variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples nsv7879 1 1 117193 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14782,nssv14763,nssv14776,nssv14775,nssv14777,nssv14770,nssv14780,nssv18103,nssv14789,nssv14781,nssv14790,nssv14772,nssv14788,nssv21423,nssv14784,nssv14771,nssv14786,nssv18093,nssv18117,nssv14787,nssv14766,nssv14783,nssv18113,nssv14791,nssv14785,nssv14762,nssv14773,nssv14768,nssv14764,nssv14774 M 31 25 1 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,LOC100288778,OR4F5,WASH7P NA07029,NA07048,NA10839,NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv1n71 1 1 346144 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870619,nsv871760 M 6533 2 0 FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC100288778,LOC729737,OR4F5,WASH7P MS11497,SP58241 dgv2n71 1 1 836671 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871664,nsv871113 M 6533 3 0 FAM138A,FAM138F,FAM41C,LINC00115,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC100288778,LOC643837,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P IS30771,IS39243,IS41043 dgv1e1 1 377 167280 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15821,essv15097,essv10172,essv14783,essv9162,essv11114,essv3863 M 271 0 0 FAM138A,FAM138F,LOC100288778,LOC729737,OR4F5,WASH7P NA18860,NA18994,NA19129,NA19130,NA19159,NA19211,NA19223 nsv428112 1 377 167280 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450130 S 62 1 0 FAM138A,FAM138F,LOC100288778,LOC729737,OR4F5,WASH7P HGDP01088 dgv3e1 1 377 1008567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6524,essv12864,essv7224,essv6104,essv606,esv595 M 271 0 0 AGRN,C1orf159,C1orf170,FAM138A,FAM138F,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC100288778,LOC643837,LOC729737,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,RNF223,SAMD11,WASH7P NA18502,NA18547,NA18572,NA18573,NA18947 esv27265 1 499 167231 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19430,esv19525,esv16041,esv17542,esv14423,esv20178,esv15038 M 451 32 6 FAM138A,FAM138F,LOC100288778,LOC729737,OR4F5,WASH7P NA06985,NA07037,NA11894,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv3n71 1 10004 595956 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871393,nsv870710 M 6533 2 0 FAM138A,FAM138F,LOC100132062,LOC100132287,LOC100133331,LOC729737,OR4F16,OR4F29,OR4F3,OR4F5,WASH7P IS31169,SP55842 nsv469759 1 17843 167209 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649780 M 265 14 0 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 17844 167209 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550437,nssv550435,nssv550438,nssv550436 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492,NA10970,NA10971,NA17051 nsv437198 1 45257 76166 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467079 S 60 0 1 Samples from several populations that are part of the HapMap project. OR4F5 NA19208 nsv437859 1 55871 68941 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471423,nssv469962,nssv471090,nssv468851,nssv471312,nssv471201,nssv467740,nssv470979 M 269 0 8 Samples from several populations that are part of the HapMap project. OR4F5 NA10831,NA10857,NA12044,NA12155,NA18912,NA18914,NA19207,NA19208 nsv514929 1 58360 60490 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628442 S 1414 0 0 OR4F5 nsv161172 1 78053 79016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179750 M 24 "" esv991724 1 126044 127189 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586083 S 3 0 1 LOC729737 HuRef nsv8990 1 166125 167223 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14779 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv870793 1 227744 707348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533163 S 6533 1 0 LOC100132062,LOC100132287,LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 MS11032 dgv4e1 1 307583 461231 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19438,essv19171,essv6302,essv2061 M 271 0 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11840,NA12865,NA18609,NA18949 nsv428223 1 307583 461231 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450575,nssv450686 M 62 1 1 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 HGDP00984,NA18498 dgv5e1 1 307583 632895 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6152,essv21228,essv16896,essv14749,essv275,essv3049,essv1788,essv18422,essv479,essv7529,essv7127,essv6021,essv21797,essv6730,essv5344,essv563,essv22870,essv42,essv5822,essv15391,essv6816,essv13070,essv5209,essv4859,essv2576,essv6604,essv4965,essv20585,essv5049,essv8373,essv21138,essv14061,essv15368,essv18731,essv5240,essv4432,essv22385,essv16293,essv13159,essv18928,essv3078,essv398 M 271 0 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA07056,NA11830,NA12005,NA12239,NA12249,NA12760,NA12815,NA12874,NA12875,NA18532,NA18537,NA18540,NA18545,NA18562,NA18563,NA18566,NA18571,NA18573,NA18576,NA18579,NA18611,NA18621,NA18624,NA18637,NA18852,NA18858,NA18861,NA18862,NA18952,NA18969,NA18971,NA18978,NA18981,NA18990,NA18991,NA18997,NA18998,NA19102,NA19159,NA19161,NA19203,NA19205 esv27883 1 307633 461200 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17876,esv20401,esv15703,esv9873,esv10639,esv13800,esv15785,esv13367,esv14573,esv16611,esv20387 M 451 13 17 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11894,NA11993,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225 nsv829647 1 307737 415038 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441629,nssv1441517,nssv1444850,nssv1447072,nssv1450405,nssv1442628,nssv1448183,nssv1443739,nssv1441518,nssv1445961,nssv1449294 M 95 1 10 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 nsv471518 1 308002 460787 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547890,nssv547887,nssv547888 M 3 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 dgv1n14 1 311662 456464 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433342,nsv433345,nsv433344 M 9 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA12156,NA18555,NA19240 nsv10050 1 337955 631462 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18107,nssv18114,nssv18121,nssv18095,nssv24597,nssv14769,nssv21446,nssv18100,nssv18111,nssv18098,nssv18096,nssv24606,nssv21441,nssv21443,nssv18109,nssv26896,nssv24594,nssv18118,nssv18105,nssv21439,nssv24614,nssv18116,nssv18112,nssv18120,nssv28054,nssv18101,nssv26902,nssv24604,nssv18099,nssv21433,nssv24618,nssv18119,nssv21426,nssv14765,nssv21424,nssv21450,nssv14767,nssv24612,nssv18106,nssv18110,nssv18104,nssv14778,nssv18094,nssv24595,nssv18092,nssv18115,nssv18102,nssv24620,nssv26886,nssv21447,nssv21435,nssv21449 M 31 8 30 Samples from several populations that are part of the HapMap project. OR4F16,OR4F29,OR4F3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv514924 1 356912 358042 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628443 S 1414 0 0 OR4F16,OR4F29,OR4F3 nsv871303 1 389687 595956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570906 S 6533 0 1 "" IS32329 esv994970 1 426592 450877 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586250 S 3 0 1 "" HuRef dgv4n71 1 449226 615226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870581,nsv871937 M 6533 0 3 OR4F16,OR4F29,OR4F3 SP55553,SP55804,SP56086 esv1004360 1 450924 461231 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586709 S 3 1 0 "" HuRef nsv871459 1 456464 617622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513690 S 6533 1 0 OR4F16,OR4F29,OR4F3 SP55829 dgv6e1 1 511232 632895 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24485,essv18129,essv7831,essv680,essv1893,essv15885,essv8788,essv11817,essv24873,essv3867,essv4690,essv10773,essv1234,essv11842,essv3975,essv5438,essv1405,essv16081,essv852,essv20202,essv12580,essv9198,essv23137,essv18284,essv2348,essv16119,essv12160,essv8274,essv13656,essv11047,essv15246,essv12783,essv13620,essv18181,essv1953,essv9445,essv23929,essv23690,essv15724,essv24808,essv9009,essv15555,essv12294,essv11117,essv11947,essv24729,essv12450,essv15488,essv15621,essv8925,essv10404,essv1195,essv14290,essv6689,essv17510,essv11286,essv13768,essv22644,essv14424,essv21244,essv11537,essv20899,essv14172,essv4036,essv6244,essv16677,essv19212,essv24509,essv9346,essv13871,essv10692,essv12660,essv21964,essv19976,essv23021,essv20297,essv13036,essv3219,essv21709,essv9122,essv19771,essv14380,essv17097,essv18354,essv9811,essv5713,essv10930,essv10859,essv19599,essv8230,essv17122,essv22335,essv7384,essv9715,essv12764,essv23485,essv22778,essv14521,essv21382,essv15140,essv18622,essv22837,essv4875,essv8485,essv13540,essv5112,essv799,essv22228,essv7731,essv2208,essv5926,essv3733,essv16405,essv4148,essv22119,essv2295,essv2682,essv10308,essv4291 M 271 0 0 OR4F16,OR4F29,OR4F3 NA06985,NA07000,NA07019,NA07034,NA10835,NA10838,NA10846,NA10855,NA10857,NA10860,NA10863,NA11829,NA11832,NA11993,NA11994,NA11995,NA12004,NA12044,NA12056,NA12057,NA12144,NA12155,NA12234,NA12248,NA12740,NA12752,NA12762,NA12801,NA12802,NA12812,NA12813,NA12814,NA12891,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18516,NA18521,NA18523,NA18550,NA18555,NA18558,NA18561,NA18577,NA18593,NA18603,NA18608,NA18622,NA18623,NA18632,NA18633,NA18635,NA18636,NA18853,NA18854,NA18855,NA18859,NA18860,NA18863,NA18871,NA18912,NA18913,NA18914,NA18940,NA18951,NA18956,NA18959,NA18960,NA18961,NA18966,NA18967,NA18970,NA18974,NA18975,NA18976,NA18994,NA18995,NA19000,NA19007,NA19094,NA19098,NA19100,NA19101,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19153,NA19160,NA19171,NA19172,NA19173,NA19194,NA19200,NA19201,NA19202,NA19204,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223 esv21732 1 511276 713934 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20880,esv17670,esv17928,esv16417,esv18879,esv12525,esv10580,esv18811,esv12770,esv17045,esv19173,esv19351,esv17998,esv17284 M 451 23 16 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 NA06985,NA07037,NA07045,NA11894,NA11993,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 esv992503 1 511321 537742 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586722 S 3 0 1 "" HuRef nsv471522 1 512002 746646 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547897,nssv547898,nssv547899 M 3 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 nsv830758 1 529118 646613 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442184,nssv1441962,nssv1441851,nssv1442073,nssv1442295,nssv1441740,nssv1442517,nssv1442406 M 95 0 8 OR4F16,OR4F29,OR4F3 dgv1e24 1 554297 639610 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750735,esv2750553,esv2750575,esv2750643,esv2750488,esv2750552,esv2750566,esv2750642,esv2750655,esv2750702,esv2750723,esv2750730,esv2750751 M 51 0 13 OR4F16,OR4F29,OR4F3 21634,21837,21847,21863,21872,21911,21938,21972,22007,22170,22231,22278,22371 dgv2n14 1 554340 696231 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433346,nsv433347 M 9 2 0 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv820617 1 554403 560638 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419880 S 1 1 0 "" NA10851 nsv831869 1 569355 733174 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443406,nssv1443073,nssv1443517,nssv1442740,nssv1442629,nssv1443628,nssv1443184,nssv1443295,nssv1442851,nssv1442962 M 95 8 2 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 dgv7e1 1 622781 802347 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4575,essv5520,essv8112,essv19551,essv21546 M 271 0 0 FAM41C,LINC00115,LOC100133331,LOC100288069,LOC643837 NA12864,NA12873,NA18524,NA18529,NA19206 essv4734 1 622781 988152 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGRN,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100133331,LOC100288069,LOC643837,NOC2L,PLEKHN1,SAMD11 NA18620 nsv870961 1 664795 746302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567218 S 6533 1 0 LOC100288069 IS31046 dgv5n71 1 688908 792493 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870766,nsv870864,nsv871796,nsv871816 M 6533 4 0 LINC00115,LOC100288069,LOC643837 MS10393,MS23767,SP52377,SP52432 dgv6n71 1 696231 766409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871505,nsv871246,nsv871546,nsv871902 M 6533 5 0 LINC00115,LOC100288069,LOC643837 IS41769,SP51051,SP53412,SP56965,SP57983 nsv10161 1 701974 1698509 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28552,nssv28048,nssv28533,nssv26892,nssv21431,nssv26879,nssv24610,nssv28031,nssv21429,nssv18108,nssv21448,nssv28940,nssv26876,nssv26882,nssv28921,nssv26877,nssv21436,nssv28558,nssv26888,nssv28038,nssv24621,nssv24602,nssv28029,nssv28542,nssv24600,nssv28946 M 31 11 7 Samples from several populations that are part of the HapMap project. ACAP3,AGRN,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM41C,GLTPD1,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC100288069,LOC148413,LOC254099,LOC441869,LOC643837,LOC643988,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,NADK,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 NA07048,NA10839,NA10863,NA12740,NA12872,NA18504,NA18537,NA18552,NA18564,NA18572,NA18972,NA19144,NA19173,NA19221 nsv508722 1 707782 733936 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619756 S 4 1 0 "" NA10860 nsv510950 1 707782 737205 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621648,nssv624357 M 4 0 0 "" NA15510,NA18994 nsv513729 1 713995 716800 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626981 S 1 1 0 "" 1 esv26272 1 714177 717108 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17593 S 451 0 4 "" NA11894,NA12006,NA12287,NA12828 nsv820807 1 714177 717108 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420291 S 1 1 0 "" NA10851 dgv1n67 1 736271 839800 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821697,nsv822808,nsv823919 M 31 4 0 FAM41C,LINC00115,LOC643837 NA18564,NA18947,NA18951,NA18972 dgv1e55 1 742429 789326 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34681,esv34886 M 771 2 0 LINC00115,LOC643837 NA18620,NA18947 essv2408 1 742429 1008567 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC643837,NOC2L,PLEKHN1,RNF223,SAMD11 NA18976 nsv517709 1 742429 1201155 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662132,nssv677805,nssv658652,nssv669544,nssv670683,nssv677935,nssv700902,nssv662754,nssv691743,nssv654371,nssv652918,nssv668090,nssv660727,nssv680332,nssv657472,nssv681209,nssv688100,nssv667239,nssv683576 M 2026 18 1 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,FAM41C,HES4,ISG15,KLHL17,LINC00115,LOC100130417,LOC254099,LOC643837,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv27271 1 744056 752485 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14965 S 451 1 0 LINC00115 NA18916 esv33946 1 744068 769619 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101171,essv96332 M 51 2 0 LINC00115,LOC643837 21618,22371 esv1032937 1 746130 746130 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703690 S 2 1 0 "" HuRef nsv871252 1 751010 814156 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550103 S 6533 1 0 FAM41C,LINC00115,LOC643837 MS18290 nsv871911 1 753670 792493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501433 S 6533 1 0 LOC643837 SP50857 dgv7n71 1 753670 841053 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870966,nsv871355,nsv870659,nsv871722,nsv871271,nsv871815 M 6533 6 0 FAM41C,LOC643837 SP50880,SP51411,SP56125,SP56832,SP56927,SP57163 nsv442837 1 755964 799636 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM41C,LOC643837 nsv298 1 762262 782522 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3151 S 9 1 0 LOC643837 NA12878 nsv832980 1 773522 932280 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443740 S 95 1 0 C1orf170,FAM41C,HES4,KLHL17,LOC100130417,LOC643837,NOC2L,PLEKHN1,SAMD11 esv1517733 1 778884 778933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242314 S 2 0 1 LOC643837 HuRef nsv508924 1 779622 810192 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619757 S 4 1 0 FAM41C NA10860 esv1069885 1 792114 792114 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978908 S 2 1 0 "" HuRef nsv428334 1 799614 1145812 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450908 S 62 1 0 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 HGDP00467 esv991325 1 800940 801701 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564868 S 3 1 0 FAM41C HuRef dgv2n67 1 802861 1351743 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825030,nsv826141 M 31 2 0 ACAP3,AGRN,AURKAIP1,B3GALT6,C1orf159,C1orf170,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 NA18968,NA18969 nsv509035 1 816649 910967 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621079,nssv619758 M 4 2 0 C1orf170,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 NA10860,NA15510 dgv8n71 1 820044 871896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871644,nsv871061 M 6533 0 3 LOC100130417,NOC2L,SAMD11 SP54725,SP54988,SP55021 nsv871883 1 820044 1020428 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573158,nssv1564241 M 6533 1 1 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 IS30191,IS33248 dgv9n71 1 820044 1064487 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871440,nsv871153,nsv870592 M 6533 0 3 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,LOC254099,NOC2L,PLEKHN1,RNF223,SAMD11 IS39417,MS10311,SP54956 nsv871547 1 820044 1184667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574977 S 6533 0 1 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS33684 dgv10n71 1 820044 1680910 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871124,nsv870496,nsv871621,nsv871723,nsv870831,nsv870837,nsv871887 M 6533 0 8 ACAP3,AGRN,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,LOC441869,LOC643988,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,NADK,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS32322,IS34304,IS35484,IS37172,MS10769,MS16153,MS16315,MS17208 esv1562509 1 834463 834729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716763 S 2 0 1 "" HuRef nsv511670 1 859114 860723 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626307 S 1 0 1 SAMD11 1 esv27608 1 859173 860210 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10036 S 451 24 12 SAMD11 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv989364 1 859278 860210 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586109 S 3 0 1 SAMD11 HuRef esv1732269 1 859334 859446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110931 S 2 0 1 SAMD11 HuRef esv1062785 1 859459 860187 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275138 S 2 0 1 SAMD11 HuRef esv2066434 1 861356 861730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643302 S 1 0 1 SAMD11 NA18507 nsv870660 1 876247 908247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512780 S 6533 0 1 C1orf170,KLHL17,NOC2L,PLEKHN1 SP55624 dgv11n71 1 878522 1182378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870593,nsv871055,nsv870573,nsv870556,nsv871789,nsv871885,nsv870743 M 6533 0 8 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,HES4,ISG15,KLHL17,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS33504,IS33601,IS34235,IS37646,IS39233,IS41243,MS10386,MS11237 nsv482036 1 885830 890958 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558397 S 1 1 0 KLHL17 KB1 esv1003697 1 889874 889948 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568238 S 3 0 1 KLHL17 HuRef nsv159315 1 890012 890087 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177893 M 24 KLHL17 esv1001028 1 900918 903597 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565170 S 3 1 0 C1orf170 HuRef esv1165796 1 902141 903171 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038215 S 2 0 1 C1orf170 HuRef dgv12n71 1 908247 1379341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870543,nsv870840,nsv871428,nsv871516,nsv871541,nsv871632,nsv871945,nsv870755,nsv871063 M 6533 0 9 ACAP3,AGRN,ATAD3C,AURKAIP1,B3GALT6,C1orf159,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS33665,IS34057,IS38176,IS41410,IS41634,MS10123,MS10698,MS13727,MS13770 esv997839 1 918544 920627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565560 S 3 0 1 "" HuRef dgv13n71 1 918699 1096336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871064,nsv871522,nsv871619,nsv871160,nsv870574 M 6533 0 6 AGRN,C1orf159,HES4,ISG15,LOC254099,MIR200A,MIR200B,MIR429,RNF223 IS33178,IS33630,IS33776,IS33797,IS34005,MS18276 nsv871483 1 919053 967643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500911 S 6533 0 1 AGRN,HES4,ISG15 SP51109 nsv159328 1 921528 921593 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177906 M 24 "" esv1776849 1 921643 921643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713900 S 2 1 0 "" HuRef nsv159419 1 921844 921974 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177997 M 24 "" nsv827252 1 923968 926370 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436318 S 31 1 0 HES4 NA18542 nsv828363 1 934543 938639 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436320,nssv1434856 M 31 1 1 "" NA18542,NA18942 nsv509146 1 935753 1036431 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619759,nssv621080 M 4 2 0 AGRN,C1orf159,ISG15,RNF223 NA10860,NA15510 dgv14n71 1 938821 984254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870603,nsv870473,nsv870533 M 6533 0 4 AGRN,ISG15 SP50159,SP54593,SP54657,SP55992 dgv15n71 1 939517 1002388 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870826,nsv871669,nsv870936 M 6533 0 5 AGRN,ISG15,RNF223 SP54043,SP54684,SP54725,SP54988,SP55021 nsv871424 1 940371 969611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511160 S 6533 0 1 AGRN SP55019 dgv16n71 1 949705 977063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870594,nsv871495 M 6533 0 2 AGRN SP54672,SP54967 nsv871557 1 952583 1002388 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503528 S 6533 1 0 AGRN,RNF223 SP52077 esv29017 1 953522 954343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19930 S 451 0 6 AGRN NA11931,NA12044,NA12414,NA12749,NA12776,NA19240 esv987912 1 953683 954343 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586137 S 3 0 1 AGRN HuRef esv4415 1 953701 954430 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26856 S 1 0 1 Single Asian sample YH AGRN YH esv6517 1 954844 955351 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28958 S 1 0 1 AGRN SJK esv1064309 1 955858 955858 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670093 S 2 1 0 AGRN HuRef nsv870874 1 970323 1019668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509304 S 6533 0 1 AGRN,C1orf159,RNF223 SP54782 nsv871349 1 970323 1054842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514668 S 6533 0 1 AGRN,C1orf159,RNF223 SP56047 nsv829425 1 981285 983720 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434857 S 31 0 1 AGRN NA18942 nsv470680 1 995669 1303878 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547649,nssv547650,nssv547648 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACAP3,AURKAIP1,B3GALT6,C1orf159,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 HGDP00661,HGDP00825,HGDP00978 esv25577 1 1001051 1004691 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14645 S 451 1 11 "" NA11993,NA12489,NA12878,NA18502,NA18511,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 esv998069 1 1001111 1004546 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586245 S 3 1 0 "" HuRef nsv870663 1 1008567 1064487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592784 S 6533 0 1 C1orf159,LOC254099 IS39258 dgv17n71 1 1008567 1295424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870958,nsv871432,nsv871822 M 6533 0 4 ACAP3,B3GALT6,C1orf159,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS33239,IS39417,IS40230,MS13095 nsv1409 1 1020714 1049928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4677 S 9 1 0 C1orf159 NA19129 esv1010559 1 1024271 1025066 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586664 S 3 1 0 C1orf159 HuRef esv23529 1 1024271 1025066 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10745 S 451 24 0 C1orf159 NA06985,NA12414,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv1281251 1 1024878 1024878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028372 S 2 1 0 C1orf159 HuRef dgv18n71 1 1033923 1109721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871293,nsv870869 M 6533 0 3 C1orf159,LOC254099,MIR200A,MIR200B,MIR429,TTLL10 IS38144,MS10311,MS17825 nsv871553 1 1033923 1182378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595631 S 6533 0 1 B3GALT6,C1orf159,FAM132A,LOC254099,MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS40297 dgv19n71 1 1033923 1404875 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871511,nsv870540,nsv871129,nsv871394,nsv870625,nsv871946 M 6533 0 7 ACAP3,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,LOC441869,MIR200A,MIR200B,MIR429,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS30369,IS31656,IS32737,IS33361,IS33455,IS40396,SP54956 dgv20n71 1 1033923 1648805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871830,nsv871244,nsv870474,nsv870753 M 6533 0 4 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,LOC441869,LOC643988,MIB2,MIR200A,MIR200B,MIR429,MMP23A,MMP23B,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 IS32841,IS33504,IS41317,MS10311 nsv160439 1 1034078 1034388 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179017 M 24 C1orf159 nsv870771 1 1039813 1064487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510622 S 6533 0 1 C1orf159,LOC254099 SP54988 esv32594 1 1041551 1041689 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92767,essv96399 M 51 0 2 C1orf159 21944,22371 nsv160193 1 1048777 1048856 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178771 M 24 "" esv2630187 1 1062939 1066829 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357752 S 1 0 1 LOC254099 NA18507 esv26506 1 1064242 1065980 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13049 S 451 17 0 LOC254099 NA11894,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18909,NA19099,NA19129,NA19147,NA19225,NA19257 nsv870527 1 1065697 1278446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564415 S 6533 1 0 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS30210 nsv161017 1 1065770 1065952 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179595 M 24 LOC254099 nsv469848 1 1071325 1247478 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649869 M 265 12 0 Samples from several populations that are part of the HapMap project. ACAP3,B3GALT6,CPSF3L,FAM132A,MIR200A,MIR200B,MIR429,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv2524046 1 1073630 1078667 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287439 S 1 0 1 "" NA18507 esv2587289 1 1074686 1080803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220272 S 1 0 1 "" NA18507 esv2317109 1 1076513 1077044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717325 S 1 0 1 "" NA18507 nsv509257 1 1077198 1114713 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619760 S 4 1 0 MIR200A,MIR200B,MIR429,TTLL10 NA10860 dgv21n71 1 1077546 1200826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870699,nsv871637,nsv870767,nsv871915 M 6533 0 5 B3GALT6,FAM132A,MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS39258,IS40502,IS40799,MS11306,MS11467 nsv871744 1 1080420 1182378 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599197 S 6533 1 0 B3GALT6,FAM132A,MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS41433 nsv871079 1 1089205 1110877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509704 S 6533 0 1 MIR200A,MIR200B,MIR429,TTLL10 SP54956 dgv22n71 1 1089205 1295424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871404,nsv870892,nsv870738,nsv871039,nsv871180 M 6533 0 11 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MIR200A,MIR200B,MIR429,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS30197,IS32888,IS34407,IS38144,IS38538,IS41894,MS11054,MS11579,MS12262,MS15997,MS19414 nsv829536 1 1102010 1102952 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436321 S 31 1 0 TTLL10 NA18542 nsv871107 1 1110133 1200826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593131 S 6533 0 1 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 IS39363 dgv23n71 1 1120590 1184667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871779,nsv871345 M 6533 0 2 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 SP54043,SP54988 nsv870548 1 1121065 1132589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507389 S 6533 0 1 TNFRSF18,TTLL10 SP54725 nsv871427 1 1121065 1145994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509034 S 6533 0 1 SDF4,TNFRSF18,TNFRSF4,TTLL10 SP54684 nsv871680 1 1121065 1161112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511301 S 6533 0 1 B3GALT6,SDF4,TNFRSF18,TNFRSF4,TTLL10 SP55021 nsv871133 1 1125105 1132589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514000 S 6533 0 1 TNFRSF18 SP55882 dgv24n71 1 1125105 1142494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871139,nsv871599 M 6533 0 2 SDF4,TNFRSF18,TNFRSF4 SP50159,SP55992 nsv871329 1 1125105 1244704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578820 S 6533 1 0 ACAP3,B3GALT6,CPSF3L,FAM132A,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,UBE2J2 IS34912 dgv25n71 1 1125105 1370430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871270,nsv870912,nsv871234,nsv871814,nsv871183 M 6533 0 5 ACAP3,AURKAIP1,B3GALT6,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,UBE2J2,VWA1 IS33248,IS36876,IS37646,MS10386,MS19630 esv24081 1 1126866 1128146 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14081 S 451 8 0 "" NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19147,NA19190 dgv26n71 1 1130298 1181733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871213,nsv871331,nsv871051,nsv871594,nsv871142,nsv870735 M 6533 0 7 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,UBE2J2 SP51109,SP54672,SP54750,SP54782,SP54967,SP55019,SP81010 nsv871512 1 1130733 1153827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518102 S 6533 0 1 SDF4,TNFRSF18,TNFRSF4 SP57469 esv9332 1 1132571 1133002 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31773 S 1 0 1 "" SJK dgv27n71 1 1132725 1161112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870938,nsv870832 M 6533 0 2 B3GALT6,SDF4,TNFRSF4 SP54591,SP54725 nsv455661 1 1142494 1201155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533179 S 1557 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv871327 1 1142494 1229798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592082 S 6533 0 1 ACAP3,B3GALT6,FAM132A,SCNN1D,SDF4,UBE2J2 IS39233 nsv159887 1 1142956 1147823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178465 M 24 SDF4 nsv870639 1 1148140 1278446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551379 S 6533 0 1 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,UBE2J2 MS18848 nsv871666 1 1148140 1295424 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542680,nssv1599268 M 6533 1 1 ACAP3,B3GALT6,CPSF3L,DVL1,FAM132A,GLTPD1,MXRA8,PUSL1,SCNN1D,SDF4,TAS1R3,UBE2J2 IS41524,MS15835 nsv871965 1 1148494 1180386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514262 S 6533 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 SP55992 nsv821698 1 1154213 1159633 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433403 S 31 1 0 B3GALT6,SDF4 NA18526 esv33767 1 1157979 1158939 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95205,essv92753,essv96403 M 51 0 3 B3GALT6 21721,21944,22371 esv5277 1 1173061 1173724 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27718 S 1 0 1 Single Asian sample YH "" YH esv1750792 1 1174236 1174500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720664 S 2 0 1 "" HuRef nsv817616 1 1182378 1231947 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417737 S 112 0 1 ACAP3,SCNN1D,UBE2J2 NA19003 dgv28n71 1 1184667 1295424 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870863,nsv871910 M 6533 3 0 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 IS30265,IS41193,MS10758 dgv8e1 1 1189183 1309735 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv64,esv462 M 271 0 0 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 NA18991 dgv29n71 1 1191495 1295424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871853,nsv871405,nsv870586,nsv871354 M 6533 0 11 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 IS38403,IS39817,IS40297,MS15199,MS20670,SP51109,SP54782,SP54988,SP55021,SP56223,SP57469 nsv870963 1 1196206 1239050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505908 S 6533 0 1 ACAP3,CPSF3L,PUSL1,SCNN1D,UBE2J2 SP54043 dgv30n71 1 1201155 1389679 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870614,nsv871493,nsv870965 M 6533 3 0 ACAP3,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,TAS1R3,TMEM88B,VWA1 IS33070,IS35581,MS17730 dgv31n71 1 1201155 1452629 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871901,nsv871797 M 6533 2 0 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,TAS1R3,TMEM88B,VWA1 IS38271,IS39494 dgv32n71 1 1209999 1379341 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871460,nsv870855,nsv870677 M 6533 5 15 ACAP3,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,TAS1R3,TMEM88B,VWA1 IS30835,IS30923,IS30953,IS32843,IS33178,IS33243,IS33263,IS33601,IS33797,IS34005,IS35726,IS36910,IS37825,IS37985,IS38293,IS38431,IS39258,IS41128,MS14318,MS22568 dgv33n71 1 1209999 1483590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870957,nsv871314 M 6533 0 2 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,C1orf70,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,SCNN1D,SSU72,TAS1R3,TMEM88B,VWA1 IS33162,MS18276 dgv34n71 1 1209999 1735586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871002,nsv870481 M 6533 0 2 ACAP3,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,C1orf70,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,GLTPD1,GNB1,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,MXRA8,NADK,PUSL1,SCNN1D,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM88B,VWA1 IS33684,IS39233 dgv35n71 1 1212369 1238194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870857,nsv871895 M 6533 0 3 ACAP3,CPSF3L,PUSL1,SCNN1D SP51042,SP54042,SP54967 esv25372 1 1213422 1215557 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20786 S 451 2 14 SCNN1D NA12004,NA12006,NA12044,NA12287,NA12414,NA12878,NA15510,NA18505,NA18508,NA18511,NA18907,NA18909,NA18916,NA19099,NA19129,NA19257 esv2106414 1 1213431 1215612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728356 S 1 0 1 SCNN1D NA18507 nsv499366 1 1213443 1215496 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585600 S 9 1 0 SCNN1D esv1004967 1 1213507 1215472 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586753 S 3 1 0 SCNN1D HuRef nsv511671 1 1213721 1215484 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626308 S 1 0 1 SCNN1D 1 esv1653789 1 1213810 1214092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908676 S 2 0 1 SCNN1D HuRef esv1027332 1 1214136 1215179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148647 S 2 0 1 SCNN1D HuRef esv1323061 1 1215269 1215269 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960677 S 2 1 0 SCNN1D HuRef dgv36n71 1 1218034 1239050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870813,nsv871109 M 6533 0 2 ACAP3,CPSF3L,PUSL1 SP54725,SP54979 nsv160950 1 1218975 1218975 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179528 M 24 ACAP3 esv3050 1 1222311 1223087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25491 S 1 0 1 Single Asian sample YH ACAP3 YH dgv37n71 1 1227692 1239050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871899,nsv871311,nsv870796,nsv871847 M 6533 0 8 ACAP3,CPSF3L,PUSL1 SP54225,SP54577,SP54621,SP54935,SP55318,SP55992,SP56047,SP81010 nsv870491 1 1229202 1285186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500512 S 6533 0 1 ACAP3,CPSF3L,DVL1,GLTPD1,MXRA8,PUSL1,TAS1R3 SP50159 dgv38n71 1 1231947 1379341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870808,nsv871452,nsv870583 M 6533 0 6 ACAP3,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,LOC441869,MRPL20,MXRA8,PUSL1,TAS1R3,TMEM88B,VWA1 IS30837,IS31082,IS31282,IS31728,IS32803,IS33630 dgv39n71 1 1248109 1285186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870913,nsv871211 M 6533 0 3 CPSF3L,DVL1,GLTPD1,MXRA8,TAS1R3 SP54043,SP54684,SP54725 nsv511672 1 1275043 1276733 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626309 S 1 0 1 "" 1 esv23965 1 1275263 1276763 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19242 S 451 16 0 "" NA06985,NA12239,NA12414,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129 esv988609 1 1275263 1276763 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586390 S 3 0 1 "" HuRef esv3820 1 1292241 1292688 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26261 S 1 0 1 Single Asian sample YH "" YH esv9582 1 1292426 1292745 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32023 S 1 0 1 "" SJK nsv871837 1 1300787 1626497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534671 S 6533 0 1 ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,CDK11A,CDK11B,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,SLC35E2B,SSU72,TMEM88B,VWA1 MS11726 nsv871690 1 1303878 1735586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589212 S 6533 1 0 ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,CDK11A,CDK11B,GNB1,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,NADK,SLC35E2,SLC35E2B,SSU72,TMEM88B,VWA1 IS38315 esv2540358 1 1307160 1307861 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193104 S 1 1 0 "" NA18507 essv5472 1 1314392 1506413 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATAD3A,ATAD3B,ATAD3C,C1orf70,CCNL2,LOC148413,LOC441869,MRPL20,SSU72,TMEM88B,VWA1 NA18632 dgv9e1 1 1314392 2014198 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv532,essv3870 M 271 0 0 ATAD3A,ATAD3B,ATAD3C,C1orf70,CALML6,CCNL2,CDK11A,CDK11B,GABRD,GNB1,KIAA1751,LOC148413,LOC441869,LOC643988,MIB2,MMP23A,MMP23B,MRPL20,NADK,PRKCZ,SLC35E2,SLC35E2B,SSU72,TMEM52,TMEM88B,VWA1 NA18994 dgv40n71 1 1328459 1375074 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871832,nsv870642,nsv871434,nsv870455,nsv871507 M 6533 0 16 ATAD3C,LOC441869,MRPL20,TMEM88B,VWA1 SP51109,SP54043,SP54225,SP54591,SP54593,SP54657,SP54672,SP54684,SP54725,SP54750,SP54967,SP54988,SP55019,SP55021,SP55056,SP81010 nsv871787 1 1343243 1370430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500230 S 6533 0 1 LOC441869,TMEM88B,VWA1 SP50159 esv24333 1 1352293 1353399 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10423 S 451 1 0 TMEM88B NA06985 dgv41n71 1 1366010 1429534 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870939,nsv871420 M 6533 2 0 ATAD3B,ATAD3C,VWA1 SP53490,SP54401 nsv482135 1 1374932 1395401 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558496 S 1 1 0 ATAD3C KB1 dgv42n71 1 1389679 1498897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871029,nsv870563 M 6533 0 2 ATAD3A,ATAD3B,ATAD3C,C1orf70,SSU72 IS31656,SP54988 dgv43n71 1 1389679 1648805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871781,nsv870996,nsv870702,nsv870900,nsv870550,nsv870476,nsv870636,nsv871134,nsv871886 M 6533 0 12 ATAD3A,ATAD3B,ATAD3C,C1orf70,CDK11A,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B,SSU72 IS31082,IS33178,IS33630,IS33665,IS34407,IS35287,IS35566,IS36910,IS37646,IS38235,IS39417,MS12545 nsv482146 1 1397027 1421444 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558507 S 1 1 0 ATAD3B KB1 esv1254392 1 1403212 1403212 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989689 S 2 1 0 ATAD3B HuRef esv25832 1 1404772 1406058 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11756 S 451 0 3 ATAD3B NA18511,NA18523,NA18861 nsv871421 1 1404962 1441243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499675 S 6533 0 1 ATAD3A,ATAD3B SP50156 nsv871696 1 1404962 1464030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509706 S 6533 0 1 ATAD3A,ATAD3B,C1orf70 SP54956 dgv44n71 1 1407979 1610720 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871514,nsv870988 M 6533 3 5 ATAD3A,ATAD3B,C1orf70,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B,SSU72 IS31728,IS32843,IS33243,IS33514,IS33871,IS41243,IS41410,MS15199 nsv871954 1 1415563 1712445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575689 S 6533 0 1 ATAD3A,ATAD3B,C1orf70,CDK11A,CDK11B,GNB1,LOC643988,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 IS33797 nsv821809 1 1433831 1437382 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428013 S 31 1 0 "" AK10 nsv821920 1 1433831 1453689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440791 S 31 1 0 ATAD3A NA18969 nsv482157 1 1437418 1459927 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558518 S 1 1 0 ATAD3A KB1 nsv871540 1 1452629 1695996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558399 S 6533 1 0 ATAD3A,C1orf70,CDK11A,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 MS23257 dgv45n71 1 1452629 1712445 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871628,nsv871896,nsv870495 M 6533 0 5 ATAD3A,C1orf70,CDK11A,CDK11B,GNB1,LOC643988,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 IS30764,IS31445,IS38463,IS38724,MS11579 esv1301718 1 1468970 1468970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821253 S 2 1 0 SSU72 HuRef esv1010850 1 1490872 1490872 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572228 S 3 1 0 SSU72 HuRef nsv870847 1 1500664 1634768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509707 S 6533 0 1 CDK11A,CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B SP54956 nsv871940 1 1516133 1563724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507456,nssv1511163,nssv1501664 M 6533 0 3 CDK11B,LOC643988,MIB2,MMP23A,MMP23B SP51109,SP54684,SP55019 dgv46n71 1 1516133 1586883 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871681,nsv870887 M 6533 0 3 CDK11B,LOC643988,MIB2,MMP23A,MMP23B,SLC35E2B SP54043,SP54672,SP54988 esv998174 1 1530713 1531833 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586347 S 3 1 0 "" HuRef esv23829 1 1530793 1531833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15071 S 451 0 3 "" NA12006,NA12878,NA18916 nsv822031 1 1542495 1543199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434858 S 31 0 1 MIB2 NA18942 dgv47n71 1 1557334 1634768 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871496,nsv871301 M 6533 0 2 CDK11A,CDK11B,MMP23A,MMP23B,SLC35E2B SP52946,SP57045 nsv871583 1 1557334 1670079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512077 S 6533 0 1 CDK11A,CDK11B,MMP23A,MMP23B,SLC35E2,SLC35E2B SP55277 esv27786 1 1557744 1673566 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17198 S 451 1 0 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA12828 dgv48n71 1 1563724 1615647 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870539,nsv871202 M 6533 3 0 CDK11B,SLC35E2B SP50521,SP54604,SP57078 nsv871676 1 1563724 1617847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504073 S 6533 0 1 CDK11B,SLC35E2B SP52175 nsv871749 1 1563724 1626497 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500453,nssv1517515,nssv1511892,nssv1506204,nssv1513497 M 6533 3 2 CDK11A,CDK11B,MMP23A,SLC35E2B SP50137,SP54078,SP55160,SP55789,SP57299 nsv870598 1 1563724 1635226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502536 S 6533 1 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP51244 esv1336011 1 1574409 1574409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160103 S 2 1 0 CDK11B HuRef dgv3n67 1 1575237 1657017 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822253,nsv822142,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 dgv49n71 1 1585061 1635226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870658,nsv870974 M 6533 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B SP50098,SP51353 dgv50n71 1 1586883 1634768 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870717,nsv871135 M 6533 2 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP55558,SP55864 nsv871030 1 1586883 1643532 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516131 S 6533 1 0 CDK11A,CDK11B,MMP23A,SLC35E2B SP56458 esv1758309 1 1588294 1588461 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827771 S 2 0 1 CDK11B,SLC35E2B HuRef esv6099 1 1605119 1605212 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28540 S 1 1 0 CDK11B,SLC35E2B SJK dgv51n71 1 1605424 1648805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871217,nsv871518 M 6533 0 5 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B SP50523,SP54561,SP54604,SP54725,SP55699 dgv10e1 1 1609516 1720123 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17575,essv1830,essv20259,essv10795,essv11783,essv16833,essv21660,essv11223,essv5454,essv16942,essv4042,essv13898,essv23336,essv20567,essv24958,essv17964,essv21384,essv7086,essv23590 M 271 0 0 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2,SLC35E2B NA07056,NA10839,NA12003,NA12006,NA12144,NA12248,NA12740,NA12750,NA12762,NA18504,NA18523,NA18537,NA18632,NA18635,NA18854,NA18976,NA19144,NA19204,NA19205 dgv52n71 1 1610720 1674332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870509,nsv871600,nsv870726 M 6533 0 4 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B SP50832,SP55034,SP56125,SP56248 dgv53n71 1 1615647 1675900 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871220,nsv871658 M 6533 2 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 SP57443,SP80936 nsv871560 1 1617665 1712445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565133,nssv1532352 M 6533 0 2 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 IS30369,MS10769 nsv442858 1 1617778 1662463 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CDK11A,CDK11B,MMP23A,SLC35E2 nsv436343 1 1619478 1674040 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466028 S 2 0 1 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,MMP23A,NADK,SLC35E2 NA18505 nsv834091 1 1622658 1801937 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443851 S 95 0 1 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 nsv482168 1 1624030 1645651 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558529 S 1 1 0 CDK11A,CDK11B KB1 nsv822475 1 1624860 1670445 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439447 S 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1625061 1640673 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438578 S 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1625065 1657017 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422355 S 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 nsv871903 1 1626497 1673425 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504455,nssv1504111 M 6533 1 1 CDK11A,CDK11B,NADK,SLC35E2 SP52231,SP52497 nsv871121 1 1626497 1735586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564211 S 6533 1 0 CDK11A,CDK11B,GNB1,NADK,SLC35E2 IS30180 essv725 1 1636649 1678052 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B,NADK,SLC35E2 NA18940 nsv822809 1 1637729 1657017 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431056 S 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv509368 1 1638191 1638191 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623768 S 4 1 0 CDK11A,CDK11B NA18994 nsv436733 1 1638486 1638555 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466139 S 2 1 0 Samples from several populations that are part of the HapMap project. CDK11A,CDK11B NA18505 nsv159838 1 1638886 1638936 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178416 M 24 CDK11A,CDK11B esv988165 1 1638911 1638961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570116 S 3 0 1 CDK11A,CDK11B HuRef esv1455500 1 1638923 1638974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050580 S 2 0 1 CDK11A,CDK11B HuRef nsv160496 1 1638954 1639004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179074 M 24 CDK11A,CDK11B nsv160062 1 1639576 1640537 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178640 M 24 CDK11A,CDK11B esv6106 1 1639919 1640397 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28547 S 1 0 1 CDK11A,CDK11B SJK nsv160158 1 1640463 1640463 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178736 M 24 CDK11A,CDK11B esv1736683 1 1670927 1670927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785632 S 2 1 0 "" HuRef nsv870637 1 1674332 1708295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509708 S 6533 0 1 GNB1,NADK SP54956 dgv54n71 1 1686519 1706586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871332,nsv871040 M 6533 0 2 GNB1,NADK SP54043,SP57469 nsv834335 1 1734770 1923265 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443962 S 95 0 1 CALML6,GNB1,KIAA1751,TMEM52 esv2619193 1 1760874 1767320 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309496 S 1 0 1 GNB1 NA18507 dgv55n71 1 1799950 2041373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871662,nsv871951 M 6533 0 2 CALML6,GABRD,GNB1,KIAA1751,PRKCZ,TMEM52 IS37172,MS10311 dgv56n71 1 1799950 2281540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870691,nsv871575 M 6533 0 2 C1orf86,CALML6,GABRD,GNB1,KIAA1751,LOC100129534,MORN1,PRKCZ,SKI,TMEM52 MS10769,MS18276 nsv871672 1 1803260 1841994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509709 S 6533 0 1 CALML6,GNB1,TMEM52 SP54956 nsv871204 1 1807989 1833906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510628 S 6533 0 1 GNB1 SP54988 nsv10272 1 1810314 1813172 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28034,nssv26884,nssv21432,nssv18097,nssv29276,nssv24607,nssv24619,nssv21440,nssv28028,nssv21425,nssv28044,nssv24617,nssv21422,nssv21437,nssv28535,nssv21434,nssv28930 M 31 17 0 Samples from several populations that are part of the HapMap project. GNB1 NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA19007,NA19144,NA19173 nsv870914 1 1833906 1982608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546432 S 6533 0 1 CALML6,GABRD,KIAA1751,PRKCZ,TMEM52 MS17208 nsv10383 1 1836475 1849741 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24603 S 31 1 0 Samples from several populations that are part of the HapMap project. CALML6,TMEM52 NA18502 esv2587332 1 1850375 1850824 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262341 S 1 1 0 "" NA18507 nsv512709 1 1850584 1850724 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625333 S 1 1 0 "" 1 esv6744 1 1856157 1856942 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29185 S 1 0 1 "" SJK esv5421 1 1856164 1857032 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27862 S 1 0 1 Single Asian sample YH "" YH nsv834446 1 1881903 2077734 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444073 S 95 0 1 GABRD,KIAA1751,PRKCZ esv2381744 1 1889056 1889385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505691 S 1 0 1 KIAA1751 NA18507 esv25575 1 1900237 1903790 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17032,esv21134,esv13192 M 451 2 20 KIAA1751 NA06985,NA07037,NA11993,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA18858,NA18861,NA18916,NA19114,NA19147,NA19190,NA19257 esv994854 1 1902795 1903600 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586225 S 3 0 1 KIAA1751 HuRef esv1576320 1 1903185 1903185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312046 S 2 1 0 KIAA1751 HuRef dgv57n71 1 1906447 2058766 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871003,nsv871212 M 6533 0 2 GABRD,KIAA1751,PRKCZ IS32737,IS33601 esv1718201 1 1915018 1915018 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140788 S 2 1 0 KIAA1751 HuRef dgv58n71 1 1936451 1980874 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871308,nsv870670 M 6533 0 2 GABRD,PRKCZ SP54725,SP54988 nsv871701 1 1938861 2145729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538559 S 6533 0 1 C1orf86,GABRD,PRKCZ MS13770 nsv822920 1 1978127 1980416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436323 S 31 1 0 PRKCZ NA18542 nsv2520 1 1984593 2010920 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1058 S 9 1 0 PRKCZ NA19240 nsv509479 1 1993610 2098297 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619762,nssv619761 M 4 1 0 PRKCZ NA10860 nsv871663 1 1995968 2063411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572607 S 6533 0 1 PRKCZ IS33162 esv1002714 1 2006889 2006889 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575233 S 3 1 0 PRKCZ HuRef esv1162822 1 2007081 2007081 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941411 S 2 1 0 PRKCZ HuRef nsv3631 1 2012604 2046812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7778 S 9 1 0 PRKCZ NA12156 nsv470681 1 2013924 2103425 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547651 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCZ HGDP00697 esv27078 1 2014403 2017263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16667 S 451 0 2 PRKCZ NA18508,NA19240 nsv871399 1 2023116 2272977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546433 S 6533 0 1 C1orf86,LOC100129534,MORN1,PRKCZ,SKI MS17208 esv4759 1 2027516 2028082 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27200 S 1 0 1 Single Asian sample YH PRKCZ YH dgv1e194 1 2027609 2028133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1927480,esv2345828 M 1 0 1 PRKCZ NA18507 nsv160060 1 2028171 2028171 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178638 M 24 PRKCZ nsv460616 1 2030796 2079386 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537157 S 1557 0 1 PRKCZ NINDS_69 esv2196740 1 2031279 2031631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845456 S 1 0 1 PRKCZ NA18507 nsv834557 1 2038930 2232403 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445073,nssv1444851,nssv1444962,nssv1445295,nssv1444184,nssv1444628,nssv1444517,nssv1444406,nssv1444739,nssv1445184,nssv1444295 M 95 0 11 C1orf86,PRKCZ,SKI esv2492368 1 2042381 2042872 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343806 S 1 1 0 PRKCZ NA18507 esv26913 1 2042821 2045835 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15600,esv18512 M 451 7 20 PRKCZ NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12287,NA12489,NA12828,NA12878,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821592 1 2042821 2045905 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420402 S 1 0 1 PRKCZ NA10851 esv2505453 1 2043244 2045972 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233482 S 1 0 1 PRKCZ NA18507 esv4841 1 2043376 2045793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27282 S 1 0 1 Single Asian sample YH PRKCZ YH esv1008133 1 2043483 2045670 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586410 S 3 1 0 PRKCZ HuRef esv1138741 1 2044405 2044513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618162 S 2 0 1 PRKCZ HuRef nsv870901 1 2047883 2086498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519759 S 6533 1 0 PRKCZ SP50544 nsv870615 1 2047883 2163364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573312 S 6533 1 0 C1orf86,PRKCZ,SKI IS33263 dgv59n71 1 2059960 2165898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871955,nsv870529 M 6533 0 2 C1orf86,PRKCZ,SKI IS33162,SP54956 esv2313378 1 2063576 2063899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884634 S 1 0 1 PRKCZ NA18507 esv4294 1 2063591 2063822 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26735 S 1 0 1 Single Asian sample YH PRKCZ YH nsv461727 1 2072349 2172330 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538084 S 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A dgv60n71 1 2086498 2170384 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871059,nsv870713 M 6533 0 3 C1orf86,PRKCZ,SKI IS33239,IS33797,IS39417 dgv61n71 1 2086498 2212443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871318,nsv871410,nsv871463,nsv871614,nsv871855 M 6533 0 6 C1orf86,PRKCZ,SKI IS31656,IS32888,IS35484,IS41243,IS41634,MS10698 dgv62n71 1 2086498 2300053 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871167,nsv871127,nsv871631,nsv871721,nsv871357,nsv870623,nsv870833 M 6533 0 9 C1orf86,LOC100129534,MORN1,PRKCZ,SKI IS32322,IS32737,IS32841,IS33504,IS33684,IS34005,IS41410,MS10311,MS11306 dgv63n71 1 2108199 2163364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871884,nsv871247,nsv870629,nsv871163 M 6533 0 4 C1orf86,SKI SP54043,SP54988,SP55019,SP55021 nsv470682 1 2109693 2300053 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547655,nssv547654,nssv547653,nssv547657,nssv547652 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf86,LOC100129534,MORN1,SKI HGDP00288,HGDP00313,HGDP00546,HGDP00657,HGDP00978 nsv818111 1 2130121 2146222 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417805 S 112 0 1 "" NA18853 nsv463949 1 2130121 2184977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539962 S 1557 0 1 SKI 1780862414_A nsv834668 1 2145626 2314237 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447628,nssv1450517,nssv1448072,nssv1447073,nssv1445517,nssv1448961,nssv1450406,nssv1446406,nssv1445739,nssv1450628,nssv1450294,nssv1448406,nssv1448628,nssv1445406,nssv1447517,nssv1446184,nssv1448184,nssv1449072,nssv1449517,nssv1446850,nssv1448850,nssv1448739,nssv1450072,nssv1445962,nssv1446073,nssv1446961,nssv1445628,nssv1447184,nssv1447295,nssv1450183,nssv1447961,nssv1448295,nssv1449406,nssv1447739,nssv1449183,nssv1448517,nssv1446295,nssv1449628,nssv1449739,nssv1449850,nssv1447406,nssv1445850,nssv1447850,nssv1446739,nssv1446628,nssv1449961,nssv1449295,nssv1446517 M 95 0 48 LOC100129534,MORN1,RER1,SKI esv2648351 1 2148325 2150352 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208944 S 1 0 1 SKI NA18507 nsv465060 1 2170384 2210509 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540916 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SKI HGDP01351 dgv64n71 1 2172330 2497275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871321,nsv871383 M 6533 0 2 HES5,LOC100129534,LOC100133445,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1,SKI,TNFRSF14 IS37646,IS39233 nsv870822 1 2182293 2224492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590915 S 6533 1 0 SKI IS38603 dgv65n71 1 2182293 2279181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871093,nsv870750,nsv870732,nsv870758,nsv870785,nsv870982 M 6533 0 8 LOC100129534,MORN1,SKI IS31082,IS33162,IS33514,IS34304,IS39417,IS40396,MS11237,MS16153 dgv66n71 1 2184977 2226557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871845,nsv870836,nsv870681 M 6533 0 4 SKI IS35007,IS38235,IS38293,IS38403 nsv528621 1 2188917 2201709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705251 S 2026 0 1 SKI nsv870904 1 2192634 2270521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582851 S 6533 1 0 MORN1,SKI IS36183 esv22780 1 2201920 2204035 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20675 S 451 4 10 SKI NA06985,NA11931,NA11993,NA12006,NA12239,NA12287,NA18508,NA18517,NA18523,NA18909,NA18916,NA19108,NA19240,NA19257 esv1252402 1 2202020 2202233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979301 S 2 0 1 SKI HuRef esv1536883 1 2202501 2202588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775323 S 2 0 1 SKI HuRef esv1025209 1 2202650 2202865 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025462 S 2 0 1 SKI HuRef dgv67n71 1 2202780 2281540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871289,nsv870888,nsv870783,nsv871941,nsv871952,nsv870532,nsv870997 M 6533 0 8 LOC100129534,MORN1,SKI IS30369,IS33239,IS34057,IS37172,IS38538,IS40230,MS10698,MS16315 esv1682069 1 2202878 2203136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061538 S 2 0 1 SKI HuRef esv1164473 1 2203161 2203247 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589181 S 2 0 1 SKI HuRef nsv870515 1 2214736 2304179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529769 S 6533 0 1 LOC100129534,MORN1,SKI MS10123 nsv823031 1 2224073 2256165 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426364 S 31 1 0 MORN1,SKI AK6 dgv68n71 1 2224492 2281540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871489,nsv871652,nsv870610,nsv870512,nsv871765 M 6533 0 5 LOC100129534,MORN1,SKI IS33601,MS17522,SP54782,SP54956,SP54988 nsv871848 1 2225591 2247587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507391 S 6533 0 1 MORN1,SKI SP54725 nsv4742 1 2226024 2272062 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3953,nssv10842,nssv8452,nssv5660,nssv1955 M 9 5 0 LOC100129534,MORN1,SKI NA12156,NA12878,NA18555,NA18956,NA19129 nsv871930 1 2226557 2369108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573519 S 6533 0 1 LOC100129534,MORN1,PEX10,RER1,SKI IS33455 dgv4n67 1 2227388 2231840 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823253,nsv823586,nsv823142,nsv823475 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2228155 2230862 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437213 S 31 1 0 SKI NA18949 esv2502867 1 2245558 2248109 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196708 S 1 0 1 MORN1 NA18507 nsv870616 1 2253748 2349841 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558400 S 6533 1 0 LOC100129534,MORN1,PEX10,RER1 MS23257 dgv69n71 1 2272977 2436740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870803,nsv870877,nsv871136,nsv871601 M 6533 0 4 LOC100129534,MORN1,PANK4,PEX10,PLCH2,RER1 IS32322,IS33178,IS33684,IS34235 dgv70n71 1 2289511 2322891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870564,nsv871012,nsv870714 M 6533 0 3 MORN1,RER1 IS34304,IS35484,MS16153 nsv871856 1 2291551 2310562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587768 S 6533 0 1 MORN1 IS38111 dgv71n71 1 2291551 2541760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871118,nsv871041,nsv870478,nsv870955,nsv871411,nsv870858,nsv871710,nsv871439 M 6533 0 14 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,MORN1,PANK4,PEX10,PLCH2,RER1,TNFRSF14 IS30369,IS31045,IS32737,IS32841,IS34304,IS37985,IS41243,MS10204,MS10311,MS10386,MS10769,MS13770,MS17208,MS18276 dgv72n71 1 2293372 2472781 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870804,nsv871798,nsv871519,nsv871596,nsv870967,nsv871448,nsv870917 M 6533 0 19 HES5,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1 IS30835,IS33504,IS33601,IS35007,IS35484,IS36910,IS37172,IS37874,IS38176,IS38293,IS38388,IS38403,IS39817,IS40230,IS40368,IS41634,IS41894,MS10698,MS16315 dgv73n71 1 2296832 2380448 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871788,nsv871447 M 6533 0 2 MORN1,PEX10,RER1 IS40396,SP54956 nsv520511 1 2297341 2298942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697462 S 2026 0 1 MORN1 nsv870492 1 2305577 2340772 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510632 S 6533 0 1 MORN1,PEX10,RER1 SP54988 dgv74n71 1 2309288 2398694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870488,nsv871103,nsv871412,nsv871333 M 6533 0 8 MORN1,PEX10,PLCH2,RER1 IS31270,IS31766,IS31904,IS33514,IS33630,IS33797,IS39254,IS39258 dgv75n71 1 2309288 2842066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870697,nsv870587,nsv871682,nsv871309,nsv871214 M 6533 0 5 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,MORN1,PANK4,PEX10,PLCH2,RER1,TNFRSF14,TTC34 IS34005,IS39417,MS10123,MS11579,MS13095 nsv823697 1 2310992 2327218 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426365 S 31 1 0 MORN1,PEX10,RER1 AK6 nsv470684 1 2315869 2837348 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547670,nssv547665,nssv547663,nssv547669,nssv547664,nssv547658,nssv547668,nssv547661,nssv547666,nssv547671,nssv547659,nssv547660,nssv547662 M 443 0 12 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PEX10,PLCH2,RER1,TNFRSF14,TTC34 HGDP00288,HGDP00290,HGDP00302,HGDP00313,HGDP00333,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00978 nsv870567 1 2317675 2369108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547668 S 6533 0 1 PEX10,RER1 MS17522 dgv76n71 1 2317675 2415852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870989,nsv871515,nsv870848 M 6533 0 6 PEX10,PLCH2,RER1 IS33239,IS33248,IS33665,IS33776,IS41410,MS18848 esv2631918 1 2322112 2323107 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353074 S 1 1 0 RER1 NA18507 dgv1n27 1 2322891 2440254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467282,nsv466171 M 1557 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 nsv512710 1 2323086 2323243 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625334 S 1 1 0 RER1 1 nsv823808 1 2324440 2325694 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436324 S 31 1 0 RER1 NA18542 dgv77n71 1 2325536 2436740 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871641,nsv871767 M 6533 2 0 PANK4,PEX10,PLCH2,RER1 IS30210,IS31763 dgv78n71 1 2328934 2436740 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv870998,nsv870715,nsv871857 M 6533 7 9 PANK4,PEX10,PLCH2 IS32998,IS33162,IS33175,IS33403,IS33493,IS33543,IS36519,IS37577,IS38262,IS38430,IS40318,MS11237,MS12262,MS13727,MS15835,MS17114 nsv870799 1 2343729 2385312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511305 S 6533 0 1 "" SP55021 dgv79n71 1 2343729 2490499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870920,nsv871004,nsv871838 M 6533 0 4 HES5,LOC100133445,LOC115110,PANK4,PLCH2,TNFRSF14 IS31656,IS32888,IS40799,SP54988 nsv470685 1 2349841 2440254 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547672 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PANK4,PLCH2 HGDP00720 dgv80n71 1 2351880 2436740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871966,nsv870692,nsv871401 M 6533 0 3 PANK4,PLCH2 IS30197,MS11467,MS11726 nsv871359 1 2359358 2394116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507437 S 6533 0 1 "" SP54725 dgv81n71 1 2359358 2456493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870948,nsv871068,nsv870865 M 6533 0 3 HES5,PANK4,PLCH2 IS34908,MS12202,SP54782 esv988545 1 2361810 2361879 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577413 S 3 0 1 "" HuRef esv1513739 1 2361857 2361857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248036 S 2 1 0 "" HuRef nsv871726 1 2362949 2541760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543341 S 6533 0 1 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PLCH2,TNFRSF14 MS16153 dgv11e1 1 2366114 2370109 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8862,esv312 M 271 0 0 "" NA18508 nsv870655 1 2369108 3091213 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533731 S 6533 0 1 ACTRT2,C1orf93,FLJ42875,HES5,LOC100133445,LOC115110,MIR4251,MMEL1,PANK4,PLCH2,PRDM16,TNFRSF14,TTC34 MS11306 esv25748 1 2380073 2381162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15167,esv12176 M 451 0 12 "" NA06985,NA11894,NA12004,NA12239,NA12287,NA18511,NA18858,NA18909,NA18916,NA19129,NA19147,NA19240 nsv871912 1 2380448 2470197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578821 S 6533 1 0 HES5,PANK4,PLCH2 IS34912 esv989190 1 2383548 2383548 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583245 S 3 1 0 "" HuRef esv1307242 1 2383637 2383637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609131 S 2 1 0 "" HuRef nsv871255 1 2399136 2480088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584117 S 6533 0 1 HES5,LOC115110,PANK4,PLCH2,TNFRSF14 IS36876 nsv823920 1 2403604 2473701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440793 S 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 nsv818222 1 2413982 2480088 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417806,nssv1417514 M 112 0 2 HES5,LOC115110,PANK4,PLCH2,TNFRSF14 NA18853,NA18968 nsv7171 1 2433858 2527931 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2141,nssv4052,nssv5821,nssv9849,nssv1153,nssv10864,nssv10880,nssv9802,nssv6533,nssv9287,nssv10990,nssv1241,nssv5743,nssv2047,nssv4140,nssv6621 M 9 0 0 C1orf93,HES5,LOC100133445,LOC115110,MMEL1,PANK4,TNFRSF14 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 dgv82n71 1 2439052 2472781 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871253,nsv870759,nsv870754 M 6533 0 4 HES5,LOC115110,PANK4 SP54043,SP54725,SP54956,SP55021 nsv824031 1 2442099 2472957 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426366 S 31 1 0 HES5,LOC115110,PANK4 AK6 dgv83n71 1 2442429 2456493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871366,nsv871072 M 6533 0 5 HES5,PANK4 SP54345,SP54591,SP54657,SP54750,SP55019 esv2583485 1 2443495 2444308 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387623 S 1 1 0 PANK4 NA18507 esv1165961 1 2444115 2444115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796592 S 2 1 0 PANK4 HuRef dgv84n71 1 2445360 2456493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871949,nsv871346,nsv870645 M 6533 0 5 HES5,PANK4 SP51109,SP54593,SP54967,SP54979,SP81010 nsv1 1 2446450 2478865 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv1 S 1 0 0 HES5,LOC115110,PANK4 NA15510 esv996586 1 2471782 2490872 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564272 S 3 0 0 LOC100133445,LOC115110,TNFRSF14 HuRef dgv1n50 1 2472748 2489106 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513632,nsv513633 M 1 0 0 LOC100133445,LOC115110,TNFRSF14 1 esv2471749 1 2473764 2490238 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165573 S 1 0 0 LOC100133445,LOC115110,TNFRSF14 NA18507 dgv1n47 1 2474521 2489757 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 esv1699286 1 2475133 2489144 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270452 S 2 0 0 LOC100133445,TNFRSF14 HuRef dgv5n67 1 2476434 2478083 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824253,nsv824142 M 31 0 2 "" AK20,NA18972 nsv436691 1 2477117 2490251 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466250 S 2 0 0 Samples from several populations that are part of the HapMap project. LOC100133445,TNFRSF14 NA18505 nsv829648 1 2477440 2562200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450739 S 95 0 1 C1orf93,LOC100133445,MMEL1,TNFRSF14 nsv871833 1 2480088 2689509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597588 S 6533 0 1 C1orf93,LOC100133445,MMEL1,TNFRSF14,TTC34 IS41317 nsv824364 1 2480304 2481406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434859 S 31 0 1 TNFRSF14 NA18942 nsv824475 1 2480963 2481406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431952 S 31 0 1 TNFRSF14 NA18972 nsv870979 1 2503076 2534500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510634 S 6533 0 1 C1orf93,MMEL1 SP54988 dgv85n71 1 2503076 2768903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871287,nsv870971,nsv870953,nsv871821,nsv870671,nsv871944 M 6533 0 9 C1orf93,MMEL1,TTC34 IS32888,IS32918,IS33504,IS36876,IS38144,IS38176,MS10386,MS11237,MS13727 nsv428399 1 2543838 3142350 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452575 S 62 1 0 ACTRT2,FLJ42875,MIR4251,MMEL1,PRDM16,TTC34 HGDP00450 esv21805 1 2555784 2624042 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12016,esv12744,esv16589,esv12824,esv21190,esv18116 M 451 23 8 TTC34 NA06985,NA07037,NA07045,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225,NA19240 nsv511152 1 2555862 2556342 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626021 S 1 0 1 "" 1 esv1931226 1 2555889 2556583 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612274 S 1 0 1 "" NA18507 esv1624207 1 2556377 2556377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164733 S 2 1 0 "" HuRef esv994553 1 2562327 2573939 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565426 S 3 1 0 TTC34 HuRef nsv824586 1 2570328 2573301 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438579 S 31 1 0 TTC34 NA18973 nsv161117 1 2572889 2573455 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179695 M 24 TTC34 dgv1n6 1 2573419 2580949 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv160392,nsv160178 M 24 TTC34 esv1381913 1 2573430 2573430 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214883 S 2 1 0 TTC34 HuRef nsv820462 1 2573460 2624042 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420513 S 1 1 0 TTC34 NA10851 nsv160953 1 2573560 2574160 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179531 M 24 TTC34 nsv160689 1 2573792 2574393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179267 M 24 TTC34 esv999533 1 2574087 2574929 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568762 S 3 0 1 TTC34 HuRef dgv86n71 1 2574398 2909010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871729,nsv870893 M 6533 0 3 TTC34 IS34304,MS10769,MS16315 nsv159794 1 2574506 2576192 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178372 M 24 TTC34 nsv159997 1 2574735 2574895 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178575 M 24 TTC34 nsv160053 1 2575167 2575167 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178631 M 24 TTC34 esv8624 1 2575936 2619046 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31065 S 1 0 1 TTC34 SJK esv1995006 1 2577543 2599245 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845344 S 1 0 1 TTC34 NA18507 esv999575 1 2577640 2610115 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575600 S 3 0 1 TTC34 HuRef nsv5853 1 2579130 2604293 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5901,nssv9998 M 9 2 0 TTC34 NA18956,NA19129 esv1159004 1 2583107 2583107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785302 S 2 1 0 TTC34 HuRef esv1780740 1 2583565 2583646 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117042 S 2 0 1 TTC34 HuRef esv1286791 1 2583736 2583816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745617 S 2 0 1 TTC34 HuRef esv1001627 1 2583755 2584637 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584427 S 3 0 1 TTC34 HuRef esv1366162 1 2585273 2585353 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788684 S 2 0 1 TTC34 HuRef esv1701153 1 2585378 2585617 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138724 S 2 0 1 TTC34 HuRef esv990905 1 2586613 2596446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573398 S 3 0 1 TTC34 HuRef esv1348726 1 2586686 2586686 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133439 S 2 1 0 TTC34 HuRef esv992616 1 2586821 2591234 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581681 S 3 0 1 TTC34 HuRef esv1068112 1 2587408 2587408 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882975 S 2 1 0 TTC34 HuRef esv1134902 1 2588279 2588359 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644540 S 2 0 1 TTC34 HuRef esv1460747 1 2589318 2589438 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860280 S 2 0 1 TTC34 HuRef esv1312498 1 2590097 2590337 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349278 S 2 0 1 TTC34 HuRef esv997173 1 2591229 2591790 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566822 S 3 0 1 TTC34 HuRef esv1162144 1 2592696 2593218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966245 S 2 0 1 TTC34 HuRef esv1394797 1 2594300 2594381 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279125 S 2 0 1 TTC34 HuRef nsv160294 1 2594341 2598916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178872 M 24 TTC34 esv1779754 1 2595041 2595041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803937 S 2 1 0 TTC34 HuRef esv993173 1 2599619 2600180 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584575 S 3 0 1 TTC34 HuRef nsv159383 1 2600428 2606129 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177961 M 24 TTC34 esv989273 1 2601373 2604262 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575900 S 3 0 1 TTC34 HuRef esv6961 1 2605829 2618891 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29402 S 1 0 1 TTC34 SJK nsv159584 1 2606315 2606675 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178162 M 24 TTC34 nsv6964 1 2606625 2608044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6711 S 9 1 0 TTC34 NA12156 nsv160877 1 2607837 2613499 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179455 M 24 TTC34 nsv7534 1 2608380 2611159 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4235 S 9 1 0 TTC34 NA12878 nsv160247 1 2610167 2612535 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178825 M 24 TTC34 nsv160029 1 2612675 2618697 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178607 M 24 TTC34 nsv160879 1 2612977 2615742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179457 M 24 TTC34 nsv159137 1 2613123 2613243 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177715 M 24 TTC34 nsv160272 1 2613789 2622864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178850 M 24 TTC34 nsv160341 1 2616150 2617033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178919 M 24 TTC34 esv6481 1 2619841 2620149 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28922 S 1 0 1 TTC34 SJK esv1095177 1 2622421 2622421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698632 S 2 1 0 TTC34 HuRef nsv160000 1 2622651 2622850 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178578 M 24 TTC34 nsv159461 1 2623124 2623966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178039 M 24 TTC34 esv23086 1 2674115 2684820 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10077,esv19931 M 451 12 2 TTC34 NA07037,NA12287,NA12489,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19190,NA19225,NA19240 nsv821258 1 2674115 2684900 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420624 S 1 1 0 TTC34 NA10851 esv1006680 1 2679384 2679543 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585900 S 3 0 1 TTC34 HuRef esv1125194 1 2679971 2680937 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352306 S 2 0 1 TTC34 HuRef nsv871110 1 2690232 2787716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585775 S 6533 0 1 TTC34 IS37646 nsv871406 1 2703187 2842567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580801 S 6533 0 1 "" IS35484 nsv469835 1 2730561 2912411 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649856 M 265 0 1 Samples from several populations that are part of the HapMap project. "" nsv870889 1 2744372 2995991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538561 S 6533 0 1 ACTRT2,FLJ42875,PRDM16 MS13770 dgv87n71 1 2744372 3220404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871468,nsv871921 M 6533 0 2 ACTRT2,FLJ42875,MIR4251,PRDM16 MS10311,MS17208 esv2455629 1 2755817 2756685 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201421 S 1 1 0 "" NA18507 esv1778376 1 2755889 2755889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921204 S 2 1 0 "" HuRef esv2606115 1 2758147 2759611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324371 S 1 0 1 "" NA18507 esv1145877 1 2758505 2758505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076825 S 2 1 0 "" HuRef nsv455662 1 2759402 2819411 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533180 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00515 esv1008548 1 2762644 2765985 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564145 S 3 1 0 "" HuRef nsv870507 1 2768903 2832130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530404 S 6533 0 1 "" MS10311 nsv521946 1 2776953 2778968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694715 S 2026 0 1 "" nsv871556 1 2776953 2873718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509714 S 6533 0 1 "" SP54956 dgv88n71 1 2778968 2849584 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870985,nsv870651,nsv871834 M 6533 0 6 "" IS33684,IS39258,MS11579,MS12262,MS13727,MS15835 nsv870499 1 2819411 2891988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572107 S 6533 0 1 "" IS32888 nsv871683 1 2825552 2995991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543342 S 6533 0 1 ACTRT2,FLJ42875,PRDM16 MS16153 nsv159525 1 2827696 2827763 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178103 M 24 "" esv1009726 1 2855998 2856144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577776 S 3 0 1 "" HuRef esv1533261 1 2856232 2856379 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287368 S 2 0 1 "" HuRef esv2132425 1 2866308 2866755 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889243 S 1 0 1 "" NA18507 esv3109 1 2866419 2866691 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25550 S 1 0 1 Single Asian sample YH "" YH esv993932 1 2866454 2866573 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566726 S 3 0 1 "" HuRef esv1703346 1 2866461 2866581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656039 S 2 0 1 "" HuRef nsv871484 1 2869500 2909010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544213,nssv1576876 M 6533 0 2 "" IS34304,MS16315 nsv870611 1 2869500 2927172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584760 S 6533 0 1 "" IS37172 dgv89n71 1 2869500 3010106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871673,nsv870537,nsv870817 M 6533 0 4 ACTRT2,FLJ42875,PRDM16 IS33504,IS34235,IS37646,MS10123 nsv871581 1 2869500 3636151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549598 S 6533 0 1 ACTRT2,ARHGEF16,FLJ42875,MEGF6,MIR4251,MIR551A,PRDM16,TP73,TPRG1L,WRAP73 MS18276 nsv470686 1 2879437 2973947 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547673 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTRT2,FLJ42875 HGDP00978 esv25503 1 2882654 2884779 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21208 S 451 0 2 "" NA12006,NA18907 dgv90n71 1 2886595 2934387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871584,nsv871869 M 6533 0 2 ACTRT2 IS35484,IS39233 esv7294 1 2901349 2901716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29735 S 1 0 1 "" SJK esv4855 1 2901350 2901794 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27296 S 1 0 1 Single Asian sample YH "" YH nsv829759 1 2913009 3000997 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450961,nssv1450850 M 95 0 2 ACTRT2,FLJ42875,PRDM16 dgv91n71 1 2918281 2995991 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871476,nsv871962 M 6533 0 2 ACTRT2,FLJ42875,PRDM16 IS34304,IS40799 esv1972331 1 2922693 2923095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751842 S 1 0 1 "" NA18507 esv2494725 1 2931995 2932984 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336919 S 1 1 0 "" NA18507 nsv871668 1 2941694 3010106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509715 S 6533 0 1 FLJ42875,PRDM16 SP54956 nsv160478 1 2949127 2949127 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179056 M 24 "" nsv871200 1 2964712 3037112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574982 S 6533 0 1 FLJ42875,MIR4251,PRDM16 IS33684 nsv824697 1 2965717 2984572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426367 S 31 1 0 FLJ42875,PRDM16 AK6 dgv92n71 1 3037112 3199783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871419,nsv871104 M 6533 0 2 PRDM16 MS10123,MS16153 nsv871578 1 3047521 3121095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544214 S 6533 0 1 PRDM16 MS16315 nsv457884 1 3052221 3094490 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534983 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP01234 nsv871691 1 3070715 3121095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592086 S 6533 0 1 PRDM16 IS39233 esv22935 1 3071567 3072666 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20220 S 451 5 0 PRDM16 NA07037,NA12004,NA12828,NA18523,NA19240 nsv458995 1 3073572 3103540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535843 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP00814 esv25107 1 3073812 3074747 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12712 S 451 1 0 PRDM16 NA12156 esv1279453 1 3074394 3074630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971964 S 2 0 1 PRDM16 HuRef esv1001450 1 3087258 3088463 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586288 S 3 0 1 PRDM16 HuRef esv26942 1 3087323 3088663 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18850 S 451 6 0 PRDM16 NA11931,NA12004,NA12006,NA12287,NA12776,NA15510 esv2447933 1 3087770 3087831 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170486 S 1 0 1 PRDM16 NA18507 nsv160334 1 3087875 3087875 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178912 M 24 PRDM16 nsv871860 1 3091213 3152069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585777 S 6533 0 1 PRDM16 IS37646 nsv829870 1 3116665 3245948 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451072,nssv1451183,nssv1451405,nssv1451294 M 95 0 4 PRDM16 esv272780 1 3120199 3120284 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581108 S 7 1 0 Samples from several populations that are part of the HapMap project. PRDM16 NA19240 nsv870780 1 3130324 3198235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573729 S 6533 0 1 PRDM16 IS33504 nsv527875 1 3134605 3198690 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704374 S 2026 0 1 PRDM16 nsv829981 1 3142452 3323676 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441607,nssv1441530,nssv1441641,nssv1441519,nssv1441618,nssv1441563,nssv1441652,nssv1441663,nssv1441574,nssv1441541,nssv1441630,nssv1441585,nssv1441674,nssv1441685,nssv1441596,nssv1441552 M 95 0 16 PRDM16 nsv870698 1 3152069 3194003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580803 S 6533 0 1 PRDM16 IS35484 esv2639320 1 3166925 3167569 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229663 S 1 1 0 PRDM16 NA18507 nsv870992 1 3167971 3225901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532356 S 6533 0 1 PRDM16 MS10769 dgv93n71 1 3171275 3200810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871315,nsv871128,nsv871225 M 6533 0 4 PRDM16 IS32322,IS33684,IS34304,MS16315 dgv94n71 1 3174715 3248973 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871593,nsv871677 M 6533 0 2 PRDM16 IS39233,MS11306 nsv871025 1 3187607 3199783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578969 S 6533 0 1 PRDM16 IS35007 dgv6n67 1 3199718 3201188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824808,nsv824919 M 31 0 2 PRDM16 AK14,NA18552 nsv7645 1 3203967 3239047 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4419 S 9 1 0 PRDM16 NA12878 nsv161030 1 3204425 3204425 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179608 M 24 PRDM16 esv2582992 1 3205073 3207155 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311128 S 1 0 1 PRDM16 NA18507 esv2000244 1 3205391 3206316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511826 S 1 0 1 PRDM16 NA18507 nsv511673 1 3205467 3207548 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626311 S 1 0 1 PRDM16 1 esv1917341 1 3205479 3206076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748244 S 1 0 1 PRDM16 NA18507 esv22281 1 3205520 3206970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11880 S 451 0 11 PRDM16 NA11894,NA12004,NA12006,NA12044,NA12489,NA12878,NA15510,NA18502,NA18511,NA18861,NA19240 nsv830092 1 3207806 3373233 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441785,nssv1441696,nssv1441818,nssv1441718,nssv1441729,nssv1441707,nssv1441741,nssv1441796,nssv1441829,nssv1441752,nssv1441840,nssv1441763,nssv1441807,nssv1441774 M 95 1 13 ARHGEF16,PRDM16 nsv522146 1 3217048 3218775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694919 S 2026 0 1 PRDM16 dgv95n71 1 3217048 3548088 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870630,nsv871552 M 6533 0 2 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 IS31045,MS11237 esv998521 1 3232455 3232513 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584219 S 3 0 1 PRDM16 HuRef esv1330141 1 3232469 3232528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645168 S 2 0 1 PRDM16 HuRef nsv526836 1 3248973 3249043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703193 S 2026 0 1 PRDM16 nsv870990 1 3249229 3273388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530406 S 6533 0 1 PRDM16 MS10311 dgv96n71 1 3249229 3743673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870694,nsv870633 M 6533 0 2 ARHGEF16,CCDC27,CEP104,LOC388588,LRRC47,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 MS16153,MS17208 nsv871228 1 3259688 3339373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572108 S 6533 0 1 PRDM16 IS32888 dgv97n71 1 3259688 3454311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871407,nsv870933,nsv871718 M 6533 0 3 ARHGEF16,MEGF6,PRDM16 IS37646,IS38176,MS13727 nsv470687 1 3262923 3669634 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547683,nssv547684,nssv547677,nssv547686,nssv547680,nssv547674,nssv547679,nssv547681,nssv547685,nssv547682,nssv547675,nssv547676 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF16,CCDC27,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 HGDP00288,HGDP00298,HGDP00302,HGDP00546,HGDP00550,HGDP00657,HGDP00825,HGDP00978 dgv12e1 1 3278798 3538713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv386,essv3804 M 271 0 0 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 NA18943 nsv459950 1 3279589 3290990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536592 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM16 HGDP00788 dgv98n71 1 3279831 3346265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871241,nsv871322,nsv871347,nsv871692,nsv871159 M 6533 0 9 PRDM16 IS32841,IS33178,IS33601,IS33684,IS33797,IS39233,IS40230,MS13095,MS16315 dgv99n71 1 3279831 3701549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871793,nsv871020,nsv871038,nsv870744,nsv871608,nsv871154 M 6533 0 6 ARHGEF16,CCDC27,LOC388588,LRRC47,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 IS33684,IS35484,IS39233,MS10123,MS10311,MS13770 nsv522900 1 3283525 3284832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698558 S 2026 0 1 PRDM16 dgv100n71 1 3287498 3330715 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871231,nsv871367,nsv871054,nsv870935 M 6533 0 4 PRDM16 IS32322,IS34304,SP54956,SP54988 nsv524467 1 3297894 3298358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700403 S 2026 0 1 PRDM16 dgv1n21 1 3297894 3304456 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521921,nsv527139 M 2026 2 0 PRDM16 dgv101n71 1 3308392 3431124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870718,nsv870839 M 6533 0 2 ARHGEF16,MEGF6,PRDM16 IS40396,IS41634 esv1000452 1 3324255 3329826 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565499 S 3 0 1 PRDM16 HuRef esv4712 1 3339813 3340125 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27153 S 1 0 1 Single Asian sample YH PRDM16 YH dgv102n71 1 3349547 3462788 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870845,nsv870661,nsv870638,nsv870940,nsv870682,nsv871705,nsv871422,nsv871384 M 6533 0 13 ARHGEF16,MEGF6 IS30369,IS32737,IS33162,IS33248,IS33504,IS34005,IS35007,IS37172,IS39417,IS40230,IS40799,IS41410,IS41894 nsv871243 1 3352116 3413327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574873,nssv1547669 M 6533 0 2 ARHGEF16,MEGF6 IS33665,MS17522 nsv871334 1 3352116 3431124 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580239,nssv1589911,nssv1572109,nssv1589730,nssv1591438 M 6533 1 4 ARHGEF16,MEGF6 IS32888,IS35245,IS38403,IS38430,IS38840 dgv103n71 1 3352116 3582296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870571,nsv870882 M 6533 0 3 ARHGEF16,MEGF6,MIR551A,TP73,TPRG1L,WRAP73 MS11306,MS13095,MS16315 nsv830203 1 3352798 3514176 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441852,nssv1441863 M 95 0 2 ARHGEF16,MEGF6,MIR551A nsv160351 1 3356879 3356879 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178929 M 24 "" dgv104n71 1 3358003 3431124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870760,nsv871336,nsv871042,nsv871094 M 6533 0 11 ARHGEF16,MEGF6 IS33601,IS34057,IS36876,IS37577,IS37874,IS39258,IS39817,IS41648,MS10126,MS11669,MS12202 dgv105n71 1 3371558 3521455 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871380,nsv870733 M 6533 0 2 ARHGEF16,MEGF6,MIR551A MS10769,MS11579 esv1571906 1 3381505 3381565 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030830 S 2 0 1 ARHGEF16 HuRef nsv299 1 3383352 3419129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9111,nssv4678,nssv4519 M 9 3 0 ARHGEF16,MEGF6 NA12156,NA12878,NA19129 dgv7n67 1 3390933 3395522 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825031,nsv825364,nsv825142 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3390933 3395784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434860 S 31 0 1 MEGF6 NA18942 dgv106n71 1 3395156 3454311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871122,nsv871229,nsv870890 M 6533 0 3 MEGF6 IS32841,IS37985,MS19630 esv1595391 1 3408473 3408473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895480 S 2 1 0 MEGF6 HuRef nsv818333 1 3431124 3446731 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417807 S 112 0 1 MEGF6 NA18853 nsv10494 1 3435994 3441816 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21444,nssv21442 M 31 0 2 Samples from several populations that are part of the HapMap project. MEGF6 NA18942,NA18975 nsv519082 1 3445617 3446452 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696553 S 2026 1 0 MEGF6 nsv870784 1 3470009 3489106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500373 S 6533 0 1 MEGF6 SP50159 dgv107n71 1 3470009 3510731 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871341,nsv871568 M 6533 0 2 MEGF6 IS35007,MS10698 dgv108n71 1 3470009 3536795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870915,nsv870599 M 6533 0 3 MEGF6,TPRG1L IS32918,IS33162,IS40799 nsv871823 1 3470009 3548088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564278 S 6533 0 1 MEGF6,TPRG1L,WRAP73 IS30197 nsv871942 1 3470009 3722567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573731 S 6533 0 1 CCDC27,CEP104,LOC388588,LRRC47,MEGF6,TP73,TP73-AS1,TPRG1L,WRAP73 IS33504 nsv870516 1 3472448 3521455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564417 S 6533 1 0 MEGF6 IS30210 nsv818444 1 3476986 3500493 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417551 S 112 0 1 MEGF6 NA18971 dgv109n71 1 3476986 3562634 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871408,nsv871615,nsv871674,nsv870834,nsv871297,nsv871086 M 6533 0 8 MEGF6,TP73,TPRG1L,WRAP73 IS32737,IS33665,IS34908,IS39258,IS40502,IS41243,IS41410,SP54988 dgv110n71 1 3476986 3652705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871095,nsv871397,nsv870800 M 6533 0 6 MEGF6,TP73,TP73-AS1,TPRG1L,WRAP73 IS32322,IS32841,IS32888,IS33455,IS34304,IS37646 esv1003247 1 3485168 3485168 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570647 S 3 1 0 MEGF6 HuRef esv1491138 1 3485189 3485189 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621012 S 2 1 0 MEGF6 HuRef esv2470115 1 3489252 3492632 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366115 S 1 0 1 MEGF6 NA18507 esv28730 1 3489592 3490491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13258 S 451 0 3 MEGF6 NA12489,NA18861,NA18916 esv1062679 1 3489887 3489959 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165604 S 2 0 1 MEGF6 HuRef esv1072885 1 3494306 3494306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183764 S 2 1 0 MEGF6 HuRef nsv160325 1 3494307 3494307 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178903 M 24 MEGF6 nsv160986 1 3498049 3498114 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179564 M 24 MEGF6 nsv160621 1 3498071 3498136 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179199 M 24 MEGF6 esv1645766 1 3498280 3498346 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161797 S 2 0 1 MEGF6 HuRef dgv111n71 1 3501155 3627319 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870588,nsv870737 M 6533 0 2 MEGF6,TP73,TPRG1L,WRAP73 IS34235,IS40230 dgv112n71 1 3502660 3582296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871461,nsv871548 M 6533 0 3 MEGF6,TP73,TPRG1L,WRAP73 IS34407,IS38176,MS11726 nsv870859 1 3530234 3562634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509717 S 6533 0 1 TP73,TPRG1L,WRAP73 SP54956 nsv410 1 3541511 3573504 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10069 S 9 1 0 TP73,WRAP73 NA18956 esv2247294 1 3546704 3547177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665883 S 1 0 1 WRAP73 NA18507 esv2489412 1 3549596 3551258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381740 S 1 0 1 WRAP73 NA18507 esv29463 1 3550105 3550815 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11696 S 451 0 1 WRAP73 NA15510 esv1007908 1 3550307 3550816 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571323 S 3 0 1 WRAP73 HuRef nsv830314 1 3567200 3710699 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441974,nssv1441951,nssv1441963,nssv1441985,nssv1441907,nssv1441940,nssv1441874,nssv1441929,nssv1441896,nssv1441885,nssv1441918,nssv1441996 M 95 1 11 CCDC27,LOC388588,LRRC47,TP73,TP73-AS1 dgv13e1 1 3574901 3645396 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1254,essv20812 M 271 0 0 TP73,TP73-AS1 NA10855 dgv113n71 1 3582296 3652705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870960,nsv870551,nsv870500 M 6533 0 4 TP73,TP73-AS1 IS30197,IS32737,IS37985,IS38388 nsv460061 1 3586877 3661651 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536686 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC27,TP73,TP73-AS1 HGDP00787 nsv870977 1 3586877 3685860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533520 S 6533 0 1 CCDC27,LOC388588,TP73,TP73-AS1 MS11237 esv1394802 1 3600206 3600206 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024850 S 2 1 0 TP73 HuRef esv1032022 1 3600542 3600542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640841 S 2 1 0 TP73 HuRef esv1115862 1 3600687 3600687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358577 S 2 1 0 TP73 HuRef esv1634361 1 3600759 3601179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887450 S 2 0 1 TP73 HuRef nsv871368 1 3606461 3652705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574105 S 6533 0 1 TP73,TP73-AS1 IS33514 nsv871021 1 3620336 3643286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500428 S 6533 0 1 TP73,TP73-AS1 SP50159 esv994567 1 3641983 3645230 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565096 S 3 0 1 TP73,TP73-AS1 HuRef nsv830425 1 3647313 3748249 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442007 S 95 1 0 CCDC27,CEP104,LOC388588,LRRC47,TP73-AS1 nsv871323 1 3647619 3777609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530408 S 6533 0 1 CCDC27,CEP104,DFFB,LOC388588,LRRC47,TP73-AS1 MS10311 dgv114n71 1 3674045 3743673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871435,nsv871693 M 6533 0 2 CCDC27,CEP104,LOC388588,LRRC47 MS10769,MS21402 esv1678500 1 3704149 3704149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118454 S 2 1 0 "" HuRef esv1763700 1 3706801 3706951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015442 S 2 0 1 "" HuRef nsv509590 1 3732881 3808916 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623769 S 4 1 0 C1orf174,CEP104,DFFB,LOC100133612 NA18994 esv1948239 1 3738731 3739075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952306 S 1 0 1 CEP104 NA18507 esv1074506 1 3738857 3738857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942170 S 2 1 0 CEP104 HuRef nsv159844 1 3749765 3751122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178422 M 24 CEP104 esv1467252 1 3775096 3775096 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229403 S 2 1 0 DFFB HuRef esv1008825 1 3780687 3780843 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580646 S 3 0 1 DFFB HuRef esv1273516 1 3780687 3780844 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131794 S 2 0 1 DFFB HuRef esv992605 1 3780687 3780921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585949 S 3 0 1 DFFB HuRef esv26417 1 3798297 3799062 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16927 S 451 2 0 C1orf174 NA19099,NA19225 esv1352346 1 3798844 3798936 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067715 S 2 0 1 C1orf174 HuRef nsv460172 1 3913951 3980640 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536774 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00586 nsv871603 1 3915242 3989473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543345 S 6533 0 1 "" MS16153 nsv870560 1 3916997 4028383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546437 S 6533 0 1 "" MS17208 nsv521 1 3943724 3947893 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1327 S 9 1 0 "" NA19240 esv26736 1 3944616 3945124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11152 S 451 0 1 "" NA18916 esv1003004 1 3959687 3959804 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578431 S 3 0 1 "" HuRef esv1647727 1 3959695 3959813 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880229 S 2 0 1 "" HuRef nsv159163 1 3959696 3959813 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177741 M 24 "" nsv870482 1 4011047 4113891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522410 S 6533 0 1 "" SP53023 dgv115n71 1 4011047 4212065 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870878,nsv870662,nsv871931,nsv871031 M 6533 0 8 "" SP50822,SP52562,SP54050,SP54072,SP54845,SP55265,SP57243,SP81203 nsv460283 1 4017414 4199587 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536884 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00817 nsv520675 1 4020171 4022959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697551 S 2026 0 1 "" esv21720 1 4023703 4027828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12064 S 451 0 3 "" NA12749,NA12878,NA19108 esv5203 1 4024404 4024858 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27644 S 1 0 1 Single Asian sample YH "" YH nsv511674 1 4025102 4025799 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626312 S 1 0 1 "" 1 esv1280652 1 4025195 4025292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810874 S 2 0 1 "" HuRef esv5764 1 4026050 4026650 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28205 S 1 0 1 "" SJK esv23365 1 4036853 4038828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13534,esv16191 M 451 0 13 "" NA12004,NA12006,NA12239,NA12287,NA12489,NA12828,NA18505,NA18858,NA18907,NA18909,NA18916,NA19099,NA19147 esv1000769 1 4037161 4037566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578155 S 3 0 1 "" HuRef esv1100125 1 4037241 4037647 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668289 S 2 0 1 "" HuRef nsv821406 1 4037678 4038778 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420735 S 1 1 0 "" NA10851 esv1767486 1 4038421 4038421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227901 S 2 1 0 "" HuRef nsv509701 1 4042750 4119760 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619763 S 4 1 0 "" NA10860 esv2637444 1 4054369 4055994 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194644 S 1 0 1 "" NA18507 esv2259067 1 4054830 4055525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563770 S 1 0 1 "" NA18507 esv3887 1 4054909 4055444 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26328 S 1 0 1 Single Asian sample YH "" YH esv7346 1 4055023 4055323 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29787 S 1 0 1 "" SJK esv1112137 1 4096657 4096657 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248978 S 2 1 0 "" HuRef esv7714 1 4104361 4104429 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30155 S 1 1 0 "" SJK esv2619231 1 4104535 4104584 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231288 S 1 0 1 "" NA18507 nsv527177 1 4116722 4126954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703573 S 2026 0 1 "" nsv871697 1 4127324 4200666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522411 S 6533 0 1 "" SP53023 nsv830536 1 4139870 4285041 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442018 S 95 1 0 "" nsv871218 1 4163857 4208143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517006 S 6533 0 1 "" SP57027 nsv830647 1 4177167 4347440 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442029 S 95 1 0 "" esv25427 1 4184495 4185865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14207 S 451 0 1 "" NA19240 esv272116 1 4188287 4188632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511379,essv2499471,essv2512478,essv2510776,essv2504302,essv2493758,essv2498493,essv2507275,essv2507417,essv2506563,essv2509525,essv2497030,essv2512043,essv2501977,essv2498257 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190,NA19238,NA19239,NA19240 esv273348 1 4188288 4188633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584271,essv2584599,essv2583870 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv871137 1 4243808 4622906 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554375 S 6533 1 0 AJAP1,LOC284661 MS20753 nsv159648 1 4262904 4262904 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178226 M 24 "" esv28339 1 4291441 4304135 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14362,esv19856,esv11599,esv17217,esv17261 M 451 9 24 "" NA06985,NA11894,NA11931,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv511131 1 4292371 4295672 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626587 S 1 0 1 "" 1 esv2505018 1 4296153 4296861 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228093 S 1 1 0 "" NA18507 esv1619694 1 4296448 4296448 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918928 S 2 1 0 "" HuRef esv275066 1 4320920 4323975 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585519 S 1250 0 1 "" nsv830759 1 4347441 4569221 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442051,nssv1442040 M 95 0 2 LOC284661 esv2213507 1 4380017 4380434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764956 S 1 0 1 LOC284661 NA18507 esv1543124 1 4380214 4380276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354508 S 2 0 1 LOC284661 HuRef esv274284 1 4431874 4432099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579261,essv2579740 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv460394 1 4473849 4491976 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536980 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01098 nsv871602 1 4478355 4568530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558401 S 6533 1 0 "" MS23257 esv1006796 1 4495890 4501949 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586737 S 3 0 1 "" HuRef esv21437 1 4497777 4503228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13444 S 451 0 1 "" NA18861 esv2469165 1 4503150 4504226 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375102 S 1 1 0 "" NA18507 esv995887 1 4503622 4503622 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569284 S 3 1 0 "" HuRef esv1262838 1 4503642 4503642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924372 S 2 1 0 "" HuRef nsv871520 1 4573797 4617251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543346 S 6533 0 1 AJAP1 MS16153 esv2398993 1 4576173 4576682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895725 S 1 0 1 "" NA18507 nsv825475 1 4612979 4617295 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433404 S 31 1 0 AJAP1 NA18526 nsv871046 1 4634374 4663261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505399 S 6533 0 1 AJAP1 SP53458 esv1009421 1 4634634 4637986 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565733 S 3 0 1 AJAP1 HuRef nsv460505 1 4637391 4653917 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537066 S 1557 0 1 AJAP1 1780862093_A nsv520031 1 4647597 4650890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701964,nssv660165,nssv683157 M 2026 0 3 AJAP1 nsv521535 1 4647597 4672577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694458 S 2026 0 1 AJAP1 nsv460617 1 4650890 4686979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537158 S 1557 0 1 AJAP1 NINDS_66 nsv830870 1 4695246 4881159 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442062 S 95 0 1 AJAP1 esv2651800 1 4700006 4701050 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191133 S 1 1 0 AJAP1 NA18507 nsv830981 1 4722125 4898111 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442074 S 95 1 0 AJAP1 nsv870493 1 4761020 4794660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533734 S 6533 0 1 "" MS11306 nsv521327 1 4772431 4774365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697933 S 2026 0 1 "" nsv632 1 4809273 4813432 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2960 S 9 1 0 "" NA18555 nsv521101 1 4931239 4954210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687649,nssv682279 M 2026 0 2 "" esv2483299 1 4953212 4954328 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225073 S 1 0 1 "" NA18507 nsv525603 1 4968070 4968815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701747 S 2026 0 1 "" esv271127 1 4989857 4990019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501380 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19093 dgv116n71 1 5003897 5081475 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870687,nsv870969 M 6533 4 0 "" IS33850,MS20009,MS21515,SP56248 nsv523740 1 5013771 5070572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699556 S 2026 1 0 "" nsv460839 1 5013771 5073664 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537339 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00529 esv32797 1 5027130 5068705 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101012 S 51 0 1 "" 21693 esv1109223 1 5035641 5035641 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201133 S 2 1 0 "" HuRef nsv520723 1 5051105 5064284 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697576 S 2026 1 0 "" esv2532762 1 5071907 5072624 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197882 S 1 1 0 "" NA18507 esv1289856 1 5072350 5072350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630167 S 2 1 0 "" HuRef esv2464561 1 5080714 5080790 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250667 S 1 0 1 "" NA18507 esv27138 1 5096531 5097274 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13523 S 451 0 1 "" NA19240 esv2465114 1 5120011 5120756 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290540 S 1 1 0 "" NA18507 esv2918 1 5120121 5120467 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25359 S 1 0 1 Single Asian sample YH "" YH nsv521242 1 5183802 5186968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697864 S 2026 0 1 "" dgv14e1 1 5189627 5459265 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2534,esv329 M 271 0 0 "" NA19003 nsv870776 1 5198919 5220394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540994 S 6533 0 1 "" MS15145 esv1963263 1 5205884 5206310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703012 S 1 0 1 "" NA18507 nsv460950 1 5230617 5248130 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537425 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00998 esv34107 1 5267544 5414367 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv10605 1 5293450 5294873 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28532,nssv29260,nssv21430,nssv24593 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12802,NA18504 esv2259894 1 5396616 5397044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831068 S 1 0 1 "" NA18507 nsv160607 1 5396755 5396828 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179185 M 24 "" esv1028089 1 5396817 5396892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224996 S 2 0 1 "" HuRef nsv10716 1 5397617 5399397 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26903 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv831092 1 5415955 5566331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442085 S 95 1 0 MIR4417 esv2607553 1 5482096 5482197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236789 S 1 0 1 "" NA18507 nsv527712 1 5546270 5548153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704192 S 2026 0 1 MIR4417 dgv2n21 1 5547116 5548153 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519513,nsv526005 M 2026 0 4 "" nsv871264 1 5550499 5566345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503204 S 6533 0 1 "" SP52003 esv1008325 1 5575936 5575936 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577403 S 3 1 0 "" HuRef esv1402936 1 5575937 5575937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729262 S 2 1 0 "" HuRef esv2165265 1 5585810 5586177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655011 S 1 0 1 "" NA18507 esv2622825 1 5586421 5586481 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341576 S 1 0 1 "" NA18507 esv2474640 1 5654415 5657276 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304912 S 1 1 0 "" NA18507 nsv871747 1 5671670 5745956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537045 S 6533 0 1 "" MS13095 nsv523099 1 5681359 5687940 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698792 S 2026 1 0 "" nsv521706 1 5713085 5713242 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698329 S 2026 1 0 "" esv2165525 1 5726629 5727090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933008 S 1 0 1 "" NA18507 nsv470688 1 5733711 5836208 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547687,nssv547688 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00546,HGDP00550 nsv508723 1 5759862 5954595 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623770,nssv619765,nssv619764 M 4 2 0 MIR4689,NPHP4 NA10860,NA18994 esv2444036 1 5785240 5785988 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245268 S 1 1 0 "" NA18507 esv2487333 1 5791947 5792087 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391968 S 1 0 1 "" NA18507 esv28776 1 5799180 5800681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16704,esv10860,esv18182 M 451 0 7 "" NA07045,NA12006,NA12489,NA12878,NA18508,NA18523,NA19147 nsv871294 1 5809727 5867308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549599,nssv1538563 M 6533 0 2 MIR4689,NPHP4 MS13770,MS18276 nsv831203 1 5812677 5950549 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442118,nssv1442096,nssv1442107 M 95 0 3 MIR4689,NPHP4 esv2494780 1 5814791 5815226 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176671 S 1 1 0 "" NA18507 nsv512712 1 5814902 5815025 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625336 S 1 1 0 "" 1 esv1660216 1 5814954 5814954 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159802 S 2 1 0 "" HuRef nsv871389 1 5825820 5856823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597260 S 6533 0 1 MIR4689,NPHP4 IS40799 nsv518390 1 5828924 5836208 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695820 S 2026 1 0 "" nsv871082 1 5828924 6167730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530409 S 6533 0 1 CHD5,KCNAB2,MIR4689,NPHP4,RPL22 MS10311 nsv871579 1 5836208 5922716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532359 S 6533 0 1 MIR4689,NPHP4 MS10769 nsv825586 1 5856348 5857220 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423942 S 31 0 1 NPHP4 NA18582 esv267940 1 5856856 5857155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546492,essv2526292,essv2542430,essv2544022,essv2556816,essv2568304,essv2531812,essv2577574,essv2548522,essv2521758,essv2550523,essv2525217,essv2534982,essv2520650,essv2577694,essv2565503,essv2576291,essv2520239,essv2537454,essv2528266,essv2546759,essv2557449,essv2556995,essv2552344,essv2550074,essv2537008,essv2538991,essv2561318,essv2566798,essv2551010,essv2528121,essv2533980,essv2538589,essv2526664,essv2560651,essv2560838,essv2560424,essv2538004,essv2548990,essv2563519 M 157 40 0 Samples from several populations that are part of the HapMap project. NPHP4 NA07000,NA07037,NA10847,NA11881,NA11918,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA12812,NA12814,NA12815,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 esv274438 1 5856861 5857150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581767,essv2582322,essv2582865 M 7 3 0 Samples from several populations that are part of the HapMap project. NPHP4 NA12878,NA12891,NA12892 nsv831314 1 5872056 6045644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442151,nssv1442162,nssv1442129,nssv1442140 M 95 0 4 KCNAB2,NPHP4 nsv743 1 5884716 5929974 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9178 S 9 0 1 NPHP4 NA12156 nsv870809 1 5922716 6010951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534674 S 6533 0 1 KCNAB2,NPHP4 MS11726 nsv506919 1 5958193 5964193 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623262 S 4 1 0 NPHP4 NA18994 esv33437 1 5960156 5960624 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101160,essv101040,essv94798,essv94307,essv97813,essv95744,essv93021,essv94480,essv92840,essv97100,essv93510,essv92517,essv99200,essv100607 M 51 14 0 NPHP4 21618,21693,21791,21808,21837,21841,21863,21932,21939,22075,22128,22233,22275,22298 nsv520207 1 5965521 5968851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697281 S 2026 0 1 NPHP4 nsv871226 1 5968851 6135457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549600 S 6533 0 1 CHD5,KCNAB2,NPHP4 MS18276 esv2470104 1 5987298 5989575 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382298 S 1 0 1 KCNAB2 NA18507 esv22772 1 5987337 5989520 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19261,esv17376,esv15196 M 451 27 1 KCNAB2 NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 nsv159264 1 5987880 5988077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177842 M 24 KCNAB2 nsv511675 1 5988444 5989387 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626313 S 1 0 1 KCNAB2 1 esv7234 1 5988558 5989006 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29675 S 1 0 1 KCNAB2 SJK nsv511127 1 5988686 5993457 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626143 S 1 0 1 KCNAB2 1 nsv871698 1 6010951 6500352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546438 S 6533 0 1 ACOT7,CHD5,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,MIR4252,PLEKHG5,RNF207,RPL22,TNFRSF25 MS17208 nsv461283 1 6030964 6106679 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537694 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHD5,KCNAB2 HGDP00491 dgv117n71 1 6039758 6119456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871316,nsv871032 M 6533 0 2 CHD5,KCNAB2 IS39233,MS21124 dgv118n71 1 6063912 6135457 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870519,nsv871667,nsv871573,nsv871138 M 6533 0 4 CHD5,KCNAB2 IS32737,IS32841,IS33684,IS41894 nsv871817 1 6063912 6167730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597261 S 6533 0 1 CHD5,KCNAB2,RPL22 IS40799 nsv870945 1 6063912 6379059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529774 S 6533 0 1 ACOT7,CHD5,GPR153,HES3,ICMT,KCNAB2,RNF207,RPL22 MS10123 nsv470689 1 6071709 6156160 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547693,nssv547692,nssv547691,nssv547694 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHD5,KCNAB2 HGDP00288,HGDP00323,HGDP00657,HGDP01397 dgv119n71 1 6081149 6500352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871215,nsv870643,nsv871265,nsv871659,nsv870602,nsv870634,nsv871174,nsv870777 M 6533 0 8 ACOT7,CHD5,ESPN,GPR153,HES2,HES3,ICMT,KCNAB2,MIR4252,PLEKHG5,RNF207,RPL22,TNFRSF25 IS32841,IS34005,IS37646,IS38176,IS39233,MS10311,MS16153,MS18276 nsv871337 1 6083662 6119456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509718 S 6533 0 1 CHD5,KCNAB2 SP54956 nsv825697 1 6084347 6085127 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431963 S 31 1 0 CHD5 NA18972 esv21998 1 6089305 6091890 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17786 S 451 1 0 CHD5 NA06985 nsv870818 1 6098076 6135457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584762 S 6533 0 1 CHD5 IS37172 nsv831425 1 6111938 6247065 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442196,nssv1442185,nssv1442173 M 95 0 3 ACOT7,CHD5,GPR153,HES3,ICMT,RNF207,RPL22 nsv818555 1 6112802 6135457 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417552 S 112 0 1 CHD5 NA18971 nsv854 1 6113852 6158730 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7151 S 9 0 1 CHD5 NA12156 nsv871123 1 6124832 6167730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572613,nssv1589064 M 6533 0 2 CHD5,RPL22 IS33162,IS38293 dgv120n71 1 6168958 6296061 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871491,nsv871597,nsv870577 M 6533 0 3 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 IS33455,IS33504,IS34235 dgv121n71 1 6175030 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871342,nsv871654 M 6533 0 4 ACOT7,GPR153,HES3,ICMT,RNF207,RPL22 IS30369,IS33239,IS37172,MS10769 dgv8n67 1 6203268 6246950 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825808,nsv825919 M 31 2 0 ACOT7,GPR153,HES3,ICMT,RNF207 AK6,NA18969 nsv508825 1 6203922 6269196 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623771 S 4 1 0 ACOT7,GPR153,HES3,ICMT,RNF207 NA18994 nsv871569 1 6214397 6310371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557673 S 6533 0 1 ACOT7,GPR153,HES3,ICMT MS22798 dgv122n71 1 6214397 6482950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871195,nsv870891,nsv871073 M 6533 0 4 ACOT7,ESPN,GPR153,HES2,HES3,ICMT,MIR4252,PLEKHG5,TNFRSF25 IS32322,IS33684,MS13095,MS13770 dgv123n71 1 6214657 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871272,nsv871369,nsv871090,nsv871616,nsv870672,nsv870972 M 6533 0 8 ACOT7,GPR153,HES3,ICMT SP51109,SP54593,SP54657,SP54725,SP54956,SP54967,SP54988,SP55019 nsv871385 1 6216477 6234603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511725 S 6533 0 1 GPR153,HES3,ICMT SP55056 nsv871646 1 6227499 6384117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572614 S 6533 0 1 ACOT7,GPR153,HES3 IS33162 dgv124n71 1 6227640 6247685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871571,nsv871034 M 6533 0 2 ACOT7,GPR153,HES3 SP54043,SP54173 nsv871266 1 6227640 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506331 S 6533 0 1 ACOT7,GPR153,HES3 SP54225 nsv526371 1 6229842 6289806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702667 S 2026 0 1 ACOT7,GPR153 nsv871324 1 6231157 6273763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509309 S 6533 0 1 ACOT7,GPR153 SP54782 nsv871592 1 6234603 6246918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518105 S 6533 0 1 GPR153 SP57469 nsv965 1 6235767 6280469 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7223 S 9 0 1 ACOT7,GPR153 NA12156 nsv871117 1 6238119 6252602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505815 S 6533 0 1 ACOT7,GPR153 SP53990 nsv519253 1 6245523 6252602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696748 S 2026 0 1 ACOT7 esv24092 1 6288906 6291480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18277 S 451 0 1 ACOT7 NA19240 nsv522013 1 6289806 6379059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694782 S 2026 0 1 ACOT7 nsv521525 1 6302194 6310371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698142 S 2026 0 1 ACOT7 nsv1076 1 6307937 6352169 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2226 S 9 0 1 ACOT7 NA18555 dgv125n71 1 6325607 6486743 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871801,nsv870578 M 6533 0 2 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 IS35484,IS40396 nsv523989 1 6333801 6379059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699845 S 2026 0 1 ACOT7 esv21684 1 6360781 6368422 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12785 S 451 0 1 ACOT7 NA12044 dgv2n27 1 6379059 6494762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461839,nsv461950,nsv461616,nsv461728 M 1557 0 4 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 esv29840 1 6381440 6382138 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11459 S 451 0 2 "" NA18517,NA18523 nsv508836 1 6389543 6483676 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619766 S 4 1 0 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 NA10860 esv25412 1 6399215 6444103 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14500 S 451 1 2 ESPN,HES2,MIR4252,TNFRSF25 NA12489,NA18916,NA19147 nsv871453 1 6399775 6409618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505916 S 6533 0 1 ESPN,HES2 SP54043 nsv871719 1 6399775 6486743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510638 S 6533 0 1 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 SP54988 nsv7880 1 6400615 6594561 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21438,nssv11789,nssv24605 M 31 1 2 Samples from several populations that are part of the HapMap project. ESPN,HES2,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 NA18517,NA18564,NA19173 nsv482179 1 6407435 6443590 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558540 S 1 1 0 ESPN,MIR4252 KB1 nsv831536 1 6411973 6587990 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442307,nssv1442340,nssv1442273,nssv1442362,nssv1442240,nssv1442318,nssv1442218,nssv1442351,nssv1442251,nssv1442373,nssv1442207,nssv1442229,nssv1442284,nssv1442262,nssv1442296,nssv1442329 M 95 0 16 ESPN,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 dgv9n67 1 6412513 6447077 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv470690 1 6416986 6494762 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547695 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPN,PLEKHG5,TNFRSF25 HGDP00553 nsv870465 1 6421441 6455722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509017,nssv1508766 M 6533 0 2 ESPN,PLEKHG5,TNFRSF25 SP54672,SP54725 dgv126n71 1 6421441 6500352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871254,nsv870922,nsv870746 M 6533 0 3 ESPN,PLEKHG5,TNFRSF25 MS16315,SP54043,SP54956 dgv127n71 1 6432145 6464917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870902,nsv870790 M 6533 0 2 ESPN,PLEKHG5,TNFRSF25 SP55019,SP55021 nsv470691 1 6442898 6500352 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547696 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPN,PLEKHG5,TNFRSF25 HGDP00978 dgv128n71 1 6444795 6457368 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871013,nsv871111,nsv870707,nsv871841,nsv871413 M 6533 0 8 PLEKHG5,TNFRSF25 SP54591,SP54593,SP54657,SP54750,SP54937,SP54967,SP55992,SP81010 nsv870716 1 6446017 6464917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509016 S 6533 0 1 PLEKHG5,TNFRSF25 SP54684 nsv462061 1 6446017 6503483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538332 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLEKHG5,TNFRSF25 HGDP00614 nsv1187 1 6470431 6490052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3152 S 9 1 0 PLEKHG5 NA12878 nsv831647 1 6508456 6570177 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442451,nssv1442518,nssv1442418,nssv1442429,nssv1442462,nssv1442529,nssv1442473,nssv1442395,nssv1442484,nssv1442540,nssv1442495,nssv1442384,nssv1442407,nssv1442506,nssv1442440 M 95 0 15 NOL9,TAS1R1,ZBTB48 esv1249079 1 6541559 6541559 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064753 S 2 1 0 TAS1R1 HuRef esv259781 1 6543027 6553006 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396471,essv2398444,essv2395903 M 144 0 0 Samples from several populations that are part of the HapMap project. TAS1R1 NA18517,NA18871,NA18945 dgv129n71 1 6546086 6643577 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871768,nsv871069 M 6533 0 2 DNAJC11,KLHL21,PHF13,TAS1R1,THAP3,ZBTB48 MS17208,MS18276 nsv871348 1 6562434 7032921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558402 S 6533 1 0 CAMTA1,DNAJC11,KLHL21,PHF13,THAP3,ZBTB48 MS23257 nsv870646 1 6565251 6575926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499683 S 6533 0 1 KLHL21,ZBTB48 SP50159 dgv130n71 1 6579827 6610945 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871056,nsv871742 M 6533 0 3 KLHL21,PHF13,THAP3 SP54043,SP54725,SP55021 nsv826253 1 6582832 6611290 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426369 S 31 1 0 KLHL21,PHF13,THAP3 AK6 nsv437199 1 6624738 6726334 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467080 S 60 0 1 Samples from several populations that are part of the HapMap project. DNAJC11 NA19205 esv2640779 1 6651194 6652460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234545 S 1 0 1 DNAJC11 NA18507 esv2237641 1 6651805 6652374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834781 S 1 0 1 DNAJC11 NA18507 nsv1298 1 6660795 6681039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4861 S 9 1 0 DNAJC11 NA19129 nsv525013 1 6679021 6683848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701050 S 2026 0 1 DNAJC11 esv28409 1 6685213 6686083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18257 S 451 0 1 "" NA18909 esv28362 1 6710103 6715982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14015 S 451 1 0 "" NA19225 nsv512713 1 6725094 6725389 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625337 S 1 1 0 "" 1 esv1464790 1 6725208 6725208 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709090 S 2 1 0 "" HuRef esv1979443 1 6781129 6781558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873252 S 1 0 1 CAMTA1 NA18507 esv1086035 1 6781239 6781418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780745 S 2 0 1 CAMTA1 HuRef esv999225 1 6781243 6781419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581910 S 3 0 1 CAMTA1 HuRef esv25521 1 6783932 6784505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20468 S 451 0 1 CAMTA1 NA18909 nsv871178 1 6809236 6894980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586580 S 6533 0 1 CAMTA1 IS37874 esv2556451 1 6923003 6923833 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345164 S 1 1 0 CAMTA1 NA18507 nsv512714 1 6923530 6923586 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625338 S 1 1 0 CAMTA1 1 esv1590628 1 6923582 6923582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106152 S 2 1 0 CAMTA1 HuRef esv28688 1 6945255 6946116 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12322 S 451 0 2 CAMTA1 NA12489,NA18517 esv2482000 1 6966217 6967286 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354983 S 1 1 0 CAMTA1 NA18507 esv988826 1 7000790 7000790 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566621 S 3 1 0 CAMTA1 HuRef nsv519205 1 7012803 7022247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696693 S 2026 0 1 CAMTA1 esv990496 1 7069978 7082370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563883 S 3 0 1 CAMTA1 HuRef esv2444029 1 7086693 7086841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208770 S 1 0 1 CAMTA1 NA18507 esv1124399 1 7097432 7097873 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044198 S 2 0 1 CAMTA1 HuRef nsv462394 1 7108912 7154071 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538567 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMTA1 HGDP00797 nsv871273 1 7179530 7249208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558403 S 6533 1 0 CAMTA1 MS23257 esv275496 1 7247055 7247995 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586154 S 1250 0 1 CAMTA1 nsv1410 1 7338213 7362575 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1411 S 9 1 0 CAMTA1 NA19240 nsv871464 1 7386962 7590933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530411 S 6533 0 1 CAMTA1 MS10311 nsv527338 1 7405633 7408904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703764 S 2026 0 1 CAMTA1 esv274189 1 7408744 7408958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580355 S 7 1 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA12891 esv269095 1 7408811 7409078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520936,essv2569345,essv2556155,essv2529481,essv2538855,essv2530281,essv2571096 M 157 7 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108,NA19141,NA19238 nsv831758 1 7413944 7594260 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442584,nssv1442562,nssv1442551,nssv1442573 M 95 1 3 CAMTA1 nsv871310 1 7415578 7448569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543348 S 6533 0 1 CAMTA1 MS16153 nsv871370 1 7427324 7449895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558404 S 6533 1 0 CAMTA1 MS23257 nsv522589 1 7430229 7441851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705976 S 2026 0 1 CAMTA1 nsv518903 1 7435612 7441285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696361 S 2026 0 1 CAMTA1 nsv870872 1 7435612 7498253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546440 S 6533 0 1 CAMTA1 MS17208 nsv526782 1 7469799 7472075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703134 S 2026 0 1 CAMTA1 esv2647714 1 7475559 7475822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309036 S 1 0 1 CAMTA1 NA18507 esv1935214 1 7475977 7476287 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549214 S 1 0 1 CAMTA1 NA18507 nsv527595 1 7479739 7489999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704056 S 2026 0 1 CAMTA1 nsv826364 1 7489022 7490019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421439 S 31 1 0 CAMTA1 NA18997 nsv7991 1 7491072 7494340 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26894 S 31 1 0 Samples from several populations that are part of the HapMap project. CAMTA1 NA18860 esv28432 1 7491802 7494108 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12117 S 451 28 1 CAMTA1 NA06985,NA11931,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820592 1 7491802 7494188 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420846 S 1 0 1 CAMTA1 NA10851 nsv826475 1 7491802 7494188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421440,nssv1438581,nssv1427245,nssv1422357,nssv1423943,nssv1440113,nssv1425484,nssv1430329,nssv1424725,nssv1428015,nssv1431790,nssv1431057,nssv1426370 M 31 0 13 CAMTA1 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18552,NA18564,NA18582,NA18973,NA18997 esv2592830 1 7492204 7494913 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286155 S 1 0 1 CAMTA1 NA18507 nsv819302 1 7492405 7494002 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419290 S 2 0 1 CAMTA1 AK1 esv2190574 1 7492498 7494279 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836092 S 1 0 1 CAMTA1 NA18507 esv3915 1 7492621 7494271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26356 S 1 0 1 Single Asian sample YH CAMTA1 YH esv7233 1 7492661 7494110 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29674 S 1 0 1 CAMTA1 SJK dgv10n67 1 7492810 7493979 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 nsv826808 1 7493150 7493730 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436326 S 31 1 0 CAMTA1 NA18542 dgv15e1 1 7494050 7610646 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1390,essv12439 M 271 0 0 CAMTA1 NA19152 esv23816 1 7500245 7502465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15537 S 451 0 1 CAMTA1 NA18916 nsv512715 1 7502743 7503046 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625339 S 1 1 0 CAMTA1 1 nsv870745 1 7507401 7547442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529775 S 6533 0 1 CAMTA1 MS10123 esv993163 1 7531319 7531545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579404 S 3 0 1 CAMTA1 HuRef esv1611358 1 7531327 7531554 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860626 S 2 0 1 CAMTA1 HuRef nsv520077 1 7560566 7567389 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697212 S 2026 0 1 CAMTA1 nsv871278 1 7608781 7671112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546441,nssv1592092 M 6533 0 2 CAMTA1 IS39233,MS17208 esv1977744 1 7637619 7637973 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674847 S 1 0 1 CAMTA1 NA18507 esv8105 1 7637637 7637872 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30546 S 1 0 1 CAMTA1 SJK nsv871889 1 7638363 7697922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585781 S 6533 0 1 CAMTA1 IS37646 esv28595 1 7685616 7688145 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13845 S 451 1 0 CAMTA1 NA06985 nsv870846 1 7768282 7833686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555730 S 6533 0 1 PER3,UTS2 MS21528 nsv161033 1 7778984 7787527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179611 M 24 PER3 esv991458 1 7812574 7812627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570335 S 3 0 1 PER3 HuRef esv1585189 1 7845636 7845696 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804508 S 2 0 1 "" HuRef esv5046 1 7847521 7848259 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27487 S 1 0 1 Single Asian sample YH "" YH nsv160721 1 7847524 7847971 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179299 M 24 "" esv29691 1 7847539 7848144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10705 S 451 0 4 "" NA12004,NA12749,NA18502,NA18858 nsv821110 1 7847539 7848144 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420957 S 1 0 1 "" NA10851 esv9095 1 7847542 7848172 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31536 S 1 0 1 "" SJK esv259866 1 7895683 7896229 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398355 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19093 nsv871360 1 7895757 8166732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558405 S 6533 1 0 ERRFI1,PARK7,TNFRSF9 MS23257 nsv1521 1 7936826 7970080 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2406 S 9 1 0 PARK7 NA18555 esv2403277 1 7972997 7973356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650492 S 1 0 1 "" NA18507 esv6796 1 8009540 8009603 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29237 S 1 1 0 "" SJK nsv528132 1 8067881 8069744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704677 S 2026 0 1 "" esv25059 1 8105031 8113962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14504 S 451 0 2 "" NA07045,NA19108 esv2421513 1 8105049 8112441 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053091,essv5012227,essv5037691,essv5115860,essv5022989,essv5113994,essv5088579,essv5028046,essv5060745,essv5142796,essv5141409,essv5016176,essv5120988,essv5009796,essv5014120,essv5022164,essv5003208,essv5078502,essv5071617,essv5132727,essv5038470,essv5120024,essv5005423,essv5075870,essv5021464,essv5114664,essv5019834,essv5015810,essv5073414,essv5080397,essv5053733,essv5031289,essv5146224,essv5147348,essv5107816,essv5143136,essv5142988,essv5159857,essv5154659 M 1184 0 39 "" NA06997,NA07045,NA18933,NA19035,NA19107,NA19108,NA19109,NA19127,NA19153,NA19154,NA19204,NA19207,NA19213,NA19215,NA19313,NA19318,NA19321,NA19352,NA19373,NA19374,NA19403,NA19437,NA19471,NA19472,NA19664,NA19701,NA19702,NA19704,NA19915,NA20288,NA20297,NA20343,NA20347,NA20363,NA21295,NA21317,NA21424,NA21580,NA21596 nsv442907 1 8105171 8111872 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv831870 1 8125994 8276744 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442652,nssv1442617,nssv1442630,nssv1442641,nssv1442606,nssv1442595 M 95 0 6 "" esv22301 1 8126671 8133714 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10444 S 451 3 0 "" NA11931,NA12004,NA12239 nsv441679 1 8128717 8131908 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23800 1 8139415 8163405 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15760 S 451 1 0 "" NA12156 nsv1632 1 8160996 8206161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7290 S 9 0 1 "" NA12156 esv1547514 1 8259524 8259524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685454 S 2 1 0 "" HuRef nsv871164 1 8295795 8359389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530412 S 6533 0 1 RERE,SLC45A1 MS10311 nsv1743 1 8300340 8334303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3033 S 9 1 0 SLC45A1 NA18555 nsv512716 1 8304272 8305144 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625340 S 1 1 0 "" 1 esv2601359 1 8304404 8305201 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225689 S 1 1 0 "" NA18507 nsv516827 1 8313475 8346097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684816,nssv685632,nssv693483,nssv671511,nssv656941,nssv679037,nssv657128,nssv654276,nssv693424 M 2026 0 9 RERE,SLC45A1 esv1250756 1 8314094 8314094 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006791 S 2 1 0 SLC45A1 HuRef esv2624373 1 8326992 8327926 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304328 S 1 1 0 "" NA18507 esv1162151 1 8327542 8327542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276612 S 2 1 0 "" HuRef nsv819494 1 8338735 8344018 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419699 S 2 1 0 RERE AK1 esv990980 1 8358166 8358166 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583268 S 3 1 0 RERE HuRef esv273761 1 8369188 8369431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580120,essv2580327,essv2580011 M 7 3 0 Samples from several populations that are part of the HapMap project. RERE NA12878,NA12891,NA12892 esv271602 1 8369196 8369518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558165,essv2565689,essv2575808,essv2540935,essv2521100,essv2526156,essv2542233,essv2536780,essv2522919,essv2543852,essv2570907,essv2556615,essv2531804,essv2521655,essv2550751,essv2525399,essv2535079,essv2553993,essv2544263,essv2552139,essv2520382,essv2547550,essv2558314,essv2577789,essv2559488,essv2565498,essv2576429,essv2564173,essv2554940,essv2561751,essv2546789,essv2552441,essv2551882,essv2532047,essv2544714,essv2562817,essv2523502,essv2541339,essv2538216,essv2542755,essv2540499,essv2524665,essv2565105,essv2534818,essv2561114,essv2539619,essv2549548,essv2519703,essv2560042,essv2522133,essv2566227,essv2531190,essv2532915,essv2567950,essv2528914,essv2567633,essv2541643,essv2570173,essv2563632,essv2553211,essv2535758,essv2572262,essv2559401,essv2551034,essv2556244,essv2528159,essv2533916,essv2578320,essv2573241,essv2555233,essv2533443,essv2555488,essv2567034,essv2530134,essv2573839,essv2527484,essv2555796,essv2534254,essv2522407,essv2531483,essv2573625,essv2543245,essv2577151,essv2571869,essv2527007,essv2538711,essv2526576,essv2524052,essv2530273,essv2572725,essv2571113,essv2545712,essv2574134,essv2536145,essv2538134,essv2548777,essv2533079,essv2525155,essv2563419 M 157 99 0 Samples from several populations that are part of the HapMap project. RERE NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12006,NA12144,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12812,NA12814,NA12828,NA12872,NA12874,NA12892,NA18502,NA18504,NA18505,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18871,NA18907,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19108,NA19114,NA19129,NA19141,NA19143,NA19238,NA19239,NA19240 nsv524946 1 8378299 8394751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700963 S 2026 0 1 RERE esv270262 1 8424556 8424907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519296,essv2517053,essv2518736,essv2518542,essv2516472,essv2514425 M 157 6 0 Samples from several populations that are part of the HapMap project. RERE NA11894,NA11931,NA12045,NA12287,NA12814,NA12874 esv268185 1 8450866 8450951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516985 S 157 1 0 Samples from several populations that are part of the HapMap project. RERE NA11931 esv25533 1 8473045 8474309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11693,esv13828 M 451 0 4 RERE NA18517,NA18858,NA19129,NA19190 nsv159615 1 8500203 8503822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178193 M 24 RERE nsv826919 1 8593977 8596557 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423363 S 31 1 0 RERE NA18968 esv26500 1 8594205 8608321 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13894,esv17365,esv15623,esv10195 M 451 2 28 RERE NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19225,NA19240 nsv827030 1 8597147 8607597 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435647 S 31 0 1 RERE NA18566 esv2407042 1 8628533 8628957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792099 S 1 0 1 RERE NA18507 esv27511 1 8637775 8642826 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17675 S 451 2 0 RERE NA15510,NA18861 nsv827141 1 8638338 8642367 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423374 S 31 1 0 RERE NA18968 esv2384996 1 8651416 8651857 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771378 S 1 0 1 RERE NA18507 nsv871184 1 8661524 8761887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590112 S 6533 0 1 RERE IS38463 nsv871221 1 8661524 8813712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598966 S 6533 0 1 RERE IS41113 esv25426 1 8689030 8697499 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17965 S 451 0 1 RERE NA18508 nsv871694 1 8718138 8989282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558406 S 6533 1 0 CA6,ENO1,ENO1-AS1,RERE,SLC2A7 MS23257 nsv871022 1 8744951 8839104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569056 S 6533 0 1 RERE IS31419 nsv1854 1 8748742 8782277 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7349 S 9 1 0 RERE NA12156 dgv16e1 1 8810828 8839227 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv482,essv9828 M 271 0 0 "" NA18863 nsv871026 1 8843299 8898561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546442 S 6533 0 1 ENO1,ENO1-AS1 MS17208 nsv527110 1 8913728 8914460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703492 S 2026 0 1 "" nsv1965 1 8926325 8930244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3239 S 9 1 0 CA6 NA12878 nsv516097 1 8931993 8934309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671111,nssv692368,nssv669183,nssv660728,nssv671439,nssv666175,nssv660321,nssv671923,nssv660579 M 2026 0 9 CA6 nsv871338 1 8953551 8979356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515922 S 6533 0 1 CA6 SP56313 nsv526389 1 8961609 8972459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702688 S 2026 0 1 "" nsv871609 1 8967992 8990607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500211 S 6533 0 1 SLC2A7 SP50559 nsv462616 1 8981133 9003553 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538732 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A7 HGDP00806 nsv525092 1 8981133 9003553 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701151 S 2026 1 0 SLC2A7 nsv462727 1 9002998 9055643 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538823 S 1557 0 1 SLC2A5,SLC2A7 1780854205_A nsv831981 1 9014304 9170154 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442663 S 95 0 1 GPR157,MIR34A,SLC2A5 esv1504235 1 9036107 9036107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665009 S 2 1 0 SLC2A5 HuRef esv1740239 1 9036142 9036142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265262 S 2 1 0 SLC2A5 HuRef nsv512717 1 9043542 9044383 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625341 S 1 1 0 SLC2A5 1 esv2422210 1 9089163 9197219 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161558 S 181 1 0 GPR157,MIR34A ND01701 nsv871145 1 9093465 9141308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576881 S 6533 0 1 GPR157,MIR34A IS34304 esv1519481 1 9098831 9098831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133256 S 2 1 0 GPR157 HuRef nsv832092 1 9109155 9287189 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442674 S 95 0 1 GPR157,H6PD,MIR34A,SPSB1 nsv871755 1 9168159 9238434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509721 S 6533 0 1 H6PD SP54956 dgv2e55 1 9238434 9327280 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750846,esv2750843,esv2750844 M 771 3 0 H6PD,SPSB1 BEC_287,BEC_670,SPC_192 esv23318 1 9240393 9243813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16429 S 451 0 1 H6PD NA12749 dgv131n71 1 9240988 9329566 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870739,nsv871232,nsv870557,nsv871423 M 6533 7 0 H6PD,SPSB1 IS30539,IS34218,IS35506,IS36458,IS38050,IS38057,IS39046 dgv3n27 1 9240988 9334995 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463172,nsv462950,nsv463950,nsv462839,nsv463061 M 1557 5 0 H6PD,SPSB1 1780854392_A,1780854556_A,1780862066_A,1780862577_A,HGDP00136 nsv520191 1 9243828 9319247 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661584,nssv696393,nssv688630,nssv662674,nssv687341 M 2026 5 0 H6PD,SPSB1 esv2750845 1 9250000 9311805 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980777,essv6985406 M 771 1 0 H6PD,SPSB1 BEC_149 nsv870719 1 9272525 9363627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558407 S 6533 1 0 SPSB1 MS23257 esv2201511 1 9292566 9292989 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737746 S 1 0 1 SPSB1 NA18507 esv1000068 1 9292718 9292718 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571220 S 3 1 0 SPSB1 HuRef dgv132n71 1 9293686 9353810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871319,nsv871027 M 6533 0 2 SPSB1 MS10311,MS17208 nsv871098 1 9293686 9391701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543349 S 6533 0 1 SPSB1 MS16153 nsv464172 1 9300451 9336233 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540129 S 1557 0 1 SPSB1 1780854065_A nsv827253 1 9353942 9354616 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431791 S 31 0 1 "" AK20 esv2616653 1 9361917 9363588 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231075 S 1 0 1 "" NA18507 esv2203424 1 9362487 9363139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643328 S 1 0 1 "" NA18507 esv2443842 1 9393000 9393819 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170213 S 1 1 0 "" NA18507 nsv517755 1 9437433 9462280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674995,nssv653129,nssv661666,nssv658552,nssv693425,nssv670279,nssv692200 M 2026 0 7 "" esv2476310 1 9516165 9522726 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297378 S 1 0 1 SLC25A33 NA18507 esv2577357 1 9517491 9520883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368321 S 1 0 1 "" NA18507 esv28451 1 9518760 9520515 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15031,esv11914 M 451 0 5 "" NA18505,NA18907,NA19147,NA19190,NA19257 nsv2076 1 9519805 9554020 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3078 S 9 1 0 SLC25A33 NA18555 nsv871521 1 9562878 9588951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510639 S 6533 0 1 SLC25A33,TMEM201 SP54988 nsv871610 1 9578382 9930808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558408 S 6533 1 0 C1orf200,CLSTN1,CTNNBIP1,LZIC,NMNAT1,PIK3CD,TMEM201 MS23257 nsv2187 1 9589883 9616337 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3334,nssv9906,nssv10282,nssv4948,nssv3119,nssv6883,nssv1500 M 9 7 0 TMEM201 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508847 1 9594782 9661476 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619767,nssv623772,nssv621081 M 4 3 0 C1orf200,PIK3CD,TMEM201 NA10860,NA15510,NA18994 esv1010171 1 9606595 9608107 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565355 S 3 1 0 "" HuRef nsv832203 1 9649219 9782796 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442685 S 95 0 1 CLSTN1,PIK3CD esv259473 1 9662837 9663252 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393758,essv2394044,essv2394363 M 6 0 0 Samples from several populations that are part of the HapMap project. PIK3CD NA19238,NA19239,NA19240 nsv160151 1 9685183 9688695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178729 M 24 PIK3CD nsv827364 1 9745319 9747784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431975 S 31 0 1 CLSTN1 NA18972 nsv2298 1 9748873 9780074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10302 S 9 0 1 CLSTN1 NA18956 dgv11n67 1 9769142 9779958 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827475,nsv827586,nsv827697 M 31 0 4 CLSTN1 NA18526,NA18564,NA18570,NA18949 nsv498662 1 9769237 9779283 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585382 S 9 0 1 CLSTN1 nsv871146 1 9819588 9873875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530414 S 6533 0 1 CTNNBIP1 MS10311 nsv527217 1 10016044 10179754 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703617 S 2026 1 0 UBE4B nsv522629 1 10048352 10161784 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706027 S 2026 1 0 UBE4B nsv525216 1 10118527 10123161 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701302 S 2026 1 0 UBE4B esv2562286 1 10152982 10154339 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304967 S 1 0 1 UBE4B NA18507 dgv17e1 1 10160657 10505141 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10115,esv397,essv15694 M 271 0 0 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD,UBE4B NA18912,NA19130 nsv512718 1 10170195 10170662 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625342 S 1 1 0 "" 1 esv4531 1 10257291 10257519 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26972 S 1 0 1 Single Asian sample YH KIF1B YH esv2550823 1 10274566 10275850 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364930 S 1 0 1 KIF1B NA18507 nsv2409 1 10288677 10310823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3425 S 9 1 0 KIF1B NA12878 dgv1n17 1 10289074 10310291 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437201,nsv437200 M 60 0 2 KIF1B NA18500,NA18914 nsv436146 1 10291453 10301596 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466361 S 2 0 1 Samples from several populations that are part of the HapMap project. KIF1B NA18505 nsv8102 1 10291557 10301433 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26900,nssv26885,nssv24611 M 31 0 3 Samples from several populations that are part of the HapMap project. KIF1B NA18502,NA18853,NA19132 esv23835 1 10292005 10301472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12065 S 451 0 4 KIF1B NA18502,NA18505,NA18508,NA18861 esv2421759 1 10292133 10300570 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5118117,essv5131012,essv5151358,essv5104647,essv5029372,essv5110636,essv5117819,essv5072375,essv5048097,essv5066898,essv5124066,essv5146221,essv5031808,essv5073299,essv5011913,essv5028433,essv5158917,essv5098414,essv5032695,essv5093833,essv5142692,essv5011379,essv5012723,essv5103254,essv5074473,essv5084373,essv5033256,essv5071040,essv5049783,essv5081479,essv5145827,essv5145720,essv5107159,essv5053735,essv5075248,essv5087410,essv5100113,essv5037021,essv5005447,essv5089301,essv5155081,essv5062929,essv5060455,essv5014103,essv5064063,essv5077233,essv5033654,essv5031784,essv5095610,essv5141223,essv5030658,essv5131639,essv5054475,essv5013970,essv5131248,essv5045696,essv5059809,essv5062374,essv5109789 M 1184 0 59 KIF1B NA18497,NA18499,NA18500,NA18501,NA18505,NA18506,NA18508,NA18510,NA18853,NA18854,NA18861,NA18863,NA18867,NA18868,NA18869,NA18912,NA18913,NA18914,NA18933,NA18935,NA19118,NA19130,NA19132,NA19176,NA19179,NA19180,NA19184,NA19185,NA19186,NA19192,NA19198,NA19207,NA19213,NA19215,NA19235,NA19237,NA19238,NA19248,NA19249,NA19314,NA19359,NA19374,NA19434,NA19444,NA19452,NA19664,NA19703,NA19705,NA19819,NA20294,NA20295,NA20297,NA20322,NA20348,NA21300,NA21418,NA21441,NA21520,NA21613 nsv515546 1 10292899 10296090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660763,nssv690059,nssv690144,nssv671141,nssv656381,nssv680299,nssv676915,nssv686246,nssv691095,nssv663872,nssv654559,nssv695737,nssv657555,nssv682975,nssv658813,nssv679262,nssv658241,nssv656820,nssv666539,nssv687648,nssv680418,nssv667908,nssv667133 M 2026 0 23 KIF1B nsv818666 1 10292899 10296090 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417808,nssv1416820,nssv1417809,nssv1418422 M 112 0 4 KIF1B NA18853,NA18854,NA19192,NA19238 nsv441678 1 10293128 10300570 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF1B nsv513981 1 10293441 10300549 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627018 S 1414 0 1 KIF1B nsv437970 1 10297766 10301003 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467963,nssv471534,nssv467852,nssv468074,nssv468185,nssv467741 M 269 0 6 Samples from several populations that are part of the HapMap project. KIF1B NA18500,NA18502,NA18912,NA18914,NA19130,NA19132 essv3548 1 10372030 10505141 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. APITD1,APITD1-CORT,CORT,DFFA,PEX14,PGD NA18965 nsv8213 1 10373501 10383026 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28055 S 31 1 0 Samples from several populations that are part of the HapMap project. PGD NA19221 esv1010529 1 10398782 10401173 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564483 S 3 0 1 PGD HuRef nsv8324 1 10404184 10407232 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26893,nssv28046,nssv24601,nssv24615,nssv24609,nssv24596,nssv12119,nssv24608,nssv26889,nssv28538,nssv11773,nssv21445,nssv28037,nssv28052,nssv21428,nssv26875,nssv28548,nssv29270,nssv26887,nssv29251 M 31 0 20 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19173 nsv511676 1 10404830 10406384 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626314 S 1 0 1 "" 1 dgv12n67 1 10404929 10406229 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827808,nsv827919 M 31 0 11 "" AK12,AK16,AK20,AK4,NA18526,NA18552,NA18564,NA18951,NA18968,NA18972,NA18997 esv3677 1 10405039 10406535 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26118 S 1 0 1 Single Asian sample YH "" YH esv7749 1 10405061 10406392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30190 S 1 0 1 "" SJK nsv160262 1 10405068 10406366 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178840 M 24 "" esv26404 1 10405137 10406094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14503 S 451 0 7 "" NA07037,NA12004,NA12749,NA15510,NA18517,NA18909,NA19129 esv2421360 1 10466423 10467633 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005178,essv5074992,essv5160849,essv5023863,essv5094667,essv5010570,essv5151853,essv5148686,essv5118967,essv5138311,essv5115009,essv5142946,essv5151994,essv5111430,essv5122639,essv5160550,essv5145841,essv5043282,essv5087529,essv5072629,essv5079670,essv5120264,essv5154504,essv5030172,essv5037011,essv5125662,essv5061676,essv5099736,essv5088559,essv5057594,essv5102680 M 1184 0 31 PEX14 NA07045,NA18497,NA18499,NA18870,NA18917,NA18930,NA19010,NA19041,NA19098,NA19138,NA19178,NA19180,NA19192,NA19194,NA19347,NA19399,NA19713,NA19983,NA20288,NA21295,NA21333,NA21339,NA21356,NA21390,NA21399,NA21401,NA21418,NA21436,NA21634,NA21636,NA21682 nsv2521 1 10476117 10520758 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7460 S 9 0 1 PEX14 NA12156 nsv8435 1 10490771 10494961 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24613 S 31 1 0 Samples from several populations that are part of the HapMap project. PEX14 NA18942 nsv517464 1 10561191 10565784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679135,nssv652091,nssv685750,nssv693755,nssv683372,nssv681545 M 2026 0 6 PEX14 nsv818777 1 10561191 10565784 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417173 S 112 0 1 PEX14 NA18550 esv275132 1 10578911 10580499 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586077 S 1250 0 1 PEX14 dgv4n27 1 10595781 10719453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464505,nsv465061 M 1557 0 2 CASZ1,PEX14 1780862093_A,1780862573_A esv29966 1 10599387 10796739 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84205 S 2 0 1 CASZ1,PEX14 HuRef nsv828030 1 10600149 10717748 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436327 S 31 1 0 CASZ1,PEX14 NA18542 dgv133n71 1 10606685 10679786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870483,nsv871737,nsv871950,nsv870460,nsv871156,nsv870683,nsv871824 M 6533 0 12 CASZ1,PEX14 IS32737,IS33665,IS33797,IS37172,IS37646,IS37985,IS38293,IS40828,IS41634,MS10123,SP54725,SP55021 dgv134n71 1 10606685 10699847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871478,nsv871361,nsv871290 M 6533 0 7 CASZ1,PEX14 IS32888,IS38176,IS38403,IS39233,IS39417,MS16315,SP54988 dgv135n71 1 10606685 10724172 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870923,nsv871191,nsv871070,nsv871469 M 6533 0 4 CASZ1,PEX14 IS33684,MS16153,MS17208,MS18276 nsv464949 1 10613535 10679786 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540805 S 1557 0 1 CASZ1 1780862345_A nsv525693 1 10616712 10763492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701852 S 2026 0 1 CASZ1 nsv870849 1 10616712 10817311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530415 S 6533 0 1 CASZ1 MS10311 nsv828141 1 10618064 10626784 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423940 S 31 1 0 CASZ1 NA18947 nsv828252 1 10620397 10625621 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433409 S 31 1 0 CASZ1 NA18526 nsv828364 1 10620397 10686751 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440798 S 31 1 0 CASZ1 NA18969 nsv436924 1 10627275 10654856 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466805 S 60 0 1 Samples from several populations that are part of the HapMap project. CASZ1 NA10847 nsv871904 1 10627275 10679786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573162 S 6533 0 1 CASZ1 IS33248 nsv832314 1 10627398 10782506 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442696,nssv1442718,nssv1442707 M 95 0 3 CASZ1 nsv438081 1 10628678 10640184 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468407,nssv468296 M 269 0 2 Samples from several populations that are part of the HapMap project. CASZ1 NA10847,NA12146 nsv508858 1 10633211 10735797 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619768 S 4 1 0 CASZ1 NA10860 nsv818888 1 10642232 10673019 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417515 S 112 0 1 CASZ1 NA18968 esv997282 1 10654369 10668236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564310 S 3 0 1 CASZ1 HuRef dgv18e1 1 10665089 10843742 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7352,essv21666,essv22143,essv18597,essv11014,essv5362,essv2783,essv13846,essv18290,essv3996 M 271 0 0 CASZ1 NA10846,NA10857,NA12234,NA12248,NA18563,NA18570,NA18854,NA18970,NA18987,NA19143 dgv19e1 1 10665089 10977734 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7839,esv239 M 271 0 0 C1orf127,CASZ1 NA18558 nsv8546 1 10675514 10679354 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28027,nssv28926 M 31 2 0 Samples from several populations that are part of the HapMap project. CASZ1 NA07029,NA12740 nsv465172 1 10679786 10719453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541028 S 1557 0 1 CASZ1 1780862416_A nsv871905 1 10679786 10724172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570673 S 6533 0 1 CASZ1 IS32322 nsv465283 1 10690489 10738008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541114 S 1557 0 1 CASZ1 NINDS_198 essv11784 1 10726405 10843742 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CASZ1 NA18504 dgv136n71 1 10754909 10824581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871772,nsv870589 M 6533 0 2 CASZ1 MS17208,MS18276 nsv159406 1 10767813 10767813 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177984 M 24 CASZ1 nsv871617 1 10781333 10857819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543351 S 6533 0 1 "" MS16153 nsv871155 1 10781333 10921096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558409 S 6533 1 0 "" MS23257 nsv832425 1 10826432 11045562 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442741,nssv1442729 M 95 0 2 C1orf127,MASP2,SRM,TARDBP esv2418090 1 10835960 10836423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522724 S 1 0 1 "" NA18507 esv27036 1 10874013 10874782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19765 S 451 0 1 "" NA19147 nsv516264 1 10906538 10907149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667169,nssv688415,nssv655703,nssv662101,nssv683701,nssv680546,nssv693249,nssv676652 M 2026 0 8 "" esv2576089 1 10915938 10916329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340923 S 1 0 1 "" NA18507 nsv508869 1 10938844 10991103 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621082 S 4 1 0 C1orf127 NA15510 esv1628805 1 10965819 10966556 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981893 S 2 0 1 "" HuRef esv2592186 1 10982291 10985877 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335168 S 1 0 1 "" NA18507 esv23739 1 10982754 10984494 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14228 S 451 0 1 "" NA19190 esv25881 1 11020149 11028638 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13377,esv21307 M 451 2 1 MASP2 NA06985,NA12044,NA19257 dgv137n71 1 11025995 11052435 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870879,nsv870763 M 6533 0 2 EXOSC10,MASP2,SRM SP54725,SP54956 nsv871818 1 11034216 11047637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505919 S 6533 0 1 SRM SP54043 nsv870986 1 11037527 11052435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508946 S 6533 0 1 EXOSC10,SRM SP54591 esv267860 1 11134836 11135161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494076,essv2495689,essv2505624 M 157 3 0 Samples from several populations that are part of the HapMap project. MTOR NA18871,NA18916,NA19005 nsv516050 1 11295225 11320952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700989,nssv665889,nssv683456,nssv701963 M 2026 0 4 "" nsv832536 1 11311364 11484928 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442752 S 95 0 1 PTCHD2 nsv465394 1 11416419 11443240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541193 S 1557 0 1 "" 1780854097_A nsv528438 1 11419581 11424018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705033 S 2026 0 1 "" dgv138n71 1 11454505 11536855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871576,nsv871842,nsv870530 M 6533 0 3 PTCHD2 IS33684,MS10311,MS16153 nsv2632 1 11459664 11490439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv298 S 9 1 0 PTCHD2 NA19240 nsv871932 1 11480557 11549445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558410 S 6533 1 0 PTCHD2 MS23257 nsv832647 1 11484934 11592183 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442763 S 95 0 1 PTCHD2 nsv465505 1 11485077 11523706 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541299 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00857 nsv465727 1 11485077 11549445 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541477 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00787 nsv470692 1 11497847 11545566 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547697 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD2 HGDP00599 nsv521736 1 11500418 11517918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694500 S 2026 0 1 PTCHD2 esv2628262 1 11504990 11505756 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205183 S 1 1 0 PTCHD2 NA18507 esv26916 1 11505139 11505609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13120 S 451 0 1 PTCHD2 NA07045 esv273466 1 11522398 11522530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581353 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv520251 1 11536855 11549445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697308 S 2026 0 1 "" esv2570682 1 11605279 11606978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218562 S 1 0 1 "" NA18507 esv2017403 1 11605301 11605956 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788047 S 1 0 1 "" NA18507 esv3208 1 11605423 11605899 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25649 S 1 0 1 Single Asian sample YH "" YH esv7758 1 11605480 11605771 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30199 S 1 0 1 "" SJK nsv832758 1 11619670 11759731 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442774 S 95 0 1 AGTRAP,C1orf187,FBXO2,FBXO44,FBXO6,MAD2L2 dgv139n71 1 11629378 11651262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871769,nsv871114,nsv871392,nsv870711 M 6533 0 4 FBXO2,FBXO44,FBXO6 SP54043,SP54725,SP54956,SP54988 nsv515826 1 11633148 11636150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666865,nssv664907,nssv693798,nssv682473,nssv685412,nssv681520,nssv679392,nssv673329,nssv660113,nssv683681,nssv674188,nssv682277,nssv655395 M 2026 0 13 FBXO2 nsv871014 1 11633148 11815237 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558411 S 6533 1 0 AGTRAP,C1orf187,CLCN6,FBXO2,FBXO44,FBXO6,MAD2L2,MTHFR MS23257 nsv871850 1 11635753 11647525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510492,nssv1511310 M 6533 0 2 FBXO2,FBXO44,FBXO6 SP54967,SP55021 nsv521468 1 11636150 11639887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694449 S 2026 0 1 FBXO2,FBXO44 dgv140n71 1 11686264 11778965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870873,nsv870810 M 6533 0 2 AGTRAP,C1orf187,MTHFR IS38274,MS17208 nsv508880 1 11704027 11753907 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619769 S 4 1 0 AGTRAP NA10860 nsv871919 1 11706071 11826663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530417 S 6533 0 1 AGTRAP,CLCN6,MTHFR,NPPA-AS1 MS10311 nsv870510 1 11720346 11732784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506951 S 6533 1 0 AGTRAP SP54442 nsv871561 1 11725021 11732784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506982 S 6533 1 0 AGTRAP SP54448 dgv141n71 1 11737218 11778965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871826,nsv870631 M 6533 0 2 MTHFR MS16153,SP54956 nsv518652 1 11780298 11785365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696101 S 2026 0 1 MTHFR esv2280942 1 11812152 11812473 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641147 S 1 0 1 CLCN6 NA18507 nsv527521 1 11823412 11832101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703975 S 2026 0 1 CLCN6,NPPA,NPPA-AS1 nsv517385 1 11851417 11851482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669294,nssv681416,nssv656721,nssv673526,nssv653897,nssv652751,nssv690321 M 2026 0 7 "" dgv142n71 1 11851482 11923257 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871350,nsv871776,nsv870866 M 6533 0 3 KIAA2013,PLOD1 IS32322,IS38176,MS18276 nsv870926 1 11859991 11954617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530418 S 6533 0 1 KIAA2013,PLOD1 MS10311 nsv870723 1 11881803 11917763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511311 S 6533 0 1 KIAA2013,PLOD1 SP55021 nsv828475 1 11912209 11915865 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423944 S 31 0 1 "" NA18582 esv22435 1 11912455 11916071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16673 S 451 0 1 "" NA12414 esv27905 1 11953358 11954096 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17941 S 451 1 0 PLOD1 NA12156 nsv870502 1 11966751 12035307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585783 S 6533 0 1 MFN2,MIIP IS37646 nsv470693 1 11973221 12038278 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547698 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MFN2,MIIP HGDP00556 nsv871917 1 11976617 12004921 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519546 S 6533 0 1 MFN2,MIIP SP81085 esv268997 1 11988806 11989196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508678,essv2509958,essv2502427 M 157 3 0 Samples from several populations that are part of the HapMap project. MFN2 NA18592,NA18593,NA18948 nsv469830 1 12022313 12182502 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649851 M 265 0 0 Samples from several populations that are part of the HapMap project. MIR4632,TNFRSF1B,TNFRSF8 esv6101 1 12045141 12045477 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28542 S 1 0 1 "" SJK nsv466060 1 12052638 12064048 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541698 S 1557 0 1 TNFRSF8 1780862021_A nsv525898 1 12064048 12091110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702102 S 2026 0 1 TNFRSF8 esv1290308 1 12072780 12072878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317882 S 2 0 1 TNFRSF8 HuRef nsv508891 1 12080564 12217689 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619770 S 4 1 0 MIR4632,TNFRSF1B,TNFRSF8,VPS13D NA10860 nsv820293 1 12126165 12126349 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419048 S 2 0 1 TNFRSF8 AK1 nsv471622 1 12137851 12354230 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550319,nssv550325,nssv550330,nssv550326,nssv550318,nssv550343,nssv550324,nssv550321,nssv550322,nssv550327,nssv550323,nssv550336,nssv550338,nssv550328,nssv550332,nssv550341,nssv550337,nssv550342,nssv550339,nssv550333,nssv550335,nssv550334,nssv550340,nssv550329,nssv550331,nssv550320 M 48 1 25 MIR4632,TNFRSF1B,VPS13D NA10492,NA10494,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15730,NA15732,NA15733,NA16688,NA17014,NA17015,NA17017,NA17020,NA17051,NA17052,NA17059,P86GA dgv143n71 1 12146826 12171607 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871542,nsv871802 M 6533 2 0 TNFRSF1B SP54381,SP54650 nsv527024 1 12146826 12189852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703399 S 2026 0 1 MIR4632,TNFRSF1B nsv870819 1 12156341 12189852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506952,nssv1506983 M 6533 2 0 MIR4632,TNFRSF1B SP54442,SP54448 nsv871005 1 12165045 12168762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500665 S 6533 1 0 TNFRSF1B SP50179 dgv144n71 1 12165045 12174072 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871623,nsv871185,nsv871782,nsv871267 M 6533 0 5 TNFRSF1B SP50159,SP50908,SP54782,SP56874,SP80957 nsv871537 1 12165380 12168762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512369 S 6533 0 1 TNFRSF1B SP55465 nsv871714 1 12169715 12186810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509725 S 6533 0 1 MIR4632,TNFRSF1B SP54956 esv275384 1 12276894 12279663 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585374 S 1250 0 1 VPS13D nsv517848 1 12296335 12564830 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695253 S 2026 1 0 DHRS3,SNORA59A,SNORA59B,VPS13D nsv2743 1 12315193 12360087 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7522 S 9 0 1 VPS13D NA12156 nsv2854 1 12393279 12438696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6975 S 9 0 1 VPS13D NA12156 nsv528439 1 12425014 12429547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705034 S 2026 0 1 VPS13D nsv817617 1 12431530 12456055 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417810 S 112 0 1 VPS13D NA18853 essv17144 1 12521755 12753683 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADACL3,AADACL4,C1orf158,DHRS3 NA19171 dgv20e1 1 12521755 13749642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17525,essv1738,essv4439,essv21792,essv3141,essv19269,esv631,essv15250,essv4720,essv24139 M 271 0 0 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA10838,NA10847,NA12239,NA12762,NA18552,NA18622,NA18969,NA18997,NA19094 nsv521737 1 12522009 12607424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694501 S 2026 0 1 DHRS3 nsv871052 1 12525566 12586361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546447 S 6533 0 1 DHRS3 MS17208 nsv466172 1 12547688 12592983 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541787 S 1557 0 1 DHRS3 NINDS_71 nsv466283 1 12547688 12607424 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541870 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DHRS3 HGDP00259 dgv145n71 1 12555342 12632141 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870676,nsv870568,nsv871922 M 6533 3 0 AADACL4,DHRS3 SP52559,SP53518,SP57873 nsv870867 1 12564830 12612279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523779 S 6533 1 0 DHRS3 SP54191 dgv21e1 1 12596978 13052721 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2582,essv13601,essv22216 M 271 0 0 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12044,NA18990,NA19127 nsv428410 1 12596978 13667714 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454165,nssv454221,nssv454176,nssv454154,nssv454243,nssv453130,nssv454232 M 62 6 1 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 HGDP00450,HGDP00462,HGDP00463,HGDP00473,NA18916,NA19096,NA19189 nsv871219 1 12615712 12697586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520366 S 6533 1 0 AADACL4 SP50830 nsv515525 1 12641798 12645771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691346,nssv687835,nssv663825,nssv655876 M 2026 0 4 AADACL4 nsv8657 1 12665734 12670547 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12449,nssv28045 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19173 esv1936135 1 12665880 12669324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851711 S 1 0 1 "" NA18507 esv259758 1 12669189 12674742 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394724,essv2396569,essv2399336,essv2395741 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18507,NA18522,NA18853 nsv466394 1 12697586 12836483 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541946 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 nsv871119 1 12702205 12769266 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520367 S 6533 1 0 AADACL3,C1orf158,PRAMEF12 SP50830 essv3598 1 12710993 12846549 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 NA18969 dgv22e1 1 12710993 13749642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21921,essv21630,essv22720,essv12911,essv18416,essv22442,essv1381,essv8779,essv6526,essv6322,essv15030,essv2742,essv23457,essv24831,essv6145,essv22789,essv2050,essv10475,essv11698,essv12773,essv18517,essv21902,essv17868,essv4342,essv9820,essv18896,essv17159,essv22676,essv20489,essv16214,essv22849,essv22686,essv938,essv2428,essv18563,essv19111,essv2697,essv23267,essv4016 M 271 0 0 AADACL3,C1orf158,HNRNPCL1,LOC440563,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07000,NA07345,NA07348,NA10838,NA10851,NA10854,NA10857,NA12004,NA12044,NA12057,NA12239,NA12249,NA12717,NA12752,NA12753,NA12761,NA12763,NA12874,NA18515,NA18532,NA18609,NA18611,NA18622,NA18863,NA18949,NA18951,NA18965,NA18967,NA18970,NA19007,NA19092,NA19094,NA19120,NA19129,NA19154,NA19161,NA19171 dgv146n71 1 12717537 12845198 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871589,nsv871711,nsv871523 M 6533 3 0 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 IS30213,IS30319,IS33553 nsv832869 1 12730060 12941777 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442796,nssv1442785 M 95 1 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv871047 1 12733155 12765587 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540573 S 6533 1 0 C1orf158,PRAMEF12 MS14919 dgv23e1 1 12741650 12846549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3668,essv8035,essv19818 M 271 0 0 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 NA10847,NA18991,NA19103 nsv470695 1 12743457 12836482 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547700,nssv547703,nssv547699,nssv547702 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00694,HGDP00702,HGDP00988,HGDP01366 nsv528703 1 12743457 12836483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705350 S 2026 0 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 esv993047 1 12744887 12745098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566471 S 3 0 1 "" HuRef dgv24e1 1 12745698 13052721 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17827,essv3731,essv5244,essv14768,essv11557,essv13702,essv14054,essv2857 M 271 0 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA10831,NA18624,NA18861,NA18953,NA18961,NA19119,NA19159,NA19173 dgv147n71 1 12746810 13614119 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871295,nsv870983,nsv871441 M 6533 3 0 HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 IS31563,IS39243,MS17114 dgv5n27 1 12756840 12836483 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466505,nsv466727 M 1557 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A,HGDP00007 dgv148n71 1 12758455 12793914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870781,nsv870894 M 6533 0 7 PRAMEF1,PRAMEF12 IS30035,IS30165,IS37605,IS40103,MS12551,MS17580,SP58031 nsv871936 1 12758455 12810136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523691 S 6533 1 0 PRAMEF1,PRAMEF11,PRAMEF12 SP54139 dgv6n27 1 12758455 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466949,nsv466616,nsv466838 M 1557 0 3 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1780862077_A,HGDP00952,HGDP01366 dgv149n71 1 12758455 12962685 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871465,nsv871665,nsv870729,nsv871206,nsv871534,nsv870895 M 6533 6 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 IS37226,IS41045,IS41786,MS12466,MS15048,MS17056 nsv517190 1 12758455 13648417 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685626,nssv655601,nssv675460,nssv655298,nssv677999,nssv688922,nssv664467,nssv689950,nssv670301,nssv676168,nssv685508,nssv668984,nssv674582,nssv662916,nssv651901,nssv670769,nssv662340,nssv674765,nssv659765,nssv654351,nssv662505,nssv669367,nssv658961,nssv659462,nssv660425,nssv682789,nssv656069,nssv664297,nssv680385,nssv690595,nssv652682,nssv683316,nssv678527,nssv669316,nssv688196,nssv658218,nssv684041,nssv681069,nssv659030,nssv675328,nssv687198,nssv671841,nssv680570,nssv652055,nssv675204,nssv690145,nssv692088,nssv666273,nssv660265,nssv678613,nssv664702,nssv702090,nssv705370,nssv691789,nssv692526,nssv670277,nssv680870,nssv676529,nssv660049,nssv663203,nssv688182,nssv665485,nssv678933,nssv681241,nssv688036,nssv662290,nssv659477,nssv680419,nssv654248,nssv677586,nssv668625,nssv653971,nssv676136,nssv672363,nssv652446,nssv676530,nssv688711,nssv661007,nssv660725,nssv658040,nssv663875,nssv655162,nssv683850,nssv681352,nssv687685,nssv672026,nssv674814,nssv684928,nssv680445,nssv687277,nssv658370 M 2026 21 70 HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv821559 1 12762564 12815652 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421068 S 1 1 0 PRAMEF1,PRAMEF11 NA10851 dgv13n67 1 12762564 12832142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828697,nsv828586 M 31 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 AK20,NA18969 nsv471539 1 12762846 12787958 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547949,nssv547950,nssv547951 M 3 PRAMEF1 esv28644 1 12763195 12975525 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15812,esv12552,esv21420,esv16950,esv13103,esv19152,esv20242,esv18407,esv15024,esv11323,esv13474,esv11373,esv11679,esv18833,esv16532 M 451 36 11 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv990214 1 12764394 12873662 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586626 S 3 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 HuRef esv2421662 1 12764515 12894420 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129922,essv5073546,essv5128528,essv5003555,essv5022261,essv5134010,essv5138370,essv5051593,essv5012238,essv5053532,essv5117560,essv5131081,essv5102370,essv5139478,essv5116203,essv5114531,essv5102257,essv5039373,essv5159266,essv5066353,essv5018867,essv5109420,essv5132926,essv5084483,essv5067055,essv5027197,essv5009774,essv5106036,essv5122638,essv5102044,essv5133462,essv5038349,essv5143438,essv5017667,essv5009132,essv5072990,essv5104297,essv5030453,essv5121017,essv5053293,essv5057726,essv5089601,essv5041350,essv5115549,essv5159736,essv5140930,essv5040953,essv5038935,essv5065514,essv5140420,essv5098485,essv5034347,essv5077663,essv5024400,essv5061766,essv5023516,essv5109345,essv5115604,essv5098165,essv5013828,essv5025654,essv5122668,essv5082781,essv5074962,essv5029580,essv5089177,essv5006338,essv5116223,essv5064090,essv5018478,essv5109453,essv5068309,essv5048343,essv5050218,essv5098033,essv5049008,essv5061594,essv5107947,essv5040928,essv5120396,essv5150257,essv5088719,essv5024352,essv5124804,essv5111327,essv5144838,essv5018496,essv5059824,essv5097924,essv5116865 M 1184 20 70 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA10838,NA10847,NA10853,NA11891,NA11918,NA12044,NA12344,NA12375,NA12383,NA12546,NA12718,NA12753,NA12763,NA12874,NA17962,NA17965,NA17974,NA17996,NA18109,NA18135,NA18144,NA18161,NA18555,NA18559,NA18593,NA18611,NA18614,NA18617,NA18622,NA18624,NA18702,NA18863,NA18923,NA18924,NA18925,NA18951,NA18955,NA18963,NA18965,NA18969,NA18981,NA18990,NA18991,NA19066,NA19083,NA19103,NA19236,NA19313,NA19334,NA19390,NA19436,NA19468,NA19681,NA19683,NA19720,NA19721,NA19747,NA19748,NA19770,NA19789,NA19908,NA19914,NA19915,NA19919,NA20337,NA20542,NA20810,NA20818,NA20828,NA20887,NA21088,NA21102,NA21111,NA21119,NA21144,NA21316,NA21317,NA21318,NA21364,NA21367,NA21381,NA21383,NA21414,NA21512,NA21519,NA21596,NA21635,NA21636,NA21740,NA21784 dgv150n71 1 12765587 12793914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871208,nsv871761,nsv871960 M 6533 0 10 PRAMEF1 IS36955,IS37030,IS40319,MS26123,SP50713,SP51279,SP53803,SP53994,SP55851,SP81557 nsv871497 1 12765587 12810136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524224,nssv1563722,nssv1563190 M 6533 0 3 PRAMEF1,PRAMEF11 IS30054,MS25891,SP54921 nsv442270 1 12768450 12805683 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF1 nsv8768 1 12768742 13390175 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28033,nssv28927,nssv12763,nssv26890,nssv13763,nssv13429,nssv12429,nssv11777,nssv11770,nssv12765,nssv28032,nssv28560,nssv11763,nssv28539,nssv14093,nssv14083,nssv26901,nssv11769,nssv28546,nssv29259,nssv29274,nssv28944,nssv29262,nssv28043,nssv12113,nssv12754,nssv28933,nssv29268,nssv12093,nssv28945,nssv14099,nssv11771,nssv11774,nssv28056,nssv28543,nssv28938,nssv13769,nssv13099,nssv15113,nssv12099,nssv28047,nssv29264,nssv12108,nssv11780,nssv28554,nssv26891,nssv14429,nssv29258,nssv28941,nssv28040,nssv13423,nssv28923,nssv12109,nssv11772,nssv12773,nssv28553,nssv28559,nssv29275,nssv12438,nssv12435,nssv12433,nssv13098,nssv28929,nssv21451,nssv28557,nssv12779,nssv28039,nssv29256,nssv26880,nssv12437,nssv12101,nssv26898,nssv12426,nssv26895,nssv28934,nssv13428,nssv12424,nssv26878,nssv26883,nssv29250,nssv28937,nssv28041,nssv13109,nssv11776,nssv28544,nssv29269,nssv28931,nssv11766,nssv28550,nssv13744,nssv28051,nssv12112,nssv28549,nssv11791,nssv13433,nssv28556,nssv28948,nssv28042,nssv29266,nssv21427,nssv11778,nssv28936,nssv12450,nssv12443,nssv28555,nssv24616,nssv12120,nssv28551,nssv12121,nssv29257,nssv26899,nssv28947,nssv12105,nssv28541,nssv28036,nssv28035,nssv11782,nssv28920,nssv12096,nssv29278,nssv28547,nssv13084,nssv14074,nssv11775,nssv12439,nssv11762,nssv24599,nssv29265,nssv29267,nssv28531,nssv12767,nssv28545,nssv12092,nssv28928,nssv28943,nssv29249,nssv13103,nssv28935,nssv24598,nssv13093,nssv28919,nssv28049,nssv13753,nssv12107,nssv12094,nssv28053,nssv29277,nssv28939,nssv14423,nssv11779,nssv13439,nssv11781,nssv12111,nssv12769,nssv29271,nssv11764,nssv11783,nssv12422,nssv24622,nssv13414,nssv29263,nssv11790,nssv12768,nssv29253,nssv14753,nssv12752,nssv26881,nssv26904,nssv26897,nssv28540,nssv12103,nssv28932,nssv12780,nssv12441,nssv28050,nssv29261 M 31 30 19 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC440563,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv14n67 1 12769321 12842627 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829030,nsv828808 M 31 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 AK2,NA18997 esv32750 1 12769531 13065155 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101537,essv97562,essv101177,essv96818,essv100986,essv95060,essv98305,essv94766,essv101326,essv94423,essv96954,essv97952,essv95661,essv95436,essv93105,essv95313,essv97426,essv95868,essv94614,essv99068,essv92841,essv92784,essv96187,essv96690,essv97209,essv95999,essv93282,essv99649,essv92594,essv96441,essv99314,essv97675,essv100225,essv100556,essv100377,essv98419,essv96257 M 51 37 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 21603,21616,21618,21659,21693,21721,21772,21791,21805,21808,21817,21837,21841,21847,21863,21872,21879,21911,21932,21938,21939,21944,22007,22011,22075,22127,22170,22217,22233,22261,22275,22278,22286,22298,22300,22352,22371 dgv151n71 1 12769585 12848958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870685,nsv871477,nsv871670,nsv871746,nsv871479,nsv871235 M 6533 0 8 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 IS40757,MS19289,MS20987,MS21737,SP51082,SP51218,SP55077,SP55699 dgv152n71 1 12771679 12810136 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871196,nsv871302,nsv871207 M 6533 58 74 PRAMEF1,PRAMEF11 IS30539,IS30653,IS32523,IS32714,IS33460,IS33508,IS33651,IS33691,IS33868,IS33890,IS34051,IS34381,IS35704,IS35824,IS35846,IS36887,IS37064,IS37293,IS38050,IS38098,IS38146,IS38304,IS38394,IS38416,IS38479,IS38617,IS38634,IS38669,IS39625,IS39931,IS40005,IS40029,IS40237,IS40239,IS40329,IS40520,IS40556,IS40769,IS40843,IS41051,IS41340,IS41920,MS10638,MS10682,MS10685,MS10867,MS11084,MS11886,MS12018,MS12055,MS12244,MS12624,MS12662,MS12722,MS12785,MS13045,MS13253,MS13712,MS14872,MS14978,MS15060,MS15090,MS15502,MS15528,MS15601,MS15715,MS15737,MS16192,MS16467,MS16801,MS17255,MS17508,MS18149,MS18465,MS19177,MS19358,MS19503,MS19533,MS19886,MS20785,MS21465,MS21677,MS22454,MS22854,MS23210,MS23541,MS23770,MS23958,MS24357,MS24405,MS25471,MS25756,MS25842,MS25902,SP50032,SP50580,SP50592,SP50612,SP50791,SP51062,SP51104,SP51221,SP51380,SP51389,SP51398,SP52409,SP52553,SP52872,SP52933,SP53023,SP53449,SP53625,SP54405,SP54937,SP55842,SP56079,SP56350,SP56757,SP56927,SP57401,SP58141,SP58168,SP58404,SP80937,SP81019,SP81127,SP81243,SP81260,SP81275,SP81347,SP81363,SP81387 dgv153n71 1 12771679 12814937 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871281,nsv870905,nsv871280,nsv870524 M 6533 5 0 PRAMEF1,PRAMEF11 IS38152,SP51108,SP54684,SP55056,SP57610 dgv154n71 1 12771679 12821018 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870778,nsv871870 M 6533 7 0 PRAMEF1,PRAMEF11 IS32361,MS19454,MS19955,MS22104,MS24732,MS24873,SP54958 dgv155n71 1 12771679 12845198 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871414,nsv870823,nsv871734,nsv870924,nsv870782,nsv871622,nsv870703 M 6533 46 69 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 IS30467,IS30814,IS31098,IS31346,IS33304,IS33705,IS34374,IS34543,IS35018,IS35088,IS35299,IS35312,IS35342,IS35378,IS35802,IS35910,IS35982,IS36049,IS36752,IS37044,IS37753,IS38054,IS38055,IS38060,IS38170,IS38210,IS38267,IS38336,IS38380,IS38430,IS38589,IS40188,IS40326,IS40333,IS40373,IS40557,IS40838,IS40940,IS41894,MS10166,MS10386,MS11078,MS11165,MS11558,MS11980,MS12045,MS12092,MS12196,MS12331,MS12938,MS13561,MS13693,MS13694,MS14848,MS14943,MS14971,MS15103,MS15175,MS15383,MS15509,MS15682,MS15804,MS16559,MS16709,MS17380,MS18175,MS19365,MS19420,MS19858,MS20640,MS20725,MS20891,MS21124,MS21130,MS22678,MS23796,MS23811,MS23868,MS24260,MS24672,MS24769,SP50076,SP50653,SP51411,SP52376,SP52393,SP52493,SP52625,SP52634,SP53242,SP53643,SP54026,SP54442,SP54489,SP54626,SP54636,SP54665,SP54753,SP54803,SP54885,SP54952,SP55423,SP55937,SP56126,SP56173,SP56395,SP56731,SP56788,SP56845,SP56870,SP56899,SP56938,SP81146,SP81149,SP81501 dgv156n71 1 12771679 12845198 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871827,nsv871190,nsv871638,nsv870956,nsv870927 M 6533 8 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 IS38409,IS40799,MS14336,MS16128,MS20784,MS24935,SP52318,SP56766 dgv157n71 1 12771679 12861980 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871283,nsv871890 M 6533 6 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 IS34108,IS40145,IS40819,IS41243,MS17788,MS21315,MS22231,MS23670 dgv158n71 1 12771679 12886477 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871442,nsv870728 M 6533 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 MS15525,SP56084 nsv871956 1 12773129 12868842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500652 S 6533 0 1 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 SP50156 dgv159n71 1 12775335 12937470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870860,nsv870786,nsv871715,nsv871624,nsv871390 M 6533 0 5 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 IS38184,MS12630,MS25675,SP53803,SP80982 nsv870617 1 12775459 12793914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507138 S 6533 0 1 PRAMEF1 SP54478 dgv15n67 1 12776279 12820751 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828919,nsv829141 M 31 0 2 PRAMEF1,PRAMEF11 AK6,NA18951 dgv160n71 1 12777429 12795459 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871091,nsv871358 M 6533 4 0 PRAMEF1 IS35100,MS18195,MS23577,MS25747 nsv870688 1 12777429 12800942 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521101,nssv1585373,nssv1502080,nssv1527114,nssv1505111 M 6533 2 3 PRAMEF1 IS37428,SP51031,SP52193,SP53060,SP58166 dgv25e1 1 12778733 12846549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6560,essv2359,essv1080,essv973,essv9557,essv5619,essv1569 M 271 0 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA18593,NA18624,NA18861,NA18981,NA18990,NA18995,NA18997 nsv438192 1 12783336 12790824 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468518,nssv468629 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19101,NA19103 dgv7n27 1 12783336 12802943 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467505,nsv467283,nsv467394,nsv467171 M 1557 0 4 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 nsv470696 1 12783336 12836482 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547708,nssv547705,nssv547707,nssv547706,nssv547704 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HNRNPCL1,LOC649330,PRAMEF11 HGDP00072,HGDP00560,HGDP00572,HGDP00714,HGDP01317 dgv8n27 1 12783336 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460339,nsv456440,nsv460039,nsv460006,nsv455885,nsv459662,nsv468505,nsv460317,nsv458996,nsv459440,nsv460195,nsv456551,nsv458773,nsv456218,nsv460150,nsv467616,nsv460328,nsv460173,nsv458329,nsv460250,nsv456107,nsv460084,nsv460028,nsv459329,nsv459107,nsv460073,nsv460206,nsv459218,nsv460217,nsv460128,nsv460261,nsv460117,nsv460228,nsv456329,nsv469171,nsv468616,nsv460095,nsv456996,nsv460139,nsv457662,nsv460295,nsv467727,nsv460306,nsv458440,nsv460184,nsv460017,nsv468838,nsv459551,nsv457440,nsv456885,nsv455774,nsv458551,nsv457996,nsv460284,nsv455996,nsv457773,nsv457218,nsv460050,nsv458107,nsv460239,nsv460161,nsv457885,nsv457551,nsv460062,nsv468727,nsv456774,nsv458884,nsv469393,nsv458662,nsv456662,nsv457329 M 1557 0 71 HNRNPCL1,LOC649330,PRAMEF11 1780854095_A,1780854216_A,1780854341_A,1780854357_A,1780854384_A,1780862015_A,1780862229_A,1780862250_A,1780862263_A,1780862346_A,1780862390_A,1780862574_A,1782681236_A,1782681287_A,1787431167_A,1798860277_A,HGDP00106,HGDP00169,HGDP00251,HGDP00267,HGDP00279,HGDP00285,HGDP00351,HGDP00364,HGDP00423,HGDP00694,HGDP00732,HGDP00748,HGDP00751,HGDP00780,HGDP00781,HGDP00791,HGDP00813,HGDP00856,HGDP00869,HGDP00896,HGDP00945,HGDP00950,HGDP00964,HGDP01003,HGDP01010,HGDP01191,HGDP01296,HGDP01306,HGDP01321,HGDP01330,HGDP01338,HGDP01352,HGDP01360,HGDP01361,HGDP01363,HGDP01368,HGDP01369,HGDP01372,HGDP01375,HGDP01400,NINDS_109,NINDS_117,NINDS_134,NINDS_182,NINDS_198,NINDS_219,NINDS_240,NINDS_253,NINDS_258,NINDS_266,NINDS_27,NINDS_50,NINDS_70,NINDS_83,NINDS_90 dgv9n27 1 12783336 12836483 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459939,nsv467949,nsv459995,nsv468171,nsv455663,nsv469060,nsv459973,nsv459951,nsv458218,nsv457107,nsv460272,nsv459962,nsv459773,nsv468282,nsv459884,nsv468949,nsv459984,nsv468060,nsv460106,nsv468394,nsv469282,nsv467838 M 1557 22 0 HNRNPCL1,LOC649330,PRAMEF11 1780846321_A,1780854128_A,1780854260_A,1780854261_A,1780854362_A,1780862085_A,1780862294_A,1780862487_A,1782681216_A,1798860565_A,HGDP00021,HGDP00072,HGDP00262,HGDP00560,HGDP00572,HGDP00714,HGDP01033,HGDP01103,HGDP01251,HGDP01317,HGDP01399,NINDS_208 nsv817728 1 12783336 12836483 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417408,nssv1418336,nssv1418245,nssv1418338,nssv1418244,nssv1417095 M 112 4 2 HNRNPCL1,LOC649330,PRAMEF11 NA10847,NA12239,NA18529,NA18951,NA19092,NA19094 nsv870489 1 12783436 12810136 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541668,nssv1504262,nssv1529956,nssv1521898 M 6533 3 1 PRAMEF11 MS10127,MS15427,SP52390,SP52627 dgv1n64 1 12788507 12836483 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817839,nsv818045,nsv817950 M 112 0 6 HNRNPCL1,LOC649330,PRAMEF11 NA10857,NA12044,NA12865,NA12874,NA18593,NA18965 nsv829252 1 12789721 12790323 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440800 S 31 0 1 "" NA18969 nsv871633 1 12790824 12836483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548483 S 6533 1 0 HNRNPCL1,LOC649330,PRAMEF11 MS17869 dgv161n71 1 12790824 12848958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870484,nsv871891,nsv871549,nsv871783,nsv870580,nsv871362,nsv870941,nsv871543 M 6533 0 48 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 IS30035,IS30134,IS34111,IS34393,IS34970,IS35053,IS35439,IS37030,IS37993,IS38064,IS38093,IS38108,IS38179,IS39832,IS40205,IS40292,IS40812,IS40854,IS41672,MS11243,MS12727,MS13957,MS14354,MS14786,MS15545,MS15826,MS17580,MS17677,MS17751,MS19917,MS21532,MS21937,MS23356,MS23401,MS23495,MS23626,MS23865,MS24223,MS26123,SP50137,SP50870,SP52003,SP53857,SP54478,SP55663,SP55851,SP56949,SP57322 nsv2965 1 12793128 13108493 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5045,nssv10340,nssv3620,nssv9308 M 9 0 4 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878,NA18517,NA18956,NA19129 nsv829363 1 12793527 12795558 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440801 S 31 0 1 "" NA18969 esv1063166 1 12798812 12798812 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300681 S 2 1 0 "" HuRef nsv871161 1 12800942 12845198 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526795,nssv1548842,nssv1581800,nssv1523252,nssv1563335,nssv1584270,nssv1533477,nssv1528077,nssv1590647,nssv1556866,nssv1595330,nssv1526652,nssv1564575,nssv1527190,nssv1531372,nssv1591939,nssv1586684,nssv1547707,nssv1584300,nssv1523374,nssv1564495,nssv1533687,nssv1555798,nssv1582681 M 6533 1 23 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 IS30224,IS30243,IS35728,IS36086,IS36939,IS36963,IS37946,IS38544,IS39102,IS40227,MS10413,MS11199,MS11273,MS17522,MS17879,MS21626,MS22245,MS25966,SP53838,SP53998,SP57700,SP57831,SP58236,SP81120 nsv7172 1 12802281 13249729 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9625,nssv5133,nssv5286,nssv6080,nssv3714,nssv10379,nssv7060,nssv7150,nssv9329,nssv10403,nssv11101,nssv11168,nssv5213,nssv382,nssv2496,nssv9624 M 9 0 0 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv460350 1 12802740 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536942 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HNRNPCL1,LOC649330,PRAMEF11 HGDP00662 nsv433182 1 12802943 12883614 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463063 S 9 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA15510 nsv871065 1 12805718 12861980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518092,nssv1547151 M 6533 2 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 MS17216,SP57463 dgv162n71 1 12805718 13122944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871450,nsv870918,nsv870797,nsv871106,nsv871849 M 6533 0 5 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 IS30165,IS35018,SP54532,SP55764,SP57078 nsv870584 1 12814937 12845198 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505147,nssv1505715,nssv1517040,nssv1508674,nssv1508627,nssv1516189,nssv1516541,nssv1512222,nssv1512531 M 6533 5 4 HNRNPCL1,LOC649330,PRAMEF2 SP53276,SP53883,SP54607,SP54725,SP55346,SP55551,SP56518,SP56856,SP57067 nsv820528 1 12815653 12969918 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419881 S 1 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA10851 nsv436469 1 12815837 12871344 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466583 S 2 0 1 Samples from several populations that are part of the HapMap project. HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 NA18505 dgv16n67 1 12820351 12842775 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829437,nsv829426,nsv829459,nsv829448 M 31 7 0 HNRNPCL1,LOC649330,PRAMEF2 AK10,NA18526,NA18564,NA18570,NA18947,NA18949,NA18972 nsv819147 1 12826587 13093905 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418797 S 2 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 AK1 nsv821616 1 12826893 13583802 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421290,nssv1421363,nssv1421352,nssv1421179,nssv1421374,nssv1421341 M 31 6 0 HNRNPCL1,LOC440563,LOC649330,PRAMEF10,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv442514 1 12831824 12849694 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF2 dgv163n71 1 12831826 12870150 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871099,nsv871402 M 6533 2 0 PRAMEF2,PRAMEF4 SP55401,SP56114 essv24011 1 12833683 12846549 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PRAMEF2 NA12873 dgv10n27 1 12833787 12836483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460406,nsv460439,nsv460461,nsv460428,nsv460472,nsv460361,nsv460372,nsv460383,nsv460450,nsv460417,nsv460395 M 1557 0 11 "" HGDP00467,HGDP00541,HGDP00702,HGDP00832,HGDP00837,HGDP00846,HGDP00849,HGDP00876,HGDP00984,HGDP00995,HGDP00999 dgv164n71 1 12841261 12937470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870903,nsv871839,nsv871784 M 6533 0 5 PRAMEF10,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 IS30284,IS36955,IS40635,MS17580,SP81557 dgv165n71 1 12870150 12937470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870999,nsv871403,nsv871754,nsv870708 M 6533 0 8 PRAMEF10,PRAMEF6,PRAMEF7,PRAMEF8 IS33455,MS10626,MS10720,MS17808,SP54478,SP54776,SP56899,SP81263 dgv166n71 1 12904368 13083632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871544,nsv870609,nsv871509,nsv870916,nsv871006,nsv871963,nsv871454 M 6533 0 16 PRAMEF22,PRAMEF5,PRAMEF6 IS30325,IS33605,IS38106,MS10183,MS10413,MS13390,MS13444,MS15392,MS23811,SP50612,SP51279,SP54489,SP54648,SP55160,SP57604,SP58310 nsv508902 1 12920626 13058533 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619771,nssv623773 M 4 2 0 PRAMEF22,PRAMEF5,PRAMEF6 NA10860,NA18994 nsv510936 1 12920626 13521717 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621649,nssv624358 M 4 0 0 LOC440563,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA15510,NA18994 esv1004322 1 12920968 12975585 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586195 S 3 1 0 PRAMEF22,PRAMEF6 HuRef nsv870811 1 12924515 13083632 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582156,nssv1525680 M 6533 1 1 PRAMEF22,PRAMEF5,PRAMEF6 IS35802,SP56769 dgv167n71 1 12926001 13205019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870525,nsv871892 M 6533 0 2 LOC440563,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 IS34358,MS22930 nsv433183 1 12937471 13110000 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463064 S 9 0 1 Samples from several populations that are part of the HapMap project. LOC440563,PRAMEF22,PRAMEF5 NA19129 nsv821036 1 12969919 12975525 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419992 S 1 1 0 "" NA10851 nsv871466 1 12973925 13122944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583680 S 6533 1 0 LOC440563,PRAMEF5 IS36581 nsv871687 1 12973925 13205019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576627 S 6533 1 0 LOC440563,PRAMEF22,PRAMEF3,PRAMEF5 IS34185 esv1010773 1 13025586 13047004 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586120 S 3 1 0 PRAMEF5 HuRef nsv820886 1 13025610 13071008 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420103 S 1 0 1 PRAMEF5 NA10851 esv27872 1 13025610 13142282 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12755,esv19008,esv13717,esv10927,esv20862,esv19236,esv13674,esv20553,esv19875,esv10209 M 451 14 6 LOC440563,PRAMEF5 NA11894,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12878,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19190,NA19225 nsv871634 1 13033963 13662137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520368 S 6533 1 0 LOC440563,PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 SP50830 dgv168n71 1 13036311 13388933 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871157,nsv871923 M 6533 2 0 LOC440563,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 IS38162,IS41883 nsv870885 1 13044363 13247274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517448 S 6533 0 1 LOC440563,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 SP57274 dgv17n67 1 13065132 13110757 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829470,nsv829492,nsv829481 M 31 6 0 LOC440563 AK4,AK8,NA18564,NA18566,NA18592,NA18947 nsv112 1 13082358 13084889 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv112 S 1 1 0 "" NA15510 nsv821333 1 13084311 13142282 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420214 S 1 1 0 LOC440563 NA10851 esv8453 1 13101672 13110159 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30894 S 1 0 1 LOC440563 SJK esv987716 1 13134493 13142499 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586238 S 3 1 0 "" HuRef esv1000242 1 13192500 13241441 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586500 S 3 1 0 PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6 HuRef esv25471 1 13192634 13372033 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12571,esv16485,esv12763,esv17976,esv17726,esv18444,esv18416,esv17055,esv15096,esv12877,esv20457,esv10590 M 451 34 11 PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv832981 1 13202753 13389999 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442807 S 95 0 1 PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 nsv511155 1 13212653 13218406 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626055 S 1 0 1 "" 1 nsv821207 1 13219599 13301979 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420225 S 1 0 1 PRAMEF15,PRAMEF5,PRAMEF6,PRAMEF8,PRAMEF9 NA10851 nsv871291 1 13252464 13557988 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586518 S 6533 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 IS37848 esv1001235 1 13289638 13347927 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586342 S 3 1 0 PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv442562 1 13317495 13340609 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRAMEF14 esv1751185 1 13341076 13341129 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633436 S 2 0 1 "" HuRef nsv8879 1 13392625 13404986 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28030 S 31 1 0 Samples from several populations that are part of the HapMap project. PRAMEF20,PRAMEF21 NA10847 nsv8991 1 13419392 13622373 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13757,nssv28924,nssv14087,nssv12444,nssv29272,nssv14419,nssv14418,nssv11784,nssv13095,nssv12106,nssv14748,nssv13425,nssv14759,nssv12423,nssv12756,nssv12431,nssv12100,nssv16433,nssv28536,nssv11788,nssv15108,nssv13097,nssv13755,nssv12114,nssv12432,nssv12434,nssv12102,nssv12436,nssv12442,nssv13759,nssv12771,nssv28534,nssv12764,nssv13094,nssv15773,nssv12104,nssv13111,nssv13101,nssv13758,nssv11787,nssv12451,nssv12430,nssv12781,nssv14413,nssv14404,nssv15443,nssv14089,nssv12759,nssv14088,nssv28942,nssv13082,nssv13412,nssv12110,nssv14743,nssv15094,nssv13110,nssv13440,nssv13427,nssv28537,nssv16103,nssv14734,nssv12760,nssv15119,nssv12774,nssv29273,nssv11786,nssv28925 M 31 30 7 Samples from several populations that are part of the HapMap project. PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv871425 1 13421561 13548583 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544023 S 6533 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 MS16211 nsv870544 1 13421561 13587131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540747 S 6533 0 1 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 MS15014 nsv508137 1 13423878 13644737 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618967 S 4 0 1 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA10860 esv24967 1 13426574 13429455 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13012,esv20195 M 451 2 0 "" NA12878,NA18907 nsv820708 1 13479789 13525723 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420236 S 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 esv29915 1 13479789 13595707 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16388,esv10843,esv15458,esv16637,esv14244,esv11807 M 451 34 5 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv169n71 1 13480743 13592320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871777,nsv871149 M 6533 0 2 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 MS11361,MS22886 nsv871611 1 13500580 13614119 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558325 S 6533 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF9 MS23210 esv987523 1 13509546 13569151 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586687 S 3 1 0 PRAMEF13,PRAMEF14,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv871524 1 13542778 13592320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511989 S 6533 0 1 PRAMEF13,PRAMEF14,PRAMEF17,PRAMEF18,PRAMEF19 SP55223 nsv9102 1 13635069 13654782 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13441,nssv12762,nssv15449,nssv13770,nssv13431 M 31 1 4 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19173,NA19221,NA19240 nsv871035 1 13645076 13953335 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558615 S 6533 1 0 LRRC38,PDPN,PRDM2 MS23423 esv27160 1 13646671 13650046 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17463 S 451 0 4 "" NA18523,NA18858,NA19240,NA19257 nsv829503 1 13646704 13647506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425488 S 31 1 0 "" AK4 esv2421816 1 13647613 13649415 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5088842,essv5051994,essv5078655,essv5029052,essv5136291,essv5074912,essv5058297,essv5047739,essv5103764,essv5154357,essv5038344,essv5156754,essv5070195,essv5138283,essv5145851,essv5160977,essv5014986,essv5124207,essv5133703,essv5037812,essv5154618,essv5053308,essv5146662,essv5054130,essv5113890,essv5113231,essv5152549,essv5055935,essv5089793,essv5115047,essv5043697,essv5153368,essv5113057,essv5119368,essv5115799,essv5153639,essv5116299,essv5130030,essv5113322,essv5054861,essv5040208,essv5087732,essv5062851,essv5089820,essv5119297,essv5037910,essv5140759,essv5149288,essv5084227,essv5063651,essv5003662,essv5052409,essv5101761,essv5101907,essv5104141,essv5068630,essv5130729,essv5119113,essv5085452,essv5059200,essv5130132,essv5154171,essv5129509,essv5141839,essv5008201,essv5081621,essv5159320,essv5122714,essv5057582,essv5093159,essv5012309,essv5020433,essv5148013,essv5112792,essv5078647,essv5030554,essv5019707,essv5022297,essv5152519 M 1184 0 79 "" NA12340,NA18486,NA18497,NA18498,NA18500,NA18515,NA18516,NA18520,NA18858,NA18860,NA18910,NA19027,NA19028,NA19095,NA19097,NA19107,NA19109,NA19117,NA19137,NA19153,NA19154,NA19172,NA19173,NA19174,NA19197,NA19199,NA19206,NA19209,NA19210,NA19211,NA19239,NA19240,NA19257,NA19258,NA19307,NA19321,NA19381,NA19382,NA19403,NA19429,NA19438,NA19449,NA19451,NA19452,NA19463,NA19466,NA19468,NA19471,NA19474,NA20282,NA20297,NA20301,NA20332,NA20335,NA20348,NA20521,NA20768,NA20796,NA20799,NA20894,NA20906,NA21344,NA21359,NA21366,NA21381,NA21383,NA21399,NA21401,NA21402,NA21404,NA21405,NA21473,NA21520,NA21596,NA21608,NA21614,NA21616,NA21686,NA21740 nsv870787 1 13655941 13694622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558412 S 6533 1 0 LRRC38 MS23257 esv2504117 1 13668926 13669517 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309749 S 1 1 0 "" NA18507 nsv833092 1 13677506 13836511 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442829,nssv1442818 M 95 0 2 LRRC38,PDPN nsv518971 1 13678626 13688708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696439 S 2026 0 1 LRRC38 esv2376333 1 13721094 13721453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939438 S 1 0 1 "" NA18507 esv1009061 1 13721194 13721194 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570627 S 3 1 0 "" HuRef esv2417844 1 13766904 13767355 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564737 S 1 0 1 "" NA18507 nsv460483 1 13776302 13789584 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537046 S 1557 0 1 PDPN 1780854159_A esv270520 1 13812578 13812935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511920,essv2510686,essv2493308,essv2504204,essv2505998,essv2501024,essv2510822,essv2502129 M 157 8 0 Samples from several populations that are part of the HapMap project. PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 nsv3076 1 13826780 13857121 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv474 S 9 1 0 "" NA19240 nsv528139 1 13845837 13861814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704685 S 2026 0 1 "" esv1349671 1 13857506 13857506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353969 S 2 1 0 "" HuRef nsv523568 1 13864656 13877210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699350 S 2026 0 1 "" nsv3187 1 13864926 13910233 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7852 S 9 0 1 PRDM2 NA12156 nsv871863 1 14011400 14100664 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558413 S 6533 1 0 PRDM2 MS23257 nsv871015 1 14032799 14086550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593339 S 6533 1 0 "" IS39408 esv22539 1 14035627 14039603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16966,esv19106 M 451 0 10 "" NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA19099,NA19147,NA19225,NA19257 nsv508007 1 14057508 14063508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618491,nssv621465 M 4 0 2 "" CHM,NA15510 nsv516549 1 14081075 14081923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690011,nssv669085 M 2026 0 2 "" nsv870534 1 14104579 14259550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593340 S 6533 1 0 "" IS39408 nsv516435 1 14157047 14159051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681150,nssv683301,nssv668340 M 2026 0 3 "" esv35099 1 14167192 14242955 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979949,essv6986978 M 771 1 0 "" NA18863 esv24677 1 14167906 14168414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16259 S 451 0 1 "" NA19257 dgv26e1 1 14177669 14244987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1095,essv9545,essv11300 M 271 0 0 "" NA18861,NA18863 esv27027 1 14184196 14244173 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13313 S 451 1 0 "" NA18861 nsv524444 1 14186067 14243762 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700376 S 2026 1 0 "" nsv517840 1 14204527 14210431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695245 S 2026 0 1 "" esv1011257 1 14213421 14222133 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563991 S 3 0 1 "" HuRef esv2573663 1 14308679 14311820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360365 S 1 0 1 "" NA18507 nsv819952 1 14308680 14311417 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419473 S 2 0 1 "" AK1 nsv829514 1 14308848 14309351 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431794 S 31 0 1 "" AK20 esv270235 1 14308870 14309072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511449,essv2505102,essv2512440,essv2513178,essv2502516,essv2493382,essv2510523,essv2503037,essv2509677,essv2496486,essv2501176,essv2494717,essv2508926,essv2498301,essv2503314,essv2497288,essv2494540,essv2497116,essv2497750,essv2500052,essv2508300,essv2504521,essv2507862,essv2494465,essv2500085,essv2507683,essv2512691,essv2508440,essv2508702,essv2509972,essv2499321,essv2501622,essv2507498,essv2507109,essv2507423,essv2511639,essv2493069,essv2503738,essv2495147,essv2505681,essv2501390,essv2504784,essv2498982,essv2509519,essv2493549,essv2498673,essv2499721,essv2503604,essv2495758,essv2495048 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA11920,NA11995,NA12043,NA12249,NA12750,NA12776,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18870,NA18912,NA18940,NA18951,NA18960,NA18964,NA19005,NA19093,NA19099,NA19114,NA19129,NA19137,NA19138,NA19225 esv22693 1 14308898 14311535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17238 S 451 0 21 "" NA11931,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 esv3429 1 14309627 14311615 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25870 S 1 0 1 Single Asian sample YH "" YH dgv18n67 1 14309636 14310701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829537,nsv829525 M 31 0 2 "" NA18547,NA18949 nsv829548 1 14309636 14311391 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436328,nssv1422359,nssv1423396,nssv1434861,nssv1421444,nssv1423109,nssv1428816,nssv1423945,nssv1432008,nssv1440802,nssv1432529,nssv1431795,nssv1430332,nssv1434158,nssv1426373,nssv1431058,nssv1440119,nssv1437928,nssv1423978,nssv1433411 M 31 0 20 "" AK12,AK16,AK18,AK20,AK6,NA18526,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 esv6543 1 14309668 14311526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28984 S 1 0 1 "" SJK nsv528033 1 14413899 14418596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704564 S 2026 0 1 "" nsv460494 1 14549496 14576441 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537055 S 1557 0 1 "" 1780862466_A nsv520614 1 14550316 14551313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697519 S 2026 0 1 "" nsv518697 1 14550316 14561294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696148 S 2026 0 1 "" nsv833203 1 14551787 14593526 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442885,nssv1442840,nssv1442852,nssv1442929,nssv1442896,nssv1442940,nssv1442863,nssv1442918,nssv1442907,nssv1442874 M 95 5 5 "" esv2617537 1 14611089 14612630 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289167 S 1 0 1 "" NA18507 nsv512719 1 14691762 14691812 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625344 S 1 1 0 "" 1 esv1086173 1 14713592 14713592 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139423 S 2 1 0 "" HuRef nsv833314 1 14771742 14941463 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442951 S 95 0 1 KAZN nsv460506 1 14779801 14854507 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537067 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAZN HGDP00554 nsv3298 1 14784894 14812073 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7914 S 9 1 0 KAZN NA12156 nsv470697 1 14832760 14917383 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547709 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAZN HGDP00890 esv2637393 1 14851169 14852148 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269600 S 1 1 0 KAZN NA18507 esv1497348 1 14851595 14851595 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929982 S 2 1 0 KAZN HuRef nsv871585 1 14854507 14945201 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558414 S 6533 1 0 KAZN MS23257 nsv871843 1 14854507 14984514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538828 S 6533 0 1 KAZN MS13777 nsv870604 1 14950154 14998801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524751 S 6533 0 1 KAZN SP55209 esv8986 1 14986195 14986275 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31427 S 1 1 0 KAZN SJK esv1214811 1 15067050 15067050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234331 S 2 1 0 KAZN HuRef nsv820102 1 15128849 15133915 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419679 S 2 1 0 KAZN AK1 esv23718 1 15147508 15152160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11412 S 451 0 1 KAZN NA19099 nsv441681 1 15149071 15151883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KAZN esv27978 1 15199262 15199882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13462 S 451 0 1 KAZN NA19190 nsv520075 1 15213642 15214000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697211 S 2026 0 1 KAZN nsv527648 1 15213642 15215681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704119 S 2026 0 1 KAZN nsv517844 1 15213642 15216990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695248 S 2026 0 1 KAZN nsv521566 1 15215681 15219950 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698183 S 2026 1 0 KAZN nsv871490 1 15225407 15261260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529777 S 6533 0 1 KAZN MS10123 dgv170n71 1 15233395 15278076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871756,nsv871083 M 6533 0 2 KAZN MS13770,MS17208 esv22036 1 15237554 15238209 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11732 S 451 0 1 KAZN NA12776 esv1011013 1 15237876 15237985 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577254 S 3 0 1 KAZN HuRef esv1748933 1 15237878 15237988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823225 S 2 0 1 KAZN HuRef esv1186245 1 15238026 15238026 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944374 S 2 1 0 KAZN HuRef nsv870788 1 15241140 15297318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530419 S 6533 0 1 KAZN MS10311 esv2313486 1 15247610 15248022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985131 S 1 0 1 KAZN NA18507 nsv833425 1 15282413 15490811 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442963 S 95 1 0 C1orf126,FHAD1,KAZN,TMEM51 nsv508913 1 15291473 15364544 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619772 S 4 1 0 C1orf126,KAZN,TMEM51 NA10860 esv2618588 1 15309351 15309417 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193142 S 1 0 1 KAZN NA18507 esv22618 1 15328730 15333595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15067 S 451 0 1 C1orf126 NA18502 nsv437203 1 15360031 15362911 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467084 S 60 0 1 Samples from several populations that are part of the HapMap project. TMEM51 NA19103 nsv441682 1 15361772 15362873 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMEM51 nsv519926 1 15362404 15362471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690383,nssv689561,nssv687857,nssv659518 M 2026 0 4 TMEM51 esv271128 1 15362689 15362774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516145,essv2517814 M 157 2 0 Samples from several populations that are part of the HapMap project. TMEM51 NA12873,NA12878 esv273758 1 15362689 15362774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581422 S 7 1 0 Samples from several populations that are part of the HapMap project. TMEM51 NA12878 nsv159446 1 15373466 15383249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178024 M 24 TMEM51 nsv460550 1 15391379 15423112 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537098 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM51 HGDP00863 esv2750811 1 15402847 15423112 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981606,essv6981605,essv6985613 M 771 1 0 TMEM51 BEC_304 nsv871101 1 15404717 15442299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534675 S 6533 0 1 TMEM51 MS11726 esv2621292 1 15423576 15424577 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251821 S 1 1 0 "" NA18507 esv2423211 1 15429819 15431734 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345612 S 1 0 1 "" NA18507 esv28285 1 15448819 15450699 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15216 S 451 0 1 FHAD1 NA12749 esv27394 1 15453912 15454965 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14001 S 451 1 0 FHAD1 NA18861 nsv517234 1 15458200 15466253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654089,nssv691051,nssv669267,nssv678288 M 2026 4 0 FHAD1 esv2508152 1 15513246 15514137 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282605 S 1 1 0 FHAD1 NA18507 nsv833536 1 15522588 15727912 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442974,nssv1442985 M 95 0 2 CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 nsv460561 1 15559646 15622804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537108 S 1557 0 1 EFHD2,FHAD1 NINDS_60 esv2117572 1 15644908 15645240 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687770 S 1 0 1 CTRC NA18507 nsv441683 1 15665011 15683808 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA2A,CELA2B nsv818056 1 15669395 15681459 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415732,nssv1415731 M 112 0 2 CELA2A,CELA2B NA12865,NA12875 esv29612 1 15785729 15786199 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18278 S 451 1 0 "" NA19240 nsv471769 1 15805560 15811009 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646050 M 0.128 95 "" esv259731 1 15817145 15819732 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395610 S 144 0 0 Samples from several populations that are part of the HapMap project. DDI2 NA18501 dgv171n71 1 15874175 15959751 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871400,nsv870635,nsv871913,nsv871528,nsv871635,nsv871724,nsv870501 M 6533 31 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 IS30039,IS30238,IS30244,IS30605,IS31679,IS32395,IS32761,IS33551,IS34515,IS34627,IS34630,IS34658,IS34770,IS35771,IS36077,IS36269,IS36458,IS37159,IS38265,IS38575,IS39026,IS39102,IS39527,IS39642,IS39788,IS40192,IS40267,IS41921,IS41949,MS14330,MS17665 nsv524044 1 15874175 16034423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699908 S 2026 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL esv28978 1 15882131 15883977 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21090 S 451 1 0 PLEKHM2 NA06985 dgv11n27 1 15888573 15967903 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460583,nsv460572 M 1557 2 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160 dgv172n71 1 15900960 15954941 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871028,nsv871457,nsv870590 M 6533 7 0 PLEKHM2,SLC25A34,TMEM82 IS31909,IS33553,IS34700,IS35428,IS35572,IS37573,MS10959 nsv508925 1 15916178 16002655 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619773 S 4 1 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 NA10860 dgv173n71 1 15920592 15969824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871925,nsv871125,nsv871727 M 6533 0 3 FBLIM1,PLEKHM2,SLC25A34,TMEM82 IS33504,IS39233,SP54956 nsv871462 1 15920592 15983402 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543354,nssv1576251,nssv1577470 M 6533 1 2 FBLIM1,PLEKHM2,SLC25A34,TMEM82 IS34005,IS34468,MS16153 nsv871550 1 15920592 15995786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530420 S 6533 0 1 FBLIM1,PLEKHM2,SLC25A34,TMEM82 MS10311 nsv870503 1 15920592 16061268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546449 S 6533 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,SPEN,TMEM82,UQCRHL MS17208 nsv460594 1 15948493 15998794 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537135 S 1557 0 1 FBLIM1 NINDS_70 nsv527046 1 15959847 15983402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703422 S 2026 0 1 FBLIM1 nsv833647 1 15993124 16151416 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442996 S 95 0 1 FLJ37453,SPEN,UQCRHL,ZBTB17 nsv871162 1 15998794 16281504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558415 S 6533 1 0 C1orf64,CLCNKA,CLCNKB,FAM131C,FLJ37453,HSPB7,SPEN,UQCRHL,ZBTB17 MS23257 dgv27e1 1 16000067 16027694 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv939,essv22007,essv19370 M 271 0 0 UQCRHL NA07019,NA12815 nsv3409 1 16009070 16051776 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8042 S 9 0 1 FLJ37453,SPEN NA12156 nsv511126 1 16021888 16034423 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626032 S 1 0 1 FLJ37453 1 nsv511677 1 16024357 16028385 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626315 S 1 0 1 "" 1 esv1010744 1 16024518 16030696 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564107 S 3 0 1 "" HuRef nsv498663 1 16024530 16028020 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585393 S 9 0 1 "" esv29597 1 16024861 16028089 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17422 S 451 0 12 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510 nsv513982 1 16024864 16026544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627625 S 1414 0 1 "" nsv829559 1 16058573 16065542 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422361,nssv1428817,nssv1439448 M 31 0 3 SPEN AK12,NA18537,NA18552 esv22591 1 16082863 16086049 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17906 S 451 1 0 SPEN NA12287 nsv508936 1 16114934 16380107 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619774,nssv619775 M 4 1 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,SPEN,ZBTB17 NA10860 dgv174n71 1 16132400 16455273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871248,nsv871629 M 6533 0 2 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,FBXO42,HSPB7,RSG1,SPEN,ZBTB17 MS10311,MS17208 nsv833758 1 16168110 16339601 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443007,nssv1443018 M 95 1 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,ZBTB17 nsv871695 1 16182875 16245711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585784 S 6533 0 1 C1orf64,CLCNKA,CLCNKB,HSPB7 IS37646 nsv517651 1 16204496 16253169 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674672,nssv674154,nssv673550,nssv698988,nssv673015,nssv683426,nssv666809,nssv680689,nssv655929,nssv654197,nssv688461,nssv683268,nssv692238,nssv674326,nssv701339,nssv687387,nssv692440,nssv653845,nssv672518,nssv667590,nssv653562,nssv661818,nssv678289,nssv680788,nssv664299,nssv669916,nssv670058,nssv700288,nssv663351,nssv664812,nssv685627,nssv659185,nssv669108,nssv673768,nssv701973,nssv687919,nssv656190,nssv675618,nssv668525,nssv669004,nssv656487 M 2026 5 36 C1orf64,CLCNKA,CLCNKB,HSPB7 dgv175n71 1 16204496 16265944 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871325,nsv871678 M 6533 2 0 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 IS37784,IS38430 dgv176n71 1 16204496 16286675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871209,nsv871626,nsv871582,nsv871757 M 6533 0 4 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 IS38403,IS39233,MS10123,MS15835 nsv520148 1 16204496 16338590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697249 S 2026 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv871485 1 16204496 16386930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543355 S 6533 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 MS16153 nsv524045 1 16204496 16425359 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699909 S 2026 0 1 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 dgv12n27 1 16213047 16240990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460618,nsv460605 M 1557 0 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv460629 1 16213047 16253169 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537170 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLCNKA,CLCNKB,HSPB7 HGDP01090 nsv470698 1 16213047 16269393 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547710 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00661 dgv13n27 1 16219044 16249418 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460651,nsv460640 M 1557 2 0 CLCNKA,CLCNKB HGDP00906,HGDP00941 nsv870526 1 16219044 16265944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538566 S 6533 0 1 CLCNKA,CLCNKB,FAM131C MS13770 esv25815 1 16219529 16263470 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10646,esv17676 M 451 8 0 CLCNKA,CLCNKB,FAM131C NA12156,NA12489,NA12828,NA18508,NA18858,NA18861,NA18909,NA19108 dgv2n64 1 16220999 16240911 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818078,nsv818067 M 112 5 0 CLCNKA NA19143,NA19172,NA19173,NA19193,NA19194 esv8597 1 16222373 16244282 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31038 S 1 0 1 CLCNKA,CLCNKB SJK dgv177n71 1 16230672 16340511 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871261,nsv871770,nsv871868 M 6533 0 4 CLCNKA,CLCNKB,EPHA2,FAM131C IS33162,IS33684,IS38388,IS40799 nsv829570 1 16231948 16276219 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426375 S 31 1 0 CLCNKA,CLCNKB,FAM131C AK6 esv2434454 1 16233712 16258094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273432 S 1 0 1 CLCNKB,FAM131C NA18507 nsv511678 1 16234015 16256717 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626316 S 1 0 1 CLCNKB 1 esv995840 1 16234677 16257931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574114 S 3 0 1 CLCNKB,FAM131C HuRef nsv436443 1 16235848 16256942 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466694 S 2 0 1 Samples from several populations that are part of the HapMap project. CLCNKB,FAM131C NA18505 dgv1e19 1 16236387 16261761 CNV Loss Ahn et al 2009 19470904 Sequencing esv5890,esv5593 M 1 0 1 CLCNKB,FAM131C SJK nsv871112 1 16236512 16265944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504782 S 6533 1 0 CLCNKB,FAM131C SP52729 esv32650 1 16236614 16262379 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93058,essv95958,essv97715 M 51 3 0 CLCNKB,FAM131C 21863,22127,22278 nsv441684 1 16240718 16251918 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CLCNKB esv6377 1 16249093 16258857 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28818 S 1 0 1 CLCNKB,FAM131C SJK esv1006289 1 16249104 16249104 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572231 S 3 1 0 CLCNKB HuRef esv1779187 1 16249105 16249105 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873209 S 2 1 0 CLCNKB HuRef nsv870466 1 16249540 16278749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509727 S 6533 0 1 CLCNKB,FAM131C SP54956 nsv870801 1 16269393 16378495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549606 S 6533 0 1 EPHA2,FAM131C MS18276 esv1072127 1 16293810 16293810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733226 S 2 1 0 "" HuRef nsv833869 1 16309340 16477716 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443029 S 95 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 nsv871825 1 16315495 16402636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585785 S 6533 0 1 ARHGEF19,EPHA2 IS37646 nsv870978 1 16327730 16455273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592096 S 6533 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 IS39233 nsv470699 1 16338590 16403303 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547711 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF19,EPHA2 HGDP00697 esv1258099 1 16363142 16363142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037753 S 2 1 0 "" HuRef esv1271324 1 16365234 16365294 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655096 S 2 0 1 "" HuRef dgv2e180 1 16365251 16365322 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993479,esv993773 M 3 0 1 "" HuRef nsv3520 1 16420395 16454833 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2762 S 9 1 0 FBXO42,RSG1 NA18555 esv1036042 1 16510169 16510169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767129 S 2 1 0 FBXO42 HuRef esv2618916 1 16512355 16512407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350545 S 1 0 1 FBXO42 NA18507 nsv511679 1 16559188 16563537 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626317 S 1 0 1 "" 1 nsv829581 1 16621237 16627622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421445 S 31 0 1 SPATA21 NA18997 esv1035588 1 16623300 16623300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853896 S 2 1 0 SPATA21 HuRef dgv19n67 1 16623746 16627622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829603,nsv829592 M 31 0 3 SPATA21 AK14,AK6,NA18969 dgv28e1 1 16636920 16998245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2595,essv16154,essv4125,essv16669,essv15101,essv18376,essv3387,essv6723,essv4977,essv404,essv9940 M 271 0 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2 NA12249,NA18555,NA18608,NA18637,NA18945,NA18971,NA18990,NA19100,NA19129,NA19142,NA19145 dgv29e1 1 16636920 17356568 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20767,essv1374,essv10302,essv2981,essv14148,essv16876,essv17478,essv11274,esv697,essv11570,essv10234,essv19098,essv20074,essv9815,essv8109,essv17163,essv7338,essv22395,essv11946,essv11626,essv2165 M 271 0 0 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PADI2,SDHB NA07048,NA07055,NA12146,NA12762,NA12875,NA18502,NA18506,NA18570,NA18863,NA18960,NA18981,NA19007,NA19140,NA19152,NA19154,NA19171,NA19173,NA19204,NA19205,NA19206 nsv428421 1 16636920 17356568 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454276,nssv454487,nssv454509,nssv454421,nssv454443,nssv454432,nssv454265,nssv454387,nssv454465,nssv454332,nssv454476,nssv454454,nssv454343,nssv454376,nssv454310,nssv454521,nssv454299,nssv454398,nssv454354,nssv454498,nssv454410,nssv454321,nssv454365 M 62 17 6 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1,NECAP2,PADI2,SDHB HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19147,NA19181,NA19225,NA19257 dgv1n68 1 16638358 16809279 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833980,nsv834092 M 95 0 8 CROCCP3,MIR3675,NBPF1,NECAP2 nsv9213 1 16649604 16652120 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13424,nssv12118,nssv15103 M 31 0 3 Samples from several populations that are part of the HapMap project. NECAP2 NA18504,NA18517,NA19144 nsv9324 1 16669734 17153811 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14414,nssv14744,nssv13420,nssv13750,nssv16414,nssv16763,nssv12440,nssv13426,nssv14091,nssv14740,nssv17093,nssv15779,nssv13761,nssv12766,nssv13092,nssv28922,nssv13422,nssv12753,nssv13752,nssv13089,nssv14421,nssv12098,nssv16098,nssv13754,nssv15104,nssv11767,nssv13756,nssv14082,nssv13742,nssv13096,nssv14084,nssv13104,nssv29254,nssv13419,nssv12116,nssv14410,nssv15438,nssv11785,nssv14430,nssv15754,nssv14085,nssv17423,nssv29255,nssv12778,nssv12448,nssv13749,nssv13090,nssv14080,nssv12758,nssv14760,nssv14100,nssv15768,nssv11768,nssv15424,nssv12428,nssv14415,nssv16084,nssv12097 M 31 11 17 Samples from several populations that are part of the HapMap project. CROCC,CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA18502,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173,NA19221 nsv870673 1 16671382 17055702 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561968 S 6533 1 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 MS25304 nsv436814 1 16678681 16822828 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465509 S 2 1 0 Samples from several populations that are part of the HapMap project. CROCCP2,CROCCP3,MIR3675,NBPF1 NA18505 esv2750816 1 16681281 16902301 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981188,essv6985510 M 771 1 0 CROCCP2,CROCCP3,ESPNP,MIR3675,MST1P2,NBPF1 BEC_362 dgv30e1 1 16681281 17215355 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9970,essv949,essv10181,essv12895,essv10959,essv7936,essv15194,essv7990,essv21574,essv8050,essv8586,essv13308,essv11038,essv14673,essv14235,essv8266,essv13252,essv8718,essv12447,essv9267,essv8984,essv15917,essv6477,essv6464,essv7960,essv16559,essv4644,essv12117,essv19900,essv12088,essv14574,essv13338,essv18898,essv9441,essv10442,essv12873,essv8565,essv23321 M 271 0 0 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,MFAP2,MIR3675,MST1P2,MST1P9,NBPF1 NA12146,NA12264,NA12717,NA12813,NA18500,NA18502,NA18503,NA18504,NA18515,NA18516,NA18522,NA18594,NA18636,NA18637,NA18981,NA19092,NA19099,NA19100,NA19103,NA19130,NA19137,NA19139,NA19143,NA19145,NA19152,NA19153,NA19173,NA19193,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19208,NA19209,NA19221 nsv159668 1 16682453 16684183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178246 M 24 CROCCP3 esv33046 1 16694145 16885111 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101566,essv101021,essv98327,essv94690,essv97938,essv95236,essv97341,essv101730,essv95920,essv96456,essv96254 M 51 0 11 CROCCP2,MIR3675,MST1P2,NBPF1 21603,21693,21772,21791,21837,21872,21879,21909,21911,22261,22371 essv25036 1 16700378 16817945 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CROCCP2,MIR3675,NBPF1 NA12801 dgv20n67 1 16704467 16979088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821710,nsv829614,nsv821699,nsv829636 M 31 4 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA18564,NA18570,NA18973,NA18997 nsv821511 1 16704467 16979088 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420247 S 1 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA10851 nsv829625 1 16704467 17154340 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423407,nssv1423946,nssv1423110,nssv1428819,nssv1434862,nssv1427247,nssv1431796,nssv1433412,nssv1428017,nssv1437217,nssv1436329 M 31 11 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 AK10,AK12,AK20,AK8,NA18526,NA18542,NA18582,NA18942,NA18949,NA18968,NA18999 esv29642 1 16705673 16998216 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20185,esv17891,esv13221,esv20857,esv20432,esv12183,esv16441,esv17374,esv12048,esv17903,esv15698,esv11265,esv18819,esv19804,esv18078,esv10634 M 451 26 20 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA07045,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv31e1 1 16729814 16928493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16398,essv9511,essv8527,essv18478,essv24736,essv15397,essv15729,essv19470,essv12804,essv17392,essv22522,essv14216,essv9681,essv16000,essv19114 M 271 0 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA11829,NA11882,NA12044,NA12156,NA12750,NA18501,NA18521,NA18523,NA18855,NA18913,NA19120,NA19131,NA19139,NA19203 dgv32e1 1 16729814 16998245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23488,essv20254,essv1741,essv2334,essv6017,essv22908,essv23350,essv15858,essv5156,essv21549,essv5730,essv14729,essv447,essv17268,essv7145 M 271 0 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA07034,NA12144,NA12750,NA12760,NA12873,NA18503,NA18547,NA18564,NA18571,NA18593,NA18940,NA18952,NA18997,NA19159,NA19223 dgv33e1 1 16736674 16841682 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9844,essv19066 M 271 0 0 CROCCP2,MIR3675,NBPF1 NA11830,NA19144 nsv834203 1 16738731 16782708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443251,nssv1443218,nssv1443129,nssv1443140,nssv1443151,nssv1443162,nssv1443196,nssv1443229,nssv1443185,nssv1443207,nssv1443173,nssv1443240 M 95 0 12 MIR3675,NBPF1 essv17368 1 16743903 16803593 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR3675,NBPF1 NA18517 nsv499577 1 16751952 16879556 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585483 S 9 0 0 CROCCP2,MST1P2,NBPF1 nsv7173 1 16758161 17136901 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1910,nssv5314,nssv5331,nssv3885,nssv929,nssv9691,nssv747,nssv11237,nssv9949,nssv10485,nssv10890,nssv9682,nssv10507,nssv5304,nssv10523,nssv3861,nssv657,nssv10882,nssv9405,nssv1777,nssv3851,nssv9355,nssv1903,nssv6334,nssv1893,nssv1863 M 9 0 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv3632 1 16758433 16793011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5295,nssv2682,nssv3801,nssv9681,nssv11241,nssv564,nssv6260 M 9 7 0 NBPF1 NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 nsv834247 1 16759150 16869758 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443296,nssv1443273,nssv1443373,nssv1443362,nssv1443340,nssv1443307,nssv1443262,nssv1443318,nssv1443329,nssv1443351,nssv1443284,nssv1443384 M 95 1 11 CROCCP2,MST1P2,NBPF1 nsv221 1 16760883 16764275 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv221 S 1 1 0 NBPF1 NA15510 nsv471343 1 16762999 16791276 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548026,nssv548025,nssv548027 M 3 NBPF1 nsv471344 1 16762999 16812569 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548029,nssv548028,nssv548030 M 3 NBPF1 nsv482190 1 16762999 16812569 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558551 S 1 1 0 NBPF1 KB1 nsv514916 1 16764035 16766562 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628444 S 1414 0 0 NBPF1 nsv435932 1 16764976 16765094 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465620 S 2 1 0 NBPF1 NA15510 nsv159149 1 16765080 16766617 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177727 M 24 NBPF1 nsv436039 1 16765276 16765332 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465731 S 2 1 0 NBPF1 NA15510 esv34697 1 16767863 16918233 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979544,essv6986884,essv6990378 M 771 1 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA18570 nsv3743 1 16772086 16818208 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3842,nssv835 M 9 0 2 CROCCP2,NBPF1 NA12878,NA19240 dgv1n16 1 16781280 16788232 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436307,nsv435920 M 2 0 2 NBPF1 NA15510,NA18505 nsv160674 1 16783342 16789645 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179252 M 24 NBPF1 dgv34e1 1 16792858 17172570 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1312,essv2566,essv7452,essv2391,essv5863,essv1654,essv1297,essv4527,essv9483,essv1070,essv3658,essv635,essv3575,essv2922,essv1545,essv7886,essv14835,essv19315,essv11327,essv14917,essv22714,essv98,essv18806,essv4106,essv9528,essv8675,essv3489,essv4325,essv3943,essv20473,essv18690,essv1669,essv2946,essv12074,essv5077,essv507,essv3913,essv21893,essv10512,essv7246,essv7670,essv13813,essv8492,essv22267,essv23764,essv20753,essv21960,essv11309,essv5427,essv23713,essv14801,essv19814,essv24438,essv24019,essv5680,essv5953,essv24605,essv2,essv13968,essv14021,essv24180,essv613,essv22697,essv7649,essv21496,essv23097,essv8061,essv192,essv20981,essv2727,essv3252,essv13992,essv1573,essv1690,essv5646,essv2702,essv20819,essv1807,essv2144 M 271 0 0 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9,NBPF1 NA06991,NA07000,NA07357,NA10855,NA10863,NA11992,NA11994,NA12003,NA12004,NA12043,NA12056,NA12239,NA12248,NA12249,NA12740,NA12751,NA12864,NA12865,NA12872,NA12873,NA12875,NA18529,NA18542,NA18555,NA18564,NA18570,NA18577,NA18579,NA18582,NA18605,NA18620,NA18623,NA18632,NA18635,NA18853,NA18854,NA18863,NA18870,NA18944,NA18945,NA18947,NA18952,NA18960,NA18961,NA18965,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18978,NA18980,NA18987,NA18990,NA18991,NA18992,NA18994,NA18997,NA18998,NA18999,NA19005,NA19007,NA19012,NA19098,NA19101,NA19119,NA19128,NA19129,NA19140,NA19143,NA19154,NA19160,NA19161,NA19222,NA19223,NA19238 esv2597795 1 16795117 16841025 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337771 S 1 1 0 CROCCP2,NBPF1 NA18507 dgv35e1 1 16795403 16841682 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19889,essv6793 M 271 0 0 CROCCP2,NBPF1 NA11881,NA18594 dgv36e1 1 16795403 16928493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6935,essv25159,essv12038,essv21752,essv24554,essv15449,essv23162,essv15972,essv8991,essv11603,essv5622,essv19145,essv15156,essv22785,essv10595,essv6079 M 271 0 0 CROCCP2,ESPNP,MIR3675,MST1P2,NBPF1 NA10831,NA10861,NA11831,NA11839,NA12753,NA12812,NA18593,NA18608,NA18621,NA19116,NA19142,NA19194,NA19206,NA19207,NA19210,NA19211 nsv469795 1 16795827 16882680 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649816 M 265 45 1 Samples from several populations that are part of the HapMap project. CROCCP2,MIR3675,MST1P2,NBPF1 nsv471655 1 16795828 16882680 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550580,nssv550572,nssv550599,nssv550575,nssv550596,nssv550585,nssv550574,nssv550579,nssv550590,nssv550595,nssv550598,nssv550581,nssv550577,nssv550592,nssv550589,nssv550571,nssv550591,nssv550573,nssv550597,nssv550576,nssv550593,nssv550586,nssv550583,nssv550582,nssv550594,nssv550584,nssv550588,nssv550587,nssv550578 M 48 2 27 CROCCP2,MIR3675,MST1P2,NBPF1 JK1051,JK1058,JK776,NA10469,NA10494,NA10495,NA10496,NA10967,NA10969,NA10976,NA10979,NA11521,NA11523,NA15724,NA15725,NA15726,NA15728,NA15730,NA15731,NA15732,NA15733,NA17014,NA17015,NA17016,NA17020,NA17051,NA17052,NA17059,P86GA essv11467 1 16795835 16803593 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NBPF1 NA18856 nsv3854 1 16817728 16837158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3870 S 9 1 0 CROCCP2 NA12878 esv29948 1 16820714 17130584 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84187 S 3 0 1 CROCC,CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 WATSON dgv21n67 1 16825663 16979088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821721,nsv821732 M 31 2 0 CROCCP2,ESPNP,MIR3675,MST1P2,MST1P9 AK14,NA18547 dgv37e1 1 16832049 16928493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6418,essv2364,essv19296,essv19712,essv18520,essv20548,essv7638,essv14928,essv19372,essv995 M 271 0 0 ESPNP,MIR3675,MST1P2 NA07019,NA07022,NA11995,NA12236,NA12763,NA18545,NA18547,NA18964,NA18995,NA19132 dgv38e1 1 16832049 17088918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv747,essv18043,essv722,essv13406,essv19835 M 271 0 0 ESPNP,MIR3675,MST1P2,MST1P9 NA06993,NA10847,NA18872,NA18940,NA19003 nsv436652 1 16847039 16955830 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465873 S 2 0 0 Samples from several populations that are part of the HapMap project. ESPNP,MIR3675,MST1P2,MST1P9 NA18505 nsv160333 1 16873514 16873824 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178911 M 24 "" dgv178n71 1 16877437 17155012 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871363,nsv871292,nsv871526,nsv871417,nsv870770,nsv871699,nsv871087 M 6533 18 0 CROCC,ESPNP,MIR3675,MST1P9 IS30522,IS31145,IS31169,IS31369,IS33712,IS34059,IS36992,IS38610,IS38651,IS39243,IS40254,IS41832,IS41939,MS16039,MS23602,SP53407,SP54408,SP54812 esv6890 1 16878851 16925032 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29331 S 1 0 0 ESPNP,MIR3675 SJK dgv39e1 1 16880179 16998245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3203,essv21290,essv6578,essv15527,essv15232,essv18131,essv12558,essv12264,essv3462,essv4752,essv21756,essv6329,essv24418,essv8651,essv24798,essv4243,essv14389,essv5796,essv5201,essv6909,essv20425,essv5576,essv3706,essv14604,essv24578,essv20210,essv529,essv16393,essv9749,essv17956,essv21315,essv11094,essv9084,essv1465,essv4715,essv7828,essv23121,essv1164,essv7560,essv1152,essv22983,essv2656 M 271 0 0 ESPNP,MIR3675,MST1P9 NA07357,NA10830,NA10855,NA10860,NA11832,NA11992,NA11993,NA12003,NA12239,NA12707,NA12878,NA12891,NA18505,NA18507,NA18529,NA18545,NA18558,NA18566,NA18603,NA18605,NA18609,NA18611,NA18620,NA18621,NA18622,NA18913,NA18944,NA18947,NA18951,NA18964,NA18967,NA18974,NA18992,NA18998,NA19093,NA19094,NA19098,NA19101,NA19132,NA19139,NA19211,NA19239 dgv40e1 1 16880179 17356568 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1499,essv9388 M 271 0 0 ATP13A2,CROCC,ESPNP,MFAP2,MIR3675,MST1P9,PADI2,SDHB NA18853,NA18980 dgv2n6 1 16882144 16885348 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159352,nsv159492 M 24 "" nsv438303 1 16884242 16896887 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469074,nssv468852,nssv468963,nssv468740 M 269 0 4 Samples from several populations that are part of the HapMap project. ESPNP NA12802,NA12815,NA19138,NA19139 esv33965 1 16884707 17152562 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101508,essv97457,essv101115,essv93832,essv101061,essv95128,essv98340,essv98164,essv94416,essv96937,essv97929,essv95690,essv95548,essv93056,essv95397,essv97342,essv97317,essv101652,essv101691,essv95885,essv95797,essv94631,essv94591,essv99013,essv92701,essv96578,essv97172,essv93586,essv93568,essv93286,essv94915,essv92596,essv96504,essv99198,essv97738,essv100280,essv100508,essv100427,essv96287 M 51 31 7 CROCC,ESPNP,MIR3675,MST1P9 21603,21616,21618,21634,21693,21721,21772,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21944,22011,22075,22128,22170,22231,22233,22261,22275,22278,22286,22298,22300,22371 esv2547944 1 16885327 16923389 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366950 S 1 1 0 ESPNP NA18507 nsv821743 1 16886175 16979088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437930 S 31 1 0 ESPNP,MST1P9 NA18951 nsv437204 1 16887281 16896887 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467085 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA18506 nsv821754 1 16887848 16905451 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426377 S 31 1 0 ESPNP AK6 nsv821765 1 16887848 16926498 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440804 S 31 1 0 ESPNP NA18969 nsv819277 1 16891008 16926528 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418721 S 2 1 0 ESPNP AK1 nsv437205 1 16891707 16908818 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467086 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP NA19139 dgv41e1 1 16895990 17143724 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1047,essv5657,essv5761,essv18576,essv7481,essv6198,essv5003,essv4337,essv17409,essv3327,essv7051,essv25180,essv8890,essv1975,essv3684,essv6855,essv934,essv2412,essv3853,essv3440,essv2114 M 271 0 0 CROCC,ESPNP,MIR3675,MST1P9 NA10851,NA11840,NA12760,NA18526,NA18540,NA18558,NA18561,NA18563,NA18571,NA18612,NA18622,NA18942,NA18943,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18975,NA19171 nsv437206 1 16896887 16955848 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467087 S 60 0 1 Samples from several populations that are part of the HapMap project. ESPNP,MST1P9 NA18863 essv15944 1 16897692 16928493 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ESPNP NA18515 nsv511141 1 16907780 16919043 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625265 S 1 0 1 ESPNP 1 essv19867 1 16908187 16928493 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ESPNP NA12234 esv2440890 1 16923389 16926768 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191715 S 1 1 0 "" NA18507 dgv22n67 1 16923424 16979241 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821776,nsv821787,nsv821798,nsv821810 M 31 4 0 MST1P9 AK16,AK18,AK2,AK4 nsv3965 1 16925098 16957629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5340,nssv3893 M 9 2 0 MST1P9 NA12878,NA19129 nsv436227 1 16934681 17059410 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465895 S 2 0 1 Samples from several populations that are part of the HapMap project. MIR3675,MST1P9 NA18505 nsv436024 1 16935707 17060890 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465906 S 2 1 0 MIR3675,MST1P9 NA15510 nsv498664 1 16944010 16945799 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585404 S 9 0 1 "" dgv179n71 1 16979082 17155012 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871618,nsv871880 M 6533 7 0 CROCC,MIR3675 IS30953,IS32680,IS35717,IS37520,IS38069,IS41956,SP55684 esv26111 1 17048309 17154340 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11182,esv20155,esv11657,esv15416,esv15181,esv20295,esv18904,esv16106 M 451 16 11 CROCC,MIR3675 NA07037,NA07045,NA11894,NA11993,NA12156,NA12414,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv821037 1 17048309 17154340 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420258 S 1 1 0 CROCC,MIR3675 NA10851 nsv834258 1 17049946 17153536 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443395,nssv1443407,nssv1443418 M 95 0 3 CROCC,MIR3675 nsv834269 1 17054365 17237613 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443551,nssv1443562,nssv1443606,nssv1443495,nssv1443429,nssv1443462,nssv1443518,nssv1443617,nssv1443440,nssv1443529,nssv1443629,nssv1443473,nssv1443573,nssv1443595,nssv1443640,nssv1443651,nssv1443506,nssv1443540,nssv1443484,nssv1443451,nssv1443662,nssv1443584 M 95 0 22 ATP13A2,CROCC,MFAP2,MIR3675,SDHB esv990069 1 17063449 17134834 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586006 S 3 0 1 CROCC HuRef nsv442727 1 17067742 17134834 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CROCC dgv180n71 1 17075479 17148404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870547,nsv870479 M 6533 0 3 CROCC SP51025,SP52946,SP57243 dgv23n67 1 17080164 17145194 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821832,nsv821821 M 31 2 0 CROCC NA18547,NA18592 nsv433184 1 17081038 17135964 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463065 S 9 0 1 Samples from several populations that are part of the HapMap project. CROCC NA12156 dgv181n71 1 17081038 17148404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871712,nsv871436,nsv870898,nsv870928 M 6533 7 0 CROCC SP50082,SP52409,SP53473,SP54389,SP54510,SP55698,SP55984 dgv182n71 1 17081038 17153590 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871773,nsv870812 M 6533 2 4 CROCC SP51499,SP52017,SP54127,SP54734,SP57193,SP57430 esv29988 1 17081919 17124754 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84227 S 2 0 1 CROCC HuRef esv2421455 1 17082190 17140083 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5054086,essv5077283,essv5032170,essv5111824,essv5124332,essv5042829,essv5031308,essv5029838,essv5101917,essv5032316,essv5121813,essv5111803,essv5018172,essv5128068,essv5139328,essv5154202,essv5064272,essv5149086,essv5076597,essv5037077,essv5155101,essv5103759,essv5119538,essv5090959,essv5061003,essv5152984,essv5102550,essv5117088,essv5033382,essv5028158,essv5057556,essv5107567,essv5113257,essv5077016,essv5136376,essv5038223,essv5147986,essv5124020,essv5106431,essv5145666,essv5020012,essv5040787,essv5051588,essv5067874,essv5032838,essv5021982,essv5010456,essv5155596,essv5105600,essv5054766,essv5148378,essv5139461,essv5057255,essv5009191,essv5123038,essv5089140,essv5016066,essv5004269,essv5039437,essv5071647,essv5056899,essv5143147,essv5108682,essv5050841,essv5153944,essv5157797,essv5128349,essv5147022,essv5096758,essv5022891,essv5037850,essv5127759,essv5089873,essv5153097,essv5135966,essv5148185,essv5042763,essv5103479,essv5103826,essv5131352,essv5007479,essv5159082,essv5034838,essv5110272,essv5105069,essv5151178,essv5079108,essv5075932,essv5050331,essv5060130,essv5112080,essv5060841,essv5159525,essv5016821,essv5048230,essv5076924,essv5076127,essv5015485,essv5124242,essv5157953,essv5009278,essv5159099,essv5047389,essv5052144,essv5143625,essv5031423,essv5091243,essv5085316,essv5086951,essv5030592,essv5139651,essv5019668,essv5065387,essv5051479,essv5048475,essv5026401,essv5044987,essv5045712,essv5091035,essv5101695,essv5084304,essv5002204,essv5157199,essv5121988,essv5088248,essv5117492,essv5007344,essv5160920,essv5093849,essv5024780,essv5099230,essv5023433,essv5107641,essv5086692,essv5128868,essv5054193,essv5117269,essv5152822,essv5026386,essv5010139,essv5016691,essv5134163,essv5059367,essv5012897,essv5130918,essv5007504,essv5138662,essv5078913,essv5003156,essv5098676,essv5130731,essv5019753,essv5060943,essv5002508,essv5045249,essv5044592,essv5136646,essv5091443,essv5065965,essv5160258,essv5035906,essv5131593,essv5016687,essv5048632,essv5127109,essv5103126,essv5151782,essv5082199,essv5033107,essv5113637,essv5046441,essv5007467,essv5024608,essv5039517,essv5091949,essv5147309,essv5103778,essv5038858,essv5104936,essv5014694,essv5064371,essv5089028,essv5140684,essv5133752,essv5006467,essv5146556,essv5055154,essv5082429,essv5096269,essv5079911,essv5049281,essv5085572,essv5124993,essv5111040,essv5092709,essv5057234,essv5008077,essv5117284,essv5141036,essv5133268,essv5064954,essv5125769,essv5147504,essv5133749,essv5117717,essv5142986,essv5047731,essv5085246,essv5115530,essv5115299,essv5090302,essv5152854,essv5116384,essv5143890,essv5075589,essv5022534,essv5134482,essv5122841,essv5156750,essv5102812,essv5117231,essv5103855,essv5123426,essv5037567,essv5021994,essv5095836,essv5039612,essv5079291,essv5058964,essv5040406,essv5096754,essv5030772,essv5021138,essv5027457,essv5084328,essv5146659,essv5144065,essv5024108,essv5123076,essv5017332,essv5019727,essv5048317,essv5008849,essv5037760,essv5098055,essv5030387,essv5132756,essv5080865,essv5054059,essv5094810,essv5102792,essv5125345,essv5128437,essv5072970,essv5130528,essv5110166,essv5157006,essv5002999,essv5075234,essv5086014,essv5070553,essv5075073,essv5072037,essv5074373,essv5152392,essv5072067,essv5007503,essv5012961,essv5109088,essv5030913,essv5140347,essv5036548,essv5109258,essv5040328,essv5046748,essv5156813,essv5003922,essv5112366,essv5030042,essv5051017,essv5133688,essv5150465,essv5104802,essv5058624,essv5088695,essv5017379,essv5121029,essv5090795,essv5035883,essv5127846,essv5103379,essv5026844,essv5101426,essv5097921,essv5098012,essv5142856,essv5092816,essv5065791,essv5062035,essv5160797,essv5054318,essv5053715,essv5134440,essv5038258,essv5028001,essv5061412,essv5098315,essv5056651,essv5141602,essv5148048,essv5123097,essv5158152,essv5024519,essv5058603,essv5045814,essv5041804,essv5081157,essv5052108,essv5003961,essv5119235,essv5054964,essv5121456,essv5026768,essv5048396,essv5117383,essv5095343,essv5146549,essv5019407,essv5077378,essv5016121,essv5117045,essv5030908,essv5017890,essv5145356,essv5114344,essv5008007,essv5065233,essv5135695,essv5076075,essv5105050,essv5043135,essv5043100,essv5121078,essv5016987,essv5126766,essv5048039,essv5057304,essv5075339,essv5136757,essv5010821,essv5107122,essv5101825,essv5039926,essv5086531,essv5098036,essv5145780,essv5058411,essv5120827,essv5052392,essv5026223,essv5083100,essv5095375,essv5123032,essv5135140,essv5121681,essv5104214,essv5076373,essv5102689,essv5160566,essv5041116,essv5047063,essv5045172,essv5024133,essv5099314,essv5028085,essv5060546,essv5071124,essv5028804,essv5130948,essv5076471,essv5051979,essv5160425,essv5014810,essv5111478,essv5072259,essv5045959,essv5083668,essv5094626,essv5027419,essv5110435,essv5078545,essv5030657,essv5080701,essv5136108,essv5064258,essv5139716,essv5079835,essv5088205,essv5118820,essv5051893,essv5157609,essv5153278,essv5058107,essv5126792,essv5159156,essv5123196,essv5051919,essv5017049,essv5105512,essv5103322,essv5036337,essv5101186,essv5058801,essv5157311,essv5055357,essv5094689,essv5126598,essv5055429,essv5021274,essv5086846,essv5016117,essv5114829,essv5021954,essv5081843,essv5056012,essv5002555,essv5027231,essv5014551,essv5063794,essv5007779,essv5014180,essv5095772,essv5112594,essv5092468,essv5129159,essv5092744,essv5049316,essv5081270,essv5095894,essv5133449,essv5152305,essv5084521,essv5071772,essv5035947,essv5122630,essv5081263,essv5111201,essv5093717,essv5149295,essv5027775,essv5088408,essv5083755,essv5063672,essv5093740,essv5008648,essv5046536,essv5125865,essv5135969,essv5130485,essv5072329,essv5114395,essv5129041,essv5127811,essv5110120,essv5133460,essv5129083,essv5090458,essv5100613,essv5042364,essv5008000,essv5109059,essv5049633,essv5119616,essv5056674,essv5048138,essv5036913,essv5020880,essv5012630,essv5006182,essv5097100,essv5097885,essv5134195,essv5078646,essv5105478,essv5089151,essv5059149,essv5117997,essv5009030,essv5114338,essv5152363,essv5048413,essv5003158,essv5116575,essv5069245,essv5113041,essv5083511,essv5045122,essv5117115,essv5096519,essv5083861,essv5146796,essv5065875,essv5032435,essv5006951,essv5005212,essv5094424,essv5071137,essv5158666,essv5047555,essv5119346,essv5144538,essv5011869,essv5030388,essv5002754,essv5007838,essv5058264,essv5124285,essv5134811,essv5052461,essv5085115,essv5115933,essv5142022,essv5159889,essv5113019,essv5006519,essv5004085,essv5059805,essv5066867,essv5053053,essv5148464,essv5099089,essv5097008,essv5115772,essv5104217,essv5068855,essv5018347,essv5149250,essv5051004,essv5114280,essv5041786,essv5040865,essv5004154,essv5006744,essv5039821,essv5065761,essv5041587,essv5064028,essv5051739,essv5040075,essv5079599,essv5032473,essv5078527,essv5121490,essv5114037,essv5150313,essv5020555,essv5078659,essv5155086,essv5116817,essv5087089,essv5130675,essv5073684,essv5113457,essv5046246,essv5152014,essv5028561,essv5081176,essv5065490,essv5084771,essv5100179,essv5053913,essv5098226,essv5029256,essv5107685,essv5015131,essv5067082,essv5022960,essv5045942,essv5128315,essv5044837,essv5114781,essv5130594,essv5047898,essv5106194,essv5070821,essv5042625,essv5066756,essv5047562,essv5084421,essv5123887,essv5050835,essv5075151,essv5115411,essv5157378,essv5153800,essv5146134,essv5122596,essv5088681,essv5015446,essv5118836,essv5064411,essv5004468,essv5064968,essv5071800,essv5032394,essv5086298,essv5031356,essv5136415,essv5017794,essv5065940,essv5133655,essv5135041,essv5087014,essv5075006,essv5029931,essv5074418,essv5142604,essv5134308,essv5004444,essv5101859,essv5051143,essv5106735,essv5135370,essv5103286,essv5065977,essv5145900,essv5125312,essv5085965,essv5022653,essv5113280,essv5009826,essv5055998,essv5031413,essv5143110,essv5060560,essv5077558,essv5136324,essv5127120,essv5061190,essv5042300,essv5150991,essv5018177,essv5002576,essv5025494,essv5130303,essv5110538,essv5062523,essv5157375,essv5056267,essv5021931,essv5095692,essv5037942,essv5004579,essv5151985,essv5074168,essv5021911,essv5076493,essv5091264,essv5014326,essv5010067,essv5105240,essv5102184,essv5047270,essv5096648,essv5106448,essv5119844,essv5066068,essv5085695,essv5117452,essv5069410,essv5147413,essv5018074,essv5044467,essv5050900,essv5090873,essv5006977,essv5093977,essv5155913,essv5079342,essv5159643,essv5032830,essv5022740,essv5019224,essv5088822,essv5076785,essv5128838,essv5055362,essv5156413,essv5004735,essv5028380,essv5104607,essv5011659,essv5061722,essv5096642,essv5024993,essv5045095,essv5133764,essv5085304,essv5098068,essv5025020,essv5063353,essv5147835,essv5099226,essv5103415,essv5015676,essv5074466,essv5035199,essv5101502,essv5059015,essv5092490,essv5104436,essv5092788,essv5139551,essv5057110,essv5108762,essv5083014,essv5009673,essv5055587,essv5005847,essv5066838,essv5071290,essv5138727,essv5043721,essv5106778,essv5005544,essv5105910,essv5080108,essv5009440,essv5044898,essv5112506,essv5049622,essv5090798,essv5039355,essv5032469,essv5018174,essv5059549,essv5138642,essv5041169,essv5112549,essv5057016,essv5066540,essv5037484,essv5093178,essv5064110,essv5089240,essv5106741,essv5105808,essv5118129,essv5109355,essv5026732,essv5160036,essv5114019,essv5056874,essv5009199,essv5061673,essv5048257,essv5041980,essv5143686,essv5105480,essv5114680,essv5111876,essv5013009,essv5056144,essv5119957,essv5053255,essv5084910,essv5090637,essv5130759,essv5099069,essv5127738,essv5046634,essv5091838,essv5027238,essv5079526,essv5148716,essv5062068,essv5096160,essv5136215,essv5103771,essv5146488,essv5063859,essv5130484,essv5137608,essv5137317,essv5107317,essv5115989,essv5119277,essv5014507,essv5069984,essv5033589,essv5084379,essv5121588,essv5124305,essv5047004,essv5087882,essv5158627,essv5033120,essv5097936,essv5096769,essv5029426,essv5008791,essv5086652,essv5106798,essv5007786,essv5046901,essv5071444,essv5134265,essv5129917,essv5115978,essv5021628,essv5069059,essv5070319,essv5099962,essv5047460,essv5086003,essv5049144,essv5122188,essv5102014,essv5129387,essv5035516,essv5030022,essv5084952,essv5048297,essv5147205,essv5081290,essv5020252,essv5026459,essv5034553,essv5082948,essv5016348,essv5006490,essv5083720,essv5006486,essv5100525,essv5120699,essv5085767,essv5017352,essv5019386,essv5060750,essv5141584,essv5051338,essv5103961,essv5041206,essv5120412,essv5043975,essv5110707,essv5065850,essv5032089,essv5054679,essv5065477 M 1184 850 0 CROCC NA06984,NA06985,NA06986,NA06991,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07045,NA07051,NA07345,NA07346,NA07347,NA07349,NA07435,NA10835,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10861,NA10863,NA10865,NA11831,NA11832,NA11840,NA11843,NA11891,NA11892,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12154,NA12234,NA12248,NA12264,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12342,NA12344,NA12347,NA12375,NA12383,NA12399,NA12400,NA12413,NA12489,NA12708,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12766,NA12776,NA12778,NA12812,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17974,NA17975,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18144,NA18146,NA18150,NA18152,NA18153,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18610,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18854,NA18855,NA18857,NA18859,NA18860,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18914,NA18916,NA18923,NA18924,NA18925,NA18930,NA18933,NA18935,NA18939,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19038,NA19044,NA19046,NA19054,NA19056,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19094,NA19095,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19114,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19161,NA19172,NA19175,NA19176,NA19179,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19208,NA19209,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19391,NA19393,NA19394,NA19396,NA19398,NA19399,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19451,NA19452,NA19456,NA19457,NA19463,NA19467,NA19468,NA19471,NA19474,NA19625,NA19649,NA19650,NA19651,NA19653,NA19657,NA19658,NA19659,NA19662,NA19663,NA19664,NA19665,NA19675,NA19677,NA19678,NA19680,NA19685,NA19686,NA19703,NA19704,NA19705,NA19708,NA19712,NA19713,NA19714,NA19719,NA19720,NA19721,NA19723,NA19724,NA19726,NA19748,NA19750,NA19751,NA19755,NA19756,NA19759,NA19761,NA19762,NA19770,NA19771,NA19772,NA19773,NA19777,NA19789,NA19794,NA19796,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19914,NA19915,NA19916,NA19917,NA19918,NA19921,NA19982,NA19983,NA20126,NA20129,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20363,NA20502,NA20505,NA20506,NA20508,NA20510,NA20512,NA20517,NA20518,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20534,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20769,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20792,NA20795,NA20796,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20849,NA20851,NA20853,NA20854,NA20856,NA20858,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20883,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20894,NA20906,NA20907,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21102,NA21103,NA21106,NA21108,NA21109,NA21113,NA21115,NA21118,NA21119,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21309,NA21316,NA21318,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21418,NA21421,NA21423,NA21435,NA21436,NA21439,NA21440,NA21441,NA21447,NA21448,NA21451,NA21454,NA21455,NA21457,NA21473,NA21476,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21513,NA21517,NA21520,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21631,NA21632,NA21634,NA21635,NA21648,NA21678,NA21682,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21723,NA21733,NA21738,NA21739,NA21768,NA21776,NA21784,NA21825 nsv834280 1 17087300 17322088 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443684,nssv1443673,nssv1443728,nssv1443741,nssv1443717,nssv1443695,nssv1443706,nssv1443752 M 95 0 8 ATP13A2,CROCC,MFAP2,PADI2,SDHB essv24221 1 17089656 17143724 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CROCC NA12144 nsv437207 1 17089852 17129889 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467088 S 60 0 1 Samples from several populations that are part of the HapMap project. CROCC NA19208 dgv24n67 1 17095279 17145222 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821843,nsv821876,nsv821887 M 31 3 0 CROCC NA18552,NA18566,NA18947 dgv183n71 1 17097851 17153590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871431,nsv871343 M 6533 0 2 CROCC SP53583,SP57410 dgv25n67 1 17102401 17133885 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821865,nsv821854,nsv821898 M 31 3 0 CROCC AK2,NA18537,NA18972 nsv508947 1 17108899 17210197 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619776,nssv623774 M 4 2 0 ATP13A2,CROCC,MFAP2 NA10860,NA18994 dgv184n71 1 17112560 17213465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871043,nsv871503 M 6533 0 2 ATP13A2,CROCC,MFAP2 IS37646,MS17208 nsv482201 1 17121032 17172061 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558562 S 1 1 0 CROCC KB1 nsv437208 1 17121472 17140916 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467089 S 60 0 1 Samples from several populations that are part of the HapMap project. CROCC NA19240 nsv438355 1 17126415 17137953 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469518,nssv469407,nssv469296,nssv469185 M 269 0 4 Samples from several populations that are part of the HapMap project. CROCC NA19207,NA19208,NA19238,NA19240 nsv471438 1 17127282 17153825 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548289,nssv548311,nssv548300 M 3 CROCC dgv185n71 1 17140083 17216866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870461,nsv870569,nsv871088 M 6533 0 6 ATP13A2,CROCC,MFAP2 IS39233,IS39417,MS10311,MS10698,MS10769,SP54956 nsv871590 1 17148404 17182127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510642 S 6533 0 1 CROCC,MFAP2 SP54988 esv2422314 1 17279980 17415709 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161240 S 181 1 0 PADI1,PADI2 ND01703 nsv460662 1 17285088 17358138 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537201 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PADI2 HGDP00896 esv269737 1 17313683 17313918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496597,essv2512606,essv2496873,essv2511845,essv2494255,essv2504098,essv2508968,essv2505310,essv2500978,essv2507211,essv2507295,essv2495578,essv2501405,essv2506546,essv2510812,essv2493548,essv2498908,essv2501826 M 157 18 0 Samples from several populations that are part of the HapMap project. PADI2 NA18486,NA18489,NA18498,NA18499,NA18502,NA18505,NA18522,NA18853,NA18856,NA18870,NA18912,NA18916,NA19093,NA19108,NA19116,NA19137,NA19138,NA19239 esv274605 1 17313692 17313975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580878,essv2579123,essv2579728 M 7 3 0 Samples from several populations that are part of the HapMap project. PADI2 NA19238,NA19239,NA19240 esv2422211 1 17325509 17357086 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161296 S 181 1 0 "" ND03833 esv2627134 1 17364857 17365637 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378317 S 1 1 0 "" NA18507 nsv512720 1 17365270 17366158 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625345 S 1 1 0 "" 1 esv1174577 1 17365301 17365301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070341 S 2 1 0 "" HuRef nsv834291 1 17403404 17549299 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443763,nssv1443774 M 95 2 0 PADI1,PADI3,PADI4 esv1489199 1 17407679 17407679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883314 S 2 1 0 PADI1 HuRef nsv871364 1 17418135 17442536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597263 S 6533 0 1 PADI1 IS40799 nsv470700 1 17424530 17467179 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547713 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PADI1,PADI3 HGDP00298 nsv511680 1 17439160 17441668 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626318 S 1 0 1 PADI1 1 esv1009642 1 17440535 17440822 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578196 S 3 0 1 PADI1 HuRef esv1398963 1 17440584 17440872 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132855 S 2 0 1 PADI1 HuRef nsv508958 1 17443929 17495719 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623775,nssv619777,nssv621083 M 4 3 0 PADI1,PADI3 NA10860,NA15510,NA18994 nsv521814 1 17459240 17464911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694586 S 2026 0 1 PADI3 nsv516116 1 17464911 17486396 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669330,nssv668375,nssv691565,nssv654821,nssv666311 M 2026 5 0 PADI3 nsv4076 1 17482320 17493999 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv955 S 9 1 0 PADI3 NA19240 esv1667289 1 17488383 17488383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808815 S 2 1 0 "" HuRef esv997286 1 17488389 17492015 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565762 S 3 1 0 "" HuRef nsv511142 1 17547408 17553864 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625376 S 1 0 1 PADI4 1 esv33950 1 17548102 17549701 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101586,essv101249,essv95154,essv95433,essv93123,essv95861,essv92812,essv96134,essv96650,essv95937,essv94943,essv96455,essv100231,essv100601,essv96384 M 51 12 3 PADI4 21603,21618,21721,21847,21863,21911,21944,22007,22011,22127,22231,22261,22286,22298,22371 esv21592 1 17548473 17551517 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15492,esv15841,esv16374 M 451 0 14 PADI4 NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA15510 esv4441 1 17548480 17550349 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26882 S 1 0 1 Single Asian sample YH PADI4 YH nsv511681 1 17548587 17550285 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626319 S 1 0 1 PADI4 1 dgv26n67 1 17548925 17549903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821921,nsv821909 M 31 0 10 PADI4 AK10,AK18,AK2,AK6,NA18542,NA18547,NA18582,NA18592,NA18947,NA18951 esv2590404 1 17577359 17578787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203286 S 1 0 1 PADI6 NA18507 esv2214804 1 17578009 17578656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985556 S 1 0 1 PADI6 NA18507 esv2626551 1 17578194 17578505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305827 S 1 0 1 PADI6 NA18507 nsv821932 1 17637086 17639506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426379 S 31 1 0 RCC2 AK6 nsv4187 1 17702531 17736580 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2861 S 9 1 0 "" NA18555 nsv834302 1 17730518 17912534 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443785,nssv1443796 M 95 0 2 ARHGEF10L esv997027 1 17734365 17749665 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564910 S 3 0 0 ARHGEF10L HuRef nsv818089 1 17760550 17775885 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417309 S 112 0 1 ARHGEF10L NA18608 nsv470701 1 17760550 17791187 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547714 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10L HGDP00825 esv988531 1 17761998 17772536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563476 S 3 0 1 ARHGEF10L HuRef nsv460673 1 17765403 17791187 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537212 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10L HGDP00553 nsv870678 1 17768331 17837781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534676 S 6533 0 1 ARHGEF10L MS11726 nsv870973 1 17791187 17904120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530423,nssv1546452 M 6533 0 2 ARHGEF10L MS10311,MS17208 nsv4298 1 17814253 17835256 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8255 S 9 0 1 ARHGEF10L NA12156 nsv518693 1 17871364 17873214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696144 S 2026 0 1 ARHGEF10L nsv512721 1 17887887 17888572 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625346 S 1 1 0 ARHGEF10L 1 nsv508248 1 17936992 18012892 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622757 S 4 0 1 ACTL8 NA18994 nsv518590 1 17946092 17947289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696036 S 2026 0 1 "" nsv161140 1 18096718 18096718 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179718 M 24 "" esv275339 1 18103122 18109206 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585726 S 1250 0 1 "" nsv871819 1 18132050 18177879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582210 S 6533 0 1 "" IS35853 esv269411 1 18143657 18143999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511899,essv2493266,essv2509723,essv2496457,essv2493599,essv2507239,essv2493979,essv2509260,essv2501452,essv2504716,essv2510947,essv2509521 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18504,NA18508,NA18510,NA18517,NA18870,NA18871,NA18909,NA19093,NA19099,NA19116,NA19129 nsv834313 1 18154502 18361688 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443818,nssv1443829,nssv1443807 M 95 0 3 IGSF21 nsv508969 1 18185254 18251218 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623776,nssv619778 M 4 2 0 "" NA10860,NA18994 esv269972 1 18203950 18204379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493973,essv2496899 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA19190 nsv521926 1 18221371 18284968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694696 S 2026 0 1 "" nsv526833 1 18247527 18250377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703190 S 2026 0 1 "" nsv834324 1 18373494 18553921 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443840 S 95 1 0 IGSF21 nsv4409 1 18379584 18412953 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8323 S 9 1 0 IGSF21 NA12156 nsv460684 1 18416371 18430332 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537223 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGSF21 HGDP00554 nsv4520 1 18434506 18469664 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3912 S 9 1 0 IGSF21 NA12878 nsv528445 1 18451625 18473411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705040 S 2026 0 1 IGSF21 nsv834336 1 18499440 18685787 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443852 S 95 0 1 IGSF21,KLHDC7A nsv870620 1 18499504 18640598 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558416 S 6533 1 0 IGSF21 MS23257 nsv4631 1 18502088 18534847 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6396 S 9 1 0 IGSF21 NA12156 esv994039 1 18529669 18529764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570521 S 3 0 1 IGSF21 HuRef nsv4743 1 18575182 18620397 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8453 S 9 0 1 IGSF21 NA12156 esv259461 1 18665021 18665298 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394181,essv2393959 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv995072 1 18665125 18665125 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567950 S 3 1 0 "" HuRef nsv160887 1 18665127 18665127 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179465 M 24 "" esv1135568 1 18665188 18665188 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108538 S 2 1 0 "" HuRef nsv159998 1 18665196 18665196 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178576 M 24 "" esv275146 1 18672834 18679704 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585623 S 1250 0 1 "" nsv871296 1 18684763 18852461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552651 S 6533 1 0 KLHDC7A,PAX7 MS19571 nsv518311 1 18685613 18686032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695742 S 2026 0 1 "" nsv4854 1 18745518 18791168 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6404 S 9 0 1 "" NA12156 nsv460706 1 18766179 18781452 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537241 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01278 esv1600907 1 18797221 18797291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315808 S 2 0 1 "" HuRef nsv4965 1 18804399 18837973 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5358 S 9 1 0 PAX7 NA19129 nsv5076 1 18858189 18902861 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8574 S 9 0 1 PAX7 NA12156 nsv506920 1 18868065 18874065 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619225 S 4 1 0 PAX7 NA10860 nsv870794 1 18872418 18961005 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552652 S 6533 1 0 PAX7 MS19571 esv2599950 1 18925076 18925227 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276923 S 1 0 1 PAX7 NA18507 esv1070523 1 18943551 18943551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207695 S 2 1 0 PAX7 HuRef nsv5187 1 18954665 18999571 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8645 S 9 0 1 "" NA12156 nsv870906 1 18998786 19080818 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552653 S 6533 1 0 ALDH4A1,TAS1R2 MS19571 esv2589469 1 19023733 19025210 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385528 S 1 0 1 "" NA18507 esv3876 1 19024338 19024992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26317 S 1 0 1 Single Asian sample YH "" YH nsv834347 1 19115358 19341509 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443863 S 95 1 0 IFFO2,UBR4 nsv512722 1 19125008 19125494 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625347 S 1 1 0 IFFO2 1 esv26882 1 19198813 19201050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16565 S 451 0 1 "" NA18858 esv21929 1 19228238 19232463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16928 S 451 0 1 "" NA19257 nsv5298 1 19237962 19275195 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2867,nssv5363,nssv3923 M 9 3 0 UBR4 NA12878,NA18555,NA19129 nsv508980 1 19241429 19296838 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621084 S 4 1 0 UBR4 NA15510 esv1963532 1 19259049 19259392 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528609 S 1 0 1 "" NA18507 esv29322 1 19259249 19259959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11291 S 451 0 2 "" NA12006,NA19225 nsv512723 1 19260386 19260504 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625348 S 1 1 0 "" 1 nsv470702 1 19415518 19452556 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547715 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA0090,MRTO4 HGDP01179 nsv871933 1 19441559 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585787 S 6533 0 1 AKR7A2,AKR7A3,AKR7L,CAPZB,KIAA0090,LOC100506730,MRTO4,PQLC2 IS37646 esv26443 1 19472219 19487114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11560 S 451 0 2 AKR7A3,AKR7L NA18523,NA18858 nsv871934 1 19500463 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543356,nssv1584765,nssv1592098 M 6533 0 3 AKR7A2,CAPZB,PQLC2 IS37172,IS39233,MS16153 dgv186n71 1 19514913 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870883,nsv870761 M 6533 0 2 CAPZB,PQLC2 MS10311,MS22103 esv2547343 1 19519310 19521534 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328741 S 1 0 1 PQLC2 NA18507 nsv871443 1 19531936 19559524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555759 S 6533 0 1 CAPZB MS21536 nsv834358 1 19600452 19778614 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443874 S 95 0 1 CAPZB nsv5409 1 19603885 19608461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1934 S 9 1 0 CAPZB NA18555 esv2398290 1 19633847 19634376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666927 S 1 0 1 CAPZB NA18507 esv3747 1 19633947 19634251 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26188 S 1 0 1 Single Asian sample YH CAPZB YH nsv471771 1 19633977 19634198 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646052 M 1.068 95 CAPZB esv6224 1 19634011 19634196 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28665 S 1 0 1 CAPZB SJK nsv470703 1 19722243 19776798 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547716 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01049 nsv508991 1 19766655 19904991 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621085 S 4 1 0 C1orf151,C1orf15-NBL1,HTR6,NBL1,TMCO4 NA15510 esv273533 1 19770839 19771087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580093,essv2580490,essv2579901 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1007512 1 19802816 19819397 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565353 S 3 0 0 C1orf151,C1orf15-NBL1 HuRef nsv159533 1 19827465 19827530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178111 M 24 C1orf151,C1orf15-NBL1 esv2395760 1 19841881 19842314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876743 S 1 0 1 C1orf15-NBL1,NBL1 NA18507 esv7640 1 19841988 19842043 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30081 S 1 1 0 C1orf15-NBL1 SJK dgv187n71 1 19851482 19868078 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870605,nsv871844 M 6533 0 2 C1orf15-NBL1,HTR6,NBL1 SP54672,SP54956 nsv870984 1 19903735 20055929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558417 S 6533 1 0 RNF186,TMCO4 MS23257 esv22015 1 19963063 19964549 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11329 S 451 0 1 TMCO4 NA18861 nsv460717 1 20109318 20123386 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537249 S 1557 0 1 OTUD3,PLA2G2E NINDS_168 esv269632 1 20129651 20129993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576017,essv2571726,essv2546564,essv2576724,essv2535007,essv2547441,essv2530664,essv2562125,essv2537444,essv2528311,essv2522271,essv2570011,essv2563583,essv2572459,essv2566463,essv2536323,essv2524981 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11830,NA11840,NA11881,NA12154,NA12249,NA12717,NA12873,NA12874,NA12878,NA12891,NA18571,NA18593,NA18603,NA18609,NA18948 esv272247 1 20129651 20129993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582203,essv2582686 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2564092 1 20131192 20132300 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284149 S 1 1 0 "" NA18507 nsv871115 1 20141756 20188186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558418 S 6533 1 0 PLA2G2A MS23257 nsv527818 1 20178474 20252732 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704313 S 2026 1 0 PLA2G2A nsv5520 1 20270133 20315058 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5380 S 9 0 1 PLA2G2D,PLA2G5 NA19129 esv2435763 1 20278935 20283694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290042 S 1 0 1 PLA2G5 NA18507 esv2164449 1 20279549 20283386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803624 S 1 0 1 PLA2G5 NA18507 esv25446 1 20279685 20283259 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21099 S 451 0 3 PLA2G5 NA18517,NA19129,NA19190 nsv519515 1 20280768 20281961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674889,nssv693891,nssv656533,nssv689562 M 2026 0 4 PLA2G5 esv1003821 1 20303656 20315565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564297 S 3 0 1 PLA2G2D HuRef esv2606339 1 20369396 20370758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295790 S 1 0 1 PLA2G2C NA18507 esv2380061 1 20369588 20370508 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621106 S 1 0 1 PLA2G2C NA18507 esv26523 1 20369816 20370376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11635 S 451 0 1 PLA2G2C NA18858 esv26309 1 20371591 20373385 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10552 S 451 0 1 PLA2G2C NA18505 esv1000843 1 20414216 20418043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565754 S 3 0 1 "" HuRef nsv818100 1 20473599 20477546 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417739 S 112 0 1 "" NA19003 esv24128 1 20487218 20488654 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16821 S 451 1 0 "" NA11993 nsv871750 1 20525385 20590350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561150 S 6533 1 0 LOC339505,VWA5B1 MS24867 nsv5631 1 20537419 20580213 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5386,nssv3933 M 9 2 0 LOC339505,VWA5B1 NA12878,NA19129 nsv871486 1 20556533 20590350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542209 S 6533 1 0 LOC339505 MS15709 esv2513498 1 20581164 20582087 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214092 S 1 1 0 LOC339505 NA18507 esv2560487 1 20662449 20662898 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314979 S 1 1 0 "" NA18507 nsv512724 1 20662569 20662675 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625349 S 1 1 0 "" 1 nsv821943 1 20678598 20691234 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426380 S 31 1 0 CAMK2N1 AK6 nsv460729 1 20766552 20791499 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537251 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDA HGDP00552 esv2750602 1 20786879 20787704 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95034 S 51 0 1 "" 22231 nsv528156 1 20788288 20807383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704704 S 2026 0 1 CDA esv998962 1 20797976 20803754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565384 S 3 0 1 CDA HuRef nsv511682 1 20804213 20805394 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626320 S 1 0 1 CDA 1 esv24339 1 20805104 20806231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19697 S 451 0 1 CDA NA18517 nsv834369 1 20808850 20978917 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443896,nssv1443885 M 95 0 2 CDA,DDOST,HP1BP3,KIF17,PINK1,SH2D5 esv270154 1 20817302 20817656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516723,essv2516990,essv2518821,essv2518495,essv2516305,essv2515659 M 157 6 0 Samples from several populations that are part of the HapMap project. CDA NA11881,NA11931,NA12045,NA12287,NA12814,NA12815 esv2633764 1 20822484 20822872 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230908 S 1 1 0 "" NA18507 nsv870827 1 20823946 21209900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558419 S 6533 1 0 DDOST,EIF4G3,HP1BP3,KIF17,PINK1,SH2D5 MS23257 esv2499678 1 20824410 20826003 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192304 S 1 0 1 "" NA18507 esv3920 1 20824849 20825365 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26361 S 1 0 1 Single Asian sample YH "" YH esv1075995 1 20825075 20825255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629701 S 2 0 1 "" HuRef nsv522796 1 20867539 20875313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698440 S 2026 0 1 KIF17 nsv520013 1 20883769 20927313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697177 S 2026 0 1 KIF17,SH2D5 nsv870993 1 20899548 20927313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510643 S 6533 0 1 KIF17,SH2D5 SP54988 dgv188n71 1 20908165 20927313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871506,nsv871790 M 6533 0 2 KIF17,SH2D5 SP54043,SP54725 nsv871858 1 20948045 21328502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545849 S 6533 0 1 EIF4G3,HP1BP3 MS16986 nsv5742 1 20957474 20992598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3942 S 9 1 0 HP1BP3 NA12878 esv1356855 1 21015136 21015578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611504 S 2 0 1 EIF4G3 HuRef nsv834380 1 21271857 21447028 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443907 S 95 1 0 ECE1,EIF4G3 nsv160811 1 21300656 21303960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179389 M 24 EIF4G3 esv1007787 1 21357379 21359034 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565532 S 3 1 0 EIF4G3 HuRef nsv871876 1 21380475 21455898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589066 S 6533 0 1 ECE1 IS38293 nsv870456 1 21380475 21839420 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555703 S 6533 1 0 ALPL,ECE1,LOC100506801,NBPF3,RAP1GAP MS21517 esv1000397 1 21393754 21412491 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565165 S 3 0 0 "" HuRef nsv871179 1 21406824 21418169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508891 S 6533 0 1 ECE1 SP54726 esv1387368 1 21409684 21410106 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804670 S 2 0 1 "" HuRef esv1006358 1 21446403 21458931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564803 S 3 0 1 ECE1 HuRef esv2109865 1 21499905 21500323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765838 S 1 0 1 ECE1 NA18507 nsv515620 1 21529749 21529826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656270,nssv664134 M 2026 0 2 ECE1 esv23912 1 21531415 21532035 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14361 S 451 0 1 ECE1 NA19225 esv34155 1 21566164 22039203 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ALPL,HSPG2,LDLRAD2,NBPF3,RAP1GAP,USP48 esv26055 1 21570077 21687749 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11019,esv14172,esv14152 M 451 8 0 NBPF3 NA15510,NA18502,NA18511,NA18523,NA18907,NA18909,NA18916,NA19225 nsv820559 1 21608059 21687749 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420269 S 1 1 0 NBPF3 NA10851 dgv42e1 1 21608771 21815001 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11654,esv191,essv11511 M 271 0 0 ALPL,NBPF3,RAP1GAP NA19154,NA19173 nsv428432 1 21608771 21815001 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454598,nssv454554,nssv454620,nssv454565,nssv454609,nssv454587,nssv454576 M 62 7 0 ALPL,NBPF3,RAP1GAP HGDP00460,HGDP00463,HGDP00472,HGDP01093,HGDP01094,NA18916,NA19096 nsv9435 1 21610330 21672782 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15120,nssv16109,nssv14412 M 31 2 1 Samples from several populations that are part of the HapMap project. NBPF3 NA18502,NA19173,NA19221 esv7069 1 21627030 21678937 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29510 S 1 0 0 NBPF3 SJK esv989724 1 21659005 21659276 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569889 S 3 0 1 NBPF3 HuRef esv2456631 1 21659007 21659278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375893 S 1 0 1 NBPF3 NA18507 esv1311289 1 21659007 21659279 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347116 S 2 0 1 NBPF3 HuRef esv2195718 1 21660138 21660586 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650166 S 1 0 1 NBPF3 NA18507 esv1213372 1 21660332 21660396 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769496 S 2 0 1 NBPF3 HuRef nsv160214 1 21660333 21660396 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178792 M 24 NBPF3 nsv527108 1 21695879 21699153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703488 S 2026 0 1 "" nsv834391 1 21722520 21923069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443918,nssv1443951,nssv1443940,nssv1443929,nssv1443963 M 95 0 5 ALPL,RAP1GAP,USP48 esv1457635 1 21726126 21726126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639911 S 2 1 0 ALPL HuRef nsv517096 1 21736278 21869435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678465,nssv657650,nssv676837,nssv667702,nssv699191,nssv678892,nssv705217,nssv671036,nssv682311,nssv682220,nssv652854,nssv674071,nssv651804,nssv679211,nssv658962,nssv695226,nssv674624,nssv683155,nssv653597,nssv661510,nssv667278 M 2026 0 21 ALPL,RAP1GAP dgv189n71 1 21736793 21869435 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871284,nsv871562 M 6533 0 2 ALPL,RAP1GAP MS10311,MS17208 dgv190n71 1 21755407 21783477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870545,nsv870469 M 6533 0 2 ALPL IS30127,IS40799 nsv871612 1 21755407 21810962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573734,nssv1578375 M 6533 0 2 ALPL,RAP1GAP IS33504,IS34768 nsv460740 1 21762093 21772078 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537258 S 1557 0 1 ALPL NINDS_181 nsv871706 1 21774044 21826023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593367 S 6533 0 1 ALPL,RAP1GAP IS39417 nsv508359 1 21777461 21853278 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622758 S 4 0 1 ALPL,RAP1GAP NA18994 nsv509002 1 21777461 21853278 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619779 S 4 1 0 ALPL,RAP1GAP NA10860 dgv191n71 1 21780191 21820307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871398,nsv871444 M 6533 0 2 RAP1GAP IS39233,MS13770 nsv470704 1 21789821 21810961 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547717 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAP1GAP HGDP00599 nsv871036 1 21789821 21839420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543357 S 6533 0 1 RAP1GAP MS16153 dgv192n71 1 21794323 21826023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870875,nsv871914 M 6533 0 2 RAP1GAP IS37172,MS18276 nsv870959 1 21800435 21869435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570675 S 6533 0 1 RAP1GAP IS32322 esv1002267 1 21807902 21817453 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564498 S 3 0 1 RAP1GAP HuRef nsv871675 1 21808292 21856198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574991 S 6533 0 1 RAP1GAP IS33684 nsv460751 1 21831123 21861209 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537263 S 1557 0 1 RAP1GAP 1780854065_A nsv870764 1 21842876 21879308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573735 S 6533 0 1 RAP1GAP,USP48 IS33504 nsv5854 1 21875736 21910696 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3954 S 9 1 0 USP48 NA12878 nsv5965 1 21913545 21944069 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6413 S 9 1 0 USP48 NA12156 nsv508470 1 21915252 22003696 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622759 S 4 0 1 USP48 NA18994 nsv871274 1 21961428 22122176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530426 S 6533 0 1 HSPG2,LDLRAD2,USP48 MS10311 nsv515659 1 21998916 22137880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687314,nssv705427,nssv705759,nssv704109,nssv663807,nssv695098,nssv669540,nssv664272,nssv669785 M 2026 0 9 HSPG2,LDLRAD2 nsv9546 1 22001165 22010558 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17753 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv509013 1 22003696 22174188 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621086 S 4 1 0 HSPG2,LDLRAD2 NA15510 dgv193n71 1 22004123 22057139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870689,nsv870870,nsv870579,nsv871897,nsv871386 M 6533 0 6 HSPG2,LDLRAD2 IS32841,IS37172,IS39233,IS40230,MS13095,MS16315 dgv194n71 1 22004123 22088866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870980,nsv871831,nsv870861 M 6533 0 4 HSPG2,LDLRAD2 MS10123,MS10769,MS16153,MS18276 esv33753 1 22004531 22009931 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93649 S 51 0 1 "" 21972 nsv834402 1 22007819 22195709 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443985,nssv1443996,nssv1443974 M 95 0 3 CELA3B,HSPG2,LDLRAD2 esv33407 1 22011685 22011805 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95073,essv94051,essv94306,essv97064,essv97380,essv95849,essv97131,essv99600,essv94942,essv99343,essv100572 M 51 11 0 LDLRAD2 21721,21802,21808,21817,21879,21911,22075,22217,22231,22275,22298 nsv460762 1 22014570 22057139 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537273 S 1557 0 1 HSPG2,LDLRAD2 NINDS_70 nsv870552 1 22014570 22193698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546454 S 6533 0 1 CELA3B,HSPG2,LDLRAD2 MS17208 nsv469549 1 22014652 22219090 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649660 M 265 0 3 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B,HSPG2,LDLRAD2 esv1196174 1 22017235 22017370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606269 S 2 0 1 LDLRAD2 HuRef nsv470706 1 22019664 22200865 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547718,nssv547719 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CELA3A,CELA3B,HSPG2,LDLRAD2 HGDP00546,HGDP00550 nsv871433 1 22030950 22088866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538568 S 6533 0 1 HSPG2 MS13770 nsv460784 1 22057139 22088866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537294 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSPG2 HGDP00857 esv1003020 1 22063120 22084921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564134 S 3 0 1 HSPG2 HuRef dgv43e1 1 22095108 22285444 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18229,esv180 M 271 0 0 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 NA12057 nsv834413 1 22107800 22292761 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444007,nssv1444018,nssv1444040,nssv1444029 M 95 0 4 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 nsv460795 1 22122176 22157082 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537305 S 1557 0 1 HSPG2 NINDS_74 esv1468707 1 22158993 22159043 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697282 S 2 0 1 "" HuRef nsv871504 1 22165643 22193698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511918 S 6533 1 0 CELA3B SP55174 esv24116 1 22166472 22214926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9848,esv12969 M 451 0 3 CELA3A,CELA3B NA18861,NA18907,NA19257 nsv436921 1 22172760 22190556 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465918 S 2 1 0 Samples from several populations that are part of the HapMap project. CELA3B NA18505 esv7729 1 22180317 22204950 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30170 S 1 0 1 CELA3A,CELA3B SJK nsv9657 1 22182113 22215918 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12446,nssv18083 M 31 0 2 Samples from several populations that are part of the HapMap project. CELA3A,CELA3B NA18972,NA19007 dgv27n67 1 22188645 22216691 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821954,nsv821965 M 31 0 2 CELA3A NA18570,NA18972 nsv441686 1 22193098 22209830 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CELA3A esv2422105 1 22193102 22203126 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5099187,essv5160488,essv5144788,essv5025821,essv5139034,essv5005963,essv5090968,essv5130100,essv5007855,essv5079332,essv5120929,essv5048433,essv5101041,essv5122800,essv5004304,essv5012703,essv5069649,essv5152666,essv5060991,essv5089636,essv5137057,essv5140524,essv5049931,essv5131129,essv5079181,essv5122038,essv5052234,essv5031926,essv5068701,essv5126066,essv5009703,essv5026382,essv5150276,essv5029182,essv5098002,essv5052611,essv5160782,essv5093683,essv5107178,essv5127796,essv5039091,essv5062103,essv5086958,essv5151805,essv5089331,essv5012250,essv5057648,essv5073331,essv5051602,essv5094720,essv5122426,essv5069364,essv5021959,essv5087547,essv5039080,essv5013711,essv5092401,essv5136010,essv5082060,essv5112361,essv5013849,essv5135997,essv5027369,essv5047107,essv5118566,essv5153959,essv5013797,essv5079757,essv5109676,essv5114201,essv5014076,essv5004960,essv5092266,essv5051720,essv5116678,essv5047066,essv5072556,essv5035309,essv5057717,essv5010298,essv5087741,essv5040269,essv5139157,essv5010859,essv5067557,essv5048403,essv5156755,essv5048628,essv5127647,essv5066006,essv5098330,essv5106182,essv5160939,essv5030225,essv5008724,essv5060599,essv5082807,essv5092467,essv5048896,essv5117747,essv5097180,essv5040804,essv5155528,essv5099755 M 1184 0 104 CELA3A NA06986,NA10852,NA12057,NA17970,NA17976,NA17979,NA17998,NA18108,NA18109,NA18135,NA18146,NA18147,NA18161,NA18498,NA18529,NA18545,NA18570,NA18615,NA18616,NA18617,NA18628,NA18645,NA18647,NA18861,NA18863,NA18910,NA18911,NA18923,NA18925,NA18948,NA18949,NA18970,NA18972,NA18977,NA18979,NA18981,NA18991,NA18994,NA19005,NA19007,NA19070,NA19085,NA19086,NA19153,NA19154,NA19171,NA19184,NA19186,NA19248,NA19249,NA19257,NA19258,NA19313,NA19315,NA19317,NA19319,NA19334,NA19372,NA19396,NA19397,NA19440,NA19445,NA19446,NA19452,NA19457,NA19462,NA19467,NA19473,NA19750,NA19834,NA20126,NA20128,NA20282,NA20284,NA20333,NA20334,NA20335,NA20336,NA20540,NA20544,NA20774,NA20806,NA20818,NA20891,NA20900,NA20909,NA20910,NA21107,NA21295,NA21333,NA21378,NA21390,NA21424,NA21473,NA21520,NA21597,NA21599,NA21601,NA21613,NA21614,NA21717,NA21733,NA21739,NA21776 nsv528664 1 22200866 22261914 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705302 S 2026 1 0 CDC42,CELA3A,LINC00339 nsv871778 1 22229804 22364571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558420 S 6533 1 0 CDC42,LINC00339,WNT4 MS23257 nsv6076 1 22288886 22322991 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2871 S 9 1 0 CDC42,WNT4 NA18555 nsv460806 1 22324432 22385434 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537310 S 1557 0 1 WNT4 1780862415_A nsv517086 1 22372117 22385434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653762,nssv664021,nssv663458,nssv676101,nssv682668,nssv677352,nssv682790,nssv661058,nssv656347,nssv665257,nssv669739,nssv684635,nssv683851,nssv663876,nssv687280,nssv653181,nssv679575,nssv671842,nssv671692,nssv666144,nssv664643 M 2026 0 21 "" esv2421859 1 22372815 22381838 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5106782,essv5142667,essv5007542,essv5117300,essv5046500,essv5143680,essv5066431,essv5119150,essv5095704,essv5054217,essv5081713,essv5063248,essv5016642,essv5025384,essv5114057,essv5155133,essv5026109,essv5060034,essv5054726,essv5095750,essv5102934,essv5009562,essv5139059,essv5138053,essv5062450,essv5023611,essv5006220,essv5147501,essv5112577,essv5043047 M 1184 0 30 "" NA18497,NA18855,NA18857,NA18868,NA18869,NA18933,NA18935,NA19107,NA19109,NA19113,NA19122,NA19247,NA19249,NA19379,NA19438,NA19451,NA19466,NA19713,NA19983,NA20336,NA20337,NA20341,NA20342,NA20348,NA21360,NA21361,NA21400,NA21401,NA21587,NA21650 esv2585230 1 22398305 22399741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282711 S 1 0 1 "" NA18507 nsv871529 1 22406195 22470644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530427 S 6533 0 1 "" MS10311 nsv522370 1 22428580 22464043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695150 S 2026 0 1 "" dgv195n71 1 22437958 22489565 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871707,nsv871660 M 6533 0 2 "" MS13770,MS20042 nsv516575 1 22461580 22470644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674738,nssv669268 M 2026 0 2 "" nsv522775 1 22472660 22472754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698416 S 2026 0 1 "" nsv159512 1 22472667 22481250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178090 M 24 "" nsv528939 1 22472754 22480144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705630 S 2026 0 1 "" nsv520015 1 22547808 22555617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697178 S 2026 0 1 "" nsv159392 1 22552144 22552282 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177970 M 24 "" nsv6187 1 22588151 22608508 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3965 S 9 0 1 "" NA12878 nsv6298 1 22705095 22750151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8765 S 9 0 1 ZBTB40 NA12156 nsv506921 1 22707136 22713136 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619226,nssv620646,nssv623263 M 4 3 0 ZBTB40 NA10860,NA15510,NA18994 nsv819803 1 22728268 22728572 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418549 S 2 1 0 ZBTB40 AK1 nsv509024 1 22736070 22780823 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619780 S 4 1 0 EPHA8 NA10860 nsv871044 1 22736580 22888593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546455 S 6533 0 1 C1QA,C1QB,C1QC,EPHA8 MS17208 nsv870779 1 22750400 22805640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530428 S 6533 0 1 EPHA8 MS10311 esv27002 1 22759112 22760850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17180 S 451 0 1 "" NA18858 esv26050 1 22761762 22763766 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12203,esv13267 M 451 3 0 EPHA8 NA06985,NA12044,NA18861 esv259650 1 22769411 22769706 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394098,essv2393757,essv2393972,essv2394312 M 6 0 0 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA19238,NA19239,NA19240 esv259678 1 22769428 22769723 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397318,essv2395644,essv2397697,essv2399248,essv2394967,essv2399320,essv2394691,essv2395351,essv2395475,essv2400819,essv2397760,essv2394577,essv2398310,essv2395189,essv2399764,essv2397261,essv2395989,essv2397081,essv2400524,essv2394519 M 144 0 0 Samples from several populations that are part of the HapMap project. EPHA8 NA12878,NA18501,NA18502,NA18508,NA18511,NA18522,NA18870,NA18916,NA18948,NA18952,NA18956,NA18965,NA19093,NA19108,NA19129,NA19225,NA19238,NA19239,NA19240,NA19257 esv994542 1 22773973 22779231 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565422 S 3 1 0 EPHA8 HuRef esv3577 1 22776903 22777261 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26018 S 1 0 1 Single Asian sample YH EPHA8 YH nsv820259 1 22776986 22777082 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418885 S 2 1 0 EPHA8 AK1 esv1707275 1 22777074 22777074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714244 S 2 1 0 EPHA8 HuRef nsv160591 1 22777075 22778172 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179169 M 24 EPHA8 esv4502 1 22777998 22778245 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26943 S 1 0 1 Single Asian sample YH EPHA8 YH esv34161 1 22798842 23016810 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684 esv1510090 1 22858408 22858470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329170 S 2 0 1 C1QB HuRef nsv870805 1 22929777 22996176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558421 S 6533 1 0 EPHB2 MS23257 esv2538911 1 22953450 22954195 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338263 S 1 1 0 EPHB2 NA18507 nsv512725 1 22953875 22954105 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625350 S 1 1 0 EPHB2 1 nsv469829 1 22954609 23135997 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649850 M 265 0 4 Samples from several populations that are part of the HapMap project. EPHB2,MIR4253 nsv871487 1 22971569 23042090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529780 S 6533 0 1 EPHB2 MS10123 nsv870618 1 22978800 23015083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530429 S 6533 0 1 EPHB2 MS10311 nsv509036 1 22979219 23058578 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619781 S 4 1 0 EPHB2 NA10860 esv1389294 1 23002726 23002776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987352 S 2 0 1 EPHB2 HuRef nsv528926 1 23061710 23079271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705616 S 2026 0 1 EPHB2,MIR4253 nsv6409 1 23097385 23129238 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1954 S 9 1 0 EPHB2 NA18555 esv2504682 1 23149050 23149979 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188949 S 1 1 0 "" NA18507 esv1485438 1 23149534 23149534 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125835 S 2 1 0 "" HuRef nsv819213 1 23183977 23211560 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418711 S 2 0 1 LOC729059 AK1 nsv871851 1 23245358 23275735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507176 S 6533 0 1 KDM1A SP54490 nsv6520 1 23276956 23295633 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5396 S 9 1 0 KDM1A,LUZP1 NA19129 nsv819728 1 23317319 23321760 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419637 S 2 0 1 LUZP1 AK1 nsv834424 1 23331991 23475289 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444051 S 95 0 1 HTR1D,LUZP1 nsv871587 1 23359564 23383437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509730 S 6533 0 1 LUZP1 SP54956 nsv821976 1 23367288 23368997 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429554 S 31 1 0 LUZP1 AK14 nsv6631 1 23466481 23485360 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3974,nssv9804,nssv6423,nssv10760,nssv5405,nssv964,nssv1966 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509047 1 23470552 23489158 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621087,nssv617990,nssv619782,nssv623777 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1003688 1 23475723 23476851 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564590 S 3 1 0 "" HuRef nsv525446 1 23568739 23573899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701574 S 2026 1 0 C1orf213,ZNF436 nsv521882 1 23583062 23587252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694653 S 2026 0 1 TCEA3 nsv512726 1 23591356 23591714 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625351 S 1 1 0 TCEA3 1 esv2558689 1 23591446 23591647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285756 S 1 0 1 TCEA3 NA18507 esv9540 1 23591541 23591722 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31981 S 1 0 1 TCEA3 SJK dgv28n67 1 23609069 23610338 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821987,nsv821998 M 31 0 7 TCEA3 AK16,AK18,AK4,NA18547,NA18582,NA18592,NA18999 nsv834435 1 23672049 23850518 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444062,nssv1444074 M 95 0 2 ASAP3,E2F2,ID3,MDS2 nsv819574 1 23682227 23683902 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419305 S 2 1 0 ASAP3 AK1 esv1790599 1 23694331 23694331 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794850 S 2 1 0 "" HuRef nsv871598 1 23748227 23767741 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509731 S 6533 0 1 ID3 SP54956 nsv160295 1 23763647 23767838 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178873 M 24 "" nsv460840 1 23809848 23860948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537340 S 1557 0 1 MDS2 1780862162_A esv275297 1 23830358 23833443 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585424 S 1250 0 1 MDS2 esv267772 1 23853687 23854029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517452,essv2514749,essv2515366,essv2518492,essv2517801,essv2516280,essv2516872,essv2513639 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11918,NA12234,NA12249,NA12287,NA12878,NA12891,NA12892 esv273330 1 23853694 23854026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581763,essv2582338,essv2582886 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv160080 1 23876065 23879493 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178658 M 24 "" esv1587089 1 24036505 24036505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060701 S 2 1 0 "" HuRef esv29329 1 24072733 24073978 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12811,esv15695 M 451 0 15 CNR2 NA11894,NA11931,NA11993,NA12004,NA12749,NA12878,NA18505,NA18511,NA18517,NA18861,NA18907,NA18909,NA19147,NA19190,NA19225 dgv29n67 1 24073049 24073899 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822020,nsv822043,nsv822032,nsv822009 M 31 0 5 CNR2 AK2,AK6,NA18947,NA18951,NA18972 esv991485 1 24081324 24087471 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563891 S 3 1 0 CNR2 HuRef nsv512727 1 24082950 24083431 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625352 S 1 1 0 CNR2 1 esv1663042 1 24083423 24083423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228988 S 2 1 0 CNR2 HuRef nsv6742 1 24126500 24159968 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2882 S 9 1 0 MIR378F,PNRC2 NA18555 nsv511683 1 24191456 24194778 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626322 S 1 0 1 "" 1 esv270413 1 24201324 24201409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517153 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv2609872 1 24275040 24276823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352209 S 1 0 1 MYOM3 NA18507 esv1968924 1 24275390 24276076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552184 S 1 0 1 MYOM3 NA18507 esv989974 1 24275574 24275890 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571507 S 3 0 1 MYOM3 HuRef esv1250620 1 24275590 24275907 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762899 S 2 0 1 MYOM3 HuRef esv5851 1 24275599 24275891 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28292 S 1 0 1 MYOM3 SJK nsv822054 1 24280927 24281558 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431798 S 31 0 1 MYOM3 AK20 nsv506922 1 24347155 24353155 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619227,nssv623264,nssv617526,nssv620647 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv506923 1 24364233 24370233 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619228,nssv620649,nssv623265,nssv617527 M 4 4 0 IL28RA CHM,NA10860,NA15510,NA18994 nsv6853 1 24364700 24398808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8821 S 9 1 0 IL28RA NA12156 esv29789 1 24392931 24396291 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14913 S 451 0 7 "" NA07037,NA07045,NA11993,NA12004,NA12044,NA12414,NA12749 dgv30n67 1 24393400 24395993 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822065,nsv822076,nsv822087 M 31 0 14 "" AK12,AK14,AK18,AK20,AK6,AK8,NA18542,NA18547,NA18570,NA18592,NA18942,NA18951,NA18969,NA18973 dgv196n71 1 24399682 24550859 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871102,nsv871580 M 6533 2 0 GRHL3,LOC284632 MS23257,SP55010 nsv822098 1 24428586 24429374 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434162 S 31 0 1 "" NA18570 dgv197n71 1 24447932 24512901 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871048,nsv871751 M 6533 2 0 "" SP52428,SP55100 nsv469575 1 24452284 24648983 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649688 M 265 0 0 Samples from several populations that are part of the HapMap project. C1orf201,GRHL3,NIPAL3 esv1964436 1 24464970 24465349 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922131 S 1 0 1 "" NA18507 nsv834447 1 24522170 24677795 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444085 S 95 0 1 C1orf201,GRHL3,NIPAL3 esv1739869 1 24544150 24544150 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074743 S 2 1 0 GRHL3 HuRef esv1745617 1 24544352 24544352 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185921 S 2 1 0 GRHL3 HuRef esv994910 1 24647483 24651098 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565699 S 3 1 0 NIPAL3 HuRef nsv6965 1 24667583 24687729 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1967 S 9 0 1 NIPAL3 NA18555 esv23193 1 24676884 24680227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9733,esv19100 M 451 0 4 "" NA11931,NA11993,NA12489,NA12749 nsv498665 1 24677123 24680037 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585415 S 9 0 1 "" nsv822109 1 24678281 24679447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431800 S 31 0 1 "" AK20 dgv31n67 1 24678281 24680509 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822120,nsv822131 M 31 0 6 "" AK16,NA18537,NA18547,NA18582,NA18949,NA18969 nsv513983 1 24678480 24679292 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627736 S 1414 0 1 "" esv1298380 1 24694156 24694156 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759955 S 2 1 0 "" HuRef nsv436645 1 24768045 24774830 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465929 S 2 0 1 Samples from several populations that are part of the HapMap project. C1orf130 NA18505 esv27046 1 24768383 24773731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13814 S 451 0 3 C1orf130 NA18505,NA18508,NA18511 nsv834458 1 24776906 24868722 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444096 S 95 0 1 C1orf130,SRRM1 esv1961948 1 24801192 24801860 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674738 S 1 0 1 C1orf130 NA18507 esv2560351 1 24813235 24814028 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277621 S 1 1 0 "" NA18507 esv270489 1 24813830 24814180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516951,essv2518511,essv2517906,essv2516078,essv2514377,essv2517676,essv2513896,essv2518426 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12287,NA12872,NA12873,NA12874,NA12878,NA19143,NA19240 esv272231 1 24813830 24814180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581568,essv2581052 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv160922 1 24831331 24839597 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179500 M 24 "" nsv460862 1 24859464 24912454 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537354 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SRRM1 HGDP00974 nsv870740 1 24888005 25216742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558423 S 6533 1 0 CLIC4,RUNX3 MS23257 nsv522437 1 24953109 25059303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705795 S 2026 1 0 CLIC4 nsv871066 1 24955439 25020337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514670 S 6533 0 1 CLIC4 SP56047 nsv871535 1 24985162 25057784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508596 S 6533 0 1 CLIC4 SP54579 nsv7076 1 24988905 25069215 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv973,nssv1983,nssv3984 M 9 0 3 CLIC4 NA12878,NA18555,NA19240 esv2525447 1 25030307 25034340 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183045 S 1 0 1 CLIC4 NA18507 esv2082154 1 25031077 25034306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974766 S 1 0 1 CLIC4 NA18507 nsv511684 1 25031132 25034328 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626323 S 1 0 1 CLIC4 1 esv3809 1 25031257 25034166 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26250 S 1 0 1 Single Asian sample YH CLIC4 YH nsv498666 1 25031274 25034113 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585426 S 9 0 1 CLIC4 esv995974 1 25031277 25034098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571583 S 3 0 1 CLIC4 HuRef esv1446144 1 25031290 25034112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781063 S 2 0 1 CLIC4 HuRef esv995045 1 25031290 25037077 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564027 S 3 0 1 CLIC4 HuRef nsv160319 1 25031291 25034112 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178897 M 24 CLIC4 esv7429 1 25031292 25034100 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29870 S 1 0 1 CLIC4 SJK esv26140 1 25074420 25076013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10325 S 451 0 3 "" NA18909,NA19099,NA19240 nsv508581 1 25083566 25167306 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622760 S 4 0 1 RUNX3 NA18994 nsv871803 1 25102718 25140509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509732 S 6533 0 1 RUNX3 SP54956 dgv198n71 1 25257120 25302060 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870575,nsv871482 M 6533 0 2 "" IS35701,MS20041 nsv870720 1 25270554 25358790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558424 S 6533 1 0 "" MS23257 nsv526082 1 25282194 25292029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702326 S 2026 0 1 "" nsv471772 1 25283474 25283645 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646053 M 0.021 95 "" dgv44e1 1 25318097 25336438 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5839,esv1221 M 271 0 0 "" NA18524 nsv523480 1 25332019 25333235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699245 S 2026 0 1 "" nsv818112 1 25392210 25398468 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417310 S 112 0 1 "" NA18608 nsv7187 1 25396205 25428584 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6432 S 9 1 0 SYF2 NA12156 nsv7298 1 25443655 25544725 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3995,nssv9806,nssv6442,nssv10899 M 9 0 4 C1orf63,RHD,TMEM50A NA12156,NA12878,NA15510,NA18507 nsv232 1 25445605 25544725 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv232 S 1 0 1 C1orf63,RHD,TMEM50A NA15510 nsv834469 1 25454993 25635122 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444218,nssv1444107,nssv1444162,nssv1444173,nssv1444118,nssv1444229,nssv1444129,nssv1444240,nssv1444185,nssv1444140,nssv1444196,nssv1444151,nssv1444207 M 95 2 11 RHCE,RHD,TMEM50A,TMEM57 nsv9768 1 25455902 25640203 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13764,nssv14749,nssv13088,nssv14417,nssv13438,nssv13743,nssv13083,nssv15105,nssv15111,nssv14101,nssv15433,nssv15435,nssv15434,nssv14742,nssv15450,nssv15764,nssv13413,nssv12115,nssv16744,nssv13100,nssv13771,nssv13416,nssv15763,nssv12770,nssv13106,nssv14747,nssv29252,nssv12772,nssv12776,nssv13108,nssv14745,nssv13434,nssv17074,nssv15102,nssv13418,nssv16428,nssv14751,nssv16094,nssv13086,nssv18443,nssv17404 M 31 21 1 Samples from several populations that are part of the HapMap project. RHCE,RHD,TMEM50A,TMEM57 NA07048,NA10839,NA10847,NA10863,NA12155,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221,NA19240 nsv822143 1 25457603 25537973 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433413,nssv1430337,nssv1422364 M 31 0 3 RHD,TMEM50A AK16,NA18526,NA18552 nsv821372 1 25457603 25538019 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420280 S 1 0 1 RHD,TMEM50A NA10851 esv22615 1 25457812 25537782 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17091,esv19712 M 451 24 6 RHD,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv32921 1 25457932 25537445 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96835,essv101286,essv101732,essv93733,essv95026,essv100169 M 51 3 3 RHD,TMEM50A 21659,21805,21909,21972,22231,22286 dgv3e180 1 25458023 25537400 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009924,esv990723 M 3 1 0 RHD,TMEM50A HuRef esv2421857 1 25461733 25534799 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059401,essv5135973,essv5022476,essv5004315,essv5105392,essv5146558,essv5125283,essv5124398,essv5035013,essv5151593,essv5065734,essv5065928,essv5040974,essv5037893,essv5059254,essv5098695,essv5107616,essv5088003,essv5014510,essv5048811,essv5090060,essv5013628,essv5111829,essv5114671,essv5116093,essv5012871,essv5041714,essv5095554,essv5008221,essv5076093,essv5127709,essv5157994,essv5133094,essv5044349,essv5007583,essv5027267,essv5158031,essv5153623,essv5029243,essv5069482,essv5050338,essv5158872,essv5149523,essv5097618,essv5094217,essv5045154,essv5079399,essv5028430,essv5053235,essv5138232,essv5085338,essv5145360,essv5020838,essv5158951,essv5088120,essv5159485,essv5139596,essv5036702,essv5080575,essv5152069,essv5138781,essv5091441,essv5147272,essv5030906,essv5005217,essv5122992,essv5017876,essv5076799,essv5048844,essv5010391,essv5141824,essv5047152,essv5037688,essv5079981,essv5066634,essv5002879,essv5015901,essv5160623,essv5145980,essv5145070,essv5135986,essv5003958,essv5078382,essv5018977,essv5109110,essv5109647,essv5056096,essv5118643,essv5058251,essv5064492,essv5064974,essv5118565,essv5046481,essv5116136,essv5063196,essv5093377,essv5152955,essv5033301,essv5081685,essv5026739,essv5068241,essv5130611,essv5135218,essv5026235,essv5125910,essv5137308,essv5051480,essv5045453,essv5054376,essv5124630,essv5085137,essv5088678,essv5022767,essv5015825,essv5024154,essv5033915,essv5155256,essv5130404,essv5136383,essv5106070,essv5078911,essv5025353,essv5021910,essv5120740,essv5137751,essv5065371,essv5079059,essv5105366,essv5024098,essv5009459,essv5087504,essv5113590,essv5024213,essv5009799,essv5124430,essv5034606,essv5012855,essv5058217,essv5158180,essv5106123,essv5003226,essv5047766,essv5026565,essv5142656,essv5075759,essv5124283,essv5139792,essv5109869,essv5076833,essv5097823,essv5017260,essv5034343,essv5089551,essv5057653,essv5011384,essv5134977,essv5147235,essv5054650,essv5094025,essv5030807,essv5040904,essv5137440,essv5080406,essv5116489,essv5014447,essv5046028,essv5049421,essv5108293,essv5150897,essv5129477,essv5123139,essv5016090,essv5110081,essv5056058,essv5108066,essv5113423,essv5094802,essv5106367,essv5025268,essv5067157,essv5018521,essv5032508,essv5111735,essv5140307,essv5153011,essv5113903,essv5134935,essv5080467,essv5151764,essv5003234,essv5050184,essv5129683,essv5132018,essv5002344,essv5111192,essv5024116,essv5039265,essv5063006,essv5047101,essv5007672,essv5032861,essv5096259,essv5058426,essv5058514,essv5042292,essv5105430,essv5140020,essv5149063,essv5114255,essv5055329,essv5073133,essv5062085,essv5143138,essv5078460,essv5025216,essv5028365,essv5067947,essv5060529,essv5029065,essv5033550,essv5141369,essv5151146,essv5108756,essv5064696,essv5008817,essv5112124,essv5014373,essv5087858,essv5042185,essv5080281,essv5073403,essv5007066,essv5130660,essv5016991,essv5091094,essv5033778,essv5044887,essv5153490,essv5133133,essv5055624,essv5025602,essv5159704,essv5130794,essv5016506,essv5115319,essv5047974,essv5059029,essv5147839,essv5033407,essv5082929,essv5053389,essv5047250,essv5065254,essv5089045,essv5017565,essv5078218,essv5119807,essv5109954,essv5037110,essv5083652,essv5147588,essv5128172,essv5116864,essv5039765,essv5050776,essv5049893,essv5055335,essv5146020,essv5002183,essv5070189,essv5057263,essv5152295,essv5108701,essv5133677,essv5132115,essv5147945,essv5039122,essv5046501,essv5003311,essv5158896,essv5058769,essv5116211,essv5099909,essv5004352,essv5072538,essv5118360,essv5142111,essv5113628,essv5017327,essv5066801,essv5158850,essv5157141,essv5089478,essv5150619,essv5088421,essv5055292,essv5046014,essv5059195,essv5089622,essv5065634,essv5131302,essv5016370,essv5094386,essv5087709,essv5037645,essv5130239,essv5024612,essv5076452,essv5136938,essv5043793,essv5004232,essv5035986,essv5012416,essv5133792,essv5054446,essv5002155,essv5128808,essv5117026,essv5091674,essv5142370,essv5056633,essv5079054,essv5130187,essv5142820,essv5009261,essv5025505,essv5008097,essv5128978,essv5068330,essv5058796,essv5067460,essv5073065,essv5034340,essv5059333,essv5090256,essv5141412,essv5009382,essv5091462,essv5147815,essv5144277,essv5003442,essv5020784,essv5016021,essv5096398,essv5003366,essv5136889,essv5155647,essv5095663,essv5128183,essv5131476,essv5023035,essv5077667,essv5154564,essv5157623,essv5150816,essv5017143,essv5066670,essv5023178,essv5157836,essv5057948,essv5156244,essv5010813,essv5157677,essv5053567,essv5022144,essv5007440,essv5143932,essv5156202,essv5018506,essv5070008,essv5037674,essv5105085,essv5048597,essv5124582,essv5125039,essv5148164,essv5082433,essv5121511,essv5113984,essv5152554,essv5038039,essv5099229,essv5123095,essv5082163,essv5154775,essv5044859,essv5056082,essv5023208,essv5122226,essv5143595,essv5080950,essv5128345,essv5115091,essv5128108,essv5118896,essv5134564,essv5069190,essv5010857,essv5120048,essv5121794,essv5125105,essv5135855,essv5151355,essv5033012,essv5122105,essv5053175,essv5113393,essv5082883,essv5130740,essv5092242,essv5122788,essv5133513,essv5014537,essv5145086,essv5047169,essv5138177,essv5083463,essv5021447,essv5028311 M 1184 0 419 RHD NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07346,NA07349,NA07357,NA10830,NA10831,NA10835,NA10837,NA10838,NA10839,NA10843,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11882,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12248,NA12272,NA12273,NA12282,NA12283,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12740,NA12751,NA12752,NA12753,NA12761,NA12763,NA12766,NA12775,NA12776,NA12802,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12878,NA12890,NA12891,NA17980,NA17993,NA18102,NA18122,NA18154,NA18157,NA18159,NA18484,NA18488,NA18497,NA18507,NA18515,NA18516,NA18518,NA18519,NA18520,NA18526,NA18546,NA18552,NA18571,NA18599,NA18609,NA18613,NA18614,NA18615,NA18620,NA18631,NA18636,NA18640,NA18704,NA18855,NA18861,NA18863,NA18867,NA18869,NA18871,NA18872,NA18940,NA18946,NA18955,NA18960,NA18964,NA18994,NA19001,NA19054,NA19066,NA19075,NA19078,NA19079,NA19094,NA19095,NA19102,NA19107,NA19109,NA19117,NA19118,NA19122,NA19131,NA19132,NA19140,NA19141,NA19143,NA19146,NA19154,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19181,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19206,NA19209,NA19211,NA19214,NA19221,NA19222,NA19236,NA19237,NA19309,NA19317,NA19327,NA19350,NA19375,NA19379,NA19380,NA19382,NA19435,NA19448,NA19474,NA19649,NA19650,NA19652,NA19653,NA19654,NA19658,NA19659,NA19661,NA19662,NA19678,NA19680,NA19684,NA19685,NA19686,NA19700,NA19703,NA19716,NA19746,NA19749,NA19751,NA19773,NA19776,NA19778,NA19782,NA19784,NA19794,NA19819,NA19828,NA19900,NA19901,NA20276,NA20277,NA20279,NA20284,NA20287,NA20288,NA20289,NA20290,NA20297,NA20317,NA20319,NA20332,NA20333,NA20334,NA20335,NA20336,NA20342,NA20343,NA20344,NA20345,NA20349,NA20350,NA20356,NA20360,NA20363,NA20504,NA20505,NA20506,NA20509,NA20512,NA20516,NA20518,NA20519,NA20522,NA20524,NA20528,NA20529,NA20530,NA20534,NA20538,NA20539,NA20540,NA20541,NA20543,NA20586,NA20589,NA20752,NA20754,NA20755,NA20756,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20770,NA20771,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20796,NA20797,NA20801,NA20807,NA20808,NA20809,NA20811,NA20813,NA20819,NA20826,NA20846,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20859,NA20861,NA20870,NA20871,NA20873,NA20875,NA20879,NA20882,NA20884,NA20885,NA20888,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20902,NA20904,NA20908,NA20911,NA21089,NA21090,NA21091,NA21092,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21113,NA21115,NA21117,NA21118,NA21123,NA21137,NA21141,NA21143,NA21144,NA21295,NA21301,NA21302,NA21303,NA21333,NA21339,NA21353,NA21356,NA21359,NA21367,NA21371,NA21381,NA21385,NA21386,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21423,NA21424,NA21434,NA21435,NA21436,NA21441,NA21473,NA21475,NA21478,NA21480,NA21488,NA21489,NA21490,NA21524,NA21574,NA21575,NA21583,NA21599,NA21600,NA21601,NA21631,NA21635,NA21636,NA21647,NA21648,NA21678,NA21717,NA21718,NA21738,NA21740,NA21825 dgv199n71 1 25462210 25537253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871877,nsv870828 M 6533 0 2 RHD SP56089,SP56380 nsv433185 1 25462210 25537253 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463066 S 9 0 1 Samples from several populations that are part of the HapMap project. RHD NA12156 nsv820028 1 25463365 25536785 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418757 S 2 1 0 RHD AK1 nsv498667 1 25463557 25535542 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585437 S 9 0 1 RHD nsv7174 1 25464374 25590811 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9251,nssv9262 M 9 0 0 RHCE,RHD,TMEM50A NA18517 nsv513984 1 25465250 25536194 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627847 S 1414 1 0 RHD nsv442830 1 25465715 25534592 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RHD nsv7409 1 25467919 25500774 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4006 S 9 1 0 RHD NA12878 nsv822154 1 25468568 25538019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431065,nssv1429556 M 31 2 0 RHD,TMEM50A AK14,AK18 esv2451224 1 25469238 25531749 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204513 S 1 0 1 RHD NA18507 nsv482212 1 25471568 25529523 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558573 S 1 1 0 RHD KB1 esv29949 1 25482036 25536138 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84188 S 3 1 0 RHD WATSON esv29997 1 25488723 25521045 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84236 S 2 1 0 RHD HuRef nsv821617 1 25510392 25559491 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421385,nssv1421396 M 31 0 2 RHD,TMEM50A nsv834480 1 25511185 25641885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444251 S 95 1 0 RHCE,RHD,TMEM50A,TMEM57 nsv499798 1 25528107 25565790 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585484 S 9 0 0 RHCE,RHD,TMEM50A nsv870470 1 25532274 25786806 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569801 S 6533 1 0 LDLRAP1,RHCE,TMEM50A,TMEM57 IS31712 dgv200n71 1 25538558 25568422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870991,nsv871429,nsv870814,nsv871105,nsv870612,nsv871846,nsv870910 M 6533 27 0 RHCE,TMEM50A SP50561,SP51043,SP51109,SP51161,SP51260,SP52064,SP52175,SP52455,SP52661,SP52728,SP53368,SP54517,SP54561,SP54760,SP55056,SP55569,SP55843,SP56248,SP56313,SP56937,SP56975,SP57217,SP57341,SP57501,SP57672,SP58215,SP80936 nsv870798 1 25538830 25551823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506396,nssv1514047 M 6533 2 0 TMEM50A SP54294,SP55911 nsv870522 1 25543044 25605135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504674 S 6533 0 1 RHCE,TMEM50A SP52708 nsv871967 1 25545393 25605135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512376 S 6533 1 0 RHCE,TMEM50A SP55465 nsv870477 1 25553431 25568422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514048 S 6533 1 0 RHCE,TMEM50A SP55911 esv996331 1 25561153 25623155 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586287 S 3 1 0 RHCE,TMEM50A HuRef esv28510 1 25561198 25624359 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21345,esv16269,esv10711 M 451 23 7 RHCE,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv482037 1 25561328 25619950 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558398 S 1 1 0 RHCE,TMEM50A KB1 nsv7479 1 25584324 25617005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6452 S 9 1 0 RHCE NA12156 nsv870937 1 25620994 25641524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511312 S 6533 0 1 TMEM57 SP55021 nsv870664 1 25627688 25670710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514671 S 6533 0 1 TMEM57 SP56047 esv2570786 1 25631110 25632621 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375032 S 1 0 1 TMEM57 NA18507 nsv834491 1 25925489 26113195 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444273,nssv1444262 M 95 0 2 C1orf135,FAM54B,LOC646471,MAN1C1,MIR3917,PAQR7,SEPN1,STMN1 nsv871186 1 25942094 26017261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569802 S 6533 1 0 MAN1C1,SEPN1 IS31712 nsv819900 1 25961529 25965424 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419585 S 2 1 0 MAN1C1 AK1 esv2116011 1 25966663 25967529 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648407 S 1 0 1 MAN1C1 NA18507 nsv460884 1 25977560 26090671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537367 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf135,FAM54B,LOC646471,MAN1C1,PAQR7,SEPN1,STMN1 HGDP01023 nsv7490 1 25996935 26042615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6462 S 9 0 1 C1orf135,FAM54B,LOC646471,SEPN1 NA12156 esv2353706 1 26007187 26007636 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547374 S 1 0 1 SEPN1 NA18507 esv1998326 1 26021366 26022037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882212 S 1 0 1 FAM54B,LOC646471 NA18507 nsv834502 1 26033359 26186506 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444284 S 95 1 0 C1orf135,MIR3917,PAFAH2,PAQR7,STMN1 nsv822165 1 26035402 26035875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423950 S 31 0 1 C1orf135 NA18582 nsv871062 1 26061212 26156548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569803 S 6533 1 0 MIR3917,PAQR7,STMN1 IS31712 nsv834513 1 26122058 26286463 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444296 S 95 1 0 EXTL1,PAFAH2,SLC30A2,TRIM63 nsv7501 1 26186060 26219501 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4016 S 9 1 0 PAFAH2 NA12878 nsv871353 1 26208516 26253392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571847 S 6533 0 1 EXTL1,SLC30A2,TRIM63 IS32841 nsv508678 1 26250144 26305214 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622761 S 4 0 1 TRIM63 NA18994 nsv511129 1 26322688 26340581 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626365 S 1 0 1 PDIK1L 1 nsv819393 1 26322882 26323584 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419064 S 2 0 1 PDIK1L AK1 nsv7512 1 26327011 26355920 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv983,nssv6471 M 9 0 2 "" NA12156,NA19240 nsv822176 1 26328727 26337042 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437563,nssv1423951,nssv1437934,nssv1434164 M 31 4 0 "" NA18547,NA18570,NA18582,NA18951 nsv511685 1 26331902 26337511 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626324 S 1 0 1 "" 1 esv23014 1 26332157 26337219 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20260 S 451 23 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12239,NA12489,NA12749,NA12878,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19190,NA19257 nsv498668 1 26332682 26337394 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585448 S 9 0 1 "" nsv821140 1 26333085 26337699 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420292 S 1 0 1 "" NA10851 nsv822187 1 26333085 26337699 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428821,nssv1421447,nssv1423112,nssv1427250,nssv1431066,nssv1432052,nssv1431801,nssv1428020,nssv1436333,nssv1430338,nssv1437220,nssv1425491,nssv1422365 M 31 0 13 "" AK10,AK12,AK16,AK18,AK20,AK4,AK8,NA18542,NA18552,NA18949,NA18972,NA18997,NA18999 nsv514923 1 26333144 26336748 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628445 S 1414 0 0 "" esv2202284 1 26343585 26343998 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736067 S 1 0 1 "" NA18507 nsv871237 1 26355143 26388447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509733 S 6533 0 1 CNKSR1,GRRP1,ZNF593 SP54956 esv4795 1 26362364 26362929 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27236 S 1 0 1 Single Asian sample YH "" YH nsv160685 1 26362400 26362725 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179263 M 24 "" esv1290851 1 26362410 26362736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833066 S 2 0 1 "" HuRef esv9535 1 26362434 26362726 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31976 S 1 0 1 "" SJK dgv201n71 1 26393727 26442596 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871627,nsv871728 M 6533 3 0 CATSPER4,CEP85 MS25751,SP50856,SP54720 nsv871165 1 26530978 26582091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592101 S 6533 0 1 AIM1L,ZNF683 IS39233 esv1007945 1 26544094 26544144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584480 S 3 0 1 AIM1L HuRef esv1693475 1 26544109 26544160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874525 S 2 0 1 AIM1L HuRef esv993255 1 26544116 26544166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572032 S 3 0 1 AIM1L HuRef esv1056005 1 26598890 26598890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860909 S 2 1 0 "" HuRef esv1539325 1 26598896 26598896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612388 S 2 1 0 "" HuRef dgv202n71 1 26658513 26772031 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871510,nsv871045 M 6533 0 2 DHDDS,HMGN2,MIR1976,RPS6KA1 IS37646,MS17208 nsv526179 1 26733868 26778154 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702441 S 2026 1 0 MIR1976,RPS6KA1 esv8356 1 26794328 26794391 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30797 S 1 1 0 "" SJK nsv7175 1 26797061 26886029 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5431,nssv10774,nssv6489,nssv9811,nssv994,nssv6480,nssv1994,nssv4025,nssv5440 M 9 0 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv994838 1 26837438 26849722 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564799 S 3 0 0 "" HuRef dgv2n50 1 26838846 26847109 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513635,nsv513634 M 1 0 0 "" 1 nsv499540 1 26839406 26845950 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585485 S 9 0 0 "" esv1761897 1 26840409 26845806 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032934 S 2 0 0 "" HuRef nsv822198 1 26843335 26845358 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427251 S 31 1 0 "" AK8 esv275548 1 26869653 26898376 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586060 S 1250 0 1 ARID1A esv1007463 1 26882488 26887236 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565285 S 3 1 0 "" HuRef nsv7523 1 26940776 26985618 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8873 S 9 0 1 ARID1A NA12156 nsv870975 1 26985048 27030931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509734 S 6533 0 1 PIGV,ZDHHC18 SP54956 nsv820211 1 26999996 27023596 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418692 S 2 0 1 "" AK1 nsv834524 1 27029262 27193580 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444340,nssv1444318,nssv1444307,nssv1444373,nssv1444351,nssv1444362,nssv1444329 M 95 2 5 C1orf172,GPATCH3,GPN2,NR0B2,NUDC,SFN,TRNP1,ZDHHC18 nsv7535 1 27056171 27076901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9264 S 9 1 0 SFN NA18517 nsv508689 1 27111540 27158584 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620126 S 4 0 1 C1orf172,NR0B2,NUDC NA15510 esv1159948 1 27126362 27126362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022881 S 2 1 0 NUDC HuRef nsv870497 1 27188765 27218338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509735 S 6533 0 1 FAM46B,TRNP1 SP54956 nsv834535 1 27205663 27379004 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444384,nssv1444395 M 95 1 1 FAM46B,SLC9A1 nsv509058 1 27267926 27308443 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623778 S 4 1 0 SLC9A1 NA18994 esv2498789 1 27285352 27285762 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196385 S 1 1 0 "" NA18507 esv28309 1 27337400 27338705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14516 S 451 0 2 SLC9A1 NA19108,NA19114 esv1220296 1 27359590 27360237 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949051 S 2 0 1 "" HuRef nsv526051 1 27483333 27644596 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702288 S 2026 1 0 CD164L2,FCN3,GPR3,LOC644961,MAP3K6,SYTL1,TMEM222,WASF2,WDTC1 dgv203n71 1 27483333 27804285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871906,nsv870868 M 6533 0 2 AHDC1,CD164L2,FCN3,GPR3,LOC644961,MAP3K6,SYTL1,TMEM222,WASF2,WDTC1 MS10311,MS17208 nsv516766 1 27534822 27604238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654983,nssv670705 M 2026 0 2 CD164L2,FCN3,GPR3,MAP3K6,SYTL1,TMEM222,WASF2 dgv204n71 1 27544285 27568364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870964,nsv871238,nsv870756 M 6533 0 3 FCN3,MAP3K6,SYTL1 SP54043,SP54725,SP54988 nsv870665 1 27552384 27578152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509736 S 6533 0 1 FCN3,MAP3K6,SYTL1 SP54956 esv1006916 1 27565654 27579596 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565148 S 3 0 1 CD164L2,FCN3,MAP3K6 HuRef dgv14n27 1 27644596 27817946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460895,nsv460906 M 1557 0 2 AHDC1,FGR,WASF2 1780854103_A,HGDP00861 dgv205n71 1 27673069 27823714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871344,nsv870647 M 6533 0 2 AHDC1,FGR,WASF2 IS37646,MS16153 esv2459986 1 27675886 27677456 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207086 S 1 0 1 WASF2 NA18507 esv2248480 1 27676502 27677228 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593459 S 1 0 1 WASF2 NA18507 esv4796 1 27676654 27677123 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27237 S 1 0 1 Single Asian sample YH WASF2 YH esv2049917 1 27688425 27688740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809581 S 1 0 1 WASF2 NA18507 nsv159932 1 27688490 27688572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178510 M 24 WASF2 nsv460917 1 27721887 27810043 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537395 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AHDC1 HGDP00890 nsv522842 1 27721887 27884441 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698494 S 2026 1 0 AHDC1,FGR,IFI6 dgv206n71 1 27722525 27804285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870862,nsv871168 M 6533 0 2 AHDC1 IS33684,IS39233 dgv207n71 1 27722525 27838479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870747,nsv871256,nsv871871 M 6533 0 3 AHDC1,FGR IS32737,IS32841,SP54956 nsv520790 1 27731623 27749069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697612 S 2026 0 1 AHDC1 esv6834 1 27746665 27746744 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29275 S 1 1 0 AHDC1 SJK nsv508700 1 27755741 27852783 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620127 S 4 0 1 AHDC1,FGR NA15510 esv28987 1 27794010 27794965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17459 S 451 0 1 AHDC1 NA12006 esv3938 1 27807843 27808388 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26379 S 1 0 1 Single Asian sample YH "" YH esv2527619 1 27807978 27808106 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200455 S 1 0 1 "" NA18507 esv259985 1 27851778 27852159 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399752,essv2398846,essv2394410,essv2398728,essv2398379 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18582,NA18943,NA19005,NA19093 nsv160061 1 27852023 27852023 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178639 M 24 "" nsv509069 1 28016558 28105054 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621088 S 4 1 0 C1orf38,PPP1R8,RPA2,SCARNA1,STX12 NA15510 nsv511686 1 28051801 28054617 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626325 S 1 0 1 "" 1 nsv871591 1 28060303 28154879 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596808 S 6533 1 0 C1orf38,RPA2,SMPDL3B IS40646 nsv160741 1 28073149 28074083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179319 M 24 C1orf38 nsv870553 1 28076240 28113235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505646,nssv1513451 M 6533 2 0 C1orf38,RPA2 SP53791,SP55765 nsv512728 1 28077278 28077556 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625353 S 1 1 0 C1orf38 1 nsv871458 1 28081953 28140456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524455 S 6533 1 0 C1orf38,RPA2,SMPDL3B SP55028 esv2400943 1 28120208 28120877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647745 S 1 0 1 "" NA18507 esv3840 1 28120309 28120757 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26281 S 1 0 1 Single Asian sample YH "" YH esv6007 1 28120391 28120709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28448 S 1 0 1 "" SJK esv1132135 1 28120394 28120703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106955 S 2 0 1 "" HuRef esv2255639 1 28200372 28200819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919567 S 1 0 1 EYA3 NA18507 esv2641492 1 28200543 28200642 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244068 S 1 0 1 EYA3 NA18507 nsv871151 1 28305136 28512480 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558425 S 6533 1 0 ATPIF1,DNAJC8,PTAFR,SESN2 MS23257 nsv7546 1 28364799 28382553 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8875 S 9 0 1 PTAFR NA12156 dgv208n71 1 28436866 28698928 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871033,nsv871702 M 6533 2 0 ATPIF1,MED18,PHACTR4,SESN2 IS32843,MS16060 nsv819729 1 28437053 28444819 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419841 S 2 0 1 ATPIF1 AK1 esv994212 1 28469991 28480057 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564064 S 3 0 1 SESN2 HuRef esv2452579 1 28493653 28495158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173712 S 1 0 1 "" NA18507 esv1987510 1 28494019 28494439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722951 S 1 0 1 "" NA18507 nsv870624 1 28510846 28646735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504953 S 6533 1 0 MED18,PHACTR4 SP52914 esv27407 1 28525684 28527481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20171 S 451 0 2 "" NA18861,NA19129 nsv7557 1 28536220 28568097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4043,nssv1003,nssv2893,nssv6496 M 9 4 0 "" NA12156,NA12878,NA18555,NA19240 nsv7568 1 28580390 28611219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2004 S 9 1 0 PHACTR4 NA18555 nsv506924 1 28807179 28813179 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619229 S 4 1 0 TAF12 NA10860 nsv819244 1 28810774 28820198 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418577 S 2 0 1 TAF12 AK1 nsv822209 1 28822555 28828270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439451 S 31 0 1 TAF12 NA18537 esv27154 1 28881153 28882469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17553 S 451 0 1 GMEB1 NA12489 nsv509080 1 28925638 28954514 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621089 S 4 1 0 YTHDF2 NA15510 nsv160265 1 28950199 28952457 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178843 M 24 YTHDF2 dgv3n21 1 28980482 29017775 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525553,nsv517547 M 2026 0 3 OPRD1 nsv460928 1 28980482 29038725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537404 S 1557 0 1 OPRD1 1782681216_A nsv519203 1 28980482 29047960 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696691 S 2026 1 0 OPRD1 nsv871326 1 29001138 29076494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553569 S 6533 0 1 OPRD1 MS20195 nsv525310 1 29011562 29017775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701417 S 2026 0 1 OPRD1 nsv511687 1 29176875 29179033 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626326 S 1 0 1 EPB41 1 esv25713 1 29177014 29178897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18451 S 451 0 2 EPB41 NA18517,NA18858 nsv7579 1 29220048 29264692 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4053 S 9 0 1 EPB41 NA12878 nsv509091 1 29302319 29362998 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619783 S 4 1 0 EPB41,SRSF4,TMEM200B NA10860 nsv871249 1 29415224 29542828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558426 S 6533 1 0 MECR,PTPRU MS23257 nsv822220 1 29434584 29437978 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433414 S 31 1 0 PTPRU NA18526 nsv834546 1 29444869 29632888 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444407,nssv1444418 M 95 0 2 PTPRU nsv871120 1 29608803 29666834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558427 S 6533 1 0 "" MS23257 nsv7590 1 29708903 29740480 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5449 S 9 1 0 "" NA19129 esv1675706 1 29717841 29717841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292225 S 2 1 0 "" HuRef esv2513036 1 29717842 29717917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332447 S 1 0 1 "" NA18507 esv271099 1 29734959 29735262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494177,essv2504033,essv2496163,essv2495487,essv2509626,essv2497068,essv2502137 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18511,NA18916,NA19129,NA19190,NA19257 nsv870907 1 29743041 29944582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589574 S 6533 1 0 "" IS38384 dgv4n21 1 29906089 29907258 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526370,nsv521489 M 2026 2 0 "" esv1005469 1 29907304 29912882 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565186 S 3 0 1 "" HuRef esv1779209 1 29923618 29923669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956446 S 2 0 1 "" HuRef nsv7601 1 29930656 29957535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2014 S 9 1 0 "" NA18555 nsv509102 1 29945493 30010314 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619784 S 4 1 0 "" NA10860 esv1170546 1 30016746 30016746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038385 S 2 1 0 "" HuRef esv1184465 1 30016800 30016800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058687 S 2 1 0 "" HuRef nsv870789 1 30032312 30459715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589575 S 6533 1 0 "" IS38384 esv8236 1 30117864 30118631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30677 S 1 0 1 "" SJK nsv460951 1 30141470 30175555 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537426 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00976 nsv7612 1 30153177 30198112 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8893 S 9 0 1 "" NA12156 esv1002943 1 30192852 30204151 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563870 S 3 0 1 "" HuRef nsv7623 1 30199030 30231539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6516 S 9 1 0 "" NA12156 nsv515814 1 30258715 30260927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667788,nssv664863,nssv683554,nssv658372,nssv668377,nssv657229 M 2026 0 6 "" esv25779 1 30304515 30305330 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10698 S 451 1 0 "" NA19099 nsv7634 1 30304693 30325671 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8909 S 9 0 1 "" NA12156 nsv834558 1 30361070 30540999 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444429 S 95 1 0 "" esv2072629 1 30436704 30437184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969544 S 1 0 1 "" NA18507 nsv870535 1 30442056 30522142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558428 S 6533 1 0 "" MS23257 esv29671 1 30461256 30466400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15135,esv20952 M 451 0 2 "" NA11894,NA18517 dgv45e1 1 30478922 30514243 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20474,essv24093,essv20991,esv1036,essv17690 M 271 0 0 "" NA07048,NA10835,NA10863,NA12249 nsv871395 1 30484400 30549676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580216 S 6533 0 1 "" IS35244 essv23694 1 30509960 30512383 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12740 esv26727 1 30510995 30512660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17301 S 451 0 3 "" NA12414,NA12489,NA15510 essv23632 1 30511019 30514083 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07055 nsv9879 1 30511057 30513066 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14079,nssv13746 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA12740 nsv7646 1 30544833 30578979 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1013 S 9 1 0 "" NA19240 esv27233 1 30546544 30547144 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11685 S 451 1 0 "" NA18861 nsv834569 1 30550650 30704943 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444440 S 95 1 0 "" nsv871498 1 30616707 30646056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597265,nssv1543360 M 6533 0 2 "" IS40799,MS16153 nsv509113 1 30636578 30654856 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621090,nssv623779,nssv619785,nssv617991 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv7657 1 30644163 30655616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4077,nssv1022 M 9 2 0 "" NA12878,NA19240 nsv499355 1 30651101 30651402 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586152 S 9 1 0 "" esv2214908 1 30654964 30655384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593443 S 1 0 1 "" NA18507 nsv7668 1 30660933 30706220 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8924 S 9 0 1 "" NA12156 nsv834580 1 30665224 30827346 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444451 S 95 0 1 "" nsv520401 1 30753373 30758238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697394 S 2026 0 1 "" esv8551 1 30806429 30806639 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30992 S 1 0 0 "" SJK esv6950 1 30813243 30814250 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29391 S 1 0 1 "" SJK nsv871762 1 30869567 30921543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558429 S 6533 1 0 "" MS23257 nsv7679 1 30880511 30914143 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10785,nssv1031 M 9 2 0 "" NA18956,NA19240 nsv460995 1 30886310 31044638 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537451 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LAPTM5,LOC100129196,MATN1,MIR4420 HGDP01203 esv6869 1 30895308 30897199 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29310 S 1 0 1 "" SJK esv24111 1 30896875 30897370 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11013 S 451 1 0 "" NA12287 esv1182314 1 30897176 30897176 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283188 S 2 1 0 "" HuRef nsv512730 1 30900874 30901206 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625356 S 1 1 0 "" 1 nsv871304 1 30940148 31011083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546458 S 6533 0 1 LAPTM5,LOC100129196,MATN1,MIR4420 MS17208 esv26125 1 30942241 30944401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10436 S 451 0 3 "" NA18907,NA19099,NA19240 nsv509124 1 30956044 31005140 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619786 S 4 1 0 LAPTM5,LOC100129196,MATN1,MIR4420 NA10860 esv1007398 1 30975685 30977627 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565079 S 3 1 0 "" HuRef nsv512731 1 30977722 30977961 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625357 S 1 1 0 LAPTM5 1 nsv7690 1 31004937 31035943 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5460 S 9 1 0 "" NA19129 esv1920491 1 31017065 31017455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835916 S 1 0 1 "" NA18507 nsv160695 1 31017158 31017249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179273 M 24 "" esv1626816 1 31017248 31017342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654771 S 2 0 1 "" HuRef nsv159749 1 31017249 31017342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178327 M 24 "" nsv159205 1 31018594 31018594 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177783 M 24 "" esv4431 1 31021624 31022114 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26872 S 1 0 1 Single Asian sample YH "" YH esv1377768 1 31021740 31021811 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095672 S 2 0 1 "" HuRef nsv519204 1 31110004 31174735 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696692 S 2026 1 0 SDC3 nsv461006 1 31119907 31148156 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537462 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDC3 HGDP01077 nsv470707 1 31134811 31190045 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547720 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PUM1,SDC3,SNORD103A,SNORD103B HGDP01049 esv2244846 1 31139876 31140318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651898 S 1 0 1 SDC3 NA18507 nsv160596 1 31139968 31140032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179174 M 24 SDC3 nsv160199 1 31140093 31140159 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178777 M 24 SDC3 nsv7701 1 31211445 31241511 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10787 S 9 1 0 PRO0611,PUM1,SNORD85 NA18956 nsv506925 1 31244010 31250010 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617528,nssv623266,nssv619230 M 4 3 0 PUM1 CHM,NA10860,NA18994 nsv508711 1 31330841 31437982 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618969 S 4 0 1 NKAIN1 NA10860 esv21850 1 31347232 31348424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11728 S 451 0 1 "" NA12878 nsv870772 1 31391353 31434508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509738 S 6533 0 1 NKAIN1 SP54956 esv274929 1 31394002 31397976 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585894 S 1250 0 1 "" nsv870693 1 31445850 31487225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557061 S 6533 0 1 NKAIN1 MS22353 nsv160707 1 31449037 31450756 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179285 M 24 NKAIN1 dgv46e1 1 31454967 32238918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19201,esv639,essv24452 M 271 0 0 BAI2,COL16A1,FABP3,HCRTR1,LOC149086,LOC284551,MIR4254,NKAIN1,PEF1,PTP4A2,SERINC2,SNRNP40,SPOCD1,TINAGL1,ZCCHC17 NA12865 esv21860 1 31469492 31470357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18661 S 451 0 8 NKAIN1 NA18505,NA18523,NA18861,NA18907,NA18909,NA19129,NA19190,NA19257 nsv9990 1 31492563 31496044 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15765 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv822231 1 31492567 31494342 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438184,nssv1439453 M 31 0 2 "" NA18537,NA18592 esv1672561 1 31497487 31497487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730001 S 2 1 0 "" HuRef nsv161067 1 31504561 31513729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179645 M 24 SNRNP40 nsv10051 1 31506872 31509756 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16093 S 31 1 0 Samples from several populations that are part of the HapMap project. SNRNP40 NA18504 esv1665695 1 31590996 31590996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776205 S 2 1 0 ZCCHC17 HuRef esv1003353 1 31615089 31622196 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564863 S 3 0 1 FABP3 HuRef nsv520589 1 31628061 31630585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697507 S 2026 0 1 "" esv1538435 1 31632360 31632734 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880925 S 2 0 1 "" HuRef nsv7712 1 31659995 31688285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6532,nssv4085,nssv1039,nssv5468 M 9 4 0 SERINC2 NA12156,NA12878,NA19129,NA19240 nsv509135 1 31666005 31717658 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619787,nssv621091 M 4 2 0 SERINC2 NA10860,NA15510 esv1004118 1 31676044 31677315 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564081 S 3 1 0 SERINC2 HuRef esv21814 1 31677152 31677661 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12924 S 451 2 0 SERINC2 NA12156,NA12287 esv1133300 1 31677421 31677421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979486 S 2 1 0 SERINC2 HuRef esv1676191 1 31677571 31677571 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990095 S 2 1 0 SERINC2 HuRef nsv509147 1 31733210 31765262 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623780,nssv617992,nssv621092,nssv619788 M 4 4 0 LOC149086,LOC284551 CHM,NA10860,NA15510,NA18994 nsv7723 1 31734799 31765936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2021,nssv5475,nssv1048,nssv6542,nssv10798,nssv4095 M 9 6 0 LOC149086,LOC284551 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv1008042 1 31738859 31761805 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565286 S 3 1 0 LOC149086,LOC284551 HuRef esv1047143 1 31740406 31740406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825409 S 2 1 0 "" HuRef esv2559743 1 31744072 31766217 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234776 S 1 0 0 LOC149086,LOC284551 NA18507 esv1513298 1 31744131 31744131 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602292 S 2 1 0 "" HuRef nsv7734 1 31773326 31802980 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6550 S 9 1 0 "" NA12156 esv4808 1 31784311 31784825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27249 S 1 0 1 Single Asian sample YH "" YH nsv10062 1 31809488 31861569 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14086,nssv15780 M 31 1 1 Samples from several populations that are part of the HapMap project. HCRTR1,TINAGL1 NA18552,NA19221 esv1695245 1 31817131 31817196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937819 S 2 0 1 TINAGL1 HuRef dgv209n71 1 31834653 31982056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871735,nsv871205 M 6533 0 2 BAI2,COL16A1,HCRTR1,PEF1 MS13770,MS19771 nsv470708 1 31865112 31919351 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547721 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL16A1,HCRTR1,PEF1 HGDP00546 nsv818123 1 31906324 31919351 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415933 S 112 0 1 COL16A1 NA12750 nsv870517 1 31914941 31933505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499431 S 6533 0 1 COL16A1 SP50159 nsv528364 1 31919351 31929596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704951 S 2026 0 1 COL16A1 nsv461028 1 31938082 31987765 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537481 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAI2,COL16A1 HGDP00433 dgv210n71 1 31961581 32019683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870597,nsv871574 M 6533 0 2 BAI2,MIR4254 SP54956,SP54988 esv2517616 1 32045190 32046215 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181268 S 1 1 0 SPOCD1 NA18507 nsv870880 1 32053197 32115955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558430 S 6533 1 0 SPOCD1 MS23257 nsv822242 1 32053586 32054159 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431802 S 31 0 1 SPOCD1 AK20 esv260047 1 32053879 32054161 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395624,essv2394436,essv2400980,essv2396370 M 144 0 0 Samples from several populations that are part of the HapMap project. SPOCD1 NA18501,NA18943,NA19099,NA19138 nsv160616 1 32053964 32053964 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179194 M 24 SPOCD1 esv33582 1 32135537 32184713 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98660 S 51 0 1 PTP4A2 21606 nsv834591 1 32144041 32298052 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444462 S 95 0 1 KHDRBS1,PTP4A2 esv2127776 1 32146113 32146564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820483 S 1 0 1 PTP4A2 NA18507 esv271107 1 32183835 32183920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516107 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv10073 1 32220872 32225009 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16758 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv820067 1 32221830 32224443 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419454 S 2 0 1 "" AK1 nsv822254 1 32222562 32224153 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428021,nssv1440121 M 31 0 2 "" AK10,NA18564 esv25480 1 32317183 32320556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16902 S 451 0 1 TMEM39B NA11993 nsv7745 1 32422058 32430257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10803 S 9 1 0 TXLNA NA18956 nsv300 1 32445100 32479877 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1059 S 9 1 0 DCDC2B,EIF3I,IQCC,MTMR9LP,TMEM234 NA19240 dgv211n71 1 32564945 32603693 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871957,nsv870591 M 6533 0 2 BSDC1,HDAC1,LOC100128071,MARCKSL1,TSSK3 SP54956,SP54988 esv7048 1 32605825 32605908 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29489 S 1 1 0 BSDC1 SJK nsv521689 1 32639304 32647867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698309 S 2026 0 1 "" nsv517673 1 32647543 32647867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656688,nssv658183,nssv652612,nssv665622,nssv660765,nssv683040,nssv658815,nssv654560,nssv654219,nssv693089,nssv671459,nssv664022 M 2026 0 12 "" nsv461039 1 32804999 32923538 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537491 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBBP4,SYNC,ZBTB8A,ZBTB8OS HGDP00017 esv2576617 1 32819170 32819844 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236514 S 1 1 0 ZBTB8A NA18507 nsv512732 1 32819193 32820196 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625358 S 1 1 0 ZBTB8A 1 esv1277305 1 32819375 32819375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891525 S 2 1 0 ZBTB8A HuRef nsv519188 1 32857831 33019027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696672 S 2026 0 1 KIAA1522,RBBP4,SYNC,YARS,ZBTB8OS nsv160489 1 32891848 32896738 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179067 M 24 RBBP4 nsv509158 1 32929901 33022008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619789 S 4 1 0 KIAA1522,SYNC,YARS NA10860 nsv311 1 32949046 32968932 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8951 S 9 1 0 "" NA12156 nsv822265 1 32967265 32968667 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440808 S 31 1 0 "" NA18969 nsv322 1 32996547 33020183 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8957 S 9 0 1 KIAA1522,YARS NA12156 nsv516302 1 33093188 33152695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699367,nssv670847,nssv667416,nssv696432,nssv687923,nssv672465,nssv668935,nssv661821,nssv668150 M 2026 0 9 FNDC5,HPCA,S100PBP,TMEM54 dgv212n71 1 33122770 33143917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871455,nsv870946 M 6533 0 2 HPCA,TMEM54 SP54956,SP54988 nsv509169 1 33181825 33270093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619790 S 4 1 0 AK2,RNF19B NA10860 nsv834602 1 33185879 33354409 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444473 S 95 0 1 ADC,AK2,RNF19B nsv512734 1 33224583 33224995 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625360 S 1 1 0 "" 1 esv2080204 1 33248839 33251558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892698 S 1 0 1 AK2 NA18507 esv7538 1 33248939 33251497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29979 S 1 0 1 AK2 SJK esv2326918 1 33251509 33259617 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754145 S 1 0 1 AK2 NA18507 esv1076420 1 33290084 33290084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933980 S 2 1 0 "" HuRef esv1009865 1 33423449 33426525 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565473 S 3 1 0 "" HuRef nsv512735 1 33424398 33425033 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625361 S 1 1 0 "" 1 nsv520532 1 33463285 33468744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697472 S 2026 0 1 "" nsv524709 1 33504779 33510013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700693 S 2026 0 1 ZNF362 nsv522364 1 33504779 33605520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695144 S 2026 0 1 MIR3605,PHC2,ZNF362 nsv871813 1 33533330 33639689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546459 S 6533 0 1 MIR3605,PHC2,ZNF362 MS17208 nsv516693 1 33557214 33592721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689909,nssv670196,nssv657897,nssv687609 M 2026 0 4 MIR3605,PHC2 nsv834613 1 33572793 33734375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444484 S 95 1 0 PHC2,ZSCAN20 esv1384773 1 33594482 33594482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757381 S 2 1 0 PHC2 HuRef nsv333 1 33629945 33675095 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8973 S 9 0 1 "" NA12156 nsv161059 1 33643387 33649647 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179637 M 24 "" nsv344 1 33706402 33727595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9819,nssv1070 M 9 2 0 ZSCAN20 NA18507,NA19240 nsv355 1 33774181 33807836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5476 S 9 1 0 CSMD2 NA19129 nsv819833 1 33797262 33797607 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418793 S 2 1 0 CSMD2 AK1 esv22194 1 33801325 33802207 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15686 S 451 0 1 CSMD2 NA19147 nsv518591 1 33801657 33805004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696037 S 2026 0 1 CSMD2 esv25436 1 33813677 33815418 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9843 S 451 0 2 CSMD2 NA12006,NA12878 nsv366 1 33867154 33899542 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4102 S 9 1 0 CSMD2 NA12878 nsv524359 1 33983119 33985987 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700270 S 2026 1 0 CSMD2 nsv509180 1 34002911 34088610 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621093 S 4 1 0 CSMD2 NA15510 esv272149 1 34052621 34052921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510989,essv2499525 M 157 2 0 Samples from several populations that are part of the HapMap project. CSMD2 NA07357,NA11831 esv27629 1 34066809 34067434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13302 S 451 0 1 CSMD2 NA19257 nsv834624 1 34078260 34244419 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444495 S 95 0 1 CSMD2,HMGB4,LOC402779 nsv871907 1 34096074 34134418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578852 S 6533 0 1 CSMD2,HMGB4,LOC402779 IS34954 esv34112 1 34100866 34183579 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CSMD2,HMGB4,LOC402779 esv25885 1 34179535 34184619 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15068 S 451 0 1 CSMD2 NA12044 nsv834635 1 34191925 34384562 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444506 S 95 1 0 CSMD2 nsv470709 1 34193283 34697183 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547724,nssv547725,nssv547722 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf94,CSMD2 HGDP00890,HGDP00982,HGDP00983 nsv834646 1 34286753 34461293 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444518 S 95 1 0 C1orf94,CSMD2 nsv461062 1 34316717 34319281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537511 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD2 HGDP01317 esv2267346 1 34340556 34341056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953377 S 1 0 1 CSMD2 NA18507 nsv834657 1 34340673 34517053 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444529 S 95 1 0 C1orf94,CSMD2 esv1307103 1 34340765 34340860 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968445 S 2 0 1 CSMD2 HuRef nsv158970 1 34340791 34340885 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177548 M 24 CSMD2 nsv506926 1 34370267 34376267 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623267,nssv620650,nssv619231,nssv617529 M 4 4 0 CSMD2 CHM,NA10860,NA15510,NA18994 esv270278 1 34408902 34408997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511785,essv2493286,essv2509695,essv2501185,essv2494064,essv2509222,essv2501336,essv2506726,essv2493840 M 157 9 0 Samples from several populations that are part of the HapMap project. C1orf94 NA18499,NA18504,NA18508,NA18516,NA18871,NA18909,NA19093,NA19108,NA19210 nsv834669 1 34421604 34599428 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444540 S 95 1 0 C1orf94 nsv870648 1 34519267 34562882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518416 S 6533 0 1 "" SP57553 nsv377 1 34528557 34558810 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2038 S 9 1 0 "" NA18555 nsv521016 1 34537561 34556271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697737 S 2026 0 1 "" nsv524723 1 34562882 34627215 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700709 S 2026 1 0 "" nsv870768 1 34586268 34785013 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558431 S 6533 1 0 "" MS23257 nsv528365 1 34594418 34607545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704952 S 2026 0 1 "" nsv388 1 34636134 34681258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8984 S 9 0 1 "" NA12156 nsv521683 1 34639243 34639955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698303 S 2026 0 1 "" esv2497338 1 34779251 34779683 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255546 S 1 1 0 "" NA18507 nsv10084 1 34847046 34853646 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13436 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv243 1 34862127 34887178 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv243 S 1 0 1 "" NA15510 nsv399 1 34862127 34893747 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6567,nssv4111,nssv10904 M 9 0 3 "" NA12156,NA12878,NA15510 esv32563 1 34867574 34883404 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101290,essv96198,essv94955 M 51 3 0 "" 21805,22007,22231 nsv511144 1 34868239 34885771 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625599 S 1 0 1 "" 1 nsv10095 1 34869617 34884877 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12761,nssv14416,nssv14076 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA10863,NA12872,NA18552 dgv2n17 1 34870107 34885771 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437257,nsv437146,nsv437035,nsv437368 M 60 0 4 "" NA10830,NA10854,NA12753,NA12878 nsv870994 1 34870107 34915462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600260,nssv1563767 M 6533 0 2 "" IS30067,IS41866 nsv870700 1 34870107 35005059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499717 S 6533 0 1 GJB4,GJB5 SP50598 nsv511688 1 34873412 34885449 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626327 S 1 0 1 "" 1 esv1009124 1 34873811 34890553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564360 S 3 0 1 "" HuRef nsv498669 1 34874008 34884565 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585452 S 9 0 1 "" esv28454 1 34874894 34884557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19701 S 451 0 14 "" NA07037,NA07045,NA12156,NA12414,NA12489,NA12828,NA12878,NA15510,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147 nsv442849 1 34875241 34877078 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422091 1 34875241 34880863 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056393,essv5063361,essv5148545,essv5059648,essv5066310,essv5158912,essv5095113,essv5058619,essv5069035,essv5126455,essv5135509,essv5158294,essv5155019,essv5095660,essv5033697,essv5046582,essv5002230,essv5035746,essv5115531,essv5142758,essv5112317,essv5039338,essv5072649,essv5020020,essv5058708,essv5059359,essv5006930,essv5007480,essv5104255,essv5030860,essv5125045,essv5104277,essv5006844,essv5076121,essv5018078,essv5135363,essv5065098,essv5078345,essv5102747,essv5019836,essv5139012,essv5027320,essv5127877,essv5112045,essv5080690,essv5095728,essv5002809,essv5056269,essv5028088,essv5030341,essv5044326,essv5080212,essv5016096,essv5076930,essv5023849,essv5144539,essv5095052,essv5138703,essv5012186,essv5023645,essv5089519,essv5123331,essv5017119,essv5084194,essv5123282,essv5086158,essv5102019,essv5018448,essv5138524,essv5044591,essv5076707,essv5103589,essv5155472,essv5023666,essv5099758,essv5094315,essv5141281,essv5044536,essv5127008,essv5136799,essv5046658,essv5046052,essv5005201,essv5152596,essv5140562,essv5077926,essv5046773,essv5017112,essv5051055,essv5152476,essv5058108,essv5093135,essv5120843,essv5066872,essv5049889,essv5044338,essv5131045,essv5100714,essv5072057,essv5080889,essv5117486,essv5157891,essv5012029,essv5100007,essv5158290,essv5097140,essv5016222,essv5043462,essv5063436,essv5090758,essv5089133,essv5122351,essv5081074,essv5055276,essv5073095,essv5078571,essv5044945,essv5107245,essv5096541,essv5129814,essv5150440,essv5062426,essv5005842,essv5123031,essv5151621,essv5124550,essv5038399,essv5117775,essv5018069,essv5082754,essv5031408,essv5041405,essv5002846,essv5101634,essv5160957,essv5044735,essv5114540,essv5156574,essv5077086,essv5032936,essv5087710,essv5135987,essv5012801,essv5128919,essv5022114,essv5094208,essv5054883,essv5089503,essv5119576,essv5066682,essv5048243,essv5010301,essv5056262,essv5109643,essv5007150,essv5034585,essv5127762,essv5122040,essv5115252,essv5021016,essv5082307,essv5118220,essv5075462,essv5028872,essv5078719,essv5035493,essv5033796,essv5148240,essv5092792,essv5022634,essv5131067,essv5025099,essv5006536,essv5026816,essv5112939,essv5118529,essv5135585,essv5057014,essv5094681,essv5061612,essv5029122,essv5054112,essv5015066,essv5121587,essv5044538,essv5032805,essv5131276,essv5043757,essv5051575,essv5049488,essv5090629,essv5069167,essv5018780,essv5149077,essv5129127,essv5056965,essv5061839,essv5041588,essv5088458,essv5069261,essv5157296,essv5148665,essv5058389,essv5088494,essv5145647,essv5118275,essv5144804,essv5160747,essv5041738,essv5050635,essv5078515,essv5066826,essv5030610,essv5072436,essv5035657,essv5076095,essv5041477,essv5100341,essv5095850,essv5071735,essv5110657,essv5031856,essv5067966,essv5143522,essv5137350,essv5132508,essv5051329,essv5050001,essv5051506,essv5148825,essv5100934,essv5120430,essv5146925,essv5128137,essv5010219,essv5027526,essv5068275,essv5022709,essv5051811,essv5086476,essv5106134,essv5134202,essv5116978,essv5014723,essv5101794,essv5116283,essv5105716,essv5004171,essv5144292,essv5118087,essv5100815,essv5096860,essv5107416,essv5014715,essv5061851,essv5147293,essv5131138,essv5118463,essv5124441,essv5106068,essv5065650,essv5051221,essv5134632,essv5054733,essv5027449,essv5096667,essv5156600,essv5120273,essv5117395,essv5030971,essv5149906,essv5027975,essv5031426,essv5065479,essv5083084,essv5087018,essv5056215,essv5008006 M 1184 0 278 "" NA06984,NA06993,NA06995,NA06997,NA07014,NA07031,NA07037,NA07045,NA07051,NA07056,NA07345,NA07348,NA07357,NA10830,NA10836,NA10853,NA10854,NA10856,NA10863,NA10864,NA10865,NA11829,NA11839,NA11843,NA11881,NA11882,NA11891,NA11893,NA11992,NA11995,NA12145,NA12154,NA12156,NA12234,NA12249,NA12264,NA12344,NA12347,NA12348,NA12375,NA12376,NA12399,NA12489,NA12751,NA12753,NA12763,NA12766,NA12775,NA12817,NA12828,NA12829,NA12830,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12892,NA17965,NA17976,NA17995,NA17996,NA18101,NA18102,NA18112,NA18138,NA18149,NA18155,NA18484,NA18486,NA18497,NA18499,NA18520,NA18544,NA18548,NA18550,NA18552,NA18562,NA18566,NA18570,NA18582,NA18595,NA18612,NA18626,NA18630,NA18632,NA18633,NA18634,NA18636,NA18638,NA18643,NA18674,NA18702,NA18704,NA18747,NA18858,NA18861,NA18870,NA18940,NA18962,NA18964,NA18977,NA19001,NA19031,NA19036,NA19046,NA19057,NA19080,NA19087,NA19094,NA19095,NA19097,NA19099,NA19107,NA19108,NA19109,NA19117,NA19121,NA19123,NA19137,NA19138,NA19139,NA19147,NA19148,NA19171,NA19174,NA19178,NA19180,NA19181,NA19185,NA19186,NA19192,NA19194,NA19197,NA19199,NA19203,NA19206,NA19207,NA19208,NA19223,NA19224,NA19226,NA19235,NA19237,NA19248,NA19249,NA19308,NA19310,NA19315,NA19316,NA19359,NA19371,NA19373,NA19383,NA19384,NA19390,NA19393,NA19429,NA19430,NA19437,NA19445,NA19446,NA19448,NA19449,NA19452,NA19455,NA19463,NA19472,NA19625,NA19651,NA19652,NA19653,NA19660,NA19664,NA19669,NA19670,NA19671,NA19685,NA19708,NA19714,NA19716,NA19720,NA19721,NA19747,NA19756,NA19757,NA19761,NA19763,NA19774,NA19775,NA19779,NA19783,NA19784,NA19834,NA19836,NA19900,NA19902,NA19916,NA19985,NA20126,NA20276,NA20282,NA20284,NA20357,NA20358,NA20508,NA20534,NA20538,NA20541,NA20544,NA20582,NA20586,NA20588,NA20761,NA20765,NA20768,NA20770,NA20775,NA20783,NA20787,NA20792,NA20795,NA20805,NA20808,NA20828,NA20849,NA20850,NA20853,NA20854,NA20869,NA20903,NA20907,NA20910,NA21098,NA21106,NA21113,NA21118,NA21123,NA21301,NA21311,NA21312,NA21313,NA21314,NA21320,NA21333,NA21339,NA21359,NA21361,NA21362,NA21367,NA21381,NA21383,NA21399,NA21401,NA21403,NA21404,NA21408,NA21423,NA21438,NA21439,NA21447,NA21494,NA21513,NA21514,NA21520,NA21521,NA21522,NA21576,NA21599,NA21601,NA21611,NA21613,NA21617,NA21619,NA21685,NA21686,NA21825 nsv822276 1 34876536 34884526 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423954,nssv1435650,nssv1434165,nssv1422366 M 31 0 4 "" NA18552,NA18566,NA18570,NA18582 nsv513985 1 34876736 34877140 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627958 S 1414 0 1 "" nsv438366 1 34876909 34880863 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470407,nssv470074,nssv469740,nssv469629,nssv470296,nssv470185,nssv469963,nssv469851 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA10830,NA10854,NA11839,NA12154,NA12753,NA12763,NA12878,NA12892 nsv516954 1 34879856 34880863 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690846,nssv676247,nssv686521,nssv664843,nssv658164,nssv653496,nssv657679,nssv653936,nssv676478,nssv660609,nssv663637,nssv689139,nssv662596,nssv692397,nssv688198,nssv684981,nssv680832,nssv662263,nssv667647,nssv692641,nssv674550,nssv657434,nssv657451,nssv657127,nssv684742,nssv678549 M 2026 0 26 "" esv275560 1 34891253 34894026 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585833,essv2586164 M 1250 1 1 "" esv29315 1 34954800 34956844 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16964 S 451 1 0 "" NA06985 esv1494656 1 35015905 35015905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784790 S 2 1 0 "" HuRef esv1201116 1 35015937 35015937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176670 S 2 1 0 "" HuRef esv1003104 1 35028945 35033854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565781 S 3 0 1 GJA4 HuRef esv4188 1 35040365 35040824 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26629 S 1 0 1 Single Asian sample YH "" YH esv23746 1 35073744 35074245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21340 S 451 0 1 "" NA12749 dgv213n71 1 35157192 35235074 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871268,nsv871926 M 6533 0 3 LOC653160,ZMYM6,ZMYM6NB SP54043,SP54956,SP57469 nsv870757 1 35157192 35709449 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558432 S 6533 1 0 KIAA0319L,LOC653160,SFPQ,ZMYM1,ZMYM4,ZMYM6,ZMYM6NB MS23257 esv270039 1 35180401 35180667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508515 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12717 nsv411 1 35181003 35213514 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2058 S 9 1 0 "" NA18555 nsv511093 1 35228973 35254861 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624359 S 4 0 0 ZMYM6 NA18994 nsv508138 1 35235115 35254861 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620128 S 4 0 1 ZMYM6 NA15510 esv2448755 1 35287381 35289073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242554 S 1 0 1 "" NA18507 esv2012538 1 35288122 35289061 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802032 S 1 0 1 "" NA18507 nsv422 1 35352348 35356053 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2066 S 9 1 0 ZMYM1 NA18555 nsv509191 1 35361726 35409283 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617993 S 4 1 0 "" CHM nsv512736 1 35395196 35395413 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625362 S 1 1 0 "" 1 esv1688473 1 35395258 35395258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937525 S 2 1 0 "" HuRef nsv508149 1 35425375 35523857 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618971 S 4 0 1 SFPQ,ZMYM4 NA10860 nsv818134 1 35482364 35514250 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417263 S 112 0 1 ZMYM4 NA18593 nsv870976 1 35482364 35655246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579786 S 6533 0 1 ZMYM4 IS35181 nsv822287 1 35553084 35553673 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423955 S 31 1 0 ZMYM4 NA18582 esv8737 1 35569598 35569664 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31178 S 1 1 0 ZMYM4 SJK nsv822298 1 35587625 35588785 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436334 S 31 0 1 ZMYM4 NA18542 esv32554 1 35656892 35666141 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100050 S 51 0 1 ZMYM4 22086 esv33735 1 35671707 35672683 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99911 S 51 1 0 KIAA0319L 22086 nsv870679 1 35796375 35819589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509743 S 6533 0 1 NCDN,TFAP2E SP54956 nsv433 1 35820645 35865600 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9000 S 9 0 1 PSMB2,TFAP2E NA12156 nsv871396 1 35888978 36425206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558433 S 6533 1 0 ADPRHL2,C1orf216,CLSPN,COL8A2,EIF2C1,EIF2C3,EIF2C4,MAP7D1,TEKT2,TRAPPC3 MS23257 nsv834680 1 35898809 36130404 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444551 S 95 1 0 C1orf216,CLSPN,EIF2C1,EIF2C4 nsv525430 1 36014615 36098783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701556 S 2026 0 1 EIF2C4 nsv524683 1 36067219 36098783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700654 S 2026 0 1 EIF2C4 nsv526837 1 36140367 36152720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703194 S 2026 0 1 EIF2C1 dgv214n71 1 36194128 36226603 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871096,nsv870949 M 6533 0 2 EIF2C3 SP56047,SP57472 nsv871752 1 36194128 36242188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505534 S 6533 0 1 EIF2C3 SP53687 esv269453 1 36247246 36247507 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530504,essv2520845,essv2552469,essv2539106,essv2569698,essv2544706,essv2523858,essv2552982,essv2541246,essv2538187,essv2542777,essv2540400,essv2524667,essv2564797,essv2534872,essv2539843,essv2549515,essv2519629,essv2560064,essv2522145,essv2565942,essv2531216,essv2532494,essv2528796,essv2567345,essv2541814,essv2570089,essv2535805,essv2572299,essv2559256,essv2566874,essv2543664,essv2556182,essv2528146,essv2562282,essv2534007,essv2533522,essv2567165,essv2566409,essv2530084,essv2573760,essv2527554,essv2556087,essv2534403,essv2522532,essv2531283,essv2573417,essv2543157,essv2577035,essv2571986,essv2526966,essv2538552,essv2560938,essv2574708,essv2549743,essv2571400,essv2574254 M 157 57 0 Samples from several populations that are part of the HapMap project. EIF2C3 NA18486,NA18498,NA18502,NA18519,NA18520,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19108,NA19137,NA19138,NA19225,NA19238,NA19240 esv273679 1 36247248 36247434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579335 S 7 1 0 Samples from several populations that are part of the HapMap project. EIF2C3 NA19239 nsv159158 1 36247282 36247282 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177736 M 24 EIF2C3 nsv518844 1 36269936 36304903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694280 S 2026 0 1 EIF2C3 nsv834691 1 36297325 36476728 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444573,nssv1444562 M 95 0 2 ADPRHL2,COL8A2,MAP7D1,TEKT2,THRAP3,TRAPPC3 nsv871804 1 36307231 36399778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573163 S 6533 0 1 ADPRHL2,COL8A2,MAP7D1,TEKT2,TRAPPC3 IS33248 nsv870558 1 36350532 36425206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585790 S 6533 0 1 MAP7D1,TRAPPC3 IS37646 nsv10106 1 36373014 36389894 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13748 S 31 1 0 Samples from several populations that are part of the HapMap project. TRAPPC3 NA12155 dgv47e1 1 36392726 36659675 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv129,essv24512 M 271 0 0 FAM176B,LSM10,MAP7D1,OSCP1,SH3D21,STK40,THRAP3 NA12802 nsv871426 1 36402489 36417700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509037 S 6533 0 1 MAP7D1 SP54672 nsv834702 1 36428818 36629919 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444584 S 95 0 1 FAM176B,SH3D21,STK40,THRAP3 nsv159975 1 36442938 36447154 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178553 M 24 "" esv1470236 1 36448916 36448916 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103019 S 2 1 0 "" HuRef esv2544592 1 36505647 36507205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335271 S 1 0 1 THRAP3 NA18507 esv2045078 1 36505769 36506259 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505438 S 1 0 1 THRAP3 NA18507 esv2125715 1 36521628 36522091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852306 S 1 0 1 THRAP3 NA18507 esv1002750 1 36521805 36521856 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579615 S 3 0 1 THRAP3 HuRef esv1414937 1 36521856 36521908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244589 S 2 0 1 THRAP3 HuRef nsv160040 1 36521857 36521908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178618 M 24 THRAP3 nsv444 1 36523762 36568167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2067 S 9 0 1 FAM176B,SH3D21,THRAP3 NA18555 nsv524394 1 36562133 36620353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700312 S 2026 0 1 FAM176B,STK40 nsv509202 1 36671474 36728356 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619791 S 4 1 0 CSF3R,MRPS15,OSCP1 NA10860 nsv461073 1 36697263 36733213 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537522 S 1557 0 1 CSF3R,MRPS15 1780862529_A nsv520839 1 36700320 36748840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697643 S 2026 0 1 CSF3R,MRPS15 esv1178181 1 36782350 36782418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795450 S 2 0 1 "" HuRef nsv509213 1 36797080 36870829 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619792 S 4 1 0 "" NA10860 nsv871688 1 36846938 37192428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522602 S 6533 0 1 GRIK3 SP53280 nsv870454 1 36878460 37008208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514386 S 6533 0 1 "" SP56004 nsv455 1 36900295 36933595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9005 S 9 1 0 "" NA12156 esv1494805 1 36938559 36938652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894677 S 2 0 1 "" HuRef esv271040 1 36984224 36984580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517066,essv2515676 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12815 esv271799 1 36988365 36988702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558151,essv2565749,essv2541010,essv2571790,essv2546305,essv2525871,essv2542223,essv2536577,essv2544131,essv2571068,essv2568160,essv2545531,essv2523420,essv2531855,essv2577583,essv2548545,essv2521568,essv2550682,essv2554257,essv2544403,essv2552045,essv2520717,essv2547345,essv2529289,essv2558594,essv2577934,essv2553709,essv2559573,essv2564165,essv2554885,essv2561947,essv2537293,essv2546852,essv2544634,essv2562881,essv2523918,essv2541144,essv2538281,essv2540423,essv2561131,essv2539617,essv2519788,essv2522016,essv2531244,essv2567561,essv2541761,essv2570311,essv2535520,essv2572450,essv2559253,essv2539375,essv2578446,essv2573140,essv2529894,essv2527628,essv2557589,essv2522379,essv2574604,essv2545905,essv2548865,essv2532994,essv2547740,essv2563398 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12155,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12828,NA12872,NA12874,NA12878,NA12892,NA18526,NA18532,NA18537,NA18545,NA18547,NA18552,NA18562,NA18563,NA18566,NA18571,NA18573,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18912,NA18940,NA18942,NA18949,NA18952,NA18953,NA18960,NA19138,NA19239 esv274463 1 36988365 36988702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581807,essv2582809,essv2584512 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 nsv871864 1 37026888 37145553 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558434 S 6533 1 0 GRIK3 MS23257 esv2477261 1 37031693 37032214 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280316 S 1 1 0 "" NA18507 nsv834713 1 37117119 37281540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444595 S 95 1 0 GRIK3 nsv522473 1 37175999 37188856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705838 S 2026 0 1 GRIK3 esv2553528 1 37194989 37198175 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325318 S 1 0 1 GRIK3 NA18507 esv2538711 1 37195105 37195892 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264336 S 1 1 0 GRIK3 NA18507 esv1102722 1 37195642 37195642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046400 S 2 1 0 GRIK3 HuRef esv3151 1 37195932 37196389 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25592 S 1 0 1 Single Asian sample YH GRIK3 YH esv2459868 1 37196379 37199082 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370743 S 1 0 1 GRIK3 NA18507 esv2906 1 37196734 37198627 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25347 S 1 0 1 Single Asian sample YH GRIK3 YH esv23328 1 37196768 37198598 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10789 S 451 0 5 GRIK3 NA11931,NA12828,NA18511,NA18517,NA19240 nsv821045 1 37196768 37198598 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420303 S 1 1 0 GRIK3 NA10851 esv7566 1 37196837 37198368 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30007 S 1 0 1 GRIK3 SJK nsv870498 1 37204767 37321060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522603 S 6533 0 1 GRIK3 SP53280 nsv466 1 37224605 37269238 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9013 S 9 0 1 GRIK3 NA12156 nsv834724 1 37281599 37442774 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444606 S 95 1 0 MIR4255 nsv509224 1 37306794 37427815 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619793 S 4 1 0 MIR4255 NA10860 nsv511689 1 37360718 37365223 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626328 S 1 0 1 "" 1 nsv871545 1 37390396 37516530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522604 S 6533 0 1 MIR4255 SP53280 nsv521436 1 37408091 37456506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698046 S 2026 0 1 "" nsv477 1 37429025 37474144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9019 S 9 0 1 "" NA12156 esv269206 1 37459718 37459803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514074 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv488 1 37465939 37499591 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1081 S 9 1 0 "" NA19240 nsv834735 1 37519245 37681373 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444629,nssv1444617 M 95 0 2 "" nsv499 1 37578710 37589060 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4120 S 9 1 0 "" NA12878 dgv32n67 1 37588994 37590035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822309,nsv822320 M 31 2 0 "" AK4,NA18570 esv4797 1 37589017 37589379 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27238 S 1 0 1 Single Asian sample YH "" YH esv5617 1 37589054 37589307 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28058 S 1 0 1 "" SJK nsv160102 1 37589061 37589299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178680 M 24 "" nsv519697 1 37637498 37638930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696998 S 2026 0 1 "" esv2574190 1 37684179 37684696 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390348 S 1 1 0 "" NA18507 nsv519551 1 37729963 37747866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684557,nssv656832 M 2026 2 0 MEAF6 nsv524834 1 37734200 37824172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700835 S 2026 1 0 DNALI1,GNL2,MEAF6,SNIP1 nsv834746 1 37775539 37939913 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444640 S 95 0 1 C1orf109,CDCA8,DNALI1,GNL2,RSPO1,SNIP1 esv988200 1 37848507 37848963 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564472 S 3 1 0 "" HuRef esv3503 1 37849886 37850106 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25944 S 1 0 1 Single Asian sample YH RSPO1 YH esv992523 1 37849936 37850006 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585401 S 3 0 1 RSPO1 HuRef nsv160858 1 37849937 37850007 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179436 M 24 RSPO1 nsv527629 1 37894521 37899741 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704097 S 2026 0 1 "" nsv819737 1 37919829 37920400 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419008 S 2 0 1 C1orf109 AK1 nsv519553 1 37961428 37965124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658587,nssv678161,nssv676228,nssv694242,nssv656833 M 2026 0 5 EPHA10 nsv525226 1 37961428 38000803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701315 S 2026 0 1 EPHA10 nsv871810 1 37980587 38051166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509744,nssv1511313 M 6533 0 2 C1orf122,EPHA10,MANEAL,MTF1,YRDC SP54956,SP55021 esv2276987 1 37980649 37981175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970243 S 1 0 1 EPHA10 NA18507 esv1005346 1 37980833 37980995 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581260 S 3 0 1 EPHA10 HuRef esv994797 1 38011913 38013559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565333 S 3 1 0 "" HuRef nsv870730 1 38044082 38207506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592575 S 6533 1 0 C1orf122,INPP5B,MTF1,SF3A3,YRDC IS39243 nsv510 1 38052636 38118191 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5491,nssv1091 M 9 2 0 INPP5B,MTF1 NA19129,NA19240 nsv506927 1 38055332 38061332 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623268,nssv620652,nssv619232 M 4 3 0 MTF1 NA10860,NA15510,NA18994 esv1640356 1 38135235 38135284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871016 S 2 0 1 INPP5B HuRef nsv822331 1 38201189 38202698 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430339 S 31 0 1 SF3A3 AK16 esv267758 1 38220266 38220351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515607 S 157 1 0 Samples from several populations that are part of the HapMap project. SF3A3 NA12815 nsv522 1 38265239 38299785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2925 S 9 1 0 POU3F1 NA18555 nsv521856 1 38265491 38272230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694630 S 2026 0 1 "" esv259740 1 38356256 38356613 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395526,essv2397876,essv2398831 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA18577,NA18582 esv26787 1 38375147 38377167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21222 S 451 0 1 "" NA12828 nsv441687 1 38414624 38417452 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv24918 1 38414777 38417685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11024 S 451 0 1 "" NA18523 nsv519358 1 38443993 38445830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694325 S 2026 0 1 "" nsv834757 1 38449737 38643479 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444651 S 95 1 0 LOC339442 nsv533 1 38461115 38475672 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9028 S 9 0 1 "" NA12156 nsv544 1 38478334 38484938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5499 S 9 1 0 "" NA19129 nsv834768 1 38534331 38725549 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444662 S 95 1 0 "" nsv517641 1 38622926 38625611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688984,nssv693048,nssv694835,nssv684558,nssv652648,nssv685154 M 2026 6 0 "" nsv521479 1 38694640 38701079 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694450 S 2026 1 0 "" esv1309666 1 38723326 38723326 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833922 S 2 1 0 "" HuRef nsv555 1 38755445 38790436 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4141 S 9 1 0 "" NA12878 nsv511145 1 38854416 38860191 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625711 S 1 0 1 "" 1 nsv508008 1 38855197 38861197 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618492 S 4 0 1 "" CHM nsv511690 1 38856518 38858543 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626329 S 1 0 1 "" 1 dgv33n67 1 38856775 38858166 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822365,nsv822342 M 31 0 5 "" AK18,AK6,NA18526,NA18582,NA18947 nsv822353 1 38856775 38859071 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431803 S 31 0 1 "" AK20 nsv820218 1 38856803 38859937 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419512 S 2 0 1 "" AK1 esv27536 1 38856971 38858162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15624 S 451 0 2 "" NA06985,NA18858 nsv871799 1 38857823 38931687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558435 S 6533 1 0 "" MS23257 nsv10117 1 38900923 38910933 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18773 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 dgv34n67 1 38901080 38909934 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822376,nsv822387 M 31 0 2 "" NA18968,NA18972 dgv48e1 1 38901188 38910242 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2944,essv3576,esv1377,essv1696 M 271 0 0 "" NA18968,NA18972,NA18987 nsv441688 1 38901191 38908792 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514925 1 38901296 38908796 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628446 S 1414 0 0 "" nsv818145 1 38907229 38909659 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417575 S 112 0 1 "" NA18972 nsv461095 1 38907467 38944875 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537543 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00157 nsv526972 1 39021300 39023551 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703344 S 2026 1 0 "" esv23679 1 39067668 39068178 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13960 S 451 0 1 "" NA18861 nsv871872 1 39137204 39224444 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558436 S 6533 1 0 RHBDL2 MS23257 nsv435884 1 39150888 39157686 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465940 S 2 0 1 RHBDL2 NA15510 nsv518731 1 39168470 39169011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696181 S 2026 0 1 RHBDL2 esv1002936 1 39183001 39184768 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564723 S 3 1 0 "" HuRef nsv512737 1 39184060 39184303 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625363 S 1 1 0 "" 1 esv1242325 1 39184116 39184116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051569 S 2 1 0 "" HuRef esv23536 1 39205732 39213224 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20704 S 451 0 1 "" NA18502 esv1254825 1 39282829 39282829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621833 S 2 1 0 "" HuRef esv22317 1 39306877 39309244 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17982 S 451 1 0 "" NA18858 nsv870829 1 39330798 39817300 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558437 S 6533 1 0 BMP8A,KIAA0754,MACF1,PABPC4,PPIEL,SNORA55 MS23257 nsv515793 1 39343798 39351119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693049,nssv657487,nssv694005,nssv678265,nssv692912,nssv664813 M 2026 0 6 MACF1 esv32941 1 39376424 39377309 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99758 S 51 0 1 MACF1 22086 esv267452 1 39450224 39450309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519139,essv2518343 M 157 2 0 Samples from several populations that are part of the HapMap project. MACF1 NA19141,NA19240 esv273398 1 39450224 39450309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581207 S 7 1 0 Samples from several populations that are part of the HapMap project. MACF1 NA19240 esv268462 1 39500552 39500637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517157 S 157 1 0 Samples from several populations that are part of the HapMap project. MACF1 hapmap_pooled_sample_set nsv820058 1 39561057 39562375 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419235 S 2 0 1 MACF1 AK1 nsv506928 1 39584479 39590479 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620653 S 4 1 0 MACF1 NA15510 esv1294628 1 39715394 39715394 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974442 S 2 1 0 MACF1 HuRef nsv871499 1 39717884 39785469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530431 S 6533 0 1 BMP8A,MACF1,PPIEL MS10311 nsv7177 1 39718341 40039877 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10825,nssv6576,nssv5516 M 9 0 0 BMP8A,BMP8B,HEYL,HPCAL4,MACF1,NT5C1A,OXCT2,PABPC4,PPIE,PPIEL,SNORA55 NA12156,NA18956,NA19129 nsv870462 1 39720811 39736460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509745,nssv1511314 M 6533 0 2 BMP8A,MACF1 SP54956,SP55021 esv2268423 1 39734322 39734678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733529 S 1 0 1 BMP8A NA18507 nsv508160 1 39741317 39803133 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617344 S 4 0 1 BMP8A,PABPC4,PPIEL CHM esv1368683 1 39743043 39743043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701537 S 2 1 0 BMP8A HuRef nsv829649 1 39743542 39877101 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444673,nssv1444684 M 95 0 2 BMP8A,HEYL,PABPC4,PPIEL,SNORA55 esv29294 1 39771283 39773791 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13358 S 451 0 1 PPIEL NA18517 nsv566 1 39829045 39862326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9038 S 9 1 0 HEYL NA12156 nsv160826 1 39845318 39845673 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179404 M 24 "" nsv518544 1 39878682 39885197 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695987 S 2026 0 1 "" nsv577 1 39882608 39915099 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2085 S 9 1 0 NT5C1A NA18555 esv2530832 1 39902283 39903196 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307330 S 1 1 0 NT5C1A NA18507 dgv15n27 1 39957320 40079485 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461117,nsv461106 M 1557 2 0 BMP8B,OXCT2,PPIE,TRIT1 1780854592_A,1780862460_A dgv215n71 1 39989580 40060638 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870595,nsv871852 M 6533 0 2 BMP8B,OXCT2,PPIE IS39233,MS10311 dgv49e1 1 39997730 40433019 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv416,essv10251 M 271 0 0 BMP8B,CAP1,MFSD2A,MYCL1,OXCT2,PPIE,PPT1,RLF,TRIT1 NA19152 nsv871927 1 40019571 40040955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509746 S 6533 0 1 BMP8B SP54956 esv6866 1 40042088 40042148 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29307 S 1 1 0 "" SJK nsv159700 1 40161162 40168129 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178278 M 24 "" nsv523913 1 40249388 40271889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699756 S 2026 0 1 "" esv2750836 1 40276366 40331835 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981953,essv6988472 M 771 1 0 CAP1,PPT1 BEC_508 nsv517028 1 40288983 40307654 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671364,nssv651735,nssv663352,nssv653640 M 2026 4 0 CAP1 esv267524 1 40297251 40297336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516585,essv2518166,essv2517296,essv2519116 M 157 4 0 Samples from several populations that are part of the HapMap project. CAP1 NA12814,NA12872,NA18970,NA19141 nsv588 1 40304630 40310137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10831 S 9 1 0 CAP1 NA18956 nsv829660 1 40311291 40504667 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444762,nssv1444695,nssv1444985,nssv1444974,nssv1444963,nssv1444706,nssv1444852,nssv1445074,nssv1444951,nssv1444773,nssv1444839,nssv1445085,nssv1444996,nssv1444728,nssv1444784,nssv1445007,nssv1445018,nssv1445096,nssv1444795,nssv1444863,nssv1444828,nssv1444885,nssv1444918,nssv1444740,nssv1445107,nssv1445062,nssv1445029,nssv1444907,nssv1445040,nssv1445118,nssv1444874,nssv1444806,nssv1444751,nssv1445051,nssv1444717,nssv1444896,nssv1444940,nssv1444817,nssv1445129,nssv1444929 M 95 3 37 PPT1,RLF,TMCO2,ZMPSTE24 nsv10128 1 40320597 40326326 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14094 S 31 0 1 Samples from several populations that are part of the HapMap project. PPT1 NA18975 dgv35n67 1 40324844 40326145 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822409,nsv822398 M 31 0 2 PPT1 AK20,NA18949 esv6823 1 40324923 40326252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29264 S 1 0 1 PPT1 SJK nsv871470 1 40338095 40396860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506573 S 6533 0 1 "" SP54381 nsv521874 1 40408974 40460766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694106 S 2026 0 1 RLF nsv870632 1 40658419 40858513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558438 S 6533 1 0 DEM1,SMAP2,ZNF642,ZNF643,ZNF684 MS23257 esv2597296 1 40733925 40735550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267691 S 1 0 1 ZNF642 NA18507 esv2369794 1 40734768 40735542 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601534 S 1 0 1 "" NA18507 esv2421929 1 40738766 40742251 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095069,essv5031015,essv5043565,essv5003237,essv5076708,essv5039917,essv5040849,essv5005042,essv5072071,essv5050516,essv5149168,essv5028496,essv5096270,essv5130096,essv5056700,essv5102518,essv5110742,essv5112394,essv5154716,essv5030533,essv5118372,essv5062156,essv5138442,essv5046483,essv5090401,essv5115483,essv5047717,essv5035402,essv5018422,essv5150596,essv5152520,essv5016105,essv5015953,essv5054910,essv5032064,essv5060670,essv5084132,essv5004950,essv5071766,essv5016558,essv5134179,essv5107694,essv5005003,essv5016174,essv5021004,essv5015979,essv5145500,essv5074050,essv5058625,essv5073486,essv5088596,essv5086730,essv5123078,essv5004810,essv5075627,essv5048361,essv5047287,essv5130881,essv5155345,essv5008181,essv5024336,essv5067036,essv5064594,essv5008358,essv5101369,essv5010372,essv5071966 M 1184 0 67 "" NA17976,NA17989,NA17990,NA17995,NA18112,NA18124,NA18125,NA18132,NA18141,NA18144,NA18146,NA18150,NA18152,NA18153,NA18497,NA18498,NA18537,NA18546,NA18552,NA18566,NA18593,NA18599,NA18602,NA18620,NA18641,NA18643,NA18682,NA18749,NA18945,NA18951,NA18953,NA18956,NA18973,NA18976,NA18991,NA19009,NA19028,NA19036,NA19044,NA19064,NA19075,NA19087,NA19088,NA19184,NA19190,NA19316,NA19334,NA19429,NA19467,NA19712,NA19982,NA20295,NA21300,NA21311,NA21314,NA21320,NA21359,NA21381,NA21421,NA21423,NA21425,NA21454,NA21479,NA21485,NA21608,NA21613,NA21617 nsv441689 1 40738766 40742251 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25741 1 40739619 40742447 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13150 S 451 0 1 "" NA19190 nsv819581 1 40740139 40743009 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419486 S 2 0 1 "" AK1 nsv822420 1 40740783 40742603 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437935,nssv1428822,nssv1435651,nssv1426386,nssv1439454,nssv1438584,nssv1422367 M 31 0 7 "" AK12,AK6,NA18537,NA18552,NA18566,NA18951,NA18973 nsv513986 1 40740984 40742464 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628069 S 1414 0 1 "" nsv871000 1 40748845 40780846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519421 S 6533 0 1 DEM1,ZNF684 SP81024 esv28574 1 40793794 40801068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10486,esv19467 M 451 0 7 "" NA11894,NA12239,NA12414,NA18502,NA18508,NA18858,NA18916 nsv160971 1 40794272 40801210 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179549 M 24 "" nsv822431 1 40794289 40798568 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431068,nssv1429558 M 31 0 2 "" AK14,AK18 nsv516619 1 40794563 40799336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672519,nssv666888,nssv671657,nssv680334,nssv667789,nssv653231,nssv690948,nssv690433,nssv662673,nssv672295,nssv673153,nssv691007,nssv689534,nssv654770,nssv664864,nssv684450,nssv689850,nssv666582,nssv663616 M 2026 0 19 "" esv2422112 1 40794563 40800797 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133217,essv5052522,essv5100900,essv5015947,essv5052971,essv5008069,essv5078272,essv5104421,essv5019620,essv5093829,essv5003557,essv5057086,essv5122132,essv5151269,essv5126113,essv5024231,essv5116017,essv5092961,essv5054587,essv5157454,essv5073338,essv5129017,essv5024924,essv5099601,essv5137735,essv5012822,essv5070027,essv5144190,essv5136892,essv5078884,essv5008872,essv5013734,essv5006452,essv5156571,essv5053793,essv5088566,essv5153128,essv5146960,essv5110834,essv5042242,essv5069345,essv5012360,essv5096588,essv5152021,essv5133407,essv5126297,essv5009795,essv5067020,essv5085310,essv5140216,essv5093420,essv5044603,essv5016126,essv5082042,essv5090744,essv5071010,essv5071215,essv5144533,essv5160165,essv5065815,essv5034771,essv5124055,essv5045578,essv5013688,essv5135793,essv5154458,essv5011762,essv5074853,essv5085094,essv5057629,essv5014732,essv5052721,essv5055084,essv5062938,essv5148005,essv5104203,essv5018970,essv5134182,essv5118069,essv5122140,essv5144927,essv5090030 M 1184 0 82 "" NA10863,NA11894,NA12234,NA12239,NA12248,NA12264,NA12336,NA12341,NA12343,NA12716,NA12812,NA12815,NA17972,NA17983,NA18149,NA18498,NA18500,NA18503,NA18504,NA18506,NA18508,NA18518,NA18519,NA18544,NA18562,NA18594,NA18610,NA18636,NA18670,NA18853,NA18854,NA18858,NA18860,NA18916,NA18965,NA18976,NA18990,NA19078,NA19149,NA19315,NA19372,NA19445,NA19451,NA19656,NA19676,NA19761,NA19762,NA19763,NA19771,NA19772,NA19774,NA19788,NA19904,NA19915,NA19985,NA20127,NA20128,NA20334,NA20335,NA20336,NA20337,NA20510,NA20515,NA20521,NA20535,NA20756,NA20816,NA20849,NA20874,NA20877,NA20882,NA20884,NA20885,NA21101,NA21105,NA21123,NA21297,NA21301,NA21352,NA21473,NA21631,NA21685 esv2409848 1 40796688 40797064 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750530 S 1 0 1 "" NA18507 nsv599 1 40853155 40886520 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9047 S 9 0 1 RIMS3 NA12156 esv8923 1 40993249 40993323 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31364 S 1 1 0 NFYC SJK nsv610 1 40996458 41028137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9053 S 9 1 0 KCNQ4,NFYC NA12156 nsv870531 1 41013106 41073606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509747 S 6533 0 1 KCNQ4 SP54956 dgv16n27 1 41116195 41156425 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461150,nsv461206,nsv461272,nsv461228,nsv461195,nsv461161,nsv461261,nsv461295,nsv461173,nsv461217,nsv461284,nsv461239,nsv461250,nsv461184,nsv461328,nsv461139,nsv461306 M 1557 17 0 "" 1780854436_A,1780862125_A,1780862346_A,1780862443_A,1780862551_A,1798860192_A,1798860336_A,HGDP00082,HGDP00319,HGDP00513,HGDP00614,HGDP00624,HGDP00628,HGDP01153,NINDS_18,NINDS_238,NINDS_98 dgv216n71 1 41116195 41156425 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870897,nsv871586 M 6533 2 0 "" IS34896,IS40226 esv29727 1 41119009 41153575 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18639 S 451 1 0 "" NA12004 nsv441690 1 41119794 41149087 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470710 1 41119815 41147029 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547726,nssv547727,nssv547728 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00614,HGDP00615,HGDP00628 nsv516272 1 41119815 41147030 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667238,nssv654797,nssv689447,nssv679939 M 2026 4 0 "" nsv818156 1 41119815 41147030 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417960,nssv1417961 M 112 2 0 "" NA07348,NA07357 nsv461339 1 41127268 41146737 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537738 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00615 nsv522723 1 41164805 41168285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698354 S 2026 0 1 "" nsv159614 1 41171348 41172556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178192 M 24 "" nsv621 1 41236609 41250124 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9060 S 9 0 1 CTPS NA12156 esv269066 1 41275273 41281303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562558,essv2560792,essv2572912 M 157 3 0 Samples from several populations that are part of the HapMap project. LOC100507178,SCMH1 NA18507,NA19116,NA19143 esv24588 1 41344450 41345732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9763 S 451 0 2 MIR5095,SCMH1 NA18517,NA19225 nsv519146 1 41354593 41365585 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696623 S 2026 1 0 MIR5095,SCMH1 esv2571087 1 41432700 41434023 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206154 S 1 0 1 MIR5095,SCMH1 NA18507 esv22527 1 41534563 41538300 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13787 S 451 0 1 "" NA19240 esv2643183 1 41576653 41578248 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299791 S 1 0 1 "" NA18507 nsv508171 1 41577470 41747267 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622762 S 4 0 1 EDN2 NA18994 nsv871964 1 41583187 41633970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546460 S 6533 0 1 "" MS17208 nsv524868 1 41633970 41634712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700873 S 2026 0 1 "" nsv871918 1 41644665 41774418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546461 S 6533 0 1 EDN2,HIVEP3 MS17208 esv2627113 1 41663054 41663789 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205147 S 1 1 0 "" NA18507 nsv870508 1 41689615 41725184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530433 S 6533 0 1 EDN2 MS10311 nsv870806 1 41689615 41774418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543361 S 6533 0 1 EDN2,HIVEP3 MS16153 nsv870871 1 41708037 41764014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585791 S 6533 0 1 EDN2,HIVEP3 IS37646 nsv633 1 41718085 41763205 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9065 S 9 0 1 EDN2,HIVEP3 NA12156 nsv525172 1 41720331 41725495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701248 S 2026 0 1 EDN2 nsv461350 1 41720331 41743799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537744 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EDN2 HGDP00433 nsv871298 1 41725495 41774418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592104 S 6533 0 1 HIVEP3 IS39233 esv2027172 1 41727898 41728364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601976 S 1 0 1 "" NA18507 esv21529 1 41764057 41770571 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11297 S 451 1 0 HIVEP3 NA06985 esv2229339 1 41766569 41766983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855638 S 1 0 1 HIVEP3 NA18507 nsv644 1 41779742 41813245 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9073 S 9 1 0 HIVEP3 NA12156 esv1639858 1 41783211 41783211 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702696 S 2 1 0 HIVEP3 HuRef nsv518313 1 41844025 41847854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695744 S 2026 0 1 HIVEP3 nsv655 1 41866559 41899052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2095 S 9 1 0 HIVEP3 NA18555 esv2174819 1 41873634 41874086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943981 S 1 0 1 HIVEP3 NA18507 esv1535775 1 41873876 41873932 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994813 S 2 0 1 HIVEP3 HuRef nsv461361 1 41937718 41971163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537752 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HIVEP3 HGDP00553 nsv517842 1 42034476 42043750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695246 S 2026 0 1 HIVEP3 nsv666 1 42063237 42074543 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9081 S 9 0 1 HIVEP3 NA12156 nsv871130 1 42103172 42402951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558439 S 6533 1 0 GUCA2A,GUCA2B,HIVEP3 MS23257 esv27848 1 42138620 42139210 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19802 S 451 1 0 HIVEP3 NA11993 nsv677 1 42149652 42183227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5517 S 9 1 0 HIVEP3 NA19129 esv268727 1 42162865 42163207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556463,essv2521526,essv2576728,essv2520162,essv2555101,essv2573344,essv2571968,essv2526852 M 157 8 0 Samples from several populations that are part of the HapMap project. HIVEP3 NA11994,NA12144,NA12154,NA12815,NA12872,NA18964,NA18973,NA19005 esv268819 1 42186972 42187057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519079 S 157 1 0 Samples from several populations that are part of the HapMap project. HIVEP3 NA19141 nsv829671 1 42193632 42353185 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445140 S 95 0 1 HIVEP3 nsv871861 1 42283966 42344026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588757,nssv1598890,nssv1564762 M 6533 0 3 "" IS30295,IS38241,IS41042 nsv519479 1 42289357 42362690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671865,nssv656348 M 2026 2 0 "" nsv527531 1 42389619 42408092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703990 S 2026 0 1 GUCA2A,GUCA2B nsv688 1 42406455 42441058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2935 S 9 1 0 FOXJ3 NA18555 esv24371 1 42421525 42425424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12093 S 451 0 1 FOXJ3 NA18502 nsv871007 1 42430994 42560119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506574 S 6533 0 1 FOXJ3 SP54381 esv22111 1 42459429 42461747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13732 S 451 0 1 FOXJ3 NA12828 esv2539470 1 42515199 42516854 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294377 S 1 0 1 FOXJ3 NA18507 esv270402 1 42541146 42541510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509027,essv2513389,essv2506834,essv2498854 M 157 4 0 Samples from several populations that are part of the HapMap project. FOXJ3 NA18522,NA18907,NA19102,NA19138 nsv870704 1 42570791 42780605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588588 S 6533 1 0 CCDC30,FOXJ3,PPCS,RIMKLA,ZMYND12 IS38219 nsv822442 1 42610588 42611703 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432074 S 31 0 1 "" NA18972 esv28389 1 42627770 42630321 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16457 S 451 0 2 RIMKLA NA07045,NA18907 esv2480910 1 42773311 42774490 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298591 S 1 1 0 CCDC30 NA18507 esv1025473 1 42773977 42773977 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104528 S 2 1 0 CCDC30 HuRef nsv829682 1 42827687 43011826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445151 S 95 0 1 C1orf50,CCDC30,CLDN19,LEPRE1,PPIH,YBX1 nsv822453 1 42875097 42875537 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423441 S 31 0 1 CCDC30 NA18968 esv2520511 1 42886217 42887782 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390935 S 1 0 1 CCDC30 NA18507 esv272728 1 43055845 43055992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584284,essv2583723 M 7 2 0 Samples from several populations that are part of the HapMap project. ERMAP NA19238,NA19240 nsv871947 1 43063648 43080219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499637 S 6533 0 1 ERMAP SP50066 nsv870981 1 43075102 43080219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502629 S 6533 0 1 ERMAP SP51307 nsv870684 1 43075558 43078340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516585 S 6533 0 1 ERMAP SP56874 nsv461372 1 43128798 43133087 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537763 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01029 esv7082 1 43142867 43143097 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29523 S 1 0 0 "" SJK nsv699 1 43145051 43179097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4150 S 9 1 0 SLC2A1 NA12878 esv2624629 1 43156835 43158509 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304199 S 1 0 1 "" NA18507 esv2054916 1 43157111 43157797 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647796 S 1 0 1 "" NA18507 nsv710 1 43307707 43352508 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9088 S 9 0 1 "" NA12156 nsv522391 1 43319407 43348908 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695171 S 2026 1 0 "" nsv518211 1 43331524 43368971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695634 S 2026 0 1 "" nsv519062 1 43361485 43379318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696534 S 2026 0 1 "" nsv829693 1 43367715 43551235 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445162 S 95 0 1 C1orf210,EBNA1BP2,FAM183A,TIE1,TMEM125,WDR65 nsv461383 1 43436706 43468295 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537771 S 1557 0 1 WDR65 1780854205_A esv2565866 1 43466103 43468993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306304 S 1 0 1 WDR65 NA18507 esv27491 1 43466330 43468121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11904 S 451 0 7 WDR65 NA11894,NA11993,NA18511,NA18861,NA18909,NA19190,NA19225 esv2148585 1 43466457 43468322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810378 S 1 0 1 WDR65 NA18507 nsv822464 1 43466498 43468023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421449,nssv1423957,nssv1432086,nssv1437574,nssv1439455,nssv1422368 M 31 0 6 WDR65 NA18537,NA18547,NA18552,NA18582,NA18972,NA18997 nsv822476 1 43467483 43468023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424733,nssv1429559,nssv1425493,nssv1423113 M 31 0 4 WDR65 AK14,AK2,AK4,NA18999 nsv523115 1 43472557 43478548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698814 S 2026 0 1 WDR65 nsv508009 1 43503846 43509846 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624209 S 4 0 1 TMEM125 NA18994 nsv508010 1 43611755 43617755 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624210,nssv618493,nssv621466 M 4 0 3 "" CHM,NA15510,NA18994 esv1418115 1 43613210 43613816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247016 S 2 0 1 "" HuRef esv270510 1 43614893 43615254 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513483,essv2511984,essv2498262 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19238,NA19240 esv272628 1 43614965 43615290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584031,essv2583299 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv2560782 1 43629682 43631172 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319973 S 1 0 1 SZT2 NA18507 esv2400702 1 43629867 43630578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603718 S 1 0 1 SZT2 NA18507 esv3099 1 43629979 43630451 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25540 S 1 0 1 Single Asian sample YH SZT2 YH nsv159253 1 43630058 43630393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177831 M 24 SZT2 esv5810 1 43630059 43630380 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28251 S 1 0 1 SZT2 SJK nsv527798 1 43685177 43689996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704290 S 2026 0 1 HYI,SZT2 nsv438377 1 43689996 43706276 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470629,nssv470518 M 269 0 2 Samples from several populations that are part of the HapMap project. HYI,SZT2 NA18853,NA18854 nsv871794 1 43755114 43895778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553928 S 6533 0 1 KDM4A,PTPRF MS20440 nsv519570 1 43777867 43844653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705110,nssv656910,nssv675620,nssv703017,nssv673331,nssv657034,nssv682477,nssv686669,nssv660985,nssv674625,nssv662069 M 2026 0 11 PTPRF esv2600447 1 43831811 43832591 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210869 S 1 0 0 PTPRF NA18507 esv7506 1 43831894 43832237 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29947 S 1 0 0 PTPRF SJK nsv513636 1 43831937 43834411 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626888 S 1 0 0 PTPRF 1 nsv822487 1 43861011 43861471 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431805 S 31 0 1 PTPRF AK20 nsv159510 1 43864440 43866796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178088 M 24 "" esv21836 1 43868154 43879863 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11621 S 451 1 0 "" NA18505 nsv441691 1 43868287 43878235 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv436807 1 43870339 43877271 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465951 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv271803 1 43981467 43981807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517529,essv2515700,essv2517882,essv2513710 M 157 4 0 Samples from several populations that are part of the HapMap project. ST3GAL3 NA07347,NA11918,NA12815,NA12878 esv272953 1 43981467 43981807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581382 S 7 1 0 Samples from several populations that are part of the HapMap project. ST3GAL3 NA12878 nsv721 1 44077053 44110963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1100 S 9 1 0 ST3GAL3 NA19240 esv29502 1 44109897 44110617 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18772 S 451 1 0 ST3GAL3 NA06985 esv268603 1 44126055 44126408 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511897,essv2509663,essv2507445,essv2506832,essv2509532 M 157 5 0 Samples from several populations that are part of the HapMap project. ST3GAL3 NA18499,NA18508,NA18912,NA19102,NA19129 esv1002363 1 44142591 44144938 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586329 S 3 1 0 ST3GAL3 HuRef esv1721659 1 44143401 44143625 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901337 S 2 0 1 ST3GAL3 HuRef esv1735166 1 44143642 44143934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254684 S 2 0 1 ST3GAL3 HuRef nsv870942 1 44152544 44190217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509748 S 6533 0 1 ARTN,IPO13,ST3GAL3 SP54956 nsv870606 1 44201489 44274750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543362,nssv1592105,nssv1549609 M 6533 0 3 ATP6V0B,B4GALT2,CCDC24,DPH2,IPO13,SLC6A9 IS39233,MS16153,MS18276 dgv217n71 1 44208887 44223774 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871307,nsv870721 M 6533 0 3 ATP6V0B,B4GALT2,DPH2 SP54725,SP54956,SP55021 nsv732 1 44214949 44231058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10840 S 9 1 0 ATP6V0B,B4GALT2,CCDC24 NA18956 nsv822498 1 44215549 44216234 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436335 S 31 1 0 ATP6V0B NA18542 nsv519538 1 44240822 44241618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661267,nssv656769,nssv681965 M 2026 0 3 SLC6A9 nsv829704 1 44259986 44425691 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445429,nssv1445362,nssv1445296,nssv1445407,nssv1445351,nssv1445207,nssv1445240,nssv1445273,nssv1445395,nssv1445196,nssv1445384,nssv1445329,nssv1445284,nssv1445218,nssv1445251,nssv1445318,nssv1445173,nssv1445418,nssv1445262,nssv1445307,nssv1445340,nssv1445373,nssv1445440,nssv1445185,nssv1445229 M 95 0 25 KLF17,SLC6A9 esv2380455 1 44377166 44378056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752515 S 1 0 1 "" NA18507 esv1004979 1 44378541 44378624 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574385 S 3 0 1 "" HuRef esv1447929 1 44378586 44378670 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352804 S 2 0 1 "" HuRef nsv158965 1 44439324 44439324 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177543 M 24 "" esv998002 1 44468291 44474125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565736 S 3 0 1 ERI3 HuRef nsv508011 1 44472662 44478662 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618494 S 4 0 1 ERI3 CHM esv269527 1 44477348 44477433 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514507 S 157 1 0 Samples from several populations that are part of the HapMap project. ERI3 NA11840 nsv829715 1 44544896 44720377 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445484,nssv1445506,nssv1445518,nssv1445529,nssv1445584,nssv1445562,nssv1445551,nssv1445462,nssv1445573,nssv1445595,nssv1445451,nssv1445606,nssv1445617,nssv1445629,nssv1445640,nssv1445651,nssv1445495,nssv1445662,nssv1445540,nssv1445473 M 95 20 0 ERI3,RNF220 esv24567 1 44548961 44549591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10275 S 451 0 1 ERI3 NA18858 nsv514926 1 44593744 44595352 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628448 S 1414 0 0 "" esv272555 1 44629918 44630003 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581147 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv461395 1 44671585 44892552 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537782 S 1557 1 0 RNF220,TMEM53 1780854105_A esv272636 1 44706354 44706756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580894,essv2579576 M 7 2 0 Samples from several populations that are part of the HapMap project. RNF220 NA19238,NA19240 esv267525 1 44706372 44706711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516772,essv2517486,essv2517091,essv2514729,essv2518557,essv2516835,essv2518880,essv2519435,essv2513621 M 157 9 0 Samples from several populations that are part of the HapMap project. RNF220 NA07346,NA07347,NA11881,NA11918,NA11931,NA12234,NA12287,NA12892,NA19239 esv1005212 1 44745160 44758261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565520 S 3 0 1 RNF220 HuRef nsv744 1 44752367 44785836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4160 S 9 1 0 RNF220 NA12878 esv24516 1 44794057 44794784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10403 S 451 0 1 RNF220 NA19129 esv1001605 1 44855698 44860750 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565131 S 3 1 0 RNF220 HuRef nsv461406 1 44991129 45066105 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537793 S 1557 0 1 BEST4,BTBD19,KIF2C,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 1780854339_A nsv870815 1 45006225 45091339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585792,nssv1573736,nssv1592106 M 6533 0 3 BEST4,BTBD19,EIF2B3,PLK3,PTCH2,RPS8,SNORD38A,SNORD38B,SNORD46,SNORD55,TCTEX1D4 IS33504,IS37646,IS39233 nsv871320 1 45031882 45047428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509750 S 6533 0 1 BTBD19,PLK3,TCTEX1D4 SP54956 nsv870773 1 45031882 45059893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510648 S 6533 0 1 BTBD19,PLK3,PTCH2,TCTEX1D4 SP54988 nsv870876 1 45037132 45046118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511316 S 6533 0 1 PLK3,TCTEX1D4 SP55021 esv1064548 1 45054854 45054941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716592 S 2 0 1 "" HuRef esv2474011 1 45189959 45191530 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288245 S 1 0 1 EIF2B3 NA18507 esv2630872 1 45190215 45190526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303392 S 1 0 1 EIF2B3 NA18507 nsv524385 1 45261178 45264091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700302 S 2026 0 1 ZSWIM5 esv24105 1 45407164 45418038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9846 S 451 0 1 ZSWIM5 NA12776 esv2595167 1 45480959 45482447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289473 S 1 0 1 "" NA18507 esv2009066 1 45481052 45482089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736500 S 1 0 1 "" NA18507 esv1314250 1 45568295 45568295 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355410 S 2 1 0 MUTYH HuRef esv2750837 1 45568702 45680850 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984095,essv6984094 M 771 0 1 MUTYH,TESK2,TOE1 BEC_774 nsv829726 1 45670168 45875773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445673 S 95 0 1 AKR1A1,CCDC163P,CCDC17,GPBP1L1,MMACHC,NASP,PRDX1,TESK2 esv1477203 1 45735933 45735933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212552 S 2 1 0 CCDC163P HuRef esv1741401 1 45736041 45736041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030031 S 2 1 0 CCDC163P HuRef esv1003037 1 45756074 45756169 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570158 S 3 0 1 PRDX1 HuRef nsv871928 1 45797288 46382323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558440 S 6533 1 0 AKR1A1,CCDC17,GPBP1L1,IPP,MAST2,NASP,PIK3R3,RPS15AP10,TMEM69 MS23257 esv273688 1 45841614 45841699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581600 S 7 1 0 Samples from several populations that are part of the HapMap project. NASP NA12878 nsv822509 1 45857566 45862229 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431806 S 31 0 1 CCDC17 AK20 nsv870511 1 45920725 46018010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516209 S 6533 1 0 GPBP1L1,IPP,TMEM69 SP56549 nsv871233 1 45925790 46083862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590571 S 6533 1 0 IPP,MAST2,TMEM69 IS38535 esv1007960 1 45940855 45941385 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565778 S 3 1 0 IPP HuRef nsv436781 1 45941452 45941819 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465962 S 2 1 0 Samples from several populations that are part of the HapMap project. IPP NA18505 esv1730955 1 45948103 45948501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787047 S 2 0 1 IPP HuRef dgv218n71 1 45955503 46171002 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870791,nsv871312 M 6533 2 0 IPP,MAST2 SP54901,SP56574 dgv219n71 1 45956887 46086757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871023,nsv870626 M 6533 0 2 IPP,MAST2 IS41634,SP57469 nsv871763 1 45959163 46008685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509751,nssv1511317 M 6533 0 2 IPP SP54956,SP55021 esv2023284 1 45979693 45980375 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956642 S 1 0 1 IPP NA18507 esv4646 1 45979810 45980266 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27087 S 1 0 1 Single Asian sample YH IPP YH nsv159558 1 45979883 45980194 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178136 M 24 IPP nsv870911 1 45989162 46270962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560207 S 6533 1 0 MAST2 MS24372 nsv461417 1 45995673 46188935 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537804 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAST2 HGDP01189 esv2170120 1 46007019 46007443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851842 S 1 0 1 "" NA18507 nsv524147 1 46008685 46210663 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700026 S 2026 1 0 MAST2 nsv436292 1 46015346 46024503 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465973 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25258 1 46016872 46023933 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17370 S 451 0 1 "" NA18505 nsv437479 1 46045466 46183733 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467360 S 60 0 1 Samples from several populations that are part of the HapMap project. MAST2 NA07029 esv271472 1 46105719 46106122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500151,essv2511592 M 157 2 0 Samples from several populations that are part of the HapMap project. MAST2 NA18573,NA18940 nsv10139 1 46125048 46150358 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19103 S 31 1 0 Samples from several populations that are part of the HapMap project. MAST2 NA18972 nsv829737 1 46125487 46279011 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445884,nssv1445717,nssv1445728,nssv1445740,nssv1445817,nssv1445917,nssv1445751,nssv1445862,nssv1445828,nssv1445762,nssv1445895,nssv1445773,nssv1445851,nssv1445839,nssv1445784,nssv1445906,nssv1445706,nssv1445928,nssv1445795,nssv1445873,nssv1445684,nssv1445806,nssv1445695 M 95 23 0 MAST2,PIK3R3 esv2583928 1 46137998 46139522 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204188 S 1 0 1 MAST2 NA18507 esv1000231 1 46138520 46139108 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565041 S 3 0 1 MAST2 HuRef esv5205 1 46138661 46139087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27646 S 1 0 1 Single Asian sample YH MAST2 YH esv9144 1 46138669 46139025 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31585 S 1 0 1 MAST2 SJK esv1778390 1 46138712 46139041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681392 S 2 0 1 MAST2 HuRef nsv522438 1 46235468 46273580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705796 S 2026 0 1 MAST2 nsv515934 1 46266047 46275423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661378,nssv700228,nssv702190,nssv689962,nssv665376,nssv676725 M 2026 0 6 MAST2 nsv508012 1 46312696 46318696 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621467 S 4 0 1 PIK3R3 NA15510 nsv527878 1 46421633 46432882 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704379 S 2026 1 0 POMGNT1,TSPAN1 nsv822520 1 46423073 46434288 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431807 S 31 0 1 POMGNT1,TSPAN1 AK20 nsv470711 1 46432882 46583117 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547729 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf190,LRRC41,NSUN4,POMGNT1,RAD54L,UQCRH HGDP01223 esv270399 1 46451595 46451944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516806,essv2517509,essv2516302,essv2515734,essv2515971,essv2517289,essv2519138,essv2519441 M 157 8 0 Samples from several populations that are part of the HapMap project. C1orf190,POMGNT1 NA07346,NA11881,NA11918,NA12814,NA12815,NA12873,NA18970,NA19141 esv1137837 1 46451634 46451634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125798 S 2 1 0 C1orf190,POMGNT1 HuRef nsv829748 1 46497095 46648709 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445939 S 95 0 1 FAAH,LRRC41,NSUN4,RAD54L,UQCRH esv3832 1 46575847 46576271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26273 S 1 0 1 Single Asian sample YH "" YH esv22272 1 46578239 46582884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12311 S 451 0 1 NSUN4 NA12776 nsv159955 1 46586130 46592914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178533 M 24 NSUN4 nsv755 1 46781904 46813617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10857 S 9 1 0 KNCN,LOC100507423,MKNK1 NA18956 nsv522319 1 46853328 46866854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695099 S 2026 0 1 MOBKL2C nsv819064 1 46871946 46872189 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419437 S 2 0 1 "" AK1 esv1238931 1 47014731 47014731 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950932 S 2 1 0 "" HuRef nsv870792 1 47031725 47044772 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519760 S 6533 1 0 CYP4B1 SP50544 nsv870538 1 47031725 47081852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583640,nssv1588389 M 6533 2 0 CYP4B1 IS36559,IS38186 nsv525401 1 47090987 47102234 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701524 S 2026 0 1 CYP4Z2P dgv220n71 1 47122961 47289710 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871288,nsv871958,nsv871377,nsv870695 M 6533 10 0 CYP4A11,CYP4X1,CYP4Z2P MS12188,MS12539,MS14157,MS14502,MS14923,MS17849,MS18377,MS24245,MS24812,MS25190 nsv870674 1 47189028 47289710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534865 S 6533 1 0 CYP4X1 MS11750 nsv871717 1 47222073 47296851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532735 S 6533 1 0 CYP4X1 MS10820 nsv461428 1 47260172 47296851 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537815 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP4X1 HGDP00674 nsv871080 1 47262373 47289710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549404,nssv1560162 M 6533 2 0 CYP4X1 MS18212,MS24350 dgv221n71 1 47306292 47410586 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870899,nsv871010,nsv870705 M 6533 12 0 CYP4A22,CYP4Z1 MS10820,MS12188,MS12539,MS14157,MS14923,MS17849,MS18212,MS18377,MS24245,MS24350,MS24812,MS25190 esv24824 1 47338177 47346769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13964 S 451 0 1 CYP4Z1 NA18502 esv1709924 1 47422845 47422845 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834849 S 2 1 0 PDZK1IP1 HuRef nsv441692 1 47486248 47501675 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 STIL nsv822531 1 47486479 47502670 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437585 S 31 1 0 STIL NA18547 esv273293 1 47510418 47510503 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581538 S 7 1 0 Samples from several populations that are part of the HapMap project. STIL NA12878 esv33183 1 47548818 47549941 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95098 S 51 1 0 STIL 21721 nsv871961 1 47648214 47685215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509752 S 6533 0 1 FOXD2,FOXE3,MGC12982 SP54956 nsv871299 1 47662004 47830477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558441 S 6533 1 0 FOXD2,MGC12982 MS23257 esv26721 1 47749534 47750195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11930 S 451 0 1 "" NA18523 esv270079 1 47820249 47820334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516589 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv8288 1 47829838 47830057 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30729 S 1 0 1 "" SJK esv993664 1 47830866 47830866 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585021 S 3 1 0 "" HuRef nsv160603 1 47830868 47830868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179181 M 24 "" nsv515678 1 47835937 47837606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664347,nssv672560,nssv682478 M 2026 0 3 "" nsv829760 1 47883713 48080775 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445950 S 95 0 1 LOC388630 nsv871257 1 47884286 48107077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549534 S 6533 1 0 LOC388630 MS18261 nsv871175 1 47922896 48027369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572867 S 6533 1 0 LOC388630 IS33188 esv259508 1 47924884 47925186 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394084 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv161055 1 47946687 47946770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179633 M 24 "" esv1008760 1 47946726 47946809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566936 S 3 0 1 "" HuRef esv1734715 1 47946807 47946891 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816597 S 2 0 1 "" HuRef nsv515794 1 47947454 47950514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694006,nssv662898,nssv690119,nssv680790,nssv664814,nssv673299,nssv662482,nssv660050,nssv661894,nssv691966,nssv691214 M 2026 0 11 "" esv2519585 1 47981097 47982028 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320124 S 1 1 0 "" NA18507 nsv518055 1 47989216 47989473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695466 S 2026 0 1 "" nsv461450 1 48009550 48055171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537836 S 1557 0 1 LOC388630 1780862021_A nsv766 1 48143807 48178011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9101 S 9 1 0 LOC388630 NA12156 esv1265813 1 48175363 48175488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690292 S 2 0 1 LOC388630 HuRef nsv871647 1 48218078 48336854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572868 S 6533 1 0 LOC388630 IS33188 nsv511691 1 48225170 48229097 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626330 S 1 0 1 LOC388630 1 esv21603 1 48241670 48243609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9981 S 451 0 1 "" NA19240 nsv522413 1 48246580 48255784 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695196 S 2026 1 0 "" nsv871563 1 48306420 48438185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597033 S 6533 0 1 SKINTL IS40708 nsv871053 1 48322260 49022191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549535 S 6533 1 0 AGBL4,BEND5,SKINTL,SLC5A9,SPATA6 MS18261 esv4009 1 48465526 48465923 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26450 S 1 0 1 Single Asian sample YH SLC5A9 YH esv2524958 1 48493994 48496839 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182226 S 1 0 1 "" NA18507 esv2297840 1 48494551 48496427 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513063 S 1 0 1 "" NA18507 esv23640 1 48494728 48496296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11632 S 451 0 1 "" NA18523 esv2478227 1 48494929 48496929 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345586 S 1 0 1 "" NA18507 nsv508182 1 48502518 48592054 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618972 S 4 0 1 SPATA6 NA10860 nsv870765 1 48504233 48674121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600920 S 6533 0 1 SPATA6 IS41948 esv1490132 1 48521976 48521976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048787 S 2 1 0 "" HuRef esv2566377 1 48667070 48667131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202131 S 1 0 1 SPATA6 NA18507 nsv461461 1 48689603 48750171 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537847 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPATA6 HGDP00899 esv1067911 1 48722242 48722242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178590 S 2 1 0 "" HuRef esv273711 1 48745018 48745334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579145 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269936 1 48745090 48745426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520979,essv2532073,essv2537051,essv2527234,essv2551186,essv2538755,essv2526432,essv2530384,essv2568762,essv2545136,essv2546025,essv2551285 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18505,NA18517,NA18522,NA18858,NA19108,NA19114,NA19141,NA19147,NA19172,NA19239,NA19257 dgv222n71 1 48836684 48864274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871258,nsv871176 M 6533 0 3 AGBL4 SP54220,SP57599,SP81352 nsv777 1 48874062 48907721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1118 S 9 1 0 AGBL4 NA19240 esv992229 1 48935360 48938069 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563572 S 3 1 0 AGBL4 HuRef esv22537 1 48949172 48949757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10249 S 451 5 0 AGBL4 NA18505,NA18508,NA19099,NA19114,NA19190 nsv829771 1 48951445 49133448 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445963 S 95 1 0 AGBL4,BEND5 nsv521306 1 49101454 49102291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697912 S 2026 0 1 AGBL4 dgv223n71 1 49109043 49302179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871648,nsv871373 M 6533 0 2 AGBL4 IS41877,MS20359 esv272726 1 49117561 49117885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579951,essv2579315 M 7 2 0 Samples from several populations that are part of the HapMap project. AGBL4 NA12892,NA19239 esv268260 1 49130239 49130565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575904,essv2546438,essv2526006,essv2542265,essv2544537,essv2552012,essv2520302,essv2529406,essv2558245,essv2519731,essv2570268,essv2578290,essv2555314,essv2555503,essv2529938,essv2534448,essv2573695,essv2563495 M 157 18 0 Samples from several populations that are part of the HapMap project. AGBL4 NA10847,NA11830,NA11881,NA11918,NA11919,NA12414,NA12489,NA12716,NA12749,NA12750,NA18566,NA18593,NA18940,NA18943,NA18945,NA18949,NA18959,NA18964 nsv829782 1 49179329 49356826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445974 S 95 0 1 AGBL4 nsv527526 1 49179882 49179984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703981 S 2026 0 1 AGBL4 nsv509235 1 49194007 49202234 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621094 S 4 1 0 AGBL4 NA15510 nsv788 1 49194011 49203632 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4179 S 9 1 0 AGBL4 NA12878 esv274217 1 49201284 49206701 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578892 S 7 1 0 Samples from several populations that are part of the HapMap project. AGBL4 NA19239 esv270062 1 49201294 49206739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496645,essv2505561,essv2503857,essv2508876,essv2500324,essv2496593,essv2512597,essv2511909,essv2510768,essv2494327,essv2493202,essv2504242,essv2509887,essv2496488,essv2501171,essv2493765,essv2494653,essv2508953,essv2508307,essv2507850,essv2500656,essv2499284,essv2500952,essv2498521,essv2505839,essv2507095,essv2513365,essv2509167,essv2507362,essv2502448,essv2501418,essv2504721,essv2506876,essv2506603,essv2510946,essv2498771,essv2497503,essv2496934,essv2499840,essv2501779,essv2503671 M 157 41 0 Samples from several populations that are part of the HapMap project. AGBL4 NA06986,NA11894,NA12154,NA12761,NA12878,NA12891,NA18486,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18561,NA18564,NA18571,NA18605,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18948,NA19093,NA19099,NA19102,NA19108,NA19116,NA19138,NA19147,NA19190,NA19225,NA19239 nsv799 1 49228483 49260998 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5553 S 9 1 0 AGBL4 NA19129 nsv829793 1 49280862 49433306 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445985,nssv1445996 M 95 2 0 AGBL4 esv1541386 1 49306174 49306648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763364 S 2 0 1 AGBL4 HuRef nsv819895 1 49313712 49320229 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419779 S 2 1 0 AGBL4 AK1 esv1114612 1 49322383 49322437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320297 S 2 0 1 AGBL4 HuRef nsv525248 1 49352874 49353593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701341 S 2026 0 1 AGBL4 esv22622 1 49391899 49392626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9758 S 451 0 1 AGBL4 NA19129 esv259621 1 49494938 49495376 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393699 S 6 0 0 Samples from several populations that are part of the HapMap project. AGBL4 NA19238 nsv871774 1 49520305 49792436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549305 S 6533 0 1 AGBL4 MS18182 esv270529 1 49634492 49634770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497341,essv2504568,essv2512302 M 157 3 0 Samples from several populations that are part of the HapMap project. AGBL4 NA18545,NA18563,NA18949 nsv516709 1 49701076 49721593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681185,nssv678041,nssv670303,nssv661313 M 2026 0 4 AGBL4 nsv518328 1 49701076 49774752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695758 S 2026 0 1 AGBL4 nsv829804 1 49818702 50004651 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446007 S 95 0 1 AGBL4 nsv829815 1 49901767 50094596 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446018,nssv1446029 M 95 2 0 AGBL4 nsv521615 1 50066008 50229424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698233 S 2026 0 1 AGBL4 esv1301667 1 50186255 50186255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766089 S 2 1 0 AGBL4 HuRef esv28920 1 50251023 50257316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17349 S 451 0 1 AGBL4 NA12828 nsv160710 1 50257596 50260873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179288 M 24 AGBL4 nsv810 1 50272848 50321811 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2121 S 9 0 1 ELAVL4 NA18555 nsv498670 1 50301285 50314489 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585453 S 9 0 1 ELAVL4 nsv829826 1 50332399 50513729 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446051,nssv1446040 M 95 2 0 ELAVL4 esv992405 1 50470171 50470774 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564636 S 3 1 0 "" HuRef nsv528957 1 50538569 50595501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705653 S 2026 0 1 "" nsv822542 1 50541867 50543817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431809 S 31 0 1 "" AK20 esv2655210 1 50607292 50607976 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340936 S 1 1 0 "" NA18507 esv1410288 1 50620114 50620114 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722967 S 2 1 0 "" HuRef esv1530192 1 50620190 50620190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353403 S 2 1 0 "" HuRef esv268665 1 50685214 50685299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514396,essv2518227 M 157 2 0 Samples from several populations that are part of the HapMap project. FAF1 NA12874,NA19240 esv274345 1 50685214 50685299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581294 S 7 1 0 Samples from several populations that are part of the HapMap project. FAF1 NA19240 esv268038 1 50768544 50768629 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515988 S 157 1 0 Samples from several populations that are part of the HapMap project. FAF1 NA12873 esv269208 1 50776439 50776767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512560,essv2511717,essv2504224,essv2496168,essv2494876,essv2509216,essv2506517,essv2510926,essv2497077,essv2512095 M 157 10 0 Samples from several populations that are part of the HapMap project. FAF1 NA18489,NA18499,NA18505,NA18511,NA18520,NA18909,NA19108,NA19116,NA19190,NA19238 esv272813 1 50776444 50776800 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580695,essv2579525 M 7 2 0 Samples from several populations that are part of the HapMap project. FAF1 NA19238,NA19240 esv269625 1 50802519 50802818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510147,essv2506797,essv2502322,essv2512411,essv2495321,essv2510321,essv2493373,essv2503584,essv2503966 M 157 9 0 Samples from several populations that are part of the HapMap project. FAF1 NA06986,NA07037,NA11829,NA11918,NA12004,NA12043,NA12287,NA12414,NA12776 nsv821 1 50871659 50905038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9112 S 9 1 0 FAF1 NA12156 nsv832 1 50941810 50986699 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9118 S 9 0 1 FAF1 NA12156 dgv224n71 1 51188582 51214549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870850,nsv870561 M 6533 0 2 CDKN2C,FAF1 SP54043,SP57469 dgv225n71 1 51188582 51230960 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871262,nsv871356 M 6533 0 5 CDKN2C,FAF1 SP51109,SP54725,SP54956,SP54988,SP55021 nsv870748 1 51197144 51221589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511168 S 6533 0 1 CDKN2C,FAF1 SP55019 nsv526838 1 51242830 51248076 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703195 S 2026 0 1 "" esv272092 1 51600219 51600600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508071,essv2501659,essv2493381,essv2495203,essv2511579 M 157 5 0 Samples from several populations that are part of the HapMap project. EPS15 NA07346,NA12045,NA12144,NA12776,NA18964 esv25434 1 51687865 51689975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12448 S 451 0 3 EPS15 NA18523,NA19099,NA19129 esv273142 1 51747480 51747828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580173,essv2580331,essv2579140 M 7 3 0 Samples from several populations that are part of the HapMap project. EPS15 NA12878,NA12891,NA19239 nsv518552 1 51780741 51789301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695995 S 2026 0 1 "" nsv159730 1 51798132 51802312 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178308 M 24 "" esv1052378 1 51949752 51949752 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148505 S 2 1 0 OSBPL9 HuRef nsv508193 1 51972748 51976382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622763 S 4 0 1 OSBPL9 NA18994 esv1008107 1 52005251 52012166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565406 S 3 0 1 OSBPL9 HuRef esv1546529 1 52042838 52042838 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733512 S 2 1 0 NRD1 HuRef nsv519495 1 52066158 52070739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696883 S 2026 0 1 NRD1 nsv829837 1 52078423 52187326 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446129,nssv1446284,nssv1446162,nssv1446273,nssv1446340,nssv1446240,nssv1446207,nssv1446173,nssv1446185,nssv1446329,nssv1446151,nssv1446218,nssv1446062,nssv1446351,nssv1446118,nssv1446307,nssv1446074,nssv1446318,nssv1446085,nssv1446229,nssv1446096,nssv1446296,nssv1446251,nssv1446262,nssv1446362,nssv1446196,nssv1446107,nssv1446140 M 95 0 28 NRD1,RAB3B esv2551965 1 52090335 52091077 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337373 S 1 1 0 NRD1 NA18507 nsv512738 1 52090657 52090874 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625364 S 1 1 0 NRD1 1 esv1684865 1 52090816 52090816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851654 S 2 1 0 NRD1 HuRef nsv843 1 52124383 52165274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9125,nssv1136,nssv5554,nssv2131,nssv4189 M 9 5 0 RAB3B NA12156,NA12878,NA18555,NA19129,NA19240 nsv829848 1 52141199 52314287 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446518,nssv1446384,nssv1446373,nssv1446440,nssv1446451,nssv1446407,nssv1446429,nssv1446462,nssv1446484,nssv1446495,nssv1446506,nssv1446540,nssv1446395,nssv1446418,nssv1446473,nssv1446529 M 95 0 16 BTF3L4,KTI12,RAB3B,TXNDC12 nsv509246 1 52141242 52177538 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617994,nssv619794,nssv621095 M 4 3 0 RAB3B CHM,NA10860,NA15510 esv1010825 1 52145010 52147511 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565703 S 3 1 0 RAB3B HuRef esv1693930 1 52222032 52222032 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847906 S 2 1 0 RAB3B HuRef esv24521 1 52227625 52228590 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10185 S 451 0 1 RAB3B NA11995 esv25536 1 52380137 52380807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12747 S 451 0 1 ZFYVE9 NA12489 nsv855 1 52393779 52426134 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5571 S 9 1 0 ZFYVE9 NA19129 nsv819763 1 52501757 52502158 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418936 S 2 1 0 ZFYVE9 AK1 nsv822553 1 52521020 52523353 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428022 S 31 0 1 ZFYVE9 AK10 esv1012300 1 52569790 52570083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325530 S 2 0 1 ZFYVE9 HuRef esv988243 1 52780175 52781999 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565052 S 3 1 0 ZCCHC11 HuRef nsv527810 1 52829185 52831694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704304 S 2026 0 1 "" esv1918082 1 52876376 52876796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618488 S 1 0 1 FAM159A NA18507 dgv50e1 1 52898603 53061769 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv335,essv1203 M 271 0 0 SELRC1,ZYG11B NA18951 nsv871800 1 52926020 53144507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555292 S 6533 0 1 ECHDC2,SELRC1,ZYG11A,ZYG11B MS21258 nsv829859 1 52961730 53163533 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446573,nssv1446562,nssv1446584,nssv1446551 M 95 0 4 ECHDC2,ZYG11A,ZYG11B esv1751396 1 53022162 53022162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256136 S 2 1 0 ZYG11B HuRef nsv866 1 53045555 53083696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9134 S 9 0 1 ZYG11A,ZYG11B NA12156 esv6479 1 53065010 53065110 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28920 S 1 1 0 ZYG11B SJK esv24261 1 53128283 53130141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10399 S 451 0 1 ZYG11A NA18517 nsv870582 1 53144507 53337174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564752 S 6533 1 0 ECHDC2,PODN,SCP2,SLC1A7 IS30294 nsv870668 1 53175140 53275561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568847 S 6533 0 1 SCP2 IS31369 nsv870947 1 53204575 53234061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514387 S 6533 0 1 SCP2 SP56004 nsv10150 1 53256062 53261150 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19433 S 31 1 0 Samples from several populations that are part of the HapMap project. SCP2 NA18972 nsv441693 1 53261038 53262328 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SCP2 dgv51e1 1 53261152 53304705 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11349,esv1097 M 271 0 0 PODN,SCP2 NA19128 nsv514927 1 53261728 53262316 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628449 S 1414 0 0 SCP2 dgv36n67 1 53266620 53268167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822564,nsv822575 M 31 0 2 SCP2 AK16,AK2 nsv522862 1 53276999 53340309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698517 S 2026 0 1 PODN,SCP2,SLC1A7 essv13816 1 53287085 53302956 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PODN,SCP2 NA18853 esv24212 1 53291827 53292484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14289 S 451 0 1 "" NA18505 nsv516780 1 53292714 53340309 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670772,nssv660861,nssv686801,nssv687629,nssv703091,nssv701768,nssv660166,nssv672612,nssv700439,nssv692841,nssv675520 M 2026 1 10 PODN,SLC1A7 dgv226n71 1 53297750 53345908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870475,nsv871878 M 6533 0 2 PODN,SLC1A7 IS38403,MS10311 nsv818167 1 53308066 53315381 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417740 S 112 0 1 PODN NA19003 esv21434 1 53333228 53341502 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15060 S 451 2 1 SLC1A7 NA06985,NA12044,NA19114 nsv822587 1 53334248 53339846 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436336 S 31 1 0 SLC1A7 NA18542 esv2306191 1 53335520 53335888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820247 S 1 0 1 SLC1A7 NA18507 esv998975 1 53337495 53337495 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578735 S 3 1 0 SLC1A7 HuRef nsv160120 1 53337524 53337524 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178698 M 24 SLC1A7 nsv871058 1 53341466 53372666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585566 S 6533 0 1 SLC1A7 IS37546 nsv822598 1 53366578 53368169 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439456,nssv1423452 M 31 0 2 SLC1A7 NA18537,NA18968 esv26895 1 53366780 53368162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13636 S 451 0 5 SLC1A7 NA11894,NA11931,NA12044,NA12749,NA12828 nsv526458 1 53401150 53401403 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702761 S 2026 1 0 "" nsv520450 1 53401403 53403119 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680733,nssv684433,nssv671581 M 2026 3 0 "" esv2422213 1 53418151 53497027 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161539 S 181 1 0 C1orf123,CPT2,LOC100507564,LRP8,MAGOH ND01562 nsv829871 1 53439131 53621308 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446595 S 95 0 1 C1orf123,CPT2,LOC100507564,LRP8,MAGOH nsv509258 1 53498099 53524215 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619795 S 4 1 0 LRP8 NA10860 nsv461483 1 53531660 53614687 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537868 S 1557 1 0 LRP8 NINDS_15 nsv509269 1 53534896 53821357 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619797,nssv619799,nssv619800,nssv619798 M 4 1 0 DMRTB1,FLJ40434,GLIS1,LRP8 NA10860 esv21984 1 53565853 53566605 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19147 S 451 0 1 LRP8 NA12489 nsv159942 1 53591521 53592861 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178520 M 24 "" nsv871730 1 53674425 53793130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529781 S 6533 0 1 DMRTB1,FLJ40434,GLIS1 MS10123 nsv877 1 53688166 53721492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9140 S 9 1 0 DMRTB1 NA12156 nsv829882 1 53688253 53868201 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446606,nssv1446617 M 95 0 2 DMRTB1,GLIS1 dgv227n71 1 53689986 53767150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871351,nsv870666 M 6533 0 3 DMRTB1,GLIS1 MS10769,MS16153,MS17208 dgv52e1 1 53691140 53801824 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6044,essv1281,essv20362,essv18625,essv21735,essv16908,essv22593,essv12656,essv19216,essv6235,essv13482,esv443,essv9327,essv13901,essv16791,essv15670,essv3947,essv7858,essv1994,essv23892,essv7523 M 271 0 0 DMRTB1,GLIS1 NA07348,NA10830,NA10838,NA12234,NA12248,NA12814,NA18500,NA18545,NA18558,NA18571,NA18636,NA18853,NA18854,NA18872,NA18912,NA18949,NA18970,NA18995,NA19192,NA19205 nsv428443 1 53691140 53801824 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450243,nssv450254 M 62 2 0 DMRTB1,GLIS1 HGDP00476,HGDP01093 dgv37n67 1 53705955 53706519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822609,nsv822620 M 31 2 0 "" NA18526,NA18968 nsv888 1 53709793 53746882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6602 S 9 0 1 GLIS1 NA12156 dgv228n71 1 53731403 53787080 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871236,nsv871166,nsv870853 M 6533 0 3 GLIS1 IS35007,IS35484,MS11726 nsv527806 1 53737654 53748776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704300 S 2026 0 1 GLIS1 esv26850 1 53740342 53741342 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18493 S 451 1 0 "" NA06985 nsv522165 1 53744637 53777648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694938 S 2026 0 1 GLIS1 nsv512739 1 53763703 53763787 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625366 S 1 1 0 GLIS1 1 nsv10162 1 53772851 53775276 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13430 S 31 0 1 Samples from several populations that are part of the HapMap project. GLIS1 NA18853 nsv870751 1 53788941 53962256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546463 S 6533 0 1 GLIS1 MS17208 nsv899 1 53812744 53848076 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4208 S 9 1 0 GLIS1 NA12878 nsv509280 1 53878256 53947541 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619801 S 4 1 0 GLIS1 NA10860 nsv461494 1 53899292 53934133 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537879 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLIS1 HGDP01290 nsv461506 1 53925291 53962256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537890 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLIS1 HGDP00515 esv2313944 1 53947446 53947852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934662 S 1 0 1 GLIS1 NA18507 esv1769487 1 53951543 53951543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777080 S 2 1 0 GLIS1 HuRef esv27981 1 54124016 54126041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17017 S 451 0 1 YIPF1 NA19099 esv22788 1 54140226 54142306 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10550 S 451 0 3 DIO1 NA18517,NA18916,NA19257 nsv516392 1 54140841 54142318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663460,nssv686306,nssv679576,nssv677077,nssv671284,nssv662307,nssv668000,nssv691801 M 2026 0 8 DIO1 esv27044 1 54184876 54185589 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17330 S 451 0 1 LRRC42 NA12006 esv275008 1 54207186 54220665 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585314 S 1250 0 1 "" dgv17n27 1 54350989 54363910 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461528,nsv461517 M 1557 2 0 "" 1780854105_A,1780854558_A nsv470712 1 54350989 54363910 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547730 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00578 nsv461539 1 54356866 54370863 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537919 S 1557 0 1 "" 1780862412_A nsv871920 1 54379745 54415063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590430 S 6533 1 0 CDCP2,CYB5RL IS38511 esv24487 1 54384801 54387753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14664 S 451 0 1 CDCP2 NA18511 dgv5n21 1 54385957 54388187 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524287,nsv520256 M 2026 0 7 CDCP2 nsv829893 1 54521444 54715281 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446629 S 95 0 1 SSBP3 nsv509291 1 54534730 54649255 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619802 S 4 1 0 SSBP3 NA10860 nsv461550 1 54541917 54559997 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537929 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SSBP3 HGDP00857 nsv470713 1 54547791 54571340 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547731 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SSBP3 HGDP01228 nsv870514 1 54604389 54775077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524636 S 6533 1 0 SSBP3 SP55134 nsv822631 1 54642065 54646166 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426387 S 31 1 0 SSBP3 AK6 nsv461561 1 54642404 55125958 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537939 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT11,C1orf177,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,PARS2,SSBP3,TTC22,TTC4 HGDP00764 esv2490522 1 54714608 54714674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313979 S 1 0 1 "" NA18507 nsv871766 1 54741082 54822394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502908 S 6533 1 0 ACOT11 SP51449 nsv461572 1 54756695 54842574 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537947 S 1557 1 0 ACOT11 1780854017_A nsv829904 1 54786874 54959645 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446640 S 95 0 1 ACOT11,FAM151A,HEATR8,HEATR8-TTC4,TTC4 nsv461583 1 54797516 54822394 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537958 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT11 HGDP01195 nsv871016 1 54797516 54823220 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501448 S 6533 1 0 ACOT11 SP50855 nsv516654 1 54818627 54850634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684126,nssv680692,nssv669917,nssv682791 M 2026 0 4 ACOT11,FAM151A nsv817614 1 54819123 55973612 CNV Gain Forsberg_et_al_2012 22305530 SNP_array Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) + Illumina Human660W Quad v1 + Illumina Human660W-Quad v1.0 BeadChip + Illumina Human1M Duo v3 + Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) + Illumina Human660W-Quad v1.0 BeadChip nssv1415558 S 6 1 0 ACOT11,BSND,C1orf177,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,LOC100507634,MIR4422,PARS2,PCSK9,TMEM61,TTC22,TTC4,USP24 102,GEO:GSM849756 nsv461594 1 54831883 54995778 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537968 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT11,FAM151A,HEATR8,HEATR8-TTC4,PARS2,TTC4 HGDP01101 dgv229n71 1 54842574 55157019 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871317,nsv870706 M 6533 2 0 ACOT11,C1orf177,DHCR24,FAM151A,HEATR8,HEATR8-TTC4,PARS2,TTC22,TTC4 SP51449,SP55134 nsv910 1 54844047 54901583 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6611,nssv2142 M 9 0 2 ACOT11,FAM151A,HEATR8,HEATR8-TTC4 NA12156,NA18555 esv33550 1 54861486 54879213 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100678,essv94059,essv94047,essv97050,essv97032,essv93059,essv101671,essv97113,essv100011,essv99560 M 51 4 4 ACOT11,FAM151A 21656,21802,21817,21863,21909,22075,22086,22335 esv24082 1 54861813 54868562 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19377,esv16814,esv19119 M 451 23 1 ACOT11 NA07045,NA11931,NA11993,NA12044,NA12239,NA12287,NA12749,NA12828,NA12878,NA18508,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2651907 1 54863814 54868582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282507 S 1 0 1 ACOT11 NA18507 esv2181722 1 54864671 54868727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551491 S 1 0 1 ACOT11 NA18507 nsv822642 1 54864767 54865524 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422369 S 31 1 0 ACOT11 NA18552 dgv38n67 1 54864767 54865999 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822675,nsv822653 M 31 0 2 ACOT11 AK2,AK20 esv1002091 1 54864767 54865999 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586810 S 3 1 0 ACOT11 HuRef dgv39n67 1 54864767 54866063 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822686,nsv822664 M 31 3 0 ACOT11 AK12,AK16,NA18997 nsv822698 1 54864767 54866715 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427253,nssv1424040,nssv1426388,nssv1439295,nssv1423474,nssv1440809 M 31 3 3 ACOT11 AK6,AK8,NA18592,NA18947,NA18968,NA18969 nsv822709 1 54864767 54876075 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437596 S 31 1 0 ACOT11 NA18547 nsv820219 1 54864797 54876172 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418608 S 2 1 0 ACOT11 AK1 esv1004742 1 54864917 54868101 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586765 S 3 1 0 ACOT11 HuRef nsv821518 1 54864917 54868562 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420314 S 1 0 1 ACOT11 NA10851 nsv822720 1 54864917 54868562 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423958,nssv1423485,nssv1428824,nssv1431069,nssv1430343,nssv1426389,nssv1439457,nssv1440810,nssv1421451,nssv1437607,nssv1423115,nssv1436337,nssv1427254,nssv1434167,nssv1437936,nssv1432097,nssv1425494,nssv1428023,nssv1440406,nssv1429560,nssv1435653,nssv1424736,nssv1422370,nssv1433417,nssv1431811,nssv1440122,nssv1424053,nssv1437222,nssv1438586,nssv1434865 M 31 0 30 ACOT11 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv2628077 1 54864938 54867840 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211693 S 1 0 1 ACOT11 NA18507 nsv461605 1 54892103 54923052 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537979 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HEATR8,HEATR8-TTC4 HGDP00031 esv259647 1 54957461 54957850 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393663,essv2394385 M 6 0 0 Samples from several populations that are part of the HapMap project. HEATR8-TTC4,TTC4 NA19238,NA19240 esv259828 1 54957470 54957855 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396775,essv2399111,essv2396256,essv2398091,essv2395394,essv2395243,essv2395656,essv2399900,essv2398557,essv2396125,essv2396047,essv2399919,essv2398202,essv2396979,essv2398343,essv2400976,essv2395219,essv2399768,essv2399496,essv2398687,essv2395952,essv2400477 M 144 0 0 Samples from several populations that are part of the HapMap project. HEATR8-TTC4,TTC4 NA07000,NA11920,NA12006,NA12144,NA12749,NA18499,NA18501,NA18504,NA18516,NA18523,NA18537,NA18856,NA18909,NA18973,NA19093,NA19099,NA19108,NA19129,NA19137,NA19190,NA19238,NA19240 nsv871008 1 54985572 55046168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592107 S 6533 0 1 C1orf177,PARS2,TTC22 IS39233 dgv53e1 1 55042239 55081197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1261,essv8508 M 271 0 0 C1orf177 NA18854 nsv160901 1 55047252 55047252 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179479 M 24 C1orf177 esv1945281 1 55059971 55060646 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673376 S 1 0 1 C1orf177 NA18507 esv3026 1 55060099 55060555 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25467 S 1 0 1 Single Asian sample YH C1orf177 YH esv1224986 1 55060150 55060468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623019 S 2 0 1 C1orf177 HuRef esv6692 1 55060156 55060486 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29133 S 1 0 1 C1orf177 SJK nsv829915 1 55067201 55230951 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446651 S 95 1 0 C1orf177,DHCR24,TMEM61 essv12120 1 55067310 55077424 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C1orf177 NA19173 dgv54e1 1 55067310 55081197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8408,essv8896 M 271 0 0 C1orf177 NA19093,NA19171 nsv10173 1 55073253 55079201 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13760,nssv16439 M 31 0 2 Samples from several populations that are part of the HapMap project. C1orf177 NA18853,NA19173 esv23914 1 55073771 55077579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12312 S 451 0 1 C1orf177 NA19108 nsv514928 1 55074400 55076240 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628450 S 1414 0 0 C1orf177 esv2421957 1 55074411 55078004 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067688,essv5076130,essv5024459,essv5114520,essv5143862,essv5056375,essv5025794,essv5063941,essv5048083,essv5059939,essv5082225,essv5022758,essv5116726,essv5092004,essv5034897,essv5091721,essv5083966,essv5062900,essv5015678,essv5053943,essv5121699,essv5028583,essv5047126,essv5077999,essv5054924,essv5086649,essv5006240,essv5048280,essv5116932,essv5117155,essv5032883,essv5147974,essv5030730,essv5118809,essv5099243,essv5076734,essv5018853,essv5154470,essv5086826,essv5056173,essv5014992,essv5134414,essv5117456,essv5076964,essv5092400,essv5027944,essv5046238,essv5076947,essv5046714,essv5143274,essv5014607,essv5067922,essv5037627,essv5139152,essv5047861,essv5116057,essv5127388,essv5140253,essv5067844,essv5136254,essv5054227,essv5012658,essv5039250,essv5053869,essv5072699,essv5084743,essv5152692,essv5063607,essv5112313,essv5153962,essv5132127,essv5023715,essv5111164,essv5009869,essv5054067,essv5086968,essv5041910,essv5124881,essv5094672,essv5003777,essv5030915,essv5005039,essv5012483,essv5032901,essv5038356,essv5055206,essv5134018,essv5108291,essv5100519,essv5150072,essv5053130,essv5013116,essv5113225,essv5087905,essv5142683,essv5117510,essv5114403,essv5022148,essv5016388,essv5046228,essv5005254,essv5153605,essv5005931,essv5026721,essv5062500,essv5044658,essv5036642,essv5070864,essv5155945,essv5012207,essv5033281,essv5117642,essv5149682,essv5022838,essv5052571,essv5029693,essv5147908,essv5120472,essv5100195,essv5041743,essv5111313,essv5006266,essv5099814,essv5113353,essv5117493,essv5101395,essv5150737,essv5061845,essv5055369,essv5068195,essv5014296,essv5052121,essv5134475,essv5156431,essv5072239,essv5124999,essv5112063,essv5156959,essv5090258,essv5069892,essv5025336,essv5066653,essv5149612,essv5148914,essv5038513,essv5104586,essv5105713,essv5058800,essv5150213,essv5052559,essv5012036,essv5136953,essv5152286,essv5145569,essv5021627,essv5053676,essv5034970 M 1184 157 0 C1orf177 NA06993,NA06994,NA07000,NA07022,NA07029,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10854,NA10855,NA10856,NA10861,NA10863,NA11829,NA11830,NA11832,NA11840,NA11881,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12056,NA12057,NA12144,NA12145,NA12155,NA12156,NA12248,NA12249,NA12264,NA12740,NA12751,NA12752,NA12761,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12892,NA18501,NA18506,NA18507,NA18508,NA18515,NA18532,NA18542,NA18550,NA18561,NA18564,NA18566,NA18572,NA18576,NA18582,NA18594,NA18605,NA18608,NA18609,NA18620,NA18623,NA18633,NA18637,NA18852,NA18858,NA18859,NA18862,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19000,NA19005,NA19094,NA19098,NA19099,NA19101,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19152,NA19159,NA19160,NA19161,NA19194,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19211,NA19222 nsv441694 1 55074411 55078004 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C1orf177 esv2078805 1 55106731 55107151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822883 S 1 0 1 DHCR24 NA18507 esv995636 1 55106925 55106976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585443 S 3 0 1 DHCR24 HuRef esv1764339 1 55106932 55106984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120347 S 2 0 1 DHCR24 HuRef esv2550618 1 55142964 55144904 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369498 S 1 0 1 "" NA18507 esv2207439 1 55143848 55144927 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904648 S 1 0 1 "" NA18507 nsv523732 1 55152527 55158315 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699548 S 2026 1 0 "" nsv515980 1 55158174 55158315 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656770,nssv682312,nssv691742,nssv665573 M 2026 4 0 "" nsv527361 1 55158174 55169994 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703791 S 2026 1 0 "" esv2431579 1 55241098 55241869 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245033 S 1 1 0 BSND NA18507 nsv506929 1 55259164 55265164 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620654 S 4 1 0 "" NA15510 nsv523036 1 55268583 55268719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698719 S 2026 0 1 "" nsv527129 1 55273017 55296572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703514 S 2026 0 1 PCSK9 nsv518539 1 55273017 55326142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695983 S 2026 0 1 PCSK9,USP24 nsv871300 1 55273564 55293452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508508 S 6533 1 0 PCSK9 SP54620 nsv870795 1 55277238 55287199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506953 S 6533 1 0 PCSK9 SP54442 nsv870896 1 55277238 55310658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506603 S 6533 1 0 PCSK9,USP24 SP54381 nsv518638 1 55282460 55298884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696087 S 2026 0 1 PCSK9 nsv527707 1 55288592 55298884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704186 S 2026 0 1 PCSK9 dgv230n71 1 55289932 55296390 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871169,nsv871473 M 6533 2 0 PCSK9 SP52077,SP54650 nsv871653 1 55290754 55294729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509754 S 6533 0 1 PCSK9 SP54956 nsv517995 1 55296572 55298884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678581,nssv655142 M 2026 0 2 PCSK9 nsv525879 1 55329655 55404238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702079 S 2026 0 1 USP24 nsv921 1 55416110 55449535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5572 S 9 1 0 USP24 NA19129 esv2496177 1 55425996 55427353 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306781 S 1 0 1 USP24 NA18507 nsv512740 1 55478460 55478644 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625367 S 1 1 0 "" 1 esv1012330 1 55478495 55478495 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275800 S 2 1 0 "" HuRef nsv437209 1 55491599 55504321 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467090 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 nsv10184 1 55501343 55857421 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14073,nssv16769 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA19173 nsv871570 1 55558362 55655110 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505844 S 6533 1 0 "" SP54002 esv2336884 1 55611816 55612241 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532235 S 1 0 1 "" NA18507 esv28904 1 55623755 55628131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10041 S 451 0 3 "" NA18517,NA18916,NA19257 esv2562345 1 55623815 55628570 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392322 S 1 0 1 "" NA18507 esv2559365 1 55624222 55626514 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323990 S 1 0 1 "" NA18507 nsv517685 1 55625575 55633149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666200,nssv667056,nssv679069,nssv690335,nssv684636,nssv691008,nssv666543,nssv672297,nssv653812,nssv655580,nssv664077,nssv656318,nssv672800,nssv678181,nssv693159,nssv668001,nssv654230,nssv664967,nssv652613 M 2026 0 19 "" esv2007537 1 55658781 55659219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939608 S 1 0 1 "" NA18507 esv2382850 1 55747206 55747584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704780 S 1 0 1 "" NA18507 nsv160526 1 55747311 55747364 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179104 M 24 "" esv22041 1 55774975 55775527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11545 S 451 0 2 "" NA11995,NA12006 nsv523489 1 55810995 55839091 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699256 S 2026 1 0 "" nsv461617 1 55827778 55896098 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537991 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00279 esv2646605 1 55833809 55835343 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241069 S 1 0 1 "" NA18507 nsv522334 1 55840764 55840982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695114 S 2026 0 1 "" nsv528352 1 55840764 55840982 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704937 S 2026 1 0 "" nsv526148 1 55874185 55919038 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702406 S 2026 1 0 "" esv2562695 1 55898730 55906739 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196280 S 1 0 1 "" NA18507 esv1073347 1 55901990 55902086 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887661 S 2 0 1 "" HuRef nsv829926 1 55961080 56133333 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446662 S 95 1 0 "" esv271167 1 56041200 56042171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508677,essv2495979,essv2500764,essv2507035 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18592,NA18961,NA18973,NA19102 nsv527396 1 56042409 56053497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703831 S 2026 0 1 "" esv2614647 1 56173354 56174938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230133 S 1 0 1 "" NA18507 esv2378584 1 56173687 56174385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586160 S 1 0 1 "" NA18507 esv2978 1 56173840 56174365 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25419 S 1 0 1 Single Asian sample YH "" YH esv9548 1 56173874 56174189 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31989 S 1 0 1 "" SJK esv1001410 1 56173880 56174200 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583660 S 3 0 1 "" HuRef esv1318179 1 56173881 56174202 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113643 S 2 0 1 "" HuRef nsv161096 1 56173882 56174202 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179674 M 24 "" nsv870513 1 56179815 56265694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539066 S 6533 0 1 "" MS14105 nsv528440 1 56184669 56192781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705035 S 2026 0 1 "" nsv516750 1 56500834 56504268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670628,nssv689111 M 2026 0 2 "" nsv524251 1 56563361 56564197 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700147 S 2026 1 0 "" nsv932 1 56589320 56614849 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4216 S 9 0 1 "" NA12878 nsv508204 1 56603432 56613445 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617438 S 4 0 1 "" CHM esv1005520 1 56603630 56612233 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565594 S 3 0 1 "" HuRef nsv511692 1 56603670 56607817 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626331 S 1 0 1 "" 1 esv4577 1 56603682 56607644 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27018 S 1 0 1 Single Asian sample YH "" YH esv8427 1 56603715 56607550 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30868 S 1 0 1 "" SJK esv270122 1 56651619 56651704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514888,essv2514363,essv2517691,essv2519429 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12234,NA12874,NA12878 esv274553 1 56651619 56651704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581392 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1998276 1 56660104 56660808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957104 S 1 0 1 "" NA18507 esv4146 1 56660244 56660659 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26587 S 1 0 1 Single Asian sample YH "" YH esv8756 1 56660293 56660606 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31197 S 1 0 1 "" SJK esv259501 1 56768517 56769034 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394163,essv2393887,essv2393814,essv2393745 M 6 0 0 Samples from several populations that are part of the HapMap project. PPAP2B NA12878,NA12891,NA12892,NA19238 esv259976 1 56768526 56769045 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396763,essv2400199,essv2400045,essv2394798,essv2396557,essv2401148,essv2400880,essv2398914,essv2396032,essv2395777,essv2396217,essv2400551,essv2398090,essv2396825,essv2399948,essv2399404,essv2398680,essv2400776,essv2395389,essv2396698,essv2399613,essv2397342,essv2401101,essv2396904,essv2395670,essv2399908,essv2397843,essv2399223,essv2394977,essv2398567,essv2396489,essv2397462,essv2395712,essv2395102,essv2398410,essv2399874,essv2399863,essv2398826,essv2398953,essv2399936,essv2399454,essv2400099,essv2398424,essv2398204,essv2400673,essv2395336,essv2396215,essv2397507,essv2398152,essv2397742,essv2394530,essv2395827,essv2399633,essv2394548,essv2398772,essv2398325,essv2399295,essv2395155,essv2395677,essv2399778,essv2398022,essv2398691,essv2395924,essv2394495 M 144 0 0 Samples from several populations that are part of the HapMap project. PPAP2B NA07000,NA07037,NA07051,NA07357,NA11919,NA11931,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12144,NA12155,NA12156,NA12287,NA12489,NA12717,NA12749,NA12750,NA12761,NA12878,NA12891,NA12892,NA18501,NA18504,NA18505,NA18508,NA18511,NA18516,NA18517,NA18520,NA18532,NA18550,NA18552,NA18561,NA18573,NA18582,NA18603,NA18856,NA18858,NA18861,NA18871,NA18909,NA18912,NA18916,NA18944,NA18947,NA18949,NA18956,NA18959,NA18961,NA18964,NA18965,NA19005,NA19093,NA19102,NA19108,NA19116,NA19129,NA19147,NA19190,NA19238,NA19257 esv270659 1 56775907 56775992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514104 S 157 1 0 Samples from several populations that are part of the HapMap project. PPAP2B NA12043 nsv528673 1 56821549 56832159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705311 S 2026 0 1 "" esv2519231 1 56867435 56868959 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370210 S 1 0 1 "" NA18507 esv271956 1 56873366 56874781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508997,essv2500700,essv2507535,essv2495648,essv2506552 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18571,NA18638,NA18916,NA19108 nsv523032 1 56889497 57022146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698715 S 2026 1 0 C1orf168,PRKAA2 nsv520726 1 56916574 56978254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674816,nssv677255 M 2026 0 2 C1orf168,PRKAA2 esv2568213 1 57014495 57016009 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220507 S 1 0 1 C1orf168 NA18507 esv2296236 1 57015008 57015759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802800 S 1 0 1 C1orf168 NA18507 esv3554 1 57015165 57015649 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25995 S 1 0 1 Single Asian sample YH C1orf168 YH esv988788 1 57015207 57015545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568819 S 3 0 1 C1orf168 HuRef esv1167886 1 57015213 57015552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094468 S 2 0 1 C1orf168 HuRef esv7859 1 57015214 57015543 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30300 S 1 0 1 C1orf168 SJK nsv160326 1 57015214 57015552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178904 M 24 C1orf168 esv270436 1 57037164 57037350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515550 S 157 1 0 Samples from several populations that are part of the HapMap project. C1orf168 NA12815 nsv508215 1 57092048 57123738 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617461 S 4 0 1 C8A CHM esv2557221 1 57166819 57167743 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202402 S 1 1 0 C8B NA18507 esv1122538 1 57167344 57167344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152683 S 2 1 0 "" HuRef esv275547 1 57218906 57220328 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585916 S 1250 0 1 "" nsv822731 1 57220946 57221976 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432108 S 31 0 1 "" NA18972 esv2249607 1 57221133 57221584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677458 S 1 0 1 "" NA18507 nsv10195 1 57319589 57323288 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14090 S 31 1 0 Samples from several populations that are part of the HapMap project. DAB1 NA18853 nsv10206 1 57325543 57331698 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14403,nssv12117,nssv11765,nssv17734 M 31 3 1 Samples from several populations that are part of the HapMap project. DAB1 NA07048,NA10839,NA10847,NA19132 nsv526087 1 57349026 57352198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702333 S 2026 0 1 DAB1 nsv943 1 57470741 57497646 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4224 S 9 1 0 DAB1 NA12878 esv25746 1 57529444 57530198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19252 S 451 0 4 DAB1 NA06985,NA12828,NA15510,NA19108 dgv231n71 1 57556732 57630907 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871530,nsv871943,nsv871968 M 6533 0 4 DAB1 IS30171,IS34572,IS37428,MS22109 nsv954 1 57595728 57638387 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9167 S 9 0 1 DAB1 NA12156 esv2031864 1 57633834 57634243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732758 S 1 0 1 DAB1 NA18507 nsv870908 1 57656898 57810371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599981 S 6533 0 1 DAB1 IS41825 nsv966 1 57658583 57688345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5589 S 9 1 0 DAB1 NA19129 esv26685 1 57659932 57662877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19188,esv20279 M 451 0 4 DAB1 NA11993,NA11995,NA12156,NA19099 nsv508013 1 57662511 57668511 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618495 S 4 0 1 DAB1 CHM nsv870802 1 57737702 57809619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583112 S 6533 0 1 DAB1 IS36262 nsv523574 1 57790691 57860377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699357 S 2026 0 1 DAB1 nsv871684 1 57793794 57868967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552179 S 6533 0 1 DAB1 MS19277 esv272319 1 57844436 57844679 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581640,essv2582408,essv2582885 M 7 3 0 Samples from several populations that are part of the HapMap project. DAB1 NA12878,NA12891,NA12892 nsv871620 1 57899759 57930366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504048 S 6533 0 1 DAB1 SP52172 esv6090 1 58010603 58010679 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28531 S 1 1 0 DAB1 SJK nsv829937 1 58030876 58179094 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446673 S 95 1 0 DAB1 nsv977 1 58108324 58140510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4236,nssv9983 M 9 2 0 DAB1 NA12878,NA18956 esv2641726 1 58115209 58116609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289869 S 1 0 1 DAB1 NA18507 esv2277330 1 58115624 58116326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899661 S 1 0 1 DAB1 NA18507 esv4838 1 58115760 58116237 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27279 S 1 0 1 Single Asian sample YH DAB1 YH esv1002928 1 58115800 58116123 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585033 S 3 0 1 DAB1 HuRef esv1095459 1 58115811 58116135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204514 S 2 0 1 DAB1 HuRef esv7642 1 58115813 58116131 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30083 S 1 0 1 DAB1 SJK esv275018 1 58221472 58223044 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586114 S 1250 0 1 DAB1 nsv527673 1 58298823 58304215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704148 S 2026 0 1 DAB1 esv268153 1 58336408 58336493 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517430 S 157 1 0 Samples from several populations that are part of the HapMap project. DAB1 NA11918 nsv525581 1 58355567 58370814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701720 S 2026 0 1 DAB1 esv994666 1 58385034 58388147 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564289 S 3 0 1 DAB1 HuRef esv29351 1 58420019 58421694 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19339 S 451 0 1 DAB1 NA19190 nsv516742 1 58494898 58505638 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693252,nssv694369,nssv670576 M 2026 3 0 "" esv2608020 1 58515917 58518146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193686 S 1 0 1 "" NA18507 nsv511693 1 58516235 58517532 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626333 S 1 0 1 "" 1 esv2231645 1 58516312 58517605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793742 S 1 0 1 "" NA18507 esv4344 1 58516462 58517525 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26785 S 1 0 1 Single Asian sample YH "" YH nsv820077 1 58516483 58517588 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419172 S 2 1 0 "" AK1 esv5903 1 58516487 58517408 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28344 S 1 0 1 "" SJK nsv159018 1 58516498 58517410 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177596 M 24 "" dgv40n67 1 58516499 58517399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822742,nsv822764 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv25175 1 58516499 58517399 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11744 S 451 6 0 "" NA12414,NA18517,NA19108,NA19129,NA19190,NA19225 nsv821363 1 58516499 58517399 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420325 S 1 0 1 "" NA10851 esv1489418 1 58516501 58517414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057198 S 2 0 1 "" HuRef nsv822753 1 58516576 58517130 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436338 S 31 0 1 "" NA18542 nsv511156 1 58516680 58517991 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626066 S 1 0 1 "" 1 nsv988 1 58545211 58556599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9172 S 9 1 0 "" NA12156 esv269772 1 58550080 58550190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494652,essv2500975,essv2513477,essv2498927 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18856,NA18907,NA19138 nsv818178 1 58568421 58575196 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415560 S 112 0 1 "" NA06993 nsv829948 1 58576269 58743968 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446684 S 95 1 0 OMA1 nsv999 1 58591602 58622358 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9989 S 9 1 0 "" NA18956 nsv517087 1 58606346 58606499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653763,nssv686889 M 2026 0 2 "" esv5120 1 58832143 58832708 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27561 S 1 0 1 Single Asian sample YH "" YH esv1641689 1 58832222 58832547 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861493 S 2 0 1 "" HuRef nsv1010 1 58845913 58879811 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2955 S 9 1 0 "" NA18555 nsv820181 1 58913802 58915189 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419252 S 2 0 1 MYSM1 AK1 dgv41n67 1 58927955 58928701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822775,nsv822810,nsv822797,nsv822786 M 31 4 0 MYSM1 AK14,AK16,AK6,NA18951 dgv42n67 1 58927955 58929177 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822821,nsv822832,nsv822854,nsv822843 M 31 13 0 MYSM1 AK18,AK2,AK4,NA18526,NA18537,NA18542,NA18564,NA18566,NA18592,NA18949,NA18969,NA18997,NA18999 dgv43n67 1 58927955 58929392 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822865,nsv822876 M 31 8 0 MYSM1 AK20,AK8,NA18547,NA18552,NA18570,NA18942,NA18947,NA18972 nsv819698 1 58927985 58929843 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419344 S 2 1 0 MYSM1 AK1 nsv1021 1 58964095 58997765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5590 S 9 1 0 "" NA19129 esv2572403 1 58965977 58969173 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264945 S 1 0 1 "" NA18507 esv1263464 1 58967575 58967635 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236398 S 2 0 1 "" HuRef esv1401011 1 58967853 58967853 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728293 S 2 1 0 "" HuRef esv268540 1 58977874 58978179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536536,essv2523015,essv2543947,essv2556516,essv2576755,essv2535016,essv2554077,essv2555044,essv2537212,essv2528328,essv2557169,essv2536860,essv2569866,essv2553085,essv2540389,essv2534799,essv2532658,essv2567454,essv2542012,essv2534018,essv2555576,essv2543100,essv2577003,essv2526562,essv2524022,essv2560194,essv2537760,essv2533127,essv2563115 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA10847,NA11920,NA11931,NA11992,NA11994,NA12154,NA12249,NA12287,NA12872,NA12878,NA12891,NA18501,NA18517,NA18520,NA18542,NA18552,NA18561,NA18576,NA18582,NA18856,NA18916,NA18945,NA18965,NA18970,NA19114,NA19129,NA19190 esv272569 1 58977876 58978179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581673,essv2582514 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv26947 1 59019839 59022982 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12569 S 451 0 1 JUN NA12156 nsv829959 1 59112918 59275673 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446795,nssv1446751,nssv1446762,nssv1446695,nssv1446784,nssv1446728,nssv1446717,nssv1446706,nssv1446740,nssv1446773 M 95 10 0 LOC100131060 esv2289458 1 59219286 59219715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624915 S 1 0 1 "" NA18507 esv5180 1 59219337 59219642 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27621 S 1 0 1 Single Asian sample YH "" YH esv1001193 1 59219370 59219517 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575113 S 3 0 1 "" HuRef esv1027809 1 59219390 59219538 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838410 S 2 0 1 "" HuRef nsv829970 1 59319690 59483749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446806 S 95 1 0 HSD52 esv273226 1 59364025 59364130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580696 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269223 1 59364037 59364373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558022,essv2541033,essv2571665,essv2521036,essv2536624,essv2570524,essv2548382,essv2521774,essv2576587,essv2550819,essv2554230,essv2544349,essv2529169,essv2577930,essv2559757,essv2576297,essv2520101,essv2537267,essv2528253,essv2520988,essv2557270,essv2552538,essv2551802,essv2538956,essv2542941,essv2534751,essv2531027,essv2553341,essv2542184,essv2568987,essv2543602,essv2533915,essv2526932,essv2524075,essv2560329,essv2549725,essv2549066,essv2533223,essv2524978,essv2563493 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA10847,NA10851,NA11831,NA11840,NA11894,NA11920,NA12044,NA12045,NA12144,NA12154,NA12155,NA12287,NA12414,NA12749,NA12761,NA12776,NA12814,NA12815,NA12878,NA12891,NA18498,NA18499,NA18502,NA18504,NA18519,NA18550,NA18561,NA18573,NA18605,NA18856,NA18861,NA18870,NA18916,NA19005,NA19129,NA19190,NA19225 nsv871126 1 59442506 59529637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557143 S 6533 1 0 "" MS22440 nsv1032 1 59483689 59528773 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9179 S 9 0 1 "" NA12156 nsv829982 1 59485436 59605380 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446817 S 95 0 1 FGGY esv271999 1 59644433 59644761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565823,essv2541013,essv2542344,essv2571035,essv2523250,essv2577467,essv2552203,essv2547525,essv2564514,essv2553822,essv2576432,essv2530562,essv2537310,essv2528413,essv2546901,essv2540158,essv2551798,essv2569524,essv2562888,essv2523779,essv2564907,essv2534840,essv2561231,essv2539700,essv2549473,essv2566010,essv2532719,essv2567575,essv2541729,essv2570153,essv2553402,essv2535725,essv2527840,essv2573019,essv2566372,essv2573925,essv2556047,essv2573549,essv2543310,essv2524178,essv2545972,essv2574257,essv2551512,essv2536011,essv2548792,essv2557878 M 157 46 0 Samples from several populations that are part of the HapMap project. FGGY NA06986,NA07037,NA10851,NA11829,NA11831,NA11919,NA11993,NA12004,NA12043,NA12489,NA12717,NA12751,NA12763,NA12814,NA12873,NA12878,NA12891,NA12892,NA18489,NA18504,NA18508,NA18532,NA18537,NA18558,NA18561,NA18562,NA18563,NA18564,NA18572,NA18576,NA18582,NA18592,NA18593,NA18605,NA18608,NA18907,NA18942,NA18948,NA18951,NA18956,NA18964,NA18965,NA19129,NA19239,NA19240,NA19257 esv273066 1 59644433 59644761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581958,essv2582544,essv2583196,essv2584639,essv2583561 M 7 5 0 Samples from several populations that are part of the HapMap project. FGGY NA12878,NA12891,NA12892,NA19239,NA19240 nsv870485 1 59698254 59759043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521831 S 6533 0 1 FGGY SP52599 esv1430411 1 59729301 59729301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651202 S 2 1 0 FGGY HuRef nsv461639 1 59747958 59843977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538007 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FGGY HGDP01171 nsv523577 1 59765574 59843977 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699363 S 2026 0 1 FGGY nsv1043 1 59799705 59844580 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9187 S 9 0 1 FGGY NA12156 nsv871532 1 59808888 60047683 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557144 S 6533 1 0 FGGY,MIR4711 MS22440 esv2421406 1 59816510 59830867 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5048759,essv5065775,essv5130173,essv5055954,essv5070187,essv5150614,essv5049821,essv5132781,essv5036213,essv5055366,essv5121507,essv5103155,essv5045441,essv5118931,essv5100443,essv5072761,essv5020151,essv5059035,essv5065377,essv5091329,essv5099583,essv5038259,essv5113121,essv5004870,essv5080174,essv5017970,essv5034332,essv5154431,essv5134301,essv5041917,essv5098890,essv5136841,essv5002820,essv5078694,essv5039137,essv5132707,essv5027230,essv5108757,essv5045547,essv5060169,essv5134318,essv5129886,essv5011633,essv5031687,essv5009759,essv5028202,essv5109585,essv5149511,essv5063136,essv5112933,essv5113893,essv5056547,essv5105946,essv5103948,essv5038835,essv5124457,essv5117768,essv5120685,essv5020452,essv5078871,essv5158322,essv5158907,essv5088344,essv5053666,essv5118877,essv5091848,essv5060569,essv5086182,essv5066842,essv5039434,essv5090086,essv5036591,essv5022439,essv5074004,essv5099289,essv5157461,essv5003480,essv5049830,essv5044839,essv5122235,essv5009372,essv5115967,essv5088404,essv5040550,essv5028615,essv5096990,essv5019130,essv5066027,essv5094505,essv5137789,essv5087946,essv5061577,essv5060972,essv5067428,essv5035130,essv5109864,essv5027088,essv5045282,essv5129341,essv5051229,essv5155732,essv5017433,essv5099242,essv5119858,essv5114575,essv5040584,essv5053200,essv5097353,essv5085406,essv5092760,essv5144502,essv5036975,essv5087514,essv5135853,essv5147049,essv5120070,essv5021978,essv5103220,essv5103560,essv5021553,essv5047791,essv5023539,essv5068132,essv5130525,essv5087237,essv5031374,essv5043644,essv5028079,essv5103864,essv5060096,essv5065636,essv5139519,essv5115475,essv5032236,essv5056501,essv5041049,essv5049082,essv5096985,essv5084190,essv5155309,essv5153361,essv5159584,essv5054474,essv5126515,essv5082473,essv5057642,essv5041519,essv5063892,essv5024755,essv5005275,essv5033434,essv5103035,essv5079202,essv5044255,essv5119898,essv5015016,essv5058318,essv5054047,essv5054403,essv5048253,essv5071340 M 1184 0 161 FGGY NA11893,NA11994,NA12156,NA12763,NA12828,NA18500,NA18505,NA18520,NA18626,NA18853,NA18855,NA18859,NA18873,NA18909,NA18912,NA18914,NA18930,NA18933,NA18946,NA18955,NA18956,NA18965,NA18969,NA18978,NA19009,NA19038,NA19062,NA19063,NA19087,NA19096,NA19098,NA19102,NA19117,NA19119,NA19121,NA19123,NA19127,NA19130,NA19132,NA19138,NA19139,NA19172,NA19184,NA19193,NA19201,NA19210,NA19221,NA19222,NA19226,NA19238,NA19248,NA19318,NA19327,NA19347,NA19350,NA19371,NA19377,NA19379,NA19381,NA19382,NA19394,NA19403,NA19428,NA19430,NA19431,NA19455,NA19456,NA19470,NA19472,NA19649,NA19650,NA19708,NA19711,NA19714,NA19746,NA19762,NA19763,NA19782,NA19784,NA19788,NA19818,NA19828,NA19909,NA19919,NA20126,NA20127,NA20128,NA20287,NA20291,NA20292,NA20294,NA20295,NA20319,NA20344,NA20345,NA20347,NA20349,NA20350,NA20357,NA20359,NA20360,NA20527,NA20543,NA20769,NA20775,NA20786,NA20787,NA20849,NA20869,NA20872,NA20875,NA20877,NA20891,NA20902,NA20911,NA21091,NA21107,NA21115,NA21300,NA21303,NA21311,NA21313,NA21317,NA21333,NA21339,NA21352,NA21362,NA21371,NA21378,NA21379,NA21382,NA21400,NA21418,NA21421,NA21424,NA21425,NA21436,NA21441,NA21442,NA21451,NA21485,NA21491,NA21493,NA21494,NA21513,NA21514,NA21517,NA21520,NA21522,NA21574,NA21575,NA21580,NA21596,NA21599,NA21611,NA21613,NA21648,NA21683,NA21686,NA21784,NA21825 nsv441695 1 59816510 59830867 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FGGY nsv822887 1 59819298 59822406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425500,nssv1440813 M 31 0 2 FGGY AK4,NA18969 esv28159 1 59819319 59824956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19156,esv10585,esv11834 M 451 0 16 FGGY NA11931,NA12004,NA12006,NA12044,NA12156,NA12828,NA12878,NA18502,NA18523,NA18907,NA18909,NA18916,NA19114,NA19147,NA19190,NA19225 esv994342 1 59821214 59822246 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586465 S 3 0 1 FGGY HuRef dgv44n67 1 59821250 59822406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822909,nsv822898 M 31 0 8 FGGY AK10,AK18,AK6,NA18526,NA18542,NA18564,NA18582,NA18949 esv1008172 1 59821250 59824986 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586958 S 3 0 1 FGGY HuRef nsv822921 1 59821338 59824986 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423118 S 31 0 1 FGGY NA18999 nsv819226 1 59878705 59879763 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419163 S 2 1 0 FGGY AK1 nsv820893 1 59878725 59879912 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420336 S 1 0 1 FGGY NA10851 esv22806 1 59878829 59879691 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18842 S 451 32 0 FGGY NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 dgv45n67 1 59878829 59879912 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822943,nsv822932 M 31 22 0 FGGY AK12,AK14,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18999 nsv829993 1 59901614 59924564 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446839,nssv1446851,nssv1446828,nssv1446862 M 95 0 4 FGGY nsv819901 1 60081647 60085454 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419579 S 2 0 1 HOOK1 AK1 esv259663 1 60236343 60236772 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394075,essv2394395 M 6 0 0 Samples from several populations that are part of the HapMap project. C1orf87 NA19239,NA19240 esv259709 1 60236348 60236784 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400018,essv2398782,essv2399114,essv2396780,essv2396658,essv2398260,essv2397615,essv2395620,essv2396134,essv2395693,essv2394930,essv2400940,essv2400361,essv2400862,essv2397424,essv2399588,essv2397882,essv2395540,essv2398930,essv2399927,essv2397947,essv2400678,essv2399989,essv2396180,essv2395893,essv2398169,essv2397101,essv2394528,essv2395830,essv2394547,essv2397377,essv2398752,essv2401028,essv2399785,essv2397041,essv2400531 M 144 0 0 Samples from several populations that are part of the HapMap project. C1orf87 NA07051,NA07347,NA11920,NA12249,NA12414,NA12763,NA18489,NA18501,NA18523,NA18532,NA18545,NA18547,NA18555,NA18564,NA18566,NA18570,NA18577,NA18593,NA18603,NA18856,NA18907,NA18912,NA18940,NA18944,NA18945,NA18949,NA18951,NA18959,NA18961,NA18965,NA18980,NA19005,NA19099,NA19129,NA19239,NA19240 esv271154 1 60243158 60243391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511048,essv2511409,essv2493431,essv2493348,essv2505033,essv2497804,essv2504572,essv2511292,essv2512743,essv2496115,essv2507545,essv2511589,essv2493024,essv2497405,essv2503713,essv2495990,essv2503925,essv2495054,essv2504367 M 157 19 0 Samples from several populations that are part of the HapMap project. C1orf87 NA07037,NA07051,NA07347,NA11831,NA11920,NA12763,NA12776,NA12828,NA18555,NA18563,NA18570,NA18577,NA18603,NA18638,NA18940,NA18951,NA18959,NA18960,NA18961 esv1587281 1 60303273 60303273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940777 S 2 1 0 C1orf87 HuRef esv1751925 1 60324201 60324201 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590402 S 2 1 0 "" HuRef nsv520494 1 60383617 60401034 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694080 S 2026 0 1 "" nsv524844 1 60442564 60450036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700846 S 2026 0 1 "" nsv524288 1 60450036 60454461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700188 S 2026 0 1 "" esv269334 1 60487353 60487603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516481 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv269212 1 60488263 60488348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517934 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv506930 1 60592516 60598516 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617530 S 4 1 0 "" CHM nsv871565 1 60597570 60734756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576111 S 6533 0 1 "" IS33878 nsv1054 1 60777757 60811193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9195 S 9 1 0 "" NA12156 nsv871716 1 60809603 60847964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514242 S 6533 0 1 "" SP55986 esv271688 1 60917156 60917480 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557365,essv2557221,essv2561409,essv2549505,essv2570284,essv2531630,essv2575600,essv2560776,essv2530302 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18523,NA18564,NA18593,NA18961,NA19099,NA19116,NA19141 esv2113114 1 60970754 60971180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727283 S 1 0 1 "" NA18507 esv259442 1 61060584 61061033 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394197,essv2393954,essv2393825,essv2393662,essv2394006,essv2394299 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259854 1 61060598 61061050 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400224,essv2400038,essv2396074,essv2394772,essv2398608,essv2399062,essv2395850,essv2396730,essv2400314,essv2398465,essv2395284,essv2396553,essv2400928,essv2398887,essv2395799,essv2398110,essv2400270,essv2399956,essv2396673,essv2398650,essv2395390,essv2396678,essv2399179,essv2397271,essv2401095,essv2396931,essv2394717,essv2395256,essv2395630,essv2397665,essv2399906,essv2396594,essv2399259,essv2400650,essv2394975,essv2398560,essv2396485,essv2399332,essv2396109,essv2396066,essv2395108,essv2396318,essv2395492,essv2395542,essv2395737,essv2399422,essv2400101,essv2394657,essv2398429,essv2397944,essv2398233,essv2394418,essv2395473,essv2398336,essv2400972,essv2399288,essv2395682,essv2399763,essv2396386,essv2398042,essv2398116,essv2398693,essv2397215,essv2395983,essv2397059,essv2400509 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11993,NA11995,NA12004,NA12144,NA12154,NA12156,NA12414,NA12489,NA12749,NA12750,NA12776,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18537,NA18550,NA18558,NA18563,NA18593,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18943,NA18948,NA19093,NA19099,NA19102,NA19116,NA19129,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240 nsv521131 1 61109117 61109878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697805 S 2026 0 1 "" esv25296 1 61320290 61322326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19873 S 451 0 1 NFIA NA12156 nsv1065 1 61420119 61447271 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5607 S 9 1 0 NFIA NA19129 nsv1077 1 61570465 61604305 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2961 S 9 1 0 NFIA NA18555 nsv512741 1 61631222 61631624 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625368 S 1 1 0 NFIA 1 esv275289 1 61633690 61634339 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585133,essv2585952 M 1250 1 1 NFIA nsv161106 1 61732093 61735957 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179684 M 24 "" esv269032 1 61794180 61794265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515336 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv1088 1 61826154 61859016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5608 S 9 1 0 "" NA19129 nsv820220 1 61853831 61856325 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419438 S 2 1 0 "" AK1 esv2508963 1 61854956 61856467 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332870 S 1 0 1 "" NA18507 esv2291987 1 61855276 61856476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876772 S 1 0 1 "" NA18507 nsv822954 1 61855369 61856416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425502,nssv1440815,nssv1431076,nssv1421455,nssv1430346,nssv1423121,nssv1432152,nssv1424741,nssv1437941,nssv1437226,nssv1428027,nssv1424014 M 31 0 12 "" AK10,AK16,AK18,AK2,AK4,NA18592,NA18949,NA18951,NA18969,NA18972,NA18997,NA18999 nsv820380 1 61855369 61856456 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420347 S 1 0 1 "" NA10851 esv24970 1 61855399 61856327 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10947 S 451 11 11 "" NA07045,NA11894,NA11931,NA11995,NA12044,NA12156,NA12287,NA12414,NA12749,NA12878,NA15510,NA18505,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19147,NA19190,NA19225 nsv160205 1 61855446 61856289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178783 M 24 "" esv6698 1 61855455 61856287 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29139 S 1 0 1 "" SJK dgv46n67 1 61855664 61856416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822965,nsv822976 M 31 6 0 "" NA18526,NA18537,NA18547,NA18570,NA18582,NA18947 nsv508226 1 61863681 61913192 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620129 S 4 0 1 "" NA15510 nsv819394 1 61884829 61892114 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419819 S 2 0 1 "" AK1 esv21802 1 61885959 61892332 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14181 S 451 0 7 "" NA06985,NA07037,NA07045,NA12287,NA12749,NA12776,NA15510 nsv435721 1 61886002 61892933 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465984 S 2 0 1 "" NA15510 nsv822987 1 61886152 61892084 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440816,nssv1437942,nssv1433424,nssv1423122,nssv1431814 M 31 0 5 "" AK20,NA18526,NA18951,NA18969,NA18999 esv33569 1 61886378 61891818 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101554,essv98900,essv93876,essv100819,essv101009,essv95067,essv98249,essv94787,essv101360,essv94333,essv96959,essv97907,essv95593,essv95336,essv101746,essv95902,essv94548,essv99054,essv92690,essv96119,essv98576,essv93538,essv93198,essv99713,essv94975,essv99183,essv98465,essv94265 M 51 25 3 "" 21603,21606,21634,21656,21693,21721,21772,21791,21805,21808,21817,21837,21841,21872,21909,21911,21932,21938,21944,22007,22085,22128,22170,22217,22231,22275,22352,22394 esv2421667 1 61886594 61890775 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085969,essv5088655,essv5110273,essv5112357,essv5090988,essv5151519,essv5094063,essv5109138,essv5068019,essv5099899,essv5027097,essv5123637,essv5078263,essv5083291,essv5010006,essv5131921,essv5100466,essv5016298,essv5119198,essv5066781,essv5078832,essv5142976,essv5144044,essv5009163,essv5108810,essv5050562,essv5078022,essv5019096,essv5138839,essv5093059,essv5016036,essv5158107,essv5021820,essv5003433,essv5125797,essv5017071,essv5071789,essv5055015,essv5129524,essv5106569,essv5052826,essv5102908,essv5097802,essv5122117,essv5119789,essv5023824,essv5060236,essv5063782,essv5118607,essv5023714,essv5103729,essv5150837,essv5109369,essv5007925,essv5022935,essv5124133,essv5086013,essv5123815,essv5155033,essv5043568,essv5043061,essv5155137,essv5144212,essv5159102,essv5024247,essv5087987,essv5082239,essv5034973,essv5130037,essv5150401,essv5039537,essv5023093,essv5031068,essv5056003,essv5127413,essv5138800,essv5104116,essv5122332,essv5132182,essv5127853,essv5126290,essv5011213,essv5126892,essv5091099,essv5017406,essv5008384,essv5012109,essv5071948,essv5140526,essv5066567,essv5148497,essv5042132,essv5145849,essv5133475,essv5119782,essv5050600,essv5088599,essv5087068,essv5022770,essv5031711,essv5125433,essv5131470,essv5086374,essv5075873,essv5088616,essv5096340,essv5116977,essv5149275,essv5004922,essv5008922,essv5034626,essv5119177,essv5076461,essv5079001,essv5051423,essv5103650,essv5145369,essv5081030,essv5007237,essv5064209,essv5025655,essv5086465,essv5082899,essv5124011,essv5136234,essv5081134,essv5091620,essv5059389,essv5009828,essv5108999,essv5012759,essv5048142,essv5010828,essv5086898,essv5118646,essv5150746,essv5079668,essv5089704,essv5099818,essv5084784,essv5103847,essv5132609,essv5089447,essv5065809,essv5109607,essv5088049,essv5110136,essv5064709,essv5116171,essv5145155,essv5052083,essv5074760,essv5082131,essv5092199,essv5038016,essv5082791,essv5061602,essv5160396,essv5051859,essv5059931,essv5043603,essv5033563,essv5155354,essv5144058,essv5073550,essv5119691,essv5062869,essv5010956,essv5019227,essv5017349,essv5059742,essv5153182,essv5059248,essv5095881,essv5107236,essv5135631,essv5055577,essv5035186,essv5049209,essv5139230,essv5065586,essv5140510,essv5018079,essv5008935,essv5065600,essv5017594,essv5130584,essv5113747,essv5028375,essv5139433,essv5135571,essv5095195,essv5018311,essv5033954,essv5156186,essv5098488,essv5133176,essv5102342,essv5044362,essv5007489,essv5158709,essv5133004,essv5053947,essv5108005,essv5009624,essv5020640,essv5035842 M 1184 0 207 "" NA06985,NA06991,NA06993,NA06994,NA06995,NA07029,NA07037,NA07045,NA07345,NA07347,NA07348,NA07349,NA07357,NA10835,NA10837,NA10838,NA10855,NA10856,NA10865,NA11829,NA11830,NA11831,NA11891,NA12003,NA12155,NA12249,NA12272,NA12275,NA12286,NA12287,NA12335,NA12341,NA12383,NA12399,NA12718,NA12739,NA12749,NA12750,NA12751,NA12752,NA12760,NA12776,NA12801,NA12802,NA12813,NA12815,NA12832,NA12842,NA12865,NA12875,NA12877,NA12889,NA17965,NA17966,NA17987,NA17988,NA17996,NA18102,NA18112,NA18114,NA18132,NA18143,NA18147,NA18148,NA18149,NA18151,NA18152,NA18153,NA18154,NA18158,NA18162,NA18526,NA18529,NA18536,NA18546,NA18550,NA18558,NA18559,NA18593,NA18595,NA18599,NA18602,NA18603,NA18609,NA18610,NA18613,NA18614,NA18619,NA18627,NA18635,NA18637,NA18639,NA18641,NA18642,NA18643,NA18674,NA18682,NA18740,NA18747,NA18944,NA18948,NA18951,NA18959,NA18960,NA18961,NA18962,NA18965,NA18966,NA18967,NA18969,NA18971,NA18987,NA18999,NA19001,NA19005,NA19009,NA19058,NA19068,NA19078,NA19079,NA19081,NA19087,NA19248,NA19650,NA19652,NA19656,NA19661,NA19663,NA19664,NA19665,NA19670,NA19671,NA19676,NA19681,NA19684,NA19685,NA19686,NA19704,NA19720,NA19721,NA19747,NA19748,NA19749,NA19750,NA19755,NA19757,NA19777,NA19778,NA19779,NA19781,NA19835,NA19982,NA20292,NA20297,NA20302,NA20317,NA20319,NA20348,NA20502,NA20508,NA20528,NA20535,NA20543,NA20582,NA20588,NA20753,NA20771,NA20773,NA20774,NA20786,NA20796,NA20797,NA20799,NA20800,NA20802,NA20815,NA20849,NA20861,NA20871,NA20872,NA20875,NA20884,NA20891,NA20906,NA20907,NA21091,NA21099,NA21102,NA21115,NA21137,NA21143,NA21301,NA21317,NA21344,NA21366,NA21385,NA21399,NA21400,NA21401,NA21489,NA21490,NA21526,NA21527,NA21580,NA21582,NA21631,NA21722 nsv442877 1 61886594 61890775 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513987 1 61887204 61890756 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628180 S 1414 0 1 "" nsv830004 1 62015532 62154816 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446873 S 95 1 0 INADL nsv1099 1 62047905 62088531 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9211 S 9 0 1 INADL NA12156 dgv6n21 1 62052182 62290535 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522020,nsv518627 M 2026 0 2 INADL esv1631480 1 62109673 62109673 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051518 S 2 1 0 INADL HuRef esv2549769 1 62162356 62164182 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305658 S 1 0 1 INADL NA18507 esv2323512 1 62162970 62163733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506834 S 1 0 1 INADL NA18507 esv5270 1 62163138 62163616 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27711 S 1 0 1 Single Asian sample YH INADL YH nsv159038 1 62163175 62163523 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177616 M 24 INADL esv2472996 1 62163181 62163529 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202544 S 1 0 1 INADL NA18507 esv6133 1 62163188 62163533 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28574 S 1 0 1 INADL SJK esv1003515 1 62163188 62163536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579227 S 3 0 1 INADL HuRef esv1040191 1 62163190 62163539 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185967 S 2 0 1 INADL HuRef nsv1110 1 62168311 62227023 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9296 S 9 0 1 INADL NA18517 esv29630 1 62190379 62190889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18798 S 451 0 1 INADL NA18858 nsv437210 1 62192315 62220833 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467091 S 60 0 1 Samples from several populations that are part of the HapMap project. INADL NA19205 nsv10217 1 62206492 62225792 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12447,nssv16110,nssv16424 M 31 0 3 Samples from several populations that are part of the HapMap project. INADL NA18517,NA19132,NA19221 nsv517696 1 62209517 62214376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675663,nssv665354,nssv673772,nssv664719,nssv664968,nssv671365,nssv676169,nssv661867,nssv654435,nssv660368,nssv662958,nssv694621,nssv665406,nssv681293,nssv654241,nssv689496,nssv682090,nssv666544,nssv685685 M 2026 0 19 INADL nsv437211 1 62209517 62220833 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467092 S 60 0 1 Samples from several populations that are part of the HapMap project. INADL NA19221 esv26149 1 62210387 62224964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10531 S 451 0 2 INADL NA18517,NA19108 nsv818189 1 62210460 62214376 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418426 S 112 0 1 INADL NA19192 esv2421746 1 62210460 62223123 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5041711,essv5069978,essv5077911,essv5035069,essv5093878,essv5071831,essv5119967,essv5152829,essv5123089,essv5111807,essv5109065,essv5050581,essv5130823,essv5159581,essv5044846 M 1184 0 15 INADL NA18517,NA18861,NA19108,NA19118,NA19130,NA19132,NA19192,NA19203,NA19221,NA19222,NA19256,NA19258,NA19834,NA21403,NA21404 nsv438388 1 62214376 62215834 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470851,nssv470962,nssv470991,nssv470740,nssv470980,nssv471002 M 269 0 6 Samples from several populations that are part of the HapMap project. INADL NA19098,NA19100,NA19203,NA19205,NA19221,NA19222 esv268426 1 62346544 62346886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500400,essv2507882,essv2507659,essv2508700,essv2512878,essv2507568,essv2503687,essv2495120 M 157 8 0 Samples from several populations that are part of the HapMap project. INADL NA18537,NA18564,NA18576,NA18592,NA18609,NA18638,NA18960,NA18964 esv2514338 1 62375345 62376262 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269117 S 1 1 0 INADL NA18507 esv1091714 1 62375907 62375907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593286 S 2 1 0 INADL HuRef nsv822998 1 62386289 62388868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422375 S 31 0 1 INADL NA18552 nsv511694 1 62395128 62397132 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626334 S 1 0 1 INADL 1 esv997498 1 62395416 62396751 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587084 S 3 1 0 INADL HuRef nsv870842 1 62416706 62451790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571612 S 6533 1 0 L1TD1 IS32737 nsv819557 1 62425508 62430564 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419677 S 2 1 0 "" AK1 dgv47n67 1 62427253 62429802 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823009,nsv823020 M 31 0 16 "" AK16,AK20,AK4,AK8,NA18526,NA18542,NA18566,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18973,NA18997,NA18999 nsv821202 1 62427253 62429802 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420358 S 1 0 1 "" NA10851 esv24847 1 62427437 62429802 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15807 S 451 31 0 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2457868 1 62516577 62516636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342534 S 1 0 1 KANK4 NA18507 nsv520333 1 62539115 62542475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672010,nssv662976,nssv676248 M 2026 0 3 KANK4 nsv871893 1 62540541 62591655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542220 S 6533 1 0 KANK4 MS15714 nsv871250 1 62542475 62572039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545174 S 6533 1 0 KANK4 MS16707 nsv525191 1 62546291 62577307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701270 S 2026 0 1 KANK4 nsv870559 1 62829724 62886307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517709 S 6533 0 1 ANGPTL3,DOCK7 SP57367 esv2553332 1 62923799 62925525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273753 S 1 0 1 DOCK7 NA18507 esv2408644 1 62924218 62924957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603803 S 1 0 1 DOCK7 NA18507 esv5210 1 62924365 62924892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27651 S 1 0 1 Single Asian sample YH DOCK7 YH esv1006212 1 62924415 62924753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581424 S 3 0 1 DOCK7 HuRef esv1250656 1 62924416 62924755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942870 S 2 0 1 DOCK7 HuRef esv5823 1 62924420 62924744 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28264 S 1 0 1 DOCK7 SJK nsv159028 1 62924424 62924762 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177606 M 24 DOCK7 nsv830015 1 63033731 63227884 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446895,nssv1446884 M 95 2 0 ATG4C nsv1121 1 63146806 63181325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4256 S 9 1 0 "" NA12878 nsv522407 1 63165253 63168704 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695188 S 2026 1 0 "" nsv823032 1 63205441 63205978 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437944,nssv1436343 M 31 0 2 "" NA18542,NA18951 nsv461661 1 63214349 63381975 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538022 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00901 nsv160360 1 63234539 63234539 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178938 M 24 "" nsv159348 1 63254630 63258935 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177926 M 24 "" dgv48n67 1 63259532 63260287 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823054,nsv823043 M 31 2 0 "" AK10,NA18999 nsv160331 1 63284269 63284269 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178909 M 24 "" esv24886 1 63387241 63388521 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13715 S 451 0 3 "" NA19108,NA19190,NA19225 nsv823065 1 63410691 63411202 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426394 S 31 1 0 LINC00466 AK6 esv1006508 1 63476823 63481657 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565518 S 3 0 1 LINC00466 HuRef nsv511695 1 63477876 63480751 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626335 S 1 0 1 LINC00466 1 esv1000281 1 63477948 63480737 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576405 S 3 0 1 LINC00466 HuRef esv1348268 1 63477954 63480744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858650 S 2 0 1 LINC00466 HuRef esv5933 1 63477956 63480735 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28374 S 1 0 1 LINC00466 SJK esv21673 1 63507021 63508212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17225 S 451 0 1 LINC00466 NA18858 nsv461672 1 63526324 63775444 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538033 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALG6,EFCAB7,FOXD3,ITGB3BP,LINC00466 HGDP00935 nsv470714 1 63540185 63775444 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547732 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALG6,EFCAB7,FOXD3,ITGB3BP,LINC00466 HGDP00935 nsv1132 1 63606963 63625359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6639 S 9 0 1 ALG6 NA12156 nsv871017 1 63617806 63759045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514498 S 6533 0 1 ALG6,ITGB3BP SP56007 esv1543308 1 63638528 63638584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257015 S 2 0 1 ALG6 HuRef nsv871689 1 63681568 63787684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554578,nssv1565450 M 6533 0 2 DLEU2L,EFCAB7,ITGB3BP IS30432,MS20872 nsv870480 1 63681568 63842200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567921 S 6533 0 1 DLEU2L,EFCAB7,ITGB3BP,PGM1 IS31179 nsv830026 1 63715250 63733275 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446917,nssv1446928,nssv1446939,nssv1446906 M 95 1 3 ITGB3BP nsv510935 1 63757798 63778079 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621650 S 4 0 0 EFCAB7,ITGB3BP NA15510 nsv823076 1 63777628 63778123 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425504 S 31 1 0 EFCAB7 AK4 nsv1143 1 63809289 63839813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5623 S 9 1 0 EFCAB7,PGM1 NA19129 esv2499233 1 63908510 63911345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369634 S 1 0 1 "" NA18507 nsv461683 1 63938133 63965785 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538043 S 1557 0 1 "" NINDS_172 esv274012 1 63959773 63959858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581218 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv8740 1 64026118 64026214 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31181 S 1 1 0 ROR1 SJK nsv830037 1 64117961 64333956 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446950 S 95 1 0 ROR1 nsv871828 1 64134548 64275183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533303 S 6533 1 0 ROR1 MS11084 nsv1154 1 64166915 64201313 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9224 S 9 0 1 ROR1 NA12156 nsv823087 1 64219141 64220142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431077 S 31 0 1 ROR1 AK18 esv273965 1 64264336 64264664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580597,essv2579816 M 7 2 0 Samples from several populations that are part of the HapMap project. ROR1 NA19238,NA19240 esv269636 1 64284289 64284653 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509559 S 157 1 0 Samples from several populations that are part of the HapMap project. ROR1 NA19129 esv993189 1 64404029 64417025 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564882 S 3 0 1 ROR1 HuRef nsv871805 1 64406751 64468665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564842 S 6533 0 1 ROR1,UBE2U IS30311 esv23216 1 64435102 64437483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20526 S 451 0 1 "" NA19108 dgv55e1 1 64449736 64548984 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2543,esv492 M 271 0 0 UBE2U NA19003 esv1385597 1 64477405 64477463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007424 S 2 0 1 UBE2U HuRef nsv871531 1 64603980 64684881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515645 S 6533 0 1 "" SP56234 nsv830048 1 64605794 64783509 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446962 S 95 1 0 CACHD1 esv23183 1 64612208 64624695 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11146 S 451 0 3 "" NA18907,NA19099,NA19114 nsv442886 1 64615315 64624133 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513988 1 64616688 64621340 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628291 S 1414 0 1 "" esv997649 1 64621804 64623097 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564814 S 3 1 0 "" HuRef esv1055074 1 64653742 64653918 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740900 S 2 0 1 "" HuRef esv268167 1 64730627 64730976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516808,essv2514152,essv2518778,essv2514864,essv2515421,essv2514929,essv2517956,essv2515973,essv2514368,essv2517823,essv2516179,essv2516900,essv2517318,essv2513837,essv2515202,essv2518281 M 157 16 0 Samples from several populations that are part of the HapMap project. CACHD1 NA11881,NA12043,NA12045,NA12234,NA12249,NA12812,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19143,NA19238,NA19240 esv273854 1 64730636 64730973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581847,essv2582568,essv2583113,essv2584218,essv2583858 M 7 5 0 Samples from several populations that are part of the HapMap project. CACHD1 NA12878,NA12891,NA12892,NA19238,NA19240 esv1280177 1 64730666 64730666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249041 S 2 1 0 CACHD1 HuRef esv1980143 1 64740698 64741165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886636 S 1 0 1 CACHD1 NA18507 nsv522029 1 64776057 64776366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694120 S 2026 0 1 CACHD1 nsv508237 1 64895292 64917221 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620130 S 4 0 1 CACHD1 NA15510 nsv508249 1 64933551 64936666 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622764 S 4 0 1 "" NA18994 nsv159344 1 64960097 64965173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177922 M 24 "" esv2631331 1 64972586 64973977 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371991 S 1 0 1 "" NA18507 esv1956526 1 64972806 64973231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672956 S 1 0 1 "" NA18507 nsv158935 1 64972920 64973016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177513 M 24 "" esv1157098 1 64973022 64973119 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737271 S 2 0 1 "" HuRef nsv525227 1 65081975 65140630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701316 S 2026 0 1 JAK1 nsv823098 1 65091997 65092746 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424743 S 31 0 1 JAK1 AK2 nsv830059 1 65156318 65312749 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446973 S 95 0 1 JAK1,MIR101-1,MIR3671 esv275588 1 65200182 65207639 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586106 S 1250 0 1 JAK1 esv2421783 1 65201803 65202385 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135532,essv5063319,essv5160284,essv5156482,essv5010002,essv5029641,essv5066518,essv5151965,essv5143405,essv5006625,essv5140237,essv5020999,essv5156385,essv5086562,essv5065574,essv5041361,essv5139096,essv5125418,essv5036262,essv5038937,essv5063334,essv5069662,essv5075599,essv5106478,essv5145137,essv5094736,essv5088555,essv5037018,essv5018792,essv5109181,essv5030424,essv5083707,essv5009941,essv5085543,essv5095205,essv5146149,essv5142947,essv5116557,essv5138245,essv5058472,essv5155544,essv5058604,essv5058399,essv5055615,essv5160218,essv5016734,essv5137564,essv5093865,essv5087965,essv5102813,essv5013325,essv5149712,essv5066651,essv5136823,essv5138124,essv5032463,essv5057689,essv5090879,essv5131604,essv5090252,essv5008836,essv5092611,essv5160003,essv5103290,essv5019376,essv5073697,essv5043503,essv5030749,essv5156947,essv5004282,essv5072144,essv5087078,essv5131537,essv5149570,essv5009899,essv5049641,essv5143701,essv5137087,essv5052164,essv5160020,essv5101361,essv5028980,essv5079483,essv5086612,essv5029527,essv5129412,essv5152768,essv5153391,essv5152180,essv5144485,essv5016022,essv5035629,essv5054997,essv5152928,essv5033536 M 1184 0 95 JAK1 NA11829,NA17965,NA17966,NA17974,NA17986,NA17987,NA17990,NA17993,NA17996,NA18102,NA18106,NA18109,NA18112,NA18117,NA18118,NA18124,NA18132,NA18134,NA18135,NA18138,NA18139,NA18144,NA18146,NA18147,NA18149,NA18151,NA18156,NA18166,NA18529,NA18548,NA18550,NA18557,NA18558,NA18559,NA18561,NA18564,NA18566,NA18572,NA18577,NA18579,NA18594,NA18609,NA18610,NA18614,NA18615,NA18627,NA18628,NA18631,NA18642,NA18643,NA18645,NA18682,NA18702,NA18745,NA18942,NA18943,NA18945,NA18947,NA18948,NA18959,NA18960,NA18965,NA18966,NA18970,NA18990,NA18991,NA18995,NA18999,NA19001,NA19002,NA19007,NA19010,NA19066,NA19067,NA19068,NA19085,NA19652,NA19657,NA19708,NA20771,NA20805,NA20845,NA20849,NA20853,NA20858,NA20859,NA20879,NA20885,NA20894,NA20909,NA21105,NA21143,NA21436,NA21524,NA21525 nsv1165 1 65235489 65279954 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4638 S 9 0 1 "" NA19129 nsv522027 1 65398340 65406085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694797 S 2026 0 1 AK4 nsv871049 1 65450521 65481422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523807 S 6533 1 0 AK4 SP54217 esv2446769 1 65454206 65455820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287123 S 1 0 1 AK4 NA18507 esv2230166 1 65454637 65455374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671957 S 1 0 1 AK4 NA18507 nsv830070 1 65572509 65755242 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446984 S 95 1 0 DNAJC6,LEPR,LEPROT nsv528808 1 65624347 65751505 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705482 S 2026 1 0 DNAJC6,LEPR,LEPROT nsv830081 1 65658668 65835388 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446995 S 95 1 0 LEPR,LEPROT esv2521430 1 65681660 65683129 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360102 S 1 0 1 LEPR NA18507 esv2015767 1 65682018 65682685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727227 S 1 0 1 LEPR NA18507 esv4385 1 65682192 65682549 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26826 S 1 0 1 Single Asian sample YH LEPR YH esv2630441 1 65682225 65682494 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309866 S 1 0 1 LEPR NA18507 nsv160318 1 65682227 65682496 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178896 M 24 LEPR nsv1176 1 65685290 65730158 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9232 S 9 0 1 LEPR NA12156 nsv870752 1 65686295 65802909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520652,nssv1539993 M 6533 2 0 LEPR MS14639,SP51197 nsv823109 1 65695844 65796908 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431078 S 31 1 0 LEPR AK18 nsv870656 1 65697937 65764728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512920 S 6533 1 0 LEPR SP55652 nsv461705 1 65708082 65772622 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538062 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LEPR HGDP00972 dgv232n71 1 65708082 65795507 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871938,nsv870884 M 6533 2 0 LEPR SP52438,SP52506 esv2615796 1 65710713 65710886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352107 S 1 0 1 LEPR NA18507 nsv508260 1 65755900 65774886 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620131 S 4 0 1 LEPR NA15510 nsv1188 1 65769214 65820514 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9242,nssv4273 M 9 0 2 LEPR NA12156,NA12878 nsv436459 1 65796348 65803176 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465995 S 2 0 1 Samples from several populations that are part of the HapMap project. LEPR NA18505 nsv498671 1 65796761 65802871 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585383 S 9 0 1 LEPR esv2580170 1 65813019 65817261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341924 S 1 0 1 LEPR NA18507 esv1978491 1 65813346 65816686 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536103 S 1 0 1 LEPR NA18507 esv28812 1 65813514 65816341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11383 S 451 0 4 LEPR NA18508,NA19099,NA19129,NA19225 esv2464074 1 65813781 65815781 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382418 S 1 0 1 LEPR NA18507 esv2572647 1 65827186 65828213 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386875 S 1 1 0 LEPR NA18507 esv269871 1 65828494 65828827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557797,essv2575913,essv2540874,essv2546259,essv2521203,essv2525892,essv2542459,essv2536661,essv2523080,essv2544046,essv2570784,essv2568175,essv2545399,essv2577558,essv2548634,essv2521786,essv2576825,essv2525398,essv2550448,essv2535128,essv2553956,essv2520375,essv2547235,essv2529078,essv2558330,essv2559572,essv2564279,essv2537233,essv2528464,essv2547102,essv2539992,essv2520941,essv2557036,essv2552322,essv2551903,essv2532192,essv2562787,essv2569385,essv2578608,essv2569714,essv2561668,essv2544671,essv2563058,essv2523711,essv2553061,essv2541434,essv2538337,essv2542731,essv2524311,essv2564886,essv2534859,essv2561247,essv2539707,essv2549372,essv2519636,essv2559981,essv2566311,essv2531183,essv2532498,essv2568024,essv2529048,essv2567628,essv2541834,essv2570329,essv2563794,essv2553387,essv2535601,essv2572413,essv2559298,essv2566740,essv2551103,essv2543539,essv2556448,essv2539321,essv2533856,essv2578454,essv2555694,essv2567167,essv2566349,essv2529905,essv2573870,essv2556118,essv2522553,essv2531373,essv2573508,essv2543036,essv2577187,essv2529839,essv2575627,essv2574998,essv2538654,essv2560771,essv2523981,essv2560797,essv2574774,essv2568740,essv2549625,essv2571252,essv2545932,essv2574159,essv2551454,essv2538076,essv2547648,essv2563150 M 157 104 0 Samples from several populations that are part of the HapMap project. LEPR NA07000,NA07347,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12776,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18912,NA18916,NA18940,NA18945,NA18947,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19137,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv274382 1 65828494 65828827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581765,essv2582758,essv2583241,essv2584283,essv2584805,essv2583802 M 7 6 0 Samples from several populations that are part of the HapMap project. LEPR NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1474810 1 65828529 65828529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913332 S 2 1 0 LEPR HuRef esv2079710 1 65850691 65851118 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846369 S 1 0 1 LEPR NA18507 esv5181 1 65851669 65852098 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27622 S 1 0 1 Single Asian sample YH LEPR YH esv9112 1 65851744 65852030 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31553 S 1 0 1 LEPR SJK nsv819065 1 65872786 65873068 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419647 S 2 0 1 LEPR AK1 esv2361197 1 65908106 65908827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885197 S 1 0 1 "" NA18507 esv6029 1 65908299 65908630 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28470 S 1 0 1 "" SJK dgv233n71 1 65934049 65971306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870649,nsv871245 M 6533 0 3 "" IS36320,IS39438,IS40347 nsv437212 1 65942267 65957991 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467093 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 nsv516036 1 65942950 65944594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687281,nssv665855,nssv660026,nssv689389,nssv670460,nssv671693 M 2026 0 6 "" nsv159449 1 65946974 65950272 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178027 M 24 "" dgv234n71 1 65967827 66006727 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871170,nsv870675 M 6533 2 0 "" IS36320,IS39438 dgv3n17 1 65994344 66044724 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437214,nsv437215 M 60 0 2 PDE4B NA18860,NA19173 nsv871275 1 65994969 66026187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592530 S 6533 0 1 "" IS39243 nsv871881 1 65996109 66013434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569240,nssv1576198,nssv1568806 M 6533 0 3 "" IS31346,IS31554,IS33948 nsv437216 1 66030004 66044724 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467097 S 60 0 1 Samples from several populations that are part of the HapMap project. PDE4B NA18857 esv2584680 1 66035819 66037451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351160 S 1 0 1 PDE4B NA18507 esv1957663 1 66036414 66036991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512901 S 1 0 1 PDE4B NA18507 esv4724 1 66036433 66037080 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27165 S 1 0 1 Single Asian sample YH PDE4B YH esv2449251 1 66036498 66036830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279125 S 1 0 1 PDE4B NA18507 nsv160460 1 66036498 66036830 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179038 M 24 PDE4B nsv870457 1 66081313 66111636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514388 S 6533 0 1 PDE4B SP56004 esv270349 1 66283921 66284322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493307,essv2505851 M 157 2 0 Samples from several populations that are part of the HapMap project. PDE4B NA18504,NA18861 esv25256 1 66297831 66300355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16110 S 451 0 1 PDE4B NA15510 esv271003 1 66334851 66334936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513763 S 157 1 0 Samples from several populations that are part of the HapMap project. PDE4B NA19143 nsv506931 1 66337924 66343924 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619233 S 4 1 0 PDE4B NA10860 nsv1199 1 66474568 66497208 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4283 S 9 1 0 PDE4B NA12878 nsv461716 1 66508189 66539329 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538073 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDE4B HGDP01099 nsv159464 1 66601539 66601678 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178042 M 24 PDE4B nsv159040 1 66601844 66603938 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177618 M 24 PDE4B nsv871500 1 66603958 66687713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570942 S 6533 0 1 PDE4B IS32365 nsv518353 1 66623735 66635080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694063 S 2026 0 1 "" nsv521150 1 66623735 66677729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694421 S 2026 0 1 "" nsv520534 1 66629612 66638629 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697473 S 2026 1 0 "" nsv461729 1 66717946 66735494 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538086 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00643 nsv461740 1 66728466 66741672 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538097 S 1557 0 1 "" 1798860592_A esv23553 1 66731739 66732462 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11500 S 451 1 0 "" NA18511 esv8134 1 66731888 66731984 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30575 S 1 1 0 "" SJK nsv524963 1 66733303 66733710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700984 S 2026 0 1 "" nsv518465 1 66758965 66761174 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694064 S 2026 1 0 "" nsv1210 1 66789883 66805791 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9249 S 9 0 1 SGIP1 NA12156 nsv1221 1 66820496 66865284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7152 S 9 0 1 SGIP1 NA12156 nsv1232 1 66845498 66861033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2965 S 9 1 0 SGIP1 NA18555 nsv160302 1 66851605 66853397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178880 M 24 SGIP1 nsv830093 1 66946182 67120852 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447006 S 95 1 0 INSL5,SGIP1,TCTEX1D1,WDR78 esv997677 1 66959263 66966868 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565597 S 3 0 1 SGIP1 HuRef esv2571464 1 66973113 66974678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235477 S 1 0 1 SGIP1 NA18507 esv2094631 1 66973618 66974337 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654863 S 1 0 1 SGIP1 NA18507 esv4277 1 66973748 66974211 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26718 S 1 0 1 Single Asian sample YH SGIP1 YH esv6908 1 66973815 66974123 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29349 S 1 0 1 SGIP1 SJK esv1009176 1 67000464 67004528 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565004 S 3 0 1 TCTEX1D1 HuRef esv271769 1 67027788 67027881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494305,essv2506032,essv2505836,essv2507185,essv2509322,essv2498900,essv2497643,essv2502086 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18523,NA18861,NA18870,NA18909,NA19138,NA19147,NA19257 nsv818200 1 67041230 67054777 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417530 S 112 1 0 WDR78 NA18968 dgv235n71 1 67041230 67147794 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871259,nsv871738 M 6533 0 2 WDR78 IS31205,IS39923 nsv871177 1 67051782 67093404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500969 S 6533 0 1 WDR78 SP50725 nsv519580 1 67054777 67066731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656960,nssv705456,nssv662308,nssv662919,nssv676630,nssv677440,nssv698683 M 2026 0 7 WDR78 nsv871720 1 67130184 67207749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513904 S 6533 0 1 MIER1,WDR78 SP55878 esv273286 1 67196691 67197026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580177,essv2580429 M 7 2 0 Samples from several populations that are part of the HapMap project. MIER1 NA12878,NA12891 nsv461751 1 67252186 67461624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538108 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf141,IL23R,SLC35D1 HGDP01099 nsv506932 1 67267745 67273745 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619234 S 4 1 0 SLC35D1 NA10860 nsv461762 1 67323797 67421048 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538118 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf141,IL23R HGDP01368 nsv870950 1 67348137 67399848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588926 S 6533 1 0 C1orf141 IS38267 nsv1243 1 67472877 67517925 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7157 S 9 0 1 IL23R NA12156 nsv870652 1 67532728 67549609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508756 S 6533 0 1 IL12RB2 SP54725 nsv871374 1 67560563 67648121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591974 S 6533 0 1 IL12RB2,SERBP1 IS39119 nsv10228 1 67564981 67568759 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19763 S 31 1 0 Samples from several populations that are part of the HapMap project. IL12RB2 NA18972 nsv871075 1 67567907 67599604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503530 S 6533 1 0 IL12RB2 SP52077 nsv871879 1 67575520 67594035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499535 S 6533 0 1 IL12RB2 SP50128 nsv461773 1 67594965 67681232 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538129 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IL12RB2,SERBP1 HGDP00047 dgv236n71 1 67618744 67634991 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871227,nsv870838 M 6533 0 2 IL12RB2 SP52113,SP54381 nsv1254 1 67632752 67666617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1162 S 9 1 0 IL12RB2,SERBP1 NA19240 nsv524576 1 67710339 67718990 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700532 S 2026 1 0 "" nsv511696 1 67780119 67781599 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626336 S 1 0 1 "" 1 esv2439079 1 67780237 67782314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171405 S 1 0 1 "" NA18507 esv2238529 1 67780381 67781605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724128 S 1 0 1 "" NA18507 esv3800 1 67780524 67781508 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26241 S 1 0 1 Single Asian sample YH "" YH esv9709 1 67780599 67781439 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32150 S 1 0 1 "" SJK dgv49n67 1 67780751 67781513 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823120,nsv823131 M 31 11 0 "" AK10,AK14,AK6,NA18537,NA18552,NA18564,NA18942,NA18951,NA18972,NA18973,NA18999 nsv821071 1 67780751 67781513 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420369 S 1 0 1 "" NA10851 nsv1265 1 67807848 67831620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2160 S 9 1 0 "" NA18555 esv33021 1 67813930 67814120 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99498 S 51 0 1 "" 22335 esv32529 1 67843002 67843810 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99297 S 51 1 0 "" 22275 esv33652 1 67843693 67843997 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100924,essv97866,essv92756 M 51 3 0 "" 21693,21837,21944 nsv517964 1 67843970 67846229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695376 S 2026 0 1 "" nsv516001 1 67845515 67846229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692601,nssv678642,nssv665657 M 2026 0 3 "" nsv521648 1 67877774 67879093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698266 S 2026 0 1 "" nsv1276 1 67922224 67936256 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7165 S 9 0 1 GADD45A NA12156 esv1336934 1 67948197 67948273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133130 S 2 0 1 GNG12 HuRef esv1542404 1 67948375 67948477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663832 S 2 0 1 GNG12 HuRef esv273176 1 67981071 67981354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580979 S 7 1 0 Samples from several populations that are part of the HapMap project. GNG12 NA19238 nsv830104 1 68037921 68208334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447017 S 95 1 0 GNG12,LOC100289178 nsv517355 1 68349987 68354587 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673300,nssv701730,nssv666740,nssv684789,nssv678466,nssv669270,nssv687389,nssv675437,nssv688322,nssv677762,nssv682691,nssv654685,nssv654659,nssv695869,nssv653232,nssv672344,nssv673553,nssv676840,nssv651805,nssv651879,nssv678266,nssv670773,nssv679887,nssv679212,nssv690120,nssv669543,nssv672613,nssv667280,nssv658667,nssv681325,nssv652333,nssv685631,nssv701342,nssv658487,nssv677716,nssv658373,nssv669618 M 2026 2 35 LOC100289178,WLS nsv522414 1 68354428 68355170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695197 S 2026 0 1 LOC100289178,WLS nsv522557 1 68412941 68415679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705939 S 2026 0 1 LOC100289178,WLS nsv518820 1 68426864 68440271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696273 S 2026 0 1 LOC100289178,WLS nsv870722 1 68498495 68519095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501277 S 6533 0 1 "" SP51145 esv993659 1 68500474 68500474 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577299 S 3 1 0 "" HuRef nsv871753 1 68508487 68551712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502198 S 6533 0 1 "" SP50754 nsv508014 1 68508792 68514792 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621468,nssv624211,nssv622289 M 4 0 3 "" NA10860,NA15510,NA18994 nsv506933 1 68553576 68559576 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619235,nssv617531,nssv620656,nssv623269 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2124751 1 68660850 68661299 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892699 S 1 0 1 "" NA18507 esv2629888 1 68792056 68794298 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202361 S 1 0 1 "" NA18507 esv259801 1 68827808 68828153 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396731,essv2395270,essv2398916,essv2397564,essv2398083,essv2400755,essv2395401,essv2397964,essv2399174,essv2399753,essv2397711,essv2396476,essv2395035,essv2396168,essv2396297,essv2400132,essv2394658,essv2397934,essv2394584,essv2395193,essv2398026,essv2397222 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11918,NA11995,NA12044,NA12144,NA12717,NA12749,NA12751,NA12776,NA12828,NA18502,NA18517,NA18519,NA18523,NA18558,NA18861,NA18870,NA18907,NA18965,NA19108,NA19147,NA19225 nsv522218 1 68843040 68859905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694145 S 2026 0 1 "" nsv527722 1 68984641 69095810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704203 S 2026 0 1 "" esv1532177 1 69003210 69003348 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655409 S 2 0 1 "" HuRef dgv237n71 1 69095810 69218869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870641,nsv871131 M 6533 0 2 "" IS31335,IS40627 nsv508271 1 69295310 69319957 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620132 S 4 0 1 "" NA15510 nsv508015 1 69312908 69318908 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624212 S 4 0 1 "" NA18994 esv9447 1 69314294 69314397 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31888 S 1 1 0 "" SJK nsv830115 1 69366082 69509583 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447028 S 95 1 0 "" nsv1287 1 69421303 69456215 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4293 S 9 1 0 "" NA12878 nsv1299 1 69459815 69504813 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7173 S 9 0 1 "" NA12156 nsv1310 1 69526124 69571221 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7182 S 9 0 1 "" NA12156 nsv870931 1 69538180 69731649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510570 S 6533 1 0 "" SP54967 nsv1321 1 69573626 69619442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6648 S 9 0 1 "" NA12156 esv2616575 1 69579218 69580942 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193894 S 1 0 1 "" NA18507 esv2135896 1 69579389 69580084 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789933 S 1 0 1 "" NA18507 esv3304 1 69579478 69580017 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25745 S 1 0 1 Single Asian sample YH "" YH esv5500 1 69579576 69579935 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27941 S 1 0 1 "" SJK nsv160388 1 69579581 69579899 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178966 M 24 "" esv1191966 1 69579592 69579911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657881 S 2 0 1 "" HuRef nsv1332 1 69666943 69677806 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7197 S 9 0 1 "" NA12156 esv2271565 1 69716134 69716806 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677248 S 1 0 1 "" NA18507 esv4719 1 69716232 69716670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27160 S 1 0 1 Single Asian sample YH "" YH esv2518942 1 69716304 69716609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276111 S 1 0 1 "" NA18507 esv1350326 1 69716313 69716619 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163751 S 2 0 1 "" HuRef esv6225 1 69716314 69716628 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28666 S 1 0 1 "" SJK nsv436273 1 69768614 69775243 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466006 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv29466 1 69768981 69774797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20770 S 451 0 3 "" NA18505,NA18517,NA19108 nsv830126 1 69787467 69940567 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447039 S 95 1 0 "" esv2599141 1 69799188 69800948 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305113 S 1 0 1 "" NA18507 esv2329340 1 69799746 69800448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894374 S 1 0 1 "" NA18507 esv9169 1 69799904 69800265 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31610 S 1 0 1 "" SJK esv2548607 1 69827280 69827386 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174702 S 1 0 1 "" NA18507 esv271782 1 69834219 69834567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518793,essv2514773,essv2515117,essv2516112,essv2514257,essv2517651,essv2516271,essv2516879 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12234,NA12812,NA12873,NA12874,NA12878,NA12891,NA12892 esv272486 1 69834224 69834562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581865,essv2582609,essv2582922 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271435 1 69840721 69840959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496810,essv2510528,essv2509071,essv2505303,essv2510894,essv2511974,essv2501920,essv2498217 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18522,NA18853,NA19116,NA19238,NA19239,NA19240 esv272998 1 69840733 69841015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579091,essv2579673 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv273553 1 69863614 69863809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580573 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268770 1 69863622 69863707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519228,essv2515476,essv2515699,essv2517932,essv2517181,essv2515267,essv2518377 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12249,NA12815,NA12872,NA18970,NA19238,NA19240 esv273789 1 69866002 69866478 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580525,essv2579379,essv2579443 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271290 1 69866009 69866195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500316,essv2495777,essv2513076 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA12891 esv267530 1 69878924 69879146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496251,essv2494858,essv2493967,essv2506949,essv2506409,essv2498829 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18519,NA18871,NA19102,NA19108,NA19138 nsv461784 1 70004123 70078833 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538136 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRC7 HGDP01285 esv269382 1 70013089 70013437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511922,essv2504222,essv2501415 M 157 3 0 Samples from several populations that are part of the HapMap project. LRRC7 NA18499,NA18505,NA19093 nsv521307 1 70055463 70061235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697913 S 2026 0 1 LRRC7 esv2617051 1 70130092 70131918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170751 S 1 0 1 LRRC7 NA18507 nsv525370 1 70134421 70139675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701490 S 2026 0 1 LRRC7 esv1094257 1 70154389 70154389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313496 S 2 1 0 LRRC7 HuRef esv1056018 1 70154433 70154433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635647 S 2 1 0 LRRC7 HuRef nsv512742 1 70154435 70155149 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625369 S 1 1 0 LRRC7 1 esv269688 1 70184910 70184995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514665,essv2517416 M 157 2 0 Samples from several populations that are part of the HapMap project. LRRC7 NA11840,NA11918 nsv871018 1 70222612 70268967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505498 S 6533 0 1 LRRC7 SP53583 nsv526839 1 70232474 70248382 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703196 S 2026 1 0 LRRC7 dgv18n27 1 70248382 70339569 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461806,nsv461795 M 1557 0 2 LRRC7 1780862003_A,1780862459_A nsv871339 1 70378323 70407051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499613 S 6533 0 1 LRRC40 SP50144 nsv870841 1 70385004 70469142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507177 S 6533 0 1 LRRC40,SRSF11 SP54490 nsv823143 1 70420622 70422873 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428031,nssv1435658 M 31 0 2 LRRC40 AK10,NA18566 nsv1343 1 70437757 70469588 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10021 S 9 1 0 LRRC40,SRSF11 NA18956 nsv871898 1 70454074 70495935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515323 S 6533 0 1 SRSF11 SP56172 nsv871430 1 70538247 70592500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508712 S 6533 0 1 ANKRD13C SP54579 nsv830137 1 70538509 70731306 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447050 S 95 0 1 ANKRD13C,CTH,HHLA3 esv2555384 1 70540011 70541453 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363733 S 1 0 1 ANKRD13C NA18507 esv1997734 1 70540513 70541213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539725 S 1 0 1 ANKRD13C NA18507 esv4055 1 70540662 70541080 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26496 S 1 0 1 Single Asian sample YH ANKRD13C YH esv27106 1 70593179 70597702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11736 S 451 0 1 HHLA3 NA19225 nsv871100 1 70631985 70701374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560153 S 6533 1 0 CTH MS24343 nsv461828 1 70653305 70694948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538174 S 1557 0 1 CTH 1782681216_A nsv522935 1 70659771 70660689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698598 S 2026 0 1 CTH esv271400 1 70684983 70685323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515322,essv2517741 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12878 esv273209 1 70684983 70685323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581473 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2451764 1 70718037 70719760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236686 S 1 0 1 "" NA18507 esv2293248 1 70718587 70719298 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693930 S 1 0 1 "" NA18507 esv4053 1 70718749 70719245 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26494 S 1 0 1 Single Asian sample YH "" YH esv1546564 1 70718793 70719124 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252933 S 2 0 1 "" HuRef esv7379 1 70718801 70719111 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29820 S 1 0 1 "" SJK nsv871024 1 70860694 70942453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545939 S 6533 1 0 "" MS17056 nsv871703 1 70866393 70899649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536361 S 6533 1 0 "" MS12727 esv1583796 1 70885855 70885855 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299396 S 2 1 0 "" HuRef esv33887 1 70894407 70897146 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99773 S 51 0 1 "" 22086 nsv517877 1 70910524 70914790 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695284 S 2026 1 0 "" nsv526237 1 70914756 70918410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702505 S 2026 0 1 "" esv2461343 1 70920779 70922258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290277 S 1 0 1 "" NA18507 esv2223167 1 70921221 70921812 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762886 S 1 0 1 "" NA18507 esv24168 1 71009946 71012899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17158 S 451 0 2 "" NA18858,NA18907 esv26722 1 71016694 71022161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18463 S 451 0 1 "" NA12004 nsv516651 1 71077666 71079337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669897,nssv656299 M 2026 0 2 "" nsv830148 1 71082954 71256520 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447061 S 95 1 0 PTGER3 nsv871604 1 71125692 71134261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519761 S 6533 1 0 PTGER3 SP50544 esv994407 1 71141275 71144923 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565316 S 3 1 0 PTGER3 HuRef nsv871313 1 71164234 71262026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563368 S 6533 0 1 PTGER3 MS25976 nsv516212 1 71194152 71241081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655781,nssv666846,nssv680621 M 2026 0 3 PTGER3 nsv871222 1 71200430 71246379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593117,nssv1576861,nssv1596768,nssv1573623,nssv1587652 M 6533 0 5 PTGER3 IS33475,IS34289,IS38087,IS39361,IS40635 nsv871141 1 71212805 71226140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557511 S 6533 0 1 PTGER3 MS22741 nsv461851 1 71215214 71280129 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538190 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTGER3 HGDP01303 dgv238n71 1 71237880 71262026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870843,nsv870576 M 6533 0 2 PTGER3 MS24528,MS25963 nsv870734 1 71242171 71257624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527851 S 6533 0 1 PTGER3 SP81040 nsv871812 1 71253638 71262026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551505,nssv1554722,nssv1586443,nssv1560211,nssv1600261,nssv1584410,nssv1577249 M 6533 0 7 PTGER3 IS34400,IS36990,IS37801,IS41866,MS18916,MS20947,MS24373 nsv871242 1 71253638 71291914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575397 S 6533 0 1 LOC100132618,PTGER3 IS33738 nsv871147 1 71257155 71266953 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519762 S 6533 1 0 PTGER3 SP50544 nsv521769 1 71351030 71406307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694536 S 2026 0 1 "" nsv870650 1 71363465 71415565 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513139 S 6533 1 0 "" SP55690 nsv818211 1 71376291 71406307 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417325 S 112 1 0 "" NA18608 nsv511697 1 71512212 71514999 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626337 S 1 0 1 "" 1 esv2595054 1 71513333 71514924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209205 S 1 0 1 "" NA18507 esv1921566 1 71513718 71514429 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735718 S 1 0 1 "" NA18507 esv3994 1 71513842 71514290 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26435 S 1 0 1 Single Asian sample YH "" YH esv5496 1 71513902 71514297 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27937 S 1 0 1 "" SJK esv997283 1 71513907 71514216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572212 S 3 0 1 "" HuRef esv1633019 1 71513920 71514230 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711044 S 2 0 1 "" HuRef nsv830159 1 71544896 71682448 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447074 S 95 1 0 NEGR1 dgv19n27 1 71621625 71710282 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461862,nsv461873 M 1557 2 0 NEGR1 HGDP01234,HGDP01242 nsv830170 1 71629035 71781346 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447085 S 95 1 0 NEGR1 nsv526840 1 71685500 71690707 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703197 S 2026 1 0 NEGR1 esv1009711 1 71809497 71814539 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563850 S 3 1 0 NEGR1 HuRef esv275261 1 71812942 71817568 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585672 S 1250 0 1 NEGR1 nsv461895 1 71852486 71979387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538221 S 1557 0 1 NEGR1 NINDS_130 nsv871330 1 71877035 71912987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504590 S 6533 0 1 NEGR1 SP52656 nsv830181 1 71928571 72069166 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447096 S 95 1 0 NEGR1 esv2609491 1 71958516 71959877 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225742 S 1 0 1 NEGR1 NA18507 esv2459000 1 72031207 72032271 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381402 S 1 1 0 NEGR1 NA18507 esv1377110 1 72031535 72031535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231744 S 2 1 0 NEGR1 HuRef dgv239n71 1 72073556 72148850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870762,nsv871908 M 6533 0 2 NEGR1 SP53041,SP57266 esv992761 1 72132309 72133477 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587168 S 3 0 1 NEGR1 HuRef esv27109 1 72132674 72133716 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11316 S 451 2 0 NEGR1 NA18511,NA18916 esv1246885 1 72166426 72166426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799312 S 2 1 0 NEGR1 HuRef nsv512743 1 72166628 72167707 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625370 S 1 1 0 NEGR1 1 nsv508016 1 72198917 72204917 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621469 S 4 0 1 NEGR1 NA15510 nsv1354 1 72203752 72248110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2161 S 9 0 1 NEGR1 NA18555 esv4720 1 72222102 72222751 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27161 S 1 0 1 Single Asian sample YH NEGR1 YH dgv50n67 1 72222105 72222572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823154,nsv823165 M 31 4 0 NEGR1 AK6,NA18949,NA18951,NA18999 nsv821519 1 72222105 72222572 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420380 S 1 0 1 NEGR1 NA10851 esv8759 1 72222174 72222666 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31200 S 1 0 1 NEGR1 SJK nsv818223 1 72249809 72255233 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417531 S 112 1 0 NEGR1 NA18968 nsv428454 1 72277057 72698844 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450265 S 62 0 1 NEGR1 NA19108 esv2595732 1 72286214 72287290 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282792 S 1 1 0 NEGR1 NA18507 esv273917 1 72286672 72287011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581623 S 7 1 0 Samples from several populations that are part of the HapMap project. NEGR1 NA12878 esv269005 1 72286674 72287005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521343,essv2531730,essv2525238,essv2520063,essv2561816,essv2537616,essv2530488,essv2557295,essv2532399,essv2550137,essv2569768,essv2544648,essv2523526,essv2541194,essv2524414,essv2534596,essv2539680,essv2549390,essv2559949,essv2566237,essv2532628,essv2541811,essv2563897,essv2572350,essv2543526,essv2533890,essv2555649,essv2573951,essv2534416,essv2573402,essv2543192,essv2529782,essv2575325,essv2538609,essv2560702,essv2574560,essv2568807,essv2560491,essv2549806,essv2547832 M 157 40 0 Samples from several populations that are part of the HapMap project. NEGR1 NA07347,NA11894,NA12006,NA12156,NA12815,NA12874,NA12878,NA18486,NA18499,NA18505,NA18511,NA18520,NA18526,NA18537,NA18545,NA18555,NA18561,NA18563,NA18564,NA18570,NA18572,NA18576,NA18592,NA18603,NA18609,NA18870,NA18916,NA18945,NA18951,NA18959,NA18964,NA18965,NA19093,NA19102,NA19108,NA19116,NA19138,NA19147,NA19190,NA19225 dgv240n71 1 72306515 72384303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870851,nsv870742 M 6533 0 2 NEGR1 SP56004,SP56154 nsv470715 1 72379006 72432468 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547733 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NEGR1 HGDP01301 nsv528210 1 72379006 72432468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704771 S 2026 0 1 NEGR1 nsv1365 1 72383623 72402520 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7205 S 9 0 1 NEGR1 NA12156 nsv830192 1 72389150 72578706 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447118,nssv1447129,nssv1447107 M 95 3 0 NEGR1 nsv516389 1 72394051 72429646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691817,nssv667959 M 2026 0 2 NEGR1 nsv461951 1 72407500 72479814 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538258 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NEGR1 HGDP01337 esv2528141 1 72410963 72411881 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241865 S 1 1 0 NEGR1 NA18507 nsv508017 1 72485317 72491317 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622290 S 4 0 1 NEGR1 NA10860 nsv1376 1 72507166 72595974 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6658,nssv10026,nssv9515,nssv2178,nssv10935,nssv9301,nssv5633,nssv4300 M 9 0 8 NEGR1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129 nsv254 1 72507579 72595782 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv254 S 1 0 1 NEGR1 NA15510 dgv56e1 1 72514984 72659401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18231,essv6573,essv5187,essv9974,essv15083,essv9072,essv20098,essv19971,essv8162,essv23019,esv340,essv13838,essv19534,essv7142,essv21429,essv18931,essv6180,essv20234 M 271 0 0 NEGR1 NA07048,NA12005,NA12057,NA12144,NA12717,NA12812,NA12813,NA12864,NA18532,NA18547,NA18611,NA18621,NA18854,NA19099,NA19129,NA19132,NA19206 esv33679 1 72519167 72523215 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98657,essv93634,essv99853 M 51 3 0 NEGR1 21606,21972,22086 nsv830204 1 72522439 72711159 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447140 S 95 1 0 "" nsv511137 1 72523773 72537704 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624821 S 1 0 1 "" 1 esv1007188 1 72526539 72538645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563729 S 3 0 1 "" HuRef nsv435635 1 72526998 72537535 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466017 S 2 0 1 "" NA15510 nsv511698 1 72527749 72536663 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626338 S 1 0 1 "" 1 esv33344 1 72527759 72536260 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101491,essv97530,essv96756,essv95074,essv98257,essv94836,essv94014,essv101341,essv94402,essv96979,essv97870,essv95702,essv93101,essv95333,essv101618,essv95831,essv98939,essv92867,essv93632,essv96169,essv97186,essv98619,essv99981,essv93462,essv99643,essv94946,essv98037,essv100290,essv99539,essv94221 M 51 29 1 "" 21603,21616,21659,21721,21772,21791,21802,21805,21808,21817,21837,21841,21863,21872,21909,21911,21938,21939,21972,22007,22075,22085,22086,22128,22217,22231,22259,22300,22335,22394 nsv10239 1 72527787 72537592 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15100,nssv16440,nssv13768,nssv12427,nssv16754 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA11830,NA12802,NA18517,NA19144,NA19221 esv24673 1 72527959 72536624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16390 S 451 0 7 "" NA12156,NA15510,NA18508,NA18517,NA18523,NA19147,NA19190 nsv510891 1 72528173 72592186 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618632 S 4 0 0 "" CHM nsv823176 1 72528192 72536183 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434172 S 31 0 1 "" NA18570 nsv513989 1 72528416 72536288 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628402 S 1414 0 0 "" esv2422096 1 72528637 72535958 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5002045,essv5084009,essv5090927,essv5096827,essv5033067,essv5011912,essv5113965,essv5069944,essv5061583,essv5110254,essv5054768,essv5038851,essv5060638,essv5007522,essv5016685,essv5002241,essv5082267,essv5074707,essv5095531,essv5069835,essv5080391,essv5070429,essv5072698,essv5113846,essv5025236,essv5048950,essv5094276,essv5156316,essv5067205,essv5071321,essv5127097,essv5128156,essv5056706,essv5053180,essv5137712,essv5005879,essv5051082,essv5063732,essv5139143,essv5109321,essv5058712,essv5037083,essv5064582,essv5082623,essv5109775,essv5021039,essv5153925,essv5144595,essv5042390,essv5019846,essv5004972,essv5053574,essv5121697,essv5044291,essv5092619,essv5141944,essv5042271,essv5154703,essv5028225,essv5084939,essv5120645,essv5111959,essv5059211,essv5093656,essv5020402,essv5140437,essv5159625,essv5159283,essv5057198,essv5043948,essv5037758,essv5004222,essv5081703,essv5112798,essv5017550,essv5041705,essv5107681,essv5102441,essv5137822,essv5009671,essv5059103,essv5098696,essv5010522,essv5032045,essv5088426,essv5114341,essv5138080,essv5108672,essv5076087,essv5037723,essv5017910,essv5059930,essv5017446,essv5120479,essv5150945,essv5102640,essv5156445,essv5080650,essv5080131,essv5097177,essv5056670,essv5038663,essv5142346,essv5144420,essv5120096,essv5135507,essv5096614,essv5045344,essv5055600,essv5016689,essv5051087,essv5013496,essv5004903,essv5070262,essv5101945,essv5121628,essv5012488,essv5136907,essv5013466,essv5010529,essv5053145,essv5134014,essv5075640,essv5024781,essv5141515,essv5023216,essv5154334,essv5007209,essv5083860,essv5017301,essv5110204,essv5137561,essv5046636,essv5095173,essv5076670,essv5025084,essv5048868,essv5068690,essv5030248,essv5103219,essv5128781,essv5014838,essv5097081,essv5063073,essv5156245,essv5030073,essv5058916,essv5143358,essv5043973,essv5156988,essv5006826,essv5104590,essv5120784,essv5024181,essv5045331,essv5079562,essv5010938,essv5088859,essv5094339,essv5007358,essv5055256,essv5071595,essv5113976,essv5005231,essv5102986 M 1184 0 165 "" NA06991,NA06993,NA07000,NA07022,NA07347,NA10830,NA10835,NA10843,NA10850,NA10852,NA10856,NA11830,NA11832,NA11918,NA11920,NA12043,NA12045,NA12156,NA12248,NA12273,NA12335,NA12341,NA12375,NA12383,NA12386,NA12399,NA12400,NA12413,NA12708,NA12718,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12767,NA12778,NA12802,NA12814,NA12815,NA12829,NA12842,NA12843,NA12873,NA12874,NA17966,NA18508,NA18510,NA18516,NA18517,NA18550,NA18570,NA18861,NA18863,NA18868,NA18912,NA19031,NA19036,NA19054,NA19059,NA19079,NA19117,NA19138,NA19139,NA19144,NA19147,NA19178,NA19190,NA19191,NA19193,NA19194,NA19203,NA19221,NA19222,NA19236,NA19247,NA19248,NA19249,NA19318,NA19334,NA19350,NA19360,NA19372,NA19376,NA19390,NA19625,NA19651,NA19653,NA19657,NA19659,NA19684,NA19708,NA19712,NA19760,NA19773,NA19779,NA19780,NA19781,NA19834,NA19836,NA19900,NA19982,NA20126,NA20276,NA20277,NA20279,NA20282,NA20288,NA20289,NA20290,NA20301,NA20319,NA20332,NA20502,NA20516,NA20517,NA20519,NA20520,NA20525,NA20527,NA20534,NA20541,NA20543,NA20757,NA20758,NA20761,NA20765,NA20774,NA20790,NA20792,NA20795,NA20797,NA20799,NA20803,NA20805,NA20807,NA20808,NA20809,NA20811,NA20816,NA20828,NA20853,NA20881,NA20882,NA20896,NA20898,NA20900,NA21097,NA21102,NA21106,NA21108,NA21116,NA21336,NA21364,NA21417,NA21453,NA21455,NA21513,NA21514,NA21517,NA21576,NA21577,NA21635 nsv442903 1 72528701 72535958 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv508282 1 72535680 72592186 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622766 S 4 0 1 "" NA18994 nsv437222 1 72537704 72550161 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467103 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19154 dgv4n17 1 72537704 72561278 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437220,nsv437225 M 60 0 2 "" NA19129,NA19202 dgv5n17 1 72537704 72585028 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437218,nsv437217,nsv437221,nsv437223,nsv437219 M 60 0 5 "" NA18500,NA18506,NA18515,NA19145,NA19161 esv2579314 1 72538330 72584647 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275117 S 1 0 1 "" NA18507 esv995847 1 72538365 72584745 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565326 S 3 0 1 "" HuRef esv2480676 1 72538468 72585074 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369149 S 1 0 1 "" NA18507 dgv2n16 1 72538468 72586954 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436617,nsv435862 M 2 0 2 "" NA15510,NA18505 esv2422081 1 72538673 72583736 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5025287,essv5051408,essv5108841,essv5042199,essv5086063,essv5095001,essv5029090,essv5140130,essv5116920,essv5090457,essv5035265,essv5160902,essv5126156,essv5094138,essv5113044,essv5013886,essv5039658,essv5064477,essv5067591,essv5035162,essv5108165,essv5105307,essv5110879,essv5002203,essv5137601,essv5155093,essv5072267,essv5142144,essv5110193,essv5078458,essv5149301,essv5110537,essv5066131,essv5015474,essv5090998,essv5061208,essv5064810,essv5113499,essv5114154,essv5126400,essv5020586,essv5078334,essv5058147,essv5051038,essv5133595,essv5115766,essv5051805,essv5120945,essv5073346,essv5002732,essv5039551,essv5025370,essv5104806,essv5006960,essv5047908,essv5004487,essv5092186,essv5114652,essv5123330,essv5036251,essv5022849,essv5112690,essv5058572,essv5120282,essv5087528,essv5094084,essv5115235,essv5020439,essv5037280,essv5099653,essv5158094,essv5025135,essv5100230,essv5138519,essv5075724,essv5031519,essv5133189,essv5021834,essv5042745,essv5156558,essv5076784,essv5153372,essv5044685,essv5119974,essv5152924,essv5046306,essv5003170,essv5147852,essv5029237,essv5090634,essv5160921,essv5034920,essv5142867,essv5082936,essv5132380,essv5085806,essv5043244,essv5076274,essv5147904,essv5058341,essv5090589,essv5070538,essv5145554,essv5149079,essv5159360,essv5127179,essv5157037,essv5109477,essv5077051,essv5111489,essv5033995,essv5031149,essv5084714,essv5081300,essv5041226,essv5031145,essv5150229,essv5018239,essv5095348,essv5150508,essv5136877,essv5069327,essv5073512,essv5067016,essv5006325,essv5049846,essv5149476,essv5041746,essv5058617,essv5063431,essv5156836,essv5157753,essv5012930,essv5155268,essv5057590,essv5053563,essv5014044,essv5100124,essv5140897,essv5027832,essv5129511,essv5096181,essv5056185,essv5152487,essv5052692,essv5127268,essv5083187,essv5075552,essv5141444,essv5126743,essv5022566,essv5080660,essv5081613,essv5037142,essv5112904,essv5020596,essv5005754,essv5084852,essv5145993,essv5026097,essv5057686,essv5134187,essv5065540,essv5084436,essv5112675,essv5048302,essv5105439,essv5111597,essv5009195,essv5092947,essv5055861,essv5134689,essv5048288,essv5105686,essv5040827,essv5047168,essv5133869,essv5106059,essv5039041,essv5035161,essv5044299,essv5016648,essv5022049,essv5139797,essv5016656,essv5078387,essv5037826,essv5029568,essv5126658,essv5060655,essv5148558,essv5107859,essv5046027,essv5141192,essv5028184,essv5126312,essv5008494,essv5048564,essv5069549,essv5137348,essv5139170,essv5126356,essv5087701,essv5119651,essv5031418,essv5043432,essv5103310,essv5098863,essv5016969,essv5102526,essv5124692,essv5063422,essv5006425,essv5050336,essv5119431,essv5095412,essv5027772,essv5024191,essv5147674,essv5022387,essv5035662,essv5005712,essv5065841,essv5105844,essv5092136,essv5024489,essv5060757,essv5061918,essv5088126,essv5072810,essv5123430,essv5083964,essv5069306,essv5129976,essv5116029,essv5051503,essv5056807,essv5071031,essv5129644,essv5010454,essv5068456,essv5155769,essv5142177,essv5127889,essv5071558,essv5054905,essv5058429,essv5021136,essv5050436,essv5095307,essv5096262,essv5032690,essv5026961,essv5012293,essv5076300,essv5148977,essv5127668,essv5038297,essv5065756,essv5095362,essv5113341,essv5144579,essv5058600,essv5049288,essv5048661,essv5133257,essv5138606,essv5121362,essv5117440,essv5085244,essv5054352,essv5153379,essv5082319,essv5135561,essv5056170,essv5004934,essv5022346,essv5039947,essv5125108,essv5157065,essv5002792,essv5071762,essv5106721,essv5019192,essv5146286,essv5103923,essv5154692,essv5142002,essv5132398,essv5099557,essv5098833,essv5048540,essv5065149,essv5013323,essv5121897,essv5061560,essv5154332,essv5066231,essv5060946,essv5076459,essv5111221,essv5072849,essv5100180,essv5149865,essv5097383,essv5159816,essv5064859,essv5098814,essv5040450,essv5011863,essv5088341,essv5059194,essv5136992,essv5010270,essv5105714,essv5159877,essv5039859,essv5054571,essv5101193,essv5088245,essv5080860,essv5010867,essv5136875,essv5094010,essv5149320,essv5020023,essv5143966,essv5079549,essv5078508,essv5067210,essv5097484,essv5142206,essv5101548,essv5145252,essv5042647,essv5155151,essv5088436,essv5119841,essv5153750,essv5025333,essv5159781,essv5091989,essv5095722,essv5109227,essv5145504,essv5016695,essv5142241,essv5090648,essv5150802,essv5074558,essv5037314,essv5030700,essv5065981,essv5156093,essv5055087,essv5050297,essv5018672,essv5060260,essv5093868,essv5061000,essv5064239,essv5009232,essv5062928,essv5034923,essv5081424,essv5034644,essv5158778,essv5152860,essv5107820,essv5006368,essv5043562,essv5087614,essv5079929,essv5130013,essv5092155,essv5024948,essv5024956,essv5060703,essv5053074,essv5148207,essv5061241,essv5025402,essv5027426,essv5144509,essv5089779,essv5153129,essv5133471,essv5046965,essv5008659,essv5145337,essv5078499,essv5053037,essv5136500,essv5160136,essv5118804,essv5017619,essv5053621,essv5112094,essv5008311,essv5148361,essv5003070,essv5144266,essv5069957,essv5117838,essv5137010,essv5016207,essv5084202,essv5040427,essv5003631,essv5067477,essv5030187,essv5021525,essv5037773,essv5147987,essv5100524,essv5101025,essv5131597,essv5042319,essv5084362,essv5139899,essv5026287,essv5033661,essv5070628,essv5098482,essv5142315,essv5149907,essv5158141,essv5116281,essv5113145,essv5104140,essv5063629,essv5027897,essv5072404,essv5100833,essv5070103,essv5021475,essv5012577,essv5084021,essv5048530,essv5075792,essv5116879,essv5134279,essv5034051,essv5155939,essv5077759,essv5064121,essv5144281,essv5029086,essv5135225,essv5138530,essv5146513,essv5143764,essv5137249,essv5080995,essv5126050,essv5003655,essv5002005,essv5037151,essv5119482,essv5015973,essv5099921,essv5065974,essv5078276,essv5051680,essv5109310,essv5097118,essv5027044,essv5108944,essv5132871,essv5078401,essv5005784,essv5131319,essv5002408,essv5109861,essv5150881,essv5098993,essv5138392,essv5040181,essv5027985,essv5118367,essv5160300,essv5119644,essv5099037,essv5045850,essv5054251,essv5133854,essv5114775,essv5148486,essv5138981,essv5133609,essv5032367,essv5159395,essv5110982,essv5006610,essv5127266,essv5160473,essv5034596,essv5105148,essv5097397,essv5065936,essv5018626,essv5151291,essv5026943,essv5080181,essv5092939,essv5016601,essv5118143,essv5087360,essv5056567,essv5074857,essv5014826,essv5009535,essv5148736,essv5005075,essv5154244,essv5150496,essv5133454,essv5126346,essv5102581,essv5060088,essv5093618,essv5091056,essv5062878,essv5014466,essv5063908,essv5027298,essv5067853,essv5067032,essv5060657,essv5041545,essv5106946,essv5134069,essv5064905,essv5012419,essv5013221,essv5158049,essv5042870,essv5058449,essv5154643,essv5132600,essv5084629,essv5070930,essv5029955,essv5089782,essv5089366,essv5052365,essv5048638,essv5129021,essv5060817,essv5098662,essv5048012,essv5155868,essv5074445,essv5077298,essv5117371,essv5148106,essv5016511,essv5101028,essv5106552,essv5063759,essv5146324,essv5106624,essv5044195,essv5082385,essv5018801,essv5025383,essv5033741,essv5097297,essv5032317,essv5046410,essv5095138,essv5098939,essv5105121,essv5140677,essv5073322,essv5098650,essv5076881,essv5140876,essv5084369,essv5151394,essv5153390,essv5005276,essv5013784,essv5107385,essv5122624,essv5062963,essv5021195,essv5039051,essv5109057,essv5025961,essv5019824,essv5004869,essv5083367,essv5141167,essv5151459,essv5039796,essv5031090,essv5121481,essv5111135,essv5096180,essv5008581,essv5066537,essv5015451,essv5157103,essv5003225,essv5138997,essv5105516,essv5154189,essv5128480,essv5075286,essv5103853,essv5017187,essv5024975,essv5057021,essv5037990,essv5130689,essv5110997,essv5073162,essv5138783,essv5121921,essv5024097,essv5040379,essv5093886,essv5143474,essv5137243,essv5012722,essv5015174,essv5103027,essv5086151,essv5005070,essv5160536,essv5099598,essv5094998,essv5059066,essv5005080,essv5102470,essv5043622,essv5139728,essv5136058,essv5054451,essv5133717,essv5071744,essv5155840,essv5098845,essv5043238,essv5053582,essv5135471,essv5025651,essv5039291,essv5082969,essv5048813,essv5012904,essv5111236,essv5030694,essv5054404,essv5048581,essv5116790,essv5125189,essv5079579,essv5126421,essv5069603,essv5091541,essv5104452,essv5033494,essv5071416,essv5086070,essv5123037,essv5112496,essv5122531,essv5085593,essv5019807,essv5098118,essv5010334,essv5006846,essv5112185,essv5085095,essv5143230,essv5046064,essv5054653,essv5048690,essv5056757,essv5005824,essv5084419,essv5132853,essv5034659,essv5044293,essv5072528,essv5003991,essv5018305,essv5107910,essv5046401,essv5099687,essv5100178,essv5109143,essv5006118,essv5133705,essv5116981,essv5062892,essv5085511,essv5058893,essv5045902,essv5104363,essv5148124,essv5033854,essv5027837,essv5019622,essv5139097,essv5100140,essv5043560,essv5089626,essv5009691,essv5156415,essv5018266,essv5140720,essv5119442,essv5151410,essv5094966,essv5025397,essv5038227,essv5099444,essv5090361,essv5010997,essv5004263,essv5024785,essv5031315,essv5066290,essv5123336,essv5041428,essv5088038,essv5133030,essv5070882,essv5080260,essv5120064,essv5030674,essv5072384,essv5003739,essv5096816,essv5145970,essv5106837,essv5021528,essv5136268,essv5103915,essv5094753,essv5117429,essv5029493,essv5159448,essv5010627,essv5100784,essv5141582,essv5138369,essv5145019,essv5097805,essv5041636,essv5147178,essv5065269,essv5130192,essv5053318,essv5116248,essv5041436,essv5148354,essv5157725,essv5009918,essv5152150,essv5104195,essv5021490,essv5117057,essv5084001,essv5078960,essv5144316,essv5066016,essv5004122,essv5158983,essv5109509,essv5004654,essv5142379,essv5071463,essv5023150,essv5101013,essv5119316,essv5154729,essv5095559,essv5078888,essv5154261,essv5002527,essv5047246,essv5066568,essv5011961,essv5054731,essv5021095,essv5071197,essv5125545,essv5132632,essv5079283,essv5127505,essv5042427,essv5134654,essv5142363,essv5016988,essv5083951,essv5003336,essv5022633,essv5109141,essv5015056,essv5024494,essv5148744,essv5024548,essv5141881,essv5076328,essv5133558,essv5158196,essv5058563,essv5158831,essv5072586,essv5084682,essv5072865,essv5153936,essv5038113,essv5009934,essv5143166,essv5149586,essv5130940,essv5082102,essv5004430,essv5158254,essv5071566,essv5078006,essv5099043,essv5007399,essv5052456,essv5088043,essv5011988,essv5078167,essv5136258,essv5141453,essv5081511,essv5035831,essv5109291,essv5080551,essv5034680,essv5128014,essv5159797,essv5148706,essv5012345,essv5095871,essv5018584,essv5125655,essv5138964,essv5094508,essv5139068,essv5104636,essv5043141,essv5028394,essv5156706,essv5090812,essv5139686,essv5106003,essv5008351,essv5149307,essv5118613,essv5154240,essv5122086,essv5160748,essv5032518,essv5124628,essv5089786,essv5134768,essv5013726,essv5107308,essv5077904,essv5067136,essv5003200,essv5149815,essv5113246,essv5111500,essv5040467,essv5083696,essv5080205,essv5060917,essv5008263,essv5109487,essv5036695,essv5068260,essv5105903,essv5150005,essv5041312,essv5081652,essv5103640,essv5055794,essv5094118,essv5002315,essv5063904,essv5144117,essv5127577,essv5159098,essv5157667,essv5035490,essv5024388,essv5041461,essv5130529,essv5051241,essv5122167,essv5026463,essv5138536,essv5011067,essv5098810,essv5017094,essv5095736,essv5036546,essv5160627,essv5013128,essv5016966,essv5154796,essv5122821,essv5100984,essv5104196,essv5018673,essv5142292,essv5134588,essv5059658,essv5067918,essv5128947,essv5160621,essv5040240,essv5025259,essv5081662,essv5019963,essv5062142,essv5078662,essv5087693,essv5132268,essv5148000,essv5055659,essv5158347,essv5018714,essv5139110,essv5080376,essv5052700,essv5077916,essv5044750,essv5113107,essv5145881,essv5058462,essv5053326,essv5143561,essv5072306,essv5006495,essv5030183,essv5026982,essv5153741,essv5122823,essv5157998,essv5144341,essv5134507,essv5044427,essv5074155,essv5106919,essv5084219,essv5066940,essv5089174,essv5089081,essv5089054,essv5011723,essv5147391,essv5043399,essv5059431,essv5070503,essv5018460,essv5077366,essv5095945,essv5045970,essv5130993,essv5088446,essv5112997,essv5107761,essv5145602,essv5074531,essv5079652,essv5045252,essv5004433,essv5040734,essv5118451,essv5127386,essv5102051,essv5015352,essv5146767,essv5105319,essv5028032,essv5082812,essv5090082,essv5050946,essv5022624,essv5071534,essv5020733,essv5050834,essv5096414,essv5016017,essv5005428,essv5141254,essv5046021,essv5140041,essv5048098,essv5049997,essv5031962,essv5112551,essv5034831,essv5064765,essv5038613,essv5042442,essv5052779,essv5055479,essv5135562,essv5049477,essv5047848,essv5123814,essv5075996,essv5103869,essv5105525,essv5095857,essv5090380,essv5087726,essv5047228,essv5114113,essv5035163,essv5122294,essv5012969,essv5024203,essv5151153 M 1184 0 1027 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11919,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12239,NA12249,NA12264,NA12272,NA12275,NA12282,NA12283,NA12286,NA12287,NA12336,NA12340,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18487,NA18488,NA18489,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18510,NA18511,NA18515,NA18516,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18867,NA18868,NA18869,NA18870,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18917,NA18923,NA18925,NA18930,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19117,NA19119,NA19121,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19137,NA19139,NA19141,NA19143,NA19146,NA19147,NA19148,NA19150,NA19152,NA19153,NA19154,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19192,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19223,NA19224,NA19225,NA19226,NA19235,NA19237,NA19238,NA19247,NA19248,NA19249,NA19256,NA19258,NA19307,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19359,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19403,NA19404,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19439,NA19443,NA19444,NA19446,NA19448,NA19449,NA19455,NA19456,NA19462,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19685,NA19700,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19776,NA19777,NA19778,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20322,NA20333,NA20334,NA20336,NA20337,NA20342,NA20343,NA20344,NA20345,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20510,NA20512,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20756,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20783,NA20785,NA20786,NA20787,NA20790,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20849,NA20850,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20869,NA20870,NA20871,NA20873,NA20874,NA20875,NA20876,NA20877,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20895,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21117,NA21118,NA21119,NA21123,NA21125,NA21142,NA21143,NA21144,NA21297,NA21300,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21387,NA21389,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21578,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21632,NA21635,NA21636,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21825,NA21826 nsv10250 1 72538707 72585267 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14078,nssv14733,nssv13091,nssv13766,nssv12777,nssv15109,nssv17088,nssv13102,nssv15432,nssv14098,nssv17084,nssv12445,nssv14746,nssv14431,nssv15441,nssv20093,nssv14420,nssv14072,nssv15107,nssv14409,nssv17099,nssv18064,nssv14406,nssv12095 M 31 6 18 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 nsv819206 1 72538803 72584603 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418741 S 2 0 1 "" AK1 dgv51n67 1 72538815 72584689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823209,nsv823198,nsv823187 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821382 1 72538815 72584689 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420391 S 1 0 1 "" NA10851 esv4289 1 72538850 72584609 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26730 S 1 0 1 Single Asian sample YH "" YH esv24502 1 72538870 72584557 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15735 S 451 9 19 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18517,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19240,NA19257 nsv511699 1 72538880 72584444 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626339 S 1 0 1 "" 1 esv9190 1 72538911 72584432 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31631 S 1 0 1 "" SJK nsv498672 1 72538912 72584429 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585384 S 9 0 1 "" esv33765 1 72539082 72584229 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101535,essv101502,essv97459,essv96863,essv96793,essv96805,essv95163,essv95162,essv95155,essv95122,essv98333,essv98332,essv98320,essv94680,essv94652,essv94060,essv94053,essv93990,essv93973,essv101421,essv101418,essv101386,essv101311,essv96976,essv97063,essv97048,essv97044,essv97906,essv97814,essv95735,essv95578,essv95669,essv93164,essv93119,essv95308,essv95339,essv101620,essv101642,essv95805,essv95899,essv98989,essv98982,essv99057,essv99086,essv92860,essv92866,essv92926,essv92949,essv92699,essv93683,essv93637,essv93785,essv93716,essv96231,essv96205,essv98533,essv98631,essv100007,essv99978,essv99973,essv99921,essv93455,essv94914,essv94950,essv98050,essv98034,essv99317,essv99457,essv99564,essv98369,essv94191 M 51 4 25 "" 21603,21616,21659,21721,21772,21791,21802,21805,21817,21837,21841,21863,21872,21909,21911,21938,21939,21944,21972,22007,22085,22086,22128,22231,22259,22275,22335,22352,22394 nsv513990 1 72539216 72583480 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627019 S 1414 0 1 "" nsv437860 1 72540340 72581139 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471135,nssv471091,nssv471490,nssv471157,nssv471279,nssv471013,nssv471202,nssv471512,nssv471213,nssv471357,nssv471068,nssv471324,nssv471190,nssv471368,nssv471024,nssv471435,nssv471468,nssv471335,nssv471057,nssv471501,nssv471546,nssv471568,nssv471290,nssv471424,nssv471390,nssv471401,nssv471446,nssv471046,nssv471557,nssv471113,nssv471079,nssv471268,nssv471035,nssv471457,nssv471246,nssv471379,nssv471224,nssv471535,nssv471313,nssv471412,nssv471523,nssv471257,nssv471346,nssv471124,nssv471235,nssv471301,nssv471179,nssv471479,nssv471102,nssv471146,nssv471168 M 269 0 46 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA07000,NA07019,NA07022,NA07029,NA10830,NA10838,NA10839,NA10846,NA10851,NA10855,NA10857,NA10859,NA10860,NA10861,NA11832,NA11881,NA11993,NA11994,NA12003,NA12006,NA12043,NA12057,NA12145,NA12154,NA12707,NA12716,NA12740,NA12751,NA12864,NA12865,NA12873,NA12874,NA18500,NA18501,NA18506,NA18508,NA18515,NA18516,NA19143,NA19145,NA19160,NA19161,NA19200,NA19202 nsv442908 1 72541504 72583736 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509313 1 72576470 72584398 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619805 S 4 1 0 "" NA10860 esv2422432 1 72594444 72921239 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161297 S 181 0 1 "" ND03704 nsv519970 1 72609827 72610078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659734,nssv689963 M 2026 0 2 "" dgv241n71 1 72634435 72767986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871758,nsv870463,nsv871873 M 6533 0 4 "" MS14516,SP50663,SP54916,SP57266 nsv830215 1 72641637 72802375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447151 S 95 1 0 "" nsv528366 1 72732599 72733119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704953 S 2026 0 1 "" esv2566918 1 72753471 72754510 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367062 S 1 1 0 "" NA18507 nsv871074 1 72759817 72872643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580045 S 6533 0 1 "" IS35229 dgv3e55 1 72784767 72860767 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2750838,esv2750839 M 771 0 2 "" SPC_133,SPC_155 esv267522 1 72791128 72791213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517074 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv516582 1 72793831 72856809 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672126,nssv677061,nssv669332,nssv705429,nssv702027 M 2026 2 3 "" nsv160576 1 72795170 72795225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179154 M 24 "" nsv871371 1 72821273 72924692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548096 S 6533 0 1 "" MS17697 dgv242n71 1 72821273 73078181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871636,nsv871181 M 6533 0 2 "" MS10393,MS19587 nsv871282 1 72867977 72889079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500759 S 6533 1 0 "" SP50754 dgv57e1 1 72869688 72887793 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv965,essv7655 M 271 0 0 "" NA18632 esv28206 1 72895921 72896531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19416 S 451 0 1 "" NA19257 dgv58e1 1 72954200 73079758 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5463,esv108 M 271 0 0 "" NA18632 esv273079 1 72979878 72980004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580832,essv2579754 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv10261 1 73028775 73030984 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18424 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv2344712 1 73107879 73108306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745829 S 1 0 1 "" NA18507 esv271595 1 73211712 73211984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497297,essv2508328 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18561 nsv870774 1 73333399 73479037 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593951 S 6533 1 0 "" IS39642 nsv1387 1 73349592 73390247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9306,nssv10030,nssv6666,nssv1195,nssv5641,nssv4310 M 9 6 0 "" NA12156,NA12878,NA18517,NA18956,NA19129,NA19240 nsv509324 1 73353192 73356287 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619806 S 4 1 0 "" NA10860 nsv509335 1 73362535 73362535 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623784 S 4 1 0 "" NA18994 esv995897 1 73367487 73367752 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564125 S 3 1 0 "" HuRef nsv499463 1 73367568 73368149 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586157 S 9 1 0 "" esv1509362 1 73367621 73367621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355980 S 2 1 0 "" HuRef dgv59e1 1 73385687 73548272 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv370,essv14340 M 271 0 0 "" NA19194 dgv243n71 1 73406601 73563271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870929,nsv870622,nsv870886 M 6533 0 4 "" IS30764,IS31205,IS34489,MS15704 nsv871554 1 73420497 73655468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557587 S 6533 1 0 "" MS22764 nsv870536 1 73420497 73804142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556536 S 6533 0 1 "" MS22104 dgv244n71 1 73438432 73563271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871187,nsv871642 M 6533 9 0 "" MS14469,MS14755,MS16016,MS16188,MS17820,MS19301,MS22212,MS24101,MS24872 nsv10273 1 73452623 73484938 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13107,nssv14428 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA19132,NA19144 nsv441696 1 73454531 73483916 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513991 1 73454688 73479192 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627130 S 1414 1 0 "" nsv871745 1 73472012 73514607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499287 S 6533 0 1 "" SP50144 nsv461962 1 73514607 73682643 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538269 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00760 nsv506934 1 73525156 73531156 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623270,nssv617532,nssv619236,nssv620657 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2544992 1 73525573 73527261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183148 S 1 0 1 "" NA18507 esv2412229 1 73525996 73526713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932550 S 1 0 1 "" NA18507 esv4715 1 73526139 73526570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27156 S 1 0 1 Single Asian sample YH "" YH esv2532138 1 73526186 73526500 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234781 S 1 0 1 "" NA18507 esv1525281 1 73526195 73526510 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644641 S 2 0 1 "" HuRef esv9534 1 73526198 73526503 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31975 S 1 0 1 "" SJK esv1007056 1 73541371 73541721 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575847 S 3 0 1 "" HuRef esv1517216 1 73541371 73541722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721076 S 2 0 1 "" HuRef nsv506935 1 73628280 73634280 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623271 S 4 1 0 "" NA18994 esv268444 1 73683658 73683743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518953,essv2518933 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19239 esv273860 1 73683668 73683997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580326 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv1002539 1 73696249 73699314 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564783 S 3 0 1 "" HuRef nsv830226 1 73722727 73897891 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447162,nssv1447173 M 95 2 0 "" nsv830237 1 73948857 74125079 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447185 S 95 1 0 "" esv993926 1 74085020 74085270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580432 S 3 0 1 "" HuRef esv5920 1 74085024 74085270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28361 S 1 0 1 "" SJK nsv508018 1 74095744 74101744 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618496 S 4 0 1 "" CHM nsv522147 1 74111118 74756423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694920 S 2026 0 1 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K nsv1398 1 74125978 74170968 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7224 S 9 0 1 "" NA12156 nsv470717 1 74218172 74305175 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547735 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRIQ3 HGDP01216 nsv1411 1 74243973 74271151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7232 S 9 0 1 LRRIQ3 NA12156 esv272539 1 74244200 74244564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579028 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271857 1 74244212 74244550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546159,essv2542271,essv2536656,essv2576829,essv2544498,essv2547447,essv2529079,essv2553742,essv2554869,essv2557427,essv2557009,essv2550233,essv2527283,essv2543731,essv2556130,essv2562343,essv2529642,essv2560670,essv2530286,essv2568779,essv2545769,essv2574352,essv2537779,essv2525148,essv2558179 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA10851,NA11881,NA11919,NA11920,NA12154,NA12414,NA12717,NA12749,NA12763,NA12872,NA18499,NA18501,NA18511,NA18522,NA18870,NA18871,NA18909,NA19093,NA19116,NA19141,NA19147,NA19239,NA19240 dgv245n71 1 74257341 74484769 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871084,nsv871269,nsv871456,nsv871381 M 6533 4 0 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K SP51427,SP55835,SP56950,SP81265 nsv871527 1 74274065 74332590 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506405 S 6533 1 0 LRRIQ3 SP54299 esv272104 1 74297583 74297888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506107,essv2505977,essv2498997,essv2502121 M 157 4 0 Samples from several populations that are part of the HapMap project. LRRIQ3 NA18523,NA18861,NA19114,NA19257 dgv246n71 1 74350906 74481950 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871630,nsv871909 M 6533 2 0 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K SP50117,SP54299 dgv247n71 1 74426770 74577421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870554,nsv870486 M 6533 0 3 FPGT,FPGT-TNNI3K,LRRIQ3,TNNI3K IS38572,MS15715,MS16677 nsv870852 1 74458652 74476346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514390 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP56004 nsv523474 1 74471687 74566707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699235 S 2026 0 1 FPGT-TNNI3K,TNNI3K nsv870653 1 74491166 74566466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500362 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP50530 nsv871150 1 74507031 74594425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503674 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP52094 nsv871467 1 74510185 74540432 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515008,nssv1518200,nssv1500252,nssv1513795,nssv1503330 M 6533 1 4 FPGT-TNNI3K,TNNI3K SP50137,SP52039,SP55847,SP56108,SP57472 dgv248n71 1 74510185 74541855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871188,nsv870585 M 6533 0 7 FPGT-TNNI3K,TNNI3K SP50077,SP51145,SP51167,SP53687,SP56004,SP56172,SP57197 dgv249n71 1 74510185 74554867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871795,nsv870951 M 6533 0 3 FPGT-TNNI3K,TNNI3K SP50128,SP51037,SP56301 esv6294 1 74519498 74519592 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28735 S 1 1 0 FPGT-TNNI3K,TNNI3K SJK esv2350476 1 74527555 74528078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930344 S 1 0 1 FPGT-TNNI3K,TNNI3K NA18507 esv4202 1 74527661 74527957 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26643 S 1 0 1 Single Asian sample YH FPGT-TNNI3K,TNNI3K YH esv1000471 1 74527756 74527876 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579269 S 3 0 1 FPGT-TNNI3K,TNNI3K HuRef esv1327381 1 74527758 74527879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610332 S 2 0 1 FPGT-TNNI3K,TNNI3K HuRef nsv870654 1 74534786 74631312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584968 S 6533 0 1 FPGT-TNNI3K,TNNI3K IS37226 nsv461984 1 74577421 74647059 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538287 S 1557 0 1 FPGT-TNNI3K,TNNI3K NINDS_142 nsv820047 1 74607839 74608533 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419058 S 2 0 1 FPGT-TNNI3K,TNNI3K AK1 esv274525 1 74680982 74681402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580734 S 7 1 0 Samples from several populations that are part of the HapMap project. FPGT-TNNI3K,TNNI3K NA19238 nsv830248 1 74734979 74917046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447196 S 95 0 1 C1orf173,FPGT-TNNI3K,TNNI3K nsv525557 1 74750293 74764232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701696 S 2026 0 1 FPGT-TNNI3K,TNNI3K nsv871900 1 74756423 74786783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504675 S 6533 0 1 FPGT-TNNI3K,TNNI3K SP52708 esv2549117 1 74756678 74758253 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369116 S 1 0 1 FPGT-TNNI3K,TNNI3K NA18507 esv1932816 1 74756934 74758046 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821137 S 1 0 1 FPGT-TNNI3K,TNNI3K NA18507 nsv870824 1 74791978 74898169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557674 S 6533 0 1 C1orf173 MS22798 nsv871239 1 74830174 74898169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583722,nssv1599912 M 6533 0 2 C1orf173 IS36640,IS41808 nsv830259 1 74861765 75013650 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447207 S 95 1 0 C1orf173,CRYZ,TYW3 nsv461995 1 74905730 74939211 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538296 S 1557 1 0 C1orf173 1780862074_A esv1982102 1 74909304 74909696 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946556 S 1 0 1 C1orf173 NA18507 esv1344845 1 74909463 74909563 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226483 S 2 0 1 C1orf173 HuRef esv273989 1 74920552 74920738 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579000,essv2579653 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267541 1 74920614 74920944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571591,essv2521156,essv2525891,essv2556720,essv2568205,essv2577209,essv2548430,essv2521461,essv2535267,essv2554318,essv2544417,essv2547541,essv2558363,essv2577744,essv2559620,essv2528343,essv2520879,essv2544873,essv2523545,essv2541394,essv2540307,essv2564877,essv2534949,essv2561123,essv2539650,essv2549282,essv2519622,essv2560059,essv2521935,essv2565929,essv2531150,essv2532615,essv2567822,essv2528803,essv2567605,essv2569885,essv2563895,essv2553157,essv2535841,essv2559163,essv2578188,essv2572980,essv2533500,essv2555769,essv2566347,essv2530157,essv2573767,essv2527630,essv2557745,essv2556059,essv2522526,essv2573394,essv2543207,essv2572099,essv2525584,essv2526916,essv2536172,essv2538150,essv2549047,essv2533175 M 157 60 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA11840,NA11894,NA11918,NA11994,NA11995,NA12043,NA12045,NA12144,NA12249,NA12287,NA12414,NA12717,NA12750,NA12761,NA12776,NA12891,NA18498,NA18526,NA18537,NA18545,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18638,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18964,NA18965,NA18973,NA18980,NA19005 nsv871152 1 74924774 74970121 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564222 S 6533 1 0 CRYZ IS30181 nsv509346 1 74963212 74977417 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617995 S 4 1 0 CRYZ,TYW3 CHM nsv1422 1 74968224 74970880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4320 S 9 1 0 CRYZ NA12878 esv21668 1 74970760 74971244 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10394 S 451 1 0 CRYZ NA12828 nsv871743 1 75007670 75487142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564223 S 6533 1 0 LHX8,SLC44A5 IS30181 esv2422835 1 75047219 75049289 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162824 S 1 0 1 "" NA18507 esv274237 1 75074233 75074541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580579 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267912 1 75074244 75074568 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565665,essv2571809,essv2536497,essv2544123,essv2576521,essv2550588,essv2535487,essv2576282,essv2537604,essv2528391,essv2546689,essv2557504,essv2544810,essv2539685,essv2549467,essv2519704,essv2531200,essv2563780,essv2535749,essv2529863,essv2531504,essv2547786,essv2563544 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11829,NA11840,NA11920,NA11992,NA12154,NA12155,NA12249,NA12814,NA12878,NA12891,NA12892,NA18499,NA18526,NA18563,NA18564,NA18566,NA18573,NA18603,NA18608,NA18949,NA18961 esv269097 1 75160372 75160457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516563 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv1433 1 75178403 75211188 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6674 S 9 1 0 "" NA12156 nsv521974 1 75222180 75222557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694115 S 2026 0 1 "" nsv823220 1 75246063 75256391 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426482 S 31 0 1 "" NA18592 nsv508293 1 75264005 75314203 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620133 S 4 0 1 "" NA15510 esv270565 1 75329724 75330061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514573,essv2515709,essv2516087,essv2516875,essv2519082,essv2515190,essv2518849,essv2518248,essv2519492 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12815,NA12873,NA12892,NA19141,NA19238,NA19239,NA19240 esv272506 1 75329729 75330056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582830,essv2584338,essv2584640,essv2583741 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv1444 1 75396262 75429316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7244 S 9 1 0 LHX8 NA12156 esv2632878 1 75398857 75400331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375534 S 1 0 1 LHX8 NA18507 esv1169956 1 75518418 75518418 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150752 S 2 1 0 SLC44A5 HuRef esv1320217 1 75518557 75518557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871372 S 2 1 0 SLC44A5 HuRef nsv1455 1 75584965 75636770 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1206,nssv10042,nssv4340,nssv5652,nssv2191 M 9 0 5 SLC44A5 NA12878,NA18555,NA18956,NA19129,NA19240 nsv519329 1 75603026 76131179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655463,nssv693180 M 2026 2 0 ACADM,MSH4,RABGGTB,SLC44A5,SNORD45A,SNORD45B,SNORD45C nsv508304 1 75611360 75630014 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618973,nssv620134,nssv617481,nssv622767 M 4 0 4 SLC44A5 CHM,NA10860,NA15510,NA18994 nsv435643 1 75613443 75621564 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466051 S 2 0 1 SLC44A5 NA15510 esv1008813 1 75614443 75626687 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564309 S 3 0 1 SLC44A5 HuRef nsv498673 1 75615356 75621732 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585385 S 9 0 1 SLC44A5 esv1527298 1 75615913 75621318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655324 S 2 0 1 SLC44A5 HuRef dgv60e1 1 75759492 75960336 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15895,esv715 M 271 0 0 SLC44A5 NA19223 nsv830270 1 75774808 75805744 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447218,nssv1447229,nssv1447240,nssv1447251,nssv1447262 M 95 0 5 SLC44A5 esv2613586 1 75783906 75785524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347859 S 1 0 1 SLC44A5 NA18507 esv1954052 1 75784266 75784995 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812763 S 1 0 1 SLC44A5 NA18507 esv4835 1 75784304 75784934 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27276 S 1 0 1 Single Asian sample YH SLC44A5 YH esv1010081 1 75784453 75784782 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584778 S 3 0 1 SLC44A5 HuRef nsv159607 1 75784454 75784783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178185 M 24 SLC44A5 esv7181 1 75784468 75784791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29622 S 1 0 1 SLC44A5 SJK esv1700928 1 75784469 75784799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239670 S 2 0 1 SLC44A5 HuRef esv994396 1 75785040 75785348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563879 S 3 0 1 SLC44A5 HuRef esv269022 1 75833945 75834030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517461 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC44A5 NA11918 nsv10284 1 75852543 75855368 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16770 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv61e1 1 75855996 75929574 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7994,essv9523 M 271 0 0 "" NA19221,NA19223 nsv10295 1 75857994 75891880 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17100 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv870520 1 75860980 75979078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553651 S 6533 0 1 ACADM MS20237 dgv4e55 1 75866822 75894326 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34562,esv34738 M 771 0 2 "" NA19221,NA19223 nsv830281 1 75867880 76023641 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447273 S 95 0 1 ACADM nsv10306 1 75891880 75901232 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17430 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv10317 1 75906355 75907919 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16423 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv871572 1 75934477 75981076 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509529 S 6533 1 0 ACADM SP54816 nsv1466 1 76053545 76072066 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7248 S 9 0 1 MSH4 NA12156 nsv871671 1 76076803 76164234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507951 S 6533 0 1 ASB17,MSH4 SP54579 esv1918463 1 76105453 76105878 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533638 S 1 0 1 MSH4 NA18507 esv2575184 1 76122788 76126062 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307801 S 1 0 1 MSH4 NA18507 esv1540402 1 76123913 76123913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261417 S 2 1 0 MSH4 HuRef esv1749246 1 76123920 76123920 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181343 S 2 1 0 MSH4 HuRef esv1103396 1 76124151 76124839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618724 S 2 0 1 MSH4 HuRef esv2475692 1 76144261 76145402 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306904 S 1 1 0 MSH4 NA18507 esv2605515 1 76165074 76166137 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264746 S 1 1 0 ASB17 NA18507 esv269155 1 76165515 76165880 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507989,essv2502327,essv2510691,essv2496448,essv2493760,essv2495105,essv2503943,essv2511541 M 157 8 0 Samples from several populations that are part of the HapMap project. ASB17 NA07037,NA07346,NA12003,NA12004,NA18501,NA18510,NA18517,NA18964 nsv870968 1 76262822 76325063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552999 S 6533 1 0 ST6GALNAC3 MS19685 nsv1477 1 76288551 76306927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6683 S 9 0 1 "" NA12156 nsv521786 1 76298371 76308022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694554 S 2026 0 1 "" nsv871862 1 76298371 76370797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564112 S 6533 0 1 ST6GALNAC3 IS30171 nsv518927 1 76346202 76358860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696392 S 2026 0 1 ST6GALNAC3 nsv522056 1 76346202 76370797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694827 S 2026 0 1 ST6GALNAC3 nsv1488 1 76360210 76405223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7263 S 9 0 1 ST6GALNAC3 NA12156 esv28849 1 76383308 76386505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16389 S 451 0 1 ST6GALNAC3 NA18907 nsv870621 1 76392901 76769659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553000 S 6533 1 0 ST6GALNAC3 MS19685 nsv523526 1 76467944 76493752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699300 S 2026 0 1 ST6GALNAC3 nsv1499 1 76477569 76522276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5659 S 9 0 1 ST6GALNAC3 NA19129 esv2108639 1 76515638 76516075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643097 S 1 0 1 ST6GALNAC3 NA18507 nsv462006 1 76598867 76814993 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538305 S 1557 0 1 ST6GALNAC3 1780862125_A esv274979 1 76672052 76677940 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585566 S 1250 0 1 ST6GALNAC3 dgv52n67 1 76673246 76675916 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823242,nsv823231 M 31 0 2 ST6GALNAC3 NA18537,NA18947 nsv462017 1 76712744 76755033 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538312 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST6GALNAC3 HGDP00274 nsv462028 1 76720632 76749110 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538318 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST6GALNAC3 HGDP00307 nsv470718 1 76720632 76792185 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547738,nssv547737,nssv547736 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST6GALNAC3 HGDP00290,HGDP00315,HGDP00326 dgv20n27 1 76720632 76792574 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462073,nsv462050,nsv462039,nsv462062 M 1557 0 4 ST6GALNAC3 HGDP00286,HGDP00290,HGDP00315,HGDP00326 nsv526433 1 76803352 77040803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702736 S 2026 0 1 ST6GALNAC3 nsv508315 1 76812673 76907318 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618974 S 4 0 1 ST6GALNAC3 NA10860 esv2437446 1 76872444 76874045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315539 S 1 0 1 "" NA18507 esv2414305 1 76872769 76873437 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514077 S 1 0 1 "" NA18507 esv1003900 1 76872954 76873236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581003 S 3 0 1 "" HuRef esv1721845 1 76872963 76873246 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323927 S 2 0 1 "" HuRef nsv870909 1 76877361 76967752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553001 S 6533 1 0 "" MS19685 esv23112 1 76878796 76884893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18334 S 451 0 3 "" NA06985,NA18511,NA19108 esv2647937 1 76884027 76885579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330535 S 1 0 1 "" NA18507 esv2151586 1 76884574 76885065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741240 S 1 0 1 "" NA18507 esv1061888 1 76884728 76884850 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268777 S 2 0 1 "" HuRef nsv462084 1 76916769 76949777 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538338 S 1557 0 1 "" NINDS_130 nsv525417 1 76926907 76936481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701541 S 2026 0 1 "" nsv520575 1 76939403 76968620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681294,nssv686480,nssv683796,nssv672724,nssv679416,nssv690063 M 2026 6 0 "" nsv508019 1 76948085 76954085 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622291,nssv624213,nssv621470 M 4 0 3 "" NA10860,NA15510,NA18994 nsv521661 1 76969606 76986588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698278 S 2026 0 1 "" dgv62e1 1 77011006 77075473 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19070,esv1232 M 271 0 0 "" NA11830 nsv10328 1 77016419 77065885 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12757 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 esv271589 1 77037643 77037799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2527176,essv2561306,essv2530255,essv2551482 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18523,NA19141,NA19257 nsv159626 1 77070546 77077991 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178204 M 24 "" nsv1510 1 77077208 77111461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7272 S 9 1 0 ST6GALNAC5 NA12156 esv1425749 1 77078020 77078020 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209546 S 2 1 0 "" HuRef nsv160844 1 77078021 77078021 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179422 M 24 "" nsv820187 1 77104310 77107021 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419468 S 2 1 0 ST6GALNAC5 AK1 nsv871501 1 77155423 77216855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506300 S 6533 0 1 ST6GALNAC5 SP54189 nsv830292 1 77198159 77356895 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447284 S 95 0 1 PIGK,ST6GALNAC5 esv259552 1 77248884 77249418 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394021,essv2394329 M 6 0 0 Samples from several populations that are part of the HapMap project. ST6GALNAC5 NA19239,NA19240 esv259864 1 77248895 77249431 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398590,essv2395849,essv2396540,essv2397539,essv2400925,essv2394475,essv2396672,essv2398659,essv2396288,essv2399717,essv2394735,essv2397653,essv2399907,essv2397810,essv2396595,essv2400648,essv2397453,essv2396151,essv2394935,essv2398402,essv2399877,essv2399577,essv2395060,essv2400602,essv2400414,essv2395546,essv2398959,essv2399925,essv2399419,essv2394621,essv2398225,essv2400007,essv2395861,essv2398149,essv2397103,essv2394540,essv2398302,essv2399277,essv2395187,essv2399498,essv2398023,essv2398123,essv2397055,essv2400549 M 144 0 0 Samples from several populations that are part of the HapMap project. ST6GALNAC5 NA10847,NA11830,NA11919,NA11992,NA11993,NA12045,NA12414,NA12489,NA12716,NA12828,NA18498,NA18502,NA18504,NA18505,NA18507,NA18510,NA18520,NA18523,NA18545,NA18552,NA18561,NA18570,NA18571,NA18576,NA18592,NA18593,NA18603,NA18856,NA18858,NA18870,NA18909,NA18940,NA18945,NA18949,NA18951,NA18959,NA19093,NA19102,NA19108,NA19137,NA19147,NA19172,NA19239,NA19240 esv2500895 1 77350217 77351182 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317534 S 1 1 0 PIGK NA18507 esv272308 1 77350482 77350753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580371 S 7 1 0 Samples from several populations that are part of the HapMap project. PIGK NA12891 esv271361 1 77350483 77350825 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548613,essv2550312,essv2535407,essv2552235,essv2577760,essv2559759,essv2540159,essv2520777,essv2557442,essv2551708,essv2569506,essv2578632,essv2558728,essv2527048,essv2565200,essv2563670,essv2559217,essv2566975,essv2541913,essv2550910,essv2543696,essv2529705,essv2538664,essv2574680,essv2568745,essv2545169,essv2560183,essv2545722,essv2549085 M 157 29 0 Samples from several populations that are part of the HapMap project. PIGK NA07037,NA12045,NA12234,NA12249,NA12489,NA12761,NA12776,NA18489,NA18498,NA18499,NA18504,NA18508,NA18510,NA18516,NA18522,NA18558,NA18603,NA18638,NA18853,NA18856,NA18858,NA18870,NA19093,NA19108,NA19138,NA19147,NA19172,NA19190,NA19239 nsv520629 1 77357434 77468442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697526 S 2026 0 1 PIGK esv271271 1 77406883 77407180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548602,essv2550433,essv2534962,essv2577916,essv2559580,essv2540214,essv2557385,essv2557161,essv2552461,essv2551871,essv2532186,essv2562566,essv2569441,essv2578626,essv2537052,essv2539209,essv2527151,essv2561667,essv2565017,essv2559898,essv2563562,essv2559190,essv2566962,essv2541951,essv2551165,essv2543652,essv2556255,essv2528042,essv2529574,essv2575283,essv2538503,essv2574626,essv2572745,essv2568462,essv2545108,essv2560347,essv2548071,essv2571465,essv2545919,essv2548931 M 157 40 0 Samples from several populations that are part of the HapMap project. PIGK NA07037,NA12045,NA12234,NA12249,NA12761,NA12776,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18558,NA18570,NA18603,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA19093,NA19102,NA19108,NA19138,NA19143,NA19147,NA19172,NA19190,NA19210,NA19238,NA19239 esv273566 1 77406886 77407227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580123,essv2580441,essv2579980 M 7 3 0 Samples from several populations that are part of the HapMap project. PIGK NA12878,NA12891,NA12892 nsv525188 1 77428239 77468442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701266 S 2026 0 1 PIGK esv272326 1 77537552 77537644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581746,essv2582464,essv2584170 M 7 3 0 Samples from several populations that are part of the HapMap project. AK5 NA12878,NA12891,NA19238 esv270640 1 77537552 77537841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576076,essv2540889,essv2521108,essv2542485,essv2545263,essv2523134,essv2531681,essv2577233,essv2570413,essv2576863,essv2544370,essv2520364,essv2564325,essv2561920,essv2537187,essv2528252,essv2558855,essv2539094,essv2540546,essv2539896,essv2528654,essv2566705,essv2528092,essv2573892,essv2534297,essv2577149,essv2568736,essv2571366,essv2535998 M 157 29 0 Samples from several populations that are part of the HapMap project. AK5 NA06986,NA11830,NA11831,NA11894,NA11919,NA12003,NA12004,NA12006,NA12043,NA12044,NA12154,NA12414,NA12716,NA12751,NA12874,NA12878,NA12891,NA18516,NA18519,NA18552,NA18563,NA18579,NA18853,NA18907,NA18951,NA18959,NA18970,NA19147,NA19238 nsv517088 1 77547001 77551196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681619,nssv653765,nssv671217,nssv656535 M 2026 0 4 AK5 nsv818234 1 77547001 77551196 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418348 S 112 0 1 AK5 NA19141 nsv470719 1 77547001 78041795 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547739 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AK5,FAM73A,USP33,ZZZ3 HGDP00468 esv22538 1 77547332 77554042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11859 S 451 0 1 AK5 NA18523 nsv441697 1 77547460 77552420 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 AK5 essv9537 1 77547602 77552424 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AK5 NA18861 dgv63e1 1 77547602 77561050 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9513,esv1229 M 271 0 0 AK5 NA18521 nsv1522 1 77579422 77613896 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2983 S 9 1 0 AK5 NA18555 nsv823254 1 77604106 77605088 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425506 S 31 0 1 AK5 AK4 esv9520 1 77605437 77606256 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31961 S 1 0 0 AK5 SJK nsv871605 1 77662093 77690935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519636 S 6533 0 1 AK5 SP50101 nsv521371 1 77672228 77685557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697980 S 2026 0 1 AK5 nsv462095 1 77676199 77724048 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538348 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AK5 HGDP01164 esv1440178 1 77682551 77682615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855713 S 2 0 1 AK5 HuRef esv1179842 1 77713671 77713747 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775628 S 2 0 1 AK5 HuRef nsv871143 1 77728165 77804582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535998 S 6533 1 0 AK5,ZZZ3 MS12577 nsv1533 1 77763092 77808867 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6692 S 9 0 1 AK5,ZZZ3 NA12156 nsv870709 1 77789105 77970910 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532633 S 6533 0 1 AK5,USP33,ZZZ3 MS10802 esv268641 1 77794291 77794376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516955 S 157 1 0 Samples from several populations that are part of the HapMap project. AK5 NA11931 nsv830303 1 77863412 78081353 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447296 S 95 0 1 FAM73A,USP33,ZZZ3 nsv508326 1 77956967 78006835 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618975 S 4 0 1 USP33 NA10860 esv2329300 1 78126023 78126440 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613924 S 1 0 1 "" NA18507 nsv518855 1 78189257 78228943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694281 S 2026 0 1 FUBP1 nsv870608 1 78293410 78366874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532874 S 6533 1 0 GIPC2 MS10897 esv1010689 1 78299892 78300007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575542 S 3 0 1 GIPC2 HuRef esv1368582 1 78299900 78300016 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047242 S 2 0 1 GIPC2 HuRef nsv871835 1 78301391 79273717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512805 S 6533 1 0 ELTD1,GIPC2,IFI44,IFI44L,MGC27382,PTGFR SP55630 nsv159417 1 78351625 78351803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177995 M 24 GIPC2 esv271958 1 78379624 78379951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526048,essv2536437,essv2522657,essv2570467,essv2548489,essv2534981,essv2554136,essv2558425,essv2553744,essv2564190,essv2530725,essv2537319,essv2528637,essv2551838,essv2561398,essv2544759,essv2523851,essv2552969,essv2541404,essv2542753,essv2540667,essv2565110,essv2534839,essv2561133,essv2539526,essv2549202,essv2519857,essv2560129,essv2521955,essv2566023,essv2531038,essv2532520,essv2568058,essv2541518,essv2570217,essv2563701,essv2553176,essv2572270,essv2559108,essv2543435,essv2562384,essv2534067,essv2578230,essv2573082,essv2555390,essv2533771,essv2555496,essv2567062,essv2566342,essv2529999,essv2574028,essv2527563,essv2534443,essv2531364,essv2573475,essv2543218,essv2573286,essv2572063,essv2525687,essv2575429,essv2538742,essv2560248,essv2545765,essv2574229,essv2551551,essv2548981,essv2554507,essv2525027 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07357,NA11918,NA11920,NA11931,NA12044,NA12045,NA12249,NA12287,NA12750,NA12763,NA12828,NA12873,NA12878,NA12891,NA18504,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18870,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18969,NA18973,NA18980,NA19099,NA19108,NA19190,NA19239,NA19240,NA19257 esv273847 1 78379631 78379956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581860,essv2582369,essv2584610,essv2583287 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv520237 1 78411832 78432711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662070,nssv673864 M 2026 0 2 "" nsv1544 1 78421079 78433560 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4351 S 9 0 1 "" NA12878 esv28303 1 78421767 78424207 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17203 S 451 0 8 "" NA12828,NA12878,NA18502,NA18508,NA18511,NA18858,NA19099,NA19114 nsv819341 1 78421855 78432177 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418594 S 2 0 1 "" AK1 nsv823265 1 78422267 78424372 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425508 S 31 0 1 "" AK4 nsv513992 1 78422464 78423912 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627241 S 1414 0 1 "" nsv1555 1 78567553 78578876 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9519 S 9 1 0 MGC27382 NA18507 esv23037 1 78606682 78608443 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9802 S 451 0 2 MGC27382 NA18916,NA19225 nsv870807 1 78639935 78805186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563306 S 6533 0 1 PTGFR MS25963 esv1005505 1 78714819 78714819 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583692 S 3 1 0 "" HuRef esv1654262 1 78714820 78714820 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961681 S 2 1 0 "" HuRef nsv1566 1 78725133 78733416 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5669 S 9 1 0 PTGFR NA19129 nsv871260 1 78730447 78749158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519763 S 6533 1 0 PTGFR SP50544 nsv871959 1 78764767 78772384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519764 S 6533 1 0 PTGFR SP50544 nsv870919 1 78766429 78783258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523830 S 6533 0 1 PTGFR SP54223 esv2376136 1 78770538 78770905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984931 S 1 0 1 PTGFR NA18507 esv1614956 1 78770744 78770806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251489 S 2 0 1 PTGFR HuRef nsv830315 1 78781031 78973179 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447340,nssv1447307,nssv1447318,nssv1447329 M 95 4 0 IFI44,IFI44L nsv1577 1 78785899 78831163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5680 S 9 0 1 "" NA19129 nsv871140 1 78868169 78927722 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500317 S 6533 1 0 IFI44,IFI44L SP50107 esv274113 1 78881399 78881560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579010 S 7 1 0 Samples from several populations that are part of the HapMap project. IFI44L NA19239 esv267842 1 78881402 78881549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546160,essv2526033,essv2523326,essv2531718,essv2554218,essv2559722,essv2520260,essv2537199,essv2528475,essv2546984,essv2523717,essv2553017,essv2524399,essv2565085,essv2534834,essv2519653,essv2567453,essv2534455,essv2531509,essv2525806,essv2549032 M 157 21 0 Samples from several populations that are part of the HapMap project. IFI44L NA07037,NA11881,NA11918,NA12004,NA12006,NA12287,NA12776,NA12815,NA12878,NA12891,NA12892,NA18537,NA18542,NA18555,NA18558,NA18561,NA18566,NA18582,NA18959,NA18961,NA18980 nsv871588 1 78937489 78987077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533330 S 6533 0 1 "" MS11105 nsv526221 1 78970212 79259668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702486 S 2026 0 1 ELTD1 nsv871700 1 79097804 79122952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517955 S 6533 0 1 "" SP57418 esv271648 1 79103761 79103846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519317,essv2517433,essv2514327,essv2517602,essv2513592 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA11918,NA12874,NA12878 esv274013 1 79103761 79103846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581481 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv250n71 1 79126243 79244547 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871089,nsv871564 M 6533 0 2 ELTD1 IS36656,IS37103 esv21924 1 79166231 79170324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18381,esv10447 M 451 0 3 ELTD1 NA18907,NA18909,NA19108 esv2551231 1 79173924 79175231 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330250 S 1 0 1 ELTD1 NA18507 esv2156352 1 79173925 79174619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757073 S 1 0 1 ELTD1 NA18507 esv4207 1 79174011 79174513 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26648 S 1 0 1 Single Asian sample YH ELTD1 YH esv1001130 1 79174098 79174419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568205 S 3 0 1 ELTD1 HuRef esv9047 1 79174117 79174416 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31488 S 1 0 1 ELTD1 SJK dgv251n71 1 79175923 79293142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871276,nsv871525 M 6533 0 3 ELTD1 IS34962,IS35771,MS10802 nsv871613 1 79180568 79244547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597593,nssv1569024,nssv1541082 M 6533 0 3 ELTD1 IS31401,IS41068,MS15199 nsv528328 1 79184352 79184996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704910 S 2026 0 1 ELTD1 nsv470720 1 79184352 79263794 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547740 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ELTD1 HGDP01061 dgv252n71 1 79193079 79273717 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871645,nsv870769 M 6533 0 2 ELTD1 IS41867,MS19808 nsv462139 1 79244547 79292015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538380 S 1557 0 1 ELTD1 1782681195_A nsv522014 1 79256875 79257304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694783 S 2026 0 1 "" esv34074 1 79286032 79358240 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2451306 1 79327526 79328862 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312727 S 1 0 1 "" NA18507 nsv830326 1 79345967 79508255 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447351 S 95 1 0 "" esv2593633 1 79354276 79355213 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346379 S 1 1 0 "" NA18507 esv271964 1 79354646 79354973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575875,essv2540916,essv2571829,essv2546319,essv2521390,essv2525842,essv2542348,essv2536716,essv2556735,essv2568090,essv2545410,essv2523205,essv2531897,essv2577405,essv2570496,essv2548547,essv2521809,essv2576670,essv2550605,essv2525436,essv2550263,essv2535415,essv2544316,essv2552297,essv2520600,essv2547490,essv2558509,essv2564636,essv2577796,essv2553664,essv2559552,essv2576440,essv2519970,essv2564207,essv2554960,essv2530861,essv2537530,essv2528476,essv2546823,essv2540108,essv2520872,essv2557033,essv2551868,essv2532043,essv2562715,essv2569208,essv2578620,essv2550198,essv2558942,essv2536811,essv2527378,essv2561714,essv2544934,essv2562838,essv2523489,essv2553091,essv2541357,essv2538189,essv2542771,essv2540287,essv2524482,essv2565193,essv2534904,essv2560997,essv2539586,essv2549157,essv2519564,essv2559989,essv2522055,essv2565992,essv2532898,essv2567830,essv2528823,essv2567322,essv2541629,essv2570155,essv2563930,essv2553464,essv2535855,essv2572436,essv2559067,essv2566966,essv2541926,essv2569144,essv2543604,essv2556211,essv2527761,essv2562486,essv2539442,essv2534024,essv2578299,essv2573099,essv2555364,essv2533483,essv2566621,essv2530028,essv2573780,essv2527595,essv2534184,essv2522326,essv2531522,essv2573361,essv2543330,essv2577015,essv2525743,essv2529761,essv2575708,essv2575235,essv2538559,essv2526545,essv2560715,essv2560905,essv2574540,essv2572658,essv2568801,essv2545173,essv2571370,essv2546041,essv2574218,essv2551563,essv2536352,essv2538106,essv2548924,essv2554632,essv2525068,essv2563207,essv2557857 M 157 127 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19143,NA19147,NA19172,NA19238,NA19239,NA19240,NA19257 esv272221 1 79354647 79354974 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581852,essv2582628,essv2583232,essv2584026,essv2584842,essv2583444 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1600149 1 79354670 79354670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769417 S 2 1 0 "" HuRef nsv871182 1 79387577 79595323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552559,nssv1599765,nssv1599921 M 6533 0 3 "" IS41786,IS41809,MS19489 nsv818245 1 79405655 79409914 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418129,nssv1418128 M 112 0 2 "" NA19143,NA19144 esv259644 1 79422633 79422960 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394207,essv2393953,essv2393791,essv2393636,essv2394059,essv2394323 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv260023 1 79422640 79422970 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396072,essv2396726,essv2400306,essv2398501,essv2401116,essv2398893,essv2395793,essv2399405,essv2396662,essv2398649,essv2400764,essv2399707,essv2397309,essv2401085,essv2396951,essv2395658,essv2397636,essv2399252,essv2396619,essv2400687,essv2396313,essv2395490,essv2397406,essv2395057,essv2397866,essv2396863,essv2398816,essv2400427,essv2400141,essv2399144,essv2396849,essv2394668,essv2395309,essv2394884,essv2395880,essv2397496,essv2400826,essv2397726,essv2399643,essv2394594,essv2398727,essv2398285,essv2399808,essv2396385,essv2397241,essv2395973,essv2397062,essv2400514 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11831,NA11881,NA11894,NA11931,NA11995,NA12004,NA12287,NA12414,NA12489,NA12717,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18508,NA18526,NA18542,NA18558,NA18563,NA18566,NA18571,NA18577,NA18579,NA18582,NA18592,NA18608,NA18609,NA18638,NA18870,NA18916,NA18942,NA18945,NA18947,NA18952,NA18956,NA18964,NA18965,NA19005,NA19093,NA19129,NA19138,NA19225,NA19238,NA19239,NA19240 nsv870657 1 79473808 79663362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556240 S 6533 0 1 "" MS21868 nsv870962 1 79527773 79607654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598224,nssv1594157,nssv1567378 M 6533 0 3 "" IS31074,IS39718,IS41043 esv2586442 1 79554114 79556795 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352773 S 1 0 1 "" NA18507 nsv1588 1 79558188 79592305 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1215 S 9 1 0 "" NA19240 nsv830337 1 79564467 79685829 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447362 S 95 1 0 "" nsv871649 1 79580035 79696763 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598093 S 6533 1 0 "" IS41340 dgv21n27 1 79607654 79649623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462150,nsv462161,nsv462173 M 1557 0 3 "" HGDP00461,HGDP00472,HGDP00479 nsv470721 1 79607654 79649623 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547744,nssv547747,nssv547746,nssv547742,nssv547743,nssv547741 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00448,HGDP00453,HGDP00461,HGDP00472,HGDP00479,HGDP01086 nsv1599 1 79694791 79722938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4361 S 9 1 0 "" NA12878 esv2460745 1 79744283 79745677 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233490 S 1 0 1 "" NA18507 nsv871566 1 79767219 81171027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520039 S 6533 0 1 "" SP50660 nsv508337 1 79800567 79805048 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622768 S 4 0 1 "" NA18994 esv2114150 1 79809484 79809888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604602 S 1 0 1 "" NA18507 esv2750840 1 79841670 81616474 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980803,essv6989199,essv6980804,essv6987852,essv6987853 M 771 0 1 "" BEC_175 nsv159019 1 79866149 79873901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177597 M 24 "" esv2009346 1 79886581 79887277 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862067 S 1 0 1 "" NA18507 esv3566 1 79886680 79887133 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26007 S 1 0 1 Single Asian sample YH "" YH esv23928 1 79992526 79995969 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11006,esv10473,esv15070 M 451 22 4 "" NA07037,NA11894,NA11993,NA12004,NA12414,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821482 1 79993560 79995969 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420403 S 1 0 1 "" NA10851 esv2520659 1 79993633 79996331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208274 S 1 0 1 "" NA18507 nsv511158 1 79993655 79998425 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626088 S 1 0 1 "" 1 nsv511700 1 79994274 79995881 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626340 S 1 0 1 "" 1 esv1505227 1 79994370 79995618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234788 S 2 0 1 "" HuRef esv1005433 1 79994370 79996012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563497 S 3 0 1 "" HuRef nsv160393 1 79994371 79995618 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178971 M 24 "" dgv253n71 1 79999498 80049860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870518,nsv871792 M 6533 0 3 "" MS15779,MS15871,MS19858 nsv823276 1 80017603 80018243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439466 S 31 1 0 "" NA18537 esv259463 1 80043637 80043903 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394215,essv2393686,essv2394002,essv2394334 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv999819 1 80043743 80043743 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567514 S 3 1 0 "" HuRef esv1201403 1 80043744 80043744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139564 S 2 1 0 "" HuRef nsv160493 1 80043745 80043745 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179071 M 24 "" nsv823287 1 80061326 80061850 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431817 S 31 1 0 "" AK20 nsv462184 1 80070538 80504156 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538407 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01308 nsv823298 1 80071288 80072673 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437948 S 31 1 0 "" NA18951 esv269984 1 80071673 80071963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576046,essv2540965,essv2571789,essv2536603,essv2570831,essv2556616,essv2545441,essv2523440,essv2570590,essv2548473,essv2550396,essv2554204,essv2552066,essv2520613,essv2547462,essv2564485,essv2578036,essv2559441,essv2565504,essv2537415,essv2528210,essv2547064,essv2556895,essv2552463,essv2536895,essv2532718,essv2541542,essv2530056,essv2573628,essv2575121,essv2526653,essv2574660,essv2536356,essv2537930,essv2533145,essv2554619,essv2557945 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA10851,NA11830,NA11831,NA11840,NA11920,NA11993,NA11994,NA12003,NA12004,NA12044,NA12045,NA12234,NA12287,NA12489,NA12716,NA12717,NA12751,NA12761,NA12776,NA12812,NA12878,NA12891,NA12892,NA18501,NA18502,NA18517,NA18576,NA18592,NA18949,NA18964,NA19102,NA19114,NA19138 esv272639 1 80071673 80071963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582149,essv2582462,essv2582970 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1217028 1 80071684 80071684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029994 S 2 1 0 "" HuRef esv34144 1 80093606 80345333 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv871076 1 80192995 80329403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546042 S 6533 0 1 "" MS17114 dgv254n71 1 80228322 80329403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871474,nsv871739 M 6533 0 3 "" MS10802,MS13426,MS20872 dgv255n71 1 80250468 80314666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871192,nsv871158 M 6533 0 2 "" IS39011,MS17611 dgv256n71 1 80250468 80335888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871251,nsv871577,nsv871935,nsv871661 M 6533 0 14 "" IS31054,IS31067,IS31123,IS31205,IS31225,IS31259,IS31306,IS31728,IS31729,IS32607,IS35229,IS38263,IS39119,IS41068 nsv462195 1 80256562 80329403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538416 S 1557 0 1 "" 1787431198_A dgv257n71 1 80258935 80435486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871009,nsv870523,nsv871492,nsv871201 M 6533 0 4 "" IS31765,IS39243,IS40067,MS20346 nsv871759 1 80287294 80329403 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569772,nssv1542168,nssv1569183,nssv1569632,nssv1567415,nssv1594158,nssv1566879,nssv1584388,nssv1532135,nssv1551262,nssv1566327,nssv1532028,nssv1597053,nssv1565636 M 6533 1 13 "" IS30490,IS30667,IS30969,IS31081,IS31543,IS31652,IS31706,IS36981,IS39718,IS40728,MS10699,MS10727,MS15704,MS18847 dgv258n71 1 80287294 80335888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871108,nsv871409 M 6533 0 4 "" IS31401,IS31758,IS35743,SP50120 nsv870712 1 80289812 80320023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500046 S 6533 0 1 "" SP50144 nsv462206 1 80305026 80329403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538426 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00241 nsv462217 1 80309386 80456194 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538434 S 1557 0 1 "" 1780854449_A nsv462261 1 80310777 80361254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538471 S 1557 0 1 "" 1780862014_A nsv520795 1 80314666 80329403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697615 S 2026 0 1 "" esv1005034 1 80317844 80317844 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570928 S 3 1 0 "" HuRef esv1023572 1 80317845 80317845 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824088 S 2 1 0 "" HuRef nsv519190 1 80329403 80335888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696673 S 2026 0 1 "" nsv528189 1 80385803 80403819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704746 S 2026 0 1 "" nsv1610 1 80389617 80421976 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10061 S 9 1 0 "" NA18956 nsv871859 1 80524871 80680736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562466 S 6533 0 1 "" MS25617 esv2529101 1 80545755 80546785 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219877 S 1 1 0 "" NA18507 esv26646 1 80565011 80569483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13969,esv10608 M 451 0 2 "" NA12044,NA19240 esv5636 1 80567411 80567699 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28077 S 1 0 0 "" SJK esv1382758 1 80567538 80567614 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206808 S 2 0 1 "" HuRef nsv871451 1 80587322 80680736 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547205 S 6533 1 0 "" MS17232 nsv462272 1 80611866 80682005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538482 S 1557 0 1 "" 1780862001_A nsv871650 1 80690114 80767681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579227 S 6533 0 1 "" IS35073 esv2285809 1 80726437 80726845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978871 S 1 0 1 "" NA18507 nsv871193 1 80743566 80829534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552814 S 6533 0 1 "" MS19634 dgv259n71 1 80769558 80859763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871382,nsv871092,nsv871285 M 6533 0 3 "" IS33129,IS33507,IS34962 nsv871748 1 80769558 81102353 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566840 S 6533 0 1 "" IS30953 esv269025 1 80776759 80776881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496472,essv2493591,essv2509250,essv2501931,essv2497980 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18517,NA18909,NA19239,NA19240 esv272409 1 80776778 80776971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584784,essv2583348 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269465 1 80780609 80780896 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496582,essv2507339,essv2510393 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18912,NA19172 nsv870680 1 80801767 80853129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517710 S 6533 0 1 "" SP57367 esv2445324 1 80891453 80892960 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174863 S 1 0 1 "" NA18507 nsv524609 1 80891475 80906204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700570 S 2026 0 1 "" nsv1621 1 80900479 80946481 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6701 S 9 0 1 "" NA12156 dgv260n71 1 80934469 81054761 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871060,nsv871713 M 6533 2 0 "" IS36320,IS41824 nsv525106 1 80944529 80950113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701166 S 2026 0 1 "" nsv1633 1 80945264 80978295 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5681 S 9 1 0 "" NA19129 esv2645795 1 80966095 80967710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375379 S 1 0 1 "" NA18507 esv2349812 1 80966739 80967454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528381 S 1 0 1 "" NA18507 esv5102 1 80966882 80967355 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27543 S 1 0 1 Single Asian sample YH "" YH esv6371 1 80966942 80967257 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28812 S 1 0 1 "" SJK nsv871780 1 80999733 81060413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572289 S 6533 1 0 "" IS32918 nsv870943 1 81008024 81149896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591627 S 6533 0 1 "" IS39011 nsv517432 1 81038591 81052898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687378,nssv672040,nssv660578,nssv665658,nssv664969,nssv652005,nssv689281,nssv664519,nssv670848,nssv683577 M 2026 0 10 "" dgv261n71 1 81038591 81137217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870640,nsv870458 M 6533 0 2 "" IS33763,IS41113 nsv871836 1 81048766 81114482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557782 S 6533 0 1 "" MS22863 esv274092 1 81123956 81124269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580974,essv2579305 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv267414 1 81124100 81124253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541034,essv2546294,essv2521209,essv2536498,essv2523389,essv2548396,essv2525228,essv2550435,essv2535210,essv2552279,essv2520333,essv2558426,essv2564606,essv2576284,essv2557157,essv2569573,essv2536876,essv2538906,essv2561725,essv2544889,essv2523539,essv2552993,essv2561087,essv2560141,essv2522231,essv2568038,essv2528972,essv2541462,essv2563691,essv2535812,essv2543673,essv2527924,essv2573261,essv2567136,essv2566458,essv2529910,essv2573931,essv2534207,essv2522576,essv2573673,essv2543229,essv2577100,essv2571877,essv2526481,essv2572666,essv2571272,essv2536284,essv2537844,essv2548803,essv2548023 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07347,NA11831,NA11881,NA11894,NA11920,NA12004,NA12045,NA12156,NA12234,NA12249,NA12489,NA12716,NA12750,NA12751,NA12814,NA18501,NA18508,NA18517,NA18519,NA18523,NA18526,NA18537,NA18542,NA18562,NA18570,NA18571,NA18577,NA18579,NA18592,NA18603,NA18608,NA18870,NA18907,NA18942,NA18947,NA18948,NA18949,NA18951,NA18959,NA18960,NA18964,NA18965,NA18970,NA18973,NA19114,NA19143,NA19238 nsv160614 1 81124117 81124117 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179192 M 24 "" nsv1644 1 81154388 81208313 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4371,nssv10068,nssv1223,nssv6710 M 9 0 4 "" NA12156,NA12878,NA18956,NA19240 nsv524462 1 81158977 81159513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700396 S 2026 0 1 "" nsv511150 1 81173702 81176348 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625999 S 1 0 1 "" 1 nsv511701 1 81175416 81183746 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626341 S 1 0 1 "" 1 esv29461 1 81175548 81190695 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15779,esv19464 M 451 7 0 "" NA07045,NA11931,NA11993,NA12749,NA18517,NA18916,NA19129 nsv436529 1 81175575 81183857 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466062 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv508348 1 81176080 81220990 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618977,nssv617489 M 4 0 2 "" CHM,NA10860 nsv510913 1 81176080 81220990 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621651 S 4 0 0 "" NA15510 esv2486529 1 81176645 81184206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195261 S 1 0 1 "" NA18507 esv1009096 1 81177219 81183720 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564372 S 3 0 1 "" HuRef esv2130910 1 81177231 81183739 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881939 S 1 0 1 "" NA18507 esv3369 1 81177315 81183618 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25810 S 1 0 1 Single Asian sample YH "" YH nsv506936 1 81180757 81186757 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619237 S 4 1 0 "" NA10860 nsv871865 1 81183613 81703366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510571 S 6533 1 0 "" SP54967 nsv823309 1 81194858 81197013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431818 S 31 0 1 "" AK20 nsv830348 1 81222392 81368986 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447373 S 95 0 1 "" esv2439392 1 81296115 81297104 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359938 S 1 1 0 "" NA18507 esv267558 1 81296685 81297021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571592,essv2546557,essv2542389,essv2543978,essv2556641,essv2545326,essv2523358,essv2577235,essv2570540,essv2576693,essv2520564,essv2547266,essv2577706,essv2565409,essv2576372,essv2520135,essv2554841,essv2530756,essv2561861,essv2537561,essv2528613,essv2546993,essv2562553,essv2578676,essv2550053,essv2539125,essv2565140,essv2565948,essv2563903,essv2556300,essv2527757,essv2533465,essv2575484,essv2524189,essv2574858,essv2568735,essv2545220,essv2535987,essv2548649,essv2554516,essv2547904,essv2525039,essv2563465,essv2558195 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11840,NA11881,NA11919,NA11992,NA11994,NA12003,NA12004,NA12043,NA12044,NA12154,NA12716,NA12717,NA12761,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18507,NA18510,NA18511,NA18519,NA18558,NA18572,NA18603,NA18871,NA18907,NA18944,NA19099,NA19129,NA19138,NA19147,NA19172 esv274652 1 81296685 81297021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582015,essv2582595,essv2582859 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv1655 1 81303675 81348642 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7298 S 9 0 1 "" NA12156 nsv871418 1 81382452 81450354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551141 S 6533 0 1 "" MS18799 esv2610232 1 81432221 81434137 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314723 S 1 0 0 "" NA18507 esv8074 1 81433113 81433960 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30515 S 1 0 0 "" SJK esv2474555 1 81459728 81461345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212380 S 1 0 1 "" NA18507 esv1916717 1 81460188 81460900 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539958 S 1 0 1 "" NA18507 esv3207 1 81460296 81460876 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25648 S 1 0 1 Single Asian sample YH "" YH nsv159917 1 81460373 81460701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178495 M 24 "" esv7669 1 81460387 81460700 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30110 S 1 0 1 "" SJK nsv518182 1 81589073 81597713 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695603 S 2026 0 1 "" nsv1666 1 81616518 81622954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7304 S 9 1 0 "" NA12156 esv268600 1 81628352 81628437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514627,essv2516822,essv2519226,essv2514100,essv2516309,essv2518192,essv2517693,essv2517272,essv2518421,essv2519405 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11881,NA11894,NA12043,NA12814,NA12872,NA12878,NA18970,NA19240 esv273686 1 81628352 81628437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581459,essv2581048 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv470722 1 81643352 81695539 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547748 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01061 nsv823320 1 81655191 81655672 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423129 S 31 1 0 "" NA18999 dgv64e1 1 81660005 81669334 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18882,esv888,essv21875 M 271 0 0 "" NA06991,NA07029 nsv462361 1 81673593 81720518 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538546 S 1557 0 1 "" 1788485381_A nsv870565 1 81673593 81855697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590249 S 6533 0 1 "" IS38477 esv2464487 1 81751727 81753147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348972 S 1 0 1 "" NA18507 esv2029393 1 81752102 81752658 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978804 S 1 0 1 "" NA18507 esv4235 1 81752186 81752704 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26676 S 1 0 1 Single Asian sample YH "" YH esv2557027 1 81752321 81752441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346685 S 1 0 1 "" NA18507 nsv830359 1 81805673 81979888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447384,nssv1447395,nssv1447407 M 95 3 0 "" nsv520460 1 81847088 81856328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697434 S 2026 0 1 "" nsv499801 1 81852135 81854459 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585486 S 9 0 0 "" nsv7178 1 81853674 81892460 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4376 S 9 0 0 "" NA12878 esv999385 1 81857836 81857886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578536 S 3 0 1 "" HuRef nsv160952 1 81857837 81857887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179530 M 24 "" esv1159587 1 81972605 81973362 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870215 S 2 0 1 "" HuRef nsv506937 1 82000838 82006838 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617533,nssv623272,nssv620658 M 4 3 0 "" CHM,NA15510,NA18994 nsv823331 1 82003662 82004183 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434175 S 31 0 1 "" NA18570 esv272877 1 82084613 82084945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584774,essv2583664 M 7 2 0 Samples from several populations that are part of the HapMap project. LPHN2 NA19239,NA19240 esv271483 1 82084614 82084948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565687,essv2541005,essv2571576,essv2546239,essv2522902,essv2545699,essv2532001,essv2548508,essv2521580,essv2576655,essv2525278,essv2550513,essv2544247,essv2547497,essv2529335,essv2577809,essv2559494,essv2520821,essv2557114,essv2552574,essv2551946,essv2569460,essv2539098,essv2551097,essv2569053,essv2543688,essv2539360,essv2534011,essv2529637,essv2575376,essv2526320,essv2524206,essv2574934,essv2546112,essv2574380,essv2551282,essv2538070,essv2549002,essv2533186,essv2554671,essv2525145,essv2557999 M 157 42 0 Samples from several populations that are part of the HapMap project. LPHN2 NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11829,NA11831,NA11840,NA11881,NA11931,NA12003,NA12006,NA12045,NA12144,NA12154,NA12156,NA12234,NA12414,NA12717,NA12749,NA12761,NA12776,NA18498,NA18501,NA18502,NA18504,NA18508,NA18519,NA18858,NA18861,NA18870,NA18912,NA18916,NA19093,NA19099,NA19114,NA19129,NA19138,NA19239,NA19240,NA19257 nsv437590 1 82184462 82187284 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467471 S 60 0 1 Samples from several populations that are part of the HapMap project. LPHN2 NA10861 nsv437226 1 82184462 82190140 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467107 S 60 0 1 Samples from several populations that are part of the HapMap project. LPHN2 NA19173 nsv526394 1 82349862 82350892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702693 S 2026 0 1 "" nsv830370 1 82356324 82576932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447418 S 95 1 0 "" nsv521171 1 82459642 82462594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694422 S 2026 0 1 "" nsv509357 1 82481034 82505504 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623785 S 4 1 0 "" NA18994 esv1104195 1 82494275 82494275 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876871 S 2 1 0 "" HuRef esv29844 1 82576604 82578358 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19120 S 451 1 0 "" NA07045 esv259977 1 82653159 82653477 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399036,essv2398080,essv2399378,essv2399271,essv2396531,essv2395218 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12144,NA12287,NA18508,NA18517,NA19108 nsv159508 1 82665083 82672074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178086 M 24 "" nsv520462 1 82673852 82676831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697435 S 2026 0 1 "" esv2601757 1 82735279 82736732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277916 S 1 0 1 "" NA18507 esv2118095 1 82735761 82736394 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870940 S 1 0 1 "" NA18507 nsv871203 1 82764221 82843453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578658 S 6533 0 1 "" IS34856 nsv470723 1 82795183 82844938 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547749 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00712 esv259853 1 82795279 82795595 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399276,essv2399570,essv2395871,essv2398193,essv2394804,essv2397206 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18570,NA18945,NA18949,NA19114,NA19225 nsv528062 1 82805020 82817399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704598 S 2026 0 1 "" esv2481329 1 82814181 82815920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304834 S 1 0 1 "" NA18507 esv2288624 1 82815047 82815734 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508229 S 1 0 1 "" NA18507 esv2805 1 82815197 82815622 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25246 S 1 0 1 Single Asian sample YH "" YH esv8094 1 82815229 82815580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30535 S 1 0 1 "" SJK nsv159537 1 82815233 82815552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178115 M 24 "" esv268833 1 82845577 82845662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515092 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv2750841 1 82851559 82950167 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983218,essv6983217,essv6989755,essv6989353 M 771 0 1 "" BEC_557 esv990799 1 82896924 82901062 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565730 S 3 0 1 "" HuRef nsv511702 1 82898496 82900834 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626342 S 1 0 1 "" 1 esv4307 1 82898511 82900299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26748 S 1 0 1 Single Asian sample YH "" YH esv1040469 1 82898546 82900157 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154023 S 2 0 1 "" HuRef esv988721 1 82898556 82900166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584536 S 3 0 1 "" HuRef esv7649 1 82898568 82900153 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30090 S 1 0 1 "" SJK esv2342174 1 82922263 82922701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809019 S 1 0 1 "" NA18507 nsv871305 1 82969009 83021628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572904 S 6533 0 1 "" IS33196 nsv1677 1 83015818 83047519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10076 S 9 1 0 "" NA18956 nsv819233 1 83027351 83030913 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419558 S 2 1 0 "" AK1 esv3760 1 83074867 83076972 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26201 S 1 0 1 Single Asian sample YH "" YH nsv823342 1 83074869 83076923 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440819,nssv1423967,nssv1426400,nssv1427260 M 31 0 4 "" AK6,AK8,NA18582,NA18969 nsv524169 1 83082401 83103706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700049 S 2026 0 1 "" dgv65e1 1 83101150 83780899 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3880,essv13524,essv24791,essv14706,essv14544,essv10204,essv6899,essv15760,essv13028,essv15361,essv9795,essv12326,essv9062,esv859,essv16243,essv18979 M 271 0 0 "" NA10860,NA12005,NA18605,NA18859,NA18862,NA18863,NA18994,NA19131,NA19132,NA19138,NA19152,NA19159,NA19160,NA19161,NA19202 nsv830381 1 83172924 83336614 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447495,nssv1447506,nssv1447440,nssv1447451,nssv1447429,nssv1447518,nssv1447529,nssv1447540,nssv1447462,nssv1447484,nssv1447473 M 95 11 0 "" nsv1688 1 83203451 83236020 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10082 S 9 1 0 "" NA18956 esv2395733 1 83251673 83252065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746946 S 1 0 1 "" NA18507 esv1000088 1 83251853 83251912 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578626 S 3 0 1 "" HuRef nsv871939 1 83257082 83329277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559942 S 6533 0 1 "" MS24225 esv1148205 1 83257350 83257477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343288 S 2 0 1 "" HuRef nsv1699 1 83257605 83303144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6719 S 9 0 1 "" NA12156 nsv428113 1 83269464 83780899 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450476,nssv450487 M 62 2 0 "" NA18498,NA19181 nsv506938 1 83358896 83364896 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619238,nssv623273 M 4 2 0 "" NA10860,NA18994 esv1003701 1 83361353 83361353 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581080 S 3 1 0 "" HuRef nsv462372 1 83369889 83489547 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538551 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 esv27722 1 83370836 83727807 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19089,esv13363 M 451 1 1 "" NA12776,NA18907 essv8077 1 83375945 83716816 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19161 esv2613202 1 83377100 83702376 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268501 S 1 0 1 "" NA18507 nsv10339 1 83389337 83394143 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15762 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv870506 1 83402403 83513112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598762 S 6533 1 0 "" IS40867 dgv262n71 1 83402403 83600861 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871197,nsv870490,nsv871480 M 6533 3 0 "" IS30129,IS38496,IS39243 dgv66e1 1 83433954 83780899 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24568,essv14435,essv16349,essv23337 M 271 0 0 "" NA11992,NA12750,NA19193,NA19201 nsv518391 1 83437707 83489547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695821 S 2026 0 1 "" nsv1710 1 83452973 83487164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6728 S 9 0 1 "" NA12156 esv33133 1 83495639 83512991 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98965 S 51 0 1 "" 21938 esv33892 1 83512991 83545170 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100911 S 51 1 0 "" 21656 esv988709 1 83516582 83520681 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586728 S 3 1 0 "" HuRef nsv830392 1 83591075 83761968 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447551 S 95 1 0 "" nsv871481 1 83600861 83704367 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563918 S 6533 1 0 "" IS30129 nsv818256 1 83618302 83629957 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415803,nssv1415802 M 112 2 0 "" NA10860,NA11992 nsv830403 1 83631583 83708958 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447562 S 95 0 1 "" dgv67e1 1 83644538 83710817 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22248,essv13228 M 271 0 0 "" NA11992,NA19131 nsv508020 1 83786238 83792238 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624214,nssv621471,nssv622292 M 4 0 3 "" NA10860,NA15510,NA18994 esv259839 1 83828712 83830032 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398581,essv2395650,essv2399326,essv2397436,essv2394684,essv2400661 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18501,NA18522,NA18566,NA18870,NA18912 esv270595 1 83842626 83842746 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494326,essv2493199,essv2505691,essv2501510,essv2510401,essv2496963,essv2512182,essv2498073 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18861,NA19093,NA19172,NA19190,NA19238,NA19240 esv273400 1 83842635 83842900 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580698 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv506939 1 83866456 83872456 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619239,nssv623274,nssv620659 M 4 3 0 "" NA10860,NA15510,NA18994 esv29802 1 83898773 83899674 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12667 S 451 0 1 "" NA11894 nsv506940 1 83918146 83924146 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619240,nssv620660,nssv623275 M 4 3 0 "" NA10860,NA15510,NA18994 nsv1721 1 83960967 83992523 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10089 S 9 1 0 "" NA18956 esv33088 1 84007222 84008354 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93620 S 51 0 1 "" 21972 esv33557 1 84008760 84009436 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98290 S 51 1 0 "" 21772 esv32823 1 84009192 84009436 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93612,essv99588,essv98097 M 51 3 0 "" 21972,22217,22259 esv2133471 1 84044322 84044810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942227 S 1 0 1 "" NA18507 esv3743 1 84044435 84044702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26184 S 1 0 1 Single Asian sample YH "" YH nsv523508 1 84082781 84087342 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699279 S 2026 0 1 "" nsv871551 1 84127052 84225811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507178 S 6533 0 1 TTLL7 SP54490 esv1612380 1 84130834 84130890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596406 S 2 0 1 TTLL7 HuRef esv1339682 1 84131037 84131037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902609 S 2 1 0 TTLL7 HuRef esv26427 1 84160949 84161528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10079 S 451 0 1 TTLL7 NA18508 nsv823353 1 84236771 84237686 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431820 S 31 0 1 TTLL7 AK20 nsv1732 1 84271686 84317223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9965,nssv1234,nssv10090,nssv2200,nssv6738,nssv5702 M 9 0 6 PRKACB NA12156,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508360 1 84272818 84297585 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618978,nssv622770 M 4 0 2 "" NA10860,NA18994 esv2479910 1 84288798 84297395 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286481 S 1 0 1 "" NA18507 esv988476 1 84289283 84298593 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564344 S 3 0 1 "" HuRef dgv3n16 1 84289565 84297825 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435898,nsv436189 M 2 0 2 "" NA15510,NA18505 esv2456007 1 84289592 84297728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203624 S 1 0 1 "" NA18507 nsv511703 1 84289742 84298126 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626344 S 1 0 1 "" 1 nsv871655 1 84289849 84323437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518109 S 6533 0 1 PRKACB SP57469 esv1935205 1 84290332 84297436 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671024 S 1 0 1 "" NA18507 esv3939 1 84290484 84297278 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26380 S 1 0 1 Single Asian sample YH "" YH nsv498674 1 84290513 84297232 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585386 S 9 0 1 "" esv8773 1 84290530 84297217 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31214 S 1 0 1 "" SJK nsv871731 1 84369984 84431179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541403 S 6533 0 1 PRKACB MS15312 nsv871656 1 84373636 84466259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507179 S 6533 0 1 PRKACB SP54490 nsv871375 1 84395381 84451006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551695 S 6533 0 1 PRKACB MS18978 dgv263n71 1 84401243 84490571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871538,nsv871643 M 6533 0 2 PRKACB IS31554,MS25751 nsv830414 1 84409326 84597239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447573 S 95 1 0 PRKACB,SAMD13 nsv830426 1 84477512 84628817 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447584 S 95 1 0 SAMD13,UOX esv2527540 1 84482617 84489212 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276218 S 1 0 1 "" NA18507 nsv436488 1 84483817 84488581 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466106 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2607567 1 84484000 84489171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346926 S 1 0 1 "" NA18507 esv28371 1 84484209 84488397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20356 S 451 0 11 "" NA11894,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19190 esv2121386 1 84484410 84488630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584030 S 1 0 1 "" NA18507 esv3878 1 84484558 84488532 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26319 S 1 0 1 Single Asian sample YH "" YH esv5501 1 84484595 84488457 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27942 S 1 0 1 "" SJK dgv53n67 1 84484719 84488478 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823376,nsv823365 M 31 0 17 "" AK12,AK18,AK2,AK6,AK8,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973 nsv819402 1 84484742 84488508 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419577 S 2 0 1 "" AK1 esv2421602 1 84486421 84488030 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5072360,essv5082240,essv5157315,essv5031880,essv5115104,essv5113782,essv5014683,essv5137000,essv5094216,essv5079988,essv5062288,essv5140623,essv5101225,essv5153786,essv5065846,essv5086987,essv5053867,essv5030210,essv5127002,essv5105131,essv5044710,essv5078964,essv5008627,essv5131868,essv5122308,essv5147869,essv5025560,essv5155751,essv5122768,essv5013770,essv5132363,essv5139232,essv5129329,essv5057996,essv5081740,essv5140780,essv5013948,essv5153872,essv5092042,essv5016901,essv5022444,essv5002035,essv5090757,essv5156654,essv5049807,essv5107031,essv5041871,essv5129938,essv5011629,essv5118932,essv5024550,essv5159355,essv5127696,essv5141608,essv5123790,essv5069893,essv5019898,essv5125815,essv5003977,essv5149386,essv5109764,essv5052285,essv5007581,essv5144174,essv5019381,essv5046534,essv5032739,essv5055462,essv5099816,essv5026912,essv5078787,essv5046031,essv5045813,essv5015461,essv5048489,essv5131850,essv5030876,essv5140344,essv5049303,essv5033117,essv5067729,essv5130973,essv5051222,essv5085838,essv5099595,essv5057696,essv5041859,essv5008605,essv5106907,essv5145330,essv5060835,essv5067771,essv5066543,essv5042077,essv5085789,essv5115865,essv5079048,essv5139812,essv5032001,essv5066118,essv5147239,essv5070191,essv5069590,essv5126376,essv5071833,essv5071479,essv5104304,essv5051207,essv5007833,essv5139872,essv5010750,essv5139542,essv5130500,essv5035368,essv5069154,essv5032906,essv5095908,essv5098787,essv5101779,essv5042811,essv5140324,essv5157353,essv5155100,essv5005534,essv5043570,essv5025710,essv5139475,essv5030122,essv5010516,essv5105604,essv5039410,essv5127804,essv5078770,essv5114555,essv5061238,essv5144802,essv5146268,essv5147763,essv5093628,essv5088323,essv5131933,essv5155465,essv5104038,essv5035524,essv5115907,essv5144039,essv5069454,essv5142623,essv5087579,essv5013322,essv5018585,essv5075735,essv5138399,essv5075673,essv5093304,essv5056926,essv5061760,essv5083163,essv5157160,essv5086783,essv5081276,essv5109327,essv5095297,essv5036545,essv5042339,essv5063048,essv5053979,essv5065994,essv5149694,essv5064316,essv5009782,essv5078967,essv5009959,essv5034208,essv5002195,essv5035329,essv5084755,essv5086721,essv5131571,essv5027769,essv5022481,essv5090051,essv5161051,essv5039772,essv5042836,essv5025769,essv5121903,essv5070357,essv5134890,essv5083301,essv5072275,essv5104063,essv5040762,essv5052318,essv5125870,essv5156967,essv5061865,essv5149932,essv5155334,essv5086076,essv5133146,essv5122011,essv5113291,essv5112978,essv5081849,essv5041285,essv5151978,essv5004240,essv5028221,essv5130462,essv5011411,essv5132121,essv5032023,essv5139589,essv5125203,essv5028958,essv5065837,essv5042169,essv5100088,essv5046795,essv5076201,essv5023201,essv5141508,essv5145055,essv5056657,essv5032186,essv5085078,essv5124679,essv5106053,essv5055375,essv5059852,essv5099558,essv5091152,essv5146408,essv5016494,essv5154755,essv5075706,essv5094693,essv5113300,essv5060336,essv5034611,essv5016042,essv5015046,essv5099831,essv5051764,essv5146490,essv5157676,essv5149214,essv5044677,essv5150027,essv5090863,essv5005626,essv5039332,essv5135607,essv5061933,essv5114785,essv5122502,essv5110583,essv5043771,essv5080960,essv5077761,essv5047435,essv5147267,essv5023326,essv5057908,essv5008837,essv5131762,essv5149540,essv5066466,essv5002563,essv5106693,essv5130080,essv5083894,essv5013996,essv5036963,essv5120822,essv5056011,essv5077514,essv5020301,essv5030934,essv5099513,essv5155587,essv5053191,essv5082517,essv5018251,essv5023028,essv5006750,essv5150231,essv5143356,essv5071563,essv5062998,essv5035684,essv5033297,essv5120375,essv5032574,essv5039560,essv5113726,essv5112639,essv5137746,essv5118213,essv5014880,essv5149572,essv5002468,essv5024874,essv5145663,essv5074498,essv5040719,essv5053590,essv5023726,essv5036168,essv5084429,essv5011359,essv5103714,essv5074916,essv5092560,essv5063959,essv5158207,essv5119390,essv5068871,essv5091057,essv5091624,essv5046320,essv5120494,essv5073215,essv5029449,essv5082651,essv5011977,essv5130479,essv5108296,essv5040440,essv5004590,essv5138240,essv5139992,essv5137341,essv5116366,essv5156079,essv5134238,essv5092338,essv5087411,essv5108389,essv5033306,essv5105566,essv5138091,essv5062182,essv5090652,essv5142039,essv5159112,essv5038200,essv5078268,essv5042673,essv5089817,essv5099025,essv5143554,essv5025471,essv5052518,essv5054244,essv5142273,essv5087128,essv5081303,essv5061210,essv5115169,essv5118776,essv5011251,essv5091021,essv5131925,essv5126454,essv5113002,essv5081827,essv5011716,essv5034134,essv5023319,essv5128985,essv5038043,essv5104043,essv5049221,essv5145681,essv5020445,essv5069462,essv5010693,essv5022066,essv5058979,essv5084857,essv5008386,essv5156254,essv5142652,essv5083153,essv5117188,essv5026033,essv5001913,essv5013760,essv5117491,essv5091840,essv5028197,essv5072563,essv5112764,essv5132219,essv5138830,essv5082605,essv5158143,essv5003135,essv5035810,essv5060556,essv5108572,essv5086850,essv5086734,essv5140974,essv5137058,essv5021538,essv5115746,essv5094211,essv5142202,essv5004703,essv5123364,essv5013787,essv5011197,essv5025818,essv5033821,essv5043384,essv5062557,essv5018176,essv5147793,essv5131509,essv5145883,essv5013382,essv5146597,essv5076888,essv5083682,essv5080405,essv5044011,essv5087164,essv5082880,essv5076007,essv5018426,essv5158429,essv5010560,essv5141629,essv5027673,essv5029189,essv5101232,essv5115622,essv5039381,essv5156827,essv5158711,essv5003556,essv5022677,essv5042848,essv5078895,essv5080356,essv5152333,essv5130846,essv5085299,essv5019391 M 1184 0 452 "" NA10864,NA11843,NA11894,NA12282,NA12707,NA12716,NA12778,NA12864,NA12865,NA12873,NA12890,NA17962,NA17967,NA17968,NA17969,NA17970,NA17975,NA17977,NA17979,NA17981,NA17983,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18108,NA18112,NA18117,NA18118,NA18120,NA18124,NA18125,NA18129,NA18132,NA18134,NA18135,NA18136,NA18139,NA18141,NA18144,NA18146,NA18150,NA18152,NA18154,NA18159,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18503,NA18504,NA18506,NA18507,NA18508,NA18511,NA18517,NA18518,NA18520,NA18524,NA18529,NA18532,NA18534,NA18537,NA18542,NA18545,NA18550,NA18552,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18595,NA18596,NA18597,NA18602,NA18603,NA18608,NA18610,NA18612,NA18614,NA18615,NA18617,NA18620,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18633,NA18634,NA18637,NA18639,NA18647,NA18674,NA18682,NA18685,NA18694,NA18696,NA18740,NA18745,NA18747,NA18757,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18867,NA18868,NA18869,NA18873,NA18909,NA18910,NA18911,NA18914,NA18917,NA18923,NA18925,NA18934,NA18935,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18953,NA18957,NA18960,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18973,NA18975,NA18976,NA18977,NA18978,NA18979,NA18981,NA18991,NA18994,NA19002,NA19005,NA19027,NA19028,NA19031,NA19054,NA19055,NA19056,NA19058,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19072,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19083,NA19086,NA19087,NA19093,NA19099,NA19102,NA19103,NA19117,NA19119,NA19120,NA19131,NA19137,NA19139,NA19146,NA19148,NA19153,NA19154,NA19159,NA19161,NA19172,NA19173,NA19174,NA19176,NA19181,NA19182,NA19183,NA19185,NA19186,NA19189,NA19190,NA19191,NA19198,NA19201,NA19204,NA19213,NA19215,NA19239,NA19248,NA19249,NA19256,NA19308,NA19309,NA19311,NA19313,NA19324,NA19332,NA19334,NA19350,NA19352,NA19372,NA19375,NA19377,NA19384,NA19385,NA19391,NA19394,NA19396,NA19403,NA19428,NA19430,NA19431,NA19435,NA19437,NA19439,NA19440,NA19443,NA19446,NA19455,NA19456,NA19462,NA19469,NA19470,NA19471,NA19473,NA19649,NA19650,NA19657,NA19660,NA19661,NA19663,NA19664,NA19665,NA19669,NA19682,NA19685,NA19703,NA19708,NA19711,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19725,NA19755,NA19759,NA19760,NA19761,NA19763,NA19770,NA19772,NA19774,NA19788,NA19789,NA19790,NA19795,NA19818,NA19900,NA19902,NA19908,NA19909,NA19917,NA19918,NA19919,NA19921,NA19982,NA20127,NA20289,NA20291,NA20294,NA20295,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20341,NA20343,NA20346,NA20347,NA20348,NA20357,NA20360,NA20775,NA20783,NA20807,NA20845,NA20847,NA20849,NA20856,NA20869,NA20871,NA20873,NA20875,NA20876,NA20889,NA20892,NA20895,NA20901,NA20902,NA20903,NA21086,NA21089,NA21092,NA21098,NA21101,NA21102,NA21105,NA21111,NA21113,NA21115,NA21137,NA21141,NA21300,NA21301,NA21302,NA21303,NA21307,NA21316,NA21318,NA21320,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21362,NA21367,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21387,NA21389,NA21390,NA21408,NA21415,NA21421,NA21423,NA21424,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21453,NA21454,NA21475,NA21476,NA21477,NA21480,NA21485,NA21486,NA21488,NA21489,NA21490,NA21491,NA21493,NA21512,NA21517,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21573,NA21576,NA21577,NA21583,NA21587,NA21596,NA21600,NA21601,NA21615,NA21616,NA21619,NA21620,NA21631,NA21647,NA21678,NA21682,NA21717,NA21718,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768 nsv506941 1 84521939 84527939 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623276 S 4 1 0 "" NA18994 nsv1744 1 84587316 84619778 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6744 S 9 1 0 SAMD13,UOX NA12156 nsv830437 1 84610112 84773857 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447606,nssv1447595 M 95 1 1 DNASE2B,GNG5,RPF1,UOX nsv823387 1 84649258 84649878 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437950 S 31 0 1 DNASE2B NA18951 esv26524 1 84668422 84672134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13604 S 451 0 1 "" NA19099 nsv441698 1 84668621 84670569 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv267919 1 84685800 84686172 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516678,essv2519178,essv2514102,essv2515367,essv2515123,essv2517921,essv2516082,essv2519466 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11894,NA12043,NA12249,NA12812,NA12872,NA12873 esv1648734 1 84685862 84685862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610667 S 2 1 0 "" HuRef nsv1755 1 84744997 84780303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1242 S 9 1 0 "" NA19240 esv270553 1 84827108 84827364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506209,essv2507137,essv2501387,essv2512165,essv2501793,essv2498180 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18870,NA19093,NA19238,NA19239,NA19240 esv272848 1 84827116 84827449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579891,essv2580811,essv2579212,essv2579440 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv516470 1 85012152 85013886 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690492,nssv668576,nssv686856,nssv704475,nssv658797 M 2026 1 4 "" nsv830448 1 85066682 85263698 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447617,nssv1447629 M 95 0 2 LPAR3,MCOLN2,MCOLN3 nsv470724 1 85107376 85357848 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547750 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LPAR3,MCOLN2,MCOLN3,WDR63 HGDP01029 nsv462383 1 85107376 85367054 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538558 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LPAR3,MCOLN2,MCOLN3,WDR63 HGDP01029 esv1124396 1 85160734 85160734 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366379 S 2 1 0 "" HuRef esv267474 1 85164953 85165038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519039 S 157 1 0 Samples from several populations that are part of the HapMap project. MCOLN2 NA19141 nsv521770 1 85311535 85312392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694537 S 2026 0 1 WDR63 nsv523150 1 85311535 85313752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698858 S 2026 0 1 WDR63 esv34165 1 85314628 85618837 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BCL10,C1orf52,DDAH1,MIR4423,SYDE2,WDR63 nsv830459 1 85362173 85558899 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447640 S 95 0 1 BCL10,C1orf52,DDAH1,MIR4423,SYDE2,WDR63 esv2617162 1 85392274 85393025 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320527 S 1 1 0 "" NA18507 esv23473 1 85438779 85440284 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17132 S 451 0 2 SYDE2 NA12156,NA12489 nsv523891 1 85454849 85455180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699734 S 2026 0 1 "" esv2574928 1 85520851 85522497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229260 S 1 0 1 "" NA18507 dgv2e194 1 85521006 85521742 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2304016,esv2065463 M 1 0 1 "" NA18507 esv1008164 1 85521036 85522281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565455 S 3 0 1 "" HuRef esv3232 1 85521125 85521666 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25673 S 1 0 1 Single Asian sample YH "" YH esv1010849 1 85521210 85521539 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570793 S 3 0 1 "" HuRef esv1266887 1 85521222 85521552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138331 S 2 0 1 "" HuRef esv8174 1 85521226 85521550 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30615 S 1 0 1 "" SJK nsv830470 1 85593363 85786668 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447651 S 95 0 1 DDAH1 nsv1766 1 85650741 85683808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7335 S 9 1 0 DDAH1 NA12156 nsv441699 1 85683879 85687990 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DDAH1 nsv821007 1 85745063 85779087 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420414 S 1 1 0 DDAH1 NA10851 nsv823398 1 85745063 85779087 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427264 S 31 0 1 DDAH1 AK8 esv21828 1 85746606 85778249 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10272 S 451 2 0 DDAH1 NA15510,NA19114 esv2647869 1 85747031 85778417 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288249 S 1 1 0 DDAH1 NA18507 nsv436030 1 85755226 85777102 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466117 S 2 1 0 DDAH1 NA15510 esv2440186 1 85765270 85766664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236752 S 1 0 1 DDAH1 NA18507 nsv871471 1 85915672 85984104 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502227 S 6533 1 0 COL24A1,ZNHIT6 SP51054 nsv509369 1 85919821 85955612 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623786 S 4 1 0 ZNHIT6 NA18994 nsv506942 1 85946074 85952074 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620661 S 4 1 0 ZNHIT6 NA15510 esv25228 1 86069229 86070139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15952 S 451 0 2 COL24A1 NA11894,NA15510 nsv871189 1 86088312 86174832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588033 S 6533 0 1 COL24A1 IS38148 nsv823409 1 86115426 86125151 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436346 S 31 0 1 COL24A1 NA18542 nsv870724 1 86125398 86174832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500470 S 6533 0 1 COL24A1 SP50649 nsv462395 1 86152102 86229922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538568 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL24A1 HGDP01345 nsv522304 1 86158464 86174832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695085 S 2026 1 0 COL24A1 nsv437701 1 86158464 86188931 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467582 S 60 0 1 Samples from several populations that are part of the HapMap project. COL24A1 NA12753 nsv10350 1 86173149 86177434 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17418,nssv15771,nssv15437,nssv17414,nssv18754,nssv14096 M 31 0 6 Samples from several populations that are part of the HapMap project. COL24A1 NA10839,NA18517,NA18563,NA18564,NA18860,NA19007 dgv54n67 1 86173280 86177332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823431,nsv823442,nsv823420,nsv823453 M 31 0 12 COL24A1 AK12,AK16,AK18,AK8,NA18526,NA18542,NA18547,NA18564,NA18592,NA18968,NA18973,NA18999 nsv819896 1 86173303 86177711 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419635 S 2 0 1 COL24A1 AK1 esv23326 1 86173335 86177263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10764 S 451 0 5 COL24A1 NA07037,NA12004,NA12414,NA18517,NA19225 esv4489 1 86173388 86177299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26930 S 1 0 1 Single Asian sample YH COL24A1 YH nsv508371 1 86173412 86203435 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617500 S 4 0 1 COL24A1 CHM esv2421338 1 86174832 86176913 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005077,essv5037580,essv5072226,essv5084107,essv5044199,essv5036019,essv5071079,essv5154514,essv5145422,essv5074500,essv5140010,essv5017191,essv5030580,essv5048441,essv5077634,essv5003627,essv5009127,essv5086718,essv5127185,essv5056872,essv5079219,essv5005641,essv5069962,essv5125124,essv5149980,essv5090090,essv5071552,essv5117387,essv5054019,essv5035370,essv5062106,essv5078118,essv5090976,essv5112176,essv5155165,essv5066603,essv5072394,essv5039552,essv5059376,essv5093326,essv5061787,essv5127527,essv5064217,essv5108998,essv5153669,essv5093994,essv5070996,essv5099591,essv5020614,essv5088412,essv5074191,essv5045339,essv5029790,essv5147609,essv5040602,essv5140728,essv5027724,essv5066117,essv5087303,essv5080124,essv5158613,essv5056546,essv5155012,essv5152381,essv5128994,essv5007803,essv5080067,essv5017572,essv5095756,essv5040937,essv5157122,essv5140469,essv5098335,essv5034452,essv5111378,essv5022057,essv5105515,essv5141474,essv5141969,essv5025210,essv5042552,essv5073666,essv5146402,essv5010096,essv5114763,essv5041234,essv5057417,essv5019389,essv5159176,essv5054610,essv5034235,essv5062274,essv5044643,essv5043834,essv5100213,essv5034747,essv5037010,essv5085696,essv5129888,essv5045093,essv5122825,essv5075568,essv5069860,essv5075225,essv5030386,essv5045293,essv5095594,essv5129234,essv5103767,essv5100316,essv5104661,essv5004665,essv5034520,essv5061955,essv5159007,essv5145495,essv5152179,essv5082407,essv5091273,essv5130101,essv5078170,essv5110922,essv5116947,essv5070715,essv5136110,essv5055114,essv5067678,essv5087513,essv5111573,essv5118737,essv5095821,essv5139956,essv5129081,essv5059266,essv5142037,essv5128936,essv5134135,essv5160160,essv5102420,essv5090990,essv5043234,essv5031234,essv5079930,essv5075002,essv5049454,essv5121838,essv5058103,essv5075353,essv5046218,essv5077561,essv5136615,essv5157325,essv5049140,essv5105170,essv5157489,essv5104889,essv5148507,essv5076002,essv5098529,essv5161002,essv5079786,essv5108041,essv5135844,essv5133137,essv5155614,essv5108252,essv5056574,essv5040165,essv5128112,essv5112306,essv5110383,essv5073605,essv5003031,essv5149792,essv5027971,essv5106505,essv5086913,essv5020410,essv5129704,essv5017974,essv5073071,essv5142257,essv5147072,essv5093008,essv5092150,essv5106196,essv5010783,essv5062778,essv5104267,essv5097245,essv5075783,essv5092647,essv5137538,essv5111574,essv5062114,essv5028624,essv5138966,essv5008850,essv5123005,essv5091104,essv5061384,essv5125565,essv5120153,essv5003611,essv5047652,essv5118730,essv5022781,essv5037737,essv5020842,essv5136391,essv5156403,essv5112952,essv5093280,essv5132440,essv5067730,essv5128668,essv5033950,essv5056975,essv5048835,essv5044367,essv5038716,essv5116921,essv5158926,essv5050216,essv5085176,essv5146566,essv5063599,essv5090171,essv5089572,essv5077637,essv5134641,essv5160495,essv5128822,essv5069470,essv5149754,essv5079948,essv5068944,essv5020876,essv5043255,essv5055915,essv5093052,essv5129927,essv5021315,essv5006017,essv5050847,essv5072781,essv5123179,essv5106048,essv5057045,essv5115712,essv5141988,essv5086367,essv5022335,essv5003023,essv5087907,essv5098496,essv5069319,essv5087719,essv5094940,essv5036618,essv5064385,essv5109688,essv5027742,essv5010698,essv5123952,essv5023338,essv5024006,essv5158698,essv5158757,essv5141801,essv5104499,essv5141743,essv5155129,essv5157268,essv5080984,essv5153305,essv5022934,essv5045576,essv5091087,essv5064144,essv5098254,essv5116487,essv5018389,essv5100276,essv5057205,essv5010623,essv5010272,essv5141430,essv5054096,essv5036486,essv5063669,essv5105282,essv5118295,essv5065323,essv5038130,essv5127037,essv5121670,essv5059476,essv5103328,essv5019606,essv5052230,essv5074514,essv5116722,essv5038357,essv5053364,essv5136831,essv5160055,essv5085228,essv5010082,essv5095759,essv5103151,essv5121620,essv5030458,essv5145793,essv5146950,essv5080571 M 1184 0 316 COL24A1 NA06986,NA06997,NA07037,NA10837,NA10838,NA10839,NA10859,NA10865,NA11891,NA11892,NA11918,NA11930,NA12005,NA12144,NA12273,NA12335,NA12340,NA12347,NA12753,NA12760,NA12762,NA12767,NA12777,NA12813,NA12864,NA12873,NA12891,NA17962,NA17966,NA17969,NA17976,NA17980,NA17981,NA17996,NA17999,NA18101,NA18105,NA18107,NA18112,NA18117,NA18120,NA18127,NA18129,NA18131,NA18132,NA18134,NA18135,NA18138,NA18139,NA18140,NA18143,NA18146,NA18149,NA18159,NA18160,NA18484,NA18486,NA18515,NA18517,NA18524,NA18526,NA18534,NA18542,NA18544,NA18546,NA18550,NA18563,NA18564,NA18579,NA18593,NA18596,NA18599,NA18602,NA18603,NA18611,NA18614,NA18619,NA18620,NA18622,NA18631,NA18632,NA18633,NA18638,NA18641,NA18642,NA18643,NA18745,NA18748,NA18859,NA18860,NA18874,NA18910,NA18939,NA18943,NA18944,NA18945,NA18946,NA18948,NA18952,NA18954,NA18955,NA18957,NA18962,NA18963,NA18964,NA18967,NA18968,NA18971,NA18973,NA18974,NA18977,NA18979,NA18981,NA18987,NA18990,NA18994,NA18999,NA19000,NA19005,NA19007,NA19009,NA19010,NA19058,NA19059,NA19062,NA19076,NA19077,NA19079,NA19086,NA19088,NA19095,NA19097,NA19113,NA19116,NA19130,NA19159,NA19178,NA19189,NA19191,NA19201,NA19203,NA19204,NA19223,NA19224,NA19225,NA19309,NA19310,NA19318,NA19324,NA19327,NA19332,NA19359,NA19371,NA19373,NA19374,NA19376,NA19380,NA19384,NA19391,NA19394,NA19396,NA19440,NA19445,NA19466,NA19474,NA19625,NA19649,NA19650,NA19657,NA19659,NA19663,NA19676,NA19712,NA19713,NA19716,NA19719,NA19725,NA19747,NA19748,NA19756,NA19759,NA19760,NA19761,NA19774,NA19779,NA19781,NA19782,NA19783,NA19788,NA19790,NA19818,NA19834,NA19835,NA19836,NA19901,NA19909,NA19919,NA19983,NA20301,NA20302,NA20334,NA20335,NA20344,NA20348,NA20350,NA20505,NA20506,NA20508,NA20527,NA20531,NA20534,NA20539,NA20540,NA20542,NA20544,NA20753,NA20756,NA20758,NA20761,NA20765,NA20771,NA20783,NA20786,NA20790,NA20792,NA20804,NA20806,NA20807,NA20808,NA20812,NA20818,NA20819,NA20826,NA20845,NA20849,NA20850,NA20852,NA20854,NA20856,NA20859,NA20861,NA20862,NA20866,NA20871,NA20872,NA20873,NA20876,NA20877,NA20883,NA20885,NA20887,NA20888,NA20894,NA20902,NA20903,NA20906,NA20908,NA20911,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21104,NA21105,NA21107,NA21109,NA21111,NA21113,NA21117,NA21118,NA21123,NA21125,NA21137,NA21143,NA21144,NA21295,NA21300,NA21307,NA21308,NA21309,NA21352,NA21363,NA21378,NA21381,NA21383,NA21384,NA21386,NA21388,NA21389,NA21408,NA21415,NA21417,NA21441,NA21448,NA21451,NA21478,NA21509,NA21517,NA21528,NA21529,NA21573,NA21577,NA21597,NA21611,NA21614,NA21619,NA21620,NA21683,NA21686,NA21717,NA21718 nsv433165 1 86174832 86176913 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463046 S 9 0 1 Samples from several populations that are part of the HapMap project. COL24A1 NA18517 nsv437871 1 86175057 86177084 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471590,nssv471579 M 269 0 2 Samples from several populations that are part of the HapMap project. COL24A1 NA12753,NA12762 esv2595836 1 86177736 86179181 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370760 S 1 0 1 COL24A1 NA18507 nsv511704 1 86178086 86178908 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626345 S 1 0 1 COL24A1 1 esv2075404 1 86178196 86178903 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939520 S 1 0 1 COL24A1 NA18507 esv3715 1 86178348 86178857 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26156 S 1 0 1 Single Asian sample YH COL24A1 YH esv995781 1 86178383 86178710 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571155 S 3 0 1 COL24A1 HuRef esv8255 1 86178387 86178709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30696 S 1 0 1 COL24A1 SJK esv1017473 1 86178393 86178721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294523 S 2 0 1 COL24A1 HuRef nsv462406 1 86184765 86282584 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538575 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL24A1 HGDP01198 nsv525678 1 86260502 86322086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701836 S 2026 0 1 COL24A1 esv1008311 1 86320194 86320960 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587264 S 3 0 1 COL24A1 HuRef nsv830481 1 86322862 86509878 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447662 S 95 1 0 COL24A1 nsv506943 1 86343780 86349780 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619241 S 4 1 0 COL24A1 NA10860 esv269628 1 86469495 86469726 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500423,essv2500008,essv2500661,essv2512718,essv2507458,essv2505411,essv2503688 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18558,NA18571,NA18577,NA18638,NA18952,NA18960 dgv7n21 1 86476779 86479953 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525420,nsv525653 M 2026 0 2 "" nsv525045 1 86487318 86490462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701090 S 2026 0 1 "" nsv871223 1 86497111 86557392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565743 S 6533 1 0 "" IS30516 nsv871866 1 86499207 86624008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600845 S 6533 1 0 ODF2L IS41933 esv2551120 1 86513192 86515239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271255 S 1 0 1 "" NA18507 nsv511705 1 86513319 86514903 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626346 S 1 0 1 "" 1 esv4649 1 86513521 86514352 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27090 S 1 0 1 Single Asian sample YH "" YH esv1466406 1 86513574 86514291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028644 S 2 0 1 "" HuRef esv8990 1 86513577 86514287 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31431 S 1 0 1 "" SJK nsv871081 1 86578960 86665407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556537 S 6533 0 1 CLCA2,ODF2L MS22104 nsv521366 1 86689355 86694749 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697976 S 2026 0 1 CLCA2 nsv823464 1 86785526 86787428 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437685 S 31 0 1 CLCA4 NA18547 nsv871378 1 86955036 86988196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514392 S 6533 0 1 SH3GLB1 SP56004 esv1437158 1 87035639 87035639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332147 S 2 1 0 "" HuRef esv1564894 1 87035961 87035961 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869134 S 2 1 0 "" HuRef nsv1777 1 87075739 87110376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2994 S 9 1 0 SEP15 NA18555 esv1340746 1 87138812 87138812 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111922 S 2 1 0 SEP15 HuRef esv1704081 1 87223672 87223738 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834377 S 2 0 1 HS2ST1 HuRef nsv509380 1 87262135 87298802 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621097 S 4 1 0 HS2ST1 NA15510 esv259809 1 87275379 87275655 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399085,essv2397316,essv2398819,essv2394888,essv2394572,essv2398771,essv2398388,essv2396421 M 144 0 0 Samples from several populations that are part of the HapMap project. HS2ST1 NA10851,NA12878,NA18582,NA18942,NA18965,NA19005,NA19093,NA19138 esv259535 1 87275381 87275636 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394104 S 6 0 0 Samples from several populations that are part of the HapMap project. HS2ST1 NA12878 esv1002791 1 87275467 87275467 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583926 S 3 1 0 HS2ST1 HuRef esv1375917 1 87275541 87275541 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194224 S 2 1 0 HS2ST1 HuRef esv1005148 1 87282552 87285023 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565727 S 3 1 0 HS2ST1 HuRef nsv512744 1 87284861 87285084 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625371 S 1 1 0 HS2ST1 1 esv28524 1 87296221 87297034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14712 S 451 0 1 HS2ST1 NA18517 esv2476077 1 87331496 87332557 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196239 S 1 1 0 HS2ST1 NA18507 esv271397 1 87332106 87332373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502932,essv2507437,essv2497728,essv2502272 M 157 4 0 Samples from several populations that are part of the HapMap project. HS2ST1 NA18507,NA18912,NA19147,NA19257 esv23870 1 87352996 87386846 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16675,esv11592 M 451 6 0 LOC339524 NA11993,NA12156,NA12414,NA18858,NA19147,NA19257 nsv1788 1 87379337 87395992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10101 S 9 1 0 LOC339524 NA18956 nsv437812 1 87405608 87416535 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467693 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC339524 NA10855 nsv437882 1 87409982 87412646 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471601,nssv471612 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10855,NA11831 nsv522243 1 87484480 87493441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695023 S 2026 0 1 "" nsv517578 1 87493441 87507691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701135,nssv678000,nssv679264,nssv679722,nssv652421 M 2026 0 5 "" nsv1799 1 87529584 87560902 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10104 S 9 1 0 "" NA18956 esv24748 1 87568971 87569605 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13165 S 451 1 0 LMO4 NA19225 nsv518195 1 87665377 87675612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695619 S 2026 0 1 "" nsv508382 1 87750533 87812254 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618979 S 4 0 1 "" NA10860 esv2112199 1 87819531 87820008 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596049 S 1 0 1 "" NA18507 nsv1810 1 87828384 87873173 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7341 S 9 0 1 "" NA12156 nsv159009 1 87847397 87854193 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177587 M 24 "" nsv870741 1 87927399 87981929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516513 S 6533 0 1 "" SP56849 nsv871539 1 88054349 88131512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554496,nssv1554143,nssv1600568 M 6533 0 3 "" IS41898,MS20630,MS20843 nsv517179 1 88055598 88075192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653937,nssv661396 M 2026 0 2 "" esv1002740 1 88058428 88058583 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571534 S 3 0 1 "" HuRef nsv159923 1 88058429 88058582 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178501 M 24 "" nsv437893 1 88089816 88098295 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471623 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv470725 1 88225891 88817926 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547751 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 nsv522244 1 88256151 88276958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695024 S 2026 0 1 "" nsv462417 1 88256151 88817926 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538586 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 nsv830492 1 88383970 88542802 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447673,nssv1447684 M 95 1 1 "" nsv830503 1 88471795 88649330 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447695 S 95 1 0 "" esv273781 1 88586171 88586529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580701,essv2579584 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268927 1 88586182 88586518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541032,essv2546210,essv2548342,essv2529234,essv2576439,essv2537510,essv2546736,essv2544847,essv2523538,essv2552753,essv2541346,essv2543023,essv2540572,essv2559946,essv2566128,essv2532645,essv2528800,essv2541828,essv2572285,essv2559058,essv2562195,essv2578176,essv2555695,essv2574029,essv2527546,essv2534216,essv2531277,essv2543326,essv2525586,essv2527017,essv2545990 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11881,NA12045,NA12749,NA12814,NA12878,NA12892,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18570,NA18572,NA18576,NA18579,NA18592,NA18609,NA18638,NA18909,NA18940,NA18945,NA18951,NA18952,NA18959,NA18961,NA18965,NA18980,NA19005,NA19239 esv990593 1 88633305 88633305 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581161 S 3 1 0 "" HuRef esv1034966 1 88633306 88633306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948410 S 2 1 0 "" HuRef esv27318 1 88652065 88679387 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16524 S 451 1 0 "" NA11995 esv2594219 1 88695503 88696560 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171155 S 1 1 0 "" NA18507 esv1373305 1 88695515 88695950 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885687 S 2 0 1 "" HuRef nsv1821 1 88720408 88755739 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5710,nssv4384,nssv3002 M 9 3 0 "" NA12878,NA18555,NA19129 esv988026 1 88743407 88745186 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563749 S 3 1 0 "" HuRef esv1673526 1 88745413 88745413 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117122 S 2 1 0 "" HuRef nsv871639 1 88847284 88921381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552677 S 6533 0 1 "" MS19584 nsv823476 1 88867042 88867919 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430351,nssv1435661 M 31 0 2 "" AK16,NA18566 esv23437 1 88867104 88867896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10970 S 451 0 5 "" NA06985,NA12239,NA18502,NA18523,NA19190 esv269840 1 88888279 88888589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502526,essv2494206,essv2496422,essv2494990,essv2506140,essv2506345,essv2512883,essv2506939,essv2497583,essv2496945 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18502,NA18510,NA18520,NA18523,NA18566,NA18609,NA19102,NA19147,NA19190 nsv508021 1 88895508 88901508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618497,nssv622293,nssv624215 M 4 0 3 "" CHM,NA10860,NA18994 nsv830514 1 88953414 89115101 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447706 S 95 0 1 GTF2B,PKN2 esv272654 1 88991957 88992272 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581886,essv2583219,essv2583967,essv2584631,essv2583742 M 7 5 0 Samples from several populations that are part of the HapMap project. PKN2 NA12878,NA12892,NA19238,NA19239,NA19240 nsv830525 1 89015134 89213918 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447717,nssv1447728 M 95 0 2 CCBL2,GTF2B,PKN2 esv272267 1 89019483 89019844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580828,essv2579012,essv2579718 M 7 3 0 Samples from several populations that are part of the HapMap project. PKN2 NA19238,NA19239,NA19240 esv270672 1 89019655 89019794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511881,essv2496214,essv2493608,essv2513290,essv2495700,essv2501391,essv2506887,essv2506578,essv2498930,essv2511977,essv2501946 M 157 11 0 Samples from several populations that are part of the HapMap project. PKN2 NA18499,NA18511,NA18517,NA18907,NA18916,NA19093,NA19102,NA19108,NA19138,NA19238,NA19239 nsv830537 1 89028655 89178666 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447740 S 95 1 0 CCBL2,GTF2B,PKN2 nsv871171 1 89029966 89079405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499972 S 6533 1 0 PKN2 SP50119 dgv22n27 1 89029966 89133108 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462439,nsv462461,nsv462428 M 1557 3 0 GTF2B,PKN2 HGDP00995,HGDP01003,HGDP01010 nsv462450 1 89037836 89079405 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538610 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PKN2 HGDP01047 nsv462472 1 89123329 89209701 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538627 S 1557 0 1 CCBL2,GTF2B 1780862212_A dgv68e1 1 89184656 89333311 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17801,essv2805,essv17025,essv5514,essv898,essv5558,essv10023,essv15803,essv12245,essv9008,essv20005,essv15263,essv6155,essv3068,essv8170,essv11730,essv16481,essv19389,esv400,essv14320,essv16288,essv13878,essv17166,essv18729,essv18977,essv14717,essv15024,essv24668 M 271 0 0 CCBL2,GBP1,GBP3,RBMXL1 NA07048,NA10831,NA11829,NA11840,NA12005,NA12874,NA18529,NA18532,NA18632,NA18854,NA18981,NA18987,NA19000,NA19094,NA19099,NA19101,NA19129,NA19132,NA19144,NA19154,NA19159,NA19161,NA19171,NA19194,NA19206,NA19210,NA19223 esv7403 1 89227167 89227284 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29844 S 1 1 0 CCBL2,RBMXL1 SJK esv1998863 1 89232018 89232445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984472 S 1 0 1 "" NA18507 nsv10361 1 89248331 89251634 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16101,nssv14736,nssv16092,nssv14758,nssv17748,nssv13421,nssv14426,nssv15106,nssv13432,nssv15093,nssv19084,nssv13087,nssv14424,nssv17760,nssv12425,nssv17429,nssv15767,nssv14402,nssv12775,nssv14761,nssv14408,nssv17744,nssv20423,nssv14750,nssv13437,nssv16753 M 31 26 0 Samples from several populations that are part of the HapMap project. GBP3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819062 1 89248672 89251662 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419497 S 2 1 0 GBP3 AK1 dgv55n67 1 89248781 89251213 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823498,nsv823487,nsv823509 M 31 0 11 GBP3 AK16,AK2,AK20,AK4,NA18526,NA18537,NA18564,NA18566,NA18947,NA18949,NA18951 nsv820541 1 89248781 89251213 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420425 S 1 0 1 GBP3 NA10851 esv22437 1 89249007 89251114 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15180 S 451 37 0 GBP3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33356 1 89285439 89292763 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98676 S 51 0 1 GBP1 21606 nsv526528 1 89319727 89326189 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702841 S 2026 1 0 "" nsv462494 1 89319727 89362144 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538647 S 1557 0 1 GBP2 NINDS_145 nsv523587 1 89323592 89327058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699377 S 2026 0 1 "" nsv871277 1 89323592 89403309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526310 S 6533 0 1 GBP2,GBP7 SP57165 nsv830548 1 89380337 89536868 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447751 S 95 1 0 GBP4,GBP5,GBP7 nsv871785 1 89416232 89594680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550271 S 6533 1 0 GBP4,GBP5 MS18387 nsv508022 1 89448208 89454208 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622294,nssv621472,nssv618498,nssv624216 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv525030 1 89494450 89499180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701071 S 2026 0 1 GBP5 nsv159897 1 89533878 89533937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178475 M 24 "" nsv525147 1 89548821 89551639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701217 S 2026 0 1 "" esv29339 1 89571557 89584796 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14343,esv19397 M 451 30 0 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240 nsv830559 1 89773994 89950109 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447762 S 95 1 0 FLJ27354,LRRC8B,LRRC8C esv26614 1 89794669 89795405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13539 S 451 0 1 LRRC8B NA19099 nsv508023 1 89861162 89867162 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624217 S 4 0 1 FLJ27354 NA18994 esv25406 1 89874796 89875496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11665 S 451 0 1 LRRC8C NA19129 nsv521773 1 89905170 89915816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694540 S 2026 0 1 LRRC8C esv2430347 1 89932682 89934169 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366948 S 1 0 1 LRRC8C NA18507 esv21711 1 89941625 89946753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20234 S 451 0 1 LRRC8C NA18909 nsv1832 1 90127577 90172729 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5725,nssv7352 M 9 0 2 LRRC8D NA12156,NA19129 esv273544 1 90143067 90143207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580131,essv2579935,essv2579177 M 7 3 0 Samples from several populations that are part of the HapMap project. LRRC8D NA12878,NA12892,NA19239 esv267816 1 90143103 90143237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500880,essv2495407,essv2502309,essv2507742,essv2503788,essv2500067,essv2512110,essv2503654,essv2511545 M 157 9 0 Samples from several populations that are part of the HapMap project. LRRC8D NA06986,NA07346,NA11830,NA11919,NA12004,NA12751,NA12761,NA18573,NA19238 nsv1843 1 90218710 90263602 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7358 S 9 0 1 GEMIN8P4,ZNF326 NA12156 nsv528471 1 90246439 90304844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705074 S 2026 0 1 ZNF326 nsv830570 1 90297803 90458114 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447773,nssv1447784 M 95 2 0 "" nsv462506 1 90306636 90328738 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538654 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 esv1347608 1 90314072 90314072 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635618 S 2 1 0 "" HuRef esv1590548 1 90422013 90422013 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211785 S 2 1 0 "" HuRef esv1416558 1 90432907 90432907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962338 S 2 1 0 "" HuRef nsv524317 1 90502332 90609327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700219 S 2026 1 0 "" nsv521123 1 90543154 90609327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697801 S 2026 1 0 "" nsv870546 1 90556028 90589167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518818 S 6533 1 0 "" SP58215 dgv69e1 1 90592580 90755887 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11089,essv687,essv8860,essv10460,essv1493,essv8452,essv3009,essv9678,essv20080,esv449,essv11978,essv23551,essv21000,essv4179,essv21552,essv5565,essv8747,essv10936,essv4878,essv14605,essv15217,essv4691,essv18419,essv10575,essv24681,essv16105,essv6250,essv18431,essv13766,essv23223,essv6567,essv15784,essv15145,essv21329,essv10143,essv52,essv7592,essv24073,essv15848,essv14885,essv18955,essv585,essv20273,essv1349,essv8618,essv14273,essv12477,essv10212,essv8152,essv16520,essv1949,essv10367,essv4601,essv19257,essv11706,essv5024,essv17282,essv11591,essv6979,essv4730,essv11843,essv23893,essv13034,essv7410,essv24895,essv16351,essv7329,essv15697,essv17119,essv7836,essv5940,essv2080,essv6957,essv24885,essv21702,essv23500,essv12388,essv1627,essv17512,essv20583,essv23134,essv12169,essv16007,essv769,essv2178,essv11019,essv1112,essv3187,essv11937,essv9433,essv24247,essv7195,essv22966,essv20348,essv19754,essv3129,essv24983,essv10348,essv360 M 271 0 0 "" NA06991,NA06993,NA06994,NA07000,NA07029,NA07034,NA07048,NA07056,NA07357,NA10835,NA10838,NA10839,NA10856,NA10859,NA11829,NA11831,NA12005,NA12144,NA12236,NA12248,NA12249,NA12762,NA12814,NA12873,NA12878,NA12891,NA18501,NA18502,NA18506,NA18508,NA18515,NA18516,NA18517,NA18522,NA18524,NA18526,NA18529,NA18545,NA18547,NA18550,NA18558,NA18561,NA18570,NA18576,NA18582,NA18612,NA18620,NA18621,NA18622,NA18623,NA18636,NA18856,NA18859,NA18912,NA18913,NA18942,NA18949,NA18956,NA18959,NA18960,NA18964,NA18969,NA18971,NA18974,NA18975,NA18980,NA18981,NA18991,NA18998,NA19007,NA19092,NA19093,NA19094,NA19100,NA19101,NA19129,NA19130,NA19131,NA19143,NA19152,NA19153,NA19154,NA19171,NA19173,NA19193,NA19194,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239,NA19240 nsv428124 1 90592580 90755887 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450598,nssv450564,nssv450542,nssv450587,nssv450553,nssv450576,nssv450531 M 62 7 0 "" HGDP00449,HGDP01093,HGDP01094,NA18916,NA19113,NA19147,NA19181 esv1566075 1 90616913 90616913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675572 S 2 1 0 "" HuRef esv1968809 1 90630770 90631244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4761222 S 1 0 1 "" NA18507 esv271531 1 90687055 90688743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509824,essv2496430,essv2501202,essv2506231,essv2508718,essv2497311,essv2512966,essv2500021,essv2508230,essv2499913,essv2504571,essv2507813,essv2500640,essv2500116,essv2507652,essv2512681,essv2508117,essv2509996,essv2496125,essv2499258,essv2512901,essv2505316,essv2507094,essv2509137,essv2511642,essv2504886,essv2503085,essv2503464,essv2502471,essv2512351,essv2493135,essv2500496,essv2503691,essv2496024,essv2495177,essv2502673,essv2500788,essv2512788,essv2505668,essv2501352,essv2504630,essv2498945,essv2502133,essv2495740 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA18508,NA18510,NA18516,NA18523,NA18532,NA18545,NA18547,NA18558,NA18561,NA18562,NA18563,NA18564,NA18571,NA18573,NA18576,NA18577,NA18579,NA18593,NA18603,NA18605,NA18609,NA18853,NA18870,NA18909,NA18940,NA18942,NA18943,NA18947,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19114,NA19257 nsv870816 1 90790793 90913784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585456 S 6533 0 1 "" IS37467 dgv8n21 1 90876473 90880886 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526338,nsv520091 M 2026 0 2 "" nsv522034 1 90880569 90883599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694804 S 2026 0 1 "" esv2376491 1 90905109 90905564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722668 S 1 0 1 "" NA18507 nsv506944 1 90910947 90916947 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619242,nssv623277 M 4 2 0 "" NA10860,NA18994 nsv508024 1 90998556 91004556 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621473 S 4 0 1 "" NA15510 nsv159370 1 91208825 91215100 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177948 M 24 ZNF644 nsv506945 1 91304184 91310184 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619243 S 4 1 0 "" NA10860 esv2629414 1 91396425 91398037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281218 S 1 0 1 "" NA18507 esv2244606 1 91397174 91397853 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608664 S 1 0 1 "" NA18507 esv3593 1 91397323 91397849 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26034 S 1 0 1 Single Asian sample YH "" YH esv6992 1 91397367 91397634 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29433 S 1 0 1 "" SJK esv1206038 1 91397375 91397658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957492 S 2 0 1 "" HuRef esv2540009 1 91470595 91471846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291173 S 1 0 1 "" NA18507 esv5793 1 91509665 91509722 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28234 S 1 1 0 HFM1 SJK nsv871685 1 91547046 91621807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568089 S 6533 0 1 HFM1 IS31205 nsv437904 1 91563464 91573795 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467742,nssv471634 M 269 0 2 Samples from several populations that are part of the HapMap project. HFM1 NA07000,NA07029 nsv519110 1 91566836 91573534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696586 S 2026 0 1 HFM1 esv3976 1 91686630 91687270 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26417 S 1 0 1 Single Asian sample YH "" YH esv1004784 1 91686683 91687137 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580538 S 3 0 1 "" HuRef esv1066125 1 91686683 91687138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362600 S 2 0 1 "" HuRef esv6603 1 91686685 91687142 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29044 S 1 0 1 "" SJK esv267416 1 91711486 91711715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508024,essv2505296 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA18853 esv2452061 1 91741094 91742558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197666 S 1 0 1 CDC7 NA18507 nsv513637 1 91901164 91905197 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626889 S 1 0 0 "" 1 nsv513638 1 91904374 91908304 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626890 S 1 0 0 "" 1 nsv821208 1 91906517 91907556 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420436 S 1 0 1 "" NA10851 esv2649223 1 91906524 91908255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207434 S 1 0 1 "" NA18507 esv28546 1 91906701 91907556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13624 S 451 0 13 "" NA11894,NA11931,NA12004,NA12156,NA12489,NA12878,NA18505,NA18508,NA18858,NA18907,NA18909,NA19114,NA19240 esv1960868 1 91906713 91907580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865496 S 1 0 1 "" NA18507 esv988019 1 91906816 91907536 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586761 S 3 0 1 "" HuRef esv1589048 1 91906929 91907541 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248887 S 2 0 1 "" HuRef nsv528991 1 91964122 91970750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705693 S 2026 0 1 TGFBR3 nsv462517 1 91988313 92371293 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538662 S 1557 1 0 BRDT,BTBD8,EPHX4,TGFBR3 1780862574_A nsv524845 1 91988313 92371293 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700847 S 2026 1 0 BRDT,BTBD8,EPHX4,TGFBR3 esv988308 1 92000498 92009523 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563805 S 3 0 1 TGFBR3 HuRef esv989733 1 92004651 92005922 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582040 S 3 0 1 TGFBR3 HuRef esv25877 1 92004671 92006010 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16892 S 451 0 22 TGFBR3 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18909,NA19099,NA19108,NA19257 nsv823520 1 92005070 92005913 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424747,nssv1424164,nssv1430354,nssv1421458,nssv1431082 M 31 0 5 TGFBR3 AK16,AK18,AK2,NA18947,NA18997 nsv525320 1 92008636 92010755 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701430 S 2026 0 1 TGFBR3 nsv519291 1 92013273 92021283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655226,nssv689194 M 2026 0 2 TGFBR3 nsv830581 1 92089795 92283763 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447795 S 95 0 1 BRDT,EPHX4,TGFBR3 dgv264n71 1 92113272 92414195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871415,nsv871144 M 6533 2 0 BRDT,BTBD8,EPHX4,KIAA1107,TGFBR3 IS33403,IS33590 esv2750842 1 92129369 92352263 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982715,essv6988574,essv6988573,essv6986250,essv6982716 M 771 1 0 BRDT,BTBD8,EPHX4,TGFBR3 BEC_583 nsv871606 1 92216713 92310692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512714 S 6533 0 1 BRDT,EPHX4 SP55597 nsv871508 1 92250718 92554167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571422 S 6533 1 0 BRDT,BTBD8,C1orf146,EPHX4,GLMN,KIAA1107,RPAP2 IS32732 nsv1855 1 92283399 92313921 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1257 S 9 1 0 EPHX4 NA19240 dgv265n71 1 92340851 92380585 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870471,nsv871948 M 6533 0 2 BTBD8 SP51226,SP54561 nsv441700 1 92351832 92357103 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BTBD8 nsv823531 1 92377578 92378092 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431822 S 31 1 0 BTBD8 AK20 nsv830592 1 92441870 92578217 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447806,nssv1447817,nssv1447828 M 95 3 0 C1orf146,GLMN,RPAP2 esv259509 1 92451484 92451746 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394165 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1158594 1 92451656 92451656 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334392 S 2 1 0 "" HuRef esv2133890 1 92453758 92454172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790795 S 1 0 1 "" NA18507 nsv159130 1 92453942 92453993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177708 M 24 "" nsv870667 1 92469776 92586329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517956 S 6533 0 1 C1orf146,GLMN,RPAP2 SP57418 nsv518196 1 92490254 92499728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695620 S 2026 0 1 GLMN dgv266n71 1 92533715 92586329 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871352,nsv871387,nsv870854 M 6533 0 4 GLMN,RPAP2 SP50649,SP54579,SP55683,SP55878 nsv523354 1 92703851 92837411 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699103 S 2026 1 0 EVI5,GFI1 esv2513593 1 92709429 92710830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342980 S 1 0 1 "" NA18507 nsv830603 1 92776245 92944794 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447839 S 95 0 1 EVI5 esv2533438 1 92939497 92940395 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206076 S 1 1 0 EVI5 NA18507 esv269509 1 92940082 92940436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514594,essv2516761,essv2517447,essv2516965,essv2514038,essv2518784,essv2514816,essv2518442,essv2515001,essv2516619,essv2515590,essv2516044,essv2517685,essv2516269,essv2516915,essv2517373,essv2519069,essv2514001,essv2515261,essv2518921,essv2518318,essv2513587 M 157 22 0 Samples from several populations that are part of the HapMap project. EVI5 NA07347,NA11840,NA11881,NA11918,NA11931,NA12043,NA12045,NA12234,NA12287,NA12812,NA12814,NA12815,NA12873,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv274271 1 92940089 92940431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582226,essv2582510,essv2582882,essv2583958,essv2584641,essv2583534 M 7 6 0 Samples from several populations that are part of the HapMap project. EVI5 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1001160 1 92940106 92940106 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571023 S 3 1 0 EVI5 HuRef esv1233172 1 92940108 92940108 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322889 S 2 1 0 EVI5 HuRef nsv159896 1 92940119 92940119 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178474 M 24 EVI5 nsv871263 1 92968861 93020816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517399 S 6533 0 1 EVI5 SP57270 esv1938423 1 93008511 93014093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656585 S 1 0 1 EVI5 NA18507 nsv508393 1 93063101 93117512 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620136 S 4 0 1 FAM69A,RPL5,SNORA66,SNORD21 NA15510 nsv511706 1 93063665 93066984 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626347 S 1 0 1 "" 1 nsv506946 1 93091036 93097036 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619244 S 4 1 0 FAM69A NA10860 nsv830614 1 93238566 93451288 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447851 S 95 0 1 CCDC18,MTF2,TMED5 nsv870775 1 93254228 93315707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553064 S 6533 0 1 "" MS19721 esv2542620 1 93270480 93271435 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272248 S 1 1 0 "" NA18507 esv269239 1 93270782 93271121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565630,essv2575925,essv2540947,essv2571752,essv2546395,essv2521064,essv2525965,essv2542256,essv2536616,essv2522838,essv2544113,essv2570885,essv2556490,essv2568171,essv2545592,essv2523270,essv2531696,essv2577490,essv2570638,essv2548594,essv2521878,essv2576525,essv2525479,essv2534965,essv2554138,essv2544259,essv2552186,essv2520555,essv2547254,essv2529084,essv2558315,essv2564761,essv2578049,essv2553837,essv2559531,essv2565244,essv2576406,essv2519950,essv2555077,essv2530768,essv2561952,essv2537441,essv2528387,essv2546667,essv2520807,essv2557454,essv2556823,essv2552471,essv2551766,essv2532280,essv2562628,essv2569355,essv2578535,essv2550160,essv2558731,essv2537067,essv2538881,essv2569831,essv2527353,essv2561715,essv2544928,essv2562893,essv2523680,essv2553044,essv2540280,essv2524390,essv2565174,essv2534806,essv2561261,essv2539868,essv2549316,essv2519594,essv2560158,essv2521992,essv2566292,essv2531264,essv2567802,essv2528755,essv2541553,essv2570202,essv2563594,essv2553407,essv2535635,essv2572395,essv2559315,essv2566835,essv2542104,essv2551047,essv2568906,essv2543562,essv2556404,essv2528029,essv2562296,essv2539391,essv2533913,essv2578201,essv2572937,essv2555329,essv2533698,essv2555498,essv2566546,essv2529906,essv2574010,essv2527603,essv2557651,essv2555904,essv2531303,essv2573339,essv2577038,essv2572106,essv2525761,essv2526967,essv2529636,essv2575781,essv2575366,essv2538840,essv2526638,essv2560598,essv2524243,essv2574801,essv2572760,essv2568738,essv2545073,essv2549790,essv2571323,essv2545896,essv2574204,essv2551244,essv2536361,essv2538057,essv2548673,essv2533269,essv2554344,essv2547628,essv2524771,essv2563502,essv2557924 M 157 137 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv274500 1 93270783 93271120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582139,essv2582454,essv2582875,essv2584315,essv2584466,essv2583574 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1420154 1 93270814 93270814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713897 S 2 1 0 "" HuRef nsv508404 1 93319971 93352600 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620137 S 4 0 1 MTF2 NA15510 nsv1866 1 93333518 93365481 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10116 S 9 1 0 MTF2 NA18956 nsv830625 1 93338966 93507834 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447862,nssv1447873 M 95 0 2 CCDC18,MTF2,TMED5 nsv523951 1 93566439 93567751 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699799 S 2026 1 0 LOC100131564 nsv871640 1 93579710 93726057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581811 S 6533 0 1 DR1,FNBP1L,LOC100131564 IS35742 esv8503 1 93971792 93971869 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30944 S 1 1 0 "" SJK esv27510 1 93985447 93986230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10207 S 451 0 1 "" NA18858 nsv1877 1 94020344 94065496 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4403 S 9 0 1 "" NA12878 esv2442893 1 94022793 94024382 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168512 S 1 0 1 "" NA18507 esv2062392 1 94023845 94024549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994824 S 1 0 1 "" NA18507 esv2595696 1 94024047 94024359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375463 S 1 0 1 "" NA18507 nsv160444 1 94024056 94024368 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179022 M 24 "" nsv508415 1 94028710 94077927 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618980 S 4 0 1 "" NA10860 esv1005153 1 94054293 94055950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565354 S 3 0 1 "" HuRef esv1003322 1 94058373 94067108 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564045 S 3 0 1 "" HuRef esv27447 1 94060875 94063950 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13802 S 451 25 4 "" NA07037,NA07045,NA11931,NA12004,NA12006,NA12044,NA12414,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv56n67 1 94060875 94064172 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823542,nsv823575,nsv823553,nsv823564 M 31 0 23 "" AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18951,NA18968,NA18997,NA18999 nsv821520 1 94060875 94064172 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420447 S 1 0 1 "" NA10851 esv5334 1 94060904 94063940 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27775 S 1 0 1 Single Asian sample YH "" YH dgv4e180 1 94060915 94063825 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994079,esv988321 M 3 0 1 "" HuRef esv33739 1 94060932 94063617 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101590,essv101430,essv98762,essv97476,essv100724,essv94775,essv94359,essv95703,essv95718,essv101663,essv97267,essv98580,essv93261,essv98073,essv100334,essv98493 M 51 9 6 "" 21603,21606,21616,21656,21791,21808,21841,21909,22075,22085,22170,22259,22300,22352 esv1011314 1 94060961 94063844 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578967 S 3 0 1 "" HuRef esv1112742 1 94060963 94063847 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749755 S 2 0 1 "" HuRef esv8088 1 94060966 94063850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30529 S 1 0 1 "" SJK esv33428 1 94076771 94076982 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99503 S 51 0 1 "" 22335 esv998151 1 94114256 94115699 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565342 S 3 1 0 DNTTIP2 HuRef nsv523355 1 94123916 94158179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699104 S 2026 0 1 GCLM esv269350 1 94147036 94147121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516522 S 157 1 0 Samples from several populations that are part of the HapMap project. GCLM NA12814 nsv516137 1 94176826 94277133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701005,nssv667306,nssv666445 M 2026 0 3 ABCA4 esv25414 1 94218459 94219162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11096 S 451 0 1 "" NA18511 nsv871172 1 94277133 94308134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597950 S 6533 1 0 ABCA4 IS41041 nsv871057 1 94285730 94349874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593806 S 6533 1 0 ABCA4 IS39522 dgv267n71 1 94316864 94350332 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871558,nsv870555 M 6533 2 0 ABCA4 IS34769,IS41041 dgv268n71 1 94338899 94407616 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871416,nsv871210 M 6533 0 3 ABCA4,ARHGAP29 IS34572,IS37639,MS22353 dgv269n71 1 94351641 94382066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871306,nsv871502,nsv870932 M 6533 0 3 ABCA4 IS36640,MS22146,MS22765 nsv871679 1 94352014 94371156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555236 S 6533 0 1 ABCA4 MS21249 nsv523430 1 94354837 94364069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699185 S 2026 0 1 ABCA4 nsv1888 1 94465557 94497544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10121 S 9 1 0 ARHGAP29 NA18956 nsv506947 1 94471906 94477906 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619245,nssv620663,nssv617534,nssv623278 M 4 4 0 ARHGAP29 CHM,NA10860,NA15510,NA18994 nsv160026 1 94533854 94533854 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178604 M 24 "" esv2040800 1 94622427 94622859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881615 S 1 0 1 "" NA18507 nsv871097 1 94623031 94714478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526311 S 6533 0 1 ABCD3 SP57165 nsv506948 1 94641199 94647199 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623279,nssv617535 M 4 2 0 "" CHM,NA18994 nsv871764 1 94689990 94776672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519637 S 6533 0 1 ABCD3,F3 SP50101 esv1930968 1 94715645 94716097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629526 S 1 0 1 ABCD3 NA18507 esv3120 1 94715766 94715990 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25561 S 1 0 1 Single Asian sample YH ABCD3 YH nsv1899 1 94772965 94802346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5731 S 9 1 0 F3 NA19129 dgv270n71 1 94777808 94856424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871391,nsv870696 M 6533 0 2 F3 IS35605,IS40890 nsv871279 1 94801569 94856424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557407 S 6533 0 1 "" MS22662 nsv519997 1 94856424 94886005 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682195,nssv660008 M 2026 2 0 "" nsv1910 1 94872971 94884460 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7369 S 9 0 1 "" NA12156 dgv70e1 1 94892378 94931191 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv923,essv8544 M 271 0 0 "" NA18503 nsv462528 1 94895106 94915431 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538669 S 1557 0 1 "" NINDS_196 nsv437227 1 94895153 94916136 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467108 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18503 nsv517330 1 94901134 94925850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682512,nssv673773,nssv667439,nssv689057,nssv676921,nssv663391,nssv671038,nssv665818,nssv659108,nssv676310,nssv676041,nssv674073,nssv690090,nssv652159,nssv651765,nssv668801,nssv653383,nssv683852,nssv688252,nssv687433,nssv674890,nssv693954,nssv684295,nssv679707,nssv692602,nssv689497,nssv679672,nssv651736,nssv686522,nssv682479,nssv669860 M 2026 0 31 "" nsv871001 1 94901134 94944479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585722 S 6533 0 1 "" IS37639 nsv436535 1 94901379 94927828 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466162 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2421913 1 94903266 94926867 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091332,essv5116224,essv5126136,essv5135292,essv5105619,essv5160942,essv5048309,essv5132299,essv5040433,essv5111271,essv5030523,essv5093302,essv5010555,essv5107250,essv5029954,essv5067255,essv5021609,essv5055537,essv5116417,essv5136635,essv5100660,essv5007392 M 1184 0 22 "" NA18487,NA18498,NA18503,NA18505,NA18855,NA18916,NA18923,NA19107,NA19109,NA19142,NA19153,NA19175,NA19390,NA19393,NA19398,NA19434,NA20317,NA20360,NA21414,NA21491,NA21620,NA21741 nsv442927 1 94903354 94927987 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470726 1 94904517 94925850 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547754,nssv547753,nssv547752,nssv547755 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00921,HGDP00924,HGDP00939,HGDP01031 nsv818267 1 94904517 94925850 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418359,nssv1418370,nssv1416292 M 112 0 3 "" NA18855,NA19141,NA19142 dgv23n27 1 94904517 94926867 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462561,nsv462550,nsv462539 M 1557 0 3 "" HGDP00924,HGDP00939,HGDP01031 nsv513993 1 94905120 94927544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627352 S 1414 0 1 "" esv34973 1 94906767 94924401 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987871,essv6989206 M 771 0 1 "" NA19141 dgv71e1 1 94906770 94931191 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15969,essv17390,essv8251,essv12006 M 271 0 0 "" NA18855,NA19141,NA19142,NA19153 esv28208 1 94907386 94928588 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12694 S 451 0 2 "" NA18505,NA18916 nsv437915 1 94910672 94925850 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467786,nssv467775,nssv467808,nssv467764,nssv467753,nssv467797 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505,NA19141,NA19142 nsv871916 1 94916587 94961818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579168 S 6533 0 1 "" IS35028 nsv437229 1 94919152 94925850 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467110 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 nsv437228 1 94919152 94937024 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467109 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18503 nsv10372 1 94929786 94931628 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12755,nssv15439,nssv15110,nssv18074,nssv19414,nssv14756,nssv15121,nssv16097 M 31 8 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA18517,NA18563,NA18572,NA18853,NA19007,NA19240 nsv506949 1 95070655 95076655 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619246 S 4 1 0 SLC44A3 NA10860 esv267890 1 95107793 95107878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515524 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC44A3 NA12249 esv272153 1 95115256 95115348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521183,essv2542605,essv2544118,essv2556619,essv2568158,essv2545661,essv2570353,essv2544230,essv2552124,essv2547526,essv2559606,essv2520010,essv2541384,essv2538217,essv2564926,essv2539581,essv2522169,essv2566044,essv2567514,essv2563697,essv2535530,essv2572530,essv2578217,essv2555223,essv2566670,essv2573298,essv2577077,essv2571902,essv2547765 M 157 29 0 Samples from several populations that are part of the HapMap project. SLC44A3 NA07347,NA11894,NA11919,NA11992,NA11994,NA11995,NA12003,NA12044,NA12414,NA12489,NA12717,NA12776,NA12815,NA18545,NA18547,NA18558,NA18563,NA18571,NA18572,NA18582,NA18603,NA18608,NA18609,NA18940,NA18943,NA18948,NA18969,NA18970,NA18973 nsv830636 1 95268437 95475714 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447884,nssv1447895,nssv1447906 M 95 0 3 ALG14,RWDD3,TMEM56,TMEM56-RWDD3 esv993631 1 95284029 95284029 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583009 S 3 1 0 ALG14 HuRef esv1116942 1 95284124 95284124 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946796 S 2 1 0 ALG14 HuRef esv5799 1 95294842 95298531 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28240 S 1 0 1 ALG14 SJK nsv498675 1 95294847 95298528 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585387 S 9 0 1 ALG14 dgv57n67 1 95295609 95298495 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823598,nsv823587 M 31 0 9 ALG14 AK4,AK8,NA18537,NA18547,NA18592,NA18942,NA18972,NA18973,NA18999 nsv513994 1 95295808 95298528 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627463 S 1414 0 1 ALG14 nsv823609 1 95355206 95356335 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431824 S 31 0 1 TMEM56,TMEM56-RWDD3 AK20 nsv870669 1 95359361 95462857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523738 S 6533 0 1 TMEM56,TMEM56-RWDD3 SP54177 esv2641534 1 95462611 95464265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282920 S 1 0 1 TMEM56-RWDD3 NA18507 esv2291039 1 95462944 95463563 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780076 S 1 0 1 TMEM56-RWDD3 NA18507 esv4625 1 95463045 95463609 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27066 S 1 0 1 Single Asian sample YH TMEM56-RWDD3 YH nsv160810 1 95463099 95463417 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179388 M 24 TMEM56-RWDD3 nsv823620 1 95485314 95485776 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424749 S 31 1 0 RWDD3 AK2 nsv10384 1 95525331 95539837 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18090 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv830648 1 95532750 95698852 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447917 S 95 1 0 "" nsv529002 1 95553805 95577590 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705709 S 2026 1 0 "" nsv1921 1 95563395 95593001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6770 S 9 1 0 "" NA12156 esv272046 1 95574411 95574496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514686,essv2519274,essv2514845,essv2514931 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA12234,NA12812 nsv1932 1 95821976 95852980 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10136 S 9 1 0 "" NA18956 nsv528711 1 95860780 95912608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705361 S 2026 0 1 "" nsv524690 1 95912608 95916021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700662 S 2026 0 1 "" nsv520561 1 95926933 95927332 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672546,nssv682567 M 2026 0 2 "" nsv1943 1 95963139 95995350 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10141 S 9 1 0 "" NA18956 esv2422262 1 96033916 96165291 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161551 S 181 1 0 "" ND03704 nsv517226 1 96069014 96078021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687390,nssv663535,nssv669918,nssv676841,nssv652160,nssv656771,nssv671039,nssv654067,nssv685283 M 2026 0 9 "" nsv830659 1 96167308 96321508 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447928 S 95 1 0 "" esv270784 1 96176315 96176667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511835,essv2494243,essv2502928,essv2509778,essv2494950,essv2506094,essv2507259,essv2494040,essv2501502,essv2510842,essv2499743 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18502,NA18507,NA18508,NA18520,NA18523,NA18870,NA18871,NA19093,NA19116,NA19225 dgv72e1 1 96188339 96318702 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4921,esv82 M 271 0 0 "" NA18561 esv2625541 1 96218596 96219615 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247375 S 1 1 0 "" NA18507 esv1921051 1 96255510 96255931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923634 S 1 0 1 "" NA18507 nsv159649 1 96255669 96255752 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178227 M 24 "" esv1671934 1 96255714 96255796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314688 S 2 0 1 "" HuRef nsv160662 1 96255788 96255847 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179240 M 24 "" nsv10395 1 96258416 96261328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18450 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv273697 1 96272828 96273018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580533,essv2578875 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv32612 1 96297173 96303501 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94337,essv100304 M 51 2 0 "" 21808,22300 nsv830670 1 96313768 96498068 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447939 S 95 1 0 "" esv1162130 1 96503844 96503844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259117 S 2 1 0 "" HuRef esv1563982 1 96504023 96504023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271679 S 2 1 0 "" HuRef nsv870970 1 96536113 96654919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600389 S 6533 0 1 "" IS41877 nsv871820 1 96601142 96696685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556675 S 6533 0 1 "" MS22109 nsv428135 1 96611970 96626934 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450609 S 62 1 0 "" NA19113 esv1451799 1 96641529 96641529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720085 S 2 1 0 "" HuRef esv1958733 1 96762259 96762693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733837 S 1 0 1 "" NA18507 nsv1954 1 96855710 96900674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7383 S 9 0 1 "" NA12156 nsv830681 1 96938374 97110652 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447950,nssv1447962 M 95 0 2 PTBP2 esv2540979 1 97041183 97042182 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347653 S 1 1 0 PTBP2 NA18507 esv271046 1 97041677 97041780 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504291,essv2502940,essv2513432,essv2506748 M 157 4 0 Samples from several populations that are part of the HapMap project. PTBP2 NA18505,NA18507,NA18907,NA19108 nsv1966 1 97060429 97105088 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7392 S 9 0 1 "" NA12156 nsv870494 1 97106807 97212079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584014 S 6533 0 1 "" IS36787 nsv522619 1 97213485 97219771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706015 S 2026 0 1 "" nsv1977 1 97222772 97247205 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10147 S 9 1 0 "" NA18956 nsv830692 1 97274080 97397741 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447973,nssv1447984 M 95 1 1 DPYD esv7816 1 97283673 97284202 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30257 S 1 0 0 "" SJK esv2523572 1 97368502 97369895 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348872 S 1 0 1 DPYD NA18507 esv2167618 1 97368752 97369166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994144 S 1 0 1 DPYD NA18507 nsv470728 1 97475913 97534560 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547757 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPYD HGDP01397 esv271356 1 97490197 97490519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546627,essv2525829,essv2542396,essv2522708,essv2531909,essv2548173,essv2529170,essv2540065,essv2569250,essv2556286 M 157 10 0 Samples from several populations that are part of the HapMap project. DPYD NA11881,NA11918,NA11919,NA11931,NA12006,NA12045,NA12749,NA18489,NA18508,NA18871 nsv871536 1 97516636 97544535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551263 S 6533 0 1 DPYD MS18847 nsv1988 1 97531295 97561135 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10150 S 9 1 0 DPYD NA18956 nsv871806 1 97628195 97657788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539237 S 6533 0 1 DPYD MS14268 nsv870572 1 97634825 97648960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509126 S 6533 0 1 DPYD SP54753 nsv830703 1 97680296 97873732 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448039,nssv1447995,nssv1448006,nssv1448017,nssv1448028 M 95 2 3 DPYD nsv519191 1 97717880 97773449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696674 S 2026 0 1 DPYD nsv871449 1 97722622 97751905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554734 S 6533 0 1 DPYD MS20957 nsv1999 1 97752143 97780408 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10951 S 9 1 0 DPYD NA15510 nsv160842 1 97763944 97764122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179420 M 24 DPYD nsv871708 1 97776496 97829163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586756 S 6533 0 1 DPYD IS37974 nsv830714 1 97797678 98002004 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448050 S 95 1 0 DPYD nsv528034 1 97810767 97814308 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704566 S 2026 1 0 DPYD dgv9n21 1 97810767 97823244 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518604,nsv521057 M 2026 3 0 DPYD esv268955 1 97831527 97831914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510654,essv2501199 M 157 2 0 Samples from several populations that are part of the HapMap project. DPYD NA18501,NA18516 nsv2010 1 97895704 97940014 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2217 S 9 0 1 DPYD NA18555 dgv271n71 1 97937679 98137898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871472,nsv871651,nsv871740,nsv870596,nsv871050 M 6533 0 14 DPYD IS30409,IS31338,IS32891,IS33747,IS35227,IS36533,IS37974,IS38403,IS39464,IS39516,IS41956,MS18847,MS18978,MS23531 nsv871625 1 97937679 98337324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554580 S 6533 0 1 DPYD,MIR137,MIR2682 MS20872 esv8104 1 97995295 97995367 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30545 S 1 1 0 DPYD SJK nsv830725 1 98030482 98216085 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448061 S 95 0 1 DPYD dgv272n71 1 98046720 98137898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871376,nsv871224,nsv870944 M 6533 0 13 DPYD IS30147,IS30196,IS30311,IS30378,IS34382,IS34896,IS37467,IS41788,IS41894,IS41909,IS41964,IS41991,MS15841 nsv871077 1 98046720 98314265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581349 S 6533 0 1 DPYD,MIR137,MIR2682 IS35572 nsv462572 1 98056442 98120363 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538705 S 1557 0 1 DPYD NINDS_199 nsv2021 1 98074235 98108111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3004 S 9 1 0 DPYD NA18555 nsv2032 1 98092439 98141873 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9547 S 9 0 1 DPYD NA18507 nsv870727 1 98094967 98137898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600794,nssv1579169,nssv1581629 M 6533 0 3 DPYD IS35028,IS35675,IS41926 nsv871230 1 98208820 98337324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551697 S 6533 0 1 MIR137,MIR2682 MS18978 nsv470729 1 98234031 98337324 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547758 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR137,MIR2682 HGDP00876 nsv830736 1 98261079 98436314 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448073 S 95 1 0 MIR137,MIR2682 nsv819568 1 98282476 98284000 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419278 S 2 1 0 MIR2682 AK1 nsv436623 1 98326518 98333214 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466173 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv823631 1 98326845 98460573 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440821 S 31 0 1 "" NA18969 nsv525582 1 98365218 98368441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701721 S 2026 0 1 "" nsv524846 1 98365218 98371040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700848 S 2026 0 1 "" dgv10n21 1 98365218 98378001 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523942,nsv524889 M 2026 2 0 "" esv2462473 1 98377213 98378274 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183775 S 1 1 0 "" NA18507 esv272246 1 98377844 98378203 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580939 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267921 1 98377852 98378192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540902,essv2546565,essv2526056,essv2542565,essv2536659,essv2544128,essv2577594,essv2570555,essv2521822,essv2525453,essv2553971,essv2578092,essv2553606,essv2539932,essv2557209,essv2552682,essv2532368,essv2569585,essv2550244,essv2537177,essv2539050,essv2569802,essv2561389,essv2563052,essv2523904,essv2538454,essv2540610,essv2524450,essv2561244,essv2549454,essv2559778,essv2566121,essv2531016,essv2568032,essv2567419,essv2541565,essv2569970,essv2535632,essv2572452,essv2559177,essv2566829,essv2568844,essv2562505,essv2567058,essv2566614,essv2573796,essv2557768,essv2522520,essv2531493,essv2543133,essv2575278,essv2538808,essv2526447,essv2560741,essv2524251,essv2574739,essv2530418,essv2572810,essv2568767,essv2549677,essv2571116,essv2545720,essv2536013,essv2537965,essv2524941 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA11831,NA11881,NA11918,NA11919,NA11920,NA11992,NA12043,NA12044,NA12144,NA12156,NA12287,NA12761,NA12763,NA18489,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18519,NA18520,NA18523,NA18532,NA18537,NA18547,NA18552,NA18555,NA18562,NA18564,NA18570,NA18572,NA18573,NA18577,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18861,NA18909,NA18947,NA18948,NA18951,NA18953,NA18960,NA18961,NA18965,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19225,NA19238,NA19239 nsv870541 1 98461980 98569097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564113 S 6533 0 1 "" IS30171 nsv871969 1 98484882 98547471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552898 S 6533 1 0 "" MS19637 nsv2043 1 98544285 98578621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3009 S 9 1 0 "" NA18555 nsv2054 1 98653540 98654684 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4420 S 9 1 0 "" NA12878 nsv871854 1 98734519 98778752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513906 S 6533 0 1 "" SP55878 esv1593722 1 98741714 98741714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931191 S 2 1 0 "" HuRef esv1639972 1 98741735 98741735 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282738 S 2 1 0 "" HuRef esv1655934 1 98750647 98750647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945568 S 2 1 0 "" HuRef esv1030578 1 98751181 98751181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056629 S 2 1 0 "" HuRef nsv830747 1 98755688 98921000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448084 S 95 0 1 SNX7 nsv830760 1 98968667 99137140 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448095 S 95 1 0 LPPR5,SNX7 nsv2065 1 98991191 99035881 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7398 S 9 0 1 SNX7 NA12156 dgv273n71 1 99107260 99196212 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871488,nsv871011 M 6533 0 2 LPPR5 IS34440,MS19303 nsv830771 1 99116109 99288114 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448106 S 95 0 1 LOC100129620,LPPR5 esv26224 1 99177456 99179919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14053 S 451 0 1 LPPR5 NA12489 esv33622 1 99177620 99178163 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99404 S 51 0 1 LPPR5 22335 nsv830782 1 99299273 99454277 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448117,nssv1448128 M 95 0 2 LOC100129620 nsv462605 1 99302746 99321934 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538725 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100129620 HGDP00749 nsv2077 1 99313072 99331276 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4429 S 9 1 0 LOC100129620 NA12878 nsv870613 1 99315198 99374197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572290 S 6533 1 0 LOC100129620 IS32918 esv274508 1 99444665 99444980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584056,essv2584623,essv2583295 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv273111 1 99470999 99471112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580989 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268969 1 99471011 99471125 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509906,essv2493761,essv2494777,essv2499117,essv2499734,essv2501873,essv2498046 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18517,NA18519,NA19114,NA19225,NA19239,NA19240 nsv506950 1 99535647 99541647 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623280,nssv620664 M 4 2 0 LPPR4 NA15510,NA18994 nsv2088 1 99563886 99609093 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7408 S 9 0 1 "" NA12156 esv22216 1 99629113 99637922 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10416 S 451 0 1 "" NA18511 esv27224 1 99663419 99664325 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12749 S 451 0 5 "" NA18505,NA18861,NA19114,NA19129,NA19225 esv268304 1 99666986 99667332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496531,essv2494844,essv2509325,essv2498850,essv2501853,essv2498039 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18519,NA18909,NA19138,NA19239,NA19240 esv274556 1 99667104 99667301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584545,essv2583412 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1946413 1 99684437 99685018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747980 S 1 0 1 "" NA18507 esv987632 1 99737750 99737750 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582037 S 3 1 0 "" HuRef esv1759523 1 99737751 99737751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264607 S 2 1 0 "" HuRef esv1217706 1 99748662 99748726 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288674 S 2 0 1 "" HuRef nsv2099 1 99753744 99770716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4439 S 9 1 0 "" NA12878 nsv830793 1 99768413 99937227 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448139,nssv1448161,nssv1448185,nssv1448196,nssv1448172,nssv1448150 M 95 0 6 PALMD nsv2110 1 99800404 99845465 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7417 S 9 0 1 "" NA12156 nsv509391 1 99904688 99946253 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623788 S 4 1 0 PALMD NA18994 esv2491678 1 99921201 99921309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289240 S 1 0 1 PALMD NA18507 nsv526047 1 99922610 100218634 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702283 S 2026 1 0 AGL,FRRS1,PALMD,SLC35A3 nsv823642 1 99946290 99946846 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428034 S 31 0 1 "" AK10 esv24594 1 99967478 99977051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11501,esv14576 M 451 0 6 FRRS1 NA18505,NA18511,NA18858,NA18861,NA18916,NA19240 nsv525046 1 100041579 100048005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701091 S 2026 0 1 "" dgv274n71 1 100053024 100154457 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870528,nsv871953 M 6533 0 2 AGL IS33475,IS39243 nsv871116 1 100075102 100218634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590295 S 6533 1 0 AGL,SLC35A3 IS38487 nsv523220 1 100111366 100116982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698942 S 2026 0 1 AGL esv268327 1 100128317 100128755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511028,essv2508500,essv2507792,essv2503779 M 157 4 0 Samples from several populations that are part of the HapMap project. AGL NA11831,NA12717,NA12751,NA12761 dgv73e1 1 100132243 100270930 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv197,essv19540 M 271 0 0 AGL,SLC35A3 NA12864 nsv428146 1 100132243 100270930 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450620 S 62 1 0 AGL,SLC35A3 NA19113 esv2655277 1 100137023 100138493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201134 S 1 0 1 AGL NA18507 nsv10406 1 100213720 100216815 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15440,nssv16431,nssv17759 M 31 3 0 Samples from several populations that are part of the HapMap project. SLC35A3 NA18853,NA18860,NA19173 esv2567165 1 100240298 100241721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304106 S 1 0 1 SLC35A3 NA18507 nsv830804 1 100274921 100448625 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448207 S 95 1 0 CCDC76,DBT,HIAT1,LRRC39,SASS6 esv274322 1 100324155 100324367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580208,essv2580361 M 7 2 0 Samples from several populations that are part of the HapMap project. SASS6 NA12878,NA12891 esv270253 1 100324214 100324561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548310,essv2557238,essv2551924,essv2536877,essv2575599,essv2526326,essv2568795,essv2571293,essv2551223,essv2563517 M 157 10 0 Samples from several populations that are part of the HapMap project. SASS6 NA10847,NA12045,NA18501,NA18504,NA18517,NA19099,NA19114,NA19147,NA19238,NA19257 esv1008570 1 100345680 100346175 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586791 S 3 1 0 SASS6 HuRef nsv2121 1 100353207 100387791 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1276 S 9 1 0 CCDC76,LRRC39,SASS6 NA19240 esv275107 1 100374353 100377901 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586079 S 1250 0 1 CCDC76 nsv524345 1 100505443 100517386 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700252 S 2026 0 1 RTCD1 nsv522987 1 100505443 100567795 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698657 S 2026 1 0 MIR553,RTCD1 nsv2132 1 100545489 100579424 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7423 S 9 1 0 "" NA12156 nsv525429 1 100553949 100554125 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701555 S 2026 1 0 "" nsv830815 1 100557415 100710906 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448229,nssv1448218 M 95 2 0 CDC14A nsv830826 1 100622915 100838475 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448240 S 95 1 0 CDC14A,GPR88 esv272458 1 100711170 100711255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581180 S 7 1 0 Samples from several populations that are part of the HapMap project. CDC14A NA19240 esv269897 1 100766781 100767112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558073,essv2565597,essv2575874,essv2540730,essv2571714,essv2521256,essv2542221,essv2536727,essv2522673,essv2543962,essv2570843,essv2556740,essv2545690,essv2523178,essv2531943,essv2577519,essv2570468,essv2548438,essv2521490,essv2576549,essv2550814,essv2550324,essv2535012,essv2544524,essv2520344,essv2547291,essv2529371,essv2558638,essv2564477,essv2577794,essv2553912,essv2559559,essv2565277,essv2564004,essv2555072,essv2561871,essv2537601,essv2528221,essv2546853,essv2540000,essv2552691,essv2551747,essv2532345,essv2569357,essv2578799,essv2537116,essv2569816,essv2544894,essv2562846,essv2523720,essv2541274,essv2538295,essv2542926,essv2540256,essv2524443,essv2564998,essv2534786,essv2561007,essv2539819,essv2549578,essv2519893,essv2560035,essv2522023,essv2566260,essv2532696,essv2528871,essv2567618,essv2541521,essv2570189,essv2563788,essv2553135,essv2535546,essv2572375,essv2558995,essv2550971,essv2569070,essv2543515,essv2556141,essv2533873,essv2578395,essv2572981,essv2555326,essv2533642,essv2555781,essv2567189,essv2529983,essv2527701,essv2555820,essv2534302,essv2522573,essv2531346,essv2573678,essv2543203,essv2573325,essv2577042,essv2572048,essv2525619,essv2526962,essv2575787,essv2526491,essv2560634,essv2568621,essv2560313,essv2571453,essv2545989,essv2574465,essv2551488,essv2535942,essv2537964,essv2548829,essv2533095,essv2554701,essv2547865,essv2525020,essv2563397 M 157 115 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11894,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18520,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA18980,NA19005,NA19099,NA19114,NA19116,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv274175 1 100766781 100767112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581812,essv2582538,essv2583024,essv2584321,essv2584632,essv2583884 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv823653 1 100776837 100777868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431825 S 31 0 1 GPR88 AK20 esv22185 1 100777276 100778321 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16028 S 451 0 1 GPR88 NA18861 nsv830837 1 100794896 100954194 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448251 S 95 0 1 LOC100128787 nsv871445 1 100884203 100969021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572194 S 6533 0 1 LOC100128787,VCAM1 IS32891 esv27022 1 100892522 100894995 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20945 S 451 0 5 "" NA18502,NA18508,NA18858,NA19114,NA19190 esv269661 1 100939892 100940251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509737,essv2498457,essv2496974 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18858,NA19190 nsv522064 1 100953930 101312454 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694834 S 2026 1 0 DPH5,EXTL2,SLC30A7,VCAM1 nsv522441 1 101044990 101049132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705799 S 2026 0 1 "" esv2438965 1 101057070 101057767 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271140 S 1 1 0 "" NA18507 esv5152 1 101161072 101161531 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27593 S 1 0 1 Single Asian sample YH SLC30A7 YH esv1088978 1 101202426 101202426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024296 S 2 1 0 SLC30A7 HuRef nsv508025 1 101330415 101336415 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624218 S 4 0 1 "" NA18994 nsv870825 1 101400597 101474020 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526110 S 6533 0 1 "" SP57022 dgv11n21 1 101411587 101412236 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528379,nsv522730 M 2026 0 2 "" nsv871867 1 101450320 101475134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501317 S 6533 0 1 S1PR1 SP50826 esv1305579 1 101491346 101491420 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681512 S 2 0 1 "" HuRef esv1190659 1 101491721 101491721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070314 S 2 1 0 "" HuRef esv1594659 1 101491941 101491995 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916978 S 2 0 1 "" HuRef esv2202662 1 101496545 101496992 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825413 S 1 0 1 "" NA18507 esv990332 1 101496718 101496794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583925 S 3 0 1 "" HuRef dgv275n71 1 101533477 101620433 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870549,nsv871811 M 6533 0 6 "" IS30308,IS31401,IS38704,IS40046,IS40062,IS41314 esv24906 1 101542543 101543601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19519 S 451 0 1 "" NA11995 esv274476 1 101542588 101542967 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579822,essv2580626,essv2579665 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 esv270858 1 101542622 101542962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503255,essv2511448,essv2505098,essv2499439,essv2507768,essv2500248,essv2502839,essv2493771,essv2494938,essv2498324,essv2511358,essv2500113,essv2513273,essv2511133,essv2503532,essv2502661,essv2501436,essv2499150,essv2498909,essv2503657,essv2503940 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11881,NA11920,NA11995,NA12044,NA12751,NA12891,NA12892,NA18517,NA18520,NA18526,NA18570,NA18573,NA18907,NA18944,NA18947,NA18965,NA19093,NA19114,NA19138 esv274998 1 101570665 101574777 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586018 S 1250 0 1 "" esv272610 1 101587152 101587237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581044 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv823664 1 101620827 101631012 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429568 S 31 0 1 "" AK14 esv24897 1 101638296 101639090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19401 S 451 0 2 "" NA11894,NA18858 nsv526432 1 101645453 101655463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702735 S 2026 0 1 "" nsv871595 1 101670559 101789688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525831,nssv1523384 M 6533 2 0 "" SP53999,SP56841 nsv830848 1 101702891 101886808 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448262 S 95 1 0 "" esv2581518 1 101752285 101759809 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242892 S 1 0 1 "" NA18507 nsv516967 1 101756396 101757520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686305,nssv675917,nssv673660,nssv653526 M 2026 0 4 "" nsv10417 1 101780192 101787833 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15430 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv436925 1 101780202 101789231 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466806 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv520951 1 101781773 101789688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697705 S 2026 0 1 "" nsv870566 1 101781940 101805830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534090 S 6533 0 1 "" MS11467 nsv159743 1 101790862 101790948 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178321 M 24 "" esv1686031 1 101791225 101791225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901849 S 2 1 0 "" HuRef esv1735476 1 101791471 101791471 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022897 S 2 1 0 "" HuRef esv1147927 1 101791509 101791579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089302 S 2 0 1 "" HuRef nsv527681 1 101873811 101888098 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704157 S 2026 0 1 "" nsv870459 1 101884756 101939204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505536 S 6533 0 1 "" SP53687 esv1059741 1 101896099 101896180 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649349 S 2 0 1 "" HuRef nsv522921 1 101942883 102648980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698582 S 2026 0 1 DNAJA1P5,MIR548AI,OLFM3 esv270065 1 102012706 102013062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493689,essv2494834,essv2513453,essv2507390,essv2501508,essv2506831,essv2510949,essv2509522,essv2497723 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18519,NA18907,NA18912,NA19093,NA19102,NA19116,NA19129,NA19147 dgv276n71 1 102015689 102076682 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871513,nsv871555 M 6533 4 0 OLFM3 MS17774,MS18940,MS20627,MS25690 nsv2143 1 102026767 102061395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3014 S 9 1 0 OLFM3 NA18555 nsv522156 1 102082237 102194302 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694929 S 2026 1 0 DNAJA1P5,MIR548AI,OLFM3 nsv441701 1 102096209 102098748 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OLFM3 nsv520768 1 102138728 102207718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676040,nssv697559,nssv675139,nssv684634,nssv692106,nssv679574 M 2026 0 6 MIR548AI,OLFM3 dgv74e1 1 102144927 102189681 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8990,esv1356 M 271 0 0 MIR548AI,OLFM3 NA19194 essv16578 1 102167808 102189681 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR548AI,OLFM3 NA19193 nsv508026 1 102217311 102223311 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618499 S 4 0 1 MIR548AI,OLFM3 CHM esv2422183 1 102223324 102569407 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161466 S 181 0 1 MIR548AI,OLFM3 ND04880 esv1278429 1 102267425 102267425 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122465 S 2 1 0 MIR548AI HuRef esv1525103 1 102285230 102285230 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112486 S 2 1 0 MIR548AI HuRef nsv2154 1 102332057 102352642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9970 S 9 1 0 MIR548AI NA18507 nsv871085 1 102335228 102498987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579251 S 6533 0 1 MIR548AI IS35083 esv1002403 1 102341007 102341657 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565179 S 3 1 0 MIR548AI HuRef esv268301 1 102341474 102347552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514613,essv2515004,essv2515585,essv2519397,essv2513743 M 157 5 0 Samples from several populations that are part of the HapMap project. MIR548AI NA07346,NA07347,NA11840,NA12812,NA12815 esv1135096 1 102341511 102341511 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233735 S 2 1 0 MIR548AI HuRef dgv12n21 1 102351895 102515063 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527496,nsv528450 M 2026 0 2 MIR548AI dgv277n71 1 102367472 102638231 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870464,nsv871874 M 6533 0 2 MIR548AI IS41672,SP81149 dgv13n21 1 102420526 102767806 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527939,nsv527282 M 2026 2 0 MIR548AI dgv5e55 1 102428272 102622567 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2750795,esv2750796 M 771 0 2 MIR548AI BEC_705,SPC_178 nsv521500 1 102439976 102567800 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698115 S 2026 1 0 MIR548AI dgv24n27 1 102439976 102600918 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462661,nsv462683 M 1557 0 2 MIR548AI 1780862585_A,NINDS_145 nsv462672 1 102442898 102599611 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538769 S 1557 1 0 MIR548AI 1782681378_A nsv870820 1 102446087 102498987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582734,nssv1600030 M 6533 0 2 MIR548AI IS36131,IS41832 nsv522781 1 102481105 102484513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698424 S 2026 0 1 MIR548AI nsv870749 1 102501863 102829858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546043 S 6533 0 1 MIR548AI MS17114 nsv823675 1 102564063 102567785 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431826 S 31 1 0 MIR548AI AK20 dgv278n71 1 102564576 102606683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871437,nsv870562 M 6533 0 3 MIR548AI IS31302,IS31306,IS34489 nsv871786 1 102571645 102638231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598848 S 6533 0 1 MIR548AI IS41068 dgv279n71 1 102571645 102689502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870925,nsv871924 M 6533 0 2 MIR548AI IS33786,IS33864 nsv830859 1 102577801 102760242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448273 S 95 0 1 MIR548AI nsv524686 1 102589129 102589429 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700658 S 2026 0 1 "" nsv462694 1 102589129 102601263 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538791 S 1557 0 1 "" NINDS_99 dgv6n17 1 102599611 102603213 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436947,nsv437230,nsv437231,nsv436936 M 60 0 4 "" NA07048,NA10861,NA18506,NA19211 nsv437926 1 102600719 102601411 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467830,nssv467853,nssv467819,nssv467841 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA07055,NA10861,NA11995 nsv870504 1 102639314 102688936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517788 S 6533 0 1 "" SP57368 esv267545 1 102693089 102693418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510167,essv2496625,essv2495429,essv2502537,essv2493349,essv2500298,essv2496764,essv2511715,essv2510533,essv2493283,essv2504093,essv2493581,essv2494945,essv2494577,essv2511357,essv2494468,essv2508137,essv2505286,essv2500946,essv2505812,essv2507197,essv2513321,essv2507305,essv2495543,essv2500783,essv2504712,essv2506839,essv2506576,essv2509581,essv2498702,essv2497536,essv2510403,essv2512196,essv2501733,essv2498005 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA11919,NA12750,NA12776,NA12891,NA18498,NA18499,NA18501,NA18504,NA18505,NA18517,NA18520,NA18550,NA18570,NA18572,NA18579,NA18853,NA18856,NA18861,NA18870,NA18907,NA18912,NA18916,NA18973,NA19099,NA19102,NA19108,NA19129,NA19138,NA19147,NA19172,NA19238,NA19239,NA19240 esv272808 1 102693101 102693446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582639,essv2583975,essv2584436,essv2583424 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv24050 1 102756236 102757357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20246 S 451 0 5 "" NA18511,NA18861,NA18907,NA18916,NA19129 nsv830871 1 102800865 102975765 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448284 S 95 0 1 "" esv2588514 1 102819164 102820885 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332575 S 1 0 1 "" NA18507 esv2302750 1 102820082 102820805 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975056 S 1 0 1 "" NA18507 esv4005 1 102820242 102820801 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26446 S 1 0 1 Single Asian sample YH "" YH esv1010447 1 102820269 102820598 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566102 S 3 0 1 "" HuRef esv1182751 1 102820280 102820610 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240462 S 2 0 1 "" HuRef nsv160443 1 102820281 102820610 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179021 M 24 "" esv9181 1 102820285 102820594 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31622 S 1 0 1 "" SJK esv270719 1 102826958 102827321 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495401,essv2502508,essv2507764,essv2493390,essv2500243,essv2509881 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA12750,NA12751,NA12776,NA12891,NA18508 esv272608 1 102827003 102827271 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580796 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv511707 1 102868161 102869757 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626348 S 1 0 1 "" 1 esv2568259 1 102868216 102869752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320969 S 1 0 1 "" NA18507 esv2117977 1 102868463 102869175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536680 S 1 0 1 "" NA18507 esv5235 1 102868626 102869106 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27676 S 1 0 1 Single Asian sample YH "" YH nsv159133 1 102868654 102868972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177711 M 24 "" esv989579 1 102868663 102868981 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578553 S 3 0 1 "" HuRef esv1119125 1 102868668 102868987 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177954 S 2 0 1 "" HuRef esv7494 1 102868672 102868984 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29935 S 1 0 1 "" SJK esv2003406 1 102883426 102883819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610152 S 1 0 1 "" NA18507 esv998667 1 102883577 102883643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578567 S 3 0 1 "" HuRef esv1707446 1 102883646 102883713 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167916 S 2 0 1 "" HuRef nsv158944 1 102883647 102883713 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177522 M 24 "" dgv280n71 1 102892850 103001167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870690,nsv871559 M 6533 0 2 "" IS34400,MS25617 nsv519967 1 102896391 102906497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694357 S 2026 0 1 "" nsv870987 1 102928489 103040347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560589 S 6533 0 1 "" MS24586 nsv462716 1 102949180 103032312 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538812 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01347 nsv830882 1 102965271 103128390 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448296 S 95 0 1 COL11A1 nsv2165 1 103041055 103072296 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2237 S 9 1 0 "" NA18555 nsv522922 1 103077609 103537228 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698583 S 2026 0 1 COL11A1 dgv281n71 1 103109189 103143620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870725,nsv871808,nsv871829 M 6533 0 3 COL11A1 IS33566,IS37226,SP50101 dgv282n71 1 103109189 103321085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870600,nsv871475,nsv870607,nsv871741,nsv871078 M 6533 0 6 COL11A1 MS15199,MS18620,MS18978,MS19634,MS20872,SP52094 nsv870821 1 103111860 103152506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541404 S 6533 0 1 COL11A1 MS15312 dgv283n71 1 103111860 103239505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870644,nsv871019,nsv871335,nsv871732,nsv871809,nsv871807,nsv870487,nsv871970 M 6533 0 14 COL11A1 IS31044,IS31067,IS31145,IS31179,IS31369,IS32289,IS35083,IS35743,IS35911,IS36656,IS39119,IS41068,MS22104,MS23290 dgv284n71 1 103122007 103152506 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871888,nsv871132,nsv871340,nsv870505 M 6533 0 7 COL11A1 IS31259,IS34645,MS10169,MS15036,MS17114,MS18648,MS24600 dgv285n71 1 103122007 103205275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871533,nsv871194,nsv870881,nsv870835,nsv870952 M 6533 0 6 COL11A1 IS37059,IS38148,IS39090,MS10727,MS23670,SP52093 nsv870601 1 103125039 103181688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600626 S 6533 1 0 COL11A1 IS41906 nsv462739 1 103126726 103174772 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538834 S 1557 0 1 COL11A1 NINDS_241 nsv871494 1 103126726 103239505 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594520,nssv1566973,nssv1571236,nssv1588723 M 6533 1 3 COL11A1 IS31041,IS32653,IS38239,IS39923 nsv462750 1 103128353 103152716 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538840 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL11A1 HGDP01337 dgv286n71 1 103157198 103239505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870701,nsv871840,nsv871929 M 6533 0 5 COL11A1 IS31837,IS33839,IS35196,IS40067,MS12827 dgv287n71 1 103157198 103337128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871372,nsv870995 M 6533 0 2 COL11A1 IS33533,IS39450 esv24564 1 103175673 103176357 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17322 S 451 1 0 COL11A1 NA18511 dgv288n71 1 103180587 103300716 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871067,nsv871567,nsv871657 M 6533 0 3 COL11A1 SP50649,SP56172,SP56267 nsv871736 1 103181688 103321085 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597680 S 6533 1 0 COL11A1 IS41189 nsv870521 1 103182146 103239505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582899 S 6533 0 1 COL11A1 IS36219 esv2323749 1 103187133 103187838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809519 S 1 0 1 COL11A1 NA18507 nsv871198 1 103205275 103270617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568514 S 6533 0 1 COL11A1 IS31302 nsv462772 1 103211383 103272484 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538860 S 1557 0 1 COL11A1 1780862310_A dgv25n27 1 103211383 103321085 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462783,nsv462794 M 1557 0 2 COL11A1 HGDP00580,NINDS_160 dgv289n71 1 103227805 103321085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871286,nsv871365 M 6533 0 2 COL11A1 SP56294,SP57379 nsv830893 1 103231086 103408167 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448318,nssv1448307 M 95 0 2 COL11A1 dgv290n71 1 103232125 103281911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871733,nsv871071 M 6533 0 4 COL11A1 SP53041,SP56132,SP56154,SP56185 nsv506951 1 103270799 103276799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619247,nssv620665,nssv617536,nssv623281 M 4 4 0 COL11A1 CHM,NA10860,NA15510,NA18994 nsv508027 1 103373620 103379620 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618500 S 4 0 1 "" CHM nsv526337 1 103409195 103476854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702628 S 2026 0 1 "" nsv159319 1 103418204 103427873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177897 M 24 "" esv997377 1 103428880 103429739 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565363 S 3 1 0 "" HuRef esv269622 1 103469018 103469164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510743,essv2494843,essv2509087,essv2513555,essv2509195,essv2501504,essv2512192,essv2498200,essv2502015 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18519,NA18522,NA18907,NA18909,NA19093,NA19238,NA19240,NA19257 esv272615 1 103469045 103469166 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580344,essv2579847 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 nsv506952 1 103469280 103475280 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617537 S 4 1 0 "" CHM esv270346 1 103491328 103491657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540919,essv2545404,essv2570454,essv2558307,essv2564337,essv2576172,essv2555111,essv2538357,essv2528921,essv2567577,essv2563513 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11831,NA12003,NA12044,NA12750,NA12751,NA12814,NA12872,NA18547,NA18579,NA18582 nsv870954 1 103503288 103713071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594918 S 6533 1 0 "" IS40063 nsv160700 1 103519977 103523370 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179278 M 24 "" dgv291n71 1 103557683 103790366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871379,nsv870844,nsv871882 M 6533 0 4 "" IS34599,IS38235,IS39248,MS17872 dgv292n71 1 103689343 103790366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv870472,nsv871517 M 6533 0 2 "" IS41982,MS18620 dgv14n21 1 103689343 103930296 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527940,nsv527283 M 2026 2 0 AMY2B,LOC648740,RNPC3 nsv830904 1 103708219 103908708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448329 S 95 0 1 AMY2B,RNPC3 dgv75e1 1 103762947 104012549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11653,essv4083 M 271 0 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 NA18635,NA19154 dgv76e1 1 103762947 104139123 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10314,essv21280,essv14390,essv3235,essv8875,essv1912,essv18211,essv4378,essv9780,essv2578,essv3454,essv18437,essv4817,essv1723,essv24926,essv583,essv855,essv12345,essv23245,essv1009,essv24794,essv5516,essv14565,essv5262,essv331,essv6012,essv15231,essv10016,essv9196,essv7570,essv26,essv8188,essv13729,essv5936,essv14370,essv22953,essv13166,essv20420,essv18075,essv6741,essv15744,essv17620,essv22759,essv17729,essv3148,essv22875,essv15586,essv10791,essv3869,essv5028,essv14641,essv20673,essv21698,essv20771,essv20320,essv9405,essv695,essv6875,essv4255,essv11098,essv24080,essv8923,essv18647,essv7016,essv8624,essv15407,essv5751,essv11566,essv24007,essv6233,essv19679,essv4486,essv8176,essv13045,essv20942,essv19232,essv11220,essv24713,essv13840,essv8451,essv5332,essv22292,essv17764,essv17347,essv20039,essv11429,essv19904,essv8378,essv4643,essv21049,essv12980,essv18411,essv1385,essv15340,essv21181,essv19762,essv11905,essv25015,essv17658,essv18138,essv18342,essv19103,essv19559,essv13634,essv4922,essv6339,essv1268,essv21520,essv2320,essv18774,essv18272,essv14859,essv3809,essv5801,essv10255,essv5204,essv23775,essv3353,essv5129,essv24149,essv3712,essv12557,essv246,essv2049,essv8324,essv6831,essv427,essv2167,essv22630,essv16052,essv14791,essv18985,essv6966,essv16969,essv301,essv7331,essv3520,essv20146,essv9135,essv23612,essv22447,essv19597,essv9614,essv110,essv3101,essv13769,essv22480,essv11864 M 271 0 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 NA06985,NA06991,NA06994,NA07019,NA07029,NA07048,NA07055,NA07345,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10855,NA10859,NA10860,NA11829,NA11830,NA11831,NA11881,NA11882,NA11993,NA11994,NA12005,NA12006,NA12057,NA12145,NA12146,NA12155,NA12234,NA12236,NA12248,NA12249,NA12264,NA12716,NA12752,NA12753,NA12760,NA12761,NA12763,NA12801,NA12813,NA12864,NA12872,NA12873,NA12874,NA12892,NA18501,NA18502,NA18506,NA18507,NA18508,NA18516,NA18522,NA18523,NA18529,NA18545,NA18550,NA18552,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18603,NA18605,NA18609,NA18611,NA18612,NA18620,NA18624,NA18636,NA18852,NA18854,NA18856,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18940,NA18943,NA18945,NA18947,NA18948,NA18949,NA18952,NA18960,NA18965,NA18968,NA18969,NA18971,NA18974,NA18975,NA18976,NA18978,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA19000,NA19005,NA19007,NA19012,NA19093,NA19094,NA19098,NA19099,NA19102,NA19103,NA19116,NA19119,NA19127,NA19128,NA19131,NA19137,NA19138,NA19141,NA19144,NA19152,NA19153,NA19159,NA19173,NA19194,NA19200,NA19202,NA19203,NA19204,NA19206,NA19208,NA19211,NA19221,NA19239 dgv77e1 1 103762947 104253525 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3268,essv15808,essv24286,essv24377,essv22122,essv4721,essv6165,essv2814,essv12283,essv12796,essv7288,essv6656,essv7780,esv252,essv4962,essv1597,essv1423,essv1531,essv21415,essv16644,essv2856,essv1128,essv15130,essv17463 M 271 0 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 NA10856,NA10857,NA12043,NA12707,NA12717,NA18532,NA18542,NA18592,NA18608,NA18622,NA18637,NA18942,NA18944,NA18953,NA18964,NA18972,NA18980,NA18987,NA19101,NA19120,NA19129,NA19142,NA19223 nsv428157 1 103762947 104253525 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450653,nssv450764,nssv450798,nssv450675,nssv450709,nssv450742,nssv450775,nssv450786,nssv450842,nssv450664,nssv450809,nssv450631,nssv450820,nssv450731,nssv450831,nssv450753,nssv450687,nssv450642,nssv450698,nssv450720 M 62 14 6 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 HGDP00460,HGDP00462,HGDP00467,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01094,NA18498,NA18916,NA19096,NA19113,NA19147,NA19181,NA19225,NA19257 nsv526367 1 103792219 104131400 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702661 S 2026 1 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 nsv830915 1 103797418 104094805 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448418,nssv1448362,nssv1448407,nssv1448340,nssv1448373,nssv1448429,nssv1448384,nssv1448451,nssv1448395,nssv1448440,nssv1448462,nssv1448351 M 95 7 5 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 nsv523177 1 103815773 103930296 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698890 S 2026 1 0 AMY2B,LOC648740,RNPC3 dgv293n71 1 103815773 103983732 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871607,nsv870570,nsv871704 M 6533 4 0 AMY2A,AMY2B,LOC648740,RNPC3 IS35380,IS35510,MS10777,SP50552 dgv294n71 1 103815773 104094454 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871438,nsv871725 M 6533 2 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 IS39250,MS22440 dgv295n71 1 103815773 104107839 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv870934,nsv871173 M 6533 6 2 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 IS33867,IS35445,IS37995,IS38060,IS38863,IS39475,MS13783,SP51146 nsv871791 1 103815773 104144421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581876 S 6533 0 1 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 IS35743 dgv296n71 1 103821607 103941535 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871894,nsv870467 M 6533 2 0 AMY2B,LOC648740,RNPC3 SP52700,SP56260 esv27438 1 103840477 103841810 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13780 S 451 1 0 RNPC3 NA12044 dgv78e1 1 103893839 104012549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2512,essv14171 M 271 0 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740,RNPC3 NA19003,NA19140 dgv3n64 1 103904580 103930296 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818278,nsv818289 M 112 6 0 AMY2B,LOC648740 NA11881,NA12239,NA19116,NA19120,NA19137,NA19159 nsv511132 1 103904580 103939623 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626698 S 1 1 0 AMY2B,LOC648740 1 dgv297n71 1 103904580 103966748 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871328,nsv871709,nsv871686 M 6533 29 0 AMY2A,AMY2B,LOC648740 IS30530,IS30542,IS32518,IS32661,IS32680,IS33055,IS33166,IS33519,IS34549,IS35169,IS35176,IS37503,IS37704,IS38294,IS39022,IS40046,IS40111,IS40248,IS40310,IS40879,IS41314,IS41782,MS11487,MS12674,MS24098,MS24357,SP51118,SP52369,SP55926 dgv298n71 1 103904580 103988831 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871240,nsv870468,nsv870921,nsv870542,nsv870731,nsv870736,nsv871775,nsv871148 M 6533 22 0 AMY2A,AMY2B,LOC648740 IS30129,IS30265,IS30340,IS31045,IS31117,IS33724,IS33863,IS34083,IS35165,IS35174,IS35963,IS36273,IS37415,IS37684,IS38058,IS38336,IS39352,IS40062,IS40847,MS18652,MS24798,SP58432 dgv299n71 1 103904580 104107839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv870686,nsv871971,nsv871388,nsv871216,nsv870856,nsv870627,nsv871875,nsv871978,nsv870830,nsv871990,nsv870930,nsv871446 M 6533 30 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740 IS30228,IS30835,IS32808,IS33651,IS33792,IS33797,IS33959,IS34432,IS35073,IS35336,IS35505,IS37776,IS38067,IS38185,IS38704,IS39407,IS39650,IS39759,IS40086,IS40205,IS40380,IS40665,IS40673,IS40867,IS40898,MS11753,MS14601,MS16693,SP52349,SP57299 nsv10428 1 103904751 104108181 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20753,nssv15766,nssv14097,nssv14411,nssv18434,nssv15776,nssv15758,nssv14422,nssv15114,nssv17413,nssv16757,nssv15096,nssv15444,nssv21413,nssv13085,nssv15423,nssv14754,nssv13765,nssv14738,nssv16418,nssv13745,nssv13415,nssv15760,nssv13762,nssv13747,nssv15116,nssv17087,nssv13767,nssv14081,nssv16427,nssv18780,nssv19744,nssv20734,nssv16095,nssv20074,nssv13435,nssv13105,nssv19094,nssv15428,nssv15446,nssv14092,nssv15118,nssv18764,nssv16088,nssv16761,nssv14732,nssv20404,nssv15436,nssv13417,nssv17083,nssv13751,nssv15092,nssv18089,nssv15451,nssv21083,nssv15098 M 31 19 7 Samples from several populations that are part of the HapMap project. AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv23292 1 103905209 104118541 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11093,esv16449,esv11903,esv11430,esv11322,esv21252,esv19650,esv16038,esv18119,esv12324,esv16570,esv10004,esv14615,esv16702,esv20377 M 451 21 11 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225,NA19257 esv33927 1 103906493 103965256 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101540,essv98741,essv98200,essv94829,essv96994,essv99027,essv93782,essv97239,essv99941,essv93537 M 51 10 0 AMY2A,AMY2B,LOC648740 21603,21606,21772,21791,21817,21938,21972,22075,22086,22128 nsv870628 1 103907158 104015650 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587527 S 6533 1 0 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740 IS38063 nsv517215 1 103907158 104144421 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655273,nssv679391,nssv667356,nssv688568,nssv658161,nssv660447,nssv682585,nssv680609,nssv659396,nssv692505,nssv654029,nssv689783,nssv661436,nssv661358,nssv671100,nssv689055,nssv672123,nssv667390,nssv699575,nssv662118,nssv676244,nssv669783,nssv662162,nssv657469,nssv665921,nssv676029,nssv701551,nssv673576,nssv700627,nssv694004,nssv670430,nssv666199,nssv662552,nssv700146,nssv661787,nssv664445,nssv684662,nssv669653,nssv691321,nssv656427,nssv677517,nssv668444,nssv668374,nssv652851,nssv656532,nssv661247,nssv655140,nssv689642,nssv667055,nssv658586,nssv662179,nssv652155,nssv698380,nssv657883,nssv672517,nssv658618,nssv655958,nssv652881,nssv661265,nssv663350,nssv681934,nssv675863,nssv658115,nssv689696,nssv681455,nssv685020,nssv676498,nssv673940,nssv661892,nssv689302,nssv693420,nssv669736,nssv668749,nssv689741,nssv684879,nssv663227 M 2026 75 1 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740 nsv442937 1 103910761 103960907 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 AMY2B,LOC648740 dgv300n71 1 103911245 104183347 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871983,nsv871982,nsv871199,nsv871771,nsv871981,nsv871993 M 6533 0 10 AMY1A,AMY1B,AMY1C,AMY2A,AMY2B,LOC648740 IS30597,IS34363,IS34749,IS34856,IS35263,IS41801,MS15312,MS15704,MS21986,SP55795 nsv514909 1 103911408 103974720 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628451 S 1414 0 0 AMY2A,AMY2B,LOC648740 esv1004547 1 103915864 103923698 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586423 S 3 1 0 AMY2B HuRef nsv823686 1 103915973 103924266 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432197 S 31 1 0 AMY2B NA18972 dgv301n71 1 103925054 104107839 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv871037,nsv871977,nsv871976,nsv871980,nsv871979 M 6533 27 45 AMY1A,AMY1B,AMY1C,AMY2A IS30322,IS30407,IS30668,IS30720,IS31396,IS31651,IS32259,IS32429,IS32644,IS32819,IS32868,IS33070,IS33211,IS33605,IS34055,IS34747,IS34748,IS35227,IS35378,IS37059,IS37139,IS37480,IS37734,IS38309,IS38362,IS38572,IS38645,IS39243,IS39333,IS39354,IS39372,IS39386,IS39532,IS40047,IS40222,IS40333,IS40490,IS40494,IS40573,IS40872,IS41565,IS41729,IS41842,IS41906,IS41926,IS41964,IS41966,MS10119,MS10204,MS10574,MS14495,MS15682,MS16368,MS16555,MS17244,MS17421,MS18916,MS18966,MS20254,MS21628,MS23472,MS23531,MS23626,MS24390,MS25789,SP53293,SP55084,SP57061,SP57181,SP58091,SP81109,SP81431 nsv2176 1 103928528 104062006 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9850,nssv10159 M 9 0 2 AMY1A,AMY1B,AMY1C,AMY2A NA18507,NA18956 nsv871972 1 103930296 103991643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580582,nssv1586699 M 6533 0 2 AMY2A IS35385,IS37960 nsv871973 1 103930296 104038992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590154 S 6533 0 1 AMY1A,AMY1B,AMY1C,AMY2A IS38464 nsv871974 1 103930296 104048591 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534992,nssv1556399,nssv1583876 M 6533 1 2 AMY1A,AMY1B,AMY1C,AMY2A IS36722,MS11886,MS21992 dgv302n71 1 103930296 104094454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv871975,nsv871989,nsv871988,nsv871987 M 6533 0 6 AMY1A,AMY1B,AMY1C,AMY2A IS32714,IS33403,IS38012,IS39078,IS39863,MS20305 dgv3n14 1 103933280 104104962 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433186,nsv433187 M 9 0 2 AMY1A,AMY1B,AMY1C,AMY2A NA12156,NA15510 nsv871984 1 103935981 103966748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515974 S 6533 0 1 AMY2A SP56331 nsv871985 1 103935981 103983732 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501457,nssv1499911,nssv1507180,nssv1501737,nssv1502226,nssv1507218 M 6533 1 5 AMY2A SP50521,SP50796,SP50877,SP51030,SP54490,SP54509 dgv303n71 1 103935981 104106627 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872004,nsv871986,nsv872000,nsv872024,nsv872016 M 6533 5 0 AMY1A,AMY1B,AMY1C,AMY2A SP54148,SP54769,SP54822,SP55436,SP56976 esv1003868 1 103938237 104104921 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586624 S 3 1 0 AMY1A,AMY1B,AMY1C,AMY2A HuRef nsv871991 1 103954623 103991643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536800 S 6533 0 1 AMY2A MS12968 nsv871992 1 103955388 103983732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518648 S 6533 1 0 AMY2A SP57873 dgv304n71 1 103958613 104113235 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872048,nsv872038,nsv872032,nsv871995,nsv872036,nsv872028,nsv872039,nsv872023,nsv872001,nsv872026,nsv871994,nsv872006,nsv872005,nsv872017,nsv872037,nsv872040,nsv872045 M 6533 0 25 AMY1A,AMY1B,AMY1C,AMY2A IS33406,IS33702,IS36910,IS37523,IS38037,IS41483,MS10682,MS12780,MS12983,MS13384,MS13401,MS13803,MS15573,MS23886,MS24419,MS26049,SP52195,SP53994,SP55041,SP55277,SP55882,SP56387,SP57148,SP57681,SP80937 dgv305n71 1 103959396 104083086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872035,nsv872011,nsv872022,nsv872021,nsv872030,nsv871996,nsv872034 M 6533 0 11 AMY1A,AMY1B,AMY1C,AMY2A IS32817,IS35489,IS36424,IS38246,MS16621,MS20812,SP50839,SP53044,SP54510,SP56154,SP56926 dgv1n31 1 103960803 104012024 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471326,nsv471475 M 3 AMY1A,AMY1B,AMY1C,AMY2A nsv871997 1 103961238 104024104 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513691 S 6533 1 0 AMY1A,AMY1B,AMY1C,AMY2A SP55829 dgv306n71 1 103961238 104063231 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv871998,nsv872007,nsv872008 M 6533 3 0 AMY1A,AMY1B,AMY1C,AMY2A IS41905,MS23579,SP55569 dgv307n71 1 103961238 104081267 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872029,nsv871999,nsv872010,nsv872020,nsv872009 M 6533 16 29 AMY1A,AMY1B,AMY1C,AMY2A IS30423,IS33148,IS33261,IS33852,IS34184,IS34523,IS36158,IS36458,IS37351,IS38577,IS39426,IS40302,IS40662,MS12092,MS15628,MS16728,MS17203,MS19017,MS21275,MS21528,MS24672,SP50569,SP50593,SP51259,SP51338,SP52270,SP52579,SP52729,SP52762,SP53276,SP54661,SP54682,SP54720,SP55032,SP55200,SP55355,SP56513,SP56788,SP56830,SP56927,SP57485,SP58409,SP80917,SP81386,SP81507 dgv308n71 1 103961238 104107839 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872025,nsv872003,nsv872013,nsv872002,nsv872043,nsv872015,nsv872014,nsv872012,nsv872027,nsv872031 M 6533 36 71 AMY1A,AMY1B,AMY1C,AMY2A IS31021,IS32322,IS32382,IS33087,IS33143,IS33248,IS33292,IS33487,IS33529,IS33726,IS34779,IS35270,IS35279,IS35624,IS35800,IS36955,IS37064,IS37573,IS37577,IS38220,IS38225,IS38242,IS38264,IS38350,IS38490,IS39125,IS39676,IS40005,IS40471,IS40503,IS40582,IS40681,IS40707,IS40809,IS40942,IS40943,MS10283,MS10658,MS11159,MS11194,MS11252,MS13241,MS14679,MS14769,MS15771,MS15972,MS16049,MS16847,MS17164,MS17278,MS17306,MS17400,MS18124,MS18211,MS18247,MS20008,MS20009,MS20269,MS21449,MS21937,MS22088,MS22494,MS23451,MS23770,MS23865,MS23868,MS24020,MS24121,MS24489,MS24533,MS24790,MS24909,MS25042,MS25529,MS26151,SP50080,SP50585,SP51200,SP51353,SP51449,SP52500,SP52724,SP52940,SP53317,SP53515,SP53518,SP54789,SP54796,SP54937,SP54941,SP55019,SP55093,SP55107,SP55138,SP55557,SP55966,SP55984,SP56505,SP56936,SP56975,SP57789,SP80945,SP81061,SP81188,SP81276,SP81469,SP81557 nsv471345 1 103961522 103969916 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548031,nssv548032,nssv548033 M 3 AMY2A nsv482048 1 103961522 103969916 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558409 S 1 1 0 AMY2A KB1 dgv58n67 1 103962219 104012579 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823698,nsv823709 M 31 2 0 AMY1A,AMY1B,AMY1C,AMY2A NA18566,NA18972 nsv872018 1 103969301 104026455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590546 S 6533 0 1 AMY1A,AMY1B,AMY1C,AMY2A IS38525 dgv309n71 1 103969301 104052886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872049,nsv872019,nsv872033,nsv872041,nsv872046 M 6533 0 6 AMY1A,AMY1B,AMY1C,AMY2A IS35545,IS38668,MS12606,MS17665,MS23079,SP81019 nsv469513 1 103979517 104094855 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649659 M 265 181 0 Samples from several populations that are part of the HapMap project. AMY1A,AMY1B,AMY1C nsv471677 1 103979518 104094855 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548756,nssv548768,nssv548740,nssv548733,nssv548751,nssv548730,nssv548731,nssv548744,nssv548771,nssv548749,nssv548753,nssv548766,nssv548754,nssv548735,nssv548767,nssv548770,nssv548747,nssv548761,nssv548750,nssv548729,nssv548762,nssv548743,nssv548759,nssv548746,nssv548732,nssv548739,nssv548737,nssv548738,nssv548760,nssv548765,nssv548769,nssv548745,nssv548728,nssv548741,nssv548734,nssv548742,nssv548757,nssv548755,nssv548764,nssv548763,nssv548752,nssv548727,nssv548758,nssv548736,nssv548748 M 48 3 42 AMY1A,AMY1B,AMY1C JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11521,NA11523,NA11776,NA15724,NA15725,NA15728,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17051,NA17052,NA17058,NA17059,P86GA dgv310n71 1 103984811 104070228 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872047,nsv872042 M 6533 2 0 AMY1A,AMY1B,AMY1C IS38367,MS19140 dgv311n71 1 103988943 104070228 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872044,nsv872053 M 6533 18 17 AMY1A,AMY1B,AMY1C IS33757,IS36936,IS37753,IS40524,IS40744,IS41213,IS41724,IS41806,MS10674,MS10950,MS11087,MS14824,MS15743,MS17902,MS18077,MS19340,MS22089,MS24450,MS24752,MS25888,MS25889,SP50153,SP51267,SP52562,SP54286,SP55167,SP56807,SP57654,SP81092,SP81160,SP81161,SP81240,SP81389,SP81452,SP81543 nsv511121 1 103989305 104050954 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622424 S 4 0 0 AMY1A,AMY1B,AMY1C NA10860 dgv312n71 1 103991756 104099390 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872050,nsv872054,nsv872057,nsv872052 M 6533 0 11 AMY1A,AMY1B,AMY1C IS32686,IS39355,MS14330,MS22748,MS25139,SP50660,SP51439,SP52095,SP53342,SP55915,SP56126 dgv313n71 1 103991756 104109897 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872055,nsv872060,nsv872056,nsv872051 M 6533 4 0 AMY1A,AMY1B,AMY1C MS12506,MS17806,MS24584,SP58241 nsv7179 1 103995201 104014104 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10162 S 9 0 0 AMY1A,AMY1B,AMY1C NA18956 dgv314n71 1 103999836 104107839 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872065,nsv872066,nsv872058,nsv872059 M 6533 5 22 AMY1A,AMY1B,AMY1C IS30063,IS30141,IS30284,IS30826,IS31835,IS32775,IS33240,IS33850,IS34630,IS34709,IS36153,IS39095,IS40420,IS41919,MS13791,MS14304,MS14933,MS15337,MS24444,SP52886,SP53060,SP54268,SP56347,SP57736,SP80938,SP81211,SP81501 dgv315n71 1 103999836 104144421 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872062,nsv872061 M 6533 2 0 AMY1A,AMY1B,AMY1C IS41196,MS17529 dgv316n71 1 104013599 104083086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872063,nsv872064 M 6533 0 2 AMY1A,AMY1B,AMY1C IS38063,MS11525 nsv471437 1 104014190 104108542 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548133,nssv548355,nssv548244 M 3 AMY1A,AMY1B,AMY1C dgv317n71 1 104015650 104152300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872070,nsv872067 M 6533 0 2 AMY1A,AMY1B,AMY1C MS23490,MS24015 nsv872068 1 104015650 104183347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521973 S 6533 0 1 AMY1A,AMY1B,AMY1C SP52685 nsv508028 1 104024688 104030688 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618501 S 4 0 1 "" CHM nsv872069 1 104026455 104104962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504607,nssv1501718 M 6533 0 2 AMY1A,AMY1B,AMY1C SP51042,SP52661 nsv509402 1 104078976 104083443 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623789 S 4 1 0 "" NA18994 nsv471346 1 104093963 104102833 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548036,nssv548035,nssv548037 M 3 AMY1A,AMY1B,AMY1C nsv482059 1 104093963 104102833 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558420 S 1 1 0 AMY1A,AMY1B,AMY1C KB1 nsv872071 1 104099390 104220142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499242 S 6533 1 0 AMY1A,AMY1B,AMY1C SP50117 nsv823720 1 104107775 104117764 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435666,nssv1432219 M 31 2 0 "" NA18566,NA18972 nsv10439 1 104111933 104120318 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21773,nssv14077,nssv15774,nssv21064,nssv14075,nssv14752 M 31 6 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA18942,NA18972,NA18975 esv32796 1 104112354 104117593 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98849,essv98207 M 51 2 0 "" 21606,21772 nsv462805 1 104113235 104177689 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538893 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00580 nsv470730 1 104113235 104185498 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547759,nssv547760 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00948,HGDP01216 nsv10450 1 104134641 104143145 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16106 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv10461 1 104203626 104224582 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14427 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv523805 1 104238397 104241773 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699634 S 2026 1 0 "" esv2541656 1 104244064 104245694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219849 S 1 0 1 "" NA18507 esv2249901 1 104244525 104245424 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661207 S 1 0 1 "" NA18507 dgv59n67 1 104244674 104245258 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823731,nsv823742 M 31 0 26 "" AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820709 1 104244674 104245258 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420458 S 1 0 1 "" NA10851 esv994122 1 104244722 104245247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571601 S 3 0 1 "" HuRef esv6018 1 104244725 104245234 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28459 S 1 0 1 "" SJK esv21648 1 104244763 104245258 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19059 S 451 36 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2606135 1 104252518 104253862 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327994 S 1 0 1 "" NA18507 esv2294842 1 104252836 104253356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621360 S 1 0 1 "" NA18507 nsv823753 1 104252978 104253799 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434179 S 31 1 0 "" NA18570 esv2555161 1 104253029 104253182 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191109 S 1 0 1 "" NA18507 nsv872072 1 104272145 104878333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577410 S 6533 0 1 LOC100129138 IS34440 nsv2188 1 104274099 104294899 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3023,nssv4447,nssv5742 M 9 3 0 "" NA12878,NA18555,NA19129 nsv509413 1 104278629 104317088 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619809,nssv621098,nssv623791 M 4 3 0 "" NA10860,NA15510,NA18994 esv1009790 1 104282357 104282949 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564023 S 3 1 0 "" HuRef esv269312 1 104294407 104294664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513533,essv2506582,essv2498831,essv2501921 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19108,NA19138,NA19239 esv273154 1 104294514 104294803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580448 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv872073 1 104303856 104520578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524606 S 6533 0 1 LOC100129138 SP55122 esv271950 1 104375972 104376310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557893,essv2565869,essv2540774,essv2521242,essv2542359,essv2544089,essv2545588,essv2531838,essv2548256,essv2521713,essv2576902,essv2535166,essv2552166,essv2520473,essv2558609,essv2564511,essv2577761,essv2559657,essv2564085,essv2554867,essv2562019,essv2532141,essv2558779,essv2527225,essv2538179,essv2539726,essv2549468,essv2532614,essv2567371,essv2563636,essv2559110,essv2541975,essv2568927,essv2555414,essv2555876,essv2522539,essv2531356,essv2529572,essv2538652,essv2526348,essv2574599,essv2551440,essv2549022,essv2554447,essv2525150 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07357,NA10851,NA11829,NA11831,NA11894,NA11919,NA11992,NA12003,NA12006,NA12045,NA12144,NA12154,NA12249,NA12489,NA12716,NA12750,NA12751,NA12761,NA12776,NA12828,NA12872,NA12874,NA18505,NA18516,NA18522,NA18547,NA18563,NA18564,NA18576,NA18582,NA18603,NA18638,NA18856,NA18861,NA18943,NA18956,NA18960,NA18961,NA19093,NA19108,NA19114,NA19138,NA19257 esv1002516 1 104375990 104375990 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581351 S 3 1 0 "" HuRef nsv508029 1 104376854 104382854 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621474,nssv618502 M 4 0 2 "" CHM,NA15510 nsv2199 1 104394362 104407227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5744 S 9 1 0 "" NA19129 nsv435907 1 104426511 104431824 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466184 S 2 0 1 "" NA15510 esv27825 1 104470632 104471609 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18725,esv14076 M 451 33 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv820869 1 104470632 104471696 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420469 S 1 0 1 "" NA10851 esv999353 1 104490960 104500958 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564827 S 3 0 1 "" HuRef esv23471 1 104508146 104509480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16510 S 451 0 1 "" NA19114 nsv523600 1 104541528 104582290 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699393 S 2026 0 1 "" nsv823764 1 104592544 104593478 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431828 S 31 1 0 "" AK20 esv2602228 1 104593292 104593432 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292236 S 1 0 1 "" NA18507 esv28335 1 104610791 104611478 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20828 S 451 0 1 "" NA19147 nsv872074 1 104645697 104724028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558538,nssv1530093 M 6533 0 2 "" MS10203,MS23340 nsv508030 1 104649781 104655781 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621475 S 4 0 1 "" NA15510 esv2602994 1 104669833 104673123 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306441 S 1 0 1 "" NA18507 esv2253586 1 104670729 104673066 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550739 S 1 0 1 "" NA18507 nsv872075 1 104673041 104724028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519639 S 6533 0 1 "" SP50101 nsv872076 1 104673041 104753822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568849 S 6533 0 1 "" IS31369 nsv462827 1 104683804 104699371 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538912 S 1557 1 0 "" 1788485590_A nsv462840 1 104691609 104712849 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538923 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00925 nsv872077 1 104692082 104753822 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541084,nssv1548429 M 6533 1 1 "" MS15199,MS17842 dgv318n71 1 104692082 104798994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872079,nsv872080,nsv872078 M 6533 0 3 "" MS15749,MS19634,MS20872 esv2116318 1 104693320 104693694 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573403 S 1 0 1 "" NA18507 esv1020604 1 104693543 104693592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284074 S 2 0 1 "" HuRef esv259922 1 104733531 104733846 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399010,essv2398871,essv2395801,essv2396586,essv2398865,essv2398947,essv2395365,essv2395881,essv2395441,essv2401027,essv2394818,essv2396459,essv2398047 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11995,NA12004,NA18507,NA18582,NA18603,NA18916,NA18945,NA18948,NA19099,NA19114,NA19138,NA19147 nsv528566 1 104746373 104828920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705185 S 2026 0 1 "" nsv519539 1 104793173 104811160 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696908 S 2026 1 0 "" nsv872081 1 104811160 105257514 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595565 S 6533 1 0 MIR548H3 IS40264 esv273663 1 104829540 104829884 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580714,essv2579520 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269364 1 104829712 104829875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510994,essv2503215,essv2496704,essv2511395,essv2499414,essv2508371,essv2512604,essv2510713,essv2503030,essv2509774,essv2496490,essv2507803,essv2500068,essv2497411,essv2504872,essv2507026,essv2506742,essv2498910,essv2497547,essv2499747,essv2501941,essv2498165,essv2503990 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11831,NA11881,NA11894,NA11920,NA12044,NA12749,NA18489,NA18501,NA18507,NA18508,NA18510,NA18564,NA18573,NA18959,NA19099,NA19102,NA19108,NA19138,NA19147,NA19225,NA19239,NA19240 esv272551 1 104855567 104855844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579314 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270295 1 104855575 104855902 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558218,essv2575928,essv2540940,essv2546318,essv2521318,essv2526150,essv2536633,essv2570941,essv2556497,essv2523356,essv2577398,essv2570605,essv2548286,essv2521661,essv2552060,essv2559732,essv2565224,essv2555163,essv2546698,essv2540024,essv2556966,essv2532330,essv2562775,essv2569572,essv2550068,essv2539024,essv2561698,essv2563028,essv2523848,essv2553084,essv2543010,essv2540267,essv2524688,essv2564897,essv2539691,essv2549395,essv2522056,essv2531243,essv2532856,essv2568010,essv2528734,essv2567645,essv2541562,essv2570257,essv2563641,essv2553479,essv2535498,essv2572352,essv2558977,essv2551100,essv2569083,essv2528141,essv2578281,essv2555255,essv2555779,essv2567090,essv2573822,essv2555861,essv2534298,essv2522339,essv2573562,essv2543200,essv2572008,essv2525663,essv2575713,essv2575369,essv2538661,essv2526633,essv2574669,essv2530442,essv2568742,essv2545029,essv2549928,essv2571196,essv2546033,essv2574410,essv2551502,essv2536333,essv2548639,essv2533348 M 157 80 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11993,NA11994,NA12004,NA12043,NA12044,NA12045,NA12144,NA12489,NA12776,NA12812,NA12872,NA12892,NA18489,NA18501,NA18505,NA18507,NA18508,NA18511,NA18519,NA18523,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18907,NA18940,NA18943,NA18945,NA18947,NA18951,NA18956,NA18959,NA18960,NA18964,NA18965,NA18973,NA18980,NA19099,NA19102,NA19108,NA19114,NA19138,NA19141,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 nsv508437 1 104858332 104881355 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622772 S 4 0 1 "" NA18994 nsv872082 1 104859078 104892099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513171 S 6533 0 1 "" SP55694 nsv872083 1 104864217 104908021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577815,nssv1582721,nssv1600164,nssv1575398 M 6533 0 4 "" IS33738,IS34573,IS36117,IS41853 esv269079 1 104871729 104872045 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510960,essv2511391,essv2508051,essv2495894,essv2510555,essv2509733,essv2496458,essv2509095,essv2507864,essv2500149,essv2505236,essv2509301,essv2504816,essv2506847,essv2506600,essv2497707,essv2503888 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11831,NA11920,NA12045,NA12489,NA18501,NA18508,NA18510,NA18522,NA18564,NA18573,NA18853,NA18909,NA19099,NA19102,NA19108,NA19147 nsv823775 1 104880961 104881509 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436350 S 31 0 1 "" NA18542 esv270765 1 104940137 104940488 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511414,essv2501682,essv2510301,essv2493448,essv2506274,essv2498360,essv2508786,essv2500450,essv2503338,essv2497323,essv2494610,essv2497199,essv2497743,essv2499966,essv2504570,essv2507885,essv2506318,essv2494450,essv2507635,essv2508199,essv2508401,essv2508692,essv2510014,essv2496044,essv2499299,essv2501625,essv2512928,essv2507523,essv2511611,essv2503094,essv2497868,essv2502368,essv2512298,essv2493043,essv2509386,essv2500567,essv2497449,essv2500716,essv2501373,essv2506477,essv2493534,essv2503608,essv2499560 M 157 43 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11920,NA12144,NA12414,NA12763,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18940,NA18943,NA18945,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18973,NA19093,NA19108,NA19137 nsv872084 1 105013407 105075588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583439 S 6533 1 0 "" IS36475 nsv872085 1 105013407 105225678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546045 S 6533 0 1 MIR548H3 MS17114 esv997609 1 105020082 105020986 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587086 S 3 0 1 "" HuRef esv268826 1 105032611 105032781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557803,essv2540718,essv2546596,essv2521067,essv2526271,essv2542369,essv2536728,essv2522982,essv2570849,essv2556524,essv2568376,essv2545305,essv2523101,essv2577549,essv2570728,essv2548534,essv2576880,essv2550539,essv2554179,essv2552063,essv2520511,essv2547410,essv2529319,essv2564408,essv2578044,essv2553756,essv2559539,essv2576134,essv2520121,essv2563940,essv2530573,essv2561906,essv2537207,essv2528551,essv2546950,essv2551823,essv2578609,essv2569851,essv2527192,essv2552939,essv2565055,essv2534705,essv2561171,essv2519668,essv2532734,essv2567906,essv2528842,essv2570178,essv2535881,essv2572517,essv2559076,essv2568897,essv2543776,essv2562200,essv2539280,essv2573254,essv2533671,essv2534269,essv2575398,essv2574683,essv2536004,essv2537786,essv2548967,essv2554371,essv2524896,essv2563328 M 157 66 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12154,NA12155,NA12287,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18504,NA18510,NA18520,NA18522,NA18542,NA18558,NA18561,NA18562,NA18566,NA18576,NA18577,NA18579,NA18593,NA18608,NA18609,NA18638,NA18861,NA18870,NA18909,NA18912,NA18942,NA18944,NA18959,NA19099,NA19138 esv272905 1 105032613 105032781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581649,essv2582491,essv2582961 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1121462 1 105032634 105032634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660275 S 2 1 0 "" HuRef nsv462873 1 105037300 105088277 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538947 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 nsv508031 1 105054122 105060122 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618503 S 4 0 1 "" CHM nsv820044 1 105055522 105057756 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419406 S 2 0 1 "" AK1 nsv511136 1 105056444 105057822 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624710 S 1 1 0 "" 1 esv8191 1 105056541 105057717 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30632 S 1 0 1 "" SJK dgv60n67 1 105056655 105057726 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823786,nsv823797 M 31 0 26 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 esv22724 1 105056873 105057712 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20665 S 451 0 2 "" NA18916,NA19129 nsv872086 1 105080037 105142703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556539 S 6533 0 1 MIR548H3 MS22104 nsv872087 1 105095816 105225678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567173 S 6533 0 1 MIR548H3 IS31046 esv28027 1 105101788 105102722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20500 S 451 0 1 "" NA11995 nsv462884 1 105114146 105251544 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538954 S 1557 0 1 MIR548H3 NINDS_227 nsv525274 1 105122765 105166823 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701375 S 2026 1 0 MIR548H3 nsv2210 1 105140814 105174758 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1284 S 9 1 0 MIR548H3 NA19240 nsv830926 1 105153655 105235551 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448473,nssv1448484 M 95 1 1 MIR548H3 nsv872088 1 105196636 105266535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541586 S 6533 0 1 MIR548H3 MS15383 nsv830937 1 105215898 105373867 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448495 S 95 1 0 MIR548H3 esv2463295 1 105228948 105230651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343139 S 1 0 1 MIR548H3 NA18507 esv2376593 1 105229633 105230379 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546824 S 1 0 1 MIR548H3 NA18507 esv3706 1 105229791 105230276 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26147 S 1 0 1 Single Asian sample YH MIR548H3 YH nsv160929 1 105229833 105230162 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179507 M 24 MIR548H3 esv6425 1 105229841 105230167 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28866 S 1 0 1 MIR548H3 SJK esv1701476 1 105229843 105230173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596161 S 2 0 1 MIR548H3 HuRef dgv319n71 1 105310874 105439437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872090,nsv872089 M 6533 0 2 MIR548H3 IS31338,IS35717 esv23726 1 105427846 105432029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9806 S 451 0 1 MIR548H3 NA18907 nsv462906 1 105439437 105587913 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538965 S 1557 1 0 MIR548H3 1782681378_A esv24741 1 105469153 105469979 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12014 S 451 38 0 MIR548H3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820381 1 105469153 105469979 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420480 S 1 0 1 MIR548H3 NA10851 nsv872091 1 105471866 105502473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568515 S 6533 0 1 MIR548H3 IS31302 nsv2221 1 105493030 105523475 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2246 S 9 1 0 "" NA18555 nsv462917 1 105505574 105618617 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538975 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00279 nsv872092 1 105514434 105550104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551699 S 6533 0 1 "" MS18978 dgv320n71 1 105521466 105730135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872093,nsv872094 M 6533 0 3 "" IS35924,IS41292,SP81440 nsv462928 1 105526722 105587169 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538985 S 1557 0 1 "" NINDS_166 dgv321n71 1 105583837 105646741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872095,nsv872097 M 6533 0 2 "" IS35145,IS41068 dgv322n71 1 105583837 105785636 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872099,nsv872100,nsv872096,nsv872101 M 6533 0 5 "" IS30532,IS31302,IS35229,IS35572,IS41043 nsv872098 1 105587913 105730135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565896,nssv1580217,nssv1600921,nssv1580162,nssv1581877,nssv1597930,nssv1567280,nssv1568307,nssv1583756,nssv1569310 M 6533 0 10 "" IS30537,IS31067,IS31233,IS31563,IS35236,IS35244,IS35743,IS36656,IS41224,IS41948 nsv508448 1 105600920 105627107 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622773 S 4 0 1 "" NA18994 dgv323n71 1 105618617 105980728 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872103,nsv872102 M 6533 0 2 "" IS30539,MS17114 dgv26n27 1 105627084 105751839 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462939,nsv462951 M 1557 0 2 "" NINDS_117,NINDS_125 nsv441703 1 105634380 105641635 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv819197 1 105635582 105647162 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418613 S 2 0 1 "" AK1 nsv514910 1 105636992 105641584 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628452 S 1414 0 0 "" nsv830948 1 105651765 105814712 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448506,nssv1448518 M 95 2 0 "" esv268549 1 105659270 105665389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499465,essv2496616,essv2494279,essv2496528,essv2494657,essv2494989,essv2513545,essv2497549,essv2493869,essv2499825 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA18486,NA18502,NA18510,NA18519,NA18520,NA18907,NA19147,NA19210,NA19225 esv2438647 1 105667530 105669000 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287613 S 1 0 1 "" NA18507 esv2155396 1 105668130 105668748 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841978 S 1 0 1 "" NA18507 esv4472 1 105668275 105668783 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26913 S 1 0 1 Single Asian sample YH "" YH esv1184395 1 105668306 105668580 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812611 S 2 0 1 "" HuRef esv8229 1 105668327 105668559 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30670 S 1 0 1 "" SJK nsv428168 1 105728511 106159767 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450853 S 62 0 1 "" NA19108 nsv818300 1 105755519 105783414 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417811,nssv1417812 M 112 2 0 "" NA18852,NA18853 nsv10472 1 105772203 105796522 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14757 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv268150 1 105775500 105775738 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494163,essv2496455,essv2494634,essv2509054,essv2497624,essv2499696 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18519,NA18522,NA19147,NA19225 nsv471688 1 105789055 105959460 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550647 S 48 0 1 "" NA17017 nsv2232 1 105806170 105864416 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2257,nssv1293,nssv2256 M 9 0 2 "" NA18555,NA19240 nsv515547 1 105808664 105882130 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669678,nssv686774,nssv663873 M 2026 3 0 "" esv2576180 1 105816071 105825129 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359561 S 1 0 1 "" NA18507 nsv819373 1 105816667 105824965 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419865 S 2 0 1 "" AK1 esv2563802 1 105816767 105825605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368456 S 1 0 1 "" NA18507 dgv3n50 1 105816823 105826321 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511133,nsv511708 M 1 0 1 "" 1 esv995806 1 105817122 105825310 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563915 S 3 0 1 "" HuRef esv2004929 1 105817189 105825091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538822 S 1 0 1 "" NA18507 esv4691 1 105817308 105825002 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27132 S 1 0 1 Single Asian sample YH "" YH esv9304 1 105817322 105825006 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31745 S 1 0 1 "" SJK nsv10483 1 105817322 105825895 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18449,nssv16425,nssv16422,nssv14095,nssv17091,nssv22103,nssv15426,nssv14741,nssv18078,nssv17743,nssv16096,nssv15781,nssv16104,nssv15112,nssv14407,nssv15770,nssv19424,nssv15117,nssv21394,nssv16436,nssv15769 M 31 0 21 Samples from several populations that are part of the HapMap project. "" NA10839,NA10863,NA11830,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19240 esv28833 1 105817336 105824920 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19532 S 451 0 24 "" NA06985,NA07045,NA11894,NA11993,NA12004,NA12006,NA12044,NA12239,NA12414,NA15510,NA18502,NA18511,NA18517,NA18858,NA18907,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 dgv2n47 1 105817337 105824922 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498676,nsv498677 M 9 0 2 "" dgv61n67 1 105817666 105824239 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823809,nsv823820 M 31 0 26 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973 nsv513995 1 105819528 105824064 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627570 S 1414 0 1 "" esv33680 1 105820367 105823439 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101091,essv94752,essv98450 M 51 0 3 "" 21693,21791,22352 dgv7n17 1 105820688 105828887 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437232,nsv437233,nsv437234 M 60 0 3 "" NA18503,NA19103,NA19211 esv2421712 1 105820728 105823898 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158978,essv5050399,essv5028476,essv5154771,essv5032221,essv5119280,essv5146162,essv5134439,essv5098758,essv5133200,essv5154206,essv5106813,essv5121472,essv5074889,essv5089468,essv5120514,essv5081668,essv5137976,essv5109726,essv5005574,essv5023155,essv5154528,essv5086560,essv5116476,essv5072594,essv5128195,essv5048046,essv5101605,essv5098715,essv5061212,essv5133627,essv5056750,essv5049276,essv5085240,essv5021369,essv5078291,essv5020351,essv5125051,essv5063656,essv5058742,essv5076051,essv5074192,essv5005742,essv5040990,essv5042172,essv5076674,essv5094848,essv5154417,essv5154769,essv5011017,essv5033508,essv5136221,essv5088531,essv5016537,essv5133831,essv5157660,essv5046048,essv5092525,essv5083925,essv5022635,essv5103825,essv5147369,essv5078495,essv5064604,essv5064146,essv5121339,essv5129459,essv5143517,essv5008066,essv5059099,essv5116498,essv5114333,essv5148942,essv5155917,essv5148075,essv5026522,essv5113940,essv5115887,essv5154495,essv5035879,essv5120761,essv5114152,essv5069607,essv5007727,essv5158182,essv5131299,essv5098298,essv5115311,essv5021900,essv5072142,essv5073001,essv5118847,essv5115727,essv5024497,essv5047308,essv5141362,essv5045192,essv5005810,essv5138294,essv5129319,essv5076120,essv5124527,essv5134660,essv5083834,essv5122620,essv5064684,essv5090526,essv5156999,essv5020794,essv5076045,essv5033961,essv5130440,essv5038077,essv5073118,essv5068001,essv5063494,essv5044517,essv5021424,essv5099397,essv5077389,essv5088472,essv5008500,essv5017092,essv5143067,essv5091429,essv5065556,essv5026726,essv5018387,essv5027341,essv5114410,essv5003863,essv5011710,essv5151009,essv5106663,essv5128715,essv5123538,essv5095497,essv5056859,essv5117085,essv5070219,essv5089195,essv5062694,essv5031224,essv5149744,essv5006480,essv5015502,essv5147636,essv5140095,essv5049406,essv5016823,essv5055497,essv5092135,essv5105736,essv5131607,essv5034503,essv5037853,essv5091250,essv5131568,essv5057889,essv5087403,essv5061730,essv5101468,essv5056630,essv5149470,essv5025347,essv5026860,essv5065960,essv5132801,essv5103562,essv5006861,essv5032308,essv5035594,essv5019782,essv5053226,essv5054312,essv5126436,essv5131233,essv5126041,essv5010965,essv5030613,essv5157433,essv5069210,essv5116419,essv5102054,essv5159133,essv5068766,essv5111513,essv5062942,essv5012482,essv5087667,essv5066336,essv5069622,essv5090573,essv5031461,essv5025759,essv5011544,essv5088527,essv5088470,essv5044290,essv5039153,essv5090746,essv5018374,essv5054106,essv5022122,essv5140722,essv5041170,essv5105792,essv5029220,essv5148815,essv5135641,essv5095300,essv5055043,essv5041680,essv5019107,essv5124156,essv5121602,essv5048741,essv5128054,essv5055010,essv5087605,essv5106083,essv5016777,essv5102589,essv5093953,essv5139748,essv5039271,essv5024621,essv5070901,essv5138996,essv5125653,essv5020043,essv5010509,essv5134785,essv5160822,essv5050075,essv5080857,essv5113212,essv5107579,essv5132360,essv5115100,essv5009286,essv5024988,essv5036278,essv5061661,essv5099901,essv5141729,essv5037867,essv5035170,essv5092383,essv5047313,essv5098635,essv5079846,essv5108257,essv5130392,essv5038559,essv5075428,essv5026550,essv5022059,essv5147110,essv5060266,essv5048780,essv5159313,essv5015565,essv5144069,essv5104505,essv5138236,essv5152578,essv5030936,essv5128656,essv5094223,essv5053350,essv5065256,essv5073324,essv5078560,essv5156063,essv5006603,essv5036434,essv5060522,essv5150445,essv5049298,essv5129544,essv5099608,essv5023986,essv5151672,essv5155906,essv5156692,essv5098649,essv5016535,essv5008828,essv5014577,essv5003518,essv5147277,essv5130293,essv5124372,essv5016072,essv5019146,essv5125849,essv5154951,essv5078844,essv5160002,essv5109737,essv5090600,essv5005374,essv5080171,essv5159891,essv5148703,essv5136340,essv5007168,essv5130416,essv5066111,essv5097256,essv5033543,essv5111526,essv5012057,essv5151486,essv5012141,essv5076248,essv5083165,essv5013408,essv5017763,essv5154081,essv5078533,essv5080101,essv5058508,essv5157442,essv5053139,essv5101801,essv5142437,essv5050675,essv5046588,essv5025050,essv5011453,essv5112461,essv5055123,essv5053709,essv5055619,essv5075637,essv5058858,essv5120091,essv5049305,essv5078413,essv5106377,essv5005844,essv5135358,essv5068401,essv5115813,essv5149875,essv5015893,essv5118417,essv5088768,essv5064504,essv5032767,essv5138893,essv5137236,essv5038320,essv5123067,essv5142443,essv5027142,essv5029924,essv5113007,essv5105293,essv5131565,essv5107163,essv5070304,essv5062679,essv5120880,essv5084077,essv5009236,essv5112474,essv5106462,essv5052646,essv5014678,essv5098458,essv5145311,essv5043333,essv5146802,essv5088786,essv5137169,essv5147753,essv5100196,essv5158032,essv5058729,essv5102947,essv5018409,essv5028889,essv5014174,essv5136755,essv5070276,essv5031160,essv5054712,essv5011416,essv5107040,essv5004581,essv5043633,essv5029903,essv5134724,essv5125482,essv5143057,essv5157250,essv5132427,essv5047819,essv5127231,essv5026496,essv5018840,essv5148256,essv5126735,essv5158270,essv5056246,essv5056004,essv5144342,essv5128238,essv5148360,essv5135097,essv5011896,essv5017796,essv5155020,essv5066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M 1184 0 842 "" 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NA20755,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20769,NA20771,NA20773,NA20778,NA20783,NA20785,NA20787,NA20790,NA20795,NA20796,NA20797,NA20799,NA20800,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20810,NA20815,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20853,NA20854,NA20856,NA20859,NA20861,NA20862,NA20869,NA20872,NA20874,NA20875,NA20876,NA20881,NA20884,NA20885,NA20887,NA20892,NA20898,NA20901,NA20902,NA20906,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21091,NA21099,NA21100,NA21103,NA21107,NA21108,NA21111,NA21113,NA21115,NA21117,NA21118,NA21137,NA21141,NA21142,NA21143,NA21295,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21352,NA21353,NA21356,NA21359,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21368,NA21371,NA21378,NA21382,NA21383,NA21385,NA21386,NA21387,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21414,NA21415,NA21417,NA21418,NA21421,NA21423,NA21424,NA21425,NA21434,NA21436,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21480,NA21486,NA21488,NA21489,NA21490,NA21491,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21522,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21596,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21636,NA21648,NA21650,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21717,NA21718,NA21719,NA21722,NA21733,NA21738,NA21739,NA21741,NA21776,NA21784,NA21825,NA21826 nsv442944 1 105820728 105823898 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv27n27 1 105827431 105924364 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462962,nsv462973 M 1557 2 0 "" 1780862081_A,1780862528_A nsv462984 1 105827431 105974011 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539024 S 1557 1 0 "" 1780862202_A dgv324n71 1 105829270 106065063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872107,nsv872104,nsv872109,nsv872111,nsv872106,nsv872110,nsv872108 M 6533 0 76 "" IS31317,IS32717,IS40027,IS41771,MS10174,MS10287,MS10400,MS10499,MS11078,MS11204,MS11271,MS12202,MS12606,MS12656,MS12721,MS13358,MS13641,MS13693,MS14085,MS14516,MS15090,MS15392,MS15916,MS17537,MS17802,MS18212,MS18894,MS18929,MS20681,MS21163,MS21477,MS21973,MS22093,MS22568,MS23290,MS23356,MS24000,MS24108,MS24265,MS24423,MS24812,MS25042,MS25377,MS25471,MS25511,MS25633,MS25813,MS26120,SP50023,SP50061,SP50073,SP50177,SP50580,SP51257,SP52359,SP52386,SP53491,SP54227,SP54661,SP54682,SP55003,SP55156,SP55183,SP55279,SP55571,SP55647,SP55886,SP56173,SP56818,SP56845,SP57545,SP57817,SP58548,SP80982,SP81003,SP81266 esv2750797 1 105830601 105888503 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983411,essv6986426,essv6983412 M 771 1 0 "" BEC_651 nsv872105 1 105833927 105924364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525296 S 6533 0 1 "" SP56400 esv23901 1 105838007 105839173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18985 S 451 0 3 "" NA18517,NA18909,NA19190 nsv10495 1 105838653 105852237 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16752,nssv17421 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860 nsv872112 1 105841589 105966387 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551700 S 6533 0 1 "" MS18978 nsv821618 1 105861577 106036917 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421407 S 31 1 0 "" nsv872113 1 105868216 105924364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505537 S 6533 0 1 "" SP53687 nsv872114 1 105883977 105962974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592740 S 6533 0 1 "" IS39248 nsv872115 1 105892839 105966387 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538863,nssv1581957,nssv1589236,nssv1583243,nssv1547944,nssv1579380 M 6533 3 3 "" IS35100,IS35771,IS36364,IS38330,MS13793,MS17642 dgv325n71 1 105892839 106012019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872118,nsv872117,nsv872116 M 6533 0 5 "" IS30522,IS35229,IS39944,MS25617,SP50101 esv26439 1 105906441 105923927 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15506 S 451 1 0 "" NA18502 esv993109 1 105912220 105915478 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563745 S 3 1 0 "" HuRef nsv436782 1 105915398 105915488 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466195 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1261684 1 105915479 105915479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728857 S 2 1 0 "" HuRef dgv28n27 1 105924888 105966387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463006,nsv462995,nsv463017,nsv463028 M 1557 0 4 "" HGDP00003,HGDP00738,HGDP00963,HGDP01286 nsv10506 1 105936423 105944752 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14739 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv441704 1 105936885 105938440 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv872119 1 105937262 105980728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591628 S 6533 0 1 "" IS39011 dgv79e1 1 105946185 106025589 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12900,esv1001 M 271 0 0 "" NA18522 nsv10517 1 105951875 105954042 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18438,nssv21754,nssv16766 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA10839,NA18564,NA19007 nsv872120 1 105953543 106065063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525297 S 6533 0 1 "" SP56400 nsv517498 1 105964901 106000090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683793,nssv659568,nssv657290,nssv676098,nssv662180,nssv663113,nssv659184,nssv660815,nssv671457,nssv653352,nssv661483,nssv652191,nssv687918,nssv669737,nssv685345,nssv665031,nssv682444,nssv666639,nssv665963,nssv692107,nssv655378 M 2026 0 21 "" nsv463039 1 105965721 106005990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539070 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00780 esv22007 1 105965926 106016051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15914 S 451 0 1 "" NA19108 nsv818311 1 105966387 106000090 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417813 S 112 0 1 "" NA18852 esv2421998 1 105966387 106016552 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104039,essv5106831,essv5135393,essv5065018,essv5123801,essv5033052,essv5055847,essv5124536,essv5139606,essv5044644,essv5008035,essv5140075,essv5127345,essv5071352,essv5047288,essv5020772,essv5075375,essv5160590,essv5073059,essv5015362,essv5132558,essv5130223 M 1184 0 22 "" NA18852,NA18910,NA18911,NA19102,NA19103,NA19108,NA19109,NA19127,NA19181,NA19373,NA19374,NA19384,NA19404,NA19449,NA19708,NA20359,NA21316,NA21317,NA21318,NA21336,NA21385,NA21600 nsv513996 1 105969808 106015584 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627581 S 1414 0 1 "" nsv441705 1 105969819 106016548 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv80e1 1 105972964 106025589 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12958,essv9504,essv9292,essv11376,essv8058 M 271 0 0 "" NA18521,NA18852,NA19102,NA19103,NA19127 nsv830959 1 106021417 106209345 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448540,nssv1448551,nssv1448529 M 95 3 0 "" nsv506953 1 106079376 106085376 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619248 S 4 1 0 "" NA10860 esv26226 1 106109094 106119452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20236 S 451 0 1 "" NA19099 nsv442951 1 106110789 106116611 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513997 1 106110944 106116576 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627592 S 1414 0 1 "" esv1091477 1 106113319 106113430 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140770 S 2 0 1 "" HuRef esv268867 1 106128050 106128201 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510647,essv2493992,essv2499174 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18871,NA19114 nsv872121 1 106168053 106221399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515391 S 6533 0 1 "" SP56185 esv268069 1 106172641 106172980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518803 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv470731 1 106206562 106266489 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547761 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv433276 1 106247680 106254841 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463157 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv2243 1 106272207 106289576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4458 S 9 1 0 "" NA12878 esv26397 1 106294022 106295503 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14321 S 451 0 1 "" NA19190 esv2503034 1 106305176 106307547 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163462 S 1 0 1 "" NA18507 esv1750555 1 106305558 106305558 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963355 S 2 1 0 "" HuRef esv2521167 1 106307078 106307883 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194867 S 1 1 0 "" NA18507 esv1120470 1 106307483 106307483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246050 S 2 1 0 "" HuRef nsv520817 1 106378678 106621321 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675754,nssv697787,nssv678498,nssv701078,nssv704239 M 2026 1 4 "" esv23310 1 106536624 106537564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19323 S 451 0 1 "" NA18505 dgv326n71 1 106543804 106642297 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872123,nsv872122 M 6533 0 2 "" IS34797,IS35622 dgv81e1 1 106562085 106683105 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4947,esv583 M 271 0 0 "" NA18637 essv6473 1 106580566 106647676 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18637 esv269677 1 106590844 106591098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507136,essv2498747 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18870,NA19138 nsv872124 1 106611759 106684349 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520804 S 6533 1 0 "" SP51257 nsv10528 1 106612541 106619365 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17082 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 dgv327n71 1 106650401 106715915 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872127,nsv872126,nsv872125 M 6533 0 3 "" IS41819,IS41839,IS41955 esv2328516 1 106771039 106771499 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4581049 S 1 0 1 "" NA18507 esv1723134 1 106775419 106775419 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945825 S 2 1 0 "" HuRef nsv159515 1 106775585 106775585 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178093 M 24 "" esv27412 1 106779980 106783078 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10377 S 451 0 3 "" NA18508,NA18916,NA19257 nsv523065 1 106780559 106785646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698751 S 2026 0 1 "" esv271940 1 106820786 106820871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514197 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv2473970 1 106833839 106835262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5394122 S 1 0 1 "" NA18507 nsv830970 1 106860669 107022740 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448562 S 95 0 1 "" nsv521071 1 106893968 106902291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697768 S 2026 0 1 "" nsv463050 1 106893968 106961501 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539081 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00025 nsv872128 1 106893968 106977219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522085 S 6533 0 1 "" SP52723 nsv872129 1 106893968 107014694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554415 S 6533 0 1 "" MS20797 esv22944 1 106896738 106903868 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10292 S 451 0 1 "" NA19147 nsv872130 1 106954430 107061081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513289 S 6533 0 1 "" SP55717 nsv872131 1 106982348 107006907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508567 S 6533 0 1 "" SP54579 esv27478 1 107002850 107012779 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12392 S 451 1 0 "" NA11995 esv25280 1 107022221 107026121 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16989,esv12677 M 451 2 2 "" NA11993,NA12044,NA18508,NA18916 esv2421451 1 107023241 107025005 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5146641,essv5117849,essv5055149,essv5083123,essv5138940,essv5147806,essv5020374,essv5038216,essv5102537,essv5031118,essv5145413,essv5159327,essv5146371,essv5065240,essv5139654,essv5075170,essv5026851,essv5156402,essv5055258,essv5107186,essv5073104,essv5118793,essv5008643,essv5005991,essv5071971,essv5076260,essv5137784,essv5069880,essv5011232,essv5115825,essv5078808 M 1184 0 31 "" NA18508,NA18859,NA18870,NA18916,NA18930,NA18933,NA19118,NA19140,NA19174,NA19178,NA19181,NA19185,NA19203,NA19213,NA19247,NA19249,NA19307,NA19440,NA19446,NA19681,NA19703,NA19705,NA19770,NA19908,NA19919,NA19982,NA20289,NA20341,NA20343,NA20359,NA21300 nsv441706 1 107023241 107025005 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv513998 1 107023848 107024832 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627603 S 1414 0 1 "" nsv463062 1 107044785 107115133 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539093 S 1557 0 1 "" 1782681096_A nsv872132 1 107044785 107138531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567487 S 6533 0 1 "" IS31094 esv274867 1 107133402 107141176 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585120,essv2585900 M 1250 1 1 "" nsv2254 1 107175823 107206654 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10960 S 9 1 0 "" NA15510 nsv265 1 107175823 107206654 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv265 S 1 1 0 "" NA15510 dgv82e1 1 107285151 107642406 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv728,essv20560 M 271 0 0 NTNG1,PRMT6 NA07056 nsv518031 1 107309990 107317731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694192 S 2026 0 1 "" nsv872133 1 107330731 107386861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518738 S 6533 0 1 "" SP57973 nsv508032 1 107389010 107395010 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618504 S 4 0 1 "" CHM nsv482070 1 107400932 107403437 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558431 S 1 1 0 PRMT6 KB1 nsv830982 1 107453099 107636497 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448573 S 95 1 0 NTNG1 essv24194 1 107455508 107511243 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NTNG1 NA07056 esv27941 1 107456827 107465258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14176 S 451 0 1 "" NA12489 essv19382 1 107457382 107495258 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NTNG1 NA07019 nsv523378 1 107457879 107460385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699127 S 2026 0 1 "" esv33740 1 107458928 107464933 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101077 S 51 0 1 "" 21693 nsv508033 1 107589244 107595244 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621476 S 4 0 1 NTNG1 NA15510 nsv521184 1 107691171 107700129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685593,nssv683970 M 2026 0 2 NTNG1 nsv830993 1 107785578 107958124 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448584 S 95 1 0 NTNG1,VAV3 nsv872134 1 107832991 108199917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523045 S 6533 0 1 VAV3 SP53596 esv274367 1 107943952 107944279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579248,essv2579519 M 7 2 0 Samples from several populations that are part of the HapMap project. VAV3 NA19239,NA19240 esv267626 1 107943972 107944291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558211,essv2576051,essv2540964,essv2571652,essv2546524,essv2521178,essv2526141,essv2523007,essv2544099,essv2556722,essv2523477,essv2577456,essv2570477,essv2548513,essv2521488,essv2576593,essv2525352,essv2550300,essv2535396,essv2520525,essv2547269,essv2529196,essv2558530,essv2530799,essv2546854,essv2540037,essv2556934,essv2551659,essv2532390,essv2539153,essv2527040,essv2561373,essv2523883,essv2552938,essv2542963,essv2524610,essv2565035,essv2534583,essv2561228,essv2539695,essv2559842,essv2532469,essv2567623,essv2563579,essv2572297,essv2568858,essv2543521,essv2556225,essv2527926,essv2533912,essv2578258,essv2555341,essv2533607,essv2567109,essv2530100,essv2555986,essv2573341,essv2543269,essv2571859,essv2575371,essv2526453,essv2574555,essv2530219,essv2568585,essv2545104,essv2571231,essv2574138,essv2536088,essv2537840,essv2533273,essv2547902,essv2525184,essv2563385 M 157 73 0 Samples from several populations that are part of the HapMap project. VAV3 NA06986,NA07000,NA07051,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11931,NA11992,NA11994,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12716,NA12717,NA12749,NA12750,NA12873,NA12892,NA18489,NA18501,NA18504,NA18505,NA18519,NA18522,NA18523,NA18537,NA18542,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18570,NA18576,NA18582,NA18603,NA18609,NA18861,NA18870,NA18871,NA18907,NA18916,NA18940,NA18943,NA18944,NA18947,NA18949,NA18956,NA18964,NA18965,NA18973,NA19102,NA19114,NA19138,NA19141,NA19147,NA19172,NA19238,NA19240 nsv463073 1 107963023 107990381 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539104 S 1557 0 1 VAV3 1780854103_A nsv872135 1 107963120 107998682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565713 S 6533 0 1 VAV3 IS30508 nsv463084 1 107973826 107993450 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539115 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VAV3 HGDP00931 esv25310 1 107976915 107977853 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14701 S 451 2 0 VAV3 NA12878,NA18909 nsv831004 1 108013195 108216400 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448629,nssv1448617,nssv1448595,nssv1448640,nssv1448606,nssv1448651 M 95 6 0 VAV3 nsv523448 1 108048376 108050302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699205 S 2026 0 1 VAV3 nsv831015 1 108079886 108261551 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448662 S 95 1 0 VAV3 esv24324 1 108112593 108126983 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17715 S 451 0 1 VAV3 NA18523 nsv524680 1 108120602 108556957 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700651 S 2026 1 0 SLC25A24,VAV3 nsv823831 1 108204485 108207040 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434876,nssv1427271 M 31 0 2 VAV3 AK8,NA18942 esv24698 1 108204507 108206926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14173 S 451 0 2 VAV3 NA11995,NA12878 esv33860 1 108279128 108280105 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100815 S 51 1 0 VAV3 21656 dgv83e1 1 108420397 108898201 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8802,essv1831,essv311,essv20423,essv2820,essv22543,essv8111,essv11645,essv23070,essv22076,essv5523,essv1343,essv3113,essv18366,essv22322,essv16553,essv16102,essv19589,essv12355,essv465,essv7172,essv24260,essv11743,essv12836,essv24735,essv12190,essv10015,essv14777,essv16468,essv16960,essv11146,essv3069,essv9610,essv358,essv4697,essv7136,essv13152,essv15283,essv14504,essv10161,essv16636,essv14349,essv6654,essv6874,essv11844,essv13585,essv16829,essv22115,essv849,essv11280,essv23825,essv20997,essv6264,esv322,essv17648,essv9318,essv13861,essv24772,essv10637,essv17328,essv22506,essv23510,essv8245,essv15881,essv19912,essv13438,essv15505,essv23887,essv18594,essv21155,essv21399,essv19166,essv17191,essv15688,essv17701,essv4556,essv9693,essv15029,essv21556,essv10381,essv8320,essv18764,essv1435,essv3721,essv20338,essv22677,essv22840,essv2028,essv1174,essv20618,essv19003,essv20272,essv6613,essv16022,essv22888,essv1944,essv19292,essv16246,essv17586,essv11584,essv3218,essv2643,essv126,essv22189,essv15403,essv23244,essv9181,essv23832,essv21250,essv13519 M 271 0 0 NBPF4,NBPF6,SLC25A24 NA06985,NA06991,NA07022,NA07029,NA07034,NA07056,NA07348,NA10830,NA10838,NA10855,NA10856,NA10857,NA10860,NA11829,NA11881,NA11882,NA12004,NA12005,NA12044,NA12144,NA12154,NA12234,NA12236,NA12249,NA12740,NA12752,NA12760,NA12762,NA12763,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12873,NA12874,NA18501,NA18504,NA18505,NA18508,NA18524,NA18529,NA18537,NA18547,NA18605,NA18608,NA18621,NA18622,NA18636,NA18853,NA18854,NA18855,NA18856,NA18912,NA18913,NA18944,NA18947,NA18949,NA18951,NA18952,NA18959,NA18967,NA18968,NA18969,NA18971,NA18974,NA18976,NA18978,NA18981,NA18987,NA19000,NA19007,NA19094,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19120,NA19127,NA19128,NA19129,NA19130,NA19138,NA19139,NA19141,NA19142,NA19144,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19192,NA19194,NA19202,NA19203,NA19204,NA19205,NA19206,NA19210,NA19211,NA19221,NA19222,NA19223 nsv428179 1 108420397 108898201 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450864,nssv450875,nssv450886 M 62 3 0 NBPF4,NBPF6,SLC25A24 HGDP01088,NA18498,NA19108 nsv520953 1 108423485 108427470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697706 S 2026 0 1 "" esv29350 1 108455818 108456365 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13956 S 451 1 0 "" NA19240 esv25151 1 108457769 108459322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17650 S 451 0 1 "" NA18511 nsv517978 1 108484423 108505357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695390 S 2026 0 1 SLC25A24 nsv872136 1 108484423 108512791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591940,nssv1581110 M 6533 0 2 SLC25A24 IS35505,IS39102 nsv508459 1 108496167 108554472 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622774 S 4 0 1 SLC25A24 NA18994 esv22495 1 108497047 108498862 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11491 S 451 0 5 SLC25A24 NA12006,NA12749,NA18511,NA18517,NA19257 dgv84e1 1 108500149 108788754 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14621,essv10729 M 271 0 0 NBPF4,SLC25A24 NA18523,NA19093 esv32800 1 108505758 108505853 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100668,essv100027 M 51 0 2 SLC25A24 21656,22086 nsv2265 1 108514072 108541777 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2265,nssv6789 M 9 0 2 SLC25A24 NA12156,NA18555 esv33273 1 108516143 108525759 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98173,essv94750,essv94036,essv97354,essv93436,essv93255,essv94921,essv92579,essv96323 M 51 9 0 SLC25A24 21772,21791,21802,21879,22128,22170,22231,22233,22371 nsv526757 1 108526041 108690800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703107 S 2026 0 1 NBPF4,SLC25A24 esv32547 1 108533286 108538706 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101476,essv101131,essv100665,essv101060,essv95177,essv98288,essv94020,essv101361,essv97023,essv95465,essv95279,essv101775,essv95794,essv94547,essv99020,essv92730,essv96104,essv96687,essv98526,essv99790,essv96049,essv93458,essv93381,essv94909,essv92614,essv98049,essv96503,essv99330,essv97784,essv99485,essv94199 M 51 31 0 SLC25A24 21603,21618,21656,21693,21721,21772,21802,21805,21817,21847,21872,21909,21911,21932,21938,21944,22007,22011,22085,22086,22127,22128,22170,22231,22233,22259,22261,22275,22278,22335,22394 nsv10539 1 108533298 108539357 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17751,nssv17096,nssv19754,nssv19110,nssv17417,nssv16099,nssv17412,nssv16100,nssv15099,nssv18779,nssv15448,nssv15101,nssv16090,nssv14425,nssv22084,nssv15447,nssv18073,nssv16111 M 31 17 1 Samples from several populations that are part of the HapMap project. SLC25A24 NA10839,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18563,NA18572,NA18853,NA18860,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2498743 1 108534055 108538421 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350861 S 1 0 1 SLC25A24 NA18507 esv2623047 1 108534110 108539310 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296114 S 1 0 1 SLC25A24 NA18507 nsv820521 1 108534537 108538877 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420491 S 1 0 1 SLC25A24 NA10851 nsv823842 1 108534537 108539207 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431832 S 31 1 0 SLC25A24 AK20 esv2122744 1 108534692 108538941 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743884 S 1 0 1 SLC25A24 NA18507 nsv823853 1 108534750 108540533 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427272,nssv1428836,nssv1423136,nssv1435670,nssv1421463,nssv1440137,nssv1432263,nssv1425515,nssv1434877,nssv1438597,nssv1432852,nssv1422383,nssv1439475,nssv1436353,nssv1440825 M 31 0 15 SLC25A24 AK12,AK4,AK8,NA18537,NA18542,NA18552,NA18564,NA18566,NA18592,NA18942,NA18969,NA18972,NA18973,NA18997,NA18999 esv3739 1 108534810 108538892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26180 S 1 0 1 Single Asian sample YH SLC25A24 YH dgv5e180 1 108534817 108538783 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006134,esv1001618 M 3 1 0 SLC25A24 HuRef dgv62n67 1 108534817 108538783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823864,nsv823875 M 31 0 4 SLC25A24 AK16,NA18526,NA18570,NA18582 esv9427 1 108534832 108538827 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31868 S 1 0 1 SLC25A24 SJK nsv819227 1 108534846 108538814 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419596 S 2 1 0 SLC25A24 AK1 nsv498678 1 108534847 108538775 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585390 S 9 0 1 SLC25A24 esv21858 1 108534878 108538928 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16368 S 451 29 1 SLC25A24 NA06985,NA07045,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12489,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv433387 1 108535014 108538635 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463268 S 9 0 1 Samples from several populations that are part of the HapMap project. SLC25A24 NA18555 esv2421780 1 108535014 108539019 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084213,essv5022301,essv5039723,essv5087293,essv5148388,essv5143068,essv5018252,essv5052875,essv5060712,essv5016668,essv5054384,essv5095637,essv5160910,essv5006679,essv5152620,essv5090247,essv5043616,essv5143312,essv5148341,essv5124181,essv5025648,essv5013964,essv5147287,essv5100505,essv5089122,essv5098882,essv5046454,essv5069873,essv5148328,essv5126116,essv5143045,essv5081166,essv5132679,essv5145005,essv5133744,essv5047320,essv5032904,essv5110847,essv5102872,essv5111154,essv5095735,essv5033757,essv5010880,essv5057439,essv5049249,essv5019424,essv5100273,essv5008986,essv5111929,essv5149440,essv5018316,essv5083634,essv5028178,essv5039849,essv5035808,essv5101054,essv5002545,essv5057710,essv5022805,essv5083200,essv5085713,essv5046902,essv5048672,essv5044600,essv5070936,essv5027861,essv5016543,essv5139050,essv5058809,essv5070681,essv5083303,essv5123986,essv5153518,essv5136926,essv5018100,essv5048894,essv5044942,essv5096552,essv5157400,essv5153229,essv5013608,essv5117736,essv5095614,essv5149762,essv5059780,essv5132100,essv5135147,essv5012833,essv5137191,essv5154466,essv5053504,essv5027143,essv5055886,essv5009780,essv5107938,essv5059507,essv5036682,essv5034874,essv5124058,essv5087606,essv5011792,essv5069358,essv5088956,essv5130900,essv5102595,essv5019893,essv5029079,essv5135558,essv5127748,essv5132482,essv5041851,essv5103675,essv5046644,essv5052290,essv5101425,essv5113544,essv5018282,essv5096248,essv5039174,essv5050904,essv5032032,essv5090826,essv5055138,essv5095718,essv5073662,essv5016279,essv5101614,essv5103271,essv5132921,essv5160106,essv5033238,essv5106612,essv5062749,essv5105446,essv5058272,essv5132125,essv5047256,essv5160504,essv5144765,essv5074258,essv5109299,essv5033807,essv5018520,essv5063663,essv5082682,essv5139114,essv5039936,essv5029109,essv5072825,essv5128298,essv5087255,essv5094683,essv5004481,essv5066460,essv5004012,essv5077559,essv5100951,essv5010863,essv5116807,essv5150934,essv5157480,essv5148223,essv5010906,essv5109164,essv5149780,essv5041420,essv5103936,essv5124049,essv5148711,essv5095062,essv5004465,essv5131649,essv5056264,essv5152616,essv5020030,essv5001919,essv5018598,essv5143447,essv5122157,essv5075555,essv5009428,essv5150135,essv5034206,essv5004916,essv5078261,essv5003838,essv5137278,essv5159045,essv5145792,essv5113366,essv5029610,essv5107060,essv5081637,essv5040198,essv5121590,essv5088565,essv5043620,essv5071752,essv5019004,essv5079209,essv5133411,essv5122131,essv5110687,essv5153546,essv5065903,essv5081633,essv5138185,essv5097215,essv5037901,essv5101088,essv5058439,essv5078199,essv5084950,essv5017919,essv5090371,essv5049591,essv5042436,essv5100821,essv5012017,essv5116414,essv5085906,essv5115596,essv5105156,essv5115018,essv5106227,essv5149215,essv5115241,essv5140680,essv5035760,essv5015611,essv5076760,essv5054354,essv5154786,essv5013741,essv5143559,essv5070485,essv5042860,essv5027589,essv5033857,essv5054958,essv5156312,essv5120385,essv5073509,essv5003192,essv5014099,essv5129451,essv5006771,essv5094502,essv5068508,essv5053622,essv5151226,essv5034102,essv5134523,essv5123581,essv5154516,essv5065297,essv5159486,essv5016779,essv5011628,essv5127411,essv5139283,essv5121365,essv5019488,essv5104081,essv5065148,essv5152935,essv5102127,essv5019899,essv5139708,essv5044993,essv5022483,essv5047441,essv5049858,essv5107562,essv5060393,essv5036360,essv5034178,essv5079133,essv5015522,essv5073541,essv5116944,essv5076808,essv5053041,essv5157972,essv5109724,essv5135350,essv5157704,essv5112154,essv5026226,essv5073121,essv5123001,essv5137172,essv5076562,essv5158712,essv5010597,essv5087325,essv5100685,essv5128572,essv5030826,essv5086648,essv5004508,essv5137912,essv5154236,essv5109681,essv5101921,essv5036650,essv5133770,essv5053916,essv5053057,essv5103862,essv5045972,essv5013815,essv5094904,essv5152975,essv5099398,essv5057210,essv5102860,essv5079002,essv5054831,essv5120340,essv5009427,essv5114242,essv5059982,essv5100038,essv5083726,essv5003099,essv5027486,essv5118053,essv5054957,essv5139223,essv5012367,essv5061207,essv5097912,essv5117044,essv5060998,essv5048743,essv5076571,essv5023662,essv5007560,essv5015641,essv5023660,essv5160467,essv5036047,essv5154128,essv5102509,essv5138788,essv5087498,essv5103986,essv5092644,essv5106430,essv5116495,essv5120200,essv5154385,essv5039167,essv5152774,essv5098251,essv5051550,essv5160401,essv5134367,essv5159849,essv5112772,essv5157246,essv5105066,essv5090893,essv5148998,essv5093306,essv5155574,essv5130733,essv5082076,essv5072668,essv5090860,essv5095160,essv5101981,essv5015697,essv5094503,essv5064823,essv5103223,essv5042345,essv5089374,essv5124892,essv5070549,essv5116551,essv5155466,essv5158969,essv5033771,essv5123829,essv5111013,essv5067225,essv5143520,essv5156733,essv5075909,essv5038932,essv5118486,essv5098318,essv5151526,essv5016156,essv5123904,essv5079515,essv5104830,essv5013588,essv5119091,essv5115861,essv5121257,essv5092987,essv5015301,essv5122030,essv5158229,essv5083189,essv5073818,essv5154863,essv5039808,essv5078540,essv5075327,essv5153609,essv5096493,essv5039001,essv5053763,essv5116976,essv5065056,essv5025583,essv5135318,essv5091894,essv5136386,essv5054004,essv5013482,essv5150917,essv5077099,essv5021063,essv5110938,essv5064482,essv5151620,essv5092597,essv5052834,essv5064873,essv5120028,essv5043112,essv5105621,essv5081887,essv5122260,essv5091970,essv5159450,essv5042464,essv5127832,essv5123246,essv5138164,essv5046854,essv5054666,essv5098019,essv5024273,essv5117230,essv5102143,essv5041203,essv5103777,essv5128987,essv5125919,essv5118986,essv5109745,essv5058701,essv5099629,essv5004071,essv5047097,essv5154601,essv5123753,essv5033009,essv5098382,essv5119249,essv5153912,essv5139263,essv5052923,essv5045038,essv5072035,essv5127439,essv5068522,essv5155442,essv5018579,essv5152153 M 1184 0 476 SLC25A24 NA06984,NA06993,NA07000,NA07014,NA07029,NA07031,NA07037,NA07051,NA07055,NA07345,NA07346,NA07347,NA07348,NA07357,NA10830,NA10831,NA10835,NA10843,NA10845,NA10847,NA10850,NA10853,NA10861,NA10863,NA10864,NA10865,NA11830,NA11891,NA11893,NA11894,NA11918,NA11919,NA11920,NA11931,NA11994,NA12003,NA12005,NA12056,NA12057,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12272,NA12282,NA12283,NA12336,NA12340,NA12342,NA12343,NA12383,NA12386,NA12399,NA12400,NA12546,NA12708,NA12716,NA12718,NA12748,NA12750,NA12753,NA12762,NA12763,NA12777,NA12801,NA12812,NA12814,NA12817,NA12827,NA12828,NA12829,NA12865,NA12874,NA12877,NA12878,NA12889,NA12890,NA12892,NA17965,NA17966,NA17968,NA17969,NA17970,NA17972,NA17976,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18107,NA18108,NA18109,NA18112,NA18118,NA18120,NA18122,NA18125,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18140,NA18144,NA18147,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18158,NA18159,NA18161,NA18162,NA18166,NA18486,NA18497,NA18499,NA18506,NA18507,NA18526,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18558,NA18559,NA18562,NA18563,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18599,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18613,NA18614,NA18615,NA18616,NA18618,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18636,NA18637,NA18638,NA18639,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18694,NA18702,NA18740,NA18745,NA18748,NA18749,NA18757,NA18862,NA18867,NA18868,NA18869,NA18909,NA18913,NA18914,NA18917,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18948,NA18952,NA18953,NA18954,NA18955,NA18960,NA18962,NA18964,NA18966,NA18967,NA18969,NA18970,NA18972,NA18973,NA18974,NA18975,NA18977,NA18978,NA18979,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19001,NA19002,NA19005,NA19009,NA19010,NA19044,NA19046,NA19054,NA19056,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19070,NA19074,NA19076,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19087,NA19113,NA19115,NA19152,NA19154,NA19179,NA19182,NA19190,NA19191,NA19207,NA19208,NA19239,NA19248,NA19249,NA19308,NA19315,NA19316,NA19317,NA19328,NA19372,NA19383,NA19404,NA19445,NA19466,NA19467,NA19470,NA19474,NA19649,NA19651,NA19653,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19665,NA19669,NA19671,NA19675,NA19676,NA19678,NA19679,NA19680,NA19684,NA19686,NA19700,NA19713,NA19714,NA19716,NA19718,NA19722,NA19724,NA19725,NA19726,NA19747,NA19749,NA19750,NA19751,NA19755,NA19756,NA19761,NA19762,NA19763,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19782,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19796,NA19914,NA19983,NA20126,NA20279,NA20282,NA20287,NA20288,NA20294,NA20301,NA20344,NA20345,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20512,NA20516,NA20518,NA20527,NA20530,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20761,NA20768,NA20771,NA20775,NA20785,NA20799,NA20802,NA20804,NA20805,NA20807,NA20808,NA20809,NA20812,NA20815,NA20845,NA20846,NA20849,NA20852,NA20853,NA20856,NA20859,NA20861,NA20866,NA20870,NA20873,NA20877,NA20879,NA20882,NA20883,NA20885,NA20887,NA20888,NA20889,NA20891,NA20894,NA20896,NA20897,NA20900,NA20903,NA20907,NA20909,NA20910,NA20911,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21103,NA21104,NA21105,NA21106,NA21107,NA21109,NA21111,NA21113,NA21115,NA21116,NA21117,NA21119,NA21123,NA21144,NA21308,NA21336,NA21371,NA21379,NA21381,NA21383,NA21388,NA21391,NA21447,NA21478,NA21480,NA21485,NA21487,NA21512,NA21514,NA21519,NA21529,NA21576,NA21597,NA21617,NA21635,NA21678,NA21683,NA21738 nsv513999 1 108535176 108538816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627614 S 1414 0 1 SLC25A24 nsv442958 1 108535758 108539019 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC25A24 esv23343 1 108561994 108898831 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13251,esv18355,esv11547,esv10264 M 451 33 3 NBPF4,NBPF6 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv10550 1 108574141 108575019 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14737,nssv18081 M 31 0 2 Samples from several populations that are part of the HapMap project. NBPF4 NA11830,NA18860 nsv821352 1 108579288 108656868 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420502 S 1 0 1 NBPF4 NA10851 nsv10561 1 108590638 108602669 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17742 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 dgv85e1 1 108593906 108898201 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7803,essv19434 M 271 0 0 NBPF6 NA11840,NA18558 nsv10572 1 108604345 108654808 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16441,nssv15442,nssv22433,nssv16755,nssv18768,nssv14405,nssv15422,nssv15431,nssv19109,nssv16420,nssv19440,nssv15756,nssv15778,nssv18433,nssv16430,nssv17426,nssv16434,nssv22414,nssv15429,nssv20084,nssv15097,nssv15752 M 31 21 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18564,NA18853,NA18942,NA18972,NA18975,NA19007,NA19144,NA19173,NA19221,NA19240 nsv7180 1 108619360 108728242 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6796 S 9 0 0 "" NA12156 nsv510903 1 108636593 108746075 OTHER Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621653,nssv624360 M 4 0 0 "" NA15510,NA18994 nsv499749 1 108647002 108727871 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585488 S 9 0 0 "" nsv463095 1 108655689 108690800 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539126 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00116 nsv2276 1 108681567 108812677 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10182,nssv5761 M 9 0 2 NBPF6 NA18956,NA19129 nsv872137 1 108691885 108843307 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592578 S 6533 1 0 NBPF6 IS39243 nsv821488 1 108714654 108815961 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420514 S 1 0 1 NBPF6 NA10851 nsv498679 1 108722664 108797155 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585391 S 9 0 1 NBPF6 nsv10583 1 108726961 108778323 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19439,nssv15761,nssv14735,nssv16760,nssv15772,nssv15759,nssv20414,nssv19770,nssv16750,nssv16412,nssv18763,nssv15427,nssv16764,nssv17756,nssv16771,nssv17085,nssv19098,nssv16086,nssv16082,nssv16108,nssv22761,nssv22742 M 31 21 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18564,NA18853,NA18942,NA18972,NA18975,NA19007,NA19144,NA19173,NA19221,NA19240 nsv823886 1 108727636 108815961 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423137 S 31 1 0 NBPF6 NA18999 nsv514911 1 108727832 108778776 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628453 S 1414 0 0 "" nsv441707 1 108729983 108787720 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv10594 1 108779449 108792237 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18072 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv10606 1 108807612 108808491 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15757,nssv18441 M 31 0 2 Samples from several populations that are part of the HapMap project. NBPF6 NA11830,NA18860 esv1030322 1 108826536 108827814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641112 S 2 0 1 "" HuRef esv1009643 1 108919426 108925313 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564589 S 3 0 1 FAM102B HuRef esv1151090 1 109020100 109020100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963317 S 2 1 0 "" HuRef nsv823897 1 109022955 109024181 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433434 S 31 0 1 "" NA18526 esv1488051 1 109033755 109033755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345281 S 2 1 0 "" HuRef esv1070190 1 109116132 109116184 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679771 S 2 0 1 STXBP3 HuRef nsv823908 1 109137950 109138550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428039,nssv1429573 M 31 0 2 STXBP3 AK10,AK14 nsv2287 1 109142222 109184766 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2274 S 9 0 1 AKNAD1,STXBP3 NA18555 esv29430 1 109150446 109151653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15955 S 451 0 1 STXBP3 NA12004 nsv463106 1 109157885 109173397 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539136 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKNAD1 HGDP01275 nsv526819 1 109167809 109178806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703173 S 2026 0 1 AKNAD1 nsv521427 1 109168077 109173397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698036 S 2026 0 1 AKNAD1 dgv63n67 1 109168508 109173417 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823921,nsv823932 M 31 0 2 AKNAD1 AK10,NA18951 esv7631 1 109168510 109173484 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30072 S 1 0 1 AKNAD1 SJK esv26096 1 109168559 109173476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16465 S 451 0 1 AKNAD1 NA12004 esv2421353 1 109169467 109173397 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085376,essv5126334,essv5085169,essv5019909,essv5160489,essv5020970,essv5054891,essv5159865,essv5117030,essv5132222,essv5089797,essv5134466,essv5043964,essv5115093,essv5006830,essv5014428,essv5112275,essv5160836,essv5065722,essv5146529,essv5007791,essv5103096,essv5126251,essv5096612,essv5135718,essv5045867,essv5012533,essv5067223,essv5041592,essv5110533,essv5076144,essv5021635,essv5140942,essv5129397,essv5101247,essv5060213,essv5102638,essv5037530,essv5056413,essv5114431,essv5057298,essv5100325,essv5012106,essv5105960,essv5100902,essv5154353,essv5112457,essv5134372,essv5142201,essv5032395,essv5117907,essv5096435,essv5105605,essv5129649,essv5031138,essv5112507,essv5134063,essv5071228,essv5094933,essv5095799,essv5066389,essv5051151,essv5061750,essv5094406,essv5048979,essv5130854,essv5021695,essv5057130,essv5048262,essv5016478,essv5066928,essv5036854,essv5068783,essv5032714,essv5153003,essv5071026,essv5069040,essv5152397,essv5008516,essv5094962,essv5033962 M 1184 0 81 AKNAD1 NA10838,NA10843,NA11919,NA17969,NA18132,NA18134,NA18149,NA18157,NA18555,NA18559,NA18563,NA18570,NA18573,NA18610,NA18616,NA18618,NA18624,NA18626,NA18643,NA18674,NA18685,NA18704,NA18748,NA18940,NA18944,NA18951,NA18961,NA18962,NA18970,NA18978,NA18987,NA18995,NA18998,NA19009,NA19010,NA19044,NA19054,NA19065,NA19068,NA19075,NA19079,NA19080,NA19081,NA19084,NA19085,NA19086,NA19651,NA19653,NA19656,NA19725,NA19726,NA19727,NA19755,NA20539,NA20765,NA20772,NA20792,NA20804,NA20862,NA20898,NA20910,NA21086,NA21101,NA21103,NA21115,NA21142,NA21307,NA21309,NA21312,NA21365,NA21366,NA21370,NA21435,NA21440,NA21453,NA21455,NA21457,NA21617,NA21683,NA21693,NA21825 nsv463117 1 109169467 109173397 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539147 S 1557 0 1 AKNAD1 1780854202_A nsv818322 1 109169467 109173397 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417609 S 112 0 1 AKNAD1 NA18978 nsv517381 1 109169467 109187989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706005,nssv675068,nssv668838,nssv677315,nssv668325,nssv687426,nssv654981,nssv655959,nssv654880,nssv685328,nssv659552,nssv684418,nssv667589,nssv680529,nssv680313,nssv669266,nssv699178,nssv688606,nssv686059,nssv654796,nssv677839,nssv677956,nssv692506,nssv693128,nssv691765,nssv651861,nssv678932 M 2026 0 27 AKNAD1 nsv823943 1 109171321 109173417 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434183 S 31 0 1 AKNAD1 NA18570 dgv15n21 1 109217748 109285290 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527447,nsv517523 M 2026 6 0 CLCC1,GPSM2 nsv831026 1 109268856 109463759 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448673,nssv1448684,nssv1448695 M 95 0 3 C1orf194,CLCC1,GPSM2,KIAA1324,SCARNA2,TAF13,TMEM167B,WDR47 nsv526049 1 109274577 109285498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702286 S 2026 0 1 CLCC1 nsv437236 1 109297398 109321084 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467117 S 60 0 1 Samples from several populations that are part of the HapMap project. CLCC1,WDR47 NA18860 esv24963 1 109298220 109302661 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13669 S 451 0 2 CLCC1 NA18502,NA19114 nsv441708 1 109298377 109299668 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CLCC1 esv2421924 1 109298377 109301962 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5141923,essv5134461,essv5121989,essv5112787,essv5126042,essv5012665,essv5031754,essv5030596,essv5114864,essv5076648,essv5118813,essv5097069,essv5084539,essv5070001,essv5072383,essv5114655,essv5149309,essv5027608,essv5100549,essv5086870,essv5117716,essv5137774,essv5003675,essv5138068,essv5060221,essv5070949,essv5083931,essv5039568,essv5103536,essv5035709,essv5128713,essv5015142,essv5098871,essv5086928,essv5138698,essv5023576,essv5072581,essv5153621,essv5144688,essv5107387,essv5049813,essv5079558,essv5114744,essv5099429,essv5026934,essv5114686,essv5122171,essv5096607,essv5109377,essv5131746,essv5079512,essv5017236,essv5071746,essv5136531,essv5052229,essv5114198,essv5121724,essv5038023,essv5003889,essv5074040,essv5074948,essv5159876,essv5033590,essv5018396,essv5043612,essv5005380,essv5092640,essv5049352 M 1184 0 68 CLCC1 NA18859,NA18860,NA18871,NA18872,NA18934,NA18935,NA19035,NA19041,NA19114,NA19118,NA19122,NA19123,NA19137,NA19138,NA19139,NA19174,NA19175,NA19176,NA19209,NA19210,NA19211,NA19256,NA19258,NA19307,NA19328,NA19375,NA19403,NA19430,NA19436,NA19438,NA19440,NA19443,NA19446,NA19470,NA19474,NA19700,NA19702,NA19819,NA19828,NA19904,NA19916,NA19918,NA20287,NA20288,NA20289,NA20332,NA20333,NA20341,NA20345,NA20348,NA21311,NA21312,NA21313,NA21314,NA21320,NA21359,NA21361,NA21382,NA21383,NA21423,NA21438,NA21439,NA21447,NA21479,NA21648,NA21678,NA21685,NA21686 nsv514000 1 109298688 109299640 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627626 S 1414 0 1 CLCC1 esv32817 1 109370160 109380182 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101572,essv98912,essv100900,essv96826,essv101016,essv94761,essv94136,essv101340,essv94341,essv97854,essv94640,essv92985,essv96225,essv96618,essv98648,essv99755,essv93428,essv93353,essv92654,essv97644,essv100203,essv96309 M 51 0 22 WDR47 21603,21606,21656,21659,21693,21791,21802,21805,21808,21837,21932,21939,22007,22011,22085,22086,22128,22170,22233,22278,22286,22371 nsv823954 1 109373301 109376884 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426404 S 31 0 1 WDR47 AK6 dgv64n67 1 109374538 109376884 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823965,nsv823976 M 31 0 10 WDR47 AK16,AK18,AK4,NA18564,NA18570,NA18942,NA18949,NA18951,NA18968,NA18997 nsv823987 1 109374538 109379575 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437752 S 31 0 1 WDR47 NA18547 esv2798 1 109374706 109376814 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25239 S 1 0 1 Single Asian sample YH WDR47 YH esv27754 1 109374784 109377082 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9821,esv17007 M 451 0 12 WDR47 NA11995,NA12004,NA12006,NA12287,NA12414,NA12749,NA12828,NA12878,NA18517,NA18909,NA19099,NA19190 esv6041 1 109399237 109399581 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28482 S 1 0 1 "" SJK esv1198206 1 109399250 109399581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623261 S 2 0 1 "" HuRef nsv159041 1 109399251 109399581 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177619 M 24 "" nsv463128 1 109486796 109521908 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539158 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1324 HGDP00899 esv2750798 1 109490837 109556481 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989844,essv6983714,essv6983715,essv6983716 M 771 0 1 KIAA1324 BEC_617 esv259607 1 109500572 109500902 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394380 S 6 0 0 Samples from several populations that are part of the HapMap project. KIAA1324 NA19240 nsv520456 1 109528945 109540594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697432 S 2026 0 1 KIAA1324 nsv470732 1 109583560 109620053 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547762 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CELSR2 HGDP00657 nsv517354 1 109583560 109627659 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692955,nssv651803,nssv704995,nssv680952,nssv682218,nssv700364,nssv688318,nssv674153,nssv704812 M 2026 0 9 CELSR2,PSRC1 dgv328n71 1 109585078 109619361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872138,nsv872139 M 6533 0 2 CELSR2 SP54956,SP54988 esv993086 1 109598393 109607367 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565149 S 3 0 1 CELSR2 HuRef nsv872140 1 109610312 109619361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509311 S 6533 0 1 CELSR2 SP54782 nsv872141 1 109805098 109848856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509756 S 6533 0 1 ATXN7L2,CYB561D1,SYPL2 SP54956 nsv506954 1 109862313 109868313 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623282 S 4 1 0 "" NA18994 nsv510951 1 109953419 110036983 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618666 S 4 0 0 AMPD2,GNAT2,GSTM1,GSTM2,GSTM4 CHM nsv2299 1 109954441 110006486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5763,nssv10184,nssv7442,nssv2298,nssv4469 M 9 0 5 AMPD2,GNAT2,GSTM4 NA12156,NA12878,NA18555,NA18956,NA19129 nsv872142 1 109958887 110014981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543364 S 6533 0 1 AMPD2,GSTM2,GSTM4 MS16153 esv2612642 1 109987899 109993483 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377552 S 1 0 1 "" NA18507 nsv436300 1 109988334 109993086 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466206 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv820656 1 109988369 109994137 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420525 S 1 0 1 "" NA10851 esv25172 1 109988369 110060631 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10506,esv14035,esv13941,esv15769,esv16117,esv19304 M 451 28 10 GSTM1,GSTM2,GSTM4,GSTM5 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12878,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv820059 1 109988386 109989689 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419229 S 2 0 1 "" AK1 dgv65n67 1 109988565 109989745 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824009,nsv824020,nsv823998 M 31 0 4 "" AK10,AK14,AK20,AK4 esv989149 1 109988565 109990211 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587118 S 3 0 1 "" HuRef nsv824032 1 109988565 109990211 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428837,nssv1440139,nssv1424758,nssv1432963,nssv1437238,nssv1421466,nssv1438598,nssv1439476 M 31 0 8 "" AK12,AK2,NA18537,NA18564,NA18592,NA18949,NA18973,NA18997 nsv824043 1 109988565 109994137 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427275,nssv1435671 M 31 1 1 "" AK8,NA18566 nsv511709 1 109988614 109993092 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626350 S 1 0 1 "" 1 nsv498680 1 109988686 109992945 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585392 S 9 0 1 "" nsv160749 1 109988741 109992972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179327 M 24 "" esv1011131 1 109988742 109992766 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565533 S 3 0 1 "" HuRef nsv514001 1 109988744 109990056 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627637 S 1414 1 0 "" esv1001412 1 109988760 109992645 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586568 S 3 0 1 "" HuRef esv33954 1 109988772 109990027 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101593,essv101137,essv94116,essv101387,essv95380,essv101696,essv94515,essv99037,essv93672,essv96112,essv97092,essv95979,essv99641,essv94891,essv92650,essv98000,essv99276,essv97659,essv100193 M 51 8 11 "" 21603,21618,21802,21805,21872,21909,21932,21938,21972,22007,22075,22127,22217,22231,22233,22259,22275,22278,22286 nsv824054 1 109989509 109990211 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428043 S 31 0 1 "" AK10 nsv824065 1 109989666 109994137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429576 S 31 0 1 "" AK14 nsv872143 1 110011429 110093765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501477 S 6533 0 1 GSTM1,GSTM2,GSTM3,GSTM5 SP51043 nsv482081 1 110012167 110028141 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558442 S 1 1 0 GSTM2 KB1 nsv820548 1 110015455 110047109 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420536 S 1 0 1 GSTM1,GSTM2 NA10851 nsv824076 1 110015455 110047109 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435672,nssv1427276,nssv1423139,nssv1423629,nssv1440826,nssv1426405 M 31 0 6 GSTM1,GSTM2 AK6,AK8,NA18566,NA18968,NA18969,NA18999 esv1003982 1 110016676 110061673 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564905 S 3 0 1 GSTM1,GSTM2,GSTM5 HuRef esv998761 1 110018063 110046129 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586513 S 3 1 0 GSTM1,GSTM2 HuRef nsv2310 1 110018442 110062181 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6805,nssv5773,nssv9560,nssv10189,nssv10968,nssv4479,nssv2307 M 9 0 7 GSTM1,GSTM2,GSTM5 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129 nsv508471 1 110018524 110036983 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620139,nssv618981 M 4 0 2 GSTM1,GSTM2 NA10860,NA15510 nsv10617 1 110018803 110059234 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16102,nssv20099,nssv18771,nssv17090,nssv17094,nssv16426,nssv17415,nssv16432,nssv16083,nssv19769,nssv23389,nssv16742,nssv17745,nssv18432,nssv21074,nssv17072,nssv14755,nssv23079,nssv16429,nssv15753,nssv17410,nssv20744,nssv15095,nssv17747,nssv17740,nssv16438,nssv17080,nssv23699,nssv15777,nssv17101,nssv17402,nssv20100 M 31 21 0 Samples from several populations that are part of the HapMap project. GSTM1,GSTM2,GSTM5 NA07029,NA07048,NA10847,NA12802,NA18502,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 dgv329n71 1 110023029 110056697 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872144,nsv872145 M 6533 15 0 GSTM1,GSTM2,GSTM5 SP50535,SP50857,SP52124,SP52455,SP53791,SP55034,SP55547,SP56828,SP56842,SP56849,SP57376,SP57453,SP57599,SP57921,SP81009 nsv824087 1 110023068 110041912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430362 S 31 0 1 GSTM1,GSTM2 AK16 dgv6e180 1 110023068 110044476 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003434,esv1004094 M 3 1 0 GSTM1,GSTM2 HuRef nsv2321 1 110023298 110030979 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1309 S 9 1 0 GSTM2 NA19240 nsv514002 1 110023824 110044456 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627648 S 1414 1 0 GSTM1,GSTM2 nsv276 1 110025520 110054404 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv276 S 1 0 1 GSTM1,GSTM2 NA15510 esv2421364 1 110025907 110044476 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057473,essv5068502,essv5157312,essv5031888,essv5014816,essv5010590,essv5014600,essv5047881,essv5094020,essv5078248,essv5054091,essv5114701,essv5142082,essv5126887,essv5049118,essv5062917,essv5020434,essv5058724,essv5116695,essv5114282,essv5114391,essv5020548,essv5115431,essv5026448,essv5002457,essv5045383,essv5078877,essv5077566,essv5094182,essv5074275,essv5147026,essv5099838,essv5082674,essv5037430,essv5080507,essv5068423,essv5142900,essv5124953,essv5082372,essv5075430,essv5027495,essv5043551,essv5089259,essv5079813,essv5095168,essv5067200,essv5117177,essv5053773,essv5085749,essv5109920,essv5130873,essv5031909,essv5105958,essv5094422,essv5106129,essv5001906,essv5123449,essv5129872,essv5088809,essv5116828,essv5144685,essv5052612,essv5057116,essv5139544,essv5081579,essv5039371,essv5016665,essv5153970,essv5015051,essv5038787,essv5030769,essv5120922,essv5068985,essv5095935,essv5103440,essv5081529,essv5009698,essv5080479,essv5156095,essv5057296,essv5140006,essv5073651,essv5028014,essv5038499,essv5047821,essv5040803,essv5063764,essv5027597,essv5040972,essv5100566,essv5124205,essv5027132,essv5070464,essv5149448,essv5086128,essv5045238,essv5153362,essv5008713,essv5144388,essv5037600,essv5006621,essv5134016,essv5090331,essv5005642,essv5073218,essv5040355,essv5041530,essv5149116,essv5084782,essv5082206,essv5027497,essv5139973,essv5036071,essv5128164,essv5151129,essv5115143,essv5042885,essv5096770,essv5075649,essv5098094,essv5138989,essv5120819,essv5024426,essv5095433,essv5036539,essv5010486,essv5035909,essv5114628,essv5065200,essv5016947,essv5126399,essv5025831,essv5047884,essv5150638,essv5021977,essv5018352,essv5099255,essv5102298,essv5037546,essv5160483,essv5104515,essv5027377,essv5058736,essv5119016,essv5043475,essv5073758,essv5093368,essv5064513,essv5120258,essv5136836,essv5135078,essv5039107,essv5148175,essv5121164,essv5143008,essv5135550,essv5012425,essv5151071,essv5086869,essv5105510,essv5014837,essv5143529,essv5129901,essv5129499,essv5130444,essv5089525,essv5009350,essv5160832,essv5058666,essv5115186,essv5035126,essv5096706,essv5050842,essv5109945,essv5032632,essv5019632,essv5021718,essv5052555,essv5090036,essv5127130,essv5131439,essv5004897,essv5023394,essv5110282,essv5098124,essv5101531,essv5073970,essv5147854,essv5038844,essv5120082,essv5083300,essv5094469,essv5135834,essv5057699,essv5150632,essv5019795,essv5103699,essv5085526,essv5066775,essv5076078,essv5025586,essv5121124,essv5095548,essv5089994,essv5123856,essv5148889,essv5007847,essv5103262,essv5021157,essv5156397,essv5048385,essv5005957,essv5052447,essv5015759,essv5121091,essv5064327,essv5157658,essv5106869,essv5029461,essv5017937,essv5122942,essv5012177,essv5069419,essv5159595,essv5085204,essv5062101,essv5081587,essv5067132,essv5057875,essv5070504,essv5032703,essv5021071,essv5004104,essv5130182,essv5145397,essv5053181,essv5129243,essv5109658,essv5094725,essv5015363,essv5043269,essv5057499,essv5146707,essv5142816,essv5039216,essv5147113,essv5141154,essv5036122,essv5040901,essv5069031,essv5136957,essv5026862,essv5089906,essv5160603,essv5129821,essv5082329,essv5119036,essv5011715,essv5066387,essv5146557,essv5050177,essv5156708,essv5096328,essv5149213,essv5113029,essv5032364,essv5107140,essv5030964,essv5131706,essv5041383,essv5108620,essv5094418,essv5077213,essv5094224,essv5069739,essv5121530,essv5155368,essv5083808,essv5133046,essv5103951,essv5128456,essv5110192,essv5068648,essv5086687,essv5057396,essv5042769,essv5037156,essv5102848,essv5037092,essv5029830,essv5016442,essv5015251,essv5096720,essv5068524,essv5142895,essv5007452,essv5073057,essv5066758,essv5007844,essv5100945,essv5096914,essv5029317,essv5031494,essv5055951,essv5075730,essv5097821,essv5033567,essv5036937,essv5122523,essv5003352,essv5019892,essv5146717,essv5101816,essv5154525,essv5010175,essv5038785,essv5148221,essv5156964,essv5122363,essv5086110,essv5096858,essv5143469,essv5040451,essv5098530,essv5054026,essv5067745,essv5038128,essv5042209,essv5147902,essv5008738,essv5044933,essv5117301,essv5113620,essv5130454,essv5121207,essv5106320,essv5157306,essv5014782,essv5158515,essv5117708,essv5033068,essv5141884,essv5044759,essv5148484,essv5033542,essv5022473,essv5101216,essv5067502,essv5031146,essv5031404,essv5006581,essv5134665,essv5015184,essv5057421,essv5006367,essv5100198,essv5057995,essv5050204,essv5076232,essv5007058,essv5104545,essv5042114,essv5005763,essv5121844,essv5078112,essv5034285,essv5052065,essv5132884,essv5017419,essv5105756,essv5062977,essv5091801,essv5054884,essv5160844,essv5094893,essv5080347,essv5147696,essv5120508,essv5006939,essv5102281,essv5037871,essv5064537,essv5079321,essv5139473,essv5061313,essv5053893,essv5079038,essv5024159,essv5141153,essv5105406,essv5073377,essv5017481,essv5133555,essv5142040,essv5128874,essv5113054,essv5122071,essv5081357,essv5081863,essv5094866,essv5116089,essv5048432,essv5086478,essv5151873,essv5077314,essv5058546,essv5107410,essv5103834,essv5120543,essv5158806,essv5135826,essv5138976,essv5031897,essv5036027,essv5085639,essv5019110,essv5096048,essv5075921,essv5070663,essv5116429,essv5017356,essv5042218,essv5017846,essv5102335,essv5146419,essv5134921,essv5107700,essv5063077,essv5097488,essv5100668,essv5062297,essv5122927,essv5121449,essv5149562,essv5069654,essv5083954,essv5137803,essv5079346,essv5086012,essv5116941,essv5128418,essv5050480,essv5132843,essv5127213,essv5094069,essv5158818,essv5156133,essv5105261,essv5020361,essv5014443,essv5015629,essv5059867,essv5157060,essv5073342,essv5150935,essv5006457,essv5057868,essv5154073,essv5094149,essv5021093,essv5065921,essv5032630,essv5077992,essv5127072,essv5069194,essv5132066,essv5002751,essv5043513,essv5160421,essv5115137,essv5054200,essv5076811,essv5027005,essv5064615,essv5041213,essv5039022,essv5003720,essv5092424,essv5031961,essv5136323,essv5065416,essv5135352,essv5063928,essv5049426,essv5072489,essv5153838,essv5159054,essv5055075,essv5134437,essv5019958,essv5007092,essv5098905,essv5068547,essv5050430,essv5140613,essv5119027,essv5020787,essv5131751,essv5135608,essv5033671,essv5146012,essv5145968,essv5022238,essv5154722,essv5079969,essv5159787,essv5054707,essv5059071,essv5007545,essv5008835,essv5049745,essv5028780,essv5143954,essv5052649,essv5109757,essv5054749,essv5147994,essv5134786,essv5085570,essv5065640,essv5026520,essv5029014,essv5156370,essv5103004,essv5095408,essv5125664,essv5104540,essv5066933,essv5076343,essv5107175,essv5159274,essv5035500,essv5036402,essv5040713,essv5013227,essv5038909,essv5021679,essv5099772,essv5152285,essv5121747,essv5111938,essv5039697,essv5160666,essv5018097,essv5030985,essv5077521,essv5007707,essv5049498,essv5042155,essv5156912,essv5134754,essv5154963,essv5110290,essv5024914,essv5113936,essv5160459,essv5006327,essv5152205,essv5124148,essv5070757,essv5058010,essv5042585,essv5042982,essv5049106,essv5062976,essv5129409,essv5152899,essv5031948,essv5055333,essv5012172,essv5099077,essv5082795,essv5108073,essv5043833,essv5156763,essv5025391,essv5002759,essv5157928,essv5054933,essv5147007,essv5075534,essv5111770,essv5134723,essv5066501,essv5063635,essv5096547,essv5010970,essv5050061,essv5129203,essv5024564,essv5097284,essv5069186,essv5136280,essv5008921,essv5028558,essv5113795,essv5054335,essv5160724,essv5147737,essv5150502,essv5065225,essv5072792,essv5117381,essv5048612,essv5136642,essv5087791,essv5076706,essv5085856,essv5065568,essv5066953,essv5091792,essv5145383,essv5044417,essv5083924,essv5012146,essv5060548,essv5034040,essv5079830,essv5100002,essv5041531,essv5050066,essv5028838,essv5102985,essv5145809,essv5026331,essv5057872,essv5043907,essv5094340,essv5047418,essv5021659,essv5045827,essv5143155,essv5136991,essv5150587,essv5137488,essv5059054,essv5029418,essv5019217,essv5046583,essv5118928,essv5061141,essv5069616,essv5152722,essv5068092,essv5092761,essv5122087,essv5122969,essv5060215,essv5012612,essv5063702,essv5053906,essv5117898 M 1184 200 452 GSTM1,GSTM2 NA06986,NA06989,NA06991,NA06993,NA06995,NA06997,NA07000,NA07022,NA07031,NA07051,NA07056,NA07346,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10853,NA10854,NA10855,NA10859,NA10861,NA10863,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11843,NA11881,NA11882,NA11891,NA11893,NA11917,NA11918,NA11931,NA11992,NA11993,NA11994,NA12003,NA12043,NA12045,NA12056,NA12057,NA12144,NA12145,NA12155,NA12156,NA12234,NA12249,NA12264,NA12272,NA12275,NA12282,NA12286,NA12287,NA12336,NA12340,NA12342,NA12344,NA12347,NA12386,NA12413,NA12489,NA12708,NA12716,NA12718,NA12740,NA12748,NA12752,NA12753,NA12761,NA12762,NA12763,NA12766,NA12776,NA12777,NA12801,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12877,NA12889,NA12891,NA17962,NA17965,NA17966,NA17969,NA17970,NA17974,NA17976,NA17977,NA17979,NA17980,NA17986,NA17990,NA17993,NA17995,NA17997,NA18101,NA18102,NA18107,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18134,NA18136,NA18138,NA18140,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18153,NA18154,NA18156,NA18157,NA18161,NA18162,NA18166,NA18485,NA18488,NA18498,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18517,NA18519,NA18524,NA18526,NA18532,NA18536,NA18548,NA18555,NA18558,NA18559,NA18561,NA18562,NA18564,NA18571,NA18573,NA18592,NA18593,NA18599,NA18602,NA18603,NA18609,NA18610,NA18615,NA18617,NA18618,NA18620,NA18621,NA18622,NA18627,NA18628,NA18630,NA18633,NA18635,NA18636,NA18637,NA18638,NA18639,NA18641,NA18643,NA18645,NA18670,NA18674,NA18685,NA18696,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18858,NA18860,NA18861,NA18863,NA18868,NA18871,NA18872,NA18873,NA18910,NA18913,NA18916,NA18923,NA18930,NA18933,NA18934,NA18939,NA18944,NA18945,NA18946,NA18949,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18972,NA18973,NA18976,NA18977,NA18981,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19038,NA19041,NA19044,NA19055,NA19062,NA19063,NA19064,NA19065,NA19066,NA19076,NA19077,NA19079,NA19080,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19095,NA19096,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19114,NA19116,NA19119,NA19120,NA19121,NA19123,NA19130,NA19131,NA19141,NA19142,NA19147,NA19149,NA19152,NA19153,NA19154,NA19161,NA19171,NA19172,NA19174,NA19178,NA19179,NA19182,NA19183,NA19189,NA19190,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19207,NA19211,NA19215,NA19221,NA19224,NA19226,NA19235,NA19237,NA19239,NA19240,NA19247,NA19249,NA19256,NA19257,NA19307,NA19309,NA19310,NA19311,NA19314,NA19315,NA19318,NA19327,NA19332,NA19346,NA19347,NA19350,NA19352,NA19359,NA19372,NA19380,NA19381,NA19384,NA19390,NA19393,NA19394,NA19398,NA19399,NA19428,NA19430,NA19434,NA19436,NA19437,NA19443,NA19449,NA19456,NA19457,NA19470,NA19471,NA19472,NA19473,NA19474,NA19651,NA19652,NA19653,NA19654,NA19656,NA19662,NA19665,NA19670,NA19676,NA19678,NA19679,NA19680,NA19683,NA19684,NA19700,NA19703,NA19704,NA19705,NA19708,NA19713,NA19716,NA19718,NA19720,NA19721,NA19725,NA19726,NA19746,NA19748,NA19749,NA19750,NA19751,NA19755,NA19757,NA19761,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19782,NA19784,NA19788,NA19794,NA19796,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19908,NA19909,NA19915,NA19916,NA19917,NA19918,NA19919,NA20126,NA20127,NA20281,NA20282,NA20284,NA20289,NA20292,NA20294,NA20295,NA20297,NA20302,NA20317,NA20319,NA20333,NA20334,NA20335,NA20340,NA20341,NA20343,NA20344,NA20345,NA20347,NA20348,NA20349,NA20356,NA20357,NA20358,NA20360,NA20364,NA20502,NA20504,NA20506,NA20512,NA20515,NA20516,NA20517,NA20519,NA20520,NA20524,NA20527,NA20530,NA20531,NA20535,NA20538,NA20539,NA20541,NA20542,NA20543,NA20544,NA20582,NA20588,NA20752,NA20753,NA20754,NA20755,NA20759,NA20760,NA20766,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20783,NA20790,NA20797,NA20799,NA20801,NA20802,NA20804,NA20805,NA20806,NA20807,NA20809,NA20813,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20849,NA20850,NA20852,NA20853,NA20858,NA20862,NA20866,NA20869,NA20871,NA20872,NA20873,NA20874,NA20875,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20899,NA20901,NA20903,NA20908,NA20910,NA20911,NA21086,NA21088,NA21099,NA21102,NA21104,NA21105,NA21107,NA21108,NA21111,NA21115,NA21116,NA21117,NA21123,NA21125,NA21137,NA21142,NA21297,NA21311,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21339,NA21352,NA21353,NA21357,NA21360,NA21361,NA21364,NA21366,NA21371,NA21379,NA21382,NA21385,NA21386,NA21389,NA21390,NA21391,NA21399,NA21402,NA21403,NA21404,NA21405,NA21414,NA21417,NA21418,NA21421,NA21434,NA21438,NA21439,NA21442,NA21448,NA21453,NA21454,NA21457,NA21473,NA21475,NA21476,NA21477,NA21480,NA21485,NA21486,NA21491,NA21493,NA21509,NA21510,NA21513,NA21519,NA21522,NA21523,NA21526,NA21574,NA21587,NA21599,NA21600,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21648,NA21678,NA21682,NA21685,NA21686,NA21693,NA21723,NA21733,NA21739,NA21740,NA21741,NA21784,NA21825,NA21826 nsv442967 1 110025907 110044476 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GSTM1,GSTM2 dgv3n47 1 110027143 110046509 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498681,nsv498682 M 9 0 2 GSTM1,GSTM2 esv2530591 1 110029634 110049003 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331264 S 1 0 1 GSTM1 NA18507 dgv66n67 1 110029868 110041912 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824098,nsv824109 M 31 2 0 GSTM1 NA18570,NA18972 nsv437937 1 110030105 110037055 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467864,nssv467875 M 269 0 2 Samples from several populations that are part of the HapMap project. GSTM1 NA12043,NA12264 nsv435675 1 110030649 110042911 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466217 S 2 0 1 GSTM1 NA15510 nsv482092 1 110031941 110037889 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558453 S 1 1 0 GSTM1 KB1 esv33243 1 110033049 110041457 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98783,essv97498,essv101252,essv93853,essv98284,essv94810,essv94466,essv95667,essv97395,essv94557,essv99101,essv92895,essv93715,essv96696,essv92566,essv96522,essv100472,essv99537 M 51 18 0 GSTM1 21606,21616,21618,21634,21772,21791,21808,21841,21879,21932,21938,21939,21972,22011,22233,22261,22298,22335 nsv2332 1 110035790 110059006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1317 S 9 1 0 GSTM1,GSTM5 NA19240 nsv522988 1 110108963 110111889 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698658 S 2026 1 0 "" esv33961 1 110150217 110150989 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93391 S 51 1 0 "" 22170 esv1002396 1 110154158 110157166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564925 S 3 0 1 "" HuRef esv275219 1 110217149 110218390 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586043,essv2586081 M 1250 1 1 "" esv269322 1 110349951 110350302 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513205,essv2503974 M 157 2 0 Samples from several populations that are part of the HapMap project. AHCYL1 NA07037,NA12249 nsv824120 1 110422478 110427020 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431091 S 31 0 1 "" AK18 nsv2343 1 110433761 110469485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5774,nssv4489,nssv3043 M 9 3 0 UBL4B NA12878,NA18555,NA19129 nsv509424 1 110448217 110479014 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619811,nssv621099 M 4 2 0 UBL4B NA10860,NA15510 nsv2354 1 110492926 110524622 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4499 S 9 1 0 SLC6A17 NA12878 nsv2365 1 110512279 110521167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6809 S 9 0 1 SLC6A17 NA12156 esv991777 1 110552100 110556998 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565663 S 3 0 1 KCNC4 HuRef esv1001876 1 110654299 110654299 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575182 S 3 1 0 LOC440600 HuRef esv8910 1 110703691 110704276 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31351 S 1 0 0 "" SJK esv33312 1 110756363 110759664 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98930 S 51 0 1 "" 21606 nsv519826 1 110831091 110838240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662944,nssv658959 M 2026 0 2 CYMP nsv524174 1 110836697 110840363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700055 S 2026 0 1 "" esv2359053 1 110913598 110914117 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577443 S 1 0 1 "" NA18507 nsv522839 1 110956801 110962533 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698491 S 2026 1 0 KCNA2 nsv520458 1 110972901 110988307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697433 S 2026 0 1 KCNA2 nsv2376 1 111077512 111090637 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6819 S 9 0 1 "" NA12156 nsv517897 1 111097197 111109444 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695306 S 2026 1 0 "" nsv831037 1 111114601 111255401 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448706 S 95 1 0 CD53 esv2023242 1 111117775 111118239 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921577 S 1 0 1 "" NA18507 esv3839 1 111117881 111118148 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26280 S 1 0 1 Single Asian sample YH "" YH nsv517082 1 111142680 111189246 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663874,nssv670794,nssv680029,nssv701118,nssv661484,nssv661130,nssv683037,nssv680869,nssv652646,nssv659517,nssv673134,nssv689997,nssv662372,nssv685787,nssv680182,nssv684988,nssv684087,nssv660366,nssv656767,nssv657151,nssv674450,nssv655875,nssv652041,nssv684124,nssv658924,nssv673328,nssv655053,nssv675397,nssv675715,nssv653810,nssv672559,nssv662181,nssv682161,nssv669991,nssv668892,nssv683550,nssv690543,nssv682012,nssv691932,nssv657972,nssv676535,nssv677888,nssv657406,nssv688806,nssv652852,nssv661553,nssv651734,nssv677166,nssv667611,nssv679263,nssv677049,nssv686152,nssv666710,nssv690594,nssv693157,nssv671864,nssv661437,nssv665352,nssv671485,nssv676916,nssv653759,nssv663597,nssv678960,nssv669952,nssv684898,nssv676974,nssv660616,nssv669084,nssv657015,nssv659461,nssv669208,nssv658006,nssv688819,nssv678386,nssv665831,nssv672411,nssv676135,nssv663457,nssv658200,nssv691006,nssv691096,nssv659322,nssv657335,nssv658116,nssv660532,nssv688099,nssv675534,nssv688628,nssv692507,nssv688490,nssv670525,nssv687340,nssv656225,nssv682619,nssv652359,nssv705563,nssv690382,nssv669488,nssv663435,nssv685083,nssv690429,nssv687625,nssv684074,nssv668839,nssv681365,nssv663114,nssv688319,nssv663019,nssv659814,nssv664516,nssv666607,nssv659586,nssv656298,nssv690491,nssv679819,nssv678027,nssv686345,nssv684777,nssv668523,nssv688302,nssv677998,nssv676167,nssv658402,nssv659236,nssv671738,nssv658960,nssv691361,nssv665832,nssv665721,nssv652389,nssv680899,nssv692305,nssv690669,nssv678159,nssv670219,nssv665790,nssv668036,nssv685833,nssv685935,nssv660264,nssv693561,nssv682688,nssv675662,nssv654031,nssv684384,nssv687950,nssv658909,nssv673105,nssv669896,nssv681709,nssv651924,nssv685594,nssv668653,nssv681546,nssv674503,nssv691595,nssv658242,nssv655379,nssv664346,nssv692640 M 2026 12 148 "" nsv508482 1 111153690 111199095 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618982,nssv620140 M 4 0 2 "" NA10860,NA15510 nsv437237 1 111158364 111184498 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467118 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv872146 1 111161325 111192904 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567345,nssv1587476,nssv1567059,nssv1566219,nssv1570078,nssv1565558,nssv1566974,nssv1574198,nssv1588341 M 6533 1 8 "" IS30467,IS30616,IS31041,IS31044,IS31070,IS31799,IS33530,IS38057,IS38183 nsv436958 1 111161325 111195236 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466839 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10860 nsv436969 1 111161325 111214435 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466850 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10835 nsv2387 1 111170391 111196092 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9566,nssv1328,nssv9324 M 9 0 3 "" NA18507,NA18517,NA19240 nsv818334 1 111176350 111189246 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418130,nssv1418131 M 112 0 2 "" NA19143,NA19145 nsv437238 1 111176629 111195236 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467119 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18857 esv2431691 1 111177097 111191040 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163663 S 1 0 1 "" NA18507 esv2460496 1 111177608 111190902 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254911 S 1 0 1 "" NA18507 nsv10628 1 111177769 111190791 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16413,nssv18070,nssv16748,nssv21404,nssv17431,nssv16416 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA12155,NA12802,NA18517,NA19240 nsv498683 1 111178404 111190478 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585396 S 9 0 1 "" esv2421811 1 111178889 111189749 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096034,essv5065935,essv5151657,essv5123391,essv5067023,essv5095812,essv5023055,essv5020454,essv5060289,essv5091402,essv5013165,essv5158424,essv5054668,essv5069606,essv5126596,essv5024515,essv5069111,essv5152541,essv5067887,essv5129909,essv5132322,essv5138226,essv5022343,essv5047671,essv5107304,essv5064839,essv5038694,essv5080248,essv5121380,essv5011107,essv5149435,essv5118414,essv5151102,essv5063035,essv5149859,essv5003152,essv5078745,essv5112849,essv5121968,essv5155752,essv5018408,essv5117127,essv5033703,essv5097329,essv5028593,essv5110800,essv5039328,essv5016908,essv5112640,essv5020136,essv5054557,essv5082271,essv5101324,essv5149142,essv5049989,essv5031724,essv5029311,essv5078333,essv5085471,essv5076136,essv5080812,essv5084191,essv5023791,essv5015109,essv5131013,essv5083293,essv5145557,essv5095257,essv5130652,essv5016190,essv5094026,essv5040082,essv5010482,essv5036946,essv5021089,essv5053847,essv5035160,essv5108534,essv5014770,essv5006964,essv5024349,essv5006320,essv5142441,essv5035383,essv5104158,essv5125652,essv5022682,essv5030597,essv5067832,essv5154491,essv5080024,essv5028034,essv5032827,essv5136816,essv5149446,essv5140275,essv5038893,essv5132618,essv5137902,essv5062152,essv5027831,essv5126456,essv5006402,essv5003260,essv5097336,essv5079351,essv5039085,essv5036219,essv5054487,essv5102380,essv5151455,essv5157520,essv5011072,essv5094152,essv5114751,essv5038925,essv5100027,essv5050683,essv5004389,essv5081542,essv5143696,essv5143856,essv5017670,essv5138759,essv5034418,essv5066833,essv5143839,essv5149418,essv5027247,essv5125610,essv5032454,essv5144841,essv5086752,essv5066841,essv5057418,essv5026334,essv5098058,essv5061270,essv5014327,essv5002143,essv5012583,essv5113784,essv5008375,essv5005943,essv5125060,essv5158392,essv5126964,essv5106393,essv5040625,essv5058642,essv5028180,essv5136996,essv5114071,essv5107228,essv5075405,essv5091907,essv5085618,essv5078816,essv5158893,essv5110669,essv5120114,essv5159384,essv5134077,essv5009939,essv5074198,essv5114250,essv5135244,essv5016850,essv5074883,essv5118663,essv5112402,essv5127117,essv5114016,essv5069676,essv5024453,essv5006690,essv5142578,essv5085082,essv5011290,essv5017003,essv5118608,essv5092408,essv5125099,essv5028645,essv5144674,essv5098555,essv5012273,essv5122510,essv5078034,essv5134799,essv5136683,essv5113401,essv5004809,essv5119081,essv5102661,essv5155720 M 1184 0 196 "" NA06986,NA06991,NA06993,NA06997,NA07045,NA07055,NA07347,NA07357,NA10835,NA10843,NA10859,NA10861,NA10863,NA11882,NA11920,NA11992,NA11995,NA12003,NA12145,NA12155,NA12249,NA12264,NA12335,NA12340,NA12343,NA12348,NA12763,NA12767,NA12775,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12875,NA18484,NA18485,NA18488,NA18489,NA18506,NA18507,NA18515,NA18516,NA18517,NA18682,NA18852,NA18854,NA18855,NA18857,NA18861,NA18863,NA18867,NA18868,NA18869,NA18873,NA18874,NA18875,NA18909,NA18911,NA18913,NA18914,NA18916,NA18924,NA18930,NA19036,NA19038,NA19044,NA19101,NA19103,NA19107,NA19109,NA19116,NA19117,NA19118,NA19120,NA19137,NA19140,NA19141,NA19142,NA19143,NA19146,NA19148,NA19150,NA19151,NA19174,NA19178,NA19179,NA19180,NA19182,NA19183,NA19190,NA19191,NA19197,NA19199,NA19200,NA19201,NA19202,NA19206,NA19208,NA19209,NA19224,NA19225,NA19236,NA19239,NA19240,NA19317,NA19318,NA19377,NA19382,NA19385,NA19434,NA19436,NA19444,NA19455,NA19466,NA19472,NA19473,NA19474,NA19649,NA19650,NA19661,NA19708,NA19759,NA19835,NA19836,NA19900,NA19908,NA19909,NA19916,NA19919,NA19921,NA20289,NA20290,NA20294,NA20295,NA20297,NA20337,NA20341,NA20346,NA20347,NA20348,NA20515,NA20544,NA20588,NA20758,NA20759,NA20786,NA20799,NA20804,NA20808,NA20815,NA20847,NA20850,NA20852,NA20866,NA20870,NA20874,NA20879,NA20883,NA20890,NA20894,NA20896,NA20898,NA20904,NA21086,NA21104,NA21112,NA21115,NA21117,NA21118,NA21297,NA21303,NA21336,NA21339,NA21353,NA21371,NA21390,NA21391,NA21421,NA21510,NA21512,NA21513,NA21520,NA21526,NA21527,NA21529,NA21608,NA21611,NA21614,NA21615,NA21647,NA21686,NA21689,NA21722,NA21776 nsv442974 1 111179088 111189749 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514003 1 111180072 111189720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627659 S 1414 0 1 "" esv29589 1 111180085 111190659 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15129 S 451 0 10 "" NA07045,NA11995,NA18517,NA18861,NA18907,NA18909,NA18916,NA19190,NA19225,NA19240 nsv437948 1 111180501 111184586 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467952,nssv467964,nssv467986,nssv467941,nssv467975,nssv467908,nssv467919,nssv467897,nssv467930,nssv467886 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA10835,NA10859,NA10860,NA11882,NA11992,NA12249,NA12264,NA12801,NA12812,NA12814 dgv29n27 1 111180501 111189246 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463161,nsv463184,nsv463206,nsv463173,nsv463195,nsv463217,nsv463150,nsv463228,nsv463139 M 1557 0 9 "" 1780854545_A,1780862075_A,1780862111_A,1798860552_A,HGDP00467,HGDP00640,HGDP00647,HGDP00869,HGDP01268 nsv818345 1 111180501 111189246 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416625,nssv1417814,nssv1416671,nssv1417962,nssv1415608,nssv1416021,nssv1416821,nssv1418392,nssv1415609,nssv1418403,nssv1416022,nssv1417816,nssv1416903,nssv1417770,nssv1417963,nssv1417964,nssv1416624,nssv1415733,nssv1415734,nssv1416822,nssv1416023,nssv1418381 M 112 3 19 "" NA06991,NA06993,NA07345,NA07348,NA07357,NA10835,NA12249,NA12801,NA12812,NA12813,NA12874,NA12875,NA18852,NA18854,NA19116,NA19120,NA19137,NA19140,NA19141,NA19142,NA19239,NA19240 dgv330n71 1 111219740 111286730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872148,nsv872147 M 6533 0 3 CD53 IS30539,IS35742,MS22104 nsv522939 1 111222950 111227572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698602 S 2026 0 1 CD53 nsv2398 1 111247554 111281753 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4509 S 9 1 0 "" NA12878 nsv463239 1 111260817 111286730 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539262 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00003 nsv523488 1 111267576 111268125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699255 S 2026 0 1 "" nsv528444 1 111277276 111277364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705039 S 2026 0 1 "" nsv872149 1 111377444 111473230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522507 S 6533 0 1 DRAM2 SP53196 nsv508493 1 111396487 111445132 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617520 S 4 0 1 "" CHM nsv10639 1 111470372 111588576 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16756 S 31 1 0 Samples from several populations that are part of the HapMap project. CEPT1,CHI3L2,DENND2D,DRAM2 NA18552 esv2455976 1 111498703 111500178 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393215 S 1 0 1 CEPT1 NA18507 nsv463250 1 111539439 111863735 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539273 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADORA3,ATP5F1,C1orf162,C1orf88,CHI3L2,CHIA,DENND2D,OVGP1,PGCP1,RP11-165H20.1,WDR77 HGDP01268 dgv86e1 1 111588918 111596256 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv922,essv6105 M 271 0 0 "" NA18573 dgv87e1 1 111625374 111636507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5692,esv1167,essv512 M 271 0 0 CHIA,RP11-165H20.1 NA18550,NA18952 nsv441709 1 111629849 111637017 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CHIA,RP11-165H20.1 essv5780 1 111629987 111636507 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CHIA,RP11-165H20.1 NA18540 nsv818356 1 111631018 111633814 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417423,nssv1417174 M 112 0 2 "" NA18550,NA18952 esv1564747 1 111639792 111639854 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984685 S 2 0 1 CHIA HuRef nsv518232 1 111648326 111685536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695661 S 2026 0 1 CHIA nsv525163 1 111676725 111677051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701237 S 2026 0 1 "" nsv523975 1 111676725 111686983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699830 S 2026 0 1 "" nsv512745 1 111697590 111697702 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625372 S 1 1 0 "" 1 esv273569 1 111697668 111699306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579851,essv2580760,essv2578970,essv2579579 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 esv269399 1 111697668 111699336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510283,essv2500837,essv2506819,essv2495446,essv2504419,essv2507977,essv2502288,essv2500224,essv2499457,essv2505511,essv2513221,essv2502568,essv2507763,essv2503762,essv2493452,essv2508855,essv2500269,essv2496821,essv2510744,essv2493291,essv2496231,essv2493714,essv2494637,essv2509012,essv2498312,essv2500476,essv2497358,essv2494537,essv2508298,essv2499919,essv2504533,essv2506319,essv2494467,essv2507651,essv2512682,essv2508110,essv2508487,essv2509987,essv2499243,essv2507479,essv2505356,essv2505785,essv2507253,essv2513252,essv2511624,essv2493101,essv2503689,essv2501481,essv2504800,essv2506848,essv2509425,essv2496933,essv2512180,essv2501785,essv2498142,essv2502084,essv2503668,essv2495766,essv2495060,essv2511558,essv2499537 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07357,NA10851,NA11830,NA11918,NA11919,NA11993,NA12003,NA12004,NA12006,NA12044,NA12154,NA12249,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA18498,NA18501,NA18504,NA18511,NA18517,NA18519,NA18522,NA18526,NA18537,NA18545,NA18550,NA18561,NA18562,NA18563,NA18566,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18605,NA18638,NA18853,NA18861,NA18870,NA18907,NA18940,NA18951,NA18960,NA19093,NA19099,NA19102,NA19129,NA19190,NA19238,NA19239,NA19240,NA19257 nsv508504 1 111709563 111753213 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618983 S 4 0 1 PGCP1 NA10860 nsv523120 1 111728687 111735827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698820 S 2026 0 1 PGCP1 esv24395 1 111730544 111736420 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12562 S 451 0 2 PGCP1 NA07037,NA11993 nsv441710 1 111730660 111734750 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PGCP1 nsv516329 1 111732439 111735827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656465,nssv671993,nssv683722,nssv677602,nssv652776,nssv653712,nssv664466,nssv668712,nssv687080,nssv693306,nssv663615,nssv674042,nssv659651,nssv681590 M 2026 0 14 PGCP1 nsv818367 1 111732439 111735827 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415805,nssv1415804 M 112 0 2 PGCP1 NA10860,NA11993 nsv517961 1 111735827 111737905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695374 S 2026 0 1 "" nsv824131 1 111758542 111765835 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431834 S 31 0 1 OVGP1 AK20 esv2100138 1 111758873 111759308 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868458 S 1 0 1 OVGP1 NA18507 nsv819848 1 111777127 111784755 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419837 S 2 0 1 WDR77 AK1 esv268646 1 111802755 111802840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519094 S 157 1 0 Samples from several populations that are part of the HapMap project. ATP5F1 NA19141 esv268296 1 111809298 111810009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504026 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv2410 1 111831073 111854395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9568 S 9 1 0 ADORA3 NA18507 esv270092 1 111833773 111834127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504314,essv2496152,essv2501104,essv2494857,essv2508747,essv2500393,essv2497803,essv2500064,essv2508275,essv2499892,essv2504526,essv2508629,essv2496123,essv2501568,essv2512859,essv2507508,essv2505866,essv2507089,essv2493948,essv2507331,essv2511680,essv2503069,essv2497934,essv2503527,essv2502412,essv2502697,essv2504639,essv2507020,essv2498992,essv2509491,essv2499666,essv2495082 M 157 32 0 Samples from several populations that are part of the HapMap project. ADORA3 NA07051,NA18505,NA18511,NA18516,NA18519,NA18532,NA18537,NA18555,NA18558,NA18561,NA18562,NA18563,NA18592,NA18603,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18912,NA18940,NA18943,NA18945,NA18947,NA18948,NA18965,NA19099,NA19102,NA19114,NA19129,NA19225 nsv872150 1 111837248 111857051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595276 S 6533 0 1 ADORA3 IS40219 esv1401225 1 111846318 111846318 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920283 S 2 1 0 ADORA3 HuRef nsv2421 1 111865297 111911432 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6829 S 9 0 1 ADORA3 NA12156 esv1773706 1 111889089 111889259 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130878 S 2 0 1 ADORA3 HuRef esv269415 1 111925176 111925261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516629,essv2517059,essv2515149 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12812 esv269684 1 111983514 111985158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500824,essv2507990,essv2503432,essv2506069,essv2497211,essv2498571,essv2509352,essv2505391,essv2500807,essv2510887,essv2498708 M 157 11 0 Samples from several populations that are part of the HapMap project. RAP1A NA11830,NA12003,NA12716,NA18523,NA18552,NA18858,NA18909,NA18952,NA18973,NA19116,NA19138 nsv2432 1 112133265 112158240 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1338 S 9 1 0 KCND3 NA19240 dgv331n71 1 112141403 112164168 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872153,nsv872151,nsv872152,nsv872154 M 6533 0 5 KCND3 SP50622,SP50954,SP56783,SP57686,SP80988 esv1002713 1 112221852 112229970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563940 S 3 0 1 KCND3 HuRef nsv872155 1 112230476 112256307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574455 S 6533 0 1 KCND3 IS33575 nsv463261 1 112235189 112253548 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539284 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCND3 HGDP00094 nsv831048 1 112261220 112481802 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448717 S 95 1 0 KCND3 nsv528707 1 112263160 112264964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705354 S 2026 0 1 KCND3 nsv463272 1 112324618 112358420 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539295 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCND3 HGDP00814 nsv824143 1 112332637 112337682 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433435 S 31 1 0 KCND3 NA18526 nsv831059 1 112370585 112526248 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448728 S 95 1 0 "" nsv831070 1 112396181 112594062 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448751,nssv1448762,nssv1448740 M 95 3 0 "" nsv508515 1 112459063 112534404 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618984,nssv620141 M 4 0 2 "" NA10860,NA15510 nsv2443 1 112487442 112516321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10981,nssv10201 M 9 0 2 "" NA15510,NA18956 nsv435900 1 112490979 112506339 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466228 S 2 0 1 "" NA15510 nsv287 1 112491625 112512823 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv287 S 1 0 1 "" NA15510 dgv8n17 1 112492066 112509389 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436991,nsv436980 M 60 0 2 "" NA07019,NA12707 esv4533 1 112493274 112506348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26974 S 1 0 1 Single Asian sample YH "" YH nsv498684 1 112493313 112506229 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585397 S 9 0 1 "" esv1001556 1 112493315 112507895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564985 S 3 0 1 "" HuRef nsv820716 1 112493555 112506369 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420547 S 1 0 1 "" NA10851 nsv819350 1 112493657 112506352 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418636 S 2 0 1 "" AK1 esv27061 1 112494152 113047786 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17606,esv13773,esv13370 M 451 26 3 CAPZA1,CTTNBP2NL,MIR4256,MOV10,RHOC,ST7L,WNT2B NA12004,NA12044,NA12239,NA12414,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv824154 1 112494671 112505908 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427277,nssv1431092,nssv1428838,nssv1424759,nssv1433436,nssv1433074,nssv1429577,nssv1423971,nssv1426406 M 31 3 6 "" AK12,AK14,AK18,AK2,AK6,AK8,NA18526,NA18582,NA18592 dgv67n67 1 112494671 112506218 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824209,nsv824165,nsv824176,nsv824187,nsv824198 M 31 11 0 "" AK16,AK4,NA18547,NA18564,NA18570,NA18947,NA18949,NA18951,NA18968,NA18973,NA18997 nsv10650 1 112494896 112506441 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19101,nssv19428,nssv16089,nssv16746,nssv18077,nssv17420,nssv19093,nssv17761,nssv21764,nssv20429,nssv16743,nssv16087,nssv17424,nssv16091,nssv18762,nssv15115,nssv16107,nssv20430,nssv16768,nssv17732 M 31 20 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18563,NA18564,NA18853,NA18860,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 esv2421462 1 112496243 112498913 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033388,essv5100444,essv5103983,essv5003648,essv5048766,essv5083632,essv5051126,essv5137716,essv5068470,essv5147848,essv5126101,essv5045779,essv5110712,essv5119171,essv5077448,essv5024067,essv5063162,essv5101616,essv5119896,essv5128188,essv5154838,essv5075297,essv5080921,essv5114706,essv5062104,essv5048740,essv5019779,essv5079183,essv5159252,essv5136770,essv5113247,essv5159020,essv5062216,essv5110124,essv5146081,essv5124780,essv5069761,essv5103987,essv5125920,essv5054184,essv5120440,essv5142886,essv5103796,essv5046328,essv5130908,essv5152659,essv5127032,essv5018601,essv5011592,essv5077043,essv5050611,essv5013957,essv5088089,essv5011460,essv5109417,essv5159531,essv5092516,essv5112603,essv5088979,essv5024657,essv5158584,essv5025791,essv5048147,essv5010635,essv5118093,essv5147365,essv5100379,essv5101039,essv5036750,essv5160090,essv5026022,essv5068261,essv5107067,essv5035226,essv5120891,essv5091009,essv5009180,essv5052021,essv5079859,essv5047231,essv5045370,essv5087260,essv5062702,essv5085327,essv5043621,essv5044477,essv5038788,essv5097741,essv5071229,essv5126488,essv5151940,essv5042286,essv5131420,essv5151022,essv5058923,essv5080880,essv5075465,essv5021516,essv5142017,essv5082558,essv5010431,essv5045289,essv5016183,essv5022054,essv5096409,essv5081609,essv5004366,essv5109391,essv5124604,essv5028629,essv5085875,essv5025701,essv5042004,essv5088945,essv5076310,essv5113625,essv5102193,essv5040527,essv5069615,essv5063054,essv5128870,essv5078523,essv5154164,essv5114888,essv5123516,essv5002346,essv5151634,essv5042115,essv5111622,essv5048271,essv5049507,essv5092857,essv5131215,essv5012840,essv5086176,essv5058668,essv5004624,essv5128646,essv5106193,essv5075458,essv5062247,essv5145937,essv5144933,essv5018699,essv5052064,essv5001960,essv5131844,essv5101844,essv5013513,essv5130161,essv5019333,essv5086206,essv5018522,essv5106646,essv5057578,essv5146130,essv5053208,essv5121076,essv5019946,essv5138101,essv5050428,essv5038211,essv5160063,essv5048242,essv5018420,essv5023189,essv5107142,essv5077474,essv5019913,essv5098629,essv5042301,essv5065442,essv5131726,essv5099343,essv5144762,essv5021587,essv5154039,essv5160513,essv5016552,essv5156463,essv5103285,essv5144302,essv5019748,essv5068224,essv5012909,essv5121264,essv5098988,essv5088475,essv5005336,essv5031533,essv5077014,essv5012733,essv5130455,essv5018978,essv5112512,essv5076146,essv5086534,essv5002583,essv5108360,essv5087295,essv5109961,essv5040044,essv5026828,essv5067803,essv5105223,essv5064600,essv5106699,essv5069171,essv5146978,essv5088832,essv5107076,essv5136518,essv5115768,essv5065083,essv5038011,essv5013131,essv5111399,essv5011287,essv5160273,essv5080377,essv5133496,essv5146694,essv5125172,essv5143741,essv5081860,essv5115263,essv5117530,essv5020664,essv5073458,essv5053061,essv5058342,essv5058258,essv5136962,essv5153798,essv5106482,essv5072058,essv5002395,essv5134515,essv5126833,essv5139346,essv5138991,essv5045709,essv5069374,essv5060005,essv5103333,essv5048305,essv5113308,essv5076269,essv5140439,essv5147727,essv5029358,essv5050453,essv5050987,essv5100488,essv5048716,essv5056580,essv5139976,essv5056907,essv5105667,essv5068355,essv5156636,essv5022593,essv5087472,essv5066908,essv5060275,essv5007257,essv5053649,essv5116386,essv5002600,essv5090209,essv5028837,essv5040319,essv5060268,essv5104086,essv5073645,essv5124023,essv5079122,essv5002281,essv5123588,essv5074886,essv5077461,essv5065874,essv5073900,essv5050431,essv5155112,essv5085721,essv5086035,essv5007069,essv5125500,essv5015358,essv5104780,essv5051499,essv5055562,essv5007280,essv5129481,essv5007879,essv5032731,essv5122628,essv5032882,essv5160825,essv5128507,essv5007465,essv5003163,essv5079705,essv5112311,essv5091785,essv5045505,essv5068028,essv5094165,essv5140083,essv5080134,essv5152602,essv5086372,essv5155090,essv5081696,essv5119542,essv5137594,essv5033801,essv5041263,essv5117483,essv5031664,essv5018570,essv5092686,essv5096416,essv5113545,essv5065268,essv5152536,essv5068550,essv5060155,essv5103404,essv5092674,essv5106090,essv5144594,essv5107298,essv5027663,essv5045173,essv5077330,essv5099478,essv5123989,essv5015895,essv5030023,essv5065467,essv5058197,essv5100526,essv5044000,essv5009567,essv5054803,essv5123672,essv5095904,essv5054355,essv5136966,essv5133373,essv5134002,essv5145640,essv5035492,essv5005086,essv5137571,essv5036515,essv5036977,essv5141778,essv5109331,essv5056113,essv5021625,essv5046676,essv5031414,essv5035408,essv5154790,essv5029513,essv5092617,essv5157339,essv5044602,essv5069973,essv5079384,essv5046950,essv5015400,essv5130883,essv5042994,essv5036698,essv5051142,essv5096027,essv5108262,essv5076297,essv5099459,essv5082386,essv5105886,essv5074504,essv5074726,essv5012027,essv5024890,essv5012769,essv5044492,essv5057440,essv5080791,essv5022274,essv5138737,essv5022700,essv5009699,essv5016067,essv5110373,essv5123235,essv5105981,essv5101676,essv5100819,essv5055789,essv5141267,essv5138654,essv5018417,essv5125517,essv5090493,essv5024575,essv5063616,essv5136893,essv5157800,essv5027607,essv5029498,essv5089602,essv5029425,essv5002128,essv5159377,essv5115995,essv5116619,essv5091752,essv5057698,essv5149277,essv5067885,essv5127336,essv5009439,essv5133981,essv5096338,essv5145318,essv5031969,essv5122398,essv5137413,essv5105332,essv5083441,essv5098630,essv5153113,essv5123401,essv5013965,essv5070765,essv5017821,essv5009151,essv5053251,essv5095400,essv5104849,essv5081645,essv5142978,essv5096072,essv5117728,essv5149707,essv5062150,essv5065384,essv5004221,essv5129877,essv5086714 M 1184 0 455 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06997,NA07014,NA07022,NA07031,NA07037,NA07045,NA07051,NA07055,NA07345,NA07348,NA07435,NA10831,NA10835,NA10837,NA10839,NA10840,NA10843,NA10845,NA10847,NA10853,NA10854,NA10861,NA10864,NA11829,NA11839,NA11840,NA11892,NA11893,NA11894,NA11917,NA11919,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12146,NA12155,NA12156,NA12248,NA12249,NA12272,NA12273,NA12283,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12347,NA12376,NA12383,NA12413,NA12546,NA12707,NA12708,NA12716,NA12739,NA12748,NA12749,NA12750,NA12752,NA12760,NA12761,NA12763,NA12767,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12815,NA12817,NA12828,NA12829,NA12830,NA12843,NA12864,NA12865,NA12873,NA12874,NA12889,NA17962,NA17965,NA17969,NA17970,NA17975,NA17976,NA17980,NA17981,NA17983,NA17986,NA17987,NA17988,NA17989,NA17993,NA17996,NA17997,NA17999,NA18102,NA18106,NA18107,NA18108,NA18109,NA18118,NA18120,NA18124,NA18125,NA18127,NA18129,NA18131,NA18133,NA18135,NA18136,NA18140,NA18143,NA18144,NA18148,NA18149,NA18152,NA18153,NA18154,NA18156,NA18157,NA18158,NA18159,NA18160,NA18162,NA18166,NA18497,NA18498,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18548,NA18550,NA18552,NA18558,NA18561,NA18566,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18594,NA18595,NA18596,NA18599,NA18602,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18616,NA18618,NA18622,NA18623,NA18624,NA18627,NA18630,NA18631,NA18632,NA18634,NA18635,NA18636,NA18638,NA18639,NA18641,NA18642,NA18670,NA18674,NA18685,NA18689,NA18694,NA18702,NA18704,NA18745,NA18747,NA18748,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18948,NA18953,NA18954,NA18956,NA18959,NA18961,NA18963,NA18969,NA18972,NA18976,NA18977,NA18978,NA18979,NA18981,NA18991,NA18993,NA18994,NA18995,NA18998,NA18999,NA19000,NA19007,NA19010,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19081,NA19084,NA19085,NA19086,NA19087,NA19088,NA19185,NA19327,NA19398,NA19429,NA19455,NA19456,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19658,NA19659,NA19663,NA19665,NA19675,NA19678,NA19680,NA19681,NA19682,NA19683,NA19684,NA19701,NA19702,NA19716,NA19718,NA19721,NA19722,NA19723,NA19724,NA19725,NA19746,NA19747,NA19748,NA19749,NA19755,NA19756,NA19757,NA19759,NA19760,NA19762,NA19763,NA19771,NA19772,NA19773,NA19774,NA19775,NA19777,NA19778,NA19780,NA19782,NA19783,NA19784,NA19788,NA19790,NA19794,NA19909,NA19919,NA19921,NA20129,NA20300,NA20317,NA20319,NA20334,NA20342,NA20356,NA20358,NA20502,NA20506,NA20508,NA20509,NA20512,NA20515,NA20519,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20581,NA20582,NA20752,NA20757,NA20758,NA20760,NA20765,NA20766,NA20768,NA20769,NA20772,NA20774,NA20778,NA20785,NA20786,NA20792,NA20796,NA20797,NA20799,NA20800,NA20801,NA20803,NA20805,NA20807,NA20809,NA20810,NA20826,NA20847,NA20849,NA20853,NA20854,NA20856,NA20859,NA20861,NA20862,NA20869,NA20870,NA20872,NA20874,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20909,NA20910,NA21086,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21103,NA21104,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21116,NA21117,NA21118,NA21137,NA21141,NA21144,NA21320,NA21339,NA21408,NA21421,NA21436,NA21441,NA21442,NA21457,NA21489,NA21490,NA21574,NA21575,NA21597,NA21600,NA21683,NA21733,NA21784 dgv88e1 1 112496617 112512047 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2956,essv2403,essv2149,essv18573,essv22016,essv6505,essv3506,essv20683,essv6550,esv1409,essv23292 M 271 0 0 "" NA10851,NA12006,NA12802,NA12815,NA18572,NA18624,NA18972,NA18976,NA18978,NA18999 nsv514004 1 112496696 112498744 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627670 S 1414 0 1 "" nsv442981 1 112497200 112498913 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv68n67 1 112497872 112498375 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824231,nsv824220 M 31 0 2 "" AK8,NA18526 nsv824242 1 112497872 112498674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431093,nssv1424760,nssv1429578 M 31 0 3 "" AK14,AK18,AK2 esv272997 1 112537481 112537831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579921,essv2580623,essv2579401 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 esv268117 1 112537500 112537826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546595,essv2536453,essv2545597,essv2577455,essv2548181,essv2576808,essv2520512,essv2547181,essv2553762,essv2559444,essv2561995,essv2528607,essv2546762,essv2557391,essv2556931,essv2569203,essv2578851,essv2550200,essv2549437,essv2567748,essv2541579,essv2563911,essv2566796,essv2550908,essv2533716,essv2567081,essv2529930,essv2573827,essv2522514,essv2571951,essv2526772,essv2575535,essv2538679,essv2524255,essv2571426,essv2537904 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11881,NA11920,NA12003,NA12043,NA12045,NA12154,NA12716,NA12717,NA12763,NA12776,NA12874,NA12891,NA12892,NA18499,NA18501,NA18508,NA18510,NA18511,NA18564,NA18577,NA18592,NA18603,NA18853,NA18858,NA18944,NA18947,NA18949,NA18951,NA18960,NA18973,NA19005,NA19099,NA19108,NA19129,NA19238 nsv528561 1 112563162 112564616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705177 S 2026 0 1 "" nsv2454 1 112615372 112659782 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2317,nssv6838 M 9 0 2 "" NA12156,NA18555 esv1001069 1 112636278 112639366 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565310 S 3 0 1 "" HuRef nsv511710 1 112636507 112639603 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626351 S 1 0 1 "" 1 nsv498685 1 112636610 112639207 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585398 S 9 0 1 "" esv1390905 1 112636628 112639206 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771414 S 2 0 1 "" HuRef nsv508526 1 112640919 112716738 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617345 S 4 0 1 "" CHM nsv872156 1 112688068 112729435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575355 S 6533 0 1 "" IS33721 nsv831081 1 112736443 112924163 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448773 S 95 0 1 CTTNBP2NL,MIR4256,ST7L,WNT2B esv267691 1 112793498 112793828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557896,essv2540700,essv2546380,essv2521434,essv2526172,essv2536460,essv2522793,essv2544133,essv2570942,essv2556475,essv2523253,essv2531837,essv2577285,essv2548199,essv2521625,essv2576554,essv2525374,essv2550500,essv2535349,essv2552102,essv2547508,essv2529212,essv2558639,essv2564581,essv2578101,essv2553764,essv2559535,essv2555127,essv2530576,essv2561796,essv2537403,essv2528555,essv2546812,essv2557473,essv2556906,essv2538982,essv2544866,essv2553008,essv2542650,essv2540516,essv2524505,essv2564817,essv2534744,essv2561041,essv2539706,essv2549366,essv2560078,essv2565954,essv2531112,essv2567590,essv2570279,essv2553309,essv2535586,essv2572466,essv2542045,essv2551181,essv2543667,essv2562390,essv2539409,essv2534077,essv2572933,essv2555585,essv2573906,essv2555808,essv2522378,essv2531658,essv2573569,essv2543271,essv2572159,essv2525597,essv2527016,essv2575504,essv2575225,essv2538588,essv2560831,essv2574850,essv2560265,essv2549880,essv2571308,essv2546050,essv2574381,essv2551201,essv2536267,essv2548704,essv2533275,essv2554394,essv2547649,essv2525174,essv2563473 M 157 89 0 Samples from several populations that are part of the HapMap project. CTTNBP2NL NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18519,NA18526,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18582,NA18593,NA18605,NA18608,NA18609,NA18856,NA18858,NA18870,NA18909,NA18912,NA18916,NA18942,NA18945,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19099,NA19102,NA19108,NA19137,NA19138,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273441 1 112793499 112793827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581869,essv2582731,essv2582801,essv2584309,essv2584468,essv2583846 M 7 6 0 Samples from several populations that are part of the HapMap project. CTTNBP2NL NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv159431 1 112793518 112793518 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178009 M 24 CTTNBP2NL nsv159278 1 112793533 112796480 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177856 M 24 CTTNBP2NL nsv506955 1 112804672 112810672 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623283,nssv617538,nssv620666 M 4 3 0 CTTNBP2NL,MIR4256 CHM,NA15510,NA18994 esv1009068 1 112850515 112858930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563680 S 3 0 1 WNT2B HuRef essv21692 1 112958658 113320889 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AKR7A2P1,CAPZA1,FAM19A3,MOV10,PPM1J,RHOC,SLC16A1,ST7L NA12248 nsv159055 1 112971772 112972095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177633 M 24 CAPZA1 esv274511 1 112980716 112982382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580188,essv2580405,essv2580991,essv2579089,essv2579429 M 7 5 0 Samples from several populations that are part of the HapMap project. CAPZA1 NA12878,NA12891,NA19238,NA19239,NA19240 esv997362 1 113036343 113044820 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564850 S 3 0 1 MOV10 HuRef esv27598 1 113047841 113152298 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18511 S 451 0 1 FAM19A3,PPM1J,RHOC NA18523 dgv332n71 1 113048990 113067342 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872157,nsv872158,nsv872159 M 6533 0 4 FAM19A3,PPM1J,RHOC SP54725,SP54956,SP54988,SP55021 esv2414426 1 113050432 113050810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619877 S 1 0 1 RHOC NA18507 nsv818378 1 113065234 113236341 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415610 S 112 1 0 FAM19A3 NA12248 essv18807 1 113077679 113251900 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12248 nsv526064 1 113099290 113103180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702304 S 2026 0 1 "" nsv872160 1 113103180 113211274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595983 S 6533 0 1 "" IS40380 esv1703229 1 113118096 113118450 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736730 S 2 0 1 "" HuRef esv24626 1 113176960 113654338 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15442,esv12789,esv18293 M 451 0 7 AKR7A2P1,LOC643441,LRIG2,SLC16A1 NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19225 nsv522967 1 113185538 113202513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698637 S 2026 0 1 "" esv1681392 1 113192068 113192068 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4155546 S 2 1 0 "" HuRef nsv509435 1 113323601 113391866 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621100 S 4 1 0 "" NA15510 esv2592828 1 113329982 113334641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210289 S 1 0 1 "" NA18507 nsv512746 1 113343684 113343887 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625373 S 1 1 0 "" 1 esv1204934 1 113343812 113343812 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097240 S 2 1 0 "" HuRef esv990846 1 113374743 113377662 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564479 S 3 0 1 "" HuRef nsv508537 1 113391866 113437326 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617355 S 4 0 1 LRIG2 CHM nsv437002 1 113394111 113460410 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466883 S 60 0 1 Samples from several populations that are part of the HapMap project. LRIG2 NA07348 esv2474740 1 113411201 113416322 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369436 S 1 0 1 "" NA18507 nsv435694 1 113411786 113417817 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466239 S 2 0 1 LRIG2 NA15510 esv2497412 1 113412552 113416374 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277106 S 1 0 1 "" NA18507 esv1005491 1 113412634 113415300 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564475 S 3 0 1 "" HuRef esv2150876 1 113412657 113415384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744159 S 1 0 1 "" NA18507 nsv511711 1 113412753 113415801 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626352 S 1 0 1 "" 1 nsv160886 1 113412863 113415317 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179464 M 24 "" esv1648118 1 113517168 113517457 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821552 S 2 0 1 "" HuRef esv1750565 1 113517509 113517509 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983796 S 2 1 0 "" HuRef nsv2465 1 113533112 113578128 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7464 S 9 0 1 LOC643441 NA12156 nsv520749 1 113574256 113582881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694399 S 2026 0 1 "" esv5296 1 113601086 113601722 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27737 S 1 0 1 Single Asian sample YH "" YH esv1726981 1 113601154 113601616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815235 S 2 0 1 "" HuRef esv8291 1 113601157 113601617 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30732 S 1 0 1 "" SJK esv23869 1 113664475 114702640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11517,esv21206 M 451 0 2 AP4B1,BCL2L15,DCLRE1B,HIPK1,LOC100287722,MAGI3,OLFML3,PHTF1,PTPN22,RSBN1,SYT6 NA12414,NA18523 esv1432098 1 113689017 113690049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176408 S 2 0 1 "" HuRef esv1257635 1 113760311 113760311 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633723 S 2 1 0 MAGI3 HuRef esv1062910 1 113760356 113760356 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171997 S 2 1 0 MAGI3 HuRef esv1673662 1 113760610 113760610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679714 S 2 1 0 MAGI3 HuRef nsv508548 1 113839086 113849350 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618985 S 4 0 1 MAGI3 NA10860 nsv435905 1 113839225 113847608 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466251 S 2 0 1 MAGI3 NA15510 esv5987 1 113841369 113847419 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28428 S 1 0 1 MAGI3 SJK nsv824254 1 113847279 113847998 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432285,nssv1421468 M 31 2 0 MAGI3 NA18972,NA18997 nsv437013 1 113867478 113930615 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466894 S 60 0 1 Samples from several populations that are part of the HapMap project. MAGI3 NA12707 nsv872161 1 113963717 114081658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518201 S 6533 0 1 MAGI3,PHTF1 SP57472 nsv831093 1 114055690 114179758 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448784 S 95 0 1 PHTF1,PTPN22,RSBN1 esv2179916 1 114068290 114072857 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704253 S 1 0 1 PHTF1 NA18507 nsv820192 1 114108389 114108834 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418955 S 2 0 1 RSBN1 AK1 esv2461577 1 114143720 114144903 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265549 S 1 0 1 RSBN1 NA18507 nsv819786 1 114245635 114247761 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419389 S 2 0 1 AP4B1 AK1 nsv523196 1 114291212 114291496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698912 S 2026 0 1 HIPK1 nsv463284 1 114387113 114425390 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539306 S 1557 0 1 "" 1780862015_A nsv528503 1 114450770 114455198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705108 S 2026 0 1 SYT6 nsv2476 1 114452945 114485558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1349 S 9 1 0 SYT6 NA19240 nsv517962 1 114477914 114479520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695375 S 2026 0 1 SYT6 nsv2487 1 114535431 114580065 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2326 S 9 0 1 "" NA18555 esv1219589 1 114549413 114549413 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134041 S 2 1 0 "" HuRef esv2570808 1 114569407 114569513 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330839 S 1 0 1 "" NA18507 dgv9n17 1 114605048 114638544 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437024,nsv437036 M 60 0 2 "" NA10857,NA12752 nsv437959 1 114609082 114610154 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468019,nssv468008,nssv467997,nssv468030 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10857,NA12044,NA12752,NA12760 esv28734 1 114720853 115349442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20196 S 451 0 1 AMPD1,BCAS2,CSDE1,DENND2C,NRAS,SIKE1,SYCP1,TRIM33 NA18523 nsv831104 1 114799646 114971379 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448795 S 95 0 1 BCAS2,DENND2C,TRIM33 esv2474891 1 114844381 114845777 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184224 S 1 0 1 TRIM33 NA18507 esv2102268 1 114844840 114845544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783462 S 1 0 1 TRIM33 NA18507 nsv2498 1 114979175 115012698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1358 S 9 1 0 DENND2C NA19240 nsv824265 1 115113906 115118486 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434879,nssv1440827 M 31 2 0 SIKE1 NA18942,NA18969 esv8837 1 115186487 115186574 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31278 S 1 1 0 "" SJK nsv524392 1 115209396 115261592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700309 S 2026 1 0 SYCP1 nsv528883 1 115220544 115392521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705564 S 2026 0 1 SYCP1,TSHB,TSPAN2 esv2610148 1 115245732 115247352 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191894 S 1 0 1 SYCP1 NA18507 esv2347804 1 115246417 115247137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869932 S 1 0 1 SYCP1 NA18507 dgv333n71 1 115249390 115293921 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872162,nsv872163 M 6533 0 2 SYCP1 SP53041,SP56004 nsv872164 1 115260968 115368615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509444 S 6533 0 1 SYCP1 SP54792 esv26121 1 115364825 115904214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19081,esv18479,esv11355 M 451 0 6 NGF,TSHB,TSPAN2 NA11931,NA11995,NA12287,NA12749,NA18517,NA18523 nsv463295 1 115373888 115410726 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539317 S 1557 0 1 TSHB,TSPAN2 1780854464_A nsv872165 1 115411614 115444341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585723 S 6533 0 1 TSPAN2 IS37639 essv18166 1 115442852 116082343 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CASQ2,NGF,VANGL1 NA12057 esv2570867 1 115507074 115508788 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286590 S 1 0 1 "" NA18507 essv21938 1 115522766 115908860 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NGF NA12057 esv34370 1 115525218 115969481 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986672,essv6978649,essv6978648,essv6978647,essv6990265 M 771 1 0 NGF NA12057 nsv818389 1 115529471 115870562 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416214 S 112 1 0 NGF NA12057 esv2937 1 115598316 115598887 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25378 S 1 0 1 Single Asian sample YH "" YH esv5685 1 115598412 115598703 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28126 S 1 0 1 "" SJK esv988866 1 115598422 115598705 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570175 S 3 0 1 "" HuRef esv1361446 1 115598425 115598709 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108038 S 2 0 1 "" HuRef nsv159371 1 115681450 115686021 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177949 M 24 NGF nsv523503 1 115699858 115708532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699274 S 2026 0 1 "" esv2378285 1 115715254 115715693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516840 S 1 0 1 "" NA18507 esv1009342 1 115818177 115818878 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586199 S 3 1 0 "" HuRef esv2011660 1 115912498 115912945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770204 S 1 0 1 "" NA18507 esv27976 1 115936840 116479150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12135,esv10537,esv15965 M 451 0 19 CASQ2,MAB21L3,NHLH2,SLC22A15,VANGL1 NA11931,NA12004,NA12006,NA12044,NA12239,NA12287,NA12749,NA12828,NA12878,NA15510,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114 nsv2509 1 116001788 116037547 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4520 S 9 0 1 VANGL1 NA12878 nsv831115 1 116005394 116195842 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448806 S 95 1 0 CASQ2,NHLH2,VANGL1 esv994532 1 116030666 116038610 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563468 S 3 0 1 VANGL1 HuRef dgv69n67 1 116030693 116034322 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824276,nsv824287 M 31 0 13 VANGL1 AK18,AK20,AK4,AK8,NA18542,NA18552,NA18592,NA18942,NA18951,NA18968,NA18969,NA18973,NA18997 esv7661 1 116030972 116034368 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30102 S 1 0 1 VANGL1 SJK nsv524619 1 116034933 116086467 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700580 S 2026 1 0 CASQ2,VANGL1 nsv508559 1 116104464 116181414 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618986 S 4 0 1 CASQ2,NHLH2 NA10860 esv2458208 1 116104987 116105977 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263430 S 1 1 0 CASQ2 NA18507 esv2522498 1 116223332 116224180 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288889 S 1 1 0 "" NA18507 esv988278 1 116267848 116267853 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573833 S 3 1 0 "" HuRef esv1308427 1 116267849 116267849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912573 S 2 1 0 "" HuRef nsv2522 1 116344127 116364486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5797 S 9 1 0 SLC22A15 NA19129 nsv528884 1 116380539 116447280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705565 S 2026 0 1 SLC22A15 nsv831126 1 116407726 116575906 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448817 S 95 1 0 MAB21L3,SLC22A15 nsv831137 1 116511148 116662942 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448828 S 95 1 0 "" esv27816 1 116535150 116536098 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16476 S 451 0 1 "" NA19190 nsv824298 1 116538060 116539104 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434189 S 31 0 1 "" NA18570 nsv2533 1 116711920 116746675 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4529 S 9 1 0 ATP1A1,ATP1A1OS NA12878 nsv2544 1 116769049 116800531 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9577,nssv7471 M 9 2 0 "" NA12156,NA18507 esv2599033 1 116779872 116782183 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317602 S 1 0 1 "" NA18507 esv1442169 1 116781143 116781143 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690182 S 2 1 0 "" HuRef esv1547911 1 116781171 116781171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776647 S 2 1 0 "" HuRef esv267999 1 116785066 116785397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542346,essv2543929,essv2576287,essv2562067,essv2539975,essv2520911,essv2552371,essv2569530,essv2578860,essv2537114,essv2539150,essv2561712,essv2561190,essv2541941,essv2568870,essv2562504,essv2573012,essv2573721,essv2575333,essv2526395,essv2523980,essv2568643,essv2560368,essv2549883,essv2545886,essv2551641 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA11992,NA12814,NA12874,NA18489,NA18498,NA18502,NA18508,NA18510,NA18517,NA18519,NA18523,NA18562,NA18856,NA18861,NA18909,NA18942,NA18964,NA19102,NA19114,NA19129,NA19147,NA19190,NA19225,NA19239,NA19257 esv272235 1 116785068 116785400 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580321,essv2580000,essv2580856 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238 esv274933 1 116794680 116796213 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585730,essv2585779 M 1250 1 1 "" esv2160373 1 116803486 116803996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694782 S 1 0 1 "" NA18507 esv2512482 1 116879168 116880644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227705 S 1 0 1 CD58 NA18507 esv2209199 1 116879514 116880206 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668621 S 1 0 1 CD58 NA18507 esv3433 1 116879647 116880162 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25874 S 1 0 1 Single Asian sample YH CD58 YH esv7455 1 116879700 116880012 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29896 S 1 0 1 CD58 SJK esv267986 1 116892754 116892888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513224,essv2495066 M 157 2 0 Samples from several populations that are part of the HapMap project. CD58 NA07051,NA12249 esv1003883 1 116914159 116917682 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565008 S 3 0 1 CD58 HuRef nsv482103 1 116918554 117011837 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558464 S 1 1 0 IGSF3 KB1 nsv831148 1 116927827 117128034 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448928,nssv1448906,nssv1448839,nssv1448851,nssv1448939,nssv1448950,nssv1448884,nssv1448917,nssv1448862,nssv1448873,nssv1448895 M 95 11 0 CD2,IGSF3,MIR320B1 esv28283 1 116931478 117006700 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19258,esv11342,esv15338 M 451 22 1 IGSF3 NA06985,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12828,NA12878,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225 nsv824309 1 116931478 117008345 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428044,nssv1428839,nssv1430365,nssv1437960,nssv1423140,nssv1434190,nssv1440142,nssv1424761,nssv1433438,nssv1438601,nssv1423664,nssv1429579,nssv1431095,nssv1421470,nssv1440830,nssv1437774,nssv1436355,nssv1426408 M 31 18 0 IGSF3 AK10,AK12,AK14,AK16,AK18,AK2,AK6,NA18526,NA18542,NA18547,NA18564,NA18570,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv10661 1 116958653 117005673 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16437,nssv23060,nssv18075,nssv24000,nssv17073,nssv22094,nssv19431,nssv16759,nssv17076,nssv16421,nssv17078 M 31 7 4 Samples from several populations that are part of the HapMap project. IGSF3 NA07048,NA10839,NA10863,NA12155,NA12872,NA18517,NA18537,NA18572,NA18860,NA18972,NA19132 dgv89e1 1 116966438 117076198 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12549,essv21255,essv8876,essv11977,essv7159,essv13619,essv23226,essv14578,essv3795,essv7566,essv22642,essv7094,essv17555,essv5908,essv8620,essv11227,essv15089,essv8160,essv20155,essv1902,essv24430,essv15717,essv9067,essv6905,essv18842,essv3370,essv4070,essv14164,esv303,essv23053,essv17285,essv20091,essv19965,essv8372,essv9125,essv19584,essv10875,essv19083,essv25001,essv16780,essv17727,essv12211,essv16235,essv18715,essv4154,essv22381,essv22960,essv22443,essv16830,essv14693,essv17761,essv2216,essv23528,essv22323,essv24858,essv19397,essv10296 M 271 0 0 IGSF3,MIR320B1 NA06985,NA06993,NA07000,NA07029,NA07048,NA07055,NA07357,NA10831,NA10839,NA10855,NA11832,NA11840,NA12707,NA12751,NA12752,NA12761,NA12762,NA12812,NA12813,NA12864,NA12872,NA12874,NA12875,NA18506,NA18508,NA18517,NA18537,NA18545,NA18547,NA18550,NA18555,NA18605,NA18635,NA18856,NA18858,NA18860,NA18871,NA18872,NA18943,NA18945,NA18960,NA18976,NA19098,NA19101,NA19127,NA19129,NA19131,NA19132,NA19140,NA19159,NA19161,NA19202,NA19204,NA19205,NA19206,NA19239 nsv428190 1 116966438 117076198 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451008,nssv450964,nssv450997,nssv450986,nssv450953,nssv450975 M 62 6 0 IGSF3,MIR320B1 HGDP01086,HGDP01087,HGDP01088,HGDP01094,NA19147,NA19181 esv33190 1 116970419 117005075 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100948,essv94325,essv95367,essv96164,essv93479,essv99589,essv94250 M 51 6 1 IGSF3 21693,21808,21872,22007,22128,22217,22394 esv32882 1 117008200 117008585 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100881 S 51 1 0 IGSF3 21656 nsv2555 1 117071656 117102963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10985 S 9 1 0 CD2 NA15510 esv274071 1 117123911 117124051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581080 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv831159 1 117188850 117385135 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448962,nssv1448973 M 95 0 2 CD101,PTGFRN nsv2566 1 117215569 117260677 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7478 S 9 0 1 PTGFRN NA12156 nsv519074 1 117265238 117267427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696546 S 2026 0 1 PTGFRN nsv517575 1 117345854 117346225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672610,nssv690363,nssv652415 M 2026 0 3 CD101 nsv518833 1 117399424 117403600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694278 S 2026 0 1 "" nsv2577 1 117577428 117609986 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5807 S 9 1 0 "" NA19129 nsv521455 1 117633695 117645774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698066 S 2026 1 0 "" nsv819174 1 117682003 117683406 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419255 S 2 1 0 "" AK1 nsv824320 1 117682118 117683127 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424237,nssv1434881,nssv1434191,nssv1435673,nssv1433439 M 31 5 0 "" NA18526,NA18566,NA18570,NA18942,NA18947 nsv821203 1 117682118 117683546 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420558 S 1 0 1 "" NA10851 esv28950 1 117682243 117683418 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19672,esv10519 M 451 12 0 "" NA11931,NA11993,NA11995,NA12006,NA12878,NA15510,NA18517,NA18858,NA18907,NA18909,NA18916,NA19129 esv1005427 1 117730543 117737162 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565039 S 3 0 1 MAN1A2 HuRef nsv872166 1 117737633 117800887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517957 S 6533 0 1 MAN1A2 SP57418 esv2224574 1 117753389 117753800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518991 S 1 0 1 MAN1A2 NA18507 nsv831170 1 117780953 117951577 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448984 S 95 1 0 FAM46C,MAN1A2 nsv519780 1 117781355 117831124 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660982,nssv658550 M 2026 2 0 MAN1A2 nsv819679 1 117811591 117815812 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419615 S 2 0 1 MAN1A2 AK1 nsv506956 1 117813695 117819695 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617539,nssv623284,nssv619249 M 4 3 0 MAN1A2 CHM,NA10860,NA18994 esv23226 1 117871295 117877347 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9955 S 451 0 1 "" NA18909 esv5132 1 117892543 117892846 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27573 S 1 0 1 Single Asian sample YH "" YH esv993315 1 117892570 117892787 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581163 S 3 0 1 "" HuRef esv1327947 1 117892574 117892796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973539 S 2 0 1 "" HuRef esv8011 1 117892578 117892785 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30452 S 1 0 1 "" SJK nsv518885 1 117920159 117923157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696344 S 2026 0 1 "" nsv819506 1 117968996 117970228 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419207 S 2 1 0 FAM46C AK1 nsv526227 1 118079046 118085413 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702493 S 2026 1 0 "" esv270932 1 118181172 118181445 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2535257,essv2541091,essv2538326,essv2540334,essv2549058 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA12249,NA18545,NA18547,NA18552 nsv528470 1 118222632 118300577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705073 S 2026 0 1 GDAP2,SPAG17,WDR3 esv34191 1 118228296 118547581 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GDAP2,SPAG17,WDR3 esv2641236 1 118246176 118247492 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190360 S 1 0 1 GDAP2 NA18507 nsv872167 1 118433839 118498486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507181 S 6533 0 1 SPAG17 SP54490 esv2608205 1 118441000 118442385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207238 S 1 0 1 SPAG17 NA18507 esv5742 1 118454861 118454933 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28183 S 1 1 0 SPAG17 SJK esv1542324 1 118663037 118663037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285551 S 2 1 0 "" HuRef esv1367208 1 118663501 118663501 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905395 S 2 1 0 "" HuRef nsv523041 1 118671456 118680179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698724 S 2026 0 1 "" nsv872168 1 118710806 118804322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552334 S 6533 0 1 "" MS19345 nsv2588 1 118721481 118726986 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3053 S 9 1 0 "" NA18555 nsv509446 1 118730977 118738052 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623792,nssv619812,nssv621101 M 4 3 0 "" NA10860,NA15510,NA18994 esv2493040 1 118731074 118733413 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277847 S 1 0 1 "" NA18507 esv1381703 1 118731561 118731561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314009 S 2 1 0 "" HuRef esv1486473 1 118733253 118733253 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678501 S 2 1 0 "" HuRef esv994128 1 118733253 118733253 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563460 S 3 1 0 "" HuRef esv1771959 1 118745615 118745673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674742 S 2 0 1 "" HuRef nsv525369 1 118789411 118794484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701489 S 2026 0 1 "" esv21930 1 118791325 118791888 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19348 S 451 0 2 "" NA18523,NA18858 nsv872169 1 118881089 118918690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504716 S 6533 1 0 "" SP52716 esv267692 1 118882197 118882525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557865,essv2540745,essv2571797,essv2546218,essv2526263,essv2542604,essv2536673,essv2522675,essv2545437,essv2523183,essv2531931,essv2577236,essv2570610,essv2548166,essv2550566,essv2550408,essv2535231,essv2552172,essv2547436,essv2558591,essv2577869,essv2553831,essv2576436,essv2520015,essv2554821,essv2530752,essv2561883,essv2537630,essv2528650,essv2547109,essv2520761,essv2551665,essv2558724,essv2544739,essv2562869,essv2524363,essv2549502,essv2522062,essv2566073,essv2532866,essv2535745,essv2578307,essv2533687,essv2566433,essv2527483,essv2573575,essv2538705,essv2526649,essv2574974,essv2536111,essv2538079,essv2548812,essv2533346,essv2554388,essv2547671,essv2524778,essv2563279 M 157 57 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12155,NA12234,NA12249,NA12489,NA12717,NA12750,NA12761,NA12763,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18504,NA18516,NA18526,NA18532,NA18555,NA18564,NA18571,NA18572,NA18576,NA18608,NA18940,NA18944,NA18948,NA18952,NA18964,NA19108,NA19114,NA19138 esv273141 1 118882197 118882525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581742,essv2582311,essv2582878 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv506957 1 118926444 118932444 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617540 S 4 1 0 "" CHM esv2750799 1 119030780 119183750 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981003,essv6981001,essv6981002 M 771 1 0 "" BEC_336 nsv872170 1 119082606 119102270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526905 S 6533 0 1 "" SP57958 nsv519487 1 119091517 119092905 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696878 S 2026 1 0 "" esv1123110 1 119128531 119128583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251508 S 2 0 1 "" HuRef nsv831181 1 119141698 119330870 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448995 S 95 1 0 TBX15 nsv528214 1 119182451 119185341 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704775 S 2026 1 0 "" nsv524681 1 119235041 121013322 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700652 S 2026 1 0 ADAM30,EMBP1,FAM72B,FCGR1B,HAO2,HIST2H2BA,HMGCS2,HSD3B1,HSD3B2,HSD3BP4,LOC644242,NBPF7,NOTCH2,PHGDH,REG4,TBX15,WARS2,ZNF697 nsv160473 1 119237609 119237688 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179051 M 24 TBX15 nsv506958 1 119237720 119243720 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619250 S 4 1 0 TBX15 NA10860 esv25417 1 119284005 119285149 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13911 S 451 0 2 TBX15 NA18508,NA18861 esv271032 1 119354850 119355925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565862,essv2521128,essv2525850,essv2542370,essv2536454,essv2570405,essv2521780,essv2535475,essv2547169,essv2576167,essv2564193,essv2530631,essv2523721,essv2552841,essv2541241,essv2538219,essv2542671,essv2524671,essv2564823,essv2534827,essv2539756,essv2549508,essv2519584,essv2559860,essv2522079,essv2532816,essv2528991,essv2567592,essv2541776,essv2570307,essv2563805,essv2553317,essv2572428,essv2555184,essv2533445,essv2567255,essv2566459,essv2529908,essv2573826,essv2555961,essv2522496,essv2531619,essv2571886,essv2548821,essv2524921 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11829,NA11894,NA11918,NA11919,NA11920,NA12044,NA12144,NA12249,NA12717,NA12814,NA12828,NA12873,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18973 esv5253 1 119360214 119360883 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27694 S 1 0 1 Single Asian sample YH "" YH esv6867 1 119360309 119360611 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29308 S 1 0 1 "" SJK dgv16n21 1 119383423 119390866 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517843,nsv517011 M 2026 0 3 WARS2 esv2475310 1 119389534 119391041 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253587 S 1 0 1 WARS2 NA18507 nsv521813 1 119390866 119420971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694585 S 2026 0 1 WARS2 nsv831192 1 119472695 119644749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449006 S 95 1 0 WARS2 esv34089 1 119553635 119874484 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 HAO2,HSD3B1,HSD3B2 nsv159961 1 119608879 119608934 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178539 M 24 "" esv1007303 1 119678163 119678269 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565805 S 3 1 0 "" HuRef esv1759268 1 119733314 119733314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862461 S 2 1 0 HAO2 HuRef nsv2599 1 119736546 119769271 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4648 S 9 0 1 HAO2,HSD3B2 NA19129 nsv470733 1 119792952 119819678 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547763 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00623 esv2598112 1 119813839 119815703 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357444 S 1 0 1 "" NA18507 esv2243415 1 119814182 119815328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670944 S 1 0 1 "" NA18507 esv4227 1 119814298 119815334 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26668 S 1 0 1 Single Asian sample YH "" YH esv23371 1 119814376 119815139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14752 S 451 0 1 "" NA19114 dgv90e1 1 119818219 120016100 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv755,essv5235,essv6886,essv16001 M 271 0 0 HSD3B1,HSD3BP4,LOC644242,ZNF697 NA18501,NA18605,NA18624 nsv524727 1 119825494 119857924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700715 S 2026 0 1 HSD3B1 esv5682 1 119874093 119936891 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28123 S 1 0 1 HSD3BP4 SJK esv24085 1 119886652 119888630 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16442 S 451 1 0 "" NA18909 nsv470734 1 119892956 119947406 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547764 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSD3BP4,LOC644242 HGDP00451 nsv520283 1 119892957 119928513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694079 S 2026 1 0 HSD3BP4 nsv818400 1 119892957 119928513 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417674 S 112 1 0 HSD3BP4 NA18994 dgv334n71 1 119894835 119933120 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872172,nsv872171,nsv872174 M 6533 9 0 HSD3BP4 SP50857,SP51216,SP51339,SP52110,SP53368,SP54448,SP54621,SP54650,SP57273 dgv335n71 1 119894835 119953605 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872173,nsv872177,nsv872175 M 6533 3 0 HSD3BP4,LOC644242 SP51293,SP54753,SP57665 dgv91e1 1 119900184 119959289 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6559,essv182 M 271 0 0 HSD3BP4,LOC644242 NA18624,NA18994 nsv872176 1 119901503 119947406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587705,nssv1552051,nssv1547171,nssv1538039,nssv1570973,nssv1579576 M 6533 0 6 HSD3BP4,LOC644242 IS32395,IS35140,IS38101,MS13461,MS17223,MS19143 esv2600511 1 119903367 119942193 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281567 S 1 0 1 HSD3BP4,LOC644242 NA18507 esv23971 1 119906489 119915469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14340 S 451 0 3 HSD3BP4 NA18907,NA19190,NA19225 nsv463306 1 119909006 119941185 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539328 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSD3BP4 HGDP00929 nsv463317 1 119909125 119964310 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539339 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSD3BP4,LOC644242,ZNF697 HGDP00454 dgv92e1 1 119911597 119963965 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5684,essv5768,essv9585,essv13333 M 271 0 0 HSD3BP4,LOC644242,ZNF697 NA18500,NA18501,NA18540,NA18605 nsv515644 1 119911627 119956126 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664227,nssv686754,nssv674581,nssv659972,nssv660320,nssv669315,nssv658403,nssv687510,nssv657486,nssv665922,nssv659153,nssv665214,nssv656958,nssv702176 M 2026 1 13 HSD3BP4,LOC644242 nsv872178 1 119912525 119951975 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506730 S 6533 1 0 HSD3BP4,LOC644242 SP54399 nsv441711 1 119916400 119951038 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HSD3BP4,LOC644242 dgv30n27 1 119916907 119947406 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463328,nsv463339 M 1557 2 0 LOC644242 HGDP01238,HGDP01361 nsv437239 1 119917246 119934846 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467120 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv6843 1 119917495 119955202 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29284 S 1 0 1 LOC644242 SJK nsv437971 1 119924945 119929020 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468052,nssv468041 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501 nsv872179 1 119933120 119964310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514633 S 6533 0 1 LOC644242,ZNF697 SP56041 esv27297 1 119943910 119951764 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16630 S 451 3 0 "" NA18907,NA19190,NA19225 nsv508034 1 119960961 119966961 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621477,nssv618505 M 4 0 2 ZNF697 CHM,NA15510 nsv831204 1 120067972 120115614 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449050,nssv1449017,nssv1449039,nssv1449028 M 95 3 1 HMGCS2,PHGDH nsv831215 1 120067972 120249992 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449117,nssv1449128,nssv1449161,nssv1449139,nssv1449084,nssv1449106,nssv1449150,nssv1449073,nssv1449172,nssv1449095,nssv1449184,nssv1449195,nssv1449061,nssv1449206 M 95 14 0 ADAM30,HMGCS2,NBPF7,PHGDH,REG4 dgv93e1 1 120068836 120498679 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2571,essv11724,essv826,essv11245,essv3418,essv7399,essv1406 M 271 0 0 ADAM30,HMGCS2,NBPF7,NOTCH2,PHGDH,REG4 NA18623,NA18945,NA18973,NA18990,NA19007,NA19154,NA19204 nsv428201 1 120068836 120498679 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451042,nssv451020,nssv451053,nssv451097,nssv451086,nssv451075,nssv451108,nssv451031 M 62 8 0 ADAM30,HMGCS2,NBPF7,NOTCH2,PHGDH,REG4 HGDP00449,HGDP00450,HGDP00462,HGDP00986,HGDP01089,HGDP01094,NA18916,NA19096 dgv94e1 1 120068836 121047873 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22415,esv88 M 271 0 0 ADAM30,EMBP1,FAM72B,FCGR1B,HIST2H2BA,HMGCS2,NBPF7,NOTCH2,PHGDH,REG4 NA10861 nsv831226 1 120133122 120324991 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449228,nssv1449217 M 95 1 1 ADAM30,NBPF7,NOTCH2,REG4 nsv872180 1 120167578 120214408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590821 S 6533 0 1 NBPF7 IS38592 nsv10672 1 120188508 120211530 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19092 S 31 1 0 Samples from several populations that are part of the HapMap project. NBPF7 NA18502 nsv436325 1 120192437 120335637 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466262 S 2 0 1 Samples from several populations that are part of the HapMap project. ADAM30,NOTCH2 NA18505 nsv2610 1 120252583 120284658 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7484 S 9 0 1 NOTCH2 NA12156 dgv95e1 1 120270573 120380184 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2161,essv11166 M 271 0 0 NOTCH2 NA18960,NA19211 dgv96e1 1 120270573 120498679 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21516,essv22679,essv3206,essv17763,essv18958,essv2433,essv5065,essv3013,essv17605,essv22595,essv4682,essv16917,essv1755,essv548,essv6162,essv22070,essv5603,essv11006,essv24279,essv23192,essv21843,essv4918,essv7140,essv1145,essv7802,essv5113,essv23243,essv23448,essv24782,essv24972,essv6301,essv4574,essv22979,essv4412,essv15631,essv20379,essv15588,essv2827,essv5365,essv5820,essv1605,essv18408,essv7287,essv4302,essv6647,essv6890,essv24740,essv6630,essv20592,essv23772,essv20321,essv16521,essv4975,essv8184,essv20078,essv18144,essv19244,essv19979,essv12756,essv18722,essv23922,essv21418,essv21983,essv21210,essv3789,essv1448,essv22370,essv24399,essv1163,essv422,essv2883,essv23589,essv2622,essv24833,essv17434,essv140,essv17503,essv3106,essv3970,essv23831,essv22865,essv402 M 271 0 0 NOTCH2 NA07000,NA07022,NA07029,NA07048,NA07056,NA07348,NA07357,NA10830,NA10831,NA10838,NA10839,NA10854,NA10856,NA10860,NA11829,NA11830,NA11839,NA11993,NA11995,NA12005,NA12006,NA12043,NA12154,NA12156,NA12236,NA12249,NA12707,NA12717,NA12752,NA12753,NA12760,NA12762,NA12763,NA12813,NA12814,NA12873,NA12874,NA12875,NA18524,NA18529,NA18532,NA18547,NA18558,NA18561,NA18563,NA18566,NA18573,NA18576,NA18577,NA18592,NA18603,NA18605,NA18608,NA18609,NA18621,NA18622,NA18637,NA18912,NA18914,NA18942,NA18943,NA18944,NA18951,NA18952,NA18953,NA18964,NA18967,NA18968,NA18969,NA18970,NA18971,NA18974,NA18981,NA18987,NA18997,NA18998,NA18999,NA19116,NA19137,NA19143,NA19144,NA19210 dgv97e1 1 120270573 120883965 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1868,essv66,essv4658,essv5231,essv4776 M 271 0 0 FAM72B,FCGR1B,HIST2H2BA,NOTCH2 NA18594,NA18620,NA18624,NA18976,NA18991 nsv820378 1 120328470 120449163 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420569 S 1 1 0 NOTCH2 NA10851 esv22009 1 120328470 120498601 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11320,esv15218,esv20760 M 451 23 5 NOTCH2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18916,NA19099 nsv824331 1 120328929 120449163 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428842,nssv1430366,nssv1437961,nssv1428045,nssv1437785,nssv1424249,nssv1427280,nssv1423142,nssv1433440,nssv1434882,nssv1431836,nssv1422387,nssv1437240,nssv1423686,nssv1438602,nssv1435675,nssv1432296,nssv1433296,nssv1434192,nssv1429580,nssv1425522,nssv1440143,nssv1440831,nssv1424762,nssv1421471,nssv1439477,nssv1436356,nssv1431097,nssv1423972,nssv1426410 M 31 30 0 NOTCH2 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv10683 1 120332098 120432443 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20760,nssv17403,nssv17089,nssv24294,nssv16751,nssv17408,nssv16417,nssv18062,nssv16762,nssv18086,nssv18437,nssv23370,nssv15445,nssv18422 M 31 13 0 Samples from several populations that are part of the HapMap project. NOTCH2 NA07029,NA07048,NA10839,NA11830,NA12155,NA12872,NA18563,NA18572,NA18942,NA18972,NA18980,NA19007,NA19221 dgv98e1 1 120335001 120498679 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18636,essv20124 M 271 0 0 NOTCH2 NA07345,NA12234 nsv514912 1 120336200 120391104 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628454 S 1414 0 0 NOTCH2 nsv872181 1 120336329 120710025 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592579 S 6533 1 0 FAM72B,HIST2H2BA,NOTCH2 IS39243 nsv435845 1 120436583 120493487 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466273 S 2 0 1 "" NA15510 dgv336n71 1 120461416 120676851 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872184,nsv872182,nsv872183 M 6533 3 0 FAM72B IS31706,MS13757,SP56380 esv26241 1 120557209 120738188 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20146,esv20642 M 451 25 1 FAM72B,FCGR1B,HIST2H2BA NA07045,NA11931,NA12006,NA12239,NA12287,NA12414,NA12489,NA12776,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv337n71 1 120560178 120813152 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872185,nsv872189,nsv872187 M 6533 3 0 FAM72B,FCGR1B,HIST2H2BA IS38993,MS12466,MS12991 nsv831237 1 120568788 120671324 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449418,nssv1449462,nssv1449395,nssv1449384,nssv1449429,nssv1449451,nssv1449318,nssv1449440,nssv1449329,nssv1449307,nssv1449250,nssv1449340,nssv1449351,nssv1449261,nssv1449283,nssv1449407,nssv1449272,nssv1449362,nssv1449373,nssv1449239,nssv1449296 M 95 21 0 FAM72B dgv338n71 1 120569493 120733818 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872186,nsv872188,nsv872190 M 6533 3 0 FAM72B,FCGR1B,HIST2H2BA MS15749,MS15813,MS24330 nsv10694 1 120604676 120605212 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24584 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv10705 1 120606505 120607290 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19422,nssv16767 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132 nsv872191 1 120607556 120710025 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558855 S 6533 1 0 FAM72B,HIST2H2BA MS23582 nsv10717 1 120610192 120611049 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21090 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv10728 1 120613472 120613699 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15775,nssv17097 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18980,NA19132 nsv10739 1 120614452 120615820 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17086,nssv20759 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA19173 nsv10750 1 120616343 120619191 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17738,nssv19752,nssv17427,nssv21420 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA19132,NA19221 nsv10761 1 120619191 120622746 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17416 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv161091 1 120689195 120697970 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179669 M 24 "" nsv2621 1 120690044 120724393 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1379 S 9 1 0 HIST2H2BA NA19240 nsv10772 1 120711823 120734588 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17746,nssv24899 M 31 2 0 Samples from several populations that are part of the HapMap project. FCGR1B,HIST2H2BA NA18552,NA18972 esv28381 1 120788253 120844675 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11495,esv17319,esv15023 M 451 22 1 "" NA07037,NA07045,NA11931,NA11993,NA12006,NA12287,NA12414,NA12489,NA12776,NA15510,NA18502,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 nsv824342 1 120788253 120851924 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430367,nssv1428843,nssv1428046,nssv1440832,nssv1433407,nssv1427281,nssv1437796,nssv1434193,nssv1423143,nssv1422388,nssv1424262,nssv1423697,nssv1433442,nssv1438603,nssv1423973,nssv1437964,nssv1432308,nssv1434883,nssv1439478,nssv1429581,nssv1431098,nssv1440144,nssv1431837,nssv1421473,nssv1425523,nssv1436357,nssv1424763,nssv1435676,nssv1426411,nssv1437242 M 31 30 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv10783 1 120788984 120808025 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21780 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv831248 1 120792187 120861332 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449473 S 95 0 1 "" nsv820880 1 120805585 120840316 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420580 S 1 1 0 "" NA10851 nsv506959 1 120830477 120836477 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623285 S 4 1 0 "" NA18994 nsv872192 1 120842883 120898786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516037 S 6533 1 0 "" SP56380 nsv872193 1 120842883 120975198 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522670 S 6533 1 0 EMBP1 SP53329 dgv339n71 1 120842883 121072101 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872195,nsv872194 M 6533 2 0 EMBP1 IS38402,MS12606 dgv31n27 1 120866130 121013322 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463406,nsv463395,nsv463350,nsv463383,nsv463361,nsv463372 M 1557 6 0 EMBP1 1780854327_A,1780862227_A,1780862433_A,1780862597_A,1782681236_A,NINDS_230 dgv6e55 1 120874363 120992603 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750800,esv2750801,esv2750802 M 771 3 0 EMBP1 BEC_148,BEC_506,BEC_712 nsv521003 1 120902013 121013322 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685111,nssv680164,nssv679659 M 2026 3 0 EMBP1 esv1696369 1 120916540 120916540 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098034 S 2 1 0 "" HuRef dgv340n71 1 120941286 121006844 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872197,nsv872196 M 6533 0 14 EMBP1 IS34830,IS35701,IS35789,IS36882,IS37443,IS39512,IS41860,IS41889,IS41921,IS41926,IS41933,MS16711,MS21325,MS23257 dgv341n71 1 120941286 121072101 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872199,nsv872198 M 6533 2 0 EMBP1 IS34613,IS38220 nsv872200 1 121006844 121072101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594625 S 6533 0 1 EMBP1 IS39958 esv26616 1 121051719 121186717 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13553,esv12704,esv14098,esv17940 M 451 23 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12776,NA15510,NA18502,NA18505,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19225,NA19240 esv2593122 1 121054429 121057333 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174412 S 1 0 1 "" NA18507 esv6533 1 121055899 121057595 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28974 S 1 0 1 "" SJK esv5873 1 121056749 121061531 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28314 S 1 0 1 "" SJK esv4790 1 121057645 121183495 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27231 S 1 0 0 Single Asian sample YH "" YH esv6391 1 121057687 121058717 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28832 S 1 0 1 "" SJK esv9701 1 121059627 121087784 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32142 S 1 0 1 "" SJK nsv436809 1 121070536 121078284 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466295 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv8082 1 121144003 121184864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30523 S 1 0 1 "" SJK nsv436749 1 121173022 121175448 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466328 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436002 1 121176554 121180185 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466339 S 2 1 0 "" NA15510 esv6938 1 121176642 121185273 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29379 S 1 0 1 "" SJK esv8020 1 121180241 121184802 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30461 S 1 0 1 "" SJK nsv436029 1 121182435 121184678 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466350 S 2 1 0 "" NA15510 esv2447499 1 121183135 121183470 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203576 S 1 0 1 "" NA18507 nsv435931 1 121184933 121185222 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466362 S 2 1 0 "" NA15510 esv2572262 1 121185138 121185590 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384957 S 1 0 1 "" NA18507 esv6911 1 121185895 121185950 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29352 S 1 1 0 "" SJK esv7712 1 121186065 121186123 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30153 S 1 1 0 "" SJK esv4181 1 121186329 121186874 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26622 S 1 0 0 Single Asian sample YH "" YH esv2543522 1 121186370 121186708 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302426 S 1 1 0 "" NA18507 dgv4n16 1 121186433 121186651 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435930,nsv436779 M 2 2 0 "" NA15510,NA18505 nsv436018 1 121186559 121186683 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466395 S 2 1 0 "" NA15510 esv6525 1 121186645 121186708 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28966 S 1 1 0 "" SJK esv274205 1 121186663 121186748 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581624 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv270318 1 121186758 121190050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517876,essv2513801 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19143 esv4364 1 121186759 121186814 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26805 S 1 0 0 Single Asian sample YH "" YH esv22640 1 141477044 141484457 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10912,esv18679 M 451 0 19 "" NA11995,NA12004,NA12239,NA12287,NA12749,NA12878,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18916,NA19099,NA19147,NA19190,NA19225,NA19240 esv5714 1 141477077 141478880 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28155 S 1 0 1 "" SJK esv2595904 1 141477080 141480041 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385825 S 1 0 1 "" NA18507 esv6966 1 141477338 141477409 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29407 S 1 1 0 "" SJK esv7690 1 141477459 141481927 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30131 S 1 0 1 "" SJK esv6312 1 141479404 141479693 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28753 S 1 0 1 "" SJK esv5740 1 141479536 141479618 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28181 S 1 1 0 "" SJK esv7944 1 141480437 141481821 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30385 S 1 0 1 "" SJK esv7736 1 141481805 141483655 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30177 S 1 0 1 "" SJK esv8914 1 141481983 141482469 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31355 S 1 0 1 "" SJK dgv5n16 1 141482868 141906719 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436651,nsv435945,nsv435946 M 2 0 0 "" NA15510,NA18505 esv268615 1 141486349 141486434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517137 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv1004001 1 141531158 141531158 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580798 S 3 1 0 "" HuRef nsv436812 1 141581532 141974352 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466439 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv6n16 1 141588805 142076541 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436099,nsv436337,nsv436410 M 2 0 1 "" NA18505 esv28975 1 141599178 141672515 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21278,esv20736,esv11848 M 451 4 2 "" NA06985,NA12006,NA12828,NA18523,NA19099,NA19108 esv1917300 1 141668813 141669728 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807359 S 1 0 1 "" NA18507 esv22446 1 141722575 141733274 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11144,esv12067 M 451 0 2 "" NA06985,NA18916 nsv435970 1 141726101 142096907 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466484 S 2 0 0 "" NA15510 nsv436010 1 141732038 141739216 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466495 S 2 1 0 "" NA15510 nsv436371 1 141732168 141749558 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466506 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28428 1 141734095 141795410 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17988,esv10602 M 451 3 0 "" NA18523,NA19099,NA19108 dgv7n16 1 141741386 142273394 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436638,nsv435916,nsv436126 M 2 0 2 "" NA15510,NA18505 nsv436773 1 141750227 141754750 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466528 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv8n16 1 141772390 142243755 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436032,nsv436021 M 2 1 0 "" NA15510 nsv436751 1 141789447 141794792 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466550 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv9n16 1 141822864 141963731 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436650,nsv435972 M 2 0 0 "" NA15510,NA18505 esv5913 1 141827026 141827430 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28354 S 1 0 1 "" SJK dgv10n16 1 141862713 142368722 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436919,nsv436020,nsv436031,nsv436023 M 2 2 0 "" NA15510,NA18505 nsv436721 1 141886915 141890304 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466639 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv11n16 1 141904368 142323733 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435906,nsv435768 M 2 0 1 "" NA15510 esv997588 1 141908067 141909284 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586481 S 3 1 0 "" HuRef esv999684 1 141959285 142032471 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586715 S 3 1 0 "" HuRef esv274512 1 141966301 141966386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581039 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv27083 1 142004106 142090112 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14733,esv20270 M 451 3 1 "" NA12006,NA18523,NA19099,NA19108 esv29756 1 142090436 142111199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21331 S 451 0 1 "" NA18916 nsv436165 1 142097726 142099955 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466706 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25472 1 142119712 142134236 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11361,esv16448,esv20096 M 451 2 2 "" NA11931,NA12006,NA12828,NA12878 dgv12n16 1 142121960 142123319 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436649,nsv435971,nsv435947 M 2 0 0 "" NA15510,NA18505 nsv435948 1 142122088 142293439 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466750 S 2 0 0 "" NA15510 nsv436231 1 142134283 142274281 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466761 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25618 1 142184369 142361422 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15054,esv10023,esv13643,esv19670 M 451 3 2 "" NA11993,NA12006,NA12828,NA18523,NA19108 nsv471699 1 142206284 142356882 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549634,nssv549635 M 48 0 2 "" NA10971,NA17014 nsv436772 1 142276172 142280706 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466772 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436767 1 142302037 142305468 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466783 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436778 1 142320323 142325462 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466794 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv435998 1 142367725 142368714 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465510 S 2 1 0 "" NA15510 esv7602 1 142382257 142382319 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30043 S 1 1 0 "" SJK esv27827 1 142436913 142562145 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11765,esv15583,esv14295,esv19923,esv13520 M 451 10 0 FLJ39739,LOC100130000,LOC100286793,PPIAL4G NA11894,NA11931,NA11995,NA12004,NA12006,NA12776,NA15510,NA18505,NA18909,NA19108 esv27918 1 142612557 142807102 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21058,esv10412,esv10881,esv13234,esv15762,esv15133 M 451 20 2 SRGAP2P2 NA07045,NA11931,NA12004,NA12006,NA12239,NA12287,NA12489,NA12776,NA15510,NA18505,NA18511,NA18523,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190,NA19240,NA19257 dgv99e1 1 142642781 142807140 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4034,essv10005,essv6600 M 271 0 0 SRGAP2P2 NA18621,NA18635,NA19099 nsv428212 1 142642781 144194710 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451309,nssv451254,nssv451219,nssv451298,nssv451197,nssv451320,nssv451331,nssv451230,nssv451208,nssv451287,nssv451265,nssv451243,nssv451164,nssv451175,nssv451186 M 62 14 0 ANKRD34A,C1orf152,HFE2,LIX1L,LOC653513,LOC728855,LOC728875,NBPF10,NBPF9,NOTCH2NL,PDE4DIP,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,SEC22B,SRGAP2P2,TXNIP HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00476,HGDP00986,HGDP01089,HGDP01094,NA18916,NA19225,NA19257 nsv10805 1 142645766 142648634 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17757,nssv20082,nssv18068,nssv22110 M 31 4 0 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA12155,NA18502,NA19132,NA19221 nsv831259 1 142646350 142720164 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449506,nssv1449518,nssv1449484,nssv1449495,nssv1449529 M 95 5 0 SRGAP2P2 nsv831270 1 142646350 142797217 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449540 S 95 1 0 SRGAP2P2 nsv872202 1 142649580 142784274 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548510 S 6533 1 0 SRGAP2P2 MS17878 nsv10816 1 142649584 142650424 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18436 S 31 1 0 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA18552 nsv7881 1 142651275 142651488 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16105,nssv18087 M 31 0 2 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA18980,NA19132 nsv7892 1 142652581 142652996 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19097 S 31 1 0 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA18563 nsv7903 1 142653780 142654885 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18428,nssv22440,nssv18447 M 31 3 0 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA12155,NA19132,NA19221 nsv7914 1 142657675 142658460 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18777,nssv18758,nssv20412 M 31 3 0 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA12155,NA18502,NA19132 nsv7925 1 142659356 142660290 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25459,nssv17098 M 31 2 0 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA18972,NA19144 nsv824353 1 142684203 142730808 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429583 S 31 1 0 SRGAP2P2 AK14 nsv872203 1 142691195 144048833 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592580 S 6533 1 0 C1orf152,LOC653513,LOC728855,LOC728875,NBPF10,NBPF9,NOTCH2NL,PDE4DIP,PPIAL4A,PPIAL4B,PPIAL4C,SEC22B,SRGAP2P2 IS39243 esv2516798 1 142697781 142735690 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213959 S 1 1 0 SRGAP2P2 NA18507 nsv7936 1 142702569 142707103 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22768 S 31 0 1 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA19221 esv8055 1 142718128 142718215 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30496 S 1 1 0 SRGAP2P2 SJK nsv7947 1 142719250 142805650 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23086 S 31 0 1 Samples from several populations that are part of the HapMap project. SRGAP2P2 NA19221 esv22978 1 142857165 142935791 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11879,esv10688,esv18799 M 451 6 0 "" NA11931,NA11993,NA12414,NA18523,NA18916,NA19099 esv991538 1 142903360 142908125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582486 S 3 0 1 "" HuRef dgv102e1 1 142985839 143113101 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1528,essv18087,essv24296,essv1346,essv24420,essv20309,essv11036,essv20803,essv6891,essv24776,essv1176,essv24706,essv5333,essv560,essv25012,essv20427,essv15656,essv18410,essv11154,essv5492,essv23596,essv72,essv1110,essv2285,essv4018 M 271 0 0 LOC728855,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C NA10830,NA10839,NA10856,NA10860,NA11829,NA12006,NA12145,NA12146,NA12236,NA12249,NA12707,NA18563,NA18605,NA18632,NA18912,NA18951,NA18964,NA18966,NA18970,NA18980,NA18991,NA18998,NA19007,NA19143,NA19211 dgv103e1 1 142985839 143810075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16889,essv7772,essv5136,essv3515 M 271 0 0 C1orf152,LOC653513,LOC728855,LOC728875,NBPF9,PDE4DIP,PPIAL4A,PPIAL4B,PPIAL4C,SEC22B NA18542,NA18564,NA18965,NA19205 dgv104e1 1 142985839 144194710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4396,essv815,essv6810,essv7402,essv11228,essv1848,essv6687,essv22858,essv3461,essv19527,essv2854,essv5522,essv22092,essv6141,essv6369,essv2638,essv7317,essv17810,essv22572,essv3026,essv4237,essv23780,essv4958,essv19240,essv24890,essv11644,essv5828,essv425,essv21540,essv23934,essv6995,essv7730,essv1436,essv3379,essv2793,essv1612,essv13900,essv134,essv5131,essv370 M 271 0 0 ANKRD34A,C1orf152,HFE2,LIX1L,LOC653513,LOC728855,LOC728875,NBPF10,NBPF9,NOTCH2NL,PDE4DIP,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,SEC22B,TXNIP NA07000,NA07348,NA10831,NA10838,NA12154,NA12760,NA12763,NA12814,NA12864,NA12873,NA18529,NA18532,NA18566,NA18570,NA18573,NA18577,NA18579,NA18603,NA18608,NA18609,NA18612,NA18623,NA18633,NA18637,NA18854,NA18942,NA18944,NA18945,NA18952,NA18953,NA18967,NA18968,NA18971,NA18973,NA18976,NA18981,NA18987,NA18992,NA19154,NA19204 esv25174 1 142985885 143113064 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15191,esv16808,esv9790,esv18861,esv17211 M 451 17 0 LOC728855,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12414,NA12489,NA12749,NA12878,NA15510,NA18505,NA18511,NA18907,NA19099 nsv872204 1 142987894 143092692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593886 S 6533 0 1 LOC728855,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C IS39625 nsv7958 1 142996736 142997971 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21419 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv7969 1 143000941 143003150 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16747 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA11830 nsv7980 1 143010677 143012020 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18446,nssv19761,nssv23396 M 31 0 3 Samples from several populations that are part of the HapMap project. LOC728855,LOC728875 NA18860,NA19007,NA19221 nsv831281 1 143026080 143111804 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449584,nssv1449551,nssv1449573,nssv1449562 M 95 4 0 LOC728855,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C nsv872205 1 143031770 143231904 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590461 S 6533 1 0 LOC728855,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C IS38515 esv2512286 1 143033244 143271717 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230501 S 1 1 0 LOC728855,LOC728875,PPIAL4A,PPIAL4B,PPIAL4C NA18507 nsv7181 1 143045335 147560139 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4594,nssv5935,nssv6873,nssv3276,nssv5831,nssv10998,nssv1412,nssv9586,nssv2453,nssv9600,nssv6964,nssv10252,nssv9603,nssv11052,nssv10237,nssv4576,nssv9347,nssv9334,nssv1482,nssv2445,nssv1492,nssv6902,nssv6974,nssv3197,nssv2405,nssv3306,nssv3267 M 9 0 0 ACP6,ANKRD34A,ANKRD35,BCL9,C1orf152,CD160,CHD1L,FLJ39739,FMO5,GJA5,GJA8,GNRHR2,GPR89A,GPR89B,GPR89C,HFE2,ITGA10,LIX1L,LOC100130000,LOC100289211,LOC388692,LOC645166,LOC653513,LOC728855,LOC728875,LOC728989,NBPF10,NBPF11,NBPF14,NBPF15,NBPF16,NBPF24,NBPF9,NOTCH2NL,NUDT17,PDE4DIP,PDIA3P,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,PPIAL4A,PPIAL4B,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,PRKAB2,RBM8A,RNF115,SEC22B,TXNIP NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv26682 1 143163138 143238273 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10584,esv20623,esv10891 M 451 10 0 LOC728875 NA07037,NA11894,NA11931,NA12004,NA12006,NA12414,NA12489,NA18505,NA18909,NA19129 nsv8003 1 143172670 143176438 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19082 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 nsv8014 1 143180747 143183631 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17407 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA11830 nsv8025 1 143213388 143238397 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25963,nssv16085,nssv17737,nssv23981,nssv19106,nssv20418,nssv18063,nssv19757,nssv18439,nssv17422 M 31 10 0 Samples from several populations that are part of the HapMap project. LOC728875 NA07048,NA10839,NA10847,NA11830,NA18563,NA18564,NA18572,NA18942,NA18972,NA19007 nsv831292 1 143217450 143324868 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449595,nssv1449606 M 95 1 1 C1orf152,LOC728875 nsv831303 1 143235000 143328572 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449617,nssv1449629 M 95 0 2 C1orf152,NBPF9 dgv342n71 1 143255458 143636149 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872207,nsv872210,nsv872209,nsv872208,nsv872206 M 6533 5 0 C1orf152,LOC653513,NBPF9,PDE4DIP IS30667,IS30669,IS31169,MS13241,MS13770 nsv159823 1 143288715 143288715 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178401 M 24 "" esv24514 1 143321618 143333547 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13686,esv9932 M 451 8 0 C1orf152,NBPF9 NA06985,NA07045,NA12006,NA15510,NA18523,NA18916,NA19099,NA19114 nsv436028 1 143329500 144002758 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465609 S 2 1 0 LOC653513,NBPF9,NOTCH2NL,PDE4DIP,SEC22B NA15510 nsv436765 1 143330655 143333206 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465621 S 2 1 0 Samples from several populations that are part of the HapMap project. NBPF9 NA18505 esv23047 1 143383800 143422051 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12656 S 451 12 0 LOC653513,NBPF9 NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12749,NA12878,NA18505 esv999428 1 143383800 143422081 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586330 S 3 0 1 LOC653513,NBPF9 HuRef dgv13n16 1 143386062 143664413 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436804,nsv436025 M 2 2 0 LOC653513,NBPF9,PDE4DIP NA15510,NA18505 dgv14n16 1 143421239 143698384 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436611,nsv435736 M 2 0 2 NBPF9,PDE4DIP NA15510,NA18505 esv23161 1 143522106 143594233 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13384,esv17398,esv18675,esv12088,esv21270,esv11204 M 451 11 0 NBPF9,PDE4DIP NA06985,NA07045,NA12489,NA12776,NA15510,NA18523,NA18907,NA18909,NA18916,NA19099,NA19114 nsv831315 1 143525165 143673833 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449640 S 95 0 1 NBPF9,PDE4DIP nsv8047 1 143534197 143540659 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19748 S 31 1 0 Samples from several populations that are part of the HapMap project. NBPF9 NA12155 nsv872211 1 143539956 143606054 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519060 S 6533 1 0 NBPF9,PDE4DIP SP80936 esv2630464 1 143552436 143605023 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197025 S 1 1 0 PDE4DIP NA18507 nsv872212 1 143561808 143785107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534186 S 6533 1 0 PDE4DIP MS11468 dgv15n16 1 143563769 144980639 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435911,nsv436388 M 2 0 2 ANKRD34A,ANKRD35,CD160,GNRHR2,GPR89A,GPR89C,HFE2,ITGA10,LIX1L,LOC728989,NBPF10,NBPF11,NBPF24,NOTCH2NL,NUDT17,PDE4DIP,PDZK1,PDZK1P1,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,RNF115,SEC22B,TXNIP NA15510,NA18505 nsv510962 1 143574007 143996560 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622425,nssv624361 M 4 0 0 NOTCH2NL,PDE4DIP,SEC22B NA10860,NA18994 nsv509457 1 143574007 144198419 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621102 S 4 1 0 ANKRD34A,HFE2,LIX1L,NBPF10,NOTCH2NL,PDE4DIP,POLR3GL,SEC22B,TXNIP NA15510 dgv343n71 1 143576811 143752608 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872216,nsv872213 M 6533 2 0 PDE4DIP IS32893,MS17285 nsv469838 1 143581292 143720494 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649859 M 265 0 0 Samples from several populations that are part of the HapMap project. PDE4DIP nsv471603 1 143581293 143720494 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550825,nssv550824 M 48 0 2 PDE4DIP NA11521,NA15732 nsv2 1 143586336 143624905 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv2 S 1 0 1 PDE4DIP NA15510 nsv2633 1 143586336 143624905 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11009 S 9 0 1 PDE4DIP NA15510 nsv872214 1 143587156 143907002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565516 S 6533 1 0 PDE4DIP,SEC22B IS30435 esv1010993 1 143592748 143631036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564189 S 3 0 1 PDE4DIP HuRef nsv8058 1 143597125 143601525 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22109,nssv18760 M 31 0 2 Samples from several populations that are part of the HapMap project. PDE4DIP NA12802,NA19173 nsv821620 1 143597265 143807163 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421191 S 31 0 1 PDE4DIP dgv105e1 1 143600822 144255274 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14495,essv3195,essv17554,essv24245,essv22439,essv18393,essv8401,essv12921,essv19605,essv3292,essv22307,essv16506,essv22929,essv1504,essv4160,essv7206,essv16178,essv10898,essv20406,essv1380,essv12022,essv21027,essv8194,essv15562,essv24405,essv8953,essv4200,essv5062,essv5750,essv4657,essv6258,essv5485,essv11011,essv20061,essv17623,essv22422,essv21806,essv24804,essv19894,essv2490,essv24970,essv6869,essv6579,essv4692,essv18115,essv9719,essv12754,essv18702,essv7829,essv22843,essv22354,essv14473,essv1212,essv17274,essv21446,essv22754,essv18939,essv785,essv20570,essv23572,essv1136,essv23391,essv17429,essv15514 M 271 0 0 ANKRD34A,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,PDE4DIP,PEX11B,POLR3GL,RBM8A,SEC22B,TXNIP NA06985,NA06991,NA07019,NA07048,NA07056,NA07357,NA10830,NA10839,NA10854,NA10856,NA10860,NA10861,NA11839,NA11993,NA12004,NA12005,NA12006,NA12043,NA12155,NA12249,NA12707,NA12717,NA12753,NA12761,NA12762,NA12813,NA12874,NA12875,NA18503,NA18505,NA18506,NA18526,NA18547,NA18555,NA18558,NA18576,NA18593,NA18594,NA18605,NA18621,NA18622,NA18632,NA18636,NA18913,NA18914,NA18951,NA18956,NA18964,NA18972,NA18974,NA18980,NA19003,NA19007,NA19093,NA19094,NA19116,NA19137,NA19141,NA19143,NA19200,NA19201,NA19202,NA19209,NA19210 esv1943257 1 143605271 143606661 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759527 S 1 0 1 PDE4DIP NA18507 esv6817 1 143605476 143606634 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29258 S 1 0 1 PDE4DIP SJK nsv872215 1 143606054 143681629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503162 S 6533 0 1 PDE4DIP SP51494 dgv16n16 1 143606795 143619364 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435844,nsv436181 M 2 0 2 PDE4DIP NA15510,NA18505 esv2124797 1 143607486 143612540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913361 S 1 0 1 PDE4DIP NA18507 esv7067 1 143607564 143612412 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29508 S 1 0 1 PDE4DIP SJK nsv498686 1 143607657 143618167 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585399 S 9 0 1 PDE4DIP esv2191629 1 143612403 143618362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4824147 S 1 0 1 PDE4DIP NA18507 esv8887 1 143612527 143618164 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31328 S 1 0 1 PDE4DIP SJK dgv106e1 1 143613589 143810075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8838,essv12774,essv4872,essv18630,essv3147,essv20953,essv21139,essv18339,essv7555,essv7263,essv17719,essv17975,essv13672,essv20647,essv3735,essv23550 M 271 0 0 PDE4DIP,SEC22B NA06993,NA11994,NA12003,NA12234,NA12801,NA12815,NA12872,NA12892,NA18508,NA18545,NA18561,NA18592,NA18961,NA19012,NA19119,NA19120 dgv107e1 1 143613589 143966421 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23848,essv8048,essv23250,essv18093,essv6498,essv13124 M 271 0 0 NOTCH2NL,PDE4DIP,SEC22B NA07022,NA07029,NA12145,NA18636,NA18859,NA19103 dgv108e1 1 143613589 144089453 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3138,essv11175,essv21970,essv29,essv1232,essv6953,essv1778,essv555,essv2448,essv5296,essv1965,essv9990,essv24928,essv20342,essv11350,essv5180,essv22239,essv7879,essv24002,essv4550,essv2257,essv22640,essv5324,essv24708,essv11413,essv4826,essv2605,essv19183,essv15692,essv3810,essv21318,essv2060,essv4030,essv13384,essv20140,essv3981 M 271 0 0 NBPF10,NOTCH2NL,PDE4DIP,SEC22B NA06994,NA07345,NA11829,NA11995,NA12044,NA12236,NA12716,NA12752,NA12865,NA12878,NA18524,NA18540,NA18563,NA18582,NA18611,NA18624,NA18635,NA18857,NA18912,NA18943,NA18949,NA18959,NA18966,NA18969,NA18970,NA18990,NA18991,NA18995,NA18997,NA18998,NA18999,NA19099,NA19128,NA19140,NA19159,NA19211 esv2455158 1 143619897 143697860 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287830 S 1 1 0 PDE4DIP NA18507 nsv821349 1 143628110 143801719 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420591 S 1 1 0 PDE4DIP NA10851 nsv824365 1 143628110 143801719 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439479,nssv1424765,nssv1422389,nssv1424275,nssv1433443,nssv1432319,nssv1434194,nssv1425524,nssv1426412,nssv1437243 M 31 10 0 PDE4DIP AK2,AK4,AK6,NA18526,NA18537,NA18552,NA18570,NA18947,NA18949,NA18972 esv32934 1 143631375 143791172 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93925,essv100726 M 51 1 1 PDE4DIP 21634,21656 esv27392 1 143659640 143795351 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19656 S 451 23 0 PDE4DIP NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA19099,NA19147,NA19225 nsv8069 1 143659740 143792408 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17411,nssv26188,nssv18423,nssv16765,nssv16415,nssv18067,nssv20087,nssv20078,nssv24275,nssv20748,nssv19436,nssv17752,nssv18769,nssv19412 M 31 14 0 Samples from several populations that are part of the HapMap project. PDE4DIP NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12872,NA18563,NA18564,NA18572,NA18942,NA18972,NA18980,NA19007 dgv70n67 1 143660424 143792326 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824431,nsv824387,nsv824420,nsv824398,nsv824409,nsv824376 M 31 20 0 PDE4DIP AK10,AK12,AK14,AK16,AK18,AK20,AK8,NA18542,NA18547,NA18564,NA18566,NA18582,NA18592,NA18942,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv158975 1 143661619 143661619 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177553 M 24 PDE4DIP dgv109e1 1 143662355 143768074 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16389,essv9836,essv19053,essv24950,essv8491,essv8901,essv13965 M 271 0 0 PDE4DIP NA11830,NA12707,NA18854,NA19144,NA19160,NA19171,NA19172 dgv110e1 1 143662355 143815285 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11074,essv18894,essv19136,essv13392 M 271 0 0 PDE4DIP,SEC22B NA12717,NA12812,NA18872,NA19138 nsv819024 1 143665704 143791860 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418779 S 2 1 0 PDE4DIP AK1 esv2391656 1 143665774 143666783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840625 S 1 0 1 PDE4DIP NA18507 esv7052 1 143665922 143666723 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29493 S 1 0 1 PDE4DIP SJK essv966 1 143667730 143676923 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PDE4DIP NA18981 nsv514005 1 143670880 143792368 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627681 S 1414 1 0 PDE4DIP nsv831326 1 143673834 143791318 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449651,nssv1449684,nssv1449695,nssv1449662,nssv1449673 M 95 0 5 PDE4DIP esv2431887 1 143697860 143802318 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336045 S 1 1 0 PDE4DIP NA18507 dgv344n71 1 143702338 143907002 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872217,nsv872221,nsv872219,nsv872220 M 6533 5 0 PDE4DIP,SEC22B IS30302,IS30368,IS33162,IS40618,SP55750 esv6514 1 143717096 143717182 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28955 S 1 1 0 PDE4DIP SJK essv2737 1 143726347 143744098 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PDE4DIP NA18965 esv1942033 1 143728575 143728994 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685536 S 1 0 1 PDE4DIP NA18507 nsv872218 1 143732483 143802178 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519061,nssv1519202,nssv1506692 M 6533 3 0 PDE4DIP SP54393,SP80936,SP80982 nsv511712 1 143737301 143738734 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626353 S 1 0 1 PDE4DIP 1 esv2582001 1 143737507 143738937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327740 S 1 0 1 PDE4DIP NA18507 esv1963892 1 143737899 143738611 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835846 S 1 0 1 PDE4DIP NA18507 esv1004968 1 143738093 143738415 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572301 S 3 0 1 PDE4DIP HuRef esv2649952 1 143738101 143738423 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175451 S 1 0 1 PDE4DIP NA18507 esv6218 1 143738105 143738404 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28659 S 1 0 1 PDE4DIP SJK esv9122 1 143754704 143754769 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31563 S 1 1 0 PDE4DIP SJK esv7886 1 143773055 143773151 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30327 S 1 1 0 PDE4DIP SJK esv2522501 1 143781691 143783168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163365 S 1 0 1 PDE4DIP NA18507 nsv2644 1 143782866 143819653 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3188,nssv2350,nssv1422,nssv6920,nssv5855 M 9 0 5 PDE4DIP,SEC22B NA12156,NA12878,NA18555,NA19129,NA19240 nsv872222 1 143785107 143984844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559550 S 6533 1 0 NOTCH2NL,PDE4DIP,SEC22B MS24021 dgv17n16 1 143790285 143903675 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435903,nsv436262 M 2 0 2 SEC22B NA15510,NA18505 dgv111e1 1 143798167 144194710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17019,essv23181 M 271 0 0 ANKRD34A,HFE2,LIX1L,NBPF10,NOTCH2NL,POLR3GL,SEC22B,TXNIP NA12156,NA19144 esv2593580 1 143802318 143809622 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341607 S 1 1 0 SEC22B NA18507 dgv18n16 1 143802497 143808992 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436218,nsv435750 M 2 0 2 SEC22B NA15510,NA18505 esv2548575 1 143803776 143809166 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285972 S 1 0 1 SEC22B NA18507 esv2229660 1 143804130 143808633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895416 S 1 0 1 SEC22B NA18507 dgv7e180 1 143804138 143808481 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003476,esv995844 M 3 0 1 SEC22B HuRef nsv511713 1 143804190 143808468 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626355 S 1 0 1 SEC22B 1 esv5594 1 143804305 143808450 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28035 S 1 0 1 SEC22B SJK nsv161167 1 143804306 143808439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179745 M 24 SEC22B esv2460355 1 143806690 143831591 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374595 S 1 0 0 SEC22B NA18507 esv268838 1 143809576 143809926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510094,essv2503202,essv2495259,essv2507942,essv2513210,essv2503434,essv2508519,essv2503813,essv2504988,essv2508844,essv2502825,essv2512625,essv2504322,essv2503043,essv2496328,essv2508944,essv2497746,essv2511299,essv2494443,essv2507451,essv2505337,essv2498392,essv2507193,essv2507311,essv2495694,essv2512284,essv2505629,essv2506918,essv2498816,essv2496923,essv2493906,essv2501986,essv2498084 M 157 33 0 Samples from several populations that are part of the HapMap project. SEC22B NA11829,NA11881,NA11992,NA12003,NA12249,NA12716,NA12717,NA12761,NA12828,NA12878,NA12892,NA18489,NA18505,NA18507,NA18510,NA18522,NA18555,NA18570,NA18572,NA18638,NA18853,NA18858,NA18870,NA18912,NA18916,NA18949,NA19005,NA19102,NA19138,NA19190,NA19210,NA19239,NA19240 esv274269 1 143809581 143809927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581734,essv2582814,essv2584704,essv2583410 M 7 4 0 Samples from several populations that are part of the HapMap project. SEC22B NA12878,NA12892,NA19239,NA19240 esv2581967 1 143809622 143830894 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164878 S 1 1 0 SEC22B NA18507 essv1329 1 143815285 143916898 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SEC22B NA18973 essv18481 1 143815285 143966421 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NOTCH2NL,SEC22B NA12156 esv2509949 1 143824857 143826184 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169038 S 1 0 1 SEC22B NA18507 nsv2655 1 143828853 143929761 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2369,nssv5863,nssv6931 M 9 0 3 NOTCH2NL NA12156,NA18555,NA19129 nsv498687 1 143836169 143894728 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585400 S 9 0 1 "" nsv469755 1 143852298 143999773 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649776 M 265 0 61 Samples from several populations that are part of the HapMap project. NOTCH2NL esv24917 1 143854096 143854729 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12446 S 451 0 7 "" NA07045,NA11894,NA12004,NA12239,NA12749,NA12776,NA12878 nsv437982 1 143864903 143883975 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468075,nssv468063 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA12814 nsv2666 1 143877103 143908466 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1431 S 9 1 0 "" NA19240 nsv8080 1 143889163 143890336 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17736 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10863 esv27127 1 143900204 144094047 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14376,esv20408,esv16491,esv15723 M 451 19 0 NBPF10,NOTCH2NL NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12287,NA12414,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18907,NA18909,NA18916,NA19099,NA19257 nsv824442 1 143900204 144094047 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423719,nssv1428845,nssv1430369,nssv1437244,nssv1428048,nssv1424766,nssv1439480,nssv1431101,nssv1423145,nssv1440834,nssv1422390,nssv1431839,nssv1438605,nssv1434195,nssv1424287,nssv1421476,nssv1432330,nssv1429586,nssv1433444,nssv1437818,nssv1433629,nssv1423977,nssv1434885,nssv1436359,nssv1425525,nssv1426413,nssv1440146,nssv1437966,nssv1435678 M 31 29 0 NBPF10,NOTCH2NL AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv8091 1 143900476 144084004 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23706,nssv18765,nssv17741,nssv18082,nssv17750,nssv21078,nssv19099,nssv18766,nssv20408,nssv19753,nssv16745,nssv19742,nssv18427,nssv18753,nssv17095,nssv24565,nssv22439,nssv24007,nssv26394,nssv20738,nssv22752,nssv17754,nssv20072,nssv18091,nssv17425 M 31 21 0 Samples from several populations that are part of the HapMap project. NBPF10,NOTCH2NL NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12872,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19173,NA19221,NA19240 nsv831337 1 143900677 144104827 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449728,nssv1449706,nssv1449740,nssv1449751,nssv1449717 M 95 0 5 NBPF10,NOTCH2NL nsv820512 1 143900933 144003232 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420602 S 1 1 0 NOTCH2NL NA10851 nsv831348 1 143921702 144020182 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449762,nssv1449784,nssv1449773 M 95 0 3 NBPF10,NOTCH2NL esv269263 1 143922646 143922731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517166 S 157 1 0 Samples from several populations that are part of the HapMap project. NOTCH2NL hapmap_pooled_sample_set nsv824453 1 143923747 143963497 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427283 S 31 1 0 NOTCH2NL AK8 esv2422428 1 143971149 144320665 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161431 S 181 1 0 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NBPF10,NOTCH2NL,NUDT17,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,TXNIP ND04584 nsv2677 1 143972032 144104025 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9590,nssv11021,nssv3215,nssv3206,nssv2379,nssv2388,nssv1441,nssv9330,nssv10233,nssv5871 M 9 0 8 NBPF10,NOTCH2NL NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv508582 1 143996560 144098718 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618988 S 4 0 1 NBPF10,NOTCH2NL NA10860 nsv831359 1 144002313 144162829 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449817,nssv1449806,nssv1449795 M 95 0 3 HFE2,NBPF10,TXNIP esv2125426 1 144003050 144003462 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737332 S 1 0 1 "" NA18507 nsv160157 1 144003200 144003312 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178735 M 24 "" nsv435814 1 144005845 144011561 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465776 S 2 0 1 NBPF10 NA15510 nsv433348 1 144005888 144097032 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463229 S 9 1 0 Samples from several populations that are part of the HapMap project. NBPF10 NA12156 nsv872223 1 144005888 144106312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590462 S 6533 1 0 NBPF10 IS38515 nsv498688 1 144006217 144012543 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585401 S 9 0 1 NBPF10 nsv511125 1 144021554 144106312 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625487 S 1 0 1 NBPF10 1 nsv13 1 144036453 144068323 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv13 S 1 0 1 NBPF10 NA15510 essv16633 1 144042369 144126883 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. HFE2,NBPF10 NA19142 dgv112e1 1 144042369 144194710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12204,essv16881 M 271 0 0 ANKRD34A,HFE2,LIX1L,NBPF10,POLR3GL,TXNIP NA19101,NA19205 nsv24 1 144061077 144091155 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv24 S 1 1 0 NBPF10 NA15510 nsv2688 1 144061077 144091155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11025,nssv9591 M 9 2 0 NBPF10 NA15510,NA18507 esv2248028 1 144071380 144077886 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947681 S 1 0 1 NBPF10 NA18507 dgv3n6 1 144073244 144077969 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159326,nsv160059,nsv160266 M 24 NBPF10 nsv160210 1 144074795 144077969 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178788 M 24 NBPF10 nsv160417 1 144076115 144077671 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178995 M 24 NBPF10 nsv2699 1 144094032 144128148 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3223 S 9 1 0 HFE2 NA12878 dgv346n71 1 144097032 144220669 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872227,nsv872226 M 6533 2 0 ANKRD34A,HFE2,LIX1L,POLR3GL,RBM8A,TXNIP IS38191,MS15838 dgv347n71 1 144097032 144309816 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872228,nsv872231 M 6533 2 0 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NUDT17,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,TXNIP IS30435,MS12211 nsv831370 1 144112610 144317544 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449828 S 95 1 0 ANKRD34A,ANKRD35,GNRHR2,HFE2,ITGA10,LIX1L,NUDT17,PEX11B,PIAS3,POLR3C,POLR3GL,RBM8A,TXNIP esv5534 1 144146051 144147165 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27975 S 1 0 1 "" SJK nsv8103 1 144182877 144186392 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20742,nssv24301 M 31 2 0 Samples from several populations that are part of the HapMap project. ANKRD34A NA18502,NA19221 esv33401 1 144183079 144185322 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100051 S 51 1 0 ANKRD34A 22086 nsv831381 1 144185515 144361868 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449839 S 95 1 0 ANKRD34A,ANKRD35,GNRHR2,ITGA10,LIX1L,NUDT17,PEX11B,PIAS3,POLR3C,RBM8A,RNF115 nsv2710 1 144218975 144251802 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5872 S 9 1 0 GNRHR2,ITGA10,PEX11B,RBM8A NA19129 nsv872232 1 144228918 144309816 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535439 S 6533 1 0 ANKRD35,ITGA10,NUDT17,PEX11B,PIAS3,POLR3C MS12209 esv32826 1 144272574 144273821 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94065 S 51 1 0 ANKRD35 21802 esv529 1 144308473 145164166 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 CD160,FMO5,GPR89A,GPR89C,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1,PDZK1P1,POLR3C,PRKAB2,RNF115 dgv33n27 1 144321567 144458820 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463450,nsv463472 M 1557 0 2 CD160,PDZK1,POLR3C,RNF115 HGDP00766,NINDS_110 dgv349n71 1 144323866 144482933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872240,nsv872247,nsv872234 M 6533 0 4 CD160,GPR89A,PDZK1,RNF115 IS30118,IS41195,SP56842,SP56914 dgv350n71 1 144323866 144500467 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872242,nsv872235 M 6533 2 0 CD160,GPR89A,PDZK1,RNF115 MS18149,SP52704 nsv428224 1 144324600 145020542 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451387,nssv451376,nssv451431,nssv451365,nssv451442,nssv451453 M 62 6 0 CD160,GPR89A,GPR89C,LOC728989,NBPF11,NBPF24,PDZK1,PDZK1P1,RNF115 HGDP00449,HGDP00463,HGDP01089,HGDP01093,HGDP01094,NA18916 dgv351n71 1 144332924 144439040 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872239,nsv872245 M 6533 2 0 CD160,PDZK1,RNF115 IS33150,IS40073 nsv872241 1 144332924 144482933 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525674,nssv1530224 M 6533 1 1 CD160,GPR89A,PDZK1,RNF115 MS10278,SP56762 nsv831392 1 144333285 144514034 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449851 S 95 1 0 CD160,GPR89A,PDZK1,RNF115 nsv470735 1 144337336 144458820 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547766,nssv547765 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD160,PDZK1,RNF115 HGDP00449,HGDP01406 nsv818411 1 144337336 144458820 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417650 S 112 0 1 CD160,PDZK1,RNF115 NA18992 esv33868 1 144337623 144516065 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99048 S 51 0 1 CD160,GPR89A,PDZK1,RNF115 21938 essv3464 1 144339527 144479874 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CD160,GPR89A,PDZK1,RNF115 NA18992 nsv469752 1 144356396 144506964 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649773 M 265 0 1 Samples from several populations that are part of the HapMap project. CD160,GPR89A,PDZK1,RNF115 nsv463483 1 144369065 144392841 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539503 S 1557 0 1 RNF115 1782681247_A nsv463494 1 144369065 144458820 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539514 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD160,PDZK1,RNF115 HGDP01406 dgv352n71 1 144396615 144634976 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872249,nsv872250,nsv872248 M 6533 3 0 CD160,GPR89A,GPR89C,PDZK1,RNF115 IS31563,IS35802,SP53003 dgv71n67 1 144431583 144433803 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824464,nsv824476 M 31 0 2 "" NA18947,NA18972 dgv113e1 1 144594476 145020542 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9663,essv15401,essv2172 M 271 0 0 GPR89C,LOC728989,NBPF11,NBPF24,PDZK1P1 NA18913,NA18960,NA19203 dgv114e1 1 144594476 145164166 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16866,essv11250,essv14562 M 271 0 0 FMO5,GPR89C,LOC728989,NBPF11,NBPF24,PDIA3P,PDZK1P1,PRKAB2 NA19202,NA19204,NA19205 nsv8114 1 144653490 144655438 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22767 S 31 0 1 Samples from several populations that are part of the HapMap project. PDZK1P1 NA19173 nsv8125 1 144691312 144702533 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23085 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv831403 1 144723061 144938615 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449862 S 95 1 0 NBPF11,NBPF24 esv22721 1 144741655 144772214 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10508,esv12388 M 451 6 0 NBPF11,NBPF24 NA11993,NA15510,NA18502,NA18523,NA18916,NA19225 nsv820688 1 144744507 144772214 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420613 S 1 1 0 NBPF11,NBPF24 NA10851 nsv8136 1 144745289 144751030 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17428,nssv21068 M 31 1 1 Samples from several populations that are part of the HapMap project. NBPF11,NBPF24 NA12155,NA19144 nsv160132 1 144761130 144767356 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178710 M 24 NBPF11,NBPF24 nsv2721 1 144768599 144822890 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10241 S 9 0 1 NBPF11,NBPF24 NA18956 nsv482114 1 144786833 144791590 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558475 S 1 1 0 NBPF11 KB1 nsv8147 1 144798803 144801061 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23395 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv872251 1 144863910 145270254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583641 S 6533 1 0 CHD1L,FMO5,LOC728989,PDIA3P,PRKAB2 IS36559 esv28550 1 144875115 144875975 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9978 S 451 2 0 "" NA18511,NA18916 nsv820542 1 144926034 144932236 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420625 S 1 1 0 "" NA10851 esv24069 1 144926034 144952145 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16911,esv17130 M 451 5 0 "" NA12414,NA15510,NA18511,NA18916,NA19257 nsv2732 1 144930540 144945552 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9597,nssv6954 M 9 2 0 "" NA12156,NA18507 nsv2744 1 144957961 144960749 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5902 S 9 1 0 LOC728989 NA19129 nsv872253 1 144960870 145015173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571827 S 6533 0 1 LOC728989 IS32828 nsv872254 1 144970465 145011345 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531762 S 6533 1 0 LOC728989 MS10638 nsv872255 1 145017404 145436336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531763 S 6533 1 0 CHD1L,FMO5,LOC100289211,PDIA3P,PRKAB2 MS10638 nsv8169 1 145109955 145112619 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16749 S 31 1 0 Samples from several populations that are part of the HapMap project. PRKAB2 NA12740 nsv872257 1 145110179 145191547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585430 S 6533 1 0 CHD1L,FMO5,PDIA3P,PRKAB2 IS37452 nsv437047 1 145110179 145308226 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466928 S 60 0 1 Samples from several populations that are part of the HapMap project. CHD1L,FMO5,PDIA3P,PRKAB2 NA12752 esv270836 1 145124812 145125137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545591,essv2576751,essv2529225,essv2565512,essv2564104,essv2537333,essv2528289,essv2552554,essv2569127,essv2527940,essv2538733,essv2526437,essv2523965,essv2574542,essv2545828 M 157 15 0 Samples from several populations that are part of the HapMap project. FMO5 NA12003,NA12154,NA12749,NA12812,NA12828,NA12878,NA12891,NA18502,NA18861,NA18907,NA19108,NA19114,NA19129,NA19138,NA19239 esv273693 1 145124813 145125138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582062,essv2582489,essv2584749 M 7 3 0 Samples from several populations that are part of the HapMap project. FMO5 NA12878,NA12891,NA19239 nsv159869 1 145124844 145124844 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178447 M 24 FMO5 nsv872258 1 145128642 145176408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585157 S 6533 0 1 FMO5 IS37325 nsv872259 1 145155565 145191547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581313 S 6533 0 1 CHD1L,FMO5 IS35566 dgv354n71 1 145233977 145308966 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872261,nsv872260 M 6533 0 2 CHD1L IS33763,IS40304 dgv355n71 1 145233977 145390181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872264,nsv872262,nsv872263 M 6533 0 3 CHD1L,LOC100289211 IS37428,IS38235,IS40247 esv33421 1 145312377 145315276 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98899,essv99917 M 51 0 2 "" 21606,22086 nsv831414 1 145351618 145550490 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449884,nssv1449895,nssv1449873 M 95 3 0 BCL9,LOC100289211 nsv872265 1 145368301 145400804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499091 S 6533 0 1 LOC100289211 SP50087 esv259542 1 145426866 145427169 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394118,essv2393897,essv2393859,essv2393736,essv2394036,essv2394292 M 6 0 0 Samples from several populations that are part of the HapMap project. LOC100289211 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259688 1 145426877 145427187 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400320,essv2398461,essv2399109,essv2401147,essv2400886,essv2395783,essv2397570,essv2399377,essv2395419,essv2397336,essv2401060,essv2396918,essv2394973,essv2396486,essv2395713,essv2399468,essv2400102,essv2397919,essv2398129,essv2397759,essv2396989,essv2395162,essv2394850,essv2397250,essv2395963,essv2397054,essv2400521 M 144 0 0 Samples from several populations that are part of the HapMap project. LOC100289211 NA11881,NA11894,NA11920,NA11931,NA11993,NA12004,NA12044,NA12287,NA12749,NA12878,NA12891,NA12892,NA18511,NA18517,NA18532,NA18858,NA18861,NA18907,NA18949,NA18956,NA18973,NA19108,NA19114,NA19225,NA19238,NA19239,NA19240 nsv159275 1 145426970 145426970 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177853 M 24 LOC100289211 esv991209 1 145428078 145428149 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570948 S 3 0 1 LOC100289211 HuRef esv1706389 1 145428141 145428213 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247274 S 2 0 1 LOC100289211 HuRef nsv872266 1 145486723 145848182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531764 S 6533 1 0 ACP6,BCL9,GJA5,GJA8 MS10638 nsv831426 1 145556554 145731891 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449906 S 95 0 1 ACP6,BCL9,GJA5 esv32902 1 145573997 145574596 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100674 S 51 1 0 "" 21656 nsv872267 1 145610511 145651875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518431 S 6533 1 0 "" SP57553 esv271108 1 145618379 145618464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516571 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv463506 1 145658465 145776067 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539525 S 1557 1 0 GJA5 1780854090_A nsv463517 1 145658465 145842605 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539536 S 1557 1 0 GJA5,GJA8 1780862040_A nsv831437 1 145701231 145859616 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449917 S 95 0 1 GJA5,GJA8 esv1965331 1 145856652 145857263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748489 S 1 0 1 "" NA18507 esv9211 1 145856779 145857107 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31652 S 1 0 1 "" SJK nsv160897 1 145859232 145859232 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179475 M 24 "" esv1133506 1 145859255 145859317 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741765 S 2 0 1 "" HuRef nsv511130 1 145908598 146050577 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626476 S 1 0 1 GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 1 nsv872268 1 145909481 146160867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592581 S 6533 1 0 GPR89B,GPR89C,NBPF11,NBPF24,PDZK1P1 IS39243 nsv8180 1 145950469 145952416 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23705 S 31 0 1 Samples from several populations that are part of the HapMap project. PDZK1P1 NA19173 nsv511157 1 146021951 146050577 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626077 S 1 0 1 NBPF11,NBPF24 1 esv24256 1 146041182 146069318 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17865,esv15697 M 451 6 0 NBPF11,NBPF24 NA11993,NA15510,NA18502,NA18916,NA19099,NA19225 dgv115e1 1 146151735 146375612 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15149,essv16212 M 271 0 0 FLJ39739,LOC100130000 NA19129,NA19161 dgv116e1 1 146151735 146492662 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv591,essv18923 M 271 0 0 FLJ39739,LOC100130000,NBPF14,PPIAL4A NA12005,NA18998 dgv117e1 1 146151735 148262603 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10704,essv21927,essv8055,essv1850,essv2387,essv2131,essv2977,essv4790,essv1225,essv19728,essv2254,essv21103,essv16863,essv14134,essv18067,essv23239,essv24666,essv2779,essv23516,essv91,essv17613,essv19982,essv6845,essv5604,essv19350,essv3958,essv18380,essv11239,essv8654,essv6416,essv2163,essv6906,essv6084,essv14506,essv2771,essv5819,essv8706,essv17815,essv6936,essv22662,essv6397,essv16504,essv6270,essv25169,essv15619,essv5499,essv15398,essv24338,esv834,essv19241,essv4228,essv23894,essv7231,essv12812,essv23641,essv19528,essv11729,essv10988,essv18756,essv1601,essv1416,essv3354,essv1190,essv480,essv6809,essv2890,essv22893,essv1936,essv14225,essv5139,essv1126,essv2666,essv4704,essv19130,essv8206,essv7353,essv16169,essv7005,essv365 M 271 0 0 BOLA1,FCGR1A,FCGR1C,FLJ39739,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC100130000,LOC388692,LOC645166,LOC728855,MTMR11,NBPF14,NBPF15,NBPF16,OTUD7B,PPIAL4A,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,SF3B4,SV2A NA06985,NA07029,NA07034,NA07048,NA07055,NA10831,NA10838,NA10854,NA10859,NA11829,NA11840,NA11882,NA12044,NA12057,NA12145,NA12249,NA12752,NA12753,NA12760,NA12814,NA12864,NA12874,NA18506,NA18508,NA18529,NA18545,NA18547,NA18558,NA18564,NA18566,NA18570,NA18572,NA18579,NA18603,NA18605,NA18608,NA18612,NA18620,NA18621,NA18622,NA18632,NA18636,NA18861,NA18912,NA18913,NA18942,NA18944,NA18945,NA18951,NA18952,NA18953,NA18959,NA18960,NA18964,NA18966,NA18967,NA18970,NA18971,NA18976,NA18978,NA18981,NA18987,NA18995,NA19000,NA19005,NA19101,NA19103,NA19116,NA19120,NA19143,NA19154,NA19200,NA19202,NA19203,NA19204,NA19205,NA19210 nsv510984 1 146159250 146456367 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624363 S 4 0 0 FLJ39739,LOC100130000,PPIAL4A NA18994 nsv831448 1 146164977 146329018 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449928 S 95 0 1 "" dgv356n71 1 146174007 146325557 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872270,nsv872269,nsv872275,nsv872273,nsv872272 M 6533 7 0 "" IS34111,MS10638,MS11468,MS12439,MS17285,MS23628,SP56086 esv2569215 1 146174107 146196263 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212793 S 1 1 0 "" NA18507 nsv872271 1 146194010 146397003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501575 S 6533 0 1 FLJ39739,LOC100130000 SP50725 nsv872274 1 146202411 146325557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591166,nssv1571829 M 6533 0 2 "" IS32828,IS38648 esv2750803 1 146202411 147495710 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986065,essv6982027 M 771 1 0 FLJ39739,LOC100130000,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F BEC_514 nsv428235 1 146202523 148257137 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451509,nssv451786,nssv451465,nssv451753,nssv451698,nssv451864,nssv451520,nssv451576,nssv451564,nssv451498,nssv451764,nssv451731,nssv451831,nssv451886,nssv451553,nssv451809,nssv451775,nssv451720,nssv451487,nssv451542,nssv451853,nssv451842,nssv451875,nssv451709,nssv451742,nssv451531,nssv451476,nssv451820,nssv451798 M 62 25 0 BOLA1,FCGR1A,FCGR1C,FLJ39739,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC100130000,LOC388692,LOC645166,LOC728855,MTMR11,NBPF14,NBPF15,NBPF16,OTUD7B,PPIAL4A,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,SF3B4,SV2A HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00473,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19181,NA19257 esv8312 1 146216895 146259138 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30753 S 1 0 0 "" SJK dgv72n67 1 146218376 146226566 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824487,nsv824498 M 31 0 2 "" NA18592,NA18942 nsv8191 1 146219241 146221816 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24906 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv6374 1 146219575 146242170 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28815 S 1 0 0 "" SJK nsv8202 1 146239815 146257038 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25186,nssv18066,nssv21072 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10863,NA18502,NA19221 esv2796 1 146242204 146242269 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25237 S 1 0 0 Single Asian sample YH "" YH nsv872276 1 146253348 146325557 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551120 S 6533 1 0 "" MS18787 esv2020060 1 146263155 146263601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702156 S 1 0 1 "" NA18507 dgv118e1 1 146268901 147521567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19038,essv12952,essv23307,essv22691 M 271 0 0 FLJ39739,LOC100130000,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F NA07034,NA12004,NA12264,NA19102 dgv119e1 1 146272344 146492662 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24297,essv24872,essv20318,essv22984,essv11091,essv24394,essv19640,essv5407,essv3785,essv20126,essv4995,essv21214,essv24979,essv10829,essv21512,essv22397,essv10940,essv7793,essv3142,essv18156 M 271 0 0 FLJ39739,LOC100130000,NBPF14,PPIAL4A NA07000,NA07345,NA07357,NA10839,NA10856,NA11830,NA11993,NA12155,NA12236,NA12707,NA12873,NA12875,NA18558,NA18563,NA18637,NA18871,NA18943,NA18969,NA19209,NA19211 dgv120e1 1 146272344 147221084 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9741,essv1410,essv6192,essv3856,essv15554,essv21457,essv20397,essv16702,essv22588,essv157,essv12744,essv22828,essv20600,essv24766 M 271 0 0 FLJ39739,LOC100130000,LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F NA07056,NA07348,NA10830,NA10860,NA12004,NA12717,NA18532,NA18913,NA18914,NA18968,NA18994,NA19007,NA19137,NA19142 nsv441712 1 146273899 146275557 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv7e55 1 146276990 147980523 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2750804,esv2750805,esv2750806 M 771 0 3 FCGR1C,FLJ39739,LOC100130000,LOC388692,LOC645166,LOC728855,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F BEC_53,BEC_607,BEC_74 esv2750807 1 146288629 148142748 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988890,essv6987154,essv6985102,essv6985103,essv6985104 M 771 1 0 BOLA1,FCGR1A,FCGR1C,FLJ39739,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC100130000,LOC388692,LOC645166,LOC728855,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F,SV2A SPC_1 dgv357n71 1 146294453 146788907 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872277,nsv872280,nsv872282 M 6533 4 0 FLJ39739,LOC100130000,NBPF14,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F IS31679,IS35717,IS38515,MS11694 nsv8214 1 146323154 146327168 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21408 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 dgv358n71 1 146336720 146478962 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872278,nsv872279 M 6533 3 0 FLJ39739,LOC100130000,NBPF14,PPIAL4A IS31703,IS37226,IS38575 esv23584 1 146349000 146492617 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11963,esv18233,esv10217,esv19962 M 451 16 0 FLJ39739,LOC100130000,NBPF14,PPIAL4A NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12414,NA12749,NA12878,NA15510,NA18505,NA19099,NA19114,NA19225,NA19240 nsv8225 1 146379568 146483371 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19083,nssv17755,nssv18442,nssv19095,nssv20747,nssv22088,nssv19766,nssv26567,nssv17079,nssv22098,nssv18426,nssv20417,nssv19429,nssv21758,nssv19759,nssv18757,nssv23070,nssv21768,nssv17075,nssv20083,nssv18071,nssv17405,nssv21077,nssv19090,nssv22428,nssv24880,nssv20402,nssv20089 M 31 20 0 Samples from several populations that are part of the HapMap project. FLJ39739,NBPF14,PPIAL4A NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18942,NA18972,NA18980,NA19007 nsv872281 1 146386595 146478962 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599068,nssv1560785,nssv1539882,nssv1565724,nssv1554839 M 6533 1 4 FLJ39739,NBPF14,PPIAL4A IS30515,IS41034,MS14549,MS21022,MS24705 dgv121e1 1 146395044 146492662 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4359,essv15453 M 271 0 0 FLJ39739,NBPF14,PPIAL4A NA18505,NA18573 dgv359n71 1 146397003 146478962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872290,nsv872285,nsv872283,nsv872289 M 6533 0 16 FLJ39739,NBPF14,PPIAL4A IS30409,IS36011,IS38410,IS38602,IS39714,IS40420,MS12734,MS13712,MS15765,MS18132,MS24360,SP50107,SP50700,SP53687,SP58007,SP58408 nsv872284 1 146398188 146438291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539193,nssv1551500 M 6533 2 0 FLJ39739,PPIAL4A MS14256,MS18911 nsv872286 1 146398188 146788907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590063,nssv1599844,nssv1554277 M 6533 0 3 FLJ39739,NBPF14,PPIAL4A,PPIAL4D,PPIAL4E,PPIAL4F IS38455,IS41802,MS20708 dgv360n71 1 146399753 146460288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872287,nsv872288 M 6533 0 2 PPIAL4A SP53041,SP54561 nsv2755 1 146443453 146478956 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3286,nssv11043,nssv7576,nssv2461 M 9 4 0 NBPF14 NA12156,NA12878,NA15510,NA18555 dgv122e1 1 146467474 147978183 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22727,essv1563,essv15960,essv14239,essv25167,essv5618,essv5887,essv11482,essv7932,essv20532,essv18578,essv21892,essv12093 M 271 0 0 FCGR1C,LOC388692,LOC645166,LOC728855,NBPF14,NBPF15,NBPF16,PPIAL4A,PPIAL4C,PPIAL4D,PPIAL4E,PPIAL4F NA06991,NA10851,NA11839,NA11995,NA12239,NA18576,NA18593,NA18856,NA18997,NA19099,NA19100,NA19142,NA19209 nsv35 1 146476038 146477425 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv35 S 1 1 0 NBPF14 NA15510 nsv872291 1 146478962 147214651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592582 S 6533 1 0 LOC645166,NBPF14,NBPF15,NBPF16,PPIAL4D,PPIAL4E,PPIAL4F IS39243 esv29002 1 146542717 146716792 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19440,esv20292,esv9895,esv13562,esv10895 M 451 12 0 PPIAL4D,PPIAL4E,PPIAL4F NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12414,NA12749,NA15510,NA18523,NA18916,NA19099 nsv824509 1 146559993 146603274 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428049 S 31 1 0 PPIAL4D,PPIAL4E,PPIAL4F AK10 esv989001 1 146589696 146609796 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586700 S 3 0 1 "" HuRef nsv441713 1 146780429 147056085 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NBPF15,NBPF16,PPIAL4E nsv508604 1 146789479 147719342 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622776 S 4 0 1 FCGR1C,LOC388692,LOC645166,NBPF15,NBPF16,PPIAL4E NA18994 nsv436735 1 146808685 146810525 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465809 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv33539 1 146825987 147982309 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101256,essv96764,essv100936,essv98280,essv94654,essv95366,essv92827,essv96191,essv97263,essv98568,essv99660,essv99370 M 51 4 8 FCGR1C,LOC388692,LOC645166,LOC728855,NBPF15,NBPF16,PPIAL4A,PPIAL4C,PPIAL4E 21618,21659,21693,21772,21791,21872,21944,22007,22075,22085,22217,22335 nsv469683 1 146838731 147063499 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649614 M 265 0 2 Samples from several populations that are part of the HapMap project. NBPF15,NBPF16,PPIAL4E esv27789 1 146840958 146927363 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13862,esv20433,esv17232,esv15839,esv19717 M 451 10 0 NBPF15,NBPF16,PPIAL4E NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12414,NA12878,NA15510,NA18502 nsv872292 1 146845954 147017157 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559513 S 6533 1 0 NBPF15,NBPF16,PPIAL4E MS24010 nsv8236 1 146855328 146861015 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18084,nssv22418 M 31 1 1 Samples from several populations that are part of the HapMap project. NBPF15,NBPF16 NA12155,NA18975 nsv8247 1 146862713 146905456 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22746,nssv26726,nssv19413,nssv25160,nssv20732,nssv20096,nssv19437,nssv19087,nssv17735,nssv18431,nssv21407,nssv18085,nssv18772,nssv22756 M 31 14 0 Samples from several populations that are part of the HapMap project. NBPF15,NBPF16 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12872,NA18563,NA18564,NA18942,NA18972,NA18980,NA19007,NA19132 nsv872293 1 146877397 147118356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533065 S 6533 0 1 NBPF16,PPIAL4E MS11002 nsv872294 1 146883208 147135015 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590464 S 6533 1 0 NBPF16,PPIAL4E IS38515 essv6701 1 147000772 147158860 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. NBPF16 NA18608 dgv123e1 1 147000772 148165420 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14396,essv11872,essv8454,essv15275,essv3738,essv9907,essv9258,essv10122,essv7090,essv6764,essv3695,essv5263,essv13787,essv24045,essv15814,essv5215,essv11998,essv13426,essv13052,essv18591,essv22508,essv646,essv5931,essv15372,essv17061,essv20194,essv19678,essv18254,essv12374,essv21541,essv17529,essv16309,essv23127,essv14776,essv19953,essv10403 M 271 0 0 BOLA1,FCGR1A,FCGR1C,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC388692,LOC645166,LOC728855,NBPF16,PPIAL4A,PPIAL4C,SF3B4,SV2A NA10846,NA10859,NA11832,NA11882,NA12234,NA12264,NA12762,NA12813,NA12873,NA12891,NA18507,NA18516,NA18517,NA18537,NA18550,NA18562,NA18611,NA18624,NA18852,NA18862,NA18947,NA18961,NA18975,NA19094,NA19128,NA19130,NA19145,NA19153,NA19159,NA19161,NA19172,NA19192,NA19221,NA19222,NA19223,NA19238 esv22150 1 147004580 147090322 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15570,esv19062,esv10593,esv12320 M 451 9 0 NBPF16 NA11894,NA11931,NA11995,NA12004,NA12006,NA12414,NA12878,NA18502,NA18907 nsv433349 1 147017157 147217833 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463230 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC645166,NBPF16 NA19240 nsv8258 1 147017372 147023497 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18444,nssv23064 M 31 1 1 Samples from several populations that are part of the HapMap project. NBPF16 NA12155,NA18975 nsv8269 1 147024757 147067849 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18065,nssv19767,nssv19743,nssv19417,nssv26866,nssv21767,nssv20426,nssv19102,nssv25440,nssv18761,nssv18445,nssv23074,nssv23374,nssv21062 M 31 14 0 Samples from several populations that are part of the HapMap project. NBPF16 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12872,NA18563,NA18564,NA18942,NA18972,NA18980,NA19007,NA19132 nsv872295 1 147056493 147195407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532776 S 6533 0 1 LOC645166 MS10843 nsv831459 1 147066269 147215140 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449939 S 95 1 0 LOC645166 esv9583 1 147115776 147116326 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32024 S 1 0 1 "" SJK dgv124e1 1 147156861 147580318 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21629,essv23013,essv14154,essv16323,essv9320,essv6431,essv21335 M 271 0 0 LOC388692,LOC645166 NA07348,NA12812,NA12878,NA18592,NA18853,NA19140,NA19193 dgv125e1 1 147156861 148257137 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24466,essv21252,essv3239,essv15523,essv10447,essv21826,essv20243,essv55,essv17231,essv16404,essv3899,essv10782,essv12312,essv543,essv2459,essv4592,essv10579,essv6129,essv19622,essv17872,essv11184,essv12576,essv8734,essv13582,essv24888,essv5355,essv20464,essv4903,essv24384,essv6040,essv21203,essv19415,essv7409,essv13676,essv15001,essv16059,essv20345,essv16973,essv14353,essv22445,essv21474,essv9110,essv5085,essv14637,essv18447,essv10259,essv2580,essv18851,essv23385,essv6359,essv8140,essv13915,essv24310,essv10665,essv7782,essv11489,essv2522,essv12976,essv25006,essv15578,essv21119,essv9759,essv4476,essv828,essv9045,essv15075,essv17186,essv16750,essv19175,essv17722,essv23811,essv15771,essv9644,essv21397,essv703,essv23533,essv3814,essv22394,essv17982,essv22325,essv13564,essv19022,essv784,essv11910,essv21717,essv3553,essv23449,essv20120,essv11735,essv23193,essv9975,essv3134,essv4381 M 271 0 0 BOLA1,FCGR1A,FCGR1C,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC388692,LOC645166,LOC728855,MTMR11,OTUD7B,PPIAL4A,PPIAL4C,SF3B4,SV2A NA06985,NA06993,NA06994,NA07000,NA07345,NA10830,NA10839,NA10854,NA10855,NA10856,NA10857,NA11830,NA11831,NA11839,NA11840,NA12003,NA12005,NA12056,NA12144,NA12155,NA12156,NA12236,NA12248,NA12707,NA12740,NA12750,NA12751,NA12761,NA12763,NA12815,NA12865,NA12872,NA12875,NA18501,NA18502,NA18503,NA18504,NA18505,NA18515,NA18523,NA18524,NA18532,NA18542,NA18552,NA18561,NA18563,NA18571,NA18573,NA18577,NA18609,NA18623,NA18854,NA18855,NA18859,NA18860,NA18863,NA18870,NA18872,NA18940,NA18943,NA18956,NA18965,NA18969,NA18973,NA18974,NA18990,NA18991,NA18994,NA18998,NA18999,NA19003,NA19092,NA19093,NA19098,NA19099,NA19119,NA19127,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19141,NA19144,NA19152,NA19160,NA19171,NA19173,NA19194,NA19206,NA19211,NA19240 nsv872296 1 147161570 147414362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558856 S 6533 1 0 LOC645166 MS23582 dgv361n71 1 147161570 147655013 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872300,nsv872297,nsv872304 M 6533 3 0 FCGR1C,LOC388692,LOC645166 MS10867,MS15813,MS18077 dgv362n71 1 147161570 147802532 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872341,nsv872337,nsv872338,nsv872298,nsv872301,nsv872323,nsv872305,nsv872324,nsv872299 M 6533 38 0 FCGR1C,LOC388692,LOC645166 IS30826,IS31169,IS31251,IS31706,IS33867,IS35568,IS36689,IS37891,IS37987,IS38341,IS40482,IS41824,MS10499,MS11135,MS11467,MS12860,MS12991,MS13330,MS13727,MS14805,MS15389,MS15749,MS15805,MS19008,MS21249,MS21442,MS21717,MS22166,MS23973,MS24010,MS24202,MS24330,SP54299,SP54936,SP55621,SP80932,SP81326,SP81534 nsv8280 1 147162107 147170569 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25466 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv126e1 1 147188028 148054010 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1300,essv20523,essv20734,essv3453,essv14886,essv5662,essv22616,essv10845,essv5854,essv21364,essv2935,essv1715,essv24181,essv7239,essv6462,essv6790,essv19885,essv8356,essv18551,essv19363,essv12661,essv3305,essv8647,essv13497,essv19302,essv14456 M 271 0 0 FCGR1A,FCGR1C,HIST2H2BF,HIST2H3D,LOC388692,LOC645166,LOC728855,PPIAL4A,PPIAL4C NA07019,NA07022,NA07056,NA07357,NA10860,NA11881,NA11993,NA12154,NA12716,NA18500,NA18522,NA18526,NA18555,NA18594,NA18635,NA18637,NA18858,NA18871,NA18914,NA18968,NA18972,NA18980,NA18992,NA19007,NA19201,NA19239 nsv8291 1 147189000 147200711 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25725 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC645166 NA19221 nsv872302 1 147214651 147414362 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587291,nssv1547720,nssv1559169 M 6533 1 2 LOC645166 IS38006,MS17527,MS23768 dgv363n71 1 147214651 147600855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872307,nsv872303 M 6533 0 2 LOC388692,LOC645166 IS41831,SP51145 nsv872306 1 147214651 148018990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535768 S 6533 1 0 FCGR1C,LOC388692,LOC645166,LOC728855,PPIAL4A,PPIAL4C MS12466 dgv364n71 1 147282617 147478120 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872344,nsv872331,nsv872330,nsv872329,nsv872308,nsv872345 M 6533 0 17 "" IS41806,SP50916,SP52439,SP54532,SP54622,SP54652,SP55131,SP55310,SP55655,SP55829,SP56289,SP56457,SP56849,SP57020,SP57324,SP57408,SP57754 nsv872309 1 147282617 147496429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499131 S 6533 1 0 "" SP50066 dgv365n71 1 147282617 147512738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872339,nsv872355,nsv872314,nsv872346,nsv872353,nsv872360,nsv872310,nsv872349,nsv872352,nsv872362,nsv872347,nsv872313 M 6533 0 38 "" SP50098,SP50148,SP50159,SP50532,SP50936,SP51115,SP51158,SP51440,SP52255,SP53572,SP54083,SP54429,SP54490,SP54575,SP54663,SP54672,SP54681,SP54935,SP54956,SP55100,SP55624,SP55690,SP55787,SP55886,SP55911,SP55937,SP56094,SP56128,SP56307,SP56380,SP56734,SP56959,SP57199,SP57243,SP57445,SP57481,SP57669,SP57921 dgv366n71 1 147282617 147548553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872315,nsv872311,nsv872364,nsv872350,nsv872361,nsv872348,nsv872340,nsv872363 M 6533 0 48 LOC388692 SP50796,SP51016,SP51427,SP51485,SP51499,SP52020,SP52039,SP52052,SP52081,SP52122,SP52688,SP52717,SP52782,SP53287,SP53425,SP54367,SP54383,SP54430,SP54468,SP54776,SP54789,SP54822,SP55077,SP55542,SP55611,SP55649,SP55717,SP55800,SP55856,SP55883,SP55986,SP56023,SP56089,SP56108,SP56143,SP56207,SP56215,SP56385,SP56887,SP57010,SP57173,SP57190,SP57254,SP57443,SP57472,SP57489,SP57779,SP57873 nsv872312 1 147292384 147600855 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563701,nssv1580720,nssv1533902,nssv1581923,nssv1585652,nssv1545340,nssv1593524,nssv1527050,nssv1594550,nssv1541331,nssv1539380,nssv1550585,nssv1596474,nssv1591533,nssv1561531,nssv1588322,nssv1563768 M 6533 13 4 LOC388692 IS30041,IS30067,IS35440,IS35765,IS37605,IS38180,IS38972,IS39428,IS39929,IS40524,MS11331,MS14316,MS15243,MS16724,MS18479,MS25058,SP58097 dgv367n71 1 147292384 147657999 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872336,nsv872316 M 6533 0 2 FCGR1C,LOC388692 SP51477,SP55671 dgv368n71 1 147292384 147710728 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872317,nsv872319,nsv872322,nsv872351,nsv872335,nsv872320,nsv872318,nsv872321 M 6533 16 0 FCGR1C,LOC388692 IS33087,IS37149,IS38411,IS40520,IS40625,MS10593,MS17949,MS19466,MS20196,MS21776,MS22279,MS24381,MS25801,SP54197,SP55279,SP80948 esv2609067 1 147293668 147302162 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272086 S 1 1 0 "" NA18507 dgv127e1 1 147294669 147526657 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6535,essv942,essv18916 M 271 0 0 "" NA12717,NA18611,NA18949 dgv369n71 1 147296071 147396684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872327,nsv872326,nsv872328,nsv872343,nsv872342,nsv872325 M 6533 0 9 "" SP50562,SP50753,SP52175,SP52231,SP54680,SP55834,SP56041,SP56816,SP57163 dgv370n71 1 147296071 147548553 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872334,nsv872333,nsv872354,nsv872332 M 6533 19 82 LOC388692 SP50038,SP50081,SP50087,SP50137,SP50520,SP50521,SP50523,SP50528,SP50530,SP50593,SP50615,SP50631,SP50649,SP50652,SP50665,SP50695,SP50761,SP50776,SP50872,SP50940,SP50963,SP50973,SP50977,SP50985,SP50997,SP51049,SP51109,SP51161,SP51206,SP51281,SP51483,SP51493,SP52008,SP52019,SP52082,SP52117,SP52124,SP52455,SP52529,SP52559,SP52716,SP52858,SP52868,SP53242,SP53330,SP53734,SP53821,SP53863,SP53894,SP54095,SP54225,SP54434,SP54471,SP54517,SP54526,SP54665,SP54726,SP54750,SP54760,SP54782,SP54979,SP55056,SP55125,SP55381,SP55469,SP55553,SP55571,SP55596,SP55637,SP55652,SP55684,SP55715,SP55750,SP55791,SP55803,SP55835,SP55926,SP55952,SP56002,SP56004,SP56022,SP56029,SP56085,SP56096,SP56144,SP56173,SP56224,SP56549,SP56832,SP56926,SP57067,SP57238,SP57268,SP57368,SP57507,SP57672,SP80913,SP80924,SP81005,SP81009,SP81074 nsv8302 1 147299779 147859063 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20094,nssv20752,nssv19747,nssv22427,nssv19111,nssv20085,nssv25164,nssv19096,nssv18088,nssv19762,nssv20415,nssv20751,nssv24300,nssv17758,nssv24590,nssv21086,nssv20419,nssv20743,nssv20427,nssv24285,nssv25699,nssv20073,nssv18759,nssv23384,nssv23995,nssv20733,nssv20403,nssv18755,nssv20756,nssv21409,nssv20092,nssv19746,nssv23073,nssv17739,nssv22755,nssv23991,nssv19085,nssv21073,nssv19750,nssv24569,nssv23985,nssv20407,nssv21063,nssv19421,nssv19415,nssv19426,nssv22412,nssv18080,nssv24884,nssv22740,nssv19755,nssv20091,nssv18451,nssv20421,nssv23684,nssv19420,nssv24279,nssv19432,nssv24006,nssv22097,nssv18069,nssv21079,nssv19764,nssv19100,nssv20422,nssv20097,nssv19434,nssv18756,nssv18429,nssv21763,nssv18775,nssv19425,nssv21403,nssv23694,nssv22082,nssv20077,nssv18770,nssv25970,nssv18425,nssv21081,nssv22093,nssv18440,nssv20749,nssv19091,nssv23690,nssv21392,nssv19089,nssv18774,nssv18781,nssv21402,nssv20413,nssv24575,nssv21752,nssv27030,nssv23380,nssv19416,nssv19104,nssv20080,nssv19086,nssv17409,nssv24890 M 31 30 0 Samples from several populations that are part of the HapMap project. FCGR1C,LOC388692,LOC728855,PPIAL4A,PPIAL4C NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv513730 1 147299978 147302394 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626982 S 1 1 0 "" 1 esv21838 1 147300034 147726239 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19910,esv11794,esv16745,esv19434,esv16514 M 451 29 5 FCGR1C,LOC388692 NA06985,NA07037,NA07045,NA11931,NA12006,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514006 1 147303136 147511088 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627692 S 1414 0 0 "" esv2422083 1 147303148 147523315 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5073213,essv5077604,essv5100778,essv5057822,essv5105106,essv5072951,essv5110178,essv5129748,essv5076450,essv5071310,essv5062777,essv5089238,essv5106130,essv5070713,essv5047971,essv5053384,essv5080815,essv5090861,essv5008575,essv5159265,essv5029474,essv5003976,essv5103497,essv5029549,essv5064286,essv5029043,essv5063283,essv5010498,essv5090982,essv5157686,essv5156532,essv5154124,essv5038149,essv5112173,essv5149639,essv5061510,essv5009384,essv5076786,essv5031368,essv5034315,essv5059764,essv5068584,essv5023171,essv5025940,essv5061222,essv5152796,essv5157603,essv5150888,essv5128084,essv5096661,essv5003691,essv5123772,essv5025613,essv5120417,essv5088781,essv5155104,essv5073634,essv5015860,essv5029066,essv5016518,essv5086646,essv5072152,essv5087266,essv5039205,essv5082232,essv5006455,essv5054999,essv5127389,essv5093110,essv5032079,essv5112117,essv5030801,essv5039986,essv5095926,essv5055465,essv5097130,essv5039981,essv5133548,essv5036295,essv5159653,essv5102758,essv5045722,essv5063992,essv5078001,essv5130747,essv5030381,essv5116065,essv5013750,essv5126657,essv5049156,essv5060076,essv5073364,essv5063216,essv5040113,essv5126519,essv5080492,essv5082303,essv5150410,essv5014506,essv5025110,essv5062265,essv5137033,essv5145338,essv5018956,essv5152513,essv5071274,essv5115615,essv5112717,essv5109816,essv5053713,essv5020259,essv5068119,essv5087889,essv5151684,essv5154947,essv5093873,essv5140882,essv5078605,essv5112071,essv5070645,essv5043715,essv5061591,essv5018657,essv5094402,essv5140644,essv5105593,essv5090829,essv5105815,essv5066115,essv5124471,essv5088297,essv5098032,essv5054822,essv5110090,essv5155753,essv5064597,essv5138744,essv5140190,essv5050711,essv5041415,essv5089163,essv5140030,essv5007098,essv5002539,essv5110726,essv5109769,essv5096333,essv5105372,essv5028658,essv5101471,essv5056149,essv5131254,essv5081322,essv5032841,essv5082395,essv5065443,essv5113519,essv5024845,essv5015843,essv5059300,essv5073656,essv5091676,essv5134330,essv5142646,essv5104142,essv5086809,essv5049007,essv5103725,essv5086434,essv5156651,essv5028895,essv5020631,essv5120001,essv5095491,essv5133939,essv5069149,essv5075990,essv5051012,essv5023156,essv5050382,essv5151812,essv5065213,essv5011585,essv5134892,essv5010659,essv5053239,essv5112553,essv5048420,essv5035623,essv5047714,essv5031892,essv5159475,essv5063440,essv5120049,essv5029940,essv5087323,essv5093532,essv5024303,essv5002173,essv5070529,essv5063413,essv5152942,essv5157463,essv5146252,essv5001910,essv5013900,essv5058345,essv5034837,essv5028643,essv5030072,essv5043216,essv5110478,essv5028421,essv5111462,essv5006298,essv5030136,essv5099696,essv5116069,essv5024236,essv5128695,essv5108306,essv5160355,essv5072302,essv5076408,essv5151881,essv5045579,essv5029680,essv5024660,essv5024101,essv5087864,essv5008054,essv5032814,essv5034092,essv5026661,essv5048150,essv5090977,essv5046207,essv5041284,essv5152850,essv5010517,essv5115817,essv5105505,essv5079398,essv5137160,essv5037417 M 1184 20 225 "" NA06985,NA06991,NA06994,NA07014,NA07022,NA07051,NA07055,NA07056,NA07348,NA07357,NA10830,NA10843,NA10854,NA10859,NA10864,NA10865,NA11839,NA11840,NA11881,NA11882,NA11891,NA11893,NA11894,NA11920,NA11993,NA11995,NA12044,NA12057,NA12154,NA12239,NA12264,NA12344,NA12347,NA12708,NA12716,NA12749,NA12766,NA12775,NA12817,NA12818,NA12828,NA12829,NA12890,NA17965,NA17970,NA17981,NA17990,NA18112,NA18117,NA18129,NA18143,NA18146,NA18152,NA18155,NA18161,NA18166,NA18484,NA18488,NA18506,NA18508,NA18526,NA18545,NA18548,NA18555,NA18558,NA18576,NA18592,NA18593,NA18594,NA18597,NA18608,NA18610,NA18611,NA18614,NA18616,NA18617,NA18621,NA18626,NA18631,NA18635,NA18637,NA18641,NA18645,NA18647,NA18670,NA18685,NA18696,NA18740,NA18747,NA18857,NA18913,NA18914,NA18917,NA18940,NA18946,NA18949,NA18968,NA18976,NA18977,NA18978,NA18980,NA18997,NA19000,NA19001,NA19005,NA19007,NA19009,NA19056,NA19060,NA19068,NA19072,NA19076,NA19080,NA19081,NA19099,NA19101,NA19102,NA19103,NA19118,NA19142,NA19150,NA19174,NA19179,NA19200,NA19209,NA19327,NA19373,NA19379,NA19382,NA19390,NA19394,NA19434,NA19444,NA19658,NA19661,NA19662,NA19664,NA19665,NA19682,NA19685,NA19686,NA19708,NA19722,NA19723,NA19749,NA19750,NA19751,NA19762,NA19909,NA19921,NA20279,NA20282,NA20284,NA20295,NA20301,NA20302,NA20345,NA20506,NA20508,NA20509,NA20510,NA20521,NA20522,NA20528,NA20531,NA20538,NA20542,NA20543,NA20759,NA20761,NA20765,NA20770,NA20775,NA20778,NA20797,NA20802,NA20805,NA20811,NA20826,NA20846,NA20849,NA20852,NA20859,NA20862,NA20871,NA20875,NA20882,NA20891,NA20892,NA20895,NA20899,NA20900,NA20904,NA20906,NA20909,NA20911,NA21097,NA21098,NA21109,NA21113,NA21115,NA21123,NA21125,NA21142,NA21143,NA21144,NA21297,NA21300,NA21303,NA21308,NA21309,NA21356,NA21357,NA21365,NA21378,NA21385,NA21403,NA21404,NA21418,NA21441,NA21442,NA21453,NA21486,NA21487,NA21491,NA21493,NA21494,NA21509,NA21517,NA21520,NA21523,NA21526,NA21527,NA21528,NA21599,NA21601,NA21613,NA21617,NA21631,NA21632,NA21650,NA21685,NA21689,NA21733,NA21768 nsv441790 1 147303148 147526040 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv10n17 1 147303994 147313602 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437240,nsv437241 M 60 0 2 "" NA18506,NA19103 nsv824520 1 147304417 147479240 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434888 S 31 0 1 "" NA18942 nsv470736 1 147305743 148039974 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547768 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FCGR1A,FCGR1C,HIST2H2BF,LOC388692,LOC728855,PPIAL4A,PPIAL4C HGDP00919 nsv818422 1 147305744 147311729 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415880,nssv1416295,nssv1418414,nssv1417221,nssv1416296,nssv1417992,nssv1417592 M 112 1 6 "" NA06991,NA11995,NA18576,NA18855,NA18857,NA18978,NA19142 dgv34n27 1 147305744 147331145 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463528,nsv463539,nsv463583,nsv463550,nsv463572,nsv463561 M 1557 0 6 "" 1780854095_A,1780854455_A,1780862246_A,1780862261_A,1780862384_A,NINDS_38 nsv818433 1 147305744 147331145 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416494,nssv1418340,nssv1416483,nssv1417386 M 112 0 4 "" NA10857,NA12044,NA12239,NA18949 nsv818445 1 147305744 147427061 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417965,nssv1416217,nssv1416293,nssv1417264,nssv1416215,nssv1417966,nssv1418039,nssv1417881 M 112 0 8 "" NA06985,NA07348,NA07357,NA10851,NA11881,NA12057,NA18593,NA18856 dgv35n27 1 147305744 147478120 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463672,nsv463705,nsv463628,nsv463605,nsv463661,nsv463750,nsv463617,nsv463716,nsv463728,nsv463639,nsv463683,nsv463594,nsv463739,nsv463650,nsv463694 M 1557 0 15 "" HGDP00007,HGDP00033,HGDP00045,HGDP00458,HGDP00530,HGDP00607,HGDP00612,HGDP00615,HGDP00720,HGDP00768,HGDP00772,HGDP00881,HGDP01096,HGDP01242,HGDP01375 nsv433189 1 147305744 147478120 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463070 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18555 nsv818456 1 147305744 147478120 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418040,nssv1418041,nssv1417200,nssv1415807,nssv1418528,nssv1416998,nssv1417117,nssv1417311,nssv1415808,nssv1418527,nssv1417517 M 112 3 8 "" NA06994,NA10830,NA10859,NA10860,NA11882,NA11993,NA12154,NA12264,NA18558,NA18608,NA18968 dgv11n17 1 147306554 147431908 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437069,nsv437091 M 60 0 2 "" NA10830,NA12752 esv2750808 1 147306690 147522032 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981512,essv6988412 M 771 1 0 "" BEC_289 esv2750809 1 147306690 147980523 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985823,essv6985822 M 771 1 0 FCGR1C,LOC388692,LOC728855,PPIAL4A,PPIAL4C SPC_61 nsv437993 1 147308446 147309299 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468097,nssv468086 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10857,NA12044 nsv437058 1 147308446 147356586 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466939 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10857 dgv12n17 1 147308446 147390776 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437102,nsv437080 M 60 0 2 "" NA07348,NA12753 nsv872356 1 147333299 147396684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512212 S 6533 0 1 "" SP55346 dgv371n71 1 147333299 147478120 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872359,nsv872357,nsv872358,nsv872365 M 6533 0 6 "" SP50921,SP51254,SP54294,SP55843,SP56965,SP81015 nsv437113 1 147356586 147390776 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466994 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv437242 1 147373047 147395259 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467123 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18506 nsv831481 1 147381554 147607012 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450117,nssv1450039,nssv1450184,nssv1450139,nssv1450084,nssv1450172,nssv1450050,nssv1450073,nssv1450128,nssv1449995,nssv1450061,nssv1450028,nssv1450195,nssv1450106,nssv1450017,nssv1450150,nssv1449984,nssv1449973,nssv1450206,nssv1450095,nssv1450228,nssv1450161,nssv1449962,nssv1450006,nssv1450217 M 95 25 0 LOC388692 nsv872366 1 147396684 147503683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519469 S 6533 0 1 "" SP81047 nsv819198 1 147404137 147421972 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418670 S 2 1 0 "" AK1 dgv372n71 1 147407083 147548553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872370,nsv872372,nsv872367,nsv872368 M 6533 0 10 LOC388692 SP50562,SP50753,SP52175,SP52231,SP54650,SP54680,SP56041,SP56707,SP56816,SP57163 dgv373n71 1 147422717 147503683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872379,nsv872369,nsv872371 M 6533 0 3 "" SP51062,SP53528,SP55346 dgv374n71 1 147427061 147657999 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872374,nsv872380,nsv872373 M 6533 0 102 FCGR1C,LOC388692 IS30054,IS30221,IS30515,IS32395,IS32858,IS33243,IS34622,IS35299,IS37293,IS37554,IS37639,IS38015,IS38660,IS38669,IS39457,IS39499,IS40130,IS40570,IS40665,IS40890,IS40930,IS41009,IS41737,IS41867,IS41868,IS41898,MS10535,MS10548,MS10709,MS11087,MS11854,MS12149,MS12191,MS12624,MS12656,MS13030,MS13118,MS13441,MS13448,MS13744,MS13795,MS14010,MS14266,MS14287,MS14296,MS14374,MS15050,MS15066,MS15491,MS15601,MS15780,MS15803,MS15925,MS16023,MS16117,MS16537,MS16711,MS17156,MS17237,MS17431,MS17563,MS17798,MS18124,MS18248,MS18876,MS18894,MS18956,MS19334,MS19360,MS19645,MS19685,MS20030,MS20170,MS22616,MS22765,MS23376,MS23451,MS23697,MS23889,MS24248,MS25177,MS25303,MS26119,MS26128,SP50836,SP50916,SP51146,SP52518,SP52933,SP54023,SP55310,SP56658,SP56843,SP56912,SP56986,SP57754,SP58008,SP58377,SP58389,SP58408,SP80909,SP81241 dgv375n71 1 147427061 147802532 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872375,nsv872385,nsv872387,nsv872376,nsv872381 M 6533 0 44 FCGR1C,LOC388692 IS31323,IS31825,IS32517,IS33208,IS33248,IS33675,IS34047,IS35231,IS35538,IS35704,IS36563,IS36939,IS37194,IS37651,IS37909,IS38113,IS38145,IS38290,IS38346,IS38421,IS38505,IS38617,IS39647,IS39966,IS40373,IS40495,IS41292,IS41810,IS41870,MS11181,MS12510,MS13099,MS14610,MS14855,MS14918,MS14940,MS17305,MS21637,MS24783,SP50749,SP54095,SP54622,SP54726,SP80924 nsv872377 1 147430593 147467750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513707 S 6533 0 1 "" SP55834 nsv2766 1 147431865 147465228 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3325 S 9 1 0 "" NA12878 nsv872378 1 147435422 147849072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590465 S 6533 1 0 FCGR1C,LOC388692,LOC728855,PPIAL4A,PPIAL4C IS38515 nsv438004 1 147467750 147484617 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468119,nssv468141,nssv468152,nssv468186,nssv468163,nssv468174,nssv468108,nssv468130 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA07048,NA07055,NA10857,NA12044,NA18506,NA18508,NA18856,NA18857 dgv376n71 1 147478120 147779233 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872383,nsv872382 M 6533 3 0 FCGR1C,LOC388692 IS33812,MS11569,MS15118 nsv872384 1 147478120 148082160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592583 S 6533 1 0 FCGR1A,FCGR1C,HIST2H2AA3,HIST2H2AA4,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC388692,LOC728855,PPIAL4A,PPIAL4C IS39243 dgv13n17 1 147481804 147509945 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437135,nsv437124 M 60 0 2 "" NA06991,NA07048 nsv438015 1 147495710 147509945 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468208,nssv468197 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19099,NA19100 dgv19n16 1 147500084 147950526 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436019,nsv436022,nsv436810 M 2 2 0 FCGR1C,LOC388692,LOC728855,PPIAL4A,PPIAL4C NA15510,NA18505 nsv437243 1 147505129 147515551 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467124 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 nsv872386 1 147512738 147643276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501451,nssv1504855 M 6533 0 2 FCGR1C,LOC388692 SP50753,SP52782 esv2421626 1 147523315 147710728 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5069989,essv5084415,essv5087029,essv5045941,essv5085349,essv5042347,essv5109064,essv5102155,essv5061438,essv5070523,essv5131411,essv5119211,essv5126850,essv5026867,essv5146732 M 1184 0 15 FCGR1C,LOC388692 NA06985,NA11839,NA11840,NA12775,NA18978,NA19099,NA19434,NA19750,NA20506,NA20543,NA20805,NA20875,NA20882,NA20892,NA20899 dgv377n71 1 147561293 147654742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872389,nsv872388 M 6533 0 5 FCGR1C SP50921,SP51254,SP54225,SP55131,SP56965 nsv159959 1 147561530 147561530 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178537 M 24 "" nsv436776 1 147579769 147580285 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465842 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv378n71 1 147593053 147802532 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872391,nsv872390 M 6533 3 0 FCGR1C MS25190,SP50695,SP54434 nsv436282 1 147593087 147700280 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465843 S 2 0 1 Samples from several populations that are part of the HapMap project. FCGR1C NA18505 esv2001343 1 147603945 147604475 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857576 S 1 0 1 "" NA18507 nsv160403 1 147604130 147604449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178981 M 24 "" dgv20n16 1 147616382 147995101 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436360,nsv436451 M 2 0 1 FCGR1C,LOC728855,PPIAL4A,PPIAL4C NA18505 dgv379n71 1 147657999 147844664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872392,nsv872393 M 6533 0 3 LOC728855,PPIAL4A,PPIAL4C IS41892,IS41909,MS21863 dgv380n71 1 147657999 147872275 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872402,nsv872401,nsv872394 M 6533 20 4 LOC728855,PPIAL4A,PPIAL4C IS30066,IS31758,IS33935,IS34582,IS39095,IS39992,MS11497,MS12597,MS13491,MS14326,MS15508,MS16023,MS18185,MS19652,MS20355,MS20356,MS20843,MS21130,MS21159,MS21700,MS25305,SP50148,SP55937,SP57701 dgv381n71 1 147657999 147884074 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872404,nsv872395,nsv872403 M 6533 7 0 LOC728855,PPIAL4A,PPIAL4C IS33192,MS11276,MS17580,MS22262,MS25968,SP50921,SP81491 dgv382n71 1 147699516 147844664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872400,nsv872399,nsv872397,nsv872396 M 6533 0 7 LOC728855,PPIAL4A,PPIAL4C IS30147,IS34358,IS34803,MS11105,MS26119,SP52713,SP58408 nsv872398 1 147699516 147938217 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544632 S 6533 1 0 LOC728855,PPIAL4A,PPIAL4C MS16406 esv21909 1 147776324 148068446 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18080,esv17065,esv18658,esv18420,esv19635 M 451 35 0 FCGR1A,HIST2H2BF,HIST2H3D,LOC728855,PPIAL4A,PPIAL4C NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv383n71 1 147779233 147856593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872408,nsv872407,nsv872406,nsv872405 M 6533 0 10 LOC728855,PPIAL4A,PPIAL4C IS35470,IS41783,MS10064,MS13093,MS15704,MS17130,MS21992,MS22524,SP54704,SP58536 dgv384n71 1 147779233 147872275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872410,nsv872409 M 6533 0 2 LOC728855,PPIAL4A,PPIAL4C MS18947,SP57250 esv999046 1 147780847 147858954 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586719 S 3 0 1 LOC728855,PPIAL4A,PPIAL4C HuRef nsv872411 1 147805510 147872275 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540684 S 6533 1 0 LOC728855,PPIAL4A,PPIAL4C MS14961 nsv872412 1 147825852 147938217 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562595 S 6533 1 0 LOC728855 MS25669 nsv831492 1 147840444 148001850 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450239,nssv1450250 M 95 2 0 LOC728855 nsv508035 1 147843005 147849005 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618506 S 4 0 1 LOC728855 CHM dgv73n67 1 147847659 148049427 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824531,nsv824542,nsv824553 M 31 3 0 FCGR1A,HIST2H2BF,LOC728855 AK18,NA18564,NA18582 nsv824564 1 147847659 148081740 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426414 S 31 1 0 FCGR1A,HIST2H2AA3,HIST2H2AA4,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,LOC728855 AK6 nsv872413 1 147849072 148018990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539058 S 6533 1 0 LOC728855 MS14093 nsv8313 1 147883281 147884600 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21411,nssv21416,nssv26195 M 31 0 3 Samples from several populations that are part of the HapMap project. LOC728855 NA18860,NA19007,NA19221 nsv508036 1 147890771 147896771 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622295,nssv621478,nssv618507 M 4 0 3 "" CHM,NA10860,NA15510 nsv8325 1 147897271 147898555 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24905 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv831503 1 147907267 148087465 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450272,nssv1450429,nssv1450383,nssv1450495,nssv1450440,nssv1450361,nssv1450407,nssv1450339,nssv1450484,nssv1450394,nssv1450451,nssv1450372,nssv1450418,nssv1450317,nssv1450261,nssv1450462,nssv1450328,nssv1450283,nssv1450350,nssv1450295,nssv1450473,nssv1450306 M 95 22 0 FCGR1A,HIST2H2AA3,HIST2H2AA4,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B nsv8336 1 147911430 147931350 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20076,nssv25170,nssv21393,nssv23383,nssv23058,nssv19756,nssv22423 M 31 7 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18504,NA18517,NA18552,NA18563 nsv436741 1 147916417 147923330 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465846 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv831514 1 147920576 147979384 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450518,nssv1450540,nssv1450529,nssv1450506 M 95 4 0 "" nsv2777 1 147949001 148007267 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3361,nssv2514 M 9 0 2 "" NA12878,NA18555 nsv469694 1 147955476 148102904 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649626 M 265 0 3 Samples from several populations that are part of the HapMap project. FCGR1A,HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B nsv831525 1 147968161 148144657 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450562,nssv1450551 M 95 2 0 BOLA1,FCGR1A,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,SV2A nsv872414 1 147972023 148035479 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512100 S 6533 1 0 FCGR1A,HIST2H2BF SP55279 essv23032 1 147976465 148165420 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BOLA1,FCGR1A,HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B,SF3B4,SV2A NA12812 nsv436629 1 147980066 147986333 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465847 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv160066 1 147981074 147984910 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178644 M 24 "" nsv8347 1 148017262 148020194 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19745,nssv20086 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18552 esv1007634 1 148038750 148120218 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564759 S 3 0 0 HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B HuRef nsv7182 1 148039862 148133136 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11074,nssv1527,nssv2522,nssv7036,nssv7042 M 9 0 0 HIST2H2AA3,HIST2H2AA4,HIST2H2AB,HIST2H2AC,HIST2H2BC,HIST2H2BE,HIST2H2BF,HIST2H3A,HIST2H3C,HIST2H3D,HIST2H4A,HIST2H4B NA12156,NA15510,NA18555,NA19240 nsv499132 1 148081703 148109486 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585489 S 9 0 0 HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H3A,HIST2H3C,HIST2H4A,HIST2H4B nsv46 1 148088263 148119731 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv46 S 1 0 0 HIST2H2AA3,HIST2H2AA4,HIST2H2BC,HIST2H3A,HIST2H3C,HIST2H4A,HIST2H4B NA15510 nsv831537 1 148099981 148331279 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450573 S 95 0 1 BOLA1,HIST2H2AB,HIST2H2AC,HIST2H2BE,MTMR11,OTUD7B,SF3B4,SV2A,VPS45 nsv508037 1 148155374 148161374 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618508 S 4 0 1 SV2A CHM nsv8358 1 148242418 148243695 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25444 S 31 1 0 Samples from several populations that are part of the HapMap project. OTUD7B NA12155 nsv8369 1 148261641 148263312 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25185,nssv21762,nssv25450,nssv19105,nssv23368,nssv19419,nssv20757,nssv20737,nssv21753 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA11830,NA12740,NA18502,NA18517,NA18980,NA19132,NA19173 esv2021360 1 148304282 148304733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967437 S 1 0 1 "" NA18507 esv993878 1 148304472 148304527 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571411 S 3 0 1 "" HuRef esv1213532 1 148304476 148304532 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675460 S 2 0 1 "" HuRef nsv160821 1 148304477 148304532 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179399 M 24 "" esv2605621 1 148312730 148314268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310051 S 1 0 1 VPS45 NA18507 esv2061124 1 148313433 148314047 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928106 S 1 0 1 VPS45 NA18507 esv271753 1 148466730 148466815 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519307,essv2518465,essv2513647 M 157 3 0 Samples from several populations that are part of the HapMap project. ANP32E NA07347,NA11894,NA12287 nsv872415 1 148477162 148514670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517059 S 6533 0 1 APH1A,C1orf54,CA14 SP57078 nsv831548 1 148535332 148702340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450595,nssv1450584 M 95 0 2 MRPS21,PRPF3,RPRD2 nsv872416 1 148605914 148724718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513907 S 6533 0 1 RPRD2 SP55878 esv2540817 1 148649905 148651451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361304 S 1 0 1 RPRD2 NA18507 esv989789 1 148650194 148650888 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563716 S 3 0 1 RPRD2 HuRef esv274946 1 148654494 148656678 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585625 S 1250 0 1 RPRD2 esv999047 1 148672931 148672931 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573145 S 3 1 0 RPRD2 HuRef nsv527379 1 148793978 148808752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703811 S 2026 0 1 ADAMTSL4 esv24209 1 148867816 148868930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16022 S 451 0 1 ENSA NA12239 nsv872417 1 148885256 149026603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514673 S 6533 0 1 CTSS,GOLPH3L,HORMAD1 SP56047 esv2427260 1 148885258 148886772 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264499 S 1 0 1 GOLPH3L NA18507 nsv437158 1 148918826 148950136 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467039 S 60 0 1 Samples from several populations that are part of the HapMap project. GOLPH3L,HORMAD1 NA12753 nsv520425 1 148936576 148940308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671343,nssv678859 M 2026 0 2 HORMAD1 nsv528859 1 148940308 148942107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705538 S 2026 0 1 HORMAD1 esv2570262 1 148948199 148949704 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166946 S 1 0 1 HORMAD1 NA18507 nsv872418 1 148950136 149127095 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575995 S 6533 1 0 ARNT,CTSK,CTSS,HORMAD1 IS33857 esv2609983 1 148957357 148958940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338574 S 1 0 1 HORMAD1 NA18507 esv2238986 1 148957867 148958589 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877414 S 1 0 1 HORMAD1 NA18507 esv3600 1 148958026 148958489 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26041 S 1 0 1 Single Asian sample YH HORMAD1 YH esv992009 1 148958060 148958393 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568671 S 3 0 1 HORMAD1 HuRef esv2482983 1 148958064 148958397 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379373 S 1 0 1 HORMAD1 NA18507 esv1594619 1 148958075 148958409 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650548 S 2 0 1 HORMAD1 HuRef esv9188 1 148958078 148958382 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31629 S 1 0 1 HORMAD1 SJK esv271028 1 148963212 148963387 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495356,essv2508388,essv2504202,essv2496195,essv2494801,essv2495163,essv2501447,essv2511567,essv2504368 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12287,NA12749,NA18505,NA18511,NA18519,NA18964,NA19093 nsv872419 1 148965823 149005383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507183 S 6533 0 1 CTSS SP54490 esv1299298 1 148982717 148983258 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241887 S 2 0 1 CTSS HuRef esv1542672 1 148983446 148983553 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157126 S 2 0 1 CTSS HuRef nsv437169 1 149004821 149083510 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467050 S 60 0 1 Samples from several populations that are part of the HapMap project. ARNT,CTSK,CTSS NA12753 nsv2788 1 149021958 149067409 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7052 S 9 0 1 ARNT,CTSK NA12156 nsv2799 1 149030823 149045059 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3372 S 9 1 0 CTSK NA12878 nsv160180 1 149031900 149039294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178758 M 24 CTSK nsv872420 1 149052662 149114271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514674 S 6533 0 1 ARNT SP56047 esv5926 1 149084440 149084543 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28367 S 1 1 0 ARNT SJK nsv2810 1 149101797 149146493 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7643 S 9 0 1 ARNT NA12156 esv26053 1 149126912 149129465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11698 S 451 0 1 "" NA12776 nsv522317 1 149200347 149240786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695097 S 2026 0 1 ANXA9,CERS2,FAM63A,SETDB1 nsv522840 1 149200347 149614370 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698492 S 2026 1 0 ANXA9,BNIPL,C1orf56,CDC42SE1,CERS2,FAM63A,GABPB2,LYSMD1,MLLT11,PI4KB,PIP5K1A,PRUNE,PSMD4,RFX5,SCNM1,SELENBP1,SEMA6C,SETDB1,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 esv1745722 1 149279705 149279705 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884163 S 2 1 0 BNIPL HuRef nsv872421 1 149322294 149364701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507483,nssv1516762 M 6533 0 2 GABPB2 SP54604,SP56927 dgv385n71 1 149364701 149382621 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872422,nsv872423 M 6533 0 2 SEMA6C SP54956,SP54988 dgv2n68 1 149376083 149548402 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831570,nsv831559 M 95 0 3 LYSMD1,PI4KB,PIP5K1A,PSMD4,SCNM1,SEMA6C,TMOD4,TNFAIP8L2,TNFAIP8L2-SCNM1,VPS72,ZNF687 esv34461 1 149507166 149678259 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979360,essv6990355 M 771 1 0 PI4KB,POGZ,PSMB4,RFX5,SELENBP1,ZNF687 NA18537 nsv2821 1 149537748 149568583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7059 S 9 1 0 PI4KB NA12156 nsv831581 1 149555775 149745229 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450640 S 95 0 1 PI4KB,POGZ,PSMB4,RFX5,SELENBP1 esv25158 1 149557942 149560422 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16335 S 451 1 0 PI4KB NA18505 nsv438026 1 149585357 149611327 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468219,nssv468230 M 269 0 2 Samples from several populations that are part of the HapMap project. RFX5,SELENBP1 NA18853,NA18854 dgv386n71 1 149591679 149680414 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872425,nsv872430,nsv872435,nsv872431,nsv872434,nsv872424,nsv872432,nsv872429,nsv872433 M 6533 29 0 POGZ,PSMB4,SELENBP1 IS35676,IS38322,IS41603,MS10702,MS12202,MS14769,MS16677,MS16728,MS16752,MS17974,MS18695,MS23098,MS24275,MS25789,SP50170,SP50183,SP50963,SP51206,SP51506,SP52458,SP52908,SP54083,SP54249,SP55748,SP55835,SP56132,SP58553,SP80947,SP80988 dgv128e1 1 149595418 149678259 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7497,essv619,essv2915,essv2123,esv1024,essv4927 M 271 0 0 POGZ,PSMB4,SELENBP1 NA18537,NA18561,NA18959,NA18998,NA19007 nsv872426 1 149595762 149622482 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515118,nssv1515798 M 6533 2 0 SELENBP1 SP56125,SP56271 nsv872427 1 149595762 149637929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499553 S 6533 1 0 SELENBP1 SP50528 nsv872428 1 149595762 149662406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508434 S 6533 1 0 POGZ,PSMB4,SELENBP1 SP54585 nsv8380 1 149596511 149676970 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20745,nssv21776 M 31 2 0 Samples from several populations that are part of the HapMap project. POGZ,PSMB4,SELENBP1 NA18537,NA19007 nsv824575 1 149598157 149674720 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439481 S 31 1 0 POGZ,PSMB4,SELENBP1 NA18537 nsv470737 1 149599791 149671472 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547771,nssv547769,nssv547770 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations POGZ,PSMB4,SELENBP1 HGDP00714,HGDP01185,HGDP01305 nsv818467 1 149599791 149671472 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417131,nssv1417433 M 112 2 0 POGZ,PSMB4,SELENBP1 NA18537,NA18952 dgv36n27 1 149599791 149679804 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463827,nsv463816,nsv463772,nsv463839,nsv463783,nsv463761,nsv463805,nsv463794 M 1557 8 0 POGZ,PSMB4,SELENBP1 HGDP00127,HGDP00714,HGDP00782,HGDP00964,HGDP01185,HGDP01305,HGDP01308,HGDP01311 nsv441714 1 149603323 149664502 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 POGZ,PSMB4,SELENBP1 nsv872436 1 149623957 149679804 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501328,nssv1502066 M 6533 2 0 POGZ,PSMB4 SP51042,SP51118 dgv387n71 1 149639689 149679804 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872437,nsv872438 M 6533 3 0 POGZ,PSMB4 SP50925,SP52732,SP81059 nsv872439 1 149653089 149674317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516466 S 6533 1 0 POGZ SP56842 nsv872440 1 149662661 149679804 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507111 S 6533 1 0 POGZ SP54471 nsv2832 1 149684882 149718464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1545 S 9 1 0 POGZ NA19240 nsv824587 1 149690655 149692635 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424767 S 31 0 1 POGZ AK2 nsv522757 1 149787355 149788557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698396 S 2026 0 1 TUFT1 esv1185841 1 149839907 149839957 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121194 S 2 0 1 "" HuRef esv1721931 1 149839970 149840092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160875 S 2 0 1 "" HuRef nsv2843 1 149866693 149911333 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7656 S 9 0 1 SNX27 NA12156 esv2371131 1 150019172 150019613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766823 S 1 0 1 TDRKH NA18507 nsv516369 1 150046801 150086948 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672480,nssv694803,nssv667816 M 2026 3 0 C2CD4D,LOC100132111,RORC,THEM5 nsv160848 1 150056233 150063393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179426 M 24 RORC nsv872441 1 150116696 150301054 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574838 S 6533 1 0 S100A10,S100A11,THEM4 IS33636 nsv2855 1 150203094 150233005 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7664 S 9 0 1 S100A10 NA12156 nsv872442 1 150320744 150454265 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574839 S 6533 1 0 HRNR,RPTN,TCHH,TCHHL1 IS33636 nsv2866 1 150327470 150360018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10264 S 9 1 0 TCHH,TCHHL1 NA18956 nsv438037 1 150346613 150350663 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468252,nssv468241 M 269 0 2 Samples from several populations that are part of the HapMap project. TCHH NA12707,NA12716 esv1225012 1 150347037 150347816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990659 S 2 0 1 TCHH HuRef esv2815 1 150347423 150347955 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25256 S 1 0 1 Single Asian sample YH TCHH YH nsv482125 1 150392695 150398328 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558486 S 1 0 1 RPTN KB1 esv2221423 1 150395511 150395931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709283 S 1 0 1 RPTN NA18507 nsv509468 1 150426756 150538497 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619814,nssv621103,nssv623794 M 4 3 0 HRNR NA10860,NA15510,NA18994 nsv528426 1 150428359 150428730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705019 S 2026 0 1 "" nsv2877 1 150430147 150472214 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3381,nssv2531,nssv11080,nssv7067 M 9 4 0 HRNR NA12156,NA12878,NA15510,NA18555 nsv57 1 150449799 150453775 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv57 S 1 1 0 HRNR NA15510 nsv471347 1 150451182 150463293 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548038,nssv548040,nssv548039 M 3 HRNR nsv8391 1 150451952 150460707 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23693,nssv22751,nssv27160,nssv22106,nssv21082,nssv20075,nssv21067,nssv19749,nssv22083,nssv20406,nssv21075,nssv24289,nssv21769,nssv20416,nssv20424,nssv25703 M 31 15 1 Samples from several populations that are part of the HapMap project. HRNR NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA19007 nsv514913 1 150451984 150453776 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628455 S 1414 0 0 HRNR esv2159882 1 150452173 150453901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567129 S 1 0 1 HRNR NA18507 dgv74n67 1 150452278 150460144 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824598,nsv824609,nsv824620 M 31 4 0 HRNR NA18552,NA18582,NA18949,NA18999 esv29399 1 150452493 150463348 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20602,esv19713 M 451 22 1 HRNR NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA18511,NA18858,NA18861,NA18916,NA19099,NA19225 esv1763423 1 150454544 150457364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606906 S 2 0 1 HRNR HuRef dgv75n67 1 150458010 150460144 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824642,nsv824631 M 31 4 0 HRNR AK10,AK20,AK4,NA18942 nsv159214 1 150480555 150490330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177792 M 24 "" esv1003613 1 150500702 150543456 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563823 S 3 0 0 FLG HuRef nsv7183 1 150529970 150550238 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2542 S 9 0 0 FLG NA18555 esv25681 1 150540839 150554163 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20418,esv18892 M 451 0 9 FLG NA06985,NA12044,NA18505,NA18511,NA18858,NA18907,NA19108,NA19240,NA19257 nsv471348 1 150541275 150564303 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548043,nssv548041,nssv548042 M 3 FLG nsv821364 1 150544324 150546204 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420636 S 1 1 0 FLG NA10851 esv1330223 1 150545285 150546257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639326 S 2 0 1 FLG HuRef nsv824653 1 150547164 150549783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423730 S 31 0 1 FLG NA18968 nsv159623 1 150547363 150551253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178201 M 24 FLG esv2593579 1 150589771 150591298 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179622 S 1 0 1 FLG2 NA18507 esv2043587 1 150590634 150591133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863264 S 1 0 1 FLG2 NA18507 nsv516541 1 150643334 150657076 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669003,nssv672545 M 2026 0 2 CRNN nsv872443 1 150666679 150726371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528613 S 6533 0 1 "" SP81324 dgv388n71 1 150666985 150707377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872445,nsv872444 M 6533 0 3 "" SP50085,SP53276,SP54621 nsv824664 1 150675648 150701067 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431103 S 31 0 1 "" AK18 nsv463850 1 150677714 150700633 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539866 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01193 esv272095 1 150710508 150710593 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516786 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv24965 1 150718850 150719885 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17631 S 451 0 1 "" NA18909 esv2750810 1 150720293 150927551 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980785,essv6988316,essv6985409,essv6980783,essv6980784 M 771 1 0 CRCT1,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE5A BEC_158 dgv129e1 1 150739463 150853737 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3194,essv671,essv1277,essv20799,essv2499,essv7028,essv5149,essv21128,essv21762,essv11002,essv6024,essv20328,essv6828,essv23769,essv23125,essv24506,essv19642,essv22486,essv22655,essv4622,essv24562,essv24989,essv2454,essv5723,essv7292,essv19087,essv2314,essv24148,essv13516,essv21452,essv4917,essv5116,essv4837,essv11742,essv15529,essv3135 M 271 0 0 CRCT1,LCE3B,LCE3C,LCE3D,LCE3E,LCE5A NA07055,NA10839,NA10847,NA11882,NA11992,NA12146,NA12155,NA12236,NA12239,NA12717,NA12752,NA12763,NA12802,NA12815,NA12891,NA18504,NA18505,NA18540,NA18561,NA18564,NA18571,NA18577,NA18579,NA18592,NA18593,NA18594,NA18612,NA18940,NA18969,NA18974,NA18975,NA18995,NA18999,NA19003,NA19143,NA19160 dgv130e1 1 150739463 150956697 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13141,essv818,essv16511,essv17307,essv18170,essv1524,essv2993,essv4754,essv49,essv12458,essv3900,essv1625,essv22558,essv10805,essv15432,essv18589,essv15143,essv17732,essv5526,essv24236,essv12570,essv10077,essv23205,essv12217,essv14165,essv6569,essv24817,essv16411,essv13747,essv5177,essv21007,essv9604,essv3306,essv24902,essv11520,essv1733,essv24652,essv18927,essv12366,essv16657,essv16944,essv8122,essv8933,essv5460,essv4597,essv8653,essv15727,essv17449,essv20282,essv123,essv4087,essv6255,essv12849,essv20883,essv10247,essv4969,essv13054,essv17068,essv20085,essv23040,essv11723,essv13647,essv10625,essv5321,essv11425,essv9026,essv16324,essv16142,essv23881,essv14339,essv21373,essv266,essv558,essv16789,essv17209,essv18275,essv10158,essv15662,essv16842,essv21509,essv18758,essv11099,essv1455,essv20650,essv2099,essv20565,essv1167,essv18837,essv448,essv2842,essv22054,essv18109,essv2188,essv19537,essv7812,essv23597,essv1123,essv2277,essv10323,essv5278,essv13671 M 271 0 0 CRCT1,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A NA06991,NA06994,NA07048,NA07056,NA07348,NA10846,NA10856,NA10860,NA11829,NA11993,NA12005,NA12006,NA12043,NA12057,NA12144,NA12154,NA12156,NA12234,NA12740,NA12751,NA12801,NA12812,NA12814,NA12864,NA12872,NA12873,NA12874,NA12892,NA18506,NA18523,NA18524,NA18529,NA18558,NA18563,NA18611,NA18620,NA18621,NA18624,NA18632,NA18635,NA18636,NA18637,NA18852,NA18855,NA18856,NA18857,NA18872,NA18912,NA18942,NA18944,NA18949,NA18951,NA18952,NA18953,NA18960,NA18964,NA18966,NA18968,NA18972,NA18973,NA18978,NA18980,NA18981,NA18991,NA18994,NA18997,NA18998,NA19098,NA19099,NA19100,NA19101,NA19102,NA19119,NA19120,NA19127,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19152,NA19153,NA19154,NA19171,NA19172,NA19173,NA19193,NA19194,NA19200,NA19203,NA19205,NA19206,NA19207,NA19210,NA19211,NA19239 dgv131e1 1 150739463 151164777 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv788,essv13889 M 271 0 0 C1orf68,CRCT1,IVL,KPRP,LCE1A,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE3E,LCE4A,LCE5A,LCE6A,SMCP NA18854 nsv524241 1 150750753 150755052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700131 S 2026 0 1 CRCT1,LCE5A nsv518413 1 150755052 150764309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695848 S 2026 0 1 CRCT1 nsv526150 1 150763838 150764309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702409 S 2026 0 1 "" dgv37n27 1 150776972 150819989 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463872,nsv463861 M 1557 0 2 LCE3D,LCE3E HGDP00999,HGDP01019 dgv38n27 1 150796456 150819989 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463962,nsv463951,nsv463927,nsv463916,nsv463973,nsv463894,nsv463905,nsv463883,nsv463938 M 1557 0 9 LCE3D,LCE3E HGDP00703,HGDP00706,HGDP00708,HGDP00837,HGDP00852,HGDP00865,HGDP00995,HGDP01058,HGDP01059 dgv39n27 1 150796456 150857766 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463984,nsv464006,nsv463995 M 1557 0 3 LCE3B,LCE3C,LCE3D,LCE3E HGDP00846,HGDP00868,HGDP00998 nsv470739 1 150797134 150819989 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547772,nssv547777,nssv547776,nssv547773,nssv547779,nssv547774,nssv547775 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LCE3D,LCE3E HGDP00703,HGDP00706,HGDP00708,HGDP00865,HGDP01038,HGDP01039,HGDP01049 nsv516961 1 150797134 150819989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686060,nssv693224,nssv653515,nssv680007,nssv667208,nssv659830,nssv692439,nssv657450,nssv679487,nssv688607 M 2026 0 10 LCE3D,LCE3E nsv872446 1 150797134 150857766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532907 S 6533 0 1 LCE3B,LCE3C,LCE3D,LCE3E MS10941 nsv2888 1 150798761 150887068 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5985,nssv11087,nssv9615,nssv1552,nssv10268,nssv2551,nssv9359,nssv3390 M 9 0 8 LCE3A,LCE3B,LCE3C,LCE3D,LCE3E NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv437244 1 150803779 150850302 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467125 S 60 0 1 Samples from several populations that are part of the HapMap project. LCE3C,LCE3D,LCE3E NA18515 nsv68 1 150816580 150875096 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv68 S 1 0 1 LCE3A,LCE3B,LCE3C,LCE3D NA15510 esv33483 1 150816893 151042150 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98754,essv98704,essv97493,essv93810,essv93828,essv100764,essv96856,essv101042,essv95183,essv98300,essv98246,essv94795,essv94796,essv94137,essv94039,essv94316,essv94334,essv97006,essv97052,essv97887,essv95694,essv95697,essv95538,essv93005,essv95359,essv97429,essv95814,essv95790,essv99032,essv92884,essv92919,essv92668,essv92811,essv93692,essv93786,essv96115,essv96230,essv96211,essv96585,essv97146,essv97157,essv98542,essv99761,essv96046,essv96071,essv93477,essv93498,essv93406,essv93410,essv93265,essv93180,essv99645,essv94920,essv95019,essv95029,essv98042,essv98110,essv96541,essv96473,essv97723,essv100138,essv100196,essv100588,essv100466,essv100423,essv99409,essv98386,essv96298 M 51 39 4 C1orf68,KPRP,LCE1D,LCE1E,LCE1F,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE3D,LCE4A 21606,21616,21634,21656,21659,21693,21721,21772,21791,21802,21808,21817,21837,21841,21847,21863,21872,21879,21911,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22259,22261,22278,22286,22298,22300,22335,22352,22371 dgv389n71 1 150817900 150909784 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872448,nsv872447 M 6533 10 0 LCE2D,LCE3A,LCE3B,LCE3C,LCE3D MS10362,MS10709,MS11919,MS12688,MS14544,MS15803,MS16158,MS16396,MS16494,MS23142 dgv2n31 1 150819552 150856898 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471493,nsv471494 M 3 LCE3B,LCE3C,LCE3D nsv437245 1 150819989 150830408 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467126 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv437247 1 150819989 150850302 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467128 S 60 0 1 Samples from several populations that are part of the HapMap project. LCE3C NA19240 esv2615503 1 150821098 150857078 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222962 S 1 0 1 LCE3B,LCE3C NA18507 esv998954 1 150821543 150856341 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564089 S 3 0 1 LCE3B,LCE3C HuRef dgv21n16 1 150821592 150855544 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435659,nsv436496 M 2 0 2 LCE3B,LCE3C NA15510,NA18505 nsv8402 1 150821656 150857098 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27290,nssv21087,nssv20410,nssv18448,nssv19751,nssv21084,nssv19435,nssv20735,nssv22413,nssv20405,nssv22741,nssv26169,nssv23069,nssv26173,nssv25465,nssv24288,nssv21076,nssv24579,nssv21412,nssv25948,nssv20754,nssv24894,nssv20079,nssv23994,nssv20746,nssv21772,nssv20740,nssv25944 M 31 8 10 Samples from several populations that are part of the HapMap project. LCE3B,LCE3C NA07048,NA10839,NA10847,NA12155,NA12740,NA12802,NA12872,NA18504,NA18552,NA18563,NA18564,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173 nsv510990 1 150821664 150871827 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618600,nssv622426,nssv621656,nssv624364 M 4 0 0 LCE3A,LCE3B,LCE3C CHM,NA10860,NA15510,NA18994 nsv438048 1 150821800 150850302 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468763,nssv468396,nssv469075,nssv468463,nssv468908,nssv468785,nssv468385,nssv468607,nssv468641,nssv468452,nssv468408,nssv468563,nssv469086,nssv468685,nssv469119,nssv468363,nssv468875,nssv468541,nssv468886,nssv468341,nssv469063,nssv468840,nssv468997,nssv468774,nssv468274,nssv468986,nssv468741,nssv468807,nssv468829,nssv468297,nssv468941,nssv468752,nssv468507,nssv468864,nssv469019,nssv468919,nssv468718,nssv468930,nssv468964,nssv468319,nssv468530,nssv468519,nssv468674,nssv469030,nssv468897,nssv468707,nssv468729,nssv468618,nssv469097,nssv468308,nssv468574,nssv468430,nssv468330,nssv468419,nssv468263,nssv468696,nssv469108,nssv468952,nssv468853,nssv468496,nssv469008,nssv468374,nssv468975,nssv468285,nssv468485,nssv468474,nssv468552,nssv468630,nssv468585,nssv468596,nssv468796,nssv468441,nssv468818,nssv468663,nssv468652,nssv469052,nssv468352,nssv469041 M 269 0 49 Samples from several populations that are part of the HapMap project. LCE3C NA06985,NA06991,NA06993,NA07019,NA07034,NA07048,NA07055,NA07056,NA10831,NA10846,NA10851,NA10856,NA10859,NA11829,NA11882,NA12057,NA12145,NA12155,NA12707,NA12717,NA12752,NA12753,NA12760,NA12761,NA12763,NA12878,NA12891,NA18500,NA18502,NA18503,NA18505,NA18515,NA18517,NA18912,NA18914,NA19119,NA19120,NA19128,NA19129,NA19143,NA19145,NA19160,NA19161,NA19200,NA19202,NA19207,NA19208,NA19238,NA19240 esv2421966 1 150821800 150853218 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5137939,essv5043711,essv5048337,essv5017238,essv5116500,essv5025538,essv5018162,essv5150954,essv5089201,essv5071824,essv5140411,essv5002592,essv5117392,essv5130115,essv5079902,essv5104084,essv5069237,essv5091366,essv5119561,essv5047913,essv5131549,essv5075886,essv5076037,essv5143583,essv5079822,essv5036821,essv5018828,essv5041148,essv5007164,essv5049002,essv5155006,essv5002663,essv5024701,essv5042806,essv5092553,essv5110154,essv5103400,essv5066200,essv5104077,essv5121814,essv5012540,essv5042774,essv5013449,essv5006076,essv5072726,essv5008919,essv5150540,essv5026024,essv5059419,essv5020877,essv5009309,essv5086675,essv5097656,essv5091141,essv5109044,essv5021699,essv5155632,essv5044366,essv5131454,essv5081767,essv5128714,essv5079423,essv5095051,essv5148702,essv5045111,essv5085567,essv5150069,essv5015224,essv5043223,essv5001966,essv5019759,essv5111823,essv5031867,essv5105813,essv5129579,essv5130686,essv5114248,essv5051780,essv5079124,essv5148108,essv5110071,essv5133269,essv5015166,essv5032905,essv5063647,essv5025022,essv5071369,essv5156994,essv5139535,essv5021448,essv5028123,essv5011880,essv5058817,essv5083297,essv5006000,essv5124308,essv5084385,essv5054927,essv5115083,essv5141897,essv5058351,essv5095403,essv5022055,essv5019114,essv5030481,essv5112909,essv5041567,essv5033138,essv5059564,essv5016785,essv5014469,essv5131722,essv5150165,essv5033463,essv5054767,essv5070791,essv5146587,essv5123939,essv5154576,essv5147641,essv5129951,essv5152045,essv5093362,essv5044609,essv5118528,essv5057335,essv5150334,essv5057854,essv5057893,essv5143949,essv5103631,essv5154063,essv5144870,essv5007363,essv5138520,essv5104342,essv5138029,essv5158750,essv5017224,essv5107008,essv5113980,essv5089141,essv5031065,essv5132445,essv5108064,essv5033131,essv5146144,essv5089799,essv5091615,essv5034364,essv5115534,essv5100700,essv5065026,essv5128265,essv5127465,essv5114750,essv5052423,essv5033763,essv5008998,essv5056209,essv5024147,essv5096591,essv5118835,essv5013985,essv5021002,essv5034944,essv5002211,essv5125225,essv5103343,essv5143334,essv5035103,essv5134557,essv5141730,essv5137295,essv5079345,essv5007253,essv5098911,essv5071860,essv5065310,essv5125019,essv5141947,essv5031153,essv5015817,essv5152798,essv5077740,essv5010879,essv5043994,essv5007313,essv5112152,essv5036426,essv5134035,essv5037353,essv5074711,essv5118549,essv5046353,essv5050813,essv5026124,essv5140227,essv5117097,essv5066947,essv5025285,essv5067244,essv5095771,essv5082091,essv5153552,essv5047224,essv5135544,essv5157277,essv5082176,essv5083239,essv5054926,essv5059474,essv5030470,essv5029815,essv5062720,essv5013633,essv5033459,essv5067505,essv5095176,essv5003098,essv5062822,essv5134959,essv5137467,essv5002679,essv5031022,essv5116475,essv5060729,essv5136660,essv5059320,essv5136694,essv5012042,essv5047672,essv5014798,essv5131674,essv5023161,essv5038167,essv5101828,essv5134568,essv5056289,essv5006587,essv5153467,essv5031995,essv5020111,essv5094639,essv5048492,essv5132647,essv5066862,essv5089822,essv5133039,essv5044944,essv5109722,essv5022713,essv5058412,essv5093479,essv5055926,essv5131514,essv5025503,essv5015990,essv5006444,essv5065951,essv5145343,essv5025381,essv5024556,essv5056306,essv5110532,essv5106504,essv5096655,essv5084927,essv5115984,essv5076823,essv5094641,essv5101707,essv5018348,essv5136870,essv5087800,essv5129269,essv5126238,essv5018574,essv5142777,essv5015808,essv5020601,essv5127916,essv5062684,essv5059236,essv5141323,essv5030370,essv5034253,essv5027188,essv5109980,essv5048572,essv5061140,essv5026189,essv5035342,essv5085239,essv5085072,essv5111801,essv5022606,essv5072602,essv5017156,essv5025507,essv5094615,essv5111575,essv5033102,essv5004558,essv5134089,essv5032557,essv5047388,essv5094995,essv5032716,essv5042537,essv5012981,essv5092264,essv5014742,essv5044573,essv5146484,essv5082818,essv5130062,essv5126260,essv5050294,essv5123135,essv5006751,essv5023462,essv5092918,essv5110682,essv5030258,essv5074404,essv5149645,essv5046530,essv5016426,essv5055780,essv5006822,essv5137180,essv5117035,essv5004169,essv5040382,essv5030457,essv5078032,essv5122995,essv5050740,essv5141853,essv5010288,essv5036881,essv5108102,essv5006947,essv5038740,essv5057459,essv5133261,essv5009289,essv5140327,essv5059602,essv5075851,essv5004353,essv5076800,essv5113598,essv5022132,essv5101578,essv5052538,essv5058321,essv5106226,essv5093347,essv5116821,essv5091119,essv5030823,essv5065446,essv5154442,essv5140627,essv5078833,essv5137604,essv5143736,essv5109030,essv5152647,essv5119503,essv5071077,essv5074213,essv5030354,essv5156978,essv5049852,essv5160768,essv5105339,essv5082659,essv5004197,essv5028639,essv5031229,essv5114928,essv5110222,essv5069478,essv5040404,essv5132903,essv5031367,essv5100603,essv5049892,essv5030718,essv5122098,essv5117636,essv5052767,essv5004058,essv5058680,essv5048235,essv5141836,essv5002031,essv5049227,essv5136995,essv5048931,essv5038022,essv5003645,essv5023859,essv5074018,essv5099984,essv5052415,essv5008708,essv5068393,essv5042359,essv5091745,essv5057488,essv5142300,essv5062739,essv5117278,essv5024594,essv5039078,essv5078482,essv5013473,essv5123258,essv5152143,essv5021215,essv5158685,essv5142618,essv5110941,essv5059399,essv5028700,essv5011128,essv5126316,essv5097452,essv5103311,essv5053355,essv5138935,essv5132732,essv5005144,essv5147876,essv5017532,essv5002443,essv5032484,essv5016457,essv5144170,essv5049251,essv5006789,essv5131121,essv5065142,essv5080901,essv5022087,essv5030242,essv5054916,essv5083847,essv5087205,essv5154404,essv5064790,essv5078259,essv5152940,essv5159749,essv5019588,essv5145314,essv5006014,essv5049222,essv5051866,essv5034162,essv5137989,essv5012359,essv5049904,essv5022613,essv5106791,essv5123214,essv5158560,essv5070961,essv5068255,essv5131523,essv5035636,essv5068964,essv5096831,essv5022221,essv5094847,essv5085328,essv5024518,essv5091796,essv5031212,essv5050840,essv5112223,essv5102386,essv5084897,essv5130367,essv5043958,essv5080888,essv5036409,essv5092608,essv5143142,essv5143508,essv5084958,essv5010344,essv5138130,essv5013548,essv5003650,essv5017290,essv5143210,essv5032228,essv5070605,essv5010293,essv5040168,essv5037672,essv5137639,essv5100129,essv5036024,essv5127178,essv5146969,essv5146543,essv5085413,essv5139734,essv5021405,essv5131243,essv5086774,essv5047515,essv5090411,essv5108474,essv5044100,essv5040313,essv5031668,essv5132267,essv5153992,essv5126825,essv5118350,essv5098171,essv5142378,essv5077341,essv5075572,essv5064467,essv5115555,essv5146783,essv5017738,essv5041812,essv5019237,essv5093114,essv5121066,essv5096744,essv5147482,essv5043179,essv5074783,essv5019838,essv5148390,essv5049314,essv5141893,essv5016134,essv5088449,essv5103324,essv5019625,essv5044816,essv5026882,essv5025265,essv5074398,essv5077472,essv5097047,essv5005283,essv5092210,essv5105579,essv5097675,essv5045903,essv5110536,essv5088618,essv5117243,essv5135162,essv5056213,essv5144223,essv5151918,essv5051458,essv5007057,essv5082777,essv5045208,essv5012773,essv5123701,essv5021780,essv5112620,essv5011909,essv5099329,essv5114294,essv5092764,essv5141023,essv5160684,essv5028808,essv5130402,essv5070683,essv5132235,essv5005854,essv5019510,essv5003526,essv5044498,essv5147156,essv5096570,essv5143196,essv5111011,essv5158007,essv5030492,essv5101397,essv5089225,essv5115599,essv5031216,essv5009294,essv5054917,essv5110874,essv5094373,essv5139501,essv5134534,essv5124029,essv5012153,essv5161031,essv5056203,essv5152645,essv5140073,essv5110253,essv5070558,essv5048810,essv5039035,essv5048442,essv5102821,essv5012509,essv5136533,essv5043890,essv5066498,essv5116579,essv5095099,essv5054680,essv5074746,essv5069876,essv5054630,essv5077137,essv5065117,essv5155493,essv5113834,essv5111962,essv5049916,essv5128098,essv5031957,essv5087620,essv5150642,essv5044917,essv5052640,essv5158084,essv5107081,essv5105399,essv5142136,essv5129487,essv5099555,essv5137983,essv5149247,essv5085296,essv5024153,essv5132244,essv5148396,essv5062843,essv5038065,essv5135153,essv5126385,essv5117090,essv5062985,essv5137014,essv5019340,essv5088836,essv5013717,essv5155091,essv5018356,essv5103617,essv5063113,essv5088401,essv5058644,essv5103505,essv5121691,essv5036381,essv5134271,essv5156958,essv5113530,essv5046201,essv5130253,essv5095781,essv5145438,essv5031684,essv5103970,essv5068331,essv5069611,essv5116717,essv5042656,essv5121033,essv5087883,essv5123741,essv5021322,essv5153422,essv5096174,essv5072136,essv5122511,essv5019119,essv5104813,essv5032942,essv5087757,essv5061342,essv5036324,essv5134987,essv5159223,essv5114588,essv5145066,essv5025730,essv5031134,essv5059021,essv5081755,essv5034682,essv5012792,essv5077612,essv5053708,essv5159879,essv5138835,essv5025430,essv5095012,essv5118416,essv5013968,essv5161180,essv5155799,essv5014634,essv5116043,essv5059330,essv5054641,essv5146180,essv5020981,essv5136903,essv5055852,essv5081615,essv5029045,essv5078405,essv5007557,essv5030261,essv5009966,essv5074065,essv5126258,essv5066582,essv5063291,essv5050374,essv5115674,essv5042701,essv5041476,essv5148307,essv5047425,essv5065986,essv5048654,essv5047740,essv5144715,essv5133856,essv5051382,essv5047616,essv5076872,essv5106959,essv5040688,essv5119024,essv5134402,essv5060243,essv5083827,essv5132221,essv5039938,essv5086175,essv5072800,essv5116959,essv5081800,essv5062248,essv5041794,essv5018183,essv5079486,essv5018446,essv5088737,essv5114363,essv5128401,essv5064880,essv5106928,essv5147742,essv5081470,essv5058763,essv5028788,essv5038019,essv5067838,essv5089526,essv5074132,essv5017199,essv5041656,essv5094696,essv5053342,essv5123051,essv5127033,essv5116536,essv5114844,essv5028746,essv5096102,essv5078887,essv5038553,essv5026895,essv5016955,essv5096601,essv5081133,essv5069142,essv5089208,essv5108289,essv5087020,essv5135155,essv5007748,essv5115240,essv5119749,essv5074823,essv5006352,essv5055384,essv5066088,essv5007675,essv5109180,essv5033003,essv5038037,essv5123050,essv5085399,essv5024383,essv5093551,essv5153570,essv5024754,essv5039490,essv5150161,essv5063877,essv5148292,essv5065840,essv5112098,essv5083078,essv5098399,essv5058452,essv5039191,essv5111515,essv5032782,essv5160670,essv5113151,essv5021570,essv5023061,essv5116531,essv5026040,essv5075340,essv5115364,essv5108647,essv5104882,essv5121433,essv5042690,essv5084251,essv5116942,essv5055003,essv5014603,essv5028262,essv5065092,essv5107577,essv5065189,essv5144757,essv5062809,essv5122776,essv5104123,essv5147304,essv5103225,essv5056093,essv5144949,essv5121523,essv5130745,essv5092329,essv5160637,essv5146502,essv5039346,essv5015391,essv5058484,essv5122258,essv5094996,essv5138614,essv5120598,essv5083659,essv5010448,essv5083585,essv5037516,essv5059837,essv5031521,essv5114312,essv5017283,essv5013813,essv5072917,essv5039049,essv5029072,essv5053704,essv5077725,essv5110375,essv5036490,essv5058986,essv5058956,essv5005639,essv5142426,essv5059187,essv5158498,essv5047670 M 1184 0 894 LCE3B,LCE3C NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA06997,NA07000,NA07014,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10846,NA10847,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA12003,NA12005,NA12006,NA12044,NA12056,NA12057,NA12144,NA12145,NA12146,NA12155,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12707,NA12708,NA12716,NA12718,NA12748,NA12749,NA12750,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12843,NA12865,NA12875,NA12878,NA12891,NA17962,NA17965,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18122,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18133,NA18134,NA18135,NA18138,NA18140,NA18141,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18499,NA18500,NA18501,NA18503,NA18505,NA18507,NA18508,NA18510,NA18515,NA18516,NA18517,NA18519,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18543,NA18544,NA18545,NA18546,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18618,NA18619,NA18620,NA18621,NA18622,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18749,NA18853,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18871,NA18913,NA18914,NA18916,NA18917,NA18930,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18962,NA18963,NA18964,NA18966,NA18967,NA18969,NA18970,NA18971,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19036,NA19041,NA19044,NA19046,NA19054,NA19056,NA19060,NA19062,NA19063,NA19064,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19107,NA19108,NA19109,NA19114,NA19116,NA19117,NA19121,NA19123,NA19127,NA19128,NA19129,NA19143,NA19146,NA19149,NA19151,NA19159,NA19160,NA19161,NA19175,NA19176,NA19179,NA19182,NA19183,NA19184,NA19185,NA19189,NA19190,NA19191,NA19192,NA19200,NA19201,NA19202,NA19204,NA19207,NA19208,NA19213,NA19221,NA19222,NA19223,NA19235,NA19236,NA19238,NA19240,NA19307,NA19308,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19319,NA19321,NA19327,NA19328,NA19334,NA19347,NA19350,NA19352,NA19371,NA19372,NA19373,NA19374,NA19375,NA19377,NA19379,NA19380,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19398,NA19399,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19437,NA19439,NA19443,NA19444,NA19445,NA19448,NA19449,NA19452,NA19455,NA19457,NA19462,NA19463,NA19466,NA19467,NA19469,NA19470,NA19471,NA19474,NA19650,NA19651,NA19654,NA19657,NA19660,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19676,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19711,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19748,NA19750,NA19755,NA19756,NA19757,NA19760,NA19762,NA19770,NA19771,NA19772,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19796,NA19834,NA19836,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20129,NA20281,NA20291,NA20292,NA20295,NA20297,NA20300,NA20319,NA20332,NA20334,NA20336,NA20337,NA20340,NA20342,NA20343,NA20346,NA20349,NA20350,NA20357,NA20358,NA20364,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20538,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20809,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20858,NA20859,NA20861,NA20866,NA20870,NA20871,NA20873,NA20874,NA20875,NA20876,NA20879,NA20881,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21116,NA21117,NA21119,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21314,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21362,NA21365,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21385,NA21390,NA21402,NA21405,NA21408,NA21414,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21526,NA21527,NA21528,NA21529,NA21573,NA21575,NA21576,NA21577,NA21578,NA21580,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21631,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21733,NA21738,NA21740,NA21741,NA21784,NA21825,NA21826 dgv4n50 1 150821800 150856676 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511714,nsv511153 M 1 0 1 LCE3B,LCE3C 1 dgv76n67 1 150822121 150856810 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824675,nsv824709,nsv824686,nsv824698 M 31 0 26 LCE3B,LCE3C AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18999 nsv821155 1 150822121 150856810 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420647 S 1 0 1 LCE3B,LCE3C NA10851 nsv498689 1 150822166 150854365 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585402 S 9 0 1 LCE3B,LCE3C esv25112 1 150822234 150856715 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11748 S 451 8 10 LCE3B,LCE3C NA11993,NA11995,NA12006,NA12239,NA12287,NA12776,NA12828,NA15510,NA18505,NA18511,NA18523,NA18909,NA18916,NA19099,NA19129,NA19147,NA19225,NA19257 nsv441941 1 150822330 150853218 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LCE3B,LCE3C esv29957 1 150823073 150852905 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84196 S 3 0 1 LCE3C WATSON dgv4n14 1 150828032 150850302 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433478,nsv433467 M 9 0 2 LCE3C NA15510,NA19129 nsv469873 1 150829884 150980240 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649894 M 265 0 0 Samples from several populations that are part of the HapMap project. C1orf68,LCE2A,LCE2B,LCE2C,LCE2D,LCE3A,LCE3B,LCE3C,LCE4A nsv514007 1 150838880 150850880 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627703 S 1414 0 1 LCE3C nsv471350 1 150839832 150840115 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548046,nssv548047,nssv548044 M 3 LCE3C nsv872449 1 150850302 150909784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542098,nssv1555654,nssv1535420 M 6533 3 0 LCE2D,LCE3A,LCE3B MS12206,MS15642,MS21483 nsv8413 1 150909951 150913606 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22436 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv509480 1 150911068 150990779 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621104 S 4 1 0 C1orf68,LCE2A,LCE2B,LCE2C,LCE4A NA15510 nsv8424 1 150914861 150925581 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19441 S 31 1 0 Samples from several populations that are part of the HapMap project. LCE2B,LCE2C NA19240 nsv2899 1 150915469 150924163 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1562 S 9 1 0 LCE2C NA19240 esv23526 1 150915491 150927049 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20569 S 451 1 0 LCE2B,LCE2C NA19240 nsv441715 1 150915736 150923166 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514008 1 150916512 150922368 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627714 S 1414 1 0 "" esv34854 1 150938537 151023430 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980446,essv6980447 M 771 1 0 C1orf68,KPRP,LCE1F,LCE2A,LCE4A NA19193 nsv818478 1 150938629 151001420 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418427 S 112 1 0 C1orf68,KPRP,LCE4A NA19193 essv16576 1 150949332 151005850 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C1orf68,KPRP NA19193 nsv508615 1 150990779 151054127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618989,nssv622777 M 4 0 2 KPRP,LCE1B,LCE1C,LCE1D,LCE1E,LCE1F NA10860,NA18994 nsv79 1 151013059 151040222 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv79 S 1 0 1 LCE1D,LCE1E,LCE1F NA15510 nsv2910 1 151013059 151041038 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11089,nssv3399 M 9 0 2 LCE1D,LCE1E,LCE1F NA12878,NA15510 nsv435711 1 151025966 151039071 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465850 S 2 0 1 LCE1D,LCE1E NA15510 esv992673 1 151025995 151038732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565180 S 3 0 1 LCE1D,LCE1E HuRef nsv8436 1 151026172 151037502 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21070,nssv22764,nssv22102,nssv22099,nssv21414,nssv21771,nssv21406,nssv25724,nssv21065,nssv20736,nssv19771,nssv20081,nssv19765,nssv21397,nssv21405,nssv21417,nssv26401,nssv25709,nssv18778,nssv25174,nssv27410 M 31 20 1 Samples from several populations that are part of the HapMap project. LCE1D,LCE1E NA10847,NA10863,NA11830,NA12802,NA12872,NA18517,NA18537,NA18552,NA18564,NA18572,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2535964 1 151026210 151038065 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216224 S 1 0 1 LCE1D,LCE1E NA18507 dgv14n17 1 151026302 151040529 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437180,nsv437191 M 60 0 2 LCE1D,LCE1E NA10851,NA10855 esv2444007 1 151026489 151038611 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253712 S 1 0 1 LCE1D,LCE1E NA18507 esv24425 1 151026713 151037738 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12772 S 451 21 2 LCE1D,LCE1E NA06985,NA11931,NA11993,NA11995,NA12044,NA12239,NA12287,NA12489,NA12878,NA18505,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 dgv77n67 1 151026713 151038291 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824731,nsv824742,nsv824720 M 31 0 4 LCE1D,LCE1E AK16,AK20,AK8,NA18999 nsv820665 1 151026713 151038291 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420658 S 1 0 1 LCE1D,LCE1E NA10851 nsv498690 1 151026969 151037500 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585403 S 9 0 1 LCE1D,LCE1E dgv5n50 1 151027143 151037934 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511154,nsv511715 M 1 0 1 LCE1D,LCE1E 1 nsv514009 1 151027712 151036800 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627725 S 1414 0 1 LCE1D nsv438059 1 151027995 151036431 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469186,nssv469208,nssv469174,nssv469141,nssv469241,nssv469130,nssv469152,nssv469230,nssv469219,nssv469163,nssv469197 M 269 0 10 Samples from several populations that are part of the HapMap project. LCE1D NA07034,NA07048,NA10851,NA10855,NA10856,NA11829,NA11832,NA12057,NA19210,NA19211 esv2421553 1 151028547 151035324 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024965,essv5061389,essv5074381,essv5120587,essv5136492,essv5108858,essv5003850,essv5159946,essv5092365,essv5060002,essv5014467,essv5011049,essv5109016,essv5106559,essv5059179,essv5081826,essv5095629,essv5054500,essv5050838,essv5069257,essv5026406,essv5140815,essv5066698,essv5020265,essv5043592,essv5102684,essv5088317,essv5136018,essv5003047,essv5089394,essv5023200,essv5122831,essv5013141,essv5010452,essv5136600,essv5064333,essv5068323,essv5038943,essv5051907,essv5018688,essv5099770,essv5106731,essv5112234,essv5114847,essv5147967,essv5074492,essv5143714,essv5062083,essv5007090,essv5126261,essv5099694,essv5059670,essv5033336,essv5036664,essv5127140,essv5104513,essv5142907,essv5128506,essv5023238,essv5125841,essv5134650,essv5086812,essv5104694,essv5084174,essv5048919,essv5122095,essv5126384,essv5083992,essv5077109,essv5030788,essv5136491,essv5009147,essv5143556,essv5091282,essv5104516,essv5081914,essv5084955,essv5035724,essv5160824,essv5126917,essv5136918,essv5097375,essv5038922,essv5047267,essv5016638,essv5045857,essv5022560,essv5103788,essv5139180,essv5033890,essv5076398,essv5035449,essv5024680,essv5026106,essv5041885,essv5029721,essv5152274,essv5044797,essv5053839,essv5044598,essv5130878,essv5067358,essv5092070,essv5099657,essv5126425,essv5097372,essv5154695,essv5108488,essv5118410,essv5003398,essv5044180,essv5045087,essv5050891,essv5061415,essv5017486,essv5116910,essv5002357,essv5140211,essv5135117,essv5025625,essv5070435,essv5014657,essv5087856,essv5034764,essv5093241,essv5006249,essv5119667,essv5041473,essv5016999,essv5107663,essv5097272,essv5142621,essv5045782,essv5014142,essv5129979,essv5124792,essv5160484,essv5089381,essv5112192,essv5048167,essv5093354,essv5022016,essv5090888,essv5093598,essv5085694,essv5056374,essv5134565,essv5135453,essv5017403,essv5100323,essv5139806,essv5108962,essv5088888,essv5084979,essv5143739,essv5111825,essv5115952,essv5150646,essv5004620,essv5085832,essv5076971,essv5157803,essv5144675,essv5098734,essv5080874,essv5080912,essv5002690,essv5104265,essv5155875,essv5071669,essv5062713,essv5104058,essv5027348,essv5058158,essv5102681,essv5036748,essv5123742,essv5076457,essv5054543,essv5054720,essv5053954,essv5049213,essv5151606,essv5008569,essv5022353,essv5124525,essv5041950,essv5108732,essv5103585,essv5064023,essv5074359,essv5030010,essv5143369,essv5088387,essv5098616,essv5152929,essv5047834,essv5070562,essv5105224,essv5103297,essv5046173,essv5034823,essv5099490,essv5084305,essv5060080,essv5039218,essv5039549,essv5161195,essv5151097,essv5142685,essv5051191,essv5035157,essv5131754,essv5010665,essv5123404,essv5034745,essv5134061,essv5067524,essv5061264,essv5052531,essv5066829,essv5063046,essv5036814,essv5067530,essv5139375,essv5029125,essv5019324,essv5089461,essv5147777,essv5151629,essv5092743,essv5137364,essv5044629,essv5021414,essv5117143,essv5003117,essv5113845,essv5122064,essv5043800,essv5060364,essv5011709,essv5066404,essv5154112,essv5096146,essv5117533,essv5041451,essv5153480,essv5067606,essv5053658,essv5094493,essv5009395,essv5123225,essv5106064,essv5063276,essv5043090,essv5124494,essv5085422,essv5129107,essv5104260,essv5073126,essv5144842,essv5006222,essv5028137,essv5038758,essv5123700,essv5068931,essv5112975,essv5086625,essv5080147,essv5091896,essv5149948,essv5005204,essv5101381,essv5038962,essv5014007,essv5016324,essv5151283,essv5123125,essv5062267,essv5123716,essv5058390,essv5013623,essv5134380,essv5031111,essv5089933,essv5053102,essv5131711,essv5142519,essv5156484,essv5060361,essv5084346,essv5130648,essv5110493,essv5080565,essv5039605,essv5143770,essv5024058,essv5159451,essv5016414,essv5044387,essv5149328,essv5105618,essv5117983,essv5150658,essv5151136,essv5002336,essv5030889,essv5122148,essv5088615,essv5072398,essv5102824,essv5052655,essv5025018,essv5016910,essv5134887,essv5011160,essv5065565,essv5043903,essv5100194,essv5138186,essv5161055,essv5143095,essv5054254,essv5001935,essv5090429,essv5125316,essv5008720,essv5114311,essv5148438,essv5040644,essv5080414,essv5020945,essv5043675,essv5083913,essv5058870,essv5037271,essv5126603,essv5129069,essv5042557,essv5047679,essv5032516,essv5137502,essv5060239,essv5082063,essv5035411,essv5155397,essv5134025,essv5037585,essv5095074,essv5034219,essv5072685,essv5088605,essv5111553,essv5152193,essv5021266,essv5121722,essv5065633,essv5003408,essv5052031,essv5111404,essv5106234,essv5062522,essv5092451,essv5076197,essv5043246,essv5128197,essv5159424,essv5041348,essv5100531,essv5014419,essv5057051,essv5068447,essv5030277,essv5143028,essv5017105,essv5019248,essv5132625,essv5087228,essv5131270,essv5154328,essv5118115,essv5011272,essv5051753,essv5144222,essv5050232,essv5063264,essv5085782,essv5096932,essv5104557,essv5046705,essv5076535,essv5079616,essv5017832,essv5078767,essv5006175,essv5084116,essv5103307,essv5160409,essv5125808,essv5006843,essv5155951,essv5060630,essv5013066,essv5104226,essv5021641,essv5028930,essv5121599,essv5047439,essv5003993,essv5082182,essv5138170,essv5118984,essv5040026,essv5050085,essv5120368,essv5062678,essv5106347,essv5012982,essv5149785,essv5007910,essv5137920,essv5046183,essv5043474,essv5003804,essv5067884 M 1184 0 425 "" NA06984,NA06986,NA06989,NA06995,NA06997,NA07000,NA07029,NA07037,NA07045,NA07051,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA10831,NA10836,NA10837,NA10839,NA10840,NA10853,NA10855,NA10856,NA10861,NA10865,NA11829,NA11831,NA11832,NA11843,NA11891,NA11892,NA11894,NA11918,NA11919,NA11930,NA11993,NA11994,NA12003,NA12006,NA12056,NA12057,NA12144,NA12155,NA12234,NA12248,NA12249,NA12264,NA12273,NA12275,NA12282,NA12286,NA12341,NA12343,NA12344,NA12348,NA12375,NA12383,NA12386,NA12399,NA12400,NA12708,NA12716,NA12718,NA12740,NA12749,NA12750,NA12752,NA12761,NA12762,NA12766,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12830,NA12832,NA12843,NA12878,NA12891,NA12892,NA18109,NA18138,NA18486,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18518,NA18519,NA18563,NA18605,NA18620,NA18621,NA18638,NA18853,NA18861,NA18862,NA18863,NA18868,NA18869,NA18871,NA18874,NA18875,NA18910,NA18911,NA18912,NA18916,NA18924,NA18930,NA18933,NA18935,NA18945,NA18954,NA18966,NA18974,NA18991,NA18994,NA18998,NA19035,NA19046,NA19078,NA19095,NA19097,NA19102,NA19103,NA19107,NA19109,NA19118,NA19130,NA19140,NA19149,NA19153,NA19160,NA19161,NA19174,NA19175,NA19176,NA19184,NA19185,NA19186,NA19190,NA19191,NA19200,NA19202,NA19204,NA19210,NA19211,NA19235,NA19236,NA19237,NA19317,NA19318,NA19319,NA19321,NA19347,NA19352,NA19360,NA19372,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19384,NA19385,NA19390,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19430,NA19435,NA19437,NA19440,NA19445,NA19446,NA19451,NA19457,NA19462,NA19469,NA19472,NA19473,NA19651,NA19653,NA19664,NA19665,NA19675,NA19678,NA19681,NA19682,NA19683,NA19684,NA19708,NA19713,NA19714,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19749,NA19750,NA19759,NA19760,NA19761,NA19770,NA19772,NA19773,NA19776,NA19778,NA19779,NA19780,NA19789,NA19790,NA19819,NA19828,NA19834,NA19836,NA19901,NA19902,NA19904,NA19909,NA19914,NA19915,NA19917,NA19918,NA19919,NA19982,NA19983,NA19985,NA20126,NA20128,NA20129,NA20277,NA20279,NA20288,NA20295,NA20297,NA20317,NA20332,NA20333,NA20334,NA20342,NA20344,NA20345,NA20346,NA20357,NA20360,NA20364,NA20504,NA20505,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20529,NA20530,NA20531,NA20534,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20755,NA20756,NA20758,NA20759,NA20761,NA20769,NA20771,NA20773,NA20774,NA20783,NA20785,NA20787,NA20792,NA20795,NA20797,NA20799,NA20800,NA20804,NA20805,NA20808,NA20810,NA20811,NA20812,NA20813,NA20818,NA20826,NA20828,NA20845,NA20853,NA20854,NA20858,NA20859,NA20875,NA20881,NA20884,NA20885,NA20888,NA20889,NA20890,NA20891,NA20899,NA20900,NA20901,NA20902,NA20904,NA20906,NA20907,NA20911,NA21089,NA21090,NA21092,NA21094,NA21097,NA21098,NA21099,NA21104,NA21105,NA21107,NA21108,NA21112,NA21116,NA21117,NA21119,NA21123,NA21125,NA21137,NA21143,NA21303,NA21307,NA21308,NA21309,NA21317,NA21318,NA21333,NA21339,NA21355,NA21356,NA21360,NA21361,NA21365,NA21366,NA21371,NA21378,NA21379,NA21384,NA21386,NA21387,NA21388,NA21389,NA21391,NA21400,NA21401,NA21421,NA21424,NA21435,NA21436,NA21441,NA21453,NA21455,NA21457,NA21473,NA21478,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21519,NA21523,NA21524,NA21525,NA21528,NA21580,NA21596,NA21599,NA21613,NA21620,NA21631,NA21632,NA21650,NA21683,NA21722,NA21739,NA21741,NA21768,NA21776,NA21784,NA21825 nsv441973 1 151028547 151035324 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv433489 1 151030580 151033105 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463370 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv78n67 1 151032740 151033260 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824764,nsv824753 M 31 2 0 "" NA18969,NA18997 nsv471351 1 151035851 151037281 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548048,nssv548049 M 3 LCE1D nsv831592 1 151081678 151263786 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450651 S 95 1 0 IVL,LCE6A,SMCP,SPRR1A,SPRR3,SPRR4 esv269721 1 151089650 151089985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513965,essv2518862,essv2518359 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19239,NA19240 esv272600 1 151089661 151089984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584714,essv2583619 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv7910 1 151119979 151120077 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30351 S 1 1 0 SMCP SJK esv29281 1 151150299 151151192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20251 S 451 0 1 IVL NA18523 nsv508038 1 151223112 151229112 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618509,nssv621479,nssv622296 M 4 0 3 SPRR1A CHM,NA10860,NA15510 nsv464017 1 151300030 151365969 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540020 S 1557 0 1 SPRR2B,SPRR2E,SPRR2F 1780854279_A esv2523588 1 151302842 151304385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327283 S 1 0 1 "" NA18507 esv22397 1 151335819 151354587 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18497 S 451 1 0 SPRR2F NA19190 nsv2921 1 151377548 151402958 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4685 S 9 1 0 SPRR2C,SPRR2G NA19129 esv1301777 1 151400332 151400589 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062924 S 2 0 1 "" HuRef esv27045 1 151401490 151402724 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10507 S 451 0 2 "" NA12287,NA19147 nsv2932 1 151412065 151445637 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3410 S 9 1 0 LELP1 NA12878 esv2620109 1 151481990 151483818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205911 S 1 0 1 "" NA18507 esv23954 1 151482194 151484329 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12935,esv14097 M 451 3 0 "" NA06985,NA12044,NA19108 esv1759689 1 151482682 151483058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666004 S 2 0 1 "" HuRef esv259827 1 151483915 151485111 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397662,essv2397755,essv2400974,essv2397254 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18956,NA19099,NA19225 esv1530810 1 151495867 151495867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749303 S 2 1 0 "" HuRef esv6733 1 151551972 151587863 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29174 S 1 0 1 PGLYRP4 SJK nsv525937 1 151565998 151573391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702143 S 2026 1 0 PGLYRP4 nsv7184 1 151569690 151607803 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10269 S 9 0 0 PGLYRP4,S100A9 NA18956 nsv831603 1 151672466 151842767 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450662 S 95 1 0 S100A2,S100A3,S100A4,S100A5,S100A6,S100A7,S100A7L2 esv33204 1 151677134 151685619 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99764 S 51 1 0 S100A7L2 22086 nsv464028 1 151888844 151989661 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540027 S 1557 1 0 ILF2,INTS3,NPR1,SNAPIN 1780862424_A esv23717 1 151938268 151961933 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16517 S 451 6 0 "" NA06985,NA11995,NA18517,NA18861,NA18916,NA19129 esv260040 1 151939742 151960589 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396769,essv2398507,essv2399955,essv2400071 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11894,NA12156,NA18861 nsv441716 1 151940298 151959872 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514010 1 151941264 151957328 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627737 S 1414 1 0 "" nsv2943 1 151954284 151960688 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4696 S 9 1 0 "" NA19129 nsv515962 1 152018763 152040053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692910,nssv655021,nssv654683,nssv661377,nssv690230,nssv665486,nssv689445,nssv686798,nssv700310,nssv661360,nssv660164,nssv670770,nssv661817 M 2026 0 13 SLC27A3 nsv872450 1 152155666 152204137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509760 S 6533 0 1 CRTC2,DENND4B,GATAD2B,SLC39A1 SP54956 nsv520398 1 152334820 152408532 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676401,nssv663691,nssv706092 M 2026 2 1 NUP210L,TPM3 esv2586978 1 152347103 152352171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305380 S 1 0 1 NUP210L NA18507 esv2063006 1 152347385 152351482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690201 S 1 0 1 NUP210L NA18507 esv2648729 1 152348653 152353542 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336500 S 1 0 1 NUP210L NA18507 nsv872451 1 152368143 152406381 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515447 S 6533 1 0 NUP210L,TPM3 SP56197 esv274351 1 152390355 152390488 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579290,essv2579456 M 7 2 0 Samples from several populations that are part of the HapMap project. NUP210L NA19239,NA19240 esv267891 1 152390360 152390445 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513925,essv2515233,essv2518432 M 157 3 0 Samples from several populations that are part of the HapMap project. NUP210L NA19143,NA19238,NA19240 esv29020 1 152424866 152427926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12863 S 451 0 4 TPM3 NA18502,NA18523,NA18907,NA19099 nsv2954 1 152434336 152469445 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1572 S 9 1 0 C1orf189,C1orf43,UBAP2L NA19240 nsv521887 1 152503194 152950730 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694658 S 2026 1 0 ADAR,AQP10,ATP8B2,CHRNB2,HAX1,IL6R,KCNN3,SHE,TDRD10,UBAP2L,UBE2Q1 nsv523934 1 152562700 152574254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699780 S 2026 0 1 AQP10,ATP8B2 esv1713770 1 152619054 152619133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717441 S 2 0 1 "" HuRef esv23279 1 152740772 152741717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19920 S 451 0 1 SHE,TDRD10 NA12489 nsv506960 1 152770007 152776007 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617541 S 4 1 0 TDRD10 CHM nsv160554 1 152777660 152779607 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179132 M 24 TDRD10 nsv470740 1 152835307 153063519 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547780 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAR,KCNN3 HGDP01370 nsv464050 1 152835307 153067871 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540042 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAR,KCNN3 HGDP01370 esv32568 1 152855287 152857235 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99140,essv99372 M 51 0 2 ADAR 22275,22335 esv33703 1 152859979 152860554 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99928 S 51 0 1 ADAR 22086 esv33112 1 152862476 152863431 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100710,essv98223 M 51 2 0 ADAR 21656,21772 nsv464062 1 152897122 152935918 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540051 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00637 nsv522177 1 152928827 152935918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694950 S 2026 0 1 "" nsv509491 1 152931739 152958409 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623795 S 4 1 0 KCNN3 NA18994 esv2574257 1 152968190 152968198 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305246 S 1 1 0 KCNN3 NA18507 esv1554680 1 152994603 152994603 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820773 S 2 1 0 KCNN3 HuRef nsv872452 1 153017613 153036185 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584073 S 6533 1 0 KCNN3 IS36798 esv275470 1 153027219 153027733 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585231,essv2585581 M 1250 1 1 KCNN3 esv29982 1 153084977 153149168 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84221 S 2 1 0 KCNN3 HuRef nsv2966 1 153099220 153132221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7076 S 9 1 0 KCNN3 NA12156 nsv464073 1 153104420 153171464 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540061 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNN3,PMVK HGDP00857 nsv509502 1 153143507 153381391 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623798,nssv623796,nssv619815 M 4 2 0 ADAM15,CKS1B,DCST1,DCST2,DPM3,EFNA1,EFNA3,EFNA4,FLAD1,LENEP,LOC100505666,MIR4258,PBXIP1,PMVK,PYGO2,SHC1,SLC50A1,ZBTB7B NA10860,NA18994 nsv2977 1 153147677 153174237 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7688 S 9 0 1 PMVK NA12156 nsv872453 1 153171464 153262127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546464 S 6533 0 1 CKS1B,DCST2,FLAD1,LENEP,MIR4258,PBXIP1,PMVK,PYGO2,SHC1,ZBTB7B MS17208 nsv872454 1 153171464 153346101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530435,nssv1592108 M 6533 0 2 ADAM15,CKS1B,DCST1,DCST2,EFNA3,EFNA4,FLAD1,LENEP,LOC100505666,MIR4258,PBXIP1,PMVK,PYGO2,SHC1,ZBTB7B IS39233,MS10311 nsv824775 1 153256498 153256958 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431844 S 31 0 1 ZBTB7B AK20 nsv872455 1 153270578 153373174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537048 S 6533 0 1 ADAM15,DCST1,DCST2,EFNA1,EFNA3,EFNA4,LOC100505666 MS13095 nsv524157 1 153293566 153297181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700036 S 2026 0 1 ADAM15,LOC100505666 nsv872456 1 153295316 153302235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499227 S 6533 0 1 ADAM15,LOC100505666 SP50159 nsv464084 1 153348922 153461604 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540072 S 1557 0 1 DPM3,EFNA1,GBAP1,KRTCAP2,MIR92B,MTX1,MUC1,SLC50A1,THBS3,TRIM46 1798860443_A dgv3n68 1 153361602 153580033 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831625,nsv831614 M 95 0 8 ASH1L,CLK2,DPM3,EFNA1,FAM189B,FDPS,GBA,GBAP1,HCN3,KRTCAP2,MIR92B,MTX1,MUC1,PKLR,RUSC1,RUSC1-AS1,SCAMP3,SLC50A1,THBS3,TRIM46 dgv132e1 1 153361602 153581431 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9229,essv10088,essv15107,essv11564,esv173,essv17210 M 271 0 0 ASH1L,CLK2,DPM3,EFNA1,FAM189B,FDPS,GBA,GBAP1,HCN3,KRTCAP2,MIR92B,MTX1,MUC1,PKLR,RUSC1,RUSC1-AS1,SCAMP3,SLC50A1,THBS3,TRIM46 NA19128,NA19129,NA19130,NA19171,NA19173 nsv470741 1 153381884 153496755 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547781 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM189B,GBA,GBAP1,KRTCAP2,MIR92B,MTX1,MUC1,SCAMP3,THBS3,TRIM46 HGDP01412 nsv872457 1 153401959 153577067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546465 S 6533 0 1 ASH1L,CLK2,FAM189B,FDPS,GBA,GBAP1,HCN3,KRTCAP2,MIR92B,MTX1,MUC1,PKLR,RUSC1,RUSC1-AS1,SCAMP3,THBS3,TRIM46 MS17208 nsv8447 1 153411253 153423561 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26574 S 31 1 0 Samples from several populations that are part of the HapMap project. KRTCAP2,TRIM46 NA19221 nsv872458 1 153412726 153447090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510653 S 6533 0 1 MIR92B,MTX1,MUC1,THBS3,TRIM46 SP54988 dgv390n71 1 153416342 153438801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872459,nsv872462,nsv872461 M 6533 0 5 MIR92B,MUC1,THBS3,TRIM46 SP51109,SP54043,SP54593,SP55019,SP55021 nsv527682 1 153416342 153464086 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704158 S 2026 1 0 GBAP1,MIR92B,MTX1,MUC1,THBS3,TRIM46 nsv872460 1 153418117 153429805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505847 S 6533 0 1 MUC1,TRIM46 SP54042 nsv2988 1 153421230 153456116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1582,nssv4704 M 9 2 0 GBAP1,MIR92B,MTX1,MUC1,THBS3,TRIM46 NA19129,NA19240 dgv391n71 1 153422355 153436257 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872465,nsv872463 M 6533 0 3 MIR92B,MUC1,THBS3,TRIM46 SP54225,SP54725,SP54956 nsv872464 1 153424477 153429805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511726 S 6533 0 1 MUC1 SP55056 esv1005636 1 153426611 153430007 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563924 S 3 1 0 MUC1 HuRef esv23811 1 153427195 153428306 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13162,esv20591 M 451 5 2 MUC1 NA12044,NA12414,NA12776,NA12878,NA15510,NA18505,NA18909 nsv8458 1 153446755 153451033 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25969 S 31 1 0 Samples from several populations that are part of the HapMap project. GBAP1,MTX1 NA19173 esv28935 1 153447113 153487867 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13606 S 451 2 0 FAM189B,GBA,GBAP1,MTX1 NA19129,NA19190 nsv8469 1 153450569 153471196 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26194 S 31 1 0 Samples from several populations that are part of the HapMap project. GBA,GBAP1 NA19173 esv2421617 1 153452575 153472791 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156016,essv5070801,essv5090880,essv5016282,essv5079338,essv5124849,essv5152306,essv5114495,essv5022166,essv5009170,essv5062905,essv5128072,essv5074777,essv5012914,essv5059193,essv5110237,essv5034857,essv5109448,essv5005883,essv5152699,essv5147282,essv5041397,essv5131995,essv5090643,essv5114581,essv5072179,essv5052990,essv5101165,essv5011822,essv5147657,essv5006204,essv5100941,essv5100134,essv5122155,essv5111214,essv5078186,essv5063267,essv5084444,essv5038333,essv5154422,essv5092327,essv5135407,essv5044586,essv5139809,essv5146336,essv5115026,essv5061169 M 1184 47 0 GBA,GBAP1 NA18510,NA18917,NA19031,NA19102,NA19103,NA19107,NA19109,NA19128,NA19129,NA19130,NA19171,NA19172,NA19173,NA19176,NA19190,NA19191,NA19215,NA19235,NA19313,NA19317,NA19318,NA19332,NA19334,NA19393,NA19428,NA19436,NA19679,NA19711,NA19714,NA19834,NA19909,NA19917,NA20348,NA20756,NA21295,NA21317,NA21333,NA21371,NA21475,NA21479,NA21489,NA21513,NA21517,NA21608,NA21615,NA21685,NA21768 nsv436038 1 153453996 153471173 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465852 S 2 1 0 GBA,GBAP1 NA15510 nsv514011 1 153455760 153463744 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627748 S 1414 1 0 GBAP1 nsv441717 1 153455784 153467684 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GBAP1 nsv516159 1 153461604 153464086 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666542,nssv671763 M 2026 2 0 GBAP1 nsv2999 1 153468579 153471710 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4714 S 9 1 0 GBA NA19129 nsv8480 1 153472959 153481160 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26400 S 31 1 0 Samples from several populations that are part of the HapMap project. GBA NA19173 nsv831636 1 153485847 153711488 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450773,nssv1450762 M 95 0 2 ASH1L,CLK2,FAM189B,FDPS,HCN3,MIR555,PKLR,POU5F1P4,RUSC1,RUSC1-AS1,SCAMP3 esv33869 1 153489907 154184585 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98848,essv97456,essv101189,essv93940,essv100639,essv101068,essv95181,essv98314,essv98227,essv94841,essv94044,essv101285,essv97832,essv95733,essv95416,essv93009,essv95304,essv97450,essv101627,essv95865,essv94598,essv99061,essv92843,essv92675,essv96139,essv96651,essv97197,essv99966,essv95989,essv93442,essv93312,essv94986,essv92508,essv96490,essv99159,essv97768,essv100260,essv100553,essv98404 M 51 0 38 ARHGEF2,ASH1L,CLK2,DAP3,FAM189B,FDPS,GON4L,HCN3,KIAA0907,LOC645676,MIR555,MSTO1,MSTO2P,PKLR,POU5F1P4,RIT1,RUSC1,RUSC1-AS1,RXFP4,SCAMP3,SCARNA4,SNORA42,SYT11,YY1AP1 21606,21616,21618,21634,21656,21693,21721,21772,21791,21802,21805,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,22007,22011,22075,22086,22127,22128,22170,22231,22233,22261,22275,22278,22286,22298,22352 esv23319 1 153493683 153529298 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17013 S 451 1 0 CLK2,HCN3,PKLR,SCAMP3 NA15510 nsv436027 1 153497176 153527947 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465853 S 2 1 0 CLK2,HCN3,PKLR,SCAMP3 NA15510 nsv3010 1 153502429 153508303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11108 S 9 1 0 CLK2 NA15510 nsv90 1 153502429 153508303 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv90 S 1 1 0 CLK2 NA15510 nsv101 1 153511518 153514946 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv101 S 1 1 0 HCN3 NA15510 nsv3021 1 153511518 153514946 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11114 S 9 1 0 HCN3 NA15510 nsv3032 1 153522034 153554600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2561 S 9 1 0 FDPS,HCN3,PKLR NA18555 nsv872466 1 153525649 153536615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499284 S 6533 0 1 HCN3,PKLR SP50066 nsv872467 1 153612265 153643795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514675 S 6533 0 1 ASH1L SP56047 nsv872468 1 153679928 153816186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514676 S 6533 0 1 ASH1L,LOC645676 SP56047 esv2476624 1 153704665 153706183 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372813 S 1 0 1 ASH1L NA18507 nsv428246 1 153824821 154052455 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451920 S 62 1 0 DAP3,GON4L,MSTO1,MSTO2P,YY1AP1 HGDP00474 nsv436522 1 153826137 153940873 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465854 S 2 0 1 Samples from several populations that are part of the HapMap project. DAP3,MSTO1,YY1AP1 NA18505 nsv3043 1 153840678 153875198 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1591 S 9 0 1 MSTO1 NA19240 nsv482134 1 153846631 153851381 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558495 S 1 1 0 MSTO1 KB1 nsv3054 1 153920459 153940133 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4721,nssv1601 M 9 0 2 DAP3,YY1AP1 NA19129,NA19240 esv28903 1 153926378 153931106 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15603 S 451 0 15 DAP3 NA18502,NA18505,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv514012 1 153926400 153930832 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627759 S 1414 0 1 DAP3 esv2421343 1 153927851 153929981 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5113213,essv5097753,essv5012389,essv5126366,essv5023861,essv5122396,essv5045809,essv5134323,essv5047016,essv5088537,essv5124567,essv5103556,essv5021450,essv5006897,essv5093226,essv5084914,essv5082617,essv5048207,essv5100345,essv5102965,essv5128353,essv5048311,essv5146509,essv5135663,essv5023075,essv5102495,essv5122103,essv5007823,essv5051973,essv5143029,essv5113159,essv5097846,essv5148636,essv5116477,essv5134992,essv5152390,essv5097650,essv5099283,essv5099567,essv5049065,essv5078611,essv5078579,essv5052738,essv5014964,essv5055875,essv5048620,essv5158490,essv5073759,essv5150677,essv5119784,essv5054541,essv5101322,essv5036802,essv5129035,essv5155105,essv5118668,essv5135409,essv5138258,essv5063803,essv5142766,essv5031185,essv5133468,essv5054894,essv5106220,essv5150822,essv5077794,essv5042233,essv5157524,essv5013617,essv5072161,essv5055664,essv5036905,essv5018288,essv5136124,essv5091706,essv5136557,essv5132713,essv5128268,essv5102754,essv5029778,essv5041981,essv5142449,essv5044724,essv5099539,essv5075366,essv5083089,essv5023768,essv5027057,essv5150799,essv5114962,essv5090489,essv5137543,essv5082415,essv5049505,essv5019850,essv5101500,essv5027102,essv5056251,essv5027006,essv5160422,essv5154711,essv5034896,essv5024587,essv5006255,essv5105091,essv5014072,essv5077919,essv5037022,essv5091260,essv5018518,essv5127173,essv5060818,essv5024710,essv5033080,essv5087272,essv5063867,essv5106271,essv5131505,essv5156969,essv5059642,essv5017798,essv5093527,essv5017745,essv5095500,essv5127740,essv5011252,essv5017329,essv5136117,essv5007232,essv5075791,essv5067529,essv5027712,essv5143190,essv5126431,essv5110190,essv5032140,essv5061844,essv5143374,essv5085742,essv5004683,essv5043029,essv5083199,essv5071511,essv5152149,essv5062015,essv5144518,essv5024662,essv5145623,essv5026670,essv5049473,essv5116376,essv5007355,essv5126242,essv5156617,essv5143287,essv5045049,essv5042931,essv5141720,essv5107446,essv5049051,essv5104683,essv5065503,essv5096164,essv5066818,essv5124507,essv5073563,essv5088082,essv5107767,essv5054798,essv5070870,essv5050767,essv5065081,essv5111481,essv5094777,essv5066499,essv5131337,essv5043403,essv5046750,essv5117018,essv5005348,essv5134912,essv5072654,essv5030416,essv5122935,essv5070156,essv5158139,essv5022809,essv5131936,essv5004800,essv5024735,essv5105118,essv5125861,essv5097012,essv5110917,essv5007241,essv5025377,essv5013747,essv5025478,essv5158985,essv5153386,essv5072794,essv5095383,essv5070401,essv5071212,essv5008550,essv5046959,essv5141616,essv5048478,essv5142925,essv5083923,essv5080178,essv5010259,essv5116954,essv5086494,essv5093269,essv5121557,essv5042828,essv5108216,essv5002645,essv5004797,essv5089693,essv5083082,essv5042179,essv5085644,essv5080675,essv5130135,essv5046503,essv5033745,essv5116939,essv5147931,essv5023471,essv5057601,essv5149617,essv5065054,essv5047393,essv5046152,essv5085340,essv5035325,essv5011327,essv5086750,essv5039636,essv5079525,essv5005968,essv5074918,essv5137651,essv5079567,essv5114660,essv5134072,essv5073038,essv5046946,essv5027784,essv5007777,essv5104218,essv5121457,essv5135169,essv5015160,essv5102763,essv5033033,essv5018280,essv5082359,essv5067065,essv5058802,essv5138128,essv5103532,essv5120323,essv5103607,essv5054383,essv5100614,essv5144270,essv5010550,essv5133700,essv5013868,essv5027627,essv5001942,essv5076680,essv5050307,essv5034135,essv5016549,essv5138331,essv5110164,essv5114550,essv5056589,essv5103905,essv5004280,essv5150703,essv5055515,essv5076304,essv5148459,essv5081132,essv5154168,essv5050509,essv5107818,essv5059751,essv5147126,essv5038257,essv5091145,essv5140907,essv5007917,essv5083104,essv5119892,essv5092814 M 1184 0 301 DAP3 NA12873,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18509,NA18516,NA18517,NA18518,NA18519,NA18520,NA18613,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18914,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA19031,NA19035,NA19036,NA19038,NA19041,NA19046,NA19096,NA19098,NA19099,NA19102,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19174,NA19175,NA19178,NA19179,NA19180,NA19181,NA19182,NA19184,NA19186,NA19190,NA19191,NA19192,NA19193,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19214,NA19215,NA19223,NA19226,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19257,NA19307,NA19308,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19321,NA19324,NA19334,NA19346,NA19347,NA19352,NA19360,NA19373,NA19374,NA19376,NA19382,NA19383,NA19390,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19444,NA19446,NA19448,NA19449,NA19452,NA19456,NA19457,NA19462,NA19466,NA19471,NA19472,NA19473,NA19474,NA19625,NA19700,NA19703,NA19705,NA19712,NA19756,NA19759,NA19760,NA19835,NA19900,NA19904,NA19916,NA19917,NA19918,NA19921,NA19982,NA19983,NA19985,NA20126,NA20128,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20317,NA20319,NA20322,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA21297,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21320,NA21352,NA21353,NA21359,NA21361,NA21368,NA21370,NA21379,NA21387,NA21389,NA21423,NA21424,NA21425,NA21436,NA21448,NA21451,NA21454,NA21473,NA21475,NA21477,NA21478,NA21488,NA21491,NA21494,NA21509,NA21525,NA21529,NA21574,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21600,NA21616,NA21617,NA21620,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21682,NA21689,NA21716,NA21717,NA21718,NA21740,NA21825 nsv442072 1 153927851 153929981 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DAP3 nsv3065 1 153949392 153994148 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7695 S 9 0 1 DAP3,GON4L,MSTO2P NA12156 nsv872469 1 154009934 154076917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514677 S 6533 0 1 GON4L SP56047 nsv521958 1 154084412 154086281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694727 S 2026 0 1 GON4L nsv509513 1 154168737 154415205 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623799,nssv623800 M 4 1 0 ARHGEF2,KIAA0907,LAMTOR2,LMNA,MEX3A,RAB25,RXFP4,SEMA4A,SSR2,UBQLN4 NA18994 esv1724383 1 154241035 154241035 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088708 S 2 1 0 "" HuRef dgv79n67 1 154309887 154310949 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824809,nsv824820,nsv824797,nsv824786 M 31 4 0 MEX3A NA18564,NA18969,NA18997,NA18999 nsv824831 1 154317117 154320498 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432363 S 31 1 0 MEX3A NA18972 nsv509524 1 154474689 154544852 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623801 S 4 1 0 BGLAP,C1orf85,PAQR6,PMF1,PMF1-BGLAP,SMG5,TMEM79,VHLL NA18994 nsv872470 1 154477181 154490447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500588 S 6533 0 1 BGLAP,PAQR6,PMF1-BGLAP,SMG5 SP50159 nsv872471 1 154553984 154623104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585793 S 6533 0 1 C1orf182,CCT3,RHBG IS37646 esv1449360 1 154564461 154564461 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823298 S 2 1 0 CCT3 HuRef nsv470742 1 154601735 154620991 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547782 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RHBG HGDP00697 nsv824842 1 154672305 154673322 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440838 S 31 1 0 "" NA18969 nsv3077 1 154777358 154796655 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7086,nssv4730 M 9 0 2 IQGAP3 NA12156,NA19129 nsv436331 1 154792346 154795797 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465855 S 2 0 1 Samples from several populations that are part of the HapMap project. IQGAP3 NA18505 esv2506598 1 154792518 154795980 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289905 S 1 0 1 IQGAP3 NA18507 esv994163 1 154792952 154796564 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564856 S 3 0 1 IQGAP3 HuRef nsv511716 1 154793044 154795559 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626358 S 1 0 1 IQGAP3 1 esv2384844 1 154793140 154795767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968609 S 1 0 1 IQGAP3 NA18507 esv2824 1 154793297 154795636 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25265 S 1 0 1 Single Asian sample YH IQGAP3 YH esv1007783 1 154793341 154795571 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568604 S 3 0 1 IQGAP3 HuRef esv1268515 1 154793347 154795578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340554 S 2 0 1 IQGAP3 HuRef esv8068 1 154793353 154795556 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30509 S 1 0 1 IQGAP3 SJK nsv523181 1 154816878 154943177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698894 S 2026 0 1 APOA1BP,BCAN,CRABP2,GPATCH4,HAPLN2,NES,TTC24 nsv872472 1 154822443 154834120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509762 S 6533 0 1 APOA1BP,GPATCH4,TTC24 SP54956 esv272218 1 154822853 154823826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578884 S 7 1 0 Samples from several populations that are part of the HapMap project. TTC24 NA19239 nsv872473 1 154856074 154916647 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543365 S 6533 0 1 BCAN,HAPLN2,NES MS16153 nsv824853 1 154861219 154861705 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428053 S 31 1 0 HAPLN2 AK10 nsv521401 1 154861280 154881818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694442 S 2026 0 1 BCAN,HAPLN2 nsv824864 1 154861406 154862285 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425528 S 31 1 0 HAPLN2 AK4 nsv521552 1 154880141 154881818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698167 S 2026 0 1 BCAN nsv831648 1 154930501 155148542 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450784,nssv1450795 M 95 0 2 CRABP2,HDGF,INSRR,ISG20L2,MRPL24,NTRK1,PEAR1,PRCC,RRNAD1,SH2D2A nsv3088 1 154947248 154957676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7706 S 9 1 0 "" NA12156 esv2495964 1 154971378 154972285 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208474 S 1 1 0 RRNAD1 NA18507 esv1475923 1 154971972 154971972 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210198 S 2 1 0 RRNAD1 HuRef nsv819403 1 154978334 154978701 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418920 S 2 0 1 HDGF AK1 nsv819859 1 154996956 155003668 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419789 S 2 0 1 "" AK1 nsv831659 1 155007575 155216620 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450806 S 95 0 1 ARHGEF11,INSRR,LRRC71,MIR765,NTRK1,PEAR1,PRCC,SH2D2A esv1010343 1 155058693 155061523 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563618 S 3 0 1 NTRK1 HuRef esv1001917 1 155073157 155073208 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573233 S 3 0 1 NTRK1 HuRef esv1637866 1 155073173 155073225 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046734 S 2 0 1 NTRK1 HuRef nsv3099 1 155178084 155198495 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1611 S 9 1 0 ARHGEF11 NA19240 nsv3110 1 155213743 155257846 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3146,nssv3417 M 9 2 0 ARHGEF11 NA12878,NA18555 esv275359 1 155222838 155250663 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585141,essv2585495 M 1250 1 1 ARHGEF11 nsv3121 1 155353348 155365458 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7715 S 9 0 1 CYCSP52,ETV3 NA12156 esv22461 1 155440279 155443057 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11153 S 451 0 3 "" NA11931,NA12776,NA15510 esv5440 1 155440468 155442019 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27881 S 1 0 1 "" SJK dgv80n67 1 155440509 155442036 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824908,nsv824897,nsv824886,nsv824875 M 31 0 17 "" AK10,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18547,NA18564,NA18566,NA18582,NA18592,NA18969,NA18973,NA18997,NA18999 nsv464095 1 155496893 155627376 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540081 S 1557 1 0 "" 1780854341_A esv268199 1 155502340 155502497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512410,essv2512618,essv2496731,essv2503355,essv2497258,essv2506370,essv2512936,essv2505783,essv2501225,essv2497650 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA18489,NA18498,NA18542,NA18552,NA18566,NA18609,NA18861,NA19093,NA19147 nsv872474 1 155508084 155546185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563307 S 6533 0 1 "" MS25963 dgv392n71 1 155526381 155604287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872475,nsv872476 M 6533 2 0 "" SP54652,SP58180 esv1361545 1 155536862 155536862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747519 S 2 1 0 "" HuRef nsv831670 1 155539223 155733368 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450817 S 95 0 1 "" esv2644164 1 155545449 155545650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227594 S 1 0 1 "" NA18507 nsv872477 1 155591782 155729990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576192 S 6533 1 0 "" IS33935 nsv3132 1 155602593 155615810 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7724 S 9 0 1 "" NA12156 nsv872478 1 155618356 155652120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556723 S 6533 0 1 "" MS22146 esv269016 1 155630093 155630433 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522937,essv2570439,essv2554109,essv2520608,essv2564501,essv2578098,essv2559503,essv2520827,essv2552662,essv2532418,essv2569390,essv2562926,essv2523583,essv2541329,essv2538253,essv2542930,essv2540557,essv2524743,essv2564936,essv2549172,essv2519504,essv2559984,essv2522136,essv2566241,essv2530939,essv2541840,essv2563889,essv2535630,essv2572196,essv2566943,essv2543743,essv2556313,essv2533540,essv2555531,essv2566612,essv2534273,essv2573586,essv2576931,essv2525793,essv2574994,essv2537983,essv2549112,essv2533270 M 157 43 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA11931,NA12044,NA12287,NA12716,NA12751,NA12761,NA12776,NA18498,NA18502,NA18505,NA18508,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18592,NA18603,NA18608,NA18609,NA18853,NA18870,NA18871,NA18944,NA18945,NA18948,NA18959,NA18964,NA18970,NA18980,NA19102 nsv524895 1 155633803 155636057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700901 S 2026 0 1 "" nsv528914 1 155633803 155653560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705600 S 2026 0 1 "" nsv520860 1 155635826 155636057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697654 S 2026 0 1 "" nsv831681 1 155661462 155764136 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450839,nssv1450828 M 95 1 1 FCRL5 esv275399 1 155745150 155749897 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585862 S 1250 0 1 FCRL5 nsv3143 1 155783483 155788840 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1618 S 9 1 0 FCRL5 NA19240 nsv3154 1 155798460 155833166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3426 S 9 1 0 FCRL4 NA12878 nsv508039 1 155856730 155862730 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624219,nssv622297,nssv621480,nssv618510 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv527949 1 155878058 155886767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704458 S 2026 0 1 "" esv5765 1 155891375 155891469 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28206 S 1 1 0 "" SJK esv2579180 1 155893926 155895587 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309977 S 1 0 1 "" NA18507 nsv520011 1 155914722 155940252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697176 S 2026 0 1 FCRL3 esv7754 1 155978615 155980355 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30195 S 1 0 0 "" SJK nsv508040 1 156152851 156158851 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624220 S 4 0 1 "" NA18994 esv2643866 1 156153154 156155041 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310174 S 1 0 0 "" NA18507 nsv3165 1 156169198 156203278 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2569,nssv7729 M 9 2 0 "" NA12156,NA18555 esv2581143 1 156182736 156184082 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297251 S 1 0 1 "" NA18507 esv2288722 1 156183023 156183729 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639759 S 1 0 1 "" NA18507 esv2543006 1 156183218 156183534 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300982 S 1 0 1 "" NA18507 esv2150735 1 156203978 156204417 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593362 S 1 0 1 "" NA18507 nsv523208 1 156288841 156355311 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698928 S 2026 1 0 KIRREL nsv526592 1 156291123 156293163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702911 S 2026 0 1 KIRREL esv5651 1 156308397 156308984 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28092 S 1 0 0 KIRREL SJK esv2956 1 156317236 156317892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25397 S 1 0 1 Single Asian sample YH KIRREL YH dgv393n71 1 156385411 156750909 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872480,nsv872479 M 6533 2 0 CD1A,CD1B,CD1C,CD1D,CD1E,OR10K1,OR10K2,OR10R2,OR10T2 SP52231,SP81481 esv25945 1 156425846 156480784 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13585 S 451 2 0 "" NA18505,NA18907 nsv508626 1 156428556 156508782 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622778 S 4 0 1 CD1A NA18994 nsv527619 1 156435187 156437170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704085 S 2026 0 1 "" nsv831692 1 156490083 156658640 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450862,nssv1450851 M 95 2 0 CD1A,CD1B,CD1C,CD1E,OR10K2,OR10T2 nsv515666 1 156491449 156503686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659323,nssv664298,nssv660921,nssv665215 M 2026 0 4 CD1A nsv523252 1 156561633 156562253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698981 S 2026 0 1 "" esv1173677 1 156710197 156710197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261673 S 2 1 0 "" HuRef esv268639 1 156722909 156723230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522714,essv2543940,essv2545420,essv2523376,essv2550658,essv2547295,essv2565544,essv2520210,essv2548659,essv2524774 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11931,NA11992,NA12003,NA12004,NA12155,NA12717,NA12812,NA12815 nsv470743 1 156750909 156788016 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547783 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR6Y1 HGDP00984 nsv437202 1 156751002 156759778 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467083 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10835 esv2438576 1 156754484 156755995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259738 S 1 0 1 "" NA18507 nsv438070 1 156756569 156757075 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469263,nssv469252 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10835,NA12249 nsv515658 1 156756569 156757075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676710,nssv657910,nssv690975,nssv666360,nssv672124,nssv671739,nssv664271,nssv670626 M 2026 0 8 "" dgv15n17 1 156778069 156791060 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437248,nsv437250,nsv437249 M 60 0 3 OR6Y1 NA19103,NA19202,NA19208 esv2422163 1 156783460 156788016 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5065861,essv5040632,essv5114303,essv5077180,essv5125285,essv5075946,essv5086950,essv5058259,essv5005794,essv5051342,essv5133813,essv5058576,essv5128956,essv5085056,essv5159882,essv5018855,essv5158063,essv5072203,essv5080721,essv5041622,essv5008493,essv5095377,essv5143434,essv5040528,essv5097070,essv5070805,essv5008463,essv5032694,essv5160461,essv5117946,essv5158882,essv5049654,essv5062201,essv5143700 M 1184 0 34 OR6Y1 NA18870,NA19035,NA19036,NA19095,NA19097,NA19098,NA19102,NA19103,NA19201,NA19202,NA19207,NA19208,NA19317,NA19324,NA19350,NA19360,NA19374,NA19385,NA19393,NA19397,NA19399,NA19429,NA19443,NA19469,NA19470,NA19473,NA21339,NA21370,NA21402,NA21405,NA21522,NA21719,NA21738,NA21739 nsv442095 1 156783620 156787041 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR6Y1 dgv40n27 1 156783977 156788016 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464117,nsv464128 M 1557 0 2 OR6Y1 HGDP00467,HGDP00479 nsv515774 1 156783977 156788016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661057,nssv657291,nssv662523,nssv657768,nssv658814,nssv685281,nssv656382,nssv675221,nssv668037,nssv653201,nssv653320,nssv662802,nssv682898,nssv690060,nssv668164,nssv673661,nssv665816,nssv686592,nssv687858,nssv665854,nssv673173,nssv688513,nssv693812,nssv689056,nssv673767,nssv670410,nssv669489,nssv686215,nssv658359,nssv652086,nssv681388,nssv688038,nssv690472,nssv677418,nssv667134,nssv691244,nssv665984,nssv658243,nssv666508,nssv657961,nssv684385 M 2026 0 41 OR6Y1 nsv464139 1 156786829 156787658 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540112 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00914 nsv438082 1 156787361 156788016 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469274,nssv469285,nssv469297,nssv469308 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA19102,NA19103,NA19207,NA19208 dgv394n71 1 156892413 156979134 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872483,nsv872481,nsv872482 M 6533 0 4 OR6K2,OR6K3,SPTA1 IS30141,IS34805,IS36640,MS22898 esv1958503 1 156895813 156896530 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821775 S 1 0 1 SPTA1 NA18507 esv1284753 1 156896011 156896339 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882204 S 2 0 1 SPTA1 HuRef esv9069 1 156896013 156896326 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31510 S 1 0 1 SPTA1 SJK esv2630644 1 156978149 156979604 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223071 S 1 0 1 "" NA18507 esv1944482 1 156978465 156979168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690652 S 1 0 1 "" NA18507 esv3737 1 156978570 156979101 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26178 S 1 0 1 Single Asian sample YH "" YH esv1000674 1 156978655 156978976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580439 S 3 0 1 "" HuRef esv7992 1 156978666 156979001 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30433 S 1 0 1 "" SJK esv27656 1 156981920 156984277 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18404 S 451 2 0 "" NA12878,NA15510 esv2562592 1 156991942 156992893 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364410 S 1 1 0 OR6K6 NA18507 nsv824920 1 156992701 156994749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428847,nssv1433447,nssv1437247,nssv1435681,nssv1423154,nssv1430375 M 31 0 6 "" AK12,AK16,NA18526,NA18566,NA18949,NA18999 nsv821493 1 156992934 156994749 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420669 S 1 0 1 "" NA10851 dgv81n67 1 156993085 156994749 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824964,nsv824931,nsv824942 M 31 7 0 "" AK14,AK2,AK6,NA18547,NA18570,NA18942,NA18951 nsv820010 1 156993464 156994771 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419233 S 2 1 0 "" AK1 esv29669 1 156993484 156994714 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13400 S 451 26 0 "" NA06985,NA11993,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19225,NA19240 nsv824953 1 156993544 156994596 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422393,nssv1436360,nssv1440152,nssv1428055,nssv1423741,nssv1440841,nssv1439483,nssv1423983,nssv1438609,nssv1424324,nssv1425532 M 31 10 1 "" AK10,AK4,NA18537,NA18542,NA18552,NA18564,NA18582,NA18947,NA18968,NA18969,NA18973 nsv824975 1 157002656 157003277 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423155 S 31 0 1 OR6N1 NA18999 esv1967217 1 157118113 157118558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774992 S 1 0 1 "" NA18507 nsv511151 1 157122178 157138077 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626010 S 1 0 1 "" 1 dgv395n71 1 157130469 157188911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872484,nsv872485 M 6533 2 0 PYHIN1 IS37698,MS23811 nsv511717 1 157133715 157137040 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626359 S 1 0 1 "" 1 esv2617713 1 157133820 157137517 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387227 S 1 0 1 "" NA18507 esv4799 1 157133963 157136708 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27240 S 1 0 1 Single Asian sample YH "" YH esv1977143 1 157133971 157136754 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588848 S 1 0 1 "" NA18507 nsv820273 1 157134135 157136615 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419433 S 2 0 1 "" AK1 esv26034 1 157134152 157136674 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11969 S 451 3 16 "" NA07045,NA11931,NA11993,NA12004,NA12006,NA12287,NA12489,NA12878,NA15510,NA18502,NA18508,NA18523,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19190 nsv821093 1 157134152 157137488 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420680 S 1 0 1 "" NA10851 nsv498691 1 157134154 157136609 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585405 S 9 0 1 "" dgv4n6 1 157134155 157136608 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159081,nsv159728 M 24 "" esv7681 1 157134158 157136614 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30122 S 1 0 1 "" SJK dgv82n67 1 157134340 157136581 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824997,nsv824986 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514013 1 157134544 157136576 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627770 S 1414 0 0 "" nsv525964 1 157167751 157168968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702177 S 2026 0 1 PYHIN1 nsv518819 1 157167751 157169876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696272 S 2026 0 1 PYHIN1 nsv3176 1 157221997 157253192 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3433 S 9 0 1 IFI16 NA12878 esv2538030 1 157227377 157233449 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283099 S 1 0 1 "" NA18507 nsv825008 1 157227605 157232987 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431847,nssv1424773 M 31 0 2 "" AK2,AK20 nsv436565 1 157227761 157233914 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465856 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2224503 1 157227791 157232970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747173 S 1 0 1 "" NA18507 nsv819359 1 157227826 157233464 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419724 S 2 1 0 "" AK1 nsv820489 1 157227872 157232987 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420691 S 1 0 1 "" NA10851 nsv498692 1 157227975 157232830 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585406 S 9 0 1 "" esv26648 1 157228357 157232921 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16743 S 451 24 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12414,NA12489,NA12749,NA12776,NA15510,NA18511,NA18858,NA18861,NA18909,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv872486 1 157245815 157356880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564114 S 6533 0 1 AIM2,IFI16 IS30171 esv32912 1 157247463 157248191 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100842 S 51 0 1 IFI16 21656 nsv506961 1 157269600 157275600 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617542,nssv620668,nssv619251 M 4 3 0 IFI16 CHM,NA10860,NA15510 esv33390 1 157271198 157271450 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96453 S 51 1 0 IFI16 22261 esv33763 1 157274185 157274552 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96513 S 51 0 1 IFI16 22261 esv6708 1 157279237 157283374 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29149 S 1 0 1 IFI16 SJK esv21466 1 157279390 157286455 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13216 S 451 2 1 IFI16 NA12239,NA12489,NA12878 nsv825019 1 157279479 157286201 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421481 S 31 0 1 IFI16 NA18997 nsv825032 1 157280538 157283608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424774 S 31 0 1 IFI16 AK2 esv2473532 1 157316264 157317715 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327447 S 1 0 1 "" NA18507 nsv825043 1 157332772 157334568 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422395 S 31 0 1 "" NA18552 esv25078 1 157384975 157390619 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20254 S 451 0 2 "" NA18517,NA19108 dgv396n71 1 157463389 157609063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872487,nsv872488 M 6533 0 2 FCER1A,OR10J3 SP51314,SP52052 esv1183719 1 157686411 157686411 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187164 S 2 1 0 "" HuRef esv275232 1 157719383 157722962 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586086 S 1250 0 1 "" nsv523257 1 157848011 157848842 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698987 S 2026 0 1 "" nsv522601 1 157880422 157883253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705992 S 2026 0 1 "" esv22325 1 157883123 157884293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20037 S 451 0 1 "" NA11993 nsv3188 1 157901756 157942806 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7732 S 9 0 1 "" NA12156 esv1004314 1 157914010 157918732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563905 S 3 0 1 "" HuRef nsv511718 1 157914665 157916449 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626360 S 1 0 1 "" 1 nsv819158 1 157915204 157916305 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419171 S 2 0 1 "" AK1 dgv83n67 1 157915302 157916265 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825065,nsv825054 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820988 1 157915302 157916265 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420702 S 1 0 1 "" NA10851 esv3819 1 157915303 157916336 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26260 S 1 0 1 Single Asian sample YH "" YH esv8340 1 157915327 157916281 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30781 S 1 0 1 "" SJK esv1002313 1 157915331 157916280 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576985 S 3 0 1 "" HuRef nsv160520 1 157915332 157916281 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179098 M 24 "" esv1130296 1 157915332 157916282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003417 S 2 0 1 "" HuRef nsv514014 1 157915376 157916048 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627781 S 1414 0 0 "" esv29934 1 157915386 157916253 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10937 S 451 3 18 "" NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12776,NA15510,NA18511,NA18517,NA18861,NA18907,NA18916,NA19114,NA19129,NA19147,NA19225 nsv825076 1 157949710 157950757 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431849 S 31 0 1 CRP AK20 esv33491 1 158015148 158015476 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92780 S 51 1 0 "" 21944 nsv521503 1 158028744 158062102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698120 S 2026 0 1 FCRL6 esv991387 1 158040204 158042388 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564917 S 3 1 0 FCRL6 HuRef nsv872489 1 158111443 158206624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524323 S 6533 0 1 CCDC19,IGSF9,LOC100505633,SLAMF9,TAGLN2 SP54973 nsv464150 1 158127541 158175017 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540120 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC19,IGSF9,TAGLN2 HGDP00473 nsv524006 1 158153046 158189735 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699866 S 2026 1 0 IGSF9,SLAMF9,TAGLN2 nsv516637 1 158156310 158175017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669784,nssv655349,nssv703037 M 2026 0 3 IGSF9,TAGLN2 nsv520773 1 158189583 158202193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679916,nssv675248,nssv698947 M 2026 0 3 LOC100505633,SLAMF9 nsv159498 1 158213376 158213427 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178076 M 24 LOC100505633 nsv3199 1 158269520 158300919 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4748 S 9 1 0 KCNJ10 NA19129 nsv520189 1 158278136 158362249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705109,nssv688598,nssv661554 M 2026 0 3 ATP1A2,IGSF8,KCNJ10,KCNJ9 esv7386 1 158279982 158280033 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29827 S 1 1 0 KCNJ10 SJK nsv508041 1 158309005 158315005 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621481,nssv624221 M 4 0 2 "" NA15510,NA18994 esv1751918 1 158314309 158314309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675887 S 2 1 0 "" HuRef nsv872490 1 158349636 158388112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585725 S 6533 0 1 ATP1A2,ATP1A4 IS37639 nsv520399 1 158390405 158391499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697393 S 2026 0 1 ATP1A4 nsv522918 1 158390405 158416754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698579 S 2026 0 1 ATP1A4 nsv819332 1 158418318 158419818 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419276 S 2 0 1 ATP1A4 AK1 nsv3210 1 158489465 158534444 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4759 S 9 0 1 COPA,DCAF8,PEX19 NA19129 esv272694 1 158528065 158528306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584450,essv2583288 M 7 2 0 Samples from several populations that are part of the HapMap project. COPA NA19239,NA19240 esv2566827 1 158703334 158704749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366828 S 1 0 1 "" NA18507 nsv872491 1 158736882 158847173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555293 S 6533 0 1 CD84,SLAMF1,SLAMF6 MS21258 nsv831703 1 158762748 158909648 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450873 S 95 1 0 CD84,SLAMF1 esv274599 1 158767480 158767736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580540,essv2579659 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv831714 1 158847792 159043433 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450884 S 95 1 0 CD48,LY9,SLAMF1,SLAMF7 nsv511001 1 158897781 158935223 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624365,nssv622427,nssv621657 M 4 0 0 CD48 NA10860,NA15510,NA18994 nsv506962 1 158909890 158915890 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617543 S 4 1 0 CD48 CHM nsv437213 1 158919354 158948460 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467094 S 60 0 1 Samples from several populations that are part of the HapMap project. CD48 NA12707 nsv508042 1 158919572 158925572 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618511 S 4 0 1 CD48 CHM esv2461296 1 158972240 158973718 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194477 S 1 0 1 "" NA18507 nsv825087 1 159059776 159060604 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437971 S 31 0 1 LY9 NA18951 dgv84n67 1 159060022 159060699 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825109,nsv825120,nsv825131,nsv825143,nsv825098 M 31 0 5 LY9 NA18526,NA18537,NA18564,NA18570,NA18969 esv2642468 1 159201024 159203025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318670 S 1 0 1 "" NA18507 esv2238307 1 159201456 159202119 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856582 S 1 0 1 "" NA18507 esv4267 1 159201587 159202011 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26708 S 1 0 1 Single Asian sample YH "" YH esv8875 1 159201641 159201958 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31316 S 1 0 1 "" SJK dgv1e197 1 159201645 159201972 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2440075,esv2488948 M 1 0 1 "" NA18507 esv1244897 1 159201659 159201975 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624711 S 2 0 1 "" HuRef esv1241558 1 159213176 159213254 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842593 S 2 0 1 "" HuRef esv25590 1 159220366 159227233 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10894 S 451 0 2 "" NA18511,NA18909 esv1107448 1 159221089 159221089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753276 S 2 1 0 "" HuRef esv2541280 1 159221307 159222909 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290524 S 1 0 1 "" NA18507 esv1635079 1 159221474 159221785 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911565 S 2 0 1 "" HuRef esv2542383 1 159271716 159272654 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178281 S 1 1 0 "" NA18507 esv1080531 1 159272308 159272308 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360781 S 2 1 0 "" HuRef nsv3221 1 159274799 159319603 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7736 S 9 0 1 ARHGAP30,PVRL4,TSTD1,USF1 NA12156 nsv872492 1 159276147 159279776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516058 S 6533 1 0 USF1 SP56385 nsv3232 1 159284457 159286704 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2693 S 9 1 0 ARHGAP30 NA18555 esv988172 1 159318542 159322132 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565420 S 3 0 1 PVRL4 HuRef esv32799 1 159428462 159438144 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98925 S 51 1 0 ADAMTS4,NDUFS2 21606 nsv482136 1 159451711 159455662 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558497 S 1 0 1 FCER1G KB1 nsv523318 1 159499396 159501507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699060 S 2026 0 1 PCP4L1 nsv520253 1 159501247 159504516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697309 S 2026 0 1 PCP4L1 esv1486999 1 159518177 159518251 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648136 S 2 0 1 PCP4L1 HuRef nsv525443 1 159530004 159540935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701571 S 2026 0 1 "" nsv517826 1 159530004 159544225 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695231 S 2026 1 0 MPZ nsv872493 1 159605684 159680418 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553860 S 6533 1 0 "" MS20356 dgv133e1 1 159610879 159948176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv623,esv804 M 271 0 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,HSPA6,HSPA7,RPL31P11 NA18998 nsv825154 1 159611329 159613322 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434202 S 31 0 1 "" NA18570 nsv3243 1 159658059 159743517 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1635,nssv10294,nssv10301,nssv4777 M 9 0 3 FCGR2A NA18956,NA19129,NA19240 nsv509535 1 159663848 159737721 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621105,nssv623802,nssv619817 M 4 3 0 "" NA10860,NA15510,NA18994 nsv3254 1 159664506 159679557 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7097,nssv10296,nssv4769 M 9 3 0 "" NA12156,NA18956,NA19129 dgv4n68 1 159669654 159933356 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831736,nsv831725 M 95 3 2 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7,RPL31P11 dgv134e1 1 159672937 159891051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18223,essv10477,essv11983,essv11103,essv1272,essv17626,essv7196,essv15853,essv16874,essv17813,essv8113,essv11916,essv4427,essv15042,essv15421,essv9341,essv6135,essv20064,essv3062,essv5158,essv16539,essv11683,essv19431,essv4254,essv14778,essv23331,essv17001,essv8308,essv13149,essv22505,essv10647,essv10382,essv11430,essv8368,essv24071,essv25008,essv14065,essv17557,essv19576,essv24898,essv15673,essv18299,essv17275,essv9697,essv12766,essv6976,essv5100,essv18997,essv2094,essv16057,essv10931,essv21054,essv11780,essv12247,essv4022 M 271 0 0 FCGR2A,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 NA06991,NA06994,NA07048,NA10831,NA10839,NA10846,NA10859,NA11840,NA11882,NA12005,NA12057,NA12750,NA12753,NA12762,NA12864,NA18501,NA18502,NA18503,NA18504,NA18515,NA18517,NA18532,NA18547,NA18564,NA18573,NA18577,NA18582,NA18603,NA18853,NA18855,NA18857,NA18858,NA18861,NA18912,NA18913,NA18914,NA18949,NA18970,NA18981,NA18995,NA19101,NA19102,NA19103,NA19129,NA19144,NA19154,NA19159,NA19203,NA19205,NA19206,NA19209,NA19210,NA19211,NA19222,NA19223 nsv428257 1 159672939 160134887 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452186,nssv452264,nssv452175,nssv451997,nssv452119,nssv452208,nssv452230,nssv452142,nssv452242,nssv452275,nssv452286,nssv452108,nssv452008,nssv452297,nssv452308,nssv452219,nssv452197,nssv452319,nssv452020,nssv452131,nssv452164,nssv452153,nssv452253 M 62 0 23 ATF6,DUSP12,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSPA6,HSPA7,RPL31P11 HGDP00449,HGDP00450,HGDP00460,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19189,NA19257 nsv820819 1 159675172 159717780 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420713 S 1 1 0 "" NA10851 esv28122 1 159675687 159913382 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12861,esv21308,esv15123,esv18665 M 451 7 18 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12489,NA12749,NA12776,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv825165 1 159676257 159717780 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432396 S 31 1 0 "" NA18972 nsv8491 1 159677103 159718880 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25713,nssv22111,nssv20411,nssv22760,nssv21766,nssv27632,nssv22429,nssv27840,nssv21071,nssv21091,nssv23078,nssv22432,nssv23379,nssv22434,nssv21781,nssv20101,nssv23678,nssv23388,nssv27740,nssv22104,nssv21777,nssv22441,nssv24563,nssv20761,nssv20741,nssv20431,nssv24273,nssv25454,nssv21421,nssv27522,nssv22762,nssv23979,nssv21401,nssv21774 M 31 4 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA12872,NA18504,NA18552,NA18564,NA18572,NA18942,NA18972,NA18975,NA19132,NA19240 esv1005357 1 159677147 159709073 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586678 S 3 0 1 "" HuRef nsv514914 1 159680016 159717968 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628456 S 1414 0 0 "" nsv3265 1 159681573 159704172 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2587,nssv1628,nssv3453 M 9 3 0 "" NA12878,NA18555,NA19240 dgv8e55 1 159730122 159940306 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750814,esv2750812,esv2750813 M 771 3 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7,RPL31P11 BEC_408,BEC_425,BEC_531 dgv135e1 1 159730438 159948176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4308,essv19866,essv3445,essv25032,essv15161,essv10615,essv5862 M 271 0 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,HSPA6,HSPA7,RPL31P11 NA12234,NA12801,NA18555,NA18564,NA18956,NA19210,NA19211 dgv136e1 1 159732044 159910608 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20987,essv20462,essv6057 M 271 0 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 NA06994,NA10863,NA18603 nsv482137 1 159741829 159755983 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558498 S 1 1 0 FCGR2A KB1 nsv8502 1 159743972 159913174 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20409,nssv22101,nssv21757,nssv23689,nssv22769,nssv19108,nssv26379,nssv26873,nssv26375,nssv22096,nssv24878,nssv26573,nssv26733,nssv25954,nssv25958,nssv19430,nssv20095 M 31 0 16 Samples from several populations that are part of the HapMap project. FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 NA07029,NA10839,NA11830,NA12155,NA12740,NA18504,NA18517,NA18552,NA18564,NA18853,NA18860,NA18980,NA19144,NA19173,NA19221,NA19240 esv33393 1 159745305 160346951 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101513,essv98751,essv97486,essv101107,essv93879,essv100802,essv98210,essv94830,essv101296,essv94360,essv96932,essv97924,essv95539,essv95371,essv97445,essv95901,essv98979,essv92935,essv93746,essv96235,essv96700,essv97190,essv98620,essv99774,essv95959,essv93541,essv93182,essv99626,essv95013,essv92656,essv96426,essv99230,essv100269,essv99411,essv98446 M 51 1 34 ATF6,DUSP12,FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,FCRLB,HSPA6,HSPA7,NOS1AP,OLFML2B,RPL31P11 21603,21606,21616,21618,21634,21656,21772,21791,21805,21808,21817,21837,21847,21872,21879,21911,21938,21939,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22261,22275,22286,22335,22352 dgv17n21 1 159746369 159766754 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523906,nsv526950 M 2026 0 2 FCGR2A,HSPA6 nsv519779 1 159746369 159905010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697045 S 2026 0 1 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 nsv464173 1 159746369 159913431 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540130 S 1557 1 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 1780854525_A nsv825176 1 159746469 159913502 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428850,nssv1423158,nssv1432407,nssv1421483,nssv1434296,nssv1433451 M 31 6 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 AK12,NA18526,NA18592,NA18972,NA18997,NA18999 nsv820341 1 159746469 159914772 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420724 S 1 1 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 NA10851 nsv872494 1 159748367 159779355 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515494,nssv1519461,nssv1502245,nssv1514205 M 6533 4 0 FCGR2A,FCGR3A,HSPA6 SP51058,SP55971,SP56207,SP81039 dgv397n71 1 159748367 159836043 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872496,nsv872495 M 6533 3 0 FCGR2A,FCGR2C,FCGR3A,HSPA6 SP50102,SP55694,SP55717 dgv398n71 1 159748367 159913431 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872497,nsv872499 M 6533 2 0 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 SP52114,SP57314 esv997087 1 159749579 159913028 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586300 S 3 0 1 FCGR2A,FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 HuRef dgv22n16 1 159749902 159845486 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436100,nsv436381 M 2 0 1 FCGR2A,FCGR2C,FCGR3A,HSPA6,HSPA7 NA18505 dgv85n67 1 159755997 159914772 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825198,nsv825220,nsv825231,nsv825209,nsv825187 M 31 0 5 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 AK14,AK20,AK4,NA18564,NA18949 nsv819523 1 159758182 159899278 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418784 S 2 0 1 FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 AK1 nsv818489 1 159761664 159913448 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417711 S 112 1 0 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7 NA18999 nsv517640 1 159761664 159929108 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652754,nssv679036,nssv677518,nssv686593,nssv677351,nssv693456,nssv671510,nssv672481,nssv686629,nssv678767,nssv666844,nssv654186,nssv693890,nssv677746,nssv698834 M 2026 7 8 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA6,HSPA7,RPL31P11 dgv137e1 1 159763841 159910608 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5783,essv8693,essv15942,essv14942,essv24352,essv23302,essv6096,essv24324,essv23720,essv22791,essv13501,essv17988,essv13817,essv3254 M 271 0 0 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA7 NA10839,NA11882,NA12005,NA12264,NA12753,NA12813,NA18515,NA18540,NA18573,NA18853,NA18912,NA18914,NA18967,NA19132 dgv138e1 1 159763841 159948176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2363,essv12956,essv8562,essv13240,essv5007,essv20874,essv19311,essv24647,essv19379,essv18558,essv2565 M 271 0 0 FCGR2B,FCGR2C,FCGR3A,FCGR3B,FCRLA,HSPA7,RPL31P11 NA07019,NA07022,NA10846,NA10851,NA12145,NA18503,NA18571,NA18974,NA18995,NA19102,NA19131 nsv159576 1 159767935 159769570 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178154 M 24 "" nsv872498 1 159768149 159862907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514772 S 6533 1 0 FCGR2C,FCGR3A,FCGR3B,HSPA7 SP56072 essv6858 1 159775387 159884140 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FCGR2C,FCGR3A,FCGR3B,HSPA7 NA18558 dgv139e1 1 159775387 159910608 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv929,essv3577,essv4108,essv19737,essv3508,essv7922,essv9543,essv7633,essv6439,essv22275,essv5641,essv3903 M 271 0 0 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA7 NA10859,NA12762,NA18529,NA18547,NA18579,NA18592,NA18861,NA18949,NA18960,NA18987,NA18999,NA19209 nsv514915 1 159776112 159913200 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628457 S 1414 0 0 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA7 nsv818500 1 159777717 159884140 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415735 S 112 1 0 FCGR2C,FCGR3A,FCGR3B,HSPA7 NA12875 nsv442209 1 159778034 159906183 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA7 dgv1n39 1 159778175 159787037 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis nsv482138,nsv482139 M 1 1 0 FCGR3A KB1 nsv509546 1 159779456 159921056 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617996,nssv619818,nssv623804,nssv621106 M 4 4 0 FCGR2B,FCGR2C,FCGR3A,FCGR3B,HSPA7,RPL31P11 CHM,NA10860,NA15510,NA18994 dgv23n16 1 159779947 159867719 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436808,nsv436035,nsv436036 M 2 2 0 FCGR2C,FCGR3A,FCGR3B,HSPA7 NA15510,NA18505 nsv159772 1 159781994 159782069 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178350 M 24 FCGR3A esv2507888 1 159784837 159867596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206656 S 1 0 1 FCGR2C,FCGR3A,FCGR3B,HSPA7 NA18507 esv990743 1 159786464 159886090 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587049 S 3 0 1 FCGR2C,FCGR3A,FCGR3B,HSPA7 HuRef nsv821621 1 159789853 159903466 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421202,nssv1421213 M 31 0 2 FCGR2B,FCGR2C,FCGR3B,HSPA7 dgv24n16 1 159808110 159908158 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436811,nsv436806 M 2 1 0 FCGR2B,FCGR2C,FCGR3B,HSPA7 NA18505 nsv825242 1 159825720 159886090 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437885 S 31 0 1 FCGR2C,FCGR3B,HSPA7 NA18547 esv3325 1 159831257 159913343 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25766 S 1 0 1 Single Asian sample YH FCGR2B,FCGR2C,FCGR3B,HSPA7 YH esv5752 1 159831303 159913161 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28193 S 1 0 1 FCGR2B,FCGR2C,FCGR3B,HSPA7 SJK nsv825254 1 159843982 159886090 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427290 S 31 1 0 FCGR3B,HSPA7 AK8 dgv140e1 1 159884121 159910608 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8043,essv25099 M 271 0 0 FCGR2B NA12814,NA19103 nsv825265 1 159885269 159886090 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423987 S 31 0 1 "" NA18582 nsv437224 1 159887482 159905154 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467105 S 60 0 1 Samples from several populations that are part of the HapMap project. FCGR2B NA12752 nsv482140 1 159899566 159910487 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558501 S 1 1 0 FCGR2B KB1 nsv464184 1 159913431 160151976 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540137 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATF6,DUSP12,FCGR2B,FCRLA,FCRLB,RPL31P11 HGDP00864 nsv524449 1 159947492 159948404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700382 S 2026 0 1 FCRLA nsv516773 1 159958057 159969387 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679635,nssv670750 M 2026 2 0 FCRLB nsv464195 1 159959627 159969416 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540144 S 1557 0 1 FCRLB 1780854158_A nsv527196 1 159969642 159969822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703594 S 2026 0 1 "" esv1005615 1 159973936 159981068 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563591 S 3 0 1 "" HuRef nsv464206 1 160064863 160334071 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540152 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATF6,NOS1AP,OLFML2B HGDP00458 nsv470744 1 160064863 160334071 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547784 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATF6,NOS1AP,OLFML2B HGDP00458 nsv3276 1 160072069 160093895 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4786 S 9 1 0 ATF6 NA19129 esv269148 1 160105146 160105491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514559 S 157 1 0 Samples from several populations that are part of the HapMap project. ATF6 NA11840 nsv831747 1 160192991 160369935 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450950,nssv1451028,nssv1450984,nssv1450973,nssv1451039,nssv1451017,nssv1450995,nssv1450962,nssv1451006 M 95 0 9 ATF6,NOS1AP,OLFML2B nsv160321 1 160201543 160201949 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178899 M 24 "" nsv3287 1 160230415 160263777 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1645 S 9 1 0 OLFML2B NA19240 esv2055258 1 160319105 160319825 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701003 S 1 0 1 NOS1AP NA18507 esv2951 1 160319247 160319798 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25392 S 1 0 1 Single Asian sample YH NOS1AP YH nsv158962 1 160319290 160319609 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177540 M 24 NOS1AP esv6376 1 160319292 160319610 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28817 S 1 0 1 NOS1AP SJK esv988854 1 160319294 160319613 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573457 S 3 0 1 NOS1AP HuRef esv1282003 1 160319304 160319624 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179846 S 2 0 1 NOS1AP HuRef essv5883 1 160331092 160626632 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C1orf111,C1orf226,MIR4654,MIR556,NOS1AP NA18576 dgv141e1 1 160331092 160769980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5032,esv504 M 271 0 0 C1orf111,C1orf226,MIR4654,MIR556,NOS1AP,SH2D1B,UHMK1 NA18576 dgv399n71 1 160334071 160634278 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872500,nsv872501 M 6533 3 0 C1orf111,C1orf226,MIR4654,MIR556,NOS1AP,SH2D1B SP52863,SP81345,SP81507 nsv831759 1 160340580 160445506 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451061,nssv1451050 M 95 1 1 MIR4654,NOS1AP nsv818511 1 160343145 160612442 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417235 S 112 1 0 C1orf111,MIR4654,MIR556,NOS1AP NA18576 esv270775 1 160346690 160346942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2535256,essv2554333,essv2558285,essv2540064,essv2520745,essv2557046,essv2552436,essv2532276,essv2550016,essv2539034,essv2561305,essv2543024,essv2564901,essv2519780,essv2560122,essv2566240,essv2567974,essv2528700,essv2541649,essv2563690,essv2553254,essv2542093,essv2527849,essv2562400,essv2539377,essv2533864,essv2555772,essv2530178,essv2576948,essv2575566,essv2575370,essv2526731,essv2524231,essv2549610,essv2551510,essv2536178,essv2563559 M 157 37 0 Samples from several populations that are part of the HapMap project. NOS1AP NA06986,NA10847,NA12249,NA12287,NA12750,NA18489,NA18498,NA18501,NA18502,NA18505,NA18511,NA18519,NA18523,NA18550,NA18558,NA18566,NA18570,NA18572,NA18577,NA18579,NA18592,NA18603,NA18605,NA18856,NA18907,NA18909,NA18912,NA18916,NA18945,NA18949,NA18970,NA19099,NA19102,NA19114,NA19129,NA19225,NA19257 esv34209 1 160355955 160643940 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986899,essv6990384,essv6979587,essv6979588,essv6979589 M 771 1 0 C1orf111,C1orf226,MIR4654,MIR556,NOS1AP,SH2D1B NA18576 nsv516482 1 160374743 161141819 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697575,nssv705937,nssv696338,nssv654684,nssv654585,nssv696690,nssv705301,nssv678768,nssv702375,nssv668654,nssv662445,nssv673362 M 2026 4 8 C1orf110,C1orf111,C1orf226,DDR2,HSD17B7,MIR4654,MIR556,NOS1AP,SH2D1B,UAP1,UHMK1 esv34749 1 160406966 160450417 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986751,essv6978960 M 771 1 0 NOS1AP NA12812 dgv142e1 1 160415324 160460362 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25027,essv19155 M 271 0 0 NOS1AP NA12801,NA12812 nsv818522 1 160422610 160440019 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416024 S 112 1 0 NOS1AP NA12812 dgv41n27 1 160422610 160445771 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464228,nsv464217 M 1557 2 0 NOS1AP 1780854101_A,NINDS_57 nsv818533 1 160435892 160440019 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416025 S 112 1 0 NOS1AP NA12801 esv2653197 1 160496818 160498463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263840 S 1 0 1 NOS1AP NA18507 esv1930340 1 160497197 160498102 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571313 S 1 0 1 NOS1AP NA18507 nsv825276 1 160497235 160497878 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421485,nssv1440157,nssv1424777,nssv1439488,nssv1437896,nssv1437972,nssv1433453,nssv1423159,nssv1430378 M 31 0 9 NOS1AP AK16,AK2,NA18526,NA18537,NA18547,NA18564,NA18951,NA18997,NA18999 esv3877 1 160497307 160498087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26318 S 1 0 1 Single Asian sample YH NOS1AP YH esv29246 1 160497369 160497846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20435 S 451 0 1 NOS1AP NA18916 esv34183 1 160506331 160539290 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 NOS1AP esv268926 1 160529592 160529930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510998,essv2505521,essv2508502,essv2493447,essv2500639,essv2501562 M 157 6 0 Samples from several populations that are part of the HapMap project. NOS1AP NA11831,NA12154,NA12717,NA12763,NA18571,NA18608 nsv8513 1 160618070 160621369 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22087,nssv22431,nssv26552,nssv23080,nssv23087 M 31 5 0 Samples from several populations that are part of the HapMap project. C1orf226 NA11830,NA12155,NA18860,NA18975,NA19240 nsv159160 1 160743792 160745458 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177738 M 24 UHMK1 esv27514 1 160848403 160850569 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19699 S 451 2 0 "" NA19190,NA19225 nsv3299 1 160916245 160934120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10310 S 9 1 0 DDR2 NA18956 esv268951 1 161014066 161014265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502899,essv2495315,essv2496752,essv2502984,essv2498422,essv2512399,essv2505447,essv2500565,essv2506457 M 157 9 0 Samples from several populations that are part of the HapMap project. DDR2 NA12156,NA12287,NA18498,NA18507,NA18858,NA18949,NA18952,NA18956,NA19108 esv1698857 1 161027946 161027946 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590542 S 2 1 0 HSD17B7 HuRef nsv3310 1 161054079 161089489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3464 S 9 1 0 "" NA12878 nsv437251 1 161131100 161160940 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467132 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 esv273997 1 161131735 161131952 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581505 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv872502 1 161134962 161149540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541780,nssv1523831 M 6533 0 2 "" MS15491,SP54223 nsv437252 1 161140149 161160940 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467133 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv519874 1 161143781 161149540 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697098 S 2026 1 0 "" nsv516898 1 161153399 161159900 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674520,nssv690262,nssv680688,nssv692739,nssv673701,nssv704813,nssv694279,nssv654745,nssv692911,nssv695540,nssv679886 M 2026 2 9 "" nsv437254 1 161154612 161160940 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467135 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 nsv437253 1 161154612 161166987 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467134 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18506 nsv438093 1 161159271 161159900 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469385,nssv469319,nssv469341,nssv469330,nssv469430,nssv469363,nssv469452,nssv469374,nssv469352,nssv469396,nssv469419,nssv469408,nssv469463,nssv469441 M 269 0 14 Samples from several populations that are part of the HapMap project. "" NA12740,NA12751,NA18506,NA18508,NA18871,NA18872,NA19116,NA19120,NA19127,NA19129,NA19131,NA19132,NA19238,NA19240 nsv522470 1 161163119 161166987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705834 S 2026 0 1 "" nsv3321 1 161203199 161236664 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3474 S 9 1 0 "" NA12878 nsv3332 1 161309596 161341602 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3484 S 9 1 0 RGS4 NA12878 esv273893 1 161355394 161355792 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579247,essv2579524 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268672 1 161355456 161355796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565586,essv2546342,essv2521117,essv2525963,essv2536618,essv2543889,essv2531865,essv2547588,essv2558548,essv2564442,essv2577662,essv2553610,essv2537699,essv2528550,essv2569495,essv2578813,essv2527245,essv2544911,essv2541176,essv2564951,essv2532632,essv2543586,essv2562368,essv2572009,essv2529566,essv2538773,essv2526332,essv2574904,essv2568834,essv2560447,essv2549655,essv2533247 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11829,NA11881,NA11894,NA11918,NA11920,NA11992,NA12006,NA12717,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA18508,NA18510,NA18522,NA18526,NA18545,NA18558,NA18576,NA18870,NA18909,NA18973,NA19093,NA19108,NA19114,NA19138,NA19147,NA19190,NA19225 esv269346 1 161483841 161483926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518437 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv160306 1 161574673 161581055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178884 M 24 NUF2 esv271740 1 161581031 161581370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558068,essv2565595,essv2576077,essv2521042,essv2526163,essv2542598,essv2536384,essv2522762,essv2543859,essv2570823,essv2556486,essv2523354,essv2577507,essv2570539,essv2521620,essv2525240,essv2535441,essv2554058,essv2552175,essv2520666,essv2529133,essv2558450,essv2564469,essv2553898,essv2559486,essv2565226,essv2576375,essv2520146,essv2564102,essv2546713,essv2532052,essv2562646,essv2569407,essv2538898,essv2569710,essv2562963,essv2540498,essv2561202,essv2539880,essv2559944,essv2521976,essv2566204,essv2530993,essv2567656,essv2541699,essv2570285,essv2563865,essv2572564,essv2558974,essv2541946,essv2528114,essv2562495,essv2534096,essv2555444,essv2533470,essv2555584,essv2567166,essv2573772,essv2527513,essv2534198,essv2531383,essv2573665,essv2543065,essv2571921,essv2526438,essv2574854,essv2560189,essv2546108,essv2574366,essv2537831,essv2532945,essv2554726,essv2548043,essv2524964,essv2563485 M 157 75 0 Samples from several populations that are part of the HapMap project. NUF2 NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12004,NA12043,NA12044,NA12144,NA12156,NA12249,NA12287,NA12489,NA12716,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12892,NA18505,NA18507,NA18508,NA18519,NA18520,NA18532,NA18552,NA18562,NA18563,NA18570,NA18571,NA18572,NA18573,NA18577,NA18592,NA18593,NA18603,NA18609,NA18638,NA18856,NA18907,NA18909,NA18916,NA18943,NA18944,NA18945,NA18947,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA18973,NA19114,NA19138,NA19190,NA19239,NA19240 esv272989 1 161581032 161581371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582954,essv2584816,essv2583874 M 7 3 0 Samples from several populations that are part of the HapMap project. NUF2 NA12892,NA19239,NA19240 nsv831770 1 161607037 161775304 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451073 S 95 0 1 "" esv2388123 1 161610347 161610737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960811 S 1 0 1 "" NA18507 esv2529490 1 161610481 161610562 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234840 S 1 0 1 "" NA18507 esv1163797 1 161610496 161610568 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648243 S 2 0 1 "" HuRef nsv872503 1 161633478 161674428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507690 S 6533 0 1 "" SP54657 nsv523372 1 161673178 161688944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699121 S 2026 0 1 "" nsv825287 1 161681762 161682270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436364 S 31 0 1 "" NA18542 nsv524883 1 161723585 161724069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700889 S 2026 0 1 "" esv1113886 1 161738576 161738576 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659853 S 2 1 0 "" HuRef nsv872504 1 161863262 162028856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552700 S 6533 0 1 "" MS19587 nsv3343 1 161887363 161926448 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2597,nssv4795 M 9 2 0 "" NA18555,NA19129 esv268872 1 161906280 161906576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565537 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv1626476 1 161951309 161951309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727050 S 2 1 0 "" HuRef nsv522442 1 161982434 162031896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705800 S 2026 0 1 "" esv268570 1 162039344 162045514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509770,essv2497029 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA19190 esv2218865 1 162048152 162048582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809630 S 1 0 1 "" NA18507 esv34034 1 162113502 162171777 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2538662 1 162151444 162152936 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213308 S 1 0 1 "" NA18507 nsv831781 1 162168880 162330459 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451084,nssv1451095,nssv1451106 M 95 3 0 "" esv1514467 1 162299493 162299493 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629407 S 2 1 0 "" HuRef dgv400n71 1 162415490 162530434 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872505,nsv872506 M 6533 0 2 "" IS35028,IS35498 esv2445075 1 162442263 162443765 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343397 S 1 0 1 "" NA18507 esv2269239 1 162442656 162443042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888268 S 1 0 1 "" NA18507 nsv872507 1 162450455 162528178 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541977 S 6533 1 0 "" MS15576 nsv872508 1 162465936 162639701 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537247 S 6533 1 0 "" MS13135 esv993183 1 162471400 162471400 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585495 S 3 1 0 "" HuRef nsv520400 1 162504226 162530434 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663692,nssv692863 M 2026 2 0 "" esv271807 1 162506148 162506995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493273,essv2496574,essv2506197,essv2505217,essv2505925,essv2507294,essv2501356,essv2506744,essv2498944,essv2510931,essv2497473,essv2510405,essv2502138 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18510,NA18523,NA18853,NA18861,NA18912,NA19093,NA19108,NA19114,NA19116,NA19147,NA19172,NA19257 nsv437235 1 162515744 162713803 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467116 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10857 nsv3354 1 162562648 162597123 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3493 S 9 1 0 "" NA12878 esv275481 1 162617092 162617695 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585577,essv2585563 M 1250 1 1 "" esv2645894 1 162645496 162646877 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178105 S 1 0 1 "" NA18507 nsv516000 1 162647580 162655215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674293,nssv665656,nssv670411 M 2026 0 3 "" nsv524999 1 162652314 162662472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701030 S 2026 0 1 "" esv22382 1 162656169 162657037 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19814 S 451 0 1 "" NA18909 esv2636261 1 162675497 162676446 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370262 S 1 1 0 "" NA18507 esv2420664 1 162702333 162702710 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499385 S 1 0 1 "" NA18507 nsv831792 1 162713493 162895123 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451128,nssv1451117 M 95 1 1 PBX1 esv273005 1 162750419 162750504 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581206 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv268123 1 163009365 163009450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515994 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC100505795,PBX1 NA12873 esv1991981 1 163117025 163117419 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658957 S 1 0 1 "" NA18507 esv1476698 1 163256343 163256394 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105523 S 2 0 1 "" HuRef nsv825298 1 163279982 163281173 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425537 S 31 0 1 "" AK4 nsv3365 1 163405806 163429816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1662 S 9 1 0 "" NA19240 esv1005410 1 163583793 163583877 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580235 S 3 0 1 LMX1A HuRef esv1310421 1 163583794 163583879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646110 S 2 0 1 LMX1A HuRef nsv506963 1 163599340 163605340 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619252 S 4 1 0 "" NA10860 dgv143e1 1 163684150 163692160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1100,essv14008 M 271 0 0 "" NA19222 nsv8524 1 163687901 163691598 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27037 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv25633 1 163688428 163690833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12585 S 451 0 1 "" NA19190 esv2421711 1 163688498 163690794 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130654,essv5112680,essv5110414,essv5107829,essv5026466,essv5050989,essv5097627,essv5028908,essv5052329,essv5097010,essv5102949,essv5013914,essv5133143,essv5099394,essv5113630,essv5017163 M 1184 0 16 "" NA18515,NA18516,NA18868,NA18869,NA19096,NA19150,NA19151,NA19190,NA19221,NA19222,NA19223,NA20348,NA21295,NA21403,NA21404,NA21414 nsv441718 1 163688498 163690794 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv144e1 1 163688929 163692160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15940,essv10185 M 271 0 0 "" NA18515,NA18516 nsv3376 1 163749746 163784447 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1671 S 9 1 0 LOC400794,LRRC52 NA19240 esv993172 1 163772502 163772502 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569480 S 3 1 0 LOC400794 HuRef esv1117485 1 163772503 163772503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746897 S 2 1 0 LOC400794 HuRef esv271376 1 163798510 163800713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498279,essv2499934,essv2511285,essv2494464,essv2512393 M 157 5 0 Samples from several populations that are part of the HapMap project. LOC400794,LRRC52 NA18526,NA18562,NA18570,NA18572,NA18949 nsv3387 1 163808794 163826002 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7755 S 9 1 0 LOC400794 NA12156 esv1383555 1 163818552 163818552 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709335 S 2 1 0 "" HuRef esv2279760 1 163818595 163819086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675961 S 1 0 1 "" NA18507 esv1071388 1 163818805 163819003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040025 S 2 0 1 "" HuRef esv1123882 1 163819088 163819088 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888734 S 2 1 0 "" HuRef esv268116 1 163819741 163825823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565703,essv2542407,essv2568167,essv2525418,essv2554133,essv2552184,essv2544594,essv2541337,essv2542638,essv2534505,essv2519729,essv2529058,essv2563734,essv2553351,essv2535785,essv2559013,essv2555224,essv2527486,essv2573722,essv2543117,essv2525757,essv2529695,essv2548795,essv2525117 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11829,NA11919,NA11995,NA12156,NA12287,NA12489,NA18526,NA18545,NA18550,NA18561,NA18566,NA18579,NA18603,NA18605,NA18608,NA18638,NA18943,NA18952,NA18964,NA18965,NA18980,NA19093 esv28160 1 163870187 163871072 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15720 S 451 0 4 MGST3 NA11993,NA12004,NA12414,NA18909 esv33662 1 163898632 163898663 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93377 S 51 1 0 ALDH9A1 22170 esv33411 1 163915533 163915947 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101243,essv95198,essv94816,essv96957,essv97340,essv94593,essv96116,essv96637,essv96004,essv93524,essv93283,essv96497,essv99235,essv100130,essv94299 M 51 0 15 ALDH9A1 21618,21721,21791,21817,21879,21932,22007,22011,22127,22128,22170,22261,22275,22286,22394 esv33567 1 163915533 163917071 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98585,essv99455 M 51 0 2 ALDH9A1 22085,22335 esv2555363 1 163925273 163926219 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294020 S 1 1 0 ALDH9A1 NA18507 esv1624307 1 163925930 163925930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029930 S 2 1 0 ALDH9A1 HuRef nsv518886 1 163980811 164008270 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696345 S 2026 1 0 TMCO1 esv2520993 1 163997462 163998928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250564 S 1 0 1 TMCO1 NA18507 esv2177447 1 163997649 163998330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759381 S 1 0 1 TMCO1 NA18507 esv5064 1 163997827 163998285 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27505 S 1 0 1 Single Asian sample YH TMCO1 YH esv6923 1 163997864 163998145 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29364 S 1 0 1 TMCO1 SJK nsv159176 1 163997870 163998149 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177754 M 24 TMCO1 nsv517792 1 164052127 164078353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690750,nssv653274 M 2026 0 2 UCK2 nsv818544 1 164064590 164078353 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417712 S 112 1 0 UCK2 NA18999 nsv437246 1 164089515 164127437 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467127 S 60 0 1 Samples from several populations that are part of the HapMap project. UCK2 NA12753 esv270231 1 164127978 164129638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510126,essv2503181,essv2495421,essv2511472,essv2500205,essv2505563,essv2502909,essv2513137,essv2510373,essv2502815,essv2496736,essv2510685,essv2504268,essv2508969,essv2498308,essv2497348,essv2494606,essv2508289,essv2499894,essv2507797,essv2506388,essv2507594,essv2512752,essv2508479,essv2510073,essv2496141,essv2507565,essv2513359,essv2495499,essv2504917,essv2511126,essv2503553,essv2502349,essv2505453,essv2509406,essv2497390,essv2503724,essv2495937,essv2495132,essv2500751,essv2512791,essv2509635,essv2498737,essv2497457,essv2512062,essv2498026,essv2503919,essv2499592,essv2513080 M 157 49 0 Samples from several populations that are part of the HapMap project. UCK2 NA07037,NA07357,NA10847,NA11829,NA11881,NA11919,NA11920,NA12006,NA12154,NA12156,NA12249,NA12414,NA12892,NA18498,NA18501,NA18505,NA18522,NA18526,NA18545,NA18550,NA18561,NA18562,NA18564,NA18566,NA18576,NA18577,NA18582,NA18593,NA18603,NA18638,NA18907,NA18916,NA18942,NA18944,NA18947,NA18948,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18973,NA18980,NA19129,NA19138,NA19147,NA19238,NA19240 esv272593 1 164127981 164129603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581004,essv2579779 M 7 2 0 Samples from several populations that are part of the HapMap project. UCK2 NA19238,NA19240 nsv872509 1 164151771 164183733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535289 S 6533 1 0 "" MS12130 esv2553540 1 164155600 164157463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163160 S 1 0 1 "" NA18507 nsv520206 1 164170586 164180398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661788,nssv698363,nssv704968,nssv692343 M 2026 0 4 "" esv24717 1 164179665 164181965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21395 S 451 0 1 "" NA11993 nsv159546 1 164428328 164428328 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178124 M 24 "" nsv3398 1 164442179 164457801 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9374,nssv4806 M 9 2 0 "" NA18517,NA19129 esv26934 1 164447056 164463611 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18239 S 451 4 0 "" NA18502,NA18858,NA18861,NA19129 nsv442271 1 164451105 164460994 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517576 1 164453091 164458301 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652416,nssv660817 M 2026 2 0 "" dgv18n21 1 164523455 164530867 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv529043,nsv525333 M 2026 0 2 "" nsv519423 1 164542624 164564475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696845 S 2026 0 1 "" nsv527245 1 164584438 164584851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703647 S 2026 0 1 "" esv1115539 1 164605591 164605591 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621988 S 2 1 0 "" HuRef esv6516 1 164635316 164637741 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28957 S 1 0 1 "" SJK nsv872510 1 164735053 164766647 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506334 S 6533 0 1 "" SP54225 dgv145e1 1 164758503 164917609 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4558,esv700 M 271 0 0 FMO9P NA18524 nsv872511 1 164771810 164856670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570035 S 6533 0 1 FMO9P IS31768 dgv401n71 1 164799189 164862316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872513,nsv872512,nsv872517,nsv872515,nsv872516,nsv872514 M 6533 0 38 FMO9P IS30041,IS30180,IS30198,IS30319,IS30348,IS30480,IS30616,IS30742,IS31706,IS32411,IS32651,IS33531,IS33800,IS33959,IS34005,IS34809,IS35177,IS35245,IS36412,IS37778,IS38067,IS38341,IS38346,IS38610,IS38650,IS38849,IS39637,IS39646,IS40017,IS40031,IS40326,IS40433,IS40603,IS40625,IS40680,IS40832,IS41968,MS12968 essv5848 1 164810166 164868402 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FMO9P NA18524 dgv402n71 1 164811899 164889804 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872518,nsv872519 M 6533 0 2 FMO9P SP54621,SP57831 esv34401 1 164812966 164884225 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979291,essv6979290,essv6988144,essv6989081 M 771 0 1 FMO9P NA18524 nsv872520 1 164813475 164856670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573166 S 6533 0 1 FMO9P IS33248 esv2639979 1 164817997 164819738 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293844 S 1 0 1 "" NA18507 esv2264278 1 164818021 164819352 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532821 S 1 0 1 "" NA18507 esv22499 1 164818207 164819426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20922 S 451 0 4 "" NA18502,NA18861,NA19099,NA19147 dgv403n71 1 164835532 164860307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872521,nsv872522 M 6533 0 2 FMO9P SP54490,SP56085 essv5010 1 164839877 164867410 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FMO9P NA18571 nsv519275 1 165025166 165033674 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655163,nssv673387,nssv691052,nssv689533,nssv661096,nssv698745,nssv671803 M 2026 0 7 "" esv2750815 1 165220490 165446966 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986157,essv6982401,essv6982400,essv6982399,essv6988531 M 771 1 0 DUSP27,GPA33,MAEL BEC_437 nsv528049 1 165270163 165276707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704581 S 2026 0 1 "" nsv519114 1 165270163 165281808 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696590 S 2026 1 0 "" esv2649114 1 165292131 165292546 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253996 S 1 1 0 GPA33 NA18507 esv1004965 1 165300680 165314560 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564875 S 3 0 1 GPA33 HuRef nsv3410 1 165365450 165396812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11119 S 9 1 0 "" NA15510 nsv509557 1 165400797 165446665 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617997,nssv623805,nssv621107,nssv619819 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv521232 1 165427583 165624185 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698681,nssv686755,nssv688320 M 2026 2 1 POU2F1 nsv3421 1 165430385 165459990 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9886,nssv7762,nssv10331,nssv3501,nssv2704 M 9 5 0 POU2F1 NA12156,NA12878,NA18507,NA18555,NA18956 nsv872523 1 165438195 165648998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560666 S 6533 0 1 POU2F1 MS24624 esv1008198 1 165438373 165442852 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565163 S 3 1 0 "" HuRef nsv831803 1 165451341 165632401 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451139 S 95 0 1 POU2F1 nsv831814 1 165616458 165826835 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451150 S 95 0 1 CD247,CREG1,POU2F1 nsv872524 1 165624185 165687049 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598636 S 6533 1 0 CD247,POU2F1 IS41105 nsv3432 1 165654727 165688501 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7770 S 9 1 0 CD247,POU2F1 NA12156 esv998064 1 165670770 165670868 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582383 S 3 0 1 CD247 HuRef esv1365494 1 165670806 165670905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197281 S 2 0 1 CD247 HuRef nsv528248 1 165674697 165698481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704814 S 2026 0 1 CD247 nsv528710 1 165704577 165836354 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705360 S 2026 1 0 CD247,CREG1 nsv528380 1 165737441 165742495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704969 S 2026 0 1 CD247 nsv161050 1 165771949 165772718 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179628 M 24 "" esv269029 1 165772691 165772919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510097,essv2496708,essv2503865,essv2496514,essv2503315,essv2494621,essv2497162,essv2497753,essv2508287,essv2499887,essv2504513,essv2507876,essv2506372,essv2500694,essv2500112,essv2512751,essv2508480,essv2508656,essv2510078,essv2499251,essv2501643,essv2507578,essv2511648,essv2511110,essv2497392,essv2500723,essv2498651,essv2511501,essv2504392,essv2513056 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA11829,NA11894,NA12761,NA18510,NA18542,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18573,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18940,NA18944,NA18959,NA18973,NA19138 nsv819670 1 165777414 165778114 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419063 S 2 0 1 CREG1 AK1 esv27585 1 165792653 165793593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20453 S 451 0 1 "" NA18907 esv27627 1 165802604 165803417 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20122 S 451 0 1 "" NA19099 esv268743 1 165979464 165979549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516691 S 157 1 0 Samples from several populations that are part of the HapMap project. MPZL1 NA11881 nsv523174 1 166026789 166031549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698886 S 2026 0 1 MPZL1 esv29497 1 166031981 166033855 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14109 S 451 0 3 "" NA11931,NA11993,NA11995 esv32660 1 166061707 166456848 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93891,essv100902,essv92865,essv99942,essv92600 M 51 0 5 ADCY10,BRP44,DCAF6,GPR161,TIPRL 21634,21656,21939,22086,22233 nsv527119 1 166086153 166088837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703502 S 2026 0 1 ADCY10 nsv464239 1 166092109 166143240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540184 S 1557 0 1 ADCY10 1780854016_A esv273284 1 166125087 166125569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580172,essv2580356 M 7 2 0 Samples from several populations that are part of the HapMap project. ADCY10 NA12878,NA12891 esv267723 1 166125283 166125368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516792,essv2514069,essv2518870,essv2518408 M 157 4 0 Samples from several populations that are part of the HapMap project. ADCY10 NA11881,NA12043,NA19239,NA19240 esv2572362 1 166165573 166166914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318478 S 1 0 1 BRP44 NA18507 nsv872525 1 166238647 166327813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592584 S 6533 1 0 DCAF6,GPR161 IS39243 esv2497978 1 166290444 166292856 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268928 S 1 0 1 DCAF6 NA18507 esv2312150 1 166291000 166292550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4561571 S 1 0 1 DCAF6 NA18507 esv8761 1 166291181 166292360 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31202 S 1 0 1 DCAF6 SJK esv996972 1 166291186 166292358 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569353 S 3 0 1 DCAF6 HuRef esv1732326 1 166291198 166292371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290313 S 2 0 1 DCAF6 HuRef nsv506964 1 166315290 166321290 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620670 S 4 1 0 GPR161 NA15510 nsv441719 1 166355739 166358038 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GPR161 nsv825309 1 166356665 166358054 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426423 S 31 0 1 GPR161 AK6 nsv872526 1 166409113 166505334 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582757 S 6533 1 0 ANKRD36BP1,SFT2D2,TIPRL IS36131 nsv831825 1 166445799 166619686 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451161,nssv1451184,nssv1451172 M 95 2 1 ANKRD36BP1,MIR557,SFT2D2,TBX19 esv21971 1 166555073 166556795 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11540 S 451 0 1 "" NA11995 nsv872527 1 166594179 166642597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557977 S 6533 0 1 LOC100505918,MIR557 MS23025 nsv818556 1 166604693 166609973 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417967 S 112 0 1 "" NA07357 nsv527576 1 166607891 166608490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704037 S 2026 0 1 "" dgv404n71 1 166608490 166650792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872528,nsv872529 M 6533 0 4 LOC100505918,MIR557 IS36882,IS37639,MS19587,MS22765 nsv512747 1 166630949 166631476 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625374 S 1 1 0 "" 1 esv2495811 1 166631133 166631540 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389957 S 1 1 0 "" NA18507 esv1678226 1 166631360 166631360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261545 S 2 1 0 "" HuRef esv998321 1 166643615 166647135 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563878 S 3 1 0 LOC100505918 HuRef esv2532981 1 166646182 166646606 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273350 S 1 1 0 LOC100505918 NA18507 nsv512748 1 166646259 166646489 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625375 S 1 1 0 LOC100505918 1 nsv506965 1 166685747 166691747 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620671,nssv623286 M 4 2 0 "" NA15510,NA18994 esv2500882 1 166692922 166696311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236152 S 1 0 1 "" NA18507 esv2188881 1 166693505 166695627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686840 S 1 0 1 "" NA18507 nsv512749 1 166707254 166708092 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625378 S 1 1 0 "" 1 esv1412395 1 166707923 166707923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830315 S 2 1 0 "" HuRef esv1377781 1 166707968 166707968 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784121 S 2 1 0 "" HuRef esv32664 1 166725196 166725905 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97969 S 51 0 1 "" 21837 nsv831836 1 166805403 166983580 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451195,nssv1451206 M 95 1 1 DPT,XCL1 esv26553 1 166838889 166841321 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19741 S 451 0 1 "" NA12489 nsv3443 1 166844206 166888929 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7779 S 9 0 1 "" NA12156 nsv872530 1 166885265 166925168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532720 S 6533 0 1 "" MS10818 nsv525556 1 166920481 166928976 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701695 S 2026 1 0 "" nsv819134 1 166924841 166925838 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419149 S 2 1 0 "" AK1 nsv831847 1 166936501 167116753 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451217 S 95 1 0 DPT,MGC4473 esv7719 1 167003395 167003489 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30160 S 1 1 0 "" SJK nsv464250 1 167039017 167092656 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540194 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00251 esv268799 1 167083564 167083725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501113,essv2505270 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18853 nsv528885 1 167087372 167092656 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705566 S 2026 0 1 "" nsv437258 1 167090735 167157044 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467139 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07348 nsv508043 1 167124767 167130767 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618512 S 4 0 1 "" CHM esv1381365 1 167264731 167264783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083882 S 2 0 1 "" HuRef nsv820513 1 167270761 167272006 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420736 S 1 0 1 "" NA10851 nsv825320 1 167270761 167272006 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424778,nssv1430379 M 31 0 2 "" AK16,AK2 nsv819267 1 167270838 167278445 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419833 S 2 1 0 "" AK1 dgv86n67 1 167270950 167271725 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825365,nsv825331 M 31 3 0 "" AK20,AK4,NA18947 dgv87n67 1 167270950 167271946 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825342,nsv825353 M 31 18 0 "" AK14,AK18,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18570,NA18582,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18999 esv22990 1 167270951 167271957 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11394 S 451 24 0 "" NA06985,NA11993,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv33957 1 167271199 167271734 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101181,essv95195,essv97876,essv95391,essv97292,essv101676,essv96190,essv96641,essv93445,essv93413,essv94917 M 51 0 11 "" 21618,21721,21837,21872,21879,21909,22007,22011,22128,22170,22231 nsv831858 1 167289007 167445692 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451228 S 95 1 0 ATP1B1,NME7 esv2147293 1 167291195 167291631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790257 S 1 0 1 "" NA18507 esv2459366 1 167325028 167326003 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224625 S 1 1 0 "" NA18507 esv1439397 1 167325607 167325607 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011483 S 2 1 0 "" HuRef nsv160013 1 167325608 167325608 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178591 M 24 "" esv22143 1 167326252 167887892 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10418,esv15526,esv17936 M 451 21 2 ATP1B1,BLZF1,C1orf114,F5,NME7,SELP,SLC19A2 NA07037,NA12004,NA12006,NA12156,NA12749,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv4017 1 167426581 167427114 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26458 S 1 0 1 Single Asian sample YH NME7 YH esv1001229 1 167426648 167426976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568362 S 3 0 1 NME7 HuRef esv1106459 1 167426661 167426990 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197163 S 2 0 1 NME7 HuRef esv5790 1 167426663 167426973 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28231 S 1 0 1 NME7 SJK nsv525520 1 167458484 167506708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701653 S 2026 0 1 NME7 nsv872531 1 167458484 167654817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548954,nssv1537798,nssv1544883,nssv1550609 M 6533 0 4 BLZF1,C1orf114,NME7 MS13363,MS16564,MS17958,MS18485 nsv508044 1 167462959 167468959 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624222,nssv622298 M 4 0 2 NME7 NA10860,NA18994 esv1007713 1 167481425 167520095 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586048 S 3 0 1 NME7 HuRef nsv508637 1 167481544 167534702 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618990 S 4 0 1 NME7 NA10860 nsv820717 1 167487042 167520752 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420747 S 1 0 1 NME7 NA10851 nsv825376 1 167487042 167521307 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428852,nssv1424372,nssv1439490,nssv1437975,nssv1435684,nssv1431110,nssv1421487,nssv1434204,nssv1426425,nssv1432419,nssv1423989 M 31 0 11 NME7 AK12,AK18,AK6,NA18537,NA18566,NA18570,NA18582,NA18947,NA18951,NA18972,NA18997 esv993090 1 167487482 167516026 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564771 S 3 0 1 NME7 HuRef nsv820118 1 167488547 167514350 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418702 S 2 1 0 NME7 AK1 esv2421693 1 167493526 167508390 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5100741,essv5113557,essv5156043,essv5045745,essv5022247,essv5092376,essv5098929,essv5050266,essv5086087,essv5019924,essv5073894,essv5067560,essv5043012,essv5123767,essv5087643,essv5096996,essv5055252,essv5089070,essv5045627,essv5149516,essv5057196,essv5117803,essv5035536,essv5112108,essv5104367,essv5094929,essv5033699,essv5074044,essv5099667,essv5052156,essv5141138,essv5151387,essv5026308,essv5143080,essv5138615,essv5060368,essv5035794,essv5023985,essv5157426,essv5026275,essv5158370,essv5038915,essv5021953,essv5069689,essv5042441,essv5156492,essv5140501,essv5068147,essv5153317,essv5068399,essv5037575,essv5007680,essv5117094,essv5042316,essv5015841,essv5048917,essv5139540,essv5132992,essv5017995,essv5026207,essv5015069,essv5006109,essv5036106,essv5138529,essv5134925,essv5096703,essv5030382,essv5002905,essv5152703,essv5054421,essv5056143,essv5081909,essv5160702,essv5067582,essv5129675,essv5003206,essv5105793,essv5122887,essv5119774,essv5154221,essv5120302,essv5031771,essv5014422,essv5077386,essv5009674,essv5123166,essv5060981,essv5094454,essv5077745,essv5122436,essv5075415,essv5012226,essv5108179,essv5153465,essv5075532,essv5139420,essv5148195,essv5078447,essv5081409,essv5118459,essv5060036,essv5149184,essv5136090,essv5027867,essv5069260,essv5009063,essv5140165,essv5118596,essv5011332,essv5060193,essv5108979,essv5058081,essv5005312,essv5026234,essv5082837,essv5089498,essv5085043,essv5086920,essv5131805,essv5019089,essv5034350,essv5098574,essv5084447,essv5063912,essv5043201,essv5078679,essv5044137,essv5005601,essv5025888,essv5066419,essv5054314,essv5158339,essv5031588,essv5038630,essv5114122,essv5007493,essv5067919,essv5119387,essv5087875,essv5130346,essv5002264,essv5057564,essv5100871,essv5115477,essv5080013,essv5002413,essv5099902,essv5111736,essv5033410,essv5155642,essv5089783,essv5052146,essv5077548,essv5127681,essv5008498,essv5124496,essv5114383,essv5118477,essv5088954,essv5043491,essv5050259,essv5054036,essv5007041,essv5109452,essv5126472,essv5107318,essv5047583,essv5089570,essv5120977,essv5031124,essv5131958,essv5007371,essv5080296,essv5013563,essv5159670,essv5096063,essv5149991,essv5148450,essv5104300,essv5027227,essv5139423,essv5083972,essv5054273,essv5110896,essv5040184,essv5001897,essv5126340,essv5148489,essv5147575,essv5088716,essv5138268,essv5145391,essv5136535,essv5047500,essv5012180,essv5025795,essv5065044,essv5142416,essv5082497,essv5035609,essv5020799,essv5011261,essv5058515,essv5147507,essv5157781,essv5056689,essv5009220,essv5147493,essv5074104,essv5102410,essv5094030,essv5143236,essv5037904,essv5140432,essv5110213,essv5077829,essv5112957,essv5060510,essv5055608,essv5091004,essv5107541,essv5048574,essv5009588,essv5146772,essv5038682,essv5067124,essv5043655,essv5136549,essv5004321,essv5116313,essv5134479,essv5138540,essv5092776,essv5040426,essv5117771,essv5033104,essv5139505,essv5116360,essv5130339,essv5146532,essv5130175,essv5078500,essv5034873,essv5017596,essv5134904,essv5092963,essv5088891,essv5098084,essv5089871,essv5071398,essv5057106,essv5159570,essv5157855,essv5094302,essv5007360,essv5097366,essv5020493,essv5012251,essv5095828,essv5157966,essv5034902,essv5011304,essv5052324,essv5016204,essv5152177,essv5142911,essv5153746,essv5146776,essv5006394,essv5078251,essv5140364,essv5076606,essv5159600,essv5068971,essv5083868,essv5118009,essv5059590,essv5114797,essv5033643,essv5100991,essv5018557,essv5140250,essv5062751,essv5081410,essv5105923,essv5002683,essv5055286,essv5103402,essv5005616,essv5144981,essv5138750,essv5025364,essv5148086,essv5044443,essv5039862,essv5048670,essv5056560,essv5051416,essv5114033,essv5080919,essv5127833,essv5160267,essv5049482,essv5033522,essv5090395,essv5100296,essv5113559,essv5143857,essv5007207,essv5057035,essv5091806,essv5012071,essv5093659,essv5113052,essv5080030,essv5032270,essv5142180,essv5003232,essv5068534,essv5093520,essv5092187,essv5040078,essv5008299,essv5043247,essv5029172,essv5014820,essv5105016,essv5148120,essv5136539,essv5020781,essv5091816,essv5086557,essv5106737,essv5052881,essv5092929,essv5037514,essv5135656,essv5024789,essv5024019,essv5005298,essv5038143,essv5160235,essv5103891,essv5039159,essv5146602,essv5141293,essv5028986,essv5137938,essv5159809,essv5038476,essv5035176,essv5109262,essv5145015,essv5078881,essv5106049,essv5114935,essv5023113,essv5032013,essv5095292,essv5111298,essv5151894,essv5159351,essv5075621,essv5096368,essv5067111,essv5127813,essv5083494,essv5112249,essv5012228,essv5001916,essv5019790,essv5069055,essv5157473,essv5042710,essv5126459,essv5086798,essv5023578,essv5109893,essv5142074,essv5099269,essv5072082,essv5095449,essv5098839,essv5150341,essv5097309,essv5071550,essv5154437,essv5097720,essv5046489,essv5076200,essv5081448,essv5060342,essv5017021,essv5102616,essv5076354,essv5045426,essv5014421,essv5072762,essv5015747,essv5101208,essv5003743,essv5040979,essv5015425,essv5032292,essv5058004,essv5041294,essv5133658,essv5144038,essv5034443,essv5057761,essv5159213,essv5028934,essv5142812 M 1184 0 413 NME7 NA06984,NA06985,NA06986,NA06989,NA06991,NA07000,NA07014,NA07022,NA07029,NA07045,NA07051,NA07055,NA07346,NA07347,NA07349,NA10830,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10850,NA10853,NA10855,NA10856,NA10861,NA10864,NA11829,NA11830,NA11831,NA11832,NA11843,NA11881,NA11891,NA11892,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11993,NA11994,NA11995,NA12003,NA12006,NA12044,NA12045,NA12057,NA12154,NA12234,NA12239,NA12248,NA12264,NA12272,NA12273,NA12275,NA12282,NA12287,NA12340,NA12343,NA12344,NA12347,NA12375,NA12376,NA12383,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12740,NA12751,NA12752,NA12760,NA12776,NA12777,NA12778,NA12813,NA12827,NA12828,NA12830,NA12832,NA12842,NA12843,NA12865,NA12875,NA12877,NA12889,NA12890,NA12892,NA17962,NA17982,NA17989,NA17996,NA17997,NA18102,NA18120,NA18125,NA18128,NA18132,NA18135,NA18136,NA18148,NA18150,NA18155,NA18497,NA18498,NA18536,NA18537,NA18546,NA18555,NA18557,NA18559,NA18566,NA18570,NA18571,NA18576,NA18582,NA18593,NA18605,NA18614,NA18617,NA18619,NA18627,NA18631,NA18632,NA18633,NA18634,NA18635,NA18640,NA18647,NA18694,NA18696,NA18702,NA18747,NA18853,NA18854,NA18862,NA18863,NA18868,NA18869,NA18870,NA18872,NA18909,NA18911,NA18940,NA18945,NA18947,NA18948,NA18951,NA18962,NA18963,NA18966,NA18980,NA18997,NA18998,NA19046,NA19054,NA19065,NA19068,NA19070,NA19075,NA19107,NA19109,NA19119,NA19137,NA19144,NA19150,NA19151,NA19159,NA19172,NA19173,NA19185,NA19186,NA19224,NA19225,NA19307,NA19308,NA19313,NA19324,NA19327,NA19332,NA19350,NA19360,NA19372,NA19373,NA19374,NA19375,NA19377,NA19379,NA19385,NA19429,NA19445,NA19449,NA19451,NA19452,NA19471,NA19649,NA19650,NA19658,NA19660,NA19661,NA19662,NA19664,NA19665,NA19669,NA19676,NA19679,NA19682,NA19685,NA19686,NA19700,NA19719,NA19721,NA19722,NA19724,NA19749,NA19751,NA19760,NA19761,NA19763,NA19777,NA19779,NA19788,NA19789,NA19790,NA19795,NA19818,NA19819,NA19835,NA19904,NA19909,NA19917,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20284,NA20289,NA20290,NA20322,NA20340,NA20342,NA20505,NA20509,NA20510,NA20517,NA20519,NA20520,NA20521,NA20524,NA20527,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20588,NA20589,NA20752,NA20754,NA20755,NA20757,NA20758,NA20761,NA20765,NA20769,NA20771,NA20772,NA20773,NA20787,NA20790,NA20796,NA20797,NA20799,NA20800,NA20801,NA20804,NA20806,NA20808,NA20809,NA20812,NA20819,NA20828,NA20845,NA20846,NA20847,NA20850,NA20852,NA20853,NA20859,NA20861,NA20866,NA20871,NA20879,NA20884,NA20889,NA20896,NA20897,NA20902,NA20906,NA20908,NA21090,NA21091,NA21097,NA21101,NA21103,NA21105,NA21107,NA21113,NA21115,NA21117,NA21118,NA21119,NA21125,NA21143,NA21144,NA21297,NA21302,NA21303,NA21308,NA21309,NA21313,NA21316,NA21317,NA21333,NA21336,NA21339,NA21344,NA21353,NA21362,NA21363,NA21365,NA21368,NA21379,NA21381,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21391,NA21399,NA21403,NA21404,NA21408,NA21418,NA21420,NA21436,NA21438,NA21440,NA21441,NA21442,NA21454,NA21455,NA21457,NA21473,NA21478,NA21479,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21512,NA21513,NA21514,NA21517,NA21520,NA21526,NA21527,NA21528,NA21574,NA21578,NA21580,NA21583,NA21597,NA21608,NA21614,NA21615,NA21619,NA21620,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21683,NA21686,NA21689,NA21693,NA21719,NA21722,NA21768,NA21826 nsv511149 1 167493551 167514903 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625989 S 1 0 1 NME7 1 nsv825387 1 167493568 167508098 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434895,nssv1440159,nssv1423786,nssv1422399,nssv1437918,nssv1436366,nssv1427292,nssv1440846,nssv1438613,nssv1437253,nssv1429593,nssv1433455,nssv1430380 M 31 13 0 NME7 AK14,AK16,AK8,NA18526,NA18542,NA18547,NA18552,NA18564,NA18942,NA18949,NA18968,NA18969,NA18973 nsv825398 1 167493568 167520752 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434407,nssv1423161 M 31 2 0 NME7 NA18592,NA18999 esv32640 1 167493797 167507911 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101129,essv93901,essv100688,essv96792,essv101049,essv95107,essv94069,essv94327,essv97041,essv97793,essv95390,essv94482,essv92687,essv96593,essv97081,essv98618,essv99976,essv96000,essv93277,essv94861,essv92535,essv96508,essv100551,essv100330,essv99505,essv96347,essv94161 M 51 19 8 NME7 21618,21634,21656,21659,21693,21721,21802,21808,21817,21837,21872,21932,21944,22011,22075,22085,22086,22127,22170,22231,22233,22261,22298,22300,22335,22371,22394 nsv514015 1 167495760 167507888 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627792 S 1414 0 1 NME7 dgv42n27 1 167495768 167506708 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465016,nsv464728,nsv464894,nsv464805,nsv464461,nsv464905,nsv464383,nsv465206,nsv465195,nsv464938,nsv465005,nsv465395,nsv465350,nsv465261,nsv464839,nsv464439,nsv465372,nsv465317,nsv465439,nsv465517,nsv464661,nsv465250,nsv464395,nsv464816,nsv465062,nsv465038,nsv464450,nsv464306,nsv465572,nsv464528,nsv465161,nsv465483,nsv464716,nsv465272,nsv465339,nsv464994,nsv464295,nsv465406,nsv464428,nsv465228,nsv464350,nsv464417,nsv464983,nsv464872,nsv464694,nsv465550,nsv464605,nsv465328,nsv464539,nsv464506,nsv465239,nsv465528,nsv465450,nsv464572,nsv465073,nsv464372,nsv464361,nsv465472,nsv465084,nsv464650,nsv465217,nsv464594,nsv465561,nsv464472,nsv465284,nsv465617,nsv464739,nsv464517,nsv464261,nsv464583,nsv465583,nsv464961,nsv464705,nsv465428,nsv464772,nsv465049,nsv465027,nsv464284,nsv465117,nsv464850,nsv464639,nsv465383,nsv465295,nsv465494,nsv465506,nsv465184,nsv464883,nsv465139,nsv464950,nsv465150,nsv464794,nsv465106,nsv465306,nsv464972,nsv465095,nsv464683,nsv464317,nsv464406,nsv465539,nsv464761,nsv465173,nsv464328,nsv465417,nsv464927,nsv464339,nsv464628,nsv465361,nsv464561,nsv465605,nsv464861,nsv464783,nsv464672,nsv464827,nsv464750,nsv464483,nsv464550,nsv464494,nsv464617,nsv464272,nsv465461,nsv465128,nsv465594,nsv464916 M 1557 0 123 NME7 1780846004_A,1780854130_A,1780854293_A,1780854295_A,1780854326_A,1780854328_A,1780854401_A,1780854437_A,1780854467_A,1780854487_A,1780854496_A,1780854537_A,1780854556_A,1780854573_A,1780862123_A,1780862165_A,1780862225_A,1780862301_A,1780862347_A,1780862366_A,1780862372_A,1780862386_A,1780862388_A,1780862390_A,1780862452_A,1780862480_A,1780862516_A,1780862532_A,1780862575_A,1780862584_A,1782681109_A,1782681117_A,1782681210_A,1782681275_A,1782681329_A,1787431197_A,1788485589_A,1798860186_A,1798860292_A,1798860336_A,1798860491_A,1798860570_A,HGDP00064,HGDP00074,HGDP00234,HGDP00281,HGDP00304,HGDP00313,HGDP00514,HGDP00518,HGDP00521,HGDP00524,HGDP00534,HGDP00561,HGDP00578,HGDP00591,HGDP00612,HGDP00618,HGDP00662,HGDP00663,HGDP00669,HGDP00670,HGDP00686,HGDP00714,HGDP00729,HGDP00731,HGDP00746,HGDP00769,HGDP00777,HGDP00779,HGDP00786,HGDP00808,HGDP00891,HGDP01063,HGDP01064,HGDP01069,HGDP01077,HGDP01166,HGDP01171,HGDP01256,HGDP01257,HGDP01360,HGDP01362,HGDP01369,HGDP01372,HGDP01378,HGDP01383,HGDP01386,NINDS_105,NINDS_109,NINDS_112,NINDS_117,NINDS_123,NINDS_127,NINDS_13,NINDS_149,NINDS_158,NINDS_159,NINDS_16,NINDS_190,NINDS_194,NINDS_199,NINDS_206,NINDS_208,NINDS_209,NINDS_213,NINDS_215,NINDS_218,NINDS_222,NINDS_227,NINDS_236,NINDS_258,NINDS_29,NINDS_33,NINDS_37,NINDS_43,NINDS_45,NINDS_57,NINDS_60,NINDS_64,NINDS_71,NINDS_91,NINDS_95 nsv515530 1 167495768 167506708 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668397,nssv679369,nssv683098,nssv682635,nssv675687,nssv666711,nssv664801,nssv675864,nssv671073,nssv685021,nssv691709,nssv677316,nssv685015,nssv682251,nssv655704,nssv685975,nssv662726,nssv689716,nssv668751,nssv671537,nssv654514,nssv660860,nssv702513,nssv692463,nssv655254,nssv686412,nssv677710,nssv691816,nssv690231,nssv656506,nssv688735,nssv652003,nssv653713,nssv675880,nssv688389,nssv666687,nssv674451,nssv657016,nssv685413,nssv678769,nssv662743,nssv687356,nssv659238,nssv688541,nssv682162,nssv670901,nssv691790,nssv686126,nssv658989,nssv668119,nssv654600,nssv652738,nssv689446,nssv686970,nssv661395,nssv651820,nssv659863,nssv684963,nssv659652,nssv687120,nssv652417,nssv663346,nssv669005,nssv676440,nssv667193,nssv681591,nssv684538,nssv667019,nssv677293,nssv682621,nssv676802,nssv684497,nssv656992,nssv663826,nssv667672,nssv673234,nssv679182,nssv660505,nssv657178,nssv655850,nssv652882,nssv676334,nssv661555,nssv672694,nssv689837,nssv689120,nssv691958,nssv663101,nssv687066,nssv677976,nssv688599,nssv680871,nssv687658,nssv687746,nssv685612,nssv677803,nssv691053,nssv655164,nssv678580,nssv669058,nssv669575,nssv658162,nssv656110,nssv684588,nssv653743,nssv683529,nssv693003,nssv651666,nssv670336,nssv693250,nssv686286,nssv664097,nssv666730,nssv673120,nssv689998,nssv672942,nssv681184,nssv663036,nssv687712,nssv684989,nssv660749,nssv654839,nssv652787,nssv660983,nssv652611,nssv657678,nssv680831,nssv659122,nssv687859,nssv671164,nssv678312,nssv687737,nssv652390,nssv677209,nssv669525,nssv660237,nssv652702,nssv688949,nssv693674,nssv674729,nssv685138,nssv693539,nssv652232,nssv674267,nssv653613,nssv665075,nssv662672,nssv692185,nssv683770,nssv678344,nssv689644,nssv672222,nssv656157,nssv653915,nssv663636,nssv679607,nssv676836,nssv687239,nssv682833,nssv666960,nssv652211,nssv664518,nssv660448,nssv668238,nssv663917,nssv680224,nssv653106,nssv684189,nssv665511,nssv684061,nssv667834,nssv678548,nssv655822,nssv659046,nssv684813,nssv690993,nssv685595,nssv675012,nssv678630,nssv693592,nssv688807,nssv684663,nssv666310,nssv668769,nssv690695,nssv660950,nssv670194,nssv668799,nssv661117,nssv672435,nssv676137,nssv667541,nssv682013,nssv653421,nssv651689,nssv676889,nssv658086,nssv655494,nssv658782,nssv683254,nssv679936,nssv674737,nssv689882,nssv665284,nssv668434,nssv663367,nssv668342,nssv675853,nssv655835,nssv673629,nssv666581,nssv677419,nssv664212,nssv683457,nssv652058,nssv671886,nssv663142,nssv657228,nssv657856,nssv663534,nssv652501,nssv675399,nssv670358,nssv660726,nssv691615,nssv652975,nssv666090,nssv671823,nssv665681,nssv666245,nssv672841,nssv664602,nssv683733,nssv689086,nssv657522,nssv673106,nssv666985,nssv657649,nssv693179,nssv664496,nssv682310,nssv676368,nssv661647,nssv680547,nssv684517,nssv675485 M 2026 3 243 NME7 nsv818567 1 167495768 167506708 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417000,nssv1416516,nssv1418530,nssv1416218,nssv1416526,nssv1417817,nssv1418103,nssv1415738,nssv1415935,nssv1418529,nssv1418214,nssv1417818,nssv1416999,nssv1416027,nssv1416528,nssv1416525,nssv1417222,nssv1418042,nssv1415736,nssv1418341,nssv1418531,nssv1417139,nssv1417150,nssv1417409,nssv1417128,nssv1416505,nssv1416026,nssv1416121,nssv1415934,nssv1415737,nssv1418342,nssv1416122,nssv1416219 M 112 6 27 NME7 NA06985,NA06991,NA07000,NA07029,NA10830,NA10851,NA10857,NA10863,NA11881,NA12044,NA12057,NA12146,NA12154,NA12234,NA12236,NA12239,NA12264,NA12740,NA12751,NA12812,NA12813,NA12865,NA12874,NA12875,NA12891,NA12892,NA18576,NA18853,NA18854,NA18951,NA19171,NA19172,NA19173 nsv442352 1 167500598 167508390 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NME7 nsv872532 1 167542254 167629827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535988 S 6533 0 1 BLZF1,NME7 MS12577 esv1514014 1 167578517 167578701 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157142 S 2 0 1 NME7 HuRef esv33347 1 167584400 167584671 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93884,essv95151,essv94552 M 51 0 3 NME7 21634,21721,21932 nsv831871 1 167587297 167753304 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451239 S 95 0 1 BLZF1,C1orf114,F5,NME7,SLC19A2 esv1749280 1 167590828 167590913 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050600 S 2 0 1 NME7 HuRef esv1584020 1 167591117 167591117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342456 S 2 1 0 NME7 HuRef nsv159064 1 167591118 167591118 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177642 M 24 NME7 esv270955 1 167605601 167605929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557479,essv2552693,essv2578543,essv2527047,essv2530283,essv2568737,essv2560500,essv2571307,essv2545850,essv2574316 M 157 10 0 Samples from several populations that are part of the HapMap project. BLZF1 NA18499,NA18502,NA18510,NA18522,NA19141,NA19147,NA19190,NA19238,NA19239,NA19240 esv273425 1 167605602 167605930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584209,essv2584503,essv2583729 M 7 3 0 Samples from several populations that are part of the HapMap project. BLZF1 NA19238,NA19239,NA19240 esv268075 1 167709557 167709894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515801,essv2513771 M 157 2 0 Samples from several populations that are part of the HapMap project. SLC19A2 NA18969,NA19143 esv1979081 1 167738461 167738830 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513248 S 1 0 1 "" NA18507 esv1533539 1 167738642 167738743 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207861 S 2 0 1 "" HuRef nsv872533 1 167757025 167775200 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503531 S 6533 1 0 F5 SP52077 esv2518089 1 167790961 167791916 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284643 S 1 1 0 F5 NA18507 esv272697 1 167791456 167792144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579983,essv2580940,essv2579434 M 7 3 0 Samples from several populations that are part of the HapMap project. F5 NA12892,NA19238,NA19240 esv270550 1 167791473 167792164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565604,essv2540821,essv2521123,essv2526126,essv2545397,essv2570614,essv2544499,essv2552307,essv2547325,essv2577914,essv2540126,essv2520898,essv2557538,essv2552495,essv2551771,essv2532230,essv2569442,essv2550226,essv2558913,essv2536892,essv2539120,essv2569858,essv2527079,essv2561457,essv2523912,essv2552853,essv2541412,essv2542883,essv2540429,essv2524711,essv2564906,essv2534531,essv2561207,essv2539552,essv2549306,essv2519864,essv2560096,essv2522160,essv2566275,essv2530991,essv2532736,essv2567871,essv2528820,essv2567418,essv2541642,essv2570282,essv2563590,essv2553212,essv2535527,essv2572525,essv2566686,essv2542076,essv2551101,essv2543794,essv2527825,essv2562348,essv2539461,essv2533945,essv2578277,essv2555234,essv2533621,essv2555506,essv2527617,essv2557615,essv2555949,essv2534308,essv2522357,essv2531286,essv2573359,essv2543040,essv2525773,essv2529472,essv2575266,essv2538645,essv2526713,essv2560719,essv2524111,essv2560917,essv2574790,essv2568565,essv2545205,essv2548152,essv2549941,essv2571335,essv2546080,essv2574205,essv2551393,essv2537767,essv2554626,essv2547694,essv2557967 M 157 91 0 Samples from several populations that are part of the HapMap project. F5 NA07000,NA07346,NA07347,NA10851,NA11829,NA11831,NA11894,NA11918,NA12003,NA12044,NA12414,NA12489,NA12717,NA12761,NA18489,NA18498,NA18499,NA18502,NA18504,NA18505,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19093,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19147,NA19172,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 nsv872534 1 167799890 167827898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514499 S 6533 0 1 F5,SELP SP56007 nsv872535 1 167802542 167805466 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504703 S 6533 1 0 F5 SP52708 dgv405n71 1 167805090 167814234 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872537,nsv872536 M 6533 0 2 F5 SP52708,SP54442 nsv872538 1 167834140 167842831 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503532 S 6533 1 0 SELP SP52077 nsv517483 1 167843192 167847882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652156,nssv687920,nssv664245,nssv659831,nssv682474,nssv693364 M 2026 0 6 SELP esv2516985 1 167856983 167857290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368119 S 1 0 1 SELP NA18507 nsv159209 1 167874342 167880013 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177787 M 24 "" nsv872539 1 167925210 167941214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504677 S 6533 0 1 SELL SP52708 nsv819234 1 167926518 167926725 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419170 S 2 1 0 SELL AK1 nsv872540 1 167933979 167937712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505135 S 6533 0 1 SELL SP53242 nsv872541 1 167938984 167962439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517400 S 6533 0 1 SELE,SELL SP57270 dgv146e1 1 168048630 168151810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13567,essv1909,essv267,essv3072,essv23,essv14651,essv14880,essv1248,essv2467,essv4603,essv12699,essv2533,essv835,essv22553,essv1345,essv6164,essv6676,essv15242,essv23242,essv10019,essv4422,essv8834,essv8640,essv13156,essv7217,essv2808,essv337,essv16143,essv17078,essv13660,essv4169,essv2609,essv4896,essv6773,essv8199,essv23508,essv5323,essv7581,essv14145,essv22964,essv5788,essv19671,essv6625,essv8445,essv24423,essv24905,essv23424,essv9238,essv5537,essv15069,essv22777,essv4719,essv20003,essv14304,essv5051,essv4835,essv18188,essv10199,essv8918,essv13094,essv643,essv11536,essv16557,essv19456,esv157,essv4961,essv20948,essv5192,essv13927,essv10887,essv23086,essv17290,essv16342,essv13448,essv14408,essv14123,essv15314,essv11221,essv16278,essv21198,essv10120,essv15825,essv17742,essv9703,essv7383,essv18709,essv2347,essv17130,essv4277,essv10387,essv1444,essv1745,essv22361,essv12654,essv3407,essv22820,essv5276,essv20611,essv11136,essv238,essv14759,essv2079,essv458,essv2838,essv16005,essv11622,essv11892,essv20199,essv11944,essv12489,essv2629,essv170,essv15508,essv14513,essv4802,essv10264,essv21271 M 271 0 0 C1orf112,SCYL3 NA06994,NA07019,NA07029,NA07034,NA07048,NA07056,NA07348,NA07357,NA10831,NA10854,NA10855,NA11830,NA11832,NA11840,NA12004,NA12057,NA12264,NA12707,NA12801,NA12812,NA12874,NA12875,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18516,NA18522,NA18524,NA18529,NA18532,NA18540,NA18545,NA18547,NA18555,NA18561,NA18562,NA18563,NA18566,NA18573,NA18576,NA18603,NA18608,NA18611,NA18620,NA18621,NA18622,NA18623,NA18624,NA18637,NA18852,NA18854,NA18856,NA18861,NA18862,NA18913,NA18914,NA18940,NA18944,NA18945,NA18948,NA18949,NA18952,NA18953,NA18967,NA18968,NA18971,NA18973,NA18975,NA18976,NA18978,NA18981,NA18987,NA18990,NA18991,NA18995,NA18997,NA18999,NA19003,NA19007,NA19093,NA19094,NA19099,NA19100,NA19102,NA19116,NA19119,NA19128,NA19129,NA19130,NA19140,NA19152,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19202,NA19204,NA19207,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19239 nsv428268 1 168048630 168151810 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452420,nssv452409,nssv452465,nssv452520,nssv452341,nssv452476,nssv452487,nssv452498,nssv452354,nssv452509,nssv452442,nssv452453,nssv452431,nssv452398,nssv452387,nssv452376,nssv452531,nssv452365 M 62 3 15 C1orf112,SCYL3 HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00476,HGDP00984,HGDP01086,HGDP01088,HGDP01089,HGDP01093,NA18498,NA19096,NA19113,NA19147,NA19181,NA19225 nsv872542 1 168069384 168110717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563968 S 6533 1 0 C1orf112,SCYL3 IS30139 esv8223 1 168129750 168129874 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30664 S 1 1 0 "" SJK esv2430109 1 168164280 168165634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315942 S 1 0 1 KIFAP3 NA18507 nsv433500 1 168237446 168245725 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463381 S 9 0 1 Samples from several populations that are part of the HapMap project. KIFAP3 NA18956 esv271754 1 168241716 168242456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514399 S 157 1 0 Samples from several populations that are part of the HapMap project. KIFAP3 NA12874 esv990262 1 168368723 168368723 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566508 S 3 1 0 "" HuRef nsv160809 1 168368725 168368725 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179387 M 24 "" nsv3454 1 168401504 168416071 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7785 S 9 0 1 METTL11B NA12156 nsv872543 1 168437707 168941527 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525059 S 6533 1 0 GORAB,LOC284688,PRRX1 SP55473 nsv527360 1 168489974 168494919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703790 S 2026 0 1 "" dgv147e1 1 168581705 168653955 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13980,essv13306,essv13121 M 271 0 0 "" NA18859,NA19098,NA19202 dgv148e1 1 168581705 168679916 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv985,essv13274 M 271 0 0 "" NA19201 nsv437269 1 168609913 168627796 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467150 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10857 nsv441720 1 168634270 168653829 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514018 1 168634288 168652768 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627803 S 1414 0 1 "" nsv517083 1 168638027 168647104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652418,nssv666937,nssv692344,nssv673960,nssv653760 M 2026 0 5 "" nsv3465 1 168661919 168688587 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7115 S 9 1 0 "" NA12156 esv2534255 1 168737308 168738962 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216252 S 1 0 1 "" NA18507 nsv3476 1 168769908 168803593 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4807 S 9 1 0 GORAB NA19129 esv2467625 1 168869543 168870583 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373091 S 1 1 0 "" NA18507 esv267559 1 168870036 168870378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514653,essv2517060,essv2515432,essv2518451,essv2516391,essv2515729,essv2518156,essv2517732,essv2517333,essv2519385,essv2513650 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11931,NA12249,NA12287,NA12814,NA12815,NA12872,NA12878,NA18970 esv272228 1 168870036 168870378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581468 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2487683 1 168887475 168889056 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263446 S 1 0 1 "" NA18507 esv27783 1 168891688 168908014 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17612 S 451 1 0 PRRX1 NA12156 esv272357 1 168917840 168918220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579144,essv2579697 M 7 2 0 Samples from several populations that are part of the HapMap project. PRRX1 NA19239,NA19240 esv269344 1 168918020 168918177 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500876,essv2503228,essv2496657,essv2506783,essv2500201,essv2499423,essv2508052,essv2501692,essv2505508,essv2502879,essv2508395,essv2507711,essv2493394,essv2505017,essv2509949,essv2508738,essv2500042,essv2507419,essv2511652,essv2497852,essv2501431,essv2509639,essv2511957,essv2497989,essv2495803 M 157 25 0 Samples from several populations that are part of the HapMap project. PRRX1 NA07000,NA11830,NA11881,NA11894,NA11918,NA12006,NA12044,NA12045,NA12144,NA12154,NA12156,NA12749,NA12751,NA12776,NA12828,NA18508,NA18532,NA18558,NA18912,NA18940,NA18945,NA19093,NA19129,NA19238,NA19240 esv274409 1 169230647 169230982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582224,essv2582361 M 7 2 0 Samples from several populations that are part of the HapMap project. C1orf129 NA12878,NA12891 esv271362 1 169230647 169230986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517496,essv2515660,essv2515931,essv2517723,essv2516220 M 157 5 0 Samples from several populations that are part of the HapMap project. C1orf129 NA11918,NA12815,NA12873,NA12878,NA12891 nsv3487 1 169234862 169239597 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7801 S 9 1 0 C1orf129 NA12156 esv28731 1 169282710 169993584 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13592,esv10193,esv14617,esv12447 M 451 3 1 C1orf129,FMO1,FMO2,FMO3,FMO4,FMO6P,MIR1295,MYOC,PRRC2C,TOP1P1,VAMP4 NA07045,NA12156,NA18916,NA19114 nsv831882 1 169432848 169592707 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451250 S 95 0 1 FMO1,FMO2,FMO4,TOP1P1 esv2090208 1 169446428 169446777 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619517 S 1 0 1 FMO2 NA18507 esv1702263 1 169446542 169446624 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876319 S 2 0 1 FMO2 HuRef esv259635 1 169447217 169447625 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393760,essv2394341 M 6 0 0 Samples from several populations that are part of the HapMap project. FMO2 NA19238,NA19240 esv33004 1 169521768 169522090 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99360 S 51 1 0 "" 22275 nsv527149 1 169565564 169566972 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703539 S 2026 1 0 FMO4 esv271249 1 169624900 169624985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516797 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 nsv470745 1 169648370 169676138 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547785 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 nsv465628 1 169648370 169676139 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541402 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 nsv524551 1 169674385 169677156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700502 S 2026 0 1 "" nsv508045 1 169684074 169690074 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618513 S 4 0 1 "" CHM nsv508046 1 169703018 169709018 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622299 S 4 0 1 "" NA10860 esv2230348 1 169723591 169724023 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693220 S 1 0 1 PRRC2C NA18507 nsv465639 1 169726131 169811675 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541409 S 1557 0 1 PRRC2C 1780862355_A nsv3498 1 169780508 169813955 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv305 S 9 1 0 PRRC2C NA19240 nsv528322 1 169845155 169878890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704903 S 2026 0 1 MYOC nsv872544 1 169883445 169921591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576160 S 6533 1 0 MYOC IS33890 nsv3509 1 169957341 169991778 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv314 S 9 1 0 VAMP4 NA19240 nsv872545 1 170001821 170072071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553929 S 6533 0 1 METTL13 MS20440 nsv522889 1 170016288 170021694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698547 S 2026 0 1 METTL13 nsv518222 1 170019662 170030172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695646 S 2026 0 1 METTL13 esv5613 1 170029065 170029163 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28054 S 1 1 0 METTL13 SJK nsv160770 1 170068305 170068305 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179348 M 24 "" nsv831893 1 170069073 170251623 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451261 S 95 0 1 DNM3 nsv3521 1 170107439 170141052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2709 S 9 1 0 DNM3 NA18555 esv2615149 1 170252587 170254094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331961 S 1 0 1 DNM3 NA18507 esv275460 1 170262829 170267649 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586000 S 1250 0 1 DNM3 nsv3532 1 170264074 170308974 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7807 S 9 0 1 DNM3 NA12156 nsv508047 1 170422888 170428888 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624223,nssv618514 M 4 0 2 DNM3 CHM,NA18994 nsv465650 1 170441738 170513750 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541416 S 1557 0 1 DNM3 NINDS_147 nsv872546 1 170452944 170486618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513474 S 6533 0 1 DNM3 SP55787 nsv3543 1 170590186 170601209 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7816 S 9 0 1 DNM3 NA12156 esv7885 1 170775308 170775731 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30326 S 1 0 1 C1orf9 SJK nsv3554 1 170775883 170809554 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4815 S 9 1 0 C1orf9 NA19129 dgv406n71 1 170778592 170818347 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872547,nsv872548 M 6533 0 2 C1orf9 SP56004,SP57469 esv9065 1 170903423 170903500 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31506 S 1 1 0 "" SJK esv1109436 1 170929918 170929918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315109 S 2 1 0 "" HuRef nsv825409 1 170945527 170946372 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434205 S 31 1 0 "" NA18570 esv2565396 1 170952066 170953450 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236779 S 1 0 1 "" NA18507 nsv7185 1 170952312 170991363 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3511 S 9 0 0 "" NA12878 esv2127331 1 170952606 170953295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941988 S 1 0 1 "" NA18507 nsv3565 1 170966025 170977777 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4834 S 9 1 0 "" NA19129 nsv3576 1 171011321 171044764 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv323 S 9 1 0 "" NA19240 esv28695 1 171025949 171028597 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16936 S 451 0 1 "" NA18505 nsv159827 1 171075068 171076391 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178405 M 24 "" esv2636908 1 171094357 171095823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258662 S 1 0 1 "" NA18507 nsv3587 1 171103573 171148841 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7825 S 9 0 1 "" NA12156 esv269414 1 171124196 171127369 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513979 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv831904 1 171178733 171337052 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451283,nssv1451272 M 95 1 1 TNFSF18 esv21812 1 171350367 171351575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11499 S 451 0 1 "" NA18916 nsv831915 1 171535047 171748780 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451417,nssv1451339,nssv1451439,nssv1451450,nssv1451350,nssv1451461,nssv1451383,nssv1451361,nssv1451428,nssv1451295,nssv1451317,nssv1451328,nssv1451406,nssv1451372,nssv1451394,nssv1451306 M 95 5 11 LOC100506023,PRDX6,SLC9A11 nsv523009 1 171572255 171590919 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698682 S 2026 1 0 LOC100506023 nsv872549 1 171776209 171813458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519765 S 6533 1 0 SLC9A11 SP50544 nsv3598 1 171959650 172005310 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7123 S 9 0 1 KLHL20 NA12156 nsv831926 1 171969026 172161290 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451483,nssv1451472 M 95 1 1 CENPL,DARS2,GAS5,KLHL20,LOC100506046,SERPINC1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 nsv825420 1 172010192 172011058 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436367 S 31 0 1 KLHL20 NA18542 dgv149e1 1 172077265 172222566 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10742,esv155 M 271 0 0 DARS2,GAS5,LOC100506046,RC3H1,SERPINC1,SNORD44,SNORD47,SNORD74,SNORD75,SNORD76,SNORD77,SNORD78,SNORD79,SNORD80,SNORD81,ZBTB37 NA18523 nsv8535 1 172130609 172133423 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26548 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv872550 1 172180427 172230829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507185 S 6533 0 1 RC3H1 SP54490 nsv872551 1 172180427 172292283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499691 S 6533 0 1 RC3H1 SP50649 esv22323 1 172196277 172199145 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18042 S 451 0 1 RC3H1 NA18523 esv2646154 1 172210658 172212291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294327 S 1 0 1 RC3H1 NA18507 esv2273536 1 172211163 172211905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644754 S 1 0 1 RC3H1 NA18507 esv4673 1 172211316 172211783 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27114 S 1 0 1 Single Asian sample YH RC3H1 YH esv9249 1 172211369 172211715 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31690 S 1 0 1 RC3H1 SJK nsv831937 1 172215996 172398086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451494 S 95 1 0 RABGAP1L,RC3H1 nsv825431 1 172240982 172242777 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440847 S 31 0 1 "" NA18969 nsv465661 1 172281130 172419311 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541421 S 1557 0 1 RABGAP1L NINDS_156 nsv872552 1 172328467 172736371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526906 S 6533 0 1 GPR52,RABGAP1L SP57958 esv1162770 1 172372046 172372046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782988 S 2 1 0 "" HuRef nsv465672 1 172399874 172736528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541429 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR52,RABGAP1L HGDP01035 nsv470746 1 172417473 172736528 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547786 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR52,RABGAP1L HGDP01035 nsv825442 1 172426744 172429131 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424386,nssv1432430 M 31 0 2 RABGAP1L NA18947,NA18972 nsv528675 1 172462252 172486021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705315 S 2026 0 1 RABGAP1L nsv872553 1 172462252 172640002 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585109 S 6533 0 1 RABGAP1L IS37292 nsv872554 1 172476601 172558573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594927 S 6533 0 1 RABGAP1L IS40067 esv272851 1 172599599 172599946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582092,essv2582500 M 7 2 0 Samples from several populations that are part of the HapMap project. RABGAP1L NA12878,NA12891 esv271100 1 172599601 172599948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514666,essv2514966,essv2516361,essv2515736,essv2515919,essv2517613,essv2516227 M 157 7 0 Samples from several populations that are part of the HapMap project. RABGAP1L NA11840,NA12812,NA12814,NA12815,NA12873,NA12878,NA12891 nsv872555 1 172610328 172832343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535662 S 6533 0 1 GPR52,RABGAP1L MS12365 esv2544302 1 172702823 172704138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253243 S 1 0 1 RABGAP1L NA18507 dgv150e1 1 172735904 172836399 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2829,esv408 M 271 0 0 RABGAP1L NA18987 esv2632719 1 172750523 172751442 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227711 S 1 1 0 RABGAP1L NA18507 esv269658 1 172751240 172751574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521055,essv2559640,essv2549980,essv2544891,essv2566695 M 157 5 0 Samples from several populations that are part of the HapMap project. RABGAP1L NA11894,NA12776,NA18511,NA18526,NA18853 nsv516953 1 173060767 173068262 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689619,nssv676536,nssv662876,nssv682636,nssv674815,nssv668800,nssv658864,nssv671740,nssv673769,nssv690088,nssv669006,nssv688608,nssv693813,nssv653495,nssv681207,nssv680872,nssv655321,nssv662119,nssv656346,nssv667437,nssv683755,nssv654147,nssv672695,nssv679161,nssv657758,nssv684664,nssv655495,nssv668038,nssv676975,nssv685628,nssv653251,nssv654820,nssv671253,nssv661802,nssv690061,nssv686413,nssv684850,nssv690670,nssv689849,nssv660665,nssv683911,nssv681242,nssv661485,nssv679149,nssv672125,nssv687470,nssv660644,nssv656466,nssv680548,nssv665088,nssv667701,nssv653107,nssv684419,nssv683552,nssv667209,nssv661008,nssv667673,nssv666688,nssv653293,nssv654840,nssv669329,nssv659186,nssv690880,nssv662304,nssv690190,nssv668872,nssv667835,nssv687686,nssv666986,nssv667260,nssv666232,nssv679937,nssv658163,nssv674922,nssv684088,nssv693251,nssv692307,nssv688712,nssv695402,nssv668120,nssv667020,nssv681548,nssv660506,nssv658405,nssv689601,nssv691616,nssv687121,nssv659239,nssv693004,nssv659096,nssv692290,nssv656085,nssv687143,nssv656604,nssv685175,nssv657471 M 2026 1 95 RABGAP1L dgv16n17 1 173060767 173071745 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437280,nsv437291,nsv437302 M 60 0 3 RABGAP1L NA10830,NA10835,NA10846 nsv872556 1 173061043 173085959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505455 S 6533 0 1 RABGAP1L SP53528 nsv8547 1 173061164 173068579 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22759,nssv24578,nssv23082,nssv22092,nssv26183,nssv21765,nssv23698,nssv20425 M 31 0 8 Samples from several populations that are part of the HapMap project. RABGAP1L NA18502,NA18537,NA18563,NA18564,NA18860,NA18942,NA18980,NA19007 dgv88n67 1 173063044 173068501 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825453,nsv825476,nsv825464 M 31 0 13 RABGAP1L AK12,AK16,NA18537,NA18542,NA18547,NA18564,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18997 nsv442393 1 173063179 173068463 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RABGAP1L esv26467 1 173063237 173068473 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19181 S 451 0 6 RABGAP1L NA07045,NA11993,NA18502,NA19099,NA19114,NA19147 nsv514019 1 173063248 173068448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627814 S 1414 0 1 RABGAP1L dgv43n27 1 173064490 173068262 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465750,nsv465972,nsv465950,nsv465839,nsv465827,nsv465783,nsv465805,nsv465961,nsv465772,nsv465894,nsv465983,nsv465816,nsv465861,nsv465683,nsv465883,nsv465905,nsv466038,nsv465850,nsv466049,nsv465916,nsv465728,nsv465938,nsv466005,nsv465927,nsv465705,nsv466061,nsv465739,nsv465761,nsv465694,nsv465872,nsv466016,nsv466027,nsv465716,nsv465794,nsv465994 M 1557 0 35 RABGAP1L 1780846322_A,1780862020_A,1780862196_A,1780862263_A,1780862390_A,1780862419_A,1782681095_A,1782681144_A,1798860251_A,1798860491_A,HGDP00064,HGDP00100,HGDP00298,HGDP00338,HGDP00545,HGDP00590,HGDP00601,HGDP00629,HGDP00649,HGDP00670,HGDP00975,HGDP01172,HGDP01203,HGDP01212,HGDP01220,HGDP01227,HGDP01248,HGDP01323,HGDP01326,HGDP01337,HGDP01339,NINDS_127,NINDS_17,NINDS_204,NINDS_253 nsv438104 1 173064490 173068262 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469507,nssv469485,nssv469519,nssv469474,nssv469530,nssv469496 M 269 0 6 Samples from several populations that are part of the HapMap project. RABGAP1L NA10830,NA10835,NA10846,NA12144,NA12154,NA12248 nsv818578 1 173064490 173068262 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417358,nssv1415809,nssv1417158,nssv1417553,nssv1415810,nssv1415811,nssv1417223,nssv1417593,nssv1417137 M 112 1 8 RABGAP1L NA10860,NA11992,NA11993,NA18542,NA18547,NA18576,NA18612,NA18971,NA18978 dgv407n71 1 173066744 173085959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872559,nsv872558,nsv872557 M 6533 0 3 RABGAP1L SP52161,SP55747,SP80986 esv274970 1 173070229 173071590 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585768,essv2586158 M 1250 1 1 RABGAP1L nsv512750 1 173173416 173173829 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625379 S 1 1 0 RABGAP1L 1 esv1344689 1 173173530 173173530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899215 S 2 1 0 RABGAP1L HuRef nsv508048 1 173259807 173265807 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618515,nssv621482,nssv624224,nssv622300 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv29213 1 173289009 173292553 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10790 S 451 0 2 "" NA19108,NA19190 esv275171 1 173294595 173297731 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585273 S 1250 0 1 "" nsv825487 1 173298232 173380195 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428058 S 31 1 0 TNN AK10 nsv3609 1 173313035 173361029 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2608,nssv10357 M 9 0 2 TNN NA18555,NA18956 nsv508648 1 173323010 173388536 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618991,nssv622779 M 4 0 2 TNN NA10860,NA18994 esv2566793 1 173336798 173344125 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280568 S 1 0 1 TNN NA18507 nsv498693 1 173337104 173343296 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585407 S 9 0 1 TNN nsv3620 1 173337939 173339152 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4851 S 9 1 0 TNN NA19129 esv28085 1 173338098 173342827 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17945 S 451 2 0 TNN NA18916,NA19129 nsv821166 1 173338098 173342827 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420758 S 1 0 1 TNN NA10851 esv2159196 1 173358068 173358449 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518004 S 1 0 1 TNN NA18507 nsv160653 1 173358217 173358268 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179231 M 24 TNN nsv522101 1 173376140 173417806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694873 S 2026 0 1 KIAA0040,TNN nsv528874 1 173406942 173417806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705554 S 2026 0 1 KIAA0040 esv28699 1 173428557 173429998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15667 S 451 0 1 KIAA0040 NA12156 esv2439667 1 173466835 173468696 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285280 S 1 0 0 "" NA18507 esv9617 1 173467418 173468400 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32058 S 1 0 0 "" SJK esv1147921 1 173476358 173476358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915618 S 2 1 0 "" HuRef nsv831948 1 173496254 173673926 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441520,nssv1441521,nssv1451505 M 95 0 3 TNR esv28028 1 173549739 173550386 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9926 S 451 0 1 "" NA12828 esv1005191 1 173662563 173662632 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580736 S 3 0 1 TNR HuRef esv1283541 1 173662640 173662710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768719 S 2 0 1 TNR HuRef nsv159978 1 173662676 173662737 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178556 M 24 TNR nsv524232 1 173670132 173678601 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700122 S 2026 0 1 TNR esv21661 1 173678193 173678780 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10985 S 451 0 2 TNR NA18861,NA19147 nsv517137 1 173678535 173678601 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657248,nssv692108,nssv669181,nssv677118,nssv676402,nssv693365,nssv661290,nssv688982,nssv682338,nssv653846,nssv656856,nssv673770,nssv683938,nssv662803 M 2026 0 14 TNR nsv527256 1 173697478 173848873 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703660 S 2026 1 0 TNR nsv466072 1 173697478 174005626 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541710 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TNR HGDP00885 nsv528975 1 173697478 174023865 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705674 S 2026 1 0 TNR nsv3633 1 173707248 173739072 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10362 S 9 1 0 TNR NA18956 esv33328 1 173713206 174176624 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97518,essv93203 M 51 2 0 TNR 21616,22170 nsv508659 1 173762403 173814531 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618992 S 4 0 1 TNR NA10860 nsv3644 1 173769302 173802206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv334 S 9 1 0 TNR NA19240 nsv831959 1 173843007 174043352 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441522 S 95 1 0 TNR nsv872560 1 173915254 174136177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531560 S 6533 1 0 TNR MS10545 nsv528915 1 174002003 174005626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705601 S 2026 0 1 "" nsv3655 1 174034480 174068298 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7838 S 9 1 0 "" NA12156 esv2523812 1 174078113 174079142 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313456 S 1 1 0 "" NA18507 nsv522255 1 174094306 174116521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695035 S 2026 0 1 "" nsv872561 1 174216269 174358790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568012 S 6533 0 1 RFWD2 IS31187 dgv408n71 1 174216269 174451248 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872563,nsv872562 M 6533 0 2 RFWD2 IS35181,MS22104 nsv872564 1 174294601 174369431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540548 S 6533 0 1 RFWD2 MS14913 nsv872565 1 174325405 174439418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550771 S 6533 0 1 RFWD2 MS18620 esv2576730 1 174368194 174369801 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179724 S 1 0 1 RFWD2 NA18507 esv1757113 1 174368567 174368682 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705025 S 2 0 1 RFWD2 HuRef nsv8558 1 174401686 174408539 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27167 S 31 0 1 Samples from several populations that are part of the HapMap project. RFWD2 NA19221 nsv525586 1 174491369 174543675 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701725 S 2026 1 0 "" nsv159951 1 174503382 174506423 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178529 M 24 "" esv274991 1 174523240 174534667 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585612,essv2585821 M 1250 1 1 "" esv2340284 1 174536473 174536894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501336 S 1 0 1 "" NA18507 esv1003600 1 174536647 174536704 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584563 S 3 0 1 "" HuRef nsv831970 1 174652785 174835830 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441523 S 95 1 0 PAPPA2 nsv511719 1 174743629 174746064 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626361 S 1 0 1 PAPPA2 1 esv2467680 1 174744020 174745992 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326679 S 1 0 1 PAPPA2 NA18507 esv2094934 1 174744666 174745604 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647894 S 1 0 1 PAPPA2 NA18507 esv1170602 1 174744842 174745398 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364904 S 2 0 1 PAPPA2 HuRef esv6740 1 174744855 174745462 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29181 S 1 0 1 PAPPA2 SJK nsv159940 1 174744856 174745411 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178518 M 24 PAPPA2 esv275585 1 174773144 174774758 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585671 S 1250 0 1 PAPPA2 nsv831982 1 174797244 174978591 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441524 S 95 1 0 PAPPA2 esv992315 1 174829805 174838636 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563524 S 3 0 1 PAPPA2 HuRef esv1005770 1 174836386 174836455 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573272 S 3 0 1 PAPPA2 HuRef esv1596288 1 174836389 174836459 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254674 S 2 0 1 PAPPA2 HuRef nsv3666 1 174843318 174887633 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2609,nssv9379 M 9 0 2 PAPPA2 NA18517,NA18555 esv28963 1 174857237 174879887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17899 S 451 0 1 PAPPA2 NA18517 nsv498694 1 174857251 174879945 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585408 S 9 0 1 PAPPA2 nsv818589 1 174857914 174871187 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416423 S 112 0 1 PAPPA2 NA18517 nsv466094 1 174913006 174951576 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541727 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PAPPA2 HGDP01100 esv33914 1 174918134 174918737 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93248 S 51 1 0 PAPPA2 22170 nsv466105 1 174934433 174993725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541737 S 1557 0 1 PAPPA2 1780862081_A esv275131 1 174944283 174951055 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586178,essv2585392 M 1250 1 1 PAPPA2 nsv508049 1 174954105 174960105 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624225 S 4 0 1 PAPPA2 NA18994 nsv3677 1 175079080 175124444 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7142 S 9 0 1 ASTN1 NA12156 esv272595 1 175538568 175544011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581615 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv3688 1 175572780 175607794 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv342 S 9 1 0 "" NA19240 nsv3699 1 175579368 175624258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7860 S 9 0 1 "" NA12156 esv1372090 1 175634940 175634940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677720 S 2 1 0 "" HuRef esv1508179 1 175635136 175635136 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744973 S 2 1 0 "" HuRef esv259435 1 175654889 175655292 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393841,essv2393684,essv2394386 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 esv259875 1 175654896 175655306 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398623,essv2396759,essv2396090,essv2400259,essv2396560,essv2401145,essv2398892,essv2396016,essv2400588,essv2397557,essv2398102,essv2400278,essv2399963,essv2396783,essv2400781,essv2396702,essv2397962,essv2396955,essv2397455,essv2396049,essv2398411,essv2400347,essv2395512,essv2397443,essv2395079,essv2397201,essv2400603,essv2397868,essv2398830,essv2400407,essv2398957,essv2398985,essv2400177,essv2399128,essv2395747,essv2394605,essv2398445,essv2395319,essv2394415,essv2397489,essv2397779,essv2399642,essv2397380,essv2399293,essv2397242,essv2395931,essv2400476,essv2394494 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA11829,NA11919,NA11931,NA11995,NA12003,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12717,NA12750,NA12751,NA12892,NA18520,NA18537,NA18552,NA18555,NA18563,NA18566,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18853,NA18870,NA18871,NA18916,NA18943,NA18947,NA18956,NA18964,NA18980,NA19102,NA19225,NA19238,NA19240,NA19257 nsv872566 1 175702481 175926366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501239 S 6533 1 0 "" SP51056 nsv508050 1 175750349 175756349 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624226 S 4 0 1 "" NA18994 nsv831993 1 175892010 176053350 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441525 S 95 1 0 "" nsv872567 1 175915493 176003926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582783 S 6533 0 1 "" IS36158 nsv518310 1 176012077 176131177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695741 S 2026 0 1 "" nsv523131 1 176247682 176267144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698835 S 2026 0 1 LOC730102 esv268445 1 176252909 176253055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513349 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC730102 NA18907 nsv508670 1 176460065 176491478 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620143 S 4 0 1 RASAL2 NA15510 nsv872568 1 176534698 176622001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525631 S 6533 0 1 RASAL2 SP56748 esv2534493 1 176592506 176594067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191155 S 1 0 1 RASAL2 NA18507 esv2606666 1 176639007 176640395 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299571 S 1 0 1 RASAL2 NA18507 esv268437 1 176664200 176664541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517014,essv2514058,essv2516054,essv2518966,essv2518299 M 157 5 0 Samples from several populations that are part of the HapMap project. RASAL2 NA11931,NA12043,NA12873,NA19141,NA19240 esv273543 1 176664200 176664541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581177 S 7 1 0 Samples from several populations that are part of the HapMap project. RASAL2 NA19240 esv29324 1 176715719 176747908 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18500 S 451 1 0 "" NA18508 nsv517431 1 176730214 176738117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688435,nssv669007,nssv688900,nssv688197,nssv703322,nssv660818,nssv688983,nssv652157,nssv681635,nssv690204,nssv678211,nssv656754,nssv664446,nssv689697,nssv683119,nssv664300,nssv665325,nssv656467,nssv655960,nssv670337,nssv669825,nssv673042,nssv663102,nssv683662,nssv689193,nssv654306,nssv687659,nssv684157,nssv652004,nssv678160,nssv661194,nssv661291 M 2026 0 32 "" nsv818600 1 176737488 176738117 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417820,nssv1417819 M 112 2 0 "" NA18852,NA18853 esv989446 1 176741360 176741423 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570054 S 3 0 1 "" HuRef esv1367119 1 176741515 176741579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852426 S 2 0 1 "" HuRef esv4587 1 176761860 176762603 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27028 S 1 0 1 Single Asian sample YH "" YH nsv527862 1 176773217 176818095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704360 S 2026 0 1 C1orf220 nsv160911 1 176821807 176827109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179489 M 24 "" nsv437255 1 176899996 176952870 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467136 S 60 0 1 Samples from several populations that are part of the HapMap project. MIR4424 NA19211 nsv466116 1 176904538 176924239 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541747 S 1557 0 1 MIR4424 1780854065_A nsv160394 1 176916511 176924899 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178972 M 24 "" dgv151e1 1 176924205 176940697 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10606,essv15159,esv935,essv13943 M 271 0 0 "" NA19160,NA19210,NA19211 nsv470747 1 176926033 176940697 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547787,nssv547790,nssv547792,nssv547793,nssv547791,nssv547788 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913,HGDP00919,HGDP00937,HGDP00943,HGDP01201,HGDP01415 dgv44n27 1 176926556 176940697 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466127,nsv466138,nsv466173,nsv466160,nsv466195,nsv466184 M 1557 0 6 "" HGDP00913,HGDP00937,HGDP00943,NINDS_104,NINDS_125,NINDS_145 nsv515903 1 176926556 176940697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670036,nssv673771,nssv679183,nssv665216,nssv690430,nssv687019,nssv691413,nssv662753,nssv657974,nssv674823,nssv666332,nssv675619,nssv680460,nssv686573,nssv675249,nssv667909 M 2026 0 16 "" nsv818611 1 176926556 176940697 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416700 S 112 0 1 "" NA19160 nsv466149 1 176926556 176943588 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541765 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01415 nsv441721 1 176926933 176940811 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv409n71 1 176927964 176940266 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872571,nsv872569 M 6533 0 3 "" IS31302,IS41113,MS10802 nsv872570 1 176927964 176943588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561495 S 6533 0 1 "" MS25039 nsv525444 1 176929484 177154186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701572 S 2026 0 1 ANGPTL1,RALGPS2 nsv514020 1 176930992 176940688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627825 S 1414 0 1 "" nsv466206 1 176936294 177110517 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541816 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANGPTL1,RALGPS2 HGDP00554 nsv470748 1 176936294 177129888 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547794 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANGPTL1,RALGPS2 HGDP00554 nsv825498 1 177043617 177046343 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436369 S 31 0 1 RALGPS2 NA18542 nsv872572 1 177070117 177162946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514396 S 6533 0 1 ANGPTL1,RALGPS2 SP56004 nsv3710 1 177086998 177125524 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3540,nssv10378 M 9 2 0 ANGPTL1,RALGPS2 NA12878,NA18956 esv270430 1 177214770 177214855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516744,essv2517440,essv2514187,essv2514798,essv2518541,essv2515863,essv2514384,essv2513619 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11918,NA12043,NA12234,NA12287,NA12873,NA12874 nsv528689 1 177216941 177234941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705332 S 2026 0 1 "" nsv441722 1 177220369 177243352 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv825509 1 177229803 177242459 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423992 S 31 0 1 "" NA18582 esv29314 1 177244559 177246061 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12219 S 451 0 1 "" NA07037 nsv3721 1 177286494 177329917 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7865,nssv4852 M 9 2 0 FAM20B,TOR3A NA12156,NA19129 esv6687 1 177332110 177332159 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29128 S 1 1 0 "" SJK esv9286 1 177511512 177512882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31727 S 1 0 1 "" SJK esv990767 1 177536775 177544544 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565467 S 3 0 1 SOAT1 HuRef nsv523708 1 177558623 177560134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699518 S 2026 0 1 SOAT1 nsv518403 1 177590542 177638596 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695834 S 2026 1 0 AXDND1,SOAT1 esv33901 1 177595331 177611528 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101584,essv94675,essv93067,essv95895,essv92933,essv94856,essv99451 M 51 0 7 AXDND1 21603,21791,21863,21911,21939,22231,22335 esv25985 1 177596451 177601717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20900 S 451 0 9 AXDND1 NA06985,NA18502,NA18505,NA18517,NA18858,NA18861,NA18916,NA19129,NA19147 nsv514021 1 177596704 177599728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627836 S 1414 0 1 "" esv2421575 1 177597151 177599938 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5012124,essv5083278,essv5146404,essv5023583,essv5153627,essv5032490,essv5152999,essv5077289,essv5095789,essv5139061,essv5160415,essv5061423,essv5137567,essv5052316,essv5048220,essv5016393,essv5075018,essv5119224,essv5058548,essv5137274,essv5098562,essv5028253,essv5039072,essv5124667,essv5156127,essv5048091,essv5068994,essv5108482,essv5108985,essv5017274,essv5061604,essv5097011,essv5132529,essv5025007,essv5056191,essv5071583,essv5145007,essv5015922,essv5033416,essv5101784,essv5104072,essv5065579,essv5145049,essv5052283,essv5100318,essv5112808,essv5085733,essv5069338,essv5153614,essv5086366,essv5091635,essv5035268,essv5108601,essv5150759,essv5011182,essv5034143,essv5114594,essv5084884,essv5038782,essv5023822,essv5081111,essv5036858,essv5011068,essv5015278,essv5052552,essv5115524,essv5151661,essv5026577,essv5049378,essv5011412,essv5143999,essv5070718,essv5029551,essv5143489,essv5138135,essv5059872,essv5084874,essv5052133,essv5073615,essv5075276,essv5064408,essv5143258,essv5157369,essv5120205,essv5053914,essv5060071,essv5013241,essv5080535,essv5050966,essv5155816,essv5017351,essv5128386,essv5055324,essv5117140,essv5135829,essv5131880,essv5140504,essv5043457,essv5091830,essv5115646,essv5114759,essv5117276,essv5021192,essv5011496,essv5141782,essv5034608,essv5113935,essv5079448,essv5086790,essv5099915,essv5088133,essv5069172,essv5066395,essv5127812,essv5143492,essv5013710,essv5051426,essv5117467,essv5134099,essv5109370,essv5137384,essv5135658,essv5151712,essv5060628,essv5129974,essv5066285,essv5130177,essv5044726,essv5140913,essv5084128,essv5037505,essv5045196,essv5011610,essv5072419,essv5115377,essv5101377,essv5025520,essv5059106,essv5117058,essv5076884,essv5124864,essv5059797,essv5102561,essv5012644,essv5081530,essv5084294,essv5094745,essv5156123,essv5141928,essv5078078,essv5081597,essv5018748,essv5142615,essv5003116,essv5047886,essv5052840,essv5006400,essv5026376,essv5026969,essv5121839,essv5024225,essv5038185,essv5042563,essv5121247,essv5059208,essv5118648,essv5035041,essv5069744,essv5103780,essv5135011,essv5135568,essv5059944,essv5032595,essv5073129,essv5150220,essv5150868,essv5054255,essv5049593,essv5147970,essv5089938,essv5092778,essv5036595,essv5010065,essv5007569,essv5060875,essv5091383,essv5084944,essv5026688,essv5057444,essv5160593,essv5013412,essv5015452,essv5056095,essv5093453,essv5074785,essv5015176,essv5057757,essv5153952,essv5087925,essv5107704,essv5007755,essv5105493,essv5148066,essv5059085,essv5102647,essv5079260,essv5022571,essv5123420,essv5076580,essv5005153,essv5112644,essv5020099,essv5057905,essv5138741,essv5159888,essv5101328,essv5039169,essv5104543,essv5019515,essv5041001,essv5140330,essv5054363,essv5147608,essv5059018,essv5004051,essv5039096,essv5062635,essv5043027,essv5086210,essv5125696,essv5076145,essv5060427,essv5034949,essv5155393,essv5030760,essv5094155 M 1184 0 236 "" NA06985,NA06991,NA07051,NA10836,NA10837,NA10852,NA10853,NA10861,NA11995,NA12045,NA12154,NA12248,NA12273,NA12740,NA12750,NA12763,NA12801,NA12812,NA12890,NA12891,NA18484,NA18485,NA18486,NA18487,NA18489,NA18500,NA18503,NA18504,NA18505,NA18511,NA18515,NA18516,NA18517,NA18520,NA18852,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18863,NA18871,NA18872,NA18873,NA18874,NA18910,NA18911,NA18916,NA18917,NA18923,NA18925,NA18930,NA18934,NA19027,NA19028,NA19035,NA19094,NA19095,NA19097,NA19098,NA19102,NA19103,NA19107,NA19113,NA19116,NA19117,NA19119,NA19120,NA19128,NA19129,NA19137,NA19138,NA19139,NA19144,NA19147,NA19148,NA19149,NA19150,NA19151,NA19171,NA19173,NA19174,NA19175,NA19178,NA19179,NA19180,NA19182,NA19183,NA19185,NA19193,NA19194,NA19207,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19224,NA19226,NA19235,NA19248,NA19311,NA19313,NA19319,NA19328,NA19360,NA19375,NA19376,NA19379,NA19381,NA19390,NA19393,NA19396,NA19397,NA19398,NA19403,NA19428,NA19429,NA19437,NA19438,NA19439,NA19444,NA19452,NA19457,NA19462,NA19466,NA19467,NA19468,NA19469,NA19472,NA19473,NA19656,NA19657,NA19659,NA19713,NA19716,NA19784,NA19818,NA19828,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19918,NA19921,NA19983,NA19985,NA20279,NA20281,NA20287,NA20292,NA20294,NA20317,NA20335,NA20340,NA20341,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20504,NA20508,NA20524,NA20770,NA20819,NA20895,NA21123,NA21125,NA21333,NA21339,NA21355,NA21356,NA21357,NA21359,NA21361,NA21378,NA21379,NA21381,NA21383,NA21388,NA21389,NA21390,NA21391,NA21402,NA21403,NA21404,NA21405,NA21423,NA21424,NA21425,NA21441,NA21448,NA21451,NA21453,NA21473,NA21475,NA21476,NA21478,NA21479,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21509,NA21513,NA21517,NA21529,NA21573,NA21576,NA21577,NA21597,NA21600,NA21601,NA21631,NA21635,NA21647,NA21648,NA21685,NA21693,NA21717,NA21723,NA21776 nsv442505 1 177597151 177599938 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv523087 1 177619359 177638596 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698779 S 2026 1 0 AXDND1 esv21515 1 177722257 177724955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11393 S 451 0 3 AXDND1 NA11995,NA18511,NA19190 esv25164 1 177734262 177736379 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15822 S 451 0 1 AXDND1 NA11993 esv2428003 1 177757972 177759061 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374758 S 1 1 0 AXDND1 NA18507 esv268575 1 177758558 177758886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526013,essv2542510,essv2523042,essv2523424,essv2577641,essv2548570,essv2554233,essv2547536,essv2529118,essv2559652,essv2565378,essv2520196,essv2530880,essv2562069,essv2556870,essv2562680,essv2544788,essv2562983,essv2523564,essv2538400,essv2540576,essv2564966,essv2561280,essv2549286,essv2560030,essv2566138,essv2531193,essv2532912,essv2567791,essv2529016,essv2567407,essv2569910,essv2563667,essv2553457,essv2559143,essv2566879,essv2527890,essv2555221,essv2555535,essv2566669,essv2529879,essv2557588,essv2534195,essv2573520,essv2543299,essv2572178,essv2526824,essv2538852,essv2549835,essv2549018,essv2532968,essv2547818,essv2524837,essv2563448 M 157 54 0 Samples from several populations that are part of the HapMap project. AXDND1 NA07037,NA07051,NA07347,NA07357,NA10847,NA11918,NA11919,NA11931,NA12004,NA12043,NA12045,NA12287,NA12717,NA12749,NA12776,NA12812,NA12815,NA12873,NA12874,NA18501,NA18507,NA18526,NA18532,NA18537,NA18547,NA18552,NA18558,NA18562,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18638,NA18853,NA18907,NA18943,NA18945,NA18948,NA18949,NA18953,NA18959,NA18964,NA18965,NA18973,NA19005,NA19108,NA19225 nsv522746 1 177767988 177785082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698381 S 2026 0 1 AXDND1 nsv523253 1 177782695 177785082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698982 S 2026 0 1 AXDND1 nsv3732 1 177820617 177852711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv349,nssv2715 M 9 2 0 TDRD5 NA18555,NA19240 nsv511147 1 177872780 177875084 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625935 S 1 0 1 TDRD5 1 nsv511720 1 177873483 177875317 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626362 S 1 0 1 TDRD5 1 esv2544242 1 177873573 177875028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359125 S 1 0 1 TDRD5 NA18507 esv2244958 1 177873752 177874852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965229 S 1 0 1 TDRD5 NA18507 esv5000 1 177873868 177874770 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27441 S 1 0 1 Single Asian sample YH TDRD5 YH esv23404 1 177873980 177874648 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20879 S 451 15 3 TDRD5 NA06985,NA11894,NA11995,NA12004,NA12006,NA12287,NA12828,NA12878,NA18511,NA18523,NA18861,NA18907,NA19099,NA19114,NA19147,NA19190,NA19240,NA19257 esv997488 1 177873980 177874648 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586361 S 3 1 0 TDRD5 HuRef nsv821315 1 177873980 177874648 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420769 S 1 0 1 TDRD5 NA10851 esv2598318 1 177917335 177917932 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231502 S 1 1 0 TDRD5 NA18507 nsv512751 1 177917638 177918008 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625380 S 1 1 0 TDRD5 1 esv2552928 1 177987063 177988548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194999 S 1 0 1 FAM163A NA18507 esv33942 1 177989461 177990945 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94149 S 51 0 1 FAM163A 22394 dgv19n21 1 178028224 178062128 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519307,nsv520418 M 2026 0 2 FAM163A nsv522044 1 178032709 178032795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694814 S 2026 0 1 FAM163A esv2568232 1 178089041 178090323 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375273 S 1 0 1 TOR1AIP2 NA18507 nsv528201 1 178097871 178099266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704761 S 2026 0 1 TOR1AIP2 nsv519273 1 178097871 178114500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696760 S 2026 0 1 TOR1AIP2 nsv518936 1 178114025 178124956 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696401 S 2026 1 0 TOR1AIP1 nsv3744 1 178147298 178177918 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4866 S 9 1 0 TOR1AIP1 NA19129 nsv872573 1 178196011 178359689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599355 S 6533 0 1 CEP350 IS41634 nsv466228 1 178211524 178334611 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541832 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CEP350 HGDP00766 nsv520322 1 178211524 178338610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662917,nssv689825,nssv692308 M 2026 0 3 CEP350 nsv520278 1 178212013 178359689 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697322 S 2026 1 0 CEP350 nsv3755 1 178265483 178310177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7871 S 9 0 1 CEP350 NA12156 nsv832004 1 178395125 178602163 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441528,nssv1441531,nssv1441529,nssv1441532,nssv1441527,nssv1441526 M 95 6 0 ACBD6,FLJ23867,LHX4,LOC100527964,QSOX1 nsv466239 1 178412601 178535099 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541841 S 1557 1 0 ACBD6,FLJ23867,LHX4,LOC100527964,QSOX1 NINDS_23 nsv872574 1 178413008 178443889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546466 S 6533 0 1 FLJ23867,QSOX1 MS17208 nsv522045 1 178418865 178426277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694815 S 2026 0 1 QSOX1 nsv528041 1 178421399 178430013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704573 S 2026 0 1 QSOX1 esv2462320 1 178449541 178451203 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323906 S 1 0 1 "" NA18507 esv3588 1 178450118 178450866 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26029 S 1 0 1 Single Asian sample YH "" YH esv2524868 1 178450459 178450777 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243051 S 1 0 1 "" NA18507 esv8585 1 178450464 178450777 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31026 S 1 0 1 "" SJK esv1000645 1 178450465 178450783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579785 S 3 0 1 "" HuRef esv1784268 1 178450469 178450788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675982 S 2 0 1 "" HuRef nsv872575 1 178453336 178504866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543366 S 6533 0 1 LHX4 MS16153 esv23910 1 178465275 178467516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14202 S 451 0 1 LHX4 NA12156 dgv410n71 1 178487707 178504866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872576,nsv872577 M 6533 0 2 LHX4 MS10311,MS17208 esv29505 1 178495181 178497081 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17575 S 451 0 1 LHX4 NA18907 esv2650355 1 178542949 178544284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387757 S 1 0 1 ACBD6 NA18507 nsv527918 1 178546333 178710431 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704424 S 2026 1 0 ACBD6,MIR3121 esv2576257 1 178559377 178561270 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264703 S 1 0 1 ACBD6 NA18507 esv2136642 1 178559446 178560135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689488 S 1 0 1 ACBD6 NA18507 esv1001564 1 178559521 178560497 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565328 S 3 0 1 ACBD6 HuRef esv5032 1 178559576 178559997 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27473 S 1 0 1 Single Asian sample YH ACBD6 YH esv1123070 1 178559627 178559951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850999 S 2 0 1 ACBD6 HuRef esv6088 1 178559628 178559940 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28529 S 1 0 1 ACBD6 SJK nsv3766 1 178650579 178676883 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv358 S 9 1 0 ACBD6,MIR3121 NA19240 nsv872578 1 178777394 179108967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527671 S 6533 1 0 XPR1 SP80919 nsv825520 1 178829300 178831410 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427293 S 31 0 1 "" AK8 esv1216422 1 178892203 178892203 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339051 S 2 1 0 XPR1 HuRef esv988017 1 178897271 178906075 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565500 S 3 0 1 XPR1 HuRef esv267829 1 178960330 178960676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509940,essv2497658 M 157 2 0 Samples from several populations that are part of the HapMap project. XPR1 NA18508,NA19147 nsv3777 1 179007836 179046936 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7149,nssv3551 M 9 0 2 XPR1 NA12156,NA12878 nsv498695 1 179016391 179022021 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585409 S 9 0 1 XPR1 esv22705 1 179017029 179022129 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20795 S 451 0 2 XPR1 NA12156,NA12878 esv1112679 1 179094827 179094827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360551 S 2 1 0 XPR1 HuRef nsv159447 1 179094827 179094827 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178025 M 24 XPR1 esv2452119 1 179123667 179124801 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342697 S 1 1 0 XPR1 NA18507 esv270103 1 179124155 179124483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565691,essv2526069,essv2542293,essv2536605,essv2522842,essv2544044,essv2556493,essv2545469,essv2523417,essv2577253,essv2570556,essv2521623,essv2576877,essv2525482,essv2535483,essv2520548,essv2558405,essv2553648,essv2565451,essv2576495,essv2519934,essv2555057,essv2561829,essv2546791,essv2557498,essv2556977,essv2532215,essv2562696,essv2536883,essv2539122,essv2569664,essv2523650,essv2538465,essv2524755,essv2564942,essv2534886,essv2561275,essv2560057,essv2567811,essv2567417,essv2535581,essv2568905,essv2543441,essv2527990,essv2555209,essv2555558,essv2566677,essv2527577,essv2555894,essv2534428,essv2531401,essv2526910,essv2529630,essv2575572,essv2575221,essv2538602,essv2526565,essv2524272,essv2572876,essv2545127,essv2545948,essv2574458,essv2551258,essv2536106,essv2549072,essv2548041,essv2524828,essv2563471 M 157 68 0 Samples from several populations that are part of the HapMap project. XPR1 NA06986,NA07037,NA07347,NA07357,NA10847,NA11829,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12716,NA12750,NA12763,NA12812,NA12814,NA12815,NA12872,NA12874,NA12892,NA18499,NA18501,NA18505,NA18507,NA18517,NA18519,NA18520,NA18537,NA18547,NA18555,NA18558,NA18561,NA18562,NA18570,NA18577,NA18582,NA18608,NA18861,NA18870,NA18907,NA18943,NA18945,NA18948,NA18952,NA18956,NA18959,NA18961,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19143,NA19172,NA19239,NA19240,NA19257 esv273579 1 179124155 179124483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583272,essv2584650,essv2583634 M 7 3 0 Samples from several populations that are part of the HapMap project. XPR1 NA12892,NA19239,NA19240 nsv872579 1 179147771 179198131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549610 S 6533 0 1 KIAA1614 MS18276 nsv508051 1 179259062 179265062 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621483 S 4 0 1 "" NA15510 esv993520 1 179280817 179294814 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563746 S 3 0 1 MR1 HuRef nsv819813 1 179286370 179286933 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419005 S 2 0 1 MR1 AK1 esv2644663 1 179309556 179311409 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230839 S 1 0 1 "" NA18507 esv270625 1 179314008 179314349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519295,essv2518727,essv2514986,essv2514394,essv2517680,essv2516183,essv2513824,essv2515186,essv2518890,essv2518351 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12045,NA12812,NA12874,NA12878,NA12891,NA19143,NA19238,NA19239,NA19240 esv273271 1 179314014 179314345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582076,essv2582744,essv2584196,essv2584694,essv2583881 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv22385 1 179324305 179325937 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16186 S 451 0 1 IER5 NA12156 esv1148016 1 179372629 179372629 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141015 S 2 1 0 "" HuRef nsv872580 1 179386907 179518237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532767 S 6533 0 1 "" MS10840 nsv521968 1 179398342 179399898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694736 S 2026 1 0 "" esv26294 1 179413660 179480328 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10871 S 451 2 0 "" NA18858,NA19257 nsv3788 1 179571497 179605959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv364 S 9 1 0 "" NA19240 nsv527166 1 179576023 179577104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703560 S 2026 0 1 "" nsv528924 1 179625030 179635420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705614 S 2026 0 1 "" esv275129 1 179644152 179646278 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585131 S 1250 0 1 "" nsv508052 1 179652225 179658225 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621484 S 4 0 1 "" NA15510 nsv517925 1 179785978 179795822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695336 S 2026 0 1 CACNA1E esv274432 1 179854950 179855290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581712,essv2582268 M 7 2 0 Samples from several populations that are part of the HapMap project. CACNA1E NA12878,NA12891 esv269576 1 179854950 179855292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536512,essv2523367,essv2531787,essv2550745,essv2551992,essv2520026,essv2537254,essv2528486,essv2552372,essv2578585,essv2539102,essv2519859,essv2539254,essv2523985,essv2549714,essv2537987,essv2548921,essv2547944 M 157 18 0 Samples from several populations that are part of the HapMap project. CACNA1E NA07000,NA07037,NA07347,NA11920,NA12004,NA12006,NA12155,NA12489,NA12815,NA12878,NA12891,NA18502,NA18510,NA18519,NA18566,NA18912,NA19129,NA19225 esv274609 1 179867863 179868041 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580633,essv2579474 M 7 2 0 Samples from several populations that are part of the HapMap project. CACNA1E NA19238,NA19240 esv271216 1 179867878 179868174 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536525,essv2523110,essv2531688,essv2550741,essv2551959,essv2520270,essv2537617,essv2528240,essv2552560,essv2569292,essv2578751,essv2558752,essv2536843,essv2539143,essv2569659,essv2533997,essv2524084,essv2560930,essv2549755,essv2537746,essv2548783 M 157 21 0 Samples from several populations that are part of the HapMap project. CACNA1E NA07000,NA07037,NA11920,NA12004,NA12006,NA12155,NA12489,NA12815,NA12878,NA12891,NA18502,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18916,NA19129,NA19137,NA19225 nsv516290 1 179871788 179878664 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685471,nssv667373 M 2026 2 0 CACNA1E esv270119 1 180174582 180174667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514834,essv2519401 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12234 nsv3799 1 180186090 180202353 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3561 S 9 1 0 "" NA12878 esv2630908 1 180304237 180305196 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200092 S 1 1 0 "" NA18507 esv1205084 1 180304752 180304752 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225969 S 2 1 0 "" HuRef esv2503588 1 180338099 180339462 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191593 S 1 0 1 "" NA18507 esv2547222 1 180373938 180374430 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334134 S 1 1 0 "" NA18507 nsv512752 1 180374050 180374240 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625381 S 1 1 0 "" 1 esv1422616 1 180374235 180374235 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025853 S 2 1 0 "" HuRef nsv523295 1 180474434 180478046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699035 S 2026 0 1 "" nsv872581 1 180516496 180584118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594899 S 6533 0 1 "" IS40062 esv27430 1 180529371 180536529 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11368 S 451 1 0 "" NA19240 esv1007138 1 180536281 180540938 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564592 S 3 1 0 "" HuRef esv25907 1 180537011 180538452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19823 S 451 0 1 "" NA18858 esv8519 1 180555958 180556266 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30960 S 1 0 1 "" SJK esv22717 1 180626201 180628113 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12401 S 451 0 1 GLUL NA12156 esv259800 1 180687015 180687341 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394738,essv2395852,essv2395759,essv2400556,essv2396781,essv2399192,essv2398515,essv2400173,essv2394437,essv2394601 M 144 0 0 Samples from several populations that are part of the HapMap project. RGSL1 NA07357,NA11830,NA12004,NA12043,NA12249,NA12776,NA18562,NA18608,NA18943,NA18965 esv268729 1 180687441 180687780 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517052,essv2515105,essv2515565,essv2518052,essv2517639,essv2516237,essv2515219,essv2513622 M 157 8 0 Samples from several populations that are part of the HapMap project. RGSL1 NA07347,NA11931,NA12812,NA12815,NA12872,NA12878,NA12891,NA19238 esv273261 1 180687445 180687776 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582250,essv2582620,essv2584336 M 7 3 0 Samples from several populations that are part of the HapMap project. RGSL1 NA12878,NA12891,NA19238 nsv825531 1 180709408 180878928 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424779 S 31 0 1 LOC284648,RGS16,RGSL1,RNASEL AK2 nsv825542 1 180732932 180755753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434629 S 31 1 0 RGSL1 NA18592 nsv825553 1 180741842 180755772 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439492 S 31 1 0 RGSL1 NA18537 nsv528762 1 180768132 180773445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705424 S 2026 0 1 RGSL1 esv259830 1 180768974 180769275 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397554,essv2396861,essv2399493,essv2400088,essv2395321,essv2398140,essv2400785,essv2399790,essv2396393 M 144 0 0 Samples from several populations that are part of the HapMap project. RGSL1 NA12044,NA18579,NA18858,NA18861,NA18916,NA18949,NA18952,NA19129,NA19138 nsv825564 1 180809030 180809563 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424780 S 31 0 1 RNASEL AK2 esv1010175 1 180809214 180851986 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563935 S 3 0 1 LOC284648,RGS16,RNASEL HuRef nsv3810 1 180866368 180897348 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7892 S 9 0 1 RGS8 NA12156 esv2101755 1 180986343 180986759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851441 S 1 0 1 "" NA18507 esv26933 1 181043260 181048506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15957 S 451 0 1 NPL NA12489 nsv159118 1 181054074 181063378 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177696 M 24 NPL esv2537876 1 181088438 181089211 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363012 S 1 1 0 DHX9 NA18507 esv26421 1 181204460 181205783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20875 S 451 0 4 "" NA18505,NA18517,NA19147,NA19225 esv2170532 1 181218447 181219119 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706964 S 1 0 1 "" NA18507 esv4413 1 181218588 181219025 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26854 S 1 0 1 Single Asian sample YH "" YH nsv159601 1 181218647 181218947 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178179 M 24 "" nsv819917 1 181378973 181379184 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419237 S 2 0 1 LAMC1 AK1 esv1328001 1 181385388 181385446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359274 S 2 0 1 "" HuRef esv1457903 1 181385564 181385627 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885748 S 2 0 1 "" HuRef esv1659279 1 181385629 181385700 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788525 S 2 0 1 "" HuRef nsv825575 1 181392500 181393965 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424398 S 31 1 0 "" NA18947 esv33222 1 181417109 181418317 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100957,essv98549,essv94919,essv99177 M 51 4 0 "" 21693,22085,22231,22275 esv33688 1 181431585 181432323 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93858,essv100888,essv95097,essv94731,essv97844,essv96331 M 51 0 6 LAMC2 21634,21656,21721,21791,21837,22371 nsv437256 1 181668503 181681941 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467137 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18515 nsv825587 1 181799760 181809284 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431853 S 31 0 1 NCF2 AK20 nsv872582 1 181883728 181992443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565338 S 6533 0 1 APOBEC4,RGL1 IS30398 nsv832015 1 181945342 182142041 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441533 S 95 1 0 RGL1 nsv825598 1 182044858 182051936 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440161,nssv1433456 M 31 2 0 RGL1 NA18526,NA18564 esv259706 1 182044934 182052077 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396630,essv2400835 M 144 0 0 Samples from several populations that are part of the HapMap project. RGL1 NA18526,NA18564 nsv441723 1 182046713 182052162 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RGL1 nsv832026 1 182051688 182228470 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441561,nssv1441556,nssv1441555,nssv1441544,nssv1441539,nssv1441568,nssv1441560,nssv1441557,nssv1441559,nssv1441572,nssv1441578,nssv1441538,nssv1441535,nssv1441571,nssv1441562,nssv1441564,nssv1441567,nssv1441565,nssv1441566,nssv1441536,nssv1441537,nssv1441558,nssv1441569,nssv1441570,nssv1441575,nssv1441543,nssv1441573,nssv1441542,nssv1441576,nssv1441540,nssv1441577,nssv1441579,nssv1441554,nssv1441580,nssv1441534,nssv1441581,nssv1441553,nssv1441547,nssv1441545,nssv1441546,nssv1441549,nssv1441548,nssv1441551,nssv1441550 M 95 4 40 GLT25D2,RGL1 nsv525878 1 182109727 182180163 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702078 S 2026 1 0 GLT25D2,RGL1 esv1709028 1 182122964 182122964 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010389 S 2 1 0 RGL1 HuRef esv2010262 1 182191241 182191664 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830107 S 1 0 1 GLT25D2 NA18507 nsv526480 1 182199082 182204825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702789 S 2026 0 1 GLT25D2 nsv872583 1 182222197 182282286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523994 S 6533 0 1 GLT25D2 SP54337 esv24684 1 182245900 182247200 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18374,esv12211 M 451 0 6 GLT25D2 NA18508,NA19099,NA19108,NA19147,NA19190,NA19225 esv1010925 1 182324416 182324416 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585729 S 3 1 0 "" HuRef nsv818622 1 182411618 182425419 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417161 S 112 0 1 "" NA12234 esv268678 1 182424979 182425064 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513902 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv528772 1 182555443 182557138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705436 S 2026 0 1 "" nsv3821 1 182586166 182631859 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6004 S 9 0 1 C1orf21 NA12156 esv267898 1 182589443 182589619 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511017,essv2511179,essv2499407,essv2502905,essv2495396,essv2495835,essv2511819,essv2496261,essv2505212,essv2498398,essv2495624,essv2503525,essv2512364,essv2493049,essv2500581,essv2496016,essv2502658,essv2505664,essv2504812,essv2506480,essv2499125,essv2497078,essv2499660 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11931,NA12044,NA12156,NA12287,NA12489,NA18499,NA18511,NA18853,NA18858,NA18916,NA18947,NA18949,NA18951,NA18956,NA18961,NA18965,NA19005,NA19099,NA19108,NA19114,NA19190,NA19225 nsv832037 1 182834817 183023220 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441582 S 95 1 0 C1orf21,EDEM3 dgv20n21 1 182849917 182863207 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525959,nsv528925 M 2026 0 2 C1orf21 nsv832048 1 182926769 183125425 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441584,nssv1441583 M 95 0 2 EDEM3,FAM129A nsv508053 1 182931516 182937516 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624227,nssv622301 M 4 0 2 EDEM3 NA10860,NA18994 nsv872584 1 182944913 182983080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513172 S 6533 0 1 EDEM3 SP55694 nsv508677 1 183045243 183091925 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617374 S 4 0 1 FAM129A CHM nsv3832 1 183051065 183059294 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6014 S 9 0 1 FAM129A NA12156 esv267784 1 183058862 183058947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515020 S 157 1 0 Samples from several populations that are part of the HapMap project. FAM129A NA12812 nsv3843 1 183065293 183124737 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4876,nssv372,nssv3572,nssv2626,nssv6025 M 9 0 5 FAM129A NA12156,NA12878,NA18555,NA19129,NA19240 nsv525731 1 183078788 183304727 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701895 S 2026 1 0 FAM129A,RNF2 dgv411n71 1 183080508 183253348 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872587,nsv872586,nsv872585 M 6533 3 0 FAM129A SP51188,SP55642,SP56539 esv2617140 1 183080758 183088104 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301452 S 1 0 1 FAM129A NA18507 nsv511721 1 183081095 183087451 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626363 S 1 0 1 FAM129A 1 nsv436157 1 183081113 183087451 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465866 S 2 0 1 Samples from several populations that are part of the HapMap project. FAM129A NA18505 esv2335294 1 183081145 183087594 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670110 S 1 0 1 FAM129A NA18507 nsv498696 1 183081351 183087423 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585410 S 9 0 1 FAM129A dgv6n6 1 183081352 183087422 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159898,nsv160177 M 24 FAM129A esv2521611 1 183203135 183204854 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211737 S 1 0 1 FAM129A NA18507 esv2244253 1 183203475 183204195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944128 S 1 0 1 FAM129A NA18507 esv4945 1 183203581 183204088 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27386 S 1 0 1 Single Asian sample YH FAM129A YH esv1001682 1 183203671 183203992 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583014 S 3 0 1 FAM129A HuRef esv1416043 1 183203676 183203998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925746 S 2 0 1 FAM129A HuRef esv274591 1 183217045 183217351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578903 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271268 1 183217070 183217399 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522707,essv2523428,essv2570641,essv2564248,essv2561914,essv2520883,essv2569240,essv2536885,essv2551176,essv2575771,essv2568693,essv2545746,essv2574403,essv2549094,essv2563302 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11931,NA12004,NA12044,NA12828,NA12874,NA18498,NA18508,NA18517,NA18858,NA19099,NA19147,NA19239,NA19240 nsv522073 1 183253348 183279972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694127 S 2026 0 1 "" dgv89n67 1 183276397 183278343 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825609,nsv825620 M 31 0 6 "" AK2,AK20,NA18542,NA18552,NA18973,NA18997 esv7397 1 183276414 183278362 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29838 S 1 0 1 "" SJK esv29875 1 183276509 183278363 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19028,esv14588 M 451 0 4 "" NA12878,NA18502,NA19190,NA19225 nsv521613 1 183338454 183438492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698231 S 2026 0 1 SWT1,TRMT1L nsv872588 1 183348526 183384311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518203 S 6533 0 1 TRMT1L SP57472 nsv3855 1 183465170 183498692 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv383 S 9 1 0 SWT1 NA19240 dgv152e1 1 183559820 183612394 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1176,essv7438,essv980 M 271 0 0 LOC100288079 NA18582,NA18964 nsv159375 1 183587975 183591244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177953 M 24 "" esv2580997 1 183639201 183640826 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343383 S 1 0 1 "" NA18507 esv2255562 1 183639523 183640237 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543738 S 1 0 1 "" NA18507 esv6466 1 183639723 183640054 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28907 S 1 0 1 "" SJK esv2494518 1 183639727 183640064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342223 S 1 0 1 "" NA18507 nsv160209 1 183703920 183704102 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178787 M 24 "" esv268929 1 183771298 183771658 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495257,essv2508838,essv2502772,essv2506002,essv2512995,essv2497256,essv2499862,essv2507852,essv2511342,essv2500668,essv2508660,essv2501636,essv2505807,essv2511078,essv2497935,essv2502363,essv2495997,essv2495126,essv2498998,essv2512119,essv2502254 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12878,NA12892,NA18523,NA18547,NA18552,NA18562,NA18564,NA18570,NA18571,NA18592,NA18608,NA18861,NA18944,NA18945,NA18948,NA18961,NA18964,NA19114,NA19238,NA19257 esv273502 1 183771306 183771643 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582191,essv2583039,essv2584175 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv270702 1 183828768 183829064 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512543,essv2496763,essv2511771,essv2494075 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18499,NA18871 esv2468461 1 184033130 184034667 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210007 S 1 0 1 HMCN1 NA18507 esv1976790 1 184033281 184033931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640197 S 1 0 1 HMCN1 NA18507 esv2563566 1 184049663 184052685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197703 S 1 0 1 HMCN1 NA18507 esv2347927 1 184050148 184052121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603420 S 1 0 1 HMCN1 NA18507 esv23364 1 184050194 184051984 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13927 S 451 0 3 HMCN1 NA18505,NA19099,NA19240 esv2572731 1 184067962 184069395 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393551 S 1 0 1 HMCN1 NA18507 nsv3866 1 184228563 184262775 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2721 S 9 1 0 HMCN1 NA18555 esv2186053 1 184322380 184322766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965664 S 1 0 1 HMCN1 NA18507 esv275404 1 184456751 184471514 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585874,essv2585668 M 1250 1 1 "" nsv523794 1 184583111 184594159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699622 S 2026 0 1 TPR esv2528820 1 184589545 184591037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264971 S 1 0 1 TPR NA18507 nsv872589 1 184620769 184656926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515326 S 6533 0 1 C1orf27,OCLM SP56172 nsv527758 1 184718694 184723600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704245 S 2026 0 1 "" nsv832059 1 184731555 184905748 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441586 S 95 1 0 "" esv9724 1 184754287 184754355 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32165 S 1 1 0 "" SJK nsv872590 1 184824076 185766961 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535169 S 6533 1 0 PLA2G4A,PTGS2 MS12050 nsv825631 1 184860490 184860963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436371 S 31 0 1 "" NA18542 dgv412n71 1 184907476 184910164 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872591,nsv872594 M 6533 0 2 PTGS2 SP50120,SP50144 dgv413n71 1 184907681 184909681 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872592,nsv872593 M 6533 0 2 PTGS2 SP50652,SP53687 nsv470750 1 184909052 184967582 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547795 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTGS2 HGDP00864 dgv414n71 1 184912628 184916108 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872595,nsv872596,nsv872597 M 6533 0 3 PTGS2 SP54684,SP56223,SP57469 nsv466261 1 184919018 185009570 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541854 S 1557 0 1 "" 1780862358_A nsv466272 1 185009570 185069849 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541863 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLA2G4A HGDP01185 esv994082 1 185009826 185009826 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583373 S 3 1 0 "" HuRef esv1302199 1 185009827 185009827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203786 S 2 1 0 "" HuRef esv2610871 1 185030742 185032514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386326 S 1 0 1 "" NA18507 esv1341597 1 185031632 185032127 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280070 S 2 0 1 "" HuRef nsv160133 1 185031633 185032127 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178711 M 24 "" esv1010484 1 185114016 185114016 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566495 S 3 1 0 PLA2G4A HuRef esv1093925 1 185114055 185114055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757661 S 2 1 0 PLA2G4A HuRef nsv3877 1 185174182 185207716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv393 S 9 1 0 PLA2G4A NA19240 esv2750817 1 185336978 186256217 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980762,essv6980761,essv6989196,essv6987845,essv6987844 M 771 0 1 "" BEC_132 nsv819411 1 185379909 185393300 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418638 S 2 1 0 "" AK1 esv1963389 1 185382279 185382703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656543 S 1 0 1 "" NA18507 esv2601440 1 185393560 185395049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202999 S 1 0 1 "" NA18507 esv273720 1 185448901 185448986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581151 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv441724 1 185564993 185567314 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514022 1 185565056 185567248 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627848 S 1414 0 0 "" nsv522765 1 185587321 185594019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698405 S 2026 0 1 "" nsv518497 1 185587321 185608061 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695938 S 2026 0 1 "" nsv3888 1 185657785 185669511 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2637 S 9 1 0 "" NA18555 esv23945 1 185666422 185671672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20872 S 451 0 2 "" NA18502,NA18858 esv272061 1 185708431 185710432 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517976 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv990600 1 185727831 185733937 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563881 S 3 0 1 "" HuRef nsv872598 1 185728342 185839646 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578855 S 6533 1 0 "" IS34954 nsv511722 1 185730193 185733510 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626364 S 1 0 1 "" 1 esv2511706 1 185731165 185734027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253765 S 1 0 1 "" NA18507 esv3001 1 185731237 185733252 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25442 S 1 0 1 Single Asian sample YH "" YH nsv821573 1 185731273 185733106 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420780 S 1 0 1 "" NA10851 nsv498697 1 185731451 185733353 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585411 S 9 0 1 "" esv6027 1 185731452 185733109 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28468 S 1 0 0 "" SJK esv28976 1 185731458 185733106 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18231 S 451 16 0 "" NA06985,NA11931,NA12004,NA12414,NA12749,NA12776,NA12878,NA15510,NA18508,NA18511,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108 nsv825642 1 185731458 185733106 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428855,nssv1428059,nssv1427294,nssv1440163,nssv1422401,nssv1434740,nssv1434898,nssv1423808,nssv1424783,nssv1425539,nssv1438615,nssv1437977,nssv1440848,nssv1435686,nssv1423162,nssv1433457,nssv1429595,nssv1426426,nssv1431111,nssv1437255,nssv1434207,nssv1421490,nssv1431855,nssv1436372,nssv1439493,nssv1424410,nssv1423993,nssv1437940,nssv1432441,nssv1430382 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514023 1 185731472 185733152 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627859 S 1414 0 1 "" esv2508611 1 185731535 185733999 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336800 S 1 0 0 "" NA18507 esv1011645 1 185733101 185733350 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939389 S 2 0 0 "" HuRef esv7762 1 185733238 185733350 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30203 S 1 0 0 "" SJK nsv3899 1 185735281 185780645 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6036 S 9 0 1 "" NA12156 esv274443 1 185763850 185769932 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580253,essv2580335 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv466284 1 185779904 185866060 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541871 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00526 dgv415n71 1 185799496 186191949 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872600,nsv872599 M 6533 2 0 "" MS12050,MS18376 nsv517291 1 185819288 185866060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670220,nssv679016,nssv664938,nssv689742,nssv659699,nssv682899,nssv652158,nssv661486,nssv657606,nssv673863,nssv653013,nssv662305,nssv661819,nssv657962,nssv671386,nssv658758,nssv652883,nssv670152,nssv654217,nssv691414,nssv683038,nssv687511,nssv653321,nssv681964,nssv663117,nssv685472,nssv659007,nssv682475,nssv684899,nssv658705,nssv662004 M 2026 0 31 "" esv2588850 1 185833055 185855129 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248923 S 1 0 1 "" NA18507 nsv818633 1 185839646 185847926 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418425,nssv1418247,nssv1418246 M 112 0 3 "" NA19092,NA19094,NA19140 nsv466295 1 185839646 185862537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541880 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01415 esv2653931 1 185857626 185864024 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180043 S 1 0 1 "" NA18507 esv2463016 1 185859414 185863861 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368645 S 1 0 1 "" NA18507 esv2331023 1 185860085 185863704 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904053 S 1 0 1 "" NA18507 nsv872601 1 185891093 185946963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504678 S 6533 0 1 "" SP52708 esv1129778 1 185902332 185902332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841967 S 2 1 0 "" HuRef nsv516534 1 185912515 186021648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685705,nssv668934 M 2026 0 2 "" nsv521863 1 185928153 186050561 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694105 S 2026 1 0 "" nsv466306 1 185947981 185970440 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541888 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00155 nsv3910 1 185972752 185990377 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3590 S 9 0 1 "" NA12878 nsv436401 1 185981956 185991078 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465867 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26901 1 185982371 185988901 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17290 S 451 0 14 "" NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12414,NA12749,NA12776,NA12828,NA12878,NA18505,NA18916,NA19225 nsv514024 1 185983120 185988960 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627870 S 1414 0 1 "" nsv508679 1 185988820 185996016 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617385 S 4 0 1 "" CHM nsv470751 1 185998240 186064204 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547796 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00664 nsv466317 1 185998240 186078647 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541894 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00664 nsv466328 1 186012986 186049990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541901 S 1557 0 1 "" 1780862358_A esv23035 1 186019107 186021405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17986,esv12995 M 451 0 4 "" NA07045,NA11995,NA12156,NA19129 nsv832070 1 186076660 186258366 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441587 S 95 1 0 "" esv269761 1 186160460 186160545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516016 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 dgv416n71 1 186160814 186306766 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872602,nsv872603 M 6533 0 3 "" IS35911,IS36656,MS18847 esv22061 1 186205985 186214018 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19549 S 451 0 1 "" NA19114 nsv516633 1 186206616 186213763 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697506,nssv679415,nssv669738,nssv681521,nssv689014 M 2026 1 4 "" esv269360 1 186221983 186222338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504076,essv2497671 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA19147 nsv466339 1 186259616 186284568 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541910 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00397 nsv832081 1 186289940 186444880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441588 S 95 1 0 "" nsv520044 1 186431028 186435729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697193 S 2026 0 1 "" esv271577 1 186441229 186441455 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510264,essv2503230,essv2503851,essv2508833,essv2500328,essv2502836,essv2500645,essv2507693,essv2507566,essv2510508,essv2503983 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11881,NA12761,NA12878,NA12891,NA12892,NA18571,NA18576,NA18638,NA19172 esv272733 1 186441247 186441378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581668,essv2582315,essv2582877 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv872604 1 186445004 186567491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582306 S 6533 0 1 "" IS35911 esv270054 1 186453050 186453392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521352,essv2548226,essv2521798,essv2550273,essv2577915,essv2537367,essv2528224,essv2547117,essv2521910,essv2532501,essv2553428,essv2559221,essv2542164,essv2551162,essv2568828,essv2549127,essv2557900 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11894,NA12045,NA12144,NA12234,NA12761,NA12878,NA12891,NA12892,NA18571,NA18576,NA18605,NA18638,NA18856,NA18858,NA19147 esv272232 1 186453056 186453392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582090,essv2582340,essv2582986 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv832093 1 186463731 186631007 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441589 S 95 0 1 "" esv2489885 1 186473911 186475388 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248997 S 1 0 1 "" NA18507 nsv520507 1 186473980 186478715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697460 S 2026 0 1 "" dgv417n71 1 186478715 186580453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872607,nsv872606,nsv872605 M 6533 0 6 "" IS35018,MS16824,MS20630,MS20813,MS22353,MS22705 nsv872608 1 186484042 186629947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533017 S 6533 1 0 "" MS10983 dgv418n71 1 186508137 186585380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872609,nsv872612,nsv872611,nsv872610 M 6533 0 4 "" IS41803,IS41909,MS17216,MS21717 nsv470752 1 186516795 186550462 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547797 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01397 nsv506966 1 186516973 186522973 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620672,nssv619253 M 4 2 0 "" NA10860,NA15510 nsv872613 1 186521786 186875734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550772 S 6533 0 1 "" MS18620 esv27092 1 186591641 186596938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14559 S 451 0 1 "" NA12878 nsv508680 1 186626200 186644877 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618993 S 4 0 1 "" NA10860 nsv825653 1 186640752 186641190 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434209 S 31 1 0 "" NA18570 nsv825664 1 186642815 186643586 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434210 S 31 1 0 "" NA18570 nsv466361 1 186649088 186722032 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541921 S 1557 0 1 "" 1780862574_A dgv419n71 1 186657229 186875734 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872616,nsv872615,nsv872614 M 6533 0 5 "" IS30616,IS31041,IS31044,IS31137,IS36656 nsv466372 1 186679368 186722548 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541931 S 1557 1 0 "" NINDS_272 dgv420n71 1 186695403 186875734 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872619,nsv872617,nsv872618,nsv872620 M 6533 0 9 "" IS30539,IS31179,IS31373,IS35100,IS37060,IS38148,IS39718,IS41043,MS18847 esv273963 1 186704805 186705142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579073,essv2579568 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269638 1 186704812 186705138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557868,essv2575940,essv2540942,essv2542303,essv2536492,essv2522687,essv2556511,essv2568375,essv2577267,essv2548215,essv2535118,essv2551993,essv2520394,essv2547546,essv2529297,essv2558395,essv2577980,essv2519968,essv2564218,essv2555138,essv2530708,essv2528409,essv2539979,essv2552642,essv2562666,essv2578701,essv2569679,essv2541118,essv2542719,essv2570290,essv2556454,essv2527829,essv2567045,essv2534264,essv2522519,essv2573643,essv2529447,essv2575066,essv2560935,essv2572910,essv2560303,essv2545907,essv2574076,essv2551252,essv2535981,essv2548643,essv2554392,essv2525185,essv2563248 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11919,NA11920,NA11931,NA11994,NA11995,NA12043,NA12045,NA12249,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12815,NA12828,NA12872,NA12873,NA12891,NA18489,NA18502,NA18507,NA18510,NA18520,NA18545,NA18550,NA18593,NA18871,NA18907,NA18947,NA18959,NA18960,NA18964,NA19093,NA19102,NA19137,NA19143,NA19190,NA19239,NA19240,NA19257 esv2561236 1 186805616 186807522 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182378 S 1 0 1 "" NA18507 nsv511723 1 186805872 186806997 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626367 S 1 0 1 "" 1 esv1917052 1 186805890 186807038 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979091 S 1 0 1 "" NA18507 esv5133 1 186805990 186806984 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27574 S 1 0 1 Single Asian sample YH "" YH esv1000153 1 186806026 186806987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565370 S 3 0 1 "" HuRef esv9071 1 186806065 186806861 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31512 S 1 0 1 "" SJK esv1675641 1 186806079 186806854 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763450 S 2 0 1 "" HuRef nsv159069 1 186806080 186806854 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177647 M 24 "" esv29759 1 186806093 186806859 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11209 S 451 6 0 "" NA07045,NA18517,NA18909,NA18916,NA19129,NA19225 nsv820674 1 186806093 186806859 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420791 S 1 0 1 "" NA10851 nsv511138 1 186806151 186820222 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624932 S 1 0 1 "" 1 esv271695 1 186815166 186815251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517041 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv520438 1 186838019 186914210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671412,nssv673941 M 2026 0 2 "" esv271543 1 186882525 186882861 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541071,essv2570954,essv2545356,essv2531761,essv2547390,essv2558528,essv2576355,essv2564198,essv2532058,essv2562767,essv2563010,essv2538401,essv2524724,essv2564954,essv2534868,essv2549368,essv2522033,essv2566334,essv2530916,essv2541541,essv2570299,essv2535764,essv2559310,essv2551122,essv2543584,essv2534144,essv2555481,essv2566489,essv2573829,essv2575720,essv2526613,essv2530331,essv2568440,essv2551199,essv2536251,essv2549124,essv2533295 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA11831,NA11993,NA12003,NA12006,NA12717,NA12750,NA12814,NA12828,NA18505,NA18507,NA18532,NA18547,NA18555,NA18558,NA18561,NA18564,NA18571,NA18572,NA18573,NA18592,NA18593,NA18608,NA18638,NA18858,NA18870,NA18916,NA18945,NA18948,NA18951,NA19099,NA19114,NA19141,NA19147,NA19257 dgv421n71 1 186914210 187394747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872623,nsv872621 M 6533 0 2 "" IS31067,IS39011 esv273589 1 186925944 186926234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580876 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv872622 1 186943792 187137106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579382 S 6533 0 1 "" IS35100 nsv470753 1 186950065 187117484 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547798 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199 dgv422n71 1 186978075 187610246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872626,nsv872624,nsv872631 M 6533 0 3 "" MS18620,MS18978,MS22104 dgv45n27 1 187001959 187149660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466417,nsv466450,nsv466428,nsv466439 M 1557 0 4 "" 1782681169_A,HGDP00092,HGDP00948,HGDP01199 nsv872625 1 187013019 187137106 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549441,nssv1598122 M 6533 1 1 "" IS41043,MS18240 nsv508054 1 187024249 187030249 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618516,nssv622302,nssv621485,nssv624228 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv519541 1 187027251 187069165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696909 S 2026 0 1 "" dgv423n71 1 187031166 187478245 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872628,nsv872627,nsv872629 M 6533 4 0 "" IS30589,IS36364,IS38399,IS40068 dgv424n71 1 187039734 187413679 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872630,nsv872633 M 6533 0 3 "" IS31205,MS13480,MS15199 nsv466461 1 187069165 187198451 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542002 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00143 nsv872632 1 187069165 187198451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530094 S 6533 0 1 "" MS10203 dgv425n71 1 187073153 187137106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872634,nsv872635 M 6533 0 2 "" SP56143,SP57469 nsv872636 1 187089017 187149660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505540 S 6533 0 1 "" SP53687 esv271136 1 187099440 187099525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514534,essv2516706,essv2515051,essv2516595,essv2514456 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12812,NA12814,NA12874 esv1493683 1 187099473 187099473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092292 S 2 1 0 "" HuRef dgv21n21 1 187117397 187233979 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526242,nsv517867 M 2026 0 2 "" dgv426n71 1 187164942 187413679 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872640,nsv872638,nsv872639,nsv872637,nsv872644,nsv872643 M 6533 0 13 "" IS31070,IS31166,IS31401,IS31419,IS32607,IS34645,IS36533,IS38463,IS39784,MS10378,MS11669,MS20872,MS25751 nsv520309 1 187167768 187198451 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697339 S 2026 1 0 "" dgv427n71 1 187167768 187722935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872641,nsv872642 M 6533 0 2 "" IS30539,IS33839 dgv428n71 1 187233979 187413679 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872647,nsv872646,nsv872645 M 6533 0 10 "" IS30593,IS31861,IS33196,IS35083,IS35229,IS36244,IS39944,MS15749,MS23670,SP52694 esv267526 1 187247387 187247749 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507213,essv2495563,essv2498874,essv2497736 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18870,NA18916,NA19138,NA19147 esv26996 1 187250900 187304747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9999 S 451 0 1 "" NA18907 nsv516989 1 187261219 187295821 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667276,nssv684062,nssv658943,nssv702010,nssv657759,nssv678891,nssv693225,nssv677977,nssv653563,nssv654370,nssv671281,nssv675301,nssv685022,nssv656605,nssv685262,nssv663717,nssv681795,nssv686696,nssv671254,nssv672974,nssv664098,nssv684158 M 2026 0 22 "" dgv429n71 1 187261219 187394747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872652,nsv872650,nsv872649,nsv872648,nsv872651 M 6533 0 14 "" IS30883,IS30899,IS31330,IS31543,IS31679,IS35107,IS35127,IS36656,IS37999,IS38065,IS38183,MS10098,MS13154,MS13426 esv1953788 1 187261387 187262103 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847135 S 1 0 1 "" NA18507 esv4046 1 187261536 187262000 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26487 S 1 0 1 Single Asian sample YH "" YH esv1005299 1 187261571 187261905 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577446 S 3 0 1 "" HuRef esv1203223 1 187261587 187261922 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813978 S 2 0 1 "" HuRef esv7458 1 187261590 187261908 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29899 S 1 0 1 "" SJK esv2421613 1 187293846 187297986 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5106588,essv5137794,essv5062166,essv5049883,essv5093246,essv5147405,essv5154182,essv5069558,essv5074374,essv5130022,essv5046156,essv5110575,essv5049272 M 1184 0 13 "" NA10839,NA10847,NA11830,NA12005,NA12146,NA12829,NA19035,NA19095,NA20760,NA21479,NA21480,NA21693,NA21717 nsv441725 1 187293847 187297986 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514025 1 187294224 187298000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627881 S 1414 0 1 "" nsv825675 1 187294581 187295150 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426427 S 31 1 0 "" AK6 dgv46n27 1 187294778 187394747 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466483,nsv466472,nsv466494 M 1557 0 3 "" HGDP00213,HGDP00734,NINDS_44 nsv872653 1 187295821 187413679 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593222,nssv1543032,nssv1566328,nssv1566976 M 6533 2 2 "" IS30667,IS31041,IS39373,MS16032 dgv430n71 1 187295821 187604620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872657,nsv872654 M 6533 0 2 "" IS31335,IS36219 esv2126916 1 187299432 187299873 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772813 S 1 0 1 "" NA18507 esv1003838 1 187299613 187299673 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569533 S 3 0 1 "" HuRef esv1420472 1 187299654 187299715 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629856 S 2 0 1 "" HuRef nsv506967 1 187308845 187314845 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619254 S 4 1 0 "" NA10860 nsv872655 1 187311702 187381231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517711 S 6533 0 1 "" SP57367 esv2750818 1 187320829 187745063 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981586,essv6981585,essv6981584,essv6981583,essv6988423 M 771 1 0 "" BEC_303 esv2750819 1 187330954 187604620 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985676,essv6981834 M 771 1 0 "" BEC_492 nsv872656 1 187336160 187525532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587466 S 6533 0 1 "" IS38056 nsv872658 1 187336160 187942039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567174 S 6533 0 1 "" IS31046 esv27295 1 187338531 187344221 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11717 S 451 0 1 "" NA18907 dgv17n17 1 187350141 187367330 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437259,nsv437260 M 60 0 2 "" NA18854,NA18914 esv2130515 1 187351411 187352042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732683 S 1 0 1 "" NA18507 nsv441726 1 187353623 187359115 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv466506 1 187353840 187356191 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542036 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00907 nsv516535 1 187353840 187356191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668968,nssv659106,nssv685805,nssv685684 M 2026 0 4 "" nsv818644 1 187353840 187356191 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417821,nssv1417822 M 112 0 2 "" NA18852,NA18854 nsv514026 1 187354640 187359072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627892 S 1414 0 1 "" nsv521180 1 187448048 187505288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687626,nssv683912 M 2026 0 2 "" dgv431n71 1 187478245 187620835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872659,nsv872661,nsv872660 M 6533 0 3 "" IS33811,MS13154,MS25751 dgv432n71 1 187478245 188015474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872673,nsv872683,nsv872662 M 6533 0 3 "" IS31373,IS34896,MS25617 dgv433n71 1 187505288 187586398 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872663,nsv872664 M 6533 0 6 "" IS31401,IS31679,IS31768,IS33605,IS35100,MS20872 dgv434n71 1 187505288 187617323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872666,nsv872676,nsv872675,nsv872667,nsv872665,nsv872677 M 6533 0 13 "" IS30742,IS30925,IS31054,IS33196,IS33580,IS35229,IS35742,IS36527,IS37999,IS38231,IS39716,IS39944,MS23670 dgv435n71 1 187505288 187656039 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872669,nsv872668 M 6533 0 2 "" IS35127,IS39011 dgv436n71 1 187505288 187722935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872670,nsv872674,nsv872678,nsv872681 M 6533 0 4 "" IS31041,IS31070,IS33340,MS11467 dgv437n71 1 187505288 187886901 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872672,nsv872671,nsv872682,nsv872686,nsv872696 M 6533 0 5 "" IS31169,IS31302,IS41043,MS13400,MS16824 nsv8569 1 187510157 187513781 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23397 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv29027 1 187510432 187514219 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12839 S 451 0 4 "" NA18861,NA18916,NA19114,NA19240 dgv153e1 1 187513156 187779837 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv670,essv2677,essv4457 M 271 0 0 "" NA18552,NA18967,NA18975 dgv154e1 1 187513156 187915951 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3015,esv840 M 271 0 0 "" NA18981 esv274617 1 187513629 187513956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582044,essv2582280 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv267931 1 187513631 187513958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575880,essv2541046,essv2571739,essv2546626,essv2525966,essv2542447,essv2536530,essv2522656,essv2544061,essv2570998,essv2568235,essv2545605,essv2548359,essv2521574,essv2550271,essv2535112,essv2554316,essv2520303,essv2547408,essv2529168,essv2558691,essv2564568,essv2577698,essv2553577,essv2559493,essv2576402,essv2520098,essv2564275,essv2561836,essv2537427,essv2528261,essv2557193,essv2552546,essv2532310,essv2536816,essv2561642,essv2562895,essv2523926,essv2553109,essv2538414,essv2540478,essv2524424,essv2564889,essv2534862,essv2539542,essv2549248,essv2519627,essv2559789,essv2566058,essv2530903,essv2532566,essv2567693,essv2569921,essv2563908,essv2553266,essv2535590,essv2572188,essv2559116,essv2566977,essv2543514,essv2556459,essv2527910,essv2562222,essv2578425,essv2573142,essv2566666,essv2531444,essv2543099,essv2573272,essv2577070,essv2525682,essv2529758,essv2568546,essv2551227,essv2536161,essv2548775,essv2533155,essv2548021,essv2525140,essv2563379,essv2558234 M 157 81 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12045,NA12144,NA12234,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12874,NA12878,NA12891,NA18501,NA18502,NA18505,NA18517,NA18523,NA18532,NA18537,NA18542,NA18547,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18940,NA18942,NA18948,NA18961,NA18965,NA18969,NA18970,NA18980,NA19093,NA19147,NA19257 esv1469745 1 187513662 187513662 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302511 S 2 1 0 "" HuRef nsv466517 1 187531372 187584244 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542045 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00472 dgv438n71 1 187553439 187620835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872679,nsv872680,nsv872684 M 6533 0 8 "" IS36533,MS11306,MS11550,MS13032,MS13148,MS15036,MS17665,MS18332 esv271082 1 187559181 187559485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503045,essv2494635,essv2506096,essv2501001,essv2504613,essv2499753 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18519,NA18523,NA18856,NA19099,NA19225 esv1961007 1 187560116 187560527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855650 S 1 0 1 "" NA18507 nsv872685 1 187560551 187674150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557244 S 6533 0 1 "" MS22524 dgv439n71 1 187574017 187833278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872694,nsv872693,nsv872695,nsv872700,nsv872702,nsv872699,nsv872687,nsv872688,nsv872692,nsv872690,nsv872697,nsv872698,nsv872703,nsv872705 M 6533 0 302 "" IS38191,IS38280,IS40577,IS41603,IS41806,MS10103,MS10119,MS10123,MS10291,MS10351,MS10443,MS10593,MS10636,MS10645,MS10666,MS10721,MS10758,MS10784,MS10948,MS10951,MS11157,MS11237,MS11333,MS11444,MS11632,MS11728,MS12018,MS12423,MS12471,MS12577,MS12634,MS12644,MS12656,MS12722,MS12932,MS12968,MS13177,MS13240,MS13293,MS13401,MS13491,MS13511,MS13621,MS13757,MS13758,MS13777,MS14105,MS14164,MS14250,MS14284,MS14318,MS14326,MS14336,MS14500,MS14679,MS14786,MS14907,MS14986,MS15188,MS15220,MS15234,MS15397,MS15714,MS15768,MS15777,MS15813,MS15984,MS16038,MS16068,MS16126,MS16206,MS16315,MS16393,MS16467,MS16493,MS16591,MS16949,MS17019,MS17067,MS17522,MS17689,MS17696,MS17788,MS17808,MS17819,MS17973,MS18003,MS18192,MS18255,MS18326,MS18407,MS18422,MS18454,MS18533,MS18540,MS18695,MS18752,MS18940,MS18970,MS19301,MS19360,MS19397,MS19599,MS19638,MS19652,MS19721,MS19917,MS20288,MS20630,MS20702,MS20878,MS21017,MS21194,MS21201,MS21244,MS21356,MS21390,MS21863,MS21868,MS21986,MS21992,MS22279,MS22393,MS22448,MS22601,MS22677,MS22742,MS22798,MS22858,MS23212,MS23456,MS23628,MS23702,MS23714,MS23789,MS23879,MS23916,MS24045,MS24051,MS24103,MS24135,MS24139,MS24210,MS24400,MS24503,MS24508,MS24589,MS24670,MS24704,MS24714,MS24781,MS24792,MS24931,MS25172,MS25193,MS25306,MS25633,MS25696,MS25710,MS25782,MS25885,MS26001,MS26128,SP50035,SP50046,SP50118,SP50156,SP50159,SP50544,SP50569,SP50608,SP50623,SP50624,SP50644,SP50713,SP50843,SP51030,SP51060,SP51082,SP51108,SP51143,SP51182,SP51203,SP51237,SP51257,SP51267,SP51345,SP51379,SP51391,SP51460,SP51485,SP52060,SP52263,SP52297,SP52338,SP52399,SP52416,SP52493,SP52506,SP52593,SP52625,SP52627,SP52719,SP52721,SP52731,SP52762,SP52835,SP53276,SP53330,SP53444,SP53449,SP53513,SP53572,SP53616,SP53700,SP53802,SP54047,SP54090,SP54275,SP54285,SP54395,SP54585,SP54645,SP54808,SP54833,SP54891,SP54950,SP55022,SP55167,SP55189,SP55212,SP55256,SP55264,SP55349,SP55436,SP55542,SP55655,SP55660,SP55694,SP55698,SP55764,SP55847,SP55878,SP55971,SP56086,SP56197,SP56348,SP56356,SP56367,SP56390,SP56419,SP56448,SP56505,SP56531,SP56533,SP56543,SP56640,SP56757,SP56780,SP56841,SP56845,SP56851,SP56852,SP56861,SP56862,SP56880,SP56889,SP56922,SP56983,SP56987,SP57009,SP57147,SP57174,SP57193,SP57250,SP57449,SP57575,SP57654,SP57681,SP57856,SP57921,SP57950,SP58168,SP58206,SP58343,SP58502,SP81014,SP81059,SP81106,SP81143,SP81168,SP81212,SP81226,SP81266,SP81335,SP81354,SP81356,SP81409,SP81453,SP81495,SP81543,SP81557 nsv872689 1 187579966 187656039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522959 S 6533 0 1 "" SP53518 dgv9e55 1 187584244 187803966 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34856,esv34517,esv34476,esv34572,esv34601,esv34831 M 771 0 6 "" NA18542,NA18552,NA18562,NA18967,NA18975,NA18981 dgv155e1 1 187584244 187835170 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5425,essv964,essv5879,essv5966,essv1063,essv3253 M 271 0 0 "" NA18542,NA18552,NA18562,NA18967,NA18975,NA18981 dgv440n71 1 187587641 187722935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872691,nsv872701,nsv872704 M 6533 0 9 "" IS36727,MS16066,MS19006,MS20269,MS21738,MS22453,MS22644,MS22959,MS23143 nsv8580 1 187592141 187811572 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22426,nssv26711,nssv23390 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18552,NA18975 nsv825686 1 187592429 187810947 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422402,nssv1436373 M 31 0 2 "" NA18542,NA18552 esv2421925 1 187592960 187810199 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5063692,essv5158877,essv5078526,essv5071189,essv5146478,essv5151080,essv5131558,essv5150416,essv5026478,essv5040633,essv5063265,essv5103107 M 1184 0 12 "" NA17977,NA18101,NA18154,NA18158,NA18542,NA18552,NA18562,NA18954,NA18967,NA18975,NA18981,NA19002 nsv442526 1 187593758 187719766 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514027 1 187595936 187717552 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627903 S 1414 0 1 "" dgv47n27 1 187615085 187810199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466539,nsv466550,nsv466561,nsv466528 M 1557 0 4 "" 1780862003_A,HGDP01097,HGDP01221,HGDP01288 nsv470755 1 187617323 187790275 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544371 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00544 nsv470754 1 187617323 187810199 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547799,nssv544368,nssv544369,nssv544367,nssv544370 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00716,HGDP01186,HGDP01221,HGDP01305,HGDP01323 nsv818655 1 187617323 187810199 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417149 S 112 0 1 "" NA18542 dgv22n21 1 187617323 187866774 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520867,nsv523001 M 2026 0 5 "" essv6767 1 187622891 187779837 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18562 dgv441n71 1 187640923 187815034 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872706,nsv872707 M 6533 0 2 "" MS16708,MS23077 nsv466572 1 187665261 187746901 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542087 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01186 nsv466583 1 187668301 187793884 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542096 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01189 nsv872708 1 187703805 187833278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600922,nssv1589268 M 6533 0 2 "" IS38333,IS41948 dgv48n27 1 187715199 187809352 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466594,nsv466605,nsv466617 M 1557 0 3 "" HGDP00100,HGDP00716,HGDP01323 essv6420 1 187758025 187786871 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18545 nsv872709 1 187779507 187866774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582901 S 6533 0 1 "" IS36219 dgv442n71 1 187779507 187997671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872710,nsv872712,nsv872715 M 6533 0 3 "" IS35083,IS36244,IS39464 dgv443n71 1 187795566 187902915 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872711,nsv872714,nsv872713 M 6533 0 19 "" IS32850,IS33514,IS34066,IS34271,IS34573,IS34779,IS36678,IS37612,IS37979,IS37995,IS38241,IS38330,IS38394,IS38448,IS39348,IS39996,IS41892,MS15600,MS19677 esv1102427 1 187797944 187797944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837312 S 2 1 0 "" HuRef nsv466628 1 187815034 187866774 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542129 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00208 nsv825698 1 187818575 187843728 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428060 S 31 0 1 "" AK10 dgv444n71 1 187835170 188015474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872716,nsv872717,nsv872718,nsv872719 M 6533 0 4 "" IS30925,IS31904,IS34599,IS34658 esv28166 1 187855815 187856298 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18854 S 451 0 1 "" NA18907 nsv8591 1 187884118 187886886 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23999 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 dgv445n71 1 187886901 188008756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872728,nsv872727,nsv872721,nsv872720,nsv872726,nsv872725,nsv872724,nsv872729,nsv872731,nsv872730 M 6533 0 16 "" IS30522,IS30562,IS31094,IS31285,IS31306,IS31401,IS31581,IS31729,IS33616,IS35100,IS35498,IS36170,IS37999,IS38231,MS12947,MS23152 dgv446n71 1 187893806 187946162 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872722,nsv872723 M 6533 0 3 "" IS30824,IS36910,MS15312 nsv470756 1 187897346 187935615 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544372 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01228 nsv872732 1 187919867 188025156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574239 S 6533 0 1 "" IS33533 esv2413913 1 187928118 187928528 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890614 S 1 0 1 "" NA18507 esv1737270 1 187928342 187928409 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303664 S 2 0 1 "" HuRef nsv872733 1 187929464 188000602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593662 S 6533 0 1 "" IS39475 nsv3921 1 187935028 188077261 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3600,nssv7919 M 9 0 2 "" NA12156,NA12878 dgv447n71 1 187946162 188052456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872735,nsv872734 M 6533 0 2 "" IS36179,IS40491 nsv466683 1 187965237 188004012 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542165 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00942 nsv498698 1 187971130 188049982 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585412 S 9 0 1 "" esv22589 1 187971861 188052717 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15213,esv17561,esv21130 M 451 1 2 "" NA12878,NA18517,NA18907 nsv433190 1 187973248 188047656 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463071 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv437313 1 187974590 188046154 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467194 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv438115 1 187978794 188048192 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469552,nssv469574,nssv469541,nssv469563 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv818667 1 187984282 188048192 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416123,nssv1416124 M 112 0 2 "" NA12878,NA12892 nsv522081 1 188003456 188004012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694855 S 2026 0 1 "" essv18023 1 188003456 188048129 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv156e1 1 188003456 188086110 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1108,essv25073 M 271 0 0 "" NA12892 nsv519337 1 188030378 188043864 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694324 S 2026 1 0 "" dgv448n71 1 188030954 188041024 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872736,nsv872741 M 6533 0 2 "" MS10802,SP52704 dgv49n27 1 188031476 188039770 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466705,nsv466694 M 1557 0 2 "" 1780862459_A,NINDS_101 nsv872737 1 188031744 188052456 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521996,nssv1589237,nssv1598055,nssv1540450 M 6533 1 3 "" IS38330,IS41043,MS14848,SP52694 dgv449n71 1 188031744 188056640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872738,nsv872744 M 6533 0 2 "" IS34645,MS23670 dgv450n71 1 188031744 188072422 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872739,nsv872745,nsv872746 M 6533 0 3 "" IS36854,MS12266,MS25751 nsv872740 1 188031744 188150260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503676 S 6533 0 1 "" SP52094 nsv466716 1 188033562 188047656 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542192 S 1557 0 1 "" NINDS_106 dgv451n71 1 188035449 188052456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872742,nsv872743 M 6533 0 5 "" IS31067,IS31302,IS31875,IS36527,IS41068 nsv517396 1 188037441 188043864 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659107,nssv664246,nssv685023,nssv675140,nssv658182,nssv703103,nssv660367,nssv683233,nssv699237,nssv653908,nssv682737,nssv685473,nssv686826,nssv659973,nssv663295,nssv661361,nssv693047,nssv654489,nssv682339,nssv662585,nssv686697,nssv686196,nssv652097,nssv682510,nssv673135,nssv672975,nssv679917,nssv691245,nssv704565,nssv692109,nssv690062,nssv672205,nssv664328 M 2026 6 27 "" nsv818678 1 188037441 188043864 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416628,nssv1416626 M 112 0 2 "" NA19116,NA19119 nsv466728 1 188037441 188046252 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542200 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00927 nsv466739 1 188038628 188039770 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542206 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00473 esv2421356 1 188038628 188043864 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085976,essv5097870,essv5105205,essv5018192,essv5097221,essv5043327,essv5140309,essv5077304,essv5101703,essv5004109,essv5146770,essv5105521,essv5141131,essv5134571 M 1184 0 14 "" NA12878,NA12892,NA18518,NA18519,NA18912,NA19035,NA19101,NA19116,NA19119,NA19127,NA19128,NA19247,NA19249,NA19779 nsv8602 1 188043418 188053310 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26179 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv520978 1 188043864 188052456 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697719 S 2026 1 0 "" nsv470757 1 188046252 188074666 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544373 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00879 nsv825709 1 188052737 188053432 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437978 S 31 1 0 "" NA18951 esv1237537 1 188054081 188054161 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614533 S 2 0 1 "" HuRef nsv8613 1 188057076 188072581 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23077,nssv22417 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA18860 nsv516072 1 188102143 188145217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689230,nssv659097,nssv666025 M 2026 0 3 "" esv269026 1 188149940 188150205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565661,essv2576035,essv2540926,essv2525990,essv2542522,essv2536768,essv2522798,essv2543876,essv2570635,essv2521674,essv2552059,essv2577937,essv2553514,essv2519964,essv2552885,essv2540642,essv2539894,essv2522218,essv2532676,essv2555545,essv2566472,essv2527695,essv2522592,essv2573742,essv2543265,essv2535961,essv2548037,essv2563337 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10847,NA11829,NA11830,NA11831,NA11918,NA11919,NA11920,NA11931,NA11992,NA12044,NA12144,NA12489,NA12761,NA12763,NA12815,NA18542,NA18552,NA18563,NA18571,NA18576,NA18945,NA18948,NA18952,NA18960,NA18964,NA18965 dgv452n71 1 188154338 188289559 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872748,nsv872747 M 6533 0 2 "" IS35911,IS36219 nsv872749 1 188154338 188337542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567631,nssv1554585 M 6533 0 2 FAM5C IS31137,MS20872 nsv508055 1 188169223 188175223 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618517 S 4 0 1 "" CHM nsv872750 1 188189031 188235314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593023 S 6533 0 1 "" IS39336 esv6730 1 188211505 188211593 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29171 S 1 1 0 "" SJK dgv157e1 1 188225729 188261835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7508,esv1119,essv6109 M 271 0 0 "" NA18532,NA18573 essv7486 1 188226540 188251536 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18561 esv2226258 1 188227774 188228187 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804953 S 1 0 1 "" NA18507 esv35062 1 188236966 188251966 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988202,essv6979582 M 771 0 1 "" NA18573 nsv441727 1 188236989 188253049 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv2705 1 188237023 188258690 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18944 nsv872751 1 188240480 188337542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583760,nssv1558460,nssv1569943,nssv1552817 M 6533 0 4 FAM5C IS31758,IS36656,MS19634,MS23290 nsv8624 1 188242496 188251062 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22107 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv832104 1 188256771 188453331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441590 S 95 1 0 FAM5C esv2750820 1 188264680 188318734 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981914,essv6989542 M 771 0 1 "" BEC_501 esv1068626 1 188269479 188269479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174688 S 2 1 0 "" HuRef nsv506968 1 188271434 188277434 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619255,nssv620673,nssv617544 M 4 3 0 "" CHM,NA10860,NA15510 nsv825720 1 188273908 188274403 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431856 S 31 1 0 "" AK20 nsv518715 1 188276324 188309329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696166 S 2026 0 1 "" nsv872752 1 188293682 188337542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551267,nssv1568091,nssv1574699 M 6533 0 3 FAM5C IS31205,IS33616,MS18847 esv2510247 1 188318805 188321334 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164364 S 1 0 1 "" NA18507 esv2249912 1 188319131 188320687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789387 S 1 0 1 "" NA18507 nsv872753 1 188330788 188402434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584015 S 6533 0 1 FAM5C IS36787 nsv872754 1 188346359 190381429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553990 S 6533 0 1 FAM5C,LOC440704 MS20503 nsv161162 1 188349585 188349654 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179740 M 24 FAM5C nsv872755 1 188402434 188453010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582716 S 6533 0 1 FAM5C IS36105 nsv3932 1 188414363 188448644 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3611 S 9 1 0 FAM5C NA12878 nsv872756 1 188431398 188554336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582903 S 6533 0 1 FAM5C IS36219 dgv90n67 1 188576412 188578377 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825731,nsv825742 M 31 0 4 FAM5C AK14,AK18,AK6,NA18949 nsv872757 1 188618300 188685276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546047 S 6533 0 1 FAM5C MS17114 nsv872758 1 188618300 188776626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594928 S 6533 0 1 FAM5C IS40067 nsv872759 1 188638294 188712721 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544492 S 6533 1 0 FAM5C MS16357 esv24408 1 188643382 188648109 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17886 S 451 1 0 FAM5C NA07045 nsv872760 1 188644611 188843959 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560846 S 6533 1 0 FAM5C MS24733 nsv872761 1 188656364 188751657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574700 S 6533 0 1 FAM5C IS33616 dgv453n71 1 188656364 188798265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872763,nsv872762,nsv872764 M 6533 0 3 FAM5C IS32615,IS33533,SP54030 nsv872765 1 188685276 188731270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515037 S 6533 0 1 FAM5C SP56116 dgv50n27 1 188700036 188762630 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466772,nsv466750 M 1557 0 2 FAM5C HGDP00088,HGDP00963 nsv470758 1 188722749 188776626 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544374 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01222 nsv872766 1 188739350 188780806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531247 S 6533 0 1 "" MS10386 esv275092 1 188796113 188827385 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586131 S 1250 0 1 "" nsv523002 1 188798265 188882260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698674 S 2026 0 1 LOC440704 nsv872767 1 188800334 188930912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590082 S 6533 1 0 LOC440704 IS38457 esv2074455 1 188864441 188864860 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939031 S 1 0 1 LOC440704 NA18507 esv1455241 1 188864661 188864725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367341 S 2 0 1 LOC440704 HuRef nsv872768 1 188882260 188968753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569058 S 6533 0 1 LOC440704 IS31419 dgv454n71 1 188882260 189061056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872772,nsv872771,nsv872774,nsv872769 M 6533 0 4 LOC440704 IS31581,IS37226,IS39011,MS20872 nsv508681 1 188899807 188904272 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622781 S 4 0 1 LOC440704 NA18994 nsv466783 1 188902403 188946473 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542249 S 1557 0 1 LOC440704 NINDS_94 nsv872770 1 188903739 189002080 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583245,nssv1568357 M 6533 1 1 LOC440704 IS31259,IS36364 nsv872773 1 188903739 189256379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541086 S 6533 0 1 LOC440704 MS15199 esv26660 1 188905023 188913430 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12516 S 451 1 0 LOC440704 NA12156 nsv470759 1 188917072 188946473 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544375 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC440704 HGDP01301 nsv524018 1 188921943 188948447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699879 S 2026 0 1 LOC440704 dgv455n71 1 188921943 188968753 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872776,nsv872782,nsv872781,nsv872775,nsv872777 M 6533 0 7 LOC440704 IS30824,IS30925,IS31070,IS31194,IS31563,IS33616,MS18978 dgv456n71 1 188921943 188979923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872783,nsv872778 M 6533 0 2 LOC440704 IS35717,IS41224 dgv457n71 1 188921943 189002080 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872779,nsv872784 M 6533 0 9 LOC440704 IS31054,IS40067,IS41068,MS13727,MS15036,MS18843,MS18847,MS25751,SP52694 nsv872780 1 188925052 188954081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517533 S 6533 0 1 LOC440704 SP57314 dgv51n27 1 188925052 188954476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466861,nsv466872,nsv466850 M 1557 0 3 LOC440704 HGDP00090,HGDP00154,HGDP00189 nsv466883 1 188930912 188985655 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542333 S 1557 0 1 LOC440704 NINDS_147 nsv466916 1 188942159 189036417 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542354 S 1557 0 1 LOC440704 1780862202_A nsv872785 1 188948447 189011413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596173,nssv1571084 M 6533 2 0 LOC440704 IS32538,IS40429 nsv466927 1 188950886 188985655 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542365 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC440704 HGDP00003 nsv508056 1 188974297 188980297 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621486 S 4 0 1 LOC440704 NA15510 nsv832115 1 188981293 189134568 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441591,nssv1441592,nssv1441593 M 95 0 3 LOC440704 nsv832126 1 188982063 189140621 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441595,nssv1441594 M 95 1 1 LOC440704 nsv526834 1 189036417 189040452 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703191 S 2026 1 0 LOC440704 esv1755755 1 189063283 189063283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345819 S 2 1 0 "" HuRef nsv825753 1 189080321 189080855 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423165 S 31 1 0 "" NA18999 nsv872786 1 189099637 189188342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561200 S 6533 0 1 "" MS24875 esv5406 1 189103890 189104171 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27847 S 1 0 1 Single Asian sample YH "" YH esv1740573 1 189103945 189104116 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182932 S 2 0 1 "" HuRef nsv872787 1 189117603 189219622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595323 S 6533 1 0 "" IS40226 esv272560 1 189141039 189141227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580325,essv2579319,essv2579768 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv267985 1 189141047 189141385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576089,essv2525969,essv2542438,essv2522958,essv2571031,essv2568424,essv2523084,essv2521703,essv2525370,essv2535477,essv2551991,essv2547425,essv2529348,essv2558302,essv2577885,essv2553874,essv2559653,essv2565481,essv2564064,essv2530792,essv2521026,essv2552432,essv2558833,essv2523894,essv2541261,essv2542680,essv2561040,essv2539633,essv2519882,essv2559929,essv2522207,essv2565928,essv2532678,essv2541875,essv2553508,essv2535647,essv2572321,essv2559066,essv2550867,essv2527987,essv2562416,essv2533970,essv2578498,essv2527728,essv2555824,essv2534388,essv2531508,essv2573737,essv2572145,essv2525608,essv2526813,essv2575134,essv2574893,essv2548140,essv2571396,essv2545750,essv2574477,essv2551605,essv2536252,essv2548779,essv2554735,essv2524897,essv2557901 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07357,NA10851,NA11830,NA11918,NA11919,NA11931,NA11993,NA11995,NA12004,NA12144,NA12156,NA12249,NA12489,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12828,NA12873,NA18498,NA18502,NA18516,NA18537,NA18545,NA18550,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18576,NA18592,NA18605,NA18608,NA18609,NA18638,NA18858,NA18907,NA18909,NA18916,NA18940,NA18952,NA18956,NA18959,NA18961,NA18964,NA18973,NA18980,NA19005,NA19102,NA19138,NA19210,NA19238,NA19239,NA19240,NA19257 nsv508682 1 189142050 189182667 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618994 S 4 0 1 "" NA10860 nsv872788 1 189163482 189960083 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526143 S 6533 1 0 "" SP57044 nsv506969 1 189173229 189179229 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623287 S 4 1 0 "" NA18994 esv2963 1 189177067 189177570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25404 S 1 0 1 Single Asian sample YH "" YH dgv458n71 1 189190460 189256379 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872789,nsv872792 M 6533 0 2 "" IS38065,SP55694 dgv459n71 1 189190460 189289216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872790,nsv872791 M 6533 0 2 "" IS30432,IS36219 nsv872793 1 189201006 189372649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565756 S 6533 0 1 "" IS30522 esv1565959 1 189218748 189218846 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036805 S 2 0 1 "" HuRef nsv825764 1 189317790 189323329 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425540 S 31 1 0 "" AK4 esv1145096 1 189355341 189355341 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220325 S 2 1 0 "" HuRef nsv872794 1 189383650 189658286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569242 S 6533 0 1 "" IS31554 nsv872795 1 189403447 190186025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546048 S 6533 0 1 "" MS17114 nsv3943 1 189415800 189460670 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7927 S 9 0 1 "" NA12156 dgv460n71 1 189465656 189628673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872796,nsv872797 M 6533 0 4 "" SP50182,SP50637,SP51016,SP55460 nsv872798 1 189487529 189695104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597744,nssv1567468,nssv1580712,nssv1583086 M 6533 0 4 "" IS31090,IS35439,IS36245,IS41172 nsv872799 1 189514509 189616237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594930 S 6533 0 1 "" IS40067 dgv461n71 1 189553597 189704522 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872802,nsv872801,nsv872800 M 6533 0 7 "" IS31044,IS31581,IS35145,IS38065,IS41043,MS15749,MS18978 nsv872803 1 189553597 189757817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565452 S 6533 0 1 "" IS30432 nsv470761 1 189567753 189659146 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544376 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226 nsv160872 1 189590608 189597774 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179450 M 24 "" nsv470762 1 189616236 189696846 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544378 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 nsv818689 1 189616237 189638488 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417276 S 112 1 0 "" NA18593 dgv462n71 1 189672990 190070888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872808,nsv872804 M 6533 0 2 "" IS31046,IS31179 nsv466961 1 189695104 189772596 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542397 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00885 esv2750821 1 189726451 189888415 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983933,essv6983932,essv6987448 M 771 1 0 "" BEC_735 nsv470763 1 189729097 189787929 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544379 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 dgv463n71 1 189729097 189979258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872805,nsv872807,nsv872806 M 6533 0 3 "" IS31044,IS31302,IS35911 esv2542984 1 189743611 189744534 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338076 S 1 1 0 "" NA18507 esv271816 1 189744057 189744390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577271,essv2548615,essv2576671,essv2520610,essv2547532,essv2578069,essv2562109,essv2520891,essv2557325,essv2557058,essv2551763,essv2532327,essv2562707,essv2569255,essv2578671,essv2538973,essv2569725,essv2527055,essv2544679,essv2539908,essv2519733,essv2566270,essv2567938,essv2528855,essv2563840,essv2566828,essv2550958,essv2568955,essv2556301,essv2528155,essv2573964,essv2556093,essv2534192,essv2529645,essv2538556,essv2526662,essv2572657,essv2545239,essv2560253,essv2549721,essv2571143,essv2545708,essv2574448,essv2551437 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12045,NA12154,NA12716,NA12717,NA12761,NA12874,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18519,NA18520,NA18522,NA18526,NA18563,NA18566,NA18572,NA18577,NA18579,NA18603,NA18853,NA18858,NA18861,NA18871,NA18907,NA18951,NA18956,NA18959,NA19093,NA19108,NA19114,NA19143,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272791 1 189744057 189744390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584383,essv2584584,essv2583669 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv519339 1 189748055 189844015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696800 S 2026 0 1 "" esv1155637 1 189812612 189812674 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855175 S 2 0 1 "" HuRef nsv160380 1 189812613 189812674 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178958 M 24 "" nsv872809 1 189824724 189955998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517712 S 6533 0 1 "" SP57367 nsv872810 1 189824724 190182745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581055 S 6533 0 1 "" IS35498 esv268893 1 189835471 189835841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509106,essv2504616,essv2506882,essv2501895 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19099,NA19102,NA19239 esv274671 1 189835479 189835821 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579199 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv272236 1 189847343 189847529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580666,essv2579061,essv2579496 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268076 1 189847374 189847709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558193,essv2565882,essv2540921,essv2526190,essv2536634,essv2522974,essv2543976,essv2571037,essv2556523,essv2568353,essv2545342,essv2532008,essv2548541,essv2576524,essv2550686,essv2525525,essv2535411,essv2554047,essv2544254,essv2520587,essv2564437,essv2577697,essv2553755,essv2554846,essv2530809,essv2537328,essv2528588,essv2546891,essv2557323,essv2536853,essv2561384,essv2542620,essv2564790,essv2549596,essv2519908,essv2559886,essv2532858,essv2568040,essv2567365,essv2570297,essv2563887,essv2535518,essv2572556,essv2556339,essv2529941,essv2534279,essv2531523,essv2573338,essv2543401,essv2526829,essv2529677,essv2560547,essv2574776,essv2571205,essv2554551,essv2563377 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA10851,NA11829,NA11831,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12751,NA12761,NA12763,NA12872,NA12873,NA12878,NA12891,NA12892,NA18499,NA18517,NA18523,NA18550,NA18558,NA18564,NA18566,NA18570,NA18576,NA18577,NA18582,NA18593,NA18603,NA18608,NA18609,NA18871,NA18949,NA18959,NA18961,NA18964,NA18965,NA19005,NA19093,NA19116,NA19138,NA19238 esv1269596 1 189847404 189847404 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824187 S 2 1 0 "" HuRef dgv464n71 1 189853595 189960083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872813,nsv872812,nsv872811 M 6533 0 4 "" IS30539,IS30597,IS36170,IS38263 nsv825775 1 189878297 189881039 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421491 S 31 0 1 "" NA18997 dgv465n71 1 189882278 189936999 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872815,nsv872814 M 6533 0 2 "" MS11669,MS19634 dgv466n71 1 189882278 189979258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872817,nsv872816,nsv872819 M 6533 0 5 "" IS30616,IS32607,IS33605,IS38065,IS39100 dgv467n71 1 189882278 190075783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872818,nsv872820 M 6533 0 2 "" IS39666,MS18620 nsv466972 1 189899969 189934536 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542408 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00241 esv27256 1 189923760 189927690 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19563 S 451 0 1 "" NA07045 nsv428279 1 189955869 190281235 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452587 S 62 0 1 "" NA18916 nsv511724 1 189973915 189976504 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626368 S 1 0 1 "" 1 esv2421589 1 189983338 189992781 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5105400,essv5127293,essv5024226,essv5020195,essv5118567,essv5153002,essv5157423,essv5127876,essv5096530,essv5147488,essv5124211,essv5138188,essv5028778,essv5083050,essv5054656,essv5105467 M 1184 0 16 "" NA18519,NA18855,NA18910,NA18911,NA19028,NA19044,NA19206,NA19208,NA19328,NA19380,NA19472,NA19712,NA19908,NA19919,NA20350,NA21339 nsv441728 1 189983338 189992781 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514917 1 189983360 189992432 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628459 S 1414 0 0 "" nsv517577 1 189986050 189988086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652420,nssv693927,nssv663568,nssv674400,nssv689210,nssv675013,nssv667910 M 2026 0 7 "" esv26465 1 189992637 189993625 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11031 S 451 1 0 "" NA12749 nsv872821 1 190022535 190090491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582905 S 6533 0 1 "" IS36219 nsv872822 1 190022535 190131723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594580,nssv1568907 M 6533 0 2 "" IS31373,IS39944 nsv470764 1 190039595 190142375 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544381,nssv544380,nssv544382,nssv544383 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00928,HGDP00944,HGDP01216,HGDP01283 dgv158e1 1 190044143 190092375 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1682,esv1363 M 271 0 0 "" NA18992 nsv872823 1 190045294 190177842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583033 S 6533 0 1 "" IS36244 esv7413 1 190053274 190053840 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29854 S 1 0 1 "" SJK nsv818700 1 190065587 190107549 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417651 S 112 0 1 "" NA18992 esv2627445 1 190083622 190084618 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285083 S 1 1 0 "" NA18507 esv272971 1 190084016 190084359 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581677,essv2582307,essv2583042 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271372 1 190084022 190084363 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565675,essv2526312,essv2536562,essv2556519,essv2568108,essv2545284,essv2523116,essv2554028,essv2551980,essv2520393,essv2558460,essv2578089,essv2559532,essv2537334,essv2528326,essv2546997,essv2527331,essv2544701,essv2541169,essv2538342,essv2540228,essv2524526,essv2561103,essv2539784,essv2560073,essv2522052,essv2565907,essv2531036,essv2532487,essv2528850,essv2567393,essv2553376,essv2527831,essv2578331,essv2573089,essv2555515,essv2566467,essv2527545,essv2522343,essv2573374,essv2574662,essv2572854,essv2533041,essv2547787 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA11829,NA11918,NA11920,NA11994,NA11995,NA12003,NA12004,NA12287,NA12489,NA12716,NA12750,NA12761,NA12776,NA12878,NA12891,NA12892,NA18522,NA18526,NA18545,NA18547,NA18552,NA18555,NA18562,NA18563,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18605,NA18907,NA18940,NA18942,NA18945,NA18948,NA18952,NA18960,NA18964,NA19138,NA19143 nsv516096 1 190086504 190142375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686095,nssv680850,nssv677013,nssv659732,nssv669667,nssv652591,nssv674466,nssv676918,nssv673888,nssv681417,nssv671681,nssv680900,nssv663258,nssv668039,nssv686543,nssv680928,nssv687279,nssv676403,nssv662068,nssv669953,nssv652497,nssv692926,nssv653202,nssv674888,nssv652447,nssv677501,nssv671538,nssv668149,nssv679918,nssv665353,nssv684929,nssv688146,nssv688215,nssv665791,nssv693158,nssv686520,nssv662182,nssv673577,nssv664133,nssv671458,nssv664020,nssv669182,nssv685719,nssv665890,nssv666333,nssv685474,nssv666810,nssv675918,nssv658201,nssv688251,nssv680386,nssv681775,nssv665605,nssv671282,nssv664908,nssv662005 M 2026 0 56 "" esv26733 1 190093186 190135085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14099 S 451 0 3 "" NA18861,NA18916,NA19114 nsv442538 1 190095692 190133873 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514028 1 190102352 190132432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627914 S 1414 0 1 "" dgv4n64 1 190102939 190134703 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818722,nsv818711 M 112 0 4 "" NA18852,NA19119,NA19140,NA19142 nsv466983 1 190102939 190134936 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542419 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00928 nsv872824 1 190116387 190170615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567632 S 6533 0 1 "" IS31137 nsv872825 1 190135064 190241760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568266 S 6533 0 1 "" IS31228 nsv872826 1 190135064 190341517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582309 S 6533 0 1 "" IS35911 nsv526835 1 190177842 190182745 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703192 S 2026 1 0 "" esv2529301 1 190182320 190185682 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249079 S 1 0 1 "" NA18507 esv2256052 1 190183010 190185370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690106 S 1 0 1 "" NA18507 esv3128 1 190183023 190185251 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25569 S 1 0 1 Single Asian sample YH "" YH esv28736 1 190183033 190185190 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13278,esv10320,esv13460 M 451 19 5 "" NA06985,NA07045,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18511,NA18858,NA18861,NA18909,NA18916,NA19099,NA19147,NA19190,NA19240 nsv820473 1 190183033 190185190 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420802 S 1 0 1 "" NA10851 nsv825786 1 190183033 190185190 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440164,nssv1422403,nssv1424784,nssv1434852,nssv1438616,nssv1425542,nssv1434211,nssv1439494,nssv1436375,nssv1424423,nssv1437951,nssv1432452 M 31 0 12 "" AK2,AK4,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18592,NA18947,NA18972,NA18973 nsv825797 1 190183421 190184153 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428856 S 31 0 1 "" AK12 dgv91n67 1 190183421 190188978 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825831,nsv825820,nsv825809 M 31 3 0 "" NA18949,NA18969,NA18997 nsv470765 1 190190867 190284246 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544384 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv872827 1 190194876 190299763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562470 S 6533 0 1 "" MS25617 nsv832137 1 190197667 190335756 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441597 S 95 1 0 "" nsv518617 1 190220298 190250481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696065 S 2026 0 1 "" nsv872828 1 190241760 190341517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567063 S 6533 0 1 "" IS31044 esv1337831 1 190458854 190458854 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826350 S 2 1 0 "" HuRef esv1707380 1 190458890 190458890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024410 S 2 1 0 "" HuRef nsv516881 1 190472655 190481687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693366,nssv654658,nssv680901,nssv683874,nssv678838 M 2026 0 5 "" dgv468n71 1 190496712 190636733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872830,nsv872829 M 6533 0 2 RGS21 IS36219,MS10727 esv274130 1 190508841 190509068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579221 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271432 1 190599270 190599355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516405 S 157 1 0 Samples from several populations that are part of the HapMap project. RGS21 NA12814 nsv466994 1 190629938 191787958 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542430 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations B3GALT2,CDC73,GLRX2,MIR1278,RGS1,RGS13,RGS2,TROVE2,UCHL5 HGDP01156 nsv517084 1 190685545 190685868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653761,nssv696512,nssv681730 M 2026 0 3 "" nsv159529 1 190792424 190792424 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178107 M 24 "" nsv3954 1 190797114 190827415 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11135 S 9 1 0 RGS1 NA15510 nsv467005 1 190816535 190891983 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542441 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RGS13 HGDP01348 nsv516016 1 190837330 190838734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670902,nssv665741 M 2026 0 2 "" esv275434 1 190851418 190865084 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585745,essv2586017 M 1250 1 1 "" esv2283787 1 190876225 190876680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967758 S 1 0 1 RGS13 NA18507 esv991606 1 190876423 190876488 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582085 S 3 0 1 RGS13 HuRef esv1739511 1 190876423 190876489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256350 S 2 0 1 RGS13 HuRef esv23407 1 190941841 190950169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18975 S 451 0 1 "" NA19099 esv2613604 1 191068631 191068704 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245479 S 1 0 1 "" NA18507 esv33012 1 191109505 191110023 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101434,essv98727,essv100687,essv100972,essv98222,essv94068,essv94424,essv96980,essv98937,essv93299,essv99601,essv99256,essv99472,essv98434,essv96248 M 51 0 15 "" 21603,21606,21656,21693,21772,21802,21808,21817,21938,22170,22217,22275,22335,22352,22371 esv28558 1 191127054 191128549 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20998 S 451 0 1 "" NA19190 nsv519451 1 191147324 191154968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674228,nssv695356,nssv688081,nssv656226,nssv702332 M 2026 0 5 "" nsv498699 1 191237059 191260247 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585413 S 9 0 1 UCHL5 nsv3966 1 191243080 191271509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7935 S 9 0 1 UCHL5 NA12156 esv2550406 1 191324346 191325882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211210 S 1 0 1 TROVE2 NA18507 nsv832148 1 191410568 191559520 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441598 S 95 1 0 B3GALT2,CDC73 nsv872831 1 191418940 191588710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527663 S 6533 1 0 B3GALT2,CDC73 SP80917 esv275335 1 191422066 191426334 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585653,essv2586068 M 1250 1 1 B3GALT2,CDC73 esv275411 1 191458005 191460723 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586110,essv2585325 M 1250 1 1 CDC73 nsv506970 1 191466854 191472854 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623288,nssv620674,nssv619256 M 4 3 0 CDC73 NA10860,NA15510,NA18994 esv275037 1 191479821 191491706 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585209 S 1250 0 1 CDC73 esv2428735 1 191501620 191503027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381954 S 1 0 1 "" NA18507 esv4633 1 191501802 191502336 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27074 S 1 0 1 Single Asian sample YH "" YH esv2270512 1 191501872 191502460 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829107 S 1 0 1 "" NA18507 esv5959 1 191502047 191502294 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28400 S 1 0 1 "" SJK nsv832159 1 191609057 191791695 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441599 S 95 1 0 "" nsv832170 1 191693078 191862805 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441600 S 95 1 0 "" esv7457 1 191781838 191782368 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29898 S 1 0 0 "" SJK esv2511346 1 191808559 191811317 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272018 S 1 0 1 "" NA18507 esv267904 1 191816207 191822297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506162 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18523 esv33988 1 191892800 191900885 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99184 S 51 0 1 "" 22275 esv34989 1 191897200 191976819 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987880,essv6980937,essv6980936 M 771 0 1 "" NA19152 dgv159e1 1 191898151 191976819 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7933,essv9475,essv12442,esv1030 M 271 0 0 "" NA19152,NA19154,NA19209 nsv441729 1 191927641 191976999 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv872832 1 191928249 192117030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588460 S 6533 0 1 "" IS38207 dgv10e55 1 191929899 191976819 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34261,esv34863 M 771 0 2 "" NA19154,NA19209 esv273681 1 191941700 191941870 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580067,essv2580365,essv2579946,essv2580706 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv270646 1 191941731 191942017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2554141,essv2569370,essv2540333,essv2562298,essv2531596,essv2575662,essv2568448,essv2571212 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA18508,NA18552,NA18909,NA18961,NA19099,NA19147,NA19238 nsv872833 1 191948248 192040706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533066 S 6533 0 1 "" MS11002 esv268381 1 192013948 192019717 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514421 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv270905 1 192044830 192045015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510176,essv2496685,essv2505490,essv2495350,essv2508886,essv2500249,essv2502799,essv2494155,essv2502936,essv2509761,essv2496286,essv2505988,essv2498635,essv2503081,essv2503515,essv2493068,essv2504695,essv2499816 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA12154,NA12287,NA12878,NA12891,NA12892,NA18502,NA18507,NA18508,NA18511,NA18523,NA18858,NA18943,NA18947,NA18951,NA19099,NA19225 esv274292 1 192044890 192045006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578938 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv872834 1 192156156 192748927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540062 S 6533 1 0 "" MS14679 esv3183 1 192265651 192266862 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25624 S 1 0 1 Single Asian sample YH "" YH nsv819881 1 192265661 192266599 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419128 S 2 0 1 "" AK1 nsv825842 1 192265689 192266182 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427295,nssv1429598,nssv1423166,nssv1431114 M 31 0 4 "" AK14,AK18,AK8,NA18999 nsv872835 1 192280664 192318191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565714 S 6533 0 1 "" IS30508 esv275445 1 192288608 192293566 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585755,essv2585452 M 1250 1 1 "" nsv467016 1 192289441 192304513 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542452 S 1557 0 1 "" NINDS_29 nsv872836 1 192299109 192396827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597698 S 6533 0 1 "" IS41263 nsv522962 1 192302571 192303277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698631 S 2026 0 1 "" esv271412 1 192334447 192334533 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2524518,essv2539641,essv2522005,essv2535540,essv2577043,essv2571917 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18555,NA18563,NA18571,NA18608,NA18970,NA18973 nsv832181 1 192355740 192522238 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441601 S 95 0 1 "" nsv872837 1 192372903 192488132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584429 S 6533 0 1 "" IS36992 dgv469n71 1 192472961 192686928 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872839,nsv872838 M 6533 0 2 "" IS30597,IS33811 dgv470n71 1 192488132 192601530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872841,nsv872840,nsv872842 M 6533 0 4 "" IS30146,IS32615,IS40067,MS12266 nsv872843 1 192488132 192773605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546049 S 6533 0 1 "" MS17114 nsv825853 1 192496305 192498409 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423994 S 31 0 1 "" NA18582 dgv471n71 1 192498656 192635465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872844,nsv872846,nsv872847 M 6533 0 4 "" IS32166,IS35083,IS37226,MS18978 nsv508057 1 192503089 192509089 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624229,nssv618518,nssv622303 M 4 0 3 "" CHM,NA10860,NA18994 nsv467027 1 192518444 192574825 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542463 S 1557 0 1 "" 1780854477_A nsv522808 1 192534024 192554519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698454 S 2026 0 1 "" nsv525365 1 192534024 192763213 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701485 S 2026 1 0 "" nsv872845 1 192536078 192601530 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545660,nssv1563493,nssv1550775,nssv1565453,nssv1543033 M 6533 2 3 "" IS30432,MS16032,MS16898,MS18620,MS26061 esv1098342 1 192539424 192539424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311940 S 2 1 0 "" HuRef esv1293163 1 192539483 192539483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196178 S 2 1 0 "" HuRef esv1348959 1 192539577 192539577 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103658 S 2 1 0 "" HuRef dgv472n71 1 192559132 192609782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872848,nsv872850 M 6533 0 3 "" IS31812,IS33839,MS15199 nsv872849 1 192562151 192601530 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542623,nssv1521998,nssv1568561,nssv1549442,nssv1572472,nssv1570079,nssv1599570,nssv1579459,nssv1598429,nssv1587235,nssv1577756,nssv1569530,nssv1578660 M 6533 7 6 "" IS31306,IS31617,IS31799,IS33073,IS34555,IS34856,IS35107,IS37999,IS41189,IS41687,MS15808,MS18240,SP52694 dgv473n71 1 192562151 192635465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872852,nsv872851 M 6533 0 8 "" IS35498,IS36981,IS38263,IS39011,IS39718,IS41094,MS17642,MS18648 nsv872853 1 192562151 192686928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569312 S 6533 0 1 "" IS31563 dgv474n71 1 192562151 192919278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872855,nsv872856,nsv872858,nsv872854 M 6533 0 4 "" IS30522,IS35145,MS18847,SP50554 nsv872857 1 192575331 192662165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515327 S 6533 0 1 "" SP56172 esv2037082 1 192607540 192607944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696923 S 1 0 1 "" NA18507 esv991854 1 192616176 192618212 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586885 S 3 1 0 "" HuRef nsv825864 1 192616176 192618286 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433458 S 31 0 1 "" NA18526 esv2483589 1 192617028 192618844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391971 S 1 0 1 "" NA18507 esv26515 1 192617034 192618267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13611 S 451 0 5 "" NA18523,NA18861,NA19114,NA19129,NA19240 nsv521911 1 192622198 192702964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694682 S 2026 0 1 "" nsv872859 1 192643779 192857024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574702 S 6533 0 1 "" IS33616 nsv467049 1 192670196 192712089 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542484 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00005 esv21589 1 192716897 192721360 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15761,esv17563 M 451 9 12 "" NA06985,NA07037,NA11931,NA11995,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA18508,NA18517,NA18523,NA18861,NA18916,NA19099,NA19114,NA19147,NA19240,NA19257 nsv820647 1 192716897 192721360 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420813 S 1 0 1 "" NA10851 nsv825875 1 192716897 192721360 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435687,nssv1440165,nssv1434899,nssv1422404,nssv1423167,nssv1427297,nssv1440850,nssv1426429,nssv1437979,nssv1423995,nssv1424435,nssv1433459,nssv1432463 M 31 0 13 "" AK6,AK8,NA18526,NA18552,NA18564,NA18566,NA18582,NA18942,NA18947,NA18951,NA18969,NA18972,NA18999 nsv511725 1 192716995 192721121 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626369 S 1 0 1 "" 1 esv1224680 1 192717106 192717106 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845343 S 2 1 0 "" HuRef nsv819066 1 192717156 192721514 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419631 S 2 0 1 "" AK1 nsv508683 1 192717197 192742459 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618996,nssv622782 M 4 0 2 "" NA10860,NA18994 esv994739 1 192717609 192727751 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564582 S 3 0 1 "" HuRef esv1000815 1 192717643 192719944 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587073 S 3 0 1 "" HuRef nsv825886 1 192717643 192719944 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428857,nssv1423819,nssv1439495,nssv1424785,nssv1438617,nssv1434212,nssv1434963,nssv1436376,nssv1437258,nssv1421493,nssv1429599,nssv1428061,nssv1431857,nssv1425543,nssv1431115,nssv1437963,nssv1430383 M 31 0 17 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,NA18537,NA18542,NA18547,NA18570,NA18592,NA18949,NA18968,NA18973,NA18997 esv995329 1 192718148 192719537 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586366 S 3 0 1 "" HuRef dgv475n71 1 192748927 193190662 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872863,nsv872860,nsv872862,nsv872871 M 6533 0 4 "" IS31205,IS40067,MS13480,MS18620 nsv511009 1 192769100 192783732 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622428 S 4 0 0 "" NA10860 dgv476n71 1 192773605 193012944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872861,nsv872866,nsv872867 M 6533 0 4 "" IS33475,IS34896,IS35572,IS38065 nsv825897 1 192775599 192776285 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425544 S 31 1 0 "" AK4 esv3697 1 192784153 192784552 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26138 S 1 0 1 Single Asian sample YH "" YH esv6762 1 192784219 192784506 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29203 S 1 0 1 "" SJK esv994716 1 192784231 192784490 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571949 S 3 0 1 "" HuRef esv1186873 1 192784231 192784491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791875 S 2 0 1 "" HuRef nsv467072 1 192792510 192904379 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542502 S 1557 0 1 "" NINDS_95 nsv872864 1 192803708 192851600 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591977,nssv1570080,nssv1565637 M 6533 1 2 "" IS30490,IS31799,IS39119 dgv477n71 1 192803708 192919278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872865,nsv872870,nsv872868 M 6533 0 3 "" IS31259,IS34962,MS12827 nsv467094 1 192809906 192851600 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542512 S 1557 0 1 "" 1780854061_A nsv467105 1 192809906 192873605 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542523 S 1557 0 1 "" 1780862001_A dgv478n71 1 192813390 192902103 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872869,nsv872872 M 6533 0 2 "" MS15199,MS17114 nsv872873 1 192839565 192969492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586413 S 6533 1 0 "" IS37776 nsv872874 1 192857024 192919278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591816 S 6533 0 1 "" IS39046 nsv872875 1 192857024 192943594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530290 S 6533 1 0 "" MS10296 nsv832192 1 192862083 193042287 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441602 S 95 0 1 "" esv2423930 1 192904125 192906059 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5394106 S 1 0 0 "" NA18507 esv8306 1 192905314 192905512 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30747 S 1 0 0 "" SJK esv1757669 1 192905328 192905328 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633315 S 2 1 0 "" HuRef esv267612 1 192941731 192942062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571573,essv2521287,essv2536632,essv2544028,essv2521876,essv2550479,essv2554032,essv2544319,essv2547220,essv2529199,essv2558292,essv2564733,essv2553670,essv2559666,essv2555151,essv2537545,essv2528356,essv2539019,essv2552977,essv2538330,essv2561045,essv2539920,essv2549436,essv2560124,essv2522120,essv2566137,essv2531235,essv2532871,essv2553182,essv2555410,essv2534354,essv2573522,essv2572077,essv2575220,essv2574716,essv2572679,essv2533279,essv2547819,essv2525011 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA07357,NA11840,NA11894,NA11920,NA11992,NA12144,NA12234,NA12287,NA12414,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12872,NA12878,NA12891,NA18519,NA18542,NA18547,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18605,NA18943,NA18959,NA18964,NA18973,NA19102,NA19138,NA19143 esv272199 1 192941732 192942063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581875,essv2582555 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv479n71 1 192943594 193204866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872876,nsv872879,nsv872883 M 6533 0 3 "" IS35100,MS17114,MS17697 dgv480n71 1 192945843 193136123 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872880,nsv872881,nsv872878,nsv872877 M 6533 0 5 "" IS31330,IS32150,IS37730,IS39046,IS41068 nsv872882 1 192990984 193176987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530291 S 6533 1 0 "" MS10296 esv32801 1 193032557 193033134 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98895 S 51 0 1 "" 21606 nsv519014 1 193034608 193099113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696482 S 2026 0 1 "" nsv467116 1 193037956 193099113 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542524 S 1557 0 1 "" 1780862176_A nsv872884 1 193049690 193285409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564844 S 6533 0 1 "" IS30311 nsv832204 1 193065192 193205943 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441603 S 95 1 0 "" dgv481n71 1 193068738 193165816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872885,nsv872886 M 6533 0 4 "" IS30532,IS33830,IS39081,SP52723 esv2505447 1 193068771 193075402 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251873 S 1 0 1 "" NA18507 esv2407337 1 193069009 193074751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558107 S 1 0 1 "" NA18507 dgv482n71 1 193085819 193204866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872888,nsv872887 M 6533 0 2 "" IS38630,IS39475 nsv872889 1 193124043 193285409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597426 S 6533 0 1 "" IS40890 nsv467138 1 193134533 193176987 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542525 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00910 nsv872890 1 193136123 193190662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500234 S 6533 0 1 "" SP50120 nsv872891 1 193137217 193204866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504520 S 6533 1 0 "" SP52559 esv2305556 1 193147467 193147872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959593 S 1 0 1 "" NA18507 esv1002178 1 193147646 193147695 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572108 S 3 0 1 "" HuRef nsv832215 1 193169591 193372757 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441604 S 95 0 1 "" esv271423 1 193175526 193175652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498514,essv2507184,essv2513364,essv2499820 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA18870,NA18907,NA19225 esv273162 1 193201240 193202281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580663 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv23079 1 193202778 193212714 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16266 S 451 0 1 "" NA18861 nsv514029 1 193204688 193212864 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627925 S 1414 0 1 "" dgv160e1 1 193204702 193209527 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9553,essv11310,esv1343 M 271 0 0 "" NA18861,NA18863 esv2421352 1 193204702 193211845 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5082513,essv5061809,essv5092356,essv5045511,essv5087663,essv5064475,essv5063516,essv5102606,essv5089204,essv5010319,essv5004491,essv5105120,essv5143291,essv5141746,essv5158624,essv5150435,essv5129658,essv5078602,essv5070555,essv5010687,essv5041470,essv5021532,essv5090729,essv5006790,essv5065598,essv5105546 M 1184 0 26 "" NA18498,NA18861,NA18863,NA18912,NA18923,NA18925,NA19334,NA19439,NA19457,NA19819,NA20349,NA20350,NA21297,NA21336,NA21378,NA21415,NA21436,NA21447,NA21448,NA21453,NA21455,NA21493,NA21494,NA21583,NA21632,NA21738 nsv441730 1 193204702 193213877 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv872892 1 193211845 193298040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553747,nssv1585335,nssv1581700 M 6533 0 3 "" IS35701,IS37428,MS20286 nsv872893 1 193263108 193370276 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559236 S 6533 1 0 "" MS23791 nsv515886 1 193271678 193285727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660551,nssv665143,nssv692441,nssv688609,nssv680761,nssv686061 M 2026 0 6 "" esv24667 1 193280577 193286328 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12756 S 451 0 1 "" NA15510 nsv441731 1 193280600 193285922 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv467160 1 193309000 193361603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542526 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01323 esv2421573 1 193319225 193339540 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084818,essv5099376,essv5040061,essv5135312,essv5149799,essv5144151,essv5033574,essv5065030,essv5159210,essv5006565,essv5021105,essv5144237,essv5140811,essv5126555,essv5120462,essv5134311,essv5011246,essv5150895,essv5025213,essv5156747,essv5084097,essv5110540 M 1184 22 0 "" NA20301,NA20530,NA21303,NA21311,NA21320,NA21352,NA21365,NA21384,NA21385,NA21386,NA21387,NA21414,NA21435,NA21440,NA21442,NA21457,NA21476,NA21512,NA21514,NA21526,NA21527,NA21683 nsv872894 1 193319844 194012591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541089 S 6533 0 1 "" MS15199 nsv872895 1 193320000 193373846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514819,nssv1515081 M 6533 0 2 "" SP56085,SP56120 nsv872896 1 193325494 193431315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556543,nssv1568776,nssv1574241 M 6533 0 3 "" IS31338,IS33533,MS22104 dgv483n71 1 193325494 193602140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872897,nsv872904 M 6533 0 2 "" IS31205,IS41113 nsv872898 1 193325494 193743320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600757 S 6533 0 1 "" IS41924 esv2350559 1 193337023 193337420 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923992 S 1 0 1 "" NA18507 nsv872899 1 193349361 193408010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530292 S 6533 1 0 "" MS10296 dgv484n71 1 193349361 193431315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872903,nsv872900,nsv872901,nsv872902 M 6533 0 6 "" IS30302,IS33864,IS39450,IS39464,IS39475,MS12071 nsv467172 1 193349361 193452046 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542528 S 1557 0 1 "" 1780862598_A nsv3977 1 193349822 193384930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv402 S 9 1 0 "" NA19240 esv259547 1 193350804 193351148 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394205,essv2393885,essv2393856,essv2394077,essv2394393 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv259804 1 193350813 193351157 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400041,essv2394786,essv2400257,essv2396031,essv2398100,essv2396828,essv2396797,essv2398678,essv2400754,essv2399163,essv2399738,essv2397348,essv2401052,essv2396965,essv2397679,essv2396118,essv2400700,essv2398413,essv2398521,essv2400854,essv2399853,essv2398847,essv2398940,essv2399003,essv2395744,essv2399938,essv2399409,essv2395471,essv2394556,essv2401021,essv2397032,essv2400486 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11829,NA12003,NA12144,NA12155,NA12249,NA12489,NA12717,NA12776,NA12828,NA12878,NA12891,NA12892,NA18502,NA18523,NA18542,NA18552,NA18562,NA18564,NA18573,NA18582,NA18603,NA18605,NA18853,NA18856,NA18858,NA18948,NA18965,NA19099,NA19239,NA19240 dgv92n67 1 193354585 193357699 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825920,nsv825908 M 31 0 4 "" AK18,NA18542,NA18564,NA18969 nsv528855 1 193379326 193412546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705534 S 2026 0 1 "" esv23243 1 193410966 193412542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13215 S 451 0 1 "" NA11993 dgv52n27 1 193433534 193547047 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467183,nsv467194 M 1557 0 2 "" 1780862001_A,1798860071_A nsv872905 1 193452046 193539719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594275,nssv1569858 M 6533 0 2 "" IS31729,IS39759 nsv470766 1 193458316 193643595 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544385 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv872906 1 193472504 193577075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538399 S 6533 0 1 "" MS13727 dgv485n71 1 193489203 193577075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872907,nsv872908,nsv872909 M 6533 0 3 "" IS31369,MS17114,MS17642 dgv53n27 1 193489203 193653520 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467205,nsv467216 M 1557 2 0 "" HGDP00700,HGDP00737 nsv470767 1 193489203 193653520 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544386 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00700 nsv872910 1 193493084 193653520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550777 S 6533 0 1 "" MS18620 nsv467227 1 193498690 193547047 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542570 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00141 dgv486n71 1 193499635 193539719 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872911,nsv872912 M 6533 0 2 "" SP54510,SP56307 dgv54n27 1 193514061 193570098 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467238,nsv467249 M 1557 0 2 "" 1782681295_A,HGDP00146 dgv161e1 1 193522550 193846835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11638,esv392 M 271 0 0 "" NA19154 esv268886 1 193525579 193525664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517144 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv872913 1 193535733 193606974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600495 S 6533 0 1 "" IS41892 nsv467260 1 193539719 193606974 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542597 S 1557 0 1 "" 1780854299_A esv6709 1 193545655 193545733 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29150 S 1 1 0 "" SJK nsv523106 1 193563750 193579730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698803 S 2026 0 1 "" nsv872914 1 193563750 193828978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598270 S 6533 0 1 "" IS41292 dgv487n71 1 193570098 193743320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872918,nsv872920,nsv872916,nsv872917,nsv872915,nsv872919,nsv872921 M 6533 0 17 "" IS36600,MS10061,MS10330,MS10636,MS10737,MS12545,MS12614,MS14653,MS14933,MS15509,MS16309,MS16591,MS17706,MS19119,MS21722,MS25447,MS26121 nsv508058 1 193614244 193620244 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618519 S 4 0 1 "" CHM dgv488n71 1 193616776 193710725 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872922,nsv872923 M 6533 0 3 "" IS30522,IS33935,IS34360 esv22005 1 193626367 193631867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15951 S 451 0 1 "" NA18523 nsv516252 1 193629627 193630035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667077,nssv675919 M 2026 0 2 "" nsv520255 1 193638023 193643595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697310 S 2026 0 1 "" dgv489n71 1 193653520 193828978 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872928,nsv872924,nsv872926,nsv872927 M 6533 0 4 "" IS31205,IS31302,IS39464,MS17114 nsv872925 1 193674030 193793701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574342 S 6533 0 1 "" IS33545 nsv8635 1 193674157 193687457 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23707,nssv23990 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA19240 esv2421828 1 193676328 193682368 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057820,essv5116615,essv5024823,essv5066895,essv5060218,essv5016964,essv5007537,essv5095569,essv5083643,essv5090612,essv5019058,essv5013793,essv5054205,essv5075769,essv5073752,essv5002936,essv5038365,essv5128885,essv5027970,essv5071460,essv5138200,essv5136325,essv5152164,essv5069851 M 1184 0 24 "" NA18487,NA18488,NA18504,NA18516,NA18855,NA18868,NA18869,NA18874,NA18914,NA19028,NA19031,NA19096,NA19097,NA19116,NA19120,NA19238,NA19240,NA19317,NA19385,NA19445,NA19678,NA19680,NA19914,NA20291 nsv442547 1 193676328 193682368 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23081 1 193676715 193681254 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12901 S 451 0 1 "" NA19240 nsv514030 1 193676864 193680096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627936 S 1414 0 1 "" dgv490n71 1 193704659 193828978 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872931,nsv872933,nsv872935,nsv872936,nsv872934,nsv872930,nsv872929 M 6533 0 8 "" IS30539,IS32289,IS32615,IS33879,IS35498,IS38219,MS11467,MS17697 nsv524595 1 193713909 193715393 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700555 S 2026 0 1 "" nsv872932 1 193713909 194002693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583034 S 6533 0 1 "" IS36244 nsv872937 1 193760161 194115651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585678 S 6533 1 0 "" IS37612 nsv872938 1 193772740 193828978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532307 S 6533 0 1 "" MS10756 nsv832226 1 193776648 193945479 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441605 S 95 0 1 "" nsv872939 1 193785291 193843003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539338 S 6533 1 0 "" MS14304 esv29297 1 193792850 193798040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17413 S 451 0 1 "" NA18511 nsv525247 1 193793701 193843003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701340 S 2026 0 1 "" esv2616501 1 193806571 193808066 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352380 S 1 0 1 "" NA18507 nsv508684 1 193810758 193815383 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622783 S 4 0 1 "" NA18994 nsv509568 1 193823809 193860680 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623806 S 4 1 0 "" NA18994 nsv872940 1 193872058 193935379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503677 S 6533 0 1 "" SP52094 nsv467271 1 193915986 193953824 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542608 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00542 nsv825931 1 193965582 193966333 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431858 S 31 1 0 "" AK20 nsv872941 1 194036827 194086960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518974 S 6533 0 1 "" SP80925 esv269783 1 194061512 194061944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499058,essv2497670,essv2499770 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19114,NA19147,NA19225 dgv162e1 1 194070387 194386077 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv790,essv3111 M 271 0 0 "" NA18969 nsv470768 1 194070767 194138918 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544387,nssv544389 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199,HGDP01226 nsv8646 1 194073998 194083144 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24293,nssv23700,nssv24008,nssv27935,nssv26389 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18564,NA18942,NA18972,NA18975,NA19240 dgv491n71 1 194077826 194115651 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv872943,nsv872942 M 6533 3 0 "" MS17112,SP52454,SP54023 nsv825942 1 194087487 194088220 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440854 S 31 0 1 "" NA18969 dgv492n71 1 194093361 194125645 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872946,nsv872944 M 6533 0 2 "" IS41921,MS18978 nsv872945 1 194093361 194148082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574158,nssv1578424,nssv1589297 M 6533 0 3 "" IS33519,IS34775,IS38335 nsv520252 1 194097653 194138918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685236,nssv679938,nssv682532,nssv662120,nssv705379,nssv701920 M 2026 0 6 "" nsv467284 1 194098876 194135746 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542621 S 1557 0 1 "" 1780854128_A nsv872947 1 194098876 194148082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530293 S 6533 1 0 "" MS10296 nsv8658 1 194099267 194102370 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23387 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv8669 1 194119821 194123099 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27297 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv55n27 1 194119842 194138918 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467317,nsv467328 M 1557 0 2 "" 1780854401_A,HGDP01226 nsv525153 1 194133073 194197619 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701225 S 2026 1 0 "" nsv872948 1 194138918 194503048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585679 S 6533 1 0 KCNT2 IS37612 esv35094 1 194140966 194286966 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987036,essv6980209,essv6980210 M 771 1 0 "" NA18969 nsv825953 1 194148904 194150073 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434213 S 31 0 1 "" NA18570 essv3604 1 194157865 194287158 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18969 nsv825964 1 194164899 194282303 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440855 S 31 1 0 "" NA18969 nsv470769 1 194168299 194454288 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544390,nssv544391 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00877,HGDP01267 nsv467339 1 194179202 194385933 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542658 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01267 nsv516448 1 194195172 194195839 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658551,nssv676919,nssv668468 M 2026 3 0 "" nsv525903 1 194195839 194197619 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702107 S 2026 1 0 "" essv25108 1 194204325 194208650 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12814 dgv163e1 1 194206452 194207943 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6058,essv21362 M 271 0 0 "" NA10860,NA18603 essv18802 1 194206452 194208650 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12248 nsv872949 1 194207132 194266131 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530294 S 6533 1 0 "" MS10296 nsv872950 1 194208441 194262571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581352 S 6533 0 1 "" IS35572 nsv467350 1 194216906 194258256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542668 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01238 nsv467361 1 194239910 194270398 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542677 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01330 nsv8680 1 194270654 194278071 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22437 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv3988 1 194279134 194313676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3621 S 9 1 0 "" NA12878 nsv825975 1 194284607 194287555 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428858 S 31 0 1 "" AK12 nsv872951 1 194294495 194432901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530295 S 6533 1 0 "" MS10296 esv1079277 1 194420170 194420170 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177021 S 2 1 0 "" HuRef esv1182970 1 194424682 194424959 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188176 S 2 0 1 "" HuRef esv1007482 1 194424682 194425045 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563967 S 3 0 1 "" HuRef nsv872952 1 194441413 194570846 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533868 S 6533 1 0 KCNT2 MS11312 nsv832237 1 194472297 194595123 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441606 S 95 1 0 KCNT2 nsv469680 1 194526469 194685639 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649611 M 265 1 12 Samples from several populations that are part of the HapMap project. KCNT2 nsv872953 1 194553262 194677904 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568908 S 6533 0 1 KCNT2 IS31373 nsv872954 1 194571486 194654432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542171 S 6533 0 1 KCNT2 MS15704 nsv872955 1 194606278 194641403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517713,nssv1499551 M 6533 0 2 KCNT2 SP50128,SP57367 dgv493n71 1 194606278 194677904 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872956,nsv872957 M 6533 0 4 KCNT2 IS32615,IS35717,IS37065,IS38148 esv1430984 1 194672852 194672852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715872 S 2 1 0 KCNT2 HuRef nsv508685 1 194790653 194817603 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618997 S 4 0 1 KCNT2 NA10860 nsv528460 1 194809190 195713325 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705062 S 2026 1 0 ASPM,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,CRB1,F13B,KCNT2,MIR4735,ZBTB41 esv1933670 1 194813744 194814171 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830445 S 1 0 1 KCNT2 NA18507 dgv164e1 1 194857460 195079405 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24041,essv18966 M 271 0 0 CFH,CFHR1,CFHR3 NA10859,NA12005 nsv428290 1 194857460 195228425 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452698,nssv452687,nssv452809,nssv452675,nssv452842 M 62 1 4 CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5 HGDP01094,NA18916,NA19096,NA19108,NA19147 esv743 1 194857460 195436395 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ASPM,CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,F13B,ZBTB41 nsv825986 1 194866523 194869392 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437259 S 31 0 1 "" NA18949 esv29712 1 194869365 194870659 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17409 S 451 0 1 "" NA11993 nsv872958 1 194882461 194911740 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503533 S 6533 1 0 CFH SP52077 nsv872959 1 194886343 194926884 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519134 S 6533 1 0 CFH SP80957 nsv872960 1 194887844 194907880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515840 S 6533 0 1 CFH SP56294 nsv872961 1 194899093 194911740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513385,nssv1515057 M 6533 0 2 CFH SP55749,SP56119 nsv872962 1 194899093 194959282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517714 S 6533 0 1 CFH SP57367 nsv872963 1 194902093 194916194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513909 S 6533 0 1 CFH SP55878 nsv872964 1 194902093 194927588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505272 S 6533 1 0 CFH SP53347 nsv818733 1 194908856 194926884 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417376 S 112 1 0 CFH NA18944 nsv872965 1 194908856 195046511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598971 S 6533 0 1 CFH,CFHR3 IS40890 nsv872966 1 194909603 194924902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506576 S 6533 0 1 CFH SP54381 nsv872967 1 194910385 194919457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503510 S 6533 0 1 CFH SP52077 nsv818744 1 194918455 194926884 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418249 S 112 1 0 CFH NA19092 nsv872968 1 194919245 194952294 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503534 S 6533 1 0 CFH SP52077 nsv825997 1 194919587 194921083 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423996 S 31 0 1 CFH NA18582 nsv872969 1 194921615 194928236 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507065 S 6533 0 1 CFH SP54468 dgv494n71 1 194922894 194928236 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872970,nsv872973 M 6533 12 6 CFH SP50637,SP50753,SP51140,SP53448,SP53969,SP54294,SP54477,SP54585,SP54665,SP54816,SP54967,SP55077,SP55102,SP56005,SP56120,SP56136,SP56173,SP56396 nsv872971 1 194922894 194978880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514500 S 6533 0 1 CFH SP56007 nsv872972 1 194923293 194951478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507534 S 6533 0 1 CFH SP54614 nsv872974 1 194923360 194929082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501531 S 6533 1 0 CFH SP50766 nsv872975 1 194923360 194937380 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515799,nssv1499954,nssv1505648,nssv1503454,nssv1515718,nssv1511152,nssv1518041,nssv1510477,nssv1515170,nssv1502281,nssv1499817,nssv1515529,nssv1501005,nssv1502537,nssv1506439,nssv1502332,nssv1515207,nssv1515328,nssv1504747,nssv1514018 M 6533 12 8 CFH SP50137,SP50690,SP50796,SP50798,SP50914,SP51244,SP52058,SP52719,SP53791,SP54350,SP54956,SP54988,SP55883,SP56132,SP56138,SP56172,SP56223,SP56260,SP56271,SP57449 dgv495n71 1 194923687 194928236 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872978,nsv872976 M 6533 0 2 CFH SP56224,SP57379 dgv496n71 1 194923687 194937380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872980,nsv872979,nsv872977 M 6533 0 4 CFH SP51489,SP56126,SP56185,SP57472 esv1247490 1 194928478 194928478 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300078 S 2 1 0 CFH HuRef nsv469810 1 194936133 195082994 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649831 M 265 0 3 Samples from several populations that are part of the HapMap project. CFH,CFHR1,CFHR3 nsv471614 1 194936134 195221853 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549513,nssv549511,nssv549502,nssv549506,nssv549505,nssv549512,nssv549501,nssv550686,nssv550687,nssv549503,nssv549507,nssv550688,nssv549504,nssv550689,nssv549508,nssv549510,nssv549509 M 48 2 11 CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5 JK1051,JK1058,JK1061,JK776,NA10469,NA10470,NA10471,NA10472,NA10493,NA10496,NA15729,NA17014,P86GA nsv872981 1 194943336 194951198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508281 S 6533 0 1 CFH SP54665 nsv872982 1 194959093 194960717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517777 S 6533 1 0 CFH SP57367 dgv165e1 1 194959471 195109794 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16638,essv582,essv16118,essv10557,essv856,essv24463,essv9086,essv9847,essv54,essv2821,essv11512,essv19871,essv23052,essv24414,essv12059,essv4653,essv12577,essv15828,essv24869,essv12109,essv11293,essv8977,essv9691,essv17884,essv17128,essv22379,essv9517,essv10029,essv21525,essv10333,essv18122 M 271 0 0 CFH,CFHR1,CFHR3 NA07000,NA11881,NA11993,NA12003,NA12056,NA12707,NA12812,NA12873,NA12875,NA18506,NA18521,NA18594,NA18863,NA18913,NA18987,NA18991,NA18998,NA19000,NA19098,NA19099,NA19100,NA19132,NA19139,NA19142,NA19144,NA19171,NA19173,NA19223,NA19238,NA19240 dgv166e1 1 194959471 195228425 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5403,essv15721,essv22902,essv5527,essv22036,essv6144,essv12171,essv9217,essv16415,essv17545,essv2000,essv23383,essv11283,essv4058,essv19423,essv2969,essv17743,essv10633,essv23965,essv19522,essv1173,essv16752,essv4686,essv6595,essv2874,essv5234,essv20000,essv16922,essv389 M 271 0 0 CFH,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5 NA07048,NA10831,NA11840,NA12154,NA12750,NA12760,NA12762,NA12814,NA12864,NA18529,NA18532,NA18563,NA18621,NA18622,NA18624,NA18635,NA18855,NA18872,NA18949,NA18951,NA18953,NA18971,NA18981,NA19101,NA19128,NA19131,NA19139,NA19144,NA19204 dgv497n71 1 194960384 194973959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872984,nsv872983,nsv872987 M 6533 0 3 CFH SP54614,SP56172,SP57367 nsv872985 1 194963498 195046511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599697 S 6533 0 1 CFH,CFHR3 IS41771 dgv498n71 1 194963498 195104683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv872990,nsv872991,nsv872989,nsv872986 M 6533 0 4 CFH,CFHR1,CFHR3 IS31729,IS33839,IS38065,IS41862 nsv872988 1 194969433 194988631 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505273 S 6533 1 0 CFH SP53347 nsv826008 1 194975094 195095411 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421494,nssv1422405,nssv1439497,nssv1435688,nssv1434900 M 31 0 5 CFH,CFHR1,CFHR3 NA18537,NA18552,NA18566,NA18942,NA18997 dgv167e1 1 194975846 195068235 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25131,essv12896,essv15157,essv11332,essv8002,essv11072,essv14840,essv25164,essv10514,essv15974,essv16577,essv17396,essv14957,essv18518,essv13991,essv20529,essv8897,essv17360,essv24614,essv14227,essv16182 M 271 0 0 CFH,CFHR1,CFHR3 NA10856,NA11839,NA12716,NA12763,NA12875,NA18506,NA18517,NA18522,NA18855,NA18913,NA19098,NA19119,NA19128,NA19132,NA19138,NA19142,NA19143,NA19171,NA19193,NA19210,NA19221 dgv168e1 1 194975846 195182982 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13235,essv19727,essv8588,essv6214,essv13407,essv6527,essv25182,essv5655,essv752,essv3443,essv12151 M 271 0 0 CFH,CFHR1,CFHR2,CFHR3,CFHR4 NA10859,NA11840,NA18505,NA18526,NA18563,NA18611,NA18872,NA18956,NA19003,NA19130,NA19131 esv26552 1 194976941 195185893 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17256,esv20484,esv19830,esv12084,esv17551 M 451 15 11 CFH,CFHR1,CFHR2,CFHR3,CFHR4 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12239,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18861,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240 nsv8691 1 194977387 195194521 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24893,nssv28153,nssv22750,nssv22765,nssv23059,nssv22757,nssv27417,nssv24302,nssv27036,nssv19768,nssv26732,nssv21396,nssv20739,nssv21400,nssv23697,nssv26872,nssv23369,nssv19760,nssv21399,nssv23998,nssv23083,nssv26558,nssv24583,nssv22095,nssv21761,nssv20755,nssv24592,nssv21069,nssv19438,nssv21760,nssv21066,nssv20090,nssv26721,nssv26562,nssv24295,nssv23075,nssv25173,nssv25453,nssv23393,nssv26385,nssv24898,nssv27529,nssv26717,nssv21395,nssv22422,nssv27639,nssv26851,nssv22745,nssv28018,nssv24001,nssv28103 M 31 15 10 Samples from several populations that are part of the HapMap project. CFH,CFHR1,CFHR2,CFHR3,CFHR4 NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 dgv499n71 1 194977690 195104683 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv872995,nsv872994,nsv872993,nsv872992 M 6533 36 92 CFH,CFHR1,CFHR3 IS30082,IS30235,IS30567,IS30597,IS30766,IS30884,IS31326,IS31359,IS31373,IS31401,IS31546,IS31649,IS31652,IS31835,IS32015,IS32282,IS32343,IS32382,IS32517,IS32680,IS32699,IS33027,IS33073,IS33115,IS33150,IS33208,IS33219,IS33258,IS33419,IS33522,IS33665,IS33788,IS33846,IS33890,IS34005,IS34141,IS34497,IS34684,IS34748,IS34756,IS34872,IS35162,IS35263,IS35297,IS35319,IS35505,IS35565,IS35646,IS35670,IS35973,IS36170,IS36312,IS36320,IS36911,IS36936,IS37144,IS37404,IS37415,IS37730,IS37850,IS37860,IS37874,IS37891,IS38052,IS38093,IS38098,IS38113,IS38166,IS38182,IS38202,IS38338,IS38350,IS38457,IS38479,IS38601,IS39057,IS39081,IS39100,IS39503,IS39516,IS39527,IS39528,IS39678,IS39759,IS39832,IS39838,IS39916,IS40038,IS40063,IS40227,IS40247,IS40342,IS40346,IS40416,IS40440,IS40616,IS40678,IS40703,IS40795,IS40818,IS40828,IS40839,IS40847,IS40854,IS41041,IS41273,IS41634,IS41664,IS41687,IS41729,IS41782,IS41785,IS41808,IS41809,IS41832,IS41906,MS10733,MS12968,MS13025,MS14495,MS18886,MS18947,MS19008,MS21258,MS21458,MS25308,SP52378,SP52902 dgv500n71 1 194977690 195183076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873007,nsv873005,nsv873004,nsv872996 M 6533 0 5 CFH,CFHR1,CFHR2,CFHR3,CFHR4 SP52612,SP53347,SP54469,SP56950,SP58373 dgv501n71 1 194977690 195199868 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873019,nsv872997 M 6533 4 13 CFH,CFHR1,CFHR2,CFHR3,CFHR4 IS31133,IS31980,IS33262,IS33587,IS38403,IS39666,IS40573,IS41511,IS41948,MS11552,MS12905,MS17271,MS18779,MS20771,MS24854,SP56690,SP56957 nsv517662 1 194977690 195204159 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653014,nssv690860,nssv670751,nssv683039,nssv686247,nssv659463,nssv661866,nssv686478,nssv691800,nssv691995,nssv667817,nssv675277,nssv682340,nssv661312,nssv672206,nssv654208,nssv683833,nssv686574,nssv691893,nssv658360,nssv657391,nssv654895,nssv672958,nssv672723,nssv682460,nssv685788,nssv672882,nssv667636,nssv662553,nssv688785,nssv680731,nssv660285,nssv673551,nssv670627,nssv683875,nssv654942,nssv672799,nssv675192,nssv682278,nssv671425,nssv681886,nssv654398,nssv690089,nssv680461,nssv665964,nssv660533,nssv662918,nssv683794,nssv687921,nssv654769,nssv693421,nssv682511,nssv666065,nssv693684,nssv683373,nssv651925,nssv680789,nssv663103,nssv661893,nssv681662,nssv654982,nssv672822,nssv683756,nssv690431,nssv690907,nssv689994,nssv680369,nssv668575,nssv693393,nssv674229,nssv701939,nssv655141,nssv659933,nssv672911,nssv652755,nssv676069,nssv662830,nssv691509,nssv688588,nssv666917,nssv663315,nssv656134,nssv671682,nssv668873,nssv677519,nssv678800,nssv658117,nssv684708,nssv656959,nssv692864,nssv681618,nssv668040,nssv668121,nssv678060,nssv682103,nssv663228,nssv673198,nssv656317,nssv692982,nssv665742,nssv654746,nssv676100,nssv683502,nssv667438 M 2026 7 97 CFH,CFHR1,CFHR2,CFHR3,CFHR4 nsv872998 1 194977806 194984260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512214 S 6533 0 1 CFH SP55346 esv1001500 1 194977976 195095855 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565522 S 3 0 1 CFH,CFHR1,CFHR3 HuRef dgv502n71 1 194979786 194988631 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873000,nsv872999 M 6533 0 2 CFH SP54477,SP54516 nsv471393 1 194979967 195005989 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548200,nssv548189 M 3 CFH dgv503n71 1 194980348 195037161 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873008,nsv873001,nsv873002 M 6533 0 10 CFH,CFHR3 SP50063,SP50144,SP50631,SP52094,SP54575,SP54587,SP54648,SP56116,SP56246,SP57297 nsv819563 1 194983118 195078925 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418766 S 2 1 0 CFH,CFHR1,CFHR3 AK1 nsv436214 1 194983337 195066235 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465868 S 2 0 1 Samples from several populations that are part of the HapMap project. CFHR1,CFHR3 NA18505 nsv820836 1 194983700 195088441 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420824 S 1 0 1 CFHR1,CFHR3 NA10851 nsv3999 1 194984098 195187683 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9650,nssv4885,nssv9383,nssv10420,nssv2644,nssv6046 M 9 0 6 CFHR1,CFHR2,CFHR3,CFHR4 NA12156,NA18507,NA18517,NA18555,NA18956,NA19129 nsv873003 1 194984812 195046511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513815 S 6533 1 0 CFHR3 SP55847 nsv498700 1 194988828 195075129 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585414 S 9 0 1 CFHR1,CFHR3 nsv433191 1 194989670 195037748 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463072 S 9 0 1 Samples from several populations that are part of the HapMap project. CFHR3 NA18517 dgv504n71 1 194989670 195077621 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873015,nsv873009,nsv873010,nsv873011,nsv873006,nsv873012,nsv873016,nsv873014 M 6533 0 21 CFHR1,CFHR3 SP50523,SP50593,SP50997,SP51086,SP51338,SP51411,SP51481,SP52020,SP52904,SP53402,SP53601,SP54516,SP54606,SP54661,SP55642,SP55763,SP55971,SP56307,SP57507,SP80924,SP80936 esv2421560 1 194989670 195082414 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084394,essv5065002,essv5151876,essv5030693,essv5027584,essv5142566,essv5078176,essv5117262,essv5019675,essv5107261,essv5035584,essv5039160,essv5094659,essv5025438,essv5120930,essv5155275,essv5136144,essv5058151,essv5095089,essv5158248,essv5018273,essv5062409,essv5022685,essv5004679,essv5052676,essv5025273,essv5120359,essv5101112,essv5029634,essv5077068,essv5048551,essv5015513,essv5153708,essv5125770,essv5159754,essv5068712,essv5076996,essv5132847,essv5015232,essv5057140,essv5049750,essv5012447,essv5082912,essv5100895,essv5159490,essv5042839,essv5159194,essv5033675,essv5137267,essv5127887,essv5053433,essv5057906,essv5022881,essv5111008,essv5059563,essv5075731,essv5065674,essv5153243,essv5141015,essv5114621,essv5112230,essv5144050,essv5066689,essv5061258,essv5051454,essv5048601,essv5057430,essv5041576,essv5146563,essv5017467,essv5064189,essv5154295,essv5013564,essv5157218,essv5112319,essv5009271,essv5043335,essv5080543,essv5136131,essv5158921,essv5104904,essv5098270,essv5002950,essv5093914,essv5141294,essv5142639,essv5154683,essv5036801,essv5158446,essv5031642,essv5145460,essv5020164,essv5117709,essv5070259,essv5036609,essv5052564,essv5149561,essv5060374,essv5045360,essv5112916,essv5159431,essv5040903,essv5098710,essv5083644,essv5060410,essv5018385,essv5121464,essv5143761,essv5158335,essv5159012,essv5148199,essv5020575,essv5080491,essv5107083,essv5106742,essv5106730,essv5092145,essv5010211,essv5026457,essv5121228,essv5055808,essv5008305,essv5044728,essv5011576,essv5130321,essv5073159,essv5082058,essv5002687,essv5014669,essv5091081,essv5124505,essv5058304,essv5101414,essv5021737,essv5070937,essv5058393,essv5003444,essv5127969,essv5068338,essv5063907,essv5087151,essv5085335,essv5023001,essv5076168,essv5017700,essv5085205,essv5127637,essv5070147,essv5010064,essv5011899,essv5030025,essv5061089,essv5025044,essv5142243,essv5045371,essv5009277,essv5037029,essv5120506,essv5081774,essv5088468,essv5133415,essv5107278,essv5019232,essv5061154,essv5002696,essv5143224,essv5019414,essv5010243,essv5049199,essv5079375,essv5041289,essv5120108,essv5007145,essv5160066,essv5099270,essv5094300,essv5140139,essv5032415,essv5114725,essv5090307,essv5155424,essv5081478,essv5050329,essv5142026,essv5130781,essv5055458,essv5141211,essv5149326,essv5085745,essv5097436,essv5105540,essv5029114,essv5022840,essv5066386,essv5052418,essv5032528,essv5109619,essv5097467,essv5122283,essv5159908,essv5156194,essv5122391,essv5115916,essv5049402,essv5027318,essv5056134,essv5104625,essv5107686,essv5124691,essv5060740,essv5150140,essv5144855,essv5040775,essv5097310,essv5056440,essv5047038,essv5024687,essv5044793,essv5048674,essv5143672,essv5004676,essv5119553,essv5085784,essv5008733,essv5140518,essv5059632,essv5084237,essv5091671,essv5014941,essv5120825,essv5031209,essv5130268,essv5112773,essv5009235,essv5073271,essv5153808,essv5083436,essv5026623,essv5059820,essv5141808,essv5137612,essv5114914,essv5074099,essv5096053,essv5149294,essv5069878,essv5120210,essv5093323,essv5029214,essv5035156,essv5153795,essv5033300,essv5025386,essv5045795,essv5109563,essv5151691,essv5079295,essv5005087,essv5059571,essv5108477,essv5017982,essv5062203,essv5125756,essv5141054,essv5026309,essv5104838,essv5075275,essv5049775,essv5111517,essv5138460,essv5160231,essv5154545,essv5024018,essv5158092,essv5004978,essv5111476,essv5151785,essv5136176,essv5083961,essv5154002,essv5069726,essv5079815,essv5132676,essv5134114,essv5113626,essv5132126,essv5128027,essv5053887,essv5118918,essv5046367,essv5033913,essv5131206,essv5084169,essv5069925,essv5084872,essv5061837,essv5145366,essv5145322,essv5062839,essv5116877,essv5098352,essv5151521,essv5094345,essv5131187,essv5090132,essv5008445,essv5046823,essv5097734,essv5102933,essv5131617,essv5119089,essv5136451,essv5117770,essv5022899,essv5029956,essv5031776,essv5105527,essv5085664,essv5158473,essv5067539,essv5094859,essv5030802,essv5047401,essv5018319,essv5042447,essv5098970,essv5109304,essv5036538,essv5124563,essv5058554,essv5143675,essv5128726,essv5095167,essv5054735,essv5048011,essv5099578,essv5142794,essv5066962,essv5133293,essv5121665,essv5055269,essv5026850,essv5067739,essv5146146,essv5009043,essv5120017,essv5024308,essv5104161,essv5086103,essv5013771,essv5066236,essv5115701,essv5111879,essv5130160,essv5058165,essv5047141,essv5112056,essv5107569,essv5137966,essv5102940,essv5079242,essv5147461,essv5036334,essv5045039,essv5058349,essv5031761,essv5142821,essv5122284,essv5069106,essv5022814,essv5153909,essv5006765,essv5131729,essv5046257,essv5030097,essv5040381,essv5127318,essv5150490,essv5028943,essv5032492,essv5015431,essv5087509,essv5081445,essv5013134,essv5065529,essv5088193,essv5144857,essv5030870,essv5047573,essv5128661,essv5106668,essv5095678,essv5110920,essv5118413,essv5019910,essv5028006,essv5123808,essv5060567,essv5088778,essv5065062,essv5076719,essv5089671,essv5040604,essv5090714,essv5066979,essv5079049,essv5025321,essv5151066,essv5068698,essv5014943,essv5026807,essv5139502,essv5126830,essv5017367,essv5082177,essv5006873,essv5069577,essv5051225,essv5134088,essv5121484,essv5010501,essv5150521,essv5146716,essv5104016,essv5023372,essv5029166,essv5085540,essv5098576,essv5140528,essv5125226,essv5154303,essv5034931,essv5024738,essv5152426,essv5056846,essv5057285,essv5018589,essv5108687,essv5017551,essv5113078,essv5140692,essv5042924,essv5009741,essv5031780,essv5111284,essv5160673,essv5073224,essv5156557,essv5069456,essv5072310,essv5122400,essv5045136,essv5106121,essv5014237,essv5090722,essv5026464,essv5131577,essv5009469,essv5143568,essv5023892,essv5018774,essv5028233,essv5051600,essv5143826,essv5127227,essv5062305,essv5054811,essv5161085,essv5153089,essv5055591,essv5041151,essv5088355,essv5123149,essv5099511,essv5117189,essv5119020,essv5054225,essv5134875,essv5019919,essv5021984,essv5084345,essv5130606,essv5109145,essv5135347,essv5018808,essv5072391,essv5041215,essv5123211,essv5088799,essv5099008,essv5135199,essv5035275,essv5094253,essv5078710,essv5131804,essv5026832,essv5073819,essv5094100,essv5105169,essv5102741,essv5020491,essv5064115,essv5127192,essv5111193,essv5112739,essv5107268,essv5157080,essv5067375,essv5083703,essv5124140,essv5003917,essv5139239,essv5008825,essv5132718,essv5131437,essv5045823,essv5141879,essv5135208,essv5095378,essv5056528,essv5079894,essv5097328,essv5021239,essv5063506,essv5117840,essv5039855,essv5149578,essv5037390,essv5127121,essv5067190,essv5009908,essv5043383 M 1184 0 532 CFHR1,CFHR3 NA06984,NA06991,NA06993,NA06994,NA06995,NA07029,NA07037,NA07056,NA07435,NA10830,NA10835,NA10837,NA10839,NA10840,NA10843,NA10846,NA10854,NA10859,NA10865,NA11829,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11892,NA11917,NA11919,NA11920,NA11930,NA11993,NA12006,NA12044,NA12057,NA12144,NA12155,NA12156,NA12234,NA12249,NA12272,NA12273,NA12283,NA12287,NA12336,NA12340,NA12342,NA12343,NA12375,NA12386,NA12399,NA12413,NA12739,NA12748,NA12749,NA12753,NA12761,NA12763,NA12813,NA12828,NA12829,NA12865,NA12875,NA12889,NA12890,NA17968,NA17975,NA17979,NA17986,NA17996,NA18112,NA18125,NA18132,NA18153,NA18157,NA18159,NA18485,NA18487,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18537,NA18545,NA18552,NA18555,NA18563,NA18566,NA18596,NA18597,NA18608,NA18614,NA18616,NA18623,NA18628,NA18634,NA18642,NA18643,NA18674,NA18694,NA18748,NA18852,NA18854,NA18857,NA18858,NA18859,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18875,NA18909,NA18910,NA18911,NA18916,NA18923,NA18924,NA18925,NA18930,NA18933,NA18935,NA18942,NA18955,NA18961,NA18978,NA18994,NA18997,NA19007,NA19010,NA19027,NA19028,NA19035,NA19057,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19102,NA19103,NA19107,NA19109,NA19114,NA19115,NA19116,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19152,NA19154,NA19159,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19192,NA19193,NA19194,NA19198,NA19200,NA19202,NA19203,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19239,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19316,NA19319,NA19328,NA19334,NA19346,NA19347,NA19352,NA19360,NA19376,NA19377,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19394,NA19397,NA19398,NA19399,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19436,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19452,NA19457,NA19462,NA19466,NA19468,NA19469,NA19470,NA19473,NA19625,NA19650,NA19652,NA19653,NA19657,NA19659,NA19665,NA19669,NA19676,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19713,NA19714,NA19719,NA19723,NA19755,NA19757,NA19779,NA19781,NA19782,NA19784,NA19789,NA19790,NA19795,NA19796,NA19818,NA19835,NA19836,NA19901,NA19904,NA19908,NA19914,NA19915,NA19917,NA19983,NA19985,NA20126,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20289,NA20290,NA20291,NA20292,NA20295,NA20297,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20341,NA20342,NA20343,NA20344,NA20346,NA20349,NA20356,NA20358,NA20360,NA20504,NA20505,NA20508,NA20509,NA20510,NA20516,NA20518,NA20534,NA20538,NA20540,NA20581,NA20588,NA20589,NA20752,NA20754,NA20755,NA20756,NA20758,NA20765,NA20766,NA20768,NA20769,NA20771,NA20773,NA20778,NA20783,NA20785,NA20786,NA20795,NA20800,NA20802,NA20811,NA20812,NA20816,NA20818,NA20819,NA20828,NA20846,NA20847,NA20850,NA20851,NA20852,NA20853,NA20859,NA20861,NA20866,NA20870,NA20872,NA20873,NA20875,NA20877,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20891,NA20892,NA20895,NA20896,NA20897,NA20900,NA20901,NA20902,NA20903,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21089,NA21090,NA21097,NA21098,NA21100,NA21101,NA21103,NA21106,NA21108,NA21111,NA21112,NA21115,NA21116,NA21118,NA21137,NA21141,NA21144,NA21295,NA21302,NA21303,NA21307,NA21313,NA21316,NA21317,NA21333,NA21336,NA21339,NA21353,NA21355,NA21362,NA21363,NA21364,NA21370,NA21379,NA21381,NA21382,NA21383,NA21391,NA21400,NA21401,NA21402,NA21404,NA21405,NA21417,NA21418,NA21420,NA21423,NA21424,NA21425,NA21438,NA21439,NA21441,NA21442,NA21453,NA21454,NA21475,NA21479,NA21486,NA21489,NA21490,NA21491,NA21494,NA21513,NA21517,NA21519,NA21522,NA21524,NA21528,NA21573,NA21574,NA21575,NA21577,NA21596,NA21600,NA21611,NA21614,NA21615,NA21616,NA21619,NA21631,NA21635,NA21636,NA21647,NA21648,NA21678,NA21689,NA21693,NA21719,NA21733,NA21741,NA21768,NA21776,NA21784,NA21825 esv2630480 1 194992824 195078536 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335214 S 1 0 1 CFHR1,CFHR3 NA18507 esv2652513 1 194996339 195090464 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346390 S 1 0 1 CFHR1,CFHR3 NA18507 dgv8e180 1 194997658 195068695 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1001888,esv1002568 M 3 0 1 CFHR1,CFHR3 HuRef nsv442555 1 194997658 195068695 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CFHR1,CFHR3 dgv169e1 1 194997771 195044340 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13314,essv8031 M 271 0 0 CFHR3 NA18507,NA18871 dgv170e1 1 194997771 195106053 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18545,essv13259,essv12084,essv14667,essv2931,essv14254,essv9542,essv22279,essv12879 M 271 0 0 CFHR1,CFHR3 NA11993,NA12762,NA18502,NA18861,NA19007,NA19099,NA19100,NA19145,NA19201 dgv11e55 1 194997771 195168376 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34299,esv34289,esv34607,esv34652,esv34753,esv34776,esv34943,esv35037,esv35048 M 771 0 9 CFHR1,CFHR3,CFHR4 NA18503,NA18505,NA18526,NA18563,NA18611,NA18956,NA19003,NA19130,NA19131 dgv12e55 1 194997771 195278200 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34978,esv2750822 M 771 2 0 CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,F13B NA11840,SPC_165 essv8557 1 194997771 195332697 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ASPM,CFHR1,CFHR2,CFHR3,CFHR4,CFHR5,F13B NA18503 essv23762 1 194997796 195024837 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CFHR3 NA11994 dgv13e55 1 194999756 195168376 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750825,esv2750824,esv2750823 M 771 3 0 CFHR1,CFHR3,CFHR4 BEC_438,BEC_594,SPC_143 nsv873013 1 195001376 195054367 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519257,nssv1502691,nssv1515956,nssv1501671,nssv1512630,nssv1503626,nssv1515616,nssv1513725,nssv1513062,nssv1514916,nssv1499703 M 6533 1 10 CFHR3 SP50025,SP51056,SP51339,SP52082,SP55567,SP55677,SP55835,SP56096,SP56224,SP56330,SP80992 dgv505n71 1 195001376 195104683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873020,nsv873017 M 6533 0 3 CFHR1,CFHR3 IS34821,IS35299,SP55346 dgv506n71 1 195001376 195183076 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873025,nsv873022,nsv873023,nsv873018 M 6533 4 0 CFHR1,CFHR2,CFHR3,CFHR4 IS35492,IS39420,SP50097,SP52051 nsv437261 1 195002249 195010550 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467142 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18503 nsv437262 1 195002249 195028740 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467143 S 60 0 1 Samples from several populations that are part of the HapMap project. CFHR3 NA18857 nsv514031 1 195005520 195068320 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627947 S 1414 0 1 CFHR1,CFHR3 esv29961 1 195005520 195165287 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84200 S 3 1 0 CFHR1,CFHR3,CFHR4 WATSON esv33169 1 195005549 195089556 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101573,essv98798,essv97607,essv93838,essv100729,essv96759,essv101073,essv98311,essv94806,essv94055,essv96901,essv95648,essv101670,essv95851,essv98944,essv92674,essv93768,essv97259,essv100092,essv93432,essv99733,essv96507,essv99280,essv100574,essv100316,essv99385,essv98346,essv96365 M 51 6 22 CFHR1,CFHR3 21603,21606,21616,21634,21656,21659,21693,21772,21791,21802,21817,21841,21909,21911,21938,21944,21972,22075,22086,22128,22217,22261,22275,22298,22300,22335,22352,22371 nsv471352 1 195010553 195029495 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548050,nssv548051 M 3 CFHR3 nsv482141 1 195010553 195029495 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558502 S 1 1 0 CFHR3 KB1 dgv507n71 1 195022923 195199868 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873021,nsv873029,nsv873030,nsv873024 M 6533 5 17 CFHR1,CFHR2,CFHR3,CFHR4 IS33504,IS35566,IS36559,IS37450,IS37861,IS38055,IS38315,IS39407,IS41840,MS13800,MS21314,MS23109,MS23133,MS24083,SP51297,SP51486,SP55381,SP56787,SP56816,SP57314,SP57329,SP81471 nsv436766 1 195030452 195030968 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465869 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv25n16 1 195044441 195177593 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436813,nsv436805 M 2 1 0 CFHR1,CFHR4 NA18505 nsv159564 1 195045815 195045815 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178142 M 24 "" nsv873026 1 195046511 195089653 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515198 S 6533 1 0 CFHR1 SP56136 nsv873027 1 195046511 195119404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597625 S 6533 0 1 CFHR1 IS41195 dgv508n71 1 195046511 195183076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873031,nsv873041,nsv873039,nsv873036,nsv873028,nsv873035 M 6533 0 12 CFHR1,CFHR2,CFHR4 IS30284,MS19486,MS20857,MS22970,SP50537,SP51040,SP51380,SP52588,SP57250,SP57324,SP58557,SP81432 esv269111 1 195047512 195047687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514313,essv2517349 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12874,NA18970 dgv3n31 1 195048720 195156968 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471415,nsv471404 M 3 CFHR1,CFHR4 nsv498701 1 195049336 195171294 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585416 S 9 0 1 CFHR1,CFHR4 nsv437324 1 195054367 195062863 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467205 S 60 0 1 Samples from several populations that are part of the HapMap project. CFHR1 NA10851 nsv471353 1 195055484 195067939 CNV Complex Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548054,nssv548053,nssv548052 M 3 CFHR1 nsv482142 1 195055484 195067939 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558503 S 1 1 0 CFHR1 KB1 nsv438126 1 195059091 195059832 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469663,nssv469607,nssv469618,nssv469763,nssv469652,nssv469696,nssv469685,nssv469752,nssv469774,nssv469596,nssv469630,nssv469674,nssv469707,nssv469718,nssv469729,nssv469585,nssv469641,nssv469741 M 269 0 18 Samples from several populations that are part of the HapMap project. CFHR1 NA18500,NA18502,NA18503,NA18505,NA18521,NA18523,NA18852,NA18854,NA18862,NA18863,NA19102,NA19103,NA19140,NA19142,NA19152,NA19154,NA19159,NA19161 nsv437335 1 195059832 195069130 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467216 S 60 0 1 Samples from several populations that are part of the HapMap project. CFHR1 NA12753 esv5113 1 195060951 195185070 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27554 S 1 0 1 Single Asian sample YH CFHR1,CFHR2,CFHR4 YH nsv469599 1 195063099 195221853 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649715 M 265 0 20 Samples from several populations that are part of the HapMap project. CFHR1,CFHR2,CFHR4,CFHR5 dgv171e1 1 195063100 195228425 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10137,essv14976,essv2513,essv17257 M 271 0 0 CFHR1,CFHR2,CFHR4,CFHR5 NA18503,NA18870,NA19003,NA19130 dgv509n71 1 195066260 195168376 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873033,nsv873045,nsv873058,nsv873040,nsv873034,nsv873061 M 6533 6 0 CFHR1,CFHR4 IS40657,SP50178,SP54367,SP55970,SP56100,SP56975 dgv510n71 1 195066260 195171073 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873057,nsv873056,nsv873053,nsv873059,nsv873032,nsv873044,nsv873046,nsv873052,nsv873047 M 6533 0 19 CFHR1,CFHR4 IS33529,IS38011,IS41433,MS10720,MS16286,MS17231,MS21891,SP50798,SP50900,SP52055,SP52399,SP54720,SP54790,SP55265,SP55624,SP56271,SP56348,SP57147,SP81074 dgv511n71 1 195066260 195183076 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873037,nsv873054,nsv873042,nsv873048,nsv873050 M 6533 6 12 CFHR1,CFHR2,CFHR4 IS38152,MS12265,SP50058,SP50629,SP50896,SP50942,SP51260,SP52060,SP52531,SP52761,SP53317,SP54384,SP54456,SP54875,SP55717,SP55791,SP57860,SP58561 dgv512n71 1 195066260 195199868 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873049,nsv873038,nsv873055 M 6533 14 86 CFHR1,CFHR2,CFHR4 IS30138,IS30934,IS31302,IS31722,IS32686,IS33240,IS33616,IS33747,IS34429,IS34582,IS35011,IS35545,IS35742,IS36179,IS37248,IS37639,IS37909,IS38371,IS38384,IS38474,IS38538,IS39042,IS39335,IS39625,IS39676,IS40224,IS40373,IS40831,IS41043,IS41848,MS10115,MS10567,MS10721,MS10728,MS11537,MS11558,MS12138,MS12972,MS13423,MS13498,MS14416,MS14755,MS14764,MS16213,MS16917,MS17400,MS19093,MS19766,MS20020,MS20200,MS22093,MS23174,MS23958,MS24015,MS24101,MS24461,MS24762,MS25280,MS25304,MS25553,MS25617,MS25782,SP50604,SP50775,SP51387,SP52313,SP52648,SP52913,SP53196,SP53250,SP53259,SP53260,SP53725,SP53803,SP54099,SP54812,SP55022,SP55093,SP55269,SP55304,SP56400,SP56533,SP56542,SP57005,SP57165,SP57875,SP58355,SP80943,SP80969,SP80980,SP81040,SP81090,SP81106,SP81197,SP81260,SP81333,SP81363,SP81461,SP81467,SP81553 dgv513n71 1 195077621 195148967 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873043,nsv873051 M 6533 6 9 CFHR4 IS31096,IS31142,IS34304,IS35072,IS38484,MS10745,MS13813,MS17539,MS18873,MS19652,MS24995,SP51146,SP51219,SP54936,SP56631 esv2421550 1 195087200 195168376 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5139763,essv5112437,essv5070649,essv5101852,essv5012300,essv5021513,essv5151218,essv5121031,essv5140047,essv5079056,essv5103147,essv5076533,essv5016553,essv5131800,essv5022129,essv5104759,essv5031936,essv5129728,essv5080009,essv5043455,essv5153192,essv5004947,essv5019383,essv5154797,essv5136955,essv5034344,essv5128782,essv5107632,essv5114871,essv5063849,essv5044896,essv5032833,essv5159074,essv5141110,essv5048469,essv5030819,essv5146518,essv5069719,essv5041413,essv5089723 M 1184 0 40 CFHR4 NA17965,NA17995,NA18124,NA18489,NA18503,NA18505,NA18526,NA18563,NA18597,NA18611,NA18634,NA18642,NA18745,NA18870,NA18872,NA18956,NA19038,NA19068,NA19130,NA19131,NA19149,NA19151,NA19213,NA19215,NA19256,NA19308,NA19428,NA19446,NA19456,NA19663,NA19665,NA19704,NA20340,NA20582,NA20876,NA20888,NA21094,NA21099,NA21123,NA21297 nsv873060 1 195087200 195183076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517022,nssv1516586,nssv1502501 M 6533 0 3 CFHR2,CFHR4 SP51226,SP56874,SP57045 nsv826019 1 195089327 195158326 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433460 S 31 0 1 CFHR4 NA18526 nsv470773 1 195089652 195163711 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544404,nssv544403,nssv544405,nssv544406 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CFHR4 HGDP00457,HGDP00477,HGDP01217,HGDP01228 nsv470770 1 195089652 195186771 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544402,nssv544396,nssv544393,nssv544398,nssv544397,nssv544401,nssv544395,nssv544392,nssv544400,nssv544394 M 443 0 10 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CFHR2,CFHR4 HGDP00451,HGDP00452,HGDP00455,HGDP00479,HGDP00928,HGDP01033,HGDP01081,HGDP01091,HGDP01094,HGDP01418 nsv467372 1 195089653 195092486 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542686 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01238 nsv467383 1 195089653 195133856 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542693 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CFHR4 HGDP00928 dgv56n27 1 195089653 195163711 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467439,nsv467461,nsv467494,nsv467517,nsv467428,nsv467661,nsv467605,nsv467483,nsv467472,nsv467450,nsv467406 M 1557 11 0 CFHR4 HGDP00288,HGDP00392,HGDP00898,HGDP00977,HGDP01217,HGDP01228,HGDP01236,HGDP01242,HGDP01247,HGDP01349,NINDS_159 nsv818755 1 195089653 195163711 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417741 S 112 0 1 CFHR4 NA19003 dgv57n27 1 195089653 195186771 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467761,nsv467583,nsv467639,nsv467794,nsv467572,nsv467705,nsv467550,nsv467883,nsv467827,nsv467694,nsv467650,nsv467805,nsv467683,nsv467672,nsv467539,nsv467716,nsv467561,nsv467783,nsv467739,nsv467628,nsv467617,nsv467872,nsv467728,nsv467395,nsv467594,nsv467417,nsv467816,nsv467528,nsv467506,nsv467750 M 1557 0 30 CFHR2,CFHR4 1780854017_A,1780854391_A,1780854449_A,1780854535_A,1780862085_A,1780862379_A,1782681099_A,1782681176_A,1798860292_A,HGDP00218,HGDP00455,HGDP00479,HGDP00624,HGDP00741,HGDP00755,HGDP00756,HGDP00894,HGDP00952,HGDP00961,HGDP01033,HGDP01081,HGDP01094,HGDP01311,HGDP01367,NINDS_167,NINDS_173,NINDS_186,NINDS_245,NINDS_259,NINDS_92 dgv58n27 1 195089653 195199868 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467772,nsv467839,nsv467850 M 1557 3 0 CFHR2,CFHR4 HGDP00457,HGDP01041,NINDS_235 nsv442558 1 195089940 195168372 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CFHR4 esv34855 1 195089966 195153393 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988279,essv6979964,essv6979965 M 771 0 1 CFHR4 NA18870 essv14815 1 195090236 195153393 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CFHR4 NA18870 essv21109 1 195090236 195182982 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CFHR2,CFHR4 NA10854 nsv514032 1 195091760 195162688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627959 S 1414 0 1 CFHR4 nsv467861 1 195092251 195104683 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543002 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01418 nsv873062 1 195092486 195199868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558259 S 6533 1 0 CFHR2,CFHR4 MS23184 nsv467905 1 195119404 195160949 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543042 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CFHR4 HGDP00951 esv1620517 1 195121251 195121251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300650 S 2 1 0 "" HuRef nsv471354 1 195123835 195154385 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548057,nssv548055 M 3 CFHR4 nsv826031 1 195158326 195165428 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429600 S 31 1 0 "" AK14 nsv826042 1 195158326 195185574 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426431 S 31 1 0 CFHR2 AK6 nsv524689 1 195208116 195213398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700661 S 2026 0 1 CFHR5 nsv8702 1 195210475 195221198 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23703 S 31 0 1 Samples from several populations that are part of the HapMap project. CFHR5 NA19132 essv19099 1 195244422 195436395 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ASPM,CFHR5,F13B,ZBTB41 NA07055 nsv873063 1 195274102 195292054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505541 S 6533 0 1 F13B SP53687 nsv873064 1 195275220 195302161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503535 S 6533 1 0 F13B SP52077 esv1543078 1 195278494 195278494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112289 S 2 1 0 F13B HuRef dgv514n71 1 195294372 195342817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873067,nsv873065 M 6533 0 2 ASPM,F13B SP52093,SP57379 nsv873066 1 195295257 195301449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499963 S 6533 0 1 F13B SP50144 esv7629 1 195296668 195296778 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30070 S 1 1 0 F13B SJK nsv873068 1 195313405 195342817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513175,nssv1513325 M 6533 0 2 ASPM SP55694,SP55747 nsv873069 1 195322548 195375665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517868 S 6533 0 1 ASPM SP57401 nsv873070 1 195346294 195431637 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569634,nssv1549556,nssv1535544,nssv1570127 M 6533 1 3 ASPM,ZBTB41 IS31652,IS31812,MS12266,MS18267 dgv515n71 1 195346294 195487871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873072,nsv873073,nsv873071 M 6533 0 4 ASPM,ZBTB41 IS31373,IS32615,IS40067,MS23531 nsv826053 1 195381792 195382339 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431859 S 31 0 1 ASPM AK20 esv2445525 1 195433805 195435207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377618 S 1 0 1 ZBTB41 NA18507 nsv521647 1 195731071 195795841 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698265 S 2026 1 0 DENND1B nsv873074 1 195731071 195964726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566978 S 6533 0 1 DENND1B IS31041 nsv873075 1 195731071 195981474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530296 S 6533 1 0 DENND1B MS10296 nsv4010 1 195738086 195778020 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2654 S 9 0 1 DENND1B NA18555 esv992847 1 195766412 195770880 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564989 S 3 0 1 DENND1B HuRef esv2558030 1 195766467 195770740 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222752 S 1 0 1 DENND1B NA18507 esv2053199 1 195766952 195770081 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543669 S 1 0 1 DENND1B NA18507 nsv511726 1 195767029 195770248 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626370 S 1 0 1 DENND1B 1 esv4662 1 195767107 195769966 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27103 S 1 0 1 Single Asian sample YH DENND1B YH nsv498702 1 195767131 195769907 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585417 S 9 0 1 DENND1B esv987539 1 195767138 195769900 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566642 S 3 0 1 DENND1B HuRef esv1218085 1 195767143 195769906 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914047 S 2 0 1 DENND1B HuRef esv7266 1 195767144 195769893 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29707 S 1 0 1 DENND1B SJK esv1029151 1 195780689 195780689 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694412 S 2 1 0 DENND1B HuRef nsv873076 1 195795841 195956590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578661 S 6533 0 1 DENND1B IS34856 nsv437263 1 195865653 195988863 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467144 S 60 0 1 Samples from several populations that are part of the HapMap project. DENND1B NA19221 nsv873077 1 195882014 195964726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537915,nssv1558965 M 6533 0 2 DENND1B MS13426,MS23670 esv1439856 1 195949658 195949658 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981835 S 2 1 0 DENND1B HuRef nsv522400 1 195993921 195999678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695180 S 2026 0 1 DENND1B esv1007074 1 196014660 196035436 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563607 S 3 0 0 "" HuRef esv3300 1 196023411 196024627 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25741 S 1 0 0 Single Asian sample YH "" YH esv1093552 1 196023846 196024607 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657971 S 2 0 0 "" HuRef nsv506971 1 196154392 196160392 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619257,nssv617545 M 4 2 0 LHX9 CHM,NA10860 esv2520814 1 196160244 196161710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184269 S 1 0 1 LHX9 NA18507 esv1002483 1 196160273 196161167 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565223 S 3 0 1 LHX9 HuRef esv2143475 1 196160464 196161105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654974 S 1 0 1 LHX9 NA18507 esv3513 1 196160583 196161019 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25954 S 1 0 1 Single Asian sample YH LHX9 YH esv8658 1 196160640 196160936 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31099 S 1 0 1 LHX9 SJK nsv873078 1 196230774 196244577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572594 S 6533 0 1 "" IS33150 esv269624 1 196385351 196389218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504012 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv832248 1 196414499 196594390 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441609,nssv1441608 M 95 1 1 NEK7 esv269429 1 196479640 196479936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507208,essv2510864 M 157 2 0 Samples from several populations that are part of the HapMap project. NEK7 NA18870,NA19116 esv268584 1 196509897 196510202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576118,essv2522900,essv2568096,essv2553961,essv2558282,essv2553850,essv2561890,essv2537318,essv2546956,essv2540191,essv2520974,essv2556884,essv2552331,essv2551895,essv2562794,essv2569514,essv2578689,essv2550165,essv2536900,essv2538940,essv2569689,essv2523684,essv2564794,essv2531128,essv2532545,essv2569874,essv2559014,essv2551118,essv2568990,essv2534012,essv2543137,essv2577124,essv2525759,essv2529593,essv2538468,essv2560749,essv2524157,essv2574973,essv2568752,essv2545093,essv2548098,essv2546130,essv2548997,essv2532986,essv2547746 M 157 45 0 Samples from several populations that are part of the HapMap project. NEK7 NA07037,NA07051,NA07347,NA11830,NA11931,NA11995,NA12287,NA12750,NA12763,NA12874,NA12878,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18537,NA18558,NA18573,NA18576,NA18593,NA18638,NA18858,NA18861,NA18916,NA18965,NA18970,NA18980,NA19093,NA19108,NA19116,NA19129,NA19138,NA19147,NA19172,NA19210,NA19239 esv273344 1 196509899 196510204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581663,essv2583062,essv2584721 M 7 3 0 Samples from several populations that are part of the HapMap project. NEK7 NA12878,NA12892,NA19239 esv2564043 1 196535106 196536712 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248183 S 1 0 1 NEK7 NA18507 nsv4021 1 196569006 196582349 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10427 S 9 0 1 "" NA18956 esv8371 1 196571273 196576901 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30812 S 1 0 1 "" SJK nsv160045 1 196571404 196571404 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178623 M 24 "" esv26607 1 196571757 196577159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12650 S 451 0 4 "" NA12414,NA18907,NA18916,NA19257 dgv93n67 1 196571808 196576816 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826086,nsv826097,nsv826075,nsv826064 M 31 0 15 "" AK10,AK12,AK16,AK18,AK20,AK8,NA18537,NA18547,NA18582,NA18947,NA18951,NA18969,NA18972,NA18997,NA18999 nsv514033 1 196572000 196576752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627970 S 1414 0 1 "" nsv873079 1 196585386 196683627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530297 S 6533 1 0 "" MS10296 esv2611839 1 196632853 196633573 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179731 S 1 1 0 "" NA18507 nsv512754 1 196634054 196634277 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625383 S 1 1 0 "" 1 nsv832259 1 196656854 196796820 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441610,nssv1441611 M 95 2 0 ATP6V1G3 nsv4032 1 196683535 196718597 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv425 S 9 1 0 "" NA19240 nsv470774 1 196687281 196755113 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544407 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00472 nsv509579 1 196728089 196728089 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621108 S 4 1 0 "" NA15510 esv2252929 1 196728209 196728678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515942 S 1 0 1 "" NA18507 esv4854 1 196728376 196728659 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27295 S 1 0 1 Single Asian sample YH "" YH esv272690 1 196735944 196736277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581928,essv2582678,essv2583267 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1001848 1 196737734 196750280 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564495 S 3 1 0 "" HuRef nsv4043 1 196738880 196765231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9656,nssv2664,nssv10430,nssv3628,nssv9386,nssv11145 M 9 6 0 ATP6V1G3 NA12878,NA15510,NA18507,NA18517,NA18555,NA18956 nsv113 1 196739236 196754612 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv113 S 1 1 0 "" NA15510 nsv509591 1 196740608 196753867 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623807 S 4 1 0 "" NA18994 esv1247001 1 196742448 196742448 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077926 S 2 1 0 "" HuRef nsv159683 1 196797725 196797725 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178261 M 24 "" nsv528451 1 196831120 196843886 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705050 S 2026 0 1 "" nsv873080 1 196886309 196958987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530298 S 6533 1 0 PTPRC MS10296 nsv819406 1 196969857 196970056 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419115 S 2 0 1 PTPRC AK1 nsv873081 1 197000471 197279101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570528 S 6533 0 1 LOC100131234,MIR181A1,MIR181B1 IS32166 nsv521385 1 197018024 197023984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697995 S 2026 0 1 "" nsv873082 1 197027177 197179420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594161 S 6533 0 1 LOC100131234,MIR181A1,MIR181B1 IS39718 dgv94n67 1 197040280 197041994 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826108,nsv826119,nsv826130 M 31 0 23 "" AK10,AK12,AK14,AK16,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18999 dgv9e180 1 197040280 197041994 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006640,esv1007676 M 3 1 0 "" HuRef nsv820979 1 197040280 197041994 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420835 S 1 0 1 "" NA10851 nsv819909 1 197040309 197041904 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419289 S 2 1 0 "" AK1 esv4416 1 197040336 197042136 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26857 S 1 0 1 Single Asian sample YH "" YH esv6634 1 197040368 197042032 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29075 S 1 0 1 "" SJK esv22288 1 197040425 197041994 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14843 S 451 23 0 "" NA07045,NA11931,NA11993,NA11995,NA12239,NA12489,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19129,NA19190,NA19225,NA19240,NA19257 esv275283 1 197074854 197079695 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585110 S 1250 0 1 LOC100131234 nsv508686 1 197127631 197136267 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622784 S 4 0 1 LOC100131234 NA18994 esv22629 1 197152743 197153540 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19206 S 451 0 2 LOC100131234 NA18916,NA19108 nsv873083 1 197210463 197320763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564845 S 6533 0 1 "" IS30311 nsv441732 1 197215222 197223208 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv873084 1 197247864 197369233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582310,nssv1574242 M 6533 0 2 "" IS33533,IS35911 nsv873085 1 197286478 197369233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584972,nssv1591633 M 6533 0 2 "" IS37226,IS39011 nsv470775 1 197295301 197365481 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544409,nssv544408 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00591,HGDP01060 nsv467927 1 197300385 197353718 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543063 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00623 dgv516n71 1 197309600 197373351 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873086,nsv873088,nsv873087 M 6533 0 4 "" IS31373,IS37996,MS10802,SP50101 nsv467938 1 197346764 197363900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543074 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01213 nsv437264 1 197353718 197382215 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467145 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv521674 1 197356853 197357762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698292 S 2026 0 1 "" nsv526650 1 197356853 197358322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702976 S 2026 0 1 "" esv2450096 1 197375870 197380996 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378670 S 1 0 1 "" NA18507 esv24372 1 197376789 197380534 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19204 S 451 0 16 "" NA12004,NA12776,NA12828,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 nsv442564 1 197378049 197380463 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2510985 1 197378849 197380849 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302006 S 1 0 1 "" NA18507 nsv514034 1 197379248 197380432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627981 S 1414 0 1 "" dgv5n68 1 197420265 197673503 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832270,nsv832281 M 95 2 0 "" nsv525766 1 197458099 197460512 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701934 S 2026 0 1 "" esv8490 1 197509878 197509989 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30931 S 1 1 0 "" SJK nsv873089 1 197521729 197693944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530299 S 6533 1 0 "" MS10296 nsv524123 1 197614846 197624135 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700001 S 2026 0 1 "" nsv826143 1 197703209 197703704 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434215 S 31 1 0 "" NA18570 esv2528855 1 197704675 197707529 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341789 S 1 0 1 "" NA18507 esv2318680 1 197705158 197707066 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4861233 S 1 0 1 "" NA18507 esv4930 1 197705327 197706985 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27371 S 1 0 1 Single Asian sample YH "" YH nsv511727 1 197705327 197707592 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626371 S 1 0 1 "" 1 esv8820 1 197705361 197706856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31261 S 1 0 1 "" SJK esv2399413 1 197714090 197714548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693622 S 1 0 1 "" NA18507 nsv467950 1 197738239 197850660 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543086 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01368 nsv873090 1 197762985 197860465 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530300 S 6533 1 0 "" MS10296 nsv520149 1 197808393 197812030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661215,nssv682148 M 2026 0 2 "" nsv873091 1 197817783 197876860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583355 S 6533 0 1 "" IS36440 esv24849 1 197829410 197833274 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14911,esv11825 M 451 23 0 "" NA11993,NA12004,NA12156,NA12239,NA12414,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv999591 1 197829666 197833411 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564945 S 3 0 1 "" HuRef nsv820449 1 197830355 197833385 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420847 S 1 0 1 "" NA10851 esv33996 1 197896906 197897283 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93482,essv99243 M 51 2 0 "" 22128,22275 nsv832292 1 197907805 198068898 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441614 S 95 1 0 "" esv33225 1 198032894 198032955 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93982 S 51 0 1 "" 21802 nsv873092 1 198038857 198192807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552241 S 6533 0 1 "" MS19303 nsv873093 1 198038857 198566922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584708 S 6533 1 0 FAM58BP,NR5A2 IS37156 nsv832303 1 198040470 198202979 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441615 S 95 0 1 "" nsv520569 1 198130178 198130783 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672672,nssv691689,nssv702515 M 2026 1 2 "" nsv161112 1 198310168 198310487 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179690 M 24 NR5A2 nsv437265 1 198356842 198375169 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467146 S 60 0 1 Samples from several populations that are part of the HapMap project. NR5A2 NA19221 esv268970 1 198360904 198360989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516144 S 157 1 0 Samples from several populations that are part of the HapMap project. NR5A2 NA12873 nsv506972 1 198377619 198383619 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623289,nssv617546,nssv620675,nssv619258 M 4 4 0 NR5A2 CHM,NA10860,NA15510,NA18994 esv25770 1 198522137 198526232 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12486 S 451 2 0 "" NA18511,NA18523 esv25840 1 198529688 198530520 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15940 S 451 1 0 "" NA12878 dgv23n21 1 198566922 198598828 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520089,nsv527560 M 2026 2 0 C1orf98 nsv518035 1 198590786 198631496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695445 S 2026 0 1 C1orf98 nsv873094 1 198765051 198838584 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530301 S 6533 1 0 KIF14 MS10296 dgv172e1 1 198774133 198863600 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25107,esv1000 M 271 0 0 KIF14 NA12814 nsv873095 1 198811810 199073869 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533903 S 6533 1 0 CAMSAP2,DDX59,KIF14 MS11331 dgv95n67 1 198859987 198860482 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826165,nsv826154 M 31 0 2 "" AK10,NA18542 nsv160731 1 198924789 198934596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179309 M 24 "" nsv873096 1 198949344 199046776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599345 S 6533 1 0 CAMSAP2 IS41603 nsv826176 1 198999640 199002930 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435689 S 31 1 0 CAMSAP2 NA18566 nsv528910 1 199029665 199093392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705595 S 2026 0 1 CAMSAP2 esv1463839 1 199052538 199052644 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857846 S 2 0 1 CAMSAP2 HuRef nsv518356 1 199058577 199078388 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695783 S 2026 0 1 CAMSAP2 nsv873097 1 199070280 199096615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504571,nssv1500037 M 6533 0 2 CAMSAP2 SP50649,SP52604 nsv873098 1 199078388 199115983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568070 S 6533 1 0 CAMSAP2,GPR25 IS31194 esv33174 1 199093796 199262355 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97928 S 51 0 1 C1orf106,CAMSAP2,GPR25,KIF21B 21837 nsv873099 1 199103489 199158760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530437 S 6533 0 1 C1orf106,GPR25 MS10311 nsv506973 1 199109010 199115010 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623290 S 4 1 0 GPR25 NA18994 esv989611 1 199240972 199253332 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563779 S 3 0 1 KIF21B HuRef nsv4054 1 199261133 199287544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv434 S 9 1 0 CACNA1S NA19240 esv2252164 1 199267602 199268006 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935860 S 1 0 1 "" NA18507 esv1000350 1 199276066 199279810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565362 S 3 0 1 CACNA1S HuRef nsv428301 1 199294967 199427097 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452864 S 62 1 0 CACNA1S,IGFN1,TMEM9 NA18916 nsv515571 1 199345711 199348566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685282,nssv663935 M 2026 0 2 CACNA1S nsv873100 1 199400578 199423769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513251 S 6533 0 1 "" SP55699 esv25305 1 199444497 199447839 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17846,esv16711 M 451 3 0 IGFN1 NA06985,NA12776,NA19108 esv1570400 1 199445567 199445783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034974 S 2 0 1 IGFN1 HuRef esv1754216 1 199446767 199446767 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039827 S 2 1 0 IGFN1 HuRef nsv518716 1 199450025 199450396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696167 S 2026 0 1 IGFN1 nsv515827 1 199479459 199483771 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664909,nssv675865,nssv673889,nssv662306,nssv692309,nssv654896 M 2026 2 4 "" nsv520734 1 199484965 199500374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697581 S 2026 0 1 "" esv26568 1 199485448 199489034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18977,esv13511 M 451 0 2 "" NA12878,NA18916 nsv520413 1 199488425 199489541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671283,nssv682834 M 2026 0 2 "" esv22920 1 199490904 199494499 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17602 S 451 1 1 "" NA18909,NA19108 nsv820582 1 199490904 199494499 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420858 S 1 1 0 "" NA10851 esv2168306 1 199493085 199493430 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548024 S 1 0 1 "" NA18507 esv1105311 1 199493829 199494023 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665228 S 2 0 1 "" HuRef nsv873101 1 199529100 199577059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538571 S 6533 0 1 PKP1 MS13770 esv992760 1 199551886 199551886 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585841 S 3 1 0 PKP1 HuRef esv1197580 1 199551887 199551887 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049853 S 2 1 0 PKP1 HuRef nsv467961 1 199552335 199770355 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543097 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSRP1,LAD1,PHLDA3,PKP1,RPS10P7,TNNI1,TNNT2 HGDP00456 nsv470776 1 199555578 199770355 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544411 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSRP1,LAD1,PHLDA3,PKP1,RPS10P7,TNNI1,TNNT2 HGDP00456 nsv832315 1 199600214 199761739 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441616 S 95 0 1 CSRP1,LAD1,PHLDA3,RPS10P7,TNNI1,TNNT2 nsv832326 1 199611471 199711638 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441617,nssv1441619 M 95 0 2 LAD1,PHLDA3,TNNI1,TNNT2 nsv508687 1 199616601 199693275 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622785 S 4 0 1 LAD1,TNNI1 NA18994 nsv4065 1 199650307 199684822 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3637 S 9 1 0 TNNI1 NA12878 nsv522795 1 199654771 199655922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698439 S 2026 0 1 TNNI1 nsv520939 1 199769978 199770355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694408 S 2026 0 1 "" nsv4077 1 199774631 199807482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4886 S 9 1 0 "" NA19129 esv33114 1 199784793 199835239 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99789 S 51 1 0 "" 22086 nsv527756 1 199828298 199831532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704243 S 2026 0 1 "" nsv818766 1 199903347 199934485 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417518 S 112 0 1 NAV1 NA18968 nsv826187 1 199961611 199965051 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439500 S 31 0 1 NAV1 NA18537 esv1632559 1 200051763 200051865 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856469 S 2 0 0 NAV1 HuRef nsv159766 1 200092281 200092281 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178344 M 24 IPO9 nsv521567 1 200127249 200155592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698184 S 2026 0 1 LMOD1,SHISA4 nsv4088 1 200153719 200164833 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2739 S 9 1 0 LMOD1 NA18555 nsv159297 1 200182977 200188892 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177875 M 24 "" nsv161136 1 200200378 200203268 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179714 M 24 TIMM17A nsv873102 1 200241065 200291913 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530302 S 6533 1 0 ELF3,RNPEP MS10296 nsv516812 1 200244450 200253041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697276,nssv671101,nssv662957 M 2026 0 3 ELF3 esv2045337 1 200268149 200268568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698609 S 1 0 1 "" NA18507 nsv873103 1 200386357 200420206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521262 S 6533 0 1 PTPN7,PTPRVP SP52320 nsv522841 1 200386357 200547629 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698493 S 2026 1 0 LGR6,PTPN7,PTPRVP nsv467972 1 200395735 200420206 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543108 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPN7,PTPRVP HGDP00136 esv1167532 1 200439983 200439983 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298034 S 2 1 0 LGR6 HuRef esv1458469 1 200440025 200440025 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362931 S 2 1 0 LGR6 HuRef esv1038842 1 200440044 200440044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706967 S 2 1 0 LGR6 HuRef esv1257220 1 200440960 200441166 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203806 S 2 0 1 LGR6 HuRef dgv517n71 1 200598133 200797989 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873105,nsv873104 M 6533 2 0 PPP1R12B MS12188,MS14835 esv29503 1 200604099 200667848 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14824 S 451 0 21 PPP1R12B NA06985,NA07045,NA11993,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA18508,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225 dgv96n67 1 200604233 200668775 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826198,nsv826209,nsv826220,nsv826231 M 31 0 4 PPP1R12B NA18526,NA18552,NA18973,NA18999 nsv433192 1 200604878 200652543 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463073 S 9 0 1 Samples from several populations that are part of the HapMap project. PPP1R12B NA19129 esv1009152 1 200614197 200796856 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586473 S 3 1 0 PPP1R12B HuRef esv2027802 1 200627277 200627961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611730 S 1 0 1 PPP1R12B NA18507 nsv159751 1 200627666 200627905 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178329 M 24 PPP1R12B nsv514037 1 200656528 200668624 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627992 S 1414 1 0 PPP1R12B dgv97n67 1 200681239 200797506 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826242,nsv826309,nsv826298,nsv826353,nsv826331,nsv826342,nsv826320,nsv826254,nsv826387,nsv826376,nsv826276,nsv826287,nsv826365,nsv826265 M 31 0 21 PPP1R12B AK12,AK14,AK16,AK18,AK2,AK4,AK6,NA18526,NA18537,NA18552,NA18564,NA18566,NA18582,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 esv24486 1 200681547 200797011 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18626 S 451 0 39 PPP1R12B NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514038 1 200681632 200763088 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628003 S 1414 1 0 PPP1R12B nsv873106 1 200684186 200780715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586350 S 6533 0 1 PPP1R12B IS37752 esv2379385 1 200693858 200694375 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685497 S 1 0 1 PPP1R12B NA18507 esv8498 1 200693936 200694259 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30939 S 1 0 1 PPP1R12B SJK esv1006468 1 200693941 200694228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581402 S 3 0 1 PPP1R12B HuRef nsv471538 1 200698967 200795502 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547946,nssv547948,nssv547947 M 3 PPP1R12B nsv873107 1 200705911 200797989 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549417,nssv1544446 M 6533 2 0 PPP1R12B MS16345,MS18217 nsv516501 1 200736346 200813724 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668714,nssv677317,nssv680690,nssv705448 M 2026 4 0 PPP1R12B nsv832337 1 200763310 200945571 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441624,nssv1441621,nssv1441627,nssv1441626,nssv1441623,nssv1441622,nssv1441625,nssv1441620 M 95 0 8 PPP1R12B,SYT2 dgv173e1 1 200834012 200990829 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv86,essv11715 M 271 0 0 KDM5B,SYT2 NA19154 esv3721 1 200860541 200860844 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26162 S 1 0 0 Single Asian sample YH SYT2 YH nsv4099 1 200875043 200903253 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7953 S 9 1 0 SYT2 NA12156 nsv832348 1 200877039 201048785 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441628 S 95 0 1 KDM5B,SYT2 esv2545821 1 200907943 200908920 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207001 S 1 1 0 SYT2 NA18507 nsv7186 1 200910134 200935187 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6062 S 9 0 0 SYT2 NA12156 nsv832359 1 200975039 201154617 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441631 S 95 0 1 KDM5B,KLHL12,LOC148709,LOC641515,RABIF esv1740431 1 201004789 201005113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309008 S 2 0 1 KDM5B HuRef nsv4110 1 201023263 201056309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7966 S 9 1 0 KDM5B NA12156 esv2490406 1 201024930 201025538 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224693 S 1 1 0 KDM5B NA18507 nsv521757 1 201047153 201047787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694524 S 2026 0 1 "" nsv873108 1 201127362 201171151 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530303 S 6533 1 0 KLHL12 MS10296 nsv4121 1 201202459 201240696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7971 S 9 0 1 CYB5R1,LOC401980 NA12156 nsv832370 1 201232942 201431856 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441632 S 95 0 1 ADORA1,CHI3L1,LOC401980,MYBPH,MYOG,PPFIA4,TMEM183A,TMEM183B nsv4132 1 201247386 201275491 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3648 S 9 1 0 TMEM183A,TMEM183B NA12878 nsv467983 1 201272721 201314244 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543119 S 1557 0 1 PPFIA4 NINDS_200 nsv522340 1 201286273 201291390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694157 S 2026 0 1 PPFIA4 esv22303 1 201288144 201288625 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14072 S 451 1 0 PPFIA4 NA12156 nsv519378 1 201289745 201291390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696822 S 2026 0 1 PPFIA4 nsv4143 1 201291789 201299154 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7975 S 9 0 1 PPFIA4 NA12156 nsv821421 1 201330618 201332138 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420869 S 1 0 1 "" NA10851 esv25652 1 201330729 201331890 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18022 S 451 29 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv521682 1 201349434 201350631 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698302 S 2026 0 1 "" nsv873109 1 201373013 201388699 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535739 S 6533 1 0 ADORA1 MS12439 nsv873110 1 201411924 201460809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553930 S 6533 0 1 CHI3L1,CHIT1 MS20440 nsv523111 1 201432004 201435504 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698809 S 2026 0 1 "" esv26033 1 201432090 201433290 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14494 S 451 0 2 "" NA19114,NA19257 esv33921 1 201432797 201433208 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95025 S 51 0 1 "" 22231 nsv527064 1 201476104 201506927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703443 S 2026 0 1 "" esv1372584 1 201608968 201609023 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069426 S 2 0 1 "" HuRef esv1567874 1 201735825 201735825 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718505 S 2 1 0 OPTC HuRef esv2452765 1 201764766 201765740 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257961 S 1 1 0 "" NA18507 esv995454 1 201790516 201792185 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564251 S 3 1 0 "" HuRef nsv467994 1 201947115 202001608 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543130 S 1557 0 1 ATP2B4,LAX1,SNORA77 1780862401_A esv26128 1 201951054 201952979 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11858,esv13829 M 451 21 0 ATP2B4 NA11931,NA11995,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18511,NA18523,NA18861,NA18916,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820549 1 201951054 201952979 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420880 S 1 0 1 ATP2B4 NA10851 nsv873111 1 202014395 202067049 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530304 S 6533 1 0 ZBED6,ZC3H11A MS10296 esv2512221 1 202030492 202030803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332360 S 1 0 1 "" NA18507 nsv520482 1 202034951 202067049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677636,nssv676246,nssv692396,nssv671804,nssv679660 M 2026 0 5 ZBED6,ZC3H11A nsv522989 1 202036514 202091411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698659 S 2026 0 1 ZC3H11A esv1633923 1 202075773 202075773 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994319 S 2 1 0 ZC3H11A HuRef esv2616780 1 202153721 202156912 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287074 S 1 0 1 "" NA18507 esv2367235 1 202154139 202156650 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560650 S 1 0 1 "" NA18507 nsv525331 1 202179061 202184808 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701442 S 2026 0 1 "" nsv441733 1 202204481 202212021 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1340488 1 202209746 202209746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066433 S 2 1 0 "" HuRef nsv520522 1 202364482 202366006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697467 S 2026 0 1 "" nsv826398 1 202385404 202388893 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432496 S 31 1 0 ETNK2 NA18972 esv2627051 1 202430424 202431239 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385199 S 1 1 0 KISS1 NA18507 nsv528249 1 202431314 202432666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704815 S 2026 0 1 KISS1 esv2477162 1 202440192 202441791 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307527 S 1 0 1 GOLT1A NA18507 nsv820074 1 202477261 202477711 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418957 S 2 1 0 PLEKHA6 AK1 esv2449168 1 202504719 202505755 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195219 S 1 1 0 PLEKHA6 NA18507 esv267741 1 202505060 202505395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558191,essv2565803,essv2575901,essv2540969,essv2525951,essv2522738,essv2543907,essv2556749,essv2568177,essv2545623,essv2523091,essv2531821,essv2548537,essv2521764,essv2576690,essv2525454,essv2535331,essv2554036,essv2544352,essv2552093,essv2520538,essv2547584,essv2529252,essv2558703,essv2577977,essv2553578,essv2565307,essv2576179,essv2520115,essv2564258,essv2530742,essv2561825,essv2537566,essv2528366,essv2546729,essv2557051,essv2552373,essv2532046,essv2569227,essv2537010,essv2539155,essv2569769,essv2527337,essv2561636,essv2523540,essv2552996,essv2541324,essv2542667,essv2539909,essv2549423,essv2519756,essv2559816,essv2522289,essv2566163,essv2531138,essv2532527,essv2567955,essv2528771,essv2567593,essv2541724,essv2570205,essv2553199,essv2559164,essv2550893,essv2569034,essv2543581,essv2527915,essv2562472,essv2534058,essv2578203,essv2573253,essv2555378,essv2533742,essv2567192,essv2566664,essv2529972,essv2527461,essv2555816,essv2531657,essv2573636,essv2543038,essv2577105,essv2571989,essv2525733,essv2526952,essv2529634,essv2575779,essv2538758,essv2524025,essv2560926,essv2530268,essv2572835,essv2560409,essv2548126,essv2551390,essv2536337,essv2538068,essv2549055,essv2533035,essv2554540,essv2547764,essv2525131 M 157 102 0 Samples from several populations that are part of the HapMap project. PLEKHA6 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11918,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18508,NA18517,NA18519,NA18520,NA18522,NA18523,NA18537,NA18542,NA18545,NA18550,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18638,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18952,NA18956,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19129,NA19137,NA19141,NA19143,NA19190,NA19210,NA19257 esv273255 1 202505061 202505394 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581657,essv2582521,essv2583017 M 7 3 0 Samples from several populations that are part of the HapMap project. PLEKHA6 NA12878,NA12891,NA12892 esv3210 1 202581978 202583639 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25651 S 1 0 1 Single Asian sample YH PLEKHA6 YH esv6345 1 202582027 202583460 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28786 S 1 0 1 PLEKHA6 SJK nsv818778 1 202589558 202621867 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417713 S 112 1 0 LOC127841,PLEKHA6 NA18999 esv270741 1 202611646 202611982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540692,essv2546390,essv2521415,essv2526003,essv2542350,essv2522837,essv2523126,essv2531720,essv2577367,essv2552130,essv2564389,essv2559538,essv2564074,essv2552618,essv2561463,essv2541166,essv2565124,essv2567783,essv2569878,essv2535869,essv2550968,essv2569057,essv2543620,essv2527807,essv2534035,essv2578503,essv2555780,essv2534231,essv2531677,essv2525643,essv2529803,essv2575721,essv2526719,essv2572624,essv2568575,essv2560398,essv2549966,essv2558177 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA12004,NA12006,NA12043,NA12489,NA12751,NA12776,NA12828,NA18502,NA18523,NA18545,NA18558,NA18577,NA18593,NA18608,NA18858,NA18861,NA18870,NA18907,NA18916,NA18940,NA18945,NA18959,NA18961,NA18980,NA19093,NA19099,NA19114,NA19143,NA19147,NA19190,NA19225 nsv525847 1 202626220 202632372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702041 S 2026 0 1 "" nsv522489 1 202632372 202637037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705856 S 2026 0 1 "" nsv826409 1 202647269 202650512 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436380 S 31 0 1 PPP1R15B NA18542 esv26808 1 202647732 202651622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14411,esv12296,esv10101 M 451 0 10 "" NA18517,NA18523,NA18861,NA18909,NA18916,NA19114,NA19129,NA19147,NA19240,NA19257 nsv826420 1 202648823 202650512 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424471,nssv1440169,nssv1437983,nssv1427301,nssv1435691,nssv1429603,nssv1432507 M 31 0 7 "" AK14,AK8,NA18564,NA18566,NA18947,NA18951,NA18972 nsv516276 1 202667406 202670282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685629,nssv667277,nssv662853,nssv659349 M 2026 0 4 PIK3C2B esv1350665 1 202706843 202706993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989075 S 2 0 1 PIK3C2B HuRef nsv826431 1 202785758 202787765 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421499 S 31 0 1 MDM4 NA18997 nsv4154 1 202791881 202855825 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4904,nssv3667 M 9 2 0 LRRN2,MDM4 NA12878,NA19129 esv271419 1 202861170 202861255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517167 S 157 1 0 Samples from several populations that are part of the HapMap project. LRRN2 hapmap_pooled_sample_set nsv506974 1 202927126 202933126 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619259 S 4 1 0 "" NA10860 esv275014 1 202953677 202958821 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585974,essv2585774 M 1250 1 1 "" nsv873112 1 202996381 203100832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530305 S 6533 1 0 NFASC MS10296 nsv524853 1 203027980 203039360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700856 S 2026 0 1 "" esv270254 1 203088868 203094946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500941,essv2509157 M 157 2 0 Samples from several populations that are part of the HapMap project. NFASC NA18856,NA18909 esv1007437 1 203109907 203121008 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565775 S 3 0 1 NFASC HuRef nsv521899 1 203143589 203147961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694670 S 2026 0 1 NFASC nsv4165 1 203220255 203252353 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10450 S 9 1 0 NFASC NA18956 nsv819953 1 203322620 203323163 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418997 S 2 0 1 RBBP5 AK1 nsv468016 1 203350743 203429680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543151 S 1557 0 1 DSTYK,RBBP5 NINDS_159 esv29655 1 203372947 203374286 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12318 S 451 0 1 "" NA18916 esv1503810 1 203445294 203445397 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825156 S 2 0 0 DSTYK HuRef nsv832381 1 203525992 203715339 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441633 S 95 1 0 KLHDC8A,LEMD1,LOC284576,MIR135B,NUAK2 nsv525872 1 203527797 203529927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702072 S 2026 0 1 "" nsv873113 1 203589557 203622526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553153 S 6533 0 1 KLHDC8A,LEMD1,LOC284576 MS19771 nsv873114 1 203610271 203647901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530306 S 6533 1 0 LEMD1,LOC284576 MS10296 nsv873115 1 203684757 203776865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546468 S 6533 0 1 CDK18 MS17208 nsv4176 1 203701197 203735633 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2745 S 9 1 0 "" NA18555 nsv509602 1 203714590 203800276 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619821 S 4 1 0 CDK18,LOC284578 NA10860 nsv468027 1 203737459 203766324 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543162 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDK18 HGDP00973 nsv820091 1 203765769 203767389 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419293 S 2 1 0 CDK18 AK1 nsv159784 1 203799213 203799213 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178362 M 24 "" esv259713 1 203839214 203839531 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394795,essv2399037,essv2397533,essv2400894,essv2395782,essv2400572,essv2398107,essv2399388,essv2396645,essv2399200,essv2395585,essv2399226,essv2396538,essv2399421,essv2394631,essv2398234,essv2395865,essv2397770,essv2398356,essv2395210,essv2399784,essv2398718 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11992,NA11993,NA12004,NA12043,NA12144,NA12287,NA12414,NA12776,NA18501,NA18508,NA18517,NA18858,NA18870,NA18909,NA18945,NA18956,NA19093,NA19108,NA19129,NA19190 esv1125095 1 203839424 203839424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765626 S 2 1 0 "" HuRef nsv4188 1 203861202 203895022 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv444 S 9 1 0 ELK4,SLC45A3 NA19240 nsv529048 1 203887792 203888898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705766 S 2026 1 0 "" dgv518n71 1 203892955 203922172 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873117,nsv873116 M 6533 0 2 SLC45A3 SP54956,SP54988 esv1009208 1 204066288 204068922 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571562 S 3 0 1 PM20D1 HuRef esv275594 1 204107895 204111537 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585219,essv2585639 M 1250 1 1 "" nsv832392 1 204118116 204180656 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441634 S 95 1 0 SLC26A9 esv2249382 1 204120044 204120487 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501568 S 1 0 1 "" NA18507 esv2112001 1 204142028 204142431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001272 S 1 0 1 "" NA18507 nsv470777 1 204158259 204181508 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544412 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC26A9 HGDP00298 esv29758 1 204161154 204189296 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21038,esv20317,esv19366 M 451 13 0 SLC26A9 NA11993,NA12156,NA12776,NA18511,NA18858,NA18861,NA18907,NA18916,NA19129,NA19147,NA19190,NA19240,NA19257 esv26345 1 204239359 204372531 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14819,esv12622,esv17780 M 451 21 4 FAM72A NA07037,NA12156,NA12239,NA12414,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv832414 1 204335918 204438576 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441643,nssv1441642 M 95 2 0 AVPR1B,C1orf186 nsv873118 1 204379389 204413276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544222,nssv1531911,nssv1592109,nssv1533193,nssv1571450,nssv1584768,nssv1549611,nssv1546469 M 6533 0 8 AVPR1B,C1orf186 IS32737,IS37172,IS39233,MS10698,MS11054,MS16315,MS17208,MS18276 dgv519n71 1 204390006 204398417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873121,nsv873119 M 6533 0 2 AVPR1B SP54672,SP54956 nsv819252 1 204390067 204390865 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419085 S 2 1 0 "" AK1 dgv520n71 1 204390179 204398417 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873120,nsv873122 M 6533 2 0 AVPR1B SP54614,SP54650 nsv873123 1 204409328 204493121 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506255 S 6533 1 0 C1orf186,CTSE SP54095 esv1695799 1 204443400 204443703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728758 S 2 0 1 C1orf186 HuRef esv1010640 1 204447536 204449155 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563997 S 3 1 0 C1orf186 HuRef esv1000013 1 204447538 204452339 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564663 S 3 0 1 C1orf186 HuRef dgv10e180 1 204447574 204449222 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999615,esv990479 M 3 0 1 C1orf186 HuRef nsv4199 1 204449151 204464292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3677,nssv6088,nssv2749 M 9 3 0 C1orf186 NA12156,NA12878,NA18555 esv28442 1 204449492 204454807 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21103 S 451 1 0 C1orf186 NA11931 nsv499241 1 204451703 204451858 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586169 S 9 1 0 C1orf186 esv991628 1 204452306 204452609 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563557 S 3 1 0 C1orf186 HuRef nsv821120 1 204620809 204650800 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420891 S 1 1 0 SRGAP2 NA10851 esv28559 1 204622578 204670033 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18245,esv16139 M 451 16 0 SRGAP2 NA12156,NA12489,NA12878,NA15510,NA18502,NA18505,NA18523,NA18858,NA18907,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv826442 1 204692127 204692683 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440859 S 31 1 0 SRGAP2 NA18969 dgv521n71 1 204703338 204715001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873125,nsv873124 M 6533 0 2 IKBKE,SRGAP2 SP50159,SP81015 dgv522n71 1 204710681 204722915 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873126,nsv873127 M 6533 2 0 IKBKE SP52077,SP54381 nsv160541 1 204766250 204775640 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179119 M 24 RASSF5 nsv873128 1 204880360 204982432 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530307 S 6533 1 0 DYRK3,MAPKAPK2 MS10296 nsv4210 1 204893270 204906468 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3686 S 9 1 0 "" NA12878 nsv8713 1 204923246 204926386 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23063,nssv21756,nssv23679,nssv22091,nssv24284,nssv27015 M 31 6 0 Samples from several populations that are part of the HapMap project. MAPKAPK2 NA07048,NA10863,NA11830,NA12155,NA12872,NA18504 esv21658 1 204924527 204925571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19669 S 451 0 1 MAPKAPK2 NA12156 esv2314071 1 204983785 204984111 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737632 S 1 0 1 "" NA18507 esv2597499 1 205020979 205022471 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251871 S 1 0 1 "" NA18507 esv2116724 1 205021655 205022204 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834058 S 1 0 1 "" NA18507 esv1601718 1 205068101 205068101 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109934 S 2 1 0 IL19 HuRef esv997006 1 205077473 205085250 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565609 S 3 0 1 IL19 HuRef nsv521261 1 205097608 205102270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697873 S 2026 0 1 "" nsv468049 1 205134463 205203961 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543183 S 1557 0 1 FAIM3,FCAMR,IL24,PIGR NINDS_21 esv2425494 1 205164443 205165291 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267206 S 1 1 0 "" NA18507 esv268029 1 205186280 205186365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516399 S 157 1 0 Samples from several populations that are part of the HapMap project. PIGR NA12814 nsv832426 1 205202152 205369439 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441644 S 95 1 0 C1orf116,C4BPA,C4BPB,FCAMR,PFKFB2,YOD1 nsv526285 1 205202614 205210137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702564 S 2026 0 1 FCAMR nsv526699 1 205303147 205310474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703038 S 2026 0 1 PFKFB2 nsv511134 1 205357749 205360119 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624488 S 1 1 0 C4BPA 1 esv1000470 1 205358868 205359825 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564887 S 3 0 1 C4BPA HuRef esv9705 1 205358978 205359854 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32146 S 1 0 1 C4BPA SJK esv7318 1 205359049 205359837 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29759 S 1 0 0 C4BPA SJK esv28463 1 205359125 205359831 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16778 S 451 28 0 C4BPA NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12239,NA12414,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19225,NA19240,NA19257 nsv821224 1 205359125 205359831 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420902 S 1 0 1 C4BPA NA10851 dgv523n71 1 205537083 205627481 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873129,nsv873130 M 6533 0 2 CD55 SP54808,SP57489 nsv873131 1 205569157 205576422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503537 S 6533 1 0 CD55 SP52077 nsv873132 1 205579357 205636507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504679 S 6533 0 1 CD55 SP52708 nsv4221 1 205593395 205624180 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2665,nssv4924 M 9 0 2 CD55 NA18555,NA19129 nsv508688 1 205596836 205621072 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620145 S 4 0 1 CD55 NA15510 nsv506975 1 205604298 205610298 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617547,nssv623291 M 4 2 0 "" CHM,NA18994 nsv435651 1 205607052 205612772 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465872 S 2 0 1 "" NA15510 esv2650191 1 205608075 205612939 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373166 S 1 0 1 "" NA18507 nsv511728 1 205608162 205612707 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626372 S 1 0 1 "" 1 esv1950731 1 205608448 205612396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4653155 S 1 0 1 "" NA18507 dgv4n47 1 205608586 205612260 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498704,nsv498703 M 9 0 2 "" esv22151 1 205608618 205612197 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15956,esv16894 M 451 12 1 "" NA07045,NA11993,NA11995,NA12156,NA12239,NA12489,NA12828,NA18502,NA18517,NA18909,NA19108,NA19225,NA19257 nsv820725 1 205608618 205612197 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420913 S 1 0 1 "" NA10851 nsv826453 1 205608618 205612197 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428067,nssv1421500,nssv1436381,nssv1434903,nssv1433464,nssv1424483,nssv1437984,nssv1431120,nssv1434216,nssv1437262,nssv1437996,nssv1427302,nssv1426435,nssv1424001,nssv1431862,nssv1423841,nssv1432518,nssv1425548 M 31 0 18 "" AK10,AK18,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18547,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18997 esv990476 1 205608641 205613065 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563909 S 3 0 1 "" HuRef esv1229841 1 205608658 205612259 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619098 S 2 0 1 "" HuRef dgv11e180 1 205609146 205612167 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004602,esv998815 M 3 0 1 "" HuRef nsv826464 1 205610009 205612167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423172,nssv1438622,nssv1424788,nssv1435692,nssv1440860,nssv1428864,nssv1430389 M 31 0 7 "" AK12,AK16,AK2,NA18566,NA18969,NA18973,NA18999 nsv511128 1 205610444 205620431 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626254 S 1 0 1 "" 1 dgv174e1 1 205624518 205819707 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23368,essv9605,essv16056 M 271 0 0 CR1,CR2 NA12750,NA18501,NA19141 dgv175e1 1 205624518 205991690 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22148,essv20595,esv387,essv20075 M 271 0 0 CR1,CR1L,CR2 NA07048,NA07056,NA10857 esv272761 1 205690622 205690988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580523,essv2579288,essv2579648 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269001 1 205690626 205690944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504190,essv2505750,essv2507069,essv2506919,essv2506647,essv2499156,essv2501993,essv2498031 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18861,NA18870,NA19102,NA19108,NA19114,NA19239,NA19240 nsv508690 1 205744364 205837057 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622786,nssv617393,nssv618998,nssv620146 M 4 0 4 CR1 CHM,NA10860,NA15510,NA18994 nsv4232 1 205756245 205827755 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11178,nssv6098,nssv453,nssv2681,nssv4934,nssv9670,nssv9390,nssv3695 M 9 0 8 CR1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA19129,NA19240 nsv821188 1 205762356 205821816 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420924 S 1 0 1 CR1 NA10851 nsv826476 1 205762356 205821816 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425549,nssv1423173,nssv1423852,nssv1428068,nssv1431865,nssv1436382,nssv1424789,nssv1432532,nssv1440170,nssv1437986,nssv1421501,nssv1438623,nssv1434217,nssv1434904,nssv1433465,nssv1439502,nssv1427303,nssv1426436,nssv1437264,nssv1438007,nssv1424003,nssv1429604,nssv1422412,nssv1435693,nssv1440861,nssv1435074,nssv1431121,nssv1430390,nssv1428865 M 31 0 29 CR1 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv26263 1 205763104 205821509 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20307,esv11404,esv19203 M 451 15 4 CR1 NA06985,NA07037,NA11931,NA11995,NA12006,NA12239,NA12287,NA12489,NA12749,NA12878,NA18502,NA18511,NA18523,NA18858,NA18909,NA19099,NA19190,NA19225,NA19257 nsv124 1 205763497 205805949 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv124 S 1 0 1 CR1 NA15510 nsv8724 1 205763538 205818327 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23385,nssv23068,nssv24292,nssv23373 M 31 3 1 Samples from several populations that are part of the HapMap project. CR1 NA11830,NA18502,NA18572,NA18860 nsv471426 1 205763569 205818230 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548267,nssv548256,nssv548278 M 3 CR1 nsv514918 1 205765328 205810208 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628460 S 1414 0 0 CR1 dgv5n47 1 205774501 205812328 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498706,nsv498705 M 9 0 2 CR1 dgv6n47 1 205785379 205804283 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498708,nsv498707 M 9 0 2 CR1 nsv436034 1 205792717 205806736 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465874 S 2 1 0 CR1 NA15510 esv33009 1 205803247 205814725 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100774,essv93993,essv97688 M 51 1 2 CR1 21656,21802,22278 nsv514919 1 205813296 205815968 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628461 S 1414 0 0 CR1 nsv826487 1 205880935 205881576 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435185 S 31 1 0 CR1 NA18592 nsv8735 1 205888316 205895072 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24585,nssv21759,nssv25712,nssv22425 M 31 4 0 Samples from several populations that are part of the HapMap project. CR1L NA12740,NA18537,NA18563,NA18975 nsv8746 1 205906876 205914498 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20420,nssv24582,nssv26857,nssv23378,nssv27747 M 31 0 5 Samples from several populations that are part of the HapMap project. CR1L NA18502,NA18517,NA18853,NA18860,NA19221 esv25546 1 205907825 205912404 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11321 S 451 0 3 CR1L NA18502,NA18517,NA19099 esv27524 1 205925624 205926319 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19792 S 451 0 1 CR1L NA18909 nsv8757 1 205938138 205940575 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23683 S 31 1 0 Samples from several populations that are part of the HapMap project. CR1L NA11830 esv2127231 1 206086601 206086983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868960 S 1 0 1 "" NA18507 nsv4243 1 206102175 206134545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv464 S 9 1 0 CD34 NA19240 nsv873133 1 206122289 206188483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530308 S 6533 1 0 CD34 MS10296 nsv4254 1 206188079 206232793 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8005 S 9 0 1 "" NA12156 nsv4265 1 206202118 206247709 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6108,nssv2759 M 9 2 0 "" NA12156,NA18555 nsv4276 1 206299457 206323920 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3704 S 9 1 0 PLXNA2 NA12878 esv268916 1 206330571 206330656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517164 S 157 1 0 Samples from several populations that are part of the HapMap project. PLXNA2 hapmap_pooled_sample_set nsv4287 1 206343961 206376945 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv475 S 9 1 0 PLXNA2 NA19240 nsv832437 1 206365584 206526445 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441646,nssv1441645,nssv1441647 M 95 1 2 PLXNA2 nsv470778 1 206387741 206398272 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544413 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLXNA2 HGDP00716 esv28439 1 206483039 206484784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9916 S 451 0 1 PLXNA2 NA12156 dgv14e55 1 206492331 206521802 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750826,esv2750827 M 771 2 0 "" BEC_494,BEC_520 dgv15e55 1 206510145 206521802 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750828,esv34329 M 771 2 0 "" NA12146,SPC_18 dgv176e1 1 206510145 206563741 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1395,essv20750 M 271 0 0 "" NA07357 nsv818789 1 206512423 206523545 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418343 S 112 1 0 "" NA12146 essv21567 1 206512982 206525714 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12146 nsv522684 1 206577428 206580351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706093 S 2026 0 1 "" esv270190 1 206583966 206584051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513859 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv832448 1 206602034 206791859 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441648 S 95 1 0 "" nsv873134 1 206700625 206750192 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530309 S 6533 1 0 "" MS10296 nsv506976 1 206756166 206762166 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617548 S 4 1 0 "" CHM esv268239 1 206758086 206758418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543822,essv2544311,essv2530781,essv2537359,essv2528474,essv2551793,essv2532152,essv2578567,essv2539216,essv2544904,essv2563041,essv2523498,essv2552877,essv2541371,essv2565095,essv2539560,essv2549541,essv2559930,essv2522102,essv2565919,essv2531044,essv2567985,essv2541832,essv2570163,essv2563813,essv2535737,essv2550934,essv2569168,essv2527845,essv2562485,essv2534172,essv2578272,essv2573003,essv2533584,essv2555596,essv2566541,essv2529884,essv2573915,essv2527553,essv2534329,essv2573415,essv2543189,essv2525616,essv2529428,essv2575644,essv2560344,essv2549722,essv2571450,essv2545794,essv2574530,essv2548682 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11992,NA12414,NA12873,NA12878,NA12891,NA18504,NA18505,NA18510,NA18519,NA18526,NA18532,NA18537,NA18542,NA18545,NA18558,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18577,NA18592,NA18593,NA18603,NA18608,NA18858,NA18861,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18959,NA18964,NA18965,NA18980,NA19093,NA19099,NA19190,NA19225,NA19238,NA19239,NA19240 esv274444 1 206758086 206758418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582059,essv2582633,essv2584067,essv2584834,essv2583743 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv268524 1 206829407 206829665 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525828,essv2543891 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11992 nsv7189 1 206840755 206884716 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6116 S 9 0 0 "" NA12156 nsv832459 1 206883653 207054953 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441649 S 95 1 0 "" nsv832470 1 207065001 207205914 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441650 S 95 1 0 "" nsv873135 1 207098611 207169175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530310 S 6533 1 0 "" MS10296 nsv873136 1 207134335 207184923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582165 S 6533 0 1 "" IS35803 nsv4299 1 207138762 207169193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10460 S 9 1 0 "" NA18956 nsv438137 1 207188300 207192596 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469818,nssv469807,nssv469896,nssv469885,nssv469907,nssv469929,nssv469918,nssv469852,nssv469840,nssv469874,nssv469796,nssv469829,nssv469785,nssv469863 M 269 0 13 Samples from several populations that are part of the HapMap project. "" NA06991,NA06993,NA10851,NA10857,NA10861,NA10863,NA11995,NA12044,NA12056,NA12234,NA12264,NA12740,NA12751 nsv873137 1 207368194 207405296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530311 S 6533 1 0 "" MS10296 nsv522816 1 207391661 207409245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698463 S 2026 0 1 "" dgv6n68 1 207437899 207655935 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832481,nsv832492 M 95 0 2 "" nsv4310 1 207455627 207488303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6123 S 9 1 0 "" NA12156 esv1008555 1 207476200 207483119 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565638 S 3 0 1 "" HuRef esv270809 1 207605351 207605655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518025 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv270283 1 207659940 207660025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517102 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv873138 1 207661961 207718158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530312 S 6533 1 0 LOC642587,MIR205 MS10296 nsv4321 1 207688424 207695033 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8033 S 9 0 1 "" NA12156 esv29558 1 207698994 207699697 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17828 S 451 0 9 "" NA18505,NA18517,NA18523,NA18861,NA19099,NA19108,NA19129,NA19190,NA19257 nsv4332 1 207779437 207813110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2763 S 9 1 0 "" NA18555 nsv873139 1 207895578 208117417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530313 S 6533 1 0 C1orf74,DIEXF,G0S2,HSD11B1,IRF6,TRAF3IP3 MS10296 nsv525445 1 207951941 207979216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701573 S 2026 0 1 HSD11B1 nsv4343 1 207996555 208041500 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8043 S 9 0 1 C1orf74,IRF6,TRAF3IP3 NA12156 nsv159698 1 208001959 208002699 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178276 M 24 TRAF3IP3 esv2491231 1 208011281 208011470 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241723 S 1 0 1 TRAF3IP3 NA18507 nsv873140 1 208134740 208402267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579788 S 6533 0 1 SYT14 IS35181 nsv4354 1 208137197 208167406 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1685,nssv10467,nssv4940,nssv9397,nssv9676 M 9 0 5 "" NA18507,NA18517,NA18555,NA18956,NA19129 nsv826498 1 208142550 208152759 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423175,nssv1431122,nssv1440171,nssv1421502,nssv1438018,nssv1434905,nssv1436383,nssv1425550,nssv1437987,nssv1433466,nssv1440862,nssv1429605,nssv1422413,nssv1435694,nssv1424790,nssv1430391 M 31 0 16 "" AK14,AK16,AK18,AK2,AK4,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18942,NA18951,NA18969,NA18997,NA18999 esv2481942 1 208143127 208160461 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165590 S 1 0 1 "" NA18507 esv2524131 1 208143646 208152866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190096 S 1 0 1 "" NA18507 nsv436646 1 208143946 208152620 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465875 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv820382 1 208144233 208152759 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420935 S 1 0 1 "" NA10851 esv1002272 1 208144266 208159912 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565226 S 3 0 1 "" HuRef esv2283783 1 208144493 208152787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868425 S 1 0 1 "" NA18507 esv28232 1 208144616 208152585 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9854 S 451 7 12 "" NA06985,NA11894,NA11993,NA12004,NA12239,NA12287,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18909,NA19099,NA19108,NA19225,NA19240,NA19257 nsv826509 1 208144638 208150343 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432543,nssv1434218,nssv1437265,nssv1439503,nssv1424004,nssv1424495 M 31 1 5 "" NA18537,NA18570,NA18582,NA18947,NA18949,NA18972 nsv514039 1 208144656 208152816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628014 S 1414 0 1 "" nsv498709 1 208144678 208152601 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585424 S 9 0 1 "" nsv160131 1 208144679 208152594 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178709 M 24 "" esv9127 1 208144681 208152605 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31568 S 1 0 1 "" SJK esv2422020 1 208148236 208150607 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104147,essv5150155,essv5038465,essv5021921,essv5010608,essv5082290,essv5147058,essv5157371,essv5038929,essv5023891,essv5030575,essv5072285,essv5040494,essv5118547,essv5096640,essv5014451,essv5054441,essv5059396,essv5107017,essv5028539,essv5113478,essv5152886,essv5069501,essv5016784,essv5134914,essv5020646,essv5042506,essv5152184,essv5035233,essv5097868,essv5130842,essv5102434,essv5057672,essv5139417,essv5152059,essv5010340,essv5038445,essv5022529,essv5099400,essv5025964,essv5091664,essv5090521,essv5034967,essv5096042,essv5086511,essv5060519,essv5101051,essv5062666,essv5118137,essv5119515,essv5116897,essv5090114,essv5098090,essv5054667,essv5131189,essv5003852,essv5101480,essv5019277,essv5018685,essv5021311,essv5049510,essv5058295,essv5145304,essv5002520,essv5016567,essv5110393,essv5137701,essv5060284,essv5124825,essv5142655,essv5111949,essv5139020,essv5043508,essv5087333,essv5105348,essv5159325,essv5111761,essv5006168,essv5143745,essv5080333,essv5033057,essv5090179,essv5155478,essv5057206,essv5060601,essv5080291,essv5081601,essv5063404,essv5087524,essv5070699,essv5138357,essv5104330,essv5075078,essv5095042,essv5034289,essv5028575,essv5018495,essv5136673,essv5103590,essv5087829,essv5161026,essv5035855,essv5061992,essv5016363,essv5094471,essv5041685,essv5022790,essv5135422,essv5078711,essv5007056,essv5025663,essv5123286,essv5062872,essv5140820,essv5037598,essv5159009,essv5105006,essv5057742,essv5072901,essv5032238,essv5058798,essv5153244,essv5006537,essv5033972,essv5135122,essv5071187,essv5027049,essv5124480,essv5005023,essv5117830,essv5051977,essv5099865,essv5055613,essv5148173,essv5024051,essv5035552,essv5018054,essv5016377,essv5002970,essv5132879,essv5145451,essv5026479,essv5072967,essv5071138,essv5050223,essv5041810,essv5129570,essv5103868,essv5004841,essv5131774,essv5068342,essv5036746,essv5058215,essv5002815,essv5045255,essv5076284,essv5024446,essv5152411,essv5035941,essv5087771,essv5087178,essv5090519,essv5010764,essv5082479,essv5056626,essv5153801,essv5147061,essv5031382,essv5133024,essv5091391,essv5099520,essv5150863,essv5130665,essv5105423,essv5115176,essv5039696,essv5125977,essv5113532,essv5091241,essv5050507,essv5158303,essv5023157,essv5093587,essv5011753,essv5144717,essv5065074,essv5119833,essv5024479,essv5088817,essv5023966,essv5015004,essv5140870,essv5081014,essv5098449,essv5140817,essv5148194,essv5050572,essv5071395,essv5014060,essv5065790,essv5105234,essv5029360,essv5090614,essv5013099,essv5120415,essv5060369,essv5063535,essv5109596,essv5012763,essv5039209,essv5158308,essv5023513,essv5148040,essv5154444,essv5044679,essv5018461,essv5044113,essv5149157,essv5049702,essv5030123,essv5048424,essv5084432,essv5038964,essv5093770,essv5056586,essv5066950,essv5107392,essv5016971,essv5041604,essv5126498,essv5111474,essv5019735,essv5018555,essv5136136,essv5058239,essv5142466,essv5132028,essv5033502,essv5117366,essv5064086,essv5020879,essv5080542,essv5053052,essv5132379,essv5073141,essv5032775,essv5096925,essv5082966,essv5040670,essv5100687,essv5023958,essv5062102,essv5062664,essv5159453,essv5140612,essv5037461,essv5093330,essv5069404,essv5063229,essv5115880,essv5055521,essv5155759,essv5132748,essv5138306,essv5007677,essv5044790,essv5159430,essv5109962,essv5103431,essv5043417,essv5030314,essv5092032,essv5122678,essv5085746,essv5023283,essv5114313,essv5154257,essv5088169,essv5088964,essv5076031,essv5098351,essv5097806,essv5077680,essv5053747,essv5130612,essv5043212,essv5007443,essv5088146,essv5119344,essv5142992,essv5100409,essv5033906,essv5142975,essv5058328,essv5023432,essv5093642,essv5019112,essv5046084,essv5092945,essv5078962,essv5012395,essv5021141,essv5147177,essv5092194,essv5118807,essv5155488,essv5066602,essv5137110,essv5055730,essv5148765,essv5068459,essv5093802,essv5003510,essv5082959,essv5123456,essv5145016,essv5037054,essv5034322,essv5073234,essv5120487,essv5127938,essv5061116,essv5088353,essv5026559,essv5146242,essv5114296,essv5006637,essv5108142,essv5016512,essv5129782,essv5063658,essv5089171,essv5088221,essv5052827,essv5121870,essv5125805,essv5106135,essv5083076,essv5089787,essv5057511,essv5099926,essv5094627,essv5071490,essv5070254,essv5010326,essv5147434,essv5007499,essv5135716,essv5087510,essv5054334,essv5031338,essv5078185,essv5040959,essv5003564,essv5134927,essv5083800,essv5111848,essv5012065,essv5093341,essv5149338,essv5060942,essv5126805,essv5062874,essv5033243,essv5119762,essv5100627,essv5085952,essv5027359,essv5050916,essv5025736,essv5128872,essv5028115,essv5060509,essv5039925,essv5108547,essv5136614,essv5156538,essv5153033,essv5140955,essv5030586,essv5141363,essv5035455,essv5010111,essv5016055,essv5007948,essv5100528,essv5107133,essv5070449,essv5021715,essv5152000,essv5064469,essv5071632,essv5025101,essv5019744,essv5015116,essv5089426,essv5026326,essv5118601,essv5151488,essv5071530,essv5133578,essv5066729,essv5018741,essv5091012,essv5032916,essv5095854,essv5143887,essv5129282,essv5092415,essv5109685,essv5068809,essv5080790,essv5031786,essv5037613,essv5150042,essv5155270,essv5034211,essv5093331,essv5026497,essv5136205,essv5145040,essv5141806,essv5097482,essv5137972,essv5151234,essv5042573,essv5037596,essv5129042,essv5102063,essv5087393,essv5063545,essv5077006,essv5079536,essv5062034,essv5160189,essv5024535,essv5006701,essv5055063,essv5065737,essv5084466,essv5025738,essv5100703,essv5080330,essv5149024,essv5080261,essv5017085,essv5113678,essv5041398,essv5011155,essv5089018,essv5006563,essv5160572,essv5147384,essv5017365,essv5052259,essv5096717,essv5017711,essv5159733,essv5004582,essv5149912,essv5110255,essv5009772,essv5088180,essv5043705,essv5015134,essv5029622,essv5123505,essv5151533,essv5153325,essv5059215,essv5040394,essv5072707,essv5138110,essv5078184,essv5002322,essv5140877,essv5118140,essv5137979,essv5050758,essv5063957,essv5063547,essv5019930,essv5141851,essv5139444,essv5108441,essv5107730,essv5044900,essv5036132,essv5127785,essv5157015,essv5052278,essv5017190,essv5046001,essv5017051,essv5131331,essv5068968,essv5020278,essv5158439,essv5070405,essv5103443,essv5072137,essv5068641,essv5033253,essv5128742,essv5060618,essv5071717,essv5061040,essv5120027,essv5120031,essv5157579,essv5110436,essv5013535,essv5147921,essv5028342,essv5108085,essv5152217,essv5147211,essv5045147,essv5156087,essv5141785,essv5139929,essv5055144,essv5031610,essv5021217,essv5002036,essv5129205,essv5116525,essv5053216,essv5135611,essv5052492,essv5037096,essv5110408,essv5095290,essv5042945,essv5027768,essv5071465,essv5053027,essv5099248,essv5141905,essv5049183,essv5072772,essv5107071,essv5068351,essv5141831,essv5116586,essv5130664,essv5032713,essv5140927,essv5065061,essv5013173,essv5119694,essv5037411,essv5135281,essv5083343,essv5086989,essv5060594,essv5018244,essv5054359,essv5140547,essv5018412,essv5132642,essv5071651,essv5094405,essv5054711,essv5081241,essv5126270,essv5089794,essv5008995,essv5045384,essv5006996,essv5002283,essv5021441,essv5159667,essv5006463,essv5156774,essv5157310,essv5037046,essv5091951,essv5133734,essv5085465,essv5038638,essv5102580,essv5145531,essv5156658,essv5037064,essv5022398,essv5034687,essv5069701,essv5086216,essv5088375,essv5068105,essv5009967,essv5097639,essv5095223,essv5008277,essv5037289,essv5160129,essv5032222,essv5004739,essv5084359,essv5077506,essv5063903,essv5135484,essv5134820,essv5005709,essv5107367,essv5116411,essv5021080,essv5011377,essv5102776,essv5061023,essv5158437,essv5022478,essv5003957,essv5140493,essv5120673,essv5046103,essv5107134,essv5152419,essv5117008,essv5048902,essv5155969,essv5099729,essv5075287,essv5140409,essv5127240,essv5010280,essv5048190,essv5087718,essv5066483,essv5070779,essv5043776,essv5038439,essv5113986,essv5080822,essv5122654,essv5009247,essv5121622,essv5052277,essv5018623,essv5008288,essv5027280,essv5152918,essv5120802,essv5091773,essv5038760,essv5125803,essv5128253,essv5015928,essv5099287,essv5118679,essv5086622,essv5066214,essv5025553,essv5042097,essv5004253,essv5101827,essv5119780,essv5106948,essv5077407,essv5151647,essv5049345,essv5007733,essv5134893,essv5145654,essv5082012,essv5057423,essv5111202,essv5020333,essv5107861,essv5101999,essv5085054,essv5099354,essv5112706,essv5044867,essv5014518,essv5008511,essv5049006,essv5148449,essv5138526,essv5123938,essv5034952,essv5089393,essv5128999,essv5148882,essv5149300,essv5094322,essv5035692,essv5050164,essv5138464,essv5144706,essv5120036,essv5075609,essv5159002,essv5056783,essv5062786,essv5123692,essv5148372,essv5120314,essv5014362,essv5053997,essv5143198,essv5140163,essv5106438,essv5048795,essv5043042,essv5088310,essv5092718,essv5133429,essv5116587,essv5160889,essv5160867,essv5154991,essv5125843,essv5007291,essv5128964,essv5007081,essv5050300,essv5104434,essv5012043,essv5160126,essv5078149,essv5103963,essv5101956,essv5101831,essv5109976,essv5024335,essv5060645,essv5124867,essv5119827,essv5118455,essv5152418,essv5117906,essv5030549,essv5131369,essv5115281,essv5093790,essv5058498,essv5085554,essv5080334,essv5045299,essv5064995,essv5043960,essv5126407,essv5077674,essv5111329,essv5044225,essv5034243,essv5060288,essv5052475,essv5021875,essv5102798,essv5102820,essv5152787,essv5074029,essv5070422,essv5038304,essv5084625,essv5108638,essv5046786,essv5102765,essv5063069,essv5120674,essv5105917,essv5067649,essv5131814,essv5158053,essv5015294,essv5062831,essv5064020,essv5134869,essv5020144,essv5105634,essv5108385,essv5143802,essv5061115,essv5036503,essv5088866,essv5132016,essv5066638,essv5087603,essv5091608,essv5136579,essv5061815,essv5013599,essv5045587,essv5016127,essv5140385,essv5073774,essv5010451,essv5118038,essv5054585,essv5055054,essv5075497,essv5096627,essv5143959,essv5019887,essv5002384,essv5051024,essv5098623,essv5062063,essv5111582,essv5071708,essv5006276,essv5150082,essv5092641,essv5037475,essv5112348,essv5032544,essv5111961,essv5153466,essv5072623,essv5132038,essv5016243,essv5143659,essv5028047,essv5055745,essv5067695,essv5018038,essv5075603,essv5084854,essv5140178,essv5023279,essv5054531,essv5018103,essv5046425,essv5160519,essv5086051,essv5157726,essv5149128,essv5014591,essv5068007,essv5036887,essv5039284,essv5003450,essv5138900,essv5157923,essv5101472,essv5097872,essv5094702,essv5093434,essv5040081,essv5017136,essv5078231,essv5017871,essv5128642,essv5060025,essv5084638,essv5144904,essv5066302,essv5131444,essv5150127,essv5018458,essv5107289,essv5097500,essv5050571,essv5074639,essv5145103,essv5118165,essv5023758,essv5159513,essv5061022,essv5032855,essv5102834,essv5020534,essv5015968,essv5051634,essv5023460,essv5154045,essv5014939,essv5003811,essv5047786,essv5007317,essv5082417,essv5064282,essv5019517,essv5114264,essv5025113,essv5004181,essv5079641,essv5057876,essv5022115,essv5084389,essv5101887,essv5158752,essv5007266,essv5059229,essv5030005,essv5118474,essv5067875,essv5088168,essv5019315,essv5089433,essv5039727,essv5080169,essv5067669,essv5023541,essv5114238,essv5015752,essv5072351,essv5125455,essv5033752,essv5036173,essv5076893,essv5087763,essv5152389,essv5068203,essv5051582,essv5145106,essv5127494,essv5014013,essv5059794,essv5063182,essv5075237,essv5006529,essv5142591,essv5070799,essv5155633,essv5014059,essv5075456 M 1184 0 920 "" NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11891,NA11892,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12005,NA12006,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12760,NA12763,NA12766,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12830,NA12832,NA12842,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA12892,NA17966,NA17967,NA17969,NA17974,NA17975,NA17976,NA17977,NA17979,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17996,NA17997,NA17998,NA18102,NA18108,NA18109,NA18112,NA18114,NA18117,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18133,NA18134,NA18135,NA18136,NA18138,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18152,NA18154,NA18156,NA18158,NA18159,NA18160,NA18161,NA18162,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18505,NA18506,NA18507,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18542,NA18544,NA18545,NA18546,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18595,NA18597,NA18599,NA18602,NA18605,NA18609,NA18610,NA18612,NA18613,NA18614,NA18617,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18631,NA18632,NA18635,NA18636,NA18637,NA18639,NA18640,NA18641,NA18645,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18953,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18965,NA18967,NA18969,NA18971,NA18972,NA18974,NA18975,NA18976,NA18977,NA18979,NA18981,NA18987,NA18990,NA18991,NA18994,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19054,NA19055,NA19056,NA19058,NA19059,NA19064,NA19065,NA19067,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19084,NA19086,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19121,NA19122,NA19123,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19152,NA19153,NA19154,NA19159,NA19172,NA19173,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19190,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19226,NA19235,NA19236,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19319,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19350,NA19352,NA19359,NA19372,NA19374,NA19375,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19434,NA19435,NA19436,NA19438,NA19440,NA19443,NA19445,NA19448,NA19451,NA19452,NA19455,NA19457,NA19462,NA19463,NA19467,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19652,NA19653,NA19656,NA19657,NA19658,NA19659,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19684,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19721,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19777,NA19779,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19819,NA19828,NA19834,NA19836,NA19900,NA19908,NA19909,NA19914,NA19915,NA19917,NA19919,NA19985,NA20126,NA20127,NA20128,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20356,NA20357,NA20358,NA20359,NA20360,NA20364,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20515,NA20516,NA20519,NA20522,NA20524,NA20525,NA20527,NA20529,NA20530,NA20531,NA20534,NA20538,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20769,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20785,NA20787,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20813,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20883,NA20884,NA20885,NA20887,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20910,NA21088,NA21090,NA21091,NA21092,NA21094,NA21098,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21107,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21300,NA21302,NA21303,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21355,NA21356,NA21357,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21485,NA21486,NA21487,NA21488,NA21489,NA21491,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21524,NA21525,NA21527,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21583,NA21587,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21616,NA21617,NA21631,NA21632,NA21648,NA21678,NA21682,NA21683,NA21686,NA21689,NA21693,NA21717,NA21718,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21776 nsv442573 1 208148236 208150607 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv160698 1 208230498 208230498 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179276 M 24 SYT14 dgv524n71 1 208294754 208363533 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873143,nsv873142,nsv873141 M 6533 0 3 SYT14 SP53041,SP56004,SP57367 nsv873144 1 208319145 208414040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509445 S 6533 0 1 SYT14 SP54792 nsv818800 1 208325276 208370942 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417434 S 112 1 0 SYT14 NA18952 esv2561272 1 208361201 208362867 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378829 S 1 0 1 SYT14 NA18507 esv2399148 1 208361749 208362439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953576 S 1 0 1 SYT14 NA18507 esv4684 1 208361879 208362293 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27125 S 1 0 1 Single Asian sample YH SYT14 YH esv1564426 1 208361943 208362262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684442 S 2 0 1 SYT14 HuRef esv8433 1 208361951 208362305 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30874 S 1 0 1 SYT14 SJK nsv4365 1 208368813 208400929 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3719 S 9 1 0 SYT14 NA12878 dgv525n71 1 208369218 208414040 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873146,nsv873145 M 6533 0 2 SYT14 IS31067,IS36219 nsv468072 1 208370942 208404819 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543205 S 1557 0 1 SYT14 1780862001_A nsv526050 1 208447880 208453208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702287 S 2026 0 1 "" nsv8769 1 208470132 208631211 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25158,nssv27021,nssv24574 M 31 3 0 Samples from several populations that are part of the HapMap project. C1orf133,HHAT,SERTAD4 NA07029,NA18504,NA18517 dgv177e1 1 208646146 208687402 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10494,essv8064,esv993,essv13970 M 271 0 0 HHAT NA19143,NA19160,NA19161 nsv515857 1 208670753 208680239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686153,nssv677861,nssv699524,nssv673890,nssv690432,nssv665032,nssv670153,nssv660922,nssv692528,nssv668526,nssv675250,nssv686575,nssv682738 M 2026 0 13 HHAT nsv818811 1 208670753 208680239 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418132,nssv1418133 M 112 0 2 HHAT NA19143,NA19145 nsv441734 1 208671369 208679147 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HHAT esv2421437 1 208671369 208680239 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5099042,essv5150439,essv5065649,essv5131715,essv5065423,essv5141876,essv5055585,essv5021859,essv5113616,essv5085125,essv5108870,essv5005621,essv5146125,essv5045329,essv5091852,essv5093709,essv5054433,essv5099353,essv5043492,essv5053282,essv5017139,essv5142834,essv5097481 M 1184 0 23 HHAT NA19095,NA19097,NA19121,NA19123,NA19143,NA19160,NA19161,NA19176,NA19204,NA19213,NA19327,NA19403,NA19468,NA19471,NA19472,NA19718,NA20288,NA20332,NA20333,NA20356,NA20358,NA21295,NA21524 nsv514040 1 208671680 208678576 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628025 S 1414 0 1 HHAT essv14669 1 208672186 208687115 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. HHAT NA19145 nsv4376 1 208694243 208738949 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8049 S 9 0 1 HHAT NA12156 esv2497060 1 208705231 208706645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390708 S 1 0 1 HHAT NA18507 esv2255563 1 208705727 208706165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673627 S 1 0 1 HHAT NA18507 esv989821 1 208705824 208705943 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581153 S 3 0 1 HHAT HuRef esv1269016 1 208705958 208706078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777678 S 2 0 1 HHAT HuRef esv275540 1 208724959 208729623 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585673,essv2585193 M 1250 1 1 HHAT nsv873147 1 208732206 208763429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540102 S 6533 1 0 HHAT MS14684 nsv873148 1 208732206 209060962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557878 S 6533 1 0 HHAT,KCNH1 MS22962 esv3935 1 208773111 208773480 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26376 S 1 0 1 Single Asian sample YH HHAT YH esv2193652 1 208773124 208773527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700281 S 1 0 1 HHAT NA18507 esv1006570 1 208773228 208773327 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578280 S 3 0 1 HHAT HuRef esv1205334 1 208773316 208773416 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690204 S 2 0 1 HHAT HuRef esv988198 1 208773923 208783175 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564955 S 3 0 1 HHAT HuRef nsv819787 1 208788822 208791691 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419484 S 2 1 0 HHAT AK1 nsv435854 1 208788878 208793886 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465876 S 2 0 1 HHAT NA15510 esv4955 1 208788882 208791631 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27396 S 1 0 1 Single Asian sample YH HHAT YH dgv98n67 1 208789026 208791761 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826531,nsv826520 M 31 0 18 HHAT AK10,AK12,AK14,AK20,AK4,AK6,NA18542,NA18547,NA18552,NA18564,NA18570,NA18592,NA18949,NA18951,NA18968,NA18969,NA18973,NA18999 nsv820875 1 208789026 208791761 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420946 S 1 0 1 HHAT NA10851 esv6795 1 208789085 208791512 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29236 S 1 0 1 HHAT SJK esv22101 1 208789097 208791588 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13554 S 451 34 2 HHAT NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv873149 1 208815935 208860595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540103 S 6533 1 0 HHAT MS14684 nsv522480 1 208846559 208914967 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705847 S 2026 1 0 HHAT nsv523712 1 208856543 208856837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699525 S 2026 0 1 HHAT nsv4387 1 208869521 208916934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6133,nssv2770,nssv3728 M 9 3 0 HHAT NA12156,NA12878,NA18555 nsv873150 1 208874893 208959856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540104 S 6533 1 0 HHAT,KCNH1 MS14684 nsv509624 1 208883751 208904288 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623810,nssv617998,nssv619823,nssv621109 M 4 4 0 HHAT CHM,NA10860,NA15510,NA18994 nsv873151 1 208884970 208913511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530314 S 6533 1 0 HHAT MS10296 nsv873152 1 208886908 208921438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535456 S 6533 0 1 HHAT,KCNH1 MS12212 esv1178918 1 208893959 208893959 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337516 S 2 1 0 HHAT HuRef esv1059701 1 208893972 208893972 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232772 S 2 1 0 HHAT HuRef esv1079015 1 208893978 208893978 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694579 S 2 1 0 HHAT HuRef esv1365511 1 208893994 208893994 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677249 S 2 1 0 HHAT HuRef esv1524987 1 208894015 208894015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839465 S 2 1 0 HHAT HuRef esv1002583 1 208894165 208896107 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563844 S 3 1 0 HHAT HuRef nsv527699 1 208896071 208896943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704177 S 2026 0 1 HHAT nsv468083 1 208921438 208942815 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543216 S 1557 0 1 KCNH1 NINDS_21 nsv506977 1 208955512 208961512 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620676,nssv617549,nssv619260 M 4 3 0 KCNH1 CHM,NA10860,NA15510 esv1789869 1 208958332 208958332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154448 S 2 1 0 KCNH1 HuRef nsv873153 1 208967104 209060962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540105 S 6533 1 0 KCNH1 MS14684 esv1705029 1 208985123 208985123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359644 S 2 1 0 KCNH1 HuRef nsv832503 1 209015383 209169786 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441654 S 95 1 0 KCNH1 nsv520509 1 209088410 209108213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697461 S 2026 0 1 KCNH1 nsv4398 1 209101205 209145740 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1686 S 9 0 1 KCNH1 NA18555 nsv873154 1 209124320 209183820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556990 S 6533 0 1 KCNH1 MS22322 nsv524740 1 209209731 209222237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700731 S 2026 0 1 KCNH1 nsv524860 1 209219319 209222237 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700864 S 2026 1 0 KCNH1 esv2570583 1 209243714 209245297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282649 S 1 0 1 KCNH1 NA18507 nsv4410 1 209260347 209277194 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8060 S 9 0 1 KCNH1 NA12156 esv2186126 1 209351674 209352018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658662 S 1 0 1 KCNH1 NA18507 esv2456740 1 209435451 209438070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284468 S 1 0 1 "" NA18507 esv2052725 1 209435748 209437298 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956011 S 1 0 1 "" NA18507 esv21988 1 209436373 209437063 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20741 S 451 0 1 "" NA18909 nsv159013 1 209516178 209520373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177591 M 24 RCOR3 esv6409 1 209526039 209526138 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28850 S 1 1 0 RCOR3 SJK nsv508059 1 209612012 209618012 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618520 S 4 0 1 TRAF5 CHM nsv4421 1 209681062 209703759 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv489 S 9 1 0 "" NA19240 nsv832514 1 209696870 209861586 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441655 S 95 0 1 RD3,SLC30A1 esv29853 1 209722223 209723115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16051 S 451 0 1 RD3 NA18916 esv29508 1 209753083 209753675 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19010 S 451 4 0 "" NA11993,NA11995,NA18508,NA18858 nsv826542 1 209817184 209819618 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432554 S 31 1 0 SLC30A1 NA18972 esv27192 1 209817803 209819764 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16536 S 451 0 1 SLC30A1 NA12156 esv1631560 1 209849068 209849068 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818210 S 2 1 0 "" HuRef nsv826553 1 210024882 210025646 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426438 S 31 0 1 LPGAT1 AK6 esv273213 1 210032261 210032396 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580561,essv2579575 M 7 2 0 Samples from several populations that are part of the HapMap project. LPGAT1 NA19238,NA19240 esv2240640 1 210085925 210086359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888380 S 1 0 1 "" NA18507 nsv506978 1 210102912 210108912 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620677,nssv617550 M 4 2 0 "" CHM,NA15510 nsv4432 1 210269784 210302969 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8070 S 9 1 0 DTL,INTS7 NA12156 nsv506979 1 210286223 210292223 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619261 S 4 1 0 DTL NA10860 nsv506980 1 210366646 210372646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623292,nssv620678 M 4 2 0 "" NA15510,NA18994 nsv4443 1 210396629 210431559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3738 S 9 1 0 "" NA12878 nsv518153 1 210411384 210411915 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695574 S 2026 0 1 "" esv987786 1 210426517 210426517 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580165 S 3 1 0 "" HuRef esv997899 1 210483532 210483934 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573417 S 3 0 1 "" HuRef esv2461437 1 210502782 210504383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384663 S 1 0 1 "" NA18507 nsv873155 1 210515818 210568780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509765 S 6533 0 1 PPP2R5A SP54956 esv27948 1 210524948 210526725 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18594 S 451 0 1 PPP2R5A NA12156 esv2464712 1 210537031 210540028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205300 S 1 0 1 PPP2R5A NA18507 nsv511729 1 210537535 210539583 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626373 S 1 0 1 PPP2R5A 1 esv2411059 1 210537566 210539442 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528478 S 1 0 1 PPP2R5A NA18507 dgv7n6 1 210537759 210539257 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159922,nsv160540 M 24 PPP2R5A esv990359 1 210537761 210539241 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573051 S 3 0 1 PPP2R5A HuRef esv7385 1 210537771 210539240 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29826 S 1 0 1 PPP2R5A SJK esv1467950 1 210537776 210539257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350749 S 2 0 1 PPP2R5A HuRef nsv4454 1 210550936 210582215 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6144 S 9 1 0 PPP2R5A NA12156 esv6419 1 210637902 210637960 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28860 S 1 1 0 TMEM206 SJK nsv873156 1 210651715 210712848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530315 S 6533 1 0 NENF,TMEM206 MS10296 dgv526n71 1 210677378 210712848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873157,nsv873158 M 6533 0 4 NENF IS34768,MS18916,MS21195,MS24873 dgv527n71 1 210677378 210750188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873160,nsv873159,nsv873161 M 6533 0 3 NENF MS15672,MS19771,MS24868 nsv873162 1 210677378 210782656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561729 S 6533 0 1 NENF MS25205 nsv527863 1 210684046 210767241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704361 S 2026 0 1 NENF nsv873163 1 210696558 210736098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534678 S 6533 0 1 "" MS11726 nsv524329 1 210698016 210701206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700235 S 2026 0 1 "" nsv519924 1 210698016 210705348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697130 S 2026 0 1 "" esv2541393 1 210708275 210709126 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237539 S 1 1 0 "" NA18507 nsv512756 1 210708308 210708636 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625385 S 1 1 0 "" 1 dgv178e1 1 210714766 210909726 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv15,essv4506 M 271 0 0 ATF3,FAM71A NA18552 nsv8780 1 210722258 210725381 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21085 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 esv9006 1 210766600 210770308 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31447 S 1 0 1 "" SJK esv28337 1 210789659 210790215 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13409 S 451 0 1 "" NA06985 esv268560 1 210832435 210832520 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515847,essv2513829 M 157 2 0 Samples from several populations that are part of the HapMap project. ATF3 NA12873,NA19143 nsv4465 1 210905333 210939038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv499 S 9 1 0 BATF3 NA19240 nsv160457 1 210913883 210921385 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179035 M 24 "" esv272099 1 210957628 210957983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498648,essv2502105 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA19257 esv1096110 1 210965014 210965014 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264638 S 2 1 0 "" HuRef dgv179e1 1 210992052 211073020 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1347,essv23702 M 271 0 0 C1orf227,NSL1,TATDN3 NA12740 nsv159271 1 210992869 210994734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177849 M 24 NSL1 nsv508691 1 211064942 211095015 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617401 S 4 0 1 C1orf227 CHM esv2421907 1 211068711 211077059 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109254,essv5040538,essv5031168,essv5116268,essv5011011,essv5137626,essv5055374,essv5038406,essv5066977,essv5111662,essv5052772,essv5068226,essv5108205,essv5151442,essv5016501,essv5153876,essv5008320,essv5117715,essv5046544,essv5023169,essv5074761,essv5049664,essv5084565,essv5044540,essv5150774,essv5091653,essv5084906,essv5019254,essv5020490,essv5123496,essv5012922,essv5055167,essv5135387,essv5131961,essv5003792,essv5159835,essv5092253,essv5020163,essv5062602,essv5138157,essv5073220,essv5057857,essv5028301,essv5068918,essv5040857,essv5040712,essv5125112,essv5128204,essv5137221 M 1184 0 49 C1orf227 NA07346,NA07347,NA07349,NA10838,NA10847,NA10850,NA10863,NA10865,NA11892,NA11920,NA12146,NA12234,NA12275,NA12740,NA12750,NA12753,NA12763,NA18114,NA18128,NA18159,NA18160,NA18537,NA18548,NA18622,NA18952,NA18973,NA18990,NA18993,NA19000,NA19681,NA19683,NA20300,NA20347,NA20363,NA20512,NA20530,NA20538,NA20581,NA20757,NA20775,NA20799,NA20890,NA21116,NA21318,NA21400,NA21597,NA21634,NA21647,NA21650 nsv8791 1 211068720 211081467 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22753,nssv22086,nssv22089,nssv21755 M 31 0 4 Samples from several populations that are part of the HapMap project. C1orf227 NA10847,NA10863,NA12740,NA18537 nsv826564 1 211068855 211080188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438625,nssv1439504 M 31 0 2 C1orf227 NA18537,NA18973 esv24713 1 211071486 211079763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10902 S 451 0 1 C1orf227 NA12004 nsv514041 1 211071616 211076992 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628036 S 1414 0 1 C1orf227 nsv441735 1 211071638 211077059 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C1orf227 esv32562 1 211072687 211076120 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93958 S 51 0 1 C1orf227 21634 esv1413001 1 211105861 211106030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068619 S 2 0 1 FLVCR1 HuRef dgv99n67 1 211107512 211108982 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826587,nsv826575 M 31 0 2 FLVCR1 NA18526,NA18542 esv1000808 1 211149963 211154069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564326 S 3 0 1 "" HuRef nsv511730 1 211150399 211153269 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626374 S 1 0 1 "" 1 esv29349 1 211198204 211222650 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11434 S 451 1 0 VASH2 NA07045 esv271601 1 211203508 211203849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577424,essv2520779,essv2537031,essv2527343,essv2561720,essv2566948,essv2562494,essv2539479,essv2534146,essv2575567,essv2524102,essv2533140,essv2554356 M 157 13 0 Samples from several populations that are part of the HapMap project. VASH2 NA07051,NA07346,NA12043,NA18498,NA18517,NA18522,NA18523,NA18853,NA18909,NA18912,NA18916,NA19099,NA19129 nsv508692 1 211375659 211397530 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620148 S 4 0 1 RPS6KC1 NA15510 esv28931 1 211381194 211386747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14011 S 451 0 1 RPS6KC1 NA15510 esv1004277 1 211382751 211384818 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586984 S 3 1 0 RPS6KC1 HuRef nsv826598 1 211444740 211453916 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430392 S 31 0 1 RPS6KC1 AK16 esv275574 1 211449295 211460223 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585910,essv2585417 M 1250 1 1 RPS6KC1 nsv4476 1 211452352 211485460 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4941 S 9 1 0 RPS6KC1 NA19129 nsv508693 1 211472843 211488249 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620149 S 4 0 1 RPS6KC1 NA15510 nsv832525 1 211647099 211849438 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441656 S 95 1 0 "" nsv4487 1 211655194 211688274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8083 S 9 1 0 "" NA12156 esv8096 1 211685365 211685454 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30537 S 1 1 0 "" SJK nsv524186 1 211704106 211708566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700068 S 2026 0 1 "" nsv526119 1 211704106 211718771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702369 S 2026 0 1 "" nsv520354 1 211712467 211718771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679184,nssv677183,nssv663143,nssv677840 M 2026 0 4 "" nsv526718 1 211718771 211721202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703058 S 2026 0 1 "" esv2443395 1 211780964 211781159 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220691 S 1 1 0 "" NA18507 esv1564394 1 211781124 211781124 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758985 S 2 1 0 "" HuRef nsv826609 1 211967693 211969579 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437267 S 31 0 1 "" NA18949 esv275485 1 212070341 212080759 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585275 S 1250 0 1 LOC100505832 nsv873164 1 212179052 212291375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530316 S 6533 1 0 LOC100505832,PROX1 MS10296 nsv4498 1 212221429 212256185 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3747 S 9 1 0 PROX1 NA12878 nsv516687 1 212625281 212626674 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687122,nssv658406,nssv687846,nssv678447,nssv693734,nssv691566,nssv658990,nssv681847,nssv670154 M 2026 0 9 PTPN14 esv275028 1 212704431 212705876 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585496 S 1250 0 1 PTPN14 nsv468094 1 212721588 212754348 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543227 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPN14 HGDP00807 esv988434 1 212836026 212837154 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563727 S 3 0 1 "" HuRef esv29119 1 212840830 212845386 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10993 S 451 0 1 CENPF NA12489 esv27146 1 212845464 212849199 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14763 S 451 2 1 CENPF NA12156,NA12239,NA19108 esv2145066 1 212862582 212862923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507931 S 1 0 1 CENPF NA18507 nsv160230 1 212862800 212862889 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178808 M 24 CENPF esv1007536 1 212865341 212870052 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564331 S 3 1 0 CENPF HuRef nsv873165 1 212868922 212956482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568522 S 6533 0 1 CENPF IS31302 nsv436780 1 212889557 212889975 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465877 S 2 1 0 Samples from several populations that are part of the HapMap project. CENPF NA18505 esv2421770 1 212919913 212922145 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5097267,essv5045997,essv5003870,essv5090777,essv5041543,essv5067333,essv5109430,essv5145192,essv5115542,essv5135537,essv5145579,essv5045968,essv5026918 M 1184 0 13 "" NA18870,NA18872,NA18916,NA18924,NA18925,NA18930,NA19113,NA19115,NA19200,NA19316,NA19445,NA19449,NA20342 nsv441736 1 212919913 212922145 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv26357 1 212919939 212923503 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12466 S 451 0 1 "" NA18916 nsv514042 1 212920048 212921920 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628047 S 1414 0 1 "" nsv873166 1 212975718 213044701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541943 S 6533 0 1 "" MS15571 esv274064 1 212977594 212977911 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578896,essv2579540 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271808 1 212977604 212977832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521289,essv2568081,essv2570357,essv2520919,essv2557366,essv2552504,essv2569361,essv2550237,essv2558859,essv2538883,essv2569844,essv2527252,essv2561609,essv2541921,essv2550954,essv2568865,essv2543457,essv2527947,essv2562380,essv2539244,essv2575686,essv2538823,essv2526433,essv2560751,essv2524240,essv2560900,essv2574714,essv2530225,essv2572897,essv2568509,essv2545146,essv2560190,essv2548094,essv2571407,essv2574186,essv2551536,essv2536126 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11894,NA11995,NA12044,NA18498,NA18499,NA18502,NA18508,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA19099,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19238,NA19240,NA19257 nsv4509 1 213010527 213042553 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv518 S 9 1 0 "" NA19240 nsv873167 1 213016984 213183570 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530317 S 6533 1 0 MIR548F3 MS10296 nsv873168 1 213029394 213131011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557978 S 6533 0 1 "" MS23025 esv1007585 1 213029596 213033324 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564754 S 3 0 1 "" HuRef nsv523081 1 213066142 213073562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698772 S 2026 0 1 "" esv1482541 1 213074070 213074070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982560 S 2 1 0 "" HuRef esv8885 1 213075046 213075132 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31326 S 1 1 0 "" SJK nsv4521 1 213144586 213178019 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2771 S 9 1 0 MIR548F3 NA18555 nsv873169 1 213331109 213519909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530318 S 6533 1 0 KCNK2,MIR548F3 MS10296 nsv160908 1 213333691 213333750 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179486 M 24 KCNK2,MIR548F3 esv1046148 1 213333763 213333826 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661406 S 2 0 1 KCNK2,MIR548F3 HuRef esv272120 1 213351882 213352181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2547620,essv2558661,essv2553741,essv2563970,essv2539969,essv2520876,essv2552389,essv2551855,essv2569586,essv2578574,essv2550102,essv2558781,essv2537021,essv2539131,essv2527323,essv2566990,essv2550932,essv2568951,essv2556331,essv2527897,essv2534088,essv2529425,essv2575354,essv2526434,essv2560576,essv2560869,essv2574778,essv2572772,essv2545102,essv2549633,essv2571244,essv2551398,essv2536276 M 157 33 0 Samples from several populations that are part of the HapMap project. KCNK2 NA06986,NA12717,NA12750,NA12763,NA12828,NA18489,NA18498,NA18502,NA18504,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18853,NA18858,NA18861,NA18871,NA18907,NA18916,NA19093,NA19102,NA19114,NA19116,NA19137,NA19138,NA19143,NA19172,NA19225,NA19238,NA19257 esv272882 1 213351884 213352225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580124,essv2580269,essv2579854,essv2579563 M 7 4 0 Samples from several populations that are part of the HapMap project. KCNK2 NA12878,NA12891,NA12892,NA19240 nsv873170 1 213433871 213507598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569711 S 6533 0 1 KCNK2 IS31679 esv1227395 1 213449512 213449512 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359143 S 2 1 0 KCNK2 HuRef dgv24n21 1 213463166 213468645 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527715,nsv518732 M 2026 0 2 KCNK2 esv267571 1 213467527 213467612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518532 S 157 1 0 Samples from several populations that are part of the HapMap project. KCNK2 NA12287 esv1008393 1 213493555 213495746 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563956 S 3 0 1 "" HuRef nsv4532 1 213509281 213531850 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3756 S 9 1 0 "" NA12878 esv4176 1 213558856 213567706 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26617 S 1 0 1 Single Asian sample YH "" YH nsv826620 1 213558859 213563020 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436387,nssv1431123,nssv1424005,nssv1422415,nssv1430393 M 31 0 5 "" AK16,AK18,NA18542,NA18552,NA18582 esv2422168 1 213560092 213565727 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5011784,essv5010967,essv5117978,essv5105830,essv5003060,essv5133166,essv5135954,essv5154180,essv5069777,essv5113438,essv5041946,essv5042025,essv5087950,essv5122184,essv5080001,essv5065625,essv5094018,essv5056641,essv5021041,essv5143760,essv5064445,essv5010542,essv5139991,essv5145455,essv5121835,essv5153728,essv5014277,essv5078615,essv5029069,essv5098153,essv5105889,essv5160653,essv5117562,essv5143458,essv5038865,essv5119005,essv5007822,essv5109503,essv5027015,essv5044013,essv5142373,essv5016349,essv5146292,essv5034767,essv5129430,essv5019574,essv5138969,essv5015482,essv5071405,essv5051991,essv5131348,essv5121675,essv5157670,essv5006066,essv5146980,essv5150424,essv5013465,essv5044532,essv5098509,essv5075341,essv5143184,essv5152799,essv5055050,essv5112971,essv5154125,essv5144844,essv5102022,essv5057239,essv5158566 M 1184 0 69 "" NA07357,NA12832,NA12842,NA17968,NA17974,NA17981,NA17986,NA17995,NA17998,NA18102,NA18108,NA18128,NA18134,NA18140,NA18146,NA18147,NA18148,NA18149,NA18153,NA18160,NA18161,NA18542,NA18546,NA18552,NA18571,NA18582,NA18593,NA18596,NA18602,NA18611,NA18623,NA18626,NA18628,NA18637,NA18638,NA18643,NA18645,NA18670,NA18689,NA18694,NA18954,NA18963,NA19007,NA19058,NA19065,NA19081,NA19649,NA19651,NA19652,NA19654,NA19661,NA19662,NA19663,NA19685,NA19722,NA19725,NA19747,NA19770,NA19772,NA19783,NA19784,NA19788,NA20539,NA20542,NA20772,NA20783,NA20787,NA20790,NA21107 nsv442576 1 213560092 213565727 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514043 1 213560400 213562880 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628058 S 1414 0 1 "" nsv832537 1 213575649 213771728 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441657 S 95 0 1 "" esv9170 1 213605861 213605959 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31611 S 1 1 0 "" SJK nsv4543 1 213780044 213802218 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4958,nssv527 M 9 2 0 "" NA19129,NA19240 nsv873171 1 213891790 213991790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530319 S 6533 1 0 USH2A MS10296 esv23405 1 213915859 213918386 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11246 S 451 0 1 USH2A NA18508 nsv468116 1 213989483 214014031 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543248 S 1557 0 1 USH2A 1780854261_A esv259592 1 214045698 214046307 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394083 S 6 0 0 Samples from several populations that are part of the HapMap project. USH2A NA19239 nsv832548 1 214053712 214242347 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441658 S 95 1 0 USH2A nsv468127 1 214120709 214133060 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543259 S 1557 0 1 USH2A 1798860114_A nsv520724 1 214144387 214146778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689743,nssv674800 M 2026 0 2 USH2A esv1749994 1 214152439 214152501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299364 S 2 0 1 USH2A HuRef nsv527176 1 214178831 214182331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703572 S 2026 0 1 USH2A nsv873172 1 214211450 214348296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597569 S 6533 0 1 USH2A IS40879 dgv528n71 1 214218412 214278612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873174,nsv873173 M 6533 0 2 USH2A IS31044,IS31285 esv2652396 1 214230666 214232142 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339777 S 1 0 1 USH2A NA18507 esv1292949 1 214251939 214252111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232581 S 2 0 1 USH2A HuRef nsv873175 1 214255321 214286404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562472 S 6533 0 1 USH2A MS25617 esv268517 1 214265307 214265677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496773,essv2496202,essv2509311,essv2498685,essv2497557,essv2512024,essv2501831,essv2498060 M 157 8 0 Samples from several populations that are part of the HapMap project. USH2A NA18498,NA18511,NA18909,NA19138,NA19147,NA19238,NA19239,NA19240 esv273238 1 214265328 214265675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584178,essv2584852,essv2583839 M 7 3 0 Samples from several populations that are part of the HapMap project. USH2A NA19238,NA19239,NA19240 nsv873176 1 214316193 214429760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568523 S 6533 0 1 USH2A IS31302 esv6553 1 214341002 214341075 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28994 S 1 1 0 USH2A SJK esv2496367 1 214360677 214362027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191876 S 1 0 1 USH2A NA18507 esv1560943 1 214471202 214471202 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978915 S 2 1 0 USH2A HuRef nsv4554 1 214479836 214512950 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8090 S 9 1 0 USH2A NA12156 esv274110 1 214505121 214505213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584169,essv2583508 M 7 2 0 Samples from several populations that are part of the HapMap project. USH2A NA19238,NA19240 nsv527827 1 214536730 214542165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704323 S 2026 0 1 USH2A nsv523863 1 214584258 214696039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699700 S 2026 0 1 USH2A nsv873177 1 214688831 214706603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561187 S 6533 0 1 "" MS24873 nsv508060 1 214706506 214712506 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624230,nssv621487,nssv622304 M 4 0 3 "" NA10860,NA15510,NA18994 nsv873178 1 214780937 214879867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598670 S 6533 0 1 ESRRG IS40890 nsv4565 1 214786693 214831676 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4969 S 9 0 1 ESRRG NA19129 nsv520098 1 214802761 214812222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697222 S 2026 0 1 ESRRG nsv468138 1 214802761 214828781 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543270 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESRRG HGDP00963 nsv508694 1 214967637 214990506 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620150 S 4 0 1 ESRRG NA15510 nsv512757 1 215018687 215019493 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625386 S 1 1 0 ESRRG 1 esv1607878 1 215019455 215019455 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768651 S 2 1 0 ESRRG HuRef nsv519715 1 215064778 215065087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687144,nssv673840,nssv662240,nssv657827,nssv684665,nssv677804,nssv681456,nssv681070,nssv673273,nssv693422,nssv691301,nssv680732,nssv681208,nssv662419 M 2026 0 14 ESRRG esv269200 1 215091452 215091537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516542 S 157 1 0 Samples from several populations that are part of the HapMap project. ESRRG NA12814 dgv529n71 1 215123516 215179494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873180,nsv873179 M 6533 0 2 ESRRG MS22109,MS22353 nsv520457 1 215168684 215169095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671621,nssv691640 M 2026 0 2 ESRRG nsv521019 1 215294739 215296297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679966,nssv682412 M 2026 0 2 ESRRG nsv160531 1 215336582 215336646 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179109 M 24 ESRRG nsv525040 1 215350496 215351932 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701084 S 2026 0 1 ESRRG nsv441737 1 215356748 215360951 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ESRRG nsv514044 1 215356784 215360160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628070 S 1414 0 1 ESRRG dgv59n27 1 215385218 215391277 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468172,nsv468160 M 1557 0 2 "" HGDP01013,HGDP01015 nsv4576 1 215402181 215433324 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10481 S 9 1 0 "" NA18956 esv9487 1 215420827 215420922 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31928 S 1 1 0 "" SJK esv2506381 1 215538198 215539047 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171119 S 1 1 0 "" NA18507 esv21944 1 215544081 215545855 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12566 S 451 0 1 "" NA19190 nsv832559 1 215545424 215722268 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441659,nssv1441660 M 95 0 2 GPATCH2 esv275295 1 215556383 215559733 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586140,essv2586141 M 1250 1 1 "" esv1001739 1 215563735 215563790 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574366 S 3 0 1 "" HuRef esv1753802 1 215563762 215563818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220711 S 2 0 1 "" HuRef esv22977 1 215609266 215609928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11365 S 451 0 2 "" NA11993,NA19114 esv271555 1 215615571 215615656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516714,essv2514875 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12234 nsv832570 1 215642604 215816541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441661 S 95 1 0 GPATCH2 esv2247209 1 215644074 215644510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630670 S 1 0 1 "" NA18507 nsv528685 1 215659568 215659893 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705328 S 2026 1 0 "" nsv826631 1 215669957 215670469 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434221 S 31 1 0 GPATCH2 NA18570 nsv832581 1 215701252 215854656 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441672,nssv1441662,nssv1441671,nssv1441664,nssv1441670,nssv1441665,nssv1441668,nssv1441669,nssv1441667,nssv1441666 M 95 9 1 GPATCH2 nsv873181 1 215785782 215913727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530320 S 6533 1 0 GPATCH2,SPATA17 MS10296 nsv873182 1 215793840 215886180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556544 S 6533 0 1 GPATCH2,SPATA17 MS22104 esv2572444 1 215820044 215821553 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351585 S 1 0 1 GPATCH2 NA18507 esv2015860 1 215820494 215821203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894103 S 1 0 1 GPATCH2 NA18507 esv3768 1 215820651 215821055 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26209 S 1 0 1 Single Asian sample YH GPATCH2 YH nsv159790 1 215820698 215821000 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178368 M 24 GPATCH2 esv8618 1 215820707 215821046 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31059 S 1 0 1 GPATCH2 SJK esv1658318 1 215820713 215821016 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632945 S 2 0 1 GPATCH2 HuRef esv274293 1 215893561 215893903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580946,essv2579643 M 7 2 0 Samples from several populations that are part of the HapMap project. SPATA17 NA19238,NA19240 esv268142 1 215893561 215893904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512581,essv2496795,essv2493189,essv2509678,essv2496208,essv2501157,essv2493595,essv2494830,essv2508930,essv2506181,essv2513327,essv2501310,essv2506692,essv2509595,essv2493566,essv2498866,essv2497041,essv2499800,essv2511990,essv2498080,essv2502045 M 157 21 0 Samples from several populations that are part of the HapMap project. SPATA17 NA18489,NA18498,NA18504,NA18508,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18907,NA19093,NA19108,NA19129,NA19137,NA19138,NA19190,NA19225,NA19238,NA19240,NA19257 nsv873183 1 215913727 215972442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505542 S 6533 0 1 SPATA17 SP53687 nsv873184 1 215918899 215955595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517717 S 6533 0 1 SPATA17 SP57367 nsv468183 1 215955595 215959513 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543314 S 1557 0 1 SPATA17 1780854017_A nsv873185 1 215961460 216032748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560455 S 6533 0 1 SPATA17 MS24487 nsv873186 1 215961460 216096039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590114 S 6533 0 1 SPATA17 IS38463 esv272605 1 215979984 215980182 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581001 S 7 1 0 Samples from several populations that are part of the HapMap project. SPATA17 NA19238 esv268852 1 215980106 215980399 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525826,essv2542299,essv2544018,essv2545683,essv2537347,essv2528494,essv2523615,essv2552786,essv2542737,essv2540479,essv2561064,essv2539688,essv2566216,essv2567865,essv2541556,essv2569936,essv2535827,essv2559281,essv2578441,essv2533504,essv2555789,essv2566466,essv2530106,essv2531384,essv2543042,essv2576954,essv2525673,essv2536201,essv2524842 M 157 29 0 Samples from several populations that are part of the HapMap project. SPATA17 NA06986,NA07357,NA11918,NA11919,NA11992,NA12003,NA12878,NA12891,NA18537,NA18542,NA18550,NA18552,NA18562,NA18563,NA18572,NA18577,NA18592,NA18593,NA18608,NA18638,NA18940,NA18944,NA18945,NA18948,NA18949,NA18961,NA18965,NA18970,NA18980 esv989721 1 215984137 215984449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572738 S 3 0 1 SPATA17 HuRef esv1474893 1 215984145 215984458 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674394 S 2 0 1 SPATA17 HuRef esv8865 1 215984147 215984450 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31306 S 1 0 1 SPATA17 SJK esv1000763 1 216040315 216043530 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563672 S 3 1 0 SPATA17 HuRef nsv873187 1 216049519 216315901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504076 S 6533 0 1 SPATA17 SP52175 esv272752 1 216068398 216068545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580621,essv2579479 M 7 2 0 Samples from several populations that are part of the HapMap project. SPATA17 NA19238,NA19240 esv269446 1 216068427 216068765 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557846,essv2576031,essv2521078,essv2522959,essv2543849,essv2523128,essv2531957,essv2548633,essv2521771,essv2534991,essv2553924,essv2552314,essv2558527,essv2564495,essv2553909,essv2530635,essv2528229,essv2539980,essv2551750,essv2544993,essv2540409,essv2565126,essv2519789,essv2577047,essv2536143,essv2537926,essv2549051,essv2533011,essv2554580,essv2563241 M 157 30 0 Samples from several populations that are part of the HapMap project. SPATA17 NA06986,NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11830,NA11894,NA11931,NA11992,NA12004,NA12006,NA12045,NA12144,NA12249,NA12287,NA12489,NA12750,NA12751,NA12763,NA12873,NA12891,NA18489,NA18504,NA18526,NA18552,NA18558,NA18566,NA18970 esv1410169 1 216068466 216068466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850118 S 2 1 0 SPATA17 HuRef nsv523504 1 216093200 216103440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699275 S 2026 0 1 SPATA17 nsv873188 1 216174787 216213478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560522 S 6533 0 1 "" MS24528 nsv506981 1 216232470 216238470 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623293,nssv620679,nssv619262,nssv617551 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv4587 1 216234605 216282164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3771,nssv9907,nssv6154,nssv1705,nssv11183 M 9 0 5 "" NA12156,NA12878,NA15510,NA18507,NA18555 nsv508695 1 216247326 216264374 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622787,nssv617411,nssv618999,nssv620151 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv135 1 216247751 216282164 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv135 S 1 0 1 "" NA15510 esv2451951 1 216248152 216255682 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348682 S 1 0 1 "" NA18507 nsv511731 1 216248295 216255960 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626375 S 1 0 1 "" 1 nsv435729 1 216248326 216257063 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465878 S 2 0 1 "" NA15510 esv2007662 1 216248911 216255430 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521431 S 1 0 1 "" NA18507 esv994047 1 216249004 216255496 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564206 S 3 0 1 "" HuRef esv2847 1 216249101 216255288 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25288 S 1 0 1 Single Asian sample YH "" YH nsv498710 1 216249111 216255232 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585425 S 9 0 1 "" esv8443 1 216249126 216255228 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30884 S 1 0 1 "" SJK esv33696 1 216263960 216270552 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100641 S 51 1 0 "" 21656 nsv8802 1 216268504 216273470 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23984 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv832592 1 216275677 216455326 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441673 S 95 1 0 "" nsv511732 1 216311803 216313150 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626376 S 1 0 1 "" 1 esv991053 1 216311910 216319383 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565633 S 3 0 1 "" HuRef esv9459 1 216312241 216313172 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31900 S 1 0 1 "" SJK esv1206785 1 216312261 216313122 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150269 S 2 0 1 "" HuRef nsv515726 1 216320435 216464203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658847,nssv664587 M 2026 0 2 "" dgv530n71 1 216330493 216394431 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873190,nsv873189 M 6533 0 2 "" IS35229,MS10204 nsv873191 1 216385998 216524850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544140 S 6533 1 0 "" MS16268 esv270862 1 216440081 216440402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496150,essv2509598 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA19129 nsv873192 1 216464203 216784365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525606 S 6533 1 0 RRP15,TGFB2 SP56728 esv35038 1 216484143 216490228 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980644,essv6987828 M 771 0 1 "" NA19240 esv25651 1 216484530 216488237 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12815 S 451 0 2 "" NA19108,NA19240 nsv441738 1 216484875 216489763 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514045 1 216485152 216488192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628081 S 1414 0 1 "" esv268565 1 216517374 216517459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514256 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv4598 1 216547772 216583054 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8107 S 9 0 1 RRP15 NA12156 nsv832603 1 216603976 216765332 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441675 S 95 1 0 TGFB2 nsv873193 1 216609934 216646608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530321 S 6533 1 0 TGFB2 MS10296 nsv4609 1 216719533 216752879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4970 S 9 1 0 "" NA19129 nsv826642 1 216736958 216737480 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425553 S 31 1 0 "" AK4 nsv528696 1 216755778 216772384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705341 S 2026 0 1 "" esv272878 1 216822530 216822874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580197,essv2580296 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv1089132 1 216838804 216838987 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106166 S 2 0 1 "" HuRef esv4179 1 216852508 216852951 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26620 S 1 0 1 Single Asian sample YH "" YH esv8778 1 216852558 216852867 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31219 S 1 0 1 "" SJK esv24370 1 216984203 216989392 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19851 S 451 0 1 "" NA19108 nsv832614 1 217126843 217303243 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441676 S 95 1 0 "" nsv873194 1 217140581 217179322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597681 S 6533 0 1 "" IS41292 nsv525059 1 217154788 217162005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701109 S 2026 0 1 "" nsv873195 1 217183026 217365162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530322 S 6533 1 0 LOC643723 MS10296 nsv873196 1 217210221 217255929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568419 S 6533 0 1 "" IS31285 nsv512758 1 217228006 217228467 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625387 S 1 1 0 "" 1 esv1220167 1 217228234 217228234 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319881 S 2 1 0 "" HuRef nsv826653 1 217236333 217238523 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423875 S 31 0 1 "" NA18968 esv268535 1 217240854 217240939 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514648 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 esv8114 1 217250764 217250835 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30555 S 1 1 0 "" SJK esv2605796 1 217258183 217259597 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267207 S 1 0 1 "" NA18507 dgv25n21 1 217417479 217434585 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520564,nsv527700 M 2026 0 2 LYPLAL1 nsv873197 1 217422412 217539373 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530323 S 6533 1 0 LYPLAL1 MS10296 nsv4620 1 217439664 217484422 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8111 S 9 0 1 LYPLAL1 NA12156 esv2187882 1 217499167 217499574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663197 S 1 0 1 "" NA18507 nsv873198 1 217617605 217668716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556519 S 6533 0 1 "" MS22103 esv272007 1 217625434 217625722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505095,essv2508030,essv2512220,essv2503373,essv2513035 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11995,NA12003,NA12155,NA12716 esv272782 1 217641277 217641430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580466 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv269128 1 217641278 217641587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517023,essv2518055,essv2516110,essv2516162,essv2515246 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12872,NA12873,NA12891,NA19238 nsv832625 1 217703664 217892621 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441677 S 95 0 1 "" esv2142917 1 217989751 217990457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4714937 S 1 0 1 "" NA18507 esv3789 1 217989899 217990338 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26230 S 1 0 1 Single Asian sample YH "" YH nsv160852 1 217989932 217990249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179430 M 24 "" esv8449 1 217989935 217990270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30890 S 1 0 1 "" SJK nsv160622 1 218140980 218140980 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179200 M 24 RNU5F-1 esv1008351 1 218144180 218144191 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564532 S 3 1 0 RNU5F-1 HuRef esv1506490 1 218144279 218144279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058295 S 2 1 0 RNU5F-1 HuRef esv2281071 1 218181236 218181737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4614613 S 1 0 1 RNU5F-1 NA18507 esv4170 1 218181418 218181638 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26611 S 1 0 1 Single Asian sample YH RNU5F-1 YH esv1609241 1 218181517 218181589 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977761 S 2 0 1 RNU5F-1 HuRef esv1356387 1 218200404 218200404 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996520 S 2 1 0 RNU5F-1 HuRef nsv832636 1 218206320 218360975 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441678 S 95 0 1 BPNT1,EPRS,IARS2,MIR194-1,MIR215,RNU5F-1 nsv819514 1 218208628 218208751 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418547 S 2 0 1 EPRS,RNU5F-1 AK1 esv9238 1 218252711 218252795 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31679 S 1 1 0 EPRS,RNU5F-1 SJK esv1351321 1 218252788 218252788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629226 S 2 1 0 EPRS,RNU5F-1 HuRef esv5550 1 218265230 218265307 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27991 S 1 1 0 EPRS,RNU5F-1 SJK nsv4632 1 218281492 218316817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv545 S 9 1 0 BPNT1,EPRS,RNU5F-1 NA19240 nsv826664 1 218288197 218291031 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433468,nssv1431125 M 31 0 2 RNU5F-1 AK18,NA18526 esv2360153 1 218292457 218292903 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931780 S 1 0 1 RNU5F-1 NA18507 esv3201 1 218292572 218292793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25642 S 1 0 1 Single Asian sample YH RNU5F-1 YH esv1103180 1 218292649 218292731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694799 S 2 0 1 RNU5F-1 HuRef esv2107700 1 218351874 218352535 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755934 S 1 0 1 IARS2,RNU5F-1 NA18507 esv6960 1 218457537 218457633 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29401 S 1 1 0 RAB3GAP2 SJK nsv4643 1 218464265 218508854 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1706 S 9 0 1 AURKAPS1,RAB3GAP2 NA18555 nsv826675 1 218503564 218506287 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435695 S 31 0 1 AURKAPS1,RAB3GAP2 NA18566 nsv826686 1 218506312 218507633 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435697 S 31 0 1 AURKAPS1,RAB3GAP2 NA18566 nsv523114 1 218552972 218567581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698813 S 2026 0 1 "" esv26061 1 218562011 218566191 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16878 S 451 0 2 "" NA18511,NA19257 dgv100n67 1 218569355 218570359 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826698,nsv826731 M 31 0 9 "" AK16,AK2,AK4,AK8,NA18526,NA18537,NA18542,NA18566,NA18968 dgv101n67 1 218569522 218570112 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826709,nsv826720 M 31 0 2 "" AK10,NA18592 esv29182 1 218569635 218570146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18796 S 451 0 4 "" NA06985,NA11993,NA12239,NA12489 esv1113399 1 218632422 218632422 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102975 S 2 1 0 "" HuRef esv1009136 1 218674186 218680069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564897 S 3 0 1 "" HuRef esv1360356 1 218706536 218706536 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307662 S 2 1 0 "" HuRef esv1050000 1 218715957 218715957 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652059 S 2 1 0 "" HuRef nsv508061 1 218767194 218773194 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622305,nssv618521,nssv621489,nssv624231 M 4 0 4 MARK1 CHM,NA10860,NA15510,NA18994 esv2470287 1 218815469 218816526 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310984 S 1 1 0 MARK1 NA18507 nsv468194 1 218912233 218952235 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543325 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf115 HGDP01214 nsv826742 1 218937427 218938256 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431867 S 31 0 1 C1orf115 AK20 nsv160470 1 218985638 218989402 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179048 M 24 MOSC2 nsv523389 1 218993467 219022635 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699139 S 2026 0 1 MOSC2 esv1008867 1 219053588 219066326 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565053 S 3 0 1 MOSC1 HuRef nsv819685 1 219119246 219120395 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419185 S 2 1 0 HLX AK1 nsv873199 1 219203295 219517840 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530324 S 6533 1 0 "" MS10296 nsv4654 1 219249599 219271037 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3781 S 9 1 0 "" NA12878 nsv159143 1 219281512 219282616 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177721 M 24 "" esv2471455 1 219537880 219539153 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220629 S 1 0 1 "" NA18507 esv274994 1 219579246 219586481 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585546,essv2586132 M 1250 1 1 "" nsv873200 1 219710803 219909814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512715 S 6533 0 1 "" SP55597 nsv826753 1 219740751 219741462 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432565,nssv1438040,nssv1424509,nssv1427305 M 31 0 4 "" AK8,NA18547,NA18947,NA18972 esv27858 1 219810579 219821045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11257 S 451 0 1 "" NA18517 nsv514046 1 219812672 219815952 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628092 S 1414 0 1 "" nsv441739 1 219812673 219820232 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421475 1 219812673 219820268 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5062931,essv5079922,essv5113214,essv5149420,essv5024601,essv5155138,essv5003763,essv5080351,essv5140419,essv5109738,essv5110020,essv5050109,essv5109712,essv5128804,essv5105416,essv5032309,essv5058130,essv5116307,essv5063058,essv5140339,essv5014821,essv5142349,essv5008432,essv5131192,essv5040880,essv5048687 M 1184 0 26 "" NA18515,NA18517,NA18520,NA18874,NA18875,NA19028,NA19096,NA19119,NA19160,NA19161,NA19201,NA19202,NA19221,NA19222,NA19248,NA19249,NA19377,NA19381,NA19382,NA19440,NA19661,NA19908,NA21573,NA21577,NA21600,NA21719 nsv506982 1 219821304 219827304 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619263,nssv623294 M 4 2 0 "" NA10860,NA18994 esv2551121 1 219856214 219857530 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244971 S 1 0 1 "" NA18507 esv25042 1 219870530 219872497 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13406 S 451 0 1 "" NA18505 esv1751713 1 219894444 219894444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200792 S 2 1 0 "" HuRef nsv469786 1 219922494 220106958 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649807 M 265 0 0 Samples from several populations that are part of the HapMap project. DUSP10 esv7152 1 219965534 219965618 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29593 S 1 1 0 DUSP10 SJK nsv873201 1 220023249 220074158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530325 S 6533 1 0 "" MS10296 esv269535 1 220035760 220036102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565710,essv2575846,essv2546331,essv2526093,essv2542417,essv2536769,essv2570864,essv2556620,essv2568263,essv2545285,essv2521828,essv2576697,essv2535295,essv2544434,essv2520713,essv2547531,essv2576426,essv2520074,essv2563939,essv2554982,essv2537565,essv2546724,essv2530493,essv2557321,essv2557220,essv2552345,essv2569260,essv2558790,essv2561694,essv2544591,essv2523604,essv2564937,essv2534957,essv2549238,essv2519683,essv2565935,essv2531137,essv2532572,essv2528751,essv2567465,essv2541771,essv2570171,essv2563680,essv2553369,essv2535555,essv2572419,essv2559069,essv2541998,essv2543629,essv2533918,essv2578274,essv2533714,essv2555705,essv2527549,essv2557619,essv2556125,essv2534369,essv2531386,essv2543063,essv2575368,essv2560781,essv2568699,essv2560462,essv2548131,essv2548933,essv2547850,essv2525201,essv2563343 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA07357,NA10847,NA11829,NA11830,NA11881,NA11918,NA11919,NA11920,NA11993,NA11994,NA11995,NA12003,NA12144,NA12154,NA12249,NA12414,NA12716,NA12717,NA12814,NA12815,NA12828,NA12872,NA12878,NA12892,NA18486,NA18499,NA18501,NA18502,NA18508,NA18516,NA18523,NA18526,NA18537,NA18558,NA18561,NA18564,NA18566,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18870,NA18916,NA18940,NA18944,NA18945,NA18952,NA18953,NA18956,NA18959,NA18961,NA18965,NA19102,NA19116,NA19147,NA19190,NA19210 esv273210 1 220035762 220036056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580212,essv2579948 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv2520781 1 220100374 220101943 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374871 S 1 0 1 "" NA18507 esv2194421 1 220100570 220101293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502486 S 1 0 1 "" NA18507 esv2858 1 220100699 220101140 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25299 S 1 0 1 Single Asian sample YH "" YH esv1254343 1 220100781 220101113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129587 S 2 0 1 "" HuRef nsv518321 1 220119857 220122026 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695751 S 2026 1 0 "" nsv4665 1 220153298 220187084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8123 S 9 1 0 "" NA12156 esv8316 1 220210533 220214227 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30757 S 1 0 0 "" SJK esv1009077 1 220243602 220246943 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563806 S 3 0 1 "" HuRef nsv4676 1 220260875 220295068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8131 S 9 1 0 "" NA12156 nsv832648 1 220299016 220451952 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441679 S 95 0 1 "" esv1009780 1 220330144 220330144 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574735 S 3 1 0 "" HuRef nsv160691 1 220330146 220330146 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179269 M 24 "" dgv180e1 1 220362590 220524936 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21029,essv408,essv17938,esv77,essv17497,essv23431 M 271 0 0 "" NA06991,NA10854,NA12003,NA12762,NA18971 esv274364 1 220362738 220363002 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580383,essv2580574 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238 nsv521614 1 220369770 220384264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698232 S 2026 0 1 "" esv2286357 1 220378264 220378681 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681004 S 1 0 1 "" NA18507 esv1226082 1 220378753 220378753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262628 S 2 1 0 "" HuRef esv1196079 1 220378912 220378912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092240 S 2 1 0 "" HuRef esv1007260 1 220391649 220397269 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565603 S 3 0 1 "" HuRef nsv873202 1 220399529 220471424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547363 S 6533 0 1 "" MS17359 nsv873203 1 220399529 220841623 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592585 S 6533 1 0 HHIPL2,TAF1A IS39243 nsv511146 1 220433231 220446861 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625821 S 1 0 1 "" 1 nsv508696 1 220434163 220464569 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620153 S 4 0 1 "" NA15510 nsv8813 1 220440440 220449978 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28203,nssv24907,nssv26707,nssv24897,nssv23392,nssv24278,nssv23071,nssv25957,nssv27847,nssv27151,nssv22085,nssv24004,nssv20750,nssv25178,nssv24900 M 31 13 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA18517,NA18537,NA18563,NA18853,NA18860,NA18942,NA18972,NA18975,NA19007,NA19132,NA19221,NA19240 nsv820720 1 220440446 220447282 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420958 S 1 0 1 "" NA10851 nsv826764 1 220440446 220447949 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440865,nssv1428071,nssv1423178,nssv1440174,nssv1426439,nssv1424792,nssv1429609,nssv1421503,nssv1431126,nssv1433470,nssv1430395,nssv1428868 M 31 0 12 "" AK10,AK12,AK14,AK16,AK18,AK2,AK6,NA18526,NA18564,NA18969,NA18997,NA18999 esv27165 1 220440566 220447122 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19109 S 451 15 3 "" NA06985,NA11894,NA11995,NA12239,NA12489,NA12749,NA12776,NA18505,NA18517,NA18523,NA18907,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240,NA19257 esv993430 1 220440566 220447122 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586727 S 3 1 0 "" HuRef nsv511733 1 220440678 220447775 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626378 S 1 0 1 "" 1 nsv819121 1 220441714 220447786 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419753 S 2 1 0 "" AK1 esv1010113 1 220442838 220445427 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586859 S 3 1 0 "" HuRef nsv826775 1 220442838 220445427 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439506 S 31 0 1 "" NA18537 esv2421948 1 220443401 220443721 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5089963,essv5122143,essv5044692,essv5132596,essv5077871,essv5034030,essv5113881,essv5091109,essv5127891,essv5015731,essv5079231,essv5160607,essv5074037,essv5116195,essv5033557,essv5017531,essv5002911,essv5144361,essv5132106,essv5035988,essv5115756,essv5109939,essv5149115,essv5032426,essv5130493,essv5114058,essv5106394,essv5050726,essv5129072,essv5155859,essv5128667,essv5143666,essv5027089,essv5120115,essv5156961,essv5050397,essv5024314,essv5076856,essv5069246,essv5159885,essv5135887,essv5092944,essv5148811,essv5034402,essv5009553,essv5126497,essv5112315,essv5022119,essv5108908,essv5053594,essv5052212,essv5016902,essv5057546,essv5031402,essv5061441,essv5021470,essv5122408,essv5130643,essv5059454,essv5052498,essv5011817,essv5010514,essv5018242,essv5124446,essv5052798,essv5121416,essv5012839,essv5158412,essv5068495,essv5096529,essv5037245,essv5028399,essv5010628,essv5050710,essv5087227,essv5142899,essv5061893,essv5025036,essv5152542,essv5075756,essv5142888,essv5107837,essv5128932,essv5037862,essv5083451,essv5055797,essv5072079,essv5076483,essv5078975,essv5066533,essv5031648,essv5045654,essv5156136,essv5038950,essv5095601,essv5088620,essv5147259,essv5124559,essv5072077,essv5091164,essv5128518,essv5088773,essv5138437,essv5024081,essv5044768,essv5028140,essv5060206,essv5046400,essv5144690,essv5021371,essv5003512,essv5084146,essv5119283,essv5012478,essv5154567,essv5146027,essv5030389,essv5004762,essv5085114,essv5138789,essv5035086,essv5078732,essv5060493,essv5133830,essv5076949,essv5054357,essv5112557,essv5038673,essv5136913,essv5051553,essv5116996,essv5054161,essv5003853,essv5042045,essv5053126,essv5052093,essv5005282,essv5103445,essv5002874,essv5081141,essv5038535,essv5150812,essv5050169,essv5059421,essv5149767,essv5086437,essv5129882,essv5057654,essv5047712,essv5095220,essv5026026,essv5157556,essv5100477,essv5135002,essv5009556,essv5098913,essv5004044,essv5107708,essv5027522,essv5150167,essv5006630,essv5160482,essv5042584,essv5114553,essv5090934,essv5003428,essv5137862,essv5102523,essv5026833,essv5085332,essv5056809,essv5096486,essv5076954,essv5049496,essv5142996,essv5135023,essv5081086,essv5116697,essv5070520,essv5137165,essv5087539,essv5005145,essv5059841,essv5088805,essv5017012,essv5133862,essv5002765,essv5113533,essv5019996,essv5003719,essv5125347,essv5104731,essv5028273,essv5088893,essv5097352,essv5099957,essv5034912,essv5116153,essv5155031,essv5028117,essv5057111,essv5157915,essv5151403,essv5026598,essv5062020,essv5125744,essv5099212,essv5040921,essv5145183,essv5024492,essv5002053,essv5039132,essv5152795,essv5152252,essv5146649,essv5097552,essv5043605,essv5050540,essv5087848,essv5074825,essv5103924,essv5081630,essv5099399,essv5063051,essv5119252,essv5060360,essv5119545,essv5103615,essv5155594,essv5075881,essv5082930,essv5030835,essv5073397,essv5075411,essv5098556,essv5113833,essv5100263,essv5100692,essv5028105,essv5145102,essv5075304,essv5032026,essv5122798,essv5150956,essv5022745,essv5090490,essv5050240,essv5045572,essv5146062,essv5048486,essv5142460,essv5047172,essv5158341,essv5070700,essv5071659,essv5078422,essv5136442,essv5083967,essv5118707,essv5158153,essv5070064,essv5002524,essv5124727,essv5023427,essv5027202,essv5023511,essv5097377,essv5116548,essv5131450,essv5072888,essv5084622,essv5016114,essv5067942,essv5150266,essv5058556,essv5009993,essv5135449,essv5019426,essv5086672,essv5057634,essv5156826,essv5084061,essv5055220,essv5019725,essv5060863,essv5027135,essv5052757,essv5134653,essv5051073,essv5058286,essv5023893,essv5147954,essv5124632,essv5038508,essv5010317,essv5077890,essv5009417,essv5140241,essv5067007,essv5036338,essv5120299,essv5045973,essv5136351,essv5119474,essv5110528,essv5010950,essv5096964,essv5052433,essv5007006,essv5048195,essv5044410,essv5111588,essv5063869,essv5157208,essv5071257,essv5118487,essv5142028,essv5043406,essv5029869,essv5002903,essv5045818,essv5122993,essv5125334,essv5024450,essv5121531,essv5007941,essv5098841,essv5056614,essv5126471,essv5139820,essv5064570,essv5160692,essv5104319,essv5106836,essv5138037,essv5085284,essv5138575,essv5047492,essv5065658,essv5122871,essv5081560,essv5050344,essv5117079,essv5142924,essv5009866,essv5107564,essv5143635,essv5136530,essv5154598,essv5002436,essv5133113,essv5158024,essv5016725,essv5073277,essv5112977,essv5131827,essv5010214,essv5100458,essv5109035,essv5096362,essv5105746,essv5151776,essv5022009,essv5091743,essv5054463,essv5151250,essv5051403,essv5079943,essv5015537,essv5138722,essv5123011,essv5040786,essv5112441,essv5019993,essv5080613,essv5069561,essv5074742,essv5123949,essv5155075,essv5099145,essv5130429,essv5103940,essv5117135,essv5027585,essv5091433,essv5097348,essv5127745,essv5056230,essv5074341,essv5085916,essv5069001,essv5023465,essv5044234,essv5052170,essv5070658,essv5112443,essv5107161,essv5011826,essv5010932,essv5133890,essv5159633,essv5051026,essv5119864,essv5122069,essv5048998,essv5129403,essv5137276,essv5050131,essv5048546,essv5159380,essv5106225,essv5015466,essv5045868,essv5059116,essv5135485,essv5132468,essv5009381,essv5072004,essv5065889,essv5084725,essv5016110,essv5056092,essv5051570,essv5004206,essv5150871,essv5059446,essv5061648,essv5081790,essv5020366,essv5103693,essv5019708,essv5020889,essv5104537,essv5097343,essv5096734,essv5110170,essv5091458,essv5018036,essv5122393,essv5138923,essv5135072,essv5076601,essv5084104,essv5112953,essv5089911,essv5008032,essv5011711,essv5075268,essv5024589,essv5070412,essv5075294,essv5016852,essv5004970,essv5160283,essv5021212,essv5109103,essv5134105,essv5016449,essv5160227,essv5021749,essv5152301,essv5075928,essv5152382,essv5112330,essv5141475,essv5057404,essv5160750,essv5110807,essv5123745,essv5010793,essv5012570,essv5122744,essv5149830,essv5155214,essv5153525,essv5121229,essv5158351,essv5064930,essv5157061,essv5159706,essv5139614,essv5159019,essv5126576,essv5067100,essv5054459,essv5130938,essv5054055,essv5127987,essv5083818,essv5152370,essv5147703,essv5088812,essv5002993,essv5091267,essv5148325,essv5132704,essv5019999,essv5076194,essv5130047,essv5032979,essv5127001,essv5006083,essv5072717,essv5089543,essv5085616,essv5114219,essv5001964,essv5060538,essv5009851,essv5101331,essv5121367,essv5073329,essv5027977,essv5143165,essv5006532,essv5020840,essv5019143,essv5127131,essv5137461,essv5135061,essv5119258,essv5147416,essv5103303,essv5051594,essv5122827,essv5145892,essv5044489,essv5082771,essv5131890,essv5048355,essv5154616,essv5028839,essv5018949,essv5009451,essv5034485,essv5118910,essv5105243,essv5088361,essv5079222,essv5003155,essv5048267 M 1184 0 541 "" NA06984,NA06989,NA06994,NA06995,NA07000,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07345,NA07346,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10845,NA10847,NA10850,NA10852,NA10855,NA10859,NA10863,NA11831,NA11832,NA11882,NA11892,NA11917,NA11919,NA11931,NA11992,NA11993,NA11994,NA12003,NA12005,NA12006,NA12044,NA12045,NA12057,NA12144,NA12145,NA12154,NA12155,NA12234,NA12239,NA12248,NA12272,NA12275,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12375,NA12376,NA12383,NA12399,NA12546,NA12707,NA12716,NA12740,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12767,NA12778,NA12801,NA12802,NA12813,NA12814,NA12828,NA12832,NA12842,NA12843,NA12865,NA12873,NA12874,NA12878,NA12889,NA12891,NA12892,NA17965,NA17970,NA17972,NA17974,NA17975,NA17976,NA17982,NA17988,NA17989,NA17996,NA17998,NA18102,NA18117,NA18125,NA18131,NA18140,NA18147,NA18148,NA18150,NA18154,NA18157,NA18158,NA18160,NA18162,NA18484,NA18486,NA18497,NA18498,NA18500,NA18503,NA18504,NA18507,NA18509,NA18511,NA18516,NA18518,NA18520,NA18529,NA18532,NA18536,NA18537,NA18543,NA18546,NA18555,NA18559,NA18561,NA18564,NA18571,NA18576,NA18577,NA18579,NA18594,NA18596,NA18602,NA18609,NA18610,NA18615,NA18617,NA18631,NA18639,NA18640,NA18642,NA18645,NA18647,NA18674,NA18694,NA18702,NA18704,NA18745,NA18747,NA18748,NA18857,NA18858,NA18863,NA18868,NA18871,NA18872,NA18909,NA18911,NA18912,NA18916,NA18917,NA18923,NA18925,NA18930,NA18939,NA18948,NA18952,NA18953,NA18969,NA18977,NA18978,NA18990,NA18995,NA18997,NA18998,NA18999,NA19001,NA19002,NA19027,NA19036,NA19038,NA19054,NA19056,NA19058,NA19065,NA19068,NA19072,NA19083,NA19087,NA19088,NA19095,NA19096,NA19097,NA19101,NA19116,NA19117,NA19122,NA19123,NA19128,NA19129,NA19140,NA19141,NA19143,NA19146,NA19149,NA19150,NA19151,NA19159,NA19161,NA19176,NA19179,NA19180,NA19181,NA19183,NA19190,NA19192,NA19193,NA19194,NA19197,NA19200,NA19204,NA19207,NA19209,NA19211,NA19224,NA19226,NA19236,NA19238,NA19247,NA19249,NA19257,NA19258,NA19309,NA19311,NA19313,NA19314,NA19315,NA19317,NA19327,NA19347,NA19352,NA19373,NA19375,NA19376,NA19377,NA19380,NA19382,NA19383,NA19385,NA19390,NA19391,NA19393,NA19398,NA19399,NA19428,NA19429,NA19431,NA19435,NA19438,NA19439,NA19440,NA19444,NA19452,NA19456,NA19466,NA19467,NA19469,NA19471,NA19473,NA19474,NA19649,NA19650,NA19651,NA19656,NA19660,NA19675,NA19678,NA19684,NA19686,NA19703,NA19705,NA19712,NA19716,NA19718,NA19723,NA19724,NA19725,NA19746,NA19759,NA19760,NA19761,NA19762,NA19763,NA19771,NA19772,NA19773,NA19777,NA19779,NA19780,NA19782,NA19784,NA19795,NA19796,NA19900,NA19901,NA19904,NA19908,NA19916,NA19918,NA19919,NA19982,NA19983,NA20126,NA20128,NA20129,NA20279,NA20281,NA20282,NA20284,NA20297,NA20300,NA20301,NA20302,NA20317,NA20349,NA20356,NA20357,NA20358,NA20359,NA20504,NA20505,NA20506,NA20508,NA20509,NA20512,NA20518,NA20519,NA20522,NA20524,NA20525,NA20527,NA20528,NA20530,NA20531,NA20534,NA20535,NA20538,NA20541,NA20542,NA20543,NA20586,NA20588,NA20756,NA20758,NA20759,NA20765,NA20766,NA20768,NA20770,NA20771,NA20772,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20797,NA20801,NA20803,NA20805,NA20807,NA20808,NA20809,NA20810,NA20811,NA20815,NA20826,NA20828,NA20851,NA20856,NA20859,NA20870,NA20872,NA20873,NA20874,NA20875,NA20876,NA20879,NA20881,NA20883,NA20884,NA20885,NA20888,NA20889,NA20890,NA20891,NA20892,NA20896,NA20899,NA20901,NA20902,NA20903,NA20907,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21098,NA21104,NA21105,NA21107,NA21109,NA21112,NA21113,NA21116,NA21118,NA21119,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21336,NA21339,NA21344,NA21352,NA21353,NA21356,NA21357,NA21359,NA21363,NA21365,NA21366,NA21368,NA21379,NA21382,NA21384,NA21385,NA21386,NA21388,NA21389,NA21390,NA21402,NA21403,NA21404,NA21405,NA21414,NA21415,NA21417,NA21420,NA21434,NA21435,NA21440,NA21448,NA21453,NA21473,NA21475,NA21477,NA21478,NA21479,NA21486,NA21487,NA21488,NA21489,NA21491,NA21494,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21522,NA21524,NA21525,NA21526,NA21527,NA21529,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21608,NA21613,NA21614,NA21615,NA21616,NA21617,NA21631,NA21632,NA21634,NA21636,NA21647,NA21648,NA21678,NA21685,NA21686,NA21693,NA21716,NA21722,NA21740,NA21741,NA21768,NA21784,NA21825 nsv8824 1 220450960 220456508 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27281,nssv22754 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA18552 nsv873204 1 220551368 220677833 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551019 S 6533 0 1 "" MS18742 nsv826786 1 220599026 220635453 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431127 S 31 0 1 "" AK18 nsv826797 1 220615996 220617850 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431868 S 31 0 1 "" AK20 nsv511734 1 220616030 220617911 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626379 S 1 0 1 "" 1 esv272436 1 220645708 220645793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581272 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv25737 1 220705662 220760196 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17973 S 451 1 0 "" NA18502 nsv873205 1 220785341 220989974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577850 S 6533 0 1 AIDA,BROX,FAM177B,HHIPL2,MIA3,TAF1A IS34599 esv2395464 1 220838249 220838579 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552734 S 1 0 1 "" NA18507 esv2603048 1 220879265 220880755 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289036 S 1 0 1 MIA3 NA18507 esv270291 1 220919213 220919298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515701 S 157 1 0 Samples from several populations that are part of the HapMap project. AIDA NA12815 esv271687 1 220937284 220937623 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516971,essv2518728,essv2515430,essv2516497,essv2517963,essv2516029,essv2514383,essv2517586,essv2513623 M 157 9 0 Samples from several populations that are part of the HapMap project. AIDA NA07347,NA11931,NA12045,NA12249,NA12814,NA12872,NA12873,NA12874,NA12878 esv272318 1 220937284 220937623 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581411 S 7 1 0 Samples from several populations that are part of the HapMap project. AIDA NA12878 esv1787433 1 220937320 220937320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102427 S 2 1 0 AIDA HuRef esv2210399 1 221008258 221008678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546903 S 1 0 1 "" NA18507 nsv873206 1 221051820 221191539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598105 S 6533 0 1 DISP1 IS41317 nsv442589 1 221083948 221090227 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DISP1 esv5267 1 221127388 221127839 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27708 S 1 0 1 Single Asian sample YH DISP1 YH esv998735 1 221127444 221127762 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569934 S 3 0 1 DISP1 HuRef nsv873207 1 221145425 221359255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522500 S 6533 0 1 DISP1,TLR5 SP53184 esv991453 1 221191432 221191432 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581682 S 3 1 0 DISP1 HuRef esv1553806 1 221191435 221191435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673687 S 2 1 0 DISP1 HuRef esv1971876 1 221271179 221271607 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661119 S 1 0 1 "" NA18507 esv993625 1 221271322 221271400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571180 S 3 0 1 "" HuRef nsv159885 1 221271323 221271401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178463 M 24 "" esv1187112 1 221271399 221271478 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764817 S 2 0 1 "" HuRef esv9499 1 221304830 221304913 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31940 S 1 1 0 "" SJK esv1004280 1 221339898 221343726 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565324 S 3 0 1 "" HuRef esv1122523 1 221359946 221359946 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067091 S 2 1 0 TLR5 HuRef nsv832659 1 221361390 221505110 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441680 S 95 1 0 SUSD4,TLR5 nsv516810 1 221534959 221535355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674189,nssv692956,nssv659350,nssv671082 M 2026 4 0 SUSD4 nsv518979 1 221534959 221554933 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696446 S 2026 1 0 SUSD4 nsv826809 1 221602655 221605288 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432576 S 31 1 0 SUSD4 NA18972 nsv832670 1 221628394 221750004 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441681 S 95 0 1 C1orf65 nsv4687 1 221631703 221676985 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4989 S 9 0 1 C1orf65 NA19129 nsv517708 1 221633890 221634426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684089,nssv663272,nssv658315,nssv679393,nssv656191,nssv669588,nssv683331,nssv656875,nssv687388,nssv652917,nssv674072,nssv671037,nssv680691,nssv662997,nssv676838,nssv681071,nssv674673,nssv677711,nssv660426,nssv657651,nssv688017,nssv654747,nssv656993 M 2026 0 23 C1orf65 nsv873208 1 221670432 221706092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530326 S 6533 1 0 "" MS10296 nsv818822 1 221681361 221698668 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417824 S 112 1 0 "" NA18852 nsv518381 1 221685390 221711879 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695812 S 2026 1 0 "" esv259948 1 221693423 221708917 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394488 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19257 esv26987 1 221693527 221708769 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20135 S 451 1 0 "" NA19257 dgv181e1 1 221694997 221711029 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1365,essv9308 M 271 0 0 "" NA18852 nsv521539 1 221695053 221708063 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698155 S 2026 1 0 "" nsv520420 1 221748674 221759785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697405 S 2026 0 1 "" nsv832681 1 221764671 222069314 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441682 S 95 1 0 CAPN2,CAPN8,TP53BP2 dgv531n71 1 221774270 221934254 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873211,nsv873210,nsv873209 M 6533 4 0 CAPN8 SP50828,SP52921,SP54862,SP57534 nsv873212 1 221873885 221920415 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509689 S 6533 1 0 CAPN8 SP54937 esv1919956 1 221889807 221890233 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841130 S 1 0 1 CAPN8 NA18507 esv27704 1 221889829 221891318 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18764 S 451 0 5 CAPN8 NA18909,NA19129,NA19147,NA19190,NA19240 nsv821216 1 221889829 221891318 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420969 S 1 0 1 CAPN8 NA10851 esv1388923 1 221890741 221891105 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178746 S 2 0 1 CAPN8 HuRef esv34082 1 221917641 222211132 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CAPN2,CAPN8,TP53BP2 nsv873213 1 221952466 221990859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583496 S 6533 1 0 CAPN2 IS36519 nsv437346 1 221970404 221972155 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467227 S 60 0 1 Samples from several populations that are part of the HapMap project. CAPN2 NA10856 esv274539 1 221978157 221978487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580211,essv2579839 M 7 2 0 Samples from several populations that are part of the HapMap project. CAPN2 NA12878,NA12892 esv271309 1 221978163 221978502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546624,essv2536670,essv2570796,essv2548228,essv2521702,essv2554200,essv2529112,essv2553643,essv2559651,essv2555162,essv2520763,essv2556825,essv2551879,essv2562701,essv2578764,essv2550142,essv2558884,essv2539092,essv2569781,essv2561402,essv2552824,essv2538385,essv2540302,essv2519675,essv2522230,essv2531031,essv2528954,essv2563894,essv2559115,essv2566995,essv2541915,essv2550936,essv2569008,essv2556234,essv2528034,essv2578383,essv2566571,essv2555847,essv2522361,essv2531382,essv2573389,essv2573295,essv2575417,essv2538627,essv2526687,essv2560533,essv2560325,essv2549781,essv2571149,essv2545881,essv2551400 M 157 51 0 Samples from several populations that are part of the HapMap project. CAPN2 NA11881,NA11920,NA11993,NA12045,NA12144,NA12287,NA12749,NA12763,NA12776,NA12872,NA18498,NA18501,NA18504,NA18507,NA18510,NA18511,NA18516,NA18519,NA18520,NA18523,NA18542,NA18547,NA18552,NA18566,NA18571,NA18573,NA18579,NA18603,NA18638,NA18853,NA18856,NA18858,NA18861,NA18871,NA18907,NA18940,NA18948,NA18956,NA18960,NA18961,NA18964,NA18969,NA19099,NA19108,NA19114,NA19116,NA19190,NA19225,NA19238,NA19239,NA19257 nsv520609 1 221998034 222013704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673218,nssv675983 M 2026 0 2 CAPN2 nsv521758 1 221998034 222020703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694525 S 2026 0 1 CAPN2 essv335 1 222001843 222191253 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CAPN2,TP53BP2 NA18971 dgv182e1 1 222001843 222429786 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7162,essv19189,esv71,essv19437,essv2059 M 271 0 0 CAPN2,FBXO28,TP53BP2 NA11840,NA12865,NA18547,NA18949 nsv4698 1 222024832 222041844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3790 S 9 1 0 CAPN2,TP53BP2 NA12878 nsv522556 1 222128521 222142106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705938 S 2026 0 1 "" esv24862 1 222141222 222246574 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17562,esv17549,esv15701 M 451 2 9 "" NA11894,NA12006,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18858,NA19114,NA19225 nsv873214 1 222142106 222232955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534259 S 6533 1 0 "" MS11497 dgv532n71 1 222142106 222296930 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873215,nsv873216 M 6533 2 0 "" IS39243,IS41043 nsv8835 1 222142925 222163089 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22090,nssv23688 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA18502 dgv533n71 1 222156006 222290282 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873220,nsv873218,nsv873217,nsv873219 M 6533 6 0 "" IS30537,IS31118,IS31169,IS34962,IS35196,SP56832 nsv873221 1 222181920 222250222 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513754 S 6533 1 0 "" SP55842 esv1065015 1 222191384 222191482 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266736 S 2 0 1 "" HuRef essv6404 1 222248219 222429786 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FBXO28 NA18572 esv2457419 1 222250899 222268596 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359724 S 1 1 0 "" NA18507 nsv821379 1 222265979 222271108 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420980 S 1 1 0 "" NA10851 esv27353 1 222265979 222307937 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16231,esv11310 M 451 1 9 "" NA12287,NA12489,NA12776,NA12828,NA18508,NA18907,NA18909,NA18916,NA19129,NA19147 nsv511735 1 222266476 222268388 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626380 S 1 0 1 "" 1 esv6246 1 222267851 222270356 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28687 S 1 0 1 "" SJK nsv832692 1 222273159 222474340 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441683 S 95 1 0 DEGS1,FBXO28 esv272907 1 222308039 222308152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579094 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267797 1 222308052 222308175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546574,essv2536435,essv2522806,essv2544172,essv2571059,essv2521854,essv2544500,essv2552261,essv2520621,essv2547607,essv2553594,essv2552340,essv2532069,essv2550168,essv2558722,essv2536897,essv2538994,essv2527110,essv2563042,essv2523941,essv2553078,essv2565063,essv2561221,essv2549267,essv2559827,essv2521985,essv2532567,essv2541576,essv2570004,essv2572329,essv2559156,essv2551029,essv2568953,essv2556434,essv2528009,essv2534062,essv2573163,essv2533792,essv2555513,essv2567065,essv2543388,essv2571900,essv2525824,essv2526877,essv2529468,essv2575443,essv2575064,essv2526689,essv2523946,essv2574595,essv2572836,essv2545203,essv2571455,essv2546127,essv2538163,essv2548735,essv2525142 M 157 57 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA11881,NA11920,NA11931,NA11992,NA11993,NA12144,NA12414,NA12489,NA12716,NA12717,NA12763,NA18502,NA18505,NA18511,NA18516,NA18517,NA18519,NA18522,NA18532,NA18537,NA18542,NA18558,NA18562,NA18564,NA18570,NA18571,NA18576,NA18592,NA18593,NA18609,NA18638,NA18858,NA18861,NA18871,NA18907,NA18916,NA18942,NA18944,NA18945,NA18947,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19143,NA19172,NA19238,NA19239 nsv511736 1 222311932 222314677 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626381 S 1 0 1 "" 1 esv2434057 1 222313095 222314953 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347557 S 1 0 1 "" NA18507 esv1983369 1 222313532 222314351 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952108 S 1 0 1 "" NA18507 esv4353 1 222313691 222314299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26794 S 1 0 1 Single Asian sample YH "" YH esv2444088 1 222313737 222314212 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290476 S 1 0 1 "" NA18507 esv1449207 1 222313740 222314216 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983295 S 2 0 1 "" HuRef esv5612 1 222313742 222314207 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28053 S 1 0 1 "" SJK nsv160722 1 222320437 222320754 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179300 M 24 "" nsv8846 1 222329336 222331588 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22416,nssv27166,nssv20098,nssv24568,nssv22419,nssv22420,nssv22421,nssv27401,nssv25438 M 31 9 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA11830,NA12740,NA12802,NA12872,NA18517,NA19144,NA19173 nsv873222 1 222359521 222402045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518113 S 6533 0 1 FBXO28 SP57469 nsv8857 1 222426566 222449646 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28253 S 31 1 0 Samples from several populations that are part of the HapMap project. DEGS1 NA18972 nsv873223 1 222433855 222533740 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505107 S 6533 1 0 DEGS1,MIR320B2,NVL SP53048 nsv8868 1 222449646 222819154 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20428 S 31 0 1 Samples from several populations that are part of the HapMap project. CNIH4,MIR320B2,MIR4742,NVL,WDR26 NA19144 esv2083847 1 222459266 222459957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675526 S 1 0 1 "" NA18507 esv3940 1 222459417 222459859 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26381 S 1 0 1 Single Asian sample YH "" YH esv1008773 1 222459447 222459759 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572921 S 3 0 1 "" HuRef esv1385887 1 222459457 222459770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672426 S 2 0 1 "" HuRef nsv161004 1 222459458 222459770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179582 M 24 "" esv7156 1 222459462 222459756 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29597 S 1 0 1 "" SJK nsv469889 1 222506977 222700997 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649910 M 265 0 0 Samples from several populations that are part of the HapMap project. CNIH4,MIR320B2,MIR4742,NVL,WDR26 esv2328653 1 222531079 222531495 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753931 S 1 0 1 NVL NA18507 esv2508330 1 222632264 222633738 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167159 S 1 0 1 "" NA18507 nsv508062 1 222642817 222648817 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624232 S 4 0 1 WDR26 NA18994 nsv160255 1 222646692 222655996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178833 M 24 MIR4742,WDR26 esv2520695 1 222804777 222807690 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249082 S 1 0 1 "" NA18507 nsv873224 1 222813200 222861536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536421 S 6533 0 1 "" MS12780 esv274008 1 222843199 222843529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580887,essv2579032 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv268362 1 222843199 222843538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525932,essv2521025,essv2557482,essv2557155,essv2552481,essv2537085,essv2539152,essv2561733,essv2523838,essv2539806,essv2519881,essv2528767,essv2567328,essv2570091,essv2553482,essv2543482,essv2527804,essv2562360,essv2539448,essv2534103,essv2578243,essv2573071,essv2555778,essv2530079,essv2573886,essv2534248,essv2543041,essv2572113,essv2525796,essv2575263,essv2538618,essv2526518,essv2560548,essv2574872,essv2568734,essv2560286,essv2546056,essv2551208,essv2537748 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11918,NA18498,NA18499,NA18501,NA18502,NA18517,NA18519,NA18523,NA18537,NA18563,NA18566,NA18579,NA18582,NA18593,NA18605,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18945,NA18949,NA18951,NA18959,NA18965,NA18973,NA18980,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19190,NA19239,NA19257 dgv102n67 1 222882273 222884928 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826820,nsv826831 M 31 0 3 CNIH3 NA18552,NA18582,NA18969 esv26044 1 222926825 222927900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21093 S 451 0 2 CNIH3 NA12004,NA18517 nsv524125 1 222968677 223088483 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700003 S 2026 1 0 CNIH3 esv24936 1 222969324 222969927 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9894 S 451 1 0 CNIH3 NA18909 esv2023755 1 223005169 223005622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634849 S 1 0 1 "" NA18507 esv3875 1 223005256 223005503 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26316 S 1 0 1 Single Asian sample YH "" YH esv29331 1 223060217 223063223 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10566 S 451 0 3 "" NA18517,NA18861,NA19257 nsv527809 1 223112451 223115370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704303 S 2026 0 1 "" esv27952 1 223142151 223147714 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16888 S 451 0 1 "" NA18508 dgv183e1 1 223154547 223319897 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22342,esv489 M 271 0 0 DNAH14 NA06985 nsv873225 1 223228683 223440559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574243 S 6533 0 1 DNAH14 IS33533 nsv526708 1 223296489 223339871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703047 S 2026 0 1 DNAH14 esv2607015 1 223322773 223324385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282753 S 1 0 1 DNAH14 NA18507 esv2297381 1 223322970 223323627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606522 S 1 0 1 DNAH14 NA18507 esv4999 1 223323096 223323501 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27440 S 1 0 1 Single Asian sample YH DNAH14 YH esv7171 1 223323154 223323439 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29612 S 1 0 1 DNAH14 SJK esv2511976 1 223323155 223323424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186849 S 1 0 1 DNAH14 NA18507 esv1621884 1 223323168 223323438 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165386 S 2 0 1 DNAH14 HuRef esv1092506 1 223333129 223333183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013952 S 2 0 1 DNAH14 HuRef nsv524461 1 223370954 223414312 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700395 S 2026 1 0 DNAH14 nsv524233 1 223406864 223414312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700123 S 2026 0 1 DNAH14 esv2566088 1 223410409 223411840 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207134 S 1 0 1 DNAH14 NA18507 esv2367547 1 223410832 223411523 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519200 S 1 0 1 DNAH14 NA18507 esv996698 1 223411024 223411337 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574091 S 3 0 1 DNAH14 HuRef esv2552398 1 223411032 223411345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228729 S 1 0 1 DNAH14 NA18507 nsv873226 1 223414312 223622225 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530327 S 6533 1 0 DNAH14 MS10296 nsv832703 1 223442576 223586839 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441684 S 95 1 0 DNAH14 esv268106 1 223460179 223466222 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502336,essv2512454 M 157 2 0 Samples from several populations that are part of the HapMap project. DNAH14 NA12004,NA12043 dgv184e1 1 223471574 223593401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3201,essv12371,essv14545,essv1890,essv2975,essv17188,essv2611,essv6325,essv5590,essv1168,essv18608,essv7015,essv13651,essv2207,essv15096,essv24393,essv12309,essv16499,essv18418,essv5813,essv6131,essv19698,essv8095,essv4395,essv14272,essv7077,essv11278,essv13741,essv10095,essv4794,essv9647,essv11692,essv24862,essv5125,esv110,essv11165,essv17569,essv19274,essv23459,essv17837,essv11794,essv4296,essv12962,essv23908,essv15658,essv16224,essv15325,essv20019,essv17096,essv17712,essv15601,essv22510,essv18744,essv1464,essv14737,essv3417,essv23333,essv23817,essv457,essv18980,essv17985,essv5189,essv5314,essv3755,essv1108,essv2253,essv2689,essv9912,essv377,essv10784 M 271 0 0 DNAH14 NA07000,NA07034,NA07048,NA10831,NA10838,NA11882,NA12003,NA12005,NA12234,NA12249,NA12264,NA12707,NA12750,NA12762,NA12763,NA12814,NA12872,NA12874,NA18504,NA18523,NA18529,NA18532,NA18537,NA18563,NA18566,NA18573,NA18577,NA18603,NA18609,NA18611,NA18612,NA18620,NA18859,NA18862,NA18912,NA18944,NA18945,NA18951,NA18952,NA18960,NA18961,NA18964,NA18966,NA18967,NA18971,NA18974,NA18976,NA18981,NA18990,NA19127,NA19129,NA19130,NA19137,NA19138,NA19141,NA19145,NA19153,NA19154,NA19159,NA19161,NA19171,NA19172,NA19194,NA19202,NA19204,NA19206,NA19210,NA19211,NA19238 nsv428312 1 223471574 223593401 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452997,nssv453008 M 62 2 0 DNAH14 HGDP00984,NA19108 nsv521527 1 223530395 223532767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698144 S 2026 0 1 DNAH14 esv1357490 1 223589680 223589680 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104530 S 2 1 0 DNAH14 HuRef esv1332453 1 223590161 223590161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997184 S 2 1 0 DNAH14 HuRef esv270005 1 223627222 223627307 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517162 S 157 1 0 Samples from several populations that are part of the HapMap project. DNAH14 hapmap_pooled_sample_set nsv832714 1 223658956 223872019 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441686 S 95 0 1 ENAH,LBR esv34905 1 223698027 223743205 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979748,essv6990403 M 771 1 0 ENAH NA18621 nsv873227 1 223723011 223754604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503979,nssv1513538 M 6533 2 0 ENAH SP52147,SP55795 nsv8880 1 223723031 223754333 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25458,nssv26861 M 31 2 0 Samples from several populations that are part of the HapMap project. ENAH NA18564,NA18942 nsv826842 1 223724685 223753209 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440175 S 31 1 0 ENAH NA18564 nsv441740 1 223725840 223750819 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ENAH nsv4709 1 223731617 223734100 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1726 S 9 1 0 "" NA18555 nsv433350 1 223731907 223752648 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463231 S 9 1 0 Samples from several populations that are part of the HapMap project. ENAH NA18555 dgv534n71 1 223731907 223754604 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873230,nsv873229,nsv873228 M 6533 3 0 ENAH SP54768,SP56350,SP56373 dgv185e1 1 223732317 223758122 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6069,essv4332,essv5865 M 271 0 0 ENAH NA18555,NA18564,NA18621 dgv186e1 1 223732317 223770108 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1408,essv7250 M 271 0 0 ENAH NA18635 nsv4720 1 223739841 223784632 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8149 S 9 0 1 ENAH NA12156 nsv826853 1 223739859 223740572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428072,nssv1435518,nssv1431128,nssv1438051,nssv1440867,nssv1440176,nssv1437989,nssv1429610,nssv1433471,nssv1437268,nssv1434222,nssv1439508,nssv1428869 M 31 13 0 "" AK10,AK12,AK14,AK18,NA18526,NA18537,NA18547,NA18564,NA18570,NA18592,NA18949,NA18951,NA18969 nsv821259 1 223740078 223740572 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420991 S 1 0 1 "" NA10851 nsv826864 1 223740078 223740572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436389,nssv1427306,nssv1434906 M 31 3 0 "" AK8,NA18542,NA18942 nsv4731 1 223746768 223748078 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1735 S 9 1 0 ENAH NA18555 nsv832725 1 223793621 223976744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441687 S 95 1 0 ENAH nsv511737 1 223826556 223829694 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626382 S 1 0 1 ENAH 1 esv2621711 1 223828176 223829723 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269397 S 1 0 1 ENAH NA18507 esv1963994 1 223828768 223829440 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939628 S 1 0 1 ENAH NA18507 esv4193 1 223828886 223829340 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26634 S 1 0 1 Single Asian sample YH ENAH YH esv7564 1 223828943 223829313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30005 S 1 0 1 ENAH SJK esv1034120 1 223828944 223829262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928300 S 2 0 1 ENAH HuRef nsv832736 1 223882340 224035242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441688 S 95 0 1 ENAH,SRP9 nsv160519 1 223971795 223971795 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179097 M 24 "" nsv525391 1 223979243 223995161 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701514 S 2026 1 0 "" nsv524126 1 224040400 224277276 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700004 S 2026 1 0 C1orf55,EPHX1,LEFTY1,LEFTY2,PYCR2,SRP9,TMEM63A esv1483803 1 224059167 224059227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818631 S 2 0 1 "" HuRef esv270073 1 224063026 224063352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558198,essv2540841,essv2571837,essv2546426,essv2570978,essv2577436,essv2548282,essv2521684,essv2550796,essv2550371,essv2535129,essv2554075,essv2544447,essv2520410,essv2558276,essv2565557,essv2576246,essv2564295,essv2530882,essv2562003,essv2537664,essv2528399,essv2538927,essv2541385,essv2542747,essv2524679,essv2534748,essv2561195,essv2539661,essv2549364,essv2519709,essv2560113,essv2521988,essv2566122,essv2528816,essv2567395,essv2569967,essv2563570,essv2553303,essv2559022,essv2578487,essv2555582,essv2529844,essv2573800,essv2527718,essv2555825,essv2534400,essv2531279,essv2573621,essv2543175,essv2572112,essv2525567,essv2526506,essv2545863,essv2574423,essv2535928,essv2548874,essv2533109,essv2554762,essv2548001,essv2525182,essv2563322 M 157 62 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11881,NA11993,NA12043,NA12045,NA12144,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12750,NA12812,NA12814,NA12828,NA12873,NA12874,NA12878,NA12891,NA18519,NA18545,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18579,NA18582,NA18593,NA18603,NA18605,NA18638,NA18940,NA18945,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19114,NA19239,NA19240 esv273896 1 224063029 224063353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582011,essv2582282,essv2584718,essv2583638 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv7173 1 224069389 224069889 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29614 S 1 0 1 EPHX1 SJK nsv159413 1 224073389 224073567 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177991 M 24 EPHX1 esv1580917 1 224073401 224073580 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587848 S 2 0 1 EPHX1 HuRef nsv873231 1 224086276 224201094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543367 S 6533 0 1 EPHX1,LEFTY1,LEFTY2,PYCR2,TMEM63A MS16153 nsv520628 1 224093029 224159985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674868,nssv673330,nssv685769,nssv694659,nssv697156 M 2026 0 5 EPHX1,LEFTY1,TMEM63A nsv160017 1 224124005 224127026 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178595 M 24 TMEM63A esv1480815 1 224218889 224218889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812865 S 2 1 0 "" HuRef nsv832747 1 224260766 224440038 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441689 S 95 1 0 ACBD3,H3F3A,LOC440926 dgv103n67 1 224264326 224266883 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826875,nsv826886 M 31 0 2 "" NA18949,NA18997 nsv523155 1 224301506 224306453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698864 S 2026 0 1 "" nsv524575 1 224301506 224309395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700531 S 2026 0 1 "" nsv873232 1 224309395 224441890 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535908 S 6533 1 0 ACBD3,H3F3A,LOC440926 MS12544 nsv832759 1 224370383 224570793 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441690 S 95 0 1 ACBD3,LIN9,MIXL1 nsv819122 1 224413180 224417019 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419580 S 2 0 1 ACBD3 AK1 nsv826897 1 224424172 224427106 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435629 S 31 0 1 ACBD3 NA18592 esv2591433 1 224439462 224439470 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227147 S 1 1 0 ACBD3 NA18507 nsv517107 1 224441890 224575268 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679636,nssv674845,nssv660071,nssv670771,nssv692442,nssv656909,nssv705787,nssv661530,nssv670703,nssv689961,nssv653609,nssv655350,nssv668445,nssv700478,nssv676350,nssv669419,nssv665773 M 2026 14 3 LIN9,MIXL1 esv28762 1 224442473 224450631 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20384 S 451 0 1 "" NA12004 nsv873233 1 224452246 224575268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577277 S 6533 0 1 LIN9,MIXL1 IS34407 nsv832770 1 224531753 224722135 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441691 S 95 0 1 LIN9,PARP1 nsv4744 1 224575921 224609381 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8156 S 9 1 0 "" NA12156 esv2085714 1 224610449 224610883 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789956 S 1 0 1 "" NA18507 nsv527874 1 224624501 224629402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704373 S 2026 0 1 PARP1 nsv832781 1 224637524 224817320 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441692 S 95 1 0 C1orf95,PARP1 nsv523247 1 224688401 224692900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698976 S 2026 0 1 "" nsv470779 1 224845055 224899927 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544414,nssv544415 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1orf95,ITPKB HGDP00288,HGDP00825 nsv873234 1 224846072 224926299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546470 S 6533 0 1 C1orf95,ITPKB MS17208 nsv522446 1 224852153 224990561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705805 S 2026 0 1 C1orf95,ITPKB nsv4755 1 224862958 224898231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3802 S 9 1 0 C1orf95,ITPKB NA12878 esv1105613 1 224877027 224877101 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322232 S 2 0 1 "" HuRef esv1647637 1 224877196 224877196 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257164 S 2 1 0 "" HuRef nsv873235 1 224885696 224918586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574993 S 6533 0 1 ITPKB IS33684 esv992736 1 224889563 224893769 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565601 S 3 0 1 ITPKB HuRef nsv516277 1 224891964 224899927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667279,nssv673552,nssv663808,nssv677712,nssv670946 M 2026 0 5 ITPKB nsv523759 1 224990128 224990561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699579 S 2026 0 1 ITPKB esv2582920 1 225051123 225052935 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323888 S 1 0 1 "" NA18507 esv989484 1 225052280 225052585 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569377 S 3 0 1 "" HuRef nsv160494 1 225052392 225052736 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179072 M 24 "" esv1018491 1 225052430 225052736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644759 S 2 0 1 "" HuRef esv268616 1 225065516 225065601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517327 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv4766 1 225092577 225137584 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8162 S 9 0 1 PSEN2 NA12156 esv274174 1 225157302 225157652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580555,essv2579268 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv268676 1 225157338 225157683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494923,essv2506021,essv2494096,essv2513548,essv2504832,essv2498973,essv2501893 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18520,NA18523,NA18871,NA18907,NA19099,NA19114,NA19239 dgv535n71 1 225185535 225247481 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873236,nsv873238,nsv873237 M 6533 0 3 ADCK3,CDC42BPA MS10311,MS17208,MS18276 nsv520923 1 225194241 225245571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682689,nssv677713,nssv700080 M 2026 0 3 ADCK3,CDC42BPA esv27984 1 225209574 225211649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18820 S 451 0 2 ADCK3 NA18511,NA18861 esv7588 1 225209694 225211388 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30029 S 1 0 1 ADCK3 SJK esv1025849 1 225209897 225209897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118291 S 2 1 0 ADCK3 HuRef esv1090769 1 225210349 225211383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616391 S 2 0 1 ADCK3 HuRef esv1004677 1 225230463 225230542 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576201 S 3 0 1 ADCK3 HuRef esv1389161 1 225230484 225230564 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801001 S 2 0 1 ADCK3 HuRef esv7871 1 225232787 225233164 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30312 S 1 0 1 ADCK3 SJK esv3257 1 225232825 225233388 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25698 S 1 0 1 Single Asian sample YH ADCK3 YH nsv832792 1 225278001 225431615 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441693 S 95 0 1 CDC42BPA dgv536n71 1 225288748 225427695 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873241,nsv873239,nsv873240 M 6533 0 3 CDC42BPA IS35100,IS39464,IS39900 nsv468227 1 225290359 225407413 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543356 S 1557 0 1 CDC42BPA NINDS_142 nsv522990 1 225356762 225369535 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698660 S 2026 0 1 CDC42BPA esv33574 1 225416271 225420813 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98914 S 51 0 1 CDC42BPA 21606 nsv873242 1 225438529 225645967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599605 S 6533 0 1 CDC42BPA IS41729 esv22606 1 225511652 225515889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10821 S 451 0 4 CDC42BPA NA18511,NA18517,NA18861,NA19108 nsv522490 1 225512631 225516767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705857 S 2026 0 1 CDC42BPA esv2476939 1 225518256 225519735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219140 S 1 0 1 CDC42BPA NA18507 esv2261733 1 225518480 225519152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911506 S 1 0 1 CDC42BPA NA18507 esv273315 1 225529533 225529640 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579124 S 7 1 0 Samples from several populations that are part of the HapMap project. CDC42BPA NA19239 esv268982 1 225529536 225529880 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543838,essv2570995,essv2568120,essv2545440,essv2576654,essv2550281,essv2554024,essv2520451,essv2559635,essv2520192,essv2554905,essv2552363,essv2562585,essv2550236,essv2558834,essv2536833,essv2539166,essv2527073,essv2561675,essv2544708,essv2523582,essv2552857,essv2541111,essv2524701,essv2564884,essv2549154,essv2519614,essv2559998,essv2565972,essv2531008,essv2532546,essv2568035,essv2528839,essv2541819,essv2570076,essv2563644,essv2535619,essv2559144,essv2541936,essv2568967,essv2543724,essv2527970,essv2562448,essv2539396,essv2578138,essv2555232,essv2567012,essv2534227,essv2522409,essv2531328,essv2573407,essv2576946,essv2571922,essv2525685,essv2529471,essv2575550,essv2538565,essv2526405,essv2574637,essv2568754,essv2545196,essv2560470,essv2571418,essv2546061,essv2574227,essv2551640,essv2547683,essv2524926,essv2563413 M 157 69 0 Samples from several populations that are part of the HapMap project. CDC42BPA NA07347,NA07357,NA10847,NA11992,NA11993,NA11995,NA12003,NA12154,NA12234,NA12287,NA12716,NA12776,NA12815,NA12872,NA18502,NA18507,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18555,NA18558,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18638,NA18856,NA18861,NA18870,NA18907,NA18909,NA18912,NA18940,NA18943,NA18947,NA18959,NA18960,NA18961,NA18964,NA18970,NA18973,NA18980,NA19093,NA19099,NA19108,NA19114,NA19138,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 nsv508063 1 225546801 225552801 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618522 S 4 0 1 CDC42BPA CHM esv1982712 1 225548686 225549411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807333 S 1 0 1 CDC42BPA NA18507 esv2628592 1 225548731 225550100 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355185 S 1 0 1 CDC42BPA NA18507 esv4979 1 225548834 225549414 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27420 S 1 0 1 Single Asian sample YH CDC42BPA YH esv2565209 1 225564988 225566475 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292433 S 1 0 1 CDC42BPA NA18507 esv274526 1 225568973 225569260 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578944 S 7 1 0 Samples from several populations that are part of the HapMap project. CDC42BPA NA19239 esv271501 1 225569041 225569252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507999,essv2505535,essv2512228,essv2503446,essv2496235,essv2501133,essv2494708,essv2506153,essv2507081,essv2507398,essv2501495,essv2506455,essv2498691,essv2497715,essv2510444,essv2496951,essv2512074,essv2501937,essv2498166,essv2502183,essv2513062 M 157 21 0 Samples from several populations that are part of the HapMap project. CDC42BPA NA10847,NA12003,NA12154,NA12155,NA12716,NA18511,NA18516,NA18519,NA18523,NA18870,NA18912,NA19093,NA19108,NA19138,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 nsv4777 1 225641963 225674742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4998 S 9 1 0 "" NA19129 nsv873243 1 225647640 225684142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530328 S 6533 1 0 "" MS10296 nsv523549 1 225662589 225662903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699327 S 2026 0 1 "" esv259953 1 225668643 225669010 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400048,essv2395287,essv2400768,essv2396686,essv2398270,essv2397281,essv2396942,essv2396315 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11918,NA12717,NA12750,NA12763,NA12878,NA12892,NA18558 esv259515 1 225668647 225668995 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394188,essv2393810 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv1475719 1 225668901 225668901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057778 S 2 1 0 "" HuRef nsv7190 1 225719939 225751123 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv574,nssv6181 M 9 0 0 "" NA12156,NA19240 esv1403387 1 225748162 225750091 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625539 S 2 0 0 "" HuRef nsv873244 1 225749037 225802986 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592587 S 6533 1 0 "" IS39243 nsv873245 1 225750482 225764004 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567891,nssv1588358 M 6533 2 0 "" IS31169,IS38183 nsv873246 1 225761571 225951088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530329 S 6533 1 0 ZNF678 MS10296 nsv873247 1 225764004 225802986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587599,nssv1538222 M 6533 0 2 "" IS38069,MS13538 nsv873248 1 225777004 225852656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531829 S 6533 1 0 ZNF678 MS10669 esv33212 1 225945903 225946228 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100064 S 51 0 1 "" 22086 esv32853 1 225946739 226872832 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99963 S 51 1 0 ARF1,C1orf35,DUSP5P,GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,JMJD4,LOC100130093,MIR3620,MIR4666,MRPL55,OBSCN,PRSS38,RHOU,RNF187,SNAP47,TRIM11,TRIM17,WNT3A,WNT9A,ZNF847P 22086 nsv826908 1 225962009 226757723 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423897 S 31 1 0 ARF1,C1orf35,GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,JMJD4,LOC100130093,MIR3620,MIR4666,MRPL55,OBSCN,PRSS38,RNF187,SNAP47,TRIM11,TRIM17,WNT3A,WNT9A NA18968 nsv515496 1 225979097 226034561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656192,nssv685630,nssv678134,nssv688321,nssv657798,nssv672343,nssv691322,nssv706069,nssv674739,nssv653322,nssv656035,nssv691302,nssv669589,nssv657033,nssv682125,nssv658371,nssv655930,nssv692887,nssv675688,nssv661954,nssv664423,nssv663718,nssv687627,nssv660970,nssv670947,nssv683178,nssv655111 M 2026 0 27 JMJD4,LOC100130093,SNAP47 nsv873249 1 225986684 226188171 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529783 S 6533 0 1 JMJD4,LOC100130093,PRSS38,SNAP47,WNT9A MS10123 esv8091 1 226012974 226013044 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30532 S 1 1 0 SNAP47 SJK nsv519324 1 226072681 226090091 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696792 S 2026 1 0 PRSS38 dgv26n21 1 226082993 226086465 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522256,nsv528332 M 2026 2 0 PRSS38 nsv468249 1 226082993 226112131 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543377 S 1557 0 1 PRSS38 1780854495_A esv2632112 1 226090141 226091755 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170586 S 1 0 1 PRSS38 NA18507 esv998645 1 226090277 226091028 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563613 S 3 0 1 PRSS38 HuRef esv2384898 1 226090551 226091241 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846383 S 1 0 1 PRSS38 NA18507 dgv8n6 1 226090717 226091041 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv160557,nsv159589 M 24 PRSS38 esv1562504 1 226090729 226091041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303572 S 2 0 1 PRSS38 HuRef esv7960 1 226090731 226091081 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30401 S 1 0 1 PRSS38 SJK nsv516409 1 226101754 226363368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695015,nssv684814,nssv669590,nssv654535,nssv668165,nssv688018,nssv677714 M 2026 0 7 ARF1,C1orf35,MIR3620,MRPL55,WNT3A,WNT9A nsv523935 1 226104747 226748372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699781 S 2026 0 1 ARF1,C1orf35,GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,MIR3620,MIR4666,MRPL55,OBSCN,RNF187,TRIM11,TRIM17,WNT3A,WNT9A nsv873250 1 226117857 226188171 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573738 S 6533 0 1 WNT9A IS33504 nsv873251 1 226117857 226227534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571451 S 6533 0 1 WNT9A IS32737 esv2062920 1 226160861 226161285 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977365 S 1 0 1 "" NA18507 esv2392264 1 226164052 226164401 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580717 S 1 0 1 "" NA18507 nsv826920 1 226173533 226183111 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432587 S 31 1 0 WNT9A NA18972 nsv826931 1 226179088 226179632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431869 S 31 0 1 WNT9A AK20 nsv826942 1 226185553 226191512 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436390 S 31 1 0 WNT9A NA18542 nsv832803 1 226221741 226380304 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441694 S 95 0 1 ARF1,C1orf35,MIR3620,MRPL55,WNT3A esv22404 1 226225181 226228486 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18813 S 451 0 1 "" NA11993 nsv873252 1 226241151 226438174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585794 S 6533 0 1 ARF1,C1orf35,GJC2,GUK1,IBA57,MIR3620,MRPL55,WNT3A IS37646 nsv826953 1 226258552 226263490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432598 S 31 1 0 WNT3A NA18972 dgv537n71 1 226298224 226610423 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873253,nsv873254 M 6533 0 2 ARF1,C1orf35,GJC2,GUK1,IBA57,MIR3620,MRPL55,OBSCN,WNT3A IS33504,MS16153 nsv826964 1 226313425 226314277 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429611 S 31 1 0 WNT3A AK14 nsv873255 1 226321376 226751402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530439 S 6533 0 1 ARF1,C1orf35,GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,MIR3620,MIR4666,MRPL55,OBSCN,RNF187,TRIM11,TRIM17 MS10311 esv2593706 1 226321896 226324272 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290297 S 1 0 1 "" NA18507 esv27321 1 226321898 226327823 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10341 S 451 3 0 "" NA06985,NA11894,NA12776 nsv821395 1 226321898 226327823 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421002 S 1 0 1 "" NA10851 dgv104n67 1 226322821 226326786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826975,nsv826986,nsv826997 M 31 0 3 "" NA18582,NA18973,NA18999 nsv827008 1 226323390 226326718 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436391 S 31 1 0 "" NA18542 nsv482143 1 226361003 226363636 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558504 S 1 1 0 MRPL55 KB1 nsv827019 1 226380790 226717643 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434907 S 31 0 1 GJC2,GUK1,HIST3H2A,HIST3H2BB,HIST3H3,IBA57,MIR4666,OBSCN,TRIM11,TRIM17 NA18942 nsv873256 1 226389449 226426398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510655 S 6533 0 1 GJC2,GUK1,IBA57 SP54988 nsv873257 1 226389449 226478729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509766 S 6533 0 1 GJC2,GUK1,IBA57,OBSCN SP54956 dgv538n71 1 226400711 226426398 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873258,nsv873261,nsv873259 M 6533 0 6 GJC2,GUK1,IBA57 SP53990,SP54042,SP54725,SP55019,SP55021,SP57469 dgv539n71 1 226400900 226437721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873262,nsv873260 M 6533 0 2 GJC2,GUK1,IBA57 SP54043,SP54225 nsv827031 1 226410705 226416413 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424521 S 31 1 0 GJC2 NA18947 dgv105n67 1 226411360 226414569 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827042,nsv827053 M 31 2 0 GJC2 NA18526,NA18972 esv4840 1 226428422 226428881 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27281 S 1 0 1 Single Asian sample YH IBA57 YH esv1008511 1 226428612 226428835 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566712 S 3 0 1 IBA57 HuRef esv1771567 1 226428647 226428839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951406 S 2 0 1 IBA57 HuRef nsv873263 1 226458431 226561413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552756 S 6533 0 1 OBSCN MS19630 dgv540n71 1 226490270 226623411 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873272,nsv873266,nsv873264,nsv873273,nsv873269,nsv873268 M 6533 0 7 OBSCN IS32841,IS33630,IS34407,IS39233,MS19584,MS20286,MS21868 nsv520340 1 226490559 226522770 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697358 S 2026 1 0 OBSCN nsv873265 1 226501018 226591631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592791,nssv1575694 M 6533 0 2 OBSCN IS33797,IS39258 dgv541n71 1 226501018 226652460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873278,nsv873267,nsv873274,nsv873276,nsv873275 M 6533 0 13 OBSCN,TRIM11 IS30197,IS31045,IS32322,IS32737,IS33455,IS34005,IS34908,IS36876,IS37646,MS10386,MS11467,MS13770,MS18276 nsv873270 1 226509286 226766100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546472 S 6533 0 1 HIST3H2A,HIST3H2BB,HIST3H3,MIR4666,OBSCN,RNF187,TRIM11,TRIM17 MS17208 nsv873271 1 226517491 226537618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509767 S 6533 0 1 OBSCN SP54956 nsv517545 1 226522770 226752622 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670195,nssv664603,nssv668715,nssv676839,nssv677715,nssv686799,nssv652328,nssv691445,nssv692740,nssv657126,nssv690278,nssv669591,nssv664588,nssv706056,nssv688019 M 2026 0 15 HIST3H2A,HIST3H2BB,HIST3H3,MIR4666,OBSCN,RNF187,TRIM11,TRIM17 nsv827064 1 226526557 226536060 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432620 S 31 1 0 OBSCN NA18972 nsv873277 1 226530871 226623411 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530330 S 6533 1 0 OBSCN MS10296 nsv470780 1 226530871 226673588 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544417,nssv544418,nssv544416 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OBSCN,TRIM11,TRIM17 HGDP00298,HGDP00550,HGDP00825 esv995050 1 226535865 226545380 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563715 S 3 0 1 OBSCN HuRef dgv542n71 1 226561413 226747818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873281,nsv873279 M 6533 0 2 HIST3H2A,HIST3H2BB,HIST3H3,MIR4666,OBSCN,RNF187,TRIM11,TRIM17 MS19226,MS24487 nsv873280 1 226567250 226669652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509768 S 6533 0 1 OBSCN,TRIM11,TRIM17 SP54956 nsv508697 1 226606660 226689237 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620154 S 4 0 1 HIST3H3,OBSCN,TRIM11,TRIM17 NA15510 esv2640294 1 226638072 226639714 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195658 S 1 0 1 "" NA18507 esv1954034 1 226638601 226639312 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909232 S 1 0 1 "" NA18507 nsv159804 1 226638784 226639112 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178382 M 24 "" esv6596 1 226638799 226639144 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29037 S 1 0 1 "" SJK nsv468305 1 226747818 226798300 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543429 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RNF187 HGDP00560 esv24714 1 226783177 226850297 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15299,esv19715 M 451 11 14 DUSP5P,RHOU NA06985,NA07045,NA11894,NA11995,NA12004,NA12006,NA12156,NA12287,NA12489,NA12749,NA12776,NA15510,NA18505,NA18508,NA18517,NA18916,NA19108,NA19114,NA19147,NA19225,NA19257 nsv827075 1 226783177 226850297 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421505,nssv1428074,nssv1440868,nssv1437990,nssv1434223,nssv1437270,nssv1423180,nssv1426440,nssv1438062,nssv1424534,nssv1435740,nssv1431870,nssv1424794,nssv1438627,nssv1436392,nssv1433473,nssv1423908,nssv1424009,nssv1429612,nssv1427309,nssv1432631,nssv1440177,nssv1439509,nssv1430398,nssv1422417,nssv1425555,nssv1428870 M 31 0 27 DUSP5P,RHOU AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv509635 1 226788282 226888608 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623811 S 4 1 0 DUSP5P,RHOU NA18994 nsv511020 1 226788282 226930908 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618636 S 4 0 0 DUSP5P,RHOU CHM nsv511124 1 226809080 226847294 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624376 S 1 0 1 DUSP5P,RHOU 1 dgv106n67 1 226809585 226850026 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827086,nsv827097 M 31 0 2 DUSP5P,RHOU NA18566,NA18942 nsv820567 1 226809585 226850026 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421013 S 1 0 1 DUSP5P,RHOU NA10851 nsv160594 1 226821095 226823309 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179172 M 24 "" dgv9n6 1 226822360 226824562 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159946,nsv160307 M 24 "" nsv4788 1 226824299 226825206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1746 S 9 1 0 "" NA18555 dgv10n6 1 226838004 226840255 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv159594,nsv159225 M 24 "" nsv511738 1 226881056 226881950 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626383 S 1 0 1 RHOU 1 esv6055 1 226881415 226881770 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28496 S 1 0 1 RHOU SJK esv1454255 1 226881441 226881777 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784772 S 2 0 1 RHOU HuRef esv269305 1 227026519 227026604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514173,essv2518805,essv2515113,essv2516138,essv2516168,essv2517172,essv2519029,essv2513899,essv2518908,essv2518407,essv2519420 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12043,NA12045,NA12812,NA12873,NA12891,NA18970,NA19141,NA19143,NA19239,NA19240 esv273153 1 227026524 227026863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582722,essv2584528,essv2583662 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv1326977 1 227026556 227026556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721226 S 2 1 0 "" HuRef nsv437266 1 227033244 227034568 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467147 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 nsv820260 1 227089316 227097121 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419844 S 2 0 1 "" AK1 nsv827108 1 227093631 227094515 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440869,nssv1421506,nssv1433475,nssv1427310,nssv1428076 M 31 0 5 "" AK10,AK8,NA18526,NA18969,NA18997 nsv873282 1 227208556 227262243 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530331 S 6533 1 0 "" MS10296 nsv873283 1 227211084 227398303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597037 S 6533 1 0 "" IS40708 nsv527652 1 227433809 227440247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704123 S 2026 0 1 "" nsv516336 1 227438736 227440247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693593,nssv676369,nssv667674 M 2026 0 3 "" esv3470 1 227439910 227440632 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25911 S 1 0 1 Single Asian sample YH "" YH esv9229 1 227439959 227440411 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31670 S 1 0 1 "" SJK esv25148 1 227478304 227480214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18349 S 451 0 3 RAB4A NA18505,NA18907,NA19147 nsv827119 1 227500075 227500745 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440870 S 31 1 0 RAB4A NA18969 dgv543n71 1 227549771 227637684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873285,nsv873284 M 6533 0 2 ACTA1 MS19277,MS22146 esv259426 1 227655489 227655871 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393759,essv2394357 M 6 0 0 Samples from several populations that are part of the HapMap project. NUP133 NA19238,NA19240 esv259749 1 227655501 227655881 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396080,essv2400641,essv2396101,essv2395732,essv2400062,essv2401009,essv2399299,essv2395194,essv2396435,essv2397995,essv2395959,essv2400454 M 144 0 0 Samples from several populations that are part of the HapMap project. NUP133 NA07346,NA18510,NA18523,NA18853,NA18861,NA19099,NA19102,NA19108,NA19138,NA19147,NA19238,NA19240 nsv827130 1 227719352 227720637 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431871 S 31 1 0 ABCB10 AK20 esv28834 1 227760415 227761345 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19220 S 451 0 1 ABCB10 NA18508 esv1750293 1 227789428 227789428 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354587 S 2 1 0 "" HuRef esv22567 1 227828010 227828728 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21330 S 451 0 1 TAF5L,URB2 NA07045 nsv508698 1 227852691 227905219 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617421,nssv622788 M 4 0 2 URB2 CHM,NA18994 nsv4799 1 227866306 227897812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv585,nssv3820,nssv10510 M 9 0 3 "" NA12878,NA18956,NA19240 nsv8891 1 227874674 227889647 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27025,nssv25187,nssv21080,nssv21415,nssv25180,nssv23695,nssv26847 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA10839,NA18564,NA18572,NA18853,NA18975,NA18980,NA19240 esv2643721 1 227878348 227887895 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172877 S 1 0 1 "" NA18507 dgv6n50 1 227878463 227888902 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511739,nsv511139 M 1 0 1 "" 1 nsv436315 1 227878654 227887386 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465879 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv819423 1 227878853 227886237 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419824 S 2 0 1 "" AK1 esv1924374 1 227878979 227887643 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842082 S 1 0 1 "" NA18507 dgv107n67 1 227879006 227883005 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827153,nsv827142,nsv827164,nsv827175 M 31 0 18 "" AK10,AK12,AK2,AK20,AK4,AK6,NA18526,NA18542,NA18552,NA18564,NA18566,NA18570,NA18947,NA18951,NA18969,NA18972,NA18973,NA18999 esv27308 1 227879149 227896400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20986,esv10730 M 451 0 15 "" NA11894,NA12004,NA12239,NA12287,NA12414,NA12878,NA18502,NA18505,NA18858,NA18861,NA19114,NA19190,NA19225,NA19240,NA19257 esv5724 1 227879153 227887464 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28165 S 1 0 1 "" SJK nsv498711 1 227879156 227887464 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585427 S 9 0 1 "" nsv160940 1 227879161 227887463 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179518 M 24 "" nsv514047 1 227879296 227882848 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628103 S 1414 0 1 "" esv2421933 1 227883479 227886819 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5127530,essv5057840,essv5084270,essv5152174,essv5050768,essv5104423,essv5033079,essv5052138,essv5023615,essv5096058,essv5081035,essv5156897,essv5155181,essv5019881,essv5013194,essv5072733,essv5141877,essv5061613,essv5107299,essv5049152,essv5089666,essv5094879,essv5029273,essv5085527,essv5005294,essv5110162,essv5076696,essv5090251,essv5017464,essv5023661,essv5099461,essv5112087,essv5034125,essv5097915,essv5109744,essv5018494,essv5011858,essv5010571,essv5068714,essv5046883,essv5084741,essv5039158,essv5010394,essv5021787,essv5159412,essv5033957,essv5006201,essv5023474,essv5074727,essv5007652,essv5078965,essv5098675,essv5066778,essv5146820,essv5095337,essv5090628,essv5105954,essv5139962,essv5114592,essv5064984,essv5104362,essv5138868,essv5077605,essv5139238,essv5054024,essv5077799,essv5158181,essv5146456,essv5103463,essv5022079,essv5092351,essv5147492,essv5016169,essv5057927,essv5123763,essv5111927,essv5083802,essv5057371,essv5043694,essv5119750,essv5078163,essv5055626,essv5099843,essv5053731,essv5076167,essv5129317,essv5079434,essv5074630,essv5038696,essv5135490,essv5030405,essv5113786,essv5005826,essv5083012,essv5141142,essv5044313,essv5097688,essv5057470,essv5058596,essv5102170,essv5038770,essv5130888,essv5058451,essv5033861,essv5073452,essv5152535,essv5021555,essv5094619,essv5055651,essv5136185,essv5145034,essv5053209,essv5084054,essv5073321,essv5085803,essv5049400,essv5106388,essv5030392,essv5016894,essv5138463,essv5004518,essv5017004,essv5050477,essv5023029,essv5086116,essv5040418,essv5062419,essv5082562,essv5046788,essv5109023,essv5040066,essv5091380,essv5098625,essv5023322,essv5004899,essv5080600,essv5078643,essv5061566,essv5018586,essv5114576,essv5076019,essv5153817,essv5030462,essv5132215,essv5092823,essv5011735,essv5096371,essv5078285,essv5038146,essv5073306,essv5015594,essv5145807,essv5088656,essv5069287,essv5120845,essv5087937,essv5092017,essv5013014,essv5132731,essv5139079,essv5020802,essv5049031,essv5157718,essv5147597,essv5037311,essv5074272,essv5140369,essv5148198,essv5057774,essv5018606,essv5077142,essv5028480,essv5008553,essv5066287,essv5038791,essv5015218,essv5045869,essv5064778,essv5046765,essv5151990,essv5080767,essv5039720,essv5136103,essv5085725,essv5142286,essv5134671,essv5090783,essv5105139,essv5081365,essv5008841,essv5150344,essv5133362,essv5155453,essv5053188,essv5114777,essv5118908,essv5130868,essv5079259,essv5059081,essv5026763,essv5140678,essv5116894,essv5123630,essv5067150,essv5033734,essv5150200,essv5059983,essv5057502,essv5084262,essv5095875,essv5037237,essv5121954,essv5035063,essv5154654,essv5070271,essv5065086,essv5101734,essv5082728,essv5083601,essv5105823,essv5101546,essv5068799,essv5067501,essv5008034,essv5139030,essv5052921,essv5098796,essv5143478,essv5155569,essv5061149,essv5136883,essv5045589,essv5078341,essv5156761,essv5120774,essv5038669,essv5054770,essv5039323,essv5030921,essv5145885,essv5052485,essv5071961,essv5093261,essv5154088,essv5119161,essv5123592,essv5036845,essv5006439,essv5010683,essv5127036,essv5138187,essv5069303,essv5059737,essv5016493,essv5156249,essv5119378,essv5026116,essv5047292,essv5018008,essv5160468,essv5021129,essv5101863,essv5068062,essv5151257,essv5143164,essv5062813,essv5061828,essv5095278,essv5092693,essv5140681,essv5159798,essv5159737,essv5127125,essv5037633,essv5017812,essv5090127,essv5120912,essv5038940,essv5041942,essv5006716,essv5133155,essv5080881,essv5096137,essv5090054,essv5085517,essv5082890,essv5029742,essv5091236,essv5153931,essv5085305,essv5048888,essv5137099,essv5010962,essv5065695,essv5092404,essv5121393,essv5066202,essv5055480,essv5030530,essv5066808,essv5044774,essv5026249,essv5112983,essv5158534,essv5016756,essv5146266,essv5119900,essv5143899,essv5144979,essv5015118,essv5062098,essv5015386,essv5099994,essv5012205,essv5132471,essv5104927,essv5053517,essv5031386,essv5092863,essv5076117,essv5037351,essv5015329,essv5132734,essv5060828,essv5056164,essv5076853,essv5117923,essv5014652,essv5125587,essv5007614,essv5123396,essv5160426,essv5045263,essv5005506,essv5007249,essv5002439,essv5025459,essv5132037,essv5059971,essv5148973,essv5140649,essv5089965,essv5016513,essv5135226,essv5083837,essv5109819,essv5080532,essv5089597,essv5150620,essv5125310,essv5102072,essv5035853,essv5115791,essv5131483,essv5153726,essv5037270,essv5147959,essv5072223,essv5001985,essv5065027,essv5132943,essv5082213,essv5140662,essv5037857,essv5070776,essv5088782,essv5065755,essv5124249,essv5139548,essv5048336,essv5137424,essv5016405,essv5073889,essv5054187,essv5037769,essv5058302,essv5132184,essv5033798,essv5018327,essv5149834,essv5053478,essv5011530,essv5144401,essv5038376,essv5018140,essv5129709,essv5098128,essv5052135,essv5117878,essv5147326,essv5047650,essv5153903,essv5025897,essv5136335,essv5022599,essv5031115,essv5070616,essv5053830,essv5140656,essv5013984,essv5133697,essv5033565,essv5140331,essv5131734,essv5156401,essv5119166,essv5133265,essv5057026,essv5083523,essv5094813,essv5143281,essv5047825,essv5071707,essv5078484,essv5077278,essv5149903,essv5065066,essv5075831,essv5011162,essv5108407,essv5128249,essv5111089,essv5131327,essv5059548,essv5161194,essv5018497,essv5109952,essv5076566,essv5112816,essv5159665,essv5007322,essv5154697,essv5073954,essv5126170,essv5027361,essv5034171,essv5004964,essv5072056,essv5029458,essv5045053,essv5030984,essv5149225,essv5124426,essv5159722,essv5039670,essv5138424,essv5114251,essv5122275,essv5107413,essv5068263,essv5121161,essv5132355,essv5082278,essv5087175,essv5152837,essv5129915,essv5157644,essv5029595,essv5151144,essv5160335,essv5109343,essv5068162,essv5119884,essv5081220,essv5033296,essv5104462,essv5013976,essv5076376,essv5018262,essv5080244,essv5122782,essv5121349,essv5152126,essv5015635,essv5041153,essv5094654,essv5081786,essv5082592,essv5101258,essv5035844,essv5133084,essv5086412,essv5087555,essv5157251,essv5070266,essv5024415,essv5148520,essv5090712,essv5069296,essv5114544,essv5076427,essv5004065,essv5107732,essv5050150,essv5065372,essv5145209,essv5073447,essv5086822,essv5154185,essv5132300,essv5033413,essv5050876,essv5027078,essv5118822,essv5006808,essv5132701,essv5041159,essv5025718,essv5017473,essv5147784,essv5102473,essv5005731,essv5141830,essv5112068 M 1184 0 514 "" NA06986,NA06989,NA06995,NA07051,NA07347,NA07357,NA10830,NA10835,NA10839,NA10846,NA10854,NA10856,NA10859,NA10863,NA11829,NA11840,NA11882,NA11891,NA11894,NA11919,NA11920,NA11930,NA12005,NA12044,NA12144,NA12145,NA12154,NA12234,NA12239,NA12249,NA12275,NA12287,NA12340,NA12344,NA12347,NA12386,NA12400,NA12739,NA12748,NA12762,NA12763,NA12766,NA12767,NA12775,NA12778,NA12814,NA12815,NA12832,NA12842,NA12865,NA12874,NA12878,NA12891,NA12892,NA17965,NA17967,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17981,NA17982,NA17983,NA17986,NA17987,NA17993,NA17995,NA17996,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18112,NA18120,NA18127,NA18129,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18141,NA18143,NA18144,NA18147,NA18148,NA18149,NA18150,NA18152,NA18153,NA18154,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18516,NA18518,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18542,NA18543,NA18545,NA18546,NA18552,NA18557,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18593,NA18594,NA18596,NA18599,NA18609,NA18611,NA18615,NA18616,NA18617,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18647,NA18685,NA18689,NA18694,NA18702,NA18704,NA18740,NA18745,NA18749,NA18757,NA18853,NA18855,NA18857,NA18861,NA18863,NA18870,NA18872,NA18874,NA18912,NA18914,NA18924,NA18933,NA18934,NA18935,NA18947,NA18948,NA18951,NA18952,NA18954,NA18956,NA18959,NA18960,NA18961,NA18967,NA18969,NA18970,NA18971,NA18973,NA18975,NA18976,NA18979,NA18980,NA18987,NA18991,NA18993,NA18994,NA18998,NA18999,NA19000,NA19001,NA19005,NA19036,NA19041,NA19046,NA19055,NA19057,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19067,NA19068,NA19072,NA19074,NA19077,NA19078,NA19079,NA19080,NA19083,NA19087,NA19088,NA19093,NA19094,NA19098,NA19102,NA19103,NA19113,NA19114,NA19115,NA19117,NA19118,NA19122,NA19123,NA19130,NA19137,NA19149,NA19151,NA19174,NA19175,NA19176,NA19178,NA19180,NA19189,NA19190,NA19191,NA19192,NA19194,NA19198,NA19199,NA19206,NA19208,NA19210,NA19211,NA19213,NA19222,NA19223,NA19225,NA19226,NA19238,NA19240,NA19247,NA19257,NA19309,NA19311,NA19317,NA19324,NA19332,NA19360,NA19379,NA19380,NA19396,NA19397,NA19429,NA19435,NA19436,NA19440,NA19451,NA19455,NA19463,NA19468,NA19625,NA19649,NA19650,NA19652,NA19660,NA19664,NA19665,NA19670,NA19675,NA19676,NA19677,NA19678,NA19680,NA19681,NA19682,NA19683,NA19700,NA19701,NA19708,NA19718,NA19725,NA19726,NA19727,NA19747,NA19749,NA19751,NA19756,NA19761,NA19773,NA19774,NA19777,NA19778,NA19779,NA19781,NA19782,NA19834,NA19904,NA19916,NA19918,NA19921,NA20127,NA20128,NA20129,NA20277,NA20284,NA20291,NA20292,NA20294,NA20297,NA20317,NA20319,NA20335,NA20344,NA20346,NA20347,NA20359,NA20360,NA20502,NA20504,NA20505,NA20508,NA20512,NA20522,NA20525,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20542,NA20589,NA20752,NA20756,NA20759,NA20760,NA20761,NA20766,NA20768,NA20769,NA20770,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20790,NA20792,NA20801,NA20803,NA20804,NA20806,NA20811,NA20813,NA20818,NA20819,NA20845,NA20846,NA20847,NA20849,NA20850,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20866,NA20869,NA20871,NA20872,NA20881,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20892,NA20895,NA20896,NA20899,NA20901,NA20902,NA20904,NA20909,NA20910,NA21086,NA21090,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21104,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21307,NA21311,NA21312,NA21314,NA21317,NA21333,NA21355,NA21360,NA21361,NA21363,NA21367,NA21368,NA21370,NA21371,NA21381,NA21382,NA21385,NA21386,NA21405,NA21415,NA21425,NA21436,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21457,NA21475,NA21476,NA21489,NA21490,NA21520,NA21521,NA21522,NA21524,NA21573,NA21577,NA21578,NA21580,NA21599,NA21600,NA21601,NA21613,NA21619,NA21634,NA21647,NA21678,NA21683,NA21685,NA21689,NA21722,NA21739,NA21740,NA21741 nsv442599 1 227883479 227886819 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv523763 1 227888902 227891674 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699584 S 2026 0 1 "" nsv438148 1 227888902 227894006 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469951,nssv469940 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10838,NA12004 esv2488766 1 228072833 228073713 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299492 S 1 1 0 "" NA18507 esv2576101 1 228101511 228102908 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249406 S 1 0 1 "" NA18507 esv2577312 1 228173949 228174974 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260339 S 1 1 0 "" NA18507 esv259640 1 228174132 228174508 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394219,essv2393944,essv2393816,essv2394013,essv2394315 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv1010662 1 228197932 228207100 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563570 S 3 0 1 "" HuRef nsv511143 1 228198206 228201384 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625488 S 1 0 1 "" 1 esv2475640 1 228198523 228201039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362290 S 1 0 1 "" NA18507 esv2057263 1 228199087 228200586 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874439 S 1 0 1 "" NA18507 nsv511740 1 228199131 228200754 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626385 S 1 0 1 "" 1 esv26332 1 228199470 228200805 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18434 S 451 0 6 "" NA12156,NA18508,NA18907,NA19108,NA19190,NA19257 nsv832814 1 228205983 228402005 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441695 S 95 1 0 GALNT2 esv275327 1 228257641 228271161 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585233,essv2585140 M 1250 1 1 GALNT2 nsv873286 1 228280942 228331965 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530332 S 6533 1 0 GALNT2 MS10296 nsv873287 1 228287788 228331242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552757,nssv1553458 M 6533 0 2 GALNT2 MS19630,MS20041 nsv528956 1 228314187 228330582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705652 S 2026 0 1 GALNT2 nsv832825 1 228338069 228505163 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441697 S 95 0 1 GALNT2 nsv873288 1 228353751 228445286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533634 S 6533 0 1 GALNT2 MS11249 nsv827186 1 228475244 228475980 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437271 S 31 0 1 GALNT2 NA18949 nsv518223 1 228476785 228483917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695647 S 2026 0 1 GALNT2 nsv873289 1 228476785 228488100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561159 S 6533 0 1 GALNT2 MS24868 nsv520656 1 228481916 228482841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697540 S 2026 0 1 GALNT2 nsv516432 1 228482661 228483917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661344,nssv683156,nssv694339,nssv655622,nssv672780,nssv668326 M 2026 0 6 GALNT2 nsv526554 1 228488654 228490104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702868 S 2026 0 1 "" esv2225956 1 228494667 228495090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691771 S 1 0 1 "" NA18507 nsv468327 1 228502361 228506880 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543450 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01081 nsv519157 1 228502361 228506880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696635 S 2026 0 1 "" nsv470781 1 228502361 228510401 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544419,nssv544420 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00449,HGDP01081 esv1919607 1 228517521 228518015 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539348 S 1 0 1 "" NA18507 esv2587431 1 228534283 228534643 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315872 S 1 1 0 PGBD5 NA18507 esv272675 1 228560880 228561003 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580892,essv2579280,essv2579392 M 7 3 0 Samples from several populations that are part of the HapMap project. PGBD5 NA19238,NA19239,NA19240 esv28174 1 228568676 228589684 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20963 S 451 3 0 PGBD5 NA11993,NA18523,NA19257 esv24937 1 228596610 228599831 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18049 S 451 1 0 "" NA18916 esv2296334 1 228598423 228598839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626814 S 1 0 1 "" NA18507 esv23377 1 228627962 228629048 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12808 S 451 0 1 "" NA07045 esv2421558 1 228646927 228654748 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135055,essv5063501,essv5142622,essv5027847,essv5046051,essv5152290,essv5059128,essv5044922,essv5143173,essv5064845,essv5012707,essv5146615,essv5060328,essv5108247,essv5063245,essv5099417,essv5097371,essv5104720,essv5008335,essv5150158,essv5057468,essv5067511,essv5035038,essv5137281,essv5044652,essv5087979,essv5030360,essv5022851,essv5152548,essv5083241,essv5144599,essv5027883,essv5050965,essv5014141,essv5115876,essv5045657,essv5064973,essv5022586,essv5117136 M 1184 0 39 "" NA18857,NA19036,NA19159,NA19161,NA19221,NA19223,NA19247,NA19249,NA19347,NA19352,NA19376,NA19384,NA19394,NA19436,NA19439,NA19451,NA19466,NA19708,NA20317,NA20344,NA20359,NA20582,NA21320,NA21352,NA21357,NA21365,NA21366,NA21368,NA21390,NA21414,NA21441,NA21442,NA21509,NA21523,NA21619,NA21650,NA21678,NA21723,NA21733 esv274876 1 228670433 228680733 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585557 S 1250 0 1 "" nsv4810 1 228678072 228711596 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3829 S 9 1 0 "" NA12878 nsv508064 1 228680770 228686770 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618523 S 4 0 1 "" CHM nsv527891 1 228721990 228734873 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704394 S 2026 1 0 "" esv1054652 1 228768878 228768878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725907 S 2 1 0 "" HuRef nsv873290 1 228773546 228812517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553155 S 6533 0 1 "" MS19771 esv32952 1 228779487 228782225 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93924,essv96814,essv94615,essv92802,essv96431,essv99137,essv100182 M 51 7 0 "" 21634,21659,21932,21944,22261,22275,22286 nsv160269 1 228791153 228791153 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178847 M 24 "" esv1582763 1 228791248 228791248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758744 S 2 1 0 "" HuRef dgv27n21 1 228812517 228816269 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527218,nsv522630 M 2026 0 2 "" nsv524949 1 228888107 228888383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700967 S 2026 0 1 COG2 nsv832836 1 228895697 229034632 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441698 S 95 0 1 AGT,CAPN9,COG2 esv270056 1 229151746 229152093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519300,essv2517065,essv2518673,essv2515333,essv2516332,essv2517940,essv2515891,essv2517759,essv2515828,essv2518346 M 157 10 0 Samples from several populations that are part of the HapMap project. TTC13 NA11894,NA11931,NA12045,NA12249,NA12814,NA12872,NA12873,NA12878,NA18969,NA19240 esv272542 1 229151746 229152093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581567,essv2581164 M 7 2 0 Samples from several populations that are part of the HapMap project. TTC13 NA12878,NA19240 esv2459424 1 229213146 229214024 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330861 S 1 1 0 "" NA18507 esv2097594 1 229248063 229248472 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830798 S 1 0 1 "" NA18507 esv5135 1 229249614 229250128 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27576 S 1 0 1 Single Asian sample YH "" YH esv1004661 1 229254791 229254843 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578913 S 3 0 1 "" HuRef nsv873291 1 229311024 229350751 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530333 S 6533 1 0 "" MS10296 esv2433292 1 229323846 229324913 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207430 S 1 1 0 "" NA18507 esv1266647 1 229324483 229324483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587783 S 2 1 0 "" HuRef esv270172 1 229349480 229349812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511821,essv2494633,essv2513358,essv2501263,essv2506533,essv2502028 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18519,NA18907,NA19093,NA19108,NA19257 nsv508065 1 229358451 229364451 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621490,nssv618524,nssv622306,nssv624233 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2494270 1 229369283 229370754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229293 S 1 0 1 TRIM67 NA18507 esv1972788 1 229369515 229370192 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686812 S 1 0 1 TRIM67 NA18507 esv7591 1 229369699 229370003 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30032 S 1 0 1 TRIM67 SJK nsv517116 1 229385301 229389962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683876,nssv674401,nssv656768,nssv689495,nssv653381,nssv652647,nssv663273,nssv666987,nssv657975,nssv684344,nssv652884,nssv653811,nssv672611,nssv672883,nssv664842,nssv665817,nssv663936,nssv659411,nssv659733,nssv689029,nssv673075 M 2026 0 21 TRIM67 esv27426 1 229386536 229388661 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18729 S 451 0 3 TRIM67 NA18508,NA18858,NA18907 nsv818833 1 229387089 229388566 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416701,nssv1416702 M 112 0 2 TRIM67 NA19160,NA19161 dgv18n17 1 229387089 229391106 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437271,nsv437270,nsv437267,nsv437268 M 60 0 4 TRIM67 NA18506,NA18860,NA19139,NA19161 esv2555185 1 229404273 229404848 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256968 S 1 1 0 TRIM67 NA18507 nsv873292 1 229407056 229488798 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530334 S 6533 1 0 C1orf131,GNPAT,TRIM67 MS10296 esv2182022 1 229413111 229413602 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630860 S 1 0 1 TRIM67 NA18507 esv23094 1 229497906 229511290 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16249 S 451 1 1 "" NA11993,NA19108 nsv827197 1 229538427 229539873 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431873 S 31 0 1 EXOC8 AK20 nsv819245 1 229556039 229556651 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419024 S 2 0 1 C1orf124 AK1 esv270203 1 229559794 229559879 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519157 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv827208 1 229602071 229612586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434910,nssv1429613,nssv1435701 M 31 0 3 EGLN1 AK14,NA18566,NA18942 nsv441741 1 229602207 229609275 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EGLN1 esv2421419 1 229602207 229609279 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143535,essv5104034,essv5037618,essv5155297,essv5133249,essv5138588,essv5149901,essv5156599,essv5036200,essv5107991,essv5023159,essv5093066 M 1184 0 12 EGLN1 NA17972,NA17980,NA17983,NA18150,NA18153,NA18536,NA18566,NA18614,NA18694,NA18942,NA18955,NA19072 nsv827219 1 229641326 229643897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431130 S 31 0 1 "" AK18 nsv873293 1 229645795 229798365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530335 S 6533 1 0 LOC100287814,SNRPD2P2,TSNAX,TSNAX-DISC1 MS10296 dgv544n71 1 229674883 229910585 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873295,nsv873294 M 6533 0 2 DISC1,LOC100287814,SNRPD2P2,TSNAX,TSNAX-DISC1 IS41964,MS21868 dgv187e1 1 229691383 229982619 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24276,esv602,essv21230 M 271 0 0 DISC1,LOC100287814,TSNAX,TSNAX-DISC1 NA10856,NA11830 nsv516935 1 229718014 229879757 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701885,nssv655054,nssv673980,nssv685923,nssv694737,nssv657699,nssv683120,nssv685222,nssv693621 M 2026 9 0 DISC1,LOC100287814,TSNAX,TSNAX-DISC1 nsv873296 1 229771352 229883465 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578054 S 6533 1 0 DISC1,LOC100287814,TSNAX-DISC1 IS34648 nsv8902 1 229776582 229881534 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24883 S 31 1 0 Samples from several populations that are part of the HapMap project. DISC1,LOC100287814,TSNAX-DISC1 NA11830 nsv873297 1 229778112 229834513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585458 S 6533 0 1 DISC1,LOC100287814,TSNAX-DISC1 IS37467 nsv468338 1 229778112 229879757 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543461 S 1557 1 0 DISC1,LOC100287814,TSNAX-DISC1 1780846030_A nsv4821 1 229779759 229815121 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv593 S 9 1 0 LOC100287814,TSNAX-DISC1 NA19240 dgv188e1 1 229793717 229894664 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25116,essv19056 M 271 0 0 DISC1,LOC100287814,TSNAX-DISC1 NA10856,NA11830 nsv4832 1 229825618 229856492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3836 S 9 1 0 DISC1,TSNAX-DISC1 NA12878 dgv545n71 1 229846734 229929827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873299,nsv873298 M 6533 0 2 DISC1,TSNAX-DISC1 MS14359,MS21020 nsv873300 1 229875338 230020052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514360,nssv1513176 M 6533 0 2 DISC1,DISC2,TSNAX-DISC1 SP55694,SP56002 esv1761772 1 229935465 229935465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632300 S 2 1 0 DISC1,TSNAX-DISC1 HuRef nsv509646 1 229985602 230012405 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619824,nssv623812,nssv617999 M 4 3 0 DISC1,TSNAX-DISC1 CHM,NA10860,NA18994 nsv4843 1 229995308 230003727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3837 S 9 1 0 DISC1,TSNAX-DISC1 NA12878 esv272656 1 229998683 229998965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581007,essv2578870,essv2579748 M 7 3 0 Samples from several populations that are part of the HapMap project. DISC1,TSNAX-DISC1 NA19238,NA19239,NA19240 esv271157 1 229998694 229998779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516486,essv2516241 M 157 2 0 Samples from several populations that are part of the HapMap project. DISC1,TSNAX-DISC1 NA12814,NA12891 esv994187 1 230001860 230002269 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564243 S 3 1 0 DISC1,TSNAX-DISC1 HuRef nsv4855 1 230098102 230100398 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3838 S 9 1 0 DISC1,TSNAX-DISC1 NA12878 nsv468382 1 230152108 230269643 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543502 S 1557 0 1 DISC1,TSNAX-DISC1 1780862530_A nsv873301 1 230178881 230246966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599338 S 6533 0 1 DISC1,TSNAX-DISC1 IS41603 nsv827230 1 230206141 230208159 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434225 S 31 1 0 DISC1,TSNAX-DISC1 NA18570 nsv528452 1 230225302 230247195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705051 S 2026 0 1 DISC1,TSNAX-DISC1 esv1238042 1 230318910 230318910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797943 S 2 1 0 "" HuRef nsv832847 1 230387678 230582558 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441699 S 95 0 1 "" nsv4866 1 230414370 230458693 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1747 S 9 0 1 "" NA18555 esv272693 1 230416623 230417008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578995 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv873302 1 230426381 230613260 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523604 S 6533 1 0 SIPA1L2 SP54110 nsv526070 1 230446119 230451233 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702310 S 2026 0 1 "" nsv873303 1 230487885 230523808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530336 S 6533 1 0 "" MS10296 esv2439851 1 230488916 230490431 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181446 S 1 0 1 "" NA18507 esv2087346 1 230489546 230490276 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952446 S 1 0 1 "" NA18507 esv3764 1 230489705 230490210 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26205 S 1 0 1 Single Asian sample YH "" YH esv9142 1 230489711 230490072 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31583 S 1 0 1 "" SJK esv1011005 1 230489745 230490072 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574196 S 3 0 1 "" HuRef esv1309144 1 230489756 230490084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199689 S 2 0 1 "" HuRef nsv159622 1 230489757 230490084 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178200 M 24 "" nsv511140 1 230523808 230527800 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625154 S 1 0 1 "" 1 esv2609681 1 230524478 230527389 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258466 S 1 0 1 "" NA18507 esv1005339 1 230524734 230528757 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564211 S 3 0 1 "" HuRef esv2245122 1 230525027 230527072 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768459 S 1 0 1 "" NA18507 nsv511741 1 230525169 230526872 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626386 S 1 0 1 "" 1 esv996127 1 230525189 230526400 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586945 S 3 0 1 "" HuRef dgv108n67 1 230525189 230526655 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827265,nsv827241,nsv827254 M 31 0 8 "" AK14,AK16,AK4,AK8,NA18547,NA18949,NA18951,NA18968 esv7610 1 230525214 230526867 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30051 S 1 0 1 "" SJK nsv158971 1 230525214 230526874 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177549 M 24 "" esv27862 1 230525246 230526864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10676 S 451 0 18 "" NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA18508,NA18517,NA18523,NA19225,NA19257 esv1001999 1 230525246 230526965 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586281 S 3 0 1 "" HuRef esv1663066 1 230534693 230534742 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641170 S 2 0 1 "" HuRef esv259499 1 230571369 230571645 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394195,essv2393713,essv2394331 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19240 esv259757 1 230571372 230571668 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400873,essv2399363,essv2397302,essv2395579,essv2397715,essv2396165,essv2399889,essv2395080,essv2394675,essv2395326,essv2394454,essv2396191,essv2395467,essv2397153,essv2397725,essv2394579,essv2397399,essv2398736,essv2398297,essv2395171,essv2396422,essv2399674,essv2396001,essv2400457 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11993,NA12287,NA12878,NA18501,NA18502,NA18523,NA18561,NA18571,NA18870,NA18916,NA18943,NA18944,NA18948,NA18951,NA18956,NA18965,NA18980,NA19005,NA19093,NA19108,NA19138,NA19210,NA19238,NA19240 esv8579 1 230571456 230571555 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31020 S 1 1 0 "" SJK esv1302051 1 230571558 230571558 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208631 S 2 1 0 "" HuRef esv6581 1 230571560 230571647 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29022 S 1 1 0 "" SJK nsv521855 1 230574258 230580289 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694629 S 2026 1 0 "" nsv517546 1 230576628 230580289 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658706,nssv652329 M 2026 2 0 "" nsv820068 1 230633630 230634604 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419139 S 2 0 1 SIPA1L2 AK1 dgv546n71 1 230634664 230674478 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873304,nsv873305 M 6533 0 3 SIPA1L2 IS34573,MS24528,MS26017 esv269082 1 230654366 230654692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558078,essv2571621,essv2526074,essv2531908,essv2577454,essv2570489,essv2535091,essv2554084,essv2552108,essv2547513,essv2529281,essv2576238,essv2564134,essv2530554,essv2537202,essv2528422,essv2546850,essv2540044,essv2552557,essv2532450,essv2569403,essv2550009,essv2527351,essv2544955,essv2523714,essv2538410,essv2542866,essv2540397,essv2524640,essv2565062,essv2534721,essv2549409,essv2519837,essv2560013,essv2521949,essv2566081,essv2531108,essv2532497,essv2567850,essv2529004,essv2567427,essv2541817,essv2569918,essv2553350,essv2535806,essv2572306,essv2558981,essv2550935,essv2543753,essv2527967,essv2539373,essv2533937,essv2578322,essv2555449,essv2533588,essv2555691,essv2567049,essv2527674,essv2534322,essv2543296,essv2577017,essv2571915,essv2529648,essv2574981,essv2538499,essv2526674,essv2560657,essv2524267,essv2574580,essv2572898,essv2568630,essv2545175,essv2549716,essv2571301,essv2574275,essv2548905,essv2554764,essv2547996,essv2524823,essv2563233 M 157 80 0 Samples from several populations that are part of the HapMap project. SIPA1L2 NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11840,NA11918,NA12006,NA12043,NA12044,NA12249,NA12287,NA12489,NA12717,NA12749,NA12814,NA12828,NA12873,NA12878,NA12891,NA12892,NA18489,NA18502,NA18505,NA18508,NA18511,NA18522,NA18526,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18858,NA18870,NA18907,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18952,NA18959,NA18965,NA18970,NA18973,NA19093,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238,NA19240 esv273096 1 230654366 230654692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581925,essv2582319,essv2582928,essv2584035,essv2583386 M 7 5 0 Samples from several populations that are part of the HapMap project. SIPA1L2 NA12878,NA12891,NA12892,NA19238,NA19240 esv994086 1 230654382 230654382 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569893 S 3 1 0 SIPA1L2 HuRef esv1056324 1 230654397 230654397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239658 S 2 1 0 SIPA1L2 HuRef esv2750829 1 230661638 231445842 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985215,essv6988905,essv6985212,essv6985213,essv6985214 M 771 1 0 KIAA1383,NTPCR,PCNXL2,SIPA1L2 SPC_127 nsv4877 1 230723280 230757175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4999 S 9 1 0 "" NA19129 esv26795 1 230788474 230789653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13574 S 451 0 1 "" NA12749 nsv159788 1 230815723 230817765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178366 M 24 "" esv4864 1 230842090 230842563 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27305 S 1 0 1 Single Asian sample YH "" YH esv2502448 1 230884575 230885939 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348443 S 1 0 1 "" NA18507 esv2343946 1 230885085 230885519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842390 S 1 0 1 "" NA18507 esv2470235 1 230935402 230936300 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318703 S 1 1 0 "" NA18507 esv272360 1 230935861 230936127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580354 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv1198787 1 230935886 230935886 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896714 S 2 1 0 "" HuRef esv27250 1 230956876 230965864 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12356 S 451 1 1 "" NA12776,NA12828 nsv827276 1 230957171 230963832 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424010 S 31 0 1 "" NA18582 esv2430324 1 230958126 230964601 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280962 S 1 0 1 "" NA18507 nsv873306 1 231048739 231503026 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579706 S 6533 1 0 NTPCR,PCNXL2 IS35167 nsv832858 1 231180926 231348095 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441700 S 95 0 1 PCNXL2 nsv873307 1 231221604 231284033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578946 S 6533 0 1 PCNXL2 IS34996 dgv547n71 1 231221604 231328776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873309,nsv873308 M 6533 0 2 PCNXL2 MS18742,MS21868 nsv873310 1 231267490 231322903 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530337 S 6533 1 0 PCNXL2 MS10296 nsv437272 1 231300770 231308629 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467153 S 60 0 1 Samples from several populations that are part of the HapMap project. PCNXL2 NA19205 nsv832870 1 231322629 231482615 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441701 S 95 0 1 PCNXL2 nsv873311 1 231347920 231378780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567284 S 6533 0 1 PCNXL2 IS31067 nsv522164 1 231348833 231376041 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694937 S 2026 1 0 PCNXL2 nsv528272 1 231368281 231370581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704840 S 2026 0 1 PCNXL2 esv269699 1 231408706 231409043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519318 S 157 1 0 Samples from several populations that are part of the HapMap project. PCNXL2 NA11894 nsv873312 1 231408843 231525095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557305 S 6533 0 1 PCNXL2 MS22601 esv22442 1 231534565 231535081 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11169 S 451 4 0 KIAA1804 NA18517,NA19190,NA19240,NA19257 esv2431778 1 231585310 231586240 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192450 S 1 1 0 KIAA1804 NA18507 esv273887 1 231585718 231585948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579161,essv2579674 M 7 2 0 Samples from several populations that are part of the HapMap project. KIAA1804 NA19239,NA19240 esv269665 1 231585735 231586064 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571711,essv2522696,essv2571050,essv2570534,essv2554083,essv2552222,essv2577725,essv2565269,essv2564096,essv2554969,essv2537420,essv2562631,essv2569478,essv2539066,essv2544885,essv2523496,essv2552796,essv2541117,essv2542914,essv2540258,essv2565057,essv2534771,essv2561078,essv2522038,essv2530955,essv2532472,essv2567941,essv2529054,essv2570293,essv2535625,essv2558967,essv2533749,essv2566595,essv2557602,essv2534435,essv2522558,essv2531532,essv2525719,essv2529564,essv2538830,essv2523983,essv2549819,essv2545815,essv2537819,essv2524986,essv2563222 M 157 46 0 Samples from several populations that are part of the HapMap project. KIAA1804 NA07000,NA07357,NA10847,NA11840,NA11931,NA11993,NA12044,NA12287,NA12489,NA12761,NA12812,NA12828,NA12872,NA12878,NA18507,NA18508,NA18519,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18571,NA18573,NA18576,NA18577,NA18579,NA18593,NA18608,NA18638,NA18944,NA18948,NA18953,NA18959,NA18960,NA18961,NA18980,NA19093,NA19108,NA19129,NA19225,NA19239 nsv4888 1 231658293 231690398 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3839 S 9 1 0 "" NA12878 nsv521927 1 231735349 231737008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694697 S 2026 0 1 "" nsv522289 1 231754864 231767919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695071 S 2026 0 1 "" dgv28n21 1 231781554 231802091 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523182,nsv525793 M 2026 2 0 "" nsv525217 1 231796069 231812882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701303 S 2026 0 1 "" nsv827287 1 231815401 231817373 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432644 S 31 1 0 KCNK1 NA18972 nsv827298 1 231815634 231816837 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440872 S 31 1 0 KCNK1 NA18969 nsv528071 1 231822688 231832150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704607 S 2026 0 1 KCNK1,MIR4427 esv27945 1 231832888 231833668 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20225 S 451 0 4 KCNK1 NA18858,NA18907,NA19240,NA19257 nsv522207 1 231871795 231879695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694144 S 2026 0 1 KCNK1 nsv159841 1 231875039 231875039 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178419 M 24 "" nsv832881 1 231896561 232078841 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441702 S 95 1 0 "" esv2479947 1 231931345 231932844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347468 S 1 0 1 "" NA18507 esv1009645 1 231931532 231932320 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564279 S 3 0 1 "" HuRef esv2272839 1 231931580 231932275 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518506 S 1 0 1 "" NA18507 esv5970 1 231931763 231932119 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28411 S 1 0 1 "" SJK esv1059840 1 231931778 231932109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776964 S 2 0 1 "" HuRef esv7709 1 231980123 231980215 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30150 S 1 1 0 "" SJK nsv832892 1 231986370 232167217 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441703 S 95 0 1 SLC35F3 nsv819592 1 232016517 232019178 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419460 S 2 0 1 "" AK1 nsv508066 1 232026619 232032619 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618525,nssv624234 M 4 0 2 "" CHM,NA18994 esv2621090 1 232028299 232031268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314345 S 1 0 1 "" NA18507 nsv511742 1 232028629 232030966 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626387 S 1 0 1 "" 1 nsv827309 1 232080059 232081018 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431131 S 31 0 1 "" AK18 nsv506983 1 232118851 232124851 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620680,nssv623295,nssv619264 M 4 3 0 SLC35F3 NA10860,NA15510,NA18994 esv268052 1 232137155 232137484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558212,essv2546414,essv2521127,essv2536721,essv2522850,essv2556603,essv2523216,essv2531687,essv2521819,essv2576620,essv2550728,essv2525283,essv2535281,essv2553990,essv2547168,essv2529405,essv2564560,essv2577859,essv2553573,essv2559541,essv2565306,essv2564071,essv2530621,essv2537213,essv2528648,essv2520918,essv2552678,essv2551887,essv2562779,essv2569590,essv2578825,essv2536915,essv2539207,essv2552905,essv2541453,essv2538294,essv2542751,essv2540237,essv2549205,essv2519595,essv2559943,essv2567797,essv2528708,essv2563822,essv2535516,essv2572600,essv2543516,essv2533757,essv2555771,essv2556103,essv2526808,essv2575585,essv2575151,essv2538741,essv2572842,essv2560496,essv2549815,essv2545900,essv2574149,essv2537719,essv2548988,essv2547625,essv2524786,essv2563159 M 157 64 0 Samples from several populations that are part of the HapMap project. SLC35F3 NA07000,NA07037,NA07347,NA07357,NA10847,NA10851,NA11881,NA11894,NA11920,NA11931,NA11994,NA12004,NA12006,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12873,NA12878,NA12891,NA18498,NA18502,NA18504,NA18507,NA18508,NA18510,NA18517,NA18519,NA18542,NA18545,NA18547,NA18550,NA18552,NA18564,NA18566,NA18570,NA18577,NA18579,NA18603,NA18608,NA18609,NA18870,NA18944,NA18945,NA18956,NA19005,NA19099,NA19102,NA19108,NA19143,NA19190,NA19225,NA19239,NA19240 esv272794 1 232137155 232137484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581651,essv2582664,essv2584708,essv2583854 M 7 4 0 Samples from several populations that are part of the HapMap project. SLC35F3 NA12878,NA12891,NA19239,NA19240 esv1716945 1 232137187 232137187 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280901 S 2 1 0 SLC35F3 HuRef esv272018 1 232189857 232189942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513997,essv2518365 M 157 2 0 Samples from several populations that are part of the HapMap project. SLC35F3 NA19143,NA19240 esv272225 1 232189857 232189942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581189 S 7 1 0 Samples from several populations that are part of the HapMap project. SLC35F3 NA19240 nsv4899 1 232213765 232247727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8178 S 9 1 0 SLC35F3 NA12156 nsv873313 1 232272285 232377380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587659 S 6533 0 1 SLC35F3 IS38092 esv33741 1 232316803 232316906 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98702,essv100671,essv98167,essv101365,essv97862,essv93666,essv97280,essv99797,essv95032,essv96440,essv100189,essv94294 M 51 0 12 SLC35F3 21606,21656,21772,21805,21837,21972,22075,22086,22231,22261,22286,22394 esv33370 1 232323088 232323409 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97539,essv94535 M 51 0 2 SLC35F3 21616,21932 nsv832903 1 232330964 232487226 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441708,nssv1441709,nssv1441705,nssv1441706,nssv1441710,nssv1441711,nssv1441713,nssv1441721,nssv1441714,nssv1441712,nssv1441717,nssv1441720,nssv1441719,nssv1441724,nssv1441722,nssv1441723,nssv1441725,nssv1441704,nssv1441726,nssv1441715,nssv1441716 M 95 0 21 SLC35F3 nsv519237 1 232344068 232346267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696728 S 2026 0 1 SLC35F3 nsv873314 1 232355979 232474619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530338 S 6533 1 0 SLC35F3 MS10296 nsv819148 1 232384422 232386460 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419371 S 2 0 1 SLC35F3 AK1 esv4582 1 232385234 232386448 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27023 S 1 0 1 Single Asian sample YH SLC35F3 YH nsv159799 1 232385268 232386370 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178377 M 24 SLC35F3 esv7223 1 232385271 232386374 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29664 S 1 0 1 SLC35F3 SJK esv990606 1 232385486 232386200 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586959 S 3 1 0 SLC35F3 HuRef dgv109n67 1 232385486 232386334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827320,nsv827331 M 31 0 28 SLC35F3 AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv24323 1 232385802 232386274 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16067 S 451 0 1 SLC35F3 NA12776 esv1005100 1 232385812 232386343 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586192 S 3 1 0 SLC35F3 HuRef nsv827342 1 232385860 232386334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434226 S 31 0 1 SLC35F3 NA18570 nsv509657 1 232403562 232414880 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618000,nssv619826,nssv623814,nssv621110 M 4 4 0 SLC35F3 CHM,NA10860,NA15510,NA18994 nsv512759 1 232449900 232450787 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625389 S 1 1 0 SLC35F3 1 nsv522312 1 232456048 232461794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695092 S 2026 0 1 SLC35F3 nsv873315 1 232495415 232508880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511835 S 6533 0 1 MIR4671,SLC35F3 SP55125 nsv159229 1 232572811 232576481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177807 M 24 C1orf31 esv269165 1 232629517 232629602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519001 S 157 1 0 Samples from several populations that are part of the HapMap project. TARBP1 NA19141 nsv4910 1 232639505 232656359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8185 S 9 0 1 TARBP1 NA12156 esv4245 1 232653749 232654244 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26686 S 1 0 1 Single Asian sample YH TARBP1 YH esv1010367 1 232653826 232654135 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581905 S 3 0 1 TARBP1 HuRef esv1731674 1 232653834 232654144 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064257 S 2 0 1 TARBP1 HuRef dgv29n21 1 232670496 232679673 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524608,nsv519695 M 2026 0 2 TARBP1 esv21821 1 232680689 232681459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13288 S 451 0 1 TARBP1 NA07045 nsv832914 1 232722606 232924137 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441727 S 95 0 1 IRF2BP2,LINC00184,LOC100506795 nsv441742 1 232770219 232774658 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv110n67 1 232770404 232775990 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827353,nsv827365,nsv827376 M 31 0 3 "" NA18547,NA18942,NA18973 nsv524784 1 232770669 232773999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700776 S 2026 0 1 "" nsv468395 1 232776892 232810873 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543514 S 1557 0 1 IRF2BP2 1780862416_A nsv827387 1 232783177 232823596 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423952 S 31 1 0 IRF2BP2 NA18968 nsv4921 1 232790749 232824369 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2782 S 9 1 0 IRF2BP2 NA18555 nsv873316 1 232796266 232819211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511171,nssv1511322,nssv1510656,nssv1509769,nssv1508820 M 6533 0 5 IRF2BP2 SP54725,SP54956,SP54988,SP55019,SP55021 esv25047 1 232810941 232813883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16213 S 451 0 2 IRF2BP2 NA07045,NA12489 esv2353164 1 232865325 232865770 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622061 S 1 0 1 "" NA18507 esv2532455 1 232871939 232872857 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222830 S 1 1 0 "" NA18507 esv271924 1 232872318 232872648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558004,essv2565605,essv2521334,essv2526108,essv2542341,essv2522833,essv2544223,essv2570959,essv2556787,essv2568062,essv2545353,essv2523446,essv2531933,essv2577382,essv2570417,essv2548295,essv2576885,essv2550647,essv2550287,essv2535326,essv2554162,essv2552061,essv2520277,essv2547413,essv2558507,essv2564482,essv2577896,essv2559686,essv2565281,essv2576351,essv2520137,essv2564156,essv2530762,essv2537384,essv2528605,essv2546976,essv2540118,essv2557481,essv2552544,essv2551906,essv2532142,essv2562589,essv2569365,essv2578683,essv2527306,essv2561354,essv2523811,essv2542644,essv2524552,essv2565059,essv2539570,essv2519713,essv2522283,essv2541632,essv2559327,essv2566784,essv2541931,essv2569158,essv2527968,essv2539440,essv2533785,essv2530029,essv2527480,essv2543356,essv2529685,essv2575541,essv2575331,essv2538536,essv2523975,essv2560860,essv2574811,essv2530340,essv2572837,essv2568796,essv2560242,essv2549785,essv2571531,essv2545981,essv2574537,essv2551598,essv2537796,essv2548744,essv2533421,essv2554505,essv2547658,essv2524989,essv2563314 M 157 87 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12878,NA12891,NA12892,NA18489,NA18499,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18522,NA18523,NA18537,NA18550,NA18555,NA18558,NA18563,NA18566,NA18571,NA18592,NA18638,NA18853,NA18856,NA18861,NA18907,NA18912,NA18944,NA18949,NA18952,NA18965,NA19093,NA19099,NA19102,NA19108,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273434 1 232872318 232872648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582113,essv2582495,essv2583198,essv2583945,essv2584765,essv2583728 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv832925 1 232875925 233058352 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441731,nssv1441730,nssv1441728 M 95 0 3 LOC100506810 nsv873317 1 232878410 232898822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597065 S 6533 0 1 "" IS40729 nsv506984 1 232890271 232896271 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623296 S 4 1 0 "" NA18994 nsv827398 1 232917530 232917994 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434227 S 31 0 1 "" NA18570 dgv189e1 1 232939949 233051938 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24409,essv7309 M 271 0 0 "" NA12707,NA18570 dgv190e1 1 232939949 233194586 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14394,essv9689,essv6697,essv15277,essv12262,essv16420,essv4293,essv4953,esv456,essv8106,essv11108,essv7150 M 271 0 0 "" NA18507,NA18547,NA18603,NA18608,NA18637,NA18913,NA19094,NA19101,NA19139,NA19206,NA19211 nsv428323 1 232939949 233194586 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453153,nssv453142,nssv453164 M 62 0 3 "" HGDP00450,HGDP00460,NA18498 dgv111n67 1 232973634 233024889 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827431,nsv827442,nsv827409 M 31 29 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821094 1 232973634 233024889 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421024 S 1 1 0 "" NA10851 esv29663 1 232978568 233024889 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14900 S 451 13 5 "" NA07045,NA11993,NA11995,NA12004,NA12156,NA12239,NA12414,NA12749,NA12878,NA18505,NA18511,NA18517,NA18858,NA18909,NA19129,NA19190,NA19225,NA19257 nsv8913 1 232978694 233025699 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21775,nssv27155,nssv23980,nssv23702,nssv24298 M 31 3 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA18564,NA18980,NA19007,NA19132 nsv827420 1 232978850 232985100 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424012 S 31 1 0 "" NA18582 nsv525688 1 233092198 233094294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701846 S 2026 0 1 "" nsv873318 1 233116648 233150556 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530339 S 6533 1 0 "" MS10296 nsv528765 1 233120332 233128804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705428 S 2026 0 1 "" nsv4932 1 233128273 233149159 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5009 S 9 1 0 "" NA19129 esv270361 1 233167440 233167749 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493686 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv4943 1 233174054 233201574 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8195 S 9 1 0 "" NA12156 esv1346720 1 233228421 233228421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666340 S 2 1 0 "" HuRef esv2462790 1 233320997 233323502 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344925 S 1 0 1 "" NA18507 nsv508699 1 233347104 233382593 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622789,nssv619000,nssv620155 M 4 0 3 RBM34,SNORA14B,TOMM20 NA10860,NA15510,NA18994 esv275126 1 233347186 233365995 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586049 S 1250 0 1 RBM34,SNORA14B,TOMM20 dgv30n21 1 233427940 233835001 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523941,nsv528775 M 2026 2 0 ARID4B,B3GALNT2,GGPS1,GNG4,TBCE dgv548n71 1 233435701 233541363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873320,nsv873319 M 6533 0 2 ARID4B SP52114,SP57472 nsv827453 1 233459124 233459581 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440876 S 31 0 1 ARID4B NA18969 nsv873321 1 233490230 233769335 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539630 S 6533 1 0 ARID4B,B3GALNT2,GGPS1,TBCE MS14396 esv1108970 1 233524363 233524518 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735562 S 2 0 1 ARID4B HuRef esv1314619 1 233526784 233526784 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632032 S 2 1 0 ARID4B HuRef esv1721702 1 233539568 233539568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883823 S 2 1 0 ARID4B HuRef esv2523478 1 233603127 233605576 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252271 S 1 0 1 TBCE NA18507 nsv471774 1 233603367 233605161 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646055 M 0.448 95 TBCE esv1003266 1 233603602 233605070 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565276 S 3 0 1 TBCE HuRef nsv468406 1 233625329 233693029 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543525 S 1557 1 0 B3GALNT2,TBCE 1780854491_A nsv873322 1 233632535 233783963 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593121,nssv1589161 M 6533 2 0 B3GALNT2,GNG4,TBCE IS38303,IS39361 nsv509668 1 233636037 233660848 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621111,nssv619827 M 4 2 0 TBCE NA10860,NA15510 nsv4954 1 233638783 233662862 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3840 S 9 1 0 TBCE NA12878 dgv549n71 1 233677716 233783963 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873324,nsv873323,nsv873325 M 6533 3 0 B3GALNT2,GNG4,TBCE IS37498,MS10296,MS25675 nsv524135 1 233747085 233752293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700013 S 2026 0 1 "" nsv819005 1 233747162 233752430 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419696 S 2 0 1 "" AK1 esv21937 1 233767082 233771549 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19758 S 451 0 1 "" NA18508 esv2471335 1 233816894 233817777 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318849 S 1 1 0 GNG4 NA18507 nsv832936 1 233874221 234039870 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441732,nssv1441733 M 95 2 0 GNG4,LYST nsv832947 1 234000922 234185165 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441734 S 95 1 0 LYST,MIR1537 nsv508701 1 234022168 234055491 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622790 S 4 0 1 LYST NA18994 nsv159765 1 234114063 234114529 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178343 M 24 "" dgv31n21 1 234117830 234120795 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524989,nsv517883 M 2026 0 2 "" esv2655115 1 234120613 234122262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165715 S 1 0 1 "" NA18507 esv1930649 1 234121005 234121753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737426 S 1 0 1 "" NA18507 esv7675 1 234121178 234121545 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30116 S 1 0 1 "" SJK nsv160124 1 234121199 234121536 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178702 M 24 "" nsv832958 1 234150544 234355279 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441735 S 95 0 1 NID1 esv9322 1 234206309 234206397 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31763 S 1 1 0 NID1 SJK nsv509679 1 234281751 234348107 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623815,nssv621112,nssv619828 M 4 3 0 NID1 NA10860,NA15510,NA18994 nsv873326 1 234297523 234376647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579707 S 6533 1 0 GPR137B IS35167 nsv4966 1 234321503 234344990 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5027,nssv1765,nssv6186,nssv3841,nssv9418 M 9 5 0 "" NA12156,NA12878,NA18517,NA18555,NA19129 nsv468417 1 234321657 234332288 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543536 S 1557 0 1 "" 1782681278_A esv989080 1 234326467 234327001 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564281 S 3 1 0 "" HuRef esv2486243 1 234326832 234327366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289063 S 1 1 0 "" NA18507 esv998032 1 234327225 234328673 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564413 S 3 1 0 "" HuRef nsv832969 1 234340935 234541366 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441736 S 95 1 0 ERO1LB,GPR137B nsv827464 1 234345490 234346353 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431877 S 31 1 0 "" AK20 esv8947 1 234345914 234346460 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31388 S 1 0 1 "" SJK nsv516792 1 234349280 234357655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670903,nssv693540,nssv655322,nssv661118 M 2026 0 4 "" nsv468428 1 234350923 234424014 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543547 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR137B HGDP00264 nsv468439 1 234358516 234376647 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543558 S 1557 0 1 GPR137B 1780862101_A nsv827476 1 234371368 234373399 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432647 S 31 1 0 GPR137B NA18972 dgv550n71 1 234414628 234492743 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873328,nsv873327 M 6533 3 0 ERO1LB,GPR137B MS12347,MS12545,MS13436 esv1123909 1 234416256 234416256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056459 S 2 1 0 GPR137B HuRef esv28317 1 234429924 234432582 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14827 S 451 0 1 GPR137B NA19108 nsv522991 1 234445772 234480069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698661 S 2026 0 1 ERO1LB nsv827487 1 234451921 234452471 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440877 S 31 0 1 ERO1LB NA18969 esv1064239 1 234469801 234469801 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650262 S 2 1 0 ERO1LB HuRef nsv468450 1 234480069 234613009 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543569 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERO1LB HGDP00307 nsv508702 1 234569240 234618109 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620156,nssv622791 M 4 0 2 "" NA15510,NA18994 nsv4977 1 234578807 234620873 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1766 S 9 0 1 "" NA18555 dgv551n71 1 234592191 234697323 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873329,nsv873330 M 6533 3 0 EDARADD IS31338,IS35011,IS38220 esv269512 1 234604793 234606477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516653,essv2514194,essv2516303 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12814 esv1002624 1 234605389 234609416 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565753 S 3 1 0 "" HuRef esv2601364 1 234614948 234618304 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202829 S 1 0 1 "" NA18507 esv1989882 1 234615552 234618141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827534 S 1 0 1 "" NA18507 esv3512 1 234615682 234618090 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25953 S 1 0 1 Single Asian sample YH "" YH nsv511743 1 234615686 234618105 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626389 S 1 0 1 "" 1 nsv498712 1 234615709 234617970 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585428 S 9 0 1 "" esv7130 1 234615717 234617951 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29571 S 1 0 1 "" SJK esv1594760 1 234615726 234617969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209242 S 2 0 1 "" HuRef nsv820827 1 234650974 234652210 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421035 S 1 0 1 EDARADD NA10851 esv28853 1 234650974 234653136 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14989,esv19151 M 451 14 0 EDARADD NA12004,NA12489,NA12749,NA18511,NA18517,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19190,NA19225,NA19257 esv5800 1 234661543 234661894 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28241 S 1 0 1 EDARADD SJK nsv159414 1 234661563 234661887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177992 M 24 EDARADD nsv516855 1 234665731 234854412 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654460,nssv658486,nssv683069,nssv684990,nssv659604 M 2026 5 0 EDARADD,HEATR1,LGALS8,LGALS8-AS1 dgv60n27 1 234670834 234848562 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468472,nsv468461 M 1557 2 0 EDARADD,HEATR1,LGALS8,LGALS8-AS1 HGDP00021,HGDP01202 esv2598617 1 234727882 234728210 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219672 S 1 1 0 "" NA18507 esv1610037 1 234728137 234728137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105077 S 2 1 0 "" HuRef esv24676 1 234768471 234770388 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15756,esv18577,esv14371 M 451 0 5 LGALS8 NA07037,NA12239,NA12776,NA12878,NA15510 esv995705 1 234768471 234788319 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586311 S 3 1 0 HEATR1,LGALS8 HuRef esv2002103 1 234789781 234790184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946157 S 1 0 1 HEATR1 NA18507 dgv552n71 1 234806039 234859199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873331,nsv873333,nsv873332 M 6533 0 3 HEATR1 IS31980,MS24083,MS24624 nsv4988 1 234929087 234990306 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6197,nssv3843,nssv5036,nssv10547,nssv2788 M 9 5 0 ACTN2 NA12156,NA12878,NA18555,NA18956,NA19129 dgv191e1 1 234933459 234968987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20816,esv977 M 271 0 0 ACTN2 NA10855 nsv510599 1 234938531 234951630 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618637 S 4 0 0 ACTN2 CHM nsv8924 1 234942342 234946131 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24889,nssv27513,nssv25717,nssv22748,nssv25467,nssv22415,nssv23989,nssv22744,nssv25697,nssv27145,nssv27296,nssv24588,nssv22747,nssv27285,nssv27942 M 31 1 14 Samples from several populations that are part of the HapMap project. ACTN2 NA07029,NA10847,NA10863,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18564,NA18942,NA19132,NA19173,NA19221,NA19240 nsv509690 1 234942788 234951630 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623816,nssv619829 M 4 2 0 ACTN2 NA10860,NA18994 nsv820994 1 234943475 234945261 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421046 S 1 0 1 ACTN2 NA10851 nsv499679 1 234943517 234944988 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585601 S 9 1 0 ACTN2 esv995766 1 234943578 234944924 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586118 S 3 0 1 ACTN2 HuRef esv28532 1 234943578 234944997 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17607 S 451 2 11 ACTN2 NA12287,NA18502,NA18505,NA18508,NA18511,NA18861,NA18907,NA18909,NA19099,NA19114,NA19147,NA19225,NA19240 essv18459 1 234948326 234957404 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACTN2 NA11832 nsv509702 1 234960842 234960842 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621113 S 4 1 0 ACTN2 NA15510 nsv428335 1 234964582 235143595 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453175 S 62 1 0 ACTN2,MTR NA19113 nsv4999 1 234967222 235012146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1778 S 9 0 1 ACTN2 NA18555 esv2649810 1 234980724 234982196 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352231 S 1 0 1 ACTN2 NA18507 nsv511744 1 234985292 234987277 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626390 S 1 0 1 ACTN2 1 esv2641685 1 234985413 234987504 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370067 S 1 0 1 ACTN2 NA18507 esv2005187 1 234985520 234986394 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734663 S 1 0 1 ACTN2 NA18507 esv25038 1 234985539 234987149 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16401 S 451 22 0 ACTN2 NA12489,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820436 1 234985539 234987234 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421057 S 1 0 1 ACTN2 NA10851 esv1082367 1 234985776 234985825 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258434 S 2 0 1 ACTN2 HuRef esv1676660 1 234986330 234986477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717009 S 2 0 1 ACTN2 HuRef esv1209958 1 234986771 234987065 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152591 S 2 0 1 ACTN2 HuRef esv275031 1 234991515 234995748 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585820 S 1250 0 1 ACTN2 nsv522602 1 235004990 235006018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705993 S 2026 0 1 "" nsv5010 1 235026274 235040650 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3844 S 9 1 0 MTR NA12878 nsv5021 1 235073402 235098695 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8212 S 9 0 1 MTR NA12156 nsv8935 1 235186315 235201056 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25169 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 dgv61n27 1 235190394 235199343 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468483,nsv468494 M 1557 2 0 "" HGDP00940,HGDP01200 nsv528602 1 235190394 235199343 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705228 S 2026 1 0 "" nsv818844 1 235190394 235199343 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417825 S 112 1 0 "" NA18852 nsv441743 1 235190798 235198134 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516612 1 235195958 235197963 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669541,nssv689999 M 2026 0 2 "" esv34411 1 235198138 235199582 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979990,essv6979989 M 771 1 0 "" NA18912 dgv192e1 1 235198734 235212541 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv961,essv8555 M 271 0 0 "" NA18503 esv2468879 1 235228915 235229154 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233470 S 1 0 1 "" NA18507 nsv873334 1 235289531 235422467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522674 S 6533 0 1 RYR2 SP53332 nsv468506 1 235344140 235345763 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543625 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RYR2 HGDP00527 nsv832982 1 235350263 235511245 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441737 S 95 1 0 RYR2 nsv520100 1 235376762 235388592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697223 S 2026 0 1 RYR2 nsv521224 1 235388537 235388592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687200,nssv686062 M 2026 0 2 RYR2 nsv516399 1 235409270 235409750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673662,nssv659519,nssv690384,nssv684386,nssv656534,nssv668041,nssv661736,nssv672884,nssv700968 M 2026 0 9 RYR2 nsv5032 1 235449507 235453279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2792 S 9 1 0 RYR2 NA18555 nsv873335 1 235495143 235535927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567584 S 6533 0 1 RYR2 IS31123 nsv160668 1 235511856 235511856 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179246 M 24 RYR2 esv1753526 1 235516483 235516483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136827 S 2 1 0 RYR2 HuRef esv271004 1 235635800 235636140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557998,essv2565706,essv2575885,essv2542285,essv2536434,essv2522787,essv2544188,essv2570938,essv2556535,essv2545656,essv2531968,essv2521559,essv2550445,essv2553950,essv2544344,essv2520299,essv2529340,essv2558589,essv2577879,essv2520204,essv2564084,essv2555081,essv2562084,essv2537445,essv2528279,essv2546775,essv2557503,essv2532262,essv2537178,essv2552765,essv2538213,essv2542645,essv2540459,essv2524583,essv2534526,essv2561246,essv2549301,essv2519887,essv2522104,essv2566306,essv2530925,essv2532843,essv2567732,essv2529022,essv2570339,essv2553359,essv2572283,essv2559276,essv2578223,essv2555459,essv2533615,essv2566428,essv2529932,essv2573952,essv2534272,essv2522548,essv2573677,essv2543286,essv2573275,essv2525747,essv2529552,essv2538726,essv2526478,essv2560180,essv2571340,essv2536191,essv2538149,essv2563306 M 157 68 0 Samples from several populations that are part of the HapMap project. RYR2 NA06986,NA07000,NA10847,NA10851,NA11829,NA11830,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12006,NA12144,NA12234,NA12287,NA12414,NA12716,NA12749,NA12750,NA12761,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18499,NA18505,NA18517,NA18542,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18609,NA18638,NA18940,NA18943,NA18944,NA18948,NA18949,NA18951,NA18959,NA18960,NA18964,NA18965,NA18969,NA18980,NA19093,NA19108,NA19114,NA19190,NA19238 esv274049 1 235635807 235636145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581667,essv2582476,essv2582930,essv2584004 M 7 4 0 Samples from several populations that are part of the HapMap project. RYR2 NA12878,NA12891,NA12892,NA19238 nsv873336 1 235647229 235676547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600728 S 6533 0 1 RYR2 IS41921 nsv873337 1 235647229 235743969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585459 S 6533 0 1 RYR2 IS37467 nsv523073 1 235649381 235653007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698762 S 2026 0 1 RYR2 nsv524393 1 235669263 235670476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700311 S 2026 0 1 RYR2 nsv873338 1 235709857 235743969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555921,nssv1557451 M 6533 0 2 RYR2 MS21717,MS22705 nsv873339 1 235709857 235769332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530341 S 6533 1 0 RYR2 MS10296 esv1451750 1 235745660 235745660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914076 S 2 1 0 RYR2 HuRef nsv873340 1 235759813 236056745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524159 S 6533 0 1 RYR2 SP54885 esv2136360 1 235808466 235808836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980971 S 1 0 1 RYR2 NA18507 nsv159991 1 235808611 235808674 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178569 M 24 RYR2 nsv160537 1 235808679 235808742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179115 M 24 RYR2 esv24945 1 235820675 235821523 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12305 S 451 0 1 RYR2 NA18909 nsv827498 1 235861666 235862442 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431133 S 31 1 0 RYR2 AK18 nsv873341 1 235882169 235989866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575433 S 6533 0 1 RYR2 IS33747 esv8781 1 235949872 235949929 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31222 S 1 1 0 RYR2 SJK dgv193e1 1 236008417 236834725 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7733,essv7479,esv533 M 271 0 0 LOC100130331,LOC339535,RYR2,ZP4 NA18633 nsv820221 1 236014314 236014670 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418848 S 2 1 0 RYR2 AK1 esv1756390 1 236019448 236019448 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602135 S 2 1 0 RYR2 HuRef nsv8946 1 236030187 236032800 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28025,nssv25177,nssv27275 M 31 3 0 Samples from several populations that are part of the HapMap project. RYR2 NA12155,NA18860,NA19221 esv271972 1 236034213 236034550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514549,essv2519311,essv2515453,essv2518494,essv2516327,essv2514274,essv2517614,essv2516831,essv2517261,essv2515218 M 157 10 0 Samples from several populations that are part of the HapMap project. RYR2 NA11840,NA11894,NA12249,NA12287,NA12814,NA12874,NA12878,NA12892,NA18970,NA19238 esv272255 1 236034220 236034547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581826,essv2582989,essv2583921 M 7 3 0 Samples from several populations that are part of the HapMap project. RYR2 NA12878,NA12892,NA19238 nsv827509 1 236061654 236062285 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436397 S 31 0 1 RYR2 NA18542 nsv873342 1 236070397 236113226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530342 S 6533 1 0 LOC100130331,ZP4 MS10296 esv34468 1 236079393 236792582 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986950,essv6986949,essv6979802,essv6979803,essv6979804 M 771 1 0 LOC100130331,LOC339535,ZP4 NA18633 nsv873343 1 236131353 236316107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530343 S 6533 1 0 LOC100130331 MS10296 nsv832993 1 236152656 236328485 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441738 S 95 0 1 LOC100130331 nsv8957 1 236170223 236176408 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22743,nssv21410 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA18853 esv26929 1 236176893 236181505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11981 S 451 0 1 "" NA19108 nsv471615 1 236250319 236400935 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549245,nssv549246,nssv549251,nssv549249,nssv549248,nssv549250,nssv549247 M 48 4 3 "" NA10470,NA10471,NA10496,NA15724,NA15727,NA15731,NA17059 esv2442382 1 236280996 236282029 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214315 S 1 1 0 "" NA18507 nsv468517 1 236300720 236354756 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543636 S 1557 0 1 "" 1780854299_A esv23946 1 236383366 236384747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20025 S 451 0 1 "" NA18861 nsv5043 1 236388725 236420231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10562 S 9 1 0 "" NA18956 nsv160395 1 236418293 236418382 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178973 M 24 "" nsv517981 1 236434231 236434992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695393 S 2026 0 1 "" esv2422256 1 236508584 236714485 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161321 S 181 1 0 LOC339535 ND03770 nsv833004 1 236546393 236731426 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441739 S 95 0 1 LOC339535 nsv8968 1 236549542 236553482 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20758 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv515516 1 236552164 236554542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653422,nssv658007,nssv668376 M 2026 0 3 "" nsv521612 1 236600123 236796887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694466 S 2026 0 1 LOC339535 nsv873344 1 236643237 236996976 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567605 S 6533 1 0 LOC339535 IS31123 nsv873345 1 236655028 236734032 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528311 S 6533 1 0 LOC339535 SP81191 esv21542 1 236675676 236676635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15904 S 451 0 1 "" NA18916 nsv468528 1 236682489 236719591 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543647 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC339535 HGDP00855 nsv833015 1 236688056 236861593 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441742 S 95 0 1 LOC339535 nsv468550 1 236719591 236840429 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543668 S 1557 1 0 "" NINDS_212 nsv436204 1 236757562 236767971 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465880 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv873346 1 236760453 236793313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530344 S 6533 1 0 "" MS10296 nsv159463 1 236769991 236771595 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178041 M 24 "" nsv525909 1 236772552 236773344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702113 S 2026 0 1 "" nsv471775 1 236817115 236819235 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646056 M 0.147 95 "" esv26208 1 236817476 236818661 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16764 S 451 0 5 "" NA15510,NA18502,NA18517,NA19108,NA19257 esv999826 1 236817783 236818251 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587276 S 3 1 0 "" HuRef nsv470782 1 236824683 236846513 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544422 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01223 esv1677184 1 236871795 236871795 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665429 S 2 1 0 "" HuRef esv1288847 1 236871825 236871825 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184947 S 2 1 0 "" HuRef nsv833026 1 236872743 236995520 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441743 S 95 0 1 "" esv2535134 1 236918507 236920526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281777 S 1 0 1 "" NA18507 esv2303288 1 236918763 236920072 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805549 S 1 0 1 "" NA18507 nsv514920 1 236918864 236921776 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628462 S 1414 0 0 "" esv3214 1 236918884 236920062 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25655 S 1 0 1 Single Asian sample YH "" YH nsv442620 1 236918890 236922717 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv7940 1 236918941 236919877 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30381 S 1 0 1 "" SJK nsv518798 1 236920060 236922050 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694067 S 2026 0 1 "" nsv827520 1 236920856 236922980 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440878 S 31 0 1 "" NA18969 esv21908 1 236921617 236922722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14140 S 451 0 1 "" NA18517 esv275214 1 236985036 236985355 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585293 S 1250 0 1 "" nsv873347 1 236995104 237022170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580052 S 6533 0 1 "" IS35229 nsv470784 1 236997482 237019245 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544423 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00903 nsv506985 1 237066514 237072514 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617552 S 4 1 0 "" CHM nsv5054 1 237073109 237117362 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1784 S 9 0 1 "" NA18555 nsv873348 1 237090115 237422778 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567606 S 6533 1 0 "" IS31123 nsv468583 1 237127583 237157563 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543696 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00326 nsv818855 1 237141880 237146096 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417175 S 112 0 1 "" NA18550 nsv468594 1 237152806 237186990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543701 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01238 nsv468605 1 237176666 237222993 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543708 S 1557 0 1 "" 1780862432_A nsv470785 1 237214414 237239406 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544424 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00566 esv1003006 1 237279164 237279992 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586601 S 3 0 1 "" HuRef esv270887 1 237384120 237384295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511023,essv2502881,essv2508499,essv2512605,essv2497340,essv2508425,essv2512840,essv2498598 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA12156,NA12717,NA18489,NA18545,NA18582,NA18609,NA18858 esv268059 1 237492857 237493197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540847,essv2521265,essv2525997,essv2570772,essv2525400,essv2535468,essv2544445,essv2559715,essv2556850,essv2552395,essv2551932,essv2562583,essv2578678,essv2550208,essv2537132,essv2569696,essv2527341,essv2561343,essv2538254,essv2540525,essv2564869,essv2534906,essv2532564,essv2542013,essv2551099,essv2568886,essv2556310,essv2562500,essv2539435,essv2533953,essv2578182,essv2575451,essv2575198,essv2538834,essv2524166,essv2560913,essv2574799,essv2530231,essv2560483,essv2549764,essv2545993,essv2574288,essv2551408,essv2533126,essv2547908,essv2557856 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA10851,NA11831,NA11894,NA11918,NA11993,NA12156,NA12249,NA12414,NA12776,NA18501,NA18502,NA18504,NA18507,NA18510,NA18511,NA18517,NA18520,NA18522,NA18523,NA18547,NA18552,NA18558,NA18561,NA18576,NA18856,NA18858,NA18861,NA18871,NA18909,NA18912,NA18916,NA18940,NA19099,NA19102,NA19108,NA19129,NA19137,NA19138,NA19141,NA19190,NA19225,NA19239,NA19240,NA19257 esv274580 1 237492859 237493042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584476,essv2583848 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv159281 1 237533073 237537732 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177859 M 24 "" nsv518880 1 237542363 237542548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696339 S 2026 0 1 "" nsv873349 1 237542548 237654135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567607 S 6533 1 0 "" IS31123 nsv873350 1 237565538 237714763 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501120 S 6533 1 0 "" SP50943 nsv833037 1 237588791 237766035 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441744 S 95 0 1 "" nsv873351 1 237703236 238390823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567608 S 6533 1 0 CHRM3,FMN2,RPS7P5 IS31123 nsv873352 1 237822029 237865035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575367 S 6533 0 1 CHRM3 IS33724 dgv194e1 1 237832717 238456127 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5787,esv823 M 271 0 0 CHRM3,FMN2,RPS7P5 NA18566 nsv526244 1 237838077 237841293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702516 S 2026 0 1 "" esv2618187 1 237846157 237847190 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277690 S 1 1 0 "" NA18507 esv272375 1 237846730 237847070 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580204,essv2580402,essv2579889,essv2580996,essv2579128,essv2579724 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268357 1 237846751 237847082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536543,essv2548626,essv2550834,essv2553952,essv2552195,essv2520446,essv2547327,essv2553575,essv2530859,essv2520978,essv2557343,essv2556858,essv2552328,essv2578526,essv2549994,essv2558877,essv2536898,essv2527097,essv2561359,essv2561298,essv2530922,essv2535569,essv2541942,essv2551094,essv2543650,essv2527936,essv2562202,essv2539349,essv2575109,essv2560621,essv2572652,essv2560331,essv2548113,essv2571326,essv2551421,essv2537944,essv2563543,essv2557854 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA10851,NA11920,NA12045,NA12155,NA12287,NA12489,NA12716,NA12717,NA12763,NA12873,NA18498,NA18499,NA18501,NA18502,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18562,NA18573,NA18608,NA18856,NA18858,NA18870,NA18907,NA18909,NA18912,NA19102,NA19116,NA19143,NA19190,NA19210,NA19238,NA19257 nsv506986 1 237935669 237941669 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619265 S 4 1 0 CHRM3 NA10860 esv2376547 1 237962034 237962752 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769218 S 1 0 1 CHRM3 NA18507 esv1778820 1 237962746 237962746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773431 S 2 1 0 CHRM3 HuRef esv35011 1 237974043 238365582 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990377,essv6979532,essv6979531,essv6979530,essv6986880 M 771 1 0 CHRM3,FMN2,RPS7P5 NA18566 essv4530 1 237974043 238374770 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CHRM3,FMN2,RPS7P5 NA18566 dgv553n71 1 237979661 238369945 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873353,nsv873354 M 6533 3 0 CHRM3,FMN2,RPS7P5 SP54625,SP54673,SP58316 nsv827531 1 237981368 238366829 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435704 S 31 1 0 CHRM3,FMN2,RPS7P5 NA18566 nsv873355 1 238001164 238273608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520911 S 6533 1 0 CHRM3,RPS7P5 SP51300 nsv519393 1 238028625 238257211 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696830 S 2026 1 0 CHRM3,RPS7P5 esv5899 1 238068549 238068615 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28340 S 1 1 0 CHRM3 SJK nsv5065 1 238074442 238076721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1797 S 9 1 0 CHRM3 NA18555 nsv508067 1 238076903 238082903 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621491,nssv624236,nssv622307,nssv618526 M 4 0 4 CHRM3 CHM,NA10860,NA15510,NA18994 nsv873356 1 238106463 238143231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530345 S 6533 1 0 CHRM3 MS10296 esv9443 1 238169959 238226310 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31884 S 1 0 0 "" SJK esv2519244 1 238182420 238183515 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350633 S 1 1 0 "" NA18507 esv2620874 1 238182583 238183492 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192765 S 1 0 0 "" NA18507 esv3624 1 238182736 238182962 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26065 S 1 0 0 Single Asian sample YH "" YH esv6173 1 238182986 238183134 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28614 S 1 0 0 "" SJK esv2261321 1 238189157 238189585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511711 S 1 0 1 "" NA18507 esv1117084 1 238189329 238189385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817385 S 2 0 1 "" HuRef esv1413371 1 238205084 238205388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697058 S 2 0 1 "" HuRef nsv873357 1 238228344 238250572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557452,nssv1534631 M 6533 0 2 RPS7P5 MS11703,MS22705 nsv519885 1 238237831 238240914 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697104 S 2026 1 0 RPS7P5 nsv827542 1 238242958 238243473 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434229 S 31 1 0 RPS7P5 NA18570 nsv827553 1 238245511 238246357 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423975 S 31 1 0 "" NA18968 esv2164746 1 238271140 238271561 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993727 S 1 0 1 "" NA18507 esv25531 1 238285940 238291665 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12491 S 451 0 1 "" NA19129 nsv8979 1 238288314 238291671 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27395 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 dgv32n21 1 238291377 238292083 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520537,nsv523248 M 2026 0 2 "" nsv873358 1 238291377 238369945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520912 S 6533 1 0 FMN2 SP51300 esv1922446 1 238369014 238369477 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693144 S 1 0 1 FMN2 NA18507 nsv159120 1 238382242 238384030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177698 M 24 FMN2 nsv873359 1 238403476 238504494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530346 S 6533 1 0 FMN2 MS10296 nsv509713 1 238413753 238429832 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621114,nssv623817 M 4 2 0 FMN2 NA15510,NA18994 nsv499240 1 238414956 238415042 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586173 S 9 1 0 FMN2 esv1641435 1 238415127 238415127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831569 S 2 1 0 FMN2 HuRef nsv520710 1 238420692 238424260 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687996,nssv674381 M 2026 2 0 FMN2 nsv821622 1 238429482 238461503 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421224 S 31 0 1 FMN2 esv1783439 1 238437863 238437863 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690168 S 2 1 0 FMN2 HuRef esv988900 1 238458127 238463308 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565623 S 3 0 1 FMN2 HuRef nsv511745 1 238458699 238461443 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626391 S 1 0 1 FMN2 1 esv2655283 1 238459114 238462341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215453 S 1 0 1 FMN2 NA18507 nsv8992 1 238459333 238461770 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28303,nssv27416,nssv27507,nssv25726,nssv25457,nssv24003,nssv23381,nssv24903,nssv26182,nssv21770,nssv27011,nssv28110,nssv23065,nssv27623,nssv25962,nssv23072,nssv23061,nssv23996,nssv22105,nssv25449,nssv21088 M 31 0 21 Samples from several populations that are part of the HapMap project. FMN2 NA10839,NA10847,NA12155,NA12740,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2413252 1 238459445 238461567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532482 S 1 0 1 FMN2 NA18507 esv6586 1 238459605 238461408 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29027 S 1 0 1 FMN2 SJK dgv112n67 1 238459681 238461392 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827575,nsv827564 M 31 0 11 FMN2 AK12,AK14,AK20,AK4,NA18526,NA18537,NA18542,NA18552,NA18582,NA18942,NA18969 dgv12e180 1 238459681 238461517 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010156,esv1008576 M 3 0 1 FMN2 HuRef esv28231 1 238459885 238461481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14223 S 451 0 25 FMN2 NA07037,NA07045,NA11931,NA11995,NA12239,NA12287,NA12828,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv2421851 1 238460638 238461003 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5093597,essv5069233,essv5136909,essv5131991,essv5078075,essv5107701,essv5158727,essv5155865,essv5054100,essv5030421,essv5156089,essv5073646,essv5142306,essv5159096,essv5026512,essv5148513,essv5008238,essv5022975,essv5027866,essv5143624,essv5007717,essv5062605,essv5048880,essv5014602,essv5157172,essv5104175,essv5060727,essv5159685,essv5102353,essv5147782,essv5029064,essv5076819,essv5074953,essv5135811,essv5141701,essv5099197,essv5127651,essv5082506,essv5004443,essv5026277,essv5083909,essv5066327,essv5050372,essv5029453,essv5063091,essv5065831,essv5095373,essv5078409,essv5070511,essv5044481,essv5016600,essv5030506,essv5145272,essv5149223,essv5100333,essv5013559,essv5025992,essv5100159,essv5077616,essv5047446,essv5138831,essv5057434,essv5141862,essv5147556,essv5083749,essv5013225,essv5145859,essv5020952,essv5014357,essv5014617,essv5054911,essv5132790,essv5074442,essv5027273,essv5027054,essv5076882,essv5074103,essv5084396,essv5090924,essv5085015,essv5134242,essv5069598,essv5080547,essv5100858,essv5088321,essv5098536,essv5156723,essv5118331,essv5031783,essv5055632,essv5057373,essv5040298,essv5016201,essv5034975,essv5148965,essv5039252,essv5082018,essv5046856,essv5066931,essv5044473,essv5095151,essv5085174,essv5127194,essv5047077,essv5126324,essv5123862,essv5143170,essv5089855,essv5037127,essv5028246,essv5060846,essv5025412,essv5074767,essv5013818,essv5013079,essv5117678,essv5066418,essv5051926,essv5089051,essv5136084,essv5116478,essv5008044,essv5119380,essv5114415,essv5013387,essv5092697,essv5030399,essv5007621,essv5130066,essv5085955,essv5122814,essv5022886,essv5153868,essv5007548,essv5127326,essv5049520,essv5150437,essv5070328,essv5014522,essv5047757,essv5030606,essv5039025,essv5064544,essv5135701,essv5134656,essv5011816,essv5096594,essv5017851,essv5107409,essv5118744,essv5105211,essv5142302,essv5065670,essv5141675,essv5138111,essv5125917,essv5139244,essv5129383,essv5136924,essv5119979,essv5158472,essv5055959,essv5024144,essv5059426,essv5148516,essv5138406,essv5066036,essv5104193,essv5154074,essv5082604,essv5010660,essv5095066,essv5151476,essv5084753,essv5128090,essv5108412,essv5153094,essv5082552,essv5159620,essv5103339,essv5013398,essv5067783,essv5095222,essv5155058,essv5006280,essv5120467,essv5059803,essv5127568,essv5072399,essv5048062,essv5105364,essv5061912,essv5050299,essv5107875,essv5080140,essv5104817,essv5095304,essv5094858,essv5053639,essv5127463,essv5005700,essv5073626,essv5146810,essv5154488,essv5049500,essv5086704,essv5125528,essv5093542,essv5132966,essv5064521,essv5116674,essv5078726,essv5016863,essv5055337,essv5058780,essv5036303,essv5083034,essv5130618,essv5132989,essv5028245,essv5118258,essv5014881,essv5032269,essv5085497,essv5141774,essv5030300,essv5026222,essv5119427,essv5154803,essv5038178,essv5088864,essv5152971,essv5160777,essv5077768,essv5085048,essv5023012,essv5111606,essv5141389,essv5033973,essv5156590,essv5122879,essv5144947,essv5159920,essv5084242,essv5087220,essv5086306,essv5076172,essv5157014,essv5105737,essv5144554,essv5036718,essv5079044,essv5030129,essv5032453,essv5131602,essv5100357,essv5148216,essv5099875,essv5038089,essv5114980,essv5014265,essv5090175,essv5129432,essv5005338,essv5055048,essv5020313,essv5065541,essv5088085,essv5070093,essv5052504,essv5029828,essv5148488,essv5094457,essv5010365,essv5130207,essv5010145,essv5142559,essv5014095,essv5105531,essv5019247,essv5131518,essv5120434,essv5077763,essv5085093,essv5134248,essv5055598,essv5120584,essv5067658,essv5054402,essv5123413,essv5008174,essv5096061,essv5121462,essv5063364,essv5051444,essv5099871,essv5032950,essv5122048,essv5107873,essv5035721,essv5076479,essv5042893,essv5010874,essv5092547,essv5025637,essv5042581,essv5111360,essv5033535,essv5144746,essv5118579,essv5060506,essv5118402,essv5019747,essv5113528,essv5129905,essv5093451,essv5143865,essv5032730,essv5054986,essv5104098,essv5150480,essv5111235,essv5139574,essv5124724,essv5142954,essv5080687,essv5079095,essv5034213,essv5024122,essv5089231,essv5129679,essv5033940,essv5144984,essv5047762,essv5141497,essv5110746,essv5083928,essv5010348,essv5096550,essv5006831,essv5107012,essv5102083,essv5080959,essv5015977,essv5129330,essv5143179,essv5078249,essv5022384,essv5019884,essv5067388,essv5020706,essv5103854,essv5072019,essv5034093,essv5137291,essv5070229,essv5109256,essv5116246,essv5048696,essv5130490,essv5123173,essv5083927,essv5150423,essv5013233,essv5037204,essv5066791,essv5044847,essv5147096,essv5020636,essv5003980,essv5151182,essv5044976,essv5054563,essv5010092,essv5033583,essv5058919,essv5092176,essv5147709,essv5160905,essv5153775,essv5046408,essv5159319,essv5135107,essv5160411,essv5125288,essv5004811,essv5160985,essv5016267,essv5011699,essv5151872,essv5128426,essv5141521,essv5099832,essv5007924,essv5150909,essv5161044,essv5081623,essv5062422,essv5018465,essv5160707,essv5154441,essv5128042,essv5013101,essv5045483,essv5013434,essv5150768,essv5122490,essv5115562,essv5083214,essv5013758,essv5103600,essv5101560,essv5070010,essv5073378,essv5052476,essv5003916,essv5110936,essv5118595,essv5110207,essv5008135,essv5004593,essv5160900,essv5029730,essv5003877,essv5091849,essv5076591,essv5054724,essv5049831,essv5098260,essv5110580,essv5025242,essv5025772,essv5044414,essv5061214,essv5115775,essv5050716,essv5078939,essv5115521,essv5020390,essv5097796,essv5106286,essv5134991,essv5046717,essv5075026,essv5089625,essv5059366,essv5019088,essv5034302,essv5134612,essv5057447,essv5022413,essv5153580,essv5076826,essv5147439,essv5007229,essv5015333,essv5005504,essv5106108,essv5147098,essv5099413,essv5091787,essv5082600,essv5132822,essv5140072,essv5073542,essv5091717,essv5009260,essv5077277,essv5037268,essv5050561,essv5140982,essv5009868,essv5113617,essv5083684,essv5064683,essv5058454,essv5034519,essv5073688,essv5084566,essv5134036,essv5132479,essv5051131,essv5058364,essv5007047,essv5120717,essv5036677,essv5064702,essv5125473,essv5152625,essv5081658,essv5074390,essv5054078,essv5100160,essv5047745,essv5050915,essv5116054,essv5029313,essv5062025,essv5123503,essv5097171,essv5057321,essv5077322,essv5012633,essv5098996,essv5004948,essv5017131,essv5149885,essv5107442,essv5092432,essv5094710,essv5136601,essv5142422,essv5014895,essv5140744,essv5158142,essv5137161,essv5046096,essv5151191,essv5080224,essv5020073,essv5017650,essv5141328,essv5002288,essv5082826,essv5062764,essv5045002,essv5003975,essv5012525,essv5007426,essv5082500,essv5062711,essv5091632,essv5118326,essv5090813,essv5129466,essv5044911,essv5093093,essv5042574,essv5055304,essv5151934,essv5081762,essv5060921,essv5117046,essv5109754,essv5053459,essv5080609,essv5052457,essv5045231,essv5023381,essv5085098,essv5009608,essv5078883,essv5095174,essv5144604,essv5045702,essv5122945,essv5079812,essv5021113,essv5126180,essv5117689,essv5071696,essv5034542,essv5052482,essv5085470,essv5018011,essv5089158,essv5041211,essv5061309,essv5118178,essv5091815,essv5025706,essv5097730,essv5112487,essv5096418,essv5019178,essv5032169,essv5065229,essv5079828,essv5128294,essv5083741,essv5122812,essv5054863,essv5133077,essv5127572,essv5108828,essv5098907,essv5062570,essv5007192,essv5096862,essv5006414,essv5011700,essv5117856,essv5110014,essv5153916,essv5069164,essv5043280,essv5102784,essv5133993,essv5135717,essv5121221,essv5038802,essv5123497,essv5160594,essv5084692,essv5127583,essv5043571,essv5002832,essv5015013,essv5076656,essv5101252,essv5003676,essv5148523,essv5077778,essv5112962,essv5136769,essv5014953,essv5149592,essv5081333,essv5020208,essv5084881,essv5086910,essv5086816,essv5152874,essv5073571,essv5085614,essv5065577,essv5145110,essv5059618,essv5139251,essv5138634,essv5094823,essv5114778,essv5022930,essv5097435,essv5022924,essv5056970,essv5066877,essv5044885,essv5115893,essv5104933,essv5037822,essv5075761,essv5115801,essv5062176,essv5129537,essv5138094,essv5049595,essv5140936,essv5108934,essv5105063,essv5114519,essv5036598,essv5108609,essv5117542,essv5065218,essv5004713,essv5085324,essv5041952,essv5062920,essv5046033,essv5057792,essv5135816,essv5092967,essv5073169,essv5136612,essv5019506,essv5002430,essv5074177,essv5061742,essv5004024,essv5140598,essv5050291,essv5046986,essv5064219,essv5080564,essv5056255,essv5053454,essv5070581,essv5149468,essv5019587,essv5111050,essv5115489,essv5057228,essv5150663,essv5044125,essv5112550,essv5090950,essv5129046,essv5009082,essv5126395,essv5160448,essv5004769,essv5153752,essv5036121,essv5073006,essv5032876,essv5054677,essv5017638,essv5143835,essv5022295,essv5065153,essv5078969,essv5158536,essv5095567,essv5055444,essv5041776,essv5097799,essv5042227,essv5050845,essv5064605,essv5083207,essv5084698,essv5135093,essv5147995,essv5078086,essv5142855,essv5009183,essv5140500,essv5115502,essv5108713,essv5086449,essv5064050,essv5083689 M 1184 0 723 FMN2 NA06984,NA06986,NA06995,NA06997,NA07022,NA07037,NA07045,NA07055,NA07345,NA07346,NA07347,NA07349,NA07435,NA10830,NA10831,NA10835,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10864,NA11832,NA11839,NA11882,NA11893,NA11894,NA11920,NA11930,NA11931,NA11995,NA12003,NA12005,NA12043,NA12045,NA12056,NA12057,NA12144,NA12145,NA12155,NA12239,NA12248,NA12249,NA12264,NA12273,NA12275,NA12282,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12348,NA12386,NA12399,NA12400,NA12707,NA12708,NA12716,NA12739,NA12740,NA12748,NA12750,NA12752,NA12760,NA12762,NA12777,NA12801,NA12812,NA12813,NA12815,NA12817,NA12818,NA12828,NA12830,NA12842,NA12872,NA12873,NA12890,NA12892,NA17962,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17975,NA17977,NA17980,NA17981,NA17982,NA17988,NA17989,NA17996,NA17997,NA17999,NA18102,NA18106,NA18108,NA18117,NA18120,NA18125,NA18127,NA18128,NA18129,NA18132,NA18133,NA18135,NA18136,NA18141,NA18146,NA18148,NA18149,NA18154,NA18158,NA18159,NA18161,NA18484,NA18485,NA18486,NA18487,NA18489,NA18497,NA18498,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18544,NA18545,NA18546,NA18552,NA18561,NA18562,NA18563,NA18571,NA18572,NA18576,NA18577,NA18582,NA18594,NA18595,NA18597,NA18599,NA18603,NA18605,NA18608,NA18610,NA18611,NA18612,NA18613,NA18615,NA18616,NA18620,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18704,NA18740,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18861,NA18862,NA18863,NA18867,NA18869,NA18870,NA18871,NA18872,NA18874,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18944,NA18945,NA18948,NA18952,NA18953,NA18954,NA18960,NA18961,NA18962,NA18964,NA18967,NA18969,NA18970,NA18971,NA18972,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18998,NA18999,NA19000,NA19001,NA19002,NA19007,NA19027,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19055,NA19056,NA19060,NA19062,NA19063,NA19065,NA19066,NA19067,NA19070,NA19075,NA19076,NA19078,NA19080,NA19081,NA19083,NA19086,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19116,NA19117,NA19118,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19147,NA19149,NA19150,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19176,NA19178,NA19179,NA19180,NA19183,NA19184,NA19185,NA19186,NA19189,NA19191,NA19192,NA19193,NA19194,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19224,NA19225,NA19226,NA19235,NA19238,NA19239,NA19240,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19318,NA19319,NA19324,NA19327,NA19328,NA19334,NA19347,NA19359,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19393,NA19394,NA19397,NA19398,NA19399,NA19403,NA19404,NA19429,NA19430,NA19434,NA19435,NA19437,NA19438,NA19443,NA19444,NA19445,NA19448,NA19449,NA19456,NA19457,NA19462,NA19463,NA19467,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19651,NA19653,NA19657,NA19660,NA19665,NA19671,NA19675,NA19679,NA19683,NA19686,NA19700,NA19711,NA19712,NA19716,NA19718,NA19719,NA19720,NA19722,NA19723,NA19724,NA19725,NA19727,NA19747,NA19748,NA19749,NA19751,NA19756,NA19757,NA19770,NA19773,NA19794,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19919,NA19982,NA19983,NA19985,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20336,NA20341,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20359,NA20363,NA20364,NA20502,NA20510,NA20515,NA20522,NA20525,NA20529,NA20535,NA20539,NA20582,NA20756,NA20757,NA20758,NA20759,NA20768,NA20769,NA20770,NA20771,NA20783,NA20792,NA20803,NA20805,NA20806,NA20809,NA20810,NA20818,NA20826,NA20828,NA20846,NA20849,NA20850,NA20854,NA20858,NA20861,NA20866,NA20869,NA20871,NA20873,NA20875,NA20876,NA20877,NA20879,NA20881,NA20883,NA20884,NA20888,NA20891,NA20895,NA20896,NA20898,NA20899,NA20901,NA20902,NA20907,NA20911,NA21088,NA21090,NA21097,NA21099,NA21105,NA21106,NA21109,NA21111,NA21115,NA21116,NA21117,NA21118,NA21123,NA21137,NA21141,NA21295,NA21297,NA21300,NA21301,NA21302,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21333,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21363,NA21367,NA21370,NA21371,NA21378,NA21379,NA21381,NA21384,NA21385,NA21386,NA21387,NA21388,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21408,NA21414,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21477,NA21479,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21512,NA21513,NA21514,NA21519,NA21520,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21573,NA21574,NA21576,NA21577,NA21578,NA21582,NA21596,NA21597,NA21599,NA21600,NA21608,NA21613,NA21614,NA21616,NA21617,NA21619,NA21620,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21717,NA21718,NA21719,NA21722,NA21723,NA21739,NA21768,NA21776,NA21784,NA21825,NA21826 esv2421638 1 238460638 238461502 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5020165,essv5068140,essv5012083,essv5021073,essv5141750,essv5118491,essv5146646,essv5133884,essv5054982,essv5150366,essv5012179,essv5064608,essv5080531,essv5125143,essv5121880,essv5029524,essv5088077,essv5043138,essv5121333,essv5156036,essv5042981,essv5039803,essv5101416,essv5097626,essv5128140,essv5020948,essv5009062,essv5092543,essv5026327,essv5028612,essv5044798,essv5073814,essv5130179,essv5040186,essv5095890,essv5145478,essv5109196,essv5137167,essv5099810,essv5014498,essv5073608,essv5156566,essv5160813,essv5136192,essv5037241,essv5141986,essv5062357,essv5081638,essv5072843,essv5017005,essv5124187,essv5086319,essv5101291,essv5142150,essv5065624,essv5115612,essv5141277,essv5079481,essv5087278,essv5142731,essv5043285,essv5063831,essv5085898,essv5076053,essv5118537,essv5159461,essv5045130,essv5141296,essv5143239,essv5115245,essv5013012,essv5077315,essv5076976,essv5003440,essv5091214,essv5099000,essv5057442,essv5049447,essv5147710,essv5050661,essv5060160,essv5155783,essv5069000,essv5130061,essv5106651,essv5095499,essv5129139,essv5158898,essv5071086,essv5073236,essv5158773,essv5020120,essv5068121,essv5102345,essv5074369,essv5104152,essv5104789,essv5022959,essv5078798,essv5074200,essv5071519,essv5121093,essv5092391,essv5025568,essv5088777,essv5059465,essv5140992,essv5076358,essv5043566,essv5075345,essv5119593,essv5104444,essv5053629,essv5016539,essv5069002,essv5050879,essv5045187,essv5082248,essv5046462,essv5012422,essv5071037,essv5144078,essv5056153,essv5106840,essv5104785,essv5043131,essv5109200,essv5052429,essv5110008,essv5158441,essv5061788,essv5050524,essv5146177,essv5050024,essv5155063,essv5004159,essv5013157,essv5015744,essv5127331,essv5139891,essv5144631,essv5122602,essv5010406,essv5136223,essv5088641,essv5012728,essv5055973,essv5065774,essv5012635,essv5091900,essv5121996,essv5042582,essv5119220,essv5024568,essv5087398,essv5002154,essv5020539,essv5074795,essv5158039,essv5140485,essv5065895,essv5125330,essv5103993,essv5020307,essv5084372,essv5040251,essv5009676,essv5115699,essv5034790,essv5005117,essv5033858,essv5113012,essv5148960,essv5121519,essv5032117,essv5060152,essv5139883,essv5096651,essv5018325,essv5125554,essv5103427,essv5133389,essv5149257,essv5123216,essv5076827,essv5147544,essv5029469,essv5157904,essv5135796,essv5078801,essv5144993,essv5120316,essv5103458,essv5032402,essv5011502,essv5057366,essv5104006,essv5141161,essv5071731,essv5111931,essv5042095,essv5065502,essv5014574,essv5104322,essv5026967,essv5062369,essv5036269,essv5110758,essv5124798,essv5036161,essv5058631,essv5079157,essv5097531,essv5072042,essv5154017,essv5084641,essv5108771,essv5086567,essv5043203,essv5048665,essv5157386,essv5033475,essv5019160,essv5101696,essv5027259,essv5032784,essv5008303,essv5047424,essv5134463,essv5149466,essv5153091,essv5029607,essv5133403,essv5046443,essv5042144,essv5090101,essv5161225,essv5048710,essv5061014,essv5063476,essv5086808,essv5034256,essv5076161,essv5120196,essv5105587,essv5121765,essv5017917,essv5105907,essv5107806,essv5071959,essv5028856,essv5004149,essv5052221,essv5068947,essv5013765,essv5022308,essv5092595,essv5095076,essv5090558,essv5054577,essv5055062,essv5018211,essv5022214,essv5038208,essv5024869,essv5016184,essv5142366,essv5035337,essv5019513,essv5010164,essv5020516,essv5101465,essv5037066,essv5088702,essv5138822,essv5150716,essv5053179,essv5027153,essv5087634,essv5092275,essv5033528,essv5070320,essv5022076,essv5057909,essv5075737,essv5087588,essv5020025,essv5114787,essv5033500,essv5087183,essv5058052,essv5133052,essv5125407,essv5093904,essv5080459,essv5097464,essv5044346,essv5092507,essv5154052,essv5046890,essv5133216,essv5073398,essv5073017,essv5069709,essv5075439,essv5046063,essv5046571,essv5101313,essv5111614,essv5019287,essv5083819,essv5030373,essv5102073,essv5078961,essv5040553,essv5119446,essv5008508,essv5136834,essv5149188,essv5065741,essv5093564,essv5004729,essv5013243,essv5027174,essv5009592,essv5027402,essv5056041,essv5051797,essv5113262,essv5014122,essv5046684,essv5118680,essv5108452,essv5144299,essv5124859,essv5042519,essv5136790,essv5020067,essv5018743,essv5057422,essv5154271,essv5128652,essv5118462,essv5066727,essv5082428,essv5019595,essv5002632,essv5112492,essv5147816,essv5031312,essv5131205,essv5156025,essv5133746,essv5012918,essv5060423,essv5117638,essv5121128,essv5046303,essv5029973,essv5129590,essv5003832,essv5095698,essv5053939,essv5150117,essv5015495,essv5054950,essv5064460,essv5153468,essv5119497,essv5055184,essv5106111,essv5100286,essv5135444,essv5022806,essv5045220,essv5045322,essv5149695,essv5119817,essv5081991,essv5142327,essv5051427,essv5117863,essv5048353,essv5048377,essv5093191,essv5039710,essv5159332,essv5043452,essv5096633,essv5037648,essv5151818,essv5107377,essv5087396,essv5075007,essv5076775,essv5024865,essv5054412,essv5091604,essv5045180,essv5127066,essv5100994,essv5094176,essv5062088,essv5033937,essv5132957,essv5014442,essv5108151,essv5042021,essv5129684,essv5136695,essv5063475,essv5147547,essv5130222,essv5041797,essv5107269,essv5092382,essv5092263,essv5123447,essv5073155,essv5090482,essv5104230,essv5050356,essv5129357,essv5051378,essv5148800,essv5050641,essv5155265,essv5013988,essv5085339,essv5072230,essv5159967,essv5137769,essv5062457,essv5023793,essv5139427,essv5150102,essv5100817,essv5118509,essv5099046,essv5096685,essv5085501,essv5072115,essv5038623,essv5114802,essv5041147,essv5029338,essv5097449,essv5007361,essv5013589,essv5100890,essv5158524,essv5137268,essv5155386,essv5093797,essv5082467,essv5068029,essv5072347,essv5117160,essv5050800,essv5144805,essv5133509,essv5037251,essv5015868,essv5056479,essv5097040,essv5036824,essv5066644,essv5079608,essv5107908,essv5096000,essv5159672,essv5106429,essv5085924,essv5035578,essv5012775,essv5084582,essv5013242,essv5103732,essv5072971,essv5133801,essv5126196,essv5024558,essv5049453,essv5061548,essv5068578,essv5053489,essv5133687,essv5132345,essv5061290,essv5136056,essv5120446,essv5069974,essv5065112,essv5097917,essv5132178,essv5112261,essv5018309,essv5062022,essv5058989,essv5009129,essv5150114,essv5066856,essv5013020,essv5125259,essv5021203,essv5105178,essv5051508,essv5043153,essv5151461,essv5145169,essv5130465,essv5133607,essv5012686,essv5155626,essv5066316,essv5095941,essv5013516,essv5104249,essv5097580,essv5160948,essv5148576,essv5022334,essv5070811,essv5120380,essv5011179,essv5161165,essv5129984,essv5085677,essv5007960,essv5107188,essv5071796,essv5058803,essv5044214,essv5062486,essv5090991,essv5053462,essv5049661,essv5119598,essv5046091,essv5053494,essv5140672,essv5079228,essv5043190,essv5112786,essv5082957,essv5056938,essv5141083,essv5031245,essv5034072,essv5139632,essv5080557,essv5007248,essv5041439,essv5107351,essv5088930,essv5081512,essv5108752,essv5036382,essv5108331,essv5058373,essv5051380,essv5061425,essv5018500,essv5137239,essv5021719,essv5077527,essv5156198,essv5052201,essv5111035,essv5008420,essv5043268,essv5055894,essv5069771,essv5028705,essv5090843,essv5133147,essv5057249,essv5017328,essv5022976,essv5028216,essv5010458,essv5053936,essv5102898,essv5006526,essv5089735,essv5021127,essv5085199,essv5010990,essv5027805,essv5120464,essv5075250,essv5133210,essv5015011,essv5125319,essv5035259,essv5125040,essv5067903,essv5009046,essv5031727,essv5112302,essv5108227,essv5110015,essv5148934,essv5025363,essv5002348,essv5081065,essv5044190,essv5077699,essv5070666,essv5079237,essv5147962,essv5036388,essv5045598,essv5128566,essv5135088,essv5008199,essv5011907,essv5159741,essv5029245,essv5125875,essv5111190,essv5063980,essv5108092,essv5098892,essv5031715,essv5059671,essv5135905,essv5047428,essv5133896,essv5156957,essv5132109,essv5003699,essv5043136,essv5037026,essv5022486,essv5037927,essv5004532,essv5101012,essv5125157,essv5147543,essv5044727,essv5144603,essv5116912,essv5134519,essv5066291,essv5015041,essv5152896,essv5146311,essv5122287,essv5085450,essv5075146,essv5005141,essv5058931,essv5047586,essv5109711,essv5080871,essv5031166,essv5140028,essv5030483,essv5009498,essv5150129,essv5070843,essv5002570,essv5031739,essv5077054,essv5036148,essv5134082,essv5020473,essv5048290,essv5140206,essv5022202,essv5010197,essv5129037,essv5006848,essv5082275,essv5153510,essv5042089,essv5121447,essv5147172,essv5005514,essv5023345,essv5087596,essv5115413,essv5126584,essv5069293,essv5030581,essv5098659,essv5093013,essv5033365,essv5159909 M 1184 0 690 FMN2 NA06986,NA06995,NA06997,NA07022,NA07037,NA07045,NA07345,NA07346,NA07347,NA07349,NA07435,NA10830,NA10831,NA10835,NA10838,NA10839,NA10840,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10864,NA11832,NA11839,NA11882,NA11893,NA11894,NA11920,NA11931,NA11995,NA12003,NA12005,NA12043,NA12045,NA12056,NA12057,NA12144,NA12155,NA12239,NA12248,NA12249,NA12264,NA12282,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12348,NA12386,NA12399,NA12400,NA12707,NA12708,NA12716,NA12739,NA12740,NA12748,NA12750,NA12752,NA12760,NA12762,NA12777,NA12801,NA12812,NA12813,NA12815,NA12817,NA12818,NA12828,NA12830,NA12843,NA12872,NA12873,NA12890,NA12892,NA17966,NA17967,NA17968,NA17969,NA17975,NA17980,NA17981,NA17982,NA17988,NA17989,NA17996,NA17997,NA18102,NA18106,NA18108,NA18117,NA18120,NA18125,NA18127,NA18128,NA18129,NA18132,NA18133,NA18135,NA18136,NA18141,NA18146,NA18148,NA18149,NA18154,NA18158,NA18159,NA18484,NA18485,NA18486,NA18487,NA18489,NA18498,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18544,NA18545,NA18546,NA18552,NA18561,NA18562,NA18563,NA18571,NA18572,NA18576,NA18577,NA18582,NA18594,NA18595,NA18597,NA18599,NA18603,NA18605,NA18610,NA18611,NA18612,NA18613,NA18615,NA18616,NA18620,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18704,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18861,NA18862,NA18863,NA18867,NA18869,NA18870,NA18871,NA18872,NA18874,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18944,NA18948,NA18952,NA18953,NA18954,NA18960,NA18961,NA18962,NA18964,NA18967,NA18969,NA18970,NA18971,NA18972,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18998,NA18999,NA19000,NA19001,NA19002,NA19007,NA19027,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19055,NA19060,NA19062,NA19063,NA19065,NA19066,NA19067,NA19070,NA19075,NA19076,NA19078,NA19080,NA19081,NA19083,NA19086,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19120,NA19121,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19147,NA19149,NA19150,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19176,NA19178,NA19180,NA19183,NA19184,NA19185,NA19186,NA19189,NA19191,NA19192,NA19193,NA19194,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19224,NA19225,NA19226,NA19235,NA19238,NA19239,NA19240,NA19257,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19318,NA19319,NA19324,NA19327,NA19328,NA19334,NA19347,NA19359,NA19371,NA19372,NA19373,NA19374,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19393,NA19394,NA19397,NA19399,NA19403,NA19404,NA19430,NA19434,NA19435,NA19437,NA19438,NA19443,NA19444,NA19445,NA19448,NA19449,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19651,NA19653,NA19660,NA19670,NA19679,NA19686,NA19700,NA19712,NA19713,NA19716,NA19718,NA19719,NA19720,NA19722,NA19723,NA19724,NA19725,NA19727,NA19747,NA19748,NA19749,NA19751,NA19756,NA19757,NA19770,NA19773,NA19775,NA19794,NA19795,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19919,NA19982,NA19983,NA19985,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20336,NA20341,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20363,NA20364,NA20502,NA20510,NA20515,NA20522,NA20525,NA20529,NA20535,NA20539,NA20582,NA20756,NA20757,NA20758,NA20759,NA20768,NA20769,NA20770,NA20771,NA20783,NA20790,NA20792,NA20799,NA20803,NA20805,NA20806,NA20809,NA20810,NA20818,NA20826,NA20846,NA20849,NA20850,NA20854,NA20858,NA20861,NA20866,NA20869,NA20871,NA20873,NA20875,NA20876,NA20877,NA20879,NA20881,NA20883,NA20884,NA20888,NA20891,NA20895,NA20896,NA20898,NA20899,NA20901,NA20902,NA20907,NA20911,NA21088,NA21090,NA21097,NA21105,NA21106,NA21109,NA21111,NA21115,NA21116,NA21117,NA21118,NA21123,NA21137,NA21141,NA21295,NA21297,NA21300,NA21301,NA21302,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21333,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21363,NA21367,NA21370,NA21371,NA21378,NA21379,NA21381,NA21384,NA21385,NA21386,NA21387,NA21388,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21408,NA21414,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21477,NA21479,NA21480,NA21485,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21512,NA21513,NA21514,NA21519,NA21520,NA21522,NA21523,NA21524,NA21525,NA21526,NA21528,NA21573,NA21574,NA21576,NA21577,NA21578,NA21582,NA21596,NA21597,NA21599,NA21600,NA21608,NA21613,NA21614,NA21616,NA21617,NA21619,NA21620,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21717,NA21718,NA21722,NA21723,NA21739,NA21768,NA21776,NA21784,NA21825,NA21826 nsv833048 1 238523319 238687732 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441745 S 95 1 0 FMN2 nsv873360 1 238556208 238586300 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530347 S 6533 1 0 FMN2 MS10296 esv2075596 1 238594967 238595370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834023 S 1 0 1 FMN2 NA18507 nsv159151 1 238595070 238595153 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177729 M 24 FMN2 nsv873361 1 238641843 239650041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567609 S 6533 1 0 FMN2,GREM2,MIR3123,RGS7 IS31123 esv2600451 1 238683099 238684830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183179 S 1 0 1 FMN2 NA18507 esv2145928 1 238683428 238684124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831431 S 1 0 1 FMN2 NA18507 esv8951 1 238683617 238683954 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31392 S 1 0 1 FMN2 SJK nsv527343 1 238688355 238690072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703769 S 2026 0 1 FMN2 nsv506987 1 238706873 238712873 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619266 S 4 1 0 "" NA10860 esv2617307 1 238707266 238708833 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282886 S 1 0 1 "" NA18507 esv2018063 1 238707752 238708389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618654 S 1 0 1 "" NA18507 esv1227686 1 238707835 238708237 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706267 S 2 0 1 "" HuRef esv993179 1 238708742 238709285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564753 S 3 0 1 "" HuRef esv2178515 1 238766373 238766803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536985 S 1 0 1 GREM2 NA18507 esv1001491 1 238766489 238766489 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582947 S 3 1 0 GREM2 HuRef nsv873362 1 238772730 238809528 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530348 S 6533 1 0 GREM2 MS10296 esv2304550 1 238775208 238775615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913129 S 1 0 1 GREM2 NA18507 nsv873363 1 238775759 238829389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590276 S 6533 0 1 GREM2 IS38484 nsv523917 1 238778543 238811407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699760 S 2026 0 1 GREM2 esv1005597 1 238804789 238805743 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579016 S 3 0 1 GREM2 HuRef nsv470786 1 238912747 239023472 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544425 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RGS7 HGDP00950 nsv468650 1 238912747 239034050 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543741 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RGS7 HGDP00950 nsv516512 1 239001460 239001756 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668770,nssv660466 M 2026 0 2 "" esv1049013 1 239008024 239008024 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685711 S 2 1 0 RGS7 HuRef esv2630353 1 239048241 239049671 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336609 S 1 0 1 RGS7 NA18507 nsv873364 1 239070097 239149611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530349 S 6533 1 0 RGS7 MS10296 nsv468661 1 239093681 239236773 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543752 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RGS7 HGDP00950 nsv873365 1 239185964 239226471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530350 S 6533 1 0 RGS7 MS10296 nsv827587 1 239200113 239200769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440880 S 31 0 1 RGS7 NA18969 nsv470787 1 239205774 239231293 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544426 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RGS7 HGDP00950 esv2543708 1 239215997 239217544 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180025 S 1 0 1 RGS7 NA18507 esv2404546 1 239216305 239217002 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806701 S 1 0 1 RGS7 NA18507 esv3159 1 239216415 239216921 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25600 S 1 0 1 Single Asian sample YH RGS7 YH esv988740 1 239216486 239216810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584956 S 3 0 1 RGS7 HuRef esv8124 1 239216494 239216803 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30565 S 1 0 1 RGS7 SJK esv1788930 1 239216496 239216821 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225434 S 2 0 1 RGS7 HuRef nsv524932 1 239218713 239230547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700945 S 2026 0 1 RGS7 esv274863 1 239251767 239255870 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585758,essv2585817 M 1250 1 1 RGS7 esv2310378 1 239252769 239253246 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559725 S 1 0 1 RGS7 NA18507 esv1003704 1 239252940 239253062 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583963 S 3 0 1 RGS7 HuRef esv259467 1 239289607 239289908 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393726,essv2394068,essv2394397 M 6 0 0 Samples from several populations that are part of the HapMap project. RGS7 NA19238,NA19239,NA19240 esv1179588 1 239298162 239298162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135846 S 2 1 0 RGS7 HuRef nsv517999 1 239353148 239507041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695410 S 2026 0 1 MIR3123,RGS7 nsv833059 1 239413412 239591758 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441747,nssv1441746 M 95 2 0 RGS7 dgv554n71 1 239417615 239437672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873367,nsv873366 M 6533 0 2 RGS7 SP52174,SP55637 nsv511746 1 239426785 239430529 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626392 S 1 0 1 RGS7 1 esv998180 1 239426870 239427719 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564557 S 3 0 1 RGS7 HuRef esv2194065 1 239426968 239427677 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744132 S 1 0 1 RGS7 NA18507 esv5275 1 239427079 239427540 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27716 S 1 0 1 Single Asian sample YH RGS7 YH esv7124 1 239427170 239427540 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29565 S 1 0 1 RGS7 SJK esv1012905 1 239427176 239427491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791873 S 2 0 1 RGS7 HuRef esv271995 1 239449697 239449852 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509939,essv2506090,essv2505763,essv2506571 M 157 4 0 Samples from several populations that are part of the HapMap project. RGS7 NA18508,NA18523,NA18861,NA19108 esv275294 1 239469788 239473046 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585929,essv2585827 M 1250 1 1 RGS7 nsv827598 1 239518045 239518645 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440881 S 31 0 1 RGS7 NA18969 nsv160688 1 239556962 239557051 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179266 M 24 RGS7 nsv523209 1 239569532 239573870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698929 S 2026 0 1 RGS7 nsv873368 1 239600015 240262551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527271 S 6533 1 0 CHML,EXO1,FH,KMO,MAP1LC3C,OPN3,WDR64 SP58310 dgv555n71 1 239633348 239675242 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873370,nsv873369 M 6533 4 0 "" MS19011,SP55660,SP55842,SP56138 nsv827609 1 239651819 239652807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428080 S 31 0 1 "" AK10 esv3841 1 239652821 239653177 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26282 S 1 0 1 Single Asian sample YH "" YH esv9650 1 239652852 239653121 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32091 S 1 0 1 "" SJK nsv524187 1 239653310 239653457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700070 S 2026 0 1 "" esv28035 1 239661427 239663139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10467 S 451 0 1 "" NA18517 esv272829 1 239686681 239686864 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583224,essv2584530,essv2583833 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 nsv527805 1 239717641 239723308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704299 S 2026 0 1 "" nsv873371 1 239733867 239814461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507231 S 6533 1 0 FH,KMO SP54509 nsv873372 1 239757177 240504916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567610 S 6533 1 0 CHML,EXO1,KMO,MAP1LC3C,OPN3,PLD5,WDR64 IS31123 esv8534 1 239773096 239773217 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30975 S 1 1 0 KMO SJK nsv525983 1 239773156 239778324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702202 S 2026 0 1 KMO esv1007397 1 239844659 239844659 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583758 S 3 1 0 OPN3 HuRef esv7009 1 239844700 239844800 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29450 S 1 1 0 OPN3 SJK esv1555339 1 239844747 239844747 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965054 S 2 1 0 OPN3 HuRef nsv159993 1 239854168 239854231 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178571 M 24 OPN3 nsv528015 1 239931842 240137354 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704543 S 2026 1 0 EXO1,WDR64 esv2624301 1 239974601 239975747 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178509 S 1 1 0 WDR64 NA18507 esv271922 1 239975206 239975545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516791,essv2514093,essv2516359 M 157 3 0 Samples from several populations that are part of the HapMap project. WDR64 NA11881,NA12043,NA12814 nsv873373 1 240005692 240094123 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520619 S 6533 1 0 EXO1,WDR64 SP51179 nsv873374 1 240041770 240164247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550761 S 6533 0 1 EXO1 MS18599 esv267817 1 240071574 240071744 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510243,essv2510996 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831 dgv16e55 1 240091721 240399582 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750831,esv2750830 M 771 2 0 EXO1,MAP1LC3C,PLD5 BEC_614,BEC_74 nsv523554 1 240095724 240163174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699332 S 2026 0 1 EXO1 nsv520996 1 240147178 240156418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686800,nssv679608,nssv682669 M 2026 0 3 "" nsv827620 1 240189462 240191259 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440882 S 31 0 1 "" NA18969 nsv508068 1 240191428 240197428 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622308,nssv621492,nssv618527 M 4 0 3 "" CHM,NA10860,NA15510 nsv508703 1 240213563 240318724 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619001 S 4 0 1 MAP1LC3C,PLD5 NA10860 nsv468672 1 240267870 240622572 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543763 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLD5 HGDP00950 nsv470788 1 240267870 240622572 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544427 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLD5 HGDP00950 nsv511747 1 240286856 240296868 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626393 S 1 0 1 "" 1 nsv528016 1 240290022 240517973 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704544 S 2026 1 0 PLD5 esv1038787 1 240374075 240374075 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944129 S 2 1 0 PLD5 HuRef esv1676362 1 240374110 240374185 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147237 S 2 0 1 PLD5 HuRef esv998850 1 240378125 240378184 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564036 S 3 1 0 PLD5 HuRef nsv515604 1 240381977 240396437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664058,nssv701176,nssv687922,nssv663296,nssv680077 M 2026 0 5 PLD5 esv1979417 1 240395070 240395519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758088 S 1 0 1 PLD5 NA18507 nsv873375 1 240398912 240415225 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500523 S 6533 1 0 PLD5 SP50537 esv992990 1 240419666 240423850 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563564 S 3 1 0 PLD5 HuRef esv998142 1 240448865 240449355 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586598 S 3 1 0 PLD5 HuRef esv25405 1 240451177 240453040 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18680 S 451 1 0 PLD5 NA06985 esv2089690 1 240455320 240455647 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844036 S 1 0 1 PLD5 NA18507 nsv5077 1 240508353 240553459 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8221 S 9 0 1 PLD5 NA12156 esv1505070 1 240508631 240508817 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236023 S 2 0 1 PLD5 HuRef nsv873376 1 240549180 240630331 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530351 S 6533 1 0 PLD5 MS10296 esv270123 1 240627221 240632656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515894 S 157 1 0 Samples from several populations that are part of the HapMap project. PLD5 NA12873 nsv873377 1 240674206 241181285 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567611 S 6533 1 0 PLD5 IS31123 nsv160878 1 240674618 240674618 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179456 M 24 PLD5 esv1006418 1 240674620 240674620 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581998 S 3 1 0 PLD5 HuRef esv1110378 1 240674621 240674621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964063 S 2 1 0 PLD5 HuRef nsv5088 1 240686692 240731874 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8227 S 9 0 1 PLD5 NA12156 nsv873378 1 240721105 240789859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530352 S 6533 1 0 PLD5 MS10296 nsv159213 1 240751543 240751543 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177791 M 24 PLD5 nsv468683 1 240805706 241207722 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543774 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01215 nsv470789 1 240807646 240926303 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544428 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01215 nsv525999 1 240829588 240835403 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702225 S 2026 1 0 "" nsv519452 1 240834301 240840987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696861 S 2026 0 1 "" nsv468694 1 240864881 240891007 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543785 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00958 nsv519429 1 240874622 241404839 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696849 S 2026 1 0 CEP170,LOC731275 nsv526980 1 240902792 240908923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703352 S 2026 0 1 "" nsv5099 1 240914626 240959748 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8232 S 9 0 1 "" NA12156 nsv873379 1 240926303 240956115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521402 S 6533 0 1 "" SP52369 esv1225945 1 240926930 240927011 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867965 S 2 0 1 "" HuRef nsv470790 1 240986538 241375813 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544429 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CEP170,LOC731275 HGDP01215 esv991378 1 241021196 241051411 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586092 S 3 1 0 "" HuRef esv27772 1 241021196 241051465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12280,esv15977,esv17309 M 451 0 7 "" NA07045,NA12776,NA18505,NA19114,NA19129,NA19147,NA19190 nsv873380 1 241025978 241069812 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578301 S 6533 1 0 "" IS34750 nsv522809 1 241037619 241043956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698455 S 2026 0 1 "" nsv873381 1 241046639 241095403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557755 S 6533 0 1 "" MS22858 nsv873382 1 241101373 241186162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578302 S 6533 1 0 "" IS34750 dgv195e1 1 241103290 241232611 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2382,essv2147,essv24115,essv5765,essv20518,essv7951,essv6510 M 271 0 0 "" NA07048,NA12716,NA18540,NA18572,NA18976,NA18978,NA19203 dgv196e1 1 241103290 241347508 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12929,esv944,essv19812,essv21505 M 271 0 0 LOC731275 NA12003,NA12864,NA19094 nsv9003 1 241107180 241255045 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28353,nssv28160,nssv27405,nssv23066,nssv26187,nssv25971,nssv27141,nssv25163,nssv25183,nssv23691,nssv23371,nssv25460,nssv22435,nssv23375,nssv24283,nssv23382,nssv27731,nssv23062 M 31 0 18 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA10863,NA11830,NA12740,NA12802,NA18502,NA18517,NA18537,NA18552,NA18564,NA18942,NA18972,NA18975,NA18980,NA19132,NA19221,NA19240 esv32774 1 241108566 241534705 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101563,essv100692,essv95070,essv98148,essv94832,essv94365,essv96963,essv97797,essv95460,essv95786,essv92940,essv96006,essv93388,essv94225 M 51 14 0 CEP170,LOC731275,SDCCAG8 21603,21656,21721,21772,21791,21808,21817,21837,21847,21911,21939,22127,22170,22394 esv23865 1 241108917 241331740 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10415,esv18826,esv21383,esv13791,esv18903,esv16724,esv9990,esv10021 M 451 3 34 LOC731275 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv5110 1 241116505 241149113 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6205 S 9 1 0 "" NA12156 dgv19n17 1 241119144 241137354 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437369,nsv437380,nsv437357 M 60 0 3 "" NA07019,NA10859,NA12753 nsv438159 1 241125523 241131051 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470052,nssv469986,nssv470063,nssv470041,nssv469964,nssv470008,nssv469997,nssv470019,nssv469975,nssv470030 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA07019,NA07022,NA10856,NA10859,NA10860,NA11830,NA11881,NA11993,NA12753,NA12762 nsv437391 1 241128142 241132553 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467272 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10856 nsv873383 1 241128879 241199529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581498 S 6533 0 1 "" IS35605 dgv197e1 1 241145618 241204977 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12051,essv1580,essv5851,essv23301,essv12877,essv6783,essv14816,essv6436,essv18543,essv5645,essv1327,essv23108 M 271 0 0 "" NA11993,NA12043,NA12264,NA18502,NA18555,NA18579,NA18592,NA18594,NA18870,NA18973,NA18997,NA19238 dgv198e1 1 241145618 241218126 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10710,essv1705,essv3646,essv12129,essv13975,essv25111,essv20755,essv19325,essv19043 M 271 0 0 "" NA07034,NA07357,NA12814,NA12872,NA18508,NA18968,NA18991,NA19098,NA19173 dgv199e1 1 241145618 241232611 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv633,essv25147,essv7625,essv14033,essv1986,essv4328 M 271 0 0 "" NA11839,NA18547,NA18564,NA18862,NA18942,NA18998 dgv200e1 1 241154201 241194835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9558,essv7447 M 271 0 0 "" NA18582,NA18861 nsv518969 1 241156159 241159058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696437 S 2026 0 1 "" dgv556n71 1 241159058 241267790 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873384,nsv873385 M 6533 2 0 "" IS33864,IS41204 esv1282544 1 241181602 241181602 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131050 S 2 1 0 "" HuRef nsv873386 1 241186162 241375518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592588 S 6533 1 0 CEP170,LOC731275 IS39243 esv1205493 1 241186515 241186515 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807382 S 2 1 0 "" HuRef nsv511748 1 241193637 241196657 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626394 S 1 0 1 "" 1 nsv433351 1 241228887 241325042 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463232 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC731275 NA19240 nsv506988 1 241262726 241268726 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623297 S 4 1 0 "" NA18994 nsv873387 1 241282213 241333248 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533164 S 6533 1 0 LOC731275 MS11032 esv1442536 1 241331774 241331823 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935382 S 2 0 1 "" HuRef nsv873388 1 241363211 241460716 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512591 S 6533 1 0 CEP170 SP55558 nsv517939 1 241443380 241589529 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695351 S 2026 1 0 CEP170,MIR4677,SDCCAG8 nsv506989 1 241547156 241553156 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623298,nssv620682,nssv617553 M 4 3 0 SDCCAG8 CHM,NA15510,NA18994 nsv159918 1 241568906 241568959 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178496 M 24 SDCCAG8 esv991124 1 241568908 241568961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578558 S 3 0 1 SDCCAG8 HuRef esv1353364 1 241569015 241569069 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314233 S 2 0 1 SDCCAG8 HuRef nsv833070 1 241569734 241767426 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441748 S 95 1 0 AKT3,MIR4677,SDCCAG8 nsv873389 1 241684940 241828922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567612 S 6533 1 0 AKT3,SDCCAG8 IS31123 nsv873390 1 241699827 241724022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503781 S 6533 1 0 AKT3,SDCCAG8 SP52110 esv25013 1 241703401 241704384 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19437 S 451 0 5 SDCCAG8 NA06985,NA12828,NA15510,NA18907,NA19129 nsv820437 1 241703401 241704384 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421069 S 1 0 1 SDCCAG8 NA10851 nsv512760 1 241710724 241711539 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625390 S 1 1 0 SDCCAG8 1 esv2575701 1 241755291 241756105 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198141 S 1 1 0 AKT3 NA18507 nsv833081 1 241761059 241887674 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441749 S 95 1 0 AKT3 nsv5121 1 241814052 241858669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8247 S 9 0 1 AKT3 NA12156 esv274931 1 241826998 241833609 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586087 S 1250 0 1 AKT3 nsv833093 1 241842909 242045453 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441750 S 95 0 1 AKT3 nsv511135 1 241848467 241864422 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624599 S 1 0 1 AKT3 1 esv2606093 1 241849043 241850808 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343863 S 1 0 1 AKT3 NA18507 nsv511749 1 241849191 241850548 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626395 S 1 0 1 AKT3 1 esv2182482 1 241849208 241850552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963503 S 1 0 1 AKT3 NA18507 esv5138 1 241849280 241850608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27579 S 1 0 1 Single Asian sample YH AKT3 YH esv7595 1 241849369 241850387 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30036 S 1 0 1 AKT3 SJK esv28291 1 241849373 241850488 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19645 S 451 23 0 AKT3 NA06985,NA11931,NA12239,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv996767 1 241849373 241850488 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586291 S 3 0 1 AKT3 HuRef nsv821560 1 241849373 241850488 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421080 S 1 0 1 AKT3 NA10851 nsv873391 1 241887987 242061664 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597854 S 6533 0 1 AKT3 IS41317 nsv522102 1 241887987 242083988 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694874 S 2026 1 0 AKT3 esv275568 1 241920807 241929719 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585356 S 1250 0 1 AKT3 nsv873392 1 241926532 241983932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505543 S 6533 0 1 AKT3 SP53687 esv2648270 1 241987070 241988526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222578 S 1 0 1 AKT3 NA18507 nsv833104 1 242009371 242158921 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441753,nssv1441751 M 95 1 1 AKT3,LOC339529 nsv509724 1 242029315 242082523 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621115,nssv619831 M 4 2 0 AKT3 NA10860,NA15510 nsv5132 1 242050461 242083987 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10580,nssv3845 M 9 2 0 AKT3 NA12878,NA18956 esv990522 1 242074394 242075576 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565556 S 3 1 0 "" HuRef nsv512761 1 242209432 242209667 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625391 S 1 1 0 LOC339529 1 esv1523991 1 242209547 242209547 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664805 S 2 1 0 LOC339529 HuRef nsv5143 1 242213295 242227022 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4610 S 9 0 1 LOC339529 NA19129 nsv160658 1 242228647 242228647 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179236 M 24 LOC339529 esv1639370 1 242228715 242228715 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815933 S 2 1 0 LOC339529 HuRef nsv873393 1 242237078 242301189 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530353 S 6533 1 0 LOC339529,ZNF238 MS10296 nsv827631 1 242296663 242297758 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431879 S 31 0 1 "" AK20 esv29748 1 242353965 242354569 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19387 S 451 0 1 "" NA19114 nsv519230 1 242381483 242389010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696721 S 2026 0 1 "" esv274405 1 242397771 242398111 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580069,essv2579132 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239 nsv833115 1 242476207 242641682 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441754 S 95 1 0 ADSS,C1orf100 esv1212797 1 242493381 242493381 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938505 S 2 1 0 "" HuRef nsv522504 1 242543378 242558464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705872 S 2026 0 1 "" esv24742 1 242583567 242586158 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19967 S 451 2 0 C1orf100 NA12749,NA12878 nsv516557 1 242611441 242768123 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669142,nssv688542,nssv705662 M 2026 3 0 ADSS,C1orf100,C1orf101 nsv818866 1 242705151 242728100 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417827 S 112 1 0 C1orf101 NA18852 esv2107521 1 242812637 242813088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776669 S 1 0 1 C1orf101 NA18507 esv992950 1 242812835 242812886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576277 S 3 0 1 C1orf101 HuRef esv1291880 1 242812850 242812902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686631 S 2 0 1 C1orf101 HuRef esv24695 1 242813686 242815144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15788 S 451 0 3 C1orf101 NA18916,NA19108,NA19129 nsv528017 1 242848355 242905445 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704545 S 2026 1 0 C1orf101,PPPDE1 esv1134718 1 242850953 242851009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915137 S 2 0 1 C1orf101 HuRef nsv5154 1 242860358 242891139 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10581 S 9 1 0 C1orf101,PPPDE1 NA18956 esv2639096 1 242861796 242863262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332641 S 1 0 1 C1orf101 NA18507 nsv873394 1 242864565 242921444 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530354 S 6533 1 0 C1orf101,PPPDE1 MS10296 esv6188 1 242870975 242871034 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28629 S 1 1 0 "" SJK nsv5165 1 242921712 242953678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6213 S 9 1 0 PPPDE1 NA12156 esv1061538 1 242948609 242948609 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154024 S 2 1 0 "" HuRef nsv827642 1 242961663 242966144 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437276 S 31 0 1 "" NA18949 nsv5176 1 243028299 243060193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5059 S 9 1 0 "" NA19129 esv275279 1 243043474 243054848 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585724 S 1250 0 1 "" nsv827653 1 243121282 243130326 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437277 S 31 1 0 "" NA18949 esv22057 1 243124604 243263523 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14367 S 451 0 1 EFCAB2 NA12776 esv2253871 1 243144015 243144489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506427 S 1 0 1 "" NA18507 esv1024607 1 243171365 243171365 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339372 S 2 1 0 "" HuRef nsv873395 1 243176484 243411732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594080 S 6533 1 0 EFCAB2,KIF26B IS39680 nsv5188 1 243192473 243224210 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5065 S 9 1 0 EFCAB2 NA19129 nsv827664 1 243239502 243244684 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428876 S 31 0 1 EFCAB2 AK12 esv269284 1 243242393 243242732 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520834,essv2557024,essv2552367,essv2569308,essv2558867,essv2537126,essv2529540,essv2574906,essv2572734,essv2568549,essv2571349,essv2574069 M 157 12 0 Samples from several populations that are part of the HapMap project. EFCAB2 NA18498,NA18501,NA18502,NA18508,NA18516,NA18517,NA19093,NA19138,NA19143,NA19147,NA19238,NA19240 esv273990 1 243242399 243242736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584008,essv2583476 M 7 2 0 Samples from several populations that are part of the HapMap project. EFCAB2 NA19238,NA19240 esv24561 1 243332881 243333626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14734 S 451 0 2 EFCAB2 NA19190,NA19225 nsv515634 1 243382842 243394708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669679,nssv664179,nssv686032,nssv705443 M 2026 0 4 KIF26B nsv524642 1 243382842 243403395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700608 S 2026 0 1 KIF26B nsv528375 1 243417681 243419593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704962 S 2026 0 1 KIF26B nsv5199 1 243441173 243475380 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2799 S 9 1 0 KIF26B NA18555 dgv557n71 1 243448625 243553951 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873396,nsv873397 M 6533 2 0 KIF26B IS39680,MS10296 esv1964314 1 243499971 243500452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968691 S 1 0 1 KIF26B NA18507 esv4377 1 243500097 243500334 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26818 S 1 0 1 Single Asian sample YH KIF26B YH esv1366991 1 243500198 243500290 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867044 S 2 0 1 KIF26B HuRef esv2421654 1 243505830 243509160 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5146876,essv5020352,essv5120129,essv5148657,essv5006165,essv5127218,essv5123710,essv5124836,essv5055029,essv5080619,essv5053224,essv5089378,essv5121152,essv5137346,essv5131426 M 1184 0 15 KIF26B NA17967,NA17995,NA18140,NA18537,NA18602,NA18639,NA18647,NA18951,NA18965,NA18975,NA18979,NA18995,NA19063,NA19070,NA19074 nsv441744 1 243505832 243509159 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF26B dgv113n67 1 243506982 243509734 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827686,nsv827675 M 31 0 3 KIF26B NA18537,NA18547,NA18951 nsv527082 1 243528382 243528871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703461 S 2026 0 1 KIF26B nsv5210 1 243589749 243621822 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1805 S 9 1 0 KIF26B NA18555 nsv873398 1 243595403 243679177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594082 S 6533 1 0 KIF26B IS39680 esv28270 1 243641232 243641895 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15412 S 451 1 0 KIF26B NA12004 nsv7191 1 243642870 244003129 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6222 S 9 0 0 KIF26B,SMYD3 NA12156 esv29096 1 243672564 243674450 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20002 S 451 0 8 KIF26B NA06985,NA11894,NA11931,NA11993,NA12004,NA12006,NA12776,NA15510 nsv161160 1 243672570 243672712 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179738 M 24 KIF26B esv1635429 1 243672918 243672976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606638 S 2 0 1 KIF26B HuRef esv2606381 1 243673217 243673274 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324219 S 1 0 1 KIF26B NA18507 esv1457319 1 243673450 243673596 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610327 S 2 0 1 KIF26B HuRef esv1330272 1 243673620 243673681 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632627 S 2 0 1 KIF26B HuRef esv1756438 1 243673760 243673870 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241935 S 2 0 1 KIF26B HuRef nsv873399 1 243679177 243880436 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522416 S 6533 1 0 KIF26B SP53023 nsv873400 1 243692275 243756410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594083 S 6533 1 0 KIF26B IS39680 dgv62n27 1 243700890 243714349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468739,nsv468705,nsv468716,nsv468750,nsv468728 M 1557 0 5 KIF26B 1780854436_A,HGDP00029,HGDP00094,HGDP00558,HGDP00683 dgv558n71 1 243700890 243724288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873402,nsv873401 M 6533 0 5 KIF26B IS30694,IS31041,IS31070,IS31294,IS33832 esv22570 1 243703417 243714597 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11268 S 451 0 1 KIF26B NA11993 nsv517322 1 243703662 243714349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657769,nssv691284,nssv691042,nssv669269,nssv683099,nssv689138,nssv683394,nssv661820,nssv664574,nssv660984,nssv686971,nssv668784,nssv676441,nssv671356,nssv676675,nssv692741,nssv652813,nssv683553,nssv690751,nssv690947,nssv691139,nssv688589,nssv659171,nssv670926,nssv669680,nssv684815,nssv659653,nssv654897,nssv658836,nssv672787,nssv687556,nssv669331,nssv658848,nssv678388,nssv687836,nssv671438,nssv689110,nssv688436,nssv670359,nssv677830,nssv651714,nssv670704,nssv693509,nssv691664,nssv684778,nssv664273,nssv693423,nssv674994,nssv655323,nssv652317,nssv678614 M 2026 0 51 KIF26B nsv818877 1 243703662 243714349 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415812,nssv1415813 M 112 0 2 KIF26B NA10860,NA11993 nsv468761 1 243703662 243720615 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543852 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIF26B HGDP00195 nsv470791 1 243703662 243750298 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544430 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIF26B HGDP00599 nsv441745 1 243703665 243713527 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF26B nsv508704 1 243707778 243753970 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619002 S 4 0 1 KIF26B NA10860 nsv468783 1 243709308 243714349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543867 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIF26B HGDP00066 nsv517138 1 243724288 243730142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660923,nssv662006,nssv682476,nssv674467,nssv658925,nssv689324,nssv676070,nssv653847,nssv662183,nssv690785,nssv656271,nssv688901,nssv672207,nssv664966,nssv673016,nssv678839 M 2026 0 16 KIF26B esv33776 1 243736331 243761706 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100187 S 51 0 1 KIF26B 22286 nsv522286 1 243762877 243769907 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695068 S 2026 1 0 KIF26B esv2374353 1 243786051 243786473 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533592 S 1 0 1 KIF26B NA18507 nsv873403 1 243810207 243845607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546473 S 6533 0 1 KIF26B MS17208 nsv5221 1 243813833 243832365 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3846 S 9 1 0 KIF26B NA12878 esv2636493 1 243829829 243830828 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368292 S 1 1 0 KIF26B NA18507 esv1751553 1 243830063 243830063 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847375 S 2 1 0 KIF26B HuRef esv2275975 1 243844606 243845168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884288 S 1 0 1 KIF26B NA18507 esv4958 1 243844759 243845018 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27399 S 1 0 1 Single Asian sample YH KIF26B YH esv994414 1 243844808 243844909 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584973 S 3 0 1 KIF26B HuRef esv1719464 1 243844853 243844921 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666186 S 2 0 1 KIF26B HuRef nsv509735 1 243873253 243897529 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618001 S 4 1 0 KIF26B CHM nsv521141 1 243889522 243929845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697811 S 2026 0 1 KIF26B esv1786816 1 243890225 243890225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785232 S 2 1 0 KIF26B HuRef esv1010286 1 243890225 243892212 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565608 S 3 1 0 KIF26B HuRef nsv5232 1 243893607 243899266 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2808 S 9 1 0 KIF26B NA18555 nsv517510 1 243913657 243929845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675427,nssv652233,nssv684518,nssv657633,nssv654490,nssv664544,nssv687628,nssv672652 M 2026 0 8 KIF26B nsv827698 1 243914377 243920330 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432648 S 31 1 0 KIF26B NA18972 nsv873404 1 243916718 244031134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522417 S 6533 1 0 KIF26B,SMYD3 SP53023 esv2112759 1 243925524 243925998 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763965 S 1 0 1 KIF26B NA18507 esv999717 1 243925679 243925812 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572141 S 3 0 1 KIF26B HuRef esv1770455 1 243925744 243925878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879505 S 2 0 1 KIF26B HuRef nsv508069 1 243995960 244001960 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621493 S 4 0 1 SMYD3 NA15510 nsv160896 1 244004600 244004667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179474 M 24 SMYD3 nsv468805 1 244017265 244295868 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543886 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SMYD3 HGDP00537 nsv873405 1 244026534 244160267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536586 S 6533 0 1 SMYD3 MS12859 esv2472512 1 244027896 244028847 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325763 S 1 1 0 SMYD3 NA18507 nsv526429 1 244037173 244045980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702731 S 2026 0 1 SMYD3 nsv468816 1 244045980 244072421 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543893 S 1557 0 1 SMYD3 1780862393_A esv270680 1 244055909 244056269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571785,essv2522969,essv2550320,essv2565490,essv2520044,essv2554990,essv2537184,essv2528381,essv2546746,essv2577056,essv2530441,essv2571456,essv2546064,essv2574464,essv2554487,essv2548013 M 157 16 0 Samples from several populations that are part of the HapMap project. SMYD3 NA07346,NA07347,NA11840,NA11931,NA12234,NA12812,NA12815,NA12872,NA12878,NA12891,NA12892,NA18970,NA19141,NA19238,NA19239,NA19240 esv274327 1 244055913 244056267 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582026,essv2582413,essv2582917,essv2584154,essv2584654,essv2583885 M 7 6 0 Samples from several populations that are part of the HapMap project. SMYD3 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1341719 1 244055935 244055935 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047955 S 2 1 0 SMYD3 HuRef nsv873406 1 244057650 244105854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522418 S 6533 1 0 SMYD3 SP53023 dgv201e1 1 244095202 244182625 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5703,esv1375,essv7644 M 271 0 0 SMYD3 NA18550,NA18632 nsv441746 1 244095685 244103915 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SMYD3 esv2569869 1 244101513 244102867 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389746 S 1 0 1 SMYD3 NA18507 esv2193501 1 244102149 244102615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729188 S 1 0 1 SMYD3 NA18507 nsv160904 1 244102347 244102431 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179482 M 24 SMYD3 nsv873407 1 244172707 244215414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530356 S 6533 1 0 SMYD3 MS10296 nsv506990 1 244179163 244185163 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623299 S 4 1 0 SMYD3 NA18994 nsv873408 1 244189494 244254523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534054 S 6533 0 1 SMYD3 MS11444 dgv559n71 1 244189494 244495681 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873411,nsv873409 M 6533 0 2 SMYD3 MS11019,MS11444 esv4687 1 244192540 244192839 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27128 S 1 0 1 Single Asian sample YH SMYD3 YH nsv5243 1 244196019 244211201 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8269 S 9 0 1 SMYD3 NA12156 esv1006575 1 244204210 244207720 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586488 S 3 0 1 SMYD3 HuRef nsv820737 1 244204375 244207016 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421091 S 1 0 1 SMYD3 NA10851 esv23200 1 244204440 244207016 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11357 S 451 1 16 SMYD3 NA06985,NA07037,NA11894,NA11931,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA18517,NA19099,NA19147,NA19190,NA19240,NA19257 esv1406170 1 244204816 244205368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693047 S 2 0 1 SMYD3 HuRef nsv514921 1 244204848 244206736 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628463 S 1414 0 0 SMYD3 esv1098694 1 244205412 244205868 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783281 S 2 0 1 SMYD3 HuRef esv1372253 1 244205918 244206758 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645005 S 2 0 1 SMYD3 HuRef esv2562033 1 244221621 244223252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374564 S 1 0 1 SMYD3 NA18507 esv29332 1 244221727 244222861 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18775 S 451 0 1 SMYD3 NA07045 esv1739621 1 244222266 244222266 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588807 S 2 1 0 SMYD3 HuRef esv2155069 1 244222368 244222994 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000306 S 1 0 1 SMYD3 NA18507 esv1407105 1 244222407 244222736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830408 S 2 0 1 SMYD3 HuRef esv1003540 1 244222454 244222782 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575145 S 3 0 1 SMYD3 HuRef esv6772 1 244222475 244222871 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29213 S 1 0 1 SMYD3 SJK esv2332007 1 244223330 244223719 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647447 S 1 0 1 SMYD3 NA18507 esv2499203 1 244231939 244233371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275153 S 1 0 1 SMYD3 NA18507 esv1003030 1 244233906 244234002 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565853 S 3 0 1 SMYD3 HuRef esv1389764 1 244233906 244234003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892909 S 2 0 1 SMYD3 HuRef nsv526469 1 244234640 244557061 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702773 S 2026 1 0 SMYD3 esv2473608 1 244239271 244240249 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374064 S 1 1 0 SMYD3 NA18507 esv1341852 1 244239907 244239907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220110 S 2 1 0 SMYD3 HuRef nsv873410 1 244254939 244431215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583432 S 6533 0 1 SMYD3 IS36475 esv2605359 1 244286076 244287107 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253839 S 1 1 0 SMYD3 NA18507 esv24517 1 244301690 244302524 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18228 S 451 2 6 SMYD3 NA11931,NA12004,NA12239,NA12287,NA12489,NA12749,NA15510,NA19114 esv2434687 1 244301701 244302725 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253206 S 1 1 0 SMYD3 NA18507 esv1782018 1 244301923 244301923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782003 S 2 1 0 SMYD3 HuRef esv1371383 1 244301991 244301991 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594104 S 2 1 0 SMYD3 HuRef nsv873412 1 244324039 244643284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544017 S 6533 0 1 SMYD3 MS16211 esv33357 1 244341945 244342696 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98717 S 51 0 1 SMYD3 21606 nsv159602 1 244353545 244355012 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178180 M 24 SMYD3 nsv515510 1 244386105 244452757 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683795,nssv685363,nssv657929,nssv653382,nssv679462,nssv685549,nssv686479,nssv660764,nssv665033,nssv677318,nssv660679,nssv676404 M 2026 0 12 SMYD3 esv2607117 1 244429574 244430744 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370865 S 1 1 0 SMYD3 NA18507 esv1623049 1 244430066 244430066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220680 S 2 1 0 SMYD3 HuRef nsv873413 1 244431434 244541684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530357 S 6533 1 0 SMYD3 MS10296 dgv114n67 1 244460196 244467573 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827720,nsv827709 M 31 0 3 SMYD3 AK18,NA18564,NA18570 nsv827731 1 244460232 244460967 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437278 S 31 0 1 SMYD3 NA18949 nsv9014 1 244461590 244467021 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25708,nssv25463 M 31 0 2 Samples from several populations that are part of the HapMap project. SMYD3 NA18504,NA19132 esv25241 1 244462085 244465004 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12346 S 451 1 5 SMYD3 NA12828,NA18502,NA18517,NA18858,NA18907,NA19114 esv1565797 1 244462610 244462708 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689078 S 2 0 1 SMYD3 HuRef esv1763627 1 244462964 244463111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144833 S 2 0 1 SMYD3 HuRef esv1037683 1 244463514 244463514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000120 S 2 1 0 SMYD3 HuRef esv269977 1 244473304 244473389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514535,essv2518768,essv2517617,essv2516258,essv2516832,essv2518923 M 157 6 0 Samples from several populations that are part of the HapMap project. SMYD3 NA11840,NA12045,NA12878,NA12891,NA12892,NA19239 esv273036 1 244473306 244473651 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582137,essv2582279,essv2583124,essv2584792 M 7 4 0 Samples from several populations that are part of the HapMap project. SMYD3 NA12878,NA12891,NA12892,NA19239 dgv202e1 1 244473769 244807567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv457,essv16924,essv17173,essv12652 M 271 0 0 CNST,LOC255654,SMYD3,TFB2M NA18500,NA19144,NA19171 nsv428346 1 244473769 244807567 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453197 S 62 1 0 CNST,LOC255654,SMYD3,TFB2M HGDP00986 nsv9025 1 244480701 244490938 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27271 S 31 1 0 Samples from several populations that are part of the HapMap project. SMYD3 NA10839 esv1008315 1 244481074 244482135 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586548 S 3 0 1 SMYD3 HuRef esv22703 1 244481074 244482220 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13578 S 451 11 1 SMYD3 NA11894,NA12156,NA12776,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18907,NA19129,NA19190 nsv820560 1 244481074 244482281 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421102 S 1 0 1 SMYD3 NA10851 esv1396451 1 244481706 244481799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893225 S 2 0 1 SMYD3 HuRef esv1098199 1 244481846 244482001 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704215 S 2 0 1 SMYD3 HuRef nsv873414 1 244482030 244562256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599325 S 6533 0 1 SMYD3 IS41581 nsv511750 1 244505000 244507595 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626396 S 1 0 1 SMYD3 1 esv1309596 1 244505811 244506305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140824 S 2 0 1 SMYD3 HuRef esv1404916 1 244506340 244506588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271834 S 2 0 1 SMYD3 HuRef dgv560n71 1 244522465 244568776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873415,nsv873417 M 6533 0 3 SMYD3 MS13553,MS19267,MS22764 nsv873416 1 244522465 244617484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520754 S 6533 0 1 SMYD3 SP51241 esv2516817 1 244554753 244555440 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232908 S 1 1 0 SMYD3 NA18507 esv1589863 1 244554972 244554972 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676048 S 2 1 0 SMYD3 HuRef esv1003896 1 244561987 244563416 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565095 S 3 1 0 SMYD3 HuRef nsv873418 1 244578841 244703223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525940 S 6533 0 1 SMYD3 SP56903 esv29109 1 244617632 244619964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12420 S 451 0 1 SMYD3 NA07037 esv1643982 1 244619366 244619679 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182799 S 2 0 1 SMYD3 HuRef esv2590335 1 244624895 244626277 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202904 S 1 0 1 SMYD3 NA18507 esv2074719 1 244625409 244625888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4761589 S 1 0 1 SMYD3 NA18507 esv1644154 1 244625545 244625601 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663152 S 2 0 1 SMYD3 HuRef esv990691 1 244625595 244625648 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574089 S 3 0 1 SMYD3 HuRef esv268272 1 244632279 244632458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514511,essv2515475,essv2518555,essv2515017,essv2515648,essv2517578 M 157 6 0 Samples from several populations that are part of the HapMap project. SMYD3 NA11840,NA12249,NA12287,NA12812,NA12815,NA12878 esv273894 1 244632279 244632458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581410 S 7 1 0 Samples from several populations that are part of the HapMap project. SMYD3 NA12878 nsv524498 1 244643284 244685503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700438 S 2026 0 1 SMYD3 esv2521573 1 244658415 244659276 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191341 S 1 1 0 SMYD3 NA18507 esv274048 1 244658923 244659283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580641 S 7 1 0 Samples from several populations that are part of the HapMap project. SMYD3 NA19238 esv270446 1 244658935 244659262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540972,essv2521244,essv2536781,essv2570850,essv2556758,essv2570414,essv2548440,essv2521672,essv2550525,essv2525327,essv2520648,essv2558581,essv2564717,essv2559421,essv2565372,essv2576153,essv2554967,essv2530866,essv2528327,essv2557116,essv2532412,essv2562584,essv2578856,essv2552820,essv2564956,essv2534543,essv2561008,essv2521930,essv2531107,essv2532794,essv2567713,essv2567629,essv2569999,essv2563654,essv2553367,essv2535854,essv2572612,essv2569129,essv2556135,essv2555368,essv2533509,essv2566639,essv2522396,essv2531674,essv2543324,essv2525749,essv2575706,essv2575148,essv2538518,essv2560580,essv2574693,essv2572923,essv2560439,essv2549723,essv2571341,essv2545874,essv2574333,essv2551484,essv2536246,essv2524961,essv2563239 M 157 61 0 Samples from several populations that are part of the HapMap project. SMYD3 NA06986,NA07357,NA10847,NA11831,NA11894,NA11920,NA11993,NA11994,NA12044,NA12045,NA12144,NA12155,NA12156,NA12716,NA12750,NA12751,NA12776,NA12812,NA12814,NA12872,NA12873,NA12891,NA18501,NA18505,NA18507,NA18510,NA18542,NA18558,NA18561,NA18562,NA18571,NA18573,NA18576,NA18577,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18861,NA18871,NA18943,NA18944,NA18948,NA18960,NA18961,NA18965,NA18980,NA19099,NA19102,NA19108,NA19116,NA19138,NA19143,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv1640065 1 244658965 244658965 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142574 S 2 1 0 SMYD3 HuRef esv1477661 1 244692102 244692164 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146779 S 2 0 1 SMYD3 HuRef esv1000792 1 244692166 244692227 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578311 S 3 0 1 SMYD3 HuRef nsv873419 1 244708450 244731102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582066 S 6533 0 1 SMYD3 IS35788 esv2100000 1 244713769 244715258 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649952 S 1 0 1 SMYD3 NA18507 esv2390771 1 244713833 244714308 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960124 S 1 0 1 SMYD3 NA18507 esv27324 1 244714189 244715255 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13157 S 451 0 1 SMYD3 NA18909 esv1544511 1 244714191 244714243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299012 S 2 0 1 SMYD3 HuRef esv989400 1 244723725 244723789 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575440 S 3 0 1 SMYD3 HuRef esv1205920 1 244723751 244723816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085843 S 2 0 1 SMYD3 HuRef nsv522303 1 244735167 244759615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695084 S 2026 0 1 LOC255654,SMYD3 nsv525447 1 244735167 244765276 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701575 S 2026 1 0 LOC255654,SMYD3 nsv9036 1 244749012 244752951 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23685,nssv27528,nssv27391,nssv22100,nssv24290,nssv22749,nssv25942,nssv25953,nssv25443,nssv23692,nssv25716,nssv25722,nssv27831,nssv26388,nssv23372 M 31 0 15 Samples from several populations that are part of the HapMap project. LOC255654 NA07029,NA10839,NA10863,NA11830,NA12740,NA12872,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA18860,NA19132,NA19173 esv26011 1 244749795 244752090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13262 S 451 0 24 LOC255654 NA06985,NA07037,NA11993,NA12004,NA12006,NA12287,NA12414,NA12749,NA12878,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 esv1568202 1 244750551 244751433 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794644 S 2 0 1 LOC255654 HuRef esv1237155 1 244751469 244751523 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657243 S 2 0 1 LOC255654 HuRef esv1722014 1 244751756 244751756 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345624 S 2 1 0 LOC255654 HuRef dgv33n21 1 244763219 244814209 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527464,nsv522963 M 2026 2 0 CNST,TFB2M nsv873420 1 244772762 244821747 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530358 S 6533 1 0 CNST,TFB2M MS10296 nsv528615 1 244775090 244909938 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705243 S 2026 1 0 CNST,TFB2M nsv5254 1 244779983 244814545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv618 S 9 1 0 CNST,TFB2M NA19240 esv2499098 1 244805652 244806315 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225036 S 1 1 0 CNST NA18507 nsv9047 1 244805838 244809161 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26178 S 31 0 1 Samples from several populations that are part of the HapMap project. CNST NA18504 esv1262343 1 244806178 244806178 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143028 S 2 1 0 CNST HuRef esv26600 1 244806227 244808300 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20088 S 451 0 2 CNST NA18505,NA18861 nsv509746 1 244840348 244874399 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619832 S 4 1 0 CNST NA10860 esv2621871 1 244872575 244873066 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342900 S 1 1 0 CNST NA18507 esv1713139 1 244882778 244882778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635891 S 2 1 0 CNST HuRef nsv873421 1 244885257 245111315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502622 S 6533 1 0 AHCTF1,CNST,LOC149134,SCCPDH SP51302 nsv509757 1 244892888 244933850 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619833,nssv623819,nssv621116 M 4 3 0 CNST NA10860,NA15510,NA18994 nsv873422 1 244921485 245069261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530359 S 6533 1 0 AHCTF1,LOC149134,SCCPDH MS10296 esv1007065 1 244922100 244922704 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565035 S 3 1 0 "" HuRef esv1297758 1 244940367 244940367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770512 S 2 1 0 "" HuRef nsv159075 1 244944413 244944645 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv177653 M 24 "" nsv523531 1 244960571 245034522 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699306 S 2026 1 0 LOC149134,SCCPDH nsv873423 1 244990484 245045127 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540705 S 6533 1 0 LOC149134,SCCPDH MS14978 esv2443936 1 244994261 244995695 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278609 S 1 0 1 SCCPDH NA18507 esv1933268 1 244994739 244995228 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829301 S 1 0 1 SCCPDH NA18507 esv1000885 1 244994925 244995012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567676 S 3 0 1 SCCPDH HuRef esv1589537 1 244995047 244995179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115334 S 2 0 1 SCCPDH HuRef nsv160725 1 244995048 244995179 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv179303 M 24 SCCPDH nsv509768 1 245004336 245069331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621117,nssv618002,nssv619834,nssv623820 M 4 4 0 AHCTF1,LOC149134 CHM,NA10860,NA15510,NA18994 dgv203e1 1 245006479 245012644 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3634,esv898 M 271 0 0 "" NA18966 esv28400 1 245012934 245013534 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15314 S 451 3 0 "" NA18523,NA19114,NA19225 esv2609864 1 245015251 245015964 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235452 S 1 1 0 "" NA18507 nsv525154 1 245020789 245029642 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701226 S 2026 0 1 LOC149134 nsv5265 1 245030415 245066279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5084,nssv6231,nssv3847,nssv1816,nssv628 M 9 5 0 "" NA12156,NA12878,NA18555,NA19129,NA19240 esv4346 1 245036440 245036674 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26787 S 1 0 1 Single Asian sample YH "" YH esv1230006 1 245036520 245036612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079672 S 2 0 1 "" HuRef nsv159925 1 245036521 245036612 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178503 M 24 "" esv2112127 1 245039329 245039774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506210 S 1 0 1 "" NA18507 esv993790 1 245044476 245050978 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565670 S 3 1 0 "" HuRef esv1009063 1 245047534 245049741 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564761 S 3 1 0 "" HuRef esv1166400 1 245047909 245047909 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062477 S 2 1 0 "" HuRef esv1607517 1 245055819 245055882 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687083 S 2 0 1 "" HuRef nsv873424 1 245057717 245433003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540706 S 6533 1 0 AHCTF1,C1orf229,MIR3916,ZNF124,ZNF669,ZNF670,ZNF670-ZNF695,ZNF695 MS14978 nsv511751 1 245092971 245096543 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626397 S 1 0 1 AHCTF1 1 esv2446831 1 245093736 245095316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227076 S 1 0 1 AHCTF1 NA18507 esv1940734 1 245094329 245095016 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893228 S 1 0 1 AHCTF1 NA18507 esv2857 1 245094462 245094938 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25298 S 1 0 1 Single Asian sample YH AHCTF1 YH nsv5276 1 245094987 245139721 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8288 S 9 0 1 AHCTF1 NA12156 dgv561n71 1 245136137 245229251 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873426,nsv873425 M 6533 5 0 AHCTF1,ZNF670-ZNF695,ZNF695 IS32661,IS32680,IS33533,IS35974,IS40039 esv33129 1 245141053 246395458 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100634,essv94401,essv97853,essv95741,essv95800,essv96741,essv97135,essv100528 M 51 3 5 AHCTF1,C1orf150,C1orf229,LOC148824,MIR3916,NLRP3,OR11L1,OR13G1,OR14A16,OR1C1,OR2AK2,OR2B11,OR2C3,OR2G2,OR2G3,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2M1P,OR2M5,OR2T8,OR2W3,OR2W5,OR6F1,TRIM58,VN1R5,ZNF124,ZNF496,ZNF669,ZNF670,ZNF670-ZNF695,ZNF695 21656,21808,21837,21841,21911,22011,22075,22298 nsv524007 1 245165210 245229281 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699867 S 2026 1 0 ZNF670-ZNF695,ZNF695 esv1005990 1 245169635 245170598 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579106 S 3 0 1 "" HuRef esv1490388 1 245175165 245175165 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651320 S 2 1 0 "" HuRef nsv873427 1 245207048 245284850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555488 S 6533 0 1 ZNF670,ZNF670-ZNF695,ZNF695 MS21397 esv2487818 1 245252545 245254312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357471 S 1 0 1 ZNF670-ZNF695 NA18507 nsv873428 1 245293609 245412812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575695 S 6533 0 1 C1orf229,ZNF124,ZNF669,ZNF670,ZNF670-ZNF695 IS33797 dgv562n71 1 245297432 245364125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873431,nsv873429,nsv873430 M 6533 0 3 C1orf229,ZNF124,ZNF669,ZNF670,ZNF670-ZNF695 MS10311,MS15835,MS16153 esv29446 1 245298537 245299486 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16837 S 451 0 1 ZNF670,ZNF670-ZNF695 NA18907 esv1167318 1 245321380 245321380 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884715 S 2 1 0 "" HuRef nsv509779 1 245329103 245367240 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619835,nssv621118 M 4 2 0 C1orf229,ZNF124,ZNF669 NA10860,NA15510 esv27005 1 245336951 245341892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16513 S 451 0 1 C1orf229 NA12489 nsv833126 1 245339707 245542773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441755 S 95 0 1 C1orf229,MIR3916,VN1R5,ZNF124,ZNF496 nsv5287 1 245342118 245361744 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8296 S 9 1 0 C1orf229,ZNF124 NA12156 nsv873432 1 245345330 245400946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567114 S 6533 0 1 ZNF124 IS31045 nsv873433 1 245345330 245426991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598150 S 6533 0 1 ZNF124 IS41043 nsv511752 1 245345693 245348880 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626398 S 1 0 1 "" 1 esv24790 1 245345749 245348969 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13765 S 451 1 13 "" NA12156,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 esv995255 1 245345804 245348904 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586273 S 3 1 0 "" HuRef nsv499487 1 245357629 245402239 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585490 S 9 0 0 ZNF124 nsv513639 1 245357650 245398823 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626891 S 1 0 0 ZNF124 1 esv1225151 1 245357729 245358039 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057241 S 2 0 0 ZNF124 HuRef nsv7192 1 245357754 245436952 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9427 S 9 0 0 MIR3916,ZNF124 NA18517 nsv821373 1 245358594 245360108 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421113 S 1 0 1 ZNF124 NA10851 esv24532 1 245358773 245359993 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12039 S 451 1 24 ZNF124 NA07037,NA07045,NA11931,NA11993,NA11995,NA12006,NA12239,NA12414,NA12489,NA12828,NA15510,NA18505,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv1201683 1 245358948 245359505 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645770 S 2 0 1 ZNF124 HuRef esv272773 1 245381969 245382238 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578935,essv2579466 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNF124 NA19239,NA19240 nsv873434 1 245386112 245426991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599357 S 6533 0 1 ZNF124 IS41634 esv1441492 1 245400251 245400562 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627339 S 2 0 0 ZNF124 HuRef dgv563n71 1 245403349 245433003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873435,nsv873437 M 6533 0 2 MIR3916 IS31228,IS39464 nsv873436 1 245405687 245452500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572907 S 6533 0 1 MIR3916 IS33196 nsv873438 1 245414594 245433003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567065,nssv1523539 M 6533 0 2 MIR3916 IS31044,SP54087 nsv5299 1 245480533 245507555 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8303 S 9 1 0 VN1R5 NA12156 nsv506991 1 245498393 245504393 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620683,nssv619267 M 4 2 0 "" NA10860,NA15510 nsv833137 1 245503940 245674051 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441756 S 95 1 0 NLRP3,ZNF496 nsv509790 1 245540925 245675801 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619836 S 4 1 0 NLRP3,ZNF496 NA10860 nsv873439 1 245553359 245615843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573740 S 6533 0 1 ZNF496 IS33504 esv2335854 1 245557484 245557939 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994963 S 1 0 1 ZNF496 NA18507 esv4468 1 245557629 245557828 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26909 S 1 0 1 Single Asian sample YH ZNF496 YH esv992675 1 245557660 245557738 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584775 S 3 0 1 ZNF496 HuRef esv21506 1 245561334 245562396 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17401 S 451 0 1 ZNF496 NA07045 esv1009044 1 245593015 245593234 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563817 S 3 1 0 "" HuRef esv1098160 1 245603395 245603590 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234023 S 2 0 1 "" HuRef nsv506992 1 245607268 245613268 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617554,nssv623300 M 4 2 0 "" CHM,NA18994 esv2168945 1 245636157 245636617 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4576489 S 1 0 1 "" NA18507 esv2440127 1 245662677 245664140 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192928 S 1 0 1 NLRP3 NA18507 esv24867 1 245663513 245663978 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20768 S 451 0 2 NLRP3 NA18517,NA19129 esv4825 1 245663794 245664071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27266 S 1 0 1 Single Asian sample YH NLRP3 YH esv270762 1 245676376 245680850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516348 S 157 1 0 Samples from several populations that are part of the HapMap project. NLRP3 NA12814 esv4767 1 245688233 245688777 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27208 S 1 0 1 Single Asian sample YH "" YH dgv115n67 1 245720161 245721648 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827753,nsv827742 M 31 0 2 OR2W5 AK4,NA18949 nsv827764 1 245721138 245721588 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437280 S 31 0 1 OR2W5 NA18949 nsv873440 1 245757040 246184039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541554 S 6533 1 0 C1orf150,LOC148824,OR11L1,OR13G1,OR14A16,OR1C1,OR2C3,OR2G2,OR2G3,OR2L13,OR2L8,OR2T8,OR2W3,OR6F1,TRIM58 MS15364 dgv204e1 1 245781208 246388939 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11368,esv752,essv13602 M 271 0 0 C1orf150,OR11L1,OR13G1,OR14A16,OR1C1,OR2AK2,OR2G2,OR2G3,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2M1P,OR2M5,OR2T8,OR2W3,OR6F1,TRIM58 NA19127 nsv818889 1 245782621 245795585 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416823 S 112 0 1 C1orf150 NA19239 nsv524193 1 245786000 245790293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700076 S 2026 0 1 C1orf150 esv270397 1 245819150 245819504 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513229,essv2502582,essv2507747 M 157 3 0 Samples from several populations that are part of the HapMap project. OR2G2 NA12249,NA12750,NA12751 esv34503 1 245819830 246442693 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986635,essv6978498,essv6978497,essv6978496,essv6990244 M 771 1 0 OR11L1,OR13G1,OR14A16,OR1C1,OR2AK2,OR2G3,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M5,OR2T8,OR2W3,OR6F1,TRIM58 NA19127 nsv515858 1 245850513 246935401 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701896,nssv690861,nssv680499,nssv667555,nssv675717,nssv695919,nssv699878,nssv687997,nssv663332,nssv699854,nssv663229,nssv688039,nssv663459,nssv666845,nssv685956,nssv657573,nssv678232,nssv705468,nssv692239,nssv665551,nssv665034,nssv680387,nssv675536,nssv683771,nssv698574,nssv669542,nssv705170,nssv662693,nssv685153 M 2026 21 8 OR11L1,OR13G1,OR14A16,OR14C36,OR14I1,OR1C1,OR2AK2,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,OR2W3,OR6F1,TRIM58 nsv9058 1 245867330 245870215 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25961 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 esv1351964 1 245879205 245879256 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734981 S 2 0 1 "" HuRef esv2276963 1 245885772 245886206 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759421 S 1 0 1 "" NA18507 nsv5310 1 245887109 245943968 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv638,nssv3848,nssv5094,nssv1823 M 9 0 4 OR13G1,OR6F1 NA12878,NA18555,NA19129,NA19240 nsv873441 1 245903283 245976637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525185,nssv1522852,nssv1524987 M 6533 0 3 OR6F1 SP53471,SP55423,SP56347 esv995624 1 245914901 245923178 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563807 S 3 0 1 "" HuRef nsv511753 1 245916640 245923218 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626400 S 1 0 1 "" 1 dgv26n16 1 245916649 245923951 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435869,nsv436208 M 2 0 2 "" NA15510,NA18505 esv2621496 1 245916715 245926368 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288902 S 1 0 1 "" NA18507 esv2304093 1 245916900 245923357 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606133 S 1 0 1 "" NA18507 esv2482439 1 245916915 245924338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182496 S 1 0 1 "" NA18507 nsv508705 1 245916918 245935562 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620157,nssv619003,nssv617429,nssv622792 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv5114 1 245917047 245923190 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27555 S 1 0 1 Single Asian sample YH "" YH nsv160148 1 245917079 245923131 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178726 M 24 "" nsv498713 1 245917085 245923152 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585429 S 9 0 1 "" esv1692741 1 245917098 245923151 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340252 S 2 0 1 "" HuRef esv8644 1 245917099 245923137 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31085 S 1 0 1 "" SJK esv267874 1 245931712 245932015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510597,essv2493213,essv2494705,essv2501016,essv2505905,essv2501318 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA18519,NA18856,NA18861,NA19093 nsv873442 1 245963172 246417399 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521278 S 6533 1 0 OR11L1,OR14A16,OR1C1,OR2AK2,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2M1P,OR2M2,OR2M5,OR2T8,OR2W3,TRIM58 SP52328 esv2421363 1 245972288 245972460 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109974,essv5035214,essv5077706,essv5059752,essv5146750,essv5147388,essv5007430,essv5084030,essv5081582,essv5105911,essv5141048,essv5095496,essv5114493,essv5059695,essv5129187,essv5132703,essv5051882,essv5041590,essv5046381,essv5081986,essv5047929,essv5008899,essv5154988,essv5079540,essv5046905,essv5046059,essv5012096,essv5065357,essv5018486,essv5113282,essv5046633,essv5090390,essv5064065,essv5046044,essv5151262,essv5151663,essv5122796,essv5107649,essv5155566,essv5029049,essv5096516,essv5126144,essv5116336,essv5029016,essv5049459,essv5123970,essv5026656,essv5119527,essv5155795,essv5018614,essv5125010,essv5083203,essv5152166,essv5074229,essv5116876,essv5101972,essv5038768,essv5050046,essv5011911,essv5081742,essv5156115,essv5130783,essv5101853,essv5081171,essv5043176,essv5044294,essv5059107,essv5017258,essv5050111,essv5091076,essv5066879,essv5115434,essv5118091,essv5061946,essv5076331,essv5125535,essv5055328,essv5065689,essv5088878,essv5138548,essv5003300,essv5130194,essv5013000,essv5155289,essv5036288,essv5104952,essv5112353,essv5147317,essv5153737,essv5120617,essv5126504,essv5066481,essv5043529,essv5022039,essv5147587,essv5054277,essv5042324,essv5156062,essv5056441,essv5051170,essv5099036,essv5099381,essv5139923,essv5065742,essv5091317,essv5136471,essv5046005,essv5013629 M 1184 0 108 "" NA06986,NA06997,NA07031,NA10859,NA10865,NA11882,NA11891,NA12145,NA12739,NA12740,NA12748,NA12750,NA12776,NA12802,NA17967,NA17998,NA18485,NA18486,NA18487,NA18505,NA18510,NA18519,NA18624,NA18635,NA18855,NA18861,NA18863,NA18874,NA18875,NA18910,NA18934,NA19095,NA19096,NA19097,NA19099,NA19101,NA19114,NA19121,NA19123,NA19130,NA19132,NA19149,NA19190,NA19191,NA19192,NA19198,NA19202,NA19221,NA19223,NA19224,NA19311,NA19321,NA19327,NA19332,NA19350,NA19380,NA19381,NA19382,NA19403,NA19435,NA19457,NA19704,NA19708,NA19719,NA19721,NA19900,NA20289,NA20290,NA20292,NA20297,NA20334,NA20335,NA20344,NA20346,NA20348,NA20357,NA20363,NA20520,NA20529,NA20539,NA20582,NA20586,NA20801,NA20892,NA20909,NA21089,NA21090,NA21115,NA21144,NA21311,NA21320,NA21364,NA21399,NA21402,NA21404,NA21414,NA21415,NA21421,NA21423,NA21453,NA21454,NA21455,NA21457,NA21473,NA21513,NA21574,NA21717,NA21738 nsv9069 1 245999626 246001561 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26196 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv205e1 1 246013817 246343769 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5500,essv14597,essv17603,essv23536,essv6765 M 271 0 0 OR11L1,OR14A16,OR2AK2,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2T8,OR2W3,TRIM58 NA06993,NA12753,NA18562,NA18632,NA19093 esv1011387 1 246051273 246051908 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565288 S 3 0 1 "" HuRef nsv873443 1 246068189 246205154 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562075 S 6533 1 0 OR11L1,OR2AK2,OR2L13,OR2L8,OR2T8,OR2W3,TRIM58 MS25357 nsv827775 1 246089350 246089904 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421511 S 31 1 0 TRIM58 NA18997 nsv819723 1 246095365 246101323 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419745 S 2 1 0 TRIM58 AK1 esv1620378 1 246100567 246100567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338244 S 2 1 0 TRIM58 HuRef nsv5321 1 246109619 246145574 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5104,nssv8310 M 9 0 2 OR2W3,TRIM58 NA12156,NA19129 dgv27n16 1 246116403 246124718 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436268,nsv435797 M 2 0 2 "" NA15510,NA18505 nsv508706 1 246116916 246131589 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620158,nssv622793,nssv617439,nssv619004 M 4 0 4 OR2W3 CHM,NA10860,NA15510,NA18994 esv2567586 1 246117724 246124799 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282022 S 1 0 1 "" NA18507 dgv3e194 1 246117913 246124535 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2330046,esv2167487 M 1 0 1 "" NA18507 esv991883 1 246117970 246124288 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564772 S 3 0 1 "" HuRef nsv511754 1 246118054 246124259 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626401 S 1 0 1 "" 1 esv2976 1 246118074 246124316 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25417 S 1 0 1 Single Asian sample YH "" YH nsv498714 1 246118101 246124276 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585430 S 9 0 1 "" esv5869 1 246118104 246124268 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28310 S 1 0 1 "" SJK esv1333498 1 246124524 246124524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013278 S 2 1 0 "" HuRef esv2750832 1 246127582 247134313 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982109,essv6982110,essv6982111,essv6986087 M 771 1 0 LOC646627,MIR3124,OR14C36,OR14I1,OR2AK2,OR2G6,OR2L13,OR2L1P,OR2L2,OR2L3,OR2L8,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,OR2T8,SH3BP5L,ZNF672,ZNF692 BEC_521 esv1334450 1 246167115 246167115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728225 S 2 1 0 "" HuRef esv29107 1 246191289 246192385 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21379 S 451 1 0 OR2L13 NA18517 nsv873444 1 246191920 246235688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519203 S 6533 1 0 OR2AK2,OR2L13,OR2L1P SP80982 nsv9080 1 246194494 246196693 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27638 S 31 1 0 Samples from several populations that are part of the HapMap project. OR2AK2,OR2L13 NA19173 nsv508070 1 246194656 246200656 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618528,nssv622309,nssv621494,nssv624237 M 4 0 4 OR2AK2,OR2L13 CHM,NA10860,NA15510,NA18994 nsv873445 1 246195863 246307735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569860 S 6533 0 1 OR2AK2,OR2L13,OR2L1P,OR2L2,OR2L3 IS31729 nsv9091 1 246209746 246214292 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25967,nssv27746 M 31 0 2 Samples from several populations that are part of the HapMap project. OR2L13 NA19132,NA19173 nsv827786 1 246221013 246221634 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438634 S 31 0 1 OR2L13,OR2L1P NA18973 nsv827797 1 246221013 246222049 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424799,nssv1425564,nssv1431880,nssv1423986,nssv1433480,nssv1422425,nssv1428877 M 31 0 7 OR2L13,OR2L1P AK12,AK2,AK20,AK4,NA18526,NA18552,NA18968 esv29477 1 246221157 246222161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12979 S 451 0 3 OR2L13 NA12004,NA18861,NA19190 esv2613716 1 246274098 246275545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209058 S 1 0 1 OR2L13 NA18507 esv2035728 1 246274239 246274956 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580098 S 1 0 1 OR2L13 NA18507 esv3861 1 246274275 246274951 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26302 S 1 0 1 Single Asian sample YH OR2L13 YH esv267534 1 246292280 246292365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515962 S 157 1 0 Samples from several populations that are part of the HapMap project. OR2L13 NA12873 dgv17e55 1 246309151 246884005 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2750833,esv2750834 M 771 0 2 OR14C36,OR2G6,OR2L13,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6 BEC_592,BEC_693 dgv564n71 1 246311343 246505829 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873449,nsv873446 M 6533 2 0 OR2L13,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2T33 SP51388,SP81194 dgv565n71 1 246311826 246522135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873447,nsv873448 M 6533 0 2 OR2L13,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5,OR2T33 IS40490,SP50061 nsv468861 1 246327952 246482285 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543923 S 1557 1 0 OR2L13,OR2M1P,OR2M2,OR2M3,OR2M4,OR2M5 1780854079_A nsv9103 1 246386026 246558125 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26192 S 31 0 1 Samples from several populations that are part of the HapMap project. OR2M2,OR2M3,OR2M4,OR2M7,OR2T12,OR2T33 NA19132 dgv566n71 1 246389102 246701133 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873455,nsv873450,nsv873453 M 6533 3 0 OR14C36,OR2M2,OR2M3,OR2M4,OR2M7,OR2T1,OR2T12,OR2T2,OR2T33,OR2T4,OR2T6 MS25357,SP51014,SP56580 dgv567n71 1 246389102 246837884 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873452,nsv873454,nsv873451 M 6533 4 0 OR14C36,OR2G6,OR2M2,OR2M3,OR2M4,OR2M7,OR2T1,OR2T10,OR2T12,OR2T2,OR2T29,OR2T3,OR2T33,OR2T34,OR2T4,OR2T5,OR2T6 SP52137,SP53401,SP54405,SP81263 esv23828 1 246417306 246418897 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16385 S 451 12 0 "" NA07045,NA11931,NA12004,NA12239,NA12287,NA12489,NA18511,NA18523,NA18858,NA19108,NA19129,NA19257 esv2515212 1 246417374 246419155 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383103 S 1 0 1 "" NA18507 nsv873456 1 246417399 246495261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539768 S 6533 0 1 OR2M3,OR2M4 MS14495 dgv568n71 1 246417399 246547391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873458,nsv873457,nsv873460 M 6533 0 4 OR2M3,OR2M4,OR2T12,OR2T33 IS31330,IS31373,MS13426,MS23670 nsv873459 1 246417399 246613581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569861,nssv1570229 M 6533 0 2 OR14C36,OR2M3,OR2M4,OR2M7,OR2T12,OR2T33,OR2T4 IS31729,IS31837 esv1772703 1 246417663 246417663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955895 S 2 1 0 "" HuRef esv1706280 1 246417989 246418509 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987592 S 2 0 1 "" HuRef nsv511148 1 246419262 246428962 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625977 S 1 0 1 "" 1 nsv873461 1 246482285 246613581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540760 S 6533 1 0 OR14C36,OR2M7,OR2T12,OR2T33,OR2T4 MS15022 nsv873462 1 246482285 246882811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551489 S 6533 0 1 OR14C36,OR2G6,OR2M7,OR2T1,OR2T10,OR2T11,OR2T12,OR2T2,OR2T27,OR2T29,OR2T3,OR2T33,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6 MS18910 nsv873463 1 246496342 246522135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515719 S 6533 0 1 OR2T33 SP56260 esv1114163 1 246536735 246536735 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770159 S 2 1 0 "" HuRef esv1438113 1 246536823 246536823 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851309 S 2 1 0 "" HuRef dgv20n17 1 246554261 246913992 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437273,nsv437274 M 60 0 2 OR14C36,OR14I1,OR2G6,OR2M7,OR2T1,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6 NA19103,NA19221 essv15752 1 246566732 246741718 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR14C36,OR2T1,OR2T2,OR2T3,OR2T4,OR2T5,OR2T6 NA19131 dgv206e1 1 246566732 246931997 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv862,essv17008,essv5503,esv668 M 271 0 0 OR14C36,OR14I1,OR2G6,OR2T1,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6 NA18632,NA19000,NA19144 nsv428357 1 246566732 246944046 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453397,nssv453408,nssv453430,nssv453498,nssv453476,nssv453242,nssv453509,nssv453441,nssv453487,nssv453419,nssv453452,nssv453465 M 62 0 12 OR14C36,OR14I1,OR2G6,OR2T1,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6 HGDP00460,HGDP00463,HGDP00471,HGDP00473,HGDP00476,HGDP00986,HGDP01086,HGDP01089,HGDP01093,NA18498,NA19113,NA19257 nsv5332 1 246570993 246679548 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv658 S 9 0 1 OR14C36,OR2T1,OR2T4,OR2T6 NA19240 nsv9114 1 246579531 246581375 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27926 S 31 1 0 Samples from several populations that are part of the HapMap project. OR14C36 NA18517 esv272521 1 246580182 246580415 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580463,essv2580592,essv2579118,essv2579475 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv2750835 1 246589303 247124862 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986320,essv6983006,essv6988613 M 771 1 0 LOC646627,MIR3124,OR14I1,OR2G6,OR2T1,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6,SH3BP5L,ZNF672,ZNF692 BEC_533 nsv9125 1 246590118 246592654 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26167,nssv23986,nssv24580,nssv24274,nssv26384 M 31 5 0 Samples from several populations that are part of the HapMap project. OR2T4 NA07029,NA07048,NA12740,NA18504,NA18572 dgv569n71 1 246590885 246728509 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873465,nsv873464 M 6533 29 2 OR2T1,OR2T2,OR2T3,OR2T4,OR2T5,OR2T6 IS33192,IS33684,IS34363,IS40149,IS41204,MS10121,MS11078,MS11165,MS13032,MS13148,MS13872,MS13957,MS15487,MS16160,MS16809,MS17689,MS18799,MS18940,MS19637,MS21071,MS21626,MS21674,MS21937,MS22000,MS23791,MS23798,MS24450,MS24732,MS25440,MS25675,SP53937 dgv570n71 1 246590885 246740804 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873467,nsv873466 M 6533 4 0 OR2T1,OR2T2,OR2T3,OR2T4,OR2T5,OR2T6 IS36273,MS14961,MS15715,MS26119 nsv873468 1 246590885 246792611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577093 S 6533 0 1 OR2G6,OR2T1,OR2T2,OR2T29,OR2T3,OR2T4,OR2T5,OR2T6 IS34358 dgv571n71 1 246590885 246901621 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873469,nsv873476,nsv873471,nsv873470,nsv873472,nsv873473,nsv873479,nsv873478,nsv873477 M 6533 42 0 OR2G6,OR2T1,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T4,OR2T5,OR2T6 IS30244,IS31198,IS31543,IS31602,IS35010,IS35174,IS35253,IS35379,IS37172,IS37985,IS38441,IS39243,IS39258,IS39832,IS40396,IS41168,IS41634,IS41944,MS11271,MS11276,MS11384,MS11569,MS12092,MS13770,MS15117,MS15515,MS15782,MS16039,MS16357,MS17359,MS18240,MS18251,MS18531,MS18553,MS18935,MS18956,MS19891,MS23117,MS23949,MS24503,MS25345,SP81504 nsv511035 1 246598893 246646894 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624367,nssv618638 M 4 0 0 OR2T1,OR2T6 CHM,NA18994 esv2311706 1 246612815 246613457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863156 S 1 0 1 "" NA18507 nsv9136 1 246612827 246615355 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24297,nssv26561,nssv21418,nssv26373,nssv28009,nssv24564,nssv24280,nssv22430,nssv26398,nssv25719,nssv23067,nssv23682,nssv26186 M 31 6 7 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA12740,NA12872,NA18517,NA18563,NA18853,NA18860,NA18975,NA19007,NA19132,NA19144 esv2603087 1 246612863 246614859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331337 S 1 0 1 "" NA18507 esv22745 1 246612917 246614970 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20123,esv10109 M 451 1 6 "" NA11931,NA12239,NA12749,NA18858,NA18907,NA19147,NA19257 nsv820904 1 246612917 246614970 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421124 S 1 0 1 "" NA10851 esv1541894 1 246613154 246613222 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774059 S 2 0 1 "" HuRef esv1018953 1 246613270 246614358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913046 S 2 0 1 "" HuRef esv1048994 1 246614567 246614567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969868 S 2 1 0 "" HuRef nsv5343 1 246622617 246646934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11211,nssv5113,nssv6241,nssv3849 M 9 4 0 OR2T1 NA12156,NA12878,NA15510,NA19129 nsv509801 1 246624065 246624065 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621120 S 4 1 0 "" NA15510 nsv508724 1 246626181 246626181 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619838 S 4 1 0 "" NA10860 esv1010251 1 246632541 246634519 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565060 S 3 1 0 "" HuRef esv2614714 1 246633630 246634289 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248678 S 1 1 0 "" NA18507 esv1242261 1 246634150 246634150 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621561 S 2 1 0 "" HuRef esv27081 1 246637784 246639336 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21224 S 451 10 10 "" NA06985,NA07037,NA11894,NA11931,NA12156,NA12287,NA12749,NA12776,NA15510,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19114,NA19240,NA19257 nsv820463 1 246637784 246639454 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421135 S 1 0 1 "" NA10851 nsv873474 1 246638776 246771244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525425,nssv1541679 M 6533 2 0 OR2G6,OR2T2,OR2T3,OR2T5 MS15428,SP56580 dgv572n71 1 246638776 246837884 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv873475,nsv873490 M 6533 37 3 OR2G6,OR2T10,OR2T2,OR2T29,OR2T3,OR2T34,OR2T5 IS31096,IS31564,IS32322,IS34005,IS34304,IS34395,IS35018,IS35954,IS35993,IS38008,IS38056,IS38271,IS38293,IS38379,IS38436,IS38646,IS39011,IS39494,MS10065,MS10282,MS10756,MS10843,MS13448,MS13538,MS13791,MS13916,MS15779,MS15940,MS16286,MS16398,MS17130,MS17271,MS17678,MS18819,MS20020,MS21218,MS22166,MS22748,SP58209,SP58537 nsv7193 1 246640772 246900013 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3853,nssv9748,nssv10620,nssv10616,nssv6250,nssv3850,nssv5122,nssv10617,nssv669,nssv9433,nssv9432,nssv5132 M 9 0 0 OR2G6,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T5 NA12156,NA12878,NA18507,NA18517,NA18956,NA19129,NA19240 dgv573n71 1 246656098 246735822 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873481,nsv873480 M 6533 3 0 OR2T2,OR2T3,OR2T5 SP50025,SP54774,SP55684 dgv207e1 1 246662304 246884005 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12021,essv3335 M 271 0 0 OR2G6,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T5 NA18948,NA19141 esv26090 1 246669851 246701820 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11832,esv12971,esv15910,esv20556,esv16230 M 451 6 4 OR2T2 NA12878,NA18505,NA18508,NA18517,NA18858,NA19108,NA19240,NA19257 nsv9147 1 246673290 246677682 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24570,nssv26546,nssv26402,nssv27503,nssv23992 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA12740,NA18537,NA19240 nsv827809 1 246673553 246674153 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438129 S 31 0 1 "" NA18547 esv2179040 1 246676214 246676574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680924 S 1 0 1 "" NA18507 esv32670 1 246676880 246713386 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96839,essv101067,essv95664,essv93092,essv94879 M 51 2 3 OR2T2,OR2T3 21659,21693,21841,21863,22231 nsv873482 1 246680271 246712197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515914 S 6533 1 0 OR2T2,OR2T3 SP56307 nsv873483 1 246680271 246771244 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584615,nssv1536039 M 6533 1 1 OR2G6,OR2T2,OR2T3,OR2T5 IS37088,MS12606 nsv873484 1 246680271 246792611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556003 S 6533 0 1 OR2G6,OR2T2,OR2T29,OR2T3,OR2T5 MS21738 dgv574n71 1 246680271 246806139 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873485,nsv873495 M 6533 2 0 OR2G6,OR2T2,OR2T29,OR2T3,OR2T34,OR2T5 IS41948,SP51014 dgv575n71 1 246680271 246882811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873492,nsv873491,nsv873486,nsv873488,nsv873489,nsv873487,nsv873493 M 6533 14 0 OR2G6,OR2T10,OR2T11,OR2T2,OR2T27,OR2T29,OR2T3,OR2T34,OR2T35,OR2T5 IS30683,IS31218,IS35242,IS36248,IS37044,IS37621,IS38037,IS38166,MS10311,MS10465,MS15805,MS16477,MS17819,SP54798 nsv9158 1 246682351 246686198 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24573,nssv26557,nssv28210 M 31 3 0 Samples from several populations that are part of the HapMap project. OR2T2 NA18502,NA18504,NA19221 nsv442630 1 246687782 246702344 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514922 1 246689344 246696480 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628464 S 1414 0 0 "" nsv9169 1 246700399 246703149 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24888,nssv26392,nssv26716,nssv28260,nssv28094 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517,NA18860,NA19221 nsv873494 1 246701133 246837884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591189,nssv1577851 M 6533 0 2 OR2G6,OR2T10,OR2T29,OR2T3,OR2T34,OR2T5 IS34599,IS38650 nsv5354 1 246707294 246754694 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3852,nssv1824 M 9 0 2 OR2G6,OR2T5 NA12878,NA18555 nsv821623 1 246711567 246857031 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421235,nssv1421246 M 31 0 2 OR2G6,OR2T10,OR2T11,OR2T29,OR2T34,OR2T5 esv7998 1 246713193 246794701 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30439 S 1 0 0 OR2G6,OR2T29,OR2T5 SJK nsv499748 1 246726121 246780547 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585491 S 9 0 0 OR2G6 esv1764131 1 246733501 246734062 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867958 S 2 0 0 "" HuRef esv1230002 1 246735283 246736959 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873678 S 2 0 0 "" HuRef nsv508707 1 246740153 246767758 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617450,nssv622794,nssv620159 M 4 0 3 OR2G6 CHM,NA15510,NA18994 esv29469 1 246740573 246743243 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20904 S 451 1 0 "" NA19257 nsv498715 1 246740696 246749190 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585431 S 9 0 1 "" nsv873496 1 246741845 246771244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512310,nssv1513023 M 6533 2 0 OR2G6 SP55424,SP55670 esv1392907 1 246749189 246758249 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118790 S 2 0 0 OR2G6 HuRef nsv442997 1 246751571 246752521 CNV Gain Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649521 M 52 OR2G6 dgv208e1 1 246754133 246931997 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10856,essv10455,essv10555,essv14863,essv10361,essv10788,essv5185,essv22951,essv8114,essv10068,essv16090,essv8329,essv13732,essv15776,essv15465,essv10087,essv14576,essv12319,essv16426,essv21343,essv22471,essv22419,essv18649,essv15893,essv7813,essv16689,essv11707,essv14303,essv4048,essv20914,essv22315,essv9449,essv8824,essv17280,essv10214,essv11433,essv8486,essv19980,essv12992,essv4713,essv9142,essv24829,essv17132,essv15025,essv16758,essv19400,essv11889,essv14742,essv16289,essv5906,essv24649,essv9588,essv23399,essv2283,essv6887 M 271 0 0 OR14I1,OR2T10,OR2T11,OR2T27,OR2T29,OR2T34,OR2T35 NA06985,NA07000,NA07357,NA10854,NA10861,NA11829,NA11840,NA12234,NA12761,NA12801,NA12813,NA12878,NA18505,NA18508,NA18515,NA18516,NA18522,NA18523,NA18550,NA18558,NA18605,NA18611,NA18622,NA18635,NA18856,NA18857,NA18859,NA18860,NA18871,NA18872,NA18966,NA19099,NA19100,NA19103,NA19119,NA19129,NA19130,NA19131,NA19138,NA19139,NA19141,NA19142,NA19152,NA19154,NA19159,NA19161,NA19171,NA19194,NA19202,NA19206,NA19208,NA19221,NA19222,NA19223,NA19240 nsv160296 1 246760996 246767346 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv178874 M 24 "" esv27618 1 246764341 246767378 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16543 S 451 1 0 "" NA19257 nsv469750 1 246768569 246944046 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649771 M 265 0 2 Samples from several populations that are part of the HapMap project. OR14I1,OR2T10,OR2T11,OR2T27,OR2T29,OR2T34,OR2T35 nsv827820 1 246768818 246796807 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436399 S 31 1 0 OR2T29 NA18542 esv1417071 1 246773620 246774406 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876802 S 2 0 0 "" HuRef dgv576n71 1 246778760 246850868 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873497,nsv873498 M 6533 5 0 OR2T10,OR2T29,OR2T34 SP54657,SP55926,SP80992,SP81003,SP81059 nsv5365 1 246782057 246865873 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3854 S 9 0 1 OR2T10,OR2T11,OR2T29,OR2T34 NA12878 dgv577n71 1 246792611 246868624 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873502,nsv873501,nsv873499,nsv873505,nsv873504,nsv873511,nsv873512,nsv873513 M 6533 0 44 OR2T10,OR2T11,OR2T34,OR2T35 SP50025,SP50032,SP50082,SP50118,SP50134,SP50754,SP50856,SP50925,SP50979,SP51014,SP51060,SP51206,SP51457,SP51493,SP52117,SP52131,SP52531,SP52835,SP52925,SP53242,SP53425,SP54058,SP54373,SP54384,SP54405,SP54524,SP54604,SP54663,SP54769,SP55557,SP55660,SP55747,SP55868,SP55971,SP56007,SP56012,SP56114,SP56307,SP57314,SP57418,SP80913,SP80932,SP80953,SP81091 nsv9180 1 246794049 246795985 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23983,nssv25168,nssv24895,nssv26856,nssv26565,nssv28310 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA10863,NA18502,NA18504,NA18572,NA18860,NA19221 dgv116n67 1 246794322 246863301 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827831,nsv827842,nsv827853 M 31 0 3 OR2T10,OR2T11,OR2T34 AK12,AK6,NA18570 esv29940 1 246794522 246875051 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84179 S 3 0 1 OR2T10,OR2T11,OR2T34,OR2T35 WATSON esv33052 1 246794551 246863305 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95080,essv98260,essv94794,essv95696,essv95730,essv93088,essv93083,essv101660,essv95772,essv99019,essv93665,essv96686,essv99952,essv96014,essv93225,essv99694,essv95002,essv92550,essv98026,essv99356,essv99368,essv94186 M 51 4 17 OR2T10,OR2T11,OR2T34 21721,21772,21791,21841,21863,21909,21911,21938,21972,22011,22086,22127,22170,22217,22231,22233,22259,22275,22335,22394 esv27363 1 246795729 246862141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17617,esv16897,esv21013 M 451 0 16 OR2T10,OR2T11,OR2T34 NA06985,NA07045,NA11995,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19129,NA19240,NA19257 dgv578n71 1 246798472 246868624 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873506,nsv873500 M 6533 2 0 OR2T10,OR2T11,OR2T34,OR2T35 SP54816,SP55670 nsv873503 1 246802692 246856790 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506813,nssv1509219,nssv1512828,nssv1508475,nssv1503943,nssv1503997,nssv1518613,nssv1518082,nssv1513475,nssv1500275,nssv1512933,nssv1506469,nssv1512768,nssv1515807,nssv1512853,nssv1509425,nssv1502350,nssv1517301,nssv1502131,nssv1501840,nssv1501282,nssv1508621,nssv1515841,nssv1512601,nssv1500974,nssv1507122,nssv1507678,nssv1512791,nssv1501154,nssv1518994,nssv1500916,nssv1501018,nssv1507018,nssv1504666,nssv1501772,nssv1513588,nssv1507583,nssv1515752,nssv1513742,nssv1499193,nssv1501211,nssv1516244,nssv1508686,nssv1518370,nssv1508709,nssv1512462,nssv1499542,nssv1515975,nssv1514569,nssv1506534,nssv1518676,nssv1503206,nssv1510588,nssv1517598,nssv1502918,nssv1515594,nssv1517124,nssv1509127,nssv1499255,nssv1515720,nssv1516267,nssv1512811,nssv1512494,nssv1503679 M 6533 2 62 OR2T10,OR2T11,OR2T34 SP50102,SP50179,SP50182,SP50520,SP50832,SP50870,SP50876,SP50915,SP50954,SP50989,SP50997,SP51022,SP51042,SP51086,SP51450,SP52003,SP52094,SP52137,SP52160,SP52700,SP54356,SP54370,SP54407,SP54456,SP54477,SP54552,SP54575,SP54606,SP54685,SP54720,SP54722,SP54753,SP54768,SP54790,SP54979,SP55539,SP55547,SP55565,SP55621,SP55630,SP55637,SP55642,SP55647,SP55655,SP55787,SP55803,SP55842,SP56022,SP56224,SP56260,SP56267,SP56289,SP56294,SP56331,SP56710,SP56734,SP57193,SP57250,SP57328,SP57463,SP57518,SP57856,SP57905,SP80928 dgv579n71 1 246802692 246888439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873514,nsv873508,nsv873507,nsv873509 M 6533 0 10 OR2T10,OR2T11,OR2T27,OR2T34,OR2T35 SP52299,SP52946,SP55684,SP55694,SP56084,SP56138,SP57368,SP57379,SP57983,SP58155 nsv873510 1 246802692 246966723 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512311 S 6533 1 0 OR14I1,OR2T10,OR2T11,OR2T27,OR2T34,OR2T35 SP55424 nsv9191 1 246804406 246862817 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25707,nssv21778,nssv26724,nssv26575,nssv25448,nssv25175,nssv28409,nssv22108,nssv28360,nssv27020,nssv28144,nssv24277 M 31 1 9 Samples from several populations that are part of the HapMap project. OR2T10,OR2T11,OR2T34 NA10863,NA18502,NA18504,NA18517,NA18572,NA18860,NA19144,NA19221,NA19240 nsv5376 1 246805427 246838979 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8331 S 9 1 0 OR2T10 NA12156 dgv5n14 1 246806139 246859583 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433195,nsv433511,nsv433196,nsv433193 M 9 0 4 OR2T10,OR2T11 NA12878,NA18555,NA19129,NA19240 esv2421359 1 246806139 246863836 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5068973,essv5083273,essv5004723,essv5097020,essv5105652,essv5033538,essv5107766,essv5110738,essv5022848,essv5029695,essv5070591,essv5075816,essv5118084,essv5154881,essv5007543,essv5120275,essv5106828,essv5109985,essv5135654,essv5093605,essv5087721,essv5081358,essv5023997,essv5019912,essv5090674,essv5117760,essv5091265,essv5022524,essv5055728,essv5130632,essv5131334,essv5154959,essv5018175,essv5018049,essv5160251,essv5016082,essv5132447,essv5161209,essv5006818,essv5160478,essv5146280,essv5011649,essv5026906,essv5028578,essv5058111,essv5145685,essv5096709,essv5061637,essv5038484,essv5136453,essv5076900,essv5090838,essv5069474,essv5115592,essv5161177,essv5022184,essv5006756,essv5101288,essv5030909,essv5123318,essv5093982,essv5104325,essv5080664,essv5151778,essv5044737,essv5022897,essv5133073,essv5087376,essv5099983,essv5078026,essv5019398,essv5138532,essv5129030,essv5087834,essv5120971,essv5098948,essv5011248,essv5131955,essv5092325,essv5001965,essv5113296,essv5021158,essv5026927,essv5151709,essv5012245,essv5020890,essv5092824,essv5064953,essv5051993,essv5072211,essv5052279,essv5024015,essv5020827,essv5074922,essv5055863,essv5121400,essv5082727,essv5154342,essv5048158,essv5059168,essv5019645,essv5043614,essv5128823,essv5020619,essv5012841,essv5120983,essv5005560,essv5140666,essv5105534,essv5147948,essv5003472,essv5033670,essv5135664,essv5041542,essv5078030,essv5090019,essv5091698,essv5107901,essv5065864,essv5139361,essv5062619,essv5137355,essv5158889,essv5007657,essv5050378,essv5119660,essv5159986,essv5114761,essv5152258,essv5037471,essv5101009,essv5136619,essv5118382,essv5079794,essv5119741,essv5022752,essv5088257,essv5079809,essv5006978,essv5038198,essv5109259,essv5037281,essv5063441,essv5154728,essv5081548,essv5061991,essv5125705,essv5079513,essv5151698,essv5016362,essv5156203,essv5089759,essv5058818,essv5141066,essv5021496,essv5140830,essv5129943,essv5119985,essv5062993,essv5069137,essv5030485,essv5021783,essv5065509,essv5017100,essv5077425,essv5154198,essv5030218,essv5019774,essv5100548,essv5037832,essv5157558,essv5020643,essv5039407,essv5069259,essv5033269,essv5048778,essv5120185,essv5089647,essv5150504,essv5108480,essv5060184,essv5128527,essv5023091,essv5106270,essv5115664,essv5160671,essv5125086,essv5137891,essv5123287,essv5131682,essv5024210,essv5017623,essv5044193,essv5126939,essv5120633,essv5066684,essv5079112,essv5082006,essv5057479,essv5123521,essv5091685,essv5074592,essv5026076,essv5030161,essv5022716,essv5037748,essv5042703,essv5007575,essv5142939,essv5006833,essv5147790,essv5049719,essv5130565,essv5130044,essv5005910,essv5068686,essv5083127,essv5036357,essv5145516,essv5116647,essv5058655,essv5105324,essv5050749,essv5089205,essv5078870,essv5128329,essv5133721,essv5019962,essv5025650,essv5085311,essv5140044,essv5027081,essv5144789,essv5096319,essv5053264,essv5103933,essv5134615,essv5003841,essv5018986,essv5025893,essv5140515,essv5084864,essv5074138,essv5110593,essv5002108,essv5122374,essv5044203,essv5115152,essv5076150,essv5123259,essv5048163,essv5003970,essv5066145,essv5002553,essv5129150,essv5003287,essv5053031,essv5091485,essv5064700,essv5030156,essv5068652,essv5107103,essv5106860,essv5033980,essv5160367,essv5055572,essv5148458,essv5005650,essv5003147,essv5136252,essv5077491,essv5013422,essv5088570,essv5075145,essv5007881,essv5077147,essv5038509,essv5064679,essv5101846,essv5093794,essv5055017,essv5033254,essv5157783,essv5127742,essv5112617,essv5134117,essv5004671,essv5024371,essv5075998,essv5053750,essv5146763,essv5067089,essv5015117,essv5078935,essv5003191,essv5085030,essv5032071,essv5128857,essv5132043,essv5023038,essv5066001,essv5022198,essv5096828,essv5132902,essv5041335,essv5091210,essv5117558,essv5143053,essv5084075,essv5062898,essv5139919,essv5048855,essv5120876,essv5091351,essv5107978,essv5058592,essv5032053,essv5098606,essv5088349,essv5041796,essv5041438,essv5095742,essv5007616,essv5144547,essv5160632,essv5142477,essv5108365,essv5120285,essv5126338,essv5047249,essv5039518,essv5115707,essv5074845,essv5091748,essv5107574,essv5123320,essv5052053,essv5074083,essv5153434,essv5058181,essv5065925,essv5048692,essv5132616,essv5074800,essv5100891,essv5125237,essv5065934,essv5131199,essv5094439,essv5013772,essv5037221,essv5136644,essv5130767,essv5139049,essv5121075,essv5109296,essv5045899,essv5036668,essv5035902,essv5060873,essv5097257,essv5030024,essv5153078,essv5082298,essv5040163,essv5114866,essv5094953,essv5081416,essv5155280,essv5009380,essv5063897,essv5092614,essv5059233,essv5153990,essv5035008,essv5090585,essv5153388,essv5120231,essv5145024,essv5062467,essv5045275,essv5157348,essv5077692,essv5143061,essv5073467,essv5019482,essv5145185,essv5086297,essv5013017,essv5107029,essv5035114,essv5075036,essv5013677,essv5102650,essv5039021,essv5136566,essv5122598,essv5055175,essv5014996,essv5161202,essv5145010,essv5120045,essv5086942,essv5023399,essv5040772,essv5037494,essv5151797,essv5004573,essv5038668,essv5159867,essv5147700,essv5065266,essv5042138,essv5034319,essv5126178,essv5030451,essv5097752,essv5027476,essv5016509,essv5031539 M 1184 0 420 OR2T10,OR2T11 NA06984,NA06985,NA07000,NA07031,NA07045,NA07357,NA10836,NA10845,NA10850,NA10852,NA10854,NA10859,NA10861,NA10863,NA11829,NA11840,NA11881,NA11891,NA11892,NA11917,NA11918,NA11930,NA11994,NA11995,NA12045,NA12145,NA12234,NA12275,NA12282,NA12286,NA12386,NA12399,NA12761,NA12766,NA12767,NA12775,NA12778,NA12801,NA12813,NA12817,NA12818,NA12827,NA12829,NA12830,NA12878,NA12891,NA12892,NA17966,NA17967,NA17972,NA17974,NA17975,NA17976,NA17977,NA17980,NA17983,NA17989,NA18107,NA18120,NA18127,NA18131,NA18134,NA18139,NA18141,NA18150,NA18151,NA18156,NA18157,NA18488,NA18498,NA18499,NA18504,NA18505,NA18508,NA18510,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18534,NA18536,NA18550,NA18555,NA18558,NA18559,NA18561,NA18570,NA18572,NA18573,NA18594,NA18602,NA18605,NA18611,NA18622,NA18632,NA18635,NA18645,NA18670,NA18674,NA18682,NA18704,NA18745,NA18748,NA18852,NA18855,NA18857,NA18859,NA18860,NA18867,NA18868,NA18869,NA18871,NA18872,NA18873,NA18875,NA18909,NA18911,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18948,NA18957,NA18966,NA18967,NA18973,NA18976,NA18978,NA19000,NA19027,NA19028,NA19031,NA19035,NA19038,NA19041,NA19044,NA19046,NA19054,NA19060,NA19062,NA19066,NA19070,NA19085,NA19095,NA19099,NA19101,NA19102,NA19103,NA19107,NA19113,NA19115,NA19116,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19129,NA19130,NA19131,NA19137,NA19138,NA19139,NA19141,NA19142,NA19144,NA19149,NA19150,NA19151,NA19152,NA19154,NA19159,NA19160,NA19161,NA19171,NA19174,NA19178,NA19179,NA19180,NA19185,NA19193,NA19194,NA19197,NA19200,NA19201,NA19202,NA19206,NA19208,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19226,NA19236,NA19239,NA19240,NA19247,NA19248,NA19249,NA19257,NA19258,NA19308,NA19313,NA19321,NA19327,NA19328,NA19334,NA19359,NA19371,NA19373,NA19374,NA19375,NA19380,NA19384,NA19394,NA19429,NA19434,NA19436,NA19437,NA19438,NA19439,NA19440,NA19445,NA19451,NA19452,NA19457,NA19462,NA19466,NA19467,NA19472,NA19625,NA19651,NA19652,NA19654,NA19656,NA19657,NA19660,NA19664,NA19665,NA19676,NA19677,NA19685,NA19686,NA19700,NA19701,NA19702,NA19704,NA19711,NA19712,NA19718,NA19720,NA19721,NA19725,NA19726,NA19727,NA19750,NA19756,NA19774,NA19788,NA19795,NA19796,NA19819,NA19828,NA19904,NA19909,NA19914,NA19915,NA19917,NA19919,NA20276,NA20281,NA20287,NA20288,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20317,NA20322,NA20332,NA20333,NA20335,NA20340,NA20342,NA20343,NA20346,NA20347,NA20350,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20515,NA20527,NA20528,NA20541,NA20581,NA20586,NA20756,NA20761,NA20774,NA20797,NA20806,NA20811,NA20813,NA20815,NA20818,NA20850,NA20854,NA20859,NA20862,NA20870,NA20871,NA20888,NA20890,NA20895,NA20896,NA20898,NA20904,NA21092,NA21100,NA21101,NA21104,NA21105,NA21109,NA21113,NA21115,NA21117,NA21141,NA21295,NA21300,NA21302,NA21303,NA21308,NA21312,NA21313,NA21317,NA21320,NA21336,NA21339,NA21352,NA21353,NA21356,NA21357,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21378,NA21379,NA21381,NA21382,NA21383,NA21385,NA21386,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21402,NA21404,NA21408,NA21414,NA21418,NA21421,NA21423,NA21424,NA21447,NA21455,NA21473,NA21476,NA21477,NA21478,NA21480,NA21509,NA21519,NA21521,NA21523,NA21525,NA21528,NA21574,NA21575,NA21576,NA21578,NA21582,NA21599,NA21601,NA21616,NA21619,NA21620,NA21650,NA21678,NA21682,NA21686,NA21693,NA21719,NA21722,NA21723,NA21733,NA21739,NA21784 nsv433194 1 246811393 246882182 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463075 S 9 0 1 Samples from several populations that are part of the HapMap project. OR2T10,OR2T11,OR2T27,OR2T35 NA18517 nsv471517 1 246812583 246861726 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547886,nssv547885 M 3 OR2T10,OR2T11 dgv580n71 1 246812825 246862475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873517,nsv873515,nsv873516 M 6533 0 25 OR2T10,OR2T11 SP50176,SP50936,SP52058,SP52175,SP52439,SP52497,SP53791,SP53969,SP54189,SP54381,SP54424,SP54607,SP55100,SP55125,SP55834,SP55984,SP56108,SP56380,SP56467,SP56795,SP57067,SP57217,SP57941,SP80936,SP81010 nsv442637 1 246815817 246863836 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR2T10,OR2T11 nsv827864 1 246820269 246862122 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438635 S 31 0 1 OR2T10,OR2T11 NA18973 nsv514048 1 246820608 246862080 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628114 S 1414 0 1 OR2T10,OR2T11 nsv827875 1 246828720 246840369 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438636 S 31 0 1 "" NA18973 nsv442999 1 246856102 246857052 CNV Loss Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649522 M 52 OR2T11 nsv471355 1 246856102 246857052 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548059,nssv548058 M 3 OR2T11 nsv9202 1 246865706 246869552 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25952,nssv27150,nssv28449 M 31 3 0 Samples from several populations that are part of the HapMap project. OR2T35 NA18502,NA18504,NA19221 nsv9214 1 246874227 246878610 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26864 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 esv22401 1 246874945 246875514 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13242 S 451 4 0 "" NA18858,NA18861,NA18909,NA19240 nsv820323 1 246874945 246875514 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421146 S 1 0 1 "" NA10851 nsv9225 1 246882799 246884393 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28194 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv873518 1 246892523 247032995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523079 S 6533 1 0 LOC646627,OR14I1 SP53616 nsv5387 1 246904382 246948743 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv679 S 9 0 1 OR14I1 NA19240 esv26076 1 246904732 246906033 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14491 S 451 1 0 "" NA12776 esv2392915 1 246904771 246905133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586497 S 1 0 1 "" NA18507 esv5310 1 246906146 246907648 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27751 S 1 0 1 Single Asian sample YH "" YH esv32631 1 246909448 246912408 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97177 S 51 0 1 OR14I1 22075 nsv433522 1 246924302 246941808 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463403 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv9236 1 246931629 246941926 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26734,nssv27028,nssv28244,nssv27280,nssv27846 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA18860,NA19173,NA19240 esv22304 1 246932508 246942695 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17440,esv11130 M 451 0 11 "" NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19114,NA19190,NA19240,NA19257 esv2421720 1 246933526 246942931 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5147682,essv5019786,essv5097840,essv5134492,essv5137967,essv5064567,essv5026493,essv5143787,essv5026169,essv5158837,essv5159524,essv5159919,essv5012794,essv5041644,essv5120363,essv5102179,essv5042009,essv5057505,essv5088796,essv5131014,essv5052364,essv5161028,essv5125839,essv5037036,essv5073406,essv5101342,essv5147149,essv5062033,essv5038692,essv5096746,essv5088740,essv5098944,essv5114922,essv5060939,essv5131898,essv5146713,essv5133322,essv5041838,essv5077305,essv5024929,essv5119661,essv5083785,essv5139179,essv5135176,essv5039006,essv5044086,essv5035036,essv5054699,essv5150577,essv5088239,essv5140090,essv5039750,essv5144581,essv5105490,essv5077518,essv5028352,essv5039601,essv5032022,essv5021265,essv5113725,essv5108083,essv5016159,essv5057002,essv5145596,essv5060433,essv5086739,essv5052773,essv5111117,essv5075551,essv5097673,essv5018656,essv5010780,essv5117117,essv5120914,essv5116215,essv5077067,essv5089239,essv5105150,essv5061500,essv5007999,essv5039317,essv5056350,essv5129189,essv5064462,essv5058098,essv5014812,essv5052606,essv5145173,essv5043214,essv5154691,essv5040561,essv5096336,essv5119451,essv5154141,essv5056247,essv5028750,essv5096363,essv5096383,essv5055910,essv5052271,essv5134856,essv5018665,essv5118586,essv5142931,essv5104044,essv5087796,essv5132816,essv5103246,essv5015773,essv5003436,essv5014235,essv5070253,essv5056786,essv5158949,essv5138504,essv5011937,essv5027538,essv5102478,essv5098902,essv5062060,essv5007570,essv5131644,essv5150782,essv5012882,essv5018226,essv5044097,essv5116293,essv5065125,essv5114005,essv5029228,essv5114708,essv5072804,essv5021999,essv5123305,essv5050684,essv5097458,essv5144898,essv5159464,essv5121226,essv5018777,essv5053218,essv5157495,essv5155996,essv5124092,essv5134231,essv5085457,essv5018039,essv5072619,essv5080560,essv5101079,essv5007148,essv5098740,essv5014576,essv5020677,essv5114056,essv5052382,essv5118199,essv5032987,essv5120693,essv5013518,essv5075102,essv5072660,essv5019438,essv5026206,essv5111359,essv5154049,essv5124523,essv5004108,essv5048611,essv5141911,essv5030587,essv5060119,essv5155232,essv5150551,essv5152817,essv5058927,essv5076526,essv5117896,essv5026810,essv5087662,essv5031233,essv5027464,essv5100626,essv5062116,essv5051141,essv5065546,essv5020032,essv5010633,essv5040047,essv5066902,essv5115198,essv5076378,essv5006248,essv5110280,essv5130235,essv5041225,essv5145274,essv5141331,essv5125467,essv5030057,essv5024773,essv5050478,essv5138389,essv5052883,essv5141907,essv5088023,essv5079172,essv5042064,essv5047960,essv5136552,essv5159605,essv5046566,essv5159290,essv5078020,essv5033785,essv5145513,essv5054118,essv5087896,essv5127349,essv5112489,essv5094972,essv5138181,essv5123172,essv5129566,essv5096138,essv5038633,essv5060065,essv5150244,essv5151263,essv5040837,essv5096610,essv5089720,essv5099066,essv5117625,essv5062703,essv5005757,essv5124996,essv5099426,essv5099408,essv5082184,essv5131330 M 1184 0 241 "" NA18484,NA18486,NA18488,NA18497,NA18498,NA18499,NA18503,NA18504,NA18508,NA18515,NA18516,NA18517,NA18518,NA18852,NA18854,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18871,NA18872,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18917,NA18923,NA18933,NA18934,NA18935,NA19031,NA19035,NA19038,NA19046,NA19093,NA19094,NA19095,NA19096,NA19097,NA19101,NA19102,NA19103,NA19114,NA19115,NA19116,NA19117,NA19119,NA19120,NA19122,NA19128,NA19131,NA19137,NA19138,NA19139,NA19141,NA19142,NA19143,NA19146,NA19148,NA19149,NA19151,NA19152,NA19154,NA19159,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19184,NA19186,NA19190,NA19193,NA19194,NA19200,NA19202,NA19203,NA19209,NA19211,NA19226,NA19236,NA19237,NA19238,NA19239,NA19240,NA19257,NA19258,NA19308,NA19311,NA19317,NA19324,NA19327,NA19328,NA19332,NA19371,NA19372,NA19373,NA19374,NA19375,NA19380,NA19382,NA19383,NA19385,NA19390,NA19394,NA19399,NA19403,NA19429,NA19434,NA19436,NA19438,NA19439,NA19440,NA19445,NA19446,NA19449,NA19451,NA19452,NA19457,NA19462,NA19466,NA19467,NA19469,NA19472,NA19474,NA19654,NA19656,NA19700,NA19702,NA19704,NA19705,NA19711,NA19712,NA19788,NA19818,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19909,NA19919,NA20126,NA20128,NA20276,NA20277,NA20281,NA20289,NA20290,NA20291,NA20294,NA20295,NA20297,NA20301,NA20317,NA20322,NA20332,NA20335,NA20341,NA20343,NA20346,NA20347,NA20350,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA21295,NA21307,NA21308,NA21309,NA21317,NA21336,NA21339,NA21352,NA21353,NA21357,NA21378,NA21379,NA21382,NA21383,NA21384,NA21385,NA21386,NA21388,NA21391,NA21399,NA21401,NA21402,NA21405,NA21414,NA21421,NA21436,NA21448,NA21453,NA21454,NA21455,NA21457,NA21473,NA21476,NA21477,NA21478,NA21480,NA21493,NA21509,NA21510,NA21520,NA21528,NA21574,NA21575,NA21576,NA21580,NA21582,NA21597,NA21614,NA21619,NA21648,NA21650,NA21678,NA21683,NA21686,NA21723,NA21739,NA21768,NA21776,NA21784,NA21825 nsv498716 1 246933810 246942717 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585432 S 9 0 1 "" nsv442640 1 246933867 246939281 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv32854 1 246933979 246940659 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94951 S 51 0 1 "" 22231 nsv514049 1 246936576 246940896 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628125 S 1414 0 1 "" esv26240 1 246961179 246961640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11747 S 451 0 1 "" NA18858 esv2259520 1 246974288 246974689 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859515 S 1 0 1 "" NA18507 esv23719 1 247056376 247057061 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11346 S 451 0 1 "" NA19240 esv1201119 1 247064265 247064265 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056644 S 2 1 0 "" HuRef esv2145823 1 247073136 247073573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877845 S 1 0 1 SH3BP5L NA18507 nsv5398 1 247084218 247117446 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5144 S 9 1 0 MIR3124,SH3BP5L,ZNF672,ZNF692 NA19129 esv21433 1 247111544 247117170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20727 S 451 0 1 ZNF692 NA19108 nsv5410 1 247149254 247173069 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv696 S 9 1 0 PGBD2 NA19240 nsv499174 1 247172155 247172246 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586175 S 9 1 0 PGBD2 esv1398356 1 247172590 247172590 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296400 S 2 1 0 PGBD2 HuRef dgv581n71 10 1 141997 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894692,nsv894691 M 6533 2 0 TUBB8 IS30771,SP52328 dgv209e1 10 50001 214405 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12270,esv267,essv9391 M 271 0 0 TUBB8,ZMYND11 NA18853,NA19101 esv24948 10 50073 125923 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11432 S 451 3 0 TUBB8 NA12006,NA18502,NA18916 nsv894693 10 59083 122330 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592668 S 6533 1 0 TUBB8 IS39243 nsv8592 10 83225 124295 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23282 S 31 1 0 Samples from several populations that are part of the HapMap project. TUBB8 NA19221 nsv894694 10 104779 220625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543978 S 6533 1 0 ZMYND11 MS16192 dgv117n67 10 106247 184477 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825202,nsv825203,nsv825204 M 31 3 0 ZMYND11 NA18968,NA18969,NA18973 esv33395 10 123411 133840 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97005,essv95242 M 51 1 1 "" 21817,21872 nsv442168 10 123551 133255 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv5476 10 142328 168978 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8336 S 9 1 0 "" NA12156 nsv8593 10 161290 164823 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18696 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 nsv8594 10 170341 173501 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18933,nssv18726,nssv16511,nssv18290,nssv19478,nssv19037,nssv18637,nssv16729,nssv18999,nssv18346,nssv16930,nssv17642,nssv18989 M 31 12 1 Samples from several populations that are part of the HapMap project. ZMYND11 NA07029,NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18552,NA18563,NA18572,NA18853,NA19173 dgv582n71 10 245222 377060 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894697,nsv894698,nsv894695,nsv894696 M 6533 4 0 DIP2C,ZMYND11 SP54577,SP56231,SP57728,SP81359 nsv466693 10 245222 556195 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542174 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DIP2C,ZMYND11 HGDP00811 nsv819561 10 288685 288938 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419481 S 2 0 1 ZMYND11 AK1 esv26902 10 300347 301221 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14077 S 451 1 0 "" NA12156 esv1571982 10 300537 300596 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095962 S 2 0 1 "" HuRef esv1362728 10 300823 300941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207285 S 2 0 1 "" HuRef dgv583n71 10 303304 477973 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894700,nsv894699 M 6533 0 2 DIP2C MS17208,MS18276 nsv519746 10 349403 363048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658119,nssv680300,nssv686857,nssv680904,nssv672781,nssv683531,nssv677936 M 2026 0 7 DIP2C nsv894701 10 349403 397584 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572894,nssv1590479 M 6533 2 0 DIP2C IS33192,IS38515 esv998813 10 356876 361516 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564499 S 3 1 0 DIP2C HuRef esv29290 10 357481 359597 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16931,esv12383 M 451 1 23 DIP2C NA07045,NA11931,NA12044,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1678258 10 358883 358883 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291830 S 2 1 0 DIP2C HuRef esv2594246 10 358904 358954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390887 S 1 0 1 DIP2C NA18507 esv1320039 10 359129 359425 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045222 S 2 0 1 DIP2C HuRef esv1024446 10 373222 373222 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611228 S 2 1 0 DIP2C HuRef esv7892 10 373353 373647 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30333 S 1 0 1 DIP2C SJK esv28717 10 381342 383842 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17514 S 451 1 0 DIP2C NA06985 esv1103672 10 381974 382065 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749048 S 2 0 1 DIP2C HuRef esv1514144 10 382936 382936 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242943 S 2 1 0 DIP2C HuRef esv1755649 10 383382 383564 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845726 S 2 0 1 DIP2C HuRef esv1558074 10 383629 383725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236810 S 2 0 1 DIP2C HuRef dgv584n71 10 383676 483787 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894703,nsv894702 M 6533 2 0 DIP2C SP57728,SP81359 dgv585n71 10 383676 555362 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894705,nsv894704 M 6533 2 0 DIP2C SP54577,SP56231 esv990983 10 403844 404133 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571588 S 3 0 1 DIP2C HuRef esv1403517 10 403889 404179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926533 S 2 0 1 DIP2C HuRef esv9223 10 403897 404212 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31664 S 1 0 1 DIP2C SJK dgv11n6 10 403945 404234 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv24885,nsv24306 M 24 DIP2C esv2638964 10 414446 414533 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246700 S 1 0 1 DIP2C NA18507 esv1344682 10 430435 430435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885761 S 2 1 0 DIP2C HuRef esv997336 10 430494 430711 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580402 S 3 0 1 DIP2C HuRef esv25478 10 435363 440118 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10652 S 451 5 2 DIP2C NA12489,NA18508,NA18511,NA18523,NA19129,NA19147,NA19225 esv2016393 10 437857 439750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503801 S 1 0 1 DIP2C NA18507 nsv512134 10 437864 440406 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624694 S 1 0 1 DIP2C 1 esv2500904 10 453092 454611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202320 S 1 0 1 DIP2C NA18507 esv2037768 10 453442 453988 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613778 S 1 0 1 DIP2C NA18507 esv29656 10 453557 454247 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13591 S 451 9 0 DIP2C NA11894,NA11995,NA12239,NA12287,NA12414,NA12776,NA12828,NA18907,NA19129 nsv820645 10 453557 454247 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420838 S 1 0 1 DIP2C NA10851 esv2341391 10 453583 454285 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536335 S 1 0 1 DIP2C NA18507 esv3416 10 453629 454383 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25857 S 1 0 1 Single Asian sample YH DIP2C YH nsv831765 10 456002 621099 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448160,nssv1448157,nssv1448167,nssv1448159,nssv1448158,nssv1448164,nssv1448163,nssv1448166,nssv1448165,nssv1448169,nssv1448162,nssv1448168,nssv1448156 M 95 0 13 DIP2C nsv25193 10 472622 472681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43771 M 24 DIP2C nsv524243 10 477973 481349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700133 S 2026 0 1 DIP2C esv28009 10 479896 485269 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18387,esv12132 M 451 0 8 DIP2C NA12828,NA18505,NA18858,NA18916,NA19108,NA19114,NA19190,NA19240 esv2242829 10 480026 480531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497511 S 1 0 1 DIP2C NA18507 esv4124 10 480033 480493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26565 S 1 0 1 Single Asian sample YH DIP2C YH esv2572990 10 483054 485198 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358919 S 1 0 1 DIP2C NA18507 esv2328251 10 490327 490769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897788 S 1 0 1 DIP2C NA18507 esv22803 10 491198 492333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17521 S 451 0 2 DIP2C NA11894,NA12828 esv1139005 10 491549 491549 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742456 S 2 1 0 DIP2C HuRef esv1664973 10 491695 491695 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992182 S 2 1 0 DIP2C HuRef nsv894706 10 508199 573548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589314 S 6533 0 1 DIP2C IS38336 nsv5487 10 541380 544336 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3855 S 9 1 0 DIP2C NA12878 nsv509339 10 542101 560992 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619287 S 4 1 0 DIP2C NA10860 nsv894707 10 542355 742193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546723 S 6533 0 1 C10orf108,DIP2C MS17208 nsv894708 10 551952 621041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537109 S 6533 0 1 DIP2C MS13095 esv270260 10 553741 554083 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519057 S 157 1 0 Samples from several populations that are part of the HapMap project. DIP2C NA19141 nsv819504 10 554975 556064 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419168 S 2 1 0 DIP2C AK1 esv1547088 10 559286 559286 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315673 S 2 1 0 DIP2C HuRef esv1439616 10 559464 559464 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741497 S 2 1 0 DIP2C HuRef nsv894709 10 560172 668605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566838 S 6533 1 0 DIP2C IS30934 nsv528733 10 567444 828378 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705389 S 2026 1 0 C10orf108,DIP2C nsv25268 10 568662 568733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43846 M 24 DIP2C dgv586n71 10 578126 629750 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894711,nsv894710 M 6533 0 2 DIP2C MS13770,MS14639 nsv894712 10 585504 621041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511895 S 6533 1 0 DIP2C SP55160 nsv466695 10 585504 632943 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542176 S 1557 1 0 DIP2C NINDS_6 esv2467819 10 591663 592490 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162775 S 1 1 0 DIP2C NA18507 esv1450884 10 592254 592254 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902982 S 2 1 0 DIP2C HuRef nsv527312 10 608685 631961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703736 S 2026 0 1 DIP2C nsv520943 10 613410 616412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697700 S 2026 0 1 DIP2C nsv894713 10 616782 677569 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515639 S 6533 1 0 DIP2C SP56231 nsv894714 10 616782 724229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543569,nssv1530669 M 6533 0 2 C10orf108,DIP2C MS10311,MS16153 nsv466696 10 622748 670428 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542177 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DIP2C HGDP00811 nsv818740 10 629750 632943 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417697 S 112 1 0 DIP2C NA18999 esv1111279 10 642546 642546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595000 S 2 1 0 DIP2C HuRef esv2650676 10 644029 644807 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242097 S 1 1 0 DIP2C NA18507 esv1922448 10 659411 659831 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886962 S 1 0 1 DIP2C NA18507 dgv118n67 10 667475 808192 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825206,nsv825205 M 31 2 0 C10orf108,DIP2C NA18969,NA18973 esv1191119 10 675111 675111 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611463 S 2 1 0 DIP2C HuRef esv1374087 10 684300 684705 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059317 S 2 0 1 DIP2C HuRef esv2537541 10 691711 692729 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234510 S 1 1 0 C10orf108,DIP2C NA18507 esv21741 10 692973 694403 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19478 S 451 2 0 C10orf108,DIP2C NA18523,NA18861 esv1255045 10 693099 693711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264705 S 2 0 1 C10orf108,DIP2C HuRef nsv24219 10 694097 694348 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42797 M 24 C10orf108,DIP2C nsv511462 10 709803 724229 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626076 S 1 0 1 DIP2C 1 esv2276553 10 714465 714819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769535 S 1 0 1 DIP2C NA18507 esv26085 10 714635 715865 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10975 S 451 1 0 DIP2C NA18861 esv1366852 10 715231 715415 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798978 S 2 0 1 DIP2C HuRef esv24994 10 725338 726029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9991 S 451 0 1 DIP2C NA07045 esv3136 10 732543 732900 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25577 S 1 0 1 Single Asian sample YH "" YH esv1005653 10 733615 733672 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581009 S 3 0 1 "" HuRef nsv894715 10 744033 805149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537110 S 6533 0 1 "" MS13095 esv2626436 10 753126 754620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186168 S 1 0 1 "" NA18507 esv1007169 10 753692 754352 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586697 S 3 1 0 "" HuRef esv27293 10 753692 754352 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10886 S 451 7 0 "" NA07037,NA11894,NA11931,NA11993,NA12044,NA12239,NA12776 nsv820922 10 753692 754352 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420839 S 1 0 1 "" NA10851 nsv894716 10 753714 790213 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543570 S 6533 0 1 "" MS16153 dgv587n71 10 753714 851390 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894718,nsv894717 M 6533 0 3 LARP4B IS32322,MS10311,MS17208 esv1457066 10 753998 754208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343869 S 2 0 1 "" HuRef dgv588n71 10 757395 805149 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894720,nsv894719,nsv894721 M 6533 0 5 "" IS31558,IS33248,IS33684,IS33797,MS13727 esv24340 10 758189 760183 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14528,esv21000 M 451 25 0 "" NA07037,NA11894,NA11931,NA11993,NA12044,NA12156,NA12414,NA12776,NA12878,NA18502,NA18508,NA18511,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1764108 10 759199 759199 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292043 S 2 1 0 "" HuRef esv1422238 10 759504 759582 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863959 S 2 0 1 "" HuRef esv1267506 10 759706 759862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935458 S 2 0 1 "" HuRef esv2218263 10 764831 765270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744897 S 1 0 1 "" NA18507 esv1007335 10 770286 774535 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565061 S 3 0 1 "" HuRef nsv821353 10 771375 774300 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420840 S 1 0 1 "" NA10851 esv23689 10 771375 774764 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11700 S 451 38 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1129028 10 771757 771969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026334 S 2 0 1 "" HuRef esv1402338 10 772026 774362 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004963 S 2 0 1 "" HuRef dgv34n21 10 777896 792272 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525722,nsv521935 M 2026 2 0 "" esv33616 10 789859 790003 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98573,essv96370 M 51 0 2 "" 22085,22371 esv1631838 10 793296 793499 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188129 S 2 0 1 "" HuRef esv32889 10 808451 824608 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99875 S 51 1 0 "" 22086 esv1472850 10 813543 813739 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095118 S 2 0 1 "" HuRef esv2132531 10 814190 814587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699611 S 1 0 1 "" NA18507 esv26886 10 814287 816877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14112 S 451 0 2 "" NA11894,NA12776 esv1007697 10 814301 814448 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585377 S 3 0 1 "" HuRef esv1646489 10 819773 820444 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038780 S 2 0 1 "" HuRef nsv466698 10 826115 878073 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542178 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LARP4B HGDP00696 esv28646 10 829593 830268 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20284 S 451 0 4 "" NA12004,NA12749,NA12878,NA19114 nsv821541 10 829593 830268 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420841 S 1 0 1 "" NA10851 esv1515761 10 829872 830176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954408 S 2 0 1 "" HuRef nsv5498 10 839137 850462 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8342 S 9 0 1 LARP4B NA12156 nsv510208 10 843917 849917 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621214,nssv618322 M 4 0 2 LARP4B CHM,NA15510 nsv820121 10 848606 848907 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419858 S 2 1 0 LARP4B AK1 nsv819263 10 878068 879094 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419156 S 2 0 1 LARP4B AK1 nsv5509 10 923197 928934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8349 S 9 1 0 "" NA12156 esv2638233 10 936775 937072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174743 S 1 0 1 "" NA18507 dgv119n67 10 947020 995451 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825207,nsv825208 M 31 2 0 "" NA18969,NA18973 nsv5521 10 976842 1021352 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1835 S 9 0 1 "" NA18555 nsv523365 10 981737 984753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699114 S 2026 0 1 "" nsv512135 10 987493 989461 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624695 S 1 0 1 "" 1 esv24858 10 987546 990640 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20739 S 451 18 0 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12044,NA12287,NA12776,NA15510,NA18505,NA18858,NA18907,NA18916,NA19108,NA19114,NA19147,NA19225,NA19257 nsv511433 10 987560 990973 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626045 S 1 0 1 "" 1 esv21662 10 990685 991180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19963 S 451 0 1 "" NA18907 esv1147861 10 995505 995557 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932338 S 2 0 1 "" HuRef nsv525014 10 1003535 1014214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701051 S 2026 0 1 "" nsv25261 10 1011935 1012098 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43839 M 24 "" esv2551854 10 1045467 1046465 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326227 S 1 1 0 GTPBP4 NA18507 esv24871 10 1045951 1047375 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11427 S 451 1 0 GTPBP4 NA19114 esv1067888 10 1045977 1046055 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138695 S 2 0 1 GTPBP4 HuRef esv1468754 10 1047398 1047398 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739651 S 2 1 0 GTPBP4 HuRef dgv589n71 10 1048837 1264538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894722,nsv894723 M 6533 0 2 ADARB2,GTPBP4,IDI1,IDI2,IDI2-AS1,LINC00200,WDR37 IS32322,MS17208 esv1989555 10 1051128 1051623 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983104 S 1 0 1 GTPBP4 NA18507 nsv5532 10 1069499 1091700 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8358 S 9 0 1 IDI1,IDI2-AS1 NA12156 esv1721755 10 1074763 1074952 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314270 S 2 0 1 IDI2-AS1 HuRef esv1000079 10 1074772 1074960 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570329 S 3 0 1 IDI2-AS1 HuRef nsv894724 10 1074942 1106294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585913 S 6533 0 1 IDI1,IDI2-AS1,WDR37 IS37646 esv2156728 10 1078662 1079089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617017 S 1 0 1 IDI1,IDI2-AS1 NA18507 esv2483699 10 1082125 1083982 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194311 S 1 0 1 IDI1 NA18507 nsv512136 10 1082349 1085373 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624696 S 1 0 1 IDI1 1 esv990965 10 1082581 1083980 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565565 S 3 0 1 IDI1 HuRef nsv894725 10 1100464 1411516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594114 S 6533 1 0 ADARB2,LINC00200,WDR37 IS39714 nsv521885 10 1106671 1107514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694107 S 2026 0 1 WDR37 dgv590n71 10 1141620 1214336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894727,nsv894726 M 6533 0 2 ADARB2,LINC00200,WDR37 MS10311,MS13095 esv2573324 10 1153453 1154910 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358331 S 1 0 1 WDR37 NA18507 esv1009406 10 1154029 1154200 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572728 S 3 0 1 WDR37 HuRef esv1356116 10 1154141 1154313 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672271 S 2 0 1 WDR37 HuRef dgv591n71 10 1178270 1264538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894729,nsv894728 M 6533 0 2 ADARB2,LINC00200 IS33684,MS18276 nsv517780 10 1192448 1220968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682313,nssv684790,nssv688650,nssv653233,nssv664815,nssv676229,nssv696134 M 2026 0 7 ADARB2,LINC00200 esv1007272 10 1195626 1195626 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578771 S 3 1 0 "" HuRef esv1247301 10 1195783 1195783 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044199 S 2 1 0 LINC00200 HuRef nsv527883 10 1208030 1304548 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704385 S 2026 1 0 ADARB2 nsv894730 10 1209153 1249485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573855,nssv1543571 M 6533 0 2 ADARB2 IS33504,MS16153 nsv894731 10 1216783 1269272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585914 S 6533 0 1 ADARB2 IS37646 nsv894732 10 1220968 1482512 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587722 S 6533 1 0 ADARB2 IS38103 nsv509340 10 1222871 1289901 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619608,nssv620972 M 4 2 0 ADARB2 NA10860,NA15510 nsv25073 10 1241273 1241344 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43651 M 24 ADARB2 esv2505047 10 1245340 1245507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188209 S 1 0 1 ADARB2 NA18507 esv988420 10 1248629 1248629 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585677 S 3 1 0 ADARB2 HuRef esv1424351 10 1248722 1248722 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118497 S 2 1 0 ADARB2 HuRef esv1227692 10 1265643 1265643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149316 S 2 1 0 ADARB2 HuRef nsv5543 10 1266965 1302291 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3856 S 9 1 0 ADARB2 NA12878 esv28216 10 1271299 1272456 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14020 S 451 6 12 ADARB2 NA07045,NA11931,NA11995,NA12156,NA12287,NA12489,NA12776,NA12878,NA18502,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19108,NA19129 esv1541589 10 1271413 1271581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870213 S 2 0 1 ADARB2 HuRef esv1388155 10 1271639 1271822 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042910 S 2 0 1 ADARB2 HuRef esv1596673 10 1272241 1272313 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696491 S 2 0 1 ADARB2 HuRef esv269952 10 1282063 1282403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565663,essv2546312,essv2521330,essv2542248,essv2536662,essv2544071,essv2545507,essv2531729,essv2577321,essv2570662,essv2548420,essv2521530,essv2576519,essv2535094,essv2544285,essv2547535,essv2529217,essv2558279,essv2564480,essv2554958,essv2544783,essv2523651,essv2540608,essv2534783,essv2561093,essv2519769,essv2560068,essv2522127,essv2566147,essv2532714,essv2567474,essv2563806,essv2535622,essv2559009,essv2578270,essv2573184,essv2555369,essv2533640,essv2555595,essv2566383,essv2573813,essv2527576,essv2557693,essv2555946,essv2534221,essv2522470,essv2531492,essv2573405,essv2543172,essv2573313,essv2577139,essv2526872,essv2548871,essv2554703 M 157 54 0 Samples from several populations that are part of the HapMap project. ADARB2 NA07037,NA07346,NA11829,NA11881,NA11894,NA11919,NA11920,NA11992,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12249,NA12414,NA12717,NA12749,NA12750,NA12751,NA12872,NA18526,NA18537,NA18552,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18576,NA18582,NA18603,NA18608,NA18638,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA19005 esv2290022 10 1297424 1297920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705522 S 1 0 1 ADARB2 NA18507 nsv894733 10 1304548 1333726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528393 S 6533 0 1 ADARB2 SP81213 nsv894734 10 1315411 1341088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546726 S 6533 0 1 ADARB2 MS17208 esv6414 10 1328507 1328570 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28855 S 1 1 0 ADARB2 SJK esv28240 10 1332801 1333614 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11751 S 451 3 0 ADARB2 NA11995,NA12044,NA18861 nsv519127 10 1341088 1356888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696605 S 2026 0 1 ADARB2 dgv120n67 10 1353185 1428593 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825210,nsv825211 M 31 2 0 ADARB2 NA18969,NA18973 nsv527999 10 1357514 1454892 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704524 S 2026 1 0 ADARB2 esv22298 10 1358859 1359904 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15114 S 451 0 3 ADARB2 NA11995,NA12004,NA12828 esv1523107 10 1359038 1359146 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776425 S 2 0 1 ADARB2 HuRef esv1613053 10 1359291 1359612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742970 S 2 0 1 ADARB2 HuRef esv1589394 10 1359625 1359715 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058557 S 2 0 1 ADARB2 HuRef esv1032656 10 1359860 1359860 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751506 S 2 1 0 ADARB2 HuRef esv1537660 10 1359960 1359960 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337086 S 2 1 0 ADARB2 HuRef esv1309284 10 1360007 1360007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889150 S 2 1 0 ADARB2 HuRef esv1258640 10 1360030 1360030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588808 S 2 1 0 ADARB2 HuRef esv1647895 10 1360096 1360096 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089238 S 2 1 0 ADARB2 HuRef nsv894735 10 1386155 1449379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543572 S 6533 0 1 ADARB2 MS16153 esv21703 10 1400813 1401921 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19781 S 451 3 0 ADARB2 NA18523,NA19099,NA19108 esv1352224 10 1401057 1401107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646964 S 2 0 1 ADARB2 HuRef esv1008495 10 1401066 1401066 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578624 S 3 1 0 ADARB2 HuRef esv1159013 10 1401124 1401124 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212844 S 2 1 0 ADARB2 HuRef esv991635 10 1406014 1406014 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583911 S 3 1 0 ADARB2 HuRef esv1105125 10 1406015 1406015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651866 S 2 1 0 ADARB2 HuRef esv8410 10 1407985 1408199 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30851 S 1 0 1 ADARB2 SJK esv1082929 10 1429013 1429095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330089 S 2 0 1 ADARB2 HuRef dgv210e1 10 1432709 1453158 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25104,esv1102 M 271 0 0 ADARB2 NA12814 nsv825212 10 1437722 1438334 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441257 S 31 1 0 ADARB2 NA18969 nsv512137 10 1441411 1443248 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624697 S 1 0 1 ADARB2 1 esv3152 10 1441775 1442515 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25593 S 1 0 1 Single Asian sample YH ADARB2 YH esv1009491 10 1441832 1442276 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574669 S 3 0 1 ADARB2 HuRef esv1543111 10 1441853 1442298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192655 S 2 0 1 ADARB2 HuRef esv1921685 10 1442012 1442346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785314 S 1 0 1 ADARB2 NA18507 nsv25304 10 1442210 1442293 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43882 M 24 ADARB2 esv22010 10 1470300 1472425 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20532 S 451 0 2 ADARB2 NA12489,NA18511 esv998745 10 1471028 1471163 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570713 S 3 0 1 ADARB2 HuRef esv24883 10 1491289 1493104 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15663 S 451 0 9 ADARB2 NA07037,NA11894,NA11931,NA12006,NA12878,NA18523,NA18916,NA19190,NA19240 esv2649249 10 1491700 1493411 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382158 S 1 0 1 ADARB2 NA18507 esv2247605 10 1491954 1492482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843777 S 1 0 1 ADARB2 NA18507 esv22628 10 1496312 1497047 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9736 S 451 2 0 ADARB2 NA12239,NA19129 esv1493086 10 1496656 1496788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903121 S 2 0 1 ADARB2 HuRef esv1372493 10 1496837 1496903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342203 S 2 0 1 ADARB2 HuRef nsv894736 10 1503349 1662408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587723 S 6533 1 0 ADARB2,ADARB2-AS1 IS38103 esv1004371 10 1506135 1506135 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569263 S 3 1 0 ADARB2 HuRef esv1327835 10 1506140 1506140 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671651 S 2 1 0 ADARB2 HuRef nsv24658 10 1521528 1521589 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43236 M 24 ADARB2 esv5029 10 1527755 1528122 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27470 S 1 0 1 Single Asian sample YH ADARB2 YH esv2474802 10 1531205 1531391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355250 S 1 0 1 ADARB2 NA18507 nsv819780 10 1543740 1545458 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419311 S 2 0 1 ADARB2 AK1 nsv894737 10 1550338 1682796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521925 S 6533 0 1 ADARB2,ADARB2-AS1 SP52634 esv23632 10 1572580 1575280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12070 S 451 0 8 ADARB2,ADARB2-AS1 NA11931,NA12287,NA12414,NA12749,NA12776,NA15510,NA18517,NA19099 nsv821076 10 1572580 1575280 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420842 S 1 0 1 ADARB2,ADARB2-AS1 NA10851 nsv512138 10 1572636 1574318 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624698 S 1 0 1 ADARB2,ADARB2-AS1 1 nsv24360 10 1572650 1574765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42938 M 24 ADARB2,ADARB2-AS1 esv1522620 10 1572723 1572806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302742 S 2 0 1 ADARB2,ADARB2-AS1 HuRef esv1416852 10 1573629 1574406 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697793 S 2 0 1 ADARB2,ADARB2-AS1 HuRef esv1588804 10 1574460 1574509 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692297 S 2 0 1 ADARB2,ADARB2-AS1 HuRef esv1761080 10 1574724 1574773 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323606 S 2 0 1 ADARB2,ADARB2-AS1 HuRef esv1608725 10 1574856 1574905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305445 S 2 0 1 ADARB2,ADARB2-AS1 HuRef esv991990 10 1579767 1579839 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578722 S 3 0 1 ADARB2,ADARB2-AS1 HuRef esv1269144 10 1579803 1579876 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313439 S 2 0 1 ADARB2,ADARB2-AS1 HuRef esv27475 10 1590267 1591352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11218 S 451 0 3 ADARB2 NA11931,NA18861,NA18916 esv1437533 10 1590810 1590810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242319 S 2 1 0 ADARB2 HuRef esv2128674 10 1592459 1592948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586396 S 1 0 1 ADARB2 NA18507 esv3846 10 1592612 1592834 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26287 S 1 0 1 Single Asian sample YH ADARB2 YH nsv894738 10 1603026 1781836 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530672 S 6533 0 1 ADARB2 MS10311 nsv24116 10 1609434 1609434 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42694 M 24 ADARB2 nsv825213 10 1620968 1628897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436016,nssv1424383 M 31 0 2 ADARB2 NA18566,NA18582 nsv5554 10 1623398 1656112 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6259 S 9 1 0 ADARB2 NA12156 esv28361 10 1623931 1626079 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10658,esv12463 M 451 1 3 ADARB2 NA18907,NA19129,NA19190,NA19225 esv2505756 10 1624032 1625875 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235230 S 1 0 1 ADARB2 NA18507 esv2859 10 1624459 1624968 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25300 S 1 0 1 Single Asian sample YH ADARB2 YH esv5670 10 1624494 1624893 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28111 S 1 0 1 ADARB2 SJK esv1567608 10 1624518 1624518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092313 S 2 1 0 ADARB2 HuRef esv1278410 10 1624575 1624575 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220309 S 2 1 0 ADARB2 HuRef esv1398797 10 1624931 1624994 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019997 S 2 0 1 ADARB2 HuRef esv1595476 10 1625230 1625356 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093615 S 2 0 1 ADARB2 HuRef dgv592n71 10 1633368 1665548 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894740,nsv894739 M 6533 2 0 ADARB2 MS20359,MS24951 esv25433 10 1647661 1650888 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12699,esv19528 M 451 10 0 ADARB2 NA07037,NA18502,NA18517,NA18909,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 nsv821498 10 1648596 1650016 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420843 S 1 1 0 ADARB2 NA10851 esv23314 10 1658101 1658606 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11707 S 451 2 0 ADARB2 NA11993,NA12776 nsv894741 10 1659880 1726049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546727 S 6533 0 1 ADARB2 MS17208 esv1637733 10 1665794 1665794 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620355 S 2 1 0 ADARB2 HuRef nsv433508 10 1677171 1683445 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463389 S 9 0 1 Samples from several populations that are part of the HapMap project. ADARB2 NA18956 esv3423 10 1691913 1692349 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25864 S 1 0 1 Single Asian sample YH ADARB2 YH nsv894742 10 1696725 1745177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521926 S 6533 0 1 ADARB2 SP52634 nsv894743 10 1704379 1806298 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587724 S 6533 1 0 ADARB2 IS38103 esv1231222 10 1704868 1704868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797809 S 2 1 0 ADARB2 HuRef esv1670054 10 1707241 1707241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077679 S 2 1 0 ADARB2 HuRef esv998686 10 1727245 1736126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564335 S 3 0 1 ADARB2 HuRef nsv821012 10 1731322 1734280 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420844 S 1 0 1 ADARB2 NA10851 esv25831 10 1731370 1734179 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9815 S 451 13 0 ADARB2 NA06985,NA11995,NA12287,NA12489,NA12776,NA18508,NA18511,NA18861,NA18909,NA18916,NA19129,NA19225,NA19257 nsv25176 10 1731677 1731844 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43754 M 24 ADARB2 esv1593452 10 1732901 1733321 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634384 S 2 0 1 ADARB2 HuRef esv1631254 10 1733377 1733799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269737 S 2 0 1 ADARB2 HuRef nsv528115 10 1746440 1764564 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704658 S 2026 1 0 ADARB2 esv2635359 10 1781846 1783292 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164058 S 1 0 1 "" NA18507 esv2285730 10 1782220 1782863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769615 S 1 0 1 "" NA18507 esv5320 10 1782337 1782970 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27761 S 1 0 1 Single Asian sample YH "" YH esv2466227 10 1782397 1782670 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287675 S 1 0 1 "" NA18507 esv1999400 10 1832456 1832847 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571963 S 1 0 1 "" NA18507 esv1164523 10 1832483 1832565 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751328 S 2 0 1 "" HuRef dgv18e55 10 1842791 1913396 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34498,esv34804 M 771 2 0 "" NA18952,NA18974 dgv211e1 10 1842791 1913557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2558,essv519,esv1134 M 271 0 0 "" NA18952,NA18974 nsv442169 10 1853064 1909687 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818741 10 1860359 1904417 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417428 S 112 1 0 "" NA18952 essv12096 10 1888756 1898328 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19099 essv14808 10 1888782 1907354 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18870 nsv894744 10 1889620 1914785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591594 S 6533 0 1 "" IS38995 esv992378 10 1900049 1900049 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584776 S 3 1 0 "" HuRef nsv521102 10 1924068 1974760 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697788 S 2026 1 0 "" nsv894745 10 1953407 1976322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514770 S 6533 0 1 "" SP56072 nsv521999 10 1962657 1965035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694768 S 2026 0 1 "" nsv894746 10 1962657 2139120 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521929 S 6533 1 0 LOC282980 SP52634 nsv5565 10 1998880 2027332 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10625 S 9 1 0 "" NA18956 esv2585555 10 2003190 2004517 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162380 S 1 0 1 "" NA18507 esv2337387 10 2003622 2004041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584734 S 1 0 1 "" NA18507 esv1002589 10 2003773 2003894 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566825 S 3 0 1 "" HuRef nsv831766 10 2020000 2189560 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448170 S 95 1 0 LOC282980 esv21786 10 2054190 2082498 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14096,esv14648 M 451 4 0 "" NA12239,NA12828,NA18861,NA19257 esv990125 10 2056869 2057406 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586242 S 3 1 0 "" HuRef esv993855 10 2062569 2068725 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587279 S 3 1 0 "" HuRef esv273088 10 2067519 2067850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582173,essv2582419,essv2582834,essv2584260,essv2584489,essv2583370 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv271196 10 2067525 2067856 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541080,essv2546228,essv2521377,essv2526196,essv2536417,essv2522834,essv2544144,essv2570962,essv2556546,essv2568309,essv2545433,essv2523390,essv2531952,essv2570497,essv2576888,essv2525382,essv2550437,essv2535198,essv2554005,essv2544557,essv2520356,essv2547194,essv2529363,essv2564354,essv2577894,essv2559719,essv2565243,essv2576215,essv2520143,essv2530606,essv2562014,essv2537434,essv2528639,essv2547055,essv2520755,essv2552563,essv2578819,essv2536807,essv2561412,essv2544937,essv2563076,essv2523566,essv2541289,essv2538229,essv2542920,essv2540403,essv2524682,essv2565042,essv2534716,essv2539845,essv2549329,essv2519717,essv2522036,essv2531271,essv2532484,essv2567987,essv2529056,essv2567375,essv2541564,essv2569894,essv2563567,essv2535726,essv2559092,essv2543458,essv2527904,essv2562537,essv2539383,essv2533821,essv2533795,essv2555659,essv2566655,essv2529916,essv2527547,essv2557645,essv2555851,essv2534471,essv2522330,essv2577079,essv2529518,essv2526448,essv2560585,essv2574822,essv2568724,essv2549947,essv2571209,essv2545909,essv2574263,essv2536190,essv2538107,essv2548910,essv2533405,essv2554531,essv2525012,essv2563118,essv2557844 M 157 95 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12751,NA12761,NA12776,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18502,NA18510,NA18517,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18638,NA18870,NA18907,NA18909,NA18912,NA18916,NA18944,NA18945,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18970,NA19093,NA19114,NA19116,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240 esv3306 10 2080877 2081202 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25747 S 1 0 1 Single Asian sample YH "" YH esv275422 10 2081021 2085054 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586014 S 1250 0 1 "" nsv819947 10 2137250 2143239 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419750 S 2 0 1 "" AK1 nsv5576 10 2143855 2178421 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2819 S 9 1 0 "" NA18555 nsv524643 10 2202037 2209930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700609 S 2026 0 1 "" nsv894747 10 2210201 2328198 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587725 S 6533 1 0 "" IS38103 esv273760 10 2230976 2231275 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582115,essv2582591,essv2582978 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv268387 10 2230985 2231240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565602,essv2576015,essv2540929,essv2542602,essv2522920,essv2545562,essv2570537,essv2576748,essv2535373,essv2554021,essv2577899,essv2562034,essv2537498,essv2528342,essv2547023,essv2544936,essv2523899,essv2552847,essv2540253,essv2534764,essv2539629,essv2549470,essv2560080,essv2565931,essv2531033,essv2532529,essv2567778,essv2567533,essv2570141,essv2553442,essv2572229,essv2559122,essv2528156,essv2578416,essv2567073,essv2529843,essv2527585,essv2556006,essv2522482,essv2531472,essv2545145,essv2538069,essv2548864,essv2554538 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA11829,NA11830,NA11831,NA11919,NA11931,NA12003,NA12044,NA12154,NA12249,NA12287,NA12761,NA12874,NA12878,NA12891,NA12892,NA18526,NA18537,NA18542,NA18552,NA18561,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18605,NA18609,NA18638,NA18907,NA18940,NA18947,NA18949,NA18952,NA18956,NA18960,NA18961,NA19172 esv1218731 10 2264558 2264614 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652096 S 2 0 1 "" HuRef nsv831767 10 2265141 2425006 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448171 S 95 1 0 LOC399708 nsv831768 10 2310204 2531855 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448174,nssv1448173 M 95 2 0 LOC399708 esv275503 10 2321993 2330038 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586165,essv2586120 M 1250 1 1 "" esv992906 10 2323072 2323347 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579885 S 3 0 1 "" HuRef nsv825214 10 2347122 2347574 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437610 S 31 1 0 LOC399708 NA18949 esv1478303 10 2347342 2347342 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948149 S 2 1 0 "" HuRef esv2408587 10 2349520 2349949 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001351 S 1 0 1 "" NA18507 nsv894748 10 2358260 2606253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587726 S 6533 1 0 "" IS38103 esv2494507 10 2368765 2370390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305612 S 1 0 1 "" NA18507 esv1983085 10 2369279 2369997 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591940 S 1 0 1 "" NA18507 esv4905 10 2369390 2369861 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27346 S 1 0 1 Single Asian sample YH "" YH esv987891 10 2369470 2369796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569181 S 3 0 1 "" HuRef esv1699688 10 2369486 2369813 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112981 S 2 0 1 "" HuRef esv268314 10 2378030 2378386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557950,essv2540845,essv2546600,essv2521061,essv2526250,essv2548477,essv2535234,essv2562551,essv2562976,essv2523522,essv2552873,essv2541383,essv2542729,essv2540442,essv2524713,essv2565115,essv2539588,essv2549225,essv2519720,essv2559965,essv2531260,essv2532548,essv2567379,essv2570267,essv2563751,essv2553189,essv2572367,essv2556279,essv2527943,essv2578197,essv2573115,essv2533489,essv2566563,essv2529883,essv2573790,essv2555893,essv2543083,essv2577171,essv2572027,essv2549706,essv2571145,essv2545895,essv2574460,essv2533367 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11831,NA11881,NA11894,NA11918,NA12045,NA12249,NA18507,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18573,NA18576,NA18582,NA18593,NA18603,NA18605,NA18609,NA18871,NA18907,NA18940,NA18942,NA18944,NA18948,NA18949,NA18951,NA18956,NA18965,NA18970,NA18973,NA19225,NA19238,NA19239,NA19240 esv272950 10 2378031 2378387 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584360,essv2584606,essv2583883 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv509341 10 2423082 2427121 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620992 S 4 1 0 "" NA15510 esv2531822 10 2424167 2425239 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196264 S 1 1 0 "" NA18507 nsv894749 10 2430211 2483744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545302 S 6533 1 0 "" MS16708 esv275498 10 2487637 2489126 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585450 S 1250 0 1 "" esv2180732 10 2509573 2510025 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823708 S 1 0 1 "" NA18507 esv1007199 10 2509722 2509788 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582274 S 3 0 1 "" HuRef esv1254576 10 2509788 2509855 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624990 S 2 0 1 "" HuRef nsv5587 10 2520867 2565542 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8373 S 9 0 1 "" NA12156 esv25018 10 2533312 2534056 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12073 S 451 0 6 "" NA07037,NA11894,NA12239,NA12414,NA12828,NA12878 nsv25410 10 2533494 2533619 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43988 M 24 "" esv1001765 10 2533560 2533685 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583693 S 3 0 1 "" HuRef esv1256173 10 2533567 2533756 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040758 S 2 0 1 "" HuRef esv1261776 10 2533903 2533903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064335 S 2 1 0 "" HuRef esv1653522 10 2534069 2534069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984276 S 2 1 0 "" HuRef nsv894750 10 2549338 2572995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555144 S 6533 0 1 "" MS21201 esv27117 10 2552864 2556440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21147 S 451 0 2 "" NA12006,NA12414 esv1142745 10 2554694 2554812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326817 S 2 0 1 "" HuRef esv1554685 10 2558424 2558424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965136 S 2 1 0 "" HuRef esv1231033 10 2558748 2558748 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754258 S 2 1 0 "" HuRef nsv894751 10 2572995 3157463 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534290 S 6533 1 0 PFKP MS11522 nsv527674 10 2573581 2583077 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704149 S 2026 1 0 "" nsv519975 10 2596931 2610997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697158 S 2026 0 1 "" esv26762 10 2612300 2613852 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13727 S 451 0 1 "" NA19114 nsv516135 10 2613568 2617161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689657,nssv673017,nssv666429,nssv655547,nssv656385 M 2026 0 5 "" dgv212e1 10 2650802 3188773 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv603,essv13268,essv14452,esv523 M 271 0 0 LOC100507034,PFKP,PITRM1 NA19201 nsv428229 10 2650802 3188773 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451791,nssv451792 M 62 2 0 LOC100507034,PFKP,PITRM1 HGDP00460,NA19147 nsv894752 10 2654712 2751708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587727 S 6533 1 0 "" IS38103 nsv517630 10 2664678 3129701 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697914,nssv702153,nssv687253,nssv652592,nssv670928,nssv681418,nssv685475,nssv687391,nssv679577,nssv662458,nssv705918,nssv656112,nssv661593,nssv682637,nssv667044,nssv671462,nssv667337 M 2026 11 6 PFKP esv34832 10 2671064 3123648 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985997,essv6980473,essv6980474,essv6990486,essv6985998 M 771 1 0 PFKP NA19201 dgv63n27 10 2676476 3123648 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466703,nsv466701,nsv466704,nsv466702 M 1557 4 0 PFKP HGDP00460,HGDP00632,HGDP00938,HGDP00940 esv26266 10 2678857 3124214 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16140,esv16519,esv17455,esv16419,esv15548,esv20385 M 451 2 5 PFKP NA06985,NA18511,NA18523,NA18858,NA18909,NA19147,NA19257 nsv470912 10 2682656 3123648 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544811,nssv544807,nssv544806,nssv544808,nssv544805 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PFKP HGDP00460,HGDP00632,HGDP00938,HGDP00940 nsv894753 10 2691181 3506105 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514925 S 6533 1 0 LOC100507034,PFKP,PITRM1 SP56096 esv1499917 10 2699221 2699221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282066 S 2 1 0 "" HuRef esv2223304 10 2701793 2702203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830377 S 1 0 1 "" NA18507 esv271098 10 2711237 2711543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2531830,essv2577400,essv2554253,essv2552065,essv2564569,essv2552500,essv2532329,essv2544581,essv2563078,essv2523520,essv2542962,essv2524417,essv2534592,essv2539584,essv2549594,essv2519906,essv2522152,essv2566250,essv2532855,essv2563773,essv2553476,essv2559004,essv2543576,essv2528078,essv2533812,essv2578388,essv2572961,essv2533514,essv2529898,essv2527425,essv2555978,essv2534213,essv2571868,essv2529609,essv2526482,essv2571496,essv2545730,essv2574144 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA12006,NA12043,NA12287,NA12489,NA12751,NA18502,NA18505,NA18526,NA18532,NA18537,NA18550,NA18555,NA18561,NA18563,NA18564,NA18566,NA18571,NA18572,NA18576,NA18603,NA18605,NA18638,NA18870,NA18907,NA18916,NA18940,NA18942,NA18944,NA18949,NA18952,NA18956,NA18959,NA18973,NA19093,NA19114,NA19238,NA19239,NA19240 esv273473 10 2711237 2711551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584129,essv2584785,essv2583379 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv894754 10 2714048 2830150 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577638 S 6533 1 0 "" IS34510 nsv894755 10 2733333 2782650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577730 S 6533 0 1 "" IS34543 nsv466706 10 2741062 2828853 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542184 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00773 dgv64n27 10 2773142 2794109 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466708,nsv466707 M 1557 0 2 "" NINDS_103,NINDS_95 nsv437093 10 2819929 2839913 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466974 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07348 nsv894756 10 2837094 2912766 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559700 S 6533 1 0 "" MS24098 nsv894757 10 2881279 3011935 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565011 S 6533 1 0 "" IS30332 esv1253819 10 2939303 2939303 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025762 S 2 1 0 "" HuRef nsv894758 10 2947286 3089351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559863 S 6533 1 0 "" MS24187 esv268771 10 2972511 2972881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496400,essv2507063,essv2510413 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18870,NA19172 nsv25275 10 2981380 2981433 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43853 M 24 "" nsv894759 10 2982761 3220337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559701 S 6533 1 0 LOC100507034,PFKP,PITRM1 MS24098 esv33607 10 2990878 2996081 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98517 S 51 1 0 "" 22352 esv1009800 10 3033846 3034490 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587041 S 3 0 1 "" HuRef nsv466709 10 3042436 3085281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542187 S 1557 0 1 "" NINDS_197 nsv894760 10 3048952 3102621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581540 S 6533 0 1 PFKP IS35622 esv997139 10 3073498 3078085 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565732 S 3 1 0 "" HuRef nsv894761 10 3073649 3128009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565012 S 6533 1 0 PFKP IS30332 nsv894762 10 3073649 3321092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540807 S 6533 1 0 LOC100507034,PFKP,PITRM1 MS15036 esv272157 10 3073724 3073809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516934 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 esv993380 10 3080721 3080794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570351 S 3 0 1 "" HuRef esv1355832 10 3080786 3080860 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930063 S 2 0 1 "" HuRef esv2522530 10 3085135 3086770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175040 S 1 0 1 "" NA18507 nsv470913 10 3085185 3157463 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544812,nssv544814,nssv544813 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PFKP HGDP00465,HGDP00466,HGDP01085 esv2254237 10 3085544 3086121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522895 S 1 0 1 "" NA18507 esv5338 10 3085670 3086092 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27779 S 1 0 1 Single Asian sample YH "" YH esv8640 10 3085728 3085961 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31081 S 1 0 1 "" SJK esv1763951 10 3085765 3085999 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930565 S 2 0 1 "" HuRef nsv825215 10 3090850 3131428 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441258 S 31 1 0 PFKP NA18969 esv2092770 10 3092972 3093693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4614088 S 1 0 1 "" NA18507 esv7932 10 3093285 3093339 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30373 S 1 0 1 "" SJK dgv593n71 10 3093497 3187592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894763,nsv894764 M 6533 0 2 LOC100507034,PFKP,PITRM1 MS10311,MS17208 nsv8595 10 3098962 3102529 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18963,nssv18468,nssv19029,nssv16541,nssv21351,nssv19508 M 31 6 0 Samples from several populations that are part of the HapMap project. PFKP NA07048,NA12155,NA12740,NA12872,NA18564,NA18860 nsv507530 10 3113018 3119018 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620591 S 4 1 0 PFKP NA15510 esv1312745 10 3117089 3117404 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186711 S 2 0 1 PFKP HuRef dgv594n71 10 3129701 3159771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894765,nsv894766 M 6533 0 2 PFKP IS32322,MS18276 nsv894767 10 3129701 3170951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565013 S 6533 1 0 PFKP,PITRM1 IS30332 dgv595n71 10 3129701 3187592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894771,nsv894769,nsv894768 M 6533 0 3 LOC100507034,PFKP,PITRM1 IS37646,MS10769,MS16153 nsv894770 10 3129701 3272738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559864 S 6533 1 0 LOC100507034,PFKP,PITRM1 MS24187 esv2750891 10 3131086 3196365 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983865,essv6983864,essv6983863 M 771 0 1 LOC100507034,PFKP,PITRM1 BEC_727 nsv516811 10 3140314 3145790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671083,nssv663438,nssv691864,nssv695303 M 2026 0 4 PFKP dgv596n71 10 3140973 3163581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894772,nsv894774 M 6533 0 2 PFKP IS38176,IS39417 dgv597n71 10 3141864 3155316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894775,nsv894773 M 6533 0 2 PFKP IS39233,MS10386 nsv894776 10 3144534 3159771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544273 S 6533 0 1 PFKP MS16315 esv2403236 10 3147297 3147657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527431 S 1 0 1 PFKP NA18507 nsv894777 10 3150127 3163581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571897 S 6533 0 1 PFKP IS32841 nsv894778 10 3150127 3180797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575092 S 6533 0 1 LOC100507034,PFKP,PITRM1 IS33684 nsv894779 10 3151474 3209445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599410 S 6533 0 1 LOC100507034,PFKP,PITRM1 IS41634 esv28525 10 3153069 3155871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15272 S 451 0 1 PFKP NA19114 nsv8596 10 3153427 3156558 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17786,nssv21833 M 31 0 2 Samples from several populations that are part of the HapMap project. PFKP NA18972,NA19007 nsv516917 10 3155316 3157463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691215,nssv676842,nssv690234,nssv683158,nssv654985 M 2026 0 5 PFKP nsv525229 10 3155316 3159771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701318 S 2026 0 1 PFKP nsv466711 10 3191072 3395527 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542188 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PITRM1 HGDP01030 nsv894780 10 3192065 3345303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534291 S 6533 1 0 PITRM1 MS11522 nsv524854 10 3194561 3220337 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700857 S 2026 1 0 PITRM1 nsv894781 10 3194561 3272738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565014 S 6533 1 0 PITRM1 IS30332 nsv470914 10 3194561 3395527 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544815 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PITRM1 HGDP01030 dgv35n21 10 3197632 3259317 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523645,nsv523100,nsv522065 M 2026 3 0 PITRM1 esv33742 10 3198223 3292032 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95804 S 51 1 0 PITRM1 21911 esv2094158 10 3247994 3248407 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572522 S 1 0 1 "" NA18507 esv5248 10 3248101 3248320 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27689 S 1 0 1 Single Asian sample YH "" YH esv1002468 10 3248113 3248187 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572894 S 3 0 1 "" HuRef nsv25143 10 3248114 3248188 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43721 M 24 "" esv1675339 10 3248207 3248282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281142 S 2 0 1 "" HuRef nsv24549 10 3248231 3248305 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43127 M 24 "" dgv213e1 10 3297225 3300298 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24552,esv1303,esv968 M 271 0 0 "" NA11831 nsv523637 10 3297225 3300566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699437 S 2026 0 1 "" nsv524242 10 3300566 3321092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700132 S 2026 0 1 "" nsv831769 10 3336707 3494942 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448175 S 95 0 1 "" esv27266 10 3346310 3347470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17871 S 451 0 1 "" NA19240 nsv25168 10 3347111 3347253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43746 M 24 "" esv1681309 10 3347418 3347418 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338763 S 2 1 0 "" HuRef esv1512000 10 3350367 3350436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671237 S 2 0 1 "" HuRef esv1607258 10 3350457 3350525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720811 S 2 0 1 "" HuRef esv269127 10 3374116 3374481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506012,essv2505868 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18861 nsv894782 10 3387728 3562522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561778 S 6533 0 1 "" MS25223 nsv25305 10 3405454 3405535 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43883 M 24 "" nsv5598 10 3418575 3438792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3857 S 9 1 0 "" NA12878 esv2183577 10 3439052 3439468 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596629 S 1 0 1 "" NA18507 esv1369919 10 3439261 3439312 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011011 S 2 0 1 "" HuRef nsv25192 10 3439262 3439312 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43770 M 24 "" esv2630414 10 3443271 3443714 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298096 S 1 1 0 "" NA18507 esv1643118 10 3443460 3443460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135349 S 2 1 0 "" HuRef esv2432419 10 3462876 3463618 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388184 S 1 1 0 "" NA18507 nsv831771 10 3483567 3658824 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448176 S 95 1 0 "" esv2114934 10 3489799 3490227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713220 S 1 0 1 "" NA18507 esv995749 10 3490481 3490572 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580671 S 3 0 1 "" HuRef esv1090591 10 3490489 3490581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927208 S 2 0 1 "" HuRef esv273627 10 3558985 3559327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582012,essv2583026 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv271354 10 3558986 3559326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575873,essv2540785,essv2571679,essv2546317,essv2521208,essv2526167,essv2542383,essv2536680,essv2522756,essv2543968,essv2570808,essv2556483,essv2568332,essv2545476,essv2577485,essv2570532,essv2548524,essv2521541,essv2576823,essv2550514,essv2535083,essv2544383,essv2551964,essv2520403,essv2547185,essv2529265,essv2558680,essv2564407,essv2553795,essv2559691,essv2565465,essv2576285,essv2564296,essv2555108,essv2537581,essv2546732,essv2540219,essv2552411,essv2539220,essv2561495,essv2544743,essv2523822,essv2538379,essv2542990,essv2540485,essv2524745,essv2564891,essv2539616,essv2519673,essv2522167,essv2532801,essv2567999,essv2528786,essv2567434,essv2541709,essv2570149,essv2553403,essv2572582,essv2566846,essv2543714,essv2556363,essv2527985,essv2578364,essv2573216,essv2533717,essv2566609,essv2529903,essv2534489,essv2522385,essv2531391,essv2573599,essv2538693,essv2536307,essv2538130,essv2548877,essv2533226,essv2547909,essv2525153,essv2563148,essv2558095 M 157 80 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12814,NA12828,NA12872,NA12878,NA12892,NA18489,NA18502,NA18519,NA18523,NA18526,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18566,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18853,NA18870,NA18871,NA18907,NA18940,NA18942,NA18944,NA18948,NA18949,NA18959,NA18960,NA18961,NA18964,NA19108 esv1001593 10 3559007 3559007 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570872 S 3 1 0 "" HuRef esv2650993 10 3563569 3566045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291741 S 1 0 1 "" NA18507 esv25351 10 3563693 3565449 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11830,esv20158 M 451 0 3 "" NA18523,NA18861,NA18916 esv1979273 10 3564035 3565567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830216 S 1 0 1 "" NA18507 nsv466712 10 3605831 3656716 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542189 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00185 nsv825216 10 3617307 3621267 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434567 S 31 0 1 "" NA18570 nsv510209 10 3688472 3694472 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618323 S 4 0 1 "" CHM nsv521412 10 3698015 3700626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694443 S 2026 0 1 "" nsv522710 10 3709164 3714611 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706122 S 2026 0 1 "" esv2189433 10 3711378 3711809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632070 S 1 0 1 "" NA18507 esv1006285 10 3711549 3711607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582480 S 3 0 1 "" HuRef esv1364374 10 3711561 3711620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661198 S 2 0 1 "" HuRef nsv24788 10 3711691 3711751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43366 M 24 "" nsv517787 10 3781224 3791413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693658,nssv673121,nssv683532,nssv686330,nssv690786,nssv667357,nssv657435,nssv670115,nssv683478,nssv667875,nssv680762,nssv682513,nssv664939,nssv686972,nssv653254,nssv689113,nssv667115,nssv679265,nssv661556,nssv688601,nssv656628,nssv680852,nssv677080 M 2026 0 23 "" nsv528577 10 3851214 3851344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705196 S 2026 0 1 "" nsv24874 10 3859411 3859477 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43452 M 24 "" nsv507531 10 3904172 3910172 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619114,nssv620623,nssv622823 M 4 3 0 "" NA10860,NA15510,NA18994 nsv894783 10 3962077 5544958 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576097 S 6533 0 1 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,CALML5,LOC100216001,LOC338588,NET1,tAKR,TUBAL3,UCN3 IS33871 esv1153252 10 3962612 3962612 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780401 S 2 1 0 "" HuRef nsv894784 10 3975194 4041081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536144 S 6533 1 0 "" MS12638 nsv24718 10 3977604 3981658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43296 M 24 "" nsv5609 10 3992849 4030114 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8379 S 9 0 1 "" NA12156 esv2401106 10 4008333 4008766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796897 S 1 0 1 "" NA18507 nsv831772 10 4029292 4202218 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448177 S 95 1 0 "" esv268869 10 4215877 4215983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504086,essv2503035,essv2496494,essv2507400,essv2509449,essv2501854,essv2498269 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18507,NA18510,NA18912,NA19129,NA19239,NA19240 esv272876 10 4215885 4216167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584692,essv2583492 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv275205 10 4230870 4233998 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585516 S 1250 0 1 "" dgv214e1 10 4276880 4313493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1403,esv1066,essv22245 M 271 0 0 "" NA11992 nsv8597 10 4279599 4282525 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20158,nssv18320,nssv21381,nssv20251 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA18860,NA19144,NA19240 nsv511452 10 4279738 4284071 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626065 S 1 0 1 "" 1 nsv512139 10 4279921 4281859 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624700 S 1 0 1 "" 1 nsv825217 10 4279974 4281125 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432239 S 31 0 1 "" AK20 dgv121n67 10 4279974 4281825 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825218,nsv825219 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821193 10 4279974 4281825 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420845 S 1 0 1 "" NA10851 esv3803 10 4280012 4281758 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26244 S 1 0 1 Single Asian sample YH "" YH esv1619476 10 4280063 4281683 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644864 S 2 0 1 "" HuRef esv7613 10 4280067 4281680 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30054 S 1 0 1 "" SJK esv27149 10 4280100 4281628 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10557 S 451 25 0 "" NA07037,NA11995,NA12004,NA12287,NA12489,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514556 10 4280174 4281552 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628039 S 1414 0 0 "" esv33732 10 4292983 4308917 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100656 S 51 1 0 "" 21656 nsv437653 10 4294810 4304845 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467534 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 nsv894785 10 4296421 4362629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582436 S 6533 0 1 "" IS35952 nsv507532 10 4313728 4319728 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619141,nssv620648,nssv623101 M 4 3 0 "" NA10860,NA15510,NA18994 nsv518582 10 4318928 4326606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696027 S 2026 0 1 "" nsv522540 10 4333047 4338396 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705919 S 2026 1 0 "" nsv894786 10 4375379 4431989 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540808 S 6533 1 0 "" MS15036 nsv894787 10 4375379 4847717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529745 S 6533 1 0 LOC100216001,LOC338588 MS10120 nsv437654 10 4418563 4449527 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467535 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 nsv436120 10 4426698 4433541 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466559 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv8598 10 4427110 4432204 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19019 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv21787 10 4427636 4431411 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20062 S 451 0 5 "" NA18505,NA18523,NA18909,NA19129,NA19225 nsv516066 10 4427657 4437552 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658317,nssv661737,nssv665965,nssv665985,nssv666545,nssv686631,nssv689030,nssv659465,nssv689658,nssv661487,nssv690149,nssv662309,nssv687438,nssv675922,nssv686595,nssv690064,nssv680462,nssv677666,nssv677354,nssv675156,nssv667242,nssv666939,nssv658634,nssv669369,nssv681113,nssv691010,nssv679186,nssv666430,nssv692701,nssv686698,nssv663462,nssv667116,nssv690787 M 2026 0 33 "" esv2421620 10 4427754 4429686 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5116979,essv5155554,essv5046288,essv5034128,essv5156271,essv5145247,essv5136169,essv5091897,essv5069785,essv5149047,essv5137182,essv5122418,essv5106685,essv5119867,essv5155857,essv5121387,essv5016353,essv5054156,essv5136717,essv5100644,essv5093699,essv5083134,essv5099977,essv5126103,essv5020759,essv5125667,essv5075646,essv5078569,essv5013031,essv5077296,essv5056329,essv5066672,essv5136246,essv5141333,essv5158352,essv5008455,essv5155700,essv5142336,essv5088316,essv5160736,essv5008631,essv5135448,essv5124201,essv5127013,essv5105117,essv5144096,essv5094678,essv5119212,essv5147200,essv5069206,essv5119435,essv5036593,essv5079210,essv5049546,essv5029725,essv5106544,essv5023083,essv5092204,essv5113471,essv5096743,essv5060662,essv5150277,essv5014559,essv5112199,essv5104642,essv5085551,essv5107386,essv5115406,essv5032990,essv5132686,essv5027485,essv5110966,essv5111417,essv5093426,essv5054772,essv5060852,essv5007816,essv5091550,essv5091166,essv5053732,essv5095097,essv5004173,essv5050265,essv5046975,essv5154349,essv5016396,essv5020440,essv5017066,essv5045599 M 1184 0 89 "" NA18485,NA18487,NA18488,NA18503,NA18505,NA18509,NA18518,NA18520,NA18852,NA18854,NA18862,NA18863,NA18909,NA18910,NA18934,NA18935,NA19041,NA19044,NA19094,NA19102,NA19107,NA19109,NA19117,NA19118,NA19127,NA19129,NA19150,NA19151,NA19171,NA19173,NA19176,NA19179,NA19182,NA19183,NA19184,NA19189,NA19198,NA19199,NA19203,NA19225,NA19235,NA19248,NA19249,NA19307,NA19309,NA19313,NA19316,NA19347,NA19350,NA19359,NA19371,NA19377,NA19385,NA19390,NA19399,NA19404,NA19431,NA19435,NA19437,NA19440,NA19472,NA19700,NA19702,NA19711,NA19714,NA19819,NA19828,NA19900,NA19901,NA19902,NA19904,NA19908,NA19917,NA19918,NA20126,NA20128,NA20317,NA20335,NA20348,NA21295,NA21333,NA21364,NA21479,NA21578,NA21580,NA21632,NA21634,NA21636,NA21826 nsv510210 10 4442301 4448301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621488 S 4 0 1 "" NA15510 esv2196877 10 4473754 4474214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798410 S 1 0 1 "" NA18507 nsv525911 10 4512299 4516111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702115 S 2026 0 1 "" esv1182790 10 4528112 4528112 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968962 S 2 1 0 "" HuRef nsv522046 10 4528492 4560425 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694816 S 2026 1 0 "" dgv598n71 10 4601369 4677532 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894791,nsv894788 M 6533 0 2 "" IS31563,IS35572 nsv894789 10 4602690 4650467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536537 S 6533 0 1 "" MS12827 nsv894790 10 4614233 4643807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581848 S 6533 0 1 "" IS35742 nsv527315 10 4617405 4626054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703740 S 2026 0 1 "" esv999409 10 4624287 4625241 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565175 S 3 0 1 "" HuRef esv2305302 10 4624608 4625310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962354 S 1 0 1 "" NA18507 esv1005287 10 4624803 4625121 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583823 S 3 0 1 "" HuRef esv1438751 10 4624811 4625130 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795679 S 2 0 1 "" HuRef esv6091 10 4624812 4625114 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28532 S 1 0 1 "" SJK esv2355818 10 4626680 4627096 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553679 S 1 0 1 "" NA18507 esv1003073 10 4639567 4639616 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566925 S 3 0 1 "" HuRef esv1228362 10 4639580 4639630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706280 S 2 0 1 "" HuRef esv272045 10 4670781 4671134 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511834,essv2496349,essv2513249,essv2504787,essv2498656,essv2497578,essv2493884 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18510,NA18907,NA19099,NA19138,NA19147,NA19210 esv2563012 10 4676396 4678007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218777 S 1 0 1 "" NA18507 esv2384891 10 4676882 4677831 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632927 S 1 0 1 "" NA18507 nsv511436 10 4690968 4701764 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626048 S 1 0 1 LOC100216001,LOC338588 1 esv2306271 10 4698321 4700704 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705987 S 1 0 1 LOC100216001 NA18507 nsv512140 10 4698452 4700526 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624701 S 1 0 1 LOC100216001 1 esv2527644 10 4698472 4701933 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282296 S 1 0 1 LOC100216001 NA18507 esv3781 10 4698489 4700592 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26222 S 1 0 1 Single Asian sample YH LOC100216001 YH esv991699 10 4698495 4702103 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564984 S 3 0 1 LOC100216001 HuRef esv9415 10 4698520 4700520 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31856 S 1 0 1 LOC100216001 SJK esv22743 10 4698559 4700493 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19494 S 451 27 0 LOC100216001 NA06985,NA07037,NA07045,NA11894,NA12414,NA12489,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820963 10 4698559 4700493 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420848 S 1 0 1 LOC100216001 NA10851 nsv525960 10 4747822 4748118 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702171 S 2026 1 0 "" nsv5620 10 4777958 4804661 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8383 S 9 0 1 "" NA12156 nsv894792 10 4822920 5488724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551691 S 6533 1 0 AKR1C1,AKR1C2,AKR1C3,AKR1C4,AKR1CL1,AKR1E2,NET1,tAKR,TUBAL3,UCN3 MS18976 esv27758 10 4847721 4848391 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12530 S 451 4 1 "" NA18523,NA19108,NA19129,NA19147,NA19225 nsv821103 10 4847721 4848391 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420849 S 1 0 1 "" NA10851 esv1373319 10 4847883 4848103 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738711 S 2 0 1 "" HuRef esv4850 10 4859465 4859759 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27291 S 1 0 1 Single Asian sample YH AKR1E2 YH esv23252 10 4900041 4900707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17803 S 451 0 1 "" NA19114 nsv519977 10 4924211 4938921 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697159 S 2026 1 0 tAKR nsv894793 10 4925482 4978818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515960 S 6533 0 1 tAKR SP56330 dgv2e19 10 4962658 5059071 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7467,esv5455 M 1 0 0 AKR1C1,AKR1C2 SJK nsv894794 10 4962761 5111745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523877 S 6533 0 1 AKR1C1,AKR1C2 SP54239 nsv7197 10 4974326 5019031 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3858 S 9 0 0 AKR1C1 NA12878 nsv5632 10 4984309 4987561 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv715 S 9 1 0 "" NA19240 esv1213194 10 4986863 4986912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848955 S 2 0 1 "" HuRef nsv825221 10 4989349 5036239 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435265 S 31 0 1 AKR1C1,AKR1C2 NA18942 esv1580698 10 4994874 5036786 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106075 S 2 0 0 AKR1C1,AKR1C2 HuRef esv9055 10 5001627 5030080 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31496 S 1 0 0 AKR1C1,AKR1C2 SJK dgv122n67 10 5004500 5012098 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825226,nsv825222 M 31 2 0 AKR1C1 NA18949,NA18997 dgv123n67 10 5005738 5030927 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825224,nsv825223,nsv825225 M 31 0 3 AKR1C1,AKR1C2 NA18547,NA18592,NA18947 nsv825227 10 5019975 5026187 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437613 S 31 1 0 AKR1C2 NA18949 nsv825228 10 5019975 5029589 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421906 S 31 1 0 AKR1C2 NA18997 nsv831773 10 5059805 5099716 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448178,nssv1448179 M 95 0 2 "" esv1658744 10 5064626 5064626 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272236 S 2 1 0 "" HuRef nsv466714 10 5132855 5165450 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542190 S 1557 0 1 AKR1C3 NINDS_235 esv2014971 10 5150336 5150762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786186 S 1 0 1 "" NA18507 esv24724 10 5153668 5154362 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9874 S 451 0 1 "" NA19257 nsv523631 10 5154836 5160495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699431 S 2026 0 1 "" esv2484274 10 5191523 5192599 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234210 S 1 1 0 AKR1CL1 NA18507 esv4943 10 5192052 5314829 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27384 S 1 0 1 Single Asian sample YH AKR1C4,AKR1CL1 YH esv988429 10 5192143 5192143 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566172 S 3 1 0 AKR1CL1 HuRef esv1074345 10 5192144 5192144 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297345 S 2 1 0 AKR1CL1 HuRef esv1314667 10 5201310 5201310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337020 S 2 1 0 AKR1CL1 HuRef esv1007439 10 5206971 5216919 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565071 S 3 0 1 AKR1CL1 HuRef nsv5643 10 5219780 5292665 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5156,nssv3859,nssv8387 M 9 0 3 AKR1C4 NA12156,NA12878,NA19129 esv23753 10 5239890 5240922 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15040 S 451 0 3 AKR1C4 NA19147,NA19190,NA19225 nsv508566 10 5246836 5311354 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617375,nssv618939,nssv620172 M 4 0 3 AKR1C4 CHM,NA10860,NA15510 nsv435908 10 5275140 5283646 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466560 S 2 0 1 "" NA15510 dgv65n27 10 5275597 5387191 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466715,nsv466717 M 1557 0 2 "" HGDP00671,HGDP00672 esv2458647 10 5276350 5283732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315602 S 1 0 1 "" NA18507 dgv599n71 10 5276600 5370664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894795,nsv894796 M 6533 0 2 "" SP51067,SP55670 esv1926859 10 5277108 5283536 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893664 S 1 0 1 "" NA18507 esv1004363 10 5277188 5283869 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564746 S 3 0 1 "" HuRef nsv498717 10 5277299 5283364 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585433 S 9 0 1 "" esv27132 10 5366187 5368525 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11627 S 451 0 1 "" NA19147 esv2436381 10 5368587 5368793 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232015 S 1 0 1 "" NA18507 esv22286 10 5386324 5387499 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20978 S 451 0 2 "" NA11894,NA11995 nsv525615 10 5414465 5415422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701760 S 2026 0 1 "" nsv831774 10 5453556 5697427 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448180 S 95 1 0 CALML3,CALML5,NET1 dgv600n71 10 5489173 5548349 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894797,nsv894799 M 6533 0 2 CALML5,NET1 IS33684,MS17208 nsv894798 10 5493610 5710281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530674 S 6533 0 1 CALML3,CALML5 MS10311 esv995574 10 5512926 5513011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577977 S 3 0 1 "" HuRef esv1489809 10 5513003 5513089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306772 S 2 0 1 "" HuRef nsv24420 10 5513004 5513089 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42998 M 24 "" nsv523491 10 5532109 5760073 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699258 S 2026 1 0 ASB13,CALML3 esv33743 10 5537117 5542397 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93701 S 51 0 1 "" 21972 dgv215e1 10 5547024 5760430 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10496,essv13227 M 271 0 0 ASB13,CALML3 NA19131,NA19143 dgv216e1 10 5547024 5844786 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv831,esv812 M 271 ASB13,C10orf18,CALML3 esv1329930 10 5553209 5553209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855801 S 2 1 0 "" HuRef nsv894800 10 5562893 5611628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538651 S 6533 0 1 "" MS13770 nsv470915 10 5581025 5592880 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544816 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01412 dgv601n71 10 5590202 5621737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894802,nsv894801 M 6533 0 2 "" IS35484,MS11726 esv24679 10 5592128 5594507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17167 S 451 0 3 "" NA12489,NA18505,NA18511 esv992931 10 5595295 5595295 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579272 S 3 1 0 "" HuRef esv1295231 10 5609533 5609678 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739657 S 2 0 1 "" HuRef dgv217e1 10 5677111 5844786 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9028,essv14514 M 271 0 0 ASB13,C10orf18 NA19132,NA19202 nsv466718 10 5679913 5697533 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542194 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00893 nsv894806 10 5683517 5710281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532440 S 6533 0 1 "" MS10769 esv1096988 10 5684125 5684213 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058092 S 2 0 1 "" HuRef nsv466719 10 5685901 5702921 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542195 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00912 nsv519582 10 5686109 5760073 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656962,nssv676923,nssv663512,nssv672886,nssv690930 M 2026 5 0 ASB13 nsv894807 10 5687948 5731141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553941 S 6533 0 1 ASB13 MS20440 nsv8599 10 5689135 5759934 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21567 S 31 1 0 Samples from several populations that are part of the HapMap project. ASB13 NA19132 nsv466720 10 5692283 5755407 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542196 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASB13 HGDP00927 nsv470917 10 5694173 5755407 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544817 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASB13 HGDP00927 nsv818742 10 5694173 5755407 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418173 S 112 1 0 ASB13 NA19143 esv1004405 10 5698374 5698428 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569440 S 3 0 1 "" HuRef esv1003480 10 5698392 5698465 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579958 S 3 0 1 "" HuRef esv1717688 10 5698416 5698471 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718249 S 2 0 1 "" HuRef nsv442170 10 5705468 5757133 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ASB13 dgv19e55 10 5705780 5756864 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35082,esv34623 M 771 2 0 ASB13 NA19131,NA19143 dgv218e1 10 5705780 5760518 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14946,essv13294,essv8711 M 271 0 0 ASB13 NA19132,NA19200,NA19202 esv998388 10 5721694 5721694 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584068 S 3 1 0 ASB13 HuRef esv1243199 10 5721695 5721695 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206037 S 2 1 0 ASB13 HuRef nsv894808 10 5725307 5752093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546731 S 6533 0 1 ASB13 MS17208 nsv894809 10 5736488 5751226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509964 S 6533 0 1 ASB13 SP54956 nsv522415 10 5761659 5808499 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695198 S 2026 1 0 C10orf18 dgv1e49 10 5766827 6265193 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis esv34147,esv34061 M 270 ANKRD16,C10orf18,FBXO18,GDI2,IL15RA,IL2RA,MIR3155,MIR3155B,PFKFB3,RBM17 esv1004136 10 5769157 5771569 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563777 S 3 1 0 C10orf18 HuRef nsv8600 10 5773697 5776733 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18615 S 31 1 0 Samples from several populations that are part of the HapMap project. C10orf18 NA18537 nsv528504 10 5779060 5794617 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705111 S 2026 1 0 C10orf18 dgv36n21 10 5793743 5808499 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525080,nsv519891 M 2026 0 2 C10orf18 nsv831775 10 5844341 6040855 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448181 S 95 0 1 ANKRD16,C10orf18,FBXO18,GDI2,IL15RA nsv515935 10 5860400 5909845 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661133,nssv665378,nssv668657 M 2026 3 0 GDI2 nsv5654 10 5908371 5970640 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3860,nssv6272 M 9 0 2 ANKRD16 NA12156,NA12878 nsv825229 10 5926911 6007703 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439036 S 31 1 0 ANKRD16,FBXO18 NA18973 nsv436115 10 5928589 5933306 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466564 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv820964 10 5929120 5932698 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420850 S 1 0 1 "" NA10851 nsv825230 10 5929120 5932698 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437614,nssv1430749,nssv1428409,nssv1421907,nssv1424296,nssv1425959,nssv1439835 M 31 0 7 "" AK16,AK4,NA18537,NA18547,NA18947,NA18949,NA18997 esv1005627 10 5929488 5933390 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563583 S 3 0 1 "" HuRef nsv498718 10 5929565 5932851 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585434 S 9 0 1 "" esv1508321 10 5929592 5932850 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659479 S 2 0 1 "" HuRef nsv24093 10 5929629 5932883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42671 M 24 "" nsv825232 10 5929736 5932555 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436018,nssv1436841 M 31 2 0 "" NA18542,NA18566 esv28680 10 5929946 5932698 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12611 S 451 5 13 "" NA07045,NA11894,NA11931,NA12006,NA12239,NA12776,NA15510,NA18502,NA18517,NA18861,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225 nsv514565 10 5931469 5932380 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628040 S 1414 0 1 "" nsv437655 10 5940979 5950367 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467536 S 60 0 1 Samples from several populations that are part of the HapMap project. ANKRD16 NA19221 nsv520941 10 5943524 5944924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697699 S 2026 0 1 ANKRD16 nsv519773 10 5944306 5945237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685026,nssv684268,nssv658449,nssv660681,nssv686097 M 2026 0 5 ANKRD16 esv5719 10 5998504 5998690 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28160 S 1 0 1 FBXO18 SJK esv1007377 10 5998523 5998523 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573545 S 3 1 0 FBXO18 HuRef esv1168062 10 5998658 5998658 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962140 S 2 1 0 FBXO18 HuRef nsv519436 10 6037826 6048619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695508,nssv673982,nssv697046,nssv705266,nssv692418,nssv656196 M 2026 0 6 IL15RA dgv603n71 10 6055601 6063472 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894811,nsv894810,nsv894812 M 6533 0 4 IL15RA SP54043,SP54672,SP54956,SP54988 nsv525927 10 6099904 6118085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702131 S 2026 0 1 IL2RA esv5272 10 6104715 6104935 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27713 S 1 0 1 Single Asian sample YH IL2RA YH esv1000739 10 6104775 6104847 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584858 S 3 0 1 IL2RA HuRef nsv894813 10 6111459 6116790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506595 S 6533 0 1 IL2RA SP54381 nsv894814 10 6118038 6140731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529746 S 6533 1 0 IL2RA MS10120 esv2516054 10 6137027 6138394 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301439 S 1 0 1 IL2RA NA18507 esv2014648 10 6137185 6138077 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719118 S 1 0 1 IL2RA NA18507 esv4965 10 6137359 6137931 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27406 S 1 0 1 Single Asian sample YH IL2RA YH esv1011098 10 6137387 6137884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573282 S 3 0 1 IL2RA HuRef esv9342 10 6137392 6137888 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31783 S 1 0 1 IL2RA SJK esv1592945 10 6137392 6137890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949144 S 2 0 1 IL2RA HuRef nsv894815 10 6148445 6201787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529747 S 6533 1 0 RBM17 MS10120 nsv5665 10 6195040 6228217 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3862 S 9 1 0 PFKFB3,RBM17 NA12878 nsv819453 10 6198619 6198854 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419403 S 2 0 1 RBM17 AK1 esv2227403 10 6209310 6209796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666949 S 1 0 1 "" NA18507 esv4595 10 6209404 6209812 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27036 S 1 0 1 Single Asian sample YH "" YH esv999057 10 6209448 6209623 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581503 S 3 0 1 "" HuRef nsv894816 10 6213422 6230349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532441 S 6533 0 1 PFKFB3 MS10769 nsv894817 10 6213422 6291258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529748 S 6533 1 0 MIR3155,MIR3155B,PFKFB3 MS10120 nsv510211 10 6217949 6223949 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622284 S 4 0 1 "" NA10860 nsv437656 10 6223811 6229368 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467537 S 60 0 1 Samples from several populations that are part of the HapMap project. PFKFB3 NA19211 nsv7198 10 6230343 7465172 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11234 S 9 0 0 LOC100507127,LOC399715,LOC439949,MIR3155,MIR3155B,PFKFB3,PRKCQ,SFMBT2 NA15510 nsv894818 10 6250746 6262825 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503733 S 6533 1 0 PFKFB3 SP52095 dgv604n71 10 6250746 6268232 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894822,nsv894819,nsv894820,nsv894821 M 6533 12 0 PFKFB3 MS10946,MS11119,MS15242,MS18273,MS22179,SP51104,SP51483,SP55029,SP55966,SP56138,SP81388,SP81512 dgv66n27 10 6253813 6268232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466725,nsv466726 M 1557 2 0 PFKFB3 HGDP00760,HGDP01212 dgv605n71 10 6253966 6268232 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894826,nsv894827,nsv894824,nsv894823,nsv894828,nsv894825,nsv894829,nsv894830 M 6533 16 0 PFKFB3 MS14416,MS21159,MS23648,SP50802,SP51353,SP51368,SP52456,SP54057,SP54118,SP54581,SP55032,SP55729,SP56196,SP57506,SP57577,SP80959 nsv894831 10 6255263 6276338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546732 S 6533 0 1 PFKFB3 MS17208 nsv894832 10 6277162 6293657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509966 S 6533 0 1 PFKFB3 SP54956 dgv606n71 10 6277162 6312175 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894835,nsv894834,nsv894833 M 6533 0 6 PFKFB3 IS32322,IS33684,IS39233,IS41634,MS10311,MS17208 nsv521145 10 6281809 6286684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697813 S 2026 0 1 PFKFB3 nsv894836 10 6286684 6475380 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533444 S 6533 1 0 LOC399715,PFKFB3 MS11181 esv2626974 10 6291200 6293207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207976 S 1 0 1 PFKFB3 NA18507 nsv525622 10 6291258 6321221 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701770 S 2026 1 0 PFKFB3 dgv124n67 10 6291269 6292426 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825233,nsv825234 M 31 0 2 PFKFB3 NA18547,NA18947 esv994076 10 6291648 6293146 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564993 S 3 0 1 PFKFB3 HuRef nsv825235 10 6291821 6292426 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440505,nssv1421909,nssv1433020,nssv1436020,nssv1438305 M 31 0 5 PFKFB3 NA18564,NA18566,NA18951,NA18972,NA18997 nsv512142 10 6291846 6292964 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624703 S 1 0 1 PFKFB3 1 esv1353057 10 6292529 6292879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166891 S 2 0 1 PFKFB3 HuRef nsv24567 10 6292543 6292892 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43145 M 24 PFKFB3 nsv437094 10 6298439 6301710 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466975 S 60 0 1 Samples from several populations that are part of the HapMap project. PFKFB3 NA10831 esv271270 10 6311101 6311433 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571709,essv2532005,essv2521562,essv2576675,essv2529300,essv2565388,essv2561885,essv2552401,essv2539167,essv2561366,essv2534884,essv2553485,essv2559194,essv2556422,essv2538753,essv2568608,essv2549092,essv2554652 M 157 18 0 Samples from several populations that are part of the HapMap project. PFKFB3 NA07037,NA07346,NA11840,NA12006,NA12144,NA12154,NA12749,NA12812,NA12874,NA18502,NA18519,NA18523,NA18561,NA18605,NA18638,NA18871,NA19108,NA19147 nsv524324 10 6334539 6334810 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700229 S 2026 1 0 "" nsv521313 10 6334810 6335554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694432 S 2026 0 1 "" nsv528919 10 6383321 6392981 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705607 S 2026 1 0 LOC399715 nsv5676 10 6421206 6468956 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6278,nssv9925,nssv1862,nssv11235,nssv5171,nssv3863,nssv732 M 9 0 7 "" NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 nsv519424 10 6427226 6428934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691151,nssv681777,nssv681186,nssv656136,nssv701137 M 2026 0 5 "" esv1611433 10 6427640 6427640 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737802 S 2 1 0 "" HuRef nsv50 10 6433069 6462822 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv50 S 1 0 1 "" NA15510 nsv508567 10 6447688 6467643 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620195,nssv618976,nssv617376 M 4 0 3 "" CHM,NA10860,NA15510 dgv29n16 10 6450202 6457671 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435913,nsv436648 M 2 0 2 "" NA15510,NA18505 esv2605106 10 6450768 6458117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324528 S 1 0 1 "" NA18507 esv2249734 10 6451399 6457831 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820928 S 1 0 1 "" NA18507 nsv512143 10 6451436 6457806 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624704 S 1 0 1 "" 1 esv1004516 10 6451516 6457740 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563548 S 3 0 1 "" HuRef esv4721 10 6451553 6457713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27162 S 1 0 1 Single Asian sample YH "" YH nsv498719 10 6451569 6457653 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585435 S 9 0 1 "" esv1684899 10 6451586 6457652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672195 S 2 0 1 "" HuRef esv7971 10 6451587 6457635 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30412 S 1 0 1 "" SJK nsv25296 10 6464366 6464366 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43874 M 24 "" nsv5687 10 6577215 6596757 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8413 S 9 0 1 PRKCQ NA12156 nsv507533 10 6612947 6618947 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623139,nssv619268,nssv620213 M 4 3 0 PRKCQ NA10860,NA15510,NA18994 nsv515823 10 6636248 6637083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664888,nssv683122 M 2026 0 2 PRKCQ nsv5698 10 6646828 6672449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5179 S 9 1 0 LOC439949,PRKCQ NA19129 esv29586 10 6679156 6681566 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15693 S 451 0 3 "" NA18523,NA18916,NA19190 nsv516026 10 6679507 6679992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669490,nssv681498,nssv663464,nssv673580,nssv668529,nssv665794,nssv660028,nssv690790,nssv670224,nssv686633 M 2026 0 10 "" nsv437095 10 6689070 6706829 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466976 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10851 dgv219e1 10 6690997 6705355 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1075,essv21928,essv18912,esv1333,essv18572 M 271 0 0 "" NA10851,NA12057,NA12717 nsv820451 10 6692122 6704430 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420851 S 1 0 1 "" NA10851 nsv8601 10 6692231 6705474 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18498,nssv19067,nssv18175,nssv16571,nssv17152,nssv20683,nssv23310,nssv18993,nssv18350,nssv18667,nssv16789,nssv20188,nssv18786,nssv19059,nssv17816,nssv21863,nssv16895,nssv19049,nssv21471,nssv17672,nssv18645,nssv18376,nssv19538,nssv20281,nssv21554,nssv18034,nssv17694,nssv20772,nssv16960,nssv21597 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819619 10 6693820 6704202 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418595 S 2 1 0 "" AK1 esv29228 10 6694438 6704207 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13021 S 451 40 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv818743 10 6694791 6702141 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416256,nssv1416257 M 112 0 2 "" NA10851,NA12057 nsv517486 10 6694791 6885243 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677978,nssv685112,nssv679163,nssv684180,nssv674359,nssv689867,nssv682252,nssv701295,nssv674968,nssv691967,nssv689480,nssv652162,nssv682481,nssv674140 M 2026 4 10 LOC100507127 dgv125n67 10 6695143 6704430 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825236,nsv825237 M 31 9 0 "" AK4,NA18547,NA18552,NA18566,NA18582,NA18592,NA18942,NA18947,NA18973 nsv438163 10 6695312 6702141 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470238,nssv470237 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10851,NA12057 nsv442171 10 6697781 6704159 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv19047 10 6697781 6704674 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07034 nsv514568 10 6701263 6703900 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628041 S 1414 0 0 "" nsv894837 10 6702141 6776567 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526571 S 6533 1 0 "" SP57662 dgv607n71 10 6702141 6885243 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894839,nsv894842,nsv894844,nsv894838 M 6533 5 0 LOC100507127 IS31346,IS32532,MS18251,SP53601,SP54524 nsv894840 10 6702141 6885243 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521491,nssv1519721,nssv1521075,nssv1549429,nssv1524343 M 6533 3 2 LOC100507127 MS18226,SP50177,SP51402,SP52393,SP54993 dgv608n71 10 6711424 6769503 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894841,nsv894843 M 6533 2 0 "" SP52946,SP56852 nsv466729 10 6717773 6870714 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542201 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100507127 HGDP00970 nsv470918 10 6717773 6870743 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544818 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100507127 HGDP00970 nsv894845 10 6717773 6885243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563789 S 6533 0 1 LOC100507127 IS30076 esv2460983 10 6728988 6729147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373539 S 1 0 1 "" NA18507 esv2534183 10 6733844 6735308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320235 S 1 0 1 "" NA18507 nsv24159 10 6755290 6760952 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42737 M 24 "" dgv609n71 10 6783603 6885243 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894848,nsv894847,nsv894846 M 6533 3 0 LOC100507127 SP52946,SP56852,SP57662 nsv5709 10 6807308 6842045 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8419 S 9 0 1 "" NA12156 nsv24770 10 6898544 6898596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43348 M 24 LOC100507127 esv1088041 10 6901387 6901387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880358 S 2 1 0 LOC100507127 HuRef esv2518907 10 6915663 6920935 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339392 S 1 0 1 LOC100507127 NA18507 nsv512144 10 6915700 6918775 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624705 S 1 0 1 LOC100507127 1 esv23743 10 6916778 6919792 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11953 S 451 2 0 LOC100507127 NA12156,NA12749 esv1768453 10 6916921 6917519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183222 S 2 0 1 LOC100507127 HuRef esv1437046 10 6917545 6917545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3910136 S 2 1 0 LOC100507127 HuRef nsv825238 10 6934499 6935949 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434496 S 31 0 1 "" NA18592 nsv522047 10 6974651 6980620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694817 S 2026 1 0 "" nsv5720 10 7041756 7073564 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5188 S 9 1 0 "" NA19129 esv25146 10 7053215 7053835 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11354 S 451 3 0 "" NA11995,NA12239,NA19257 nsv831776 10 7056910 7215168 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448182 S 95 1 0 "" esv23055 10 7117049 7118324 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10411,esv15638 M 451 37 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821290 10 7117049 7118324 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420852 S 1 0 1 "" NA10851 nsv819107 10 7117216 7118995 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419324 S 2 1 0 "" AK1 dgv126n67 10 7117223 7118192 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825239,nsv825240 M 31 0 4 "" AK2,NA18547,NA18592,NA18969 esv33831 10 7117477 7117975 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98682,essv101264,essv100645,essv101085,essv98321,essv96940,essv97811,essv95481,essv95394,essv97382,essv99074,essv96240,essv99867,essv93230,essv99628,essv92599,essv99157,essv100213 M 51 2 16 "" 21606,21618,21656,21693,21772,21817,21837,21847,21872,21879,21938,22007,22086,22170,22217,22233,22275,22286 nsv8603 10 7133008 7180070 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21584 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 esv28126 10 7134215 7179432 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15727 S 451 1 0 "" NA18517 dgv220e1 10 7136154 7179524 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17372,esv1048,esv1297 M 271 0 0 "" NA18517 esv999815 10 7189176 7189176 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578339 S 3 1 0 "" HuRef nsv525522 10 7202210 7205112 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701655 S 2026 0 1 "" nsv831777 10 7215213 7380088 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448186 S 95 1 0 SFMBT2 esv1259186 10 7289447 7289498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679025 S 2 0 1 SFMBT2 HuRef nsv831778 10 7309813 7486069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448187 S 95 0 1 SFMBT2 nsv517524 10 7356969 7357132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679611,nssv672235,nssv667308,nssv658318,nssv662397,nssv688682,nssv667489,nssv678061,nssv657710,nssv652923,nssv661955,nssv691304,nssv675361,nssv668918,nssv675103,nssv673983,nssv652273,nssv691324 M 2026 0 18 SFMBT2 nsv894849 10 7392642 7636054 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566914 S 6533 1 0 SFMBT2 IS30976 nsv831779 10 7402163 7545264 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448188 S 95 0 1 SFMBT2 nsv825241 10 7411007 7411615 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432240 S 31 0 1 SFMBT2 AK20 nsv5731 10 7416261 7428058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2826 S 9 1 0 SFMBT2 NA18555 nsv518530 10 7441387 7447340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695973 S 2026 0 1 SFMBT2 esv2234111 10 7459978 7460619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733263 S 1 0 1 SFMBT2 NA18507 esv1635316 10 7460180 7460180 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661705 S 2 1 0 SFMBT2 HuRef dgv221e1 10 7463502 7777745 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5174,esv762,esv736 M 271 0 0 ITIH5,SFMBT2 NA18611 essv6532 10 7537823 7672510 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ITIH5 NA18611 esv34803 10 7548120 7600950 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988224,essv6979707,essv6979706 M 771 0 1 "" NA18611 nsv24066 10 7595081 7595081 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42644 M 24 "" nsv507534 10 7596624 7602624 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620248,nssv623179 M 4 2 0 "" NA15510,NA18994 esv2637885 10 7608060 7608706 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377861 S 1 1 0 "" NA18507 nsv825243 10 7608430 7608873 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421910 S 31 0 1 "" NA18997 esv2611409 10 7608654 7608778 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266965 S 1 0 1 "" NA18507 nsv894850 10 7659611 7756647 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537689 S 6533 0 1 ITIH5 MS13293 esv21953 10 7667567 7673516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14406 S 451 0 2 ITIH5 NA12239,NA18907 nsv5743 10 7674698 7705435 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5196 S 9 1 0 ITIH5 NA19129 esv1076235 10 7675440 7675440 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905675 S 2 1 0 ITIH5 HuRef esv993971 10 7679519 7679577 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569769 S 3 0 1 ITIH5 HuRef esv1437774 10 7679589 7679648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671163 S 2 0 1 ITIH5 HuRef nsv518197 10 7688196 7699938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695621 S 2026 0 1 ITIH5 nsv521675 10 7694507 7701017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698294 S 2026 0 1 ITIH5 esv1540875 10 7706776 7706776 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021220 S 2 1 0 ITIH5 HuRef esv22058 10 7748912 7749662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18413 S 451 0 3 ITIH5 NA11995,NA19114,NA19190 nsv525066 10 7756647 7762854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701119 S 2026 0 1 "" esv1496692 10 7802126 7802126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723862 S 2 1 0 ITIH2 HuRef esv2606150 10 7818828 7820468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374673 S 1 0 1 ITIH2 NA18507 esv1652715 10 7819629 7819679 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984014 S 2 0 1 ITIH2 HuRef esv2492826 10 7833111 7834635 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260645 S 1 0 1 "" NA18507 esv2074151 10 7833659 7834250 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566962 S 1 0 1 "" NA18507 esv5007 10 7833739 7834206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27448 S 1 0 1 Single Asian sample YH "" YH esv9005 10 7833757 7834073 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31446 S 1 0 1 "" SJK esv2619860 10 7833829 7834049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346713 S 1 0 1 "" NA18507 nsv25062 10 7833837 7834057 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43640 M 24 "" esv1001263 10 8021429 8024675 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564515 S 3 1 0 TAF3 HuRef esv24837 10 8035746 8037167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14078 S 451 0 7 TAF3 NA07037,NA11894,NA11995,NA12414,NA12749,NA15510,NA18858 esv26156 10 8048700 8049223 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15378 S 451 1 0 TAF3 NA12239 nsv526356 10 8066615 8073669 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702649 S 2026 1 0 TAF3 nsv894851 10 8087556 8160149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570764,nssv1530676 M 6533 0 2 FLJ45983,GATA3,TAF3 IS32322,MS10311 nsv526540 10 8093782 8106184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702854 S 2026 0 1 TAF3 nsv831780 10 8115361 8288189 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448189 S 95 0 1 FLJ45983,GATA3 nsv5754 10 8119047 8152171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3864 S 9 1 0 FLJ45983,GATA3 NA12878 nsv517198 10 8126176 8138725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692844,nssv661956,nssv676891,nssv652234,nssv685364,nssv687099,nssv690281,nssv656197,nssv663810,nssv674076,nssv686803,nssv692443,nssv653991,nssv661823,nssv662398,nssv688950,nssv692743,nssv666743,nssv657180,nssv675440,nssv688463 M 2026 0 21 FLJ45983,GATA3 dgv610n71 10 8126176 8144214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894852,nsv894853 M 6533 0 2 FLJ45983,GATA3 SP54043,SP54988 esv1000455 10 8126716 8136939 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564858 S 3 0 1 FLJ45983,GATA3 HuRef nsv894854 10 8142278 8150944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499112 S 6533 0 1 GATA3 SP50663 nsv894855 10 8146753 8151415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519240,nssv1516269 M 6533 0 2 GATA3 SP56734,SP80988 nsv24651 10 8166274 8167853 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43229 M 24 "" esv269065 10 8188420 8188505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515862 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv825244 10 8252623 8253412 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421911 S 31 0 1 "" NA18997 esv1038186 10 8350449 8350591 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821804 S 2 0 1 "" HuRef esv1028407 10 8350778 8351050 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186646 S 2 0 1 "" HuRef esv1675342 10 8351860 8351860 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112832 S 2 1 0 "" HuRef esv1776845 10 8351894 8351894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845186 S 2 1 0 "" HuRef nsv518187 10 8445863 8447575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694209 S 2026 0 1 "" esv270139 10 8520103 8520435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511860,essv2493172,essv2501480,essv2506827,essv2493537 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18504,NA19093,NA19102,NA19137 esv23572 10 8602563 8605552 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11943,esv11874,esv12810 M 451 5 0 "" NA15510,NA18861,NA18907,NA18909,NA19225 nsv524933 10 8603840 8605681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700946 S 2026 0 1 "" esv1504461 10 8644768 8644818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922537 S 2 0 1 "" HuRef esv1423409 10 8644818 8644891 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647207 S 2 0 1 "" HuRef esv1930363 10 8668783 8669178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919632 S 1 0 1 "" NA18507 nsv525705 10 8677428 8678857 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701866 S 2026 1 0 "" nsv507535 10 8745028 8751028 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619282 S 4 1 0 "" NA10860 esv26386 10 8759225 8759878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15765 S 451 0 1 "" NA12239 esv2974 10 8821945 8822374 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25415 S 1 0 1 Single Asian sample YH "" YH esv5787 10 8821999 8822320 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28228 S 1 0 1 "" SJK esv2469394 10 8838248 8839739 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275456 S 1 0 1 "" NA18507 nsv5765 10 8861536 8893810 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6289 S 9 1 0 "" NA12156 nsv509342 10 8865929 8903152 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623705,nssv619288 M 4 2 0 "" NA10860,NA18994 nsv894856 10 8866996 8938660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594864,nssv1596948 M 6533 0 2 "" IS40047,IS40678 nsv516076 10 8887771 8894344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666043,nssv678500,nssv679266,nssv671388,nssv686524,nssv671114 M 2026 0 6 "" nsv528875 10 8887771 8906276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705555 S 2026 0 1 "" nsv5776 10 8915028 8949201 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3865 S 9 1 0 "" NA12878 nsv894857 10 8943233 8992879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505645 S 6533 0 1 "" SP53791 esv1753318 10 8951267 8951267 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739388 S 2 1 0 "" HuRef nsv825245 10 8976469 8983293 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436022 S 31 0 1 "" NA18566 esv1204468 10 9067426 9067426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118720 S 2 1 0 "" HuRef nsv466732 10 9093138 9147141 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542202 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00021 nsv528992 10 9114133 9114909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705694 S 2026 0 1 "" nsv520120 10 9121715 9150794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686378,nssv660951 M 2026 0 2 "" esv2059013 10 9123093 9123524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607908 S 1 0 1 "" NA18507 dgv611n71 10 9129166 9263430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894859,nsv894858 M 6533 0 2 "" MS14359,MS19746 esv1724118 10 9137755 9137805 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040300 S 2 0 1 "" HuRef esv270194 10 9315680 9316018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506410 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19108 nsv507536 10 9319645 9325645 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620289 S 4 1 0 "" NA15510 esv2750976 10 9323510 10463600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985651,essv6981711,essv6981710,essv6981712,essv6985650 M 771 1 0 "" BEC_328 nsv521006 10 9340193 9342332 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697732 S 2026 0 1 "" esv2625407 10 9341509 9342892 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276243 S 1 0 1 "" NA18507 esv2219507 10 9341780 9342406 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597292 S 1 0 1 "" NA18507 esv1265522 10 9355090 9355289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811662 S 2 0 1 "" HuRef nsv894860 10 9368657 9552098 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577771 S 6533 1 0 "" IS34555 esv2615300 10 9394575 9396079 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220356 S 1 0 1 "" NA18507 nsv894861 10 9409114 9422864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506319 S 6533 0 1 "" SP54196 nsv894862 10 9415982 9545488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511991 S 6533 0 1 "" SP55223 nsv894863 10 9424039 9449153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505581 S 6533 0 1 "" SP53687 esv1002404 10 9444967 9447912 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565373 S 3 1 0 "" HuRef esv2220703 10 9478034 9478555 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689128 S 1 0 1 "" NA18507 esv3129 10 9478169 9478453 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25570 S 1 0 1 Single Asian sample YH "" YH esv2553715 10 9478180 9479802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231467 S 1 0 1 "" NA18507 esv1513292 10 9478270 9478382 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718101 S 2 0 1 "" HuRef esv1004467 10 9478276 9478387 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568777 S 3 0 1 "" HuRef esv273708 10 9514835 9515063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581879,essv2582420,essv2583117 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv268755 10 9514835 9515077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557792,essv2565721,essv2571692,essv2521284,essv2542355,essv2536487,essv2523078,essv2556737,essv2568260,essv2523102,essv2577316,essv2570574,essv2548505,essv2521801,essv2576622,essv2550572,essv2535188,essv2520635,essv2529155,essv2558675,essv2564735,essv2577673,essv2553878,essv2559424,essv2576277,essv2564237,essv2537546,essv2528622,essv2546808,essv2556994,essv2552858,essv2538378,essv2542641,essv2524623,essv2565067,essv2534844,essv2561097,essv2539919,essv2549285,essv2519849,essv2559865,essv2522244,essv2566139,essv2532499,essv2567831,essv2567400,essv2541499,essv2563909,essv2553260,essv2535771,essv2572505,essv2559202,essv2569086,essv2573257,essv2566350,essv2529855,essv2557698,essv2556031,essv2534377,essv2573660,essv2543201,essv2576938,essv2572166,essv2536183,essv2533335,essv2547759 M 157 66 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA10851,NA11829,NA11840,NA11894,NA11919,NA11920,NA11931,NA11994,NA11995,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12828,NA12878,NA12891,NA12892,NA18501,NA18542,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18942,NA18948,NA18949,NA18953,NA18956,NA18959,NA18964,NA18965,NA18970,NA18973 nsv894864 10 9533843 9695901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561962 S 6533 0 1 "" MS25304 esv2504615 10 9550666 9551593 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293785 S 1 1 0 "" NA18507 esv268281 10 9550970 9551300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558145,essv2565698,essv2576061,essv2540761,essv2546366,essv2521181,essv2526134,essv2542483,essv2536504,essv2522779,essv2544127,essv2570965,essv2556489,essv2568277,essv2545629,essv2523388,essv2532032,essv2577543,essv2570665,essv2548515,essv2521520,essv2576797,essv2550836,essv2525540,essv2550272,essv2535269,essv2554266,essv2544548,essv2552165,essv2520662,essv2547573,essv2529408,essv2558304,essv2564756,essv2577813,essv2553653,essv2559689,essv2565379,essv2576135,essv2519935,essv2564310,essv2554830,essv2530884,essv2562028,essv2537670,essv2528502,essv2546914,essv2521023,essv2557338,essv2557167,essv2552520,essv2551807,essv2532380,essv2562783,essv2569493,essv2578547,essv2558821,essv2537060,essv2569838,essv2561611,essv2544916,essv2523812,essv2553063,essv2541395,essv2542867,essv2540518,essv2524499,essv2565100,essv2534659,essv2561271,essv2549333,essv2519922,essv2559972,essv2522091,essv2566041,essv2531095,essv2532462,essv2568027,essv2528680,essv2541489,essv2570092,essv2553492,essv2535567,essv2572492,essv2558980,essv2566852,essv2568915,essv2543683,essv2556435,essv2528172,essv2562363,essv2539246,essv2578134,essv2573197,essv2555253,essv2555763,essv2529852,essv2573927,essv2527527,essv2556025,essv2534328,essv2531310,essv2573345,essv2543078,essv2573332,essv2572072,essv2526856,essv2529546,essv2575750,essv2575315,essv2526393,essv2574777,essv2572692,essv2549802,essv2571320,essv2546057,essv2574309,essv2551432,essv2536068,essv2549063,essv2533334,essv2554360,essv2547760,essv2524812,essv2563268 M 157 125 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18520,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18943,NA18945,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18969,NA18973,NA19005,NA19093,NA19099,NA19102,NA19114,NA19138,NA19143,NA19225,NA19238,NA19239,NA19240,NA19257 esv274024 10 9550970 9551300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582086,essv2582704,essv2583016,essv2583893,essv2584483,essv2583326 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259590 10 9553875 9554154 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394211,essv2393870,essv2393805,essv2393685,essv2394018,essv2394361 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259769 10 9553883 9554162 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400213,essv2400057,essv2398773,essv2399059,essv2398484,essv2395786,essv2400591,essv2398078,essv2396266,essv2400784,essv2399193,essv2397270,essv2401058,essv2396969,essv2395568,essv2397673,essv2399232,essv2400630,essv2394996,essv2396147,essv2394939,essv2398518,essv2397174,essv2397865,essv2399000,essv2394671,essv2397938,essv2398235,essv2395301,essv2394902,essv2396172,essv2395463,essv2398132,essv2397104,essv2400828,essv2397743,essv2394526,essv2394596,essv2397000,essv2397384,essv2398753,essv2398392,essv2401001,essv2395163,essv2394809,essv2399547,essv2396362,essv2395918,essv2397027,essv2400487,essv2394520 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA10851,NA11894,NA12004,NA12043,NA12144,NA12716,NA12717,NA12776,NA12878,NA12891,NA12892,NA18501,NA18502,NA18508,NA18510,NA18511,NA18523,NA18545,NA18562,NA18572,NA18577,NA18605,NA18870,NA18907,NA18909,NA18916,NA18942,NA18944,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19137,NA19138,NA19238,NA19239,NA19240,NA19257 esv993311 10 9553977 9553977 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575745 S 3 1 0 "" HuRef nsv24386 10 9553979 9553979 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42964 M 24 "" esv1037811 10 9554017 9554017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350090 S 2 1 0 "" HuRef esv2446792 10 9559230 9560719 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387782 S 1 0 1 "" NA18507 dgv4e194 10 9559622 9560335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1923859,esv2252348 M 1 0 1 "" NA18507 esv3288 10 9559776 9560182 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25729 S 1 0 1 Single Asian sample YH "" YH esv1669458 10 9559834 9560140 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022303 S 2 0 1 "" HuRef esv6886 10 9559840 9560126 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29327 S 1 0 1 "" SJK nsv528006 10 9598231 9760187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704532 S 2026 0 1 "" esv26257 10 9671550 9672359 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13576 S 451 0 1 "" NA12239 nsv894865 10 9677953 9890305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534013 S 6533 0 1 "" MS11389 esv271913 10 9723679 9724009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558152,essv2542295,essv2536755,essv2523086,essv2548598,essv2576771,essv2550294,essv2565543 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11919,NA11920,NA12004,NA12045,NA12154,NA12234,NA12812 esv1526222 10 9737449 9737449 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994470 S 2 1 0 "" HuRef nsv831782 10 9775765 9939359 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448190 S 95 1 0 "" nsv466735 10 9801744 9826027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542203 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01272 nsv825246 10 9851724 9860068 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434569 S 31 0 1 "" NA18570 nsv520808 10 9894021 9903992 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678488,nssv697616,nssv684042,nssv675664 M 2026 3 1 "" nsv5787 10 9928183 9950290 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8433 S 9 0 1 "" NA12156 esv1004188 10 9936390 9936390 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569410 S 3 1 0 "" HuRef esv1557536 10 9936391 9936391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994432 S 2 1 0 "" HuRef esv267411 10 9944379 9944709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565575,essv2571840,essv2526253,essv2542433,essv2522748,essv2543823,essv2523319,essv2521579,essv2550526,essv2550454,essv2578068,essv2559742,essv2565292,essv2576132,essv2563947,essv2530536,essv2537713,essv2528547,essv2546897,essv2527217,essv2544600,essv2562829,essv2552995,essv2538440,essv2524484,essv2564985,essv2534864,essv2561116,essv2539713,essv2549175,essv2519840,essv2559922,essv2522105,essv2566328,essv2530947,essv2532636,essv2529024,essv2567455,essv2541468,essv2563766,essv2553252,essv2572432,essv2555207,essv2533531,essv2567267,essv2566602,essv2557637,essv2522639,essv2531479,essv2573412,essv2571891,essv2529608,essv2535960,essv2533362,essv2547695,essv2563523 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA10847,NA11829,NA11840,NA11918,NA11919,NA11931,NA11992,NA12004,NA12144,NA12155,NA12234,NA12761,NA12776,NA12812,NA12814,NA12828,NA12873,NA12878,NA12891,NA12892,NA18522,NA18526,NA18532,NA18542,NA18547,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18603,NA18605,NA18609,NA18943,NA18944,NA18947,NA18948,NA18953,NA18960,NA18961,NA18964,NA18973,NA19093 esv274154 10 9944381 9944709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582145,essv2582393,essv2582913 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv521865 10 9971030 9974150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694637 S 2026 0 1 "" nsv894866 10 10124572 10211648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577368 S 6533 0 1 "" IS34422 esv267678 10 10175340 10175678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517530,essv2515489,essv2518598,essv2516334,essv2513769 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12249,NA12287,NA12814,NA19143 dgv612n71 10 10217339 10280843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894868,nsv894867 M 6533 2 0 "" IS34659,IS40738 nsv507537 10 10245963 10251963 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623251 S 4 1 0 "" NA18994 esv2483833 10 10273574 10275861 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387889 S 1 0 1 "" NA18507 nsv831783 10 10332182 10523170 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448191 S 95 1 0 "" esv2602401 10 10347706 10349405 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321614 S 1 0 1 "" NA18507 esv2106937 10 10347925 10348655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656516 S 1 0 1 "" NA18507 esv2126779 10 10347964 10348415 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555224 S 1 0 1 "" NA18507 esv1465399 10 10349074 10349179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138720 S 2 0 1 "" HuRef esv259766 10 10405385 10405775 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394796,essv2400245,essv2396600,essv2398549,essv2396098,essv2399942,essv2397927,essv2394903,essv2395834,essv2395229,essv2399776 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11829,NA18507,NA18516,NA18523,NA18856,NA18907,NA18942,NA18961,NA19108,NA19129 esv2552547 10 10533095 10534556 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343790 S 1 0 1 "" NA18507 esv1987419 10 10533229 10533920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982365 S 1 0 1 "" NA18507 esv2786 10 10533369 10533792 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25227 S 1 0 1 Single Asian sample YH "" YH esv2610254 10 10563484 10564800 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263402 S 1 0 1 "" NA18507 esv2582389 10 10655342 10656350 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161604 S 1 1 0 "" NA18507 esv270783 10 10655724 10656011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562603,essv2578631,essv2556170,essv2575764,essv2572674 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18510,NA18871,NA19099,NA19143 nsv517484 10 10696357 10699411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674294,nssv693928,nssv652422,nssv652161,nssv682480,nssv685024 M 2026 0 6 "" esv34190 10 10729022 10760827 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv507538 10 10736247 10742247 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617797,nssv620331 M 4 2 0 "" CHM,NA15510 esv2617333 10 10745406 10746408 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389611 S 1 1 0 "" NA18507 esv2425962 10 10748090 10749509 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180906 S 1 0 1 "" NA18507 esv2357018 10 10748350 10749043 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731879 S 1 0 1 "" NA18507 esv994050 10 10748543 10748859 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585476 S 3 0 1 "" HuRef esv1586993 10 10748549 10748866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602057 S 2 0 1 "" HuRef esv275408 10 10771475 10772945 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585268,essv2585533 M 1250 1 1 "" esv3144 10 11021038 11021360 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25585 S 1 0 1 Single Asian sample YH LOC254312 YH esv1446524 10 11021108 11021232 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911167 S 2 0 1 LOC254312 HuRef esv271654 10 11049358 11049647 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513286,essv2497629,essv2502113 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19147,NA19257 nsv437658 10 11142770 11153628 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467539 S 60 0 1 Samples from several populations that are part of the HapMap project. CELF2 NA19202 nsv5798 10 11142861 11176316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2830 S 9 1 0 CELF2 NA18555 esv23060 10 11144438 11150989 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11311 S 451 0 1 CELF2 NA19225 nsv438164 10 11144870 11148911 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470240,nssv470239 M 269 0 2 Samples from several populations that are part of the HapMap project. CELF2 NA19200,NA19202 esv275337 10 11150201 11151824 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585278,essv2585455 M 1250 1 1 CELF2 nsv513005 10 11189160 11190423 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625662 S 1 1 0 CELF2 1 esv2495762 10 11189610 11190468 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352879 S 1 1 0 CELF2 NA18507 nsv24299 10 11279068 11279068 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42877 M 24 CELF2 nsv523553 10 11330357 11332978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699331 S 2026 0 1 CELF2 nsv509343 10 11351454 11395360 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623783,nssv619321 M 4 2 0 CELF2 NA10860,NA18994 esv1683473 10 11365866 11366123 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351065 S 2 0 1 CELF2 HuRef esv1301187 10 11366468 11366468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995339 S 2 1 0 CELF2 HuRef nsv507539 10 11386658 11392658 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617798 S 4 1 0 CELF2 CHM esv2043576 10 11414399 11414848 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658233 S 1 0 1 CELF2 NA18507 nsv524435 10 11428849 11432673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700365 S 2026 0 1 "" nsv5809 10 11431860 11477175 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8440 S 9 0 1 "" NA12156 esv2470708 10 11447138 11449413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235881 S 1 0 1 "" NA18507 esv23273 10 11447186 11449361 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14145 S 451 1 0 "" NA06985 nsv512145 10 11447597 11449210 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624706 S 1 0 1 "" 1 esv1211933 10 11448390 11448642 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713206 S 2 0 1 "" HuRef esv1790935 10 11448823 11448931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328493 S 2 0 1 "" HuRef esv1706924 10 11451646 11451646 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175793 S 2 1 0 "" HuRef nsv825247 10 11458573 11462427 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433825 S 31 0 1 "" NA18526 nsv526496 10 11472653 11479842 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702805 S 2026 0 1 "" nsv831784 10 11517942 11696987 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448192 S 95 1 0 USP6NL nsv515865 10 11518710 11524951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657607,nssv669232,nssv679038,nssv671366,nssv693050,nssv656942,nssv682950,nssv691348,nssv658588,nssv669526,nssv663719,nssv675718,nssv685084,nssv683682,nssv661131,nssv661592,nssv659913,nssv666811,nssv665076,nssv656690,nssv692700,nssv700865,nssv655351,nssv668091 M 2026 0 24 "" nsv525212 10 11518710 11533719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701294 S 2026 0 1 "" nsv24455 10 11596325 11596325 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43033 M 24 USP6NL nsv523722 10 11724048 11776962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699537 S 2026 0 1 "" nsv25070 10 11764619 11764619 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43648 M 24 "" esv259491 10 11803690 11804302 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393655,essv2394042,essv2394322 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259911 10 11803709 11804327 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394719,essv2398409,essv2397409,essv2397186,essv2400594,essv2400681,essv2395135,essv2396364,essv2395916,essv2397043,essv2400534 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18552,NA18566,NA18572,NA18576,NA18912,NA18953,NA19138,NA19238,NA19239,NA19240 nsv516751 10 11810177 11811548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670629,nssv677167 M 2026 0 2 "" dgv613n71 10 11886027 11919932 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894870,nsv894869 M 6533 2 0 C10orf47 SP50598,SP54993 dgv614n71 10 11886027 11947866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894874,nsv894875,nsv894871,nsv894872,nsv894873 M 6533 6 0 C10orf47,LOC219731 MS24971,SP51030,SP51339,SP55789,SP56373,SP80930 nsv523851 10 11887247 11922560 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699686 S 2026 1 0 C10orf47 nsv894876 10 11922560 12017306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546734 S 6533 0 1 C10orf47,LOC219731,UPF2 MS17208 nsv825248 10 11935494 11938757 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424389 S 31 0 1 C10orf47,LOC219731 NA18582 dgv615n71 10 11937071 11990940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894877,nsv894878 M 6533 0 2 C10orf47,LOC219731 IS33504,MS18276 nsv894879 10 11949902 12017306 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595151 S 6533 1 0 C10orf47,LOC219731,UPF2 IS40135 nsv894880 10 11966412 11997475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543574 S 6533 0 1 LOC219731 MS16153 esv1155898 10 11967417 11967534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021773 S 2 0 1 LOC219731 HuRef nsv528958 10 11976596 11977543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705654 S 2026 0 1 LOC219731 esv27750 10 11995143 11998442 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12188 S 451 1 0 "" NA19129 nsv512146 10 11996458 11999713 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624707 S 1 0 1 "" 1 nsv831785 10 12010856 12206081 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448193,nssv1448194 M 95 2 0 DHTKD1,UPF2 nsv523183 10 12046364 12104875 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698896 S 2026 1 0 UPF2 dgv37n21 10 12106033 12205253 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv515591,nsv519115 M 2026 12 0 DHTKD1,UPF2 dgv67n27 10 12140741 12205253 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466737,nsv466738 M 1557 2 0 DHTKD1 HGDP00905,HGDP00908 nsv470919 10 12140741 12205253 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544822,nssv544819,nssv544820 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DHTKD1 HGDP00905,HGDP00908,HGDP00985 nsv818745 10 12140741 12205253 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416378 S 112 1 0 DHTKD1 NA18856 nsv5820 10 12237312 12269448 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10668 S 9 1 0 NUDT5,SEC61A2 NA18956 nsv519669 10 12369408 12370719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696983 S 2026 0 1 "" nsv894881 10 12385446 12634442 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521902 S 6533 1 0 CAMK1D SP52627 nsv818746 10 12390693 12405881 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415979 S 112 1 0 "" NA12751 esv2601612 10 12495388 12495817 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236983 S 1 1 0 CAMK1D NA18507 nsv513006 10 12495543 12495645 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625663 S 1 1 0 CAMK1D 1 nsv517854 10 12546352 12569201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695258 S 2026 0 1 CAMK1D esv29514 10 12568608 12573749 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13346 S 451 0 1 CAMK1D NA18916 nsv522620 10 12568696 12573294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706016 S 2026 0 1 CAMK1D esv24335 10 12582533 12591348 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20901 S 451 1 0 CAMK1D NA19147 nsv466740 10 12582535 12591337 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542207 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMK1D HGDP00994 nsv470920 10 12582535 12591337 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544823 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMK1D HGDP00994 nsv894882 10 12582535 12606329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512721,nssv1525590 M 6533 0 2 CAMK1D SP55597,SP56726 nsv466741 10 12583135 12595447 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542208 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMK1D HGDP01336 nsv831786 10 12589313 12794168 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448195 S 95 0 1 CAMK1D,MIR4480 nsv894883 10 12594197 12617502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539245,nssv1555036 M 6533 0 2 CAMK1D MS14268,MS21163 nsv512147 10 12598611 12603009 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624708 S 1 0 1 CAMK1D 1 esv1011108 10 12599328 12606711 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565089 S 3 0 1 CAMK1D HuRef esv2505519 10 12599679 12603601 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276766 S 1 0 1 CAMK1D NA18507 esv2045613 10 12600286 12603165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952786 S 1 0 1 CAMK1D NA18507 esv3029 10 12600446 12603051 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25470 S 1 0 1 Single Asian sample YH CAMK1D YH esv7711 10 12600474 12603001 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30152 S 1 0 1 CAMK1D SJK esv1750238 10 12600479 12602993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202625 S 2 0 1 CAMK1D HuRef nsv498720 10 12601028 12602016 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585436 S 9 0 1 CAMK1D esv1543093 10 12604807 12604899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096475 S 2 0 1 CAMK1D HuRef esv3331 10 12636173 12636670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25772 S 1 0 1 Single Asian sample YH CAMK1D YH esv1080827 10 12636215 12636597 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891713 S 2 0 1 CAMK1D HuRef nsv466742 10 12643918 12704580 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542209 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMK1D,MIR4480 HGDP00057 nsv470921 10 12648682 12704580 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544824 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMK1D,MIR4480 HGDP00057 nsv510212 10 12661937 12667937 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621300,nssv622040,nssv624235,nssv618324 M 4 0 4 CAMK1D CHM,NA10860,NA15510,NA18994 nsv524505 10 12662309 12674843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700449 S 2026 0 1 CAMK1D esv2316922 10 12704987 12705365 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822673 S 1 0 1 CAMK1D NA18507 nsv825249 10 12745091 12746482 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424786,nssv1423591 M 31 0 2 CAMK1D NA18547,NA18999 esv1681196 10 12773369 12773437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3900741 S 2 0 1 CAMK1D HuRef nsv520469 10 12794868 12796155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671694,nssv674869 M 2026 0 2 CAMK1D nsv507540 10 12817571 12823571 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617799,nssv623324,nssv620400,nssv619047 M 4 4 0 CAMK1D CHM,NA10860,NA15510,NA18994 nsv24363 10 12843897 12846386 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42941 M 24 CAMK1D nsv894884 10 12847317 13097329 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598999 S 6533 1 0 CAMK1D,CCDC3,LOC283070 IS40817 esv2494590 10 12856737 12858559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285350 S 1 0 1 CAMK1D NA18507 esv22086 10 12856907 12858150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15645 S 451 0 2 CAMK1D NA15510,NA19190 nsv820494 10 12856907 12858150 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420853 S 1 0 1 CAMK1D NA10851 nsv831787 10 12919710 12976719 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448197,nssv1448201,nssv1448200,nssv1448198,nssv1448199,nssv1448202,nssv1448205,nssv1448206,nssv1448204,nssv1448203,nssv1448208,nssv1448211,nssv1448209,nssv1448210 M 95 8 6 "" nsv518323 10 12933112 12954527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695753 S 2026 1 0 "" esv26169 10 12933190 12934085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18488 S 451 0 1 "" NA18858 nsv5831 10 12944261 12979172 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv740 S 9 1 0 CCDC3 NA19240 nsv521491 10 13014830 13016729 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698101 S 2026 1 0 CCDC3 esv1974400 10 13021448 13021881 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915528 S 1 0 1 CCDC3 NA18507 esv259462 10 13047970 13048287 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394249 S 6 0 0 Samples from several populations that are part of the HapMap project. CCDC3 NA12878 dgv222e1 10 13089087 13104413 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv992,esv1194,essv24357 M 271 0 0 "" NA10839 nsv516198 10 13089891 13100416 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681497,nssv693991,nssv683270,nssv690251,nssv662676,nssv683490,nssv677256,nssv672959,nssv672127,nssv662647,nssv700716,nssv655165,nssv662373,nssv668378,nssv661705,nssv661648,nssv659364,nssv656194,nssv692047,nssv681400,nssv687541,nssv659680,nssv657911,nssv684063,nssv666741,nssv668696 M 2026 0 26 "" nsv818747 10 13094485 13100416 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417959,nssv1417970 M 112 0 2 "" NA06985,NA06991 nsv442570 10 13096556 13098846 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv24014 10 13096562 13100613 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10160 S 451 0 2 "" NA06985,NA07045 nsv818748 10 13096593 13100416 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416085,nssv1416174,nssv1415773 M 112 0 3 "" NA12813,NA12875,NA12891 dgv223e1 10 13096593 13104413 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23717,essv19373 M 271 0 0 "" NA07019,NA12813 nsv514543 10 13096880 13099116 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628042 S 1414 0 1 "" nsv8604 10 13097235 13101506 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18124 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv894885 10 13110955 13184287 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598460 S 6533 1 0 OPTN IS40817 esv2439266 10 13144093 13146242 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192548 S 1 0 0 "" NA18507 esv3766 10 13145005 13145287 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26207 S 1 0 0 Single Asian sample YH "" YH esv1638252 10 13145105 13145278 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136080 S 2 0 0 "" HuRef esv1002005 10 13293843 13302500 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565027 S 3 0 1 "" HuRef esv2078619 10 13297819 13298536 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613305 S 1 0 1 "" NA18507 esv4084 10 13297955 13298395 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26525 S 1 0 1 Single Asian sample YH "" YH esv7300 10 13298017 13298327 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29741 S 1 0 1 "" SJK esv2523863 10 13298942 13301774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201882 S 1 0 1 "" NA18507 nsv512148 10 13299008 13300895 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624709 S 1 0 1 "" 1 esv1972594 10 13299061 13300957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957336 S 1 0 1 "" NA18507 esv3259 10 13299237 13300845 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25700 S 1 0 1 Single Asian sample YH "" YH esv996651 10 13299261 13300751 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572984 S 3 0 1 "" HuRef esv8509 10 13299268 13300748 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30950 S 1 0 1 "" SJK esv6970 10 13303634 13303726 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29411 S 1 1 0 "" SJK nsv528026 10 13309937 13315649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704555 S 2026 0 1 UCMA nsv521216 10 13315559 13315649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685285,nssv691863 M 2026 0 2 UCMA esv2567513 10 13322831 13323832 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197541 S 1 1 0 "" NA18507 esv1456542 10 13323713 13323713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309363 S 2 1 0 "" HuRef nsv894886 10 13361864 13396273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558760 S 6533 0 1 PHYH MS23531 nsv831788 10 13373247 13551816 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448212 S 95 0 1 BEND7,PHYH,SEPHS1 dgv127n67 10 13383567 13459170 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825251,nsv825250 M 31 2 0 SEPHS1 NA18969,NA18973 nsv24348 10 13389542 13393158 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42926 M 24 "" esv1010238 10 13404798 13410760 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565300 S 3 0 1 SEPHS1 HuRef nsv508568 10 13476862 13558067 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620018 S 4 0 1 BEND7 NA15510 esv7966 10 13555559 13555886 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30407 S 1 0 1 BEND7 SJK esv1007603 10 13571378 13582716 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564046 S 3 0 1 BEND7 HuRef nsv825252 10 13574734 13631443 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439039 S 31 1 0 BEND7 NA18973 nsv825255 10 13591986 13625063 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441263 S 31 1 0 "" NA18969 nsv466743 10 13593351 13645374 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542210 S 1557 0 1 "" 1780862415_A esv21607 10 13610062 13611421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14189 S 451 0 2 "" NA07037,NA07045 nsv831789 10 13618087 13798901 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448222,nssv1448225,nssv1448223,nssv1448224,nssv1448221,nssv1448216,nssv1448220,nssv1448219,nssv1448213,nssv1448217,nssv1448214,nssv1448215 M 95 10 2 FRMD4A,PRPF18 nsv831790 10 13618087 13798901 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448226 S 95 0 1 FRMD4A,PRPF18 dgv224e1 10 13718676 13726648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8033,esv1156,esv1213 M 271 0 0 FRMD4A NA19103 esv988013 10 13731437 13731437 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582282 S 3 1 0 FRMD4A HuRef esv259917 10 13735752 13736051 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396533,essv2394681,essv2395334,essv2398347,essv2397228 M 144 0 0 Samples from several populations that are part of the HapMap project. FRMD4A NA18517,NA18870,NA18916,NA19093,NA19225 esv25190 10 13741390 13752438 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11845 S 451 1 0 FRMD4A NA07045 nsv508569 10 13755703 13859356 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618771 S 4 0 1 FRMD4A NA10860 esv2653994 10 13756970 13759096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313324 S 1 0 1 FRMD4A NA18507 esv275072 10 13801280 13802792 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585696,essv2586122 M 1250 1 1 FRMD4A esv26313 10 13858919 13859380 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18636 S 451 1 0 FRMD4A NA12749 nsv516579 10 13878610 13878665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682445,nssv669295,nssv686154,nssv689911,nssv680572 M 2026 0 5 FRMD4A esv32672 10 13902900 13917075 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100102 S 51 1 0 FRMD4A 22086 nsv5842 10 13993864 14021704 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8445 S 9 0 1 FRMD4A NA12156 nsv528027 10 14070325 14335307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704556 S 2026 1 0 FRMD4A nsv894887 10 14083458 14106528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565056 S 6533 0 1 FRMD4A IS30348 nsv516253 10 14091462 14091532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689231,nssv674602,nssv686127,nssv689413,nssv676370,nssv667078 M 2026 0 6 FRMD4A esv1329436 10 14180047 14180115 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248639 S 2 0 1 FRMD4A HuRef nsv5855 10 14265283 14310252 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1864 S 9 0 1 FRMD4A NA18555 nsv512149 10 14281071 14282997 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624712 S 1 0 1 FRMD4A 1 esv33167 10 14311402 14315255 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98692,essv97078 M 51 0 2 FRMD4A 21606,22075 nsv507541 10 14328396 14334396 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622824,nssv619053 M 4 2 0 FRMD4A NA10860,NA18994 esv34151 10 14426301 14833838 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FAM107B,MIR1265,MIR4293 esv272331 10 14436671 14436855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580730,essv2579421 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270041 10 14436671 14437000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558117,essv2536627,essv2531738,essv2577602,essv2576904,essv2550583,essv2552251,essv2564715,essv2565475,essv2554880,essv2530607,essv2537692,essv2528308,essv2532104,essv2544981,essv2523914,essv2538451,essv2524720,essv2565197,essv2560959,essv2539728,essv2522037,essv2566196,essv2530999,essv2532621,essv2567676,essv2528912,essv2541671,essv2570024,essv2563605,essv2535880,essv2572272,essv2556183,essv2530125,essv2527504,essv2534351,essv2531452,essv2535958,essv2538010,essv2525084 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA10851,NA11920,NA12006,NA12043,NA12154,NA12155,NA12489,NA12751,NA12812,NA12872,NA12873,NA12878,NA12891,NA18505,NA18526,NA18537,NA18547,NA18555,NA18558,NA18562,NA18563,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18609,NA18871,NA18949,NA18952,NA18959,NA18961 nsv5866 10 14453188 14480652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8454 S 9 1 0 MIR4293 NA12156 esv2381282 10 14476827 14477229 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846946 S 1 0 1 "" NA18507 nsv528028 10 14482353 14645668 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704557 S 2026 1 0 FAM107B,MIR1265 esv268082 10 14524796 14525105 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557838,essv2565716,essv2576013,essv2540879,essv2571702,essv2546264,essv2521087,essv2526288,essv2542406,essv2536776,essv2522781,essv2568306,essv2545499,essv2523375,essv2531713,essv2577461,essv2548345,essv2521477,essv2576718,essv2550795,essv2525537,essv2553951,essv2544387,essv2520498,essv2547179,essv2558447,essv2578070,essv2553749,essv2565510,essv2576332,essv2520220,essv2564025,essv2555105,essv2562142,essv2537358,essv2528330,essv2546640,essv2520955,essv2557370,essv2557072,essv2552376,essv2532103,essv2562616,essv2569350,essv2578714,essv2550014,essv2537004,essv2539217,essv2569722,essv2527384,essv2561393,essv2544826,essv2523814,essv2541106,essv2542774,essv2540336,essv2534545,essv2561054,essv2539577,essv2521986,essv2565994,essv2531041,essv2567308,essv2541697,essv2570021,essv2542190,essv2551068,essv2568913,essv2556397,essv2527973,essv2562307,essv2539503,essv2533883,essv2578242,essv2573155,essv2555416,essv2533639,essv2567110,essv2530153,essv2573957,essv2557659,essv2555839,essv2531425,essv2573553,essv2576951,essv2525782,essv2529576,essv2575523,essv2575103,essv2538489,essv2526476,essv2560654,essv2524128,essv2530195,essv2572869,essv2568775,essv2545107,essv2560241,essv2548112,essv2549695,essv2571304,essv2546019,essv2574394,essv2551403,essv2536092,essv2548754,essv2533324,essv2554595,essv2547713,essv2525092,essv2563369 M 157 111 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12287,NA12414,NA12716,NA12717,NA12750,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18561,NA18562,NA18563,NA18571,NA18572,NA18573,NA18582,NA18592,NA18593,NA18856,NA18858,NA18861,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18947,NA18949,NA18951,NA18953,NA18956,NA18961,NA18964,NA18970,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272507 10 14524797 14525106 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581838,essv2582676,essv2582991,essv2584207,essv2584554,essv2583432 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv894888 10 14552837 14571536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506182 S 6533 1 0 "" SP54050 esv23462 10 14573525 14576035 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18234 S 451 0 2 "" NA18508,NA19114 esv269104 10 14577762 14578092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571753,essv2570967,essv2523372,essv2531715,essv2548490,essv2550734,essv2558553,essv2564632,essv2562111,essv2562625,essv2558712,essv2544568,essv2523702,essv2552871,essv2542838,essv2540542,essv2560966,essv2539537,essv2549456,essv2521942,essv2532568,essv2528949,essv2541477,essv2569942,essv2563693,essv2553243,essv2535877,essv2559261,essv2551135,essv2573138,essv2533469,essv2555572,essv2567196,essv2527497,essv2522314,essv2531315,essv2573711,essv2543227,essv2572110,essv2525614,essv2575097,essv2560909,essv2530373,essv2545090,essv2551503 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11993,NA12004,NA12006,NA12045,NA12155,NA12750,NA12751,NA12874,NA18507,NA18516,NA18526,NA18537,NA18542,NA18550,NA18552,NA18562,NA18563,NA18564,NA18571,NA18576,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18858,NA18942,NA18944,NA18945,NA18947,NA18952,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19102,NA19137,NA19141,NA19172,NA19257 esv1071168 10 14577794 14577794 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304290 S 2 1 0 "" HuRef nsv831791 10 14587870 14764245 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448227 S 95 1 0 FAM107B nsv437659 10 14603103 14642449 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467540 S 60 0 1 Samples from several populations that are part of the HapMap project. FAM107B NA18863 nsv5877 10 14603497 14637130 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5203 S 9 1 0 FAM107B NA19129 esv3533 10 14650320 14650642 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25974 S 1 0 1 Single Asian sample YH FAM107B YH esv1195185 10 14650395 14650395 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727183 S 2 1 0 FAM107B HuRef esv1292577 10 14650423 14650423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134415 S 2 1 0 FAM107B HuRef esv2750884 10 14678945 14722486 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981929,essv6981930 M 771 1 0 FAM107B BEC_502 nsv517896 10 14684773 14712127 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694178 S 2026 1 0 FAM107B nsv5888 10 14740231 14775084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8455 S 9 0 1 FAM107B NA12156 nsv471664 10 14758181 14908383 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551007,nssv551009,nssv551012,nssv551013,nssv551008,nssv551011,nssv551010 M 48 3 4 CDNF,FAM107B NA10493,NA10494,NA10969,NA10979,NA15733,NA17014,NA17059 nsv894889 10 14763910 14780819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506714 S 6533 1 0 FAM107B SP54395 nsv894890 10 14774978 14817591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551855 S 6533 1 0 FAM107B MS18979 esv1960476 10 14790714 14791162 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821707 S 1 0 1 FAM107B NA18507 esv1027578 10 14790877 14790942 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351205 S 2 0 1 FAM107B HuRef nsv5899 10 14885510 14919653 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8460 S 9 1 0 CDNF NA12156 nsv519526 10 14887155 14887710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662804,nssv656692 M 2026 0 2 "" nsv522481 10 14887155 14888727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705848 S 2026 0 1 "" nsv523790 10 14887155 14896114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699617 S 2026 0 1 "" nsv523583 10 14932416 14934907 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699372 S 2026 1 0 HSPA14 nsv469720 10 14947286 15119384 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649741 M 265 0 0 Samples from several populations that are part of the HapMap project. DCLRE1C,HSPA14,MEIG1,SUV39H2 nsv831793 10 14952609 15140768 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448228 S 95 0 1 DCLRE1C,HSPA14,MEIG1,OLAH,SUV39H2 esv2184273 10 14976166 14976875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639657 S 1 0 1 SUV39H2 NA18507 esv3880 10 14976307 14976851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26321 S 1 0 1 Single Asian sample YH SUV39H2 YH esv997994 10 14976359 14976675 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574253 S 3 0 1 SUV39H2 HuRef esv6295 10 14976366 14976710 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28736 S 1 0 1 SUV39H2 SJK dgv68n27 10 14995184 15100889 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466745,nsv466744 M 1557 2 0 DCLRE1C,MEIG1 1780862043_A,1782681109_A nsv894891 10 14995184 15110621 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599347,nssv1565375,nssv1564360,nssv1529575,nssv1594006,nssv1547201,nssv1555377,nssv1586538,nssv1535736,nssv1595689,nssv1590480,nssv1538942,nssv1583283,nssv1521482,nssv1596225,nssv1541388,nssv1564681,nssv1599657,nssv1577049,nssv1572136,nssv1569135 M 6533 15 6 DCLRE1C,MEIG1 IS30197,IS30280,IS30407,IS31441,IS32888,IS34346,IS36396,IS37853,IS38515,IS39660,IS40298,IS40449,IS41603,IS41754,MS10060,MS12439,MS13867,MS15303,MS17232,MS21308,SP52386 dgv69n27 10 15015177 15110621 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466746,nsv466754,nsv466749,nsv466751,nsv466748,nsv466747,nsv466752 M 1557 7 0 DCLRE1C,MEIG1 1780862095_A,1780862378_A,HGDP00072,HGDP00464,HGDP00475,HGDP00647,NINDS_174 nsv435909 10 15023003 15104844 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466567 S 2 0 1 DCLRE1C,MEIG1 NA15510 nsv825256 10 15026347 15109077 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433826 S 31 1 0 DCLRE1C,MEIG1 NA18526 dgv616n71 10 15028402 15110621 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894892,nsv894893 M 6533 3 0 DCLRE1C,MEIG1 IS38394,SP54095,SP56505 nsv466753 10 15030375 15100889 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542220 S 1557 0 1 DCLRE1C,MEIG1 1780854253_A nsv470922 10 15030375 15100889 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544826,nssv544825,nssv544827,nssv544828 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DCLRE1C,MEIG1 HGDP00072,HGDP00464,HGDP00475,HGDP00647 nsv520429 10 15030375 15100889 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700260,nssv677144,nssv671367,nssv699519,nssv705897 M 2026 3 2 DCLRE1C,MEIG1 nsv24586 10 15043665 15046641 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43164 M 24 MEIG1 nsv894894 10 15049170 15110621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538652 S 6533 0 1 MEIG1 MS13770 dgv617n71 10 15060853 15117668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894895,nsv894896 M 6533 0 4 "" MS12973,MS15788,MS17779,MS25564 esv270336 10 15067519 15067798 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514487 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv831794 10 15075663 15230896 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448230 S 95 0 1 ACBD7,C10orf111,NMT2,OLAH,RPP38 nsv825257 10 15102366 15110833 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441264 S 31 0 1 "" NA18969 dgv618n71 10 15119705 15286352 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894898,nsv894897 M 6533 2 0 ACBD7,C10orf111,LOC100192204,NMT2,OLAH,RPP38 MS24280,SP81571 nsv894899 10 15178621 15227956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534966 S 6533 1 0 C10orf111,NMT2,RPP38 MS11858 nsv5910 10 15191731 15230981 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10676,nssv5214 M 9 2 0 NMT2 NA18956,NA19129 esv2465251 10 15231023 15231808 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281610 S 1 1 0 NMT2 NA18507 nsv509344 10 15253461 15371797 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619475 S 4 1 0 FAM171A1 NA10860 nsv5921 10 15267336 15295189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3866 S 9 1 0 FAM171A1 NA12878 esv998044 10 15291481 15292388 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565398 S 3 1 0 "" HuRef esv2502312 10 15311061 15312441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285983 S 1 0 1 FAM171A1 NA18507 esv2080157 10 15311561 15312032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852901 S 1 0 1 FAM171A1 NA18507 esv4462 10 15311579 15312009 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26903 S 1 0 1 Single Asian sample YH FAM171A1 YH esv1481642 10 15311830 15311929 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756316 S 2 0 1 FAM171A1 HuRef nsv894900 10 15325312 16272099 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560073 S 6533 1 0 FAM171A1,FAM188A,ITGA8 MS24280 nsv894901 10 15332012 15357643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529541 S 6533 1 0 FAM171A1 SP81571 nsv523449 10 15351764 15362323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699206 S 2026 0 1 FAM171A1 nsv466755 10 15416863 15559928 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542222 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM171A1 HGDP00423 esv1057266 10 15419644 15419644 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089908 S 2 1 0 FAM171A1 HuRef nsv466756 10 15433315 15497767 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542223 S 1557 0 1 FAM171A1 1780862093_A nsv24627 10 15566693 15572479 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43205 M 24 "" esv2597706 10 15571624 15573314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288050 S 1 0 1 "" NA18507 esv2401646 10 15572423 15572984 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498947 S 1 0 1 "" NA18507 esv4775 10 15572439 15572881 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27216 S 1 0 1 Single Asian sample YH "" YH esv2613874 10 15572478 15572787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214898 S 1 0 1 "" NA18507 esv1677000 10 15572483 15572793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055374 S 2 0 1 "" HuRef esv6118 10 15572488 15572787 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28559 S 1 0 1 "" SJK nsv523569 10 15673163 15681034 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699351 S 2026 1 0 ITGA8 nsv524808 10 15673163 15752451 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700800 S 2026 1 0 ITGA8 dgv38n21 10 15688249 15839648 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521993,nsv521815 M 2026 2 0 ITGA8 nsv516700 10 15714011 15714141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670223,nssv691009,nssv687436 M 2026 0 3 ITGA8 esv2498205 10 15726751 15728283 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263539 S 1 0 1 ITGA8 NA18507 esv32914 10 15734337 15734455 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100776 S 51 1 0 ITGA8 21656 nsv894902 10 15740601 15752184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504736 S 6533 0 1 ITGA8 SP52717 nsv894903 10 15741284 15744876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503592 S 6533 1 0 ITGA8 SP52077 nsv831795 10 15765868 15914974 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448233,nssv1448237,nssv1448235,nssv1448236,nssv1448231,nssv1448232,nssv1448234 M 95 7 0 FAM188A,ITGA8 esv27410 10 15833099 15833819 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20622 S 451 0 1 "" NA19114 esv275253 10 15970449 15970662 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585259,essv2585901 M 1250 1 1 "" esv272677 10 16040740 16041115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580507 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv270437 10 16040938 16041195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565583,essv2575815,essv2540723,essv2525922,essv2536466,essv2544096,essv2556550,essv2568292,essv2577627,essv2570388,essv2521778,essv2576566,essv2525435,essv2520580,essv2547287,essv2559631,essv2565375,essv2520075,essv2530575,essv2520733,essv2557300,essv2569564,essv2558835,essv2537130,essv2527319,essv2562924,essv2523524,essv2552988,essv2541253,essv2542745,essv2540252,essv2524749,essv2564933,essv2534635,essv2561013,essv2549453,essv2519524,essv2559850,essv2566277,essv2530943,essv2532574,essv2528726,essv2570211,essv2572516,essv2555525,essv2566522,essv2530138,essv2572030,essv2575397,essv2575171,essv2526650,essv2574918,essv2568472,essv2549971,essv2571273,essv2548836 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11829,NA11830,NA11831,NA11918,NA11920,NA11992,NA11994,NA11995,NA12043,NA12044,NA12144,NA12154,NA12156,NA12716,NA12717,NA12776,NA12812,NA12815,NA12873,NA18498,NA18499,NA18508,NA18516,NA18517,NA18522,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18579,NA18593,NA18609,NA18945,NA18948,NA18949,NA18973,NA19099,NA19102,NA19114,NA19138,NA19147,NA19225,NA19238 esv8711 10 16045831 16045936 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31152 S 1 1 0 "" SJK esv267432 10 16071547 16072015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505022,essv2507904,essv2511361,essv2500678,essv2512660,essv2499287,essv2507496,essv2495632,essv2510923,essv2512173,essv2498214 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18564,NA18570,NA18571,NA18577,NA18605,NA18638,NA18916,NA19116,NA19238,NA19240 esv273585 10 16071565 16072005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580167,essv2580456 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2488240 10 16260580 16262086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198518 S 1 0 1 "" NA18507 nsv894904 10 16273181 16517112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560074 S 6533 1 0 "" MS24280 dgv12n6 10 16275961 16282481 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv24860,nsv24831 M 24 "" nsv831796 10 16280117 16433050 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448238 S 95 0 1 "" esv24247 10 16324965 16331623 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19845 S 451 0 1 "" NA12287 esv1177744 10 16405453 16405453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212847 S 2 1 0 "" HuRef nsv25184 10 16405454 16405454 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43762 M 24 "" nsv521864 10 16426754 16429321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694636 S 2026 0 1 "" nsv894905 10 16450442 16523087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513511 S 6533 0 1 PTER SP55791 esv1364559 10 16485858 16485858 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812738 S 2 1 0 "" HuRef esv275478 10 16507248 16516277 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585289 S 1250 0 1 "" nsv894906 10 16523387 16582075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583734,nssv1564022,nssv1581645,nssv1579763 M 6533 0 4 PTER IS30146,IS35179,IS35675,IS36640 nsv515521 10 16545723 16558413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653446,nssv658424,nssv697041 M 2026 0 3 PTER nsv466757 10 16545723 16560790 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542224 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTER HGDP00747 nsv894907 10 16546507 16717604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560075 S 6533 1 0 C1QL3,PTER,RSU1 MS24280 esv269641 10 16588014 16588370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500437,essv2497142,essv2507881,essv2512705,essv2508211,essv2508671,essv2510005,essv2499296,essv2511602,essv2504927,essv2503152,essv2512380,essv2497416,essv2502707,essv2512769 M 157 15 0 Samples from several populations that are part of the HapMap project. PTER NA18537,NA18552,NA18564,NA18577,NA18579,NA18592,NA18593,NA18605,NA18940,NA18942,NA18943,NA18949,NA18959,NA18965,NA18980 nsv831797 10 16596515 16772314 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448239,nssv1448241,nssv1448242 M 95 0 3 C1QL3,RSU1 nsv25020 10 16601164 16608064 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43598 M 24 C1QL3 nsv515767 10 16624428 16650968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664720,nssv665793,nssv658488,nssv663570,nssv662186,nssv663118,nssv696038,nssv670155,nssv669955,nssv654309 M 2026 0 10 "" nsv831798 10 16625687 16703675 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448268,nssv1448264,nssv1448269,nssv1448246,nssv1448270,nssv1448245,nssv1448244,nssv1448247,nssv1448243,nssv1448267,nssv1448249,nssv1448263,nssv1448248,nssv1448250,nssv1448252,nssv1448253,nssv1448254,nssv1448256,nssv1448255,nssv1448257,nssv1448258,nssv1448265,nssv1448259,nssv1448266,nssv1448261,nssv1448260 M 95 1 25 RSU1 nsv831799 10 16713289 16884482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448271 S 95 0 1 RSU1 nsv894908 10 16722608 17514600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560076 S 6533 1 0 CUBN,LOC100128098,RSU1,ST8SIA6,TRDMT1,VIM MS24280 esv2446889 10 16727109 16728524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307409 S 1 0 1 RSU1 NA18507 esv2171921 10 16727793 16728321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768801 S 1 0 1 RSU1 NA18507 nsv24610 10 16727893 16727974 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43188 M 24 RSU1 dgv225e1 10 16741412 16752674 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv886,essv4526,esv882 M 271 0 0 RSU1 NA18623 nsv466758 10 16754472 17036690 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542225 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUBN,RSU1 HGDP01370 nsv470923 10 16759094 16822369 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544829 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RSU1 HGDP01370 nsv831800 10 16847674 17031424 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448272,nssv1448274 M 95 2 0 CUBN,RSU1 nsv894909 10 16889738 16958978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512922 S 6533 1 0 CUBN,RSU1 SP55652 esv275522 10 16894538 16898751 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586039 S 1250 0 1 RSU1 nsv470924 10 16946514 17033583 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544830 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUBN HGDP01370 nsv894910 10 16968441 17062975 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512923 S 6533 1 0 CUBN SP55652 nsv5932 10 17035300 17080853 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5239 S 9 0 1 CUBN NA19129 esv21978 10 17056289 17058721 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17505 S 451 1 0 CUBN NA19114 nsv466759 10 17062975 17087787 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542226 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUBN HGDP00208 nsv894911 10 17099468 17121145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579672 S 6533 1 0 CUBN IS35148 esv22833 10 17134463 17141618 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14050 S 451 0 1 CUBN NA11995 nsv5943 10 17138815 17171209 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5249 S 9 1 0 CUBN NA19129 nsv520521 10 17138941 17139022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671994,nssv677604 M 2026 0 2 CUBN nsv831801 10 17167690 17347576 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448275 S 95 1 0 CUBN,TRDMT1,VIM nsv508571 10 17281805 17378905 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622463 S 4 0 1 TRDMT1,VIM NA18994 nsv527849 10 17344934 17378015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704347 S 2026 0 1 "" dgv128n67 10 17350657 17355405 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825259,nsv825260,nsv825258 M 31 0 6 "" AK14,AK2,AK6,NA18537,NA18947,NA18973 esv25120 10 17350704 17355444 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21020 S 451 0 1 "" NA15510 nsv498721 10 17350717 17355516 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585438 S 9 0 1 "" nsv5954 10 17359958 17402858 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8462 S 9 0 1 ST8SIA6 NA12156 nsv825261 10 17376889 17377458 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434519,nssv1428459 M 31 2 0 "" NA18592,NA18947 esv259938 10 17376964 17377717 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399899,essv2397819,essv2400616,essv2400430 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18576,NA18592 esv2027380 10 17440507 17440940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976425 S 1 0 1 ST8SIA6 NA18507 nsv24310 10 17450264 17450412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42888 M 24 ST8SIA6 nsv5966 10 17517193 17551314 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3867 S 9 1 0 ST8SIA6 NA12878 nsv894912 10 17594265 17672568 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558027 S 6533 1 0 PTPLA MS23071 esv1789699 10 17673785 17673785 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933435 S 2 1 0 PTPLA HuRef esv2618457 10 17752523 17753108 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293283 S 1 1 0 STAM NA18507 esv268267 10 17752701 17753702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503831,essv2493198,essv2506081,essv2499868,essv2500603,essv2494500,essv2494118,essv2501249,essv2498728,essv2502181 M 157 10 0 Samples from several populations that are part of the HapMap project. STAM NA12761,NA18504,NA18523,NA18562,NA18571,NA18572,NA18871,NA19093,NA19138,NA19257 esv269515 10 17791952 17792278 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522722,essv2545333,essv2570647,essv2548340,essv2554081,essv2544341,essv2540144,essv2520949,essv2557010,essv2552405,essv2532288,essv2578576,essv2569853,essv2542725,essv2534665,essv2549305,essv2532553,essv2567873,essv2528721,essv2541752,essv2570287,essv2563736,essv2572576,essv2566860,essv2541916,essv2543542,essv2534004,essv2555452,essv2533628,essv2567009,essv2529990,essv2573879,essv2527591,essv2522472,essv2531554,essv2526734,essv2575461,essv2575071,essv2554732,essv2547952 M 157 40 0 Samples from several populations that are part of the HapMap project. STAM NA07346,NA07347,NA11931,NA12003,NA12044,NA12045,NA12287,NA12414,NA18489,NA18498,NA18501,NA18502,NA18505,NA18510,NA18520,NA18550,NA18561,NA18564,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18609,NA18853,NA18856,NA18870,NA18916,NA18943,NA18944,NA18947,NA18949,NA18951,NA18952,NA18960,NA18961,NA19005,NA19099,NA19102 esv997738 10 17814956 17818213 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586257 S 3 1 0 "" HuRef esv21990 10 17860892 17866017 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18948 S 451 0 1 TMEM236 NA19225 esv29303 10 17909632 17914297 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21178 S 451 0 4 MRC1 NA18508,NA18517,NA18523,NA19129 esv33746 10 17922308 17931734 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96699,essv98470 M 51 2 0 MIR511-1,MIR511-2,MRC1 22011,22352 nsv508572 10 17944334 18250213 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620037,nssv622481,nssv618825 M 4 0 3 MIR511-1,MIR511-2,MRC1,TMEM236 NA10860,NA15510,NA18994 esv23919 10 18107835 18112850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16285 S 451 0 1 TMEM236 NA19225 esv25021 10 18157333 18161250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19660 S 451 0 4 MRC1 NA18508,NA18517,NA18523,NA19129 nsv894913 10 18195905 18227588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558845 S 6533 0 1 MRC1 MS23579 esv24158 10 18264761 18265322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13799 S 451 0 1 "" NA12239 nsv528116 10 18318069 18322433 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704659 S 2026 0 1 SLC39A12 nsv894914 10 18341227 18375206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535580 S 6533 0 1 SLC39A12 MS12266 esv1273302 10 18370526 18370590 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961439 S 2 0 1 SLC39A12 HuRef nsv818749 10 18417349 18432132 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416086,nssv1416087 M 112 2 0 "" NA12801,NA12813 esv24470 10 18418913 18442744 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14927 S 451 1 0 "" NA07045 nsv519638 10 18448955 18454472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696965 S 2026 0 1 "" esv2286630 10 18450337 18450723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873129 S 1 0 1 "" NA18507 nsv522505 10 18493215 18505485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705873 S 2026 0 1 CACNB2 esv4994 10 18543052 18543757 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27435 S 1 0 1 Single Asian sample YH CACNB2 YH dgv13n6 10 18543082 18543596 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv24155,nsv24229 M 24 CACNB2 esv29251 10 18543653 18544170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17952 S 451 0 1 CACNB2 NA19114 esv259580 10 18585119 18585712 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394102,essv2393884 M 6 0 0 Samples from several populations that are part of the HapMap project. CACNB2 NA12878,NA12891 nsv825262 10 18585493 18587230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421912 S 31 0 1 CACNB2 NA18997 nsv5977 10 18693692 18727640 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv757 S 9 1 0 CACNB2 NA19240 esv29421 10 18710717 18711276 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20221 S 451 0 1 CACNB2 NA18523 esv1588507 10 18771859 18771933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3707827 S 2 0 1 CACNB2 HuRef esv1001661 10 18771876 18771951 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572484 S 3 0 1 CACNB2 HuRef esv28192 10 18787632 18801500 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12968 S 451 1 0 CACNB2 NA18523 nsv517404 10 18794501 18800641 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664970,nssv686438,nssv651926 M 2026 3 0 CACNB2 nsv5988 10 18795777 18829313 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5250 S 9 1 0 CACNB2 NA19129 esv34545 10 18861191 18948300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980065,essv6980066,essv6980064 M 771 1 0 CACNB2,NSUN6 NA18948 dgv226e1 10 18875331 18946513 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1249,esv1118,essv3337 M 271 0 0 NSUN6 NA18948 nsv511455 10 18877291 18894174 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626069 S 1 0 1 NSUN6 1 nsv466760 10 18879356 18945941 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542227 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NSUN6 HGDP00397 esv25204 10 18881143 18902755 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18824,esv20509 M 451 0 30 NSUN6 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18861,NA18907,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 dgv3e19 10 18885412 18898865 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9606,esv6009 M 1 0 0 NSUN6 SJK nsv512150 10 18886723 18890877 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624713 S 1 0 1 NSUN6 1 esv2446416 10 18889176 18890981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175162 S 1 0 1 NSUN6 NA18507 esv1520077 10 18890001 18890363 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957860 S 2 0 1 NSUN6 HuRef esv6083 10 18891917 18894674 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28524 S 1 0 0 NSUN6 SJK esv2294866 10 18898751 18900075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806382 S 1 0 1 NSUN6 NA18507 nsv466762 10 18972178 19016665 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542228 S 1557 1 0 ARL5B,NSUN6 NINDS_214 nsv894915 10 19024577 19297670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534546 S 6533 0 1 "" MS11666 nsv525910 10 19042556 19042716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702114 S 2026 0 1 "" esv4936 10 19070379 19070713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27377 S 1 0 1 Single Asian sample YH "" YH esv1006426 10 19070387 19070536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581087 S 3 0 1 "" HuRef esv1107323 10 19070459 19070609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931575 S 2 0 1 "" HuRef esv997980 10 19128023 19139873 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564282 S 3 0 1 "" HuRef nsv894916 10 19135473 19469421 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582451 S 6533 1 0 "" IS35954 nsv507542 10 19196776 19202776 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622922,nssv620498,nssv619064 M 4 3 0 "" NA10860,NA15510,NA18994 nsv518006 10 19200035 19210224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695419 S 2026 0 1 "" nsv5999 10 19203838 19239139 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9442 S 9 0 1 "" NA18517 esv26154 10 19217840 19226773 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19054 S 451 0 1 "" NA18517 nsv514546 10 19220688 19222076 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627089 S 1414 0 0 "" nsv466763 10 19245109 19374643 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542229 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01406 nsv470925 10 19245109 19374643 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544831 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01406 esv2528947 10 19256194 19256931 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243598 S 1 1 0 "" NA18507 esv268922 10 19256631 19257484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496693,essv2495271,essv2512515,essv2511828,essv2510662,essv2504238,essv2509899,essv2508322,essv2507826,essv2494469,essv2512700,essv2508195,essv2508605,essv2510039,essv2507495,essv2505295,essv2505787,essv2495679,essv2511675,essv2511076,essv2497880,essv2512358,essv2493032,essv2503695,essv2500721,essv2504803,essv2506659,essv2499118,essv2497504,essv2493894,essv2511986,essv2501855,essv2498146,essv2503591,essv2503921,essv2511526 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA11894,NA11992,NA18489,NA18499,NA18501,NA18505,NA18508,NA18561,NA18564,NA18572,NA18577,NA18579,NA18592,NA18593,NA18638,NA18853,NA18861,NA18916,NA18940,NA18944,NA18945,NA18949,NA18951,NA18960,NA18973,NA19099,NA19108,NA19114,NA19147,NA19210,NA19238,NA19239,NA19240 esv272347 10 19256640 19257413 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584335,essv2584614,essv2583760 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1343297 10 19256672 19256672 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976085 S 2 1 0 "" HuRef esv2566837 10 19258106 19259522 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177207 S 1 0 1 "" NA18507 nsv894917 10 19299030 19503373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531626,nssv1545366,nssv1531437 M 6533 0 3 "" MS10444,MS10574,MS16746 nsv528472 10 19336756 19425254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705075 S 2026 1 0 "" nsv516123 10 19360799 19384985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666361,nssv676819 M 2026 0 2 "" nsv894918 10 19430052 19506350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561316,nssv1537773 M 6533 0 2 "" MS13360,MS24932 esv2465653 10 19436821 19438449 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336054 S 1 0 1 "" NA18507 esv2030521 10 19437120 19437852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888599 S 1 0 1 "" NA18507 esv3626 10 19437273 19437707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26067 S 1 0 1 Single Asian sample YH "" YH esv9019 10 19437308 19437652 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31460 S 1 0 1 "" SJK nsv466764 10 19440851 20019440 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542230 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01287 dgv20e55 10 19447897 19876370 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2750885,esv2750886 M 771 0 2 "" BEC_16,SPC_38 nsv831802 10 19489267 19625894 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448276 S 95 1 0 "" esv2271246 10 19500741 19501178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986592 S 1 0 1 "" NA18507 esv2492431 10 19543879 19545493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313224 S 1 0 1 "" NA18507 esv2002737 10 19544469 19544976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619052 S 1 0 1 "" NA18507 nsv24740 10 19544652 19544790 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43318 M 24 "" nsv825263 10 19552383 19554506 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421913 S 31 0 1 "" NA18997 nsv894919 10 19554642 19798404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582452 S 6533 1 0 "" IS35954 nsv894920 10 19560756 19632472 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593911 S 6533 1 0 "" IS39626 esv272403 10 19590701 19591038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580883 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269256 10 19590707 19591035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558090,essv2525970,essv2542252,essv2536588,essv2523023,essv2548287,essv2550679,essv2520380,essv2558549,essv2553730,essv2519945,essv2520913,essv2544795,essv2524361,essv2559942,essv2521947,essv2532659,essv2567729,essv2559374,essv2566927,essv2533730,essv2529854,essv2555829,essv2575593,essv2571505,essv2574296,essv2537960,essv2532932,essv2554451 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10851,NA11918,NA11919,NA11920,NA11931,NA12045,NA12155,NA12716,NA12750,NA12763,NA12815,NA18498,NA18526,NA18555,NA18570,NA18571,NA18576,NA18577,NA18638,NA18853,NA18944,NA18949,NA18956,NA19099,NA19238,NA19240 dgv619n71 10 19599791 19723949 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894922,nsv894921 M 6533 0 5 "" IS35771,IS39011,MS11669,MS13727,MS15199 nsv466765 10 19619812 19709373 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542231 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01285 nsv825264 10 19626551 19704630 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441265 S 31 0 1 "" NA18969 dgv620n71 10 19627999 19750338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894923,nsv894925,nsv894924,nsv894927,nsv894926 M 6533 0 5 "" IS31179,IS35145,IS36656,IS40067,MS11467 esv267697 10 19634547 19634956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497495 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19147 esv1227869 10 19644366 19644366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248500 S 2 1 0 "" HuRef esv1024628 10 19644478 19644478 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329740 S 2 1 0 "" HuRef dgv621n71 10 19660445 19750338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894928,nsv894929 M 6533 0 2 "" IS30899,IS38263 essv7876 10 19734150 19780641 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19140 dgv227e1 10 19734150 20065000 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7262,esv813,esv787 M 271 0 0 "" NA18592 nsv894930 10 19736013 19833201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542105 S 6533 0 1 "" MS15643 nsv818750 10 19750338 19778819 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415928 S 112 0 1 "" NA19140 nsv466766 10 19766951 19798599 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542232 S 1557 0 1 "" 1798860114_A nsv8605 10 19786013 19794808 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20311,nssv16601,nssv17724,nssv16925,nssv19127,nssv18528,nssv19568,nssv18697,nssv21501,nssv19079,nssv17182,nssv18154,nssv17846,nssv21893 M 31 0 14 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA12155,NA12872,NA18563,NA18564,NA18860,NA18942,NA18972,NA18975,NA19007,NA19173,NA19240 esv29032 10 19789807 19798989 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10793 S 451 0 1 "" NA19108 nsv6010 10 19792324 19836701 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4619 S 9 0 1 "" NA19129 nsv8606 10 19804479 19808327 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18406 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 essv6443 10 19816916 20045002 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18592 esv34306 10 19817075 20157950 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979631,essv6979632,essv6979633,essv6988211,essv6988210 M 771 0 1 PLXDC2 NA18592 esv2541786 10 19825878 19826911 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210832 S 1 1 0 "" NA18507 esv268048 10 19826276 19826604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2550518,essv2552177,essv2547137,essv2530483,essv2540117,essv2520776,essv2557446,essv2557027,essv2532222,essv2562788,essv2569220,essv2578570,essv2550150,essv2558955,essv2536908,essv2538909,essv2527078,essv2561511,essv2538359,essv2565202,essv2534737,essv2549367,essv2519696,essv2567754,essv2566909,essv2569101,essv2543590,essv2556371,essv2528069,essv2562342,essv2567135,essv2543391,essv2575474,essv2575323,essv2560675,essv2574827,essv2572648,essv2545195,essv2560217,essv2571270,essv2545814,essv2574192,essv2551251,essv2547788,essv2524852 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA07357,NA12155,NA12489,NA12717,NA18486,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18547,NA18558,NA18561,NA18564,NA18566,NA18577,NA18853,NA18861,NA18870,NA18871,NA18907,NA18909,NA18947,NA18965,NA19099,NA19102,NA19116,NA19138,NA19143,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv274184 10 19826277 19826605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584017,essv2584822,essv2583700 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv24730 10 19826316 19830706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43308 M 24 "" nsv894931 10 19836964 20027650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562729 S 6533 0 1 "" MS25725 nsv894932 10 19844421 19898524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553582,nssv1557430 M 6533 0 2 "" MS20196,MS22677 nsv825266 10 19847025 20077188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434530 S 31 0 1 "" NA18592 nsv8607 10 19849781 19852667 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19139,nssv18558,nssv20341 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18564,NA19173,NA19240 esv1010439 10 19870700 19879795 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564017 S 3 0 1 "" HuRef nsv831804 10 19899406 20075599 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448277 S 95 1 0 "" nsv894933 10 19905763 20076086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558717 S 6533 0 1 "" MS23495 nsv523490 10 20014936 20081152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699257 S 2026 0 1 "" nsv825267 10 20035025 20037963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421914 S 31 0 1 "" NA18997 esv2455504 10 20036266 20039078 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234639 S 1 0 1 "" NA18507 dgv129n67 10 20036462 20038377 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825268,nsv825269 M 31 0 2 "" AK2,AK20 nsv8608 10 20036464 20038624 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16955,nssv18675,nssv20802,nssv17876,nssv18466,nssv19598,nssv18816,nssv19023,nssv17702,nssv16819,nssv18184,nssv19157,nssv23338,nssv18727 M 31 0 14 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA18502,NA18537,NA18552,NA18563,NA18572,NA19007,NA19221 esv2389515 10 20036485 20038157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635549 S 1 0 1 "" NA18507 nsv819054 10 20036513 20038421 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419358 S 2 0 1 "" AK1 esv8408 10 20036609 20038090 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30849 S 1 0 1 "" SJK dgv130n67 10 20036765 20038377 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825275,nsv825272,nsv825270,nsv825271,nsv825273 M 31 0 16 "" AK10,AK14,AK16,AK18,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18947 nsv825274 10 20036983 20037963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423592 S 31 0 1 "" NA18999 esv2421580 10 20037021 20038057 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150469,essv5034587,essv5153435,essv5121408,essv5154821,essv5007678,essv5027241,essv5057476,essv5097514,essv5156891,essv5060116,essv5148322,essv5102471,essv5099199,essv5089587,essv5091032,essv5130776,essv5082758,essv5045168,essv5087315,essv5055993,essv5141341,essv5012579,essv5149598,essv5071980,essv5101417,essv5007437,essv5018489,essv5008491,essv5006483,essv5093317,essv5075004,essv5108383,essv5042407,essv5060796,essv5102590,essv5086495,essv5029492,essv5092378,essv5151532,essv5048957,essv5134263,essv5036294,essv5084031,essv5021805,essv5138926,essv5096358,essv5144421,essv5068520,essv5031894,essv5031763,essv5095202,essv5099889,essv5072175,essv5100471,essv5096254,essv5017346,essv5024566,essv5079170,essv5050985,essv5103879,essv5104582,essv5080594,essv5107600,essv5029599,essv5080082,essv5002463,essv5005472,essv5003069,essv5150820,essv5049957,essv5066039,essv5018997,essv5081085,essv5036652,essv5127927,essv5030143,essv5123145,essv5067095,essv5091882,essv5124004,essv5016768,essv5145627,essv5146387,essv5099774,essv5119539,essv5103243,essv5149709,essv5143134,essv5067878,essv5007186,essv5068734,essv5130216,essv5028063,essv5012938,essv5052410,essv5028466,essv5132721,essv5068253,essv5065566,essv5110294,essv5118103,essv5134282,essv5026707,essv5003058,essv5101344,essv5153359,essv5004520,essv5061596,essv5093285,essv5083328,essv5045420,essv5033622,essv5061791,essv5088416,essv5036685,essv5093395,essv5041684,essv5142606,essv5144476,essv5096909,essv5095874,essv5160116,essv5013053,essv5026910,essv5140530,essv5069324,essv5156803,essv5113507,essv5049003,essv5058770,essv5028235,essv5033466,essv5066427,essv5124738,essv5119370,essv5082616,essv5109140,essv5082453,essv5132891,essv5123081,essv5011120,essv5072028,essv5008270,essv5009047,essv5152957,essv5116096,essv5143457,essv5023546,essv5085610,essv5122118,essv5065680,essv5099986,essv5011946,essv5005011,essv5054791,essv5090561,essv5111245,essv5108093,essv5005649,essv5075856,essv5116505,essv5036029,essv5026734,essv5110619,essv5045323,essv5079055,essv5100229,essv5158240,essv5009563,essv5047598,essv5092416,essv5143503,essv5017668,essv5121227,essv5010521,essv5081646,essv5040782,essv5124162,essv5094588,essv5152735,essv5035502,essv5113922,essv5137727,essv5026746,essv5081034,essv5021539,essv5111247,essv5111498,essv5062732,essv5098376,essv5114103,essv5106936,essv5109628,essv5101049,essv5056303,essv5128006,essv5158677,essv5028946,essv5097414,essv5082586,essv5035950,essv5125609,essv5032850,essv5039170,essv5047008,essv5126234,essv5031580,essv5079630,essv5005607,essv5073932,essv5078217,essv5043682,essv5040141,essv5014200,essv5008943,essv5102899,essv5045872,essv5104937,essv5092649,essv5142024,essv5107183,essv5111033,essv5129613,essv5154679,essv5073944,essv5050629,essv5142025,essv5127052,essv5004348,essv5115022,essv5025080,essv5019123,essv5065777,essv5157829,essv5050796,essv5049253,essv5047896,essv5102230,essv5148236,essv5143225,essv5086931,essv5017671,essv5059701,essv5157125,essv5119650,essv5070425,essv5157999,essv5141623,essv5116829,essv5035820,essv5100783,essv5062313,essv5110318,essv5057408,essv5142250,essv5070444,essv5070339,essv5149778,essv5029452,essv5103790,essv5083903,essv5011277,essv5124015,essv5076034,essv5099844,essv5057486,essv5019244,essv5076627,essv5027988,essv5090186,essv5138837,essv5039673,essv5115924,essv5151219,essv5133960,essv5022820,essv5088517,essv5140334,essv5063540,essv5087595,essv5065388,essv5038450,essv5141076,essv5063743,essv5151745,essv5029691,essv5118660,essv5113402,essv5144560,essv5070279,essv5131637,essv5062080,essv5037414,essv5044187,essv5009527,essv5108358,essv5144418,essv5078796,essv5141621,essv5011253,essv5019168,essv5134940,essv5142272,essv5072133,essv5034985,essv5152496,essv5147568,essv5096659,essv5107739,essv5004827,essv5142141,essv5074053,essv5135731,essv5024179,essv5027061,essv5052390,essv5094688,essv5160742,essv5016606,essv5051719,essv5090260,essv5011397,essv5120961,essv5133171,essv5097556,essv5134839,essv5158315,essv5118620,essv5058219,essv5144792,essv5004642,essv5008700,essv5108565,essv5143002,essv5030380,essv5047796,essv5136928,essv5036473,essv5004194,essv5149319,essv5085151,essv5054877,essv5098802,essv5011664,essv5117285,essv5142965,essv5014049,essv5043581,essv5045283,essv5131301,essv5071411,essv5024032,essv5089376,essv5133563,essv5122939,essv5128945,essv5146343,essv5020004,essv5133238,essv5156447,essv5139331,essv5122860,essv5097243,essv5052103,essv5110110,essv5044794,essv5015639,essv5003974,essv5070829,essv5030201,essv5133668,essv5081881,essv5095110,essv5135880,essv5054452,essv5145798,essv5137633,essv5067212,essv5109289,essv5082549,essv5033766,essv5033926,essv5054430,essv5091339,essv5087307,essv5082317,essv5060378,essv5146812,essv5048602,essv5158398,essv5014849,essv5025454,essv5139391,essv5052578,essv5053998,essv5102533,essv5111591,essv5097572,essv5040940,essv5078532,essv5054832,essv5146569,essv5085041,essv5106760,essv5066296,essv5119768,essv5005925,essv5027403,essv5152619,essv5017618,essv5154663,essv5140540,essv5034280,essv5121476,essv5096796,essv5035610,essv5124209,essv5152684,essv5143638,essv5144232,essv5065006,essv5151115,essv5017599,essv5152151,essv5062179,essv5092107,essv5152740,essv5032209,essv5145680,essv5091077,essv5022389,essv5077223,essv5107341,essv5019896,essv5154276,essv5158273,essv5108038,essv5043586,essv5071018,essv5127705,essv5144697,essv5066461,essv5049392,essv5134456,essv5039987,essv5122082,essv5103247,essv5148796,essv5113611,essv5077957,essv5007882,essv5003723,essv5085276,essv5050411,essv5144695,essv5052701,essv5137577,essv5008444,essv5039319,essv5105952,essv5031908,essv5032886,essv5131345,essv5100211,essv5034479,essv5049843,essv5016367,essv5017515,essv5025254,essv5147812,essv5118294,essv5153779,essv5029431,essv5027228,essv5158452,essv5003104,essv5080993,essv5075060,essv5109215,essv5155043,essv5034526,essv5003123,essv5116328,essv5082471,essv5149146,essv5140454,essv5093619,essv5088624,essv5019680,essv5112758,essv5039867,essv5119535,essv5082658,essv5121352,essv5067060,essv5041469,essv5081711,essv5092077,essv5095404,essv5074298,essv5158401,essv5063645,essv5027496,essv5148608,essv5132795,essv5043515,essv5123321,essv5021204,essv5152626,essv5127880,essv5029936,essv5120106,essv5113796,essv5019512,essv5098567,essv5101768,essv5006015,essv5088578,essv5018436,essv5088075,essv5065677,essv5044719,essv5126763,essv5148432,essv5085534,essv5067433,essv5087863,essv5063297,essv5138204,essv5006103,essv5022867,essv5160287,essv5084846,essv5096354,essv5022036,essv5075768,essv5029814,essv5073019,essv5035029,essv5108539,essv5081509,essv5127605,essv5051398,essv5141149,essv5039699,essv5014572,essv5141309,essv5148403,essv5066911,essv5052907,essv5059807,essv5070980,essv5100933,essv5041605,essv5070903,essv5090012,essv5120124,essv5097213,essv5093405,essv5132690,essv5080191,essv5002722,essv5127616,essv5048225,essv5082755,essv5009297,essv5085468,essv5090647,essv5126720,essv5112954,essv5052149,essv5120123,essv5112630,essv5017081,essv5055371,essv5108013,essv5039435,essv5021702,essv5012101,essv5032093,essv5107799,essv5073206,essv5003360,essv5158453,essv5121206,essv5014391,essv5129223,essv5097220,essv5084993,essv5064693,essv5121847 M 1184 0 592 "" NA06989,NA06994,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10831,NA10835,NA10838,NA10839,NA10840,NA10843,NA10846,NA10847,NA10852,NA10853,NA10854,NA10856,NA10859,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11839,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11993,NA11994,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12145,NA12146,NA12155,NA12156,NA12239,NA12248,NA12249,NA12264,NA12275,NA12282,NA12283,NA12286,NA12287,NA12340,NA12344,NA12347,NA12348,NA12383,NA12386,NA12400,NA12413,NA12546,NA12707,NA12708,NA12716,NA12718,NA12751,NA12766,NA12775,NA12776,NA12778,NA12801,NA12812,NA12813,NA12815,NA12817,NA12828,NA12830,NA12842,NA12843,NA12865,NA12874,NA12877,NA12878,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17968,NA17969,NA17970,NA17974,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17995,NA17996,NA17997,NA17999,NA18101,NA18105,NA18106,NA18107,NA18108,NA18109,NA18120,NA18125,NA18127,NA18134,NA18138,NA18139,NA18140,NA18143,NA18144,NA18146,NA18147,NA18150,NA18151,NA18152,NA18153,NA18156,NA18157,NA18159,NA18160,NA18166,NA18500,NA18507,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18552,NA18555,NA18557,NA18559,NA18561,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18609,NA18611,NA18614,NA18616,NA18617,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18631,NA18633,NA18634,NA18635,NA18636,NA18637,NA18639,NA18642,NA18645,NA18670,NA18674,NA18682,NA18685,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18852,NA18854,NA18855,NA18857,NA18873,NA18924,NA18925,NA18939,NA18943,NA18945,NA18947,NA18948,NA18955,NA18959,NA18960,NA18962,NA18963,NA18964,NA18971,NA18976,NA18977,NA18978,NA18981,NA18990,NA18993,NA18994,NA18997,NA18998,NA18999,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19035,NA19044,NA19056,NA19057,NA19059,NA19063,NA19064,NA19070,NA19075,NA19076,NA19077,NA19081,NA19096,NA19097,NA19108,NA19109,NA19114,NA19117,NA19118,NA19119,NA19121,NA19122,NA19123,NA19141,NA19142,NA19147,NA19148,NA19160,NA19181,NA19190,NA19197,NA19213,NA19221,NA19222,NA19239,NA19308,NA19311,NA19313,NA19316,NA19318,NA19324,NA19328,NA19350,NA19360,NA19371,NA19372,NA19374,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19391,NA19404,NA19430,NA19434,NA19436,NA19437,NA19448,NA19455,NA19457,NA19471,NA19473,NA19625,NA19651,NA19652,NA19653,NA19654,NA19656,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19703,NA19705,NA19713,NA19716,NA19718,NA19719,NA19722,NA19723,NA19724,NA19726,NA19746,NA19747,NA19748,NA19749,NA19755,NA19759,NA19760,NA19762,NA19763,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19780,NA19783,NA19788,NA19790,NA19819,NA19921,NA19983,NA19985,NA20126,NA20129,NA20276,NA20279,NA20281,NA20282,NA20300,NA20317,NA20319,NA20332,NA20334,NA20335,NA20336,NA20337,NA20340,NA20342,NA20345,NA20350,NA20356,NA20357,NA20358,NA20363,NA20502,NA20504,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20518,NA20520,NA20524,NA20527,NA20528,NA20530,NA20531,NA20535,NA20538,NA20541,NA20542,NA20543,NA20544,NA20586,NA20752,NA20753,NA20754,NA20755,NA20756,NA20759,NA20760,NA20766,NA20770,NA20772,NA20785,NA20786,NA20792,NA20796,NA20799,NA20800,NA20801,NA20802,NA20803,NA20805,NA20808,NA20809,NA20812,NA20815,NA20816,NA20819,NA20826,NA20850,NA20851,NA20852,NA20854,NA20856,NA20858,NA20862,NA20866,NA20870,NA20871,NA20872,NA20873,NA20874,NA20876,NA20877,NA20879,NA20882,NA20883,NA20884,NA20887,NA20888,NA20889,NA20890,NA20891,NA20894,NA20895,NA20897,NA20899,NA20900,NA20901,NA20903,NA20904,NA20906,NA20909,NA20910,NA21086,NA21091,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21103,NA21104,NA21108,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21142,NA21297,NA21301,NA21302,NA21311,NA21312,NA21314,NA21316,NA21317,NA21320,NA21333,NA21352,NA21353,NA21355,NA21357,NA21359,NA21364,NA21371,NA21381,NA21382,NA21383,NA21385,NA21386,NA21388,NA21389,NA21390,NA21391,NA21399,NA21401,NA21403,NA21414,NA21421,NA21423,NA21434,NA21436,NA21441,NA21442,NA21447,NA21448,NA21454,NA21455,NA21457,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21509,NA21517,NA21519,NA21520,NA21521,NA21524,NA21525,NA21526,NA21527,NA21574,NA21576,NA21577,NA21578,NA21582,NA21583,NA21599,NA21600,NA21611,NA21613,NA21616,NA21617,NA21619,NA21647,NA21683,NA21689,NA21693,NA21722,NA21723,NA21733,NA21776,NA21784,NA21826 nsv433509 10 20037021 20038057 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463390 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18555 esv23531 10 20037035 20038018 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11174 S 451 0 3 "" NA12156,NA12239,NA12287 esv5484 10 20042766 20042828 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27925 S 1 1 0 "" SJK esv2442048 10 20049382 20050829 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211406 S 1 0 1 "" NA18507 esv1348802 10 20098430 20098520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787882 S 2 0 1 "" HuRef esv270675 10 20171971 20172318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512562,essv2509938,essv2496511,essv2494958,essv2505762,essv2497474,essv2501811,essv2498206 M 157 8 0 Samples from several populations that are part of the HapMap project. PLXDC2 NA18489,NA18508,NA18510,NA18520,NA18861,NA19147,NA19239,NA19240 esv273241 10 20171987 20172192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584538,essv2583609 M 7 2 0 Samples from several populations that are part of the HapMap project. PLXDC2 NA19239,NA19240 esv1408727 10 20245263 20245263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359975 S 2 1 0 PLXDC2 HuRef nsv825277 10 20251186 20251738 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421915 S 31 0 1 PLXDC2 NA18997 esv1569434 10 20295377 20295377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891691 S 2 1 0 PLXDC2 HuRef nsv24525 10 20295378 20295378 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43103 M 24 PLXDC2 esv268822 10 20307006 20307430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507506 S 157 1 0 Samples from several populations that are part of the HapMap project. PLXDC2 NA18638 dgv228e1 10 20324355 20366013 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20718,esv970,esv1292,essv17417 M 271 0 0 PLXDC2 NA12752,NA12760 esv34798 10 20324355 20377124 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978891,essv6978892,essv6988066 M 771 0 1 PLXDC2 NA12760 esv35130 10 20339828 20368329 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978870,essv6988063 M 771 0 1 PLXDC2 NA12752 nsv438165 10 20344631 20359198 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470245,nssv470244,nssv470242,nssv470243 M 269 0 2 Samples from several populations that are part of the HapMap project. PLXDC2 NA12752,NA12760 nsv437096 10 20355379 20370658 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466977 S 60 0 1 Samples from several populations that are part of the HapMap project. PLXDC2 NA12752 esv2447411 10 20373158 20373228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315100 S 1 0 1 PLXDC2 NA18507 nsv510213 10 20431879 20437879 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622189 S 4 0 1 PLXDC2 NA10860 esv1437455 10 20455337 20455337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912952 S 2 1 0 PLXDC2 HuRef dgv131n67 10 20481012 20566970 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825279,nsv825278 M 31 0 2 PLXDC2 NA18969,NA18973 dgv70n27 10 20491614 20536276 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466768,nsv466767 M 1557 0 2 PLXDC2 HGDP00671,NINDS_183 nsv520788 10 20568678 20645194 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697610 S 2026 0 1 PLXDC2 nsv820086 10 20616545 20627335 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418597 S 2 1 0 "" AK1 nsv520736 10 20671419 20902433 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697582 S 2026 1 0 MIR4675 esv25899 10 20690091 20693253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14865 S 451 0 1 "" NA11894 esv2242823 10 20707069 20707775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980442 S 1 0 1 "" NA18507 esv3464 10 20707205 20707630 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25905 S 1 0 1 Single Asian sample YH "" YH esv5992 10 20707250 20707573 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28433 S 1 0 1 "" SJK esv1241617 10 20707265 20707585 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112741 S 2 0 1 "" HuRef dgv229e1 10 20726725 20949210 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24469,essv22353,essv20300,essv1269,essv4600,essv5849,essv22825,essv22075,essv2258,essv7789,essv6130,essv5402,essv16720,essv4832,essv21042,essv7187,essv18592,essv20381,essv7359,essv21297,essv14203,essv4411,essv5176,essv22942,essv2966,essv23352,essv6283,essv22894,essv6376,essv20963,essv17653,esv856,esv659,essv23060,essv23678,essv4901,essv19645,essv21777,essv23563,essv7719,essv19766,essv4641,essv21554,essv24062,essv18704,essv22764,essv24137,essv21679,essv226,essv18961,essv20187,essv20623,essv18191,essv1968,essv22003,essv6908,essv7559 M 271 0 0 MIR4675 NA06985,NA06991,NA06993,NA07019,NA07056,NA07357,NA10830,NA10835,NA10847,NA10855,NA10859,NA10863,NA11832,NA11881,NA11995,NA12004,NA12005,NA12056,NA12057,NA12144,NA12154,NA12155,NA12234,NA12239,NA12248,NA12750,NA12760,NA12801,NA12812,NA12873,NA12874,NA18524,NA18532,NA18540,NA18545,NA18547,NA18558,NA18561,NA18563,NA18570,NA18572,NA18573,NA18594,NA18605,NA18611,NA18633,NA18636,NA18948,NA18959,NA18966,NA18981,NA18995,NA19140,NA19142 nsv8609 10 20733816 20735002 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20371 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv528798 10 20739556 20823719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705471 S 2026 0 1 "" esv34621 10 20786200 20949210 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979294,essv6979293,essv6979292,essv6988146,essv6988145 M 771 0 1 MIR4675 NA18524 nsv466769 10 20818447 20854589 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542235 S 1557 1 0 "" 1780862431_A essv7891 10 20822154 20895478 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR4675 NA19140 nsv894934 10 20823719 20860835 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584671,nssv1553540,nssv1590824,nssv1572562,nssv1570176 M 6533 3 2 "" IS31821,IS33136,IS37116,IS38592,MS20146 nsv516763 10 20823719 20902433 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682550,nssv686155,nssv689564,nssv669333,nssv686439,nssv687660,nssv663437,nssv691578,nssv670059,nssv688713,nssv655546,nssv672234,nssv657452,nssv658408,nssv668527,nssv692416,nssv653110,nssv683459,nssv655517,nssv664971,nssv688809,nssv693992,nssv676539,nssv662854,nssv681761,nssv658425,nssv692048,nssv667043,nssv652921,nssv658589,nssv688600,nssv670578,nssv688183,nssv669826,nssv658165,nssv691710,nssv668239,nssv686175,nssv653276,nssv688101,nssv693025,nssv656111,nssv662677,nssv692186,nssv676515,nssv672388,nssv680610,nssv666712,nssv653453,nssv655705,nssv690507,nssv689112,nssv690436,nssv686016,nssv668092,nssv677168,nssv677466,nssv670978,nssv677487,nssv700957,nssv673136,nssv656581,nssv689535,nssv671426,nssv665857,nssv685790,nssv687763,nssv655658,nssv664865,nssv689621,nssv683503,nssv661314,nssv687342,nssv685529,nssv702996,nssv674043,nssv688437,nssv677294,nssv652006,nssv652972,nssv673499,nssv678961,nssv674522,nssv683819,nssv691617,nssv655623,nssv668398,nssv687713,nssv659365,nssv683556,nssv663606,nssv690279,nssv675997,nssv676567,nssv653669,nssv675957,nssv685741,nssv691894,nssv689371,nssv670684,nssv686414,nssv687315,nssv688830,nssv683530,nssv687904,nssv668874,nssv677079,nssv663368,nssv684329,nssv653716,nssv693346,nssv664575,nssv671102,nssv687542,nssv692772,nssv687687,nssv660098,nssv677687,nssv664274,nssv680581,nssv671255,nssv658992,nssv660167,nssv682315,nssv689414,nssv677783,nssv679534,nssv682998,nssv662899,nssv663347,nssv665758,nssv693181,nssv663918,nssv686128,nssv700404,nssv681438,nssv676230,nssv685770,nssv668328,nssv673841,nssv663410,nssv670528,nssv653529,nssv681401,nssv681015,nssv692355,nssv675124,nssv693367,nssv655227,nssv677210,nssv689698,nssv692829,nssv691098,nssv670280,nssv684539,nssv676138,nssv702284,nssv668697,nssv652360,nssv686395,nssv673891,nssv676890,nssv656911,nssv667960,nssv687747,nssv656319,nssv668917,nssv684144,nssv688366,nssv666013,nssv652318,nssv691934,nssv676351,nssv689883,nssv663037,nssv688736,nssv652704,nssv680640,nssv692593,nssv678660,nssv661345,nssv653939,nssv664180,nssv671285,nssv685633,nssv681243,nssv665682,nssv687952,nssv670927,nssv655836 M 2026 31 159 MIR4675 dgv71n27 10 20830090 20862612 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466770,nsv466774,nsv466773,nsv466771 M 1557 4 0 "" 1780854384_A,1780862202_A,1780862263_A,NINDS_134 nsv8610 10 20852639 20860864 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20832 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 essv6854 10 20862612 20895478 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR4675 NA18558 esv2785 10 20864423 20864680 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25226 S 1 0 1 Single Asian sample YH "" YH nsv8611 10 20866873 20890946 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19187 S 31 0 1 Samples from several populations that are part of the HapMap project. MIR4675 NA18563 nsv470926 10 20869682 20894602 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544833 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4675 HGDP01404 nsv466775 10 20871602 20894603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542241 S 1557 0 1 MIR4675 1780854455_A dgv72n27 10 20872418 20905163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466778,nsv466776,nsv466777 M 1557 0 3 MIR4675 HGDP00779,HGDP01103,HGDP01187 esv1706250 10 20875191 20875191 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089194 S 2 1 0 "" HuRef dgv230e1 10 20876432 20895478 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18682,essv2369,essv19357,essv7629,essv1576,essv7489,essv24200,essv25050,essv21941,essv19825,essv20538,essv23100 M 271 0 0 MIR4675 NA06985,NA07000,NA07056,NA10847,NA11995,NA12043,NA12056,NA12801,NA18547,NA18561,NA18995,NA18997 dgv231e1 10 20877001 20907987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22716,essv6107,essv4312,essv24013,essv24603,essv22699,essv18001 M 271 0 0 MIR4675 NA12004,NA12005,NA12239,NA12873,NA12875,NA18564,NA18573 dgv132n67 10 20878620 20879865 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825280,nsv825281 M 31 0 4 "" AK16,NA18582,NA18997,NA18999 dgv232e1 10 20880641 20923419 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21934,essv20732,essv19478,essv7459,essv6488 M 271 0 0 MIR4675 NA07357,NA12057,NA12750,NA18633,NA18636 dgv233e1 10 20880641 20949210 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21888,essv19841,essv19741,essv18049 M 271 0 0 MIR4675 NA06991,NA06993,NA10859,NA12234 nsv894935 10 20882037 20902433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502872,nssv1516571,nssv1507912,nssv1504418,nssv1502986,nssv1511714,nssv1501599,nssv1519191,nssv1500345,nssv1505325,nssv1506790,nssv1504249,nssv1507645,nssv1506434,nssv1516343,nssv1501529,nssv1514998,nssv1506571,nssv1518369,nssv1501613,nssv1512803,nssv1514155,nssv1503390,nssv1504921,nssv1504989,nssv1518565,nssv1501061,nssv1501014,nssv1505658,nssv1502270,nssv1517221,nssv1516067 M 6533 0 32 "" SP50027,SP50900,SP50908,SP50915,SP50943,SP50984,SP50989,SP51439,SP51473,SP52052,SP52377,SP52475,SP52868,SP52946,SP53402,SP53821,SP54350,SP54381,SP54406,SP54661,SP54704,SP55039,SP55630,SP55966,SP56108,SP56396,SP56795,SP56862,SP57217,SP57518,SP57741,SP80982 nsv511448 10 20882037 20903251 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626061 S 1 0 1 "" 1 nsv8612 10 20883329 20902911 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19628,nssv16849,nssv18205,nssv16985,nssv17762,nssv18846,nssv18588,nssv19119 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA10863,NA12155,NA12740,NA18564,NA18572,NA18980 dgv21n17 10 20883541 20906334 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437103,nsv437105,nsv437101,nsv437097,nsv437099,nsv437100,nsv437098,nsv437104 M 60 0 8 "" NA07019,NA07029,NA10830,NA10835,NA10847,NA10861,NA10863,NA12801 nsv512151 10 20888580 20901227 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624714 S 1 0 1 "" 1 nsv442571 10 20890118 20893540 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421648 10 20890118 20896007 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5120886,essv5134230,essv5010669,essv5148134,essv5160363,essv5125682,essv5158179,essv5086811,essv5080518,essv5101748,essv5065391,essv5022378,essv5067402,essv5094278,essv5020403,essv5028728,essv5158634,essv5040087,essv5045347,essv5019327,essv5141238,essv5091786,essv5051626,essv5148940,essv5081852,essv5047942,essv5036115,essv5024261,essv5014270,essv5034142,essv5037186,essv5027101,essv5002464,essv5156494,essv5097054,essv5059182,essv5135165,essv5025267,essv5104458,essv5140013,essv5098938,essv5140858,essv5148499,essv5102240,essv5136337,essv5034053,essv5117832,essv5075208,essv5062309,essv5009468,essv5105443,essv5142588,essv5138492,essv5057246,essv5060299,essv5007114,essv5086834,essv5155589,essv5087940,essv5003938,essv5024702,essv5046223,essv5097781,essv5068489,essv5155866,essv5153210,essv5012423,essv5062547,essv5093613,essv5146480,essv5008235,essv5134735,essv5071294,essv5147409,essv5149270,essv5151376,essv5002454,essv5157266,essv5063708,essv5097060,essv5105569,essv5156726,essv5127953,essv5124217,essv5132014,essv5059363,essv5108972,essv5041271,essv5072005,essv5097567,essv5115660,essv5157040,essv5159981,essv5150730,essv5036838,essv5153599,essv5077630,essv5121385,essv5156609,essv5098445,essv5132984,essv5098990,essv5010227,essv5083744,essv5031278,essv5127564,essv5134881,essv5047855,essv5110460,essv5132367,essv5100205,essv5037195,essv5072890,essv5063146,essv5051775,essv5084323,essv5091242,essv5141867,essv5033396,essv5084506,essv5120094,essv5122802,essv5105708,essv5006242,essv5008415,essv5008654,essv5102146,essv5085668,essv5047153,essv5059862,essv5055569,essv5129572,essv5108190,essv5146449,essv5119322,essv5103492,essv5125925,essv5098241,essv5105031,essv5067391,essv5075734,essv5052434,essv5039888,essv5054340,essv5079105,essv5032049,essv5144863,essv5128922,essv5076814,essv5142613,essv5138122,essv5158478,essv5120351,essv5088753,essv5013632,essv5112649,essv5141450,essv5055925,essv5129236,essv5107979,essv5006936,essv5026482,essv5002091,essv5088585,essv5009913,essv5122195,essv5068770,essv5152082,essv5044035,essv5023727,essv5070661,essv5059429,essv5016674,essv5061004,essv5123016,essv5103041,essv5032589,essv5033331,essv5026519,essv5061574,essv5118675,essv5156398,essv5016434,essv5025641,essv5156477,essv5079168,essv5086286,essv5108627,essv5042864,essv5026907,essv5092290,essv5126039,essv5031821,essv5151444,essv5160471,essv5140911,essv5132116,essv5005196,essv5127330,essv5095444,essv5102401,essv5104963,essv5013297,essv5064126,essv5022467,essv5022292,essv5109041,essv5073396,essv5039927,essv5087077,essv5089425,essv5037306,essv5113763,essv5051617,essv5002827,essv5098111,essv5020372,essv5116431,essv5005105,essv5091823,essv5156929,essv5061731,essv5149798,essv5038846,essv5069904,essv5048566,essv5066212,essv5109705,essv5109675,essv5144622,essv5121422,essv5111971,essv5057861,essv5115224,essv5017162,essv5144523,essv5108666,essv5135588 M 1184 0 238 "" NA06985,NA06986,NA06989,NA06991,NA06993,NA06997,NA07000,NA07014,NA07029,NA07031,NA07056,NA07346,NA07349,NA07357,NA10830,NA10835,NA10845,NA10847,NA10850,NA10855,NA10859,NA10861,NA10863,NA11832,NA11839,NA11881,NA11892,NA11917,NA11918,NA11920,NA11931,NA11995,NA12005,NA12043,NA12056,NA12057,NA12144,NA12146,NA12154,NA12155,NA12234,NA12239,NA12248,NA12272,NA12282,NA12283,NA12341,NA12344,NA12348,NA12386,NA12399,NA12400,NA12413,NA12740,NA12748,NA12750,NA12760,NA12767,NA12776,NA12777,NA12801,NA12812,NA12818,NA12828,NA12829,NA12830,NA12832,NA12843,NA12865,NA12873,NA12874,NA12875,NA12890,NA12891,NA17962,NA17976,NA17977,NA17995,NA18101,NA18107,NA18114,NA18118,NA18120,NA18128,NA18131,NA18136,NA18141,NA18159,NA18160,NA18524,NA18526,NA18532,NA18534,NA18544,NA18545,NA18548,NA18550,NA18557,NA18558,NA18559,NA18561,NA18564,NA18566,NA18570,NA18572,NA18573,NA18594,NA18595,NA18605,NA18611,NA18612,NA18613,NA18614,NA18615,NA18631,NA18633,NA18634,NA18636,NA18638,NA18643,NA18682,NA18685,NA18704,NA18747,NA18748,NA18749,NA18946,NA18948,NA18954,NA18959,NA18963,NA18966,NA18979,NA18980,NA18981,NA18995,NA18997,NA19000,NA19002,NA19054,NA19056,NA19059,NA19065,NA19067,NA19075,NA19077,NA19079,NA19083,NA19085,NA19086,NA19088,NA19140,NA19142,NA19468,NA19651,NA19654,NA19675,NA19676,NA19679,NA19681,NA19683,NA19684,NA19700,NA19702,NA19720,NA19721,NA19749,NA19751,NA19756,NA19794,NA19796,NA19908,NA20340,NA20342,NA20356,NA20358,NA20502,NA20505,NA20509,NA20510,NA20518,NA20528,NA20529,NA20530,NA20538,NA20540,NA20541,NA20542,NA20543,NA20582,NA20586,NA20588,NA20756,NA20757,NA20758,NA20761,NA20770,NA20771,NA20772,NA20787,NA20790,NA20796,NA20799,NA20804,NA20805,NA20807,NA20809,NA20811,NA20812,NA20815,NA20818,NA20819,NA20861,NA20872,NA20875,NA20881,NA20882,NA20887,NA20909,NA20910,NA20911,NA21104,NA21108,NA21115,NA21118,NA21125,NA21360,NA21361,NA21363,NA21385,NA21386,NA21526,NA21527,NA21573,NA21577,NA21615,NA21719,NA21826 nsv825282 10 20890363 20897584 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429991,nssv1432243,nssv1436024,nssv1431485,nssv1434571,nssv1421920,nssv1440506,nssv1425158,nssv1425030,nssv1433828 M 31 0 10 "" AK14,AK18,AK2,AK20,NA18526,NA18547,NA18564,NA18566,NA18570,NA18997 nsv514547 10 20890562 20894008 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628043 S 1414 0 1 "" esv28930 10 20890579 20897455 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21115 S 451 0 7 "" NA06985,NA11931,NA11995,NA12004,NA12239,NA12776,NA12828 nsv466779 10 20890630 20892021 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542245 S 1557 0 1 "" 1780862306_A dgv73n27 10 20890630 20894603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466813,nsv466825,nsv466828,nsv466784,nsv466829,nsv466792,nsv466790,nsv466806,nsv466815,nsv466795,nsv466803,nsv466811,nsv466788,nsv466785,nsv466793,nsv466797,nsv466786,nsv466801,nsv466799,nsv466804,nsv466820,nsv466809,nsv466819,nsv466802,nsv466791,nsv466789,nsv466824,nsv466822,nsv466817,nsv466818,nsv466781,nsv466796,nsv466787,nsv466821,nsv466814,nsv466798,nsv466782,nsv466823,nsv466812,nsv466800,nsv466808,nsv466807,nsv466780,nsv466810,nsv466826 M 1557 0 45 "" 1780854184_A,1780854302_A,1780854436_A,1780854594_A,1780862014_A,1780862108_A,1780862175_A,1780862373_A,1780862408_A,1780862517_A,1780862518_A,1780862539_A,1780862598_A,1782681142_A,1782681195_A,1798860072_A,1798860084_A,1798860280_A,1798860565_A,HGDP00003,HGDP00007,HGDP00033,HGDP00120,HGDP00131,HGDP00251,HGDP00524,HGDP00560,HGDP00575,HGDP00581,HGDP00583,HGDP00594,HGDP00613,HGDP00677,HGDP00739,HGDP00769,HGDP01167,HGDP01223,HGDP01327,HGDP01369,NINDS_127,NINDS_159,NINDS_219,NINDS_239,NINDS_51,NINDS_86 nsv818751 10 20890630 20894603 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417351,nssv1417981,nssv1418386,nssv1415982,nssv1415587,nssv1415776,nssv1418089,nssv1416259,nssv1415980,nssv1417773,nssv1418088,nssv1415774,nssv1415586,nssv1415775,nssv1417772,nssv1417049,nssv1417051,nssv1418384,nssv1417724,nssv1418385,nssv1415981,nssv1417993,nssv1416258,nssv1418004 M 112 1 23 "" NA06985,NA06991,NA06993,NA07000,NA07029,NA10830,NA10847,NA10859,NA10863,NA11881,NA12056,NA12057,NA12146,NA12154,NA12234,NA12239,NA12740,NA12750,NA12751,NA12865,NA12874,NA12875,NA18612,NA19003 nsv466830 10 20890630 20905163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542292 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01171 nsv466831 10 20890630 20917787 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542293 S 1557 0 1 "" NINDS_84 esv33297 10 20890924 20894590 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101542,essv93893,essv95746,essv99732,essv92530,essv99228,essv99483,essv94230 M 51 0 8 "" 21603,21634,21841,22217,22233,22275,22335,22394 dgv234e1 10 20891019 20895478 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18470,essv2757,essv18869,essv18809,essv5080,essv21577,essv7506,essv24201,essv5652,essv21471,essv17682,essv19141,essv15979,essv18791 M 271 0 0 "" NA07029,NA10830,NA10835,NA11832,NA12144,NA12146,NA12248,NA12812,NA12891,NA18526,NA18532,NA18570,NA19000,NA19142 dgv235e1 10 20891019 20902433 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20808,essv17406,essv6408,essv5701,essv4534,essv1295,essv7060,essv6806,essv20490 M 271 0 0 "" NA10855,NA12760,NA12874,NA18545,NA18550,NA18566,NA18594,NA18612,NA18980 dgv236e1 10 20891019 20907987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22623,essv21750,essv2120,essv23714,essv24453,essv3317,essv3625 M 271 0 0 "" NA10861,NA12154,NA12740,NA12865,NA18948,NA18959,NA18966 dgv237e1 10 20891019 20917501 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv950,essv21596,essv20972,essv746 M 271 0 0 "" NA10863,NA12155,NA18981,NA19003 essv19366 10 20891019 20932759 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07019 nsv438166 10 20891214 20895478 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470253,nssv470248,nssv470261,nssv470255,nssv470256,nssv470251,nssv470260,nssv470257,nssv470264,nssv470250,nssv470265,nssv470254,nssv470246,nssv470247,nssv470258,nssv470249,nssv470266,nssv470259,nssv470262 M 269 0 18 Samples from several populations that are part of the HapMap project. "" NA07000,NA07019,NA07029,NA07056,NA10830,NA10835,NA10847,NA10861,NA10863,NA11995,NA12154,NA12234,NA12239,NA12248,NA12801,NA12812,NA19140,NA19142 dgv22n17 10 20891214 20906334 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437660,nsv437106 M 60 0 2 "" NA10859,NA19142 nsv466832 10 20892021 20894603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542294 S 1557 0 1 "" 1780854103_A nsv831805 10 20927963 21027163 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448278 S 95 1 0 "" nsv6021 10 20955488 20971140 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8484 S 9 0 1 "" NA12156 nsv519029 10 20971045 20985819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696498 S 2026 0 1 "" nsv825283 10 21156826 21158024 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431487 S 31 0 1 NEBL AK18 esv2520573 10 21232187 21233134 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335937 S 1 1 0 NEBL NA18507 esv273608 10 21232797 21233145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580874,essv2579491 M 7 2 0 Samples from several populations that are part of the HapMap project. NEBL NA19238,NA19240 esv269497 10 21232806 21233142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543850,essv2545565,essv2523177,essv2521803,essv2550727,essv2535172,essv2576357,essv2530620,essv2561740,essv2539948,essv2520853,essv2556879,essv2552551,essv2532093,essv2562624,essv2569242,essv2550213,essv2527380,essv2561494,essv2544771,essv2542935,essv2540538,essv2534813,essv2531261,essv2567402,essv2541833,essv2553324,essv2542152,essv2569003,essv2527984,essv2539389,essv2573702,essv2573281,essv2529559,essv2575399,essv2575015,essv2538713,essv2560656,essv2523996,essv2574773,essv2530432,essv2560449,essv2571299,essv2545915,essv2574385,essv2551230,essv2535999 M 157 47 0 Samples from several populations that are part of the HapMap project. NEBL NA06986,NA11992,NA12003,NA12004,NA12144,NA12155,NA12249,NA12814,NA12873,NA12874,NA18489,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18522,NA18523,NA18526,NA18550,NA18552,NA18561,NA18573,NA18582,NA18592,NA18605,NA18856,NA18861,NA18907,NA18912,NA18964,NA18969,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19138,NA19141,NA19190,NA19238,NA19239,NA19240,NA19257 nsv831806 10 21413644 21559356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448279 S 95 1 0 C10orf113,NEBL nsv507543 10 21446320 21452320 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619070,nssv617800,nssv620502 M 4 3 0 NEBL CHM,NA10860,NA15510 nsv508573 10 21497011 21565652 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622534 S 4 0 1 NEBL NA18994 nsv507544 10 21548890 21554890 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619074 S 4 1 0 "" NA10860 nsv831807 10 21549191 21728049 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448280 S 95 1 0 "" esv2012764 10 21556440 21556859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942192 S 1 0 1 "" NA18507 nsv24958 10 21562692 21562808 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43536 M 24 "" nsv24442 10 21570224 21574104 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43020 M 24 "" esv1218372 10 21587538 21587712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044289 S 2 0 1 "" HuRef esv271321 10 21607597 21612968 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513567 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 esv1732442 10 21654946 21655107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4316938 S 2 0 1 "" HuRef esv1686486 10 21655113 21655347 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790258 S 2 0 1 "" HuRef esv273902 10 21728220 21728352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581907,essv2582995 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv133n67 10 21779533 21914340 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825285,nsv825284 M 31 2 0 C10orf114,C10orf140,MIR1915,MLLT10 NA18969,NA18973 dgv134n67 10 21797790 21878896 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825288,nsv825286 M 31 2 0 C10orf114,C10orf140,MIR1915,MLLT10 NA18542,NA18968 nsv825289 10 21802512 21885881 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435267 S 31 0 1 C10orf114,C10orf140,MIR1915,MLLT10 NA18942 nsv527055 10 21804025 21862862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703431 S 2026 0 1 C10orf114,C10orf140,MIR1915 dgv135n67 10 21817863 21870952 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825291,nsv825290 M 31 2 0 C10orf114,C10orf140,MIR1915,MLLT10 AK10,AK6 dgv622n71 10 21821595 21870110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894938,nsv894936,nsv894937,nsv894939 M 6533 0 5 C10orf114,C10orf140,MIR1915,MLLT10 SP54725,SP54956,SP54988,SP55021,SP56223 nsv517469 10 21823640 21862862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677688,nssv689498,nssv684817,nssv664604,nssv658409,nssv652113 M 2026 0 6 C10orf114,C10orf140,MIR1915 dgv623n71 10 21836087 21871221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894940,nsv894942,nsv894944,nsv894945,nsv894946,nsv894941,nsv894943 M 6533 0 19 C10orf140,MLLT10 SP51109,SP54042,SP54043,SP54225,SP54591,SP54593,SP54621,SP54657,SP54672,SP54680,SP54684,SP54776,SP54937,SP54967,SP55019,SP55056,SP55318,SP57469,SP81010 esv22595 10 21897169 21907967 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12099 S 451 1 0 MLLT10 NA19114 nsv894947 10 21909615 22157919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600417 S 6533 0 1 DNAJC1,MLLT10 IS41881 esv2609802 10 22054228 22055733 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286771 S 1 0 1 MLLT10 NA18507 esv2511732 10 22182351 22183863 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288164 S 1 0 1 DNAJC1 NA18507 nsv507545 10 22184582 22190582 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620506,nssv622983,nssv619083 M 4 3 0 DNAJC1 NA10860,NA15510,NA18994 nsv831808 10 22227856 22397820 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448281 S 95 1 0 DNAJC1 esv273070 10 22239451 22239536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581298 S 7 1 0 Samples from several populations that are part of the HapMap project. DNAJC1 NA19240 nsv894948 10 22243398 22295103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500686 S 6533 0 1 DNAJC1 SP50649 nsv894949 10 22281994 22304564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514450 S 6533 0 1 DNAJC1 SP56004 dgv136n67 10 22600353 22682206 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825292,nsv825293 M 31 2 0 BMI1,COMMD3,COMMD3-BMI1,SPAG6 NA18969,NA18973 dgv137n67 10 22630633 22684916 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825296,nsv825299,nsv825297,nsv825294,nsv825295 M 31 5 0 BMI1,COMMD3,COMMD3-BMI1,SPAG6 AK10,AK6,NA18542,NA18949,NA18968 dgv624n71 10 22631836 22679909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894955,nsv894950,nsv894958,nsv894956,nsv894957 M 6533 0 12 BMI1,COMMD3,COMMD3-BMI1,SPAG6 SP51109,SP54042,SP54043,SP54684,SP54725,SP54956,SP54988,SP55019,SP55021,SP56047,SP56223,SP57469 dgv625n71 10 22634771 22661966 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894954,nsv894953,nsv894952,nsv894951 M 6533 0 15 BMI1,COMMD3,COMMD3-BMI1 SP53969,SP54002,SP54225,SP54381,SP54591,SP54593,SP54750,SP54935,SP54937,SP54967,SP55277,SP55318,SP56084,SP57941,SP80992 nsv894959 10 22642019 22659310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511739 S 6533 0 1 BMI1,COMMD3,COMMD3-BMI1 SP55056 esv27808 10 22649129 22657572 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16014 S 451 2 0 BMI1,COMMD3,COMMD3-BMI1 NA06985,NA12044 nsv825300 10 22659193 22660598 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434572 S 31 1 0 BMI1,COMMD3-BMI1 NA18570 nsv6032 10 22724755 22759289 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv775 S 9 1 0 SPAG6 NA19240 esv272641 10 22907558 22907643 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581522 S 7 1 0 Samples from several populations that are part of the HapMap project. PIP4K2A NA12878 nsv831809 10 22958107 23109682 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448282,nssv1448285,nssv1448283 M 95 3 0 PIP4K2A esv28057 10 23055575 23056688 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15894 S 451 0 1 "" NA18861 esv268488 10 23077970 23078333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510562,essv2494124,essv2504265,essv2509699,essv2496213,essv2494666,essv2501030,essv2505979,essv2493953,essv2502076 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18505,NA18508,NA18511,NA18519,NA18856,NA18861,NA18871,NA19257 dgv626n71 10 23089145 23168481 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894960,nsv894964,nsv894962,nsv894961,nsv894963 M 6533 12 0 "" MS10626,MS10843,MS11663,MS16859,MS18933,MS21515,MS24867,SP50552,SP51082,SP52593,SP56845,SP81578 nsv466833 10 23090689 23150803 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542295 S 1557 0 1 "" 1780854255_A nsv894965 10 23111134 23153847 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552599 S 6533 1 0 "" MS19517 nsv894966 10 23130541 23242528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555306 S 6533 0 1 "" MS21258 esv275133 10 23138098 23140293 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585312 S 1250 0 1 "" nsv25129 10 23440721 23440774 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43707 M 24 MSRB2 esv987760 10 23440743 23440796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573397 S 3 0 1 MSRB2 HuRef esv1381341 10 23440800 23440854 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293163 S 2 0 1 MSRB2 HuRef nsv825301 10 23480610 23545852 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439045 S 31 1 0 PTF1A NA18973 nsv831810 10 23485653 23645276 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448287,nssv1448286 M 95 2 0 PTF1A nsv825302 10 23497028 23537335 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441269 S 31 1 0 PTF1A NA18969 esv2471600 10 23510367 23511876 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201606 S 1 0 1 "" NA18507 nsv6043 10 23663470 23697256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8489 S 9 1 0 C10orf67 NA12156 esv2337865 10 23675327 23675827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568662 S 1 0 1 "" NA18507 esv21934 10 23675453 23676440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20282 S 451 0 2 "" NA11993,NA12044 esv2503774 10 23675499 23675627 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235647 S 1 0 1 "" NA18507 dgv138n67 10 23729693 23730783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825303,nsv825304 M 31 0 2 "" NA18592,NA18999 nsv825305 10 23738626 23780925 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441270 S 31 1 0 OTUD1 NA18969 esv24469 10 23739293 23748464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10624 S 451 0 1 "" NA18861 esv1300014 10 23758535 23758535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717212 S 2 1 0 "" HuRef esv24369 10 23761453 23761943 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18855 S 451 0 1 "" NA15510 nsv831811 10 23774332 23953376 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448288,nssv1448289,nssv1448290 M 95 0 3 "" esv271886 10 23815661 23816011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519192,essv2516602,essv2515562,essv2517991,essv2514453,essv2513736 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA12814,NA12815,NA12872,NA12874 esv1696632 10 23837043 23837043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679941 S 2 1 0 "" HuRef nsv466835 10 23841561 23909181 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542296 S 1557 1 0 "" 1780862487_A esv1004911 10 23881144 23882584 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565749 S 3 1 0 "" HuRef esv268782 10 23882053 23882138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517141 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv271455 10 23909069 23909371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496240,essv2494942,essv2507158,essv2513314,essv2498679 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18520,NA18870,NA18907,NA19138 nsv894967 10 23978797 24043573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560532 S 6533 0 1 KIAA1217 MS24528 nsv894968 10 24059331 24139185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545994 S 6533 0 1 KIAA1217 MS17093 nsv6054 10 24094677 24126978 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6315 S 9 1 0 KIAA1217 NA12156 esv2531113 10 24118452 24120092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246013 S 1 0 1 KIAA1217 NA18507 nsv825306 10 24140054 24140619 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436845 S 31 0 1 KIAA1217 NA18542 nsv6065 10 24190015 24222059 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5270 S 9 1 0 KIAA1217 NA19129 dgv139n67 10 24200545 24206397 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825308,nsv825307 M 31 3 0 KIAA1217 AK14,NA18592,NA18973 nsv442172 10 24201315 24206054 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIAA1217 nsv6077 10 24280490 24290152 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8504 S 9 0 1 KIAA1217 NA12156 nsv6088 10 24311666 24344880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv786 S 9 1 0 KIAA1217 NA19240 esv273968 10 24409744 24410104 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580632,essv2579749 M 7 2 0 Samples from several populations that are part of the HapMap project. KIAA1217 NA19238,NA19240 esv268602 10 24409746 24410107 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496605,essv2494219,essv2509890,essv2505806,essv2507276,essv2494060,essv2498971,essv2509529,essv2497676,essv2511973,essv2501841,essv2498144 M 157 12 0 Samples from several populations that are part of the HapMap project. KIAA1217 NA18486,NA18502,NA18508,NA18861,NA18870,NA18871,NA19114,NA19129,NA19147,NA19238,NA19239,NA19240 nsv24699 10 24409794 24413848 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43277 M 24 KIAA1217 nsv437661 10 24416522 24425378 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467542 S 60 0 1 Samples from several populations that are part of the HapMap project. KIAA1217 NA19173 nsv512152 10 24416800 24418813 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624715 S 1 0 1 KIAA1217 1 nsv442572 10 24417680 24419045 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIAA1217 nsv25425 10 24579549 24583791 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44003 M 24 KIAA1217,PRINS nsv520378 10 24594202 24722946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697381 S 2026 0 1 KIAA1217,MIR603 nsv517235 10 24628738 24633082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693274,nssv658553,nssv692417,nssv682281,nssv661164,nssv669786,nssv663638,nssv693867,nssv665552,nssv693622,nssv674651,nssv670461,nssv652855,nssv659914,nssv658375,nssv689448,nssv673154,nssv665258,nssv653234,nssv660115,nssv671582,nssv688543,nssv679609,nssv673555,nssv674740,nssv655129,nssv672364,nssv675360,nssv685156,nssv654944,nssv675302,nssv657829,nssv689565,nssv683179,nssv657653,nssv692842,nssv684793,nssv668300,nssv660206,nssv672755,nssv682586,nssv674191,nssv680078,nssv690121,nssv664545,nssv684818,nssv679291,nssv691520,nssv692742,nssv693051,nssv689372,nssv666640,nssv692830,nssv669545,nssv683460,nssv665947,nssv677649,nssv666247,nssv652650,nssv666742,nssv661379,nssv667417,nssv683271,nssv682126,nssv686176,nssv679771,nssv656195,nssv692464,nssv673981,nssv654090,nssv658316,nssv675689,nssv704251,nssv674327,nssv661061,nssv690205,nssv662071,nssv674523,nssv691150,nssv678583,nssv682164,nssv682693,nssv659702,nssv667614,nssv662900,nssv657337,nssv655659,nssv657680,nssv665377,nssv663809,nssv652361,nssv687924,nssv689699,nssv679708,nssv656943,nssv674766,nssv663661,nssv666117,nssv692682,nssv663791,nssv652922,nssv677806,nssv653252,nssv686670,nssv676677,nssv661822,nssv678162,nssv666812,nssv667021 M 2026 0 109 KIAA1217 nsv466836 10 24761568 24812730 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542297 S 1557 0 1 KIAA1217 1780862484_A esv2540928 10 24772848 24774281 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199525 S 1 0 1 KIAA1217 NA18507 nsv7200 10 24821446 24850830 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3868 S 9 0 0 KIAA1217 NA12878 nsv819511 10 24847682 24850745 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419504 S 2 1 0 KIAA1217 AK1 esv2424736 10 24886278 24887191 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203893 S 1 1 0 "" NA18507 esv22956 10 24887826 24888486 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10763 S 451 0 1 "" NA18858 nsv437662 10 24888155 24892371 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467543 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 esv1008113 10 24899710 24906008 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563622 S 3 1 0 "" HuRef nsv6099 10 24926597 24956736 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5278 S 9 1 0 ARHGAP21 NA19129 esv2181761 10 25075030 25075461 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975247 S 1 0 1 "" NA18507 esv3455 10 25075145 25075363 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25896 S 1 0 1 Single Asian sample YH "" YH nsv24606 10 25075193 25075288 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43184 M 24 "" nsv512153 10 25137530 25140788 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624716 S 1 0 1 "" 1 esv2575323 10 25137586 25139251 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203483 S 1 0 1 "" NA18507 esv2344215 10 25137903 25138631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4871131 S 1 0 1 "" NA18507 esv3916 10 25137999 25138488 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26357 S 1 0 1 Single Asian sample YH "" YH esv1010965 10 25138089 25138426 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581537 S 3 0 1 "" HuRef esv7533 10 25138092 25138423 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29974 S 1 0 1 "" SJK nsv24532 10 25138096 25138433 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43110 M 24 "" nsv825310 10 25155681 25156704 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436846 S 31 0 1 "" NA18542 nsv819709 10 25177937 25178608 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419047 S 2 1 0 PRTFDC1 AK1 nsv510214 10 25221106 25227106 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624034 S 4 0 1 PRTFDC1 NA18994 esv1965232 10 25317429 25317852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591649 S 1 0 1 ENKUR NA18507 nsv894969 10 25385726 25435585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500851 S 6533 0 1 "" SP51016 dgv627n71 10 25425864 25562286 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894970,nsv894971 M 6533 2 0 GPR158,LOC100128811 MS14728,MS23054 esv271437 10 25527893 25528248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510292,essv2503241,essv2495479,essv2501716,essv2510624,essv2494278,essv2493300,essv2504191,essv2509682,essv2496522,essv2503283,essv2497269,essv2494561,essv2499936,essv2506347,essv2512642,essv2497925,essv2493019,essv2500562,essv2502675,essv2507006,essv2506736,essv2503907 M 157 23 0 Samples from several populations that are part of the HapMap project. GPR158 NA07037,NA10851,NA11881,NA11919,NA12144,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18542,NA18545,NA18550,NA18562,NA18566,NA18577,NA18945,NA18951,NA18956,NA18965,NA19102,NA19108 esv1180990 10 25667519 25667519 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604603 S 2 1 0 GPR158 HuRef esv2492571 10 25677597 25679390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330736 S 1 0 1 GPR158 NA18507 esv1997102 10 25678099 25679033 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739707 S 1 0 1 GPR158 NA18507 esv26962 10 25678200 25678840 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19471 S 451 0 2 GPR158 NA18861,NA18907 nsv25401 10 25678293 25678839 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43979 M 24 GPR158 nsv509345 10 25744712 25764286 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618080,nssv619611 M 4 2 0 GPR158 CHM,NA10860 esv268877 10 25747670 25747755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514520,essv2519276,essv2514162,essv2518829,essv2515331,essv2514913,essv2516351,essv2515566,essv2517947,essv2514440,essv2517566,essv2519135,essv2519365 M 157 13 0 Samples from several populations that are part of the HapMap project. GPR158 NA07346,NA11840,NA11894,NA12043,NA12045,NA12249,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA19141 esv273379 10 25747670 25747755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581490 S 7 1 0 Samples from several populations that are part of the HapMap project. GPR158 NA12878 nsv51 10 25766227 25772423 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv51 S 1 1 0 GPR158 NA15510 nsv6110 10 25766227 25772423 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11236 S 9 1 0 GPR158 NA15510 nsv894972 10 25890004 25957915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553758 S 6533 0 1 GPR158 MS20286 esv24070 10 25945120 25945891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19436 S 451 0 1 "" NA18511 esv2507463 10 25996953 25997793 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368008 S 1 1 0 "" NA18507 esv273405 10 25997288 25997634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580968,essv2579063,essv2579696 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271460 10 25997300 25997636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557895,essv2576070,essv2542481,essv2536566,essv2523173,essv2577376,essv2548225,essv2521592,essv2525465,essv2550378,essv2535059,essv2552094,essv2547379,essv2559638,essv2565290,essv2564035,essv2562108,essv2547090,essv2521021,essv2556832,essv2552572,essv2551787,essv2532438,essv2562692,essv2569609,essv2550112,essv2558783,essv2536976,essv2538953,essv2569741,essv2561591,essv2562964,essv2541249,essv2560107,essv2567680,essv2567546,essv2566746,essv2542198,essv2551166,essv2543409,essv2556312,essv2527956,essv2562422,essv2539384,essv2534158,essv2573579,essv2529713,essv2575223,essv2560690,essv2524258,essv2574571,essv2530374,essv2545034,essv2560407,essv2548125,essv2549611,essv2571172,essv2551462,essv2536050,essv2532935,essv2547974,essv2524802,essv2563301 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA07357,NA10847,NA10851,NA11830,NA11919,NA11920,NA12004,NA12043,NA12045,NA12144,NA12156,NA12234,NA12249,NA12489,NA12717,NA12776,NA12812,NA12828,NA12874,NA12892,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18523,NA18532,NA18545,NA18570,NA18577,NA18582,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18964,NA19093,NA19102,NA19116,NA19129,NA19138,NA19141,NA19172,NA19190,NA19210,NA19225,NA19238,NA19257 nsv521776 10 26006375 26006736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694543 S 2026 0 1 "" nsv894973 10 26060430 26083077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503111 S 6533 0 1 "" SP51486 nsv894974 10 26068536 26362789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594833 S 6533 1 0 MYO3A IS40038 esv1743090 10 26085410 26085410 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016812 S 2 1 0 "" HuRef esv25199 10 26180000 26183366 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11326 S 451 0 1 "" NA19257 esv22456 10 26220290 26223275 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19878 S 451 1 0 "" NA19114 esv268255 10 26265919 26266189 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511010,essv2495471,essv2511387,essv2511162,essv2500215,essv2495393,essv2508867,essv2500300,essv2496816,essv2494375,essv2509804,essv2507073,essv2513399,essv2509206,essv2512184,essv2501825,essv2503631 M 157 17 0 Samples from several populations that are part of the HapMap project. MYO3A NA06986,NA11831,NA11919,NA11920,NA11931,NA12006,NA12287,NA12878,NA12891,NA18498,NA18502,NA18508,NA18870,NA18907,NA18909,NA19238,NA19239 esv273872 10 26265924 26266220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581916,essv2582753,essv2584329,essv2584595 M 7 4 0 Samples from several populations that are part of the HapMap project. MYO3A NA12878,NA12891,NA19238,NA19239 nsv894975 10 26383362 27054473 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594834 S 6533 1 0 APBB1IP,GAD2,LINC00264,LOC731789,MYO3A,PDSS1 IS40038 esv29775 10 26385500 26401309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20503,esv13963 M 451 0 8 MYO3A NA07045,NA11931,NA11995,NA12239,NA12287,NA12414,NA12878,NA18916 esv2568953 10 26394130 26395626 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282828 S 1 0 1 MYO3A NA18507 dgv5e194 10 26394581 26395268 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1988727,esv2215082 M 1 0 1 MYO3A NA18507 esv3713 10 26394672 26395133 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26154 S 1 0 1 Single Asian sample YH MYO3A YH nsv819180 10 26529891 26531307 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419256 S 2 0 1 MYO3A AK1 esv27961 10 26636413 26637676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10455 S 451 0 1 "" NA19114 esv2379788 10 26648054 26648526 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981131 S 1 0 1 "" NA18507 esv27095 10 26648235 26651066 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21078 S 451 0 1 "" NA18517 nsv6121 10 26723708 26737313 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9933 S 9 0 1 "" NA18507 esv2431236 10 26724123 26730609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268208 S 1 0 1 "" NA18507 esv2252088 10 26724398 26729980 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598632 S 1 0 1 "" NA18507 esv2457858 10 26724421 26730176 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385016 S 1 0 1 "" NA18507 nsv514548 10 26725068 26728758 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628044 S 1414 0 1 "" esv26002 10 26725121 26729767 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15267 S 451 0 2 "" NA18517,NA18861 nsv442173 10 26726161 26729771 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421838 10 26727757 26729773 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013365,essv5025523,essv5130381,essv5124314,essv5045923,essv5023602,essv5128411,essv5122974,essv5103678,essv5144897,essv5110089,essv5122022,essv5031004,essv5037985,essv5128360,essv5024477,essv5028357,essv5018157,essv5160177,essv5047163,essv5111273,essv5038554,essv5147191,essv5129887,essv5155562,essv5136586,essv5095937,essv5154817,essv5012615,essv5049435,essv5064532,essv5008203,essv5134658,essv5121192,essv5129448,essv5014165,essv5139138,essv5033343,essv5006154,essv5148963,essv5091528,essv5059718,essv5090877,essv5134971,essv5114969,essv5021081,essv5094137,essv5114769,essv5072141,essv5080986,essv5059102,essv5121278,essv5093376,essv5158357,essv5015790,essv5005440,essv5064589,essv5010899,essv5099892,essv5136182,essv5113733,essv5020131,essv5041577,essv5006505,essv5088986,essv5106396,essv5113374,essv5122766 M 1184 0 68 "" NA18506,NA18507,NA18515,NA18517,NA18518,NA18520,NA18861,NA18923,NA18925,NA19028,NA19116,NA19117,NA19120,NA19140,NA19150,NA19151,NA19175,NA19176,NA19178,NA19181,NA19183,NA19185,NA19192,NA19193,NA19194,NA19202,NA19223,NA19247,NA19249,NA19315,NA19347,NA19379,NA19404,NA19436,NA19439,NA19446,NA19456,NA19708,NA19711,NA19789,NA19909,NA20276,NA20277,NA20289,NA20290,NA20294,NA20295,NA20300,NA20334,NA20336,NA20337,NA20341,NA21356,NA21360,NA21453,NA21455,NA21521,NA21582,NA21599,NA21608,NA21615,NA21634,NA21636,NA21689,NA21717,NA21718,NA21784,NA21826 esv2477507 10 26807098 26808751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240079 S 1 0 1 APBB1IP NA18507 esv2129666 10 26807777 26808452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875180 S 1 0 1 APBB1IP NA18507 esv4688 10 26807794 26808456 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27129 S 1 0 1 Single Asian sample YH APBB1IP YH esv9007 10 26807920 26808273 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31448 S 1 0 1 APBB1IP SJK nsv24111 10 26807948 26808253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42689 M 24 APBB1IP nsv520311 10 26863051 26863947 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697340 S 2026 1 0 APBB1IP nsv523178 10 26863051 26868895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698891 S 2026 0 1 APBB1IP esv272659 10 26892917 26893288 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580758,essv2579103,essv2579411 M 7 3 0 Samples from several populations that are part of the HapMap project. APBB1IP NA19238,NA19239,NA19240 esv269930 10 26892951 26893293 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565697,essv2546614,essv2521049,essv2526177,essv2536761,essv2544171,essv2570827,essv2556675,essv2577542,essv2548265,essv2550844,essv2550304,essv2535250,essv2554128,essv2544251,essv2547151,essv2558508,essv2564320,essv2577734,essv2553708,essv2559610,essv2520227,essv2528407,essv2547054,essv2562806,essv2523596,essv2541219,essv2538318,essv2540342,essv2524355,essv2569901,essv2572369,essv2559400,essv2567054,essv2566580,essv2529849,essv2522645,essv2576925,essv2536129,essv2538095,essv2548881,essv2533310,essv2563355,essv2557980 M 157 44 0 Samples from several populations that are part of the HapMap project. APBB1IP NA06986,NA07000,NA07037,NA07051,NA10847,NA10851,NA11829,NA11881,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA12043,NA12045,NA12155,NA12234,NA12249,NA12287,NA12414,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12815,NA12891,NA12892,NA18532,NA18537,NA18545,NA18547,NA18552,NA18555,NA18593,NA18609,NA18638,NA18947,NA18948,NA18949,NA18960,NA18970 nsv466837 10 26898866 26906426 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542298 S 1557 0 1 "" 1780862093_A nsv894976 10 26901235 26965728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599027 S 6533 0 1 LINC00264 IS40854 esv3221 10 26901970 26955522 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25662 S 1 0 1 Single Asian sample YH LINC00264 YH esv1934001 10 26911982 26914153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852053 S 1 0 1 "" NA18507 nsv894977 10 26916278 26999208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573124 S 6533 0 1 LINC00264,LOC731789 IS33240 nsv436046 10 26919082 26971359 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466568 S 2 1 0 LINC00264 NA15510 nsv516275 10 26936438 27008177 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670462,nssv690929,nssv703991,nssv667261 M 2026 1 3 LOC731789 esv991084 10 27038468 27041985 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565511 S 3 0 1 PDSS1 HuRef dgv140n67 10 27038928 27042012 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825312,nsv825314,nsv825311,nsv825313 M 31 0 22 PDSS1 AK10,AK14,AK16,AK18,AK2,AK20,AK4,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 nsv821589 10 27038928 27042012 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420854 S 1 0 1 PDSS1 NA10851 nsv24807 10 27038983 27042120 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43385 M 24 PDSS1 esv26715 10 27039121 27041860 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16803 S 451 11 12 PDSS1 NA06985,NA07037,NA07045,NA11894,NA11931,NA12004,NA12006,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18508,NA18511,NA18858,NA19108,NA19114,NA19147,NA19190,NA19240 nsv819742 10 27039127 27042309 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419517 S 2 1 0 PDSS1 AK1 nsv825315 10 27039981 27041715 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423597,nssv1437616 M 31 0 2 PDSS1 NA18949,NA18999 nsv825316 10 27041467 27042012 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431489 S 31 0 1 PDSS1 AK18 esv270960 10 27080326 27080683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508015,essv2505516,essv2512226,essv2502873,essv2506135,essv2494620,essv2511303,essv2507696,essv2508409,essv2501559,essv2512929,essv2500995,essv2501451,essv2506421,essv2496940 M 157 15 0 Samples from several populations that are part of the HapMap project. ABI1 NA12003,NA12154,NA12155,NA12156,NA18523,NA18550,NA18570,NA18576,NA18582,NA18608,NA18609,NA18856,NA19093,NA19108,NA19190 nsv831812 10 27101512 27274273 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448291 S 95 1 0 ABI1,LINC00202 nsv6132 10 27106087 27115528 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1883 S 9 0 1 ABI1 NA18555 esv26420 10 27157703 27175754 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11591 S 451 2 0 ABI1 NA19108,NA19257 nsv6143 10 27199038 27233033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3869,nssv9779,nssv5284,nssv6333,nssv797,nssv10716,nssv1887 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 dgv238e1 10 27200938 27269999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19744,esv1212,esv1178,essv24336 M 271 0 0 LINC00202 NA10859,NA11882 nsv509347 10 27207704 27243898 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623536,nssv619616,nssv620974 M 4 3 0 "" NA10860,NA15510,NA18994 nsv510988 10 27207704 27337046 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618610 S 4 0 0 ANKRD26,LINC00202 CHM esv1009170 10 27222547 27223004 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564781 S 3 1 0 "" HuRef nsv894978 10 27225292 27279826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577306 S 6533 0 1 LINC00202 IS34407 dgv239e1 10 27232285 27269999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21631,essv20467,essv22725,essv21586,essv19120,essv23152,essv20839,essv17856,essv19883,essv25113,essv18492,essv24454,essv19832,essv19308 M 271 0 0 LINC00202 NA07022,NA07348,NA10831,NA10847,NA10856,NA10857,NA11829,NA11881,NA12044,NA12146,NA12156,NA12239,NA12249,NA12865 esv2238286 10 27245778 27246207 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723924 S 1 0 1 "" NA18507 nsv6154 10 27252512 27266026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8520 S 9 1 0 LINC00202 NA12156 dgv240e1 10 27262326 27269933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20744,essv23751,essv19380 M 271 0 0 LINC00202 NA07019,NA07357,NA11994 nsv512154 10 27262636 27267313 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624717 S 1 0 1 LINC00202 1 esv22014 10 27264678 27269584 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16058,esv12865 M 451 3 1 LINC00202 NA12044,NA12239,NA12287,NA15510 nsv820780 10 27264678 27269584 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420855 S 1 1 0 LINC00202 NA10851 nsv513742 10 27264684 27269235 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626994 S 1 1 0 LINC00202 1 essv22257 10 27265653 27268445 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LINC00202 NA11992 esv2750887 10 27265653 27268445 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987271,essv6988948 M 771 1 0 LINC00202 SPC_6 dgv241e1 10 27265653 27269933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20719,essv25069,essv17677 M 271 0 0 LINC00202 NA10835,NA12752,NA12892 esv2750888 10 27265653 27281786 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988848,essv6987681 M 771 1 0 LINC00202 SPC_18 nsv442174 10 27265911 27268479 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LINC00202 esv270263 10 27267964 27273177 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518469 S 157 1 0 Samples from several populations that are part of the HapMap project. LINC00202 NA12287 nsv894979 10 27365125 27415417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514451 S 6533 0 1 ANKRD26 SP56004 esv1628755 10 27435716 27435774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731790 S 2 0 1 "" HuRef esv2422253 10 27471372 27615376 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161310 S 181 0 1 ACBD5,LOC387646,MASTL,YME1L1 ND01701 nsv25396 10 27505035 27507330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43974 M 24 MASTL nsv894980 10 27517291 27566537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567249 S 6533 1 0 ACBD5 IS31054 nsv8614 10 27544493 27868412 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20713 S 31 0 1 Samples from several populations that are part of the HapMap project. ACBD5,LOC387646,PTCHD3,RAB18 NA18504 esv1171615 10 27572048 27572048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059962 S 2 1 0 "" HuRef nsv894981 10 27621851 27682972 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576101 S 6533 1 0 "" IS33871 nsv509348 10 27628782 27672499 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623567,nssv619623 M 4 2 0 "" NA10860,NA18994 dgv628n71 10 27635747 27753531 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894983,nsv894982 M 6533 0 2 PTCHD3 IS34005,IS38362 esv2750889 10 27642965 27746607 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982129,essv6989580,essv6982127,essv6982128 M 771 0 1 PTCHD3 BEC_522 esv1131369 10 27645771 27645771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041666 S 2 1 0 "" HuRef esv1079962 10 27645775 27645775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351946 S 2 1 0 "" HuRef esv1344384 10 27645804 27645804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803424 S 2 1 0 "" HuRef esv2087409 10 27648933 27649364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657386 S 1 0 1 "" NA18507 dgv74n27 10 27652366 27753531 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466843,nsv466841,nsv466844,nsv466842 M 1557 0 4 PTCHD3 1780854079_A,HGDP00684,HGDP00733,HGDP01177 esv27278 10 27653188 27659630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17493 S 451 0 2 "" NA18502,NA18523 nsv470928 10 27656549 27745861 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544835,nssv544834,nssv544837,nssv544836,nssv544838 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD3 HGDP00054,HGDP00585,HGDP00590,HGDP00681,HGDP00684 nsv517741 10 27656549 27745861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664099,nssv670529,nssv676540,nssv677295,nssv679772,nssv653072,nssv668840,nssv667418,nssv669353,nssv683820 M 2026 0 10 PTCHD3 nsv6165 10 27662539 27694593 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1888 S 9 0 1 "" NA18555 esv28636 10 27664701 27670427 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17288 S 451 0 4 "" NA18505,NA18916,NA19108,NA19114 nsv436111 10 27677860 27682556 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466569 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv4187 10 27678193 27682182 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26628 S 1 0 1 Single Asian sample YH "" YH dgv141n67 10 27678207 27680640 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825318,nsv825317 M 31 0 21 "" AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18542,NA18552,NA18566,NA18570,NA18592,NA18942,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv498722 10 27678260 27682103 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585439 S 9 0 1 "" esv27118 10 27678327 27682267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19077 S 451 0 6 "" NA12044,NA12239,NA12287,NA18505,NA18523,NA18907 nsv514549 10 27678346 27680500 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628045 S 1414 0 1 "" dgv75n27 10 27688075 27745861 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466852,nsv466849,nsv466848,nsv466847,nsv466851 M 1557 0 5 PTCHD3 1780854318_A,1780862197_A,1798860186_A,HGDP00054,NINDS_78 nsv894984 10 27690559 27768519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593746 S 6533 0 1 PTCHD3 IS39512 esv2750890 10 27709485 27814507 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989709,essv6989336,essv6982945 M 771 0 1 PTCHD3 BEC_529 nsv466854 10 27709830 27738957 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542310 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTCHD3 HGDP00590 esv1477447 10 27736299 27736299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968233 S 2 1 0 PTCHD3 HuRef esv2335143 10 27771905 27772425 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963513 S 1 0 1 "" NA18507 esv270108 10 27815745 27815830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515416 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv825319 10 27832813 27835882 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432246 S 31 0 1 RAB18 AK20 nsv6176 10 27882185 27914807 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10720 S 9 1 0 "" NA18956 nsv894985 10 27909509 27997791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594685 S 6533 0 1 "" IS39996 nsv894986 10 27944652 27997791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565359 S 6533 0 1 "" IS30406 esv273573 10 27969894 27970254 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580023,essv2580727 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238 esv271932 10 27969904 27970239 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526137,essv2523040,essv2544025,essv2570871,essv2545477,essv2523234,essv2577315,essv2570615,essv2576628,essv2525304,essv2550301,essv2535229,essv2554298,essv2544522,essv2552282,essv2520579,essv2558423,essv2559437,essv2565555,essv2576241,essv2520042,essv2564215,essv2530765,essv2537476,essv2528304,essv2546970,essv2520756,essv2557317,essv2557204,essv2551816,essv2532402,essv2562698,essv2569341,essv2558763,essv2536911,essv2538970,essv2527120,essv2544933,essv2563095,essv2523922,essv2553075,essv2541298,essv2542915,essv2524324,essv2565183,essv2561200,essv2549536,essv2559821,essv2566197,essv2530907,essv2532756,essv2567858,essv2528792,essv2541719,essv2570136,essv2563671,essv2553340,essv2572319,essv2559032,essv2566741,essv2542039,essv2569107,essv2527863,essv2562413,essv2534178,essv2578369,essv2555632,essv2566501,essv2530067,essv2573933,essv2527676,essv2557747,essv2555832,essv2534438,essv2531420,essv2573513,essv2543287,essv2577140,essv2525748,essv2526980,essv2529575,essv2575434,essv2538605,essv2526375,essv2524259,essv2574840,essv2568751,essv2549901,essv2571267,essv2545784,essv2574343,essv2551235,essv2536173,essv2533040,essv2547624,essv2524801,essv2563554 M 157 97 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA07357,NA10847,NA11918,NA11931,NA11992,NA11993,NA12003,NA12004,NA12043,NA12044,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12750,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18516,NA18517,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18555,NA18558,NA18562,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18856,NA18861,NA18907,NA18909,NA18916,NA18940,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19129,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv987899 10 27985184 27985234 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579493 S 3 0 1 "" HuRef esv1497778 10 27985188 27985239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202527 S 2 0 1 "" HuRef esv4953 10 28035947 28036292 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27394 S 1 0 1 Single Asian sample YH MKX YH esv7833 10 28035979 28036208 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30274 S 1 0 1 MKX SJK nsv831813 10 28057612 28240657 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448292 S 95 0 1 ARMC4,MKX esv4816 10 28081424 28081672 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27257 S 1 0 1 Single Asian sample YH "" YH esv3437 10 28152702 28153223 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25878 S 1 0 1 Single Asian sample YH ARMC4 YH esv6382 10 28152792 28153093 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28823 S 1 0 1 ARMC4 SJK nsv25294 10 28152794 28153109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43872 M 24 ARMC4 nsv894987 10 28205508 28366781 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600618 S 6533 1 0 ARMC4 IS41905 esv271730 10 28274793 28274983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510527,essv2494256,essv2493228,essv2503018,essv2509860,essv2496256,essv2494719,essv2509001,essv2506057,essv2509217,essv2504739,essv2506842,essv2497674 M 157 13 0 Samples from several populations that are part of the HapMap project. ARMC4 NA18501,NA18502,NA18504,NA18507,NA18508,NA18511,NA18519,NA18522,NA18523,NA18909,NA19099,NA19102,NA19147 nsv831815 10 28275667 28447539 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448293,nssv1448294 M 95 0 2 ARMC4,MPP7 esv273413 10 28344692 28345031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580453,essv2579963 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv267980 10 28344704 28345062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504095,essv2506036,essv2498456,essv2513441,essv2497494,essv2512131 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18523,NA18858,NA18907,NA19147,NA19238 nsv831816 10 28344704 28533641 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448297 S 95 1 0 MPP7 nsv522191 10 28369690 28377284 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694966 S 2026 1 0 "" nsv894988 10 28377576 28450995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600418 S 6533 0 1 MPP7 IS41881 nsv525448 10 28377576 28603738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701576 S 2026 0 1 MPP7 nsv820072 10 28381799 28381967 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418881 S 2 0 1 MPP7 AK1 nsv831817 10 28409842 28579936 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448298 S 95 0 1 MPP7 nsv894989 10 28424104 28489980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555505 S 6533 0 1 MPP7 MS21397 nsv520842 10 28459766 28462714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676314,nssv685025,nssv688923,nssv684159 M 2026 0 4 MPP7 nsv521428 10 28462714 28463210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698038 S 2026 0 1 MPP7 esv25465 10 28498304 28500096 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20645 S 451 0 1 MPP7 NA18508 nsv521787 10 28498908 28504759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694555 S 2026 0 1 MPP7 nsv6188 10 28529082 28554074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv801 S 9 0 1 MPP7 NA19240 nsv498723 10 28543278 28551816 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585440 S 9 0 1 MPP7 esv28176 10 28544301 28551833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14688 S 451 0 1 MPP7 NA19240 nsv6199 10 28595521 28603210 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8530 S 9 0 1 MPP7 NA12156 dgv5n64 10 28602653 28611866 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818753,nsv818752 M 112 0 3 MPP7 NA18856,NA19093,NA19094 nsv466856 10 28602653 28611866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542311 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MPP7 HGDP01028 nsv470929 10 28602653 28611866 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544839 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MPP7 HGDP01028 nsv437663 10 28602653 28625502 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467544 S 60 0 1 Samples from several populations that are part of the HapMap project. MPP7 NA19094 esv2421445 10 28604213 28611866 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096339,essv5113665,essv5064004,essv5058460,essv5097428,essv5017326,essv5002180,essv5082783,essv5043095,essv5079318,essv5131285,essv5004478,essv5044130 M 1184 0 13 MPP7 NA18489,NA18857,NA19093,NA19094,NA19108,NA19109,NA19149,NA19151,NA19332,NA19437,NA19446,NA19457,NA19908 nsv515548 10 28604738 28619975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664059,nssv681776,nssv671042,nssv689794,nssv677353,nssv675537,nssv687437,nssv686096,nssv675278,nssv663877,nssv689015,nssv667241,nssv692794,nssv655380,nssv669862,nssv693090,nssv671218 M 2026 0 17 MPP7 esv25872 10 28604743 28613375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12765 S 451 0 1 MPP7 NA19108 nsv514550 10 28604756 28609104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628046 S 1414 0 1 MPP7 nsv442175 10 28604766 28609676 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MPP7 nsv438167 10 28607813 28609965 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470267,nssv470268 M 269 0 2 Samples from several populations that are part of the HapMap project. MPP7 NA19093,NA19094 nsv818754 10 28607813 28611866 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416380 S 112 0 1 MPP7 NA18857 nsv820584 10 28703317 28705150 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420856 S 1 0 1 "" NA10851 nsv825321 10 28703317 28705680 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425161,nssv1429995,nssv1423599,nssv1424392,nssv1437617,nssv1422777,nssv1436849,nssv1429243,nssv1435270,nssv1436027,nssv1433831,nssv1434585 M 31 0 12 "" AK12,AK14,AK2,NA18526,NA18542,NA18552,NA18566,NA18582,NA18592,NA18942,NA18949,NA18999 esv23522 10 28703488 28705670 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10367,esv10438 M 451 30 0 "" NA06985,NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 nsv825322 10 28703778 28704385 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431491 S 31 1 0 "" AK18 nsv825323 10 28703778 28704704 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425966 S 31 1 0 "" AK4 nsv825324 10 28703778 28705241 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425285,nssv1439048,nssv1428073,nssv1427667,nssv1434576,nssv1439839,nssv1438309,nssv1428495 M 31 7 1 "" AK8,NA18537,NA18547,NA18570,NA18947,NA18951,NA18968,NA18973 nsv820062 10 28703806 28705270 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419263 S 2 1 0 "" AK1 esv7030 10 28832595 28832874 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29471 S 1 0 0 "" SJK nsv894990 10 28934116 29041613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554161 S 6533 0 1 BAMBI,WAC MS20630 esv1468258 10 28978670 28978670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997551 S 2 1 0 "" HuRef esv270470 10 29117176 29117261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519147 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv24600 10 29126510 29128231 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43178 M 24 "" esv268377 10 29142516 29142848 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565875,essv2576106,essv2540996,essv2571589,essv2546399,essv2521234,essv2526014,essv2542434,essv2522852,essv2544000,essv2570989,essv2556790,essv2568113,essv2545502,essv2523316,essv2531878,essv2577431,essv2570632,essv2548258,essv2521812,essv2576844,essv2525532,essv2550420,essv2535039,essv2554045,essv2544284,essv2552284,essv2520585,essv2547221,essv2529190,essv2564649,essv2577923,essv2559490,essv2565312,essv2520134,essv2564229,essv2537607,essv2528552,essv2546989,essv2539964,essv2520922,essv2557211,essv2552549,essv2550195,essv2558805,essv2538886,essv2561561,essv2544778,essv2552936,essv2541269,essv2542617,essv2540658,essv2524397,essv2534710,essv2539924,essv2549514,essv2559880,essv2522039,essv2532739,essv2528789,essv2567388,essv2541870,essv2553217,essv2535846,essv2572597,essv2559333,essv2542139,essv2551132,essv2568922,essv2543530,essv2528126,essv2562225,essv2534084,essv2578333,essv2533587,essv2555709,essv2567286,essv2566408,essv2530164,essv2574044,essv2527503,essv2557766,essv2555806,essv2522488,essv2573459,essv2543318,essv2525711,essv2526800,essv2529720,essv2575385,essv2575239,essv2538750,essv2526669,essv2524153,essv2574834,essv2568691,essv2560314,essv2549735,essv2571470,essv2574345,essv2536148,essv2537768,essv2549023,essv2532982,essv2554529,essv2548033,essv2525014,essv2563522 M 157 108 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12776,NA12812,NA12815,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18511,NA18516,NA18519,NA18523,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18570,NA18571,NA18576,NA18579,NA18582,NA18592,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19225,NA19238,NA19240 esv273476 10 29142516 29142848 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581836,essv2582752,essv2583093,essv2583996,essv2583783 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1300565 10 29142547 29142547 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792424 S 2 1 0 "" HuRef esv269719 10 29145268 29145603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519162,essv2514079,essv2518657,essv2514852,essv2518461,essv2515115,essv2517904,essv2517706,essv2515817,essv2517357,essv2518394 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12043,NA12045,NA12234,NA12287,NA12812,NA12872,NA12878,NA18969,NA18970,NA19240 esv272842 10 29145268 29145603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581347,essv2581055 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1255994 10 29145304 29145304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181983 S 2 1 0 "" HuRef esv1001891 10 29150633 29151163 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587209 S 3 1 0 "" HuRef nsv825325 10 29150633 29151163 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433832 S 31 0 1 "" NA18526 esv275431 10 29164026 29170712 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585539,essv2585342 M 1250 1 1 "" esv267721 10 29186291 29186376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515780,essv2517352,essv2513918 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12815,NA18970,NA19143 esv1742820 10 29217810 29217810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098936 S 2 1 0 "" HuRef nsv25151 10 29230788 29230847 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43729 M 24 "" esv1574250 10 29231048 29231048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744274 S 2 1 0 "" HuRef esv2526265 10 29274041 29275558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327667 S 1 0 1 "" NA18507 esv5871 10 29461870 29462057 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28312 S 1 0 0 "" SJK nsv831818 10 29526372 29717139 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448299,nssv1448300,nssv1448301,nssv1448302 M 95 4 0 LYZL1 nsv24225 10 29591982 29592033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42803 M 24 "" nsv517926 10 29613720 29631707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695337 S 2026 0 1 LYZL1 nsv526199 10 29616420 29619488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702462 S 2026 0 1 LYZL1 esv2615964 10 29634605 29636175 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274517 S 1 0 1 LYZL1 NA18507 esv1963029 10 29634986 29635714 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521697 S 1 0 1 LYZL1 NA18507 nsv508574 10 29636606 29641437 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620052 S 4 0 1 LYZL1 NA15510 nsv519798 10 29661425 29829100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694347 S 2026 0 1 LOC387647,SVIL nsv512155 10 29751579 29753396 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624718 S 1 0 1 "" 1 esv2518867 10 29751743 29753135 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181047 S 1 0 1 "" NA18507 esv2127127 10 29751963 29752923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756625 S 1 0 1 "" NA18507 esv4280 10 29752128 29752799 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26721 S 1 0 1 Single Asian sample YH "" YH esv1000761 10 29752152 29752726 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585437 S 3 0 1 "" HuRef dgv14n6 10 29752152 29752735 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv24653,nsv25039 M 24 "" esv1396971 10 29752160 29752735 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650762 S 2 0 1 "" HuRef nsv819211 10 29781551 29783002 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419262 S 2 1 0 "" AK1 nsv825326 10 29782165 29782963 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425407,nssv1428086,nssv1434596,nssv1434577,nssv1428508,nssv1436028 M 31 6 0 "" NA18547,NA18566,NA18570,NA18592,NA18947,NA18968 nsv820613 10 29782165 29783183 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420857 S 1 0 1 "" NA10851 esv28423 10 29782353 29782968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19611 S 451 0 1 "" NA12749 dgv142n67 10 29782383 29782963 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825329,nsv825327,nsv825328 M 31 20 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18542,NA18552,NA18564,NA18582,NA18942,NA18951,NA18972,NA18973,NA18997,NA18999 dgv143n67 10 29782499 29783183 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825332,nsv825330 M 31 2 0 "" AK8,NA18969 nsv6210 10 29810091 29831993 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8537 S 9 0 1 SVIL NA12156 nsv6221 10 29823829 29857238 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8546 S 9 1 0 SVIL NA12156 nsv831819 10 29843746 30010541 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448304,nssv1448303,nssv1448305 M 95 0 3 MIR604,MIR938,SVIL esv1993198 10 29923029 29923459 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848818 S 1 0 1 SVIL NA18507 esv1599217 10 29923216 29923271 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971557 S 2 0 1 SVIL HuRef nsv528427 10 29940670 29941083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705020 S 2026 0 1 SVIL nsv24186 10 29959045 29964690 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42764 M 24 SVIL nsv519699 10 30003893 30007652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696999 S 2026 0 1 SVIL esv1019439 10 30058619 30058619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305362 S 2 1 0 SVIL HuRef esv1498751 10 30118370 30118370 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727031 S 2 1 0 "" HuRef nsv894991 10 30158628 30280212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529343 S 6533 1 0 "" SP81505 esv275234 10 30250153 30256191 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585595 S 1250 0 1 "" esv2645901 10 30270094 30271374 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369270 S 1 0 1 "" NA18507 esv2129816 10 30270727 30271326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619803 S 1 0 1 "" NA18507 nsv894992 10 30270755 30302771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552044 S 6533 0 1 "" MS19140 nsv466857 10 30285567 30305099 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542312 S 1557 0 1 "" 1780854097_A nsv831820 10 30404260 30590460 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448306 S 95 1 0 "" nsv6232 10 30485434 30530328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8555 S 9 0 1 "" NA12156 esv27172 10 30539650 30541035 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12866,esv20011 M 451 0 2 "" NA18523,NA19225 esv33433 10 30574079 30574798 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97556 S 51 0 1 "" 21616 nsv894993 10 30576578 30715496 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600020 S 6533 1 0 LOC729668,MTPAP IS41831 nsv509349 10 30652786 30706986 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623605 S 4 1 0 LOC729668,MTPAP NA18994 esv21514 10 30662133 30664622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19633 S 451 0 1 MTPAP NA18907 nsv831821 10 30675156 30865135 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448308,nssv1448311,nssv1448309,nssv1448313,nssv1448312,nssv1448319,nssv1448314,nssv1448315,nssv1448317,nssv1448316,nssv1448310 M 95 0 11 LOC729668,MAP3K8,MTPAP nsv507546 10 30695987 30701987 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620522 S 4 1 0 LOC729668 NA15510 nsv507547 10 30714954 30720954 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619096 S 4 1 0 "" NA10860 nsv894994 10 30727493 31050789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600021 S 6533 1 0 LYZL2,MAP3K8 IS41831 nsv831822 10 30788261 30957249 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448320 S 95 1 0 LYZL2,MAP3K8 esv267738 10 30790298 30794343 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505360,essv2511678,essv2505636,essv2499531 M 157 4 0 Samples from several populations that are part of the HapMap project. MAP3K8 NA07357,NA18853,NA18940,NA19005 esv271049 10 30811529 30811614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518060 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv1962669 10 30945638 30946066 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518998 S 1 0 1 LYZL2 NA18507 esv1014379 10 31006520 31006611 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790855 S 2 0 1 "" HuRef esv268704 10 31041247 31041332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517001,essv2518190 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12872 esv1485696 10 31041285 31041285 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164596 S 2 1 0 "" HuRef nsv894995 10 31064141 31419111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600022 S 6533 1 0 ZNF438 IS41831 esv6865 10 31145849 31145928 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29306 S 1 1 0 "" SJK nsv510215 10 31178869 31184869 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621392,nssv624116 M 4 0 2 ZNF438 NA15510,NA18994 esv2325923 10 31202859 31203282 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989468 S 1 0 1 ZNF438 NA18507 esv2556462 10 31231306 31231463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266924 S 1 0 1 ZNF438 NA18507 nsv508575 10 31261300 31305184 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617377 S 4 0 1 ZNF438 CHM nsv6243 10 31265322 31293711 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6345 S 9 0 1 ZNF438 NA12156 nsv819044 10 31285205 31291846 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419786 S 2 1 0 ZNF438 AK1 dgv23n17 10 31285335 31295726 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437110,nsv437108,nsv437109,nsv437107 M 60 0 4 ZNF438 NA07019,NA07348,NA10839,NA10851 nsv821086 10 31286584 31291850 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420859 S 1 0 1 ZNF438 NA10851 nsv825333 10 31286584 31291918 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421924 S 31 0 1 ZNF438 NA18997 esv21784 10 31286703 31291731 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19638 S 451 35 0 ZNF438 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv498724 10 31286753 31291776 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585441 S 9 0 1 ZNF438 nsv514551 10 31287100 31291626 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628048 S 1414 0 1 ZNF438 esv2421350 10 31287148 31291785 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083891,essv5145417,essv5032524,essv5149669,essv5038610,essv5065912,essv5058407,essv5018477,essv5117663,essv5006100,essv5155622,essv5012551,essv5002532,essv5106310,essv5018544,essv5044150,essv5039647,essv5119164,essv5054025,essv5122445,essv5011658,essv5016521,essv5151833,essv5069786,essv5008076,essv5081943,essv5159969,essv5095953,essv5145290,essv5160330,essv5142405,essv5038803,essv5038930,essv5113279,essv5013706,essv5066650,essv5022456,essv5158415,essv5032034,essv5120208,essv5023248,essv5003329,essv5111955,essv5144126,essv5031110,essv5080081,essv5088648,essv5140425,essv5081178,essv5010485,essv5025328,essv5041718,essv5135967,essv5092862,essv5095384,essv5053703,essv5094526,essv5095651,essv5135396,essv5009876,essv5052270,essv5118970,essv5099970,essv5145492,essv5157792,essv5025919,essv5035282,essv5035056,essv5028665,essv5132745,essv5034466,essv5059059,essv5045966,essv5072334,essv5023452,essv5155419,essv5114183,essv5094668,essv5159709,essv5082135,essv5038319,essv5128577,essv5141763,essv5108057,essv5071131,essv5064298,essv5048428,essv5074175,essv5102611,essv5068672,essv5084628,essv5054333,essv5135708,essv5042697,essv5037040,essv5030268,essv5055414,essv5034446,essv5088473,essv5061688,essv5023477,essv5064676,essv5135030,essv5040252,essv5108408,essv5156493,essv5154509,essv5109717,essv5160723,essv5063749,essv5118536,essv5132878,essv5112239,essv5128464,essv5093124,essv5048631,essv5095703,essv5022433,essv5112212,essv5119769,essv5152463,essv5074465,essv5139571,essv5031415,essv5156288,essv5030049,essv5157239,essv5018788,essv5087843,essv5027958,essv5149041,essv5130463,essv5084989,essv5073857,essv5089226,essv5150841,essv5056597,essv5047030,essv5080523,essv5119999,essv5026314,essv5052695,essv5078070,essv5069076,essv5003431,essv5117403,essv5082684,essv5156568,essv5071106,essv5029077,essv5084523,essv5018610,essv5074624,essv5098443,essv5148410,essv5146272,essv5029205,essv5010051,essv5155558,essv5014929,essv5158019,essv5012781,essv5023811,essv5114681,essv5060891,essv5123979 M 1184 0 166 ZNF438 NA06986,NA07014,NA07022,NA07031,NA07051,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10835,NA10836,NA10837,NA10839,NA10856,NA10863,NA10864,NA11829,NA11843,NA11892,NA11894,NA11917,NA11919,NA12003,NA12005,NA12006,NA12057,NA12145,NA12154,NA12156,NA12234,NA12248,NA12273,NA12275,NA12282,NA12344,NA12347,NA12707,NA12708,NA12716,NA12739,NA12748,NA12750,NA12761,NA12766,NA12775,NA12776,NA12778,NA12802,NA12812,NA12814,NA12829,NA12832,NA12842,NA12843,NA12874,NA12877,NA12878,NA12890,NA12891,NA19649,NA19650,NA19659,NA19661,NA19662,NA19663,NA19676,NA19677,NA19703,NA19705,NA19708,NA19721,NA19749,NA19750,NA19751,NA19756,NA19771,NA19772,NA19773,NA19914,NA19915,NA20504,NA20508,NA20510,NA20516,NA20517,NA20518,NA20520,NA20522,NA20524,NA20527,NA20528,NA20529,NA20542,NA20589,NA20753,NA20756,NA20766,NA20769,NA20770,NA20771,NA20772,NA20773,NA20775,NA20785,NA20786,NA20787,NA20792,NA20795,NA20797,NA20805,NA20808,NA20809,NA20813,NA20826,NA20858,NA20859,NA20862,NA20874,NA20877,NA20879,NA20881,NA20890,NA20894,NA20897,NA20901,NA20903,NA21086,NA21090,NA21092,NA21102,NA21103,NA21106,NA21112,NA21143,NA21302,NA21303,NA21307,NA21316,NA21355,NA21356,NA21385,NA21386,NA21436,NA21440,NA21441,NA21442,NA21457,NA21475,NA21489,NA21490,NA21513,NA21517,NA21519,NA21520,NA21524,NA21526,NA21573,NA21577,NA21608,NA21613,NA21615,NA21619,NA21683,NA21741 dgv629n71 10 31302678 31425455 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894996,nsv894998,nsv894997 M 6533 0 4 ZNF438 IS34768,MS20630,MS24868,SP57536 nsv831823 10 31342301 31516755 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448321 S 95 1 0 ZNF438 nsv819898 10 31347009 31352086 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419683 S 2 0 1 ZNF438 AK1 nsv525670 10 31442773 31450100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701827 S 2026 0 1 "" nsv818756 10 31442773 31452942 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417052 S 112 0 1 "" NA07000 esv996426 10 31479596 31486690 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565379 S 3 0 1 "" HuRef nsv511451 10 31482441 31484982 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626064 S 1 0 1 "" 1 nsv512156 10 31483300 31484860 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624719 S 1 0 1 "" 1 esv8262 10 31483374 31484886 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30703 S 1 0 1 "" SJK nsv821567 10 31483544 31484776 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420860 S 1 0 1 "" NA10851 esv25543 10 31483544 31485487 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13681,esv19318 M 451 32 0 "" NA06985,NA07045,NA11894,NA11931,NA12006,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1001292 10 31483712 31484732 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586266 S 3 1 0 "" HuRef esv24024 10 31539159 31539835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20943 S 451 0 1 "" NA19147 nsv509350 10 31554611 31564093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619629 S 4 1 0 "" NA10860 esv7004 10 31571392 31571490 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29445 S 1 1 0 "" SJK esv2620523 10 31608171 31609582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255080 S 1 0 1 "" NA18507 nsv819388 10 31611936 31627351 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418654 S 2 0 1 "" AK1 esv26555 10 31617817 31620361 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20201 S 451 1 0 "" NA18517 nsv831824 10 31619726 31669689 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448323,nssv1448322 M 95 0 2 ZEB1,ZEB1-AS1 nsv831826 10 31711322 31868133 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448324 S 95 0 1 ZEB1 esv2569165 10 31886499 31887836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327040 S 1 0 1 "" NA18507 esv1336361 10 32016118 32016118 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956932 S 2 1 0 "" HuRef esv21491 10 32084126 32088156 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11614 S 451 0 2 "" NA18523,NA19129 esv274256 10 32234751 32236409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580192,essv2580303,essv2579908,essv2580794,essv2579201,essv2579726 M 7 6 0 Samples from several populations that are part of the HapMap project. ARHGAP12 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv271395 10 32234760 32236403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496862,essv2493232,essv2504266,essv2513376,essv2509146,essv2495720,essv2499143,essv2496989,essv2511989,essv2501876,essv2498164 M 157 11 0 Samples from several populations that are part of the HapMap project. ARHGAP12 NA18498,NA18504,NA18505,NA18907,NA18909,NA18916,NA19114,NA19190,NA19238,NA19239,NA19240 nsv24963 10 32249050 32249383 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43541 M 24 ARHGAP12 nsv6254 10 32265946 32310924 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8568 S 9 0 1 "" NA12156 nsv442176 10 32290286 32306951 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv39n21 10 32296877 32306648 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527111,nsv521373 M 2026 0 2 "" nsv512157 10 32297817 32300624 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624720 S 1 0 1 "" 1 nsv6265 10 32311160 32312621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2838 S 9 1 0 "" NA18555 esv270848 10 32321197 32321361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496694,essv2503028,essv2496185,essv2498614,essv2500735,essv2505614,essv2506523 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA18507,NA18511,NA18858,NA18973,NA19005,NA19108 esv2572950 10 32360218 32361362 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220422 S 1 1 0 KIF5B NA18507 esv1643179 10 32360840 32360840 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647681 S 2 1 0 KIF5B HuRef esv2603542 10 32381349 32382754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288680 S 1 0 1 KIF5B NA18507 dgv630n71 10 32431115 32468242 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894999,nsv895000 M 6533 0 3 "" MS10948,MS18484,MS25854 esv23618 10 32449021 32468340 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20186 S 451 1 0 "" NA18909 nsv6276 10 32509388 32543048 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv810 S 9 1 0 "" NA19240 nsv895001 10 32543365 32585672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505006 S 6533 1 0 "" SP52951 nsv525503 10 32551483 32552426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701635 S 2026 0 1 "" esv2750500 10 32571978 32576385 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100836 S 51 0 1 "" 21656 nsv512158 10 32593268 32596215 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624721 S 1 0 1 "" 1 esv998575 10 32593766 32594364 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587205 S 3 0 1 "" HuRef nsv825334 10 32688547 32689199 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436853 S 31 1 0 "" NA18542 esv1550783 10 32694589 32694909 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062370 S 2 0 1 "" HuRef esv269071 10 32714049 32714385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515045,essv2516393,essv2518205 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA12814,NA19240 esv273753 10 32714049 32714385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581263 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv512159 10 32743900 32747158 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624723 S 1 0 1 "" 1 esv2497593 10 32744695 32746427 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306159 S 1 0 1 "" NA18507 esv996545 10 32745484 32746089 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563566 S 3 0 1 "" HuRef esv2247012 10 32745539 32746268 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819709 S 1 0 1 "" NA18507 esv4104 10 32745689 32746124 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26545 S 1 0 1 Single Asian sample YH "" YH esv1009751 10 32745732 32746069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582865 S 3 0 1 "" HuRef esv1675068 10 32745743 32746081 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752242 S 2 0 1 "" HuRef esv5660 10 32745748 32746073 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28101 S 1 0 1 "" SJK esv275237 10 32806070 32822207 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586036,essv2585708 M 1250 1 1 CCDC7 dgv631n71 10 32842077 32956177 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895002,nsv895003,nsv895004 M 6533 9 0 C10orf68,CCDC7 IS30148,IS41857,MS12823,MS13408,MS14634,MS15922,MS21841,MS21863,MS24239 nsv895005 10 32874249 32992035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567024 S 6533 0 1 C10orf68,CCDC7 IS31041 esv24286 10 32903336 32909107 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14650 S 451 3 0 C10orf68,CCDC7 NA18907,NA18916,NA19190 nsv895006 10 32912126 32999064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600676,nssv1565349 M 6533 0 2 C10orf68 IS30398,IS41909 esv1722312 10 32976406 32976406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733202 S 2 1 0 C10orf68 HuRef dgv242e1 10 32991417 33000799 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1045,essv18457,esv1112 M 271 0 0 C10orf68 NA11832 dgv40n21 10 32992035 33021833 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524105,nsv523613 M 2026 0 2 C10orf68 esv2461269 10 32992104 32993622 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344108 S 1 0 1 C10orf68 NA18507 nsv895007 10 33050310 33177557 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527801 S 6533 1 0 C10orf68 SP80994 nsv831827 10 33146672 33314838 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448325 S 95 0 1 C10orf68,ITGB1 nsv6287 10 33183691 33216129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv819 S 9 1 0 C10orf68 NA19240 esv23179 10 33229325 33230534 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11352 S 451 0 6 ITGB1 NA12006,NA18505,NA18523,NA18861,NA19099,NA19225 esv999118 10 33229425 33230534 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586529 S 3 0 1 ITGB1 HuRef nsv831828 10 33304233 33438948 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448327,nssv1448328,nssv1448326 M 95 0 3 "" nsv825335 10 33304458 33306281 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434578 S 31 0 1 "" NA18570 esv272914 10 33355217 33361388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580829 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269054 10 33355311 33361372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504164,essv2493701,essv2512085 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18517,NA19238 esv259579 10 33424264 33424559 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393817,essv2393739,essv2393986,essv2394340 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 esv259761 10 33424271 33424581 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399054,essv2401134,essv2395796,essv2399961,essv2396963,essv2395582,essv2397647,essv2397834,essv2399247,essv2394999,essv2396521,essv2396096,essv2395726,essv2400951,essv2399576,essv2395052,essv2397877,essv2398843,essv2398962,essv2399452,essv2400097,essv2394708,essv2397931,essv2394433,essv2395894,essv2397497,essv2395440,essv2398126,essv2397131,essv2400832,essv2394562,essv2398731,essv2398323,essv2399286,essv2394852,essv2399773,essv2399507,essv2396420,essv2397259,essv2395910,essv2397097,essv2400529 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12004,NA12156,NA12892,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18532,NA18547,NA18570,NA18571,NA18577,NA18582,NA18603,NA18858,NA18861,NA18870,NA18907,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18965,NA19005,NA19093,NA19102,NA19114,NA19129,NA19137,NA19138,NA19225,NA19238,NA19239,NA19240 esv8271 10 33424436 33424521 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30712 S 1 1 0 "" SJK esv1711818 10 33498888 33498974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903702 S 2 0 1 "" HuRef nsv831829 10 33507238 33673047 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448330 S 95 0 1 NRP1 esv27085 10 33532475 33533309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12358 S 451 0 1 NRP1 NA12878 esv4611 10 33532597 33533136 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27052 S 1 0 1 Single Asian sample YH NRP1 YH nsv24782 10 33532647 33532935 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43360 M 24 NRP1 esv8432 10 33532653 33532951 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30873 S 1 0 1 NRP1 SJK nsv825336 10 33533989 33535416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427670 S 31 0 1 NRP1 AK8 nsv6299 10 33543250 33602116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10748,nssv3871 M 9 2 0 NRP1 NA12878,NA18956 nsv528133 10 33606942 33608941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704678 S 2026 0 1 NRP1 esv268350 10 33617363 33617589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503188,essv2511247,essv2504306,essv2502941,essv2496301,essv2513443,essv2495502,essv2506589,essv2509505 M 157 9 0 Samples from several populations that are part of the HapMap project. NRP1 NA11881,NA11931,NA18505,NA18507,NA18511,NA18907,NA18916,NA19108,NA19129 esv8522 10 33668671 33668754 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30963 S 1 1 0 "" SJK nsv895008 10 33821434 33857539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553759 S 6533 0 1 "" MS20286 esv2452067 10 33936795 33938278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363004 S 1 0 1 "" NA18507 nsv526052 10 33988001 34050796 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702289 S 2026 1 0 "" esv275143 10 34000832 34006115 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585643 S 1250 0 1 "" esv2651034 10 34040699 34040928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275871 S 1 0 1 "" NA18507 esv23220 10 34136539 34137068 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18644 S 451 1 0 "" NA19147 esv998783 10 34136703 34137169 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586608 S 3 1 0 "" HuRef esv1561740 10 34171780 34171780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281158 S 2 1 0 "" HuRef esv274091 10 34226724 34226943 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580774,essv2579236,essv2579762 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269912 10 34275087 34275437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510559,essv2496517,essv2508928,essv2505244,essv2500895,essv2505862,essv2493918,essv2501519,essv2509628,essv2497555,essv2512194,essv2498270 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18510,NA18522,NA18853,NA18856,NA18861,NA18871,NA19093,NA19129,NA19147,NA19238,NA19240 esv272213 10 34275089 34275419 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584326,essv2583389 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv523764 10 34330002 34330131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699585 S 2026 0 1 "" esv2242760 10 34349597 34350051 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766162 S 1 0 1 "" NA18507 nsv831830 10 34351870 34487725 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448332,nssv1448331 M 95 2 0 PARD3 nsv6310 10 34402278 34435514 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1889 S 9 1 0 "" NA18555 nsv524046 10 34499356 34981140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699910 S 2026 0 1 PARD3 nsv466859 10 34539653 34603931 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542313 S 1557 0 1 PARD3 1788485381_A nsv442177 10 34557071 34562360 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PARD3 nsv514552 10 34557748 34562088 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628049 S 1414 0 1 PARD3 esv998100 10 34563045 34563045 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570836 S 3 1 0 PARD3 HuRef esv2335600 10 34575377 34575834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877113 S 1 0 1 PARD3 NA18507 esv269969 10 34585655 34585992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514917,essv2515578,essv2515987 M 157 3 0 Samples from several populations that are part of the HapMap project. PARD3 NA12812,NA12815,NA12873 esv272084 10 34611014 34611345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540687,essv2526180,essv2568302,essv2523159,essv2550534,essv2520567,essv2529137,essv2558375,essv2564763,essv2565212,essv2520038,essv2564271,essv2555017,essv2552725,essv2562579,essv2527200,essv2550978,essv2562171,essv2529494,essv2560726,essv2549950,essv2554411 M 157 22 0 Samples from several populations that are part of the HapMap project. PARD3 NA07346,NA11831,NA11918,NA11995,NA12004,NA12155,NA12716,NA12749,NA12750,NA12751,NA12812,NA12815,NA12828,NA12872,NA18502,NA18507,NA18522,NA18858,NA18909,NA19093,NA19116,NA19225 esv267838 10 34652197 34652324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504146,essv2493895,essv2511954 M 157 3 0 Samples from several populations that are part of the HapMap project. PARD3 NA18505,NA19210,NA19238 esv273183 10 34652212 34652391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580786 S 7 1 0 Samples from several populations that are part of the HapMap project. PARD3 NA19238 esv7487 10 34667188 34667297 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29928 S 1 1 0 PARD3 SJK dgv632n71 10 34705330 35389580 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895010,nsv895009,nsv895012 M 6533 3 0 CUL2,PARD3 SP50593,SP55256,SP58218 nsv470930 10 34712469 34815751 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544840 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARD3 HGDP00719 nsv528333 10 34712469 34846750 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704915 S 2026 1 0 PARD3 nsv895011 10 34712469 34882843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556050,nssv1575461 M 6533 0 2 PARD3 IS33747,MS21771 nsv466860 10 34712469 35384975 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542314 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUL2,PARD3 HGDP00719 esv2454597 10 34723837 34725438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351283 S 1 0 1 PARD3 NA18507 esv2162225 10 34724282 34725015 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586208 S 1 0 1 PARD3 NA18507 nsv24936 10 34724475 34724799 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43514 M 24 PARD3 esv993510 10 34724483 34724807 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581925 S 3 0 1 PARD3 HuRef esv1409307 10 34724489 34724814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724598 S 2 0 1 PARD3 HuRef nsv527577 10 34726073 34732241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704038 S 2026 0 1 PARD3 nsv895013 10 34757809 34853748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553566 S 6533 1 0 PARD3 MS20170 esv22678 10 34794604 34796377 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14998 S 451 0 2 PARD3 NA18508,NA18511 nsv518288 10 34815751 34846750 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695719 S 2026 1 0 PARD3 nsv895014 10 34882843 34998435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550170 S 6533 1 0 PARD3 MS18332 nsv520991 10 34917269 34938885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697725 S 2026 0 1 PARD3 nsv525336 10 34954177 34998435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701454 S 2026 0 1 PARD3 nsv895015 10 34954177 35340629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588743 S 6533 1 0 CUL2,PARD3 IS38239 esv273634 10 34963517 34963670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580825,essv2579217,essv2579624 M 7 3 0 Samples from several populations that are part of the HapMap project. PARD3 NA19238,NA19239,NA19240 nsv526446 10 35011395 35012850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702749 S 2026 0 1 PARD3 nsv466862 10 35024890 35340629 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542316 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUL2,PARD3 HGDP00929 nsv470931 10 35024890 35389580 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544844,nssv544842,nssv544845,nssv544841 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUL2,PARD3 HGDP00618,HGDP00719,HGDP00903,HGDP00929 nsv521667 10 35024965 35295871 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698286 S 2026 1 0 PARD3 nsv436113 10 35046310 35051529 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466570 S 2 0 1 Samples from several populations that are part of the HapMap project. PARD3 NA18505 dgv76n27 10 35060644 35194352 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466863,nsv466866 M 1557 2 0 PARD3 HGDP00886,HGDP00956 dgv77n27 10 35076853 35115823 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466865,nsv466864 M 1557 2 0 PARD3 1780854336_A,NINDS_119 esv272036 10 35079571 35079656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517008 S 157 1 0 Samples from several populations that are part of the HapMap project. PARD3 NA11931 nsv466867 10 35092218 35142824 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542321 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARD3 HGDP00183 nsv525060 10 35115823 35349373 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701111 S 2026 1 0 CUL2,PARD3 nsv24473 10 35136948 35146056 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43051 M 24 PARD3 nsv895016 10 35172748 35247159 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570661 S 6533 1 0 "" IS32312 nsv519128 10 35194352 35276450 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696606 S 2026 1 0 "" nsv508576 10 35202038 35225111 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618901 S 4 0 1 "" NA10860 nsv507548 10 35203952 35209952 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620529 S 4 1 0 "" NA15510 nsv516936 10 35290209 35291231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671357,nssv655055,nssv678427 M 2026 0 3 "" nsv6321 10 35293814 35326181 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3872 S 9 1 0 "" NA12878 nsv466869 10 35295871 35381307 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542322 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUL2 HGDP00618 dgv633n71 10 35314756 35399625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895017,nsv895018 M 6533 0 2 CUL2 IS31090,IS40819 nsv466870 10 35340629 35378705 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542323 S 1557 0 1 CUL2 1780854255_A nsv895019 10 35349373 35547170 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524155 S 6533 1 0 CREM,CUL2 SP54882 nsv507549 10 35407780 35413780 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620533 S 4 1 0 CUL2 NA15510 nsv895020 10 35416775 35491205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512623 S 6533 1 0 CREM,CUL2 SP55565 nsv820199 10 35508173 35509546 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419249 S 2 0 1 CREM AK1 nsv820006 10 35570653 35574104 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419545 S 2 0 1 "" AK1 nsv6332 10 35613763 35658796 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8575 S 9 0 1 CCNY NA12156 esv2004683 10 35633038 35633737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689324 S 1 0 1 CCNY NA18507 esv5330 10 35633153 35633619 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27771 S 1 0 1 Single Asian sample YH CCNY YH esv1068454 10 35878772 35878936 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201095 S 2 0 1 CCNY HuRef nsv6343 10 35897072 35923172 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6353 S 9 1 0 CCNY NA12156 nsv825337 10 35911955 36014260 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439050 S 31 1 0 FZD8,GJD4,MIR4683 NA18973 dgv144n67 10 35928944 36010851 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825339,nsv825338 M 31 2 0 FZD8,GJD4,MIR4683 NA18968,NA18969 nsv466871 10 35929533 36002893 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542324 S 1557 0 1 FZD8,GJD4,MIR4683 1780862415_A nsv513007 10 35939726 35939828 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625664 S 1 1 0 "" 1 esv1010054 10 35949251 35954316 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564676 S 3 0 1 "" HuRef esv275527 10 35949992 35954042 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586104,essv2585384 M 1250 1 1 "" nsv521143 10 35953211 35976759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697812 S 2026 0 1 FZD8,MIR4683 nsv825340 10 35957113 35980370 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426883 S 31 1 0 FZD8,MIR4683 AK6 nsv825341 10 35967127 35972487 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428520 S 31 1 0 FZD8,MIR4683 NA18947 esv22469 10 35968154 35971860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18995 S 451 0 2 FZD8,MIR4683 NA07037,NA07045 esv268622 10 36035043 36035386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565625,essv2540677,essv2546301,essv2521251,essv2526191,essv2542397,essv2523036,essv2544183,essv2568331,essv2523487,essv2531751,essv2577466,essv2570659,essv2548306,essv2521691,essv2576635,essv2535050,essv2554026,essv2544227,essv2520712,essv2547198,essv2529068,essv2558577,essv2564322,essv2577770,essv2553800,essv2565350,essv2520013,essv2563969,essv2537455,essv2528649,essv2546764,essv2557151,essv2552585,essv2538262,essv2524524,essv2534833,essv2539548,essv2549163,essv2519715,essv2560118,essv2521950,essv2565917,essv2531270,essv2532745,essv2529030,essv2567635,essv2570041,essv2563838,essv2553380,essv2566856,essv2550860,essv2527958,essv2539395,essv2533814,essv2578365,essv2572945,essv2533762,essv2566446,essv2530085,essv2573947,essv2555909,essv2522316,essv2531660,essv2525754,essv2526803,essv2529733,essv2538822,essv2526388,essv2574846,essv2530433,essv2572739,essv2560355,essv2546109,essv2536012,essv2538043,essv2548663,essv2533173,essv2554616,essv2548012,essv2524788,essv2563262,essv2558161 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12815,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18547,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18593,NA18603,NA18605,NA18853,NA18858,NA18907,NA18912,NA18916,NA18940,NA18942,NA18944,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18980,NA19005,NA19093,NA19108,NA19114,NA19138,NA19141,NA19143,NA19190,NA19239 esv273113 10 36035043 36035386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582117,essv2582326,essv2582819,essv2584463 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv1299484 10 36071819 36071899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140448 S 2 0 1 "" HuRef esv1009398 10 36071823 36071899 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578070 S 3 0 1 "" HuRef nsv6354 10 36084304 36129124 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8592 S 9 0 1 "" NA12156 dgv145n67 10 36259595 36261608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825344,nsv825343 M 31 0 14 "" AK12,AK14,AK16,AK18,NA18526,NA18537,NA18552,NA18564,NA18570,NA18582,NA18592,NA18947,NA18949,NA18972 esv4260 10 36259634 36261156 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26701 S 1 0 1 Single Asian sample YH "" YH nsv24466 10 36259668 36261072 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43044 M 24 "" esv33103 10 36259824 36260926 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99312 S 51 0 1 "" 22275 nsv895021 10 36284905 37727526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528239 S 6533 0 1 ANKRD30A SP81168 esv32819 10 36286382 36288172 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98361 S 51 0 1 "" 22352 nsv831831 10 36343124 36519689 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448344,nssv1448343,nssv1448338,nssv1448335,nssv1448337,nssv1448339,nssv1448334,nssv1448333,nssv1448341,nssv1448342,nssv1448336 M 95 11 0 "" esv22312 10 36431561 36434804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19838 S 451 0 2 "" NA19114,NA19225 esv2421599 10 36432451 36434615 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5034467,essv5149327,essv5117075,essv5089536,essv5108068,essv5139388,essv5025211,essv5070128,essv5035608,essv5152902,essv5006876,essv5035661,essv5113066 M 1184 0 13 "" NA18486,NA18933,NA19093,NA19114,NA19225,NA19380,NA19382,NA19915,NA20356,NA20363,NA21476,NA21574,NA21575 esv8897 10 36451918 36452193 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31338 S 1 0 1 "" SJK esv2616345 10 36507044 36508077 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231778 S 1 1 0 "" NA18507 esv267858 10 36507279 36507620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540720,essv2547361,essv2558662,essv2564745,essv2576318,essv2554814,essv2562149,essv2539955,essv2520819,essv2557550,essv2556935,essv2532136,essv2562582,essv2569378,essv2550196,essv2536848,essv2569840,essv2542197,essv2550959,essv2569198,essv2556417,essv2562345,essv2575524,essv2575084,essv2560718,essv2524265,essv2545052,essv2548123,essv2537869,essv2533075,essv2547862,essv2524810,essv2558217 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07347,NA07357,NA10851,NA11831,NA12717,NA12750,NA12751,NA12814,NA12872,NA12874,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18511,NA18517,NA18520,NA18856,NA18858,NA18861,NA18871,NA18909,NA19099,NA19102,NA19116,NA19129,NA19172,NA19210 nsv523450 10 36576180 36601644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699207 S 2026 0 1 "" esv2567202 10 36599053 36600578 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271569 S 1 0 1 "" NA18507 esv272616 10 36633607 36633942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582157,essv2582426,essv2583264 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv272043 10 36633610 36633945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565648,essv2575910,essv2546529,essv2521266,essv2526022,essv2542371,essv2522972,essv2570852,essv2568342,essv2523149,essv2531783,essv2570464,essv2548561,essv2550676,essv2525410,essv2550364,essv2535177,essv2554006,essv2520552,essv2547435,essv2529411,essv2564767,essv2577814,essv2553833,essv2565406,essv2576256,essv2520164,essv2564205,essv2530732,essv2562052,essv2537479,essv2528479,essv2546986,essv2552571,essv2551786,essv2562756,essv2539208,essv2544903,essv2562988,essv2523630,essv2552882,essv2561104,essv2539541,essv2519684,essv2566118,essv2532827,essv2567743,essv2528830,essv2553275,essv2572356,essv2559043,essv2567182,essv2529924,essv2557585,essv2534331,essv2522623,essv2531580,essv2577103,essv2529749,essv2575255,essv2530349,essv2568490,essv2536219,essv2537788,essv2548694,essv2533422,essv2554752,essv2548020,essv2524890,essv2563231,essv2557921 M 157 71 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11881,NA11894,NA11918,NA11919,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12045,NA12155,NA12156,NA12234,NA12249,NA12287,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18502,NA18504,NA18507,NA18519,NA18526,NA18532,NA18537,NA18542,NA18562,NA18563,NA18566,NA18572,NA18576,NA18577,NA18579,NA18605,NA18609,NA18638,NA18947,NA18949,NA18953,NA18959,NA18960,NA18961,NA18970,NA19093,NA19102,NA19141,NA19147 nsv6365 10 36774778 36803409 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2843,nssv10752 M 9 2 0 "" NA18555,NA18956 esv2476794 10 36865545 36867343 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313726 S 1 0 1 "" NA18507 esv2042754 10 36865876 36867298 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856394 S 1 0 1 "" NA18507 nsv526164 10 36935290 36937656 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702423 S 2026 0 1 "" esv2545617 10 36985849 36986741 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282101 S 1 1 0 "" NA18507 esv1145200 10 36986391 36986391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219260 S 2 1 0 "" HuRef esv1405834 10 37014996 37015052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265485 S 2 0 1 "" HuRef esv1446510 10 37071557 37071617 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330081 S 2 0 1 "" HuRef esv27057 10 37099642 37100399 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14054 S 451 0 1 "" NA11995 nsv24559 10 37141774 37141994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43137 M 24 "" nsv6376 10 37274725 37319882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8598 S 9 0 1 "" NA12156 dgv634n71 10 37278007 37318936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895023,nsv895022,nsv895024 M 6533 0 6 "" IS35701,IS40890,IS41832,IS41898,MS19685,MS21356 dgv635n71 10 37279571 37332756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895025,nsv895027 M 6533 0 6 "" IS30143,IS30147,IS40657,IS41939,MS20612,MS21182 nsv895026 10 37279571 37362034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555307 S 6533 0 1 "" MS21258 nsv520049 10 37290394 37311651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687284,nssv660286 M 2026 0 2 "" dgv243e1 10 37325769 37665705 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv332,esv91,essv3380,essv17477 M 271 0 0 ANKRD30A NA12762,NA18945 nsv8615 10 37346229 37348676 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18214 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv6387 10 37381982 37416509 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2844 S 9 1 0 "" NA18555 nsv518524 10 37383602 37384534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695965 S 2026 0 1 "" nsv7201 10 37390727 37478022 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv836,nssv11238,nssv827,nssv1890 M 9 0 0 ANKRD30A NA15510,NA18555,NA19240 esv1489083 10 37397434 37397434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788536 S 2 1 0 "" HuRef nsv6398 10 37403212 37434319 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8606 S 9 0 1 "" NA12156 nsv831832 10 37406137 37603764 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448345,nssv1448346 M 95 1 1 ANKRD30A nsv825345 10 37410073 37410666 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427671 S 31 1 0 "" AK8 nsv499421 10 37433463 37440636 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585492 S 9 0 0 "" nsv825346 10 37433746 37439527 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429246 S 31 0 1 "" AK12 nsv895028 10 37452805 37486786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507198 S 6533 0 1 ANKRD30A SP54490 nsv509351 10 37456542 37462577 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619633 S 4 1 0 ANKRD30A NA10860 nsv895029 10 37463203 37537704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516079 S 6533 1 0 ANKRD30A SP56396 nsv825347 10 37477321 37535903 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423601,nssv1430759,nssv1429999,nssv1421925,nssv1428545,nssv1439843,nssv1434618,nssv1437620,nssv1435272,nssv1427672,nssv1425530,nssv1429247,nssv1431494,nssv1433025,nssv1426884,nssv1425165,nssv1440511,nssv1425967,nssv1432248,nssv1428481,nssv1424395,nssv1433835,nssv1436029 M 31 23 0 ANKRD30A AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18997,NA18999 esv23694 10 37477659 37535427 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15813,esv20564 M 451 4 22 ANKRD30A NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18858,NA18909,NA19108,NA19114,NA19129,NA19147,NA19257 nsv8616 10 37482743 37530033 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23366,nssv18787,nssv16990,nssv16631,nssv18705,nssv20773,nssv17045,nssv18496,nssv19053,nssv17906,nssv19149,nssv18817,nssv18735,nssv21531,nssv17792,nssv16879,nssv18795,nssv17015,nssv18235,nssv19658,nssv18380,nssv18876,nssv18244 M 31 1 18 Samples from several populations that are part of the HapMap project. ANKRD30A NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18537,NA18552,NA18572,NA18853,NA18860,NA18980,NA19007,NA19221 nsv6410 10 37485138 37507450 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10753,nssv9793,nssv6364,nssv5285 M 9 4 0 ANKRD30A NA12156,NA18507,NA18956,NA19129 esv1003057 10 37491190 37524259 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586379 S 3 0 1 ANKRD30A HuRef nsv820758 10 37491270 37523192 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420861 S 1 1 0 ANKRD30A NA10851 nsv819536 10 37495260 37522560 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418916 S 2 1 0 ANKRD30A AK1 esv995125 10 37496221 37507950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572388 S 3 0 1 ANKRD30A HuRef nsv514553 10 37500640 37506240 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627090 S 1414 0 0 ANKRD30A nsv508577 10 37508284 37520054 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617378 S 4 0 1 ANKRD30A CHM nsv6421 10 37512168 37528809 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1891,nssv6375 M 9 2 0 ANKRD30A NA12156,NA18555 nsv514554 10 37513724 37522660 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627091 S 1414 0 0 ANKRD30A nsv819914 10 37546704 37549806 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419509 S 2 0 1 ANKRD30A AK1 nsv6432 10 37562185 37596620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3873 S 9 1 0 "" NA12878 esv2750892 10 37565600 37773387 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984993,essv6990057,essv6990058,essv6984995,essv6984994 M 771 0 1 "" SPC_3 esv1000586 10 37656206 37660761 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563666 S 3 0 1 "" HuRef esv25008 10 37734912 37736079 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19092 S 451 0 1 "" NA12749 nsv895030 10 37755743 38714615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598411 S 6533 0 1 HSD17B7P2,LOC100129055,MTRNR2L7,SEPT7L,ZNF248,ZNF25,ZNF33A,ZNF37A IS40801 nsv8617 10 37855807 37917337 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21614,nssv23424 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19221 dgv24n17 10 37856516 37880205 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437664,nsv437665 M 60 0 2 "" NA18500,NA18872 esv25588 10 37856556 37863431 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15909 S 451 0 2 "" NA18517,NA19108 nsv438168 10 37857888 37858922 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470270,nssv470272,nssv470269,nssv470271 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18871,NA18872 esv2421915 10 37858207 37861995 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5021186,essv5150550,essv5148348,essv5137077,essv5146634,essv5161056,essv5105268,essv5021713,essv5080944,essv5043446,essv5044792,essv5015000,essv5130364,essv5125965,essv5131802,essv5064665,essv5112233,essv5125643,essv5136538,essv5138063,essv5053700,essv5121310,essv5014513,essv5032151,essv5114180,essv5092726,essv5099018,essv5115579,essv5116114,essv5032259,essv5014091,essv5119343,essv5097485,essv5009207,essv5014398,essv5110597,essv5111366,essv5047409,essv5101553,essv5122034,essv5134909,essv5052617,essv5012761,essv5103627,essv5062973,essv5046324,essv5105683,essv5128933,essv5160444,essv5112253,essv5095710,essv5143540,essv5036125,essv5114001,essv5039424,essv5007377,essv5123743,essv5032227,essv5131311,essv5075349,essv5121007,essv5147808,essv5122435,essv5028229,essv5056549,essv5091110,essv5159714,essv5034474,essv5053356,essv5116126,essv5115879,essv5029438,essv5072923,essv5075916,essv5110525,essv5141883,essv5064547,essv5143481,essv5147374 M 1184 0 79 "" NA18487,NA18497,NA18498,NA18500,NA18501,NA18517,NA18518,NA18520,NA18859,NA18862,NA18863,NA18871,NA18872,NA18912,NA18914,NA19028,NA19031,NA19095,NA19102,NA19103,NA19108,NA19109,NA19143,NA19149,NA19150,NA19151,NA19153,NA19179,NA19180,NA19197,NA19199,NA19201,NA19202,NA19221,NA19222,NA19238,NA19314,NA19316,NA19319,NA19360,NA19376,NA19379,NA19393,NA19431,NA19445,NA19466,NA19714,NA19776,NA19916,NA19918,NA20282,NA20301,NA20302,NA20334,NA20335,NA20344,NA21317,NA21336,NA21353,NA21368,NA21403,NA21404,NA21414,NA21418,NA21435,NA21438,NA21447,NA21476,NA21486,NA21487,NA21574,NA21575,NA21617,NA21647,NA21648,NA21693,NA21722,NA21768,NA21826 nsv507550 10 37860812 37866812 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617801,nssv623107,nssv620539,nssv619115 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv271883 10 37950773 37951098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515055,essv2519373,essv2513664 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12812 dgv244e1 10 37971818 37998918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21363,esv1281,esv1216,essv12866 M 271 0 0 "" NA10860,NA18502 nsv6443 10 37989710 38035276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6386 S 9 0 1 "" NA12156 esv270736 10 38150120 38150436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494287,essv2508919,essv2507329,essv2501433,essv2504820,essv2493854,essv2512157,essv2498085 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18522,NA18912,NA19093,NA19099,NA19210,NA19238,NA19240 esv274331 10 38150131 38150424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584295,essv2583648 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1183366 10 38173930 38173930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277894 S 2 1 0 ZNF248 HuRef nsv6454 10 38189170 38224169 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv846 S 9 1 0 "" NA19240 nsv24751 10 38235007 38236244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43329 M 24 "" esv2558933 10 38312004 38312160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239903 S 1 0 1 "" NA18507 nsv6465 10 38417668 38462131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4623 S 9 0 1 ZNF37A NA19129 esv997851 10 38441509 38445497 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563730 S 3 1 0 ZNF37A HuRef nsv895031 10 38442795 38504892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549207 S 6533 1 0 LOC100129055,ZNF37A MS18130 nsv895032 10 38467714 38538915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552450 S 6533 0 1 LOC100129055 MS19437 nsv895033 10 38472354 38577076 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549561,nssv1564240 M 6533 1 1 LOC100129055 IS30191,MS18267 nsv524757 10 38485008 38491647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700748 S 2026 0 1 "" esv33710 10 38585904 38711295 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97338 S 51 0 1 HSD17B7P2 21879 nsv895034 10 38672358 38783551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520889 S 6533 1 0 HSD17B7P2,LOC399744,SEPT7L SP51292 nsv428230 10 38692007 38858841 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451814 S 62 0 1 HSD17B7P2,LOC399744,SEPT7L NA18916 essv18036 10 38717029 38996885 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC399744,SEPT7L NA06993 dgv245e1 10 38717029 39194941 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv503,esv685 M 271 ACTR3BP5,LOC399744,SEPT7L nsv895036 10 38718947 38781106 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504737,nssv1516840,nssv1518896,nssv1504366,nssv1515123 M 6533 4 1 LOC399744,SEPT7L SP52439,SP52717,SP56125,SP56959,SP58556 dgv636n71 10 38718947 38781783 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895037,nsv895035 M 6533 2 0 LOC399744,SEPT7L SP50921,SP56975 nsv895038 10 38718947 38930246 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534265 S 6533 1 0 LOC399744,SEPT7L MS11497 nsv821215 10 38733715 38812330 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420862 S 1 0 1 LOC399744 NA10851 esv29065 10 38733715 38858628 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15082,esv16395,esv19338 M 451 3 26 LOC399744 NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18523,NA18861,NA18907,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225,NA19240 nsv895039 10 38740240 38779563 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503986,nssv1506514 M 6533 1 1 LOC399744 SP52147,SP54367 dgv637n71 10 38740240 38781783 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895041,nsv895040 M 6533 22 0 LOC399744 SP50574,SP50766,SP50783,SP51436,SP52027,SP52234,SP52470,SP52531,SP52716,SP52729,SP53528,SP54127,SP55160,SP56789,SP56816,SP56833,SP56913,SP56927,SP57640,SP57874,SP58557,SP80953 nsv895042 10 38740240 38815211 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516216,nssv1504552 M 6533 1 1 LOC399744 SP52588,SP56549 nsv895043 10 38740240 38830434 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511985 S 6533 1 0 LOC399744 SP55219 nsv895044 10 38765013 38781106 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515431,nssv1504426,nssv1516749,nssv1518424,nssv1518936,nssv1516543,nssv1500626,nssv1504392,nssv1518578 M 6533 6 3 LOC399744 SP50027,SP52455,SP52475,SP56196,SP56856,SP56926,SP57553,SP57754,SP58581 nsv895045 10 38765013 38781783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500469 S 6533 0 1 LOC399744 SP50593 esv1007625 10 38777800 38780270 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586695 S 3 0 1 LOC399744 HuRef esv1460923 10 38794727 38794727 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969295 S 2 1 0 "" HuRef nsv820427 10 38812331 38858628 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420863 S 1 1 0 "" NA10851 esv6163 10 38814539 38816470 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28604 S 1 0 1 "" SJK esv4010 10 38822207 38857922 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26451 S 1 0 0 Single Asian sample YH "" YH esv1586358 10 38843201 38843311 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885749 S 2 0 1 "" HuRef nsv436041 10 38857273 38857686 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466571 S 2 1 0 "" NA15510 esv7268 10 38858001 38858348 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29709 S 1 0 1 "" SJK dgv246e1 10 38908842 39194941 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1228,essv12221,essv8244,essv5348,essv11569,essv17287,essv15297 M 271 0 0 ACTR3BP5 NA18563,NA18856,NA18862,NA18995,NA19101,NA19116,NA19173 esv26671 10 38908873 39194693 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10496,esv18050,esv17730,esv18301,esv18598,esv15473,esv16411,esv20988 M 451 6 38 ACTR3BP5 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2431001 10 38909113 38914210 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199196 S 1 0 1 "" NA18507 nsv510989 10 38909307 39025852 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624338,nssv622400 M 4 0 0 "" NA10860,NA18994 esv7388 10 38916720 38917392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29829 S 1 0 1 "" SJK esv7395 10 38918598 38927539 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29836 S 1 0 1 "" SJK esv1040402 10 38927227 38927227 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881583 S 2 1 0 "" HuRef nsv820938 10 38928865 39116670 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420864 S 1 1 0 ACTR3BP5 NA10851 nsv831833 10 38942641 39116217 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448347 S 95 0 1 ACTR3BP5 essv19062 10 38949186 39018686 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11830 nsv8618 10 38958880 38968899 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19179 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv8619 10 38971109 39018833 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20862 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv831834 10 38975626 39012541 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448350,nssv1448349,nssv1448348,nssv1448352 M 95 1 3 "" nsv469653 10 38983842 39172686 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649581 M 265 0 0 Samples from several populations that are part of the HapMap project. ACTR3BP5 nsv831835 10 38998787 39116217 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448364,nssv1448361,nssv1448368,nssv1448355,nssv1448363,nssv1448356,nssv1448367,nssv1448366,nssv1448358,nssv1448365,nssv1448354,nssv1448353,nssv1448360,nssv1448359,nssv1448357 M 95 1 14 ACTR3BP5 nsv831837 10 38998787 39116217 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448370,nssv1448371,nssv1448369 M 95 3 0 ACTR3BP5 nsv507551 10 39006974 39012974 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623114 S 4 1 0 "" NA18994 nsv8620 10 39018645 39077046 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19113,nssv19143,nssv18825 M 31 1 1 Samples from several populations that are part of the HapMap project. ACTR3BP5 NA07048,NA18537 essv18206 10 39031996 39194941 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12057 nsv831838 10 39058197 39102696 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448372,nssv1448375,nssv1448374 M 95 3 0 "" nsv8621 10 39089262 39103652 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17020 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv821087 10 39116671 39194693 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420865 S 1 1 0 "" NA10851 esv1179201 10 39117537 39117537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920293 S 2 1 0 "" HuRef esv8185 10 39118868 39134617 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30626 S 1 0 1 "" SJK dgv4e19 10 39118870 39163571 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7994,esv7501 M 1 0 0 "" SJK esv1663071 10 39119282 39119442 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165039 S 2 0 1 "" HuRef esv4151 10 39119681 39165907 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26592 S 1 0 0 Single Asian sample YH "" YH dgv5e19 10 39122389 39149580 CNV Loss Ahn et al 2009 19470904 Sequencing esv7162,esv8360,esv7098 M 1 0 1 "" SJK esv7967 10 39122392 39127523 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30408 S 1 0 1 "" SJK dgv6e19 10 39122599 39193235 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv6673,esv8425,esv6792,esv7422,esv5509,esv9633,esv6413,esv8834 M 1 0 0 "" SJK dgv7e19 10 39125995 39181973 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5664,esv9634,esv9404,esv7936,esv7184 M 1 0 0 "" SJK esv7425 10 39125997 39134609 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29866 S 1 0 1 "" SJK esv3275 10 39126137 39128608 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25716 S 1 0 0 Single Asian sample YH "" YH esv4247 10 39127360 39137364 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26688 S 1 0 0 Single Asian sample YH "" YH esv3845 10 39128486 39134872 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26286 S 1 0 0 Single Asian sample YH "" YH dgv8e19 10 39133394 39163574 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv6627,esv7677 M 1 0 0 "" SJK esv9671 10 39134360 39151079 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32112 S 1 0 1 "" SJK esv3440 10 39136365 39141606 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25881 S 1 0 0 Single Asian sample YH "" YH esv2853 10 39138415 39141321 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25294 S 1 0 0 Single Asian sample YH "" YH esv4872 10 39139449 39194861 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27313 S 1 0 0 Single Asian sample YH "" YH dgv9e19 10 39139462 39151265 CNV Loss Ahn et al 2009 19470904 Sequencing esv7561,esv7657 M 1 0 1 "" SJK dgv10e19 10 39145241 39161428 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv8652,esv7946 M 1 0 0 "" SJK dgv11e19 10 39148760 39190869 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5565,esv8907 M 1 0 0 "" SJK esv7189 10 39152814 39178156 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29630 S 1 0 0 "" SJK dgv12e19 10 39154357 39193744 CNV Loss Ahn et al 2009 19470904 Sequencing esv8616,esv6260,esv6233 M 1 0 1 "" SJK esv3703 10 39160424 39180112 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26144 S 1 0 0 Single Asian sample YH "" YH esv5781 10 39160560 39181230 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28222 S 1 0 1 "" SJK esv9219 10 39161483 39163572 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31660 S 1 0 1 "" SJK esv5737 10 39168939 39189086 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28178 S 1 0 1 "" SJK esv5286 10 39176390 39177514 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27727 S 1 0 0 Single Asian sample YH "" YH esv4004 10 39176392 39190871 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26445 S 1 0 0 Single Asian sample YH "" YH esv7462 10 39178193 39178824 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29903 S 1 0 1 "" SJK esv1003224 10 41674981 41712951 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586158 S 3 0 1 "" HuRef esv22224 10 41674981 41716562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14242 S 451 0 34 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820572 10 41674981 41718236 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420866 S 1 1 0 "" NA10851 esv4487 10 41675014 41702887 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26928 S 1 0 0 Single Asian sample YH "" YH dgv13e19 10 41675374 41702719 CNV Loss Ahn et al 2009 19470904 Sequencing esv6338,esv8769,esv8665,esv8830,esv7622,esv7235,esv7049,esv9480 M 1 0 1 "" SJK nsv438169 10 41676549 41685682 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470273,nssv470281,nssv470282,nssv470283,nssv470279,nssv470278,nssv470276,nssv470277,nssv470275,nssv470280 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA10830,NA10856,NA10857,NA10860,NA11829,NA11992,NA12043,NA12236,NA12740,NA12751 dgv25n17 10 41676549 41717935 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437115,nsv437114,nsv437666,nsv437667,nsv437112,nsv437111 M 60 0 6 "" NA10830,NA10856,NA10860,NA12740,NA18854,NA19129 esv6123 10 41678849 41680682 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28564 S 1 0 1 "" SJK dgv14e19 10 41681933 41700251 CNV Loss Ahn et al 2009 19470904 Sequencing esv5619,esv5486,esv8833,esv7641,esv8595,esv9613,esv7203 M 1 0 1 "" SJK esv9515 10 41682053 41694261 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31956 S 1 0 1 "" SJK esv7578 10 41683897 41684754 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30019 S 1 0 1 "" SJK esv6758 10 41685113 41685224 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29199 S 1 1 0 "" SJK esv8842 10 41689347 41694202 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31283 S 1 0 1 "" SJK dgv15e19 10 41689642 41699887 CNV Loss Ahn et al 2009 19470904 Sequencing esv6576,esv7976 M 1 0 1 "" SJK esv6942 10 41694293 41699813 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29383 S 1 0 1 "" SJK esv1060839 10 41695907 41695907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856098 S 2 1 0 "" HuRef dgv16e19 10 41696387 41701656 CNV Loss Ahn et al 2009 19470904 Sequencing esv7983,esv7659,esv8668 M 1 0 1 "" SJK dgv17e19 10 41697590 41699907 CNV Loss Ahn et al 2009 19470904 Sequencing esv6454,esv7330 M 1 0 1 "" SJK esv5467 10 41698722 41699508 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27908 S 1 0 1 "" SJK esv2503552 10 41699875 41699986 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269176 S 1 0 0 "" NA18507 esv6036 10 41699942 41700610 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28477 S 1 0 1 "" SJK esv5497 10 41699946 41700065 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27938 S 1 1 0 "" SJK esv5451 10 41700292 41702456 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27892 S 1 0 1 "" SJK esv7636 10 41700617 41701657 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30077 S 1 0 1 "" SJK esv2557595 10 41701481 41701945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231861 S 1 0 1 "" NA18507 esv8505 10 41701514 41702110 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30946 S 1 0 1 "" SJK esv2543264 10 41702514 41702602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320374 S 1 0 1 "" NA18507 esv2612373 10 41703353 41703499 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385588 S 1 0 1 "" NA18507 esv2576711 10 41703413 41703582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208589 S 1 0 1 "" NA18507 esv5982 10 41703674 41705153 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28423 S 1 0 1 "" SJK dgv18e19 10 41704228 41716872 CNV Loss Ahn et al 2009 19470904 Sequencing esv7781,esv6614,esv7937,esv8593,esv9450,esv8274,esv8042,esv8397,esv7614,esv5485,esv9116,esv5975,esv8424 M 1 0 1 "" SJK esv6529 10 41704341 41707266 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28970 S 1 0 1 "" SJK esv4157 10 41704531 41717077 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26598 S 1 0 0 Single Asian sample YH "" YH dgv19e19 10 41704763 41714077 CNV Loss Ahn et al 2009 19470904 Sequencing esv6357,esv5779,esv7335,esv8993,esv8576,esv7964,esv6548,esv6235 M 1 0 1 "" SJK esv2579664 10 41704765 41704915 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216902 S 1 0 1 "" NA18507 esv6660 10 41705133 41710701 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29101 S 1 0 1 "" SJK esv2489023 10 41705156 41705276 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381902 S 1 0 0 "" NA18507 dgv30n16 10 41705208 41705551 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435933,nsv436783 M 2 2 0 "" NA15510,NA18505 esv2518283 10 41705305 41705649 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356782 S 1 0 1 "" NA18507 esv2642477 10 41705432 41705528 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178371 S 1 0 1 "" NA18507 esv8538 10 41705611 41709422 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30979 S 1 0 1 "" SJK esv8491 10 41705629 41707284 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30932 S 1 0 1 "" SJK esv2505416 10 41705702 41706168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382620 S 1 0 1 "" NA18507 dgv15n6 10 41705738 41707293 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv24247,nsv24356 M 24 "" esv2429168 10 41705884 41706204 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196811 S 1 0 1 "" NA18507 nsv436817 10 41705928 41712074 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466576 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2552286 10 41706022 41706203 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196427 S 1 0 1 "" NA18507 esv2484002 10 41706033 41706361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185523 S 1 0 1 "" NA18507 nsv24990 10 41706104 41706282 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43568 M 24 "" esv2490287 10 41706568 41706838 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310060 S 1 0 1 "" NA18507 esv2580055 10 41706624 41706675 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254592 S 1 0 1 "" NA18507 dgv20e19 10 41706656 41711835 CNV Loss Ahn et al 2009 19470904 Sequencing esv9680,esv9629,esv8445 M 1 0 1 "" SJK dgv21e19 10 41706811 41714461 CNV Loss Ahn et al 2009 19470904 Sequencing esv7474,esv6053,esv9418,esv6150,esv7716 M 1 0 1 "" SJK dgv22e19 10 41707076 41716413 CNV Loss Ahn et al 2009 19470904 Sequencing esv8001,esv7527 M 1 0 1 "" SJK esv2620028 10 41707356 41707596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229021 S 1 0 1 "" NA18507 esv2471430 10 41707466 41707764 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278625 S 1 0 1 "" NA18507 esv2538935 10 41707636 41708107 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247552 S 1 0 1 "" NA18507 esv8501 10 41708124 41710312 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30942 S 1 0 1 "" SJK esv8646 10 41708874 41710313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31087 S 1 0 1 "" SJK esv6579 10 41709104 41712676 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29020 S 1 0 1 "" SJK esv2650989 10 41709237 41709415 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347495 S 1 0 1 "" NA18507 dgv23e19 10 41709504 41716860 CNV Loss Ahn et al 2009 19470904 Sequencing esv7503,esv6349,esv7951 M 1 0 1 "" SJK dgv24e19 10 41709557 41711842 CNV Loss Ahn et al 2009 19470904 Sequencing esv8469,esv7247 M 1 0 1 "" SJK esv8685 10 41710410 41713561 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31126 S 1 0 1 "" SJK nsv436775 10 41710481 41720149 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466577 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436012 10 41710704 41712971 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466578 S 2 1 0 "" NA15510 esv6675 10 41710783 41712636 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29116 S 1 0 1 "" SJK esv2459547 10 41710903 41711042 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295071 S 1 0 1 "" NA18507 dgv25e19 10 41711327 41716620 CNV Loss Ahn et al 2009 19470904 Sequencing esv6585,esv5921,esv8570,esv7547 M 1 0 1 "" SJK dgv26e19 10 41711536 41714449 CNV Loss Ahn et al 2009 19470904 Sequencing esv6230,esv5468 M 1 0 1 "" SJK dgv2e197 10 41711904 41712050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2478771,esv2605867 M 1 0 1 "" NA18507 esv2628535 10 41712066 41712215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181775 S 1 0 1 "" NA18507 esv2584865 10 41712173 41712610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233148 S 1 0 1 "" NA18507 esv2524773 10 41712539 41712610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241641 S 1 0 1 "" NA18507 esv2576810 10 41712719 41712858 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369740 S 1 0 1 "" NA18507 esv2448177 10 41712735 41713105 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303666 S 1 0 1 "" NA18507 dgv27e19 10 41712784 41716014 CNV Loss Ahn et al 2009 19470904 Sequencing esv6126,esv8452 M 1 0 1 "" SJK nsv24136 10 41713150 41714250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42714 M 24 "" dgv3e197 10 41713262 41713409 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2529537,esv2596149 M 1 0 1 "" NA18507 esv9225 10 41713848 41717097 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31666 S 1 0 1 "" SJK nsv436045 10 41714317 41981582 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466579 S 2 1 0 "" NA15510 esv5872 10 41714549 41716105 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28313 S 1 0 1 "" SJK esv2643773 10 41714807 41714952 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242091 S 1 0 1 "" NA18507 esv1301156 10 41714886 41716592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680601 S 2 0 1 "" HuRef esv2585378 10 41715211 41715563 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383029 S 1 0 1 "" NA18507 esv8688 10 41715557 41716697 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31129 S 1 0 1 "" SJK esv2461157 10 41715797 41716061 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198927 S 1 0 1 "" NA18507 nsv436784 10 41716145 41716341 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466580 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2591418 10 41716514 41716907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232714 S 1 0 1 "" NA18507 esv2587841 10 41716819 41716960 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243928 S 1 0 0 "" NA18507 esv2652243 10 41716998 41717144 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354844 S 1 0 1 "" NA18507 esv1431930 10 41717849 41718189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235289 S 2 0 1 "" HuRef esv9689 10 41718013 41719045 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32130 S 1 0 1 "" SJK esv6578 10 41718690 41729222 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29019 S 1 0 1 "" SJK esv6432 10 41718693 41720389 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28873 S 1 0 1 "" SJK esv4357 10 41718697 41720692 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26798 S 1 0 0 Single Asian sample YH "" YH esv9268 10 41719033 41721832 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31709 S 1 0 1 "" SJK esv2912 10 41719450 41728204 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25353 S 1 0 0 Single Asian sample YH "" YH dgv28e19 10 41719487 41724677 CNV Loss Ahn et al 2009 19470904 Sequencing esv8628,esv7957 M 1 0 1 "" SJK dgv1e3 10 41719678 41859043 CNV Complex Wang et al 2008 18987735 Sequencing esv3149,esv4174 M 1 0 0 "" YH esv7254 10 41719740 41723115 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29695 S 1 0 1 "" SJK esv7071 10 41722047 41724400 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29512 S 1 0 1 "" SJK esv7236 10 41723163 41728283 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29677 S 1 0 1 "" SJK esv5294 10 41728933 41729703 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27735 S 1 0 0 Single Asian sample YH "" YH esv1121690 10 41738577 41738577 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130035 S 2 1 0 "" HuRef dgv247e1 10 41753546 42249122 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5855,esv625,esv846 M 271 0 0 LOC441666 NA18555 esv1781190 10 41814996 41814996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943150 S 2 1 0 "" HuRef nsv524861 10 41815334 41823188 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700866 S 2026 0 1 "" esv4801 10 41846040 41854797 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27242 S 1 0 0 Single Asian sample YH "" YH esv7337 10 41848081 41852165 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29778 S 1 0 1 "" SJK esv8311 10 41848273 41849168 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30752 S 1 0 1 "" SJK dgv31n16 10 41849319 41850969 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436818,nsv436040 M 2 2 0 "" NA15510,NA18505 esv9581 10 41849460 41851578 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32022 S 1 0 1 "" SJK esv9259 10 41849628 41850637 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31700 S 1 0 1 "" SJK dgv29e19 10 41849854 41859721 CNV Loss Ahn et al 2009 19470904 Sequencing esv9248,esv6049 M 1 0 1 "" SJK dgv30e19 10 41849960 41854724 CNV Loss Ahn et al 2009 19470904 Sequencing esv9533,esv6063 M 1 0 1 "" SJK dgv2e3 10 41850060 41851088 CNV Complex Wang et al 2008 18987735 Sequencing esv4529,esv3168,esv4754 M 1 0 0 "" YH esv9145 10 41850669 41852128 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31586 S 1 0 1 "" SJK esv8525 10 41851540 41851916 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30966 S 1 0 1 "" SJK esv2968 10 41852616 41854109 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25409 S 1 0 0 Single Asian sample YH "" YH esv6335 10 41852958 41854694 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28776 S 1 0 1 "" SJK esv22496 10 41852994 41866576 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16577 S 451 6 0 "" NA07045,NA12004,NA12414,NA15510,NA18523,NA19129 esv3105 10 41853092 41858992 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25546 S 1 0 0 Single Asian sample YH "" YH esv1518063 10 41853651 41854329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834808 S 2 0 1 "" HuRef nsv436011 10 41916695 41916810 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466586 S 2 1 0 "" NA15510 nsv436013 10 41916809 41916863 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466587 S 2 1 0 "" NA15510 nsv435934 10 41917092 41917540 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466589 S 2 1 0 "" NA15510 esv9566 10 41917215 41919263 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32007 S 1 0 1 "" SJK esv995326 10 41917453 41922157 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586289 S 3 0 1 "" HuRef esv2587133 10 41917712 41918157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311066 S 1 0 1 "" NA18507 esv2503406 10 41917934 41921351 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337354 S 1 0 1 "" NA18507 esv2539320 10 41917938 41918340 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379727 S 1 0 1 "" NA18507 nsv436042 10 41918023 41919349 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466590 S 2 1 0 "" NA15510 esv7529 10 41918562 41919339 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29970 S 1 0 1 "" SJK esv6652 10 41919390 41919850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29093 S 1 0 1 "" SJK nsv436785 10 41919761 41919951 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466591 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv470932 10 41934566 42234611 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544846 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC441666 HGDP00551 nsv433409 10 41934595 42161697 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463290 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC441666 NA19240 nsv831839 10 41973206 42199680 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448376 S 95 0 1 LOC441666 esv24620 10 41981839 41987106 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13182,esv17293 M 451 0 2 "" NA11995,NA12044 esv1702715 10 41982177 41982177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086815 S 2 1 0 "" HuRef esv7222 10 41982582 41987142 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29663 S 1 0 1 "" SJK esv1000556 10 41983177 41987417 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586134 S 3 0 1 "" HuRef esv1476221 10 41992881 41992945 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204221 S 2 0 1 "" HuRef nsv6476 10 41993659 42063372 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9794,nssv5287,nssv1892,nssv10754,nssv9466 M 9 0 5 "" NA18507,NA18517,NA18555,NA18956,NA19129 essv15292 10 42004899 42199692 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC441666 NA18862 esv1994051 10 42006127 42006514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827622 S 1 0 1 "" NA18507 nsv508578 10 42008611 42039093 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622663 S 4 0 1 "" NA18994 dgv7n68 10 42009772 42104807 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831841,nsv831840 M 95 0 4 "" nsv8622 10 42015157 42032237 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17050 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 dgv7n47 10 42021557 42036800 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498726,nsv498725 M 9 0 2 "" nsv895046 10 42028904 42284213 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535647 S 6533 1 0 LOC441666 MS12347 esv25132 10 42030550 42057702 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9842 S 451 4 0 "" NA12239,NA15510,NA18502,NA18861 nsv514555 10 42035060 42036524 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627092 S 1414 0 0 "" nsv8623 10 42059439 42095300 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20892 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv509352 10 42061882 42090446 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623632 S 4 1 0 "" NA18994 dgv638n71 10 42063773 42284213 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895050,nsv895048,nsv895047,nsv895053,nsv895055,nsv895049,nsv895061,nsv895063,nsv895062,nsv895067,nsv895066,nsv895052 M 6533 18 0 LOC441666 IS38610,MS11135,MS13257,MS16158,MS18123,MS24584,MS24600,SP51143,SP52493,SP53347,SP54838,SP57201,SP57355,SP57610,SP58218,SP80980,SP81191,SP81213 nsv6487 10 42063805 42097579 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8626 S 9 1 0 "" NA12156 dgv639n71 10 42081937 42230453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895057,nsv895051 M 6533 0 2 LOC441666 IS30311,SP51450 nsv895054 10 42081937 42388847 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596553 S 6533 1 0 LOC441666,LOC84856,ZNF37BP IS40558 dgv640n71 10 42103487 42234611 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895060,nsv895058,nsv895059,nsv895056 M 6533 4 0 LOC441666 MS10109,MS11171,SP55569,SP57044 nsv895064 10 42103487 42563331 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520740 S 6533 1 0 LOC441666,LOC84856,ZNF33B,ZNF37BP SP51235 esv23189 10 42110672 42137188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17518 S 451 0 39 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv3507 10 42111322 42136457 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25948 S 1 0 0 Single Asian sample YH "" YH esv8136 10 42111329 42129400 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30577 S 1 0 1 "" SJK nsv895065 10 42114131 42197587 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531825 S 6533 1 0 LOC441666 MS10666 dgv78n27 10 42114131 42267633 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466874,nsv466875,nsv466876 M 1557 3 0 LOC441666 HGDP00546,HGDP00551,HGDP00785 nsv466877 10 42114131 42386420 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542329 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC441666,LOC84856,ZNF37BP HGDP00764 esv1782062 10 42122119 42122184 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039609 S 2 0 1 "" HuRef nsv895068 10 42140812 42267633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503243 S 6533 1 0 LOC441666 SP52017 nsv895069 10 42168074 42227207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539543 S 6533 0 1 LOC441666 MS14359 nsv471665 10 42172466 42326672 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549514 S 48 1 0 LOC441666,LOC84856 NA17058 dgv641n71 10 42175383 42267633 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895072,nsv895070 M 6533 2 0 LOC441666 MS10106,SP50772 nsv433411 10 42178160 42273587 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463292 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC441666 NA18555 dgv79n27 10 42180048 42245493 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466879,nsv466878 M 1557 2 0 LOC441666 1780862358_A,NINDS_211 nsv895071 10 42184144 42386420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552607,nssv1547391,nssv1545112,nssv1547339 M 6533 0 4 LOC84856,ZNF37BP MS16677,MS17321,MS17363,MS19529 esv1000931 10 42186343 42189500 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565330 S 3 0 1 "" HuRef nsv895073 10 42204175 42386511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542091 S 6533 1 0 LOC84856,ZNF37BP MS15637 dgv642n71 10 42217616 42267633 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895074,nsv895075 M 6533 2 0 "" SP51477,SP55569 nsv825348 10 42220572 42229618 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428108 S 31 0 1 "" NA18968 esv2328272 10 42262591 42266285 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658160 S 1 0 1 "" NA18507 nsv469725 10 42285136 42498329 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649746 M 265 2 0 Samples from several populations that are part of the HapMap project. LOC84856,ZNF33B,ZNF37BP dgv248e1 10 42285137 42830197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv568,esv869,essv4747 M 271 0 0 BMS1,LOC84856,ZNF33B,ZNF37BP NA18620 nsv6498 10 42296584 42330056 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2845 S 9 1 0 LOC84856,ZNF37BP NA18555 esv270161 10 42328291 42328376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518834,essv2515145 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12812 esv28131 10 42347705 42349809 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21359 S 451 1 0 ZNF37BP NA19114 nsv8625 10 42366820 42372302 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20922 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF37BP NA18502 essv7677 10 42424074 42673001 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. BMS1,ZNF33B NA18620 esv34929 10 42436200 42649776 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979727,essv6979728,essv6979729,essv6979730,essv6988230 M 771 0 1 BMS1,ZNF33B NA18620 esv33252 10 42503824 42506478 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94979 S 51 0 1 "" 22231 dgv249e1 10 42524238 42830197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3290,essv18971,essv17770,essv413 M 271 0 0 BMS1 NA10831,NA12005,NA18971,NA18972 nsv517042 10 42526706 42554252 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674044,nssv653670 M 2026 2 0 "" nsv895076 10 42554438 42646633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596554 S 6533 1 0 BMS1 IS40558 nsv8626 10 42555543 42583647 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18265,nssv20803,nssv17105,nssv18526,nssv17110,nssv20952,nssv18906,nssv19209,nssv21561,nssv20218,nssv19688,nssv21627,nssv19239,nssv17784,nssv21923,nssv19169 M 31 0 15 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12155,NA12740,NA12802,NA18502,NA18504,NA18552,NA18860,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173 nsv825349 10 42558105 42585017 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428482 S 31 1 0 "" AK10 esv5026 10 42594154 42594662 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27467 S 1 0 1 Single Asian sample YH "" YH esv7672 10 42594216 42594560 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30113 S 1 0 1 "" SJK esv1506338 10 42594217 42594549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634285 S 2 0 1 "" HuRef esv29464 10 42621545 42675463 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14695,esv13569 M 451 2 0 BMS1 NA18858,NA19240 nsv8627 10 42644935 42674940 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18295,nssv20401,nssv17814,nssv17822 M 31 3 1 Samples from several populations that are part of the HapMap project. BMS1 NA07029,NA18975,NA18980,NA19240 esv32721 10 42648719 42650067 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92963,essv99834 M 51 0 2 BMS1 21939,22086 esv1505357 10 42663137 42663264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346186 S 2 0 1 "" HuRef nsv6509 10 42716528 42720082 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3874 S 9 1 0 "" NA12878 nsv895077 10 42772442 42826867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537112 S 6533 0 1 "" MS13095 nsv895078 10 42787398 42844528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538653 S 6533 0 1 "" MS13770 dgv643n71 10 42791581 42826867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895081,nsv895079 M 6533 0 2 "" IS38293,MS15835 nsv895080 10 42791581 42878763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533779 S 6533 0 1 "" MS11306 dgv644n71 10 42850077 43085491 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895082,nsv895083 M 6533 0 2 CSGALNACT2,RASGEF1A,RET MS16153,MS17208 esv23613 10 42867759 42868649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10005 S 451 0 1 "" NA06985 nsv522592 10 42894942 42935511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705982 S 2026 0 1 RET nsv825350 10 42912975 42913657 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441276 S 31 1 0 RET NA18969 nsv522566 10 42916734 42930677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705950 S 2026 0 1 RET esv275022 10 42933032 42940557 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585967,essv2586182 M 1250 1 1 RET nsv513008 10 42996905 42997374 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625665 S 1 1 0 CSGALNACT2 1 esv1015880 10 42997337 42997337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190510 S 2 1 0 CSGALNACT2 HuRef esv28818 10 42998904 43000782 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19129 S 451 1 0 CSGALNACT2 NA06985 nsv895084 10 43008511 43085491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530677 S 6533 0 1 RASGEF1A MS10311 nsv466881 10 43015055 43119594 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542332 S 1557 0 1 RASGEF1A 1780862444_A nsv895085 10 43015055 43124623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585916 S 6533 0 1 RASGEF1A IS37646 nsv825351 10 43034255 43108487 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439052 S 31 1 0 RASGEF1A NA18973 nsv825352 10 43038609 43040473 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441277 S 31 1 0 RASGEF1A NA18969 nsv895086 10 43051527 43087822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580873 S 6533 0 1 RASGEF1A IS35484 nsv895087 10 43103345 43302396 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530678 S 6533 0 1 FXYD4,HNRNPF,ZNF487P MS10311 nsv831842 10 43166547 43307507 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448381 S 95 0 1 FXYD4,HNRNPF,ZNF487P nsv521283 10 43186534 43192004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697885 S 2026 0 1 FXYD4 nsv895088 10 43192005 43323107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599412 S 6533 0 1 HNRNPF,ZNF487P IS41634 dgv146n67 10 43203424 43269942 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825356,nsv825354 M 31 2 0 HNRNPF,ZNF487P NA18969,NA18973 nsv825355 10 43210585 43243808 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426886 S 31 1 0 HNRNPF AK6 esv6684 10 43220514 43220597 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29125 S 1 1 0 HNRNPF SJK esv275081 10 43316719 43338938 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585188,essv2585429 M 1250 1 1 "" nsv522992 10 43430347 43434390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698662 S 2026 0 1 ZNF485 esv2437420 10 43457862 43459398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264763 S 1 0 1 ZNF32,ZNF32-OT1 NA18507 nsv24425 10 43495209 43495266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43003 M 24 "" esv270684 10 43512617 43512972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496600,essv2510584,essv2494223,essv2509783,essv2494960,essv2505994,essv2501017,essv2498452,essv2507236,essv2495660,essv2509477,essv2493516,essv2497488,essv2493900,essv2501877,essv2498017 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18501,NA18502,NA18508,NA18520,NA18523,NA18856,NA18858,NA18870,NA18916,NA19129,NA19137,NA19147,NA19210,NA19239,NA19240 esv273016 10 43512618 43512981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580602 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv512160 10 43523326 43525910 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624724 S 1 0 1 "" 1 esv2355182 10 43524322 43524718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506176 S 1 0 1 "" NA18507 esv23116 10 43524394 43526103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14193 S 451 0 12 "" NA11995,NA12287,NA12489,NA15510,NA18508,NA18858,NA18909,NA19108,NA19129,NA19147,NA19225,NA19240 esv2604925 10 43524418 43526011 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307140 S 1 0 1 "" NA18507 esv269946 10 43565055 43565140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515723 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv466884 10 43793042 43835136 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542334 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00790 nsv521308 10 43810420 43810538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697915 S 2026 0 1 "" esv269935 10 43919899 43920012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497178,essv2499995,essv2508308,essv2506386,essv2494404,essv2508189,essv2499221,essv2503465,essv2503722 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18558,NA18561,NA18566,NA18572,NA18579,NA18605,NA18947,NA18960 esv268100 10 43928706 43928867 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496492,essv2506851,essv2498924 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA19102,NA19138 esv2256908 10 43995063 43995509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708000 S 1 0 1 "" NA18507 esv4432 10 43995126 43995426 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26873 S 1 0 1 Single Asian sample YH "" YH nsv24981 10 43995240 43995331 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43559 M 24 "" nsv508579 10 44029776 44119262 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618909 S 4 0 1 "" NA10860 nsv825357 10 44186653 44187278 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441279 S 31 1 0 CXCL12 NA18969 nsv895089 10 44194873 44200844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507079 S 6533 1 0 CXCL12 SP54468 dgv645n71 10 44194873 44204965 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895090,nsv895092,nsv895094 M 6533 3 0 CXCL12 SP52077,SP54761,SP56143 dgv646n71 10 44195046 44208136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895097,nsv895091 M 6533 0 2 CXCL12 SP54956,SP55021 dgv647n71 10 44196467 44206212 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895093,nsv895096 M 6533 0 2 CXCL12 SP54043,SP54672 nsv895095 10 44196592 44204965 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508967,nssv1506992,nssv1510810,nssv1507913 M 6533 2 2 CXCL12 SP54448,SP54650,SP54725,SP54988 nsv895098 10 44197507 44201208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511204 S 6533 0 1 CXCL12 SP55019 dgv648n71 10 44198120 44204965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895100,nsv895099 M 6533 0 2 CXCL12 SP54657,SP54782 esv1502414 10 44221315 44221623 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749366 S 2 0 1 "" HuRef nsv895101 10 44229087 44327137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541248 S 6533 1 0 "" MS15206 esv2422287 10 44364167 44577690 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161527 S 181 1 0 "" ND01757 esv25041 10 44380178 44382748 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19673,esv12780 M 451 0 2 "" NA07037,NA12239 nsv831843 10 44404709 44600038 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448382 S 95 1 0 "" esv2584008 10 44477501 44479156 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193643 S 1 0 1 "" NA18507 esv23830 10 44477955 44478505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18964 S 451 0 2 "" NA19129,NA19240 esv1992585 10 44477993 44478679 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558831 S 1 0 1 "" NA18507 esv1008851 10 44478126 44478475 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569147 S 3 0 1 "" HuRef esv1123725 10 44478160 44478460 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870303 S 2 0 1 "" HuRef esv1162781 10 44478481 44478531 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733059 S 2 0 1 "" HuRef nsv525947 10 44483574 44502322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702154 S 2026 0 1 "" nsv509353 10 44498001 44535555 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623635 S 4 1 0 "" NA18994 dgv21e55 10 44515191 44676600 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750895,esv2750893,esv2750894,esv2750896 M 771 4 0 LOC220980 BEC_428,BEC_554,BEC_675,BEC_830 dgv80n27 10 44523027 44689150 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466892,nsv466891,nsv466896,nsv466895,nsv466893,nsv466886,nsv466898,nsv466888,nsv466887,nsv466889,nsv466897,nsv466890 M 1557 12 0 LOC220980 1780854535_A,1780854573_A,1780854592_A,1780862090_A,1780862379_A,1780862392_A,HGDP00520,HGDP01253,HGDP01264,HGDP01362,HGDP01368,NINDS_40 dgv649n71 10 44528031 44688962 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895103,nsv895102 M 6533 2 0 LOC220980 IS34632,IS37909 nsv470933 10 44530696 44679489 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544850,nssv544849,nssv544852,nssv544847,nssv544851,nssv544848 M 443 6 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC220980 HGDP01253,HGDP01255,HGDP01261,HGDP01264,HGDP01282,HGDP01362 nsv517161 10 44530696 44736262 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660427,nssv655603,nssv662648,nssv688289,nssv680611,nssv693226,nssv684003,nssv694897,nssv677553,nssv683041,nssv683663,nssv691597,nssv653898,nssv667079,nssv691959,nssv665722,nssv663167 M 2026 16 1 LOC220980,TMEM72 nsv831844 10 44548797 44727768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448383 S 95 1 0 LOC220980,TMEM72 esv32821 10 44567720 44679788 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94668,essv101629,essv94496,essv97206,essv96062,essv96281 M 51 2 4 LOC220980 21791,21909,21932,22075,22127,22371 esv268787 10 44605272 44605427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510216,essv2503219,essv2511222,essv2500218,essv2496356,essv2493787,essv2512375,essv2504836,essv2499087,essv2511506 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11881,NA11931,NA12006,NA18510,NA18517,NA18949,NA19099,NA19114 nsv831845 10 44620274 44780401 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448385 S 95 1 0 LOC220980,RASSF4,TMEM72 nsv6521 10 44631187 44663870 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5288 S 9 1 0 LOC220980 NA19129 nsv24641 10 44641129 44641129 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43219 M 24 LOC220980 nsv831846 10 44642242 44876376 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448386 S 95 0 1 C10orf10,C10orf25,LOC220980,RASSF4,TMEM72,ZNF22 esv27175 10 44701524 44702005 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13704 S 451 0 1 LOC220980 NA18502 nsv466909 10 44728017 44766797 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542347 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC220980,TMEM72 HGDP01353 nsv818757 10 44740082 44751327 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417725 S 112 0 1 LOC220980,TMEM72 NA19003 nsv526734 10 44778491 44812060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703077 S 2026 0 1 C10orf10,RASSF4 nsv831848 10 44810182 44987676 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448388,nssv1448387 M 95 2 0 C10orf25,LOC100133308,LOC338579,MIR3156-1,ZNF22 esv2750897 10 44870151 45140142 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989984,essv6989985,essv6984567,essv6984566 M 771 0 1 LOC100133308,LOC338579,MIR3156-1,OR13A1 BEC_720 nsv510216 10 44917005 44923005 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618325,nssv621402,nssv624133 M 4 0 3 LOC100133308 CHM,NA15510,NA18994 dgv650n71 10 44956873 45035375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895104,nsv895106 M 6533 0 2 LOC100133308,LOC338579,MIR3156-1 IS41634,MS22146 nsv895105 10 44956873 45248828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535902 S 6533 1 0 ALOX5,LOC100133308,LOC338579,MIR3156-1,OR13A1 MS12542 nsv819571 10 44994735 44998709 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419597 S 2 1 0 LOC338579 AK1 esv2595492 10 45048113 45052282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328179 S 1 0 1 "" NA18507 esv1971984 10 45048598 45051840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784612 S 1 0 1 "" NA18507 esv28114 10 45048825 45051684 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19142 S 451 0 3 "" NA18517,NA19190,NA19225 nsv509354 10 45151790 45187734 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619646 S 4 1 0 "" NA10860 nsv825358 10 45166164 45166728 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441280 S 31 1 0 "" NA18969 nsv895107 10 45170306 45273773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546736 S 6533 0 1 ALOX5,MARCH8 MS17208 nsv466910 10 45198914 45218362 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542348 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALOX5 HGDP00869 dgv651n71 10 45198914 45600830 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895109,nsv895108 M 6533 2 0 ALOX5,ANUBL1,FAM21C,MARCH8 MS21905,SP51054 esv2567160 10 45211809 45211867 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172925 S 1 0 1 ALOX5 NA18507 nsv895110 10 45232777 45273773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573858,nssv1530679 M 6533 0 2 ALOX5,MARCH8 IS33504,MS10311 esv2513283 10 45246485 45247937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265959 S 1 0 1 ALOX5 NA18507 nsv895111 10 45309751 45391906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518595 S 6533 0 1 MARCH8 SP57779 nsv895112 10 45332626 45522222 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535903 S 6533 1 0 ANUBL1,MARCH8 MS12542 nsv6532 10 45332882 45348809 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv852 S 9 1 0 MARCH8 NA19240 dgv250e1 10 45341719 45544339 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20211,essv5083,essv24691,essv17882 M 271 0 0 ANUBL1,FAM21C,MARCH8 NA11829,NA11832,NA12003,NA18570 dgv251e1 10 45341719 45746970 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16540,essv24396,essv20280,essv19411 M 271 0 0 AGAP4,ANUBL1,FAM21C,MARCH8 NA11840,NA12144,NA12707,NA19210 dgv252e1 10 45341719 48101925 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21258,esv610,esv514,essv24106,essv18760,essv24184,essv21324 M 271 0 0 AGAP4,AGAP9,ANTXRL,ANUBL1,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GDF10,GDF2,GPRIN2,LOC642826,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,ZNF488 NA07048,NA07056,NA10855,NA12874,NA12878 nsv528750 10 45344626 45396241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705412 S 2026 0 1 MARCH8 dgv253e1 10 45364098 46575501 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20813,essv21583,essv20850,essv20482,essv6204,essv21600,essv21658,essv24173,essv14686,essv18506,essv23758,essv18012,essv13327,essv9583 M 271 0 0 AGAP4,ANUBL1,BMS1P1,BMS1P5,FAM21C,FAM35B,FRMPD2P1,GPRIN2,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15 NA10855,NA11829,NA11994,NA12146,NA12155,NA12249,NA12751,NA12761,NA12763,NA12878,NA18500,NA18501,NA18563,NA19145 esv2750898 10 45365767 47063957 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983536,essv6989807 M 771 0 1 AGAP4,AGAP9,ANUBL1,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15 BEC_667 dgv254e1 10 45368924 47212082 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5772,essv18571,essv23167,essv24317,essv18463,essv23725,essv18489,essv23639,essv707,essv18683 M 271 0 0 AGAP4,AGAP9,ANTXRL,ANUBL1,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,MARCH8,PPYR1,PTPN20A,PTPN20B,SYT15 NA07055,NA10831,NA10851,NA11832,NA11882,NA12056,NA12156,NA12813,NA18540,NA18940 nsv442178 10 45392881 45396237 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MARCH8 essv18092 10 45425616 46063691 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGAP4,ANUBL1,FAM21C,PTPN20A,PTPN20B NA12145 nsv516485 10 45429539 47932297 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652705,nssv681950,nssv657392,nssv670156,nssv687124,nssv684127,nssv689415,nssv657364,nssv678861,nssv693052,nssv675279,nssv686545,nssv665948,nssv661046,nssv679136,nssv686998,nssv654115,nssv658747,nssv686924,nssv667888,nssv658120,nssv693541,nssv684519,nssv652986,nssv684852,nssv678233,nssv678709,nssv661938,nssv692023,nssv658527,nssv683375,nssv662095,nssv652815,nssv673630,nssv659164,nssv688323,nssv669184,nssv686890,nssv663792,nssv675078,nssv672977,nssv667488,nssv656994,nssv666042,nssv674626,nssv685191,nssv664468,nssv677355,nssv652816,nssv660300,nssv683461,nssv689566,nssv661346,nssv655201,nssv659261,nssv679420,nssv659187,nssv687650,nssv672913,nssv676352,nssv667961,nssv655642,nssv687082,nssv677605,nssv680874,nssv675290,nssv652449,nssv690829,nssv676406,nssv671843,nssv681848,nssv684015,nssv681474,nssv669898,nssv676499,nssv671165,nssv663180,nssv686828,nssv674892,nssv652795,nssv667135,nssv692110,nssv655680,nssv669636,nssv664302,nssv661706,nssv683159,nssv678923,nssv677400,nssv688986,nssv657734,nssv668122,nssv653016,nssv680582,nssv665217,nssv667836,nssv654718,nssv671995,nssv654928,nssv675538,nssv688167,nssv653530,nssv686377,nssv660680,nssv692664,nssv664866,nssv658759,nssv659378,nssv679039,nssv674017,nssv651767,nssv672696,nssv690696,nssv685550,nssv691665,nssv657523,nssv690753,nssv662649,nssv665683,nssv691303,nssv660148,nssv657930,nssv655324,nssv653990,nssv663693,nssv680954,nssv680257,nssv704558,nssv682918,nssv661268,nssv662008,nssv657801,nssv660379,nssv680763,nssv653295,nssv683219,nssv667171,nssv682861,nssv652192,nssv656693,nssv653354,nssv652059,nssv690721,nssv656047,nssv684851,nssv685936,nssv688200,nssv666145,nssv673500,nssv656961,nssv665198,nssv688416,nssv688303,nssv660713,nssv679315,nssv656428,nssv676480,nssv665035,nssv660863,nssv678256,nssv678528,nssv675049,nssv690862,nssv672960,nssv665701,nssv656508,nssv676139,nssv672259,nssv673235,nssv660072,nssv691550,nssv668804,nssv665530,nssv660880,nssv692482,nssv674328,nssv677229,nssv691470,nssv668528,nssv687719,nssv689727,nssv668399,nssv664704,nssv655726,nssv657292,nssv678693,nssv681271,nssv666608,nssv657976,nssv653294,nssv658219,nssv676249,nssv652571,nssv677911,nssv653565,nssv690671,nssv671219,nssv663204,nssv661997,nssv655851,nssv668969,nssv654203,nssv663230,nssv663999,nssv673155,nssv688515,nssv674674,nssv668151,nssv655397,nssv687041,nssv673942,nssv665077,nssv680478 M 2026 169 44 AGAP4,AGAP9,ANTXRL,ANUBL1,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 nsv895113 10 45454019 45487853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499524 S 6533 0 1 ANUBL1 SP50649 dgv2e24 10 45477941 45478191 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750516,esv2750578 M 51 2 0 ANUBL1 21802,22086 nsv820051 10 45489599 45520858 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418718 S 2 1 0 "" AK1 nsv8628 10 45489966 45523180 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21657,nssv17936,nssv18325,nssv20982,nssv23452,nssv17212,nssv20833,nssv19217 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18563,NA18942,NA18980,NA19007,NA19132,NA19221 nsv819904 10 45520815 47839327 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418811 S 2 0 1 AGAP4,AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 AK1 nsv499498 10 45522942 45580247 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585493 S 9 0 0 FAM21C esv33964 10 45525725 45554746 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97472 S 51 0 1 FAM21C 21616 esv2750899 10 45530757 46557002 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988794,essv6984365,essv6984364 M 771 1 0 AGAP4,BMS1P1,BMS1P5,FAM21C,FAM35B,FRMPD2P1,GPRIN2,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 BEC_695 nsv895114 10 45536421 46795089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592669 S 6533 1 0 AGAP4,AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 IS39243 esv34875 10 45536421 47212100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980015,essv6980017,essv6980018,essv6986996,essv6986995,essv6990434,essv6980014,essv6980016 M 771 1 0 AGAP4,AGAP9,ANTXRL,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM21C,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 NA18940 nsv7202 10 45552535 45588729 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9795 S 9 0 0 FAM21C NA18507 esv23760 10 45581457 45635526 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13292,esv20621 M 451 3 1 FAM21C NA18523,NA18858,NA18909,NA19225 nsv895115 10 45604633 46138474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525236 S 6533 0 1 AGAP4,FAM21C,FRMPD2P1,PTPN20A,PTPN20B SP56377 nsv8629 10 45625050 45628105 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21591,nssv17966 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19007 nsv8630 10 45628687 45669394 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18355,nssv17242,nssv18556,nssv17996,nssv19247 M 31 0 5 Samples from several populations that are part of the HapMap project. AGAP4 NA18552,NA18563,NA18942,NA18980,NA19007 nsv895116 10 45668783 46060267 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531610 S 6533 1 0 PTPN20A,PTPN20B MS10567 nsv8631 10 45688698 45731131 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18026,nssv19277,nssv21621,nssv21651 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA18860,NA19007 nsv510991 10 45737063 48706495 OTHER Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621624,nssv622404,nssv621621,nssv624342,nssv622407,nssv624341 M 4 0 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GDF10,GDF2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,ZNF488 NA10860,NA15510,NA18994 nsv8632 10 45743850 45745047 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21681,nssv18056 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19007 dgv255e1 10 45896971 46174280 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22507,essv13018,essv21158,essv18271,essv21963,essv22770 M 271 0 0 BMS1P1,BMS1P5,FRMPD2P1,PTPN20A,PTPN20B NA07019,NA10846,NA11882,NA11995,NA12815,NA18859 dgv256e1 10 45896971 46738511 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20617,essv19974 M 271 0 0 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 NA07056,NA12813 dgv257e1 10 45896971 47972148 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv847,essv23992,essv24837,essv22388,essv10749,essv22562,essv15248,essv10488,essv23145,essv283,essv1599,essv1488,essv8429,essv3027,essv8854,essv2800,essv20242,essv5023,essv2590,essv37,essv12454,essv528,essv7564,essv2449,essv20798,essv22137,essv22059,essv1377,essv11258,essv3161,essv8752,essv4582,essv4839,essv15847,essv12214,essv24053,essv19204,essv8294,essv1238,essv8239,essv23237,essv6122,essv694,essv22465,essv13653,essv9443,essv9187,essv15037,essv10037,essv16847,essv10106,essv18651,essv11026,essv5267,essv15591,essv12317,essv14856,essv18186,essv13705,essv5414,essv3877,essv20643,essv16425,essv2528,essv23570,essv18989,essv21695,essv24814,essv13753,essv24250,essv22982,essv1762,essv11191,essv15768,essv20361,essv6396,essv12609,essv4454,essv5219,essv15495,essv11999,essv14369,essv10656,essv7297,essv5473,essv12808,essv22347,essv20173,essv5583,essv22627,essv6772,essv2676,essv7866,essv14434,essv18845,essv20331,essv4297,essv7001,essv22862,essv353,essv17734,essv16113,essv6371,essv4073,essv23806,essv6279,essv16358,essv1823,essv4981,essv15427,essv20900,essv19251,essv21033,essv13431,essv9334,essv23349,essv13849,essv4717,essv23030,essv24929,essv4196,essv23523,essv19429,essv10368,essv11455,essv24417,essv3469,essv4640,essv12424,essv23911,essv21170,essv11524,essv9149,essv6583,essv14129,essv9063,essv15333,essv17154,essv5715,essv24995,essv10552,essv18148,essv9800,essv2195,essv19687,essv13202,essv6662,essv10849,essv23846,essv19568,essv16804,essv17091,essv3223,essv15706,essv12732,essv21510,essv21380,essv17892,essv3805,essv1420,essv3343,essv23413,essv3725,essv24727,essv4748,essv4393,essv4168,essv2100,essv14774,essv2851,essv16070,essv13558,essv16222,essv18430,essv21466,essv8150,essv11906,essv16967,essv3560,essv7205,essv2291,essv17424,essv11767,essv108,essv7411,essv3112,essv22200,essv9683,essv10343,essv11639 M 271 0 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 NA06985,NA06991,NA06993,NA06994,NA07000,NA07022,NA07029,NA07348,NA07357,NA10830,NA10838,NA10839,NA10854,NA10856,NA10857,NA10859,NA10860,NA11829,NA11830,NA11831,NA11832,NA11840,NA11993,NA12003,NA12005,NA12006,NA12043,NA12044,NA12057,NA12144,NA12146,NA12154,NA12234,NA12236,NA12248,NA12264,NA12707,NA12716,NA12717,NA12740,NA12750,NA12751,NA12752,NA12760,NA12761,NA12763,NA12801,NA12812,NA12814,NA12864,NA12865,NA12872,NA12873,NA12875,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18506,NA18508,NA18515,NA18516,NA18517,NA18522,NA18523,NA18524,NA18526,NA18529,NA18532,NA18540,NA18545,NA18547,NA18552,NA18555,NA18558,NA18562,NA18563,NA18572,NA18573,NA18576,NA18592,NA18593,NA18594,NA18603,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18857,NA18860,NA18861,NA18862,NA18863,NA18871,NA18872,NA18912,NA18913,NA18914,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18953,NA18960,NA18965,NA18966,NA18967,NA18968,NA18969,NA18971,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19003,NA19007,NA19012,NA19092,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19143,NA19144,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19201,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19211,NA19222,NA19223,NA19238,NA19240 nsv831849 10 45896976 46063691 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448389,nssv1448390 M 95 2 0 PTPN20A,PTPN20B nsv820873 10 45898323 46105631 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420867 S 1 0 1 FRMPD2P1,PTPN20A,PTPN20B NA10851 esv22204 10 45898323 46849147 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14800,esv16233,esv13211,esv12250,esv19573,esv18141,esv18424,esv20121,esv13897,esv19313 M 451 7 32 AGAP9,ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv8633 10 45900211 45962568 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16661,nssv23480,nssv18936 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA12872,NA19221 nsv895117 10 45970655 46111616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585300 S 6533 0 1 FRMPD2P1,PTPN20A,PTPN20B IS37415 nsv895118 10 45987074 46507836 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583137 S 6533 1 0 BMS1P1,BMS1P5,FAM35B,FRMPD2P1,GPRIN2,PPYR1,PTPN20A,PTPN20B,SYT15 IS36273 dgv258e1 10 46002351 47262482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16489,essv24131,essv23674,essv3299,essv7749,essv14491,essv7134,essv11878,essv7346,essv774,essv6919,essv4881,essv13069,essv17644,essv24504,essv5789,essv5142,essv8338,essv6969,essv22834,essv6815,essv12657,essv19787,essv3763,essv1114 M 271 0 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2P1,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,SYT15 NA10835,NA10847,NA10863,NA11881,NA12004,NA12802,NA18500,NA18537,NA18542,NA18561,NA18564,NA18566,NA18570,NA18579,NA18582,NA18605,NA18852,NA18858,NA18956,NA18961,NA18964,NA18972,NA19202,NA19210,NA19221 nsv895119 10 46021623 46189908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553059 S 6533 1 0 BMS1P1,BMS1P5,FRMPD2P1,PTPN20A,PTPN20B MS19705 nsv8634 10 46026904 46029982 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23508,nssv18586 M 31 1 1 Samples from several populations that are part of the HapMap project. PTPN20A,PTPN20B NA18552,NA19221 nsv831850 10 46044011 46255325 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448397,nssv1448398,nssv1448396,nssv1448399,nssv1448394,nssv1448391,nssv1448393,nssv1448392 M 95 7 1 BMS1P1,BMS1P5,FRMPD2P1,PTPN20A,PTPN20B nsv8636 10 46097600 48942528 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21222,nssv17209,nssv16931,nssv19158,nssv18266,nssv19627,nssv17239,nssv17332,nssv18618,nssv17320,nssv19559,nssv18738,nssv22011,nssv17200,nssv17021,nssv18174,nssv19958,nssv21891,nssv22131,nssv18616,nssv19203,nssv18506,nssv20461,nssv23761,nssv21983,nssv18204,nssv17111,nssv23923,nssv21211,nssv18706,nssv18676,nssv18805,nssv16841,nssv20278,nssv16691,nssv18054,nssv21162,nssv20911,nssv20248,nssv17170,nssv18386,nssv18560,nssv18740,nssv22161,nssv17392,nssv17572,nssv18394,nssv19928,nssv18410,nssv18620,nssv19367,nssv20338,nssv21741,nssv20368,nssv23536,nssv23564,nssv16721,nssv19008,nssv21102,nssv22311,nssv22251,nssv18415,nssv18505,nssv19038,nssv22191,nssv18650,nssv19499,nssv23842,nssv17329,nssv19173,nssv17345,nssv19307,nssv18907,nssv18745,nssv18566,nssv23592,nssv18985,nssv17255,nssv18918,nssv17299,nssv20108,nssv21801,nssv18596,nssv19188,nssv17435,nssv22043,nssv21192,nssv23869,nssv18858,nssv19507,nssv23620,nssv20611,nssv17482,nssv21687,nssv21644,nssv21031,nssv18860,nssv17285,nssv20881,nssv17119,nssv18978,nssv19218,nssv19778,nssv22341,nssv19387,nssv20971,nssv18685,nssv17315,nssv17904,nssv17051,nssv17140,nssv19174,nssv17149,nssv18530,nssv16961,nssv19988,nssv18925,nssv19128,nssv19299,nssv17201,nssv17290,nssv19349,nssv21042,nssv17171,nssv21861,nssv18470,nssv19327,nssv18680,nssv18855,nssv19808,nssv16999,nssv19269,nssv18798,nssv20521,nssv18708,nssv17141,nssv19337,nssv18648,nssv19357,nssv19267,nssv19015,nssv19248,nssv18206,nssv19359,nssv18565,nssv17135,nssv17912,nssv20731,nssv22013,nssv21301,nssv18955,nssv20018,nssv19147,nssv18626,nssv17195,nssv18828,nssv21061,nssv18536,nssv20821,nssv16991,nssv21674,nssv17350,nssv22193,nssv18835,nssv21271,nssv16811,nssv18945,nssv19597,nssv18236,nssv17375,nssv18997,nssv18678,nssv19537,nssv20851,nssv17362,nssv18966,nssv18655,nssv20581,nssv18874,nssv18796,nssv19529,nssv19259,nssv19319,nssv17964,nssv18830,nssv21151,nssv17029,nssv19297,nssv17302,nssv16871,nssv17602,nssv21951,nssv20641,nssv19237,nssv19657,nssv16939,nssv18888,nssv19449,nssv19567,nssv17512,nssv20671,nssv18877,nssv18895,nssv18885,nssv17359,nssv21241,nssv19035,nssv23788,nssv23676,nssv19717,nssv16781,nssv19777,nssv23734,nssv21121,nssv18634,nssv18264,nssv19687,nssv21921,nssv18915,nssv21831,nssv22221,nssv21361,nssv19024,nssv20551,nssv21747,nssv18994,nssv21711,nssv20491,nssv18604,nssv21981,nssv19229,nssv18385,nssv23648,nssv18326,nssv19125,nssv19278,nssv19838,nssv18715,nssv17231,nssv22401,nssv17882,nssv18967,nssv21012,nssv20701,nssv19379,nssv20398,nssv18904,nssv18176,nssv18948,nssv16969,nssv20048,nssv18710,nssv21132,nssv18736,nssv21331,nssv18784,nssv19114,nssv18364,nssv22281,nssv17852,nssv18595,nssv23950,nssv16909,nssv18304,nssv17844,nssv18500,nssv22163,nssv18544,nssv19289,nssv19898,nssv17260,nssv18844,nssv18664,nssv18975,nssv17452,nssv20308,nssv18574,nssv19718,nssv18234,nssv17165,nssv22041,nssv19144,nssv19117,nssv18964,nssv21181,nssv17225,nssv19065,nssv19068,nssv22371,nssv19054,nssv18454,nssv18356,nssv19027,nssv18146,nssv19409,nssv17272,nssv21001,nssv20791,nssv18694,nssv17465,nssv20941,nssv18724,nssv21953,nssv17542,nssv17230,nssv18535,nssv18476,nssv22133,nssv16901,nssv18865,nssv19329,nssv18296,nssv18646,nssv19477,nssv19199,nssv19177,nssv17495,nssv22073,nssv17934,nssv18937,nssv19389,nssv19447,nssv17874,nssv18814,nssv23815,nssv20863,nssv18484,nssv18625,nssv18934,nssv17059,nssv18475,nssv19207,nssv18590,nssv17972,nssv23896,nssv17942,nssv18144,nssv19204,nssv18334,nssv17261,nssv19868,nssv18847,nssv17994,nssv19057,nssv18514,nssv17269,nssv21717,nssv19469,nssv18274,nssv18416,nssv18800,nssv19155,nssv18024,nssv19005,nssv22071,nssv17179 M 31 6 29 Samples from several populations that are part of the HapMap project. AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GDF10,GDF2,GPRIN2,LOC399753,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,ZNF488 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv895120 10 46098712 46235441 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532581 S 6533 1 0 BMS1P1,BMS1P5 MS10777 nsv436102 10 46100261 49048485 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466592 S 2 0 1 Samples from several populations that are part of the HapMap project. AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,GDF10,GDF2,GPRIN2,LOC399753,LOC642826,LOC643650,LOC728643,PPYR1,PTPN20A,PTPN20B,RBP3,SYT15,ZNF488 NA18505 nsv7203 10 46112244 51142474 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv892,nssv6395,nssv9796,nssv9797,nssv10756,nssv10755,nssv5289,nssv872,nssv6394,nssv3875,nssv862,nssv3876,nssv5290,nssv11239,nssv1894 M 9 0 0 AGAP7,AGAP8,AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,ARHGAP22,BMS1P1,BMS1P5,C10orf128,C10orf53,C10orf71,CHAT,CTSL1P2,DRGX,ERCC6,FAM170B,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,FRMPD2,GDF10,GDF2,GPRIN2,LOC100506733,LOC399753,LOC642826,LOC643650,LOC728407,LOC728643,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,PPYR1,PTPN20A,PTPN20B,RBP3,SLC18A3,SYT15,VSTM4,WDFY4,ZNF488 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 dgv652n71 10 46163228 46381673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895121,nsv895122 M 6533 0 2 BMS1P1,BMS1P5,FAM35B,SYT15 IS38333,MS24987 dgv653n71 10 46163228 46448337 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895124,nsv895123 M 6533 3 0 BMS1P1,BMS1P5,FAM35B,GPRIN2,SYT15 IS33055,MS10567,MS21677 dgv654n71 10 46163228 46569123 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895125,nsv895126 M 6533 2 0 BMS1P1,BMS1P5,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS38069,MS16917 dgv655n71 10 46163228 46580067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895127,nsv895139 M 6533 0 3 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS38374,IS39418,MS13694 nsv895128 10 46163228 46591173 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596305,nssv1596689 M 6533 1 1 ANXA8,ANXA8L1,BMS1P1,BMS1P5,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS40490,IS40616 dgv656n71 10 46163228 47519753 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895154,nsv895129 M 6533 3 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,BMS1P1,BMS1P5,FAM21B,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 IS32166,IS36442,IS40503 dgv8n68 10 46228686 46416466 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv831852,nsv831851 M 95 17 0 FAM35B,GPRIN2,SYT15 essv21763 10 46232533 46428959 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM35B,GPRIN2,SYT15 NA12239 dgv259e1 10 46232533 46645403 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv227,essv1201 M 271 0 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 NA18948,NA18951 dgv260e1 10 46232533 47262482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10912,essv10250,essv20112,essv7689,essv14630,essv9911,essv23201,essv15981,essv23484,essv6033,essv3969,essv12023,essv8952,essv1030,essv5106,essv17298,essv7890,essv12969,essv14378,essv24573,essv21111,essv18330,essv15008,essv905,essv2324,essv18421,essv470,essv17568,essv18312,essv22761,essv17277,essv11807,essv17845 M 271 0 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 NA07019,NA07034,NA07345,NA10831,NA10846,NA11992,NA11994,NA12156,NA12249,NA12762,NA12815,NA18503,NA18507,NA18521,NA18571,NA18577,NA18633,NA18856,NA18859,NA18870,NA18940,NA18952,NA18970,NA19000,NA19005,NA19093,NA19140,NA19141,NA19142,NA19145,NA19152,NA19200,NA19209 dgv657n71 10 46241107 46602154 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895144,nsv895131,nsv895143,nsv895130,nsv895133,nsv895134,nsv895141,nsv895140 M 6533 11 0 ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS31172,IS33472,IS33771,IS35372,IS35379,IS38356,IS38818,IS41801,MS15269,MS22492,SP53441 dgv658n71 10 46247421 46461598 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895136,nsv895137,nsv895132,nsv895142,nsv895138 M 6533 7 0 FAM35B,GPRIN2,SYT15 IS30218,IS35099,IS37713,IS38170,IS40702,IS41176,MS11331 nsv895135 10 46247421 46765637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525237 S 6533 0 1 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 SP56377 nsv895145 10 46299726 46428169 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499762 S 6533 1 0 FAM35B,GPRIN2,SYT15 SP50530 dgv659n71 10 46319907 46541732 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895146,nsv895147,nsv895155,nsv895156 M 6533 7 0 FAM35B,GPRIN2,LOC643650,PPYR1,SYT15 IS31369,IS31401,IS33558,IS34055,IS40188,MS13095,MS18273 dgv660n71 10 46319907 46611927 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895163,nsv895158,nsv895159,nsv895157,nsv895161,nsv895150,nsv895148,nsv895152,nsv895151,nsv895149,nsv895160,nsv895162,nsv895164,nsv895165 M 6533 32 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS30700,IS31282,IS31722,IS33076,IS33263,IS33504,IS34543,IS34658,IS35018,IS35297,IS35545,IS37573,IS37743,IS38063,IS38078,IS38235,IS39248,IS40582,IS40776,IS41924,MS11300,MS15514,MS16122,MS16607,MS20200,MS20612,MS23714,MS24207,MS25471,SP53407,SP53415,SP57518 dgv661n71 10 46319907 47007374 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895177,nsv895153 M 6533 2 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 IS41768,MS19705 dgv22e55 10 46363383 46557002 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750907,esv2750905,esv34440,esv2750902,esv2750904,esv2750900,esv34848,esv2750901,esv2750903,esv2750906,esv2750939 M 771 11 0 GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 BEC_355,BEC_361,BEC_531,BEC_579,BEC_580,BEC_613,BEC_673,BEC_722,BEC_77,NA11882,NA12753 dgv261e1 10 46363383 46575501 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12445,essv22809,essv20739,essv9860,essv19128 M 271 0 0 GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 NA07357,NA12044,NA12753,NA19144,NA19152 dgv262e1 10 46363383 47062478 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21925,essv22736,essv19042 M 271 0 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 NA07034,NA12057,NA12239 dgv23e55 10 46363383 47212100 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34785,esv34814,esv2750912,esv34288,esv34409,esv34478,esv34970,esv2750913 M 771 0 8 AGAP9,ANTXRL,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 NA11840,NA12878,NA18503,NA18861,NA18863,NA19138,NA19139,NA19204 dgv24e55 10 46363383 47212100 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750908,esv2750936,esv2750952,esv2750918,esv34497,esv2750955,esv2750920,esv2750954,esv2750917,esv34247,esv2750951,esv2750950,esv2750947,esv2750945,esv34262,esv34281,esv34712,esv34799,esv35047,esv35074,esv35080,esv35088,esv35122,esv2750909,esv2750910,esv2750911,esv2750914,esv2750915,esv2750916,esv2750919,esv2750921,esv2750922,esv2750923,esv2750937,esv2750938,esv2750940,esv2750941,esv2750942,esv2750946,esv2750948,esv2750949,esv2750953,esv2750956 M 771 43 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1,SYT15 BEC_103,BEC_106,BEC_350,BEC_358,BEC_363,BEC_373,BEC_40,BEC_44,BEC_484,BEC_522,BEC_53,BEC_620,BEC_631,BEC_646,BEC_665,BEC_726,BEC_73,BEC_735,NA07048,NA07055,NA07056,NA10851,NA18550,NA18948,NA18951,NA19141,NA19142,SPC_133,SPC_155,SPC_159,SPC_162,SPC_163,SPC_167,SPC_169,SPC_171,SPC_179,SPC_187,SPC_193,SPC_29,SPC_43,SPC_56,SPC_83,SPC_85 nsv438171 10 46363384 46378622 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470284,nssv470286 M 269 0 2 Samples from several populations that are part of the HapMap project. SYT15 NA19200,NA19202 dgv147n67 10 46369261 46569459 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825361,nsv825360,nsv825362,nsv825359 M 31 20 0 GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18999 nsv820817 10 46369261 46605095 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420868 S 1 1 0 ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 NA10851 esv2632472 10 46372416 46569271 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335191 S 1 1 0 GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 NA18507 nsv482144 10 46378534 46390607 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558505 S 1 1 0 SYT15 KB1 dgv662n71 10 46381673 46580067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895166,nsv895167 M 6533 0 3 ANXA8,ANXA8L1,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS32736,IS37415,IS41340 dgv663n71 10 46381673 46591173 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895169,nsv895168 M 6533 4 3 ANXA8,ANXA8L1,GPRIN2,LOC643650,LOC728643,PPYR1,SYT15 IS31183,IS33846,IS38622,IS40145,MS19321,MS24987,SP57603 nsv821667 10 46397301 47102745 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421241 S 31 1 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1 nsv437670 10 46400233 46419001 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467551 S 60 0 1 Samples from several populations that are part of the HapMap project. GPRIN2 NA19094 nsv470934 10 46410733 47173619 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544872,nssv544861,nssv544891,nssv544873,nssv544862,nssv544889,nssv544858,nssv544860,nssv544880,nssv544884,nssv544853,nssv544883,nssv544866,nssv544875,nssv544871,nssv544881,nssv544857,nssv544882,nssv544869,nssv544856,nssv544859,nssv544877,nssv544892,nssv544886,nssv544868,nssv544885,nssv544879,nssv544870,nssv544878,nssv544855,nssv544890,nssv544867,nssv544863,nssv544874,nssv544864,nssv544888 M 443 36 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGAP9,ANTXRL,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1 HGDP00052,HGDP00449,HGDP00452,HGDP00462,HGDP00472,HGDP00473,HGDP00479,HGDP00577,HGDP00600,HGDP00606,HGDP00607,HGDP00612,HGDP00625,HGDP00626,HGDP00640,HGDP00646,HGDP00649,HGDP00650,HGDP00654,HGDP00677,HGDP00681,HGDP00684,HGDP00693,HGDP00787,HGDP00882,HGDP00883,HGDP00895,HGDP00910,HGDP00919,HGDP00931,HGDP01187,HGDP01253,HGDP01260,HGDP01359,HGDP01384,HGDP01403 dgv664n71 10 46410734 46602154 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895173,nsv895176,nsv895175,nsv895174,nsv895172,nsv895171,nsv895170 M 6533 16 0 ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,GPRIN2,LOC643650,LOC728643,PPYR1 IS30198,IS30547,IS33522,IS33786,IS34562,IS35107,IS37346,IS37435,IS37753,IS37848,IS38055,IS38542,IS38602,IS40387,MS17363,MS24738 nsv818758 10 46410734 47173619 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416088 S 112 1 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,GPRIN2,LOC642826,LOC643650,LOC728643,PPYR1 NA12813 nsv438172 10 46412363 46414186 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470288,nssv470287 M 269 0 2 Samples from several populations that are part of the HapMap project. GPRIN2 NA19093,NA19094 nsv482145 10 46413552 46420573 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558506 S 1 1 0 GPRIN2 KB1 dgv148n67 10 46420487 46569459 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825363,nsv825366,nsv825367 M 31 4 0 GPRIN2,LOC643650,LOC728643,PPYR1 AK10,AK12,AK6,NA18968 essv13288 10 46422763 46552851 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC643650,PPYR1 NA19202 esv1005753 10 46430325 46482213 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565554 S 3 0 0 "" HuRef dgv32n16 10 46442531 46480066 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435974,nsv435949,nsv436693 M 2 0 0 "" NA15510,NA18505 esv2609145 10 46443107 46479585 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178220 S 1 0 0 "" NA18507 esv8318 10 46443343 46479584 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30759 S 1 0 0 "" SJK dgv665n71 10 46469553 46647196 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895179,nsv895178 M 6533 2 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 MS14818,SP52694 nsv52 10 46477759 46483278 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv52 S 1 0 0 "" NA15510 nsv511437 10 46478536 46529354 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626049 S 1 0 1 LOC643650,PPYR1 1 esv259450 10 46480750 46481158 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393708,essv2394342 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv264e1 10 46487312 47262482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6546,essv5708,essv11059,essv22425,essv8982,essv8719,essv11478,essv2410,essv2106,essv15198 M 271 0 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,FAM25B,FAM25C,FAM25G,FAM35B2,LOC642826,LOC643650,LOC728643,PPYR1 NA10861,NA18504,NA18550,NA18624,NA18856,NA18951,NA18959,NA19138,NA19139,NA19200 nsv831853 10 46487806 46642258 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448425,nssv1448430,nssv1448424,nssv1448423,nssv1448422,nssv1448421,nssv1448420,nssv1448426,nssv1448427,nssv1448428,nssv1448431 M 95 11 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC643650,LOC728643,PPYR1 nsv895180 10 46492831 46529577 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500281 S 6533 1 0 LOC643650,PPYR1 SP50116 dgv265e1 10 46494897 46529485 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21626,essv15191 M 271 0 0 LOC643650,PPYR1 NA07348,NA18504 essv10708 10 46499590 46507480 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PPYR1 NA18508 dgv266e1 10 46499590 46557002 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20505,essv25076 M 271 0 0 LOC643650,LOC728643,PPYR1 NA12874,NA12892 nsv825368 10 46505532 46506109 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421926 S 31 1 0 PPYR1 NA18997 essv24439 10 46507377 46575501 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC643650,LOC728643,PPYR1 NA12865 esv2545436 10 46507609 46509110 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196606 S 1 0 1 PPYR1 NA18507 esv988515 10 46508167 46508929 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563507 S 3 0 1 PPYR1 HuRef esv2112000 10 46508191 46508910 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733491 S 1 0 1 PPYR1 NA18507 nsv512161 10 46508217 46510196 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624725 S 1 0 1 PPYR1 1 nsv895181 10 46508353 46584706 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502775 S 6533 1 0 ANXA8,ANXA8L1,LOC643650,LOC728643 SP51411 nsv24572 10 46508382 46508709 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43150 M 24 "" esv1000185 10 46508384 46508711 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573548 S 3 0 1 "" HuRef esv7072 10 46508411 46508715 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29513 S 1 0 1 "" SJK dgv666n71 10 46508974 47171576 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895186,nsv895182,nsv895185 M 6533 3 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,FAM35B2,LOC642826,LOC643650,LOC728643 IS35372,MS10567,MS21677 essv101790 10 46512162 46542721 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. LOC643650 NA18504 essv18515 10 46529485 46575501 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC643650,LOC728643 NA12763 esv259943 10 46542823 46543167 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397182,essv2400178 M 144 0 0 Samples from several populations that are part of the HapMap project. LOC643650 NA18572,NA18608 esv6186 10 46559246 46560668 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28627 S 1 0 1 LOC643650 SJK esv1003227 10 46559847 46560644 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587037 S 3 0 1 LOC643650 HuRef nsv825369 10 46559847 46560644 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438311 S 31 1 0 LOC643650 NA18951 esv995135 10 46560006 46560561 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586615 S 3 0 1 LOC643650 HuRef nsv831854 10 46562221 46744982 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448435,nssv1448442,nssv1448436,nssv1448438,nssv1448439,nssv1448437,nssv1448441,nssv1448443,nssv1448433,nssv1448432,nssv1448434 M 95 11 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC642826,LOC643650 esv2596706 10 46565954 46567430 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335623 S 1 0 1 LOC643650 NA18507 dgv667n71 10 46631679 46765637 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895183,nsv895189,nsv895187 M 6533 0 3 AGAP9,LOC642826 IS32736,MS12606,MS13916 dgv668n71 10 46631679 46787734 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895184,nsv895190 M 6533 2 0 AGAP9,LOC642826 IS38410,SP55671 nsv821424 10 46658956 46849147 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420870 S 1 1 0 FAM35B2,LOC642826 NA10851 dgv669n71 10 46665138 47007374 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895194,nsv895195,nsv895188 M 6533 0 4 FAM35B2 IS38101,IS38516,IS41982,MS24987 nsv895191 10 46669805 47007374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583404 S 6533 1 0 FAM35B2 IS36458 dgv670n71 10 46669805 47454088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895204,nsv895197,nsv895236,nsv895245,nsv895192,nsv895214,nsv895209 M 6533 27 0 ANTXRL,ANXA8L2,FAM21B,FAM35B2 IS31172,IS31282,IS33472,IS33786,IS34543,IS34782,IS38818,IS39102,IS40188,IS40387,IS40776,MS10168,MS10301,MS11300,MS13095,MS14147,MS14684,MS14779,MS15269,MS16122,MS22492,MS24732,SP50530,SP51281,SP52454,SP57874,SP58450 nsv895193 10 46710573 46830464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554429,nssv1589494 M 6533 0 2 FAM35B2 IS38374,MS20812 dgv671n71 10 46730837 47197303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895213,nsv895196 M 6533 0 3 ANTXRL,FAM35B2 IS35788,MS15307,MS22998 dgv672n71 10 46752103 47129146 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895205,nsv895202,nsv895199,nsv895211,nsv895198,nsv895201,nsv895210 M 6533 7 0 ANTXRL,FAM35B2 IS35099,IS35379,IS35571,MS16917,MS21789,MS24477,MS24738 nsv895200 10 46765637 47454088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525238 S 6533 0 1 ANTXRL,ANXA8L2,FAM21B,FAM35B2 SP56377 dgv673n71 10 46787734 47218918 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895235,nsv895208,nsv895203 M 6533 6 0 ANTXRL,ANXA8L2,FAM35B2 IS34055,IS37713,IS37743,MS18101,MS21036,SP52574 dgv674n71 10 46801296 47173619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895206,nsv895226,nsv895225,nsv895217,nsv895224,nsv895220,nsv895228,nsv895231,nsv895232,nsv895238,nsv895240,nsv895219,nsv895242,nsv895227,nsv895230,nsv895229,nsv895243,nsv895241,nsv895207 M 6533 32 0 ANTXRL,FAM35B2 IS30171,IS31371,IS31722,IS31747,IS33504,IS35255,IS37520,IS38069,IS40867,MS10441,MS10470,MS11326,MS12466,MS13383,MS16398,MS16607,MS17562,MS17958,MS19023,MS19486,MS20612,MS21283,MS25305,SP50791,SP51060,SP52523,SP53003,SP55026,SP55107,SP55882,SP57418,SP57481 dgv675n71 10 46803075 47129146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895222,nsv895212 M 6533 0 3 ANTXRL,FAM35B2 MS11015,MS23984,MS25259 dgv678n71 10 46830464 47197303 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895234,nsv895233,nsv895244 M 6533 49 19 ANTXRL,FAM35B2 IS30070,IS30423,IS30837,IS31915,IS32429,IS32686,IS33136,IS33871,IS35545,IS36973,IS38055,IS38078,IS38151,IS38280,IS38281,IS38386,IS38471,IS39992,IS40296,IS40347,IS40544,IS40828,IS40854,MS10065,MS10777,MS10941,MS13011,MS13777,MS14068,MS14111,MS15084,MS15672,MS15707,MS16722,MS18376,MS18462,MS20813,MS21483,MS22930,MS25369,MS25471,MS25728,SP50521,SP50575,SP50996,SP51037,SP51391,SP51411,SP52390,SP52692,SP52740,SP52754,SP53625,SP54087,SP55179,SP55345,SP55417,SP55630,SP55650,SP56106,SP56539,SP56614,SP56938,SP57278,SP57463,SP81091,SP81132,SP81254 essv16686 10 46999176 47159671 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANTXRL NA19142 dgv267e1 10 46999176 47262482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19623,essv18084,essv17627,essv22482,essv22001,essv21798 M 271 0 0 ANTXRL,ANXA8L2 NA11882,NA11995,NA12145,NA12155,NA12239,NA12753 esv28391 10 46999208 47175011 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19282,esv10845 M 451 0 21 ANTXRL NA06985,NA11931,NA11995,NA12239,NA12287,NA12776,NA15510,NA18502,NA18505,NA18508,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv820578 10 46999208 47178258 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420871 S 1 1 0 ANTXRL NA10851 nsv831855 10 46999887 47073358 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448446,nssv1448445,nssv1448444 M 95 3 0 "" nsv831856 10 47005430 47105765 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448452,nssv1448447,nssv1448450,nssv1448449,nssv1448448 M 95 5 0 "" nsv831857 10 47005430 47180000 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448456,nssv1448457,nssv1448459,nssv1448458,nssv1448454,nssv1448455,nssv1448453 M 95 7 0 ANTXRL nsv895246 10 47007374 47066810 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541860 S 6533 1 0 "" MS15514 dgv679n71 10 47007374 47110350 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895248,nsv895247,nsv895260,nsv895258,nsv895259 M 6533 10 0 "" IS40471,IS41869,MS13461,MS13783,MS16837,SP50825,SP55022,SP57148,SP57662,SP81141 esv2421526 10 47007374 47122809 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046973,essv5011339,essv5021854,essv5013065,essv5025945,essv5106931,essv5031191,essv5028609,essv5040697,essv5025801,essv5143408,essv5135243,essv5066495,essv5157692,essv5049445,essv5156210,essv5120751,essv5154944,essv5124341,essv5024652,essv5021201,essv5030561,essv5123825,essv5099720,essv5106540,essv5115690,essv5006574,essv5099045,essv5133761,essv5023048,essv5058076,essv5137417,essv5075122,essv5069638,essv5141383,essv5074085,essv5012209,essv5132198,essv5007276,essv5047512,essv5110296,essv5158148,essv5016459,essv5064977,essv5017444,essv5066453,essv5143463,essv5073701,essv5066397,essv5151290,essv5076363,essv5115556,essv5016365,essv5078040,essv5065281,essv5052160,essv5145938,essv5034352,essv5121717,essv5026517,essv5068835,essv5003883,essv5131193,essv5085675,essv5041138,essv5038093,essv5073116,essv5032696,essv5090072,essv5096865,essv5064274,essv5084241,essv5017862,essv5061233,essv5080590,essv5059696,essv5068526,essv5074606,essv5085547,essv5118363,essv5127308,essv5142106,essv5141612,essv5108045,essv5086291,essv5001989,essv5031552,essv5068978,essv5155154,essv5035736,essv5067829,essv5012338,essv5120389,essv5093538,essv5012812,essv5090112,essv5092526,essv5126490,essv5073980,essv5081400,essv5116145,essv5009233,essv5062218,essv5083432,essv5032831,essv5028656,essv5086314,essv5063206,essv5007798,essv5134057,essv5160155,essv5058793,essv5018627,essv5040368,essv5034672,essv5154247,essv5029299,essv5157088,essv5075810,essv5154194,essv5075449,essv5053439,essv5019341 M 1184 75 48 "" NA06997,NA07031,NA07045,NA07055,NA07056,NA10836,NA10854,NA11840,NA12056,NA12273,NA12342,NA12739,NA12749,NA12778,NA12813,NA17974,NA18125,NA18147,NA18159,NA18486,NA18503,NA18504,NA18519,NA18543,NA18546,NA18550,NA18624,NA18748,NA18861,NA18863,NA18868,NA18934,NA18940,NA18948,NA18951,NA18957,NA18959,NA19009,NA19138,NA19139,NA19140,NA19141,NA19142,NA19147,NA19148,NA19204,NA19239,NA19248,NA19249,NA19321,NA19324,NA19334,NA19352,NA19371,NA19372,NA19384,NA19394,NA19429,NA19443,NA19452,NA19455,NA19470,NA19474,NA19701,NA19708,NA19747,NA19771,NA19772,NA19794,NA19796,NA20317,NA20319,NA20332,NA20333,NA20340,NA20343,NA20360,NA20506,NA20520,NA20755,NA20757,NA20787,NA20799,NA20802,NA20803,NA20818,NA20890,NA20903,NA20904,NA20907,NA20908,NA21116,NA21300,NA21308,NA21312,NA21313,NA21344,NA21352,NA21353,NA21356,NA21370,NA21414,NA21438,NA21439,NA21440,NA21441,NA21442,NA21454,NA21455,NA21476,NA21477,NA21479,NA21491,NA21521,NA21599,NA21601,NA21613,NA21619,NA21632,NA21722,NA21776,NA21784,NA21826 dgv680n71 10 47007374 47129146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895249,nsv895277,nsv895282,nsv895281,nsv895261 M 6533 0 8 ANTXRL IS37471,MS10156,MS13257,MS15083,MS17842,MS18406,MS18873,MS20784 dgv681n71 10 47007374 47129146 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895263,nsv895250 M 6533 6 24 ANTXRL IS30435,IS35431,IS35533,IS35765,IS38371,IS41795,MS11338,MS11451,MS12597,MS14388,MS14764,MS15041,MS15145,MS15768,MS16242,MS17085,MS17244,MS17953,MS18533,MS18747,MS20471,MS21449,MS24586,MS25941,SP50598,SP55278,SP55304,SP56726,SP58502,SP81355 dgv682n71 10 47007374 47197303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895289,nsv895254 M 6533 0 2 ANTXRL MS12972,SP57376 dgv683n71 10 47007374 47218918 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895251,nsv895252,nsv895256,nsv895268,nsv895269,nsv895271,nsv895273,nsv895270,nsv895255,nsv895279,nsv895274,nsv895275,nsv895286,nsv895253 M 6533 33 0 ANTXRL,ANXA8L2 IS31401,IS34518,IS34649,IS35495,IS36559,IS37065,IS37346,IS37573,IS38384,IS38464,IS38622,IS38694,IS40038,MS11750,MS12196,MS14818,MS17484,MS20200,MS21558,MS23205,MS23957,MS24207,MS24447,MS24785,SP50116,SP51079,SP51161,SP52416,SP52713,SP52859,SP55717,SP55856,SP80959 dgv684n71 10 47007374 47454088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895276,nsv895257,nsv895287,nsv895272 M 6533 17 0 ANTXRL,ANXA8L2,FAM21B IS30218,IS30547,IS30700,IS33175,IS33263,IS33558,IS34658,IS35297,IS36990,IS37550,IS38094,IS40012,MS12387,MS18273,MS18531,MS19503,MS23145 nsv442574 10 47012100 47165567 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ANTXRL nsv470935 10 47013327 47173619 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544913,nssv544908,nssv544910,nssv544912,nssv544911,nssv544914,nssv544899,nssv544894,nssv544902,nssv544906,nssv544896,nssv544895,nssv544903,nssv544897,nssv544907,nssv544904,nssv544900,nssv544893,nssv544905,nssv544901 M 443 0 20 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANTXRL HGDP00346,HGDP00547,HGDP00574,HGDP00621,HGDP00651,HGDP00682,HGDP00907,HGDP00913,HGDP00923,HGDP00924,HGDP00925,HGDP00926,HGDP00928,HGDP00988,HGDP01029,HGDP01034,HGDP01202,HGDP01286,HGDP01405,HGDP01413 dgv81n27 10 47013328 47102486 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466911,nsv466912,nsv466913 M 1557 0 3 "" HGDP00029,HGDP00907,HGDP00925 dgv82n27 10 47013328 47122505 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466914,nsv466920,nsv466932,nsv466922,nsv466925,nsv466924,nsv466915,nsv466917 M 1557 8 0 "" 1780862077_A,1780862109_A,HGDP00472,HGDP00473,HGDP00479,HGDP00910,HGDP00931,HGDP01187 nsv818759 10 47013328 47122505 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416956,nssv1416957 M 112 0 2 "" NA19138,NA19139 dgv83n27 10 47013328 47137170 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466919,nsv466928,nsv466935,nsv466918,nsv466930,nsv466923,nsv466929,nsv466936,nsv466926,nsv466931,nsv466933,nsv466937,nsv466934,nsv466921 M 1557 0 14 ANTXRL HGDP00621,HGDP00651,HGDP00727,HGDP00815,HGDP00822,HGDP00913,HGDP00926,HGDP00928,HGDP01029,HGDP01098,HGDP01167,HGDP01202,HGDP01286,HGDP01405 dgv84n27 10 47013328 47173619 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467039,nsv467007,nsv467022,nsv467036 M 1557 0 4 ANTXRL 1780854556_A,1780862207_A,HGDP00759,HGDP01034 dgv85n27 10 47013328 47173619 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467018,nsv466945,nsv467004,nsv466998,nsv466978,nsv467008,nsv467021,nsv466957,nsv466987,nsv466951,nsv467029,nsv467028,nsv467046,nsv466999,nsv467002,nsv466993,nsv466970,nsv466975,nsv467056,nsv467053,nsv466986,nsv466990,nsv467041,nsv466992,nsv466971,nsv466939,nsv466943,nsv466956,nsv467001,nsv466976,nsv467047,nsv466941,nsv467034,nsv466997,nsv467025,nsv466988,nsv466980,nsv466948,nsv467031,nsv466953,nsv466966,nsv466963,nsv467013,nsv466991,nsv467055,nsv466969,nsv467037,nsv467035,nsv467044,nsv466982,nsv467040,nsv467011,nsv466959,nsv466981,nsv466974,nsv467052,nsv466955,nsv467042,nsv467019,nsv466940,nsv467043,nsv467030,nsv467015,nsv466954,nsv467057,nsv467051,nsv467014,nsv467033,nsv466944,nsv467026,nsv466968,nsv466977,nsv467048,nsv467006,nsv466958,nsv466967,nsv466952,nsv466996,nsv466942,nsv467010,nsv467020,nsv466979,nsv467017,nsv466960,nsv466985,nsv466962,nsv467023,nsv466947,nsv467003,nsv467054,nsv466995,nsv467024,nsv467000,nsv467045,nsv467012,nsv466946,nsv467050,nsv466964,nsv466984,nsv466965,nsv466989,nsv467009,nsv467032,nsv466973 M 1557 104 0 ANTXRL 1780854039_A,1780854216_A,1780854296_A,1780854382_A,1780854393_A,1780854441_A,1780854463_A,1780854464_A,1780854477_A,1780854517_A,1780854537_A,1780854538_A,1780862160_A,1780862252_A,1780862274_A,1780862304_A,1780862307_A,1780862360_A,1780862410_A,1780862416_A,1780862433_A,1780862480_A,1780862599_A,1782681076_A,1782681086_A,1782681093_A,1782681117_A,1782681296_A,1782681313_A,1787431196_A,1787431198_A,1798860084_A,1798860114_A,1798860191_A,1798860565_A,1798860569_A,1798860570_A,1798860592_A,HGDP00007,HGDP00021,HGDP00025,HGDP00037,HGDP00039,HGDP00108,HGDP00127,HGDP00134,HGDP00136,HGDP00140,HGDP00143,HGDP00154,HGDP00157,HGDP00189,HGDP00208,HGDP00226,HGDP00251,HGDP00254,HGDP00338,HGDP00364,HGDP00423,HGDP00428,HGDP00445,HGDP00462,HGDP00476,HGDP00526,HGDP00577,HGDP00600,HGDP00607,HGDP00612,HGDP00625,HGDP00626,HGDP00640,HGDP00644,HGDP00646,HGDP00649,HGDP00650,HGDP00654,HGDP00677,HGDP00684,HGDP00693,HGDP00731,HGDP00739,HGDP00785,HGDP00787,HGDP00790,HGDP00882,HGDP00883,HGDP00884,HGDP00886,HGDP00888,HGDP00895,HGDP00896,HGDP00901,HGDP00945,HGDP01155,HGDP01156,HGDP01177,HGDP01248,HGDP01253,HGDP01296,HGDP01332,HGDP01352,HGDP01359,HGDP01379,NINDS_243 nsv818760 10 47013328 47173619 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416262,nssv1415950,nssv1416859,nssv1415961,nssv1415939,nssv1416260,nssv1417414,nssv1417180 M 112 8 0 ANTXRL NA10851,NA12056,NA18550,NA18951,NA19140,NA19141,NA19142,NA19239 nsv467059 10 47013328 48278485 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542493 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,GDF10,GDF2,LOC642826,RBP3,ZNF488 HGDP00986 dgv685n71 10 47013541 47154771 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895262,nsv895266,nsv895264,nsv895267,nsv895265 M 6533 5 0 ANTXRL IS34353,IS41497,MS16772,MS20630,SP54448 nsv469676 10 47014282 47166584 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649606 M 265 7 4 Samples from several populations that are part of the HapMap project. ANTXRL nsv471667 10 47014283 47166584 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549951,nssv549952 M 48 2 0 ANTXRL NA10473,NA10493 nsv895278 10 47029909 47197303 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541014,nssv1533132,nssv1544549 M 6533 1 2 ANTXRL MS11022,MS15165,MS16376 dgv27e55 10 47030100 47154881 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35091,esv2750960 M 771 2 0 ANTXRL BEC_581,NA18624 dgv28e55 10 47030100 47212100 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34315,esv2750958 M 771 2 0 ANTXRL BEC_568,NA19140 esv2750959 10 47030119 47129146 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981124,essv6989223,essv6987915 M 771 0 1 ANTXRL BEC_355 dgv268e1 10 47030119 47142170 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9948,essv8541 M 271 0 0 ANTXRL NA18503,NA19204 nsv895280 10 47038302 47087405 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523802,nssv1581541 M 6533 1 1 "" IS35622,SP54216 dgv686n71 10 47038302 47133702 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895283,nsv895284 M 6533 2 0 ANTXRL IS32411,IS37577 nsv895285 10 47038302 47171576 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523472 S 6533 1 0 ANTXRL SP54030 dgv687n71 10 47057142 47197303 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895288,nsv895309,nsv895296 M 6533 7 3 ANTXRL IS37435,IS38198,IS39386,MS13252,MS24483,MS24798,SP52458,SP53491,SP57604,SP81156 dgv86n27 10 47058066 47122505 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467179,nsv467069,nsv467068,nsv467062,nsv467063,nsv467064 M 1557 0 6 "" 1780854449_A,HGDP00547,HGDP00682,HGDP00924,NINDS_233,NINDS_51 esv2216271 10 47059628 47060175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695458 S 1 0 1 "" NA18507 dgv688n71 10 47063139 47148027 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895295,nsv895290 M 6533 2 0 ANTXRL IS34684,IS39625 nsv895291 10 47065283 47087405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515284 S 6533 1 0 "" SP56144 dgv87n27 10 47065283 47120496 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467067,nsv467065,nsv467066 M 1557 3 0 "" NINDS_102,NINDS_197,NINDS_44 dgv88n27 10 47065283 47173619 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467073,nsv467099,nsv467095,nsv467081,nsv467080,nsv467092,nsv467103,nsv467100,nsv467182,nsv467074,nsv467098,nsv467184,nsv467093,nsv467090,nsv467091,nsv467104,nsv467097,nsv467180,nsv467186,nsv467101,nsv467102,nsv467079,nsv467096 M 1557 23 0 ANTXRL 1780862564_A,HGDP01018,HGDP01019,HGDP01260,NINDS_120,NINDS_124,NINDS_152,NINDS_21,NINDS_221,NINDS_230,NINDS_231,NINDS_237,NINDS_249,NINDS_272,NINDS_38,NINDS_55,NINDS_56,NINDS_62,NINDS_73,NINDS_83,NINDS_84,NINDS_94,NINDS_99 dgv89n27 10 47067933 47138713 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467185,nsv467181 M 1557 0 2 ANTXRL HGDP00574,HGDP01195 dgv689n71 10 47070415 47218918 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895318,nsv895300,nsv895299,nsv895303,nsv895310,nsv895293,nsv895292,nsv895319 M 6533 9 0 ANTXRL,ANXA8L2 IS35099,IS41347,MS15514,MS16746,MS17970,SP55310,SP55637,SP56144,SP81141 nsv895294 10 47075317 47129146 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537761,nssv1550946,nssv1590802 M 6533 1 2 ANTXRL IS38591,MS13359,MS18672 nsv895297 10 47078164 47122505 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581346 S 6533 1 0 "" IS35571 dgv690n71 10 47078164 47454088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895320,nsv895335,nsv895332,nsv895298,nsv895328,nsv895324,nsv895322,nsv895311,nsv895325 M 6533 11 0 ANTXRL,ANXA8L2,FAM21B IS31371,IS32800,IS37452,IS40005,IS40224,MS17363,MS23714,MS24738,SP51402,SP55022,SP57148 nsv831859 10 47081131 47231326 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448466,nssv1448463,nssv1448465,nssv1448461,nssv1448464,nssv1448460 M 95 1 5 ANTXRL,ANXA8L2 nsv825370 10 47087630 47088834 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439054 S 31 0 1 "" NA18973 dgv691n71 10 47090274 47173619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895316,nsv895308,nsv895301,nsv895317,nsv895307,nsv895323 M 6533 7 0 ANTXRL IS35010,IS35379,IS36320,IS38224,IS40471,IS41869,SP54979 dgv692n71 10 47091948 47130472 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895312,nsv895302,nsv895313,nsv895305 M 6533 9 0 ANTXRL IS30317,IS33711,IS36050,MS11389,MS17235,MS18695,SP50825,SP54268,SP57662 nsv895304 10 47093844 47129146 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550895,nssv1552037,nssv1574956,nssv1566230,nssv1549451,nssv1538529,nssv1560536,nssv1590727,nssv1524847,nssv1558071 M 6533 5 5 ANTXRL IS30616,IS33675,IS38575,MS13758,MS18240,MS18648,MS19135,MS23105,MS24528,SP55339 dgv693n71 10 47093844 47148027 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895315,nsv895306,nsv895314 M 6533 4 0 ANTXRL IS33406,IS35489,IS37503,IS38421 nsv437671 10 47098898 47110126 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467552 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 nsv895321 10 47100356 47162134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530680 S 6533 0 1 ANTXRL MS10311 esv2475335 10 47106736 47150712 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363903 S 1 0 0 ANTXRL NA18507 esv5777 10 47107558 47141536 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28218 S 1 0 0 ANTXRL SJK esv2305620 10 47112580 47113207 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775163 S 1 0 1 "" NA18507 esv5832 10 47112606 47113205 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28273 S 1 0 1 "" SJK esv1763813 10 47112617 47113082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041326 S 2 0 1 "" HuRef nsv6543 10 47119687 47151348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8664,nssv901 M 9 2 0 ANTXRL NA12156,NA19240 esv987684 10 47123935 47124515 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563959 S 3 1 0 "" HuRef nsv436044 10 47126969 47977846 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466598 S 2 1 0 AGAP9,ANTXRL,ANXA8,ANXA8L1,ANXA8L2,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,LOC642826,ZNF488 NA15510 dgv90n27 10 47129146 47173619 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467187,nsv467188 M 1557 2 0 ANTXRL HGDP01384,HGDP01401 dgv694n71 10 47133702 47173619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895330,nsv895326 M 6533 2 0 ANTXRL IS40867,SP52523 dgv695n71 10 47133702 47197303 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895334,nsv895327,nsv895333,nsv895329,nsv895331 M 6533 6 0 ANTXRL IS35372,IS35571,MS13288,MS15429,MS16917,SP55882 nsv24140 10 47136753 47136860 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42718 M 24 ANTXRL nsv438173 10 47148027 47167032 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470290,nssv470289 M 269 0 2 Samples from several populations that are part of the HapMap project. ANTXRL NA10854,NA11840 nsv895336 10 47157807 47218918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555873 S 6533 1 0 ANTXRL,ANXA8L2 MS21677 nsv437116 10 47164728 47241190 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466997 S 60 0 1 Samples from several populations that are part of the HapMap project. ANTXRL,ANXA8L2 NA10854 esv26219 10 47216309 47262427 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9935,esv10918 M 451 2 25 ANXA8L2 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12287,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18523,NA18861,NA18907,NA18909,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv895337 10 47218918 47920669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592670 S 6533 1 0 AGAP9,ANXA8,ANXA8L1,ANXA8L2,CTSL1P2,FAM21B,FAM25B,FAM25C,FAM25G,LOC642826 IS39243 esv24278 10 47412517 47575666 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13259,esv16990,esv11600 M 451 5 0 FAM21B NA15510,NA18523,NA18858,NA18909,NA19225 nsv821088 10 47442802 47486994 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420872 S 1 0 1 FAM21B NA10851 nsv895340 10 47567295 47901962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596426 S 6533 1 0 AGAP9,ANXA8,ANXA8L1,CTSL1P2,FAM25B,FAM25C,FAM25G,LOC642826 IS40503 nsv821253 10 47725753 47825932 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420873 S 1 0 1 CTSL1P2,LOC642826 NA10851 esv21870 10 47725753 48715504 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16169,esv11659,esv14148,esv14812,esv16929,esv15655,esv18221,esv19221,esv12563,esv16034,esv13670,esv18896,esv12885,esv15988,esv15622,esv15176 M 451 8 34 AGAP9,ANXA8,ANXA8L1,CTSL1P2,FAM25B,FAM25C,FAM25G,GDF10,GDF2,LOC642826,PTPN20A,PTPN20B,RBP3,ZNF488 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv149n67 10 47734291 47744409 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825371,nsv825372 M 31 0 9 "" AK10,AK16,NA18526,NA18542,NA18547,NA18564,NA18566,NA18592,NA18942 nsv831860 10 47795721 48000264 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448469,nssv1448467,nssv1448468 M 95 3 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC642826,ZNF488 dgv269e1 10 47796101 47972148 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13049,essv19906 M 271 0 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,LOC642826 NA12813,NA18852 dgv696n71 10 47837637 48365869 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895341,nsv895345 M 6533 2 0 AGAP9,ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,GDF10,GDF2,PTPN20A,PTPN20B,RBP3,ZNF488 SP51402,SP57481 nsv895342 10 47859130 48371805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537568 S 6533 0 1 ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,GDF10,GDF2,PTPN20A,PTPN20B,RBP3,ZNF488 MS13252 nsv895343 10 47864874 48600915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531613 S 6533 1 0 ANXA8,ANXA8L1,FAM25B,FAM25C,FAM25G,GDF10,GDF2,PTPN20A,PTPN20B,RBP3,ZNF488 MS10567 nsv895344 10 47887087 48585181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525240 S 6533 0 1 ANXA8,ANXA8L1,GDF10,GDF2,PTPN20A,PTPN20B,RBP3,ZNF488 SP56377 nsv831861 10 47887827 48053271 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448470 S 95 0 1 ANXA8,ANXA8L1,GDF10,GDF2,RBP3,ZNF488 essv16333 10 47897414 48101925 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GDF10,GDF2,RBP3,ZNF488 NA19193 nsv528799 10 48027605 48036280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705473 S 2026 0 1 GDF2 esv270874 10 48039930 48040235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540911,essv2571631,essv2546191,essv2521373,essv2525918,essv2542449,essv2536620,essv2522862,essv2544033,essv2570926,essv2568360,essv2545310,essv2523232,essv2531961,essv2577212,essv2548298,essv2521874,essv2576779,essv2525504,essv2550395,essv2535279,essv2544226,essv2551978,essv2547417,essv2558595,essv2564667,essv2577944,essv2553776,essv2559614,essv2565323,essv2576453,essv2554819,essv2530834,essv2562051,essv2537673,essv2528285,essv2544825,essv2562912,essv2541185,essv2540660,essv2524551,essv2534756,essv2559921,essv2566052,essv2530924,essv2532629,essv2567848,essv2528858,essv2567627,essv2541561,essv2570295,essv2563917,essv2553194,essv2558966,essv2527944,essv2555693,essv2566553,essv2529921,essv2573978,essv2557660,essv2555850,essv2522508,essv2531476,essv2573731,essv2543091,essv2576962,essv2571927,essv2526905,essv2536051,essv2537800,essv2548641,essv2533431,essv2554635,essv2525132,essv2563099 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12414,NA12489,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA18526,NA18532,NA18545,NA18552,NA18555,NA18561,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18638,NA18907,NA18945,NA18948,NA18949,NA18951,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005 esv273712 10 48039934 48040237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581785,essv2582679 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv1081992 10 48039958 48039958 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915968 S 2 1 0 "" HuRef esv1010922 10 48055718 48065267 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564731 S 3 0 1 GDF10 HuRef esv6330 10 48085054 48085121 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28771 S 1 1 0 "" SJK nsv895346 10 48132120 48244366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561971 S 6533 1 0 "" MS25304 esv259796 10 48138661 48139054 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394729,essv2395025,essv2399932,essv2398006 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18519,NA18856,NA19147 esv995742 10 48177380 48182892 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564921 S 3 1 0 "" HuRef esv1308340 10 48178524 48178588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780106 S 2 0 1 "" HuRef esv2470698 10 48209895 48213945 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173184 S 1 0 1 "" NA18507 esv2459256 10 48210019 48215244 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207126 S 1 0 1 "" NA18507 esv2008130 10 48210236 48214539 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995276 S 1 0 1 "" NA18507 esv2421380 10 48212212 48214020 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015321,essv5146952,essv5141505,essv5137880,essv5128864,essv5080679,essv5108341,essv5022300,essv5158047,essv5051825,essv5006008,essv5152001,essv5007566,essv5063723,essv5122088,essv5113500,essv5128385,essv5124233,essv5043972,essv5090194,essv5030748,essv5099568,essv5013659 M 1184 0 23 "" NA18507,NA18853,NA18854,NA18857,NA19096,NA19108,NA19109,NA19143,NA19149,NA19151,NA19172,NA19175,NA19214,NA19215,NA19225,NA19257,NA19258,NA19397,NA19429,NA19437,NA19904,NA21368,NA21578 nsv442179 10 48212212 48214020 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv270e1 10 48213402 49121538 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21298,esv244,esv152,essv12997,essv21120,essv18303,essv18732,essv20571 M 271 0 0 FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753,PTPN20A,PTPN20B NA07056,NA10846,NA10855,NA12815,NA12874,NA18859 nsv467189 10 48259886 48283346 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542539 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00778 esv33233 10 48279392 48280256 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98136 S 51 0 1 "" 21772 dgv697n71 10 48284072 49072090 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895347,nsv895349 M 6533 2 0 FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753,PTPN20A,PTPN20B IS36273,IS39243 nsv895348 10 48358854 48506723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585303 S 6533 0 1 PTPN20A,PTPN20B IS37415 nsv820767 10 48365756 48489335 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420874 S 1 0 1 PTPN20A,PTPN20B NA10851 nsv831862 10 48372951 48535657 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448477,nssv1448480,nssv1448476,nssv1448479,nssv1448478,nssv1448472,nssv1448475,nssv1448474,nssv1448471 M 95 9 0 PTPN20A,PTPN20B nsv433259 10 48412669 48517575 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463140 S 9 0 1 Samples from several populations that are part of the HapMap project. PTPN20A,PTPN20B NA12878 nsv895350 10 48485069 48526834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559890 S 6533 1 0 "" MS24207 nsv895351 10 48485069 48965322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596427 S 6533 1 0 FAM25B,FAM25C,FAM25G,LOC399753 IS40503 nsv6554 10 48495467 48549091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10757 S 9 0 1 "" NA18956 dgv271e1 10 48504198 48715542 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24143,essv3225,essv4688,essv1864,essv13640,essv3071,essv2777,essv12386,essv2574,essv24881,essv21020,essv782,essv10984,essv1287,essv21563,essv2493,essv1749,essv13183,essv9216,essv23231,essv4821,essv10069,essv24082,essv6714,essv10812,essv7014,essv4573,essv4407,essv12828,essv4441,essv21738,essv8837,essv12498,essv4884,essv5090,essv5220,essv12292,essv21189,essv16839,essv17570,essv1132,essv8205,essv4167,essv16116,essv18866,essv18664,essv10899,essv19789,essv15572,essv17818,essv1503,essv4624,essv4051,essv17071,essv16530,essv6278,essv19263,essv20924,essv18142,essv13080,essv24493,essv9348,essv13905,essv10672,essv20129,essv11509,essv16357,essv19910,essv7158,essv22635,essv23880,essv11204,essv15329,essv5055,essv10853,essv17715,essv15634,essv22434,essv17204,essv9670,essv12736,essv24777,essv1615,essv4778,essv14451,essv6963,essv22827,essv9412,essv6330,essv13700,essv2889,essv15380,essv16071,essv14747,essv2205,essv22349,essv11960,essv23587,essv1459,essv17438,essv22066,essv2290,essv2625,essv3143 M 271 0 0 "" NA06985,NA06991,NA07000,NA07029,NA07345,NA10831,NA10835,NA10838,NA10847,NA10859,NA10860,NA11830,NA11993,NA12004,NA12006,NA12043,NA12154,NA12234,NA12248,NA12751,NA12752,NA12761,NA12762,NA12801,NA12802,NA12813,NA12814,NA12872,NA12873,NA18501,NA18502,NA18508,NA18523,NA18524,NA18540,NA18547,NA18552,NA18555,NA18561,NA18573,NA18576,NA18577,NA18582,NA18594,NA18608,NA18609,NA18611,NA18612,NA18620,NA18622,NA18635,NA18636,NA18852,NA18853,NA18854,NA18855,NA18862,NA18871,NA18912,NA18913,NA18914,NA18942,NA18944,NA18953,NA18956,NA18960,NA18964,NA18966,NA18967,NA18969,NA18974,NA18976,NA18980,NA18981,NA18987,NA18990,NA18995,NA18997,NA19003,NA19099,NA19100,NA19102,NA19116,NA19119,NA19120,NA19127,NA19128,NA19137,NA19138,NA19143,NA19159,NA19171,NA19172,NA19173,NA19193,NA19201,NA19203,NA19204,NA19205,NA19207,NA19208,NA19209,NA19210,NA19238 dgv272e1 10 48504198 49121538 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23393,essv11106,essv18241,essv15081,essv20241,essv22548,essv90,essv21433,essv24269,essv571,essv22103,essv10410,essv15211,essv20675,essv5405,essv7551,essv11711,essv12191,essv22218,essv22993,essv20326,essv20805,essv9054,essv169,essv22371,essv5591,essv19664,essv20429,essv15542,essv13782,essv20205,essv14322,essv15801,essv16443,essv6136,essv23379,essv8456,essv22909,essv24413,essv23090,essv19451,essv4269,essv24963,essv9140,essv14119,essv12540,essv9796,essv19541,essv19178,essv16301,essv17944,essv24684,essv21325,essv6627,essv15720,essv10142,essv2027,essv18964,essv8174,essv23546,essv10339,essv334,essv10525 M 271 0 0 FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753 NA06993,NA07348,NA07357,NA10830,NA10839,NA10854,NA10856,NA10857,NA11829,NA11832,NA11840,NA12003,NA12005,NA12044,NA12057,NA12144,NA12146,NA12236,NA12264,NA12707,NA12717,NA12750,NA12760,NA12812,NA12864,NA12865,NA12875,NA12878,NA12892,NA18505,NA18506,NA18516,NA18529,NA18532,NA18545,NA18563,NA18603,NA18621,NA18860,NA18861,NA18863,NA18949,NA18968,NA18971,NA18991,NA18998,NA19094,NA19098,NA19101,NA19129,NA19130,NA19131,NA19132,NA19139,NA19153,NA19154,NA19161,NA19194,NA19206,NA19211,NA19222,NA19223,NA19240 nsv498727 10 48518105 48529935 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585444 S 9 0 1 "" dgv698n71 10 48537291 48897630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895354,nsv895352,nsv895353,nsv895355 M 6533 0 6 FAM25B,FAM25C,FAM25G,LOC399753 IS32736,IS37415,IS38333,IS38374,IS39418,MS13694 nsv895356 10 48568783 48679809 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573619 S 6533 1 0 "" IS33472 nsv469543 10 48620736 48707825 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649653 M 265 1 1 Samples from several populations that are part of the HapMap project. "" dgv700n71 10 48679809 49072090 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895362,nsv895361,nsv895360 M 6533 4 0 FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753 IS30522,IS37291,MS10126,MS19705 nsv469669 10 48865543 49010893 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649599 M 265 2 3 Samples from several populations that are part of the HapMap project. FAM25B,FAM25C,FAM25G,LOC399753 essv22497 10 48865543 49121538 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753 NA11882 esv24863 10 48865577 49060727 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16248,esv13067,esv15276,esv18884,esv19691 M 451 3 12 FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753 NA07037,NA11894,NA11995,NA12004,NA12287,NA12776,NA12878,NA15510,NA18861,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv820931 10 48865577 49060727 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420875 S 1 0 1 FAM25B,FAM25C,FAM25G,FRMPD2,LOC399753 NA10851 esv33214 10 48866957 48932382 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94503 S 51 0 1 FAM25B,FAM25C,FAM25G,LOC399753 21932 nsv437672 10 48881292 48946348 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467553 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC399753 NA19240 nsv831863 10 48889307 49019439 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448488,nssv1448481,nssv1448482,nssv1448487,nssv1448483,nssv1448485,nssv1448486 M 95 7 0 LOC399753 nsv895363 10 48916296 49051641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585305 S 6533 0 1 FRMPD2 IS37415 nsv895364 10 48916296 49072090 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552361,nssv1590191 M 6533 1 1 FRMPD2 IS38466,MS19360 nsv895365 10 48916296 50797516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525241 S 6533 0 1 ARHGAP22,C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FRMPD2,LOC100506733,LRRC18,MAPK8,MIR4294,OGDHL,PARG,PGBD3,SLC18A3,VSTM4,WDFY4 SP56377 nsv895366 10 48965322 49246460 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502192 S 6533 1 0 FRMPD2 SP51054 nsv831864 10 48967821 49120305 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448489,nssv1448491,nssv1448494,nssv1448493,nssv1448492,nssv1448490 M 95 6 0 FRMPD2 nsv8637 10 48983651 48987978 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21252,nssv23977,nssv18826 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18552,NA19221 nsv895367 10 49003760 49161053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518268 S 6533 1 0 FRMPD2 SP57481 nsv8638 10 49018055 49024583 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24034,nssv21282 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 nsv6565 10 49030812 49064984 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8676 S 9 1 0 FRMPD2 NA12156 nsv895368 10 49051641 49221566 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556318 S 6533 1 0 FRMPD2 MS21905 nsv8639 10 49055051 49059579 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21704,nssv18856 M 31 0 2 Samples from several populations that are part of the HapMap project. FRMPD2 NA18517,NA18552 nsv467190 10 49072090 49246884 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542540 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FRMPD2 HGDP01330 nsv895369 10 49080683 50538731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531614 S 6533 1 0 ARHGAP22,C10orf128,C10orf71,CHAT,DRGX,ERCC6,FAM170B,FRMPD2,LOC100506733,LRRC18,MAPK8,MIR4294,PGBD3,SLC18A3,VSTM4,WDFY4 MS10567 esv1001778 10 49088872 49099654 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564245 S 3 0 1 FRMPD2 HuRef nsv895370 10 49091179 49154704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521078 S 6533 1 0 FRMPD2 SP51402 nsv6576 10 49145512 49174261 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10758 S 9 1 0 FRMPD2 NA18956 nsv895371 10 49162081 49902186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521079 S 6533 1 0 ARHGAP22,LRRC18,MAPK8,MIR4294,VSTM4,WDFY4 SP51402 esv1772307 10 49170041 49170041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698749 S 2 1 0 "" HuRef nsv6587 10 49196335 49241810 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6397 S 9 0 1 "" NA12156 nsv895372 10 49246884 49603494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518269 S 6533 1 0 ARHGAP22,MAPK8,WDFY4 SP57481 nsv825373 10 49286210 49287686 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421927 S 31 0 1 MAPK8 NA18997 nsv518744 10 49306513 49313232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696193 S 2026 0 1 MAPK8 nsv519701 10 49306513 49321355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697000 S 2026 0 1 MAPK8 esv1005947 10 49329240 49330346 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587129 S 3 0 1 ARHGAP22 HuRef nsv516006 10 49377948 49393306 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678962,nssv688239,nssv658140,nssv665684,nssv669185,nssv669087 M 2026 0 6 ARHGAP22 nsv6598 10 49430128 49435536 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9798 S 9 1 0 ARHGAP22 NA18507 nsv6609 10 49440425 49448216 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8685 S 9 0 1 ARHGAP22 NA12156 esv25392 10 49449796 49450492 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18030 S 451 0 1 ARHGAP22 NA12239 esv26659 10 49489417 49490394 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15884 S 451 0 1 "" NA18858 esv1169042 10 49553516 49553574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975554 S 2 0 1 "" HuRef esv1029416 10 49553905 49553989 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883893 S 2 0 1 "" HuRef esv1053081 10 49554241 49554241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339508 S 2 1 0 "" HuRef esv1620293 10 49554603 49554603 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326110 S 2 1 0 "" HuRef nsv895373 10 49581743 49603494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519310 S 6533 0 1 WDFY4 SP81009 nsv512162 10 49585866 49589381 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624726 S 1 0 1 WDFY4 1 esv2472494 10 49586634 49588133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268543 S 1 0 1 WDFY4 NA18507 esv1991692 10 49586975 49587698 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671328 S 1 0 1 WDFY4 NA18507 nsv523003 10 49587067 49590614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698675 S 2026 0 1 WDFY4 esv5318 10 49587127 49587601 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27759 S 1 0 1 Single Asian sample YH WDFY4 YH esv999945 10 49587172 49587494 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574729 S 3 0 1 WDFY4 HuRef esv1063968 10 49587177 49587500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091057 S 2 0 1 WDFY4 HuRef esv9654 10 49587182 49587482 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32095 S 1 0 1 WDFY4 SJK nsv895374 10 49639562 49660087 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518270 S 6533 1 0 WDFY4 SP57481 nsv831865 10 49664260 49834245 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448496 S 95 1 0 LRRC18,WDFY4 nsv516774 10 49684334 49684822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653456,nssv653150 M 2026 0 2 WDFY4 esv8160 10 49701116 49701202 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30601 S 1 1 0 WDFY4 SJK esv32989 10 49726457 49729424 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96923,essv95613,essv95296,essv99322 M 51 0 4 WDFY4 21817,21841,21872,22275 nsv517287 10 49792187 49804272 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692163,nssv696227,nssv677120,nssv682901,nssv666146,nssv681137,nssv663231,nssv675486,nssv654204 M 2026 0 9 LRRC18,WDFY4 nsv831866 10 49835186 50005282 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448497,nssv1448498 M 95 1 1 LOC100506733,MIR4294,VSTM4,WDFY4 nsv6620 10 49867350 49894641 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv910 S 9 0 1 VSTM4 NA19240 esv27974 10 49875837 49877003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16567 S 451 0 1 "" NA19240 esv2845 10 49947988 49948595 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25286 S 1 0 1 Single Asian sample YH VSTM4 YH esv6657 10 49948023 49948325 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29098 S 1 0 1 VSTM4 SJK nsv522731 10 49963462 49964676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698364 S 2026 0 1 VSTM4 nsv895375 10 49976392 50757028 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521080 S 6533 1 0 C10orf128,C10orf53,C10orf71,CHAT,DRGX,ERCC6,FAM170B,LOC100506733,OGDHL,PARG,PGBD3,SLC18A3,VSTM4 SP51402 esv21974 10 49993054 49993981 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11643 S 451 0 1 VSTM4 NA07045 esv1119274 10 50005226 50005285 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120586 S 2 0 1 LOC100506733 HuRef nsv24458 10 50130153 50130212 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43036 M 24 "" nsv895376 10 50150170 50227217 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518271 S 6533 1 0 C10orf71 SP57481 esv2255118 10 50197534 50197975 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501281 S 1 0 1 C10orf71 NA18507 esv9684 10 50213525 50213768 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32125 S 1 0 1 "" SJK esv2620549 10 50218161 50219530 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377577 S 1 0 1 "" NA18507 nsv526843 10 50240550 50255183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703201 S 2026 0 1 DRGX nsv895377 10 50258996 50348218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518272 S 6533 1 0 DRGX,ERCC6 SP57481 nsv831867 10 50277863 50458757 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448499 S 95 1 0 ERCC6,PGBD3 esv5944 10 50341344 50341408 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28385 S 1 1 0 ERCC6 SJK nsv6632 10 50364063 50396529 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3877 S 9 1 0 ERCC6,PGBD3 NA12878 esv2339896 10 50385803 50386208 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930870 S 1 0 1 ERCC6 NA18507 nsv895378 10 50471348 50625655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518273 S 6533 1 0 C10orf53,CHAT,OGDHL,SLC18A3 SP57481 esv1348586 10 50500092 50500092 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059620 S 2 1 0 CHAT HuRef nsv510217 10 50525050 50531050 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621409 S 4 0 1 CHAT NA15510 esv2588189 10 50620381 50620778 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273963 S 1 1 0 OGDHL NA18507 essv75 10 50641980 50807416 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PARG NA18991 dgv273e1 10 50641980 51595172 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv9,esv118,essv16510 M 271 0 0 AGAP6,AGAP7,AGAP8,FAM21A,FAM21B,FLJ31813,LOC728407,MSMB,NCOA4,PARG,TIMM23 NA19210 nsv428232 10 50641980 51595172 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451903,nssv451884,nssv451896,nssv451891,nssv451913,nssv451907,nssv451899,nssv451893,nssv451910,nssv451901,nssv451902,nssv451904,nssv451905,nssv451887,nssv451911,nssv451914,nssv451906,nssv451889,nssv451888,nssv451915,nssv451898,nssv451900,nssv451912,nssv451892,nssv451894,nssv451890 M 62 4 22 AGAP6,AGAP7,AGAP8,FAM21A,FAM21B,FLJ31813,LOC728407,MSMB,NCOA4,PARG,TIMM23 HGDP00449,HGDP00450,HGDP00460,HGDP00463,HGDP00467,HGDP00471,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 esv999463 10 50650279 50660206 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565742 S 3 0 1 "" HuRef esv22219 10 50654844 50655686 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14809 S 451 0 1 "" NA18858 esv21987 10 50673386 50681048 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11808 S 451 0 2 "" NA11931,NA12414 nsv442180 10 50674142 50680904 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514557 10 50678392 50784440 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628050 S 1414 0 0 PARG esv33570 10 50678421 50678523 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101333 S 51 0 1 "" 21805 esv32746 10 50678421 50681816 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97545 S 51 0 1 "" 21616 dgv701n71 10 50692939 50857799 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895380,nsv895379 M 6533 2 0 PARG MS10567,SP56505 nsv508580 10 50712535 50961630 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618918,nssv620071,nssv622672 M 4 0 3 AGAP8,LOC728407,PARG NA10860,NA15510,NA18994 nsv519934 10 50719554 50764666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660287,nssv674490,nssv677257,nssv659553 M 2026 0 4 PARG nsv8640 10 50721723 50762852 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22461,nssv18656,nssv19397 M 31 1 2 Samples from several populations that are part of the HapMap project. PARG NA18563,NA18860,NA19007 esv32940 10 50721724 51158065 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93621 S 51 0 1 AGAP7,AGAP8,LOC728407,PARG 21972 esv23381 10 50723502 50762886 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18593,esv17567 M 451 0 2 PARG NA18505,NA18858 nsv8641 10 50763834 50768136 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22491,nssv18686 M 31 2 0 Samples from several populations that are part of the HapMap project. PARG NA18860,NA19007 nsv895381 10 50764666 51185540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592672 S 6533 1 0 AGAP7,AGAP8,LOC728407,PARG IS39243 nsv442181 10 50783051 50800899 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PARG dgv274e1 10 50857417 51278775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21243,essv24389,essv16432,essv20257,essv2573,essv19399,essv12274,essv20887,essv20174,essv18718,essv17981,essv11211,essv23403,essv328 M 271 0 0 AGAP7,AGAP8,LOC728407,MSMB,NCOA4,PARG,TIMM23 NA10854,NA10855,NA11832,NA11840,NA12003,NA12144,NA12707,NA12801,NA12874,NA18971,NA18990,NA19101,NA19139,NA19204 esv23237 10 50857451 50876224 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20836 S 451 3 0 PARG NA18523,NA18909,NA19225 esv23499 10 50876240 50880872 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10983 S 451 0 1 PARG NA18858 nsv8642 10 50878681 50881736 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18716 S 31 0 1 Samples from several populations that are part of the HapMap project. PARG NA19007 esv29227 10 50881690 50932313 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10348 S 451 0 2 AGAP8,LOC728407,PARG NA12878,NA18861 nsv8643 10 50882318 50923018 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18746,nssv17632,nssv21807,nssv19457,nssv19045,nssv24061 M 31 0 6 Samples from several populations that are part of the HapMap project. AGAP8,PARG NA18563,NA18942,NA18980,NA19007,NA19132,NA19221 nsv895382 10 50905140 51185540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531616 S 6533 1 0 AGAP7,AGAP8,LOC728407,PARG MS10567 nsv895383 10 50930753 51502072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525242 S 6533 0 1 AGAP6,AGAP7,FAM21A,FLJ31813,LOC728407,MSMB,NCOA4,PARG,TIMM23 SP56377 nsv8644 10 50937807 50984584 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18806,nssv22521,nssv19487 M 31 1 2 Samples from several populations that are part of the HapMap project. LOC728407,PARG NA18563,NA18860,NA19007 esv24910 10 50970749 50983278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18203 S 451 0 1 LOC728407,PARG NA18505 nsv8645 10 50990376 50990769 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22551 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC728407,PARG NA18860 nsv8647 10 50997313 50998510 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22581 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC728407,PARG NA18860 nsv8648 10 51017719 51020763 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22611,nssv18836 M 31 0 2 Samples from several populations that are part of the HapMap project. LOC728407,PARG NA18860,NA19007 nsv508583 10 51055013 51384011 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622674,nssv618921 M 4 0 2 AGAP7,MSMB,NCOA4,TIMM23 NA10860,NA18994 dgv275e1 10 51118852 51278775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5550,essv18168,essv10399,essv17792,essv14130,essv9784,essv19508 M 271 0 0 AGAP7,MSMB,NCOA4,TIMM23 NA10831,NA12057,NA12864,NA18529,NA18861,NA18863,NA19222 esv22941 10 51118892 51175352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11519,esv10028,esv20616 M 451 0 7 AGAP7 NA06985,NA12006,NA12287,NA12414,NA12878,NA18861,NA19147 nsv510992 10 51123172 51384011 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621629 S 4 0 0 AGAP7,MSMB,NCOA4,TIMM23 NA15510 dgv702n71 10 51139848 51292677 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895384,nsv895387 M 6533 2 0 AGAP7,MSMB,NCOA4,TIMM23 SP51402,SP57481 nsv825374 10 51157658 51159119 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433027 S 31 0 1 "" NA18972 nsv825375 10 51158318 51159119 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439844,nssv1425167,nssv1433838 M 31 0 3 "" AK2,NA18526,NA18537 nsv895385 10 51169661 51240158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573447 S 6533 1 0 MSMB,NCOA4 IS33372 nsv895386 10 51180767 51226455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500430 S 6533 1 0 MSMB SP50598 nsv467192 10 51180767 51264468 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542541 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MSMB,NCOA4,TIMM23 HGDP00986 nsv8650 10 51185282 51188311 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20488,nssv21867,nssv24115 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA19132,NA19144,NA19221 nsv470936 10 51185540 51264468 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544915 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MSMB,NCOA4,TIMM23 HGDP00986 nsv521269 10 51185540 51264468 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697878 S 2026 1 0 MSMB,NCOA4,TIMM23 esv2600662 10 51185946 51188669 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225528 S 1 0 1 "" NA18507 esv2019988 10 51186537 51188413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668232 S 1 0 1 "" NA18507 esv27954 10 51186740 51188228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14738 S 451 0 2 "" NA19147,NA19225 nsv6643 10 51190616 51225615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3878 S 9 1 0 MSMB NA12878 nsv895388 10 51219502 51270773 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577246 S 6533 1 0 MSMB,NCOA4,TIMM23 IS34397 nsv518071 10 51233999 51827941 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695485 S 2026 1 0 AGAP6,ASAH2,FAM21A,FAM21B,FLJ31813,NCOA4,SGMS1,TIMM23 nsv8651 10 51305028 51306694 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21481 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv8652 10 51313986 51317032 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22671 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv895389 10 51329179 51431745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592673 S 6533 1 0 AGAP6 IS39243 nsv8653 10 51336237 51337434 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22700,nssv18896 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19007 esv27601 10 51349528 51381525 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18308,esv11085 M 451 0 2 "" NA18505,NA18858 nsv8654 10 51350153 51397188 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19547,nssv22729,nssv18926 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA18860,NA19007 essv19403 10 51392922 51595172 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGAP6,FAM21A,FAM21B,FLJ31813 NA11840 nsv8655 10 51402225 51442273 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24141,nssv18956,nssv19577,nssv17692,nssv19135 M 31 0 5 Samples from several populations that are part of the HapMap project. AGAP6 NA18563,NA18942,NA18980,NA19007,NA19221 esv26750 10 51403541 51447456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12179 S 451 0 1 AGAP6 NA12878 nsv831868 10 51442401 51622394 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448500 S 95 0 1 ASAH2,FAM21A,FAM21B,FLJ31813 esv21939 10 51447841 51477656 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11113 S 451 1 0 FLJ31813 NA18909 nsv895390 10 51449274 51502072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542619 S 6533 0 1 FAM21A,FLJ31813 MS15808 nsv523210 10 51455604 51492912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698930 S 2026 0 1 FLJ31813 nsv471356 10 51497690 51563274 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548062,nssv548061,nssv548060 M 3 FAM21A,FAM21B esv23741 10 51536286 51588070 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11511,esv13476,esv19575,esv19412 M 451 11 0 FAM21A,FAM21B NA12489,NA18502,NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19114,NA19190,NA19225 nsv825377 10 51536286 51588070 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430762,nssv1430000,nssv1439845,nssv1441281,nssv1425168,nssv1433028,nssv1439055,nssv1428141,nssv1437622,nssv1421928,nssv1433839,nssv1434652,nssv1422784,nssv1436856,nssv1434581,nssv1428569,nssv1431496,nssv1435276,nssv1425897,nssv1440514,nssv1427675,nssv1429250,nssv1423603,nssv1425969,nssv1426888,nssv1438312,nssv1424399,nssv1428487,nssv1432250,nssv1436033 M 31 0 30 FAM21A,FAM21B AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv8656 10 51576024 51587777 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22817,nssv22788,nssv24167,nssv18986,nssv21342,nssv21511 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19007,NA19221,NA19240 nsv511461 10 51580055 51580298 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626075 S 1 0 1 "" 1 esv32634 10 51580154 51581065 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97237 S 51 1 0 "" 22075 nsv511441 10 51580812 51582712 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626053 S 1 0 1 "" 1 nsv521271 10 51582787 51679654 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697879 S 2026 1 0 ASAH2 nsv8659 10 51597921 51608279 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18920 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv6654 10 51691896 51721620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10759 S 9 1 0 "" NA18956 nsv522993 10 51715638 51716193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698663 S 2026 0 1 "" nsv521273 10 51721651 51867853 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697880 S 2026 1 0 SGMS1 esv2500927 10 51802087 51803616 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369219 S 1 0 1 SGMS1 NA18507 esv272512 10 51908758 51909110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580891 S 7 1 0 Samples from several populations that are part of the HapMap project. SGMS1 NA19238 esv269942 10 51908775 51908860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516768,essv2517061,essv2514893,essv2514914,essv2515943,essv2518920 M 157 6 0 Samples from several populations that are part of the HapMap project. SGMS1 NA11881,NA11931,NA12234,NA12812,NA12873,NA19239 dgv703n71 10 51930404 51961614 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895392,nsv895391 M 6533 5 0 SGMS1 IS31799,IS34489,IS38379,IS39372,IS40752 nsv467193 10 51935271 51959670 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542542 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGMS1 HGDP00262 nsv469522 10 51946570 52117595 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649565 M 265 0 10 Samples from several populations that are part of the HapMap project. SGMS1 esv1008534 10 51986965 51989778 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563892 S 3 1 0 SGMS1 HuRef nsv8660 10 51998265 52016284 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18886 S 31 1 0 Samples from several populations that are part of the HapMap project. SGMS1 NA18552 nsv8661 10 52026915 52030395 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22253 S 31 1 0 Samples from several populations that are part of the HapMap project. SGMS1 NA18972 nsv442182 10 52061462 52063834 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv895393 10 52083726 52200825 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592674 S 6533 1 0 ASAH2B IS39243 nsv8662 10 52086668 52131085 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18916,nssv24193 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18552,NA19221 nsv8663 10 52136355 52165948 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18032,nssv18354,nssv19026,nssv17555,nssv19338,nssv19607,nssv20923 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA10863,NA18504,NA18563,NA18564,NA18975 nsv831872 10 52333334 52488543 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448501 S 95 1 0 PRKG1 nsv831873 10 52380616 52569546 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448502 S 95 1 0 PRKG1 nsv25442 10 52386790 52386851 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44020 M 24 "" esv29342 10 52388473 52389992 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13061 S 451 0 3 "" NA18502,NA18523,NA18916 nsv895394 10 52463183 52536509 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539763 S 6533 1 0 PRKG1 MS14493 nsv825378 10 52525777 52578445 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441282 S 31 0 1 PRKG1 NA18969 esv2587039 10 52590346 52591912 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238721 S 1 0 1 PRKG1 NA18507 esv2603311 10 52599097 52599813 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362869 S 1 1 0 PRKG1 NA18507 dgv276e1 10 52665980 52685589 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv995,esv1222,essv15949 M 271 0 0 PRKG1 NA18515 nsv831874 10 52680363 52865514 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448503 S 95 1 0 MIR605,PRKG1 esv274305 10 52733073 52734704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579134,essv2579468 M 7 2 0 Samples from several populations that are part of the HapMap project. PRKG1 NA19239,NA19240 esv269157 10 52733084 52734710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508392,essv2493342,essv2496809,essv2494141,essv2500477,essv2497798,essv2507806,essv2505966,essv2507358,essv2501368,essv2504647,essv2496919,essv2512084,essv2498111,essv2495068 M 157 15 0 Samples from several populations that are part of the HapMap project. PRKG1 NA07051,NA12749,NA12776,NA18498,NA18502,NA18537,NA18555,NA18564,NA18861,NA18912,NA19093,NA19099,NA19190,NA19238,NA19240 dgv41n21 10 52738610 52740959 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523520,nsv519180 M 2026 0 2 PRKG1 nsv6665 10 52870013 52891499 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3879 S 9 0 1 PRKG1 NA12878 nsv511449 10 52871610 52888892 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626062 S 1 0 1 PRKG1 1 nsv512163 10 52873470 52884399 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624727 S 1 0 1 PRKG1 1 esv22108 10 52873722 52882096 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10216 S 451 0 1 PRKG1 NA12878 esv2592510 10 52879180 52880125 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171627 S 1 1 0 PRKG1 NA18507 esv271690 10 52879378 52879481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508004,essv2513222,essv2510360,essv2502518,essv2507724,essv2510733,essv2493298,essv2500665,essv2508688,essv2496055,essv2507461,essv2513348,essv2509310,essv2495697,essv2506595,essv2499186,essv2496970,essv2499612,essv2503887,essv2511530 M 157 20 0 Samples from several populations that are part of the HapMap project. PRKG1 NA07037,NA07346,NA12003,NA12249,NA12414,NA12750,NA12751,NA18501,NA18504,NA18571,NA18592,NA18603,NA18638,NA18907,NA18909,NA18916,NA19108,NA19114,NA19190,NA19225 nsv523297 10 52931994 52932147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699037 S 2026 0 1 PRKG1 nsv467195 10 52932639 52965020 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542544 S 1557 0 1 PRKG1 1782681210_A nsv895395 10 52939473 53033429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545517 S 6533 0 1 PRKG1 MS16822 nsv526624 10 52941060 52965020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702945 S 2026 0 1 PRKG1 nsv895396 10 52962522 53011545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582980 S 6533 0 1 PRKG1 IS36219 dgv277e1 10 52967781 52992342 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14909,esv1353,esv979 M 271 0 0 PRKG1 NA19129 nsv825379 10 52979008 53029595 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441283 S 31 0 1 PRKG1 NA18969 esv2331299 10 53011336 53011708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616587 S 1 0 1 PRKG1 NA18507 nsv831875 10 53025431 53219133 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448504,nssv1448505 M 95 2 0 CSTF2T,PRKG1 dgv704n71 10 53036186 53095334 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895398,nsv895397 M 6533 0 7 PRKG1 IS31205,IS31373,IS31729,IS33839,IS35229,IS39119,IS39923 nsv527322 10 53058229 53063104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703747 S 2026 0 1 PRKG1 nsv527904 10 53058229 53069906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704408 S 2026 0 1 PRKG1 nsv467196 10 53058229 53111013 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542545 S 1557 0 1 PRKG1 1780862194_A nsv467197 10 53225999 53272196 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542546 S 1557 0 1 PRKG1 1780862176_A nsv510218 10 53229140 53235140 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622251,nssv618326,nssv621414,nssv624150 M 4 0 4 PRKG1 CHM,NA10860,NA15510,NA18994 nsv507552 10 53238770 53244770 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617802,nssv620572 M 4 2 0 PRKG1 CHM,NA15510 esv4200 10 53248436 53248900 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26641 S 1 0 1 Single Asian sample YH PRKG1 YH esv6776 10 53248492 53248813 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29217 S 1 0 1 PRKG1 SJK esv32970 10 53259890 53269267 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99728 S 51 1 0 PRKG1 22217 esv1311797 10 53288185 53288185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356438 S 2 1 0 PRKG1 HuRef esv33593 10 53292936 53293166 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95572,essv93098,essv98006 M 51 0 3 PRKG1 21841,21863,22259 nsv507553 10 53327771 53333771 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617803 S 4 1 0 PRKG1 CHM esv22774 10 53369502 53371154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11203 S 451 0 1 PRKG1 NA18523 nsv519743 10 53391671 53443918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697024 S 2026 0 1 PRKG1 esv2750961 10 53396300 53680600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982572,essv6982573,essv6982574,essv6982575 M 771 1 0 PRKG1 BEC_568 nsv524814 10 53441091 53451513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700808 S 2026 0 1 PRKG1 esv9317 10 53497661 53498005 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31758 S 1 0 1 PRKG1 SJK esv1001921 10 53497676 53497993 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574258 S 3 0 1 PRKG1 HuRef esv1001281 10 53498736 53498786 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580332 S 3 0 1 PRKG1 HuRef esv270412 10 53532402 53532688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557826,essv2544081,essv2556528,essv2521829,essv2558316,essv2553824,essv2576240,essv2561811,essv2563868,essv2524309,essv2568452,essv2560177,essv2524977,essv2563101 M 157 14 0 Samples from several populations that are part of the HapMap project. PRKG1 NA07357,NA10847,NA10851,NA11992,NA11994,NA12144,NA12750,NA12763,NA12814,NA12874,NA18603,NA19129,NA19147,NA19190 nsv895399 10 53570878 53889826 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513219 S 6533 1 0 DKK1,LOC100506939,PRKG1 SP55695 esv1009864 10 53617965 53618032 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566059 S 3 0 1 PRKG1 HuRef esv1485951 10 53617976 53618044 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956213 S 2 0 1 PRKG1 HuRef esv2621844 10 53652666 53703955 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275838 S 1 0 1 PRKG1 NA18507 esv3072 10 53654230 53704026 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25513 S 1 0 1 Single Asian sample YH PRKG1 YH esv5974 10 53654267 53703943 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28415 S 1 0 1 PRKG1 SJK nsv507554 10 53662525 53668525 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619136 S 4 1 0 PRKG1 NA10860 esv27800 10 53685667 53688334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10250 S 451 0 14 PRKG1 NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12776,NA18517,NA18907,NA18909,NA18916,NA19147 dgv150n67 10 53685714 53688472 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825382,nsv825381,nsv825380 M 31 0 7 PRKG1 AK2,AK20,AK4,NA18547,NA18552,NA18570,NA18582 nsv819404 10 53685743 53688263 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419440 S 2 0 1 PRKG1 AK1 nsv825383 10 53711857 53713440 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421931 S 31 0 1 PRKG1 NA18997 esv2051136 10 53731862 53732255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763726 S 1 0 1 LOC100506939 NA18507 esv275139 10 53735827 53739342 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586089 S 1250 0 1 LOC100506939 nsv895400 10 53743300 53764365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518037 S 6533 1 0 DKK1,LOC100506939 SP57445 nsv895401 10 53901244 54200642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513220 S 6533 1 0 MBL2 SP55695 nsv895402 10 54007027 54061798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568629 S 6533 0 1 "" IS31323 nsv470937 10 54025988 54056719 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544916 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00893 esv2263786 10 54033763 54034201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903169 S 1 0 1 "" NA18507 esv5376 10 54033862 54034085 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27817 S 1 0 1 Single Asian sample YH "" YH esv267484 10 54065978 54066213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540943,essv2523315,essv2544395,essv2552227,essv2555031,essv2557259,essv2552683,essv2550151,essv2566779,essv2568983,essv2556311,essv2578398,essv2567068,essv2572170,essv2525645,essv2571124,essv2545947,essv2574270,essv2536293,essv2554499,essv2547872,essv2563147 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA07347,NA10847,NA11831,NA12004,NA12414,NA12489,NA12872,NA18501,NA18502,NA18511,NA18853,NA18861,NA18871,NA18940,NA18947,NA18973,NA18980,NA19238,NA19239,NA19240 esv274464 10 54065978 54066251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584353,essv2584543,essv2583294 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv512164 10 54107760 54111587 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624728 S 1 0 1 "" 1 esv2445849 10 54110406 54111838 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347013 S 1 0 1 "" NA18507 esv2414676 10 54111145 54111724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843371 S 1 0 1 "" NA18507 esv5375 10 54111171 54111773 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27816 S 1 0 1 Single Asian sample YH "" YH esv993370 10 54111202 54111518 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580484 S 3 0 1 "" HuRef nsv23999 10 54111203 54111519 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42577 M 24 "" esv1071177 10 54111215 54111532 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366694 S 2 0 1 "" HuRef esv9161 10 54111222 54111520 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31602 S 1 0 1 "" SJK esv2463982 10 54136400 54137522 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249048 S 1 1 0 "" NA18507 esv274420 10 54136901 54137180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579093 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268406 10 54136917 54137246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558085,essv2565781,essv2540993,essv2546619,essv2521202,essv2536688,essv2522915,essv2543816,essv2556713,essv2568262,essv2545671,essv2523386,essv2531971,essv2577301,essv2570742,essv2548305,essv2521731,essv2576774,essv2525335,essv2550295,essv2535208,essv2544457,essv2552162,essv2547241,essv2529401,essv2558254,essv2564528,essv2576389,essv2520257,essv2564100,essv2554963,essv2562145,essv2537406,essv2546866,essv2540185,essv2557087,essv2551710,essv2562634,essv2569265,essv2538873,essv2527381,essv2544945,essv2552894,essv2541386,essv2542946,essv2540249,essv2565084,essv2534662,essv2539770,essv2549568,essv2559797,essv2521990,essv2565939,essv2567753,essv2528714,essv2567516,essv2541765,essv2553319,essv2535655,essv2572592,essv2566913,essv2534060,essv2578495,essv2572940,essv2555366,essv2566598,essv2529920,essv2573848,essv2527499,essv2557688,essv2555931,essv2531362,essv2573403,essv2543268,essv2577097,essv2572150,essv2525755,essv2526742,essv2575530,essv2572636,essv2545007,essv2536239,essv2538136,essv2549045,essv2533171,essv2554743,essv2547710,essv2524928 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11831,NA11881,NA11894,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12892,NA18489,NA18501,NA18504,NA18507,NA18508,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18577,NA18579,NA18582,NA18592,NA18605,NA18608,NA18609,NA18853,NA18916,NA18940,NA18942,NA18943,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19099,NA19143,NA19172 esv1091453 10 54157320 54157320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019476 S 2 1 0 "" HuRef nsv831876 10 54162517 54319398 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448507 S 95 1 0 MBL2 nsv895403 10 54171338 54199263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578756 S 6533 0 1 MBL2 IS34896 nsv518123 10 54192640 54199263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695541 S 2026 0 1 MBL2 nsv515970 10 54194664 54201241 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683491,nssv690150,nssv666410,nssv675576,nssv675429,nssv658141,nssv703879,nssv679108,nssv662506,nssv665531,nssv659890,nssv698898 M 2026 1 11 MBL2 nsv437673 10 54195515 54206557 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467554 S 60 0 1 Samples from several populations that are part of the HapMap project. MBL2 NA18506 esv24436 10 54196631 54199256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10317 S 451 0 2 MBL2 NA18502,NA18508 esv2421950 10 54214567 54219335 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046409,essv5021639,essv5073140,essv5012086,essv5059440,essv5005770,essv5026551,essv5153866,essv5074724,essv5066685,essv5101226,essv5099111,essv5052273 M 1184 0 13 "" NA18910,NA18911,NA19107,NA19109,NA19149,NA19151,NA19214,NA19215,NA19248,NA20277,NA20300,NA20337,NA20357 nsv519422 10 54215596 54217463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660924,nssv659736,nssv682902,nssv659215,nssv676208,nssv683376,nssv656135 M 2026 0 7 "" nsv895404 10 54215596 54520713 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513221 S 6533 1 0 "" SP55695 esv23233 10 54228288 54236473 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17819 S 451 6 0 "" NA06985,NA11995,NA12004,NA12239,NA18907,NA18909 esv991409 10 54230822 54232335 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586482 S 3 1 0 "" HuRef esv1010617 10 54232053 54232532 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587147 S 3 1 0 "" HuRef nsv825384 10 54232053 54232532 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422787 S 31 1 0 "" NA18552 nsv520107 10 54234413 54238670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680463,nssv663463,nssv660820,nssv680500 M 2026 0 4 "" nsv831877 10 54235141 54434644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448508 S 95 0 1 "" nsv513009 10 54264496 54264666 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625667 S 1 1 0 "" 1 nsv24485 10 54314731 54318814 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43063 M 24 "" nsv516525 10 54349965 54365344 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675015,nssv655681,nssv656582,nssv668875 M 2026 4 0 "" esv269993 10 54351194 54351461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509814,essv2501092,essv2507154,essv2494039,essv2513245,essv2509231,essv2501514,essv2506438,essv2498820,essv2512039,essv2498177 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18516,NA18870,NA18871,NA18907,NA18909,NA19093,NA19108,NA19138,NA19238,NA19240 esv273184 10 54351195 54351517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580667,essv2579603 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv273455 10 54352244 54352465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584194,essv2583724 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271103 10 54352249 54352569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510646,essv2509764,essv2494893,essv2507149,essv2494086,essv2513279,essv2509251,essv2495708,essv2501293,essv2506968,essv2506538,essv2512153,essv2498040 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18520,NA18870,NA18871,NA18907,NA18909,NA18916,NA19093,NA19102,NA19108,NA19238,NA19240 nsv467201 10 54367629 54599009 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542547 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00717 nsv470939 10 54370789 54587345 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544917 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00717 nsv508584 10 54374771 54417388 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620079 S 4 0 1 "" NA15510 esv2750962 10 54402561 56985141 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983404,essv6989784,essv6989783,essv6989363,essv6983403 M 771 0 1 PCDH15 BEC_649 dgv705n71 10 54435614 54500693 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895405,nsv895406 M 6533 0 2 "" IS33196,IS34489 nsv508585 10 54439382 54466810 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617379 S 4 0 1 "" CHM esv25552 10 54453085 54458922 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18290 S 451 0 10 "" NA07045,NA11993,NA11995,NA12004,NA12006,NA12044,NA12749,NA18861,NA19129,NA19190 dgv26n17 10 54457068 54463336 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437676,nsv437675,nsv437674 M 60 0 3 "" NA18860,NA19129,NA19154 esv270045 10 54475944 54476273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565838,essv2575791,essv2571738,essv2546588,essv2521309,essv2542260,essv2522966,essv2571074,essv2568197,essv2545637,essv2577538,essv2521770,essv2576562,essv2550533,essv2525224,essv2535262,essv2554227,essv2544542,essv2552286,essv2520526,essv2529366,essv2564516,essv2578008,essv2519967,essv2564081,essv2555021,essv2562020,essv2537290,essv2528513,essv2546906,essv2532064,essv2578863,essv2558716,essv2539056,essv2544593,essv2562931,essv2523608,essv2553110,essv2541393,essv2538292,essv2542763,essv2540224,essv2524350,essv2564996,essv2534681,essv2561141,essv2539887,essv2549402,essv2519801,essv2560004,essv2522098,essv2566045,essv2531045,essv2532879,essv2567956,essv2528705,essv2567406,essv2541589,essv2570314,essv2563880,essv2553473,essv2535645,essv2572477,essv2559131,essv2566813,essv2533905,essv2578161,essv2573143,essv2555344,essv2533515,essv2555571,essv2566622,essv2530052,essv2573805,essv2527450,essv2556055,essv2534335,essv2522533,essv2531500,essv2573657,essv2543260,essv2576974,essv2572092,essv2526767,essv2529838,essv2575689,essv2575180,essv2524106,essv2560477,essv2549872,essv2545761,essv2551461,essv2535956,essv2537986,essv2533380,essv2554445,essv2547989,essv2524949,essv2563265,essv2558023 M 157 100 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11894,NA11919,NA11931,NA11993,NA11995,NA12003,NA12043,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12749,NA12751,NA12761,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18505,NA18510,NA18516,NA18519,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19129,NA19190,NA19225,NA19239,NA19257 esv274561 10 54475944 54476273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582182,essv2582543,essv2583155,essv2584607 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 nsv895407 10 54494747 54535967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524340 S 6533 1 0 "" SP54990 esv2547291 10 54530056 54531685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210500 S 1 0 1 "" NA18507 esv2139502 10 54530626 54531341 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782371 S 1 0 1 "" NA18507 esv3811 10 54530746 54531207 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26252 S 1 0 1 Single Asian sample YH "" YH esv7783 10 54530811 54531150 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30224 S 1 0 1 "" SJK esv999136 10 54530816 54531134 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579023 S 3 0 1 "" HuRef esv1123371 10 54530826 54531145 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275562 S 2 0 1 "" HuRef dgv151n67 10 54548978 54621267 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825385,nsv825386 M 31 0 2 "" NA18969,NA18973 esv29512 10 54553295 54554641 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20912 S 451 0 29 "" NA06985,NA07045,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv25433 10 54557986 54557986 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44011 M 24 "" nsv831878 10 54572112 54755592 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448509 S 95 1 0 "" nsv467203 10 54599009 54625302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542548 S 1557 0 1 "" 1780854477_A esv24344 10 54599344 54608111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14013 S 451 0 1 "" NA19190 esv34701 10 54599860 54607500 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980956,essv6980955 M 771 0 1 "" NA19154 nsv442575 10 54599860 54609155 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421921 10 54599860 54609159 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5074383,essv5103500,essv5120920,essv5033773,essv5014976,essv5090756,essv5070482,essv5157857,essv5070893,essv5002233,essv5082022,essv5141679,essv5145973,essv5123373,essv5003353,essv5083625,essv5049107,essv5156844,essv5040432,essv5041034,essv5088279,essv5098248,essv5086401,essv5032944,essv5118535,essv5085356,essv5114650,essv5121640,essv5008819,essv5132591,essv5048276,essv5074653,essv5020714,essv5093846,essv5069733,essv5039735,essv5049502,essv5087185,essv5135557,essv5063062,essv5002079,essv5034180,essv5050802,essv5139119,essv5095963,essv5104951,essv5045171,essv5129645,essv5083307,essv5116395,essv5093286,essv5082625,essv5130569,essv5041652,essv5033172,essv5015992,essv5129595,essv5050520,essv5036547,essv5103309,essv5141195,essv5113730,essv5137255,essv5158457,essv5028227,essv5088765,essv5155567,essv5039194,essv5125792,essv5022043,essv5126864,essv5076744,essv5159838,essv5045595,essv5006840,essv5055225 M 1184 0 76 "" NA18510,NA18862,NA18873,NA18917,NA18930,NA18934,NA19044,NA19107,NA19141,NA19144,NA19152,NA19153,NA19154,NA19178,NA19180,NA19190,NA19191,NA19200,NA19202,NA19256,NA19258,NA19311,NA19315,NA19321,NA19332,NA19350,NA19379,NA19385,NA19397,NA19429,NA19434,NA19437,NA19456,NA19462,NA19467,NA19900,NA19902,NA19908,NA19917,NA19918,NA19919,NA20294,NA20295,NA20340,NA20344,NA20345,NA20348,NA20761,NA21295,NA21336,NA21357,NA21367,NA21371,NA21384,NA21386,NA21388,NA21391,NA21434,NA21438,NA21440,NA21473,NA21489,NA21490,NA21494,NA21509,NA21520,NA21521,NA21522,NA21524,NA21525,NA21599,NA21617,NA21619,NA21647,NA21723,NA21733 nsv514558 10 54600008 54608164 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628051 S 1414 0 1 "" nsv895408 10 54608404 54669520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581411 S 6533 0 1 "" IS35572 nsv6676 10 54625521 54650612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9799 S 9 1 0 "" NA18507 nsv515785 10 54651518 54763537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652109,nssv653050 M 2026 0 2 "" dgv91n27 10 54700119 54751285 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467206,nsv467204 M 1557 0 2 "" HGDP00984,HGDP01090 nsv470940 10 54700119 54751285 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544922,nssv544925,nssv544924,nssv544919,nssv544926,nssv544923,nssv544918,nssv544927 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00466,HGDP00468,HGDP00478,HGDP00984,HGDP01032,HGDP01085,HGDP01088,HGDP01090 nsv24780 10 54756507 54756733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43358 M 24 "" esv2421567 10 54756559 54758835 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5100906,essv5077008,essv5156926,essv5125690,essv5067134,essv5031890,essv5047950,essv5079495,essv5124885,essv5041727,essv5153915,essv5117723,essv5010634,essv5107603,essv5011190 M 1184 0 15 "" NA19107,NA19109,NA19185,NA19308,NA19375,NA19712,NA20127,NA20128,NA20292,NA20336,NA21311,NA21312,NA21314,NA21320,NA21423 esv1010153 10 54756649 54756875 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582980 S 3 0 1 "" HuRef dgv278e1 10 54778135 54807367 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8032,essv12944,esv1138,esv1334 M 271 0 0 "" NA19102,NA19103 nsv516878 10 54788410 54807327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659109,nssv662096,nssv704628,nssv656648,nssv682446,nssv654635,nssv686546,nssv676922 M 2026 0 8 "" nsv8664 10 54788478 54811096 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22283,nssv20953 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA18972 essv15185 10 54789048 54807367 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv442183 10 54789051 54812107 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514559 10 54789336 54810496 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628052 S 1414 0 1 "" nsv524194 10 54807327 54816363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700077 S 2026 0 1 "" esv2750963 10 54820133 54907145 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990024,essv6984789,essv6989455 M 771 0 1 "" SPC_18 nsv520422 10 54822916 54854728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697406 S 2026 0 1 "" nsv523436 10 54868713 54922082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699192 S 2026 0 1 "" nsv510219 10 54918233 54924233 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621420,nssv618327 M 4 0 2 "" CHM,NA15510 esv29058 10 54939932 54941573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11810 S 451 0 1 "" NA18909 esv272097 10 54961382 54961713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506816,essv2505096,essv2500233,essv2499463,essv2505046,essv2506102,essv2499242,essv2505800,essv2507265,essv2513375,essv2509229,essv2507313,essv2509594,essv2499609,essv2501798,essv2498251,essv2502001,essv2495064 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11918,NA11995,NA12006,NA12044,NA12828,NA18523,NA18605,NA18861,NA18870,NA18907,NA18909,NA18912,NA19129,NA19225,NA19239,NA19240,NA19257 esv274029 10 54961383 54961706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580254,essv2579981 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv25534 10 54964564 54966496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19178 S 451 0 1 "" NA19257 nsv507555 10 54987024 54993024 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620582,nssv623152,nssv617804 M 4 3 0 "" CHM,NA15510,NA18994 esv23489 10 54988855 54998772 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20996 S 451 0 2 "" NA18502,NA19190 nsv825388 10 54990241 54998060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428488 S 31 0 1 "" AK10 nsv825389 10 54990499 54990954 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428152 S 31 0 1 "" NA18968 nsv8665 10 55011568 55031287 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17585,nssv18122,nssv19368,nssv19837,nssv17321 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA11830,NA12872,NA18564 dgv279e1 10 55027142 55201043 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9033,essv13226 M 271 0 0 "" NA19131,NA19132 dgv280e1 10 55027142 55256936 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv617,essv15761,esv802 M 271 0 0 PCDH15 NA19131 nsv515498 10 55041607 55124158 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655080,nssv653323,nssv679751,nssv701112,nssv693485,nssv665426,nssv660482,nssv674075,nssv665858,nssv676954,nssv661707,nssv673467,nssv705208 M 2026 1 12 "" nsv895409 10 55041794 55067992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530261 S 6533 0 1 "" MS10287 nsv8666 10 55041866 55129836 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19165,nssv18946,nssv19056,nssv21897,nssv19245 M 31 3 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA18537,NA18552,NA18980,NA19132 nsv467207 10 55048674 55061424 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542552 S 1557 1 0 "" 1780854574_A nsv467208 10 55048674 55093970 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542553 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00920 nsv470941 10 55048674 55124157 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544928 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00920 nsv438174 10 55048674 55124158 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470291,nssv470292 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19131,NA19132 dgv29e55 10 55053174 55149320 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34353,esv34540 M 771 0 2 "" NA19131,NA19132 essv14953 10 55053174 55149320 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19132 nsv895410 10 55055968 55247028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522098,nssv1532265 M 6533 0 2 PCDH15 MS10737,SP52723 dgv706n71 10 55060662 55088093 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895411,nsv895412 M 6533 0 2 "" IS31849,MS24785 dgv707n71 10 55065386 55119220 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895413,nsv895414 M 6533 0 2 "" IS36787,MS20872 dgv708n71 10 55065386 55143982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895420,nsv895415 M 6533 0 2 "" IS35181,IS37065 dgv709n71 10 55065386 55209960 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895416,nsv895425,nsv895421 M 6533 0 3 "" IS35498,IS40067,MS12827 nsv895417 10 55066239 55083122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568293 S 6533 0 1 "" IS31228 nsv895418 10 55077508 55099771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556310 S 6533 0 1 "" MS21905 nsv467209 10 55078860 55101088 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542554 S 1557 0 1 "" NINDS_101 dgv710n71 10 55078860 55131263 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895423,nsv895419,nsv895422 M 6533 0 3 "" IS41068,MS14848,MS17114 dgv92n27 10 55087672 55106708 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467210,nsv467211 M 1557 0 2 "" HGDP00009,HGDP01326 nsv895424 10 55093970 55143982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567096 S 6533 0 1 "" IS31044 nsv437677 10 55101088 55108496 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467558 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv437678 10 55108496 55119220 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467559 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv818761 10 55116064 55124158 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418302,nssv1418304 M 112 1 1 "" NA19092,NA19093 dgv711n71 10 55156023 55196563 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895426,nsv895427 M 6533 0 2 "" IS31285,IS36722 nsv467212 10 55169554 55209960 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542557 S 1557 0 1 "" 1780854599_A nsv895428 10 55169554 55232182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584038 S 6533 0 1 "" IS36787 nsv507556 10 55212341 55218341 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623157,nssv620587 M 4 2 0 "" NA15510,NA18994 nsv507557 10 55220288 55226288 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619142 S 4 1 0 "" NA10860 nsv895429 10 55234361 55406661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567025 S 6533 0 1 PCDH15 IS31041 nsv825390 10 55312606 55313155 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434583 S 31 1 0 PCDH15 NA18570 nsv895430 10 55315959 55406661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585028 S 6533 0 1 PCDH15 IS37226 nsv6687 10 55322850 55358166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv930 S 9 1 0 PCDH15 NA19240 nsv467213 10 55332095 55395240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542558 S 1557 0 1 PCDH15 1780854299_A nsv825391 10 55389609 55390131 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434663 S 31 1 0 PCDH15 NA18592 esv2168362 10 55395583 55396021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744483 S 1 0 1 PCDH15 NA18507 dgv14e180 10 55395731 55395835 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006100,esv991890 M 3 0 1 PCDH15 HuRef esv1589340 10 55395761 55395849 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365619 S 2 0 1 PCDH15 HuRef nsv825392 10 55425832 55426793 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424401 S 31 1 0 PCDH15 NA18582 nsv8667 10 55473112 55692653 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19509,nssv19637,nssv21541,nssv19867,nssv19398 M 31 0 5 Samples from several populations that are part of the HapMap project. PCDH15 NA11830,NA12740,NA18563,NA18564,NA19240 nsv527039 10 55536542 55540362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703415 S 2026 0 1 PCDH15 esv268650 10 55550927 55551022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2554325,essv2552466,essv2562796,essv2537019,essv2566792,essv2556189,essv2529746,essv2575143,essv2526464 M 157 9 0 Samples from several populations that are part of the HapMap project. PCDH15 NA12287,NA18502,NA18507,NA18517,NA18853,NA18871,NA19093,NA19102,NA19114 nsv467214 10 55551726 55618720 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542559 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH15 HGDP01237 esv9702 10 55563634 55564177 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32143 S 1 0 1 PCDH15 SJK nsv895431 10 55568150 55625450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600933 S 6533 0 1 PCDH15 IS41948 nsv895432 10 55592712 55629666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541442 S 6533 0 1 PCDH15 MS15312 esv1378415 10 55597559 55597559 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129735 S 2 1 0 PCDH15 HuRef esv29200 10 55609735 55717727 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20105 S 451 0 1 PCDH15 NA19190 nsv895433 10 55621179 55660913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579313 S 6533 0 1 PCDH15 IS35083 esv2654824 10 55627529 55629086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229134 S 1 0 1 PCDH15 NA18507 esv2034822 10 55628091 55628738 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678188 S 1 0 1 PCDH15 NA18507 esv268804 10 55653264 55653349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517443,essv2514118,essv2514889,essv2518438,essv2515155,essv2516357,essv2515574,essv2518006,essv2515924,essv2513606 M 157 10 0 Samples from several populations that are part of the HapMap project. PCDH15 NA07347,NA11918,NA12043,NA12234,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873 nsv6698 10 55700129 55744578 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1895 S 9 0 1 PCDH15 NA18555 nsv831879 10 55729979 55880735 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448510 S 95 1 0 PCDH15 nsv825393 10 55739664 55740425 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421932 S 31 0 1 PCDH15 NA18997 nsv467217 10 55742955 55774591 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542561 S 1557 0 1 PCDH15 NINDS_100 dgv712n71 10 55746010 55789981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895436,nsv895434,nsv895435 M 6533 0 3 PCDH15 MS25396,SP55655,SP56143 dgv713n71 10 55753897 55816767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895439,nsv895438,nsv895437 M 6533 0 5 PCDH15 IS31179,IS31359,IS37999,MS12071,SP54030 nsv818762 10 55754939 55763277 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415972 S 112 0 1 PCDH15 NA19142 dgv93n27 10 55754939 55802052 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467218,nsv467219 M 1557 0 2 PCDH15 1780854261_A,1780862194_A nsv25061 10 55762012 55762012 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43639 M 24 PCDH15 esv1228234 10 55762085 55762085 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025293 S 2 1 0 PCDH15 HuRef esv1014340 10 55762120 55762120 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872651 S 2 1 0 PCDH15 HuRef esv273645 10 55810301 55810627 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581756,essv2582748,essv2583228,essv2583993 M 7 4 0 Samples from several populations that are part of the HapMap project. PCDH15 NA12878,NA12891,NA12892,NA19238 esv269814 10 55810301 55810628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543873,essv2523401,essv2548236,essv2576597,essv2558290,essv2559447,essv2576362,essv2537264,essv2528329,essv2546794,essv2530490,essv2532202,essv2569767,essv2562523,essv2529738,essv2575552,essv2574996,essv2526533,essv2574852,essv2571406,essv2533407,essv2563123 M 157 22 0 Samples from several populations that are part of the HapMap project. PCDH15 NA07051,NA10847,NA11992,NA12004,NA12045,NA12154,NA12750,NA12776,NA12814,NA12878,NA12891,NA12892,NA18486,NA18505,NA18520,NA18909,NA19093,NA19099,NA19102,NA19114,NA19138,NA19238 nsv516160 10 55828818 55833207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692928,nssv685834,nssv683139,nssv689390,nssv670412,nssv669919,nssv666546,nssv662187,nssv683578,nssv685720 M 2026 0 10 PCDH15 esv270700 10 55851204 55851578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516974,essv2514070,essv2514787,essv2515521,essv2515124,essv2517619,essv2517259,essv2513669 M 157 8 0 Samples from several populations that are part of the HapMap project. PCDH15 NA07347,NA11931,NA12043,NA12234,NA12249,NA12812,NA12878,NA18970 esv272658 10 55851204 55851578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581508 S 7 1 0 Samples from several populations that are part of the HapMap project. PCDH15 NA12878 esv1007583 10 55851225 55851225 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577625 S 3 1 0 PCDH15 HuRef dgv714n71 10 55882373 55965826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895440,nsv895442,nsv895441 M 6533 0 3 PCDH15 IS31145,SP55138,SP57292 esv268224 10 55888029 55888341 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509679,essv2508931,essv2507216,essv2501406,essv2506460,essv2493872 M 157 6 0 Samples from several populations that are part of the HapMap project. PCDH15 NA18508,NA18522,NA18870,NA19093,NA19108,NA19210 dgv94n27 10 55906737 55943558 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467224,nsv467220 M 1557 0 2 PCDH15 1782681093_A,HGDP01263 nsv467221 10 55906737 55956074 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542565 S 1557 0 1 PCDH15 1780862176_A nsv818763 10 55909436 55943606 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418485 S 112 0 1 PCDH15 NA19193 nsv895443 10 55909436 55975650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532266 S 6533 0 1 PCDH15 MS10737 dgv95n27 10 55915357 55932832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467222,nsv467223 M 1557 0 2 PCDH15 HGDP00634,HGDP00941 nsv470942 10 55915357 55958872 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544929 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH15 HGDP01226 nsv520151 10 55917637 55932832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674402,nssv661249 M 2026 2 0 PCDH15 nsv895444 10 55924212 56024124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556627 S 6533 0 1 PCDH15 MS22104 nsv470943 10 55932286 55958872 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544930 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH15 HGDP01199 dgv715n71 10 55932832 55965826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895445,nsv895446 M 6533 0 2 PCDH15 IS36219,IS38390 nsv467226 10 55956074 55966306 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542569 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH15 HGDP01232 nsv6709 10 55973931 56018722 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8705 S 9 0 1 PCDH15 NA12156 nsv524035 10 55992483 55992554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699898 S 2026 0 1 PCDH15 nsv467228 10 55992483 56013351 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542571 S 1557 0 1 PCDH15 1780854118_A nsv467229 10 56045363 56081665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542572 S 1557 0 1 PCDH15 1782681110_A dgv281e1 10 56078033 56236143 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv764,essv14296,essv20045,esv737 M 271 0 0 PCDH15 NA07048,NA19194 nsv895447 10 56098283 56257761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546183 S 6533 0 1 PCDH15 MS17114 dgv282e1 10 56106514 56143760 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21939,essv24952,essv25130,essv25193,essv23696,essv18893 M 271 0 0 PCDH15 NA10856,NA11840,NA12057,NA12707,NA12717,NA12740 nsv8668 10 56115764 56139619 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17615,nssv18976,nssv17380,nssv19667,nssv20983,nssv17722,nssv21794,nssv19458,nssv22313,nssv24219,nssv17351,nssv20138,nssv18152,nssv19233,nssv17389,nssv19275,nssv19264,nssv21927,nssv19016,nssv19589,nssv18950,nssv18384,nssv21372,nssv19897,nssv19195,nssv19116,nssv20518,nssv21571,nssv22846 M 31 0 29 Samples from several populations that are part of the HapMap project. PCDH15 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv152n67 10 56115898 56139596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825395,nsv825394 M 31 0 3 PCDH15 NA18547,NA18969,NA18973 nsv820422 10 56115898 56139629 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420876 S 1 1 0 PCDH15 NA10851 esv259883 10 56115913 56139708 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399061,essv2397550,essv2400731,essv2397961 M 144 0 0 Samples from several populations that are part of the HapMap project. PCDH15 NA10851,NA11992,NA12717,NA12751 nsv820195 10 56115927 56139976 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418695 S 2 0 1 PCDH15 AK1 esv22182 10 56116082 56139577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15136 S 451 0 40 PCDH15 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33398 10 56118662 56139578 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98644 S 51 1 0 PCDH15 22085 nsv442577 10 56122955 56138443 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PCDH15 nsv895448 10 56126582 56196753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576162 S 6533 1 0 PCDH15 IS33890 dgv283e1 10 56127179 56138051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25141,essv18562,essv24160,essv22255,essv20844,essv21101 M 271 0 0 PCDH15 NA10851,NA10854,NA11829,NA11839,NA11992,NA12751 nsv514560 10 56127624 56138144 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628053 S 1414 1 0 PCDH15 nsv520863 10 56132477 56137569 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676568,nssv688610 M 2026 2 0 PCDH15 nsv526545 10 56132477 56224978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702859 S 2026 0 1 PCDH15 esv29623 10 56139629 56173563 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14427 S 451 6 0 PCDH15 NA11993,NA12004,NA12239,NA12828,NA18508,NA19257 esv1009504 10 56145418 56156955 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586551 S 3 1 0 PCDH15 HuRef esv1006375 10 56154337 56155768 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587059 S 3 1 0 PCDH15 HuRef dgv716n71 10 56173483 56276174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895451,nsv895449,nsv895450 M 6533 0 4 PCDH15 IS34856,IS35083,IS36219,MS18847 nsv895452 10 56178406 56370603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517333 S 6533 1 0 PCDH15 SP57254 nsv525948 10 56181286 56182893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702155 S 2026 0 1 PCDH15 nsv895453 10 56182893 56239557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580119 S 6533 0 1 PCDH15 IS35229 esv2561219 10 56186834 56188434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253791 S 1 0 1 PCDH15 NA18507 esv2321279 10 56186850 56187542 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754936 S 1 0 1 PCDH15 NA18507 esv1246910 10 56187044 56187357 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322418 S 2 0 1 PCDH15 HuRef nsv24798 10 56187045 56187357 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43376 M 24 PCDH15 nsv895454 10 56196805 56286923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582004 S 6533 0 1 PCDH15 IS35771 nsv471793 10 56219068 56219420 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646074 M 0.021 95 PCDH15 dgv96n27 10 56220433 56269303 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467230,nsv467231 M 1557 0 2 PCDH15 1780862459_A,HGDP00647 nsv516381 10 56280721 56361311 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667932,nssv675343 M 2026 0 2 "" esv2750964 10 56285200 56365890 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984012,essv6984013,essv6984014 M 771 0 1 "" BEC_745 nsv895455 10 56308925 56965968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554793 S 6533 0 1 "" MS20997 nsv470944 10 56312824 56352232 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544931 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00983 esv2206567 10 56315635 56316166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847160 S 1 0 1 "" NA18507 nsv471794 10 56315815 56316000 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646075 M 0.172 95 "" esv267451 10 56334627 56334978 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510139,essv2511389,essv2512444,essv2510318,essv2508843,essv2500342,essv2498340,essv2497163,essv2499971,essv2504550,essv2500130,essv2508433,essv2512881,essv2505420,essv2497441,essv2495954,essv2502647,essv2504790,essv2503582,essv2499546 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11829,NA11920,NA12043,NA12414,NA12878,NA12891,NA18526,NA18552,NA18558,NA18563,NA18573,NA18582,NA18609,NA18952,NA18959,NA18961,NA18965,NA19099 esv273805 10 56334629 56334822 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582146,essv2582412 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv895456 10 56343725 56377654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541507 S 6533 0 1 "" MS15341 nsv511440 10 56347177 56359184 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626052 S 1 0 1 "" 1 nsv512165 10 56352663 56354613 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624729 S 1 0 1 "" 1 esv26640 10 56352786 56354292 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21218 S 451 0 3 "" NA11931,NA11995,NA12287 nsv442578 10 56353096 56362605 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514561 10 56353448 56353624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628054 S 1414 0 1 "" nsv895457 10 56361311 56510696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591742 S 6533 0 1 "" IS39011 nsv895458 10 56401010 56478812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567026 S 6533 0 1 "" IS31041 esv5324 10 56437169 56443197 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27765 S 1 0 0 Single Asian sample YH "" YH esv9182 10 56437436 56442911 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31623 S 1 0 0 "" SJK nsv470945 10 56465084 56519675 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544933 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv895459 10 56465084 56809749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577396 S 6533 0 1 "" IS34434 dgv97n27 10 56483675 56519675 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467233,nsv467232 M 1557 0 2 "" 1782681096_A,HGDP01238 dgv98n27 10 56487560 56547766 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467235,nsv467237,nsv467234,nsv467236 M 1557 0 4 "" 1780854299_A,1780862003_A,1780862459_A,HGDP00023 dgv284e1 10 56503549 56781399 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv343,esv21,essv14131 M 271 0 0 "" NA18861 nsv831880 10 56508796 56674455 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448511 S 95 1 0 "" nsv525145 10 56517528 56518991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701215 S 2026 0 1 "" nsv8670 10 56527343 56531976 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19046 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv516038 10 56551514 56663822 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672978,nssv665859,nssv676481,nssv684982,nssv668002,nssv681072,nssv676102,nssv689325,nssv659956,nssv679792,nssv701222,nssv693892,nssv684560,nssv684388,nssv685192,nssv688987,nssv703673,nssv655727 M 2026 1 17 "" nsv467239 10 56567832 56575953 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542582 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01337 esv267916 10 56572341 56572681 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565842,essv2571820,essv2546335,essv2525962,essv2536515,essv2544065,essv2556505,essv2568355,essv2545496,essv2523087,essv2531737,essv2570364,essv2521806,essv2576575,essv2550777,essv2535100,essv2554057,essv2520475,essv2547340,essv2558534,essv2564653,essv2577990,essv2553804,essv2559625,essv2565434,essv2576472,essv2520131,essv2564297,essv2555136,essv2530548,essv2561758,essv2537465,essv2546971,essv2520893,essv2557182,essv2552510,essv2569608,essv2578706,essv2558902,essv2569808,essv2527037,essv2561348,essv2523816,essv2552929,essv2541181,essv2540319,essv2565016,essv2534693,essv2561144,essv2539729,essv2549472,essv2519522,essv2559795,essv2522122,essv2565982,essv2531143,essv2532604,essv2567769,essv2528878,essv2567613,essv2541746,essv2570229,essv2563919,essv2553474,essv2559334,essv2566873,essv2541978,essv2551127,essv2527847,essv2539290,essv2555243,essv2533497,essv2555690,essv2567161,essv2566375,essv2573941,essv2555988,essv2534499,essv2522460,essv2531666,essv2543181,essv2577083,essv2572044,essv2529591,essv2575703,essv2575101,essv2538509,essv2526384,essv2560666,essv2572762,essv2568656,essv2545137,essv2571269,essv2574178,essv2551494,essv2536020,essv2537949,essv2548946,essv2533215,essv2525139,essv2563417,essv2558121 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11840,NA11881,NA11918,NA11920,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12144,NA12154,NA12155,NA12249,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12892,NA18498,NA18501,NA18502,NA18508,NA18510,NA18516,NA18520,NA18522,NA18523,NA18537,NA18542,NA18545,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18638,NA18853,NA18856,NA18858,NA18907,NA18912,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18956,NA18959,NA18960,NA18961,NA18965,NA18970,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19143,NA19147,NA19172,NA19238,NA19240,NA19257 esv274488 10 56572341 56572681 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582177,essv2583059,essv2583929,essv2583325 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv1001698 10 56572358 56572358 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576775 S 3 1 0 "" HuRef esv1016351 10 56572375 56572375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263918 S 2 1 0 "" HuRef dgv717n71 10 56586794 56689827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895462,nsv895460,nsv895464,nsv895463 M 6533 0 9 "" IS31602,IS31679,IS31904,IS39944,IS41113,MS11467,MS12071,MS18847,MS18978 nsv895461 10 56590845 56659739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550838 S 6533 0 1 "" MS18620 dgv718n71 10 56590845 56726420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895465,nsv895466 M 6533 0 2 "" IS31179,IS31729 nsv467240 10 56590845 56883032 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542583 S 1557 0 1 "" 1780854335_A nsv818764 10 56597426 56603927 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417181 S 112 1 0 "" NA18550 nsv467242 10 56603277 56682521 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542584 S 1557 0 1 "" 1780854477_A dgv719n71 10 56617236 56689827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895468,nsv895467 M 6533 0 4 "" IS31330,IS31419,IS32150,MS17130 dgv720n71 10 56617236 56720116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895470,nsv895469 M 6533 0 3 "" IS31634,IS33616,MS12827 esv29029 10 56620075 56666311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10974 S 451 0 1 "" NA18861 dgv99n27 10 56642818 56681877 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467245,nsv467246 M 1557 0 2 "" HGDP00643,HGDP01213 dgv721n71 10 56642818 56720116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895471,nsv895472 M 6533 0 2 "" IS36787,IS38235 nsv895473 10 56663822 56720116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589254 S 6533 1 0 "" IS38330 nsv895474 10 56663822 56877102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566410 S 6533 0 1 "" IS30694 nsv467248 10 56670064 56697064 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542587 S 1557 0 1 "" NINDS_95 nsv470946 10 56670064 56705391 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544934 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00544 nsv895475 10 56670064 56726420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571177 S 6533 0 1 "" IS32615 nsv895476 10 56674259 56709068 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577772 S 6533 1 0 "" IS34555 dgv100n27 10 56674869 56706669 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467250,nsv467251 M 1557 0 2 "" HGDP00047,HGDP01197 nsv467252 10 56705391 56738482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542591 S 1557 0 1 "" NINDS_125 nsv470947 10 56705391 56962466 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544937,nssv544935,nssv544936 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890,HGDP01260,HGDP01277 nsv467253 10 56709068 56962466 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542592 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01260 nsv8671 10 56746000 56756361 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21013 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv895477 10 56748251 56877102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534152 S 6533 0 1 "" MS11467 dgv722n71 10 56759426 57004167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895479,nsv895478 M 6533 0 2 "" SP54406,SP56707 nsv895480 10 56790289 57209178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546184 S 6533 0 1 MTRNR2L5 MS17114 nsv895481 10 56798295 56877102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568376 S 6533 0 1 "" IS31259 nsv467254 10 56804994 56962466 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542593 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01277 nsv825396 10 56839133 56852645 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437623 S 31 0 1 "" NA18949 nsv818765 10 56840644 56850865 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417379 S 112 0 1 "" NA18949 nsv442184 10 56849158 56852828 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv285e1 10 56849158 56853483 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3630,esv1139,esv1271,essv931,essv3848 M 271 0 0 "" NA18949,NA18953,NA18966 nsv519508 10 56850865 56853083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696890 S 2026 0 1 "" dgv286e1 10 56872041 56988850 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18480,esv1109,esv1326 M 271 0 0 "" NA12156 nsv895482 10 56883032 57146298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550839 S 6533 0 1 MTRNR2L5 MS18620 nsv6720 10 56887586 56983615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6398 S 9 0 1 "" NA12156 esv28617 10 56889479 56961505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16507,esv16783 M 451 0 2 "" NA12156,NA18505 nsv498728 10 56889521 56961546 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585445 S 9 0 1 "" nsv433260 10 56891789 56942563 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463141 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 esv1953675 10 56893565 56893889 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566284 S 1 0 1 "" NA18507 nsv895483 10 56928445 57039123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577900 S 6533 0 1 MTRNR2L5 IS34599 nsv825397 10 56935266 56936510 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421933 S 31 0 1 "" NA18997 nsv433510 10 56949159 56960734 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463391 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 esv1007247 10 56949997 56950094 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579168 S 3 0 1 "" HuRef esv2107996 10 56972261 56973017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951929 S 1 0 1 "" NA18507 esv1002501 10 56972360 56972519 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569555 S 3 0 1 "" HuRef nsv895484 10 56993168 57059346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536540 S 6533 0 1 MTRNR2L5 MS12827 nsv895485 10 56993168 57101877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584402 S 6533 0 1 MTRNR2L5 IS36981 dgv723n71 10 56993168 57146298 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895487,nsv895486 M 6533 0 2 MTRNR2L5 IS35100,MS19634 nsv895488 10 57015785 57071755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560598 S 6533 1 0 MTRNR2L5 MS24586 nsv521258 10 57021787 57022044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688820,nssv690949 M 2026 0 2 "" esv24523 10 57023037 57027870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10482 S 451 0 2 "" NA07037,NA12878 nsv895489 10 57024715 57090423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577073 S 6533 0 1 MTRNR2L5 IS34353 dgv724n71 10 57060768 57209178 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895490,nsv895492,nsv895493 M 6533 0 3 "" IS35498,IS36722,IS39944 dgv725n71 10 57071755 57146298 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895491,nsv895495,nsv895494 M 6533 0 6 "" IS31205,IS31330,IS31563,IS35083,IS37999,MS11307 nsv467256 10 57084560 57126267 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542594 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00009 nsv437680 10 57107107 57123501 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467561 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv516121 10 57108413 57398714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656795,nssv690788,nssv701443,nssv666334 M 2026 0 4 "" dgv726n71 10 57112135 57281689 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895496,nsv895497 M 6533 0 2 "" SP52057,SP81562 nsv510220 10 57123266 57129266 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622257 S 4 0 1 "" NA10860 nsv831881 10 57174995 57366346 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448512 S 95 0 1 "" esv24075 10 57228841 57231579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13878 S 451 0 1 "" NA19147 nsv510221 10 57275827 57281827 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618328 S 4 0 1 "" CHM esv2750965 10 57304818 57449236 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980744,essv6980743,essv6980742,essv6985393 M 771 1 0 "" BEC_131 esv25368 10 57307164 57312295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10061 S 451 0 4 "" NA18508,NA19108,NA19114,NA19147 nsv6731 10 57313770 57349118 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv940 S 9 1 0 "" NA19240 nsv895498 10 57317002 57458096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587537 S 6533 1 0 "" IS38064 nsv895499 10 57349908 57458096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557907 S 6533 0 1 "" MS22971 esv2228677 10 57371844 57372566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588568 S 1 0 1 "" NA18507 esv4588 10 57371933 57372559 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27029 S 1 0 1 Single Asian sample YH "" YH esv987626 10 57372034 57372373 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574741 S 3 0 1 "" HuRef esv1452528 10 57372053 57372393 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127522 S 2 0 1 "" HuRef nsv895500 10 57388810 57476388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565098 S 6533 0 1 "" IS30363 esv21766 10 57391870 57449249 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19477,esv16511 M 451 18 0 "" NA11993,NA11995,NA12004,NA12156,NA12239,NA12749,NA18502,NA18505,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19257 nsv895501 10 57406015 57598774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551795 S 6533 0 1 "" MS18978 nsv895502 10 57417982 57769091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546185 S 6533 0 1 "" MS17114 esv2750966 10 57424600 57693400 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989283,essv6989570 M 771 0 1 "" BEC_520 esv2566930 10 57472705 57472978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272756 S 1 0 1 "" NA18507 nsv467257 10 57511522 57636336 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542595 S 1557 0 1 "" 1780862176_A esv2595804 10 57513308 57513372 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378124 S 1 0 1 "" NA18507 esv268006 10 57598564 57598854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513458 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18907 nsv831883 10 57617765 57809062 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448515,nssv1448514,nssv1448513 M 95 2 1 ZWINT esv2603744 10 57644244 57645298 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183351 S 1 1 0 "" NA18507 esv268391 10 57644602 57644687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516684,essv2514886,essv2518614,essv2518137,essv2515986,essv2514224,essv2517724,essv2518971,essv2513779,essv2518304 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12234,NA12287,NA12872,NA12873,NA12874,NA12878,NA19141,NA19143,NA19240 esv273782 10 57644602 57644687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581312,essv2581233 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv24490 10 57644639 57644639 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43068 M 24 "" nsv24513 10 57671436 57672696 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43091 M 24 "" nsv825399 10 57686325 57686798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439058 S 31 0 1 "" NA18973 dgv727n71 10 57699215 57900628 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895503,nsv895504 M 6533 3 0 ZWINT MS16835,MS19119,MS20784 nsv525189 10 57707499 57753644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701267 S 2026 0 1 "" nsv6743 10 57810962 57856511 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6399 S 9 0 1 "" NA12156 nsv831884 10 57814572 57959639 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448530,nssv1448521,nssv1448520,nssv1448516,nssv1448532,nssv1448519,nssv1448524,nssv1448522,nssv1448523,nssv1448526,nssv1448531,nssv1448525,nssv1448527,nssv1448528 M 95 0 14 "" esv25934 10 57856074 57881376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13663,esv20599 M 451 0 2 "" NA12878,NA18861 esv2459117 10 57865760 57865919 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311219 S 1 0 1 "" NA18507 nsv825400 10 57941136 58012710 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441287 S 31 0 1 "" NA18969 nsv517747 10 57966230 58143741 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691841,nssv688516,nssv679017,nssv657393,nssv682903,nssv687651,nssv655682,nssv671113,nssv653089,nssv662097 M 2026 0 10 "" esv1186912 10 57973276 57973276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888496 S 2 1 0 "" HuRef nsv509355 10 57989268 58013646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619669,nssv623657,nssv621014 M 4 3 0 "" NA10860,NA15510,NA18994 esv997189 10 58005499 58006617 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563811 S 3 1 0 "" HuRef esv267399 10 58040630 58040813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512575,essv2496711,essv2510791,essv2502925,essv2496526,essv2509046,essv2500024,essv2508332,essv2499905,essv2512687,essv2508173,essv2499277,essv2501572,essv2505320,essv2498487,essv2505841,essv2513452,essv2509165,essv2507409,essv2511710,essv2503107,essv2497905,essv2512361,essv2493124,essv2505430,essv2509379,essv2504659,essv2506850,essv2497572,essv2499739,essv2511536 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA18489,NA18498,NA18501,NA18507,NA18510,NA18522,NA18558,NA18561,NA18562,NA18577,NA18579,NA18605,NA18608,NA18853,NA18858,NA18861,NA18907,NA18909,NA18912,NA18940,NA18943,NA18945,NA18949,NA18951,NA18952,NA18953,NA19099,NA19102,NA19147,NA19225 dgv287e1 10 58160636 58359959 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16537,esv651,esv665 M 271 0 0 "" NA19210 nsv437117 10 58167576 58201241 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466998 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv470948 10 58168066 58189264 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544940,nssv544938,nssv544939 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356,HGDP00544,HGDP00655 nsv895505 10 58170063 58187279 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582983 S 6533 0 1 "" IS36219 nsv8672 10 58173632 58177406 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18182 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 dgv101n27 10 58175141 58180737 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467261,nsv467259,nsv467262 M 1557 0 3 "" 1780854299_A,1782681096_A,NINDS_106 dgv728n71 10 58175141 58232428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895506,nsv895508 M 6533 0 2 "" IS31728,MS19414 dgv102n27 10 58176378 58180737 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467264,nsv467263,nsv467265,nsv467266 M 1557 0 4 "" 1782681093_A,NINDS_104,NINDS_42,NINDS_99 nsv467267 10 58176378 58189264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542604 S 1557 0 1 "" NINDS_67 nsv519989 10 58179360 58180230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663751,nssv659957 M 2026 0 2 "" nsv437681 10 58180737 58201241 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467562 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 nsv517118 10 58181660 58189264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674730,nssv662832,nssv659172,nssv684468,nssv654929,nssv690789,nssv685997,nssv656113,nssv676103,nssv675438,nssv653235,nssv693368,nssv693053,nssv660350,nssv665004,nssv685157,nssv682042,nssv665036,nssv664247,nssv653813,nssv656755,nssv693562,nssv692049,nssv687513,nssv660714,nssv681295,nssv654586,nssv690771,nssv690863,nssv688061,nssv653324,nssv660729,nssv662009,nssv687998,nssv661668,nssv653940,nssv684016,nssv684238,nssv680531,nssv677121,nssv663392,nssv673730,nssv653620,nssv667819,nssv655440,nssv691690,nssv657681,nssv678963,nssv671623,nssv660238,nssv671978,nssv662396,nssv691744,nssv657091,nssv657408,nssv659098,nssv674552,nssv665199,nssv656649,nssv684330,nssv672400,nssv664887,nssv654602,nssv675461,nssv694007,nssv677831,nssv669059,nssv686129,nssv656772,nssv683664,nssv656606,nssv689373,nssv664155,nssv670381,nssv654858,nssv680612,nssv659934,nssv690206,nssv654898,nssv689140,nssv670504,nssv673249,nssv683411,nssv676541,nssv691446,nssv680282,nssv658061,nssv657065,nssv664390,nssv657781,nssv670413,nssv665471,nssv693394,nssv667718,nssv654277,nssv694762,nssv688304,nssv682823,nssv661047,nssv691895,nssv689479,nssv662998,nssv659974,nssv652120,nssv673122,nssv665112,nssv687125,nssv683427,nssv675069,nssv676250,nssv674767,nssv681457,nssv665161,nssv653403,nssv667649,nssv686547,nssv661315,nssv687808,nssv667210,nssv693594,nssv684794,nssv663607,nssv666014,nssv669233,nssv673579,nssv691567,nssv690302,nssv679610,nssv679162,nssv672943,nssv692773,nssv663844,nssv686991,nssv656070,nssv684248,nssv687254,nssv692575,nssv659031,nssv691323,nssv683610,nssv670929,nssv666583,nssv655782,nssv670463,nssv689866,nssv679888,nssv668484,nssv678448,nssv689449,nssv657946,nssv673137,nssv674295,nssv683479,nssv653073,nssv666713,nssv682366,nssv657196,nssv661868,nssv682919,nssv671103,nssv691055,nssv671563,nssv677637,nssv688168,nssv670530,nssv689031,nssv665759,nssv684076,nssv672504,nssv689622,nssv659110,nssv681951,nssv660116,nssv664229,nssv679967,nssv679349,nssv693623,nssv685223,nssv688040,nssv686632,nssv664401 M 2026 0 181 "" nsv8673 10 58182434 58204954 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17440 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv895507 10 58182861 58197021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499690 S 6533 0 1 "" SP50562 esv25875 10 58183067 58196919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20959 S 451 0 4 "" NA18508,NA18861,NA19129,NA19257 esv33121 10 58183659 58186479 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99615 S 51 0 1 "" 22217 nsv467268 10 58185524 58187279 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542605 S 1557 0 1 "" 1780862084_A dgv103n27 10 58185524 58189264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467274,nsv467275,nsv467273,nsv467272,nsv467276,nsv467277,nsv467270,nsv467269 M 1557 0 8 "" 1780854462_A,1780862206_A,1780862345_A,HGDP00019,HGDP00206,HGDP00237,HGDP00254,HGDP00309 nsv818767 10 58185524 58189264 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416582,nssv1416657,nssv1415983,nssv1415853,nssv1418306,nssv1418305,nssv1416656,nssv1416770,nssv1416771 M 112 0 9 "" NA11992,NA19092,NA19094,NA19116,NA19120,NA19141,NA19159,NA19161,NA19172 esv2421837 10 58185524 58196843 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5126098,essv5014882,essv5073641,essv5058945,essv5052722,essv5119629,essv5125479,essv5136536,essv5140303,essv5022816,essv5010777,essv5054806,essv5111902,essv5085589,essv5131274,essv5070121,essv5151794,essv5007606,essv5157297,essv5110468,essv5035607,essv5156124,essv5017795,essv5099803,essv5137065,essv5041515,essv5143465,essv5151314,essv5025143,essv5116338,essv5036573,essv5151688,essv5146410,essv5148061,essv5103756,essv5084990,essv5034845,essv5029807,essv5025878,essv5052934,essv5124295,essv5103613,essv5092821,essv5029534,essv5073231,essv5117901,essv5109285,essv5113216,essv5119713,essv5081017,essv5011758,essv5073865,essv5022792,essv5037728,essv5097704,essv5135835,essv5154686,essv5125586,essv5153497,essv5028963,essv5109050,essv5120697,essv5120087,essv5118139,essv5148831,essv5123273,essv5056216,essv5097768,essv5134098,essv5054528,essv5061451,essv5141171,essv5070744,essv5031143,essv5102901,essv5115338,essv5072246,essv5086456,essv5154068,essv5134807,essv5093482,essv5012606,essv5142295,essv5047923,essv5056628,essv5050723,essv5144702,essv5018831,essv5113373,essv5030716,essv5074251,essv5065102,essv5017141,essv5035477,essv5119637,essv5008531 M 1184 0 96 "" NA07056,NA11831,NA11843,NA11992,NA12283,NA12341,NA12342,NA12375,NA12753,NA12763,NA12802,NA12815,NA18508,NA18861,NA18862,NA18863,NA18867,NA18871,NA18924,NA18933,NA19094,NA19095,NA19097,NA19098,NA19116,NA19120,NA19128,NA19129,NA19141,NA19159,NA19161,NA19172,NA19184,NA19186,NA19257,NA19311,NA19352,NA19403,NA19443,NA19469,NA19470,NA19473,NA19649,NA19650,NA19708,NA19904,NA19921,NA20281,NA20289,NA20294,NA20295,NA20334,NA20335,NA20341,NA20345,NA20360,NA20504,NA20521,NA20756,NA20772,NA20790,NA20801,NA20805,NA20850,NA20854,NA20858,NA20866,NA20869,NA20870,NA20874,NA20879,NA20890,NA20895,NA20903,NA20906,NA20911,NA21100,NA21117,NA21137,NA21355,NA21378,NA21415,NA21418,NA21448,NA21453,NA21454,NA21457,NA21493,NA21523,NA21525,NA21527,NA21582,NA21583,NA21597,NA21685,NA21739 nsv467278 10 58185524 58227959 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542615 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00307 nsv528656 10 58185524 58227959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705290 S 2026 0 1 "" nsv470950 10 58185524 58229453 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544941 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00591 nsv442579 10 58186381 58196843 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438175 10 58186930 58195193 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470294,nssv470293 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA12815 nsv467279 10 58187279 58189264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542616 S 1557 0 1 "" 1780862403_A nsv895509 10 58213774 58263301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586313,nssv1569417,nssv1579478,nssv1539483 M 6533 0 4 "" IS31576,IS35111,IS37738,MS14339 esv1000061 10 58216156 58217122 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563683 S 3 1 0 "" HuRef nsv6754 10 58233572 58267149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv942 S 9 1 0 "" NA19240 essv15155 10 58237729 58314518 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19210 nsv527403 10 58247808 58247858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703839 S 2026 0 1 "" nsv895510 10 58272012 58342539 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559647 S 6533 1 0 "" MS24073 dgv729n71 10 58310656 58504548 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895512,nsv895511 M 6533 0 2 "" IS41819,IS41971 nsv895513 10 58342539 58649798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580120 S 6533 0 1 "" IS35229 dgv30e55 10 58382083 58424500 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34304,esv35101 M 771 2 0 "" NA10856,NA12264 nsv895514 10 58400020 58442806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517414 S 6533 0 1 "" SP57270 nsv6765 10 58407269 58441165 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8722 S 9 1 0 "" NA12156 nsv442185 10 58410019 58421992 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818768 10 58420209 58421439 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417774 S 112 1 0 "" NA12264 nsv895515 10 58472428 58583657 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531153 S 6533 1 0 "" MS10351 essv3446 10 58492250 58535262 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18956 dgv288e1 10 58492250 58618213 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv969,esv1071,essv4513 M 271 0 0 "" NA18623 nsv895516 10 58506956 58554500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570576 S 6533 0 1 "" IS32167 dgv730n71 10 58506956 58661587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895525,nsv895521,nsv895526,nsv895517,nsv895527,nsv895528 M 6533 0 7 "" IS41982,MS12071,MS13400,MS15036,MS17697,MS18847,SP57367 nsv6776 10 58509173 58540509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1896 S 9 0 1 "" NA18555 nsv895518 10 58513957 58544204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515069 S 6533 0 1 "" SP56119 dgv731n71 10 58513957 58588905 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895519,nsv895522 M 6533 0 2 "" IS37621,IS41807 dgv732n71 10 58513957 58623966 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895524,nsv895523,nsv895520 M 6533 0 4 "" IS30522,IS31419,IS32166,IS35788 nsv8674 10 58514705 58521628 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22875,nssv21957,nssv18414 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18860,NA18975,NA19132 nsv498729 10 58515463 58521152 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585446 S 9 0 1 "" nsv514562 10 58516180 58518088 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628055 S 1414 0 1 "" esv2421366 10 58516320 58519894 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5089491,essv5013989,essv5091914,essv5071686,essv5048094,essv5105887,essv5023070,essv5099888,essv5127093,essv5029589,essv5049364,essv5150300,essv5146095,essv5056390,essv5109179,essv5095318,essv5072596,essv5019491,essv5040391,essv5004237,essv5008611,essv5035454,essv5028390,essv5151309,essv5020304,essv5154789,essv5011764,essv5027505,essv5128951,essv5054023,essv5084933,essv5049515,essv5074100,essv5016951,essv5099661,essv5118215,essv5112638,essv5019826,essv5133178,essv5049032,essv5130285,essv5074807,essv5058613,essv5121015,essv5091245,essv5102656,essv5132497,essv5121637,essv5138007,essv5057733,essv5119977,essv5086470,essv5060924,essv5004537,essv5092141,essv5154245,essv5105646,essv5112995,essv5077601,essv5099742,essv5050824,essv5011876,essv5017221,essv5132979,essv5160139,essv5023767,essv5144791 M 1184 0 67 "" NA10836,NA12275,NA17975,NA17986,NA18155,NA18529,NA18534,NA18543,NA18550,NA18555,NA18573,NA18623,NA18627,NA18631,NA18639,NA18670,NA18740,NA18859,NA18860,NA18934,NA18939,NA18948,NA18956,NA18964,NA18971,NA18975,NA19066,NA19076,NA19086,NA19372,NA19430,NA19435,NA19445,NA19711,NA20281,NA20505,NA20872,NA20873,NA20876,NA20908,NA21100,NA21104,NA21109,NA21300,NA21301,NA21311,NA21312,NA21314,NA21317,NA21320,NA21333,NA21357,NA21390,NA21399,NA21402,NA21404,NA21405,NA21423,NA21434,NA21489,NA21490,NA21509,NA21526,NA21527,NA21580,NA21693,NA21717 nsv442186 10 58516320 58519894 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv289e1 10 58516581 58535262 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1046,essv5853,essv3329,essv984,essv1815 M 271 0 0 "" NA18555,NA18948,NA18964,NA18971,NA18975 nsv510222 10 58534683 58540683 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621431 S 4 0 1 "" NA15510 dgv290e1 10 58552764 58618213 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2552,essv2368,essv5426,essv4318,essv193,essv2415 M 271 0 0 "" NA18542,NA18564,NA18951,NA18974,NA18994,NA18995 dgv31e55 10 58553178 58618213 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34551,esv34869,esv35059,esv34583 M 771 0 4 "" NA18564,NA18572,NA18974,NA18995 dgv104n27 10 58555652 58606559 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467281,nsv467280 M 1557 0 2 "" HGDP00883,HGDP00968 dgv733n71 10 58555652 58608558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895542,nsv895538,nsv895536,nsv895537,nsv895531,nsv895535,nsv895534,nsv895529,nsv895530,nsv895541 M 6533 0 155 "" IS35083,IS36990,MS10098,MS10517,MS10566,MS10843,MS11641,MS11738,MS12544,MS12648,MS12837,MS12895,MS12986,MS13351,MS13383,MS14526,MS14544,MS14681,MS15220,MS15232,MS16038,MS16746,MS16828,MS20042,MS20850,MS20854,MS21036,MS21130,MS21188,MS21343,MS21465,MS21477,MS21758,MS21925,MS22008,MS22207,MS22998,MS23057,MS23423,MS23532,MS23627,MS23770,MS24172,MS24877,MS25223,MS25486,MS25789,MS25839,SP50177,SP50548,SP50653,SP50679,SP50694,SP50708,SP50823,SP50927,SP51007,SP51040,SP51049,SP51140,SP51161,SP51178,SP51192,SP51483,SP51493,SP51506,SP52058,SP52060,SP52081,SP52095,SP52376,SP52419,SP52571,SP52579,SP52634,SP52688,SP52721,SP52787,SP53003,SP53048,SP53051,SP53252,SP53324,SP53332,SP53490,SP53528,SP53550,SP53560,SP53859,SP53972,SP53988,SP54043,SP54060,SP54139,SP54286,SP54312,SP54362,SP54401,SP54468,SP54551,SP54838,SP54861,SP54862,SP54892,SP54905,SP54967,SP54976,SP55302,SP55304,SP55462,SP55558,SP55642,SP55807,SP55843,SP56032,SP56089,SP56125,SP56215,SP56331,SP56377,SP56380,SP56797,SP56965,SP57009,SP57022,SP57037,SP57147,SP57336,SP57379,SP57401,SP57408,SP57445,SP57577,SP57580,SP57654,SP57686,SP57701,SP57817,SP57852,SP57965,SP58077,SP58161,SP58206,SP58259,SP58305,SP80960,SP81003,SP81040,SP81145,SP81152,SP81157,SP81228,SP81280,SP81471,SP81574 dgv734n71 10 58562281 58594479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895533,nsv895532 M 6533 0 2 "" SP50826,SP52868 dgv735n71 10 58562281 58620594 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895539,nsv895540 M 6533 0 3 "" MS13759,MS23236,SP57205 nsv8675 10 58563614 58607223 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19488,nssv17449,nssv22343 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18564,NA18572,NA18972 nsv819714 10 58567824 58607150 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418729 S 2 0 1 "" AK1 esv2421453 10 58567923 58606915 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083574,essv5082343,essv5038477,essv5025745,essv5149027,essv5022517,essv5072535,essv5147127,essv5058468,essv5153024,essv5122411,essv5113243,essv5094798,essv5086127,essv5122456,essv5017240,essv5103313,essv5067836,essv5150405,essv5036974,essv5060570,essv5041874,essv5121805,essv5115167 M 1184 0 24 "" NA17969,NA17995,NA18109,NA18139,NA18141,NA18534,NA18542,NA18546,NA18564,NA18572,NA18623,NA18640,NA18642,NA18702,NA18749,NA18943,NA18951,NA18972,NA18974,NA18994,NA18995,NA19062,NA19068,NA19075 nsv825401 10 58571392 58607118 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430764,nssv1433029,nssv1440515,nssv1436857,nssv1438313 M 31 0 5 "" AK16,NA18542,NA18564,NA18951,NA18972 nsv442580 10 58572176 58606913 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv32e55 10 58572176 58606915 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34557,esv34631 M 771 0 2 "" NA18542,NA18972 esv269773 10 58572178 58572337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496663,essv2495451,essv2511445,essv2499360,essv2507976,essv2512413,essv2513228,essv2495915,essv2508352,essv2502591,essv2507720,essv2505007,essv2508816,essv2500290,essv2502810,essv2494259,essv2501010,essv2507191,essv2509627,essv2511975,essv2498235,essv2495749,essv2495092,essv2513082 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA10847,NA11894,NA11919,NA11920,NA11994,NA12003,NA12043,NA12249,NA12489,NA12749,NA12750,NA12751,NA12828,NA12878,NA12891,NA12892,NA18502,NA18856,NA18870,NA19129,NA19238,NA19240 esv274530 10 58572185 58572505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581949,essv2582569,essv2583109,essv2583935,essv2583776 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 nsv514563 10 58572436 58605704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628056 S 1414 0 1 "" esv2561975 10 58573307 58574494 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286808 S 1 1 0 "" NA18507 esv274318 10 58573980 58574319 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580896,essv2579680 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270447 10 58573985 58574274 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496872,essv2511735,essv2510783,essv2494298,essv2504326,essv2494712,essv2513315,essv2507347,essv2498876,essv2497531,essv2501896,essv2498114 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18501,NA18502,NA18505,NA18519,NA18907,NA18912,NA19138,NA19147,NA19239,NA19240 nsv520720 10 58575853 58606559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674788,nssv690558 M 2026 0 2 "" dgv6n64 10 58575853 58615726 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818769,nsv818770 M 112 0 4 "" NA18542,NA18951,NA18972,NA18994 dgv105n27 10 58575853 58618213 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467286,nsv467285 M 1557 0 2 "" HGDP00751,HGDP00957 dgv291e1 10 58575853 58618213 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3673,essv2948 M 271 0 0 "" NA18943,NA18972 nsv470951 10 58575853 58640012 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544942 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00883 nsv467287 10 58583657 58640012 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542624 S 1557 0 1 "" 1780862109_A dgv736n71 10 58608558 58983878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895544,nsv895545,nsv895543 M 6533 0 5 MIR3924 IS30368,IS30409,IS35768,IS40024,IS41774 esv2645457 10 58610602 58611601 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238272 S 1 1 0 "" NA18507 esv1005151 10 58611037 58611037 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568040 S 3 1 0 "" HuRef esv28530 10 58622202 58623540 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10679 S 451 0 2 "" NA18909,NA19099 esv2518087 10 58684709 58686321 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205062 S 1 0 1 "" NA18507 esv3090 10 58685153 58685641 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25531 S 1 0 1 Single Asian sample YH "" YH esv1737736 10 58685232 58685574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699987 S 2 0 1 "" HuRef nsv25128 10 58685233 58685574 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43706 M 24 "" nsv895546 10 58755852 58906633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586305 S 6533 1 0 "" IS37734 nsv438176 10 58761341 58769683 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470302,nssv470303,nssv470298,nssv470304,nssv470295,nssv470299,nssv470300,nssv470301 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA06991,NA06993,NA07000,NA07029,NA10835,NA12248,NA12707,NA12717 nsv527941 10 58761744 58783409 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704449 S 2026 1 0 "" nsv895547 10 58792835 58857794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568545 S 6533 0 1 "" IS31302 nsv895548 10 58828991 58880806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517353 S 6533 0 1 "" SP57266 esv269048 10 58853351 58853639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512561,essv2496334,essv2506042,essv2498501,essv2505935,essv2507282,essv2513420,essv2501487,essv2510843,essv2497610,essv2502248 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18523,NA18858,NA18861,NA18870,NA18907,NA19093,NA19116,NA19147,NA19257 nsv895549 10 58857794 58942411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536808 S 6533 0 1 "" MS12968 nsv512166 10 58878558 58882077 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624730 S 1 0 1 "" 1 nsv511456 10 58879409 58881790 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626070 S 1 0 1 "" 1 nsv8676 10 58879568 58882168 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21601,nssv18980,nssv21462,nssv20548,nssv17470,nssv21043,nssv19539 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA12740,NA12802,NA18502,NA18504,NA18853,NA19144,NA19240 nsv471795 10 58879748 58881875 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646076 M 0.570 95 "" esv25617 10 58879765 58881893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15811 S 451 0 19 "" NA07037,NA07045,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12878,NA18502,NA18511,NA18858,NA18907,NA18909,NA19108,NA19114,NA19147,NA19190,NA19240 nsv514564 10 58880048 58881424 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628057 S 1414 0 1 "" nsv442581 10 58880511 58880997 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421552 10 58880511 58881704 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079522,essv5151163,essv5047042,essv5037125,essv5050975,essv5104145,essv5090842,essv5063852,essv5098548,essv5056531,essv5064265,essv5131368,essv5127874,essv5029035,essv5161066,essv5115559,essv5010785,essv5110906,essv5020036,essv5065073,essv5141284,essv5024041,essv5137661,essv5024037,essv5135274,essv5001956,essv5149169,essv5098805,essv5030897,essv5124301,essv5068900,essv5069859,essv5057311,essv5050193,essv5017205,essv5024797,essv5087992,essv5017729,essv5038134,essv5059218,essv5023221,essv5070691,essv5017797,essv5124564,essv5156131,essv5110274,essv5154820,essv5077279,essv5044010,essv5154183,essv5146699,essv5052989,essv5104958,essv5141779,essv5006663,essv5077265,essv5029858,essv5031254,essv5071994,essv5051581,essv5024035,essv5048536,essv5098665,essv5147645,essv5142073,essv5077571,essv5026248,essv5112188,essv5027350,essv5114601,essv5110546,essv5010468,essv5064576,essv5006776,essv5004773,essv5038661,essv5157496,essv5125543,essv5002440,essv5111917,essv5086171,essv5144064,essv5078504,essv5059588,essv5060376,essv5103807,essv5073529,essv5074960,essv5114401,essv5041798,essv5091656,essv5009997,essv5040708,essv5156594,essv5075067,essv5096805,essv5118845,essv5068448,essv5053865,essv5033735,essv5025452,essv5073060,essv5071569,essv5075308,essv5144450,essv5070112,essv5049958,essv5062888,essv5033582,essv5079714,essv5089802,essv5077807,essv5087119,essv5068290,essv5084734,essv5141570,essv5085546,essv5092498,essv5080821,essv5143599,essv5155706,essv5063347,essv5098615,essv5156242,essv5118987,essv5061029,essv5127972,essv5054466,essv5064332,essv5097138,essv5007781,essv5075994,essv5128554,essv5065138,essv5146857,essv5082914,essv5079820,essv5079887,essv5073596,essv5130520,essv5014293,essv5117304,essv5051793,essv5068308,essv5137215,essv5061550,essv5062131,essv5056919,essv5038701,essv5029805,essv5134306,essv5103348,essv5089606,essv5051284,essv5150624,essv5004842,essv5088953,essv5057207,essv5077238,essv5118203,essv5122646,essv5023518,essv5004385,essv5052712,essv5153340,essv5036183,essv5109922,essv5073609,essv5121130,essv5057253,essv5130169,essv5091420,essv5122910,essv5082346,essv5045976,essv5066822,essv5071636,essv5089064,essv5004278,essv5077399,essv5114815,essv5077543,essv5146445,essv5015516,essv5011131,essv5056431,essv5142058,essv5130032,essv5076415,essv5029048,essv5066360,essv5154173,essv5081641,essv5044512,essv5129818,essv5112692,essv5120652,essv5143172,essv5064786,essv5084315,essv5013959,essv5105941,essv5123119,essv5010425,essv5047465,essv5075148,essv5082765,essv5097612,essv5100328,essv5107830,essv5156518,essv5124878,essv5002889,essv5112927,essv5011760,essv5130107,essv5085238,essv5056803,essv5025057,essv5045157,essv5121615,essv5044575,essv5065888,essv5072314,essv5078469,essv5143918,essv5093561,essv5120172,essv5087431,essv5092122,essv5047298,essv5059777,essv5119273,essv5034323,essv5009337,essv5094618,essv5031798,essv5109039,essv5068847,essv5040615,essv5021630,essv5122849,essv5100980,essv5087138,essv5115129,essv5160318,essv5045780,essv5114619,essv5128212,essv5110916,essv5109936,essv5064767,essv5027477,essv5054972,essv5040038,essv5027983,essv5071685,essv5150473,essv5080375,essv5118297,essv5116492,essv5025504,essv5041686,essv5132585,essv5082162,essv5058914,essv5010078,essv5160453,essv5109866,essv5040847,essv5076837,essv5111716,essv5018161,essv5063247,essv5099602,essv5115835,essv5016276,essv5087731,essv5090749,essv5005680,essv5008748,essv5115997,essv5106248,essv5087351,essv5151664,essv5046528,essv5037140,essv5026439,essv5146172,essv5048586,essv5124458,essv5143589,essv5115744,essv5024870,essv5128513,essv5158671,essv5116832,essv5027989,essv5013299,essv5071944,essv5151293,essv5037223,essv5066797,essv5149868,essv5078394,essv5160413,essv5097108,essv5012978,essv5066183,essv5087873,essv5084685,essv5029993,essv5112610,essv5019997,essv5097590,essv5034100,essv5142706,essv5061887,essv5097179,essv5123398,essv5011645,essv5073692,essv5159843,essv5010512,essv5004792,essv5041319,essv5068772,essv5083626,essv5056756,essv5092704,essv5036286,essv5024931,essv5064862,essv5125928,essv5054294,essv5100729,essv5046368,essv5116148,essv5080292,essv5159449,essv5107623,essv5064569,essv5009836,essv5138980,essv5014913,essv5159886,essv5135771,essv5078098,essv5129796,essv5013917,essv5044274,essv5062772,essv5128435,essv5105209,essv5137412,essv5082917,essv5143982,essv5046784,essv5050139,essv5019917,essv5040635,essv5092917,essv5054816,essv5023297,essv5157765,essv5003128,essv5146539 M 1184 0 367 "" NA06984,NA06989,NA06991,NA06993,NA06995,NA06997,NA07031,NA07037,NA07045,NA07347,NA07349,NA07435,NA10836,NA10837,NA10838,NA10850,NA10854,NA10855,NA10861,NA10865,NA11831,NA11839,NA11843,NA11892,NA11992,NA11994,NA12003,NA12043,NA12044,NA12156,NA12239,NA12272,NA12273,NA12275,NA12287,NA12341,NA12342,NA12344,NA12347,NA12348,NA12386,NA12399,NA12739,NA12740,NA12749,NA12750,NA12751,NA12753,NA12763,NA12802,NA12812,NA12815,NA12832,NA12842,NA12843,NA12873,NA12878,NA12891,NA12892,NA17970,NA17986,NA18101,NA18152,NA18153,NA18162,NA18486,NA18487,NA18488,NA18497,NA18498,NA18501,NA18503,NA18504,NA18509,NA18511,NA18518,NA18519,NA18520,NA18534,NA18550,NA18571,NA18576,NA18613,NA18619,NA18639,NA18670,NA18704,NA18740,NA18749,NA18852,NA18853,NA18854,NA18858,NA18871,NA18872,NA18873,NA18875,NA18909,NA18911,NA18912,NA18913,NA18914,NA18933,NA18935,NA18940,NA18960,NA18967,NA18971,NA19027,NA19031,NA19036,NA19041,NA19046,NA19102,NA19103,NA19108,NA19109,NA19114,NA19115,NA19116,NA19121,NA19122,NA19138,NA19139,NA19143,NA19144,NA19147,NA19148,NA19150,NA19160,NA19185,NA19190,NA19191,NA19192,NA19193,NA19198,NA19204,NA19206,NA19208,NA19209,NA19213,NA19215,NA19224,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19310,NA19311,NA19314,NA19315,NA19347,NA19352,NA19360,NA19371,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19391,NA19393,NA19429,NA19434,NA19439,NA19446,NA19448,NA19466,NA19467,NA19658,NA19676,NA19677,NA19678,NA19713,NA19725,NA19759,NA19761,NA19771,NA19772,NA19794,NA19834,NA19900,NA19901,NA19982,NA19983,NA19985,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20289,NA20290,NA20292,NA20301,NA20317,NA20332,NA20333,NA20334,NA20335,NA20337,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20357,NA20508,NA20517,NA20519,NA20525,NA20527,NA20529,NA20541,NA20542,NA20543,NA20586,NA20752,NA20754,NA20757,NA20759,NA20760,NA20766,NA20768,NA20771,NA20786,NA20790,NA20792,NA20801,NA20807,NA20808,NA20816,NA20845,NA20849,NA20850,NA20856,NA20862,NA20870,NA20871,NA20875,NA20876,NA20877,NA20882,NA20883,NA20888,NA20896,NA20898,NA20900,NA20904,NA20907,NA20908,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21099,NA21100,NA21101,NA21103,NA21104,NA21106,NA21107,NA21108,NA21111,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21137,NA21142,NA21144,NA21295,NA21301,NA21302,NA21307,NA21309,NA21317,NA21320,NA21336,NA21344,NA21352,NA21356,NA21363,NA21364,NA21365,NA21366,NA21367,NA21379,NA21381,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21405,NA21408,NA21414,NA21415,NA21424,NA21425,NA21447,NA21451,NA21454,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21480,NA21485,NA21488,NA21489,NA21490,NA21491,NA21509,NA21510,NA21512,NA21513,NA21514,NA21521,NA21526,NA21527,NA21529,NA21574,NA21580,NA21582,NA21596,NA21599,NA21611,NA21613,NA21616,NA21631,NA21632,NA21634,NA21636,NA21686,NA21693,NA21716,NA21717,NA21722,NA21723,NA21733,NA21738,NA21784 nsv895550 10 58887377 59207779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561374 S 6533 0 1 "" MS24968 esv6952 10 58926776 58927886 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29393 S 1 0 0 "" SJK nsv512167 10 58926866 58928099 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624731 S 1 0 1 "" 1 nsv820370 10 58927194 58927657 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420877 S 1 0 1 "" NA10851 nsv825402 10 58927194 58927657 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426263 S 31 1 0 "" NA18547 esv1007011 10 58927194 58932281 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587278 S 3 0 1 "" HuRef esv1750375 10 58927667 58927951 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190429 S 2 0 0 "" HuRef esv8956 10 58927793 58927995 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31397 S 1 0 0 "" SJK nsv895551 10 58942570 59033201 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561922 S 6533 1 0 "" MS25294 nsv895552 10 59043308 59142586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563322 S 6533 0 1 "" MS25963 nsv895553 10 59044873 59255592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551875 S 6533 0 1 "" MS18999 esv1000733 10 59122527 59124177 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586832 S 3 0 1 "" HuRef esv1410381 10 59123362 59123362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628420 S 2 1 0 "" HuRef esv2012129 10 59123503 59123872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891256 S 1 0 1 "" NA18507 esv1376030 10 59123660 59123800 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593271 S 2 0 1 "" HuRef esv1267301 10 59178870 59178870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069186 S 2 1 0 "" HuRef esv21796 10 59190472 59236700 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11945 S 451 1 0 "" NA19257 dgv292e1 10 59214388 59489499 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6503,esv726,esv574,essv6403 M 271 0 0 "" NA18572 dgv737n71 10 59232184 59446787 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895556,nsv895555,nsv895554 M 6533 0 3 "" SP52298,SP55695,SP57455 nsv8677 10 59240783 59441804 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19305,nssv19294,nssv24245,nssv17479 M 31 1 3 Samples from several populations that are part of the HapMap project. "" NA10839,NA18537,NA18572,NA19221 esv35063 10 59242689 59442194 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979565,essv6979564,essv6979563,essv6979562,essv6988199 M 771 0 1 "" NA18572 nsv831885 10 59260246 59432219 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448535,nssv1448534,nssv1448536,nssv1448533 M 95 1 3 "" esv2540807 10 59299663 59301103 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286974 S 1 0 1 "" NA18507 nsv895557 10 59343720 59384107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515215,nssv1518927,nssv1501334 M 6533 0 3 "" SP50904,SP56138,SP58561 nsv895558 10 59352070 59401763 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523682 S 6533 1 0 "" SP54138 nsv819216 10 59401544 59403417 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419347 S 2 1 0 "" AK1 nsv437682 10 59401605 59402787 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467563 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 esv22574 10 59413712 59414551 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19646 S 451 1 0 "" NA18511 nsv6787 10 59436038 59469683 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5291 S 9 1 0 "" NA19129 nsv8678 10 59489461 59494169 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19263 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07048 nsv895559 10 59508962 59652531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557866 S 6533 0 1 IPMK MS22959 esv259814 10 59510112 59562720 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399458 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18858 esv25240 10 59510226 59562590 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19926 S 451 1 0 "" NA18858 nsv520358 10 59516124 59558004 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676072,nssv663205 M 2026 2 0 "" nsv523614 10 59516124 59611458 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699410 S 2026 1 0 "" nsv895560 10 59568644 59652531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557431 S 6533 0 1 IPMK MS22677 nsv519325 10 59608342 59611458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681053,nssv655421,nssv683220 M 2026 0 3 "" nsv520102 10 59608342 59613240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697224 S 2026 0 1 "" nsv895561 10 59699169 59743596 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518967 S 6533 1 0 CISD1 SP80924 esv28592 10 59942272 59942930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18921 S 451 0 1 BICC1 NA07045 nsv508586 10 59945952 60051055 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618930 S 4 0 1 BICC1 NA10860 esv32825 10 59947227 59947686 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98219 S 51 0 1 BICC1 21772 esv23021 10 59949745 59951406 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17207 S 451 0 1 BICC1 NA19257 esv32723 10 59950327 59951410 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98175,essv96987,essv99135,essv93699,essv99703 M 51 0 5 BICC1 21772,21817,21938,21972,22217 nsv831886 10 60095348 60270652 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448538,nssv1448537 M 95 2 0 BICC1,LOC728640 nsv825403 10 60104244 60119137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421934 S 31 0 1 BICC1 NA18997 nsv6798 10 60145651 60179241 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8729 S 9 1 0 BICC1,LOC728640 NA12156 esv9199 10 60166276 60166327 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31640 S 1 1 0 BICC1 SJK esv268218 10 60187167 60187342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493272,essv2496156,essv2513539,essv2505672 M 157 4 0 Samples from several populations that are part of the HapMap project. BICC1 NA18504,NA18511,NA18907,NA19005 nsv831887 10 60280752 60517946 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448539 S 95 1 0 "" dgv293e1 10 60388039 60641367 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv582,essv15078,esv777 M 271 0 0 PHYHIPL NA19129 essv13631 10 60482549 60641367 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PHYHIPL NA19127 nsv6809 10 60483158 60527939 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8736 S 9 0 1 "" NA12156 essv14908 10 60506139 60566271 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19129 esv22576 10 60524133 60578443 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18654 S 451 1 0 "" NA19129 esv34715 10 60525900 60609068 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978501,essv6978500,essv6978499,essv6986636 M 771 1 0 PHYHIPL NA19127 essv11381 10 60525908 60566271 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19127 esv34756 10 60525908 60566300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978512,essv6978511 M 771 1 0 "" NA19129 nsv433412 10 60527948 60571609 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463293 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19129 dgv738n71 10 60529416 60578474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895563,nsv895562 M 6533 0 3 "" IS31617,IS34599,IS37325 esv7575 10 60595433 60595513 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30016 S 1 1 0 "" SJK nsv831888 10 60613661 60808257 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448541 S 95 1 0 FAM13C,PHYHIPL esv2460033 10 60654501 60655454 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388761 S 1 1 0 PHYHIPL NA18507 esv269485 10 60654881 60655223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558154,essv2565585,essv2541067,essv2571839,essv2546537,essv2521053,essv2525959,essv2542599,essv2536421,essv2522679,essv2544182,essv2570805,essv2556686,essv2568348,essv2545585,essv2577539,essv2570488,essv2548601,essv2521711,essv2576886,essv2550817,essv2550377,essv2535324,essv2554013,essv2544283,essv2520669,essv2547396,essv2529156,essv2558445,essv2564436,essv2577922,essv2565425,essv2576260,essv2519965,essv2564080,essv2554871,essv2530885,essv2561925,essv2537517,essv2528303,essv2547069,essv2540173,essv2520773,essv2557462,essv2557065,essv2552700,essv2551650,essv2532107,essv2562669,essv2578508,essv2536823,essv2569720,essv2561500,essv2544638,essv2562917,essv2523765,essv2552927,essv2541209,essv2542785,essv2540406,essv2524503,essv2565127,essv2534820,essv2561121,essv2539739,essv2549469,essv2519562,essv2559849,essv2521960,essv2566218,essv2531239,essv2532760,essv2567816,essv2529033,essv2567457,essv2541582,essv2569995,essv2563937,essv2553396,essv2535598,essv2572584,essv2559302,essv2551144,essv2568908,essv2578222,essv2555423,essv2533495,essv2555762,essv2566359,essv2530065,essv2574001,essv2527470,essv2522579,essv2573369,essv2543346,essv2571953,essv2525714,essv2526775,essv2529479,essv2575009,essv2538749,essv2526335,essv2524228,essv2530234,essv2545120,essv2549962,essv2536265,essv2538002,essv2548655,essv2533323,essv2554800,essv2524938,essv2563549 M 157 113 0 Samples from several populations that are part of the HapMap project. PHYHIPL NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18510,NA18517,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18940,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18960,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19102,NA19108,NA19114,NA19129,NA19141,NA19172,NA19225 esv272198 10 60654893 60655229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581752,essv2582365,essv2582983 M 7 3 0 Samples from several populations that are part of the HapMap project. PHYHIPL NA12878,NA12891,NA12892 esv1646035 10 60654927 60654927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763902 S 2 1 0 PHYHIPL HuRef nsv528505 10 60714605 60720345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705112 S 2026 0 1 FAM13C nsv507558 10 60739059 60745059 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619160,nssv620599,nssv623163 M 4 3 0 FAM13C NA10860,NA15510,NA18994 nsv467289 10 60745219 60809875 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542625 S 1557 0 1 FAM13C 1780854039_A esv269602 10 60747902 60748244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494828,essv2513558,essv2497593,essv2498037,essv2502127 M 157 5 0 Samples from several populations that are part of the HapMap project. FAM13C NA18519,NA18907,NA19147,NA19240,NA19257 esv273164 10 60747936 60748021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581104 S 7 1 0 Samples from several populations that are part of the HapMap project. FAM13C NA19240 esv4266 10 60766541 60769291 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26707 S 1 0 1 Single Asian sample YH FAM13C YH nsv508587 10 60820903 60948851 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622684 S 4 0 1 "" NA18994 nsv895564 10 60890929 60997508 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576163 S 6533 1 0 "" IS33890 esv8391 10 60936101 60936165 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30832 S 1 1 0 "" SJK dgv294e1 10 60994141 61003145 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1058,esv1244,essv9294 M 271 0 0 "" NA18852 nsv818771 10 60994582 61001093 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417901 S 112 0 1 "" NA18852 dgv739n71 10 61017543 61049404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895566,nsv895565 M 6533 0 12 "" SP50746,SP51040,SP51293,SP54048,SP54087,SP54725,SP56342,SP56457,SP57328,SP57642,SP80938,SP81003 dgv27n17 10 61024452 61039986 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437684,nsv437683 M 60 0 2 "" NA19103,NA19211 nsv521848 10 61028388 61033830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694623 S 2026 0 1 "" nsv818772 10 61028388 61035111 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418174,nssv1418175 M 112 0 2 "" NA19143,NA19145 dgv28n17 10 61028388 61042363 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437119,nsv437118 M 60 0 2 "" NA10831,NA10846 dgv106n27 10 61028388 61048410 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467291,nsv467290 M 1557 0 2 "" HGDP00820,HGDP01251 nsv821391 10 61031343 61035135 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420878 S 1 0 1 "" NA10851 esv999013 10 61031579 61036698 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564665 S 3 0 1 "" HuRef nsv819463 10 61031686 61035002 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419526 S 2 1 0 "" AK1 nsv825404 10 61031752 61034932 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435277,nssv1436034,nssv1434674 M 31 3 0 "" NA18566,NA18592,NA18942 esv27424 10 61031953 61035063 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10899 S 451 29 1 "" NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv517433 10 61032706 61033830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657634,nssv667080,nssv678801,nssv670930,nssv678584,nssv655837,nssv687439,nssv689785,nssv681016,nssv677062,nssv652007,nssv691011,nssv660767,nssv654536,nssv688290 M 2026 0 15 "" esv2421736 10 61032706 61035270 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143191,essv5153862,essv5061344,essv5077414,essv5056655,essv5039311,essv5135787,essv5024183,essv5042178,essv5031365,essv5054869,essv5106315,essv5117199,essv5028577,essv5053131,essv5123713,essv5072299,essv5106076,essv5152302,essv5139229,essv5055834,essv5120651,essv5028785,essv5097160,essv5099883,essv5049395,essv5060133,essv5015726,essv5125747,essv5146465,essv5113572,essv5011363,essv5021810,essv5051639,essv5052314,essv5035437,essv5105027,essv5030957,essv5069987,essv5049146,essv5046849,essv5028996,essv5068958,essv5034927,essv5101987,essv5088333,essv5089804,essv5030605,essv5055088,essv5075243,essv5089160,essv5102990,essv5139237,essv5116408,essv5146663,essv5098401,essv5145358,essv5030617,essv5110745,essv5027924,essv5106200,essv5033667,essv5110000,essv5017185,essv5133253,essv5098671,essv5109273,essv5088246,essv5085191,essv5133144,essv5115110,essv5108846,essv5006472,essv5047237,essv5085640,essv5025011,essv5056282,essv5082563,essv5099276,essv5074395,essv5030667,essv5124423,essv5135212,essv5104871,essv5090447,essv5016463,essv5092142,essv5047410,essv5119689,essv5018636,essv5070209,essv5146975,essv5058634,essv5051611,essv5026546,essv5010797,essv5145037,essv5151143,essv5013553,essv5054489,essv5051666,essv5160131,essv5067860,essv5028589,essv5119843,essv5153039,essv5101370,essv5038331,essv5090393,essv5064476,essv5012173,essv5121342,essv5068414,essv5091221,essv5028932,essv5045602,essv5040936,essv5139510,essv5049302,essv5098559,essv5110028,essv5133591,essv5107640,essv5090467,essv5034939,essv5013253,essv5080087,essv5153661,essv5032983,essv5013973,essv5051879,essv5101055,essv5031129,essv5028944,essv5017428,essv5034179,essv5081540,essv5058212,essv5016321,essv5082436,essv5123115,essv5011058,essv5132506,essv5097259,essv5080914,essv5139640,essv5007311,essv5046943,essv5099532,essv5114465,essv5016219,essv5025768,essv5134261,essv5005328,essv5059398,essv5137907,essv5059083,essv5036805,essv5049623,essv5045974,essv5123720,essv5013140,essv5134679,essv5121595,essv5008197,essv5129515,essv5143670,essv5109203,essv5043866,essv5005127,essv5118818,essv5050986,essv5115607,essv5100250,essv5025466,essv5102727,essv5060216,essv5011440,essv5011470,essv5040679,essv5075260,essv5157356,essv5080476,essv5160800,essv5139990,essv5090689,essv5009117,essv5049737,essv5127806,essv5085314,essv5119233,essv5135764,essv5041513,essv5085190,essv5065937,essv5053331,essv5064425,essv5158511,essv5008474,essv5002137,essv5121829,essv5093537,essv5149103,essv5019117,essv5056778,essv5071532,essv5104270,essv5156440,essv5015847,essv5091927,essv5064097,essv5050052,essv5023298,essv5052218,essv5062923,essv5003161,essv5022153,essv5045580,essv5095314,essv5009761,essv5153683,essv5142835 M 1184 0 222 "" NA06985,NA06995,NA06997,NA07022,NA07037,NA07045,NA07055,NA07056,NA10831,NA10846,NA10855,NA11831,NA11840,NA11893,NA11992,NA11993,NA12003,NA12006,NA12057,NA12144,NA12155,NA12272,NA12282,NA12283,NA12286,NA12343,NA12383,NA12399,NA12767,NA12777,NA12818,NA12829,NA12892,NA18487,NA18501,NA18504,NA18506,NA18508,NA18510,NA18517,NA18757,NA18858,NA18874,NA18875,NA18910,NA18923,NA19036,NA19046,NA19095,NA19096,NA19097,NA19098,NA19099,NA19102,NA19103,NA19113,NA19115,NA19116,NA19120,NA19128,NA19140,NA19142,NA19143,NA19171,NA19172,NA19173,NA19178,NA19179,NA19180,NA19193,NA19200,NA19202,NA19206,NA19208,NA19209,NA19211,NA19213,NA19226,NA19247,NA19308,NA19309,NA19319,NA19324,NA19332,NA19334,NA19347,NA19350,NA19360,NA19371,NA19372,NA19375,NA19377,NA19379,NA19383,NA19385,NA19390,NA19391,NA19398,NA19429,NA19430,NA19431,NA19435,NA19437,NA19438,NA19444,NA19445,NA19446,NA19451,NA19452,NA19456,NA19457,NA19463,NA19468,NA19471,NA19700,NA19702,NA19703,NA19705,NA19719,NA19721,NA19725,NA19818,NA19828,NA19900,NA19901,NA19904,NA19917,NA19918,NA19982,NA20126,NA20288,NA20317,NA20319,NA20334,NA20335,NA20336,NA20340,NA20348,NA20360,NA20516,NA20534,NA20539,NA20542,NA20544,NA20752,NA20753,NA20757,NA20758,NA20769,NA20771,NA20792,NA20797,NA20850,NA20858,NA20870,NA20873,NA20882,NA20887,NA20891,NA20897,NA20900,NA20904,NA20911,NA21086,NA21090,NA21100,NA21102,NA21107,NA21108,NA21111,NA21117,NA21297,NA21302,NA21303,NA21314,NA21359,NA21362,NA21367,NA21368,NA21382,NA21384,NA21387,NA21389,NA21391,NA21402,NA21420,NA21421,NA21434,NA21435,NA21441,NA21447,NA21457,NA21473,NA21476,NA21477,NA21491,NA21494,NA21513,NA21519,NA21522,NA21523,NA21525,NA21528,NA21583,NA21611,NA21613,NA21616,NA21619,NA21620,NA21631,NA21634,NA21647,NA21648,NA21686,NA21689,NA21716,NA21718,NA21719,NA21723,NA21776,NA21784,NA21826 nsv527838 10 61033830 61035111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704336 S 2026 0 1 "" nsv442582 10 61034136 61035270 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514566 10 61034148 61035336 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628059 S 1414 0 1 "" esv2518410 10 61034988 61036562 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255881 S 1 0 1 "" NA18507 esv2086934 10 61035309 61035989 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959231 S 1 0 1 "" NA18507 esv1379851 10 61035500 61035819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294088 S 2 0 1 "" HuRef esv8428 10 61035506 61035809 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30869 S 1 0 1 "" SJK esv5192 10 61040312 61042166 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27633 S 1 0 0 Single Asian sample YH "" YH esv7114 10 61040578 61042121 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29555 S 1 0 0 "" SJK esv1583704 10 61111193 61111427 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325357 S 2 0 1 SLC16A9 HuRef nsv825405 10 61120911 61122194 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423604 S 31 0 1 SLC16A9 NA18999 esv2613224 10 61123292 61124840 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275356 S 1 0 1 SLC16A9 NA18507 nsv819969 10 61135888 61136020 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419103 S 2 0 1 SLC16A9 AK1 esv29571 10 61311672 61312423 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13888 S 451 2 2 CCDC6 NA11995,NA12006,NA18916,NA19257 nsv820824 10 61311672 61312423 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420879 S 1 0 1 CCDC6 NA10851 esv1123063 10 61311861 61312105 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081767 S 2 0 1 CCDC6 HuRef nsv25344 10 61326659 61326659 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43922 M 24 CCDC6 esv1003254 10 61603937 61615255 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565605 S 3 0 1 ANK3 HuRef esv275322 10 61736505 61740656 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585256 S 1250 0 1 ANK3 esv268335 10 61794833 61795140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557943,essv2575881,essv2571676,essv2546286,essv2521135,essv2525888,essv2536643,essv2523060,essv2543821,essv2570911,essv2545533,essv2577221,essv2570618,essv2548451,essv2521851,essv2525530,essv2550323,essv2535089,essv2544339,essv2552004,essv2520286,essv2529310,essv2558590,essv2564772,essv2578084,essv2553646,essv2559556,essv2576393,essv2564249,essv2555099,essv2530852,essv2537551,essv2528265,essv2547094,essv2530522,essv2520977,essv2557523,essv2551877,essv2569615,essv2550010,essv2558891,essv2536934,essv2540289,essv2564955,essv2549346,essv2519590,essv2559967,essv2530896,essv2567621,essv2541666,essv2563876,essv2559359,essv2566973,essv2550900,essv2543438,essv2556362,essv2562208,essv2578471,essv2533737,essv2556106,essv2534305,essv2522634,essv2531366,essv2573477,essv2543312,essv2576924,essv2575705,essv2538623,essv2560795,essv2545019,essv2571139,essv2536264,essv2537951,essv2533023,essv2554807,essv2547701,essv2525164,essv2563117 M 157 78 0 Samples from several populations that are part of the HapMap project. ANK3 NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA12003,NA12043,NA12044,NA12045,NA12144,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18504,NA18508,NA18511,NA18516,NA18517,NA18552,NA18558,NA18564,NA18566,NA18570,NA18573,NA18582,NA18592,NA18603,NA18638,NA18853,NA18858,NA18870,NA18871,NA18909,NA18940,NA18944,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA19099,NA19108,NA19137,NA19172,NA19238 esv273876 10 61794836 61795141 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582236,essv2582496,essv2583009,essv2584220 M 7 4 0 Samples from several populations that are part of the HapMap project. ANK3 NA12878,NA12891,NA12892,NA19238 esv1506468 10 61794864 61794864 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745615 S 2 1 0 ANK3 HuRef dgv740n71 10 61890250 61968148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895568,nsv895567 M 6533 0 3 ANK3 IS35622,IS36131,IS36640 nsv825406 10 61898282 61975397 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441288 S 31 0 1 ANK3 NA18969 esv1484659 10 61899134 61899134 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914116 S 2 1 0 ANK3 HuRef esv268954 10 61904914 61905200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510999,essv2495453,essv2504421,essv2507996 M 157 4 0 Samples from several populations that are part of the HapMap project. ANK3 NA11831,NA11919,NA11993,NA12003 nsv528497 10 61909509 61940043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705102 S 2026 0 1 ANK3 nsv527065 10 61926291 61929230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703444 S 2026 0 1 ANK3 nsv525521 10 61926291 61936152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701654 S 2026 0 1 ANK3 nsv895569 10 61926291 61968148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550228 S 6533 0 1 ANK3 MS18375 esv1037467 10 61974800 61974800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772561 S 2 1 0 ANK3 HuRef nsv8679 10 62097051 62098330 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24271,nssv21103,nssv21824 M 31 0 3 Samples from several populations that are part of the HapMap project. ANK3 NA18504,NA18517,NA19221 nsv471796 10 62097209 62098334 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646077 M 0.064 95 ANK3 esv25700 10 62097314 62098437 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21370 S 451 0 5 ANK3 NA18502,NA18517,NA18523,NA18916,NA19108 nsv525275 10 62182490 62189035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701376 S 2026 0 1 "" esv22222 10 62290385 62293962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14234 S 451 0 1 "" NA19114 esv2575101 10 62444183 62445436 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212617 S 1 0 1 "" NA18507 nsv825407 10 62943559 63055133 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441289 S 31 0 1 "" NA18969 esv4111 10 62955842 62956348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26552 S 1 0 1 Single Asian sample YH "" YH nsv525421 10 63006323 63071428 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701545 S 2026 1 0 "" nsv525654 10 63017048 63059924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701809 S 2026 1 0 "" nsv523818 10 63073241 63082645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699649 S 2026 0 1 "" dgv42n21 10 63073241 63163730 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528134,nsv527596 M 2026 0 2 C10orf107 esv1510214 10 63110262 63110262 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933965 S 2 1 0 C10orf107 HuRef esv991698 10 63235397 63236454 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564190 S 3 0 1 "" HuRef nsv518486 10 63235561 63246292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695926 S 2026 0 1 "" nsv8681 10 63326563 64101295 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17500,nssv19335,nssv19569 M 31 3 0 Samples from several populations that are part of the HapMap project. ARID5B,RTKN2,ZNF365 NA12740,NA12802,NA18537 esv2191372 10 63413432 63414011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983060 S 1 0 1 ARID5B NA18507 esv4603 10 63413602 63413906 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27044 S 1 0 1 Single Asian sample YH ARID5B YH nsv24157 10 63413621 63413798 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42735 M 24 ARID5B esv988038 10 63413623 63413800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583147 S 3 0 1 ARID5B HuRef nsv831889 10 63417310 63605446 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448542 S 95 0 1 ARID5B esv34099 10 63450951 63857570 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ARID5B,RTKN2,ZNF365 nsv6820 10 63574336 63607977 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5292 S 9 1 0 "" NA19129 nsv831890 10 63597548 63751512 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448543,nssv1448544 M 95 2 0 RTKN2 nsv6831 10 63614566 63647712 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv943 S 9 1 0 RTKN2 NA19240 nsv467292 10 63660780 63730274 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542628 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RTKN2 HGDP00133 esv1708152 10 63710783 63710861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703457 S 2 0 1 "" HuRef nsv521637 10 63729869 63730274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698255 S 2026 0 1 "" esv1666691 10 63799609 63799665 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611437 S 2 0 1 "" HuRef esv1114781 10 63800747 63800747 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962638 S 2 1 0 "" HuRef nsv467293 10 63826116 63894106 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542629 S 1557 1 0 ZNF365 NINDS_56 nsv825408 10 63829276 63830438 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432253 S 31 0 1 ZNF365 AK20 nsv831891 10 63838913 64013484 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448545 S 95 1 0 ZNF365 esv271402 10 63903358 63903646 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544153,essv2576837,essv2535195,essv2559723,essv2520247,essv2544595,essv2553040,essv2540520,essv2565199,essv2549309,essv2519603,essv2565944,essv2528881,essv2572384,essv2559126,essv2573169,essv2555600,essv2531540,essv2577030 M 157 19 0 Samples from several populations that are part of the HapMap project. ZNF365 NA11992,NA12154,NA12249,NA12776,NA12815,NA18526,NA18542,NA18552,NA18558,NA18564,NA18566,NA18572,NA18579,NA18609,NA18638,NA18942,NA18945,NA18961,NA18970 esv33660 10 63927175 63928711 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98091 S 51 0 1 ZNF365 22259 esv29409 10 64095670 64100915 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21007 S 451 0 1 ZNF365 NA19114 esv271965 10 64129985 64130230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565787,essv2543847,essv2545697,essv2531903,essv2570755,essv2577724,essv2565285,essv2555034,essv2520905,essv2556993,essv2552592,essv2569423,essv2537003,essv2538903,essv2561342,essv2561167,essv2549375,essv2528825,essv2569023,essv2543725,essv2527997,essv2562324,essv2534175,essv2578244,essv2573989,essv2556033,essv2571995,essv2575410,essv2575125,essv2560744,essv2524185,essv2574621,essv2572798,essv2560353,essv2545757,essv2574518,essv2551554 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11992,NA12003,NA12006,NA12044,NA12761,NA12812,NA12872,NA18498,NA18501,NA18502,NA18508,NA18517,NA18519,NA18523,NA18562,NA18564,NA18579,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18951,NA18956,NA18973,NA19099,NA19102,NA19116,NA19129,NA19138,NA19143,NA19190,NA19239,NA19240,NA19257 esv274678 10 64129985 64130234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578913,essv2579771 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv516259 10 64179035 64186312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654636,nssv675622,nssv673597,nssv683772,nssv680930,nssv667136,nssv678088,nssv676073,nssv689326,nssv685027,nssv690437,nssv661316 M 2026 0 12 "" esv270440 10 64180869 64181206 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514600,essv2514738,essv2515086,essv2514354 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12234,NA12812,NA12874 nsv895570 10 64230476 64244577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509970 S 6533 0 1 ADO,EGR2 SP54956 esv1506761 10 64358677 64358677 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884903 S 2 1 0 "" HuRef nsv512168 10 64376228 64378473 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624732 S 1 0 1 "" 1 esv34029 10 64493977 64507300 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv510223 10 64683176 64689176 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618329 S 4 0 1 JMJD1C CHM nsv831892 10 64713092 64768321 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448554,nssv1448546,nssv1448548,nssv1448550,nssv1448549,nssv1448547,nssv1448553,nssv1448552 M 95 1 7 JMJD1C nsv895571 10 64950824 65054573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574071 S 6533 0 1 REEP3 IS33507 esv22964 10 64950908 64951822 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19368 S 451 0 2 REEP3 NA07037,NA07045 esv2334532 10 64993252 64993667 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511210 S 1 0 1 REEP3 NA18507 esv272741 10 65026027 65026162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579233,essv2579702 M 7 2 0 Samples from several populations that are part of the HapMap project. REEP3 NA19239,NA19240 nsv521888 10 65101308 65101772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694660 S 2026 0 1 "" nsv519002 10 65111759 65113760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696471 S 2026 0 1 "" esv997431 10 65120872 65124455 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564364 S 3 0 1 "" HuRef nsv520761 10 65131799 65149421 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697595 S 2026 1 0 "" nsv526157 10 65131799 65149421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702416 S 2026 0 1 "" nsv821018 10 65178755 65181136 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420881 S 1 0 1 "" NA10851 nsv825410 10 65178755 65181136 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433840 S 31 0 1 "" NA18526 esv22262 10 65179245 65181130 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21127 S 451 14 1 "" NA07037,NA12004,NA12006,NA12156,NA12239,NA12749,NA15510,NA18502,NA18858,NA18907,NA18909,NA19108,NA19129,NA19147,NA19190 esv8128 10 65179257 65181460 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30569 S 1 0 1 "" SJK nsv825411 10 65179365 65181136 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436035 S 31 1 0 "" NA18566 nsv820108 10 65179392 65181260 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419346 S 2 1 0 "" AK1 nsv521236 10 65184410 65189562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697861 S 2026 0 1 "" esv2545895 10 65212476 65212915 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227043 S 1 1 0 "" NA18507 nsv513010 10 65212802 65213079 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625668 S 1 1 0 "" 1 nsv895572 10 65223076 65250164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518163 S 6533 0 1 "" SP57469 esv1738080 10 65241177 65241177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086814 S 2 1 0 "" HuRef esv1339526 10 65241203 65241203 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803854 S 2 1 0 "" HuRef nsv24010 10 65248266 65249109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42588 M 24 "" nsv831894 10 65276087 65434532 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448556,nssv1448555,nssv1448557 M 95 3 0 "" nsv895573 10 65276235 65368946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519739 S 6533 1 0 "" SP50522 nsv507559 10 65293804 65299804 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619163,nssv617805,nssv623173,nssv620602 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv8085 10 65303489 65304398 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30526 S 1 0 1 "" SJK nsv825412 10 65303505 65304213 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430765,nssv1440516,nssv1424402 M 31 0 3 "" AK16,NA18564,NA18582 nsv521959 10 65303906 65304118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694728 S 2026 0 1 "" esv28835 10 65339807 65342958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16059 S 451 0 1 "" NA18508 nsv520566 10 65459484 65572333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697490 S 2026 0 1 "" nsv519093 10 65473376 65487798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696566 S 2026 0 1 "" nsv831895 10 65572224 65748693 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448560,nssv1448559,nssv1448558 M 95 3 0 "" nsv825413 10 65690484 65785538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441290 S 31 0 1 "" NA18969 nsv510224 10 65691401 65697401 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621438 S 4 0 1 "" NA15510 nsv6842 10 65697598 65721279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10761 S 9 1 0 "" NA18956 nsv895574 10 65718694 65833622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544809 S 6533 0 1 "" MS16521 nsv6854 10 65732917 65765262 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8743 S 9 0 1 "" NA12156 esv2750967 10 65751090 65922000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989752,essv6983197 M 771 0 1 "" BEC_554 dgv153n67 10 65777346 65778177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825416,nsv825414,nsv825415 M 31 0 3 "" AK20,NA18592,NA18972 nsv825417 10 65780531 65781225 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432255 S 31 0 1 "" AK20 nsv895575 10 65809697 65946301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582005 S 6533 0 1 "" IS35771 nsv522701 10 65833622 65858834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706112 S 2026 0 1 "" nsv467296 10 65842310 65858834 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542630 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00106 nsv6865 10 65860062 65891285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6400 S 9 1 0 "" NA12156 esv24051 10 65895994 65896738 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11727 S 451 0 4 "" NA18511,NA19190,NA19225,NA19240 esv2475532 10 65939115 65940690 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198728 S 1 0 1 "" NA18507 nsv831896 10 65988685 66153735 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448561 S 95 1 0 "" nsv895576 10 66031571 66275138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555742 S 6533 1 0 ANXA2P3 MS21528 nsv895577 10 66031571 66512350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551672 S 6533 1 0 ANXA2P3 MS18970 nsv523379 10 66039832 66096831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699128 S 2026 0 1 "" nsv525558 10 66053372 66088232 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701697 S 2026 1 0 "" esv23633 10 66068601 66070766 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10500,esv19728 M 451 0 12 "" NA11894,NA12239,NA12287,NA15510,NA18505,NA18508,NA18909,NA18916,NA19129,NA19147,NA19190,NA19257 dgv154n67 10 66068767 66070876 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825419,nsv825422,nsv825421,nsv825423,nsv825418 M 31 0 21 "" AK12,AK16,AK18,AK2,AK20,AK4,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18592,NA18942,NA18947,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 esv1585826 10 66090137 66090350 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332611 S 2 0 1 "" HuRef nsv521837 10 66092550 66096831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694610 S 2026 0 1 "" nsv437685 10 66102105 66120490 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467566 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 esv2422182 10 66105900 66109037 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083766,essv5035109,essv5053697,essv5056385,essv5058725,essv5052541,essv5013397,essv5044084,essv5011427,essv5074721,essv5118636,essv5101700,essv5144893,essv5038955,essv5047275,essv5041903,essv5116278,essv5044030,essv5141448,essv5055964,essv5111326 M 1184 0 21 "" NA19099,NA19107,NA19108,NA19141,NA19142,NA19150,NA19151,NA19236,NA19256,NA19315,NA19347,NA19385,NA19393,NA20335,NA20341,NA21352,NA21367,NA21381,NA21390,NA21436,NA21683 nsv442188 10 66105900 66109037 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438177 10 66106212 66107646 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470305,nssv470306 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19099,NA19100 nsv895578 10 66165101 66262472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563142 S 6533 0 1 ANXA2P3 MS25885 esv268060 10 66173246 66173541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523017,essv2531815,essv2532930 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11931,NA12006 nsv526280 10 66250585 66254124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702559 S 2026 0 1 "" nsv24531 10 66299034 66306237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43109 M 24 "" esv1702749 10 66354466 66354540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599445 S 2 0 1 "" HuRef esv259591 10 66390247 66390552 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393769,essv2394265 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv259857 10 66390262 66390560 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394760,essv2399080,essv2400326,essv2395617,essv2394963,essv2400069,essv2398330,essv2394840,essv2396411,essv2397213,essv2395979,essv2400471 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11881,NA18501,NA18511,NA18861,NA19093,NA19114,NA19138,NA19225,NA19238,NA19240 nsv6876 10 66394570 66425938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5293 S 9 1 0 "" NA19129 nsv831897 10 66414664 66601022 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448563 S 95 1 0 "" dgv107n27 10 66442050 66802305 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467297,nsv467298,nsv467300 M 1557 3 0 "" HGDP00076,HGDP00145,HGDP00155 nsv470952 10 66455652 66802305 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544944 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00076 nsv819286 10 66506411 66518751 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418629 S 2 1 0 "" AK1 esv2513471 10 66506452 66507505 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180276 S 1 1 0 "" NA18507 nsv825424 10 66506967 66512096 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439060,nssv1423608 M 31 2 0 "" NA18973,NA18999 esv272251 10 66507036 66507273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579262,essv2579391 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268698 10 66507043 66507361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558233,essv2576027,essv2540854,essv2546226,essv2525837,essv2536800,essv2522928,essv2570832,essv2556605,essv2545659,essv2577518,essv2570481,essv2548352,essv2550646,essv2525529,essv2535207,essv2544414,essv2520416,essv2547587,essv2529172,essv2558321,essv2564399,essv2577966,essv2553735,essv2563967,essv2554890,essv2530843,essv2562146,essv2528448,essv2546862,essv2540051,essv2551698,essv2532110,essv2538913,essv2569706,essv2527197,essv2561525,essv2544686,essv2562818,essv2523820,essv2541304,essv2540441,essv2524478,essv2534951,essv2561102,essv2560058,essv2522273,essv2566247,essv2532733,essv2567904,essv2529003,essv2567473,essv2541858,essv2569908,essv2563850,essv2553501,essv2535686,essv2559052,essv2542089,essv2551032,essv2568855,essv2556451,essv2539356,essv2534134,essv2578248,essv2555270,essv2533453,essv2567140,essv2530047,essv2557753,essv2556060,essv2522510,essv2531519,essv2573453,essv2577081,essv2571905,essv2575341,essv2538607,essv2560761,essv2560380,essv2571316,essv2545829,essv2551611,essv2535918,essv2533136 M 157 85 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA10851,NA11830,NA11831,NA11881,NA11918,NA11920,NA11931,NA11993,NA11994,NA12003,NA12043,NA12044,NA12045,NA12155,NA12156,NA12249,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12828,NA12872,NA12873,NA12874,NA12891,NA12892,NA18489,NA18504,NA18505,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18552,NA18555,NA18561,NA18562,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18858,NA18861,NA18871,NA18912,NA18916,NA18940,NA18943,NA18944,NA18947,NA18949,NA18953,NA18956,NA18960,NA18961,NA18964,NA18970,NA18973,NA19102,NA19108,NA19116,NA19190,NA19238,NA19239,NA19257 esv1089864 10 66507075 66507075 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267776 S 2 1 0 "" HuRef nsv831898 10 66510550 66685864 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448566,nssv1448567,nssv1448564,nssv1448565 M 95 1 3 "" esv987731 10 66511606 66512096 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586891 S 3 1 0 "" HuRef nsv820495 10 66511606 66512096 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420882 S 1 0 1 "" NA10851 nsv825425 10 66511606 66512096 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425171,nssv1424403,nssv1430768,nssv1430002,nssv1433033,nssv1437624,nssv1426518,nssv1431499,nssv1433842,nssv1440520,nssv1436859,nssv1429253,nssv1435279,nssv1426889,nssv1428489,nssv1434707,nssv1425972 M 31 16 1 "" AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,NA18526,NA18542,NA18547,NA18564,NA18582,NA18592,NA18942,NA18949,NA18972 nsv6887 10 66513473 66548545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv944 S 9 1 0 "" NA19240 esv1406277 10 66517378 66517378 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995100 S 2 1 0 "" HuRef esv1411681 10 66517691 66517691 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138022 S 2 1 0 "" HuRef esv1165223 10 66518037 66518037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074967 S 2 1 0 "" HuRef esv2620572 10 66525786 66527371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232355 S 1 0 1 "" NA18507 dgv741n71 10 66548916 66608587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895581,nsv895579 M 6533 0 3 "" IS31285,IS41043,IS41113 nsv895580 10 66550729 66591417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582984,nssv1551796 M 6533 0 2 "" IS36219,MS18978 nsv895582 10 66571576 66625067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579317 S 6533 0 1 "" IS35083 nsv895583 10 66574594 66933255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562188 S 6533 1 0 "" MS25429 nsv522052 10 66605539 66610798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694822 S 2026 0 1 "" nsv519223 10 66605539 66614006 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696712 S 2026 1 0 "" nsv895584 10 66627151 66752150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546186 S 6533 0 1 "" MS17114 nsv895585 10 66682562 67143178 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540554 S 6533 1 0 "" MS14913 nsv895586 10 66695250 66756123 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523053 S 6533 1 0 "" SP53596 esv29467 10 66700172 66702337 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20328 S 451 0 1 "" NA06985 esv2482434 10 66701652 66703151 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331859 S 1 0 1 "" NA18507 esv2312102 10 66702232 66702971 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878804 S 1 0 1 "" NA18507 esv3672 10 66702356 66702932 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26113 S 1 0 1 Single Asian sample YH "" YH esv9330 10 66702395 66702816 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31771 S 1 0 1 "" SJK nsv525559 10 66712209 66712719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701698 S 2026 0 1 "" dgv155n67 10 66717122 66830167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825427,nsv825426 M 31 0 2 "" NA18969,NA18973 nsv470953 10 66725911 66747353 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544945 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv895587 10 66745953 66788880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551532 S 6533 0 1 "" MS18922 dgv742n71 10 66757971 66862396 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895589,nsv895588 M 6533 0 2 "" MS19587,MS22677 nsv528124 10 66846854 66869775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704668 S 2026 0 1 "" nsv470954 10 66849132 66897691 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544946 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01084 esv271525 10 66866520 66866605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518697 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 esv22274 10 66899442 66903700 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15252 S 451 0 3 "" NA12489,NA18511,NA19257 esv33944 10 66931359 66988205 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97479,essv98184,essv94685,essv95742,essv93146,essv99075,essv93641,essv97203,essv99803,essv99662,essv94871,essv98048,essv100398,essv96252 M 51 9 5 "" 21616,21772,21791,21841,21863,21938,21972,22075,22086,22217,22231,22259,22300,22371 nsv517499 10 66933255 66988866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659570,nssv680390,nssv656455,nssv652193,nssv683757,nssv667854 M 2026 0 6 "" esv994723 10 66953353 66956246 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563735 S 3 1 0 "" HuRef nsv475161 10 66954034 66954471 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558097 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv508588 10 66963721 67006604 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620091,nssv618935 M 4 0 2 "" NA10860,NA15510 nsv6898 10 66971127 66999598 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10762,nssv1897 M 9 0 2 "" NA18555,NA18956 nsv437122 10 66974015 66983475 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467003 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv437120 10 66974015 66988454 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467001 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10857 nsv437121 10 66974015 67008212 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467002 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10855 nsv435917 10 66976381 66987230 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466600 S 2 0 1 "" NA15510 nsv8682 10 66976803 66985492 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19599,nssv18474,nssv19697,nssv17645,nssv19927,nssv17782,nssv19365,nssv19076,nssv17509,nssv22373,nssv19518,nssv20168,nssv19225 M 31 0 13 Samples from several populations that are part of the HapMap project. "" NA10847,NA11830,NA12155,NA12740,NA18537,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA18980,NA19007 dgv156n67 10 66976881 66985464 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825428,nsv825429,nsv825430 M 31 0 19 "" AK14,AK16,AK2,AK6,AK8,NA18526,NA18537,NA18542,NA18564,NA18566,NA18942,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv3195 10 66976889 66985367 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25636 S 1 0 1 Single Asian sample YH "" YH nsv819464 10 66976911 66985258 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419866 S 2 0 1 "" AK1 esv7757 10 66976944 66985319 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30198 S 1 0 1 "" SJK esv28843 10 66976955 66985336 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16383 S 451 0 11 "" NA06985,NA07037,NA07045,NA11894,NA12004,NA12044,NA12239,NA12414,NA12776,NA12828,NA15510 nsv514567 10 66977112 66985044 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628060 S 1414 0 1 "" esv2421385 10 66977929 66984452 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066510,essv5012700,essv5071956,essv5134899,essv5141638,essv5026594,essv5102846,essv5026553,essv5119674,essv5145616,essv5106642,essv5107059,essv5058813,essv5061007,essv5093091,essv5114947,essv5090671,essv5091744,essv5045675,essv5105859,essv5074449,essv5091780,essv5011243,essv5127168,essv5112907,essv5131496,essv5059736,essv5079362,essv5145099,essv5072300,essv5085196,essv5124000,essv5106498,essv5024844,essv5056540,essv5019718,essv5116874,essv5129333,essv5081869,essv5023782,essv5106301,essv5089445,essv5049640,essv5159028,essv5119353,essv5108523,essv5130138,essv5120296,essv5113277,essv5137379,essv5110227,essv5005061,essv5122524,essv5014063,essv5008514,essv5041129,essv5080678,essv5149795,essv5116012,essv5147139,essv5020423,essv5037063,essv5119866,essv5084222,essv5111827,essv5113080,essv5038632,essv5010876,essv5013802,essv5053427,essv5084860,essv5068111,essv5105606,essv5035590,essv5135317,essv5118062,essv5148962,essv5121841,essv5018386,essv5022718,essv5005853,essv5050380,essv5122338,essv5034525,essv5002720,essv5130120,essv5099584,essv5127086,essv5043910,essv5038189,essv5142324,essv5147182,essv5068659,essv5145561,essv5081552,essv5086356,essv5015616,essv5090025,essv5093394,essv5098334,essv5077247,essv5071867,essv5144314,essv5046860,essv5091730,essv5051806,essv5103261,essv5015249,essv5135732,essv5089639,essv5053269,essv5050792,essv5132111,essv5057853,essv5093237,essv5106800,essv5132586,essv5151282,essv5060416,essv5161024,essv5103716,essv5065012,essv5103975,essv5139028,essv5056405,essv5127233,essv5072689,essv5159053,essv5045513,essv5156758,essv5035367,essv5047305,essv5141682,essv5100078,essv5012005,essv5076253,essv5133229,essv5013701,essv5023657,essv5138888,essv5137153,essv5149152,essv5017783,essv5017068,essv5144689,essv5145732,essv5009844,essv5062118,essv5117822,essv5105090,essv5015601,essv5119859,essv5158234,essv5124918,essv5040483,essv5004043,essv5018993,essv5079614,essv5023450,essv5104198,essv5139935,essv5086113,essv5119246,essv5011806,essv5136481,essv5125553,essv5076213,essv5115616,essv5115204,essv5036773,essv5018383,essv5107443,essv5022463,essv5027968,essv5159466,essv5054473,essv5029459,essv5058444,essv5043175,essv5111120,essv5032692,essv5158344,essv5074589,essv5042505,essv5153322,essv5081151,essv5110779,essv5010093,essv5149453,essv5049182,essv5159264,essv5021901,essv5115858,essv5069555,essv5067304,essv5047830,essv5075087,essv5051530,essv5012607,essv5073941,essv5115172,essv5022605,essv5131690,essv5073849,essv5054636,essv5034631,essv5157892,essv5015704,essv5139867,essv5091765,essv5053234,essv5030241,essv5010118,essv5047563,essv5032196,essv5144275,essv5045492,essv5094543,essv5097633,essv5139206,essv5018128,essv5137442,essv5054574,essv5028291,essv5130134,essv5011522,essv5116383,essv5066382,essv5029281,essv5145496,essv5159270,essv5094034,essv5027814,essv5108278,essv5091477,essv5016911,essv5148987,essv5070275,essv5104117,essv5032202,essv5004953,essv5155552,essv5112436,essv5158006,essv5054341,essv5036149,essv5041971,essv5130506,essv5135304,essv5086605,essv5028053,essv5064291,essv5132744,essv5142489,essv5016878,essv5073650,essv5005259,essv5087326,essv5005244,essv5056945,essv5063767,essv5148380,essv5044337,essv5018303,essv5126245,essv5094267,essv5053895,essv5084840,essv5022040,essv5069599,essv5095040,essv5004872,essv5117267,essv5104905,essv5122349,essv5064592,essv5064906,essv5151899,essv5120975,essv5045667,essv5035169,essv5021181,essv5111426,essv5027754,essv5148846,essv5037428,essv5084577,essv5063934,essv5098806,essv5129064,essv5132372,essv5098379,essv5042267,essv5134891,essv5007328,essv5053147,essv5135264,essv5149132,essv5017677,essv5037295,essv5127799,essv5021291,essv5137927,essv5080396,essv5135634,essv5070492,essv5041380,essv5143848,essv5007731,essv5144821,essv5153885,essv5050047,essv5150448,essv5095955,essv5072401,essv5085485,essv5025443,essv5017750,essv5055302,essv5124310,essv5037449,essv5079417,essv5014847,essv5042609,essv5011697,essv5042663,essv5127198,essv5100801,essv5105776,essv5050170,essv5068689,essv5147596,essv5125247,essv5140122,essv5087647,essv5132730,essv5131317,essv5056037,essv5016153,essv5116955,essv5096047,essv5052775,essv5116463,essv5040485,essv5003786,essv5119350,essv5091802,essv5058213,essv5053686,essv5017270,essv5125635,essv5057098,essv5103881,essv5084013,essv5056730,essv5021983,essv5138138,essv5108204,essv5063050,essv5111276,essv5024351,essv5086239,essv5039105,essv5139207,essv5139554,essv5090382,essv5008367,essv5045271,essv5121970,essv5152517,essv5038806,essv5103748,essv5089620,essv5088856,essv5091022,essv5031257,essv5044975,essv5144472,essv5040927,essv5129739,essv5077826,essv5076065 M 1184 0 382 "" NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA06997,NA07000,NA07014,NA07031,NA07037,NA07045,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07435,NA10835,NA10836,NA10837,NA10838,NA10845,NA10847,NA10852,NA10853,NA10855,NA10861,NA10864,NA10865,NA11830,NA11831,NA11832,NA11891,NA11893,NA11894,NA11917,NA11930,NA11992,NA11994,NA12043,NA12044,NA12155,NA12239,NA12248,NA12249,NA12264,NA12273,NA12275,NA12286,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12375,NA12383,NA12489,NA12740,NA12750,NA12752,NA12753,NA12760,NA12762,NA12763,NA12776,NA12801,NA12812,NA12813,NA12817,NA12828,NA12842,NA12843,NA12864,NA12865,NA12873,NA12874,NA12875,NA12889,NA12892,NA17962,NA17966,NA17967,NA17968,NA17972,NA17974,NA17975,NA17981,NA17987,NA17990,NA17993,NA17995,NA17996,NA18102,NA18107,NA18108,NA18109,NA18114,NA18118,NA18120,NA18122,NA18124,NA18128,NA18131,NA18133,NA18135,NA18139,NA18140,NA18144,NA18146,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18157,NA18158,NA18159,NA18160,NA18162,NA18166,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18550,NA18555,NA18557,NA18558,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18579,NA18595,NA18596,NA18599,NA18602,NA18603,NA18605,NA18608,NA18610,NA18614,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18631,NA18633,NA18635,NA18636,NA18637,NA18640,NA18641,NA18643,NA18670,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18740,NA18745,NA18749,NA18757,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18968,NA18969,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18991,NA18993,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19054,NA19055,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19067,NA19070,NA19072,NA19075,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19086,NA19087,NA19088,NA19206,NA19208,NA19463,NA19625,NA19651,NA19657,NA19658,NA19659,NA19661,NA19664,NA19669,NA19670,NA19671,NA19681,NA19682,NA19684,NA19685,NA19686,NA19714,NA19716,NA19718,NA19719,NA19720,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19756,NA19757,NA19760,NA19762,NA19770,NA19771,NA19777,NA19778,NA19783,NA19784,NA19788,NA19789,NA19794,NA19795,NA19796,NA20317,NA20348,NA20356,NA20358,NA20502,NA20504,NA20505,NA20509,NA20510,NA20515,NA20516,NA20517,NA20518,NA20520,NA20521,NA20522,NA20524,NA20525,NA20539,NA20541,NA20543,NA20544,NA20586,NA20753,NA20755,NA20757,NA20758,NA20761,NA20765,NA20766,NA20771,NA20774,NA20785,NA20786,NA20790,NA20792,NA20797,NA20799,NA20802,NA20808,NA20809,NA20810,NA20816,NA20828,NA20845,NA20847,NA20853,NA20856,NA20858,NA20861,NA20866,NA20873,NA20874,NA20882,NA20883,NA20887,NA20888,NA20891,NA20894,NA20897,NA20898,NA20903,NA20909,NA20910,NA21094,NA21097,NA21098,NA21102,NA21104,NA21108,NA21109,NA21111,NA21117,NA21123,NA21137,NA21141,NA21295,NA21320,NA21440,NA21441,NA21521,NA21580,NA21596,NA21599 nsv442583 10 66977929 66984452 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1000009 10 66980344 66986854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565595 S 3 0 1 "" HuRef nsv438178 10 66980424 66983475 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470310,nssv470307,nssv470309 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19206,NA19208 dgv1n43 10 66980652 66983475 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819491,nsv820007 M 2 0 1 "" AK1 nsv433512 10 66980652 66983475 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463393 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv437123 10 66982114 66988454 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467004 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv520524 10 66997173 67000113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697468 S 2026 0 1 "" nsv437686 10 66997173 67033058 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467567 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19154 nsv895590 10 67000113 67220134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532267 S 6533 0 1 "" MS10737 esv23052 10 67000866 67007303 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12241 S 451 0 1 "" NA18523 nsv520171 10 67006691 67014715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697261 S 2026 0 1 "" esv23695 10 67012476 67014181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11998,esv16883 M 451 0 9 "" NA18502,NA18505,NA18508,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108 nsv514569 10 67013328 67014136 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628061 S 1414 0 0 "" esv2421464 10 67013460 67013961 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057917,essv5081033,essv5132534,essv5149936,essv5080677,essv5158121,essv5057783,essv5044554,essv5104719,essv5114123,essv5112523,essv5129705,essv5030465,essv5109878,essv5124655,essv5147907,essv5073040,essv5076407,essv5039543,essv5108749,essv5020983,essv5096867,essv5026283,essv5145967,essv5039608,essv5130538,essv5126683,essv5128900,essv5117888,essv5009850,essv5131817,essv5041440,essv5146316,essv5059610,essv5032503,essv5008890,essv5079629,essv5050546,essv5037557,essv5117198,essv5159024,essv5089744,essv5025424,essv5018965,essv5152724,essv5043969,essv5147750,essv5045097,essv5113103,essv5154347,essv5052215,essv5061725,essv5126838,essv5103527,essv5124436,essv5105233,essv5018587,essv5068123,essv5113388,essv5043659,essv5136682,essv5142175,essv5095197,essv5153878,essv5062853,essv5111646,essv5020898,essv5040376,essv5060768,essv5156660,essv5115621,essv5144572,essv5088013,essv5152031,essv5002495,essv5085576,essv5050849,essv5101738,essv5045715,essv5025577,essv5116521,essv5123043,essv5117605,essv5009476,essv5042226,essv5069534,essv5158519,essv5073264,essv5023521,essv5059831,essv5138568,essv5106426,essv5075160,essv5088365,essv5160993,essv5122059,essv5030475,essv5064410,essv5060551,essv5080378,essv5051035,essv5082934,essv5103551,essv5016038,essv5037690,essv5101772,essv5069842,essv5014484,essv5132436,essv5161221,essv5030469,essv5003558,essv5017401,essv5127625,essv5070701,essv5051136,essv5108188,essv5067840,essv5133172,essv5037388,essv5151713,essv5096134,essv5133632,essv5074130,essv5093832,essv5032279,essv5065748,essv5083807,essv5135070,essv5070061,essv5053738 M 1184 0 131 "" NA18504,NA18505,NA18508,NA18852,NA18854,NA18858,NA18861,NA18873,NA18875,NA18909,NA18911,NA18916,NA18933,NA18935,NA19041,NA19094,NA19095,NA19099,NA19102,NA19108,NA19109,NA19122,NA19123,NA19138,NA19146,NA19153,NA19171,NA19178,NA19180,NA19185,NA19197,NA19200,NA19202,NA19206,NA19221,NA19222,NA19235,NA19236,NA19247,NA19307,NA19310,NA19316,NA19317,NA19318,NA19319,NA19324,NA19332,NA19334,NA19346,NA19347,NA19359,NA19375,NA19381,NA19384,NA19394,NA19396,NA19404,NA19430,NA19434,NA19436,NA19439,NA19449,NA19457,NA19467,NA19470,NA19472,NA19701,NA19702,NA19703,NA19704,NA19705,NA19762,NA19763,NA19834,NA19835,NA19836,NA19904,NA20276,NA20277,NA20282,NA20297,NA20301,NA20302,NA20334,NA20335,NA20336,NA20345,NA20364,NA21297,NA21303,NA21316,NA21333,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21379,NA21388,NA21389,NA21417,NA21421,NA21423,NA21434,NA21439,NA21440,NA21442,NA21447,NA21454,NA21475,NA21477,NA21478,NA21487,NA21488,NA21490,NA21491,NA21510,NA21519,NA21520,NA21526,NA21527,NA21528,NA21576,NA21600,NA21616,NA21647,NA21719,NA21723,NA21741,NA21784 nsv442584 10 67013460 67013961 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv157n67 10 67040835 67167946 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825433,nsv825432 M 31 0 2 "" NA18969,NA18973 nsv831899 10 67051870 67209021 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448568 S 95 1 0 "" nsv895591 10 67083012 67143751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550840,nssv1568692 M 6533 0 2 "" IS31330,MS18620 esv269106 10 67100970 67101306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576088,essv2540699,essv2546202,essv2521314,essv2525872,essv2536801,essv2544156,essv2556779,essv2568082,essv2545455,essv2523226,essv2531702,essv2570356,essv2548335,essv2521701,essv2576673,essv2535098,essv2554020,essv2520692,essv2547178,essv2558433,essv2577696,essv2553910,essv2559707,essv2520152,essv2537418,essv2528394,essv2546858,essv2521024,essv2557038,essv2578628,essv2536901,essv2527147,essv2562820,essv2552898,essv2540624,essv2524616,essv2534692,essv2549231,essv2566171,essv2530937,essv2567738,essv2528984,essv2567570,essv2541694,essv2569974,essv2535547,essv2572514,essv2555315,essv2573818,essv2557667,essv2543055,essv2573319,essv2524083,essv2551249,essv2548677,essv2532981,essv2554437,essv2547717,essv2525147,essv2563276 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12716,NA12717,NA12750,NA12761,NA12763,NA12776,NA12815,NA12878,NA12891,NA12892,NA18498,NA18501,NA18510,NA18517,NA18522,NA18532,NA18542,NA18552,NA18555,NA18561,NA18564,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18943,NA18951,NA18953,NA18965,NA18969,NA19129,NA19257 esv273294 10 67100974 67101308 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581934,essv2582594,essv2583185 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv6909 10 67128399 67161738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8751 S 9 1 0 "" NA12156 nsv437687 10 67152738 67181098 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467568 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19161 nsv825434 10 67153511 67154064 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421937 S 31 0 1 "" NA18997 nsv467305 10 67155505 67188052 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542634 S 1557 0 1 "" 1780862194_A nsv825435 10 67163596 67164255 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421938 S 31 0 1 "" NA18997 nsv467307 10 67173087 67196918 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542635 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00155 dgv43n21 10 67230496 67276965 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526065,nsv526072 M 2026 0 2 "" nsv895592 10 67243868 67287066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515347 S 6533 0 1 "" SP56172 esv29936 10 67253139 67253702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19123 S 451 0 2 "" NA18508,NA19147 esv3516 10 67272947 67273198 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25957 S 1 0 1 Single Asian sample YH "" YH nsv526960 10 67287066 67300129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703332 S 2026 0 1 "" dgv743n71 10 67290284 68063672 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895593,nsv895594 M 6533 2 0 CTNNA3 MS21522,SP58206 esv1004637 10 67337970 67348801 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564519 S 3 0 1 "" HuRef nsv831900 10 67351594 67514802 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448569 S 95 1 0 CTNNA3 nsv467309 10 67450733 68059454 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542636 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00785 nsv467310 10 67450904 67456130 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542637 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01262 esv275005 10 67451992 67460389 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585359,essv2586187 M 1250 1 1 CTNNA3 nsv6920 10 67512851 67544637 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv945 S 9 1 0 CTNNA3 NA19240 esv2422303 10 67528141 67971209 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161418 S 181 0 1 CTNNA3 ND03710 nsv517151 10 67541847 67550131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693735,nssv660073,nssv653879,nssv693026,nssv687201,nssv655202 M 2026 0 6 CTNNA3 nsv528453 10 67541847 67565281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705052 S 2026 0 1 CTNNA3 esv2422469 10 67603464 67658895 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161314 S 181 0 1 CTNNA3 ND02296 esv2750968 10 67605477 67756141 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984418,essv6987592,essv6984419 M 771 1 0 CTNNA3 BEC_705 nsv525402 10 67630469 67634520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701525 S 2026 0 1 CTNNA3 nsv517910 10 67634379 67634520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695320 S 2026 0 1 CTNNA3 nsv467312 10 67638618 68175964 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542638 S 1557 1 0 CTNNA3 1780862207_A dgv744n71 10 67645001 67688367 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895596,nsv895595 M 6533 0 3 CTNNA3 IS31041,IS35083,MS13721 nsv895597 10 67657289 67676877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547956 S 6533 0 1 CTNNA3 MS17642 nsv895598 10 67660924 67976820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581949 S 6533 0 1 CTNNA3 IS35770 nsv525635 10 67665462 67671683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701789 S 2026 0 1 CTNNA3 nsv527479 10 67670017 67670706 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703924 S 2026 1 0 CTNNA3 nsv6931 10 67670164 67703145 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6401 S 9 1 0 CTNNA3 NA12156 esv2507435 10 67718696 67719667 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383831 S 1 1 0 CTNNA3 NA18507 esv989732 10 67719111 67719111 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583095 S 3 1 0 CTNNA3 HuRef esv1277642 10 67719112 67719112 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059809 S 2 1 0 CTNNA3 HuRef nsv467315 10 67735735 67759307 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542639 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00478 dgv745n71 10 67735757 67932577 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895599,nsv895601 M 6533 0 2 CTNNA3 IS30378,IS33211 nsv470955 10 67741619 67785209 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544948,nssv544951,nssv544952,nssv544947,nssv544950,nssv544949 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00478,HGDP00883,HGDP00892,HGDP00982,HGDP00983,HGDP01366 nsv895600 10 67741619 67794616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560464 S 6533 0 1 CTNNA3 MS24489 dgv108n27 10 67748487 67759307 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467319,nsv467318 M 1557 0 2 CTNNA3 1782681295_A,HGDP00900 nsv467320 10 67748487 67766225 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542643 S 1557 0 1 CTNNA3 1780862126_A dgv109n27 10 67748487 67785209 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467322,nsv467325,nsv467324,nsv467323,nsv467321 M 1557 0 5 CTNNA3 1780854023_A,1780854455_A,1780862125_A,HGDP00883,HGDP00892 nsv517024 10 67748487 67785209 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653634,nssv692465,nssv681796,nssv674382,nssv657898,nssv665602,nssv673417,nssv682836,nssv654372,nssv698495,nssv664589,nssv677336,nssv683504,nssv670338,nssv690280,nssv693772,nssv680283,nssv679840,nssv675623,nssv668771 M 2026 1 19 CTNNA3 esv270697 10 67754630 67754823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496626,essv2507963,essv2501649,essv2508336,essv2503803,essv2493375,essv2508825,essv2502755,essv2496869,essv2494222,essv2504079,essv2501160,essv2493751,essv2506210,essv2504539,essv2500966,essv2513336,essv2502377,essv2504862,essv2506925,essv2499112,essv2510852,essv2503908 M 157 23 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA07037,NA11894,NA12003,NA12144,NA12749,NA12761,NA12776,NA12878,NA12892,NA18498,NA18502,NA18505,NA18516,NA18517,NA18523,NA18563,NA18856,NA18907,NA18948,NA19099,NA19102,NA19114,NA19116 esv273078 10 67754639 67754893 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581966,essv2582939 M 7 2 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA12878,NA12892 esv8542 10 67755208 67755481 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30983 S 1 0 0 CTNNA3 SJK nsv895602 10 67755493 67823196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595862 S 6533 0 1 CTNNA3 IS40346 dgv746n71 10 67772339 67938287 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895604,nsv895605,nsv895603 M 6533 0 3 CTNNA3 IS38400,IS40817,SP55473 nsv831901 10 67806906 67940251 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448577,nssv1448579,nssv1448578,nssv1448581,nssv1448582,nssv1448580,nssv1448572,nssv1448570,nssv1448571,nssv1448575,nssv1448574,nssv1448576 M 95 12 0 CTNNA3 nsv895606 10 67820257 67849976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537675 S 6533 0 1 CTNNA3 MS13292 nsv831902 10 67828946 67859305 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448585,nssv1448586,nssv1448587,nssv1448583 M 95 0 4 CTNNA3 dgv747n71 10 67829658 67878895 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895607,nsv895608 M 6533 0 2 CTNNA3 SP55611,SP57173 dgv748n71 10 67829658 67920659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895610,nsv895609 M 6533 0 2 CTNNA3 IS35018,IS38148 nsv470956 10 67840557 67934190 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544953,nssv544955 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00590,HGDP01185 nsv895611 10 67840557 68097930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565560 S 6533 0 1 CTNNA3 IS30467 dgv749n71 10 67840557 68216254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895612,nsv895618 M 6533 0 2 CTNNA3 IS33839,IS41113 esv2750969 10 67841800 67948325 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982684,essv6989320,essv6989667 M 771 0 1 CTNNA3 BEC_58 nsv895613 10 67855224 67906707 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561898 S 6533 1 0 CTNNA3 MS25284 dgv750n71 10 67855224 67994406 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895614,nsv895615,nsv895616 M 6533 0 3 CTNNA3 MS24939,MS25940,SP50828 nsv510225 10 67876976 67882976 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621441 S 4 0 1 CTNNA3 NA15510 nsv519703 10 67878895 67895016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697001 S 2026 0 1 CTNNA3 nsv527987 10 67878895 67934190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704506 S 2026 0 1 CTNNA3 nsv523116 10 67878895 67976820 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698815 S 2026 1 0 CTNNA3 esv2750970 10 67879500 67935343 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989346,essv6989738,essv6983133 M 771 0 1 CTNNA3 BEC_546 nsv895617 10 67880428 67900353 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508822 S 6533 0 1 CTNNA3 SP54606 esv269320 10 67887387 67887721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521157,essv2523406,essv2537211,essv2528473,essv2552717,essv2551764,essv2558900,essv2538882,essv2549246,essv2531197,essv2541796,essv2566726,essv2555398,essv2573963,essv2576977,essv2529641,essv2575252,essv2538809,essv2572873,essv2568719,essv2548143,essv2545986,essv2574092 M 157 23 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA11894,NA12004,NA12878,NA12891,NA18502,NA18504,NA18516,NA18519,NA18564,NA18573,NA18592,NA18853,NA18943,NA18951,NA18970,NA19093,NA19102,NA19108,NA19143,NA19147,NA19210,NA19239,NA19240 esv272437 10 67887389 67887721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582164,essv2582623,essv2584625,essv2583656 M 7 4 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA12878,NA12891,NA19239,NA19240 nsv467329 10 67891243 67934190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542650 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00590 nsv895619 10 67900353 67938287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514159 S 6533 0 1 CTNNA3 SP55966 nsv895620 10 67906707 67960600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590442 S 6533 0 1 CTNNA3 IS38513 dgv751n71 10 67912678 68113302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895621,nsv895623 M 6533 0 3 CTNNA3 IS37996,MS18422,MS18819 esv2750971 10 67913368 67969901 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982587,essv6989314,essv6989652 M 771 0 1 CTNNA3 BEC_569 esv270785 10 67913959 67914139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508541,essv2511861,essv2510594,essv2493269,essv2494678,essv2494983,essv2508732,essv2500093,essv2507692,essv2501579,essv2512894,essv2505162,essv2502422,essv2493138,essv2506970,essv2506469 M 157 16 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA12717,NA18499,NA18501,NA18504,NA18519,NA18520,NA18532,NA18573,NA18576,NA18608,NA18609,NA18853,NA18948,NA18951,NA19102,NA19108 nsv521580 10 67920659 67924563 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698195 S 2026 1 0 CTNNA3 nsv895622 10 67924563 68013385 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555717 S 6533 1 0 CTNNA3 MS21522 nsv467330 10 67924563 68143405 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542651 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01339 nsv895624 10 67930536 67976820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589229,nssv1599082 M 6533 0 2 CTNNA3 IS38329,IS41391 dgv752n71 10 67930536 68013385 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895625,nsv895627 M 6533 0 2 CTNNA3 IS34573,MS15922 dgv753n71 10 67932577 68069165 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895633,nsv895626,nsv895629,nsv895628,nsv895630 M 6533 0 5 CTNNA3 IS34346,IS37435,MS15030,SP52058,SP53399 nsv467331 10 67933993 67995124 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542652 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00534 nsv517405 10 67938287 68088852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651927,nssv663206,nssv698746,nssv675493,nssv655877,nssv685806,nssv668003,nssv688602,nssv660266,nssv666276,nssv681114,nssv702407,nssv665891,nssv676482,nssv690623,nssv701032,nssv658760,nssv686659,nssv666848,nssv688500,nssv671683,nssv680501,nssv675142,nssv654661,nssv689826,nssv698128,nssv685686,nssv654352,nssv658088,nssv686198,nssv678840,nssv696910,nssv682447,nssv686699,nssv700913 M 2026 0 35 CTNNA3 dgv110n27 10 67944124 68050599 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467332,nsv467333 M 1557 0 2 CTNNA3 1780854327_A,HGDP00702 nsv514570 10 67944728 67948296 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628062 S 1414 0 1 CTNNA3 nsv442190 10 67944731 67948321 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CTNNA3 nsv470957 10 67947835 68040186 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544956 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00702 nsv467334 10 67953241 68023745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542655 S 1557 0 1 CTNNA3 1780862309_A dgv754n71 10 67954023 68091312 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895631,nsv895634 M 6533 0 2 CTNNA3 IS30177,MS24553 dgv755n71 10 67960600 68167094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895639,nsv895632,nsv895640,nsv895643 M 6533 0 5 CTNNA3 IS32686,IS36517,MS17825,MS24833,SP81047 nsv895635 10 67968052 68005535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545958,nssv1539119 M 6533 0 2 CTNNA3 MS14209,MS17067 nsv895636 10 67968052 68077867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564568 S 6533 1 0 CTNNA3 IS30241 dgv756n71 10 67976820 68040186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895638,nsv895637 M 6533 0 2 CTNNA3 MS15102,MS22122 dgv757n71 10 67979174 68077867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895645,nsv895641 M 6533 0 2 CTNNA3 MS24272,SP50908 nsv895642 10 67987089 68013385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535695 S 6533 0 1 CTNNA3 MS12398 essv1339 10 67987416 68078527 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA18973 dgv295e1 10 67987416 68162396 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv676,essv840,esv793 M 271 0 0 CTNNA3 NA18973 nsv825436 10 67989824 68078508 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439065 S 31 0 1 CTNNA3 NA18973 esv271628 10 67990051 67990367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496722,essv2510641,essv2493211,essv2496375,essv2494051,essv2513439,essv2501425,essv2509621 M 157 8 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA18498,NA18501,NA18504,NA18510,NA18871,NA18907,NA19093,NA19129 nsv467336 10 67991607 68034046 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542656 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00105 nsv895644 10 67999188 68031414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518063,nssv1512437,nssv1511976,nssv1502343 M 6533 0 4 CTNNA3 SP51031,SP55219,SP55511,SP57453 nsv467337 10 67999188 68127819 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542657 S 1557 0 1 CTNNA3 1780862595_A dgv758n71 10 67999188 68132757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895651,nsv895646,nsv895647 M 6533 0 4 CTNNA3 IS38365,MS15216,MS17047,MS17221 nsv467340 10 68005535 68013385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542659 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00821 dgv759n71 10 68005535 68064862 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895649,nsv895648 M 6533 0 2 CTNNA3 MS14210,SP57137 nsv467341 10 68005535 68267136 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542660 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01380 esv271062 10 68006742 68007085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514531,essv2516749,essv2519277,essv2517076,essv2514143,essv2518806,essv2514823,essv2515324,essv2515081,essv2517980,essv2514273,essv2515812,essv2517260 M 157 13 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA11840,NA11881,NA11894,NA11931,NA12043,NA12045,NA12234,NA12249,NA12812,NA12872,NA12874,NA18969,NA18970 esv1160727 10 68006770 68006770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744255 S 2 1 0 CTNNA3 HuRef nsv6942 10 68010022 68045253 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv946 S 9 1 0 CTNNA3 NA19240 nsv895650 10 68019381 68050599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560407 S 6533 0 1 CTNNA3 MS24471 nsv831903 10 68022959 68184384 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448588 S 95 0 1 CTNNA3 nsv895652 10 68023745 68064862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600014 S 6533 0 1 CTNNA3 IS41831 nsv467342 10 68023745 68069165 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542661 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01065 nsv895653 10 68023745 68190451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547193 S 6533 0 1 CTNNA3 MS17231 dgv760n71 10 68034046 68095473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895656,nsv895660,nsv895654 M 6533 0 4 CTNNA3 IS31145,SP53447,SP58215,SP81068 dgv761n71 10 68040186 68147025 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895658,nsv895655,nsv895657 M 6533 0 3 CTNNA3 IS36698,IS40003,MS20042 nsv895659 10 68046869 68069165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519507 S 6533 0 1 CTNNA3 SP81067 nsv467344 10 68050599 68100834 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542662 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01327 dgv762n71 10 68050599 68175936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895661,nsv895664 M 6533 0 2 CTNNA3 SP50774,SP54816 nsv895662 10 68054110 68091312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506392 S 6533 0 1 CTNNA3 SP54294 dgv763n71 10 68054110 68132757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895663,nsv895665 M 6533 0 2 CTNNA3 IS32893,IS34649 nsv524840 10 68064862 68112054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700842 S 2026 0 1 CTNNA3 nsv895666 10 68077867 68105668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553184 S 6533 0 1 CTNNA3 MS19798 nsv470958 10 68077867 68174741 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544957 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00938 nsv895667 10 68077867 68352822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500466 S 6533 0 1 CTNNA3 SP50519 esv26235 10 68086951 68087674 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17787 S 451 1 0 CTNNA3 NA12239 nsv467345 10 68088852 68113302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542663 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01295 nsv522267 10 68095473 68100834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695047 S 2026 0 1 CTNNA3 nsv467346 10 68098864 68156906 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542664 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00938 dgv764n71 10 68100834 68174741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895668,nsv895670 M 6533 0 15 CTNNA3 MS12638,MS12688,MS15596,MS16038,MS16934,MS17385,MS17394,MS17492,MS17806,MS17986,MS18175,MS23110,MS23713,MS25669,MS25976 nsv895669 10 68105668 68233151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539506 S 6533 0 1 CTNNA3 MS14353 nsv523509 10 68127614 68216254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699280 S 2026 0 1 CTNNA3 nsv467347 10 68127614 68263922 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542665 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01153 nsv895671 10 68127819 68156380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533109 S 6533 0 1 CTNNA3 MS11019 nsv895672 10 68135499 68545640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564569 S 6533 1 0 CTNNA3,LRRTM3 IS30241 nsv8683 10 68157292 68181431 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19006 S 31 1 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA18552 nsv527409 10 68160982 68305039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703847 S 2026 0 1 CTNNA3 dgv44n21 10 68180377 68268934 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518502,nsv520334 M 2026 0 2 CTNNA3 nsv895673 10 68233151 68323743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558532 S 6533 1 0 CTNNA3 MS23332 nsv467348 10 68251353 68270504 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542666 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP00080 esv994696 10 68265210 68268243 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563901 S 3 1 0 CTNNA3 HuRef nsv895674 10 68270504 68323743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540854 S 6533 0 1 CTNNA3 MS15060 nsv510226 10 68279326 68285326 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622262 S 4 0 1 CTNNA3 NA10860 nsv467349 10 68290263 68297491 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542667 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01260 nsv470959 10 68290263 68300570 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544958 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01260 nsv524188 10 68300086 68300570 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700071 S 2026 0 1 CTNNA3 nsv895675 10 68300570 68354255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559177 S 6533 0 1 CTNNA3 MS23768 nsv467351 10 68352822 68391583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542669 S 1557 0 1 CTNNA3,LRRTM3 1780862003_A dgv33e55 10 68359573 68608300 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750973,esv2750972,esv2750974 M 771 3 0 CTNNA3,LRRTM3 BEC_696,BEC_820,SPC_15 nsv520745 10 68411841 68592248 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674923,nssv677442 M 2026 2 0 CTNNA3,LRRTM3 esv267777 10 68413207 68413331 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504144,essv2496343,essv2502170 M 157 3 0 Samples from several populations that are part of the HapMap project. CTNNA3,LRRTM3 NA18505,NA18510,NA19257 dgv765n71 10 68427969 68446763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895677,nsv895676 M 6533 0 2 CTNNA3,LRRTM3 SP51132,SP52117 nsv831905 10 68526271 68669419 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448589 S 95 1 0 CTNNA3,LRRTM3 nsv895678 10 68558497 68681320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533642 S 6533 0 1 CTNNA3 MS11249 nsv6953 10 68576915 68609478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1898 S 9 1 0 CTNNA3 NA18555 nsv895679 10 68605706 68843986 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554950 S 6533 1 0 CTNNA3 MS21117 nsv895680 10 68606231 68672493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515181 S 6533 0 1 CTNNA3 SP56132 nsv467353 10 68616511 68776378 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542670 S 1557 1 0 CTNNA3 1780854477_A esv270370 10 68647546 68647705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494247,essv2503040,essv2507656,essv2493955,essv2501995 M 157 5 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA18502,NA18507,NA18576,NA18871,NA19257 esv23251 10 68709321 68710242 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19316 S 451 13 0 CTNNA3 NA11995,NA12004,NA12156,NA12239,NA12749,NA18502,NA18505,NA18523,NA18907,NA18916,NA19099,NA19147,NA19190 nsv821050 10 68709321 68710242 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420883 S 1 0 1 CTNNA3 NA10851 nsv24302 10 68728705 68736553 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42880 M 24 CTNNA3 esv2642806 10 68730946 68732341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199399 S 1 0 1 CTNNA3 NA18507 esv267736 10 68731809 68732135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518229,essv2513658 M 157 2 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA07347,NA19240 esv273108 10 68731809 68732135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581291 S 7 1 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA19240 esv268726 10 68808263 68808529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544699,essv2563084,essv2541334,essv2524630,essv2564939,essv2561245,essv2549476,essv2553134,essv2535592,essv2572397,essv2573211,essv2529987,essv2531670,essv2573543,essv2543067,essv2573336 M 157 16 0 Samples from several populations that are part of the HapMap project. CTNNA3 NA18526,NA18532,NA18545,NA18555,NA18558,NA18562,NA18564,NA18605,NA18608,NA18609,NA18942,NA18949,NA18961,NA18964,NA18965,NA18969 nsv831906 10 68867744 68901104 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448590 S 95 0 1 CTNNA3 nsv895681 10 68977724 69029027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523291,nssv1519672,nssv1522614,nssv1524393,nssv1549415,nssv1519631,nssv1521876,nssv1525122,nssv1524734 M 6533 0 9 CTNNA3 MS18217,SP50094,SP50126,SP52625,SP53288,SP53914,SP55007,SP55189,SP55513 nsv6966 10 68984548 69018756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1899 S 9 0 1 CTNNA3 NA18555 nsv895682 10 68987569 69016748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502028,nssv1514951,nssv1501117,nssv1516559,nssv1501949 M 6533 0 5 CTNNA3 SP50691,SP51022,SP51051,SP56104,SP56861 nsv498730 10 68995900 69016608 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585447 S 9 0 1 CTNNA3 nsv433261 10 68996992 69017123 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463142 S 9 0 1 Samples from several populations that are part of the HapMap project. CTNNA3 NA18555 nsv467354 10 69018764 69101004 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542671 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01033 esv274901 10 69022472 69027297 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585137,essv2585630 M 1250 1 1 CTNNA3 nsv470961 10 69029027 69101004 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544959 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNNA3 HGDP01033 nsv515950 10 69029027 69101004 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704740,nssv659703,nssv665427 M 2026 2 1 CTNNA3 esv1517989 10 69156486 69156486 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979561 S 2 1 0 "" HuRef esv2508498 10 69157206 69159833 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164898 S 1 0 1 "" NA18507 esv1000438 10 69255421 69255421 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580055 S 3 1 0 DNAJC12 HuRef esv1143947 10 69255422 69255422 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124248 S 2 1 0 DNAJC12 HuRef nsv825437 10 69319943 69321130 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427678 S 31 1 0 SIRT1 AK8 nsv6977 10 69375481 69409209 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3880 S 9 1 0 HERC4 NA12878 dgv766n71 10 69443847 69603080 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895684,nsv895685,nsv895683 M 6533 4 0 HERC4,MYPN MS14801,MS15375,MS17120,MS25121 dgv767n71 10 69486715 69644845 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895686,nsv895689 M 6533 3 0 HERC4,MYPN MS12883,MS21924,MS25696 nsv895687 10 69490915 69584587 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546039 S 6533 1 0 HERC4,MYPN MS17113 nsv895688 10 69532245 69603080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545677 S 6533 1 0 MYPN MS16898 nsv521328 10 69584587 69592741 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697934 S 2026 1 0 MYPN esv1083515 10 69612054 69612110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078220 S 2 0 1 MYPN HuRef esv2255501 10 69623386 69623802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897750 S 1 0 1 MYPN NA18507 nsv526735 10 69653133 69661859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703078 S 2026 0 1 ATOH7 esv2612543 10 69664711 69665636 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219970 S 1 1 0 "" NA18507 esv268585 10 69664863 69665220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514189,essv2518812,essv2515482,essv2518447,essv2514900,essv2516318,essv2518125,essv2514326,essv2517886,essv2517328,essv2518231 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12045,NA12249,NA12287,NA12812,NA12814,NA12872,NA12874,NA12878,NA18970,NA19240 esv273123 10 69664863 69665220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581626,essv2581226 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1528710 10 69664912 69664912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811001 S 2 1 0 "" HuRef esv275377 10 69672114 69674948 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585425,essv2585228 M 1250 1 1 "" nsv437125 10 69733542 69745575 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467006 S 60 0 1 Samples from several populations that are part of the HapMap project. PBLD NA12753 nsv517615 10 69734515 69739239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679968,nssv680031,nssv676170,nssv674699,nssv675016,nssv687543,nssv681663,nssv690207,nssv670157,nssv661631,nssv653423,nssv688681,nssv654310,nssv664721,nssv670685,nssv686063,nssv655660,nssv658426,nssv684950,nssv663964,nssv683821,nssv673468,nssv677081,nssv693369,nssv652520,nssv658203,nssv682104,nssv682670,nssv661869,nssv686482,nssv660301,nssv666312,nssv657376 M 2026 0 33 PBLD dgv158n67 10 69738459 69740187 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825438,nsv825439 M 31 0 9 PBLD AK12,AK2,AK20,AK4,NA18542,NA18564,NA18582,NA18592,NA18968 nsv895690 10 69784982 69824360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499409 S 6533 0 1 RUFY2 SP50649 nsv895691 10 69784982 69849752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517855 S 6533 0 1 DNA2,RUFY2 SP57379 nsv895692 10 69797702 69916880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567475 S 6533 0 1 DNA2,RUFY2,SLC25A16 IS31090 nsv6988 10 69801287 69826957 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5294,nssv6402 M 9 2 0 RUFY2 NA12156,NA19129 esv998654 10 69942106 69942427 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582723 S 3 0 1 SLC25A16 HuRef nsv895693 10 70004322 70108629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585359 S 6533 0 1 TET1 IS37428 esv274213 10 70031577 70031908 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582154,essv2583252 M 7 2 0 Samples from several populations that are part of the HapMap project. TET1 NA12878,NA12892 nsv524412 10 70075243 70075545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700334 S 2026 0 1 TET1 nsv510227 10 70122495 70128495 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622264,nssv624166 M 4 0 2 TET1 NA10860,NA18994 dgv296e1 10 70127725 70301318 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10800,esv433,essv9381,esv432,essv16245 M 271 0 0 CCAR1,SNORD98,STOX1 NA18523,NA18853,NA19161 nsv6999 10 70149329 70162545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8770 S 9 1 0 CCAR1 NA12156 nsv8684 10 70174479 70179430 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21854 S 31 1 0 Samples from several populations that are part of the HapMap project. CCAR1 NA18517 esv21994 10 70230013 70232521 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13366 S 451 0 2 "" NA18523,NA18909 nsv825440 10 70246474 70253401 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427679 S 31 0 1 "" AK8 esv2590445 10 70256692 70258341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231560 S 1 0 1 STOX1 NA18507 esv22950 10 70256991 70258127 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19405 S 451 0 2 STOX1 NA07037,NA07045 esv1165433 10 70257730 70258066 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333859 S 2 0 1 STOX1 HuRef nsv437688 10 70280215 70296290 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467569 S 60 0 1 Samples from several populations that are part of the HapMap project. STOX1 NA18854 nsv8685 10 70282579 70298562 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19010 S 31 0 1 Samples from several populations that are part of the HapMap project. STOX1 NA18853 esv25403 10 70282591 70292304 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20707 S 451 0 1 STOX1 NA18523 nsv442191 10 70282650 70292123 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 STOX1 nsv516725 10 70286205 70288865 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683773,nssv670464,nssv680464,nssv685721 M 2026 0 4 STOX1 nsv818773 10 70286205 70288865 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417903,nssv1416774,nssv1417902,nssv1416773 M 112 0 4 STOX1 NA18853,NA18854,NA19159,NA19161 nsv831907 10 70301736 70459411 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448591 S 95 1 0 DDX21,DDX50,KIAA1279,STOX1 esv1719721 10 70304344 70304456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225064 S 2 0 1 STOX1 HuRef esv2579637 10 70355300 70356037 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305033 S 1 1 0 DDX50 NA18507 nsv519999 10 70361714 70445087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677258,nssv660009,nssv685613 M 2026 0 3 DDX21,DDX50,KIAA1279 esv1000949 10 70423099 70424047 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564098 S 3 1 0 KIAA1279 HuRef nsv821377 10 70455642 70457390 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420884 S 1 0 1 "" NA10851 nsv825441 10 70455642 70457390 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436862 S 31 1 0 "" NA18542 nsv825443 10 70456245 70457133 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430770,nssv1428185,nssv1422789,nssv1431500,nssv1435281,nssv1429255,nssv1434584,nssv1426892,nssv1433844,nssv1426641,nssv1427681,nssv1439848,nssv1432258,nssv1436037,nssv1423610 M 31 6 9 "" AK12,AK16,AK18,AK20,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18570,NA18942,NA18968,NA18999 esv5545 10 70456298 70457317 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27986 S 1 0 1 "" SJK nsv7010 10 70532008 70576703 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8778 S 9 0 1 SRGN,VPS26A NA12156 nsv895694 10 70541604 70645245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591316 S 6533 1 0 SUPV3L1,VPS26A IS38671 nsv508589 10 70595773 70706039 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622691 S 4 0 1 HK1,HKDC1,SUPV3L1,VPS26A NA18994 nsv819970 10 70596518 70598295 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419322 S 2 0 1 VPS26A AK1 esv275556 10 70641467 70645922 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585922 S 1250 0 1 "" esv2462035 10 70667260 70668785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166655 S 1 0 1 HKDC1 NA18507 esv2407805 10 70667965 70668651 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499016 S 1 0 1 HKDC1 NA18507 esv3686 10 70668026 70668563 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26127 S 1 0 1 Single Asian sample YH HKDC1 YH esv6582 10 70668122 70668448 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29023 S 1 0 1 HKDC1 SJK nsv895695 10 70683222 70762809 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591317 S 6533 1 0 HK1,HKDC1 IS38671 dgv297e1 10 70708723 70722894 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv988,essv8040,esv1113 M 271 0 0 HK1 NA19103 nsv524428 10 70722514 70726156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700355 S 2026 0 1 HK1 nsv895696 10 70798881 70901074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591318 S 6533 1 0 HK1,TACR2,TSPAN15 IS38671 nsv825444 10 70849027 70851031 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436864 S 31 0 1 "" NA18542 nsv523004 10 70888100 70907542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698676 S 2026 0 1 TSPAN15 nsv524063 10 70901074 70907542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699930 S 2026 0 1 TSPAN15 nsv7021 10 70908501 70990185 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3881,nssv8792,nssv3882,nssv10763,nssv8786,nssv11240 M 9 0 4 TSPAN15 NA12156,NA12878,NA15510,NA18956 nsv524514 10 70919814 70925917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700458 S 2026 0 1 TSPAN15 nsv508590 10 70924168 70962310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622693 S 4 0 1 TSPAN15 NA18994 nsv467356 10 70925753 70961746 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542672 S 1557 0 1 TSPAN15 1798860587_A esv32737 10 70933992 72216609 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97538,essv98301,essv94691,essv97060,essv95630,essv99073,essv93626,essv98557,essv99906,essv95988,essv96066,essv98040,essv99350,essv99282,essv100351,essv99363,essv94223 M 51 15 2 ADAMTS14,AIFM2,C10orf27,C10orf35,COL13A1,EIF4EBP2,H2AFY2,KIAA1274,LRRC20,NEUROG3,NODAL,NPFFR1,PPA1,PRF1,SAR1A,TSPAN15,TYSND1 21616,21772,21791,21817,21841,21938,21972,22085,22086,22127,22259,22275,22300,22335,22394 nsv8686 10 70941950 70945878 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24327 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv520692 10 70942024 70942140 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697560 S 2026 1 0 "" nsv895697 10 70944743 70985384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559811 S 6533 1 0 "" MS24158 nsv510228 10 70945814 70951814 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621444,nssv618330 M 4 0 2 "" CHM,NA15510 nsv53 10 70946349 70962911 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv53 S 1 0 1 "" NA15510 esv988836 10 70948684 70961527 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565151 S 3 0 1 "" HuRef nsv825445 10 70949195 70961191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434586 S 31 0 1 "" NA18570 nsv8687 10 70949290 70961425 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19395,nssv17569,nssv17539,nssv19255,nssv19036,nssv18504,nssv17675 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA10847,NA18537,NA18552,NA18572,NA18975,NA18980 nsv437126 10 70949373 70965123 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467007 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 esv28443 10 70950792 70961060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12378 S 451 0 4 "" NA12239,NA12878,NA15510,NA19190 dgv8n47 10 70951009 70961126 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498731,nsv498732 M 9 0 2 "" esv6482 10 70951020 70961116 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28923 S 1 0 1 "" SJK dgv1e195 10 70952478 70960784 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array esv2421479,esv2421327 M 1184 0 332 "" NA06995,NA07435,NA10845,NA10847,NA10865,NA11832,NA11881,NA11891,NA11930,NA12003,NA12056,NA12145,NA12239,NA12248,NA12336,NA12341,NA12399,NA12751,NA12753,NA12761,NA12763,NA12878,NA12892,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17979,NA17981,NA17982,NA17986,NA17987,NA17988,NA17993,NA17995,NA18101,NA18102,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18122,NA18125,NA18127,NA18129,NA18131,NA18132,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18156,NA18158,NA18159,NA18162,NA18166,NA18520,NA18524,NA18526,NA18529,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18558,NA18562,NA18566,NA18570,NA18572,NA18577,NA18579,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18612,NA18613,NA18614,NA18615,NA18617,NA18620,NA18621,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18635,NA18638,NA18640,NA18641,NA18642,NA18643,NA18645,NA18670,NA18682,NA18694,NA18702,NA18704,NA18747,NA18748,NA18757,NA18934,NA18935,NA18939,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19009,NA19010,NA19038,NA19044,NA19056,NA19057,NA19059,NA19060,NA19062,NA19063,NA19065,NA19067,NA19068,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19101,NA19128,NA19159,NA19179,NA19181,NA19190,NA19203,NA19324,NA19327,NA19372,NA19376,NA19391,NA19397,NA19429,NA19430,NA19435,NA19451,NA19452,NA19652,NA19653,NA19657,NA19658,NA19659,NA19660,NA19661,NA19663,NA19665,NA19669,NA19681,NA19682,NA19683,NA19685,NA19686,NA19708,NA19716,NA19718,NA19720,NA19723,NA19726,NA19746,NA19747,NA19748,NA19751,NA19756,NA19757,NA19759,NA19760,NA19761,NA19771,NA19772,NA19776,NA19782,NA19783,NA19784,NA19819,NA19915,NA19917,NA19918,NA20281,NA20287,NA20292,NA20356,NA20357,NA20358,NA20504,NA20505,NA20525,NA20530,NA20539,NA20544,NA20582,NA20757,NA20785,NA20786,NA20801,NA20802,NA20806,NA20815,NA20816,NA20826,NA20850,NA20854,NA20858,NA20883,NA20885,NA20895,NA21094,NA21097,NA21108,NA21111,NA21125,NA21295,NA21302,NA21303,NA21308,NA21309,NA21353,NA21355,NA21357,NA21368,NA21371,NA21378,NA21381,NA21383,NA21448,NA21453,NA21454,NA21478,NA21479,NA21480,NA21493,NA21513,NA21514,NA21523,NA21525,NA21527,NA21529,NA21573,NA21574,NA21575,NA21578,NA21583,NA21631,NA21683,NA21685,NA21719,NA21733,NA21738 dgv159n67 10 70952773 70961191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825446,nsv825450,nsv825449,nsv825447,nsv825448 M 31 0 20 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18947,NA18951,NA18997,NA18999 nsv514571 10 70952976 70961024 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628063 S 1414 0 1 "" dgv111n27 10 70953496 70966974 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467357,nsv467362,nsv467359,nsv467363,nsv467360,nsv467358 M 1557 0 6 "" HGDP00717,HGDP00750,HGDP00956,HGDP01312,HGDP01331,HGDP01333 nsv515867 10 70953496 70966974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693756,nssv665089,nssv672914,nssv684964,nssv681296,nssv690950 M 2026 0 6 "" esv272442 10 70978720 70978986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581725,essv2582850 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv270912 10 70978722 70979058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521298,essv2525827,essv2542476,essv2523037,essv2570999,essv2577226,essv2525376,essv2552030,essv2547538,essv2558243,essv2553750,essv2564159,essv2555167,essv2537439,essv2546921,essv2523700,essv2542856,essv2534521,essv2549546,essv2532515,essv2541669,essv2572355,essv2559044,essv2578396,essv2573784,essv2526795,essv2548651,essv2532950,essv2563420 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA10847,NA11894,NA11918,NA11919,NA11931,NA11993,NA12043,NA12156,NA12489,NA12717,NA12750,NA12763,NA12828,NA12872,NA12878,NA12892,NA18537,NA18550,NA18561,NA18564,NA18576,NA18592,NA18609,NA18638,NA18940,NA18951,NA19005 esv1334149 10 70978754 70978754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835983 S 2 1 0 "" HuRef esv2292451 10 70984792 70985252 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799566 S 1 0 1 "" NA18507 esv4113 10 70984852 70985263 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26554 S 1 0 1 Single Asian sample YH "" YH dgv15e180 10 70984960 70985073 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008820,esv1003002 M 3 0 1 "" HuRef dgv16n6 10 70984964 70985082 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv25106,nsv24165 M 24 "" esv1417072 10 70984971 70985079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781885 S 2 0 1 "" HuRef nsv895698 10 71004628 71053383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536603 S 6533 0 1 "" MS12860 nsv7032 10 71033217 71067262 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8801 S 9 1 0 C10orf35 NA12156 nsv509356 10 71035924 71098081 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621040 S 4 1 0 C10orf35 NA15510 esv8528 10 71047710 71047791 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30969 S 1 1 0 "" SJK dgv45n21 10 71079849 71085247 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521284,nsv518224 M 2026 0 2 "" nsv428233 10 71111752 71434760 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451922 S 62 1 0 COL13A1 HGDP00476 nsv467364 10 71121878 71133188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542680 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01247 nsv467365 10 71139975 71158046 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542681 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00330 nsv524702 10 71176792 71178146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700685 S 2026 0 1 "" nsv517781 10 71206453 71209587 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705697,nssv693624,nssv678585,nssv653236 M 2026 4 0 "" nsv516370 10 71231005 71250126 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693457,nssv667820 M 2026 2 0 COL13A1 nsv7043 10 71258418 71281145 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8808 S 9 1 0 COL13A1 NA12156 nsv519900 10 71258510 71260984 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674018,nssv678290,nssv659412,nssv682316 M 2026 4 0 COL13A1 nsv509358 10 71273226 71398524 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621044 S 4 1 0 COL13A1 NA15510 nsv895699 10 71276422 71322507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538654 S 6533 0 1 COL13A1 MS13770 esv2604076 10 71279994 71280907 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365663 S 1 1 0 COL13A1 NA18507 esv267404 10 71280149 71280475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558194,essv2575915,essv2571742,essv2546513,essv2521185,essv2525940,essv2536658,essv2522664,essv2543937,essv2570815,essv2556812,essv2568188,essv2545473,essv2523311,essv2532016,essv2577512,essv2570708,essv2548433,essv2521739,essv2576818,essv2535065,essv2554260,essv2544324,essv2552103,essv2520396,essv2547126,essv2529206,essv2558620,essv2577836,essv2553545,essv2559571,essv2565522,essv2554930,essv2561821,essv2537600,essv2528427,essv2547107,essv2520753,essv2557406,essv2557021,essv2532336,essv2562729,essv2569515,essv2578716,essv2537041,essv2539178,essv2527105,essv2561433,essv2544851,essv2523505,essv2552997,essv2541165,essv2538312,essv2542807,essv2540259,essv2524498,essv2564795,essv2534824,essv2561154,essv2539551,essv2549356,essv2519697,essv2559879,essv2522019,essv2565998,essv2531070,essv2532599,essv2567890,essv2528942,essv2567558,essv2541715,essv2570098,essv2563622,essv2553210,essv2535799,essv2572242,essv2558973,essv2566887,essv2551069,essv2569094,essv2543512,essv2556427,essv2528040,essv2562534,essv2539289,essv2578403,essv2573075,essv2533750,essv2555593,essv2567144,essv2566447,essv2530066,essv2574018,essv2527654,essv2557746,essv2555841,essv2534490,essv2522528,essv2531359,essv2573396,essv2543379,essv2573280,essv2577022,essv2571934,essv2526760,essv2529840,essv2575405,essv2538828,essv2526625,essv2560739,essv2574845,essv2572770,essv2568810,essv2545221,essv2549640,essv2571360,essv2545777,essv2574259,essv2536286,essv2538172,essv2548654,essv2533358,essv2554448,essv2547719,essv2525163,essv2563484 M 157 126 0 Samples from several populations that are part of the HapMap project. COL13A1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12872,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA19005,NA19093,NA19099,NA19108,NA19114,NA19116,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240 esv273870 10 71280149 71280475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581870,essv2582404,essv2582993,essv2584380,essv2584492,essv2583806 M 7 6 0 Samples from several populations that are part of the HapMap project. COL13A1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1107415 10 71280181 71280181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042815 S 2 1 0 COL13A1 HuRef nsv470962 10 71307992 71353030 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544960,nssv544962,nssv544961 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL13A1 HGDP00298,HGDP00313,HGDP00556 nsv527896 10 71318322 71319052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704400 S 2026 0 1 COL13A1 nsv520046 10 71343934 71349085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697194 S 2026 0 1 COL13A1 nsv515936 10 71442025 71466364 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665379,nssv681326 M 2026 2 0 "" esv25738 10 71467622 71471125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13639 S 451 0 1 "" NA19099 nsv819142 10 71541763 71541969 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419181 S 2 1 0 H2AFY2 AK1 nsv7054 10 71552203 71585749 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3883 S 9 1 0 AIFM2,SAR1A,TYSND1 NA12878 nsv510229 10 71602473 71608473 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621447,nssv624171 M 4 0 2 "" NA15510,NA18994 nsv831908 10 71640488 71819707 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448592 S 95 1 0 LRRC20,NPFFR1,PPA1 esv1327738 10 71669763 71669763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590526 S 2 1 0 "" HuRef nsv507560 10 71790200 71796200 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623193,nssv619178,nssv620627,nssv617806 M 4 4 0 LRRC20 CHM,NA10860,NA15510,NA18994 esv1276689 10 71797758 71797758 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904636 S 2 1 0 LRRC20 HuRef esv1000318 10 71806875 71815010 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565309 S 3 0 1 LRRC20 HuRef nsv7065 10 71933137 71966413 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1900 S 9 1 0 KIAA1274 NA18555 nsv24389 10 71953017 71956393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42967 M 24 KIAA1274 dgv768n71 10 71964842 72013123 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895701,nsv895700 M 6533 0 2 KIAA1274 IS30197,MS16153 nsv517624 10 71981400 71985220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667460,nssv657410,nssv680905,nssv665660,nssv685957,nssv652572 M 2026 0 6 KIAA1274 nsv467367 10 71985220 72014585 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542682 S 1557 0 1 KIAA1274 NINDS_173 nsv527213 10 71999476 72001421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703613 S 2026 0 1 "" esv2121826 10 72012598 72013040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559742 S 1 0 1 "" NA18507 nsv24432 10 72012813 72012883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43010 M 24 "" nsv831909 10 72033929 72202064 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448593 S 95 0 1 ADAMTS14,C10orf27 nsv526305 10 72056746 72075768 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702587 S 2026 1 0 "" esv2323133 10 72084337 72084771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910423 S 1 0 1 "" NA18507 dgv769n71 10 72094458 72126406 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895703,nsv895702 M 6533 0 2 ADAMTS14 SP54988,SP55021 dgv160n67 10 72095584 72128504 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825451,nsv825454 M 31 2 0 ADAMTS14 NA18542,NA18969 nsv825452 10 72095584 72154908 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439066 S 31 1 0 ADAMTS14 NA18973 esv24062 10 72102026 72102609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21150 S 451 0 1 ADAMTS14 NA07045 nsv819639 10 72115904 72121162 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419695 S 2 1 0 ADAMTS14 AK1 dgv161n67 10 72118471 72121432 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825459,nsv825456,nsv825465,nsv825466,nsv825455 M 31 0 15 ADAMTS14 AK10,AK14,AK2,NA18547,NA18552,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18972,NA18997,NA18999 nsv821367 10 72118471 72121432 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420885 S 1 0 1 ADAMTS14 NA10851 nsv514572 10 72118672 72118728 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627093 S 1414 0 0 ADAMTS14 nsv825457 10 72118674 72119931 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441298 S 31 0 1 ADAMTS14 NA18969 dgv162n67 10 72118674 72120849 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825458,nsv825463,nsv825462,nsv825460,nsv825461 M 31 0 11 ADAMTS14 AK12,AK16,AK18,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18564,NA18592 esv29646 10 72118824 72121307 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17037,esv15859 M 451 28 2 ADAMTS14 NA06985,NA07037,NA07045,NA11894,NA11931,NA12006,NA12044,NA12239,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv514573 10 72118984 72119936 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627094 S 1414 0 0 ADAMTS14 nsv467368 10 72137950 72153364 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542683 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS14 HGDP00774 nsv467369 10 72141778 72164164 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542684 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS14 HGDP00787 nsv895704 10 72156919 72168847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499368 S 6533 0 1 ADAMTS14 SP50159 dgv770n71 10 72156919 72208804 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895707,nsv895705 M 6533 0 2 ADAMTS14,C10orf27 MS16153,MS17208 nsv895706 10 72160108 72174769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597306,nssv1564305 M 6533 0 2 ADAMTS14 IS30197,IS40799 nsv895708 10 72179327 72187212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549795,nssv1573859 M 6533 0 2 ADAMTS14 IS33504,MS18276 nsv819483 10 72182963 72184667 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419309 S 2 1 0 ADAMTS14 AK1 nsv517130 10 72184617 72187212 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678841,nssv672365,nssv677912,nssv697935,nssv673301,nssv672209,nssv692913,nssv667282,nssv675439,nssv662072,nssv692865,nssv653631,nssv678135,nssv669445,nssv675079,nssv688462,nssv674155,nssv685509,nssv685722,nssv666989,nssv651807,nssv658964,nssv654662,nssv680694,nssv672170,nssv676353,nssv683853,nssv683877,nssv677718,nssv662459,nssv659491,nssv652163,nssv680955,nssv657066,nssv677568,nssv670949,nssv685476,nssv675222,nssv681073,nssv670432,nssv659324,nssv692251,nssv692843,nssv667557,nssv691447,nssv668717,nssv656995,nssv672614,nssv676678,nssv685863,nssv681820,nssv689059,nssv661134,nssv685658,nssv671084,nssv692795,nssv683180,nssv660168,nssv674893 M 2026 58 1 ADAMTS14 nsv895709 10 72184617 72194347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588217 S 6533 0 1 ADAMTS14 IS38176 nsv895710 10 72184617 72201703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529839,nssv1533780 M 6533 0 2 ADAMTS14,C10orf27 MS10123,MS11306 nsv524058 10 72187212 72208804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699924 S 2026 0 1 ADAMTS14,C10orf27 esv1359948 10 72197429 72197429 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775393 S 2 1 0 "" HuRef nsv515748 10 72197459 72197523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677169,nssv664667,nssv673018 M 2026 0 3 "" esv259831 10 72205756 72206367 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395496 S 144 0 0 Samples from several populations that are part of the HapMap project. C10orf27 NA18563 nsv517453 10 72264168 72296553 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652060,nssv663845,nssv695667,nssv663020,nssv656561,nssv675557,nssv688367,nssv685263,nssv697099,nssv695575 M 2026 1 9 SGPL1 nsv526539 10 72269503 72301210 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702853 S 2026 1 0 SGPL1 esv268853 10 72275397 72275482 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517082,essv2514204,essv2515539,essv2515902 M 157 4 0 Samples from several populations that are part of the HapMap project. SGPL1 NA11931,NA12043,NA12815,NA12873 esv1086437 10 72275426 72275426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292985 S 2 1 0 SGPL1 HuRef nsv520868 10 72323644 72323767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697658 S 2026 0 1 "" nsv25283 10 72348497 72348682 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43861 M 24 "" nsv526228 10 72350381 72351371 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702494 S 2026 1 0 "" esv5384 10 72414911 72415146 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27825 S 1 0 1 Single Asian sample YH "" YH nsv895711 10 72424160 72462494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531394 S 6533 1 0 "" MS10430 esv1298749 10 72484535 72484607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190897 S 2 0 1 "" HuRef nsv526481 10 72525236 72550518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702790 S 2026 0 1 "" esv27355 10 72526608 72528367 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21369 S 451 0 1 "" NA12489 nsv523819 10 72527421 72529882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699650 S 2026 0 1 "" nsv7077 10 72536112 72554075 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8810 S 9 0 1 "" NA12156 nsv436121 10 72613967 72620592 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466601 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv270237 10 72653492 72653715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496653,essv2501647,essv2511477 M 157 3 0 Samples from several populations that are part of the HapMap project. UNC5B NA07346,NA11894,NA12144 nsv895712 10 72656175 72733444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543578 S 6533 0 1 UNC5B MS16153 nsv528622 10 72661101 72661391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705252 S 2026 0 1 UNC5B nsv895713 10 72670949 72720989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530681 S 6533 0 1 UNC5B MS10311 nsv25434 10 72726469 72726518 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44012 M 24 UNC5B nsv467371 10 72732054 72770272 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542685 S 1557 1 0 SLC29A3 1782681092_A esv23135 10 72826223 72828593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20960 S 451 0 1 CDH23 NA07037 esv2572592 10 72849895 72850536 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260785 S 1 1 0 CDH23 NA18507 nsv7088 10 72852590 72884967 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5296 S 9 1 0 CDH23 NA19129 esv271561 10 72863519 72863848 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558088,essv2540784,essv2571828,essv2546375,essv2521144,essv2526183,essv2542380,essv2536647,essv2522720,essv2570932,essv2556597,essv2545317,essv2523133,essv2531880,essv2577360,essv2525273,essv2535359,essv2552295,essv2547446,essv2529249,essv2558487,essv2577750,essv2520053,essv2530722,essv2537220,essv2546677,essv2552706,essv2578519,essv2544754,essv2523595,essv2541208,essv2538459,essv2543000,essv2540636,essv2565206,essv2534634,essv2561232,essv2549292,essv2519536,essv2531037,essv2532467,essv2567992,essv2528998,essv2570148,essv2553291,essv2559038,essv2551195,essv2569045,essv2573124,essv2555242,essv2566449,essv2529872,essv2573783,essv2527665,essv2534430,essv2573727,essv2543280,essv2571897,essv2526751,essv2529816,essv2538486,essv2535924,essv2537750,essv2548948,essv2533319,essv2547817,essv2525181 M 157 67 0 Samples from several populations that are part of the HapMap project. CDH23 NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10851,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12156,NA12249,NA12489,NA12717,NA12749,NA12750,NA12761,NA12815,NA12873,NA12878,NA12892,NA18502,NA18510,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18566,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18638,NA18858,NA18861,NA18942,NA18943,NA18948,NA18949,NA18951,NA18952,NA18959,NA18964,NA18965,NA18973,NA19005,NA19093,NA19108 esv273539 10 72863521 72863850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581820,essv2583144 M 7 2 0 Samples from several populations that are part of the HapMap project. CDH23 NA12878,NA12892 esv1210256 10 72863553 72863553 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876832 S 2 1 0 CDH23 HuRef esv2343384 10 72885965 72886492 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713900 S 1 0 1 CDH23 NA18507 dgv298e1 10 72907909 72956161 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15982,esv1171,esv1307 M 271 0 0 CDH23 NA19142 nsv523021 10 72910079 73015070 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698700 S 2026 1 0 CDH23 nsv895714 10 72916546 72961172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534727 S 6533 0 1 CDH23 MS11726 esv1958657 10 72926416 72926907 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668015 S 1 0 1 CDH23 NA18507 esv4865 10 72926507 72926840 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27306 S 1 0 1 Single Asian sample YH CDH23 YH esv1004182 10 72926587 72926706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583810 S 3 0 1 CDH23 HuRef nsv24403 10 72926588 72926707 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42981 M 24 CDH23 esv1648968 10 72926588 72926708 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268365 S 2 0 1 CDH23 HuRef nsv524906 10 72950705 72955467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700917 S 2026 0 1 CDH23 nsv524489 10 72962430 72962794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700427 S 2026 0 1 CDH23 nsv7099 10 72978621 73012765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv947,nssv8811 M 9 2 0 CDH23 NA12156,NA19240 nsv467373 10 72982383 72997827 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542687 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH23 HGDP00884 nsv467374 10 72989577 73005048 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542688 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH23 HGDP00994 nsv818774 10 72992635 72998012 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417240 S 112 0 1 CDH23 NA18577 nsv467375 10 72992635 73004416 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542689 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH23 HGDP00857 esv23349 10 72997606 72998307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18384 S 451 3 0 CDH23 NA18861,NA18909,NA19114 nsv831910 10 73065321 73272986 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448594,nssv1448596 M 95 0 2 C10orf105,C10orf54,CDH23,PSAP nsv470963 10 73117287 73179471 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544963,nssv544964 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf105,C10orf54,CDH23 HGDP00313,HGDP00550 nsv895715 10 73122633 73153982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530682 S 6533 0 1 C10orf105,CDH23 MS10311 nsv895716 10 73177651 73254432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546738 S 6533 0 1 C10orf54,CDH23,PSAP MS17208 esv1096295 10 73189912 73189986 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779588 S 2 0 1 C10orf54,CDH23 HuRef esv998631 10 73225135 73225804 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586845 S 3 0 1 CDH23 HuRef nsv467376 10 73293283 73335657 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542690 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00662 nsv508591 10 73300743 73360600 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622700 S 4 0 1 "" NA18994 nsv524610 10 73323873 73333278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700571 S 2026 0 1 "" esv25909 10 73380637 73385001 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17523,esv18087 M 451 0 2 "" NA07045,NA12239 nsv895717 10 73392029 73441712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530683 S 6533 0 1 CHST3 MS10311 nsv895718 10 73392029 73528460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546739 S 6533 0 1 ASCC1,CHST3,SPOCK2 MS17208 nsv7110 10 73408382 73441835 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2846 S 9 1 0 CHST3 NA18555 nsv895719 10 73432194 73442656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592249 S 6533 0 1 CHST3 IS39233 nsv820285 10 73440768 73441086 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418648 S 2 0 1 CHST3 AK1 nsv7204 10 73467464 73503032 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5297 S 9 0 0 SPOCK2 NA19129 nsv895720 10 73480408 73528460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530684 S 6533 0 1 ASCC1,SPOCK2 MS10311 esv1328020 10 73494684 73494988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303591 S 2 0 1 SPOCK2 HuRef nsv515889 10 73502585 73507426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665162,nssv683854 M 2026 0 2 SPOCK2 nsv522541 10 73502585 73515890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705920 S 2026 0 1 SPOCK2 esv24033 10 73532078 73536054 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12932 S 451 0 1 ASCC1 NA18909 nsv442192 10 73532154 73535907 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ASCC1 nsv508592 10 73594038 73656928 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622703 S 4 0 1 ANAPC16,ASCC1 NA18994 nsv895721 10 73603705 73880245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559749 S 6533 1 0 ANAPC16,ASCC1,DDIT4,DNAJB12,MICU1 MS24108 esv269353 10 73663255 73663340 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518628,essv2515559 M 157 2 0 Samples from several populations that are part of the HapMap project. ANAPC16 NA12287,NA12815 esv269646 10 73810910 73810995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516438 S 157 1 0 Samples from several populations that are part of the HapMap project. MICU1 NA12814 esv2554610 10 73852069 73853076 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256289 S 1 1 0 MICU1 NA18507 nsv470964 10 73860278 73987858 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544966 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MICU1 HGDP00453 esv1734966 10 73964797 73964797 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776373 S 2 1 0 MICU1 HuRef nsv895722 10 73987858 74244069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592567 S 6533 0 1 MCU,MICU1,MIR4676 IS39243 nsv895723 10 74088485 74244069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537959 S 6533 0 1 MCU,MIR4676 MS13430 dgv299e1 10 74105644 74277126 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9093,esv200,esv223 M 271 0 0 MCU,MIR4676 NA19132 nsv7121 10 74287804 74319736 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10764 S 9 1 0 MCU NA18956 nsv528473 10 74341617 74479602 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705076 S 2026 1 0 OIT3,P4HA1,PLA2G12B nsv895724 10 74436875 74593568 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596819 S 6533 1 0 ECD,NUDT13,P4HA1 IS40646 nsv895725 10 74437408 74593568 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568959 S 6533 0 1 ECD,NUDT13,P4HA1 IS31373 nsv895726 10 74449543 74528776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514696 S 6533 0 1 P4HA1 SP56047 nsv527219 10 74478051 74564381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703619 S 2026 0 1 ECD,NUDT13,P4HA1 esv2591982 10 74511887 74513328 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266917 S 1 0 1 P4HA1 NA18507 esv1950559 10 74512418 74513033 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657021 S 1 0 1 P4HA1 NA18507 esv3968 10 74512582 74512938 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26409 S 1 0 1 Single Asian sample YH P4HA1 YH esv9433 10 74512617 74512841 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31874 S 1 0 1 P4HA1 SJK esv5620 10 74533602 74534344 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28061 S 1 0 0 "" SJK nsv7132 10 74570596 74610248 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8812 S 9 0 1 ECD,FAM149B1 NA12156 nsv514574 10 74593536 74593808 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627095 S 1414 0 0 ECD nsv825467 10 74692353 74698780 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433847 S 31 0 1 C10orf103,TTC18 NA18526 nsv831911 10 74743644 74913210 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448597 S 95 0 1 ANXA7,PPP3CB,TTC18,ZMYND17 esv28839 10 74794355 74797666 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11332 S 451 0 2 "" NA18517,NA19147 nsv895727 10 74878961 74915258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514697 S 6533 0 1 PPP3CB SP56047 esv2534689 10 74897459 74899092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187707 S 1 0 1 PPP3CB NA18507 esv2430194 10 74986977 74988477 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275110 S 1 0 1 USP54 NA18507 nsv7143 10 75035036 75070025 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5298 S 9 0 1 MYOZ1 NA19129 nsv436109 10 75043199 75051439 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466602 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498733 10 75043795 75051215 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585451 S 9 0 1 "" nsv25103 10 75043796 75051193 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43681 M 24 "" esv28047 10 75044000 75051412 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19743 S 451 0 4 "" NA18502,NA18505,NA18916,NA19099 nsv831912 10 75079115 75270209 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448598 S 95 1 0 AGAP5,BMS1P4,CAMK2G,CHCHD1,FUT11,KIAA0913,LOC100507331,NDST2,SEC24C,SYNPO2L esv24583 10 75088642 75166333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15392,esv17272 M 451 0 2 AGAP5,BMS1P4 NA07045,NA12878 esv2535267 10 75089428 75090282 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329718 S 1 0 0 "" NA18507 esv6219 10 75089700 75089793 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28660 S 1 0 0 "" SJK nsv8688 10 75096530 75127616 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24353,nssv19285,nssv21987 M 31 0 3 Samples from several populations that are part of the HapMap project. AGAP5 NA18980,NA19132,NA19221 nsv825468 10 75145453 75352327 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439067 S 31 1 0 BMS1P4,C10orf55,CAMK2G,CHCHD1,FUT11,KIAA0913,LOC100507331,NDST2,PLAU,SEC24C NA18973 dgv46n21 10 75219922 75363701 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517549,nsv524937 M 2026 0 9 C10orf55,CAMK2G,KIAA0913,LOC100507331,NDST2,PLAU nsv7154 10 75290471 75324175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv948 S 9 1 0 CAMK2G NA19240 esv21502 10 75303521 75304740 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20205 S 451 0 1 CAMK2G NA07037 esv272722 10 75324260 75324566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579848 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv7442 10 75339049 75339126 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29883 S 1 1 0 "" SJK nsv521018 10 75343107 75375983 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697738 S 2026 1 0 C10orf55,PLAU nsv25246 10 75439528 75439841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43824 M 24 VCL nsv515824 10 75593452 76129675 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705859,nssv678770,nssv671658,nssv706095,nssv697596,nssv695800,nssv685614,nssv698293,nssv664889,nssv693893,nssv692774,nssv678982 M 2026 1 11 ADK esv34143 10 75608844 75759129 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ADK nsv507561 10 75644716 75650716 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623205 S 4 1 0 ADK NA18994 esv2466100 10 75693903 75695257 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374513 S 1 0 1 ADK NA18507 nsv895728 10 75714630 75902109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508278 S 6533 0 1 ADK SP54579 dgv112n27 10 75917111 76043910 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467378,nsv467379 M 1557 0 2 ADK NINDS_145,NINDS_147 nsv7165 10 75924200 75953342 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10765 S 9 1 0 ADK NA18956 esv2641301 10 75937957 75939452 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308425 S 1 0 1 ADK NA18507 esv2567854 10 75958833 75960361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374312 S 1 0 1 ADK NA18507 nsv509359 10 76174946 76250373 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623691 S 4 1 0 "" NA18994 nsv895729 10 76222254 76271811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511434 S 6533 0 1 KAT6B SP55021 esv994293 10 76248606 76249559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564974 S 3 1 0 "" HuRef nsv513011 10 76248874 76249177 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625669 S 1 1 0 "" 1 esv1384684 10 76249104 76249104 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750820 S 2 1 0 "" HuRef esv21440 10 76254926 76257721 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10872 S 451 0 2 KAT6B NA07037,NA12239 nsv7176 10 76293704 76338694 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8813 S 9 0 1 KAT6B NA12156 nsv7188 10 76475109 76507128 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5299 S 9 1 0 DUPD1 NA19129 nsv825469 10 76506268 76509498 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432261 S 31 0 1 "" AK20 nsv7199 10 76507346 76542084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv949 S 9 1 0 DUSP13,SAMD8 NA19240 nsv518639 10 76512931 76537905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696088 S 2026 0 1 DUSP13 nsv516793 10 76524570 76537905 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670904,nssv655852 M 2026 2 0 DUSP13 nsv831913 10 76531029 76691501 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448599 S 95 0 1 COMTD1,DUSP13,SAMD8,VDAC2 nsv520500 10 76543612 76561102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671887,nssv690672 M 2026 0 2 SAMD8 esv997196 10 76556539 76565075 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565570 S 3 0 1 SAMD8 HuRef nsv7210 10 76688739 76707766 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8814 S 9 1 0 "" NA12156 esv273221 10 76725928 76726013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581571 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv991439 10 76781867 76781867 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583295 S 3 1 0 ZNF503-AS1 HuRef esv1490079 10 76781905 76781905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090692 S 2 1 0 ZNF503-AS1 HuRef nsv7221 10 76789974 76823102 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5300 S 9 1 0 ZNF503-AS1 NA19129 dgv163n67 10 76811497 76848849 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825470,nsv825471 M 31 2 0 ZNF503,ZNF503-AS2 NA18969,NA18973 nsv895730 10 76822526 76840691 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510812 S 6533 0 1 ZNF503,ZNF503-AS2 SP54988 nsv825472 10 76865718 76870965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437627 S 31 0 1 "" NA18949 esv269891 10 76899034 76899380 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526215,essv2522735,essv2570715,essv2576731,essv2535440,essv2554029,essv2529374,essv2540303,essv2564862,essv2567317,essv2570195,essv2535629,essv2558975,essv2573264,essv2555194,essv2573976,essv2527609,essv2555843,essv2534385,essv2573381,essv2543308,essv2572143,essv2525655 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931,NA12044,NA12154,NA12249,NA12287,NA12749,NA18552,NA18558,NA18582,NA18593,NA18608,NA18638,NA18942,NA18943,NA18951,NA18952,NA18956,NA18959,NA18964,NA18965,NA18973,NA18980 dgv300e1 10 76904943 77122607 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7845,essv20385,essv12623,essv23601 M 271 0 0 "" NA10830,NA12006,NA18500,NA18558 dgv301e1 10 76904943 77440455 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv682,esv544 M 271 C10orf11 esv1163033 10 76909759 76909952 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139233 S 2 0 1 "" HuRef nsv831914 10 77020205 77190752 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448607,nssv1448601,nssv1448604,nssv1448608,nssv1448600,nssv1448603,nssv1448602,nssv1448605 M 95 8 0 "" nsv507562 10 77027206 77033206 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620630 S 4 1 0 "" NA15510 nsv7232 10 77061384 77094839 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv950 S 9 1 0 "" NA19240 essv17709 10 77090565 77440455 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C10orf11 NA12872 essv19319 10 77206052 77406628 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C10orf11 NA12872 nsv8689 10 77213686 77372629 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17381 S 31 1 0 Samples from several populations that are part of the HapMap project. C10orf11 NA12872 esv34687 10 77225497 77406628 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979049,essv6979048,essv6979047,essv6986781,essv6986782 M 771 1 0 C10orf11 NA12872 esv2625608 10 77373342 77374735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352212 S 1 0 1 C10orf11 NA18507 esv26573 10 77415584 77416094 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18377 S 451 1 0 C10orf11 NA12414 esv2750632 10 77476908 77488640 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99805 S 51 0 1 C10orf11 22086 esv275537 10 77488041 77489362 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585123 S 1250 0 1 C10orf11 esv33762 10 77506314 77507039 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100003 S 51 1 0 C10orf11 22086 esv32829 10 77520974 77537175 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93184 S 51 1 0 C10orf11 22170 nsv519640 10 77592125 77612829 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696966 S 2026 1 0 C10orf11 nsv524107 10 77597562 77600442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699985 S 2026 0 1 C10orf11 nsv526459 10 77597562 77600442 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702762 S 2026 1 0 C10orf11 nsv831916 10 77812101 78010498 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448609 S 95 1 0 C10orf11 nsv7243 10 77912721 77939927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1901,nssv8815,nssv3884 M 9 0 3 C10orf11 NA12156,NA12878,NA18555 nsv508594 10 77914325 77951255 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620112,nssv622708 M 4 0 2 C10orf11 NA15510,NA18994 nsv511457 10 77916098 77930700 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626071 S 1 0 1 C10orf11 1 nsv895731 10 77916098 77985230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554528,nssv1582437,nssv1553760 M 6533 0 3 C10orf11 IS35952,MS20286,MS20850 esv33864 10 77917922 77928698 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100835,essv100982,essv94064,essv93126,essv95302,essv95896,essv99106,essv92749,essv99763,essv93326,essv99571,essv94973,essv92601,essv97631,essv100624,essv100390,essv94203 M 51 17 0 C10orf11 21656,21693,21802,21863,21872,21911,21938,21944,22086,22170,22217,22231,22233,22278,22298,22300,22394 nsv820128 10 77922171 77932396 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418590 S 2 1 0 C10orf11 AK1 esv2437036 10 77924328 77931211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385492 S 1 0 1 C10orf11 NA18507 nsv512169 10 77925072 77931198 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624734 S 1 0 1 C10orf11 1 nsv435912 10 77925299 77931321 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466603 S 2 0 1 C10orf11 NA15510 esv2397407 10 77925397 77931223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509343 S 1 0 1 C10orf11 NA18507 esv2431549 10 77925426 77929655 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253744 S 1 0 1 C10orf11 NA18507 nsv820526 10 77925486 77931015 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420886 S 1 0 1 C10orf11 NA10851 nsv825473 10 77925486 77931015 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430773,nssv1430006,nssv1434588,nssv1425178,nssv1425979,nssv1439853,nssv1432262,nssv1441300 M 31 0 8 C10orf11 AK14,AK16,AK2,AK20,AK4,NA18537,NA18570,NA18969 esv5023 10 77925549 77931107 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27464 S 1 0 1 Single Asian sample YH C10orf11 YH nsv498734 10 77925578 77931032 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586252 S 9 0 1 C10orf11 esv8257 10 77925587 77931045 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30698 S 1 0 1 C10orf11 SJK esv26848 10 77925619 77931015 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16443 S 451 21 0 C10orf11 NA11995,NA12287,NA12489,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1007286 10 77925882 77931015 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586509 S 3 1 0 C10orf11 HuRef dgv164n67 10 77926190 77928899 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825474,nsv825478,nsv825477 M 31 0 16 C10orf11 AK10,AK12,AK18,AK6,AK8,NA18526,NA18542,NA18552,NA18564,NA18566,NA18582,NA18949,NA18951,NA18972,NA18973,NA18997 esv988231 10 77926190 77928899 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587218 S 3 1 0 C10orf11 HuRef nsv514575 10 77926416 77928088 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628064 S 1414 0 1 C10orf11 nsv442585 10 77927067 77930591 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C10orf11 nsv518212 10 77938865 77942255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695636 S 2026 0 1 C10orf11 nsv507563 10 77939632 77945632 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619181 S 4 1 0 C10orf11 NA10860 nsv895732 10 77944824 77985230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552684 S 6533 0 1 C10orf11 MS19584 nsv7254 10 78006929 78027568 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1902 S 9 0 1 "" NA18555 esv993379 10 78014068 78023400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564986 S 3 0 1 "" HuRef esv2602304 10 78015657 78022010 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264879 S 1 0 1 "" NA18507 nsv512170 10 78016210 78021800 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624735 S 1 0 1 "" 1 nsv435914 10 78016311 78024153 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466604 S 2 0 1 "" NA15510 esv2108151 10 78016416 78021773 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877526 S 1 0 1 "" NA18507 esv7769 10 78016547 78021644 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30210 S 1 0 1 "" SJK esv3525 10 78016551 78021650 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25966 S 1 0 1 Single Asian sample YH "" YH nsv498735 10 78016595 78021599 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586263 S 9 0 1 "" esv32707 10 78027056 78028809 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99757 S 51 0 1 "" 22086 esv1156134 10 78046568 78046730 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836546 S 2 0 1 "" HuRef esv1382754 10 78046768 78046768 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702573 S 2 1 0 "" HuRef esv33543 10 78062357 78065579 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100031 S 51 1 0 "" 22086 nsv831917 10 78080901 78204770 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448610 S 95 0 1 "" esv26472 10 78127478 78134484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15005 S 451 0 1 "" NA11894 nsv831918 10 78133256 78326019 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448612,nssv1448611 M 95 2 0 KCNMA1 esv270560 10 78166658 78166756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496835,essv2509042,essv2505280,essv2505729,essv2507114,essv2495595,essv2506743,essv2498980,essv2510880,essv2510484 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18522,NA18853,NA18861,NA18870,NA18916,NA19108,NA19114,NA19116,NA19172 esv2578557 10 78186478 78187537 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281964 S 1 1 0 "" NA18507 nsv508595 10 78210546 78272380 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617380 S 4 0 1 "" CHM esv33418 10 78221544 78223751 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100059 S 51 0 1 "" 22086 nsv24056 10 78224919 78228589 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42634 M 24 "" esv33271 10 78234114 78236210 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99793 S 51 0 1 "" 22086 esv1525111 10 78248928 78249056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232644 S 2 0 1 "" HuRef esv2567368 10 78287059 78287418 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161820 S 1 0 1 "" NA18507 nsv819647 10 78305025 78305416 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418934 S 2 1 0 KCNMA1 AK1 nsv7265 10 78447282 78491947 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8816 S 9 0 1 KCNMA1 NA12156 esv2546728 10 78470415 78471927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376000 S 1 0 1 KCNMA1 NA18507 esv2117658 10 78470819 78471418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919184 S 1 0 1 KCNMA1 NA18507 esv6959 10 78470897 78471243 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29400 S 1 0 1 KCNMA1 SJK esv999915 10 78470908 78471226 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574912 S 3 0 1 KCNMA1 HuRef esv1199417 10 78470917 78471236 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619303 S 2 0 1 KCNMA1 HuRef nsv24354 10 78470918 78471236 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42932 M 24 KCNMA1 esv267825 10 78666145 78666359 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518147 S 157 1 0 Samples from several populations that are part of the HapMap project. KCNMA1 NA12872 nsv831919 10 78721811 78899964 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448613 S 95 0 1 KCNMA1 essv11507 10 78781397 78996345 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. KCNMA1 NA19173 dgv302e1 10 78781397 79263477 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv510,esv717 M 271 DLG5,KCNMA1 nsv8690 10 78782756 78785132 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22904 S 31 0 1 Samples from several populations that are part of the HapMap project. KCNMA1 NA18860 esv2372613 10 78806214 78806591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620133 S 1 0 1 KCNMA1 NA18507 nsv7276 10 78834899 78840778 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8817 S 9 0 1 KCNMA1 NA12156 nsv8692 10 78841676 78844758 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19957 S 31 1 0 Samples from several populations that are part of the HapMap project. KCNMA1 NA11830 nsv7287 10 78865214 78910212 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8818 S 9 0 1 KCNMA1 NA12156 esv33067 10 78904739 78905219 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98545 S 51 0 1 KCNMA1 22085 esv2641092 10 78949344 78950223 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280620 S 1 1 0 KCNMA1 NA18507 esv1550853 10 78949979 78949979 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202522 S 2 1 0 KCNMA1 HuRef dgv303e1 10 78988070 79263477 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7734,essv7462 M 271 0 0 DLG5,KCNMA1 NA18633 nsv510230 10 79017550 79023550 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618331,nssv622271 M 4 0 2 KCNMA1 CHM,NA10860 esv34251 10 79039280 79263477 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979806,essv6986951,essv6979805,essv6979807,essv6990410 M 771 1 0 DLG5,KCNMA1 NA18633 esv26826 10 79066514 79068667 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19888,esv16460 M 451 0 3 KCNMA1 NA07037,NA07045,NA12878 nsv895733 10 79069376 79196399 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521428 S 6533 1 0 "" SP52371 nsv895734 10 79168987 79230867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550675 S 6533 1 0 DLG5 MS18533 nsv895735 10 79168987 79286611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562853 S 6533 1 0 DLG5 MS25755 nsv7299 10 79176254 79214917 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10766,nssv8819 M 9 2 0 "" NA12156,NA18956 esv34173 10 79201982 79223598 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 DLG5 esv34062 10 79201982 79237105 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 DLG5 nsv8693 10 79206191 79209280 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19548 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 esv27942 10 79355748 79357054 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13834 S 451 0 2 DLG5,LOC100128292 NA07037,NA07045 nsv7310 10 79392747 79437471 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8820 S 9 0 1 POLR3A NA12156 nsv895736 10 79410268 79584196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526887 S 6533 1 0 POLR3A,RPS24 SP57950 nsv7321 10 79414124 79422996 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9934 S 9 1 0 POLR3A NA18507 nsv7205 10 79422629 79441411 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv951 S 9 0 0 POLR3A NA19240 nsv437689 10 79774647 79784171 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467570 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 nsv467384 10 79779127 80766595 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542694 S 1557 1 0 LOC283050,ZMIZ1 1780862456_A esv27163 10 79813408 79814384 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21399 S 451 0 1 "" NA18861 nsv895737 10 79857711 79908148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547446 S 6533 1 0 "" MS17380 nsv831920 10 79908488 80159580 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448614 S 95 0 1 "" esv26719 10 79910403 79911419 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17095 S 451 0 1 "" NA19257 dgv113n27 10 79937005 79984306 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467386,nsv467385 M 1557 0 2 "" HGDP00788,HGDP01075 nsv895738 10 79941492 79998693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547447 S 6533 1 0 "" MS17380 esv1305584 10 79952834 79952834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341398 S 2 1 0 "" HuRef nsv895739 10 80014748 80116210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547448 S 6533 1 0 "" MS17380 esv992533 10 80057232 80070983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564884 S 3 0 1 "" HuRef nsv469706 10 80084776 80241593 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649727 M 265 0 16 Samples from several populations that are part of the HapMap project. "" nsv517525 10 80199208 80208515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698006,nssv652274,nssv689964 M 2026 0 3 "" esv6239 10 80219220 80219311 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28680 S 1 1 0 "" SJK nsv7332 10 80225848 80270069 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1904 S 9 0 1 "" NA18555 esv268692 10 80266604 80266959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496818,essv2494253,essv2493236,essv2504273,essv2496189,essv2501168,essv2508935,essv2506175,essv2494043,essv2513313,essv2495548,essv2501273,essv2504793,essv2506669,essv2497076,essv2499627,essv2512191,essv2501730,essv2498050 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18504,NA18505,NA18511,NA18516,NA18522,NA18523,NA18871,NA18907,NA18916,NA19093,NA19099,NA19108,NA19190,NA19225,NA19238,NA19239,NA19240 esv273158 10 80266613 80266936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584195,essv2584397,essv2583838 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv525000 10 80379684 80380491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701033 S 2026 0 1 LOC283050 nsv7343 10 80385008 80448772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3886,nssv10767 M 9 2 0 LOC283050 NA12878,NA18956 nsv895740 10 80462307 80495455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529840 S 6533 0 1 LOC283050 MS10123 nsv507564 10 80467634 80473634 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623215 S 4 1 0 LOC283050 NA18994 nsv516458 10 80470952 80472884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668530,nssv681244 M 2026 0 2 LOC283050 nsv469807 10 80472833 80642432 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649828 M 265 0 5 Samples from several populations that are part of the HapMap project. LOC283050,ZMIZ1 nsv895741 10 80480349 80744822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585917 S 6533 0 1 LOC283050,ZMIZ1 IS37646 esv26238 10 80495985 80501427 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12224 S 451 0 5 LOC283050,ZMIZ1 NA07037,NA07045,NA11995,NA12156,NA12878 esv988762 10 80550324 80551093 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587268 S 3 0 1 ZMIZ1 HuRef nsv470965 10 80577153 80629523 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544968,nssv544967 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZMIZ1 HGDP00550,HGDP00661 esv269188 10 80589352 80589437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517201 S 157 1 0 Samples from several populations that are part of the HapMap project. ZMIZ1 NA18970 nsv25450 10 80595726 80595726 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44028 M 24 ZMIZ1 nsv895742 10 80601487 80700243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546740 S 6533 0 1 ZMIZ1 MS17208 nsv895743 10 80602613 80641816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543579 S 6533 0 1 ZMIZ1 MS16153 nsv831921 10 80622265 80746783 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448619,nssv1448615,nssv1448616,nssv1448618 M 95 0 4 ZMIZ1 esv28147 10 80672138 80673544 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10650 S 451 0 2 ZMIZ1 NA07037,NA07045 esv33105 10 80673820 80674857 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94923,essv97992 M 51 0 2 ZMIZ1 22231,22259 nsv521285 10 80730323 80744822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697887 S 2026 0 1 ZMIZ1 nsv525995 10 80735207 80739419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702220 S 2026 0 1 ZMIZ1 nsv523745 10 80735207 80744822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699561 S 2026 0 1 ZMIZ1 esv2471817 10 80761874 80763649 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364380 S 1 0 1 "" NA18507 esv2390306 10 80762016 80762955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715716 S 1 0 1 "" NA18507 esv3936 10 80762141 80762863 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26377 S 1 0 1 Single Asian sample YH "" YH esv6286 10 80762180 80762784 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28727 S 1 0 1 "" SJK nsv819846 10 80782922 80783273 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418826 S 2 0 1 PPIF AK1 nsv470966 10 80805051 80867630 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544969 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZCCHC24 HGDP00599 nsv895744 10 80806021 80845092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546741 S 6533 0 1 ZCCHC24 MS17208 nsv467389 10 80806021 80848384 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542697 S 1557 0 1 ZCCHC24 NINDS_49 esv25143 10 80806790 80808705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18010 S 451 0 1 "" NA12414 nsv819278 10 80812678 80813200 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418980 S 2 0 1 ZCCHC24 AK1 nsv819484 10 80814566 80815587 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419154 S 2 1 0 ZCCHC24 AK1 esv29267 10 80824270 80825592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15472 S 451 0 1 ZCCHC24 NA07045 esv26237 10 80845053 80847043 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14183 S 451 1 0 ZCCHC24 NA12878 esv2521292 10 80846035 80847537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260590 S 1 0 1 ZCCHC24 NA18507 esv2142846 10 80846729 80847320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862050 S 1 0 1 ZCCHC24 NA18507 esv1008347 10 80846909 80847141 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567592 S 3 0 1 ZCCHC24 HuRef esv2397769 10 80857982 80858429 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577987 S 1 0 1 ZCCHC24 NA18507 esv26810 10 80874637 80876522 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12967 S 451 0 2 ZCCHC24 NA07037,NA07045 nsv436110 10 80918845 81241659 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466605 S 2 0 1 Samples from several populations that are part of the HapMap project. EIF5AL1,LOC650623,SFTPA2 NA18505 nsv7206 10 80930678 81971612 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10768,nssv952,nssv6403 M 9 0 0 ANXA11,C10orf57,EIF5AL1,LOC100288974,LOC219347,LOC439990,LOC642361,LOC650623,MBL1P,PLAC9,SFTPA1,SFTPA2,SFTPD NA12156,NA18956,NA19240 nsv895745 10 80943081 81675042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592675 S 6533 1 0 EIF5AL1,LOC100288974,LOC642361,LOC650623,MBL1P,SFTPA1,SFTPA2 IS39243 essv24085 10 80945468 81231464 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. EIF5AL1,LOC650623,SFTPA2 NA10859 nsv428234 10 80945468 81722592 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451923,nssv451927,nssv451926,nssv451925,nssv451924 M 62 0 5 EIF5AL1,LOC100288974,LOC642361,LOC650623,MBL1P,SFTPA1,SFTPA2,SFTPD HGDP00449,HGDP00463,HGDP00986,HGDP01093,NA19257 dgv304e1 10 80945468 81810835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20301,essv11218,essv22041,essv5587,essv20367,essv2196,essv18749,essv22300,essv22204,essv11541,esv508,essv20967,esv865,essv17118,essv20649 M 271 0 0 EIF5AL1,LOC100288974,LOC219347,LOC642361,LOC650623,MBL1P,SFTPA1,SFTPA2,SFTPD NA06985,NA10830,NA12044,NA12144,NA12154,NA12801,NA12874,NA12892,NA18529,NA18960,NA19171,NA19173,NA19204 nsv8694 10 80982308 81043875 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24379 S 31 1 0 Samples from several populations that are part of the HapMap project. SFTPA2 NA19221 dgv771n71 10 80993223 81113902 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895746,nsv895747 M 6533 0 2 LOC650623 IS34599,SP53041 dgv772n71 10 80993223 81149353 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895748,nsv895750 M 6533 2 0 LOC650623 IS38651,MS21402 nsv895749 10 81012533 81113902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562897 S 6533 1 0 LOC650623 MS25768 nsv442586 10 81053880 81055405 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8695 10 81058203 81103131 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19987,nssv21133 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA18504 dgv305e1 10 81078095 81231464 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15059,essv16796,essv23552 M 271 0 0 LOC650623 NA06993,NA18872,NA19129 dgv306e1 10 81078095 81553432 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5467,essv22461,essv24894,essv21168,essv4951,essv22492,essv10691,essv19950,essv23885,essv777,essv20553,essv18257,essv3807,essv13536 M 271 0 0 LOC650623,SFTPA1,SFTPA2 NA07000,NA07056,NA10846,NA11830,NA11882,NA12761,NA12813,NA12814,NA18632,NA18637,NA18855,NA18943,NA18956,NA19160 nsv895751 10 81113902 81255961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544858 S 6533 0 1 LOC650623 MS16558 nsv895752 10 81113902 81273473 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556781 S 6533 1 0 LOC650623 MS22166 esv24649 10 81127471 81226767 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13661,esv19148,esv12026,esv13349 M 451 3 10 "" NA06985,NA07045,NA11931,NA12044,NA12156,NA12239,NA12489,NA12749,NA12878,NA18511,NA18523,NA19129,NA19190 nsv8696 10 81129619 81131391 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19629,nssv21884,nssv19293,nssv18212 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12740,NA18517 nsv8697 10 81139825 81175852 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17599,nssv19066,nssv19727,nssv20198,nssv22403,nssv18534,nssv19324,nssv24405 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA18552,NA18563,NA18572,NA18972,NA18975,NA19221 esv1005705 10 81141417 81162359 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586057 S 3 1 0 "" HuRef nsv895753 10 81205339 81403637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551633 S 6533 1 0 SFTPA1,SFTPA2 MS18956 nsv8698 10 81211535 81213143 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19040 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv508596 10 81228718 81548738 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622712 S 4 0 1 LOC650623,SFTPA1,SFTPA2 NA18994 nsv436104 10 81230432 81552140 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466607 S 2 0 1 Samples from several populations that are part of the HapMap project. LOC650623,SFTPA1,SFTPA2 NA18505 nsv8700 10 81380568 81432957 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19787,nssv21193,nssv21163,nssv21522,nssv20047 M 31 1 4 Samples from several populations that are part of the HapMap project. LOC650623 NA11830,NA18502,NA18504,NA18563 dgv773n71 10 81382515 81504056 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895754,nsv895755 M 6533 4 0 LOC650623 IS36298,MS13241,MS13808,MS25755 nsv895756 10 81415378 81497813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536410 S 6533 1 0 LOC650623 MS12771 essv4147 10 81418250 81553432 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC650623 NA18555 nsv469639 10 81422753 81589260 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649566 M 265 0 14 Samples from several populations that are part of the HapMap project. LOC642361,LOC650623 nsv471668 10 81422754 81589260 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549767,nssv549762,nssv549766,nssv549779,nssv549765,nssv549776,nssv549778,nssv549764,nssv549760,nssv549772,nssv549761,nssv549769,nssv549763,nssv549768,nssv549777,nssv549771,nssv549773,nssv549770,nssv549774,nssv549775 M 48 20 0 LOC642361,LOC650623 JK1051,JK1058,JK1688,JK776,NA10469,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA11523,NA15724,NA15730,NA15733,NA17016,NA17017,NA17020,NA17058,P86GA esv2422028 10 81425093 81489917 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138071,essv5094091,essv5008295,essv5072026,essv5060996,essv5111957,essv5156020,essv5080731,essv5130024,essv5131324,essv5046195,essv5124746,essv5119770,essv5021763,essv5045643,essv5145268,essv5156821,essv5108176,essv5124799,essv5100347,essv5035823,essv5116200,essv5112799,essv5105141,essv5074700,essv5061553,essv5124120,essv5061431,essv5015669,essv5076068,essv5126832,essv5027626,essv5040752,essv5138545,essv5083777,essv5131474,essv5105715,essv5054945,essv5020057,essv5041831,essv5083236,essv5027095,essv5091538,essv5051773,essv5135959,essv5082185,essv5108138,essv5157416,essv5021764,essv5034426,essv5071609,essv5078910,essv5085559,essv5044960,essv5010760,essv5014477,essv5105137,essv5156550,essv5131689,essv5101196,essv5157479,essv5019538,essv5078690,essv5064442,essv5121073,essv5130614,essv5160530,essv5055981,essv5042124,essv5116798,essv5095111,essv5086311,essv5091204,essv5009364,essv5067781,essv5139426,essv5079876,essv5087062,essv5155787,essv5013841,essv5003624,essv5082112,essv5047318,essv5027507,essv5009072,essv5141190,essv5137832,essv5054420,essv5071107,essv5017461,essv5078958,essv5051840,essv5026264,essv5130960,essv5033237,essv5052985,essv5036178,essv5160062,essv5110655,essv5043979,essv5089267,essv5012889,essv5061803,essv5066994,essv5069275,essv5062413,essv5020785,essv5013893,essv5069589,essv5020474,essv5098357,essv5157564,essv5017320,essv5121798,essv5009093,essv5149576,essv5144961,essv5067468,essv5101755,essv5108704,essv5088201,essv5139483,essv5028779,essv5085954,essv5056735,essv5095524,essv5055028,essv5114968,essv5016645,essv5038274,essv5084760,essv5037510,essv5007077,essv5006086,essv5135542,essv5151571,essv5157922,essv5119360,essv5023463,essv5144738,essv5157642,essv5052535,essv5055681,essv5146066,essv5047432,essv5011226,essv5103702,essv5058094,essv5062099,essv5116693,essv5159411,essv5033167,essv5147605,essv5100292,essv5056085,essv5002239,essv5086423,essv5043939,essv5067246,essv5040468,essv5048241,essv5130189,essv5106576,essv5048256,essv5145174,essv5045170,essv5011790,essv5089337,essv5016352,essv5066588,essv5148133,essv5009130,essv5146655,essv5036362,essv5138070,essv5159983,essv5007474,essv5065212,essv5082767,essv5153261,essv5039210,essv5153840,essv5017339,essv5092143,essv5027447,essv5118745,essv5154174,essv5080849,essv5034164,essv5016965,essv5133474,essv5045701,essv5130317,essv5077917,essv5082007,essv5119861,essv5018437,essv5041752,essv5081679,essv5039874,essv5077387,essv5121282,essv5055532,essv5152816,essv5035588,essv5105572,essv5070624,essv5136967,essv5017781,essv5075284,essv5056521,essv5159292,essv5058458,essv5061855,essv5005922,essv5061446,essv5077009,essv5003150,essv5065383,essv5070478,essv5081803,essv5109892,essv5141096,essv5108941,essv5073862,essv5099664,essv5018248,essv5125106,essv5043561,essv5093387,essv5140664,essv5129656,essv5149909,essv5005657,essv5010645,essv5008782,essv5087665,essv5045408,essv5010536,essv5013736,essv5098593,essv5153377,essv5008640,essv5064261,essv5148505,essv5150226,essv5015698,essv5085984,essv5151372,essv5128358,essv5038608,essv5080046,essv5046050,essv5036441,essv5026804,essv5039684,essv5129841,essv5069947,essv5106282,essv5145285,essv5132873,essv5144610,essv5030780,essv5064690,essv5078417,essv5101177,essv5027506,essv5040944,essv5119487,essv5131404,essv5123042,essv5149342,essv5153452,essv5116529,essv5052515,essv5076748,essv5147441,essv5121917,essv5014622,essv5009008,essv5074748,essv5145589,essv5144520,essv5155978,essv5160529,essv5072615,essv5041389,essv5041800,essv5147226,essv5105194,essv5157510,essv5154753,essv5003575,essv5127212,essv5034800,essv5073217,essv5113906,essv5070976,essv5080540,essv5109955,essv5109022,essv5097881,essv5081058,essv5039058,essv5142247,essv5128438,essv5039089,essv5118088,essv5083822,essv5010141,essv5017364,essv5018605,essv5108215,essv5159084,essv5074678,essv5097109,essv5153845,essv5097222,essv5069254,essv5047809,essv5058044,essv5123077,essv5084208,essv5002661,essv5012284,essv5154984,essv5038560,essv5120262,essv5114212,essv5029464,essv5066031,essv5056644,essv5006383,essv5083724,essv5083054,essv5029389,essv5059858,essv5151506,essv5156645,essv5143733,essv5043590,essv5098681,essv5060585,essv5003672,essv5029185,essv5053009,essv5155336,essv5033624,essv5157698,essv5035717,essv5007105,essv5085809,essv5101140,essv5156200,essv5114009,essv5142224,essv5054580,essv5114347,essv5122198,essv5139198,essv5119061,essv5120846,essv5095734,essv5057254,essv5102187,essv5013666,essv5063089,essv5018643,essv5093014,essv5108166,essv5144571,essv5098276,essv5086396,essv5108217,essv5137032,essv5058930,essv5085988,essv5082933,essv5011445,essv5101302,essv5153986,essv5068104,essv5087567,essv5035564,essv5030874,essv5113363,essv5142563,essv5027591,essv5046762,essv5045871,essv5125966,essv5136855,essv5119244,essv5076622,essv5009322,essv5037342,essv5152050,essv5070702,essv5032088,essv5141798,essv5105594,essv5145324,essv5026460,essv5075837,essv5100321,essv5003684,essv5133245,essv5063340,essv5085479,essv5129038,essv5127671,essv5122507,essv5031076,essv5040007,essv5037362,essv5150243,essv5159845,essv5090423,essv5037686,essv5069051,essv5035533,essv5078146,essv5123591,essv5122984,essv5033547,essv5160470,essv5101777,essv5012481,essv5021083,essv5004009,essv5074950,essv5062221,essv5025163,essv5104828,essv5014299,essv5122223,essv5124302,essv5017057,essv5036296,essv5135766,essv5030496,essv5012162,essv5138865,essv5092269,essv5155519,essv5158150,essv5067914,essv5087898,essv5141028,essv5073801,essv5083739,essv5018602,essv5157909,essv5029749,essv5061194,essv5041703,essv5052242,essv5020095,essv5102631,essv5062701,essv5117063,essv5008777,essv5018147,essv5066935,essv5056569,essv5138765,essv5049999,essv5008030,essv5152769,essv5092850,essv5006580,essv5030647,essv5026080,essv5072964,essv5114507,essv5144760,essv5033641,essv5079308,essv5039880,essv5016633,essv5030505,essv5054039,essv5140586,essv5031671,essv5151681,essv5002813,essv5009169,essv5120956,essv5114452,essv5098112,essv5112802,essv5077297,essv5140119,essv5013874,essv5099128,essv5033468,essv5155874,essv5037818,essv5154471,essv5064436,essv5126326,essv5125520,essv5017607,essv5108865,essv5123897,essv5110474,essv5029877,essv5113808,essv5105860,essv5150396,essv5052317,essv5078386,essv5092274,essv5140348,essv5054461,essv5029186,essv5005848,essv5138090,essv5076774,essv5005817,essv5093840,essv5150968,essv5017028,essv5140976,essv5089191,essv5130069,essv5141605,essv5103132,essv5130668,essv5022354,essv5016838,essv5099619,essv5145886,essv5097005,essv5067140,essv5051414,essv5054121,essv5100885,essv5090661,essv5095135,essv5112345,essv5109249,essv5133066,essv5129143,essv5160940,essv5021944,essv5086813,essv5106406,essv5114128,essv5098584,essv5077498,essv5002992,essv5090011,essv5122186,essv5016129,essv5032650,essv5027455,essv5084843,essv5103504,essv5108440,essv5135515,essv5036035,essv5018676,essv5034984,essv5070138,essv5117511,essv5028104,essv5130850,essv5128953,essv5032129,essv5002860,essv5148469,essv5067870,essv5066098,essv5093188,essv5031055,essv5103685,essv5067068,essv5124395,essv5079580,essv5124060,essv5067805,essv5077045,essv5128117,essv5117508,essv5070146,essv5092996,essv5046639,essv5059209,essv5113779,essv5090363,essv5022864,essv5102383,essv5045996,essv5145694,essv5037136,essv5017511,essv5116762,essv5072722,essv5131271,essv5123279,essv5158929,essv5112592,essv5126910,essv5010952,essv5043272,essv5086789,essv5114384,essv5154305,essv5107713,essv5052970,essv5114557,essv5076710,essv5002123,essv5111643,essv5015757,essv5109615,essv5146466,essv5144877,essv5076159,essv5057551,essv5053289,essv5075806,essv5067682,essv5013452,essv5038276,essv5097149,essv5083854,essv5045075,essv5025666,essv5026069,essv5116436,essv5048552,essv5055298,essv5003830,essv5023790,essv5003178,essv5036359,essv5001995,essv5014366,essv5122772,essv5150509,essv5089497,essv5055032,essv5124142,essv5135224,essv5111630,essv5127774,essv5113955,essv5155686,essv5018938,essv5085291,essv5067515,essv5059473,essv5051545,essv5077129,essv5094197,essv5022724,essv5103092,essv5103666,essv5075329,essv5059762,essv5029282,essv5138314 M 1184 438 226 LOC650623 NA06984,NA06985,NA06986,NA06989,NA06993,NA06994,NA06995,NA07000,NA07022,NA07037,NA07056,NA07346,NA07347,NA07348,NA07357,NA10830,NA10835,NA10837,NA10838,NA10846,NA10850,NA10852,NA10856,NA10859,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11881,NA11882,NA11891,NA11918,NA11919,NA11992,NA11993,NA11994,NA11995,NA12003,NA12045,NA12056,NA12144,NA12154,NA12155,NA12234,NA12248,NA12264,NA12272,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12342,NA12343,NA12376,NA12383,NA12386,NA12399,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12748,NA12750,NA12751,NA12753,NA12760,NA12762,NA12763,NA12766,NA12775,NA12777,NA12802,NA12812,NA12813,NA12815,NA12817,NA12827,NA12829,NA12832,NA12842,NA12843,NA12864,NA12873,NA12875,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17969,NA17970,NA17972,NA17975,NA17976,NA17980,NA17982,NA17983,NA17987,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17999,NA18101,NA18105,NA18107,NA18108,NA18109,NA18112,NA18118,NA18120,NA18124,NA18125,NA18128,NA18129,NA18133,NA18134,NA18138,NA18139,NA18141,NA18143,NA18149,NA18151,NA18155,NA18156,NA18159,NA18160,NA18161,NA18162,NA18166,NA18485,NA18487,NA18488,NA18489,NA18497,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18507,NA18509,NA18510,NA18515,NA18519,NA18520,NA18526,NA18532,NA18542,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18559,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18579,NA18593,NA18594,NA18595,NA18596,NA18597,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18616,NA18620,NA18623,NA18624,NA18626,NA18627,NA18628,NA18632,NA18641,NA18645,NA18674,NA18685,NA18694,NA18696,NA18704,NA18747,NA18748,NA18757,NA18852,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18867,NA18868,NA18869,NA18871,NA18872,NA18873,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18930,NA18933,NA18934,NA18935,NA18945,NA18946,NA18952,NA18953,NA18954,NA18955,NA18959,NA18962,NA18965,NA18967,NA18968,NA18969,NA18973,NA18975,NA18977,NA18978,NA18979,NA18981,NA18990,NA18991,NA18993,NA18995,NA18997,NA18999,NA19002,NA19005,NA19007,NA19009,NA19027,NA19035,NA19038,NA19041,NA19046,NA19054,NA19055,NA19056,NA19058,NA19062,NA19063,NA19066,NA19068,NA19070,NA19072,NA19075,NA19076,NA19077,NA19078,NA19080,NA19085,NA19096,NA19097,NA19099,NA19101,NA19102,NA19103,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19121,NA19122,NA19127,NA19129,NA19130,NA19131,NA19132,NA19141,NA19144,NA19146,NA19147,NA19148,NA19152,NA19154,NA19159,NA19175,NA19176,NA19180,NA19181,NA19182,NA19183,NA19186,NA19191,NA19192,NA19194,NA19197,NA19200,NA19201,NA19206,NA19208,NA19213,NA19215,NA19222,NA19223,NA19224,NA19226,NA19235,NA19238,NA19239,NA19240,NA19247,NA19248,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19315,NA19316,NA19317,NA19318,NA19321,NA19327,NA19328,NA19332,NA19334,NA19347,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19376,NA19379,NA19380,NA19382,NA19383,NA19384,NA19390,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19431,NA19434,NA19435,NA19436,NA19438,NA19443,NA19445,NA19446,NA19451,NA19452,NA19457,NA19463,NA19466,NA19468,NA19472,NA19473,NA19625,NA19649,NA19653,NA19654,NA19656,NA19657,NA19659,NA19663,NA19665,NA19669,NA19670,NA19671,NA19676,NA19679,NA19680,NA19681,NA19682,NA19684,NA19686,NA19701,NA19703,NA19704,NA19708,NA19711,NA19713,NA19714,NA19720,NA19721,NA19722,NA19723,NA19725,NA19726,NA19747,NA19748,NA19750,NA19751,NA19755,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19780,NA19781,NA19783,NA19784,NA19794,NA19819,NA19828,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19917,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20128,NA20276,NA20281,NA20282,NA20284,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20301,NA20302,NA20322,NA20334,NA20337,NA20340,NA20341,NA20343,NA20344,NA20345,NA20349,NA20350,NA20356,NA20357,NA20359,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20516,NA20521,NA20522,NA20528,NA20529,NA20530,NA20535,NA20538,NA20539,NA20540,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20752,NA20754,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20796,NA20797,NA20799,NA20803,NA20806,NA20807,NA20808,NA20810,NA20812,NA20813,NA20819,NA20828,NA20845,NA20846,NA20847,NA20850,NA20851,NA20856,NA20858,NA20859,NA20869,NA20870,NA20874,NA20875,NA20876,NA20877,NA20884,NA20885,NA20889,NA20890,NA20891,NA20894,NA20899,NA20901,NA20902,NA20907,NA20908,NA20911,NA21086,NA21088,NA21091,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21104,NA21106,NA21108,NA21111,NA21112,NA21125,NA21142,NA21144,NA21297,NA21300,NA21301,NA21302,NA21309,NA21313,NA21318,NA21339,NA21344,NA21353,NA21357,NA21359,NA21361,NA21364,NA21370,NA21378,NA21379,NA21386,NA21387,NA21389,NA21390,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21415,NA21417,NA21418,NA21435,NA21439,NA21442,NA21448,NA21451,NA21454,NA21457,NA21473,NA21476,NA21477,NA21479,NA21486,NA21491,NA21493,NA21494,NA21512,NA21513,NA21514,NA21519,NA21520,NA21521,NA21522,NA21523,NA21526,NA21527,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21583,NA21597,NA21599,NA21608,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21683,NA21685,NA21686,NA21689,NA21693,NA21722,NA21733,NA21738,NA21784 esv21763 10 81447558 81449153 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9968 S 451 0 2 "" NA07037,NA18861 nsv8701 10 81449818 81451590 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19659,nssv18242,nssv19323,nssv21914 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12740,NA18517 esv25610 10 81450839 81600800 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10338,esv14932,esv16134 M 451 2 9 LOC642361 NA06985,NA12044,NA12156,NA12489,NA12749,NA12878,NA18508,NA18511,NA18523,NA19129,NA19190 nsv895757 10 81451702 81497813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586703,nssv1578522 M 6533 0 2 "" IS34803,IS37960 nsv895758 10 81451702 81504056 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522081 S 6533 1 0 "" SP52721 dgv774n71 10 81451702 81605970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895774,nsv895759,nsv895768,nsv895770,nsv895772,nsv895771 M 6533 0 9 LOC642361 IS31233,IS34742,IS37238,IS37450,IS37888,IS39316,IS40003,MS12743,SP56120 nsv8703 10 81460023 81496028 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19126,nssv20228,nssv17812,nssv24431,nssv19354,nssv21944,nssv17629,nssv18564 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA18517,NA18552,NA18572,NA18942,NA18975,NA19221 esv1011149 10 81462390 81491911 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586452 S 3 1 0 "" HuRef dgv775n71 10 81462715 81504056 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895762,nsv895760,nsv895761 M 6533 273 64 "" IS30218,IS30224,IS30226,IS30330,IS30336,IS30507,IS30542,IS30567,IS30725,IS30781,IS30826,IS30993,IS31098,IS31144,IS31147,IS31154,IS31317,IS31372,IS31651,IS31712,IS31825,IS32259,IS32329,IS32538,IS32680,IS32704,IS32761,IS32763,IS32777,IS32817,IS32819,IS33030,IS33218,IS33239,IS33263,IS33292,IS33403,IS33519,IS33795,IS33878,IS34262,IS34361,IS34439,IS34484,IS34491,IS34518,IS34562,IS35076,IS35100,IS35131,IS35240,IS35277,IS35336,IS35378,IS35411,IS35421,IS35506,IS35519,IS35561,IS35568,IS35877,IS35895,IS36086,IS36196,IS36312,IS36320,IS36519,IS36550,IS36559,IS36612,IS36772,IS37346,IS37404,IS37446,IS37498,IS37605,IS37744,IS37861,IS38009,IS38054,IS38111,IS38153,IS38202,IS38208,IS38219,IS38232,IS38241,IS38322,IS38333,IS38336,IS38400,IS38440,IS38472,IS38477,IS38600,IS38694,IS38995,IS39088,IS39116,IS39194,IS39205,IS39330,IS39336,IS39341,IS39365,IS39369,IS39394,IS39420,IS39516,IS39783,IS39838,IS40012,IS40017,IS40145,IS40169,IS40186,IS40192,IS40223,IS40272,IS40309,IS40310,IS40333,IS40382,IS40387,IS40415,IS40490,IS40520,IS40544,IS40618,IS40646,IS40660,IS40673,IS40678,IS40728,IS40735,IS40752,IS40759,IS40809,IS40838,IS40872,IS40874,IS40879,IS40950,IS40989,IS41042,IS41391,IS41452,IS41565,IS41780,IS41806,IS41832,IS41847,IS41895,IS41906,MS10324,MS10444,MS10731,MS10973,MS11064,MS11159,MS11165,MS11199,MS11435,MS11505,MS12050,MS12109,MS12685,MS12724,MS12787,MS12791,MS12812,MS12822,MS12946,MS13025,MS13240,MS13360,MS13408,MS13455,MS13774,MS14266,MS14324,MS14361,MS14488,MS14518,MS14639,MS14683,MS14714,MS14942,MS15060,MS15514,MS15573,MS15601,MS15642,MS15714,MS15737,MS15826,MS15838,MS15859,MS15885,MS15921,MS16047,MS16108,MS16188,MS16208,MS16393,MS16783,MS16797,MS16837,MS16851,MS16921,MS17126,MS17204,MS17389,MS17680,MS17915,MS17986,MS18011,MS18255,MS18290,MS18376,MS18406,MS18431,MS18436,MS18510,MS18672,MS18694,MS18821,MS18837,MS18873,MS19119,MS19420,MS19466,MS19638,MS19746,MS20288,MS20655,MS20698,MS21891,MS21992,MS22022,MS22453,MS22644,MS22809,MS22998,MS23791,MS23958,MS24015,MS24350,MS24360,MS24400,MS24419,MS24437,MS24719,MS24971,MS25112,MS25227,MS25259,MS25294,MS25327,MS25357,MS25369,MS25429,MS25509,MS25511,MS25648,MS25728,MS25842,MS25887,MS25888,MS26050,SP50119,SP50171,SP50535,SP50767,SP50772,SP50791,SP50802,SP50836,SP50942,SP51087,SP51102,SP51115,SP51178,SP51200,SP51218,SP51219,SP51388,SP51402,SP52297,SP52393,SP52440,SP52456,SP52552,SP52562,SP52700,SP53131,SP53250,SP53402,SP53471,SP54023,SP54047,SP54057,SP54058,SP54393,SP54478,SP54626,SP54979,SP55200,SP55407,SP55456,SP55513,SP55748,SP56003,SP56505,SP56574,SP56676,SP56750,SP56818,SP56878,SP57020,SP57042,SP57062,SP57299,SP57640,SP57754,SP58161,SP58306,SP58553,SP80909,SP80992,SP81059,SP81105,SP81127,SP81182,SP81412,SP81417,SP81437 dgv776n71 10 81462715 81515190 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895764,nsv895763 M 6533 0 3 "" IS32666,IS33850,IS40665 dgv777n71 10 81462715 81543778 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895766,nsv895765 M 6533 0 2 "" MS13168,MS14093 dgv778n71 10 81462715 81567594 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895767,nsv895769 M 6533 2 0 "" IS38525,IS39832 nsv442587 10 81475459 81486935 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421531 10 81475459 81489917 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5093234,essv5053926,essv5046710,essv5158477,essv5005325,essv5109734,essv5148406,essv5149176,essv5058228,essv5126613,essv5070351,essv5151680,essv5140380,essv5150779,essv5083580,essv5040491,essv5137677,essv5150889,essv5021318,essv5124407,essv5003689,essv5015489,essv5058421,essv5072786,essv5051798,essv5132248,essv5033834,essv5094646,essv5017275,essv5108785,essv5156147,essv5076968,essv5159951,essv5063942,essv5096566,essv5090120,essv5058781,essv5080252,essv5006427,essv5123598,essv5135446,essv5008811,essv5085247,essv5091003,essv5103592,essv5072632,essv5144996,essv5155728,essv5131578,essv5127116,essv5084578,essv5095654,essv5089579,essv5125487,essv5014019,essv5010497,essv5108435,essv5138670,essv5088873,essv5067818,essv5052825,essv5108860,essv5110568,essv5084220,essv5137783,essv5048330,essv5007459,essv5053129,essv5019873,essv5099054,essv5128607,essv5038430,essv5028299,essv5094416,essv5037743,essv5061870,essv5092354,essv5088309,essv5113787,essv5038703,essv5061225,essv5118171,essv5093589,essv5003034,essv5049223,essv5040696,essv5151019,essv5087171,essv5036794,essv5042799,essv5018972,essv5052055,essv5154160,essv5104240,essv5086501,essv5130093,essv5003341,essv5060343,essv5065694,essv5145176,essv5091378,essv5052436,essv5120747,essv5125465,essv5152113,essv5059810,essv5053548,essv5070083,essv5084540,essv5029023,essv5061659,essv5050794,essv5088340,essv5153555,essv5077788,essv5013298,essv5145825,essv5045240,essv5089410,essv5110814,essv5133358,essv5008712,essv5045623,essv5016138,essv5130383,essv5030299,essv5084399,essv5052145,essv5094066,essv5082868,essv5070029,essv5071821,essv5138651,essv5107169,essv5158129,essv5019082,essv5076987,essv5043542,essv5155982,essv5056588,essv5083285,essv5045042,essv5070604,essv5104102,essv5129093,essv5085140,essv5015283,essv5096487,essv5067948,essv5077736,essv5111723,essv5105687,essv5041517,essv5149628,essv5042404,essv5083098,essv5075819,essv5020770,essv5110317,essv5103326,essv5148866,essv5121267,essv5043117,essv5125611,essv5017949,essv5145223,essv5043587,essv5015207,essv5143382,essv5101438,essv5028152,essv5044638,essv5123359,essv5125737,essv5089629,essv5100259,essv5141411,essv5089990,essv5151889,essv5095179,essv5098700,essv5020800,essv5033164,essv5124087,essv5058918,essv5133850,essv5117287,essv5019739,essv5014520,essv5144952,essv5131708,essv5158355,essv5038959,essv5140827,essv5076850,essv5069365,essv5059291,essv5102421,essv5109495,essv5130860,essv5044567,essv5103775,essv5091866,essv5058012,essv5129653,essv5108170,essv5014328,essv5117588,essv5141458,essv5110736,essv5079485,essv5149594,essv5097152,essv5158363,essv5062078,essv5114158,essv5105881,essv5083555,essv5019132,essv5131929,essv5060534,essv5004920,essv5112131,essv5118551,essv5063235,essv5135145,essv5081727,essv5010331,essv5114065,essv5138704,essv5018201,essv5140299,essv5151638,essv5035659,essv5096311,essv5122306,essv5031732,essv5062580,essv5094803,essv5151084,essv5045999,essv5057993,essv5030707,essv5126671,essv5003142,essv5020222,essv5109839,essv5112271,essv5108559,essv5157485,essv5071934,essv5003501,essv5094482,essv5110567,essv5060494,essv5052683,essv5143798,essv5025403,essv5086009,essv5158805,essv5051396,essv5020069,essv5120688,essv5025382,essv5073808,essv5037161,essv5091018,essv5148667,essv5086566,essv5106371,essv5036243,essv5122249,essv5093150,essv5129443,essv5027144,essv5024726,essv5131881,essv5005588,essv5060829,essv5075318,essv5064455,essv5111497,essv5143404,essv5065426,essv5057356,essv5087141,essv5067769,essv5042548,essv5082233,essv5154239,essv5079284,essv5139254,essv5103542,essv5118963,essv5158581,essv5061118,essv5141470,essv5090683,essv5157598,essv5133434,essv5099364,essv5076438,essv5043913,essv5004226,essv5011933,essv5135627,essv5004415,essv5057197,essv5045639,essv5142628,essv5029393,essv5054449,essv5150630,essv5101194,essv5086033,essv5006258,essv5153813,essv5099063,essv5062107,essv5025451,essv5050769,essv5039339,essv5054552,essv5070725,essv5036282,essv5124610,essv5129162,essv5064271,essv5146881,essv5099263,essv5124499,essv5044828,essv5097123,essv5118473,essv5085901,essv5036931,essv5100836,essv5023378,essv5037902,essv5113242,essv5056654,essv5092685,essv5054323,essv5059750,essv5081054,essv5124375,essv5116815,essv5082492,essv5051428,essv5157537,essv5067066,essv5118752,essv5116108,essv5007776,essv5129414,essv5124232,essv5132304,essv5154208,essv5150003,essv5043127,essv5125359,essv5123833,essv5122257,essv5150534,essv5054854,essv5159818,essv5067772,essv5051897,essv5150765,essv5090545,essv5109099,essv5127378,essv5038800,essv5127474,essv5062559,essv5030368,essv5010872,essv5005589,essv5003005,essv5158459,essv5136029,essv5086060,essv5142092,essv5084334,essv5043075,essv5119729,essv5044561,essv5021222,essv5094234,essv5152675,essv5056559,essv5013952,essv5004704,essv5140929,essv5052944,essv5012090,essv5004314,essv5158718,essv5004123,essv5102610,essv5049996,essv5037563,essv5098736,essv5074543,essv5135614,essv5029774,essv5121762,essv5094838,essv5128871,essv5158639,essv5020725,essv5098965,essv5055248,essv5151456,essv5096078,essv5134552,essv5133912,essv5081577,essv5115818,essv5148585,essv5005902,essv5157509,essv5069618,essv5088103,essv5149811,essv5048103,essv5028771,essv5040403,essv5014530,essv5044913,essv5151923,essv5047204,essv5024062,essv5043629,essv5081209,essv5031959,essv5092410,essv5119158,essv5067841,essv5134266,essv5129641,essv5079076,essv5091540,essv5141025,essv5017593,essv5007488,essv5044046,essv5036697,essv5106205,essv5047985,essv5124030,essv5062483,essv5050607,essv5123002,essv5047225,essv5048553,essv5108724,essv5009467,essv5096232,essv5099988,essv5091093,essv5149625,essv5137948,essv5091998,essv5116341,essv5047866,essv5087125,essv5109136,essv5061401,essv5063086,essv5100034,essv5144881,essv5156973,essv5128793,essv5022341,essv5018771,essv5109561,essv5070918,essv5016730,essv5032892,essv5023182,essv5059000,essv5159567,essv5063776,essv5037405,essv5072796,essv5025092,essv5160080,essv5133053,essv5115190,essv5005811,essv5009401,essv5133660,essv5029334,essv5070352,essv5141427,essv5150111,essv5066620,essv5115372,essv5117282,essv5155654,essv5110735,essv5098754,essv5008756,essv5005186,essv5012235,essv5115488,essv5081036,essv5067594,essv5079194,essv5094368,essv5018363,essv5068057,essv5150676,essv5049668,essv5154071,essv5156444,essv5103267,essv5084533,essv5137654,essv5126550,essv5101119,essv5102662,essv5118872,essv5057866,essv5113567,essv5090032,essv5083486,essv5140181,essv5101606,essv5133684,essv5095862,essv5156939,essv5098425,essv5119987,essv5032429,essv5100913,essv5004423,essv5102733,essv5119084,essv5027090,essv5069773,essv5125693,essv5152409,essv5130232,essv5095929,essv5029135,essv5008520,essv5055006,essv5006344,essv5104922,essv5127911,essv5066301,essv5068168,essv5160778,essv5035171,essv5160022,essv5138033,essv5043869,essv5053271,essv5092874,essv5119738,essv5077533,essv5051723,essv5105695,essv5102389,essv5060304,essv5155998,essv5044286,essv5143340,essv5052076,essv5156117,essv5116965,essv5159954,essv5048571,essv5110530,essv5021677,essv5009992,essv5135151,essv5129419,essv5149138,essv5026532,essv5029148,essv5111353,essv5151085,essv5160605,essv5042734,essv5045452,essv5084999,essv5081340,essv5084134,essv5102017,essv5108938,essv5136445,essv5086523,essv5060443,essv5067673,essv5083351,essv5073867,essv5114604,essv5119218,essv5026156,essv5134961,essv5091551,essv5085893,essv5030079,essv5084327,essv5104669,essv5088296,essv5033596,essv5111194,essv5033204,essv5109326,essv5040327,essv5054494,essv5023949,essv5047412,essv5094723,essv5029386,essv5022227,essv5026121,essv5113718,essv5144638,essv5092414,essv5148418,essv5029025,essv5155429,essv5155203,essv5135871,essv5090931,essv5119124,essv5041734,essv5105432,essv5116700,essv5117481,essv5131949,essv5159869,essv5017950,essv5104713,essv5053523,essv5083533,essv5103661,essv5020798,essv5090160,essv5037400,essv5078055,essv5072283,essv5038354,essv5147887,essv5124344,essv5031556,essv5018528,essv5048657,essv5138812,essv5101275,essv5042502,essv5102253,essv5002869,essv5066254,essv5039005,essv5098847,essv5005032,essv5054681,essv5040505,essv5111463,essv5149634,essv5112266,essv5149983,essv5073982,essv5124940,essv5020446,essv5136593,essv5054210,essv5015341,essv5149764,essv5157176,essv5079436,essv5091153,essv5074501,essv5138208,essv5041765,essv5112863,essv5061350,essv5135979,essv5107051,essv5007568,essv5141590,essv5159800,essv5068957,essv5092803,essv5092341,essv5022512,essv5005436,essv5095471,essv5010918,essv5019083,essv5059336,essv5096407,essv5040844,essv5042463,essv5109389,essv5098348,essv5058899,essv5073722,essv5119890,essv5039950,essv5119439,essv5038643,essv5128092,essv5141781,essv5083394,essv5015859,essv5021139,essv5016325,essv5119002,essv5068581,essv5146021,essv5029143,essv5097078,essv5052038,essv5104429,essv5093255,essv5147988,essv5026676,essv5097792,essv5147741,essv5041434,essv5138496,essv5126256,essv5023946,essv5127772,essv5082590,essv5153111,essv5081104,essv5139629,essv5040547,essv5160852,essv5120934,essv5046661,essv5031709 M 1184 0 740 "" NA06985,NA06991,NA06994,NA06997,NA07014,NA07029,NA07031,NA07045,NA07051,NA07055,NA07345,NA07347,NA07349,NA07435,NA10831,NA10836,NA10837,NA10839,NA10840,NA10843,NA10845,NA10847,NA10853,NA10854,NA10855,NA10861,NA10864,NA10865,NA11832,NA11840,NA11843,NA11892,NA11893,NA11894,NA11917,NA11920,NA11930,NA11931,NA11994,NA12005,NA12006,NA12043,NA12044,NA12057,NA12145,NA12146,NA12155,NA12156,NA12239,NA12249,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12341,NA12344,NA12347,NA12348,NA12375,NA12376,NA12400,NA12489,NA12546,NA12740,NA12749,NA12751,NA12752,NA12761,NA12767,NA12776,NA12778,NA12801,NA12813,NA12814,NA12818,NA12828,NA12830,NA12865,NA12872,NA12874,NA12877,NA12878,NA12889,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17989,NA17990,NA17993,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18498,NA18506,NA18508,NA18511,NA18515,NA18516,NA18517,NA18518,NA18524,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18594,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18861,NA18862,NA18863,NA18870,NA18874,NA18875,NA18924,NA18925,NA18939,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18960,NA18961,NA18963,NA18964,NA18966,NA18967,NA18969,NA18970,NA18971,NA18972,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18994,NA18995,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19009,NA19010,NA19027,NA19028,NA19031,NA19036,NA19044,NA19054,NA19055,NA19056,NA19057,NA19059,NA19060,NA19062,NA19064,NA19065,NA19067,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19081,NA19083,NA19084,NA19087,NA19088,NA19093,NA19094,NA19095,NA19098,NA19107,NA19108,NA19109,NA19118,NA19119,NA19120,NA19122,NA19123,NA19128,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19178,NA19179,NA19184,NA19189,NA19190,NA19193,NA19199,NA19201,NA19202,NA19203,NA19204,NA19207,NA19209,NA19210,NA19211,NA19214,NA19221,NA19223,NA19225,NA19236,NA19237,NA19247,NA19249,NA19256,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19319,NA19324,NA19328,NA19346,NA19350,NA19352,NA19375,NA19376,NA19377,NA19381,NA19385,NA19391,NA19393,NA19403,NA19430,NA19437,NA19439,NA19440,NA19443,NA19444,NA19446,NA19448,NA19449,NA19455,NA19456,NA19462,NA19463,NA19466,NA19467,NA19469,NA19470,NA19471,NA19474,NA19650,NA19651,NA19652,NA19654,NA19656,NA19658,NA19660,NA19661,NA19662,NA19664,NA19675,NA19677,NA19678,NA19679,NA19680,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19702,NA19704,NA19705,NA19712,NA19716,NA19718,NA19719,NA19720,NA19721,NA19723,NA19724,NA19725,NA19727,NA19746,NA19749,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19900,NA19909,NA19914,NA19915,NA19916,NA19982,NA20127,NA20129,NA20276,NA20277,NA20279,NA20287,NA20288,NA20300,NA20317,NA20319,NA20332,NA20333,NA20335,NA20336,NA20342,NA20346,NA20347,NA20348,NA20357,NA20358,NA20359,NA20360,NA20363,NA20502,NA20506,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20524,NA20525,NA20527,NA20528,NA20531,NA20534,NA20538,NA20541,NA20542,NA20589,NA20753,NA20755,NA20756,NA20757,NA20759,NA20760,NA20765,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20775,NA20778,NA20787,NA20792,NA20795,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20809,NA20811,NA20813,NA20815,NA20816,NA20818,NA20826,NA20849,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20879,NA20882,NA20883,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20909,NA20910,NA20911,NA21086,NA21089,NA21090,NA21092,NA21094,NA21098,NA21099,NA21100,NA21101,NA21103,NA21105,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21320,NA21333,NA21336,NA21339,NA21352,NA21355,NA21356,NA21360,NA21362,NA21363,NA21365,NA21366,NA21367,NA21368,NA21371,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21388,NA21391,NA21403,NA21404,NA21408,NA21414,NA21415,NA21420,NA21421,NA21424,NA21425,NA21434,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21491,NA21509,NA21510,NA21517,NA21524,NA21525,NA21528,NA21580,NA21582,NA21587,NA21596,NA21599,NA21600,NA21601,NA21611,NA21631,NA21650,NA21682,NA21685,NA21716,NA21717,NA21718,NA21719,NA21723,NA21739,NA21740,NA21741,NA21768,NA21776,NA21825,NA21826 nsv895773 10 81478475 81497813 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580739,nssv1534082,nssv1545086,nssv1551099,nssv1590184 M 6533 3 2 "" IS35445,IS38465,MS11454,MS16647,MS18779 nsv514576 10 81484488 81485648 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627096 S 1414 0 0 "" dgv779n71 10 81492542 81588866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895775,nsv895776 M 6533 2 0 LOC642361 IS38491,SP58090 nsv895777 10 81497813 81605970 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572882,nssv1540677,nssv1558344 M 6533 2 1 LOC642361 IS33192,MS14953,MS23227 dgv780n71 10 81505620 81567594 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895778,nsv895780 M 6533 0 3 "" IS39438,IS41806,SP57193 nsv895779 10 81515190 81552017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567237 S 6533 0 1 "" IS31054 dgv781n71 10 81515190 81588866 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895786,nsv895781,nsv895782,nsv895787 M 6533 7 13 LOC642361 IS30143,IS31081,IS33460,IS38162,IS38457,IS38490,IS38634,IS39408,IS40588,IS41034,MS10686,MS11326,MS13511,MS16211,MS20671,MS21563,MS21709,MS23031,MS25025,SP54268 dgv782n71 10 81515190 81605970 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895796,nsv895793,nsv895800,nsv895788,nsv895783 M 6533 15 23 LOC642361 IS30224,IS34642,IS35111,IS35180,IS38333,IS38486,IS40440,IS40739,MS10739,MS10778,MS11058,MS14644,MS15269,MS15771,MS15780,MS17380,MS17751,MS18672,MS21722,MS21803,MS22022,MS22321,SP50038,SP50882,SP52341,SP52518,SP52553,SP52588,SP53293,SP54905,SP55100,SP55537,SP55571,SP55952,SP56238,SP56373,SP56889,SP81347 nsv895784 10 81522610 81545732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590631 S 6533 0 1 "" IS38541 nsv895785 10 81522610 81564418 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586239,nssv1555934,nssv1593083,nssv1590867,nssv1573002,nssv1552737 M 6533 1 5 "" IS33218,IS37702,IS38598,IS39354,MS19599,MS21717 nsv8704 10 81531733 81533312 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19070 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 dgv783n71 10 81533351 81567594 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895789,nsv895790 M 6533 0 4 "" IS32819,IS33200,IS33472,IS35336 dgv784n71 10 81533351 81588866 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv895791,nsv895792,nsv895798 M 6533 7 8 LOC642361 IS36153,IS41603,MS10378,MS12606,MS12859,MS13206,MS16447,MS16558,MS17321,MS18540,MS20355,MS23412,MS23451,SP54577,SP56794 nsv8705 10 81534707 81589493 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19619,nssv19353,nssv19689,nssv22017,nssv20107,nssv18272 M 31 3 3 Samples from several populations that are part of the HapMap project. LOC642361 NA07029,NA07048,NA11830,NA12740,NA19132,NA19173 dgv785n71 10 81536468 81588866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895794,nsv895795,nsv895797 M 6533 4 0 LOC642361 MS13281,MS24672,SP50532,SP51216 nsv895799 10 81540003 81588866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552172,nssv1534888 M 6533 0 2 LOC642361 MS11760,MS19276 nsv442193 10 81552167 81587759 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC642361 nsv895801 10 81567594 81986951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505080 S 6533 1 0 ANXA11,C10orf57,LOC100288974,LOC219347,LOC439990,LOC642361,MBL1P,PLAC9,SFTPD SP53041 nsv895802 10 81605970 81871934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591206 S 6533 1 0 C10orf57,LOC100288974,LOC219347,MBL1P,SFTPD IS38651 nsv8706 10 81621713 81626341 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19817,nssv21974 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA18563 esv33075 10 81631003 81644371 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98157,essv95595 M 51 0 2 "" 21772,21841 nsv519730 10 81631178 81650335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697016 S 2026 0 1 "" nsv467391 10 81631178 81729900 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542698 S 1557 1 0 LOC100288974,MBL1P,SFTPD 1782681287_A esv995246 10 81661786 81661836 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581067 S 3 0 1 LOC100288974 HuRef nsv8707 10 81662046 81669858 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21552,nssv19847,nssv17659,nssv18594,nssv20137,nssv21631,nssv22933,nssv17441,nssv21223,nssv19315,nssv19384,nssv17705,nssv17530,nssv22047 M 31 0 14 Samples from several populations that are part of the HapMap project. LOC100288974 NA10839,NA10847,NA11830,NA12802,NA12872,NA18502,NA18504,NA18563,NA18572,NA18860,NA18975,NA18980,NA19132,NA19240 esv24791 10 81662220 81669481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16559 S 451 0 3 LOC100288974 NA12878,NA18861,NA19147 nsv831922 10 81670761 81824435 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448620 S 95 0 1 LOC100288974,LOC219347,MBL1P,SFTPD esv996624 10 81685817 81685971 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572275 S 3 0 1 "" HuRef nsv25141 10 81685817 81685971 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43719 M 24 "" nsv520754 10 81705718 81729900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675017,nssv685791,nssv703954 M 2026 0 3 "" nsv528920 10 81738688 81784143 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705608 S 2026 1 0 "" nsv525757 10 81757368 81784143 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701925 S 2026 1 0 "" nsv8708 10 81770662 81784048 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19383 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 essv24107 10 81772720 81779567 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07048 esv26623 10 81774327 81782225 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10530 S 451 0 1 "" NA11931 esv1590670 10 81775676 81775732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643992 S 2 0 1 "" HuRef esv2548808 10 81775995 81792996 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230566 S 1 0 1 "" NA18507 esv33976 10 81778421 81779313 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97954 S 51 1 0 "" 21837 esv3366 10 81778807 81794684 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25807 S 1 0 1 Single Asian sample YH "" YH esv7321 10 81778866 81794613 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29762 S 1 0 1 "" SJK nsv514577 10 81781392 81782456 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627098 S 1414 0 0 "" esv2280101 10 81783560 81793062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559726 S 1 0 1 "" NA18507 esv275122 10 81818390 81822447 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585906,essv2585129 M 1250 1 1 LOC219347 nsv895803 10 81825316 81888175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581721 S 6533 0 1 C10orf57,LOC219347,PLAC9 IS35701 nsv819306 10 81833410 81853064 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418680 S 2 0 1 C10orf57 AK1 esv989822 10 81894591 81895052 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587050 S 3 0 1 PLAC9 HuRef nsv527602 10 82044853 82052641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704064 S 2026 0 1 "" nsv520763 10 82052641 82098590 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697597 S 2026 1 0 DYDC1 nsv831923 10 82072930 82259691 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448621 S 95 0 1 C10orf58,DYDC1,DYDC2,TSPAN14 nsv825479 10 82106494 82107005 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430008 S 31 1 0 DYDC2 AK14 dgv47n21 10 82126644 82149519 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525264,nsv519314 M 2026 4 0 "" nsv831924 10 82145598 82323175 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448622 S 95 0 1 C10orf58,SH2D4B,TSPAN14 nsv524518 10 82149519 82224567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700463 S 2026 0 1 C10orf58,TSPAN14 nsv469837 10 82156730 82305270 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649858 M 265 0 16 Samples from several populations that are part of the HapMap project. C10orf58,SH2D4B,TSPAN14 esv28286 10 82203655 82204550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19918 S 451 0 2 TSPAN14 NA07037,NA07045 esv2460472 10 82231363 82233133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200450 S 1 0 1 TSPAN14 NA18507 esv6437 10 82258415 82258517 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28878 S 1 1 0 TSPAN14 SJK nsv7354 10 82263581 82308802 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8822 S 9 0 1 SH2D4B,TSPAN14 NA12156 nsv470967 10 82272731 82310973 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544970 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SH2D4B HGDP00298 esv1010104 10 82375320 82379791 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565283 S 3 1 0 SH2D4B HuRef esv269663 10 82377352 82379031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511454,essv2511197,essv2495232,essv2512438,essv2512239,essv2513189,essv2503812,essv2512946,essv2500599,essv2507655,essv2512760,essv2508129,essv2501613,essv2509283,essv2511620,essv2497437,essv2495970,essv2493552,essv2503952,essv2511539 M 157 20 0 Samples from several populations that are part of the HapMap project. SH2D4B NA07037,NA07346,NA11920,NA11931,NA11992,NA12043,NA12155,NA12249,NA12761,NA18547,NA18571,NA18576,NA18577,NA18579,NA18608,NA18909,NA18940,NA18959,NA18961,NA19137 nsv469860 10 82383413 82539916 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649881 M 265 18 14 Samples from several populations that are part of the HapMap project. SH2D4B esv2750975 10 82463000 82558664 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986147,essv6988521,essv6982332,essv6982333 M 771 1 0 "" BEC_424 nsv8709 10 82466426 82478541 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19455 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv825480 10 82466862 82472125 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439854 S 31 0 1 "" NA18537 nsv7365 10 82500792 82534694 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8823 S 9 1 0 "" NA12156 esv22056 10 82514367 82518728 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12295 S 451 1 0 "" NA12239 nsv8710 10 82607171 82850489 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20167 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv523640 10 82613965 82617594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699441 S 2026 0 1 "" nsv895804 10 82629407 82660593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518541 S 6533 0 1 "" SP57672 nsv825481 10 82672661 82675581 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421944 S 31 0 1 "" NA18997 nsv518276 10 82694875 82696097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694221 S 2026 1 0 "" esv2478708 10 82739546 82743174 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388337 S 1 0 1 "" NA18507 esv1916562 10 82740089 82742816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995679 S 1 0 1 "" NA18507 esv8856 10 82740270 82742660 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31297 S 1 0 1 "" SJK dgv48n21 10 82760687 82762097 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521679,nsv528042 M 2026 0 2 "" nsv895805 10 82762097 82858129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556749 S 6533 0 1 "" MS22146 esv268519 10 82856045 82856181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496175,essv2493681,essv2500900,essv2507352,essv2501269,essv2498141 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18517,NA18856,NA18912,NA19093,NA19240 esv273808 10 82856087 82856428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581236 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv517526 10 82868468 82904009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658554,nssv670382,nssv673631,nssv663536,nssv666091,nssv661347,nssv672853,nssv673663,nssv691691,nssv653090,nssv661098,nssv670931,nssv667045,nssv663144,nssv680446,nssv686973,nssv674801,nssv678313,nssv668485,nssv673019,nssv683703,nssv672401,nssv663038,nssv689728,nssv658450,nssv695839,nssv678565,nssv681353,nssv681428,nssv652276,nssv691180,nssv675690,nssv687573,nssv670550,nssv678983,nssv669637,nssv681475,nssv674115,nssv680183,nssv670979,nssv676140,nssv684004,nssv652739,nssv662483,nssv677050,nssv688569,nssv683428,nssv669827,nssv683987,nssv680641,nssv662242,nssv669466,nssv690544,nssv675591,nssv682920,nssv668893,nssv654603,nssv660117,nssv662959 M 2026 0 59 "" dgv114n27 10 82869699 82875955 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467397,nsv467393,nsv467392,nsv467396 M 1557 0 4 "" 1780862160_A,HGDP00003,HGDP00027,HGDP00619 nsv818775 10 82869699 82875955 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418013 S 112 0 1 "" NA07345 esv2422032 10 82869699 82879763 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067644,essv5063397,essv5039674,essv5093496,essv5123306,essv5074745,essv5002713,essv5001915,essv5126406,essv5094046,essv5159629,essv5091533,essv5142581,essv5005510,essv5123678,essv5033087,essv5021909,essv5053149,essv5040984,essv5077493,essv5048247,essv5101687,essv5044878,essv5015201,essv5088651,essv5057290,essv5037828,essv5031716,essv5143874,essv5028572,essv5017123,essv5051344,essv5007080 M 1184 0 33 "" NA07022,NA07345,NA10839,NA12005,NA12348,NA19651,NA19653,NA19750,NA19795,NA19796,NA20529,NA20760,NA20809,NA20819,NA20851,NA20890,NA20897,NA20899,NA20908,NA20911,NA21088,NA21097,NA21102,NA21106,NA21117,NA21403,NA21404,NA21476,NA21477,NA21489,NA21524,NA21620,NA21716 nsv518030 10 82869699 82931735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695440 S 2026 0 1 "" nsv442195 10 82871310 82879763 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv895806 10 82894289 82974412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551797 S 6533 0 1 "" MS18978 esv2176157 10 82894476 82895063 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777455 S 1 0 1 "" NA18507 esv1003770 10 82894637 82894889 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578780 S 3 0 1 "" HuRef esv1521498 10 82894637 82894890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276683 S 2 0 1 "" HuRef nsv526447 10 82931735 82935530 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702750 S 2026 0 1 "" nsv7376 10 82946002 82981023 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv953 S 9 1 0 "" NA19240 esv997010 10 82962090 82962178 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563873 S 3 1 0 "" HuRef esv1529007 10 82962181 82962181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050223 S 2 1 0 "" HuRef nsv524565 10 82969046 82972161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700520 S 2026 0 1 "" esv269879 10 83032713 83032798 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516782,essv2519183,essv2515355,essv2515586,essv2517968,essv2517369 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA12249,NA12815,NA12872,NA18970 nsv825482 10 83107003 83112295 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421945 S 31 0 1 "" NA18997 nsv527269 10 83109190 83124414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703678 S 2026 0 1 "" nsv512171 10 83119630 83121165 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624736 S 1 0 1 "" 1 esv1454035 10 83120298 83120671 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629411 S 2 0 1 "" HuRef esv1008492 10 83121801 83129159 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565416 S 3 0 1 "" HuRef nsv7387 10 83172398 83207113 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2847 S 9 1 0 "" NA18555 nsv527089 10 83174754 83178748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703468 S 2026 0 1 "" nsv895807 10 83311099 83499535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581412 S 6533 0 1 "" IS35572 esv272918 10 83323053 83323356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580416,essv2579897,essv2580631,essv2579168 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239 esv268640 10 83323053 83323390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558220,essv2525296,essv2558377,essv2578034,essv2552414,essv2569267,essv2550094,essv2558769,essv2527135,essv2522234,essv2563782,essv2553412,essv2569016,essv2543684,essv2527928,essv2574890,essv2530305,essv2568627,essv2546107,essv2551610,essv2536128 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA12156,NA12750,NA12761,NA18502,NA18508,NA18511,NA18516,NA18522,NA18571,NA18603,NA18605,NA18861,NA18870,NA18907,NA19138,NA19141,NA19147,NA19239,NA19257 dgv115n27 10 83428407 83509687 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467399,nsv467400 M 1557 0 2 "" 1780862042_A,1782681093_A nsv523010 10 83469708 83472879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698684 S 2026 0 1 "" nsv831925 10 83521211 83688587 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448623 S 95 1 0 NRG3 nsv467401 10 83552892 83578691 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542707 S 1557 0 1 "" NINDS_241 esv22050 10 83624099 83625195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11870 S 451 0 2 NRG3 NA07037,NA07045 nsv507565 10 83676567 83682567 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620637 S 4 1 0 NRG3 NA15510 nsv825483 10 83766568 83770073 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436868 S 31 0 1 NRG3 NA18542 nsv831927 10 83800809 83947617 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448624 S 95 1 0 NRG3 nsv7398 10 83828465 83861741 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8824 S 9 1 0 NRG3 NA12156 nsv527301 10 83849355 83855744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703719 S 2026 0 1 NRG3 dgv7n50 10 83871693 83879088 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511453,nsv512172 M 1 0 1 NRG3 1 esv28936 10 83873584 83879050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20924 S 451 0 1 NRG3 NA11993 esv33611 10 83873764 83878999 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98174,essv94267 M 51 0 2 NRG3 21772,22394 esv2422053 10 83874640 83878647 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121953,essv5160158,essv5151987,essv5109965,essv5141866,essv5140245,essv5062960,essv5125154,essv5111627,essv5152546,essv5100662,essv5121583,essv5100996,essv5074312,essv5045831,essv5089752 M 1184 0 16 NRG3 NA11993,NA12234,NA20785,NA20801,NA20803,NA21357,NA21370,NA21479,NA21522,NA21523,NA21525,NA21528,NA21582,NA21587,NA21733,NA21740 nsv442196 10 83874641 83878647 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NRG3 nsv516182 10 83874874 83878323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670796,nssv682749,nssv671805,nssv670531,nssv671166,nssv676569,nssv656086,nssv672697,nssv666666,nssv690545,nssv688390,nssv676542,nssv690596 M 2026 0 13 NRG3 nsv514578 10 83875504 83878456 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628065 S 1414 0 1 NRG3 esv1787554 10 83882238 83882238 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702777 S 2 1 0 NRG3 HuRef nsv895808 10 83897909 84030660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504659 S 6533 0 1 NRG3 SP52700 nsv518939 10 83906404 83911720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696406 S 2026 0 1 NRG3 dgv786n71 10 83974259 84081011 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895810,nsv895809 M 6533 2 0 NRG3 SP55265,SP81437 nsv516167 10 83983384 84042202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666584,nssv692576 M 2026 0 2 NRG3 dgv787n71 10 84007026 84109812 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895812,nsv895811 M 6533 0 3 NRG3 SP51355,SP54581,SP80986 nsv7410 10 84015007 84046192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10769 S 9 1 0 NRG3 NA18956 dgv307e1 10 84034612 84048907 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1179,esv1051,essv5643 M 271 0 0 NRG3 NA18579 esv2304405 10 84060592 84061035 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672608 S 1 0 1 NRG3 NA18507 nsv24927 10 84060686 84060766 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43505 M 24 NRG3 nsv517782 10 84113905 84127853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676290,nssv653237 M 2026 0 2 NRG3 esv2427309 10 84116250 84120807 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219602 S 1 0 1 NRG3 NA18507 esv2526609 10 84117070 84120930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199647 S 1 0 1 NRG3 NA18507 nsv436117 10 84117583 84124612 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466609 S 2 0 1 Samples from several populations that are part of the HapMap project. NRG3 NA18505 esv1981738 10 84117618 84120527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612010 S 1 0 1 NRG3 NA18507 dgv165n67 10 84117836 84119625 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825485,nsv825484 M 31 0 12 NRG3 AK12,AK20,NA18537,NA18564,NA18566,NA18942,NA18947,NA18951,NA18968,NA18973,NA18997,NA18999 esv24251 10 84117850 84120281 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10618 S 451 0 19 NRG3 NA11894,NA12489,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19147,NA19190,NA19240,NA19257 nsv527270 10 84124349 84170185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703679 S 2026 0 1 NRG3 nsv467402 10 84132250 84200736 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542708 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRG3 HGDP00910 nsv526120 10 84166922 84170185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702370 S 2026 0 1 NRG3 esv4025 10 84227935 84228528 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26466 S 1 0 1 Single Asian sample YH NRG3 YH esv7990 10 84227966 84228443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30431 S 1 0 1 NRG3 SJK esv1370318 10 84227969 84228462 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154306 S 2 0 1 NRG3 HuRef nsv895813 10 84250023 84406109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553173 S 6533 0 1 NRG3 MS19777 nsv895814 10 84297018 84375876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601221 S 6533 0 1 NRG3 IS41984 dgv788n71 10 84297018 84406109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895815,nsv895817 M 6533 0 3 NRG3 IS35993,MS20440,MS22322 nsv895816 10 84323608 84373257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578564 S 6533 0 1 NRG3 IS34805 nsv895818 10 84353307 84406109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552260 S 6533 0 1 NRG3 MS19303 esv35106 10 84379583 84427200 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979297,essv6979296,essv6979295 M 771 1 0 NRG3 NA18524 esv2287780 10 84390549 84391088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863526 S 1 0 1 NRG3 NA18507 esv5009 10 84390671 84390959 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27450 S 1 0 1 Single Asian sample YH NRG3 YH dgv308e1 10 84390694 84427173 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv936,essv18884,esv1089 M 271 0 0 NRG3 NA07029 esv1006949 10 84390736 84390884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572078 S 3 0 1 NRG3 HuRef esv1211637 10 84390752 84390901 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779833 S 2 0 1 NRG3 HuRef nsv24044 10 84390753 84390901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42622 M 24 NRG3 nsv467403 10 84391488 84420068 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542709 S 1557 1 0 NRG3 1780846321_A nsv517505 10 84391488 84423371 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676354,nssv681935,nssv666962,nssv705209,nssv691043,nssv657711,nssv685937,nssv678746,nssv665512,nssv656036,nssv657216,nssv662706,nssv652212,nssv700663 M 2026 13 1 NRG3 nsv895819 10 84394962 84423371 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597882 S 6533 1 0 NRG3 IS41094 nsv8711 10 84396460 84421703 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18302 S 31 1 0 Samples from several populations that are part of the HapMap project. NRG3 NA07029 nsv442197 10 84400707 84421820 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NRG3 essv20465 10 84401882 84427173 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NRG3 NA06994 nsv818776 10 84410253 84420068 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417053,nssv1417054 M 112 2 0 NRG3 NA06994,NA07029 nsv516267 10 84527347 84555831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670980,nssv668486,nssv667194,nssv675592 M 2026 0 4 NRG3 esv34368 10 84528724 84608631 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979766,essv6979765,essv6979764,essv6988242 M 771 0 1 NRG3 NA18623 dgv309e1 10 84561902 84608631 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4508,esv1188,esv1290 M 271 0 0 NRG3 NA18623 nsv527348 10 84591433 84594362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703775 S 2026 0 1 NRG3 nsv516930 10 84678732 84706503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653477,nssv659520,nssv670642,nssv659466,nssv662960,nssv690093,nssv680931,nssv689032,nssv686331,nssv675080,nssv675558,nssv671635,nssv658204,nssv658865,nssv667262,nssv656667,nssv679919,nssv663298,nssv676955,nssv681732,nssv673430,nssv660925,nssv691842,nssv690385,nssv660881,nssv672041,nssv685551 M 2026 0 27 NRG3 esv24433 10 84702291 84707605 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13884 S 451 0 4 NRG3 NA18502,NA18858,NA18909,NA19225 esv2421719 10 84702878 84707152 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005313,essv5156735,essv5036655,essv5160807,essv5116773,essv5017967,essv5151399,essv5064088,essv5115741,essv5103996,essv5032462,essv5071642,essv5135311,essv5097007,essv5111061,essv5079834,essv5117865,essv5126437 M 1184 0 18 NRG3 NA18503,NA18504,NA18518,NA18519,NA18858,NA18860,NA18870,NA18909,NA19107,NA19117,NA19131,NA19144,NA19174,NA19209,NA19211,NA19225,NA19435,NA20335 nsv442198 10 84702878 84707152 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NRG3 nsv818779 10 84703098 84706503 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418176 S 112 0 1 NRG3 NA19144 nsv514579 10 84703912 84706840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628066 S 1414 0 1 NRG3 nsv895820 10 84713964 84856649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566424 S 6533 0 1 NRG3 IS30700 nsv831928 10 84728606 84908171 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448625 S 95 1 0 NRG3 nsv510231 10 84777748 84783748 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621460 S 4 0 1 "" NA15510 nsv525449 10 84890130 84908309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701577 S 2026 0 1 "" nsv825486 10 84926464 84929766 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428631 S 31 0 1 "" NA18947 dgv9n68 10 84958285 85176686 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv831929,nsv831930 M 95 4 0 "" nsv509360 10 84958757 84974534 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618081 S 4 1 0 "" CHM nsv507566 10 84963388 84969388 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619184 S 4 1 0 "" NA10860 nsv895821 10 84966410 85038324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574354 S 6533 0 1 "" IS33545 nsv7421 10 84966965 84993217 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2848 S 9 1 0 "" NA18555 esv274140 10 85050186 85050427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584177,essv2583793 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269918 10 85054558 85054724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500836,essv2499379,essv2501703,essv2513200,essv2503413,essv2505009,essv2494755,essv2509057,essv2494564,essv2495690,essv2503570,essv2499207,essv2497693,essv2502241,essv2503906,essv2499582 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11830,NA11994,NA12144,NA12249,NA12716,NA12828,NA18519,NA18522,NA18550,NA18916,NA18947,NA19114,NA19147,NA19257 nsv895822 10 85075964 85119567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513363 S 6533 0 1 "" SP55748 nsv24970 10 85119332 85119555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43548 M 24 "" dgv789n71 10 85129122 85205917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895824,nsv895823,nsv895825 M 6533 0 5 "" MS18588,SP51161,SP56783,SP81198,SP81347 esv2580412 10 85147713 85147859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327422 S 1 0 1 "" NA18507 nsv467405 10 85183926 85211638 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542710 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00991 esv27785 10 85211083 85240526 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16019 S 451 4 0 "" NA18505,NA18508,NA18909,NA19257 esv2520027 10 85316447 85317943 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219060 S 1 0 1 "" NA18507 esv23470 10 85340553 85341977 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20289 S 451 0 1 "" NA19147 nsv24708 10 85365906 85366124 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43286 M 24 "" nsv831931 10 85388710 85575589 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448632 S 95 1 0 "" nsv825488 10 85435923 85476100 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441301 S 31 0 1 "" NA18969 nsv7432 10 85471902 85505594 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8825 S 9 1 0 "" NA12156 nsv508597 10 85498051 85560424 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622713 S 4 0 1 "" NA18994 nsv525403 10 85499176 85499841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701526 S 2026 0 1 "" nsv819126 10 85512028 85514412 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419424 S 2 1 0 "" AK1 nsv820360 10 85512438 85514091 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420887 S 1 0 1 "" NA10851 nsv825489 10 85512438 85514091 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430009,nssv1440526,nssv1434589,nssv1431504,nssv1424408,nssv1429260,nssv1439071,nssv1427008 M 31 0 8 "" AK12,AK14,AK18,NA18547,NA18564,NA18570,NA18582,NA18973 esv29101 10 85512537 85514018 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12308,esv10867 M 451 33 0 "" NA07037,NA07045,NA11931,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv27996 10 85537824 85542867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17195 S 451 0 1 "" NA19190 esv271463 10 85563018 85563376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511213,essv2500234,essv2499408,essv2503421,essv2505041,essv2493561,essv2497523 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12006,NA12044,NA12716,NA12828,NA19137,NA19147 nsv895826 10 85571118 85888841 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507420 S 6533 1 0 "" SP54685 nsv825490 10 85600441 85601101 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439072 S 31 0 1 "" NA18973 nsv528995 10 85603815 85611078 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705698 S 2026 1 0 "" esv2185537 10 85616013 85616592 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826510 S 1 0 1 "" NA18507 esv5195 10 85616177 85616472 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27636 S 1 0 1 Single Asian sample YH "" YH esv9699 10 85616211 85616410 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32140 S 1 0 1 "" SJK nsv24919 10 85616213 85616419 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43497 M 24 "" nsv895827 10 85654011 85739174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545543 S 6533 0 1 "" MS16828 esv259553 10 85657079 85657483 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393923,essv2393846,essv2393728 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238 esv259971 10 85657095 85657503 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396765,essv2400209,essv2400051,essv2398796,essv2399050,essv2400255,essv2395839,essv2395275,essv2399107,essv2396044,essv2396250,essv2396816,essv2399959,essv2396804,essv2396270,essv2400733,essv2396711,essv2397982,essv2399626,essv2399201,essv2401086,essv2396939,essv2397605,essv2395595,essv2397684,essv2397838,essv2396063,essv2400696,essv2400864,essv2400620,essv2397860,essv2396889,essv2400423,essv2399146,essv2398453,essv2397895,essv2398247,essv2394414,essv2395898,essv2397397,essv2399292,essv2398008,essv2395943 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07347,NA10851,NA11829,NA11830,NA11918,NA11920,NA12003,NA12006,NA12155,NA12156,NA12249,NA12716,NA12717,NA12750,NA12751,NA12761,NA12776,NA12891,NA12892,NA18489,NA18501,NA18502,NA18505,NA18537,NA18542,NA18564,NA18576,NA18577,NA18579,NA18592,NA18609,NA18871,NA18907,NA18909,NA18943,NA18945,NA18980,NA19102,NA19147,NA19238 nsv25276 10 85739596 85739596 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43854 M 24 "" esv2505092 10 85907095 85908149 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181921 S 1 1 0 "" NA18507 nsv895828 10 85956853 86010680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583165 S 6533 0 1 CDHR1,LRIT1,LRIT2,RGR IS36298 esv270302 10 85973201 85973542 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517535,essv2515335,essv2518453,essv2515091,essv2517258 M 157 5 0 Samples from several populations that are part of the HapMap project. LRIT2 NA11918,NA12249,NA12287,NA12812,NA18970 nsv527522 10 86001909 86022733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703976 S 2026 0 1 RGR nsv523733 10 86016182 86022733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699549 S 2026 0 1 "" esv4771 10 86051009 86051425 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27212 S 1 0 0 Single Asian sample YH "" YH esv6255 10 86051224 86051368 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28696 S 1 0 0 "" SJK nsv522443 10 86101607 86125291 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705801 S 2026 1 0 FAM190B nsv831932 10 86243845 86397752 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448633 S 95 0 1 FAM190B nsv516506 10 86303407 86305424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668752,nssv700046,nssv681054 M 2026 0 3 "" esv2525941 10 86351579 86351937 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366836 S 1 1 0 "" NA18507 nsv519726 10 86404652 86473872 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697014 S 2026 1 0 "" nsv467407 10 86429829 86452994 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542712 S 1557 0 1 "" 1780854340_A nsv24820 10 86466045 86467342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43398 M 24 "" nsv7443 10 86532247 86554720 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9800 S 9 1 0 "" NA18507 esv271710 10 86592845 86592972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510763,essv2509928 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508 nsv7454 10 86609957 86642933 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv954 S 9 1 0 "" NA19240 esv23276 10 86671275 86673904 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12281 S 451 0 1 "" NA07045 dgv790n71 10 86686356 87123502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895829,nsv895831 M 6533 0 2 "" IS35993,MS10729 nsv442199 10 86728739 86737527 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv895830 10 86771947 86869106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564143 S 6533 0 1 "" IS30171 nsv831933 10 86781545 86972730 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448634 S 95 0 1 "" esv4425 10 86796802 86798661 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26866 S 1 0 1 Single Asian sample YH "" YH esv23224 10 86802945 86804631 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19386 S 451 0 1 "" NA07045 esv273733 10 86827237 86827479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580754 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv831934 10 86858799 87060248 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448635 S 95 0 1 "" esv1003146 10 86862277 86862277 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582729 S 3 1 0 "" HuRef esv1085190 10 86862278 86862278 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638594 S 2 1 0 "" HuRef nsv825491 10 86884549 86885489 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430775,nssv1432265,nssv1422793 M 31 3 0 "" AK16,AK20,NA18552 nsv7465 10 86928358 86962278 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8826 S 9 1 0 "" NA12156 esv1511441 10 87166358 87166358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968759 S 2 1 0 "" HuRef esv260021 10 87232474 87233138 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397620,essv2394965,essv2399331,essv2396154,essv2394638,essv2397937,essv2397210,essv2394516 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18511,NA18522,NA18523,NA18870,NA18907,NA19225,NA19257 esv24359 10 87232666 87233945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18610,esv10610 M 451 0 3 "" NA18523,NA18909,NA19225 nsv825492 10 87259267 87322312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441302 S 31 0 1 "" NA18969 nsv7475 10 87274601 87304940 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10770 S 9 1 0 "" NA18956 nsv7476 10 87290081 87334952 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8827 S 9 0 1 LOC100507470 NA12156 esv999303 10 87398191 87398636 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587180 S 3 0 1 GRID1 HuRef esv274544 10 87416206 87416653 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581487 S 7 1 0 Samples from several populations that are part of the HapMap project. GRID1 NA12878 nsv522357 10 87420101 87424453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695138 S 2026 0 1 GRID1 nsv519532 10 87421528 87424453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656722,nssv660099,nssv676030 M 2026 0 3 GRID1 nsv831935 10 87510785 87691231 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448636 S 95 1 0 GRID1 esv24557 10 87790939 87798399 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12836 S 451 0 1 GRID1 NA18861 nsv442200 10 87791026 87798355 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GRID1 nsv831936 10 87856824 88047369 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448637 S 95 0 1 GRID1,MIR346 esv2592801 10 87870833 87871588 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229384 S 1 1 0 GRID1 NA18507 esv1111287 10 87871309 87871309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636990 S 2 1 0 GRID1 HuRef nsv525816 10 87872777 87872896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702002 S 2026 0 1 GRID1 nsv7477 10 87882932 87916829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3887 S 9 1 0 GRID1 NA12878 esv29595 10 87942313 87949772 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16602 S 451 0 1 GRID1 NA06985 nsv515541 10 87944582 87949029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664668,nssv660715,nssv680549,nssv651831,nssv659865,nssv655464,nssv682014,nssv677979,nssv693182 M 2026 0 9 GRID1 esv270835 10 87953254 87953567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557772,essv2565810,essv2575961,essv2546279,essv2521106,essv2526182,essv2536489,essv2544056,essv2523161,essv2570642,essv2548297,essv2576848,essv2525405,essv2550355,essv2535301,essv2544526,essv2547352,essv2529187,essv2558261,essv2564650,essv2519951,essv2555158,essv2530690,essv2562064,essv2547006,essv2556930,essv2578556,essv2523555,essv2552895,essv2541136,essv2538371,essv2540673,essv2524384,essv2564835,essv2561259,essv2539547,essv2549589,essv2519539,essv2559988,essv2566288,essv2541793,essv2553466,essv2535826,essv2559211,essv2566920,essv2533787,essv2566538,essv2543112,essv2560626,essv2571539,essv2574511,essv2536016,essv2538103,essv2548848,essv2533219,essv2554555,essv2547998,essv2563304 M 157 58 0 Samples from several populations that are part of the HapMap project. GRID1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11830,NA11881,NA11894,NA11918,NA11920,NA11992,NA12004,NA12044,NA12045,NA12154,NA12156,NA12234,NA12249,NA12414,NA12717,NA12749,NA12750,NA12751,NA12815,NA12872,NA12873,NA12874,NA12892,NA18501,NA18510,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18592,NA18605,NA18608,NA18638,NA18853,NA18944,NA18948,NA18965,NA19116,NA19238,NA19240 esv272870 10 87953258 87953571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582827,essv2584182,essv2583794 M 7 3 0 Samples from several populations that are part of the HapMap project. GRID1 NA12892,NA19238,NA19240 nsv831938 10 87966385 88108163 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448638 S 95 1 0 GRID1,MIR346 nsv520914 10 87986431 88051783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697685 S 2026 0 1 GRID1,MIR346 nsv525817 10 88091347 88108932 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702003 S 2026 0 1 GRID1 esv28516 10 88115243 88117508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13635 S 451 0 3 GRID1 NA07037,NA07045,NA12878 esv270271 10 88135172 88135540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506728 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19108 nsv895832 10 88193048 88322954 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529222 S 6533 1 0 WAPAL SP81481 nsv7478 10 88213731 88247530 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8828 S 9 1 0 WAPAL NA12156 nsv509361 10 88238399 88255398 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621068,nssv619717,nssv623712 M 4 3 0 WAPAL NA10860,NA15510,NA18994 nsv7480 10 88250167 88260367 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5301 S 9 1 0 WAPAL NA19129 esv1003241 10 88253076 88254690 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564851 S 3 1 0 WAPAL HuRef esv1688003 10 88254178 88254178 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228599 S 2 1 0 WAPAL HuRef esv259598 10 88274346 88274649 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394160,essv2393943,essv2393845,essv2393661,essv2394349 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv259848 10 88274355 88274656 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400216,essv2399077,essv2398471,essv2399110,essv2401132,essv2396233,essv2399374,essv2396659,essv2399205,essv2397341,essv2401066,essv2396913,essv2395639,essv2397645,essv2397786,essv2396603,essv2399267,essv2395005,essv2396491,essv2395098,essv2399412,essv2400090,essv2394698,essv2395356,essv2395887,essv2397509,essv2394564,essv2398361,essv2395176,essv2399545,essv2396335,essv2397209,essv2396008,essv2400513 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11894,NA11920,NA11931,NA12006,NA12287,NA12414,NA12776,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18517,NA18550,NA18858,NA18861,NA18870,NA18916,NA18945,NA18947,NA18965,NA19093,NA19108,NA19137,NA19138,NA19225,NA19238,NA19240 esv1001048 10 88274449 88274449 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573831 S 3 1 0 "" HuRef esv1760397 10 88274546 88274546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199283 S 2 1 0 "" HuRef nsv24282 10 88313553 88318407 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42860 M 24 "" nsv518155 10 88326259 88330991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695576 S 2026 0 1 "" nsv467411 10 88380217 88430546 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542713 S 1557 0 1 LDB3,OPN4 NINDS_173 nsv470968 10 88396950 88459567 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544978,nssv544974,nssv544972,nssv544977,nssv544975,nssv544973,nssv544971 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LDB3,OPN4 HGDP00543,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00825,HGDP00978 dgv116n27 10 88403292 88432420 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467412,nsv467413 M 1557 0 2 LDB3,OPN4 HGDP00546,HGDP00619 dgv791n71 10 88403687 88412400 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895853,nsv895833 M 6533 2 0 OPN4 SP51486,SP54635 dgv792n71 10 88403687 88418056 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895842,nsv895838,nsv895843,nsv895854,nsv895844,nsv895834 M 6533 9 0 OPN4 SP52077,SP52708,SP53687,SP54585,SP54614,SP54650,SP56260,SP56267,SP57367 dgv793n71 10 88403687 88421506 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895845,nsv895846,nsv895835 M 6533 4 0 LDB3,OPN4 SP54381,SP54442,SP54620,SP56200 nsv524269 10 88404192 88430546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700167 S 2026 0 1 LDB3,OPN4 nsv895836 10 88404192 88439357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597307,nssv1572652,nssv1579006 M 6533 0 3 LDB3,OPN4 IS33162,IS35007,IS40799 nsv895837 10 88404549 88413604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499490 S 6533 0 1 OPN4 SP50159 nsv895839 10 88404839 88407992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506994 S 6533 1 0 OPN4 SP54448 dgv794n71 10 88404839 88412512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895841,nsv895852,nsv895851,nsv895840,nsv895850 M 6533 0 7 OPN4 SP50046,SP52656,SP54526,SP54672,SP56385,SP56846,SP56874 dgv795n71 10 88405190 88409386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895848,nsv895849,nsv895847 M 6533 0 3 OPN4 SP52493,SP54884,SP55717 dgv796n71 10 88406943 88412872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895855,nsv895856 M 6533 0 2 OPN4 SP52060,SP81015 nsv517139 10 88422308 88432420 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666641,nssv693129,nssv678783,nssv663937,nssv653899,nssv683272,nssv688902,nssv651768,nssv680811,nssv652651,nssv673076,nssv693395,nssv657230,nssv667338,nssv673199,nssv657217,nssv653385,nssv662484,nssv688478,nssv675344,nssv693736,nssv686634,nssv671636,nssv674996,nssv682739,nssv690122,nssv691152,nssv654462,nssv670706,nssv661362,nssv674383,nssv663207,nssv670505,nssv654637,nssv663598,nssv655518,nssv658668,nssv667592,nssv680532,nssv659704,nssv692984,nssv657489,nssv677145,nssv674894,nssv669130,nssv673598,nssv693054,nssv692142,nssv655661,nssv684312,nssv664303,nssv675895,nssv657129,nssv658590,nssv675998,nssv691865,nssv663811,nssv667243,nssv668123,nssv659173,nssv652114,nssv654278,nssv668469,nssv683734,nssv679164,nssv653848,nssv684520,nssv660926,nssv663513,nssv691415,nssv654859,nssv680550,nssv665774,nssv665661,nssv663275,nssv661216,nssv683221,nssv680623,nssv656429,nssv688988,nssv658220,nssv673818,nssv662744,nssv656000,nssv660750,nssv659975,nssv665326,nssv656468,nssv689499,nssv692419,nssv692702,nssv687145,nssv681821,nssv655255,nssv675756,nssv658343,nssv669491,nssv665760,nssv676791,nssv661738,nssv672673,nssv680991,nssv653943,nssv674116,nssv691996,nssv679940,nssv673020,nssv682873,nssv681991,nssv651738,nssv683234,nssv659216,nssv663720,nssv689567,nssv668093,nssv665575,nssv655783,nssv672915,nssv669993,nssv666092,nssv677554,nssv665078,nssv687999,nssv682792,nssv674230,nssv657524,nssv686891,nssv686177,nssv679252,nssv670433,nssv662707,nssv681813,nssv681458,nssv668301,nssv667195,nssv666470,nssv672042,nssv659351,nssv675303,nssv667889,nssv667461,nssv679516,nssv675362,nssv662291,nssv660207,nssv680207,nssv681710,nssv658451,nssv671427,nssv651903,nssv673556,nssv692929,nssv662792,nssv654339,nssv653132,nssv658910,nssv653972,nssv657977,nssv666621,nssv665428,nssv680642,nssv680008,nssv653017,nssv683611,nssv656741,nssv667719,nssv699899,nssv672887,nssv678163,nssv652129,nssv685365,nssv666585,nssv660155,nssv676074,nssv691802,nssv670339,nssv661135,nssv690336,nssv688951,nssv669956,nssv676355,nssv662877,nssv688517,nssv684610,nssv666744,nssv686700,nssv658849,nssv657830,nssv664000,nssv684880,nssv660051,nssv679332,nssv662073,nssv681849,nssv656320,nssv663752,nssv661397,nssv687514,nssv688631,nssv689353,nssv681636,nssv664100,nssv683256,nssv670060,nssv691745,nssv678089,nssv685394,nssv687316,nssv696891,nssv669700,nssv692369,nssv676442,nssv688041,nssv655130,nssv663353,nssv667117,nssv690624,nssv677784,nssv663181,nssv678449 M 2026 3 217 LDB3 nsv895857 10 88426470 88548451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546742 S 6533 0 1 BMPR1A,LDB3 MS17208 nsv520811 10 88430387 88445222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697625 S 2026 0 1 LDB3 nsv519805 10 88445859 88451679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675291,nssv658798 M 2026 0 2 LDB3 dgv310e1 10 88505038 89299742 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv792,essv11682,essv21226,essv22468,essv13613,essv22030,esv592,essv11178,essv22233,essv20795,essv20396,essv16894,essv18750,essv11546,essv11251,essv20968,essv4989,essv4781,esv709,essv5360,essv5542,essv14120,essv16270,essv9833,essv15013,essv17183,essv16734,essv21513,essv24846,essv3811,essv21348,essv20640,essv7032,essv2215,essv13529,essv23622,essv22314,essv24051 M 271 0 0 AGAP11,BMPR1A,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,MINPP1,MIR4678,MMRN2,SNCG NA06985,NA07000,NA10830,NA10859,NA11830,NA12006,NA12044,NA12146,NA12154,NA12761,NA12801,NA12873,NA12874,NA12878,NA12892,NA18529,NA18563,NA18612,NA18620,NA18637,NA18861,NA18863,NA18870,NA18872,NA18943,NA18956,NA18960,NA19127,NA19154,NA19160,NA19161,NA19171,NA19173,NA19204,NA19205,NA19211 esv22608 10 88506027 88506813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15997 S 451 0 1 BMPR1A NA07045 esv33714 10 88557449 88565416 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99489 S 51 0 1 BMPR1A 22335 nsv7481 10 88576908 88598780 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8829 S 9 0 1 BMPR1A NA12156 esv1482533 10 88614970 88614970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133281 S 2 1 0 BMPR1A HuRef dgv311e1 10 88616596 88898563 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22863,essv15118 M 271 0 0 AGAP11,BMPR1A,C10orf116,FAM25A,FAM35A,GLUD1,MMRN2,SNCG NA12760,NA19129 dgv312e1 10 88616596 89105572 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1532,essv2980,essv20188,essv10422,essv17514,essv6166,essv17842,essv24415,essv15370,essv15882,essv7182,essv17924,essv19425,essv12197,essv24659,essv24298,essv18925,essv6602,essv17435,essv20288,essv23447,essv386,essv21256 M 271 0 0 AGAP11,BMPR1A,C10orf116,FAM22A,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,MMRN2,SNCG NA10831,NA10854,NA10855,NA10856,NA11829,NA11832,NA11840,NA12003,NA12005,NA12043,NA12144,NA12707,NA12762,NA18532,NA18547,NA18621,NA18862,NA18971,NA18980,NA18981,NA19101,NA19222,NA19223 nsv428236 10 88616596 89299742 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451944,nssv451934,nssv451928,nssv451940,nssv451930,nssv451929,nssv451949,nssv451937,nssv451947,nssv451943,nssv451939,nssv451933,nssv451936,nssv451946,nssv451938,nssv451935,nssv451941,nssv451932,nssv451945,nssv451948 M 62 0 20 AGAP11,BMPR1A,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190,MINPP1,MIR4678,MMRN2,SNCG HGDP00449,HGDP00450,HGDP00463,HGDP00472,HGDP00473,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv517487 10 88649027 88723172 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696782,nssv684561,nssv654899,nssv683797,nssv652165,nssv672583,nssv653325,nssv660010,nssv654749,nssv668658,nssv696694,nssv665892,nssv657453 M 2026 5 8 AGAP11,BMPR1A,C10orf116,MMRN2,SNCG esv2566276 10 88655818 88657110 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208914 S 1 0 1 BMPR1A NA18507 esv2249804 10 88655967 88656664 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839661 S 1 0 1 BMPR1A NA18507 esv2811 10 88656100 88656672 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25252 S 1 0 1 Single Asian sample YH BMPR1A YH esv9067 10 88656154 88656520 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31508 S 1 0 1 BMPR1A SJK nsv7482 10 88660303 88691580 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6405 S 9 1 0 BMPR1A,MMRN2 NA12156 nsv470969 10 88686361 88722644 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544979 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGAP11,C10orf116,MMRN2,SNCG HGDP00697 nsv895858 10 88687528 88728844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530685,nssv1546743 M 6533 0 2 AGAP11,C10orf116,MMRN2,SNCG MS10311,MS17208 nsv895859 10 88690618 88714440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509341 S 6533 0 1 MMRN2,SNCG SP54782 esv24935 10 88692182 88693042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15360 S 451 0 1 MMRN2 NA07045 esv33376 10 88706078 88714691 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99521 S 51 0 1 MMRN2,SNCG 22335 essv23924 10 88715605 88898563 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGAP11,C10orf116,FAM25A,FAM35A,GLUD1 NA12814 dgv313e1 10 88715605 89105572 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12761,essv16522,essv1827,essv282,essv8472,essv16028,essv19162,essv11993,essv83,essv16450,essv18174,essv1264,essv1787,essv10781,essv22598,essv13796,essv4576,essv590,essv1392,essv4916,essv21067,essv19749,essv15220,essv12539,essv10914,essv13682,essv2584,essv14738,essv4485,essv9234,essv4118,essv6698,essv10168,essv7795,essv21713,essv9038,essv1091,essv3879,essv12360,essv24757,essv20347,essv3204,essv6016,essv13082,essv10485,essv18616,essv12856,essv22998,essv5037,essv14351,essv11931,essv12682,essv14468,essv10568,essv12512,essv6303,essv4047,essv19220,essv2547,essv13466,essv24527,essv9333,essv23351,essv13890,essv23079,essv4394,essv15564,essv4626,essv24993,essv18102,essv8797,essv21374,essv19566,essv10819,essv22659,essv5741,essv15653,essv17699,essv9728,essv15789,essv17101,essv22147,essv8125,essv1431,essv22365,essv6781,essv3342,essv11855,essv4305,essv5123,essv1619,essv2879,essv21434,essv3771,essv2265,essv2644,essv15480,essv162,essv3108,essv10295,essv8754 M 271 0 0 AGAP11,C10orf116,FAM22A,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190 NA06991,NA07348,NA07357,NA10835,NA10838,NA10839,NA10857,NA10860,NA11993,NA12057,NA12234,NA12236,NA12248,NA12717,NA12740,NA12750,NA12752,NA12802,NA12812,NA12864,NA12865,NA12872,NA12875,NA18500,NA18501,NA18502,NA18505,NA18506,NA18508,NA18515,NA18516,NA18517,NA18523,NA18524,NA18552,NA18555,NA18558,NA18561,NA18562,NA18571,NA18573,NA18576,NA18577,NA18593,NA18594,NA18603,NA18608,NA18609,NA18635,NA18852,NA18853,NA18854,NA18871,NA18912,NA18913,NA18914,NA18942,NA18944,NA18945,NA18953,NA18961,NA18964,NA18966,NA18967,NA18968,NA18969,NA18974,NA18976,NA18978,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19003,NA19007,NA19092,NA19094,NA19098,NA19119,NA19120,NA19128,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19153,NA19159,NA19172,NA19192,NA19194,NA19201,NA19206,NA19207,NA19209,NA19210,NA19221,NA19240 dgv314e1 10 88715605 89195346 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7599,essv10050,essv11009,essv2006,essv17270 M 271 0 0 AGAP11,C10orf116,FAM22A,FAM22D,FAM25A,FAM35A,GLUD1,LOC439994,LOC728190 NA18503,NA18545,NA18949,NA19099,NA19143 dgv797n71 10 88715964 88731830 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895861,nsv895860 M 6533 0 3 AGAP11,C10orf116 SP50916,SP54645,SP55996 esv27213 10 88730654 88774483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12871,esv20870 M 451 0 2 AGAP11,FAM25A NA12776,NA12878 nsv831939 10 88734014 88903991 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448642,nssv1448641,nssv1448639,nssv1448647,nssv1448644,nssv1448645,nssv1448643,nssv1448646 M 95 8 0 AGAP11,FAM25A,FAM35A,GLUD1 nsv8712 10 88747521 88777021 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19345,nssv19877,nssv19156 M 31 0 3 Samples from several populations that are part of the HapMap project. AGAP11,FAM25A NA18552,NA18563,NA18980 nsv895862 10 88807161 88837965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500038 S 6533 0 1 GLUD1 SP50073 esv27843 10 88818485 88836679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10693 S 451 0 1 GLUD1 NA12878 nsv8714 10 88818864 88837392 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19907,nssv19485,nssv21661,nssv24457,nssv19444,nssv22077,nssv21582 M 31 0 7 Samples from several populations that are part of the HapMap project. GLUD1 NA10839,NA18502,NA18537,NA18563,NA19132,NA19221,NA19240 nsv825493 10 88837969 88854802 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426897 S 31 1 0 FAM35A,GLUD1 AK6 nsv895863 10 88858804 89114885 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592676 S 6533 1 0 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190 IS39243 nsv8715 10 88859433 89018021 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19578,nssv22463,nssv21642,nssv17689,nssv19465,nssv24483,nssv17842,nssv22962,nssv18654,nssv21691,nssv17560,nssv19649,nssv17765,nssv19779,nssv19443,nssv19130,nssv21612,nssv19937,nssv20258,nssv19405,nssv19719,nssv22034,nssv20197,nssv21253,nssv18624,nssv19186,nssv18362,nssv19474,nssv17719,nssv19375,nssv17471,nssv22137,nssv19136,nssv18332,nssv22004,nssv19146,nssv24509 M 31 4 27 Samples from several populations that are part of the HapMap project. FAM22A,FAM35A,LOC728190 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19221,NA19240 esv27973 10 88861630 89119055 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12461,esv11223,esv13181,esv14629,esv17143,esv19607 M 451 4 26 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190 NA06985,NA07037,NA07045,NA11894,NA11931,NA12004,NA12044,NA12156,NA12239,NA12749,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv315e1 10 88878227 89299742 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21048,essv9195,essv15122,essv1026,essv22420,essv5464,essv10689,essv19907,essv18343,essv18316,essv20604 M 271 0 0 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190,MINPP1,MIR4678 NA06991,NA07056,NA10846,NA10861,NA11994,NA12813,NA18632,NA18855,NA19005,NA19128,NA19129 dgv316e1 10 88886420 89195346 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25042,essv23867,essv21942,essv20502,essv25057 M 271 0 0 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190 NA07000,NA12801,NA12814,NA12874,NA12892 dgv798n71 10 88896905 89012068 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895864,nsv895865 M 6533 6 0 FAM22A,FAM35A,LOC728190 IS34381,IS35195,MS16699,MS17501,MS18290,MS20009 dgv799n71 10 88937453 89122984 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895869,nsv895866,nsv895871,nsv895873 M 6533 4 0 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190 IS38525,MS15596,MS23566,SP55671 dgv800n71 10 88937453 89154174 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv895868,nsv895870,nsv895874,nsv895872,nsv895867 M 6533 9 0 FAM22A,FAM22D,FAM35A,LOC439994,LOC728190 IS34811,IS34962,IS35236,IS37214,IS38078,IS38235,IS38633,MS14683,MS14828 essv20231 10 88943287 89105572 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM22A,LOC439994,LOC728190 NA12144 nsv498736 10 88974174 89107926 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586274 S 9 0 1 FAM22A,FAM22D,LOC439994,LOC728190 nsv482147 10 88975185 88984713 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558508 S 1 1 0 FAM22A KB1 nsv7483 10 88977030 89154814 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10771,nssv956,nssv5302 M 9 0 3 FAM22A,FAM22D,LOC439994,LOC728190 NA18956,NA19129,NA19240 nsv514580 10 88987176 89001472 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627099 S 1414 0 0 LOC728190 essv7646 10 88987279 89274999 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM22D,LOC439994,LOC728190,MINPP1,MIR4678 NA18632 nsv514581 10 89027376 89065904 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628067 S 1414 0 0 LOC728190 nsv7207 10 89053264 89150266 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9801 S 9 0 0 FAM22D,LOC439994,LOC728190 NA18507 nsv8716 10 89053660 89055378 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19160 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC728190 NA18853 nsv8717 10 89056683 89104819 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20227 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC439994,LOC728190 NA11830 nsv442588 10 89060724 89084996 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC728190 nsv895875 10 89081089 89193509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513043 S 6533 0 1 FAM22D,LOC439994,LOC728190 SP55671 nsv895876 10 89093028 89202986 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587610 S 6533 1 0 FAM22D,LOC439994 IS38069 nsv514582 10 89094880 89097048 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627100 S 1414 0 0 "" nsv8718 10 89103532 89105804 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19473,nssv18392,nssv19809 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12740 nsv482148 10 89107457 89120432 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558509 S 1 1 0 FAM22D KB1 nsv8719 10 89132347 89180746 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17795,nssv19839,nssv17531,nssv18684,nssv21672,nssv19504,nssv22167,nssv19495,nssv20257,nssv17872,nssv21721,nssv19638,nssv19608,nssv24535,nssv22064,nssv19176,nssv21283,nssv17501,nssv19967,nssv22991 M 31 0 18 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18563,NA18564,NA18860,NA18942,NA18975,NA18980,NA19132,NA19221,NA19240 esv26704 10 89138473 89266538 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15125,esv10422,esv19671,esv17069,esv13250 M 451 10 27 MINPP1,MIR4678 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 esv32793 10 89148083 89174470 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99294 S 51 1 0 "" 22275 nsv54 10 89160463 89177356 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv54 S 1 1 0 "" NA15510 nsv510993 10 89170895 89258474 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621646 S 4 0 0 MINPP1,MIR4678 NA15510 esv32576 10 89174470 89199792 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101555,essv97521,essv101125,essv93806,essv100839,essv101008,essv101422,essv97892,essv93028,essv95342,essv95816,essv94635,essv98950,essv92752,essv95953,essv93354,essv94927,essv92545,essv99244,essv97635,essv100603,essv99364,essv96346,essv94216 M 51 1 23 "" 21603,21616,21618,21634,21656,21693,21805,21837,21863,21872,21911,21932,21938,21944,22127,22170,22231,22233,22275,22278,22298,22335,22371,22394 nsv8720 10 89182051 89183719 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19190 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv8721 10 89219426 89250487 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24561,nssv19525,nssv19216,nssv19555,nssv18714,nssv17779 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18552,NA18572,NA18975,NA18980,NA19221 nsv511458 10 89263559 89282617 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626072 S 1 0 1 MINPP1 1 nsv512173 10 89264394 89268034 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624738 S 1 0 1 MINPP1 1 dgv166n67 10 89264968 89266717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825495,nsv825494 M 31 2 0 MINPP1 AK8,NA18972 nsv825496 10 89265522 89266717 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430776,nssv1430010,nssv1441303,nssv1434741,nssv1440527,nssv1424409,nssv1431505,nssv1432266,nssv1429262,nssv1423614,nssv1436869,nssv1428493,nssv1428644,nssv1434590 M 31 0 14 MINPP1 AK10,AK12,AK14,AK16,AK18,AK20,NA18542,NA18564,NA18570,NA18582,NA18592,NA18947,NA18969,NA18999 nsv820304 10 89265615 89267035 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419257 S 2 1 0 MINPP1 AK1 esv1003677 10 89265666 89266717 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586846 S 3 0 1 MINPP1 HuRef nsv825497 10 89265666 89266717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422795 S 31 1 0 MINPP1 NA18552 nsv821205 10 89265874 89266717 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420888 S 1 0 1 MINPP1 NA10851 nsv825499 10 89265959 89266717 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425980 S 31 0 1 MINPP1 AK4 nsv508598 10 89270786 89367952 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622721 S 4 0 1 MINPP1 NA18994 nsv819899 10 89302706 89306468 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419576 S 2 0 1 MINPP1 AK1 nsv526518 10 89314643 89322124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702828 S 2026 0 1 "" nsv525497 10 89326814 89329043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701629 S 2026 0 1 "" esv2608298 10 89363103 89364104 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335660 S 1 1 0 "" NA18507 esv267570 10 89363624 89363971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514589,essv2516750,essv2514027,essv2518671,essv2515388,essv2515079,essv2518010,essv2515990,essv2514252,essv2517620,essv2517311,essv2519066,essv2518406 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12043,NA12045,NA12249,NA12812,NA12872,NA12873,NA12874,NA12878,NA18970,NA19141,NA19240 esv272190 10 89363624 89363971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581634,essv2581274 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv259687 10 89371971 89372381 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395179 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19108 esv2122066 10 89408367 89408795 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819432 S 1 0 1 "" NA18507 esv22736 10 89408607 89409907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12617,esv11936 M 451 0 2 PAPSS2 NA11931,NA19190 nsv510994 10 89420421 89461303 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624352 S 4 0 0 PAPSS2 NA18994 nsv507567 10 89445668 89451668 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620642 S 4 1 0 PAPSS2 NA15510 esv23999 10 89446292 89446985 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10410 S 451 0 1 PAPSS2 NA19108 nsv518233 10 89502819 89573982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695662 S 2026 0 1 ATAD1,CFL1P1 esv2254676 10 89551081 89551490 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685056 S 1 0 1 ATAD1 NA18507 esv1509111 10 89551282 89551340 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800335 S 2 0 1 ATAD1 HuRef nsv24540 10 89573936 89573936 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43118 M 24 CFL1P1 esv275087 10 89622490 89632828 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585463,essv2585521 M 1250 1 1 PTEN nsv820703 10 89642711 89643771 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420889 S 1 0 1 PTEN NA10851 esv25064 10 89642815 89643692 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13725 S 451 28 0 PTEN NA06985,NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12239,NA12287,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv2530664 10 89675119 89676614 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284362 S 1 0 1 PTEN NA18507 nsv831940 10 89801227 89979179 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448648 S 95 1 0 "" esv2569574 10 89804319 89805269 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199954 S 1 1 0 "" NA18507 esv272648 10 89804923 89805163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581889,essv2582683,essv2583166 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271705 10 89804923 89805187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575863,essv2546221,essv2526297,essv2542531,essv2536385,essv2544088,essv2571075,essv2556714,essv2568110,essv2545538,essv2523471,essv2531716,essv2577610,essv2570528,essv2548201,essv2521675,essv2576588,essv2550731,essv2535148,essv2520716,essv2547575,essv2564318,essv2577649,essv2559762,essv2564013,essv2530686,essv2561946,essv2537232,essv2528572,essv2546841,essv2540164,essv2520844,essv2557541,essv2552570,essv2532183,essv2562746,essv2569281,essv2550154,essv2527338,essv2544641,essv2523620,essv2541409,essv2538418,essv2542790,essv2540223,essv2524327,essv2565118,essv2534610,essv2539532,essv2549362,essv2519795,essv2560089,essv2566303,essv2531159,essv2532507,essv2568003,essv2528890,essv2567394,essv2541610,essv2570020,essv2563643,essv2553355,essv2535751,essv2559105,essv2541922,essv2543486,essv2556265,essv2527740,essv2562366,essv2539451,essv2534055,essv2572931,essv2533739,essv2567087,essv2566653,essv2529841,essv2527604,essv2557670,essv2555940,essv2534277,essv2531661,essv2573602,essv2543254,essv2577025,essv2572185,essv2526822,essv2575289,essv2526457,essv2560925,essv2530292,essv2572619,essv2568833,essv2545206,essv2560427,essv2548160,essv2551228,essv2536090,essv2537891,essv2548755,essv2554523,essv2548025,essv2525122,essv2563317 M 157 103 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10847,NA11830,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12716,NA12717,NA12751,NA12761,NA12776,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18502,NA18505,NA18507,NA18508,NA18511,NA18522,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18944,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19102,NA19114,NA19137,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19257 esv271746 10 89853881 89853990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496841,essv2504108,essv2501009,essv2497718,essv2499645 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18505,NA18856,NA19147,NA19225 nsv895877 10 89874011 89895478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577483 S 6533 1 0 "" IS34472 esv259673 10 89881956 89882247 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400240,essv2399047,essv2399737,essv2396593,essv2399491,essv2395302,essv2396338 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA12828,NA18507,NA18858,NA18916,NA19138 esv2597833 10 89883772 89884640 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299507 S 1 1 0 "" NA18507 esv259942 10 89884161 89884505 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394778,essv2395563,essv2397790,essv2396482,essv2395522,essv2397924,essv2400817,essv2395174 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA18501,NA18505,NA18517,NA18563,NA18907,NA18952,NA19108 esv8645 10 89884325 89884399 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31086 S 1 1 0 "" SJK esv1541734 10 89884341 89884341 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004696 S 2 1 0 "" HuRef nsv895878 10 89949062 89996487 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577484 S 6533 1 0 "" IS34472 nsv467414 10 89996487 90032134 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542716 S 1557 0 1 RNLS 1780854255_A nsv895879 10 90005705 90209278 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577485 S 6533 1 0 RNLS IS34472 esv2075872 10 90139107 90139541 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862849 S 1 0 1 RNLS NA18507 nsv825500 10 90211423 90292483 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441304 S 31 0 1 RNLS NA18969 esv271051 10 90237394 90237479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519056 S 157 1 0 Samples from several populations that are part of the HapMap project. RNLS NA19141 nsv825501 10 90284847 90285680 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421947 S 31 0 1 RNLS NA18997 nsv24973 10 90324891 90325032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43551 M 24 RNLS nsv831941 10 90400468 90577312 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448649 S 95 1 0 ANKRD22,LIPF,LIPK,LIPM,LIPN esv2335374 10 90444842 90445244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705756 S 1 0 1 "" NA18507 esv5227 10 90444899 90445159 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27668 S 1 0 1 Single Asian sample YH "" YH nsv24430 10 90444985 90445109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43008 M 24 "" esv1297628 10 90499507 90499507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641420 S 2 1 0 LIPK HuRef nsv825502 10 90508974 90518493 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441305 S 31 0 1 LIPN NA18969 nsv825503 10 90511165 90512249 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421948 S 31 0 1 LIPN NA18997 esv2179332 10 90517188 90517627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577815 S 1 0 1 LIPN NA18507 nsv7484 10 90547728 90589652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10772,nssv6406 M 9 2 0 ANKRD22,LIPM NA12156,NA18956 nsv831942 10 90554677 90720332 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448650,nssv1448653,nssv1448652 M 95 3 0 ACTA2,ANKRD22,LIPM,STAMBPL1 nsv831943 10 90654816 90855814 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448654 S 95 1 0 ACTA2,FAS,FAS-AS1,MIR4679-1,MIR4679-2,STAMBPL1 nsv825504 10 90720210 90720687 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421949 S 31 0 1 ACTA2 NA18997 esv24530 10 90784968 90793035 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10647 S 451 1 0 "" NA12878 nsv895880 10 90806040 90864009 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567683 S 6533 0 1 MIR4679-1,MIR4679-2 IS31137 nsv831944 10 90812634 90956998 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448656,nssv1448657,nssv1448655 M 95 3 0 CH25H,MIR4679-1,MIR4679-2 dgv49n21 10 90816232 90821971 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525285,nsv527487 M 2026 0 2 "" dgv317e1 10 90825044 91007466 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv60,esv48,essv20041 M 271 0 0 CH25H,LIPA NA07048 nsv895881 10 90832411 90929983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597773 S 6533 0 1 "" IS41317 esv2561120 10 90855217 90856771 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195619 S 1 0 1 "" NA18507 nsv517170 10 90921582 90965187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692398,nssv684853,nssv657831,nssv661099,nssv692274,nssv653917,nssv676141,nssv702059,nssv677841,nssv693846,nssv659795,nssv654687,nssv675923,nssv685752,nssv668343,nssv690546,nssv655274,nssv680735,nssv661974,nssv655166,nssv660821,nssv679820,nssv674947,nssv656996,nssv681592,nssv690697,nssv668262,nssv675363,nssv652502,nssv666963,nssv667490,nssv660882,nssv652521,nssv657884,nssv683480,nssv674924 M 2026 0 36 CH25H,LIPA nsv8722 10 90929856 90947401 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19166,nssv22493,nssv19503 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA18972,NA19007 nsv437127 10 90929983 90958083 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467008 S 60 0 1 Samples from several populations that are part of the HapMap project. CH25H NA07048 nsv512174 10 90930295 90938746 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624739 S 1 0 1 "" 1 nsv511442 10 90930305 90947383 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626054 S 1 0 1 "" 1 dgv7n64 10 90930338 90935788 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818780,nsv818781 M 112 0 4 "" NA12812,NA18609,NA18972,NA18978 nsv825505 10 90930539 90938023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433038 S 31 0 1 "" NA18972 dgv117n27 10 90930667 90935788 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467419,nsv467421,nsv467420 M 1557 0 3 "" 1782681142_A,HGDP00669,HGDP01101 esv2421681 10 90930667 90938070 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5078751,essv5142420,essv5062139,essv5126015,essv5117749,essv5104018,essv5004255,essv5047476,essv5007083,essv5055762,essv5062883,essv5118429,essv5011115,essv5131015,essv5010890,essv5084266,essv5015239,essv5057319,essv5022588,essv5151609,essv5113604,essv5112143,essv5078876,essv5148128,essv5117565,essv5038084,essv5148329,essv5105394,essv5033476,essv5111764,essv5084595,essv5097916,essv5123055,essv5053558,essv5160179,essv5149740,essv5104555,essv5004883,essv5133438,essv5050551,essv5029146,essv5110065,essv5063673,essv5029995,essv5077538,essv5051113,essv5006006,essv5098208,essv5103115,essv5016844,essv5111014,essv5149733 M 1184 0 52 "" NA07051,NA07055,NA07056,NA12272,NA12335,NA12340,NA12348,NA12413,NA12812,NA12829,NA12843,NA17989,NA17996,NA18101,NA18107,NA18127,NA18131,NA18146,NA18154,NA18546,NA18573,NA18609,NA18622,NA18636,NA18642,NA18647,NA18745,NA18748,NA18972,NA18978,NA19007,NA19675,NA19677,NA19679,NA19680,NA19789,NA19790,NA19904,NA20348,NA20528,NA20760,NA20765,NA20778,NA20799,NA20850,NA20871,NA20872,NA20873,NA20877,NA20894,NA20897,NA21142 dgv118n27 10 90930667 90965187 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467422,nsv467423 M 1557 0 2 CH25H,LIPA HGDP00407,HGDP01399 nsv442201 10 90932947 90938070 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514583 10 90932992 90937792 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628068 S 1414 0 1 "" nsv523061 10 90967674 90967739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698747 S 2026 1 0 LIPA nsv895882 10 90992907 91011625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598513 S 6533 0 1 LIPA IS40819 nsv520796 10 90997450 91000459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675559,nssv689951,nssv693238,nssv681476 M 2026 0 4 LIPA nsv516481 10 91007343 91008500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668628,nssv687126,nssv659654,nssv687202 M 2026 0 4 "" esv34085 10 91055929 91164155 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 IFIT1,IFIT1B,IFIT2,IFIT3 nsv528603 10 91109624 91114009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705229 S 2026 0 1 "" nsv819719 10 91155743 91164580 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418557 S 2 1 0 IFIT5 AK1 esv271454 10 91295787 91295872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513875 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv527532 10 91358618 91361001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703992 S 2026 0 1 PANK1 nsv507568 10 91460561 91466561 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623235,nssv620645,nssv619193 M 4 3 0 KIF20B NA10860,NA15510,NA18994 nsv825506 10 91473801 91474684 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439075 S 31 0 1 KIF20B NA18973 esv2100770 10 91489051 91489479 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748221 S 1 0 1 KIF20B NA18507 esv2641331 10 91536537 91537954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391774 S 1 0 1 "" NA18507 esv2353683 10 91537180 91537895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735522 S 1 0 1 "" NA18507 esv3075 10 91537318 91537753 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25516 S 1 0 1 Single Asian sample YH "" YH esv5792 10 91537368 91537709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28233 S 1 0 1 "" SJK esv1677882 10 91538418 91538418 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185460 S 2 1 0 "" HuRef nsv895883 10 91600581 92185808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537826 S 6533 1 0 "" MS13379 esv28620 10 91632989 91634183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20694 S 451 0 2 "" NA18861,NA18907 nsv467430 10 91671324 92287923 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542724 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01374 nsv7485 10 91677089 91685378 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv957 S 9 1 0 "" NA19240 nsv7486 10 91687530 91727027 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv958,nssv5303 M 9 2 0 "" NA19129,NA19240 nsv528860 10 91694792 91699103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705540 S 2026 0 1 "" esv272591 10 91707585 91713678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578971 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270378 10 91707586 91713700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495244,essv2500229,essv2499419,essv2495857,essv2508538,essv2507784,essv2503820,essv2511896,essv2510625,essv2504295,essv2506065,essv2507871,essv2506390,essv2511322,essv2512717,essv2499311,essv2501554,essv2505351,essv2498578,essv2495511,essv2502392,essv2500553,essv2495110,essv2499031,essv2509409,essv2498722,essv2512137,essv2498045,essv2499596,essv2513101 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11992,NA12006,NA12044,NA12489,NA12717,NA12751,NA12761,NA18499,NA18501,NA18505,NA18523,NA18564,NA18566,NA18570,NA18577,NA18605,NA18608,NA18853,NA18858,NA18916,NA18948,NA18956,NA18964,NA19114,NA19129,NA19138,NA19238,NA19240 esv2518699 10 91744962 91748203 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212751 S 1 0 1 "" NA18507 nsv519094 10 91759925 91917176 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696567 S 2026 1 0 "" esv9604 10 91799840 91800205 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32045 S 1 0 1 "" SJK nsv895884 10 91851393 91949124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516350 S 6533 0 1 "" SP56795 nsv7487 10 91857013 91863529 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv959 S 9 1 0 "" NA19240 nsv507569 10 91857293 91863293 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623236 S 4 1 0 "" NA18994 nsv895885 10 91902473 91978902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527082 S 6533 0 1 "" SP58141 nsv467431 10 91912363 91932199 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542725 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01232 esv2422237 10 91930522 92537538 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161280 S 181 1 0 HTR7 ND01566 nsv442202 10 91988396 91992471 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25739 10 91988451 91992013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13900 S 451 0 4 "" NA18517,NA18523,NA18861,NA19129 nsv825507 10 91988502 91991862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433849,nssv1431506,nssv1439076 M 31 0 3 "" AK18,NA18526,NA18973 nsv514584 10 91988544 91991720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628071 S 1414 0 1 "" esv2577640 10 92041995 92043388 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294833 S 1 0 1 "" NA18507 nsv825508 10 92055305 92055757 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425981 S 31 1 0 "" AK4 nsv467432 10 92072230 92549888 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542726 S 1557 1 0 HTR7 NINDS_59 nsv516743 10 92072995 92595099 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670579,nssv681429 M 2026 2 0 HTR7 esv23459 10 92077697 92078291 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19158 S 451 0 1 "" NA12004 nsv895886 10 92103618 92236530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527495 S 6533 1 0 "" SP58467 esv268623 10 92205013 92205353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516635,essv2516938,essv2518624,essv2518021,essv2517690,essv2519020,essv2513888,essv2518414,essv2519460 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11931,NA12287,NA12872,NA12878,NA19141,NA19143,NA19240 esv274301 10 92205013 92205353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581552,essv2581125 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv268056 10 92217460 92217790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576074,essv2540693,essv2571717,essv2546597,essv2521199,essv2526246,essv2536592,essv2523075,essv2544147,essv2571033,essv2548612,essv2553934,essv2544287,essv2520506,essv2555125,essv2537201,essv2528577,essv2546708,essv2544663,essv2538316,essv2542752,essv2524674,essv2534889,essv2549481,essv2566048,essv2531066,essv2532468,essv2567908,essv2528733,essv2567646,essv2553463,essv2535519,essv2572293,essv2555495,essv2567029,essv2566387,essv2530005,essv2527619,essv2557625,essv2556120,essv2531632,essv2573384,essv2576913,essv2535923,essv2537915,essv2548794,essv2533191,essv2554796 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA12045,NA12287,NA12414,NA12716,NA12872,NA12878,NA12891,NA12892,NA18526,NA18547,NA18550,NA18555,NA18561,NA18564,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18605,NA18608,NA18609,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18961,NA18964,NA18970 esv273389 10 92217460 92217790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581719,essv2582587,essv2583075 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2630950 10 92255577 92257117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370236 S 1 0 1 "" NA18507 esv2482480 10 92327228 92328204 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356431 S 1 1 0 "" NA18507 esv259433 10 92393950 92394248 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394199,essv2393899,essv2393722,essv2394053,essv2394278 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv259897 10 92393953 92394257 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394755,essv2399013,essv2398472,essv2401135,essv2400874,essv2399708,essv2397283,essv2401074,essv2395592,essv2397661,essv2397797,essv2396503,essv2396108,essv2396311,essv2399850,essv2398828,essv2400161,essv2394682,essv2395327,essv2394447,essv2396171,essv2395864,essv2397105,essv2400830,essv2397017,essv2398328,essv2400973,essv2395188,essv2394848,essv2399538,essv2397986,essv2399668,essv2397253,essv2395926,essv2397063,essv2400533 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11894,NA11931,NA11993,NA12828,NA12878,NA12891,NA18501,NA18502,NA18505,NA18517,NA18523,NA18558,NA18573,NA18582,NA18608,NA18870,NA18916,NA18943,NA18944,NA18945,NA18951,NA18952,NA18973,NA19093,NA19099,NA19108,NA19114,NA19137,NA19147,NA19210,NA19225,NA19238,NA19239,NA19240 esv8696 10 92393969 92394066 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31137 S 1 1 0 "" SJK esv1497998 10 92394046 92394046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161976 S 2 1 0 "" HuRef esv993525 10 92394059 92394059 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576547 S 3 1 0 "" HuRef esv5678 10 92394111 92394193 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28119 S 1 1 0 "" SJK esv9172 10 92394133 92394229 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31613 S 1 1 0 "" SJK nsv508599 10 92417511 92457695 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622731,nssv617381 M 4 0 2 "" CHM,NA18994 esv996454 10 92451107 92459771 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565162 S 3 0 1 "" HuRef esv27403 10 92451865 92455345 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20395 S 451 0 4 "" NA11931,NA12044,NA18523,NA19099 esv993643 10 92452218 92454720 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586477 S 3 0 1 "" HuRef dgv167n67 10 92453888 92455001 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825511,nsv825510 M 31 0 9 "" AK16,AK20,AK4,NA18537,NA18542,NA18564,NA18570,NA18582,NA18973 esv1001869 10 92453888 92455001 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587171 S 3 0 1 "" HuRef nsv831945 10 92580556 92783562 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448658 S 95 1 0 ANKRD1,HTR7,RPP30 esv1923742 10 92593230 92593637 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676087 S 1 0 1 HTR7 NA18507 esv26200 10 92607246 92608148 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20899 S 451 0 1 HTR7 NA07045 esv23011 10 92698743 92713486 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19293 S 451 3 0 "" NA18508,NA18909,NA19257 nsv895887 10 92781496 92826743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600934 S 6533 0 1 "" IS41948 nsv507570 10 92785506 92791506 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623243 S 4 1 0 "" NA18994 nsv525712 10 92796452 92821419 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701874 S 2026 1 0 "" esv2619018 10 92804823 92806384 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247474 S 1 0 1 "" NA18507 esv24224 10 92886827 92887576 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12856 S 451 1 0 "" NA18861 essv8570 10 92891080 92922917 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NUDT9P1 NA19130 esv29491 10 92912306 92913754 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20200 S 451 0 1 "" NA07045 nsv442203 10 92915179 92923075 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2568346 10 92958705 92960341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185409 S 1 0 1 "" NA18507 esv2023184 10 92959025 92959732 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4795462 S 1 0 1 "" NA18507 esv3751 10 92959152 92959617 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26192 S 1 0 1 Single Asian sample YH "" YH nsv24911 10 92959206 92959543 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43489 M 24 "" esv1000225 10 92959209 92959546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583004 S 3 0 1 "" HuRef esv6527 10 92959210 92959556 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28968 S 1 0 1 "" SJK esv1188971 10 92959211 92959549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229592 S 2 0 1 "" HuRef nsv825512 10 92995704 92996406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421950 S 31 0 1 PCGF5 NA18997 nsv7488 10 93146270 93179845 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2849 S 9 1 0 HECTD2,LOC100188947 NA18555 nsv7208 10 93150603 93196355 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6407,nssv9260 M 9 0 0 HECTD2,LOC100188947 NA12156,NA18517 esv2189509 10 93165542 93165996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984375 S 1 0 1 HECTD2,LOC100188947 NA18507 dgv801n71 10 93166398 93209226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895888,nsv895890,nsv895889 M 6533 0 14 HECTD2,LOC100188947 IS30179,IS30301,IS32787,IS32800,IS34386,IS35380,IS36064,IS37691,IS38116,IS38193,IS38461,IS38469,IS40292,IS40577 nsv895891 10 93166398 93259952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560213 S 6533 0 1 HECTD2,LOC100188947 MS24373 esv1003018 10 93188512 93203101 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565676 S 3 0 0 HECTD2,LOC100188947 HuRef nsv436654 10 93190133 93193995 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466610 S 2 0 0 Samples from several populations that are part of the HapMap project. HECTD2,LOC100188947 NA18505 esv2421381 10 93190358 93193126 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059378,essv5044444,essv5053650,essv5059865,essv5129822,essv5140963,essv5135767,essv5137124,essv5082345,essv5009328,essv5064944,essv5077631,essv5015081,essv5119628,essv5108168,essv5104612,essv5053646,essv5107190,essv5085059,essv5109532,essv5037788,essv5046620,essv5092531,essv5036987,essv5150368,essv5049836,essv5086631,essv5041715,essv5121030,essv5011170,essv5044317,essv5121685,essv5004892,essv5068063,essv5100610,essv5041487,essv5038263,essv5068466,essv5132630,essv5126177,essv5145837,essv5026903,essv5006300,essv5088211,essv5027967,essv5042378,essv5110182,essv5155768,essv5077424,essv5052708,essv5058828,essv5099710,essv5158390,essv5075133,essv5080797,essv5002604,essv5037948,essv5039149,essv5120030,essv5027880,essv5012497,essv5151605,essv5110729,essv5066562,essv5073014,essv5065919,essv5142122,essv5109101 M 1184 68 0 HECTD2,LOC100188947 NA07345,NA19107,NA19113,NA19776,NA20759,NA20876,NA21105,NA21295,NA21314,NA21333,NA21336,NA21339,NA21352,NA21356,NA21364,NA21367,NA21368,NA21371,NA21378,NA21408,NA21417,NA21418,NA21420,NA21421,NA21434,NA21436,NA21448,NA21457,NA21473,NA21509,NA21510,NA21517,NA21519,NA21520,NA21521,NA21529,NA21574,NA21575,NA21576,NA21577,NA21582,NA21587,NA21596,NA21597,NA21611,NA21613,NA21616,NA21617,NA21619,NA21620,NA21632,NA21650,NA21682,NA21683,NA21689,NA21693,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21825,NA21826 nsv433413 10 93191127 93197951 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463294 S 9 1 0 Samples from several populations that are part of the HapMap project. HECTD2,LOC100188947 NA12156 esv1767604 10 93191655 93197436 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836360 S 2 0 0 HECTD2,LOC100188947 HuRef esv33149 10 93193518 93201638 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96359 S 51 0 1 HECTD2,LOC100188947 22371 esv23967 10 93295194 93351570 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19622 S 451 1 0 LOC100188947 NA12156 esv2323420 10 93385900 93386380 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845964 S 1 0 1 "" NA18507 nsv895892 10 93422612 93460147 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499644 S 6533 1 0 "" SP50179 nsv7489 10 93489806 93523207 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5305 S 9 1 0 "" NA19129 esv1286436 10 93490770 93490770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652111 S 2 1 0 "" HuRef nsv7491 10 93616172 93661674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6408 S 9 0 1 FGFBP3 NA12156 nsv511445 10 93617138 93625521 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626058 S 1 0 1 "" 1 esv259768 10 93620923 93621277 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398786,essv2401108,essv2399822,essv2396038,essv2394470,essv2398104,essv2396596,essv2399269,essv2400633,essv2396520,essv2395030,essv2397444,essv2396128,essv2398400,essv2396295,essv2400844,essv2397188,essv2396878,essv2398948,essv2395735,essv2399489,essv2400113,essv2394696,essv2397099,essv2395131,essv2395821,essv2399638,essv2397391,essv2398389,essv2400983,essv2395207,essv2396431,essv2398706 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA11994,NA12003,NA12045,NA12144,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18523,NA18552,NA18558,NA18564,NA18572,NA18579,NA18603,NA18853,NA18858,NA18861,NA18870,NA18951,NA18953,NA18961,NA18964,NA18980,NA19093,NA19099,NA19108,NA19138,NA19190 esv2622548 10 93622562 93624942 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225304 S 1 0 1 "" NA18507 esv2238865 10 93623176 93624723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652326 S 1 0 1 "" NA18507 nsv512175 10 93623259 93624642 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624740 S 1 0 1 "" 1 esv3943 10 93623263 93624652 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26384 S 1 0 1 Single Asian sample YH "" YH esv6248 10 93623321 93624541 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28689 S 1 0 1 "" SJK esv21793 10 93623391 93624515 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13104 S 451 26 0 "" NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190 nsv821499 10 93623391 93624515 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420890 S 1 0 1 "" NA10851 nsv825513 10 93623391 93624605 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430778,nssv1430011,nssv1427130,nssv1428208,nssv1437631,nssv1441306,nssv1434752,nssv1425983,nssv1431507,nssv1433039,nssv1435284,nssv1429264,nssv1427687,nssv1426898,nssv1423615,nssv1436871,nssv1434592,nssv1436043,nssv1428494,nssv1428656 M 31 4 16 "" AK10,AK12,AK14,AK16,AK18,AK4,AK6,AK8,NA18542,NA18547,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18999 nsv820200 10 93623729 93624635 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419117 S 2 1 0 "" AK1 nsv825514 10 93624008 93624605 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439078 S 31 0 1 "" NA18973 esv22161 10 93658078 93658710 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18192 S 451 0 1 FGFBP3 NA07045 nsv895893 10 93737240 93865244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524395,nssv1522857 M 6533 2 0 BTAF1,CPEB3 SP53471,SP55007 nsv508600 10 94105005 94221897 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620125 S 4 0 1 IDE,MARK2P9 NA15510 nsv7492 10 94105187 94128443 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1905 S 9 0 1 "" NA18555 esv2575554 10 94123551 94127847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203966 S 1 0 1 "" NA18507 esv1009764 10 94124234 94129304 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565567 S 3 0 1 "" HuRef esv2172753 10 94124436 94127808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586452 S 1 0 1 "" NA18507 nsv512176 10 94124483 94127741 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624741 S 1 0 1 "" 1 esv3467 10 94124542 94127694 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25908 S 1 0 1 Single Asian sample YH "" YH nsv510232 10 94124547 94130547 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624195,nssv622275 M 4 0 2 "" NA10860,NA18994 nsv498737 10 94124579 94127600 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586285 S 9 0 1 "" esv8892 10 94124581 94127633 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31333 S 1 0 1 "" SJK nsv24401 10 94124595 94127633 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42979 M 24 "" esv2421959 10 94153458 94160827 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5119240,essv5072487,essv5140135,essv5092247,essv5035776,essv5098491,essv5040000,essv5145963,essv5144290,essv5113250,essv5059647,essv5159050,essv5038206,essv5097448,essv5043121,essv5140435 M 1184 0 16 "" NA17983,NA18107,NA18133,NA18157,NA18552,NA18566,NA18577,NA18603,NA18609,NA18628,NA18642,NA18682,NA18974,NA19472,NA21689,NA21722 nsv442204 10 94153462 94160827 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv825515 10 94153660 94155180 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429265 S 31 0 1 "" AK12 nsv825516 10 94153660 94157171 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422796,nssv1436044 M 31 0 2 "" NA18552,NA18566 nsv514585 10 94153880 94154248 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628072 S 1414 0 1 "" nsv516471 10 94157067 94160831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660883,nssv668578 M 2026 0 2 "" nsv895894 10 94239962 94442410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598883 S 6533 0 1 HHEX,IDE,KIF11 IS41317 nsv895895 10 94294112 94362686 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574661 S 6533 1 0 IDE,KIF11 IS33601 dgv168n67 10 94387129 94462489 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825518,nsv825517 M 31 2 0 HHEX,KIF11 NA18969,NA18973 dgv802n71 10 94419506 94450630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895896,nsv895897 M 6533 0 4 HHEX SP51109,SP54956,SP55021,SP56223 esv29580 10 94439188 94440465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16663 S 451 0 1 HHEX NA07037 esv269637 10 94561266 94561558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503224,essv2495290,essv2499405,essv2513172,essv2495866,essv2503437,essv2508517,essv2508883,essv2500278 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11992,NA11994,NA12249,NA12489,NA12716,NA12717,NA12878,NA12891 esv273780 10 94561285 94561365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582233,essv2582598 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv895898 10 94618254 94800655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548903 S 6533 0 1 EXOC6 MS17909 nsv515937 10 94650113 94715488 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679213,nssv705699,nssv669234,nssv665380 M 2026 4 0 EXOC6 nsv518124 10 94650113 94768263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695542 S 2026 0 1 EXOC6 nsv522103 10 94650113 94800655 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694875 S 2026 1 0 EXOC6 nsv467434 10 94658504 94715488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542727 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EXOC6 HGDP00150 nsv467435 10 94706293 94769530 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542728 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EXOC6 HGDP00766 nsv24948 10 94724328 94724328 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43526 M 24 EXOC6 esv1627699 10 94725626 94725626 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625916 S 2 1 0 EXOC6 HuRef esv2336668 10 94731964 94732386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636762 S 1 0 1 EXOC6 NA18507 nsv7493 10 94784268 94792017 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4624 S 9 0 1 EXOC6 NA19129 esv997943 10 94793978 94794823 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563466 S 3 1 0 EXOC6 HuRef nsv895899 10 94808372 94826425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510813 S 6533 0 1 CYP26A1,CYP26C1,EXOC6 SP54988 nsv895900 10 94986512 95043561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506393 S 6533 0 1 "" SP54294 esv270129 10 94992460 94992545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515683 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv525005 10 95012580 95013916 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701040 S 2026 0 1 "" nsv819743 10 95031822 95035787 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419594 S 2 0 1 "" AK1 nsv825519 10 95031903 95035675 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428219,nssv1433040 M 31 0 2 "" NA18968,NA18972 nsv7494 10 95065857 95100861 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3888 S 9 1 0 MYOF NA12878 nsv24721 10 95088682 95097305 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43299 M 24 MYOF nsv507571 10 95144233 95150233 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619201,nssv620651,nssv617807 M 4 3 0 MYOF CHM,NA10860,NA15510 nsv825521 10 95266817 95268276 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421951 S 31 0 1 CEP55 NA18997 esv21639 10 95378735 95380045 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13549 S 451 1 0 PDE6C NA12156 nsv825522 10 95406129 95406996 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421953 S 31 0 1 PDE6C NA18997 nsv522686 10 95430276 95461328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706096 S 2026 0 1 FRA10AC1 esv29301 10 95451465 95452354 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17269 S 451 0 1 FRA10AC1 NA12776 esv3643 10 95535310 95536625 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26084 S 1 0 1 Single Asian sample YH LGI1 YH nsv511446 10 95535368 95538433 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626059 S 1 0 1 LGI1 1 nsv512177 10 95535410 95536635 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624742 S 1 0 1 LGI1 1 esv8599 10 95535459 95536498 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31040 S 1 0 1 LGI1 SJK esv24084 10 95535502 95536297 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14091 S 451 19 0 LGI1 NA12489,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821312 10 95535502 95536446 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420892 S 1 0 1 LGI1 NA10851 nsv825523 10 95535502 95536908 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425179,nssv1434593,nssv1437632,nssv1430780,nssv1428230,nssv1433850,nssv1440529,nssv1432268,nssv1434763,nssv1422798,nssv1438321,nssv1433042,nssv1431509,nssv1429266,nssv1421955,nssv1427688,nssv1424412,nssv1426899,nssv1439857,nssv1436045,nssv1428668,nssv1428497,nssv1436872,nssv1439080 M 31 0 24 LGI1 AK10,AK12,AK16,AK18,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997 nsv825524 10 95535526 95536446 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427252,nssv1430012,nssv1435286 M 31 0 3 LGI1 AK14,NA18547,NA18942 esv24267 10 95584288 95599218 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17869,esv13320,esv10835,esv14209 M 451 6 0 "" NA12044,NA12156,NA18909,NA19190,NA19225,NA19257 esv270256 10 95622972 95623157 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496602,essv2496798,essv2511792,essv2493153,essv2494831,essv2506176,essv2505292,essv2494106,essv2501271,essv2504619,essv2499085,essv2498882,essv2497107 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18498,NA18499,NA18504,NA18519,NA18523,NA18853,NA18871,NA19093,NA19099,NA19114,NA19138,NA19190 esv1374316 10 95664104 95664104 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756292 S 2 1 0 "" HuRef nsv7495 10 95671679 95736787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10773,nssv8830 M 9 2 0 PIPSL NA12156,NA18956 nsv825525 10 95808686 95809220 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421956 S 31 0 1 PLCE1 NA18997 esv1967938 10 95843498 95844197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497119 S 1 0 1 PLCE1 NA18507 esv259526 10 95931505 95931834 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393976,essv2394306 M 6 0 0 Samples from several populations that are part of the HapMap project. PLCE1 NA19239,NA19240 esv259683 10 95931511 95931851 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398257,essv2397606,essv2395593,essv2395715,essv2396328,essv2399556,essv2400446,essv2398226,essv2395332,essv2397513,essv2398292,essv2395177,essv2396416,essv2398124,essv2397208,essv2397022,essv2400494 M 144 0 0 Samples from several populations that are part of the HapMap project. PLCE1 NA12763,NA18489,NA18501,NA18532,NA18558,NA18570,NA18592,NA18909,NA18916,NA18947,NA19093,NA19108,NA19138,NA19172,NA19225,NA19239,NA19240 esv275010 10 95968387 95972792 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586118,essv2586098 M 1250 1 1 PLCE1 nsv831946 10 96045180 96216428 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448659 S 95 0 1 NOC3L,PLCE1,TBC1D12 esv272131 10 96084521 96084831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504185,essv2496186,essv2501422,essv2502082 M 157 4 0 Samples from several populations that are part of the HapMap project. NOC3L NA18505,NA18511,NA19093,NA19257 esv2480129 10 96103219 96104539 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169195 S 1 0 1 NOC3L NA18507 esv25061 10 96152401 96153336 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14459 S 451 0 1 TBC1D12 NA07045 esv5036 10 96230966 96231267 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27477 S 1 0 1 Single Asian sample YH TBC1D12 YH esv4632 10 96241479 96241758 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27073 S 1 0 1 Single Asian sample YH TBC1D12 YH nsv517681 10 96333218 96377069 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676679,nssv652833 M 2026 2 0 HELLS nsv522538 10 96395319 96537453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705915 S 2026 0 1 CYP2C18,CYP2C19 nsv7496 10 96404798 96436667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3889 S 9 1 0 CYP2C18 NA12878 nsv895901 10 96476494 96555640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587603 S 6533 0 1 CYP2C18,CYP2C19 IS38069 nsv895902 10 96490096 96609015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557079 S 6533 0 1 CYP2C19 MS22353 nsv516555 10 96524574 96537453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669131,nssv685574 M 2026 0 2 CYP2C19 nsv523259 10 96524574 96683717 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698991 S 2026 1 0 CYP2C19 dgv803n71 10 96538122 96599054 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895904,nsv895903 M 6533 0 3 CYP2C19 SP50063,SP52122,SP56331 nsv820156 10 96594464 96601199 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419791 S 2 0 1 CYP2C19 AK1 nsv7497 10 96724250 96758557 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3890 S 9 1 0 CYP2C9 NA12878 esv272027 10 96753940 96754025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517080,essv2514972,essv2518118,essv2513934 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12812,NA12872,NA19143 nsv467436 10 96795361 96852276 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542729 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP2C8 HGDP00622 esv22688 10 96845996 97064746 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21432,esv15617,esv15160,esv11975,esv9778 M 451 1 15 C10orf129,PDLIM1,SORBS1 NA07037,NA07045,NA11894,NA12156,NA12878,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA19099,NA19108,NA19190,NA19225,NA19257 nsv7498 10 96847884 96871930 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6409 S 9 0 1 "" NA12156 nsv437691 10 96854795 96866686 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467572 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19202 nsv436103 10 96856641 96865152 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466611 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498738 10 96857182 96864933 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586296 S 9 0 1 "" nsv825526 10 96860966 96862718 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430014,nssv1441309,nssv1440531,nssv1429267,nssv1425180,nssv1424413,nssv1439858 M 31 0 7 "" AK12,AK14,AK2,NA18537,NA18564,NA18582,NA18969 nsv514586 10 96861248 96862576 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628073 S 1414 0 1 "" nsv517863 10 96894047 96918692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694174 S 2026 0 1 "" nsv825527 10 96944211 96944650 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424414 S 31 1 0 C10orf129 NA18582 nsv820063 10 96944267 96944885 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419028 S 2 1 0 C10orf129 AK1 esv4805 10 97196940 97198229 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27246 S 1 1 0 Single Asian sample YH SORBS1 YH nsv512178 10 97196975 97200781 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624743 S 1 0 1 SORBS1 1 esv5409 10 97197002 97198155 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27850 S 1 0 1 Single Asian sample YH SORBS1 YH esv9481 10 97197047 97198011 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31922 S 1 0 1 SORBS1 SJK esv2494950 10 97197580 97198532 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323576 S 1 1 0 SORBS1 NA18507 esv272336 10 97197886 97198085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579361 S 7 1 0 Samples from several populations that are part of the HapMap project. SORBS1 NA19239 esv268720 10 97197985 97198101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500235,essv2512445,essv2508365,essv2508849,essv2494336,essv2504298,essv2493750,essv2512998,essv2499968,essv2508313,essv2507595,essv2508093,essv2508699,essv2498513,essv2505876,essv2507043,essv2495542,essv2512313,essv2493036,essv2500814,essv2505601,essv2501302,essv2506602,essv2497545,essv2493851,essv2501771,essv2502265 M 157 27 0 Samples from several populations that are part of the HapMap project. SORBS1 NA12006,NA12043,NA12749,NA12878,NA18502,NA18505,NA18517,NA18547,NA18558,NA18561,NA18576,NA18579,NA18592,NA18858,NA18861,NA18870,NA18916,NA18949,NA18951,NA18973,NA19005,NA19093,NA19108,NA19147,NA19210,NA19239,NA19257 nsv524227 10 97314117 97318217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700116 S 2026 0 1 "" nsv526180 10 97322185 97501027 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702442 S 2026 1 0 ALDH18A1,ENTPD1,TCTN3 nsv526761 10 97426383 97428813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703112 S 2026 0 1 TCTN3 nsv7499 10 97444260 97467501 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv960 S 9 1 0 ENTPD1 NA19240 dgv804n71 10 97503352 97714237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895905,nsv895908,nsv895906,nsv895907 M 6533 0 4 C10orf131,ENTPD1,LOC728558 IS33747,MS13011,MS20041,SP50753 esv268276 10 97520181 97520518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514938 S 157 1 0 Samples from several populations that are part of the HapMap project. ENTPD1,LOC728558 NA12812 nsv7500 10 97536626 97569761 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1906 S 9 1 0 ENTPD1,LOC728558 NA18555 nsv507572 10 97553156 97559156 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619205,nssv620655 M 4 2 0 ENTPD1,LOC728558 NA10860,NA15510 nsv825528 10 97589487 97590723 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421957 S 31 0 1 ENTPD1,LOC728558 NA18997 esv273660 10 97658493 97658824 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582170,essv2582720 M 7 2 0 Samples from several populations that are part of the HapMap project. C10orf131,LOC728558 NA12878,NA12891 esv269705 10 97658494 97658823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575975,essv2546625,essv2542492,essv2536476,essv2544058,essv2556813,essv2568289,essv2545322,essv2577427,essv2548497,essv2576630,essv2535092,essv2553954,essv2558539,essv2564552,essv2576181,essv2554924,essv2530890,essv2561931,essv2537416,essv2528506,essv2578718,essv2527375,essv2552855,essv2524618,essv2549443,essv2530998,essv2563755,essv2541985,essv2543755,essv2562393,essv2574006,essv2574782,essv2548653,essv2554489,essv2547672,essv2524869,essv2563146 M 157 38 0 Samples from several populations that are part of the HapMap project. C10orf131,LOC728558 NA07037,NA07346,NA07347,NA07357,NA10847,NA11830,NA11881,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12043,NA12045,NA12154,NA12249,NA12287,NA12750,NA12751,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA18510,NA18522,NA18542,NA18555,NA18564,NA18573,NA18603,NA18856,NA18870,NA18909,NA18951,NA19138 nsv25405 10 97673016 97676562 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43983 M 24 C10orf131,LOC728558 nsv825529 10 97810136 97810590 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441310 S 31 0 1 CCNJ,LOC728558 NA18969 nsv831947 10 97835156 98007915 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448661,nssv1448660 M 95 1 1 BLNK,LOC728558,ZNF518A nsv831949 10 97917584 98135692 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448663 S 95 1 0 BLNK,DNTT,OPALIN,TLL2 dgv29n17 10 97937031 97947314 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437128,nsv437129 M 60 0 2 BLNK NA10831,NA10846 nsv831950 10 98070962 98235424 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448664 S 95 1 0 DNTT,OPALIN,TLL2 nsv509362 10 98154683 98190804 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623736 S 4 1 0 TLL2 NA18994 esv2622954 10 98165243 98165925 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206798 S 1 1 0 TLL2 NA18507 esv1243485 10 98165509 98165509 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098498 S 2 1 0 TLL2 HuRef nsv513012 10 98188768 98188980 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625670 S 1 1 0 TLL2 1 nsv825530 10 98293811 98294470 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436873 S 31 0 1 TM9SF3 NA18542 esv1534879 10 98307213 98307213 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885230 S 2 1 0 TM9SF3 HuRef nsv509363 10 98330935 98427880 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623740 S 4 1 0 PIK3AP1,TM9SF3 NA18994 nsv895909 10 98344914 98372155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508902 S 6533 1 0 PIK3AP1 SP54652 nsv7502 10 98374693 98419495 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8831 S 9 0 1 PIK3AP1 NA12156 nsv895910 10 98376473 98630984 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508844 S 6533 1 0 LCOR,PIK3AP1 SP54652 nsv25166 10 98379473 98379656 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43744 M 24 PIK3AP1 nsv7503 10 98398112 98428643 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5306 S 9 1 0 PIK3AP1 NA19129 esv272984 10 98408543 98408649 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580686,essv2579536 M 7 2 0 Samples from several populations that are part of the HapMap project. PIK3AP1 NA19238,NA19240 nsv895911 10 98417039 98459683 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541602 S 6533 1 0 PIK3AP1 MS15385 nsv508601 10 98427880 98524311 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618957 S 4 0 1 PIK3AP1 NA10860 esv2650890 10 98526807 98528457 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348762 S 1 0 1 "" NA18507 esv2076419 10 98526937 98527621 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821657 S 1 0 1 "" NA18507 esv1008017 10 98532349 98532398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567482 S 3 0 1 "" HuRef esv1691614 10 98532449 98532499 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252082 S 2 0 1 "" HuRef esv1640225 10 98545654 98546383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136459 S 2 0 1 "" HuRef esv7350 10 98549995 98550056 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29791 S 1 1 0 "" SJK nsv7504 10 98551104 98558100 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8832 S 9 1 0 "" NA12156 nsv825532 10 98557424 98608024 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439081 S 31 1 0 LCOR NA18973 nsv527351 10 98657519 98663797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703780 S 2026 0 1 LCOR esv2401890 10 98686292 98686737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893861 S 1 0 1 LCOR NA18507 esv2588205 10 98686475 98686549 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176464 S 1 0 1 LCOR NA18507 nsv831951 10 98707093 98751270 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448665 S 95 1 0 C10orf12,LCOR,SLIT1 essv12626 10 98779953 98952462 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARHGAP19-SLIT1,LOC100505540,SLIT1 NA18500 nsv895912 10 98784605 98828684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530686 S 6533 0 1 SLIT1 MS10311 nsv7505 10 98805835 98840597 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3891 S 9 1 0 SLIT1 NA12878 esv995571 10 98823023 98830390 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565051 S 3 0 1 SLIT1 HuRef nsv895913 10 98844400 98874392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578955 S 6533 0 1 LOC100505540,SLIT1 IS34996 esv1638639 10 98891428 98891483 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965064 S 2 0 1 SLIT1 HuRef nsv7506 10 98892430 98930199 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6410 S 9 0 1 ARHGAP19-SLIT1,SLIT1 NA12156 nsv433513 10 98960654 98966913 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463394 S 9 0 1 Samples from several populations that are part of the HapMap project. ARHGAP19-SLIT1 NA18956 nsv831952 10 98988334 99135914 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448667,nssv1448666,nssv1448670,nssv1448669,nssv1448668 M 95 0 5 ARHGAP19,ARHGAP19-SLIT1,FRAT1,FRAT2,RRP12 nsv895914 10 98996073 99121666 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523692 S 6533 1 0 ARHGAP19,ARHGAP19-SLIT1,FRAT1,FRAT2,RRP12 SP54139 nsv7507 10 99021223 99060680 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6411 S 9 0 1 ARHGAP19,ARHGAP19-SLIT1 NA12156 esv1003170 10 99023396 99027649 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563832 S 3 0 1 ARHGAP19,ARHGAP19-SLIT1 HuRef esv2429720 10 99024324 99028246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179409 S 1 0 1 ARHGAP19,ARHGAP19-SLIT1 NA18507 esv2304672 10 99024672 99027588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916981 S 1 0 1 ARHGAP19,ARHGAP19-SLIT1 NA18507 nsv512179 10 99024764 99027384 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624745 S 1 0 1 ARHGAP19,ARHGAP19-SLIT1 1 esv5077 10 99024827 99027505 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27518 S 1 0 1 Single Asian sample YH ARHGAP19,ARHGAP19-SLIT1 YH esv6307 10 99024857 99027386 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28748 S 1 0 1 ARHGAP19,ARHGAP19-SLIT1 SJK esv1001501 10 99024857 99027390 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574182 S 3 0 1 ARHGAP19,ARHGAP19-SLIT1 HuRef esv1315028 10 99024863 99027397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127672 S 2 0 1 ARHGAP19,ARHGAP19-SLIT1 HuRef dgv169n67 10 99060560 99105589 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825534,nsv825533 M 31 2 0 FRAT1,FRAT2 NA18969,NA18973 esv29863 10 99081969 99082622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15055 S 451 0 1 FRAT2 NA18916 esv2571727 10 99097994 99099451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361789 S 1 0 1 "" NA18507 esv2057448 10 99098101 99098779 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553584 S 1 0 1 "" NA18507 esv9289 10 99098277 99098608 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31730 S 1 0 1 "" SJK nsv25080 10 99098282 99098607 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43658 M 24 "" dgv119n27 10 99105673 99163860 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467437,nsv467438 M 1557 0 2 RRP12 1780862019_A,HGDP01060 nsv825535 10 99123663 99128965 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441312 S 31 1 0 RRP12 NA18969 nsv467440 10 99124774 99194781 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542733 S 1557 0 1 EXOSC1,PGAM1,RRP12 NINDS_22 nsv7508 10 99275365 99320491 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5307 S 9 0 1 UBTD1 NA19129 esv1218822 10 99278472 99278522 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080269 S 2 0 1 UBTD1 HuRef esv992861 10 99288842 99295964 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563932 S 3 0 1 UBTD1 HuRef nsv7509 10 99307580 99336642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3892 S 9 1 0 ANKRD2,HOGA1,UBTD1 NA12878 nsv818782 10 99327562 99340118 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415984 S 112 0 1 ANKRD2,C10orf62,HOGA1 NA12750 nsv519864 10 99468071 99476634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697091 S 2026 0 1 "" esv272632 10 99486268 99486950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581515 S 7 1 0 Samples from several populations that are part of the HapMap project. ZFYVE27 NA12878 nsv819567 10 99619002 99619561 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419002 S 2 1 0 CRTAC1,GOLGA7B AK1 nsv7510 10 99633130 99665140 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10775 S 9 1 0 CRTAC1 NA18956 nsv509364 10 99634429 99686499 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619737 S 4 1 0 CRTAC1 NA10860 nsv513013 10 99649700 99651082 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625671 S 1 1 0 CRTAC1 1 nsv25263 10 99650207 99650270 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43841 M 24 CRTAC1 nsv831953 10 99658014 99826839 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448671 S 95 1 0 CRTAC1 esv270898 10 99727227 99727577 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504275,essv2509667,essv2494898,essv2505223,essv2505927,essv2507375,essv2499139 M 157 7 0 Samples from several populations that are part of the HapMap project. CRTAC1 NA18505,NA18508,NA18520,NA18853,NA18861,NA18912,NA19114 esv2534098 10 99794132 99794338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317259 S 1 0 1 "" NA18507 esv1676948 10 99794193 99794193 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307283 S 2 1 0 "" HuRef esv1011312 10 99805241 99812340 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565028 S 3 0 1 "" HuRef essv17399 10 99824786 99841072 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18855 essv10706 10 99824786 99883943 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18508 nsv442205 10 99824936 99827390 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421829 10 99824936 99827392 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132133,essv5087359,essv5076491,essv5132033,essv5039399,essv5160424,essv5051834,essv5157477,essv5056275,essv5150394,essv5081920,essv5098521,essv5090599,essv5068269,essv5064562,essv5012437,essv5155582,essv5054370,essv5045010,essv5112741,essv5078266,essv5010791,essv5153610,essv5091997,essv5049663,essv5147916,essv5049845,essv5017109,essv5022408,essv5024955,essv5105123,essv5011369,essv5108423,essv5018959,essv5076411,essv5083571,essv5141017,essv5003568,essv5005119,essv5101681,essv5046881,essv5043683,essv5135204,essv5155738,essv5146911,essv5097864,essv5099281,essv5028527,essv5152028,essv5070479,essv5044314,essv5013417,essv5145216,essv5041414,essv5157761,essv5090472,essv5058363,essv5034138,essv5003735,essv5023293,essv5062385,essv5090491,essv5072440,essv5128270,essv5002273,essv5109392,essv5025128,essv5126417,essv5137865,essv5140088,essv5009196,essv5103007,essv5065321,essv5146169,essv5059956,essv5130639,essv5084679,essv5007277,essv5125913,essv5043118,essv5050494,essv5110798,essv5080524,essv5072758,essv5117921,essv5157105,essv5008895,essv5108301,essv5020741,essv5024625,essv5088061,essv5141198,essv5028110,essv5088525,essv5098095,essv5116202,essv5150323,essv5038686,essv5118271,essv5124813,essv5082077,essv5010218,essv5136334,essv5135940,essv5131801,essv5088195,essv5031480,essv5100252,essv5019665,essv5064902,essv5125855,essv5153967,essv5137692,essv5123356,essv5145545,essv5133277,essv5040337,essv5108530,essv5115493,essv5126581,essv5147773,essv5092099,essv5157019,essv5122777,essv5062226,essv5104153,essv5057009,essv5017102,essv5069179,essv5160585,essv5009862,essv5082152,essv5011356,essv5157693,essv5053799,essv5069390,essv5123086,essv5062046,essv5061997,essv5142607,essv5041472,essv5014639,essv5008697,essv5049331,essv5050420,essv5008770,essv5038064,essv5029004,essv5068431,essv5073054,essv5054872,essv5071734,essv5094877,essv5129121,essv5116241,essv5136787,essv5006357,essv5032242,essv5017059,essv5018538,essv5082020,essv5153276,essv5032953,essv5136119,essv5080119 M 1184 0 165 "" NA06991,NA06993,NA06994,NA07000,NA07022,NA07029,NA07055,NA07056,NA07345,NA07348,NA07357,NA10835,NA10838,NA10839,NA10846,NA10847,NA10854,NA10855,NA10861,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11882,NA11992,NA11993,NA11994,NA11995,NA12006,NA12145,NA12154,NA12155,NA12156,NA12234,NA12248,NA12264,NA12740,NA12750,NA12751,NA12752,NA12761,NA12762,NA12763,NA12801,NA12802,NA12814,NA12815,NA12864,NA12865,NA12872,NA12891,NA12892,NA18501,NA18504,NA18505,NA18506,NA18508,NA18515,NA18524,NA18526,NA18532,NA18542,NA18545,NA18550,NA18555,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18594,NA18603,NA18605,NA18608,NA18609,NA18620,NA18622,NA18623,NA18624,NA18633,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18858,NA18859,NA18862,NA18871,NA18872,NA18912,NA18913,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18970,NA18971,NA18972,NA18973,NA18975,NA18976,NA18981,NA18987,NA18994,NA18998,NA19000,NA19093,NA19101,NA19102,NA19103,NA19119,NA19127,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19141,NA19142,NA19144,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19193,NA19194,NA19202,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19238,NA19239 esv25796 10 99825154 99827464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19041 S 451 0 2 "" NA18508,NA18909 esv267752 10 99887670 99887812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504162,essv2505289,essv2499096 M 157 3 0 Samples from several populations that are part of the HapMap project. C10orf28 NA18505,NA18853,NA19114 nsv831954 10 99922562 100111024 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448672,nssv1448674 M 95 0 2 C10orf28,LOXL4 nsv515723 10 100138166 100184819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683458,nssv679417,nssv668327,nssv701731,nssv664560,nssv697367,nssv705981 M 2026 0 7 HPS1,MIR1287,MIR4685,PYROXD2 nsv895915 10 100145953 100184031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530687 S 6533 0 1 HPS1,MIR4685,PYROXD2 MS10311 nsv831955 10 100151884 100341805 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448675 S 95 1 0 HPS1,HPSE2,MIR4685,PYROXD2 esv2049452 10 100157324 100157727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684189 S 1 0 1 PYROXD2 NA18507 nsv524427 10 100158362 100202364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700354 S 2026 0 1 HPS1,MIR4685,PYROXD2 nsv831956 10 100233688 100388795 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448686,nssv1448682,nssv1448678,nssv1448676,nssv1448677,nssv1448679,nssv1448681,nssv1448680,nssv1448683,nssv1448687,nssv1448685,nssv1448689,nssv1448688,nssv1448690,nssv1448691,nssv1448692,nssv1448693 M 95 0 17 HPSE2 nsv517710 10 100237580 100256082 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705513,nssv703595,nssv668655,nssv690232,nssv652919,nssv705767 M 2026 5 1 HPSE2 nsv520353 10 100240176 100276037 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697368 S 2026 1 0 HPSE2 nsv7511 10 100245971 100283917 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8833 S 9 0 1 HPSE2 NA12156 esv1004375 10 100276479 100281398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564583 S 3 0 1 HPSE2 HuRef nsv7209 10 100283176 100302543 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3894 S 9 0 0 HPSE2 NA12878 esv1474285 10 100296901 100296901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136212 S 2 1 0 HPSE2 HuRef esv23306 10 100324277 100334550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17021,esv13896,esv15923 M 451 0 4 HPSE2 NA11894,NA12044,NA18502,NA19129 esv25039 10 100365766 100368956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16392 S 451 0 1 HPSE2 NA18505 esv2482496 10 100436994 100438370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311800 S 1 0 1 HPSE2 NA18507 esv2448524 10 100484069 100485106 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304437 S 1 0 0 HPSE2 NA18507 nsv436692 10 100484905 100486316 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466612 S 2 0 0 Samples from several populations that are part of the HapMap project. HPSE2 NA18505 nsv513014 10 100484954 100485045 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625672 S 1 1 0 HPSE2 1 nsv831957 10 100582502 100767158 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448694 S 95 1 0 HPSE2 nsv507573 10 100617102 100623102 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623255 S 4 1 0 HPSE2 NA18994 nsv825536 10 100619830 100622743 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429268 S 31 0 1 HPSE2 AK12 nsv825537 10 100636217 100637981 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421958 S 31 0 1 HPSE2 NA18997 nsv508602 10 100657415 100712881 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620135 S 4 0 1 HPSE2 NA15510 nsv7513 10 100661762 100714472 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9803,nssv3895,nssv5308,nssv9261 M 9 0 4 HPSE2 NA12878,NA18507,NA18517,NA19129 esv32597 10 100672444 100686782 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101454,essv93905,essv100943,essv98181,essv94799,essv94132,essv101287,essv96966,essv97916,essv95300,essv94641,essv99134,essv92801,essv99983,essv96013,essv93338,essv99680,essv92560,essv99245,essv97771,essv100534,essv100295,essv96367,essv94179 M 51 22 2 HPSE2 21603,21634,21693,21772,21791,21802,21805,21817,21837,21872,21932,21938,21944,22086,22127,22170,22217,22233,22275,22278,22298,22300,22371,22394 dgv8n50 10 100675098 100694587 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511454,nsv512180 M 1 0 1 HPSE2 1 esv2522473 10 100676059 100694540 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195967 S 1 0 1 HPSE2 NA18507 esv26720 10 100676430 100693732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20784,esv12057,esv19705 M 451 0 15 HPSE2 NA06985,NA12878,NA15510,NA18502,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225 nsv498739 10 100677875 100692347 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586307 S 9 0 1 HPSE2 nsv825538 10 100678617 100686987 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437633,nssv1434594,nssv1427689 M 31 0 3 HPSE2 AK8,NA18570,NA18949 nsv514537 10 100678816 100679432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628074 S 1414 0 1 HPSE2 nsv436820 10 100681028 100735926 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466613 S 2 1 0 Samples from several populations that are part of the HapMap project. HPSE2 NA18505 nsv518822 10 100694678 100703080 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696274 S 2026 1 0 HPSE2 nsv521748 10 100814477 100831978 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694515 S 2026 1 0 HPSE2 nsv7514 10 100954377 100999125 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8834 S 9 0 1 HPSE2 NA12156 esv1499515 10 101001342 101001342 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795831 S 2 1 0 "" HuRef esv2465897 10 101005283 101006368 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341894 S 1 1 0 "" NA18507 esv272355 10 101025202 101025558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580733,essv2579736 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267755 10 101025218 101025568 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509806,essv2496267,essv2494711,essv2500974,essv2509189,essv2511992,essv2498057 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18511,NA18519,NA18856,NA18909,NA19238,NA19240 nsv831958 10 101201051 101401171 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448696 S 95 1 0 NKX2-3,SLC25A28 esv23130 10 101248881 101253130 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18436 S 451 1 0 "" NA11995 esv27523 10 101272685 101274666 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13380 S 451 0 1 "" NA18858 esv2592153 10 101330073 101330576 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309654 S 1 1 0 "" NA18507 nsv7515 10 101356405 101389186 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv961 S 9 1 0 SLC25A28 NA19240 nsv7516 10 101426384 101458184 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8835 S 9 0 1 ENTPD7 NA12156 esv24363 10 101435693 101436966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16092 S 451 0 2 ENTPD7 NA18517,NA18916 dgv805n71 10 101533037 101577921 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895919,nsv895920,nsv895916 M 6533 0 8 ABCC2 IS30127,IS32891,IS35701,IS37639,IS40902,MS19303,MS19582,MS21868 nsv895917 10 101534720 101543249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543246 S 6533 0 1 ABCC2 MS16122 nsv895918 10 101535548 101562298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601222 S 6533 0 1 ABCC2 IS41984 nsv825539 10 101567137 101629862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435287 S 31 0 1 ABCC2,DNMBP NA18942 nsv825540 10 101568803 101626646 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439083 S 31 1 0 ABCC2,DNMBP NA18973 nsv831960 10 101583591 101745195 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448697 S 95 1 0 ABCC2,DNMBP,DNMBP-AS1 nsv895921 10 101584719 101595493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509972,nssv1511436 M 6533 0 2 ABCC2 SP54956,SP55021 nsv527150 10 101621343 101623437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703540 S 2026 0 1 "" nsv7517 10 101662835 101664084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3896 S 9 1 0 DNMBP NA12878 nsv7518 10 101728950 101773864 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5309 S 9 0 1 DNMBP NA19129 nsv507574 10 101734333 101740333 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617808 S 4 1 0 DNMBP CHM nsv516789 10 101748972 101770604 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686328,nssv688060,nssv670874 M 2026 0 3 DNMBP nsv825541 10 101813384 101874083 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439084 S 31 1 0 CPN1 NA18973 esv1788809 10 101843195 101843498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610852 S 2 0 1 "" HuRef nsv895922 10 101870903 102038198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553833 S 6533 0 1 BLOC1S2,CHUK,CWF19L1,ERLIN1,PKD2L1,SNORA12 MS20346 nsv895923 10 101920930 101967873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518220 S 6533 0 1 CHUK,ERLIN1 SP57472 esv2572118 10 101923312 101924657 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370497 S 1 0 1 ERLIN1 NA18507 nsv895924 10 101935261 101945191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499856 S 6533 0 1 CHUK,ERLIN1 SP50120 dgv806n71 10 101936422 101970056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895925,nsv895928,nsv895931 M 6533 0 3 CHUK SP52093,SP54792,SP56307 dgv807n71 10 101937727 101948760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895926,nsv895927,nsv895929 M 6533 0 3 CHUK SP55694,SP56047,SP56260 nsv895930 10 101938677 101950956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503593 S 6533 1 0 CHUK SP52077 nsv895932 10 101938677 101980409 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505284 S 6533 1 0 CHUK SP53347 dgv808n71 10 101941976 101948760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895938,nsv895936,nsv895933,nsv895935 M 6533 0 5 CHUK SP50144,SP50896,SP51037,SP56267,SP57329 dgv809n71 10 101941976 101967873 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895942,nsv895941,nsv895940,nsv895934,nsv895939 M 6533 0 5 CHUK SP50530,SP51145,SP56004,SP57314,SP57401 nsv895937 10 101942657 101976179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507838 S 6533 0 1 CHUK SP54620 nsv516860 10 101948222 101996671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687282,nssv654515 M 2026 0 2 CHUK,CWF19L1,SNORA12 nsv895943 10 101951161 101955941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504707 S 6533 1 0 CHUK SP52708 nsv895944 10 101952214 101975941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503565 S 6533 1 0 CHUK SP52077 dgv810n71 10 101952519 101969911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895945,nsv895946 M 6533 0 2 CHUK SP55847,SP55878 nsv895947 10 101955951 101967873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505582 S 6533 0 1 CHUK SP53687 nsv895948 10 101955951 101977626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504699 S 6533 0 1 CHUK SP52708 nsv895949 10 101957400 101965259 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513261,nssv1516379 M 6533 1 1 CHUK SP55699,SP56816 nsv895950 10 101966491 101976610 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502650 S 6533 1 0 CHUK SP51307 nsv895951 10 101970726 101976610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514699 S 6533 0 1 CHUK SP56047 nsv895952 10 101971264 101979439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501938 S 6533 0 1 CHUK SP50829 nsv895953 10 101975195 101979439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503486 S 6533 1 0 CHUK SP52060 esv1125484 10 102027639 102027815 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785641 S 2 0 1 BLOC1S2 HuRef nsv831961 10 102046336 102207977 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448698 S 95 0 1 LINC00263,PKD2L1,SCD nsv519672 10 102108944 102122525 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694341 S 2026 1 0 SCD nsv527448 10 102111569 102117482 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703889 S 2026 1 0 SCD nsv895954 10 102122633 102175244 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597978 S 6533 0 1 LINC00263 IS41317 essv24916 10 102141840 102370625 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. HIF1AN,NDUFB8,SEC31B,WNT8B NA06994 esv4503 10 102148264 102149647 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26944 S 1 0 1 Single Asian sample YH "" YH dgv170n67 10 102148788 102149609 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825544,nsv825543 M 31 0 2 "" AK20,AK4 nsv831962 10 102156298 102342998 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448699,nssv1448700 M 95 2 0 HIF1AN,NDUFB8,SEC31B,WNT8B dgv811n71 10 102180396 102350845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895955,nsv895956 M 6533 0 2 HIF1AN,NDUFB8,SEC31B,WNT8B IS40492,MS18185 esv22178 10 102181927 102201591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15465 S 451 0 1 "" NA12004 dgv318e1 10 102193061 102265632 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18867,essv20460 M 271 0 0 SEC31B,WNT8B NA06994,NA07029 nsv8723 10 102203482 102259937 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18452 S 31 1 0 Samples from several populations that are part of the HapMap project. SEC31B,WNT8B NA07029 nsv831963 10 102207978 102428669 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448701 S 95 0 1 HIF1AN,NDUFB8,SEC31B,WNT8B nsv818783 10 102211414 102259196 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417055,nssv1417056 M 112 2 0 SEC31B,WNT8B NA06994,NA07029 esv34217 10 102212947 102265632 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987047,essv6980304 M 771 1 0 SEC31B,WNT8B NA07029 nsv895957 10 102229819 102397163 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500064 S 6533 1 0 HIF1AN,NDUFB8,SEC31B,WNT8B SP50073 nsv819434 10 102233166 102233468 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419869 S 2 0 1 WNT8B AK1 nsv7519 10 102267314 102289260 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10776 S 9 1 0 HIF1AN,NDUFB8,SEC31B NA18956 nsv525597 10 102341775 102352105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701740 S 2026 0 1 "" nsv436108 10 102344454 102354417 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466614 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28967 10 102344727 102352113 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16970 S 451 0 2 "" NA18505,NA18511 nsv442206 10 102345103 102352103 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv520840 10 102350845 102352105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689910,nssv676311 M 2026 0 2 "" nsv895958 10 102358149 102434884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546744 S 6533 0 1 "" MS17208 essv14536 10 102368626 102555726 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PAX2 NA19202 dgv812n71 10 102369287 102513139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895960,nsv895959 M 6533 0 2 PAX2 MS10311,MS16153 nsv7520 10 102399106 102416455 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10777 S 9 1 0 "" NA18956 esv2390156 10 102400643 102401092 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741846 S 1 0 1 "" NA18507 nsv831964 10 102407399 102581725 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448702 S 95 0 1 PAX2 nsv507575 10 102425829 102431829 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620662 S 4 1 0 "" NA15510 nsv7521 10 102426641 102471270 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8836 S 9 0 1 "" NA12156 nsv7522 10 102441169 102473292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5310 S 9 1 0 "" NA19129 nsv8725 10 102487783 102492792 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21702 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv7524 10 102526443 102559553 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv962 S 9 1 0 PAX2 NA19240 nsv825545 10 102577107 102580137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428498 S 31 1 0 PAX2 AK10 esv29749 10 102621238 102623058 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16795 S 451 1 0 "" NA12044 esv1002536 10 102622593 102623263 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586499 S 3 1 0 "" HuRef nsv831965 10 102666471 102832543 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448705,nssv1448704,nssv1448708,nssv1448709,nssv1448707,nssv1448710,nssv1448703 M 95 0 7 C10orf2,FAM178A,KAZALD1,LZTS2,MIR608,MRPL43,PDZD7,SEMA4G,SFXN3 nsv515627 10 102678352 102697516 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669086,nssv685656,nssv676676,nssv674074,nssv664153,nssv680693,nssv669143,nssv661591,nssv678267,nssv681366,nssv686756,nssv669368 M 2026 10 2 FAM178A nsv467443 10 102679207 102757107 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542734 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf2,FAM178A,LZTS2,MIR608,MRPL43,SEMA4G HGDP00338 nsv517698 10 102715643 102766860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666988,nssv652885,nssv660862,nssv659735,nssv668656,nssv654660,nssv687630 M 2026 0 7 C10orf2,LZTS2,MIR608,MRPL43,PDZD7,SEMA4G nsv895961 10 102715643 102777581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549796 S 6533 0 1 C10orf2,LZTS2,MIR608,MRPL43,PDZD7,SEMA4G MS18276 esv28582 10 102717025 102717605 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16234 S 451 0 1 "" NA18858 dgv813n71 10 102739059 102765195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895965,nsv895962 M 6533 0 2 C10orf2,LZTS2,PDZD7 SP54043,SP54956 nsv895963 10 102740773 102814282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585918 S 6533 0 1 C10orf2,KAZALD1,LZTS2,PDZD7,SFXN3 IS37646 nsv895964 10 102743809 102760072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508989 S 6533 0 1 C10orf2,LZTS2,PDZD7 SP54725 nsv7525 10 102771955 102790503 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5311 S 9 1 0 PDZD7,SFXN3 NA19129 nsv508603 10 102853760 102909914 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622745 S 4 0 1 TLX1,TLX1NB NA18994 nsv831966 10 102874604 103037179 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448711 S 95 1 0 FLJ41350,LBX1,TLX1,TLX1NB nsv895966 10 102877003 102899655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592250 S 6533 0 1 TLX1,TLX1NB IS39233 nsv7526 10 102906672 102939799 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8837 S 9 1 0 "" NA12156 nsv24777 10 102946846 102947481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43355 M 24 "" esv272986 10 103038048 103038390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580718,essv2579203,essv2579432 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv467444 10 103040561 103063644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542735 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01001 esv2750847 10 103044972 103442635 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987413,essv6983780,essv6983781,essv6983782 M 771 1 0 BTRC,DPCD,FBXW4,MIR3158-1,MIR3158-2,POLL BEC_626 nsv831967 10 103121421 103296360 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448712 S 95 1 0 BTRC nsv895967 10 103159862 103412283 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527749 S 6533 1 0 BTRC,DPCD,FBXW4,MIR3158-1,MIR3158-2,POLL SP80967 nsv526529 10 103330046 103344172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702842 S 2026 0 1 DPCD,POLL nsv527185 10 103330046 103358644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703581 S 2026 0 1 DPCD,MIR3158-1,MIR3158-2,POLL esv23858 10 103346011 103346569 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19698 S 451 0 1 DPCD NA18502 esv2517040 10 103478318 103478990 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182420 S 1 1 0 "" NA18507 esv1607083 10 103478480 103478480 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757365 S 2 1 0 "" HuRef dgv171n67 10 103519475 103567132 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825546,nsv825547 M 31 2 0 FGF8,MGEA5,NPM3 NA18969,NA18973 esv1006576 10 103565066 103566008 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572776 S 3 0 1 MGEA5 HuRef nsv513016 10 103604615 103605095 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625674 S 1 1 0 C10orf76 1 esv1400220 10 103604841 103604841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167021 S 2 1 0 C10orf76 HuRef esv270180 10 103725790 103725875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517127 S 157 1 0 Samples from several populations that are part of the HapMap project. C10orf76 hapmap_pooled_sample_set esv273373 10 103727668 103728886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580830,essv2579713 M 7 2 0 Samples from several populations that are part of the HapMap project. C10orf76 NA19238,NA19240 nsv895968 10 103762260 103994185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546745 S 6533 0 1 C10orf76,ELOVL3,HPS6,LDB1,NOLC1,PITX3,PPRC1 MS17208 nsv895969 10 103798648 103830977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510814 S 6533 0 1 C10orf76,HPS6 SP54988 nsv482149 10 103815137 103817782 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558510 S 1 1 0 HPS6 KB1 esv32953 10 103837774 103844754 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99378 S 51 0 1 "" 22335 esv32792 10 103844754 103850087 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93848 S 51 0 1 "" 21634 nsv825548 10 103957602 103959984 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430781,nssv1428499 M 31 0 2 "" AK10,AK16 esv997610 10 103977480 103978021 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587006 S 3 0 1 ELOVL3 HuRef esv29423 10 103994812 103995322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14258 S 451 0 1 GBF1 NA12239 nsv518095 10 103998270 103998741 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695507 S 2026 0 1 GBF1 nsv526665 10 104112832 104147701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702994 S 2026 0 1 GBF1,NFKB2 nsv525546 10 104130340 104164885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701683 S 2026 0 1 GBF1,NFKB2,PSD nsv895970 10 104132284 104261082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546746 S 6533 0 1 ACTR1A,C10orf95,CUEDC2,FBXL15,GBF1,LOC100505761,MIR146B,NFKB2,PSD,SUFU,TMEM180 MS17208 dgv814n71 10 104139656 104170960 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895975,nsv895974,nsv895971 M 6533 0 3 FBXL15,NFKB2,PSD SP54043,SP54956,SP54988 dgv815n71 10 104148257 104166140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895972,nsv895973,nsv895976 M 6533 0 5 NFKB2,PSD SP51109,SP54593,SP54725,SP55019,SP55021 dgv816n71 10 104152760 104164885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895977,nsv895978 M 6533 0 3 PSD SP54591,SP54967,SP55056 nsv825549 10 104188460 104199529 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441314 S 31 1 0 "" NA18969 nsv831968 10 104232697 104414392 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448713 S 95 1 0 ACTR1A,SUFU,TRIM8 nsv467445 10 104251349 104376924 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542736 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTR1A,SUFU HGDP00072 nsv895979 10 104273864 104321107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518741 S 6533 0 1 SUFU SP57973 nsv825550 10 104279761 104280826 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438322 S 31 0 1 SUFU NA18951 nsv895980 10 104332491 104428555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585919 S 6533 0 1 ARL3,SUFU,TRIM8 IS37646 esv1118247 10 104387013 104387013 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738308 S 2 1 0 "" HuRef esv1159300 10 104387395 104387395 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926439 S 2 1 0 "" HuRef esv1260311 10 104387405 104387405 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853134 S 2 1 0 "" HuRef nsv831969 10 104400998 104561788 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448714 S 95 0 1 ARL3,C10orf26,SFXN2,TRIM8 esv1311562 10 104413139 104413139 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696731 S 2 1 0 "" HuRef nsv820242 10 104478344 104479456 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419175 S 2 1 0 SFXN2 AK1 esv999356 10 104484869 104485537 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586985 S 3 0 1 SFXN2 HuRef esv2532539 10 104517622 104519289 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336313 S 1 0 1 C10orf26 NA18507 esv1620062 10 104518117 104518442 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161853 S 2 0 1 C10orf26 HuRef esv33608 10 104530452 104532925 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99488 S 51 0 1 C10orf26 22335 nsv7527 10 104555463 104589277 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8838 S 9 1 0 C10orf26,CYP17A1 NA12156 nsv526666 10 104574320 104587470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702995 S 2026 0 1 CYP17A1 esv2489056 10 104627465 104628724 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269331 S 1 0 1 AS3MT,C10orf32-AS3MT NA18507 esv1651901 10 104635247 104635586 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912512 S 2 0 1 AS3MT,C10orf32-AS3MT HuRef esv2449517 10 104744718 104745329 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362603 S 1 1 0 CNNM2 NA18507 nsv7528 10 104812020 104856666 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1907 S 9 0 1 CNNM2,NT5C2 NA18555 esv26531 10 104946702 104955418 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14686 S 451 1 0 "" NA11894 nsv509365 10 104956934 105066137 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623755 S 4 1 0 INA,LOC729020,PCGF6 NA18994 esv8301 10 105087418 105087861 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30742 S 1 0 1 PCGF6 SJK nsv25055 10 105087530 105087843 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43633 M 24 PCGF6 nsv7529 10 105143910 105174469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1908 S 9 1 0 MIR1307,PDCD11,USMG5 NA18555 nsv518987 10 105184076 105234555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696455 S 2026 0 1 CALHM1,CALHM2,CALHM3,PDCD11 nsv524966 10 105191567 105467153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700990 S 2026 0 1 CALHM1,CALHM2,CALHM3,NEURL,PDCD11,SH3PXD2A nsv437692 10 105204922 105215191 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467573 S 60 0 1 Samples from several populations that are part of the HapMap project. CALHM1 NA19145 nsv525801 10 105230676 105234555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701984 S 2026 0 1 "" esv27747 10 105298389 105301963 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12739 S 451 3 0 NEURL NA18511,NA19099,NA19114 nsv895981 10 105316290 105373962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509975 S 6533 0 1 NEURL,SH3PXD2A SP54956 nsv7530 10 105376985 105408050 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6412 S 9 1 0 SH3PXD2A NA12156 esv1007127 10 105432722 105434216 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586964 S 3 0 1 SH3PXD2A HuRef esv2072570 10 105450575 105450916 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847000 S 1 0 1 SH3PXD2A NA18507 esv2114347 10 105450708 105451137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526561 S 1 0 1 SH3PXD2A NA18507 esv1393174 10 105450754 105450841 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702681 S 2 0 1 SH3PXD2A HuRef nsv516106 10 105462442 105467153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657799,nssv673043,nssv667648,nssv656689,nssv682163,nssv666246,nssv670849,nssv672823 M 2026 0 8 SH3PXD2A nsv522595 10 105464003 105476067 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705985 S 2026 1 0 SH3PXD2A nsv518657 10 105467153 105473774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696107 S 2026 1 0 SH3PXD2A nsv7531 10 105608154 105653446 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8839,nssv5312 M 9 0 2 OBFC1 NA12156,NA19129 esv1740571 10 105659120 105659120 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308301 S 2 1 0 OBFC1 HuRef nsv895982 10 105662832 105748455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545530 S 6533 0 1 OBFC1,SLK MS16824 esv273716 10 105670533 105670681 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580554,essv2578976,essv2579595 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270027 10 105670534 105670672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510289,essv2510108,essv2496707,essv2511236,essv2504429,essv2512201,essv2495366,essv2510343,essv2493352,essv2508911,essv2500289,essv2502789,essv2511768,essv2496387,essv2496193,essv2493586,essv2506138,essv2500073,essv2498588,essv2505908,essv2504932,essv2497927,essv2493106,essv2505395,essv2502614,essv2501513,essv2504831,essv2506614,essv2498959,essv2499827,essv2501948,essv2511574,essv2504385 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10851,NA11829,NA11894,NA11931,NA11993,NA12155,NA12287,NA12414,NA12776,NA12878,NA12891,NA12892,NA18499,NA18510,NA18511,NA18517,NA18523,NA18573,NA18858,NA18861,NA18942,NA18945,NA18951,NA18952,NA18965,NA19093,NA19099,NA19108,NA19114,NA19225,NA19239 nsv520864 10 105698783 105704389 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697656 S 2026 0 1 "" esv8093 10 105705872 105710757 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30534 S 1 0 1 "" SJK nsv825551 10 105706035 105710900 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423616 S 31 0 1 "" NA18999 nsv7532 10 105732834 105763460 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5313 S 9 1 0 SLK NA19129 esv259448 10 105742288 105742600 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394128,essv2393937,essv2393829,essv2393657,essv2394314 M 6 0 0 Samples from several populations that are part of the HapMap project. SLK NA12878,NA12891,NA12892,NA19238,NA19240 esv259962 10 105742299 105742614 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399075,essv2400322,essv2398460,essv2398885,essv2395771,essv2400585,essv2399958,essv2399602,essv2399735,essv2397331,essv2401065,essv2396959,essv2400712,essv2395523,essv2398160,essv2396976,essv2395976,essv2400519 M 144 0 0 Samples from several populations that are part of the HapMap project. SLK NA10851,NA11881,NA11894,NA11995,NA12004,NA12043,NA12156,NA12761,NA12828,NA12878,NA12891,NA12892,NA18542,NA18563,NA18949,NA18973,NA19238,NA19240 nsv513017 10 105785343 105785990 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625675 S 1 1 0 COL17A1 1 esv2556771 10 105785484 105786072 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367369 S 1 1 0 COL17A1 NA18507 esv2453005 10 105785608 105785671 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265639 S 1 0 1 COL17A1 NA18507 esv1752212 10 105785861 105785861 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950417 S 2 1 0 COL17A1 HuRef esv1639508 10 105785913 105785913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603824 S 2 1 0 COL17A1 HuRef nsv528782 10 105800390 105805314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705449 S 2026 0 1 COL17A1 esv273538 10 105807158 105807388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580882 S 7 1 0 Samples from several populations that are part of the HapMap project. COL17A1 NA19238 esv269373 10 105807169 105807375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557988,essv2565634,essv2575877,essv2540691,essv2546536,essv2526131,essv2542270,essv2536551,essv2522914,essv2544055,essv2570873,essv2568352,essv2545682,essv2523483,essv2531842,essv2577312,essv2570646,essv2548191,essv2521767,essv2576518,essv2525438,essv2535162,essv2554044,essv2544459,essv2552220,essv2520427,essv2547457,essv2529096,essv2558654,essv2564771,essv2577797,essv2553727,essv2559525,essv2565400,essv2576131,essv2519976,essv2564175,essv2530811,essv2562099,essv2537414,essv2528339,essv2546805,essv2521017,essv2557500,essv2556886,essv2551845,essv2569618,essv2558933,essv2539134,essv2527260,essv2544735,essv2562887,essv2523544,essv2552762,essv2541138,essv2538360,essv2542702,essv2540508,essv2524514,essv2565058,essv2534718,essv2561217,essv2539826,essv2549466,essv2519566,essv2560085,essv2522141,essv2566056,essv2532881,essv2528988,essv2567638,essv2541537,essv2570347,essv2563652,essv2535765,essv2572333,essv2559259,essv2550970,essv2569109,essv2543623,essv2556375,essv2562262,essv2578401,essv2573027,essv2555285,essv2567051,essv2529900,essv2573992,essv2527438,essv2555971,essv2573616,essv2543185,essv2572171,essv2525668,essv2526970,essv2529659,essv2575640,essv2524126,essv2530351,essv2572793,essv2545018,essv2548122,essv2549680,essv2545922,essv2574452,essv2536121,essv2537815,essv2548741,essv2533386,essv2554741,essv2547637,essv2525110,essv2563131 M 157 113 0 Samples from several populations that are part of the HapMap project. COL17A1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18504,NA18508,NA18516,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18909,NA18940,NA18942,NA18943,NA18947,NA18949,NA18951,NA18952,NA18956,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19129,NA19141,NA19143,NA19172,NA19210,NA19225,NA19239,NA19240 esv1658839 10 105807204 105807204 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741059 S 2 1 0 COL17A1 HuRef nsv831971 10 105869848 106051057 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448715 S 95 1 0 GSTO1,GSTO2,MIR4482,MIR609,SFR1,WDR96 nsv7533 10 105979637 106003319 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8840 S 9 1 0 WDR96 NA12156 esv269375 10 105994266 105994351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517346 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv1968684 10 106069670 106070205 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4781861 S 1 0 1 ITPRIP NA18507 esv2112142 10 106107394 106107876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693356 S 1 0 1 CCDC147 NA18507 nsv25421 10 106107674 106107727 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43999 M 24 CCDC147 esv2136408 10 106145952 106146384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528091 S 1 0 1 CCDC147 NA18507 esv267580 10 106214459 106214544 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517165 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv7536 10 106262776 106308499 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6414 S 9 0 1 "" NA12156 esv27836 10 106263024 106267434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14461,esv20895 M 451 0 5 "" NA07045,NA18511,NA18909,NA19147,NA19257 nsv831972 10 106273038 106439578 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448716 S 95 1 0 SORCS3 esv6399 10 106323072 106323190 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28840 S 1 1 0 "" SJK esv2514196 10 106376633 106377938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164153 S 1 0 1 "" NA18507 esv269089 10 106427900 106427972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565715,essv2570688,essv2547463,essv2557138,essv2539051,essv2557624,essv2529584,essv2524071,essv2554794 M 157 9 0 Samples from several populations that are part of the HapMap project. SORCS3 NA07346,NA11829,NA12044,NA12717,NA18501,NA18519,NA18953,NA19093,NA19129 esv1171448 10 106446101 106446101 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594783 S 2 1 0 SORCS3 HuRef esv270102 10 106556854 106557181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571594,essv2525830,essv2522949,essv2556482,essv2523121,essv2550477,essv2554107,essv2520715,essv2547209,essv2529228,essv2576273,essv2530629,essv2533994,essv2524034,essv2530427,essv2568483,essv2548858,essv2533412,essv2554618,essv2558071 M 157 20 0 Samples from several populations that are part of the HapMap project. SORCS3 NA07037,NA07051,NA07346,NA10851,NA11840,NA11918,NA11931,NA11994,NA12004,NA12234,NA12287,NA12716,NA12717,NA12749,NA12814,NA12873,NA18916,NA19129,NA19141,NA19147 nsv831973 10 106582837 106733421 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448718 S 95 1 0 SORCS3 nsv527793 10 106709861 107562376 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704285 S 2026 1 0 SORCS3 nsv7537 10 106735122 106769634 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv963 S 9 1 0 SORCS3 NA19240 nsv528837 10 106766474 107107826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705514 S 2026 1 0 SORCS3 esv26127 10 106823163 106824555 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16072 S 451 0 2 SORCS3 NA18511,NA19147 esv271813 10 106836392 106836477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517140 S 157 1 0 Samples from several populations that are part of the HapMap project. SORCS3 hapmap_pooled_sample_set esv995155 10 106838200 106838266 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585237 S 3 0 1 SORCS3 HuRef esv1433381 10 106838260 106838327 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599644 S 2 0 1 SORCS3 HuRef nsv831974 10 106841983 106989942 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448719 S 95 1 0 SORCS3 esv272563 10 106845431 106845758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584011,essv2583715 M 7 2 0 Samples from several populations that are part of the HapMap project. SORCS3 NA19238,NA19240 esv271018 10 106845432 106845759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558208,essv2521335,essv2568317,essv2577529,essv2570453,essv2553968,essv2555092,essv2540093,essv2527759,essv2574967,essv2571258,essv2574113,essv2551455,essv2537770,essv2533404 M 157 15 0 Samples from several populations that are part of the HapMap project. SORCS3 NA07000,NA07051,NA10851,NA11894,NA11995,NA12043,NA12044,NA12287,NA12872,NA18489,NA18907,NA19138,NA19238,NA19240,NA19257 nsv524731 10 106899935 106900891 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700722 S 2026 1 0 SORCS3 nsv526841 10 106956208 106967316 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703198 S 2026 0 1 SORCS3 esv2572517 10 107043994 107052771 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258483 S 1 0 1 "" NA18507 nsv436119 10 107045210 107052721 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466615 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2651000 10 107045271 107052538 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176601 S 1 0 1 "" NA18507 dgv2e195 10 107046269 107049160 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array esv2422172,esv2421890 M 1184 0 405 "" NA06994,NA07000,NA07029,NA07045,NA10846,NA10847,NA10852,NA10863,NA11839,NA11882,NA11995,NA12044,NA12045,NA12056,NA12145,NA12146,NA12264,NA12707,NA12708,NA12752,NA12761,NA12832,NA12842,NA12875,NA12892,NA17993,NA18484,NA18486,NA18488,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18510,NA18515,NA18516,NA18518,NA18519,NA18520,NA18559,NA18852,NA18853,NA18854,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18916,NA18917,NA18930,NA19027,NA19028,NA19031,NA19036,NA19038,NA19046,NA19095,NA19096,NA19097,NA19098,NA19101,NA19102,NA19103,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19128,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19174,NA19176,NA19179,NA19180,NA19181,NA19183,NA19185,NA19186,NA19189,NA19191,NA19192,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19221,NA19222,NA19223,NA19224,NA19226,NA19235,NA19236,NA19237,NA19238,NA19247,NA19249,NA19256,NA19308,NA19309,NA19310,NA19311,NA19314,NA19315,NA19317,NA19319,NA19324,NA19328,NA19332,NA19334,NA19346,NA19350,NA19359,NA19360,NA19372,NA19373,NA19374,NA19375,NA19377,NA19379,NA19382,NA19383,NA19384,NA19390,NA19391,NA19393,NA19394,NA19396,NA19399,NA19403,NA19404,NA19428,NA19429,NA19434,NA19436,NA19437,NA19440,NA19443,NA19444,NA19446,NA19449,NA19451,NA19452,NA19455,NA19457,NA19462,NA19463,NA19466,NA19467,NA19469,NA19470,NA19471,NA19472,NA19473,NA19649,NA19657,NA19659,NA19663,NA19664,NA19670,NA19671,NA19678,NA19684,NA19701,NA19702,NA19703,NA19704,NA19705,NA19711,NA19712,NA19714,NA19716,NA19723,NA19746,NA19749,NA19774,NA19776,NA19778,NA19779,NA19784,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19909,NA19916,NA19917,NA19918,NA19919,NA19982,NA19983,NA20127,NA20128,NA20277,NA20281,NA20282,NA20284,NA20288,NA20291,NA20292,NA20294,NA20295,NA20300,NA20301,NA20302,NA20317,NA20322,NA20332,NA20333,NA20336,NA20342,NA20343,NA20347,NA20350,NA20357,NA20359,NA20363,NA20364,NA20504,NA20509,NA20515,NA20518,NA20520,NA20522,NA20524,NA20534,NA20539,NA20588,NA20752,NA20753,NA20757,NA20758,NA20761,NA20775,NA20778,NA20805,NA20809,NA20845,NA20851,NA20853,NA20858,NA20859,NA20861,NA20869,NA20883,NA20895,NA20900,NA20901,NA20902,NA20904,NA20910,NA20911,NA21086,NA21101,NA21295,NA21297,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21317,NA21333,NA21336,NA21353,NA21355,NA21356,NA21357,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21367,NA21371,NA21378,NA21379,NA21381,NA21390,NA21391,NA21403,NA21404,NA21408,NA21414,NA21415,NA21418,NA21420,NA21421,NA21434,NA21435,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21455,NA21457,NA21473,NA21479,NA21480,NA21486,NA21491,NA21493,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21523,NA21524,NA21525,NA21528,NA21573,NA21574,NA21576,NA21577,NA21580,NA21587,NA21599,NA21600,NA21601,NA21611,NA21613,NA21616,NA21617,NA21619,NA21620,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21683,NA21685,NA21689,NA21693,NA21717,NA21719,NA21722,NA21740,NA21776 nsv514538 10 107047016 107048336 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627101 S 1414 0 0 "" nsv442590 10 107047028 107049160 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv26749 10 107047047 107052393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10831 S 451 0 15 "" NA07045,NA11995,NA12044,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19225 nsv825552 10 107051226 107052353 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430015 S 31 0 1 "" AK14 nsv526085 10 107079919 107285172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702329 S 2026 1 0 "" esv270575 10 107084091 107084442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510789,essv2493200,essv2509130,essv2506048,essv2512762,essv2505239,essv2505754,essv2513500,essv2509317,essv2506652 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA18522,NA18523,NA18577,NA18853,NA18861,NA18907,NA18909,NA19108 nsv24427 10 107089682 107089764 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43005 M 24 "" esv2750848 10 107092132 107297420 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987505,essv6984143,essv6988761 M 771 1 0 "" BEC_786 nsv467446 10 107110147 107285172 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542737 S 1557 1 0 "" 1780862414_A nsv895983 10 107144246 107269047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596856 S 6533 0 1 "" IS40657 nsv512181 10 107239892 107243625 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624747 S 1 0 1 "" 1 esv1001730 10 107242478 107243439 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563766 S 3 0 1 "" HuRef esv2300990 10 107242793 107243533 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810709 S 1 0 1 "" NA18507 esv4678 10 107242931 107243392 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27119 S 1 0 1 Single Asian sample YH "" YH esv9267 10 107242988 107243338 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31708 S 1 0 1 "" SJK nsv24273 10 107242989 107243341 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42851 M 24 "" esv1005892 10 107242990 107243342 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579500 S 3 0 1 "" HuRef esv1194900 10 107242992 107243345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995859 S 2 0 1 "" HuRef esv269570 10 107275464 107275600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510096,essv2511047,essv2505113,essv2507982,essv2499481,essv2512205,essv2508518,essv2503801,essv2493468,essv2494350,essv2504243,essv2494827,essv2509439 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11831,NA11995,NA12003,NA12044,NA12155,NA12717,NA12761,NA12763,NA18502,NA18505,NA18519,NA19129 nsv527263 10 107309979 107495151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703669 S 2026 0 1 "" nsv831975 10 107333748 107507454 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448720 S 95 0 1 "" nsv24285 10 107376349 107381077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42863 M 24 "" nsv522763 10 107512917 107533290 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698402 S 2026 0 1 "" essv21028 10 107519652 107743529 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA06991 nsv895984 10 107577377 107797614 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595595 S 6533 0 1 "" IS40280 dgv319e1 10 107589284 107743529 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7119,essv3022,essv5305,essv21135,essv24223,essv16221,essv23212,essv13145,essv10114,essv14698,essv135,essv17798,essv4665,essv17295,essv19913,essv10590,essv19512,essv18361,essv16473,essv5152,essv6961,essv17937,essv4920,essv24699,essv18930,essv443,essv23624,essv5459,essv10357,essv21421 M 271 0 0 "" NA10831,NA10856,NA11829,NA11994,NA12003,NA12005,NA12006,NA12156,NA12717,NA12813,NA12815,NA12864,NA18506,NA18537,NA18561,NA18563,NA18564,NA18582,NA18594,NA18632,NA18856,NA18952,NA18968,NA18981,NA19102,NA19130,NA19139,NA19159,NA19161,NA19240 nsv428237 10 107589284 107743529 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451950,nssv451951,nssv451952 M 62 2 1 "" NA18916,NA19113,NA19147 dgv34e55 10 107595095 107673948 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34654,esv2750849 M 771 0 2 "" BEC_547,NA06991 dgv320e1 10 107602546 107689620 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21876,essv19341 M 271 0 0 "" NA06985,NA06991 nsv895985 10 107603077 107689216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573616,nssv1601051 M 6533 0 2 "" IS33472,IS41964 esv24138 10 107605427 107675905 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16010 S 451 0 1 "" NA06985 nsv467448 10 107615243 107671437 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542738 S 1557 0 1 "" 1780862444_A nsv525954 10 107615243 107671437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702162 S 2026 0 1 "" nsv818784 10 107615243 107671437 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418026,nssv1418015 M 112 0 2 "" NA06985,NA06991 nsv508605 10 107657908 107722823 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620138 S 4 0 1 "" NA15510 nsv438179 10 107658473 107670279 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470311,nssv470312 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991 nsv7538 10 107663382 107695259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5315 S 9 1 0 "" NA19129 esv5158 10 107667508 107667963 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27599 S 1 0 1 Single Asian sample YH "" YH nsv895986 10 107671925 107728116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588971 S 6533 0 1 "" IS38271 nsv831976 10 107810759 107992053 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448721 S 95 1 0 "" esv991755 10 107878047 107878189 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582690 S 3 0 1 "" HuRef esv1635336 10 107878115 107878258 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356668 S 2 0 1 "" HuRef esv269493 10 107881520 107881840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558014,essv2565778,essv2576114,essv2540794,essv2571662,essv2546302,essv2521261,essv2526210,essv2536644,essv2523057,essv2543909,essv2570860,essv2556746,essv2568400,essv2545537,essv2523285,essv2531951,essv2577375,essv2570585,essv2548289,essv2521745,essv2576811,essv2550556,essv2550478,essv2535334,essv2554097,essv2544425,essv2552123,essv2547307,essv2529359,essv2558484,essv2564544,essv2577701,essv2553766,essv2559632,essv2565357,essv2576490,essv2554902,essv2530812,essv2561774,essv2537208,essv2528492,essv2546700,essv2557214,essv2552587,essv2562722,essv2578830,essv2558909,essv2536894,essv2538871,essv2569638,essv2527237,essv2561426,essv2544738,essv2562943,essv2523575,essv2552742,essv2541159,essv2538211,essv2542707,essv2540225,essv2524730,essv2564952,essv2534826,essv2561018,essv2539904,essv2549557,essv2519823,essv2560000,essv2522246,essv2566112,essv2530914,essv2532603,essv2567736,essv2528690,essv2567530,essv2541636,essv2570116,essv2563877,essv2553127,essv2535831,essv2572252,essv2551150,essv2556340,essv2578488,essv2572954,essv2533732,essv2555678,essv2567270,essv2566587,essv2529892,essv2574002,essv2527441,essv2555803,essv2534391,essv2522426,essv2531317,essv2573525,essv2543170,essv2573334,essv2577189,essv2572120,essv2526960,essv2575037,essv2538774,essv2526442,essv2524045,essv2560862,essv2574829,essv2530274,essv2572744,essv2545003,essv2548155,essv2549740,essv2571501,essv2545847,essv2574400,essv2538009,essv2549028,essv2533094,essv2554691,essv2547623,essv2524963,essv2563255 M 157 124 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18507,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18858,NA18871,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA19005,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19141,NA19143,NA19172,NA19210,NA19225,NA19238,NA19239,NA19240 esv272770 10 107881520 107881840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581741,essv2582431,essv2582858,essv2584075,essv2584788,essv2583409 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv25437 10 107881537 107881537 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44015 M 24 "" nsv24108 10 107881552 107881552 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42686 M 24 "" nsv521684 10 107902166 107909355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698304 S 2026 0 1 "" nsv511434 10 107940297 107943299 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626046 S 1 0 1 "" 1 nsv512182 10 107940479 107942559 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624748 S 1 0 1 "" 1 esv4663 10 107940631 107941705 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27104 S 1 0 1 Single Asian sample YH "" YH nsv820849 10 107940646 107941699 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420893 S 1 0 1 "" NA10851 nsv825554 10 107940646 107941699 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440532,nssv1423617,nssv1429269 M 31 0 3 "" AK12,NA18564,NA18999 esv988092 10 107940672 107941584 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572394 S 3 0 1 "" HuRef esv5758 10 107940676 107941575 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28199 S 1 0 1 "" SJK esv26346 10 107940677 107941590 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12266 S 451 17 14 "" NA07037,NA11894,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225,NA19240 nsv825555 10 107940961 107941506 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430782,nssv1434595,nssv1430016,nssv1425181,nssv1431510,nssv1435288,nssv1434774,nssv1433851,nssv1421959,nssv1441315,nssv1425985,nssv1433043,nssv1427374,nssv1437634,nssv1424415,nssv1438323,nssv1439859,nssv1439087,nssv1422799,nssv1426900,nssv1432270,nssv1436046,nssv1428680,nssv1428500,nssv1436875,nssv1427690 M 31 0 26 "" AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997 esv33595 10 107942183 107946708 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99399 S 51 1 0 "" 22335 nsv467449 10 107967673 108006360 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542739 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00651 nsv516112 10 107982339 108006360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666275,nssv683255,nssv689620 M 2026 0 3 "" nsv895987 10 107982339 108121451 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592998 S 6533 1 0 "" IS39331 esv992069 10 107985679 107987759 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563469 S 3 0 1 "" HuRef esv28044 10 107985851 107987694 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15994 S 451 35 0 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819790 10 107985893 107988478 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419449 S 2 1 0 "" AK1 nsv825556 10 107985934 107987886 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435289,nssv1421960 M 31 1 1 "" NA18942,NA18997 nsv821221 10 107986000 107988866 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420894 S 1 0 1 "" NA10851 esv1303493 10 107987194 107987298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646942 S 2 0 1 "" HuRef esv1249063 10 108000495 108000620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219717 S 2 0 1 "" HuRef nsv825557 10 108006861 108015012 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428501 S 31 0 1 "" AK10 dgv9n50 10 108020170 108022535 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512183,nsv511459 M 1 0 1 "" 1 esv4485 10 108020244 108022652 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26926 S 1 0 1 Single Asian sample YH "" YH esv6500 10 108020279 108022534 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28941 S 1 0 1 "" SJK esv23577 10 108020303 108022518 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10104 S 451 0 13 "" NA07037,NA07045,NA11931,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12878,NA18858 nsv507576 10 108044799 108050799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620667 S 4 1 0 "" NA15510 nsv831977 10 108216003 108403168 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448722 S 95 1 0 SORCS1 nsv24294 10 108241943 108241943 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42872 M 24 "" nsv7539 10 108357233 108390617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8841 S 9 1 0 SORCS1 NA12156 esv269214 10 108392320 108392744 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493191,essv2507269,essv2506972 M 157 3 0 Samples from several populations that are part of the HapMap project. SORCS1 NA18504,NA18870,NA19102 nsv25362 10 108423917 108424076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43940 M 24 SORCS1 nsv7540 10 108438254 108472507 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3897 S 9 1 0 SORCS1 NA12878 nsv519092 10 108544581 108549689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696565 S 2026 0 1 SORCS1 nsv831978 10 108574829 108738304 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448723 S 95 0 1 SORCS1 esv272334 10 108581382 108581573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584726,essv2583873 M 7 2 0 Samples from several populations that are part of the HapMap project. SORCS1 NA19239,NA19240 nsv7211 10 108607407 118341730 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11242,nssv9805 M 9 0 0 ABLIM1,ACSL5,ADD3,ADRA2A,ADRB1,AFAP1L2,ATRNL1,BBIP1,C10orf118,C10orf81,C10orf96,CASP7,DCLRE1A,DUSP5,FAM160B1,GFRA1,GPAM,GUCY2GP,HABP2,LOC100505933,LOC143188,LOC282997,MIR2110,MIR4295,MIR4483,MIR4680,MXI1,NHLRC2,NRAP,PDCD4,PNLIP,PNLIPRP1,PNLIPRP3,RBM20,RPL13AP6,SHOC2,SMC3,SMNDC1,SORCS1,TCF7L2,TDRD1,TECTB,TRUB1,VTI1A,VWA2,XPNPEP1,ZDHHC6 NA15510,NA18507 esv2431185 10 108639132 108640555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326289 S 1 0 1 SORCS1 NA18507 nsv525854 10 108775105 108778660 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702048 S 2026 0 1 SORCS1 nsv7541 10 108800001 108816588 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5316 S 9 1 0 SORCS1 NA19129 nsv895988 10 108853218 108911743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591180 S 6533 0 1 SORCS1 IS38649 esv267743 10 108970624 108970952 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526296,essv2536733,essv2523207,essv2531766,essv2570633,essv2521480,essv2578087,essv2553534,essv2565471,essv2562018,essv2524913,essv2563555 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11918,NA11920,NA12004,NA12006,NA12044,NA12144,NA12761,NA12763,NA12812,NA12874 esv2604223 10 108980748 108981712 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173892 S 1 1 0 "" NA18507 esv273942 10 108981229 108981451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580155,essv2580414,essv2579974,essv2579133 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv271625 10 108981241 108981570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565680,essv2575947,essv2540844,essv2546261,essv2521359,essv2525867,essv2536637,essv2522968,essv2544007,essv2571011,essv2556613,essv2568392,essv2545262,essv2523099,essv2531965,essv2577497,essv2548251,essv2521549,essv2576650,essv2550554,essv2525268,essv2535481,essv2554127,essv2544415,essv2552073,essv2520719,essv2547272,essv2529275,essv2558690,essv2564654,essv2577676,essv2553711,essv2565322,essv2576434,essv2520110,essv2554877,essv2530779,essv2561852,essv2537531,essv2547077,essv2540217,essv2521004,essv2557440,essv2556907,essv2552600,essv2551742,essv2532235,essv2562581,essv2569290,essv2578748,essv2550185,essv2536822,essv2539023,essv2527371,essv2561606,essv2544813,essv2523504,essv2552822,essv2541425,essv2538260,essv2542991,essv2540617,essv2524467,essv2564911,essv2534696,essv2561293,essv2539676,essv2549338,essv2519498,essv2559848,essv2565943,essv2531096,essv2532705,essv2567690,essv2528919,essv2567483,essv2541618,essv2570157,essv2553410,essv2535887,essv2572467,essv2559080,essv2566991,essv2541894,essv2551123,essv2556167,essv2527946,essv2562211,essv2539453,essv2534140,essv2578334,essv2573183,essv2555236,essv2533508,essv2555706,essv2567246,essv2566644,essv2574016,essv2527626,essv2557743,essv2534406,essv2531496,essv2573680,essv2543164,essv2573282,essv2577145,essv2571862,essv2525802,essv2526847,essv2529599,essv2575767,essv2575258,essv2538757,essv2526600,essv2574585,essv2568599,essv2545229,essv2548082,essv2571188,essv2546049,essv2574088,essv2551213,essv2536322,essv2537735,essv2548809,essv2532943,essv2554601,essv2547622,essv2524956,essv2563389,essv2557831 M 157 131 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18953,NA18959,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19138,NA19147,NA19172,NA19210,NA19238,NA19239,NA19240,NA19257 nsv825558 10 109019093 109065246 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441316 S 31 0 1 "" NA18969 esv2448794 10 109096448 109097997 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234418 S 1 0 1 "" NA18507 essv1988 10 109121712 109123622 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18942 nsv825559 10 109124754 109130869 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434785 S 31 0 1 "" NA18592 nsv831979 10 109128590 109298895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448724 S 95 1 0 "" esv27689 10 109153872 109154565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15666 S 451 0 1 "" NA18861 nsv524584 10 109173838 109181449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700542 S 2026 0 1 "" nsv519842 10 109273146 109275918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697080 S 2026 0 1 "" nsv467452 10 109282721 109330632 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542741 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 esv997358 10 109361230 109366205 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565665 S 3 1 0 "" HuRef esv1996606 10 109429925 109430338 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856079 S 1 0 1 "" NA18507 nsv521808 10 109446946 109458241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694578 S 2026 0 1 "" dgv50n21 10 109458241 109461372 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520591,nsv518681 M 2026 0 2 "" nsv895989 10 109461372 109497725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537368 S 6533 0 1 "" MS13169 esv27316 10 109628660 109629658 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15562 S 451 0 1 "" NA06985 nsv518988 10 109803462 109813852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696456 S 2026 0 1 "" nsv825560 10 109807530 110046111 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439088 S 31 0 1 "" NA18973 esv1016225 10 109837443 109837443 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681382 S 2 1 0 "" HuRef esv1217370 10 109837445 109837445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228915 S 2 1 0 "" HuRef nsv831980 10 109877210 110098626 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448725 S 95 0 1 "" nsv528845 10 109885028 109940460 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705524 S 2026 1 0 "" nsv521749 10 109899733 109922287 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694516 S 2026 1 0 "" nsv524577 10 109904338 109915196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700533 S 2026 0 1 "" nsv825561 10 110054866 110056256 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421961 S 31 0 1 "" NA18997 nsv7542 10 110119850 110154022 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8842 S 9 1 0 "" NA12156 nsv507577 10 110126618 110132618 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620669,nssv619213 M 4 2 0 "" NA10860,NA15510 esv2750850 10 110140034 110186810 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989365,essv6983422 M 771 0 1 "" BEC_652 esv1930661 10 110147168 110147614 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628352 S 1 0 1 "" NA18507 nsv520820 10 110149085 110183367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697632 S 2026 0 1 "" nsv831983 10 110257909 110457308 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448726 S 95 1 0 "" esv267657 10 110275815 110276181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512941,essv2500587,essv2505677,essv2504403 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA18547,NA18956,NA19005 esv29019 10 110292894 110302782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11426 S 451 0 2 "" NA18523,NA19114 nsv895990 10 110344970 110442901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575463 S 6533 0 1 "" IS33747 nsv825562 10 110365597 110420491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441317 S 31 0 1 "" NA18969 nsv524360 10 110442901 110450222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700271 S 2026 0 1 "" esv2602940 10 110442961 110443812 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184884 S 1 1 0 "" NA18507 essv24256 10 110448977 110633486 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10856 nsv524368 10 110449009 110450222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700280 S 2026 0 1 "" esv2750851 10 110493778 110895201 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986447,essv6986448,essv6983473,essv6983474,essv6983475 M 771 1 0 "" BEC_660 dgv817n71 10 110543352 110615683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895992,nsv895991 M 6533 0 5 "" IS30171,IS40890,IS41862,IS41940,MS20030 esv2536763 10 110596793 110598037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172962 S 1 0 1 "" NA18507 nsv895993 10 110629257 110804518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549241 S 6533 0 1 "" MS18149 nsv895994 10 110692416 110972693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571355 S 6533 1 0 "" IS32703 nsv895995 10 110692416 111338192 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590481 S 6533 1 0 "" IS38515 nsv895996 10 110729755 110981016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547805 S 6533 0 1 "" MS17563 nsv895997 10 110751467 110853785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579419 S 6533 0 1 "" IS35100 nsv437130 10 110804518 110809557 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467011 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10857 dgv818n71 10 110820852 111031300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv895999,nsv895998 M 6533 0 2 "" MS11326,MS25980 nsv25010 10 110865934 110874916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43588 M 24 "" esv26280 10 110906969 110909285 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14759 S 451 0 1 "" NA19240 esv33792 10 110928370 110952208 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99558 S 51 1 0 "" 22335 nsv7543 10 110939015 110964145 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6415,nssv2850 M 9 2 0 "" NA12156,NA18555 esv274914 10 110950017 110958010 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585956 S 1250 0 1 "" esv1010561 10 110952063 110952684 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565101 S 3 1 0 "" HuRef nsv467453 10 110958179 110996149 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542742 S 1557 0 1 "" 1780862078_A nsv526842 10 110959073 110960178 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703199 S 2026 1 0 "" nsv896000 10 111019491 111293348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571356 S 6533 1 0 "" IS32703 esv2619605 10 111025731 111027216 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219205 S 1 0 1 "" NA18507 esv1917316 10 111026170 111026908 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928676 S 1 0 1 "" NA18507 nsv24256 10 111026368 111026687 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42834 M 24 "" esv998612 10 111026376 111026695 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571571 S 3 0 1 "" HuRef esv22793 10 111135780 111136828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17474 S 451 0 1 "" NA19147 nsv528468 10 111192330 111323954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705070 S 2026 0 1 "" esv2539659 10 111209404 111210868 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195969 S 1 0 1 "" NA18507 nsv524604 10 111293348 111366944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700565 S 2026 0 1 "" esv8873 10 111311638 111311722 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31314 S 1 1 0 "" SJK nsv831984 10 111336305 111544230 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448727 S 95 1 0 "" nsv7544 10 111351007 111385125 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8843 S 9 1 0 "" NA12156 nsv7545 10 111552677 111587679 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1909,nssv5317,nssv965,nssv3898,nssv10778,nssv6416 M 9 0 6 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv508606 10 111558576 111571948 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622751,nssv620144,nssv618963,nssv617382 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 dgv16e180 10 111560669 111568724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990884,esv991631 M 3 0 1 "" HuRef esv2645445 10 111561397 111568762 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245713 S 1 0 1 "" NA18507 nsv512184 10 111561757 111568229 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624750 S 1 0 1 "" 1 nsv436101 10 111561824 111568773 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466616 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2039849 10 111561910 111568408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912805 S 1 0 1 "" NA18507 esv5254 10 111562082 111568291 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27695 S 1 0 1 Single Asian sample YH "" YH nsv498740 10 111562100 111568221 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586318 S 9 0 1 "" esv9610 10 111562112 111568203 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32051 S 1 0 1 "" SJK esv1329367 10 111562114 111568220 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106535 S 2 0 1 "" HuRef esv1001159 10 111572654 111572710 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568023 S 3 0 1 "" HuRef esv1273636 10 111572698 111572755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746513 S 2 0 1 "" HuRef nsv7547 10 111728269 111773528 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8844 S 9 0 1 ADD3,LOC100505933 NA12156 esv268232 10 111752925 111753010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518723 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC100505933 NA12045 esv2501162 10 111803750 111805008 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328668 S 1 0 1 ADD3 NA18507 nsv896001 10 111960864 112110563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553676 S 6533 0 1 MXI1,SMNDC1 MS20239 esv275343 10 111996446 112002230 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585318 S 1250 0 1 MXI1 nsv524405 10 111996476 112003264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700324 S 2026 0 1 MXI1 nsv467454 10 112071990 112325746 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542743 S 1557 1 0 DUSP5,SMC3 1780862435_A nsv24538 10 112109994 112109994 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43116 M 24 "" nsv24209 10 112161643 112161643 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42787 M 24 "" esv269249 10 112167736 112173361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518133,essv2513584 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12872 nsv520369 10 112196867 112215703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673044,nssv663259,nssv694496 M 2026 0 3 "" nsv526452 10 112253020 112408768 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702755 S 2026 1 0 DUSP5,RBM20,SMC3 nsv25037 10 112283764 112283854 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43615 M 24 "" nsv508607 10 112321521 112405090 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618965 S 4 0 1 RBM20,SMC3 NA10860 esv23485 10 112378002 112378932 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10093 S 451 0 1 "" NA11995 nsv825563 10 112428354 112431441 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425182 S 31 0 1 RBM20 AK2 esv2082397 10 112470221 112470657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554413 S 1 0 1 RBM20 NA18507 nsv25035 10 112470468 112470520 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43613 M 24 RBM20 nsv24150 10 112553588 112558966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42728 M 24 RBM20 nsv467455 10 112569289 112602461 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542744 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBM20 HGDP01238 dgv819n71 10 112569289 112628018 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896003,nsv896002 M 6533 3 0 LOC282997,PDCD4,RBM20 SP50637,SP54857,SP57201 nsv527892 10 112597908 112600829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704395 S 2026 0 1 "" nsv831985 10 112642079 112793093 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448729,nssv1448730 M 95 1 1 BBIP1,MIR4680,PDCD4,RPL13AP6,SHOC2 nsv7548 10 112649054 112680498 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3899 S 9 1 0 BBIP1,PDCD4,SHOC2 NA12878 nsv825565 10 112660301 112660815 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421962 S 31 0 1 BBIP1 NA18997 nsv518667 10 112682792 112687231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696116 S 2026 0 1 RPL13AP6,SHOC2 nsv825566 10 112820004 112861323 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439089 S 31 1 0 ADRA2A NA18973 nsv527400 10 112823551 112833075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703836 S 2026 0 1 ADRA2A nsv896004 10 112824753 112832951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510816,nssv1509082 M 6533 0 2 ADRA2A SP54750,SP54988 nsv896005 10 112825982 112836288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510520 S 6533 0 1 ADRA2A SP54967 nsv7549 10 112830254 112845854 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5318 S 9 1 0 ADRA2A NA19129 nsv467456 10 112899095 112931770 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542745 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01288 nsv467457 10 112958426 112992712 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542746 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00139 nsv896006 10 112960733 113000046 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577118 S 6533 1 0 "" IS34358 nsv831986 10 112988610 113189580 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448731,nssv1448732 M 95 1 1 "" nsv520693 10 112990307 112992712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692022,nssv675428,nssv674138 M 2026 0 3 "" nsv519051 10 112990307 113000349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696522 S 2026 0 1 "" nsv521847 10 113001028 113001283 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694622 S 2026 1 0 "" nsv528063 10 113001028 113050969 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704599 S 2026 1 0 "" esv259603 10 113087323 113087665 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394172,essv2393795 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv260007 10 113087335 113087680 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394754,essv2399081,essv2395770,essv2397305,essv2396926,essv2400714,essv2396888,essv2396852,essv2397376,essv2398760 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA12004,NA12878,NA12892,NA18542,NA18579,NA18638,NA18980,NA19005 nsv512185 10 113179246 113181976 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624751 S 1 0 1 "" 1 esv1670633 10 113180570 113180687 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244573 S 2 0 1 "" HuRef esv1770185 10 113180713 113181149 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922809 S 2 0 1 "" HuRef esv1032741 10 113181386 113181386 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254400 S 2 1 0 "" HuRef esv1646672 10 113181407 113181407 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835960 S 2 1 0 "" HuRef esv2235402 10 113181429 113182034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710675 S 1 0 1 "" NA18507 esv2935 10 113181497 113181939 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25376 S 1 0 1 Single Asian sample YH "" YH esv1236045 10 113181538 113181848 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932791 S 2 0 1 "" HuRef esv269231 10 113191226 113191311 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517147 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv896007 10 113194242 113353697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549545 S 6533 0 1 "" MS18263 nsv524684 10 113221114 113224690 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700655 S 2026 0 1 "" esv1002469 10 113348981 113349032 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569510 S 3 0 1 "" HuRef nsv896008 10 113353697 113572227 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548359 S 6533 1 0 "" MS17817 nsv831987 10 113420497 113641436 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448733,nssv1448737,nssv1448741,nssv1448738,nssv1448736,nssv1448735,nssv1448742,nssv1448734,nssv1448743,nssv1448744,nssv1448748,nssv1448747,nssv1448746,nssv1448745 M 95 2 12 "" nsv522685 10 113494074 113502956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706094 S 2026 0 1 "" nsv515780 10 113499141 113502956 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701491,nssv664753,nssv690752 M 2026 2 1 "" nsv831988 10 113577753 113744528 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448749 S 95 1 0 "" nsv7550 10 113586629 113610425 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9807 S 9 1 0 "" NA18507 esv270443 10 113593151 113593403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493177,essv2509789,essv2501179,essv2493636,essv2493978,essv2513278,essv2504618,essv2510940,essv2509646,essv2498934 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18508,NA18516,NA18517,NA18871,NA18907,NA19099,NA19116,NA19129,NA19138 nsv7551 10 113617609 113639805 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8845 S 9 0 1 "" NA12156 esv8521 10 113660222 113660320 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30962 S 1 1 0 "" SJK esv2493504 10 113709111 113710485 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361502 S 1 0 1 "" NA18507 nsv508608 10 113780640 113908160 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622755,nssv620147 M 4 0 2 GPAM NA15510,NA18994 nsv831989 10 113861942 114051349 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448750 S 95 1 0 GPAM,TECTB nsv436112 10 113962707 113969031 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466618 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv471669 10 113970162 114120813 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550811 S 48 1 0 GUCY2GP,TECTB NA10493 nsv526495 10 114039625 114043973 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702804 S 2026 0 1 TECTB nsv510233 10 114044336 114050336 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622288,nssv618332 M 4 0 2 TECTB CHM,NA10860 esv270479 10 114063817 114064163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565631,essv2575993,essv2571703,essv2546604,essv2521232,essv2525936,essv2536701,essv2522960,essv2544155,essv2571053,essv2556573,essv2568321,essv2545366,essv2523352,essv2531993,essv2577469,essv2570733,essv2548459,essv2521799,essv2550571,essv2534985,essv2553949,essv2520682,essv2547175,essv2529392,essv2558567,essv2564704,essv2577700,essv2553897,essv2559483,essv2564112,essv2554962,essv2530668,essv2562047,essv2537579,essv2528633,essv2546649,essv2557420,essv2552569,essv2569312,essv2536837,essv2539073,essv2569766,essv2561382,essv2544830,essv2523549,essv2552744,essv2541158,essv2542977,essv2540344,essv2524722,essv2565024,essv2534541,essv2561000,essv2539898,essv2549343,essv2519904,essv2559799,essv2522021,essv2566309,essv2531211,essv2532726,essv2567766,essv2528970,essv2541673,essv2570177,essv2535781,essv2559240,essv2578462,essv2573086,essv2555421,essv2555786,essv2567032,essv2530137,essv2573924,essv2557761,essv2534461,essv2531581,essv2573408,essv2543392,essv2577098,essv2560573,essv2560436,essv2548087,essv2571318,essv2574242,essv2536156,essv2537857,essv2549036,essv2533033,essv2554439,essv2524824,essv2563189,essv2557953 M 157 94 0 Samples from several populations that are part of the HapMap project. GUCY2GP NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18502,NA18508,NA18517,NA18519,NA18520,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18638,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18951,NA18953,NA18959,NA18961,NA18964,NA18965,NA18970,NA19116,NA19190,NA19210,NA19238,NA19240 esv272847 10 114063818 114064164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581709,essv2582411,essv2583112,essv2584377,essv2583666 M 7 5 0 Samples from several populations that are part of the HapMap project. GUCY2GP NA12878,NA12891,NA12892,NA19238,NA19240 nsv508609 10 114088063 114135301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617383,nssv618966 M 4 0 2 ACSL5,GUCY2GP CHM,NA10860 nsv7552 10 114090188 114132845 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3900,nssv966,nssv6417,nssv5319 M 9 0 4 ACSL5,GUCY2GP NA12156,NA12878,NA19129,NA19240 nsv831990 10 114099015 114281746 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448752 S 95 0 1 ACSL5,GUCY2GP,VTI1A,ZDHHC6 esv2473701 10 114101630 114107324 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384333 S 1 0 1 GUCY2GP NA18507 nsv511444 10 114101650 114111782 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626057 S 1 1 0 GUCY2GP 1 nsv8726 10 114101694 114107088 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17902,nssv21732,nssv19585,nssv17590,nssv19206,nssv20288,nssv18744,nssv21313,nssv24647,nssv17825,nssv19515,nssv19869 M 31 7 5 Samples from several populations that are part of the HapMap project. GUCY2GP NA10847,NA10863,NA12155,NA12740,NA12802,NA18502,NA18504,NA18537,NA18942,NA18975,NA18980,NA19221 nsv436116 10 114101731 114106711 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466619 S 2 0 1 Samples from several populations that are part of the HapMap project. GUCY2GP NA18505 esv2347656 10 114102002 114106839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797268 S 1 0 1 GUCY2GP NA18507 nsv442591 10 114102065 114106829 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GUCY2GP nsv820883 10 114102073 114106660 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420895 S 1 0 1 GUCY2GP NA10851 nsv825567 10 114102073 114107035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430783,nssv1430017,nssv1428252,nssv1425987,nssv1425183,nssv1422800,nssv1427496,nssv1434796,nssv1423620,nssv1433044,nssv1439090,nssv1426901,nssv1440533,nssv1421964,nssv1436876 M 31 0 15 GUCY2GP AK14,AK16,AK2,AK4,AK6,NA18542,NA18547,NA18552,NA18564,NA18592,NA18968,NA18972,NA18973,NA18997,NA18999 esv25557 10 114102095 114106660 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14047 S 451 14 8 GUCY2GP NA06985,NA07037,NA11894,NA11993,NA12006,NA12044,NA12239,NA12287,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18523,NA18861,NA18909,NA18916,NA19147,NA19190,NA19257 dgv9n47 10 114102171 114106651 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498741,nsv498742 M 9 0 2 GUCY2GP nsv24854 10 114102174 114106650 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43432 M 24 GUCY2GP esv5586 10 114102177 114106644 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28027 S 1 0 1 GUCY2GP SJK nsv825568 10 114102482 114106660 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433854,nssv1437635,nssv1438324,nssv1428692,nssv1432271,nssv1424416,nssv1436047 M 31 1 6 GUCY2GP AK20,NA18526,NA18566,NA18582,NA18947,NA18949,NA18951 dgv172n67 10 114102736 114106660 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825570,nsv825569 M 31 0 5 GUCY2GP AK10,AK12,AK18,NA18942,NA18969 nsv514539 10 114102760 114106520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628075 S 1414 0 1 GUCY2GP nsv512186 10 114145034 114148602 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624752 S 1 0 1 ACSL5 1 esv2546876 10 114147446 114148898 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198242 S 1 0 1 ACSL5 NA18507 esv2190783 10 114147594 114148301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813483 S 1 0 1 ACSL5 NA18507 esv4752 10 114147692 114148166 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27193 S 1 0 1 Single Asian sample YH ACSL5 YH esv1472658 10 114147774 114148112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807791 S 2 0 1 ACSL5 HuRef esv7592 10 114147783 114148109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30033 S 1 0 1 ACSL5 SJK nsv831991 10 114162846 114331888 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448753 S 95 0 1 ACSL5,VTI1A,ZDHHC6 esv271283 10 114265103 114265427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514014 S 157 1 0 Samples from several populations that are part of the HapMap project. VTI1A NA19143 nsv526766 10 114342951 114366255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703118 S 2026 0 1 VTI1A nsv510234 10 114380575 114386575 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624207 S 4 0 1 MIR4295,VTI1A NA18994 nsv525880 10 114458106 114464924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702080 S 2026 0 1 VTI1A nsv831992 10 114509331 114529258 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448754 S 95 0 1 VTI1A dgv820n71 10 114568984 114593063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896009,nsv896010 M 6533 0 2 "" IS33162,SP50159 esv1402284 10 114675917 114675917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014286 S 2 1 0 "" HuRef nsv7553 10 114835697 114880636 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8846 S 9 0 1 TCF7L2 NA12156 esv2074123 10 114866961 114867364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987386 S 1 0 1 TCF7L2 NA18507 nsv24033 10 114867152 114867207 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42611 M 24 TCF7L2 nsv527837 10 114878598 114901069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704335 S 2026 0 1 TCF7L2 nsv437693 10 114901069 114990004 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467574 S 60 0 1 Samples from several populations that are part of the HapMap project. TCF7L2 NA18872 nsv7554 10 114928407 114960555 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10779 S 9 1 0 "" NA18956 esv267812 10 115038216 115038556 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514772,essv2518035,essv2516899,essv2518855,essv2518354 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12872,NA12892,NA19239,NA19240 esv272837 10 115038220 115038552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583031,essv2584551,essv2583695 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 esv987926 10 115126636 115126719 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584048 S 3 0 1 "" HuRef esv1071485 10 115126636 115126720 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727830 S 2 0 1 "" HuRef nsv831994 10 115130629 115306501 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448755 S 95 1 0 HABP2 esv24442 10 115197573 115206921 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12191 S 451 0 2 "" NA11894,NA12828 nsv516309 10 115199055 115204678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679418,nssv670263,nssv679515,nssv654619,nssv682822,nssv667487,nssv661097,nssv658087,nssv693253,nssv685155 M 2026 0 10 "" esv273332 10 115240227 115240587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580076,essv2580398,essv2579875,essv2578993,essv2579732 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv268045 10 115240243 115240584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557876,essv2540843,essv2546544,essv2521524,essv2576778,essv2520008,essv2552637,essv2578698,essv2544870,essv2523769,essv2552863,essv2541435,essv2540426,essv2524725,essv2565015,essv2534509,essv2539877,essv2519768,essv2559802,essv2531149,essv2532763,essv2528766,essv2567622,essv2570042,essv2563775,essv2553167,essv2535783,essv2566938,essv2529943,essv2555835,essv2522325,essv2574761,essv2545742,essv2525032 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11831,NA11881,NA12144,NA12154,NA12815,NA18502,NA18510,NA18526,NA18537,NA18542,NA18545,NA18552,NA18555,NA18558,NA18561,NA18563,NA18566,NA18570,NA18573,NA18576,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18853,NA18949,NA18956,NA18960,NA19138,NA19239 esv1378949 10 115240276 115240276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337696 S 2 1 0 "" HuRef nsv519312 10 115306802 115309701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655352,nssv691054 M 2026 0 2 HABP2 dgv821n71 10 115312143 115316093 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896011,nsv896012 M 6533 0 2 HABP2 SP80957,SP81036 nsv525228 10 115317074 115319336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701317 S 2026 0 1 HABP2 dgv822n71 10 115324626 115411986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896014,nsv896013 M 6533 0 2 HABP2,NRAP MS13011,MS19488 nsv7555 10 115335104 115379939 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8847 S 9 0 1 HABP2,NRAP NA12156 nsv896015 10 115343691 115360206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503487 S 6533 1 0 NRAP SP52060 nsv522830 10 115383938 115386195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698480 S 2026 0 1 NRAP esv273918 10 115403930 115404256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584707,essv2583859 M 7 2 0 Samples from several populations that are part of the HapMap project. NRAP NA19239,NA19240 nsv526006 10 115411986 115412878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702234 S 2026 0 1 NRAP esv29039 10 115417122 115421760 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17775 S 451 0 1 "" NA19190 esv2042280 10 115428419 115428832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747870 S 1 0 1 "" NA18507 nsv7556 10 115482916 115527949 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8848 S 9 0 1 C10orf81,MIR4483 NA12156 nsv25251 10 115499109 115499422 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43829 M 24 "" esv28320 10 115530264 115540551 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13291,esv17822,esv20578 M 451 5 0 C10orf81 NA07045,NA11993,NA11995,NA12044,NA18511 nsv825571 10 115532099 115533331 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425988 S 31 1 0 C10orf81 AK4 nsv831995 10 115554037 115757337 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448758,nssv1448757,nssv1448756 M 95 1 2 DCLRE1A,NHLRC2 nsv896016 10 115577000 115669498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569787 S 6533 0 1 DCLRE1A,NHLRC2 IS31706 nsv507578 10 115586580 115592580 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619224 S 4 1 0 DCLRE1A NA10860 nsv525892 10 115641243 115669498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702095 S 2026 0 1 NHLRC2 nsv428238 10 115643753 115757897 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451965,nssv451966 M 62 0 2 NHLRC2 HGDP01089,NA19096 nsv517356 10 115651155 115675177 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674139,nssv702245,nssv705768,nssv701769,nssv651806,nssv695635,nssv690091,nssv667818,nssv669144,nssv702461 M 2026 3 7 NHLRC2 nsv7558 10 115694441 115723946 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3901 S 9 1 0 "" NA12878 nsv25169 10 115698400 115698583 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43747 M 24 "" nsv7559 10 115746482 115791891 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6418 S 9 0 1 "" NA12156 nsv7560 10 115754041 115784278 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5320 S 9 1 0 "" NA19129 nsv896017 10 115763286 115802783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562592 S 6533 0 1 ADRB1 MS25669 dgv823n71 10 115782777 115802783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896018,nsv896020,nsv896019 M 6533 0 5 ADRB1 IS30369,IS32841,SP54725,SP56223,SP57469 nsv896021 10 115789467 115798978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502344 S 6533 0 1 ADRB1 SP51109 dgv824n71 10 115790284 115799571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896026,nsv896024,nsv896031,nsv896030,nsv896027,nsv896029,nsv896028,nsv896022,nsv896023 M 6533 0 15 ADRB1 SP53969,SP54002,SP54043,SP54591,SP54593,SP54750,SP54935,SP54937,SP54956,SP54979,SP54988,SP55019,SP55021,SP55056,SP55318 nsv896025 10 115791243 115796988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510521 S 6533 0 1 ADRB1 SP54967 dgv825n71 10 115792588 115798978 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896033,nsv896032 M 6533 0 3 ADRB1 SP54042,SP54672,SP55026 nsv896034 10 115797006 115810167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518221 S 6533 0 1 "" SP57472 nsv509366 10 115824833 115858632 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618082 S 4 1 0 "" CHM nsv513018 10 115833333 115833792 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625676 S 1 1 0 "" 1 esv1595551 10 115833771 115833771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661983 S 2 1 0 "" HuRef esv2560217 10 115893861 115894195 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306129 S 1 0 1 C10orf118 NA18507 esv2646179 10 116002704 116003292 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196052 S 1 1 0 VWA2 NA18507 dgv826n71 10 116022509 116082745 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896036,nsv896035 M 6533 0 3 AFAP1L2,VWA2 IS39233,MS17208,MS18276 esv26785 10 116260110 116261523 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11294 S 451 0 1 ABLIM1 NA19240 nsv528140 10 116407002 116407537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704686 S 2026 0 1 ABLIM1 nsv7561 10 116480491 116513595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8849 S 9 1 0 "" NA12156 nsv516803 10 116518284 116546836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671040,nssv662133,nssv674966,nssv673596 M 2026 0 4 "" esv2089478 10 116560731 116561190 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578955 S 1 0 1 "" NA18507 nsv518081 10 116566179 116572492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695494 S 2026 0 1 FAM160B1 nsv831996 10 116591542 116762958 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448759 S 95 1 0 FAM160B1,TRUB1 nsv831997 10 116679542 116845688 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448760 S 95 1 0 ATRNL1,TRUB1 esv1752293 10 116685439 116685439 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075435 S 2 1 0 "" HuRef nsv831998 10 116812837 116959608 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448761,nssv1448763 M 95 0 2 ATRNL1 nsv831999 10 116928715 117118223 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448764 S 95 0 1 ATRNL1 esv2519726 10 116996010 116996922 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375641 S 1 1 0 ATRNL1 NA18507 esv268380 10 116996300 116996637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565807,essv2575836,essv2540733,essv2571787,essv2546508,essv2521188,essv2526088,essv2542375,essv2536463,essv2522725,essv2543834,essv2570913,essv2568086,essv2545567,essv2531963,essv2577616,essv2570673,essv2548351,essv2521715,essv2525219,essv2535144,essv2554088,essv2520647,essv2547334,essv2553564,essv2564168,essv2555097,essv2530599,essv2561807,essv2537520,essv2528192,essv2546882,essv2556893,essv2552696,essv2536945,essv2527178,essv2544932,essv2523619,essv2552868,essv2541398,essv2542982,essv2540613,essv2524716,essv2565040,essv2539565,essv2549590,essv2519744,essv2560093,essv2522094,essv2565951,essv2530899,essv2532626,essv2567819,essv2529032,essv2567299,essv2570146,essv2563625,essv2553493,essv2535757,essv2572532,essv2559385,essv2550866,essv2568860,essv2543774,essv2556364,essv2528164,essv2533866,essv2578336,essv2573069,essv2555370,essv2533563,essv2555736,essv2567287,essv2566502,essv2527715,essv2555866,essv2534185,essv2522486,essv2531507,essv2573745,essv2577147,essv2572163,essv2529570,essv2538691,essv2524169,essv2574760,essv2568785,essv2545101,essv2560378,essv2549888,essv2571510,essv2574482,essv2551371,essv2537919,essv2548957,essv2554668,essv2547870,essv2525170,essv2563439,essv2557951 M 157 100 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA07000,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12156,NA12249,NA12287,NA12716,NA12717,NA12763,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18517,NA18522,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18907,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18970,NA18973,NA19093,NA19108,NA19129,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19240,NA19257 esv272873 10 116996300 116996637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581856,essv2582342,essv2583240,essv2584290,essv2583279 M 7 5 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA12878,NA12891,NA12892,NA19238,NA19240 nsv517062 10 117094878 117111956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653714,nssv683723 M 2026 0 2 ATRNL1 esv2467201 10 117137764 117139203 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170093 S 1 0 1 ATRNL1 NA18507 nsv896037 10 117195007 117390923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522099 S 6533 0 1 ATRNL1 SP52723 nsv510235 10 117226061 117232061 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624208 S 4 0 1 ATRNL1 NA18994 nsv516325 10 117230761 117231488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655998,nssv667591 M 2026 0 2 ATRNL1 nsv825572 10 117261023 117261627 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428263 S 31 0 1 ATRNL1 NA18968 essv8563 10 117404858 117461605 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA18503 nsv467458 10 117471872 117513328 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542747 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATRNL1 HGDP01185 nsv8727 10 117474850 117537745 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21343 S 31 1 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA18504 nsv25015 10 117487658 117494632 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43593 M 24 ATRNL1 nsv819678 10 117512559 117523833 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418606 S 2 0 1 ATRNL1 AK1 nsv467459 10 117557725 117592170 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542748 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATRNL1 HGDP01063 nsv519531 10 117670513 117672616 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696904 S 2026 1 0 ATRNL1 esv259895 10 117682468 117683019 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395087,essv2395262,essv2399909,essv2399268,essv2398553,essv2396099,essv2398523,essv2399922,essv2399477,essv2400117,essv2398448,essv2397899,essv2398220,essv2400674,essv2398375,essv2400993,essv2395679,essv2396377,essv2398011,essv2398712,essv2397245 M 144 0 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA18486,NA18499,NA18504,NA18508,NA18516,NA18523,NA18562,NA18856,NA18858,NA18861,NA18871,NA18907,NA18909,NA18912,NA19093,NA19099,NA19116,NA19138,NA19147,NA19190,NA19225 esv274054 10 117693705 117693809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580105,essv2579955,essv2581018,essv2578919,essv2579459 M 7 5 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA12878,NA12892,NA19238,NA19239,NA19240 esv267443 10 117693724 117694047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540807,essv2521360,essv2548623,essv2525508,essv2551987,essv2547400,essv2553675,essv2559618,essv2564178,essv2562072,essv2537193,essv2528440,essv2552529,essv2532325,essv2562961,essv2542784,essv2565921,essv2531079,essv2533999,essv2578324,essv2555511,essv2529444,essv2574574,essv2549853,essv2537755 M 157 25 0 Samples from several populations that are part of the HapMap project. ATRNL1 NA07000,NA11831,NA11894,NA12045,NA12156,NA12489,NA12717,NA12763,NA12776,NA12828,NA12874,NA12878,NA12891,NA18502,NA18505,NA18532,NA18550,NA18572,NA18573,NA18916,NA18940,NA18945,NA19093,NA19138,NA19225 dgv173n67 10 117701454 117701989 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825574,nsv825573 M 31 3 0 "" AK18,NA18997,NA18999 nsv821356 10 117701454 117701989 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420896 S 1 0 1 "" NA10851 esv3592 10 117701576 117702071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26033 S 1 0 1 Single Asian sample YH "" YH esv9282 10 117701597 117701993 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31723 S 1 0 1 "" SJK esv993764 10 117701607 117701992 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580742 S 3 0 1 "" HuRef nsv24172 10 117701607 117701992 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42750 M 24 "" esv998855 10 117718475 117722706 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565174 S 3 1 0 "" HuRef nsv518349 10 117770080 117776746 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695777 S 2026 0 1 "" esv28276 10 117793663 117794630 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16222 S 451 1 0 "" NA11995 esv21504 10 117799191 117800541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17302 S 451 0 1 "" NA19108 esv1995539 10 117813340 117813752 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632978 S 1 0 1 GFRA1 NA18507 esv34187 10 117847906 117884107 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GFRA1 nsv832000 10 117934482 118106243 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448765 S 95 1 0 C10orf96,GFRA1 esv2076195 10 117956428 117956840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954755 S 1 0 1 GFRA1 NA18507 nsv519769 10 118012066 118014534 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675359,nssv658407 M 2026 2 0 GFRA1 esv273310 10 118084921 118085199 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579126 S 7 1 0 Samples from several populations that are part of the HapMap project. C10orf96 NA19239 esv268130 10 118119655 118119774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494587,essv2499925,essv2501641,essv2512867,essv2504953,essv2505480,essv2496038 M 157 7 0 Samples from several populations that are part of the HapMap project. C10orf96 NA18550,NA18562,NA18608,NA18609,NA18942,NA18952,NA18961 nsv832001 10 118128360 118305049 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448766 S 95 0 1 C10orf96,PNLIP,PNLIPRP3 esv2477561 10 118139903 118140862 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378055 S 1 1 0 "" NA18507 esv1333935 10 118140273 118140273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3910418 S 2 1 0 "" HuRef nsv819162 10 118227187 118228227 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419160 S 2 1 0 PNLIPRP3 AK1 esv2585538 10 118254966 118256537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239339 S 1 0 1 "" NA18507 esv2215260 10 118255116 118255690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654803 S 1 0 1 "" NA18507 esv1365756 10 118255299 118255622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648972 S 2 0 1 "" HuRef esv8170 10 118255307 118255625 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30611 S 1 0 1 "" SJK esv2195913 10 118322461 118322892 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562853 S 1 0 1 "" NA18507 esv1523619 10 118383169 118383169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686776 S 2 1 0 PNLIPRP2 HuRef esv2092121 10 118447348 118447760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857348 S 1 0 1 HSPA12A NA18507 nsv825576 10 118463896 118516661 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439091 S 31 1 0 HSPA12A NA18973 esv1009263 10 118481853 118481853 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573646 S 3 1 0 HSPA12A HuRef esv1124964 10 118481854 118481854 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205206 S 2 1 0 HSPA12A HuRef nsv7562 10 118488381 118533328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5321 S 9 0 1 HSPA12A NA19129 esv21650 10 118756128 118758916 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11358 S 451 0 2 "" NA12287,NA12878 nsv832002 10 118787060 118995830 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448767,nssv1448768 M 95 1 1 KCNK18,MIR3663,SLC18A2,VAX1 nsv7563 10 118820375 118854229 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2851 S 9 1 0 "" NA18555 esv1130930 10 118876290 118876290 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162318 S 2 1 0 "" HuRef nsv825577 10 118877627 118895948 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426902 S 31 1 0 VAX1 AK6 nsv896038 10 118907661 118992657 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597813 S 6533 1 0 KCNK18,MIR3663,SLC18A2 IS41068 esv34075 10 118949353 118957594 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 KCNK18 nsv7564 10 119025286 119058279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6419 S 9 1 0 PDZD8,SLC18A2 NA12156 esv2645763 10 119031190 119032543 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284705 S 1 0 1 "" NA18507 nsv825578 10 119060992 119061812 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421967 S 31 0 1 PDZD8 NA18997 esv1007152 10 119083929 119093168 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564071 S 3 0 1 PDZD8 HuRef nsv7565 10 119157451 119202519 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8850 S 9 0 1 "" NA12156 nsv509367 10 119163991 119272134 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623781 S 4 1 0 EMX2OS NA18994 nsv516718 10 119198159 119200365 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663274,nssv670431 M 2026 2 0 "" esv8746 10 119209074 119209430 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31187 S 1 0 1 "" SJK esv1009503 10 119250201 119250678 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587113 S 3 0 1 EMX2OS HuRef nsv825579 10 119275659 119305896 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428503 S 31 1 0 EMX2,EMX2OS AK10 nsv832003 10 119280852 119477782 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448769 S 95 0 1 EMX2,EMX2OS nsv520464 10 119285919 119326982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697436 S 2026 0 1 EMX2,EMX2OS esv2160203 10 119320059 119320585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986333 S 1 0 1 "" NA18507 esv3004 10 119320165 119320619 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25445 S 1 0 1 Single Asian sample YH "" YH esv990666 10 119320239 119320421 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573509 S 3 0 1 "" HuRef esv270749 10 119330609 119330694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514468 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv818785 10 119436858 119441522 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417726 S 112 0 1 "" NA19003 nsv896039 10 119479565 119554133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553665 S 6533 0 1 "" MS20237 esv2543404 10 119623629 119625264 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211016 S 1 0 1 "" NA18507 esv2056314 10 119624084 119624793 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586537 S 1 0 1 "" NA18507 esv5078 10 119624142 119624708 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27519 S 1 0 1 Single Asian sample YH "" YH esv2482178 10 119624265 119624595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363645 S 1 0 1 "" NA18507 esv990450 10 119624268 119624598 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568613 S 3 0 1 "" HuRef esv1517570 10 119624273 119624604 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736329 S 2 0 1 "" HuRef esv5696 10 119624276 119624589 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28137 S 1 0 1 "" SJK nsv832005 10 119639860 119786456 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448770 S 95 1 0 RAB11FIP2 nsv516870 10 119695428 119778173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685789,nssv654601 M 2026 0 2 RAB11FIP2 nsv825580 10 119756533 119757236 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425184 S 31 1 0 RAB11FIP2 AK2 nsv7566 10 119766603 119811820 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8851 S 9 0 1 CASC2,RAB11FIP2 NA12156 nsv528184 10 119768381 119783432 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704739 S 2026 0 1 RAB11FIP2 nsv7567 10 119774049 119806725 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6420 S 9 1 0 CASC2,RAB11FIP2 NA12156 nsv819998 10 119803404 119803792 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418932 S 2 0 1 CASC2 AK1 esv2580643 10 119820652 119822085 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197309 S 1 0 1 CASC2 NA18507 esv1289381 10 119947447 119947447 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078293 S 2 1 0 CASC2 HuRef esv1573329 10 119947742 119947742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159787 S 2 1 0 CASC2 HuRef esv1538733 10 119947750 119947750 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872183 S 2 1 0 CASC2 HuRef esv1096716 10 119947763 119947763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344935 S 2 1 0 CASC2 HuRef esv2565843 10 119968545 119970175 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234382 S 1 0 1 "" NA18507 esv1936491 10 119968990 119969699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637998 S 1 0 1 "" NA18507 esv2604769 10 119969192 119969506 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317286 S 1 0 1 "" NA18507 esv2511647 10 119976248 119977818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203471 S 1 0 1 "" NA18507 esv2563990 10 120031966 120032966 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183274 S 1 1 0 "" NA18507 nsv825581 10 120095452 120096658 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427618 S 31 0 1 "" NA18547 esv270466 10 120173424 120176374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510091,essv2493294,essv2498377,essv2508766,essv2497240,essv2499994,essv2508249,essv2506365,essv2511250,essv2500142,essv2512640,essv2496054,essv2499274,essv2504719,essv2502018,essv2511489 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11829,NA18504,NA18526,NA18532,NA18552,NA18558,NA18561,NA18566,NA18570,NA18573,NA18577,NA18603,NA18605,NA19099,NA19257 esv5932 10 120234526 120234616 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28373 S 1 1 0 "" SJK nsv832006 10 120307375 120508913 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448771 S 95 1 0 C10orf46,PRLHR nsv521518 10 120323723 120332855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698135 S 2026 0 1 "" nsv7569 10 120328309 120360611 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5322 S 9 1 0 PRLHR NA19129 nsv24391 10 120434774 120434774 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42969 M 24 C10orf46 esv24145 10 120519813 120520733 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11035 S 451 0 1 "" NA11995 nsv523236 10 120551086 120577255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698962 S 2026 0 1 "" esv23436 10 120565902 120566521 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11790 S 451 0 1 "" NA18916 esv271122 10 120637623 120637708 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513861 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv516795 10 120679836 120680822 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674891,nssv671387,nssv660027,nssv662920,nssv670948 M 2026 3 2 "" nsv518658 10 120693675 120696565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696108 S 2026 0 1 "" nsv527630 10 120693675 120698157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704098 S 2026 0 1 "" nsv825582 10 120750461 120828904 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439092 S 31 1 0 EIF3A,NANOS1,SNORA19 NA18973 esv990531 10 120829667 120829855 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568070 S 3 0 1 EIF3A HuRef esv23185 10 120885873 120887486 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16810 S 451 1 0 FAM45A,FAM45B NA12878 nsv825583 10 120914629 120917560 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421968 S 31 1 0 PRDX3,SFXN4 NA18997 nsv825584 10 120917291 120978766 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439093 S 31 1 0 GRK5,PRDX3 NA18973 esv1002455 10 121051331 121060084 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563834 S 3 0 1 GRK5 HuRef dgv827n71 10 121052058 121215342 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896040,nsv896041 M 6533 0 2 GRK5,MIR4681 MS10311,MS16153 nsv832007 10 121088268 121281904 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448772 S 95 1 0 GRK5,MIR4681,RGS10 nsv896042 10 121130311 121177759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546748 S 6533 0 1 GRK5 MS17208 nsv522432 10 121139393 121186052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705788 S 2026 0 1 GRK5 esv2639258 10 121143184 121144749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389543 S 1 0 1 GRK5 NA18507 esv4668 10 121143992 121144382 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27109 S 1 0 1 Single Asian sample YH GRK5 YH nsv896043 10 121151788 121202395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597308,nssv1537113 M 6533 0 2 GRK5 IS40799,MS13095 esv9149 10 121176464 121176839 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31590 S 1 0 1 GRK5 SJK esv1752195 10 121176828 121176828 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937790 S 2 1 0 GRK5 HuRef nsv7570 10 121275052 121300459 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1911 S 9 1 0 RGS10 NA18555 esv999424 10 121295704 121297918 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563994 S 3 1 0 "" HuRef nsv513019 10 121296702 121296855 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625678 S 1 1 0 "" 1 esv1168556 10 121375133 121375133 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741611 S 2 1 0 "" HuRef nsv825585 10 121397582 121511033 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439094 S 31 1 0 BAG3,INPP5F NA18973 nsv522347 10 121418818 121422914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695127 S 2026 0 1 BAG3 nsv896044 10 121430697 121723983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542939 S 6533 1 0 INPP5F,MCMBP,MIR4682,SEC23IP MS15972 esv1309933 10 121544539 121544768 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809095 S 2 0 1 INPP5F HuRef nsv7571 10 121585406 121620064 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2852 S 9 1 0 MCMBP NA18555 esv259861 10 121613982 121614677 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396822,essv2396301,essv2397887,essv2395428,essv2396996 M 144 0 0 Samples from several populations that are part of the HapMap project. MCMBP NA12155,NA18558,NA18577,NA18948,NA18973 esv2064555 10 121702919 121703334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864083 S 1 0 1 "" NA18507 esv26120 10 121826391 121827805 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14171 S 451 1 0 "" NA19129 esv1669646 10 121964635 121964635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761806 S 2 1 0 "" HuRef esv26539 10 121981976 121982440 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11110 S 451 1 0 "" NA18511 esv2068026 10 122108013 122108442 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798370 S 1 0 1 "" NA18507 nsv24511 10 122121017 122127475 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43089 M 24 "" esv272717 10 122130552 122130711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580153,essv2580493 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv270496 10 122130554 122130710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507956,essv2502512,essv2503767,essv2504051,essv2509744,essv2494993,essv2499953,essv2504516,essv2506384,essv2511254,essv2500625,essv2507616,essv2508686,essv2499227,essv2501634,essv2507528,essv2513392,essv2505486,essv2495930,essv2502741,essv2496897,essv2512093,essv2498016,essv2495022 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12003,NA12750,NA12761,NA18505,NA18508,NA18520,NA18558,NA18563,NA18566,NA18570,NA18571,NA18576,NA18592,NA18605,NA18608,NA18638,NA18907,NA18952,NA18961,NA18965,NA19190,NA19238,NA19240 esv1386349 10 122130593 122130593 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643001 S 2 1 0 "" HuRef nsv508610 10 122141330 122221590 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620152,nssv618968,nssv622765 M 4 0 3 PPAPDC1A NA10860,NA15510,NA18994 nsv510236 10 122160142 122166142 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618333 S 4 0 1 "" CHM nsv7572 10 122196735 122224051 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8852 S 9 0 1 PPAPDC1A NA12156 nsv436106 10 122214392 122221501 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466620 S 2 0 1 Samples from several populations that are part of the HapMap project. PPAPDC1A NA18505 esv995047 10 122214705 122219581 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565820 S 3 0 1 PPAPDC1A HuRef nsv511435 10 122215968 122221235 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626047 S 1 0 1 PPAPDC1A 1 esv2546781 10 122216072 122219525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188918 S 1 0 1 PPAPDC1A NA18507 nsv512187 10 122216553 122218994 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624753 S 1 0 1 PPAPDC1A 1 nsv498743 10 122216644 122218799 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586351 S 9 0 1 PPAPDC1A dgv17e180 10 122216709 122218483 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008475,esv1010002 M 3 1 0 PPAPDC1A HuRef dgv174n67 10 122216709 122218702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825589,nsv825590,nsv825588 M 31 0 30 PPAPDC1A AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821211 10 122216709 122218702 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420897 S 1 0 1 PPAPDC1A NA10851 esv26675 10 122216913 122218702 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21352 S 451 19 0 PPAPDC1A NA07045,NA12004,NA12044,NA12414,NA12749,NA18502,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv528787 10 122336055 122471952 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705457 S 2026 1 0 PPAPDC1A dgv828n71 10 122373794 122408307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896045,nsv896046 M 6533 0 6 "" IS34701,IS34733,IS37687,IS38378,IS40343,SP56724 nsv437694 10 122384204 122397176 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467575 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 nsv438180 10 122385300 122392390 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470318,nssv470313,nssv470316,nssv470317,nssv470315,nssv470314 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA19099,NA19100,NA19128,NA19129,NA19141,NA19142 nsv518322 10 122431376 122451473 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695752 S 2026 1 0 "" esv1093594 10 122482843 122483098 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641282 S 2 0 1 "" HuRef esv1400388 10 122483293 122483293 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708370 S 2 1 0 "" HuRef esv275336 10 122499552 122501106 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585830,essv2585782 M 1250 1 1 "" nsv522409 10 122502825 122520128 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695191 S 2026 0 1 LOC283089 esv25404 10 122538262 122543245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11664,esv10407 M 451 0 4 LOC283089 NA18511,NA19099,NA19129,NA19257 nsv525609 10 122593981 122626720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701754 S 2026 0 1 LOC283089,WDR11 esv1556377 10 122595367 122595431 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159203 S 2 0 1 LOC283089 HuRef dgv321e1 10 122625702 122891863 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13056,essv11565 M 271 0 0 WDR11 NA18852,NA19173 nsv428239 10 122625702 123388488 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451967,nssv451968 M 62 1 1 FGFR2,WDR11 HGDP00449,NA19108 nsv7573 10 122646703 122673091 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9935 S 9 1 0 WDR11 NA18507 esv269915 10 122652156 122658258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512580,essv2510696,essv2509785,essv2496173,essv2501101,essv2509061,essv2506109,essv2505232,essv2493945,essv2501483,essv2506855,essv2498994,essv2497622 M 157 13 0 Samples from several populations that are part of the HapMap project. WDR11 NA18489,NA18501,NA18508,NA18511,NA18516,NA18522,NA18523,NA18853,NA18871,NA19093,NA19102,NA19114,NA19147 nsv517219 10 122659198 122672799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654045,nssv670814,nssv682860,nssv672725 M 2026 0 4 "" nsv7574 10 122684391 122717992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8853 S 9 1 0 "" NA12156 esv2642168 10 122690717 122692200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239037 S 1 0 1 "" NA18507 esv2152829 10 122690941 122691625 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950360 S 1 0 1 "" NA18507 esv7832 10 122691110 122691417 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30273 S 1 0 1 "" SJK esv1002587 10 122691122 122691418 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580994 S 3 0 1 "" HuRef nsv24772 10 122691130 122691421 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43350 M 24 "" essv10073 10 122709923 122891863 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19099 nsv516037 10 122726411 122754171 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657652,nssv665856,nssv667613,nssv661132,nssv671440,nssv654984 M 2026 0 6 "" nsv437695 10 122754171 122778144 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467576 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv896047 10 122759266 122777752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562564 S 6533 0 1 "" MS25648 nsv516918 10 122759266 122779808 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692793,nssv674016,nssv687434,nssv688985,nssv686197,nssv673578,nssv656383,nssv690434,nssv663461,nssv680851,nssv671622,nssv686594,nssv673774,nssv688253,nssv653476,nssv678042,nssv676312,nssv656536,nssv657780,nssv669668,nssv659291,nssv686923,nssv668802,nssv654032,nssv680571,nssv664228,nssv662007,nssv677119,nssv672064,nssv678860,nssv662184,nssv669168,nssv685346,nssv691862,nssv672726,nssv664135,nssv686630,nssv663569,nssv674432,nssv652547,nssv666918,nssv692983,nssv664154,nssv658926,nssv675014,nssv679791,nssv685706,nssv668166,nssv667114,nssv662352,nssv663436,nssv683207,nssv661667,nssv684559,nssv680903,nssv652614,nssv659260,nssv680335,nssv668936,nssv651737,nssv660534,nssv690733,nssv656691,nssv662457,nssv655299,nssv667240,nssv667556,nssv654561,nssv675621,nssv688166,nssv663510,nssv672412,nssv671539,nssv683138,nssv672885,nssv680622,nssv689282,nssv664301,nssv681522,nssv655396,nssv651766,nssv678182,nssv686827,nssv654307,nssv653182,nssv680388,nssv665792,nssv688514,nssv657268,nssv676405,nssv666428,nssv655748,nssv693955,nssv693657,nssv676976,nssv687860,nssv653204,nssv652756,nssv664329,nssv653527,nssv652649,nssv660298,nssv666938,nssv664844,nssv686307,nssv656580,nssv690147,nssv660819,nssv671461,nssv677014,nssv675141,nssv677502,nssv674551,nssv690908,nssv663981,nssv671666,nssv653641,nssv664910,nssv670037,nssv679394,nssv667972,nssv656272,nssv674967,nssv672258,nssv683374,nssv659700,nssv657488,nssv679419,nssv682413,nssv675329,nssv662554,nssv682393,nssv682280,nssv687167,nssv681604,nssv669861,nssv653591,nssv655143,nssv667911,nssv676071,nssv657363,nssv680929 M 2026 2 140 "" esv24630 10 122759741 122777506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14550 S 451 0 6 "" NA18511,NA18909,NA18916,NA19099,NA19108,NA19257 nsv8728 10 122759805 122777871 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23019,nssv19220,nssv19679,nssv22197,nssv19709 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18853,NA18860,NA19132,NA19173 dgv120n27 10 122759878 122774992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467464,nsv467463,nsv467462,nsv467465,nsv467466 M 1557 0 5 "" HGDP00620,HGDP01028,HGDP01405,HGDP01408,NINDS_142 esv2421611 10 122759878 122774992 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059246,essv5106786,essv5110750,essv5088479,essv5120850,essv5008639,essv5024563,essv5136609,essv5123574,essv5127441,essv5067755,essv5158849,essv5086517,essv5080773,essv5103209,essv5128571,essv5160407,essv5115601,essv5068696,essv5003519,essv5108243,essv5103061,essv5114600,essv5155565,essv5008999,essv5041323,essv5037518,essv5153913,essv5108437,essv5129913,essv5102149,essv5116014,essv5080572,essv5139053,essv5086073,essv5091447,essv5079508,essv5086383,essv5082127,essv5047639,essv5013867,essv5099847,essv5034438,essv5010666,essv5058437,essv5012795,essv5148859,essv5085474,essv5095999,essv5040725,essv5146297,essv5057622,essv5091165,essv5106028,essv5090279,essv5109447,essv5048240,essv5002945,essv5101758,essv5136919,essv5092007,essv5007260,essv5073797,essv5066943,essv5085990,essv5004737,essv5039946,essv5062171,essv5017751,essv5115195,essv5043689,essv5061167,essv5032951,essv5114045,essv5140407,essv5112009,essv5149218,essv5148218,essv5059302,essv5105188,essv5085219,essv5155462,essv5054937,essv5085435,essv5117462,essv5003582,essv5009570,essv5051924,essv5081757,essv5120657,essv5067540,essv5028657,essv5022818,essv5031007,essv5038168,essv5032978,essv5096969,essv5079461,essv5043549,essv5078904,essv5103820,essv5119371,essv5017243,essv5130599,essv5138607,essv5008619,essv5016443,essv5032579,essv5075832,essv5006283,essv5102175,essv5129591,essv5149071,essv5010806,essv5083980,essv5122261,essv5053712,essv5031845,essv5100452,essv5115546,essv5005669,essv5093350,essv5046105,essv5012202,essv5023105,essv5055201,essv5126418,essv5039854,essv5074565,essv5031804,essv5107573,essv5052151,essv5147300,essv5114876,essv5003857,essv5045412,essv5045057,essv5032029 M 1184 0 138 "" NA18485,NA18487,NA18509,NA18511,NA18515,NA18516,NA18852,NA18853,NA18854,NA18859,NA18860,NA18867,NA18870,NA18872,NA18874,NA18875,NA18909,NA18911,NA18916,NA18924,NA18925,NA18930,NA18933,NA18935,NA19031,NA19035,NA19046,NA19095,NA19096,NA19097,NA19099,NA19102,NA19103,NA19108,NA19109,NA19131,NA19132,NA19143,NA19150,NA19171,NA19172,NA19173,NA19178,NA19180,NA19185,NA19186,NA19189,NA19193,NA19194,NA19197,NA19199,NA19203,NA19214,NA19224,NA19226,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19309,NA19317,NA19318,NA19327,NA19359,NA19379,NA19391,NA19394,NA19403,NA19429,NA19434,NA19444,NA19449,NA19451,NA19452,NA19467,NA19700,NA19708,NA19712,NA19818,NA19828,NA19835,NA19836,NA19901,NA19902,NA19985,NA20126,NA20127,NA20128,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20297,NA20301,NA20302,NA20335,NA20342,NA20349,NA20350,NA21307,NA21308,NA21336,NA21355,NA21360,NA21361,NA21381,NA21385,NA21399,NA21402,NA21404,NA21405,NA21408,NA21436,NA21448,NA21457,NA21473,NA21475,NA21477,NA21485,NA21487,NA21488,NA21513,NA21514,NA21574,NA21576,NA21582,NA21613,NA21616,NA21648,NA21683,NA21686,NA21716,NA21740,NA21826 nsv818786 10 122759878 122774992 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418486,nssv1417907,nssv1418177,nssv1416586,nssv1417906,nssv1416468,nssv1417905,nssv1416585,nssv1418178,nssv1416469,nssv1416584,nssv1418487 M 112 0 12 "" NA18515,NA18516,NA18852,NA18853,NA18854,NA19143,NA19145,NA19171,NA19172,NA19173,NA19193,NA19194 nsv470970 10 122759878 122779808 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544985,nssv544996,nssv544995,nssv544997,nssv544990,nssv544982,nssv544999,nssv544984,nssv544989,nssv545000,nssv544986,nssv544993,nssv544994,nssv544980,nssv544988,nssv544983,nssv544981,nssv545002,nssv544991,nssv544992,nssv545001 M 443 0 21 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00466,HGDP00475,HGDP00477,HGDP00620,HGDP00910,HGDP00912,HGDP00917,HGDP00920,HGDP00921,HGDP00937,HGDP01028,HGDP01084,HGDP01085,HGDP01256,HGDP01259,HGDP01285,HGDP01405,HGDP01408,HGDP01413,HGDP01417,HGDP01418 nsv442208 10 122760653 122766583 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514540 10 122760672 122761328 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628076 S 1414 0 1 "" esv2601480 10 122761794 122763266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179413 S 1 0 1 "" NA18507 dgv30n17 10 122765938 122778144 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437696,nsv437697,nsv437698 M 60 0 3 "" NA18854,NA19173,NA19194 nsv832008 10 122847905 123036763 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448774 S 95 1 0 "" nsv470972 10 122897888 123231783 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545003 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FGFR2 HGDP00449 nsv7575 10 122911888 122956539 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3902 S 9 0 1 "" NA12878 nsv517064 10 122931371 122946738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667740,nssv674190,nssv690030,nssv689890,nssv673368,nssv657828,nssv670850,nssv665574,nssv685862,nssv653715 M 2026 0 10 "" nsv24449 10 122990625 122991783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43027 M 24 "" nsv516734 10 122994629 122997016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676537,nssv692770,nssv670526 M 2026 0 3 "" nsv527518 10 122994629 123003732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703972 S 2026 0 1 "" nsv896048 10 123023539 123062077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598794 S 6533 0 1 "" IS40902 nsv896049 10 123145406 123225862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598070 S 6533 0 1 "" IS40902 nsv527088 10 123183828 123225862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703467 S 2026 0 1 "" esv25137 10 123187453 123188801 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16359 S 451 1 0 "" NA18858 esv273578 10 123218946 123219279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582047,essv2583170,essv2584690,essv2583809 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv269216 10 123218948 123219279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575865,essv2531925,essv2577464,essv2550856,essv2534960,essv2544428,essv2520484,essv2547331,essv2558702,essv2559675,essv2554996,essv2537430,essv2546926,essv2552457,essv2569364,essv2578739,essv2536944,essv2544875,essv2552902,essv2541270,essv2565186,essv2519612,essv2559910,essv2521916,essv2566170,essv2532878,essv2567725,essv2535509,essv2572370,essv2559011,essv2569149,essv2573150,essv2555362,essv2527558,essv2522556,essv2573289,essv2575738,essv2575142,essv2526331,essv2524116,essv2560903,essv2574948,essv2530263,essv2572892,essv2545119,essv2549700,essv2545839,essv2574277,essv2551632,essv2536340,essv2533153,essv2554525,essv2525046 M 157 53 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07357,NA11830,NA12006,NA12043,NA12155,NA12249,NA12414,NA12716,NA12717,NA12750,NA12776,NA12872,NA12878,NA12892,NA18502,NA18508,NA18510,NA18517,NA18526,NA18542,NA18545,NA18558,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18608,NA18609,NA18638,NA18861,NA18942,NA18943,NA18952,NA18960,NA18969,NA19099,NA19102,NA19114,NA19129,NA19137,NA19138,NA19141,NA19143,NA19172,NA19225,NA19239,NA19240,NA19257 nsv825591 10 123219883 123222011 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432273 S 31 0 1 "" AK20 esv1049168 10 123334267 123334383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319856 S 2 0 1 FGFR2 HuRef nsv7576 10 123411135 123413528 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10780 S 9 1 0 "" NA18956 nsv7577 10 123412436 123453693 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6421 S 9 0 1 "" NA12156 esv34777 10 123421836 123451000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978718,essv6989040,essv6988036 M 771 0 1 "" NA12156 esv22355 10 123423427 123448743 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14123 S 451 0 1 "" NA12156 nsv467467 10 123426236 123428112 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542755 S 1557 0 1 "" 1780862066_A nsv433262 10 123426236 123446260 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463143 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 nsv517548 10 123426236 123451056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682314,nssv677717,nssv652814,nssv655079,nssv671142,nssv667281,nssv683972,nssv652334 M 2026 0 8 "" essv18482 10 123426455 123451644 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12156 nsv825592 10 123461659 123466711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425188 S 31 0 1 "" AK2 nsv528446 10 123462020 123465435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705041 S 2026 0 1 "" esv2133184 10 123478985 123479685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890786 S 1 0 1 "" NA18507 esv4279 10 123479128 123479597 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26720 S 1 0 1 Single Asian sample YH "" YH nsv24989 10 123479171 123479484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43567 M 24 "" nsv896050 10 123499677 123581534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589325 S 6533 0 1 ATE1 IS38337 esv269838 10 123526949 123527273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520951,essv2556990,essv2558775,essv2537122,essv2575778,essv2524229,essv2572887 M 157 7 0 Samples from several populations that are part of the HapMap project. ATE1 NA18498,NA18501,NA18516,NA18517,NA19099,NA19129,NA19143 nsv896051 10 123536554 123766885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574939 S 6533 0 1 ATE1,NSMCE4A,TACC2 IS33669 nsv896052 10 123581534 123691349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557412 S 6533 0 1 ATE1 MS22662 nsv896053 10 123597624 123734561 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571219 S 6533 1 0 ATE1,NSMCE4A IS32644 esv3814 10 123694762 123696385 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26255 S 1 0 1 Single Asian sample YH "" YH nsv832009 10 123764473 123939046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448775 S 95 0 1 TACC2 esv34167 10 123824166 123997563 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 TACC2 nsv519434 10 123832513 123836480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656193,nssv689058 M 2026 0 2 TACC2 nsv526940 10 123839455 123839595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703308 S 2026 0 1 TACC2 nsv896054 10 123848714 123898315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561589 S 6533 0 1 TACC2 MS25112 nsv896055 10 123871168 123981764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597552 S 6533 0 1 TACC2 IS40902 dgv829n71 10 123882864 123923913 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896056,nsv896060 M 6533 0 5 TACC2 IS34996,IS35605,MS19771,MS20195,MS20286 nsv896057 10 123891954 123903320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553879 S 6533 0 1 TACC2 MS20359 dgv830n71 10 123891954 123916300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896059,nsv896058 M 6533 0 12 TACC2 IS35492,IS35622,IS36131,IS37428,MS14485,MS19587,MS19630,MS19721,MS19798,MS20237,MS22611,MS24073 dgv831n71 10 123891954 123955668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896062,nsv896061 M 6533 0 3 TACC2 IS35701,IS37443,MS19277 nsv467468 10 123893123 123903320 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542756 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TACC2 HGDP01169 nsv521165 10 123898801 123901335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686481,nssv683555 M 2026 0 2 TACC2 esv1958270 10 123949770 123950168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733181 S 1 0 1 TACC2 NA18507 nsv825593 10 123969593 123970071 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425992 S 31 1 0 TACC2 AK4 esv275180 10 123999660 124003594 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585515,essv2585371 M 1250 1 1 TACC2 nsv7578 10 124088603 124134052 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5323 S 9 0 1 PLEKHA1 NA19129 nsv825594 10 124183770 124255215 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439097 S 31 1 0 ARMS2,HTRA1 NA18973 nsv7580 10 124195782 124240486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8854 S 9 0 1 ARMS2,HTRA1 NA12156 esv28769 10 124206745 124207345 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14746 S 451 0 2 ARMS2 NA11995,NA18861 esv9290 10 124206792 124207263 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31731 S 1 0 1 ARMS2 SJK nsv516138 10 124230775 124232807 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667307,nssv659478,nssv666446 M 2026 0 3 HTRA1 nsv8729 10 124247230 124253028 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22523 S 31 0 1 Samples from several populations that are part of the HapMap project. HTRA1 NA18972 nsv896063 10 124252434 124407890 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592677 S 6533 1 0 DMBT1,HTRA1 IS39243 dgv322e1 10 124253065 124444805 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8859,essv313,essv3067,essv10101,essv4198,essv4814,essv5829,essv13718,essv12852,essv8196,essv7388,essv14425,essv11572,essv10943,essv17083,essv247,essv17806,essv1629,essv430,essv778,essv19677,essv5108,essv5378 M 271 0 0 DMBT1,HTRA1 NA10831,NA12264,NA18508,NA18526,NA18563,NA18566,NA18577,NA18620,NA18623,NA18942,NA18948,NA18952,NA18956,NA18978,NA18981,NA19116,NA19119,NA19120,NA19130,NA19172,NA19173,NA19201,NA19209 nsv428240 10 124253065 124444805 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451970,nssv451976,nssv451969,nssv451974,nssv451971,nssv451973,nssv451972 M 62 6 1 DMBT1,HTRA1 HGDP00471,HGDP01086,HGDP01093,NA18498,NA19096,NA19181,NA19189 esv23096 10 124295811 124366814 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21042,esv15836,esv17185,esv19819,esv14101,esv10406,esv12129 M 451 38 33 DMBT1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv508611 10 124312325 124380491 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617384,nssv618970,nssv622769 M 4 0 3 DMBT1 CHM,NA10860,NA18994 nsv8730 10 124312843 124315758 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17809 S 31 1 0 Samples from several populations that are part of the HapMap project. DMBT1 NA18572 nsv7581 10 124319442 124388839 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv967,nssv9808,nssv10782,nssv11244,nssv10781,nssv3903,nssv9263,nssv6422,nssv1912 M 9 0 8 DMBT1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19240 nsv55 10 124325281 124336870 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv55 S 1 1 0 DMBT1 NA15510 nsv7582 10 124325281 124336870 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11243 S 9 1 0 DMBT1 NA15510 nsv825595 10 124328898 124341923 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425189 S 31 1 0 DMBT1 AK2 nsv8731 10 124328905 124371700 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24673,nssv19739,nssv17839,nssv18834,nssv21463,nssv21822,nssv19899,nssv23047,nssv19615,nssv19929,nssv21751,nssv20027,nssv18804,nssv19280,nssv21792,nssv22124,nssv17932,nssv19533,nssv18482,nssv20317,nssv19997,nssv19246,nssv22227,nssv19196,nssv17620,nssv17561,nssv19545,nssv20287,nssv19645,nssv21373,nssv19668,nssv19575,nssv17869,nssv19276,nssv19226,nssv19250,nssv18512,nssv20318,nssv22257,nssv21852,nssv17855,nssv22583,nssv19534,nssv19236,nssv22154,nssv22553,nssv19564,nssv20578 M 31 23 19 Samples from several populations that are part of the HapMap project. DMBT1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819547 10 124328915 124368832 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418731 S 2 1 0 DMBT1 AK1 nsv499308 10 124329825 124371534 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585633 S 9 0 1 DMBT1 nsv825596 10 124330302 124350672 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438326,nssv1433856,nssv1432275,nssv1426905,nssv1440535,nssv1427693 M 31 0 6 DMBT1 AK20,AK6,AK8,NA18526,NA18564,NA18951 nsv436043 10 124331169 124340654 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466621 S 2 1 0 DMBT1 NA15510 nsv442592 10 124331524 124341001 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DMBT1 esv2422149 10 124331524 124341587 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5127082,essv5045450,essv5124383,essv5012785,essv5146477,essv5008871,essv5049518,essv5047698,essv5048286,essv5102645,essv5149723,essv5106939,essv5104432,essv5095438,essv5101069,essv5047331,essv5085927,essv5041962,essv5003833,essv5127601,essv5083773,essv5108562,essv5150983,essv5156322,essv5081705,essv5028093,essv5089135,essv5053488,essv5089401,essv5026430,essv5136674,essv5070734,essv5087724,essv5004164,essv5045913,essv5030731,essv5092238,essv5074278,essv5046116,essv5156596,essv5023929,essv5104932,essv5089926,essv5050775,essv5036551,essv5016076,essv5135705,essv5104652,essv5121821,essv5145134,essv5133932,essv5127481,essv5046134,essv5132981,essv5126353,essv5093094,essv5027060,essv5106539,essv5077696,essv5112088,essv5077701,essv5040612,essv5142497,essv5117152,essv5128766,essv5148909,essv5075905,essv5057912,essv5147168,essv5132588,essv5080712,essv5083842,essv5056717,essv5103727,essv5115608,essv5005890,essv5011527,essv5116454,essv5118590,essv5057801,essv5102268,essv5017856,essv5082705,essv5152730,essv5025465,essv5080235,essv5007699,essv5011348,essv5084338,essv5094868,essv5025200,essv5002865,essv5125503,essv5057236,essv5054222,essv5043610,essv5036053,essv5086943,essv5079287,essv5091788,essv5151467,essv5135761,essv5009089,essv5109969,essv5131456,essv5099093,essv5055202,essv5115496,essv5093536,essv5122932,essv5002847,essv5067038,essv5065378,essv5046087,essv5159884,essv5097226,essv5051654,essv5067608,essv5130168,essv5049420,essv5029981,essv5041145,essv5035035,essv5012225,essv5003971,essv5116292,essv5067896,essv5088303,essv5045031,essv5086213,essv5149843,essv5046581,essv5082538,essv5058109,essv5088092,essv5019393,essv5129996,essv5122121,essv5149541,essv5099118,essv5031407,essv5117512,essv5042602,essv5015840,essv5129483,essv5148214,essv5120823,essv5114518,essv5076255,essv5118561,essv5146579,essv5069917,essv5155302 M 1184 0 153 DMBT1 NA06985,NA06986,NA07435,NA10838,NA10850,NA10863,NA10865,NA11891,NA11894,NA12056,NA12156,NA12264,NA12275,NA12344,NA12347,NA12383,NA12399,NA12400,NA12739,NA12748,NA12752,NA12760,NA12761,NA12802,NA12815,NA12843,NA17969,NA17970,NA17976,NA17979,NA17986,NA17987,NA18105,NA18109,NA18112,NA18124,NA18131,NA18149,NA18150,NA18157,NA18161,NA18526,NA18555,NA18557,NA18564,NA18566,NA18577,NA18594,NA18595,NA18603,NA18605,NA18609,NA18611,NA18616,NA18619,NA18623,NA18627,NA18631,NA18633,NA18638,NA18640,NA18643,NA18674,NA18694,NA18740,NA18747,NA18942,NA18943,NA18948,NA18951,NA18952,NA18953,NA18955,NA18956,NA18976,NA18978,NA18981,NA18995,NA18998,NA19009,NA19059,NA19065,NA19074,NA19079,NA19097,NA19138,NA19144,NA19160,NA19311,NA19394,NA19436,NA19663,NA19676,NA19677,NA19760,NA19774,NA19794,NA19796,NA20502,NA20508,NA20517,NA20534,NA20535,NA20542,NA20543,NA20582,NA20588,NA20755,NA20760,NA20768,NA20769,NA20771,NA20792,NA20812,NA20846,NA20854,NA20856,NA20859,NA20861,NA20873,NA20875,NA20877,NA20884,NA20889,NA20894,NA20898,NA20900,NA20909,NA20910,NA21086,NA21094,NA21097,NA21102,NA21109,NA21111,NA21112,NA21117,NA21123,NA21144,NA21313,NA21390,NA21408,NA21417,NA21423,NA21438,NA21440,NA21441,NA21442,NA21454,NA21490,NA21611,NA21717,NA21723 nsv820718 10 124332519 124341923 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420898 S 1 0 1 DMBT1 NA10851 dgv175n67 10 124334449 124341923 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825599,nsv825597 M 31 5 0 DMBT1 AK10,AK14,NA18552,NA18592,NA18968 dgv176n67 10 124335349 124341284 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825601,nsv825600 M 31 0 3 DMBT1 AK18,NA18566,NA18942 esv33340 10 124335393 124341605 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97547,essv101398,essv95270,essv92748,essv93739,essv97205,essv94296 M 51 0 7 DMBT1 21616,21805,21872,21944,21972,22075,22394 nsv514541 10 124335904 124341264 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627102 S 1414 0 0 DMBT1 nsv7583 10 124342051 124369026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5324 S 9 1 0 DMBT1 NA19129 nsv507579 10 124344478 124350478 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620681 S 4 1 0 DMBT1 NA15510 nsv56 10 124347949 124377296 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv56 S 1 0 1 DMBT1 NA15510 nsv821496 10 124348337 124366882 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420899 S 1 1 0 DMBT1 NA10851 esv1000689 10 124350253 124367546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565003 S 3 0 1 DMBT1 HuRef nsv499097 10 124352774 124368514 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585634 S 9 0 1 DMBT1 nsv514542 10 124380760 124383280 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627103 S 1414 0 0 DMBT1 nsv24315 10 124393706 124393706 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42893 M 24 "" esv2362486 10 124418581 124419024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590980 S 1 0 1 "" NA18507 esv22906 10 124430299 124431630 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14049 S 451 1 0 "" NA12239 nsv7584 10 124431828 124461678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3904,nssv8855 M 9 2 0 C10orf120 NA12156,NA12878 nsv509370 10 124440399 124452093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623787,nssv619796 M 4 2 0 C10orf120 NA10860,NA18994 esv272894 10 124445187 124451253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582093,essv2582697,essv2582795 M 7 3 0 Samples from several populations that are part of the HapMap project. C10orf120 NA12878,NA12891,NA12892 esv270924 10 124445190 124451275 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565729,essv2575859,essv2540904,essv2525924,essv2543809,essv2568099,essv2576865,essv2550754,essv2525354,essv2550311,essv2554102,essv2520490,essv2547200,essv2558565,essv2578029,essv2553758,essv2530695,essv2562138,essv2537258,essv2528645,essv2546744,essv2551810,essv2550136,essv2539104,essv2564822,essv2566329,essv2559234,essv2566730,essv2542160,essv2550899,essv2555433,essv2567217,essv2531470,essv2577051,essv2525813,essv2529500,essv2538752,essv2574628,essv2572620,essv2549763,essv2551301,essv2533143 M 157 42 0 Samples from several populations that are part of the HapMap project. C10orf120 NA07051,NA11829,NA11830,NA11831,NA11918,NA11992,NA11995,NA12154,NA12155,NA12156,NA12234,NA12287,NA12716,NA12717,NA12750,NA12761,NA12763,NA12873,NA12874,NA12878,NA12891,NA12892,NA18504,NA18511,NA18519,NA18558,NA18572,NA18638,NA18853,NA18856,NA18858,NA18943,NA18947,NA18961,NA18970,NA18980,NA19093,NA19108,NA19138,NA19143,NA19225,NA19257 nsv7585 10 124471051 124474410 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv968 S 9 1 0 "" NA19240 nsv896064 10 124496074 124596155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530690 S 6533 0 1 CUZD1,FAM24B-CUZD1,FLJ46361 MS10311 nsv25104 10 124536881 124537201 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43682 M 24 FLJ46361 esv270656 10 124553777 124554119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558109,essv2544134,essv2568379,essv2545291,essv2531850,essv2570596,essv2553634,essv2565280,essv2576400,essv2558802,essv2523930,essv2552777,essv2564989,essv2534690,essv2549328,essv2519521,essv2522042,essv2566046,essv2531029,essv2567795,essv2567368,essv2553161,essv2535848,essv2572235,essv2559025,essv2569180,essv2578400,essv2555382,essv2533551,essv2567256,essv2566620,essv2527651,essv2543239,essv2577111,essv2571994,essv2526654,essv2563324 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA10851,NA11992,NA11995,NA12003,NA12006,NA12044,NA12763,NA12812,NA12814,NA18516,NA18537,NA18542,NA18558,NA18561,NA18564,NA18566,NA18571,NA18572,NA18573,NA18577,NA18582,NA18605,NA18608,NA18609,NA18638,NA18861,NA18940,NA18943,NA18944,NA18947,NA18948,NA18952,NA18965,NA18970,NA18973,NA19114 nsv24903 10 124563358 124563517 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43481 M 24 "" nsv832010 10 124576470 124787380 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448779,nssv1448778,nssv1448776,nssv1448777 M 95 4 0 ACADSB,C10orf88,CUZD1,FAM24A,FAM24B,FAM24B-CUZD1,IKZF5,LOC399815,PSTK esv7958 10 124605778 124605872 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30399 S 1 1 0 FAM24B,FAM24B-CUZD1 SJK esv6242 10 124629777 124703011 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28683 S 1 0 0 C10orf88,FAM24A,LOC399815 SJK esv2453822 10 124725412 124726430 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183000 S 1 1 0 "" NA18507 esv269603 10 124725951 124726295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514658,essv2516671,essv2519182,essv2518749,essv2515291,essv2515069,essv2516529,essv2515600,essv2518115,essv2515874,essv2517872,essv2516292,essv2516851,essv2518983,essv2515185,essv2518889,essv2518417,essv2513654 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11881,NA11894,NA12045,NA12249,NA12812,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA19141,NA19238,NA19239,NA19240 esv274164 10 124725959 124726293 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581984,essv2582472,essv2583061,essv2584093,essv2584733,essv2583790 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1608173 10 124725980 124725980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602122 S 2 1 0 "" HuRef nsv7586 10 124732193 124765558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10783,nssv1913 M 9 2 0 ACADSB,IKZF5,PSTK NA18555,NA18956 nsv7587 10 124946768 124978091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8856 S 9 0 1 "" NA12156 esv268601 10 124953823 124954036 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513033 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv512188 10 125040800 125043235 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624754 S 1 0 1 "" 1 esv23886 10 125041807 125043105 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19334 S 451 0 5 "" NA11995,NA12749,NA18907,NA19114,NA19129 esv1197844 10 125042379 125042954 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105520 S 2 0 1 "" HuRef dgv323e1 10 125047207 125259149 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6405,essv7108,essv23082,essv16646,essv6317,essv3282 M 271 0 0 "" NA12812,NA18537,NA18572,NA18609,NA18972,NA19142 nsv8732 10 125161337 125164758 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17591 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 esv34164 10 125164361 125268796 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv527432 10 125182315 125184274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703871 S 2026 0 1 "" nsv8733 10 125182454 125184627 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21882 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv8734 10 125208363 125211360 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22287 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 nsv517588 10 125209811 125215503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666201,nssv652448,nssv662185 M 2026 0 3 "" esv27336 10 125212037 125212867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21205 S 451 0 1 "" NA07045 nsv509371 10 125220151 125284043 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623790 S 4 1 0 "" NA18994 esv2492141 10 125321834 125322640 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349327 S 1 1 0 "" NA18507 nsv832011 10 125340004 125509787 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448781,nssv1448780 M 95 1 1 CPXM2,GPR26 nsv24499 10 125368941 125369004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43077 M 24 "" esv29800 10 125389962 125390466 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18314 S 451 0 1 "" NA11894 nsv896065 10 125411426 125422909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511439 S 6533 0 1 GPR26 SP55021 nsv467469 10 125418054 125437695 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542757 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR26 HGDP00787 esv991778 10 125432619 125432679 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579930 S 3 0 1 GPR26 HuRef esv1711299 10 125432620 125432620 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092497 S 2 1 0 GPR26 HuRef esv1548382 10 125432620 125432681 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968844 S 2 0 1 GPR26 HuRef nsv527554 10 125436928 125437695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704015 S 2026 0 1 GPR26 nsv25320 10 125494500 125495163 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43898 M 24 CPXM2 esv2220029 10 125521507 125521944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695879 S 1 0 1 CPXM2 NA18507 nsv820023 10 125573789 125575973 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419397 S 2 0 1 CPXM2 AK1 esv27822 10 125630484 125631074 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17140 S 451 0 1 CPXM2 NA19240 nsv25271 10 125654367 125654367 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43849 M 24 "" nsv524333 10 125740515 125758210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700240 S 2026 0 1 CHST15 esv33043 10 125794410 125794698 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94303 S 51 0 1 CHST15 22394 esv4874 10 125917585 125917832 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27315 S 1 0 1 Single Asian sample YH "" YH nsv832012 10 125979292 126140227 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448783,nssv1448782 M 95 1 1 NKX1-2,OAT nsv896066 10 126027211 126075105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546749 S 6533 0 1 "" MS17208 nsv519247 10 126037238 126039416 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696739 S 2026 1 0 "" esv1192020 10 126046187 126046187 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879218 S 2 1 0 "" HuRef nsv7588 10 126056245 126075084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv969 S 9 0 1 "" NA19240 esv29473 10 126058881 126064419 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17768 S 451 0 1 "" NA19240 nsv498744 10 126058929 126064482 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586362 S 9 0 1 "" esv2421824 10 126060139 126064222 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152851,essv5069772,essv5072513,essv5009087,essv5118107,essv5106366,essv5040797,essv5010811,essv5110981,essv5126895,essv5096425,essv5134237,essv5112597,essv5150652,essv5095689,essv5008080,essv5067707 M 1184 0 17 "" NA18484,NA18488,NA18855,NA19122,NA19214,NA19215,NA19239,NA19240,NA19324,NA19385,NA19431,NA20301,NA21314,NA21339,NA21367,NA21423,NA21425 nsv442211 10 126060139 126064222 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv825602 10 126073899 126077221 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423623 S 31 1 0 OAT NA18999 nsv825603 10 126075799 126076657 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421970,nssv1441321,nssv1432276 M 31 3 0 OAT AK20,NA18969,NA18997 nsv513020 10 126149751 126150367 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625679 S 1 1 0 LHPP 1 esv1167776 10 126150094 126150094 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226570 S 2 1 0 LHPP HuRef esv1467242 10 126150219 126150219 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658177 S 2 1 0 LHPP HuRef nsv516914 10 126161602 126163546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654943,nssv673647 M 2026 0 2 LHPP nsv896067 10 126165029 126268448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573860 S 6533 0 1 LHPP IS33504 nsv526655 10 126176761 126182366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702983 S 2026 0 1 LHPP esv22846 10 126178275 126186520 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11479,esv12096,esv18188 M 451 0 23 LHPP NA07037,NA07045,NA11993,NA12006,NA12239,NA12287,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225 nsv515761 10 126179856 126182366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659955,nssv701110,nssv675921,nssv663511,nssv662524,nssv667741,nssv668803,nssv672912,nssv668577,nssv663297,nssv658927,nssv659701,nssv691840,nssv662921,nssv654308,nssv676313,nssv664703 M 2026 0 17 LHPP nsv818787 10 126179856 126182366 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416776,nssv1416775 M 112 0 2 LHPP NA19159,NA19161 nsv525263 10 126180599 126184117 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701363 S 2026 1 0 LHPP esv1003661 10 126183634 126187912 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563786 S 3 1 0 LHPP HuRef nsv821023 10 126184780 126186520 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420900 S 1 0 1 LHPP NA10851 nsv511460 10 126185135 126185701 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626074 S 1 1 0 LHPP 1 esv1340327 10 126185401 126185788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194624 S 2 0 1 LHPP HuRef esv1576703 10 126185799 126185996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996091 S 2 0 1 LHPP HuRef nsv517982 10 126193803 126225492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695394 S 2026 0 1 LHPP dgv832n71 10 126193803 126238190 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896068,nsv896069 M 6533 0 2 LHPP MS10769,MS18276 nsv896070 10 126193803 126255581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543582 S 6533 0 1 LHPP MS16153 dgv833n71 10 126193803 126321545 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896071,nsv896072 M 6533 0 2 FAM53B,LHPP MS10311,MS17208 nsv521161 10 126197196 126414813 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683269,nssv695395,nssv701557,nssv705244,nssv685657,nssv705602 M 2026 1 5 FAM53B,LHPP nsv467470 10 126207553 126223073 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542758 S 1557 0 1 LHPP NINDS_174 dgv834n71 10 126225667 126255581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896074,nsv896073 M 6533 0 2 LHPP MS11726,MS13095 nsv832013 10 126236132 126455020 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448785,nssv1448786,nssv1448788,nssv1448787 M 95 0 4 FAM53B,LHPP,METTL10 nsv467471 10 126253483 126288175 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542759 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LHPP HGDP01100 dgv835n71 10 126270583 126313269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896075,nsv896076 M 6533 0 2 FAM53B,LHPP MS10769,MS16153 nsv7589 10 126277134 126312137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv970 S 9 1 0 FAM53B,LHPP NA19240 nsv467473 10 126284349 126300032 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542761 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM53B,LHPP HGDP00546 nsv896077 10 126288175 126398136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537115 S 6533 0 1 FAM53B,LHPP MS13095 esv29125 10 126288882 126289642 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14882 S 451 0 1 LHPP NA18502 esv1604965 10 126288986 126289406 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007849 S 2 0 1 LHPP HuRef esv5813 10 126289258 126289367 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28254 S 1 0 1 LHPP SJK esv1191959 10 126289520 126289520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908666 S 2 1 0 LHPP HuRef esv1016617 10 126289559 126289559 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995759 S 2 1 0 LHPP HuRef nsv470973 10 126336593 126414813 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545005,nssv545004 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM53B HGDP00298,HGDP00550 nsv832014 10 126352795 126540806 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448789 S 95 0 1 FAM175B,FAM53B,METTL10 esv1000820 10 126407939 126417425 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564798 S 3 0 1 FAM53B HuRef nsv825604 10 126408276 126468911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439098 S 31 1 0 FAM53B,METTL10 NA18973 nsv7591 10 126518901 126553738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3905 S 9 1 0 "" NA12878 nsv523643 10 126565200 126577634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699444 S 2026 0 1 "" nsv517756 10 126571974 126580761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688808,nssv671074,nssv689195,nssv666961,nssv653130,nssv681014,nssv655999,nssv684179,nssv677603,nssv681948,nssv687123 M 2026 0 11 "" nsv825605 10 126614572 126615029 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421971 S 31 0 1 "" NA18997 nsv896078 10 126667987 126685259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597309,nssv1538655 M 6533 0 2 CTBP2 IS40799,MS13770 nsv518907 10 126671678 126681170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696365 S 2026 0 1 CTBP2 nsv896079 10 126671678 126697871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543584 S 6533 0 1 CTBP2 MS16153 dgv836n71 10 126671678 126710278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896081,nsv896080,nsv896082 M 6533 0 3 CTBP2 IS33684,MS10311,MS18276 esv2773 10 126672453 126676601 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25214 S 1 0 1 Single Asian sample YH CTBP2 YH dgv51n21 10 126674124 126683470 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523644,nsv516502 M 2026 0 3 CTBP2 nsv520770 10 126685259 126685663 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694400 S 2026 1 0 CTBP2 nsv25051 10 126719185 126727605 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43629 M 24 CTBP2 nsv7592 10 126758494 126782410 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8857 S 9 0 1 CTBP2 NA12156 esv275443 10 126766745 126767513 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585809,essv2585608 M 1250 1 1 CTBP2 esv998825 10 126770077 126771031 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582779 S 3 0 1 CTBP2 HuRef nsv7593 10 126772983 126804244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6424 S 9 1 0 CTBP2 NA12156 esv4147 10 126789570 126830157 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26588 S 1 0 1 Single Asian sample YH CTBP2 YH nsv825606 10 126814904 126864893 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439099 S 31 1 0 CTBP2 NA18973 nsv825607 10 126827234 126847860 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426906 S 31 1 0 CTBP2 AK6 esv2406095 10 126906292 126906621 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751886 S 1 0 1 "" NA18507 nsv7594 10 126911748 126940688 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10784 S 9 1 0 "" NA18956 nsv7595 10 126915503 126942475 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8858 S 9 0 1 "" NA12156 nsv832016 10 126970048 127150224 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448790 S 95 1 0 "" nsv517169 10 126993292 126994600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662675,nssv672102,nssv654822,nssv653916,nssv654249 M 2026 0 5 "" nsv522877 10 127041257 127082411 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698532 S 2026 1 0 "" nsv517725 10 127050476 127053491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653015,nssv668042 M 2026 0 2 "" nsv515901 10 127055059 127089397 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680734,nssv665197,nssv706073 M 2026 3 0 "" nsv7596 10 127069240 127114084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8859 S 9 0 1 "" NA12156 esv268806 10 127069358 127069874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518015 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv896083 10 127077255 127102354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502018 S 6533 0 1 "" SP51051 esv2095935 10 127106691 127107097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867956 S 1 0 1 "" NA18507 esv271366 10 127120663 127120983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504420,essv2499461,essv2508396,essv2493377,essv2509378,essv2503958 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11993,NA12044,NA12749,NA12776,NA18953 nsv7597 10 127135896 127160086 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9809 S 9 1 0 "" NA18507 nsv7598 10 127163208 127186616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8860 S 9 1 0 "" NA12156 dgv177n67 10 127180209 127181436 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825608,nsv825613,nsv825610 M 31 0 7 "" AK6,NA18526,NA18542,NA18547,NA18564,NA18570,NA18973 nsv820531 10 127180209 127181436 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420901 S 1 1 0 "" NA10851 dgv178n67 10 127180361 127187239 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825612,nsv825611 M 31 0 2 "" AK16,NA18999 esv7651 10 127180658 127187009 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30092 S 1 0 0 "" SJK nsv513743 10 127180869 127185442 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626995 S 1 1 0 "" 1 nsv512189 10 127181334 127189133 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624756 S 1 0 1 "" 1 esv8322 10 127181501 127187260 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30763 S 1 0 1 "" SJK esv1005773 10 127181647 127187225 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568472 S 3 0 1 "" HuRef nsv513021 10 127187021 127187254 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625680 S 1 1 0 "" 1 nsv832017 10 127278547 127475574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448791 S 95 0 1 C10orf122,C10orf137,FLJ37035,LOC283038,MMP21,UROS esv271010 10 127289028 127289147 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506152,essv2498586,essv2494027,essv2513414,essv2493121,essv2500745,essv2504873,essv2511981,essv2497998 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18858,NA18871,NA18907,NA18951,NA18973,NA19099,NA19238,NA19240 esv272763 10 127289051 127289153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580982,essv2579480 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv837n71 10 127290255 127483404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896086,nsv896084,nsv896085 M 6533 3 0 C10orf122,C10orf137,FLJ37035,LOC283038,MMP21,UROS IS33188,IS33475,IS39564 nsv467476 10 127299815 127404575 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542762 S 1557 0 1 C10orf122,C10orf137,FLJ37035,LOC283038 1780862576_A nsv527887 10 127315443 127375294 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704390 S 2026 1 0 C10orf122,LOC283038 nsv7599 10 127347624 127380445 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8861 S 9 0 1 C10orf122,LOC283038 NA12156 nsv428241 10 127443890 127606660 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451980 S 62 0 1 BCCIP,DHX32,FANK1,MIR4484,MMP21,UROS HGDP00449 dgv324e1 10 127443890 127776692 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15061,essv16241 M 271 0 0 ADAM12,BCCIP,DHX32,FANK1,MIR4484,MMP21,UROS NA19129,NA19161 esv33326 10 127482393 127483878 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100891,essv97226 M 51 2 0 UROS 21656,22075 nsv8736 10 127501348 127504337 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21493 S 31 0 1 Samples from several populations that are part of the HapMap project. BCCIP,UROS NA18504 esv259478 10 127503224 127503843 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394189,essv2393794,essv2394057 M 6 0 0 Samples from several populations that are part of the HapMap project. BCCIP NA12878,NA12892,NA19239 esv259818 10 127503233 127503852 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400236,essv2396094,essv2398777,essv2394783,essv2398602,essv2399045,essv2396723,essv2400294,essv2400878,essv2396043,essv2396218,essv2400571,essv2397573,essv2399354,essv2398657,essv2396263,essv2400732,essv2398255,essv2399716,essv2397333,essv2396899,essv2395233,essv2397688,essv2397847,essv2396577,essv2399224,essv2396481,essv2396159,essv2395704,essv2396071,essv2400711,essv2394923,essv2400964,essv2400367,essv2396319,essv2399884,essv2398535,essv2397422,essv2395043,essv2397184,essv2400599,essv2396892,essv2395548,essv2395730,essv2399918,essv2399486,essv2394609,essv2397914,essv2394883,essv2396182,essv2397525,essv2398183,essv2400806,essv2400982,essv2394810,essv2397068 M 144 0 0 Samples from several populations that are part of the HapMap project. BCCIP NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11881,NA11993,NA12003,NA12006,NA12043,NA12044,NA12287,NA12489,NA12716,NA12717,NA12763,NA12828,NA12878,NA12892,NA18499,NA18502,NA18505,NA18507,NA18508,NA18517,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18555,NA18558,NA18561,NA18562,NA18566,NA18571,NA18572,NA18576,NA18579,NA18593,NA18853,NA18856,NA18858,NA18870,NA18907,NA18942,NA18944,NA18947,NA18949,NA18952,NA19099,NA19114,NA19239 esv4748 10 127503397 127503677 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27189 S 1 1 0 Single Asian sample YH BCCIP YH nsv8737 10 127511833 127515524 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21912 S 31 0 1 Samples from several populations that are part of the HapMap project. BCCIP,DHX32 NA18502 nsv8738 10 127561783 127607466 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21942,nssv20347,nssv22613,nssv19266,nssv17885,nssv19310,nssv19675 M 31 0 7 Samples from several populations that are part of the HapMap project. FANK1 NA10847,NA10863,NA11830,NA18502,NA18853,NA18972,NA18980 esv2620406 10 127563287 127565287 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263493 S 1 1 0 "" NA18507 dgv179n67 10 127563359 127607451 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825614,nsv825615 M 31 0 2 FANK1 NA18570,NA18592 nsv820776 10 127563359 127607451 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420903 S 1 1 0 FANK1 NA10851 esv2623784 10 127565287 127585477 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186682 S 1 1 0 FANK1 NA18507 esv22980 10 127567319 127581224 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19260 S 451 1 0 FANK1 NA19108 esv2579697 10 127568725 127570177 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298766 S 1 0 1 "" NA18507 esv8034 10 127583142 127583766 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30475 S 1 0 0 FANK1 SJK esv6291 10 127584491 127598270 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28732 S 1 0 0 FANK1 SJK esv2485694 10 127585477 127606422 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190247 S 1 1 0 FANK1 NA18507 esv33389 10 127603552 127607467 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98635 S 51 1 0 FANK1 22085 nsv527133 10 127623699 127646057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703520 S 2026 0 1 FANK1 esv25941 10 127657805 127658590 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16655 S 451 7 0 FANK1 NA11995,NA18502,NA18511,NA18909,NA19129,NA19190,NA19257 esv2493187 10 127734816 127736554 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302083 S 1 0 1 ADAM12 NA18507 nsv512190 10 127734953 127736086 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624757 S 1 0 1 ADAM12 1 esv2286058 10 127734989 127736173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515638 S 1 0 1 ADAM12 NA18507 esv3244 10 127735124 127736174 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25685 S 1 0 1 Single Asian sample YH ADAM12 YH esv1001364 10 127735175 127735974 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580560 S 3 0 1 ADAM12 HuRef esv7617 10 127735182 127735991 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30058 S 1 0 1 ADAM12 SJK esv1413579 10 127735185 127735985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639323 S 2 0 1 ADAM12 HuRef nsv516813 10 127746270 127746447 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673388,nssv682692,nssv654686,nssv703479,nssv654748,nssv671112,nssv683818,nssv657800 M 2026 7 1 ADAM12 nsv896087 10 127746447 127824556 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535018 S 6533 1 0 ADAM12 MS11934 nsv8739 10 127762583 127766531 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19340 S 31 1 0 Samples from several populations that are part of the HapMap project. ADAM12 NA18853 esv1412557 10 127836909 127836909 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056205 S 2 1 0 ADAM12 HuRef nsv896088 10 127841520 127945783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535019 S 6533 1 0 ADAM12 MS11934 nsv896089 10 127864730 127917273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541793 S 6533 0 1 ADAM12 MS15491 esv2396699 10 127879165 127879607 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791302 S 1 0 1 ADAM12 NA18507 esv275509 10 127879698 127890290 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585211 S 1250 0 1 ADAM12 nsv7600 10 127912549 127945711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5325 S 9 1 0 ADAM12 NA19129 esv2557304 10 127929870 127930485 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243093 S 1 1 0 ADAM12 NA18507 nsv524124 10 127933028 127934583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700002 S 2026 0 1 ADAM12 nsv896090 10 127938228 127948519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516308 S 6533 0 1 ADAM12 SP56789 nsv467477 10 127941199 127953084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542763 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAM12 HGDP00748 nsv512191 10 128096217 128097487 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624758 S 1 0 1 "" 1 esv2233565 10 128096286 128096981 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873511 S 1 0 1 "" NA18507 esv4261 10 128096390 128096895 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26702 S 1 0 1 Single Asian sample YH "" YH esv1010578 10 128096466 128096779 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583826 S 3 0 1 "" HuRef esv9250 10 128096475 128096782 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31691 S 1 0 1 "" SJK esv1692652 10 128096475 128096789 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339115 S 2 0 1 "" HuRef nsv525054 10 128134068 128134876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701102 S 2026 0 1 C10orf90 nsv7602 10 128140522 128185309 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8862 S 9 0 1 C10orf90 NA12156 nsv521809 10 128150265 128204553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694579 S 2026 0 1 C10orf90 nsv819868 10 128216217 128218373 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419396 S 2 1 0 "" AK1 nsv513022 10 128242611 128243209 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625681 S 1 1 0 "" 1 esv28780 10 128264924 128265740 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13605 S 451 0 1 "" NA12239 nsv7603 10 128306000 128308799 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10786 S 9 1 0 "" NA18956 nsv7604 10 128338419 128371868 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5326 S 9 1 0 "" NA19129 esv1927729 10 128341202 128341561 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4642439 S 1 0 1 "" NA18507 esv989667 10 128341272 128341348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568639 S 3 0 1 "" HuRef nsv24682 10 128341431 128341507 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43260 M 24 "" esv1490326 10 128351385 128351385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178848 S 2 1 0 "" HuRef nsv467478 10 128377139 128559535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542764 S 1557 0 1 "" 1780862224_A nsv832018 10 128406041 128594436 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448792 S 95 1 0 DOCK1 nsv515706 10 128516013 128603832 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675205,nssv658963,nssv684791,nssv664497 M 2026 2 2 DOCK1 esv24580 10 128545557 128546632 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17515 S 451 0 1 "" NA19129 esv26167 10 128555082 128555617 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16781 S 451 1 0 "" NA11995 esv2549971 10 128570435 128570975 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271919 S 1 1 0 "" NA18507 nsv513023 10 128570518 128570751 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625682 S 1 1 0 "" 1 nsv436118 10 128577403 128582702 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466622 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv29106 10 128578908 128582230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15353 S 451 0 4 "" NA18505,NA18508,NA18523,NA19129 esv5112 10 128595264 128595748 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27553 S 1 0 1 Single Asian sample YH DOCK1 YH esv2392532 10 128595277 128595826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662038 S 1 0 1 DOCK1 NA18507 nsv896091 10 128597777 128752669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580356 S 6533 1 0 DOCK1 IS35279 nsv896092 10 128603832 128710968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552134 S 6533 0 1 DOCK1 MS19226 nsv7605 10 128656441 128681141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9810 S 9 1 0 DOCK1 NA18507 nsv896093 10 128753877 128851878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568546 S 6533 0 1 DOCK1,FAM196A IS31302 essv14789 10 128798515 129129012 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DOCK1,FAM196A NA19159 nsv896094 10 128821198 129046977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580357 S 6533 1 0 DOCK1,FAM196A IS35279 nsv511443 10 128876844 128879151 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626056 S 1 1 0 DOCK1,FAM196A 1 esv24572 10 128878591 128879224 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11538 S 451 2 0 DOCK1,FAM196A NA12044,NA19114 nsv821275 10 128878591 128879224 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420904 S 1 0 1 DOCK1,FAM196A NA10851 essv13354 10 128881619 129008874 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DOCK1,FAM196A NA19159 nsv8740 10 128936901 128939192 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17915 S 31 1 0 Samples from several populations that are part of the HapMap project. DOCK1 NA10847 esv2652779 10 128951363 128952282 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205522 S 1 1 0 DOCK1 NA18507 nsv832019 10 128955814 129077639 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448793 S 95 0 1 DOCK1 nsv519173 10 128992767 129022492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696656 S 2026 0 1 DOCK1 esv2282957 10 129010371 129010863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954204 S 1 0 1 DOCK1 NA18507 esv27067 10 129035683 129036859 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15025 S 451 3 2 DOCK1 NA07037,NA07045,NA11995,NA18909,NA19147 nsv8741 10 129048372 129051997 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19370,nssv22317,nssv18542 M 31 0 3 Samples from several populations that are part of the HapMap project. DOCK1 NA07029,NA18853,NA19132 esv2497278 10 129050706 129051821 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287503 S 1 1 0 DOCK1 NA18507 esv1034103 10 129051109 129051109 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047902 S 2 1 0 DOCK1 HuRef esv28929 10 129073907 129074382 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12909 S 451 0 1 DOCK1 NA11995 esv271151 10 129080264 129080590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546284,essv2523008,essv2543804,essv2556697,essv2568389,essv2532007,essv2577418,essv2570594,essv2548183,essv2576657,essv2550359,essv2535120,essv2552084,essv2564490,essv2578001,essv2559563,essv2565439,essv2530878,essv2561748,essv2557226,essv2552645,essv2537066,essv2561587,essv2544564,essv2542800,essv2540477,essv2564979,essv2561076,essv2560090,essv2532857,essv2567687,essv2541691,essv2535511,essv2572605,essv2558970,essv2556292,essv2528093,essv2573025,essv2567078,essv2566405,essv2530104,essv2543247,essv2571955,essv2529769,essv2538596,essv2526470,essv2530382,essv2572719,essv2548889,essv2554383,essv2547801 M 157 51 0 Samples from several populations that are part of the HapMap project. DOCK1 NA07037,NA07346,NA07347,NA11881,NA11931,NA11992,NA11994,NA11995,NA12006,NA12043,NA12044,NA12045,NA12154,NA12234,NA12249,NA12489,NA12751,NA12761,NA12776,NA12812,NA12873,NA12874,NA18501,NA18502,NA18517,NA18523,NA18526,NA18550,NA18552,NA18558,NA18562,NA18570,NA18576,NA18577,NA18592,NA18608,NA18609,NA18638,NA18871,NA18907,NA18942,NA18947,NA18948,NA18949,NA18965,NA18973,NA19093,NA19108,NA19114,NA19141,NA19143 nsv25417 10 129080297 129080297 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43995 M 24 DOCK1 nsv526580 10 129083380 129087374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702898 S 2026 0 1 DOCK1 esv21647 10 129085211 129085931 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12331 S 451 2 0 DOCK1 NA12004,NA12287 nsv7606 10 129187343 129207616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv971 S 9 1 0 "" NA19240 nsv524369 10 129194065 129199240 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700281 S 2026 1 0 "" nsv7607 10 129217079 129262188 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8863 S 9 0 1 NPS NA12156 esv273388 10 129263498 129263705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580854,essv2579581 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271623 10 129263553 129263819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525885,essv2522870,essv2570982,essv2568115,essv2577227,essv2548476,essv2554193,essv2552032,essv2578648,essv2536821,essv2544839,essv2523632,essv2553094,essv2538424,essv2519565,essv2566107,essv2541820,essv2535856,essv2572480,essv2566908,essv2542015,essv2551153,essv2562338,essv2578215,essv2566360,essv2527442,essv2531314,essv2573385,essv2571967,essv2525622,essv2560645,essv2574731,essv2560367,essv2571194,essv2536109,essv2554488 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA11918,NA11931,NA11993,NA11995,NA12043,NA12045,NA12287,NA12489,NA18510,NA18517,NA18526,NA18537,NA18542,NA18547,NA18566,NA18572,NA18592,NA18608,NA18609,NA18853,NA18856,NA18858,NA18909,NA18940,NA18948,NA18952,NA18961,NA18964,NA18973,NA18980,NA19116,NA19138,NA19190,NA19238 nsv519770 10 129270851 129271086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697040 S 2026 0 1 "" nsv520980 10 129270851 129305426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697720 S 2026 0 1 "" nsv896095 10 129291896 129390908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525741 S 6533 1 0 "" SP56788 nsv467480 10 129369269 129376223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542765 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01345 esv24992 10 129378602 129443446 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19154,esv13375 M 451 8 0 FOXI2 NA11894,NA11995,NA12239,NA12878,NA18505,NA18858,NA19108,NA19190 esv1461688 10 129392909 129392909 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136360 S 2 1 0 "" HuRef esv1201534 10 129392921 129392921 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614576 S 2 1 0 "" HuRef nsv24537 10 129392922 129392922 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43115 M 24 "" nsv513024 10 129402492 129402905 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625683 S 1 1 0 "" 1 esv2494814 10 129402582 129402875 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200985 S 1 1 0 "" NA18507 esv2646335 10 129454667 129456297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164708 S 1 0 1 "" NA18507 esv2242855 10 129455108 129455792 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886430 S 1 0 1 "" NA18507 esv3524 10 129455253 129455669 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25965 S 1 0 1 Single Asian sample YH "" YH esv8669 10 129455266 129455625 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31110 S 1 0 1 "" SJK esv998251 10 129455295 129455600 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574018 S 3 0 1 "" HuRef esv1067048 10 129455303 129455609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341316 S 2 0 1 "" HuRef nsv7608 10 129474188 129509631 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3906 S 9 1 0 "" NA12878 nsv509372 10 129475986 129515210 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619804 S 4 1 0 "" NA10860 nsv896096 10 129480510 129531492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571709 S 6533 1 0 "" IS32787 esv2586005 10 129484982 129485770 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297488 S 1 1 0 "" NA18507 nsv832020 10 129504637 129697948 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448794 S 95 1 0 CLRN3,PTPRE nsv520506 10 129511102 129513841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688696,nssv671905 M 2026 0 2 "" nsv518989 10 129522131 129533577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694295 S 2026 0 1 "" nsv520219 10 129523698 129531492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697289 S 2026 0 1 "" nsv520082 10 129531492 129533577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683939,nssv660552,nssv673775 M 2026 0 3 "" nsv896097 10 129554788 129580064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578043 S 6533 1 0 CLRN3 IS34645 esv26786 10 129720192 129721273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15110 S 451 0 1 PTPRE NA11995 esv34105 10 129760283 130251971 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MKI67,PTPRE nsv819343 10 129772240 129773472 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419208 S 2 1 0 PTPRE AK1 esv23475 10 129772277 129773080 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17299 S 451 1 0 PTPRE NA11894 nsv467481 10 129780159 129796354 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542766 S 1557 0 1 MKI67 NINDS_54 dgv52n21 10 129780159 129797479 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523184,nsv516114 M 2026 0 5 MKI67 nsv523484 10 129791383 129794907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699250 S 2026 0 1 MKI67 esv1446685 10 129817592 129817646 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969650 S 2 0 1 "" HuRef esv1205967 10 129825568 129825880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091361 S 2 0 1 "" HuRef nsv518611 10 129949266 129954573 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696057 S 2026 0 1 "" esv274273 10 129965104 129965450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581005,essv2579442 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv7609 10 129994327 130018298 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8864 S 9 1 0 "" NA12156 nsv519973 10 130027095 130041400 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697157 S 2026 1 0 "" esv2393328 10 130052103 130052526 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666831 S 1 0 1 "" NA18507 esv2075494 10 130070849 130071439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937404 S 1 0 1 "" NA18507 esv7062 10 130071006 130071238 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29503 S 1 0 1 "" SJK nsv509373 10 130072125 130166292 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621119,nssv619807,nssv618083,nssv623793 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv7610 10 130139654 130167581 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3907,nssv972,nssv11245,nssv1914,nssv6425,nssv5327 M 9 6 0 "" NA12156,NA12878,NA15510,NA18555,NA19129,NA19240 nsv896098 10 130141513 130179509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530693,nssv1546751 M 6533 0 2 "" MS10311,MS17208 esv1007371 10 130149273 130152050 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565470 S 3 1 0 "" HuRef nsv58 10 130150405 130155431 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv58 S 1 1 0 "" NA15510 esv994241 10 130152200 130153924 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564551 S 3 1 0 "" HuRef esv1695015 10 130152726 130152726 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078436 S 2 1 0 "" HuRef nsv896099 10 130155288 130179509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549800 S 6533 0 1 "" MS18276 nsv513299 10 130270687 130271995 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625684 S 1 1 0 "" 1 esv1138930 10 130271741 130271741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997034 S 2 1 0 "" HuRef nsv528097 10 130316967 130322790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704637 S 2026 0 1 "" nsv832021 10 130325185 130493639 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448796 S 95 1 0 "" nsv7611 10 130374570 130419230 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8865 S 9 0 1 "" NA12156 nsv896100 10 130400255 130425063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501296 S 6533 0 1 "" SP50900 esv272898 10 130464936 130465065 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580637 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv518512 10 130513996 130514828 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695952 S 2026 0 1 "" esv270547 10 130515016 130521086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497279,essv2497148,essv2512643,essv2508415,essv2511064,essv2495164,essv2500799 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18552,NA18577,NA18582,NA18944,NA18964,NA18973 esv270325 10 130535774 130535881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504071,essv2507173,essv2506522,essv2497090,essv2499803 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18870,NA19108,NA19190,NA19225 nsv519955 10 130574703 130576928 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687283,nssv690148,nssv659627,nssv661059,nssv685284 M 2026 0 5 "" esv2473112 10 130575033 130575985 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343017 S 1 1 0 "" NA18507 esv1110389 10 130575492 130575492 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277800 S 2 1 0 "" HuRef nsv7613 10 130581147 130626008 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8866 S 9 0 1 "" NA12156 nsv825616 10 130643348 130643965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432277 S 31 0 1 "" AK20 nsv7614 10 130656615 130701443 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5328 S 9 0 1 "" NA19129 esv2170313 10 130664662 130665114 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514652 S 1 0 1 "" NA18507 nsv832022 10 130670488 130827873 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448797 S 95 0 1 "" nsv509374 10 130672590 130770008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623797 S 4 1 0 "" NA18994 esv24942 10 130726742 130727274 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14892 S 451 0 2 "" NA11995,NA12004 dgv180n67 10 130726785 130727320 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825618,nsv825617 M 31 0 5 "" NA18537,NA18552,NA18564,NA18947,NA18949 esv994208 10 130726861 130727263 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568973 S 3 0 1 "" HuRef esv1100243 10 130726861 130727264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764498 S 2 0 1 "" HuRef nsv24167 10 130726862 130727264 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42745 M 24 "" nsv517657 10 130727042 130727480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652703,nssv668627,nssv674268,nssv655896,nssv662241 M 2026 0 5 "" esv999768 10 130742603 130744223 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586469 S 3 1 0 "" HuRef esv271273 10 130778799 130779142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512601,essv2510614,essv2494200,essv2502977,essv2496338,essv2506110,essv2505234,essv2505727,essv2509517,essv2497703,essv2502190 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18502,NA18507,NA18510,NA18523,NA18853,NA18861,NA19129,NA19147,NA19257 nsv825619 10 130907311 130911135 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425993 S 31 0 1 "" AK4 nsv7615 10 130923355 130955545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3908 S 9 1 0 "" NA12878 dgv53n21 10 130997931 131098734 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525888,nsv525577 M 2026 2 0 "" nsv7616 10 131021665 131066996 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8867 S 9 0 1 "" NA12156 nsv25092 10 131102929 131102929 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43670 M 24 "" esv269107 10 131134452 131134766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516395 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv7617 10 131192476 131226033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5329 S 9 1 0 MGMT NA19129 esv21706 10 131193664 131198459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14004 S 451 0 1 MGMT NA18907 nsv513300 10 131206699 131206815 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625685 S 1 1 0 MGMT 1 nsv24217 10 131307023 131307023 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42795 M 24 MGMT esv33589 10 131319598 131320601 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97248 S 51 0 1 MGMT 22075 nsv516662 10 131361712 131364237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669992,nssv690506 M 2026 0 2 MGMT nsv896101 10 131375335 131491144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546752 S 6533 0 1 MGMT MS17208 nsv896102 10 131388381 131433396 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530694 S 6533 0 1 MGMT MS10311 esv26422 10 131452768 131466377 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12012 S 451 1 0 MGMT NA12239 esv5232 10 131484957 131485590 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27673 S 1 0 1 Single Asian sample YH "" YH esv6561 10 131485167 131485468 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29002 S 1 0 1 "" SJK nsv832023 10 131500713 131698871 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448802,nssv1448804,nssv1448820,nssv1448805,nssv1448803,nssv1448809,nssv1448816,nssv1448808,nssv1448807,nssv1448812,nssv1448810,nssv1448798,nssv1448813,nssv1448819,nssv1448818,nssv1448811,nssv1448801,nssv1448815,nssv1448814,nssv1448799,nssv1448800 M 95 8 13 EBF3,MIR4297 nsv896103 10 131548520 131634121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543585 S 6533 0 1 EBF3 MS16153 nsv896104 10 131577998 131631594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585920 S 6533 0 1 EBF3 IS37646 esv1978602 10 131608128 131608716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538113 S 1 0 1 EBF3 NA18507 nsv825621 10 131616504 131701206 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436879 S 31 1 0 EBF3 NA18542 nsv7618 10 131618031 131650135 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6426 S 9 1 0 EBF3 NA12156 dgv181n67 10 131626129 131667076 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825625,nsv825622,nsv825628,nsv825623,nsv825624,nsv825627,nsv825629 M 31 7 0 EBF3 AK12,AK18,AK6,NA18949,NA18968,NA18969,NA18973 nsv825626 10 131630339 131666745 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435293 S 31 0 1 EBF3 NA18942 nsv896105 10 131634121 131739699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546753 S 6533 0 1 EBF3 MS17208 nsv832024 10 131635728 131836090 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448821 S 95 0 1 CTAGE7P,EBF3,GLRX3,LOC387723 esv1434346 10 131702228 131702228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143558 S 2 1 0 "" HuRef esv2448979 10 131739396 131740928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176649 S 1 0 1 "" NA18507 esv1309833 10 131739781 131739925 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713591 S 2 0 1 "" HuRef esv1568777 10 131740105 131740177 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261024 S 2 0 1 "" HuRef esv1284081 10 131770065 131770065 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786021 S 2 1 0 LOC387723 HuRef esv1382398 10 131784824 131784824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983147 S 2 1 0 LOC387723 HuRef esv21600 10 131823559 131824194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21355 S 451 0 1 "" NA18858 nsv825630 10 131838324 131871365 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439102 S 31 1 0 GLRX3 NA18973 nsv896106 10 131874950 131907431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546754 S 6533 0 1 "" MS17208 nsv516699 10 131874950 132535023 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700904,nssv691362,nssv686990,nssv696781,nssv700905,nssv696367,nssv670221,nssv704291,nssv670527,nssv673466,nssv703515,nssv692771,nssv696366 M 2026 9 4 "" nsv896107 10 131922444 132227992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586466 S 6533 0 1 "" IS37820 esv270484 10 131942987 131943254 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540690,essv2546223,essv2531915,essv2577333,essv2525407,essv2564698,essv2577711,essv2556821,essv2521895,essv2568965,essv2568663,essv2532978,essv2547699,essv2524877 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA07357,NA11831,NA11881,NA12006,NA12043,NA12156,NA12751,NA12761,NA18501,NA18571,NA18861,NA19147 nsv24889 10 131959147 131959202 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43467 M 24 "" esv3106 10 131977239 131977790 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25547 S 1 0 1 Single Asian sample YH "" YH nsv825632 10 131985846 131999211 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428506 S 31 1 0 "" AK10 nsv896108 10 132025503 132039565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565257 S 6533 0 1 "" IS30372 esv268507 10 132035544 132035881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541020,essv2546605,essv2526248,essv2523254,essv2531881,essv2577345,essv2525449,essv2553957,essv2564385,essv2576399,essv2557324,essv2537165,essv2541206,essv2542907,essv2540402,essv2549580,essv2519772,essv2522263,essv2566033,essv2572463,essv2550974,essv2556199,essv2527950,essv2566410,essv2529869,essv2531313,essv2573688,essv2575618,essv2524266,essv2571153,essv2574350,essv2548941,essv2533213,essv2557886 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA10851,NA11831,NA11881,NA11918,NA12004,NA12006,NA12043,NA12156,NA12287,NA12751,NA12814,NA18499,NA18517,NA18545,NA18550,NA18552,NA18564,NA18566,NA18571,NA18572,NA18609,NA18858,NA18871,NA18907,NA18948,NA18949,NA18961,NA18964,NA19099,NA19129,NA19238,NA19240 esv273779 10 132035547 132035890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579298 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv1744863 10 132035576 132035576 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615151 S 2 1 0 "" HuRef nsv467485 10 132039565 132092044 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542768 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00976 esv994009 10 132048184 132048985 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565155 S 3 0 1 "" HuRef esv5006 10 132048404 132049036 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27447 S 1 0 1 Single Asian sample YH "" YH dgv17n6 10 132048416 132048801 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv24616,nsv24145 M 24 "" esv7097 10 132048426 132048952 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29538 S 1 0 1 "" SJK esv25833 10 132067226 132068682 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21417 S 451 2 0 "" NA18907,NA19240 esv2462653 10 132071563 132073136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324216 S 1 0 1 "" NA18507 esv2419666 10 132071979 132072489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748970 S 1 0 1 "" NA18507 esv4456 10 132072175 132072412 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26897 S 1 0 1 Single Asian sample YH "" YH esv1555543 10 132072177 132072305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811711 S 2 0 1 "" HuRef esv4998 10 132072579 132072922 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27439 S 1 0 1 Single Asian sample YH "" YH esv3794 10 132104112 132104355 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26235 S 1 0 1 Single Asian sample YH "" YH nsv825633 10 132120186 132149057 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428509 S 31 1 0 "" AK10 nsv832025 10 132121744 132287752 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448822 S 95 1 0 "" esv2522083 10 132146963 132148697 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341664 S 1 0 1 "" NA18507 esv24087 10 132147673 132148490 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17586 S 451 0 1 "" NA19225 esv1003031 10 132147676 132147753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567102 S 3 0 1 "" HuRef nsv514544 10 132153752 132209392 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627104 S 1414 0 0 "" nsv896109 10 132158923 132207218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546755 S 6533 0 1 "" MS17208 esv23062 10 132161731 132162316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14722 S 451 0 1 "" NA18858 esv2457881 10 132184682 132185198 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278847 S 1 1 0 "" NA18507 esv1046810 10 132184712 132184712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635032 S 2 1 0 "" HuRef esv988102 10 132197218 132197218 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574326 S 3 1 0 "" HuRef esv1768194 10 132197239 132197239 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658576 S 2 1 0 "" HuRef esv25867 10 132207254 132210968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12242 S 451 0 1 "" NA18523 nsv442212 10 132208544 132210099 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv7619 10 132248483 132281257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5330 S 9 1 0 "" NA19129 esv24314 10 132260569 132262320 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12098 S 451 2 0 "" NA19147,NA19225 esv1698335 10 132260644 132260644 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099089 S 2 1 0 "" HuRef esv1282500 10 132261051 132261117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061816 S 2 0 1 "" HuRef esv1751164 10 132261131 132261296 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119121 S 2 0 1 "" HuRef esv4617 10 132262055 132262445 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27058 S 1 0 1 Single Asian sample YH "" YH esv994956 10 132262170 132262314 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573570 S 3 0 1 "" HuRef nsv24438 10 132262172 132262316 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43016 M 24 "" nsv428242 10 132296205 133271394 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451982 S 62 1 0 MIR378C,TCERG1L HGDP00450 dgv18e180 10 132344321 132344458 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1001988,esv996496 M 3 0 1 "" HuRef esv1614921 10 132344405 132344497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325008 S 2 0 1 "" HuRef esv21714 10 132422852 132424956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13869 S 451 0 1 "" NA12239 esv1249321 10 132431406 132431406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591199 S 2 1 0 "" HuRef esv2584962 10 132447015 132449191 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311535 S 1 0 1 "" NA18507 nsv512192 10 132447202 132449096 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624759 S 1 0 1 "" 1 esv2248495 10 132447222 132447554 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645578 S 1 0 1 "" NA18507 esv25468 10 132447306 132449131 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16981 S 451 1 0 "" NA18502 esv1673797 10 132447461 132448515 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071339 S 2 0 1 "" HuRef nsv25288 10 132447578 132447795 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43866 M 24 "" nsv467486 10 132460162 132488265 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542769 S 1557 0 1 "" NINDS_65 esv23587 10 132473689 132474239 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17230 S 451 1 0 "" NA19108 esv8137 10 132475527 132475784 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30578 S 1 0 0 "" SJK esv3604 10 132478393 132478759 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26045 S 1 0 0 Single Asian sample YH "" YH nsv7620 10 132499222 132543974 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8868 S 9 0 1 "" NA12156 nsv825634 10 132525465 132529194 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422804,nssv1421972 M 31 0 2 "" NA18552,NA18997 nsv821412 10 132525527 132528896 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420905 S 1 0 1 "" NA10851 esv8841 10 132525588 132525838 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31282 S 1 0 0 "" SJK nsv819270 10 132525871 132528471 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419453 S 2 1 0 "" AK1 esv24320 10 132526022 132528726 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14142 S 451 37 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv825635 10 132526248 132528234 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441323 S 31 0 1 "" NA18969 nsv896110 10 132572117 132594635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578601 S 6533 0 1 "" IS34811 esv23878 10 132600557 132601182 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13381 S 451 0 1 "" NA11993 esv2422706 10 132614517 132614642 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317502 S 1 0 1 "" NA18507 esv3320 10 132618695 132619222 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25761 S 1 0 1 Single Asian sample YH "" YH nsv25190 10 132657823 132657823 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43768 M 24 "" esv1155163 10 132669349 132669503 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365693 S 2 0 1 "" HuRef esv1026601 10 132670098 132670098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588746 S 2 1 0 "" HuRef esv3347 10 132715950 132716433 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25788 S 1 0 1 Single Asian sample YH "" YH esv2032565 10 132716011 132716396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572137 S 1 0 1 "" NA18507 nsv526964 10 132721809 132725351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703336 S 2026 0 1 "" esv25485 10 132730089 132731305 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10786 S 451 6 2 "" NA07037,NA11894,NA11993,NA12044,NA12878,NA18907,NA19099,NA19108 nsv820601 10 132730089 132731305 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420906 S 1 0 1 "" NA10851 esv1005023 10 132730195 132730993 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586580 S 3 1 0 "" HuRef esv1026009 10 132730285 132730764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722845 S 2 0 1 "" HuRef esv994692 10 132732363 132732435 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578706 S 3 0 1 "" HuRef nsv470974 10 132737780 132814936 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545006,nssv545007 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TCERG1L HGDP00448,HGDP00479 nsv832027 10 132744573 132902305 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448823 S 95 1 0 TCERG1L esv2560278 10 132747771 132749379 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346464 S 1 0 1 "" NA18507 esv2357284 10 132748278 132749020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994841 S 1 0 1 "" NA18507 esv4274 10 132748448 132748990 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26715 S 1 0 1 Single Asian sample YH "" YH esv991944 10 132748462 132748810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575114 S 3 0 1 "" HuRef nsv896111 10 132761453 132888510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530695 S 6533 0 1 TCERG1L MS10311 nsv7621 10 132770124 132805416 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1915 S 9 0 1 TCERG1L NA18555 nsv511463 10 132798458 132804899 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626078 S 1 0 1 TCERG1L 1 esv26490 10 132798715 132803136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17403 S 451 0 9 TCERG1L NA07037,NA11931,NA11993,NA12287,NA12414,NA12878,NA15510,NA18523,NA19108 nsv512193 10 132798981 132802859 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624760 S 1 0 1 TCERG1L 1 dgv182n67 10 132798994 132802764 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825636,nsv825638,nsv825645,nsv825640,nsv825641,nsv825639,nsv825637,nsv825644,nsv825643 M 31 0 17 TCERG1L AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18537,NA18942,NA18947,NA18949,NA18968,NA18972,NA18973,NA18997,NA18999 esv3237 10 132799007 132802936 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25678 S 1 0 1 Single Asian sample YH TCERG1L YH esv6315 10 132799043 132802747 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28756 S 1 0 1 TCERG1L SJK nsv498745 10 132799048 132802774 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586373 S 9 0 1 TCERG1L nsv820144 10 132799078 132802834 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419575 S 2 0 1 TCERG1L AK1 esv32814 10 132799241 132802636 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101111,essv94391,essv93113,essv93094,essv95377,essv98994,essv97096,essv98596,essv92615,essv98098 M 51 7 2 TCERG1L 21618,21808,21863,21872,21938,22075,22085,22233,22259 nsv825646 10 132800221 132800898 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430788 S 31 0 1 TCERG1L AK16 nsv825647 10 132802040 132802621 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421976 S 31 0 1 TCERG1L NA18997 nsv896112 10 132842998 132950140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546756 S 6533 0 1 TCERG1L MS17208 nsv896113 10 132862891 132882533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513262 S 6533 0 1 TCERG1L SP55699 esv2580680 10 132864757 132865546 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316234 S 1 1 0 TCERG1L NA18507 esv1161251 10 132865101 132865101 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653907 S 2 1 0 TCERG1L HuRef esv1596333 10 132865164 132865164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634323 S 2 1 0 TCERG1L HuRef esv1008219 10 132877980 132885578 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563483 S 3 0 1 TCERG1L HuRef esv23166 10 132878406 132881189 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18922 S 451 0 3 TCERG1L NA11995,NA18909,NA19225 nsv832028 10 132891454 133062922 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448824 S 95 0 1 TCERG1L esv27895 10 132916389 132917459 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11929 S 451 1 0 TCERG1L NA12239 esv1452199 10 132916492 132917077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778610 S 2 0 1 TCERG1L HuRef nsv7622 10 132959577 132975170 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv974 S 9 1 0 TCERG1L NA19240 nsv825648 10 132970526 133023825 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439104 S 31 1 0 TCERG1L NA18973 esv28224 10 132977796 132978461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11258 S 451 0 1 TCERG1L NA11995 nsv25335 10 132977961 132978081 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43913 M 24 TCERG1L nsv825649 10 132987502 133003305 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426910 S 31 1 0 TCERG1L AK6 nsv509375 10 132998789 133067309 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621121 S 4 1 0 TCERG1L NA15510 nsv832029 10 133010277 133183637 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448825,nssv1448826 M 95 0 2 "" esv992482 10 133012752 133012883 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573257 S 3 0 1 "" HuRef esv4581 10 133032436 133032914 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27022 S 1 0 1 Single Asian sample YH "" YH esv25943 10 133032508 133033038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15420 S 451 0 8 "" NA11894,NA12006,NA12239,NA12414,NA18523,NA18858,NA18916,NA19225 nsv820777 10 133032508 133033038 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420907 S 1 0 1 "" NA10851 esv1168476 10 133035104 133035104 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072706 S 2 1 0 "" HuRef esv29175 10 133040213 133040792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18517 S 451 0 1 "" NA19114 esv2355635 10 133051864 133052301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851623 S 1 0 1 "" NA18507 esv24938 10 133065540 133084727 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17415,esv17286,esv10877 M 451 6 0 "" NA06985,NA12749,NA12878,NA15510,NA19129,NA19257 nsv521004 10 133077948 133081590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697731 S 2026 0 1 "" esv1996759 10 133082732 133083184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569349 S 1 0 1 "" NA18507 nsv516804 10 133127555 133143108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671041,nssv674521,nssv701274 M 2026 0 3 "" nsv518204 10 133136594 133608348 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695628 S 2026 1 0 FLJ46300,PPP2R2D nsv24728 10 133150695 133150750 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43306 M 24 "" esv1187560 10 133150760 133150816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684001 S 2 0 1 "" HuRef esv2449955 10 133174702 133175509 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185505 S 1 1 0 "" NA18507 esv1513853 10 133175075 133175075 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088318 S 2 1 0 "" HuRef esv2425725 10 133200502 133201116 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329758 S 1 1 0 "" NA18507 esv275477 10 133213085 133217883 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585737,essv2585328 M 1250 1 1 "" nsv520342 10 133218660 133225079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697359 S 2026 0 1 "" nsv896114 10 133247041 133368031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543586 S 6533 0 1 "" MS16153 nsv896115 10 133260047 133329611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585921 S 6533 0 1 "" IS37646 nsv896116 10 133264737 133308712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507757 S 6533 0 1 "" SP54579 nsv511438 10 133303724 133308712 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626050 S 1 1 0 "" 1 esv2625749 10 133305057 133309237 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182751 S 1 0 1 "" NA18507 esv29432 10 133305263 133307270 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17342 S 451 4 0 "" NA06985,NA15510,NA18909,NA19114 esv1354627 10 133308537 133308537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267914 S 2 1 0 "" HuRef esv1006928 10 133314384 133314384 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580542 S 3 1 0 "" HuRef esv1599391 10 133314458 133314458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696575 S 2 1 0 "" HuRef dgv54n21 10 133321642 133323688 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519843,nsv524897 M 2026 0 4 "" nsv896117 10 133323688 133648418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546757 S 6533 0 1 BNIP3,FLJ46300,PPP2R2D MS17208 nsv896118 10 133351525 133440080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563573 S 6533 0 1 "" MS26119 esv28193 10 133376886 133380026 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16271,esv19839,esv13713 M 451 0 12 "" NA12004,NA12156,NA18505,NA18517,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240 nsv821313 10 133378241 133380026 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420908 S 1 0 1 "" NA10851 esv1497864 10 133379680 133379680 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891370 S 2 1 0 "" HuRef nsv7624 10 133384817 133415524 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8869 S 9 1 0 "" NA12156 nsv467488 10 133419438 133479459 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542770 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ46300 HGDP00796 esv2157786 10 133422592 133423034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590398 S 1 0 1 "" NA18507 nsv24635 10 133422785 133422843 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43213 M 24 "" esv25580 10 133457570 133459169 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11080 S 451 1 0 FLJ46300 NA07037 esv1763867 10 133490129 133490129 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181898 S 2 1 0 "" HuRef esv22827 10 133493771 133516741 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14396,esv18124 M 451 0 11 "" NA11894,NA12004,NA12044,NA12239,NA12878,NA18511,NA18523,NA19114,NA19129,NA19147,NA19240 essv13994 10 133497122 133503143 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19098 esv2422043 10 133497122 133514813 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5093872,essv5007640,essv5146588,essv5151463,essv5157652,essv5061109,essv5047071,essv5016273,essv5024135,essv5059663,essv5082138,essv5080449,essv5043279,essv5066888,essv5128805,essv5003661,essv5079870,essv5055675,essv5059898,essv5115119 M 1184 0 20 "" NA18484,NA18485,NA18486,NA18489,NA18515,NA18516,NA19098,NA19102,NA19103,NA19127,NA19129,NA19150,NA19384,NA19430,NA19436,NA19437,NA19901,NA19902,NA21353,NA21650 nsv442213 10 133497123 133508705 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516002 10 133498706 133508337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675789,nssv676042,nssv665659,nssv668043,nssv658244,nssv660299,nssv670222,nssv686544,nssv690473,nssv660766,nssv702964,nssv686940,nssv683609 M 2026 0 13 "" esv2545822 10 133501651 133502353 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228542 S 1 1 0 "" NA18507 esv1481278 10 133502185 133502185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111378 S 2 1 0 "" HuRef nsv25041 10 133505524 133505782 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43619 M 24 "" esv1015042 10 133524561 133524561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767571 S 2 1 0 "" HuRef nsv825650 10 133577558 133720209 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439105 S 31 1 0 BNIP3,PPP2R2D NA18973 nsv8742 10 133578545 133584560 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19306,nssv19256,nssv17899,nssv20057 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18572,NA19007 esv23461 10 133580013 133584032 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17496 S 451 1 2 "" NA15510,NA18909,NA19225 nsv8743 10 133602112 133603333 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19698,nssv20117,nssv23105,nssv19594,nssv17621 M 31 0 5 Samples from several populations that are part of the HapMap project. PPP2R2D NA10839,NA12872,NA18563,NA18564,NA18860 esv1295798 10 133602601 133602601 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620202 S 2 1 0 PPP2R2D HuRef esv5340 10 133603172 133603406 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27781 S 1 0 1 Single Asian sample YH PPP2R2D YH esv22692 10 133615477 133617401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12773 S 451 0 2 PPP2R2D NA18858,NA18907 esv1363864 10 133615591 133615710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739487 S 2 0 1 PPP2R2D HuRef esv1109336 10 133615728 133615792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605993 S 2 0 1 PPP2R2D HuRef nsv8744 10 133620379 133623348 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19605 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv825651 10 133639414 133649565 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426911 S 31 1 0 BNIP3 AK6 esv2230640 10 133649700 133650081 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819134 S 1 0 1 "" NA18507 nsv896119 10 133667732 133708144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530696 S 6533 0 1 "" MS10311 nsv896120 10 133667732 133881866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543587 S 6533 0 1 DPYSL4,JAKMIP3,STK32C MS16153 nsv7625 10 133670789 133704659 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8870 S 9 1 0 "" NA12156 esv6272 10 133681139 133681193 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28713 S 1 1 0 "" SJK nsv896121 10 133693052 133783495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571899 S 6533 0 1 JAKMIP3 IS32841 nsv437131 10 133701898 133712933 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467012 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10855 nsv896122 10 133709527 134215871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549801 S 6533 0 1 C10orf91,DPYSL4,INPP5A,JAKMIP3,LRRC27,PWWP2B,STK32C MS18276 dgv838n71 10 133721009 133798337 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896123,nsv896124 M 6533 0 2 JAKMIP3 IS41634,MS10311 nsv896125 10 133722744 133820578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588218 S 6533 0 1 JAKMIP3 IS38176 nsv7626 10 133724368 133752336 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3909 S 9 0 1 "" NA12878 nsv24626 10 133724750 133724799 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43204 M 24 "" nsv520651 10 133734344 133736319 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673554,nssv690233,nssv705914 M 2026 2 1 "" nsv832030 10 133756623 133900001 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448830,nssv1448829,nssv1448835,nssv1448843,nssv1448834,nssv1448852,nssv1448831,nssv1448865,nssv1448833,nssv1448832,nssv1448842,nssv1448838,nssv1448836,nssv1448837,nssv1448840,nssv1448841,nssv1448848,nssv1448845,nssv1448844,nssv1448847,nssv1448846,nssv1448849,nssv1448859,nssv1448827,nssv1448855,nssv1448853,nssv1448854,nssv1448864,nssv1448856,nssv1448857,nssv1448858,nssv1448863,nssv1448860,nssv1448861 M 95 0 34 DPYSL4,JAKMIP3,STK32C nsv896126 10 133761922 133870687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546758 S 6533 0 1 DPYSL4,JAKMIP3 MS17208 dgv839n71 10 133766677 133946195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896128,nsv896133,nsv896132,nsv896127 M 6533 0 5 DPYSL4,JAKMIP3,STK32C IS33504,IS33684,IS37646,MS11237,MS13770 dgv840n71 10 133773338 133837428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896130,nsv896129 M 6533 0 2 JAKMIP3 IS40297,IS40396 esv996010 10 133778684 133778753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582734 S 3 0 1 JAKMIP3 HuRef esv1281400 10 133778715 133778785 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103045 S 2 0 1 JAKMIP3 HuRef dgv841n71 10 133788269 133895665 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896136,nsv896135,nsv896138,nsv896131,nsv896139 M 6533 0 5 DPYSL4,JAKMIP3,STK32C IS32841,IS39233,MS10123,MS10698,MS11726 dgv842n71 10 133793941 133852757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896137,nsv896134 M 6533 0 2 DPYSL4,JAKMIP3 IS32888,IS39417 esv2301386 10 133802815 133803121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526432 S 1 0 1 JAKMIP3 NA18507 nsv523296 10 133804821 133807751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699036 S 2026 0 1 JAKMIP3 nsv825652 10 133805500 133856159 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426912 S 31 1 0 DPYSL4,JAKMIP3 AK6 nsv896140 10 133807751 134023344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530698 S 6533 0 1 DPYSL4,JAKMIP3,LRRC27,STK32C MS10311 esv2643236 10 133818050 133819006 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317455 S 1 1 0 JAKMIP3 NA18507 esv1418735 10 133818503 133818503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724465 S 2 1 0 JAKMIP3 HuRef esv21792 10 133822124 133825589 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20614 S 451 1 2 JAKMIP3 NA18502,NA18909,NA18916 nsv825654 10 133825195 133825648 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427996,nssv1434600 M 31 2 0 JAKMIP3 NA18547,NA18570 nsv896141 10 133825208 133884369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580874 S 6533 0 1 DPYSL4,JAKMIP3,STK32C IS35484 esv2851 10 133837113 133837626 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25292 S 1 0 1 Single Asian sample YH JAKMIP3 YH esv1290967 10 133844127 133844127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763529 S 2 1 0 JAKMIP3 HuRef dgv843n71 10 133846215 133895665 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896142,nsv896143 M 6533 0 2 DPYSL4,JAKMIP3,STK32C MS11579,SP54956 nsv825655 10 133846436 133847240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441324 S 31 1 0 JAKMIP3 NA18969 esv21677 10 133854296 133855746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12973 S 451 0 9 DPYSL4 NA06985,NA11995,NA12004,NA12044,NA15510,NA18517,NA18909,NA19147,NA19240 esv1008205 10 133855012 133855340 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578396 S 3 0 1 DPYSL4 HuRef dgv844n71 10 133855042 133929082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896145,nsv896144 M 6533 0 2 DPYSL4,STK32C MS13727,MS16315 esv1577545 10 133855331 133855440 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074901 S 2 0 1 DPYSL4 HuRef esv1089089 10 133855461 133855570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320925 S 2 0 1 DPYSL4 HuRef dgv845n71 10 133871957 133937980 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896148,nsv896147,nsv896146 M 6533 0 3 STK32C IS30369,IS34005,MS16153 esv272068 10 133878966 133879051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517226 S 157 1 0 Samples from several populations that are part of the HapMap project. STK32C NA18970 nsv896149 10 133889881 134597903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546759 S 6533 0 1 C10orf91,C10orf92,C10orf93,INPP5A,LRRC27,NKX6-2,PWWP2B,STK32C MS17208 nsv470975 10 133910911 133984693 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545008 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STK32C HGDP00465 nsv896150 10 133914242 133948503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592253 S 6533 0 1 STK32C IS39233 esv2109501 10 133917857 133918313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788785 S 1 0 1 STK32C NA18507 nsv467490 10 133919600 133954851 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542771 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STK32C HGDP00543 nsv896151 10 133920710 134208040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543588 S 6533 0 1 C10orf91,INPP5A,LRRC27,PWWP2B,STK32C MS16153 nsv24619 10 133924693 133924693 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43197 M 24 STK32C esv1920267 10 133930928 133931461 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987058 S 1 0 1 STK32C NA18507 esv1302998 10 133931284 133931284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616498 S 2 1 0 STK32C HuRef esv2490403 10 133932056 133932207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258103 S 1 0 1 STK32C NA18507 esv1144814 10 133948329 133948329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758867 S 2 1 0 STK32C HuRef nsv896152 10 133992311 134008532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507432 S 6533 0 1 LRRC27 SP54725 nsv896153 10 133992311 134031051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544275 S 6533 0 1 LRRC27 MS16315 dgv846n71 10 133992311 134150126 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896156,nsv896154,nsv896157,nsv896158 M 6533 0 4 C10orf91,LRRC27,PWWP2B IS33504,IS37646,MS10769,SP54988 nsv896155 10 133993932 134092187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592254 S 6533 0 1 LRRC27,PWWP2B IS39233 dgv121n27 10 134008711 134140516 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467491,nsv467492 M 1557 0 2 C10orf91,LRRC27,PWWP2B NINDS_50,NINDS_60 nsv7627 10 134013678 134038700 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9936,nssv6427,nssv3910 M 9 3 0 LRRC27 NA12156,NA12878,NA18507 esv4951 10 134015407 134016304 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27392 S 1 0 1 Single Asian sample YH LRRC27 YH esv5807 10 134015468 134016253 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28248 S 1 0 1 LRRC27 SJK esv998312 10 134019904 134020011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572813 S 3 0 1 LRRC27 HuRef esv24691 10 134021758 134022815 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14114 S 451 0 3 LRRC27 NA07037,NA18858,NA19257 nsv24519 10 134021932 134022328 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43097 M 24 LRRC27 esv7038 10 134022144 134022823 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29479 S 1 0 1 LRRC27 SJK nsv24027 10 134022661 134022661 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42605 M 24 LRRC27 esv28271 10 134025649 134026754 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17190 S 451 11 0 LRRC27 NA06985,NA12004,NA12239,NA12287,NA15510,NA18909,NA18916,NA19099,NA19114,NA19129,NA19190 esv1988912 10 134026006 134026402 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582107 S 1 0 1 LRRC27 NA18507 esv1253542 10 134026208 134026289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060674 S 2 0 1 LRRC27 HuRef esv1064958 10 134026691 134027095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769087 S 2 0 1 LRRC27 HuRef esv26827 10 134027594 134028531 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13283,esv16785 M 451 4 1 LRRC27 NA06985,NA12004,NA12749,NA15510,NA19108 esv1748190 10 134027904 134027904 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872587 S 2 1 0 LRRC27 HuRef esv2619239 10 134027962 134028408 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283942 S 1 1 0 LRRC27 NA18507 esv7280 10 134028054 134028227 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29721 S 1 0 1 LRRC27 SJK nsv832031 10 134032543 134145535 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448866 S 95 0 1 C10orf91,LRRC27,PWWP2B nsv25370 10 134035562 134035645 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43948 M 24 LRRC27 nsv467493 10 134041801 134100463 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542774 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRC27,PWWP2B HGDP01036 nsv825656 10 134042191 134076720 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426913 S 31 1 0 LRRC27,PWWP2B AK6 nsv896159 10 134045961 134075048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509978,nssv1511440,nssv1508161 M 6533 0 3 PWWP2B SP54725,SP54956,SP55021 dgv847n71 10 134045961 134140516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896164,nsv896163,nsv896162,nsv896160,nsv896167,nsv896166,nsv896165 M 6533 0 10 C10orf91,PWWP2B IS30197,IS30369,IS33178,IS33248,IS35484,IS38293,IS40396,IS40502,MS10698,MS18554 nsv896161 10 134045961 134208040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575098 S 6533 0 1 C10orf91,INPP5A,PWWP2B IS33684 esv26562 10 134050109 134052686 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17042 S 451 1 0 "" NA12044 nsv513301 10 134051635 134052913 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625686 S 1 1 0 "" 1 nsv513302 10 134055911 134056364 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625687 S 1 1 0 "" 1 esv1465610 10 134056090 134056090 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994879 S 2 1 0 "" HuRef nsv470976 10 134063887 134187130 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545011,nssv545010 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf91,PWWP2B HGDP00288,HGDP00298 dgv848n71 10 134064927 134150126 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896169,nsv896168 M 6533 0 2 C10orf91,PWWP2B IS32888,MS10123 esv2338284 10 134067319 134067743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589782 S 1 0 1 PWWP2B NA18507 esv1004404 10 134067488 134067539 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580546 S 3 0 1 PWWP2B HuRef esv1344000 10 134067525 134067577 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710604 S 2 0 1 PWWP2B HuRef nsv825657 10 134075975 134077206 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421977 S 31 1 0 PWWP2B NA18997 dgv326e1 10 134076220 134277057 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7123,essv5316,essv3956 M 271 0 0 C10orf91,INPP5A,PWWP2B NA18537,NA18563,NA18970 esv22049 10 134099478 134100023 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17265 S 451 0 1 "" NA18502 esv7430 10 134103687 134104155 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29871 S 1 0 1 "" SJK esv1495083 10 134104339 134104339 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613000 S 2 1 0 "" HuRef nsv896170 10 134122798 134202610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537116 S 6533 0 1 INPP5A MS13095 nsv509376 10 134136843 134248007 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619808 S 4 1 0 INPP5A NA10860 esv272740 10 134138473 134138813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579003 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271893 10 134138499 134138584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515541,essv2516171 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12815,NA12891 esv1166733 10 134138535 134138535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953248 S 2 1 0 "" HuRef nsv8745 10 134152032 134155572 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20608 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 esv1703411 10 134154156 134154207 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788628 S 2 0 1 "" HuRef nsv896171 10 134155653 134191286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538657 S 6533 0 1 "" MS13770 dgv849n71 10 134155653 134215871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896172,nsv896173 M 6533 0 2 INPP5A IS33248,MS10311 esv2372457 10 134166129 134166582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555830 S 1 0 1 "" NA18507 nsv8747 10 134168012 134170422 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21523,nssv20348,nssv24699,nssv20638,nssv22347,nssv18572,nssv17945,nssv22643,nssv21811,nssv19400,nssv21972,nssv19624,nssv17650,nssv19296,nssv18864,nssv19799,nssv17651,nssv23133,nssv22184,nssv20377 M 31 0 20 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18853,NA18860,NA18972,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 esv2618067 10 134168387 134170560 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309098 S 1 0 1 "" NA18507 nsv820804 10 134168800 134170100 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420909 S 1 0 1 "" NA10851 esv22581 10 134168800 134170340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10622 S 451 0 24 "" NA06985,NA11894,NA11993,NA11995,NA12006,NA12044,NA12239,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190,NA19240,NA19257 esv3515 10 134169215 134170339 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25956 S 1 0 1 Single Asian sample YH "" YH nsv25174 10 134169230 134169823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43752 M 24 "" esv1694896 10 134176067 134176067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737462 S 2 1 0 "" HuRef esv2489001 10 134177783 134178903 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325874 S 1 1 0 "" NA18507 esv24457 10 134185341 134186046 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20705 S 451 12 0 "" NA06985,NA07045,NA11894,NA11995,NA12004,NA12044,NA12239,NA12776,NA18502,NA18907,NA19147,NA19190 esv6535 10 134185602 134185824 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28976 S 1 0 1 "" SJK nsv24857 10 134185816 134185945 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43435 M 24 "" esv25225 10 134215661 134217836 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19475 S 451 1 0 INPP5A NA12044 nsv25372 10 134223106 134223167 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43950 M 24 INPP5A esv999432 10 134236548 134236800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581671 S 3 0 1 INPP5A HuRef esv1277422 10 134236933 134237007 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159050 S 2 0 1 INPP5A HuRef esv1043694 10 134237330 134237511 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259292 S 2 0 1 INPP5A HuRef nsv24819 10 134241973 134241973 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43397 M 24 INPP5A nsv896174 10 134243328 134289468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507328 S 6533 1 0 INPP5A SP54526 dgv850n71 10 134252533 134597903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896175,nsv896180 M 6533 0 2 C10orf92,C10orf93,INPP5A,NKX6-2 MS10311,MS16315 dgv851n71 10 134252533 134863284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896176,nsv896181 M 6533 0 2 C10orf92,C10orf93,GPR123,INPP5A,KNDC1,NKX6-2 MS16153,MS18276 dgv852n71 10 134255031 134486000 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896179,nsv896178,nsv896177 M 6533 0 3 C10orf92,INPP5A,NKX6-2 IS32322,IS33684,IS39233 nsv509377 10 134273479 134337590 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619810 S 4 1 0 INPP5A NA10860 esv28015 10 134274205 134275925 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11684 S 451 3 0 INPP5A NA06985,NA12044,NA15510 nsv7628 10 134276691 134309494 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6428 S 9 1 0 INPP5A NA12156 esv28744 10 134285678 134286565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15333 S 451 0 3 INPP5A NA12878,NA19099,NA19190 nsv821276 10 134285678 134286565 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420910 S 1 0 1 INPP5A NA10851 nsv896182 10 134306752 135003345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538658 S 6533 0 1 ADAM8,C10orf92,C10orf93,CALY,GPR123,INPP5A,KNDC1,MIR202,NKX6-2,TUBGCP2,UTF1,VENTX,ZNF511 MS13770 nsv832032 10 134312216 134515460 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448867 S 95 0 1 C10orf92,INPP5A,NKX6-2 nsv896183 10 134332339 134483343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532445,nssv1595390 M 6533 0 2 C10orf92,INPP5A,NKX6-2 IS40230,MS10769 nsv896184 10 134334421 134417476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510819 S 6533 0 1 INPP5A SP54988 esv1471684 10 134340457 134340457 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109088 S 2 1 0 INPP5A HuRef nsv470977 10 134362510 134477872 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545014,nssv545015,nssv545012,nssv545013 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf92,INPP5A,NKX6-2 HGDP00543,HGDP00550,HGDP00661,HGDP00825 esv1003188 10 134368367 134368419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572038 S 3 0 1 INPP5A HuRef esv1681558 10 134368467 134368520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992457 S 2 0 1 INPP5A HuRef dgv853n71 10 134368493 134483343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896188,nsv896190,nsv896185,nsv896191,nsv896186 M 6533 0 8 C10orf92,INPP5A,NKX6-2 IS32737,IS32888,IS33248,IS33630,IS34005,IS34057,IS38293,SP54956 nsv896187 10 134368493 134628283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573863 S 6533 0 1 C10orf92,C10orf93,INPP5A,NKX6-2 IS33504 nsv896189 10 134388960 134424591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507329 S 6533 1 0 INPP5A SP54526 nsv509378 10 134401267 134496799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619813 S 4 1 0 C10orf92,INPP5A,NKX6-2 NA10860 nsv467496 10 134401721 134466631 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542776 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations INPP5A,NKX6-2 HGDP01029 dgv854n71 10 134404916 134483343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896192,nsv896193,nsv896196 M 6533 0 3 C10orf92,INPP5A,NKX6-2 IS33455,IS34908,MS13095 nsv896194 10 134404916 134771125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533781 S 6533 0 1 C10orf92,C10orf93,GPR123,INPP5A,NKX6-2 MS11306 esv2274837 10 134405037 134405485 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745303 S 1 0 1 INPP5A NA18507 nsv24809 10 134405163 134405217 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43387 M 24 INPP5A nsv24773 10 134405290 134405344 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43351 M 24 INPP5A esv1314079 10 134406679 134406679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603626 S 2 1 0 INPP5A HuRef nsv832033 10 134407230 134534449 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448872,nssv1448869,nssv1448871,nssv1448874,nssv1448875,nssv1448877,nssv1448876,nssv1448868,nssv1448870 M 95 0 9 C10orf92,INPP5A,NKX6-2 dgv855n71 10 134410586 134553055 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896195,nsv896201 M 6533 0 2 C10orf92,INPP5A,NKX6-2 IS37172,MS10386 esv998279 10 134414939 134423285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564750 S 3 0 1 INPP5A HuRef dgv856n71 10 134417476 135024192 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896197,nsv896223 M 6533 0 2 ADAM8,C10orf125,C10orf92,C10orf93,CALY,GPR123,INPP5A,KNDC1,MIR202,NKX6-2,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 IS37646,MS10123 esv992316 10 134421237 134421312 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573625 S 3 0 1 INPP5A HuRef esv1420103 10 134421281 134421357 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804496 S 2 0 1 INPP5A HuRef esv1507539 10 134421653 134421893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703012 S 2 0 1 INPP5A HuRef nsv832034 10 134425035 134603820 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448883,nssv1448879,nssv1448878,nssv1448882,nssv1448881,nssv1448880 M 95 0 6 C10orf92,C10orf93,INPP5A,NKX6-2 dgv183n67 10 134429120 134471919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825658,nsv825659 M 31 2 0 C10orf92,INPP5A,NKX6-2 NA18542,NA18951 esv1685428 10 134431330 134431330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785780 S 2 1 0 INPP5A HuRef esv2619584 10 134434845 134436677 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193269 S 1 0 1 INPP5A NA18507 esv28959 10 134434987 134436382 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16588 S 451 3 3 INPP5A NA06985,NA07037,NA12156,NA12287,NA12749,NA18517 nsv820457 10 134434987 134436382 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420911 S 1 0 1 INPP5A NA10851 nsv25414 10 134435098 134435687 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43992 M 24 INPP5A esv1199957 10 134435193 134435247 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246220 S 2 0 1 INPP5A HuRef esv1197964 10 134435351 134435783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965809 S 2 0 1 INPP5A HuRef nsv25439 10 134435470 134436441 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv44017 M 24 INPP5A esv1579193 10 134435869 134436031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046029 S 2 0 1 INPP5A HuRef dgv857n71 10 134436072 134471432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896198,nsv896203,nsv896204 M 6533 0 3 INPP5A,NKX6-2 SP54043,SP54593,SP55021 dgv858n71 10 134436072 134486000 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896199,nsv896200 M 6533 0 2 C10orf92,INPP5A,NKX6-2 IS38176,SP54988 dgv859n71 10 134436072 134638704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896202,nsv896208 M 6533 0 2 C10orf92,C10orf93,INPP5A,NKX6-2 MS11237,MS11726 esv1531275 10 134436160 134436160 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845030 S 2 1 0 INPP5A HuRef nsv513303 10 134437947 134439176 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625689 S 1 1 0 INPP5A 1 nsv825660 10 134441578 134465372 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426914 S 31 1 0 INPP5A,NKX6-2 AK6 nsv896205 10 134445693 134466631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507423 S 6533 0 1 INPP5A,NKX6-2 SP54684 dgv184n67 10 134445919 134457592 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825662,nsv825661 M 31 2 0 INPP5A,NKX6-2 NA18526,NA18947 nsv825663 10 134446355 134452767 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427695 S 31 1 0 INPP5A,NKX6-2 AK8 nsv896206 10 134447147 134503645 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529843 S 6533 0 1 C10orf92,NKX6-2 MS10123 dgv860n71 10 134447147 134565675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896213,nsv896207 M 6533 0 2 C10orf92,NKX6-2 IS31045,MS13727 esv32864 10 134449360 134449933 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95284 S 51 1 0 NKX6-2 21872 esv2150939 10 134455997 134456344 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900004 S 1 0 1 "" NA18507 dgv861n71 10 134456077 134592065 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896210,nsv896209 M 6533 2 0 C10orf92 MS18376,SP54526 nsv24934 10 134456107 134456283 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43512 M 24 "" nsv527601 10 134457928 134459689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704063 S 2026 0 1 "" dgv862n71 10 134457928 134597903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896214,nsv896211 M 6533 0 2 C10orf92,C10orf93 IS33797,IS35484 nsv825665 10 134460895 134461451 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435295 S 31 0 1 "" NA18942 esv2750852 10 134461000 134516414 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981769,essv6988449 M 771 1 0 C10orf92 BEC_466 esv3354 10 134461664 134462182 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25795 S 1 0 1 Single Asian sample YH "" YH nsv24232 10 134461703 134461850 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42810 M 24 "" esv1002154 10 134461704 134461812 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568690 S 3 0 1 "" HuRef esv2875 10 134462664 134463200 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25316 S 1 0 1 Single Asian sample YH "" YH dgv863n71 10 134466631 134771125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896212,nsv896222,nsv896219 M 6533 0 3 C10orf92,C10orf93,GPR123 IS34235,MS10698,MS11467 nsv825666 10 134466941 134470149 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435298 S 31 0 1 "" NA18942 esv988552 10 134467651 134467651 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568881 S 3 1 0 "" HuRef esv1299228 10 134467685 134467685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309987 S 2 1 0 "" HuRef nsv522491 10 134477872 134483343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705858 S 2026 0 1 C10orf92 esv22659 10 134489534 134490289 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9950 S 451 2 0 C10orf92 NA12004,NA15510 dgv864n71 10 134503645 134564090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896215,nsv896216 M 6533 0 2 C10orf92 IS32737,IS39258 esv2000499 10 134515153 134515541 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776581 S 1 0 1 C10orf92 NA18507 essv22058 10 134515692 134683356 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C10orf92,C10orf93 NA12154 esv2057808 10 134515741 134516145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713567 S 1 0 1 C10orf92 NA18507 esv1556853 10 134515821 134515821 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700519 S 2 1 0 C10orf92 HuRef esv1640821 10 134515895 134515895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337844 S 2 1 0 C10orf92 HuRef nsv509379 10 134519006 134603748 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619816 S 4 1 0 C10orf92,C10orf93 NA10860 nsv896217 10 134519453 134597903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574603,nssv1588220,nssv1532446,nssv1592256 M 6533 0 4 C10orf92,C10orf93 IS33601,IS38176,IS39233,MS10769 nsv470978 10 134519453 134628283 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545016 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf92,C10orf93 HGDP00302 nsv896218 10 134519453 134712542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596051 S 6533 0 1 C10orf92,C10orf93 IS40396 esv1741659 10 134521788 134521788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859379 S 2 1 0 C10orf92 HuRef esv1075802 10 134521832 134521832 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323623 S 2 1 0 C10orf92 HuRef dgv865n71 10 134522842 134638704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896220,nsv896221 M 6533 0 2 C10orf92,C10orf93 IS33455,IS39417 nsv528260 10 134522842 135284293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704827 S 2026 0 1 ADAM8,C10orf125,C10orf92,C10orf93,CALY,CYP2E1,ECHS1,GPR123,KNDC1,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SPRNP1,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 esv1448769 10 134528163 134528163 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907057 S 2 1 0 "" HuRef nsv832035 10 134529437 134669886 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448888,nssv1448887,nssv1448886,nssv1448885,nssv1448891,nssv1448889,nssv1448890 M 95 0 7 C10orf93 esv1504000 10 134538230 134538230 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003756 S 2 1 0 "" HuRef essv22618 10 134542100 134648239 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C10orf93 NA12154 nsv818788 10 134544675 134641871 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415588 S 112 1 0 C10orf93 NA12154 esv25979 10 134551732 134552452 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12134 S 451 4 0 "" NA18508,NA19108,NA19147,NA19190 esv1494269 10 134551856 134551856 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149161 S 2 1 0 "" HuRef esv1221093 10 134551858 134551858 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075878 S 2 1 0 "" HuRef esv1750868 10 134552029 134552029 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015280 S 2 1 0 "" HuRef esv1709311 10 134552117 134552117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894930 S 2 1 0 "" HuRef nsv25054 10 134552136 134552236 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43632 M 24 "" esv1497519 10 134552256 134552256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917314 S 2 1 0 "" HuRef nsv24470 10 134559411 134559486 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43048 M 24 "" nsv467498 10 134564475 134797633 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542777 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf93,GPR123 HGDP00745 dgv866n71 10 134567126 134660391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896224,nsv896226 M 6533 0 2 C10orf93 IS40230,MS16315 nsv896225 10 134574336 134633768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565182 S 6533 0 1 C10orf93 IS30369 dgv867n71 10 134574336 134816144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896229,nsv896227 M 6533 0 2 C10orf93,GPR123 IS32322,IS39233 esv24374 10 134577572 134578267 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14677 S 451 1 2 "" NA12004,NA12878,NA19257 esv1134627 10 134577852 134578083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082452 S 2 0 1 "" HuRef nsv825667 10 134600452 134601471 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437640 S 31 1 0 C10orf93 NA18949 nsv467499 10 134604287 134651068 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542778 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C10orf93 HGDP01289 esv2186698 10 134609965 134610411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579710 S 1 0 1 "" NA18507 nsv896228 10 134611162 134660391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550249 S 6533 1 0 "" MS18376 esv993361 10 134628813 134629456 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586946 S 3 0 1 "" HuRef nsv825668 10 134628813 134629456 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436881 S 31 1 0 "" NA18542 nsv520220 10 134632814 134633768 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694370 S 2026 1 0 "" nsv896230 10 134634476 134669575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546760,nssv1530701 M 6533 0 2 "" MS10311,MS17208 esv988813 10 134639894 134639894 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578421 S 3 1 0 "" HuRef nsv7629 10 134643308 134674469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv975,nssv2853 M 9 2 0 "" NA18555,NA19240 esv1311023 10 134646738 134646814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970273 S 2 0 1 "" HuRef esv2525734 10 134651579 134652984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344451 S 1 0 1 "" NA18507 esv1541947 10 134652264 134652486 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332956 S 2 0 1 "" HuRef esv1004526 10 134659975 134660030 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567216 S 3 0 1 "" HuRef esv1368602 10 134660023 134660079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921045 S 2 0 1 "" HuRef nsv499399 10 134667844 134668002 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586183 S 9 1 0 "" esv1278943 10 134668001 134668001 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605218 S 2 1 0 "" HuRef esv1574122 10 134668519 134668573 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251949 S 2 0 1 "" HuRef dgv868n71 10 134669575 134771125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896234,nsv896231,nsv896232,nsv896233 M 6533 0 7 GPR123 IS32841,IS32918,IS34304,IS37172,IS38176,MS10769,MS12262 nsv896235 10 134674511 134798766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587978 S 6533 0 1 GPR123 IS38144 esv2431941 10 134674638 134674824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334864 S 1 0 1 "" NA18507 esv2478178 10 134680506 134682525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289645 S 1 0 1 "" NA18507 esv3484 10 134681006 134682113 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25925 S 1 0 1 Single Asian sample YH "" YH esv1728712 10 134681134 134681188 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920695 S 2 0 1 "" HuRef esv6144 10 134681320 134682015 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28585 S 1 0 1 "" SJK esv3095 10 134693309 134693790 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25536 S 1 0 1 Single Asian sample YH "" YH dgv327e1 10 134694412 134975393 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16910,essv4586,essv10747,essv11234,essv6707,essv4654,essv17302,essv17051,essv20004,essv11180,essv1111,essv2278 M 271 0 0 ADAM8,GPR123,KNDC1,MIR202,TUBGCP2,UTF1,VENTX,ZNF511 NA07048,NA18523,NA18524,NA18594,NA18608,NA18856,NA18964,NA18966,NA19172,NA19204,NA19205,NA19211 dgv328e1 10 134694412 135072292 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1204,essv7750,essv4355,essv22540,essv7081,essv15214,essv4847,essv1496,essv21665,essv11030,essv18407,essv18640,essv4289,essv7318,essv5415,essv6370,essv1962,essv13472,essv14097,essv15676,essv2349,essv7543,essv3340,essv3758,essv3081,essv3948 M 271 0 0 ADAM8,C10orf125,CALY,ECHS1,GPR123,KNDC1,MIR202,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 NA07348,NA12234,NA12248,NA12249,NA18537,NA18540,NA18542,NA18545,NA18563,NA18570,NA18573,NA18603,NA18609,NA18861,NA18912,NA18940,NA18945,NA18951,NA18959,NA18961,NA18969,NA18970,NA18980,NA19094,NA19143,NA19192 nsv470979 10 134696972 134781774 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545023,nssv545022,nssv545021,nssv545019,nssv545017,nssv545018 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR123 HGDP00290,HGDP00298,HGDP00550,HGDP00789,HGDP00950,HGDP00978 esv2654187 10 134704297 134706093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224056 S 1 0 1 "" NA18507 esv29594 10 134704929 134705698 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9967 S 451 0 1 "" NA18517 dgv869n71 10 134712542 134771125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896237,nsv896236 M 6533 0 2 GPR123 IS33248,IS37985 dgv870n71 10 134712542 134800247 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896238,nsv896255,nsv896245,nsv896256 M 6533 0 5 GPR123 IS32737,IS33684,IS40230,SP54043,SP54988 dgv871n71 10 134712542 134816144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896249,nsv896239 M 6533 0 2 GPR123 IS33630,MS16315 esv1001981 10 134717442 134717521 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585553 S 3 0 1 "" HuRef esv1542639 10 134717533 134717613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843824 S 2 0 1 "" HuRef nsv24506 10 134717534 134717613 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43084 M 24 "" dgv872n71 10 134722159 134757229 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896240,nsv896246 M 6533 0 2 GPR123 IS35007,MS17208 dgv873n71 10 134722159 134774900 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896248,nsv896253,nsv896247,nsv896242,nsv896241,nsv896243,nsv896252,nsv896251 M 6533 0 13 GPR123 IS31656,IS32888,IS33504,IS33514,IS33601,IS34005,IS34057,IS38293,IS38840,IS40502,IS40799,MS10386,MS11237 dgv874n71 10 134722159 134781774 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896254,nsv896244 M 6533 0 2 GPR123 IS33162,IS38262 dgv875n71 10 134723178 134853714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896263,nsv896250 M 6533 0 2 GPR123,KNDC1 MS10311,MS13095 esv2591095 10 134726348 134728532 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215963 S 1 0 1 "" NA18507 nsv8748 10 134726388 134728586 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17681 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv21512 10 134726558 134728403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11021 S 451 0 1 "" NA18523 esv1351601 10 134726996 134727286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730149 S 2 0 1 "" HuRef nsv896257 10 134727107 134852827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550278 S 6533 1 0 GPR123,KNDC1 MS18387 nsv896258 10 134727107 135045322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580877 S 6533 0 1 ADAM8,C10orf125,CALY,ECHS1,GPR123,KNDC1,MIR202,MIR3944,PAOX,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 IS35484 esv1749572 10 134727311 134727766 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327146 S 2 0 1 "" HuRef esv1505045 10 134729113 134729166 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001873 S 2 0 1 "" HuRef esv1716487 10 134729295 134729438 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730136 S 2 0 1 "" HuRef esv1205714 10 134729445 134729609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987880 S 2 0 1 "" HuRef esv29198 10 134732923 134733448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15669 S 451 0 1 "" NA11995 dgv876n71 10 134734585 134771125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896262,nsv896259 M 6533 0 3 GPR123 IS34407,IS38388,SP54684 dgv877n71 10 134739856 134762188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896260,nsv896261 M 6533 0 2 GPR123 SP54725,SP54956 nsv825669 10 134740814 134743449 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421978 S 31 1 0 "" NA18997 esv29278 10 134740974 134743538 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12984 S 451 0 4 "" NA18861,NA18907,NA19114,NA19129 esv1344360 10 134741595 134742193 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768820 S 2 0 1 "" HuRef esv1790357 10 134742381 134742437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735336 S 2 0 1 "" HuRef esv1343233 10 134742751 134743149 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335895 S 2 0 1 "" HuRef esv2261857 10 134744315 134744701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897911 S 1 0 1 "" NA18507 nsv832036 10 134753003 135031726 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448899,nssv1448900,nssv1448903,nssv1448902,nssv1448904,nssv1448901,nssv1448905,nssv1448898,nssv1448894,nssv1448897,nssv1448896,nssv1448892,nssv1448893 M 95 0 13 ADAM8,C10orf125,CALY,ECHS1,GPR123,KNDC1,MIR202,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 nsv896264 10 134755468 134800247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546411 S 6533 0 1 GPR123 MS17208 nsv24013 10 134756242 134756344 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv42591 M 24 GPR123 nsv8749 10 134774290 134778204 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19336,nssv19563,nssv19460,nssv22214 M 31 0 4 Samples from several populations that are part of the HapMap project. GPR123 NA07048,NA18517,NA18552,NA18853 esv25517 10 134774430 134775675 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11423,esv16995 M 451 0 18 GPR123 NA07037,NA12156,NA12828,NA12878,NA18502,NA18505,NA18511,NA18517,NA18523,NA18907,NA18916,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv2369077 10 134774545 134775040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787285 S 1 0 1 GPR123 NA18507 esv1201179 10 134774775 134774775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928055 S 2 1 0 GPR123 HuRef nsv24899 10 134775014 134775181 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43477 M 24 GPR123 esv1303257 10 134775258 134775258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878358 S 2 1 0 GPR123 HuRef esv1144764 10 134775349 134775349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741657 S 2 1 0 GPR123 HuRef esv1960799 10 134775718 134776141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634897 S 1 0 1 GPR123 NA18507 nsv7630 10 134797488 134834333 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8871 S 9 0 1 KNDC1 NA12156 esv996757 10 134798238 134804323 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563662 S 3 0 1 "" HuRef esv24275 10 134798690 134803983 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16664 S 451 0 27 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 nsv511464 10 134798766 134801980 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626079 S 1 0 1 "" 1 esv991043 10 134798950 134803943 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586163 S 3 0 1 "" HuRef esv1032545 10 134803619 134803856 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298401 S 2 0 1 "" HuRef nsv832038 10 134807090 134984241 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448909,nssv1448908,nssv1448907,nssv1448910,nssv1448911,nssv1448912 M 95 1 5 ADAM8,KNDC1,MIR202,TUBGCP2,UTF1,VENTX,ZNF511 nsv896265 10 134811663 134836876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504054 S 6533 1 0 KNDC1 SP52172 esv2259807 10 134814844 134815281 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663059 S 1 0 1 "" NA18507 dgv878n71 10 134818657 134957360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896266,nsv896268 M 6533 0 3 ADAM8,KNDC1,MIR202,TUBGCP2,UTF1,VENTX IS40828,MS10698,MS17522 esv23815 10 134819086 134820089 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14831 S 451 0 2 "" NA12878,NA18916 nsv896267 10 134821790 134906487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599125 S 6533 0 1 KNDC1,UTF1,VENTX IS41410 dgv879n71 10 134821790 135028601 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896270,nsv896269,nsv896272,nsv896271 M 6533 0 12 ADAM8,C10orf125,CALY,ECHS1,KNDC1,MIR202,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 IS30369,IS31656,IS32737,IS32841,IS32888,IS32918,IS33797,IS34005,IS34235,IS40230,MS10769,MS16315 dgv880n71 10 134821790 135145386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896279,nsv896273,nsv896281 M 6533 0 3 ADAM8,C10orf125,CALY,ECHS1,KNDC1,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,UTF1,VENTX,ZNF511 MS10311,MS17208,MS18276 nsv832039 10 134825203 134931158 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448915,nssv1448914,nssv1448913,nssv1448916,nssv1448919,nssv1448918,nssv1448921,nssv1448920,nssv1448922 M 95 0 9 ADAM8,KNDC1,MIR202,UTF1,VENTX esv2151232 10 134827218 134827757 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834047 S 1 0 1 KNDC1 NA18507 esv999631 10 134827395 134827610 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585478 S 3 0 1 KNDC1 HuRef esv1050169 10 134827400 134827616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284536 S 2 0 1 KNDC1 HuRef esv26610 10 134837962 134839742 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12127 S 451 1 0 KNDC1 NA06985 dgv881n71 10 134850149 134906487 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896276,nsv896275,nsv896274 M 6533 0 3 KNDC1,UTF1,VENTX IS33248,SP54043,SP54684 nsv470980 10 134850149 135073008 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545024,nssv545029,nssv545027,nssv545028,nssv545025,nssv545030,nssv545026 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAM8,C10orf125,CALY,ECHS1,KNDC1,MIR202,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 HGDP00288,HGDP00315,HGDP00556,HGDP00657,HGDP00894,HGDP00978,HGDP01412 dgv2e196 10 134853407 135114035 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422225,esv2422278 M 181 2 0 ADAM8,C10orf125,CALY,ECHS1,KNDC1,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,UTF1,VENTX,ZNF511 ND01887,ND04152 dgv882n71 10 134853714 135066460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896277,nsv896280,nsv896298,nsv896290,nsv896278,nsv896299 M 6533 0 7 ADAM8,C10orf125,CALY,ECHS1,KNDC1,MIR202,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,UTF1,VENTX,ZNF511 IS32322,IS33684,IS34304,IS39233,IS39417,IS40396,MS16153 esv1549920 10 134866609 134866717 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815460 S 2 0 1 KNDC1 HuRef essv9566 10 134868158 135255103 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ADAM8,C10orf125,CALY,CYP2E1,ECHS1,KNDC1,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SPRNP1,SYCE1,TUBGCP2,UTF1,VENTX,ZNF511 NA18501 nsv8750 10 134885179 134919981 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19989,nssv22377,nssv22002,nssv21553,nssv19490,nssv20378,nssv18602,nssv19635,nssv24725,nssv19959,nssv19829,nssv19728,nssv18632,nssv19705,nssv19286 M 31 11 2 Samples from several populations that are part of the HapMap project. KNDC1,MIR202,UTF1,VENTX NA07029,NA12155,NA12740,NA18502,NA18504,NA18537,NA18564,NA18853,NA18980,NA19007,NA19132,NA19173,NA19221 esv3360 10 134885220 134885524 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25801 S 1 0 1 Single Asian sample YH KNDC1 YH esv2583286 10 134885280 134887594 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215950 S 1 0 1 KNDC1 NA18507 nsv512194 10 134885299 134888625 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624761 S 1 0 1 KNDC1 1 esv1976405 10 134885773 134886946 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596967 S 1 0 1 KNDC1 NA18507 esv22327 10 134885888 134887398 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15063 S 451 0 1 KNDC1 NA12489 esv1106376 10 134885955 134886309 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167768 S 2 0 1 KNDC1 HuRef esv1090620 10 134886530 134886740 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243777 S 2 0 1 KNDC1 HuRef dgv883n71 10 134886754 135003345 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896287,nsv896284,nsv896307,nsv896289,nsv896283,nsv896292,nsv896282,nsv896302,nsv896295,nsv896296,nsv896288,nsv896297 M 6533 0 12 ADAM8,CALY,KNDC1,MIR202,TUBGCP2,UTF1,VENTX,ZNF511 IS33178,IS33504,IS35675,IS37467,IS40297,IS40502,IS40799,IS40902,MS10386,MS11237,MS19277,SP54988 esv1213053 10 134886827 134886827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208875 S 2 1 0 KNDC1 HuRef dgv884n71 10 134888118 134934312 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896285,nsv896293 M 6533 0 2 ADAM8,KNDC1,MIR202,UTF1,VENTX SP54956,SP55021 dgv885n71 10 134888118 134957360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896294,nsv896291,nsv896286 M 6533 0 3 ADAM8,KNDC1,MIR202,TUBGCP2,UTF1,VENTX IS37646,MS11054,SP54725 dgv185n67 10 134893522 134895018 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825670,nsv825671 M 31 2 0 UTF1 AK12,AK18 nsv820950 10 134893522 134895018 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420912 S 1 0 1 UTF1 NA10851 nsv516968 10 134903011 134939025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674824,nssv676043,nssv653528,nssv696897,nssv658118,nssv661060,nssv666847,nssv653445,nssv681112,nssv656647,nssv651700,nssv689838,nssv684237,nssv676479,nssv696636,nssv655749,nssv692927,nssv679839 M 2026 0 18 ADAM8,MIR202,VENTX dgv886n71 10 134903403 135003345 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896308,nsv896300,nsv896309 M 6533 5 0 ADAM8,CALY,MIR202,TUBGCP2,VENTX,ZNF511 IS33240,IS33243,IS33406,IS37825,IS38603 nsv896301 10 134906487 134941792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588674 S 6533 1 0 ADAM8,MIR202 IS38232 dgv887n71 10 134906487 135045322 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896303,nsv896311,nsv896304 M 6533 4 0 ADAM8,C10orf125,CALY,ECHS1,MIR202,MIR3944,PAOX,PRAP1,TUBGCP2,ZNF511 IS31800,IS33066,IS34912,IS41786 esv1001196 10 134907053 134907053 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577667 S 3 1 0 "" HuRef esv1456436 10 134907125 134907125 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973561 S 2 1 0 "" HuRef essv20368 10 134908709 135072292 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ADAM8,C10orf125,CALY,ECHS1,MIR202,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,ZNF511 NA10830 nsv428243 10 134908709 135354737 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451989,nssv451987,nssv451988,nssv451985 M 62 4 0 ADAM8,C10orf125,CALY,CYP2E1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,ECHS1,FRG2B,LOC619207,MIR202,MIR3944,MTG1,PAOX,PRAP1,SPRN,SPRNP1,SYCE1,TUBGCP2,ZNF511 HGDP00473,HGDP00474,NA19181,NA19225 nsv509381 10 134910027 134954488 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619820 S 4 1 0 ADAM8,MIR202,TUBGCP2 NA10860 dgv888n71 10 134910722 134941792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896306,nsv896305 M 6533 0 2 ADAM8,MIR202 SP54043,SP54684 dgv122n27 10 134920995 134996704 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467502,nsv467507,nsv467508,nsv467504 M 1557 0 4 ADAM8,CALY,TUBGCP2,ZNF511 1780862540_A,HGDP00784,HGDP00974,HGDP01251 nsv896310 10 134920995 135003345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572655,nssv1574605 M 6533 0 2 ADAM8,CALY,TUBGCP2,ZNF511 IS33162,IS33601 nsv25127 10 134923877 134923877 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv43705 M 24 "" esv1000256 10 134923907 134923907 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567968 S 3 1 0 "" HuRef esv1512461 10 134923953 134923953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736775 S 2 1 0 "" HuRef dgv3e196 10 134929791 135114035 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422513,esv2422352,esv2422298 M 181 3 0 ADAM8,C10orf125,CALY,ECHS1,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 ND01577,ND03123,ND03664 nsv896312 10 134929852 134949523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500303 S 6533 0 1 ADAM8,TUBGCP2 SP50159 esv2750853 10 134929852 135284541 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985584,essv6981490,essv6981491,essv6981492 M 771 1 0 ADAM8,C10orf125,CALY,CYP2E1,ECHS1,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,SPRNP1,SYCE1,TUBGCP2,ZNF511 BEC_280 dgv889n71 10 134941792 135145386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896315,nsv896313 M 6533 0 2 C10orf125,CALY,ECHS1,LOC619207,MIR3944,MTG1,PAOX,PRAP1,SPRN,TUBGCP2,ZNF511 IS37646,SP54956 nsv896314 10 134943663 135045322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579709 S 6533 1 0 C10orf125,CALY,ECHS1,MIR3944,PAOX,PRAP1,TUBGCP2,ZNF511 IS35167 esv2536519 10 134954463 134956572 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371357 S 1 0 1 TUBGCP2 NA18507 esv23338 10 134954554 134955993 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10215 S 451 1 23 TUBGCP2 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18858,NA18907,NA18916,NA19129,NA19240 nsv512195 10 134954645 134955989 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624762 S 1 0 1 TUBGCP2 1 esv2894 10 134954706 134956102 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25335 S 1 0 1 Single Asian sample YH TUBGCP2 YH esv7552 10 134955678 134955980 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29993 S 1 0 1 TUBGCP2 SJK nsv819663 10 134963241 134965115 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419349 S 2 0 1 TUBGCP2 AK1 nsv832040 10 134965054 135076135 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448925,nssv1448924,nssv1448923 M 95 0 3 C10orf125,CALY,ECHS1,MIR3944,MTG1,PAOX,PRAP1,TUBGCP2,ZNF511 esv988628 10 134966618 134966618 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575271 S 3 1 0 TUBGCP2 HuRef esv27378 10 134979492 134982220 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13683 S 451 2 1 "" NA06985,NA11995,NA12044 nsv467509 10 134991562 135066460 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542785 S 1557 0 1 C10orf125,CALY,ECHS1,MIR3944,MTG1,PAOX,PRAP1 1780854339_A nsv8751 10 134993374 135017525 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24751,nssv22032 M 31 2 0 Samples from several populations that are part of the HapMap project. CALY,PRAP1 NA18502,NA19221 nsv825672 10 134996906 134998428 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428511 S 31 1 0 CALY AK10 esv1007150 10 135001231 135003661 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587185 S 3 0 1 "" HuRef nsv896316 10 135003345 135075656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589408 S 6533 1 0 C10orf125,ECHS1,MIR3944,MTG1,PAOX,PRAP1 IS38350 nsv527785 10 135007945 135066460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704276 S 2026 0 1 C10orf125,ECHS1,MIR3944,MTG1,PAOX,PRAP1 nsv470981 10 135028601 135284293 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545061,nssv545037,nssv545039,nssv545068,nssv545048,nssv545060,nssv545038,nssv545042,nssv545033,nssv545056,nssv545046,nssv545066,nssv545034,nssv545053,nssv545055,nssv545040,nssv545035,nssv545058,nssv545036,nssv545059,nssv545041,nssv545051,nssv545044,nssv545052,nssv545062,nssv545057,nssv545049,nssv545047,nssv545050,nssv545067,nssv545045,nssv545064,nssv545063 M 443 33 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP2E1,ECHS1,LOC619207,MIR3944,MTG1,PAOX,SPRN,SPRNP1,SYCE1 HGDP00062,HGDP00066,HGDP00388,HGDP00451,HGDP00456,HGDP00458,HGDP00459,HGDP00466,HGDP00470,HGDP00473,HGDP00474,HGDP00475,HGDP00479,HGDP00602,HGDP00621,HGDP00653,HGDP00686,HGDP00688,HGDP00713,HGDP00875,HGDP00879,HGDP00881,HGDP00891,HGDP00904,HGDP00926,HGDP00939,HGDP00940,HGDP01036,HGDP01088,HGDP01199,HGDP01261,HGDP01358,HGDP01359 nsv896317 10 135030420 135120567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510823 S 6533 0 1 ECHS1,LOC619207,MIR3944,MTG1,PAOX,SPRN SP54988 esv4876 10 135032830 135033233 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27317 S 1 0 1 Single Asian sample YH ECHS1 YH esv1004331 10 135032848 135032947 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575920 S 3 0 1 ECHS1 HuRef esv1281382 10 135032938 135033038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825178 S 2 0 1 ECHS1 HuRef dgv35e55 10 135034109 135284541 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750869,esv2750874,esv2750868,esv2750856,esv2750873,esv2750855,esv34689,esv34643,esv2750866,esv2750871,esv2750865,esv2750858,esv34512,esv2750854,esv2750857,esv2750859,esv2750860,esv2750861,esv2750862,esv2750863,esv2750864,esv2750867,esv2750870,esv2750872 M 771 24 0 CYP2E1,ECHS1,LOC619207,MIR3944,MTG1,PAOX,SPRN,SPRNP1,SYCE1 BEC_303,BEC_32,BEC_352,BEC_414,BEC_415,BEC_428,BEC_529,BEC_552,BEC_581,BEC_589,BEC_608,BEC_635,BEC_656,BEC_721,BEC_740,BEC_765,BEC_774,BEC_806,NA12234,NA18515,NA18516,SPC_129,SPC_71,SPC_93 dgv329e1 10 135040560 135254526 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10491,essv11287,essv17136,essv18593,essv13677,essv15490,essv19852,essv10184,essv9378,essv13815,essv13830,essv9078,essv3322,essv8426,essv228,essv20636,essv25084,essv16066,essv9952 M 271 0 0 CYP2E1,LOC619207,MTG1,PAOX,SPRN,SPRNP1,SYCE1 NA12234,NA12892,NA18501,NA18505,NA18515,NA18516,NA18853,NA18854,NA18948,NA19119,NA19132,NA19171,NA19204 nsv7631 10 135052003 135236608 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv976,nssv8872 M 9 0 2 CYP2E1,LOC619207,MTG1,PAOX,SPRN,SPRNP1,SYCE1 NA12156,NA19240 dgv123n27 10 135052584 135284293 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467516,nsv467529,nsv467510 M 1557 3 0 CYP2E1,LOC619207,MTG1,PAOX,SPRN,SPRNP1,SYCE1 1780854574_A,HGDP00812,HGDP00904 nsv832041 10 135053662 135212363 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448926 S 95 1 0 CYP2E1,LOC619207,MTG1,PAOX,SPRN nsv896318 10 135054789 135134088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598880 S 6533 1 0 LOC619207,MTG1,PAOX,SPRN IS41224 dgv890n71 10 135066460 135277160 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896323,nsv896324,nsv896351,nsv896364,nsv896319,nsv896322,nsv896325,nsv896331,nsv896337,nsv896362,nsv896352,nsv896336,nsv896353,nsv896363,nsv896332,nsv896338 M 6533 96 0 CYP2E1,LOC619207,MTG1,SPRN,SPRNP1,SYCE1 IS30537,IS31074,IS31144,IS31778,IS32259,IS32365,IS33726,IS35107,IS35189,IS35225,IS38492,IS41842,MS10301,MS10445,MS10959,MS11497,MS11558,MS11867,MS12212,MS12520,MS12545,MS12837,MS12947,MS13028,MS13169,MS13401,MS13455,MS13561,MS14164,MS14281,MS14437,MS14451,MS14724,MS14846,MS15090,MS15206,MS15337,MS15480,MS15515,MS15743,MS16323,MS16821,MS17359,MS17562,MS17852,MS18416,MS18799,MS18837,MS18916,MS18940,MS19324,MS19756,MS20062,MS20710,MS20830,MS20854,MS21017,MS21216,MS21249,MS21532,MS21722,MS21738,MS21937,MS22338,MS22807,MS23105,MS23142,MS24031,MS24477,MS25255,MS25284,MS25308,MS25331,MS25589,MS25885,SP50900,SP52124,SP52253,SP52680,SP53491,SP53509,SP53550,SP53572,SP54535,SP56072,SP56324,SP56348,SP56395,SP56833,SP56927,SP57205,SP57472,SP58132,SP58259,SP80977,SP81582 nsv517180 10 135066460 135284293 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687512,nssv682900,nssv661624,nssv698119,nssv657963,nssv663056,nssv672223,nssv690928,nssv687435,nssv692162,nssv680873,nssv668197,nssv672413,nssv705056,nssv667391,nssv655537,nssv660580,nssv681949,nssv690092,nssv687837,nssv666409,nssv658374,nssv667440,nssv678719,nssv686329,nssv662831,nssv687168,nssv658060,nssv653402,nssv678001,nssv670577,nssv680810,nssv657179,nssv664400,nssv683362,nssv686576,nssv652615,nssv671012,nssv653183,nssv680389,nssv675556,nssv654461,nssv682549,nssv689283,nssv678782,nssv684387,nssv687471,nssv654927,nssv681731,nssv656384,nssv696053,nssv655823,nssv678183,nssv693484,nssv660645,nssv653938,nssv691097,nssv660322,nssv698118,nssv653384,nssv691469,nssv684792,nssv666012,nssv662446,nssv664911,nssv659767,nssv682724,nssv659140,nssv703733,nssv703735,nssv653363,nssv693685,nssv686238,nssv679185,nssv690435,nssv683121,nssv654250,nssv676803,nssv668289,nssv662374,nssv681152,nssv675251,nssv657035,nssv676977,nssv664845,nssv691290,nssv658277,nssv705057,nssv677441,nssv658202,nssv676538,nssv675744,nssv705683,nssv692592,nssv675881,nssv677078,nssv689726,nssv681572,nssv686523,nssv659464 M 2026 95 5 CYP2E1,LOC619207,MTG1,SPRN,SPRNP1,SYCE1 dgv124n27 10 135067946 135134105 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467511,nsv467512,nsv467513 M 1557 3 0 LOC619207,MTG1,SPRN HGDP00407,HGDP00423,HGDP00433 dgv125n27 10 135067946 135227438 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467522,nsv467520,nsv467514,nsv467519,nsv467523,nsv467521,nsv467518 M 1557 7 0 CYP2E1,LOC619207,MTG1,SPRN,SYCE1 1780854418_A,HGDP00388,HGDP00534,HGDP00879,HGDP00881,HGDP01359,NINDS_89 dgv891n71 10 135075656 135145386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896320,nsv896333 M 6533 0 2 LOC619207,MTG1,SPRN IS40396,MS17208 nsv896321 10 135075656 135207229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521385 S 6533 1 0 CYP2E1,LOC619207,MTG1,SPRN SP52364 nsv469597 10 135078860 135240498 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649712 M 265 6 0 Samples from several populations that are part of the HapMap project. CYP2E1,LOC619207,MTG1,SPRN,SPRNP1,SYCE1 nsv514545 10 135082048 135227376 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628077 S 1414 1 0 CYP2E1,LOC619207,MTG1,SPRN,SYCE1 dgv892n71 10 135085880 135215135 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896357,nsv896326,nsv896329,nsv896334,nsv896343,nsv896355,nsv896345,nsv896346,nsv896359,nsv896342,nsv896328,nsv896347,nsv896341,nsv896344,nsv896358,nsv896327,nsv896356 M 6533 27 0 CYP2E1,LOC619207,SPRN IS34709,IS35431,IS40356,IS40382,IS40681,MS10074,MS10433,MS11635,MS11663,MS13771,MS15092,MS15596,MS18979,MS19746,MS19922,MS20200,SP51254,SP51398,SP52390,SP53317,SP54672,SP55310,SP55456,SP55462,SP55878,SP81010,SP81526 dgv893n71 10 135085880 135235772 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv896349,nsv896350,nsv896361,nsv896330,nsv896335 M 6533 60 7 CYP2E1,LOC619207,SPRN,SPRNP1,SYCE1 IS31022,IS31765,IS33544,IS34482,IS37040,IS38671,IS39522,IS39687,IS40241,MS10567,MS12509,MS14247,MS14289,MS14835,MS15022,MS15048,MS16334,MS16436,MS16902,MS17718,MS17857,MS17902,MS18070,MS18212,MS18454,MS18465,MS18677,MS19584,MS19634,MS20009,MS20627,MS20872,MS24032,MS24275,MS24886,MS25087,MS25092,MS25166,MS25511,SP50107,SP50519,SP50548,SP50580,SP50653,SP50692,SP50742,SP50839,SP51161,SP51265,SP51350,SP51387,SP51469,SP52187,SP52529,SP53023,SP54002,SP54047,SP55183,SP55537,SP55829,SP55851,SP57689,SP58091,SP80969,SP81156,SP81172,SP81507 esv33719 10 135086002 135237823 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101176 S 51 1 0 CYP2E1,LOC619207,SPRN,SPRNP1,SYCE1 21618 esv28562 10 135087012 135374587 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21335,esv12779,esv15777,esv11443,esv20969,esv20766,esv18130,esv19981,esv21336,esv14051,esv10825,esv18890,esv17485,esv13155 M 451 34 10 CYP2E1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,FRG2B,LOC619207,SPRN,SPRNP1,SYCE1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv498746 10 135088283 135233579 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586384 S 9 0 1 CYP2E1,LOC619207,SPRNP1,SYCE1 nsv511450 10 135090909 135093122 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626063 S 1 0 1 "" 1 esv2421904 10 135092863 135227438 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053620,essv5150262,essv5040889,essv5142339,essv5086824,essv5072983,essv5028800,essv5123116,essv5139191,essv5032213,essv5092603,essv5071224,essv5072443,essv5099885,essv5131188,essv5118532,essv5014455,essv5066182,essv5113851,essv5073144,essv5103169,essv5150826,essv5019876,essv5036437,essv5047609,essv5056497,essv5008342,essv5147396,essv5145954,essv5093807,essv5025515,essv5113633,essv5114561,essv5024598,essv5125735,essv5153921,essv5114514,essv5047110,essv5109373,essv5125722,essv5140076,essv5039117,essv5058344,essv5146363,essv5128547,essv5148178,essv5057449,essv5160946,essv5008059,essv5071097,essv5081598,essv5016953,essv5046817,essv5002311,essv5130682,essv5057330,essv5082485,essv5144060,essv5159729,essv5116420,essv5018913,essv5142797,essv5090049,essv5115800,essv5051627,essv5046390,essv5038685,essv5065619,essv5016832,essv5130687,essv5042779,essv5096835,essv5158608,essv5075477,essv5076313,essv5012132,essv5130820,essv5134256,essv5107796,essv5033808,essv5100634,essv5074322,essv5100661,essv5053734,essv5051999,essv5105869,essv5139421,essv5057218,essv5118612,essv5020853,essv5080432,essv5044404,essv5095118,essv5143985,essv5065760,essv5079816,essv5063103,essv5133502,essv5118995,essv5086818,essv5043685,essv5030077,essv5035201,essv5033938,essv5043880,essv5108109,essv5031241,essv5046037 M 1184 108 0 CYP2E1,LOC619207,SYCE1 NA12234,NA12287,NA12489,NA12872,NA12892,NA17972,NA17976,NA18108,NA18501,NA18505,NA18515,NA18516,NA18631,NA18645,NA18853,NA18854,NA18935,NA18948,NA19060,NA19088,NA19095,NA19119,NA19128,NA19130,NA19132,NA19143,NA19147,NA19153,NA19154,NA19171,NA19181,NA19183,NA19184,NA19186,NA19191,NA19194,NA19198,NA19199,NA19204,NA19210,NA19224,NA19225,NA19226,NA19309,NA19311,NA19314,NA19328,NA19373,NA19385,NA19394,NA19397,NA19434,NA19443,NA19445,NA19470,NA19660,NA19701,NA19702,NA19716,NA19718,NA19901,NA19908,NA19914,NA19915,NA19919,NA20279,NA20282,NA20284,NA20288,NA20291,NA20292,NA20322,NA20341,NA20356,NA20357,NA20358,NA20765,NA20795,NA20811,NA21308,NA21309,NA21311,NA21312,NA21314,NA21320,NA21356,NA21360,NA21361,NA21362,NA21366,NA21423,NA21425,NA21436,NA21438,NA21485,NA21486,NA21491,NA21494,NA21522,NA21524,NA21525,NA21578,NA21587,NA21693,NA21723,NA21733,NA21739,NA21741 nsv442593 10 135092867 135146259 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC619207 nsv511439 10 135094417 135095834 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626051 S 1 0 1 "" 1 nsv820796 10 135094711 135095466 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420914 S 1 0 1 "" NA10851 esv1313818 10 135094763 135095447 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855887 S 2 0 1 "" HuRef nsv436819 10 135096095 135229381 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466623 S 2 1 0 Samples from several populations that are part of the HapMap project. CYP2E1,LOC619207,SYCE1 NA18505 nsv8752 10 135097153 135356692 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19623,nssv19316,nssv17771,nssv19825,nssv21583,nssv21841,nssv19735,nssv20019,nssv19654,nssv19326,nssv24776,nssv19386,nssv22673,nssv19795,nssv22407,nssv19593,nssv19818,nssv17962,nssv19788,nssv19366,nssv19356,nssv18662,nssv18894,nssv19859,nssv17711,nssv23161,nssv20468,nssv20049,nssv19520,nssv22062,nssv20438,nssv20437 M 31 14 13 Samples from several populations that are part of the HapMap project. CYP2E1,DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,FRG2B,LOC619207,SPRNP1,SYCE1 NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18552,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19221,NA19240 nsv896339 10 135102337 135145386 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500015 S 6533 1 0 LOC619207 SP50097 dgv894n71 10 135102337 135174266 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896340,nsv896354 M 6533 2 0 LOC619207 IS40458,MS23885 dgv895n71 10 135102337 135252190 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896360,nsv896348,nsv896367,nsv896366,nsv896365,nsv896375 M 6533 10 0 CYP2E1,LOC619207,SPRNP1,SYCE1 IS41128,MS10580,MS17255,MS17522,MS18503,MS18742,MS20286,MS21189,MS22122,SP54768 dgv330e1 10 135104442 135255103 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12145,essv15954,essv8501 M 271 0 0 CYP2E1,LOC619207,SPRNP1,SYCE1 NA18505,NA18515,NA18854 dgv126n27 10 135108137 135227438 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467535,nsv467540,nsv467553,nsv467563,nsv467532,nsv467551,nsv467552,nsv467545,nsv467564,nsv467544,nsv467618,nsv467541,nsv467565,nsv467549,nsv467562,nsv467556,nsv467557,nsv467559,nsv467538,nsv467560,nsv467534,nsv467533,nsv467536,nsv467542,nsv467555,nsv467548,nsv467547,nsv467543,nsv467537,nsv467546,nsv467554 M 1557 31 0 CYP2E1,LOC619207,SYCE1 1780862021_A,1780862175_A,HGDP00037,HGDP00062,HGDP00066,HGDP00141,HGDP00456,HGDP00458,HGDP00473,HGDP00602,HGDP00653,HGDP00686,HGDP00713,HGDP00733,HGDP00741,HGDP00768,HGDP00775,HGDP00875,HGDP00891,HGDP00926,HGDP00939,HGDP00976,HGDP01036,HGDP01152,HGDP01247,HGDP01358,NINDS_136,NINDS_155,NINDS_255,NINDS_34,NINDS_49 nsv818790 10 135116379 135227438 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417775,nssv1417909,nssv1416470,nssv1416175,nssv1417908,nssv1416471 M 112 6 0 CYP2E1,LOC619207,SYCE1 NA12234,NA12892,NA18515,NA18516,NA18853,NA18854 dgv127n27 10 135116379 135284293 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467606,nsv467602,nsv467604,nsv467607,nsv467601,nsv467624 M 1557 6 0 CYP2E1,LOC619207,SPRNP1,SYCE1 1780854117_A,1780854260_A,1780854318_A,1780854495_A,1782681495_A,HGDP00791 esv2750875 10 135119945 135238109 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989354,essv6983229,essv6983230,essv6989759 M 771 0 1 CYP2E1,LOC619207,SPRNP1,SYCE1 BEC_558 dgv36e55 10 135119945 135284541 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34297,esv2750876,esv2750878,esv34396,esv34260,esv34265,esv34922,esv35167,esv2750877,esv2750879,esv2750880,esv2750881,esv2750882,esv34442 M 771 14 0 CYP2E1,LOC619207,SPRNP1,SYCE1 BEC_366,BEC_405,BEC_551,BEC_576,BEC_631,BEC_820,NA12892,NA18501,NA18505,NA18853,NA18854,NA18948,NA19204,SPC_165 dgv896n71 10 135126627 135235772 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896377,nsv896370,nsv896378,nsv896374,nsv896368,nsv896373,nsv896376 M 6533 10 0 CYP2E1,LOC619207,SPRNP1,SYCE1 MS10470,MS13058,MS13469,MS16152,MS16399,MS17112,MS19483,SP50904,SP52881,SP54311 dgv897n71 10 135128183 135202003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896369,nsv896372,nsv896371 M 6533 3 0 CYP2E1,LOC619207 MS18209,MS18348,MS22653 nsv832042 10 135128553 135270382 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448927 S 95 1 0 CYP2E1,LOC619207,SPRNP1,SYCE1 nsv508612 10 135138364 135176114 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617386,nssv618995 M 4 0 2 "" CHM,NA10860 nsv821584 10 135139936 135145466 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420915 S 1 0 1 "" NA10851 esv1000080 10 135140536 135144792 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564509 S 3 0 1 "" HuRef nsv512196 10 135140638 135144809 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624763 S 1 0 1 "" 1 esv1072863 10 135140927 135141721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002050 S 2 0 1 "" HuRef esv997088 10 135143560 135144599 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576176 S 3 0 1 "" HuRef dgv128n27 10 135153022 135252190 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467622,nsv467623 M 1557 2 0 CYP2E1,SPRNP1,SYCE1 1780854158_A,HGDP00546 dgv898n71 10 135153022 135252190 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896379,nsv896382,nsv896381 M 6533 5 0 CYP2E1,SPRNP1,SYCE1 MS10941,MS13336,MS24135,SP58325,SP81495 nsv896380 10 135156584 135192250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529701 S 6533 1 0 CYP2E1 MS10106 nsv896383 10 135174266 135193157 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559343 S 6533 1 0 CYP2E1 MS23885 dgv899n71 10 135174266 135195330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896385,nsv896386,nsv896384 M 6533 0 3 CYP2E1 MS16315,MS18276,SP54988 nsv896387 10 135174266 135202003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548899 S 6533 1 0 CYP2E1 MS17906 dgv900n71 10 135174266 135235772 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896393,nsv896394,nsv896388 M 6533 5 0 CYP2E1,SPRNP1,SYCE1 MS11157,MS17879,MS18598,MS21517,SP50097 dgv37e55 10 135174899 135284541 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34818,esv35112,esv34914,esv35006,esv34487,esv34721,esv34810,esv35034 M 771 8 0 CYP2E1,SPRNP1,SYCE1 NA19119,NA19128,NA19130,NA19143,NA19154,NA19171,NA19194,NA19210 nsv442594 10 135178653 135227268 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CYP2E1,SYCE1 dgv901n71 10 135184332 135195330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896390,nsv896389 M 6533 0 2 CYP2E1 IS32322,MS10698 dgv902n71 10 135184332 135202003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896391,nsv896399,nsv896400 M 6533 3 0 CYP2E1 MS10739,MS11284,MS16137 nsv896392 10 135184332 135219044 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547168 S 6533 1 0 CYP2E1,SYCE1 MS17221 dgv903n71 10 135184332 135252190 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896395,nsv896413,nsv896415,nsv896410,nsv896420,nsv896417,nsv896404 M 6533 12 0 CYP2E1,SPRNP1,SYCE1 IS40382,IS40458,IS40681,MS10106,MS13771,MS15496,MS18979,MS19922,MS20200,MS22653,MS23031,MS23885 dgv904n71 10 135184332 135296458 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896396,nsv896405,nsv896397 M 6533 3 0 CYP2E1,FRG2B,SPRNP1,SYCE1 MS15835,MS21506,MS24213 dgv905n71 10 135184332 135320785 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896423,nsv896398 M 6533 2 0 CYP2E1,FRG2B,SPRNP1,SYCE1 IS40356,MS13207 dgv331e1 10 135185286 135282675 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8260,essv11348,essv8583,essv14944,essv8999,essv15160,essv16560,essv14831,essv10501,essv8892 M 271 0 0 CYP2E1,SPRNP1,SYCE1 NA19119,NA19128,NA19130,NA19132,NA19143,NA19153,NA19171,NA19193,NA19194,NA19210 nsv482150 10 135190857 135202610 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558511 S 1 1 0 CYP2E1 KB1 nsv896401 10 135195665 135202003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539850 S 6533 1 0 CYP2E1 MS14522 dgv906n71 10 135195665 135239466 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896403,nsv896411,nsv896412,nsv896416,nsv896419,nsv896402,nsv896407,nsv896414,nsv896418 M 6533 15 0 CYP2E1,SPRNP1,SYCE1 IS34709,IS40264,IS40728,MS11635,MS15596,MS16137,MS17906,MS18209,MS19746,SP53317,SP54672,SP55310,SP55456,SP55462,SP81526 dgv907n71 10 135195964 135207613 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896406,nsv896408 M 6533 2 0 CYP2E1 SP51254,SP52390 nsv896409 10 135196364 135215135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519375 S 6533 1 0 CYP2E1 SP81010 dgv129n27 10 135202003 135284293 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467625,nsv467627,nsv467626 M 1557 3 0 CYP2E1,SPRNP1,SYCE1 HGDP00475,HGDP00479,HGDP01261 dgv8n64 10 135202003 135284293 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818792,nsv818791,nsv818793 M 112 5 0 CYP2E1,SPRNP1,SYCE1 NA19119,NA19143,NA19171,NA19193,NA19194 nsv819137 10 135202601 135217498 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418647 S 2 0 1 CYP2E1,SYCE1 AK1 dgv908n71 10 135207229 135284293 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896421,nsv896422 M 6533 2 0 SPRNP1,SYCE1 MS14522,MS15014 nsv896424 10 135209148 135235772 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502758 S 6533 1 0 SPRNP1,SYCE1 SP51398 essv9488 10 135216092 135282675 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SPRNP1,SYCE1 NA19154 nsv482151 10 135217394 135232866 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558512 S 1 1 0 SPRNP1,SYCE1 KB1 esv35157 10 135221095 135272495 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980834,essv6980835 M 771 1 0 SPRNP1,SYCE1 NA19132 dgv909n71 10 135227438 135320785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896427,nsv896426,nsv896425 M 6533 0 5 FRG2B,SPRNP1,SYCE1 IS30067,IS34185,IS35015,IS35210,IS41576 nsv896428 10 135227438 135374737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592678 S 6533 1 0 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,FRG2B,SPRNP1,SYCE1 IS39243 esv2419070 10 135230116 135230565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976935 S 1 0 1 SPRNP1,SYCE1 NA18507 esv1354504 10 135230312 135230383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315441 S 2 0 1 SPRNP1,SYCE1 HuRef nsv896429 10 135235772 135284963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576512 S 6533 0 1 "" IS34083 esv2750883 10 135250508 135284541 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984688,essv6989447,essv6990004 M 771 0 1 "" SPC_166 nsv442214 10 135250509 135356694 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,FRG2B nsv467629 10 135252190 135284293 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542853 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00092 nsv896430 10 135252190 135320785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527856 S 6533 0 1 FRG2B SP81040 nsv896431 10 135278255 135296458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568842 S 6533 1 0 FRG2B IS31359 nsv896432 10 135279171 135312573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548355 S 6533 0 1 FRG2B MS17817 nsv896433 10 135279590 135312573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524258 S 6533 1 0 FRG2B SP54941 dgv4n31 10 135284110 135369361 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471481,nsv471488 M 3 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7,FRG2B esv990158 10 135319636 135319636 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567326 S 3 1 0 "" HuRef nsv471357 10 135333669 135341873 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548065,nssv548064,nssv548063 M 3 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7 nsv482152 10 135333669 135341873 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558513 S 1 1 0 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L5,DUX4L6,DUX4L7 KB1 dgv910n71 11 1 234552 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896434,nsv896435 M 6533 3 0 BET1L,LOC100133161,ODF3,PSMD13,RIC8A,SCGB1C1,SIRT3 IS30771,IS31286,IS39243 nsv8753 11 50001 97470 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21613,nssv23189,nssv17929,nssv19684,nssv19665 M 31 2 3 Samples from several populations that are part of the HapMap project. "" NA10839,NA18504,NA18537,NA18572,NA18860 esv22231 11 50059 206243 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11376,esv12052,esv17228,esv16761 M 451 20 0 BET1L,LOC100133161,ODF3,RIC8A,SCGB1C1,SIRT3 NA06985,NA07037,NA11993,NA12006,NA12156,NA12287,NA12776,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225,NA19257 nsv896436 11 157078 258219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504041 S 6533 1 0 BET1L,ODF3,PSMD13,RIC8A,SCGB1C1,SIRT3 SP52165 nsv821431 11 164863 182394 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420916 S 1 1 0 "" NA10851 nsv512197 11 166507 179589 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624764 S 1 0 1 "" 1 esv1537776 11 176586 176684 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656352 S 2 0 1 "" HuRef esv1703179 11 176705 176754 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198223 S 2 0 1 "" HuRef esv2307328 11 182147 182577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697236 S 1 0 1 "" NA18507 nsv896437 11 182155 242318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546764 S 6533 0 1 BET1L,ODF3,PSMD13,RIC8A,SCGB1C1,SIRT3 MS17208 dgv911n71 11 182155 575265 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896438,nsv896448 M 6533 2 0 ANO9,ATHL1,B4GALNT4,BET1L,C11orf35,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,LOC143666,LRRC56,MIR210,MIR210HG,NLRP6,ODF3,PHRF1,PKP3,PSMD13,PTDSS2,RASSF7,RIC8A,RNH1,SCGB1C1,SIGIRR,SIRT3 MS19746,MS26120 esv2470450 11 183869 184801 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264548 S 1 1 0 SCGB1C1 NA18507 esv2201672 11 185733 186223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750037 S 1 0 1 "" NA18507 esv8187 11 186116 186573 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30628 S 1 0 1 "" SJK esv1091435 11 186125 186125 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134649 S 2 1 0 "" HuRef nsv467630 11 188510 214832 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542854 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BET1L,ODF3,RIC8A,SIRT3 HGDP01365 nsv522596 11 188510 238181 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705986 S 2026 1 0 BET1L,ODF3,PSMD13,RIC8A,SIRT3 nsv467631 11 188510 264780 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542855 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BET1L,ODF3,PSMD13,RIC8A,SIRT3 HGDP01371 nsv896439 11 189256 223067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573358 S 6533 0 1 BET1L,ODF3,RIC8A,SIRT3 IS33330 nsv896440 11 194062 290364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563610 S 6533 1 0 ATHL1,BET1L,IFITM5,NLRP6,PSMD13,RIC8A,SIRT3 MS26123 nsv896441 11 201482 239097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537119 S 6533 0 1 PSMD13,RIC8A,SIRT3 MS13095 esv32593 11 208394 275937 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101138,essv94404,essv97845,essv95606,essv95245,essv101700,essv95922,essv94498,essv98941,essv97229,essv96048,essv99710,essv100135 M 51 0 13 NLRP6,PSMD13,SIRT3 21618,21808,21837,21841,21872,21909,21911,21932,21938,22075,22127,22217,22286 dgv912n71 11 209089 242318 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896446,nsv896443,nsv896444,nsv896442 M 6533 4 0 PSMD13,SIRT3 IS38515,MS11556,MS11741,MS21036 nsv469921 11 209089 266012 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546001 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSMD13,SIRT3 HGDP01371 esv1679398 11 210950 211101 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846830 S 2 0 1 SIRT3 HuRef esv2413108 11 213721 214144 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876662 S 1 0 1 SIRT3 NA18507 esv1104397 11 213831 213975 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115028 S 2 0 1 SIRT3 HuRef esv989341 11 213939 214010 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572488 S 3 0 1 SIRT3 HuRef esv1251555 11 213996 214068 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273785 S 2 0 1 SIRT3 HuRef nsv7632 11 214495 246679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6429 S 9 1 0 PSMD13,SIRT3 NA12156 nsv896445 11 214832 237972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509983 S 6533 0 1 PSMD13,SIRT3 SP54956 nsv896447 11 223067 316564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573866 S 6533 0 1 ATHL1,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6,PSMD13,SIRT3 IS33504 nsv896449 11 226871 239097 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563057 S 6533 1 0 PSMD13 MS25839 nsv527533 11 234106 238016 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703993 S 2026 1 0 PSMD13 nsv516439 11 234141 238181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691619,nssv680663,nssv668418 M 2026 0 3 PSMD13 dgv913n71 11 247030 298180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896453,nsv896450 M 6533 0 6 ATHL1,IFITM2,IFITM5,NLRP6 IS32841,IS33178,IS33239,IS33248,IS39258,IS41410 dgv914n71 11 247030 335515 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896451,nsv896452,nsv896458 M 6533 0 3 ATHL1,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6 IS33684,IS37646,IS39233 nsv39512 11 247859 247908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58090 M 24 "" dgv915n71 11 263153 325017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896457,nsv896454,nsv896462,nsv896455,nsv896456 M 6533 0 8 ATHL1,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6 IS32737,IS40396,IS40502,MS16153,MS18276,SP54043,SP54956,SP54967 nsv7212 11 264155 345146 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5333,nssv1916,nssv977,nssv5332 M 9 0 0 ATHL1,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6 NA18555,NA19129,NA19240 dgv916n71 11 266012 606865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896459,nsv896466 M 6533 0 2 ANO9,ATHL1,B4GALNT4,C11orf35,CDHR5,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,NLRP6,PHRF1,PKP3,PTDSS2,RASSF7,RNH1,SIGIRR MS10311,MS17208 nsv482153 11 268570 275303 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558514 S 1 1 0 NLRP6 KB1 dgv186n67 11 270568 271471 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825674,nsv825673 M 31 2 0 NLRP6 AK4,NA18582 dgv917n71 11 273928 309882 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896465,nsv896460,nsv896464,nsv896461 M 6533 0 4 ATHL1,IFITM1,IFITM2,IFITM3,IFITM5,NLRP6 IS34005,SP54725,SP54988,SP55021 nsv896463 11 277782 425424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573320 S 6533 1 0 ANO9,ATHL1,B4GALNT4,IFITM1,IFITM2,IFITM3,IFITM5,PKP3,SIGIRR IS33263 nsv516809 11 280233 285876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679350,nssv671076,nssv657377 M 2026 0 3 ATHL1 esv989344 11 281680 282918 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587028 S 3 1 0 ATHL1 HuRef nsv527327 11 285343 610599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703752 S 2026 0 1 ANO9,ATHL1,B4GALNT4,C11orf35,CDHR5,HRAS,IFITM1,IFITM2,IFITM3,IFITM5,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PKP3,PTDSS2,RASSF7,RNH1,SIGIRR nsv436656 11 299743 307260 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466625 S 2 0 0 Samples from several populations that are part of the HapMap project. IFITM1 NA18505 nsv513687 11 300047 307793 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626939 S 1 0 0 IFITM1 1 nsv499425 11 300224 308984 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585494 S 9 0 0 IFITM1 esv2450457 11 301565 309249 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250390 S 1 0 0 IFITM1 NA18507 nsv435976 11 302980 309809 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466626 S 2 0 0 IFITM1,IFITM3 NA15510 nsv513688 11 303185 308821 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626940 S 1 0 0 IFITM1 1 nsv820958 11 310970 312645 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420917 S 1 0 1 "" NA10851 esv24310 11 311355 315773 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14127,esv18509 M 451 25 0 "" NA06985,NA07037,NA11993,NA11995,NA12156,NA12287,NA12489,NA12749,NA12776,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv26286 11 315828 316678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13961 S 451 0 9 "" NA12287,NA18502,NA18505,NA18858,NA18916,NA19108,NA19147,NA19225,NA19240 esv1939286 11 316150 316657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542286 S 1 0 1 "" NA18507 esv1623433 11 316337 316337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160410 S 2 1 0 "" HuRef nsv39344 11 316401 316467 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57922 M 24 "" dgv918n71 11 336015 554295 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896467,nsv896472,nsv896474,nsv896482,nsv896473 M 6533 0 5 ANO9,B4GALNT4,C11orf35,HRAS,LRRC56,PKP3,PTDSS2,RASSF7,RNH1,SIGIRR IS30369,IS33504,IS34235,IS39233,MS18276 esv4045 11 339540 340163 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26486 S 1 0 1 Single Asian sample YH "" YH dgv919n71 11 340917 457339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896470,nsv896471,nsv896481,nsv896480,nsv896469,nsv896468 M 6533 0 9 ANO9,B4GALNT4,PKP3,PTDSS2,SIGIRR IS32841,IS33239,IS39417,IS40297,IS40396,MS10769,MS16315,SP54988,SP55021 dgv920n71 11 340917 637869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896490,nsv896493,nsv896483,nsv896476,nsv896505,nsv896533,nsv896529,nsv896526,nsv896489,nsv896510,nsv896477,nsv896484,nsv896475 M 6533 0 15 ANO9,B4GALNT4,C11orf35,CDHR5,DEAF1,DRD4,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PKP3,PTDSS2,RASSF7,RNH1,SCT,SIGIRR IS32737,IS33178,IS33248,IS33684,IS34304,IS35484,IS37172,IS37646,IS38538,IS40230,MS10698,MS13095,MS13727,MS19630,SP54956 dgv921n71 11 340917 924594 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896479,nsv896487,nsv896478 M 6533 0 3 ANO9,AP2A2,B4GALNT4,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 IS32322,IS38176,MS16153 dgv922n71 11 343757 705420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896506,nsv896486,nsv896511,nsv896485 M 6533 0 4 ANO9,B4GALNT4,C11orf35,CDHR5,DEAF1,DRD4,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PKP3,PTDSS2,RASSF7,RNH1,SCT,SIGIRR,TMEM80 IS33601,IS37985,IS38293,IS41634 esv2614541 11 344996 345046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270679 S 1 0 1 "" NA18507 nsv896488 11 346090 401185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501191 S 6533 0 1 B4GALNT4,PKP3,SIGIRR SP51109 esv8199 11 347076 347370 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30640 S 1 0 1 "" SJK esv2274697 11 347783 348210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527786 S 1 0 1 "" NA18507 nsv896491 11 348027 368188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505362,nssv1519241 M 6533 0 2 B4GALNT4 SP53440,SP80988 esv2123862 11 349599 350006 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977338 S 1 0 1 "" NA18507 dgv923n71 11 352668 401185 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896498,nsv896494,nsv896492,nsv896496,nsv896497 M 6533 0 5 B4GALNT4,PKP3,SIGIRR SP54591,SP54750,SP54937,SP55019,SP56223 esv2378418 11 352989 353516 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832506 S 1 0 1 "" NA18507 esv27449 11 353050 353945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21419 S 451 0 11 "" NA11995,NA12006,NA12044,NA12878,NA18505,NA18508,NA18523,NA18916,NA19147,NA19240,NA19257 esv28392 11 353975 393432 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13746,esv11112,esv19005,esv20765 M 451 21 5 B4GALNT4,PKP3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12776,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19147,NA19190,NA19240,NA19257 dgv924n71 11 355636 457339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896513,nsv896495,nsv896501,nsv896509,nsv896499,nsv896504,nsv896503,nsv896500 M 6533 0 11 ANO9,B4GALNT4,PKP3,PTDSS2,SIGIRR IS30835,IS31082,IS40502,MS10126,MS13770,MS15835,MS17825,SP54672,SP54684,SP54725,SP57469 nsv467633 11 356710 422436 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542856 S 1557 0 1 ANO9,B4GALNT4,PKP3,SIGIRR 1780862300_A nsv896502 11 356710 472838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576433 S 6533 0 1 ANO9,B4GALNT4,PKP3,PTDSS2,SIGIRR IS34057 nsv825676 11 356965 362662 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428755 S 31 1 0 B4GALNT4 NA18947 nsv469923 11 368188 1280140 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546014,nssv546005,nssv546025,nssv546013,nssv546022,nssv546006,nssv546016,nssv546019,nssv546012,nssv546017,nssv546021,nssv546003,nssv546018,nssv546004,nssv546010,nssv546007,nssv546023,nssv546024,nssv546011,nssv546026,nssv546008,nssv546002,nssv546015 M 443 0 16 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANO9,AP2A2,B4GALNT4,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,MUC2,MUC5B,MUC6,PDDC1,PHRF1,PIDD,PKP3,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TOLLIP,TSPAN4 HGDP00288,HGDP00298,HGDP00302,HGDP00313,HGDP00323,HGDP00543,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00825,HGDP00881,HGDP00882,HGDP00978 esv990569 11 371328 371519 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582614 S 3 0 1 B4GALNT4 HuRef esv1612736 11 371388 371580 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791259 S 2 0 1 B4GALNT4 HuRef esv1004745 11 374837 375507 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565153 S 3 0 1 "" HuRef nsv513304 11 374853 375833 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625690 S 1 1 0 "" 1 esv1002599 11 374918 375658 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586255 S 3 1 0 "" HuRef dgv925n71 11 375442 434628 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896508,nsv896507 M 6533 0 12 ANO9,PKP3,SIGIRR IS31045,IS33665,IS34407,IS34908,IS35726,IS38403,IS38688,IS39473,IS40368,MS10386,MS11579,MS12262 dgv926n71 11 376428 401185 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896515,nsv896512 M 6533 0 2 PKP3,SIGIRR SP50159,SP81010 esv2242687 11 380422 381014 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649798 S 1 0 1 "" NA18507 esv7721 11 380493 380960 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30162 S 1 0 1 "" SJK nsv896514 11 382079 444363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581014 S 6533 1 0 ANO9,PKP3,PTDSS2,SIGIRR IS35487 nsv39515 11 388086 388199 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58093 M 24 PKP3 esv1656697 11 388391 388507 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639108 S 2 0 1 PKP3 HuRef nsv896516 11 388542 401185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517488 S 6533 0 1 PKP3,SIGIRR SP57292 nsv896517 11 388542 412556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506010 S 6533 0 1 ANO9,PKP3,SIGIRR SP54043 nsv896518 11 388542 419659 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582207,nssv1534731 M 6533 1 1 ANO9,PKP3,SIGIRR IS35846,MS11726 dgv927n71 11 388542 444363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896527,nsv896519,nsv896536 M 6533 0 5 ANO9,PKP3,PTDSS2,SIGIRR IS34005,IS35717,IS38239,IS39718,IS41317 dgv928n71 11 388542 444363 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv896520,nsv896537,nsv896535,nsv896531 M 6533 19 22 ANO9,PKP3,PTDSS2,SIGIRR IS30330,IS30553,IS30781,IS30967,IS31117,IS31371,IS31768,IS32888,IS32990,IS33475,IS33669,IS33878,IS33975,IS34051,IS34124,IS34443,IS34523,IS34686,IS34895,IS35072,IS35102,IS35331,IS37065,IS38011,IS38081,IS38161,IS39254,IS39627,IS40067,IS40795,IS40819,IS41870,MS10580,MS11237,MS11467,MS12545,MS15749,MS15997,MS17114,MS17522,MS25498 dgv929n71 11 388542 457339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896521,nsv896538 M 6533 0 2 ANO9,PKP3,PTDSS2,SIGIRR MS10123,MS21249 dgv930n71 11 388542 492013 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896528,nsv896522,nsv896523 M 6533 0 4 ANO9,PKP3,PTDSS2,RNH1,SIGIRR IS31656,IS39258,IS41410,MS11669 dgv931n71 11 388542 575265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896524,nsv896525,nsv896539 M 6533 0 4 ANO9,C11orf35,HRAS,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PKP3,PTDSS2,RASSF7,RNH1,SIGIRR IS33797,IS39363,IS41243,MS11306 nsv896530 11 396483 434628 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580580,nssv1591483,nssv1597885 M 6533 2 1 ANO9,SIGIRR IS35380,IS38846,IS41193 nsv896532 11 396483 575265 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589925 S 6533 1 0 ANO9,C11orf35,HRAS,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PTDSS2,RASSF7,RNH1,SIGIRR IS38430 nsv896534 11 399815 434628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583830 S 6533 1 0 ANO9,SIGIRR IS36667 essv23843 11 399846 1051564 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANO9,AP2A2,C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,MUC6,PDDC1,PHRF1,PIDD,PNPLA2,POLR2L,PTDSS2,RASSF7,RNH1,RPLP2,SCT,SIGIRR,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 NA07022 esv27645 11 400458 402783 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17495 S 451 4 8 SIGIRR NA11995,NA12004,NA12156,NA12489,NA12776,NA12878,NA18502,NA18508,NA18517,NA18916,NA19114,NA19190 esv1960258 11 411342 411708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585439 S 1 0 1 ANO9 NA18507 esv3908 11 411355 411746 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26349 S 1 0 1 Single Asian sample YH ANO9 YH esv1003820 11 411497 411636 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578146 S 3 0 1 ANO9 HuRef esv1030132 11 411519 411659 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774217 S 2 0 1 ANO9 HuRef nsv825677 11 411724 418125 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435299 S 31 0 1 ANO9 NA18942 esv2476569 11 414355 415930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367660 S 1 0 1 ANO9 NA18507 esv3176 11 414983 415397 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25617 S 1 0 1 Single Asian sample YH ANO9 YH esv270933 11 417992 418329 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514539,essv2516765,essv2519322,essv2518830,essv2514802,essv2515470,essv2518455,essv2514974,essv2516470,essv2515544,essv2517938,essv2515900,essv2514435,essv2517704,essv2517249,essv2519067,essv2513904,essv2513602 M 157 18 0 Samples from several populations that are part of the HapMap project. ANO9 NA07347,NA11840,NA11881,NA11894,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18970,NA19141,NA19143 esv273658 11 417992 418329 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581336 S 7 1 0 Samples from several populations that are part of the HapMap project. ANO9 NA12878 nsv8754 11 418832 423899 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23217 S 31 1 0 Samples from several populations that are part of the HapMap project. ANO9 NA18860 esv32925 11 419474 422036 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97142 S 51 1 0 ANO9 22075 esv29363 11 420660 421765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13672 S 451 0 3 ANO9 NA12239,NA18517,NA18858 esv1246287 11 449117 449117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679998 S 2 1 0 PTDSS2 HuRef esv987972 11 459308 459415 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580236 S 3 0 1 PTDSS2 HuRef nsv39748 11 473299 473466 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58326 M 24 PTDSS2 dgv932n71 11 474204 486116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896540,nsv896541 M 6533 0 2 PTDSS2,RNH1 SP54684,SP54725 dgv933n71 11 474204 575265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896543,nsv896542 M 6533 0 2 C11orf35,HRAS,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,PTDSS2,RASSF7,RNH1 IS33455,SP54988 esv993746 11 475747 475890 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584878 S 3 0 1 PTDSS2 HuRef esv2259869 11 481506 482073 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682617 S 1 0 1 "" NA18507 nsv39230 11 481643 481643 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57808 M 24 "" nsv825678 11 498005 499374 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436882 S 31 1 0 "" NA18542 nsv467634 11 501805 609789 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542857 S 1557 0 1 C11orf35,CDHR5,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7 1780862487_A esv22565 11 509226 510281 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12496 S 451 0 10 "" NA11931,NA12004,NA12287,NA12776,NA12878,NA18523,NA18916,NA19114,NA19129,NA19240 esv1039189 11 510088 510319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3868404 S 2 0 1 "" HuRef nsv896544 11 511302 626399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532450 S 6533 0 1 C11orf35,CDHR5,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7,SCT MS10769 nsv896545 11 511302 700558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571905 S 6533 0 1 C11orf35,CDHR5,DEAF1,DRD4,EPS8L2,HRAS,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7,SCT,TMEM80 IS32841 dgv934n71 11 516326 575265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896546,nsv896547 M 6533 0 5 C11orf35,HRAS,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7 SP54672,SP54725,SP55021,SP56047,SP57469 esv33673 11 518525 520251 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93322 S 51 1 0 "" 22170 esv28720 11 520383 521133 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14384 S 451 2 0 "" NA18858,NA19147 nsv896548 11 522923 549313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514284 S 6533 0 1 C11orf35,HRAS,LRRC56 SP55992 dgv935n71 11 531930 652407 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896550,nsv896549,nsv896561 M 6533 0 5 C11orf35,CDHR5,DEAF1,DRD4,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7,SCT IS35007,IS38403,IS39233,MS10386,MS18276 nsv469924 11 539119 599887 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546027 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C11orf35,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7 HGDP00714 dgv936n71 11 541405 878632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896551,nsv896563 M 6533 0 3 C11orf35,CD151,CDHR5,CEND1,CHID1,DEAF1,DRD4,EFCAB4A,EPS8L2,IRF7,LOC143666,LRRC56,MIR210,MIR210HG,PDDC1,PHRF1,PIDD,PNPLA2,POLR2L,RASSF7,RPLP2,SCT,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 IS31656,IS34235,IS39258 dgv937n71 11 541881 557630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896552,nsv896553 M 6533 0 2 C11orf35,LRRC56,MIR210HG,RASSF7 SP54042,SP54591 dgv938n71 11 541881 563554 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896557,nsv896554,nsv896555 M 6533 0 6 C11orf35,LRRC56,MIR210,MIR210HG,RASSF7 SP50159,SP54593,SP54684,SP54750,SP54937,SP54967 dgv939n71 11 544798 575265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896558,nsv896556 M 6533 0 3 C11orf35,LOC143666,LRRC56,MIR210,MIR210HG,PHRF1,RASSF7 SP51109,SP54043,SP55019 nsv467635 11 547342 646845 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542858 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C11orf35,CDHR5,DEAF1,DRD4,IRF7,LOC143666,MIR210,MIR210HG,PHRF1,RASSF7,SCT HGDP00445 nsv528415 11 548884 610599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705007 S 2026 0 1 C11orf35,CDHR5,IRF7,LOC143666,MIR210,MIR210HG,PHRF1,RASSF7 nsv896559 11 549313 557630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508215 S 6533 0 1 C11orf35,MIR210HG,RASSF7 SP54657 nsv518824 11 554295 595856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696276 S 2026 0 1 LOC143666,MIR210,MIR210HG,PHRF1 nsv896560 11 554295 626399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546766 S 6533 0 1 CDHR5,IRF7,LOC143666,MIR210,MIR210HG,PHRF1,SCT MS17208 nsv7633 11 573216 585582 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2854,nssv3911 M 9 2 0 PHRF1 NA12878,NA18555 esv24854 11 575072 575663 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9789 S 451 0 3 PHRF1 NA18909,NA19114,NA19240 esv1008801 11 575486 577047 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565214 S 3 1 0 PHRF1 HuRef esv1760409 11 575658 575658 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993992 S 2 1 0 PHRF1 HuRef nsv825679 11 577825 582477 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435300 S 31 0 1 PHRF1 NA18942 dgv940n71 11 579564 652407 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896564,nsv896565,nsv896562 M 6533 0 3 CDHR5,DEAF1,DRD4,IRF7,PHRF1,SCT IS32737,IS40230,SP54956 esv1387942 11 580039 580039 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978501 S 2 1 0 PHRF1 HuRef nsv825680 11 584633 585343 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437642 S 31 1 0 PHRF1 NA18949 nsv825681 11 594342 594995 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421980 S 31 1 0 PHRF1 NA18997 dgv941n71 11 597050 646523 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896566,nsv896568,nsv896567 M 6533 0 3 CDHR5,DEAF1,DRD4,IRF7,PHRF1,SCT SP54725,SP54988,SP55021 nsv896569 11 600277 620124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507792 S 6533 0 1 CDHR5,IRF7,PHRF1,SCT SP54672 nsv896570 11 610599 705420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574798 S 6533 0 1 CDHR5,DEAF1,DRD4,EPS8L2,SCT,TMEM80 IS33630 dgv942n71 11 610927 637869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896572,nsv896571 M 6533 0 2 CDHR5,DEAF1,DRD4,SCT SP54967,SP81010 nsv832043 11 621027 748602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448930,nssv1448931,nssv1448929 M 95 0 3 DEAF1,DRD4,EPS8L2,TALDO1,TMEM80 esv3356 11 625794 626181 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25797 S 1 0 1 Single Asian sample YH "" YH esv1607430 11 632846 632846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270666 S 2 1 0 "" HuRef esv2059951 11 637716 638170 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802526 S 1 0 1 DEAF1 NA18507 esv1332182 11 637904 638009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053224 S 2 0 1 DEAF1 HuRef esv1304503 11 655063 655191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060746 S 2 0 1 DEAF1 HuRef esv988150 11 655118 655183 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570325 S 3 0 1 DEAF1 HuRef esv2412904 11 666155 666552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792523 S 1 0 1 DEAF1 NA18507 nsv512198 11 666286 668291 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624765 S 1 0 1 DEAF1 1 esv2544843 11 666904 668528 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343797 S 1 0 1 DEAF1 NA18507 esv2320149 11 667126 667899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698797 S 1 0 1 DEAF1 NA18507 nsv896573 11 678312 692097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511447 S 6533 0 1 DEAF1,TMEM80 SP55021 dgv943n71 11 678312 764982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896580,nsv896574 M 6533 0 2 DEAF1,EPS8L2,PDDC1,TALDO1,TMEM80 IS33684,SP54956 dgv944n71 11 678312 878632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896577,nsv896576,nsv896575 M 6533 0 3 CD151,CEND1,CHID1,DEAF1,EFCAB4A,EPS8L2,PDDC1,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TALDO1,TMEM80,TSPAN4 IS37646,IS39233,IS39363 nsv896578 11 684257 699861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506012 S 6533 0 1 DEAF1,EPS8L2,TMEM80 SP54043 nsv896579 11 684257 719570 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508612 S 6533 0 1 DEAF1,EPS8L2,TMEM80 SP54725 esv1638671 11 686761 686761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668153 S 2 1 0 TMEM80 HuRef nsv522733 11 692250 742059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698367 S 2026 0 1 EPS8L2,TALDO1,TMEM80 nsv896581 11 700558 719570 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510829 S 6533 0 1 EPS8L2 SP54988 dgv945n71 11 706765 888518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896589,nsv896584,nsv896591,nsv896592,nsv896585,nsv896582 M 6533 0 8 CD151,CEND1,CHID1,EFCAB4A,EPS8L2,PDDC1,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TALDO1,TSPAN4 IS30369,IS33248,IS34304,IS40230,IS41243,MS10386,MS13770,MS16315 esv1298114 11 710980 710980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006957 S 2 1 0 EPS8L2 HuRef nsv8755 11 712390 714601 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21643 S 31 1 0 Samples from several populations that are part of the HapMap project. EPS8L2 NA18504 esv33757 11 713475 717720 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93594 S 51 1 0 EPS8L2 21972 nsv8756 11 723363 736926 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22467 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv512199 11 724583 726476 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624767 S 1 0 1 "" 1 esv2640550 11 724700 726769 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234721 S 1 0 1 "" NA18507 esv26000 11 724804 726599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14531 S 451 0 5 "" NA12044,NA12156,NA18916,NA19240,NA19257 esv1004794 11 724937 724990 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570407 S 3 0 1 "" HuRef esv1030470 11 724983 725090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334692 S 2 0 1 "" HuRef esv1353117 11 725176 725871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703892 S 2 0 1 "" HuRef nsv39252 11 725444 725764 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57830 M 24 "" esv996473 11 726044 726097 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583696 S 3 0 1 "" HuRef nsv896583 11 726300 800882 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572043 S 6533 1 0 CEND1,PDDC1,PIDD,RPLP2,SLC25A22,TALDO1 IS32843 dgv946n71 11 726300 924594 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896586,nsv896595,nsv896593,nsv896590,nsv896588 M 6533 0 6 AP2A2,CD151,CEND1,CHID1,EFCAB4A,PDDC1,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TALDO1,TSPAN4 IS32888,IS33178,IS33601,IS35484,MS10311,MS18276 esv2529615 11 729576 735434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386065 S 1 0 1 "" NA18507 esv29664 11 731240 734515 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20136 S 451 0 2 "" NA18508,NA18909 esv33310 11 732745 734077 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96033 S 51 0 1 "" 22127 nsv517091 11 733813 734185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657770,nssv678721,nssv671221,nssv689913,nssv684346,nssv688924,nssv676142,nssv690387,nssv685553,nssv661399,nssv669495,nssv654664,nssv653771 M 2026 0 13 "" nsv896587 11 734185 818916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571906 S 6533 0 1 CEND1,EFCAB4A,PDDC1,PIDD,PNPLA2,RPLP2,SLC25A22,SNORA52,TALDO1 IS32841 nsv825682 11 747438 749019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421981 S 31 1 0 TALDO1 NA18997 nsv8758 11 754327 762031 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22497 S 31 1 0 Samples from several populations that are part of the HapMap project. PDDC1,TALDO1 NA19132 esv32621 11 755283 756514 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98964 S 51 1 0 "" 21938 esv990408 11 762175 762258 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585694 S 3 0 1 PDDC1 HuRef esv1306344 11 762176 762260 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635856 S 2 0 1 PDDC1 HuRef essv11734 11 764447 1051564 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AP2A2,CD151,CEND1,CHID1,EFCAB4A,MUC6,PDDC1,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TSPAN4 NA18504 nsv8759 11 765539 825248 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24801 S 31 1 0 Samples from several populations that are part of the HapMap project. CD151,CEND1,EFCAB4A,PDDC1,PIDD,PNPLA2,RPLP2,SLC25A22,SNORA52 NA19221 esv2314422 11 769753 770197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698519 S 1 0 1 "" NA18507 dgv947n71 11 776234 833713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896598,nsv896594 M 6533 0 2 CD151,CEND1,EFCAB4A,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TSPAN4 SP54725,SP55021 dgv948n71 11 778007 801648 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896597,nsv896596 M 6533 0 2 CEND1,PIDD,RPLP2,SLC25A22 SP54684,SP54988 nsv896599 11 778357 894258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509988 S 6533 0 1 CD151,CEND1,CHID1,EFCAB4A,PIDD,PNPLA2,POLR2L,RPLP2,SLC25A22,SNORA52,TSPAN4 SP54956 nsv896600 11 794715 815508 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518365 S 6533 1 0 PIDD,PNPLA2,RPLP2,SNORA52 SP57507 nsv832044 11 799019 928308 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448945,nssv1448935,nssv1448940,nssv1448934,nssv1448933,nssv1448932,nssv1448943,nssv1448938,nssv1448936,nssv1448937,nssv1448944,nssv1448942,nssv1448941 M 95 0 13 AP2A2,CD151,CHID1,EFCAB4A,PNPLA2,POLR2L,RPLP2,SNORA52,TSPAN4 nsv896601 11 807786 816970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519242 S 6533 0 1 PNPLA2 SP80988 dgv949n71 11 807786 829629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896607,nsv896606,nsv896603 M 6533 0 3 CD151,EFCAB4A,PNPLA2 SP54593,SP54672,SP55019 dgv950n71 11 807786 830023 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896604,nsv896602 M 6533 2 0 CD151,EFCAB4A,PNPLA2,POLR2L SP52077,SP54650 dgv951n71 11 810754 826767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896605,nsv896610,nsv896609 M 6533 0 3 CD151,EFCAB4A,PNPLA2 SP54043,SP54684,SP54937 nsv896608 11 810754 848424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510831 S 6533 0 1 CD151,EFCAB4A,PNPLA2,POLR2L,TSPAN4 SP54988 dgv952n71 11 816970 830202 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896611,nsv896614,nsv896616,nsv896617,nsv896624 M 6533 0 5 CD151,EFCAB4A,POLR2L SP50159,SP51109,SP54657,SP54782,SP54967 nsv482154 11 817585 821991 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558515 S 1 1 0 EFCAB4A KB1 nsv896612 11 817993 821779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511742 S 6533 0 1 EFCAB4A SP55056 dgv953n71 11 817993 829532 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896623,nsv896613,nsv896615 M 6533 3 0 CD151,EFCAB4A SP54620,SP54792,SP56267 dgv954n71 11 817993 835789 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896618,nsv896621,nsv896622,nsv896625 M 6533 6 0 CD151,EFCAB4A,POLR2L,TSPAN4 SP54381,SP54448,SP54614,SP55878,SP56143,SP56260 nsv896619 11 817993 842465 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507477 S 6533 1 0 CD151,EFCAB4A,POLR2L,TSPAN4 SP54579 nsv896620 11 818916 824745 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499976,nssv1519341 M 6533 1 1 CD151,EFCAB4A SP50179,SP81010 dgv955n71 11 820817 830142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896629,nsv896627,nsv896628,nsv896626 M 6533 0 5 CD151,EFCAB4A,POLR2L SP56007,SP56874,SP57027,SP57292,SP57553 nsv896630 11 823668 830142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503477 S 6533 0 1 CD151,POLR2L SP52060 esv1212776 11 823811 823811 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184108 S 2 1 0 CD151 HuRef nsv896631 11 828842 830023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500633,nssv1499375 M 6533 0 2 POLR2L SP50043,SP50046 nsv896632 11 830477 832775 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508646 S 6533 1 0 POLR2L SP54650 nsv896633 11 830477 833461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510526 S 6533 0 1 POLR2L,TSPAN4 SP54967 dgv956n71 11 830740 846992 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896634,nsv896637,nsv896635 M 6533 0 5 POLR2L,TSPAN4 SP54043,SP54593,SP54672,SP54725,SP55056 nsv8760 11 830951 842059 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21673,nssv19695 M 31 0 2 Samples from several populations that are part of the HapMap project. POLR2L,TSPAN4 NA18504,NA18537 nsv896636 11 831023 890003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509343 S 6533 0 1 CHID1,POLR2L,TSPAN4 SP54782 nsv896638 11 832775 863440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515859 S 6533 1 0 CHID1,TSPAN4 SP56294 esv29561 11 848239 849589 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16642 S 451 0 1 TSPAN4 NA18858 esv32950 11 867601 872764 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97108 S 51 1 0 CHID1 22075 esv1667682 11 867814 867814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772110 S 2 1 0 CHID1 HuRef dgv332e1 11 872364 1051564 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20416,essv24468,essv8856,essv681,essv10567,essv1881,essv16114,essv272,essv14551,essv9413,essv11213,essv20255,essv15409,essv7043,essv7787,essv22885,essv24248,essv3467,essv8305,essv3864,essv22758,essv1274,essv16531,essv10739,essv1769,essv7212,essv22047,essv22130,essv8741,essv19614,essv4659,essv15261,essv10018,essv23208,essv7088,essv12158,essv7616,essv6655,essv4559,essv21005,essv9717,essv7867,essv17098,essv9197,essv15148,essv10868,essv24755,essv15798,essv15558,essv3055,essv4417,essv18390,essv14192,essv12798,essv16731,essv4137,essv11082,essv6041,essv17622,essv22956,essv8605,essv21979,essv9938,essv112,essv5022,essv20131,essv21736,essv1007,essv8917,essv23974,essv14447,essv20067,essv14323,essv22682,essv24040,essv23374,essv11515,essv6234,essv4971,essv13099,essv20957,essv17672,essv9330,essv858,essv804,essv13843,essv1926,essv13461,essv20158,essv22487,essv10651,essv7720,essv6644,essv19235,essv24366,essv6355,essv11444,essv8350,essv19914,essv25005,essv24559,essv23497,essv14112,essv15352,essv18155,essv21121,essv9829,essv23821,essv19573,essv19161,essv5137,essv24733,essv15012,essv17116,essv5411,essv18338,essv16760,essv11045,essv15682,essv21544,essv17812,essv12763,essv17973,essv2345,essv20627,essv1449,essv18265,essv6819,essv16856,essv21314,essv21443,essv23118,essv253,essv20661,essv24126,essv21779,essv13539,essv1196,essv12674,essv16231,essv488,essv11673,essv18932,essv1486,essv4488,essv15999,essv2164,essv17737,essv3764,essv23627,essv1099,essv3544,essv20335,essv2244,essv2635,essv15489,essv19763,essv3132,essv22241,essv4807,essv4019,essv390,essv10272 M 271 0 0 AP2A2,CHID1,MUC6 NA06991,NA07019,NA07034,NA07048,NA07056,NA07345,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10856,NA10857,NA10859,NA10860,NA11829,NA11832,NA11881,NA11882,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12044,NA12056,NA12144,NA12154,NA12155,NA12156,NA12236,NA12239,NA12248,NA12249,NA12707,NA12716,NA12717,NA12750,NA12752,NA12753,NA12760,NA12763,NA12801,NA12813,NA12815,NA12864,NA12865,NA12872,NA12873,NA12878,NA12891,NA12892,NA18500,NA18501,NA18505,NA18506,NA18508,NA18523,NA18524,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18563,NA18564,NA18571,NA18573,NA18576,NA18579,NA18594,NA18608,NA18609,NA18612,NA18620,NA18621,NA18633,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18944,NA18948,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18973,NA18975,NA18976,NA18978,NA18980,NA18981,NA18992,NA18994,NA18995,NA18997,NA19000,NA19005,NA19092,NA19094,NA19099,NA19100,NA19101,NA19103,NA19120,NA19128,NA19129,NA19131,NA19137,NA19140,NA19142,NA19143,NA19145,NA19154,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19208,NA19210,NA19211,NA19239,NA19240 nsv428244 11 872364 1051595 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452011,nssv452010,nssv452007,nssv452009,nssv452014,nssv452013,nssv452012 M 62 0 7 AP2A2,CHID1,MUC6 HGDP00449,HGDP00462,HGDP00463,HGDP00986,NA18498,NA19147,NA19225 essv22587 11 872364 1313968 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AP2A2,CHID1,LOC255512,MUC2,MUC5B,MUC6,TOLLIP NA07348 nsv896639 11 878632 892035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514285 S 6533 0 1 CHID1 SP55992 esv32976 11 911843 914353 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93887 S 51 0 1 "" 21634 nsv896640 11 936070 1005445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529846 S 6533 0 1 AP2A2,MUC6 MS10123 nsv7635 11 944928 948292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10788 S 9 1 0 AP2A2 NA18956 nsv7636 11 950197 971120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5334,nssv6430 M 9 2 0 AP2A2 NA12156,NA19129 esv989476 11 954361 954816 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565177 S 3 1 0 AP2A2 HuRef esv23883 11 954758 955226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20798 S 451 0 1 AP2A2 NA12776 dgv957n71 11 955037 1034938 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896642,nsv896641 M 6533 0 3 AP2A2,MUC6 IS32841,MS10311,MS10769 nsv896643 11 955037 1107281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543593 S 6533 0 1 AP2A2,MUC2,MUC6 MS16153 nsv896644 11 955037 1292320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549809 S 6533 0 1 AP2A2,LOC255512,MUC2,MUC5B,MUC6,TOLLIP MS18276 nsv832045 11 959785 1119167 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448958,nssv1448964,nssv1448946,nssv1448959,nssv1448960,nssv1448963,nssv1448948,nssv1448952,nssv1448949,nssv1448947,nssv1448951,nssv1448954,nssv1448957,nssv1448953,nssv1448956,nssv1448955 M 95 1 15 AP2A2,MUC2,MUC6 esv26977 11 965177 965832 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20584 S 451 0 3 AP2A2 NA19108,NA19240,NA19257 nsv821153 11 965177 965832 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420918 S 1 1 0 AP2A2 NA10851 nsv8761 11 969333 973986 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21703,nssv19725,nssv20109,nssv19653,nssv22244,nssv17680,nssv18692 M 31 7 0 Samples from several populations that are part of the HapMap project. AP2A2 NA07029,NA07048,NA12740,NA12802,NA18504,NA18517,NA18537 nsv513305 11 969624 970787 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625691 S 1 1 0 AP2A2 1 dgv958n71 11 973966 1050934 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896646,nsv896645,nsv896647 M 6533 0 3 AP2A2,MUC6 IS32737,IS34235,SP54988 nsv513306 11 984354 985788 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625692 S 1 1 0 AP2A2 1 nsv7637 11 986222 1019656 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9937,nssv10789,nssv11246,nssv978,nssv3913,nssv6431,nssv1917,nssv5335 M 9 8 0 AP2A2,MUC6 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv825683 11 988362 1000915 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435301 S 31 0 1 AP2A2 NA18942 nsv482155 11 1002824 1026706 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558516 S 1 1 0 MUC6 KB1 esv988598 11 1003383 1008560 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563812 S 3 1 0 MUC6 HuRef nsv511474 11 1005021 1008638 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626090 S 1 0 1 MUC6 1 nsv59 11 1005059 1015203 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv59 S 1 1 0 MUC6 NA15510 esv23591 11 1005774 1009739 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20540,esv17994 M 451 0 15 MUC6 NA07037,NA07045,NA11931,NA12006,NA12239,NA12749,NA12776,NA18502,NA18505,NA18511,NA18858,NA18907,NA19108,NA19225,NA19257 nsv825684 11 1005774 1009739 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430789,nssv1430022,nssv1428767,nssv1439106,nssv1423626,nssv1421982,nssv1438328,nssv1428119,nssv1433859,nssv1431518,nssv1440538,nssv1439864,nssv1437643,nssv1434840,nssv1441325,nssv1435302,nssv1433047,nssv1429276,nssv1428319,nssv1425996,nssv1436883,nssv1422805,nssv1436050,nssv1426916,nssv1428512,nssv1434601,nssv1427697 M 31 27 0 MUC6 AK10,AK12,AK14,AK16,AK18,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820593 11 1006254 1009154 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420919 S 1 1 0 MUC6 NA10851 dgv187n67 11 1006437 1008588 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825687,nsv825685 M 31 2 0 MUC6 AK20,NA18582 dgv10n47 11 1006562 1007633 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499127,nsv499345 M 9 2 0 MUC6 esv3523 11 1006746 1008120 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25964 S 1 0 0 Single Asian sample YH MUC6 YH nsv825688 11 1007149 1008548 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425191 S 31 1 0 MUC6 AK2 esv7984 11 1007748 1007872 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30425 S 1 0 1 MUC6 SJK esv3671 11 1007754 1008120 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26112 S 1 0 0 Single Asian sample YH MUC6 YH esv1474704 11 1008011 1008011 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767733 S 2 1 0 MUC6 HuRef nsv896648 11 1013496 1050934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514286 S 6533 0 1 MUC6 SP55992 dgv959n71 11 1013496 1095976 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896650,nsv896649 M 6533 0 2 MUC2,MUC6 IS41243,MS10386 nsv896651 11 1034938 1107281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533564 S 6533 0 1 MUC2 MS11237 nsv825689 11 1047952 1049249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436884 S 31 1 0 "" NA18542 nsv8762 11 1048209 1050729 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21733,nssv22274 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517 esv25688 11 1048219 1050093 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13764,esv14653 M 451 0 3 "" NA18508,NA19099,NA19225 dgv960n71 11 1053767 1107281 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896654,nsv896652,nsv896655 M 6533 0 4 MUC2 IS33504,IS37172,IS37646,MS17208 nsv60 11 1057274 1084617 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv60 S 1 1 0 MUC2 NA15510 nsv7638 11 1057274 1095129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6433,nssv3914,nssv9938,nssv979,nssv10790,nssv11247,nssv5336 M 9 7 0 MUC2 NA12156,NA12878,NA15510,NA18507,NA18956,NA19129,NA19240 nsv896653 11 1058900 1095976 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575105,nssv1532452,nssv1564425 M 6533 1 2 MUC2 IS30210,IS33684,MS10769 dgv961n71 11 1058900 1119721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896656,nsv896657,nsv896662 M 6533 0 3 MUC2 IS32841,MS10698,MS16315 dgv962n71 11 1058900 1220099 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896660,nsv896658,nsv896659,nsv896661 M 6533 0 4 MUC2,MUC5B IS31045,IS33178,IS35484,IS38176 dgv963n71 11 1063712 1471847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896663,nsv896672,nsv896671 M 6533 0 3 BRSK2,LOC255512,MOB2,MUC2,MUC5B,TOLLIP IS39233,MS13770,MS17208 nsv518205 11 1064401 1073946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695629 S 2026 0 1 MUC2 esv1678011 11 1066639 1066639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676388 S 2 1 0 MUC2 HuRef nsv511482 11 1067709 1070597 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626098 S 1 0 1 MUC2 1 esv1010440 11 1068543 1071853 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564711 S 3 1 0 MUC2 HuRef nsv512200 11 1068621 1069653 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624768 S 1 0 1 MUC2 1 nsv39410 11 1068765 1069027 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57988 M 24 MUC2 esv22815 11 1068800 1069645 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16686 S 451 4 9 MUC2 NA07037,NA12006,NA12239,NA12287,NA12489,NA12828,NA12878,NA18517,NA18523,NA18858,NA19114,NA19190,NA19257 esv992502 11 1068932 1069915 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563600 S 3 0 1 MUC2 HuRef nsv511471 11 1080343 1083769 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626086 S 1 0 1 MUC2 1 nsv825690 11 1081292 1082537 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435303 S 31 0 1 MUC2 NA18942 esv1217413 11 1082692 1082761 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323407 S 2 0 1 MUC2 HuRef esv1343845 11 1082795 1082795 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891097 S 2 1 0 MUC2 HuRef dgv964n71 11 1110324 1220099 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896664,nsv896666,nsv896665 M 6533 0 8 MUC5B IS30197,IS33162,IS33601,IS34908,MS11306,MS11579,MS12262,MS13095 esv1571165 11 1132286 1132350 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823241 S 2 0 1 "" HuRef dgv965n71 11 1134048 1203517 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896667,nsv896677 M 6533 0 2 MUC5B SP50159,SP54988 dgv966n71 11 1134048 1292320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896668,nsv896669,nsv896674 M 6533 0 3 LOC255512,MUC5B,TOLLIP IS32737,IS40502,MS10311 dgv967n71 11 1134048 1365166 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896675,nsv896670 M 6533 0 2 LOC255512,MUC5B,TOLLIP IS39417,MS10769 dgv968n71 11 1134048 1639330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896673,nsv896676 M 6533 0 2 BRSK2,DUSP8,KRTAP5-1,KRTAP5-2,KRTAP5-3,KRTAP5-4,KRTAP5-5,LOC255512,LOC338651,MOB2,MUC5B,TOLLIP IS32841,MS10123 esv1495513 11 1150453 1150453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915744 S 2 1 0 "" HuRef nsv825691 11 1169552 1170232 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438329 S 31 1 0 "" NA18951 nsv8763 11 1186024 1241328 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24826 S 31 1 0 Samples from several populations that are part of the HapMap project. MUC5B NA19221 nsv524071 11 1193003 1214035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699939 S 2026 0 1 MUC5B dgv969n71 11 1195404 1376520 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896684,nsv896678 M 6533 0 2 BRSK2,LOC255512,MUC5B,TOLLIP IS37172,SP54956 dgv970n71 11 1207064 1303378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896683,nsv896680,nsv896681,nsv896682,nsv896679 M 6533 0 7 LOC255512,MUC5B,TOLLIP IS33178,IS33248,IS35007,IS35484,IS41243,MS16315,SP54988 esv26924 11 1220165 1229340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21141 S 451 0 1 MUC5B NA18858 nsv467637 11 1220352 1311280 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542859 S 1557 0 1 LOC255512,MUC5B,TOLLIP 1782681313_A esv1522213 11 1221601 1223272 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362298 S 2 0 1 MUC5B HuRef dgv971n71 11 1223901 1471847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896685,nsv896690 M 6533 0 2 BRSK2,LOC255512,MOB2,MUC5B,TOLLIP IS34304,MS16153 dgv972n71 11 1240803 1351897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896686,nsv896688 M 6533 0 2 LOC255512,TOLLIP IS33504,IS33684 nsv825692 11 1242070 1247448 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435304 S 31 0 1 "" NA18942 nsv825693 11 1249345 1262010 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437644 S 31 1 0 TOLLIP NA18949 nsv825694 11 1252060 1253984 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421983 S 31 1 0 TOLLIP NA18997 nsv896687 11 1256982 1283725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507695 S 6533 0 1 TOLLIP SP54725 dgv973n71 11 1259283 1559044 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896689,nsv896693 M 6533 0 2 BRSK2,DUSP8,LOC255512,LOC338651,MOB2,TOLLIP IS37646,MS18276 esv1170595 11 1265606 1265606 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831694 S 2 1 0 TOLLIP HuRef esv1001632 11 1268503 1278209 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564127 S 3 0 1 TOLLIP HuRef nsv818794 11 1270604 1280140 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417745 S 112 0 1 TOLLIP NA19003 esv21758 11 1271809 1272854 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19535,esv13122 M 451 14 0 TOLLIP NA07037,NA11931,NA12006,NA12239,NA12287,NA12414,NA12776,NA12878,NA18508,NA18861,NA18916,NA19190,NA19225,NA19240 nsv39591 11 1271917 1272007 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58169 M 24 TOLLIP esv1673155 11 1272157 1272295 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246944 S 2 0 1 TOLLIP HuRef esv1056483 11 1272316 1272551 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668987 S 2 0 1 TOLLIP HuRef nsv467641 11 1311280 1354595 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542861 S 1557 0 1 "" 1780862067_A nsv896691 11 1311280 1471847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530707 S 6533 0 1 BRSK2,MOB2 MS10311 nsv896692 11 1313639 1394679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571511 S 6533 0 1 BRSK2 IS32737 esv1225554 11 1319397 1319397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3822501 S 2 1 0 "" HuRef esv26389 11 1329370 1331476 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18687 S 451 1 3 "" NA07037,NA12006,NA12044,NA18858 esv2445618 11 1329374 1331064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256199 S 1 0 1 "" NA18507 nsv512201 11 1329563 1331278 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624769 S 1 0 1 "" 1 dgv10n68 11 1341557 1478016 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832046,nsv832047 M 95 0 15 BRSK2,MOB2 nsv825695 11 1342446 1345773 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435305 S 31 0 1 "" NA18942 nsv469925 11 1350285 1386192 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546028 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BRSK2 HGDP00556 nsv467642 11 1361414 1405949 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542862 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BRSK2 HGDP01351 dgv974n71 11 1365166 1471847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896696,nsv896695,nsv896694,nsv896697,nsv896700,nsv896701,nsv896702 M 6533 0 9 BRSK2,MOB2 IS32322,IS33178,IS33248,IS34235,IS35484,IS37985,IS40230,MS16315,SP50159 dgv975n71 11 1372717 1442205 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896698,nsv896699 M 6533 0 2 BRSK2 IS38176,MS11237 nsv38732 11 1382797 1382797 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57310 M 24 BRSK2 esv1644887 11 1382890 1382890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263749 S 2 1 0 BRSK2 HuRef nsv825696 11 1386734 1387394 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436886 S 31 1 0 BRSK2 NA18542 nsv39243 11 1387711 1387793 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57821 M 24 BRSK2 esv23631 11 1389867 1390482 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14080 S 451 11 0 BRSK2 NA12006,NA12239,NA12489,NA12878,NA15510,NA18502,NA18508,NA19099,NA19108,NA19240,NA19257 esv988117 11 1389980 1390231 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566549 S 3 0 1 BRSK2 HuRef esv1076319 11 1390020 1390272 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864209 S 2 0 1 BRSK2 HuRef esv1962941 11 1395142 1396081 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519348 S 1 0 1 BRSK2 NA18507 esv24637 11 1395340 1396455 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14353 S 451 0 1 BRSK2 NA12828 dgv976n71 11 1396470 1471847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896705,nsv896704,nsv896703,nsv896706 M 6533 0 5 BRSK2,MOB2 IS33684,IS34057,IS40502,IS41410,SP54956 nsv7639 11 1405813 1426296 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1918 S 9 0 1 BRSK2 NA18555 nsv820797 11 1406966 1412481 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420920 S 1 0 1 BRSK2 NA10851 esv23309 11 1407146 1411056 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17770 S 451 12 14 BRSK2 NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA18508,NA18523,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv512202 11 1407165 1410944 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624770 S 1 0 1 BRSK2 1 nsv514599 11 1407310 1410911 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627105 S 1414 0 0 BRSK2 esv1010049 11 1407441 1410886 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586197 S 3 1 0 BRSK2 HuRef esv1341351 11 1407759 1410640 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062781 S 2 0 1 BRSK2 HuRef nsv896707 11 1410135 1455660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508194,nssv1510835 M 6533 0 2 BRSK2,MOB2 SP54725,SP54988 esv1733198 11 1419629 1419790 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972059 S 2 0 1 BRSK2 HuRef nsv896708 11 1442205 1559044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532454 S 6533 0 1 DUSP8,LOC338651,MOB2 MS10769 nsv896709 11 1485019 1559044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509991 S 6533 0 1 DUSP8,LOC338651,MOB2 SP54956 esv25033 11 1487903 1488530 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16143 S 451 1 0 MOB2 NA12156 esv1249924 11 1488048 1488113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683376 S 2 0 1 MOB2 HuRef nsv7640 11 1495028 1531489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1919,nssv6434,nssv9939,nssv3915,nssv10791,nssv5337 M 9 6 0 MOB2 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129 esv989291 11 1515082 1515812 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563803 S 3 1 0 MOB2 HuRef esv1440409 11 1520917 1520967 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966013 S 2 0 1 MOB2 HuRef dgv977n71 11 1528631 1557002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896711,nsv896710,nsv896712 M 6533 0 4 DUSP8,LOC338651,MOB2 SP54042,SP54684,SP54988,SP57469 esv1374218 11 1528748 1529788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771842 S 2 0 1 MOB2 HuRef dgv978n71 11 1532655 1552822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896714,nsv896713 M 6533 0 2 DUSP8,LOC338651,MOB2 SP50159,SP56047 nsv7641 11 1536652 1539279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv980 S 9 1 0 DUSP8,MOB2 NA19240 esv991273 11 1585541 1585627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579732 S 3 0 1 KRTAP5-3,MOB2 HuRef nsv517817 11 1588756 1598225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695222 S 2026 0 1 MOB2 dgv979n71 11 1588756 1648197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896715,nsv896718,nsv896717,nsv896716 M 6533 0 4 FAM99A,KRTAP5-4,KRTAP5-5,MOB2 IS37646,IS41634,MS10311,MS10769 dgv980n71 11 1588756 1686169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896725,nsv896719,nsv896724 M 6533 0 3 FAM99A,FAM99B,KRTAP5-4,KRTAP5-5,KRTAP5-6,MOB2 IS32841,IS33504,IS39233 nsv467643 11 1594620 1606840 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542863 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KRTAP5-4,MOB2 HGDP00771 dgv981n71 11 1596600 1610021 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896720,nsv896721 M 6533 0 2 KRTAP5-4,KRTAP5-5,MOB2 IS39233,MS18276 nsv467644 11 1596600 1619112 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542864 S 1557 0 1 KRTAP5-4,KRTAP5-5,MOB2 NINDS_3 dgv982n71 11 1601492 1634590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896723,nsv896722 M 6533 0 2 KRTAP5-5,MOB2 IS33684,MS17208 esv2506963 11 1610036 1612999 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312104 S 1 0 1 MOB2 NA18507 esv2563178 11 1610406 1614060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376309 S 1 0 1 MOB2 NA18507 esv26436 11 1611015 1613217 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12411 S 451 0 6 MOB2 NA12004,NA12006,NA12287,NA12414,NA18511,NA19190 nsv896726 11 1613884 1648197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549812 S 6533 0 1 FAM99A,MOB2 MS18276 nsv511489 11 1615884 1622247 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626106 S 1 0 1 MOB2 1 nsv820621 11 1619273 1620258 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420921 S 1 0 1 MOB2 NA10851 esv26626 11 1619283 1620183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19891 S 451 0 14 MOB2 NA07037,NA12006,NA12156,NA12239,NA12489,NA12878,NA18502,NA18523,NA18858,NA18907,NA18909,NA18916,NA19114,NA19190 nsv512203 11 1619349 1620983 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624771 S 1 0 1 MOB2 1 esv2177310 11 1619382 1620130 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882634 S 1 0 1 MOB2 NA18507 esv4459 11 1619483 1620191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26900 S 1 0 1 Single Asian sample YH MOB2 YH esv8209 11 1619529 1620092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30650 S 1 0 1 MOB2 SJK nsv38977 11 1619531 1620111 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57555 M 24 MOB2 esv1027347 11 1619531 1620112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833903 S 2 0 1 MOB2 HuRef nsv896727 11 1637577 2043796 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558063 S 6533 1 0 CTSD,FAM99A,FAM99B,H19,IFITM10,KRTAP5-6,LSP1,MIR4298,MIR675,MOB2,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 MS23098 esv29845 11 1638071 1639266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12538 S 451 0 1 MOB2 NA18858 esv1927342 11 1638602 1639160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526190 S 1 0 1 MOB2 NA18507 nsv896728 11 1639330 1884793 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553017 S 6533 1 0 CTSD,FAM99A,FAM99B,IFITM10,KRTAP5-6,LSP1,MIR4298,MOB2,SYT8,TNNI2 MS19698 esv7747 11 1643375 1663393 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30188 S 1 0 0 FAM99A,FAM99B,MOB2 SJK nsv435977 11 1647047 1663209 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466629 S 2 0 0 FAM99B,MOB2 NA15510 nsv832049 11 1647729 1795184 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448981,nssv1448982 M 95 0 2 CTSD,FAM99B,IFITM10,KRTAP5-6,MOB2 esv2214914 11 1648123 1648579 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629610 S 1 0 1 MOB2 NA18507 esv24126 11 1648133 1649028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20361 S 451 0 2 MOB2 NA18502,NA19147 esv2179135 11 1648192 1648819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765399 S 1 0 1 MOB2 NA18507 nsv896729 11 1653425 1693240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576931 S 6533 0 1 FAM99B,KRTAP5-6,MOB2 IS34304 nsv896730 11 1658897 1677665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530709 S 6533 0 1 FAM99B,KRTAP5-6,MOB2 MS10311 esv1323796 11 1662378 1662697 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889382 S 2 0 1 FAM99B,MOB2 HuRef nsv896731 11 1666232 1997573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585932 S 6533 0 1 CTSD,H19,IFITM10,KRTAP5-6,LSP1,MIR4298,MIR675,MOB2,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 IS37646 nsv896732 11 1671560 1790830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546770 S 6533 0 1 CTSD,IFITM10,KRTAP5-6,MOB2 MS17208 nsv467645 11 1710976 2396343 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542865 S 1557 1 0 ASCL2,C11orf21,CD81,CTSD,H19,IFITM10,IGF2,IGF2AS,INS,INS-IGF2,LSP1,MIR4298,MIR4686,MIR483,MIR675,MOB2,MRPL23,MRPL23-AS1,SYT8,TH,TNNI2,TNNT3,TRPM5,TSPAN32,TSSC4 1780854483_A nsv896733 11 1717132 1752184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510837 S 6533 0 1 CTSD,IFITM10,MOB2 SP54988 esv2403037 11 1723320 1723786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956647 S 1 0 1 IFITM10,MOB2 NA18507 nsv7642 11 1727208 1762234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8874,nssv2855 M 9 2 0 CTSD,IFITM10,MOB2 NA12156,NA18555 nsv896734 11 1728373 1733476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501009 S 6533 0 1 CTSD,IFITM10,MOB2 SP51109 nsv896735 11 1728373 1736781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500004 S 6533 0 1 CTSD,IFITM10,MOB2 SP50159 nsv896736 11 1728373 1752184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511449,nssv1509992,nssv1507855 M 6533 0 3 CTSD,IFITM10,MOB2 SP54725,SP54956,SP55021 esv1293972 11 1732248 1732248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093498 S 2 1 0 CTSD,MOB2 HuRef esv1743207 11 1782045 1782127 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706079 S 2 0 1 "" HuRef nsv469926 11 1790830 2014222 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546037,nssv546038,nssv546033,nssv546029,nssv546042,nssv546030,nssv546036,nssv546040,nssv546039,nssv546035,nssv546034,nssv546041 M 443 0 12 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations H19,LSP1,MIR4298,MIR675,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 HGDP00288,HGDP00298,HGDP00302,HGDP00546,HGDP00550,HGDP00657,HGDP00661,HGDP00697,HGDP00703,HGDP00825,HGDP00959,HGDP00978 nsv896737 11 1797530 1874448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592266 S 6533 0 1 LSP1,MIR4298,SYT8,TNNI2 IS39233 dgv983n71 11 1797530 2022607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896738,nsv896741 M 6533 0 3 H19,LSP1,MIR4298,MIR675,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 IS33504,MS10311,MS18276 esv29980 11 1798403 2075695 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84219 S 2 0 1 H19,LSP1,MIR4298,MIR675,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 HuRef nsv896739 11 1805930 1819015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499916 S 6533 0 1 SYT8,TNNI2 SP50159 dgv984n71 11 1805930 1830648 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896745,nsv896740 M 6533 0 4 SYT8,TNNI2 SP51109,SP54725,SP54956,SP54988 dgv985n71 11 1811147 1819259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896742,nsv896743 M 6533 0 2 SYT8,TNNI2 SP55992,SP56223 nsv896744 11 1811147 1822136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511450 S 6533 0 1 SYT8,TNNI2 SP55021 nsv896746 11 1811147 1840918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509344 S 6533 0 1 LSP1,MIR4298,SYT8,TNNI2 SP54782 nsv522320 11 1813688 1974744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695100 S 2026 0 1 H19,LSP1,MIR4298,MIR675,MRPL23,MRPL23-AS1,SYT8,TNNI2,TNNT3 nsv467647 11 1813846 1865582 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542866 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LSP1,MIR4298,SYT8,TNNI2 HGDP00971 dgv986n71 11 1814838 1822136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896747,nsv896748 M 6533 0 2 SYT8,TNNI2 SP54042,SP54043 nsv467648 11 1830980 1869302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542867 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LSP1,MIR4298 HGDP01339 nsv7643 11 1845532 1905501 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6435,nssv981,nssv3916,nssv9812,nssv5338,nssv10883,nssv9265,nssv1920 M 9 0 8 LSP1,TNNT3 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA19129,NA19240 esv1740077 11 1851897 1851897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153758 S 2 1 0 LSP1 HuRef nsv61 11 1855962 1897796 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv61 S 1 0 1 LSP1,TNNT3 NA15510 nsv7213 11 1856836 1956635 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5339,nssv984,nssv6436,nssv10792,nssv9813,nssv1921,nssv10884,nssv982,nssv10793,nssv6437,nssv9266,nssv5341,nssv3917,nssv1922 M 9 0 0 LSP1,MRPL23,TNNT3 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv39720 11 1859414 1859414 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58298 M 24 LSP1 esv1011285 11 1862375 1864216 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587085 S 3 0 1 LSP1 HuRef nsv825699 11 1862394 1864216 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436887 S 31 1 0 LSP1 NA18542 nsv825700 11 1862417 1864216 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435306,nssv1441326 M 31 1 1 LSP1 NA18942,NA18969 esv26638 11 1862691 1864048 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11030 S 451 1 0 LSP1 NA12044 esv1011096 11 1868504 1917767 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565289 S 3 0 0 LSP1,TNNT3 HuRef dgv33n16 11 1870697 1893847 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435929,nsv436127 M 2 0 2 "" NA15510,NA18505 esv990020 11 1870727 1895236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564280 S 3 0 1 "" HuRef esv2615443 11 1870776 1917668 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165859 S 1 0 0 TNNT3 NA18507 esv2490419 11 1871269 1894071 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266279 S 1 0 1 "" NA18507 esv4676 11 1871796 1893599 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27117 S 1 0 1 Single Asian sample YH "" YH esv1617544 11 1871848 1893342 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939709 S 2 0 0 "" HuRef esv7031 11 1871854 1893525 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29472 S 1 0 1 "" SJK nsv513689 11 1871869 1917714 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626941 S 1 0 0 TNNT3 1 dgv34n16 11 1872866 1919497 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436694,nsv435975 M 2 0 0 TNNT3 NA15510,NA18505 nsv896749 11 1874448 1956234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542694 S 6533 0 1 MRPL23,TNNT3 MS15835 dgv987n71 11 1874448 2022607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896755,nsv896754,nsv896752,nsv896753,nsv896751,nsv896750 M 6533 0 8 H19,MIR675,MRPL23,MRPL23-AS1,TNNT3 IS32737,IS33684,IS38840,IS39258,MS11306,MS13770,MS16153,MS17208 nsv518858 11 1884793 1895099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696312 S 2026 0 1 "" nsv62 11 1886737 1939055 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv62 S 1 0 0 MRPL23,TNNT3 NA15510 esv26991 11 1892066 1893526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17893 S 451 0 1 "" NA07037 nsv825701 11 1892125 1893956 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424422,nssv1421984 M 31 0 2 "" NA18582,NA18997 nsv436657 11 1892648 1915999 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466634 S 2 0 0 Samples from several populations that are part of the HapMap project. TNNT3 NA18505 nsv825702 11 1892847 1893956 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430790,nssv1441327 M 31 0 2 "" AK16,NA18969 esv1001997 11 1893406 1920429 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564032 S 3 0 0 TNNT3 HuRef dgv988n71 11 1900778 1985854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896756,nsv896763 M 6533 0 2 H19,MIR675,MRPL23,MRPL23-AS1,TNNT3 IS38538,IS40502 nsv516622 11 1905537 1971285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697756,nssv680624,nssv669619 M 2026 0 3 MRPL23,MRPL23-AS1,TNNT3 dgv989n71 11 1905537 2022607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896757,nsv896764,nsv896765 M 6533 0 7 H19,MIR675,MRPL23,MRPL23-AS1,TNNT3 IS32888,IS39233,MS10123,MS10386,MS10698,MS10769,MS16315 esv1007968 11 1906509 1917664 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565351 S 3 1 0 TNNT3 HuRef nsv7644 11 1909619 1922464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv985,nssv10885,nssv3918,nssv5342 M 9 4 0 TNNT3 NA12878,NA15510,NA19129,NA19240 nsv63 11 1915678 1918633 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv63 S 1 1 0 TNNT3 NA15510 nsv825703 11 1918346 1934965 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426917 S 31 1 0 MRPL23 AK6 esv3944 11 1919415 1919782 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26385 S 1 0 1 Single Asian sample YH "" YH nsv39683 11 1919467 1919645 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58261 M 24 "" dgv990n71 11 1920888 1935694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896759,nsv896758 M 6533 0 3 MRPL23 SP54043,SP54225,SP54988 nsv896760 11 1920888 1941487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508323,nssv1511451 M 6533 0 2 MRPL23 SP54672,SP55021 dgv991n71 11 1920888 1973484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896762,nsv896761,nsv896766 M 6533 0 3 H19,MRPL23,MRPL23-AS1 SP54657,SP54725,SP54956 esv2041292 11 1928236 1928679 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815146 S 1 0 1 MRPL23 NA18507 esv1010623 11 1928433 1928550 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585080 S 3 0 1 MRPL23 HuRef esv1696864 11 1928434 1928552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699324 S 2 0 1 MRPL23 HuRef nsv896767 11 1941703 2000443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572657 S 6533 0 1 H19,MIR675,MRPL23-AS1 IS33162 nsv896768 11 1941703 2022607 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573321 S 6533 1 0 H19,MIR675,MRPL23-AS1 IS33263 nsv38484 11 1954311 1954382 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57062 M 24 "" nsv896769 11 1958471 2052309 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553018 S 6533 1 0 H19,MIR675,MRPL23-AS1 MS19698 esv1002737 11 1983342 1983457 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568570 S 3 0 1 "" HuRef nsv39224 11 1983468 1983584 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57802 M 24 "" nsv825704 11 2019436 2048343 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424424 S 31 0 1 "" NA18582 dgv188n67 11 2019451 2048416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825705,nsv825706 M 31 2 0 "" NA18951,NA18969 esv23423 11 2019452 2044661 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20598 S 451 2 0 "" NA12044,NA12239 esv992756 11 2020319 2048416 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587102 S 3 0 1 "" HuRef esv33281 11 2021347 2048176 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94491,essv96718 M 51 0 2 "" 21932,22011 nsv526035 11 2022607 2032619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702266 S 2026 0 1 "" nsv467649 11 2022607 2052375 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542868 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00790 nsv527587 11 2025293 2031152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704048 S 2026 0 1 "" dgv992n71 11 2043796 2197848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896774,nsv896773,nsv896770,nsv896775 M 6533 0 4 IGF2,IGF2AS,INS,INS-IGF2,MIR4686,MIR483,TH IS32841,IS39233,MS10123,MS10311 dgv993n71 11 2065370 2130023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896771,nsv896772 M 6533 0 2 IGF2,IGF2AS,INS-IGF2,MIR483 IS33684,IS35484 nsv896776 11 2065370 2296313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543596 S 6533 0 1 ASCL2,C11orf21,IGF2,IGF2AS,INS,INS-IGF2,MIR4686,MIR483,TH,TSPAN32 MS16153 esv25130 11 2102330 2105070 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17568 S 451 1 0 "" NA12044 dgv994n71 11 2103313 2169742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896777,nsv896780 M 6533 0 2 IGF2,IGF2AS,INS,INS-IGF2,MIR4686,MIR483,TH IS34304,IS35007 dgv995n71 11 2103313 2194864 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896779,nsv896782,nsv896786,nsv896783,nsv896781,nsv896778 M 6533 0 7 IGF2,IGF2AS,INS,INS-IGF2,MIR4686,MIR483,TH IS31045,IS31656,IS37646,IS38176,IS41634,MS11306,SP54988 nsv825707 11 2110160 2123793 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426919 S 31 1 0 IGF2,IGF2AS,INS-IGF2,MIR483 AK6 dgv996n71 11 2110210 2125590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896784,nsv896787 M 6533 0 2 IGF2,IGF2AS,INS-IGF2,MIR483 SP54593,SP54956 nsv896785 11 2112452 2120909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506017 S 6533 0 1 IGF2,IGF2AS,INS-IGF2 SP54043 dgv997n71 11 2130023 2197848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896789,nsv896799,nsv896790,nsv896791,nsv896788,nsv896800 M 6533 0 9 INS,INS-IGF2,MIR4686,TH IS37172,IS41243,MS10386,MS10698,MS10769,MS16315,MS17208,MS18276,SP54956 dgv998n71 11 2131463 2135780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896795,nsv896792 M 6533 0 2 INS-IGF2 SP54657,SP80977 nsv896793 11 2131463 2137649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506996 S 6533 1 0 INS,INS-IGF2 SP54448 nsv896794 11 2132618 2135780 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509009,nssv1500688 M 6533 1 1 INS-IGF2 SP50179,SP54725 nsv896796 11 2133428 2137649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504923 S 6533 0 1 INS,INS-IGF2 SP52868 nsv896797 11 2133428 2146294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499772 S 6533 0 1 INS,INS-IGF2,TH SP50159 nsv896798 11 2133428 2179489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509345 S 6533 0 1 INS,INS-IGF2,MIR4686,TH SP54782 esv1425123 11 2139398 2139398 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736737 S 2 1 0 "" HuRef esv1680109 11 2139583 2139654 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192898 S 2 0 1 "" HuRef nsv469927 11 2142911 2179489 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546044 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4686,TH HGDP00298 nsv896801 11 2142911 2353242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537122 S 6533 0 1 ASCL2,C11orf21,MIR4686,TH,TSPAN32 MS13095 esv2212980 11 2155470 2156022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626634 S 1 0 1 "" NA18507 esv2581373 11 2165417 2166272 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345981 S 1 1 0 "" NA18507 nsv39326 11 2165732 2165732 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57904 M 24 "" esv2350527 11 2171778 2172354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997860 S 1 0 1 "" NA18507 esv3391 11 2171869 2172326 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25832 S 1 0 1 Single Asian sample YH "" YH esv8811 11 2171907 2172156 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31252 S 1 0 1 "" SJK esv1447584 11 2215993 2215993 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701303 S 2 1 0 "" HuRef esv1009538 11 2222259 2225099 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565396 S 3 0 1 "" HuRef nsv825708 11 2246530 2247446 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428513 S 31 1 0 ASCL2 AK10 nsv825710 11 2255365 2263566 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441330 S 31 1 0 "" NA18969 nsv467651 11 2267728 2279238 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542870 S 1557 0 1 C11orf21 NINDS_173 dgv999n71 11 2269545 2296313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896802,nsv896807,nsv896803 M 6533 0 3 C11orf21,TSPAN32 IS38840,MS10311,MS10769 nsv896804 11 2269545 2319366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585934 S 6533 0 1 C11orf21,TSPAN32 IS37646 nsv896805 11 2271980 2296313 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564426,nssv1580884 M 6533 1 1 C11orf21,TSPAN32 IS30210,IS35484 nsv896806 11 2271980 2450542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546773 S 6533 0 1 C11orf21,CD81,KCNQ1,TRPM5,TSPAN32,TSSC4 MS17208 nsv469928 11 2271980 2451268 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546047,nssv546049,nssv546046,nssv546045,nssv546048 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C11orf21,CD81,KCNQ1,TRPM5,TSPAN32,TSSC4 HGDP00288,HGDP00290,HGDP00546,HGDP00789,HGDP00978 esv29043 11 2277388 2278133 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17052 S 451 2 0 C11orf21 NA12044,NA12489 esv1338872 11 2286293 2286429 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156929 S 2 0 1 TSPAN32 HuRef nsv896808 11 2324290 2375472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579011 S 6533 0 1 CD81 IS35007 dgv1000n71 11 2330091 2450542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896815,nsv896817,nsv896809,nsv896810,nsv896814,nsv896813,nsv896819,nsv896818 M 6533 0 15 CD81,KCNQ1,TRPM5,TSSC4 IS30369,IS32322,IS32737,IS32841,IS32888,IS33504,IS34005,IS34235,IS37172,IS37646,IS40502,MS10311,MS10698,MS11306,MS18276 nsv896811 11 2330091 2516911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532459 S 6533 0 1 CD81,KCNQ1,TRPM5,TSSC4 MS10769 nsv896812 11 2341328 2394001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543597 S 6533 0 1 CD81,TRPM5,TSSC4 MS16153 nsv896816 11 2346209 2377076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510841 S 6533 0 1 CD81 SP54988 nsv509382 11 2353956 2417001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623803,nssv619822 M 4 2 0 CD81,TRPM5,TSSC4 NA10860,NA18994 nsv896820 11 2359323 2386229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509997 S 6533 0 1 CD81,TRPM5,TSSC4 SP54956 nsv896821 11 2359323 2435095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592269 S 6533 0 1 CD81,KCNQ1,TRPM5,TSSC4 IS39233 esv1007864 11 2362309 2362359 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579795 S 3 0 1 CD81 HuRef esv1285833 11 2363425 2363487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170875 S 2 0 1 CD81 HuRef esv25890 11 2396214 2397586 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17711 S 451 1 0 TRPM5 NA11995 dgv189n67 11 2396931 2397706 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825713,nsv825712,nsv825711 M 31 3 0 TRPM5 AK10,NA18968,NA18997 nsv825714 11 2397269 2397706 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439108 S 31 1 0 TRPM5 NA18973 esv25408 11 2406151 2407806 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11466 S 451 1 1 "" NA12044,NA18502 nsv896822 11 2431726 2572176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529850 S 6533 0 1 KCNQ1 MS10123 nsv896823 11 2438668 2487832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595991 S 6533 1 0 KCNQ1 IS40380 nsv896824 11 2438668 2525422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538663 S 6533 0 1 KCNQ1 MS13770 nsv509383 11 2453855 2578920 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619825 S 4 1 0 KCNQ1 NA10860 nsv525578 11 2454077 2455754 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701717 S 2026 1 0 KCNQ1 dgv1001n71 11 2474912 2520135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896826,nsv896825 M 6533 0 2 KCNQ1 IS37985,MS17208 nsv469929 11 2486738 2553901 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546053,nssv546050,nssv546052,nssv546051 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNQ1 HGDP00302,HGDP00661,HGDP00825,HGDP00978 nsv896827 11 2491059 2544582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588226 S 6533 0 1 KCNQ1 IS38176 dgv1002n71 11 2507551 2572176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896830,nsv896831,nsv896828 M 6533 0 3 KCNQ1 MS13727,MS17208,MS18276 nsv896829 11 2508724 2536465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571913 S 6533 0 1 KCNQ1 IS32841 esv29429 11 2514606 2515381 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10186 S 451 0 1 KCNQ1 NA18505 nsv39120 11 2530638 2530700 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57698 M 24 KCNQ1 dgv1003n71 11 2531284 2572176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896834,nsv896832 M 6533 0 3 KCNQ1 IS32737,IS40799,MS10311 nsv896833 11 2531284 2730047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543598 S 6533 0 1 KCNQ1,KCNQ1OT1 MS16153 nsv517065 11 2587055 2637391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653718,nssv663662,nssv656913,nssv663369,nssv691448,nssv665381,nssv665007,nssv685634,nssv682482,nssv665553 M 2026 10 0 KCNQ1,KCNQ1OT1 esv1004234 11 2619670 2620776 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564009 S 3 1 0 KCNQ1,KCNQ1OT1 HuRef esv991030 11 2649034 2653591 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565829 S 3 0 1 KCNQ1,KCNQ1OT1 HuRef dgv1004n71 11 2659089 2721878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896835,nsv896836 M 6533 0 2 KCNQ1,KCNQ1OT1 IS33684,MS17208 nsv467652 11 2668862 2695686 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542871 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNQ1,KCNQ1OT1 HGDP00433 nsv896837 11 2680180 2712177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530715 S 6533 0 1 KCNQ1 MS10311 nsv896838 11 2680180 2789481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585936 S 6533 0 1 KCNQ1 IS37646 nsv896839 11 2705591 2720694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576716 S 6533 0 1 KCNQ1 IS34235 nsv896840 11 2707296 2730047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549817 S 6533 0 1 KCNQ1 MS18276 nsv7647 11 2713222 2747013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv986 S 9 1 0 KCNQ1 NA19240 nsv525453 11 2742199 2743637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701581 S 2026 0 1 KCNQ1 nsv526036 11 2742199 2745492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702267 S 2026 0 1 KCNQ1 dgv333e1 11 2745620 2920188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24514,essv23940 M 271 0 0 CDKN1C,KCNQ1,KCNQ1DN,PHLDA2,SLC22A18,SLC22A18AS NA12802,NA12814 nsv896841 11 2745638 2807404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546776 S 6533 0 1 KCNQ1 MS17208 nsv896842 11 2767307 2852704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530716 S 6533 0 1 KCNQ1,KCNQ1DN MS10311 nsv896843 11 2777641 2831739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533787 S 6533 0 1 KCNQ1 MS11306 nsv896844 11 2803645 2822824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529930 S 6533 0 1 KCNQ1 MS10126 dgv1005n71 11 2803645 2852704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896845,nsv896851,nsv896847,nsv896848,nsv896854 M 6533 0 20 KCNQ1,KCNQ1DN IS31656,IS32737,IS32841,IS32918,IS33239,IS33504,IS33797,IS34235,IS34304,IS34407,IS35007,IS37172,MS10698,MS11726,MS12262,MS13095,MS13770,MS16153,MS17208,MS18276 dgv1006n71 11 2803645 2915394 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896846,nsv896850,nsv896852,nsv896849,nsv896853 M 6533 0 6 CDKN1C,KCNQ1,KCNQ1DN,PHLDA2,SLC22A18,SLC22A18AS IS31045,IS33684,IS35484,IS37646,IS39233,MS11237 nsv469930 11 2809105 2902521 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546057,nssv546058,nssv546055,nssv546056 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDKN1C,KCNQ1,KCNQ1DN,SLC22A18,SLC22A18AS HGDP00298,HGDP00550,HGDP00789,HGDP00825 nsv8764 11 2809675 2820982 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22122 S 31 1 0 Samples from several populations that are part of the HapMap project. KCNQ1 NA18502 dgv1007n71 11 2815016 2873291 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896855,nsv896857,nsv896856,nsv896858 M 6533 0 4 CDKN1C,KCNQ1,KCNQ1DN,SLC22A18AS SP54672,SP54725,SP54956,SP54988 dgv1008n71 11 2831739 2877242 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896860,nsv896859,nsv896861 M 6533 0 3 CDKN1C,KCNQ1DN,SLC22A18AS IS33340,IS41410,SP53969 nsv825715 11 2833577 2868173 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426920 S 31 1 0 CDKN1C,KCNQ1DN,SLC22A18AS AK6 esv1003512 11 2834363 2834435 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575174 S 3 0 1 "" HuRef esv1473398 11 2834364 2834437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320701 S 2 0 1 "" HuRef nsv8765 11 2839011 2849256 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17959,nssv22702,nssv19446,nssv19683,nssv22304,nssv17975,nssv20467,nssv18722,nssv19550,nssv17801,nssv20498,nssv21871,nssv20147,nssv18924,nssv19396,nssv20139,nssv19889,nssv21793 M 31 15 3 Samples from several populations that are part of the HapMap project. KCNQ1DN NA07029,NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA18972,NA18975,NA19173,NA19240 nsv467655 11 2842304 2869522 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542872 S 1557 0 1 CDKN1C,KCNQ1DN,SLC22A18AS NINDS_69 dgv1009n71 11 2842304 2924477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896862,nsv896863 M 6533 0 2 CDKN1C,KCNQ1DN,NAP1L4,PHLDA2,SLC22A18,SLC22A18AS MS16153,MS17208 nsv832050 11 2846346 2941793 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448994,nssv1448983,nssv1448987,nssv1448986,nssv1448985,nssv1448988,nssv1448989,nssv1448999,nssv1448996,nssv1448997,nssv1448991,nssv1448998,nssv1448993,nssv1448990,nssv1448992 M 95 0 15 CDKN1C,KCNQ1DN,NAP1L4,PHLDA2,SLC22A18,SLC22A18AS,SNORA54 nsv467657 11 2856994 2894207 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542873 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDKN1C,SLC22A18,SLC22A18AS HGDP00776 nsv896864 11 2858681 2873291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511452 S 6533 0 1 CDKN1C,SLC22A18AS SP55021 dgv1010n71 11 2858681 2901135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896866,nsv896865 M 6533 0 3 CDKN1C,SLC22A18,SLC22A18AS IS30197,IS40230,MS17522 dgv1011n71 11 2867197 2901135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896867,nsv896868 M 6533 0 2 SLC22A18,SLC22A18AS IS32322,IS34235 esv2181696 11 2875483 2875916 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701450 S 1 0 1 SLC22A18AS NA18507 dgv1012n71 11 2877242 2915394 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896869,nsv896873,nsv896872 M 6533 0 4 PHLDA2,SLC22A18,SLC22A18AS IS32737,IS33504,IS40799,SP54956 dgv1013n71 11 2877242 2933287 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896870,nsv896871 M 6533 0 2 NAP1L4,PHLDA2,SLC22A18,SLC22A18AS MS10311,MS18276 nsv467658 11 2880402 2902521 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542874 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC22A18,SLC22A18AS HGDP00950 nsv896874 11 2889641 2900247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514288 S 6533 0 1 SLC22A18 SP55992 esv998342 11 2901114 2901174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568619 S 3 0 1 SLC22A18 HuRef esv29762 11 2915485 2916749 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15447 S 451 0 1 "" NA18523 nsv39524 11 2915707 2915707 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58102 M 24 "" esv2527776 11 2916238 2916603 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246449 S 1 0 1 "" NA18507 nsv7648 11 2922873 2954101 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6438 S 9 1 0 NAP1L4,SNORA54 NA12156 nsv8766 11 2949255 3183762 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18005,nssv19919,nssv19580,nssv19713,nssv22334,nssv18782,nssv24851,nssv22527,nssv21901,nssv21823 M 31 0 10 Samples from several populations that are part of the HapMap project. CARS,NAP1L4,OSBPL5 NA07029,NA07048,NA10847,NA18504,NA18517,NA18853,NA19132,NA19173,NA19221,NA19240 nsv825716 11 3015877 3016656 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421987 S 31 1 0 CARS NA18997 nsv819979 11 3017375 3017746 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418923 S 2 0 1 CARS AK1 nsv896875 11 3065082 3153866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530718,nssv1546778,nssv1543600 M 6533 0 3 OSBPL5 MS10311,MS16153,MS17208 nsv509384 11 3066541 3167179 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619830,nssv619837 M 4 1 0 OSBPL5 NA10860 dgv1014n71 11 3080405 3153866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896877,nsv896876,nsv896879,nsv896878 M 6533 0 6 OSBPL5 IS33504,IS35484,IS38840,MS10123,MS10769,MS13770 esv4946 11 3081508 3081843 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27387 S 1 0 1 Single Asian sample YH OSBPL5 YH esv1583615 11 3089861 3089861 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706199 S 2 1 0 OSBPL5 HuRef nsv896880 11 3097685 3134640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549820 S 6533 0 1 OSBPL5 MS18276 nsv469931 11 3097685 3199943 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546059,nssv546060 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C11orf36,MRGPRG,OSBPL5 HGDP00825,HGDP00882 nsv896881 11 3120229 3145205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575113 S 6533 0 1 OSBPL5 IS33684 nsv519468 11 3123753 3125114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696869 S 2026 0 1 OSBPL5 dgv1015n71 11 3170734 3210432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896884,nsv896883,nsv896882 M 6533 0 3 C11orf36,MRGPRE,MRGPRG IS34235,IS38293,MS18276 esv1695445 11 3182144 3182144 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221226 S 2 1 0 "" HuRef nsv7649 11 3188850 3340481 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10794,nssv3920,nssv1923,nssv10795,nssv9814,nssv5343,nssv987,nssv6439,nssv1924,nssv3919 M 9 0 7 C11orf36,MRGPRE,MRGPRG,ZNF195 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv524468 11 3189920 3199943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700405 S 2026 0 1 C11orf36,MRGPRG dgv334e1 11 3193088 3319687 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21528,essv24259,essv17300,essv24042,essv12702,essv21167,essv19275,essv17671,essv23535,essv22835,essv22065 M 271 0 0 C11orf36,MRGPRE,MRGPRG NA06993,NA10838,NA10856,NA10859,NA11830,NA11881,NA12004,NA12154,NA12873,NA18856,NA18914 dgv335e1 11 3193088 3376156 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16413,essv9898,essv12839,essv13735,essv16880,essv17093,essv10166,essv11265,essv9711,essv15583,essv15516 M 271 0 0 C11orf36,LOC650368,MRGPRE,MRGPRG,OR7E12P,ZNF195 NA18505,NA18913,NA19119,NA19120,NA19130,NA19137,NA19139,NA19145,NA19172,NA19204,NA19205 nsv428245 11 3193088 3376156 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452021,nssv452018,nssv452022 M 62 3 0 C11orf36,LOC650368,MRGPRE,MRGPRG,OR7E12P,ZNF195 HGDP00462,NA19108,NA19257 dgv336e1 11 3193088 3656689 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9056,essv11023,essv21043 M 271 0 0 ART1,ART5,C11orf36,CHRNA10,LOC650368,MRGPRE,MRGPRG,NUP98,OR7E12P,TRPC2,ZNF195 NA06991,NA19132,NA19143 esv27427 11 3193954 3200653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16700 S 451 0 1 C11orf36,MRGPRG NA18909 esv992308 11 3194804 3201275 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563677 S 3 0 1 C11orf36,MRGPRG HuRef dgv19e180 11 3195298 3200705 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006335,esv1006228 M 3 0 1 C11orf36,MRGPRG HuRef esv33102 11 3196897 3199390 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95119,essv101707 M 51 0 2 C11orf36 21721,21909 nsv517153 11 3198799 3199943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658653,nssv686974,nssv660952,nssv670992,nssv693427,nssv657526,nssv661398,nssv654771,nssv690931,nssv693027,nssv668330,nssv678413,nssv653880,nssv669467,nssv685029,nssv686735,nssv691896,nssv671168,nssv684541,nssv676371,nssv662420,nssv664391,nssv675050,nssv690175,nssv691935,nssv658292,nssv675400,nssv663182,nssv691579,nssv673665,nssv676654,nssv684729,nssv686525 M 2026 0 33 C11orf36 nsv523703 11 3198799 3210432 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699511 S 2026 0 1 C11orf36,MRGPRE nsv8767 11 3198820 3201071 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17831 S 31 0 1 Samples from several populations that are part of the HapMap project. C11orf36 NA12872 esv6858 11 3202547 3202596 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29299 S 1 1 0 "" SJK esv1002120 11 3211130 3212495 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587187 S 3 0 1 "" HuRef nsv8770 11 3213200 3316441 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18035,nssv19476,nssv22557,nssv22364,nssv20668,nssv20497 M 31 2 4 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA11830,NA18517,NA19132,NA19144 nsv526641 11 3214412 3222527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702966 S 2026 1 0 "" dgv1016n71 11 3222527 3328263 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896887,nsv896886,nsv896885,nsv896888 M 6533 24 0 "" IS30368,IS32661,IS32843,IS33076,IS33200,IS33263,IS33543,IS33772,IS34405,IS34687,IS34872,IS37337,IS38436,IS38465,IS38591,IS39532,IS40063,IS40186,IS40458,MS10241,MS21671,MS25092,MS25190,MS25842 esv274325 11 3224102 3224522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578969,essv2579795 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268017 11 3224354 3224518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517079,essv2514049,essv2515352,essv2516620,essv2515899,essv2519400 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA12043,NA12249,NA12814,NA12873 esv1561741 11 3224385 3224385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289657 S 2 1 0 "" HuRef esv24604 11 3224785 3316422 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19662 S 451 4 0 "" NA12004,NA18505,NA19108,NA19257 nsv820441 11 3224785 3316422 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420922 S 1 0 1 "" NA10851 nsv514609 11 3230472 3233701 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628078 S 1414 1 0 "" nsv508613 11 3238128 3300541 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619006,nssv617387,nssv620164,nssv622780 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 dgv1017n71 11 3240658 3317595 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896889,nsv896890,nsv896891 M 6533 4 0 "" IS30284,IS35378,IS37995,IS40643 esv27813 11 3329774 3336468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15604 S 451 0 6 ZNF195 NA07037,NA11931,NA12006,NA12239,NA12776,NA18858 esv1009338 11 3336570 3336578 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575023 S 3 1 0 ZNF195 HuRef esv1119865 11 3336571 3336571 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984838 S 2 1 0 ZNF195 HuRef nsv8771 11 3339024 3348433 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22152,nssv21931 M 31 0 2 Samples from several populations that are part of the HapMap project. ZNF195 NA18502,NA19240 nsv7650 11 3350546 3361343 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2856 S 9 1 0 LOC650368,ZNF195 NA18555 essv5764 11 3376078 3569739 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC650368 NA18540 esv28322 11 3382657 3632565 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18699,esv16093 M 451 1 17 ART1,ART5,LOC650368,TRPC2 NA11993,NA12004,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19225,NA19257 esv2425706 11 3439022 3491515 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180269 S 1 0 1 "" NA18507 essv23732 11 3456074 3569172 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12813 nsv832051 11 3480523 3685290 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449000 S 95 1 0 ART1,ART5,CHRNA10,NUP98,TRPC2 essv2992 11 3483885 3656689 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ART1,ART5,CHRNA10,NUP98,TRPC2 NA18981 nsv467660 11 3524620 3617490 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542875 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ART5,TRPC2 HGDP00108 nsv8772 11 3559279 3562548 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22394 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 dgv337e1 11 3573460 3758005 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv839,essv3227,essv11657,essv3039,essv1729,essv24889,essv22035,essv14275,essv11182,essv6160,essv7078,essv15237,essv12859,essv15769,essv6749,essv10785,essv12340,essv14170,essv14796,essv7019,essv1219,essv20407,essv13746,essv22645,essv6651,essv11847,essv5313,essv5043,essv6615,essv10006,essv8089,essv6280,essv22448,essv20916,essv4949,essv13654,essv13894,essv19234,essv17297,essv11588,essv23876,essv15326,essv20325,essv16283,essv18108,essv10863,essv5738,essv14868,essv16786,essv10265,essv17085,essv16909,essv3420,essv20645,essv2005,essv4709,essv9450,essv12690,essv15994,essv1958,essv2193,essv7832,essv11246,essv1143,essv10378,essv16486,essv23455,essv11751,essv12188,essv15451,essv3086,essv5211 M 271 0 0 ART1,ART5,CHRNA10,NUP98,TRPC2 NA07000,NA10830,NA10838,NA10854,NA11993,NA12154,NA12236,NA12752,NA12761,NA12801,NA12814,NA12892,NA18500,NA18501,NA18504,NA18505,NA18506,NA18522,NA18523,NA18532,NA18537,NA18558,NA18562,NA18563,NA18576,NA18593,NA18608,NA18611,NA18612,NA18621,NA18622,NA18636,NA18637,NA18854,NA18856,NA18862,NA18871,NA18872,NA18945,NA18949,NA18959,NA18960,NA18964,NA18969,NA18973,NA18974,NA18981,NA18995,NA18997,NA19094,NA19099,NA19101,NA19120,NA19127,NA19131,NA19138,NA19140,NA19153,NA19154,NA19159,NA19161,NA19172,NA19173,NA19194,NA19204,NA19205,NA19206,NA19208,NA19210,NA19211,NA19221,NA19222 nsv428247 11 3573460 3758005 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452023,nssv452025,nssv452024,nssv452026,nssv452027 M 62 0 5 ART1,ART5,CHRNA10,NUP98,TRPC2 HGDP00463,NA19096,NA19113,NA19181,NA19189 nsv832052 11 3573460 3758005 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449001 S 95 0 1 ART1,ART5,CHRNA10,NUP98,TRPC2 nsv526441 11 3582753 3713262 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702744 S 2026 1 0 ART1,ART5,CHRNA10,NUP98,TRPC2 nsv8773 11 3585997 3589200 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19855 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv896892 11 3588683 3611252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566570 S 6533 1 0 TRPC2 IS30781 nsv8774 11 3596097 3602505 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22587,nssv24876,nssv22182 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132,NA19221 nsv520492 11 3601633 3601921 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691746,nssv691969,nssv671866 M 2026 3 0 "" nsv825717 11 3606214 3606882 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431520 S 31 0 1 TRPC2 AK18 nsv509385 11 3611764 3634787 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623808,nssv621131 M 4 2 0 ART1,ART5,TRPC2 NA15510,NA18994 nsv8775 11 3619588 3621443 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18812 S 31 0 1 Samples from several populations that are part of the HapMap project. ART5 NA07029 nsv8776 11 3625722 3632996 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19848,nssv18125,nssv17992,nssv22212,nssv19346,nssv19456,nssv22454,nssv20528,nssv17989,nssv20169,nssv20698,nssv23245,nssv19610,nssv22617,nssv19714,nssv24931,nssv19949,nssv18954,nssv20177,nssv17861,nssv21853,nssv18842,nssv20527,nssv19785,nssv19506 M 31 3 22 Samples from several populations that are part of the HapMap project. ART1 NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221 nsv821603 11 3631451 3632795 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420923 S 1 1 0 ART1 NA10851 esv995807 11 3631620 3632565 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586203 S 3 0 1 ART1 HuRef nsv482156 11 3643393 3649190 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558517 S 1 0 1 CHRNA10 KB1 nsv528141 11 3674705 3678880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704687 S 2026 0 1 NUP98 nsv896893 11 3693974 3738177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502274 S 6533 0 1 NUP98 SP51054 dgv190n67 11 3795316 3796335 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825719,nsv825718 M 31 0 2 PGAP2 AK4,NA18972 nsv896894 11 3816432 3844810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510000 S 6533 0 1 MIR4687,RHOG,STIM1 SP54956 esv275356 11 3865314 3869590 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585966,essv2585217 M 1250 1 1 STIM1 esv1017833 11 3873459 3873545 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208137 S 2 0 1 STIM1 HuRef nsv522040 11 3890140 3894961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694121 S 2026 0 1 STIM1 nsv896895 11 3898577 3928812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513512 S 6533 0 1 STIM1 SP55791 esv2586241 11 3938435 3939995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351292 S 1 0 1 STIM1 NA18507 esv2151404 11 3938867 3939623 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756715 S 1 0 1 STIM1 NA18507 nsv896896 11 3966985 4142171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563350 S 6533 1 0 RRM1,STIM1 MS25966 essv17026 11 4012521 4399615 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR52B4,RRM1,STIM1,TRIM21 NA19144 nsv428248 11 4012521 4466764 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452036,nssv452037,nssv452048,nssv452043,nssv452039,nssv452038,nssv452046,nssv452040,nssv452028,nssv452047,nssv452041 M 62 10 1 OR52B4,OR52K1,OR52K2,RRM1,STIM1,TRIM21 HGDP00462,HGDP00463,HGDP00473,HGDP00984,HGDP01089,NA19096,NA19108,NA19147,NA19181,NA19189,NA19225 nsv832053 11 4053103 4286839 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449002 S 95 1 0 RRM1,STIM1 esv1431944 11 4115889 4115889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041100 S 2 1 0 RRM1 HuRef nsv8777 11 4116529 4343844 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22484,nssv20259,nssv22242,nssv19406,nssv20788,nssv19376,nssv19773,nssv21913,nssv21883,nssv20558,nssv19803,nssv20199,nssv22731,nssv21961,nssv20229,nssv20728 M 31 9 1 Samples from several populations that are part of the HapMap project. RRM1 NA07048,NA12155,NA12740,NA18502,NA18504,NA18517,NA18972,NA19007,NA19144,NA19240 esv34983 11 4119050 4282368 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988332,essv6980916,essv6980915,essv6985433 M 771 1 0 "" NA19144 essv9865 11 4119053 4282368 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv818795 11 4123992 4195506 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418180 S 112 1 0 "" NA19144 nsv467662 11 4142171 4228919 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542877 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01339 nsv469627 11 4143557 4293066 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649552 M 265 4 9 Samples from several populations that are part of the HapMap project. "" nsv471670 11 4143558 4293066 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549618,nssv549621,nssv549620,nssv549617,nssv549619 M 48 3 2 "" JK1688,NA10469,NA10473,NA17015,NA17051 nsv467663 11 4144764 4195506 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542878 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01086 nsv469932 11 4156745 4228919 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546062,nssv546061 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00475,HGDP01086 essv11441 11 4177792 4272708 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18857 dgv338e1 11 4177792 4466764 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15844,essv3090,essv561,essv118,essv2235,essv10764,essv13724,essv16452,essv8735,essv6195,essv12299,essv15287,essv7065,essv10072,essv6580,essv15386,essv5924,essv8470,essv12810,essv4490,essv8218,essv10409,essv21285,essv2789,essv9164,essv8602,essv8786,essv14297,essv874,essv7002,essv17056,essv11973,essv4842,essv6239,essv12398,essv6688,essv13077,essv1411,essv10626,essv17303,essv12237,essv8332,essv1793,essv14088,essv16706,essv12730,essv14965,essv10529,essv16892,essv10837,essv16807,essv9705,essv19391,essv17108,essv5115,essv3365,essv235,essv16259,essv12673,essv2872,essv11939,essv24228,essv3566,essv17265,essv15470,essv23408,essv323 M 271 0 0 OR52B4,OR52K1,OR52K2,TRIM21 NA10854,NA10855,NA10856,NA11840,NA18500,NA18502,NA18503,NA18505,NA18508,NA18516,NA18517,NA18523,NA18532,NA18537,NA18540,NA18550,NA18552,NA18577,NA18608,NA18612,NA18621,NA18636,NA18852,NA18855,NA18856,NA18858,NA18861,NA18870,NA18871,NA18872,NA18913,NA18914,NA18945,NA18948,NA18953,NA18965,NA18966,NA18968,NA18969,NA18971,NA18987,NA18997,NA18998,NA19000,NA19007,NA19092,NA19094,NA19099,NA19101,NA19116,NA19119,NA19120,NA19128,NA19138,NA19139,NA19142,NA19161,NA19171,NA19172,NA19194,NA19203,NA19205,NA19222,NA19223,NA19238,NA19239,NA19240 nsv825721 11 4185366 4191026 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421988 S 31 1 0 "" NA18997 dgv1018n71 11 4195506 4344336 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896904,nsv896897,nsv896901,nsv896905,nsv896903 M 6533 9 0 "" SP50107,SP50125,SP50144,SP50796,SP54424,SP54661,SP56012,SP57690,SP80928 dgv1019n71 11 4195506 4344336 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv896898,nsv896902 M 6533 10 4 "" IS30763,IS31306,IS34627,IS35114,IS36158,IS38592,IS40685,IS40819,IS41664,MS15942,MS24783,MS25814,SP52318,SP56114 dgv1020n71 11 4195506 4344336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896900,nsv896906,nsv896899 M 6533 0 4 "" IS33162,IS38979,SP51021,SP57376 esv24072 11 4195638 4344245 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21401,esv15343,esv15710,esv14860,esv16804,esv13478 M 451 16 3 "" NA07037,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240 nsv442595 11 4206589 4293105 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514615 11 4206797 4292978 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628079 S 1414 0 0 "" nsv7214 11 4220793 4322148 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9815,nssv5344,nssv988,nssv10797,nssv6440,nssv9940,nssv9267,nssv5345,nssv9268,nssv6441,nssv10796,nssv3921 M 9 0 0 "" NA12156,NA12878,NA18507,NA18517,NA18956,NA19129,NA19240 nsv509386 11 4239038 4259154 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618084 S 4 1 0 "" CHM nsv510995 11 4240084 4283348 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622429,nssv621659,nssv624366 M 4 0 0 "" NA10860,NA15510,NA18994 nsv832054 11 4247183 4438051 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449003 S 95 1 0 OR52B4,OR52K2,TRIM21 nsv469800 11 4290117 4430917 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649821 M 265 3 2 Samples from several populations that are part of the HapMap project. OR52B4,OR52K2,TRIM21 dgv1021n71 11 4323772 4412531 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896909,nsv896907,nsv896910 M 6533 3 0 OR52B4,TRIM21 IS31757,IS33027,IS35519 nsv896908 11 4323772 4508678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544559 S 6533 1 0 OR52B4,OR52K1,OR52K2,TRIM21 MS16381 nsv896911 11 4357377 4763448 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551837 S 6533 1 0 C11orf40,OR51D1,OR51E1,OR51E2,OR51F1,OR52I1,OR52I2,OR52K1,OR52K2,OR52M1,TRIM21,TRIM68 MS18978 nsv469934 11 4397059 4430296 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546063 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR52K2 HGDP00542 nsv467664 11 4397414 4433275 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542879 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR52K2 HGDP00542 dgv55n21 11 4433275 4496653 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521561,nsv523709 M 2026 0 2 OR52K1 nsv825722 11 4465577 4518861 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436051 S 31 0 1 OR52K1 NA18566 nsv442215 11 4466713 4518969 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR52K1 dgv38e55 11 4466860 4518970 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34568,esv34864 M 771 0 2 OR52K1 NA18566,NA18624 dgv339e1 11 4466861 4519034 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6549,essv4540 M 271 0 0 OR52K1 NA18566,NA18624 dgv1022n71 11 4472941 4546356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896912,nsv896913 M 6533 0 10 OR52M1 IS31067,IS32703,IS35877,IS36735,IS37543,IS37632,IS38187,IS41008,IS41176,IS41664 nsv8778 11 4489484 4490888 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19774 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv2751024 11 4491897 4535290 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989429,essv6984420,essv6989959,essv6984421 M 771 0 1 OR52M1 BEC_705 nsv8779 11 4497766 4516077 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24956 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv21996 11 4499392 4500614 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13516 S 451 0 3 "" NA18861,NA19225,NA19240 nsv832055 11 4507470 4692916 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449005,nssv1449004 M 95 0 2 C11orf40,OR51D1,OR51E1,OR51E2,OR52I1,OR52I2,OR52M1,TRIM68 esv1044578 11 4510062 4510062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161192 S 2 1 0 "" HuRef esv21976 11 4515997 4516908 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14952 S 451 0 3 "" NA07037,NA12006,NA19147 nsv519327 11 4543829 4548853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691936,nssv655423,nssv688952 M 2026 0 3 "" nsv896914 11 4544516 4587928 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544560 S 6533 1 0 C11orf40,OR52I1,OR52I2,TRIM68 MS16381 nsv896915 11 4615995 4800969 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544561 S 6533 1 0 OR51D1,OR51E1,OR51E2,OR51F1,OR51F2,OR52R1 MS16381 nsv832056 11 4629577 4781466 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449007 S 95 1 0 OR51E1,OR51E2,OR51F1,OR52R1 esv29547 11 4638848 4639653 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21290 S 451 3 0 "" NA18511,NA18907,NA19190 nsv524796 11 4638952 4643814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700788 S 2026 0 1 "" nsv521245 11 4646318 4649555 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689661,nssv688216 M 2026 2 0 "" nsv896916 11 4668929 4763448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573424 S 6533 0 1 OR51E2,OR51F1 IS33361 nsv437699 11 4677780 4698530 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467580 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18914 esv271729 11 4707773 4708104 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546575,essv2568105,essv2548491,essv2535389,essv2547174,essv2564487,essv2555011,essv2544625,essv2523861,essv2542841,essv2540469,essv2549519,essv2521973,essv2541846,essv2569893,essv2553400,essv2535861,essv2578148,essv2572994,essv2555355,essv2533805,essv2566488,essv2529936,essv2557739,essv2531290,essv2573550,essv2532989 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11881,NA11995,NA12045,NA12249,NA12717,NA12751,NA12872,NA18526,NA18537,NA18550,NA18552,NA18564,NA18571,NA18592,NA18593,NA18605,NA18608,NA18940,NA18942,NA18943,NA18944,NA18948,NA18949,NA18953,NA18961,NA18964 esv29053 11 4746856 4747465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20016 S 451 0 7 OR51F1 NA12287,NA18517,NA19108,NA19147,NA19190,NA19225,NA19240 esv2456022 11 4758427 4760150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339859 S 1 0 1 "" NA18507 esv2376907 11 4758915 4759630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869947 S 1 0 1 "" NA18507 nsv38547 11 4759098 4759408 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57125 M 24 "" nsv515643 11 4763448 4768509 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679794,nssv664213 M 2026 0 2 "" esv24122 11 4770159 4777211 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15364,esv19187 M 451 0 5 "" NA12287,NA18517,NA19190,NA19240,NA19257 nsv467666 11 4771924 4873665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542880 S 1557 0 1 OR51F2,OR51S1,OR51T1,OR52R1 1780854058_A nsv7651 11 4803384 4865620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1925,nssv5346 M 9 2 0 OR51S1,OR51T1 NA18555,NA19129 nsv528215 11 4828082 4842869 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704776 S 2026 0 1 "" esv23601 11 4837083 4846423 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10654 S 451 1 0 "" NA18909 dgv340e1 11 4864469 5091907 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv316,essv21853 M 271 0 0 MMP26,OR51A2,OR51A4,OR51A7,OR51G1,OR51G2,OR51L1,OR52E2,OR52J3 NA11839,NA18971 esv271878 11 4864506 4864763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546409,essv2521310,essv2526016,essv2536369,essv2522688,essv2556582,essv2545368,essv2570565,essv2576695,essv2550778,essv2535149,essv2554054,essv2520672,essv2547601,essv2529095,essv2564604,essv2578079,essv2553595,essv2565248,essv2537407,essv2546827,essv2522007,essv2573048,essv2551401,essv2536077,essv2549033,essv2533253,essv2554789 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA11881,NA11894,NA11918,NA11920,NA11931,NA11994,NA12003,NA12044,NA12154,NA12155,NA12249,NA12287,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12812,NA12878,NA12892,NA18571,NA18942,NA19257 esv273737 11 4864509 4864768 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579158 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv8781 11 4873319 4877887 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24981 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv896917 11 4873665 4892046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599295 S 6533 0 1 OR51A7 IS41562 nsv521088 11 4882509 4885442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697780 S 2026 0 1 OR51A7 nsv507580 11 4890965 4896965 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619273 S 4 1 0 OR51G2 NA10860 nsv7652 11 4902821 4954345 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3922,nssv10799,nssv1926,nssv6443,nssv10886 M 9 0 5 OR51A2,OR51A4 NA12156,NA12878,NA15510,NA18555,NA18956 nsv526998 11 4911183 5030877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703373 S 2026 0 1 MMP26,OR51A2,OR51A4,OR51L1,OR52J3 nsv64 11 4915812 4941949 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv64 S 1 0 1 OR51A2,OR51A4 NA15510 nsv896918 11 4916608 4958146 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536200 S 6533 1 0 OR51A2,OR51A4 MS12648 essv16563 11 4918489 4948858 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR51A2,OR51A4 NA19193 nsv508614 11 4918855 4927901 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619012 S 4 0 1 OR51A4 NA10860 nsv510996 11 4918855 4927901 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618617 S 4 0 0 OR51A4 CHM esv26177 11 4920770 4921361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15112 S 451 0 1 "" NA07045 dgv35n16 11 4923374 4933692 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435629,nsv436131 M 2 0 2 OR51A2,OR51A4 NA15510,NA18505 esv22784 11 4923501 4934465 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17688 S 451 5 21 OR51A2,OR51A4 NA07037,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18523,NA18861,NA18916,NA19099,NA19108,NA19114,NA19225,NA19240 esv2568479 11 4923667 4933227 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273842 S 1 0 1 OR51A2,OR51A4 NA18507 nsv8782 11 4923827 4936482 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19885,nssv20289,nssv21943,nssv21991,nssv20557,nssv18019,nssv25006,nssv18022,nssv19804,nssv21973,nssv18872,nssv19466,nssv19486,nssv18155,nssv19979,nssv22514,nssv22647 M 31 4 12 Samples from several populations that are part of the HapMap project. OR51A2,OR51A4 NA07029,NA10839,NA10847,NA11830,NA12740,NA18504,NA18517,NA18552,NA18572,NA18942,NA18980,NA19007,NA19132,NA19173,NA19221,NA19240 nsv471358 11 4923967 4924906 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548068,nssv548066 M 3 OR51A4 nsv7653 11 4924359 4950544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv989 S 9 1 0 OR51A2,OR51A4 NA19240 nsv820116 11 4924382 4933618 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418569 S 2 0 1 OR51A2,OR51A4 AK1 nsv442596 11 4924689 4933658 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR51A2,OR51A4 dgv191n67 11 4924706 4933374 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825723,nsv825724 M 31 2 5 OR51A2,OR51A4 NA18526,NA18552,NA18582,NA18592,NA18951,NA18973,NA18997 dgv11n47 11 4924731 4933557 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498747,nsv498748 M 9 0 2 OR51A2,OR51A4 nsv443000 11 4924732 4933344 CNV Loss Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649523 M 52 OR51A2,OR51A4 dgv10n50 11 4924774 4936265 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512204,nsv511477 M 1 0 1 OR51A2,OR51A4 1 nsv825725 11 4924910 4932339 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425999 S 31 1 0 "" AK4 dgv192n67 11 4924910 4933374 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825727,nsv825730,nsv825726,nsv825728,nsv825729 M 31 0 11 OR51A2 AK12,AK16,AK18,AK20,AK6,AK8,NA18547,NA18942,NA18947,NA18968,NA18999 esv33631 11 4924967 4932228 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101455,essv98852,essv97520,essv100848,essv98328,essv94123,essv97851,essv95517,essv93147,essv101740,essv92923,essv92793,essv93640,essv96182,essv96683,essv98629,essv95975,essv93420,essv99609,essv94876,essv92534,essv98123,essv100592,essv100383,essv99559,essv98347 M 51 21 5 "" 21603,21606,21616,21656,21772,21802,21837,21847,21863,21909,21939,21944,21972,22007,22011,22085,22127,22128,22217,22231,22233,22259,22298,22300,22335,22352 nsv514619 11 4925098 4932488 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628080 S 1414 0 0 "" nsv471359 11 4932580 4933519 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548070,nssv548069 M 3 OR51A2 nsv438182 11 4932653 4933344 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470320,nssv470322,nssv470324,nssv470323,nssv470325,nssv470321 M 269 0 6 Samples from several populations that are part of the HapMap project. OR51A2 NA18912,NA18914,NA19099,NA19100,NA19102,NA19103 nsv510237 11 4970132 4976132 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618334 S 4 0 1 MMP26 CHM esv33877 11 4977712 4985160 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99412 S 51 1 0 OR51L1 22335 esv33513 11 4991194 4991449 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97890,essv97252 M 51 2 0 "" 21837,22075 nsv515951 11 5017517 5029677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663514,nssv665430,nssv675253,nssv655784 M 2026 0 4 OR52J3 nsv896919 11 5017517 5052350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517354 S 6533 0 1 OR52E2,OR52J3 SP57266 nsv896920 11 5024713 5178401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579856 S 6533 0 1 OR51V1,OR52A1,OR52A5,OR52E2,OR52J3 IS35181 nsv896921 11 5030877 5054378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521293 S 6533 0 1 OR52E2 SP52329 nsv525123 11 5035457 5035929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701191 S 2026 0 1 "" esv2422503 11 5043868 5082567 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161320 S 181 0 1 "" ND04531 nsv467667 11 5048209 5078366 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542881 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00580 nsv896922 11 5048209 5078366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579155,nssv1568025 M 6533 0 2 "" IS31187,IS35027 dgv1023n71 11 5048458 5178401 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896924,nsv896923 M 6533 0 2 OR51V1,OR52A1,OR52A5 IS31205,MS17414 esv2442206 11 5063056 5064495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382212 S 1 0 1 "" NA18507 esv995393 11 5063202 5063819 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564775 S 3 0 1 "" HuRef esv2120542 11 5063341 5063997 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803011 S 1 0 1 "" NA18507 esv4314 11 5063499 5063864 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26755 S 1 0 1 Single Asian sample YH "" YH esv2523484 11 5063540 5063786 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179983 S 1 0 1 "" NA18507 esv9008 11 5063540 5063792 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31449 S 1 0 1 "" SJK dgv18n6 11 5063541 5063791 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv38600,nsv39269 M 24 "" esv1064909 11 5063544 5063791 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120422 S 2 0 1 "" HuRef dgv193n67 11 5072455 5073015 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825732,nsv825733 M 31 6 0 "" AK12,AK2,NA18537,NA18570,NA18592,NA18999 esv272035 11 5083489 5085167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511224,essv2499403,essv2505143,essv2512232,essv2507790,essv2509926,essv2497161,essv2507918,essv2500601,essv2510059,essv2496117,essv2501535,essv2512932,essv2502402,essv2503740,essv2495171,essv2501324,essv2504795,essv2506677 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA11994,NA11995,NA12155,NA12751,NA18508,NA18552,NA18564,NA18571,NA18593,NA18603,NA18608,NA18609,NA18948,NA18960,NA18964,NA19093,NA19099,NA19108 esv1157707 11 5091989 5091989 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992707 S 2 1 0 "" HuRef nsv896925 11 5097553 5178401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536201 S 6533 1 0 OR51V1,OR52A1,OR52A5 MS12648 nsv896926 11 5099885 5127086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513341 S 6533 0 1 OR52A5 SP55747 dgv1024n71 11 5110733 5163965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896928,nsv896927 M 6533 0 3 OR52A1 IS35911,IS37103,IS39464 nsv896929 11 5148671 5228247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523320 S 6533 0 1 HBB,HBBP1,HBD,HBG1,OR51V1 SP53947 nsv523914 11 5163965 5188141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699757 S 2026 0 1 OR51V1 esv24731 11 5164071 5171194 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12319 S 451 1 0 "" NA18909 nsv526212 11 5212488 5217950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702476 S 2026 0 1 "" dgv194n67 11 5225952 5233105 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825735,nsv825734 M 31 2 0 HBG1,HBG2 AK12,NA18972 esv5471 11 5226102 5231002 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27912 S 1 0 1 HBG1,HBG2 SJK nsv896930 11 5226382 5232172 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502777 S 6533 1 0 HBG1,HBG2 SP51411 esv2648523 11 5226584 5232577 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296469 S 1 0 1 HBG1,HBG2 NA18507 nsv518156 11 5228247 5230117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695577 S 2026 0 1 "" nsv524290 11 5228247 5230117 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700190 S 2026 1 0 "" nsv442216 11 5228251 5230232 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv523347 11 5265304 5266271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699096 S 2026 0 1 "" nsv524400 11 5284937 5373198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700318 S 2026 0 1 OR51B2,OR51B5,OR51B6,OR51M1 nsv819271 11 5300130 5301189 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419164 S 2 1 0 OR51B2 AK1 nsv896931 11 5314457 5461725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513493 S 6533 0 1 OR51B5,OR51B6,OR51I1,OR51I2,OR51M1,OR51Q1 SP55789 esv268103 11 5319047 5319186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504868 S 157 1 0 Samples from several populations that are part of the HapMap project. OR51B5 NA19099 esv26010 11 5328586 5342419 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18784,esv18780,esv21298 M 451 29 0 OR51B5,OR51B6 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12828,NA12878,NA18508,NA18511,NA18523,NA18858,NA18861,NA18909,NA18916,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 dgv56n21 11 5329827 5330138 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521732,nsv525848 M 2026 0 2 OR51B5,OR51B6 nsv832057 11 5332161 5532776 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449008 S 95 0 1 OR51B5,OR51I1,OR51I2,OR51M1,OR51Q1,OR52D1,OR52H1,UBQLN3,UBQLNL esv997323 11 5339361 5340506 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586313 S 3 1 0 OR51B5 HuRef nsv896932 11 5349060 5380746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563351 S 6533 1 0 OR51B5,OR51M1 MS25966 nsv896933 11 5358891 5397196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590327 S 6533 1 0 OR51B5,OR51M1 IS38491 esv22160 11 5366370 5369185 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18235 S 451 0 2 OR51B5,OR51M1 NA07045,NA19129 essv3627 11 5373198 5448609 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR51B5,OR51I1,OR51I2,OR51Q1 NA18966 nsv896934 11 5383694 5406963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590743 S 6533 0 1 OR51B5,OR51Q1 IS38577 dgv1025n71 11 5383694 5449946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896937,nsv896936,nsv896935 M 6533 0 7 OR51B5,OR51I1,OR51I2,OR51Q1 SP51065,SP52264,SP52545,SP55451,SP58328,SP80928,SP81228 esv34391 11 5388560 5449885 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989152,essv6987727,essv6980165,essv6980164,essv6980163 M 771 0 1 OR51B5,OR51I1,OR51I2,OR51Q1 NA18966 esv9420 11 5415087 5416204 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31861 S 1 0 1 OR51B5 SJK nsv521722 11 5440401 5444172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694482 S 2026 1 0 OR51B5 nsv896938 11 5440825 5461725 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500708,nssv1504427 M 6533 2 0 OR51B5 SP50663,SP52475 nsv467669 11 5444172 5454375 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542882 S 1557 1 0 OR51B5 1780854129_A nsv896939 11 5454375 5766124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561469 S 6533 0 1 OR51B5,OR52B6,OR52D1,OR52H1,OR52N1,OR52N4,OR52N5,OR56B1,TRIM22,TRIM34,TRIM5,TRIM6,TRIM6-TRIM34,TRIM78P,UBQLN3,UBQLNL MS25025 dgv195n67 11 5478137 5479720 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825736,nsv825737 M 31 0 3 OR51B5 NA18566,NA18951,NA18972 esv4563 11 5478165 5479826 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27004 S 1 0 1 Single Asian sample YH OR51B5 YH nsv471745 11 5478227 5480332 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646026 M 0.439 95 OR51B5 esv21699 11 5478244 5479526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20454 S 451 0 6 OR51B5 NA06985,NA07037,NA12044,NA12156,NA12828,NA15510 nsv442597 11 5478747 5480169 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR51B5 nsv514621 11 5478767 5479579 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628082 S 1414 0 1 OR51B5 nsv510997 11 5479191 5531951 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622433 S 4 0 0 OR51B5,OR52H1,UBQLN3,UBQLNL NA10860 nsv896940 11 5491583 5539006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585598 S 6533 0 1 OR52H1,UBQLNL IS37573 nsv510238 11 5500381 5506381 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618335 S 4 0 1 "" CHM nsv507581 11 5511418 5517418 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617809 S 4 1 0 "" CHM esv259452 11 5527162 5527458 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394245,essv2393770,essv2394054,essv2394382 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv259752 11 5527166 5527471 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395803,essv2397315,essv2397714,essv2399249,essv2396474,essv2396129,essv2395073,essv2398845,essv2399429,essv2395333,essv2394907,essv2394440,essv2395885,essv2395464,essv2398173,essv2397155,essv2397749,essv2398743,essv2398362,essv2399527,essv2398015,essv2399667,essv2395950,essv2397092,essv2400495 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12004,NA12878,NA18502,NA18508,NA18517,NA18523,NA18571,NA18582,NA18858,NA18916,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18956,NA19005,NA19093,NA19137,NA19147,NA19210,NA19238,NA19239,NA19240 nsv825738 11 5534750 5535762 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436888 S 31 0 1 "" NA18542 esv999321 11 5534750 5535784 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586943 S 3 1 0 "" HuRef dgv1026n71 11 5539764 5554209 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896941,nsv896942 M 6533 2 0 "" MS25889,SP54937 dgv1027n71 11 5539764 5582179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv896943,nsv896944 M 6533 0 5 OR52B6,TRIM6,TRIM6-TRIM34 IS34762,IS36992,MS21059,MS21868,MS22322 nsv896945 11 5555440 5582179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557413 S 6533 0 1 OR52B6,TRIM6,TRIM6-TRIM34 MS22662 nsv896946 11 5575584 5596449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523846,nssv1541328 M 6533 0 2 TRIM6,TRIM6-TRIM34 MS15243,SP54226 nsv471746 11 5579804 5580758 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646027 M 0.021 95 TRIM6,TRIM6-TRIM34 nsv896947 11 5588548 5616256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519459 S 6533 0 1 TRIM34,TRIM6,TRIM6-TRIM34 SP81039 nsv825739 11 5592595 5595329 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430023,nssv1436889,nssv1434875,nssv1428515 M 31 0 4 TRIM6-TRIM34 AK10,AK14,NA18542,NA18592 nsv819802 11 5592608 5596455 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419582 S 2 0 1 TRIM6-TRIM34 AK1 esv2549687 11 5592974 5595820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372503 S 1 0 1 TRIM6-TRIM34 NA18507 nsv825740 11 5593947 5595329 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433861,nssv1424426,nssv1430793,nssv1441331,nssv1428791,nssv1429280,nssv1437645,nssv1436054,nssv1422809,nssv1435309,nssv1432281,nssv1433051,nssv1426922,nssv1439866 M 31 0 14 TRIM6-TRIM34 AK12,AK16,AK20,AK6,NA18526,NA18537,NA18552,NA18566,NA18582,NA18942,NA18947,NA18949,NA18969,NA18972 esv25239 11 5594077 5595733 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21210 S 451 0 6 TRIM6-TRIM34 NA11995,NA12287,NA18508,NA18916,NA19099,NA19257 nsv39158 11 5635464 5635464 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57736 M 24 TRIM78P nsv896948 11 5657857 5676243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546779 S 6533 0 1 TRIM22,TRIM5 MS17208 esv22319 11 5658334 5659109 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10293 S 451 0 1 TRIM5 NA18502 nsv896949 11 5667753 5679020 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519216 S 6533 0 1 TRIM22 SP80986 esv988030 11 5678067 5679516 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586454 S 3 1 0 TRIM22 HuRef esv29417 11 5678067 5679728 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18816,esv9769 M 451 0 6 TRIM22 NA07045,NA11894,NA12239,NA12414,NA18861,NA19099 dgv341e1 11 5686953 5927293 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10556,essv9640,essv6178,essv15337,essv15837 M 271 0 0 OR52E4,OR52E6,OR52E8,OR52N1,OR52N2,OR52N4,OR52N5,OR56A3,OR56B1,TRIM22 NA18532,NA18862,NA19141,NA19223,NA19240 nsv896950 11 5697210 5784116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536202 S 6533 1 0 OR52N1,OR52N4,OR52N5,OR56B1 MS12648 nsv832058 11 5704170 5883390 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449009,nssv1449010 M 95 2 0 OR52E4,OR52E6,OR52E8,OR52N1,OR52N2,OR52N4,OR52N5,OR56B1 esv989880 11 5714814 5721655 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564119 S 3 0 1 OR56B1 HuRef esv2640046 11 5716088 5719645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381700 S 1 0 1 "" NA18507 esv2347807 11 5716485 5719128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685602 S 1 0 1 "" NA18507 dgv196n67 11 5716615 5719117 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825743,nsv825741 M 31 0 22 "" AK14,AK16,AK2,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997 esv2905 11 5716630 5719050 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25346 S 1 0 1 Single Asian sample YH "" YH esv26592 11 5716659 5718948 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11956,esv11059 M 451 36 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19190,NA19240,NA19257 nsv821206 11 5716659 5719117 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420925 S 1 0 1 "" NA10851 nsv8783 11 5716660 5725487 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22790,nssv20587,nssv20009,nssv22003,nssv19833,nssv22544,nssv19516,nssv19496,nssv22021,nssv18052,nssv23273,nssv17710,nssv18984,nssv18049,nssv18902,nssv22272,nssv20818,nssv20319,nssv22677,nssv17891,nssv20588,nssv19915,nssv19536,nssv19640,nssv18185 M 31 25 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18552,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 nsv820291 11 5716697 5725479 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418555 S 2 1 0 "" AK1 esv33854 11 5716929 5718946 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93800,essv96833,essv100955,essv95127,essv94827,essv94076,essv94448,essv96888,essv97915,essv95658,essv95477,essv93154,essv95382,essv95854,essv94545,essv99051,essv93741,essv96217,essv97230,essv100110,essv95983,essv93345,essv99700,essv95038,essv98078,essv97625,essv100235,essv100617,essv96295 M 51 25 4 "" 21634,21659,21693,21721,21791,21802,21808,21817,21837,21841,21847,21863,21872,21911,21932,21938,21972,22007,22075,22086,22127,22170,22217,22231,22259,22278,22286,22298,22371 esv33342 11 5726946 5741060 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100647 S 51 0 1 OR52N4 21656 nsv896951 11 5730557 5788767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563352 S 6533 1 0 OR52N1,OR52N4,OR52N5 MS25966 dgv342e1 11 5733199 5783893 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8585,essv23325,essv8039,essv14949,essv13261,essv11395,essv24164,essv23729,essv8028,essv19333,essv5973,essv19869,essv13963 M 271 0 0 OR52N1,OR52N4,OR52N5 NA12234,NA12264,NA12751,NA12813,NA12872,NA18552,NA18871,NA19103,NA19130,NA19132,NA19160,NA19192,NA19201 nsv519652 11 5733786 5762091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673000,nssv677052,nssv657379,nssv681866 M 2026 0 4 OR52N5 dgv11n50 11 5733786 5766053 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512205,nsv511480 M 1 0 1 OR52N1,OR52N5 1 nsv65 11 5738669 5768809 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv65 S 1 0 1 OR52N1,OR52N5 NA15510 nsv7654 11 5738669 5782776 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10887,nssv9816,nssv5347 M 9 0 3 OR52N1,OR52N5 NA15510,NA18507,NA19129 nsv508616 11 5739550 5765325 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620166 S 4 0 1 OR52N5 NA15510 esv2507539 11 5739759 5766011 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375680 S 1 0 1 OR52N1,OR52N5 NA18507 dgv5n31 11 5740001 5765881 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471529,nsv471531 M 3 OR52N1,OR52N5 esv2631490 11 5740418 5766555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200886 S 1 0 1 OR52N1,OR52N5 NA18507 nsv435927 11 5740460 5766804 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466638 S 2 0 1 OR52N1,OR52N5 NA15510 esv2144298 11 5740970 5766018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936778 S 1 0 1 OR52N1,OR52N5 NA18507 nsv8784 11 5741059 5766354 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19878,nssv22819,nssv20848,nssv17770,nssv22033,nssv19670,nssv19546,nssv23301,nssv18932,nssv19526,nssv22051,nssv19863,nssv19834,nssv18215,nssv22706,nssv22574,nssv20618,nssv20349,nssv18142,nssv20617,nssv19815,nssv17921,nssv20039,nssv20207,nssv19566,nssv18139,nssv19945,nssv19014,nssv22302,nssv25031 M 31 29 1 Samples from several populations that are part of the HapMap project. OR52N1,OR52N5 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv33544 11 5741060 5765963 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101446,essv98795,essv97561,essv101245,essv93918,essv100805,essv96773,essv100920,essv98147,essv93983,essv101284,essv94352,essv96939,essv97918,essv95616,essv95550,essv93174,essv95369,essv97352,essv101690,essv95808,essv94573,essv99085,essv92977,essv92688,essv93598,essv96148,essv96588,essv97246,essv98621,essv99962,essv95957,essv93548,essv93272,essv99610,essv94880,essv92576,essv98127,essv96434,essv99271,essv97757,essv100125,essv99525,essv98483,essv96261,essv94183 M 51 45 1 OR52N1,OR52N5 21603,21606,21616,21618,21634,21656,21659,21693,21772,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22335,22352,22371,22394 nsv498749 11 5741149 5765861 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586417 S 9 0 1 OR52N1,OR52N5 nsv443001 11 5741151 5765859 CNV Loss Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649524 M 52 OR52N1,OR52N5 dgv20e180 11 5741252 5765851 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1007192,esv1011247 M 3 1 0 OR52N1,OR52N5 HuRef dgv197n67 11 5741252 5765861 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825744,nsv825748,nsv825747,nsv825746,nsv825745 M 31 0 13 OR52N1,OR52N5 AK10,AK12,AK18,AK4,NA18542,NA18552,NA18564,NA18570,NA18949,NA18951,NA18969,NA18972,NA18997 nsv821028 11 5741252 5765861 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420926 S 1 0 1 OR52N1,OR52N5 NA10851 nsv819430 11 5741271 5765938 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418698 S 2 1 0 OR52N1,OR52N5 AK1 esv28265 11 5741435 5765861 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14103 S 451 38 0 OR52N1,OR52N5 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514624 11 5741451 5765818 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628083 S 1414 0 1 OR52N1,OR52N5 nsv433514 11 5741599 5755246 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463395 S 9 0 1 "" NA15510 esv2421614 11 5741599 5766053 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053972,essv5088322,essv5139326,essv5075362,essv5127945,essv5075416,essv5039492,essv5143601,essv5136509,essv5156631,essv5026380,essv5131845,essv5025374,essv5016983,essv5099971,essv5127410,essv5147034,essv5155098,essv5099402,essv5069322,essv5069970,essv5025327,essv5151317,essv5124404,essv5028067,essv5124311,essv5015614,essv5156390,essv5022522,essv5130748,essv5039995,essv5078692,essv5017695,essv5039802,essv5022415,essv5151600,essv5099359,essv5125146,essv5034407,essv5094347,essv5101920,essv5009811,essv5064541,essv5136654,essv5110285,essv5127003,essv5035617,essv5006082,essv5021455,essv5022168,essv5003091,essv5081257,essv5030259,essv5154839,essv5090285,essv5108112,essv5107865,essv5017033,essv5077249,essv5098042,essv5141432,essv5008960,essv5081118,essv5056341,essv5154680,essv5093129,essv5096792,essv5129729,essv5028834,essv5075911,essv5082215,essv5111362,essv5046865,essv5159989,essv5014201,essv5103918,essv5091527,essv5088976,essv5026236,essv5132649,essv5035637,essv5020159,essv5034904,essv5041977,essv5146972,essv5082608,essv5079737,essv5127888,essv5046188,essv5077909,essv5112308,essv5092471,essv5032968,essv5133308,essv5017130,essv5129370,essv5018082,essv5013550,essv5060707,essv5075866,essv5086733,essv5048135,essv5072178,essv5083288,essv5152801,essv5134183,essv5118142,essv5015487,essv5062133,essv5053490,essv5123228,essv5069633,essv5092480,essv5074007,essv5105082,essv5020624,essv5104477,essv5100667,essv5074058,essv5078712,essv5128860,essv5126229,essv5105644,essv5007651,essv5120712,essv5121991,essv5067415,essv5053146,essv5116788,essv5144521,essv5110541,essv5141218,essv5099777,essv5126475,essv5049935,essv5138590,essv5097683,essv5065537,essv5085416,essv5042682,essv5091641,essv5095754,essv5102532,essv5021680,essv5146026,essv5148208,essv5123571,essv5105065,essv5006721,essv5149156,essv5133541,essv5039068,essv5053756,essv5063817,essv5133418,essv5091302,essv5106635,essv5144427,essv5126092,essv5051096,essv5144640,essv5144359,essv5015140,essv5059247,essv5111970,essv5065626,essv5051632,essv5125258,essv5046337,essv5136878,essv5156746,essv5110873,essv5099925,essv5062227,essv5010644,essv5141719,essv5023831,essv5017855,essv5097711,essv5149347,essv5063889,essv5050881,essv5121986,essv5034148,essv5144072,essv5022490,essv5135818,essv5061657,essv5099103,essv5092494,essv5125256,essv5055804,essv5029720,essv5041288,essv5095971,essv5009126,essv5126120,essv5140717,essv5032319,essv5149199,essv5130589,essv5005536,essv5007679,essv5093941,essv5148494,essv5113290,essv5147745,essv5026642,essv5112520,essv5041106,essv5017278,essv5054765,essv5015323,essv5058142,essv5049718,essv5060263,essv5066851,essv5116321,essv5155972,essv5002387,essv5098991,essv5085090,essv5145271,essv5044052,essv5109683,essv5147975,essv5136965,essv5062049,essv5159435,essv5061898,essv5052896,essv5014862,essv5058652,essv5123875,essv5104594,essv5066753,essv5127314,essv5105532,essv5146320,essv5124520,essv5152353,essv5118778,essv5145944,essv5038312,essv5006855,essv5059467,essv5144061,essv5153834,essv5085563,essv5027020,essv5026199,essv5106126,essv5034532,essv5020708,essv5009193,essv5113838,essv5050942,essv5056854,essv5115739,essv5111258,essv5023681,essv5092896,essv5050263,essv5147141,essv5039186,essv5051557,essv5093222,essv5017620,essv5047651,essv5098005,essv5120773,essv5127440,essv5025692,essv5059341,essv5058320,essv5089974,essv5129174,essv5152173,essv5131685,essv5065542,essv5057630,essv5133584,essv5119551,essv5055122,essv5084708,essv5060389,essv5157977,essv5042570,essv5158314,essv5014886,essv5056656,essv5087025,essv5034521,essv5074041,essv5037793,essv5014445,essv5060736,essv5108735,essv5111093,essv5040039,essv5117567,essv5089373,essv5084404,essv5067179,essv5095817,essv5069735,essv5129571,essv5095458,essv5003825,essv5061157,essv5041479,essv5020380,essv5036939,essv5005683,essv5047615,essv5036990,essv5109160,essv5054428,essv5117002,essv5144817,essv5059001,essv5159927,essv5134412,essv5114784,essv5012986,essv5037078,essv5154170,essv5106568,essv5146164,essv5008486,essv5051596,essv5051541,essv5043988,essv5035925,essv5021508,essv5110975,essv5091776,essv5148427,essv5135419,essv5161113,essv5086521,essv5084959,essv5009455,essv5132710,essv5066810,essv5043708,essv5144127,essv5124750,essv5090351,essv5019828,essv5155687,essv5101360,essv5015779,essv5002452,essv5141019,essv5156833,essv5025841,essv5114253,essv5141587,essv5043101,essv5082164,essv5150390,essv5128191,essv5077368,essv5050552,essv5109993,essv5114316,essv5051787,essv5149336,essv5101213,essv5081063,essv5137585,essv5117753,essv5080723,essv5027793,essv5027388,essv5017679,essv5016263,essv5115310,essv5051683,essv5090323,essv5030918,essv5075270,essv5130805,essv5125629,essv5123804,essv5051649,essv5028073,essv5049287,essv5082038,essv5007744,essv5012572,essv5065706,essv5095276,essv5160174,essv5059895,essv5095018,essv5070255,essv5025777,essv5127299,essv5147065,essv5102319,essv5005330,essv5107679,essv5154599,essv5030105,essv5001992,essv5084046,essv5094530,essv5016586,essv5091336,essv5096668,essv5034020,essv5121636,essv5127039,essv5099808,essv5010089,essv5019813,essv5078609,essv5042366,essv5002580,essv5128091,essv5071705,essv5096829,essv5097165,essv5082559,essv5104165,essv5072338,essv5029546,essv5003335,essv5072840,essv5125613,essv5007137,essv5039150,essv5127372,essv5099099,essv5099178,essv5100137,essv5088921,essv5147716,essv5135911,essv5139365,essv5068201,essv5028671,essv5058690,essv5078525,essv5151929,essv5080854,essv5085107,essv5113896,essv5039342,essv5145219,essv5078222,essv5160230,essv5125953,essv5089941,essv5103368,essv5123839,essv5153907,essv5032136,essv5016454,essv5144046,essv5060452,essv5052377,essv5053101,essv5066154,essv5100331,essv5143575,essv5113303,essv5100083,essv5135053,essv5131707,essv5135257,essv5118437,essv5072574,essv5058567,essv5136772,essv5113523,essv5103488,essv5082005,essv5095653,essv5147951,essv5082150,essv5062957,essv5025737,essv5005664,essv5141244,essv5117826,essv5075220,essv5019092,essv5011729,essv5073252 M 1184 0 492 OR52N1,OR52N5 NA06985,NA06986,NA06989,NA06997,NA07045,NA10837,NA10838,NA10840,NA10845,NA10846,NA10850,NA10854,NA10861,NA10863,NA11839,NA11840,NA11930,NA11931,NA11993,NA11994,NA11995,NA12003,NA12056,NA12057,NA12144,NA12146,NA12155,NA12234,NA12239,NA12264,NA12272,NA12273,NA12282,NA12283,NA12286,NA12341,NA12347,NA12413,NA12708,NA12716,NA12718,NA12739,NA12740,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12767,NA12776,NA12778,NA12812,NA12813,NA12828,NA12832,NA12842,NA12843,NA12872,NA12874,NA12877,NA12889,NA17967,NA17974,NA17975,NA17979,NA17982,NA17983,NA17989,NA17990,NA17998,NA17999,NA18105,NA18107,NA18109,NA18114,NA18118,NA18122,NA18124,NA18125,NA18127,NA18132,NA18135,NA18136,NA18143,NA18147,NA18149,NA18151,NA18152,NA18155,NA18157,NA18158,NA18160,NA18161,NA18166,NA18485,NA18486,NA18489,NA18497,NA18499,NA18501,NA18507,NA18509,NA18510,NA18511,NA18518,NA18519,NA18529,NA18534,NA18544,NA18552,NA18564,NA18570,NA18572,NA18576,NA18577,NA18594,NA18596,NA18599,NA18602,NA18605,NA18609,NA18610,NA18611,NA18613,NA18614,NA18617,NA18619,NA18620,NA18621,NA18628,NA18632,NA18634,NA18638,NA18639,NA18641,NA18647,NA18674,NA18685,NA18748,NA18853,NA18855,NA18870,NA18871,NA18872,NA18873,NA18875,NA18917,NA18933,NA18934,NA18935,NA18940,NA18946,NA18951,NA18954,NA18959,NA18962,NA18963,NA18966,NA18972,NA18976,NA18977,NA18990,NA18995,NA19005,NA19009,NA19010,NA19027,NA19036,NA19038,NA19046,NA19057,NA19058,NA19060,NA19070,NA19075,NA19077,NA19079,NA19095,NA19097,NA19101,NA19103,NA19107,NA19117,NA19128,NA19129,NA19130,NA19132,NA19137,NA19141,NA19142,NA19143,NA19146,NA19152,NA19159,NA19160,NA19161,NA19172,NA19175,NA19176,NA19178,NA19181,NA19182,NA19183,NA19184,NA19189,NA19192,NA19197,NA19198,NA19199,NA19201,NA19202,NA19206,NA19210,NA19221,NA19222,NA19225,NA19226,NA19235,NA19236,NA19237,NA19239,NA19247,NA19248,NA19249,NA19311,NA19313,NA19314,NA19371,NA19372,NA19373,NA19377,NA19382,NA19383,NA19394,NA19396,NA19403,NA19404,NA19428,NA19429,NA19434,NA19435,NA19440,NA19443,NA19444,NA19446,NA19448,NA19455,NA19456,NA19462,NA19466,NA19467,NA19471,NA19472,NA19625,NA19650,NA19651,NA19652,NA19654,NA19658,NA19659,NA19660,NA19662,NA19664,NA19665,NA19675,NA19678,NA19679,NA19682,NA19701,NA19703,NA19705,NA19713,NA19714,NA19722,NA19724,NA19726,NA19727,NA19746,NA19747,NA19755,NA19759,NA19760,NA19761,NA19763,NA19770,NA19772,NA19773,NA19777,NA19778,NA19779,NA19780,NA19781,NA19795,NA19818,NA19828,NA19900,NA19983,NA19985,NA20126,NA20127,NA20128,NA20276,NA20300,NA20322,NA20332,NA20333,NA20340,NA20341,NA20342,NA20343,NA20344,NA20350,NA20357,NA20360,NA20504,NA20506,NA20508,NA20509,NA20510,NA20517,NA20518,NA20519,NA20520,NA20521,NA20525,NA20527,NA20529,NA20530,NA20534,NA20540,NA20543,NA20544,NA20753,NA20754,NA20756,NA20757,NA20760,NA20761,NA20765,NA20766,NA20775,NA20783,NA20785,NA20787,NA20795,NA20796,NA20797,NA20801,NA20803,NA20804,NA20807,NA20815,NA20818,NA20828,NA20845,NA20847,NA20850,NA20851,NA20853,NA20861,NA20866,NA20871,NA20875,NA20876,NA20883,NA20884,NA20885,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20899,NA20900,NA20903,NA20907,NA20911,NA21086,NA21088,NA21090,NA21091,NA21098,NA21099,NA21100,NA21102,NA21106,NA21107,NA21113,NA21115,NA21141,NA21142,NA21144,NA21297,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21318,NA21320,NA21336,NA21339,NA21352,NA21355,NA21357,NA21360,NA21362,NA21363,NA21365,NA21366,NA21371,NA21381,NA21382,NA21384,NA21385,NA21388,NA21389,NA21391,NA21400,NA21401,NA21408,NA21414,NA21415,NA21423,NA21425,NA21434,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21448,NA21451,NA21473,NA21475,NA21476,NA21477,NA21478,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21491,NA21509,NA21512,NA21517,NA21519,NA21526,NA21528,NA21529,NA21576,NA21578,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21611,NA21613,NA21616,NA21617,NA21620,NA21631,NA21632,NA21635,NA21650,NA21678,NA21682,NA21686,NA21719,NA21723,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776 nsv825749 11 5742899 5743414 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429282 S 31 0 1 "" AK12 dgv343e1 11 5743360 5765806 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5672,essv4209,essv8657,essv7659,essv20709,essv5072,essv19143,essv13378,essv5891,essv13410,essv20539,essv23710,essv18579 M 271 0 0 OR52N1,OR52N5 NA10851,NA11995,NA12740,NA12752,NA12812,NA18570,NA18576,NA18605,NA18609,NA18632,NA18872,NA19101,NA19159 dgv344e1 11 5743360 5776193 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18676,essv2392,essv1072,essv24215,essv2367,essv17408,essv102,essv14001,essv21591,essv10506,essv6092,essv11352,essv9280,essv15965,essv22731,essv21572,essv21104,essv14674,essv12431,essv6788,essv25151,essv19481,essv17384,essv21904,essv6514,essv21922,essv14901,essv23755,essv24640,essv727,essv16377,essv20504,essv18891,essv5962,essv7991,essv2429,essv8074,essv21639,essv2112,essv25185,essv2960 M 271 0 0 OR52N1,OR52N5 NA10838,NA10846,NA10854,NA11839,NA11840,NA11994,NA12056,NA12057,NA12144,NA12146,NA12155,NA12239,NA12717,NA12750,NA12760,NA12761,NA12874,NA18572,NA18577,NA18594,NA18621,NA18855,NA18940,NA18951,NA18959,NA18972,NA18976,NA18990,NA18995,NA19005,NA19128,NA19129,NA19137,NA19142,NA19143,NA19145,NA19152,NA19161,NA19172,NA19221,NA19222 essv14800 11 5743360 5798932 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR52N1,OR52N2,OR52N5 NA18870 nsv442598 11 5744656 5765715 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR52N1,OR52N5 dgv198n67 11 5755572 5756280 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825750,nsv825751 M 31 2 0 OR52N5 NA18969,NA18997 nsv471361 11 5765662 5766622 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548071,nssv548072 M 3 OR52N1 esv32705 11 5765963 5766765 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99812 S 51 1 0 OR52N1 22086 nsv517591 11 5768542 5778149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652452,nssv671741 M 2026 0 2 "" nsv896952 11 5788767 5849952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509467 S 6533 0 1 OR52E6,OR52E8,OR52N2 SP54792 nsv515929 11 5797644 5798432 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652108,nssv652760,nssv689062 M 2026 0 3 OR52N2 nsv8785 11 5799315 5800942 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20647 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv515489 11 5819108 5891679 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691247,nssv653296,nssv678292,nssv690559,nssv680107 M 2026 5 0 OR52E4,OR52E6,OR52E8 dgv1028n71 11 5819108 5911385 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896953,nsv896955 M 6533 129 0 OR52E4,OR52E6,OR52E8 IS34059,IS37591,IS38176,IS38840,MS10375,MS10429,MS10722,MS11165,MS11487,MS11505,MS11525,MS11550,MS12003,MS12149,MS12506,MS13253,MS13408,MS13561,MS13712,MS13758,MS13770,MS13777,MS14222,MS14295,MS14396,MS14779,MS14961,MS14986,MS15117,MS15168,MS15218,MS15312,MS15453,MS15545,MS15737,MS15926,MS15940,MS15952,MS16125,MS16152,MS16376,MS16609,MS17028,MS17335,MS17674,MS17806,MS17911,MS18101,MS18124,MS18226,MS18715,MS19334,MS19340,MS19365,MS19489,MS19736,MS20334,MS20698,MS20967,MS21136,MS21340,MS21428,MS21528,MS21677,MS21700,MS21840,MS21841,MS22327,MS23008,MS23163,MS23205,MS23758,MS23796,MS23958,MS24010,MS24390,MS24854,MS25121,MS25216,MS25254,MS25284,MS25696,MS25963,SP50177,SP50552,SP50554,SP50580,SP50623,SP50633,SP50839,SP51143,SP51197,SP51203,SP51221,SP51235,SP51265,SP52187,SP52454,SP52523,SP52553,SP52633,SP52651,SP52704,SP53260,SP53332,SP53516,SP53988,SP54227,SP54905,SP54993,SP55126,SP55352,SP56690,SP56731,SP57044,SP57105,SP57717,SP57723,SP58182,SP58505,SP58536,SP81080,SP81158,SP81280,SP81351,SP81485,SP81505,SP81526,SP81534 esv1482756 11 5822064 5822064 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886175 S 2 1 0 "" HuRef dgv345e1 11 5824631 5964189 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1292,essv189,essv4107,essv5678 M 271 0 0 OR52E4,OR52E8,OR52L1,OR56A3,OR56A5 NA18529,NA18605,NA18980,NA18994 essv4941 11 5824737 5890620 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR52E4,OR52E8 NA18537 nsv8786 11 5827813 5904997 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19845,nssv22848,nssv23329,nssv22332,nssv19700,nssv22081,nssv20069,nssv19975,nssv25056 M 31 3 6 Samples from several populations that are part of the HapMap project. OR52E4,OR52E8 NA18502,NA18537,NA18853,NA18860,NA18972,NA18980,NA19173,NA19221,NA19240 dgv130n27 11 5828407 5891679 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467674,nsv467676,nsv467671,nsv467677,nsv467678,nsv467675,nsv467673 M 1557 7 0 OR52E4,OR52E8 HGDP00544,HGDP00753,HGDP00774,HGDP00786,HGDP01102,HGDP01213,HGDP01355 dgv1029n71 11 5828407 5904785 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896960,nsv896954,nsv896958,nsv896959 M 6533 31 0 OR52E4,OR52E8 MS20708,SP50855,SP51069,SP51140,SP51422,SP51469,SP52139,SP52161,SP52338,SP52531,SP53601,SP53791,SP53894,SP54196,SP54345,SP54967,SP54979,SP54983,SP55663,SP55763,SP55971,SP56003,SP56022,SP56086,SP56304,SP56458,SP56833,SP57009,SP57021,SP57404,SP80988 nsv442600 11 5828813 5839893 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR52E8 nsv7655 11 5830018 5844580 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv990 S 9 0 1 OR52E8 NA19240 nsv498750 11 5830560 5840075 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586428 S 9 0 1 OR52E8 nsv443002 11 5830561 5840069 CNV Loss Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649525 M 52 OR52E8 esv22550 11 5830721 5840040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20579 S 451 0 5 OR52E8 NA18502,NA19099,NA19147,NA19240,NA19257 nsv433515 11 5832443 5834485 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463396 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2421670 11 5832443 5839893 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022983,essv5066691,essv5085980,essv5133745,essv5069625,essv5115269,essv5075644,essv5063541,essv5056219,essv5118396,essv5043905,essv5139317,essv5084007,essv5023880,essv5046722,essv5147013,essv5121692,essv5129290,essv5074483,essv5140505,essv5156073,essv5134792,essv5011341,essv5015384,essv5044237,essv5111401,essv5144274,essv5100022,essv5064180,essv5041466,essv5090059,essv5016701,essv5063007,essv5136452,essv5128745,essv5097906,essv5013733,essv5144911,essv5102895,essv5121045,essv5087386,essv5089592,essv5127255,essv5127502,essv5152038,essv5088336,essv5027338,essv5123368,essv5043769,essv5061841,essv5064430,essv5112409,essv5064139,essv5113039,essv5139318,essv5072945,essv5047871,essv5069629,essv5015025,essv5104646,essv5109802,essv5138694,essv5154652,essv5103898,essv5146500,essv5107006,essv5138150,essv5102321,essv5087861,essv5100060,essv5010207,essv5155237,essv5139337,essv5082762,essv5108988,essv5132181,essv5064581,essv5134585,essv5139006,essv5107126,essv5095244,essv5104210,essv5139409,essv5055704,essv5081227,essv5059153,essv5127931,essv5094183,essv5148510,essv5113582,essv5069094,essv5026509,essv5005354,essv5066329,essv5029759,essv5098299,essv5057720,essv5115547,essv5007701,essv5040353,essv5117730,essv5103291,essv5111992,essv5110664,essv5073840,essv5026970,essv5078829,essv5092470,essv5088928,essv5140213,essv5013334,essv5003261,essv5002057,essv5095510,essv5120838,essv5111328,essv5020905,essv5051614,essv5117554,essv5143388,essv5139618,essv5086273,essv5034740,essv5102104,essv5046600,essv5089190,essv5102847,essv5128173,essv5032913,essv5048604,essv5070040,essv5057898,essv5126740,essv5126145,essv5091176,essv5061538,essv5040792,essv5061364,essv5069285,essv5139851,essv5012936,essv5031102,essv5110576,essv5095352,essv5028913,essv5032376,essv5095459,essv5102261,essv5081467,essv5045175,essv5105969,essv5031170,essv5145727,essv5066780,essv5114445,essv5126052,essv5077965,essv5132439,essv5029768,essv5106929,essv5078237,essv5066270,essv5127315,essv5105108,essv5155222,essv5020421,essv5013687,essv5097516,essv5131740,essv5084099,essv5103140,essv5123414,essv5036480,essv5034212,essv5079051,essv5039372,essv5132567,essv5035115,essv5158973,essv5085387,essv5011006,essv5084331,essv5065970,essv5147457,essv5051360,essv5004968,essv5045948,essv5105544,essv5005983,essv5119919,essv5056252 M 1184 0 191 OR52E8 NA18485,NA18487,NA18498,NA18500,NA18501,NA18509,NA18853,NA18854,NA18855,NA18857,NA18859,NA18860,NA18862,NA18863,NA18868,NA18869,NA18910,NA18913,NA18923,NA18933,NA19028,NA19044,NA19094,NA19098,NA19099,NA19102,NA19103,NA19118,NA19119,NA19120,NA19128,NA19130,NA19138,NA19141,NA19142,NA19147,NA19150,NA19171,NA19173,NA19174,NA19176,NA19181,NA19183,NA19184,NA19185,NA19186,NA19197,NA19199,NA19200,NA19204,NA19210,NA19211,NA19214,NA19221,NA19223,NA19235,NA19238,NA19239,NA19240,NA19256,NA19257,NA19258,NA19308,NA19310,NA19311,NA19314,NA19315,NA19316,NA19318,NA19319,NA19321,NA19324,NA19346,NA19350,NA19372,NA19373,NA19379,NA19383,NA19390,NA19404,NA19434,NA19437,NA19439,NA19444,NA19448,NA19456,NA19457,NA19463,NA19466,NA19467,NA19469,NA19470,NA19472,NA19473,NA19711,NA19712,NA19714,NA19755,NA19818,NA19819,NA19985,NA20279,NA20282,NA20284,NA20287,NA20288,NA20302,NA20317,NA20319,NA20322,NA20333,NA20337,NA20346,NA20347,NA20348,NA20350,NA20357,NA21295,NA21300,NA21303,NA21312,NA21314,NA21320,NA21336,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21364,NA21367,NA21371,NA21390,NA21391,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21423,NA21424,NA21425,NA21434,NA21435,NA21447,NA21451,NA21457,NA21473,NA21476,NA21486,NA21487,NA21491,NA21509,NA21512,NA21513,NA21517,NA21519,NA21520,NA21521,NA21523,NA21524,NA21525,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21587,NA21596,NA21599,NA21600,NA21601,NA21613,NA21619,NA21620,NA21631,NA21634,NA21647,NA21648,NA21683,NA21686,NA21717,NA21723,NA21738,NA21740 nsv514627 11 5832680 5839355 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628084 S 1414 0 0 OR52E8 dgv1030n71 11 5834485 5878469 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896957,nsv896956 M 6533 18 0 OR52E4,OR52E8 SP50179,SP50593,SP51460,SP52019,SP52195,SP52377,SP54350,SP54769,SP55131,SP55469,SP55551,SP55690,SP55791,SP57269,SP57545,SP80953,SP80986,SP81003 esv2515001 11 5841305 5842275 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201491 S 1 1 0 "" NA18507 esv274490 11 5841692 5841801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580724 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268008 11 5841695 5842020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558129,essv2565800,essv2540713,essv2546168,essv2521430,essv2536601,essv2522967,essv2543812,essv2571007,essv2523170,essv2577397,essv2570501,essv2548184,essv2525229,essv2535466,essv2554311,essv2520387,essv2529154,essv2558317,essv2578047,essv2559566,essv2565218,essv2564140,essv2554978,essv2537226,essv2528245,essv2546636,essv2551890,essv2532210,essv2536991,essv2561543,essv2523518,essv2541258,essv2542994,essv2540511,essv2524544,essv2560980,essv2568016,essv2528652,essv2541652,essv2570151,essv2563617,essv2535666,essv2551093,essv2527837,essv2573159,essv2555331,essv2533471,essv2555793,essv2566610,essv2534242,essv2531285,essv2577144,essv2529650,essv2526527,essv2568676,essv2538053,essv2548923,essv2563330 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11920,NA11931,NA11992,NA11993,NA12004,NA12043,NA12044,NA12045,NA12156,NA12249,NA12287,NA12716,NA12749,NA12750,NA12761,NA12776,NA12812,NA12828,NA12872,NA12878,NA12891,NA12892,NA18504,NA18505,NA18517,NA18523,NA18537,NA18545,NA18550,NA18552,NA18555,NA18562,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18858,NA18907,NA18942,NA18943,NA18944,NA18945,NA18948,NA18959,NA18961,NA18970,NA19093,NA19114,NA19147 esv1437906 11 5841725 5841725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217150 S 2 1 0 "" HuRef nsv442217 11 5842285 5892086 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR52E4 dgv346e1 11 5842287 5890620 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7509,essv6536 M 271 0 0 OR52E4 NA18532,NA18611 dgv39e55 11 5842287 5890620 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34213,esv34360 M 771 2 0 OR52E4 NA18532,NA18611 essv5015 11 5842287 5911385 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR52E4 NA18571 dgv40e55 11 5842287 5925761 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34778,esv34821 M 771 2 0 OR52E4,OR56A3 NA18571,NA18994 nsv825752 11 5848730 5850167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430026 S 31 0 1 "" AK14 nsv825754 11 5848730 5902974 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439868 S 31 1 0 OR52E4 NA18537 nsv896961 11 5849952 5878469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514051 S 6533 1 0 OR52E4 SP55911 dgv1031n71 11 5849952 5896482 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896966,nsv896963,nsv896962,nsv896968 M 6533 15 0 OR52E4 MS22322,SP50066,SP50125,SP50954,SP51118,SP54544,SP54680,SP55677,SP55787,SP55835,SP56196,SP57027,SP57485,SP58007,SP81015 nsv469935 11 5856461 5891678 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546068,nssv546064,nssv546069,nssv546071,nssv546066,nssv546067,nssv546070 M 443 7 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR52E4 HGDP00544,HGDP00714,HGDP00948,HGDP01188,HGDP01213,HGDP01321,HGDP01322 dgv131n27 11 5856461 5891679 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467681,nsv467680,nsv467696,nsv467679,nsv467689,nsv467682,nsv467687,nsv467685,nsv467684,nsv467686,nsv467688 M 1557 11 0 OR52E4 HGDP00714,HGDP00778,HGDP00945,HGDP00948,HGDP00954,HGDP01099,HGDP01188,HGDP01195,HGDP01198,HGDP01289,HGDP01347 nsv818796 11 5856461 5891679 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417677,nssv1417107,nssv1417133 M 112 3 0 OR52E4 NA18529,NA18537,NA18994 dgv1032n71 11 5856461 5911385 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv896967,nsv896964,nsv896969 M 6533 34 0 OR52E4 IS31879,MS11312,MS12092,MS13254,MS14658,MS16415,MS16926,MS17898,MS17986,MS18205,MS18537,MS18752,MS19700,MS20632,MS20771,MS22321,MS23587,MS24605,MS25259,SP50555,SP50661,SP52193,SP52332,SP52376,SP53802,SP54110,SP54217,SP55304,SP57734,SP81149,SP81172,SP81243,SP81263,SP81383 dgv132n27 11 5856461 5916333 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467693,nsv467695,nsv467691,nsv467690,nsv467692 M 1557 5 0 OR52E4 HGDP00968,HGDP01097,HGDP01194,HGDP01321,HGDP01322 nsv896965 11 5858528 5878798 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504507 S 6533 1 0 OR52E4 SP52543 nsv471362 11 5862099 5863035 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548073 S 3 OR52E4 esv33818 11 5877705 5920377 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93357,essv99362 M 51 1 1 "" 22170,22335 nsv518271 11 6007893 6008387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695703 S 2026 0 1 "" esv29750 11 6033575 6079096 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19708,esv10302,esv19847,esv16086,esv20293,esv12330,esv9953 M 451 23 0 "" NA07045,NA11894,NA11993,NA11995,NA12044,NA12156,NA12287,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv467697 11 6101574 6121276 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542909 S 1557 0 1 "" 1782681080_A nsv522884 11 6101574 6121276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698540 S 2026 0 1 "" nsv896970 11 6129576 6173728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571629 S 6533 1 0 OR52B2 IS32761 nsv523933 11 6129922 6160892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699779 S 2026 0 1 OR52B2 esv28312 11 6146286 6149672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16796 S 451 0 2 OR52B2 NA19129,NA19147 esv2421684 11 6146379 6149038 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046309,essv5005787,essv5151025,essv5122142,essv5110783,essv5114424,essv5146797,essv5022691,essv5035179,essv5044806,essv5082853,essv5066807,essv5144057 M 1184 0 13 OR52B2 NA18489,NA18503,NA18504,NA19128,NA19129,NA19144,NA19147,NA19159,NA19161,NA19204,NA19239,NA19314,NA20276 nsv7656 11 6239680 6284402 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8876 S 9 0 1 CCKBR NA12156 nsv528149 11 6256592 6258189 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704696 S 2026 0 1 "" nsv522558 11 6256592 6263056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705940 S 2026 0 1 "" nsv519454 11 6292138 6311592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696862 S 2026 0 1 PRKCDBP esv269238 11 6316229 6316564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525840,essv2554935,essv2530867,essv2561935,essv2520785,essv2523846,essv2524631,essv2534952,essv2561184,essv2549342,essv2522070,essv2532608,essv2567714,essv2553434,essv2573105,essv2530122,essv2527457,essv2547881 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11918,NA12872,NA12873,NA12874,NA18498,NA18537,NA18555,NA18561,NA18562,NA18564,NA18571,NA18576,NA18577,NA18605,NA18942,NA18949,NA18952 nsv515990 11 6466820 6479380 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665607,nssv703812,nssv669741 M 2026 0 3 DNHD1 esv25728 11 6476716 6477282 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16461 S 451 0 1 DNHD1 NA12414 esv2422684 11 6556765 6558350 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299610 S 1 0 1 "" NA18507 esv2099180 11 6557248 6557832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572629 S 1 0 1 "" NA18507 nsv825755 11 6569804 6634420 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439111 S 31 1 0 DCHS1,ILK,RRP8,TAF10,TPP1 NA18973 esv996362 11 6575373 6590228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564994 S 3 0 1 ILK,RRP8,TAF10 HuRef nsv819272 11 6578372 6578659 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419714 S 2 0 1 RRP8 AK1 nsv896971 11 6578794 6593811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510001 S 6533 0 1 ILK,RRP8,TAF10,TPP1 SP54956 nsv896972 11 6585618 6593811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511210 S 6533 0 1 ILK,TAF10,TPP1 SP55019 esv24387 11 6632745 6634841 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12605 S 451 1 0 DCHS1 NA12044 nsv7658 11 6638398 6671322 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv991 S 9 1 0 MRPL17 NA19240 nsv832060 11 6641224 6831133 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449012,nssv1449011 M 95 2 0 GVINP1,MRPL17,OR10A5,OR2AG1,OR2AG2,OR6A2 nsv819468 11 6693722 6693930 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419203 S 2 0 1 GVINP1 AK1 nsv467701 11 6735647 6849442 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542910 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR10A2,OR10A5,OR2AG1,OR2AG2,OR6A2 HGDP00807 nsv832061 11 6825744 7027648 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449013 S 95 0 1 NLRP14,OR10A2,OR10A4,OR2D2,OR2D3,ZNF214,ZNF215 esv23304 11 6838114 6838564 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10954 S 451 1 1 "" NA12878,NA19147 nsv821500 11 6838114 6838564 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420927 S 1 0 1 "" NA10851 nsv825756 11 6853784 6867254 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426924 S 31 0 1 OR10A4 AK6 nsv896973 11 6888972 6938064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567028 S 6533 0 1 OR2D3,ZNF215 IS31041 esv2557168 11 6912333 6913794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370533 S 1 0 1 ZNF215 NA18507 nsv896974 11 6925932 6957582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519389 S 6533 0 1 ZNF215 SP81014 nsv525706 11 6943002 6969490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701867 S 2026 0 1 "" nsv518745 11 6949653 6961470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696194 S 2026 0 1 "" nsv523646 11 6949653 6961470 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699447 S 2026 1 0 "" nsv520634 11 6957582 6961470 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685659,nssv673391 M 2026 2 0 "" esv2617222 11 7022699 7024069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380226 S 1 0 1 NLRP14 NA18507 esv274401 11 7049339 7049687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580190,essv2580267,essv2579823 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv267656 11 7049347 7049681 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558050,essv2576065,essv2546388,essv2521432,essv2526257,essv2542257,essv2522795,essv2543987,essv2570773,essv2556674,essv2545354,essv2577257,essv2570525,essv2548592,essv2550585,essv2525258,essv2535008,essv2552228,essv2520578,essv2547140,essv2558504,essv2564721,essv2577978,essv2559439,essv2565241,essv2564217,essv2555070,essv2561747,essv2528244,essv2546881,essv2540006,essv2557437,essv2557119,essv2551693,essv2532179,essv2569584,essv2578506,essv2558714,essv2537078,essv2539223,essv2569855,essv2561635,essv2544967,essv2563077,essv2523744,essv2552860,essv2541112,essv2538222,essv2542813,essv2540531,essv2524644,essv2565163,essv2534955,essv2561059,essv2539696,essv2549384,essv2519500,essv2559907,essv2522261,essv2566225,essv2532531,essv2567672,essv2528900,essv2567509,essv2541756,essv2570138,essv2563938,essv2553414,essv2535815,essv2572279,essv2559139,essv2566970,essv2551037,essv2568914,essv2543537,essv2556262,essv2527795,essv2562275,essv2533895,essv2578259,essv2573057,essv2555248,essv2533585,essv2555599,essv2567258,essv2566413,essv2530173,essv2573842,essv2527485,essv2556088,essv2531370,essv2573664,essv2543233,essv2577137,essv2572082,essv2525618,essv2527014,essv2529837,essv2575684,essv2575244,essv2560681,essv2574635,essv2530453,essv2572714,essv2560502,essv2549664,essv2546111,essv2536298,essv2533000,essv2554746,essv2547782,essv2525016,essv2563114 M 157 113 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA12003,NA12043,NA12044,NA12045,NA12155,NA12156,NA12249,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12776,NA12812,NA12828,NA12872,NA12874,NA12891,NA12892,NA18489,NA18499,NA18501,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19116,NA19138,NA19141,NA19143,NA19190,NA19225,NA19239 nsv821051 11 7091007 7093000 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420928 S 1 0 1 "" NA10851 nsv825757 11 7091007 7093591 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440542,nssv1437648,nssv1441335 M 31 0 3 "" NA18564,NA18949,NA18969 esv29625 11 7091182 7093314 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20189,esv16531 M 451 36 0 "" NA06985,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv825758 11 7092027 7093053 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436056 S 31 1 0 "" NA18566 nsv818797 11 7152914 7154630 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415994 S 112 1 0 "" NA19140 esv2445615 11 7180270 7181688 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384043 S 1 0 1 "" NA18507 nsv896975 11 7228602 7372548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539573 S 6533 1 0 SYT9 MS14368 esv23862 11 7232632 7233742 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12094 S 451 3 0 SYT9 NA12287,NA19147,NA19257 nsv467702 11 7300338 7326451 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542911 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SYT9 HGDP00039 esv2450231 11 7308469 7309485 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311528 S 1 1 0 SYT9 NA18507 esv268316 11 7309000 7309342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516683,essv2519213,essv2514073,essv2518664,essv2515314,essv2518445,essv2516313,essv2515731,essv2517929,essv2515935,essv2517861,essv2517248,essv2514009,essv2513583 M 157 14 0 Samples from several populations that are part of the HapMap project. SYT9 NA07347,NA11881,NA11894,NA12043,NA12045,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12878,NA18970,NA19143 esv274595 11 7309000 7309342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581423 S 7 1 0 Samples from several populations that are part of the HapMap project. SYT9 NA12878 nsv896976 11 7335525 7387295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515182 S 6533 0 1 SYT9 SP56132 essv1639 11 7376191 7402481 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SYT9 NA18961 esv2448178 11 7384766 7386389 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337681 S 1 0 1 SYT9 NA18507 esv2288433 11 7384974 7385690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911780 S 1 0 1 SYT9 NA18507 esv269864 11 7392434 7393672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504148,essv2496325,essv2501111,essv2493775,essv2497719,essv2502261 M 157 6 0 Samples from several populations that are part of the HapMap project. SYT9 NA18505,NA18510,NA18516,NA18517,NA19147,NA19257 nsv525638 11 7393055 7394175 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701792 S 2026 1 0 SYT9 dgv57n21 11 7393055 7394187 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521456,nsv526629,nsv517979 M 2026 0 3 SYT9 nsv7215 11 7414042 9714789 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6444 S 9 0 0 AKIP1,ASCL3,C11orf16,CYB5R2,DENND5A,EIF3F,IPO7,KRT8P41,LMO1,LOC283299,LOC644656,NLRP10,NRIP3,OLFML1,OR10A3,OR10A6,OR5E1P,OR5P2,OR5P3,OVCH2,PPFIBP2,RIC3,RPL27A,SCUBE2,SNORA23,SNORA3,SNORA45,ST5,STK33,SWAP70,SYT9,TMEM41B,TMEM9B,TRIM66,TUB,WEE1,ZNF143 NA12156 nsv499766 11 7431666 9739852 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585495 S 9 0 0 AKIP1,ASCL3,C11orf16,CYB5R2,DENND5A,EIF3F,IPO7,KRT8P41,LMO1,LOC283104,LOC283299,LOC440028,LOC644656,NLRP10,NRIP3,OLFML1,OR10A3,OR10A6,OR5E1P,OR5P2,OR5P3,OVCH2,PPFIBP2,RIC3,RPL27A,SCUBE2,SNORA23,SNORA3,SNORA45,ST5,STK33,SWAP70,SYT9,TMEM41B,TMEM9B,TRIM66,TUB,WEE1,ZNF143 esv259496 11 7469252 7469673 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393720,essv2394297 M 6 0 0 Samples from several populations that are part of the HapMap project. OLFML1 NA19238,NA19240 esv259966 11 7469258 7469683 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398643,essv2400237,essv2398781,essv2394744,essv2394464,essv2396262,essv2397979,essv2399180,essv2394730,essv2397699,essv2399225,essv2394978,essv2398561,essv2396530,essv2396296,essv2395743,essv2398441,essv2396181,essv2397383,essv2398364,essv2399279,essv2396004,essv2400502,essv2394487 M 144 0 0 Samples from several populations that are part of the HapMap project. OLFML1 NA06986,NA07037,NA07347,NA07357,NA12045,NA12716,NA12751,NA12776,NA18498,NA18502,NA18508,NA18511,NA18516,NA18517,NA18558,NA18853,NA18871,NA18944,NA18980,NA19093,NA19102,NA19238,NA19240,NA19257 nsv7659 11 7490279 7534949 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8877 S 9 0 1 PPFIBP2 NA12156 esv268850 11 7569243 7569578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576040,essv2541055,essv2542577,essv2522723,essv2568377,essv2531899,essv2521783,essv2550595,essv2535444,essv2551986,essv2547305,essv2529183,essv2564623,essv2577718,essv2553825,essv2565477,essv2555025,essv2537702,essv2528518,essv2556972,essv2569234,essv2538902,essv2562967,essv2538291,essv2542712,essv2540452,essv2524627,essv2565195,essv2534880,essv2549417,essv2519866,essv2560002,essv2522018,essv2566258,essv2528670,essv2541640,essv2569940,essv2535563,essv2559147,essv2562162,essv2539344,essv2572939,essv2555292,essv2567262,essv2566499,essv2529857,essv2573763,essv2527702,essv2556108,essv2534326,essv2522425,essv2531459,essv2573749,essv2577126,essv2526895,essv2575272,essv2560940,essv2574870,essv2560280,essv2549918,essv2571122,essv2574432,essv2533233,essv2547980,essv2563560 M 157 65 0 Samples from several populations that are part of the HapMap project. PPFIBP2 NA07051,NA07347,NA10847,NA11830,NA11831,NA11919,NA11931,NA11995,NA12006,NA12144,NA12155,NA12249,NA12489,NA12717,NA12749,NA12751,NA12761,NA12763,NA12812,NA12872,NA12878,NA12891,NA18501,NA18508,NA18519,NA18532,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18579,NA18592,NA18593,NA18608,NA18638,NA18909,NA18912,NA18942,NA18943,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18970,NA19005,NA19102,NA19137,NA19138,NA19190,NA19225,NA19238,NA19240 esv273993 11 7569243 7569578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581849,essv2582437,essv2584166,essv2583547 M 7 4 0 Samples from several populations that are part of the HapMap project. PPFIBP2 NA12878,NA12891,NA19238,NA19240 dgv58n21 11 7629964 7666026 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524361,nsv519594 M 2026 0 2 CYB5R2,PPFIBP2 esv29577 11 7642495 7643485 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10046 S 451 0 3 CYB5R2 NA11894,NA11995,NA12004 nsv526297 11 7643250 7644291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702578 S 2026 0 1 CYB5R2 esv271716 11 7659402 7659660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508927,essv2507243 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18870 nsv522192 11 7664344 7664534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694967 S 2026 0 1 "" esv2518653 11 7672793 7674344 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320635 S 1 0 1 OVCH2 NA18507 nsv512206 11 7673273 7674384 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624774 S 1 0 1 OVCH2 1 esv2164871 11 7673294 7674003 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637599 S 1 0 1 OVCH2 NA18507 esv5220 11 7673443 7673953 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27661 S 1 0 1 Single Asian sample YH OVCH2 YH esv2540661 11 7673480 7673795 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347396 S 1 0 1 OVCH2 NA18507 dgv19n6 11 7673480 7673807 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv38930,nsv38513 M 24 OVCH2 esv990602 11 7673481 7673796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582477 S 3 0 1 OVCH2 HuRef esv9107 11 7673483 7673806 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31548 S 1 0 1 OVCH2 SJK esv1223356 11 7673491 7673807 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332073 S 2 0 1 OVCH2 HuRef nsv509387 11 7708273 7823869 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623813,nssv619857,nssv621139 M 4 3 0 OR5P2,OR5P3 NA10860,NA15510,NA18994 nsv510998 11 7708273 7825487 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618667 S 4 0 0 OR5P2,OR5P3 CHM nsv896977 11 7711535 7847273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560393,nssv1549073,nssv1535883 M 6533 0 3 LOC283299,OR5E1P,OR5P2,OR5P3 MS12539,MS18028,MS24461 nsv896978 11 7732438 7795017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556438 S 6533 0 1 OR5P2 MS22008 nsv7660 11 7742179 7808602 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv992,nssv5348 M 9 0 2 OR5P2,OR5P3 NA19129,NA19240 esv999080 11 7744547 7749655 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563505 S 3 0 1 "" HuRef nsv512207 11 7746491 7749883 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624775 S 1 0 1 "" 1 esv1920303 11 7746760 7748696 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922957 S 1 0 1 "" NA18507 esv8683 11 7746806 7748679 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31124 S 1 0 1 "" SJK esv1407889 11 7746932 7748607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623371 S 2 0 1 "" HuRef nsv896979 11 7758123 7839120 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536203 S 6533 1 0 LOC283299,OR5E1P,OR5P2,OR5P3 MS12648 nsv896980 11 7759268 7795017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513746,nssv1503112,nssv1501873,nssv1519056,nssv1508210,nssv1501952,nssv1519001 M 6533 0 7 OR5P2 SP51051,SP51058,SP51486,SP54585,SP55842,SP80928,SP80936 nsv498751 11 7767749 7789958 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586439 S 9 0 1 OR5P2 nsv436124 11 7767796 7792963 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466640 S 2 0 1 Samples from several populations that are part of the HapMap project. OR5P2 NA18505 esv22126 11 7769434 7789226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18656,esv10911 M 451 0 12 OR5P2 NA07045,NA11995,NA18505,NA18508,NA18511,NA18861,NA18907,NA18909,NA18916,NA19129,NA19147,NA19240 esv2422018 11 7769616 7788834 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5153636,essv5105109,essv5003211,essv5095576,essv5102430,essv5036817,essv5157820,essv5082741,essv5023356,essv5051115,essv5138562,essv5126626,essv5069767,essv5047849,essv5106174,essv5107514,essv5049087,essv5153471,essv5150602,essv5071508,essv5111183,essv5139308,essv5156333,essv5050580,essv5005634,essv5124028,essv5015751,essv5090517,essv5101585,essv5105107,essv5081368,essv5060196,essv5089614,essv5035670,essv5129578,essv5127229,essv5141310,essv5041793,essv5084609,essv5088646,essv5148989,essv5035613,essv5145474,essv5083630,essv5015305,essv5140527,essv5005500,essv5033290,essv5044482,essv5003298,essv5064033,essv5088041,essv5080987,essv5056445,essv5111673,essv5040825,essv5158224,essv5084656,essv5063576,essv5085634,essv5035174,essv5089697,essv5047191,essv5104356,essv5023280,essv5121910,essv5038552,essv5056332,essv5061414,essv5115837,essv5071078,essv5128417,essv5126003,essv5028439,essv5004636,essv5143729,essv5069927,essv5050306,essv5017800,essv5020392,essv5095315,essv5010370,essv5136177,essv5082310,essv5114949,essv5134034,essv5108386,essv5053012,essv5158479,essv5081299,essv5139684,essv5097828,essv5063760,essv5085106,essv5125126,essv5021298,essv5058292,essv5129276,essv5073080,essv5081830,essv5092969,essv5123656,essv5113397,essv5124342,essv5031794,essv5009678,essv5063536,essv5096817,essv5112142,essv5107614,essv5146612,essv5083213,essv5144829,essv5044239,essv5067454,essv5067033,essv5078672,essv5007016,essv5153252,essv5019497,essv5153734,essv5067652,essv5159247,essv5002423,essv5120138,essv5095334,essv5069282,essv5114076,essv5132464,essv5082466,essv5086840,essv5134545,essv5118299,essv5007687,essv5032405,essv5149763,essv5020298,essv5057952,essv5128906,essv5149773,essv5129175,essv5078941,essv5081429,essv5013355,essv5009114,essv5007427,essv5106838,essv5018355,essv5021694,essv5011125,essv5133305,essv5066091,essv5103197,essv5061144,essv5118314,essv5054010,essv5002892,essv5004691,essv5113115,essv5061877,essv5102454,essv5053240,essv5101300,essv5021104,essv5107239,essv5143197,essv5148546,essv5078916,essv5060210,essv5139928,essv5030069,essv5068816,essv5026358,essv5080915,essv5111766,essv5045783,essv5142648,essv5071983,essv5025444,essv5031506,essv5031327,essv5056950,essv5088068,essv5118899,essv5035365,essv5011626,essv5145331,essv5145999,essv5023130,essv5087525,essv5003288,essv5044155,essv5087172,essv5089553,essv5120786,essv5055164,essv5081139,essv5038215,essv5034665,essv5032373,essv5134816,essv5131041,essv5126112,essv5159018,essv5026809,essv5116608,essv5096960,essv5038186,essv5003318,essv5035216,essv5034014,essv5157590,essv5035468,essv5073186,essv5092712,essv5052550,essv5009727,essv5040129,essv5071858,essv5106359,essv5086516,essv5008983,essv5142708,essv5089682,essv5087308,essv5079348,essv5011420,essv5141038,essv5101894,essv5131998,essv5151741,essv5005547,essv5036259,essv5072537,essv5148212,essv5084598,essv5113639,essv5013284,essv5011280,essv5039617,essv5075919,essv5018312,essv5081461,essv5003131,essv5002960,essv5033848,essv5106615,essv5028821,essv5081020,essv5041681,essv5025199,essv5065745,essv5141832,essv5067229,essv5076209,essv5012406,essv5138427,essv5120348,essv5157516,essv5079370,essv5119514,essv5129712,essv5103249,essv5054048,essv5084777,essv5075494,essv5005006,essv5129627,essv5111369 M 1184 0 269 OR5P2 NA06995,NA07435,NA10840,NA11995,NA12144,NA12283,NA12286,NA12753,NA12762,NA12778,NA12865,NA12873,NA12874,NA12875,NA17962,NA17967,NA17968,NA17981,NA17986,NA17988,NA17989,NA17993,NA17995,NA17997,NA18122,NA18132,NA18138,NA18149,NA18154,NA18155,NA18158,NA18161,NA18485,NA18487,NA18497,NA18498,NA18503,NA18505,NA18506,NA18508,NA18509,NA18511,NA18515,NA18516,NA18526,NA18532,NA18534,NA18544,NA18552,NA18566,NA18602,NA18605,NA18615,NA18621,NA18622,NA18624,NA18635,NA18636,NA18689,NA18694,NA18696,NA18704,NA18748,NA18852,NA18853,NA18854,NA18855,NA18861,NA18863,NA18867,NA18868,NA18869,NA18873,NA18909,NA18913,NA18916,NA18917,NA18930,NA18934,NA18939,NA18944,NA18948,NA18953,NA18955,NA18960,NA18964,NA18966,NA18976,NA18977,NA19000,NA19027,NA19031,NA19036,NA19041,NA19046,NA19058,NA19060,NA19062,NA19064,NA19075,NA19077,NA19079,NA19096,NA19116,NA19117,NA19122,NA19123,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19147,NA19148,NA19149,NA19152,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19176,NA19179,NA19180,NA19189,NA19192,NA19193,NA19194,NA19200,NA19214,NA19221,NA19222,NA19223,NA19236,NA19237,NA19238,NA19239,NA19240,NA19248,NA19310,NA19311,NA19313,NA19314,NA19319,NA19327,NA19347,NA19352,NA19372,NA19376,NA19379,NA19380,NA19381,NA19382,NA19384,NA19391,NA19429,NA19434,NA19436,NA19439,NA19444,NA19445,NA19446,NA19457,NA19470,NA19471,NA19474,NA19703,NA19704,NA19705,NA19708,NA19712,NA19755,NA19901,NA19908,NA19909,NA19915,NA19919,NA19985,NA20276,NA20277,NA20290,NA20294,NA20295,NA20300,NA20340,NA20345,NA20346,NA20347,NA20348,NA20359,NA20364,NA20502,NA20508,NA20535,NA20543,NA20757,NA20769,NA20774,NA20813,NA20845,NA20853,NA20876,NA20892,NA20898,NA21090,NA21094,NA21107,NA21115,NA21116,NA21125,NA21143,NA21297,NA21308,NA21311,NA21312,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21356,NA21357,NA21359,NA21363,NA21368,NA21371,NA21378,NA21381,NA21382,NA21383,NA21403,NA21404,NA21414,NA21415,NA21423,NA21435,NA21438,NA21439,NA21457,NA21473,NA21475,NA21476,NA21489,NA21509,NA21517,NA21519,NA21521,NA21573,NA21576,NA21577,NA21578,NA21611,NA21631,NA21632,NA21634,NA21636,NA21650,NA21682,NA21776,NA21826 nsv442601 11 7769616 7798159 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR5P2 dgv199n67 11 7771393 7783692 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825760,nsv825759 M 31 0 3 OR5P2 NA18526,NA18552,NA18566 nsv514633 11 7773147 7783403 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628085 S 1414 0 1 OR5P2 nsv7661 11 7778616 7797310 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv993,nssv6445,nssv3924,nssv10800 M 9 4 0 "" NA12156,NA12878,NA18956,NA19240 esv1001320 11 7787816 7797580 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563719 S 3 1 0 "" HuRef esv1557476 11 7792161 7792161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620019 S 2 1 0 "" HuRef esv24404 11 7803274 7804168 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10549 S 451 0 4 OR5P3 NA18511,NA18916,NA19190,NA19225 nsv7662 11 7815404 7847606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv995 S 9 1 0 LOC283299,OR5E1P NA19240 nsv818798 11 7867316 7874870 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417910 S 112 1 0 LOC283299 NA18852 nsv522758 11 7905926 7907245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698397 S 2026 0 1 OR10A6 nsv527100 11 7905926 7909496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703480 S 2026 0 1 OR10A6 esv2506890 11 8006834 8008313 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236741 S 1 0 1 "" NA18507 nsv428249 11 8025170 8172945 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452055,nssv452052,nssv452050,nssv452054,nssv452051,nssv452056,nssv452049 M 62 0 7 RIC3,TUB HGDP00450,HGDP00460,HGDP00467,HGDP00474,HGDP00476,NA19181,NA19189 esv1001231 11 8028351 8029114 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565086 S 3 1 0 TUB HuRef esv25122 11 8044770 8045708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20690 S 451 0 4 TUB NA18909,NA18916,NA19099,NA19240 nsv896981 11 8108656 8184540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539342 S 6533 1 0 RIC3 MS14304 esv998418 11 8136688 8141365 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564566 S 3 1 0 RIC3 HuRef nsv513307 11 8136717 8137077 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625693 S 1 1 0 RIC3 1 esv1433200 11 8136905 8136905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346473 S 2 1 0 RIC3 HuRef esv23598 11 8156516 8158276 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9922,esv14931 M 451 3 0 "" NA11931,NA18523,NA19099 esv28161 11 8171971 8172531 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12878 S 451 4 0 "" NA11995,NA18502,NA18907,NA19099 nsv825761 11 8184768 8185329 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421994 S 31 1 0 "" NA18997 nsv896982 11 8192070 8217490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546780 S 6533 0 1 LMO1 MS17208 nsv469936 11 8209429 8228299 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546072,nssv546073 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LMO1 HGDP00550,HGDP00556 nsv522567 11 8217874 8221101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705951 S 2026 0 1 LMO1 nsv527329 11 8231703 8233274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703754 S 2026 0 1 LMO1 nsv7663 11 8236887 8269756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6446 S 9 1 0 LMO1 NA12156 esv3947 11 8282600 8282911 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26388 S 1 0 1 Single Asian sample YH "" YH nsv519655 11 8310511 8312489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696975 S 2026 0 1 "" esv2751035 11 8388230 8642027 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989839,essv6983674,essv6983673,essv6983672,essv6989385 M 771 0 1 STK33,TRIM66 BEC_611 nsv519052 11 8410170 8431460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696523 S 2026 0 1 STK33 esv32551 11 8413599 8491218 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100035 S 51 0 1 STK33 22086 nsv471747 11 8436666 8436852 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646028 M 0.021 95 STK33 nsv896983 11 8483219 8639041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580282 S 6533 0 1 STK33,TRIM66 IS35260 nsv7664 11 8728553 8762673 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8878 S 9 1 0 ST5 NA12156 essv24306 11 8741389 8966149 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AKIP1,ASCL3,C11orf16,NRIP3,ST5,TMEM9B NA10856 nsv527920 11 8773271 8813398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704426 S 2026 0 1 ST5 nsv509388 11 8776926 8799282 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623818 S 4 1 0 ST5 NA18994 nsv527073 11 8785744 8805039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703452 S 2026 0 1 ST5 nsv7665 11 8795671 8801536 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3925 S 9 1 0 ST5 NA12878 nsv435923 11 8795901 8957178 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466641 S 2 0 1 AKIP1,ASCL3,C11orf16,ST5,TMEM9B NA15510 nsv513308 11 8796062 8796714 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625694 S 1 1 0 ST5 1 nsv832062 11 8805871 8966048 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449014 S 95 0 1 AKIP1,ASCL3,C11orf16,NRIP3,ST5,TMEM9B esv271927 11 8843855 8843940 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519319,essv2514055,essv2516419,essv2515845,essv2517776,essv2517329,essv2519392 M 157 7 0 Samples from several populations that are part of the HapMap project. ST5 NA07346,NA11894,NA12043,NA12814,NA12873,NA12878,NA18970 esv273960 11 8843855 8843940 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581339 S 7 1 0 Samples from several populations that are part of the HapMap project. ST5 NA12878 nsv7666 11 8866143 8885523 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8879 S 9 1 0 ST5 NA12156 esv1699885 11 8888774 8888851 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692428 S 2 0 1 ST5 HuRef nsv8787 11 8911525 8915674 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22141 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv520248 11 8920895 8921514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662104,nssv677958,nssv690673 M 2026 0 3 ASCL3 nsv896984 11 8945126 9046984 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583368 S 6533 1 0 NRIP3,SCUBE2 IS36442 esv1079845 11 8956867 8956867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766506 S 2 1 0 "" HuRef esv33264 11 8964188 9267707 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99491 S 51 0 1 DENND5A,KRT8P41,NRIP3,SCUBE2,TMEM41B 22335 nsv896985 11 8969578 9109039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508184 S 6533 1 0 KRT8P41,NRIP3,SCUBE2 SP54585 nsv7667 11 8994250 9028637 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2857 S 9 1 0 SCUBE2 NA18555 nsv467706 11 9034228 9071575 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542913 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCUBE2 HGDP00328 esv1003548 11 9060590 9064183 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564051 S 3 1 0 SCUBE2 HuRef esv267588 11 9061079 9062787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510136,essv2496642,essv2505146,essv2508041,essv2505540,essv2513151,essv2510329,essv2505059,essv2509060,essv2498338,essv2500464,essv2497282,essv2512980,essv2497144,essv2497785,essv2499927,essv2504498,essv2506383,essv2500622,essv2507592,essv2508178,essv2508485,essv2508682,essv2510079,essv2496053,essv2507576,essv2511587,essv2511128,essv2497928,essv2502435,essv2493050,essv2509388,essv2497403,essv2495102,essv2507000,essv2503607,essv2495808,essv2503935,essv2495037,essv2511556,essv2504332 M 157 41 0 Samples from several populations that are part of the HapMap project. SCUBE2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA11829,NA11894,NA11995,NA12045,NA12154,NA12249,NA12414,NA12828,NA18522,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18562,NA18563,NA18566,NA18571,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18638,NA18940,NA18944,NA18945,NA18948,NA18951,NA18953,NA18959,NA18964,NA19102 esv1135936 11 9061126 9061126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284468 S 2 1 0 SCUBE2 HuRef nsv526778 11 9116315 9141653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703130 S 2026 0 1 DENND5A nsv515891 11 9232474 9291537 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665166,nssv666294 M 2026 2 0 DENND5A,TMEM41B nsv7669 11 9246952 9291604 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8880 S 9 0 1 TMEM41B NA12156 esv32901 11 9267707 9285445 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98855,essv93792,essv100907,essv96925,essv97841,essv95287,essv101748,essv95836,essv96124,essv96664,essv97210,essv98544,essv99934,essv95943,essv93487,essv93257,essv92641,essv96430,essv97645,essv100222,essv100473,essv100445,essv99433,essv98492,essv94156 M 51 0 25 TMEM41B 21606,21634,21656,21817,21837,21872,21909,21911,22007,22011,22075,22085,22086,22127,22128,22170,22233,22261,22278,22286,22298,22300,22335,22352,22394 nsv508617 11 9270603 9365138 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619018 S 4 0 1 IPO7,TMEM41B NA10860 esv1001197 11 9273539 9283063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563962 S 3 0 1 TMEM41B HuRef esv2567694 11 9279811 9282161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219852 S 1 0 1 TMEM41B NA18507 nsv512208 11 9279895 9281831 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624776 S 1 0 1 TMEM41B 1 esv24655 11 9280437 9281122 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16760 S 451 0 8 TMEM41B NA11931,NA12287,NA12414,NA18508,NA18517,NA18909,NA18916,NA19190 esv271231 11 9287614 9287699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514997 S 157 1 0 Samples from several populations that are part of the HapMap project. TMEM41B NA12812 nsv521969 11 9291537 9335581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694738 S 2026 0 1 TMEM41B esv271139 11 9294890 9294975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517983,essv2515872,essv2517752 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12873,NA12878 esv272477 11 9294890 9294975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581501 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2441718 11 9389576 9390780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174617 S 1 0 1 IPO7 NA18507 nsv442218 11 9391796 9397985 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 IPO7 nsv825762 11 9426751 9436290 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424428 S 31 0 1 "" NA18582 nsv7670 11 9457471 9471326 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9941 S 9 0 1 ZNF143 NA18507 esv2486941 11 9459357 9466020 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239973 S 1 0 1 ZNF143 NA18507 esv24739 11 9460052 9465431 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19833 S 451 0 5 ZNF143 NA18502,NA18523,NA19099,NA19190,NA19240 nsv7671 11 9468143 9499693 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5349 S 9 1 0 ZNF143 NA19129 nsv512209 11 9482133 9483587 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624778 S 1 0 1 ZNF143 1 nsv7672 11 9560998 9593944 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3926 S 9 1 0 WEE1 NA12878 nsv896986 11 9593430 9635721 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513957 S 6533 0 1 "" SP55878 nsv7673 11 9603902 9634309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6447 S 9 1 0 "" NA12156 nsv521528 11 9624493 9628790 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698145 S 2026 1 0 "" nsv526210 11 9625939 9628790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702474 S 2026 0 1 "" esv27859 11 9683115 9684492 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14240 S 451 0 2 SWAP70 NA12828,NA18517 esv1146451 11 9683486 9683538 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668361 S 2 0 1 SWAP70 HuRef esv2532017 11 9713926 9714966 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217155 S 1 1 0 SWAP70 NA18507 esv271180 11 9714531 9714898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512609,essv2496832,essv2510701,essv2493238,essv2504103,essv2496377,essv2493814,essv2506248,essv2503269,essv2497281,essv2494535,essv2500017,essv2508295,essv2511313,essv2500617,essv2494497,essv2500119,essv2507701,essv2508441,essv2510029,essv2499292,essv2512938,essv2507474,essv2505706,essv2513322,essv2509181,essv2507381,essv2495581,essv2511590,essv2497903,essv2503533,essv2497377,essv2495956,essv2502710,essv2500704,essv2501478,essv2504614,essv2499119,essv2498822,essv2510387,essv2493833 M 157 41 0 Samples from several populations that are part of the HapMap project. SWAP70 NA18489,NA18498,NA18501,NA18504,NA18505,NA18510,NA18517,NA18523,NA18542,NA18545,NA18550,NA18558,NA18561,NA18570,NA18571,NA18572,NA18573,NA18576,NA18582,NA18593,NA18605,NA18609,NA18638,NA18861,NA18907,NA18909,NA18912,NA18916,NA18940,NA18945,NA18947,NA18959,NA18961,NA18965,NA18973,NA19093,NA19099,NA19114,NA19138,NA19172,NA19210 nsv896987 11 9716494 9842425 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512706 S 6533 1 0 LOC283104,LOC440028,SBF2,SWAP70 SP55596 nsv527910 11 9721924 9725639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704416 S 2026 0 1 SWAP70 esv2514794 11 9750781 9752268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306795 S 1 0 1 LOC283104 NA18507 esv2309802 11 9750987 9751658 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812199 S 1 0 1 LOC283104 NA18507 esv1086799 11 9751149 9751475 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835931 S 2 0 1 LOC283104 HuRef nsv39331 11 9751163 9751488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57909 M 24 LOC283104 esv8918 11 9751198 9751523 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31359 S 1 0 1 LOC283104 SJK nsv896988 11 9868628 9969087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574737 S 6533 0 1 SBF2 IS33616 nsv471749 11 9886475 9890828 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646030 M 0.021 95 SBF2 nsv521169 11 9886810 9887469 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686483,nssv683800 M 2026 0 2 SBF2 esv2632556 11 9894354 9896978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169653 S 1 0 1 SBF2 NA18507 esv2087227 11 9894809 9896457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522817 S 1 0 1 SBF2 NA18507 esv22125 11 9894996 9896345 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13156 S 451 0 5 SBF2 NA18502,NA18858,NA18909,NA19099,NA19240 nsv517092 11 9895121 9899008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654947,nssv689501,nssv687576,nssv678804,nssv666814,nssv676410,nssv679188,nssv690389,nssv685033,nssv670228,nssv653772,nssv687880,nssv666777 M 2026 0 13 SBF2 nsv519992 11 9895121 9901400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697166 S 2026 0 1 SBF2 nsv510239 11 9907919 9913919 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622325,nssv618336,nssv624238,nssv621510 M 4 0 4 SBF2 CHM,NA10860,NA15510,NA18994 nsv896989 11 9908544 10016199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555230 S 6533 0 1 SBF2 MS21244 nsv7674 11 9968935 10007996 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10801,nssv1927 M 9 2 0 SBF2 NA18555,NA18956 nsv825763 11 9994486 9994926 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439112 S 31 0 1 SBF2 NA18973 esv2543425 11 10101904 10103366 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201140 S 1 0 1 SBF2 NA18507 nsv520415 11 10115813 10121032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690651,nssv671318 M 2026 0 2 SBF2 nsv515552 11 10182844 10185385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687357,nssv673664,nssv651842 M 2026 0 3 SBF2 nsv510240 11 10209812 10215812 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624242 S 4 0 1 SBF2 NA18994 nsv8788 11 10215575 10218328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17951 S 31 0 1 Samples from several populations that are part of the HapMap project. SBF2 NA12872 nsv825765 11 10216864 10217943 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428517 S 31 0 1 SBF2 AK10 nsv8789 11 10219961 10231605 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17981,nssv19596,nssv23357,nssv17800,nssv19576,nssv19893 M 31 5 1 Samples from several populations that are part of the HapMap project. SBF2 NA07048,NA10863,NA12802,NA12872,NA18552,NA18860 esv2459856 11 10248109 10250555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287616 S 1 0 1 SBF2 NA18507 esv2386638 11 10249144 10250616 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580592 S 1 0 1 SBF2 NA18507 nsv512210 11 10249222 10250439 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624779 S 1 0 1 SBF2 1 esv3658 11 10249289 10250476 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26099 S 1 0 1 Single Asian sample YH SBF2 YH esv6401 11 10249316 10250416 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28842 S 1 0 1 SBF2 SJK esv2518130 11 10342232 10343650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353632 S 1 0 1 "" NA18507 esv29122 11 10390472 10391166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19587 S 451 0 1 "" NA07045 nsv896990 11 10415172 10471283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542731 S 6533 0 1 AMPD3 MS15841 nsv526453 11 10455679 10458998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702756 S 2026 0 1 AMPD3 nsv518705 11 10466848 10474865 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696156 S 2026 0 1 AMPD3 nsv519987 11 10466848 10475553 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697164 S 2026 1 0 AMPD3 esv22967 11 10486015 10488587 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20718 S 451 4 0 MIR4485,MTRNR2L8 NA12287,NA12776,NA18523,NA18916 nsv819964 11 10493830 10502111 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419864 S 2 0 1 RNF141 AK1 nsv7675 11 10510965 10543599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10802 S 9 1 0 LOC100129827,LYVE1,RNF141 NA18956 nsv819020 11 10536921 10538727 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419332 S 2 0 1 LOC100129827,LYVE1 AK1 nsv832063 11 10575061 10741857 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449015 S 95 0 1 CTR9,LOC100129827,MRVI1 esv1458526 11 10594069 10594069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144780 S 2 1 0 MRVI1 HuRef nsv7676 11 10645720 10690715 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5350 S 9 0 1 MRVI1 NA19129 esv270621 11 10689940 10690239 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541065,essv2546490,essv2570780,essv2568327,essv2548464,essv2525328,essv2535061,essv2529257,essv2564625,essv2576150,essv2561851,essv2532319,essv2531054,essv2569131,essv2539351,essv2534220,essv2575545,essv2545006 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11881,NA11993,NA11995,NA12045,NA12156,NA12249,NA12749,NA12751,NA12814,NA12874,NA18505,NA18573,NA18861,NA18912,NA18959,NA19099,NA19172 nsv38696 11 10713657 10719108 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57274 M 24 "" esv989984 11 10780157 10780157 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569363 S 3 1 0 EIF4G2 HuRef esv1579756 11 10780158 10780158 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592134 S 2 1 0 EIF4G2 HuRef nsv442220 11 10922331 10938872 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514592 11 10922437 10936146 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628086 S 1414 1 0 "" nsv825766 11 10985324 10986763 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422813 S 31 0 1 "" NA18552 nsv469937 11 10999534 11040577 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546074 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00628 nsv467707 11 11002835 11040577 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542914 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00628 nsv519990 11 11080232 11109004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697165 S 2026 0 1 "" nsv521616 11 11080232 11123169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698234 S 2026 0 1 "" nsv832064 11 11106340 11294479 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449016 S 95 1 0 GALNTL4 esv32920 11 11172451 11337868 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101545,essv97576,essv101211,essv100770,essv100871,essv101079,essv95124,essv94030,essv101382,essv95540,essv95381,essv97409,essv95827,essv94489,essv99136,essv92978,essv93694,essv96220,essv96663,essv98602,essv99869,essv93422,essv96510,essv100540,essv99478,essv96379,essv94151 M 51 24 2 CSNK2A1P,GALNTL4 21603,21616,21618,21656,21693,21721,21802,21805,21847,21872,21879,21911,21932,21938,21939,21972,22007,22011,22085,22086,22128,22261,22298,22335,22371,22394 nsv896991 11 11188584 11306175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526195 S 6533 1 0 GALNTL4 SP57062 nsv509389 11 11192358 11264360 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623826,nssv619877,nssv621149 M 4 3 0 GALNTL4 NA10860,NA15510,NA18994 nsv7677 11 11220871 11227546 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2858,nssv5351,nssv10804 M 9 3 0 "" NA18555,NA18956,NA19129 esv995059 11 11223343 11227093 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565535 S 3 1 0 "" HuRef esv1663692 11 11224674 11224724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099040 S 2 0 1 "" HuRef esv34098 11 11226777 11428202 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CSNK2A1P,GALNTL4 nsv524019 11 11250242 11250829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699880 S 2026 0 1 GALNTL4 essv8891 11 11250242 11269413 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GALNTL4 NA19171 nsv832065 11 11257343 11437803 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449018 S 95 1 0 CSNK2A1P,GALNTL4 esv22181 11 11257991 11262124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16074 S 451 0 1 GALNTL4 NA18909 nsv442221 11 11258385 11262056 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GALNTL4 nsv519371 11 11258440 11263107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655728,nssv676956,nssv687392,nssv681368,nssv659008 M 2026 0 5 GALNTL4 nsv896992 11 11317610 11434586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526196 S 6533 1 0 CSNK2A1P,GALNTL4 SP57062 nsv523052 11 11319881 11320602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698735 S 2026 0 1 GALNTL4 esv29788 11 11322979 11324834 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10055 S 451 1 0 GALNTL4 NA19257 esv24877 11 11336131 11337562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16835 S 451 0 14 GALNTL4 NA07045,NA11993,NA11995,NA12006,NA12044,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18907,NA18909,NA19225 dgv21e180 11 11336174 11337566 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989469,esv1003636 M 3 0 1 GALNTL4 HuRef esv1000870 11 11336196 11337604 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581908 S 3 0 1 GALNTL4 HuRef esv1225155 11 11336197 11337606 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027050 S 2 0 1 GALNTL4 HuRef nsv518823 11 11339918 11344431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696275 S 2026 0 1 GALNTL4 nsv528861 11 11339918 11347161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705541 S 2026 0 1 GALNTL4 esv990208 11 11342669 11347698 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564874 S 3 0 1 GALNTL4 HuRef esv5536 11 11347826 11347916 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27977 S 1 1 0 GALNTL4 SJK nsv508618 11 11364625 11528944 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620174 S 4 0 1 GALNTL4 NA15510 nsv522669 11 11382774 11383616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706074 S 2026 0 1 GALNTL4 esv1001378 11 11404269 11404994 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565241 S 3 1 0 GALNTL4 HuRef nsv7678 11 11486692 11526175 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8881 S 9 0 1 GALNTL4 NA12156 esv2619721 11 11538000 11538902 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320651 S 1 1 0 GALNTL4 NA18507 esv6523 11 11538024 11538346 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28964 S 1 0 1 GALNTL4 SJK esv269536 11 11628450 11628809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494342,essv2506291,essv2507318 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18523,NA18912 nsv7680 11 11652609 11673376 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6448 S 9 0 1 "" NA12156 nsv832066 11 11662976 11844027 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449019 S 95 1 0 USP47 nsv832067 11 11755281 11954897 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449020 S 95 1 0 DKK3,USP47 esv1252250 11 11764435 11764435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133876 S 2 1 0 "" HuRef nsv512211 11 11779246 11781350 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624780 S 1 0 1 "" 1 esv29397 11 11779302 11781068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11630 S 451 0 9 "" NA06985,NA07037,NA11894,NA12287,NA12749,NA12828,NA18505,NA19108,NA19257 esv3638 11 11779461 11781411 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26079 S 1 0 1 Single Asian sample YH "" YH nsv819874 11 11779496 11783619 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419604 S 2 0 1 "" AK1 esv1002082 11 11779563 11781198 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566879 S 3 0 1 "" HuRef esv5505 11 11779563 11781204 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27946 S 1 0 1 "" SJK esv1000912 11 11779578 11780549 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586166 S 3 0 1 "" HuRef nsv825767 11 11779737 11781196 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440543,nssv1434604,nssv1431523,nssv1433865 M 31 0 4 "" AK18,NA18526,NA18564,NA18570 nsv8790 11 11779958 11783292 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19875,nssv18169,nssv18172,nssv20237,nssv22877,nssv17830,nssv20005,nssv19044,nssv19864,nssv19908 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA10839,NA12802,NA18537,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA18980 nsv825768 11 11780181 11781196 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432282,nssv1422814,nssv1439869,nssv1421995,nssv1429283,nssv1436058,nssv1425194,nssv1435311,nssv1438336,nssv1433055,nssv1428519,nssv1427700,nssv1428352 M 31 0 13 "" AK10,AK12,AK2,AK20,AK8,NA18537,NA18552,NA18566,NA18942,NA18951,NA18968,NA18972,NA18997 esv993646 11 11780181 11783948 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587222 S 3 0 1 "" HuRef nsv896993 11 11819986 11934149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583792,nssv1556628 M 6533 0 2 USP47 IS36656,MS22104 nsv511478 11 11825125 11849793 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626094 S 1 0 1 USP47 1 nsv8792 11 11831412 11833326 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19626,nssv20648,nssv23415,nssv19730,nssv22063,nssv19905,nssv19556,nssv20379,nssv22171,nssv19606,nssv25081,nssv20677,nssv20878,nssv20035,nssv19923,nssv22604,nssv22906,nssv19074,nssv18011,nssv18962,nssv18245,nssv20129,nssv18199,nssv22735,nssv19894,nssv17860 M 31 25 1 Samples from several populations that are part of the HapMap project. USP47 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv512212 11 11831634 11833140 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624781 S 1 0 1 USP47 1 esv28059 11 11832299 11833259 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16498 S 451 3 2 USP47 NA07045,NA12414,NA12489,NA19225,NA19240 nsv821457 11 11832299 11833259 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420929 S 1 0 1 USP47 NA10851 nsv7681 11 11838821 11883690 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8882 S 9 0 1 USP47 NA12156 nsv524777 11 11861934 11875274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700768 S 2026 0 1 USP47 nsv524257 11 11942637 11945018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700154 S 2026 0 1 DKK3 nsv526144 11 11954471 11955605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702399 S 2026 0 1 DKK3 nsv515847 11 11970193 11973521 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668660,nssv662310,nssv686440,nssv670981,nssv665005,nssv679637,nssv699259,nssv654604,nssv658142,nssv693824,nssv654912,nssv690012,nssv663639,nssv665113,nssv687787,nssv669088 M 2026 8 8 DKK3 esv992103 11 12029274 12039008 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564181 S 3 0 1 "" HuRef nsv896994 11 12040155 12066168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563925 S 6533 1 0 "" IS30129 nsv7682 11 12044949 12080085 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3927 S 9 1 0 "" NA12878 nsv832068 11 12076913 12262203 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449021 S 95 1 0 MICAL2 esv4083 11 12109055 12109666 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26524 S 1 0 1 Single Asian sample YH MICAL2 YH esv5666 11 12109139 12109448 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28107 S 1 0 1 MICAL2 SJK nsv515573 11 12150320 12162369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682671,nssv663939,nssv682793 M 2026 0 3 MICAL2 nsv467708 11 12184257 12190304 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542915 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MICAL2 HGDP00550 esv2252219 11 12229160 12229583 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510306 S 1 0 1 MICAL2 NA18507 nsv522844 11 12277273 12294098 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698497 S 2026 0 1 MICALCL nsv527449 11 12277273 12294098 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703890 S 2026 1 0 MICALCL esv275255 11 12286497 12295373 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585877 S 1250 0 1 MICALCL esv2624026 11 12357941 12359673 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324532 S 1 0 1 PARVA NA18507 esv2411772 11 12358114 12359134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656436 S 1 0 1 PARVA NA18507 esv26204 11 12358308 12358973 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15222 S 451 0 5 PARVA NA12006,NA18505,NA18508,NA19108,NA19240 nsv896995 11 12398207 12411704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563353 S 6533 1 0 PARVA MS25966 nsv524625 11 12409320 12409617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700587 S 2026 0 1 PARVA nsv519326 11 12496335 12499458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696793 S 2026 0 1 PARVA nsv510241 11 12523098 12529098 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624250,nssv618337,nssv621514,nssv622328 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv896996 11 12531615 12637309 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525617 S 6533 1 0 "" SP56731 esv2485162 11 12537539 12539089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234394 S 1 0 1 "" NA18507 nsv896997 11 12537926 12599712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557908 S 6533 0 1 "" MS22971 nsv520324 11 12552583 12562684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690094,nssv662922 M 2026 0 2 "" esv2613422 11 12560695 12562274 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181663 S 1 0 1 "" NA18507 nsv510242 11 12588329 12594329 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624253 S 4 0 1 "" NA18994 nsv7683 11 12591132 12625561 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3928 S 9 1 0 "" NA12878 esv1006954 11 12615043 12619428 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565462 S 3 1 0 "" HuRef nsv825769 11 12625863 12682017 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439113 S 31 1 0 TEAD1 NA18973 nsv519735 11 12796085 12822017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694344 S 2026 0 1 TEAD1 esv2422965 11 12899338 12900915 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365994 S 1 0 1 TEAD1 NA18507 esv2139118 11 12900140 12900781 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515414 S 1 0 1 TEAD1 NA18507 esv2483449 11 12900314 12900590 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251247 S 1 0 1 TEAD1 NA18507 nsv38509 11 12900319 12900595 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57087 M 24 TEAD1 esv9239 11 12900320 12900590 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31680 S 1 0 1 TEAD1 SJK nsv521519 11 12949725 12950688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698136 S 2026 0 1 "" esv275080 11 12959776 12963297 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585762,essv2585236 M 1250 1 1 LOC100506305 esv2596863 11 12993917 12995041 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192021 S 1 1 0 "" NA18507 esv269257 11 13048739 13048824 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518785 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 esv22753 11 13061805 13070709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17428 S 451 0 1 "" NA18505 nsv896998 11 13129535 13202798 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536204 S 6533 1 0 "" MS12648 nsv523078 11 13153614 13165951 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698768 S 2026 1 0 "" esv24912 11 13255565 13256265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20386 S 451 0 1 ARNTL NA12239 esv26686 11 13266269 13271357 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18788 S 451 1 0 ARNTL NA18909 esv1098876 11 13464885 13464988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961668 S 2 0 1 "" HuRef esv2467574 11 13522144 13523783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231941 S 1 0 1 "" NA18507 esv2277633 11 13522355 13522967 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599505 S 1 0 1 "" NA18507 esv7874 11 13522478 13522882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30315 S 1 0 1 "" SJK esv7006 11 13532297 13578220 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29447 S 1 0 0 "" SJK nsv7684 11 13539835 13584509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8883 S 9 0 1 "" NA12156 nsv507582 11 13574907 13580907 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619283 S 4 1 0 "" NA10860 esv27926 11 13584845 13585911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9879 S 451 0 1 "" NA18508 nsv519811 11 13584883 13585594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662188,nssv663696,nssv678062,nssv690386,nssv690252,nssv658869,nssv662461 M 2026 0 7 "" nsv832069 11 13722997 13898818 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449022 S 95 1 0 "" esv1945492 11 13723828 13724295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587615 S 1 0 1 "" NA18507 esv1159375 11 13724062 13724151 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970725 S 2 0 1 "" HuRef esv273484 11 13769569 13769918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581390 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv270337 11 13769573 13769914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522933,essv2556672,essv2568162,essv2577337,essv2576696,essv2550849,essv2525460,essv2535170,essv2554064,essv2520551,essv2547280,essv2529103,essv2558259,essv2553530,essv2520056,essv2530658,essv2562055,essv2537379,essv2520901,essv2544660,essv2523737,essv2552745,essv2541376,essv2524534,essv2534728,essv2561047,essv2566040,essv2532535,essv2567814,essv2528715,essv2563575,essv2553214,essv2535741,essv2528005,essv2534117,essv2572978,essv2534431,essv2531515,essv2526936,essv2560676,essv2560356,essv2533168,essv2524937 M 157 43 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11931,NA11994,NA11995,NA12043,NA12154,NA12155,NA12156,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12763,NA12815,NA12873,NA12874,NA12878,NA18498,NA18526,NA18537,NA18542,NA18545,NA18555,NA18561,NA18562,NA18572,NA18576,NA18577,NA18579,NA18603,NA18605,NA18608,NA18907,NA18916,NA18942,NA18959,NA18961,NA19005,NA19116,NA19190 nsv896999 11 13851048 13897115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601052 S 6533 0 1 "" IS41964 esv1010796 11 13860852 13863963 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564949 S 3 0 1 "" HuRef nsv897000 11 13869322 13903441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600677 S 6533 0 1 "" IS41909 dgv1033n71 11 13877188 13903441 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897001,nsv897003,nsv897002 M 6533 0 3 "" IS35492,MS21189,MS22122 nsv526762 11 13882655 13891504 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703113 S 2026 0 1 "" nsv39354 11 13899466 13899515 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57932 M 24 "" esv271470 11 13900621 13906796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494654,essv2505350,essv2493903 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18853,NA19210 nsv897004 11 13980710 14024827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502259 S 6533 0 1 SPON1 SP51016 esv2597158 11 14081194 14082715 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170533 S 1 0 1 SPON1 NA18507 esv1173943 11 14138685 14138771 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3910836 S 2 0 1 SPON1 HuRef esv1763444 11 14139261 14139261 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081195 S 2 1 0 SPON1 HuRef esv29123 11 14230390 14230860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17923 S 451 0 1 SPON1 NA18505 esv990130 11 14253655 14256941 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564716 S 3 1 0 RRAS2 HuRef esv4848 11 14304775 14305289 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27289 S 1 0 1 Single Asian sample YH RRAS2 YH nsv38548 11 14304887 14305202 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57126 M 24 RRAS2 esv990812 11 14304888 14305203 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572440 S 3 0 1 RRAS2 HuRef esv1753534 11 14304901 14305217 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787736 S 2 0 1 RRAS2 HuRef esv6194 11 14304902 14305221 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28635 S 1 0 1 RRAS2 SJK esv25684 11 14336615 14337592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19246 S 451 0 1 RRAS2 NA07045 esv32960 11 14431664 14468738 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98839,essv99856 M 51 0 2 COPB1 21606,22086 nsv7685 11 14509455 14541862 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6449 S 9 1 0 PSMA1 NA12156 nsv518508 11 14590066 14601002 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695949 S 2026 0 1 PSMA1 nsv517985 11 14598458 14646768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694188 S 2026 0 1 PDE3B,PSMA1 esv269583 11 14604238 14610312 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500864,essv2511764,essv2494130,essv2493277,essv2494940,essv2505301,essv2505854,essv2507040,essv2506997,essv2497517 M 157 10 0 Samples from several populations that are part of the HapMap project. PSMA1 NA11830,NA18499,NA18502,NA18504,NA18520,NA18853,NA18861,NA18870,NA19102,NA19147 nsv897005 11 14692835 14729890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518222 S 6533 0 1 PDE3B SP57472 esv1063774 11 14819851 14819851 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241462 S 2 1 0 PDE3B HuRef nsv832071 11 14832998 15005746 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449023 S 95 0 1 CALCA,CYP2R1,PDE3B nsv897006 11 14874884 15050633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503987 S 6533 1 0 CALCA SP52147 nsv897007 11 14874884 15216700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558658 S 6533 1 0 CALCA,CALCB,INSC MS23472 nsv897008 11 14901221 15077706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552685 S 6533 0 1 CALCA,CALCB MS19584 nsv7686 11 15013785 15048468 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2859 S 9 1 0 "" NA18555 nsv507583 11 15027718 15033718 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623318 S 4 1 0 "" NA18994 nsv897009 11 15122777 15138190 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503988 S 6533 1 0 INSC SP52147 nsv897010 11 15175834 15235997 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503989 S 6533 1 0 INSC SP52147 nsv516403 11 15182763 15184630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688651,nssv702965,nssv668096,nssv673302,nssv654987 M 2026 0 5 INSC nsv832072 11 15183419 15348766 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449024 S 95 1 0 INSC esv2015802 11 15241898 15242471 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772462 S 1 0 1 "" NA18507 esv274159 11 15464018 15464415 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579178 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv21795 11 15480439 15481869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14603,esv17382 M 451 0 2 "" NA18502,NA19114 nsv469886 11 15572079 15742519 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649907 M 265 0 0 Samples from several populations that are part of the HapMap project. "" esv2074057 11 15574009 15574453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865647 S 1 0 1 "" NA18507 nsv897011 11 15584431 15674247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563354 S 6533 1 0 "" MS25966 nsv510243 11 15603894 15609894 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624257 S 4 0 1 "" NA18994 nsv518531 11 15645967 15732850 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695974 S 2026 1 0 "" nsv832073 11 15778985 15940654 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449025 S 95 1 0 "" esv269047 11 15858653 15858981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507648,essv2508177,essv2501616,essv2507412,essv2495564,essv2493100 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18576,NA18579,NA18608,NA18912,NA18916,NA18951 nsv832074 11 15883681 16057348 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449026 S 95 0 1 SOX6 nsv818799 11 15887048 15903379 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417665 S 112 0 1 "" NA18994 nsv522229 11 15897675 15903379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694146 S 2026 0 1 "" esv268643 11 15976532 15976617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517428,essv2514110,essv2518666,essv2515161,essv2518013,essv2514477,essv2517720,essv2513668 M 157 8 0 Samples from several populations that are part of the HapMap project. SOX6 NA07347,NA11918,NA12043,NA12045,NA12812,NA12872,NA12874,NA12878 esv273859 11 15976532 15976617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581414 S 7 1 0 Samples from several populations that are part of the HapMap project. SOX6 NA12878 esv1378524 11 15976570 15976570 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647642 S 2 1 0 SOX6 HuRef esv8667 11 16017716 16017797 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31108 S 1 1 0 SOX6 SJK esv272587 11 16042338 16042915 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580976,essv2579773 M 7 2 0 Samples from several populations that are part of the HapMap project. SOX6 NA19238,NA19240 esv271326 11 16042532 16042834 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494178,essv2493604,essv2498541,essv2505707,essv2504866,essv2497663,essv2511953 M 157 7 0 Samples from several populations that are part of the HapMap project. SOX6 NA18502,NA18517,NA18858,NA18861,NA19099,NA19147,NA19238 dgv1034n71 11 16145902 16264276 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897013,nsv897012,nsv897014 M 6533 0 3 SOX6 IS39011,SP52704,SP54030 nsv467710 11 16175917 16223316 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542916 S 1557 0 1 SOX6 1780862001_A nsv435922 11 16184258 16191031 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466642 S 2 0 1 SOX6 NA15510 nsv897015 11 16192538 16264276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551798 S 6533 0 1 SOX6 MS18978 esv2461915 11 16192896 16194294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242225 S 1 0 1 SOX6 NA18507 esv2631763 11 16275962 16277465 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165198 S 1 0 1 SOX6 NA18507 nsv510244 11 16278236 16284236 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622331,nssv624258,nssv618338,nssv621518 M 4 0 4 SOX6 CHM,NA10860,NA15510,NA18994 nsv832075 11 16348276 16447510 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449027 S 95 1 0 SOX6 nsv897016 11 16412370 16648319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581724 S 6533 0 1 SOX6 IS35701 esv2051843 11 16424861 16425340 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697207 S 1 0 1 SOX6 NA18507 esv997005 11 16538673 16538724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580784 S 3 0 1 "" HuRef esv1732258 11 16538673 16538725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648094 S 2 0 1 "" HuRef esv2817 11 16543664 16543935 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25258 S 1 0 1 Single Asian sample YH "" YH dgv20n6 11 16543739 16543875 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv39792,nsv39678 M 24 "" esv2078648 11 16553952 16554671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557595 S 1 0 1 "" NA18507 esv4048 11 16554102 16554517 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26489 S 1 0 1 Single Asian sample YH "" YH dgv21n6 11 16554140 16554477 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv38701,nsv39144 M 24 "" esv1010006 11 16554145 16554467 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572640 S 3 0 1 "" HuRef esv8413 11 16554153 16554466 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30854 S 1 0 1 "" SJK esv1023142 11 16554154 16554477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794828 S 2 0 1 "" HuRef nsv832076 11 16607449 16648384 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449038,nssv1449036,nssv1449037,nssv1449035,nssv1449034,nssv1449033,nssv1449029,nssv1449032,nssv1449031,nssv1449030 M 95 0 10 "" nsv7687 11 16677382 16710613 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3929 S 9 1 0 "" NA12878 esv23566 11 16716894 16717704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11207 S 451 0 1 C11orf58 NA18858 esv2571561 11 16734604 16736075 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274756 S 1 0 1 C11orf58 NA18507 nsv832077 11 16791121 17015752 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449040 S 95 0 1 PLEKHA7 esv1010246 11 16862123 16862175 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580585 S 3 0 1 PLEKHA7 HuRef nsv825770 11 16864659 16869113 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421996 S 31 1 0 PLEKHA7 NA18997 nsv7688 11 16869335 16896380 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10805 S 9 0 1 PLEKHA7 NA18956 essv3438 11 16871867 16890706 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PLEKHA7 NA18956 nsv7689 11 16902529 16947428 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8884 S 9 0 1 PLEKHA7 NA12156 esv2653384 11 16951982 16953787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261347 S 1 0 1 PLEKHA7 NA18507 esv2185277 11 16952578 16953362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699498 S 1 0 1 PLEKHA7 NA18507 esv3619 11 16952674 16953282 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26060 S 1 0 1 Single Asian sample YH PLEKHA7 YH esv1324947 11 16952754 16953178 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018464 S 2 0 1 PLEKHA7 HuRef esv5847 11 16952758 16953169 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28288 S 1 0 1 PLEKHA7 SJK nsv825771 11 16983805 17004936 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439114 S 31 1 0 PLEKHA7 NA18973 nsv467711 11 16984131 17277373 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542917 S 1557 1 0 NUCB2,OR7E14P,PIK3C2A,PLEKHA7,RPS13 NINDS_241 nsv7691 11 17108169 17153470 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8885 S 9 0 1 PIK3C2A NA12156 nsv469762 11 17127266 17277267 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649783 M 265 0 0 Samples from several populations that are part of the HapMap project. NUCB2,PIK3C2A esv2524703 11 17151692 17153321 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201016 S 1 0 1 "" NA18507 dgv6e194 11 17152225 17152919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2132064,esv2341477 M 1 0 1 "" NA18507 esv8980 11 17152413 17152736 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31421 S 1 0 1 "" SJK esv21694 11 17166514 17167872 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14430 S 451 0 17 "" NA07045,NA11993,NA18502,NA18505,NA18508,NA18511,NA18523,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv7692 11 17244181 17277944 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8886 S 9 1 0 NUCB2 NA12156 nsv524611 11 17257420 17272605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700572 S 2026 0 1 NUCB2 nsv897017 11 17274812 17300062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513342 S 6533 0 1 NUCB2 SP55747 nsv469895 11 17324846 17540796 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649916 M 265 0 25 Samples from several populations that are part of the HapMap project. ABCC8,B7H6,KCNJ11,USH1C nsv467712 11 17350220 17375053 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542918 S 1557 0 1 ABCC8,B7H6,KCNJ11 NINDS_66 dgv59n21 11 17357710 17391790 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528959,nsv517772 M 2026 0 22 ABCC8,KCNJ11 nsv897018 11 17360215 17373913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510002 S 6533 0 1 ABCC8,KCNJ11 SP54956 nsv482158 11 17363374 17366782 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558519 S 1 1 0 KCNJ11 KB1 nsv467713 11 17364601 17397049 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542919 S 1557 0 1 ABCC8,KCNJ11 NINDS_49 dgv1035n71 11 17432019 17456123 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897019,nsv897022 M 6533 2 0 ABCC8 MS16361,MS23340 dgv1036n71 11 17433092 17447962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897020,nsv897021 M 6533 0 3 ABCC8 IS38390,IS40757,SP56914 esv24705 11 17466712 17467423 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10960 S 451 10 0 "" NA11894,NA11995,NA12044,NA12239,NA12489,NA12878,NA18502,NA18505,NA18909,NA19108 nsv467714 11 17469723 17478401 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542920 S 1557 0 1 USH1C NINDS_258 esv33415 11 17489172 17506012 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101348,essv92533,essv100270 M 51 0 3 USH1C 21805,22233,22286 nsv7693 11 17513364 17558347 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8887 S 9 0 1 USH1C NA12156 nsv7694 11 17521008 17543080 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3930 S 9 1 0 USH1C NA12878 esv1681924 11 17530707 17530707 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745988 S 2 1 0 "" HuRef esv22735 11 17549579 17550804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14476 S 451 0 2 "" NA18505,NA19225 nsv469938 11 17571779 17612724 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546077,nssv546075 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543,HGDP00546 nsv467715 11 17572231 17612724 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542921 S 1557 0 1 "" NINDS_172 nsv897023 11 17574044 17624137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549822 S 6533 0 1 "" MS18276 nsv897024 11 17574044 17648587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546781 S 6533 0 1 "" MS17208 nsv897025 11 17576484 17597076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499540 S 6533 0 1 "" SP50159 nsv520453 11 17581854 17612724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671583,nssv702588,nssv687020 M 2026 0 3 "" esv2003029 11 17659651 17660052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937936 S 1 0 1 "" NA18507 nsv825772 11 17680106 17739704 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439115 S 31 1 0 KCNC1,MYOD1 NA18973 esv8313 11 17689243 17689494 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30754 S 1 0 1 "" SJK nsv39699 11 17689383 17689454 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58277 M 24 "" esv1683674 11 17689601 17689673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310538 S 2 0 1 "" HuRef nsv509390 11 17704316 17833419 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623850 S 4 1 0 KCNC1,SERGEF NA18994 nsv521511 11 17705604 17728063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698129 S 2026 0 1 KCNC1 nsv516767 11 17715163 17766300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682282,nssv670708,nssv687100,nssv660208 M 2026 0 4 KCNC1,SERGEF nsv825773 11 17717467 17718025 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421998 S 31 0 1 KCNC1 NA18997 nsv832078 11 17737079 17910097 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449041 S 95 0 1 KCNC1,SERGEF nsv515890 11 17772988 17777758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665165,nssv669740 M 2026 0 2 SERGEF nsv526501 11 17772988 17780948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702810 S 2026 0 1 SERGEF nsv897026 11 17779872 18041454 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525949 S 6533 1 0 SERGEF,TPH1 SP56903 esv1955784 11 17850192 17850634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545143 S 1 0 1 SERGEF NA18507 nsv832079 11 17884543 18004319 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449042 S 95 0 1 SERGEF,TPH1 esv5041 11 17903142 17903579 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27482 S 1 0 1 Single Asian sample YH SERGEF YH esv2101877 11 17903166 17903609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774558 S 1 0 1 SERGEF NA18507 esv989849 11 17903353 17903431 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567143 S 3 0 1 SERGEF HuRef esv1127023 11 17903390 17903469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606543 S 2 0 1 SERGEF HuRef esv24492 11 18028022 18028866 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18541 S 451 0 1 "" NA19257 esv1019458 11 18032486 18032486 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807620 S 2 1 0 "" HuRef esv25697 11 18054181 18056642 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16818 S 451 0 4 "" NA07045,NA12749,NA12776,NA12828 esv23532 11 18095238 18157293 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16635,esv11709 M 451 6 0 MRGPRX3,MRGPRX4 NA06985,NA11993,NA12004,NA18523,NA18916,NA19190 nsv518373 11 18121263 18151924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695801 S 2026 0 1 MRGPRX4 esv1949763 11 18121582 18122069 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880639 S 1 0 1 "" NA18507 nsv39555 11 18121775 18121861 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58133 M 24 "" esv1004442 11 18121779 18121865 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575314 S 3 0 1 "" HuRef nsv521662 11 18182318 18183727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698279 S 2026 0 1 "" nsv519650 11 18213097 18213593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694074 S 2026 0 1 SAA2-SAA4,SAA4 esv1009214 11 18246940 18246993 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578238 S 3 0 1 SAA1 HuRef esv1646005 11 18246940 18246994 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049123 S 2 0 1 SAA1 HuRef nsv7695 11 18328802 18362407 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3931 S 9 1 0 GTF2H1 NA12878 nsv509392 11 18338229 18435321 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623857 S 4 1 0 GTF2H1,LDHA,LDHAL6A,LDHC NA18994 nsv510999 11 18338229 18435321 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618611 S 4 0 0 GTF2H1,LDHA,LDHAL6A,LDHC CHM nsv523373 11 18339487 18358107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699122 S 2026 0 1 GTF2H1 esv1004552 11 18354923 18356440 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564260 S 3 1 0 "" HuRef nsv520101 11 18358107 18362086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688063,nssv660773 M 2026 0 2 "" nsv39368 11 18382274 18382930 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57946 M 24 LDHA nsv897027 11 18392276 18455992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514453 S 6533 0 1 LDHAL6A,LDHC SP56004 nsv467719 11 18404187 18498803 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542923 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LDHAL6A,LDHC,TSG101 HGDP00423 nsv820064 11 18494259 18495297 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419157 S 2 0 1 TSG101 AK1 nsv516413 11 18584994 18600334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663411,nssv693714,nssv668198 M 2026 0 3 LOC100506540,SPTY2D1 nsv7696 11 18649492 18681485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv996 S 9 1 0 TMEM86A NA19240 nsv897028 11 18671199 18727398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533643 S 6533 0 1 IGSF22,PTPN5,TMEM86A MS11249 nsv525192 11 18679367 18749936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701271 S 2026 0 1 IGSF22,PTPN5,TMEM86A esv25440 11 18692320 18695035 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10746,esv19121 M 451 0 3 IGSF22 NA18502,NA18505,NA18858 nsv525452 11 18692523 18759079 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701580 S 2026 1 0 IGSF22,PTPN5 nsv825774 11 18692718 18693516 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432283 S 31 0 1 IGSF22 AK20 dgv347e1 11 18775305 19038644 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv837,essv10402,essv16869,essv10801,essv18632,essv24767,essv3037,essv10645,essv15680,essv17909,essv16016 M 271 0 0 MRGPRX1,MRGPRX2 NA10860,NA12003,NA12234,NA18501,NA18523,NA18855,NA18912,NA18973,NA18981,NA19205,NA19222 nsv428250 11 18775305 19038644 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452059,nssv452058 M 62 2 0 MRGPRX1,MRGPRX2 HGDP01094,NA18916 nsv832080 11 18838624 18932090 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449048,nssv1449049,nssv1449043,nssv1449044,nssv1449047,nssv1449045,nssv1449046 M 95 7 0 MRGPRX1 esv2750987 11 18844035 18931798 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985196,essv6988903 M 771 1 0 MRGPRX1 SPC_124 nsv832082 11 18846555 19004570 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449051 S 95 1 0 MRGPRX1 esv2750988 11 18860180 18918255 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983854,essv6983855 M 771 0 1 MRGPRX1 BEC_635 dgv41e55 11 18869797 18939210 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750989,esv2750991 M 771 2 0 MRGPRX1 BEC_543,BEC_576 esv270304 11 18875114 18875461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514128,essv2518116,essv2514281,essv2517168 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12872,NA12874,NA18970 esv27702 11 18881799 18955889 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12727,esv12303 M 451 39 0 MRGPRX1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv2750990 11 18882200 18918300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985700,essv6985699,essv6988932 M 771 1 0 MRGPRX1 SPC_34 nsv509393 11 18882924 18882924 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619897 S 4 1 0 "" NA10860 nsv7697 11 18884357 18938466 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10806 S 9 0 1 MRGPRX1 NA18956 dgv348e1 11 18886391 18939210 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17386,essv21954 M 271 0 0 MRGPRX1 NA07000,NA18855 nsv8793 11 18888753 18890379 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25106 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv33835 11 18889253 18944273 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101565,essv101258,essv93952,essv96860,essv94759,essv93987,essv93176,essv95250,essv97373,essv99012,essv92796,essv96146,essv96629,essv98593,essv96069,essv93193,essv92648,essv100598,essv99456,essv96294,essv94253 M 51 0 21 MRGPRX1 21603,21618,21634,21659,21791,21802,21863,21872,21879,21938,21944,22007,22011,22085,22127,22170,22233,22298,22335,22371,22394 nsv8794 11 18890379 18906533 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17890,nssv22123 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12802,NA18504 dgv42e55 11 18894043 18918300 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750995,esv2750992,esv34565,esv2750993,esv2750994 M 771 5 0 MRGPRX1 BEC_617,BEC_645,BEC_717,BEC_732,NA18505 nsv526229 11 18896242 18931436 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702495 S 2026 1 0 MRGPRX1 esv34069 11 18896898 18913106 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MRGPRX1 dgv349e1 11 18896898 18939210 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8533,essv2559,essv5766,essv7964,essv18818,essv6864,essv20707,essv1645,essv15964,essv23757,essv14819,essv3336,essv18559 M 271 0 0 MRGPRX1 NA10851,NA11994,NA12248,NA12802,NA18523,NA18540,NA18558,NA18870,NA18948,NA18961,NA18974,NA19142,NA19203 dgv43e55 11 18896898 18940971 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750998,esv2750996,esv2750997,esv2750999,esv2751020 M 771 5 0 MRGPRX1 BEC_11,BEC_299,BEC_389,BEC_402,BEC_726 nsv825776 11 18897472 18928853 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427701 S 31 0 1 MRGPRX1 AK8 nsv518570 11 18897686 18906668 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696013 S 2026 1 0 "" nsv897029 11 18897686 18938224 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516811,nssv1504801,nssv1517051,nssv1509644,nssv1512140,nssv1513787,nssv1511691,nssv1505613,nssv1507145,nssv1506151,nssv1506708 M 6533 10 1 MRGPRX1 SP52732,SP53719,SP54043,SP54395,SP54478,SP54935,SP55027,SP55310,SP55843,SP56947,SP57067 nsv825777 11 18897741 18929027 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421999 S 31 1 0 MRGPRX1 NA18997 nsv8795 11 18897800 18928886 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19636,nssv19935,nssv22794,nssv20707,nssv22935,nssv23443,nssv20908,nssv20267,nssv20159,nssv22201,nssv20678,nssv25131,nssv22153,nssv18992,nssv19938,nssv17920,nssv18041,nssv20065,nssv18229,nssv18275,nssv19953,nssv19586,nssv19924,nssv18202,nssv20439,nssv19134,nssv22362,nssv22634,nssv19790,nssv19656 M 31 30 0 Samples from several populations that are part of the HapMap project. MRGPRX1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv992072 11 18898435 18921174 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586653 S 3 0 1 MRGPRX1 HuRef nsv499319 11 18898631 18899883 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586190 S 9 1 0 "" nsv7698 11 18899443 18911757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10888,nssv10807 M 9 2 0 "" NA15510,NA18956 nsv820227 11 18902176 18928883 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418705 S 2 1 0 MRGPRX1 AK1 nsv66 11 18903769 18911757 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv66 S 1 1 0 "" NA15510 nsv436822 11 18904760 18919882 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466643 S 2 1 0 Samples from several populations that are part of the HapMap project. MRGPRX1 NA18505 nsv509394 11 18904807 19000506 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618085,nssv623860,nssv621165 M 4 3 0 MRGPRX1 CHM,NA15510,NA18994 nsv442602 11 18905648 18918564 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MRGPRX1 nsv821368 11 18905777 18921944 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420930 S 1 0 1 MRGPRX1 NA10851 dgv350e1 11 18905796 18915387 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19856,essv1323,essv6076,essv7485,essv19117,essv21350,essv8003,essv16614,essv22244,essv22017,essv21923,essv976 M 271 0 0 MRGPRX1 NA10860,NA11992,NA12044,NA12057,NA12234,NA12815,NA18561,NA18621,NA18964,NA18973,NA19208,NA19221 dgv44e55 11 18905796 18918255 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34811,esv2751004,esv2751002,esv2751005,esv2751006,esv2751001 M 771 0 6 MRGPRX1 BEC_427,BEC_512,NA11994,NA12057,SPC_167,SPC_29 dgv45e55 11 18905796 18918300 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34962,esv2751008,esv34418,esv34726,esv35169,esv2751000,esv2751003,esv2751007 M 771 8 0 MRGPRX1 BEC_22,BEC_397,BEC_462,BEC_604,BEC_725,NA18855,NA19203,NA19222 dgv351e1 11 18905796 18932028 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18039,essv7669,essv20872,essv15918,essv14020,essv19724,essv8592,essv5079,essv953,essv6100,essv4348,essv19059,essv12889,essv6447,essv19799,essv19033,essv24016,essv12050,essv13245,essv24190,essv22708,essv923,essv5958,essv3851,essv15166 M 271 0 0 MRGPRX1 NA06993,NA07034,NA07056,NA11830,NA12004,NA12145,NA12236,NA12864,NA12873,NA18522,NA18570,NA18573,NA18577,NA18592,NA18622,NA18632,NA18949,NA18953,NA18981,NA19130,NA19131,NA19205,NA19210,NA19222,NA19238 dgv46e55 11 18905796 18934700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751014,esv34291,esv2751013,esv2751009,esv2751010,esv34359,esv34575,esv34664,esv34767,esv2751011,esv2751012,esv2751015,esv2751016,esv2751017,esv2751018,esv2751019 M 771 16 0 MRGPRX1 BEC_182,BEC_191,BEC_335,BEC_361,BEC_428,BEC_446,BEC_606,BEC_688,NA10860,NA12234,NA18523,NA18964,NA19205,SPC_141,SPC_66,SPC_71 nsv825778 11 18906305 18917533 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430027,nssv1422815,nssv1439116,nssv1436892,nssv1428815,nssv1434897,nssv1430795,nssv1433866,nssv1433056,nssv1436059,nssv1441336,nssv1438337,nssv1424429,nssv1440544,nssv1428485,nssv1428374 M 31 16 0 MRGPRX1 AK14,AK16,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973 nsv514600 11 18906696 18917392 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628087 S 1414 0 0 MRGPRX1 nsv67 11 18916368 18929772 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv67 S 1 1 0 "" NA15510 nsv7699 11 18916368 18929772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10808,nssv10889 M 9 2 0 "" NA15510,NA18956 esv5259 11 18920482 18942885 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27700 S 1 0 1 Single Asian sample YH "" YH nsv526034 11 19006054 19032203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702265 S 2026 0 1 "" nsv897030 11 19006054 19062621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558611 S 6533 0 1 MRGPRX2 MS23423 esv271353 11 19339314 19339656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565655,essv2540755,essv2571570,essv2536679,essv2522752,essv2570993,essv2523435,essv2577239,essv2570355,essv2521581,essv2520417,essv2529119,essv2564671,essv2559761,essv2520221,essv2555041,essv2551752,essv2544597,essv2562804,essv2523767,essv2552934,essv2540592,essv2524533,essv2565045,essv2534933,essv2560983,essv2539702,essv2519712,essv2559805,essv2522147,essv2566140,essv2531178,essv2532610,essv2567916,essv2567292,essv2541622,essv2569884,essv2553246,essv2535851,essv2572199,essv2559148,essv2533865,essv2578289,essv2573139,essv2555625,essv2567017,essv2531305,essv2577062,essv2525551,essv2551480,essv2536189,essv2538125,essv2533130,essv2547888 M 157 54 0 Samples from several populations that are part of the HapMap project. NAV2 NA06986,NA07000,NA07051,NA07347,NA11829,NA11831,NA11840,NA11920,NA11931,NA11993,NA12004,NA12043,NA12044,NA12144,NA12716,NA12749,NA12751,NA12776,NA12815,NA12872,NA18504,NA18526,NA18532,NA18537,NA18542,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18916,NA18940,NA18942,NA18945,NA18947,NA18961,NA18970,NA18980,NA19257 nsv825779 11 19364442 19364892 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426001 S 31 0 1 NAV2 AK4 esv26763 11 19380876 19382698 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11337 S 451 1 0 NAV2 NA18909 essv13326 11 19439936 19450983 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NAV2 NA18500 esv22573 11 19448788 19452177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14709 S 451 0 1 NAV2 NA18502 nsv524289 11 19449210 19450983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700189 S 2026 0 1 NAV2 esv2619010 11 19511307 19512901 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305502 S 1 0 1 NAV2 NA18507 esv2397419 11 19511645 19512313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928372 S 1 0 1 NAV2 NA18507 esv29003 11 19535427 19537543 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20829 S 451 0 1 NAV2 NA19257 esv1174411 11 19597038 19597038 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317261 S 2 1 0 NAV2 HuRef esv2289070 11 19607990 19608403 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948472 S 1 0 1 NAV2 NA18507 nsv897031 11 19684376 19727374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556121,nssv1539544,nssv1557080,nssv1557814 M 6533 0 4 LOC100126784,NAV2 MS14359,MS21814,MS22353,MS22898 nsv523404 11 19711264 19721589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699155 S 2026 0 1 NAV2 nsv526704 11 19727374 19727630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703043 S 2026 0 1 NAV2 nsv524136 11 19827888 19830065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700014 S 2026 0 1 NAV2 esv1611893 11 19838015 19838189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587632 S 2 0 1 NAV2 HuRef nsv519433 11 19850853 19855450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696851 S 2026 0 1 NAV2 esv270078 11 19866482 19872598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504545 S 157 1 0 Samples from several populations that are part of the HapMap project. NAV2 NA18563 nsv7700 11 19868547 19902141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv997 S 9 1 0 NAV2 NA19240 esv2617564 11 19919206 19920091 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191836 S 1 1 0 NAV2 NA18507 esv273349 11 19919533 19919911 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578881 S 7 1 0 Samples from several populations that are part of the HapMap project. NAV2 NA19239 esv268827 11 19919549 19919889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571644,essv2536377,essv2520619,essv2558585,essv2565479,essv2520750,essv2557552,essv2562668,essv2569416,essv2561396,essv2552883,essv2542732,essv2540227,essv2524313,essv2539862,essv2521954,essv2566202,essv2530909,essv2532824,essv2567642,essv2541847,essv2563591,essv2553152,essv2559225,essv2566980,essv2542133,essv2543770,essv2527911,essv2539297,essv2533816,essv2578118,essv2573245,essv2533735,essv2573902,essv2557610,essv2555933,essv2531655,essv2573536,essv2577014,essv2525661,essv2529483,essv2575598,essv2538770,essv2560759,essv2572701,essv2568667,essv2560471,essv2571260,essv2545968,essv2574096,essv2551271,essv2532940 M 157 52 0 Samples from several populations that are part of the HapMap project. NAV2 NA07051,NA11840,NA11920,NA12716,NA12750,NA12812,NA18498,NA18499,NA18507,NA18508,NA18523,NA18542,NA18550,NA18552,NA18555,NA18563,NA18571,NA18572,NA18573,NA18576,NA18582,NA18592,NA18603,NA18605,NA18638,NA18853,NA18856,NA18870,NA18907,NA18912,NA18916,NA18940,NA18942,NA18944,NA18951,NA18953,NA18956,NA18961,NA18964,NA18970,NA18980,NA19093,NA19099,NA19108,NA19116,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 nsv528404 11 19944988 19946802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704996 S 2026 0 1 NAV2 nsv518583 11 19949373 19975334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696028 S 2026 0 1 NAV2 nsv524632 11 19976233 19976673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700596 S 2026 0 1 NAV2 nsv522845 11 19976434 19980715 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698498 S 2026 1 0 NAV2 nsv818801 11 19976434 19980715 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417718 S 112 1 0 NAV2 NA18999 nsv516382 11 20025540 20035072 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668503,nssv667933 M 2026 2 0 NAV2 nsv524463 11 20063755 20075949 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700397 S 2026 0 1 NAV2 nsv469939 11 20075874 20694958 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546078 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DBX1,HTATIP2,NAV2,NELL1,PRMT3,SLC6A5 HGDP00715 nsv467720 11 20075874 20696697 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542924 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DBX1,HTATIP2,NAV2,NELL1,PRMT3,SLC6A5 HGDP00715 esv22357 11 20094263 20095294 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17323 S 451 0 1 NAV2 NA18907 nsv825780 11 20098896 20099518 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422000 S 31 1 0 NAV2 NA18997 esv274912 11 20148509 20151382 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585988 S 1250 0 1 "" esv3663 11 20152242 20152512 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26104 S 1 0 1 Single Asian sample YH "" YH nsv471750 11 20152256 20152488 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646031 M 0.484 95 "" nsv467721 11 20193028 20232522 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542925 S 1557 0 1 "" 1780862575_A esv1496629 11 20211270 20211270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826883 S 2 1 0 "" HuRef nsv523776 11 20248669 20255374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699599 S 2026 0 1 "" nsv832083 11 20297075 20468273 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449052 S 95 1 0 HTATIP2,PRMT3 nsv7702 11 20324779 20360007 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3932 S 9 1 0 HTATIP2 NA12878 esv2616116 11 20380495 20381952 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297090 S 1 0 1 PRMT3 NA18507 esv3723 11 20393494 20393800 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26164 S 1 0 1 Single Asian sample YH PRMT3 YH nsv524455 11 20510265 20522952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700388 S 2026 0 1 "" esv2595574 11 20525121 20528588 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186157 S 1 0 1 "" NA18507 esv9305 11 20525760 20527758 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31746 S 1 0 1 "" SJK nsv509395 11 20557326 20645061 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623864 S 4 1 0 SLC6A5 NA18994 nsv523326 11 20596440 20601336 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699070 S 2026 1 0 SLC6A5 nsv7703 11 20610903 20658213 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1928,nssv8888 M 9 0 2 NELL1,SLC6A5 NA12156,NA18555 nsv39323 11 20623815 20630083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57901 M 24 SLC6A5 nsv897032 11 20636980 20834752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508947 S 6533 0 1 NELL1 SP54652 esv5522 11 20638336 20638389 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27963 S 1 1 0 "" SJK esv2401358 11 20642463 20642906 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905110 S 1 0 1 "" NA18507 nsv519547 11 20646062 20658610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656821,nssv681402,nssv697904 M 2026 0 3 NELL1 nsv467722 11 20646593 20716570 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542926 S 1557 0 1 NELL1 1782681313_A nsv825781 11 20710233 20710678 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434908 S 31 1 0 NELL1 NA18592 esv26893 11 20710247 20710828 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18483 S 451 10 0 NELL1 NA06985,NA07037,NA12156,NA12489,NA18502,NA18511,NA18916,NA19108,NA19190,NA19240 esv1219105 11 20752116 20752392 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261047 S 2 0 1 NELL1 HuRef esv24148 11 20801138 20806531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19012,esv15099 M 451 0 4 NELL1 NA07037,NA11931,NA11995,NA12414 esv2602008 11 20872705 20874239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359813 S 1 0 1 NELL1 NA18507 esv2350625 11 20872924 20873627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753433 S 1 0 1 NELL1 NA18507 nsv517915 11 20911760 20920147 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695327 S 2026 1 0 NELL1 dgv1037n71 11 20951748 20980950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897034,nsv897033 M 6533 0 2 NELL1 MS10756,MS13319 nsv832084 11 20956176 21148694 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449054,nssv1449053 M 95 2 0 NELL1 nsv7704 11 20995557 21040521 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8889 S 9 0 1 NELL1 NA12156 nsv428251 11 21101718 21261823 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452060 S 62 0 1 NELL1 NA19225 dgv352e1 11 21112669 21174258 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8272,essv11615,essv10602 M 271 0 0 NELL1 NA19153,NA19207,NA19211 essv16605 11 21112669 21187246 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NELL1 NA19208 nsv832085 11 21115236 21289022 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449055 S 95 0 1 NELL1 nsv897035 11 21130230 21197248 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536205 S 6533 1 0 NELL1 MS12648 dgv31n17 11 21140569 21177707 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437703,nsv437700 M 60 0 2 NELL1 NA19208,NA19211 nsv8796 11 21143340 21172920 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20938 S 31 0 1 Samples from several populations that are part of the HapMap project. NELL1 NA19144 esv27583 11 21144932 21172496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18127 S 451 0 1 NELL1 NA19225 esv2421865 11 21145601 21172421 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5145179,essv5131099,essv5058317,essv5155192,essv5008330,essv5108502,essv5034303,essv5004364,essv5030916,essv5092443,essv5012556,essv5027265,essv5026085,essv5020406,essv5016714,essv5035429,essv5006061,essv5089862,essv5146376,essv5003325,essv5133538,essv5051095,essv5116919,essv5131107,essv5072948,essv5055673,essv5120545,essv5013967,essv5039822,essv5150310,essv5091460,essv5011156,essv5080374,essv5150714,essv5106222,essv5077324 M 1184 0 36 NELL1 NA19117,NA19144,NA19153,NA19181,NA19182,NA19207,NA19208,NA19209,NA19211,NA19214,NA19215,NA19225,NA19235,NA19237,NA19239,NA19307,NA19311,NA19347,NA19352,NA19360,NA19376,NA19379,NA19382,NA19393,NA19396,NA19397,NA19434,NA19437,NA19472,NA21301,NA21302,NA21344,NA21476,NA21477,NA21491,NA21719 dgv133n27 11 21145601 21173428 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467726,nsv467723,nsv467724,nsv467725 M 1557 0 4 NELL1 HGDP00915,HGDP01274,HGDP01408,HGDP01411 nsv469940 11 21145601 21173428 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546080,nssv546081,nssv546079,nssv546083,nssv546082 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NELL1 HGDP00915,HGDP01274,HGDP01408,HGDP01411,HGDP01413 nsv515818 11 21145601 21173428 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661633,nssv686941,nssv651997,nssv685452,nssv658490,nssv691867,nssv685707,nssv664754,nssv673274,nssv685723,nssv663880,nssv671389,nssv693929,nssv684984,nssv686216,nssv670159,nssv658121,nssv674298,nssv665966,nssv664248,nssv661195,nssv683612,nssv688147,nssv682533,nssv674826,nssv660823,nssv681075,nssv653091,nssv684749,nssv685194,nssv688042 M 2026 0 31 NELL1 nsv818802 11 21145601 21173428 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416860,nssv1418182,nssv1418183 M 112 0 3 NELL1 NA19144,NA19145,NA19239 essv14684 11 21148024 21174258 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NELL1 NA19145 essv9839 11 21148024 21194273 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NELL1 NA19144 nsv442603 11 21149965 21166513 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NELL1 nsv514601 11 21150328 21166518 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628088 S 1414 0 0 NELL1 nsv437704 11 21150466 21173428 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467585 S 60 0 1 Samples from several populations that are part of the HapMap project. NELL1 NA19145 nsv507584 11 21280456 21286456 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617810 S 4 1 0 NELL1 CHM nsv897036 11 21302941 21385711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549575 S 6533 1 0 NELL1 MS18273 nsv897037 11 21308521 21340676 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557036 S 6533 1 0 NELL1 MS22338 nsv825782 11 21341580 21394264 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439117 S 31 0 1 NELL1 NA18973 nsv522335 11 21356692 21386464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695115 S 2026 0 1 NELL1 esv22497 11 21379622 21381611 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14168 S 451 0 1 NELL1 NA18517 nsv521699 11 21399638 21403906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698321 S 2026 0 1 NELL1 nsv516969 11 21403384 21403906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653532,nssv668044,nssv659768,nssv679464,nssv687286,nssv681297,nssv664973 M 2026 0 7 NELL1 nsv832086 11 21438545 21568649 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449056 S 95 1 0 NELL1 esv275259 11 21471155 21472530 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585690 S 1250 0 1 NELL1 nsv469712 11 21513423 21681734 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649733 M 265 0 3 Samples from several populations that are part of the HapMap project. NELL1 nsv897038 11 21562329 21714881 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536206 S 6533 1 0 "" MS12648 nsv897039 11 21610642 21662590 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593125 S 6533 1 0 "" IS39361 esv28891 11 21625792 21626576 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18173 S 451 1 0 "" NA07045 nsv825783 11 21632193 21632717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424431 S 31 1 0 "" NA18582 nsv897040 11 21662590 21736776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593266 S 6533 0 1 "" IS39391 nsv897041 11 21662590 21947563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501594 S 6533 0 1 "" SP50900 nsv442604 11 21671128 21679716 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv7705 11 21676807 21707314 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3934 S 9 1 0 "" NA12878 nsv519043 11 21680047 21681310 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696513 S 2026 0 1 "" dgv1038n71 11 21720203 21822951 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897043,nsv897042 M 6533 0 2 "" IS37848,IS40759 esv1001322 11 21721655 21722447 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586284 S 3 1 0 "" HuRef dgv353e1 11 21740206 21805311 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16593,essv13119 M 271 0 0 "" NA18859,NA18860 esv2316248 11 21745469 21745876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497815 S 1 0 1 "" NA18507 esv270225 11 21753426 21753564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494609,essv2497164,essv2500051,essv2507831,essv2511290,essv2500652,essv2494423,essv2512690,essv2508152,essv2499233,essv2507522,essv2511667,essv2495230 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18550,NA18552,NA18558,NA18564,NA18570,NA18571,NA18572,NA18577,NA18579,NA18605,NA18638,NA18940,NA18964 nsv8797 11 21762262 21802697 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23471 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv526951 11 21786940 21796469 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703323 S 2026 0 1 "" nsv526961 11 21787842 21793805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703333 S 2026 0 1 "" nsv897044 11 21788196 21871965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522018 S 6533 0 1 "" SP52694 nsv522575 11 21793805 21804954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705959 S 2026 0 1 "" nsv8798 11 21803616 21805985 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20189,nssv22664 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19173 dgv200n67 11 21803699 21805851 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825785,nsv825784 M 31 0 5 "" AK20,NA18542,NA18582,NA18592,NA18997 esv7899 11 21803841 21805988 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30340 S 1 0 1 "" SJK esv25106 11 21803877 21805953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18800 S 451 0 7 "" NA18508,NA18517,NA18523,NA18907,NA18916,NA19129,NA19257 esv2421905 11 21804082 21805328 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158368,essv5079275,essv5115005,essv5119709,essv5072313,essv5097401,essv5121654,essv5140730,essv5141527,essv5047948,essv5101528,essv5028988,essv5043161,essv5137958,essv5075869,essv5121826,essv5066703,essv5089196,essv5007412,essv5137197,essv5110131,essv5119250,essv5007605,essv5030714,essv5156940,essv5059355,essv5089630,essv5091451,essv5146368,essv5025188,essv5044696,essv5048858,essv5084319,essv5022242,essv5078437,essv5004760,essv5031583,essv5068053,essv5088242,essv5147477,essv5124274,essv5138231,essv5138325,essv5011204,essv5105700,essv5109027,essv5160161,essv5065481,essv5057547,essv5109515,essv5073866,essv5008993,essv5044952,essv5102400,essv5015734,essv5156690,essv5037238,essv5066609,essv5138902,essv5015143,essv5020908,essv5153271,essv5110025,essv5149221,essv5095287,essv5098285,essv5002838,essv5060515,essv5127711,essv5056818,essv5138083,essv5012122,essv5068889,essv5122554,essv5051052,essv5003959,essv5032674,essv5134951,essv5161045,essv5020295,essv5026610,essv5047989,essv5051748,essv5129000,essv5098617,essv5157629,essv5096574,essv5030205,essv5071148,essv5077712,essv5045642,essv5145703,essv5148799,essv5116413,essv5075437,essv5020154,essv5138578,essv5103578,essv5117142,essv5127150,essv5064694,essv5009501,essv5036714,essv5089451,essv5117406,essv5129602,essv5015023,essv5081501,essv5053605,essv5094111,essv5028551,essv5055158,essv5157403,essv5122978,essv5061976,essv5147542,essv5037875,essv5053228,essv5019821,essv5040083,essv5082495,essv5130449,essv5134980,essv5149548,essv5130245,essv5044421,essv5065046,essv5049128,essv5095036,essv5103193,essv5030303,essv5150372,essv5009463,essv5127243,essv5030566,essv5068424,essv5035706,essv5115722,essv5127725,essv5157340,essv5105833,essv5059741,essv5029943,essv5055814,essv5147189,essv5137923,essv5016861,essv5156847,essv5142167,essv5158706,essv5027528,essv5120072,essv5020296,essv5058282,essv5047202,essv5125266,essv5121639,essv5065262,essv5064731,essv5158804,essv5087586,essv5073628,essv5072848,essv5100184,essv5150970,essv5098822,essv5021086,essv5109887,essv5100539,essv5131152,essv5085175,essv5032878,essv5059789,essv5037799,essv5157826,essv5080215,essv5016268,essv5034999,essv5123435,essv5105883,essv5044240,essv5057897,essv5136634,essv5023971,essv5003038,essv5065301,essv5154869,essv5047794,essv5034977,essv5156858,essv5009931,essv5107550,essv5027942,essv5145236,essv5039097,essv5047449,essv5067263,essv5084171 M 1184 0 198 "" NA07435,NA10843,NA10846,NA10853,NA11843,NA11919,NA11930,NA12144,NA12344,NA12348,NA12376,NA12546,NA12748,NA12777,NA17970,NA17974,NA17981,NA17986,NA17988,NA18107,NA18118,NA18129,NA18131,NA18133,NA18134,NA18136,NA18153,NA18157,NA18485,NA18487,NA18488,NA18506,NA18508,NA18534,NA18542,NA18544,NA18557,NA18582,NA18592,NA18593,NA18602,NA18611,NA18618,NA18619,NA18627,NA18631,NA18632,NA18634,NA18636,NA18637,NA18643,NA18647,NA18748,NA18873,NA18914,NA18916,NA18946,NA18994,NA18997,NA19001,NA19009,NA19031,NA19044,NA19046,NA19056,NA19065,NA19067,NA19072,NA19098,NA19101,NA19113,NA19117,NA19127,NA19129,NA19131,NA19140,NA19146,NA19179,NA19180,NA19182,NA19183,NA19206,NA19208,NA19213,NA19215,NA19236,NA19237,NA19257,NA19307,NA19318,NA19321,NA19328,NA19332,NA19360,NA19373,NA19374,NA19379,NA19381,NA19382,NA19383,NA19385,NA19393,NA19396,NA19397,NA19434,NA19443,NA19444,NA19446,NA19455,NA19466,NA19467,NA19469,NA19470,NA19473,NA19474,NA19703,NA19705,NA19712,NA19779,NA20300,NA20344,NA20347,NA20348,NA20349,NA20350,NA20506,NA20520,NA20527,NA20539,NA20540,NA20752,NA20755,NA20756,NA20802,NA20805,NA20809,NA20811,NA20846,NA20851,NA20854,NA20859,NA20861,NA20866,NA20874,NA20883,NA20884,NA20885,NA20888,NA20889,NA20892,NA21090,NA21106,NA21111,NA21112,NA21119,NA21297,NA21307,NA21309,NA21312,NA21313,NA21314,NA21320,NA21336,NA21339,NA21360,NA21361,NA21370,NA21379,NA21391,NA21405,NA21408,NA21417,NA21421,NA21423,NA21436,NA21451,NA21473,NA21479,NA21491,NA21529,NA21576,NA21582,NA21587,NA21608,NA21614,NA21616,NA21617,NA21619,NA21620,NA21631,NA21635,NA21636,NA21683,NA21685,NA21693,NA21716,NA21718,NA21739 dgv1039n71 11 21817754 21980760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897047,nsv897046,nsv897045 M 6533 0 15 "" MS10204,MS10674,MS10709,MS12234,MS12986,MS15188,MS16934,MS17665,MS19358,MS20718,MS20725,MS21420,MS22619,MS23758,MS25112 nsv469941 11 21821172 21969179 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546084,nssv546085 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00716,HGDP01381 nsv897048 11 21840039 21940023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506515 S 6533 0 1 "" SP54367 nsv897049 11 21848419 22250522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524813,nssv1525691 M 6533 0 2 ANO5 SP55302,SP56773 nsv467729 11 21851390 21969179 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542933 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00716 nsv510245 11 21900186 21906186 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624270 S 4 0 1 "" NA18994 nsv517965 11 21904976 21908864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695377 S 2026 0 1 "" nsv528022 11 21947563 22049409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704551 S 2026 0 1 "" nsv897050 11 21949702 22055842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555883 S 6533 0 1 "" MS21700 nsv39275 11 21967098 21967166 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57853 M 24 "" nsv897051 11 21993147 22104660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584290 S 6533 0 1 "" IS36957 esv273351 11 22034963 22035303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580905 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv28938 11 22071796 22079505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17287 S 451 0 1 "" NA19257 nsv7706 11 22144983 22179538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv998 S 9 1 0 ANO5 NA19240 esv271342 11 22180252 22180593 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496737,essv2493150,essv2496493,essv2506067,essv2498475,essv2507047,essv2495617,essv2501446,essv2504602,essv2506557 M 157 10 0 Samples from several populations that are part of the HapMap project. ANO5 NA18498,NA18504,NA18510,NA18523,NA18858,NA18870,NA18916,NA19093,NA19099,NA19108 nsv897052 11 22216527 22333148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503060 S 6533 1 0 ANO5,SLC17A6 SP51481 esv1653914 11 22219379 22219379 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3868196 S 2 1 0 ANO5 HuRef esv1534919 11 22222026 22222026 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307574 S 2 1 0 ANO5 HuRef esv2214569 11 22247202 22247562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870537 S 1 0 1 ANO5 NA18507 esv1750598 11 22247412 22247490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854704 S 2 0 1 ANO5 HuRef esv2247932 11 22247477 22247835 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932052 S 1 0 1 ANO5 NA18507 esv1404647 11 22294402 22294803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646636 S 2 0 1 "" HuRef nsv38773 11 22317186 22317239 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57351 M 24 SLC17A6 esv269319 11 22369355 22369679 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519197,essv2518527,essv2517986,essv2514221,essv2515816,essv2513731 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA12287,NA12872,NA12874,NA18969 dgv32n17 11 22396289 22403439 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437706,nsv437705 M 60 0 2 "" NA19103,NA19194 nsv7707 11 22418034 22461828 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3935 S 9 0 1 "" NA12878 esv990585 11 22421656 22429722 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564995 S 3 0 1 "" HuRef esv1001971 11 22427462 22429348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581484 S 3 0 1 "" HuRef esv27519 11 22427471 22429361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10963 S 451 0 1 "" NA12878 esv1007443 11 22427547 22429361 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586555 S 3 0 1 "" HuRef esv1005473 11 22428155 22429333 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586782 S 3 0 1 "" HuRef esv2500914 11 22614664 22616189 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192613 S 1 0 1 "" NA18507 esv1643479 11 22615365 22615424 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203241 S 2 0 1 "" HuRef esv1531224 11 22615499 22615723 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291448 S 2 0 1 "" HuRef nsv510246 11 22736245 22742245 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621523,nssv624274,nssv618339,nssv622336 M 4 0 4 GAS2 CHM,NA10860,NA15510,NA18994 nsv523451 11 22785182 22825513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699208 S 2026 0 1 GAS2,LOC100500938,SVIP nsv524283 11 22799796 22837578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700182 S 2026 0 1 LOC100500938,SVIP nsv522782 11 22825513 22847679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698425 S 2026 0 1 LOC100500938 nsv897053 11 22931164 23149253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532111 S 6533 1 0 "" MS10720 nsv514602 11 22957996 22984060 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627106 S 1414 0 0 "" nsv39771 11 22964504 22964615 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58349 M 24 "" nsv467732 11 22970007 23000729 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542934 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00723 nsv897055 11 22977421 23039983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593596 S 6533 0 1 "" IS39457 nsv7708 11 22990008 23003545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9817 S 9 1 0 "" NA18507 esv2426663 11 22994254 22995230 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238778 S 1 1 0 "" NA18507 nsv825787 11 23037319 23038207 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428828 S 31 1 0 "" NA18947 nsv510247 11 23043203 23049203 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624276 S 4 0 1 "" NA18994 esv33236 11 23051127 23051442 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98887 S 51 1 0 "" 21606 esv2385333 11 23054956 23055397 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610257 S 1 0 1 "" NA18507 nsv7709 11 23135989 23178287 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6450 S 9 0 1 "" NA12156 nsv467733 11 23156896 23171456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542935 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00454 esv1068433 11 23166729 23166792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736284 S 2 0 1 "" HuRef nsv897056 11 23171456 23342758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581171 S 6533 0 1 "" IS35519 nsv897057 11 23212098 23251217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557433 S 6533 0 1 "" MS22677 esv2619275 11 23226946 23228319 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257747 S 1 0 1 "" NA18507 esv273738 11 23227251 23227423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580834,essv2579310,essv2579558 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270077 11 23227263 23227450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495474,essv2495280,essv2500200,essv2501715,essv2502887,essv2495382,essv2510337,essv2508543,essv2502599,essv2503772,essv2500242,essv2496532,essv2496285,essv2493818,essv2503275,essv2497231,essv2499954,essv2506394,essv2512704,essv2510027,essv2496102,essv2507560,essv2498589,essv2511711,essv2505450,essv2496011,essv2501532,essv2504880,essv2498972,essv2509644,essv2497508,essv2501836,essv2499532,essv2513075 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11919,NA11992,NA12006,NA12144,NA12156,NA12287,NA12414,NA12717,NA12750,NA12761,NA12891,NA18510,NA18511,NA18517,NA18542,NA18552,NA18558,NA18566,NA18577,NA18593,NA18603,NA18638,NA18858,NA18940,NA18952,NA18961,NA19093,NA19099,NA19114,NA19129,NA19147,NA19239 nsv523541 11 23235428 23240603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699318 S 2026 0 1 "" nsv897058 11 23244900 23329711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536207 S 6533 1 0 "" MS12648 nsv467735 11 23260209 23363081 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542936 S 1557 0 1 "" NINDS_103 nsv897059 11 23261465 23363081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585470 S 6533 0 1 "" IS37467 esv2595843 11 23314811 23315690 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291999 S 1 1 0 "" NA18507 esv267463 11 23315040 23315393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514537,essv2516785,essv2519294,essv2518661,essv2515507,essv2518519,essv2516442,essv2515588,essv2518136,essv2514494,essv2517575,essv2516243,essv2516895,essv2518987,essv2515197,essv2518936,essv2518234 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA12045,NA12249,NA12287,NA12814,NA12815,NA12872,NA12874,NA12878,NA12891,NA12892,NA19141,NA19238,NA19239,NA19240 esv273766 11 23315048 23315313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580681,essv2579819 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv7710 11 23316646 23342040 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3936 S 9 1 0 "" NA12878 esv1007755 11 23325531 23325850 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564461 S 3 1 0 "" HuRef esv1474823 11 23325788 23325788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965355 S 2 1 0 "" HuRef nsv436136 11 23328400 23335300 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466644 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv27017 11 23331241 23335131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10472 S 451 0 1 "" NA18505 nsv832087 11 23361050 23525759 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449057 S 95 1 0 "" esv1705973 11 23366303 23366358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242827 S 2 0 1 "" HuRef nsv897060 11 23385015 23446545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561835 S 6533 0 1 "" MS25250 nsv525662 11 23390247 23405110 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701818 S 2026 1 0 "" nsv825788 11 23461406 23468470 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434930 S 31 1 0 "" NA18592 esv2544392 11 23479089 23480066 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199324 S 1 1 0 "" NA18507 esv273561 11 23479350 23479688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581750,essv2582402,essv2582973,essv2584327,essv2584693,essv2583569 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268155 11 23479351 23479692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540849,essv2546581,essv2521398,essv2525875,essv2542297,essv2522941,essv2544100,essv2570931,essv2545634,essv2523300,essv2570498,essv2548329,essv2521492,essv2576623,essv2550748,essv2525498,essv2535175,essv2544471,essv2552312,essv2520505,essv2547149,essv2558500,essv2577755,essv2553568,essv2564137,essv2537560,essv2528433,essv2546802,essv2540123,essv2520842,essv2557488,essv2556974,essv2552476,essv2551762,essv2532401,essv2569251,essv2578554,essv2550223,essv2558818,essv2537139,essv2539043,essv2569834,essv2527400,essv2561371,essv2523500,essv2552980,essv2538387,essv2542728,essv2540628,essv2539602,essv2549388,essv2565979,essv2532461,essv2567881,essv2541823,essv2569871,essv2553276,essv2535557,essv2542066,essv2551145,essv2569135,essv2543436,essv2556390,essv2528176,essv2562493,essv2567119,essv2529911,essv2557622,essv2522602,essv2526855,essv2529790,essv2575666,essv2575228,essv2538768,essv2526630,essv2524044,essv2560817,essv2574749,essv2568502,essv2545077,essv2560192,essv2549958,essv2571192,essv2545809,essv2574481,essv2551389,essv2536091,essv2538048,essv2549031,essv2533238,essv2554482,essv2547959,essv2524794,essv2563219,essv2557997 M 157 95 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA12003,NA12004,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18537,NA18542,NA18547,NA18550,NA18552,NA18563,NA18564,NA18572,NA18576,NA18577,NA18592,NA18593,NA18605,NA18608,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18947,NA18949,NA18953,NA18960,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 dgv134n27 11 23521419 23542452 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467737,nsv467738 M 1557 2 0 "" HGDP00904,HGDP00910 esv270589 11 23528608 23528693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514052,essv2515377,essv2515551,essv2519112 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12249,NA12815,NA19141 nsv818803 11 23534018 23538973 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417151 S 112 0 1 "" NA18542 nsv825789 11 23534884 23540088 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436894 S 31 0 1 "" NA18542 nsv825790 11 23538364 23538862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439870 S 31 0 1 "" NA18537 esv28100 11 23538530 23539037 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14447 S 451 0 2 "" NA11993,NA18511 nsv897061 11 23544450 23630330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568294 S 6533 0 1 "" IS31228 esv23798 11 23547771 23548723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10635 S 451 0 3 "" NA12004,NA12287,NA12414 nsv469942 11 23633822 23680342 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546086 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00907 nsv897062 11 23644504 23988203 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585330 S 6533 1 0 "" IS37422 nsv897063 11 23680342 23896983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546188 S 6533 0 1 "" MS17114 esv24494 11 23706118 23710042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18778 S 451 0 5 "" NA18502,NA18858,NA18909,NA19190,NA19240 dgv1040n71 11 23723868 23839507 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897066,nsv897065,nsv897064,nsv897068,nsv897067 M 6533 0 8 "" IS31359,IS31904,IS36656,IS37103,IS38065,MS12266,MS18978,MS25751 dgv135n27 11 23739914 23797751 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467742,nsv467743 M 1557 0 2 "" 1780854341_A,1780862310_A nsv469943 11 23753286 23816567 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546088 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 nsv527858 11 23753287 23816567 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704356 S 2026 1 0 "" nsv897069 11 23757988 23820866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596857 S 6533 0 1 "" IS40657 nsv832088 11 23768167 23902325 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449058 S 95 0 1 "" nsv819077 11 23799067 23799969 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419114 S 2 0 1 "" AK1 esv2566772 11 23816274 23817868 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320806 S 1 0 1 "" NA18507 esv1923824 11 23817130 23817634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588305 S 1 0 1 "" NA18507 esv4776 11 23817270 23817524 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27217 S 1 0 1 Single Asian sample YH "" YH esv2080046 11 23839462 23839816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907675 S 1 0 1 "" NA18507 esv2507821 11 23888539 23889515 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321399 S 1 1 0 "" NA18507 esv268401 11 23888907 23889282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511721,essv2504312,essv2496551,essv2496184,essv2501152,essv2494856,essv2494896,essv2509068,essv2506187,essv2505801,essv2507146,essv2494101,essv2513244,essv2495532,essv2501372,essv2506489,essv2499107,essv2498812,essv2493905,essv2499663,essv2502111 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18505,NA18510,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18861,NA18870,NA18871,NA18907,NA18916,NA19093,NA19108,NA19114,NA19138,NA19210,NA19225,NA19257 nsv897070 11 23939149 24030783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570440 S 6533 0 1 "" IS32006 nsv897071 11 23939149 24114341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568758 S 6533 0 1 "" IS31335 nsv897072 11 23952152 24042316 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536208 S 6533 1 0 "" MS12648 nsv467744 11 23958551 24017661 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542942 S 1557 0 1 "" 1780854481_A esv993270 11 23965775 23965775 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582562 S 3 1 0 "" HuRef esv1059292 11 23965783 23965783 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803949 S 2 1 0 "" HuRef nsv467747 11 23967106 24042316 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542943 S 1557 0 1 "" 1780862432_A esv271679 11 23971772 23972125 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512619,essv2496819,essv2494374,essv2496383,essv2496253,essv2494912,essv2509070,essv2498560,essv2507126,essv2494087,essv2513332,essv2509297,essv2507291,essv2501251,essv2502102 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18502,NA18510,NA18511,NA18520,NA18522,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA19093,NA19257 nsv897073 11 24004782 24065510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577258 S 6533 0 1 "" IS34400 dgv1041n71 11 24004782 24114341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897075,nsv897074 M 6533 0 2 "" IS34896,SP57367 nsv825791 11 24016976 24077968 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439119 S 31 0 1 "" NA18973 nsv526281 11 24017661 24048258 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702560 S 2026 0 1 "" esv2524161 11 24035151 24036684 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227563 S 1 0 1 "" NA18507 esv7922 11 24038800 24039365 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30363 S 1 0 0 "" SJK nsv517506 11 24044290 24044377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652213,nssv672788 M 2026 0 2 "" dgv1042n71 11 24048258 24203480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897080,nsv897079,nsv897076,nsv897078 M 6533 0 4 "" IS38292,MS17408,MS18620,MS25529 nsv897077 11 24048258 24265500 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585331 S 6533 1 0 "" IS37422 nsv467748 11 24066492 24122808 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542944 S 1557 0 1 "" 1780862176_A nsv897081 11 24087063 24187833 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536209 S 6533 1 0 "" MS12648 nsv897082 11 24152695 24203480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499739 S 6533 0 1 "" SP50532 nsv897083 11 24167211 24302669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567684,nssv1541183 M 6533 0 2 "" IS31137,MS15199 dgv1043n71 11 24189180 24265500 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897085,nsv897084 M 6533 4 0 "" MS11554,MS22382,SP50775,SP56013 nsv467754 11 24203480 24247394 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542946 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00781 nsv897086 11 24218083 24313040 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545949 S 6533 1 0 "" MS17056 esv22893 11 24241229 24244783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13695,esv20087,esv20652 M 451 0 6 "" NA18511,NA18517,NA18523,NA18907,NA18909,NA19129 nsv820879 11 24241229 24244783 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420931 S 1 0 1 "" NA10851 nsv825792 11 24241232 24244061 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441337 S 31 0 1 "" NA18969 esv5399 11 24241275 24244671 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27840 S 1 0 0 Single Asian sample YH "" YH nsv7711 11 24289025 24315509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1929 S 9 0 1 "" NA18555 nsv511000 11 24300719 24369737 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621662 S 4 0 0 "" NA15510 nsv897087 11 24303132 24330984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517415 S 6533 0 1 "" SP57270 esv2654065 11 24303990 24312260 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290829 S 1 0 1 "" NA18507 nsv39424 11 24304385 24304476 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58002 M 24 "" nsv512213 11 24305213 24312679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624782 S 1 0 1 "" 1 esv2554622 11 24305433 24312802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377732 S 1 0 1 "" NA18507 nsv435926 11 24305608 24312409 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466645 S 2 0 1 "" NA15510 esv1000591 11 24305781 24312723 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564818 S 3 0 1 "" HuRef esv1935723 11 24305919 24312321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887315 S 1 0 1 "" NA18507 esv5168 11 24306019 24312201 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27609 S 1 0 1 Single Asian sample YH "" YH nsv509396 11 24325849 24369737 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618086 S 4 1 0 "" CHM nsv7713 11 24332671 24358571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv999,nssv3937 M 9 2 0 "" NA12878,NA19240 esv997344 11 24347511 24349652 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563942 S 3 1 0 "" HuRef nsv467755 11 24363957 24484534 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542947 S 1557 0 1 LUZP2 NINDS_94 nsv897088 11 24376057 24500051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536210 S 6533 1 0 LUZP2 MS12648 esv270187 11 24386310 24386629 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494877,essv2505916,essv2502174 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18520,NA18861,NA19257 nsv820228 11 24399536 24408855 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418572 S 2 1 0 "" AK1 esv27819 11 24399596 24408892 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13551 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv820748 11 24399596 24408892 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420932 S 1 0 1 "" NA10851 dgv201n67 11 24399704 24408825 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825795,nsv825796,nsv825794,nsv825793 M 31 0 11 "" AK12,AK20,NA18542,NA18564,NA18949,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv2422125 11 24400825 24406833 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131974,essv5064874,essv5139156,essv5050482,essv5061921,essv5154380,essv5063858,essv5102884,essv5124297,essv5014041,essv5023981,essv5058575,essv5023505,essv5062266,essv5150041,essv5068727,essv5138655,essv5038549,essv5006078,essv5128538,essv5143691,essv5088682,essv5144861,essv5107023,essv5056331,essv5135707,essv5137717,essv5107657,essv5052488,essv5068299,essv5074750,essv5097073,essv5003594,essv5023023,essv5038398,essv5096873,essv5037880,essv5056533,essv5156751,essv5094891,essv5109669,essv5066524,essv5055354,essv5159250,essv5156522,essv5017047,essv5061952,essv5045165,essv5139619,essv5029010,essv5046016,essv5136033,essv5144279,essv5140517,essv5151758,essv5106991,essv5008920,essv5118503,essv5119040 M 1184 0 59 "" NA06989,NA12056,NA12144,NA12234,NA12275,NA12282,NA12340,NA12707,NA12716,NA12749,NA12864,NA12872,NA12889,NA19403,NA19675,NA19677,NA19679,NA19680,NA19681,NA19683,NA19746,NA19748,NA19795,NA19796,NA20349,NA20502,NA20534,NA20544,NA20761,NA20765,NA20771,NA20773,NA20775,NA20785,NA20786,NA20795,NA20806,NA20808,NA20812,NA20846,NA20887,NA20891,NA20897,NA20904,NA20907,NA20910,NA21105,NA21363,NA21367,NA21378,NA21385,NA21408,NA21415,NA21434,NA21447,NA21486,NA21487,NA21493,NA21510 nsv442605 11 24400825 24406833 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514603 11 24403264 24406812 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628089 S 1414 0 1 "" nsv897089 11 24434282 24501929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601223 S 6533 0 1 LUZP2 IS41984 esv274975 11 24450110 24451983 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586092,essv2585947 M 1250 1 1 "" esv26875 11 24459436 24461505 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12745 S 451 2 0 "" NA19190,NA19257 nsv469945 11 24472099 24501929 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546089 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LUZP2 HGDP00544 dgv1044n71 11 24496556 24533321 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897091,nsv897090 M 6533 2 0 LUZP2 IS32322,IS34005 esv270297 11 24521289 24521485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496601,essv2509067,essv2504823 M 157 3 0 Samples from several populations that are part of the HapMap project. LUZP2 NA18486,NA18522,NA19099 esv274904 11 24542192 24545815 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586170 S 1250 0 1 LUZP2 nsv897092 11 24565602 24604901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516568 S 6533 1 0 LUZP2 SP56861 dgv60n21 11 24574871 24578725 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520119,nsv527950 M 2026 0 2 LUZP2 nsv522581 11 24594446 24613914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705968 S 2026 0 1 LUZP2 nsv436133 11 24614861 24620959 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466646 S 2 0 1 Samples from several populations that are part of the HapMap project. LUZP2 NA18505 esv24619 11 24614986 24620894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16094 S 451 0 3 LUZP2 NA18505,NA18517,NA19114 nsv897093 11 24631783 24693069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536211 S 6533 1 0 LUZP2 MS12648 nsv7714 11 24672045 24701679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6451 S 9 1 0 LUZP2 NA12156 esv990306 11 24693207 24695813 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564760 S 3 0 1 LUZP2 HuRef nsv897094 11 24718407 24749736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574442 S 6533 0 1 LUZP2 IS33566 dgv1045n71 11 24731440 24750291 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897095,nsv897097 M 6533 0 4 LUZP2 IS31330,IS31335,IS37194,IS41045 nsv897096 11 24734687 24749736 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597485,nssv1569788,nssv1566909 M 6533 1 2 LUZP2 IS30976,IS31706,IS41189 nsv523280 11 24735035 24743229 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699015 S 2026 1 0 LUZP2 dgv1046n71 11 24735035 24770652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897099,nsv897098 M 6533 0 2 LUZP2 MS23531,MS25617 nsv467756 11 24735537 24749736 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542948 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LUZP2 HGDP00946 nsv469946 11 24735537 24751851 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546090 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LUZP2 HGDP01182 nsv467757 11 24735537 24759637 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542949 S 1557 0 1 LUZP2 1780862459_A nsv515848 11 24739759 24750291 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672585,nssv669547,nssv665006,nssv693825,nssv667374,nssv683724,nssv705342 M 2026 7 0 LUZP2 nsv818804 11 24741498 24743229 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418490 S 112 0 1 LUZP2 NA19193 nsv818805 11 24741498 24749736 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417911 S 112 1 0 LUZP2 NA18852 esv274032 11 24749499 24749692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582148,essv2582456,essv2583021,essv2584128,essv2583624 M 7 5 0 Samples from several populations that are part of the HapMap project. LUZP2 NA12878,NA12891,NA12892,NA19238,NA19240 esv269929 11 24749502 24749843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526019,essv2542502,essv2536528,essv2523053,essv2543815,essv2570892,essv2568325,essv2545663,essv2577380,essv2570655,essv2548267,essv2521705,essv2576643,essv2550697,essv2525448,essv2550372,essv2535391,essv2554056,essv2552259,essv2520687,essv2547154,essv2558551,essv2564430,essv2577920,essv2553672,essv2559543,essv2520254,essv2563977,essv2555179,essv2562136,essv2537491,essv2528620,essv2546723,essv2530500,essv2552712,essv2551799,essv2532036,essv2562661,essv2569451,essv2578787,essv2569846,essv2527342,essv2561555,essv2562892,essv2552813,essv2541335,essv2524592,essv2564974,essv2534831,essv2560961,essv2539660,essv2549567,essv2519666,essv2566032,essv2531063,essv2532903,essv2528916,essv2567296,essv2570030,essv2563718,essv2569112,essv2543665,essv2527805,essv2562233,essv2539408,essv2533841,essv2573096,essv2533472,essv2567115,essv2573980,essv2555885,essv2534382,essv2531322,essv2573337,essv2543281,essv2525720,essv2529545,essv2575780,essv2575303,essv2526543,essv2524297,essv2574868,essv2530202,essv2568489,essv2560390,essv2571200,essv2574408,essv2551589,essv2536070,essv2537934,essv2548723,essv2533032,essv2554729,essv2547829,essv2563430 M 157 95 0 Samples from several populations that are part of the HapMap project. LUZP2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18486,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18520,NA18522,NA18523,NA18532,NA18542,NA18545,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18579,NA18582,NA18593,NA18603,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18942,NA18944,NA18947,NA18951,NA18956,NA18959,NA18961,NA18964,NA18965,NA18980,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19141,NA19147,NA19190,NA19238,NA19240,NA19257 dgv2e49 11 24759245 25047350 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis esv34111,esv34012 M 270 LUZP2 esv22649 11 24759552 24760592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14676 S 451 0 1 LUZP2 NA12006 nsv507585 11 24821567 24827567 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619284 S 4 1 0 LUZP2 NA10860 esv2640552 11 24860454 24861644 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335520 S 1 0 0 LUZP2 NA18507 dgv1047n71 11 24870065 25052885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897106,nsv897107,nsv897108,nsv897101,nsv897100 M 6533 0 16 LUZP2 IS30292,IS30409,IS31228,IS33616,IS34737,IS34762,IS35605,IS35993,IS36882,IS39512,IS41043,IS41774,IS41862,IS41940,MS20813,MS25617 nsv897104 11 24870065 25116612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536212 S 6533 1 0 LUZP2 MS12648 dgv1048n71 11 24870065 25126217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897105,nsv897110,nsv897102,nsv897103,nsv897111,nsv897109 M 6533 0 8 LUZP2 IS31373,IS36131,IS38207,IS41113,MS10737,MS12266,MS22146,MS25373 esv1095740 11 24897345 24897345 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805502 S 2 1 0 LUZP2 HuRef nsv467758 11 24925804 25017923 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542950 S 1557 0 1 LUZP2 1780854464_A dgv1049n71 11 24954236 25126217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897113,nsv897112 M 6533 0 2 LUZP2 IS36219,MS17114 esv2422339 11 24961193 25503241 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161327 S 181 0 1 LUZP2 ND05155 dgv1050n71 11 24971558 25041872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897115,nsv897114 M 6533 0 12 LUZP2 IS30141,IS30147,IS30238,IS35701,IS35911,IS37428,IS40657,IS41788,IS41832,IS41926,IS41933,MS22993 nsv832089 11 24974647 25157208 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449059 S 95 1 0 LUZP2 nsv897116 11 24986217 25128661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575834 S 6533 1 0 LUZP2 IS33829 nsv897117 11 24994524 25052885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552532 S 6533 0 1 LUZP2 MS19487 esv2157154 11 24997797 24998256 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621456 S 1 0 1 LUZP2 NA18507 nsv897118 11 25019292 25071881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578680 S 6533 0 1 LUZP2 IS34856 dgv1051n71 11 25019292 25102478 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897119,nsv897120 M 6533 0 2 LUZP2 IS35771,IS39784 nsv897121 11 25019292 25134880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567029 S 6533 0 1 LUZP2 IS31041 esv1927907 11 25025233 25025728 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846985 S 1 0 1 LUZP2 NA18507 esv270545 11 25027986 25028071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513764 S 157 1 0 Samples from several populations that are part of the HapMap project. LUZP2 NA19143 nsv513690 11 25032202 25039314 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626942 S 1 0 0 LUZP2 1 nsv520070 11 25033840 25035470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680185,nssv662708,nssv660484 M 2026 0 3 LUZP2 nsv518374 11 25033840 25041872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695802 S 2026 0 1 LUZP2 nsv513691 11 25033896 25035844 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626943 S 1 0 0 LUZP2 1 nsv511487 11 25034527 25039223 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626104 S 1 1 0 LUZP2 1 esv27550 11 25035290 25040104 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11157 S 451 1 0 LUZP2 NA11931 nsv512214 11 25038639 25042426 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624783 S 1 0 1 LUZP2 1 nsv511472 11 25039614 25045160 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626087 S 1 0 1 LUZP2 1 esv28433 11 25040160 25042309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16277 S 451 0 2 LUZP2 NA06985,NA11931 nsv442222 11 25040789 25042313 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LUZP2 dgv354e1 11 25045288 25279174 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12085,essv14238,essv13974 M 271 0 0 LUZP2 NA19098,NA19099,NA19100 esv269817 11 25065113 25065358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2531977,essv2540053,essv2556926,essv2552356,essv2550210,essv2561539,essv2527843,essv2539456,essv2529823,essv2538727,essv2560698,essv2572792,essv2549887,essv2533196 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12006,NA18489,NA18501,NA18502,NA18511,NA18523,NA18907,NA18912,NA19093,NA19108,NA19116,NA19143,NA19225 nsv467760 11 25071881 25097358 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542951 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 dgv1052n71 11 25071881 25126217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897123,nsv897122 M 6533 0 2 "" IS31074,IS36722 nsv467762 11 25074327 25131774 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542953 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00941 nsv516879 11 25078934 25249759 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661939,nssv660706,nssv662809,nssv658870,nssv654638,nssv675720,nssv675330,nssv656563 M 2026 2 6 "" nsv437707 11 25078934 25265915 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467588 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 esv268550 11 25079896 25085154 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516296,essv2514329 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12874 esv26800 11 25080515 25252411 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20837 S 451 0 1 "" NA19099 nsv442223 11 25090419 25250126 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv47e55 11 25093100 25250127 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34421,esv34724 M 771 0 2 "" NA19098,NA19099 esv272952 11 25097360 25097656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580386,essv2578931 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239 esv268828 11 25097360 25097689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541060,essv2546476,essv2521423,essv2526034,essv2523045,essv2568076,essv2545705,essv2570367,essv2548432,essv2521825,essv2576767,essv2535307,essv2553985,essv2544491,essv2547224,essv2529329,essv2564414,essv2577660,essv2559633,essv2564264,essv2554876,essv2530838,essv2546639,essv2556941,essv2552465,essv2519520,essv2567443,essv2572609,essv2542166,essv2536247,essv2547798,essv2563476,essv2558169 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11931,NA11995,NA12003,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12717,NA12749,NA12751,NA12761,NA12776,NA12828,NA12872,NA12873,NA12892,NA18501,NA18502,NA18566,NA18582,NA18609,NA18856 esv1201912 11 25097393 25097393 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095894 S 2 1 0 "" HuRef nsv467763 11 25128661 25557318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542954 S 1557 0 1 "" NINDS_214 dgv355e1 11 25148529 25322096 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10007,essv16165,essv12606 M 271 0 0 "" NA19098,NA19099,NA19100 nsv7715 11 25184498 25221798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10809,nssv1000,nssv6453,nssv3938,nssv5352,nssv1930 M 9 6 0 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv897124 11 25187356 25320808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568153 S 6533 0 1 "" IS31205 nsv897125 11 25193526 25250694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593267 S 6533 0 1 "" IS39391 esv993661 11 25200357 25203007 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564907 S 3 1 0 "" HuRef nsv509397 11 25201043 25201043 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619904 S 4 1 0 "" NA10860 esv1183723 11 25201104 25201104 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3868111 S 2 1 0 "" HuRef essv12946 11 25204553 25229775 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19102 dgv1053n71 11 25234025 25343385 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897127,nsv897126 M 6533 0 2 "" IS31233,IS35742 nsv438183 11 25248415 25250805 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470326,nssv470327 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19099,NA19100 nsv897128 11 25250805 25613028 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593299 S 6533 1 0 "" IS39394 nsv38875 11 25333781 25334449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57453 M 24 "" nsv832090 11 25339414 25497574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449060 S 95 0 1 "" dgv1054n71 11 25361368 25522095 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897129,nsv897130 M 6533 0 3 "" IS35028,MS19161,MS21189 nsv521288 11 25367792 25372432 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697892 S 2026 0 1 "" nsv523452 11 25367792 25387893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699209 S 2026 0 1 "" nsv442224 11 25384338 25390482 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv521676 11 25387893 25390042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698295 S 2026 0 1 "" esv2321478 11 25388893 25389482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921398 S 1 0 1 "" NA18507 nsv38658 11 25389080 25389300 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57236 M 24 "" esv988937 11 25389081 25389301 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570799 S 3 0 1 "" HuRef esv1982398 11 25391618 25392075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989191 S 1 0 1 "" NA18507 esv3370 11 25391692 25391972 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25811 S 1 0 1 Single Asian sample YH "" YH esv2751021 11 25418387 25543232 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983231,essv6983232,essv6989760 M 771 0 1 "" BEC_558 esv2644038 11 25457319 25458950 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340538 S 1 0 1 "" NA18507 nsv467764 11 25506906 25540348 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542955 S 1557 0 1 "" NINDS_125 dgv356e1 11 25520766 25595288 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9285,essv8963,essv13282,essv13343,essv9570,essv12882 M 271 0 0 "" NA18500,NA18501,NA18502,NA19137,NA19139,NA19201 esv4856 11 25520993 25521508 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27297 S 1 0 1 Single Asian sample YH "" YH nsv437708 11 25526424 25587434 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467589 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19139 nsv897131 11 25526424 25676867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575835 S 6533 1 0 "" IS33829 nsv467765 11 25537913 25549511 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542956 S 1557 0 1 "" 1798860114_A nsv897132 11 25538907 25709768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541299,nssv1535059,nssv1545004,nssv1532884 M 6533 0 4 "" MS10922,MS11993,MS15232,MS16632 nsv897133 11 25549511 25602443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522623 S 6533 0 1 "" SP53289 nsv897134 11 25549511 25630609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568828 S 6533 0 1 "" IS31359 esv270393 11 25561671 25562017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514640,essv2516777,essv2518672,essv2515434,essv2518552,essv2514956,essv2516441,essv2515669,essv2515970,essv2514294,essv2517758,essv2516229,essv2516869,essv2517320,essv2518980,essv2519470,essv2513586 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA12045,NA12249,NA12287,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141 esv273767 11 25561676 25562012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581661,essv2582292,essv2583233 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1061768 11 25561714 25561714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688900 S 2 1 0 "" HuRef nsv437709 11 25562420 25587434 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467590 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv8799 11 25562874 25582642 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22392 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv26376 11 25563211 25584913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15700 S 451 0 1 "" NA18502 esv2421640 11 25565122 25582465 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5071937,essv5050324,essv5056305,essv5159955,essv5079041,essv5008024,essv5020382,essv5135406,essv5009755,essv5021365,essv5048591,essv5017859,essv5122840,essv5073832,essv5118423,essv5124697,essv5016885,essv5015689,essv5025952,essv5062043,essv5074302,essv5012740,essv5084851,essv5025708,essv5138928,essv5150805,essv5118469,essv5019734,essv5051174,essv5037057,essv5126130,essv5066798,essv5151636,essv5139707,essv5154911,essv5103928,essv5140962,essv5021258,essv5088264,essv5097555,essv5054949,essv5027441,essv5053385,essv5005417,essv5058201,essv5024395 M 1184 0 46 "" NA18488,NA18500,NA18501,NA18520,NA18852,NA18854,NA19137,NA19139,NA19179,NA19180,NA19201,NA19310,NA19393,NA19396,NA19397,NA19431,NA19436,NA19439,NA19456,NA19466,NA19472,NA19473,NA20277,NA20335,NA20363,NA20364,NA20756,NA21297,NA21303,NA21312,NA21313,NA21339,NA21353,NA21370,NA21400,NA21408,NA21451,NA21529,NA21573,NA21577,NA21617,NA21619,NA21635,NA21636,NA21685,NA21719 nsv442606 11 25565122 25584722 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514604 11 25565912 25582828 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628090 S 1414 0 0 "" nsv517418 11 25573116 25582465 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689912,nssv671115,nssv689016,nssv681419,nssv660581,nssv669186,nssv680420,nssv675252,nssv679578,nssv664060,nssv666026,nssv671696,nssv654605,nssv681115,nssv669654,nssv671220,nssv692078,nssv690031,nssv678043,nssv654280,nssv653768,nssv660618,nssv687255,nssv685086,nssv684637,nssv671960,nssv653930,nssv677569,nssv653326,nssv686999,nssv688064,nssv668004,nssv689500,nssv681733,nssv676729,nssv679071,nssv669296,nssv702322,nssv678234,nssv689232,nssv678314,nssv652573,nssv677937,nssv674895,nssv685195,nssv684205,nssv688137,nssv680032,nssv686758,nssv682341 M 2026 0 50 "" nsv818806 11 25573116 25582465 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416958,nssv1416959,nssv1417912,nssv1417913 M 112 0 4 "" NA18852,NA18854,NA19137,NA19139 nsv897135 11 25574818 25630609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535207 S 6533 0 1 "" MS12071 nsv897136 11 25574818 25657046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577903 S 6533 0 1 "" IS34599 esv1136147 11 25581891 25581891 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311722 S 2 1 0 "" HuRef esv1261238 11 25581971 25581971 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778828 S 2 1 0 "" HuRef dgv357e1 11 25590379 25799242 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12487,essv14719,essv11214,essv16207,essv13864 M 271 0 0 "" NA18854,NA19159,NA19161,NA19204,NA19207 nsv428252 11 25590379 25799242 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452061,nssv452062 M 62 0 2 "" HGDP00474,NA19225 nsv520281 11 25602443 25607802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662353,nssv674553 M 2026 0 2 "" nsv526726 11 25602443 25630609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703066 S 2026 0 1 "" nsv8800 11 25612852 25628066 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18131 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 esv2520553 11 25621485 25629672 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289558 S 1 0 1 "" NA18507 nsv526614 11 25630609 25686584 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702934 S 2026 1 0 "" esv2164088 11 25636449 25636862 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875505 S 1 0 1 "" NA18507 esv1005260 11 25636602 25636655 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568791 S 3 0 1 "" HuRef nsv38780 11 25636603 25636656 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57358 M 24 "" esv1278199 11 25636658 25636712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282635 S 2 0 1 "" HuRef nsv38539 11 25636659 25636712 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57117 M 24 "" dgv358e1 11 25651185 25673125 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9955,essv16619,essv8066 M 271 0 0 "" NA19161,NA19204,NA19208 nsv7716 11 25651712 25682778 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9818 S 9 0 1 "" NA18507 dgv359e1 11 25657046 25684737 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7949,essv11071,essv13104,essv13361 M 271 0 0 "" NA18859,NA19138,NA19159,NA19203 dgv136n27 11 25657565 25677282 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467770,nsv467769,nsv467767,nsv467768,nsv467766,nsv467771,nsv467773 M 1557 0 7 "" HGDP00458,HGDP00460,HGDP00474,HGDP00910,HGDP00929,HGDP00984,HGDP01286 dgv33n17 11 25657565 25686846 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437711,nsv437710 M 60 0 2 "" NA19132,NA19208 esv2647190 11 25657938 25678007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304059 S 1 0 1 "" NA18507 nsv517141 11 25658239 25677282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680421,nssv657269,nssv671085,nssv681621,nssv662525,nssv683070,nssv664705,nssv655581,nssv663233,nssv670465,nssv687440,nssv693895,nssv681605,nssv674896,nssv665967,nssv662463,nssv664330,nssv684220,nssv693277,nssv661063,nssv666776,nssv670226,nssv684296,nssv652888,nssv664078,nssv691868,nssv685286,nssv659959,nssv667138,nssv652594,nssv653517,nssv686635,nssv680391,nssv684901,nssv672855,nssv680259,nssv656182,nssv656964,nssv658709,nssv685708,nssv665429,nssv665201,nssv674158,nssv678802,nssv669235,nssv666068,nssv657153,nssv667742,nssv667358,nssv665795,nssv667463,nssv673776,nssv678137,nssv689391,nssv665819,nssv693160,nssv681523,nssv667263,nssv689660,nssv663881,nssv658205,nssv667392,nssv679040,nssv666849,nssv678643,nssv653642,nssv652617,nssv683042,nssv679867,nssv657983,nssv659628,nssv653533,nssv676730,nssv658669,nssv680906,nssv677122,nssv664136,nssv678268,nssv688148,nssv683941,nssv680033,nssv682534,nssv668533,nssv659263,nssv653942,nssv678063,nssv671463,nssv660707,nssv661739,nssv654913,nssv662586,nssv676979,nssv693055,nssv660730,nssv684160,nssv655398,nssv678784,nssv668805,nssv681076,nssv679793,nssv691510,nssv666335,nssv670506 M 2026 0 103 "" nsv469947 11 25658239 25686584 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546091,nssv546093,nssv546092 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460,HGDP01085,HGDP01417 nsv8801 11 25658601 25673179 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23499,nssv22823 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19132 esv2301788 11 25658689 25677651 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969338 S 1 0 1 "" NA18507 esv26920 11 25658850 25677488 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16477 S 451 0 2 "" NA19108,NA19225 esv2421405 11 25658909 25677282 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038248,essv5119159,essv5134508,essv5121184,essv5068083,essv5042343,essv5104127,essv5095760,essv5020976,essv5129043,essv5033430,essv5004001,essv5018790,essv5009819,essv5082358,essv5063509,essv5035857,essv5052345,essv5005001,essv5084998,essv5134137,essv5107372,essv5120763,essv5064419,essv5077812,essv5053872,essv5086310,essv5067394,essv5142440,essv5051884,essv5096850,essv5071778,essv5087943,essv5037944,essv5130795,essv5024794,essv5032816,essv5125523,essv5131413,essv5056870,essv5112246,essv5024872,essv5064664,essv5040673,essv5110001,essv5096184,essv5075216,essv5063111,essv5002190,essv5149421,essv5072040,essv5145295,essv5153167,essv5043424,essv5131691,essv5065968,essv5117755,essv5133420,essv5057770,essv5096344,essv5046930,essv5105466,essv5134831,essv5063003,essv5126856,essv5045534,essv5033402,essv5033894,essv5044527,essv5026738,essv5147251,essv5138174,essv5149613,essv5096863 M 1184 0 74 "" NA18507,NA18518,NA18520,NA18852,NA18854,NA18859,NA18860,NA18867,NA18910,NA18911,NA18917,NA18930,NA19036,NA19093,NA19095,NA19108,NA19109,NA19113,NA19115,NA19131,NA19132,NA19138,NA19159,NA19161,NA19175,NA19197,NA19199,NA19203,NA19204,NA19207,NA19208,NA19224,NA19225,NA19226,NA19328,NA19347,NA19352,NA19360,NA19372,NA19376,NA19436,NA19451,NA19819,NA19915,NA20276,NA20277,NA20333,NA20344,NA20345,NA20347,NA20348,NA20350,NA20363,NA20364,NA21307,NA21309,NA21353,NA21371,NA21400,NA21401,NA21441,NA21442,NA21475,NA21477,NA21488,NA21491,NA21512,NA21514,NA21524,NA21525,NA21526,NA21574,NA21616,NA21738 esv2483171 11 25658941 25677850 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378082 S 1 0 1 "" NA18507 nsv514605 11 25659100 25673204 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628091 S 1414 0 1 "" nsv433263 11 25660411 25677282 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463144 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18507 nsv818807 11 25660411 25677282 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416960,nssv1417916,nssv1416778,nssv1417914,nssv1418307,nssv1416777 M 112 0 6 "" NA18852,NA18854,NA19093,NA19138,NA19159,NA19161 nsv442607 11 25663542 25675557 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv360e1 11 25663566 25673125 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14940,essv16601,essv13241 M 271 0 0 "" NA18860,NA19131,NA19132 nsv897137 11 25686584 25753318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567786 S 6533 0 1 "" IS31145 esv24889 11 25707106 25710166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19729 S 451 0 1 "" NA11995 esv33637 11 25719823 25720495 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98806 S 51 1 0 "" 21606 esv33072 11 25722561 25725149 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98882,essv100042 M 51 0 2 "" 21606,22086 nsv8803 11 25722991 25729549 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20219 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 esv2494261 11 25729122 25730528 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339515 S 1 0 1 "" NA18507 esv1954237 11 25729440 25729892 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907016 S 1 0 1 "" NA18507 esv3177 11 25729461 25729833 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25618 S 1 0 1 Single Asian sample YH "" YH esv1005147 11 25729556 25729691 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572361 S 3 0 1 "" HuRef esv27459 11 25729597 25730462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19199 S 451 0 1 "" NA07045 esv998924 11 25729612 25729747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583333 S 3 0 1 "" HuRef esv1470870 11 25729650 25729786 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147300 S 2 0 1 "" HuRef nsv467774 11 25729898 25881385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542965 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00869 dgv1055n71 11 25757624 25817689 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897138,nsv897139 M 6533 0 2 "" SP50059,SP52731 nsv7717 11 25780402 25820084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8890 S 9 0 1 "" NA12156 nsv832091 11 25780402 25966463 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449062 S 95 1 0 "" nsv469948 11 25816359 25982809 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546094 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01271 nsv897140 11 25862085 25947770 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536213 S 6533 1 0 "" MS12648 nsv467775 11 25872801 25914120 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542966 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01237 esv2300864 11 25879884 25880260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571017 S 1 0 1 "" NA18507 esv1657819 11 25880031 25880135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885980 S 2 0 1 "" HuRef dgv137n27 11 25907895 25942083 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467776,nsv467777 M 1557 0 2 "" HGDP00099,HGDP01271 nsv825798 11 25937940 25938742 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439121 S 31 1 0 "" NA18973 esv271609 11 25974948 25975091 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498636,essv2498957,essv2510840 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA19114,NA19116 esv4572 11 25985959 25986327 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27013 S 1 0 1 Single Asian sample YH "" YH nsv525249 11 25998282 25999025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701343 S 2026 0 1 "" esv272809 11 26024026 26024346 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580183,essv2580275,essv2579867,essv2580807,essv2579057,essv2579792 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1472380 11 26034977 26035061 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010432 S 2 0 1 "" HuRef nsv521540 11 26048546 26051933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698156 S 2026 0 1 "" esv274537 11 26085176 26085483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579990 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv271438 11 26085198 26085560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511718,essv2496332,essv2493603,essv2494818,essv2509056,essv2506125,essv2505696,essv2504775,essv2510848,essv2497037,essv2499610,essv2501726,essv2502039 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18510,NA18517,NA18519,NA18522,NA18523,NA18861,NA19099,NA19116,NA19190,NA19225,NA19239,NA19257 nsv832094 11 26087309 26249358 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449063 S 95 1 0 "" nsv7718 11 26088227 26117034 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10810 S 9 1 0 "" NA18956 esv273276 11 26116527 26118455 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580591,essv2579577 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv7719 11 26124637 26178153 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2860,nssv10811 M 9 2 0 "" NA18555,NA18956 esv2004328 11 26224529 26224961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764347 S 1 0 1 "" NA18507 esv267766 11 26249787 26250121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510226,essv2500851,essv2511014,essv2496668,essv2504476,essv2493346,essv2504995,essv2508798,essv2502759 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11830,NA11831,NA11894,NA11993,NA12776,NA12828,NA12878,NA12892 esv274585 11 26249817 26250099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581943,essv2582892 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv2487677 11 26278115 26279426 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377015 S 1 0 1 "" NA18507 esv2301910 11 26278865 26279412 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641641 S 1 0 1 "" NA18507 esv2422406 11 26286446 26430217 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161308 S 181 0 1 ANO3 ND04178 esv997110 11 26361620 26361684 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583112 S 3 0 1 ANO3 HuRef esv1378455 11 26375117 26375117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307876 S 2 1 0 ANO3 HuRef nsv38806 11 26385201 26390918 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57384 M 24 ANO3 nsv467778 11 26442096 26560502 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542969 S 1557 0 1 ANO3,MUC15 NINDS_156 nsv521916 11 26442096 26561907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694687 S 2026 0 1 ANO3,MUC15 esv1774662 11 26507435 26507550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063303 S 2 0 1 ANO3 HuRef esv270788 11 26558211 26558521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570817,essv2556807,essv2545393,essv2523202,essv2548428,essv2550491,essv2547533,essv2558660,essv2537569,essv2528377,essv2546919,essv2569839,essv2523898,essv2541130,essv2540242,essv2565090,essv2534888,essv2561175,essv2539758,essv2549295,essv2519909,essv2566264,essv2532787,essv2567989,essv2528946,essv2541766,essv2570325,essv2535656,essv2541911,essv2543609,essv2539416,essv2574049,essv2573483,essv2543377,essv2575063,essv2538662,essv2568638,essv2571292,essv2574118,essv2551505,essv2538127,essv2532937,essv2563185 M 157 43 0 Samples from several populations that are part of the HapMap project. ANO3 NA07000,NA07051,NA10847,NA11993,NA11994,NA12003,NA12004,NA12045,NA12234,NA12717,NA12750,NA12878,NA12891,NA12892,NA18520,NA18537,NA18545,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18856,NA18870,NA18912,NA18951,NA18964,NA18965,NA19102,NA19108,NA19147,NA19238,NA19240,NA19257 esv274280 11 26558211 26558521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581937,essv2582593,essv2582903,essv2584366,essv2583499 M 7 5 0 Samples from several populations that are part of the HapMap project. ANO3 NA12878,NA12891,NA12892,NA19238,NA19240 esv28385 11 26564534 26567489 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10740 S 451 2 0 ANO3 NA11993,NA12287 esv259832 11 26564840 26567523 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396755,essv2400012,essv2396081,essv2396042,essv2399391,essv2399600 M 144 0 0 Samples from several populations that are part of the HapMap project. ANO3 NA07000,NA07051,NA07346,NA12003,NA12287,NA12761 nsv522526 11 26565073 26567094 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705898 S 2026 1 0 ANO3 esv28858 11 26615102 26616260 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18495 S 451 2 0 ANO3 NA19108,NA19190 nsv897141 11 26615982 26630609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515348 S 6533 0 1 ANO3 SP56172 nsv467779 11 26618266 26630609 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542970 S 1557 0 1 ANO3 1780854538_A esv275492 11 26619970 26624389 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585327,essv2585109 M 1250 1 1 ANO3 esv1978126 11 26636391 26636764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760680 S 1 0 1 ANO3 NA18507 nsv819331 11 26647744 26647954 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419226 S 2 1 0 SLC5A12 AK1 esv1423248 11 26658459 26658459 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064062 S 2 1 0 SLC5A12 HuRef nsv39059 11 26658462 26658525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57637 M 24 SLC5A12 dgv1056n71 11 26742697 26859639 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897142,nsv897143,nsv897144 M 6533 0 3 "" IS30196,IS35789,MS19941 nsv897145 11 26750944 26833409 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536214 S 6533 1 0 "" MS12648 nsv897146 11 26870512 26975907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579182 S 6533 0 1 FIBIN IS35028 nsv897147 11 26939939 27215475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583736 S 6533 0 1 BBOX1,FIBIN IS36640 esv274104 11 26981651 26981977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578998 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269937 11 26981776 26981955 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510160,essv2500827,essv2511035,essv2496690,essv2506802,essv2495436,essv2511217,essv2495295,essv2502284,essv2500194,essv2501708,essv2512271,essv2513192,essv2495839,essv2502532,essv2503821,essv2493395,essv2512500,essv2511765,essv2510551,essv2504104,essv2493731,essv2494795,essv2509126,essv2506137,essv2503368,essv2497283,essv2494563,essv2497214,essv2499998,essv2508253,essv2499861,essv2507800,essv2506387,essv2511266,essv2500677,essv2494484,essv2507667,essv2512699,essv2508180,essv2508455,essv2510041,essv2499319,essv2507503,essv2505188,essv2498626,essv2509300,essv2507404,essv2511595,essv2497842,essv2503492,essv2500533,essv2496032,essv2495224,essv2502703,essv2500767,essv2505597,essv2501261,essv2499124,essv2498851,essv2497645,essv2512001,essv2501897,essv2498072,essv2502155,essv2503972,essv2495097,essv2504335,essv2499593 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA07357,NA10851,NA11830,NA11831,NA11894,NA11918,NA11919,NA11931,NA11992,NA12004,NA12006,NA12144,NA12155,NA12249,NA12489,NA12750,NA12761,NA12776,NA18489,NA18499,NA18501,NA18505,NA18517,NA18519,NA18522,NA18523,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18605,NA18638,NA18853,NA18858,NA18909,NA18912,NA18940,NA18945,NA18947,NA18956,NA18961,NA18964,NA18965,NA18973,NA19005,NA19093,NA19114,NA19138,NA19147,NA19238,NA19239,NA19240,NA19257 nsv897148 11 26983000 27027694 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536215 S 6533 1 0 BBOX1 MS12648 nsv508619 11 26985070 27067310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619033 S 4 0 1 BBOX1 NA10860 esv269751 11 26996520 26996863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514159,essv2514293,essv2517774 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12874,NA12878 esv273303 11 26996520 26996863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581418 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv7720 11 27028575 27037273 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8891 S 9 0 1 BBOX1 NA12156 nsv467782 11 27149291 27452737 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542971 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC34,LGR4 HGDP00068 esv2427685 11 27263793 27265308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181962 S 1 0 1 "" NA18507 esv2143296 11 27264250 27264987 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719107 S 1 0 1 "" NA18507 esv3240 11 27264381 27264850 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25681 S 1 0 1 Single Asian sample YH "" YH esv5533 11 27264449 27264778 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27974 S 1 0 1 "" SJK esv1083030 11 27264462 27264795 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169122 S 2 0 1 "" HuRef nsv832095 11 27495202 27672315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449065,nssv1449064 M 95 2 0 BDNF,BDNF-AS1 esv1476336 11 27545808 27545808 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078285 S 2 1 0 BDNF-AS1 HuRef esv1745758 11 27546011 27546405 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020834 S 2 0 1 BDNF-AS1 HuRef esv2064689 11 27613657 27614359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760530 S 1 0 1 BDNF-AS1 NA18507 esv3454 11 27613775 27614243 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25895 S 1 0 1 Single Asian sample YH BDNF-AS1 YH esv5866 11 27613834 27614191 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28307 S 1 0 1 BDNF-AS1 SJK nsv819223 11 27634423 27634716 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419792 S 2 1 0 BDNF,BDNF-AS1 AK1 esv269865 11 27761550 27761706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506302,essv2505225,essv2506526,essv2498928 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18853,NA19108,NA19138 esv2373516 11 27778619 27779147 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565387 S 1 0 1 "" NA18507 esv3727 11 27778776 27779081 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26168 S 1 0 1 Single Asian sample YH "" YH esv1002805 11 27778801 27778996 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568502 S 3 0 1 "" HuRef esv2506331 11 27778801 27778996 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309165 S 1 0 1 "" NA18507 esv1157641 11 27778805 27779001 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166473 S 2 0 1 "" HuRef nsv897149 11 27959359 28025559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597013 S 6533 1 0 KIF18A IS40703 nsv832096 11 27977011 28112162 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449066 S 95 0 1 KIF18A,METTL15,MIR610 esv9041 11 28022334 28022395 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31482 S 1 1 0 KIF18A SJK nsv897150 11 28066786 28259368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568079 S 6533 0 1 KIF18A,METTL15 IS31198 dgv1057n71 11 28086767 28174879 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897152,nsv897151 M 6533 0 2 METTL15 IS31904,IS34599 nsv38603 11 28095384 28100481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57181 M 24 METTL15 nsv521677 11 28414313 28425901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698296 S 2026 0 1 "" nsv897153 11 28540390 28688993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585134 S 6533 0 1 "" IS37293 nsv832097 11 28573327 28607450 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449067,nssv1449068 M 95 0 2 "" nsv832098 11 28580520 28741706 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449069 S 95 1 0 "" nsv525900 11 28659781 28670715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702104 S 2026 0 1 "" nsv469516 11 28678018 28827478 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649692 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv507586 11 28679044 28685044 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623346,nssv617811,nssv620723 M 4 3 0 "" CHM,NA15510,NA18994 nsv516406 11 28683140 28739760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674583,nssv668124 M 2026 0 2 "" esv270777 11 28696578 28697653 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517971 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv7721 11 28738314 28782974 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8892 S 9 0 1 "" NA12156 nsv39366 11 28773250 28773250 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57944 M 24 "" nsv818808 11 28773852 28815354 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416779 S 112 0 1 "" NA19159 nsv897154 11 28832981 29030823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536216 S 6533 1 0 "" MS12648 nsv507587 11 28842562 28848562 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619285,nssv620727,nssv623349 M 4 3 0 "" NA10860,NA15510,NA18994 essv15316 11 28881069 29029074 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18862 dgv1058n71 11 28884519 29015691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897156,nsv897157,nsv897158,nsv897155 M 6533 0 4 "" MS20612,MS21738,MS22146,MS22756 nsv832099 11 28904325 29082099 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449070 S 95 1 0 "" dgv1059n71 11 28905071 29091959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897167,nsv897159 M 6533 0 2 "" IS33839,MS20616 dgv1060n71 11 28905071 29180582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897162,nsv897161,nsv897160 M 6533 0 5 "" IS30146,IS35701,IS37428,IS41819,MS14485 nsv897163 11 28922874 29358810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591114 S 6533 0 1 "" IS38637 nsv897164 11 28935894 29030823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579526 S 6533 0 1 "" IS35127 nsv7722 11 28943901 29004217 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8894,nssv1931,nssv9942,nssv3939 M 9 0 4 "" NA12156,NA12878,NA18507,NA18555 dgv1061n71 11 28944919 29018619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897165,nsv897166,nsv897168 M 6533 0 4 "" MS13205,MS15312,MS17130,MS23258 nsv511468 11 28958813 28969197 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626083 S 1 1 0 "" 1 nsv508620 11 28960325 28965709 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622818 S 4 0 1 "" NA18994 esv2568726 11 28960562 28971203 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325963 S 1 0 1 "" NA18507 dgv1062n71 11 28961164 29091959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897171,nsv897170,nsv897169 M 6533 0 3 "" IS35498,MS12138,MS17872 esv989718 11 28962139 28971275 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565561 S 3 0 1 "" HuRef dgv36n16 11 28962961 28970373 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436123,nsv435924 M 2 0 2 "" NA15510,NA18505 esv2523654 11 28963024 28969920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239243 S 1 0 1 "" NA18507 nsv819724 11 28963107 28969322 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419760 S 2 1 0 "" AK1 esv1970839 11 28963681 28969553 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918875 S 1 0 1 "" NA18507 esv22361 11 28963726 28969302 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16708 S 451 29 0 "" NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 dgv202n67 11 28963726 28969666 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825800,nsv825801,nsv825799 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821542 11 28963726 28969666 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420933 S 1 0 1 "" NA10851 esv6696 11 28963773 28969478 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29137 S 1 0 1 "" SJK nsv514606 11 28964688 28968340 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628093 S 1414 0 1 "" nsv8804 11 28965284 28969670 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19820,nssv25156,nssv20469,nssv19666,nssv18305,nssv18161,nssv22183,nssv22231,nssv17950,nssv20297,nssv20125,nssv18232,nssv20968,nssv22693,nssv19164,nssv22852,nssv19954,nssv19965,nssv19616,nssv18259,nssv22964,nssv23527 M 31 22 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 esv2179394 11 28979970 28980388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583873 S 1 0 1 "" NA18507 nsv897172 11 29080758 29177714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599702,nssv1596755,nssv1564735,nssv1547374,nssv1601053 M 6533 0 5 "" IS30292,IS40627,IS41771,IS41964,MS17359 esv5316 11 29095733 29097058 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27757 S 1 0 1 Single Asian sample YH "" YH nsv512215 11 29095796 29097036 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624784 S 1 0 1 "" 1 esv22912 11 29095953 29096982 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13031,esv14628 M 451 3 3 "" NA12004,NA12006,NA12414,NA15510,NA18858,NA18916 nsv821097 11 29096114 29096643 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420934 S 1 0 1 "" NA10851 nsv517327 11 29138619 29173959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655624,nssv666147,nssv656027,nssv651727,nssv677051,nssv682015,nssv677832,nssv687240,nssv663145 M 2026 0 9 "" nsv7724 11 29306386 29338251 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10812 S 9 1 0 "" NA18956 esv268865 11 29420248 29420578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510285,essv2503218,essv2511170,essv2502883,essv2495373,essv2508848,essv2500303,essv2504124,essv2493580,essv2506003,essv2507679,essv2505302,essv2500905,essv2498574,essv2495570,essv2504902,essv2503126,essv2511151,essv2502487,essv2512379,essv2493071,essv2502743,essv2512784,essv2501498,essv2506686,essv2499821,essv2501906,essv2503967,essv2504377,essv2499541 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA07357,NA10851,NA11881,NA11931,NA12156,NA12287,NA12878,NA12891,NA18505,NA18517,NA18523,NA18576,NA18853,NA18856,NA18858,NA18916,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18965,NA18980,NA19093,NA19108,NA19225,NA19239 esv274314 11 29420302 29420592 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580694,essv2579698 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv273641 11 29441721 29442944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581013,essv2579209,essv2579484 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv23299 11 29486617 29487364 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12317 S 451 0 1 "" NA18508 esv2306746 11 29532527 29532945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608561 S 1 0 1 "" NA18507 nsv832100 11 29535135 29718931 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449074,nssv1449071 M 95 2 0 "" nsv832101 11 29615686 29775173 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449075 S 95 1 0 "" nsv832102 11 29661002 29811727 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449076 S 95 0 1 "" esv2423626 11 29703947 29705497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352413 S 1 0 1 "" NA18507 esv1946184 11 29704653 29705376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758314 S 1 0 1 "" NA18507 esv6899 11 29704854 29705183 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29340 S 1 0 1 "" SJK esv2475283 11 29704854 29705189 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209226 S 1 0 1 "" NA18507 nsv511470 11 29921416 29925803 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626085 S 1 0 1 "" 1 nsv512216 11 29923921 29925212 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624785 S 1 0 1 "" 1 esv4234 11 29924108 29925114 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26675 S 1 0 1 Single Asian sample YH "" YH dgv203n67 11 29924125 29925052 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825803,nsv825802 M 31 0 4 "" NA18537,NA18547,NA18570,NA18973 nsv819512 11 29924147 29925082 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419127 S 2 0 1 "" AK1 esv22408 11 29924150 29925025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11982 S 451 0 18 "" NA06985,NA07037,NA11894,NA11931,NA12004,NA12044,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA18508,NA18517,NA18858,NA19114,NA19190,NA19240 esv1000641 11 29924154 29925041 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571469 S 3 0 1 "" HuRef dgv204n67 11 29924339 29925052 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825804,nsv825805 M 31 0 5 "" AK4,NA18582,NA18949,NA18969,NA18997 essv13342 11 30121848 30136966 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18500 nsv437712 11 30121848 30310301 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467593 S 60 0 1 Samples from several populations that are part of the HapMap project. C11orf46,FSHB NA18500 nsv437714 11 30126432 30147389 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467595 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19145 nsv8805 11 30127846 30134156 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20998,nssv22452,nssv22261 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA19144,NA19240 esv2421418 11 30128415 30133586 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5025858,essv5135084,essv5008089,essv5004736,essv5094896,essv5007972,essv5144358,essv5095206,essv5129774,essv5008840,essv5132543,essv5106587,essv5142851,essv5034436,essv5031799,essv5035673,essv5048728,essv5135327,essv5019689,essv5030974,essv5143510,essv5036449,essv5071178,essv5134396,essv5040512,essv5070635,essv5045753,essv5129730,essv5040858,essv5132663,essv5160577,essv5141330,essv5134140,essv5109981 M 1184 0 34 "" NA18500,NA18501,NA19046,NA19108,NA19122,NA19143,NA19144,NA19150,NA19151,NA19197,NA19239,NA19240,NA19256,NA19310,NA19315,NA19383,NA19396,NA19397,NA19430,NA19431,NA19455,NA19463,NA19474,NA19818,NA19835,NA19836,NA20126,NA20128,NA20289,NA20302,NA20317,NA20319,NA20341,NA21491 essv12876 11 30128415 30136966 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18502 esv27302 11 30128604 30133428 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10840 S 451 0 3 "" NA18502,NA19108,NA19240 nsv514607 11 30129308 30133452 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628094 S 1414 0 1 "" nsv442608 11 30129311 30137019 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv269235 11 30136998 30143124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510769,essv2494262,essv2505313,essv2507141,essv2506540,essv2501866,essv2498198 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18853,NA18870,NA19108,NA19239,NA19240 esv272961 11 30137013 30143117 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580250,essv2580389,essv2579033 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 nsv832103 11 30398251 30563188 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449077 S 95 0 1 MPPED2 nsv825806 11 30523039 30523786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422006 S 31 0 1 MPPED2 NA18997 nsv832105 11 30640502 30831706 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449078 S 95 0 1 "" esv2279290 11 30796177 30796600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519855 S 1 0 1 "" NA18507 nsv897173 11 30845785 31047808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553880 S 6533 0 1 DCDC5 MS20359 nsv897174 11 30883776 30924547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513958 S 6533 0 1 DCDC5 SP55878 nsv507588 11 30905171 30911171 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619286,nssv622825,nssv617812,nssv620731 M 4 4 0 DCDC5 CHM,NA10860,NA15510,NA18994 esv2540017 11 30905830 30907904 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171175 S 1 0 1 DCDC5 NA18507 nsv513309 11 30906677 30907275 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625695 S 1 1 0 DCDC5 1 esv1245858 11 30906737 30906737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974015 S 2 1 0 DCDC5 HuRef nsv897175 11 30930691 31182283 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509562 S 6533 1 0 DCDC5 SP54875 essv17950 11 30936338 31020588 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DCDC5 NA12003 nsv516888 11 30956400 30965664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661196,nssv654720,nssv683613 M 2026 0 3 DCDC5 nsv897176 11 30965664 31133684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536217 S 6533 1 0 DCDC5 MS12648 nsv529004 11 30970320 31679060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705711 S 2026 0 1 DCDC1,DCDC5,DNAJC24,ELP4,IMMP1L dgv61n21 11 30983795 31081599 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528490,nsv527534 M 2026 0 2 "" esv2751022 11 31019531 31504508 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990166,essv6985901,essv6985902 M 771 0 1 DCDC1,DNAJC24,ELP4,IMMP1L SPC_83 esv7469 11 31063011 31063106 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29910 S 1 1 0 "" SJK esv2641402 11 31108148 31109752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390023 S 1 0 1 "" NA18507 esv2318311 11 31108820 31109537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869716 S 1 0 1 "" NA18507 esv4152 11 31108943 31109446 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26593 S 1 0 1 Single Asian sample YH "" YH esv996936 11 31109010 31109325 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568257 S 3 0 1 "" HuRef esv9449 11 31109016 31109323 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31890 S 1 0 1 "" SJK esv1706754 11 31109023 31109339 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861360 S 2 0 1 "" HuRef nsv825807 11 31169567 31170192 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422007 S 31 0 1 "" NA18997 nsv832106 11 31195989 31386312 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449086,nssv1449085,nssv1449082,nssv1449090,nssv1449093,nssv1449089,nssv1449092,nssv1449091,nssv1449083,nssv1449081,nssv1449088,nssv1449080,nssv1449087,nssv1449079 M 95 14 0 DCDC1,DNAJC24 esv274356 11 31229569 31229913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584416,essv2583804 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv897177 11 31238411 31285788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536541 S 6533 0 1 DCDC1 MS12827 nsv897178 11 31238411 31384760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536817 S 6533 0 1 DCDC1,DNAJC24 MS12972 nsv7725 11 31337783 31359097 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6454 S 9 0 1 DCDC1,DNAJC24 NA12156 nsv508621 11 31340300 31373713 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620196 S 4 0 1 DCDC1,DNAJC24 NA15510 nsv467784 11 31342395 31384778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542973 S 1557 0 1 DCDC1,DNAJC24 1780862202_A dgv205n67 11 31350053 31354188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825812,nsv825810,nsv825811 M 31 0 7 DNAJC24 AK12,AK16,AK2,AK20,AK8,NA18969,NA18997 nsv820987 11 31350053 31354188 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420936 S 1 0 1 DNAJC24 NA10851 nsv820247 11 31350277 31354990 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419655 S 2 1 0 DNAJC24 AK1 nsv498752 11 31350349 31354226 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586450 S 9 0 1 DNAJC24 esv22237 11 31350354 31354052 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14498 S 451 25 1 DNAJC24 NA07037,NA11995,NA12006,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv514608 11 31350360 31353952 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628095 S 1414 0 1 DNAJC24 nsv897179 11 31384778 31620916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513959 S 6533 0 1 DNAJC24,ELP4,IMMP1L SP55878 esv1006845 11 31397975 31398447 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587198 S 3 0 1 DNAJC24 HuRef nsv467785 11 31445466 31652912 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542974 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ELP4,IMMP1L HGDP00106 dgv1063n71 11 31445466 31696841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897181,nsv897180,nsv897182,nsv897183 M 6533 0 7 ELP4,IMMP1L IS33533,MS10737,MS11669,MS12827,MS18847,MS22104,SP50749 nsv897184 11 31533344 31578547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513198 S 6533 0 1 ELP4 SP55694 nsv897185 11 31533344 31677197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583579,nssv1523458 M 6533 0 2 ELP4 IS36533,SP54030 nsv897186 11 31558165 31585231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505056 S 6533 0 1 ELP4 SP53041 dgv62n21 11 31579110 31659092 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528204,nsv520360 M 2026 0 5 ELP4 nsv825813 11 31581503 31646395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439124 S 31 0 1 ELP4 NA18973 nsv897187 11 31607765 31659092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505057 S 6533 0 1 ELP4 SP53041 nsv7726 11 31635703 31681307 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6455 S 9 0 1 ELP4 NA12156 nsv7727 11 31704913 31749876 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8895 S 9 0 1 ELP4 NA12156 nsv825814 11 31740399 31741342 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422010 S 31 1 0 ELP4 NA18997 nsv825815 11 31772164 31809406 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428522 S 31 1 0 DKFZp686K1684,PAX6 AK10 nsv7728 11 31781480 31826515 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8896 S 9 0 1 DKFZp686K1684,PAX6 NA12156 nsv897188 11 31782708 31813064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510003 S 6533 0 1 DKFZp686K1684,PAX6 SP54956 nsv825816 11 31793845 31794373 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422011 S 31 1 0 PAX6 NA18997 esv2546799 11 31872912 31874207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190558 S 1 0 1 "" NA18507 esv2210502 11 31873115 31873830 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710252 S 1 0 1 "" NA18507 esv991504 11 31873290 31873618 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570955 S 3 0 1 "" HuRef nsv7729 11 31906626 31941623 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3940 S 9 1 0 "" NA12878 esv270241 11 31908651 31908737 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540822,essv2523081,essv2531904,essv2548611,essv2544255,essv2553604,essv2562118,essv2536127,essv2537724,essv2533085 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA11831,NA11931,NA12006,NA12045,NA12414,NA12763,NA12874 esv29348 11 31923697 31925464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16199 S 451 0 7 "" NA18502,NA18505,NA18907,NA18909,NA18916,NA19225,NA19257 nsv39037 11 31923749 31925874 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57615 M 24 "" esv6622 11 31945900 31945977 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29063 S 1 1 0 "" SJK nsv832107 11 31966117 32145700 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449097,nssv1449094,nssv1449096 M 95 3 0 RCN1 nsv7730 11 32041324 32065599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1001 S 9 1 0 "" NA19240 nsv39810 11 32075460 32076469 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58388 M 24 RCN1 esv272382 11 32149021 32149377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578911 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270690 11 32149038 32149328 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495462,essv2500337,essv2508971,essv2504675,essv2503647,essv2503932 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11919,NA12891,NA18522,NA19099 nsv7731 11 32169834 32201531 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10813 S 9 1 0 "" NA18956 nsv825817 11 32184747 32185798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428523 S 31 0 1 "" AK10 esv2441658 11 32242814 32244151 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389173 S 1 0 1 "" NA18507 esv2017334 11 32243017 32243760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4683613 S 1 0 1 "" NA18507 esv3827 11 32243169 32243642 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26268 S 1 0 1 Single Asian sample YH "" YH nsv39576 11 32243217 32243549 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58154 M 24 "" esv988325 11 32243224 32243556 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566190 S 3 0 1 "" HuRef esv9301 11 32243226 32243551 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31742 S 1 0 1 "" SJK esv1468775 11 32243229 32243562 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166620 S 2 0 1 "" HuRef nsv518414 11 32327791 32332245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695849 S 2026 0 1 "" esv1009110 11 32331202 32347555 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564110 S 3 0 0 "" HuRef esv270435 11 32344623 32344956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514595,essv2515410,essv2518639,essv2515776,essv2518071,essv2518979,essv2518259 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12249,NA12287,NA12815,NA12872,NA19141,NA19240 esv272621 11 32344623 32344956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581283 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv512217 11 32345390 32347339 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624786 S 1 0 1 "" 1 nsv832108 11 32352513 32517159 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449098,nssv1449100,nssv1449099 M 95 0 3 WT1,WT1-AS esv273806 11 32390813 32391080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580273 S 7 1 0 Samples from several populations that are part of the HapMap project. WT1 NA12891 esv271370 11 32390822 32391151 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541059,essv2525972,essv2523385,essv2548317,essv2521595,essv2576800,essv2535219,essv2554105,essv2558634,essv2577713,essv2520080,essv2554854,essv2561788,essv2546912,essv2539946,essv2520943,essv2557467,essv2556936,essv2552366,essv2551919,essv2558736,essv2536855,essv2527231,essv2544690,essv2563059,essv2541225,essv2538464,essv2542770,essv2540653,essv2524605,essv2564896,essv2534919,essv2561159,essv2539699,essv2519623,essv2522132,essv2566125,essv2531017,essv2532454,essv2568015,essv2528698,essv2541743,essv2570143,essv2563669,essv2553321,essv2535500,essv2572465,essv2559118,essv2568958,essv2527736,essv2539343,essv2578423,essv2573044,essv2555182,essv2533582,essv2567142,essv2566471,essv2529958,essv2527475,essv2555878,essv2534475,essv2522566,essv2531578,essv2573448,essv2543159,essv2573314,essv2529653,essv2575595,essv2538567,essv2526622,essv2524175,essv2571405,essv2545834,essv2574082,essv2551602,essv2554422 M 157 76 0 Samples from several populations that are part of the HapMap project. WT1 NA07346,NA11831,NA11918,NA12004,NA12045,NA12144,NA12154,NA12249,NA12287,NA12750,NA12761,NA12815,NA12872,NA12874,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18516,NA18517,NA18522,NA18526,NA18532,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18907,NA18912,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA19093,NA19099,NA19108,NA19114,NA19129,NA19238,NA19239,NA19240,NA19257 nsv832109 11 32617890 32787125 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449101 S 95 1 0 CCDC73 nsv897189 11 32633646 32708074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536218 S 6533 1 0 CCDC73 MS12648 essv7540 11 32671219 33006516 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC73,DEPDC7,PRRG4,QSER1 NA18545 esv270137 11 32702611 32702885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511741,essv2513395 M 157 2 0 Samples from several populations that are part of the HapMap project. CCDC73 NA18499,NA18907 esv2646311 11 32732943 32734792 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364606 S 1 0 1 CCDC73 NA18507 esv1483356 11 32734075 32734467 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731764 S 2 0 1 CCDC73 HuRef essv6421 11 32749360 32915185 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC73,PRRG4,QSER1 NA18545 esv34742 11 32752668 32960600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986849,essv6979389,essv6990358,essv6979388 M 771 1 0 CCDC73,PRRG4,QSER1 NA18545 nsv897190 11 32758497 32908412 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511923 S 6533 1 0 CCDC73,PRRG4,QSER1 SP55174 nsv897191 11 32761745 32859839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520027 S 6533 1 0 CCDC73,PRRG4 SP50646 dgv1064n71 11 32785336 32859839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897192,nsv897193 M 6533 3 0 PRRG4 MS11482,MS18077,MS18533 nsv825818 11 32806480 32808741 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432289 S 31 0 1 PRRG4 AK20 esv267563 11 32848598 32848944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516643,essv2515039,essv2515631,essv2516058 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12812,NA12815,NA12873 esv1592668 11 32848634 32848634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836551 S 2 1 0 "" HuRef nsv38614 11 32942904 32944066 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57192 M 24 QSER1 dgv1065n71 11 32950463 33515762 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897194,nsv897195 M 6533 2 0 CSTF3,DEPDC7,HIPK3,LINC00294,LOC338739,QSER1,TCP11L1 IS30593,SP51175 esv24235 11 33005200 33012302 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19797 S 451 1 0 DEPDC7 NA11995 nsv467786 11 33021970 33433279 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542975 S 1557 1 0 CSTF3,HIPK3,LINC00294,LOC338739,TCP11L1 1780854545_A nsv521130 11 33024965 33559489 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682795,nssv682672,nssv685366 M 2026 3 0 C11orf41,CSTF3,HIPK3,LINC00294,LOC338739,TCP11L1 dgv1066n71 11 33063192 33113530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897197,nsv897196,nsv897198 M 6533 0 3 CSTF3 SP52114,SP55565,SP56004 nsv897199 11 33075464 33127429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499751 S 6533 0 1 CSTF3 SP50649 dgv1067n71 11 33089440 33339661 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897200,nsv897201 M 6533 2 0 CSTF3,HIPK3,LOC338739 IS41224,SP56047 nsv897202 11 33167766 33384831 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593952 S 6533 1 0 HIPK3,LOC338739 IS39642 esv269234 11 33191659 33192021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518642,essv2514982,essv2516409,essv2514322,essv2517653 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12812,NA12814,NA12874,NA12878 esv272304 11 33191659 33192021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581569 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv897203 11 33193220 33296169 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512444 S 6533 1 0 HIPK3 SP55511 dgv11n68 11 33286162 33504263 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832111,nsv832110 M 95 2 0 HIPK3 nsv467787 11 33339661 33497252 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542976 S 1557 1 0 "" 1780854328_A esv1243350 11 33341022 33341076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875694 S 2 0 1 "" HuRef esv2512099 11 33381117 33381937 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230245 S 1 1 0 "" NA18507 esv1012592 11 33381481 33381481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165758 S 2 1 0 "" HuRef nsv7732 11 33386088 33431268 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8897 S 9 0 1 "" NA12156 esv259892 11 33424946 33425414 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395249,essv2399318,essv2394615,essv2395200,essv2399814 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18522,NA18870,NA19108,NA19129 nsv832112 11 33426358 33639628 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449104 S 95 1 0 C11orf41 esv2551078 11 33493770 33495099 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312588 S 1 0 1 "" NA18507 esv2386721 11 33494068 33494761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610013 S 1 0 1 "" NA18507 esv2932 11 33494179 33494635 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25373 S 1 0 1 Single Asian sample YH "" YH dgv4e197 11 33494249 33494574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2565144,esv2485963 M 1 0 1 "" NA18507 esv1006277 11 33494254 33494576 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579313 S 3 0 1 "" HuRef esv7795 11 33494260 33494570 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30236 S 1 0 1 "" SJK esv1726733 11 33494263 33494586 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136718 S 2 0 1 "" HuRef nsv825819 11 33516795 33517423 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436898 S 31 0 1 "" NA18542 esv2312289 11 33533052 33533452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957561 S 1 0 1 C11orf41 NA18507 nsv832113 11 33565778 33724357 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449105 S 95 1 0 C11orf41,C11orf91,CD59,FBXO3 esv271736 11 33581336 33581670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517425,essv2514739,essv2516499,essv2517638 M 157 4 0 Samples from several populations that are part of the HapMap project. C11orf41 NA11918,NA12234,NA12814,NA12878 esv272613 11 33581336 33581670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581637 S 7 1 0 Samples from several populations that are part of the HapMap project. C11orf41 NA12878 esv1275018 11 33581369 33581369 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595398 S 2 1 0 C11orf41 HuRef nsv825821 11 33584849 33585374 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432290 S 31 0 1 C11orf41 AK20 esv2339040 11 33616343 33616778 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520913 S 1 0 1 C11orf41 NA18507 esv1006984 11 33621497 33624330 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564328 S 3 1 0 C11orf41 HuRef nsv513310 11 33626631 33626823 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625696 S 1 1 0 C11orf41 1 esv1598603 11 33626714 33626714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201923 S 2 1 0 C11orf41 HuRef esv268003 11 33673965 33674137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510221,essv2510104,essv2503214,essv2511380,essv2511172,essv2504460,essv2499421,essv2495378,essv2493388,essv2505049,essv2511874,essv2504252,essv2509658,essv2493627,essv2509025,essv2506045,essv2501049,essv2505713,essv2513318,essv2495612,essv2503455,essv2502408,essv2512348,essv2493042,essv2505423,essv2500572,essv2502630,essv2500772,essv2505635,essv2506678,essv2499833,essv2511531 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11829,NA11881,NA11920,NA11931,NA11993,NA12044,NA12287,NA12776,NA12828,NA18499,NA18505,NA18508,NA18517,NA18522,NA18523,NA18856,NA18861,NA18907,NA18916,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18965,NA18973,NA19005,NA19108,NA19225 nsv523356 11 33733910 33753984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699105 S 2026 0 1 FBXO3 nsv509398 11 33792687 33838431 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621181 S 4 1 0 LMO2 NA15510 nsv526555 11 33825183 33842870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702869 S 2026 0 1 LMO2 nsv825822 11 33827244 33828832 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429289,nssv1428851 M 31 0 2 "" AK12,NA18547 nsv825823 11 33827244 33829586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436061 S 31 0 1 "" NA18566 nsv519717 11 33837005 33843123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657832,nssv690123 M 2026 0 2 LMO2 esv1115754 11 33858309 33858309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893175 S 2 1 0 LMO2 HuRef nsv509399 11 33909147 34002046 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621183 S 4 1 0 "" NA15510 esv23298 11 33971792 33974887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10363 S 451 0 1 "" NA18907 nsv39346 11 34004296 34004296 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57924 M 24 "" esv5117 11 34005080 34005426 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27558 S 1 0 1 Single Asian sample YH "" YH nsv509400 11 34088858 34210610 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621186 S 4 1 0 ABTB2,NAT10 NA15510 nsv820233 11 34127939 34130596 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419458 S 2 0 1 ABTB2 AK1 nsv820477 11 34128492 34130858 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420937 S 1 1 0 ABTB2 NA10851 dgv206n67 11 34128604 34130144 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825827,nsv825824 M 31 0 2 ABTB2 AK2,AK4 dgv207n67 11 34128604 34130652 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825829,nsv825830,nsv825833,nsv825832,nsv825828,nsv825826,nsv825825 M 31 0 11 ABTB2 AK10,AK20,AK8,NA18547,NA18552,NA18564,NA18566,NA18592,NA18947,NA18951,NA18972 esv259699 11 34128658 34130791 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396750,essv2399056,essv2400293,essv2400578 M 144 0 0 Samples from several populations that are part of the HapMap project. ABTB2 NA07000,NA10851,NA11881,NA12043 esv26380 11 34128668 34130763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20629 S 451 0 17 ABTB2 NA07037,NA11995,NA12004,NA12044,NA12156,NA12414,NA12828,NA12878,NA15510,NA18502,NA18508,NA18909,NA19099,NA19190,NA19225,NA19240,NA19257 nsv523431 11 34148668 34156425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699186 S 2026 0 1 ABTB2 nsv517429 11 34153060 34156425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681272,nssv652320,nssv690493,nssv653953,nssv665303,nssv652757,nssv670360,nssv660240,nssv667359,nssv667767,nssv661975,nssv656242,nssv667868,nssv664626,nssv688737,nssv656071,nssv672505,nssv682079,nssv675826,nssv687773,nssv666277,nssv677938,nssv670875,nssv662727,nssv688065 M 2026 0 25 ABTB2 nsv511473 11 34159529 34169459 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626089 S 1 0 1 ABTB2 1 esv27543 11 34160320 34161395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10066 S 451 0 2 ABTB2 NA18916,NA19114 nsv442225 11 34177080 34179952 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABTB2 essv24323 11 34177080 34326812 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABTB2 NA11882 nsv8806 11 34177130 34182945 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20155 S 31 0 1 Samples from several populations that are part of the HapMap project. ABTB2 NA18980 nsv825834 11 34177208 34182374 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428866 S 31 0 1 ABTB2 NA18947 nsv515783 11 34187093 34193868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659705,nssv677719,nssv671464,nssv664772,nssv674117 M 2026 0 5 ABTB2 nsv818809 11 34196306 34310652 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418090 S 112 0 1 ABTB2 NA11882 nsv897204 11 34204805 34228288 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582243 S 6533 1 0 ABTB2 IS35867 dgv1068n71 11 34204805 34505482 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897209,nsv897205 M 6533 2 0 ABTB2,CAT,ELF5 IS35867,MS17723 esv24922 11 34208184 34209919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21260 S 451 0 1 ABTB2 NA11995 nsv897206 11 34209997 34294140 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583429 S 6533 1 0 ABTB2 IS36465 dgv1069n71 11 34210259 34577580 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897208,nsv897207 M 6533 2 0 ABTB2,CAT,ELF5 IS32843,IS35299 nsv509401 11 34233109 34307135 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621189 S 4 1 0 ABTB2 NA15510 nsv818810 11 34294140 34310652 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417666 S 112 0 1 ABTB2 NA18994 essv196 11 34294918 34315052 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABTB2 NA18994 nsv897210 11 34306003 34337651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516544 S 6533 1 0 ABTB2 SP56856 nsv508622 11 34307135 34319760 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622442 S 4 0 1 ABTB2 NA18994 esv29864 11 34329386 34330192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15386 S 451 0 1 ABTB2 NA19114 esv270508 11 34353924 34354009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516532,essv2513746 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12814 nsv832114 11 34381004 34564427 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449107 S 95 1 0 CAT,ELF5 esv2235781 11 34383671 34384131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842828 S 1 0 1 "" NA18507 esv6810 11 34383906 34384000 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29251 S 1 1 0 "" SJK nsv825835 11 34449729 34450189 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422012 S 31 1 0 CAT NA18997 dgv1070n71 11 34471517 34577580 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897212,nsv897211 M 6533 2 0 ELF5 IS36465,MS17723 nsv832116 11 34496112 34630476 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449108,nssv1449109,nssv1449110 M 95 3 0 EHF nsv526845 11 34581815 34589348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703203 S 2026 0 1 "" nsv507589 11 34588018 34594018 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622832 S 4 1 0 "" NA18994 nsv832117 11 34595584 34787775 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449113,nssv1449114,nssv1449112,nssv1449111 M 95 0 4 EHF dgv63n21 11 34599069 34737512 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519718,nsv518807 M 2026 2 0 EHF nsv897213 11 34651965 34709138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596772 S 6533 0 1 "" IS40635 nsv512218 11 34683957 34685990 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624787 S 1 0 1 "" 1 esv9728 11 34684674 34685208 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32169 S 1 0 1 "" SJK nsv832118 11 34699699 34860527 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449115 S 95 1 0 APIP nsv897214 11 34720827 34778524 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525157 S 6533 1 0 "" SP55537 esv1008651 11 34757668 34761217 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565411 S 3 1 0 "" HuRef nsv832119 11 34772104 34965946 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449116 S 95 1 0 APIP,MIR1343,PDHX esv275183 11 34834337 34837952 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585537 S 1250 0 1 "" nsv8807 11 34868743 34886865 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22993 S 31 1 0 Samples from several populations that are part of the HapMap project. APIP NA18972 essv21365 11 34869891 34893266 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. APIP NA10860 esv34511 11 34870700 34899412 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978538,essv6978539 M 771 0 1 APIP,PDHX NA11992 essv22260 11 34870713 34920304 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. APIP,MIR1343,PDHX NA11992 nsv437715 11 34898070 34908569 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467596 S 60 0 1 Samples from several populations that are part of the HapMap project. PDHX NA19145 nsv518924 11 34899152 34900947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696384 S 2026 0 1 PDHX nsv437716 11 34905162 34906772 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467597 S 60 0 1 Samples from several populations that are part of the HapMap project. PDHX NA18506 nsv825836 11 34940305 34940873 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422013 S 31 0 1 PDHX NA18997 nsv897215 11 34965809 35004935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500463 S 6533 0 1 PDHX SP50110 dgv361e1 11 34986509 35195154 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12469,essv11606 M 271 0 0 CD44 NA19207 nsv508623 11 35051509 35159939 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618694,nssv622446 M 4 0 2 CD44 NA10860,NA18994 nsv39411 11 35160029 35160029 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57989 M 24 CD44 dgv1071n71 11 35198565 35213892 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897219,nsv897217,nsv897216 M 6533 5 0 CD44 SP50753,SP54173,SP54478,SP54803,SP55652 dgv1072n71 11 35198565 35222020 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897222,nsv897218,nsv897221,nsv897220 M 6533 7 0 CD44 SP50914,SP50984,SP52160,SP52431,SP55729,SP55829,SP55856 nsv7733 11 35221543 35254186 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10814 S 9 1 0 SLC1A2 NA18956 esv1637302 11 35226763 35226763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764466 S 2 1 0 "" HuRef esv2623270 11 35226895 35227181 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253482 S 1 1 0 "" NA18507 nsv832120 11 35233986 35446880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449118 S 95 1 0 PAMR1,SLC1A2 esv269007 11 35261122 35261462 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509946,essv2508946,essv2494067,essv2509286,essv2501389,essv2506921,essv2499162,essv2493507 M 157 8 0 Samples from several populations that are part of the HapMap project. SLC1A2 NA18508,NA18522,NA18871,NA18909,NA19093,NA19102,NA19114,NA19137 essv13578 11 35275896 35437098 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PAMR1,SLC1A2 NA19160 esv2602066 11 35381529 35382341 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179660 S 1 1 0 SLC1A2 NA18507 nsv508624 11 35474005 35553245 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620204 S 4 0 1 PAMR1 NA15510 esv23286 11 35493204 35499015 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17109,esv15211 M 451 7 0 PAMR1 NA07045,NA11894,NA11995,NA12239,NA12828,NA18502,NA19190 nsv526788 11 35524851 35536465 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703140 S 2026 0 1 "" nsv832121 11 35530292 35665813 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449119 S 95 1 0 FJX1,TRIM44 nsv897223 11 35588163 35601138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511453 S 6533 0 1 FJX1 SP55021 nsv832122 11 35890336 36060324 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449120 S 95 1 0 LDLRAD3,MIR3973 esv2422305 11 35906274 36945491 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161290 S 181 1 0 C11orf74,COMMD9,LDLRAD3,MIR3973,PRR5L,RAG1,RAG2,TRAF6 ND04019 esv271874 11 35964133 35964431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539928,essv2532139,essv2561697,essv2566765,essv2538816,essv2574557,essv2572654,essv2568580 M 157 8 0 Samples from several populations that are part of the HapMap project. LDLRAD3 NA18489,NA18505,NA18523,NA18853,NA19108,NA19138,NA19143,NA19147 nsv7735 11 35976556 36010662 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1002 S 9 1 0 LDLRAD3,MIR3973 NA19240 nsv897224 11 36016559 36070924 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512124 S 6533 1 0 LDLRAD3 SP55287 esv1294533 11 36032982 36032982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288539 S 2 1 0 LDLRAD3 HuRef esv2548850 11 36033025 36033436 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194125 S 1 1 0 LDLRAD3 NA18507 nsv513311 11 36033147 36033469 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625697 S 1 1 0 LDLRAD3 1 nsv467791 11 36065073 36955961 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542977 S 1557 1 0 C11orf74,COMMD9,LDLRAD3,PRR5L,RAG1,RAG2,TRAF6 NINDS_178 nsv516850 11 36081666 36082328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700991,nssv679072,nssv657231,nssv691056,nssv679396,nssv671764,nssv654437,nssv675223,nssv685087,nssv690303,nssv673985,nssv674897 M 2026 0 12 LDLRAD3 nsv897225 11 36093488 36200766 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512125 S 6533 1 0 LDLRAD3 SP55287 nsv897226 11 36096510 36126445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551982 S 6533 0 1 LDLRAD3 MS19068 esv1443244 11 36123330 36123380 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259040 S 2 0 1 LDLRAD3 HuRef esv269629 11 36130136 36130410 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509661,essv2496541,essv2494699,essv2494930,essv2501286,essv2506989,essv2498787 M 157 7 0 Samples from several populations that are part of the HapMap project. LDLRAD3 NA18508,NA18510,NA18519,NA18520,NA19093,NA19102,NA19138 nsv510248 11 36210906 36216906 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618340 S 4 0 1 "" CHM esv267473 11 36233636 36233848 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546584,essv2545345,essv2523098,essv2577272,essv2521527,essv2552027,essv2576236,essv2563951,essv2561974,essv2542872,essv2564796,essv2568952,essv2533836,essv2577138,essv2530396,essv2532999 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11881,NA12003,NA12004,NA12043,NA12144,NA12489,NA12814,NA12828,NA12874,NA18550,NA18558,NA18861,NA18916,NA18970,NA19141 esv1531905 11 36265198 36265198 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983782 S 2 1 0 COMMD9 HuRef nsv513312 11 36265519 36266652 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625698 S 1 1 0 COMMD9 1 nsv526434 11 36276771 36277568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702737 S 2026 0 1 PRR5L esv2475332 11 36287548 36288272 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189141 S 1 1 0 PRR5L NA18507 esv3692 11 36287773 36288102 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26133 S 1 0 0 Single Asian sample YH PRR5L YH esv9649 11 36287839 36288075 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32090 S 1 0 0 PRR5L SJK esv32924 11 36292648 36292871 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93339 S 51 0 1 PRR5L 22170 esv273811 11 36296569 36296914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580121,essv2579923,essv2580784,essv2578880,essv2579515 M 7 5 0 Samples from several populations that are part of the HapMap project. PRR5L NA12878,NA12892,NA19238,NA19239,NA19240 esv268359 11 36296597 36296854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523054,essv2520282,essv2529093,essv2528594,essv2553104,essv2542709,essv2522027,essv2566150,essv2541633,essv2559051,essv2527644 M 157 11 0 Samples from several populations that are part of the HapMap project. PRR5L NA11931,NA12716,NA12749,NA12891,NA18542,NA18550,NA18571,NA18572,NA18592,NA18638,NA18952 esv33552 11 36298611 36299100 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93106 S 51 1 0 PRR5L 21863 esv32890 11 36299628 36300413 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93373 S 51 1 0 PRR5L 22170 esv8636 11 36303994 36304072 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31077 S 1 1 0 PRR5L SJK esv27622 11 36391269 36393541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14006 S 451 0 1 PRR5L NA18907 nsv518499 11 36423390 36436365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694243 S 2026 0 1 PRR5L esv272785 11 36477887 36477972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581261 S 7 1 0 Samples from several populations that are part of the HapMap project. TRAF6 NA19240 esv1601897 11 36485585 36485585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946989 S 2 1 0 TRAF6 HuRef esv1648317 11 36485693 36485693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759659 S 2 1 0 TRAF6 HuRef nsv7736 11 36509323 36523222 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1932,nssv5353 M 9 2 0 "" NA18555,NA19129 nsv832123 11 36539448 36714019 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449122,nssv1449121 M 95 2 0 C11orf74,RAG1,RAG2 nsv467792 11 36580763 36854949 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542978 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C11orf74 HGDP00828 nsv518415 11 36600652 36618299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695850 S 2026 0 1 C11orf74 esv29188 11 36603926 36611390 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14043 S 451 0 4 C11orf74 NA18523,NA18907,NA19099,NA19225 esv27238 11 36617855 36618312 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16740 S 451 0 1 C11orf74 NA12828 esv26459 11 36686823 36744598 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11137,esv19076 M 451 1 7 "" NA07037,NA11995,NA12006,NA12287,NA12828,NA18505,NA19190,NA19225 esv2572345 11 36733719 36735350 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164862 S 1 0 1 "" NA18507 esv2145386 11 36734299 36734862 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964730 S 1 0 1 "" NA18507 esv24489 11 36762792 36763470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15533 S 451 0 1 "" NA07037 nsv8808 11 36835873 37069944 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22722 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 esv275534 11 37074402 37078583 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585868,essv2585291 M 1250 1 1 "" esv2272939 11 37077737 37078154 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843303 S 1 0 1 "" NA18507 esv997713 11 37077913 37077975 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578964 S 3 0 1 "" HuRef esv1286285 11 37077914 37077976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626183 S 2 0 1 "" HuRef essv4311 11 37079701 37100001 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18564 nsv825837 11 37082382 37092162 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440548 S 31 0 1 "" NA18564 nsv8809 11 37083696 37094027 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19968 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv7737 11 37160971 37193803 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5354 S 9 1 0 "" NA19129 esv2189548 11 37168506 37168912 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958060 S 1 0 1 "" NA18507 nsv897227 11 37217524 37376169 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558337 S 6533 1 0 "" MS23212 esv29479 11 37240207 37259788 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17884 S 451 1 0 "" NA12239 esv270801 11 37282516 37287996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504013 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv528788 11 37301022 37334900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705458 S 2026 0 1 "" nsv897228 11 37311439 37846022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563289 S 6533 1 0 "" MS25946 esv1237838 11 37326497 37326497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322541 S 2 1 0 "" HuRef esv2084341 11 37405190 37405647 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993509 S 1 0 1 "" NA18507 esv3415 11 37405344 37405570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25856 S 1 0 1 Single Asian sample YH "" YH nsv39619 11 37405381 37405472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58197 M 24 "" esv270178 11 37501169 37501468 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510102,essv2511018,essv2505558,essv2502515,essv2503852,essv2505000,essv2507883,essv2500593,essv2500155,essv2508696,essv2507552,essv2513532,essv2503079,essv2504383,essv2499557,essv2513042 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA07357,NA10847,NA11829,NA11831,NA12154,NA12750,NA12761,NA12828,NA18564,NA18571,NA18573,NA18592,NA18638,NA18907,NA18943 nsv897229 11 37526395 37748135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578086 S 6533 0 1 "" IS34658 dgv1073n71 11 37565586 37705641 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897230,nsv897231 M 6533 0 3 "" IS34440,IS35018,MS20030 esv1653248 11 37574890 37574890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680966 S 2 1 0 "" HuRef esv1513776 11 37574910 37574910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929215 S 2 1 0 "" HuRef esv8744 11 37611146 37611220 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31185 S 1 1 0 "" SJK esv2506576 11 37622587 37624178 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210208 S 1 0 1 "" NA18507 esv2146341 11 37623013 37623714 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769719 S 1 0 1 "" NA18507 esv7920 11 37623221 37623514 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30361 S 1 0 1 "" SJK esv1041684 11 37623222 37623529 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274220 S 2 0 1 "" HuRef dgv1074n71 11 37639668 37986064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897233,nsv897232 M 6533 0 2 "" IS41319,MS17114 nsv516326 11 37645003 37662114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687127,nssv688612,nssv667593,nssv673289,nssv660555,nssv690653,nssv656694,nssv688698 M 2026 0 8 "" esv2511692 11 37662489 37663409 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380738 S 1 1 0 "" NA18507 esv269750 11 37662836 37663103 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575820,essv2540744,essv2571660,essv2546618,essv2521082,essv2526283,essv2542387,essv2536669,essv2522888,essv2544073,essv2570876,essv2556780,essv2568283,essv2545370,essv2523140,essv2531839,essv2577475,essv2570668,essv2548296,essv2521719,essv2550690,essv2525261,essv2550277,essv2535447,essv2553926,essv2544250,essv2520461,essv2547572,essv2558422,essv2564740,essv2577736,essv2553616,essv2559602,essv2565232,essv2576401,essv2520144,essv2554822,essv2530888,essv2561971,essv2537219,essv2528297,essv2546913,essv2521010,essv2552686,essv2551796,essv2562716,essv2569246,essv2578520,essv2549981,essv2539022,essv2527316,essv2561582,essv2544952,essv2523939,essv2552842,essv2541299,essv2538391,essv2540659,essv2524737,essv2565078,essv2534819,essv2561205,essv2539637,essv2549471,essv2519582,essv2560138,essv2522090,essv2566157,essv2531252,essv2532895,essv2567824,essv2528756,essv2541844,essv2570066,essv2563763,essv2553467,essv2572392,essv2559297,essv2542038,essv2550987,essv2543699,essv2556357,essv2527811,essv2562389,essv2578455,essv2572928,essv2555214,essv2533633,essv2555727,essv2567277,essv2566437,essv2530172,essv2573814,essv2527629,essv2555900,essv2534346,essv2522373,essv2531615,essv2573556,essv2543226,essv2525791,essv2526954,essv2529707,essv2575588,essv2575021,essv2538686,essv2526679,essv2560677,essv2524277,essv2560812,essv2560428,essv2549938,essv2571433,essv2546124,essv2551431,essv2536309,essv2537901,essv2548697,essv2533103,essv2554374,essv2547942,essv2525026,essv2563429,essv2558067 M 157 124 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18502,NA18504,NA18507,NA18508,NA18510,NA18511,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19190,NA19225,NA19238,NA19239,NA19257 esv272871 11 37662840 37663103 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581713,essv2582298,essv2583135,essv2583946,essv2584504 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 esv1595685 11 37662871 37662871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832136 S 2 1 0 "" HuRef nsv897234 11 37705641 37814433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571120 S 6533 0 1 "" IS32607 esv270526 11 37716441 37716796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516295 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv1575947 11 37722352 37722352 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001540 S 2 1 0 "" HuRef esv1066946 11 37723121 37723121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735840 S 2 1 0 "" HuRef nsv526145 11 37723835 37814433 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702400 S 2026 1 0 "" nsv510249 11 37736377 37742377 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622007 S 4 0 1 "" NA10860 nsv516010 11 37746989 37788198 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655422,nssv658089,nssv658293,nssv665702 M 2026 4 0 "" nsv832124 11 37753739 37924311 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449123 S 95 1 0 "" nsv467797 11 37782466 37852240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542980 S 1557 0 1 "" 1780862042_A nsv467798 11 37846022 37907236 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542981 S 1557 0 1 "" 1780862358_A dgv1075n71 11 37878451 37959294 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897236,nsv897237,nsv897235 M 6533 0 3 "" IS31179,IS31330,IS31373 nsv469949 11 37898397 37953554 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546095 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 dgv1076n71 11 37903440 38046857 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897238,nsv897240,nsv897239 M 6533 0 4 "" IS30884,IS34680,IS34791,IS41870 nsv517227 11 37907236 37907498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684128,nssv654068,nssv664669 M 2026 0 3 "" nsv467799 11 37907236 37963224 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542982 S 1557 0 1 "" 1798860114_A esv1951233 11 37918429 37919150 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800561 S 1 0 1 "" NA18507 nsv38982 11 37918622 37918946 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57560 M 24 "" esv21894 11 37983460 37985968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19454 S 451 0 1 "" NA19190 esv2546042 11 38002051 38003534 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279669 S 1 0 1 "" NA18507 esv2100185 11 38002404 38003078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673176 S 1 0 1 "" NA18507 nsv897241 11 38049244 38296860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580121 S 6533 0 1 "" IS35229 esv2190190 11 38055981 38056687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522081 S 1 0 1 "" NA18507 esv6824 11 38056169 38056449 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29265 S 1 0 1 "" SJK nsv7738 11 38084131 38120403 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8898 S 9 0 1 "" NA12156 nsv520017 11 38087375 38103968 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697179 S 2026 1 0 "" nsv467806 11 38087375 38278782 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542984 S 1557 0 1 "" NINDS_103 nsv7739 11 38167296 38199038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5355 S 9 1 0 "" NA19129 dgv1077n71 11 38168504 38306184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897242,nsv897243,nsv897245 M 6533 0 4 "" IS39011,IS41971,MS10925,MS18422 dgv1078n71 11 38188336 38278782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897244,nsv897249,nsv897248 M 6533 0 5 "" IS30432,IS32607,IS35127,IS37730,MS14737 dgv1079n71 11 38188336 38398796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897246,nsv897263,nsv897260,nsv897262,nsv897261 M 6533 0 5 "" IS35572,IS39666,MS20710,MS21100,MS21717 dgv1080n71 11 38202461 38296860 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897247,nsv897253 M 6533 2 0 "" MS12003,MS23120 dgv138n27 11 38205782 38278782 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467833,nsv467846,nsv467811,nsv467810,nsv467809 M 1557 0 5 "" 1780854299_A,1780862470_A,1780862547_A,NINDS_222,NINDS_228 dgv1081n71 11 38205782 38296860 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897255,nsv897250 M 6533 5 20 "" IS30139,IS31041,IS31373,IS31812,IS33507,IS33832,IS34555,IS34748,IS35742,IS36244,IS36911,IS38231,IS40057,IS41224,MS10699,MS10727,MS10802,MS12266,MS17114,MS18847,MS19634,MS20872,MS21928,MS22104,MS23670 nsv467825 11 38205782 38296860 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542989 S 1557 0 1 "" 1782681169_A dgv1082n71 11 38205782 38301608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897258,nsv897256,nsv897254,nsv897251,nsv897259 M 6533 0 7 "" IS31205,IS31330,IS35100,IS37226,IS39861,IS40067,MS12827 nsv897252 11 38205782 38457295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541184 S 6533 0 1 "" MS15199 nsv514610 11 38206020 38246792 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627107 S 1414 0 0 "" nsv526282 11 38208761 38357792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702561 S 2026 0 1 "" nsv467847 11 38221290 38341414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542995 S 1557 0 1 "" NINDS_183 nsv897257 11 38222216 38278782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595933,nssv1536391 M 6533 0 2 "" IS40368,MS12751 esv259586 11 38225155 38225408 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393698,essv2394048,essv2394396 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259901 11 38225157 38225412 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395607,essv2397667,essv2399270,essv2396511,essv2399439,essv2400131,essv2395308,essv2395222,essv2396358,essv2395974,essv2397067,essv2400522,essv2394510 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18508,NA18517,NA18858,NA18861,NA18916,NA19108,NA19138,NA19238,NA19239,NA19240,NA19257 dgv139n27 11 38242077 38282959 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467857,nsv467856,nsv467855,nsv467851 M 1557 0 4 "" 1780854462_A,1780854525_A,1780862101_A,HGDP00023 nsv469950 11 38242077 38282959 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546096,nssv546100,nssv546097,nssv546099 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00645,HGDP01060,HGDP01214,HGDP01286 nsv469951 11 38242077 38296860 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546103,nssv546104,nssv546101,nssv546102 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356,HGDP01323,HGDP01357,HGDP01363 dgv1083n71 11 38245169 38301608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897265,nsv897264 M 6533 0 5 "" IS31187,IS31581,IS33839,IS34645,MS14353 dgv64n21 11 38249818 38278782 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526105,nsv525120 M 2026 0 2 "" nsv514611 11 38251456 38268496 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627109 S 1414 0 0 "" nsv897266 11 38253479 38357792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588822 S 6533 0 1 "" IS38254 nsv526510 11 38255185 38272160 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702820 S 2026 1 0 "" nsv897267 11 38255185 38363752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548084 S 6533 1 0 "" MS17693 nsv819733 11 38256587 38257720 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419182 S 2 1 0 "" AK1 nsv825838 11 38257085 38257676 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426006,nssv1428525 M 31 2 0 "" AK10,AK4 nsv821304 11 38257085 38257824 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420938 S 1 0 1 "" NA10851 esv26070 11 38257246 38257699 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14483 S 451 1 0 "" NA07037 nsv527564 11 38263161 38270829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704025 S 2026 0 1 "" nsv897268 11 38282959 38398796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558395,nssv1577803 M 6533 0 2 "" IS34572,MS23257 nsv832125 11 38318239 38489863 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449124 S 95 1 0 "" nsv467858 11 38334468 38341414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543001 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01228 esv1604573 11 38356730 38356730 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004076 S 2 1 0 "" HuRef nsv518072 11 38357792 38363752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695486 S 2026 0 1 "" nsv7740 11 38372957 38381250 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8899 S 9 0 1 "" NA12156 nsv7741 11 38375581 38409015 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1004 S 9 1 0 "" NA19240 nsv526941 11 38401344 38415508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703309 S 2026 0 1 "" essv13395 11 38401344 38417833 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18872 dgv362e1 11 38401344 38437928 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1251,essv13254 M 271 0 0 "" NA19201 dgv363e1 11 38410997 38424689 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8538,essv8016 M 271 0 0 "" NA18523,NA18871 esv22180 11 38413821 38420498 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14555 S 451 0 4 "" NA18511,NA18523,NA18916,NA19190 esv2422161 11 38414524 38419763 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016538,essv5100464,essv5079656,essv5076574,essv5031772,essv5028482,essv5078522,essv5024150,essv5073410,essv5029050,essv5063033,essv5107886,essv5026613,essv5133003,essv5060899,essv5051998,essv5069721,essv5094883,essv5083161,essv5008489,essv5100987,essv5099563,essv5119787,essv5126647,essv5034730,essv5159138,essv5084947 M 1184 0 27 "" NA18484,NA18486,NA18511,NA18871,NA18872,NA18874,NA18875,NA18916,NA18924,NA18925,NA19146,NA19148,NA19190,NA19198,NA19201,NA19238,NA19319,NA19327,NA19332,NA19375,NA19396,NA19397,NA19403,NA19430,NA19438,NA19445,NA19455 nsv442226 11 38414524 38419763 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514612 11 38414536 38419756 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628096 S 1414 0 1 "" nsv517589 11 38415104 38415508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685367,nssv685865,nssv669493,nssv662189,nssv656349,nssv685030,nssv677083,nssv685287,nssv677520,nssv667057,nssv691100,nssv686701,nssv661740,nssv680336,nssv652450,nssv657067 M 2026 0 16 "" nsv897269 11 38523000 38651386 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536219 S 6533 1 0 "" MS12648 nsv897270 11 38534362 38671135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580122 S 6533 0 1 "" IS35229 nsv514613 11 38548384 38550960 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627110 S 1414 0 0 "" nsv832127 11 38589418 38679110 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449126,nssv1449125 M 95 2 0 "" nsv897271 11 38605381 38671135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546192 S 6533 0 1 "" MS17114 nsv897272 11 38605381 38722095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598358 S 6533 0 1 "" IS41317 nsv523298 11 38664229 38676344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699038 S 2026 0 1 "" nsv526476 11 38671135 38676344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702782 S 2026 0 1 "" nsv7742 11 38735467 38770185 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3941 S 9 1 0 "" NA12878 esv2432967 11 38757065 38757956 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292423 S 1 1 0 "" NA18507 esv269168 11 38757619 38757951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557817,essv2565779,essv2575917,essv2540846,essv2571710,essv2546583,essv2521366,essv2525989,essv2542321,essv2536665,essv2523014,essv2544026,essv2570980,essv2556704,essv2568239,essv2545403,essv2523115,essv2531699,essv2577550,essv2570561,essv2548371,essv2521649,essv2576894,essv2550573,essv2525457,essv2550274,essv2535482,essv2554267,essv2552179,essv2520553,essv2547234,essv2529189,essv2558312,essv2564782,essv2577776,essv2553697,essv2559510,essv2565353,essv2576506,essv2519936,essv2564206,essv2554837,essv2530754,essv2561913,essv2537376,essv2528465,essv2546923,essv2520889,essv2557506,essv2556932,essv2552719,essv2551774,essv2532284,essv2562644,essv2569241,essv2550179,essv2558907,essv2536887,essv2539081,essv2569683,essv2527275,essv2561693,essv2544912,essv2563080,essv2523515,essv2552962,essv2541399,essv2538446,essv2542668,essv2540226,essv2524419,essv2565135,essv2534515,essv2561092,essv2539856,essv2549430,essv2519766,essv2559798,essv2522208,essv2566116,essv2531168,essv2532588,essv2567683,essv2528764,essv2567431,essv2541704,essv2569982,essv2553429,essv2535504,essv2572226,essv2559171,essv2566984,essv2542068,essv2551175,essv2568956,essv2543765,essv2556169,essv2528143,essv2539427,essv2533828,essv2578238,essv2573223,essv2555332,essv2533648,essv2555529,essv2567104,essv2566397,essv2573775,essv2557635,essv2555957,essv2534457,essv2531304,essv2573717,essv2543302,essv2577089,essv2572098,essv2526785,essv2529825,essv2575648,essv2575166,essv2538704,essv2560665,essv2574610,essv2530387,essv2572865,essv2568543,essv2560455,essv2549698,essv2571378,essv2546149,essv2574299,essv2551545,essv2536023,essv2537942,essv2549087,essv2533122,essv2554761,essv2547820,essv2524985,essv2563551 M 157 140 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19116,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274373 11 38757619 38757951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582129,essv2582714,essv2582867,essv2584055,essv2584498,essv2583475 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv897273 11 38781603 38917723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520418 S 6533 0 1 "" SP50843 nsv523676 11 38797635 38864923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699480 S 2026 0 1 "" nsv522970 11 38821406 38864923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698640 S 2026 0 1 "" nsv524302 11 38846707 38863746 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700203 S 2026 0 1 "" nsv467862 11 38846707 38965147 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543003 S 1557 0 1 "" 1780854196_A nsv520738 11 38859789 38864923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697583 S 2026 0 1 "" nsv818812 11 38859789 38864923 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416473,nssv1416474 M 112 1 1 "" NA18516,NA18517 nsv526586 11 38863746 38864923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702904 S 2026 0 1 "" dgv1084n71 11 38888736 39029545 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897276,nsv897274,nsv897275 M 6533 5 0 "" MS24461,MS25223,SP54455,SP56614,SP57716 nsv467863 11 38928526 39029545 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543004 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00822 nsv526541 11 38934208 38934847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702855 S 2026 0 1 "" nsv897277 11 38934847 39041997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530262 S 6533 0 1 "" MS10287 esv2562578 11 38957970 38958830 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231642 S 1 1 0 "" NA18507 esv1524927 11 38958345 38958345 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885151 S 2 1 0 "" HuRef esv2246532 11 38967129 38967578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981158 S 1 0 1 "" NA18507 esv1227073 11 38967315 38967315 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298815 S 2 1 0 "" HuRef esv1647918 11 38967318 38967384 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198750 S 2 0 1 "" HuRef esv269196 11 38973264 38973636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493169,essv2504048,essv2496399,essv2496254,essv2501140,essv2494825,essv2505277,essv2505718,essv2494116,essv2513387,essv2495727,essv2501396,essv2504687,essv2507032,essv2499111,essv2509433,essv2498929,essv2510408,essv2511994,essv2498221 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18510,NA18511,NA18516,NA18519,NA18853,NA18861,NA18871,NA18907,NA18916,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19172,NA19238,NA19240 esv274628 11 38973276 38973616 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579869,essv2580841,essv2579172,essv2579777 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv818813 11 38974855 38990293 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416475,nssv1416476 M 112 0 2 "" NA18515,NA18517 esv28951 11 38989082 38990413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12202 S 451 0 1 "" NA18517 nsv527683 11 38990131 38990293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704159 S 2026 0 1 "" nsv517903 11 38990293 39007468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695312 S 2026 0 1 "" nsv825839 11 39001681 39002128 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432292 S 31 1 0 "" AK20 nsv469952 11 39007468 39046986 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546105 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356 nsv897278 11 39021716 39238298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579642 S 6533 0 1 "" IS35145 nsv897279 11 39052014 39117295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515648 S 6533 0 1 "" SP56234 nsv897280 11 39073114 39117295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515407 S 6533 0 1 "" SP56185 esv2539590 11 39113322 39114352 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250371 S 1 1 0 "" NA18507 esv269467 11 39113766 39114091 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511762,essv2493242,essv2504218,essv2503048,essv2505822,essv2504645,essv2499206,essv2509555,essv2493868 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18504,NA18505,NA18507,NA18861,NA19099,NA19114,NA19129,NA19210 esv992380 11 39143571 39143571 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569728 S 3 1 0 "" HuRef esv1475372 11 39143628 39143628 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005770 S 2 1 0 "" HuRef esv27273 11 39182927 39184112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15644 S 451 0 1 "" NA18858 esv8070 11 39260292 39260342 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30511 S 1 1 0 "" SJK nsv38980 11 39326540 39327116 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57558 M 24 "" nsv7743 11 39339129 39384469 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6456 S 9 0 1 "" NA12156 esv2508851 11 39523783 39524821 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364402 S 1 1 0 "" NA18507 nsv897281 11 39634121 39723640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515781 S 6533 1 0 "" SP56267 nsv825840 11 39673267 39675463 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431525,nssv1423633,nssv1439125,nssv1437653 M 31 0 4 "" AK18,NA18949,NA18973,NA18999 esv23218 11 39698021 39744629 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14239 S 451 1 0 "" NA18511 esv2196662 11 39742305 39742741 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751710 S 1 0 1 "" NA18507 esv5308 11 39742395 39742614 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27749 S 1 0 1 Single Asian sample YH "" YH esv1513410 11 39742481 39742550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053474 S 2 0 1 "" HuRef esv2635076 11 39761028 39762292 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362698 S 1 0 1 "" NA18507 esv2308152 11 39761514 39762217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826780 S 1 0 1 "" NA18507 esv4484 11 39761637 39762109 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26925 S 1 0 1 Single Asian sample YH "" YH nsv39333 11 39761691 39762025 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57911 M 24 "" esv9117 11 39761700 39762022 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31558 S 1 0 1 "" SJK esv1035088 11 39761703 39762038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009047 S 2 0 1 "" HuRef nsv528792 11 39779484 39780443 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705463 S 2026 0 1 "" nsv527662 11 39779484 39786442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704134 S 2026 0 1 "" nsv897282 11 39823314 39909806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581414 S 6533 0 1 "" IS35572 nsv518169 11 39886205 39888694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695590 S 2026 0 1 "" nsv518117 11 39886205 39904380 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695533 S 2026 0 1 "" nsv825841 11 39992947 39998550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429107 S 31 0 1 "" NA18547 nsv897283 11 39997866 40048945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536220 S 6533 1 0 "" MS12648 dgv65n21 11 40027599 40228018 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524741,nsv528205 M 2026 2 0 LRRC4C nsv527603 11 40102200 40106260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704065 S 2026 0 1 LRRC4C nsv39488 11 40196740 40196820 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58066 M 24 LRRC4C nsv7744 11 40215191 40259577 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4625 S 9 0 1 LRRC4C NA19129 nsv508625 11 40217126 40225261 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622448 S 4 0 1 LRRC4C NA18994 nsv507590 11 40218487 40224487 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619043 S 4 1 0 LRRC4C NA10860 nsv467865 11 40224673 40254886 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543005 S 1557 0 1 LRRC4C NINDS_94 esv2488139 11 40289716 40296567 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377897 S 1 0 1 "" NA18507 esv2527036 11 40290337 40296015 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229701 S 1 0 1 "" NA18507 esv2420435 11 40290769 40295645 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983806 S 1 0 1 "" NA18507 esv27841 11 40290985 40295414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9855 S 451 0 1 "" NA18916 nsv510250 11 40409921 40415921 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623893,nssv618341 M 4 0 2 "" CHM,NA18994 nsv467866 11 40447808 40472369 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543006 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00151 esv272869 11 40450555 40450894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581560 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1216399 11 40450594 40450594 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780664 S 2 1 0 "" HuRef nsv526365 11 40466108 40486821 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702659 S 2026 0 1 "" nsv832128 11 40510250 40642314 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449129,nssv1449130,nssv1449127 M 95 1 2 "" nsv897284 11 40563408 41774842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584630 S 6533 0 1 "" IS37098 esv2751023 11 40570563 40739627 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989218,essv6981051,essv6981052,essv6987901 M 771 0 1 "" BEC_345 esv21594 11 40638918 40642007 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21204,esv11628 M 451 7 0 "" NA06985,NA11993,NA12044,NA12828,NA18502,NA19129,NA19257 esv988637 11 40643442 40643492 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573307 S 3 0 1 "" HuRef esv1344994 11 40643443 40643494 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166263 S 2 0 1 "" HuRef nsv39060 11 40643446 40643496 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57638 M 24 "" nsv520942 11 40721344 40729192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684709,nssv678118 M 2026 0 2 "" dgv1085n71 11 40721344 40903026 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897286,nsv897285 M 6533 2 0 "" SP50827,SP56993 nsv818814 11 40739867 40747200 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417454 S 112 0 1 "" NA18953 esv2621057 11 40753879 40754905 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257736 S 1 1 0 "" NA18507 esv270036 11 40754087 40754398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501120,essv2501520,essv2504730,essv2506862,essv2510956,essv2498680,essv2501885,essv2498071,essv2502185 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA19093,NA19099,NA19102,NA19116,NA19138,NA19239,NA19240,NA19257 esv272801 11 40754115 40754422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584509,essv2583820 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv897287 11 40788274 40875210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583966 S 6533 0 1 "" IS36752 nsv7746 11 40812713 40830525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1005 S 9 1 0 "" NA19240 nsv7747 11 40832801 40867391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2862 S 9 1 0 "" NA18555 esv2087348 11 40838362 40838759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934229 S 1 0 1 "" NA18507 dgv364e1 11 40879434 41039419 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10725,esv174 M 271 0 0 "" NA18523 nsv897288 11 40937596 40996086 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536221 S 6533 1 0 "" MS12648 esv2533975 11 40962988 40964602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345600 S 1 0 1 "" NA18507 esv2119738 11 40963388 40964108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686775 S 1 0 1 "" NA18507 esv4634 11 40963545 40963968 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27075 S 1 0 1 Single Asian sample YH "" YH esv997366 11 40963602 40963923 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585984 S 3 0 1 "" HuRef esv8984 11 40963607 40963921 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31425 S 1 0 1 "" SJK esv1589619 11 40963608 40963930 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248022 S 2 0 1 "" HuRef nsv8810 11 40984262 40986874 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19686 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10863 nsv897289 11 41008596 41050885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569100 S 6533 0 1 "" IS31419 esv5191 11 41052914 41053358 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27632 S 1 0 1 Single Asian sample YH "" YH esv2315564 11 41052957 41053436 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522860 S 1 0 1 "" NA18507 esv1000710 11 41053140 41053261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566677 S 3 0 1 "" HuRef nsv38933 11 41053141 41053262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57511 M 24 "" essv7516 11 41075935 41157340 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18532 dgv365e1 11 41075935 41290487 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6125,esv760 M 271 0 0 "" NA18532 nsv832129 11 41145833 41340204 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449131 S 95 1 0 "" nsv523225 11 41157340 41385931 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698948 S 2026 1 0 "" nsv8811 11 41213437 41218069 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23555 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv897290 11 41246340 41441266 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536222 S 6533 1 0 "" MS12648 nsv832130 11 41263044 41430768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449132 S 95 1 0 "" esv1949037 11 41264567 41265003 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533659 S 1 0 1 "" NA18507 esv1007997 11 41264743 41264820 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568985 S 3 0 1 "" HuRef nsv520201 11 41266550 41280989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697277 S 2026 0 1 "" esv272490 11 41271102 41271314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583944,essv2583725 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv523070 11 41273564 41280989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698758 S 2026 0 1 "" esv1051262 11 41282761 41282810 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088067 S 2 0 1 "" HuRef esv22215 11 41293909 41303496 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15688 S 451 1 0 "" NA18523 nsv514614 11 41295816 41303480 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628097 S 1414 1 0 "" nsv442227 11 41295844 41303860 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv39572 11 41466920 41466920 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58150 M 24 "" esv2653783 11 41486456 41487446 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198838 S 1 1 0 "" NA18507 esv272985 11 41486784 41487108 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580412 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv270655 11 41486790 41487100 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557799,essv2542570,essv2536467,essv2570973,essv2568085,essv2531758,essv2570751,essv2550392,essv2535299,essv2529277,essv2553771,essv2564169,essv2555165,essv2520925,essv2556946,essv2552590,essv2532240,essv2562630,essv2569286,essv2550055,essv2558813,essv2537058,essv2538868,essv2561710,essv2551070,essv2568872,essv2543716,essv2527865,essv2562474,essv2539452,essv2533887,essv2529752,essv2575564,essv2575170,essv2526522,essv2560934,essv2574547,essv2572895,essv2568542,essv2560410,essv2549642,essv2571310,essv2574444,essv2524920,essv2563228 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA10851,NA11919,NA11920,NA11993,NA11995,NA12006,NA12044,NA12234,NA12249,NA12749,NA12763,NA12828,NA12872,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18523,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19102,NA19114,NA19137,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19240 nsv832131 11 41589740 41753621 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449134,nssv1449133,nssv1449136,nssv1449135 M 95 2 2 "" nsv819905 11 41770042 41775574 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419715 S 2 0 1 "" AK1 nsv512219 11 41773994 41775667 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624789 S 1 0 1 "" 1 nsv825843 11 41774591 41775306 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422014 S 31 0 1 "" NA18997 dgv208n67 11 41774591 41775711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825844,nsv825845 M 31 0 25 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18999 esv2367012 11 41774634 41775767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754932 S 1 0 1 "" NA18507 esv2426605 11 41774636 41776273 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275351 S 1 0 1 "" NA18507 esv5121 11 41774726 41775785 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27562 S 1 0 1 Single Asian sample YH "" YH esv2421441 11 41774742 41775435 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056864,essv5065335,essv5102881,essv5043854,essv5024406,essv5002568,essv5120127,essv5032765,essv5146759,essv5080283,essv5018567,essv5045077,essv5077264,essv5157094,essv5045439,essv5058784,essv5138154,essv5137839,essv5041462,essv5160275,essv5149282,essv5130128,essv5051132,essv5027990,essv5055870,essv5068838,essv5143261,essv5010069,essv5003197,essv5151679,essv5026030,essv5002351,essv5138706,essv5020587,essv5007324,essv5106114,essv5142337,essv5108683,essv5160620,essv5104876,essv5104843,essv5119194,essv5100156,essv5003494,essv5027465,essv5159575,essv5148761,essv5091291,essv5151419,essv5071951,essv5072712,essv5110713,essv5089934,essv5037534,essv5119840,essv5132849,essv5075321,essv5060890,essv5053572,essv5095682,essv5110964,essv5124573,essv5156615,essv5102991,essv5129193,essv5159076,essv5072309,essv5082305,essv5042103,essv5102973,essv5075150,essv5096845,essv5109066,essv5004914,essv5097595,essv5078306,essv5145975,essv5100792,essv5129120,essv5011972,essv5150488,essv5096988,essv5089382,essv5150157,essv5068229,essv5160732,essv5064015,essv5085027,essv5102034,essv5088460,essv5097681,essv5007398,essv5058560,essv5098518,essv5079663,essv5085456,essv5006396,essv5101767,essv5132633,essv5156789,essv5112494,essv5015378,essv5118734,essv5022170,essv5077795,essv5119737,essv5154651,essv5115696,essv5049722,essv5029236,essv5039627,essv5022494,essv5139702,essv5075431,essv5023860,essv5103636,essv5068892,essv5020192,essv5094103,essv5020709,essv5055770,essv5085070,essv5155970,essv5036956,essv5129191,essv5073580,essv5097640,essv5100454,essv5157107,essv5075043,essv5122464,essv5146873,essv5148921,essv5113823,essv5040365,essv5148334,essv5032921,essv5006284,essv5097749,essv5005798,essv5109519,essv5103330,essv5031217,essv5062453,essv5064141,essv5090742,essv5029441,essv5020652,essv5040499,essv5016938,essv5055250,essv5010621,essv5015097,essv5047259,essv5059065,essv5122112,essv5031906,essv5108824,essv5144915,essv5152875,essv5087110,essv5106425,essv5122320,essv5135629,essv5015368,essv5065478,essv5026094,essv5088369,essv5011953,essv5094029,essv5085673,essv5062718,essv5077121,essv5060248,essv5144809,essv5009747,essv5093476,essv5025571,essv5068130,essv5033809,essv5149259,essv5095125,essv5073016,essv5010173,essv5014660,essv5029156,essv5074021,essv5140885,essv5008082,essv5121298,essv5040693,essv5151543,essv5116968,essv5100353,essv5102809,essv5104867,essv5012128,essv5089254,essv5113926,essv5148820,essv5157518,essv5042281,essv5156347,essv5103456,essv5042881,essv5053344,essv5077333,essv5063445,essv5072944,essv5003894,essv5009990,essv5040617,essv5144935,essv5097576,essv5128723,essv5025367,essv5083022,essv5011403,essv5058174,essv5156545,essv5036321,essv5065342,essv5091812,essv5127985,essv5044836,essv5109096,essv5068818,essv5126235,essv5066381,essv5004617,essv5068249,essv5117720,essv5019599,essv5115067,essv5002483,essv5033628,essv5045449,essv5104858,essv5068858,essv5044341,essv5040682,essv5007730,essv5041337,essv5140308,essv5008543,essv5082430,essv5035829,essv5039279,essv5082839,essv5080772,essv5039181,essv5072682,essv5012531,essv5124732,essv5031871,essv5144177,essv5124070,essv5096003,essv5136450,essv5047198,essv5058173,essv5056200,essv5010619,essv5035559,essv5003029,essv5150061,essv5097766,essv5141416,essv5143005,essv5090509,essv5041167,essv5149685,essv5052486,essv5138248,essv5054549,essv5025378,essv5071505,essv5127187,essv5022462,essv5075524,essv5084751,essv5042487,essv5054830,essv5062428,essv5001968,essv5129302,essv5064335,essv5003126,essv5053744,essv5113947,essv5079680,essv5138912,essv5011180,essv5016629,essv5030834,essv5055198,essv5017573,essv5039446,essv5014317,essv5093193,essv5017823,essv5005992,essv5085146,essv5153043,essv5151836,essv5103514,essv5082628,essv5032258,essv5010275,essv5017359,essv5090835,essv5104378,essv5158791,essv5106935,essv5039824,essv5075982,essv5137659,essv5130147,essv5111584,essv5019653,essv5040247,essv5057185,essv5121616,essv5088626,essv5012034,essv5089210,essv5055877,essv5157650,essv5146522,essv5155066,essv5113537,essv5024214,essv5026775,essv5025615,essv5092258,essv5148784,essv5113564,essv5026014,essv5111626,essv5114432,essv5003190,essv5029421,essv5084907,essv5064831,essv5089325,essv5039487,essv5143273,essv5085260,essv5156351,essv5054213,essv5128241,essv5098319,essv5091683,essv5066159,essv5041464,essv5030577,essv5133099,essv5131180,essv5145275,essv5020426,essv5030868,essv5088442,essv5027055,essv5136329,essv5120869,essv5097853,essv5128533,essv5098156,essv5116424,essv5064669,essv5097290,essv5142663,essv5025053,essv5050234,essv5115465,essv5138617,essv5127055,essv5118754,essv5083128,essv5004502,essv5118990,essv5127235,essv5135121,essv5014054,essv5011400,essv5057149,essv5119404,essv5099320,essv5156329,essv5064168,essv5088015,essv5144663,essv5067392,essv5136735,essv5091772,essv5046624,essv5140071,essv5146827,essv5006342,essv5021814,essv5119684,essv5115892,essv5104202,essv5061153,essv5149021,essv5033546,essv5075620,essv5022497,essv5086804,essv5147030,essv5003787,essv5079983,essv5130494,essv5004068,essv5028582,essv5032992,essv5024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M 1184 0 761 "" NA06984,NA06985,NA06989,NA06991,NA06993,NA06997,NA07022,NA07037,NA07045,NA07055,NA07056,NA07345,NA07347,NA07348,NA07357,NA07435,NA10831,NA10838,NA10840,NA10845,NA10846,NA10847,NA10852,NA10854,NA10856,NA10859,NA10863,NA10865,NA11829,NA11830,NA11840,NA11843,NA11881,NA11882,NA11891,NA11918,NA11920,NA11930,NA11931,NA12003,NA12005,NA12006,NA12043,NA12044,NA12057,NA12145,NA12155,NA12156,NA12239,NA12264,NA12273,NA12286,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12376,NA12399,NA12400,NA12546,NA12740,NA12748,NA12750,NA12751,NA12753,NA12762,NA12763,NA12766,NA12776,NA12802,NA12812,NA12814,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12843,NA12864,NA12873,NA12877,NA12878,NA12890,NA12892,NA17962,NA17965,NA17966,NA17967,NA17969,NA17970,NA17972,NA17975,NA17977,NA17979,NA17980,NA17982,NA17983,NA17987,NA17988,NA17993,NA17998,NA17999,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18129,NA18131,NA18132,NA18133,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18158,NA18160,NA18161,NA18162,NA18166,NA18489,NA18497,NA18498,NA18499,NA18500,NA18505,NA18507,NA18508,NA18517,NA18520,NA18526,NA18529,NA18532,NA18534,NA18536,NA18542,NA18543,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18594,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18617,NA18618,NA18619,NA18621,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18639,NA18641,NA18642,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18740,NA18748,NA18749,NA18853,NA18855,NA18858,NA18859,NA18860,NA18862,NA18863,NA18871,NA18872,NA18873,NA18875,NA18909,NA18910,NA18911,NA18913,NA18914,NA18923,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18949,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18960,NA18961,NA18962,NA18963,NA18964,NA18966,NA18967,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19005,NA19007,NA19009,NA19010,NA19028,NA19031,NA19035,NA19046,NA19055,NA19056,NA19058,NA19059,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19083,NA19084,NA19085,NA19086,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19108,NA19114,NA19115,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19138,NA19140,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19150,NA19152,NA19153,NA19154,NA19159,NA19161,NA19172,NA19176,NA19178,NA19182,NA19184,NA19186,NA19190,NA19191,NA19193,NA19197,NA19199,NA19200,NA19204,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19224,NA19225,NA19236,NA19237,NA19238,NA19247,NA19248,NA19249,NA19257,NA19313,NA19318,NA19324,NA19327,NA19328,NA19332,NA19334,NA19347,NA19352,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19390,NA19394,NA19398,NA19399,NA19404,NA19428,NA19429,NA19430,NA19435,NA19436,NA19437,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19466,NA19469,NA19470,NA19471,NA19472,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19657,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19676,NA19677,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19702,NA19703,NA19705,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19796,NA19818,NA19819,NA19900,NA19904,NA19908,NA19909,NA19914,NA19915,NA19917,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20276,NA20277,NA20279,NA20281,NA20282,NA20291,NA20292,NA20294,NA20295,NA20300,NA20317,NA20319,NA20322,NA20340,NA20341,NA20342,NA20343,NA20348,NA20356,NA20357,NA20358,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20510,NA20512,NA20516,NA20517,NA20518,NA20519,NA20520,NA20522,NA20524,NA20527,NA20528,NA20530,NA20534,NA20535,NA20538,NA20539,NA20541,NA20542,NA20544,NA20582,NA20588,NA20752,NA20755,NA20756,NA20758,NA20761,NA20765,NA20766,NA20769,NA20770,NA20771,NA20773,NA20774,NA20775,NA20778,NA20790,NA20792,NA20795,NA20799,NA20800,NA20801,NA20802,NA20803,NA20807,NA20808,NA20811,NA20816,NA20818,NA20828,NA20845,NA20847,NA20849,NA20850,NA20852,NA20853,NA20854,NA20856,NA20859,NA20861,NA20862,NA20866,NA20871,NA20872,NA20873,NA20874,NA20875,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20887,NA20888,NA20890,NA20891,NA20895,NA20896,NA20897,NA20899,NA20900,NA20901,NA20903,NA20904,NA20907,NA20908,NA20910,NA20911,NA21086,NA21088,NA21089,NA21091,NA21097,NA21098,NA21099,NA21100,NA21102,NA21106,NA21107,NA21108,NA21112,NA21116,NA21118,NA21123,NA21141,NA21143,NA21144,NA21295,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21336,NA21344,NA21352,NA21355,NA21356,NA21359,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21367,NA21371,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21401,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21421,NA21424,NA21425,NA21434,NA21435,NA21438,NA21439,NA21440,NA21447,NA21451,NA21453,NA21454,NA21455,NA21457,NA21475,NA21477,NA21485,NA21488,NA21510,NA21517,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21573,NA21575,NA21576,NA21577,NA21580,NA21582,NA21583,NA21596,NA21597,NA21599,NA21600,NA21601,NA21615,NA21617,NA21620,NA21635,NA21636,NA21647,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21722,NA21723,NA21733,NA21739,NA21784,NA21825,NA21826 esv7278 11 41774778 41775631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29719 S 1 0 1 "" SJK esv29380 11 41774815 41775603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9994 S 451 0 21 "" NA07037,NA12004,NA12006,NA12044,NA12239,NA12414,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18907,NA19099,NA19108,NA19114,NA19190,NA19225,NA19257 dgv1086n71 11 41775435 41871512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897293,nsv897292,nsv897291 M 6533 0 4 "" IS36219,IS36981,IS38993,MS22104 esv2265810 11 41778674 41779372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892824 S 1 0 1 "" NA18507 esv3988 11 41778768 41779309 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26429 S 1 0 1 Single Asian sample YH "" YH esv9722 11 41778873 41779195 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32163 S 1 0 1 "" SJK esv999292 11 41786944 41789481 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564267 S 3 1 0 "" HuRef esv2597822 11 41788253 41788420 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205748 S 1 1 0 "" NA18507 esv272439 11 41788353 41789171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580767,essv2579431 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267906 11 41788354 41789112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575985,essv2546329,essv2525886,essv2536589,essv2522892,essv2545478,essv2523382,essv2531841,essv2577202,essv2570363,essv2550535,essv2525388,essv2544458,essv2547343,essv2558278,essv2564602,essv2553631,essv2559753,essv2576488,essv2530844,essv2537335,essv2546994,essv2539995,essv2520969,essv2557555,essv2532337,essv2569837,essv2544940,essv2562939,essv2553025,essv2540332,essv2524538,essv2564968,essv2534959,essv2539640,essv2549465,essv2519852,essv2522026,essv2531057,essv2532850,essv2567983,essv2567478,essv2570161,essv2563657,essv2553166,essv2535886,essv2572415,essv2559324,essv2566907,essv2556146,essv2527867,essv2562499,essv2578355,essv2533661,essv2555652,essv2567018,essv2573761,essv2527623,essv2555826,essv2522511,essv2531514,essv2573623,essv2571847,essv2525821,essv2538762,essv2523978,essv2574701,essv2568512,essv2545135,essv2560200,essv2571094,essv2551364,essv2549042,essv2525076,essv2563346 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10847,NA11830,NA11881,NA11918,NA11920,NA11931,NA12003,NA12004,NA12006,NA12043,NA12044,NA12155,NA12156,NA12414,NA12717,NA12750,NA12751,NA12763,NA12776,NA12814,NA12873,NA12878,NA12892,NA18489,NA18498,NA18499,NA18505,NA18520,NA18526,NA18532,NA18542,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18577,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18871,NA18907,NA18909,NA18940,NA18944,NA18945,NA18947,NA18951,NA18952,NA18956,NA18960,NA18961,NA18964,NA18973,NA18980,NA19108,NA19129,NA19138,NA19147,NA19172,NA19190,NA19238,NA19257 esv27249 11 41903074 41904532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9960 S 451 0 1 "" NA18508 nsv39593 11 41946636 41946636 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58171 M 24 "" esv989979 11 41946657 41946657 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573888 S 3 1 0 "" HuRef esv1662489 11 41946681 41946681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293127 S 2 1 0 "" HuRef esv271495 11 42012460 42012723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521214,essv2544204,essv2570884,essv2547524,essv2565545,essv2520160,essv2564087,essv2532096,essv2578639,essv2570304,essv2543759,essv2563464 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11894,NA11992,NA11993,NA12717,NA12812,NA12815,NA12828,NA18505,NA18510,NA18593,NA18870 esv2187067 11 42034165 42034613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793279 S 1 0 1 "" NA18507 nsv832132 11 42056984 42258565 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449137 S 95 0 1 LOC100507205 nsv897294 11 42076918 42213668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553762,nssv1575464,nssv1531328 M 6533 0 3 LOC100507205 IS33747,MS10393,MS20286 nsv7748 11 42079111 42124106 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8900 S 9 0 1 "" NA12156 nsv518073 11 42081025 42091145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695487 S 2026 0 1 "" nsv525962 11 42081025 42095879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702173 S 2026 0 1 "" nsv528648 11 42081025 42099011 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705281 S 2026 1 0 "" nsv519751 11 42081025 42203294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697031 S 2026 0 1 LOC100507205 nsv518346 11 42091145 42095879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695774 S 2026 0 1 "" nsv897295 11 42099011 42213668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536223 S 6533 1 0 LOC100507205 MS12648 esv6068 11 42112736 42113059 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28509 S 1 0 1 "" SJK nsv7749 11 42183725 42207183 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9269 S 9 1 0 LOC100507205 NA18517 esv9187 11 42196484 42198494 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31628 S 1 0 1 LOC100507205 SJK nsv897296 11 42326216 42371142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536224 S 6533 1 0 "" MS12648 esv274187 11 42333165 42333641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580558,essv2579550 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv897297 11 42385965 42405188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584631 S 6533 0 1 "" IS37098 dgv1087n71 11 42399189 42479942 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897299,nsv897298 M 6533 2 0 "" SP55265,SP57037 esv2432513 11 42420016 42421573 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336988 S 1 0 1 "" NA18507 esv2025213 11 42420497 42421191 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888462 S 1 0 1 "" NA18507 esv2762 11 42420623 42421138 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25203 S 1 0 1 Single Asian sample YH "" YH esv5750 11 42420672 42420980 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28191 S 1 0 1 "" SJK esv991095 11 42420675 42420985 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584184 S 3 0 1 "" HuRef nsv38868 11 42420675 42420985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57446 M 24 "" esv1535331 11 42420682 42420993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067052 S 2 0 1 "" HuRef nsv897300 11 42479942 42619933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555425 S 6533 0 1 "" MS21325 nsv832133 11 42591154 42798198 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449138 S 95 0 1 "" esv271048 11 42609611 42609876 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503313,essv2497312,essv2506376,essv2500693,essv2494409,essv2495924,essv2500758 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18545,NA18566,NA18571,NA18572,NA18961,NA18973 esv2547063 11 42620061 42621063 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293704 S 1 1 0 "" NA18507 esv267560 11 42620523 42620860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557949,essv2575994,essv2571669,essv2570840,essv2535104,essv2552000,essv2520481,essv2529316,essv2520201,essv2562731,essv2569412,essv2544784,essv2563074,essv2540422,essv2564885,essv2534522,essv2549351,essv2519736,essv2560086,essv2567657,essv2529037,essv2541476,essv2570207,essv2563668,essv2553113,essv2535609,essv2559264,essv2555299,essv2533434,essv2573802,essv2527509,essv2557595,essv2555975,essv2534275,essv2577183,essv2572109,essv2525823,essv2575604,essv2560271,essv2549095 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11830,NA11840,NA11993,NA12249,NA12489,NA12716,NA12749,NA12815,NA18507,NA18508,NA18526,NA18532,NA18552,NA18558,NA18561,NA18564,NA18566,NA18570,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18943,NA18944,NA18951,NA18952,NA18953,NA18956,NA18959,NA18970,NA18973,NA18980,NA19099,NA19190 nsv825846 11 42677298 42678158 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434975 S 31 0 1 "" NA18592 esv275490 11 42677420 42686054 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585695,essv2585122 M 1250 1 1 "" nsv832134 11 42681566 42841588 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449140,nssv1449141 M 95 2 0 "" nsv7750 11 42766367 42782795 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9943 S 9 0 1 "" NA18507 nsv511002 11 42767853 42839786 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622355 S 4 0 0 "" NA10860 nsv897301 11 42767942 42934015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519040 S 6533 0 1 "" SP80932 nsv819081 11 42768782 42775951 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419810 S 2 1 0 "" AK1 esv1006174 11 42769204 42779853 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565713 S 3 0 1 "" HuRef nsv442609 11 42769727 42774615 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv3e195 11 42769727 42774681 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array esv2421730,esv2421802 M 1184 0 429 "" NA06984,NA06989,NA06991,NA06993,NA07014,NA07022,NA07031,NA07045,NA07055,NA07345,NA07346,NA07348,NA07349,NA10835,NA10838,NA10840,NA10843,NA10846,NA10850,NA10854,NA10865,NA11830,NA11839,NA11840,NA11892,NA11920,NA11992,NA11994,NA11995,NA12003,NA12005,NA12043,NA12044,NA12056,NA12057,NA12145,NA12249,NA12264,NA12272,NA12275,NA12282,NA12286,NA12287,NA12340,NA12344,NA12347,NA12399,NA12546,NA12708,NA12718,NA12748,NA12749,NA12766,NA12775,NA12778,NA12818,NA12828,NA12829,NA12832,NA12842,NA17966,NA17967,NA17968,NA17974,NA17976,NA17980,NA17983,NA17987,NA17990,NA17993,NA17995,NA17996,NA18102,NA18105,NA18108,NA18118,NA18133,NA18135,NA18136,NA18138,NA18139,NA18144,NA18150,NA18154,NA18161,NA18162,NA18489,NA18497,NA18498,NA18500,NA18501,NA18507,NA18509,NA18511,NA18524,NA18534,NA18536,NA18542,NA18544,NA18545,NA18548,NA18550,NA18555,NA18563,NA18566,NA18571,NA18577,NA18592,NA18594,NA18599,NA18602,NA18603,NA18610,NA18612,NA18613,NA18618,NA18619,NA18632,NA18639,NA18640,NA18643,NA18647,NA18674,NA18689,NA18702,NA18747,NA18748,NA18867,NA18868,NA18869,NA18870,NA18872,NA18909,NA18916,NA18917,NA18930,NA18933,NA18935,NA18939,NA18942,NA18947,NA18960,NA18961,NA18962,NA18967,NA18968,NA18971,NA18973,NA18975,NA18979,NA18987,NA18993,NA18997,NA18998,NA19000,NA19002,NA19005,NA19009,NA19010,NA19031,NA19036,NA19057,NA19062,NA19065,NA19068,NA19070,NA19072,NA19074,NA19075,NA19078,NA19080,NA19081,NA19084,NA19085,NA19095,NA19102,NA19103,NA19116,NA19119,NA19120,NA19121,NA19123,NA19128,NA19129,NA19137,NA19141,NA19142,NA19146,NA19149,NA19152,NA19160,NA19161,NA19171,NA19173,NA19175,NA19178,NA19180,NA19189,NA19191,NA19197,NA19200,NA19201,NA19202,NA19207,NA19208,NA19213,NA19215,NA19307,NA19310,NA19314,NA19317,NA19327,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19397,NA19403,NA19428,NA19431,NA19438,NA19448,NA19449,NA19462,NA19466,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19654,NA19656,NA19660,NA19661,NA19662,NA19664,NA19665,NA19669,NA19671,NA19681,NA19683,NA19685,NA19686,NA19701,NA19708,NA19712,NA19719,NA19721,NA19722,NA19723,NA19724,NA19725,NA19747,NA19748,NA19749,NA19751,NA19756,NA19759,NA19760,NA19762,NA19763,NA19770,NA19834,NA19901,NA19902,NA19904,NA19914,NA19915,NA19921,NA20127,NA20128,NA20129,NA20276,NA20277,NA20281,NA20294,NA20295,NA20322,NA20334,NA20335,NA20336,NA20342,NA20343,NA20349,NA20350,NA20357,NA20358,NA20359,NA20360,NA20364,NA20502,NA20504,NA20509,NA20510,NA20518,NA20519,NA20521,NA20522,NA20525,NA20527,NA20528,NA20530,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20544,NA20586,NA20754,NA20756,NA20757,NA20759,NA20770,NA20771,NA20773,NA20775,NA20783,NA20786,NA20796,NA20799,NA20803,NA20804,NA20807,NA20810,NA20811,NA20816,NA20819,NA20826,NA20847,NA20849,NA20851,NA20853,NA20859,NA20861,NA20866,NA20871,NA20874,NA20875,NA20876,NA20879,NA20881,NA20883,NA20884,NA20889,NA20891,NA20892,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20909,NA20911,NA21086,NA21090,NA21092,NA21097,NA21099,NA21100,NA21102,NA21106,NA21107,NA21113,NA21119,NA21123,NA21141,NA21142,NA21143,NA21307,NA21308,NA21309,NA21336,NA21352,NA21357,NA21363,NA21368,NA21370,NA21378,NA21384,NA21388,NA21389,NA21400,NA21401,NA21415,NA21420,NA21421,NA21434,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21453,NA21455,NA21485,NA21487,NA21494,NA21509,NA21512,NA21517,NA21521,NA21522,NA21528,NA21529,NA21574,NA21576,NA21578,NA21587,NA21689,NA21693,NA21716,NA21739,NA21776 dgv209n67 11 42770673 42775199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825847,nsv825848,nsv825849 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820859 11 42770673 42775199 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420939 S 1 0 1 "" NA10851 esv23297 11 42770691 42775046 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13798 S 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv2574521 11 42770963 42777244 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164635 S 1 0 1 "" NA18507 nsv514616 11 42771016 42774664 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628098 S 1414 0 1 "" nsv825850 11 42774665 42775199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427708,nssv1429292,nssv1432295,nssv1435315,nssv1425203 M 31 0 5 "" AK12,AK2,AK20,AK8,NA18942 nsv832135 11 42779485 42963144 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449142 S 95 0 1 "" esv1584068 11 42793877 42793877 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823400 S 2 1 0 "" HuRef nsv507591 11 42814633 42820633 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620759,nssv617813,nssv622849 M 4 3 0 "" CHM,NA15510,NA18994 nsv522240 11 42908857 42929829 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694147 S 2026 1 0 "" esv24103 11 42924536 42932726 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20648,esv9850 M 451 7 0 "" NA06985,NA11894,NA11931,NA12006,NA12044,NA12414,NA12828 esv2421764 11 42925451 42929829 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5069515,essv5024353,essv5156182,essv5152005,essv5048065,essv5139356,essv5018802,essv5015026,essv5014586,essv5004151,essv5148363,essv5060441,essv5141755,essv5085486,essv5012327,essv5152288,essv5133193,essv5060986,essv5088998,essv5005319,essv5079742,essv5007375,essv5079913,essv5128336,essv5054007,essv5130221,essv5143293,essv5099100,essv5125922,essv5080512,essv5058942,essv5147502,essv5007528,essv5005037,essv5150836,essv5013271,essv5037986,essv5075889,essv5107682,essv5005491,essv5061616,essv5107314,essv5070651,essv5009438,essv5157012,essv5036587,essv5032562,essv5154735,essv5030133,essv5048981,essv5152349,essv5001971,essv5141460,essv5092205,essv5008106,essv5034005,essv5137504,essv5146540,essv5023446,essv5003546,essv5102604,essv5137674,essv5045811,essv5112748,essv5071260,essv5030954,essv5113260,essv5144956,essv5119960,essv5126058,essv5059057,essv5031014,essv5094812,essv5044775,essv5069519,essv5152253,essv5123229,essv5051868,essv5094007,essv5119826,essv5154909,essv5150113,essv5025982,essv5076371,essv5037133,essv5033936,essv5065720,essv5124379,essv5149291,essv5117353,essv5043051,essv5138847,essv5132400,essv5039295,essv5159557,essv5066784,essv5053079,essv5112819,essv5062052,essv5007580,essv5025988,essv5059650,essv5084898,essv5060689,essv5033774,essv5144179,essv5094415,essv5142828,essv5011903,essv5010110,essv5059790,essv5011154,essv5076973,essv5004262,essv5071993,essv5060233,essv5099846,essv5143765,essv5149352,essv5038007,essv5100489,essv5060940,essv5043864,essv5130035,essv5137868,essv5153654,essv5130898,essv5159536,essv5090023,essv5132112,essv5148150,essv5023312,essv5078293,essv5102926,essv5046523,essv5066863,essv5138582,essv5040305,essv5108468,essv5088313,essv5096663,essv5031389,essv5077500,essv5145188 M 1184 144 0 "" NA06985,NA06991,NA06994,NA07022,NA07347,NA07349,NA07357,NA10836,NA10839,NA10840,NA10845,NA10855,NA10859,NA10864,NA11832,NA11882,NA11894,NA11920,NA11931,NA12005,NA12006,NA12043,NA12044,NA12275,NA12283,NA12286,NA12340,NA12399,NA12707,NA12716,NA12740,NA12751,NA12753,NA12761,NA12763,NA12767,NA12775,NA12777,NA12801,NA12802,NA12812,NA12814,NA12815,NA12817,NA12828,NA12877,NA12890,NA12891,NA17997,NA18645,NA18913,NA18914,NA19028,NA19035,NA19109,NA19119,NA19147,NA19159,NA19161,NA19175,NA19185,NA19186,NA19197,NA19198,NA19199,NA19238,NA19309,NA19382,NA19404,NA19445,NA19457,NA19651,NA19652,NA19653,NA19675,NA19680,NA19684,NA19712,NA19723,NA19724,NA19746,NA19747,NA19759,NA19776,NA19835,NA19836,NA20276,NA20277,NA20282,NA20284,NA20301,NA20337,NA20349,NA20363,NA20506,NA20510,NA20529,NA20531,NA20534,NA20538,NA20544,NA20756,NA20769,NA20771,NA20772,NA20783,NA20785,NA20787,NA20790,NA20795,NA20801,NA20802,NA20804,NA20805,NA20813,NA20816,NA20818,NA20826,NA20845,NA20862,NA20885,NA20895,NA20901,NA21101,NA21115,NA21125,NA21405,NA21415,NA21421,NA21424,NA21425,NA21441,NA21442,NA21448,NA21476,NA21491,NA21522,NA21527,NA21528,NA21583,NA21587,NA21611,NA21632,NA21683 nsv521235 11 42925451 42929829 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688240,nssv687042 M 2026 2 0 "" nsv818815 11 42925451 42929829 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418014,nssv1418037,nssv1418091,nssv1417057,nssv1415986,nssv1418093,nssv1416862,nssv1418048,nssv1415985 M 112 9 0 "" NA06985,NA06991,NA06994,NA07357,NA10859,NA11882,NA12740,NA12751,NA19238 nsv442228 11 42926159 42927743 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514617 11 42926336 42927664 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628099 S 1414 0 0 "" nsv435925 11 42926817 42933481 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466649 S 2 0 1 "" NA15510 esv2509887 11 42937936 42938743 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166084 S 1 1 0 "" NA18507 esv1456366 11 42938054 42938054 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271744 S 2 1 0 "" HuRef esv2195695 11 42986087 42986464 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783949 S 1 0 1 "" NA18507 nsv7751 11 43008622 43042829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1006 S 9 1 0 "" NA19240 esv273570 11 43024465 43024550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581129 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv521880 11 43066630 43071758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694651 S 2026 0 1 "" nsv7752 11 43072587 43104052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10815 S 9 1 0 "" NA18956 esv2582611 11 43128013 43141498 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256047 S 1 0 1 "" NA18507 esv2502615 11 43145889 43149092 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345517 S 1 0 1 "" NA18507 esv269288 11 43147882 43148229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514667,essv2518710,essv2518601,essv2514471,essv2517838,essv2519075,essv2513985,essv2518358 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12045,NA12287,NA12874,NA12878,NA19141,NA19143,NA19240 esv273147 11 43147882 43148229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581383,essv2581045 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv272646 11 43271558 43271987 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580240,essv2580001,essv2580927 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv1639640 11 43289041 43289041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856718 S 2 1 0 "" HuRef esv1516837 11 43289050 43289154 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667127 S 2 0 1 "" HuRef esv270488 11 43313482 43313711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510121,essv2503183,essv2506777,essv2495414,essv2511230,essv2500196,essv2493407 M 157 7 0 Samples from several populations that are part of the HapMap project. API5 NA11829,NA11881,NA11918,NA11919,NA11931,NA12006,NA12763 nsv519819 11 43388622 43429683 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694348 S 2026 1 0 TTC17 nsv7753 11 43430795 43464494 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8901 S 9 1 0 TTC17 NA12156 dgv66n21 11 43516567 43538768 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524728,nsv522547 M 2026 0 2 MIR670 esv993080 11 43597309 43597372 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578597 S 3 0 1 "" HuRef esv1563070 11 43597309 43597373 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984696 S 2 0 1 "" HuRef nsv897302 11 43631506 43694006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500630 S 6533 0 1 HSD17B12 SP50125 nsv832136 11 43667546 43786170 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449147,nssv1449146,nssv1449145,nssv1449144,nssv1449143,nssv1449152,nssv1449151,nssv1449148,nssv1449153,nssv1449158,nssv1449157,nssv1449154,nssv1449155,nssv1449159,nssv1449156,nssv1449149 M 95 15 1 HSD17B12 nsv7754 11 43683794 43718337 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2863 S 9 1 0 HSD17B12 NA18555 nsv7755 11 43742454 43776532 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8902 S 9 1 0 HSD17B12 NA12156 nsv832138 11 43757106 43944580 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449160 S 95 1 0 ALKBH3,C11orf96,HSD17B12,LOC100507300,LOC729799 nsv528546 11 43759689 43770352 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705158 S 2026 0 1 HSD17B12 esv267920 11 43833993 43834338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518756,essv2514768,essv2515496,essv2517207,essv2518994 M 157 5 0 Samples from several populations that are part of the HapMap project. HSD17B12 NA12045,NA12234,NA12249,NA18970,NA19141 esv2482678 11 43847435 43849241 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365825 S 1 0 1 "" NA18507 esv2050169 11 43848225 43848938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746045 S 1 0 1 "" NA18507 esv3442 11 43848377 43848889 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25883 S 1 0 1 Single Asian sample YH "" YH esv1001363 11 43848413 43848748 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574616 S 3 0 1 "" HuRef esv6033 11 43848417 43848739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28474 S 1 0 1 "" SJK esv1053414 11 43848420 43848756 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342370 S 2 0 1 "" HuRef nsv39218 11 43848421 43848756 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57796 M 24 "" esv2616474 11 43865226 43866833 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293851 S 1 0 1 ALKBH3 NA18507 esv2028436 11 43866105 43866656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768404 S 1 0 1 ALKBH3 NA18507 esv6093 11 43866199 43866501 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28534 S 1 0 1 ALKBH3 SJK nsv467867 11 43875987 43906087 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543007 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALKBH3,LOC100507300,LOC729799 HGDP01303 esv272089 11 43891600 43891685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516311 S 157 1 0 Samples from several populations that are part of the HapMap project. ALKBH3,LOC100507300 NA12814 nsv524626 11 43960711 43977889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700588 S 2026 0 1 "" nsv301 11 43963232 43988590 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1007 S 9 1 0 "" NA19240 esv24004 11 43970731 43972547 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20570 S 451 2 0 "" NA11995,NA18907 nsv302 11 43973991 44019293 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8903 S 9 0 1 "" NA12156 nsv520765 11 43997850 44002927 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697598 S 2026 1 0 "" esv274919 11 44016384 44021312 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585317 S 1250 0 1 "" nsv510251 11 44022914 44028914 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622014,nssv621552,nssv623899 M 4 0 3 ACCSL NA10860,NA15510,NA18994 nsv832139 11 44041807 44255773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449162,nssv1449163 M 95 0 2 ACCS,ALX4,EXT2 nsv523327 11 44042263 44049873 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699071 S 2026 1 0 ACCS esv995967 11 44052875 44052875 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570471 S 3 1 0 ACCS HuRef esv29274 11 44070139 44071898 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16064 S 451 0 1 "" NA12239 dgv67n21 11 44229098 44255197 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526910,nsv517357 M 2026 0 14 ALX4 nsv897303 11 44236666 44255197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530719 S 6533 0 1 ALX4 MS10311 nsv897304 11 44236666 44268544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546782 S 6533 0 1 ALX4 MS17208 nsv897305 11 44240298 44252578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549823 S 6533 0 1 ALX4 MS18276 nsv897306 11 44253522 44621551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547411 S 6533 1 0 ALX4,CD82 MS17371 esv2076030 11 44357067 44357457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774187 S 1 0 1 "" NA18507 esv995647 11 44357206 44357279 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573485 S 3 0 1 "" HuRef esv1588543 11 44357269 44357343 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100078 S 2 0 1 "" HuRef nsv509403 11 44361325 44407835 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619298 S 4 1 0 "" NA10860 nsv818816 11 44378143 44405514 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417719 S 112 1 0 "" NA18999 nsv897307 11 44415659 44539441 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540335 S 6533 1 0 "" MS14805 esv997308 11 44423080 44423080 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577166 S 3 1 0 "" HuRef esv1463436 11 44423100 44423100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099722 S 2 1 0 "" HuRef nsv303 11 44476300 44510219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8904 S 9 1 0 "" NA12156 esv1766862 11 44479969 44480021 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973030 S 2 0 1 "" HuRef esv1755359 11 44528932 44528932 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738295 S 2 1 0 "" HuRef esv1354755 11 44528949 44528949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721054 S 2 1 0 "" HuRef nsv897308 11 44546417 44690081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567476 S 6533 0 1 CD82 IS31090 nsv525321 11 44553393 44558532 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701431 S 2026 1 0 CD82 nsv522766 11 44563908 44570247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698406 S 2026 0 1 CD82 nsv897309 11 44570247 44586625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540336 S 6533 1 0 CD82 MS14805 nsv513313 11 44641495 44643330 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625700 S 1 1 0 "" 1 nsv825851 11 44686530 44690202 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426010 S 31 0 1 "" AK4 esv997298 11 44688714 44692374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565371 S 3 0 1 "" HuRef esv2358765 11 44699569 44700002 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924668 S 1 0 1 "" NA18507 esv1577377 11 44699787 44699842 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131296 S 2 0 1 "" HuRef nsv832140 11 44759051 44925353 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449164 S 95 0 1 TP53I11,TSPAN18 esv28960 11 44775471 44776626 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20849 S 451 5 0 TSPAN18 NA18508,NA18907,NA19129,NA19190,NA19225 nsv304 11 44823984 44868878 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8905 S 9 0 1 TSPAN18 NA12156 nsv510252 11 44863021 44869021 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622017 S 4 0 1 TSPAN18 NA10860 nsv513314 11 45078759 45080565 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625701 S 1 1 0 PRDM11 1 esv1954118 11 45079723 45080582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517061 S 1 0 1 PRDM11 NA18507 esv1665387 11 45080417 45080417 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310258 S 2 1 0 PRDM11 HuRef nsv825852 11 45097962 45185156 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439128 S 31 1 0 PRDM11 NA18973 nsv825854 11 45123969 45125639 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426930 S 31 1 0 PRDM11 AK6 nsv825855 11 45124359 45125400 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431528 S 31 1 0 PRDM11 AK18 nsv523057 11 45131106 45138258 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698740 S 2026 0 1 PRDM11 nsv305 11 45215401 45218823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3943 S 9 1 0 SYT13 NA12878 esv271081 11 45271801 45271886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516426 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv825856 11 45276162 45276755 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424438 S 31 0 1 "" NA18582 esv2537828 11 45312697 45314317 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245407 S 1 0 1 "" NA18507 esv2254869 11 45312874 45313955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755419 S 1 0 1 "" NA18507 nsv467869 11 45345801 45371611 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543008 S 1557 0 1 "" 1780862563_A nsv306 11 45370620 45401007 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8906 S 9 0 1 "" NA12156 esv996050 11 45383057 45393209 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563582 S 3 0 1 "" HuRef nsv511486 11 45385957 45394950 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626103 S 1 0 1 "" 1 nsv512220 11 45386256 45388214 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624790 S 1 0 1 "" 1 dgv210n67 11 45386304 45388227 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825866,nsv825857 M 31 0 17 "" AK10,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18564,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18973 nsv821328 11 45386304 45388227 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420940 S 1 0 1 "" NA10851 dgv211n67 11 45386365 45387978 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825858,nsv825863,nsv825862,nsv825865 M 31 0 6 "" AK12,AK14,AK16,AK8,NA18566,NA18997 dgv212n67 11 45386415 45387581 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825859,nsv825861,nsv825860 M 31 0 6 "" AK2,AK4,NA18547,NA18552,NA18972,NA18999 esv1000526 11 45386424 45388190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569798 S 3 0 1 "" HuRef nsv819572 11 45386439 45388250 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419333 S 2 1 0 "" AK1 esv27737 11 45386459 45388164 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19107,esv18923,esv15048 M 451 16 11 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19225,NA19240,NA19257 nsv897310 11 45443617 45588529 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559355 S 6533 1 0 "" MS23886 dgv1088n71 11 45620144 45655710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897313,nsv897312,nsv897311 M 6533 0 6 CHST1 IS33504,IS35484,IS39417,MS10311,MS16153,MS17208 esv24804 11 45642271 45643979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19367 S 451 0 1 CHST1 NA18907 nsv897314 11 45772596 45921705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530721 S 6533 0 1 C11orf94,CRY2,GYLTL1B,MAPK8IP1,PEX16,PHF21A,SLC35C1 MS10311 nsv897315 11 45774213 45795502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509346 S 6533 0 1 SLC35C1 SP54782 nsv307 11 45791371 45826435 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3944 S 9 1 0 CRY2 NA12878 nsv516442 11 45856538 45939961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670466,nssv660449,nssv679890,nssv692112,nssv657130,nssv679215,nssv682694,nssv655354,nssv691218,nssv655057,nssv663772,nssv675721,nssv668447,nssv682952,nssv690191 M 2026 0 15 C11orf94,CRY2,GYLTL1B,MAPK8IP1,PEX16,PHF21A esv268491 11 45871361 45871569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504031,essv2509239,essv2495666,essv2501235,essv2506854,essv2501868 M 157 6 0 Samples from several populations that are part of the HapMap project. MAPK8IP1 NA18505,NA18909,NA18916,NA19093,NA19102,NA19239 esv272305 11 45871363 45871582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578955 S 7 1 0 Samples from several populations that are part of the HapMap project. MAPK8IP1 NA19239 nsv523952 11 45939961 45984857 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699800 S 2026 1 0 PHF21A nsv38731 11 45950033 45955262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57309 M 24 PHF21A nsv522527 11 45980759 45989680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705899 S 2026 0 1 PHF21A esv2511558 11 45992577 45994352 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383545 S 1 0 1 PHF21A NA18507 esv4928 11 45992723 45993210 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27369 S 1 0 1 Single Asian sample YH PHF21A YH esv8587 11 45992789 45993161 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31028 S 1 0 1 PHF21A SJK esv987535 11 46075650 46076093 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587088 S 3 0 1 PHF21A HuRef esv24317 11 46098645 46099234 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14981 S 451 1 0 PHF21A NA12044 nsv512221 11 46117421 46119135 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624791 S 1 0 1 "" 1 esv24233 11 46117604 46118980 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16657 S 451 0 1 "" NA12776 nsv511476 11 46117630 46126235 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626092 S 1 0 1 "" 1 nsv308 11 46198863 46244118 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8907 S 9 0 1 "" NA12156 nsv825867 11 46259760 46382189 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439131 S 31 1 0 AMBRA1,CHRM4,CREB3L1,DGKZ,MDK,MIR4688 NA18973 dgv1089n71 11 46306207 46374391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897317,nsv897316 M 6533 0 3 CHRM4,DGKZ,MDK,MIR4688 SP54043,SP54956,SP54988 nsv897318 11 46344796 46374391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507958 S 6533 0 1 CHRM4,DGKZ,MDK,MIR4688 SP54725 dgv1090n71 11 46353055 46374391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897319,nsv897320 M 6533 0 2 CHRM4,DGKZ,MDK,MIR4688 SP51109,SP55021 nsv309 11 46356254 46397079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8908 S 9 0 1 AMBRA1,CHRM4,DGKZ,MDK NA12156 nsv897321 11 46472478 46629920 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601237 S 6533 1 0 AMBRA1,ATG13,HARBI1 IS41991 esv993220 11 46589604 46606533 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563604 S 3 0 0 ATG13,HARBI1 HuRef nsv38662 11 46608858 46608988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57240 M 24 ATG13 nsv897322 11 46696324 46705492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515476 S 6533 1 0 F2 SP56200 nsv310 11 46868730 46902013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1933 S 9 1 0 LRP4 NA18555 nsv510253 11 46991641 46997641 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618342 S 4 0 1 C11orf49 CHM nsv312 11 47003823 47028973 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6457,nssv3945 M 9 0 2 C11orf49 NA12156,NA12878 nsv508627 11 47009235 47040583 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618708,nssv622459 M 4 0 2 C11orf49 NA10860,NA18994 esv33095 11 47010857 47021343 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101485,essv97506,essv101229,essv100703,essv98244,essv94698,essv94049,essv96965,essv93037,essv96620,essv97091,essv97999,essv100145,essv100422,essv98444 M 51 0 15 C11orf49 21603,21616,21618,21656,21772,21791,21802,21817,21863,22011,22075,22259,22286,22300,22352 esv998583 11 47013663 47022185 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564138 S 3 0 1 C11orf49 HuRef nsv512222 11 47013910 47020957 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624792 S 1 0 1 C11orf49 1 esv4508 11 47014132 47020485 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26949 S 1 0 1 Single Asian sample YH C11orf49 YH nsv498753 11 47014164 47020280 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586461 S 9 0 1 C11orf49 esv23070 11 47014463 47020023 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20339 S 451 35 0 C11orf49 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv821175 11 47014463 47020023 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420941 S 1 0 1 C11orf49 NA10851 nsv825868 11 47014463 47020205 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427710,nssv1428430,nssv1436902 M 31 0 3 C11orf49 AK8,NA18542,NA18968 nsv820057 11 47014646 47020466 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419737 S 2 1 0 C11orf49 AK1 esv990426 11 47018205 47020205 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587150 S 3 0 1 C11orf49 HuRef nsv825869 11 47018205 47020205 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430802,nssv1422823,nssv1428914,nssv1438344,nssv1433871,nssv1432298,nssv1440553,nssv1435317,nssv1428531 M 31 0 9 C11orf49 AK10,AK16,AK20,NA18526,NA18552,NA18564,NA18942,NA18947,NA18951 nsv514618 11 47018404 47020060 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628100 S 1414 0 1 C11orf49 esv2542584 11 47044124 47044559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268653 S 1 0 1 C11orf49 NA18507 nsv313 11 47072240 47106390 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8910 S 9 1 0 C11orf49 NA12156 nsv526628 11 47121682 47124830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702950 S 2026 0 1 C11orf49 nsv897323 11 47139502 47416882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585938 S 6533 0 1 ACP2,ARFGAP2,C11orf49,DDB2,MADD,MYBPC3,NR1H3,PACSIN3,PSMC3,RAPSN,SLC39A13,SPI1 IS37646 nsv897324 11 47150142 47168608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510844 S 6533 0 1 ARFGAP2,PACSIN3 SP54988 nsv825870 11 47288416 47289140 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422018 S 31 1 0 MADD NA18997 nsv832141 11 47289756 47477569 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449165 S 95 0 1 CELF1,MADD,MYBPC3,PSMC3,RAPSN,SLC39A13,SPI1 nsv509404 11 47313431 47349825 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623373 S 4 1 0 MYBPC3,SPI1 NA18994 nsv825871 11 47332596 47414113 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439132 S 31 1 0 PSMC3,SLC39A13,SPI1 NA18973 esv992404 11 47348448 47349453 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564807 S 3 1 0 SPI1 HuRef nsv513315 11 47349412 47349920 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625702 S 1 1 0 SPI1 1 esv275512 11 47349879 47352538 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586097 S 1250 0 1 SPI1 nsv897325 11 47368312 47557014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538833 S 6533 0 1 CELF1,KBTBD4,PSMC3,PTPMT1,RAPSN,SLC39A13 MS13777 esv2581410 11 47406835 47407324 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239390 S 1 1 0 "" NA18507 nsv513316 11 47407159 47407230 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625703 S 1 1 0 "" 1 nsv832142 11 47474531 47637886 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449168,nssv1449167,nssv1449166 M 95 0 3 AGBL2,C1QTNF4,CELF1,FAM180B,KBTBD4,MTCH2,NDUFS3,PTPMT1 nsv512223 11 47482235 47484671 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624793 S 1 0 1 CELF1 1 nsv314 11 47518140 47562832 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8911 S 9 0 1 CELF1,KBTBD4,NDUFS3,PTPMT1 NA12156 esv1232065 11 47519817 47519909 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141055 S 2 0 1 CELF1 HuRef nsv825872 11 47522001 47616906 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439133 S 31 1 0 C1QTNF4,CELF1,FAM180B,KBTBD4,MTCH2,NDUFS3,PTPMT1 NA18973 esv2622304 11 47535167 47535759 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163185 S 1 1 0 "" NA18507 nsv509405 11 47549166 47641232 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619312,nssv623376 M 4 2 0 AGBL2,C1QTNF4,FAM180B,KBTBD4,MTCH2,NDUFS3,PTPMT1 NA10860,NA18994 nsv825873 11 47565882 47573039 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433872 S 31 1 0 C1QTNF4,FAM180B NA18526 nsv469858 11 47604091 47793748 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649879 M 265 1 0 Samples from several populations that are part of the HapMap project. AGBL2,FNBP4,MTCH2,NUP160 nsv69 11 47609019 47623008 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv69 S 1 1 0 MTCH2 NA15510 nsv315 11 47609019 47638236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3946,nssv10891,nssv2864,nssv6458,nssv1008 M 9 5 0 AGBL2,MTCH2 NA12156,NA12878,NA15510,NA18555,NA19240 esv995881 11 47615300 47616408 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564702 S 3 1 0 MTCH2 HuRef esv998557 11 47616514 47619550 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563781 S 3 1 0 MTCH2 HuRef esv1465053 11 47616528 47616528 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022420 S 2 1 0 MTCH2 HuRef nsv832143 11 47657384 47840116 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449169 S 95 0 1 AGBL2,FNBP4,NUP160 nsv825874 11 47797653 47800027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437657 S 31 0 1 NUP160 NA18949 esv2584241 11 47843420 47845172 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213652 S 1 0 1 "" NA18507 esv2253409 11 47844049 47844851 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591026 S 1 0 1 "" NA18507 esv7051 11 47844130 47844789 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29492 S 1 0 1 "" SJK nsv316 11 47845449 47897449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3947,nssv10816,nssv1935 M 9 3 0 "" NA12878,NA18555,NA18956 nsv897326 11 47847910 47992050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500533 S 6533 1 0 PTPRJ SP50523 nsv509406 11 47848394 47873474 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621207,nssv623378,nssv619317 M 4 3 0 "" NA10860,NA15510,NA18994 esv996124 11 47870684 47871674 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565295 S 3 1 0 "" HuRef nsv825876 11 47896081 47897596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428441 S 31 0 1 "" NA18968 nsv317 11 47952479 47963842 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8912 S 9 0 1 PTPRJ NA12156 nsv528641 11 47960945 47999629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705272 S 2026 0 1 PTPRJ dgv1091n71 11 47960945 48868236 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897327,nsv897330,nsv897328 M 6533 3 0 OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ MS17879,MS19685,MS21771 nsv39746 11 47967034 47967400 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58324 M 24 PTPRJ nsv897329 11 48009252 48276550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553714 S 6533 1 0 OR4B1,OR4X1,OR4X2,PTPRJ MS20251 nsv467871 11 48063062 48651447 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543009 S 1557 1 0 OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ 1780862521_A esv2458591 11 48076271 48077866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194092 S 1 0 1 PTPRJ NA18507 esv2380235 11 48076463 48077144 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978130 S 1 0 1 PTPRJ NA18507 esv3499 11 48076581 48077079 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25940 S 1 0 1 Single Asian sample YH PTPRJ YH esv1002186 11 48076629 48077238 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565012 S 3 0 1 PTPRJ HuRef esv990562 11 48076645 48076950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574918 S 3 0 1 PTPRJ HuRef esv7637 11 48076655 48076944 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30078 S 1 0 1 PTPRJ SJK nsv428253 11 48090572 48481557 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452072 S 62 0 1 OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2,PTPRJ HGDP00984 nsv467873 11 48171568 48343851 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543011 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2 HGDP00984 nsv469953 11 48171568 48503251 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546106 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR4A47,OR4B1,OR4C3,OR4C45,OR4S1,OR4X1,OR4X2 HGDP00984 esv1297350 11 48177433 48177505 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165631 S 2 0 1 "" HuRef esv25696 11 48205600 48206900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14888 S 451 0 1 "" NA19225 nsv508628 11 48230730 48316319 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618711 S 4 0 1 OR4C3,OR4S1,OR4X1 NA10860 dgv366e1 11 48260247 48956881 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24383,essv24955,essv20516 M 271 0 0 LOC120824,OR4A47,OR4C3,OR4C45,OR4S1 NA12707,NA12716 esv542 11 48260247 49141766 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FOLH1,LOC120824,LOC283116,OR4A47,OR4C3,OR4C45,OR4S1,TRIM64C nsv510254 11 48262444 48268444 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621556,nssv618343,nssv623916 M 4 0 3 "" CHM,NA15510,NA18994 nsv8812 11 48283862 48285680 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18335,nssv18262,nssv17980,nssv19850,nssv20327,nssv19646,nssv18191,nssv23583,nssv21028,nssv22781,nssv19984,nssv20249,nssv22291,nssv20499,nssv23021,nssv22213,nssv20708,nssv18289,nssv22482,nssv19995,nssv19696,nssv19022,nssv22881,nssv19716,nssv25211,nssv19998,nssv20185,nssv20767 M 31 28 0 Samples from several populations that are part of the HapMap project. OR4S1 NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv1244618 11 48284063 48284063 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354832 S 2 1 0 "" HuRef dgv213n67 11 48284081 48284620 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825878,nsv825877 M 31 9 0 OR4S1 AK12,AK16,AK20,AK4,AK8,NA18537,NA18972,NA18997,NA18999 dgv214n67 11 48284081 48284793 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825880,nsv825882,nsv825879,nsv825881 M 31 18 0 OR4S1 AK10,AK14,AK18,AK2,AK6,NA18526,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18973 nsv820164 11 48284104 48284816 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419068 S 2 1 0 OR4S1 AK1 esv23698 11 48284248 48284754 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19883 S 451 16 0 OR4S1 NA11894,NA11993,NA11995,NA12044,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18508,NA18909,NA19099,NA19108,NA19190 esv33256 11 48284286 48284573 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93091,essv92921,essv96684,essv93183 M 51 0 4 OR4S1 21863,21939,22011,22170 dgv1092n71 11 48300480 48441284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897331,nsv897332 M 6533 0 3 OR4C3,OR4C45 IS33545,IS41664,MS25244 nsv897333 11 48300480 48675981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525771 S 6533 1 0 OR4A47,OR4C3,OR4C45 SP56805 dgv48e55 11 48302778 48929078 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34690,esv34253,esv2751025 M 771 0 3 OR4A47,OR4C3,OR4C45 NA12707,NA12716,SPC_25 esv1974352 11 48308033 48308893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759192 S 1 0 1 "" NA18507 esv9614 11 48308159 48308701 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32055 S 1 0 1 "" SJK nsv512224 11 48308951 48311633 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624794 S 1 0 1 "" 1 esv2330899 11 48311007 48311678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515645 S 1 0 1 "" NA18507 esv8277 11 48311137 48311563 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30718 S 1 0 1 "" SJK esv272680 11 48317257 48318472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578885,essv2579501 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270748 11 48317260 48318468 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511003,essv2503211,essv2505115,essv2502313,essv2512417,essv2513156,essv2510330,essv2508552,essv2508340,essv2502571,essv2493389,essv2505062,essv2508841,essv2500266,essv2502767,essv2496883,essv2510596,essv2494266,essv2503036,essv2509729,essv2496170,essv2494924,essv2509132,essv2506029,essv2500444,essv2512986,essv2494627,essv2497247,essv2508288,essv2499871,essv2504559,essv2507914,essv2511345,essv2500115,essv2507671,essv2508175,essv2508469,essv2508621,essv2510047,essv2501545,essv2507511,essv2498528,essv2505688,essv2507111,essv2509233,essv2511152,essv2497857,essv2503480,essv2502482,essv2512333,essv2502714,essv2500732,essv2505621,essv2504822,essv2506443,essv2497481,essv2512012,essv2501823,essv2498227,essv2502207,essv2495093,essv2499535 M 157 62 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11831,NA11881,NA11995,NA12004,NA12043,NA12249,NA12414,NA12717,NA12749,NA12750,NA12776,NA12828,NA12878,NA12891,NA12892,NA18498,NA18501,NA18502,NA18507,NA18508,NA18511,NA18520,NA18522,NA18523,NA18537,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18570,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18638,NA18858,NA18861,NA18870,NA18909,NA18944,NA18945,NA18947,NA18948,NA18949,NA18965,NA18973,NA19005,NA19099,NA19108,NA19147,NA19238,NA19239,NA19240,NA19257 nsv318 11 48319458 48348830 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3948 S 9 1 0 OR4C45 NA12878 esv2588801 11 48323546 48331175 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385276 S 1 0 1 OR4C45 NA18507 nsv435627 11 48323868 48332434 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466651 S 2 0 1 OR4C45 NA15510 nsv512225 11 48324066 48330409 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624795 S 1 0 1 OR4C45 1 esv6757 11 48324092 48330265 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29198 S 1 0 1 OR4C45 SJK nsv39760 11 48324105 48330285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58338 M 24 OR4C45 nsv469954 11 48333226 48722142 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546107 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR4A47 HGDP00656 esv1654433 11 48335329 48335329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626962 S 2 1 0 "" HuRef nsv39341 11 48335330 48335330 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57919 M 24 "" dgv1093n71 11 48341207 48431847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897334,nsv897338 M 6533 0 2 "" IS41981,SP56132 nsv511467 11 48343830 48345233 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626082 S 1 0 1 "" 1 nsv897335 11 48343851 48406465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545138 S 6533 0 1 "" MS16697 dgv1094n71 11 48343851 48461172 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897336,nsv897337,nsv897340 M 6533 0 3 "" IS34599,MS12644,MS18947 nsv897339 11 48364239 48441284 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548146,nssv1546313,nssv1548436 M 6533 1 2 "" MS17130,MS17705,MS17842 nsv832144 11 48393119 48548547 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449170 S 95 0 1 OR4A47 nsv897341 11 48394513 48469386 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514788 S 6533 1 0 OR4A47 SP56079 esv1981023 11 48403228 48403847 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906476 S 1 0 1 "" NA18507 esv1489580 11 48403406 48403702 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361334 S 2 0 1 "" HuRef nsv39544 11 48403683 48413500 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58122 M 24 "" dgv1095n71 11 48442453 48915263 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897351,nsv897342 M 6533 0 2 OR4A47 IS35287,IS41981 nsv897343 11 48461172 48651447 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553715 S 6533 1 0 OR4A47 MS20251 nsv467874 11 48461172 49913339 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543012 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOLH1,LOC120824,LOC283116,LOC440040,OR4A47,TRIM64C HGDP00656 nsv897344 11 48486235 48529253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509166 S 6533 0 1 "" SP54760 nsv897345 11 48486235 48545350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599617 S 6533 1 0 "" IS41730 esv2751026 11 48491347 48548668 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982588,essv6989653 M 771 0 1 "" BEC_569 nsv897346 11 48503251 48538341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555216 S 6533 0 1 "" MS21242 dgv1096n71 11 48514825 48546574 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897347,nsv897348 M 6533 2 0 "" IS35441,IS37156 dgv1097n71 11 48514825 48564827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897349,nsv897350 M 6533 0 2 "" IS41971,MS12644 nsv508629 11 48546950 48565127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617388,nssv618712,nssv619917 M 4 0 3 "" CHM,NA10860,NA15510 dgv37n16 11 48555668 48561467 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435628,nsv436138 M 2 0 2 "" NA15510,NA18505 esv2607812 11 48556600 48562618 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250443 S 1 0 1 "" NA18507 esv991641 11 48557050 48568101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564853 S 3 0 1 "" HuRef esv2192804 11 48557249 48561065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620727 S 1 0 1 "" NA18507 esv5116 11 48557391 48560928 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27557 S 1 0 1 Single Asian sample YH "" YH esv1002682 11 48557432 48560857 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577354 S 3 0 1 "" HuRef esv9210 11 48557432 48560872 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31651 S 1 0 1 "" SJK esv28864 11 48557432 48560877 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13195 S 451 7 15 "" NA11894,NA11993,NA11995,NA12044,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA19099,NA19114,NA19129,NA19225,NA19240,NA19257 nsv820658 11 48557432 48560948 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420942 S 1 0 1 "" NA10851 nsv38551 11 48557433 48560858 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57129 M 24 "" nsv38629 11 48565907 48565907 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57207 M 24 "" nsv39345 11 48565911 48565911 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57923 M 24 "" nsv897352 11 48573270 48625966 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514789 S 6533 1 0 "" SP56079 nsv897353 11 48573270 48711110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528785 S 6533 0 1 "" SP81361 dgv1098n71 11 48573270 48944115 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897354,nsv897358 M 6533 3 0 "" IS33162,IS38403,IS39243 dgv1099n71 11 48614746 48858129 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897355,nsv897356,nsv897357 M 6533 6 0 "" IS33504,IS40799,MS11726,MS19634,MS20872,SP55295 nsv8814 11 48615838 48858172 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22512 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv3436 11 48636692 48637043 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25877 S 1 0 1 Single Asian sample YH "" YH esv28686 11 48643446 48858100 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10297,esv11066,esv15970 M 451 2 2 "" NA11995,NA12414,NA15510,NA18916 esv1773563 11 48646594 48646763 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094546 S 2 0 1 "" HuRef dgv1100n71 11 48651447 48879221 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897372,nsv897371,nsv897383,nsv897384,nsv897360,nsv897385 M 6533 14 0 "" IS30493,IS31147,IS37156,MS10187,MS16125,MS16385,MS18815,SP50159,SP51260,SP52719,SP53791,SP53987,SP55312,SP55488 dgv1101n71 11 48651447 48879221 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897361,nsv897359,nsv897362 M 6533 7 10 "" IS31656,IS32517,IS32686,IS33839,IS34005,IS34549,IS38344,IS39272,MS10195,MS11632,MS12493,MS12510,MS13319,MS14907,SP58378,SP81264,SP81461 nsv897366 11 48651447 48920995 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527410,nssv1565316 M 6533 1 1 "" IS30389,SP58408 dgv1102n71 11 48651447 48944115 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897363,nsv897373,nsv897374,nsv897386,nsv897375,nsv897365,nsv897367,nsv897364 M 6533 10 0 "" IS30206,IS35007,IS35487,IS38388,IS41950,MS10699,MS16038,MS21700,MS23290,SP81533 esv9087 11 48652433 48652931 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31528 S 1 0 1 "" SJK dgv1103n71 11 48669261 48749266 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897369,nsv897368,nsv897377 M 6533 22 6 "" SP50598,SP50766,SP50783,SP51167,SP51192,SP52234,SP52432,SP54345,SP54384,SP54395,SP54967,SP55034,SP55174,SP55212,SP55219,SP55345,SP55649,SP55650,SP55684,SP55992,SP56136,SP56152,SP56248,SP56396,SP56518,SP56549,SP56927,SP56959 dgv1104n71 11 48669261 48820745 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897370,nsv897381,nsv897380,nsv897382 M 6533 4 0 "" SP50615,SP55160,SP56913,SP81014 nsv512226 11 48670184 48671663 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624796 S 1 0 1 "" 1 esv3264 11 48670603 48671726 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25705 S 1 0 1 Single Asian sample YH "" YH esv7144 11 48670629 48671658 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29585 S 1 0 1 "" SJK nsv433414 11 48675981 48807363 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463295 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18507 nsv819734 11 48675981 48909931 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418875 S 2 1 0 "" AK1 nsv433415 11 48675981 48911561 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463296 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv897376 11 48676083 48983646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542889 S 6533 0 1 LOC120824 MS15926 nsv897378 11 48680611 48756916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507228 S 6533 0 1 "" SP54509 nsv897379 11 48680611 48785845 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515433 S 6533 1 0 "" SP56196 nsv508630 11 48681753 48780566 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618714 S 4 0 1 "" NA10860 esv4535 11 48690161 48720029 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26976 S 1 0 0 Single Asian sample YH "" YH esv2436794 11 48690565 48694147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204609 S 1 0 1 "" NA18507 nsv897387 11 48704187 48852229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512571 S 6533 0 1 "" SP55557 esv1355829 11 48705271 48705271 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968870 S 2 1 0 "" HuRef dgv1105n71 11 48722143 48920995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897392,nsv897389,nsv897388 M 6533 4 0 "" IS31117,MS15803,MS17285,MS25946 dgv1106n71 11 48722143 48966453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897391,nsv897393,nsv897390 M 6533 0 3 LOC120824 IS35973,MS18947,MS19039 nsv442229 11 48729238 48740069 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv897394 11 48744393 48858129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513376 S 6533 1 0 "" SP55748 esv6531 11 48766561 48767931 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28972 S 1 0 1 "" SJK dgv1107n71 11 48769843 48879101 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897396,nsv897395 M 6533 2 0 "" SP53473,SP56828 esv1354293 11 48770660 48770831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600568 S 2 0 1 "" HuRef esv6298 11 48771998 48777153 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28739 S 1 0 1 "" SJK nsv509407 11 48783754 48826966 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623383 S 4 1 0 "" NA18994 essv4365 11 48806924 49141766 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FOLH1,LOC120824,LOC283116,TRIM64C NA18573 nsv433416 11 48807163 48899026 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463297 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv897397 11 48807363 48904803 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559819 S 6533 1 0 "" MS24162 dgv1108n71 11 48807363 48920995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897401,nsv897400,nsv897398 M 6533 0 4 "" IS30633,IS36787,IS38052,IS41798 nsv513317 11 48814002 48814382 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625704 S 1 1 0 "" 1 esv2563111 11 48814280 48814744 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277475 S 1 1 0 "" NA18507 esv1254502 11 48814394 48814394 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159315 S 2 1 0 "" HuRef nsv897399 11 48835439 48898649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595992 S 6533 1 0 "" IS40380 esv2567872 11 48836036 48838588 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320640 S 1 0 1 "" NA18507 esv1766435 11 48837314 48838340 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975823 S 2 0 1 "" HuRef esv7775 11 48837322 48838344 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30216 S 1 0 1 "" SJK nsv442610 11 48843099 48849795 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv897402 11 48858129 48911330 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590210 S 6533 1 0 "" IS38471 dgv1109n71 11 48858129 48944115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897407,nsv897403 M 6533 0 10 "" IS30365,IS33857,IS34429,IS34473,IS35440,IS35675,IS38351,IS39009,IS39626,MS13390 nsv897404 11 48858129 48960497 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538124 S 6533 1 0 LOC120824 MS13490 nsv8815 11 48859089 48862899 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19726 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 nsv509408 11 48866537 48916799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620770,nssv619335,nssv623388 M 4 3 0 "" NA10860,NA15510,NA18994 dgv1110n71 11 48868236 48920995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897406,nsv897405 M 6533 0 10 "" IS31172,IS34523,IS36777,IS38397,IS39420,IS39759,IS41863,IS41940,IS41949,MS21528 esv1602715 11 48871605 48871605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049404 S 2 1 0 "" HuRef nsv8816 11 48873783 48877592 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19786 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 nsv469956 11 48879221 49824461 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546108 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOLH1,LOC120824,LOC283116,LOC440040,TRIM64C HGDP00789 nsv897408 11 48881402 48900336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567807 S 6533 0 1 "" IS31147 dgv1111n71 11 48881402 48909815 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897409,nsv897416 M 6533 5 0 "" SP51368,SP52231,SP56795,SP81354,SP81481 nsv897410 11 48881402 48911330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518168 S 6533 0 1 "" SP57469 dgv1112n71 11 48881402 48920995 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897423,nsv897411,nsv897425,nsv897438 M 6533 19 14 "" IS34820,IS38208,IS38338,IS38344,IS38445,IS40928,MS13430,MS14801,MS15915,MS18053,MS18290,MS21201,MS22268,MS23110,MS23865,MS24219,SP50091,SP52732,SP53670,SP54395,SP54607,SP55160,SP55650,SP55662,SP55834,SP55992,SP56200,SP56856,SP58536,SP81259,SP81264,SP81276,SP81495 dgv1113n71 11 48881402 48960497 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897412,nsv897428,nsv897466,nsv897461,nsv897413,nsv897454 M 6533 15 0 LOC120824 IS31656,IS32322,IS32888,IS34407,IS37874,IS38176,IS39272,IS40297,IS40799,IS40819,IS41634,MS19634,MS20334,MS23566,SP55295 essv5268 11 48881992 49024200 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC120824,LOC283116 NA18624 nsv897414 11 48886497 48902572 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577661 S 6533 1 0 "" IS34518 dgv1114n71 11 48886497 48904803 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897415,nsv897433 M 6533 8 10 "" MS14761,MS15383,MS16774,MS17316,MS19553,MS19766,MS23583,MS23875,MS24762,MS25451,MS25553,SP52378,SP52552,SP54408,SP54561,SP54875,SP56894,SP81475 dgv1115n71 11 48886497 48911786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897441,nsv897420,nsv897444,nsv897436 M 6533 0 5 "" MS11032,MS12644,MS24080,MS24374,SP51167 dgv1116n71 11 48886497 48912446 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897419,nsv897421,nsv897417,nsv897418,nsv897435,nsv897434,nsv897440 M 6533 26 18 "" IS30412,IS35972,IS37068,IS38400,IS39321,MS10674,MS10729,MS10950,MS11181,MS11191,MS11632,MS12406,MS12510,MS12539,MS13157,MS14919,MS15487,MS15748,MS15841,MS16047,MS17745,MS21628,MS23332,MS23889,MS24719,MS24783,MS25511,SP50598,SP50783,SP51218,SP51436,SP52376,SP53041,SP53528,SP53972,SP54792,SP55131,SP55683,SP56144,SP56518,SP57278,SP57518,SP81024,SP81242 dgv1117n71 11 48886497 48920995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897424,nsv897422,nsv897437 M 6533 6 0 "" IS37156,SP52175,SP52274,SP52455,SP55027,SP55212 dgv1118n71 11 48886497 48935354 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897439,nsv897426 M 6533 3 0 "" SP52475,SP56549,SP56816 dgv1119n71 11 48886497 48944115 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897448,nsv897427,nsv897453 M 6533 8 9 "" IS31067,IS33689,IS34749,IS37577,IS38141,IS38463,IS39061,IS39233,IS39310,IS41831,MS10195,MS17130,MS19736,MS20627,MS21214,MS23191,MS24020 dgv1120n71 11 48886497 48999442 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897429,nsv897430,nsv897442 M 6533 0 5 LOC120824 IS30322,IS37632,MS10797,MS25306,SP56769 nsv897431 11 48886497 49024721 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586849 S 6533 1 0 LOC120824,LOC283116 IS37985 esv25009 11 48888111 48920540 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15879 S 451 1 0 "" NA15510 nsv897432 11 48888315 48902572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505502 S 6533 0 1 "" SP53583 esv270559 11 48889664 48890014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516788,essv2517385,essv2515351,essv2518618,essv2515016,essv2516496,essv2515525,essv2518016,essv2516064,essv2514409,essv2517863,essv2515840,essv2513855,essv2518328,essv2513698 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11918,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18969,NA19143,NA19240 esv272703 11 48889664 48890014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581464,essv2581251 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1389261 11 48889701 48889701 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799265 S 2 1 0 "" HuRef esv5436 11 48891097 48891447 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27877 S 1 0 1 "" SJK esv1375983 11 48891131 48891470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074639 S 2 0 1 "" HuRef nsv897443 11 48892510 48909815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499548 S 6533 0 1 "" SP50128 nsv897445 11 48892510 48915263 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599618 S 6533 1 0 "" IS41730 dgv1121n71 11 48892510 48917273 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897446,nsv897450,nsv897457,nsv897469,nsv897449 M 6533 8 14 "" IS30082,IS31369,IS32864,IS33115,IS33970,IS37157,IS38263,IS38409,IS38515,IS38644,IS38659,IS39181,IS40396,IS40558,IS40815,MS10869,MS18896,MS19341,MS19599,MS19746,MS21649,SP55509 dgv1122n71 11 48892510 48920995 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897452,nsv897464,nsv897447,nsv897476 M 6533 8 13 "" IS30081,IS30180,IS31323,IS32411,IS34409,IS34807,IS35297,IS36158,IS37789,IS38047,IS38349,IS38582,IS40495,IS40678,IS41981,MS12564,MS19486,MS19922,MS20741,MS21117,MS25121 dgv1123n71 11 48894400 48920995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897467,nsv897473,nsv897458,nsv897470,nsv897451 M 6533 0 14 "" IS31147,IS31233,IS32686,IS36798,IS36825,IS37628,IS37891,IS38486,IS38567,IS38962,MS12017,MS15871,MS17394,MS17536 dgv1124n71 11 48896536 48911786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897468,nsv897455 M 6533 0 2 "" MS14810,SP57208 dgv1125n71 11 48896536 48917273 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897456,nsv897463,nsv897462 M 6533 3 0 "" IS33575,MS21841,SP55511 dgv1126n71 11 48896536 48920995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897459,nsv897471 M 6533 2 0 "" MS25216,SP51147 dgv1127n71 11 48896536 48944115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897465,nsv897460 M 6533 0 3 "" IS38103,IS38419,MS23071 esv1771752 11 48897335 48897335 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831600 S 2 1 0 "" HuRef dgv1128n71 11 48900157 48918267 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897477,nsv897478,nsv897479,nsv897474,nsv897475,nsv897472 M 6533 0 10 "" IS31778,IS33023,IS33745,IS34684,IS35461,IS37321,IS40298,MS14639,SP53812,SP55513 esv2566577 11 48901041 48903039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303394 S 1 0 1 "" NA18507 esv1456856 11 48905294 48905805 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328357 S 2 0 1 "" HuRef esv1423006 11 48920435 48920435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097001 S 2 1 0 "" HuRef esv6738 11 48921631 48962100 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29179 S 1 0 0 LOC120824 SJK nsv897480 11 48935354 48999442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516614 S 6533 0 1 LOC120824 SP56878 essv6496 11 48940894 49025210 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC120824,LOC283116 NA18636 dgv1129n71 11 48944115 49076943 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897482,nsv897483,nsv897481 M 6533 0 3 LOC120824,LOC283116,TRIM64C MS13400,MS20020,MS25042 esv1667632 11 48948527 48948527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718188 S 2 1 0 "" HuRef nsv832145 11 48959449 49141766 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449173,nssv1449171 M 95 2 0 FOLH1,LOC120824,LOC283116,TRIM64C nsv8817 11 48996501 49002444 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19816,nssv20279,nssv22810,nssv20357,nssv21058,nssv18319,nssv18292,nssv19880,nssv20768 M 31 9 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18517,NA18552,NA18563,NA18572,NA18853,NA18942,NA19144,NA19173 esv29707 11 48997338 49002363 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18385 S 451 3 0 "" NA18505,NA18517,NA18907 nsv825883 11 48997429 49002048 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425206 S 31 1 0 "" AK2 nsv897484 11 48999442 49119524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596928 S 6533 0 1 LOC283116,TRIM64C IS40676 esv2421548 11 49035447 49060266 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5108371,essv5127092,essv5105668,essv5095949,essv5116214,essv5129134,essv5084221,essv5079957,essv5015834,essv5134955,essv5088033,essv5028677,essv5130855,essv5043580,essv5051028,essv5086055,essv5003934,essv5125262,essv5077602,essv5051874,essv5011693,essv5017129,essv5004988,essv5081694,essv5107607,essv5031409,essv5076764,essv5066114,essv5065672,essv5053515,essv5024155,essv5141926,essv5139454,essv5158553 M 1184 0 34 TRIM64C NA18510,NA18913,NA18914,NA19094,NA19127,NA19159,NA19161,NA19182,NA19192,NA19194,NA19223,NA19238,NA19315,NA19383,NA19403,NA19438,NA19457,NA19470,NA19711,NA19777,NA19778,NA19900,NA19902,NA19904,NA20297,NA20337,NA20340,NA20344,NA21353,NA21381,NA21383,NA21476,NA21477,NA21739 nsv8818 11 49038280 49055096 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20025,nssv22542,nssv25236,nssv22910,nssv23049,nssv20529 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA12740,NA18502,NA18537,NA18972,NA19132,NA19221 esv24376 11 49041909 49050652 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17649 S 451 0 1 "" NA18508 nsv442611 11 49044557 49060262 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv215n67 11 49070918 49076802 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825884,nsv825885 M 31 3 0 "" NA18570,NA18947,NA18949 nsv8819 11 49072572 49076254 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21118,nssv20028,nssv19676,nssv20014,nssv19910,nssv22243,nssv20559,nssv22839,nssv23107 M 31 9 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12740,NA18504,NA18517,NA18564,NA18853,NA18972,NA19007,NA19144 nsv825887 11 49072632 49077808 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441345 S 31 0 1 "" NA18969 esv27562 11 49072729 49077808 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20589,esv15480 M 451 22 0 "" NA11894,NA11993,NA11995,NA12004,NA12044,NA12287,NA12414,NA12489,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19129,NA19190,NA19225,NA19257 nsv498754 11 49072877 49076217 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586472 S 9 0 1 "" nsv820585 11 49073190 49076367 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420943 S 1 0 1 "" NA10851 nsv319 11 49080494 49100669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8913 S 9 0 1 "" NA12156 nsv498755 11 49082195 49084220 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586483 S 9 0 1 "" nsv528414 11 49088883 49091877 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705006 S 2026 1 0 "" nsv525454 11 49112615 49527163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701582 S 2026 0 1 FOLH1 nsv518571 11 49119524 49584409 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696014 S 2026 1 0 FOLH1,LOC440040 essv23230 11 49168813 49297907 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FOLH1 NA07029 dgv367e1 11 49168813 49425542 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv525,essv9672 M 271 0 0 FOLH1 NA18913 dgv368e1 11 49238492 49317264 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14209,essv13502 M 271 0 0 "" NA18913,NA18914 essv12054 11 49255043 49355549 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19238 essv101800 11 49260934 49355549 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 nsv442230 11 49264380 49317267 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv467875 11 49267528 49394908 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543013 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01285 nsv818817 11 49283110 49314923 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416863 S 112 0 1 "" NA19238 esv269691 11 49322755 49322840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519155 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv897485 11 49327410 49414631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515349 S 6533 0 1 "" SP56172 nsv897486 11 49330358 49645413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599031 S 6533 0 1 LOC440040 IS41224 dgv1130n71 11 49347195 49566670 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897487,nsv897489,nsv897488 M 6533 0 3 LOC440040 IS41971,MS17114,MS17697 nsv8820 11 49348121 49358342 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22939 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2297536 11 49381471 49382199 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794103 S 1 0 1 "" NA18507 esv9244 11 49381638 49382009 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31685 S 1 0 1 "" SJK dgv22n6 11 49381658 49382008 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv38744,nsv38497 M 24 "" esv1008814 11 49381668 49382002 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568516 S 3 0 1 "" HuRef esv1497737 11 49381673 49382008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027587 S 2 0 1 "" HuRef esv2359507 11 49398725 49399403 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956724 S 1 0 1 "" NA18507 esv2457460 11 49398909 49399219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195248 S 1 0 1 "" NA18507 nsv832146 11 49449525 49628881 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449174 S 95 1 0 LOC440040 nsv897490 11 49455499 49576829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570551 S 6533 0 1 LOC440040 IS32166 nsv897491 11 49455499 50026908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535376 S 6533 1 0 LOC440040,OR4C12,OR4C13 MS12188 essv14807 11 49538501 49715432 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC440040 NA18870 esv1190 11 49538501 49820388 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 LOC440040 nsv897492 11 49552655 49645413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556687 S 6533 0 1 LOC440040 MS22112 nsv897493 11 49552655 49853895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584216 S 6533 1 0 LOC440040 IS36909 essv18554 11 49594788 49726569 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC440040 NA10851 dgv369e1 11 49618505 49715432 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25129,essv18890,essv18667,essv18487,essv21091,essv21566 M 271 0 0 LOC440040 NA10854,NA10856,NA12056,NA12146,NA12156,NA12717 nsv832147 11 49618652 49799967 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449175 S 95 1 0 LOC440040 dgv370e1 11 49629519 49820388 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20827,essv18058 M 271 0 0 LOC440040 NA06993,NA10855 nsv7216 11 49652853 49748929 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3949,nssv9821,nssv9820,nssv10817,nssv1936,nssv5356,nssv10892 M 9 0 0 LOC440040 NA12878,NA15510,NA18507,NA18555,NA18956,NA19129 esv33193 11 49655696 49709536 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101520,essv98823,essv96857,essv95740,essv98977,essv92896,essv93238 M 51 0 7 LOC440040 21603,21606,21659,21841,21938,21939,22170 dgv371e1 11 49657987 49697457 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19703,essv24541,essv20835,essv21889,essv25163,essv24195 M 271 0 0 LOC440040 NA06991,NA07056,NA11829,NA11831,NA11839,NA12236 dgv372e1 11 49657987 49726569 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14827,essv8071,essv8537,essv21487,essv13215,essv13394,essv13948 M 271 0 0 LOC440040 NA10830,NA18523,NA18872,NA19119,NA19120,NA19160,NA19161 dgv373e1 11 49657987 49746262 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8673,essv17376,essv16567 M 271 0 0 LOC440040 NA18855,NA19101,NA19193 nsv8821 11 49665251 49721982 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18010,nssv18349,nssv20215,nssv19194,nssv19983,nssv22273,nssv19776,nssv20798,nssv23611,nssv19052,nssv22868,nssv20589,nssv18322,nssv22321,nssv19846,nssv23135,nssv18221,nssv19940,nssv19706,nssv20387,nssv25261,nssv22572,nssv20058,nssv20309,nssv18365,nssv20055,nssv21148,nssv20044,nssv22968,nssv20797 M 31 30 0 Samples from several populations that are part of the HapMap project. LOC440040 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv216n67 11 49666076 49721899 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825888,nsv825889,nsv825890 M 31 0 3 LOC440040 NA18969,NA18973,NA18997 nsv821446 11 49666076 49725816 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420944 S 1 0 1 LOC440040 NA10851 esv21634 11 49666184 49714391 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17353 S 451 36 0 LOC440040 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv819842 11 49666218 49716446 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418747 S 2 1 0 LOC440040 AK1 nsv514620 11 49667416 49709928 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628101 S 1414 0 1 LOC440040 nsv442612 11 49667437 49714078 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC440040 esv2422162 11 49667437 49714247 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111660,essv5090473,essv5119949,essv5027178,essv5125918,essv5154419,essv5060634,essv5094092,essv5153595,essv5016116,essv5034472,essv5114718,essv5107362,essv5021892,essv5041038,essv5086805,essv5118050,essv5018014,essv5074211,essv5103518,essv5016446,essv5072441,essv5012504,essv5139877,essv5046153,essv5028737,essv5131310,essv5129933,essv5093950,essv5120470,essv5037535,essv5086280,essv5061729,essv5014830,essv5022157,essv5082421,essv5158900,essv5089087,essv5009059,essv5118741,essv5033324,essv5100455,essv5124214,essv5061002,essv5055845,essv5063652,essv5052904,essv5098751,essv5144175,essv5093194,essv5130074,essv5053648,essv5131371,essv5047820,essv5071798,essv5138584,essv5075902,essv5122854,essv5031737,essv5155482,essv5110994,essv5054283,essv5093926,essv5034498,essv5006431,essv5045641,essv5102199,essv5143629,essv5067155,essv5050141,essv5113749,essv5141702,essv5022073,essv5160792,essv5136443,essv5121892,essv5002758,essv5027121,essv5041732 M 1184 0 79 LOC440040 NA06991,NA06993,NA07056,NA10830,NA10836,NA10853,NA10854,NA10855,NA10856,NA11829,NA11831,NA11839,NA11843,NA12045,NA12056,NA12146,NA12156,NA12275,NA12341,NA12348,NA12383,NA12708,NA12813,NA12829,NA12877,NA12890,NA18484,NA18488,NA18855,NA18862,NA18863,NA18868,NA18870,NA18872,NA19031,NA19101,NA19119,NA19120,NA19160,NA19161,NA19189,NA19193,NA19213,NA19214,NA19257,NA19350,NA19393,NA19397,NA19652,NA19653,NA19658,NA19701,NA19782,NA19784,NA19921,NA20129,NA20348,NA20359,NA20360,NA20755,NA20773,NA20775,NA20800,NA20803,NA20807,NA20808,NA20845,NA20853,NA20862,NA20871,NA21106,NA21137,NA21141,NA21295,NA21300,NA21520,NA21577,NA21613,NA21617 nsv433264 11 49669405 49734476 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463145 S 9 0 1 Samples from several populations that are part of the HapMap project. LOC440040 NA12156 essv23739 11 49670299 49697457 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC440040 NA12813 nsv511003 11 49672692 49725579 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622359,nssv618612,nssv621562,nssv624290 M 4 0 0 LOC440040 CHM,NA10860,NA15510,NA18994 esv33425 11 49688867 50074123 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99770 S 51 1 0 LOC440040,OR4C12,OR4C13 22086 nsv499786 11 49692869 49707594 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585496 S 9 0 0 LOC440040 esv1679496 11 49693128 49706324 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272661 S 2 0 0 LOC440040 HuRef nsv70 11 49698283 49740901 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv70 S 1 0 0 LOC440040 NA15510 dgv3e49 11 49711486 49715432 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis essv101809,essv101792 M 270 0 2 LOC440040 NA18563,NA18972 esv9594 11 49715872 49717441 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32035 S 1 0 1 LOC440040 SJK esv2421425 11 49716131 49717264 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5089408,essv5033091,essv5156623,essv5099360,essv5091384,essv5157330,essv5030721,essv5007795,essv5043060,essv5127708,essv5160766,essv5122998,essv5103161,essv5111280,essv5081437,essv5067287,essv5036722,essv5132058,essv5102415,essv5115366,essv5046394,essv5056679,essv5049756,essv5006910,essv5013889,essv5155489,essv5062722,essv5146954,essv5008110,essv5131553,essv5072454,essv5066760,essv5096090,essv5065740,essv5036662,essv5039211,essv5132646,essv5159079,essv5006184,essv5141021,essv5092185,essv5059331,essv5122590,essv5118799,essv5109767,essv5015865,essv5133731,essv5082983,essv5017170,essv5133243,essv5156113,essv5037273,essv5139369,essv5107198,essv5149417,essv5019953,essv5151292,essv5027471,essv5098799,essv5117134,essv5156191,essv5046399,essv5079626,essv5102402,essv5088292,essv5078123,essv5020869,essv5135188,essv5016395,essv5036513,essv5122538,essv5020973,essv5026028,essv5081950,essv5107706,essv5087427,essv5124150,essv5100624,essv5120199,essv5030941,essv5078860,essv5052114,essv5124254,essv5070764,essv5021908,essv5122416,essv5100911,essv5014412,essv5140749,essv5036624,essv5113874,essv5152869,essv5131749,essv5106051,essv5111871,essv5008759,essv5014585,essv5142182,essv5130345,essv5128843,essv5067444,essv5096881,essv5036396,essv5130507,essv5025401,essv5065341,essv5065140,essv5065869,essv5124024,essv5073938,essv5061106,essv5038030,essv5140794,essv5049715,essv5159089,essv5041139,essv5079163,essv5006134,essv5065997,essv5105839,essv5133034,essv5110188,essv5096204,essv5150007,essv5072674,essv5144171,essv5048232,essv5030331,essv5115946,essv5053931,essv5147919,essv5085744,essv5024995,essv5083536,essv5101976,essv5110156,essv5134633,essv5057956,essv5028009,essv5028251,essv5089258,essv5029199,essv5031231,essv5060281,essv5150537,essv5125498,essv5005878,essv5026059,essv5142709,essv5035111,essv5005413,essv5084000,essv5019604,essv5030036,essv5029451,essv5139508,essv5027629,essv5097264,essv5054293,essv5036066,essv5092576,essv5112573,essv5148522,essv5070775,essv5099703,essv5005418,essv5045059,essv5151075,essv5053922,essv5075368,essv5161050,essv5157681,essv5083764,essv5012910,essv5049544,essv5154671,essv5148781,essv5086691,essv5002707,essv5100396,essv5002355,essv5077563,essv5067102,essv5036967,essv5150346,essv5102226,essv5071170,essv5099929,essv5087862,essv5134227,essv5039193,essv5098361,essv5087512,essv5105133,essv5141225,essv5150949,essv5030284,essv5036553,essv5069067,essv5088047,essv5075884,essv5007509,essv5128348,essv5159439,essv5017669,essv5159742,essv5003159,essv5033118 M 1184 0 208 LOC440040 NA06986,NA06993,NA10839,NA10843,NA10859,NA11843,NA11882,NA11892,NA11919,NA11994,NA12005,NA12264,NA12272,NA12273,NA12347,NA12375,NA12386,NA12399,NA12767,NA12777,NA12872,NA17965,NA17979,NA17980,NA17982,NA17986,NA17987,NA17995,NA17997,NA18106,NA18107,NA18109,NA18112,NA18117,NA18127,NA18129,NA18136,NA18141,NA18143,NA18146,NA18147,NA18151,NA18155,NA18158,NA18159,NA18160,NA18161,NA18162,NA18534,NA18544,NA18546,NA18552,NA18562,NA18566,NA18570,NA18595,NA18599,NA18603,NA18605,NA18608,NA18614,NA18618,NA18620,NA18623,NA18628,NA18632,NA18637,NA18638,NA18639,NA18640,NA18642,NA18643,NA18645,NA18674,NA18685,NA18694,NA18696,NA18702,NA18745,NA18749,NA18939,NA18943,NA18954,NA18955,NA18960,NA18962,NA18963,NA18966,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18987,NA18990,NA18994,NA18995,NA19001,NA19010,NA19056,NA19062,NA19066,NA19076,NA19078,NA19081,NA19084,NA19085,NA19176,NA19371,NA19654,NA19670,NA19671,NA19675,NA19677,NA19678,NA19681,NA19683,NA19684,NA19686,NA19708,NA19712,NA19755,NA19757,NA19773,NA19776,NA19789,NA19790,NA19795,NA19796,NA20281,NA20300,NA20301,NA20319,NA20364,NA20502,NA20506,NA20516,NA20752,NA20755,NA20756,NA20759,NA20765,NA20771,NA20774,NA20792,NA20805,NA20809,NA20813,NA20826,NA20828,NA20847,NA20849,NA20851,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20874,NA20876,NA20879,NA20884,NA20887,NA20889,NA20890,NA20892,NA20894,NA20897,NA20899,NA20901,NA20902,NA20903,NA20906,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21092,NA21094,NA21097,NA21101,NA21102,NA21105,NA21107,NA21108,NA21109,NA21111,NA21113,NA21116,NA21117,NA21118,NA21119,NA21142,NA21143,NA21144,NA21314,NA21367,NA21524,NA21596,NA21608,NA21615,NA21616,NA21722 nsv442613 11 49716131 49717264 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC440040 esv7368 11 49800590 49865411 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29809 S 1 0 0 "" SJK nsv467876 11 49802136 50014430 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543014 S 1557 1 0 OR4C12,OR4C13 1780854511_A nsv438184 11 49805757 49811283 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470328,nssv470329 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19099,NA19240 dgv1131n71 11 49812317 49890432 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897495,nsv897494 M 6533 2 0 "" MS15398,SP53528 nsv510255 11 49835807 49841807 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623927 S 4 0 1 "" NA18994 nsv897496 11 49879899 50052490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584217 S 6533 1 0 OR4C12,OR4C13 IS36909 dgv1132n71 11 49950201 50950526 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897497,nsv897507,nsv897499 M 6533 3 0 LOC441601,LOC646813,OR4C12 MS23145,SP55596,SP56658 nsv897498 11 49954007 50282317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597200 S 6533 1 0 LOC441601,OR4C12 IS40762 nsv428254 11 49959551 50027573 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452076,nssv452079,nssv452078,nssv452077 M 62 0 4 OR4C12 HGDP00467,NA19113,NA19181,NA19189 nsv511004 11 49991993 50005574 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622361,nssv618668,nssv621565 M 4 0 0 "" CHM,NA10860,NA15510 dgv49e55 11 49992100 51231886 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751028,esv2751027 M 771 2 0 LOC441601,LOC646813 SPC_180,SPC_50 esv34613 11 49992129 50083553 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979109,essv6979110,essv6990327 M 771 1 0 "" NA12892 nsv509409 11 50005574 50005574 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623400 S 4 1 0 "" NA18994 essv12779 11 50013000 50245780 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC441601 NA19120 dgv374e1 11 50013000 50405768 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv642,essv8227,essv20666 M 271 0 0 LOC441601,LOC646813 NA12892,NA19116 nsv467877 11 50014430 50599126 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543015 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC441601,LOC646813 HGDP00519 nsv516340 11 50021328 51382454 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660209,nssv677084,nssv666069,nssv657490,nssv704882,nssv672888,nssv702565,nssv690792,nssv667339,nssv698544,nssv699246,nssv653850,nssv700958,nssv686256,nssv667821,nssv690337,nssv703310,nssv674653,nssv701023,nssv672802,nssv692508,nssv658245,nssv689327,nssv677608,nssv681298,nssv671257,nssv694409,nssv686217,nssv652618,nssv654463,nssv672801,nssv657803,nssv661218,nssv694985,nssv683043,nssv693826,nssv685552,nssv653769,nssv676463,nssv692666,nssv652522,nssv658761,nssv697209,nssv697003,nssv661009,nssv680583,nssv689164,nssv699027,nssv661319,nssv687256,nssv652503,nssv679267,nssv654218,nssv683799,nssv653534,nssv677785,nssv678906,nssv670581,nssv675018,nssv702732,nssv659067,nssv657154,nssv660582,nssv695009,nssv669468,nssv675999,nssv670062,nssv652798,nssv698543,nssv678803,nssv664448,nssv659655,nssv671844,nssv685938,nssv687203,nssv692089,nssv657984,nssv669638,nssv696135,nssv684855,nssv668400,nssv658344 M 2026 14 68 LOC441601,LOC646813,OR4A5,OR4C46 dgv1133n71 11 50027657 50194693 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897500,nsv897502,nsv897503,nsv897501 M 6533 6 0 "" IS31306,IS32766,IS37683,IS38591,IS40716,MS23490 dgv1134n71 11 50027657 50249096 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897505,nsv897504 M 6533 2 0 LOC441601 IS34809,IS38505 nsv897506 11 50027657 50599126 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589231,nssv1597252 M 6533 2 0 LOC441601,LOC646813 IS38329,IS40795 esv28553 11 50033836 50081191 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19803 S 451 1 0 "" NA12878 nsv7217 11 50047247 50337552 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3950 S 9 0 0 LOC441601,LOC646813 NA12878 nsv8822 11 50048783 50052500 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20339 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv469594 11 50050300 50242456 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649709 M 265 1 0 Samples from several populations that are part of the HapMap project. LOC441601 nsv433417 11 50052136 50091253 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463298 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv818818 11 50052490 50078577 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416177,nssv1416176 M 112 2 0 "" NA12878,NA12892 nsv511005 11 50071838 50270951 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624291 S 4 0 0 LOC441601 NA18994 esv1384977 11 50092701 50092789 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906037 S 2 0 1 "" HuRef esv1363343 11 50092857 50093115 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244637 S 2 0 1 "" HuRef nsv832149 11 50098692 50273027 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449176,nssv1449180,nssv1449177,nssv1449179,nssv1449178 M 95 5 0 LOC441601 dgv1135n71 11 50109294 50260700 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897508,nsv897511 M 6533 2 0 LOC441601 IS36909,SP55269 nsv897509 11 50109294 50396846 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561513 S 6533 1 0 LOC441601,LOC646813 MS25042 essv12037 11 50128453 50332876 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC441601,LOC646813 NA19116 nsv897510 11 50134506 50189333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534910 S 6533 1 0 "" MS11791 nsv897512 11 50141729 50215029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592681 S 6533 1 0 LOC441601 IS39243 esv34231 11 50150660 50330714 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978474,essv6986626,essv6978475 M 771 1 0 LOC441601,LOC646813 NA19116 esv991424 11 50191206 50191255 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567039 S 3 0 1 "" HuRef esv1678478 11 50191221 50191271 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218405 S 2 0 1 "" HuRef nsv467878 11 50194788 50335541 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543016 S 1557 1 0 LOC441601,LOC646813 1780862347_A dgv1136n71 11 50201828 50950526 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897523,nsv897530,nsv897513,nsv897518 M 6533 5 0 LOC441601,LOC646813 IS34809,IS37683,IS40716,IS40958,MS23490 nsv818819 11 50205110 50249096 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416659,nssv1416661 M 112 2 0 LOC441601 NA19116,NA19120 dgv375e1 11 50230022 50405768 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21336,essv25063 M 271 0 0 LOC646813 NA12878,NA12892 nsv8823 11 50233483 50235745 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19806,nssv20104,nssv18251,nssv20828,nssv20827 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA10839,NA10863,NA11830,NA12155,NA12872 esv22849 11 50248032 50339095 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15092,esv14338 M 451 2 0 LOC646813 NA12004,NA12878 dgv1137n71 11 50253581 50431035 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897524,nsv897525,nsv897514 M 6533 3 0 LOC646813 IS30133,MS11791,SP53685 nsv897515 11 50253581 50470172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534827 S 6533 0 1 LOC646813 MS11733 dgv1138n71 11 50253581 50669978 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897516,nsv897522,nsv897526,nsv897517,nsv897529 M 6533 5 0 LOC646813 IS31306,IS32766,IS38274,IS38505,IS38591 dgv1139n71 11 50254862 50361715 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897521,nsv897528,nsv897519 M 6533 4 0 LOC646813 SP50904,SP53320,SP53330,SP55660 nsv433418 11 50260700 50338326 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463299 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC646813 NA12878 nsv897520 11 50260700 50396846 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520192,nssv1526771,nssv1568449 M 6533 2 1 LOC646813 IS31285,SP50742,SP57789 esv2421946 11 50276633 50366065 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109546,essv5019211,essv5009472,essv5112431,essv5082875,essv5066446,essv5002093,essv5146804,essv5119736,essv5159118,essv5042971,essv5045152,essv5031986,essv5042365,essv5129525,essv5082701,essv5090782,essv5096806,essv5084113,essv5040580,essv5049782,essv5141322,essv5049230,essv5083181,essv5134544,essv5035914,essv5156542,essv5086030,essv5024219,essv5082416,essv5077455,essv5151485,essv5130714,essv5107344,essv5033380,essv5157707,essv5140002 M 1184 0 37 LOC646813 NA19117,NA19174,NA19307,NA19310,NA19317,NA19321,NA19327,NA19360,NA19380,NA19381,NA19382,NA19384,NA19430,NA19440,NA19446,NA19472,NA19704,NA19705,NA21308,NA21309,NA21352,NA21356,NA21370,NA21379,NA21441,NA21457,NA21478,NA21480,NA21522,NA21583,NA21613,NA21620,NA21631,NA21682,NA21683,NA21768,NA21784 nsv897527 11 50282317 50332876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504315 S 6533 1 0 LOC646813 SP52409 dgv1140n71 11 50282317 51297186 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897531,nsv897535,nsv897549,nsv897550,nsv897545,nsv897533 M 6533 14 0 LOC646813,OR4A5 IS30206,IS32322,IS32888,IS32918,IS33178,IS34005,IS34407,IS35007,IS38176,IS41410,IS41634,MS11726,MS19736,SP55992 nsv832150 11 50285670 50444161 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449181 S 95 1 0 LOC646813 nsv818820 11 50288640 50335541 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416178,nssv1416179 M 112 2 0 LOC646813 NA12878,NA12892 esv3918 11 50322441 50323043 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26359 S 1 0 1 Single Asian sample YH "" YH esv2193246 11 50327587 50328019 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552267 S 1 0 1 LOC646813 NA18507 nsv897532 11 50343409 50654023 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565122,nssv1551926 M 6533 1 1 "" IS30368,MS19011 esv271201 11 50356514 50358273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499355,essv2499479,essv2511776,essv2510644,essv2504250,essv2496406,essv2496249,essv2493576,essv2495001,essv2508942,essv2506080,essv2497136,essv2499960,essv2511279,essv2508491,essv2496081,essv2501544,essv2507483,essv2505955,essv2509348,essv2503136,essv2495982,essv2502672,essv2500727,essv2506700,essv2499056,essv2497604,essv2497012,essv2503628 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11994,NA12044,NA18499,NA18501,NA18505,NA18510,NA18511,NA18517,NA18520,NA18522,NA18523,NA18552,NA18558,NA18570,NA18582,NA18603,NA18608,NA18638,NA18861,NA18909,NA18943,NA18961,NA18965,NA18973,NA19108,NA19114,NA19147,NA19190 nsv897534 11 50361715 50548975 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499302 S 6533 1 0 "" SP50159 dgv1141n71 11 50381151 50686878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897536,nsv897540,nsv897541,nsv897539 M 6533 0 4 "" IS30129,IS38379,SP51051,SP54792 dgv140n27 11 50396846 50599126 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467881,nsv467879 M 1557 0 2 "" HGDP00110,HGDP00932 dgv141n27 11 50396846 50599126 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467880,nsv467882 M 1557 2 0 "" HGDP00517,HGDP00576 nsv897537 11 50396846 50669978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574375 S 6533 1 0 "" IS33551 dgv1142n71 11 50396846 51150171 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897544,nsv897543,nsv897538,nsv897548 M 6533 6 0 "" IS33601,MS10123,MS11332,MS12202,MS21833,MS22343 dgv1143n71 11 50431035 51077585 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897547,nsv897552,nsv897556,nsv897558,nsv897542,nsv897561 M 6533 0 6 "" IS31137,IS34820,IS38006,IS40898,IS41768,SP55684 esv28851 11 50432602 50436020 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17098 S 451 1 0 "" NA18861 esv1228344 11 50478705 50478705 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730760 S 2 1 0 "" HuRef dgv1144n71 11 50478883 51084722 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897563,nsv897554,nsv897546,nsv897564,nsv897557,nsv897551,nsv897555 M 6533 7 0 "" IS33162,IS34304,IS40799,MS19486,SP51368,SP52274,SP55295 dgv1145n71 11 50508530 51242470 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897553,nsv897569 M 6533 3 2 "" IS35336,IS40342,MS13095,MS13129,MS13254 dgv1146n71 11 50566118 51313130 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897572,nsv897570,nsv897559 M 6533 0 3 OR4A5 IS30245,IS35190,IS41839 nsv897560 11 50568202 50620136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501347 S 6533 0 1 "" SP50973 nsv818821 11 50578631 50669978 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417776,nssv1417777 M 112 1 1 "" NA12234,NA12264 nsv897562 11 50579180 50716666 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503567 S 6533 1 0 "" SP52077 esv1694801 11 50631628 50631628 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061321 S 2 1 0 "" HuRef nsv897566 11 50641517 50722884 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509548,nssv1512057,nssv1519511,nssv1501967,nssv1513696,nssv1504141,nssv1512243,nssv1519287,nssv1517856,nssv1516524,nssv1519482,nssv1519415,nssv1517658,nssv1514009,nssv1515434,nssv1516546,nssv1500020,nssv1518258,nssv1502461,nssv1511899 M 6533 15 5 "" SP50520,SP50963,SP51192,SP52234,SP54822,SP55160,SP55265,SP55355,SP55829,SP55882,SP56196,SP56849,SP56856,SP57341,SP57379,SP57481,SP81003,SP81015,SP81047,SP81067 esv1743136 11 50673870 50673870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047302 S 2 1 0 "" HuRef dgv1148n71 11 50687058 51256773 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897571,nsv897580,nsv897578,nsv897579 M 6533 6 0 "" SP50035,SP50555,SP50604,SP56995,SP57274,SP80992 dgv1149n71 11 50687058 51435661 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897574,nsv897575,nsv897573 M 6533 7 0 OR4A5,OR4C46 MS10350,MS14164,MS20286,SP50775,SP53259,SP55146,SP81106 esv1781548 11 50728742 50728742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943051 S 2 1 0 "" HuRef esv8552 11 50736112 50739856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30993 S 1 0 1 "" SJK nsv897581 11 50950526 51242470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563913 S 6533 0 1 "" IS30129 nsv511475 11 50974043 51035435 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626091 S 1 0 1 "" 1 nsv897582 11 50983665 51435661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600174 S 6533 1 0 OR4A5,OR4C46 IS41853 nsv428255 11 51030382 51194096 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452080 S 62 1 0 "" NA18916 nsv469737 11 51030383 51194096 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649758 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv820973 11 51036702 51054871 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420945 S 1 0 1 "" NA10851 esv29780 11 51037120 51053514 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13538 S 451 36 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv2751029 11 51049400 51420212 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983900,essv6983901,essv6983902 M 771 1 0 OR4A5,OR4C46 BEC_730 nsv897584 11 51057396 51191194 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500532 S 6533 1 0 "" SP50159 nsv897585 11 51057396 51235780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507058 S 6533 0 1 "" SP54467 esv3461 11 51066389 51066851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25902 S 1 0 1 Single Asian sample YH "" YH esv2637114 11 51143851 51147423 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292039 S 1 0 1 "" NA18507 nsv320 11 51146476 51166658 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2865 S 9 1 0 "" NA18555 nsv897586 11 51171349 51313130 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589136 S 6533 1 0 OR4A5 IS38293 nsv820452 11 51197539 51224591 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420947 S 1 0 1 "" NA10851 esv4127 11 51197691 51219710 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26568 S 1 0 1 Single Asian sample YH "" YH esv23223 11 51198010 51219354 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14163,esv17539,esv19305,esv18506,esv13037 M 451 27 9 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv511488 11 51200527 51228612 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626105 S 1 1 0 "" 1 nsv512227 11 51204808 51207389 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624797 S 1 0 1 "" 1 esv2596729 11 51205082 51207706 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260388 S 1 0 1 "" NA18507 esv1958999 11 51205781 51206876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904500 S 1 0 1 "" NA18507 nsv442614 11 51209566 51213821 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv142n27 11 51228612 51385578 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467885,nsv467884 M 1557 2 0 OR4A5,OR4C46 1780854337_A,HGDP01208 nsv832151 11 51234635 51421925 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449182 S 95 0 1 OR4A5,OR4C46 esv4734 11 51423873 51447891 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27175 S 1 0 0 Single Asian sample YH "" YH esv8155 11 51423910 51428705 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30596 S 1 0 1 "" SJK dgv31e19 11 51424047 51437515 CNV Loss Ahn et al 2009 19470904 Sequencing esv6732,esv8625,esv5806 M 1 0 1 "" SJK esv29682 11 51424138 51450673 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13521,esv16880,esv12298 M 451 19 0 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18511,NA18909,NA18916,NA19114 esv6020 11 51428209 51431571 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28461 S 1 0 1 "" SJK esv7349 11 51428783 51447837 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29790 S 1 0 1 "" SJK dgv32e19 11 51428905 51437511 CNV Loss Ahn et al 2009 19470904 Sequencing esv5907,esv6257 M 1 0 1 "" SJK esv7353 11 51429310 51439547 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29794 S 1 0 1 "" SJK nsv436786 11 51430146 51430220 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466656 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv33e19 11 51431275 51437207 CNV Loss Ahn et al 2009 19470904 Sequencing esv6228,esv6663 M 1 0 1 "" SJK esv9424 11 51435181 51436032 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31865 S 1 0 1 "" SJK dgv34e19 11 51437645 51447884 CNV Loss Ahn et al 2009 19470904 Sequencing esv9038,esv6802 M 1 0 1 "" SJK nsv436722 11 51439179 51441511 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466657 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv5589 11 51447212 51449279 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28030 S 1 0 1 "" SJK nsv821285 11 54450844 54784879 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420948 S 1 1 0 "" NA10851 esv27386 11 54450844 54795083 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19601,esv12589,esv18064,esv14322,esv17591 M 451 35 3 TRIM48 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv442615 11 54458221 54514519 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2751030 11 54592199 55636002 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986364,essv6983189,essv6983190 M 771 1 0 LOC440041,OR10AG1,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5L1,OR5L2,OR5W2,OR7E5P,OR8H2,OR8I2,SPRYD5,TRIM48 BEC_552 nsv508631 11 54599360 54787236 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618722,nssv618728 M 4 0 1 TRIM48 NA10860 nsv524091 11 54631614 55279125 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699964 S 2026 1 0 LOC440041,OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,TRIM48 esv6720 11 54651480 54656340 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29161 S 1 0 1 "" SJK esv2566690 11 54670446 54676541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365011 S 1 0 1 "" NA18507 esv7869 11 54705055 54705430 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30310 S 1 0 1 "" SJK esv8399 11 54706949 54708509 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30840 S 1 0 1 "" SJK esv8294 11 54708216 54739519 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30735 S 1 0 1 "" SJK nsv511469 11 54718261 54782736 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626084 S 1 0 1 "" 1 nsv442616 11 54722184 54793048 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TRIM48 esv2421639 11 54725242 54793048 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158768,essv5075754,essv5092782,essv5035422,essv5074392,essv5007309,essv5145206,essv5078775,essv5034707,essv5147918,essv5153887,essv5034694,essv5142506,essv5048322,essv5043266,essv5139951,essv5039236,essv5109524,essv5160619,essv5102508,essv5035202,essv5110641,essv5130284,essv5125509,essv5002647,essv5040245,essv5114809,essv5029619,essv5151939,essv5006589,essv5097306,essv5014975,essv5148122,essv5102388,essv5131021,essv5135156,essv5068488,essv5031283,essv5040672,essv5052268,essv5036031,essv5092482,essv5145002,essv5153791,essv5058170,essv5111602,essv5033321,essv5067923,essv5008105,essv5019025,essv5026480,essv5100947,essv5082805,essv5151739,essv5028308,essv5049023,essv5108786,essv5088181,essv5007350,essv5073847,essv5028491,essv5059049,essv5047585,essv5028371,essv5015104,essv5139737,essv5074146,essv5055771,essv5018159,essv5039800,essv5122909,essv5032239,essv5017983,essv5017652,essv5066844,essv5145910,essv5045033,essv5161116,essv5113442,essv5043871,essv5008193,essv5110045,essv5092125,essv5027953,essv5048327,essv5032514,essv5042520,essv5079725,essv5016624,essv5054835,essv5032058,essv5020625,essv5059112,essv5060035,essv5026071,essv5118399,essv5020923,essv5020008,essv5076665,essv5049597,essv5099460,essv5076832,essv5155705,essv5107164,essv5095008,essv5037638,essv5080280,essv5117106,essv5145468,essv5019611,essv5046482,essv5136750,essv5082192,essv5125951,essv5067027,essv5006984,essv5009915,essv5094927,essv5037997,essv5013899,essv5108103,essv5033642,essv5127706,essv5086854,essv5005182,essv5137758,essv5014460,essv5083110,essv5106337,essv5144997,essv5093090,essv5161075,essv5078242,essv5060902,essv5148131,essv5071765,essv5126925,essv5021918,essv5018791,essv5091931,essv5107279,essv5026498,essv5101153,essv5140497,essv5032366,essv5137196,essv5049269,essv5057659,essv5049695,essv5161159,essv5056258,essv5125067,essv5100688,essv5083265,essv5033839,essv5011262,essv5102119,essv5105116,essv5039815,essv5054158,essv5088097,essv5144642,essv5059693,essv5060780,essv5150755,essv5153217,essv5032158,essv5102730,essv5109242,essv5067753,essv5133570,essv5120517,essv5010625,essv5011554,essv5009916,essv5008810,essv5076921,essv5076894,essv5092677,essv5134026,essv5117608,essv5062721,essv5112356,essv5054948,essv5153332,essv5099406,essv5105547,essv5055686,essv5067091,essv5130151,essv5122880,essv5056277,essv5075277,essv5115462,essv5041756,essv5134150,essv5072348,essv5109574,essv5008868,essv5081620,essv5105426,essv5008767,essv5083877,essv5142938,essv5094114,essv5007496,essv5084042,essv5080584,essv5037669,essv5063962,essv5152460,essv5105192,essv5053730,essv5154897,essv5060490,essv5021692,essv5099068,essv5080826,essv5050063,essv5067631,essv5141653,essv5077170,essv5125930,essv5056734,essv5078669,essv5062073,essv5035704,essv5075563,essv5104568,essv5120168,essv5095715,essv5124370,essv5068285,essv5131752,essv5051875,essv5068322,essv5096423,essv5102283,essv5094460,essv5116116,essv5103843,essv5021061,essv5035729,essv5052100,essv5156373,essv5011923,essv5082046,essv5077235,essv5107238,essv5032069,essv5074564,essv5160514,essv5059739,essv5013261,essv5110198,essv5029161,essv5108031,essv5016063,essv5050693,essv5135395,essv5123906,essv5058261,essv5098791,essv5052915,essv5086397,essv5010602,essv5104049,essv5081815,essv5048391,essv5076958,essv5033579,essv5032495,essv5039929,essv5076290,essv5030402,essv5072402,essv5122495,essv5032572,essv5139271,essv5123303,essv5073106,essv5107851,essv5103838,essv5113389,essv5015786,essv5077615,essv5015086,essv5137127,essv5101170,essv5066262,essv5050518,essv5069205,essv5130049,essv5104829,essv5090337,essv5114450,essv5086056,essv5133518,essv5051543,essv5131914,essv5067998,essv5102224,essv5099644 M 1184 0 303 TRIM48 NA06986,NA06993,NA07357,NA10835,NA10839,NA10843,NA10859,NA11843,NA11882,NA11892,NA11919,NA11994,NA12005,NA12044,NA12249,NA12264,NA12272,NA12273,NA12347,NA12375,NA12386,NA12399,NA12767,NA12777,NA12843,NA12872,NA17962,NA17965,NA17967,NA17968,NA17970,NA17979,NA17980,NA17982,NA17983,NA17986,NA17987,NA17995,NA17996,NA17997,NA18105,NA18106,NA18107,NA18112,NA18117,NA18127,NA18129,NA18131,NA18135,NA18136,NA18139,NA18141,NA18143,NA18144,NA18146,NA18147,NA18151,NA18155,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18499,NA18501,NA18503,NA18505,NA18511,NA18515,NA18517,NA18520,NA18534,NA18544,NA18546,NA18552,NA18555,NA18558,NA18562,NA18566,NA18570,NA18579,NA18582,NA18594,NA18595,NA18599,NA18603,NA18605,NA18608,NA18613,NA18614,NA18618,NA18620,NA18623,NA18628,NA18631,NA18632,NA18634,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18643,NA18645,NA18674,NA18685,NA18694,NA18696,NA18702,NA18749,NA18855,NA18857,NA18861,NA18863,NA18909,NA18911,NA18939,NA18943,NA18947,NA18954,NA18955,NA18957,NA18960,NA18961,NA18962,NA18963,NA18965,NA18966,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18987,NA18990,NA18994,NA18995,NA18999,NA19001,NA19056,NA19057,NA19062,NA19064,NA19066,NA19072,NA19076,NA19077,NA19078,NA19081,NA19083,NA19084,NA19085,NA19086,NA19095,NA19097,NA19099,NA19108,NA19131,NA19159,NA19176,NA19179,NA19180,NA19197,NA19198,NA19199,NA19210,NA19211,NA19214,NA19215,NA19221,NA19222,NA19224,NA19226,NA19371,NA19391,NA19428,NA19439,NA19451,NA19469,NA19470,NA19654,NA19670,NA19671,NA19675,NA19677,NA19678,NA19683,NA19684,NA19686,NA19708,NA19712,NA19755,NA19757,NA19773,NA19776,NA19789,NA19790,NA19795,NA19796,NA20281,NA20284,NA20288,NA20319,NA20332,NA20341,NA20363,NA20364,NA20502,NA20506,NA20516,NA20527,NA20528,NA20531,NA20752,NA20755,NA20756,NA20759,NA20761,NA20765,NA20771,NA20778,NA20792,NA20805,NA20807,NA20809,NA20826,NA20828,NA20847,NA20849,NA20851,NA20852,NA20856,NA20858,NA20859,NA20861,NA20874,NA20876,NA20879,NA20881,NA20882,NA20887,NA20889,NA20890,NA20892,NA20894,NA20899,NA20901,NA20902,NA20903,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21094,NA21097,NA21101,NA21102,NA21103,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21116,NA21117,NA21118,NA21119,NA21123,NA21142,NA21144,NA21311,NA21314,NA21317,NA21357,NA21362,NA21365,NA21366,NA21367,NA21420,NA21440,NA21448,NA21486,NA21523,NA21524,NA21526,NA21527,NA21580,NA21596,NA21608,NA21615,NA21616,NA21722,NA21784 esv2422129 11 54726437 54738787 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091401,essv5006601,essv5009970,essv5139319,essv5102114,essv5091690,essv5091712,essv5055051,essv5114247,essv5112612,essv5118179,essv5126295,essv5096879,essv5087738,essv5036404,essv5040125,essv5075770,essv5104619,essv5015761,essv5082422,essv5144955,essv5023362,essv5081083,essv5042387,essv5155128,essv5077056,essv5104745,essv5028758,essv5058699,essv5121355,essv5108811,essv5031183,essv5120345,essv5115758,essv5016445,essv5080841,essv5050391,essv5035280,essv5064808,essv5069120,essv5034819,essv5094336,essv5118257,essv5125088,essv5054780,essv5157924,essv5148030,essv5141543,essv5126574,essv5068767,essv5114397,essv5049682,essv5157484,essv5144377,essv5009497,essv5044021,essv5063219,essv5076854,essv5072760,essv5073891,essv5148148,essv5090502,essv5128413,essv5111744,essv5084866,essv5030439,essv5050117,essv5050437,essv5067580,essv5105767,essv5066960,essv5015596,essv5156673,essv5123458,essv5083206,essv5108200,essv5115992,essv5031579,essv5005780,essv5108053,essv5121952,essv5159061,essv5010434,essv5135932,essv5098009,essv5123046,essv5087792,essv5137475,essv5142805,essv5142627,essv5082756,essv5103781,essv5066219,essv5042579,essv5031285,essv5117013,essv5144950,essv5036943,essv5132833,essv5064059,essv5102924,essv5153899,essv5125195,essv5155060,essv5004018,essv5032498,essv5111066,essv5006438,essv5103078,essv5065916,essv5094709,essv5134896,essv5086190,essv5130576,essv5075046,essv5023757,essv5054040,essv5133027,essv5149222,essv5061486,essv5155383,essv5109224,essv5027226,essv5047767,essv5022942,essv5069643,essv5082451,essv5077364,essv5085687,essv5018645,essv5127068,essv5038467,essv5115290,essv5017710,essv5159480,essv5103540,essv5137738,essv5082166,essv5046424,essv5109860,essv5007492,essv5035518,essv5149457,essv5136011,essv5159000,essv5010068,essv5104800,essv5037275,essv5094212,essv5147725,essv5069138,essv5061452,essv5140635,essv5066244,essv5137301,essv5003439,essv5043983,essv5044197,essv5150152,essv5066701,essv5080207,essv5135913,essv5100305,essv5018545,essv5008902,essv5068043,essv5096580,essv5097939,essv5019731,essv5009478,essv5068120,essv5032732,essv5036169,essv5158266,essv5060593,essv5064394,essv5135126,essv5066050,essv5066436,essv5120783,essv5101643,essv5011969,essv5028686,essv5097895,essv5021701,essv5033133,essv5091472,essv5078566,essv5041457,essv5126467,essv5132827,essv5110053,essv5015530,essv5052952,essv5144158,essv5096015,essv5143431,essv5066112,essv5116677,essv5031667,essv5014355,essv5141537,essv5101283,essv5048720,essv5067654,essv5013096,essv5098959,essv5104377,essv5047734,essv5133569,essv5012505,essv5057195,essv5009646,essv5090462,essv5120051,essv5106902,essv5115561,essv5081733,essv5013694,essv5086447,essv5151731,essv5008947,essv5053097,essv5021314,essv5140082,essv5092492,essv5008159,essv5013853,essv5134133,essv5015550,essv5077145,essv5136577,essv5069901,essv5010766,essv5054444,essv5150833,essv5131231,essv5117688,essv5064334,essv5081926,essv5041989,essv5080651,essv5128986,essv5126816,essv5021813,essv5136738,essv5151885,essv5015009,essv5082378,essv5134666,essv5143611,essv5100028,essv5129201,essv5099290,essv5057326,essv5029019,essv5068679,essv5039145,essv5156919,essv5042622,essv5146506,essv5010443,essv5069307,essv5146924,essv5127363,essv5031094,essv5060145,essv5116205,essv5101988,essv5033426,essv5016473,essv5151341,essv5022794,essv5050447,essv5128299,essv5158102,essv5121055,essv5107050,essv5152320,essv5023049,essv5043180,essv5041281,essv5097384,essv5104471,essv5160760,essv5098071,essv5102555,essv5126973,essv5029675,essv5032617,essv5143383,essv5016612,essv5089389,essv5139821,essv5010871,essv5128420 M 1184 0 296 "" NA06993,NA07357,NA10835,NA10839,NA10843,NA10859,NA11843,NA11882,NA11892,NA11919,NA11994,NA12005,NA12044,NA12249,NA12264,NA12273,NA12347,NA12375,NA12386,NA12767,NA12777,NA12843,NA12872,NA17962,NA17965,NA17967,NA17968,NA17970,NA17972,NA17979,NA17980,NA17982,NA17983,NA17986,NA17987,NA17995,NA17996,NA17997,NA18105,NA18106,NA18107,NA18109,NA18112,NA18117,NA18127,NA18129,NA18131,NA18135,NA18136,NA18139,NA18141,NA18143,NA18144,NA18146,NA18147,NA18151,NA18155,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18499,NA18501,NA18503,NA18505,NA18511,NA18515,NA18517,NA18520,NA18534,NA18544,NA18546,NA18552,NA18555,NA18558,NA18562,NA18566,NA18570,NA18579,NA18582,NA18594,NA18595,NA18599,NA18603,NA18605,NA18608,NA18613,NA18614,NA18618,NA18620,NA18623,NA18628,NA18631,NA18632,NA18634,NA18636,NA18637,NA18638,NA18639,NA18642,NA18643,NA18645,NA18674,NA18685,NA18694,NA18696,NA18702,NA18745,NA18749,NA18855,NA18857,NA18861,NA18863,NA18909,NA18911,NA18939,NA18943,NA18947,NA18954,NA18955,NA18957,NA18960,NA18961,NA18962,NA18963,NA18965,NA18966,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18987,NA18990,NA18994,NA18995,NA18999,NA19001,NA19056,NA19057,NA19062,NA19064,NA19066,NA19072,NA19076,NA19077,NA19078,NA19081,NA19083,NA19084,NA19085,NA19086,NA19095,NA19096,NA19097,NA19099,NA19108,NA19131,NA19159,NA19176,NA19179,NA19180,NA19197,NA19198,NA19199,NA19210,NA19211,NA19214,NA19221,NA19222,NA19224,NA19226,NA19371,NA19391,NA19428,NA19439,NA19451,NA19469,NA19470,NA19654,NA19670,NA19671,NA19675,NA19677,NA19678,NA19683,NA19684,NA19686,NA19708,NA19712,NA19755,NA19757,NA19773,NA19776,NA19789,NA19795,NA19796,NA20281,NA20284,NA20288,NA20332,NA20341,NA20363,NA20364,NA20502,NA20506,NA20516,NA20527,NA20528,NA20531,NA20752,NA20755,NA20756,NA20759,NA20761,NA20765,NA20771,NA20774,NA20778,NA20792,NA20805,NA20807,NA20809,NA20826,NA20828,NA20847,NA20849,NA20851,NA20852,NA20856,NA20858,NA20859,NA20861,NA20876,NA20879,NA20881,NA20882,NA20887,NA20889,NA20890,NA20892,NA20894,NA20899,NA20901,NA20902,NA20903,NA20908,NA20909,NA20910,NA21086,NA21088,NA21097,NA21101,NA21102,NA21103,NA21105,NA21107,NA21108,NA21111,NA21112,NA21113,NA21116,NA21117,NA21118,NA21119,NA21123,NA21142,NA21144,NA21311,NA21314,NA21317,NA21357,NA21362,NA21365,NA21366,NA21367,NA21420,NA21448,NA21486,NA21523,NA21524,NA21526,NA21527,NA21580,NA21596,NA21608,NA21615,NA21616,NA21722,NA21784 nsv832152 11 54747038 54838707 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449186,nssv1449185 M 95 1 1 LOC440041,TRIM48 esv1469113 11 54750559 54750901 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045277 S 2 0 1 "" HuRef esv6287 11 54769203 54769568 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28728 S 1 0 1 "" SJK nsv321 11 54785343 54827835 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1937 S 9 0 1 LOC440041,TRIM48 NA18555 nsv512228 11 54788148 54795404 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624798 S 1 0 1 TRIM48 1 esv8902 11 54788166 54795116 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31343 S 1 0 1 TRIM48 SJK nsv498756 11 54788175 54795121 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586494 S 9 0 1 TRIM48 esv1312018 11 54797332 54797332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270337 S 2 1 0 "" HuRef esv1533315 11 54797486 54797486 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011538 S 2 1 0 "" HuRef nsv832153 11 54824911 54999407 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449187 S 95 0 1 OR4A15,OR4A16 nsv435630 11 54831178 54837969 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466658 S 2 0 1 "" NA15510 dgv68n21 11 54840010 54913010 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528911,nsv522655 M 2026 0 2 OR4A15,OR4A16 nsv467886 11 54840010 55165276 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543024 S 1557 1 0 OR4A15,OR4A16,OR4C11,OR4C15,OR4C16,OR4P4 1780854337_A esv998925 11 54841341 54953054 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570470 S 3 0 1 OR4A15,OR4A16 HuRef nsv825891 11 54849442 54904983 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439136 S 31 0 1 OR4A15,OR4A16 NA18973 esv2751031 11 54878282 55097329 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987983,essv6989249,essv6981565,essv6981566,essv6987984 M 771 0 1 OR4A15,OR4C15,OR4C16 BEC_301 nsv8825 11 54905945 54908056 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20115 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv821668 11 54910506 55573404 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421242 S 31 0 1 OR10AG1,OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5AS1,OR5D13,OR5D14,OR5D16,OR5D18,OR5F1,OR5I1,OR5L1,OR5L2,OR5W2,OR7E5P,SPRYD5 nsv524882 11 54910725 54929069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700888 S 2026 0 1 "" nsv518225 11 54928253 55165276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695649 S 2026 0 1 OR4C11,OR4C15,OR4C16,OR4P4 esv33769 11 54940302 55015267 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101262 S 51 0 1 "" 21618 nsv8826 11 54969740 54979633 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23639,nssv22602,nssv20857,nssv20858,nssv20245,nssv22997 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155,NA18502,NA18860,NA18980,NA19132 dgv376e1 11 54978996 55268838 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19578,essv21821 M 271 0 0 OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2 NA11839,NA12864 esv782 11 54978996 55394688 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 dgv12n68 11 54979003 55189242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832154,nsv832155 M 95 0 3 OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2 esv2751032 11 55033178 55112298 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989979,essv6984542 M 771 0 1 OR4C15,OR4C16 BEC_717 esv274086 11 55045921 55046380 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580220,essv2580397,essv2580043,essv2580607,essv2579237,essv2579650 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 dgv377e1 11 55073652 55268838 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv28,essv5099,essv3472,essv567,essv4545,essv921,essv11623,essv17565,essv6312,essv15899,essv10123,essv20181,essv7115,essv9202,essv5294,essv12257,essv23802,essv19461,essv1728,essv21031,essv20023,essv9676,essv22861,essv13010,essv23967,essv24992,essv6187,essv5508,essv17979,essv451,essv4475,essv780,essv24692,essv15072,essv177,essv348 M 271 0 0 OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2 NA06991,NA07048,NA10839,NA11829,NA11832,NA11840,NA12003,NA12760,NA12762,NA12763,NA12814,NA18524,NA18532,NA18537,NA18552,NA18577,NA18609,NA18624,NA18632,NA18859,NA18913,NA18952,NA18956,NA18968,NA18971,NA18991,NA18992,NA18997,NA18998,NA19000,NA19101,NA19128,NA19129,NA19130,NA19154,NA19223 nsv428256 11 55073652 55378460 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452083,nssv452084 M 62 0 2 OR4C11,OR4C15,OR4C16,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 NA18916,NA19225 esv273542 11 55077050 55077297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584048,essv2583498 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271966 11 55077050 55077333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557923,essv2575958,essv2546424,essv2526194,essv2570872,essv2523313,essv2576737,essv2535191,essv2554240,essv2544418,essv2552213,essv2520612,essv2547145,essv2558381,essv2564664,essv2577721,essv2565384,essv2530567,essv2552797,essv2570260,essv2553221,essv2535658,essv2559350,essv2566976,essv2533454,essv2555551,essv2573938,essv2525652,essv2526961,essv2524097,essv2571206,essv2574177,essv2551323,essv2536089 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA11830,NA11881,NA11918,NA11993,NA12004,NA12154,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12812,NA12873,NA18542,NA18593,NA18605,NA18608,NA18638,NA18853,NA18944,NA18945,NA18951,NA18980,NA19005,NA19129,NA19238,NA19240,NA19257 nsv522846 11 55079115 55152617 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698499 S 2026 1 0 OR4C11,OR4C15,OR4C16 dgv4e49 11 55092454 55210062 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis essv101805,essv101813,essv101801,essv101812 M 270 0 4 OR4C11,OR4C16,OR4C6,OR4P4,OR4S2 NA18550,NA18564,NA19137,NA19138 dgv378e1 11 55096278 55209410 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24543,essv25144,essv20840,essv14220,essv20821 M 271 0 0 OR4C11,OR4C16,OR4C6,OR4P4,OR4S2 NA10855,NA11829,NA11831,NA11839,NA18913 dgv379e1 11 55096405 55176235 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17694,essv598 M 271 0 0 OR4C11,OR4C16,OR4P4,OR4S2 NA10835,NA18947 dgv143n27 11 55096405 55204003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467887,nsv467888 M 1557 0 2 OR4C11,OR4C16,OR4C6,OR4P4,OR4S2 1780862071_A,HGDP00106 nsv517440 11 55096955 55360988 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665554,nssv685510,nssv680593,nssv671906,nssv661219,nssv684750,nssv687847,nssv654639,nssv689569,nssv660610,nssv670797,nssv674269,nssv676501,nssv683704,nssv652758,nssv701053,nssv681210,nssv685008,nssv674247,nssv681822,nssv681734,nssv675539,nssv689827,nssv681097,nssv681952,nssv661064,nssv693542,nssv676372,nssv692604,nssv677690,nssv688255,nssv667768,nssv692024,nssv677587,nssv665703,nssv652378,nssv687838,nssv657108,nssv659099,nssv682824,nssv685939,nssv654946,nssv674524,nssv655519,nssv669271,nssv677609,nssv686671,nssv686859,nssv669048,nssv678502,nssv692324,nssv666586,nssv660987,nssv679041,nssv685196,nssv654750,nssv687809,nssv688102,nssv670023,nssv693827,nssv684710,nssv663793,nssv657736,nssv657575,nssv690882,nssv660485,nssv692143,nssv658591,nssv692444,nssv667222,nssv665915,nssv687574,nssv659815,nssv666093,nssv685395,nssv668579,nssv654663,nssv656944,nssv688149,nssv693278,nssv663439,nssv669089,nssv665513,nssv652955,nssv651974,nssv670982,nssv663146,nssv665835,nssv658850,nssv653566,nssv670414,nssv662264,nssv687204,nssv663697,nssv675626,nssv658967,nssv652574,nssv673865,nssv692187,nssv681639,nssv660647,nssv655643,nssv654491,nssv690586,nssv655023,nssv676000,nssv688903,nssv668401,nssv661594,nssv670090,nssv693715,nssv682196,nssv693144,nssv678165,nssv661137,nssv678771,nssv660731,nssv673632,nssv657609,nssv693563,nssv687652,nssv659935,nssv661896,nssv668948,nssv682953,nssv655204,nssv672366,nssv665008,nssv655729,nssv689851,nssv681031,nssv674299,nssv659009,nssv668345,nssv670951,nssv687000,nssv676731,nssv674019,nssv688501,nssv691291,nssv662709,nssv660864,nssv663355,nssv677085,nssv655275,nssv653134,nssv653881,nssv668661,nssv660052,nssv689033,nssv685347,nssv682999,nssv663773,nssv659141,nssv683683,nssv676892,nssv660467,nssv678589,nssv657546,nssv668894,nssv661940,nssv662103,nssv676464,nssv681478,nssv683273,nssv669236,nssv693869,nssv661708,nssv693487,nssv669421,nssv689197,nssv691666,nssv687788,nssv669922,nssv672561,nssv672065,nssv676570,nssv681017,nssv690994,nssv666119,nssv666336,nssv675401,nssv664913,nssv683332,nssv660583,nssv674742,nssv665645,nssv659155,nssv687631,nssv655058,nssv684881,nssv653964,nssv677720,nssv669620,nssv682127,nssv668842,nssv671604,nssv665304,nssv662855,nssv673063,nssv683044,nssv677383,nssv656443,nssv680010,nssv687021,nssv692832,nssv672789,nssv667196,nssv684485,nssv673264,nssv684521,nssv680992,nssv663640,nssv658592,nssv666731,nssv661585,nssv664402,nssv688856,nssv656456,nssv670368,nssv652391,nssv693325,nssv679891,nssv664773,nssv657339,nssv665037,nssv689809,nssv669994,nssv666314,nssv686660,nssv680584,nssv679868,nssv670582,nssv680371,nssv676543,nssv656243,nssv667837,nssv657527,nssv682725,nssv677212,nssv659081,nssv693396,nssv692252,nssv683395,nssv684819,nssv675206,nssv703353,nssv685901,nssv679397,nssv657712,nssv677184,nssv678428,nssv679869,nssv675331,nssv676604,nssv659656,nssv673443,nssv679351,nssv668074,nssv656244,nssv685771,nssv680695,nssv688989,nssv679268,nssv684730,nssv673369,nssv656200,nssv681098,nssv677371,nssv658278,nssv679137,nssv660156,nssv690711,nssv669844,nssv684470,nssv688544,nssv655582,nssv682862,nssv686942,nssv659554,nssv672154,nssv656300,nssv679333,nssv689121,nssv655355,nssv653185,nssv670832,nssv659605,nssv684005,nssv668168,nssv654421,nssv661976,nssv691970,nssv664376,nssv658106,nssv666070,nssv675254,nssv679821,nssv692051,nssv658345,nssv667310,nssv658748,nssv681247,nssv657834,nssv666890,nssv677170,nssv657833,nssv677650,nssv664079,nssv654373,nssv667516,nssv652684,nssv666027,nssv670686,nssv680907,nssv688357,nssv692775,nssv660351,nssv676291,nssv678662,nssv684612,nssv659588,nssv671961,nssv658733,nssv675827,nssv670709,nssv674675,nssv691246,nssv658610,nssv683665,nssv657899,nssv669187,nssv688241,nssv666965,nssv663370,nssv693625,nssv682043,nssv665761,nssv667616,nssv671867,nssv653327,nssv652130,nssv687905,nssv672436,nssv679370,nssv656742,nssv672653,nssv674330,nssv657912,nssv692275,nssv669593,nssv662573,nssv666689,nssv668097,nssv664305,nssv670729,nssv676128,nssv655986,nssv679059,nssv684797,nssv656002,nssv689965,nssv693131,nssv653425,nssv689088,nssv663021,nssv666745,nssv681967,nssv667891,nssv660288,nssv664331,nssv669169,nssv687343,nssv692356,nssv656878,nssv691604,nssv659217,nssv660170,nssv662421,nssv687148,nssv667046,nssv689165,nssv664276,nssv693848,nssv653457,nssv653945,nssv686441,nssv692957,nssv676843,nssv656114,nssv675494,nssv684206,nssv690322,nssv662507,nssv675441,nssv675193,nssv667375,nssv682535,nssv688021,nssv669469,nssv688791,nssv663814,nssv693738,nssv667704,nssv666202,nssv678044,nssv668611,nssv687191,nssv661380,nssv675594,nssv672066,nssv684345,nssv669958,nssv673703,nssv654046,nssv667703,nssv664605,nssv689892,nssv662376,nssv669031,nssv679689,nssv701879,nssv676252,nssv685288,nssv656651,nssv657378,nssv653278,nssv681273,nssv680106,nssv700597,nssv680664,nssv652809,nssv652759,nssv662977,nssv665576,nssv687748,nssv653658,nssv680034,nssv652342,nssv652277,nssv672999,nssv652706,nssv663537,nssv665860,nssv675866,nssv687955,nssv673918,nssv662399,nssv678997,nssv669210,nssv700828,nssv660210,nssv669447,nssv655706,nssv656037,nssv661036,nssv663120,nssv674770,nssv662464,nssv685177,nssv670063,nssv701052,nssv668698,nssv670993,nssv690338,nssv679941,nssv668470,nssv665114,nssv681905,nssv682429,nssv658528,nssv689354,nssv671584,nssv665543,nssv686892,nssv689061,nssv678879,nssv672520,nssv686562,nssv681664,nssv687927,nssv656257,nssv660428,nssv673819,nssv686332,nssv671684,nssv654799,nssv692930,nssv651904,nssv688217,nssv664424,nssv665987,nssv675143,nssv677786,nssv687128,nssv693458,nssv674193,nssv675665,nssv672547,nssv680166,nssv654252,nssv670189,nssv653671,nssv685158,nssv688325,nssv680140,nssv681968,nssv690124,nssv657131,nssv698709,nssv678291,nssv690547,nssv665079,nssv691569,nssv688632,nssv690000,nssv651976,nssv652092,nssv691153,nssv652548,nssv693675,nssv664547,nssv688391,nssv683505,nssv659448,nssv691499,nssv652338,nssv659352,nssv669828,nssv681936,nssv676631,nssv682695,nssv664561,nssv653721,nssv675692,nssv672979,nssv690527,nssv663663,nssv661827,nssv672012,nssv684064,nssv672128,nssv693428,nssv678694,nssv674045,nssv660884,nssv658468,nssv687557,nssv662134,nssv672346,nssv662650,nssv669049,nssv682254,nssv669639 M 2026 41 513 OR4C11,OR4C16,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D18,OR5L1,OR5L2 nsv323 11 55115601 55226935 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10818,nssv10893 M 9 0 2 OR4C11,OR4C6,OR4P4,OR4S2 NA15510,NA18956 nsv71 11 55115601 55226935 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv71 S 1 0 1 OR4C11,OR4C6,OR4P4,OR4S2 NA15510 nsv437717 11 55116232 55363269 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467598 S 60 0 1 Samples from several populations that are part of the HapMap project. OR4C11,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 NA19211 nsv469957 11 55116789 55204002 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546111,nssv546112,nssv546110,nssv546114,nssv546113 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR4C11,OR4C6,OR4P4,OR4S2 HGDP01033,HGDP01303,HGDP01304,HGDP01323,HGDP01326 nsv818824 11 55116789 55204003 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415908 S 112 1 0 OR4C11,OR4C6,OR4P4,OR4S2 NA11994 dgv144n27 11 55116789 55217364 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv467898,nsv468119,nsv468143,nsv468337,nsv467956,nsv468379,nsv468456,nsv468447,nsv468065,nsv467896,nsv467892,nsv468213,nsv468062,nsv467970,nsv468214,nsv467889,nsv467891,nsv467986,nsv467984,nsv468070,nsv468274,nsv467978,nsv467940,nsv468102,nsv468239,nsv468376,nsv468407,nsv468343,nsv468499,nsv467897,nsv468226,nsv468298,nsv468413,nsv468352,nsv468552,nsv468210,nsv468137,nsv468241,nsv467893,nsv468153,nsv468544,nsv468152,nsv468197,nsv468288,nsv468445,nsv468368,nsv468262,nsv467890,nsv467895 M 1557 49 0 OR4C11,OR4C6,OR4P4,OR4S2 1780854129_A,1780854294_A,1780854325_A,1780862007_A,1780862066_A,1780862402_A,1780862408_A,1780862452_A,1798860371_A,1798860570_A,HGDP00341,HGDP00372,HGDP00433,HGDP00511,HGDP00520,HGDP00618,HGDP00670,HGDP00727,HGDP00736,HGDP00746,HGDP00759,HGDP00769,HGDP00773,HGDP00791,HGDP00881,HGDP00914,HGDP00917,HGDP00975,HGDP01001,HGDP01018,HGDP01021,HGDP01062,HGDP01103,HGDP01152,HGDP01157,HGDP01212,HGDP01241,HGDP01250,HGDP01273,HGDP01277,HGDP01279,HGDP01329,HGDP01371,NINDS_127,NINDS_240,NINDS_247,NINDS_254,NINDS_256,NINDS_58 dgv145n27 11 55116789 55227570 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468234,nsv468100,nsv468502,nsv468133,nsv468034,nsv468306,nsv468361,nsv468388,nsv468036,nsv468008,nsv468538,nsv467967,nsv468048,nsv468396,nsv468272,nsv468263,nsv468113,nsv468028,nsv468187,nsv468186,nsv468386,nsv467944,nsv468177,nsv468267,nsv468430,nsv468191,nsv468144,nsv467990,nsv468351,nsv468398,nsv468099,nsv468323,nsv468317,nsv468366,nsv468198,nsv468553,nsv468427,nsv468002,nsv468042,nsv468474,nsv468202,nsv467999,nsv468115,nsv468419,nsv468148,nsv468178,nsv468408,nsv467930,nsv468375,nsv468340,nsv468358,nsv468519,nsv468507,nsv468515,nsv467988,nsv468243,nsv468531,nsv467977,nsv468432,nsv468195,nsv467955,nsv468244,nsv468535,nsv468044,nsv468455,nsv468441,nsv468258,nsv468554,nsv468147,nsv468350,nsv468437,nsv468247,nsv467907,nsv467923,nsv468486,nsv468055,nsv468233,nsv468255,nsv468523,nsv468212,nsv468200,nsv468052,nsv468063,nsv468240,nsv468276,nsv468372,nsv468084,nsv468156,nsv468307,nsv468510,nsv468059,nsv468332,nsv468404,nsv468348,nsv468329,nsv467976,nsv468073,nsv468029,nsv468157,nsv468173,nsv468341,nsv468420,nsv468093,nsv468000,nsv467958,nsv468453,nsv468401,nsv468037,nsv468080,nsv468354,nsv468421,nsv468192,nsv468389,nsv468309,nsv468280,nsv468347,nsv468516,nsv468478,nsv468488,nsv468168,nsv468251,nsv468024,nsv468344,nsv468125,nsv468159,nsv468438,nsv468103,nsv468030,nsv467969,nsv468339,nsv468525,nsv468155,nsv468451,nsv468007,nsv468170,nsv468300,nsv468324,nsv468078,nsv467922,nsv467936,nsv468546,nsv467904,nsv467960,nsv468257,nsv468549,nsv468081,nsv468423,nsv468193,nsv468435,nsv467899,nsv468256,nsv468387,nsv468018,nsv468268,nsv467935,nsv467931,nsv468129,nsv468167,nsv468292,nsv468110,nsv468112,nsv468356,nsv468462,nsv468252,nsv468318,nsv468514,nsv467918,nsv468009,nsv468047,nsv468032,nsv468098,nsv467939,nsv468492,nsv468106,nsv468520,nsv468310,nsv468527,nsv468308,nsv468273,nsv467975,nsv468235,nsv468117,nsv468275,nsv467989,nsv468301,nsv468058,nsv468426,nsv468006,nsv468118,nsv468077,nsv468364,nsv468017,nsv468547,nsv468189,nsv468460,nsv468416,nsv468409,nsv467959,nsv468402,nsv468219,nsv468425,nsv467906,nsv468184,nsv468335,nsv468269,nsv468518,nsv468163,nsv468196,nsv467980,nsv468504,nsv468463,nsv468120,nsv468067,nsv468242,nsv468050,nsv468342,nsv468124,nsv468011,nsv468179,nsv468482,nsv468130,nsv468046,nsv468542,nsv468209,nsv468111,nsv468139,nsv468434,nsv468436,nsv468470,nsv468454,nsv468452,nsv468325,nsv468315,nsv468126,nsv468206,nsv468207,nsv468290,nsv467981,nsv467951,nsv468313,nsv468503,nsv468224,nsv467903,nsv468512,nsv468442,nsv468397,nsv468475,nsv468433,nsv468023,nsv468064,nsv467948,nsv468132,nsv468320,nsv468211,nsv467910,nsv468522,nsv468346,nsv468513,nsv468025,nsv468220,nsv467932,nsv467982,nsv468033,nsv468104,nsv468359,nsv467964,nsv468489,nsv468097,nsv468286,nsv468031,nsv468266,nsv468370,nsv468284,nsv468381,nsv468158,nsv468068,nsv468128,nsv468365,nsv468295,nsv468043,nsv468312,nsv468367,nsv468218,nsv468082,nsv468254,nsv468217,nsv468291,nsv468400,nsv468248,nsv468468,nsv468384,nsv468021,nsv468004,nsv468319,nsv467997,nsv467942,nsv468545,nsv468088,nsv468204,nsv468131,nsv468162,nsv467914,nsv467962,nsv468334,nsv468145,nsv468302,nsv468089,nsv467941,nsv468134,nsv468304,nsv467966,nsv468188,nsv468357,nsv468107,nsv468041,nsv468410,nsv468090,nsv468464,nsv467913,nsv468314,nsv467971,nsv468471,nsv467915,nsv468246,nsv468165,nsv468533,nsv468374,nsv468480,nsv468548,nsv468391,nsv468136,nsv468278,nsv467998,nsv468281,nsv467926,nsv468051,nsv468169,nsv468087,nsv468265,nsv468333,nsv468378,nsv468330,nsv468485,nsv468015,nsv468363,nsv468392,nsv468223,nsv468203,nsv468377,nsv468279,nsv468465,nsv468496,nsv468069,nsv468185,nsv468326,nsv468508,nsv468293,nsv468297,nsv468150,nsv467993,nsv468056,nsv468221,nsv468495,nsv468270,nsv467919,nsv468245,nsv468299,nsv468458,nsv468457,nsv468362,nsv468459,nsv468121,nsv468259,nsv468501,nsv468123,nsv467934,nsv468001,nsv468053,nsv468182,nsv468385,nsv468373,nsv467925,nsv468146,nsv468161,nsv468019,nsv468541,nsv468101,nsv467952,nsv468303,nsv467924,nsv468228,nsv468086,nsv468383,nsv468537,nsv468091,nsv468285,nsv468154,nsv468473,nsv467992,nsv468232,nsv468010,nsv468122,nsv468096,nsv468201,nsv468014,nsv468085,nsv468040,nsv468466,nsv468491,nsv467963,nsv468446,nsv468180,nsv468003,nsv467911,nsv467928,nsv467968,nsv468405,nsv468444,nsv468403,nsv468250,nsv467937,nsv468035,nsv468440,nsv468045,nsv468075,nsv468012,nsv467974,nsv468422,nsv468190,nsv468287,nsv468415,nsv468443,nsv467909,nsv467933,nsv467902,nsv468199,nsv467908,nsv468328,nsv468477,nsv468526,nsv468551,nsv468022,nsv468071,nsv468493,nsv468311,nsv468448,nsv468215,nsv468026,nsv468057,nsv468521,nsv468230,nsv468222,nsv468261,nsv468164,nsv468174,nsv468509,nsv467965,nsv468135,nsv468140,nsv467979,nsv468487,nsv468449,nsv468095,nsv468225,nsv468530,nsv467991,nsv468013,nsv468151,nsv467920,nsv468431,nsv467985,nsv468141,nsv467995,nsv468336,nsv468109,nsv467917,nsv468412,nsv468236,nsv468181,nsv468469,nsv468536,nsv468114,nsv467996,nsv468322,nsv468066,nsv468429,nsv468175,nsv468345,nsv467947,nsv468208,nsv468532,nsv467954,nsv468054,nsv467943,nsv468142,nsv467957,nsv468484,nsv468108,nsv467945,nsv468467,nsv468079,nsv468092,nsv468380,nsv468498,nsv468497,nsv468399,nsv468534,nsv468355,nsv468264,nsv468296,nsv468237,nsv468424,nsv468414,nsv468543,nsv468331,nsv468229,nsv468166,nsv468253,nsv468524,nsv467921,nsv467929,nsv468020,nsv468289,nsv467973,nsv468511,nsv468353,nsv468411,nsv468390,nsv468476,nsv468039,nsv468540,nsv467987,nsv468369,nsv468481,nsv468321,nsv467953,nsv468231,nsv467912,nsv468500,nsv468176,nsv468277,nsv467946,nsv468418,nsv468076,nsv468490,nsv468529,nsv468074,nsv468479 M 1557 0 548 OR4C11,OR4C6,OR4P4,OR4S2 1780846005_A,1780854016_A,1780854017_A,1780854100_A,1780854130_A,1780854158_A,1780854176_A,1780854198_A,1780854210_A,1780854216_A,1780854219_A,1780854302_A,1780854318_A,1780854334_A,1780854336_A,1780854341_A,1780854382_A,1780854392_A,1780854436_A,1780854439_A,1780854444_A,1780854445_A,1780854446_A,1780854462_A,1780854463_A,1780854484_A,1780854485_A,1780854496_A,1780854511_A,1780854533_A,1780854537_A,1780854558_A,1780854567_A,1780854568_A,1780854574_A,1780854592_A,1780862001_A,1780862014_A,1780862020_A,1780862021_A,1780862041_A,1780862043_A,1780862075_A,1780862078_A,1780862080_A,1780862084_A,1780862094_A,1780862100_A,1780862101_A,1780862109_A,1780862125_A,1780862156_A,1780862160_A,1780862161_A,1780862162_A,1780862180_A,1780862229_A,1780862252_A,1780862261_A,1780862274_A,1780862294_A,1780862299_A,1780862300_A,1780862301_A,1780862304_A,1780862334_A,1780862379_A,1780862381_A,1780862388_A,1780862392_A,1780862393_A,1780862394_A,1780862401_A,1780862403_A,1780862404_A,1780862415_A,1780862419_A,1780862424_A,1780862432_A,1780862435_A,1780862437_A,1780862443_A,1780862448_A,1780862461_A,1780862466_A,1780862530_A,1780862539_A,1780862540_A,1780862551_A,1780862554_A,1780862559_A,1780862563_A,1780862565_A,1780862574_A,1780862576_A,1780862584_A,1780862592_A,1780862596_A,1780862597_A,1780862599_A,1782681024_A,1782681080_A,1782681099_A,1782681102_A,1782681109_A,1782681110_A,1782681116_A,1782681144_A,1782681210_A,1782681219_A,1782681263_A,1782681287_A,1782681294_A,1782681317_A,1782681378_A,1782681495_A,1787431166_A,1787431197_A,1798860047_A,1798860049_A,1798860072_A,1798860166_A,1798860251_A,1798860306_A,1798860336_A,1798860552_A,1798860592_A,HGDP00001,HGDP00011,HGDP00013,HGDP00015,HGDP00017,HGDP00019,HGDP00023,HGDP00033,HGDP00035,HGDP00037,HGDP00041,HGDP00047,HGDP00049,HGDP00052,HGDP00054,HGDP00057,HGDP00058,HGDP00060,HGDP00064,HGDP00066,HGDP00080,HGDP00082,HGDP00086,HGDP00088,HGDP00090,HGDP00102,HGDP00105,HGDP00110,HGDP00112,HGDP00118,HGDP00120,HGDP00121,HGDP00124,HGDP00129,HGDP00130,HGDP00131,HGDP00133,HGDP00134,HGDP00135,HGDP00136,HGDP00140,HGDP00141,HGDP00143,HGDP00146,HGDP00150,HGDP00153,HGDP00154,HGDP00155,HGDP00157,HGDP00158,HGDP00160,HGDP00161,HGDP00171,HGDP00183,HGDP00185,HGDP00187,HGDP00189,HGDP00191,HGDP00195,HGDP00197,HGDP00210,HGDP00226,HGDP00237,HGDP00239,HGDP00244,HGDP00258,HGDP00262,HGDP00277,HGDP00279,HGDP00286,HGDP00288,HGDP00290,HGDP00298,HGDP00309,HGDP00315,HGDP00319,HGDP00333,HGDP00336,HGDP00351,HGDP00356,HGDP00359,HGDP00388,HGDP00402,HGDP00423,HGDP00428,HGDP00438,HGDP00445,HGDP00479,HGDP00491,HGDP00515,HGDP00522,HGDP00525,HGDP00526,HGDP00529,HGDP00537,HGDP00541,HGDP00543,HGDP00544,HGDP00548,HGDP00551,HGDP00552,HGDP00553,HGDP00554,HGDP00556,HGDP00558,HGDP00563,HGDP00564,HGDP00567,HGDP00568,HGDP00572,HGDP00574,HGDP00576,HGDP00579,HGDP00583,HGDP00587,HGDP00591,HGDP00594,HGDP00598,HGDP00600,HGDP00604,HGDP00610,HGDP00613,HGDP00615,HGDP00616,HGDP00620,HGDP00621,HGDP00622,HGDP00623,HGDP00624,HGDP00625,HGDP00627,HGDP00629,HGDP00631,HGDP00637,HGDP00642,HGDP00643,HGDP00647,HGDP00654,HGDP00655,HGDP00656,HGDP00662,HGDP00663,HGDP00664,HGDP00672,HGDP00674,HGDP00676,HGDP00679,HGDP00683,HGDP00685,HGDP00694,HGDP00696,HGDP00697,HGDP00699,HGDP00702,HGDP00710,HGDP00711,HGDP00716,HGDP00717,HGDP00720,HGDP00722,HGDP00724,HGDP00725,HGDP00730,HGDP00732,HGDP00741,HGDP00745,HGDP00747,HGDP00748,HGDP00749,HGDP00755,HGDP00756,HGDP00758,HGDP00760,HGDP00761,HGDP00762,HGDP00764,HGDP00766,HGDP00772,HGDP00775,HGDP00778,HGDP00779,HGDP00780,HGDP00781,HGDP00785,HGDP00787,HGDP00790,HGDP00797,HGDP00802,HGDP00806,HGDP00807,HGDP00813,HGDP00814,HGDP00818,HGDP00819,HGDP00820,HGDP00821,HGDP00828,HGDP00837,HGDP00838,HGDP00843,HGDP00845,HGDP00846,HGDP00849,HGDP00852,HGDP00855,HGDP00856,HGDP00857,HGDP00859,HGDP00860,HGDP00861,HGDP00862,HGDP00863,HGDP00864,HGDP00865,HGDP00869,HGDP00872,HGDP00876,HGDP00877,HGDP00882,HGDP00884,HGDP00886,HGDP00889,HGDP00890,HGDP00891,HGDP00898,HGDP00900,HGDP00908,HGDP00909,HGDP00927,HGDP00928,HGDP00930,HGDP00935,HGDP00938,HGDP00952,HGDP00956,HGDP00958,HGDP00959,HGDP00961,HGDP00964,HGDP00969,HGDP00971,HGDP00972,HGDP00973,HGDP00995,HGDP00998,HGDP00999,HGDP01010,HGDP01012,HGDP01027,HGDP01037,HGDP01041,HGDP01043,HGDP01044,HGDP01047,HGDP01050,HGDP01053,HGDP01056,HGDP01057,HGDP01058,HGDP01059,HGDP01063,HGDP01067,HGDP01069,HGDP01071,HGDP01072,HGDP01073,HGDP01076,HGDP01077,HGDP01078,HGDP01096,HGDP01097,HGDP01099,HGDP01100,HGDP01101,HGDP01147,HGDP01164,HGDP01173,HGDP01174,HGDP01177,HGDP01179,HGDP01180,HGDP01184,HGDP01191,HGDP01194,HGDP01195,HGDP01198,HGDP01200,HGDP01201,HGDP01203,HGDP01204,HGDP01205,HGDP01208,HGDP01209,HGDP01213,HGDP01217,HGDP01221,HGDP01226,HGDP01228,HGDP01231,HGDP01234,HGDP01238,HGDP01244,HGDP01245,HGDP01247,HGDP01253,HGDP01258,HGDP01259,HGDP01261,HGDP01262,HGDP01263,HGDP01266,HGDP01267,HGDP01268,HGDP01269,HGDP01271,HGDP01274,HGDP01275,HGDP01282,HGDP01287,HGDP01288,HGDP01289,HGDP01294,HGDP01298,HGDP01302,HGDP01305,HGDP01306,HGDP01307,HGDP01308,HGDP01309,HGDP01312,HGDP01317,HGDP01318,HGDP01319,HGDP01320,HGDP01321,HGDP01322,HGDP01327,HGDP01328,HGDP01331,HGDP01338,HGDP01345,HGDP01347,HGDP01348,HGDP01350,HGDP01351,HGDP01352,HGDP01358,HGDP01359,HGDP01362,HGDP01363,HGDP01366,HGDP01370,HGDP01374,HGDP01376,HGDP01377,HGDP01384,HGDP01385,HGDP01387,HGDP01388,HGDP01400,HGDP01402,NINDS_100,NINDS_101,NINDS_102,NINDS_103,NINDS_105,NINDS_109,NINDS_114,NINDS_115,NINDS_116,NINDS_119,NINDS_124,NINDS_129,NINDS_131,NINDS_134,NINDS_149,NINDS_155,NINDS_160,NINDS_162,NINDS_163,NINDS_17,NINDS_171,NINDS_179,NINDS_192,NINDS_193,NINDS_196,NINDS_203,NINDS_206,NINDS_207,NINDS_211,NINDS_22,NINDS_221,NINDS_222,NINDS_230,NINDS_231,NINDS_232,NINDS_241,NINDS_244,NINDS_246,NINDS_253,NINDS_257,NINDS_259,NINDS_272,NINDS_29,NINDS_3,NINDS_31,NINDS_39,NINDS_4,NINDS_42,NINDS_45,NINDS_65,NINDS_71,NINDS_74,NINDS_76,NINDS_80,NINDS_81,NINDS_87,NINDS_89,NINDS_9,NINDS_97,NINDS_99 dgv146n27 11 55116789 55246953 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468555,nsv467900 M 1557 2 0 OR4C11,OR4C6,OR4P4,OR4S2 HGDP01003,HGDP01296 nsv508632 11 55118150 55204268 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619926 S 4 0 1 OR4C11,OR4C6,OR4P4,OR4S2 NA15510 nsv511485 11 55119531 55186743 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626102 S 1 1 0 OR4C11,OR4P4,OR4S2 1 nsv435950 11 55120813 55188486 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466659 S 2 0 0 OR4C11,OR4P4,OR4S2 NA15510 nsv443003 11 55121094 55214331 CNV Complex Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649527 M 52 OR4C11,OR4C6,OR4P4,OR4S2 dgv12n47 11 55121095 55214327 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498757,nsv498758 M 9 0 2 OR4C11,OR4C6,OR4P4,OR4S2 esv22842 11 55121253 55360166 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16258,esv12024,esv17778,esv21129,esv13959 M 451 1 17 OR4C11,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D18,OR5L1,OR5L2 NA06985,NA11894,NA12006,NA12239,NA12414,NA12776,NA12828,NA12878,NA15510,NA18502,NA18511,NA18861,NA18907,NA18916,NA19129,NA19225,NA19257 nsv825892 11 55123474 55188206 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439877,nssv1428463,nssv1430806 M 31 0 3 OR4C11,OR4P4,OR4S2 AK16,NA18537,NA18968 dgv217n67 11 55123474 55217369 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825894,nsv825893 M 31 0 20 OR4C11,OR4C6,OR4P4,OR4S2 AK12,AK14,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18997,NA18999 nsv8827 11 55123742 55225164 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23725,nssv19876,nssv20118,nssv20013,nssv20275,nssv20447,nssv20134,nssv19836,nssv18352,nssv23667,nssv19736,nssv20145,nssv25286,nssv22632,nssv18281,nssv18040,nssv18395 M 31 1 16 Samples from several populations that are part of the HapMap project. OR4C11,OR4C6,OR4P4,OR4S2 NA07048,NA10839,NA10847,NA10863,NA12802,NA12872,NA18502,NA18537,NA18552,NA18563,NA18564,NA18860,NA18942,NA18980,NA19007,NA19221 esv33874 11 55123743 55209569 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101506,essv98913,essv97550,essv101212,essv93834,essv100872,essv96772,essv101037,essv98214,essv94817,essv94131,essv101307,essv94328,essv97026,essv97824,essv95685,essv95446,essv93073,essv95393,essv97371,essv101731,essv95791,essv94507,essv99107,essv92886,essv92746,essv93766,essv96192,essv96738,essv97178,essv98606,essv100056,essv95978,essv93484,essv93356,essv99653,essv95020,essv92571,essv98114,essv96516,essv99331,essv97685,essv100178,essv100612,essv100450,essv99445,essv98409,essv96416,essv94293 M 51 49 0 OR4C11,OR4C6,OR4P4,OR4S2 21603,21606,21616,21618,21634,21656,21659,21693,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 dgv6n14 11 55124465 55209499 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433267,nsv433516,nsv433268,nsv433517,nsv433266 M 9 0 5 OR4C11,OR4C6,OR4P4,OR4S2 NA12878,NA15510,NA18555,NA18956,NA19129 esv2421634 11 55124465 55209585 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022590,essv5044134,essv5134022,essv5090122,essv5151734,essv5086468,essv5075659,essv5009623,essv5007196,essv5054409,essv5006253,essv5151278,essv5079407,essv5114653,essv5022768,essv5111832,essv5096275,essv5128794,essv5069411,essv5082208,essv5110837,essv5155491,essv5118510,essv5056766,essv5159440,essv5014450,essv5019900,essv5119652,essv5046414,essv5062741,essv5101006,essv5151930,essv5003486,essv5011532,essv5125087,essv5088582,essv5004680,essv5092367,essv5110391,essv5122837,essv5019842,essv5099833,essv5135931,essv5077346,essv5014519,essv5090715,essv5054249,essv5152685,essv5133405,essv5153237,essv5126682,essv5008345,essv5160868,essv5100824,essv5046179,essv5088522,essv5117668,essv5063363,essv5155515,essv5018533,essv5003960,essv5090062,essv5037764,essv5117752,essv5080978,essv5011353,essv5089902,essv5154854,essv5152707,essv5064046,essv5056420,essv5142132,essv5026090,essv5137455,essv5034667,essv5086008,essv5003823,essv5095952,essv5079140,essv5112893,essv5021128,essv5125602,essv5066601,essv5112897,essv5023187,essv5103903,essv5137663,essv5084185,essv5024672,essv5071862,essv5146964,essv5152227,essv5040352,essv5092951,essv5045332,essv5054377,essv5007068,essv5084817,essv5148335,essv5063824,essv5027492,essv5134618,essv5067964,essv5095882,essv5019310,essv5057915,essv5027260,essv5130261,essv5047680,essv5041313,essv5158564,essv5064149,essv5123295,essv5117848,essv5082531,essv5025480,essv5058912,essv5014624,essv5134594,essv5014546,essv5012576,essv5137917,essv5004845,essv5062243,essv5084025,essv5003663,essv5140305,essv5053783,essv5141913,essv5147062,essv5013579,essv5065604,essv5096624,essv5033054,essv5157513,essv5002906,essv5031954,essv5115593,essv5119075,essv5081364,essv5130076,essv5059901,essv5104898,essv5137668,essv5156450,essv5014710,essv5122224,essv5121977,essv5082844,essv5028064,essv5037660,essv5091899,essv5111555,essv5150830,essv5052632,essv5087279,essv5093758,essv5076997,essv5017334,essv5082170,essv5022863,essv5123626,essv5127701,essv5016845,essv5115256,essv5093970,essv5008692,essv5036505,essv5052537,essv5157203,essv5113448,essv5091718,essv5030289,essv5153591,essv5040868,essv5024791,essv5099991,essv5064675,essv5074420,essv5122758,essv5151649,essv5076154,essv5087007,essv5142644,essv5007372,essv5146610,essv5014285,essv5155277,essv5112558,essv5087392,essv5042026,essv5128341,essv5017925,essv5060435,essv5053155,essv5005262,essv5082036,essv5065304,essv5137373,essv5070397,essv5046210,essv5007354,essv5143648,essv5045875,essv5080585,essv5147468,essv5034210,essv5015983,essv5160897,essv5044182,essv5127053,essv5155616,essv5084750,essv5079022,essv5079635,essv5052011,essv5111947,essv5052458,essv5032354,essv5073802,essv5104705,essv5060598,essv5015280,essv5115973,essv5003818,essv5103099,essv5113102,essv5109941,essv5098725,essv5118136,essv5008969,essv5038670,essv5133009,essv5033561,essv5026901,essv5046888,essv5142008,essv5148611,essv5014808,essv5033442,essv5067696,essv5158992,essv5027075,essv5078110,essv5007725,essv5119608,essv5015994,essv5131704,essv5087134,essv5150732,essv5151187,essv5086588,essv5157710,essv5120951,essv5155648,essv5065068,essv5060721,essv5105638,essv5140538,essv5093616,essv5055199,essv5034824,essv5072719,essv5126416,essv5060009,essv5058422,essv5089989,essv5127135,essv5085139,essv5071483,essv5105918,essv5122588,essv5079657,essv5123223,essv5146303,essv5132170,essv5020365,essv5073971,essv5027966,essv5104946,essv5085028,essv5024810,essv5056272,essv5116340,essv5104391,essv5115272,essv5132788,essv5160259,essv5083027,essv5028642,essv5101354,essv5025667,essv5056091,essv5104634,essv5009788,essv5015275,essv5142059,essv5028219,essv5012594,essv5071674,essv5057000,essv5064398,essv5051951,essv5158662,essv5019195,essv5043252,essv5048700,essv5045907,essv5058027,essv5107757,essv5049295,essv5102957,essv5124653,essv5053054,essv5025041,essv5017114,essv5070839,essv5114580,essv5151246,essv5127596,essv5045385,essv5053221,essv5028223,essv5085454,essv5025580,essv5135267,essv5051150,essv5014539,essv5030220,essv5048994,essv5022488,essv5037190,essv5003213,essv5032076,essv5029348,essv5155929,essv5090576,essv5083205,essv5119376,essv5015443,essv5026232,essv5157674,essv5028423,essv5148641,essv5114046,essv5120459,essv5159982,essv5095394,essv5113658,essv5111720,essv5033446,essv5108821,essv5089179,essv5056527,essv5018866,essv5151496,essv5064311,essv5024691,essv5086518,essv5062334,essv5113110,essv5157023,essv5032335,essv5024339,essv5066824,essv5078181,essv5140248,essv5098770,essv5048821,essv5069255,essv5115409,essv5037421,essv5003759,essv5033531,essv5031271,essv5150780,essv5062491,essv5025456,essv5120512,essv5136179,essv5150758,essv5142276,essv5133410,essv5106748,essv5046498,essv5068844,essv5003810,essv5027077,essv5118395,essv5103447,essv5024266,essv5100030,essv5025105,essv5015203,essv5148016,essv5021481,essv5078002,essv5117426,essv5117261,essv5093155,essv5126906,essv5121734,essv5111618,essv5060984,essv5054955,essv5121050,essv5055293,essv5109121,essv5050654,essv5102995,essv5073984,essv5141088,essv5006449,essv5009566,essv5029771,essv5128381,essv5024402,essv5053816,essv5020938,essv5039837,essv5059511,essv5089937,essv5020786,essv5096798,essv5045944,essv5079078,essv5029531,essv5021438,essv5009108,essv5008924,essv5084901,essv5144786,essv5007599,essv5014169,essv5002012,essv5131829,essv5063021,essv5016404,essv5083140,essv5031496,essv5082700,essv5059118,essv5158215,essv5037715,essv5059970,essv5123408,essv5017844,essv5099897,essv5055358,essv5103981,essv5131732,essv5079581,essv5004673,essv5156585,essv5017672,essv5122403,essv5003256,essv5015644,essv5030895,essv5040310,essv5086364,essv5144692,essv5036928,essv5047937,essv5095238,essv5131882,essv5007627,essv5012522,essv5146483,essv5141449,essv5033823,essv5019444,essv5098179,essv5016576,essv5089193,essv5067812,essv5056202,essv5081045,essv5016081,essv5144926,essv5087241,essv5004471,essv5106804,essv5079466,essv5115446,essv5081688,essv5018620,essv5139528,essv5081076,essv5046291,essv5081203,essv5032298,essv5132521,essv5013521,essv5031622,essv5116117,essv5080793,essv5070617,essv5071109 M 1184 0 499 OR4C11,OR4C6,OR4P4,OR4S2 NA06984,NA06985,NA06989,NA06991,NA06994,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10835,NA10836,NA10838,NA10839,NA10843,NA10845,NA10847,NA10850,NA10852,NA10855,NA10863,NA10864,NA11829,NA11831,NA11832,NA11839,NA11840,NA11881,NA11894,NA11917,NA11918,NA11920,NA11930,NA11992,NA12003,NA12006,NA12043,NA12145,NA12234,NA12239,NA12248,NA12275,NA12282,NA12335,NA12336,NA12340,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12383,NA12399,NA12718,NA12748,NA12750,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12802,NA12814,NA12817,NA12827,NA12828,NA12832,NA12843,NA12864,NA12872,NA12873,NA12874,NA12878,NA12891,NA17966,NA17969,NA17974,NA17975,NA17979,NA17980,NA17982,NA17987,NA17988,NA17989,NA17990,NA17993,NA17996,NA17998,NA17999,NA18102,NA18105,NA18109,NA18112,NA18118,NA18120,NA18122,NA18124,NA18125,NA18128,NA18129,NA18131,NA18132,NA18134,NA18138,NA18139,NA18140,NA18141,NA18144,NA18146,NA18148,NA18149,NA18150,NA18151,NA18152,NA18156,NA18157,NA18158,NA18161,NA18162,NA18166,NA18488,NA18500,NA18509,NA18511,NA18524,NA18526,NA18529,NA18532,NA18536,NA18537,NA18543,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18577,NA18582,NA18592,NA18596,NA18597,NA18599,NA18602,NA18609,NA18611,NA18613,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18623,NA18624,NA18626,NA18628,NA18630,NA18631,NA18632,NA18633,NA18635,NA18641,NA18642,NA18643,NA18647,NA18682,NA18689,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18857,NA18859,NA18860,NA18861,NA18868,NA18869,NA18875,NA18910,NA18911,NA18913,NA18916,NA18917,NA18930,NA18933,NA18935,NA18939,NA18940,NA18942,NA18943,NA18946,NA18947,NA18949,NA18952,NA18955,NA18956,NA18960,NA18962,NA18964,NA18965,NA18966,NA18968,NA18971,NA18977,NA18978,NA18979,NA18980,NA18991,NA18993,NA18997,NA18998,NA18999,NA19000,NA19002,NA19005,NA19007,NA19009,NA19010,NA19035,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19065,NA19068,NA19070,NA19074,NA19076,NA19077,NA19078,NA19080,NA19081,NA19085,NA19086,NA19088,NA19101,NA19103,NA19107,NA19113,NA19122,NA19123,NA19128,NA19129,NA19130,NA19137,NA19139,NA19140,NA19142,NA19143,NA19152,NA19154,NA19175,NA19181,NA19183,NA19184,NA19186,NA19193,NA19203,NA19213,NA19215,NA19221,NA19223,NA19235,NA19237,NA19257,NA19258,NA19318,NA19332,NA19375,NA19379,NA19443,NA19448,NA19467,NA19471,NA19625,NA19651,NA19653,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19671,NA19675,NA19676,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19704,NA19711,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19749,NA19750,NA19756,NA19761,NA19770,NA19771,NA19772,NA19777,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19818,NA19901,NA19902,NA19908,NA19914,NA19919,NA20276,NA20277,NA20279,NA20292,NA20294,NA20349,NA20502,NA20504,NA20505,NA20508,NA20509,NA20512,NA20515,NA20518,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20530,NA20535,NA20538,NA20539,NA20540,NA20544,NA20581,NA20582,NA20589,NA20754,NA20758,NA20760,NA20761,NA20766,NA20768,NA20769,NA20772,NA20774,NA20778,NA20783,NA20786,NA20795,NA20796,NA20797,NA20801,NA20804,NA20805,NA20810,NA20811,NA20812,NA20815,NA20816,NA20819,NA20850,NA20853,NA20854,NA20858,NA20862,NA20869,NA20870,NA20872,NA20873,NA20874,NA20875,NA20877,NA20879,NA20883,NA20885,NA20891,NA20892,NA20895,NA20896,NA20897,NA20900,NA20906,NA20907,NA20910,NA21089,NA21091,NA21094,NA21099,NA21104,NA21105,NA21109,NA21117,NA21144,NA21295,NA21300,NA21302,NA21303,NA21307,NA21309,NA21336,NA21339,NA21367,NA21368,NA21382,NA21383,NA21387,NA21390,NA21399,NA21402,NA21404,NA21405,NA21408,NA21414,NA21418,NA21420,NA21421,NA21436,NA21441,NA21442,NA21475,NA21476,NA21485,NA21487,NA21489,NA21490,NA21491,NA21510,NA21512,NA21517,NA21520,NA21529,NA21576,NA21578,NA21582,NA21597,NA21611,NA21613,NA21617,NA21632,NA21634,NA21636,NA21647,NA21648,NA21686,NA21717,NA21733,NA21738,NA21740,NA21741 esv29944 11 55124730 55207364 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84183 S 3 0 1 OR4C11,OR4C6,OR4P4,OR4S2 WATSON nsv825895 11 55125251 55127424 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424442 S 31 0 1 OR4C11 NA18582 nsv469958 11 55127596 55352889 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546151,nssv546137,nssv546144,nssv546130,nssv546118,nssv546140,nssv546119,nssv546124,nssv546170,nssv546115,nssv546152,nssv546155,nssv546156,nssv546168,nssv546145,nssv546121,nssv546161,nssv546116,nssv546132,nssv546123,nssv546129,nssv546135,nssv546146,nssv546149,nssv546171,nssv546122,nssv546147,nssv546153,nssv546163,nssv546167,nssv546164,nssv546148,nssv546173,nssv546134,nssv546138,nssv546125,nssv546139,nssv546141,nssv546133,nssv546128,nssv546117,nssv546162,nssv546174,nssv546126,nssv546160,nssv546136,nssv546127,nssv546169,nssv546166,nssv546150,nssv546172,nssv546158,nssv546157,nssv546159 M 443 0 54 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR4C11,OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D18,OR5L1,OR5L2 HGDP00054,HGDP00058,HGDP00388,HGDP00453,HGDP00491,HGDP00543,HGDP00564,HGDP00566,HGDP00568,HGDP00570,HGDP00572,HGDP00576,HGDP00591,HGDP00602,HGDP00614,HGDP00615,HGDP00620,HGDP00632,HGDP00643,HGDP00647,HGDP00654,HGDP00655,HGDP00657,HGDP00676,HGDP00686,HGDP00694,HGDP00695,HGDP00696,HGDP00697,HGDP00789,HGDP00864,HGDP00867,HGDP00874,HGDP00876,HGDP00880,HGDP00903,HGDP00913,HGDP00926,HGDP00930,HGDP00940,HGDP00978,HGDP01039,HGDP01046,HGDP01217,HGDP01223,HGDP01231,HGDP01260,HGDP01262,HGDP01263,HGDP01317,HGDP01358,HGDP01387,HGDP01388,HGDP01418 dgv147n27 11 55127597 55174758 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468556,nsv467901 M 1557 0 2 OR4C11,OR4P4 1780854257_A,1780854557_A dgv9n64 11 55127597 55174758 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array nsv818826,nsv818825 M 112 4 5 OR4C11,OR4P4 NA10863,NA12234,NA12264,NA12740,NA12750,NA12751,NA18529,NA19138,NA19139 nsv818827 11 55127597 55179162 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418095,nssv1418096,nssv1416181 M 112 3 0 OR4C11,OR4P4,OR4S2 NA10859,NA11882,NA12892 dgv10n64 11 55127597 55198944 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818831,nsv818828 M 112 0 3 OR4C11,OR4C6,OR4P4,OR4S2 NA18550,NA18978,NA18992 dgv11n64 11 55127597 55204003 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array nsv818829,nsv818830 M 112 13 32 OR4C11,OR4C6,OR4P4,OR4S2 NA06985,NA06991,NA06994,NA07000,NA07345,NA07348,NA07357,NA10835,NA10847,NA10857,NA10860,NA10861,NA11881,NA11992,NA11993,NA12043,NA12044,NA12239,NA12248,NA12249,NA12865,NA12874,NA12875,NA12878,NA12891,NA18537,NA18547,NA18577,NA18609,NA18855,NA18856,NA18857,NA18949,NA18952,NA18965,NA18968,NA18987,NA18999,NA19137,NA19140,NA19141,NA19142,NA19143,NA19145,NA19193 nsv438185 11 55128383 55130279 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470333,nssv470334,nssv470331,nssv470332 M 269 0 4 Samples from several populations that are part of the HapMap project. OR4C11 NA11832,NA12003,NA12763,NA12864 dgv380e1 11 55130549 55176235 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1667,essv1566,essv4935,essv627,essv2769,essv7514,essv18508,essv6099,essv749,essv3509,essv18464,essv8580,essv19340,essv1976,essv18797,essv25052,essv22264,essv13114,essv14806,essv19804,essv4215,essv21492,essv714,essv3681,essv18017,essv21652,essv4321,essv5956,essv505,essv3434,essv5842,essv1699,essv1797,essv24942 M 271 0 0 OR4P4,OR4S2 NA06985,NA11832,NA11992,NA12003,NA12248,NA12707,NA12761,NA12763,NA12801,NA12864,NA12878,NA18524,NA18532,NA18537,NA18564,NA18573,NA18577,NA18609,NA18859,NA18870,NA18940,NA18942,NA18943,NA18952,NA18956,NA18968,NA18971,NA18992,NA18997,NA18998,NA18999,NA19000,NA19003,NA19130 dgv381e1 11 55130549 55230803 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21616,essv19294,essv6082,essv25123,essv9516,essv7495,essv2933,essv17870,essv20752,essv14672,essv19861,essv5990,essv5852,essv1301,essv12941,essv2157,essv9961,essv946,essv4509,essv19064,essv12034,essv13276,essv5650,essv21899,essv7248,essv16607,essv25189,essv9493,essv22733,essv20686,essv19887,essv11474,essv23726,essv19048,essv19468,essv25098,essv8661,essv6438,essv9559,essv11600,essv24363,essv3919,essv20526,essv24442,essv20493,essv21882,essv7666,essv23111,essv23284,essv977,essv2747,essv7454,essv3944,essv23157 M 271 0 0 OR4C6,OR4P4,OR4S2 NA06991,NA07022,NA07034,NA07348,NA07357,NA10831,NA10838,NA10839,NA10856,NA10857,NA11830,NA11840,NA11881,NA12006,NA12043,NA12234,NA12239,NA12716,NA12750,NA12802,NA12813,NA12814,NA12865,NA12874,NA18521,NA18526,NA18552,NA18555,NA18561,NA18582,NA18592,NA18621,NA18623,NA18632,NA18635,NA18856,NA18861,NA18949,NA18960,NA18964,NA18965,NA18970,NA18978,NA18980,NA19007,NA19101,NA19102,NA19116,NA19145,NA19154,NA19201,NA19204,NA19207,NA19208 dgv382e1 11 55130549 55377275 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7908,essv10596,essv8500,essv7928 M 271 0 0 OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 NA18854,NA19209,NA19211,NA19239 nsv442617 11 55130608 55209585 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR4C6,OR4P4,OR4S2 dgv50e55 11 55133582 55377275 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34793,esv34637 M 771 0 2 OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 NA19093,NA19211 dgv5e49 11 55138164 55230770 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis essv101794,essv101791,essv101810 M 270 0 3 OR4C6,OR4P4,OR4S2 NA12043,NA18856,NA19007 dgv13n68 11 55139256 55350949 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832157,nsv832156 M 95 0 9 OR4C6,OR4P4,OR4S2,OR5D13,OR5D14,OR5D18,OR5L1 dgv148n27 11 55139733 55204003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468559,nsv468558,nsv468557 M 1557 0 3 OR4C6,OR4P4,OR4S2 1780862081_A,HGDP00976,NINDS_197 nsv825896 11 55157878 55188000 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423639 S 31 0 1 OR4P4,OR4S2 NA18999 nsv514622 11 55159692 55207748 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628102 S 1414 0 1 OR4C6,OR4P4,OR4S2 nsv471363 11 55162410 55163347 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548074 S 3 OR4P4 dgv149n27 11 55165240 55204003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468562,nsv468560 M 1557 0 2 OR4C6,OR4S2 1780854159_A,1780862416_A esv269672 11 55165437 55165522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517995 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv468563 11 55174758 55193702 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543680 S 1557 0 1 OR4C6,OR4S2 1780862311_A nsv471364 11 55174956 55175891 CNV Complex Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548076,nssv548075 M 3 OR4S2 dgv6e49 11 55179066 55231776 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis essv101807,essv101788 M 270 0 2 OR4C6 NA11881,NA18552 dgv12n64 11 55179162 55352889 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818832,nsv818834 M 112 0 5 OR4C6,OR5D13,OR5D14,OR5D18,OR5L1,OR5L2 NA18852,NA18854,NA19093,NA19094,NA19239 nsv499760 11 55188127 55214332 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585497 S 9 0 0 OR4C6 nsv7218 11 55189531 55251899 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10819 S 9 0 0 OR4C6 NA18956 nsv825898 11 55191077 55209826 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439878,nssv1428474,nssv1430808 M 31 0 3 "" AK16,NA18537,NA18968 dgv218n67 11 55192063 55200462 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825899,nsv825900 M 31 0 2 "" NA18526,NA18566 dgv7e49 11 55193702 55240289 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis essv101793,essv101808 M 270 0 2 "" NA12239,NA12874 nsv825901 11 55197485 55198667 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425209 S 31 0 1 "" AK2 nsv825902 11 55197580 55199399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432301 S 31 0 1 "" AK20 dgv383e1 11 55201444 55394688 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8625,essv8406,essv15227,essv12923,essv13066,essv9300,essv13886,essv14649,essv10941,essv11189 M 271 0 0 OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 NA18852,NA18854,NA19093,NA19094,NA19209,NA19211,NA19239 dgv51e55 11 55201870 55377275 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34561,esv34760,esv34812,esv35012,esv35147 M 771 0 5 OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 NA18852,NA18854,NA19094,NA19209,NA19239 nsv511484 11 55202386 55217569 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626101 S 1 1 0 "" 1 dgv219n67 11 55202473 55207696 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825904,nsv825903 M 31 0 2 "" NA18526,NA18547 nsv469885 11 55202869 55375199 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649906 M 265 0 4 Samples from several populations that are part of the HapMap project. OR5D13,OR5D14,OR5D16,OR5D18,OR5L1,OR5L2 dgv150n27 11 55204003 55352889 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468564,nsv468565 M 1557 0 2 OR5D13,OR5D14,OR5D18,OR5L1,OR5L2 HGDP00926,HGDP00940 dgv8e49 11 55210062 55243391 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis essv101816,essv101804,essv101803 M 270 0 2 "" NA18852,NA19209 nsv514623 11 55217188 55296064 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628104 S 1414 0 0 "" nsv442618 11 55217259 55303668 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR5D13 essv101806 11 55220358 55340685 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. OR5D13,OR5D14,OR5L1 NA19093 nsv468566 11 55260197 55310673 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543683 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR5D13 HGDP01418 esv1000149 11 55280250 55280250 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569092 S 3 1 0 "" HuRef esv1158444 11 55292015 55292015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971586 S 2 1 0 "" HuRef nsv832158 11 55306736 55457885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449202,nssv1449201 M 95 2 0 OR5D14,OR5D16,OR5D18,OR5L1,OR5L2,OR5W2,SPRYD5 nsv39282 11 55347300 55357168 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57860 M 24 OR5L2 nsv8828 11 55348047 55350970 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22897,nssv19224 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA18975 nsv8829 11 55431954 55434989 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19254,nssv23163 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18972,NA18975 nsv437718 11 55436559 55585332 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467599 S 60 0 1 Samples from several populations that are part of the HapMap project. OR10AG1,OR5AS1,OR5F1,OR5I1,OR5W2,OR7E5P NA18863 nsv468568 11 55439371 55576120 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543684 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR10AG1,OR5AS1,OR5F1,OR5I1,OR7E5P HGDP00941 nsv469959 11 55442132 55576120 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546177,nssv546175,nssv546178 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR10AG1,OR5AS1,OR5F1,OR5I1,OR7E5P HGDP00693,HGDP00941,HGDP00944 nsv517590 11 55442132 55593196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668199,nssv690811,nssv662190,nssv666867,nssv702049,nssv654399,nssv652451,nssv659264 M 2026 0 8 OR10AG1,OR5AS1,OR5F1,OR5I1,OR7E5P dgv52e55 11 55442375 55599088 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34592,esv34825 M 771 0 2 OR10AG1,OR5AS1,OR5F1,OR5I1,OR7E5P NA18862,NA18863 dgv151n27 11 55443304 55465391 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468570,nsv468569 M 1557 0 2 OR5I1 HGDP01285,NINDS_159 dgv384e1 11 55446439 55605732 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1008,essv14040,essv11294 M 271 0 0 OR10AG1,OR5AS1,OR5F1,OR5I1,OR7E5P NA18862,NA18863 nsv468571 11 55460342 55465391 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543687 S 1557 0 1 OR5I1 NINDS_125 dgv152n27 11 55461398 55486327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468574,nsv468573 M 1557 0 2 "" 1780854261_A,1782681076_A esv2533745 11 55482871 55484372 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249057 S 1 0 1 "" NA18507 nsv521440 11 55520519 55809097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698050 S 2026 0 1 OR5AS1,OR5J2,OR5T1,OR5T2,OR5T3,OR8H2,OR8H3,OR8I2,OR8J3,OR8K5 esv270841 11 55527876 55527984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510271,essv2510982,essv2511427,essv2508090,essv2493426,essv2493949,essv2499569 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11831,NA11920,NA12045,NA12763,NA18871 nsv832160 11 55536761 55673374 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449203 S 95 1 0 OR5AS1,OR8H2,OR8H3,OR8I2,OR8J3 nsv468575 11 55604521 55694530 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543690 S 1557 0 1 OR8H2,OR8H3,OR8I2,OR8J3,OR8K5 1780862176_A nsv519283 11 55718817 55732908 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680302,nssv682976,nssv655205,nssv687169 M 2026 0 4 "" esv1346053 11 55792138 55792297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692677 S 2 0 1 "" HuRef nsv832161 11 55802749 55923540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449204 S 95 1 0 OR8H1,OR8J1,OR8K1,OR8K3,OR8U1,OR8U8 esv269466 11 55834392 55834552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508752,essv2504562,essv2508612 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18532,NA18563,NA18592 nsv324 11 55875518 55912931 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9822,nssv10820,nssv3951,nssv2866,nssv5357,nssv6459 M 9 6 0 OR8J1,OR8U1,OR8U8 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129 nsv511006 11 55879336 55911867 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621569 S 4 0 0 OR8J1,OR8U1,OR8U8 NA15510 nsv510256 11 55888632 55894632 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622034,nssv623933 M 4 0 2 "" NA10860,NA18994 nsv478256 11 55900146 55900266 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557973 S 9 1 0 Samples from several populations that are part of the HapMap project. OR8U1,OR8U8 NA18507 nsv499490 11 55900146 55900266 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586198 S 9 1 0 OR8U1,OR8U8 nsv825905 11 55941394 55942114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433065 S 31 0 1 OR5R1,OR8U8 NA18972 nsv825906 11 55971964 55977696 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435320 S 31 0 1 OR8U8 NA18942 dgv220n67 11 55993025 55996369 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825907,nsv825909 M 31 2 0 OR5M3,OR8U8 NA18949,NA18997 nsv825910 11 55993563 55994273 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436069 S 31 1 0 OR5M3,OR8U8 NA18566 nsv825911 11 55993916 55995277 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431533 S 31 1 0 OR5M3,OR8U8 AK18 esv271600 11 56059900 56060235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565568,essv2576097,essv2540883,essv2571826,essv2546157,essv2521401,essv2526228,essv2542542,essv2536788,essv2522663,essv2544164,essv2570788,essv2556718,essv2568238,essv2545460,essv2577515,essv2570400,essv2548379,essv2550687,essv2525272,essv2535126,essv2553962,essv2544484,essv2552082,essv2520658,essv2558429,essv2564324,essv2577717,essv2553660,essv2559509,essv2565506,essv2576486,essv2520051,essv2564093,essv2554832,essv2530712,essv2562029,essv2537398,essv2528197,essv2546948,essv2540073,essv2520895,essv2557514,essv2532187,essv2569577,essv2527148,essv2561444,essv2544574,essv2562921,essv2523493,essv2552852,essv2541147,essv2542652,essv2540444,essv2524508,essv2564913,essv2534622,essv2561061,essv2539830,essv2519832,essv2560145,essv2522265,essv2566285,essv2530935,essv2532853,essv2567660,essv2528889,essv2541732,essv2570243,essv2563607,essv2553465,essv2535544,essv2572578,essv2559123,essv2542208,essv2568993,essv2556147,essv2562517,essv2578124,essv2555381,essv2555485,essv2567271,essv2566588,essv2530068,essv2574050,essv2527614,essv2555908,essv2534413,essv2522609,essv2531344,essv2573577,essv2543284,essv2572083,essv2525625,essv2527015,essv2529679,essv2538761,essv2524202,essv2572696,essv2568609,essv2571315,essv2574332,essv2551377,essv2536288,essv2537807,essv2548916,essv2525003,essv2563342,essv2557904 M 157 109 0 Samples from several populations that are part of the HapMap project. OR8U8 NA06986,NA07000,NA07037,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18505,NA18508,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18861,NA18871,NA18909,NA18940,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19108,NA19129,NA19143,NA19147,NA19238,NA19240,NA19257 esv272202 11 56059900 56060235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582183,essv2582473,essv2582785,essv2583984,essv2583312 M 7 5 0 Samples from several populations that are part of the HapMap project. OR8U8 NA12878,NA12891,NA12892,NA19238,NA19240 esv1312067 11 56059939 56059939 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854087 S 2 1 0 OR8U8 HuRef nsv516558 11 56071873 56104212 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681187,nssv669146,nssv656350,nssv692325,nssv686831,nssv659706,nssv661669,nssv659769,nssv685866,nssv673021 M 2026 0 10 OR5M10,OR8U8 esv2421725 11 56079983 56110620 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5045155,essv5095095,essv5041171,essv5141488,essv5100656,essv5089123,essv5115223,essv5006514,essv5158133,essv5033110,essv5068798,essv5123348,essv5098163,essv5125015,essv5079312,essv5025258 M 1184 0 16 OR5M10,OR8U8 NA18520,NA19224,NA19226,NA19346,NA19439,NA19982,NA20282,NA20289,NA20301,NA20341,NA21403,NA21404,NA21420,NA21448,NA21600,NA21632 dgv69n21 11 56081152 56123253 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525637,nsv523453 M 2026 0 2 OR5M10,OR8U8 esv270679 11 56093368 56093471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510266,essv2511466,essv2502864,essv2493481,essv2505051,essv2499585 M 157 6 0 Samples from several populations that are part of the HapMap project. OR8U8 NA07357,NA10851,NA11920,NA12156,NA12763,NA12828 esv1126694 11 56121148 56121148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118931 S 2 1 0 OR8U8 HuRef nsv516710 11 56123253 56123460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670304,nssv686775,nssv680316,nssv678935,nssv662265,nssv684856,nssv686288 M 2026 0 7 OR8U8 esv2609377 11 56190468 56192042 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170634 S 1 0 1 OR8U8 NA18507 nsv509410 11 56195385 56248531 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619346,nssv623411,nssv620782 M 4 3 0 OR8U8,OR9G1,OR9G9 NA10860,NA15510,NA18994 dgv221n67 11 56196283 56196851 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825912,nsv825913,nsv825914 M 31 23 0 OR8U8 AK10,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18972,NA18973,NA18999 nsv821419 11 56196283 56196851 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420949 S 1 0 1 OR8U8 NA10851 nsv820053 11 56196313 56196896 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419010 S 2 1 0 OR8U8 AK1 esv28800 11 56196356 56196846 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16265 S 451 2 0 OR8U8 NA12414,NA19225 nsv325 11 56206265 56232995 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1009,nssv9944,nssv10821,nssv9270,nssv5359,nssv10894,nssv6460,nssv3952 M 9 8 0 OR8U8,OR9G1,OR9G9 NA12156,NA12878,NA15510,NA18507,NA18517,NA18956,NA19129,NA19240 esv1004082 11 56221069 56227502 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563611 S 3 1 0 OR8U8,OR9G1,OR9G9 HuRef esv7703 11 56224761 56264353 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30144 S 1 0 1 OR8U8,OR9G1,OR9G9 SJK esv1365554 11 56227154 56227154 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683306 S 2 1 0 OR8U8 HuRef nsv468577 11 56260304 56460618 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543691 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR8U8,OR9G4 HGDP00862 nsv825915 11 56326001 56326460 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423644 S 31 0 1 "" NA18999 nsv519069 11 56347126 56349021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696541 S 2026 0 1 "" nsv469960 11 56361798 56460618 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546179 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00867 nsv8830 11 56381278 56384481 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20369,nssv19796 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA19007,NA19173 esv5859 11 56385377 56386136 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28300 S 1 0 1 "" SJK nsv819794 11 56385380 56386384 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419151 S 2 0 1 "" AK1 nsv520375 11 56426406 56460618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675144,nssv700910,nssv663334 M 2026 0 3 "" nsv832162 11 56473234 56658104 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449205 S 95 0 1 OR5AK2,OR5AK4P esv1585455 11 56549887 56549887 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761056 S 2 1 0 "" HuRef esv24312 11 56703363 56705403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12593 S 451 0 2 "" NA18505,NA18858 esv29013 11 56899903 56902614 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12455 S 451 1 0 PRG3 NA12044 esv2585995 11 56899977 56900847 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326087 S 1 1 0 PRG3 NA18507 esv9075 11 56900251 56900575 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31516 S 1 0 1 "" SJK esv29319 11 57003279 57003904 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16048 S 451 0 1 "" NA18858 nsv832163 11 57055930 57237626 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449207,nssv1449208,nssv1449209 M 95 3 0 CLP1,MED19,MIR130A,SERPING1,SMTNL1,TMX2,TMX2-CTNND1,UBE2L6,YPEL4,ZDHHC5 nsv897588 11 57120957 57130054 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506615 S 6533 1 0 SERPING1 SP54381 nsv832164 11 57164193 57335401 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449210 S 95 0 1 BTBD18,C11orf31,CLP1,CTNND1,MED19,MIR130A,TMX2,TMX2-CTNND1,YPEL4,ZDHHC5 esv992553 11 57164870 57175927 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563567 S 3 0 1 MIR130A,YPEL4 HuRef nsv508633 11 57176161 57316621 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622485,nssv622483 M 4 0 1 BTBD18,C11orf31,CLP1,CTNND1,MED19,TMX2,TMX2-CTNND1,ZDHHC5 NA18994 nsv326 11 57255129 57272935 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1010 S 9 1 0 BTBD18,C11orf31,TMX2,TMX2-CTNND1 NA19240 nsv327 11 57289217 57307322 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8914 S 9 0 1 CTNND1,TMX2-CTNND1 NA12156 nsv897589 11 57380391 57808933 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536795 S 6533 1 0 OR10Q1,OR10W1,OR1S1,OR1S2,OR6Q1,OR9I1,OR9Q1,OR9Q2 MS12963 nsv442231 11 57401386 57405822 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517822 11 57485569 57507577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695227 S 2026 0 1 "" nsv328 11 57501324 57546516 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1011,nssv8915 M 9 0 2 "" NA12156,NA19240 nsv498759 11 57511020 57518690 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586527 S 9 0 1 "" esv21936 11 57512198 57524334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17317,esv18668,esv17939 M 451 0 4 "" NA18517,NA18909,NA18916,NA19240 nsv514625 11 57517356 57518128 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628105 S 1414 0 1 "" esv271277 11 57530657 57530820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514695,essv2517038,essv2514180,essv2518649,essv2515028,essv2516432,essv2518072,essv2515861,essv2514347,essv2517632,essv2517174,essv2513923,essv2518389 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11931,NA12043,NA12045,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA18970,NA19143,NA19240 esv274021 11 57530657 57530820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581533,essv2581242 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1005011 11 57530696 57530696 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567212 S 3 1 0 "" HuRef esv1758394 11 57530697 57530697 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751342 S 2 1 0 "" HuRef nsv832165 11 57562600 57765652 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449211 S 95 1 0 OR10Q1,OR1S1,OR1S2,OR9I1,OR9Q1,OR9Q2 esv1014341 11 57574692 57576692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272343 S 2 0 1 OR9Q1 HuRef nsv38691 11 57577681 57577681 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57269 M 24 OR9Q1 nsv523101 11 57600082 57628442 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698794 S 2026 1 0 OR9Q1 esv27790 11 57608111 57613242 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15619 S 451 0 1 OR9Q1 NA19240 esv2421902 11 57608407 57612191 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091432,essv5079919,essv5003907,essv5036037,essv5015754,essv5119725,essv5089142,essv5026916,essv5027245,essv5036358,essv5097120,essv5115178,essv5025793,essv5028842,essv5007907,essv5105803,essv5101299,essv5139014,essv5141245,essv5148439,essv5112703,essv5160431 M 1184 0 22 OR9Q1 NA18854,NA18933,NA19127,NA19184,NA19206,NA19208,NA19238,NA19240,NA19437,NA19438,NA19462,NA19625,NA19904,NA19915,NA19983,NA19985,NA20279,NA20282,NA20292,NA20302,NA21115,NA21577 nsv442232 11 57608407 57612191 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR9Q1 nsv832166 11 57608607 57762765 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449213,nssv1449212 M 95 1 1 OR10Q1,OR1S1,OR1S2,OR9I1,OR9Q1,OR9Q2 esv1637993 11 57663932 57663932 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811407 S 2 1 0 OR9Q1 HuRef nsv832167 11 57669085 57705326 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449215,nssv1449216,nssv1449214 M 95 2 1 OR9Q1 esv2067811 11 57719222 57719935 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936535 S 1 0 1 "" NA18507 esv4960 11 57719321 57719898 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27401 S 1 0 1 Single Asian sample YH "" YH esv7699 11 57719416 57719772 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30140 S 1 0 1 "" SJK nsv825916 11 57724343 57739417 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424444 S 31 1 0 OR1S1,OR1S2 NA18582 dgv222n67 11 57726327 57740550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825922,nsv825917,nsv825921,nsv825918 M 31 0 7 OR1S1,OR1S2 AK20,NA18537,NA18547,NA18592,NA18942,NA18947,NA18972 esv8723 11 57731122 57735861 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31164 S 1 0 0 "" SJK nsv825923 11 57735603 57737001 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422024 S 31 1 0 "" NA18997 nsv522219 11 57869527 57871560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694996 S 2026 0 1 "" nsv517849 11 57885629 58020757 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695254 S 2026 1 0 OR5B12,OR5B2,OR5B3 esv2564004 11 57922823 57925190 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364030 S 1 0 1 "" NA18507 nsv512229 11 57923017 57924751 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624800 S 1 0 1 "" 1 esv2007207 11 57923380 57924938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985283 S 1 0 1 "" NA18507 esv26216 11 57923640 57924844 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20345 S 451 0 3 "" NA12287,NA18861,NA19099 esv272530 11 57928386 57929945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580080,essv2579845 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv271719 11 57928386 57929949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500820,essv2506754,essv2495424,essv2511419,essv2495299,essv2504434,essv2499404,essv2505541,essv2495311,essv2502502,essv2507774,essv2493343,essv2505055,essv2508813,essv2500253,essv2502753,essv2496715,essv2511782,essv2510736,essv2503056,essv2494902,essv2509019,essv2499921,essv2504509,essv2507811,essv2511363,essv2508144,essv2510053,essv2496049,essv2499219,essv2505867,essv2513299,essv2512397,essv2493131,essv2505427,essv2496022,essv2502656,essv2500787,essv2504686,essv2506745,essv2499000,essv2509461,essv2498712,essv2497570,essv2496914,essv2493888,essv2502221,essv2503583,essv2495776,essv2513085 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA10847,NA11830,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA12154,NA12287,NA12750,NA12751,NA12776,NA12828,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18507,NA18520,NA18522,NA18562,NA18563,NA18564,NA18570,NA18579,NA18593,NA18603,NA18605,NA18861,NA18907,NA18949,NA18951,NA18952,NA18961,NA18965,NA18973,NA19099,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19210,NA19257 esv2430027 11 57976919 57978645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225739 S 1 0 1 "" NA18507 esv2362621 11 57976995 57977601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547904 S 1 0 1 "" NA18507 nsv38576 11 57977183 57977510 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57154 M 24 "" esv1150767 11 57977200 57977527 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778900 S 2 0 1 "" HuRef nsv820292 11 58051381 58051803 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418944 S 2 1 0 LPXN AK1 nsv528190 11 58093196 58104341 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704747 S 2026 0 1 LPXN,ZFP91,ZFP91-CNTF esv268766 11 58123155 58123501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507985,essv2513208 M 157 2 0 Samples from several populations that are part of the HapMap project. ZFP91,ZFP91-CNTF NA12003,NA12249 nsv832168 11 58150636 58321227 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449218,nssv1449219 M 95 2 0 GLYAT dgv70n21 11 58160409 58161309 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528261,nsv527919 M 2026 0 2 "" esv2459713 11 58186283 58194568 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314889 S 1 0 1 "" NA18507 esv2366665 11 58194419 58194865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599660 S 1 0 1 "" NA18507 nsv329 11 58207620 58234866 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4626 S 9 0 1 GLYAT NA19129 esv22294 11 58214077 58218507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21046 S 451 0 8 "" NA18505,NA18508,NA18517,NA18858,NA18909,NA18916,NA19129,NA19240 esv2528872 11 58214103 58219382 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352666 S 1 0 1 "" NA18507 esv2000793 11 58214414 58218663 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936983 S 1 0 1 "" NA18507 nsv514626 11 58214424 58218084 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628106 S 1414 0 1 "" esv2497854 11 58215701 58217812 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208362 S 1 0 1 "" NA18507 nsv516321 11 58215812 58216649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659326,nssv669494,nssv686156,nssv667560,nssv685724,nssv661010,nssv659847,nssv658871,nssv673777,nssv687488,nssv675627 M 2026 0 11 "" esv2421991 11 58215812 58217302 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083904,essv5013171,essv5158815,essv5111714,essv5005606,essv5004475,essv5079006,essv5068313,essv5093284,essv5108428,essv5048092,essv5146208,essv5014906,essv5090973,essv5088364,essv5037119,essv5075219,essv5032912,essv5121234,essv5014706,essv5155638,essv5129783,essv5121417,essv5117711,essv5146450,essv5041595,essv5116925,essv5020003,essv5075554,essv5051942,essv5063924,essv5115339,essv5073002,essv5133925,essv5036123,essv5016517,essv5062563,essv5033211,essv5110689,essv5042350,essv5057161,essv5099822,essv5018130,essv5153894,essv5025289,essv5074595,essv5065097,essv5158644,essv5116556,essv5036049,essv5008504,essv5097586,essv5060511,essv5051154,essv5095516,essv5130977,essv5088709,essv5061902,essv5063984,essv5077203,essv5116230,essv5084716,essv5138933,essv5089772,essv5061694,essv5130434,essv5137993,essv5024968,essv5141375,essv5064174,essv5008663,essv5080902,essv5024355,essv5036411,essv5098545,essv5033680,essv5046696,essv5065472,essv5044699,essv5020693,essv5021882,essv5098296,essv5115710,essv5035849,essv5006429,essv5056168,essv5070749,essv5002004,essv5036509,essv5132373,essv5147219,essv5011487,essv5016431,essv5099826,essv5094106,essv5097690,essv5103851,essv5061046,essv5074540,essv5035818,essv5019174,essv5085449,essv5039136,essv5109812,essv5029788,essv5014198,essv5120858,essv5054513,essv5048532,essv5051032,essv5110336,essv5116542,essv5136008,essv5156141,essv5022212,essv5042421,essv5050145,essv5059641,essv5113174,essv5057523,essv5085418,essv5051668,essv5042989,essv5011352,essv5003330,essv5003638,essv5111792,essv5030641,essv5114388,essv5101014,essv5053625,essv5045901,essv5153489,essv5047784,essv5050427,essv5135569,essv5042424,essv5088829,essv5033564,essv5102582,essv5110799,essv5063149,essv5004186,essv5098438,essv5038199,essv5160404,essv5047932,essv5025467,essv5008478,essv5033116,essv5006868,essv5048890,essv5028738,essv5098894,essv5118926,essv5025885,essv5014759,essv5084482,essv5043801,essv5027550,essv5061330,essv5121593,essv5124846,essv5118237,essv5153753,essv5041325 M 1184 0 166 "" NA12843,NA18108,NA18484,NA18486,NA18488,NA18499,NA18503,NA18505,NA18506,NA18507,NA18508,NA18510,NA18517,NA18852,NA18853,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18867,NA18869,NA18873,NA18875,NA18909,NA18912,NA18913,NA18914,NA18916,NA18923,NA18925,NA18930,NA19031,NA19035,NA19093,NA19102,NA19103,NA19116,NA19117,NA19121,NA19123,NA19127,NA19129,NA19140,NA19141,NA19143,NA19144,NA19146,NA19148,NA19149,NA19151,NA19171,NA19172,NA19173,NA19178,NA19179,NA19180,NA19197,NA19198,NA19199,NA19200,NA19201,NA19207,NA19209,NA19211,NA19221,NA19223,NA19235,NA19237,NA19238,NA19239,NA19240,NA19256,NA19307,NA19318,NA19324,NA19360,NA19375,NA19379,NA19380,NA19381,NA19382,NA19384,NA19391,NA19398,NA19399,NA19429,NA19430,NA19440,NA19449,NA19463,NA19467,NA19468,NA19701,NA19704,NA19705,NA19714,NA19777,NA19778,NA19834,NA19908,NA19909,NA19919,NA19983,NA19985,NA20129,NA20276,NA20301,NA20302,NA20335,NA20347,NA20357,NA21297,NA21300,NA21352,NA21353,NA21355,NA21357,NA21359,NA21361,NA21365,NA21367,NA21368,NA21378,NA21379,NA21381,NA21383,NA21399,NA21402,NA21403,NA21404,NA21405,NA21417,NA21436,NA21438,NA21439,NA21448,NA21453,NA21478,NA21480,NA21509,NA21510,NA21512,NA21514,NA21523,NA21525,NA21529,NA21573,NA21574,NA21575,NA21578,NA21583,NA21600,NA21601,NA21631,NA21634,NA21636,NA21647,NA21648,NA21650,NA21716,NA21722,NA21739,NA21740,NA21741 nsv507592 11 58235117 58241117 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620236,nssv622896,nssv617814 M 4 3 0 GLYAT CHM,NA15510,NA18994 nsv330 11 58247221 58280094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3955 S 9 1 0 GLYAT NA12878 dgv71n21 11 58310347 58388944 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523481,nsv525355 M 2026 0 2 GLYATL2 esv993726 11 58347069 58353342 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564140 S 3 0 1 "" HuRef esv5315 11 58350727 58352690 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27756 S 1 0 1 Single Asian sample YH "" YH esv27432 11 58351105 58352597 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16753,esv12928 M 451 0 3 "" NA11894,NA12004,NA18907 esv23547 11 58371247 58393087 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15332,esv13443 M 451 3 4 "" NA07045,NA12489,NA12776,NA15510,NA18505,NA18508,NA19129 nsv508634 11 58380664 58413958 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622494 S 4 0 1 "" NA18994 nsv825924 11 58383411 58391497 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423647 S 31 0 1 "" NA18999 nsv524785 11 58384410 58388944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700777 S 2026 0 1 "" nsv819127 11 58386339 58392074 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419731 S 2 0 1 "" AK1 nsv435928 11 58388274 58393399 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466660 S 2 0 1 "" NA15510 nsv528475 11 58388944 58413384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705078 S 2026 0 1 "" dgv223n67 11 58389008 58392346 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825926,nsv825925 M 31 0 12 "" AK2,AK20,AK8,NA18526,NA18542,NA18547,NA18552,NA18566,NA18942,NA18947,NA18972,NA18973 dgv385e1 11 58456668 58635415 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8424,essv2527,essv9867,essv12563,essv7214,essv13655,essv24802,essv9182,essv11208,essv7101,essv17034,essv10489,essv14279,essv4091,essv4440,essv16364,essv6643,essv1786,essv87,essv1159,essv8178 M 271 0 0 FAM111B,GLYATL1,LOC283194 NA10860,NA18515,NA18516,NA18537,NA18547,NA18552,NA18621,NA18635,NA18951,NA18991,NA18997,NA19003,NA19098,NA19119,NA19128,NA19144,NA19145,NA19193,NA19194,NA19204,NA19206 nsv428258 11 58456668 58635415 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452085 S 62 0 1 FAM111B,GLYATL1,LOC283194 HGDP00478 dgv386e1 11 58456668 58765249 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5413,esv712,essv2022 M 271 0 0 DTX4,FAM111A,FAM111B,GLYATL1,LOC283194,MPEG1 NA18563,NA18949 dgv14n68 11 58456673 58635415 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832171,nsv832169 M 95 3 0 FAM111B,GLYATL1,LOC283194 nsv469559 11 58487361 58644215 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649671 M 265 0 0 Samples from several populations that are part of the HapMap project. FAM111B,LOC283194 nsv471671 11 58487362 58644215 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549243,nssv549244,nssv549242 M 48 3 0 FAM111B,LOC283194 NA10979,NA11776,NA17016 nsv510257 11 58496954 58502954 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622041,nssv623957,nssv618344,nssv621225 M 4 0 4 LOC283194 CHM,NA10860,NA15510,NA18994 dgv387e1 11 58502814 58662594 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15943,essv10176,essv3653,essv7240,essv940,essv2430 M 271 0 0 FAM111B,LOC283194 NA18515,NA18516,NA18635,NA18949,NA18951,NA18991 essv6513 11 58535219 58610745 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC283194 NA18572 nsv468578 11 58547204 58658339 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543692 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM111B,LOC283194 HGDP00601 dgv388e1 11 58558019 58653725 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14833,essv5991,essv6205 M 271 0 0 FAM111B,LOC283194 NA18552,NA18563,NA19119 nsv897590 11 58560404 58603561 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512347 S 6533 1 0 LOC283194 SP55451 nsv8831 11 58561003 58611547 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20175,nssv20148,nssv18379,nssv19906,nssv21178,nssv20477 M 31 6 0 Samples from several populations that are part of the HapMap project. LOC283194 NA18537,NA18552,NA18563,NA18564,NA18572,NA19144 dgv1150n71 11 58563817 58610745 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv897591,nsv897592 M 6533 12 7 LOC283194 SP50977,SP52234,SP54467,SP54471,SP54734,SP54782,SP54822,SP55462,SP55488,SP55509,SP56086,SP56215,SP56223,SP56795,SP56886,SP56926,SP57190,SP57205,SP57463 esv24876 11 58565117 58610501 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18621 S 451 1 0 LOC283194 NA18907 esv2408431 11 58565674 58566372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805789 S 1 0 1 LOC283194 NA18507 esv5652 11 58565876 58566199 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28093 S 1 0 1 LOC283194 SJK dgv224n67 11 58566189 58611378 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825930,nsv825932,nsv825933,nsv825929,nsv825927 M 31 6 0 LOC283194 AK18,AK20,NA18537,NA18566,NA18582,NA18997 dgv1151n71 11 58567210 58615298 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897593,nsv897594,nsv897596,nsv897597 M 6533 6 0 LOC283194 SP52377,SP55986,SP56173,SP56710,SP57368,SP80948 nsv825928 11 58567230 58609964 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430341,nssv1438346,nssv1440557,nssv1428507,nssv1437664,nssv1426935,nssv1422828 M 31 6 1 LOC283194 AK6,NA18547,NA18552,NA18564,NA18949,NA18951,NA18968 dgv389e1 11 58567817 58610745 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1583,essv1666,essv7621,essv8997,essv1702 M 271 0 0 LOC283194 NA18547,NA18968,NA18992,NA18997,NA19194 esv2422069 11 58567817 58610745 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028994,essv5107912,essv5090626,essv5125582,essv5144315,essv5080189,essv5002562,essv5106560,essv5071216,essv5075098,essv5091725,essv5085845,essv5047034,essv5004032,essv5109562,essv5047378,essv5061551,essv5091397,essv5101446,essv5020416,essv5023407,essv5140991,essv5034649,essv5101736,essv5134958,essv5073150,essv5140553,essv5144434,essv5033750,essv5145120,essv5106908,essv5151318,essv5126244,essv5036451,essv5020450,essv5011782,essv5018935,essv5114816,essv5141593,essv5107916,essv5062543,essv5034789,essv5031963,essv5044076,essv5090578,essv5104614,essv5001972,essv5102603,essv5016269,essv5050473,essv5087073,essv5088915,essv5003448,essv5121868,essv5060615,essv5105067,essv5077509,essv5053757,essv5051755,essv5026375,essv5120663,essv5004542,essv5103816,essv5161042,essv5114185,essv5055036,essv5009210,essv5050599,essv5153250,essv5150511,essv5109768,essv5082442,essv5093162,essv5068540,essv5072051,essv5007319,essv5088632,essv5047084,essv5052416,essv5146299,essv5151755,essv5137636,essv5132225,essv5081293,essv5044807,essv5037814,essv5158343,essv5158777,essv5003728,essv5143722,essv5156578,essv5117037,essv5125484,essv5153499,essv5039048,essv5042698,essv5061619,essv5074078,essv5113460,essv5136457,essv5077993,essv5049111,essv5109111,essv5123746,essv5152328,essv5104651,essv5010800,essv5119308,essv5070238,essv5118104,essv5060595,essv5033115,essv5153535,essv5029876,essv5112969,essv5050844,essv5094280,essv5013904,essv5125447,essv5112135,essv5045256,essv5090772,essv5055982,essv5022105,essv5047577,essv5005128,essv5018994,essv5124742,essv5060434,essv5096429,essv5011136,essv5059231,essv5021184,essv5068094,essv5096245 M 1184 135 0 LOC283194 NA07347,NA07349,NA11992,NA17968,NA18102,NA18106,NA18118,NA18120,NA18125,NA18128,NA18134,NA18151,NA18154,NA18157,NA18160,NA18162,NA18507,NA18515,NA18516,NA18534,NA18537,NA18544,NA18552,NA18561,NA18563,NA18564,NA18566,NA18572,NA18582,NA18597,NA18605,NA18609,NA18614,NA18617,NA18621,NA18627,NA18631,NA18634,NA18635,NA18643,NA18645,NA18647,NA18689,NA18694,NA18748,NA18749,NA18924,NA18925,NA18933,NA18934,NA18935,NA18951,NA18954,NA18957,NA18959,NA18968,NA18991,NA18993,NA18997,NA19009,NA19046,NA19055,NA19057,NA19058,NA19059,NA19062,NA19066,NA19068,NA19074,NA19078,NA19080,NA19084,NA19085,NA19088,NA19098,NA19118,NA19119,NA19128,NA19131,NA19137,NA19144,NA19174,NA19178,NA19180,NA19184,NA19185,NA19193,NA19194,NA19204,NA19206,NA19208,NA19309,NA19321,NA19324,NA19327,NA19352,NA19377,NA19394,NA19398,NA19404,NA19428,NA19438,NA19448,NA19449,NA19452,NA19457,NA19670,NA19750,NA19751,NA19782,NA19818,NA19900,NA20341,NA20348,NA20846,NA20847,NA20849,NA20861,NA20904,NA20909,NA20911,NA21103,NA21104,NA21371,NA21379,NA21400,NA21424,NA21457,NA21476,NA21477,NA21486,NA21524,NA21596,NA21613,NA21685 nsv442619 11 58567820 58610341 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC283194 nsv513744 11 58568057 58609960 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626996 S 1 1 0 LOC283194 1 nsv514628 11 58569324 58609824 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628107 S 1414 1 0 LOC283194 esv33906 11 58569589 58609793 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95928 S 51 1 0 LOC283194 22127 nsv897595 11 58575333 58610745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513135 S 6533 0 1 LOC283194 SP55690 esv2610922 11 58587072 58603565 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309329 S 1 1 0 "" NA18507 nsv818835 11 58588932 58590478 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418186,nssv1418187 M 112 2 0 "" NA19144,NA19145 nsv517454 11 58588932 58603752 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665489,nssv657197,nssv684391,nssv671116,nssv670905,nssv676711,nssv652061,nssv685753,nssv682796,nssv652956,nssv691511,nssv652620,nssv690772 M 2026 2 11 "" nsv818836 11 58588932 58603752 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416478,nssv1416477,nssv1418493,nssv1417398,nssv1417658,nssv1415858,nssv1417134,nssv1418494,nssv1415857,nssv1417347,nssv1417417 M 112 11 0 "" NA10860,NA11992,NA18515,NA18516,NA18537,NA18609,NA18949,NA18951,NA18992,NA19193,NA19194 nsv331 11 58611387 58643800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10822 S 9 1 0 FAM111B NA18956 nsv510258 11 58766214 58772214 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618345,nssv622046 M 4 0 2 "" CHM,NA10860 nsv332 11 58784895 58816692 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1012 S 9 1 0 "" NA19240 esv1003535 11 58804489 58806959 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564264 S 3 1 0 "" HuRef nsv507593 11 58805181 58811181 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620244,nssv617815,nssv619044,nssv622906 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv825934 11 58981089 58981790 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432305 S 31 0 1 OR4D6 AK20 esv274882 11 58987657 58993346 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585198 S 1250 0 1 "" esv26905 11 59139870 59140447 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17260 S 451 0 1 OSBP NA12239 nsv832172 11 59152983 59187691 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449226,nssv1449223,nssv1449224,nssv1449227,nssv1449230,nssv1449229,nssv1449231,nssv1449233,nssv1449234,nssv1449235,nssv1449225,nssv1449232 M 95 0 12 PATL1 esv2016738 11 59155189 59155858 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704170 S 1 0 1 "" NA18507 nsv39597 11 59155379 59155705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58175 M 24 "" esv2469731 11 59168727 59169789 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168756 S 1 1 0 PATL1 NA18507 nsv819971 11 59188296 59191142 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419482 S 2 0 1 PATL1 AK1 nsv517878 11 59197847 59237545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695285 S 2026 0 1 OR10V1 nsv825935 11 59371803 59383232 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433880 S 31 0 1 TCN1 NA18526 nsv442233 11 59371967 59382587 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TCN1 nsv334 11 59420376 59465680 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8916 S 9 0 1 "" NA12156 nsv335 11 59443865 59478518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2868 S 9 1 0 "" NA18555 nsv832173 11 59545460 59697136 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449236 S 95 1 0 MS4A2,MS4A3,MS4A6A,PLAC1L nsv509411 11 59566638 59598633 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620789 S 4 1 0 MS4A3,PLAC1L NA15510 nsv336 11 59570222 59599391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3956 S 9 1 0 MS4A3,PLAC1L NA12878 nsv468579 11 59570863 59731976 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543693 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MS4A2,MS4A3,MS4A6A,PLAC1L HGDP00685 nsv476998 11 59572717 59573603 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558041 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv33843 11 59664707 59701910 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100608 S 51 0 1 MS4A6A 22298 nsv832174 11 59665843 59830484 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449237 S 95 1 0 MS4A4A,MS4A6A nsv825936 11 59679520 59680197 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422026 S 31 0 1 "" NA18997 nsv524137 11 59693555 59703828 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700015 S 2026 0 1 MS4A6A esv2215205 11 59933713 59934140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882649 S 1 0 1 MS4A14 NA18507 nsv38947 11 59943027 59943084 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57525 M 24 "" nsv508635 11 59946434 60011682 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622503 S 4 0 1 MS4A1,MS4A5 NA18994 esv4679 11 59984663 59986195 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27120 S 1 0 1 Single Asian sample YH MS4A1 YH nsv471730 11 59984753 59985971 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646011 M 0.104 95 MS4A1 esv28830 11 59984819 59985890 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12629 S 451 0 1 MS4A1 NA15510 nsv525616 11 59996299 59996348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701761 S 2026 0 1 "" nsv337 11 60011169 60043466 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6461 S 9 1 0 MS4A12,MS4A13 NA12156 esv267487 11 60049934 60050277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542334,essv2545344,essv2523463,essv2532002,essv2547582,essv2529192,essv2565526,essv2520909,essv2556909,essv2550187,essv2527261,essv2561676,essv2523844,essv2541132,essv2540530,essv2524622,essv2564839,essv2534582,essv2549186,essv2567841,essv2570222,essv2563619,essv2553388,essv2558985,essv2569052,essv2562252,essv2555522,essv2566513,essv2556014,essv2522456,essv2577127,essv2525701,essv2526917,essv2529824,essv2560714,essv2574889,essv2545827,essv2574348,essv2548938,essv2563160 M 157 40 0 Samples from several populations that are part of the HapMap project. MS4A13 NA07037,NA10847,NA11919,NA12003,NA12004,NA12006,NA12717,NA12749,NA12812,NA18498,NA18501,NA18511,NA18522,NA18523,NA18537,NA18545,NA18552,NA18555,NA18558,NA18561,NA18564,NA18577,NA18593,NA18603,NA18605,NA18638,NA18861,NA18909,NA18945,NA18948,NA18956,NA18960,NA18970,NA18980,NA19005,NA19093,NA19116,NA19138,NA19239,NA19240 esv273867 11 60049937 60050278 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584572,essv2583683 M 7 2 0 Samples from several populations that are part of the HapMap project. MS4A13 NA19239,NA19240 nsv832175 11 60103197 60273115 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449238 S 95 1 0 LINC00301,MS4A8B nsv897598 11 60304180 60401790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585738 S 6533 0 1 CCDC86,GPR44,MS4A10,ZP1 IS37639 esv273941 11 60312747 60312832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581221 S 7 1 0 Samples from several populations that are part of the HapMap project. MS4A10 NA19240 esv2626218 11 60327527 60328952 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294738 S 1 0 1 "" NA18507 esv1523234 11 60328009 60328500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714615 S 2 0 1 "" HuRef esv996765 11 60328009 60329299 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565168 S 3 0 1 "" HuRef esv2195950 11 60347936 60348300 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923694 S 1 0 1 "" NA18507 nsv897599 11 60437201 60464421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508549 S 6533 0 1 SLC15A3,TMEM109,TMEM132A SP54672 nsv897600 11 60446021 60484897 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586406 S 6533 1 0 SLC15A3,TMEM109,TMEM132A IS37775 nsv897601 11 60447156 60464421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511211 S 6533 0 1 SLC15A3,TMEM109,TMEM132A SP55019 esv1472305 11 60506194 60506194 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074019 S 2 1 0 CD6 HuRef nsv39214 11 60514857 60514857 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57792 M 24 CD6 nsv468580 11 60520408 60569033 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543694 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD6 HGDP00774 esv268422 11 60546919 60547004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516404 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv507594 11 60554441 60560441 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620253 S 4 1 0 "" NA15510 nsv832176 11 60573488 60758518 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449248,nssv1449256,nssv1449245,nssv1449240,nssv1449247,nssv1449243,nssv1449246,nssv1449242,nssv1449244,nssv1449251,nssv1449249,nssv1449254,nssv1449252,nssv1449255,nssv1449253,nssv1449257,nssv1449258,nssv1449241 M 95 1 17 CD5,PGA3,PGA4,VPS37C nsv428259 11 60573561 60880212 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452103,nssv452117,nssv452106,nssv452112,nssv452104,nssv452111,nssv452094,nssv452109,nssv452095,nssv452107,nssv452114,nssv452101,nssv452115,nssv452102,nssv452098,nssv452092,nssv452110,nssv452088,nssv452113,nssv452116,nssv452105,nssv452096,nssv452093,nssv452099,nssv452100 M 62 24 1 CD5,CYBASC3,DAK,DDB1,PGA3,PGA4,PGA5,VPS37C,VWCE HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00473,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv509412 11 60601218 60694656 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619372 S 4 1 0 CD5,VPS37C NA10860 nsv897602 11 60607228 60666157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543602 S 6533 0 1 CD5,VPS37C MS16153 esv2484936 11 60607700 60610960 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329440 S 1 0 1 "" NA18507 nsv512230 11 60607914 60610844 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624801 S 1 0 1 "" 1 esv2192615 11 60608255 60610667 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735116 S 1 0 1 "" NA18507 nsv526162 11 60614607 60635238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702421 S 2026 0 1 CD5 esv1978655 11 60623383 60624306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4642712 S 1 0 1 "" NA18507 nsv39073 11 60625221 60625343 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57651 M 24 "" dgv390e1 11 60671936 60837233 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3198,essv8159,essv4799,essv1874,essv10465,essv292,essv11273,essv8433,essv3061,essv17549,essv9739,essv817,essv24284,essv530,essv8765,essv3463,essv3855,essv8233,essv1276,essv18065,essv1740,essv22304,essv2439,essv6321,essv5110,essv897,essv3310,essv5525,essv1396,essv7418,essv22049,essv2802,essv6124,essv4248,essv5910,essv15200,essv5277,essv7109,essv1482,essv4855,essv7762,essv2501,essv12238,essv156,essv21451,essv13179,essv7180,essv13694,essv15112,essv20323,essv13599,essv4448,essv661,essv16407,essv4905,essv15715,essv10051,essv21668,essv13805,essv12287,essv12848,essv9047,essv22427,essv14176,essv16639,essv18403,essv7849,essv7326,essv5053,essv2866,essv16953,essv4122,essv22529,essv24392,essv19593,essv8291,essv21061,essv10213,essv21816,essv22937,essv14440,essv4678,essv11685,essv22897,essv24770,essv6904,essv6387,essv3149,essv5335,essv7041,essv17746,essv4416,essv10560,essv16345,essv22472,essv2599,essv4080,essv19248,essv14363,essv10900,essv6275,essv4955,essv19444,essv6030,esv346,essv13095,essv13414,essv9902,essv10085,essv2269,essv5496,essv23386,essv10682,essv13518,essv6646,essv4645,essv11431,essv8346,essv12963,essv20232,essv3565,essv9134,essv12459,essv19085,essv21206,essv7269,essv21122,essv15377,essv15522,essv8617,essv9768,essv2342,essv14963,essv6587,essv7712,essv6807,essv16502,essv16814,essv19182,essv19653,essv21969,essv15710,essv23767,essv21389,essv18294,essv24870,essv5718,essv12758,essv17961,essv18751,essv14398,essv1596,essv23521,essv48,essv6951,essv1460,essv17253,essv3350,essv3710,essv259,essv24689,essv2039,essv1191,essv9248,essv478,essv12645,essv10414,essv1964,essv7598,essv2198,essv11943,essv1098,essv14620,essv12415,essv2678,essv11758,essv11139,essv14053,essv19791,essv3100,essv3968,essv366,essv14874 M 271 0 0 DDB1,PGA3,PGA4,PGA5,VPS37C,VWCE NA06985,NA06991,NA06993,NA07000,NA07055,NA07348,NA07357,NA10831,NA10835,NA10838,NA10846,NA10856,NA10860,NA10861,NA11829,NA11830,NA11839,NA11840,NA11995,NA12003,NA12144,NA12145,NA12154,NA12155,NA12236,NA12248,NA12249,NA12264,NA12707,NA12717,NA12740,NA12750,NA12760,NA12761,NA12762,NA12763,NA12815,NA12865,NA12874,NA18500,NA18502,NA18503,NA18504,NA18505,NA18507,NA18515,NA18516,NA18522,NA18529,NA18532,NA18537,NA18540,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18612,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18960,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19007,NA19012,NA19092,NA19093,NA19094,NA19099,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19142,NA19144,NA19145,NA19152,NA19153,NA19154,NA19160,NA19192,NA19193,NA19194,NA19201,NA19204,NA19206,NA19207,NA19209,NA19210,NA19211,NA19222,NA19238,NA19239,NA19240 nsv8832 11 60684310 60694243 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22662 S 31 1 0 Samples from several populations that are part of the HapMap project. VPS37C NA18502 esv23256 11 60708704 60711122 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19329 S 451 0 1 "" NA19225 nsv832177 11 60709166 60880212 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449260,nssv1449270,nssv1449259,nssv1449269,nssv1449268,nssv1449264,nssv1449265,nssv1449263,nssv1449262,nssv1449267,nssv1449266,nssv1449271,nssv1449276,nssv1449273,nssv1449275,nssv1449274 M 95 0 16 CYBASC3,DAK,DDB1,PGA3,PGA4,PGA5,VWCE nsv820586 11 60718527 60781946 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420950 S 1 0 1 PGA3,PGA4,PGA5 NA10851 nsv825937 11 60718527 60781946 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430035,nssv1426936,nssv1438347,nssv1432306,nssv1439139,nssv1425213,nssv1431536,nssv1439882,nssv1429002,nssv1427715,nssv1436073,nssv1435324,nssv1429297,nssv1424446,nssv1440558,nssv1428518,nssv1433069,nssv1422829,nssv1426016,nssv1435052,nssv1436906,nssv1430463,nssv1433881,nssv1437665,nssv1423648,nssv1428535,nssv1441347,nssv1434614 M 31 0 28 PGA3,PGA4,PGA5 AK10,AK12,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 nsv8833 11 60719249 60778145 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23191,nssv25311,nssv21208,nssv23752,nssv22303,nssv19284,nssv19966,nssv20619,nssv20178,nssv20507,nssv18382,nssv18409,nssv20305,nssv20205,nssv19826,nssv23025,nssv23219,nssv22691,nssv19936,nssv22351,nssv20888,nssv20887 M 31 20 0 Samples from several populations that are part of the HapMap project. PGA3,PGA4,PGA5 NA11830,NA12155,NA12740,NA18502,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 esv29298 11 60721181 60777607 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12887 S 451 32 2 PGA3,PGA4,PGA5 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv1004439 11 60723113 60763911 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565409 S 3 0 1 PGA3,PGA4 HuRef nsv72 11 60726490 60730664 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv72 S 1 1 0 PGA3 NA15510 nsv338 11 60726490 60735942 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1938,nssv9823,nssv10895 M 9 3 0 PGA3 NA15510,NA18507,NA18555 nsv339 11 60728259 60776032 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3957,nssv6463,nssv10823,nssv5360 M 9 0 4 PGA3,PGA4,PGA5 NA12156,NA12878,NA18956,NA19129 nsv436823 11 60729014 60743162 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466662 S 2 1 0 Samples from several populations that are part of the HapMap project. PGA3 NA18505 nsv514629 11 60735916 60775440 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627111 S 1414 0 0 PGA3,PGA4,PGA5 nsv509414 11 60748009 60748009 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620794 S 4 1 0 PGA4 NA15510 nsv340 11 60754191 60756259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1939 S 9 1 0 PGA4 NA18555 nsv341 11 60764594 60783712 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1940 S 9 1 0 PGA5,VWCE NA18555 esv28446 11 60782036 60791510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17852 S 451 0 1 VWCE NA12489 nsv509415 11 60786520 60839258 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619373 S 4 1 0 DDB1,VWCE NA10860 nsv8834 11 60806157 60820217 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22720,nssv19996 M 31 1 1 Samples from several populations that are part of the HapMap project. VWCE NA18502,NA18552 esv2497950 11 60863696 60865237 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314174 S 1 0 1 DAK NA18507 esv1969466 11 60864196 60864890 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506988 S 1 0 1 DAK NA18507 esv3293 11 60864336 60864987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25734 S 1 0 1 Single Asian sample YH DAK YH esv1545620 11 60864376 60864715 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365857 S 2 0 1 DAK HuRef esv5881 11 60864376 60864730 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28322 S 1 0 1 DAK SJK nsv507595 11 60893584 60899584 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619045,nssv622912,nssv620263 M 4 3 0 "" NA10860,NA15510,NA18994 esv268097 11 60901755 60902093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516741,essv2519217,essv2517414,essv2516980,essv2518797,essv2515031,essv2516306,essv2515708,essv2518123,essv2515844,essv2514311,essv2517884,essv2516284,essv2516931,essv2517195,essv2515270,essv2518274,essv2519411,essv2513715 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11881,NA11894,NA11918,NA11931,NA12045,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19238,NA19240 esv273900 11 60901759 60902087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582058,essv2582314,essv2583154,essv2584275,essv2583751 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1062737 11 60901790 60901790 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184761 S 2 1 0 "" HuRef nsv520751 11 60913632 60939964 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697589 S 2026 1 0 CPSF7,TMEM216 nsv832178 11 60926122 61097438 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449278,nssv1449277 M 95 1 1 C11orf66,CPSF7,LRRC10B,MIR4488,SDHAF2,SYT7 nsv897603 11 60945713 61133546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530722 S 6533 0 1 C11orf66,CPSF7,LRRC10B,MIR4488,SDHAF2,SYT7 MS10311 nsv518592 11 61005959 61011591 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696039 S 2026 0 1 C11orf66 nsv818837 11 61005959 61022270 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417720 S 112 1 0 C11orf66 NA18999 nsv818838 11 61016327 61018093 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417557 S 112 0 1 "" NA18971 nsv468582 11 61016327 61127859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543695 S 1557 0 1 LRRC10B,MIR4488,SYT7 NINDS_61 nsv825938 11 61030257 61099563 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439141 S 31 1 0 LRRC10B,MIR4488,SYT7 NA18973 nsv897604 11 61082790 61119554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510005 S 6533 0 1 SYT7 SP54956 nsv342 11 61083960 61117683 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8917 S 9 1 0 SYT7 NA12156 nsv832179 11 61129847 61281576 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449279 S 95 0 1 C11orf9,DAGLA,DKFZP434K028,RPLP0P2 dgv1152n71 11 61191108 61319861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897606,nsv897605 M 6533 0 2 C11orf10,C11orf9,DAGLA,DKFZP434K028,FEN1,MIR611 IS37646,MS10311 esv1003572 11 61201816 61213788 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564710 S 3 0 1 DAGLA HuRef nsv528697 11 61214433 61443609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705343 S 2026 0 1 C11orf10,C11orf9,DAGLA,DKFZP434K028,FADS1,FADS2,FADS3,FEN1,MIR1908,MIR611,RAB3IL1 nsv897607 11 61219964 61280695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549824 S 6533 0 1 C11orf9,DAGLA,DKFZP434K028 MS18276 dgv1153n71 11 61231809 61316837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897609,nsv897610,nsv897608 M 6533 0 3 C11orf10,C11orf9,DAGLA,DKFZP434K028,FEN1,MIR611 IS41634,MS10769,MS16153 nsv897611 11 61262159 61282306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511455 S 6533 0 1 C11orf9,DAGLA,DKFZP434K028 SP55021 nsv897612 11 61262159 61307932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510006 S 6533 0 1 C11orf9,DAGLA,DKFZP434K028 SP54956 nsv343 11 61294746 61326534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5361 S 9 1 0 C11orf10,C11orf9,FADS1,FEN1,MIR611 NA19129 nsv897613 11 61326406 61435152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543604 S 6533 0 1 FADS1,FADS2,FADS3,MIR1908,RAB3IL1 MS16153 nsv897614 11 61337211 61411881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530724 S 6533 0 1 FADS1,FADS2,FADS3,MIR1908 MS10311 nsv468585 11 61372588 61421568 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543697 S 1557 0 1 FADS2,FADS3,RAB3IL1 1780854206_A esv1430661 11 61392124 61392258 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880457 S 2 0 1 "" HuRef nsv897615 11 61409090 61426522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510845 S 6533 0 1 FADS3,RAB3IL1 SP54988 nsv897616 11 61409090 61443609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510007 S 6533 0 1 FADS3,RAB3IL1 SP54956 nsv897617 11 61479221 61500918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510008 S 6533 0 1 BEST1,FTH1 SP54956 dgv391e1 11 61505378 61650609 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1331,essv705 M 271 0 0 INCENP NA18940 dgv1154n71 11 61507724 61618427 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897618,nsv897619 M 6533 3 0 "" SP50690,SP53670,SP81080 esv2751033 11 61536598 61652300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984070,essv6984071 M 771 1 0 INCENP BEC_768 nsv7219 11 61582856 61665067 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1941,nssv9271 M 9 0 0 INCENP NA18517,NA18555 nsv513692 11 61616358 61623688 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626944 S 1 0 0 "" 1 esv1788411 11 61619532 61624597 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698055 S 2 0 0 "" HuRef nsv513693 11 61620317 61625602 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626945 S 1 0 0 "" 1 nsv897620 11 61636265 61691520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546784 S 6533 0 1 INCENP MS17208 nsv39599 11 61646881 61646970 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58177 M 24 "" esv990646 11 61646890 61646979 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571642 S 3 0 1 "" HuRef esv1476762 11 61646897 61646987 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108199 S 2 0 1 "" HuRef esv997129 11 61648014 61649050 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587151 S 3 1 0 INCENP HuRef esv259660 11 61667002 61667341 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393697,essv2394080,essv2394325 M 6 0 0 Samples from several populations that are part of the HapMap project. INCENP NA19238,NA19239,NA19240 esv259724 11 61667010 61667344 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398632,essv2400200,essv2396086,essv2394750,essv2399032,essv2398494,essv2401119,essv2398925,essv2396018,essv2397592,essv2396784,essv2396656,essv2398682,essv2397954,essv2399250,essv2395010,essv2394932,essv2395107,essv2399593,essv2399855,essv2400404,essv2395541,essv2398928,essv2399002,essv2399464,essv2395361,essv2396177,essv2395436,essv2397727,essv2398770,essv2395213,essv2396430,essv2395925,essv2397091,essv2400473 M 144 0 0 Samples from several populations that are part of the HapMap project. INCENP NA06986,NA07037,NA07346,NA07357,NA10851,NA11894,NA11931,NA11995,NA12003,NA12044,NA12249,NA12414,NA12489,NA12751,NA18508,NA18519,NA18545,NA18550,NA18570,NA18573,NA18592,NA18593,NA18603,NA18605,NA18858,NA18916,NA18944,NA18948,NA18956,NA19005,NA19108,NA19138,NA19238,NA19239,NA19240 esv2480486 11 61667098 61667205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164699 S 1 0 1 INCENP NA18507 esv1010308 11 61683799 61692125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565030 S 3 0 1 "" HuRef esv32929 11 61775508 61775581 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95711 S 51 1 0 "" 21841 esv33305 11 61779416 61833883 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100772 S 51 0 1 SCGB1D4,SCGB2A2 21656 esv27914 11 61784874 61785320 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18504 S 451 1 0 "" NA12044 esv2650166 11 61806560 61807988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178511 S 1 0 1 "" NA18507 esv2061896 11 61806757 61807287 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708530 S 1 0 1 "" NA18507 nsv516460 11 61861513 61910737 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668534,nssv672300 M 2026 2 0 ASRGL1 nsv468586 11 61896645 61939583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543698 S 1557 0 1 ASRGL1 NINDS_271 esv1580794 11 61910533 61910533 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802509 S 2 1 0 ASRGL1 HuRef esv2523474 11 61938752 61940664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183051 S 1 0 1 "" NA18507 nsv832180 11 61958181 62121404 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449280 S 95 0 1 AHNAK,EEF1G,MIR3654,MTA2,TUT1 nsv345 11 61981827 62026830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8918 S 9 0 1 AHNAK NA12156 nsv897621 11 61986885 62046746 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561740 S 6533 0 1 AHNAK MS25205 nsv346 11 62000242 62034168 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8919 S 9 1 0 AHNAK NA12156 nsv832182 11 62052151 62219424 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449284,nssv1449282,nssv1449281 M 95 2 1 AHNAK,B3GAT3,BSCL2,C11orf48,C11orf83,EEF1G,EML3,GANAB,HNRNPUL2-BSCL2,INTS5,LRRN4CL,METTL12,MIR3654,MTA2,ROM1,SNORA57,TUT1,UBXN1 nsv347 11 62053644 62095503 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8920 S 9 0 1 AHNAK,EEF1G,MIR3654 NA12156 nsv825939 11 62082659 62167153 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439142 S 31 1 0 B3GAT3,EEF1G,EML3,GANAB,MIR3654,MTA2,ROM1,TUT1 NA18973 nsv514630 11 62121292 62122236 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627112 S 1414 0 0 MTA2 nsv897622 11 62123562 62148805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510009 S 6533 0 1 B3GAT3,EML3,MTA2,ROM1 SP54956 nsv897623 11 62195395 62360492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576720 S 6533 0 1 BSCL2,C11orf48,C11orf83,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,LRRN4CL,NXF1,POLR2G,STX5,TAF6L,TMEM179B,TMEM223,TTC9C,UBXN1,WDR74,ZBTB3 IS34235 nsv348 11 62231026 62276288 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8921 S 9 0 1 BSCL2,GNG3,HNRNPUL2,HNRNPUL2-BSCL2,TTC9C,ZBTB3 NA12156 esv6013 11 62268840 62269816 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28454 S 1 0 1 "" SJK nsv508636 11 62303690 62401034 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619945 S 4 0 1 NXF1,SLC3A2,SNHG1,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,WDR74 NA15510 nsv509416 11 62303690 62401034 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619376 S 4 1 0 NXF1,SLC3A2,SNHG1,SNORD22,SNORD25,SNORD26,SNORD27,SNORD28,SNORD29,SNORD30,SNORD31,STX5,TAF6L,TMEM179B,TMEM223,WDR74 NA10860 nsv897624 11 62306169 62319917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510010 S 6533 0 1 NXF1,TAF6L,TMEM179B,TMEM223 SP54956 esv991674 11 62345943 62362672 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565578 S 3 0 0 STX5,WDR74 HuRef esv34011 11 62409355 62750278 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CHRM1,SLC22A24,SLC22A25,SLC22A6,SLC22A8,SLC3A2 esv268847 11 62460202 62460310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505109,essv2499455,essv2504196,essv2493781,essv2506267,essv2498603,essv2512303,essv2493022,essv2502719,essv2506407,essv2509419,essv2497649 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12044,NA18505,NA18517,NA18523,NA18858,NA18949,NA18951,NA18965,NA19108,NA19129,NA19147 nsv523357 11 62557724 62595087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699106 S 2026 0 1 "" esv270369 11 62591834 62591919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513947 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv818839 11 62594645 62596243 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418495,nssv1416780,nssv1416781,nssv1418310,nssv1418496 M 112 0 5 "" NA19092,NA19160,NA19161,NA19193,NA19194 nsv517447 11 62594645 62604138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660971,nssv697497,nssv689935,nssv659707,nssv657270,nssv653207,nssv665796,nssv681389,nssv656387,nssv654312,nssv686098,nssv673778,nssv652043,nssv654464,nssv671286,nssv687861,nssv680502,nssv660323,nssv663235,nssv676210,nssv663465 M 2026 0 21 SLC22A24 nsv897625 11 62596243 62638415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503165,nssv1514249 M 6533 0 2 SLC22A24 SP51494,SP55986 nsv897626 11 62596243 62724367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579183 S 6533 0 1 SLC22A24,SLC22A25 IS35028 nsv468587 11 62604094 62648460 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543699 S 1557 0 1 SLC22A24 NINDS_36 nsv522971 11 62605274 62629740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698641 S 2026 0 1 SLC22A24 esv1629652 11 62616579 62616579 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037082 S 2 1 0 SLC22A24 HuRef esv1159693 11 62637102 62637290 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130693 S 2 0 1 SLC22A24 HuRef esv33721 11 62688284 62688505 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100652 S 51 0 1 SLC22A25 21656 nsv897627 11 62741444 62876062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598540 S 6533 0 1 SLC22A10,SLC22A25 IS41317 dgv392e1 11 62801568 62883430 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5758,esv1369 M 271 0 0 SLC22A10 NA18540 nsv507596 11 62810620 62816620 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622920,nssv619046,nssv620267 M 4 3 0 SLC22A10 NA10860,NA15510,NA18994 esv1322248 11 62843376 62843430 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109659 S 2 0 1 "" HuRef esv2653139 11 62901621 62902641 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295055 S 1 1 0 SLC22A9 NA18507 esv268271 11 62902252 62902515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509853,essv2496386,essv2501153,essv2494848,essv2509031,essv2505271,essv2509303,essv2504786,essv2499114,essv2509642,essv2498805,essv2497616,essv2502256 M 157 13 0 Samples from several populations that are part of the HapMap project. SLC22A9 NA18508,NA18510,NA18516,NA18519,NA18522,NA18853,NA18909,NA19099,NA19114,NA19129,NA19138,NA19147,NA19257 nsv349 11 62936696 62949999 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10896 S 9 1 0 "" NA15510 nsv73 11 62936696 62949999 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv73 S 1 1 0 "" NA15510 nsv350 11 62950698 62970249 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6464 S 9 0 1 "" NA12156 nsv351 11 62953136 62974535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1942 S 9 1 0 "" NA18555 nsv468588 11 62989939 63076815 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543700 S 1557 0 1 HRASLS5,LGALS12,RARRES3 1780854205_A nsv509417 11 63009691 63093791 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623421 S 4 1 0 HRASLS2,HRASLS5,LGALS12,RARRES3 NA18994 nsv352 11 63079884 63113698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5362,nssv2869 M 9 2 0 HRASLS2,PLA2G16 NA18555,NA19129 esv33275 11 63125571 63127447 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100914 S 51 0 1 PLA2G16 21656 esv32927 11 63133853 63144499 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99889 S 51 1 0 PLA2G16 22086 nsv353 11 63167792 63185074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8922 S 9 0 1 ATL3 NA12156 nsv832183 11 63173254 63321141 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449285,nssv1449286 M 95 0 2 ATL3,C11orf95,RTN3 nsv897628 11 63213054 63264910 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517594 S 6533 1 0 RTN3 SP57324 nsv825940 11 63221654 63222303 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428536 S 31 0 1 RTN3 AK10 esv33170 11 63287171 63287925 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94613 S 51 1 0 C11orf95 21932 esv24244 11 63292220 63293490 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10053 S 451 0 1 C11orf95 NA11931 nsv512231 11 63324584 63326064 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624802 S 1 0 1 "" 1 esv33730 11 63337776 63342661 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99946 S 51 1 0 C11orf84 22086 dgv1155n71 11 63421458 63681022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897629,nsv897630 M 6533 0 2 COX8A,FLRT1,MACROD1,MARK2,NAA40,OTUB1,RCOR2 IS33684,MS10311 dgv1156n71 11 63421458 63906946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897646,nsv897631 M 6533 0 2 BAD,C11orf20,CCDC88B,COX8A,DNAJC4,ESRRA,FERMT3,FKBP2,FLRT1,GPR137,KCNK4,MACROD1,MARK2,MIR1237,NAA40,NUDT22,OTUB1,PLCB3,PPP1R14B,PRDX5,RCOR2,RPS6KA4,STIP1,TRMT112,TRPT1,VEGFB IS33504,MS17208 dgv1157n71 11 63427363 63447625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897633,nsv897632 M 6533 0 5 MARK2,RCOR2 SP54225,SP54672,SP54956,SP54988,SP55021 nsv897634 11 63427363 63455114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510527 S 6533 0 1 MARK2,RCOR2 SP54967 dgv1158n71 11 63431502 63447625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897635,nsv897636,nsv897637,nsv897638 M 6533 0 6 MARK2,RCOR2 SP51109,SP54043,SP54591,SP54725,SP55019,SP81010 nsv897639 11 63447625 63601259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538666 S 6533 0 1 COX8A,MACROD1,NAA40,OTUB1 MS13770 nsv512232 11 63452794 63458301 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624803 S 1 0 1 "" 1 esv2541871 11 63455104 63456179 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244505 S 1 1 0 "" NA18507 esv7111 11 63455483 63458237 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29552 S 1 0 1 "" SJK nsv825941 11 63480852 63481425 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432309 S 31 1 0 NAA40 AK20 esv29993 11 63495218 63620787 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84232 S 2 0 1 COX8A,MACROD1,OTUB1 HuRef dgv1159n71 11 63500728 63601259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897641,nsv897640,nsv897647 M 6533 0 3 MACROD1,OTUB1 IS32737,SP54956,SP54988 nsv897642 11 63500728 63623535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543605 S 6533 0 1 MACROD1,OTUB1 MS16153 dgv1160n71 11 63511562 63632032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897644,nsv897652,nsv897649,nsv897654,nsv897650,nsv897645,nsv897643,nsv897651,nsv897653 M 6533 0 13 FLRT1,MACROD1,OTUB1 IS30197,IS32841,IS33162,IS33248,IS35484,IS37874,IS38403,IS39233,IS40230,IS40799,IS41634,MS10769,MS18276 nsv897648 11 63517745 63530946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507598 S 6533 0 1 MACROD1,OTUB1 SP54725 dgv1161n71 11 63539928 63601259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897655,nsv897656 M 6533 0 2 MACROD1 IS34235,IS37646 dgv15n68 11 63544278 63720108 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832185,nsv832184 M 95 0 9 FLRT1,MACROD1,STIP1 nsv897657 11 63567520 63623535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533788 S 6533 0 1 MACROD1 MS11306 dgv1162n71 11 63567520 63663655 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897658,nsv897659 M 6533 2 0 FLRT1,MACROD1 SP53399,SP55971 nsv354 11 63569027 63603532 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1014 S 9 1 0 MACROD1 NA19240 nsv469961 11 63579516 63842543 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546180 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAD,C11orf20,DNAJC4,ESRRA,FERMT3,FKBP2,FLRT1,GPR137,KCNK4,MACROD1,NUDT22,PLCB3,PPP1R14B,PRDX5,STIP1,TRMT112,TRPT1,VEGFB HGDP00290 dgv1163n71 11 63617402 63906946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897661,nsv897660,nsv897664,nsv897662 M 6533 0 4 BAD,C11orf20,CCDC88B,DNAJC4,ESRRA,FERMT3,FKBP2,FLRT1,GPR137,KCNK4,MACROD1,MIR1237,NUDT22,PLCB3,PPP1R14B,PRDX5,RPS6KA4,STIP1,TRMT112,TRPT1,VEGFB IS37646,IS39233,MS13095,SP54956 nsv356 11 63625423 63669705 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1943 S 9 0 1 FLRT1,MACROD1 NA18555 nsv897663 11 63666729 63718728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572802 S 6533 0 1 MACROD1,STIP1 IS33178 esv996910 11 63670560 63671221 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587226 S 3 0 1 MACROD1 HuRef dgv1164n71 11 63684271 63782720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897666,nsv897665 M 6533 0 2 DNAJC4,FERMT3,FKBP2,MACROD1,NUDT22,PLCB3,PPP1R14B,STIP1,TRPT1,VEGFB IS30369,IS31656 esv1021672 11 63695940 63696067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852240 S 2 0 1 "" HuRef esv1118558 11 63696253 63696558 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875373 S 2 0 1 "" HuRef esv33971 11 63703200 63703275 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94075,essv96895,essv94621,essv100206 M 51 0 4 "" 21802,21817,21932,22286 dgv1165n71 11 63721233 63853809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897669,nsv897668,nsv897672,nsv897670,nsv897667 M 6533 0 7 BAD,C11orf20,DNAJC4,ESRRA,FERMT3,FKBP2,GPR137,KCNK4,NUDT22,PLCB3,PPP1R14B,PRDX5,STIP1,TRMT112,TRPT1,VEGFB IS32322,IS32737,IS35484,MS10311,MS16315,MS17522,SP54988 dgv1166n71 11 63721233 63927076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897682,nsv897671,nsv897679 M 6533 0 3 BAD,C11orf20,CCDC88B,DNAJC4,ESRRA,FERMT3,FKBP2,GPR137,KCNK4,MIR1237,NUDT22,PLCB3,PPP1R14B,PRDX5,RPS6KA4,STIP1,TRMT112,TRPT1,VEGFB IS33684,IS38538,MS18276 nsv825943 11 63722029 63724275 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422028 S 31 1 0 STIP1 NA18997 nsv832186 11 63728836 63926635 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449300,nssv1449299 M 95 0 2 BAD,C11orf20,CCDC88B,DNAJC4,ESRRA,FERMT3,FKBP2,GPR137,KCNK4,MIR1237,NUDT22,PLCB3,PPP1R14B,PRDX5,RPS6KA4,TRMT112,TRPT1,VEGFB esv33774 11 63734670 63735320 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93393 S 51 1 0 FERMT3 22170 dgv1167n71 11 63748157 63782720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897678,nsv897676,nsv897673,nsv897680,nsv897681,nsv897675,nsv897677 M 6533 0 9 DNAJC4,FKBP2,NUDT22,PLCB3,PPP1R14B,TRPT1,VEGFB SP51109,SP54043,SP54225,SP54591,SP54725,SP54750,SP54967,SP55019,SP55021 esv992196 11 63749110 63758931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565564 S 3 0 1 DNAJC4,NUDT22,TRPT1,VEGFB HuRef nsv897674 11 63751268 63762868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508113 S 6533 0 1 DNAJC4,NUDT22,VEGFB SP54672 nsv897683 11 63756663 63762868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514702,nssv1505767,nssv1505794,nssv1505873,nssv1519343 M 6533 0 5 DNAJC4,VEGFB SP53964,SP53969,SP54042,SP56047,SP81010 esv33033 11 63757130 63757826 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93767 S 51 0 1 DNAJC4 21972 esv24861 11 63757841 63774690 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18564 S 451 1 0 DNAJC4,FKBP2,PPP1R14B,VEGFB NA12044 nsv897684 11 63803936 63817552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500918 S 6533 0 1 BAD,GPR137,KCNK4 SP51109 nsv897685 11 63805488 63906946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571916 S 6533 0 1 BAD,C11orf20,CCDC88B,ESRRA,GPR137,KCNK4,MIR1237,PRDX5,RPS6KA4,TRMT112 IS32841 dgv1168n71 11 63805597 63834956 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897686,nsv897687 M 6533 0 3 BAD,C11orf20,ESRRA,GPR137,KCNK4 SP54043,SP54725,SP55021 nsv357 11 63808383 63832837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8923 S 9 1 0 BAD,C11orf20,ESRRA,GPR137,KCNK4 NA12156 esv27107 11 63841994 63843986 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18431 S 451 0 1 PRDX5 NA18907 nsv358 11 63849512 63883813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3958,nssv10824 M 9 2 0 CCDC88B,RPS6KA4 NA12878,NA18956 dgv13n64 11 63853809 63886298 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818841,nsv818840 M 112 0 2 CCDC88B,RPS6KA4 NA18968,NA19003 dgv1169n71 11 63864311 63906946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897688,nsv897689 M 6533 0 2 CCDC88B,MIR1237,RPS6KA4 SP54725,SP54988 dgv1170n71 11 63874998 63894451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897690,nsv897691 M 6533 0 2 CCDC88B,MIR1237,RPS6KA4 SP54937,SP55021 nsv832187 11 63878545 64068876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449301 S 95 0 1 CCDC88B,MIR1237,RPS6KA4 nsv825944 11 63900918 63902462 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422029 S 31 1 0 "" NA18997 esv2091211 11 64024845 64025261 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989012 S 1 0 1 "" NA18507 esv1244287 11 64025017 64025077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228478 S 2 0 1 "" HuRef nsv897692 11 64062028 64143102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549827 S 6533 0 1 NRXN2,SLC22A11,SLC22A12 MS18276 nsv897693 11 64062028 64197496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546786 S 6533 0 1 NRXN2,SLC22A11,SLC22A12 MS17208 esv2422214 11 64069067 64239994 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161405 S 181 0 1 NRXN2,SLC22A11,SLC22A12 ND04575 nsv832188 11 64071944 64241785 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449305,nssv1449306,nssv1449303,nssv1449302,nssv1449304 M 95 5 0 NRXN2,SLC22A11,SLC22A12 nsv825945 11 64089973 64090687 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422031 S 31 1 0 SLC22A11 NA18997 nsv897694 11 64090690 64341535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571519 S 6533 0 1 MAP4K2,MEN1,NRXN2,PYGM,RASGRP2,SF1,SLC22A11,SLC22A12 IS32737 nsv818842 11 64102024 64302967 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415686 S 112 1 0 NRXN2,PYGM,RASGRP2,SF1,SLC22A12 NA12248 nsv528506 11 64102024 64457606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705113 S 2026 0 1 ATG2A,CDC42BPG,EHD1,MAP4K2,MEN1,MIR192,MIR194-2,NRXN2,PPP2R5B,PYGM,RASGRP2,SF1,SLC22A12 dgv1171n71 11 64113648 64457606 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897695,nsv897700 M 6533 0 2 ATG2A,CDC42BPG,EHD1,MAP4K2,MEN1,MIR192,MIR194-2,NRXN2,PPP2R5B,PYGM,RASGRP2,SF1,SLC22A12 IS34235,IS39233 nsv897696 11 64122372 64169453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510014 S 6533 0 1 NRXN2,SLC22A12 SP54956 esv28928 11 64164250 64166451 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16846 S 451 1 0 NRXN2 NA12156 dgv1172n71 11 64203996 64394617 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897699,nsv897697,nsv897698 M 6533 0 5 CDC42BPG,EHD1,MAP4K2,MEN1,NRXN2,PYGM,RASGRP2,SF1 IS32841,IS33504,IS33684,IS37646,IS40828 esv2516770 11 64229841 64230740 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247545 S 1 1 0 NRXN2 NA18507 esv1090895 11 64230208 64230208 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950102 S 2 1 0 NRXN2 HuRef nsv359 11 64233584 64259449 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8925 S 9 0 1 NRXN2,RASGRP2 NA12156 dgv153n27 11 64233626 64341535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468597,nsv468598 M 1557 0 2 MAP4K2,MEN1,NRXN2,PYGM,RASGRP2,SF1 1780862093_A,1782681313_A nsv832189 11 64243759 64376775 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449310,nssv1449309,nssv1449308 M 95 0 3 CDC42BPG,MAP4K2,MEN1,NRXN2,PYGM,RASGRP2,SF1 nsv825946 11 64258301 64258766 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422032 S 31 1 0 RASGRP2 NA18997 nsv897701 11 64258567 64277145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510015 S 6533 0 1 PYGM,RASGRP2 SP54956 esv1261955 11 64283064 64283064 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178522 S 2 1 0 PYGM HuRef nsv469962 11 64283656 64378149 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546181 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDC42BPG,EHD1,MAP4K2,MEN1,PYGM,SF1 HGDP00661 nsv897702 11 64289155 64340807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510016 S 6533 0 1 MAP4K2,MEN1,SF1 SP54956 dgv225n67 11 64294668 64307503 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825948,nsv825947 M 31 2 0 SF1 AK6,NA18969 nsv897703 11 64294922 64330776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511460 S 6533 0 1 MAP4K2,MEN1,SF1 SP55021 dgv72n21 11 64302967 64341563 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519478,nsv519117 M 2026 0 2 MAP4K2,MEN1 nsv825949 11 64333942 64347733 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422033 S 31 1 0 MEN1 NA18997 dgv1173n71 11 64341563 64478484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897707,nsv897708,nsv897705,nsv897706,nsv897704 M 6533 0 6 ATG2A,C11orf85,CDC42BPG,EHD1,GPHA2,MIR192,MIR194-2,PPP2R5B IS38538,MS16153,MS16315,MS17208,MS18276,SP54956 esv2224954 11 64379784 64380195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605423 S 1 0 1 EHD1 NA18507 esv3653 11 64379866 64380099 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26094 S 1 0 1 Single Asian sample YH EHD1 YH esv989116 11 64379909 64380004 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583782 S 3 0 1 EHD1 HuRef esv1447546 11 64379982 64380078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905594 S 2 0 1 EHD1 HuRef nsv39166 11 64379983 64380078 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57744 M 24 EHD1 esv992888 11 64381213 64382770 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564701 S 3 0 1 EHD1 HuRef nsv360 11 64388971 64416212 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8926 S 9 0 1 EHD1,MIR192,MIR194-2 NA12156 nsv526181 11 64394617 65013905 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702443 S 2026 1 0 ARL2,ARL2-SNX15,ATG2A,BATF2,C11orf2,C11orf85,CAPN1,CDC42EP2,CDCA5,DPF2,EHD1,FAU,FRMD8,GPHA2,LOC100130348,MIR192,MIR194-2,MIR612,MRPL49,NAALADL1,NEAT1,POLA2,PPP2R5B,SAC3D1,SLC22A20,SLC25A45,SNX15,SPDYC,SYVN1,TIGD3,TM7SF2,ZFPL1,ZNHIT2 esv32668 11 64499646 64514663 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93713,essv100287 M 51 2 0 BATF2 21972,22286 esv2750762 11 64515533 64517684 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93671 S 51 0 1 BATF2 21972 dgv1174n71 11 64529121 64656846 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897710,nsv897711,nsv897709 M 6533 0 3 ARL2,ARL2-SNX15,C11orf2,CDCA5,FAU,LOC100130348,MRPL49,NAALADL1,SAC3D1,SNX15,SYVN1,TM7SF2,ZFPL1,ZNHIT2 IS34235,IS35484,MS17208 nsv897712 11 64613271 64639365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510018 S 6533 0 1 C11orf2,TM7SF2 SP54956 nsv897713 11 64671618 64757295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546789 S 6533 0 1 CAPN1,SLC22A20,SPDYC MS17208 nsv509418 11 64688578 64726828 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619380 S 4 1 0 CAPN1,SPDYC NA10860 nsv832190 11 64734720 64884189 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449311 S 95 0 1 CAPN1,CDC42EP2,DPF2,POLA2,SLC22A20,TIGD3 esv2422285 11 64769870 65011116 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161335 S 181 0 1 CDC42EP2,DPF2,FRMD8,MIR612,NEAT1,POLA2,SLC25A45,TIGD3 ND04575 nsv897714 11 64833494 64848185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510019 S 6533 0 1 CDC42EP2 SP54956 dgv1175n71 11 64840067 65237742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897715,nsv897716 M 6533 0 2 CDC42EP2,DPF2,EHBP1L1,FAM89B,FRMD8,KAT5,KCNK7,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR612,NEAT1,PCNXL3,RELA,SCYL1,SIPA1,SLC25A45,SSSCA1,TIGD3 IS34235,IS37646 nsv825950 11 64859972 64862546 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422034 S 31 1 0 DPF2 NA18997 nsv482159 11 64878858 64881658 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558520 S 1 1 0 TIGD3 KB1 nsv897717 11 64896785 65035037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598684 S 6533 0 1 FRMD8,MALAT1,MIR612,NEAT1,SLC25A45 IS41243 nsv897718 11 64896785 65334092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530727 S 6533 0 1 DKFZp761E198,EHBP1L1,FAM89B,FRMD8,KAT5,KCNK7,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,MIR612,NEAT1,OVOL1,PCNXL3,RELA,RNASEH2C,SCYL1,SIPA1,SLC25A45,SSSCA1 MS10311 nsv897719 11 64913670 65092281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581315 S 6533 0 1 FRMD8,LTBP3,MALAT1,MIR612,NEAT1,SCYL1 IS35566 nsv897720 11 64970010 65202526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510020 S 6533 0 1 EHBP1L1,FAM89B,KCNK7,LOC254100,LTBP3,MALAT1,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SCYL1,SIPA1,SSSCA1 SP54956 esv32703 11 64970436 64978602 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93324 S 51 1 0 "" 22170 esv1567058 11 64975302 64975351 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033753 S 2 0 1 "" HuRef esv1740343 11 64975510 64975638 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958459 S 2 0 1 "" HuRef esv23728 11 65023163 65030106 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20791,esv18676 M 451 0 37 MALAT1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv825951 11 65026309 65026767 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422035 S 31 1 0 MALAT1 NA18997 nsv820139 11 65026791 65027950 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419186 S 2 0 1 MALAT1 AK1 dgv1176n71 11 65035037 65193464 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897721,nsv897722 M 6533 0 2 EHBP1L1,FAM89B,KCNK7,LOC254100,LTBP3,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SCYL1,SIPA1,SSSCA1 IS32322,IS33504 nsv513320 11 65040199 65040434 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625707 S 1 1 0 "" 1 esv2427734 11 65040229 65040538 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369709 S 1 1 0 "" NA18507 nsv361 11 65044882 65058887 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3959 S 9 1 0 SCYL1 NA12878 nsv897723 11 65051406 65237742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580891 S 6533 0 1 EHBP1L1,FAM89B,KAT5,KCNK7,LOC254100,LTBP3,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SCYL1,SIPA1,SSSCA1 IS35484 dgv1177n71 11 65056828 65067981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897724,nsv897725,nsv897727 M 6533 0 5 LTBP3,SCYL1 SP54042,SP54593,SP55019,SP55021,SP55056 dgv1178n71 11 65056828 65079124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897729,nsv897726,nsv897728,nsv897731 M 6533 0 5 LTBP3,SCYL1 SP54043,SP54725,SP54750,SP54937,SP54988 nsv897730 11 65059469 65133060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501861 S 6533 0 1 EHBP1L1,FAM89B,KCNK7,LOC254100,LTBP3,MAP3K11,SCYL1,SSSCA1 SP51109 esv987755 11 65064761 65064761 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581458 S 3 1 0 LTBP3 HuRef esv1637796 11 65064784 65064784 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808331 S 2 1 0 LTBP3 HuRef dgv1179n71 11 65092281 65193464 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897732,nsv897733,nsv897734,nsv897746 M 6533 0 9 EHBP1L1,FAM89B,KCNK7,LOC254100,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SIPA1,SSSCA1 IS32737,IS33178,IS33601,IS33684,IS37172,IS39417,IS40396,IS40449,IS40828 dgv1180n71 11 65092281 65237742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897735,nsv897747 M 6533 0 2 EHBP1L1,FAM89B,KAT5,KCNK7,LOC254100,MAP3K11,MIR4489,MIR4690,PCNXL3,RELA,SIPA1,SSSCA1 IS33475,IS33797 nsv897736 11 65092281 65433092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546790,nssv1592274 M 6533 0 2 CCDC85B,CFL1,CTSW,DKFZp761E198,EFEMP2,EHBP1L1,FAM89B,FIBP,FOSL1,KAT5,KCNK7,LOC254100,MAP3K11,MIR4489,MIR4690,MUS81,OVOL1,PCNXL3,RELA,RNASEH2C,SIPA1,SNX32,SSSCA1 IS39233,MS17208 dgv1181n71 11 65094290 65123829 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897744,nsv897745,nsv897737 M 6533 0 6 EHBP1L1,FAM89B,KCNK7,LOC254100,MAP3K11,SSSCA1 SP54042,SP54225,SP54591,SP54593,SP54750,SP54967 dgv1182n71 11 65094290 65139140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897738,nsv897742,nsv897741,nsv897743,nsv897740 M 6533 0 6 EHBP1L1,FAM89B,KCNK7,LOC254100,MAP3K11,SSSCA1 SP54043,SP54672,SP54937,SP54988,SP55019,SP55021 nsv897739 11 65094290 65144876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508285 S 6533 0 1 EHBP1L1,FAM89B,KCNK7,LOC254100,MAP3K11,PCNXL3,SSSCA1 SP54725 nsv39227 11 65120899 65120977 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57805 M 24 "" nsv897748 11 65149271 65223487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588227 S 6533 0 1 MIR4489,MIR4690,PCNXL3,RELA,SIPA1 IS38176 dgv1183n71 11 65158324 65181743 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897750,nsv897749,nsv897751 M 6533 0 3 MIR4489,MIR4690,PCNXL3,RELA,SIPA1 SP54225,SP54593,SP55021 dgv1184n71 11 65161876 65184144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897752,nsv897753,nsv897757,nsv897756 M 6533 0 4 MIR4489,RELA,SIPA1 SP54043,SP54725,SP54988,SP55019 nsv897754 11 65161876 65193464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501344 S 6533 0 1 MIR4489,RELA,SIPA1 SP51109 nsv897755 11 65161876 65237742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597146 S 6533 1 0 KAT5,MIR4489,RELA,SIPA1 IS40744 nsv897758 11 65247332 65320611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510021 S 6533 0 1 DKFZp761E198,OVOL1 SP54956 esv267962 11 65260033 65260360 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565572,essv2521068,essv2526090,essv2542518,essv2522775,essv2544045,essv2570869,essv2568143,essv2545314,essv2531946,essv2577407,essv2570370,essv2548349,essv2521632,essv2576615,essv2550756,essv2525369,essv2535361,essv2554216,essv2544368,essv2552014,essv2520324,essv2547223,essv2529075,essv2558480,essv2577664,essv2553714,essv2565546,essv2519980,essv2564307,essv2530817,essv2561866,essv2537330,essv2528180,essv2546893,essv2540089,essv2520939,essv2556874,essv2551748,essv2532125,essv2562606,essv2569402,essv2550061,essv2538995,essv2527074,essv2561735,essv2562923,essv2541148,essv2524719,essv2564973,essv2534792,essv2539606,essv2549176,essv2522277,essv2532758,essv2528671,essv2567428,essv2570349,essv2563874,essv2535575,essv2572342,essv2542044,essv2551060,essv2569102,essv2543538,essv2556343,essv2562465,essv2572943,essv2555375,essv2533554,essv2530090,essv2573909,essv2527571,essv2534376,essv2522353,essv2573400,essv2577016,essv2525635,essv2526750,essv2529786,essv2575442,essv2526390,essv2560700,essv2523977,essv2568759,essv2545228,essv2560453,essv2549758,essv2546023,essv2537923,essv2548965,essv2533311,essv2554597,essv2547675,essv2524764,essv2563558,essv2557832 M 157 97 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18504,NA18505,NA18507,NA18508,NA18511,NA18519,NA18522,NA18523,NA18532,NA18545,NA18555,NA18558,NA18561,NA18563,NA18564,NA18571,NA18576,NA18579,NA18582,NA18593,NA18603,NA18608,NA18609,NA18856,NA18858,NA18861,NA18870,NA18871,NA18909,NA18942,NA18943,NA18944,NA18949,NA18951,NA18952,NA18959,NA18960,NA18964,NA18970,NA18980,NA19005,NA19093,NA19099,NA19114,NA19116,NA19129,NA19147,NA19172,NA19190,NA19225,NA19239 esv272546 11 65260034 65260361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581835,essv2582463,essv2583265,essv2584717 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv1092719 11 65260060 65260060 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697472 S 2 1 0 "" HuRef nsv897759 11 65300403 65311078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507859 S 6533 0 1 DKFZp761E198 SP54725 nsv897760 11 65301882 65315842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509667 S 6533 0 1 DKFZp761E198,OVOL1 SP54937 dgv393e1 11 65316469 65478939 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5312,esv270,essv22372 M 271 0 0 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,FIBP,FOSL1,MUS81,OVOL1,SNX32,TSGA10IP NA12875,NA18563 esv23177 11 65330340 65336652 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10330 S 451 0 1 "" NA18916 dgv1185n71 11 65337214 65515430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897762,nsv897761,nsv897765 M 6533 0 3 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,FIBP,FOSL1,MUS81,SART1,SNX32,TSGA10IP IS30369,IS34304,MS16153 esv998472 11 65337938 65341702 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564275 S 3 0 1 "" HuRef nsv897763 11 65369924 65400603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510853 S 6533 0 1 CFL1,EFEMP2,MUS81,SNX32 SP54988 nsv897764 11 65369924 65451798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510022 S 6533 0 1 C11orf68,CCDC85B,CFL1,CTSW,DRAP1,EFEMP2,FIBP,FOSL1,MUS81,SNX32 SP54956 nsv897766 11 65380601 65400603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509022 S 6533 0 1 CFL1,EFEMP2,MUS81 SP54725 nsv832191 11 65388905 65562696 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449313,nssv1449312 M 95 0 2 BANF1,C11orf68,CATSPER1,CCDC85B,CST6,CTSW,DRAP1,EFEMP2,EIF1AD,FIBP,FOSL1,MUS81,SART1,TSGA10IP esv999644 11 65392743 65402610 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564562 S 3 0 1 EFEMP2 HuRef nsv511466 11 65397482 65399017 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626081 S 1 0 1 "" 1 esv4089 11 65398615 65400144 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26530 S 1 0 1 Single Asian sample YH "" YH nsv512233 11 65398627 65400096 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624804 S 1 0 1 "" 1 esv22006 11 65398676 65399817 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19751 S 451 0 3 "" NA12489,NA18502,NA18909 nsv821109 11 65398676 65399817 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420951 S 1 0 1 "" NA10851 esv8148 11 65398690 65400099 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30589 S 1 0 1 "" SJK nsv39194 11 65422106 65429033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57772 M 24 FOSL1 nsv897767 11 65440107 65446782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510854 S 6533 0 1 C11orf68,DRAP1 SP54988 dgv1186n71 11 65471786 65598640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897769,nsv897768 M 6533 0 2 BANF1,CATSPER1,CST6,EIF1AD,GAL3ST3,PACS1,SART1,SF3B2,TSGA10IP MS17208,SP54956 esv25439 11 65494728 65495638 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14073 S 451 0 1 SART1 NA18505 esv1062790 11 65494898 65494898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751472 S 2 1 0 SART1 HuRef nsv819658 11 65514332 65521478 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419809 S 2 0 1 EIF1AD AK1 nsv825952 11 65533093 65536408 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436908 S 31 1 0 CST6 NA18542 nsv825954 11 65549416 65560046 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439883 S 31 0 1 CATSPER1 NA18537 nsv897770 11 65560326 65581048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511464 S 6533 0 1 GAL3ST3,SF3B2 SP55021 nsv362 11 65683714 65705369 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1015 S 9 0 1 PACS1 NA19240 nsv517090 11 65684349 65691765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693092,nssv661270,nssv674079,nssv687441,nssv669371,nssv683045,nssv662191,nssv653851,nssv666549,nssv661871,nssv673779,nssv689744,nssv684902,nssv684043,nssv666891,nssv680503,nssv656388,nssv676316,nssv653770,nssv679870 M 2026 0 20 PACS1 nsv818843 11 65684349 65691765 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416663,nssv1416662 M 112 0 2 PACS1 NA19116,NA19120 nsv498760 11 65690474 65695916 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586538 S 9 0 1 PACS1 esv25273 11 65690518 65696114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11084 S 451 0 7 PACS1 NA18502,NA18517,NA18916,NA19147,NA19225,NA19240,NA19257 nsv514631 11 65690532 65694520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628108 S 1414 0 1 PACS1 esv273091 11 65740811 65741114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580201,essv2580499,essv2579872 M 7 3 0 Samples from several populations that are part of the HapMap project. PACS1 NA12878,NA12891,NA12892 esv270067 11 65740865 65741234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511037,essv2505128,essv2502340,essv2499495,essv2505526,essv2510296,essv2495912,essv2508558,essv2496867,essv2511716,essv2510595,essv2493160,essv2504062,essv2509841,essv2503336,essv2497271,essv2512957,essv2497227,essv2508224,essv2507866,essv2511288,essv2500592,essv2512638,essv2508163,essv2508617,essv2512855,essv2504948,essv2511114,essv2497869,essv2502407,essv2503757,essv2495950,essv2495195,essv2501523,essv2504662,essv2498828,essv2496917,essv2511976,essv2503942,essv2495077 M 157 40 0 Samples from several populations that are part of the HapMap project. PACS1 NA07037,NA07051,NA11831,NA11995,NA12004,NA12044,NA12154,NA12414,NA12489,NA12717,NA18498,NA18499,NA18501,NA18504,NA18505,NA18508,NA18542,NA18545,NA18547,NA18552,NA18561,NA18564,NA18570,NA18571,NA18577,NA18579,NA18592,NA18609,NA18942,NA18944,NA18945,NA18948,NA18960,NA18961,NA18964,NA19093,NA19099,NA19138,NA19190,NA19238 esv268061 11 65764796 65765156 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496591,essv2511918,essv2509039,essv2506147,essv2497172,essv2499946,essv2504537,essv2507662,essv2508710,essv2509993,essv2496061,essv2507569,essv2505228,essv2498516,essv2505893,essv2493952,essv2513284,essv2509290,essv2504912,essv2512341,essv2505402,essv2495949,essv2500708,essv2505653,essv2504802,essv2506510,essv2499122,essv2510865,essv2509584,essv2497003 M 157 30 0 Samples from several populations that are part of the HapMap project. PACS1 NA18486,NA18499,NA18522,NA18523,NA18552,NA18558,NA18563,NA18576,NA18592,NA18593,NA18603,NA18638,NA18853,NA18858,NA18861,NA18871,NA18907,NA18909,NA18942,NA18949,NA18952,NA18961,NA18973,NA19005,NA19099,NA19108,NA19114,NA19116,NA19129,NA19190 esv1000442 11 65765081 65785114 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564035 S 3 0 0 KLC2,PACS1 HuRef dgv1187n71 11 65767856 66119573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897771,nsv897780 M 6533 0 2 ACTN3,B3GNT1,BBS1,BRMS1,CCDC87,CCS,CD248,CNIH2,CTSF,DPP3,KLC2,MRPL11,NPAS4,PACS1,PELI3,RAB1B,RIN1,SLC29A2,TMEM151A,YIF1A,ZDHHC24 IS37646,MS10311 nsv513694 11 65772938 65776319 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626946 S 1 0 0 "" 1 nsv897772 11 65774731 66010661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510024 S 6533 0 1 B3GNT1,BRMS1,CD248,CNIH2,DPP3,KLC2,MRPL11,NPAS4,PELI3,RAB1B,RIN1,SLC29A2,TMEM151A,YIF1A SP54956 nsv513695 11 65775758 65779011 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626947 S 1 0 0 "" 1 nsv825955 11 65792546 65793082 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422036 S 31 1 0 RAB1B NA18997 dgv1188n71 11 65798383 65822925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897773,nsv897776,nsv897775,nsv897778,nsv897777,nsv897774 M 6533 0 7 CNIH2,RAB1B,TMEM151A,YIF1A SP53969,SP54043,SP54591,SP54725,SP54988,SP55019,SP55021 nsv897779 11 65804099 65820230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506357 S 6533 0 1 CNIH2,TMEM151A,YIF1A SP54225 nsv825956 11 65808140 65808633 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436909 S 31 1 0 CNIH2,YIF1A NA18542 esv32849 11 65815610 65816862 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93706 S 51 1 0 TMEM151A 21972 dgv1189n71 11 65852543 65873487 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897782,nsv897781 M 6533 0 2 B3GNT1,BRMS1,RIN1 SP54043,SP54988 nsv897783 11 65864103 65875252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512009 S 6533 0 1 B3GNT1,BRMS1 SP55257 dgv1190n71 11 65868477 65879619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897784,nsv897785 M 6533 0 2 B3GNT1,BRMS1 SP51109,SP54725 nsv832193 11 65876915 66035381 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449314 S 95 0 1 BBS1,DPP3,MRPL11,NPAS4,PELI3,SLC29A2 esv1195081 11 65918690 65918690 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313685 S 2 1 0 "" HuRef esv989759 11 65918690 65921209 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564482 S 3 1 0 "" HuRef nsv897786 11 65959601 66000591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510857 S 6533 0 1 MRPL11,PELI3 SP54988 esv2442439 11 65983811 65985543 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352470 S 1 0 1 "" NA18507 esv2504663 11 65985856 65986985 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333955 S 1 1 0 "" NA18507 nsv468601 11 65990599 66052690 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543704 S 1557 0 1 BBS1,DPP3,PELI3 1780862448_A nsv522277 11 65990599 66250401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695058 S 2026 0 1 ACTN3,BBS1,CCDC87,CCS,CTSF,DPP3,PELI3,RBM14,RBM14-RBM4,RBM4,RBM4B,SPTBN2,ZDHHC24 nsv897787 11 66056924 66104426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510025 S 6533 0 1 ACTN3,BBS1,CTSF,ZDHHC24 SP54956 nsv897788 11 66075838 66104426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510858 S 6533 0 1 ACTN3,CTSF SP54988 nsv363 11 66121953 66153157 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3960 S 9 1 0 CCS,RBM14,RBM14-RBM4 NA12878 nsv513321 11 66122345 66122662 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625708 S 1 1 0 CCS 1 nsv897789 11 66128966 66390973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572046 S 6533 1 0 C11orf80,CCS,LRFN4,PC,RBM14,RBM14-RBM4,RBM4,RBM4B,RCE1,SPTBN2 IS32843 nsv518919 11 66165985 66225045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696380 S 2026 0 1 RBM14-RBM4,RBM4,RBM4B,SPTBN2 esv990794 11 66167662 66184668 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565613 S 3 0 0 RBM14-RBM4,RBM4 HuRef nsv897790 11 66171491 66382810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586514 S 6533 0 1 C11orf80,LRFN4,PC,RBM4,RBM4B,RCE1,SPTBN2 IS37848 nsv897791 11 66199431 66290045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510026 S 6533 0 1 C11orf80,RBM4B,SPTBN2 SP54956 nsv468602 11 66225045 66390973 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543705 S 1557 0 1 C11orf80,LRFN4,PC,RCE1,SPTBN2 1782681216_A dgv1191n71 11 66242719 66290045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897793,nsv897792 M 6533 0 2 C11orf80,SPTBN2 SP51109,SP55021 nsv516087 11 66272625 66336148 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680957,nssv663664,nssv666120,nssv676680,nssv682696,nssv688545,nssv667561 M 2026 7 0 C11orf80 nsv508638 11 66298229 66400210 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622517 S 4 0 1 C11orf80,LRFN4,PC,RCE1 NA18994 nsv897794 11 66336148 66500695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536903 S 6533 0 1 C11orf80,C11orf86,LRFN4,PC,RCE1 MS13011 nsv364 11 66359769 66371914 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3961 S 9 1 0 C11orf80,RCE1 NA12878 nsv897795 11 66365097 66394502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510027 S 6533 0 1 C11orf80,LRFN4,PC,RCE1 SP54956 nsv832194 11 66391038 66562556 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449315,nssv1449316,nssv1449320,nssv1449319,nssv1449317 M 95 3 2 C11orf86,PC,SYT12 nsv819751 11 66466128 66471601 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419709 S 2 1 0 PC AK1 esv2457482 11 66467356 66470485 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183491 S 1 0 1 PC NA18507 esv995385 11 66468525 66469992 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586981 S 3 1 0 PC HuRef nsv821590 11 66468525 66469992 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420952 S 1 0 1 PC NA10851 nsv825957 11 66468525 66469992 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430036,nssv1440559,nssv1431537,nssv1439143,nssv1429014,nssv1427720,nssv1436076,nssv1435325,nssv1425214,nssv1422037,nssv1441349,nssv1426938,nssv1429299,nssv1430585,nssv1428530,nssv1426017,nssv1424448,nssv1422832,nssv1437666,nssv1428537,nssv1436910,nssv1432310,nssv1434615,nssv1430810,nssv1423649 M 31 0 25 PC AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18968,NA18969,NA18973,NA18997,NA18999 esv995606 11 66468725 66469689 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586603 S 3 1 0 PC HuRef esv25520 11 66468725 66469836 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13515 S 451 31 0 PC NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19225,NA19240,NA19257 esv32822 11 66468753 66469671 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93837,essv95206,essv94374,essv97792,essv95507,essv93027,essv97391,essv101667,essv94513,essv92689,essv93727,essv96165,essv93450,essv93179,essv97721,essv100263,essv98376 M 51 11 6 PC 21634,21721,21808,21837,21847,21863,21879,21909,21932,21944,21972,22007,22128,22170,22278,22286,22352 esv25331 11 66599951 66601483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11382 S 451 0 1 "" NA12006 nsv365 11 66609167 66635822 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6465 S 9 0 1 "" NA12156 esv23935 11 66664005 66673671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19488 S 451 0 1 KDM2A NA11894 nsv825958 11 66737425 66739335 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422038 S 31 1 0 KDM2A NA18997 nsv509419 11 66742434 66766224 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620800 S 4 1 0 KDM2A NA15510 nsv513322 11 66757393 66757653 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625710 S 1 1 0 KDM2A 1 nsv436787 11 66757405 66757808 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466663 S 2 1 0 Samples from several populations that are part of the HapMap project. KDM2A NA18505 esv1081118 11 66757579 66757579 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819215 S 2 1 0 KDM2A HuRef nsv825959 11 66775300 66775914 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422042 S 31 1 0 KDM2A NA18997 nsv897796 11 66778094 66942576 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592275 S 6533 0 1 ADRBK1,ANKRD13D,CARNS1,CLCF1,KDM2A,LOC100130987,POLD4,PPP1CA,RAD9A,SSH3,TBC1D10C IS39233 nsv897797 11 66779616 67049810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510028 S 6533 0 1 ADRBK1,AIP,ANKRD13D,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,GPR152,KDM2A,LOC100130987,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,SSH3,TBC1D10C,TMEM134 SP54956 dgv1192n71 11 66781110 66829199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897799,nsv897798 M 6533 0 2 ADRBK1,ANKRD13D,KDM2A,SSH3 SP51109,SP55021 nsv897800 11 66781110 66842874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510859 S 6533 0 1 ADRBK1,ANKRD13D,KDM2A,LOC100130987,SSH3 SP54988 nsv468603 11 66789652 66921071 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543706 S 1557 0 1 ADRBK1,ANKRD13D,CLCF1,LOC100130987,POLD4,RAD9A,SSH3 1798860210_A nsv897801 11 66789652 67189055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585945 S 6533 0 1 ACY3,ADRBK1,AIP,ALDH3B2,ANKRD13D,CABP2,CABP4,CARNS1,CDK2AP2,CLCF1,CORO1B,DOC2GP,GPR152,GSTP1,LOC100130987,NDUFV1,NUDT8,PITPNM1,POLD4,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,SSH3,TBC1D10C,TBX10,TMEM134 IS37646 nsv897802 11 66807821 66831600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506027 S 6533 0 1 ADRBK1,ANKRD13D,SSH3 SP54043 esv7980 11 66818797 66819576 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30421 S 1 0 0 ANKRD13D SJK nsv897803 11 66823651 66841337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499414 S 6533 0 1 ANKRD13D,SSH3 SP50159 nsv897804 11 66847147 66980854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589926 S 6533 1 0 CABP4,CARNS1,CLCF1,CORO1B,GPR152,LOC100130987,POLD4,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,TBC1D10C IS38430 nsv367 11 66863079 66879107 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6466 S 9 1 0 LOC100130987,POLD4 NA12156 nsv7220 11 66878607 66909679 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6467 S 9 0 0 CLCF1,LOC100130987 NA12156 esv23949 11 66909664 66911974 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14294 S 451 0 3 LOC100130987 NA18508,NA18916,NA19108 dgv1193n71 11 66911786 67050884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897805,nsv897806,nsv897809,nsv897813 M 6533 0 5 AIP,CABP2,CABP4,CARNS1,CDK2AP2,CORO1B,GPR152,LOC100130987,PITPNM1,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,TBC1D10C,TMEM134 IS32322,IS33504,MS16153,MS18276,SP54988 dgv1194n71 11 66911786 67176431 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897807,nsv897808 M 6533 0 2 ACY3,AIP,CABP2,CABP4,CARNS1,CDK2AP2,CORO1B,DOC2GP,GPR152,GSTP1,LOC100130987,NDUFV1,NUDT8,PITPNM1,PPP1CA,PTPRCAP,RAD9A,RPS6KB2,TBC1D10C,TBX10,TMEM134 IS33684,MS10769 esv1010387 11 66920403 66921230 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586836 S 3 0 1 RAD9A HuRef nsv516453 11 66921071 66942576 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676516,nssv682954,nssv669703,nssv668487 M 2026 0 4 CARNS1,PPP1CA,RAD9A,TBC1D10C dgv1195n71 11 66922886 66955463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897812,nsv897810 M 6533 0 2 CARNS1,PPP1CA,RPS6KB2,TBC1D10C SP51109,SP54043 nsv897811 11 66923560 66975485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511468,nssv1511218 M 6533 0 2 CARNS1,CORO1B,GPR152,PPP1CA,PTPRCAP,RPS6KB2,TBC1D10C SP55019,SP55021 nsv521723 11 66932268 67067834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694483 S 2026 0 1 AIP,CABP2,CABP4,CARNS1,CDK2AP2,CORO1B,GPR152,PITPNM1,PTPRCAP,RPS6KB2,TBC1D10C,TMEM134 nsv524096 11 66942576 66981564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699970 S 2026 0 1 CABP4,CARNS1,CORO1B,GPR152,PTPRCAP,RPS6KB2 nsv468604 11 66942576 67040467 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543707 S 1557 0 1 AIP,CABP4,CARNS1,CDK2AP2,CORO1B,GPR152,PITPNM1,PTPRCAP,RPS6KB2,TMEM134 NINDS_173 nsv527056 11 66964002 67050884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703432 S 2026 0 1 AIP,CABP2,CABP4,CDK2AP2,CORO1B,GPR152,PITPNM1,TMEM134 nsv528976 11 66981564 66983582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705675 S 2026 0 1 CABP4 esv2422195 11 66990898 67383477 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161376 S 181 1 0 ACY3,AIP,ALDH3B2,CABP2,CDK2AP2,DOC2GP,FAM86C2P,GSTP1,NDUFV1,NUDT8,PITPNM1,TBX10,TMEM134 ND01659 nsv825960 11 66995220 67007409 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422043 S 31 1 0 AIP NA18997 nsv368 11 67003889 67033913 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5364 S 9 1 0 AIP,CDK2AP2,PITPNM1 NA19129 nsv513323 11 67023020 67023662 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625713 S 1 1 0 PITPNM1 1 esv2550700 11 67023153 67023914 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180792 S 1 1 0 PITPNM1 NA18507 esv1382014 11 67023634 67023634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016868 S 2 1 0 PITPNM1 HuRef esv23202 11 67086933 67088579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12338 S 451 0 1 "" NA11995 dgv1196n71 11 67096525 67217105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897816,nsv897814 M 6533 0 2 ACY3,ALDH3B2,DOC2GP,GSTP1,NDUFV1,NUDT8,TBX10 MS16153,MS17208 nsv897815 11 67104171 67165367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510029 S 6533 0 1 DOC2GP,GSTP1,NDUFV1,NUDT8,TBX10 SP54956 nsv468606 11 67109265 67573512 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543709 S 1557 1 0 ACY3,ALDH3B1,ALDH3B2,DOC2GP,FAM86C2P,GSTP1,MIR4691,NDUFS8,NDUFV1,NUDT8,TBX10,TCIRG1,UNC93B1 NINDS_4 dgv1197n71 11 67129053 67176431 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897817,nsv897818,nsv897824 M 6533 0 7 ACY3,DOC2GP,NDUFV1,NUDT8,TBX10 IS32737,IS33248,IS35484,IS40230,MS16315,MS18276,SP54988 dgv154n27 11 67129053 67190445 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468607,nsv468608 M 1557 0 2 ACY3,ALDH3B2,DOC2GP,NDUFV1,NUDT8,TBX10 1780862003_A,1780862484_A dgv1198n71 11 67129053 67198129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897822,nsv897821,nsv897819 M 6533 0 3 ACY3,ALDH3B2,DOC2GP,NDUFV1,NUDT8,TBX10 IS34235,IS38293,IS39233 dgv1199n71 11 67129053 67217105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897820,nsv897823,nsv897825 M 6533 0 4 ACY3,ALDH3B2,DOC2GP,NDUFV1,NUDT8,TBX10 IS32322,IS33162,IS33504,IS34304 nsv468609 11 67152290 67190445 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543712 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACY3,ALDH3B2,NUDT8,TBX10 HGDP00688 nsv469963 11 67152290 67194771 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546182 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACY3,ALDH3B2,NUDT8,TBX10 HGDP00288 nsv897826 11 67165367 67219125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533789 S 6533 0 1 ACY3,ALDH3B2 MS11306 esv1109673 11 67179084 67179084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921513 S 2 1 0 "" HuRef esv27185 11 67191820 67195095 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10744 S 451 0 2 ALDH3B2 NA07037,NA19147 esv2179266 11 67192643 67193027 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624457 S 1 0 1 ALDH3B2 NA18507 esv1206079 11 67193382 67193734 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361831 S 2 0 1 ALDH3B2 HuRef dgv394e1 11 67229481 67647865 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv710,essv6671,essv19554,essv5774 M 271 0 0 ALDH3B1,CHKA,FAM86C2P,MIR4691,NDUFS8,TCIRG1,UNC93B1 NA12864,NA18540,NA18608 dgv395e1 11 67239060 67538145 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6544,essv7059,essv6928,essv6442,essv4346,essv605,essv3266 M 271 0 0 ALDH3B1,FAM86C2P,UNC93B1 NA18592,NA18608,NA18612,NA18622,NA18624,NA18947,NA18967 dgv1200n71 11 67240404 67310538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897829,nsv897827,nsv897830 M 6533 0 3 "" MS12577,SP51192,SP52161 nsv897828 11 67240404 67505393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509146 S 6533 0 1 FAM86C2P SP54753 dgv1201n71 11 67247906 67381615 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897832,nsv897831 M 6533 4 0 FAM86C2P IS41243,SP51145,SP53317,SP54952 nsv818845 11 67258202 67430258 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417321,nssv1417248 M 112 0 2 FAM86C2P NA18577,NA18608 nsv468610 11 67258202 67471604 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543713 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM86C2P HGDP00697 dgv14n64 11 67258202 67505393 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818847,nsv818846 M 112 0 3 FAM86C2P NA18609,NA18612,NA18987 nsv516191 11 67258202 67505393 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693204,nssv656038,nssv666690,nssv705404,nssv703410,nssv676632,nssv662961 M 2026 3 4 FAM86C2P nsv897833 11 67259791 67505393 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600754,nssv1575604 M 6533 2 0 FAM86C2P IS33776,IS41922 nsv825961 11 67267598 67336358 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435063 S 31 0 1 FAM86C2P NA18592 nsv469719 11 67272762 67434857 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649740 M 265 0 3 Samples from several populations that are part of the HapMap project. FAM86C2P dgv1202n71 11 67274495 67356124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897835,nsv897834 M 6533 0 9 FAM86C2P SP50521,SP50523,SP51025,SP52110,SP52124,SP54405,SP55436,SP55692,SP55791 esv1312968 11 67277145 67277145 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885443 S 2 1 0 "" HuRef nsv428260 11 67281513 67554245 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452128,nssv452127 M 62 2 0 ALDH3B1,FAM86C2P,UNC93B1 HGDP00449,NA19113 nsv825962 11 67298765 67336358 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429026 S 31 0 1 FAM86C2P NA18947 nsv369 11 67325181 67339503 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10826 S 9 1 0 FAM86C2P NA18956 nsv370 11 67347432 67380406 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1944,nssv5365 M 9 2 0 "" NA18555,NA19129 essv3003 11 67367400 67459594 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18981 nsv469856 11 67395613 67616066 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649877 M 265 2 0 Samples from several populations that are part of the HapMap project. ALDH3B1,CHKA,MIR4691,NDUFS8,TCIRG1,UNC93B1 nsv442621 11 67396131 67419050 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv988692 11 67398800 67401418 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581300 S 3 0 1 "" HuRef dgv155n27 11 67416597 67471604 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468611,nsv468612 M 1557 0 2 "" HGDP01189,HGDP01190 esv2047014 11 67418910 67419330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928785 S 1 0 1 "" NA18507 esv995960 11 67419083 67419162 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585749 S 3 0 1 "" HuRef esv1041424 11 67419083 67419163 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055565 S 2 0 1 "" HuRef nsv8836 11 67509455 67576375 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25336 S 31 1 0 Samples from several populations that are part of the HapMap project. ALDH3B1,MIR4691,NDUFS8,TCIRG1,UNC93B1 NA19221 dgv1203n71 11 67513926 67577612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897845,nsv897842,nsv897841,nsv897836,nsv897837 M 6533 0 13 ALDH3B1,CHKA,MIR4691,NDUFS8,TCIRG1,UNC93B1 IS30369,IS32322,IS33504,IS35007,IS37646,IS38293,IS38403,IS39417,MS10769,MS13095,MS16315,MS18276,SP54956 dgv1204n71 11 67513926 67590119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897843,nsv897838 M 6533 0 2 ALDH3B1,CHKA,MIR4691,NDUFS8,TCIRG1,UNC93B1 IS33248,MS17208 nsv482160 11 67515151 67528169 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558521 S 1 1 0 UNC93B1 KB1 nsv825963 11 67520252 67953630 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439144 S 31 1 0 ALDH3B1,C11orf24,CHKA,LRP5,MIR4691,NDUFS8,SUV420H1,TCIRG1,UNC93B1 NA18973 nsv897839 11 67521632 67549590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575731 S 6533 0 1 ALDH3B1,UNC93B1 IS33797 dgv156n27 11 67521632 67556502 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468613,nsv468614 M 1557 0 2 ALDH3B1,NDUFS8,UNC93B1 1780862226_A,HGDP00546 dgv1205n71 11 67521632 67561181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897840,nsv897847 M 6533 0 6 ALDH3B1,MIR4691,NDUFS8,UNC93B1 IS32737,IS32888,IS41634,MS10123,MS10311,MS16153 nsv468615 11 67521632 67573512 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543718 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH3B1,MIR4691,NDUFS8,TCIRG1,UNC93B1 HGDP01339 nsv469964 11 67521632 67577612 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546186,nssv546184,nssv546185,nssv546183 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH3B1,CHKA,MIR4691,NDUFS8,TCIRG1,UNC93B1 HGDP00298,HGDP00302,HGDP00789,HGDP00978 dgv1206n71 11 67529305 67551219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897844,nsv897846 M 6533 0 3 ALDH3B1 IS34235,IS34304,MS11237 dgv1207n71 11 67546413 67577612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897851,nsv897849,nsv897848 M 6533 0 6 ALDH3B1,CHKA,MIR4691,NDUFS8,TCIRG1 IS32841,IS37172,IS40230,MS10698,MS15094,MS25166 nsv897850 11 67549590 67561957 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596057 S 6533 0 1 ALDH3B1,MIR4691,NDUFS8 IS40396 nsv897852 11 67551642 67590119 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589927 S 6533 1 0 ALDH3B1,CHKA,MIR4691,NDUFS8,TCIRG1 IS38430 dgv1208n71 11 67560650 67577612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897853,nsv897854,nsv897856 M 6533 0 3 CHKA,NDUFS8,TCIRG1 SP50159,SP54782,SP54988 nsv897855 11 67562139 67598945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518426 S 6533 0 1 CHKA,TCIRG1 SP57553 nsv825965 11 67577450 67577921 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422044 S 31 1 0 CHKA NA18997 nsv371 11 67638549 67648069 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8927 S 9 0 1 CHKA NA12156 nsv825966 11 67680377 67681078 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422045 S 31 1 0 SUV420H1 NA18997 esv2584634 11 67788233 67788855 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323439 S 1 1 0 C11orf24 NA18507 esv1589088 11 67788592 67788592 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352432 S 2 1 0 C11orf24 HuRef esv1166069 11 67788729 67788729 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992949 S 2 1 0 C11orf24 HuRef nsv897857 11 67813346 67987816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549832 S 6533 0 1 LRP5,PPP6R3 MS18276 esv22055 11 67824417 67825626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19134 S 451 0 1 "" NA07045 esv1655677 11 67825917 67825917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234091 S 2 1 0 "" HuRef dgv1209n71 11 67833814 68050121 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897860,nsv897858 M 6533 0 3 LRP5,PPP6R3 IS37646,MS10311,MS16153 dgv1210n71 11 67858576 67992965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897862,nsv897859 M 6533 0 2 LRP5,PPP6R3 IS33684,MS17208 nsv897861 11 67886182 67953406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559299 S 6533 0 1 LRP5 MS23868 nsv38993 11 67896393 67896393 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57571 M 24 LRP5 esv1742622 11 67896487 67896487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658260 S 2 1 0 LRP5 HuRef nsv469965 11 67897357 67973996 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546188 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP5 HGDP00962 nsv509420 11 67914444 67986240 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623433 S 4 1 0 LRP5,PPP6R3 NA18994 nsv468618 11 67927589 67987816 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543720 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP5,PPP6R3 HGDP00546 esv2572031 11 67939213 67940740 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339053 S 1 0 1 LRP5 NA18507 nsv897863 11 67942968 68008036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510031 S 6533 0 1 LRP5,PPP6R3 SP54956 esv2510779 11 67952833 67953591 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367467 S 1 1 0 LRP5 NA18507 esv1780205 11 67952991 67952991 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344150 S 2 1 0 LRP5 HuRef dgv73n21 11 67955584 67973996 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520841,nsv526402 M 2026 0 2 LRP5 esv29352 11 67984087 67985333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12006 S 451 0 1 PPP6R3 NA12239 nsv832195 11 68042959 68231187 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449322,nssv1449321 M 95 0 2 GAL,PPP6R3 nsv372 11 68067646 68096718 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6468 S 9 0 1 PPP6R3 NA12156 nsv510259 11 68091241 68097241 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621255 S 4 0 1 PPP6R3 NA15510 nsv509421 11 68094241 68200169 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623438,nssv620808 M 4 2 0 PPP6R3 NA15510,NA18994 nsv897864 11 68123583 68210005 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555684 S 6533 0 1 GAL,PPP6R3 MS21515 dgv1211n71 11 68167923 68225246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897866,nsv897865 M 6533 0 2 GAL MS10311,MS16153 esv26535 11 68190622 68191627 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12721 S 451 9 0 "" NA06985,NA11993,NA12044,NA12156,NA12414,NA18505,NA18523,NA19114,NA19257 esv1594761 11 68191057 68191057 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977252 S 2 1 0 "" HuRef nsv509422 11 68258057 68319008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623441 S 4 1 0 CPT1A,MTL5 NA18994 nsv428261 11 68278660 68461879 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452132 S 62 1 0 CPT1A,IGHMBP2,MRPL21 HGDP00463 nsv825967 11 68302948 68303674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426941,nssv1422833 M 31 0 2 CPT1A AK6,NA18552 nsv825968 11 68303178 68303674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427721 S 31 0 1 CPT1A AK8 nsv825969 11 68315455 68389265 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439145 S 31 1 0 CPT1A NA18973 nsv373 11 68334706 68360294 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8928 S 9 0 1 CPT1A NA12156 esv1547185 11 68385757 68385806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3789747 S 2 0 1 "" HuRef nsv509423 11 68398039 68494630 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623446,nssv620811,nssv623444 M 4 2 0 IGHMBP2,MRPL21 NA15510,NA18994 nsv374 11 68400386 68421311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10827,nssv3962 M 9 2 0 MRPL21 NA12878,NA18956 esv996248 11 68411057 68415396 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565614 S 3 1 0 MRPL21 HuRef esv1651635 11 68412935 68412935 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003065 S 2 1 0 "" HuRef nsv897867 11 68448717 68518856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585948 S 6533 0 1 IGHMBP2,MRGPRD IS37646 nsv38626 11 68480021 68480230 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57204 M 24 "" esv2593667 11 68487962 68488338 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229372 S 1 1 0 "" NA18507 esv8577 11 68487979 68488060 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31018 S 1 1 0 "" SJK esv7576 11 68488033 68488128 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30017 S 1 1 0 "" SJK esv1376525 11 68488060 68488060 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757282 S 2 1 0 "" HuRef esv5478 11 68488127 68488186 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27919 S 1 1 0 "" SJK nsv520960 11 68514489 68515361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694410 S 2026 0 1 "" nsv527120 11 68514489 68537646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703503 S 2026 0 1 MRGPRF nsv832196 11 68519158 68689864 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449324,nssv1449323 M 95 0 2 MRGPRF,TPCN2 nsv468619 11 68526609 68577452 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543721 S 1557 0 1 MRGPRF,TPCN2 NINDS_54 nsv825970 11 68540043 68613016 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439146 S 31 1 0 TPCN2 NA18973 esv5285 11 68554138 68554411 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27726 S 1 0 1 Single Asian sample YH "" YH nsv469967 11 68561027 68656390 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546190,nssv546189 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TPCN2 HGDP00288,HGDP00543 nsv468620 11 68561382 68612171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543722 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TPCN2 HGDP00336 dgv1212n71 11 68561382 68638225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897869,nsv897868 M 6533 0 2 TPCN2 MS10311,MS16153 dgv226n67 11 68568485 68573829 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825971,nsv825972 M 31 2 0 TPCN2 NA18949,NA18997 esv1002444 11 68579571 68579571 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583300 S 3 1 0 TPCN2 HuRef esv1755381 11 68579745 68579745 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770050 S 2 1 0 TPCN2 HuRef esv22030 11 68592272 68593867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12164 S 451 0 1 TPCN2 NA18909 esv1613113 11 68592811 68592811 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009435 S 2 1 0 TPCN2 HuRef esv998682 11 68593252 68593563 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572096 S 3 0 1 TPCN2 HuRef esv26530 11 68600310 68601480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20546 S 451 0 7 TPCN2 NA12489,NA18502,NA18505,NA18916,NA19147,NA19225,NA19240 esv1356674 11 68601098 68601098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852269 S 2 1 0 TPCN2 HuRef esv1661230 11 68601116 68601116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352131 S 2 1 0 TPCN2 HuRef esv1163200 11 68601142 68601142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033970 S 2 1 0 TPCN2 HuRef esv1429725 11 68601278 68601386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726552 S 2 0 1 TPCN2 HuRef esv1281432 11 68610912 68610912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116349 S 2 1 0 TPCN2 HuRef nsv521595 11 68613492 68633163 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698212 S 2026 1 0 TPCN2 esv999836 11 68616423 68616423 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566277 S 3 1 0 "" HuRef esv1668748 11 68616445 68616445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356819 S 2 1 0 "" HuRef nsv509425 11 68616765 68740165 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620815 S 4 1 0 "" NA15510 nsv818848 11 68617234 68627577 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417747 S 112 0 1 "" NA19003 esv2520016 11 68634586 68635289 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182150 S 1 1 0 "" NA18507 esv2545443 11 68648399 68649090 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327431 S 1 1 0 "" NA18507 nsv897870 11 68680173 68751073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546795 S 6533 0 1 "" MS17208 nsv375 11 68706481 68723072 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8929 S 9 1 0 "" NA12156 esv996209 11 68706634 68706959 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565033 S 3 1 0 "" HuRef esv1373664 11 68706988 68706988 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861281 S 2 1 0 "" HuRef esv2585964 11 68739510 68740198 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247149 S 1 1 0 "" NA18507 esv1084633 11 68739722 68739722 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185856 S 2 1 0 "" HuRef nsv376 11 68754003 68789107 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1016 S 9 1 0 "" NA19240 esv6172 11 68772049 68772920 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28613 S 1 0 0 "" SJK esv2565994 11 68815356 68816219 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337321 S 1 1 0 "" NA18507 nsv513324 11 68815974 68816116 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625714 S 1 1 0 "" 1 esv996800 11 68818101 68818101 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571361 S 3 1 0 "" HuRef esv1639207 11 68818102 68818102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730619 S 2 1 0 "" HuRef dgv1213n71 11 68870174 68954993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897871,nsv897872 M 6533 0 2 "" IS33504,MS10123 nsv508639 11 68883612 69060810 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622527 S 4 0 1 "" NA18994 dgv1214n71 11 68931841 69079930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897873,nsv897874 M 6533 0 2 "" IS37646,MS10311 nsv528007 11 68948792 68948922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704533 S 2026 0 1 "" nsv897875 11 68948922 69027272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546796 S 6533 0 1 "" MS17208 nsv469968 11 68974418 69017756 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546192,nssv546191 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00298,HGDP00789 nsv818849 11 68984727 68987156 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417523 S 112 0 1 "" NA18968 nsv897876 11 68987156 69027699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543614 S 6533 0 1 "" MS16153 nsv468622 11 69014341 69053658 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543723 S 1557 0 1 "" 1780862042_A nsv897877 11 69017756 69048798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529854 S 6533 0 1 "" MS10123 esv1389376 11 69022134 69022134 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720344 S 2 1 0 "" HuRef nsv38869 11 69091329 69092922 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57447 M 24 "" nsv512234 11 69109562 69111291 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624805 S 1 0 1 "" 1 esv8374 11 69110021 69110615 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30815 S 1 0 1 "" SJK dgv16n68 11 69117677 69297659 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832198,nsv832197 M 95 0 7 CCND1,FGF19,FGF4,ORAOV1 nsv468623 11 69123458 69144411 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543724 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01001 nsv523897 11 69127319 69139375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699740 S 2026 0 1 "" nsv825973 11 69143228 69374793 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439147 S 31 1 0 CCND1,FGF19,FGF3,FGF4,ORAOV1 NA18973 nsv825974 11 69153742 69233596 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428538 S 31 1 0 CCND1,FGF19,ORAOV1 AK10 nsv897878 11 69156094 69182503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510863 S 6533 0 1 CCND1 SP54988 nsv897879 11 69164632 69178933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506029 S 6533 0 1 CCND1 SP54043 nsv897880 11 69174862 69177585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511469 S 6533 0 1 CCND1 SP55021 nsv897881 11 69175296 69178933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507910 S 6533 0 1 CCND1 SP54684 nsv897882 11 69175918 69182503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510032 S 6533 0 1 CCND1 SP54956 esv7744 11 69229981 69233070 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30185 S 1 0 1 "" SJK nsv832199 11 69241915 69396984 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449333,nssv1449334 M 95 1 1 FGF3,FGF4 nsv832200 11 69241915 69396984 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449335 S 95 0 1 FGF3,FGF4 esv271859 11 69257535 69257620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514566,essv2514333 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12874 esv259954 11 69267349 69267766 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397799,essv2394986,essv2400108,essv2398196,essv2401022,essv2395169,essv2396404,essv2398121,essv2399686 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18511,NA18861,NA18909,NA19099,NA19108,NA19138,NA19172,NA19210 nsv508640 11 69297139 69361395 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622529 S 4 0 1 FGF3,FGF4 NA18994 nsv468624 11 69316688 69388070 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543725 S 1557 0 1 FGF3 1780862444_A nsv897883 11 69316688 69512631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530734 S 6533 0 1 FGF3 MS10311 esv7821 11 69367719 69368136 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30262 S 1 0 1 "" SJK nsv832201 11 69381495 69522942 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449336 S 95 0 1 "" dgv1215n71 11 69388070 69512631 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897886,nsv897885,nsv897884 M 6533 0 5 "" IS32322,IS38293,MS11237,MS13770,MS17208 esv2174437 11 69395574 69395902 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834980 S 1 0 1 "" NA18507 nsv38996 11 69423524 69423589 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57574 M 24 "" esv994600 11 69524267 69530082 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586736 S 3 1 0 "" HuRef nsv825976 11 69527248 69527692 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433070,nssv1422834 M 31 0 2 "" NA18552,NA18972 esv23827 11 69619402 69619967 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12228 S 451 1 0 ANO1 NA19240 esv1360750 11 69645371 69645436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925262 S 2 0 1 ANO1 HuRef esv1620418 11 69645639 69645706 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719376 S 2 0 1 ANO1 HuRef esv1322895 11 69646030 69646030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297194 S 2 1 0 ANO1 HuRef nsv897887 11 69648285 69718052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543615 S 6533 0 1 ANO1 MS16153 esv1765426 11 69650741 69650741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722821 S 2 1 0 ANO1 HuRef nsv825977 11 69659795 69661961 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435075 S 31 1 0 ANO1 NA18592 nsv820744 11 69659795 69662302 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420953 S 1 0 1 ANO1 NA10851 dgv227n67 11 69660088 69662302 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825983,nsv825979,nsv825982,nsv825978 M 31 0 27 ANO1 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 esv9664 11 69660202 69662135 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32105 S 1 0 1 ANO1 SJK nsv39653 11 69660204 69662138 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58231 M 24 ANO1 dgv228n67 11 69660214 69661212 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825981,nsv825980 M 31 0 3 ANO1 NA18537,NA18582,NA18973 esv23581 11 69660239 69661763 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14535,esv21069 M 451 27 1 ANO1 NA11894,NA11993,NA12006,NA12044,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv39588 11 69664132 69669536 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58166 M 24 ANO1 nsv897888 11 69678779 69718052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549833 S 6533 0 1 ANO1 MS18276 nsv469969 11 69682343 69711231 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546193 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANO1 HGDP00661 esv3580 11 69717950 69718504 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26021 S 1 0 1 Single Asian sample YH "" YH esv268477 11 69727696 69727859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501344,essv2510803 M 157 2 0 Samples from several populations that are part of the HapMap project. FADD NA19093,NA19116 nsv378 11 69731207 69784991 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9272 S 9 0 1 "" NA18517 esv1009476 11 69749140 69762123 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565636 S 3 0 1 "" HuRef dgv157n27 11 69749575 69771806 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468626,nsv468629,nsv468630 M 1557 0 3 "" HGDP00017,HGDP00262,HGDP00520 esv23757 11 69752455 69761328 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18464 S 451 0 2 "" NA11995,NA18517 dgv22e180 11 69752560 69761385 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988700,esv1004237 M 3 0 1 "" HuRef esv2421514 11 69753014 69759313 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019285,essv5058242,essv5101440,essv5056190,essv5050666,essv5035592,essv5058612,essv5015122,essv5096485,essv5055752,essv5106473,essv5009604,essv5036778,essv5087423,essv5136887,essv5113683,essv5153427,essv5044542,essv5014308,essv5064769,essv5031937,essv5031342 M 1184 0 22 "" NA10861,NA11917,NA11995,NA12340,NA12347,NA12802,NA12815,NA12877,NA12890,NA18517,NA19722,NA19724,NA19759,NA20287,NA20288,NA20512,NA20527,NA20769,NA20772,NA20803,NA20808,NA20811 nsv468627 11 69754186 69759313 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543727 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01378 nsv517181 11 69755529 69759313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686248,nssv670906,nssv652008,nssv677843,nssv664024,nssv655604,nssv678235,nssv699175,nssv652523,nssv683614,nssv653946,nssv684191,nssv686065,nssv661438 M 2026 0 14 "" esv1008549 11 69770303 69776325 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565652 S 3 0 1 "" HuRef nsv379 11 69869833 69916016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1017,nssv8930,nssv3963,nssv1945,nssv5366 M 9 5 0 PPFIA1 NA12156,NA12878,NA18555,NA19129,NA19240 nsv509426 11 69886518 69903502 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623453,nssv620820,nssv618087,nssv619382 M 4 4 0 PPFIA1 CHM,NA10860,NA15510,NA18994 esv989281 11 69887948 69898823 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564928 S 3 1 0 PPFIA1 HuRef esv2440471 11 69895118 69895282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351644 S 1 0 1 PPFIA1 NA18507 esv9603 11 69895129 69895218 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32044 S 1 1 0 PPFIA1 SJK esv1376217 11 69895152 69895152 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126414 S 2 1 0 PPFIA1 HuRef nsv825984 11 69906703 69907205 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422048 S 31 1 0 PPFIA1 NA18997 nsv825985 11 69992913 69993692 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422049 S 31 1 0 SHANK2 NA18997 nsv469970 11 70053253 70073846 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546194 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SHANK2 HGDP01029 nsv897889 11 70056912 70111335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549834 S 6533 0 1 SHANK2 MS18276 dgv1216n71 11 70091531 70174289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897893,nsv897890 M 6533 0 2 SHANK2 MS10311,MS16153 nsv897891 11 70091531 70371445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583487 S 6533 1 0 SHANK2 IS36517 nsv897892 11 70097930 70148281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546798 S 6533 0 1 SHANK2 MS17208 esv259836 11 70116500 70118733 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395480,essv2397140,essv2395149 M 144 0 0 Samples from several populations that are part of the HapMap project. SHANK2 NA18948,NA18951,NA19108 nsv524138 11 70129700 70141158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700016 S 2026 0 1 SHANK2 nsv818850 11 70154458 70174289 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417748 S 112 0 1 SHANK2 NA19003 esv1780993 11 70263794 70263849 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598112 S 2 0 1 SHANK2 HuRef esv997759 11 70263813 70263867 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573954 S 3 0 1 SHANK2 HuRef nsv509427 11 70275795 70358372 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619383 S 4 1 0 SHANK2 NA10860 nsv380 11 70279912 70313158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8931 S 9 1 0 SHANK2 NA12156 nsv39143 11 70287862 70288000 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57721 M 24 SHANK2 nsv897894 11 70314702 70361142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530736 S 6533 0 1 SHANK2 MS10311 nsv897895 11 70314702 70432568 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546799 S 6533 0 1 MIR3664,SHANK2 MS17208 esv2489106 11 70327005 70327394 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220664 S 1 1 0 SHANK2 NA18507 esv1771073 11 70327137 70327137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037393 S 2 1 0 SHANK2 HuRef nsv381 11 70374595 70408055 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8932 S 9 1 0 MIR3664,SHANK2 NA12156 esv993927 11 70385160 70398488 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565487 S 3 0 1 MIR3664,SHANK2 HuRef nsv825987 11 70390422 70390964 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430039 S 31 0 1 SHANK2 AK14 esv6774 11 70390473 70390959 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29215 S 1 0 1 SHANK2 SJK nsv510582 11 70451029 70566349 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624299,nssv618669,nssv622366,nssv621580 M 4 0 0 SHANK2 CHM,NA10860,NA15510,NA18994 esv2072312 11 70475140 70475577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783551 S 1 0 1 SHANK2 NA18507 esv1560771 11 70475345 70475419 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631115 S 2 0 1 SHANK2 HuRef nsv38686 11 70475400 70475473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57264 M 24 SHANK2 esv8855 11 70479338 70479387 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31296 S 1 1 0 SHANK2 SJK esv2251549 11 70484407 70484904 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867995 S 1 0 1 SHANK2 NA18507 esv2461530 11 70486594 70486726 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291400 S 1 0 1 SHANK2 NA18507 nsv897896 11 70496686 70920892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583488 S 6533 1 0 DHCR7,KRTAP5-7,LOC339902,NADSYN1,SHANK2 IS36517 esv24074 11 70507951 70527201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14265 S 451 0 1 SHANK2 NA18907 esv2567606 11 70512677 70513473 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347971 S 1 1 0 SHANK2 NA18507 esv32673 11 70552731 70610298 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100897 S 51 1 0 SHANK2 21656 nsv897897 11 70684830 70895219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546800 S 6533 0 1 DHCR7,LOC339902,NADSYN1 MS17208 nsv382 11 70728179 70752754 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1018 S 9 1 0 "" NA19240 nsv520291 11 70741167 70744872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662447,nssv680504 M 2026 0 2 "" dgv74n21 11 70746443 70893528 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519224,nsv526973 M 2026 0 2 DHCR7,LOC339902,NADSYN1 esv267397 11 70748526 70748675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505093,essv2495372,essv2495837,essv2505038,essv2511826,essv2504037,essv2496460,essv2493804,essv2508784,essv2507839,essv2501558,essv2498397,essv2509551,essv2498739,essv2496927,essv2499832,essv2503618 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11995,NA12287,NA12489,NA12828,NA18499,NA18505,NA18510,NA18517,NA18532,NA18564,NA18608,NA18858,NA19129,NA19138,NA19190,NA19225 nsv832202 11 70752897 70809016 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449341,nssv1449339,nssv1449337,nssv1449338 M 95 0 4 LOC339902 esv2509025 11 70768771 70769613 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286302 S 1 1 0 "" NA18507 nsv513325 11 70769433 70769657 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625715 S 1 1 0 "" 1 nsv897898 11 70780791 70889302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530737 S 6533 0 1 DHCR7,LOC339902,NADSYN1 MS10311 nsv518163 11 70819998 70832801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695584 S 2026 0 1 DHCR7 esv23825 11 70890422 70893342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20567 S 451 0 1 "" NA18511 dgv1217n71 11 70911755 70955629 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897899,nsv897900 M 6533 2 0 KRTAP5-10,KRTAP5-7,KRTAP5-8,KRTAP5-9 MS18377,SP55026 nsv507597 11 70928436 70934436 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622956 S 4 1 0 "" NA18994 esv27032 11 70951873 70952868 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11587 S 451 0 1 "" NA12776 nsv825988 11 70954910 70971937 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435097 S 31 0 1 KRTAP5-10,KRTAP5-11 NA18592 esv6508 11 70957905 70968058 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28949 S 1 0 0 "" SJK esv2604561 11 70958488 70968054 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334680 S 1 0 0 "" NA18507 esv1081498 11 70973485 70973485 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972723 S 2 1 0 "" HuRef dgv1218n71 11 70993741 71146504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897902,nsv897901 M 6533 3 0 "" IS31703,IS35743,IS36517 nsv897903 11 70993741 71201414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588361 S 6533 1 0 FAM86C1 IS38183 dgv1219n71 11 70993741 71293375 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897905,nsv897904 M 6533 2 0 DEFB108B,FAM86C1,LOC100129216,LOC100133315 IS31082,IS39243 nsv832205 11 71014348 71201465 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449342 S 95 1 0 FAM86C1 dgv396e1 11 71041287 71335224 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11169,esv137,essv19507,essv11918 M 271 0 0 DEFB108B,FAM86C1,LOC100129216,LOC100133315,RNF121 NA12864,NA18502,NA19211 nsv428262 11 71041287 71481703 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452135,nssv452134 M 62 1 1 DEFB108B,FAM86C1,IL18BP,LOC100129216,LOC100133315,LRTOMT,MIR3165,NUMA1,RNF121 HGDP01089,NA19113 dgv1220n71 11 71064553 71226822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897907,nsv897906 M 6533 0 2 DEFB108B,FAM86C1 MS12606,MS15515 esv33330 11 71081959 71105199 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97508,essv100690,essv100967,essv95108,essv94077,essv101346,essv95454,essv101749,essv94518,essv99114,essv92881,essv96215,essv93512,essv93327,essv97696,essv100605 M 51 1 15 "" 21616,21656,21693,21721,21802,21805,21847,21909,21932,21938,21939,22007,22128,22170,22278,22298 esv1153854 11 71161890 71161890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009145 S 2 1 0 "" HuRef nsv482161 11 71176205 71189928 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558522 S 1 1 0 FAM86C1 KB1 esv25167 11 71176508 71281616 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11824,esv11723,esv18828 M 451 7 0 DEFB108B,FAM86C1,LOC100129216,LOC100133315 NA12239,NA18502,NA18907,NA19108,NA19147,NA19225,NA19257 nsv8837 11 71194988 71237563 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20026,nssv23247,nssv22779 M 31 1 2 Samples from several populations that are part of the HapMap project. DEFB108B NA18502,NA18552,NA18972 nsv509428 11 71263771 71325991 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623459 S 4 1 0 LOC100129216,LOC100133315,RNF121 NA18994 esv273257 11 71270240 71270325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581465 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100129216,LOC100133315 NA12878 nsv383 11 71287254 71304975 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1019 S 9 1 0 LOC100133315 NA19240 esv32752 11 71373970 71374136 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98715 S 51 0 1 RNF121 21606 esv2494956 11 71446888 71448298 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171253 S 1 0 1 NUMA1 NA18507 nsv384 11 71462930 71494868 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10828 S 9 1 0 LAMTOR1,LRTOMT,NUMA1 NA18956 nsv825989 11 71476466 71477143 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422050 S 31 0 1 LRTOMT NA18997 nsv39571 11 71522241 71522241 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58149 M 24 "" nsv435918 11 71529075 71568631 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466664 S 2 0 1 "" NA15510 esv5948 11 71529288 71568178 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28389 S 1 0 1 "" SJK esv2513904 11 71530582 71570441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296003 S 1 0 1 "" NA18507 esv1935888 11 71539087 71539756 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955075 S 1 0 1 "" NA18507 esv5256 11 71539208 71539749 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27697 S 1 0 1 Single Asian sample YH "" YH esv2469473 11 71539256 71539570 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366804 S 1 0 1 "" NA18507 esv1412330 11 71539257 71539572 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074921 S 2 0 1 "" HuRef esv6146 11 71539258 71539560 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28587 S 1 0 1 "" SJK nsv526086 11 71544815 71550425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702330 S 2026 0 1 "" esv2128812 11 71552883 71554231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548151 S 1 0 1 "" NA18507 esv2477407 11 71589190 71590940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329951 S 1 0 1 "" NA18507 nsv513326 11 71590243 71590816 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625716 S 1 1 0 "" 1 dgv1221n71 11 71605116 71638202 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897909,nsv897908 M 6533 0 2 FOLR2,INPPL1,PHOX2A SP54956,SP54988 esv26290 11 71629915 71631238 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14046 S 451 0 1 PHOX2A NA07037 esv2577277 11 71656833 71658633 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242537 S 1 0 1 "" NA18507 nsv385 11 71658963 71695604 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1020,nssv1946 M 9 2 0 CLPB NA18555,NA19240 nsv832206 11 71684221 71853665 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449343 S 95 1 0 CLPB esv2339545 11 71686152 71686571 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587944 S 1 0 1 CLPB NA18507 nsv825990 11 71761075 71765286 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425216 S 31 0 1 CLPB AK2 esv1000322 11 71786975 71794454 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563907 S 3 0 1 CLPB HuRef esv8221 11 71792414 71792501 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30662 S 1 1 0 CLPB SJK esv267422 11 71809593 71809883 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510972,essv2496647,essv2511229,essv2505139,essv2499418,essv2495377,essv2495905,essv2508527,essv2508357,essv2505069,essv2508865,essv2500263,essv2494321,essv2504065,essv2503007,essv2509820,essv2496172,essv2493812,essv2505837,essv2513386,essv2495533,essv2504942,essv2503127,essv2511141,essv2497909,essv2505403,essv2500586,essv2502676,essv2500774,essv2512787,essv2505575,essv2506500,essv2499108,essv2510908,essv2499699,essv2501729,essv2498089 M 157 37 0 Samples from several populations that are part of the HapMap project. CLPB NA11831,NA11894,NA11931,NA11995,NA12044,NA12287,NA12489,NA12717,NA12749,NA12828,NA12878,NA12891,NA18502,NA18505,NA18507,NA18508,NA18511,NA18517,NA18861,NA18907,NA18916,NA18942,NA18943,NA18944,NA18945,NA18952,NA18956,NA18965,NA18973,NA18980,NA19005,NA19108,NA19114,NA19116,NA19225,NA19239,NA19240 esv274124 11 71809604 71809877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580950 S 7 1 0 Samples from several populations that are part of the HapMap project. CLPB NA19238 nsv522492 11 71828476 71832177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705860 S 2026 0 1 "" nsv897910 11 71832177 71959532 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560090 S 6533 1 0 "" MS24285 esv1021923 11 71890829 71890927 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4168042 S 2 0 1 "" HuRef esv1086743 11 71890948 71891026 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772941 S 2 0 1 "" HuRef esv22223 11 71921160 71925599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20726 S 451 0 1 "" NA18916 nsv832207 11 71950398 72146770 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449344 S 95 0 1 ARAP1,MIR139,PDE2A,STARD10 nsv468633 11 71959532 72014212 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543730 S 1557 0 1 MIR139,PDE2A NINDS_98 nsv523601 11 71959532 72108583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699394 S 2026 0 1 ARAP1,MIR139,PDE2A nsv509429 11 71962613 71993207 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620824 S 4 1 0 PDE2A NA15510 esv1004730 11 71989659 71990693 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564041 S 3 1 0 PDE2A HuRef esv1163550 11 71989867 71989867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962519 S 2 1 0 PDE2A HuRef nsv825991 11 71998290 72062869 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439149 S 31 1 0 MIR139,PDE2A NA18973 esv268579 11 71998534 71998871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517027,essv2518184,essv2517641,essv2516193,essv2513672 M 157 5 0 Samples from several populations that are part of the HapMap project. PDE2A NA07347,NA11931,NA12872,NA12878,NA12891 esv274169 11 71998542 71998869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582260,essv2582710 M 7 2 0 Samples from several populations that are part of the HapMap project. PDE2A NA12878,NA12891 esv1200915 11 71998570 71998570 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274533 S 2 1 0 PDE2A HuRef esv2325810 11 72025523 72026047 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799458 S 1 0 1 PDE2A NA18507 esv25409 11 72028448 72029898 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18878 S 451 0 1 PDE2A NA12006 esv269430 11 72058749 72059156 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496727,essv2510746,essv2509909,essv2506551 M 157 4 0 Samples from several populations that are part of the HapMap project. PDE2A NA18498,NA18501,NA18508,NA19108 esv259916 11 72059217 72059648 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398580,essv2396631,essv2398422,essv2400357,essv2399578,essv2399999,essv2394885,essv2397764,essv2399658 M 144 0 0 Samples from several populations that are part of the HapMap project. PDE2A NA10847,NA18526,NA18552,NA18555,NA18570,NA18940,NA18942,NA18956,NA18964 nsv468636 11 72083516 72109327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543731 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARAP1 HGDP01095 nsv825992 11 72153822 72201943 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439150 S 31 1 0 MIR4692,STARD10 NA18973 esv2422418 11 72324166 72485513 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161259 S 181 1 0 FCHSD2 ND01840 nsv386 11 72526745 72571455 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8933 S 9 0 1 FCHSD2 NA12156 nsv832208 11 72553832 72768651 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449345 S 95 1 0 ARHGEF17,P2RY2,P2RY6,RELT nsv518659 11 72612267 72623668 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696109 S 2026 1 0 P2RY2 nsv387 11 72642382 72674160 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10829 S 9 1 0 P2RY6 NA18956 nsv520665 11 72676869 72739504 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697546 S 2026 0 1 ARHGEF17,P2RY6 nsv825993 11 72706857 72769577 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439152 S 31 1 0 ARHGEF17,RELT NA18973 nsv897911 11 72721999 72785924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510034 S 6533 0 1 ARHGEF17,RELT SP54956 nsv508641 11 72826929 72913176 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618758 S 4 0 1 FAM168A NA10860 nsv520130 11 72861246 72901424 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690125,nssv674898,nssv661065 M 2026 3 0 FAM168A nsv389 11 72881847 72917171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3964 S 9 1 0 FAM168A NA12878 nsv38888 11 72900244 72900244 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57466 M 24 FAM168A esv271125 11 72954250 72954615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496726,essv2511913,essv2510649,essv2509758,essv2505842,essv2493954,essv2509134,essv2504861,essv2499050,essv2497698,essv2495795 M 157 11 0 Samples from several populations that are part of the HapMap project. FAM168A NA07000,NA18498,NA18499,NA18501,NA18508,NA18861,NA18871,NA18909,NA19099,NA19114,NA19147 esv22737 11 72984427 72986945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20896 S 451 0 3 FAM168A NA07037,NA12006,NA12776 nsv525173 11 73034520 73042321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701249 S 2026 0 1 PLEKHB1 nsv521125 11 73036884 73055790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697803 S 2026 0 1 PLEKHB1 nsv528592 11 73038536 73042321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705218 S 2026 0 1 PLEKHB1 esv25152 11 73064421 73066426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12423 S 451 0 2 RAB6A NA12287,NA12776 nsv390 11 73065836 73110547 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8934 S 9 0 1 RAB6A NA12156 esv22024 11 73072641 73076074 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19003 S 451 0 1 RAB6A NA18861 nsv897912 11 73113656 73154693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514703 S 6533 0 1 RAB6A SP56047 nsv510260 11 73145202 73151202 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618346 S 4 0 1 RAB6A CHM nsv509430 11 73183268 73249633 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619389 S 4 1 0 MRPL48 NA10860 nsv391 11 73186507 73221691 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1021 S 9 1 0 MRPL48 NA19240 esv24132 11 73219868 73222081 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11395 S 451 0 1 MRPL48 NA18511 esv270609 11 73240404 73240755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510380,essv2502570,essv2512540,essv2493643,essv2507044,essv2502375,essv2495938,essv2506903,essv2510881,essv2499635,essv2495819,essv2513069 M 157 12 0 Samples from several populations that are part of the HapMap project. MRPL48 NA07000,NA10847,NA12414,NA12750,NA18489,NA18517,NA18870,NA18948,NA18961,NA19102,NA19116,NA19225 esv1088910 11 73240441 73240441 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827546 S 2 1 0 MRPL48 HuRef nsv510946 11 73300187 73335362 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624302 S 4 0 0 PAAF1 NA18994 esv1001380 11 73357700 73362099 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586370 S 3 1 0 DNAJB13 HuRef nsv520299 11 73361942 73372402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662587,nssv662745 M 2026 0 2 UCP2 esv259923 11 73387643 73387981 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398622,essv2400015,essv2397538,essv2400279,essv2396799,essv2396282,essv2396696,essv2397972,essv2397345,essv2401067,essv2400647,essv2396614,essv2397408,essv2400598,essv2400002,essv2394535,essv2399632,essv2399284,essv2395993,essv2400508 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA11992,NA12154,NA12249,NA12716,NA12750,NA12751,NA12878,NA12891,NA18510,NA18526,NA18566,NA18576,NA18940,NA18959,NA18964,NA19102,NA19238,NA19240 esv259616 11 73387661 73387939 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394093,essv2393882,essv2393753,essv2394387 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 nsv525322 11 73405807 73406170 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701432 S 2026 1 0 "" dgv397e1 11 73520257 74235245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv714,essv7444,essv6962 M 271 0 0 C2CD3,CHRDL2,KCNE3,LIPT2,MIR4696,P4HA3,PGM2L1,POLD3,PPME1,RNF169,XRRA1 NA18582 nsv392 11 73524089 73557067 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3966 S 9 1 0 C2CD3 NA12878 esv34979 11 73556336 74211100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979615,essv6979616,essv6986907,essv6986908,essv6990387 M 771 1 0 C2CD3,CHRDL2,KCNE3,LIPT2,MIR4696,P4HA3,PGM2L1,POLD3,PPME1,RNF169 NA18582 nsv522994 11 73584572 73594838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698664 S 2026 0 1 PPME1 nsv825994 11 73614315 74212103 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424450 S 31 1 0 CHRDL2,KCNE3,LIPT2,MIR4696,P4HA3,PGM2L1,POLD3,PPME1,RNF169 NA18582 esv269607 11 73618124 73618515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510753,essv2507143,essv2509162,essv2504629 M 157 4 0 Samples from several populations that are part of the HapMap project. PPME1 NA18501,NA18870,NA18909,NA19099 esv267677 11 73659179 73659419 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526111,essv2554012,essv2553699,essv2565373,essv2536081,essv2563499 M 157 6 0 Samples from several populations that are part of the HapMap project. P4HA3 NA06986,NA10847,NA11918,NA12287,NA12763,NA12812 esv4386 11 73702527 73705237 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26827 S 1 0 1 Single Asian sample YH "" YH esv6478 11 73702538 73705047 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28919 S 1 0 1 "" SJK esv23128 11 73702578 73705038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11202 S 451 0 11 "" NA07037,NA12044,NA12489,NA12749,NA18508,NA18517,NA19108,NA19114,NA19129,NA19147,NA19225 nsv527942 11 73721356 73722624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704450 S 2026 0 1 PGM2L1 nsv524552 11 73757755 73770051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700503 S 2026 0 1 PGM2L1 nsv8838 11 73809699 73818947 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18412,nssv18311,nssv20208,nssv20043,nssv20649,nssv19866,nssv22808,nssv20917,nssv19856,nssv22926,nssv25361,nssv23275,nssv20235,nssv23053,nssv22381,nssv18130,nssv19314,nssv23779,nssv19112,nssv20335,nssv20918,nssv21238,nssv20164,nssv19970,nssv22333 M 31 0 25 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 nsv820587 11 73811627 73819066 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420954 S 1 1 0 "" NA10851 esv27774 11 73812402 73818655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9748,esv12771 M 451 0 37 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv393 11 73813510 73859065 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6469 S 9 0 1 KCNE3 NA12156 esv2555615 11 73821959 73823314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315578 S 1 0 1 "" NA18507 esv2374595 11 73822524 73823253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762388 S 1 0 1 "" NA18507 esv9314 11 73822718 73823060 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31755 S 1 0 1 "" SJK esv1252358 11 73822719 73823066 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234835 S 2 0 1 "" HuRef nsv832209 11 73833531 74006767 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449346 S 95 1 0 KCNE3,LIPT2,POLD3 nsv897913 11 73849645 73894353 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566937 S 6533 1 0 KCNE3,LIPT2 IS31011 dgv1222n71 11 73943674 74005262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897914,nsv897915 M 6533 0 2 POLD3 IS35952,MS20708 esv1551312 11 73945108 73945108 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654028 S 2 1 0 "" HuRef nsv509431 11 74023964 74124901 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623470 S 4 1 0 CHRDL2,MIR4696,POLD3 NA18994 esv1346991 11 74045660 74045660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864989 S 2 1 0 "" HuRef esv9288 11 74045663 74045756 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31729 S 1 1 0 "" SJK nsv525311 11 74064089 74064448 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701418 S 2026 1 0 "" esv270211 11 74082380 74082739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506278,essv2509580,essv2497468 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19129,NA19147 dgv1223n71 11 74142716 74273155 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897916,nsv897917 M 6533 3 0 RNF169,XRRA1 SP50622,SP55417,SP56833 nsv38718 11 74182988 74184681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57296 M 24 RNF169 esv2484083 11 74209430 74210962 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260893 S 1 0 1 RNF169 NA18507 esv2305041 11 74209859 74210568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877898 S 1 0 1 RNF169 NA18507 nsv8839 11 74209985 74211721 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22411 S 31 1 0 Samples from several populations that are part of the HapMap project. RNF169 NA19240 dgv5e197 11 74210058 74210387 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2465516,esv2563156 M 1 0 1 RNF169 NA18507 nsv8840 11 74231509 74236604 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22363 S 31 0 1 Samples from several populations that are part of the HapMap project. XRRA1 NA18504 nsv832210 11 74240430 74409781 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449347,nssv1449348 M 95 1 1 NEU3,SPCS2,XRRA1 nsv897918 11 74435289 74476576 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504166 S 6533 0 1 "" SP52270 nsv526053 11 74535084 74539193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702290 S 2026 0 1 "" nsv897919 11 74540039 74553149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597315 S 6533 0 1 SLCO2B1 IS40799 nsv832211 11 74623487 74783773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449349,nssv1449350 M 95 0 2 ARRB1,LOC441617,MIR326 nsv522447 11 74660587 74746415 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705806 S 2026 0 1 ARRB1,MIR326 nsv468637 11 74747519 74753514 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543732 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00491 nsv516556 11 74749431 74758568 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669132,nssv674926,nssv702360,nssv698102 M 2026 1 3 "" nsv897920 11 74765168 74858897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530738 S 6533 0 1 GDPD5,KLHL35,RPS3,SNORD15A,SNORD15B MS10311 esv993873 11 74768613 74771600 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565737 S 3 0 1 "" HuRef dgv1224n71 11 74793541 74825309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897922,nsv897921 M 6533 0 2 GDPD5,KLHL35,RPS3 SP54956,SP54988 nsv825995 11 74793728 74794192 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422051 S 31 1 0 RPS3 NA18997 nsv897923 11 74806655 74980503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546801 S 6533 0 1 GDPD5,KLHL35,MAP6,SERPINH1 MS17208 esv993847 11 74854542 74864829 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563675 S 3 0 1 GDPD5 HuRef nsv825996 11 74873274 74880980 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423651 S 31 0 1 GDPD5 NA18999 dgv398e1 11 74875928 74878739 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3494,esv1132 M 271 0 0 GDPD5 NA18999 esv1986553 11 74930531 74930976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668978 S 1 0 1 "" NA18507 nsv525193 11 74953826 74964989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701272 S 2026 0 1 SERPINH1 nsv897924 11 75102194 75356295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533142 S 6533 1 0 DGAT2,MOGAT2,UVRAG MS11022 esv1010460 11 75112485 75115812 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564932 S 3 1 0 MOGAT2 HuRef nsv897925 11 75133782 75233971 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541017 S 6533 1 0 DGAT2,UVRAG MS15165 esv2636970 11 75151784 75152726 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220048 S 1 1 0 "" NA18507 nsv832212 11 75202641 75403271 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449352 S 95 1 0 UVRAG esv27673 11 75234963 75236308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15047 S 451 0 1 UVRAG NA18502 nsv515973 11 75246915 75509963 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694527,nssv657132,nssv680167,nssv703792,nssv665555 M 2026 5 0 UVRAG nsv394 11 75498195 75543425 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8935 S 9 0 1 UVRAG NA12156 nsv515484 11 75531883 75540219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673866,nssv651663 M 2026 0 2 UVRAG esv259881 11 75538875 75539217 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397559,essv2398084,essv2397851,essv2399211,essv2399868,essv2399469,essv2400126,essv2397123,essv2397758,essv2401002,essv2396346,essv2397257 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA12144,NA18505,NA18508,NA18573,NA18858,NA18861,NA18951,NA18956,NA19099,NA19138,NA19225 nsv897926 11 75540219 75681850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530739 S 6533 0 1 WNT11 MS10311 nsv897927 11 75544647 75585731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549835 S 6533 0 1 WNT11 MS18276 nsv395 11 75546346 75573013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3967 S 9 1 0 "" NA12878 nsv518763 11 75552685 75568343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696213 S 2026 0 1 "" nsv897928 11 75552685 75608939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585950 S 6533 0 1 WNT11 IS37646 esv1530116 11 75553466 75553466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276923 S 2 1 0 "" HuRef esv1427995 11 75553608 75553608 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016520 S 2 1 0 "" HuRef nsv39715 11 75559533 75559533 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58293 M 24 "" nsv522670 11 75562969 75574220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706075 S 2026 0 1 "" nsv897929 11 75562969 75591735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573884 S 6533 0 1 WNT11 IS33504 nsv897930 11 75638120 75705584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538668 S 6533 0 1 "" MS13770 esv26273 11 75644887 75647495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12458 S 451 0 1 "" NA19225 nsv523869 11 75645343 75645489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699708 S 2026 0 1 "" nsv528902 11 75645343 75650726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705586 S 2026 0 1 "" esv2611880 11 75693408 75693643 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222536 S 1 0 1 "" NA18507 esv989053 11 75705494 75716730 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564684 S 3 0 1 "" HuRef nsv524020 11 75711022 75725441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699882 S 2026 0 1 "" nsv521451 11 75731175 75765492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698062 S 2026 0 1 PRKRIR esv2459110 11 75764770 75765952 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292952 S 1 1 0 PRKRIR NA18507 esv269316 11 75765414 75765760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504134,essv2502997,essv2505209,essv2499091 M 157 4 0 Samples from several populations that are part of the HapMap project. PRKRIR NA18505,NA18507,NA18853,NA19114 esv28324 11 75784895 75789506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17044 S 451 0 1 "" NA19108 esv23157 11 75820021 75826175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19773 S 451 0 3 "" NA18508,NA18907,NA19099 nsv514632 11 75820664 75823720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628109 S 1414 0 1 "" esv2421502 11 75820665 75825933 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055190,essv5041502,essv5109520,essv5011428,essv5031557,essv5133616,essv5059644,essv5024917,essv5150455,essv5114719,essv5127858,essv5028716,essv5113099,essv5100893,essv5073930,essv5026123,essv5028043,essv5139550,essv5125496,essv5105906,essv5034329,essv5150701,essv5137472,essv5071286,essv5059276,essv5004591,essv5058241,essv5020363,essv5003767,essv5064528,essv5015764,essv5043824,essv5024348,essv5094670,essv5025951,essv5092134,essv5129532,essv5043702,essv5018658,essv5141601,essv5139942,essv5069894,essv5118467,essv5112339 M 1184 0 44 "" NA18501,NA18508,NA18516,NA18859,NA18913,NA18914,NA19036,NA19044,NA19099,NA19101,NA19102,NA19107,NA19152,NA19154,NA19172,NA19182,NA19185,NA19200,NA19202,NA19238,NA19316,NA19328,NA19383,NA19385,NA19404,NA19428,NA19437,NA19438,NA19468,NA19471,NA19712,NA19818,NA19904,NA19916,NA20129,NA20276,NA20350,NA21333,NA21440,NA21442,NA21454,NA21473,NA21599,NA21740 nsv442622 11 75820665 75825933 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv528623 11 75839037 75845867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705253 S 2026 0 1 C11orf30 nsv509432 11 75961607 76040334 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623472 S 4 1 0 "" NA18994 nsv518717 11 75966585 75988624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696168 S 2026 0 1 "" esv1700575 11 76008014 76008014 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285465 S 2 1 0 "" HuRef nsv527708 11 76037370 76041465 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704187 S 2026 1 0 "" nsv509433 11 76059466 76117062 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623475 S 4 1 0 GUCY2E NA18994 nsv39437 11 76065997 76074071 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58015 M 24 GUCY2E esv1729465 11 76107582 76107750 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289564 S 2 0 1 GUCY2E HuRef esv2311913 11 76122834 76123302 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971735 S 1 0 1 "" NA18507 esv1571596 11 76122972 76123107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604667 S 2 0 1 "" HuRef nsv897931 11 76167321 76218356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510036,nssv1510866 M 6533 0 2 TSKU SP54956,SP54988 nsv507598 11 76199270 76205270 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619048 S 4 1 0 "" NA10860 nsv518920 11 76250664 76315299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696381 S 2026 0 1 ACER3 nsv519309 11 76315001 76315299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696783 S 2026 0 1 ACER3 nsv519700 11 76315299 76387443 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657654,nssv688546,nssv683071,nssv661595,nssv689966,nssv674899,nssv704507,nssv661250 M 2026 7 1 ACER3 esv1509546 11 76323453 76323453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683519 S 2 1 0 ACER3 HuRef nsv396 11 76347764 76380393 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5367 S 9 0 1 ACER3 NA19129 nsv498761 11 76350474 76355471 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585454 S 9 0 1 ACER3 esv23557 11 76350485 76352515 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14454 S 451 0 1 ACER3 NA18907 nsv507599 11 76405859 76411859 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619049,nssv622970 M 4 2 0 ACER3 NA10860,NA18994 dgv1225n71 11 76416871 76525683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897932,nsv897934,nsv897933 M 6533 0 3 B3GNT6,CAPN5,MYO7A,OMP MS10311,MS11249,MS21402 nsv397 11 76418150 76450224 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6470 S 9 1 0 B3GNT6 NA12156 nsv825998 11 76434606 76567418 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439153 S 31 1 0 CAPN5,MYO7A,OMP NA18973 esv1254554 11 76486954 76487052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195028 S 2 0 1 CAPN5 HuRef nsv509434 11 76503823 76620311 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619409 S 4 1 0 CAPN5,GDPD4,MYO7A NA10860 nsv897935 11 76513998 76551268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546802 S 6533 0 1 CAPN5,MYO7A MS17208 nsv825999 11 76514770 76516499 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436912 S 31 1 0 CAPN5 NA18542 nsv528593 11 76518357 76529687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705219 S 2026 0 1 MYO7A nsv897936 11 76559636 76612650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543617 S 6533 0 1 GDPD4,MYO7A MS16153 esv3262 11 76581566 76581937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25703 S 1 0 1 Single Asian sample YH MYO7A YH esv23051 11 76583678 76584283 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17589 S 451 0 1 MYO7A NA11995 esv1675994 11 76586438 76586438 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674746 S 2 1 0 MYO7A HuRef esv273524 11 76668193 76668486 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580353,essv2579969,essv2579107 M 7 3 0 Samples from several populations that are part of the HapMap project. GDPD4 NA12891,NA12892,NA19239 esv270224 11 76668201 76668531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565619,essv2541081,essv2526068,essv2536491,essv2544137,essv2556487,essv2568207,essv2545691,essv2523452,essv2531752,essv2577420,essv2570403,essv2548300,essv2576667,essv2550850,essv2535453,essv2552193,essv2553748,essv2565320,essv2519984,essv2563952,essv2530617,essv2561963,essv2528362,essv2546851,essv2564803,essv2536053,essv2537970,essv2548702,essv2524970,essv2563542 M 157 31 0 Samples from several populations that are part of the HapMap project. GDPD4 NA06986,NA07000,NA07037,NA07357,NA10847,NA11829,NA11831,NA11918,NA11920,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12249,NA12489,NA12763,NA12812,NA12815,NA12828,NA12873,NA12874,NA12891,NA12892,NA18558 nsv39193 11 76918851 76918900 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57771 M 24 "" nsv468641 11 76978989 77097962 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543733 S 1557 1 0 AQP11,CLNS1A,RSF1 1780862469_A esv2562636 11 77080516 77081929 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356767 S 1 0 1 RSF1 NA18507 esv1937409 11 77080763 77081441 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4679971 S 1 0 1 RSF1 NA18507 esv2612929 11 77095011 77096234 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193584 S 1 0 1 RSF1 NA18507 nsv398 11 77176648 77208876 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10830 S 9 1 0 RSF1 NA18956 nsv507600 11 77183098 77189098 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620307 S 4 1 0 RSF1 NA15510 esv2516959 11 77196405 77197940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364399 S 1 0 1 RSF1 NA18507 esv2071392 11 77197049 77197751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512055 S 1 0 1 RSF1 NA18507 nsv520740 11 77231286 77675584 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697584 S 2026 1 0 ALG8,C11orf67,GAB2,INTS4,KCTD14,KCTD21,NDUFC2,NDUFC2-KCTD14,THRSP,USP35 nsv524537 11 77260914 77270869 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700487 S 2026 0 1 C11orf67,INTS4 nsv507601 11 77271640 77277640 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620311 S 4 1 0 INTS4 NA15510 nsv8841 11 77318692 77370226 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19886,nssv22955,nssv21268,nssv22393 M 31 0 4 Samples from several populations that are part of the HapMap project. INTS4 NA18504,NA18517,NA19007,NA19144 nsv400 11 77331715 77364774 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5368 S 9 1 0 INTS4 NA19129 nsv526268 11 77366422 77376172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702541 S 2026 1 0 INTS4 nsv516638 11 77402322 77441437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669789,nssv670710 M 2026 0 2 KCTD14,NDUFC2-KCTD14 nsv516503 11 77533825 77598578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669790,nssv699801,nssv674080,nssv683822,nssv668719 M 2026 0 5 KCTD21,USP35 nsv527066 11 77561503 77640781 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703445 S 2026 1 0 GAB2,KCTD21,USP35 esv33345 11 77566356 77578836 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99908 S 51 1 0 KCTD21,USP35 22086 nsv826000 11 77601749 77602305 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433072 S 31 0 1 USP35 NA18972 nsv510261 11 77656392 77662392 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624005 S 4 0 1 GAB2 NA18994 nsv516040 11 77847433 77848489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653947,nssv679269,nssv676980,nssv672043,nssv684638,nssv671143,nssv668535,nssv688571,nssv669372,nssv686925,nssv675540,nssv679018,nssv656389,nssv671765,nssv680035,nssv665408,nssv677808,nssv652219,nssv679109,nssv654220,nssv684297,nssv662010,nssv666411,nssv674711,nssv678863,nssv653696,nssv664774,nssv667743,nssv673780,nssv671413 M 2026 0 30 NARS2 dgv1226n71 11 77907691 78050184 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897942,nsv897943,nsv897941,nsv897938,nsv897940,nsv897939,nsv897944,nsv897937 M 6533 23 0 NARS2,ODZ4 IS30483,IS32990,IS33066,IS33705,IS33871,IS34108,IS34477,IS34697,IS34733,IS34760,IS35646,IS36316,IS36364,IS38220,IS38439,IS38477,IS38585,IS39361,IS39650,IS40003,IS40433,IS40618,MS23071 nsv468642 11 77928019 78039867 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543734 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NARS2 HGDP00011 dgv1227n71 11 77960280 78050184 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897946,nsv897945 M 6533 3 0 NARS2,ODZ4 IS31558,IS38185,IS39347 nsv468643 11 78018336 78059765 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543735 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ODZ4 HGDP01332 nsv820315 11 78046494 78046699 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419159 S 2 1 0 ODZ4 AK1 esv34127 11 78050685 78490701 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ODZ4 esv33883 11 78066412 78077527 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94948 S 51 0 1 ODZ4 22231 nsv525230 11 78119061 78140463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701319 S 2026 0 1 ODZ4 nsv832213 11 78123405 78302333 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449353 S 95 1 0 ODZ4 nsv516542 11 78131293 78140463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681211,nssv691998,nssv669008 M 2026 0 3 ODZ4 esv267403 11 78173577 78173925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503381,essv2509096,essv2506233,essv2513499,essv2499594 M 157 5 0 Samples from several populations that are part of the HapMap project. ODZ4 NA07357,NA12716,NA18522,NA18523,NA18907 esv998787 11 78193973 78193973 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582640 S 3 1 0 ODZ4 HuRef esv1231369 11 78193974 78193974 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287253 S 2 1 0 ODZ4 HuRef esv6428 11 78223738 78223841 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28869 S 1 1 0 ODZ4 SJK nsv509436 11 78395603 78478965 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623481 S 4 1 0 ODZ4 NA18994 nsv507602 11 78426103 78432103 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619050 S 4 1 0 ODZ4 NA10860 nsv401 11 78448265 78481641 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8936 S 9 1 0 ODZ4 NA12156 nsv897947 11 78491686 78537001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529855 S 6533 0 1 ODZ4 MS10123 dgv1228n71 11 78499593 78575110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897948,nsv897949,nsv897950 M 6533 0 4 ODZ4 SP52332,SP53964,SP54048,SP55647 esv2649079 11 78513370 78513593 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262643 S 1 0 1 ODZ4 NA18507 esv28740 11 78568196 78569237 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14450 S 451 0 1 ODZ4 NA12004 nsv519911 11 78568853 78575110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659449,nssv689166 M 2026 0 2 ODZ4 nsv832214 11 78582182 78798846 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449354 S 95 1 0 ODZ4 nsv832216 11 78659942 78843378 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449355 S 95 1 0 ODZ4 esv270647 11 78661096 78661181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516294 S 157 1 0 Samples from several populations that are part of the HapMap project. ODZ4 NA12814 esv274997 11 78693883 78694913 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585669 S 1250 0 1 ODZ4 esv1011297 11 78726808 78738782 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565009 S 3 0 1 ODZ4 HuRef esv273590 11 78869248 78869587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580138,essv2580278,essv2579373,essv2579631 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv268489 11 78869249 78869578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511407,essv2512468,essv2505002,essv2508896,essv2500258,essv2511739,essv2496264,essv2504532,essv2507895,essv2509324,essv2511146,essv2497975,essv2503739,essv2495122,essv2502690,essv2506922,essv2502144,essv2503986,essv2513103 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11920,NA12043,NA12828,NA12878,NA12891,NA18499,NA18511,NA18563,NA18564,NA18909,NA18944,NA18945,NA18960,NA18964,NA18965,NA19102,NA19257 esv1662898 11 78888437 78888437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685234 S 2 1 0 "" HuRef esv23661 11 78903834 78904569 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10609 S 451 0 1 "" NA06985 nsv402 11 78961916 79006625 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8937 S 9 0 1 "" NA12156 nsv521386 11 79023510 79026494 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697996 S 2026 0 1 "" esv28840 11 79068082 79073492 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16279 S 451 0 1 "" NA19114 nsv38973 11 79153257 79158168 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57551 M 24 "" nsv403 11 79306395 79340167 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8938 S 9 1 0 "" NA12156 esv271282 11 79307807 79309382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509948,essv2501141,essv2508915,essv2497483 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18516,NA18522,NA19147 nsv404 11 79422823 79453409 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1947 S 9 1 0 "" NA18555 nsv897951 11 79446458 79504699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592980 S 6533 0 1 "" IS39330 esv1002479 11 79461553 79462716 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565375 S 3 1 0 "" HuRef esv274950 11 79475198 79478811 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585943,essv2585153 M 1250 1 1 "" esv23944 11 79550546 79551442 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20217 S 451 1 0 "" NA12489 esv2477338 11 79608848 79610214 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183113 S 1 0 1 "" NA18507 dgv399e1 11 79645152 79660988 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10972,essv17221,essv13369 M 271 0 0 "" NA18857,NA19092,NA19159 dgv400e1 11 79645152 79693784 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv943,essv11462 M 271 0 0 "" NA18856 nsv516941 11 79650193 79667948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655785,nssv673078,nssv687170,nssv679639,nssv693659,nssv691897,nssv665356,nssv689303,nssv658816,nssv688218,nssv660824,nssv654438,nssv685687,nssv682740,nssv678722,nssv653852,nssv654313,nssv656538,nssv657155,nssv670227,nssv653328,nssv687001,nssv672301,nssv654721,nssv653478,nssv658206,nssv654465,nssv699789,nssv653209,nssv664449,nssv656696,nssv677521,nssv669959 M 2026 0 33 "" esv27486 11 79650354 79660931 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12074 S 451 0 1 "" NA18502 nsv442623 11 79650579 79659825 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv401e1 11 79650581 79660988 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13353,essv12863 M 271 0 0 "" NA18500,NA18502 essv9578 11 79650581 79665876 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18501 nsv514634 11 79651416 79659520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628110 S 1414 0 1 "" nsv8842 11 79651987 79668072 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19344,nssv22837 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18975 esv34207 11 79653765 79661000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988108,essv6979130 M 771 0 1 "" NA18500 nsv523898 11 79731102 79732182 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699741 S 2026 1 0 "" nsv405 11 79769563 79814331 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8939 S 9 0 1 "" NA12156 nsv507603 11 79798883 79804883 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617816,nssv620316,nssv622984 M 4 3 0 "" CHM,NA15510,NA18994 nsv468644 11 79806357 79853868 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543736 S 1557 1 0 "" 1782681278_A nsv897952 11 79846838 79913095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581727 S 6533 0 1 "" IS35701 esv1991964 11 79920387 79920860 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914456 S 1 0 1 "" NA18507 nsv406 11 79928615 79961831 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3968 S 9 1 0 "" NA12878 nsv526424 11 79933124 79960012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702725 S 2026 0 1 "" esv1718174 11 79972197 79972197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339046 S 2 1 0 "" HuRef esv274899 11 79981182 79994819 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585619 S 1250 0 1 "" dgv229n67 11 79983709 79990373 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826001,nsv826002 M 31 0 4 "" AK6,NA18542,NA18547,NA18972 nsv897953 11 79988714 80022121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531672,nssv1531812 M 6533 0 2 "" MS10591,MS10666 nsv897954 11 79988714 80631469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548190 S 6533 1 0 "" MS17730 nsv832217 11 79997894 80194218 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449356 S 95 1 0 "" dgv1229n71 11 80016885 80083271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897957,nsv897956,nsv897955 M 6533 0 3 "" IS41971,MS19584,MS21325 nsv407 11 80018396 80052495 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1023 S 9 1 0 "" NA19240 nsv519003 11 80022121 80023860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696472 S 2026 0 1 "" nsv897958 11 80046004 80194143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501654 S 6533 0 1 "" SP51058 nsv408 11 80075336 80113138 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8940 S 9 0 1 "" NA12156 dgv402e1 11 80076875 80080035 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1329,essv16597 M 271 0 0 "" NA18860 nsv897959 11 80138145 80244044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599722 S 6533 0 1 "" IS41780 nsv526924 11 80204073 80214984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703288 S 2026 0 1 "" esv22675 11 80276191 80279514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17672 S 451 0 1 "" NA19257 esv22116 11 80389080 80389924 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12851 S 451 0 1 "" NA12044 nsv897960 11 80473634 80527208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536129 S 6533 0 1 "" MS12634 nsv826003 11 80534267 80534782 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422054 S 31 0 1 "" NA18997 nsv442234 11 80550138 80556840 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv403e1 11 80553027 80556842 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1128,essv16565 M 271 0 0 "" NA19193 nsv818851 11 80553633 80570961 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418497 S 112 0 1 "" NA19193 nsv442235 11 80575854 80583265 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv522268 11 80580086 80582116 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695048 S 2026 1 0 "" nsv527578 11 80580086 81167347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704039 S 2026 0 1 "" esv275235 11 80606457 80636042 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585685,essv2585667 M 1250 1 1 "" esv2295457 11 80622402 80622846 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746315 S 1 0 1 "" NA18507 nsv468646 11 80626998 80669801 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543737 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01356 dgv158n27 11 80661868 80692622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468648,nsv468647 M 1557 0 2 "" HGDP00467,HGDP01090 nsv469971 11 80661868 80692622 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546196,nssv546195 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00467,HGDP01090 nsv519460 11 80661868 80692622 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685478,nssv659413,nssv676104,nssv675790,nssv657156,nssv674159,nssv656274,nssv678925,nssv686099 M 2026 0 9 "" dgv404e1 11 80665959 80695621 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15913,essv7965,esv1388 M 271 0 0 "" NA19203,NA19205 nsv832218 11 80681937 80883273 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449357 S 95 1 0 "" nsv469972 11 80756024 80789951 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546197 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00346 nsv832219 11 80770275 80907293 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449358 S 95 1 0 "" nsv897961 11 80771053 80898412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545811,nssv1544851 M 6533 0 2 "" MS16555,MS16959 nsv510262 11 80819781 80825781 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624014 S 4 0 1 "" NA18994 esv2006397 11 80825677 80826113 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802887 S 1 0 1 "" NA18507 esv1003192 11 80825778 80825891 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578717 S 3 0 1 "" HuRef nsv38490 11 80825779 80825892 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57068 M 24 "" esv1443463 11 80825894 80826008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643329 S 2 0 1 "" HuRef nsv468649 11 80827181 80870289 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543740 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01213 nsv38542 11 80843408 80852951 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57120 M 24 "" nsv897962 11 80852645 80898412 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513582 S 6533 1 0 "" SP55800 esv22677 11 80865631 80867115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19355 S 451 0 3 "" NA19147,NA19225,NA19240 esv272380 11 80867110 80867195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581225 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2563958 11 80910112 80913139 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390422 S 1 0 1 "" NA18507 nsv469973 11 80943752 81041583 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546199 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01029 esv272698 11 80961477 80961855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580311,essv2579958 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv269924 11 80961496 80961842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521411,essv2568272,essv2525318,essv2535218,essv2547218,essv2564133,essv2528405,essv2546939,essv2551751,essv2532150,essv2558726,essv2536810,essv2561558,essv2544605,essv2523614,essv2541436,essv2542726,essv2540616,essv2524578,essv2564874,essv2534812,essv2561198,essv2539605,essv2549325,essv2519515,essv2559933,essv2522235,essv2566152,essv2530971,essv2567798,essv2528785,essv2567538,essv2541676,essv2535896,essv2572218,essv2559028,essv2551157,essv2569145,essv2533859,essv2573141,essv2533746,essv2555750,essv2566605,essv2555892,essv2534381,essv2522374,essv2531537,essv2573590,essv2543219,essv2526736,essv2529831,essv2575505,essv2526550,essv2524273,essv2571503,essv2532939 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11894,NA11995,NA12156,NA12249,NA12717,NA12828,NA12891,NA12892,NA18504,NA18505,NA18516,NA18517,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18608,NA18609,NA18638,NA18858,NA18861,NA18916,NA18942,NA18944,NA18945,NA18948,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA19005,NA19093,NA19099,NA19114,NA19129,NA19238 nsv897963 11 80969022 81030361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564145 S 6533 0 1 "" IS30171 nsv897964 11 80976917 81097609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569101 S 6533 0 1 "" IS31419 nsv510263 11 80984247 80990247 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622085,nssv621271,nssv618347,nssv624015 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv468651 11 80995594 81041583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543742 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01029 essv7465 11 80996713 81126163 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18633 esv689 11 80996713 81508270 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 MIR4300 nsv897965 11 81005553 81088723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591484 S 6533 0 1 "" IS38846 esv34835 11 81016689 81126163 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989121,essv6988247,essv6979808,essv6979809,essv6988248 M 771 0 1 "" NA18633 nsv897966 11 81034855 81430391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528143,nssv1528127 M 6533 0 2 MIR4300 SP81141,SP81144 dgv1230n71 11 81055781 81119050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897967,nsv897968 M 6533 0 2 "" IS41317,MS14512 nsv525371 11 81075126 81094768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701492 S 2026 0 1 "" dgv405e1 11 81088432 81508270 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22788,essv18528,essv17596,essv23810 M 271 0 0 MIR4300 NA12753,NA12763 nsv522551 11 81094768 81230803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705932 S 2026 0 1 "" nsv897969 11 81107016 81181640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565706 S 6533 0 1 "" IS30507 nsv897970 11 81111941 81139014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523186 S 6533 0 1 "" SP53745 dgv53e55 11 81126163 81470451 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34312,esv34646 M 771 0 2 MIR4300 NA12753,NA12763 nsv437132 11 81126528 81451497 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467013 S 60 0 1 Samples from several populations that are part of the HapMap project. MIR4300 NA12753 nsv897971 11 81130034 81268892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582620 S 6533 0 1 "" IS36051 nsv897972 11 81136110 81166337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584647 S 6533 0 1 "" IS37103 nsv897973 11 81139014 81157641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534577 S 6533 0 1 "" MS11669 esv2655241 11 81145688 81145842 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162064 S 1 0 1 "" NA18507 nsv897974 11 81146266 81157641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581763 S 6533 0 1 "" IS35717 nsv897975 11 81148189 81201520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583066 S 6533 0 1 "" IS36244 nsv8843 11 81148927 81152311 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22984,nssv20103,nssv23806,nssv22453 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA18504,NA18517,NA18860 dgv230n67 11 81149286 81150983 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826004,nsv826005 M 31 2 0 "" AK20,NA18592 nsv826006 11 81149286 81156751 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430812 S 31 1 0 "" AK16 nsv897976 11 81150420 81786573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563513 S 6533 1 0 MIR4300 MS26069 esv28307 11 81150761 81156045 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17368 S 451 1 0 "" NA18505 nsv519004 11 81152288 81157641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696473 S 2026 0 1 "" nsv897977 11 81159088 81173907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513044 S 6533 0 1 "" SP55671 dgv159n27 11 81159302 81164606 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468652,nsv468653 M 1557 0 2 "" 1780854261_A,1780862432_A dgv1231n71 11 81160735 81201520 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897978,nsv897979 M 6533 0 2 "" IS30532,IS41924 dgv1232n71 11 81161723 81257512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897982,nsv897980,nsv897986 M 6533 0 3 "" MS16334,MS18847,MS20670 nsv897981 11 81164606 81183111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560217 S 6533 1 0 "" MS24373 nsv8844 11 81166938 81170190 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23012 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 dgv1233n71 11 81169342 81194909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897987,nsv897983 M 6533 0 3 "" SP52124,SP52412,SP57482 dgv1234n71 11 81169342 81205840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897984,nsv897990,nsv897988,nsv897993,nsv897989,nsv897985,nsv897991 M 6533 0 37 "" IS31302,IS41448,MS16361,MS22008,SP50615,SP50725,SP50859,SP50921,SP50977,SP51051,SP51057,SP51477,SP52008,SP52137,SP52432,SP52925,SP52951,SP53583,SP53964,SP54002,SP54407,SP54583,SP54680,SP54681,SP54682,SP55264,SP55267,SP55433,SP55565,SP55660,SP55670,SP56022,SP56104,SP56926,SP58166,SP58209,SP80932 essv101789 11 81171981 81193273 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA19192 dgv160n27 11 81172140 81194909 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468654,nsv468656,nsv468658,nsv468662,nsv468655 M 1557 0 5 "" 1782681080_A,HGDP00145,HGDP00563,NINDS_36,NINDS_91 dgv161n27 11 81174591 81201656 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468659,nsv468754,nsv468657,nsv468749,nsv468753,nsv468660,nsv468758,nsv468752,nsv468755,nsv468751,nsv468756,nsv468757 M 1557 0 12 "" 1780854016_A,1780854017_A,1780854253_A,HGDP00078,HGDP00151,HGDP00567,HGDP00639,HGDP01169,HGDP01237,HGDP01329,HGDP01362,NINDS_101 essv18539 11 81175188 81194806 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11993 dgv406e1 11 81175527 81208645 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22718,essv2386,essv11399,essv23716,essv25150,essv3836,essv3930 M 271 0 0 "" NA11839,NA12239,NA12813,NA18953,NA18970,NA18976,NA19192 nsv897992 11 81176883 81210436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578460,nssv1551646 M 6533 0 2 "" IS34782,MS18965 esv26166 11 81178140 81199336 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11869 S 451 0 6 "" NA07037,NA07045,NA11993,NA12239,NA12414,NA12489 nsv8845 11 81178883 81203954 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20000,nssv18341,nssv19896,nssv18455,nssv19142 M 31 1 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA10863,NA12872,NA18853 nsv826007 11 81178891 81202091 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428552 S 31 0 1 "" NA18968 dgv162n27 11 81181640 81191362 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468664,nsv468663 M 1557 0 2 "" 1780854118_A,1780854159_A dgv163n27 11 81181640 81194909 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468745,nsv468680,nsv468746,nsv468721,nsv468729,nsv468715,nsv468710,nsv468723,nsv468702,nsv468704,nsv468726,nsv468725,nsv468735,nsv468692,nsv468693,nsv468677,nsv468682,nsv468700,nsv468730,nsv468744,nsv468742,nsv468733,nsv468743,nsv468747,nsv468712,nsv468689,nsv468681,nsv468724,nsv468678,nsv468686,nsv468719,nsv468717,nsv468748,nsv468713,nsv468708,nsv468691,nsv468688,nsv468741,nsv468711,nsv468701,nsv468671,nsv468737,nsv468740,nsv468669,nsv468684,nsv468687,nsv468667,nsv468679,nsv468714,nsv468707,nsv468690,nsv468706,nsv468738,nsv468731,nsv468703,nsv468685,nsv468698,nsv468709,nsv468673,nsv468665,nsv468722,nsv468675,nsv468718,nsv468699,nsv468696,nsv468720,nsv468670,nsv468666,nsv468676,nsv468668,nsv468674,nsv468697,nsv468734,nsv468732,nsv468736,nsv468695 M 1557 0 76 "" 1780862391_A,HGDP00007,HGDP00013,HGDP00064,HGDP00092,HGDP00131,HGDP00140,HGDP00143,HGDP00148,HGDP00158,HGDP00175,HGDP00177,HGDP00185,HGDP00224,HGDP00234,HGDP00267,HGDP00302,HGDP00319,HGDP00323,HGDP00326,HGDP00356,HGDP00359,HGDP00372,HGDP00376,HGDP00402,HGDP00407,HGDP00491,HGDP00514,HGDP00531,HGDP00541,HGDP00548,HGDP00558,HGDP00575,HGDP00584,HGDP00607,HGDP00619,HGDP00622,HGDP00646,HGDP00656,HGDP00678,HGDP00679,HGDP00685,HGDP00686,HGDP00696,HGDP00735,HGDP00736,HGDP00806,HGDP00814,HGDP00881,HGDP00882,HGDP00949,HGDP00950,HGDP00956,HGDP00959,HGDP01065,HGDP01073,HGDP01075,HGDP01162,HGDP01168,HGDP01186,HGDP01256,HGDP01272,HGDP01277,HGDP01282,HGDP01331,HGDP01336,HGDP01339,HGDP01345,HGDP01358,HGDP01368,HGDP01372,HGDP01399,HGDP01401,HGDP01402,HGDP01414,NINDS_225 nsv515963 11 81181640 81194909 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682697,nssv652379,nssv659492,nssv690883,nssv677588,nssv665704,nssv682638,nssv696228,nssv674300,nssv686415,nssv671979,nssv651667,nssv693006,nssv654047,nssv672013,nssv664562,nssv685554,nssv671766,nssv654772,nssv669863,nssv673107,nssv655707,nssv668504,nssv677957,nssv654562,nssv684347,nssv672129,nssv684589,nssv678529,nssv682763,nssv659112,nssv664403,nssv667855,nssv675106,nssv681459,nssv666850,nssv680932,nssv688857,nssv670994,nssv681274,nssv653298,nssv675495,nssv673079,nssv670932,nssv658346,nssv671414,nssv685998,nssv655442,nssv683913,nssv683333,nssv662728,nssv659555,nssv692421,nssv680011,nssv651843,nssv674654,nssv679773,nssv672389,nssv668536,nssv657985,nssv687839,nssv671465,nssv664001,nssv666203,nssv672698,nssv656773,nssv655465,nssv677372,nssv664775,nssv691667,nssv679841,nssv669355,nssv659737,nssv678663,nssv654466,nssv652302,nssv675207,nssv672944,nssv688000,nssv689233,nssv689328,nssv669032,nssv662694,nssv661251,nssv684192,nssv701985,nssv670197,nssv669669,nssv660648,nssv693757,nssv678550,nssv668075,nssv682106,nssv670730,nssv661220,nssv690032,nssv652353,nssv662638,nssv664683,nssv671697,nssv666667,nssv672521,nssv659032,nssv679253,nssv691325,nssv655356,nssv669791,nssv671888,nssv672367,nssv666509,nssv681640,nssv689167,nssv672856,nssv683638,nssv676571,nssv662678,nssv680958,nssv680875,nssv652576,nssv692889,nssv683973,nssv670064,nssv688219,nssv688291,nssv673648,nssv663794,nssv652504,nssv661828,nssv673045,nssv666610,nssv681439,nssv686975,nssv684161,nssv691898,nssv659682,nssv662266,nssv685224,nssv673138,nssv684486,nssv677844,nssv657869,nssv681479,nssv692202,nssv685754,nssv656048,nssv676044,nssv667869,nssv684731,nssv669960,nssv668806,nssv655206,nssv689482,nssv672490,nssv666028,nssv688714,nssv657947,nssv682863,nssv682622,nssv679165,nssv677185,nssv659142,nssv670775,nssv656301,nssv656245,nssv692370,nssv674584,nssv673943,nssv691570,nssv681762,nssv659100,nssv660194,nssv676792,nssv682568,nssv680372,nssv682255,nssv678747,nssv687318,nssv674700,nssv662878,nssv676292,nssv687981,nssv685530,nssv651928,nssv666071,nssv686563,nssv669060,nssv668240,nssv668919,nssv679060,nssv652998,nssv662844,nssv691057,nssv664890,nssv677890,nssv670583,nssv679187,nssv675854,nssv685976,nssv662485,nssv679970,nssv659708,nssv680993,nssv678590,nssv667542,nssv652524,nssv676804,nssv655987,nssv693528,nssv676408,nssv664606,nssv662400,nssv669829,nssv652621,nssv693184,nssv666388,nssv692623,nssv685396,nssv679556,nssv681797,nssv679752,nssv655663,nssv655897,nssv685330,nssv680665,nssv662978,nssv679292,nssv658911,nssv686909,nssv684667,nssv662710,nssv661897,nssv688326,nssv680237,nssv657528,nssv690723,nssv685772,nssv655059,nssv657931,nssv673333,nssv656743,nssv691248,nssv703641,nssv695411,nssv669621,nssv694008,nssv673022,nssv684857,nssv693626,nssv656158,nssv675985,nssv685575,nssv691305,nssv675384,nssv663753,nssv666148,nssv657913,nssv667058,nssv691202,nssv661138,nssv671013,nssv674046,nssv655625,nssv662746,nssv686893,nssv667376,nssv654841,nssv676544,nssv693828,nssv691154,nssv672654,nssv685688,nssv675867,nssv667022,nssv678045,nssv690977,nssv672103,nssv665556,nssv674141,nssv666492,nssv683429,nssv693774,nssv654688,nssv668125,nssv653567 M 2026 1 283 "" nsv818852 11 81181640 81194909 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416090,nssv1417455,nssv1417060,nssv1416664,nssv1416588,nssv1416928,nssv1418390,nssv1415859,nssv1417062,nssv1415780,nssv1418391,nssv1418498,nssv1418499,nssv1415860,nssv1417524,nssv1418389,nssv1417919,nssv1415687 M 112 0 18 "" NA06994,NA07029,NA10847,NA10860,NA11993,NA12043,NA12146,NA12239,NA12249,NA12813,NA12875,NA18853,NA18953,NA18968,NA19119,NA19172,NA19192,NA19194 dgv407e1 11 81181640 81202309 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8590,essv947,essv18875,essv21082,essv1693 M 271 0 0 "" NA07029,NA10854,NA18968,NA18981,NA19130 esv33777 11 81183084 81192438 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95447,essv95252,essv96589,essv93569,essv98039,essv97691,essv100257,essv100490 M 51 0 8 "" 21847,21872,22011,22128,22259,22278,22286,22298 esv2421674 11 81189919 81194913 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090579,essv5032522,essv5067185,essv5014350,essv5014358,essv5116663,essv5064443,essv5009411,essv5076543,essv5008687,essv5036034,essv5033213,essv5106719,essv5061746,essv5143012,essv5119822,essv5070421,essv5079201,essv5124492,essv5112928,essv5045106,essv5124988,essv5149946,essv5094323,essv5087147,essv5128058,essv5073724,essv5158570,essv5096947,essv5131177,essv5018261,essv5097877,essv5080323,essv5136970,essv5033441,essv5052948,essv5144885,essv5010183,essv5089407,essv5084261,essv5119441,essv5085565,essv5127922,essv5136753,essv5011459,essv5006018,essv5003710,essv5093289,essv5024976,essv5142774,essv5029359,essv5013873,essv5140332,essv5140363,essv5077418,essv5159636,essv5016177,essv5117051,essv5100598,essv5096604,essv5118497,essv5063205,essv5020982,essv5133773,essv5112752,essv5021264,essv5025091,essv5006502,essv5073185,essv5122803,essv5142112,essv5071375,essv5011273,essv5045787,essv5019477,essv5120824,essv5124938,essv5129681,essv5052490,essv5124108,essv5118777,essv5119728,essv5108902,essv5089623,essv5031978,essv5069889,essv5029978,essv5053899,essv5090610,essv5077426,essv5102915,essv5106264,essv5101559,essv5104412,essv5077822,essv5117163,essv5006365,essv5141334,essv5149651,essv5150713,essv5078863,essv5117947,essv5129980,essv5102743,essv5138681,essv5026849,essv5083671,essv5099505,essv5037316,essv5010994,essv5071293,essv5003698,essv5097074,essv5055544,essv5130552,essv5059002,essv5088010,essv5121514,essv5102801,essv5006863,essv5015963,essv5156768,essv5115118,essv5077955,essv5127576,essv5154375,essv5099588,essv5086731,essv5028799,essv5073305,essv5127648,essv5101910,essv5121641,essv5061827,essv5050483,essv5045284,essv5117566,essv5073099,essv5106058,essv5132250,essv5025820,essv5029926,essv5146304,essv5027936,essv5044503,essv5146278,essv5023771,essv5017658,essv5040745,essv5069460,essv5096882,essv5083149,essv5086555,essv5094121,essv5116249,essv5003925,essv5152304,essv5077484,essv5078708,essv5034650,essv5087651,essv5135623,essv5156682,essv5128772,essv5043596,essv5127122,essv5112333,essv5068364,essv5041580,essv5077891,essv5068318,essv5104349,essv5101542,essv5096404,essv5078087,essv5053651,essv5128792,essv5030376,essv5057743,essv5083639,essv5125489 M 1184 0 181 "" NA06989,NA06994,NA06997,NA07029,NA07037,NA07045,NA07346,NA07349,NA10837,NA10847,NA10854,NA11839,NA11892,NA11918,NA11993,NA12043,NA12045,NA12146,NA12239,NA12249,NA12272,NA12399,NA12489,NA12546,NA12708,NA12718,NA12753,NA12763,NA12813,NA12827,NA12872,NA12875,NA17965,NA17981,NA17987,NA18109,NA18124,NA18138,NA18148,NA18149,NA18532,NA18562,NA18853,NA18953,NA18968,NA18970,NA18976,NA18981,NA19010,NA19027,NA19065,NA19119,NA19130,NA19172,NA19178,NA19192,NA19194,NA19207,NA19208,NA19209,NA19211,NA19236,NA19316,NA19334,NA19371,NA19391,NA19431,NA19462,NA19654,NA19658,NA19659,NA19675,NA19679,NA19682,NA19700,NA19720,NA19723,NA19724,NA19770,NA19772,NA19779,NA19780,NA19781,NA19795,NA19914,NA19915,NA19916,NA19982,NA19983,NA20279,NA20282,NA20357,NA20519,NA20520,NA20527,NA20529,NA20530,NA20540,NA20588,NA20589,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20792,NA20809,NA20812,NA20845,NA20847,NA20849,NA20853,NA20859,NA20870,NA20876,NA20877,NA20885,NA20887,NA20894,NA20896,NA20901,NA20902,NA20906,NA20908,NA20911,NA21088,NA21092,NA21094,NA21099,NA21103,NA21111,NA21116,NA21117,NA21142,NA21143,NA21302,NA21303,NA21339,NA21352,NA21356,NA21370,NA21381,NA21383,NA21388,NA21390,NA21414,NA21415,NA21418,NA21434,NA21435,NA21441,NA21442,NA21473,NA21486,NA21487,NA21489,NA21490,NA21491,NA21513,NA21514,NA21520,NA21522,NA21523,NA21524,NA21525,NA21575,NA21576,NA21596,NA21597,NA21615,NA21619,NA21632,NA21634,NA21635,NA21648,NA21686,NA21716,NA21718,NA21719 nsv442236 11 81189919 81194913 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1235n71 11 81191362 81240906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv897996,nsv897994 M 6533 0 2 "" SP50725,SP57401 nsv897995 11 81191362 81255017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503657 S 6533 0 1 "" SP52093 nsv514635 11 81192024 81194880 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628111 S 1414 0 1 "" nsv897997 11 81194909 81240102 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593798 S 6533 1 0 "" IS39521 dgv1236n71 11 81194909 81284672 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv897998,nsv898000,nsv897999 M 6533 5 0 MIR4300 IS33797,IS41906,MS18413,MS18451,MS21236 nsv898001 11 81194909 81371633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565707 S 6533 0 1 MIR4300 IS30507 nsv898002 11 81194909 81448711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597103 S 6533 0 1 MIR4300 IS40735 nsv468759 11 81201520 81284672 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543850 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4300 HGDP00185 nsv519571 11 81203793 81205854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696926 S 2026 0 1 "" dgv1237n71 11 81212151 81244764 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898004,nsv898003 M 6533 0 2 "" IS35114,IS35777 nsv898005 11 81226824 81284672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584528 S 6533 0 1 MIR4300 IS37062 esv2534064 11 81233247 81235113 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220917 S 1 0 1 "" NA18507 esv2380665 11 81233627 81234385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876910 S 1 0 1 "" NA18507 esv6276 11 81233754 81234188 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28717 S 1 0 1 "" SJK nsv38847 11 81233820 81234186 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57425 M 24 "" nsv468760 11 81234419 81246574 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543851 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01043 nsv469974 11 81238724 81246574 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546201,nssv546200 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01046,HGDP01050 nsv898006 11 81245601 81268892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545531 S 6533 0 1 "" MS16824 nsv525372 11 81253579 81254419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701493 S 2026 0 1 "" nsv468762 11 81253579 81275675 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543853 S 1557 0 1 "" 1798860071_A nsv507604 11 81280541 81286541 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620324,nssv622995 M 4 2 0 "" NA15510,NA18994 esv269186 11 81301135 81301488 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511904,essv2495002,essv2509112,essv2507061,essv2494048,essv2497480,essv2496901,essv2502098 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18520,NA18522,NA18870,NA18871,NA19147,NA19190,NA19257 dgv1238n71 11 81328717 81406364 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898007,nsv898008,nsv898009 M 6533 9 0 "" MS10636,MS10686,MS11337,MS13491,MS14396,MS14591,MS18217,MS23713,MS24001 nsv8847 11 81353009 81357638 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23111 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv22508 11 81353548 81354564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18792 S 451 0 1 "" NA19147 nsv898010 11 81358036 81656725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574356 S 6533 0 1 "" IS33545 nsv8848 11 81427753 81432462 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18469 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv898011 11 81461943 81542112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598127 S 6533 0 1 "" IS41008 nsv409 11 81519610 81551863 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3969 S 9 0 1 "" NA12878 nsv498762 11 81534061 81540994 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585465 S 9 0 1 "" esv26382 11 81534064 81541768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17962 S 451 0 10 "" NA06985,NA07037,NA07045,NA12287,NA12489,NA12776,NA12878,NA18511,NA18861,NA18916 nsv514636 11 81535904 81539400 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628112 S 1414 0 1 "" nsv826009 11 81536909 81541037 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441352 S 31 0 1 "" NA18969 esv1084053 11 81550385 81550385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998234 S 2 1 0 "" HuRef nsv826010 11 81586119 81586557 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424451 S 31 0 1 "" NA18582 esv268617 11 81603793 81604132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558163,essv2521255,essv2570763,essv2523427,essv2570392,essv2521621,essv2535486,essv2544269,essv2564254,essv2530645,essv2537743,essv2548638 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10851,NA11894,NA11993,NA12004,NA12044,NA12144,NA12249,NA12414,NA12828,NA12873 dgv1239n71 11 81631410 81706676 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898013,nsv898012 M 6533 0 2 "" SP52197,SP57324 esv2612666 11 81645215 81646648 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201660 S 1 0 1 "" NA18507 esv995508 11 81742215 81742217 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569439 S 3 1 0 "" HuRef esv1360819 11 81742228 81742228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041232 S 2 1 0 "" HuRef nsv471751 11 81809848 81810289 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646032 M 0.173 95 "" nsv412 11 81811688 81856330 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8941 S 9 0 1 "" NA12156 nsv832220 11 81814941 82003096 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449359 S 95 1 0 "" nsv898014 11 81821631 81897755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585096 S 6533 1 0 "" IS37270 nsv832221 11 81890832 82085279 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449364,nssv1449363,nssv1449361,nssv1449360,nssv1449365,nssv1449368,nssv1449367,nssv1449366 M 95 8 0 "" nsv471752 11 81899451 81899585 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646033 M 0.338 95 "" esv33531 11 81909575 83194350 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95646 S 51 0 1 ANKRD42,C11orf82,CCDC90B,DLG2,FAM181B,LOC100506233,PCF11,PRCP,RAB30,SNORA70E 21841 esv1036434 11 82014326 82014326 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793418 S 2 1 0 "" HuRef esv269489 11 82025959 82026265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496777,essv2501054,essv2509197,essv2510862 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18856,NA18909,NA19116 esv2399219 11 82039513 82039933 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506814 S 1 0 1 "" NA18507 nsv826011 11 82119285 82119851 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422055 S 31 1 0 "" NA18997 nsv413 11 82120752 82156204 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3970 S 9 1 0 FAM181B NA12878 esv2518812 11 82137408 82141424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331214 S 1 0 1 "" NA18507 esv2278802 11 82138045 82141135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919572 S 1 0 1 "" NA18507 nsv898015 11 82143091 82206468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585063 S 6533 1 0 "" IS37238 nsv898016 11 82206468 82216959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505150 S 6533 0 1 PRCP SP53276 nsv515868 11 82263004 82370170 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663774,nssv665090 M 2026 2 0 C11orf82,PRCP,RAB30 esv2290101 11 82277508 82277996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754056 S 1 0 1 PRCP NA18507 nsv38781 11 82277696 82277813 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57359 M 24 PRCP nsv414 11 82454156 82486106 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1024 S 9 1 0 LOC100506233,RAB30 NA19240 nsv468763 11 82474071 82514027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543854 S 1557 0 1 "" NINDS_236 nsv512235 11 82514956 82523916 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624806 S 1 0 1 "" 1 nsv468764 11 82645611 82649745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543855 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00052 esv29229 11 82806136 82813587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16713 S 451 0 2 "" NA18523,NA18916 esv8265 11 83071624 83071703 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30706 S 1 1 0 DLG2 SJK esv270109 11 83102888 83103197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571719,essv2576199,essv2538325,essv2543022,essv2524559,essv2534931,essv2549253,essv2535760,essv2559059,essv2566629,essv2530011,essv2543072 M 157 12 0 Samples from several populations that are part of the HapMap project. DLG2 NA11840,NA12814,NA18547,NA18550,NA18555,NA18561,NA18564,NA18608,NA18638,NA18948,NA18949,NA18965 esv2589653 11 83141603 83146119 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161632 S 1 0 1 DLG2 NA18507 esv1959476 11 83142122 83145757 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546271 S 1 0 1 DLG2 NA18507 esv22170 11 83142640 83145551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15304 S 451 0 3 DLG2 NA18916,NA19114,NA19240 esv2544219 11 83143450 83145450 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379257 S 1 0 1 DLG2 NA18507 esv26008 11 83210454 83216423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14634 S 451 0 1 DLG2 NA18861 dgv1240n71 11 83233715 83264174 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898017,nsv898018 M 6533 2 0 DLG2 SP56960,SP58265 dgv1241n71 11 83233715 83280015 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898020,nsv898023,nsv898019,nsv898022,nsv898021 M 6533 7 0 DLG2 SP53876,SP54362,SP55807,SP56878,SP57322,SP58548,SP80919 nsv898024 11 83254108 83280015 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515521 S 6533 1 0 DLG2 SP56215 nsv516859 11 83257555 83258281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654492,nssv654883 M 2026 0 2 DLG2 nsv468765 11 83269232 83298588 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543856 S 1557 0 1 DLG2 1780854279_A esv2618406 11 83294774 83294924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318756 S 1 0 1 DLG2 NA18507 nsv527778 11 83298435 83298588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704269 S 2026 0 1 DLG2 esv273492 11 83314669 83314989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580174,essv2580341 M 7 2 0 Samples from several populations that are part of the HapMap project. DLG2 NA12878,NA12891 esv269776 11 83329975 83330060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519211,essv2514980 M 157 2 0 Samples from several populations that are part of the HapMap project. DLG2 NA11894,NA12812 dgv1242n71 11 83336557 83474326 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898025,nsv898026 M 6533 0 2 DLG2 IS41803,MS22353 esv267715 11 83338085 83338326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571577,essv2523475,essv2527174,essv2544789,essv2540365,essv2534761,essv2567654,essv2567293,essv2569876,essv2535717,essv2572440,essv2530077,essv2531350,essv2524133,essv2560312 M 157 15 0 Samples from several populations that are part of the HapMap project. DLG2 NA11840,NA12004,NA18522,NA18526,NA18552,NA18561,NA18577,NA18582,NA18593,NA18608,NA18609,NA18949,NA18961,NA19129,NA19190 dgv1243n71 11 83395535 83495008 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898028,nsv898027 M 6533 0 2 DLG2 IS41848,MS22741 nsv898029 11 83395535 83617239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581648 S 6533 0 1 DLG2 IS35675 nsv898030 11 83408218 83467188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563987 S 6533 0 1 DLG2 IS30141 esv2751034 11 83479618 83517920 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982218,essv6986108,essv6982217 M 771 1 0 DLG2 BEC_404 esv1421802 11 83488882 83488882 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716389 S 2 1 0 DLG2 HuRef nsv513745 11 83504023 83522788 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626997 S 1 1 0 DLG2 1 nsv516717 11 83508907 83520146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659123,nssv655399,nssv684092,nssv671185,nssv670398 M 2026 5 0 DLG2 esv2456833 11 83560417 83561860 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318136 S 1 0 1 DLG2 NA18507 esv270247 11 83580659 83580998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517120,essv2514812,essv2516440,essv2515942,essv2515236,essv2518919,essv2518350 M 157 7 0 Samples from several populations that are part of the HapMap project. DLG2 NA11931,NA12234,NA12814,NA12873,NA19238,NA19239,NA19240 esv272606 11 83580662 83580993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584077,essv2584814,essv2583612 M 7 3 0 Samples from several populations that are part of the HapMap project. DLG2 NA19238,NA19239,NA19240 esv1005592 11 83580680 83580680 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572985 S 3 1 0 DLG2 HuRef nsv415 11 83602589 83647251 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8942 S 9 0 1 DLG2 NA12156 esv8123 11 83650038 83650094 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30564 S 1 1 0 DLG2 SJK nsv898031 11 83737990 84057319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563947 S 6533 0 1 DLG2 IS30134 nsv524869 11 83789032 83797668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700874 S 2026 0 1 DLG2 nsv507605 11 83796855 83802855 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622996 S 4 1 0 DLG2 NA18994 esv6392 11 83827929 83827994 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28833 S 1 1 0 DLG2 SJK nsv508642 11 83838434 83932755 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619964 S 4 0 1 DLG2 NA15510 nsv519456 11 83876556 83932969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696863 S 2026 0 1 DLG2 nsv520103 11 83882153 83886264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672302,nssv660774 M 2026 0 2 DLG2 nsv468766 11 83944833 84023477 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543857 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DLG2 HGDP00530 nsv898032 11 83952129 84042175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595604 S 6533 0 1 DLG2 IS40291 nsv898033 11 83997607 84028294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577977 S 6533 0 1 DLG2 IS34627 nsv898034 11 83997607 84042175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580616 S 6533 0 1 DLG2 IS35390 dgv1244n71 11 84097780 84175263 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898037,nsv898035 M 6533 0 3 DLG2 IS37628,IS38057,MS16506 nsv898036 11 84097780 84254292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529708 S 6533 0 1 DLG2 MS10109 nsv519411 11 84109695 84127155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672014,nssv656049,nssv680792,nssv673820 M 2026 0 4 DLG2 nsv527928 11 84127155 84226195 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704435 S 2026 1 0 DLG2 nsv898038 11 84127521 84164627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502233 S 6533 0 1 DLG2 SP51086 nsv898039 11 84127521 84199625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564188 S 6533 0 1 DLG2 IS30178 nsv898040 11 84202345 84278245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504745 S 6533 0 1 DLG2 SP52719 nsv468767 11 84214283 84249432 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543858 S 1557 0 1 DLG2 1798860102_A nsv8849 11 84214581 84249143 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18371 S 31 0 1 Samples from several populations that are part of the HapMap project. DLG2 NA12872 nsv516146 11 84215556 84254292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670024,nssv674270,nssv682650,nssv693145,nssv666471 M 2026 0 5 DLG2 esv1506583 11 84232793 84232851 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756866 S 2 0 1 DLG2 HuRef dgv408e1 11 84234326 84271303 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1175,essv19318 M 271 0 0 DLG2 NA12872 nsv510264 11 84311545 84317545 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622087 S 4 0 1 DLG2 NA10860 nsv898041 11 84319811 84399900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550352 S 6533 0 1 DLG2 MS18414 esv273727 11 84379335 84379626 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580475,essv2579903,essv2580772 M 7 3 0 Samples from several populations that are part of the HapMap project. DLG2 NA12891,NA12892,NA19238 esv269387 11 84379345 84379645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557804,essv2565686,essv2522880,essv2550669,essv2577817,essv2559412,essv2546959,essv2552518,essv2551794,essv2527358,essv2561682,essv2544939,essv2552900,essv2524535,essv2564925,essv2539730,essv2549405,essv2532870,essv2567915,essv2570330,essv2559086,essv2569002,essv2534014,essv2567218,essv2566470,essv2573855,essv2522536,essv2531485,essv2575448,essv2575233,essv2549733,essv2571520,essv2545824,essv2574173,essv2551567,essv2536205 M 157 36 0 Samples from several populations that are part of the HapMap project. DLG2 NA06986,NA10851,NA11829,NA11931,NA12155,NA12761,NA12776,NA12892,NA18502,NA18504,NA18522,NA18523,NA18526,NA18542,NA18555,NA18558,NA18563,NA18564,NA18576,NA18577,NA18593,NA18638,NA18861,NA18916,NA18947,NA18948,NA18951,NA18960,NA18961,NA19099,NA19102,NA19225,NA19238,NA19239,NA19240,NA19257 esv2544867 11 84400335 84401841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198828 S 1 0 1 DLG2 NA18507 esv2281631 11 84400653 84401097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949791 S 1 0 1 DLG2 NA18507 esv987708 11 84400831 84401033 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569216 S 3 0 1 DLG2 HuRef dgv75n21 11 84402443 84572681 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528491,nsv527535 M 2026 0 2 DLG2 esv269724 11 84473196 84473281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515726 S 157 1 0 Samples from several populations that are part of the HapMap project. DLG2 NA12815 nsv898042 11 84554869 84643085 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557082 S 6533 0 1 DLG2 MS22353 dgv1245n71 11 84572681 84898421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898044,nsv898043 M 6533 0 2 DLG2 IS41964,MS21258 nsv898045 11 84772249 84846218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558718 S 6533 0 1 DLG2 MS23495 esv2622674 11 84832061 84833360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177151 S 1 0 1 DLG2 NA18507 nsv898046 11 84858057 84978106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537872 S 6533 0 1 DLG2 MS13400 dgv1246n71 11 84858057 85081786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898048,nsv898047 M 6533 0 2 CCDC89,CREBZF,DLG2,TMEM126A,TMEM126B IS33196,IS41113 essv7704 11 84858128 85107139 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B NA18633 esv678 11 84858128 85281636 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 CCDC83,CCDC89,CREBZF,DLG2,SYTL2,TMEM126A,TMEM126B nsv8850 11 84862397 84864590 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23139 S 31 0 1 Samples from several populations that are part of the HapMap project. DLG2 NA19132 nsv898049 11 84909123 84969958 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564256 S 6533 0 1 DLG2 IS30193 nsv518780 11 84923420 84944441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696234 S 2026 0 1 DLG2 esv2471612 11 84925178 84928359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285922 S 1 0 1 DLG2 NA18507 esv2202413 11 84926026 84928220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687765 S 1 0 1 DLG2 NA18507 nsv416 11 84926365 84950487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3971 S 9 1 0 DLG2 NA12878 esv2421768 11 84941372 84948993 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5141766,essv5129605,essv5063345,essv5053424,essv5014110,essv5128795,essv5150993,essv5046494,essv5064635,essv5073773,essv5022687,essv5132064,essv5036279,essv5135501,essv5086761,essv5149652,essv5124269,essv5030989,essv5045277,essv5142227,essv5020848 M 1184 0 21 DLG2 NA10854,NA11832,NA11839,NA11992,NA12716,NA12889,NA19137,NA19719,NA19721,NA20519,NA20754,NA20812,NA20819,NA20895,NA21352,NA21434,NA21486,NA21487,NA21524,NA21573,NA21583 esv32962 11 84942421 84950332 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101353,essv95618,essv99155,essv97772 M 51 0 4 DLG2 21805,21841,22275,22278 nsv515581 11 84943969 84944441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692667,nssv686894,nssv663965,nssv679535,nssv660953,nssv656607,nssv686130,nssv685924,nssv685031,nssv686289,nssv677186,nssv683582 M 2026 0 12 DLG2 esv2617997 11 85012932 85014407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325799 S 1 0 1 DLG2 NA18507 essv22464 11 85020345 85281636 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC83,CCDC89,CREBZF,SYTL2,TMEM126A,TMEM126B NA12761 nsv468768 11 85072828 85114000 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543859 S 1557 0 1 CCDC89,SYTL2 1780862596_A esv2498116 11 85077004 85077277 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236420 S 1 0 1 "" NA18507 nsv832222 11 85083360 85281629 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449369 S 95 1 0 CCDC83,SYTL2 nsv898050 11 85084563 85176938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550616 S 6533 0 1 SYTL2 MS18487 esv1951703 11 85112319 85112751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592914 S 1 0 1 SYTL2 NA18507 essv21657 11 85114516 85150995 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SYTL2 NA12761 nsv417 11 85137935 85169285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5369 S 9 1 0 SYTL2 NA19129 nsv528829 11 85172917 85173940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705503 S 2026 0 1 SYTL2 nsv518426 11 85220130 85220524 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695861 S 2026 0 1 "" esv273203 11 85220583 85220705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580593,essv2579570 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268933 11 85220601 85220930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575970,essv2540966,essv2531916,essv2570419,essv2547306,essv2558294,essv2553906,essv2530643,essv2562062,essv2537280,essv2528619,essv2547923 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11830,NA11831,NA12006,NA12044,NA12717,NA12750,NA12763,NA12873,NA12874,NA12878,NA12891 esv1001399 11 85220614 85220614 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579529 S 3 1 0 "" HuRef nsv898051 11 85231705 85298471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566173 S 6533 0 1 CCDC83 IS30597 dgv1247n71 11 85256952 85312073 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898052,nsv898053 M 6533 0 3 CCDC83 IS30899,MS19634,MS21258 nsv418 11 85287777 85321470 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5370 S 9 1 0 CCDC83 NA19129 nsv898054 11 85361202 85450284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567031 S 6533 0 1 PICALM IS31041 nsv469975 11 85365857 85407020 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546202 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PICALM HGDP01365 dgv164n27 11 85365857 85435237 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468770,nsv468771 M 1557 0 2 PICALM HGDP00517,NINDS_147 nsv832223 11 85522963 85693605 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449370 S 95 0 1 C11orf73,EED dgv409e1 11 85547592 85583161 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24638,esv1122 M 271 0 0 "" NA10846 nsv8851 11 85566045 85577228 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20679 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 esv999880 11 85566286 85579955 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564087 S 3 0 1 "" HuRef dgv23e180 11 85566833 85576671 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988186,esv992965,esv999639 M 3 0 1 "" HuRef nsv514637 11 85567280 85576232 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628113 S 1414 0 1 "" esv2421379 11 85567306 85576469 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5078099,essv5073296,essv5014105,essv5148709,essv5086944,essv5147881,essv5127204,essv5006652,essv5039496,essv5040919,essv5059343,essv5115584,essv5139704,essv5010527,essv5040219,essv5048617 M 1184 0 16 "" NA06991,NA06993,NA10846,NA10853,NA11843,NA11994,NA12145,NA12249,NA12740,NA12751,NA12890,NA17982,NA19649,NA20512,NA20588,NA20589 nsv442624 11 85567306 85576469 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517382 11 85568037 85572099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674047,nssv657576,nssv684093,nssv700134,nssv651862,nssv668126 M 2026 0 6 "" nsv818853 11 85568037 85572099 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415991,nssv1418081,nssv1415990,nssv1418092 M 112 0 4 "" NA06991,NA06993,NA12740,NA12751 nsv898055 11 85646271 85678405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515607 S 6533 0 1 EED SP56224 nsv513328 11 85660186 85660778 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625718 S 1 1 0 EED 1 esv2542002 11 85660534 85661106 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252275 S 1 1 0 EED NA18507 esv1712509 11 85660765 85660765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199439 S 2 1 0 EED HuRef nsv508643 11 85666225 85725367 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618772 S 4 0 1 C11orf73,EED NA10860 nsv519914 11 85688437 85691009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697122 S 2026 0 1 C11orf73 nsv518588 11 85714603 85716734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694251 S 2026 0 1 C11orf73 esv2488187 11 85741896 85743714 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347294 S 1 0 1 "" NA18507 nsv898056 11 85834496 85982050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585739 S 6533 0 1 ME3 IS37639 nsv510265 11 85841579 85847579 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621275 S 4 0 1 ME3 NA15510 esv267584 11 85872958 85873290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576081,essv2523480,essv2531970,essv2570379,essv2550426,essv2519973,essv2533192,essv2563293 M 157 8 0 Samples from several populations that are part of the HapMap project. ME3 NA07051,NA10847,NA11830,NA12004,NA12006,NA12044,NA12234,NA12815 esv274960 11 85884678 85887204 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585139,essv2585815 M 1250 1 1 ME3 nsv528182 11 85912252 85936654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704734 S 2026 0 1 ME3 nsv522178 11 85960328 85963473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694951 S 2026 0 1 ME3 nsv471753 11 85963510 85964435 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646034 M 0.469 95 ME3 esv29418 11 85963617 85964394 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10076 S 451 0 11 ME3 NA12004,NA12044,NA18505,NA18508,NA18511,NA18517,NA19108,NA19114,NA19147,NA19225,NA19240 esv26643 11 85980916 85984169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16135,esv11399 M 451 0 7 ME3 NA11995,NA15510,NA18502,NA18909,NA18916,NA19225,NA19257 nsv8852 11 85981147 85984436 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20056,nssv20948,nssv22866,nssv23167,nssv20265,nssv19374,nssv19916,nssv18499 M 31 0 8 Samples from several populations that are part of the HapMap project. ME3 NA12155,NA18502,NA18537,NA18552,NA18572,NA18975,NA19007,NA19132 dgv231n67 11 85981316 85984501 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826022,nsv826016,nsv826012,nsv826014 M 31 0 4 ME3 AK20,AK4,NA18949,NA18999 dgv232n67 11 85981362 85983987 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826017,nsv826015,nsv826021,nsv826013,nsv826018,nsv826023 M 31 0 11 ME3 AK14,AK2,AK8,NA18526,NA18537,NA18552,NA18570,NA18592,NA18969,NA18973,NA18997 nsv471754 11 85981805 85984268 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646035 M 1.063 95 ME3 nsv826020 11 85981841 85983634 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436914 S 31 0 1 ME3 NA18542 esv4749 11 85981842 85984292 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27190 S 1 0 1 Single Asian sample YH ME3 YH nsv819492 11 85981860 85984707 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419483 S 2 0 1 ME3 AK1 nsv898057 11 85984049 86013107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557515 S 6533 0 1 ME3 MS22741 nsv522823 11 85995167 85999224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698472 S 2026 0 1 ME3 nsv520466 11 86022325 86024588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697437 S 2026 0 1 ME3 nsv428263 11 86035638 86186128 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452137,nssv452138,nssv452140,nssv452139,nssv452136 M 62 0 5 ME3 HGDP00450,HGDP00474,HGDP00476,NA19113,NA19181 esv2490690 11 86074507 86075420 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187449 S 1 1 0 "" NA18507 esv1125330 11 86075132 86075132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366678 S 2 1 0 "" HuRef nsv521505 11 86115763 86192720 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698122 S 2026 1 0 PRSS23 esv272144 11 86115884 86116254 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495550 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18916 esv1605649 11 86123459 86123543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651501 S 2 0 1 "" HuRef nsv468775 11 86131063 86158364 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543862 S 1557 0 1 "" 1780862469_A nsv523704 11 86186576 86206085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699512 S 2026 0 1 PRSS23 esv988093 11 86261083 86264911 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586441 S 3 1 0 "" HuRef nsv524804 11 86289944 86290230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700796 S 2026 0 1 "" esv27019 11 86301921 86302608 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15079 S 451 0 2 "" NA19114,NA19129 nsv419 11 86357621 86392521 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3972 S 9 1 0 LOC100506368 NA12878 esv21627 11 86431383 86434203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13345 S 451 0 1 TMEM135 NA18909 nsv898058 11 86432596 86566932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595934 S 6533 0 1 TMEM135 IS40368 nsv898059 11 86432596 86627017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594987 S 6533 0 1 TMEM135 IS40067 nsv468776 11 86466364 86504070 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543863 S 1557 0 1 TMEM135 NINDS_223 nsv898060 11 86499725 86590281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584041 S 6533 0 1 TMEM135 IS36787 nsv420 11 86522976 86567759 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8943 S 9 0 1 TMEM135 NA12156 dgv1248n71 11 86528131 86622630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898061,nsv898063 M 6533 0 2 TMEM135 IS33669,IS35181 nsv898062 11 86541925 86579727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513960 S 6533 0 1 TMEM135 SP55878 nsv898064 11 86541925 86691086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565816 S 6533 0 1 TMEM135 IS30522 nsv518332 11 86566932 86568725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695761 S 2026 0 1 TMEM135 nsv525787 11 86566932 86597826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701965 S 2026 0 1 TMEM135 nsv528940 11 86568725 86570513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705631 S 2026 0 1 TMEM135 dgv1249n71 11 86568725 86666782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898065,nsv898066 M 6533 0 3 TMEM135 IS31225,IS32015,MS10802 nsv898067 11 86570513 86613431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536095 S 6533 0 1 TMEM135 MS12624 nsv898068 11 86607918 86683617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567366 S 6533 0 1 TMEM135 IS31070 dgv1250n71 11 86610251 86666782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898069,nsv898070 M 6533 0 2 TMEM135 IS31233,IS31323 dgv1251n71 11 86640978 86691086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898071,nsv898072,nsv898073 M 6533 0 5 TMEM135 IS31330,IS32615,IS35145,IS36244,IS39784 nsv898074 11 86640978 86712344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591745,nssv1556632,nssv1555276,nssv1567972 M 6533 0 4 TMEM135 IS31179,IS39011,MS21252,MS22104 esv2631282 11 86641819 86643097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225983 S 1 0 1 TMEM135 NA18507 esv999908 11 86642322 86642373 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582761 S 3 0 1 TMEM135 HuRef esv1070532 11 86642336 86642388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291639 S 2 0 1 TMEM135 HuRef esv2429813 11 86696346 86697667 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367751 S 1 0 1 TMEM135 NA18507 nsv521810 11 86712344 86715328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694580 S 2026 0 1 TMEM135 nsv421 11 86724749 86739737 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3973 S 9 1 0 "" NA12878 esv269166 11 86827484 86827814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571783,essv2536619,essv2554950,essv2532331,essv2569836,essv2527185,essv2561738,essv2552973,essv2567788,essv2535836,essv2572404,essv2534095,essv2573065,essv2575364 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11920,NA12872,NA18505,NA18520,NA18522,NA18523,NA18542,NA18577,NA18608,NA18609,NA18916,NA18942,NA19102 nsv832224 11 86839769 87033571 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449371 S 95 1 0 "" esv2618780 11 86843656 86844575 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363027 S 1 1 0 "" NA18507 nsv513329 11 86843683 86844601 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625719 S 1 1 0 "" 1 nsv423 11 86885371 86930263 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8944 S 9 0 1 "" NA12156 nsv898075 11 86955722 87052767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535228,nssv1535405 M 6533 0 2 "" MS12088,MS12202 esv271192 11 86994534 86994644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513535,essv2495633,essv2506837,essv2497630 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA18916,NA19102,NA19147 nsv471755 11 87111053 87112872 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646036 M 0.021 95 "" nsv898076 11 87116245 87205209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579858 S 6533 0 1 "" IS35181 esv1477245 11 87143797 87143878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152955 S 2 0 1 "" HuRef nsv826024 11 87226504 87327786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439155 S 31 0 1 "" NA18973 esv2505022 11 87273114 87274451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326989 S 1 0 1 "" NA18507 esv2362354 11 87273680 87274013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839210 S 1 0 1 "" NA18507 dgv410e1 11 87287865 87304787 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7255,esv1242 M 271 0 0 "" NA18635 nsv424 11 87310077 87354860 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8945 S 9 0 1 "" NA12156 nsv898077 11 87312529 87380153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521896 S 6533 0 1 "" SP52627 nsv898078 11 87341770 87408953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562508 S 6533 0 1 "" MS25617 nsv517308 11 87356014 87356180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693849,nssv651668,nssv685032 M 2026 0 3 "" esv1119250 11 87365683 87365683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931699 S 2 1 0 "" HuRef dgv1252n71 11 87380153 87463969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898080,nsv898079 M 6533 0 3 "" IS36492,SP54083,SP56631 nsv39176 11 87425729 87425920 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57754 M 24 "" esv1675485 11 87426157 87426221 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093529 S 2 0 1 "" HuRef nsv527214 11 87500294 87512880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703614 S 2026 0 1 RAB38 esv8555 11 87517581 87519393 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30996 S 1 0 1 RAB38 SJK nsv898081 11 87534293 87538100 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503594 S 6533 1 0 RAB38 SP52077 esv275284 11 87535538 87538077 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585660,essv2585510 M 1250 1 1 RAB38 esv2497929 11 87557033 87558907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183421 S 1 0 1 "" NA18507 nsv512236 11 87557980 87560737 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624807 S 1 0 1 "" 1 esv1983262 11 87557997 87558717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882629 S 1 0 1 "" NA18507 esv3813 11 87558151 87558564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26254 S 1 0 1 Single Asian sample YH "" YH esv2437676 11 87561581 87563299 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182841 S 1 0 1 "" NA18507 esv22548 11 87561909 87562672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14403 S 451 0 5 "" NA07045,NA12006,NA12414,NA18916,NA19225 nsv818854 11 87586739 87587799 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416479 S 112 1 0 "" NA18516 esv275580 11 87603420 87604869 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585286 S 1250 0 1 "" nsv898082 11 87613239 87708971 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532724 S 6533 1 0 CTSC MS10818 dgv76n21 11 87620047 87624748 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526785,nsv518460 M 2026 0 2 "" nsv898083 11 87723287 87772298 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547881 S 6533 1 0 "" MS17609 dgv77n21 11 87826776 87838578 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523026,nsv528117 M 2026 0 2 "" esv21780 11 87875731 87876421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15787 S 451 0 1 "" NA19129 esv270366 11 87879749 87880099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509719,essv2501191,essv2493766,essv2494704,essv2506071,essv2498628,essv2507067,essv2495731,essv2510455,essv2493855 M 157 10 0 Samples from several populations that are part of the HapMap project. GRM5 NA18508,NA18516,NA18517,NA18519,NA18523,NA18858,NA18870,NA18916,NA19172,NA19210 nsv507606 11 87890799 87896799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620334 S 4 1 0 GRM5 NA15510 nsv510266 11 87914019 87920019 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621281 S 4 0 1 GRM5 NA15510 nsv425 11 87948177 87980011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5371 S 9 1 0 GRM5 NA19129 nsv526075 11 87965452 87977813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702316 S 2026 0 1 GRM5 nsv468780 11 87998871 88034912 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543864 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRM5 HGDP01355 nsv516008 11 88005956 88023261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665685,nssv669899,nssv656488,nssv668419,nssv683834,nssv659124,nssv682107,nssv660507,nssv670415 M 2026 0 9 GRM5 esv2751036 11 88013717 88020266 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985245,essv6985244 M 771 0 1 GRM5 SPC_13 esv274059 11 88019388 88019726 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581841,essv2582278,essv2583035 M 7 3 0 Samples from several populations that are part of the HapMap project. GRM5 NA12878,NA12891,NA12892 esv271657 11 88019392 88019728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565681,essv2521217,essv2545474,essv2535280,essv2552119,essv2520421,essv2537323,essv2528243,essv2546790,essv2550189,essv2552951,essv2540607,essv2534865,essv2529013,essv2541878,essv2563882,essv2548835 M 157 17 0 Samples from several populations that are part of the HapMap project. GRM5 NA07037,NA11829,NA11894,NA12003,NA12249,NA12489,NA12716,NA12878,NA12891,NA12892,NA18511,NA18542,NA18552,NA18561,NA18579,NA18592,NA18603 nsv38884 11 88038008 88041028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57462 M 24 GRM5 esv2608798 11 88059840 88060766 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249404 S 1 1 0 GRM5 NA18507 esv1705083 11 88060388 88060388 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704828 S 2 1 0 GRM5 HuRef dgv411e1 11 88083993 88339832 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15884,essv3060,essv11741,essv9089,essv22551,essv22167,essv8727,essv15199,essv15713,essv12306,essv24760,essv9253,essv13797,essv22243,essv4722,essv9376,essv4400,essv11643,essv142,essv9939,essv14364,essv3400,essv6246,essv20933,essv22896,essv13100,essv13873,essv23347,essv22652,essv19530,essv18278,essv11282,essv9677,essv18994,essv17526,esv290,essv5375,essv6609,essv3966 M 271 0 0 GRM5 NA07348,NA10846,NA10857,NA10860,NA12005,NA12044,NA12750,NA12752,NA12760,NA12762,NA12801,NA12864,NA18504,NA18563,NA18573,NA18620,NA18621,NA18636,NA18852,NA18853,NA18854,NA18912,NA18913,NA18945,NA18968,NA18970,NA18981,NA19092,NA19094,NA19128,NA19132,NA19138,NA19145,NA19153,NA19154,NA19194,NA19204,NA19223 nsv898084 11 88117210 88159225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504307 S 6533 0 1 GRM5 SP52409 dgv78n21 11 88173062 88173280 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527353,nsv518516 M 2026 2 0 GRM5 essv12691 11 88202448 88339832 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GRM5 NA18500 nsv8853 11 88254017 88304135 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22513,nssv18472,nssv23040,nssv18529,nssv20399,nssv22483,nssv19926,nssv20133,nssv19404,nssv21298,nssv20537,nssv20295,nssv20978,nssv18160,nssv20238,nssv18485,nssv19946,nssv19172,nssv23098,nssv23303,nssv20030,nssv20116,nssv22471 M 31 21 0 Samples from several populations that are part of the HapMap project. GRM5 NA07029,NA07048,NA10847,NA10863,NA12155,NA12802,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA19007,NA19144,NA19173,NA19240 esv22440 11 88260315 88304384 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10546 S 451 34 0 GRM5 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 esv33207 11 88299467 88312253 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98615 S 51 1 0 GRM5 22085 esv33258 11 88313134 88315539 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96801 S 51 0 1 GRM5 21659 esv32702 11 88314479 89105516 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98775,essv97488,essv94094,essv97035,essv99043,essv98653,essv98511 M 51 1 6 FOLH1B,GRM5,NOX4,TRIM77P,TYR 21606,21616,21802,21817,21938,22085,22352 dgv1253n71 11 88316502 88427192 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898086,nsv898085 M 6533 0 2 GRM5 IS33811,IS33839 nsv898087 11 88381308 88502788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513343 S 6533 0 1 GRM5 SP55747 nsv522236 11 88441929 88496430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695016 S 2026 0 1 "" nsv469976 11 88517851 88915814 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546204,nssv546203 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NOX4,TYR HGDP00664,HGDP00978 esv1406409 11 88529776 88529776 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969532 S 2 1 0 "" HuRef esv1586770 11 88529949 88529949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019945 S 2 1 0 "" HuRef esv270499 11 88548567 88548905 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565798,essv2575799,essv2540920,essv2571683,essv2546489,essv2521444,essv2525952,essv2536550,essv2543931,essv2570821,essv2556644,essv2531942,essv2577598,essv2548320,essv2550821,essv2525314,essv2544493,essv2552308,essv2547362,essv2529067,essv2558270,essv2564583,essv2577904,essv2553615,essv2559553,essv2565454,essv2520187,essv2564022,essv2555177,essv2561992,essv2530492,essv2540086,essv2556864,essv2552617,essv2551727,essv2538960,essv2523906,essv2552823,essv2541232,essv2542985,essv2540461,essv2524428,essv2565089,essv2534508,essv2561263,essv2539657,essv2549555,essv2519824,essv2531177,essv2532657,essv2528758,essv2567387,essv2541773,essv2570253,essv2563710,essv2553333,essv2535690,essv2572408,essv2559249,essv2527790,essv2562259,essv2578162,essv2573151,essv2555637,essv2566536,essv2574014,essv2527539,essv2556036,essv2522624,essv2531560,essv2543232,essv2577132,essv2572090,essv2525603,essv2529722,essv2575760,essv2526443,essv2524103,essv2551629,essv2536021,essv2537981,essv2533218,essv2554547,essv2525053,essv2563119,essv2557811 M 157 86 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA12006,NA12043,NA12045,NA12155,NA12156,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12874,NA18486,NA18489,NA18501,NA18502,NA18504,NA18519,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18907,NA18909,NA18940,NA18942,NA18945,NA18948,NA18951,NA18952,NA18956,NA18960,NA18961,NA18965,NA18970,NA18973,NA18980,NA19093,NA19099,NA19114,NA19129,NA19257 nsv468781 11 88552339 88911434 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543865 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NOX4,TYR HGDP00664 esv989571 11 88598932 88607847 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564954 S 3 0 1 TYR HuRef nsv39232 11 88602380 88603985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57810 M 24 TYR esv3450 11 88604103 88607660 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25891 S 1 0 1 Single Asian sample YH TYR YH esv27246 11 88604143 88607552 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15714 S 451 0 13 TYR NA07045,NA11995,NA12239,NA18502,NA18508,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19240,NA19257 esv996249 11 88604150 88607552 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586436 S 3 0 1 TYR HuRef dgv165n27 11 88660146 88739977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468784,nsv468782 M 1557 0 2 NOX4,TYR HGDP00043,HGDP00649 nsv898088 11 88796682 88936012 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562942 S 6533 1 0 NOX4 MS25782 esv1095170 11 88811618 88811667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247298 S 2 0 1 NOX4 HuRef esv269866 11 88836498 88836765 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501089,essv2513419,essv2495709,essv2509422,essv2498781,essv2512148,essv2497982,essv2502269 M 157 8 0 Samples from several populations that are part of the HapMap project. NOX4 NA18516,NA18907,NA18916,NA19129,NA19138,NA19238,NA19240,NA19257 esv272386 11 88836501 88836783 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579970,essv2580692,essv2579187,essv2579436 M 7 4 0 Samples from several populations that are part of the HapMap project. NOX4 NA12892,NA19238,NA19239,NA19240 esv267878 11 88847738 88848103 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495302,essv2512456,essv2495848,essv2503653 M 157 4 0 Samples from several populations that are part of the HapMap project. NOX4 NA06986,NA11992,NA12043,NA12489 nsv898089 11 88849633 88892745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583068,nssv1537303,nssv1594988 M 6533 0 3 NOX4 IS36244,IS40067,MS13154 nsv468785 11 88869079 89106380 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543869 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOLH1B,NOX4,TRIM77P HGDP00804 nsv898090 11 88871809 88936012 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558762 S 6533 0 1 NOX4 MS23531 dgv1254n71 11 88908159 89064854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898091,nsv898095,nsv898092,nsv898093 M 6533 0 5 FOLH1B,NOX4 IS34440,IS41909,MS19277,MS21189,MS22322 nsv898094 11 88925198 89509652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592683 S 6533 1 0 FOLH1B,LOC399939,LOC399940,NAALAD2,NOX4,TRIM49,TRIM49L1,TRIM49L2,TRIM53P,TRIM64,TRIM64B,TRIM77P,UBTFL1 IS39243 nsv898096 11 88975724 89059817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557434 S 6533 0 1 FOLH1B MS22677 dgv1255n71 11 88975724 89079879 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898097,nsv898098 M 6533 2 0 FOLH1B IS30352,MS25782 nsv527380 11 89044838 89079879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703813 S 2026 0 1 FOLH1B dgv412e1 11 89082686 89569836 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4388,esv687,essv4339 M 271 0 0 LOC399939,LOC399940,NAALAD2,TRIM49,TRIM49L1,TRIM49L2,TRIM53P,TRIM64,TRIM64B,TRIM77P,UBTFL1 NA18573,NA18622 nsv518785 11 89105700 89106380 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696239 S 2026 0 1 "" nsv8854 11 89110649 89112736 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20325 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv8855 11 89115895 89155290 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23359,nssv22895,nssv20709,nssv23195,nssv20355,nssv23331 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA12740,NA18502,NA18537,NA18972,NA19132 nsv508644 11 89132138 89185619 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622565 S 4 0 1 TRIM49 NA18994 esv25619 11 89135964 89146787 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12238 S 451 0 9 "" NA11894,NA11995,NA18508,NA18861,NA18907,NA18916,NA19099,NA19129,NA19257 nsv426 11 89162036 89196311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1025 S 9 1 0 TRIM49 NA19240 nsv826025 11 89171227 89224029 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426944 S 31 1 0 TRIM49,TRIM53P AK6 dgv233n67 11 89171427 89244396 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826026,nsv826028 M 31 2 0 LOC399940,TRIM49,TRIM53P,TRIM64B NA18969,NA18997 dgv1256n71 11 89176719 89300869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898099,nsv898100 M 6533 0 2 LOC399939,LOC399940,TRIM49,TRIM49L1,TRIM53P,TRIM64B IS31373,MS11675 dgv1257n71 11 89176719 89413900 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898102,nsv898101 M 6533 0 2 LOC399939,LOC399940,TRIM49,TRIM49L1,TRIM49L2,TRIM53P,TRIM64,TRIM64B MS15502,SP51314 nsv832225 11 89181351 89440838 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449372,nssv1449376,nssv1449374,nssv1449375 M 95 4 0 LOC399939,LOC399940,TRIM49,TRIM49L1,TRIM49L2,TRIM53P,TRIM64,TRIM64B esv33414 11 89182847 89223857 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97564 S 51 0 1 TRIM53P 21616 nsv8856 11 89184243 89190407 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20146,nssv18515,nssv21328,nssv18502,nssv23223,nssv19956,nssv20268,nssv23126,nssv20567,nssv20163,nssv20769,nssv20459,nssv20194,nssv18559,nssv22501,nssv21008,nssv20060,nssv19464 M 31 18 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18975,NA19132,NA19144,NA19173,NA19240 nsv7222 11 89184594 89452604 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1026,nssv6473,nssv1948,nssv9273,nssv1949,nssv3976,nssv3975,nssv6472 M 9 0 0 LOC399939,LOC399940,TRIM49L1,TRIM49L2,TRIM53P,TRIM64,TRIM64B NA12156,NA12878,NA18517,NA18555,NA19240 esv24636 11 89184660 89189561 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15827 S 451 8 0 "" NA11995,NA12414,NA12776,NA18505,NA18517,NA18861,NA18907,NA19147 nsv826027 11 89184916 89189437 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425218,nssv1423654,nssv1427724,nssv1432314 M 31 4 0 "" AK2,AK20,AK8,NA18999 nsv469862 11 89207822 89372535 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649883 M 265 0 0 Samples from several populations that are part of the HapMap project. LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64,TRIM64B essv22404 11 89207823 89372535 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64,TRIM64B NA10861 nsv8858 11 89214753 89375381 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20947,nssv21038,nssv23154,nssv23473,nssv18545,nssv22924,nssv20829,nssv18532,nssv20193,nssv19494,nssv20977,nssv23417,nssv18575,nssv20223,nssv19524,nssv20385,nssv23501,nssv20799,nssv18589,nssv23445,nssv19986,nssv18562,nssv20445,nssv23833,nssv20016 M 31 1 13 Samples from several populations that are part of the HapMap project. LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64,TRIM64B NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA18502,NA18517,NA18537,NA18572,NA18860,NA18942,NA18972,NA18975 dgv1258n71 11 89217545 89362241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898115,nsv898114,nsv898116,nsv898103,nsv898106 M 6533 0 7 LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64,TRIM64B IS30365,IS33830,IS41317,MS11693,MS14433,MS16376,MS16621 dgv1259n71 11 89222867 89260628 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898109,nsv898110,nsv898107,nsv898108,nsv898104 M 6533 0 12 LOC399940,TRIM53P,TRIM64B IS30593,IS35973,IS36656,MS10105,MS16707,MS17755,MS19140,MS19677,MS20503,MS20718,SP50850,SP55548 dgv1260n71 11 89222867 89300869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898113,nsv898105,nsv898112 M 6533 0 19 LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64B IS30146,IS35670,IS36396,IS37853,IS38600,IS40319,MS10126,MS11300,MS13774,MS15682,MS17319,MS18740,MS21036,MS21732,MS22297,MS22393,MS23008,MS24173,MS24223 nsv508645 11 89231790 89292239 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618774 S 4 0 1 LOC399939,LOC399940,TRIM49L1,TRIM64B NA10860 nsv898111 11 89232539 89273004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548248 S 6533 0 1 LOC399940,TRIM64B MS17773 dgv1261n71 11 89232539 89389893 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898124,nsv898117,nsv898128 M 6533 0 3 LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64,TRIM64B MS10121,MS11467,MS21558 nsv898118 11 89232539 89538451 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501463 S 6533 1 0 LOC399939,LOC399940,NAALAD2,TRIM49L1,TRIM49L2,TRIM53P,TRIM64,TRIM64B,UBTFL1 SP51030 esv25481 11 89249646 89257073 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13545 S 451 0 1 "" NA18909 dgv1262n71 11 89251435 89260302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898120,nsv898119 M 6533 0 4 "" IS33439,IS39678,IS40702,MS12597 dgv1263n71 11 89254630 89300869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898121,nsv898126 M 6533 0 2 LOC399939,TRIM49L1 IS35111,IS37456 dgv1264n71 11 89258422 89273004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898127,nsv898122,nsv898123,nsv898125 M 6533 0 7 "" IS34811,IS37480,IS41919,MS11550,MS12606,MS15340,MS15397 nsv898129 11 89259788 89273004 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599666,nssv1586303,nssv1533887,nssv1527369,nssv1590245,nssv1596661,nssv1525329,nssv1590933,nssv1551960,nssv1588085,nssv1560699,nssv1600335,nssv1599626,nssv1521337,nssv1576556,nssv1558911,nssv1538899,nssv1524180,nssv1590986,nssv1577947,nssv1522687,nssv1595976,nssv1599993,nssv1594660,nssv1527742,nssv1523780,nssv1578299,nssv1552114,nssv1527217,nssv1523577,nssv1563017,nssv1527898,nssv1520174,nssv1527623,nssv1525048,nssv1524194,nssv1531148,nssv1564596,nssv1597051,nssv1528986,nssv1594547,nssv1597139,nssv1537774 M 6533 13 30 "" IS30245,IS34124,IS34612,IS34750,IS37734,IS38152,IS38475,IS38604,IS38616,IS39929,IS39991,IS40374,IS40603,IS40728,IS40744,IS41737,IS41758,IS41826,IS41870,MS10351,MS11326,MS13360,MS13808,MS19039,MS19184,MS23626,MS24662,MS25814,SP50721,SP52349,SP53344,SP54099,SP54191,SP54894,SP54905,SP55470,SP56418,SP58241,SP58387,SP58575,SP80961,SP81064,SP81412 nsv898130 11 89259788 89296129 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534389,nssv1535238,nssv1519871,nssv1562195 M 6533 2 2 LOC399939,TRIM49L1 MS11558,MS12092,MS25432,SP50592 dgv1265n71 11 89259788 89362241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898131,nsv898132 M 6533 0 2 LOC399939,LOC399940,TRIM49L1,TRIM64 IS36065,MS10843 esv23300 11 89260012 89273721 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18871,esv13726 M 451 2 15 "" NA06985,NA07037,NA11894,NA11931,NA11995,NA12006,NA12044,NA12239,NA12414,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18916,NA19099 nsv898133 11 89262616 89452994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512514 S 6533 0 1 LOC399939,LOC399940,TRIM49L1,TRIM49L2,TRIM53P,TRIM64 SP55548 nsv819015 11 89269297 89401565 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418783 S 2 0 1 LOC399939,LOC399940,TRIM49L1,TRIM53P,TRIM64 AK1 dgv1266n71 11 89273004 89362241 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898135,nsv898134 M 6533 2 0 LOC399939,LOC399940,TRIM49L1,TRIM64 MS12003,MS15511 esv1106268 11 89282125 89282125 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160849 S 2 1 0 "" HuRef nsv508646 11 89297864 89358350 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617389,nssv619973,nssv622571 M 4 0 3 LOC399939,LOC399940,TRIM49L1,TRIM64 CHM,NA15510,NA18994 esv1691542 11 89308248 89308248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737065 S 2 1 0 "" HuRef esv23430 11 89316403 89330021 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14586,esv18574,esv17110 M 451 2 12 "" NA07037,NA11894,NA11995,NA12044,NA12239,NA12414,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18916,NA19099 nsv898136 11 89318458 89407632 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558860 S 6533 1 0 LOC399940,TRIM49L2,TRIM53P,TRIM64 MS23582 nsv898137 11 89318458 89425312 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584198,nssv1547375 M 6533 1 1 LOC399940,TRIM49L2,TRIM53P,TRIM64 IS36899,MS17359 nsv898138 11 89318458 89461753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578542 S 6533 1 0 LOC399940,TRIM49L2,TRIM53P,TRIM64,UBTFL1 IS34804 nsv511465 11 89320939 89332386 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626080 S 1 1 0 "" 1 esv24473 11 89332812 89340513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19782 S 451 0 1 "" NA18909 nsv508647 11 89374265 89453460 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617390 S 4 0 1 TRIM49L2,TRIM53P CHM nsv898139 11 89413900 89561312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534156 S 6533 0 1 NAALAD2,TRIM49L2,UBTFL1 MS11467 nsv8859 11 89427192 89482328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23529,nssv23251,nssv20597,nssv20859,nssv20475,nssv18190 M 31 0 6 Samples from several populations that are part of the HapMap project. UBTFL1 NA12740,NA12802,NA18537,NA18563,NA18972,NA19132 esv26114 11 89439383 89449662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10493,esv17212 M 451 0 8 "" NA07045,NA11894,NA11995,NA18508,NA18861,NA18907,NA19129,NA19225 nsv898140 11 89461753 89509652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518567 S 6533 0 1 NAALAD2 SP57741 esv22284 11 89490994 89493451 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20050 S 451 0 1 "" NA18916 nsv898141 11 89526045 89561312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514455,nssv1518169 M 6533 0 2 NAALAD2 SP56004,SP57469 esv1511526 11 89532790 89532790 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683804 S 2 1 0 NAALAD2 HuRef nsv898142 11 89535588 89615125 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535538 S 6533 1 0 CHORDC1,NAALAD2 MS12265 nsv468787 11 89541802 89593029 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543870 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHORDC1,NAALAD2 HGDP01365 esv272147 11 89564087 89564435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504241,essv2505200 M 157 2 0 Samples from several populations that are part of the HapMap project. NAALAD2 NA18505,NA18853 esv3488 11 89572086 89572560 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25929 S 1 0 1 Single Asian sample YH "" YH esv8788 11 89572144 89572571 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31229 S 1 0 1 "" SJK esv1007133 11 89572162 89572500 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568697 S 3 0 1 "" HuRef nsv898143 11 89605850 89709751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575941 S 6533 0 1 "" IS33839 nsv898144 11 89615747 89686791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564597 S 6533 0 1 "" IS30245 nsv427 11 89630599 89635319 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1950 S 9 1 0 "" NA18555 nsv519936 11 89634463 89637444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659556,nssv691249,nssv690884 M 2026 0 3 "" esv1334387 11 89640153 89640153 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871459 S 2 1 0 "" HuRef esv5366 11 89643720 89644206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27807 S 1 0 1 Single Asian sample YH "" YH nsv818856 11 89657936 89689801 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417678 S 112 1 0 "" NA18994 nsv898145 11 89689801 89831556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598353,nssv1569338,nssv1572083,nssv1595596,nssv1571690,nssv1565428,nssv1585286,nssv1594271,nssv1566080,nssv1587352,nssv1535635 M 6533 0 11 "" IS30413,IS30589,IS31563,IS32777,IS32864,IS37404,IS38015,IS39750,IS40280,IS41009,MS12345 dgv1267n71 11 89745017 89865187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898146,nsv898147 M 6533 0 2 "" SP52872,SP54434 nsv898148 11 89815076 89858790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570441 S 6533 0 1 "" IS32006 nsv818857 11 89831556 89847652 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417920 S 112 1 0 "" NA18852 nsv468788 11 89831573 89874972 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543871 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00966 esv4120 11 89833278 89835759 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26561 S 1 0 1 Single Asian sample YH "" YH esv8934 11 89833356 89835644 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31375 S 1 0 1 "" SJK esv21972 11 89833378 89835799 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18212 S 451 0 5 "" NA07045,NA12414,NA15510,NA18505,NA18517 dgv1268n71 11 89836653 90011495 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898152,nsv898149 M 6533 0 3 MIR4490 IS30522,IS31554,IS39011 nsv898150 11 89853120 89888854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522076 S 6533 0 1 "" SP52721 nsv898151 11 89853120 89922680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577906 S 6533 0 1 "" IS34599 nsv898153 11 89874972 89981859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580228 S 6533 0 1 MIR4490 IS35244 nsv898154 11 89950000 90011495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574443 S 6533 0 1 "" IS33566 nsv428 11 89984971 90015007 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1027 S 9 1 0 "" NA19240 nsv898155 11 90029513 90132607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522632 S 6533 0 1 "" SP53293 nsv510267 11 90047070 90053070 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618348 S 4 0 1 "" CHM esv272866 11 90078148 90078484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580077,essv2580385 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv521151 11 90109466 90233847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702178,nssv683100,nssv693510 M 2026 0 3 "" esv268317 11 90170336 90170624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540837,essv2576385,essv2561506,essv2568562,essv2551565,essv2533141 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11831,NA12814,NA18523,NA19147,NA19257 esv2505197 11 90180775 90182393 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390796 S 1 0 1 "" NA18507 nsv826029 11 90196015 90263727 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439156 S 31 0 1 "" NA18973 nsv898156 11 90203569 90310273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566945 S 6533 0 1 "" IS31021 esv2421664 11 90206161 90210686 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112636,essv5116720,essv5158962,essv5085074,essv5127245,essv5055503,essv5159634,essv5088128,essv5007892,essv5078412,essv5018810,essv5042239,essv5109994,essv5028208,essv5122765,essv5097771,essv5011560,essv5057413,essv5038309,essv5153109,essv5118242,essv5106832,essv5039309,essv5012902,essv5028249,essv5149130,essv5027859,essv5002778,essv5039812,essv5125911,essv5062886,essv5107363,essv5158205,essv5031438,essv5120113,essv5068375,essv5017833,essv5092795,essv5015608,essv5044789,essv5122583,essv5100219,essv5069819,essv5101679,essv5129800,essv5071404,essv5044880,essv5145136,essv5141001,essv5073658,essv5134112,essv5042635,essv5126510,essv5011862,essv5117193,essv5038978,essv5047458,essv5087687,essv5153534,essv5119029,essv5072241,essv5153506,essv5044844,essv5003827,essv5071902,essv5145991,essv5107273,essv5147004,essv5116757,essv5056776,essv5101444,essv5104603,essv5134068,essv5064828,essv5042762,essv5012442,essv5029960,essv5037191,essv5013124,essv5092442,essv5148024,essv5143214,essv5134084,essv5092615,essv5145860,essv5036028,essv5115702,essv5094497,essv5142383,essv5050656,essv5016043,essv5005744,essv5156298,essv5023495,essv5035846,essv5159828,essv5160145,essv5091488,essv5030333,essv5008461,essv5156184,essv5134528,essv5120528,essv5003794,essv5014226,essv5032903,essv5034420,essv5069134,essv5125038,essv5033723,essv5097850,essv5053850,essv5109267,essv5037779,essv5034358,essv5157334,essv5161203,essv5125313,essv5051537,essv5080149,essv5110397,essv5036184,essv5087313,essv5077062,essv5103772,essv5154690,essv5113382,essv5071330,essv5124014,essv5032265,essv5075538,essv5158598,essv5072209,essv5158144,essv5143794,essv5008574,essv5115394,essv5030272,essv5095175,essv5056601,essv5122966,essv5050321,essv5102045,essv5004707,essv5143564,essv5045824,essv5006921,essv5086315,essv5085109,essv5023454,essv5025514,essv5127756,essv5051692,essv5159651,essv5042294,essv5063004,essv5003828,essv5122794,essv5038747,essv5130411,essv5051213,essv5122987,essv5066580,essv5092765,essv5040572,essv5051492,essv5087430,essv5152624,essv5114624,essv5027920,essv5110309,essv5004890,essv5013448,essv5161040,essv5029578,essv5159758,essv5133013,essv5093526,essv5050355,essv5014171,essv5033325,essv5094793,essv5129186,essv5116835,essv5120889,essv5043527,essv5017023,essv5064021,essv5087689,essv5124835,essv5053587,essv5105535,essv5138494,essv5038485,essv5103446,essv5059960,essv5091506,essv5132035,essv5098633,essv5049291,essv5107921,essv5152036,essv5158281,essv5126123,essv5036942,essv5048849,essv5098337,essv5027917,essv5032793,essv5119793,essv5083657,essv5142308,essv5032530,essv5082956,essv5092488,essv5089821,essv5152195,essv5148532,essv5014728,essv5005351,essv5123437,essv5078553,essv5087017,essv5043982,essv5010395,essv5057796,essv5149120,essv5106897,essv5054844,essv5042120,essv5007912,essv5079662,essv5113647,essv5014117,essv5104623,essv5153213,essv5083561,essv5065669,essv5017943,essv5092412,essv5150850,essv5042968,essv5114496,essv5013327,essv5044601,essv5094327,essv5046289,essv5072020,essv5137825,essv5154169,essv5153673,essv5068666,essv5009910,essv5108120,essv5083796,essv5072966,essv5044570,essv5074289,essv5150592,essv5099540,essv5014178,essv5042151 M 1184 0 262 "" NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18515,NA18516,NA18517,NA18853,NA18854,NA18855,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18874,NA18875,NA18909,NA18912,NA18924,NA18925,NA18934,NA18935,NA19028,NA19035,NA19036,NA19044,NA19093,NA19114,NA19115,NA19116,NA19117,NA19122,NA19123,NA19128,NA19130,NA19131,NA19132,NA19137,NA19144,NA19152,NA19154,NA19160,NA19161,NA19172,NA19173,NA19175,NA19178,NA19179,NA19180,NA19182,NA19183,NA19186,NA19192,NA19194,NA19197,NA19201,NA19203,NA19206,NA19207,NA19208,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19223,NA19224,NA19226,NA19235,NA19238,NA19240,NA19247,NA19248,NA19249,NA19256,NA19307,NA19308,NA19310,NA19313,NA19315,NA19316,NA19317,NA19328,NA19334,NA19346,NA19347,NA19352,NA19359,NA19372,NA19374,NA19375,NA19376,NA19377,NA19382,NA19383,NA19384,NA19385,NA19390,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19435,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19455,NA19457,NA19462,NA19463,NA19466,NA19468,NA19469,NA19470,NA19472,NA19473,NA19676,NA19677,NA19701,NA19704,NA19705,NA19711,NA19712,NA19713,NA19818,NA19901,NA19902,NA19904,NA19917,NA19918,NA19921,NA19983,NA20126,NA20127,NA20128,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20335,NA20340,NA20342,NA20343,NA20345,NA20346,NA20347,NA20348,NA20356,NA20357,NA20358,NA20360,NA20363,NA21295,NA21300,NA21302,NA21303,NA21309,NA21312,NA21316,NA21317,NA21318,NA21339,NA21352,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21367,NA21368,NA21378,NA21382,NA21383,NA21414,NA21415,NA21418,NA21421,NA21423,NA21424,NA21435,NA21438,NA21440,NA21441,NA21453,NA21454,NA21455,NA21473,NA21476,NA21477,NA21478,NA21480,NA21486,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21512,NA21514,NA21519,NA21522,NA21525,NA21528,NA21529,NA21573,NA21574,NA21576,NA21587,NA21597,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21685,NA21689,NA21717,NA21723,NA21738,NA21739,NA21825,NA21826 esv2567998 11 90207219 90211536 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250644 S 1 0 1 "" NA18507 esv2106154 11 90207552 90210908 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751745 S 1 0 1 "" NA18507 esv23063 11 90207765 90210714 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14267 S 451 0 8 "" NA18505,NA18508,NA18517,NA18523,NA18907,NA18909,NA19114,NA19240 nsv442625 11 90207835 90210585 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514638 11 90208032 90210440 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628115 S 1414 0 1 "" esv2496133 11 90208461 90210461 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354376 S 1 0 1 "" NA18507 dgv413e1 11 90247849 90559703 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16196,esv330 M 271 0 0 "" NA19161 nsv38725 11 90298432 90299335 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57303 M 24 "" nsv429 11 90309378 90316877 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8946 S 9 0 1 "" NA12156 esv1168028 11 90313569 90313569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276220 S 2 1 0 "" HuRef nsv468789 11 90329125 90403760 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543872 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00076 nsv469978 11 90329125 90403760 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546205 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00076 nsv507607 11 90350735 90356735 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619051,nssv617817,nssv620344,nssv623001 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv898157 11 90380642 90537776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578031 S 6533 0 1 "" IS34645 nsv525587 11 90394576 90403760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701726 S 2026 0 1 "" nsv520471 11 90395143 90403760 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697687,nssv671698,nssv672303 M 2026 2 1 "" esv1306755 11 90417040 90417040 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001718 S 2 1 0 "" HuRef nsv898158 11 90423679 90630533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597874 S 6533 0 1 "" IS41292 dgv414e1 11 90424582 90559703 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3309,essv22533,essv9621,essv15860,essv1833,essv22668,essv300,essv1494,essv10483,essv6633,essv19658,essv12470,essv11816,essv14896,essv18202,essv1032,essv1782,essv9123,essv2486,essv4581,essv22085,essv1186,essv3177,essv10228,essv23492,essv18386,essv11865,essv14608,essv15212,essv22525,essv22182,essv12255,essv18637,essv13163,essv8288,essv12418,essv24801,essv9993,essv5935,essv12847,essv17445,essv21394,essv13600,essv22949,essv15068,essv10111,essv15545,essv5470,essv23981,essv15678,essv24235,essv17543,essv14190,essv20393,essv10516,essv8829,essv11027,essv23225,essv10285,essv10786,essv8234,essv16729,essv24368,essv8758,essv2974,essv4446,essv22118,essv11456,essv23667,essv19603,essv17033,essv9204,essv248,essv18429,essv24069,essv13804,essv14265,essv11752,essv13664,essv14716,essv1342,essv3998,essv7835,essv12338,essv15364,essv9901,essv19419,essv4637,essv5256,essv23782,essv1223,essv6226,essv13420,essv9440,essv20960,essv13057,essv11669,essv9372,essv17668,essv23016,essv13893,essv16861,essv10642,essv23339,essv17305,essv16136,essv24591,essv8354,essv17809,essv19985,essv24984,essv20996,essv19938,essv15392,essv13027,essv14573,essv23888,essv22900,essv7717,essv5753,essv10429,essv18116,essv21130,essv3217,essv9766,essv21819,essv8464,essv17100,essv19567,essv22332,essv10883,essv8650,essv16776,essv8961,essv18828,essv23559,essv14416,essv7300,essv17169,essv24932,essv22772,essv15795,essv10950,essv23608,essv20336,essv1422,essv22398,essv21344,essv2183,essv6970,essv21284,essv5179,essv21440,essv12629,essv16085,essv16409,essv2630,essv19000,essv1971,essv21219,essv13544,essv11940,essv20593,essv1127,essv15515,essv17227,essv3536,essv2296,essv9055,essv12550,essv407,essv5140,essv11157,essv8155,essv20663,essv146,essv20130,essv23440,essv9729 M 271 0 0 "" NA06985,NA06991,NA06993,NA06994,NA07019,NA07029,NA07034,NA07048,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10839,NA10854,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA11830,NA11831,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA12005,NA12006,NA12043,NA12044,NA12057,NA12154,NA12155,NA12234,NA12236,NA12249,NA12264,NA12707,NA12716,NA12717,NA12740,NA12750,NA12751,NA12752,NA12760,NA12762,NA12763,NA12801,NA12812,NA12813,NA12814,NA12815,NA12864,NA12875,NA12878,NA12892,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18508,NA18515,NA18516,NA18521,NA18522,NA18523,NA18524,NA18550,NA18552,NA18558,NA18564,NA18582,NA18592,NA18593,NA18594,NA18611,NA18621,NA18624,NA18632,NA18633,NA18636,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18871,NA18872,NA18912,NA18913,NA18944,NA18948,NA18951,NA18959,NA18960,NA18964,NA18965,NA18966,NA18967,NA18968,NA18970,NA18971,NA18972,NA18974,NA18976,NA18978,NA18980,NA18981,NA18995,NA18997,NA18999,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19171,NA19172,NA19192,NA19194,NA19200,NA19201,NA19202,NA19203,NA19205,NA19206,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239,NA19240 nsv428264 11 90424582 90559703 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452190,nssv452178,nssv452193,nssv452187,nssv452191,nssv452194,nssv452196,nssv452201,nssv452183,nssv452184,nssv452204,nssv452181,nssv452198,nssv452180,nssv452182,nssv452192,nssv452203,nssv452179,nssv452202,nssv452200,nssv452189,nssv452185,nssv452195,nssv452199,nssv452188 M 62 25 0 "" HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01094,NA18498,NA19096,NA19108,NA19113,NA19147,NA19189,NA19225,NA19257 esv1110227 11 90429000 90429000 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329129 S 2 1 0 "" HuRef nsv8860 11 90450345 90452608 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23860 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv510268 11 90496612 90502612 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621287,nssv624028,nssv618349,nssv622096 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 dgv1269n71 11 90508705 90608806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898159,nsv898160 M 6533 0 2 "" IS33519,IS35107 esv1399472 11 90519999 90519999 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245971 S 2 1 0 "" HuRef esv1587026 11 90520042 90520042 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880189 S 2 1 0 "" HuRef dgv1270n71 11 90523987 90673645 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898161,nsv898162 M 6533 0 2 "" IS31205,IS34565 esv267877 11 90531664 90531793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510666,essv2513537 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18907 nsv8861 11 90533689 90538364 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25386 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv8862 11 90541777 90552972 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20889 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv442237 11 90545908 90552634 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514639 11 90545928 90552624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628116 S 1414 0 1 "" nsv898163 11 90559654 90646023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541185 S 6533 0 1 "" MS15199 nsv898164 11 90573905 90630533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534578 S 6533 0 1 "" MS11669 esv1366145 11 90587918 90587918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589618 S 2 1 0 "" HuRef nsv430 11 90589129 90620325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3977 S 9 1 0 "" NA12878 esv274398 11 90590334 90590644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580600,essv2579389 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269953 11 90590392 90590588 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505983,essv2512145,essv2498204 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19238,NA19240 dgv166n27 11 90595620 90638244 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468791,nsv468790 M 1557 0 2 "" 1780854459_A,1780862310_A dgv1271n71 11 90595620 90673645 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898165,nsv898166 M 6533 0 2 "" IS33545,IS35572 dgv1272n71 11 90595620 90711068 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898169,nsv898171,nsv898170,nsv898167,nsv898168 M 6533 0 14 "" IS38176,MS13757,MS14872,MS16667,MS19587,MS21340,MS23332,MS24329,MS24330,MS24752,SP50094,SP50761,SP50921,SP57010 esv34891 11 90605700 90686800 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988217,essv6979679,essv6979680 M 771 0 1 "" NA18605 nsv468792 11 90605720 90698546 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543875 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01182 nsv469979 11 90605720 90698546 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546206 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01182 dgv415e1 11 90605720 90702192 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5669,esv1348 M 271 0 0 "" NA18605 esv2170271 11 90632537 90632974 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587252 S 1 0 1 "" NA18507 esv1005501 11 90651345 90657900 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563990 S 3 1 0 "" HuRef esv1752529 11 90775020 90775020 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101097 S 2 1 0 "" HuRef esv1697738 11 90793252 90793252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139036 S 2 1 0 "" HuRef nsv39438 11 90793253 90793555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58016 M 24 "" esv267819 11 90840955 90841040 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514837,essv2513657 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12234 nsv832227 11 90894766 91041730 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449377 S 95 1 0 "" nsv898172 11 90895599 91100836 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517976 S 6533 0 1 "" SP57418 nsv898173 11 90895599 93473871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523952 S 6533 0 1 C11orf54,C11orf75,CCDC67,FAT3,HEPHL1,KIAA1731,MED17,MIR1304,MTNR1B,SCARNA9,SLC36A4,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D,VSTM5 SP54295 nsv832228 11 90963077 91143052 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449378 S 95 1 0 "" esv2578926 11 91009679 91011735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235655 S 1 0 1 "" NA18507 esv26743 11 91009684 91011226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10345,esv10355 M 451 0 10 "" NA12239,NA12287,NA12414,NA12749,NA18502,NA18861,NA18907,NA18909,NA19108,NA19240 nsv826032 11 91010180 91011357 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439887 S 31 0 1 "" NA18537 esv272369 11 91386127 91386212 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581445 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv898174 11 91397367 91567973 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548376 S 6533 0 1 "" MS17820 esv2391639 11 91420817 91421229 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851742 S 1 0 1 "" NA18507 nsv826033 11 91454976 91466838 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433884 S 31 0 1 "" NA18526 nsv526705 11 91455249 91466486 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703044 S 2026 0 1 "" dgv416e1 11 91456251 91464123 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5656,esv1273 M 271 0 0 "" NA18526 nsv832229 11 91524084 91714472 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449382,nssv1449388,nssv1449381,nssv1449387,nssv1449383,nssv1449386,nssv1449385,nssv1449389,nssv1449380,nssv1449379 M 95 10 0 "" nsv832230 11 91592290 91751994 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449390 S 95 1 0 FAT3 nsv39076 11 91602338 91605442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57654 M 24 "" esv271053 11 91641845 91642337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510583,essv2501329 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA19093 nsv510269 11 91669574 91675574 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622099 S 4 0 1 "" NA10860 nsv431 11 91676806 91711312 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5372,nssv8947,nssv1028 M 9 3 0 "" NA12156,NA19129,NA19240 nsv509437 11 91683109 91733234 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620858,nssv619424 M 4 2 0 FAT3 NA10860,NA15510 esv1934438 11 91692006 91692404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678373 S 1 0 1 "" NA18507 esv1007467 11 91702553 91702672 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565772 S 3 1 0 "" HuRef esv1282231 11 91785582 91785582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074597 S 2 1 0 FAT3 HuRef esv2500510 11 91885126 91886580 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205179 S 1 0 1 FAT3 NA18507 esv2148422 11 91885457 91886132 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510287 S 1 0 1 FAT3 NA18507 nsv38845 11 91885646 91885949 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57423 M 24 FAT3 esv2493372 11 91885647 91885950 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376729 S 1 0 1 FAT3 NA18507 esv7974 11 91885653 91885945 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30415 S 1 0 1 FAT3 SJK nsv832231 11 91951621 92106438 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449391 S 95 1 0 FAT3 nsv521791 11 91958746 91960478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694561 S 2026 0 1 FAT3 nsv432 11 92002665 92036447 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3978 S 9 1 0 FAT3 NA12878 esv1073574 11 92078435 92078435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731104 S 2 1 0 FAT3 HuRef esv1024754 11 92078445 92078445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069683 S 2 1 0 FAT3 HuRef esv1228564 11 92078458 92078458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343884 S 2 1 0 FAT3 HuRef esv5400 11 92078568 92078701 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27841 S 1 0 0 Single Asian sample YH FAT3 YH esv269004 11 92248097 92248438 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514603,essv2516718,essv2519227,essv2517417,essv2518686,essv2514799,essv2515150,essv2516424,essv2515785,essv2517908,essv2514469,essv2517560,essv2516170,essv2516846,essv2515819,essv2519030,essv2513862,essv2515192,essv2518869,essv2518215,essv2513687 M 157 21 0 Samples from several populations that are part of the HapMap project. FAT3 NA07347,NA11840,NA11881,NA11894,NA11918,NA12045,NA12234,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA12891,NA12892,NA18969,NA19141,NA19143,NA19238,NA19239,NA19240 esv272909 11 92248104 92248435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582160,essv2582740,essv2582952,essv2583892,essv2584658,essv2583686 M 7 6 0 Samples from several populations that are part of the HapMap project. FAT3 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1007859 11 92248124 92248124 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567294 S 3 1 0 FAT3 HuRef esv1420122 11 92248139 92248139 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227236 S 2 1 0 FAT3 HuRef nsv898175 11 92262997 92308474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598603 S 6533 0 1 FAT3 IS40902 nsv434 11 92275040 92308347 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8948 S 9 1 0 "" NA12156 esv28204 11 92344128 92347240 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10103 S 451 1 0 MTNR1B NA18505 nsv442239 11 92344805 92346836 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MTNR1B nsv820151 11 92357931 92378443 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418685 S 2 0 1 "" AK1 esv1001989 11 92370006 92374118 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565541 S 3 1 0 "" HuRef nsv507608 11 92372556 92378556 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623010 S 4 1 0 "" NA18994 nsv526546 11 92381834 92490826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702860 S 2026 1 0 "" nsv525304 11 92469552 92517181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701410 S 2026 0 1 "" nsv435 11 92493414 92527541 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1951,nssv3979,nssv6474 M 9 0 3 SLC36A4 NA12156,NA12878,NA18555 nsv510593 11 92504909 92521692 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618618 S 4 0 0 SLC36A4 CHM esv999138 11 92508155 92515671 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565682 S 3 0 1 "" HuRef esv2503353 11 92508645 92516153 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296103 S 1 0 1 "" NA18507 nsv512237 11 92509364 92515579 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624808 S 1 0 1 "" 1 esv3011 11 92509384 92515553 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25452 S 1 0 1 Single Asian sample YH "" YH esv1333183 11 92509434 92515498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163036 S 2 0 1 "" HuRef dgv13n47 11 92509434 92515517 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498763,nsv498764 M 9 0 2 "" esv9324 11 92509444 92515519 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31765 S 1 0 1 "" SJK dgv1273n71 11 92517181 92611522 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898179,nsv898177,nsv898176,nsv898178 M 6533 0 7 SLC36A4 IS34830,IS35018,IS41881,IS41889,MS19630,MS20630,MS21325 nsv818858 11 92537990 92571877 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416263 S 112 0 1 SLC36A4 NA12056 dgv417e1 11 92537990 92573785 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18692,esv1386 M 271 0 0 SLC36A4 NA12056 esv33564 11 92558248 92576193 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100391 S 51 0 1 SLC36A4 22300 nsv436 11 92606648 92625322 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10832 S 9 0 1 "" NA18956 nsv514640 11 92607088 92612432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628117 S 1414 0 1 "" dgv234n67 11 92607630 92612361 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826035,nsv826034 M 31 0 6 "" AK14,AK20,NA18566,NA18949,NA18969,NA18999 nsv498765 11 92607649 92612343 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585498 S 9 0 1 "" esv2076907 11 92615803 92616539 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599261 S 1 0 1 "" NA18507 esv2485859 11 92615847 92617656 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345562 S 1 0 1 "" NA18507 esv3895 11 92615914 92616402 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26336 S 1 0 1 Single Asian sample YH "" YH nsv526846 11 92632247 92632522 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703204 S 2026 1 0 "" esv2557921 11 92660062 92662100 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193547 S 1 0 1 "" NA18507 esv992255 11 92660071 92663887 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563795 S 3 0 1 "" HuRef esv2421577 11 92660131 92669109 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5036355,essv5024119,essv5152747,essv5028519,essv5019651,essv5130531,essv5135430,essv5052216,essv5073947,essv5104853,essv5044653,essv5088001,essv5112026,essv5070272,essv5096686,essv5020470,essv5105684,essv5050267,essv5022540,essv5113421,essv5108854,essv5053641,essv5125005,essv5118026,essv5146666,essv5029889 M 1184 0 26 "" NA10837,NA10850,NA10853,NA11881,NA11892,NA12272,NA12753,NA12762,NA19652,NA19653,NA19675,NA19677,NA19679,NA19680,NA19762,NA20505,NA20510,NA20760,NA20783,NA20804,NA20826,NA20859,NA20887,NA20888,NA20892,NA21100 esv1983585 11 92660609 92661967 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524777 S 1 0 1 "" NA18507 dgv235n67 11 92660681 92661839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826037,nsv826036 M 31 0 4 "" AK10,AK18,NA18542,NA18570 dgv24e180 11 92660785 92661839 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995548,esv1000980 M 3 0 1 "" HuRef esv25028 11 92660785 92661933 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19979 S 451 0 15 "" NA06985,NA11993,NA12006,NA12044,NA12156,NA12287,NA12489,NA12749,NA12828,NA15510,NA18517,NA18907,NA18916,NA19099,NA19225 nsv826038 11 92661021 92661839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435327 S 31 0 1 "" NA18942 nsv516245 11 92665226 92668588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667023,nssv678664,nssv689089,nssv660775,nssv688953,nssv654773 M 2026 0 6 "" nsv437 11 92668933 92702501 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2870 S 9 1 0 "" NA18555 esv2525820 11 92672153 92672210 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190164 S 1 0 1 "" NA18507 nsv438 11 92674059 92720161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6475 S 9 0 1 CCDC67 NA12156 nsv898180 11 92685209 92721701 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513564 S 6533 1 0 CCDC67 SP55797 nsv468793 11 92707811 92769541 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543876 S 1557 0 1 CCDC67 1780854255_A nsv898181 11 92712491 93302107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503061 S 6533 1 0 C11orf54,C11orf75,CCDC67,KIAA1731,MED17,MIR1304,SCARNA9,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D,VSTM5 SP51481 nsv507609 11 92733564 92739564 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619052 S 4 1 0 CCDC67 NA10860 esv2478418 11 92741563 92743232 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270498 S 1 0 1 CCDC67 NA18507 esv2316215 11 92742263 92742979 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675350 S 1 0 1 CCDC67 NA18507 esv3167 11 92742377 92742875 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25608 S 1 0 1 Single Asian sample YH CCDC67 YH esv1004124 11 92742451 92742768 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576368 S 3 0 1 CCDC67 HuRef esv1760867 11 92742463 92742781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808968 S 2 0 1 CCDC67 HuRef esv5775 11 92742465 92742767 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28216 S 1 0 1 CCDC67 SJK nsv439 11 92775584 92811330 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1952,nssv5373,nssv6476,nssv1029 M 9 0 4 CCDC67 NA12156,NA18555,NA19129,NA19240 nsv508649 11 92780547 92820740 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619982,nssv617391,nssv618781,nssv622576 M 4 0 4 CCDC67 CHM,NA10860,NA15510,NA18994 dgv38n16 11 92792265 92800397 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436125,nsv435919 M 2 0 2 CCDC67 NA15510,NA18505 esv1003032 11 92793472 92800699 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563955 S 3 0 1 CCDC67 HuRef nsv498766 11 92793783 92798228 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585509 S 9 0 1 CCDC67 esv1079371 11 92793798 92799859 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234202 S 2 0 1 CCDC67 HuRef esv269989 11 92825151 92825523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511866,essv2506050,essv2506999 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18523,NA19102 dgv79n21 11 92870785 92880495 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516461,nsv522568 M 2026 0 6 C11orf75 esv275272 11 92971829 92976597 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585501,essv2586130 M 1250 1 1 "" nsv440 11 92985186 93017124 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1953 S 9 1 0 "" NA18555 esv1606043 11 92994377 92994377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074045 S 2 1 0 "" HuRef nsv898182 11 93021493 93277110 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541346 S 6533 1 0 C11orf54,KIAA1731,MED17,MIR1304,SCARNA9,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D,VSTM5 MS15269 nsv832232 11 93040962 93189086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449392 S 95 1 0 C11orf54,KIAA1731,MED17,MIR1304,SCARNA9,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6,TAF1D nsv525639 11 93045711 93050801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701793 S 2026 0 1 KIAA1731 nsv527168 11 93049452 93050801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703562 S 2026 0 1 KIAA1731 nsv441 11 93054470 93089858 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1030 S 9 1 0 KIAA1731 NA19240 nsv819292 11 93076633 93079708 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419505 S 2 1 0 KIAA1731 AK1 nsv826039 11 93217401 93218155 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425220 S 31 0 1 VSTM5 AK2 esv1952279 11 93217466 93218056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685994 S 1 0 1 VSTM5 NA18507 esv3250 11 93217619 93217979 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25691 S 1 0 1 Single Asian sample YH VSTM5 YH nsv508650 11 93248658 93353224 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618782,nssv622579 M 4 0 2 "" NA10860,NA18994 esv22593 11 93275836 93280841 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10748,esv11328,esv16352 M 451 5 0 "" NA12239,NA18505,NA18511,NA18861,NA19257 esv1718996 11 93284978 93284978 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973342 S 2 1 0 "" HuRef nsv442 11 93304765 93357621 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9824,nssv1956,nssv8949 M 9 0 3 "" NA12156,NA18507,NA18555 dgv418e1 11 93315872 93337708 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13211,essv6785,essv19157,essv19827 M 271 0 0 "" NA10847,NA12812,NA18594,NA19120 dgv419e1 11 93315872 93344108 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11480,essv20499 M 271 0 0 "" NA12874,NA18856 dgv420e1 11 93315872 93354598 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv921,essv6472 M 271 0 0 "" NA18637 esv2434183 11 93318526 93322089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183941 S 1 0 1 "" NA18507 dgv421e1 11 93318584 93327428 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14828,essv3672,essv12143 M 271 0 0 "" NA18505,NA18943,NA19119 dgv422e1 11 93318584 93330980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10715,essv8683,essv22723,essv15971,essv12012,essv25035,essv24450,essv23644,essv16173,essv9524,essv8008 M 271 0 0 "" NA07055,NA12239,NA12801,NA12865,NA18506,NA18508,NA18912,NA19141,NA19142,NA19221,NA19223 nsv512238 11 93318591 93321100 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624809 S 1 0 1 "" 1 esv2248229 11 93318686 93321266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891048 S 1 0 1 "" NA18507 esv4185 11 93318856 93321190 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26626 S 1 0 1 Single Asian sample YH "" YH esv1043552 11 93318877 93321071 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782767 S 2 0 1 "" HuRef nsv498767 11 93318877 93321073 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585520 S 9 0 1 "" dgv25e180 11 93318878 93321310 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999786,esv1001751 M 3 0 1 "" HuRef esv6270 11 93318896 93321036 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28711 S 1 0 1 "" SJK esv1010994 11 93322889 93325173 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564536 S 3 0 1 "" HuRef esv27662 11 93322901 93328209 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21094 S 451 0 6 "" NA12239,NA18505,NA18508,NA18907,NA18909,NA19147 dgv26e180 11 93322945 93328234 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989117,esv1011018 M 3 0 1 "" HuRef nsv8863 11 93323530 93329495 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25411,nssv18605 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA19221 esv2511618 11 93334252 93342520 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282027 S 1 0 1 "" NA18507 nsv8864 11 93334320 93342207 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20627,nssv21358,nssv20176,nssv18592 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18942,NA19144 esv2590394 11 93334651 93341898 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372357 S 1 0 1 "" NA18507 esv2333689 11 93334678 93341915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802819 S 1 0 1 "" NA18507 dgv236n67 11 93334847 93341720 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826040,nsv826041,nsv826043,nsv826044 M 31 0 9 "" AK2,NA18526,NA18547,NA18552,NA18566,NA18942,NA18947,NA18969,NA18997 nsv498768 11 93334868 93341734 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585531 S 9 0 1 "" esv24419 11 93334915 93341704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19664 S 451 0 2 "" NA18907,NA19108 nsv514641 11 93335144 93341600 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628118 S 1414 0 1 "" nsv442240 11 93337704 93341240 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422141 11 93337708 93341717 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027894,essv5099756,essv5113558,essv5087723,essv5103808,essv5119815,essv5064648,essv5123885,essv5156169,essv5036628,essv5005476,essv5018942,essv5144346,essv5079361,essv5058821,essv5151426,essv5114740,essv5105270,essv5096906,essv5017569,essv5043978,essv5122269,essv5064197,essv5126148,essv5153837,essv5132089,essv5010528,essv5038272,essv5083318,essv5013896,essv5089928,essv5047059,essv5146446,essv5122443,essv5144002,essv5119544,essv5147969,essv5074715,essv5117784,essv5146479,essv5114646,essv5119396,essv5129113,essv5068717,essv5021878,essv5038678,essv5127030,essv5067321,essv5083212,essv5140150,essv5152961,essv5089068,essv5073326,essv5128764,essv5043555,essv5060838,essv5084341,essv5042773,essv5151883,essv5060636,essv5026818,essv5146729,essv5138441,essv5006271,essv5028741,essv5132791,essv5014915,essv5104199,essv5039330,essv5016870,essv5138771,essv5152948,essv5152550,essv5013671,essv5013662,essv5066837,essv5044447,essv5112121,essv5009859,essv5047749,essv5031980,essv5056671,essv5005478,essv5015672,essv5034160,essv5012736,essv5035928,essv5155778,essv5054654,essv5100658,essv5017053,essv5058862,essv5051335,essv5050461,essv5109124,essv5080053,essv5097634,essv5120957,essv5083434,essv5058513,essv5103129,essv5122415,essv5014440,essv5058938,essv5107218,essv5141891,essv5045946,essv5067315,essv5077284,essv5028382,essv5053801,essv5032858,essv5035321,essv5024223,essv5072083,essv5132645,essv5116295,essv5120848,essv5060017,essv5141358,essv5007726,essv5019103,essv5026555,essv5127732,essv5069895,essv5064686,essv5071822,essv5140525,essv5043402,essv5107094,essv5019722,essv5050312,essv5021941,essv5070065,essv5084067,essv5042432,essv5103660,essv5126905,essv5103466 M 1184 0 139 "" NA17962,NA17968,NA17969,NA17988,NA17998,NA18146,NA18150,NA18161,NA18506,NA18507,NA18526,NA18532,NA18543,NA18548,NA18552,NA18563,NA18566,NA18573,NA18576,NA18593,NA18608,NA18610,NA18614,NA18619,NA18620,NA18634,NA18670,NA18689,NA18696,NA18704,NA18747,NA18857,NA18868,NA18869,NA18913,NA18914,NA18924,NA18933,NA18935,NA18940,NA18942,NA18947,NA18959,NA18969,NA18971,NA18997,NA19009,NA19027,NA19036,NA19044,NA19046,NA19059,NA19060,NA19062,NA19072,NA19076,NA19086,NA19093,NA19101,NA19108,NA19109,NA19117,NA19122,NA19123,NA19140,NA19143,NA19144,NA19160,NA19189,NA19191,NA19200,NA19201,NA19202,NA19213,NA19215,NA19226,NA19238,NA19247,NA19249,NA19310,NA19311,NA19314,NA19319,NA19332,NA19350,NA19380,NA19385,NA19393,NA19394,NA19398,NA19428,NA19429,NA19430,NA19434,NA19438,NA19443,NA19446,NA19456,NA19457,NA19469,NA19470,NA19474,NA19714,NA19909,NA19914,NA19919,NA20127,NA20128,NA20322,NA20333,NA20335,NA20348,NA20766,NA20828,NA20856,NA20866,NA20885,NA21356,NA21360,NA21361,NA21371,NA21382,NA21385,NA21420,NA21440,NA21441,NA21442,NA21448,NA21512,NA21513,NA21514,NA21526,NA21527,NA21647,NA21682,NA21689,NA21716,NA21719,NA21739 nsv898183 11 93365032 93546383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539545 S 6533 0 1 HEPHL1,PANX1 MS14359 esv2178551 11 93367488 93367942 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511391 S 1 0 1 "" NA18507 nsv898184 11 93381260 93609374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541347 S 6533 1 0 HEPHL1,PANX1 MS15269 nsv523082 11 93473871 93505795 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698773 S 2026 1 0 HEPHL1,PANX1 nsv508651 11 93473948 93520118 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622582 S 4 0 1 HEPHL1,PANX1 NA18994 nsv898185 11 93490696 93567177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552135 S 6533 0 1 PANX1 MS19226 esv989619 11 93501585 93512560 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564057 S 3 0 1 PANX1 HuRef nsv469980 11 93503969 93601769 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546207 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PANX1 HGDP01254 nsv468795 11 93503969 93604565 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543877 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PANX1 HGDP01254 nsv517664 11 93505795 93552684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689662,nssv652761,nssv673392,nssv664725,nssv655683,nssv680736,nssv693488,nssv660324,nssv689570,nssv676732,nssv671466,nssv690033,nssv690793,nssv700440 M 2026 0 14 PANX1 nsv509438 11 93585429 93631225 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619443,nssv620863 M 4 2 0 "" NA10860,NA15510 nsv523083 11 93601769 93790438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698774 S 2026 1 0 FOLR4,GPR83,MRE11A nsv513746 11 93607483 93613051 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626998 S 1 1 0 "" 1 esv1711460 11 93607635 93613268 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191911 S 2 0 1 "" HuRef nsv832233 11 93621082 93798119 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449393 S 95 1 0 FOLR4,GPR83,MRE11A esv2509050 11 93731439 93731488 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178146 S 1 0 1 "" NA18507 nsv38987 11 93731440 93731489 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57565 M 24 "" nsv443 11 93800642 93825519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8950 S 9 1 0 MRE11A NA12156 esv2575562 11 93830687 93832260 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235887 S 1 0 1 MRE11A NA18507 nsv820080 11 93851527 93852450 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419122 S 2 0 1 MRE11A AK1 nsv819611 11 93871853 93872177 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418671 S 2 0 1 ANKRD49 AK1 esv993276 11 93888592 93891477 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586201 S 3 0 1 LOC643037 HuRef nsv519248 11 94004009 94006944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696740 S 2026 0 1 "" nsv521986 11 94004009 94008853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694753 S 2026 0 1 "" nsv832234 11 94101838 94267493 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449394 S 95 1 0 AMOTL1 nsv898186 11 94102741 94283658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595795 S 6533 1 0 AMOTL1 IS40329 nsv445 11 94133193 94162925 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10833 S 9 1 0 AMOTL1 NA18956 esv5757 11 94181185 94185411 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28198 S 1 0 0 AMOTL1 SJK nsv898187 11 94231527 94324566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585471,nssv1579941,nssv1579764,nssv1585363 M 6533 0 4 AMOTL1 IS35179,IS35190,IS37428,IS37467 esv272107 11 94263162 94263348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504215,essv2500595 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18571 nsv509439 11 94321975 94332631 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619445 S 4 1 0 "" NA10860 nsv446 11 94333368 94378560 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8952 S 9 0 1 CWC15,KDM4D NA12156 nsv518887 11 94352493 94356646 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696346 S 2026 1 0 KDM4D esv2446980 11 94398334 94423240 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230314 S 1 0 1 KDM4DL NA18507 esv7852 11 94398378 94422295 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30293 S 1 0 1 KDM4DL SJK nsv826045 11 94399330 94422085 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430043 S 31 1 0 KDM4DL AK14 nsv898188 11 94432038 94528962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528714 S 6533 0 1 ENDOD1,SRSF8 SP81352 nsv898189 11 94448363 94498067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601095 S 6533 0 1 ENDOD1 IS41968 esv992223 11 94468240 94468240 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571470 S 3 1 0 ENDOD1 HuRef esv1343006 11 94468241 94468241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247818 S 2 1 0 ENDOD1 HuRef nsv447 11 94553858 94578432 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6477 S 9 0 1 SESN3 NA12156 esv989063 11 94578987 94585421 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563938 S 3 0 1 SESN3 HuRef esv994857 11 94579735 94581479 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587236 S 3 0 1 SESN3 HuRef esv2019720 11 94677602 94678059 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562973 S 1 0 1 "" NA18507 nsv39727 11 94694868 94694868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58305 M 24 "" nsv898190 11 94801223 94890524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548959 S 6533 0 1 "" MS17958 nsv448 11 94803671 94823311 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3980 S 9 0 1 "" NA12878 nsv523727 11 94807509 94820327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699543 S 2026 0 1 "" nsv508652 11 94807813 94830826 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618788,nssv617392 M 4 0 2 "" CHM,NA10860 nsv512239 11 94808972 94815357 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624811 S 1 0 1 "" 1 esv9329 11 94809028 94815104 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31770 S 1 0 1 "" SJK esv2421383 11 94815331 94820327 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028406,essv5132746,essv5096548,essv5015838,essv5121671,essv5061296,essv5099338,essv5025695,essv5142469,essv5033428,essv5018546,essv5144048,essv5046537,essv5015062,essv5033214,essv5098564 M 1184 0 16 "" NA19436,NA20347,NA20359,NA20360,NA21302,NA21303,NA21352,NA21353,NA21388,NA21400,NA21401,NA21414,NA21489,NA21494,NA21522,NA21682 nsv468796 11 94815941 94820327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543878 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00991 nsv518672 11 94817553 94820327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696122 S 2026 0 1 "" nsv449 11 94829347 94860370 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10834 S 9 1 0 "" NA18956 esv267979 11 94883316 94883730 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509962,essv2500780 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18593,NA18973 esv267907 11 95011200 95011547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521218,essv2526308,essv2521808,essv2535073,essv2564762,essv2577927,essv2553528,essv2562049,essv2544612,essv2541218,essv2534773,essv2549162,essv2519787,essv2532533,essv2567706,essv2541812,essv2570210,essv2559223,essv2551033,essv2578465,essv2566550,essv2529948,essv2527412,essv2531469,essv2573343,essv2577004,essv2538800,essv2535996,essv2548869,essv2533200,essv2547800,essv2524891 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07347,NA07357,NA11894,NA11918,NA12144,NA12249,NA12751,NA12761,NA12763,NA12874,NA18526,NA18545,NA18561,NA18564,NA18566,NA18576,NA18577,NA18592,NA18593,NA18638,NA18858,NA18940,NA18948,NA18949,NA18952,NA18961,NA18964,NA18970,NA19108 nsv450 11 95051778 95084417 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1032 S 9 1 0 "" NA19240 nsv521090 11 95081883 95112039 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697781 S 2026 1 0 "" nsv39590 11 95093287 95093287 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58168 M 24 "" esv2411553 11 95119903 95120371 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814593 S 1 0 1 "" NA18507 nsv832235 11 95126424 95307883 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449396 S 95 1 0 CEP57,FAM76B,MTMR2 esv2606020 11 95173972 95175455 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359599 S 1 0 1 CEP57 NA18507 esv269241 11 95222972 95223186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510153,essv2503928 M 157 2 0 Samples from several populations that are part of the HapMap project. MTMR2 NA07037,NA11829 nsv517358 11 95324507 95347800 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657655,nssv684094,nssv678467,nssv651810,nssv673501,nssv692867,nssv663721,nssv660988,nssv666295,nssv652235,nssv679892,nssv674846,nssv691219,nssv665836,nssv653238 M 2026 15 0 "" nsv468797 11 95324507 95351562 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543879 S 1557 0 1 MAML2 NINDS_152 nsv819086 11 95377241 95383061 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419738 S 2 0 1 MAML2 AK1 dgv34n17 11 95436697 95466766 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437720,nsv437719 M 60 0 2 MAML2 NA18872,NA19142 esv2422272 11 95454157 95472813 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161411 S 181 0 1 MAML2 ND01496 esv2560136 11 95462507 95463020 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166766 S 1 1 0 MAML2 NA18507 nsv39583 11 95494617 95494762 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58161 M 24 MAML2 esv271634 11 95509129 95509368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494077,essv2497081 M 157 2 0 Samples from several populations that are part of the HapMap project. MAML2 NA18871,NA19190 nsv898191 11 95551040 95756092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579224 S 6533 1 0 CCDC82,MAML2,MIR1260B IS35072 esv2304443 11 95554376 95554799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662122 S 1 0 1 MAML2 NA18507 dgv80n21 11 95572771 95579484 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526286,nsv522278 M 2026 0 2 MAML2 nsv468798 11 95592312 95617318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543880 S 1557 0 1 MAML2 NINDS_67 nsv516311 11 95619379 95620715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661011,nssv657656,nssv700335,nssv662243,nssv687956,nssv686080,nssv670995,nssv667493,nssv696118,nssv657804,nssv672437,nssv675496,nssv657036 M 2026 0 13 MAML2 esv2609509 11 95640884 95643579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340361 S 1 0 1 MAML2 NA18507 esv2012527 11 95641415 95643160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777302 S 1 0 1 MAML2 NA18507 esv8752 11 95641446 95643043 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31193 S 1 0 1 MAML2 SJK nsv826046 11 95641562 95642444 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439157,nssv1429301,nssv1439888,nssv1422059,nssv1430044,nssv1431073 M 31 0 6 MAML2 AK12,AK14,NA18537,NA18547,NA18973,NA18997 nsv39676 11 95641573 95643042 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58254 M 24 MAML2 esv24759 11 95641767 95643052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18718 S 451 0 6 MAML2 NA12414,NA15510,NA18508,NA18523,NA19225,NA19240 nsv898192 11 95841817 95945638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593316 S 6533 0 1 "" IS39400 nsv516287 11 95847907 95907171 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667340,nssv655853,nssv675157,nssv687257,nssv671169 M 2026 0 5 "" esv2569306 11 95871823 95873352 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215962 S 1 0 1 "" NA18507 esv2111227 11 95872608 95873286 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689215 S 1 0 1 "" NA18507 esv9550 11 95872770 95873088 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31991 S 1 0 1 "" SJK nsv39134 11 95872781 95873092 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57712 M 24 "" nsv898193 11 95907171 96075625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546194 S 6533 0 1 "" MS17114 esv2120936 11 95915745 95916243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560104 S 1 0 1 "" NA18507 nsv898194 11 95952973 95998435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513045 S 6533 0 1 "" SP55671 nsv898195 11 96062387 96108514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558548 S 6533 0 1 "" MS23340 esv1002988 11 96119980 96120306 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576399 S 3 0 1 "" HuRef esv1244598 11 96119983 96120310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259214 S 2 0 1 "" HuRef esv268447 11 96125871 96125996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509801,essv2496509,essv2494810,essv2508962,essv2501038,essv2506545,essv2498809,essv2501748 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18510,NA18519,NA18522,NA18856,NA19108,NA19138,NA19239 esv273772 11 96125872 96126165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580955 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 dgv1274n71 11 96146928 96247260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898196,nsv898198,nsv898197 M 6533 0 4 "" SP51007,SP53550,SP57564,SP81061 nsv513330 11 96171031 96171186 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625720 S 1 1 0 "" 1 esv1181744 11 96171137 96171137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197046 S 2 1 0 "" HuRef nsv826047 11 96191296 96202267 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428542 S 31 1 0 "" AK10 nsv898199 11 96195766 96425042 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580399 S 6533 0 1 "" IS35294 nsv469981 11 96208893 96285675 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546208 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00577 esv22100 11 96255350 96258573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19180 S 451 0 1 "" NA19225 nsv898200 11 96285675 96337593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554454 S 6533 0 1 "" MS20813 nsv528072 11 96298989 96302097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704608 S 2026 0 1 "" esv28036 11 96327136 96334536 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15806 S 451 1 0 "" NA19147 nsv898201 11 96350574 96432423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569195 S 6533 1 0 "" IS31543 nsv898202 11 96354015 96464735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511915 S 6533 0 1 "" SP55174 dgv423e1 11 96355736 96576298 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8677,essv15711 M 271 0 0 "" NA18912 esv539 11 96355736 96698006 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 "" nsv898203 11 96432423 96480303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555310 S 6533 0 1 "" MS21258 nsv525078 11 96472124 96550210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701133 S 2026 0 1 "" esv35013 11 96479400 96549641 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979991,essv6989136,essv6988286 M 771 0 1 "" NA18912 nsv898204 11 96497906 96554832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568450 S 6533 0 1 "" IS31285 nsv468799 11 96500421 96550210 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543881 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00011 esv2751037 11 96511512 96631600 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982087,essv6982086,essv6982085,essv6989569,essv6989568 M 771 0 1 "" BEC_519 essv23549 11 96530728 96698006 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA06993 esv2520359 11 96586442 96587854 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332517 S 1 0 1 "" NA18507 nsv8865 11 96613051 96614890 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21098 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 esv1668635 11 96637144 96637240 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310042 S 2 0 1 "" HuRef nsv451 11 96639751 96666511 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3981 S 9 1 0 "" NA12878 nsv898205 11 96668580 96806648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552479 S 6533 0 1 "" MS19454 nsv512240 11 96677383 96678288 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624812 S 1 0 1 "" 1 esv6853 11 96689398 96689482 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29294 S 1 1 0 "" SJK esv271281 11 96690241 96690443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517015 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 esv1409654 11 96694132 96694132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892536 S 2 1 0 "" HuRef nsv821669 11 96765260 96946383 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421243 S 31 0 1 "" esv270808 11 96781209 96781319 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510582,essv2500993,essv2499013 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18856,NA19114 nsv898206 11 96836082 96920843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551349 S 6533 0 1 "" MS18847 dgv1275n71 11 96880169 96944291 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898207,nsv898208 M 6533 0 3 "" MS20041,SP53508,SP57501 nsv898209 11 96893890 96973620 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565962 S 6533 0 1 "" IS30539 nsv469982 11 96906155 97129583 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546210,nssv546211 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00716,HGDP01182 nsv832236 11 96920358 97103806 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449397 S 95 0 1 "" nsv468801 11 96944291 96986882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543883 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01400 nsv898210 11 96944291 97141878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522336,nssv1528981 M 6533 0 2 "" SP52908,SP81412 nsv898211 11 96953573 96999517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547717 S 6533 0 1 "" MS17527 nsv898212 11 96957871 97137084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543044 S 6533 1 0 "" MS16032 esv1158424 11 96971064 96971064 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587408 S 2 1 0 "" HuRef esv268433 11 96978781 96978866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514053 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv832238 11 97008784 97168670 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449399,nssv1449398 M 95 2 0 "" nsv832239 11 97018574 97051350 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449400 S 95 0 1 "" esv2440414 11 97022372 97026953 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311530 S 1 0 1 "" NA18507 nsv436137 11 97022422 97027735 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466667 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2602222 11 97022588 97024771 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372586 S 1 0 1 "" NA18507 esv28599 11 97022917 97026465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19852 S 451 0 6 "" NA18505,NA18523,NA18861,NA18916,NA19225,NA19257 nsv516151 11 97023895 97025197 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665514,nssv674827,nssv693896,nssv676409,nssv690388,nssv671390,nssv684779,nssv660325,nssv665608,nssv680303,nssv671287,nssv685348,nssv652762,nssv686100,nssv681248,nssv690932,nssv675082,nssv675497,nssv663065,nssv660776,nssv664645,nssv652330,nssv677086,nssv662526,nssv688699,nssv665329,nssv672803,nssv655094,nssv661012,nssv671540,nssv653615,nssv654563,nssv686895,nssv680036,nssv684044,nssv665686,nssv677610,nssv692164,nssv672414,nssv667913,nssv687575 M 2026 0 41 "" nsv898213 11 97046847 97207286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553896,nssv1531135,nssv1550166 M 6533 0 3 "" MS10350,MS18332,MS20361 nsv452 11 97055976 97057070 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3982 S 9 1 0 "" NA12878 nsv468803 11 97062996 97122773 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543884 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00716 dgv1276n71 11 97080194 97168674 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898214,nsv898215 M 6533 0 2 "" IS36517,IS41955 dgv424e1 11 97120050 97249540 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv997,esv1079 M 271 0 0 "" NA18964 nsv898216 11 97132073 97207286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579549 S 6533 0 1 "" IS35129 nsv898217 11 97176203 97249540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577907 S 6533 0 1 "" IS34599 esv1345732 11 97209859 97209859 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185315 S 2 1 0 "" HuRef esv2751038 11 97211948 97283012 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989190,essv6980653 M 771 0 1 "" BEC_101 nsv898218 11 97217864 97403418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519263 S 6533 0 1 "" SP80992 nsv826048 11 97241976 97242486 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425222,nssv1426021 M 31 2 0 "" AK2,AK4 nsv468804 11 97242217 97848847 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543885 S 1557 0 1 "" 1780862111_A dgv425e1 11 97309468 97384974 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1,esv1384 M 271 0 0 "" NA18945 dgv1277n71 11 97319735 97396117 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898220,nsv898219 M 6533 0 21 "" IS38490,MS10106,MS12932,MS13294,MS14450,MS14562,MS15364,MS15458,MS24437,MS25139,SP50805,SP51290,SP53444,SP56582,SP56788,SP57105,SP57534,SP57662,SP57734,SP58053,SP81160 dgv1278n71 11 97322177 97384808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898222,nsv898221,nsv898223,nsv898225,nsv898224,nsv898226 M 6533 0 18 "" SP50996,SP50997,SP52055,SP52060,SP52234,SP52399,SP54722,SP55212,SP55264,SP55926,SP56833,SP57010,SP57020,SP57347,SP57408,SP57445,SP58556,SP80948 esv34819 11 97323686 97379032 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988300,essv6980043,essv6989142 M 771 0 1 "" NA18945 nsv468806 11 97328263 97338387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543887 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01346 nsv526112 11 97338387 97380183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702361 S 2026 0 1 "" nsv832240 11 97364165 97534210 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449425,nssv1449410,nssv1449417,nssv1449402,nssv1449416,nssv1449419,nssv1449424,nssv1449423,nssv1449420,nssv1449421,nssv1449431,nssv1449430,nssv1449426,nssv1449428,nssv1449427,nssv1449435,nssv1449432,nssv1449434,nssv1449437,nssv1449436,nssv1449401,nssv1449403,nssv1449415,nssv1449422,nssv1449405,nssv1449404,nssv1449409,nssv1449414,nssv1449408,nssv1449413,nssv1449412,nssv1449433,nssv1449411 M 95 1 32 "" esv24239 11 97420530 97422556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12505 S 451 0 1 "" NA18505 dgv1279n71 11 97424331 97599883 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898228,nsv898227 M 6533 0 2 "" IS35572,MS21020 nsv898229 11 97437930 97497959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582554 S 6533 0 1 "" IS35993 nsv898230 11 97452191 97530485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541186 S 6533 0 1 "" MS15199 nsv468808 11 97463167 97514897 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543888 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00782 dgv1280n71 11 97477769 97617703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898231,nsv898232,nsv898236,nsv898235 M 6533 0 4 "" IS34489,IS34856,IS35229,IS41113 dgv1281n71 11 97477769 97838805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898234,nsv898233,nsv898238 M 6533 0 3 "" IS30899,IS31179,MS18620 nsv832241 11 97504973 97723820 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449438 S 95 0 1 "" nsv898237 11 97559190 97715250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556633 S 6533 0 1 "" MS22104 nsv898239 11 97617703 97781071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583580 S 6533 0 1 "" IS36533 nsv515533 11 97635266 97718006 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679893,nssv668076,nssv663846 M 2026 3 0 "" nsv898240 11 97649299 97726933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520175,nssv1511818 M 6533 0 2 "" SP50721,SP55102 nsv898241 11 97649299 97838805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568156 S 6533 0 1 "" IS31205 nsv522057 11 97661928 97847676 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694828 S 2026 1 0 "" esv1158211 11 97701501 97701501 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951814 S 2 1 0 "" HuRef dgv1282n71 11 97718006 97838805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898244,nsv898242,nsv898243 M 6533 0 3 "" IS41263,IS41926,MS10393 nsv898245 11 97726933 97862596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554088 S 6533 0 1 "" MS20612 esv2626407 11 97752594 97754304 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387851 S 1 0 1 "" NA18507 dgv1283n71 11 97752953 97838805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898246,nsv898247 M 6533 0 9 "" IS31373,IS31617,IS31729,IS33507,IS35911,IS36219,IS39475,MS17114,MS22104 esv2030101 11 97753222 97754008 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562801 S 1 0 1 "" NA18507 nsv820781 11 97753358 97753847 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420955 S 1 0 1 "" NA10851 nsv826049 11 97753358 97753847 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426945,nssv1430045,nssv1426022,nssv1441357,nssv1427725,nssv1440561,nssv1439158,nssv1436080,nssv1423656,nssv1435329,nssv1435130,nssv1425223,nssv1429302,nssv1428563,nssv1424453,nssv1432316,nssv1431196,nssv1433076,nssv1433887,nssv1437671 M 31 20 0 "" AK12,AK14,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18564,NA18566,NA18582,NA18592,NA18942,NA18949,NA18968,NA18969,NA18972,NA18973,NA18999 nsv468811 11 97787546 97825623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543889 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00165 nsv898248 11 97796259 97848847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515070 S 6533 0 1 "" SP56119 esv1289465 11 97799412 97799412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963242 S 2 1 0 "" HuRef nsv510270 11 97808821 97814821 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621298,nssv624048,nssv618350,nssv622117 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv518605 11 97860221 97862870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696051 S 2026 0 1 "" dgv1284n71 11 97912888 97951522 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898250,nsv898249 M 6533 2 0 "" MS15767,MS18620 nsv468812 11 97962694 97986603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543890 S 1557 0 1 "" 1780854293_A esv268988 11 97972545 97972725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496610,essv2496187,essv2508980,essv2505880,essv2501473 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18511,NA18522,NA18861,NA19093 esv29604 11 97978660 97981754 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16263 S 451 0 6 "" NA18502,NA18505,NA18861,NA19099,NA19114,NA19129 nsv468813 11 97986603 98028284 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543891 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01346 esv1664157 11 97987278 97987278 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083947 S 2 1 0 "" HuRef nsv453 11 98000196 98021926 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3983 S 9 1 0 "" NA12878 nsv826050 11 98018200 98018702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428543 S 31 0 1 "" AK10 dgv1285n71 11 98048040 98110738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898251,nsv898252 M 6533 0 4 "" IS35229,IS35244,IS35771,MS12827 nsv522928 11 98051843 98071804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698591 S 2026 0 1 "" nsv468814 11 98059142 98100845 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543892 S 1557 0 1 "" NINDS_183 nsv524110 11 98100276 98100845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699988 S 2026 0 1 "" nsv898253 11 98132117 98346726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572946 S 6533 0 1 "" IS33196 esv1398843 11 98146054 98146054 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037880 S 2 1 0 "" HuRef nsv898254 11 98166531 98268795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569971 S 6533 0 1 "" IS31758 nsv468819 11 98178721 98211869 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543894 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00924 dgv1286n71 11 98191444 98347516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898256,nsv898255 M 6533 0 2 "" MS17697,SP52694 dgv1287n71 11 98225206 98274644 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898257,nsv898258 M 6533 0 2 "" IS31046,IS31330 dgv426e1 11 98266953 98310378 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18793,esv1412 M 271 0 0 "" NA12891 nsv832242 11 98269433 98463594 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449439 S 95 0 1 CNTN5 nsv818859 11 98271560 98312568 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416184 S 112 0 1 "" NA12891 esv35016 11 98274111 98310400 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989065,essv6979089 M 771 0 1 "" NA12891 dgv1288n71 11 98278284 98347516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898259,nsv898262,nsv898260 M 6533 0 3 "" IS32150,MS17642,SP56004 esv271776 11 98279882 98280207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557937,essv2575927,essv2571640,essv2546208,essv2521442,essv2542281,essv2522877,essv2556818,essv2531906,essv2548393,essv2521690,essv2550476,essv2520438,essv2547284,essv2558536,essv2564392,essv2565561,essv2576187,essv2520127,essv2564262,essv2530741,essv2537624,essv2528185,essv2546916,essv2540100,essv2532121,essv2578768,essv2550140,essv2527322,essv2541350,essv2538429,essv2534946,essv2560947,essv2549449,essv2519719,essv2553233,essv2572599,essv2566899,essv2529487,essv2560829,essv2551309,essv2537784,essv2548960,essv2524868,essv2563361 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA10847,NA10851,NA11830,NA11840,NA11881,NA11894,NA11919,NA11931,NA11994,NA12006,NA12045,NA12144,NA12234,NA12716,NA12717,NA12750,NA12751,NA12812,NA12814,NA12815,NA12828,NA12873,NA12878,NA12891,NA12892,NA18489,NA18505,NA18510,NA18511,NA18522,NA18545,NA18547,NA18561,NA18562,NA18564,NA18566,NA18605,NA18609,NA18853,NA19093,NA19137,NA19257 esv272731 11 98279883 98280208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582229,essv2582285,essv2582833 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv898261 11 98281405 98371288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591747 S 6533 0 1 "" IS39011 nsv469983 11 98300746 98341301 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546212 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00970 nsv428265 11 98312645 98605648 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452206 S 62 0 1 CNTN5 HGDP00474 dgv167n27 11 98316369 98341301 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468822,nsv468821 M 1557 0 2 "" HGDP00003,HGDP01414 nsv520928 11 98323965 98330947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697693 S 2026 0 1 "" nsv898263 11 98355669 98412813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534222 S 6533 1 0 CNTN5 MS11487 nsv898264 11 98374433 98412813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581741 S 6533 1 0 CNTN5 IS35704 nsv468823 11 98438373 98539370 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543897 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00474 nsv469984 11 98438373 98542784 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546214,nssv546213 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00474,HGDP00893 dgv1289n71 11 98469846 98598979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898266,nsv898265 M 6533 0 2 CNTN5 MS18407,SP52543 esv33558 11 98512312 98512400 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98856 S 51 1 0 CNTN5 21606 dgv1290n71 11 98512697 98558427 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898271,nsv898267,nsv898270 M 6533 0 6 CNTN5 IS30539,IS34645,IS34856,IS35100,IS39666,IS39900 esv32699 11 98515776 98519388 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100026 S 51 0 1 CNTN5 22086 dgv1291n71 11 98517696 98544897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898268,nsv898269 M 6533 0 2 CNTN5 IS31554,IS35771 nsv525174 11 98526770 98530204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701250 S 2026 0 1 CNTN5 nsv516785 11 98530204 98530405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686081,nssv653458 M 2026 0 2 CNTN5 nsv517422 11 98534439 98536566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664249,nssv651977,nssv671170 M 2026 0 3 CNTN5 nsv898272 11 98536797 98548118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581851 S 6533 0 1 CNTN5 IS35742 nsv520993 11 98539071 98595718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697726 S 2026 0 1 CNTN5 nsv524013 11 98546758 98549764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699873 S 2026 0 1 CNTN5 nsv898273 11 98560465 98595718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600812 S 6533 0 1 CNTN5 IS41926 esv2299250 11 98561675 98562067 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722820 S 1 0 1 CNTN5 NA18507 esv1001289 11 98561768 98561828 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576278 S 3 0 1 CNTN5 HuRef esv1232702 11 98561886 98561947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855481 S 2 0 1 CNTN5 HuRef nsv468824 11 98567845 98593257 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543898 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00169 dgv427e1 11 98575697 98717492 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18995,esv849 M 271 0 0 CNTN5 NA12005 esv1003185 11 98592227 98593206 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586711 S 3 1 0 CNTN5 HuRef nsv8866 11 98617056 98625338 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22531 S 31 0 1 Samples from several populations that are part of the HapMap project. CNTN5 NA19240 nsv898274 11 98618121 98665712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567974 S 6533 0 1 CNTN5 IS31179 nsv898275 11 98631226 99562746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553963 S 6533 1 0 CNTN5 MS20459 esv271810 11 98645616 98645873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508799,essv2493754,essv2505260,essv2500914,essv2505981,essv2509213,essv2499163,essv2499729,essv2512195,essv2501843,essv2498128 M 157 11 0 Samples from several populations that are part of the HapMap project. CNTN5 NA12878,NA18517,NA18853,NA18856,NA18861,NA18909,NA19114,NA19225,NA19238,NA19239,NA19240 esv273225 11 98645623 98645964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582065,essv2584023,essv2584442,essv2583731 M 7 4 0 Samples from several populations that are part of the HapMap project. CNTN5 NA12878,NA19238,NA19239,NA19240 nsv521600 11 98665712 98689812 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698217 S 2026 1 0 CNTN5 dgv428e1 11 98674719 98707009 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5971,essv1710 M 271 0 0 CNTN5 NA18552,NA18968 dgv429e1 11 98679357 98691890 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2924,essv19129 M 271 0 0 CNTN5 NA12044,NA19007 nsv519381 11 98689812 98706527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696823 S 2026 0 1 CNTN5 esv23115 11 98690591 98692173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14442 S 451 0 4 CNTN5 NA06985,NA11931,NA12006,NA12044 nsv826051 11 98690629 98691917 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428574,nssv1422838 M 31 0 2 CNTN5 NA18552,NA18968 dgv430e1 11 98690633 98707009 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18475,essv23158 M 271 0 0 CNTN5 NA10831,NA11832 nsv898276 11 98742514 98776535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580125 S 6533 0 1 CNTN5 IS35229 nsv898277 11 98742514 99218429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521833 S 6533 1 0 CNTN5 SP52599 esv1754839 11 98745169 98745169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686949 S 2 1 0 CNTN5 HuRef dgv1292n71 11 98767461 98903648 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898278,nsv898283,nsv898282,nsv898279,nsv898284,nsv898285 M 6533 0 6 CNTN5 IS31041,IS31137,IS35100,MS10802,MS19634,MS22104 nsv526809 11 98773827 98775443 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703163 S 2026 1 0 CNTN5 esv2466796 11 98781159 98782722 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254492 S 1 0 1 CNTN5 NA18507 esv2209043 11 98781359 98782037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685965 S 1 0 1 CNTN5 NA18507 esv4356 11 98781455 98782033 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26797 S 1 0 1 Single Asian sample YH CNTN5 YH esv7509 11 98781545 98781876 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29950 S 1 0 1 CNTN5 SJK esv1322572 11 98781548 98781888 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963821 S 2 0 1 CNTN5 HuRef nsv468828 11 98796904 98835621 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543899 S 1557 0 1 CNTN5 1780854061_A nsv898280 11 98796904 98848394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542306 S 6533 0 1 CNTN5 MS15749 dgv1293n71 11 98796904 98866157 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898288,nsv898281,nsv898293,nsv898289,nsv898294 M 6533 0 15 CNTN5 IS30432,IS31054,IS33616,IS34489,IS34856,IS35236,IS35549,IS35742,IS36787,MS13292,MS13727,MS15199,MS18978,MS21470,MS25751 dgv1294n71 11 98809022 98842199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898291,nsv898286,nsv898290 M 6533 0 5 CNTN5 IS31602,IS39090,IS39119,MS18830,MS25241 dgv1295n71 11 98809022 98848394 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv898287,nsv898292 M 6533 2 4 CNTN5 IS31205,IS34748,IS37226,IS41128,IS41189,MS20361 dgv1296n71 11 98812730 98893095 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898296,nsv898295 M 6533 0 6 CNTN5 IS31546,IS32615,IS39011,MS17114,MS18847,MS20872 nsv468829 11 98814218 98848394 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543900 S 1557 0 1 CNTN5 1780854436_A nsv468830 11 98814218 98892027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543901 S 1557 0 1 CNTN5 1780862459_A nsv468831 11 98826953 98842199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543902 S 1557 0 1 CNTN5 1780854477_A nsv522201 11 98827908 98835621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694974 S 2026 0 1 CNTN5 nsv526736 11 98834366 98835621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703079 S 2026 0 1 CNTN5 nsv898297 11 98875694 98930610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545895 S 6533 0 1 CNTN5 MS17028 esv5885 11 98937612 98937715 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28326 S 1 1 0 CNTN5 SJK esv1223158 11 98937665 98937665 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855428 S 2 1 0 CNTN5 HuRef nsv507610 11 98971907 98977907 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619054 S 4 1 0 CNTN5 NA10860 nsv898298 11 98989012 99002515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567687 S 6533 0 1 CNTN5 IS31137 nsv526965 11 98992656 99002515 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703337 S 2026 1 0 CNTN5 nsv468832 11 98993821 99007288 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543903 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00781 dgv1297n71 11 98993821 99010880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898300,nsv898299 M 6533 0 2 CNTN5 MS10802,MS15749 nsv818860 11 98994224 98998635 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416480,nssv1416481 M 112 0 2 CNTN5 NA18515,NA18517 nsv468833 11 98994224 99002515 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543904 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP01237 nsv468834 11 98995656 99005948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543905 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP01236 nsv525366 11 98995656 99010880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701486 S 2026 0 1 CNTN5 esv24648 11 98996184 99017849 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15587,esv19013 M 451 15 0 CNTN5 NA07045,NA11993,NA11995,NA12004,NA12287,NA12776,NA12878,NA18502,NA18508,NA18511,NA18861,NA18907,NA19099,NA19147,NA19225 nsv821270 11 98996395 98997170 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420956 S 1 0 1 CNTN5 NA10851 esv998217 11 98996620 99007132 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586205 S 3 1 0 CNTN5 HuRef esv270060 11 99008076 99011004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499441,essv2508769,essv2500049,essv2508262,essv2511337,essv2508183,essv2499310,essv2511622,essv2504892,essv2503135,essv2497883,essv2500797,essv2510886 M 157 13 0 Samples from several populations that are part of the HapMap project. CNTN5 NA12044,NA18532,NA18558,NA18561,NA18570,NA18579,NA18605,NA18940,NA18942,NA18943,NA18945,NA18973,NA19116 dgv168n27 11 99029544 99071992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468836,nsv468837,nsv468835 M 1557 0 3 CNTN5 1780862416_A,1780862587_A,1798860361_A nsv519340 11 99029544 99071992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658944,nssv655497,nssv671258,nssv677420 M 2026 0 4 CNTN5 dgv1298n71 11 99075724 99103335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898302,nsv898301 M 6533 0 18 CNTN5 IS38006,IS38269,MS10666,MS10682,MS11537,MS12986,MS14330,MS14683,MS17642,MS17865,MS18226,MS18946,MS22154,MS22499,MS22741,MS22789,MS24839,MS25839 nsv522053 11 99079081 99085406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694823 S 2026 0 1 CNTN5 nsv520862 11 99083719 99085406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697655 S 2026 0 1 CNTN5 nsv898303 11 99091037 99114887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522180 S 6533 1 0 CNTN5 SP52787 nsv517898 11 99103335 99104665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695307 S 2026 0 1 CNTN5 nsv454 11 99106885 99140039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8953 S 9 1 0 CNTN5 NA12156 dgv1299n71 11 99119111 99252486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898308,nsv898309,nsv898304,nsv898305 M 6533 0 4 CNTN5 IS31044,IS31373,IS33533,IS34962 nsv898306 11 99124608 99317102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532684 S 6533 0 1 CNTN5 MS10802 dgv1300n71 11 99130968 99209253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898310,nsv898307 M 6533 0 2 CNTN5 IS37974,MS13292 nsv468842 11 99134182 99156043 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543910 S 1557 0 1 CNTN5 1780862310_A nsv826052 11 99142659 99143149 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428585 S 31 0 1 CNTN5 NA18968 nsv468843 11 99150578 99197414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543911 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00768 esv2421944 11 99152896 99160002 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5119014,essv5081808,essv5036220,essv5138867,essv5127559,essv5042273,essv5153012,essv5022998,essv5085417,essv5126992,essv5002033,essv5051610,essv5140162,essv5093999,essv5103553,essv5026158,essv5119453,essv5114836,essv5135823,essv5124241,essv5015313 M 1184 0 21 CNTN5 NA12342,NA17965,NA17979,NA17983,NA18102,NA18127,NA18159,NA18524,NA18546,NA18557,NA18559,NA18599,NA18605,NA18623,NA18632,NA18702,NA18954,NA18975,NA18993,NA19058,NA19083 nsv528690 11 99154024 99160002 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705333 S 2026 0 1 CNTN5 esv2438747 11 99195023 99195429 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317973 S 1 1 0 CNTN5 NA18507 nsv826054 11 99195039 99195648 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430813 S 31 0 1 CNTN5 AK16 esv1004847 11 99195057 99196958 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564631 S 3 1 0 CNTN5 HuRef nsv819915 11 99195066 99195593 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418983 S 2 0 1 CNTN5 AK1 esv1010482 11 99195223 99195849 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586995 S 3 1 0 CNTN5 HuRef nsv826055 11 99195223 99195849 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426946,nssv1441358,nssv1431540,nssv1436916,nssv1429303,nssv1427726,nssv1436081 M 31 0 7 CNTN5 AK12,AK18,AK6,AK8,NA18542,NA18566,NA18969 nsv513331 11 99195392 99195498 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625721 S 1 1 0 CNTN5 1 esv274186 11 99234464 99234910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580942,essv2579731 M 7 2 0 Samples from several populations that are part of the HapMap project. CNTN5 NA19238,NA19240 esv267431 11 99234595 99234921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576016,essv2521133,essv2526209,essv2544209,essv2556485,essv2523485,essv2577249,essv2570526,essv2548350,essv2535400,essv2547579,essv2577733,essv2520081,essv2537059,essv2542839,essv2565188,essv2556323,essv2528103,essv2526902,essv2538632,essv2571278,essv2574338,essv2536319 M 157 23 0 Samples from several populations that are part of the HapMap project. CNTN5 NA06986,NA11830,NA11894,NA11918,NA11992,NA11994,NA12004,NA12043,NA12044,NA12045,NA12249,NA12717,NA12761,NA12815,NA18517,NA18550,NA18558,NA18871,NA18907,NA19005,NA19108,NA19238,NA19240 nsv832243 11 99239748 99438250 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449441 S 95 1 0 CNTN5 nsv898311 11 99262625 99291787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513344 S 6533 0 1 CNTN5 SP55747 dgv1301n71 11 99271758 99320842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898312,nsv898314 M 6533 0 5 CNTN5 IS36244,MS12827,MS22104,MS23290,SP57367 nsv468844 11 99275428 99297546 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543912 S 1557 0 1 CNTN5 1780862312_A nsv898313 11 99277190 99295098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541444 S 6533 0 1 CNTN5 MS15312 dgv431e1 11 99309814 99358487 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22685,esv1274 M 271 0 0 CNTN5 NA12004 essv19298 11 99324506 99357622 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN5 NA07022 nsv898315 11 99337767 99357365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526714 S 6533 0 1 CNTN5 SP57730 essv12429 11 99348596 99358487 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN5 NA19152 esv272105 11 99388257 99389657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501531 S 157 1 0 Samples from several populations that are part of the HapMap project. CNTN5 NA19093 dgv1302n71 11 99391536 99457826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898317,nsv898316 M 6533 0 2 CNTN5 IS33558,IS34856 nsv526847 11 99393600 99404124 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703205 S 2026 1 0 CNTN5 nsv468845 11 99393600 99440848 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543913 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP01262 nsv469985 11 99398492 99428851 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546215 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00984 nsv898318 11 99428851 99472494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564146 S 6533 0 1 CNTN5 IS30171 nsv456 11 99432803 99465954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1033 S 9 1 0 CNTN5 NA19240 nsv468846 11 99514208 99541501 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543914 S 1557 0 1 CNTN5 NINDS_103 esv1010651 11 99525454 99532731 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565196 S 3 0 1 CNTN5 HuRef nsv468847 11 99546630 99562746 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543915 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00112 nsv898319 11 99546630 99587090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556266,nssv1578330 M 6533 0 2 CNTN5 IS34758,MS21868 nsv469986 11 99548630 99577928 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546216 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN5 HGDP00947 dgv1303n71 11 99548630 99599622 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898320,nsv898321 M 6533 0 3 CNTN5 IS35516,IS41193,IS41955 nsv832244 11 99589039 99722240 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449442 S 95 0 1 CNTN5 nsv457 11 99623248 99653631 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1957 S 9 1 0 CNTN5 NA18555 nsv832245 11 99643858 99782039 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449443 S 95 1 0 CNTN5 nsv468848 11 99651302 99694892 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543916 S 1557 0 1 CNTN5 NINDS_125 nsv520995 11 99669167 100186421 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697727 S 2026 1 0 ARHGAP42,CNTN5 nsv522847 11 99678598 99678704 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698500 S 2026 1 0 CNTN5 dgv1304n71 11 99781843 99910616 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898325,nsv898324,nsv898323,nsv898322 M 6533 0 8 "" IS30493,SP50832,SP50857,SP51175,SP52364,SP55462,SP56064,SP80994 nsv458 11 99804638 99849629 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8954 S 9 0 1 "" NA12156 esv259614 11 99875783 99876207 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393677,essv2394288 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv259886 11 99901939 99902546 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400050,essv2395657,essv2397413,essv2399462 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA18501,NA18566,NA18858 nsv832246 11 99931935 100112167 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449444 S 95 1 0 ARHGAP42 nsv459 11 99942414 99987163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8955 S 9 0 1 "" NA12156 esv2872 11 99943780 99944195 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25313 S 1 0 1 Single Asian sample YH "" YH nsv898326 11 99952668 99986861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519002,nssv1499253 M 6533 0 2 "" SP50058,SP80928 nsv826056 11 100045572 100049689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426023 S 31 1 0 "" AK4 nsv826057 11 100072579 100073238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431541 S 31 0 1 ARHGAP42 AK18 nsv898327 11 100074231 100136285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557252 S 6533 0 1 ARHGAP42 MS22524 nsv38828 11 100155522 100155522 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57406 M 24 ARHGAP42 nsv460 11 100166501 100199026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5374 S 9 1 0 ARHGAP42 NA19129 nsv468849 11 100218437 100238330 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543917 S 1557 0 1 ARHGAP42 1780854117_A esv2529193 11 100286040 100287081 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174499 S 1 1 0 ARHGAP42 NA18507 esv273001 11 100286563 100286910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580084,essv2579016 M 7 2 0 Samples from several populations that are part of the HapMap project. ARHGAP42 NA12878,NA19239 esv267405 11 100286572 100286908 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558021,essv2546387,essv2521189,essv2556607,essv2545308,essv2531847,essv2577371,essv2525385,essv2544360,essv2552300,essv2520544,essv2547493,essv2529074,essv2577762,essv2553900,essv2559704,essv2565295,essv2576370,essv2530583,essv2537396,essv2528241,essv2546888,essv2530517,essv2552673,essv2550018,essv2539154,essv2542122,essv2569072,essv2528058,essv2562408,essv2575509,essv2575362,essv2538799,essv2560779,essv2537992,essv2548873,essv2563556 M 157 37 0 Samples from several populations that are part of the HapMap project. ARHGAP42 NA07000,NA07037,NA10847,NA10851,NA11881,NA11894,NA11994,NA12003,NA12006,NA12043,NA12156,NA12414,NA12489,NA12716,NA12717,NA12749,NA12761,NA12763,NA12776,NA12812,NA12814,NA12873,NA12878,NA12891,NA12892,NA18486,NA18502,NA18511,NA18519,NA18856,NA18861,NA18907,NA18909,NA19099,NA19102,NA19108,NA19116 esv990975 11 100286592 100286592 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574971 S 3 1 0 ARHGAP42 HuRef esv1333643 11 100286603 100286603 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794555 S 2 1 0 ARHGAP42 HuRef esv268466 11 100360290 100360631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519298,essv2515289,essv2518063 M 157 3 0 Samples from several populations that are part of the HapMap project. ARHGAP42 NA11894,NA12249,NA12872 nsv518618 11 100373856 100379529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696066 S 2026 0 1 "" nsv522843 11 100374171 100383708 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698496 S 2026 1 0 "" nsv517236 11 100375704 100379529 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668094,nssv683774,nssv690208,nssv686049,nssv674768,nssv704841,nssv654091,nssv661755,nssv664682,nssv674870,nssv688969,nssv679969,nssv653205,nssv668970 M 2026 1 13 "" nsv826058 11 100413568 100414089 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422060 S 31 0 1 PGR NA18997 esv272143 11 100416973 100417301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546478,essv2526095,essv2542377,essv2522721,essv2568370,essv2532015,essv2550609,essv2520454,essv2558673,essv2554813,essv2530820,essv2561792,essv2539805,essv2536149,essv2537941,essv2547705 M 157 16 0 Samples from several populations that are part of the HapMap project. PGR NA06986,NA07000,NA07347,NA11881,NA11918,NA11919,NA11931,NA11995,NA12006,NA12155,NA12716,NA12750,NA12872,NA12873,NA12874,NA18563 nsv826059 11 100427678 100428657 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422061 S 31 0 1 PGR NA18997 nsv898328 11 100499056 100515143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510867 S 6533 0 1 PGR SP54988 esv259581 11 100553794 100554061 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393881,essv2393866,essv2393675,essv2394009,essv2394347 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 esv259782 11 100553805 100554074 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396761,essv2401121,essv2396229,essv2396274,essv2400761,essv2399194,essv2401107,essv2396946,essv2395661,essv2396536,essv2394886,essv2396359,essv2395975,essv2397018,essv2400541 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11931,NA12006,NA12716,NA12717,NA12776,NA12891,NA12892,NA18501,NA18517,NA18942,NA19138,NA19238,NA19239,NA19240 nsv509440 11 100573075 100644283 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620871 S 4 1 0 "" NA15510 esv6755 11 100576753 100576853 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29196 S 1 1 0 "" SJK esv29393 11 100577808 100579256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13445 S 451 0 1 "" NA18909 nsv516828 11 100578015 100578882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658866,nssv657608,nssv690474,nssv654279,nssv688062 M 2026 0 5 "" esv1649953 11 100622225 100622278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299549 S 2 0 1 "" HuRef nsv832247 11 100628693 100803997 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449445 S 95 1 0 "" nsv898329 11 100658171 100723304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554334 S 6533 0 1 "" MS20741 nsv898330 11 100748854 101227241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572482 S 6533 1 0 MIR3920,TRPC6 IS33073 nsv38688 11 100762083 100762083 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57266 M 24 "" esv2626366 11 100763804 100765284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267098 S 1 0 1 "" NA18507 nsv468851 11 100773657 100836017 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543918 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRPC6 HGDP01198 esv1692349 11 100781827 100781827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807144 S 2 1 0 "" HuRef esv1781957 11 100795220 100795544 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3755226 S 2 0 1 "" HuRef esv2435045 11 100803185 100804880 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278346 S 1 0 1 "" NA18507 esv2104024 11 100875567 100876098 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587601 S 1 0 1 TRPC6 NA18507 nsv468852 11 100909855 100941899 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543919 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRPC6 HGDP00438 nsv519281 11 100909855 100941899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673984,nssv655203 M 2026 2 0 TRPC6 esv2586580 11 100921731 100923336 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296967 S 1 0 1 TRPC6 NA18507 esv2037840 11 100921791 100922515 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4871564 S 1 0 1 TRPC6 NA18507 esv3066 11 100921897 100922391 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25507 S 1 0 1 Single Asian sample YH TRPC6 YH esv1005678 11 100921988 100922317 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567445 S 3 0 1 TRPC6 HuRef esv1637667 11 100921994 100922324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702357 S 2 0 1 TRPC6 HuRef esv1440726 11 100934334 100934334 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358088 S 2 1 0 TRPC6 HuRef nsv898331 11 100941899 100997840 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521298 S 6533 1 0 TRPC6 SP52329 nsv507611 11 100944105 100950105 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619055 S 4 1 0 TRPC6 NA10860 esv1707797 11 101004832 101004832 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011176 S 2 1 0 "" HuRef nsv461 11 101039317 101089214 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1958,nssv1034,nssv6478,nssv9274,nssv10835,nssv3985,nssv5375 M 9 0 7 "" NA12156,NA12878,NA18517,NA18555,NA18956,NA19129,NA19240 nsv468853 11 101044618 101121906 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543920 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01258 nsv469987 11 101052933 101115590 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546217 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01258 nsv508653 11 101054071 101079261 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619987 S 4 0 1 "" NA15510 nsv511007 11 101054071 101102006 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618619 S 4 0 0 "" CHM nsv74 11 101065750 101113874 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv74 S 1 0 1 "" NA15510 nsv898332 11 101067214 101237776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519271 S 6533 1 0 "" SP80992 esv1004091 11 101069707 101081595 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564188 S 3 0 1 "" HuRef nsv435921 11 101070710 101080620 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466668 S 2 0 1 "" NA15510 esv2424668 11 101070865 101080605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173846 S 1 0 1 "" NA18507 esv1277327 11 101071326 101079824 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365330 S 2 0 1 "" HuRef nsv832249 11 101077029 101254283 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449447,nssv1449446 M 95 1 1 "" nsv527220 11 101096401 101115590 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703620 S 2026 1 0 "" esv2421600 11 101103070 101103174 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5140089,essv5104405,essv5105994,essv5110475,essv5025235,essv5016202,essv5038170,essv5022576,essv5018243,essv5068580,essv5145073,essv5132924,essv5059745,essv5124046,essv5155660,essv5131828,essv5058287,essv5020809,essv5040597,essv5004531,essv5127429,essv5053882,essv5150339,essv5002930,essv5012189,essv5065175,essv5080780,essv5029602,essv5142915,essv5107692,essv5031889,essv5106044,essv5088583,essv5027893,essv5027963,essv5013969,essv5034321,essv5005464,essv5017182,essv5004267,essv5002427,essv5039012,essv5140914,essv5051641,essv5009681,essv5032480,essv5017834,essv5154360,essv5023713,essv5042786,essv5016522,essv5143587,essv5037116,essv5109718,essv5028892,essv5137184,essv5023663,essv5040260,essv5154849,essv5010908,essv5031269,essv5063698,essv5078650,essv5051767,essv5054862,essv5117064,essv5147990,essv5139642,essv5083746,essv5101721,essv5097669,essv5052313,essv5064869,essv5052685,essv5035898,essv5101711,essv5009285,essv5004474,essv5160356,essv5145412,essv5116362,essv5158593,essv5043123,essv5094470,essv5051430,essv5046666,essv5127555,essv5083504,essv5009936,essv5097534,essv5131433,essv5018354,essv5067665,essv5017503,essv5110006,essv5018532,essv5020075,essv5110848,essv5128931,essv5125620,essv5035753,essv5011434,essv5007376,essv5100399,essv5041565,essv5101607,essv5117726,essv5040275,essv5110512,essv5143003,essv5156499,essv5122036,essv5057633,essv5063823,essv5008847,essv5063773,essv5031822,essv5160168,essv5040764,essv5106940,essv5100638,essv5144412,essv5151720,essv5125850,essv5026211,essv5055234,essv5093411,essv5023480,essv5027087,essv5031158,essv5048926,essv5091747,essv5079967,essv5033814,essv5099404,essv5070369,essv5122567,essv5148625,essv5009860,essv5142619,essv5036749,essv5070419,essv5124424,essv5051504,essv5063524,essv5105949,essv5120737,essv5024143,essv5068154,essv5079995,essv5051636,essv5103435,essv5021297,essv5088894,essv5074444,essv5059760,essv5016581,essv5041598,essv5050857,essv5127769,essv5109749,essv5145092,essv5083381,essv5013493,essv5086092,essv5049484,essv5024961,essv5013864,essv5101575,essv5020031,essv5101042,essv5148057,essv5061754,essv5105447,essv5039711,essv5129063,essv5064433,essv5035371,essv5040037,essv5114361,essv5032684,essv5152922,essv5014771,essv5093074,essv5127472,essv5146803,essv5059978,essv5120903,essv5156060,essv5087948,essv5046958,essv5005640,essv5103210,essv5130220,essv5095360,essv5051084,essv5149551,essv5084686,essv5021752,essv5002670,essv5145890,essv5039508,essv5131959,essv5095519,essv5125317,essv5029285,essv5006775,essv5151983,essv5116914,essv5137763,essv5040199,essv5031220,essv5124753,essv5085096,essv5018077,essv5138825,essv5085407,essv5157767,essv5011691,essv5097617,essv5153349,essv5016824,essv5109655,essv5091063,essv5087500,essv5014762,essv5157292,essv5089970,essv5002002,essv5097141,essv5142872,essv5094616,essv5121914,essv5120756,essv5151038,essv5118610,essv5121906,essv5018238,essv5060504,essv5093365,essv5032409,essv5148819,essv5035290,essv5073567,essv5110507,essv5137725,essv5090917,essv5020132,essv5039708,essv5025437,essv5032899,essv5014570,essv5064431,essv5032478,essv5132138,essv5044044,essv5139491,essv5115859,essv5023932,essv5120187,essv5093037,essv5118121,essv5097075,essv5126186,essv5040322,essv5100157,essv5159671,essv5121492,essv5127663,essv5078018,essv5057458,essv5140262,essv5108939,essv5050037,essv5014788,essv5058503,essv5045728,essv5036204,essv5106358,essv5020266,essv5043151,essv5141753,essv5057992,essv5076174,essv5060425,essv5014144,essv5144878,essv5108413,essv5016886,essv5063018,essv5062686,essv5110365,essv5127101,essv5017716,essv5051675,essv5067133,essv5025731,essv5064971,essv5062593,essv5086188,essv5100719,essv5072703,essv5070467,essv5141187,essv5073092,essv5141842,essv5015281,essv5059936,essv5097676,essv5057901,essv5095395,essv5034444,essv5160936,essv5087552,essv5037499,essv5049123,essv5083164,essv5074333,essv5137935,essv5044223,essv5016961,essv5083852,essv5030763,essv5043763,essv5089886,essv5135769,essv5040073,essv5025980,essv5108909,essv5141364,essv5044390,essv5049941,essv5054375,essv5155725,essv5055865,essv5086118,essv5108585,essv5036368,essv5106178,essv5076538,essv5058579,essv5121087,essv5044027,essv5042688,essv5053616,essv5107009,essv5104450,essv5086338,essv5031625,essv5090694,essv5058685,essv5012088,essv5042181,essv5098605,essv5111958,essv5096714,essv5078127,essv5087670,essv5079624,essv5144908,essv5125327,essv5062493,essv5053596,essv5121356,essv5146961,essv5134791,essv5014248,essv5042043,essv5093416,essv5032865,essv5039112,essv5074684,essv5026533,essv5084441,essv5139195,essv5059190,essv5094845,essv5157703,essv5003729,essv5078721,essv5076801,essv5139964,essv5020812,essv5049690,essv5142214,essv5058488,essv5067908,essv5150634,essv5103231,essv5059161,essv5156102,essv5004793,essv5153169,essv5042509,essv5148068,essv5093165,essv5139224,essv5158832,essv5024815,essv5086244,essv5147733,essv5106012,essv5154274,essv5139387,essv5016464,essv5146287,essv5088021,essv5057539,essv5044357,essv5004046,essv5086094,essv5157182,essv5136181,essv5071278,essv5082690,essv5028265,essv5011200,essv5083700,essv5093274,essv5155911,essv5033556,essv5033452,essv5057945,essv5058157,essv5004910,essv5153966,essv5154132,essv5077507,essv5052519,essv5147593,essv5074513,essv5032024,essv5124039,essv5159734,essv5094032,essv5012610,essv5074141,essv5158336,essv5130799,essv5160117,essv5121778,essv5091904,essv5096238,essv5126673,essv5156399,essv5026050,essv5078963,essv5089126,essv5037479,essv5132387,essv5135081,essv5052163,essv5031003,essv5154014,essv5004819,essv5053405,essv5139509,essv5083305,essv5144477,essv5138190,essv5137100,essv5102270,essv5069667,essv5011061,essv5123288,essv5004777,essv5019686,essv5136164,essv5041764,essv5144010,essv5137449,essv5004614,essv5086046,essv5150688,essv5123445,essv5040233,essv5045777,essv5099081,essv5095758,essv5081752,essv5060128,essv5087129,essv5104778,essv5008812,essv5147595,essv5099997,essv5158963,essv5050298,essv5112695,essv5026260,essv5035048,essv5113467,essv5122057,essv5091468,essv5050793,essv5093312,essv5020344,essv5105992,essv5101388,essv5132293,essv5009511,essv5088486,essv5059274,essv5096390,essv5103602,essv5037582,essv5066298,essv5059060,essv5024295,essv5019687,essv5007097,essv5160462,essv5022423,essv5047758,essv5012719,essv5068240,essv5036680,essv5121947,essv5008405,essv5012464,essv5097255,essv5027175,essv5118841,essv5092043,essv5147452,essv5095774,essv5080508,essv5089111,essv5075100,essv5034333,essv5010477,essv5160784,essv5072172,essv5043883,essv5010087,essv5119096,essv5068752,essv5019001,essv5110932,essv5144543,essv5051968,essv5098201,essv5107797,essv5075614,essv5030778,essv5130197,essv5136379,essv5034634,essv5087754,essv5055320,essv5030525,essv5070596,essv5058868,essv5002138,essv5139584,essv5016002,essv5037699,essv5088100,essv5005633,essv5006094,essv5124390,essv5058846,essv5131589,essv5061121,essv5012021,essv5129215,essv5023228,essv5102414,essv5040063,essv5150095,essv5096436,essv5124286,essv5062072,essv5119399,essv5037099,essv5142103,essv5047781,essv5053842,essv5094382,essv5050860,essv5044136,essv5036563,essv5124765,essv5112158,essv5039450,essv5138574,essv5087916,essv5093084,essv5131203,essv5054269,essv5142993,essv5134642,essv5154765,essv5134267,essv5094711,essv5104007,essv5036864,essv5052209,essv5007450,essv5027221,essv5159795,essv5063832,essv5051812,essv5154641,essv5145387,essv5085008,essv5019336,essv5143944,essv5119801,essv5117607,essv5002816,essv5024925,essv5092039,essv5120483,essv5004249,essv5145053,essv5066064,essv5154364,essv5084453,essv5033316,essv5116055,essv5132986,essv5019476,essv5137261,essv5086848,essv5004113,essv5111025,essv5085702,essv5122610,essv5112949,essv5151417,essv5141343,essv5085826,essv5133000,essv5015128,essv5080917,essv5103875,essv5126637,essv5094036,essv5154324,essv5021179,essv5159077,essv5009462,essv5097355,essv5050212,essv5100535,essv5096057,essv5015094,essv5015460,essv5094075,essv5128888,essv5153685,essv5032645,essv5085561,essv5039052,essv5121964,essv5005556,essv5088657,essv5138260,essv5122911,essv5073216,essv5004788,essv5111310,essv5095281,essv5042291,essv5023502,essv5152441,essv5143987,essv5125599,essv5156409,essv5121426,essv5049442,essv5012659,essv5119459,essv5112310,essv5089586,essv5120305,essv5142825,essv5076279,essv5014010,essv5144830,essv5115681,essv5121399,essv5144701,essv5080741,essv5150032,essv5051607,essv5004098,essv5024796,essv5121445,essv5119834,essv5016351,essv5065338,essv5040947,essv5135547,essv5106631,essv5070180,essv5038397,essv5013310,essv5027261,essv5101715,essv5117757,essv5076203,essv5136000,essv5027915,essv5040568,essv5134366,essv5153301,essv5142158,essv5159844,essv5106000,essv5087612,essv5093809,essv5102461,essv5044295,essv5028279,essv5031498,essv5125708,essv5160107,essv5100279,essv5092958,essv5122060,essv5014597,essv5083782,essv5066252,essv5106613,essv5041805,essv5029080,essv5038166,essv5157026,essv5138409,essv5118048,essv5070161,essv5113346,essv5063008,essv5032374,essv5011147,essv5031792,essv5147064,essv5067595,essv5140208,essv5113422,essv5015957,essv5058695,essv5111520,essv5104368,essv5118424,essv5077793,essv5015885,essv5143227,essv5115165,essv5076643,essv5081998,essv5076147,essv5032689,essv5141169,essv5036206,essv5115312,essv5147433,essv5124974,essv5132769,essv5026088,essv5024829,essv5024218,essv5097596,essv5159207,essv5065041,essv5007466,essv5133907,essv5106849,essv5039613,essv5065236,essv5115444,essv5143143,essv5152360,essv5087099,essv5029627,essv5109678,essv5009048,essv5085654,essv5039081,essv5051328,essv5078511,essv5155577,essv5064400,essv5097136,essv5064805,essv5149308,essv5035230,essv5021393,essv5104206,essv5040004,essv5054246,essv5071052,essv5100720,essv5048058,essv5149110,essv5076196,essv5122054,essv5060287,essv5092942,essv5084733,essv5077502,essv5087544,essv5010464,essv5099922,essv5075686,essv5039990,essv5017091,essv5131033,essv5058573,essv5101973,essv5038080,essv5091370,essv5105388,essv5152183,essv5149242,essv5043028,essv5130217,essv5146670,essv5039989,essv5146353,essv5020170,essv5062204,essv5089845,essv5045960,essv5133199,essv5115094,essv5107769,essv5035772,essv5018689,essv5106501,essv5118124,essv5139118,essv5159116,essv5020657,essv5057355,essv5124033,essv5053360,essv5156779,essv5053546,essv5015521,essv5095116,essv5129297,essv5130149,essv5107382,essv5154008,essv5095020,essv5070353,essv5080322,essv5034858,essv5060641,essv5071967,essv5051628,essv5090727,essv5036645,essv5002518,essv5032672,essv5091821,essv5080354,essv5135236,essv5155161,essv5135047,essv5032009,essv5097219,essv5099802,essv5125070,essv5032288,essv5086413,essv5059558,essv5129224,essv5012672,essv5055559,essv5079807,essv5158522,essv5010059,essv5101885,essv5140748,essv5104178,essv5104682,essv5012056,essv5032341,essv5154898,essv5095446,essv5152008,essv5076917,essv5094131,essv5061162,essv5103962,essv5144754,essv5008653,essv5073428,essv5030616,essv5101570,essv5013052,essv5145406,essv5113362,essv5062388,essv5020675,essv5082724,essv5045065,essv5035932,essv5016632,essv5010720,essv5024826,essv5133987,essv5107723,essv5139715,essv5108804,essv5144056,essv5122419,essv5113472,essv5036811,essv5028428,essv5029208,essv5114874,essv5025461,essv5037498,essv5072652,essv5018191,essv5076650,essv5027668,essv5064401,essv5032380,essv5155989,essv5072315,essv5045067,essv5142226,essv5124591,essv5119714,essv5156902,essv5137740,essv5058186,essv5023417,essv5016906,essv5018637,essv5017709,essv5157702,essv5143433,essv5145857,essv5062473,essv5007048,essv5093153,essv5090070,essv5138416,essv5083386,essv5157457,essv5047158,essv5116727,essv5079878,essv5127610,essv5011391,essv5024411,essv5024187,essv5140247,essv5058971,essv5062613,essv5157527,essv5094756,essv5136667,essv5156718,essv5117860,essv5075295,essv5037393,essv5073811,essv5047121,essv5041344,essv5087027,essv5038245,essv5072686,essv5137421,essv5141695,essv5095285,essv5003297,essv5040624,essv5090141,essv5045694,essv5152420,essv5148402,essv5030154,essv5022987,essv5015933,essv5032424,essv5131624,essv5070433,essv5120549,essv5140360,essv5088761,essv5031128,essv5009167,essv5069511,essv5103164,essv5159275,essv5101919,essv5130017,essv5078082,essv5142444,essv5082687,essv5062970,essv5012188,essv5021624,essv5099267,essv5004038,essv5053716,essv5115295,essv5157474,essv5083480,essv5110996,essv5110638,essv5109875,essv5103798,essv5063287,essv5100499,essv5008796,essv5104627,essv5127917,essv5153694,essv5098483 M 1184 0 1018 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17966,NA17968,NA17970,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17981,NA17986,NA17987,NA17988,NA17989,NA18101,NA18105,NA18107,NA18108,NA18112,NA18118,NA18120,NA18124,NA18128,NA18131,NA18132,NA18133,NA18134,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18149,NA18150,NA18151,NA18153,NA18154,NA18155,NA18156,NA18159,NA18162,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18529,NA18532,NA18534,NA18536,NA18537,NA18543,NA18555,NA18557,NA18558,NA18559,NA18562,NA18563,NA18566,NA18573,NA18577,NA18582,NA18592,NA18595,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18627,NA18630,NA18632,NA18634,NA18635,NA18636,NA18637,NA18638,NA18641,NA18643,NA18645,NA18685,NA18702,NA18704,NA18740,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18943,NA18947,NA18948,NA18949,NA18951,NA18953,NA18955,NA18959,NA18965,NA18967,NA18968,NA18973,NA18975,NA18978,NA18980,NA18990,NA18991,NA18994,NA18998,NA19000,NA19005,NA19007,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19058,NA19059,NA19063,NA19064,NA19065,NA19077,NA19081,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19656,NA19657,NA19658,NA19660,NA19661,NA19664,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19719,NA19720,NA19721,NA19722,NA19724,NA19725,NA19727,NA19746,NA19749,NA19751,NA19755,NA19757,NA19759,NA19760,NA19761,NA19762,NA19771,NA19773,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20872,NA20873,NA20874,NA20875,NA20876,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21125,NA21141,NA21142,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv832250 11 101123144 101309230 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449448 S 95 1 0 ANGPTL5,KIAA1377 nsv507612 11 101196305 101202305 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617818 S 4 1 0 "" CHM esv268957 11 101242064 101242149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517941 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv469989 11 101295881 101362968 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546218 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1377 HGDP00874 esv2432654 11 101301348 101301944 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185544 S 1 1 0 KIAA1377 NA18507 nsv513332 11 101301553 101301655 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625722 S 1 1 0 KIAA1377 1 esv1725395 11 101301653 101301653 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997620 S 2 1 0 KIAA1377 HuRef nsv898333 11 101337880 101585196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527397 S 6533 1 0 C11orf70,KIAA1377,YAP1 SP58404 esv25710 11 101394037 101399250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18891 S 451 0 1 "" NA18909 nsv527254 11 101466109 101467985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703658 S 2026 0 1 "" nsv832251 11 101517505 101686954 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449449 S 95 0 1 YAP1 esv2524266 11 101571385 101572976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323934 S 1 0 1 YAP1 NA18507 esv269277 11 101674941 101675253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514062,essv2518761,essv2514790,essv2516526,essv2517572,essv2517299,essv2519061,essv2513884 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12045,NA12234,NA12814,NA12878,NA18970,NA19141,NA19143 esv272261 11 101674941 101675253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581363 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2484190 11 101758547 101760093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175657 S 1 0 1 "" NA18507 nsv898334 11 101778094 101858402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527331 S 6533 0 1 TMEM123 SP58355 esv22282 11 101808746 101812691 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11325 S 451 0 2 TMEM123 NA12004,NA12006 nsv469990 11 101840819 101919153 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546219 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MMP7 HGDP00570 nsv468854 11 101841827 101919153 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543921 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MMP7 HGDP00563 esv269822 11 101853494 101853724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503190,essv2506800,essv2511433,essv2504432,essv2505079,essv2507951,essv2512416,essv2508077,essv2502908,essv2510354,essv2495883,essv2503796,essv2493484,essv2508831,essv2500350,essv2510628,essv2494302,essv2504119,essv2509912,essv2496572,essv2496258,essv2493638,essv2494986,essv2498296,essv2508731,essv2500473,essv2503274,essv2497317,essv2494591,essv2497158,essv2499964,essv2508231,essv2499915,essv2504536,essv2507820,essv2506391,essv2500635,essv2494418,essv2500159,essv2507604,essv2512742,essv2508103,essv2508444,essv2509951,essv2496080,essv2499229,essv2501628,essv2507559,essv2505324,essv2505732,essv2507084,essv2495522,essv2511663,essv2497846,essv2503469,essv2493089,essv2505478,essv2500577,essv2503693,essv2495923,essv2495099,essv2502671,essv2512778,essv2505674,essv2501232,essv2504627,essv2506923,essv2510830,essv2509564,essv2499727,essv2512028,essv2501898,essv2498041,essv2502279,essv2503598,essv2495799,essv2511533,essv2504382,essv2499578,essv2513034 M 157 80 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA07347,NA07357,NA10847,NA11881,NA11918,NA11920,NA11993,NA11995,NA12003,NA12043,NA12045,NA12156,NA12414,NA12489,NA12761,NA12763,NA12878,NA12891,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18517,NA18520,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18638,NA18853,NA18861,NA18870,NA18916,NA18940,NA18945,NA18947,NA18951,NA18952,NA18956,NA18960,NA18961,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19116,NA19129,NA19225,NA19238,NA19239,NA19240,NA19257 esv273171 11 101853508 101853739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581900,essv2582354,essv2583934,essv2584791,essv2583333 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1037157 11 101853536 101853536 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022462 S 2 1 0 "" HuRef esv270689 11 101858751 101859599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516590 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv270643 11 101875149 101875337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508922,essv2509257,essv2507334,essv2506478,essv2493568 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18909,NA18912,NA19108,NA19137 nsv507613 11 101881288 101887288 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620372 S 4 1 0 "" NA15510 nsv826060 11 101920166 101930539 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438349 S 31 0 1 "" NA18951 nsv818861 11 101921069 101929100 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417412 S 112 0 1 "" NA18951 nsv462 11 101943881 101976567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1035 S 9 1 0 MMP20 NA19240 nsv832252 11 101950689 102133089 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449452,nssv1449450 M 95 2 0 MMP20,MMP27,MMP8 nsv826061 11 101954567 101955130 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441359 S 31 0 1 MMP20 NA18969 esv7543 11 101977097 101977378 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29984 S 1 0 1 MMP20 SJK esv33374 11 101982627 101985050 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93675 S 51 0 1 MMP20 21972 nsv507614 11 101985050 101991050 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617819,nssv623020 M 4 2 0 MMP20 CHM,NA18994 esv33621 11 101993365 101994331 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98797 S 51 0 1 MMP20 21606 esv273399 11 102030646 102031010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580246,essv2580017 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv268527 11 102030659 102030997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565709,essv2546161,essv2522770,essv2570902,essv2556466,essv2548571,essv2552125,essv2520156,essv2546726,essv2520744,essv2544587,essv2552775,essv2542903,essv2540440,essv2534852,essv2519775,essv2560161,essv2531028,essv2528943,essv2572540,essv2559368,essv2550863,essv2568848,essv2556206,essv2555404,essv2533668,essv2555501,essv2573977,essv2556019,essv2522653,essv2526978,essv2568623,essv2549808,essv2571399,essv2574454,essv2554522 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11829,NA11881,NA11931,NA11993,NA11994,NA12045,NA12489,NA12815,NA12892,NA18498,NA18526,NA18542,NA18550,NA18552,NA18561,NA18566,NA18570,NA18573,NA18579,NA18609,NA18638,NA18858,NA18861,NA18871,NA18943,NA18944,NA18945,NA18951,NA18956,NA18960,NA19005,NA19147,NA19225,NA19238,NA19240 nsv819435 11 102080678 102081800 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419178 S 2 0 1 MMP27 AK1 esv2645106 11 102106858 102107451 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305589 S 1 1 0 "" NA18507 nsv38595 11 102106862 102106983 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57173 M 24 "" esv4567 11 102106985 102107228 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27008 S 1 0 1 Single Asian sample YH "" YH esv1029705 11 102107062 102107062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321111 S 2 1 0 "" HuRef esv997658 11 102107110 102109041 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564539 S 3 1 0 "" HuRef esv1442983 11 102107282 102107282 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767339 S 2 1 0 "" HuRef nsv463 11 102116195 102149140 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1959 S 9 1 0 MMP10 NA18555 nsv898335 11 102187495 102371368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524033 S 6533 0 1 LOC100288077,MMP12,MMP13,MMP3 SP54802 esv1277207 11 102204786 102204848 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187889 S 2 0 1 LOC100288077 HuRef esv1010986 11 102204795 102204856 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574909 S 3 0 1 LOC100288077 HuRef nsv898336 11 102215917 102221478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499229 S 6533 0 1 MMP3 SP50649 esv2578918 11 102235552 102237066 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301033 S 1 0 1 "" NA18507 nsv820337 11 102256275 102258143 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420959 S 1 0 1 "" NA10851 nsv826062 11 102256275 102258143 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433077,nssv1426024,nssv1436082,nssv1428596,nssv1434620,nssv1426947,nssv1441360,nssv1427727 M 31 0 8 "" AK4,AK6,AK8,NA18566,NA18570,NA18968,NA18969,NA18972 nsv819253 11 102256287 102258179 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419353 S 2 1 0 "" AK1 esv24635 11 102256455 102257975 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18489,esv10337 M 451 10 3 "" NA07037,NA11995,NA12004,NA12006,NA12044,NA12239,NA12414,NA18505,NA18511,NA18909,NA18916,NA19225,NA19240 nsv516310 11 102288920 102290592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667491,nssv688417 M 2026 0 2 "" nsv464 11 102297984 102330509 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10836 S 9 1 0 MMP13 NA18956 nsv465 11 102302577 102347426 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8956 S 9 0 1 MMP13 NA12156 esv2587096 11 102332700 102334093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196232 S 1 0 1 "" NA18507 nsv832253 11 102351133 102546608 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449453 S 95 1 0 DCUN1D5,DYNC2H1 nsv468855 11 102442889 102561890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543922 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DCUN1D5,DYNC2H1 HGDP01348 dgv1305n71 11 102462262 102754440 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898337,nsv898339 M 6533 0 2 DCUN1D5,DYNC2H1 IS35083,MS17114 esv269955 11 102484254 102484388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511916,essv2510602,essv2493297,essv2494794,essv2505179,essv2494053,essv2513400,essv2501374,essv2496939,essv2499802,essv2501808,essv2498038,essv2502122 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18504,NA18519,NA18853,NA18871,NA18907,NA19093,NA19190,NA19225,NA19239,NA19240,NA19257 esv272211 11 102484295 102484560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580236,essv2580478,essv2579844 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 dgv1306n71 11 102503586 102656542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898340,nsv898338 M 6533 0 3 DYNC2H1 IS31849,MS15199,SP54030 nsv826063 11 102530253 102629264 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441361 S 31 0 1 DYNC2H1 NA18969 dgv432e1 11 102541001 102720677 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1243,essv5763 M 271 0 0 DYNC2H1 NA18540 nsv523713 11 102549248 102561890 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699526 S 2026 1 0 DYNC2H1 esv270902 11 102553642 102554074 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493470 S 157 1 0 Samples from several populations that are part of the HapMap project. DYNC2H1 NA12763 dgv1307n71 11 102582066 102661682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898342,nsv898341 M 6533 0 2 DYNC2H1 IS41094,SP57314 esv2750977 11 102587768 103430000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987711,essv6984910,essv6984909,essv6987712,essv6984911 M 771 1 0 DDI1,DYNC2H1,MIR4693,PDGFD SPC_193 esv2508457 11 102592253 102593705 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221162 S 1 0 1 DYNC2H1 NA18507 esv2151015 11 102592954 102593499 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728482 S 1 0 1 DYNC2H1 NA18507 esv4269 11 102593056 102593380 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26710 S 1 0 1 Single Asian sample YH DYNC2H1 YH esv2464518 11 102593141 102593296 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378202 S 1 0 1 DYNC2H1 NA18507 nsv39433 11 102593155 102593310 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58011 M 24 DYNC2H1 nsv521204 11 102605727 102803176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697843 S 2026 0 1 DYNC2H1 esv995312 11 102635972 102635972 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579036 S 3 1 0 DYNC2H1 HuRef esv33410 11 102646923 102656077 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99625 S 51 0 1 DYNC2H1 22217 nsv898343 11 102663488 102839853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532270 S 6533 0 1 DYNC2H1 MS10737 nsv898344 11 102668044 102729328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517761 S 6533 0 1 DYNC2H1 SP57367 esv268015 11 102706459 102706795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557966,essv2540783,essv2571661,essv2546365,essv2521389,essv2525957,essv2542523,essv2536610,essv2543955,essv2571027,essv2556669,essv2568124,essv2523486,essv2570710,essv2548550,essv2576817,essv2550763,essv2525212,essv2550480,essv2535233,essv2554322,essv2552111,essv2520331,essv2547405,essv2558535,essv2564382,essv2577911,essv2553817,essv2559612,essv2576422,essv2563956,essv2555063,essv2561819,essv2537374,essv2528286,essv2546954,essv2540168,essv2551668,essv2558871,essv2544989,essv2562884,essv2523672,essv2524581,essv2565128,essv2560957,essv2549479,essv2522191,essv2566000,essv2532720,essv2528945,essv2570058,essv2563563,essv2535595,essv2572528,essv2559050,essv2566867,essv2568929,essv2562314,essv2533675,essv2529912,essv2555911,essv2534336,essv2531643,essv2573672,essv2543098,essv2529439,essv2575558,essv2575247,essv2526558,essv2530190,essv2536182,essv2538171,essv2533084,essv2554583,essv2547756,essv2525160,essv2563110 M 157 77 0 Samples from several populations that are part of the HapMap project. DYNC2H1 NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12004,NA12044,NA12045,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18504,NA18516,NA18526,NA18532,NA18537,NA18555,NA18558,NA18562,NA18564,NA18571,NA18572,NA18576,NA18579,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18861,NA18909,NA18944,NA18949,NA18956,NA18959,NA18961,NA18964,NA18965,NA19093,NA19099,NA19102,NA19114,NA19141 esv274687 11 102706459 102706795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581843,essv2582294,essv2583134 M 7 3 0 Samples from several populations that are part of the HapMap project. DYNC2H1 NA12878,NA12891,NA12892 esv27587 11 102772968 102810496 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13810 S 451 3 0 DYNC2H1 NA12004,NA12828,NA12878 esv988655 11 102868194 102874581 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564629 S 3 0 1 "" HuRef esv23065 11 102874793 102899422 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13116 S 451 1 0 "" NA18909 nsv516744 11 102885973 102897552 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661136,nssv674789,nssv670580,nssv690881,nssv678661,nssv692050,nssv691618 M 2026 0 7 "" esv2566266 11 102915149 102916803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333840 S 1 0 1 "" NA18507 esv2055486 11 102915839 102916549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929152 S 1 0 1 "" NA18507 esv4073 11 102916012 102916543 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26514 S 1 0 1 Single Asian sample YH "" YH esv992452 11 102916032 102916344 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573605 S 3 0 1 "" HuRef dgv6e197 11 102916032 102916354 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2537834,esv2636784 M 1 0 1 "" NA18507 esv5953 11 102916034 102916346 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28394 S 1 0 1 "" SJK esv1113338 11 102916041 102916354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953145 S 2 0 1 "" HuRef nsv38767 11 102916042 102916354 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57345 M 24 "" nsv526530 11 102917974 102923294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702843 S 2026 0 1 "" dgv1308n71 11 102965224 103140178 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898348,nsv898347,nsv898346,nsv898345 M 6533 0 7 "" SP51219,SP52830,SP54579,SP55092,SP55996,SP57585,SP81533 esv268483 11 103005979 103006182 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499562 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07357 nsv898349 11 103016107 103188244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573363 S 6533 1 0 "" IS33330 nsv467 11 103150047 103181726 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6479 S 9 1 0 "" NA12156 esv267709 11 103241549 103241880 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565844,essv2521345,essv2542468,essv2570656,essv2550297,essv2535265,essv2520721,essv2565390,essv2538124 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11829,NA11894,NA11919,NA12044,NA12234,NA12249,NA12716,NA12812 esv271193 11 103297774 103298124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514568,essv2516999,essv2518741,essv2515512,essv2516525,essv2516255,essv2516877,essv2517224,essv2515215,essv2518875,essv2518262,essv2513740 M 157 12 0 Samples from several populations that are part of the HapMap project. PDGFD NA07347,NA11840,NA11931,NA12045,NA12249,NA12814,NA12891,NA12892,NA18970,NA19238,NA19239,NA19240 esv273423 11 103297789 103298119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579957,essv2580994,essv2579467 M 7 3 0 Samples from several populations that are part of the HapMap project. PDGFD NA12892,NA19238,NA19240 nsv38514 11 103308123 103312746 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57092 M 24 PDGFD esv270422 11 103417330 103417591 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498641,essv2507113,essv2494009,essv2495544,essv2499090,essv2510384,essv2497062,essv2499716 M 157 8 0 Samples from several populations that are part of the HapMap project. PDGFD NA18858,NA18870,NA18871,NA18916,NA19114,NA19172,NA19190,NA19225 nsv819791 11 103421132 103423716 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419447 S 2 0 1 PDGFD AK1 esv22062 11 103421582 103423692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18950,esv13101 M 451 0 7 PDGFD NA06985,NA12004,NA12006,NA12239,NA12414,NA12489,NA18523 dgv237n67 11 103421590 103423683 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826065,nsv826067,nsv826066 M 31 0 8 PDGFD AK18,AK2,NA18542,NA18547,NA18566,NA18570,NA18968,NA18969 nsv526709 11 103441679 103451371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703048 S 2026 0 1 PDGFD esv2477876 11 103454249 103454968 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250281 S 1 1 0 PDGFD NA18507 esv2205640 11 103454570 103455024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564024 S 1 0 1 PDGFD NA18507 esv3147 11 103454692 103454894 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25588 S 1 0 1 Single Asian sample YH PDGFD YH nsv826068 11 103464602 103509166 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441364 S 31 0 1 PDGFD NA18969 esv2750978 11 103470000 104851268 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984833,essv6984835,essv6984834,essv6984832,essv6984831 M 771 1 0 CARD16,CARD17,CARD18,CASP1,CASP12,CASP4,CASP5,LOC643733,PDGFD SPC_183 nsv519705 11 103483750 103487043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697002 S 2026 0 1 PDGFD esv1297071 11 103494718 103494718 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180130 S 2 1 0 PDGFD HuRef esv29047 11 103511169 103511628 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14526 S 451 2 0 PDGFD NA12828,NA18861 esv2597532 11 103514638 103516272 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302499 S 1 0 1 PDGFD NA18507 esv2037427 11 103515505 103516228 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664026 S 1 0 1 PDGFD NA18507 esv3736 11 103515636 103516193 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26177 S 1 0 1 Single Asian sample YH PDGFD YH esv9653 11 103515669 103516023 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32094 S 1 0 1 PDGFD SJK esv991768 11 103515684 103516027 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580046 S 3 0 1 PDGFD HuRef esv1417082 11 103515693 103516037 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637338 S 2 0 1 PDGFD HuRef esv269701 11 103545356 103547072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493190,essv2504135,essv2509760,essv2496439,essv2501023,essv2509549,essv2493520 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18508,NA18510,NA18856,NA19129,NA19137 esv1479783 11 103570442 103570492 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806833 S 2 0 1 "" HuRef esv268439 11 103649926 103650264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575920,essv2571760,essv2546419,essv2526026,essv2556638,essv2568419,essv2545491,essv2523239,essv2548426,essv2576908,essv2550306,essv2535106,essv2552293,essv2520625,essv2558517,essv2577753,essv2553651,essv2559605,essv2565349,essv2537623,essv2528179,essv2540054,essv2520854,essv2557433,essv2552404,essv2551666,essv2562785,essv2569353,essv2578515,essv2550249,essv2537098,essv2527350,essv2561677,essv2552837,essv2540301,essv2524558,essv2561269,essv2539615,essv2551146,essv2568964,essv2543492,essv2556128,essv2528112,essv2562479,essv2575511,essv2575043,essv2538635,essv2574962,essv2568771,essv2560334,essv2548141,essv2549682,essv2571254,essv2551583,essv2536080,essv2537866,essv2533351,essv2554787,essv2547891,essv2563475 M 157 60 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA10847,NA11830,NA11840,NA11881,NA11918,NA11994,NA11995,NA12003,NA12004,NA12045,NA12154,NA12234,NA12249,NA12489,NA12716,NA12750,NA12761,NA12763,NA12776,NA12812,NA12878,NA12891,NA18489,NA18498,NA18499,NA18502,NA18504,NA18507,NA18508,NA18510,NA18511,NA18517,NA18522,NA18523,NA18542,NA18552,NA18555,NA18562,NA18563,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA19099,NA19102,NA19108,NA19138,NA19147,NA19190,NA19210,NA19225,NA19238,NA19257 esv273718 11 103649931 103650019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582051,essv2582287,essv2584277 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 nsv507615 11 103680902 103686902 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619056,nssv620380,nssv617820,nssv623024 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2445351 11 103684738 103686456 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195354 S 1 0 1 "" NA18507 esv1991361 11 103685395 103686139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888020 S 1 0 1 "" NA18507 esv3019 11 103685544 103685983 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25460 S 1 0 1 Single Asian sample YH "" YH esv6227 11 103685602 103685951 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28668 S 1 0 1 "" SJK esv1259900 11 103685604 103685947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826933 S 2 0 1 "" HuRef esv1008385 11 103707243 103717353 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565811 S 3 0 1 "" HuRef nsv511008 11 103750930 103811889 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618620,nssv624321 M 4 0 0 "" CHM,NA18994 dgv1309n71 11 103767043 103877528 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898351,nsv898350 M 6533 0 2 "" IS31285,IS35100 nsv468 11 103768103 103789308 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6481,nssv1960,nssv3986 M 9 0 3 "" NA12156,NA12878,NA18555 nsv511481 11 103770265 103778734 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626097 S 1 1 0 "" 1 nsv510271 11 103770301 103776301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621310 S 4 0 1 "" NA15510 esv996863 11 103771173 103779115 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564581 S 3 0 1 "" HuRef dgv238n67 11 103772538 103778596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826069,nsv826070 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 nsv821181 11 103772757 103778468 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420960 S 1 0 1 "" NA10851 nsv436132 11 103772864 103778661 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466669 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25505 11 103772866 103778468 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20905 S 451 7 12 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12044,NA12156,NA12776,NA12878,NA18511,NA18523,NA18861,NA18909,NA18916,NA19099,NA19147,NA19240,NA19257 nsv819665 11 103772887 103778498 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419720 S 2 0 1 "" AK1 esv5435 11 103772954 103778438 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27876 S 1 0 1 "" SJK esv995371 11 103772958 103778438 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579809 S 3 0 1 "" HuRef nsv498769 11 103772958 103778443 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585542 S 9 0 1 "" nsv514587 11 103773008 103778664 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628119 S 1414 0 1 "" dgv1310n71 11 103779745 104002817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898352,nsv898353 M 6533 0 3 "" IS32607,IS34599,IS35083 esv4549 11 103783209 103783502 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26990 S 1 0 1 Single Asian sample YH "" YH nsv826071 11 103811469 103873451 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441366 S 31 0 1 "" NA18969 nsv898354 11 103814624 103922584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507892 S 6533 0 1 "" SP54614 nsv8867 11 103820771 103826404 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22561 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv26370 11 103821288 103825944 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17117 S 451 0 1 "" NA19240 nsv832254 11 103917979 104112487 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449454 S 95 0 1 "" esv268664 11 104023114 104023489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511854,essv2499033,essv2510422 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA19114,NA19172 esv2511744 11 104077115 104078835 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203012 S 1 0 1 "" NA18507 esv2635496 11 104102039 104103548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314642 S 1 0 1 "" NA18507 nsv826072 11 104167918 104273567 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441367 S 31 0 1 CASP12 NA18969 esv33027 11 104173905 104176101 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99142 S 51 1 0 "" 22275 nsv832255 11 104180128 104352171 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449455 S 95 0 1 CASP12,CASP4,LOC643733 esv33953 11 104215160 104242742 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93209 S 51 0 1 "" 22170 dgv433e1 11 104224803 104303755 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1354,essv15180 M 271 0 0 CASP12,LOC643733 NA18504 nsv8869 11 104229815 104265247 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23182,nssv22543 M 31 1 1 Samples from several populations that are part of the HapMap project. CASP12 NA18504,NA18517 nsv898355 11 104235532 104403053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571698 S 6533 1 0 CASP1,CASP12,CASP4,CASP5,LOC643733 IS32777 esv27913 11 104262959 104286869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20820 S 451 0 1 CASP12,LOC643733 NA12414 nsv468862 11 104279224 104748581 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543924 S 1557 1 0 CARD16,CARD17,CARD18,CASP1,CASP4,CASP5,LOC643733 1780862563_A nsv38581 11 104283218 104284624 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57159 M 24 LOC643733 nsv898356 11 104284405 104343681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588485 S 6533 0 1 CASP4,LOC643733 IS38207 esv272341 11 104291778 104292118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581521,essv2581047 M 7 2 0 Samples from several populations that are part of the HapMap project. LOC643733 NA12878,NA19240 esv269491 11 104291783 104292113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565859,essv2540797,essv2571602,essv2546415,essv2521338,essv2526185,essv2536607,essv2522711,essv2544043,essv2570770,essv2556795,essv2568307,essv2545550,essv2523306,essv2531889,essv2577511,essv2550680,essv2525344,essv2534973,essv2554072,essv2544298,essv2552064,essv2520714,essv2547349,essv2529410,essv2558356,essv2564728,essv2577690,essv2553525,essv2565455,essv2576364,essv2520043,essv2564276,essv2554895,essv2530856,essv2562057,essv2537387,essv2539930,essv2532109,essv2544751,essv2523752,essv2553106,essv2541217,essv2542831,essv2540347,essv2524401,essv2565201,essv2534801,essv2561086,essv2539820,essv2549188,essv2519836,essv2559864,essv2522064,essv2566159,essv2532512,essv2567896,essv2528867,essv2567374,essv2541762,essv2570193,essv2563688,essv2553424,essv2535552,essv2572574,essv2559037,essv2566841,essv2541980,essv2569076,essv2527823,essv2534136,essv2578362,essv2573170,essv2555198,essv2533789,essv2555714,essv2566558,essv2529962,essv2573847,essv2527526,essv2555967,essv2522559,essv2531296,essv2573597,essv2543342,essv2577018,essv2572032,essv2525554,essv2575040,essv2572790,essv2549692,essv2574398,essv2551200,essv2536330,essv2537875,essv2548765,essv2554627,essv2548008,essv2524929,essv2563178,essv2558010 M 157 101 0 Samples from several populations that are part of the HapMap project. LOC643733 NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA18489,NA18505,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18907,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19102,NA19143,NA19225,NA19240,NA19257 nsv469 11 104331512 104360046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10837 S 9 1 0 CASP4 NA18956 dgv434e1 11 104401086 104437198 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9519,essv16617,essv13347 M 271 0 0 CARD16,CASP1 NA18500,NA18521,NA19208 esv1015 11 104401086 104484927 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 CARD16,CARD17,CASP1 nsv517089 11 104420773 104435886 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679709,nssv692529,nssv666866,nssv672727,nssv671695,nssv656321,nssv683798,nssv670602,nssv687285,nssv687317,nssv658928,nssv675624,nssv668937,nssv674156,nssv676978,nssv666813,nssv657978,nssv656386,nssv666774,nssv689568,nssv669145,nssv676209,nssv665606,nssv680370,nssv656137,nssv661632,nssv666889,nssv682448,nssv673469,nssv661895,nssv663260,nssv671924,nssv683377,nssv680184,nssv683775,nssv678842,nssv669492,nssv659154,nssv681367,nssv653766,nssv660483,nssv688438,nssv652423,nssv677082 M 2026 0 44 CARD16 nsv470 11 104421571 104466440 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8958 S 9 0 1 "" NA12156 dgv435e1 11 104424602 104439310 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14683,essv11069,essv8713,essv9958,essv8252,essv9862,essv15443,essv14948,essv11410,essv8986 M 271 0 0 "" NA19132,NA19138,NA19144,NA19145,NA19153,NA19192,NA19194,NA19200,NA19204,NA19206 essv12898 11 104424602 104442581 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18522 nsv8870 11 104425560 104437692 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22953,nssv23279,nssv21388 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132,NA19144 esv23696 11 104428630 104436616 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20753 S 451 0 2 "" NA18502,NA18907 dgv436e1 11 104428916 104437198 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15910,essv12885,essv13947,essv9484,essv8579 M 271 0 0 "" NA18502,NA19130,NA19154,NA19160,NA19205 esv2421755 11 104429072 104436443 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003744,essv5120735,essv5063495,essv5074735,essv5082203,essv5066393,essv5139285,essv5094451,essv5137238,essv5081877,essv5057976,essv5087879,essv5159240,essv5088056,essv5120928,essv5079427,essv5005410,essv5075573,essv5013475,essv5122579,essv5157188,essv5069849,essv5002569,essv5047924,essv5054962,essv5036253,essv5087133,essv5013342,essv5005258,essv5134559,essv5151514,essv5060176,essv5094965,essv5094994,essv5032150,essv5084038,essv5099300,essv5102130,essv5035133,essv5150373,essv5019354,essv5073718,essv5045556,essv5135646,essv5014154,essv5105086,essv5149083,essv5042775,essv5114494,essv5069299,essv5014549,essv5080698,essv5068044,essv5080652,essv5143707,essv5037817,essv5121451,essv5051030,essv5007003,essv5135890,essv5124433 M 1184 0 61 "" NA12342,NA18484,NA18486,NA18497,NA18498,NA18500,NA18868,NA19130,NA19132,NA19138,NA19144,NA19150,NA19153,NA19154,NA19160,NA19192,NA19194,NA19200,NA19204,NA19206,NA19208,NA19224,NA19226,NA19371,NA19374,NA19376,NA19404,NA19428,NA19438,NA19440,NA19443,NA19456,NA19468,NA19469,NA19470,NA19712,NA19713,NA19819,NA19828,NA19901,NA19914,NA19915,NA19917,NA19918,NA20126,NA20281,NA20333,NA20335,NA20356,NA20358,NA21367,NA21390,NA21439,NA21441,NA21442,NA21447,NA21451,NA21491,NA21529,NA21631,NA21739 nsv442626 11 104429072 104436443 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818862 11 104429456 104435886 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418500,nssv1418501 M 112 0 2 "" NA19192,NA19194 nsv514588 11 104429936 104436312 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628120 S 1414 0 1 "" dgv437e1 11 104442581 104484927 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15959,essv12133 M 271 0 0 CARD17 NA19142,NA19173 nsv818863 11 104445414 104466207 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416039,nssv1416589,nssv1416590,nssv1416050 M 112 4 0 "" NA19140,NA19142,NA19172,NA19173 nsv8871 11 104446960 104478718 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20489 S 31 1 0 Samples from several populations that are part of the HapMap project. CARD17 NA19173 esv33277 11 104449972 104474695 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95951 S 51 1 0 CARD17 22127 nsv442241 11 104455634 104477768 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CARD17 nsv524985 11 104466207 104496850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701014 S 2026 0 1 CARD17 nsv528789 11 104519774 104638256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705459 S 2026 0 1 "" nsv38978 11 104554485 104556996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57556 M 24 "" nsv442242 11 104555015 104572108 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv471 11 104621476 104665758 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1961 S 9 0 1 "" NA18555 nsv510272 11 104645127 104651127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624057 S 4 0 1 "" NA18994 nsv523995 11 104677259 104748581 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699855 S 2026 1 0 "" esv27058 11 104714577 104717483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16586 S 451 0 1 "" NA19147 esv274016 11 104719981 104720475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579234,essv2579655 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv33350 11 104730339 104755140 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97469 S 51 0 1 "" 21616 nsv436129 11 104798500 104804436 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466670 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22869 11 104798715 104804129 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11948 S 451 0 8 "" NA18502,NA18505,NA18508,NA18511,NA18517,NA18861,NA18907,NA18909 esv274083 11 104846723 104846808 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581250 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv259554 11 104900162 104900567 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394174,essv2393952,essv2393865,essv2393710,essv2393991,essv2394272 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259846 11 104900173 104900585 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398631,essv2396748,essv2400226,essv2400022,essv2396073,essv2398794,essv2394767,essv2398603,essv2399060,essv2395840,essv2396732,essv2400308,essv2398499,essv2395269,essv2396559,essv2399121,essv2397540,essv2400917,essv2399818,essv2398919,essv2396021,essv2395768,essv2400554,essv2397567,essv2398087,essv2399965,essv2396789,essv2399371,essv2396647,essv2398663,essv2396275,essv2400749,essv2395393,essv2396693,essv2397985,essv2399603,essv2399195,essv2399722,essv2397272,essv2401084,essv2396949,essv2397613,essv2394716,essv2395259,essv2395565,essv2397669,essv2399258,essv2400653,essv2394992,essv2398555,essv2396534,essv2397464,essv2399344,essv2396162,essv2396624,essv2395718,essv2396046,essv2400690,essv2394937,essv2395095,essv2398399,essv2400371,essv2396294,essv2398516,essv2395497,essv2400856,essv2397405,essv2399567,essv2395082,essv2399843,essv2400592,essv2397875,essv2396886,essv2398857,essv2400437,essv2395544,essv2398929,essv2399006,essv2400144,essv2399158,essv2396830,essv2399934,essv2399455,essv2400076,essv2394654,essv2398423,essv2397906,essv2398238,essv2395360,essv2399984,essv2394909,essv2394422,essv2396194,essv2395876,essv2397504,essv2395481,essv2398145,essv2397139,essv2400809,essv2395139,essv2394542,essv2400377,essv2395818,essv2399636,essv2397006,essv2397385,essv2398732,essv2398390,essv2399285,essv2395144,essv2394812,essv2399779,essv2399495,essv2396397,essv2398056,essv2398692,essv2399695,essv2397231,essv2395923,essv2397093,essv2400458,essv2394491 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18508,NA18510,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18973,NA18980,NA19005,NA19093,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv22814 11 104918566 104921102 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11626 S 451 0 1 "" NA18502 nsv472 11 104963246 104992649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6482 S 9 1 0 GRIA4 NA12156 nsv832256 11 105021803 105194536 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449456 S 95 1 0 GRIA4 nsv898357 11 105120104 105215066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555902 S 6533 0 1 GRIA4 MS21706 nsv832257 11 105167963 105322786 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449457 S 95 0 1 GRIA4 nsv39184 11 105179799 105181414 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57762 M 24 GRIA4 esv2520318 11 105228166 105229665 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172380 S 1 0 1 GRIA4 NA18507 esv2000018 11 105228524 105229211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564002 S 1 0 1 GRIA4 NA18507 esv9295 11 105228675 105229072 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31736 S 1 0 1 GRIA4 SJK esv4809 11 105270682 105271216 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27250 S 1 0 1 Single Asian sample YH GRIA4 YH dgv23n6 11 105270716 105271050 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv39020,nsv39011 M 24 GRIA4 esv6086 11 105270729 105271029 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28527 S 1 0 1 GRIA4 SJK esv2599683 11 105323349 105324848 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164815 S 1 0 1 GRIA4 NA18507 esv268793 11 105341225 105341571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514599,essv2515175 M 157 2 0 Samples from several populations that are part of the HapMap project. GRIA4 NA11840,NA12812 dgv81n21 11 105389295 105398704 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527285,nsv526898 M 2026 0 2 KIAA1826 nsv898358 11 105504790 105687461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581595 S 6533 0 1 "" IS35654 esv271639 11 105549750 105550093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518458,essv2515022,essv2516317,essv2518087,essv2514465,essv2517788,essv2517343,essv2518221,essv2519469,essv2513721 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12287,NA12812,NA12814,NA12872,NA12874,NA12878,NA18970,NA19240 esv272434 11 105549750 105550093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581578,essv2581193 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1293952 11 105549791 105549791 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946668 S 2 1 0 "" HuRef nsv826073 11 105569592 105627550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441368 S 31 0 1 "" NA18969 esv1754117 11 105571330 105571330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082604 S 2 1 0 "" HuRef esv2305636 11 105631084 105631511 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770159 S 1 0 1 "" NA18507 nsv513333 11 105648170 105649125 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625724 S 1 1 0 "" 1 esv1522251 11 105648990 105648990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206628 S 2 1 0 "" HuRef esv1424096 11 105648991 105648991 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090294 S 2 1 0 "" HuRef esv1576823 11 105648994 105648994 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676771 S 2 1 0 "" HuRef esv1185125 11 105648999 105648999 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012566 S 2 1 0 "" HuRef esv2280837 11 105665563 105665986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539675 S 1 0 1 "" NA18507 esv1675135 11 105665689 105665793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705546 S 2 0 1 "" HuRef esv267550 11 105675660 105675988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575916,essv2541021,essv2546621,essv2521125,essv2526223,essv2542347,essv2536706,essv2522681,essv2544198,essv2571023,essv2556695,essv2568173,essv2545511,essv2523275,essv2577329,essv2570429,essv2548378,essv2521663,essv2550705,essv2550337,essv2534963,essv2554135,essv2544494,essv2552268,essv2520642,essv2547253,essv2529194,essv2558497,essv2564564,essv2577925,essv2553798,essv2559435,essv2565235,essv2576504,essv2520108,essv2564153,essv2554888,essv2530591,essv2561953,essv2537303,essv2528187,essv2546704,essv2557581,essv2557148,essv2552672,essv2551902,essv2532341,essv2569512,essv2578582,essv2539079,essv2527394,essv2544820,essv2562965,essv2523561,essv2552992,essv2542843,essv2540338,essv2524425,essv2565005,essv2534605,essv2561015,essv2539817,essv2549178,essv2519890,essv2522222,essv2566231,essv2531215,essv2532660,essv2567846,essv2528963,essv2567309,essv2541681,essv2570085,essv2563620,essv2553440,essv2535572,essv2572328,essv2559031,essv2566949,essv2551128,essv2568968,essv2543738,essv2528096,essv2562204,essv2539341,essv2534102,essv2573250,essv2555193,essv2533529,essv2555542,essv2567279,essv2530072,essv2573994,essv2527534,essv2557744,essv2555921,essv2531416,essv2573686,essv2543372,essv2572017,essv2525797,essv2526786,essv2529640,essv2575389,essv2575269,essv2538481,essv2526537,essv2560777,essv2524066,essv2560798,essv2572683,essv2560479,essv2549843,essv2571174,essv2545806,essv2574125,essv2551349,essv2536355,essv2538151,essv2548813,essv2533225,essv2554799,essv2524836,essv2563359,essv2557935 M 157 125 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19143,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274204 11 105675660 105675988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582225,essv2582425,essv2582828,essv2583983,essv2584513,essv2583524 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1036953 11 105675691 105675691 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750912 S 2 1 0 "" HuRef esv2537842 11 105779784 105781361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309918 S 1 0 1 "" NA18507 esv2165173 11 105779871 105780792 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913653 S 1 0 1 "" NA18507 nsv832258 11 105805573 105932865 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449458 S 95 1 0 "" esv9468 11 105818950 105819171 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31909 S 1 0 0 "" SJK esv1705184 11 105819164 105819213 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188313 S 2 0 1 "" HuRef nsv516910 11 105899414 105904692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673332,nssv678212,nssv657857,nssv657735,nssv656723,nssv688184,nssv654882,nssv693307,nssv661217,nssv674452,nssv703489,nssv661165,nssv689481,nssv683988 M 2026 0 14 "" nsv468864 11 105903230 105904692 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543925 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00618 esv2443810 11 105916983 105918516 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181877 S 1 0 1 "" NA18507 nsv473 11 106001082 106036538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3987 S 9 1 0 "" NA12878 nsv898359 11 106028784 106162073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546198 S 6533 0 1 GUCY1A2 MS17114 esv1761342 11 106039185 106039185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616296 S 2 1 0 "" HuRef dgv1311n71 11 106071324 106103496 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898361,nsv898360 M 6533 0 2 GUCY1A2 IS30616,IS41068 esv1074601 11 106085595 106085595 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164838 S 2 1 0 GUCY1A2 HuRef esv1117785 11 106085901 106085901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849698 S 2 1 0 GUCY1A2 HuRef esv2590906 11 106100567 106101945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372752 S 1 0 1 GUCY1A2 NA18507 esv2222990 11 106100898 106101565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997665 S 1 0 1 GUCY1A2 NA18507 esv997476 11 106101080 106101376 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573693 S 3 0 1 GUCY1A2 HuRef esv9628 11 106101086 106101409 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32069 S 1 0 1 GUCY1A2 SJK esv1462632 11 106101090 106101387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159941 S 2 0 1 GUCY1A2 HuRef nsv39784 11 106101091 106101387 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58362 M 24 GUCY1A2 esv5504 11 106159608 106159685 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27945 S 1 1 0 GUCY1A2 SJK esv2620868 11 106162814 106163860 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193628 S 1 1 0 GUCY1A2 NA18507 nsv527620 11 106171269 106171543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704086 S 2026 0 1 GUCY1A2 nsv898362 11 106221089 106314667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581649,nssv1554164,nssv1600453 M 6533 0 3 GUCY1A2 IS35675,IS41887,MS20630 nsv474 11 106262230 106300356 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1962 S 9 0 1 GUCY1A2 NA18555 dgv239n67 11 106291228 106294773 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826074,nsv826076 M 31 0 14 GUCY1A2 AK12,AK18,NA18526,NA18547,NA18552,NA18564,NA18582,NA18592,NA18949,NA18951,NA18968,NA18969,NA18997,NA18999 esv28258 11 106291312 106294734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17689 S 451 0 4 GUCY1A2 NA12006,NA12287,NA12489,NA12776 nsv498770 11 106291447 106294781 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585553 S 9 0 1 GUCY1A2 nsv514589 11 106291584 106294680 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628121 S 1414 0 1 GUCY1A2 esv7117 11 106344628 106344711 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29558 S 1 1 0 GUCY1A2 SJK esv9111 11 106344660 106344743 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31552 S 1 1 0 GUCY1A2 SJK esv1005254 11 106344712 106344712 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571944 S 3 1 0 GUCY1A2 HuRef esv1671016 11 106344713 106344713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854780 S 2 1 0 GUCY1A2 HuRef nsv39525 11 106344713 106344713 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58103 M 24 GUCY1A2 nsv38495 11 106344714 106344714 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57073 M 24 GUCY1A2 esv268594 11 106398837 106399087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571737,essv2523209,essv2549974,essv2558880,essv2527059,essv2561522,essv2566757,essv2551133,essv2569106,essv2527861,essv2562467,essv2539250,essv2575746,essv2526636,essv2560867,essv2574905,essv2571437,essv2545935 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12004,NA18511,NA18516,NA18522,NA18523,NA18853,NA18858,NA18861,NA18907,NA18909,NA18912,NA19099,NA19114,NA19137,NA19138,NA19238,NA19239 esv274264 11 106398840 106399118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580473,essv2579986,essv2580568,essv2579296,essv2579472 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 nsv527555 11 106400242 106476691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704016 S 2026 0 1 "" esv271238 11 106405023 106405373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514675 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv898363 11 106450185 106551902 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563762,nssv1567975,nssv1589993 M 6533 2 1 "" IS30066,IS31179,IS38440 nsv898364 11 106450185 106790846 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577662 S 6533 1 0 CWF19L2 IS34518 dgv1312n71 11 106450185 106948630 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898366,nsv898369,nsv898372,nsv898367,nsv898365,nsv898370 M 6533 8 0 ALKBH8,CWF19L2 IS30181,IS31198,IS33600,IS34312,IS35053,IS38208,IS38607,IS40111 nsv898368 11 106463514 106576455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597741 S 6533 1 0 "" IS41308 nsv832260 11 106480304 106687005 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449459 S 95 0 1 "" nsv508654 11 106485822 106520858 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619991 S 4 0 1 "" NA15510 nsv898371 11 106555178 106636174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589994 S 6533 1 0 "" IS38440 nsv523141 11 106630113 106633224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698848 S 2026 0 1 "" nsv898373 11 106630113 106939045 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582103 S 6533 1 0 ALKBH8,CWF19L2 IS35788 esv29334 11 106631928 106632774 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10838 S 451 0 1 "" NA11995 nsv527352 11 106645287 106645805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703781 S 2026 0 1 "" nsv832261 11 106651111 106826772 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449460 S 95 0 1 CWF19L2 nsv436658 11 106657124 106671449 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466671 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv898374 11 106662090 106768340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554828 S 6533 0 1 CWF19L2 MS21020 esv2354238 11 106663646 106664061 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688063 S 1 0 1 "" NA18507 nsv475 11 106717010 106760932 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1036,nssv9275,nssv10897 M 9 0 3 CWF19L2 NA15510,NA18517,NA19240 nsv75 11 106724834 106756990 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv75 S 1 0 1 CWF19L2 NA15510 nsv508655 11 106727851 106762695 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618796,nssv617394,nssv619996 M 4 0 3 CWF19L2 CHM,NA10860,NA15510 nsv509441 11 106727851 106762695 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623531 S 4 1 0 CWF19L2 NA18994 nsv8872 11 106733574 106754830 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20395,nssv20919,nssv22982,nssv23887,nssv20120,nssv20657,nssv20687,nssv22591,nssv21037,nssv20253,nssv20254,nssv18619,nssv19202,nssv20365,nssv23307,nssv23557,nssv21128,nssv19554,nssv21007,nssv21158,nssv20224,nssv23210,nssv25436 M 31 0 18 Samples from several populations that are part of the HapMap project. CWF19L2 NA07029,NA07048,NA10839,NA11830,NA12155,NA12740,NA18502,NA18517,NA18563,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19221,NA19240 esv1000794 11 106736657 106754387 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564879 S 3 0 1 CWF19L2 HuRef esv26501 11 106736726 106754913 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15462,esv14002,esv18472 M 451 1 17 CWF19L2 NA07045,NA11931,NA11993,NA11995,NA12828,NA15510,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19108,NA19147,NA19240,NA19257 esv2421980 11 106743866 106746393 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5119950,essv5056487,essv5132256,essv5027315,essv5138449,essv5044132,essv5114136,essv5028285,essv5042207,essv5135359,essv5121437,essv5052349,essv5048521,essv5118573,essv5086180,essv5136637,essv5096157,essv5088098,essv5051160,essv5009250,essv5004942,essv5003362,essv5104803,essv5055217,essv5126390,essv5023844,essv5137074,essv5119227,essv5155830,essv5044594,essv5126386,essv5138351,essv5147533,essv5095672,essv5149035,essv5006983,essv5094684,essv5097365,essv5118690,essv5022277,essv5112240,essv5113334,essv5146132,essv5062956,essv5029571,essv5085012,essv5117246,essv5002320,essv5050011,essv5062178,essv5067448,essv5101568,essv5139148,essv5123388,essv5109502,essv5091684,essv5101802,essv5008453,essv5076316,essv5150388,essv5097443,essv5141722,essv5116092,essv5078983,essv5058869,essv5091194,essv5149306,essv5019359,essv5113888,essv5073254,essv5144848,essv5012466,essv5071213,essv5035209,essv5005941,essv5060294,essv5058807,essv5040068,essv5142779,essv5128271,essv5022004,essv5143644,essv5118997,essv5081500,essv5070036,essv5050256,essv5044158,essv5071058,essv5041492,essv5037001,essv5131401,essv5077351,essv5156992,essv5014374,essv5132407,essv5041779,essv5082931,essv5151539,essv5065917,essv5023709,essv5087914,essv5043830,essv5120680,essv5154140,essv5136271,essv5098933,essv5042759,essv5079263,essv5064306,essv5024259,essv5089388,essv5043738,essv5033185,essv5057105,essv5016339,essv5091146,essv5117969,essv5137233,essv5048749,essv5125621,essv5106982,essv5119272,essv5134193,essv5045566,essv5150675,essv5056562,essv5079296,essv5125214,essv5123799,essv5140967,essv5123708,essv5072222,essv5096585,essv5129123,essv5155890,essv5074870,essv5012958,essv5004568,essv5045137,essv5060854,essv5013250,essv5017785,essv5094521,essv5100553,essv5152686,essv5107987,essv5111956,essv5055527,essv5140768,essv5084166,essv5145819,essv5096825,essv5005724,essv5023750,essv5049598,essv5029841,essv5087028,essv5027879,essv5048057,essv5023004,essv5065107,essv5066119,essv5014890,essv5152689,essv5053418,essv5028126,essv5030437,essv5133271,essv5063696,essv5131743,essv5124512,essv5134537,essv5101539,essv5092683,essv5046926,essv5016825,essv5075584,essv5002864,essv5068167,essv5054281,essv5013604,essv5069323,essv5119701,essv5071469,essv5121718,essv5157734,essv5046419,essv5010307,essv5019182,essv5003740,essv5037495,essv5092034,essv5157878,essv5094555,essv5078728,essv5010827,essv5016091,essv5139485,essv5105571,essv5049636,essv5156372,essv5070037,essv5121827,essv5093686,essv5028358,essv5113025,essv5024592,essv5087334,essv5081009,essv5004998,essv5147752,essv5159854,essv5011140,essv5082856,essv5009422,essv5069571,essv5106839,essv5027068,essv5126106,essv5070466,essv5103897,essv5071163,essv5132483,essv5136613,essv5136947,essv5049565,essv5025326,essv5129956,essv5128118,essv5035757,essv5074890,essv5116416,essv5034616,essv5112360,essv5001961,essv5148355,essv5097737,essv5060286,essv5044611,essv5106361,essv5149268,essv5089198,essv5026297,essv5017666,essv5068876,essv5154615,essv5087112,essv5124709,essv5036010,essv5025862,essv5053024,essv5096961,essv5092956,essv5025859,essv5129598,essv5029723,essv5030635,essv5124870,essv5063915,essv5005166,essv5148239,essv5084982,essv5004944,essv5152742,essv5017883,essv5154085,essv5078568,essv5155257,essv5151277,essv5021996,essv5098047,essv5127970,essv5074652,essv5104873,essv5080634,essv5101015,essv5143879,essv5141406,essv5033878,essv5024017,essv5064106,essv5147942,essv5063534,essv5114360,essv5062027,essv5139672,essv5138242,essv5005882,essv5139443,essv5015955,essv5145614,essv5011842,essv5067751,essv5047845,essv5118941,essv5147723,essv5017861,essv5114764,essv5046008,essv5132688,essv5111996,essv5084329,essv5145601,essv5099326,essv5082071,essv5117235,essv5110635,essv5111945,essv5091871,essv5052868,essv5137240,essv5006893,essv5118795,essv5134487,essv5011801,essv5087531,essv5083109,essv5101002,essv5158147,essv5014983,essv5126064,essv5050392,essv5137491,essv5091614,essv5054530,essv5065508,essv5006147,essv5085892,essv5093459,essv5045210,essv5128861,essv5042164,essv5156229,essv5132869,essv5028319,essv5092392,essv5156437,essv5074679,essv5159602,essv5017634,essv5049214,essv5058851,essv5057983,essv5034591,essv5061426,essv5057545,essv5149202,essv5062758,essv5150359,essv5022584,essv5054859,essv5148916,essv5151824,essv5012219,essv5078328,essv5102368,essv5104413,essv5144007,essv5041709,essv5151914,essv5106811,essv5139590,essv5106161,essv5033794,essv5129747,essv5099131,essv5007877,essv5114422,essv5159393,essv5031378,essv5039353,essv5084637,essv5066449,essv5142212,essv5131820,essv5018632,essv5059360,essv5126135,essv5125053,essv5079463,essv5075452,essv5008123,essv5157948,essv5152303,essv5108879,essv5139222,essv5038179,essv5049468,essv5129004,essv5066300,essv5123506,essv5120206,essv5123332,essv5018440,essv5042303,essv5151365,essv5053448,essv5043911,essv5037550,essv5160962,essv5097386,essv5049938,essv5142762,essv5107505,essv5003469,essv5030347,essv5155099,essv5136681,essv5085846,essv5144297,essv5113036,essv5106024,essv5061603,essv5063604,essv5140511,essv5121094,essv5153842,essv5132761,essv5100712,essv5102863,essv5146633,essv5117290,essv5145032,essv5147825,essv5106984,essv5030646,essv5016242,essv5120533,essv5110126,essv5016124,essv5031270,essv5094014,essv5068400,essv5041069,essv5149501,essv5070140,essv5067092,essv5141290,essv5151311,essv5078807,essv5144608,essv5130400,essv5051296,essv5027254,essv5136850,essv5138267,essv5054169,essv5027874,essv5023761,essv5086985,essv5119175,essv5104385,essv5039744,essv5019973,essv5104337,essv5059147,essv5136074,essv5143303,essv5110055,essv5083780,essv5027642,essv5012302,essv5005806,essv5087562,essv5021727,essv5048796,essv5079057,essv5123802,essv5069542,essv5145450,essv5122413,essv5007076,essv5114606,essv5076448,essv5012952,essv5146690,essv5062814,essv5024313,essv5012111,essv5142408,essv5113997,essv5095061,essv5127126,essv5149140,essv5120565,essv5029914,essv5116031,essv5014763,essv5056456,essv5152280,essv5091159,essv5131748,essv5093998,essv5035503,essv5032974,essv5108791,essv5083234,essv5099837,essv5104672,essv5153415,essv5085509,essv5050756,essv5042508,essv5071889,essv5016075,essv5137605,essv5073243,essv5121760,essv5107333,essv5150328,essv5103390,essv5049238,essv5060464,essv5007819,essv5077549,essv5074432,essv5002954,essv5110412,essv5144085,essv5133294,essv5028400,essv5102159,essv5049116,essv5056192 M 1184 0 524 CWF19L2 NA06989,NA06991,NA06993,NA06994,NA06995,NA07014,NA07029,NA07031,NA07045,NA07055,NA07345,NA07348,NA07435,NA10830,NA10831,NA10835,NA10837,NA10839,NA10852,NA10855,NA10861,NA11830,NA11832,NA11840,NA11893,NA11931,NA11992,NA11993,NA11994,NA11995,NA12005,NA12043,NA12045,NA12056,NA12155,NA12249,NA12273,NA12283,NA12286,NA12335,NA12336,NA12341,NA12342,NA12376,NA12386,NA12399,NA12400,NA12546,NA12716,NA12740,NA12751,NA12753,NA12760,NA12762,NA12763,NA12767,NA12777,NA12817,NA12818,NA12828,NA12830,NA12832,NA12843,NA12890,NA17966,NA17972,NA17980,NA17981,NA17986,NA17993,NA17997,NA17999,NA18102,NA18105,NA18107,NA18112,NA18114,NA18117,NA18122,NA18125,NA18134,NA18143,NA18146,NA18147,NA18151,NA18152,NA18156,NA18160,NA18161,NA18162,NA18484,NA18485,NA18486,NA18489,NA18498,NA18500,NA18501,NA18506,NA18507,NA18508,NA18510,NA18515,NA18517,NA18520,NA18526,NA18529,NA18532,NA18534,NA18546,NA18548,NA18550,NA18555,NA18563,NA18566,NA18572,NA18576,NA18582,NA18592,NA18593,NA18594,NA18596,NA18597,NA18609,NA18612,NA18617,NA18620,NA18623,NA18624,NA18626,NA18630,NA18633,NA18637,NA18640,NA18643,NA18682,NA18696,NA18748,NA18749,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18863,NA18868,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18930,NA18933,NA18935,NA18939,NA18943,NA18946,NA18949,NA18951,NA18952,NA18953,NA18959,NA18962,NA18963,NA18969,NA18971,NA18972,NA18973,NA18975,NA18976,NA18979,NA18980,NA18987,NA18990,NA18991,NA18993,NA18995,NA19005,NA19010,NA19028,NA19031,NA19035,NA19038,NA19044,NA19046,NA19054,NA19056,NA19057,NA19059,NA19060,NA19062,NA19064,NA19065,NA19067,NA19076,NA19077,NA19081,NA19085,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19102,NA19107,NA19108,NA19109,NA19117,NA19118,NA19119,NA19120,NA19121,NA19123,NA19131,NA19132,NA19137,NA19141,NA19142,NA19143,NA19146,NA19147,NA19148,NA19152,NA19153,NA19154,NA19159,NA19174,NA19179,NA19180,NA19182,NA19184,NA19186,NA19189,NA19190,NA19191,NA19193,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19209,NA19211,NA19213,NA19215,NA19221,NA19222,NA19223,NA19224,NA19226,NA19236,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19257,NA19258,NA19307,NA19308,NA19309,NA19313,NA19314,NA19319,NA19328,NA19359,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19383,NA19385,NA19390,NA19394,NA19396,NA19397,NA19398,NA19399,NA19429,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19449,NA19451,NA19452,NA19462,NA19466,NA19468,NA19469,NA19470,NA19472,NA19649,NA19650,NA19651,NA19652,NA19653,NA19656,NA19661,NA19664,NA19665,NA19669,NA19671,NA19675,NA19677,NA19679,NA19685,NA19701,NA19704,NA19708,NA19712,NA19714,NA19723,NA19725,NA19746,NA19748,NA19762,NA19795,NA19819,NA19828,NA19834,NA19901,NA19909,NA19915,NA19916,NA20276,NA20277,NA20279,NA20281,NA20295,NA20297,NA20317,NA20319,NA20322,NA20334,NA20336,NA20340,NA20342,NA20344,NA20345,NA20346,NA20347,NA20349,NA20356,NA20357,NA20359,NA20364,NA20505,NA20506,NA20509,NA20510,NA20517,NA20519,NA20520,NA20522,NA20527,NA20531,NA20538,NA20540,NA20541,NA20544,NA20582,NA20755,NA20759,NA20761,NA20765,NA20766,NA20769,NA20770,NA20772,NA20778,NA20792,NA20796,NA20797,NA20800,NA20801,NA20804,NA20806,NA20812,NA20815,NA20818,NA20819,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20853,NA20854,NA20856,NA20862,NA20869,NA20870,NA20872,NA20873,NA20877,NA20883,NA20888,NA20890,NA20892,NA20896,NA20897,NA20898,NA20901,NA20902,NA20904,NA20908,NA21086,NA21088,NA21092,NA21094,NA21098,NA21100,NA21107,NA21108,NA21111,NA21113,NA21115,NA21116,NA21117,NA21123,NA21141,NA21142,NA21144,NA21300,NA21302,NA21303,NA21311,NA21314,NA21320,NA21355,NA21356,NA21360,NA21361,NA21364,NA21367,NA21368,NA21370,NA21371,NA21378,NA21381,NA21382,NA21387,NA21388,NA21390,NA21391,NA21400,NA21401,NA21403,NA21404,NA21408,NA21415,NA21417,NA21418,NA21421,NA21424,NA21425,NA21434,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21448,NA21451,NA21479,NA21486,NA21488,NA21491,NA21493,NA21494,NA21510,NA21521,NA21522,NA21526,NA21529,NA21578,NA21580,NA21582,NA21583,NA21596,NA21599,NA21600,NA21601,NA21615,NA21616,NA21620,NA21631,NA21632,NA21650,NA21682,NA21686,NA21693,NA21717,NA21719,NA21740,NA21741,NA21784,NA21826 dgv240n67 11 106744137 106748120 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826078,nsv826077 M 31 0 13 CWF19L2 AK10,AK16,AK18,AK20,NA18526,NA18547,NA18566,NA18582,NA18592,NA18949,NA18951,NA18969,NA18973 nsv433518 11 106744316 106746393 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463399 S 9 0 1 Samples from several populations that are part of the HapMap project. CWF19L2 NA18517 nsv511483 11 106744316 106754945 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626100 S 1 1 0 CWF19L2 1 nsv514590 11 106744336 106747952 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628122 S 1414 0 0 CWF19L2 esv2519079 11 106744385 106754804 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385465 S 1 0 1 CWF19L2 NA18507 esv33566 11 106744472 106747949 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97541,essv101110,essv100860,essv98233,essv94017,essv94441,essv96935,essv95660,essv93024,essv98951,essv93780,essv96197,essv96600,essv98583,essv99861,essv93412,essv99633,essv100112,essv100328,essv98509 M 51 16 4 CWF19L2 21616,21618,21656,21772,21802,21808,21817,21841,21863,21938,21972,22007,22011,22085,22086,22170,22217,22286,22300,22352 nsv898375 11 106804841 106870401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589995 S 6533 1 0 CWF19L2 IS38440 nsv898376 11 106804841 106948630 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577663 S 6533 1 0 ALKBH8,CWF19L2 IS34518 nsv898377 11 106821709 106859522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555311 S 6533 0 1 CWF19L2 MS21258 dgv438e1 11 106829486 106849778 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7882,esv1202 M 271 0 0 CWF19L2 NA19140 nsv442243 11 106843163 106852442 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421471 11 106843163 106852591 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5137493,essv5069253,essv5157965,essv5040315,essv5073513,essv5024676,essv5034854,essv5035434,essv5055720,essv5109594,essv5114817,essv5146122,essv5143930,essv5147649,essv5069124 M 1184 0 15 "" NA19140,NA19142,NA19210,NA19371,NA19436,NA19700,NA19702,NA20287,NA20356,NA20357,NA20358,NA21379,NA21647,NA21648,NA21776 dgv439e1 11 106843727 106849778 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15980,essv15158 M 271 0 0 "" NA19142,NA19210 nsv515572 11 106845807 106852591 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705881,nssv658867,nssv663938,nssv686757,nssv682414 M 2026 0 5 "" nsv818864 11 106845807 106853487 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416061,nssv1416072 M 112 0 2 "" NA19140,NA19142 esv272352 11 106859658 106860025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579857,essv2578954 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239 esv269775 11 106859795 106860152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511752,essv2504329,essv2503038,essv2501192,essv2493756,essv2505252,essv2494016,essv2510820,essv2498856,essv2512029 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18505,NA18507,NA18516,NA18517,NA18853,NA18871,NA19116,NA19138,NA19238 esv2422201 11 106984572 107061035 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161545 S 181 1 0 ELMOD1 ND05296 nsv476 11 107022588 107056343 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8959 S 9 1 0 ELMOD1 NA12156 esv2750979 11 107071767 107129408 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986166,essv6982424,essv6982423 M 771 1 0 SLN BEC_44 nsv898378 11 107086195 107353193 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563257 S 6533 1 0 RAB39,SLC35F2,SLN MS25940 nsv521771 11 107095545 107409856 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694538 S 2026 1 0 CUL5,RAB39,SLC35F2 esv33858 11 107122490 107122703 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98554 S 51 0 1 "" 22085 nsv527748 11 107133062 107175438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704234 S 2026 1 0 SLC35F2 esv2014075 11 107145821 107146224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806533 S 1 0 1 "" NA18507 nsv520229 11 107154236 107175438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684540,nssv687797,nssv662039,nssv677842,nssv662617,nssv685596,nssv693254,nssv683123 M 2026 8 0 SLC35F2 dgv1313n71 11 107154236 107178510 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898380,nsv898379 M 6533 15 0 SLC35F2 IS31171,IS33590,IS33596,IS34543,IS37325,IS38058,IS38111,IS38334,IS38475,IS38554,IS39386,IS41105,IS41905,MS17310,SP56022 nsv468867 11 107154236 107202843 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543926 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC35F2 HGDP01166 esv23217 11 107158231 107177500 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18098 S 451 1 0 SLC35F2 NA12287 esv2421534 11 107158291 107176811 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107933,essv5153433,essv5027635,essv5155658,essv5059998,essv5138787,essv5129495,essv5113629,essv5157342,essv5088865,essv5068836,essv5070497,essv5015217,essv5116553,essv5098644,essv5031560,essv5004033 M 1184 17 0 SLC35F2 NA06986,NA06997,NA10840,NA10865,NA11891,NA12287,NA12752,NA12760,NA18603,NA20127,NA20128,NA20787,NA20795,NA20802,NA20887,NA20891,NA20907 nsv442244 11 107158953 107176398 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC35F2 nsv826079 11 107176293 107179598 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434623 S 31 0 1 SLC35F2 NA18570 esv268186 11 107184284 107184631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496717,essv2510704,essv2506054,essv2506560,essv2510959,essv2497043 M 157 6 0 Samples from several populations that are part of the HapMap project. SLC35F2 NA18498,NA18501,NA18523,NA19108,NA19116,NA19190 esv2750980 11 107226151 107476196 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981447,essv6985575,essv6981448 M 771 1 0 CUL5,RAB39,SLC35F2 BEC_229 dgv1314n71 11 107234316 107353193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898381,nsv898382 M 6533 0 3 RAB39,SLC35F2 IS30589,IS32864,IS38015 nsv525122 11 107266760 107271573 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701190 S 2026 0 1 "" nsv478 11 107276242 107295470 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1963 S 9 0 1 "" NA18555 esv2633789 11 107285237 107293424 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353237 S 1 0 1 "" NA18507 nsv820170 11 107287221 107293595 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419772 S 2 0 1 "" AK1 dgv241n67 11 107289268 107293696 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826083,nsv826081,nsv826082,nsv826080 M 31 0 8 "" AK12,AK20,AK4,NA18526,NA18547,NA18570,NA18973,NA18997 esv29422 11 107289508 107293649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15648 S 451 0 7 "" NA11894,NA12044,NA12749,NA12776,NA18508,NA18517,NA19147 nsv442627 11 107289717 107292923 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514591 11 107289848 107292080 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628123 S 1414 0 1 "" nsv479 11 107333692 107364426 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6483 S 9 1 0 RAB39 NA12156 nsv507616 11 107429527 107435527 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620386,nssv623036,nssv619057 M 4 3 0 CUL5 NA10860,NA15510,NA18994 nsv480 11 107488075 107527716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10838,nssv3988 M 9 2 0 ACAT1 NA12878,NA18956 esv2467909 11 107488839 107489628 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376302 S 1 1 0 "" NA18507 esv1515684 11 107489285 107489285 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997541 S 2 1 0 "" HuRef dgv1315n71 11 107574164 107756421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898384,nsv898383 M 6533 0 4 ATM,NPAT IS31090,IS31123,IS31179,IS37059 nsv898385 11 107628399 107670946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501407 S 6533 0 1 ATM SP50870 nsv832262 11 107629041 107814560 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449461,nssv1449463 M 95 0 2 ATM,C11orf65 nsv832263 11 107688582 107889601 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449465,nssv1449464 M 95 2 0 ATM,C11orf65,EXPH5,KDELC2 esv21753 11 107761686 107772882 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16145 S 451 1 0 C11orf65 NA12004 esv1612880 11 107784644 107784644 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218296 S 2 1 0 C11orf65 HuRef nsv898386 11 107914652 108337085 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575309 S 6533 1 0 DDX10,EXPH5 IS33702 nsv898387 11 107946024 108041002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575283 S 6533 1 0 EXPH5 IS33691 nsv898388 11 107946024 108229849 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556367,nssv1541611 M 6533 2 0 DDX10,EXPH5 MS15386,MS21937 nsv832264 11 107954823 108128930 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449468,nssv1449467,nssv1449466,nssv1449469,nssv1449472,nssv1449471,nssv1449470,nssv1449477,nssv1449476,nssv1449475,nssv1449474,nssv1449478 M 95 11 1 DDX10,EXPH5 nsv826084 11 108227493 108228056 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433892 S 31 1 0 DDX10 NA18526 nsv898389 11 108229849 108397196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575284 S 6533 1 0 DDX10 IS33691 nsv39083 11 108291907 108298180 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57661 M 24 DDX10 esv23672 11 108307725 108309335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10269 S 451 0 3 DDX10 NA19190,NA19225,NA19240 esv6431 11 108335200 108335299 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28872 S 1 1 0 "" SJK esv1000897 11 108340267 108340390 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572809 S 3 0 1 "" HuRef esv1781642 11 108340277 108340401 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308685 S 2 0 1 "" HuRef nsv898390 11 108398975 108508746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577650 S 6533 1 0 "" IS34515 nsv437721 11 108425012 108427715 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467602 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 nsv438186 11 108425691 108426533 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470335,nssv470336 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19098,NA19100 nsv481 11 108426481 108451755 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8960 S 9 0 1 "" NA12156 nsv39567 11 108661450 108661450 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58145 M 24 "" nsv525949 11 108695464 108695555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702156 S 2026 0 1 "" esv2559584 11 108869161 108870819 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368926 S 1 0 1 "" NA18507 esv267521 11 108887589 108888159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497294,essv2499228,essv2500791,essv2512808 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18605,NA18973,NA18980 esv24536 11 108902054 108906103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11890 S 451 0 3 "" NA18909,NA19099,NA19114 nsv482 11 109189914 109222798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1037 S 9 1 0 "" NA19240 esv2435869 11 109279840 109281428 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352768 S 1 0 1 "" NA18507 nsv832265 11 109417425 109601340 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449479 S 95 1 0 ZC3H12C nsv523584 11 109422369 109431650 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699373 S 2026 1 0 "" esv2384400 11 109435923 109436390 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905749 S 1 0 1 "" NA18507 esv989513 11 109436130 109436204 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574189 S 3 0 1 "" HuRef esv1225437 11 109436131 109436206 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092431 S 2 0 1 "" HuRef esv2548900 11 109481084 109482779 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171787 S 1 0 1 ZC3H12C NA18507 esv2277863 11 109481726 109482434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959472 S 1 0 1 ZC3H12C NA18507 esv5986 11 109481912 109482232 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28427 S 1 0 1 ZC3H12C SJK esv997753 11 109481913 109482238 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580619 S 3 0 1 ZC3H12C HuRef nsv483 11 109484872 109518365 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1038 S 9 1 0 ZC3H12C NA19240 esv1940879 11 109531872 109532294 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672684 S 1 0 1 ZC3H12C NA18507 nsv39222 11 109532049 109532101 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57800 M 24 ZC3H12C esv999177 11 109532051 109532103 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583316 S 3 0 1 ZC3H12C HuRef nsv484 11 109612000 109626779 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8961 S 9 0 1 RDX NA12156 nsv898391 11 109716704 109822376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577909 S 6533 0 1 FDX1 IS34599 esv268712 11 109782110 109782453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519312,essv2516033,essv2518280 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12873,NA19240 esv273940 11 109782110 109782453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581097 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv485 11 109869270 109899800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9945,nssv10839,nssv3989 M 9 3 0 "" NA12878,NA18507,NA18956 nsv509442 11 109880366 109891582 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619458 S 4 1 0 "" NA10860 esv274182 11 109883062 109889181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580842,essv2578942 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv268121 11 109883066 109889157 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540888,essv2546466,essv2526275,essv2542255,essv2536763,essv2571042,essv2556676,essv2545472,essv2523414,essv2521615,essv2564610,essv2577844,essv2559560,essv2537606,essv2528495,essv2546702,essv2520903,essv2552638,essv2532355,essv2562610,essv2558906,essv2539126,essv2562886,essv2523676,essv2553093,essv2542980,essv2534569,essv2539864,essv2549369,essv2567711,essv2528713,essv2569899,essv2535858,essv2543568,essv2572973,essv2566423,essv2573782,essv2527495,essv2556091,essv2534343,essv2522635,essv2531332,essv2573433,essv2543190,essv2577007,essv2571903,essv2529788,essv2526406,essv2524001,essv2560886,essv2574572,essv2568813,essv2560226,essv2549848,essv2551232,essv2536313,essv2554651,essv2563435 M 157 58 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA10847,NA11831,NA11881,NA11918,NA11919,NA11920,NA11993,NA11994,NA12003,NA12004,NA12144,NA12751,NA12761,NA12776,NA12878,NA12891,NA12892,NA18498,NA18502,NA18505,NA18507,NA18516,NA18519,NA18532,NA18537,NA18542,NA18550,NA18561,NA18563,NA18564,NA18577,NA18579,NA18593,NA18608,NA18870,NA18942,NA18948,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19093,NA19114,NA19129,NA19137,NA19138,NA19147,NA19190,NA19225,NA19257 nsv898392 11 109958040 109994697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556637 S 6533 0 1 ARHGAP20 MS22104 nsv468868 11 109960086 109989761 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543927 S 1557 0 1 ARHGAP20 1780854518_A nsv898393 11 109982422 110021820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583795,nssv1567033 M 6533 0 2 ARHGAP20 IS31041,IS36656 esv21558 11 109994148 109998068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14273,esv18466 M 451 0 3 ARHGAP20 NA12828,NA12878,NA19240 esv1311954 11 109995059 109995289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600511 S 2 0 1 ARHGAP20 HuRef dgv242n67 11 110005029 110005520 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826085,nsv826087 M 31 0 2 ARHGAP20 AK18,NA18973 nsv832266 11 110036221 110216712 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449481,nssv1449480 M 95 2 0 ARHGAP20 nsv826088 11 110086314 110089654 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433079 S 31 1 0 ARHGAP20 NA18972 nsv436128 11 110129328 110134738 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466673 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv507617 11 110153827 110159827 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623041,nssv617821 M 4 2 0 "" CHM,NA18994 nsv486 11 110177071 110210490 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1040 S 9 1 0 "" NA19240 nsv487 11 110294179 110324351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5376 S 9 1 0 "" NA19129 esv1010016 11 110319244 110326664 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563625 S 3 0 1 "" HuRef nsv832267 11 110372794 110561769 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449482 S 95 1 0 "" nsv489 11 110376946 110421627 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8962 S 9 0 1 "" NA12156 esv23850 11 110395355 110396060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10155 S 451 0 1 "" NA18523 nsv525209 11 110418450 110421825 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701291 S 2026 1 0 "" nsv468869 11 110418450 110448346 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543928 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00860 esv267956 11 110501604 110501715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557297,essv2569307,essv2575065,essv2572735 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18508,NA19102,NA19143 esv2453859 11 110534271 110536362 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351353 S 1 0 1 "" NA18507 nsv832268 11 110687546 110899259 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449483 S 95 0 1 BTG4,C11orf88,MIR34B,MIR34C,MIR4491,POU2AF1 nsv490 11 110691107 110735804 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8963 S 9 0 1 MIR4491,POU2AF1 NA12156 nsv39618 11 110728928 110728987 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58196 M 24 POU2AF1 esv28746 11 110795659 110796234 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20482 S 451 1 0 "" NA19225 nsv491 11 110798157 110824167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6484 S 9 0 1 "" NA12156 nsv510273 11 110979346 110985346 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621322 S 4 0 1 SIK2 NA15510 nsv832269 11 111065480 111255881 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449485 S 95 0 1 ALG9,C11orf1,FDXACB1,PPP2R1B,SIK2 nsv492 11 111157075 111190002 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3990 S 9 1 0 ALG9 NA12878 nsv482162 11 111284560 111287683 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558523 S 1 0 1 CRYAB KB1 esv1623207 11 111513252 111513252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931622 S 2 1 0 "" HuRef esv269559 11 111517636 111517721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519003 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv519192 11 111536834 111569349 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696675 S 2026 1 0 BCO2,IL18,TEX12 nsv525636 11 111548824 111568464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701790 S 2026 0 1 BCO2 esv267831 11 111589798 111590444 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514107,essv2518488,essv2518187,essv2516071 M 157 4 0 Samples from several populations that are part of the HapMap project. BCO2 NA12043,NA12287,NA12872,NA12873 nsv493 11 111590883 111592619 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10841 S 9 1 0 BCO2 NA18956 nsv494 11 111637355 111676894 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8964 S 9 0 1 "" NA12156 esv26775 11 111668808 111673837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20273 S 451 0 1 "" NA12489 esv259935 11 111710538 111712545 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398864,essv2399136 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18582,NA18609 dgv243n67 11 111710587 111712415 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826090,nsv826089 M 31 2 0 "" AK18,NA18582 esv24302 11 111929209 111930134 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16119 S 451 2 0 "" NA19190,NA19225 nsv495 11 112039311 112068763 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1964 S 9 0 1 "" NA18555 nsv498771 11 112054854 112058665 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585564 S 9 0 1 "" nsv517298 11 112085787 112092082 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654237,nssv667492 M 2026 2 0 "" nsv496 11 112098165 112134890 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5377,nssv1965 M 9 2 0 "" NA18555,NA19129 esv22521 11 112119389 112119855 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20029 S 451 0 1 "" NA12239 esv2622317 11 112122364 112123901 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379758 S 1 0 1 "" NA18507 esv2110222 11 112122784 112123548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780082 S 1 0 1 "" NA18507 esv8363 11 112122957 112123373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30804 S 1 0 1 "" SJK esv22664 11 112204012 112204712 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14731 S 451 0 1 "" NA18916 nsv832271 11 112348013 112383857 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449501,nssv1449502,nssv1449500,nssv1449487,nssv1449486,nssv1449489,nssv1449499,nssv1449488,nssv1449492,nssv1449491,nssv1449498,nssv1449490,nssv1449494,nssv1449493,nssv1449497,nssv1449496 M 95 16 0 NCAM1 nsv526604 11 112390291 112433374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702924 S 2026 0 1 NCAM1 nsv468870 11 112414065 112455992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543929 S 1557 0 1 NCAM1 NINDS_69 nsv832272 11 112430501 112607964 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449503 S 95 1 0 NCAM1 esv24924 11 112492599 112495236 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19396 S 451 0 2 NCAM1 NA18517,NA18858 nsv516224 11 112493084 112493446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662460,nssv666919,nssv662805,nssv686239,nssv670225,nssv657979,nssv658868,nssv673470,nssv681966,nssv691533 M 2026 0 10 NCAM1 nsv515828 11 112538116 112570503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664912,nssv688254 M 2026 0 2 NCAM1 nsv515795 11 112772031 112778135 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674627,nssv693486,nssv675081,nssv673389,nssv674741,nssv678843,nssv665487,nssv682394,nssv663812,nssv664816,nssv684686,nssv687925,nssv680956,nssv687146,nssv691216,nssv688020,nssv690263,nssv682317,nssv665163,nssv658707,nssv672236,nssv674969,nssv669920,nssv656198,nssv659262,nssv677211,nssv671512,nssv658966 M 2026 0 28 ANKK1 nsv898394 11 112803549 112846601 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554165 S 6533 0 1 DRD2,MIR4301 MS20630 nsv523683 11 112846601 112852165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699487 S 2026 0 1 DRD2 nsv39055 11 112871496 112872036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57633 M 24 "" nsv819871 11 112994393 112997586 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419519 S 2 0 1 "" AK1 esv2119584 11 113003070 113003430 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852578 S 1 0 1 "" NA18507 nsv820035 11 113144048 113144998 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419133 S 2 0 1 ZW10 AK1 nsv832273 11 113159963 113333516 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449504 S 95 0 1 HTR3B,USP28 nsv497 11 113219961 113252116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1041 S 9 1 0 USP28 NA19240 nsv826091 11 113434326 113438976 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433080 S 31 1 0 ZBTB16 NA18972 nsv521857 11 113610805 113634267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694631 S 2026 0 1 ZBTB16 nsv498 11 113613716 113636589 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5378 S 9 0 1 ZBTB16 NA19129 esv2001202 11 113625239 113625787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867243 S 1 0 1 ZBTB16 NA18507 nsv818865 11 113627219 113628907 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417721 S 112 1 0 "" NA18999 nsv898395 11 113661528 113688347 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582161 S 6533 1 0 NNMT IS35802 esv271971 11 113690130 113690215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513772 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv898396 11 113728787 113887182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598229 S 6533 1 0 C11orf71,RBM7,REXO2 IS41189 nsv526581 11 113795579 113797224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702899 S 2026 0 1 "" dgv440e1 11 113877495 114024335 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv316,essv6114 M 271 0 0 FAM55A,FAM55D NA18532 esv2400658 11 113902188 113902647 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732584 S 1 0 1 FAM55A NA18507 esv2543979 11 113902371 113902440 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202327 S 1 0 1 FAM55A NA18507 nsv38546 11 113902373 113902442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57124 M 24 FAM55A nsv832274 11 113911114 114061876 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449505,nssv1449509,nssv1449508,nssv1449507 M 95 4 0 FAM55A,FAM55B,FAM55D nsv512241 11 113928893 113937208 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624813 S 1 0 1 FAM55A 1 esv2436910 11 113929060 113937576 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212085 S 1 0 1 FAM55A NA18507 esv2302049 11 113929927 113937303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602149 S 1 0 1 FAM55A NA18507 esv7013 11 113930118 113937137 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29454 S 1 0 1 FAM55A SJK esv26910 11 113942144 113943316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19982 S 451 0 1 "" NA19108 dgv1316n71 11 113947313 113995018 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898397,nsv898398 M 6533 0 2 FAM55D MS11306,MS11467 nsv898399 11 113971127 114026477 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534579 S 6533 0 1 FAM55D MS11669 nsv8873 11 113972770 114022624 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19976,nssv20505,nssv18622,nssv19584,nssv20455,nssv20298,nssv23585 M 31 7 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18564,NA18942,NA18972,NA18975,NA18980,NA19007 esv2525295 11 113975750 114016888 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332527 S 1 0 1 "" NA18507 nsv517300 11 113976286 114017837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671959,nssv686287,nssv659240,nssv678684,nssv654251,nssv685237,nssv681245 M 2026 0 7 "" esv1288642 11 113977528 113977528 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213571 S 2 1 0 "" HuRef esv1571509 11 114008741 114008741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727877 S 2 1 0 "" HuRef esv29908 11 114016281 114047254 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20501,esv13100 M 451 1 1 "" NA12414,NA12489 nsv507618 11 114021139 114027139 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617822 S 4 1 0 "" CHM nsv832275 11 114056337 114121069 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449511,nssv1449510 M 95 2 0 FAM55B nsv500 11 114109336 114133189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9276 S 9 1 0 "" NA18517 nsv832276 11 114114090 114292962 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449512 S 95 0 1 "" esv2459374 11 114118897 114119999 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287848 S 1 1 0 "" NA18507 nsv523896 11 114120247 114126679 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699739 S 2026 1 0 "" nsv518838 11 114177129 114187583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696291 S 2026 0 1 "" esv269398 11 114191361 114191634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511188,essv2495292,essv2512218,essv2503764,essv2508986,essv2497360,essv2500016,essv2505175,essv2493966,essv2495182,essv2505633,essv2506675 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA11992,NA12155,NA12761,NA18522,NA18545,NA18558,NA18853,NA18871,NA18964,NA19005,NA19108 nsv832277 11 114281321 114426980 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449513 S 95 1 0 "" nsv898400 11 114308875 114374961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536683 S 6533 0 1 "" MS12905 nsv8874 11 114326690 114331172 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20328 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 dgv244n67 11 114327496 114330607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826092,nsv826093 M 31 0 3 "" AK16,NA18564,NA18968 esv1435294 11 114337096 114337096 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690821 S 2 1 0 "" HuRef esv1227641 11 114337132 114337132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174629 S 2 1 0 "" HuRef esv7448 11 114453535 114453612 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29889 S 1 1 0 "" SJK esv275439 11 114466290 114470895 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586038 S 1250 0 1 "" nsv39374 11 114467155 114467724 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57952 M 24 "" nsv501 11 114480198 114515605 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3991 S 9 1 0 "" NA12878 esv26276 11 114522997 114524897 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20824 S 451 1 0 "" NA12776 nsv468871 11 114646666 114687540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543930 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CADM1 HGDP00644 nsv502 11 114678042 114709414 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5379 S 9 1 0 CADM1 NA19129 esv1078257 11 114704637 114704637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885502 S 2 1 0 CADM1 HuRef esv7788 11 114707861 114707960 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30229 S 1 1 0 CADM1 SJK nsv832278 11 114748953 114907315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449514 S 95 1 0 CADM1 nsv525753 11 114805709 114807081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701921 S 2026 0 1 CADM1 nsv525450 11 114892659 114918203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701578 S 2026 0 1 "" esv2750981 11 114988378 115246794 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983325,essv6983326,essv6983327,essv6988656 M 771 1 0 LOC283143 BEC_639 nsv898401 11 115029347 115104280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577804 S 6533 0 1 "" IS34572 nsv508656 11 115149071 115230509 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622596 S 4 0 1 "" NA18994 esv21831 11 115164963 115165862 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20209 S 451 0 1 "" NA18916 nsv510274 11 115200532 115206532 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618351,nssv622129,nssv621325 M 4 0 3 "" CHM,NA10860,NA15510 nsv510275 11 115257519 115263519 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618352 S 4 0 1 "" CHM esv988084 11 115292188 115297643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565571 S 3 0 1 "" HuRef nsv503 11 115324907 115359208 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3992 S 9 1 0 "" NA12878 esv1002464 11 115454705 115454714 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571269 S 3 1 0 "" HuRef esv1223860 11 115454715 115454715 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872229 S 2 1 0 "" HuRef nsv39732 11 115454716 115454716 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58310 M 24 "" esv2462034 11 115506495 115507442 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312917 S 1 1 0 "" NA18507 esv1499916 11 115506871 115506871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098140 S 2 1 0 "" HuRef nsv504 11 115555069 115589544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2872 S 9 1 0 "" NA18555 esv270963 11 115563446 115563531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517502 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 nsv507619 11 115582249 115588249 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619058,nssv623049,nssv620401 M 4 3 0 "" NA10860,NA15510,NA18994 nsv832279 11 115593837 115757316 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449515 S 95 0 1 "" nsv505 11 115630707 115662757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5381 S 9 1 0 "" NA19129 nsv506 11 115674527 115698265 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9825 S 9 1 0 "" NA18507 esv269329 11 115696121 115696328 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502869,essv2503417,essv2495094,essv2499550 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA12156,NA12716 nsv516720 11 115712512 115749078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693527,nssv670434 M 2026 0 2 "" esv26387 11 115721945 115724650 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20325 S 451 0 4 "" NA12749,NA18909,NA18916,NA19099 nsv525881 11 115760668 115793119 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702081 S 2026 1 0 "" esv1616879 11 116049687 116049687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042868 S 2 1 0 "" HuRef esv1709983 11 116049769 116049769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125117 S 2 1 0 "" HuRef esv989766 11 116063922 116063922 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583404 S 3 1 0 "" HuRef nsv507 11 116139429 116179996 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1042 S 9 0 1 APOA5,BUD13,ZNF259 NA19240 nsv498772 11 116173575 116178901 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585575 S 9 0 1 "" esv21843 11 116174526 116178882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15586 S 451 0 1 "" NA19240 nsv514595 11 116174784 116177568 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628124 S 1414 0 1 "" esv2480784 11 116188009 116188874 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201508 S 1 1 0 "" NA18507 esv1178702 11 116188384 116188384 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817709 S 2 1 0 "" HuRef nsv898402 11 116212925 116392918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515124 S 6533 1 0 APOA1,SIK3 SP56125 esv2346148 11 116217496 116218165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553773 S 1 0 1 "" NA18507 esv24446 11 116241050 116242308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14991 S 451 0 1 SIK3 NA12489 nsv832280 11 116250687 116416874 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449516,nssv1449519 M 95 1 1 SIK3 nsv898403 11 116272109 116392918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500960 S 6533 1 0 SIK3 SP50915 esv1183056 11 116323116 116323116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894230 S 2 1 0 SIK3 HuRef nsv507620 11 116328416 116334416 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617823 S 4 1 0 SIK3 CHM esv267714 11 116351142 116351512 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499383,essv2501669,essv2510710,essv2504126,essv2509870,essv2496442,essv2496222,essv2501144,essv2508736,essv2501563,essv2507542,essv2505227,essv2505829,essv2507177,essv2495646,essv2501399,essv2498950,essv2498678,essv2499658,essv2502142,essv2513130 M 157 21 0 Samples from several populations that are part of the HapMap project. SIK3 NA10847,NA11994,NA12144,NA18501,NA18505,NA18508,NA18510,NA18511,NA18516,NA18532,NA18608,NA18638,NA18853,NA18861,NA18870,NA18916,NA19093,NA19114,NA19138,NA19225,NA19257 dgv245n67 11 116385936 116387063 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826094,nsv826095 M 31 0 5 SIK3 AK2,AK6,NA18947,NA18951,NA18972 nsv7223 11 116470517 116585616 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3993 S 9 0 0 PAFAH1B2,PCSK7,SIDT2,SIK3,TAGLN NA12878 esv33272 11 116507164 116515730 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95056,essv95105,essv94740,essv94805,essv97858,essv95408,essv96485,essv96461,essv100177 M 51 0 6 "" 21721,21791,21837,21872,22261,22286 nsv39763 11 116538909 116538909 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58341 M 24 PAFAH1B2 nsv518908 11 116556375 116571900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696368 S 2026 0 1 SIDT2 nsv524270 11 116556375 116590480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700168 S 2026 0 1 PCSK7,SIDT2,TAGLN nsv516483 11 116609746 116661762 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668718,nssv674077,nssv668659,nssv688324,nssv661824,nssv663694,nssv683181 M 2026 7 0 BACE1,RNF214 nsv509443 11 116631047 116669367 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619478 S 4 1 0 BACE1,BACE1-AS,RNF214 NA10860 nsv513334 11 116636532 116637114 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625725 S 1 1 0 RNF214 1 dgv246n67 11 116686471 116688178 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826098,nsv826096 M 31 0 2 BACE1 NA18969,NA18973 nsv39790 11 116696461 116696618 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58368 M 24 "" nsv517908 11 116765285 116768313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694179 S 2026 0 1 CEP164 nsv39581 11 116783408 116792372 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58159 M 24 CEP164 nsv832282 11 116840133 117041492 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449520 S 95 1 0 DSCAML1 nsv521775 11 116847018 116858213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694541 S 2026 0 1 DSCAML1 esv1008110 11 116933398 116939587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564132 S 3 0 1 DSCAML1 HuRef nsv898404 11 116937989 116956466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534810 S 6533 0 1 DSCAML1 MS11728 esv275216 11 116941666 116946217 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585836,essv2586031 M 1250 1 1 DSCAML1 nsv508 11 116955013 117018964 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1043,nssv8965 M 9 2 0 DSCAML1 NA12156,NA19240 nsv519857 11 117029753 117030086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678904,nssv685899,nssv693183,nssv659111 M 2026 0 4 DSCAML1 nsv527773 11 117030086 117030630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704263 S 2026 0 1 DSCAML1 nsv509 11 117056315 117089029 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5382 S 9 1 0 DSCAML1 NA19129 esv1005765 11 117120727 117128650 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564916 S 3 0 1 DSCAML1 HuRef nsv826099 11 117171163 117173915 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433082 S 31 1 0 DSCAML1 NA18972 dgv1317n71 11 117179565 117207900 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898406,nsv898405 M 6533 0 2 FXYD2,FXYD6-FXYD2 MS10311,MS17208 esv1353123 11 117188716 117188716 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735805 S 2 1 0 "" HuRef nsv517470 11 117191404 117205088 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681593,nssv690976,nssv673581,nssv673156,nssv652115,nssv663695,nssv698365,nssv683878,nssv664156,nssv674769,nssv697154,nssv673614,nssv669787,nssv705888,nssv657802,nssv663119,nssv704517 M 2026 0 17 FXYD2,FXYD6-FXYD2 nsv526267 11 117191404 117213147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702540 S 2026 0 1 FXYD2,FXYD6,FXYD6-FXYD2 nsv525055 11 117335639 117337019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701103 S 2026 0 1 "" nsv898407 11 117345054 117364419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510037 S 6533 0 1 IL10RA SP54956 esv271943 11 117379456 117379779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493969,essv2502242 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA19257 nsv509444 11 117409363 117493461 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620901 S 4 1 0 LOC100526771,TMPRSS4 NA15510 esv998313 11 117422341 117426841 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564633 S 3 1 0 LOC100526771 HuRef dgv1318n71 11 117450842 117538755 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898410,nsv898408,nsv898409,nsv898411 M 6533 4 0 LOC100526771,SCN2B,SCN4B,TMPRSS4 MS13871,MS24031,SP53256,SP81363 nsv468878 11 117452908 117537452 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543932 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100526771,SCN4B,TMPRSS4 HGDP00244 nsv515768 11 117465637 117467118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685028,nssv678720,nssv664722 M 2026 0 3 TMPRSS4 esv275347 11 117494764 117500587 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585823 S 1250 0 1 TMPRSS4 nsv898412 11 117504653 117538755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563589 S 6533 1 0 SCN2B,SCN4B MS26120 nsv519116 11 117521249 117539411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696592 S 2026 0 1 SCN2B,SCN4B nsv511 11 117580362 117615351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3994 S 9 1 0 AMICA1,MPZL3 NA12878 nsv510276 11 117640840 117646840 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618353,nssv622134,nssv621330 M 4 0 3 "" CHM,NA10860,NA15510 nsv820176 11 117723395 117725795 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419426 S 2 0 1 CD3G AK1 esv24734 11 117787247 117787786 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19502 S 451 0 1 "" NA19240 nsv512 11 117791937 117821546 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5383 S 9 1 0 MLL NA19129 esv1000696 11 117796780 117798124 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565222 S 3 1 0 "" HuRef nsv826100 11 117810779 117813980 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433083 S 31 1 0 MLL NA18972 esv271650 11 117841015 117841167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510276,essv2495404,essv2499433,essv2495316,essv2495910,essv2496237,essv2493653,essv2506284,essv2498639,essv2509299,essv2495520,essv2503121,essv2497944,essv2493108,essv2500546,essv2498988,essv2497729 M 157 17 0 Samples from several populations that are part of the HapMap project. MLL NA10851,NA11919,NA12044,NA12287,NA12489,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA18943,NA18945,NA18951,NA18956,NA19114,NA19147 nsv513 11 117864441 117891313 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3996 S 9 1 0 MLL NA12878 dgv1319n71 11 117896585 118093929 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898414,nsv898413 M 6533 0 3 ARCN1,IFT46,MLL,PHLDB1,TMEM25,TREH,TTC36 IS32891,IS41894,MS22898 nsv819037 11 117897846 117898310 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418963 S 2 0 1 MLL AK1 nsv7224 11 117940624 117946970 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5384 S 9 0 0 IFT46 NA19129 nsv832283 11 117942715 118162403 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449521 S 95 0 1 ARCN1,DDX6,PHLDB1,TREH nsv898415 11 117982577 118055994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546804 S 6533 0 1 PHLDB1,TREH MS17208 esv25329 11 117983997 117987962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16824 S 451 0 1 PHLDB1 NA07045 nsv527864 11 117986641 118033634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704362 S 2026 0 1 PHLDB1 esv1417239 11 118058937 118058937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129388 S 2 1 0 "" HuRef nsv513335 11 118183297 118183666 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625726 S 1 1 0 "" 1 dgv7e194 11 118251419 118251909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2029384,esv2216034 M 1 0 1 "" NA18507 esv998992 11 118251572 118251653 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571467 S 3 0 1 "" HuRef esv1695691 11 118251615 118251697 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738620 S 2 0 1 "" HuRef esv259664 11 118323704 118324041 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393878 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv260010 11 118323714 118324065 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400336,essv2398900,essv2396240,essv2400565,essv2398074,essv2399964,essv2399706,essv2401091,essv2395662,essv2395711,essv2400686,essv2395486,essv2400852,essv2395048,essv2397171,essv2396870,essv2400152,essv2396212,essv2395862,essv2395439,essv2398190,essv2397102,essv2395813,essv2397003,essv2399306,essv2399812 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11995,NA12006,NA12043,NA12144,NA12156,NA12828,NA12891,NA18501,NA18532,NA18542,NA18563,NA18564,NA18571,NA18572,NA18579,NA18608,NA18944,NA18945,NA18948,NA18949,NA18951,NA18961,NA18973,NA19102,NA19129 nsv819166 11 118334239 118354717 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418684 S 2 0 1 FOXR1,UPK2 AK1 nsv826101 11 118393733 118395089 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433084 S 31 1 0 MIR3656,RPS25,TRAPPC4 NA18972 nsv516013 11 118407959 118408051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666066,nssv684451,nssv676500,nssv673431,nssv665723,nssv684900,nssv658609,nssv660553 M 2026 0 8 "" nsv898416 11 118424416 118535962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592277 S 6533 0 1 ABCG4,C2CD2L,DPAGT1,H2AFX,HINFP,HMBS,HYOU1,VPS11 IS39233 nsv819696 11 118425644 118426368 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419073 S 2 0 1 HYOU1 AK1 nsv510277 11 118435456 118441456 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618354,nssv622135 M 4 0 2 "" CHM,NA10860 nsv826102 11 118469626 118472236 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433085 S 31 1 0 H2AFX NA18972 nsv468879 11 118481929 118564614 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543933 S 1557 0 1 ABCG4,C2CD2L,HINFP,NLRX1,PDZD3 NINDS_60 nsv514 11 118490472 118519137 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8966 S 9 0 1 C2CD2L,HINFP NA12156 esv2519793 11 118629041 118629972 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391509 S 1 1 0 CBL NA18507 esv1143209 11 118629468 118629468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612447 S 2 1 0 CBL HuRef nsv898417 11 118677746 118723740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592278 S 6533 0 1 C1QTNF5,CBL,MCAM,MFRP,RNF26 IS39233 nsv898418 11 118677746 118804618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530742 S 6533 0 1 C1QTNF5,CBL,LOC100499227,MCAM,MFRP,RNF26,THY1,USP2 MS10311 nsv525043 11 118683850 118684217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701087 S 2026 0 1 CBL nsv528636 11 118683850 118684217 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705267 S 2026 1 0 CBL nsv826103 11 118698237 118743880 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439165 S 31 1 0 C1QTNF5,MFRP,RNF26,USP2 NA18973 nsv826104 11 118710332 118711039 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422067 S 31 1 0 RNF26 NA18997 nsv522705 11 118711040 118713138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706117 S 2026 0 1 RNF26 esv2599160 11 118727198 118727811 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263770 S 1 1 0 "" NA18507 nsv832284 11 118742860 118913835 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449522,nssv1449523 M 95 2 0 LOC100499227,THY1,USP2 esv33796 11 118745287 118748038 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93380 S 51 1 0 USP2 22170 esv2153928 11 118846859 118847314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548044 S 1 0 1 LOC100499227 NA18507 nsv38588 11 118862201 118871373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57166 M 24 LOC100499227 nsv515 11 118863468 118908077 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4627 S 9 0 1 LOC100499227 NA19129 nsv509445 11 118985166 119071092 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619489 S 4 1 0 PVRL1 NA10860 nsv898419 11 118993856 119023216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543618 S 6533 0 1 PVRL1 MS16153 nsv898420 11 118993856 119046542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546805 S 6533 0 1 PVRL1 MS17208 nsv898421 11 119004224 119136535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530743 S 6533 0 1 PVRL1 MS10311 nsv898422 11 119023216 119106989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529856 S 6533 0 1 PVRL1 MS10123 nsv513336 11 119024178 119024385 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625727 S 1 1 0 PVRL1 1 nsv898423 11 119046542 119164963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538669 S 6533 0 1 PVRL1 MS13770 nsv468880 11 119069706 119093272 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543934 S 1557 0 1 PVRL1 NINDS_166 nsv528824 11 119155315 119167019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705498 S 2026 0 1 "" nsv38820 11 119224710 119224997 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57398 M 24 "" nsv516 11 119253374 119278807 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8967 S 9 1 0 "" NA12156 esv275318 11 119281021 119290570 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586090,essv2585216 M 1250 1 1 "" nsv832285 11 119294805 119462934 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449524 S 95 1 0 "" nsv513337 11 119313721 119314777 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625728 S 1 1 0 "" 1 esv2542864 11 119314110 119314668 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167073 S 1 1 0 "" NA18507 esv1557787 11 119314327 119314327 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214394 S 2 1 0 "" HuRef nsv524406 11 119378614 119398389 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700325 S 2026 1 0 "" nsv508657 11 119396788 119476422 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620007 S 4 0 1 "" NA15510 esv2578787 11 119424175 119425685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196048 S 1 0 1 "" NA18507 esv6275 11 119437527 119437890 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28716 S 1 0 1 "" SJK esv1003711 11 119437869 119437869 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567243 S 3 1 0 "" HuRef esv1016365 11 119437870 119437870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994734 S 2 1 0 "" HuRef nsv517 11 119455958 119471236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10843 S 9 1 0 "" NA18956 esv23396 11 119456077 119462136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11932 S 451 0 4 "" NA07037,NA11894,NA12749,NA12776 nsv821369 11 119456077 119462136 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420961 S 1 0 1 "" NA10851 esv987901 11 119457747 119461334 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564092 S 3 0 1 "" HuRef esv1007400 11 119457895 119460022 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584083 S 3 0 1 "" HuRef esv1002537 11 119457921 119461626 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586457 S 3 0 1 "" HuRef esv1680021 11 119457930 119460058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772418 S 2 0 1 "" HuRef esv1161796 11 119460236 119461013 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263341 S 2 0 1 "" HuRef esv1220959 11 119461099 119461210 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842689 S 2 0 1 "" HuRef nsv518463 11 119528715 119531958 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695901 S 2026 1 0 "" nsv518464 11 119545652 119615177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695902 S 2026 0 1 OAF esv27504 11 119578548 119579874 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16275 S 451 0 3 "" NA18523,NA19108,NA19240 nsv518 11 119579189 119613359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8968 S 9 1 0 OAF NA12156 esv2612935 11 119619359 119620478 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203984 S 1 1 0 POU2F3 NA18507 esv2550380 11 119642943 119643989 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287004 S 1 1 0 POU2F3 NA18507 nsv522706 11 119679055 119683842 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706118 S 2026 0 1 POU2F3 nsv39754 11 119699614 119699905 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58332 M 24 "" esv2457390 11 119704395 119704929 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172127 S 1 1 0 TMEM136 NA18507 esv2549681 11 119704626 119704836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176906 S 1 0 1 TMEM136 NA18507 esv1582263 11 119704627 119704627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090175 S 2 1 0 TMEM136 HuRef esv2533688 11 119704860 119704934 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224694 S 1 0 1 TMEM136 NA18507 nsv529003 11 119714596 119860440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705710 S 2026 0 1 ARHGEF12 esv6844 11 119757865 119757955 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29285 S 1 1 0 ARHGEF12 SJK nsv519 11 119771717 119804617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1044 S 9 1 0 ARHGEF12 NA19240 nsv520 11 119834963 119869154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1045 S 9 1 0 ARHGEF12 NA19240 nsv826105 11 119885840 119891031 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433087 S 31 1 0 "" NA18972 nsv826106 11 119892844 119893539 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438355 S 31 0 1 "" NA18951 esv22400 11 119893011 119893591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18335 S 451 0 4 "" NA12414,NA18909,NA19129,NA19240 nsv468881 11 119952040 120056310 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543935 S 1557 1 0 GRIK4 1780854441_A esv267390 11 119989930 119990015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515647 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 esv27851 11 120053125 120053595 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12391 S 451 1 0 GRIK4 NA12749 nsv832286 11 120091053 120251056 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449525 S 95 0 1 GRIK4 nsv522869 11 120113295 120113871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698524 S 2026 0 1 GRIK4 nsv524900 11 120147908 120150421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700909 S 2026 0 1 GRIK4 esv28495 11 120164280 120170463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17875 S 451 0 1 GRIK4 NA18511 esv2600363 11 120251845 120252601 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195066 S 1 1 0 GRIK4 NA18507 nsv523053 11 120294718 120295062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698736 S 2026 0 1 GRIK4 nsv523 11 120341562 120375049 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8969 S 9 1 0 GRIK4 NA12156 nsv524651 11 120446793 120459979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700618 S 2026 0 1 TBCEL nsv524 11 120468713 120513377 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8970 S 9 0 1 TECTA NA12156 nsv525 11 120555963 120590826 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1046 S 9 1 0 TECTA NA19240 esv25267 11 120561119 120562315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11143 S 451 0 10 TECTA NA11894,NA11995,NA12004,NA12006,NA12156,NA12414,NA12489,NA12828,NA12878,NA18909 dgv1320n71 11 120614075 120720447 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898425,nsv898424 M 6533 2 0 SC5DL IS34770,MS17642 nsv898426 11 120641814 120711564 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555617 S 6533 1 0 SC5DL MS21465 esv2550212 11 120705064 120705282 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267664 S 1 1 0 "" NA18507 nsv513338 11 120705140 120705553 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625729 S 1 1 0 "" 1 nsv898427 11 120804498 120916251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527750 S 6533 1 0 SORL1 SP80967 nsv7225 11 120817546 120851750 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6485 S 9 0 0 SORL1 NA12156 esv24898 11 120856427 120857897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20951 S 451 0 2 SORL1 NA12878,NA18858 esv1624966 11 120856652 120856652 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627420 S 2 1 0 SORL1 HuRef nsv512242 11 120856806 120860128 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624814 S 1 0 1 SORL1 1 nsv522474 11 120862178 120941480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705839 S 2026 0 1 SORL1 nsv526 11 120882680 120887058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8971 S 9 1 0 SORL1 NA12156 esv2566564 11 120903036 120904507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348977 S 1 0 1 SORL1 NA18507 nsv527072 11 120953300 120991762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703451 S 2026 0 1 SORL1 esv34768 11 120957861 121040148 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990264,essv6978636 M 771 1 0 SORL1 NA12056 esv27517 11 120962303 120962812 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20188 S 451 0 1 SORL1 NA18858 nsv818867 11 120978203 121040148 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416264 S 112 1 0 SORL1 NA12056 dgv441e1 11 120978808 121045852 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18688,esv1197 M 271 0 0 SORL1 NA12056 nsv8875 11 120991361 120994811 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20519 S 31 1 0 Samples from several populations that are part of the HapMap project. SORL1 NA19173 nsv898428 11 121073472 121177186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572220,nssv1579184 M 6533 0 2 "" IS32891,IS35028 nsv832287 11 121080589 121227945 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449526 S 95 0 1 "" esv26565 11 121089777 121091362 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17895 S 451 2 0 "" NA12004,NA19190 nsv518668 11 121098595 121109866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696117 S 2026 0 1 "" nsv38612 11 121141630 121141681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57190 M 24 "" esv2587912 11 121208700 121209920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231756 S 1 0 1 "" NA18507 esv267728 11 121238092 121238384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509163,essv2506420,essv2510460 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18909,NA19108,NA19172 esv1008490 11 121307007 121307007 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577742 S 3 1 0 "" HuRef esv1353662 11 121307008 121307008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335906 S 2 1 0 "" HuRef nsv39116 11 121307008 121307008 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57694 M 24 "" nsv898429 11 121338455 121402972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532271,nssv1562509 M 6533 0 2 "" MS10737,MS25617 nsv39530 11 121364432 121364432 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58108 M 24 "" esv1443493 11 121392795 121392845 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366662 S 2 0 1 "" HuRef esv269706 11 121430989 121431165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497157 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 dgv17n68 11 121467901 121712630 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832289,nsv832288 M 95 2 0 BLID,MIR100,MIR100HG,MIR125B1,MIRLET7A2 nsv898430 11 121484888 121561537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554799 S 6533 1 0 BLID,MIR100,MIR100HG,MIRLET7A2 MS20997 esv275465 11 121519820 121527735 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585400,essv2586025 M 1250 1 1 MIR100HG,MIRLET7A2 esv274332 11 121558744 121559081 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581691,essv2582656 M 7 2 0 Samples from several populations that are part of the HapMap project. MIR100HG NA12878,NA12891 nsv898431 11 121628523 121989322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554800 S 6533 1 0 "" MS20997 esv270681 11 121799527 121799612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519043 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv274477 11 121805571 121805687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580634 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268109 11 121805585 121805699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500870,essv2503236,essv2496675,essv2511228,essv2512472,essv2499483,essv2495313,essv2508828,essv2500331,essv2502818,essv2496612,essv2511924,essv2494159,essv2493306,essv2504251,essv2509877,essv2496391,essv2496207,essv2508240,essv2498420,essv2505958,essv2513552,essv2509350,essv2495733,essv2503098,essv2497906,essv2503460,essv2512281,essv2493118,essv2500520,essv2497415,essv2495194,essv2502746,essv2505604,essv2504626,essv2506574,essv2499151,essv2499818,essv2503869,essv2511577,essv2504371,essv2499598 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07347,NA07357,NA11830,NA11881,NA11894,NA11931,NA12043,NA12044,NA12287,NA12878,NA12891,NA12892,NA18486,NA18499,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18561,NA18858,NA18861,NA18907,NA18909,NA18916,NA18943,NA18945,NA18947,NA18949,NA18951,NA18956,NA18959,NA18964,NA18965,NA19005,NA19099,NA19108,NA19114,NA19225 esv991592 11 121851552 121855345 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564542 S 3 0 1 "" HuRef esv2427576 11 121852042 121855163 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386216 S 1 0 1 "" NA18507 nsv512243 11 121852390 121855000 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624815 S 1 0 1 "" 1 esv2288259 11 121852588 121854701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687537 S 1 0 1 "" NA18507 esv6821 11 121852771 121854518 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29262 S 1 0 1 "" SJK esv1076621 11 121852786 121854490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272051 S 2 0 1 "" HuRef nsv38950 11 121852787 121854490 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57528 M 24 "" nsv508658 11 121899263 121971663 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622601 S 4 0 1 "" NA18994 esv272048 11 121948173 121948519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516454,essv2519006,essv2518265 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA19141,NA19240 esv273085 11 121948173 121948519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581133 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv898432 11 121995210 122030518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504514 S 6533 0 1 "" SP52559 dgv169n27 11 122063212 122117505 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468882,nsv468884 M 1557 0 2 UBASH3B HGDP00995,HGDP01019 nsv527 11 122103306 122137120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1047 S 9 1 0 UBASH3B NA19240 esv9672 11 122112438 122113267 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32113 S 1 0 0 UBASH3B SJK nsv898433 11 122147065 122286766 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554801 S 6533 1 0 C11orf63,CRTAM,UBASH3B MS20997 esv259643 11 122212365 122212634 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394204,essv2393883 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv520988 11 122243020 122294665 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694502,nssv680165,nssv679214 M 2026 3 0 C11orf63,CRTAM nsv510278 11 122299832 122305832 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618355 S 4 0 1 C11orf63 CHM nsv522969 11 122300898 122304440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698639 S 2026 0 1 C11orf63 dgv442e1 11 122339246 122372360 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13356,esv1018 M 271 0 0 BSX NA19159 nsv8876 11 122346856 122350363 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20284 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv2582275 11 122365487 122365753 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369967 S 1 1 0 "" NA18507 esv274868 11 122649293 122657958 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585181 S 1250 0 1 "" esv2416705 11 122735062 122735468 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932842 S 1 0 1 "" NA18507 nsv39419 11 122735230 122735285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57997 M 24 "" esv267734 11 122746973 122747246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512259,essv2502547,essv2496324,essv2496268,essv2493637,essv2494865,essv2508954,essv2498316,essv2507080,essv2495719,essv2493073,essv2505656,essv2501424,essv2504762,essv2498942,essv2497569,essv2495790,essv2495081 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA12155,NA12750,NA18510,NA18511,NA18517,NA18520,NA18522,NA18526,NA18870,NA18916,NA18951,NA19005,NA19093,NA19099,NA19114,NA19147 dgv443e1 11 122784405 123050005 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv286,essv20073 M 271 0 0 GRAMD1B,SCN3B NA07048 nsv898434 11 122807711 122864518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582048 S 6533 1 0 "" IS35777 nsv518300 11 122900558 122901074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695731 S 2026 0 1 "" nsv528 11 122908057 122939829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10844 S 9 1 0 GRAMD1B NA18956 esv1010432 11 122934459 122948983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563560 S 3 0 1 GRAMD1B HuRef nsv513339 11 122959762 122960488 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625730 S 1 1 0 GRAMD1B 1 esv2603228 11 122960228 122960683 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197129 S 1 1 0 GRAMD1B NA18507 esv1328873 11 123057650 123057713 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979188 S 2 0 1 "" HuRef esv270169 11 123068098 123068436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511795,essv2496544,essv2494997,essv2506058,essv2501060,essv2507116,essv2509455 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18510,NA18520,NA18523,NA18856,NA18870,NA19129 nsv818868 11 123083838 123097449 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417634 S 112 1 0 "" NA18987 esv268430 11 123123497 123123859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512622,essv2498280,essv2500382,essv2503323,essv2497797,essv2500032,essv2494506,essv2510064,essv2499291,essv2512863 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18526,NA18537,NA18542,NA18555,NA18558,NA18572,NA18593,NA18605,NA18609 nsv529 11 123153872 123162147 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8972 S 9 0 1 "" NA12156 nsv510279 11 123186579 123192579 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621334,nssv618356,nssv624072 M 4 0 3 "" CHM,NA15510,NA18994 nsv525836 11 123195542 123199016 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702028 S 2026 1 0 "" esv1168059 11 123271956 123271956 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861363 S 2 1 0 "" HuRef dgv82n21 11 123276969 123664385 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527167,nsv525021 M 2026 2 0 OR10G4,OR10G7,OR10G8,OR10G9,OR10S1,OR4D5,OR6T1,OR8D4,OR8G1,OR8G2,OR8G5,VWA5A nsv518797 11 123321424 123352074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696252 S 2026 0 1 "" nsv898435 11 123354004 123796004 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520938 S 6533 1 0 OR10G4,OR10G7,OR10G8,OR10G9,OR8B2,OR8B3,OR8D1,OR8D2,OR8G1,OR8G2,OR8G5,VWA5A SP51328 esv2582148 11 123390932 123399485 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181677 S 1 0 1 OR10G4,OR10G9 NA18507 nsv516962 11 123419952 123424338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667441,nssv680258,nssv677015,nssv668152,nssv680138,nssv669921,nssv663878,nssv683758,nssv653516,nssv671925,nssv657980,nssv657574,nssv674296,nssv653387 M 2026 0 14 "" esv23550 11 123439382 123441867 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12682 S 451 2 0 "" NA19190,NA19225 nsv38538 11 123547940 123548713 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57116 M 24 "" esv27311 11 123575934 123582388 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16696 S 451 1 0 "" NA18502 dgv247n67 11 123583817 123584839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826109,nsv826107 M 31 0 5 "" AK8,NA18537,NA18564,NA18951,NA18968 esv24722 11 123583988 123584649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19816 S 451 0 3 "" NA18508,NA19129,NA19147 nsv530 11 123590093 123592201 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1968 S 9 1 0 "" NA18555 nsv898436 11 123590672 123605456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513608,nssv1514078,nssv1499179,nssv1500312,nssv1503202,nssv1504459 M 6533 6 0 OR8G2 SP50025,SP50061,SP51506,SP52497,SP55804,SP55915 nsv826110 11 123591356 123600589 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429309,nssv1435174 M 31 2 0 "" AK12,NA18592 nsv442245 11 123592514 123601125 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR8G2 esv24586 11 123614267 123627328 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13039 S 451 1 0 OR8G1 NA19108 nsv826111 11 123624293 123624952 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423659 S 31 1 0 "" NA18999 nsv826112 11 123624293 123625298 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424458 S 31 1 0 "" NA18582 esv1452743 11 123626497 123626497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600650 S 2 1 0 OR8G1 HuRef nsv826113 11 123642482 123747369 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441372 S 31 0 1 OR8D1,OR8D2 NA18969 nsv826114 11 123684271 123684930 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426028,nssv1427730 M 31 2 0 "" AK4,AK8 nsv826115 11 123694430 123695491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423660 S 31 0 1 OR8D2 NA18999 nsv507621 11 123719602 123725602 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620419,nssv623063 M 4 2 0 "" NA15510,NA18994 esv269785 11 123745347 123745697 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513345,essv2510390,essv2512054,essv2498171 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19172,NA19238,NA19240 esv272427 11 123745371 123745654 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583966,essv2583719 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv436130 11 123758690 123775246 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466674 S 2 0 1 Samples from several populations that are part of the HapMap project. OR8B3 NA18505 esv2424130 11 123759090 123774841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353097 S 1 0 1 OR8B3 NA18507 esv259900 11 123818029 123818292 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394746,essv2398473,essv2395778,essv2396226,essv2397560,essv2397798,essv2399244,essv2394918,essv2400948,essv2396303,essv2396855,essv2399418,essv2400116,essv2394689,essv2395363,essv2399992,essv2395891,essv2397738,essv2398761,essv2394807,essv2396341,essv2399671 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11894,NA12004,NA12006,NA12044,NA18505,NA18508,NA18545,NA18547,NA18558,NA18638,NA18858,NA18861,NA18870,NA18916,NA18940,NA18945,NA18956,NA19005,NA19114,NA19138,NA19210 esv8566 11 123818054 123818134 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31007 S 1 1 0 "" SJK esv9018 11 123818181 123818262 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31459 S 1 1 0 "" SJK esv1766540 11 123818183 123818183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787658 S 2 1 0 "" HuRef esv270363 11 123831265 123831539 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508937,essv2500977,essv2507153,essv2507405,essv2506902,essv2502110 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18856,NA18870,NA18912,NA19102,NA19257 nsv507622 11 123840424 123846424 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619059,nssv623067 M 4 2 0 "" NA10860,NA18994 nsv518199 11 123891221 123955190 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695622 S 2026 1 0 OR8A1,OR8B12 nsv521879 11 123932140 123935961 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694650 S 2026 1 0 "" nsv898437 11 123955190 123985259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500446 S 6533 0 1 "" SP50652 dgv1321n71 11 124117369 124141583 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898439,nsv898438 M 6533 0 2 ESAM,NRGN,VSIG2 SP54956,SP54988 nsv531 11 124242020 124279531 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10845,nssv1049 M 9 2 0 ROBO3,ROBO4 NA18956,NA19240 nsv520150 11 124246982 124264258 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697250 S 2026 0 1 ROBO3,ROBO4 esv274869 11 124276729 124293866 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585271 S 1250 0 1 "" nsv520010 11 124333145 124440567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660074,nssv681477,nssv663232 M 2026 0 3 CCDC15,SLC37A2 esv2479047 11 124334916 124336334 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343116 S 1 0 1 CCDC15 NA18507 esv2256616 11 124335161 124335651 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868934 S 1 0 1 CCDC15 NA18507 nsv39015 11 124335349 124335456 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57593 M 24 CCDC15 esv996549 11 124335356 124335463 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566384 S 3 0 1 CCDC15 HuRef esv1770401 11 124335361 124335469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778917 S 2 0 1 CCDC15 HuRef nsv525136 11 124450756 124451444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701206 S 2026 0 1 SLC37A2 nsv527157 11 124450756 124470580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703549 S 2026 0 1 SLC37A2 esv24623 11 124485276 124487090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14633 S 451 0 1 "" NA12239 nsv832290 11 124487812 124646260 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449531,nssv1449530 M 95 1 1 PKNOX2 nsv826116 11 124538515 124544260 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433088 S 31 1 0 PKNOX2 NA18972 esv988520 11 124558295 124558584 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575049 S 3 0 1 PKNOX2 HuRef esv1454607 11 124558309 124558599 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280852 S 2 0 1 PKNOX2 HuRef nsv468885 11 124567002 124589952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543939 S 1557 0 1 PKNOX2 NINDS_272 dgv83n21 11 124575602 124593480 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517656,nsv521936 M 2026 0 30 PKNOX2 esv21773 11 124580187 124590551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10910,esv20730,esv20108 M 451 0 11 PKNOX2 NA07037,NA07045,NA12006,NA12489,NA12749,NA12776,NA18508,NA18517,NA18916,NA19129,NA19225 dgv444e1 11 124580498 124605648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24321,esv1423 M 271 0 0 PKNOX2 NA11882 nsv818869 11 124580785 124589952 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418097 S 112 0 1 PKNOX2 NA11882 nsv468887 11 124589952 124629183 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543940 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PKNOX2 HGDP00897 nsv523559 11 124677803 124677884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699339 S 2026 0 1 PKNOX2 nsv528236 11 124677884 124680691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704798 S 2026 0 1 PKNOX2 nsv525451 11 124766961 124772103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701579 S 2026 0 1 PKNOX2 esv23228 11 124791463 124794826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17743 S 451 0 1 PKNOX2 NA18861 nsv38673 11 124799847 124800146 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57251 M 24 PKNOX2 nsv532 11 124837906 124863727 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8974 S 9 0 1 FEZ1 NA12156 esv32964 11 124870175 125421492 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98712,essv100855,essv98625,essv99361 M 51 2 2 ACRV1,CDON,CHEK1,DDX25,EI24,FEZ1,HYLS1,PATE1,PATE2,PATE3,PATE4,PUS3,STT3A 21606,21656,22085,22335 nsv39485 11 125054335 125060052 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58063 M 24 ACRV1 nsv519206 11 125098119 125123118 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696695 S 2026 1 0 PATE1 nsv482163 11 125121398 125124952 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558524 S 1 0 1 PATE1 KB1 nsv534 11 125124733 125157867 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8975 S 9 1 0 PATE1,PATE2 NA12156 nsv468888 11 125153426 125271254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543941 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HYLS1,PATE2,PATE3,PATE4,PUS3 HGDP00243 dgv248n67 11 125218666 125294636 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826121,nsv826120,nsv826117,nsv826118 M 31 4 0 DDX25,HYLS1,PUS3 NA18542,NA18968,NA18969,NA18973 esv1924007 11 125224532 125224981 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736547 S 1 0 1 "" NA18507 nsv535 11 125293596 125338476 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8976 S 9 0 1 CDON,DDX25 NA12156 esv1011222 11 125314282 125319878 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565200 S 3 0 1 "" HuRef nsv516919 11 125317560 125330918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692603,nssv691217,nssv698963,nssv663571,nssv699931,nssv654986 M 2026 0 6 "" nsv819513 11 125356243 125359287 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419499 S 2 0 1 CDON AK1 esv2588075 11 125439975 125440638 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220090 S 1 1 0 "" NA18507 nsv513340 11 125440132 125440795 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625731 S 1 1 0 "" 1 nsv507623 11 125458848 125464848 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620423,nssv623072 M 4 2 0 "" NA15510,NA18994 esv2018676 11 125513054 125513434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843609 S 1 0 1 "" NA18507 nsv536 11 125538653 125582815 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3997 S 9 0 1 RPUSD4 NA12878 nsv525213 11 125546414 125565293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701296 S 2026 0 1 "" nsv523976 11 125559495 125562554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699831 S 2026 0 1 "" nsv528454 11 125560250 125561724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705053 S 2026 0 1 "" nsv519844 11 125571250 125573852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697081 S 2026 0 1 "" nsv515958 11 125572158 125573852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673471,nssv656537,nssv661317,nssv660770,nssv682587,nssv681620,nssv690909,nssv665472,nssv678862,nssv676727 M 2026 0 10 "" nsv537 11 125591600 125620856 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1050 S 9 1 0 FAM118B NA19240 esv2447763 11 125607054 125608600 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221099 S 1 0 1 FAM118B NA18507 nsv898440 11 125647974 125664244 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510869 S 6533 0 1 FOXRED1,TIRAP SP54988 nsv513341 11 125651271 125651424 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625732 S 1 1 0 FOXRED1 1 nsv898441 11 125655130 125659053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508128 S 6533 0 1 TIRAP SP54725 nsv826122 11 125665648 125667790 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436921 S 31 0 1 TIRAP NA18542 nsv898442 11 125723751 125802819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521474 S 6533 1 0 FLJ39051,KIRREL3,ST3GAL4 SP52381 nsv826123 11 125729600 125731462 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433089 S 31 1 0 FLJ39051,ST3GAL4 NA18972 esv24669 11 125740421 125756117 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18737 S 451 1 0 ST3GAL4 NA18523 nsv527257 11 125747907 125751286 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703661 S 2026 1 0 ST3GAL4 esv275069 11 125863118 125872620 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585699 S 1250 0 1 KIRREL3 esv9231 11 125962757 125962810 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31672 S 1 1 0 KIRREL3 SJK nsv898443 11 125973922 126026380 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559527 S 6533 1 0 KIRREL3 MS24011 nsv898444 11 125974814 125990042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580605 S 6533 1 0 KIRREL3 IS35388 esv2526292 11 126007657 126008174 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182523 S 1 1 0 KIRREL3 NA18507 nsv523864 11 126103574 126106342 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699701 S 2026 1 0 KIRREL3 nsv524109 11 126107663 126110244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699987 S 2026 0 1 KIRREL3 esv988792 11 126139161 126141475 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564628 S 3 0 1 KIRREL3 HuRef esv2617561 11 126174316 126174744 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231429 S 1 1 0 KIRREL3 NA18507 esv2592221 11 126174460 126174525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292149 S 1 0 1 KIRREL3 NA18507 nsv538 11 126184030 126212953 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1969 S 9 1 0 KIRREL3 NA18555 esv2046864 11 126238458 126238955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526989 S 1 0 1 KIRREL3 NA18507 esv27573 11 126256276 126261146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14663 S 451 0 2 KIRREL3 NA18523,NA18916 nsv539 11 126359959 126384633 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3998 S 9 1 0 KIRREL3,KIRREL3-AS3,MIR3167 NA12878 esv273237 11 126408355 126408720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580143,essv2580477,essv2579996 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv267851 11 126408370 126408710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565606,essv2540688,essv2521295,essv2526256,essv2542501,essv2556734,essv2568335,essv2577441,essv2570514,essv2525402,essv2535117,essv2552249,essv2520679,essv2558324,essv2553529,essv2561791,essv2528455,essv2540369,essv2524600,essv2519497,essv2521902,essv2578255,essv2573781,essv2534194,essv2531676,essv2572175,essv2560811,essv2536282,essv2537823,essv2548758,essv2563521,essv2558210 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA10847,NA10851,NA11829,NA11831,NA11894,NA11918,NA11919,NA11994,NA11995,NA12043,NA12044,NA12156,NA12249,NA12489,NA12716,NA12750,NA12763,NA12874,NA12891,NA18552,NA18555,NA18566,NA18571,NA18940,NA18951,NA18959,NA18961,NA18973,NA19137 esv1119021 11 126420535 126420535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654560 S 2 1 0 "" HuRef esv270339 11 126446307 126446638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565858,essv2521120,essv2536432,essv2522882,essv2544106,essv2556572,essv2531979,essv2576822,essv2554070,essv2520695,essv2547173,essv2558472,essv2564440,essv2577908,essv2553796,essv2565216,essv2576461,essv2520244,essv2563945,essv2555112,essv2537273,essv2528355,essv2546963,essv2520867,essv2552558,essv2532035,essv2569239,essv2558857,essv2527328,essv2544578,essv2562867,essv2523773,essv2541410,essv2538406,essv2543016,essv2534784,essv2561206,essv2539520,essv2560157,essv2567951,essv2528720,essv2570029,essv2572277,essv2559201,essv2542196,essv2528099,essv2562459,essv2573132,essv2555635,essv2567057,essv2566584,essv2522625,essv2525762,essv2526825,essv2526670,essv2524082,essv2574824,essv2560379,essv2545804,essv2574425,essv2537759,essv2548932,essv2533005,essv2554756,essv2547995,essv2525112,essv2557929 M 157 67 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11894,NA11920,NA11931,NA11992,NA11994,NA12006,NA12154,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12878,NA12891,NA12892,NA18498,NA18502,NA18505,NA18508,NA18516,NA18522,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18561,NA18562,NA18563,NA18570,NA18577,NA18579,NA18593,NA18609,NA18638,NA18856,NA18907,NA18909,NA18942,NA18945,NA18947,NA18948,NA18960,NA18980,NA19005,NA19114,NA19129,NA19138,NA19190,NA19239,NA19240 esv273416 11 126446310 126446639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582048,essv2582729,essv2582847,essv2584779,essv2583835 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv2581757 11 126454132 126455583 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249129 S 1 0 1 "" NA18507 esv27000 11 126466960 126472140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19345 S 451 0 1 "" NA18858 nsv528676 11 126470993 126471177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705316 S 2026 0 1 "" esv1210278 11 126507264 126507264 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598238 S 2 1 0 "" HuRef nsv527631 11 126542835 126560326 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704099 S 2026 1 0 "" nsv523151 11 126556731 126564157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698859 S 2026 0 1 "" nsv528334 11 126661942 126703754 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704916 S 2026 1 0 "" nsv519489 11 126675983 126693718 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696879 S 2026 1 0 "" esv28779 11 126699134 126709195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10235 S 451 0 1 "" NA12239 nsv818870 11 126700597 126709174 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418393 S 112 0 1 "" NA12239 dgv445e1 11 126701966 126709174 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22729,esv1209 M 271 0 0 "" NA12239 esv22485 11 126780237 126785166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13198 S 451 0 1 "" NA19190 esv2118013 11 126805401 126805834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607020 S 1 0 1 "" NA18507 nsv898445 11 126882943 127218383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520630 S 6533 0 1 "" SP51182 esv2064242 11 126961354 126961836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962977 S 1 0 1 "" NA18507 dgv24n6 11 126961509 126961644 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv38637,nsv38826 M 24 "" esv1007252 11 126961510 126961643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579783 S 3 0 1 "" HuRef esv1545769 11 126961510 126961644 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861196 S 2 0 1 "" HuRef esv1570990 11 126967426 126967426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956101 S 2 1 0 "" HuRef nsv826124 11 127050403 127085625 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441375 S 31 0 1 "" NA18969 nsv818871 11 127094060 127100594 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415688,nssv1415689 M 112 0 2 "" NA10835,NA12248 esv274661 11 127172422 127172766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580185,essv2580496,essv2579945 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271255 11 127172427 127172766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520813,essv2557525,essv2557144,essv2551921,essv2562651,essv2569411,essv2578607,essv2550083,essv2561461,essv2566752,essv2556245,essv2527773,essv2529553,essv2538573,essv2526557,essv2524208,essv2574646,essv2530270,essv2568723,essv2545105,essv2560267,essv2549939,essv2545740,essv2574525,essv2551210 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18501,NA18504,NA18507,NA18508,NA18510,NA18511,NA18523,NA18853,NA18871,NA18907,NA19093,NA19108,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 nsv526723 11 127176525 127301560 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703063 S 2026 1 0 "" esv1332963 11 127246162 127246162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619908 S 2 1 0 "" HuRef nsv819989 11 127253106 127258818 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419729 S 2 1 0 "" AK1 esv1000625 11 127254516 127256494 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587040 S 3 1 0 "" HuRef nsv826125 11 127254516 127256494 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424460,nssv1421472,nssv1422842,nssv1438357,nssv1435332 M 31 5 0 "" NA18547,NA18552,NA18582,NA18942,NA18951 nsv821527 11 127254516 127257280 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420962 S 1 0 1 "" NA10851 esv24229 11 127254784 127257222 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18219,esv10542 M 451 28 0 "" NA11894,NA11993,NA11995,NA12006,NA12156,NA12239,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv249n67 11 127255754 127256494 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826126,nsv826127 M 31 17 0 "" AK10,AK14,AK16,AK18,AK2,AK4,AK8,NA18526,NA18542,NA18564,NA18566,NA18570,NA18947,NA18949,NA18972,NA18997,NA18999 esv275299 11 127294114 127297500 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585825 S 1250 0 1 "" nsv898446 11 127332937 127491412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577910 S 6533 0 1 "" IS34599 esv269760 11 127337313 127338517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512851 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18609 nsv898447 11 127453448 127522083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565964 S 6533 0 1 "" IS30539 nsv515707 11 127472564 127491412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679638,nssv661625,nssv681637,nssv668167,nssv658184,nssv693275,nssv660617,nssv681074,nssv690847,nssv651886,nssv683736,nssv665407,nssv666775,nssv653355,nssv659958,nssv662806 M 2026 0 16 "" esv272446 11 127503019 127503345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582184,essv2582855,essv2583919 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv269056 11 127503020 127503344 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540680,essv2526103,essv2542336,essv2543910,essv2523188,essv2577525,essv2570558,essv2521794,essv2554332,essv2529322,essv2558489,essv2578097,essv2564068,essv2561794,essv2537635,essv2546821,essv2562626,essv2578524,essv2550940,essv2568856,essv2543545,essv2539511,essv2534022,essv2578187,essv2527411,essv2531478,essv2573320,essv2529798,essv2526502,essv2560682,essv2524293,essv2572900,essv2545095,essv2560354,essv2571154,essv2554479,essv2525063 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA11831,NA11918,NA11919,NA11992,NA12004,NA12043,NA12044,NA12144,NA12287,NA12749,NA12750,NA12761,NA12828,NA12874,NA12878,NA12892,NA18507,NA18510,NA18858,NA18861,NA18870,NA18912,NA18916,NA18940,NA18952,NA18961,NA18969,NA19093,NA19114,NA19116,NA19129,NA19143,NA19172,NA19190,NA19238 esv5718 11 127548166 127548528 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28159 S 1 0 1 "" SJK nsv39794 11 127548167 127548493 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58372 M 24 "" nsv520622 11 127587605 127594145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673288,nssv691435 M 2026 0 2 "" esv27515 11 127590945 127591895 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10445 S 451 0 3 "" NA18916,NA19147,NA19240 nsv540 11 127656405 127673384 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3999 S 9 1 0 "" NA12878 esv2292115 11 127666436 127666820 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865011 S 1 0 1 "" NA18507 nsv520669 11 127687731 127692593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697548 S 2026 0 1 "" nsv510280 11 127700810 127706810 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622144 S 4 0 1 "" NA10860 nsv541 11 127758267 127803291 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8977 S 9 0 1 "" NA12156 nsv542 11 127810163 127822396 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5385 S 9 0 1 "" NA19129 nsv498773 11 127816703 127821303 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585586 S 9 0 1 "" esv24144 11 127816875 127820647 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14205 S 451 0 9 "" NA18502,NA18511,NA18517,NA18523,NA18858,NA19108,NA19114,NA19129,NA19240 nsv514596 11 127817072 127817384 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628126 S 1414 0 0 "" nsv442246 11 127838729 127840260 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ETS1 esv274885 11 127846952 127847537 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585189,essv2585203 M 1250 1 1 ETS1 nsv898448 11 127848372 127946707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557816 S 6533 0 1 ETS1 MS22898 esv25513 11 127848959 127851153 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14286 S 451 0 1 ETS1 NA12004 esv275584 11 127859473 127859594 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585237 S 1250 0 1 ETS1 esv269752 11 127873001 127873225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500453,essv2503301,essv2497268,essv2494547,essv2511296,essv2507607,essv2512708,essv2508148,essv2508646,essv2501553,essv2511562 M 157 11 0 Samples from several populations that are part of the HapMap project. ETS1 NA07346,NA18537,NA18542,NA18545,NA18550,NA18570,NA18576,NA18577,NA18579,NA18592,NA18608 nsv517012 11 127888014 127893983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671637,nssv669881,nssv660118,nssv656583,nssv651769,nssv678164,nssv661269,nssv690652,nssv684983,nssv662901,nssv671075,nssv684115,nssv693847,nssv675691,nssv678090,nssv678450,nssv690791,nssv689659,nssv675104,nssv683855,nssv667309,nssv692111,nssv684854,nssv687954,nssv657782,nssv685477,nssv667615,nssv683580,nssv685176,nssv656026,nssv667419,nssv668329,nssv664520,nssv692399,nssv679488,nssv690848,nssv672854,nssv682794,nssv684666,nssv658783,nssv661119,nssv682221,nssv669354,nssv658221,nssv682165,nssv675719,nssv673582,nssv691866,nssv673077,nssv675984,nssv656001,nssv678905,nssv672756,nssv667105,nssv664723,nssv657092,nssv674404,nssv677370,nssv675593,nssv682253,nssv683160,nssv661062,nssv675757,nssv653614,nssv663771,nssv693370,nssv669576,nssv693005,nssv683462,nssv688136,nssv679395,nssv680315,nssv676251,nssv693773,nssv686829,nssv670135,nssv693868,nssv680009,nssv679463,nssv667137,nssv693426,nssv656273,nssv677689,nssv681638,nssv654092,nssv695174,nssv674192,nssv668938,nssv674652,nssv684795,nssv693276,nssv680284,nssv677443,nssv674329,nssv652424,nssv682951,nssv668531,nssv688697,nssv682588,nssv671441,nssv693737,nssv659292,nssv685900,nssv680139,nssv675896,nssv656629,nssv657338,nssv685193,nssv666313,nssv656469,nssv665834,nssv677016,nssv656199,nssv669527,nssv653717,nssv690508,nssv692420,nssv683879,nssv656963,nssv691140,nssv672345,nssv654340,nssv684090,nssv668302,nssv671256,nssv670603,nssv691568,nssv665200,nssv685891,nssv689196,nssv665164,nssv684965,nssv684390,nssv686064,nssv688611,nssv691363,nssv672260,nssv678501,nssv661318,nssv670158,nssv660822,nssv675625,nssv661756,nssv692201,nssv692703,nssv651726,nssv669957,nssv653767,nssv693130,nssv687147,nssv664447,nssv670851,nssv657249,nssv653277,nssv659325,nssv662807,nssv661923,nssv671564,nssv665327,nssv676728,nssv664644,nssv659915,nssv664304,nssv684611,nssv667890,nssv652856,nssv656796,nssv681682,nssv676315,nssv660771,nssv659976,nssv677606,nssv672298,nssv653944,nssv663813,nssv689374,nssv692831,nssv669592,nssv670061,nssv655056,nssv673157,nssv691997,nssv677389,nssv661825,nssv673432,nssv690438,nssv664590,nssv685835,nssv659891,nssv666118,nssv672011,nssv680791,nssv666609,nssv664157,nssv653133,nssv677763,nssv687926,nssv658410,nssv664101,nssv659681,nssv681153,nssv653424,nssv684181,nssv668971,nssv678587,nssv681573,nssv668095,nssv656322,nssv685329,nssv664275,nssv681549,nssv689891,nssv670340,nssv664817 M 2026 0 214 ETS1 esv275204 11 127895457 127898043 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586042,essv2586040 M 1250 1 1 ETS1 esv1757388 11 127923241 127923241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174561 S 2 1 0 ETS1 HuRef esv8500 11 127951870 127952893 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30941 S 1 0 0 ETS1 SJK esv1237588 11 127960181 127960282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157925 S 2 0 1 ETS1 HuRef nsv521429 11 127976450 127980211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698039 S 2026 0 1 "" esv274411 11 128037610 128038001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580322 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv271911 11 128037750 128037911 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493256,essv2502969,essv2505715,essv2507411,essv2498742,essv2512104 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18507,NA18861,NA18912,NA19138,NA19238 nsv826128 11 128064417 128070667 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433091 S 31 1 0 FLI1,LOC100507392 NA18972 nsv543 11 128095271 128129099 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4000 S 9 1 0 FLI1 NA12878 nsv468891 11 128164697 128175030 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543942 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLI1 HGDP01077 esv275021 11 128171111 128175030 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586062,essv2585301 M 1250 1 1 FLI1 nsv526725 11 128173012 128173302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703065 S 2026 0 1 FLI1 nsv545 11 128182285 128201577 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8978 S 9 0 1 FLI1 NA12156 nsv819457 11 128187560 128188668 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419174 S 2 1 0 FLI1 AK1 dgv250n67 11 128187879 128188594 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826129,nsv826131 M 31 0 27 FLI1 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820393 11 128187879 128188594 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420963 S 1 0 1 FLI1 NA10851 esv994512 11 128187926 128188619 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567238 S 3 0 1 FLI1 HuRef nsv38628 11 128187928 128188620 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57206 M 24 FLI1 esv28700 11 128187933 128188593 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19360 S 451 33 0 FLI1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1649942 11 128243197 128243197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099511 S 2 1 0 "" HuRef nsv468892 11 128278623 128309999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543943 S 1557 0 1 C11orf45,KCNJ5,TP53AIP1 NINDS_200 esv1633354 11 128305636 128305745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635073 S 2 0 1 "" HuRef esv1310343 11 128305980 128305980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796572 S 2 1 0 "" HuRef esv1646901 11 128306012 128306012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192046 S 2 1 0 "" HuRef dgv84n21 11 128309999 128324002 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528381,nsv522732 M 2026 0 2 TP53AIP1 esv2097474 11 128315177 128315606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950629 S 1 0 1 TP53AIP1 NA18507 nsv525837 11 128344366 128348083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702029 S 2026 0 1 ARHGAP32 esv274060 11 128438582 128439586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581376 S 7 1 0 Samples from several populations that are part of the HapMap project. ARHGAP32 NA12878 nsv832291 11 128467181 128620000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449533,nssv1449532 M 95 0 2 ARHGAP32 esv271608 11 128502657 128502973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542544,essv2544079,essv2545601,essv2570457,essv2558560,essv2520035,essv2563965,essv2537639,essv2546722,essv2540075,essv2557450,essv2556978,essv2532124,essv2569368,essv2578806,essv2538969,essv2544906,essv2542879,essv2564928,essv2560109,essv2565938,essv2532602,essv2567341,essv2542035,essv2556437,essv2528088,essv2534122,essv2578496,essv2567088,essv2566542,essv2573918,essv2557672,essv2534281,essv2522581,essv2577026,essv2526996,essv2529793,essv2575596,essv2538751,essv2524069,essv2572857,essv2568450,essv2548153,essv2549712,essv2571314,essv2574183,essv2551542,essv2533156,essv2524858 M 157 49 0 Samples from several populations that are part of the HapMap project. ARHGAP32 NA07051,NA07357,NA11919,NA11992,NA12003,NA12044,NA12750,NA12815,NA12828,NA12878,NA12892,NA18489,NA18499,NA18501,NA18505,NA18508,NA18510,NA18519,NA18526,NA18550,NA18558,NA18570,NA18572,NA18576,NA18582,NA18856,NA18871,NA18907,NA18916,NA18940,NA18947,NA18948,NA18951,NA18953,NA18959,NA18960,NA18970,NA19005,NA19093,NA19099,NA19108,NA19129,NA19143,NA19147,NA19210,NA19225,NA19238,NA19240,NA19257 esv274658 11 128502657 128502973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582231,essv2583055,essv2584140,essv2583431 M 7 4 0 Samples from several populations that are part of the HapMap project. ARHGAP32 NA12878,NA12892,NA19238,NA19240 esv2243084 11 128506722 128507168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563960 S 1 0 1 ARHGAP32 NA18507 esv2442229 11 128506912 128506980 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385478 S 1 0 1 ARHGAP32 NA18507 esv269124 11 128517122 128517452 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521342,essv2525235,essv2554826,essv2563351 M 157 4 0 Samples from several populations that are part of the HapMap project. ARHGAP32 NA10847,NA11894,NA12156,NA12872 esv2601979 11 128518471 128521606 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203321 S 1 0 1 ARHGAP32 NA18507 esv2287161 11 128518587 128520650 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687897 S 1 0 1 ARHGAP32 NA18507 nsv826132 11 128521202 128521725 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422845 S 31 1 0 ARHGAP32 NA18552 esv2099018 11 128642317 128642710 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801806 S 1 0 1 "" NA18507 esv2399011 11 128642466 128642870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775407 S 1 0 1 "" NA18507 esv29085 11 128653980 128655060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18829 S 451 0 1 "" NA07045 esv7005 11 128678747 128678823 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29446 S 1 1 0 "" SJK nsv546 11 128796979 128820722 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9826 S 9 1 0 BARX2 NA18507 nsv832293 11 128851141 129033043 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449534 S 95 0 1 "" nsv898449 11 128855477 129005055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595555 S 6533 0 1 "" IS40254 nsv507624 11 128873910 128879910 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619060,nssv617824 M 4 2 0 "" CHM,NA10860 esv8877 11 128881299 128881382 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31318 S 1 1 0 "" SJK nsv547 11 128886904 128931690 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8979 S 9 0 1 "" NA12156 esv1632414 11 128938949 128939273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037930 S 2 0 1 "" HuRef esv2620072 11 128955037 128955814 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312811 S 1 1 0 "" NA18507 nsv38903 11 128955569 128955569 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57481 M 24 "" esv8927 11 128955603 128955686 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31368 S 1 1 0 "" SJK esv1581591 11 128955620 128955620 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033978 S 2 1 0 "" HuRef esv1217139 11 128960669 128960669 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748016 S 2 1 0 "" HuRef nsv832294 11 128963310 129120160 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449535 S 95 1 0 "" esv269686 11 128964845 128970436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497118,essv2504957 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18942 nsv898450 11 129030914 129070462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524425 S 6533 1 0 "" SP55022 nsv898451 11 129045900 129070462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517393 S 6533 1 0 "" SP57269 esv1428329 11 129047248 129047248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662005 S 2 1 0 "" HuRef nsv516228 11 129056603 129065794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666964,nssv678451,nssv677607 M 2026 0 3 "" nsv898452 11 129070992 129168247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524426 S 6533 1 0 "" SP55022 nsv898453 11 129114448 129168247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517394 S 6533 1 0 "" SP57269 nsv548 11 129121212 129154600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8980 S 9 1 0 "" NA12156 nsv39607 11 129221585 129226648 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58185 M 24 TMEM45B esv269495 11 129264728 129264813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514769,essv2518562,essv2515651,essv2514392 M 157 4 0 Samples from several populations that are part of the HapMap project. NFRKB NA12234,NA12287,NA12815,NA12874 nsv898454 11 129271568 129308391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520795 S 6533 1 0 PRDM10 SP51256 nsv468893 11 129283582 129310023 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543944 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM10 HGDP01021 nsv39533 11 129341195 129344745 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58111 M 24 PRDM10 dgv1322n71 11 129372558 129422149 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898455,nsv898456 M 6533 0 2 LINC00167,PRDM10 SP54956,SP55021 dgv251n67 11 129380296 129499846 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826133,nsv826134 M 31 2 0 APLP2,LINC00167 NA18969,NA18973 dgv1323n71 11 129392992 129428467 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898457,nsv898458 M 6533 0 2 "" SP54043,SP57469 esv27072 11 129444726 129446419 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18797 S 451 0 1 APLP2 NA07045 esv1620466 11 129466156 129466481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326592 S 2 0 1 APLP2 HuRef nsv832295 11 129474317 129635298 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449536 S 95 1 0 APLP2,ST14,ZBTB44 essv12346 11 129474432 129635215 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. APLP2,ST14,ZBTB44 NA19138 dgv446e1 11 129474432 129847927 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv644,essv438 M 271 0 0 ADAMTS15,ADAMTS8,APLP2,ST14,ZBTB44 NA18952 nsv549 11 129480011 129512609 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10846 S 9 1 0 APLP2 NA18956 nsv517199 11 129530155 129581544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669701,nssv696967,nssv671514,nssv672237,nssv653992,nssv688570,nssv665624,nssv685085,nssv684796,nssv700230,nssv670950,nssv667420,nssv677807,nssv692888 M 2026 0 14 ST14 dgv1324n71 11 129543697 129599409 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898461,nsv898460,nsv898459 M 6533 0 3 ST14 MS10311,MS16153,MS17208 dgv3e24 11 129565193 129577412 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750561,esv2750625 M 51 2 0 ST14 21634,22352 nsv468896 11 129592155 129665085 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543946 S 1557 0 1 ZBTB44 1780862229_A esv33203 11 129602921 129624529 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100820 S 51 0 1 ZBTB44 21656 nsv39016 11 129620673 129620722 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57594 M 24 ZBTB44 nsv818872 11 129620956 129715798 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417425 S 112 0 1 ZBTB44 NA18952 essv506 11 129633534 129715211 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ZBTB44 NA18952 esv34550 11 129638425 129715211 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988311,essv6980097 M 771 0 1 ZBTB44 NA18952 nsv436134 11 129730415 129736324 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466675 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22764 11 129730927 129735693 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11861 S 451 0 4 "" NA18505,NA18511,NA18861,NA19114 nsv508660 11 129772733 129878695 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622611 S 4 0 1 ADAMTS15,ADAMTS8 NA18994 nsv550 11 129801193 129835353 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8981 S 9 1 0 ADAMTS15,ADAMTS8 NA12156 esv2274828 11 129806413 129806844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531361 S 1 0 1 "" NA18507 nsv8877 11 129821444 129829952 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21188 S 31 1 0 Samples from several populations that are part of the HapMap project. ADAMTS15 NA12155 nsv8878 11 129852398 129854960 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18652,nssv20549 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18942,NA19173 esv2229681 11 129907535 129907883 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951360 S 1 0 1 "" NA18507 nsv528299 11 129936692 129945533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704875 S 2026 0 1 "" nsv508661 11 129952081 130024282 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620013,nssv622614 M 4 0 2 "" NA15510,NA18994 nsv526747 11 129986747 130117948 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703092 S 2026 1 0 "" esv6004 11 130001599 130001856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28445 S 1 0 1 "" SJK esv28235 11 130105204 130106721 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19063 S 451 0 2 "" NA18858,NA19147 esv2538268 11 130128916 130135378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339756 S 1 0 1 "" NA18507 nsv507625 11 130165321 130171321 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620431,nssv619061,nssv623080 M 4 3 0 "" NA10860,NA15510,NA18994 esv271884 11 130181098 130181436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516702,essv2517407,essv2517007,essv2518780,essv2514732,essv2515422,essv2516009,essv2514395,essv2517756,essv2517191,essv2519086,essv2513887,essv2519462 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11918,NA11931,NA12045,NA12234,NA12249,NA12873,NA12874,NA12878,NA18970,NA19141,NA19143 esv273323 11 130181098 130181436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581591 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1005344 11 130181119 130181119 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567174 S 3 1 0 "" HuRef nsv898462 11 130195527 130408387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586212 S 6533 1 0 SNX19 IS37689 nsv551 11 130203720 130248674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8982 S 9 0 1 "" NA12156 esv273791 11 130263807 130265480 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579111,essv2579614 M 7 2 0 Samples from several populations that are part of the HapMap project. SNX19 NA19239,NA19240 nsv552 11 130275319 130286880 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1970 S 9 0 1 SNX19 NA18555 nsv898463 11 130366454 130427511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590812 S 6533 1 0 "" IS38591 esv269154 11 130388086 130388405 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539966,essv2578586,essv2568941,essv2543583,essv2530288,essv2545128,essv2560227,essv2551600 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18861,NA18870,NA19141,NA19172,NA19190,NA19257 nsv898464 11 130418618 130562585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586213 S 6533 1 0 "" IS37689 esv27567 11 130425269 130427267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12533 S 451 0 1 "" NA19099 nsv468897 11 130430227 130475753 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543947 S 1557 0 1 "" 1780862433_A nsv39257 11 130469229 130469303 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57835 M 24 "" dgv447e1 11 130484613 130489555 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1010,essv4353 M 271 0 0 "" NA18622 nsv469991 11 130526703 130613052 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546221 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00471 nsv509447 11 130552572 130552572 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618088 S 4 1 0 "" CHM nsv507626 11 130554589 130560589 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620438 S 4 1 0 "" NA15510 nsv898465 11 130573351 130841284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586214 S 6533 1 0 NTM IS37689 esv1664498 11 130641872 130641944 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912836 S 2 0 1 "" HuRef esv988350 11 130683391 130683391 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571302 S 3 1 0 "" HuRef esv1398009 11 130683392 130683392 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033245 S 2 1 0 "" HuRef esv24187 11 130707102 130710442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20722 S 451 0 1 "" NA19240 esv1006260 11 130767326 130767326 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579495 S 3 1 0 NTM HuRef esv269102 11 130829715 130830146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510138,essv2503422,essv2495745,essv2495063,essv2513084 M 157 5 0 Samples from several populations that are part of the HapMap project. NTM NA07000,NA07051,NA10847,NA11829,NA12716 esv9451 11 130837899 130838005 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31892 S 1 1 0 NTM SJK esv268386 11 130866493 130866793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511825,essv2496462,essv2506039,essv2506514,essv2498802,essv2499793,essv2512188,essv2498105 M 157 8 0 Samples from several populations that are part of the HapMap project. NTM NA18499,NA18510,NA18523,NA19108,NA19138,NA19225,NA19238,NA19240 esv272292 11 130866502 130866860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580570 S 7 1 0 Samples from several populations that are part of the HapMap project. NTM NA19238 esv275372 11 130909409 130913377 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585783,essv2585538 M 1250 1 1 NTM dgv448e1 11 130938011 131254195 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21811,essv9168,essv12271,essv19402,essv15741,essv8158,essv16887,essv14629,essv4274,esv211,essv12379,essv17306,essv23558,essv11543,essv9660,essv16492,essv10363 M 271 0 0 NTM NA06993,NA11839,NA11840,NA18603,NA18856,NA18913,NA19093,NA19101,NA19128,NA19131,NA19173,NA19205,NA19206,NA19210,NA19222,NA19238 nsv428266 11 130938011 131254195 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452211,nssv452210,nssv452214,nssv452212,nssv452213 M 62 5 0 NTM HGDP00467,HGDP00474,NA18498,NA19113,NA19189 nsv519866 11 130970406 130987364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697092 S 2026 0 1 NTM nsv826135 11 131005142 131005733 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439169 S 31 0 1 NTM NA18973 dgv1325n71 11 131011625 131105933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898467,nsv898466 M 6533 0 2 NTM MS20753,MS21868 nsv526844 11 131020866 131024145 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703202 S 2026 1 0 NTM nsv553 11 131040880 131075057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1051,nssv5387 M 9 2 0 NTM NA19129,NA19240 esv2517835 11 131054725 131055582 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308601 S 1 1 0 NTM NA18507 esv1144589 11 131055548 131055548 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267817 S 2 1 0 NTM HuRef esv1243815 11 131055742 131055742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672843 S 2 1 0 NTM HuRef nsv499166 11 131055894 131056990 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585604 S 9 1 0 NTM esv1673449 11 131055910 131055910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662380 S 2 1 0 NTM HuRef esv1453063 11 131056032 131056196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956944 S 2 0 1 NTM HuRef esv27663 11 131056033 131056963 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10772 S 451 9 0 NTM NA12776,NA18505,NA18517,NA18916,NA19099,NA19108,NA19129,NA19190,NA19240 nsv821528 11 131056033 131056963 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420964 S 1 0 1 NTM NA10851 nsv898468 11 131097719 131173745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540989 S 6533 1 0 NTM MS15118 esv21641 11 131101445 131102377 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11285 S 451 0 1 NTM NA19099 nsv510281 11 131107381 131113381 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618357 S 4 0 1 NTM CHM nsv468898 11 131118832 131154656 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543948 S 1557 1 0 NTM 1780854295_A nsv517550 11 131150645 131173745 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669546,nssv652336,nssv692866,nssv672584,nssv704881,nssv656912,nssv676407,nssv670774,nssv705567 M 2026 7 2 NTM esv2632966 11 131164292 131165725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225590 S 1 0 1 NTM NA18507 esv2141370 11 131164370 131164809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517824 S 1 0 1 NTM NA18507 esv1515834 11 131248690 131248740 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729238 S 2 0 1 NTM HuRef esv1008024 11 131303668 131303765 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566859 S 3 0 1 NTM HuRef nsv522510 11 131386237 131388017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705878 S 2026 0 1 NTM nsv554 11 131426210 131434196 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1971 S 9 1 0 NTM NA18555 dgv252n67 11 131429347 131435465 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826137,nsv826136 M 31 6 0 NTM AK10,AK16,NA18537,NA18564,NA18951,NA18999 esv24689 11 131429444 131435546 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18153 S 451 7 0 NTM NA06985,NA11931,NA11993,NA11995,NA12006,NA12776,NA12828 nsv513747 11 131429473 131435256 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626999 S 1 1 0 NTM 1 nsv898469 11 131431408 131508480 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515363 S 6533 1 0 NTM SP56172 nsv898470 11 131431408 131757358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506865 S 6533 0 1 NTM SP54409 esv25603 11 131444102 131446546 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16371 S 451 0 13 NTM NA07037,NA11931,NA11993,NA11995,NA12006,NA12156,NA12287,NA12828,NA12878,NA15510,NA18502,NA18916,NA19114 esv1186595 11 131444447 131444811 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915524 S 2 0 1 NTM HuRef nsv512244 11 131444626 131446577 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624816 S 1 0 1 NTM 1 esv1589319 11 131446054 131446054 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064338 S 2 1 0 NTM HuRef nsv428267 11 131506987 131598665 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452217,nssv452216,nssv452215,nssv452218 M 62 0 4 NTM HGDP00462,NA19113,NA19181,NA19189 nsv832296 11 131506987 131598665 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449537 S 95 1 0 NTM esv26341 11 131539718 131542181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19679 S 451 0 1 NTM NA12489 nsv556 11 131556706 131601157 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8983 S 9 0 1 NTM NA12156 nsv39518 11 131581952 131581952 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58096 M 24 NTM esv2652259 11 131588184 131589719 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294121 S 1 0 1 NTM NA18507 esv1929334 11 131588633 131589334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4961094 S 1 0 1 NTM NA18507 esv8607 11 131588823 131589138 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31048 S 1 0 1 NTM SJK esv993815 11 131588829 131589142 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574757 S 3 0 1 NTM HuRef esv25234 11 131722098 131722592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19738 S 451 0 1 "" NA07037 esv2153700 11 131873654 131874093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554847 S 1 0 1 OPCML NA18507 nsv518815 11 131904482 131909665 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696268 S 2026 1 0 OPCML esv2483165 11 132063161 132064633 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206922 S 1 0 1 OPCML NA18507 esv2337795 11 132063607 132064280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595618 S 1 0 1 OPCML NA18507 esv3020 11 132063701 132064201 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25461 S 1 0 1 Single Asian sample YH OPCML YH nsv511010 11 132066869 132079448 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624326 S 4 0 0 OPCML NA18994 esv2323872 11 132091313 132091714 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509502 S 1 0 1 OPCML NA18507 nsv826138 11 132226285 132227120 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438360 S 31 0 1 OPCML NA18951 nsv557 11 132304532 132330165 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8985 S 9 0 1 OPCML NA12156 dgv54e55 11 132316000 132797586 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750983,esv2750982 M 771 2 0 OPCML BEC_631,BEC_795 nsv521504 11 132325094 132329581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698121 S 2026 0 1 OPCML nsv522776 11 132325094 132334045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698417 S 2026 0 1 OPCML esv990417 11 132390472 132390531 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585931 S 3 0 1 OPCML HuRef esv1007109 11 132396778 132396778 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574996 S 3 1 0 OPCML HuRef nsv39130 11 132396780 132396780 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57708 M 24 OPCML esv1528909 11 132396822 132396822 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152089 S 2 1 0 OPCML HuRef esv2582756 11 132402681 132402933 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391655 S 1 1 0 OPCML NA18507 nsv898471 11 132419258 132712150 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530280 S 6533 1 0 OPCML MS10291 nsv517552 11 132429624 132440598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668446,nssv684091,nssv669446,nssv696419,nssv672824,nssv694921,nssv674078,nssv681850,nssv691968,nssv670707,nssv658572,nssv659571,nssv652337 M 2026 0 13 OPCML esv1321885 11 132430318 132430318 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632439 S 2 1 0 OPCML HuRef nsv513343 11 132457160 132458207 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625735 S 1 1 0 OPCML 1 nsv510282 11 132481943 132487943 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621350,nssv622148,nssv624088 M 4 0 3 OPCML NA10860,NA15510,NA18994 dgv85n21 11 132493789 132510059 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523117,nsv516629 M 2026 0 11 OPCML esv4290 11 132515935 132516343 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26731 S 1 0 1 Single Asian sample YH OPCML YH nsv508662 11 132530838 132619772 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618826 S 4 0 1 OPCML NA10860 esv1010253 11 132571100 132576570 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564313 S 3 0 1 OPCML HuRef nsv826139 11 132606619 132607159 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437677 S 31 0 1 OPCML NA18949 esv2195896 11 132606838 132607284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926507 S 1 0 1 OPCML NA18507 esv2471562 11 132729195 132729509 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209909 S 1 1 0 OPCML NA18507 nsv513344 11 132729315 132730143 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625736 S 1 1 0 OPCML 1 nsv525431 11 132803817 132811355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701558 S 2026 0 1 OPCML esv1173177 11 132820257 132820257 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699997 S 2 1 0 OPCML HuRef esv2421631 11 132824676 132827932 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138636,essv5026399,essv5138832,essv5047244,essv5101270,essv5121529,essv5136257,essv5149480,essv5030282,essv5070842,essv5104331,essv5067901,essv5138538,essv5108267,essv5110337,essv5063709,essv5101866,essv5057836,essv5009754,essv5003417,essv5061772,essv5006913,essv5136655,essv5087324,essv5138580,essv5037934,essv5039479,essv5121700,essv5127452,essv5022974,essv5126210,essv5113417,essv5018936,essv5088394,essv5007900,essv5024985,essv5112140,essv5044770,essv5134720,essv5050385,essv5087044,essv5068743,essv5135953,essv5112789,essv5126984,essv5092542,essv5108518,essv5140921,essv5041307,essv5028187,essv5047195,essv5055904,essv5098596,essv5043658,essv5020957,essv5134019,essv5101645,essv5061052,essv5039074,essv5003384,essv5028823,essv5009955 M 1184 0 62 OPCML NA18917,NA18924,NA18925,NA18930,NA19035,NA19138,NA19150,NA19151,NA19179,NA19180,NA19185,NA19186,NA19197,NA19199,NA19226,NA19390,NA19398,NA19446,NA20127,NA20128,NA20290,NA20291,NA20292,NA20345,NA20363,NA21297,NA21314,NA21333,NA21355,NA21362,NA21364,NA21370,NA21382,NA21383,NA21384,NA21386,NA21387,NA21403,NA21404,NA21414,NA21420,NA21438,NA21441,NA21488,NA21490,NA21491,NA21519,NA21522,NA21528,NA21573,NA21577,NA21578,NA21582,NA21608,NA21614,NA21650,NA21682,NA21716,NA21723,NA21733,NA21739,NA21741 nsv517407 11 132825285 132826177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654719,nssv685864,nssv657152,nssv684239,nssv654436,nssv653849,nssv678924,nssv661870,nssv684562,nssv677356,nssv667912,nssv658008,nssv664940,nssv656562,nssv685836,nssv665986,nssv693894,nssv668841,nssv667558,nssv662808,nssv665532,nssv653206,nssv658635,nssv673599,nssv660772,nssv663333,nssv691099,nssv652616,nssv670038,nssv652593,nssv653993,nssv693091,nssv657981,nssv664972,nssv654798,nssv663879,nssv663354,nssv666548,nssv658708,nssv653919,nssv664724 M 2026 0 41 OPCML nsv818873 11 132825285 132826177 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416965 S 112 0 1 OPCML NA19138 esv1134786 11 132833359 132833421 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277776 S 2 0 1 OPCML HuRef nsv38926 11 133025127 133025127 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57504 M 24 "" nsv38609 11 133025180 133025180 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57187 M 24 "" nsv558 11 133046518 133060513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8986 S 9 1 0 "" NA12156 nsv559 11 133071741 133105851 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2873 S 9 1 0 "" NA18555 nsv528474 11 133133795 133148854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705077 S 2026 0 1 "" nsv826140 11 133206686 133209596 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433093 S 31 1 0 "" NA18972 nsv468900 11 133263747 133288442 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543949 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283174,MIR4697 HGDP00976 nsv898472 11 133274909 133345622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530745 S 6533 0 1 IGSF9B,LOC283174 MS10311 nsv826144 11 133295406 133395455 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441378 S 31 1 0 IGSF9B NA18969 nsv826145 11 133308283 133339892 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435334 S 31 0 1 IGSF9B NA18942 nsv826146 11 133314435 133316156 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436924 S 31 1 0 IGSF9B NA18542 esv275426 11 133322682 133324652 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586136,essv2585305 M 1250 1 1 IGSF9B nsv898473 11 133332943 133493783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583936 S 6533 1 0 JAM3,LOC100128239 IS36727 nsv560 11 133364903 133396244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10847 S 9 1 0 "" NA18956 esv2636277 11 133374488 133376341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262766 S 1 0 1 "" NA18507 esv2251819 11 133375097 133376057 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4940317 S 1 0 1 "" NA18507 nsv523202 11 133388098 133388280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698921 S 2026 0 1 "" esv2001362 11 133421002 133421478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595926 S 1 0 1 "" NA18507 esv1007648 11 133421203 133421292 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565881 S 3 0 1 "" HuRef esv1343637 11 133430596 133430596 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4237310 S 2 1 0 "" HuRef dgv18n68 11 133436383 133485883 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832297,nsv832298 M 95 0 2 JAM3 esv1009143 11 133444577 133444577 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567262 S 3 1 0 JAM3 HuRef esv21560 11 133466768 133469951 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13486 S 451 0 6 JAM3 NA07037,NA12489,NA18511,NA18858,NA18909,NA19108 nsv521581 11 133501689 134147842 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698196 S 2026 1 0 ACAD8,B3GAT1,GLB1L2,GLB1L3,JAM3,LOC283177,NCAPD3,THYN1,VPS26B esv27389 11 133512569 133513670 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18132 S 451 4 0 JAM3 NA11931,NA11995,NA18523,NA19099 esv1036645 11 133512911 133512911 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114696 S 2 1 0 JAM3 HuRef esv28602 11 133538107 133543147 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15944 S 451 0 2 NCAPD3 NA07037,NA12287 nsv832299 11 133545363 133721889 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449541,nssv1449542,nssv1449543 M 95 0 3 ACAD8,GLB1L2,GLB1L3,NCAPD3,THYN1,VPS26B nsv898474 11 133593892 133633523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503421 S 6533 0 1 ACAD8,NCAPD3,THYN1,VPS26B SP52055 nsv826147 11 133598676 133600948 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433094 S 31 1 0 NCAPD3,VPS26B NA18972 nsv898475 11 133610240 133971866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560651 S 6533 1 0 ACAD8,B3GAT1,GLB1L2,GLB1L3,LOC283177,THYN1,VPS26B MS24620 nsv468901 11 133641403 133715739 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543950 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLB1L2,GLB1L3 HGDP00625 nsv826148 11 133648318 133657823 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426953 S 31 1 0 GLB1L3 AK6 nsv826149 11 133652417 133653447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430822 S 31 0 1 GLB1L3 AK16 nsv469992 11 133654072 133715739 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546224,nssv546223,nssv546222 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLB1L2,GLB1L3 HGDP00625,HGDP00987,HGDP00988 dgv170n27 11 133654284 133715739 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468904,nsv468908,nsv468902 M 1557 3 0 GLB1L2,GLB1L3 HGDP00230,HGDP01184,HGDP01329 dgv1326n71 11 133654284 133722075 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv898489,nsv898480,nsv898482,nsv898476,nsv898481 M 6533 27 11 GLB1L2,GLB1L3 IS30084,IS30146,IS34805,IS40581,IS40748,IS41213,IS41839,IS41984,MS14385,MS14846,MS17400,MS20269,MS23714,MS24080,MS25227,SP50126,SP50129,SP50178,SP50615,SP51140,SP51221,SP52094,SP52940,SP53044,SP53196,SP54299,SP54350,SP54587,SP54734,SP55547,SP56234,SP56633,SP57058,SP57062,SP57507,SP57577,SP57659,SP81347 dgv1327n71 11 133654284 133722075 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898478,nsv898479,nsv898484,nsv898487,nsv898486,nsv898477,nsv898485,nsv898483 M 6533 20 0 GLB1L2,GLB1L3 MS10356,MS11049,MS12561,MS13629,MS16056,MS17658,MS19638,SP50623,SP51242,SP51481,SP52634,SP53803,SP55500,SP56003,SP56307,SP57217,SP57865,SP81040,SP81361,SP81387 nsv516459 11 133654284 133722075 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692985,nssv691711,nssv672299,nssv703662,nssv668532,nssv683581,nssv684190,nssv677980,nssv683940 M 2026 3 6 GLB1L2,GLB1L3 esv2475970 11 133656082 133720297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268939 S 1 0 1 GLB1L2,GLB1L3 NA18507 dgv171n27 11 133663955 133715739 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468907,nsv468909,nsv468903,nsv468906 M 1557 0 4 GLB1L2,GLB1L3 HGDP00031,HGDP00205,HGDP00775,NINDS_26 nsv469993 11 133663955 133715739 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546225 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLB1L2,GLB1L3 HGDP01184 nsv898488 11 133669828 133708748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581459 S 6533 0 1 GLB1L2,GLB1L3 IS35581 nsv898490 11 133676707 133722075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503787 S 6533 1 0 GLB1L2,GLB1L3 SP52110 dgv4e196 11 133679543 134119769 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422337,esv2422259 M 181 2 0 B3GAT1,GLB1L2,GLB1L3,LOC283177 ND02256,ND03627 nsv521623 11 133682485 134132097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694467 S 2026 1 0 B3GAT1,GLB1L2,GLB1L3,LOC283177 nsv898491 11 133693752 133823692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514148 S 6533 1 0 B3GAT1,GLB1L2,GLB1L3,LOC283177 SP55952 nsv898492 11 133701342 133731488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556268 S 6533 0 1 GLB1L2 MS21868 nsv826150 11 133704038 133716979 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426954 S 31 1 0 GLB1L2 AK6 dgv1328n71 11 133723510 133795576 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898494,nsv898493 M 6533 0 2 B3GAT1,GLB1L2 MS10123,MS10311 nsv561 11 133728651 133755602 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5388 S 9 1 0 B3GAT1,GLB1L2 NA19129 esv1324855 11 133744639 133744639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849055 S 2 1 0 GLB1L2 HuRef esv1006179 11 133744691 133744691 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570518 S 3 1 0 GLB1L2 HuRef nsv524977 11 133745734 133750494 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701006 S 2026 0 1 GLB1L2 nsv898495 11 133746304 133795576 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592279,nssv1575120 M 6533 0 2 B3GAT1,GLB1L2 IS33684,IS39233 nsv898496 11 133749532 133832679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546807 S 6533 0 1 B3GAT1,GLB1L2,LOC283177 MS17208 esv1009565 11 133750846 133751055 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582669 S 3 0 1 GLB1L2 HuRef esv1724782 11 133751055 133751265 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752791 S 2 0 1 GLB1L2 HuRef nsv898497 11 133752397 133783464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596058 S 6533 0 1 B3GAT1 IS40396 esv22213 11 133783334 133784014 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20052 S 451 1 0 B3GAT1 NA18502 esv28612 11 133787242 133787747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19230 S 451 0 1 "" NA07045 esv272686 11 133810827 133811175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581803,essv2582492,essv2582926,essv2584337,essv2584738,essv2583308 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv270859 11 133810827 133811182 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558160,essv2565815,essv2575942,essv2540925,essv2546249,essv2521449,essv2526294,essv2542561,essv2536711,essv2522662,essv2543820,essv2571004,essv2556791,essv2568386,essv2545687,essv2531882,essv2577458,essv2570366,essv2548627,essv2521491,essv2576602,essv2525257,essv2535013,essv2544275,essv2552091,essv2520504,essv2547321,essv2529402,essv2558418,essv2564332,essv2578043,essv2553557,essv2559705,essv2565237,essv2555015,essv2530616,essv2537200,essv2528231,essv2546792,essv2540011,essv2520790,essv2557580,essv2557123,essv2552502,essv2551680,essv2532338,essv2562590,essv2569595,essv2578835,essv2550227,essv2558905,essv2537056,essv2569863,essv2527036,essv2561358,essv2544893,essv2563061,essv2523637,essv2553095,essv2541313,essv2538447,essv2542993,essv2540578,essv2524454,essv2565180,essv2534550,essv2560977,essv2539725,essv2549212,essv2519508,essv2560151,essv2565974,essv2531021,essv2532532,essv2567671,essv2528732,essv2567410,essv2541656,essv2569987,essv2563626,essv2553122,essv2535617,essv2572554,essv2559279,essv2566755,essv2542009,essv2550947,essv2569132,essv2543646,essv2556161,essv2528138,essv2562299,essv2533843,essv2578382,essv2573176,essv2555396,essv2533798,essv2555589,essv2567187,essv2566564,essv2530018,essv2573984,essv2555999,essv2534458,essv2522614,essv2573708,essv2543183,essv2576999,essv2572018,essv2525709,essv2526770,essv2529751,essv2575569,essv2575291,essv2538529,essv2526526,essv2560784,essv2524086,essv2560820,essv2574687,essv2572715,essv2568482,essv2545182,essv2560454,essv2548064,essv2549791,essv2571425,essv2545860,essv2574086,essv2551478,essv2536043,essv2538042,essv2548752,essv2533250,essv2554420,essv2547929,essv2524936,essv2563423 M 157 138 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12872,NA12873,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18956,NA18959,NA18960,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv2750984 11 133811431 133922969 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986430,essv6983423 M 771 1 0 LOC283177 BEC_652 nsv898498 11 133812127 133889790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564089 S 6533 1 0 LOC283177 IS30163 esv2599586 11 133815066 133815987 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373818 S 1 1 0 LOC283177 NA18507 dgv55e55 11 133816000 134263730 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2750986,esv2750985 M 771 2 0 LOC283177 BEC_521,SPC_10 nsv898499 11 133820709 133849939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538670 S 6533 0 1 LOC283177 MS13770 nsv39776 11 133827065 133827134 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv58354 M 24 LOC283177 esv2481891 11 133832215 133833759 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273807 S 1 0 1 LOC283177 NA18507 esv989808 11 133832721 133832950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573894 S 3 0 1 LOC283177 HuRef esv1608288 11 133832819 133833049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299243 S 2 0 1 LOC283177 HuRef nsv898500 11 133838570 133970430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555349 S 6533 0 1 LOC283177 MS21290 dgv172n27 11 133849939 134239506 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468924,nsv468922,nsv468919,nsv468913,nsv468923,nsv468920,nsv468918,nsv468929,nsv468921,nsv468917 M 1557 10 0 LOC283177 1780854445_A,1780854467_A,1780862388_A,1780862484_A,1780862540_A,1782681210_A,1798860280_A,HGDP00671,NINDS_135,NINDS_147 nsv517742 11 133851329 134239506 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660646,nssv681851,nssv681096,nssv691551,nssv699881,nssv660554,nssv701282,nssv679070,nssv702829,nssv667462,nssv680301,nssv663316,nssv661185,nssv659587,nssv669370,nssv657982,nssv665328,nssv674297,nssv692642,nssv705029,nssv686858,nssv654353,nssv674825,nssv653074,nssv657093,nssv681246 M 2026 20 6 LOC283177 dgv1329n71 11 133854964 133971866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898501,nsv898502,nsv898513,nsv898510,nsv898520,nsv898525,nsv898522,nsv898515,nsv898507,nsv898516,nsv898512,nsv898511,nsv898505,nsv898506 M 6533 0 77 LOC283177 IS33630,IS40557,MS10060,MS10064,MS10756,MS10797,MS11181,MS12103,MS12149,MS13712,MS13866,MS14035,MS14304,MS14913,MS14938,MS15168,MS15371,MS15410,MS15601,MS15788,MS15921,MS15922,MS16124,MS16314,MS16334,MS16808,MS17164,MS17255,MS17310,MS17394,MS17400,MS17438,MS17504,MS17689,MS17915,MS18101,MS18201,MS18414,MS18510,MS19008,MS19437,MS19458,MS19533,MS19576,MS19634,MS20204,MS20640,MS21071,MS21506,MS21626,MS21709,MS21986,MS22088,MS22678,MS22764,MS23628,MS23670,MS23811,MS23997,MS24210,MS24672,MS24785,MS24935,MS24970,MS25038,MS25101,MS25375,MS25394,MS25402,MS25412,MS25484,MS25653,MS25756,MS25771,MS25870,MS25902,MS26118 dgv1330n71 11 133854964 134001669 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898509,nsv898523,nsv898503,nsv898524,nsv898526,nsv898508,nsv898504,nsv898518,nsv898521,nsv898517,nsv898514 M 6533 0 56 LOC283177 MS10593,MS10611,MS10665,MS10720,MS10735,MS10737,MS10871,MS10942,MS11352,MS11703,MS11722,MS12039,MS12983,MS13168,MS13169,MS13257,MS13362,MS13793,MS13932,MS14216,MS14305,MS14752,MS15097,MS15118,MS15525,MS15873,MS16055,MS16164,MS16209,MS16521,MS16559,MS16580,MS16607,MS16981,MS17449,MS17678,MS18175,MS18694,MS18876,MS18896,MS19808,MS20170,MS20239,MS20854,MS20987,MS21483,MS22000,MS22351,MS22492,MS22959,MS23789,MS24877,MS25373,MS25648,MS25700,SP51473 nsv469994 11 133859722 133971865 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546226 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283177 HGDP00491 nsv468928 11 133859722 133971866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543970 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283177 HGDP00491 esv1584588 11 133861584 133861642 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895309 S 2 0 1 LOC283177 HuRef esv27831 11 133864405 133864900 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16349 S 451 1 0 LOC283177 NA18909 esv2106131 11 133864417 133864879 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868151 S 1 0 1 LOC283177 NA18507 esv1003035 11 133864524 133864721 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582546 S 3 0 1 LOC283177 HuRef esv1458612 11 133864575 133864773 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616500 S 2 0 1 LOC283177 HuRef nsv898519 11 133865096 133916601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514149 S 6533 1 0 LOC283177 SP55952 nsv826151 11 133877809 133905812 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439170 S 31 1 0 LOC283177 NA18973 esv2391068 11 133882842 133883300 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878648 S 1 0 1 "" NA18507 esv21999 11 133898268 133900012 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16735,esv17030 M 451 1 2 "" NA07045,NA12776,NA15510 esv2446464 11 133904368 133906030 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224306 S 1 0 1 "" NA18507 nsv898527 11 133904970 133984501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556688 S 6533 0 1 "" MS22112 esv1109453 11 133905365 133905437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950174 S 2 0 1 "" HuRef esv2183237 11 133906654 133907107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675204 S 1 0 1 "" NA18507 nsv898528 11 133917949 133970430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539324,nssv1561046 M 6533 0 2 "" MS14296,MS24808 nsv898529 11 133930525 134018648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546808 S 6533 0 1 "" MS17208 esv2545016 11 133940108 133941123 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277866 S 1 1 0 "" NA18507 nsv510283 11 133991925 133997925 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621354 S 4 0 1 "" NA15510 esv1009883 11 134014355 134014355 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581792 S 3 1 0 "" HuRef esv1490416 11 134014409 134014409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653067 S 2 1 0 "" HuRef dgv1331n71 11 134023948 134076145 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898531,nsv898530 M 6533 0 5 "" IS31765,IS33596,IS39046,IS40197,IS40867 esv2562809 11 134031377 134032245 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240695 S 1 1 0 "" NA18507 esv1184328 11 134031721 134031721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113349 S 2 1 0 "" HuRef esv1219322 11 134031809 134031809 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300195 S 2 1 0 "" HuRef esv24697 11 134039033 134039608 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10909 S 451 0 4 "" NA19108,NA19147,NA19225,NA19240 nsv898532 11 134043708 134076145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572350 S 6533 0 1 "" IS32998 esv2422348 11 134065431 134179378 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161500 S 181 1 0 "" ND05691 nsv8881 11 134079182 134112735 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23914,nssv20717,nssv23335,nssv20949,nssv20283,nssv18682,nssv25490,nssv21478,nssv23238,nssv18220,nssv20485,nssv22621,nssv20535,nssv18401,nssv20150,nssv21218,nssv19232,nssv20206,nssv22573,nssv20579,nssv23613,nssv18649,nssv20358,nssv23010,nssv20006,nssv20046,nssv21097,nssv20314,nssv19614 M 31 29 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv29111 11 134080388 134112853 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13475,esv18578,esv19796,esv19695 M 451 31 5 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv818874 11 134081426 134103253 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418188,nssv1418189 M 112 2 0 "" NA19143,NA19145 nsv468935 11 134081426 134108466 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543972 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00924 esv2421349 11 134085524 134108160 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051761,essv5114429,essv5106414,essv5118389,essv5113921,essv5151699,essv5070907,essv5022001,essv5006073,essv5141813,essv5010547,essv5146671,essv5080589,essv5049717 M 1184 14 0 "" NA12718,NA18508,NA18858,NA18860,NA18916,NA19107,NA19143,NA19175,NA19190,NA19352,NA19434,NA19762,NA19763,NA21693 nsv442247 11 134085524 134108160 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv449e1 11 134085801 134113081 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11363,essv16599 M 271 0 0 "" NA18858,NA18860 esv1433 11 134085801 134147144 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 "" nsv469995 11 134087882 134126813 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546227,nssv546228 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00471,HGDP01254 dgv1332n71 11 134100984 134126220 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898534,nsv898533 M 6533 7 0 "" IS38374,IS40062,IS40222,IS40280,IS40571,IS41009,IS41888 dgv173n27 11 134103253 134122531 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468939,nsv468936,nsv468937 M 1557 3 0 "" 1780862310_A,HGDP00208,NINDS_123 nsv562 11 134105347 134113585 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4001 S 9 0 1 "" NA12878 esv34216 11 134106222 134131333 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979321,essv6979322,essv6990350 M 771 1 0 "" NA18529 nsv820646 11 134106669 134112853 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420965 S 1 0 1 "" NA10851 dgv253n67 11 134106669 134112954 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826153,nsv826152 M 31 0 4 "" NA18566,NA18570,NA18582,NA18949 nsv498774 11 134107188 134112876 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585597 S 9 0 1 "" nsv819307 11 134107759 134112063 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419624 S 2 1 0 "" AK1 nsv826155 11 134108580 134110210 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429312 S 31 0 1 "" AK12 dgv254n67 11 134108580 134112839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826158,nsv826156,nsv826157,nsv826159 M 31 0 14 "" AK10,AK16,AK20,AK4,NA18526,NA18537,NA18552,NA18564,NA18592,NA18942,NA18947,NA18969,NA18973,NA18999 nsv826160 11 134108580 134132191 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436090 S 31 1 0 "" NA18566 esv33486 11 134108809 134112837 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101188,essv93910,essv96854,essv94095,essv95687,essv95502,essv99066,essv92797,essv98119,essv100294,essv99389,essv98396 M 51 1 11 "" 21618,21634,21659,21802,21841,21847,21938,21944,22259,22300,22335,22352 nsv514597 11 134109096 134111880 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628127 S 1414 0 1 "" esv2610682 11 134109923 134111596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320774 S 1 0 1 "" NA18507 esv2037674 11 134110144 134110645 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741861 S 1 0 1 "" NA18507 esv2196690 11 134110259 134111138 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4623399 S 1 0 1 "" NA18507 esv1001283 11 134110328 134111011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567741 S 3 0 1 "" HuRef nsv826161 11 134110957 134112839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425231 S 31 0 1 "" AK2 dgv450e1 11 134113081 134147144 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4532,essv6539,essv1662 M 271 0 0 "" NA18566,NA18611,NA18961 essv4519 11 134113289 134131333 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18623 nsv468940 11 134113328 134122531 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543976 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01254 esv1923119 11 134115091 134115481 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818400 S 1 0 1 "" NA18507 nsv898535 11 134117862 134132097 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527013 S 6533 1 0 "" SP58062 dgv1333n71 11 134117862 134140452 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898537,nsv898538,nsv898536 M 6533 9 0 "" MS10491,SP50694,SP50925,SP53491,SP54636,SP55548,SP56294,SP58502,SP81212 nsv442248 11 134119190 134132093 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818875 11 134119393 134132097 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417108 S 112 1 0 "" NA18529 essv4101 11 134120636 134131333 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18529 dgv56e55 11 134121000 134131333 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34449,esv34369 M 771 2 0 "" NA18566,NA18611 nsv563 11 134122427 134157753 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1052 S 9 1 0 "" NA19240 dgv1334n71 11 134123615 134176518 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898539,nsv898540 M 6533 2 0 "" IS35354,MS23798 esv2301412 11 134124894 134125334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716189 S 1 0 1 "" NA18507 nsv38690 11 134125047 134125118 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57268 M 24 "" esv1420501 11 134135030 134135030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161700 S 2 1 0 "" HuRef esv990603 11 134135305 134135452 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575867 S 3 0 1 "" HuRef esv1646066 11 134135329 134135477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803768 S 2 0 1 "" HuRef nsv898541 11 134140452 134176518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544623 S 6533 1 0 "" MS16399 nsv832300 11 134144181 134341450 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449544 S 95 1 0 "" nsv826162 11 134156500 134162571 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426955 S 31 0 1 "" AK6 esv272112 11 134164734 134165061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546170,essv2542490,essv2536725,essv2544189,essv2523340,essv2553980,essv2558474,essv2532416,essv2578836,essv2563020,essv2523548,essv2552788,essv2541273,essv2540231,essv2534577,essv2561012,essv2549184,essv2522260,essv2566110,essv2530968,essv2532457,essv2567887,essv2528665,essv2570200,essv2563853,essv2553149,essv2535665,essv2533589,essv2566509,essv2529861,essv2573862,essv2527439,essv2555887,essv2573494,essv2573307,essv2571963,essv2525816,essv2526894,essv2536311,essv2524807 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11881,NA11919,NA11920,NA11992,NA12004,NA12287,NA12750,NA18505,NA18510,NA18532,NA18537,NA18542,NA18545,NA18552,NA18561,NA18562,NA18564,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18603,NA18605,NA18608,NA18944,NA18948,NA18949,NA18951,NA18952,NA18956,NA18964,NA18969,NA18973,NA18980,NA19005 esv2218921 11 134170408 134170763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524285 S 1 0 1 "" NA18507 esv1005261 11 134170856 134170905 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566024 S 3 0 1 "" HuRef esv1480363 11 134170899 134170949 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350881 S 2 0 1 "" HuRef esv1458631 11 134202546 134202546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657061 S 2 1 0 "" HuRef esv1216380 11 134202974 134203128 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363547 S 2 0 1 "" HuRef esv1243785 11 134205685 134205685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756400 S 2 1 0 "" HuRef nsv564 11 134207001 134240425 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5389 S 9 1 0 "" NA19129 nsv468941 11 134211153 134255459 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543977 S 1557 1 0 "" NINDS_162 esv2529892 11 134214084 134216102 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252395 S 1 0 1 "" NA18507 esv2126063 11 134214382 134215558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737997 S 1 0 1 "" NA18507 esv26339 11 134214576 134215482 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11092 S 451 2 2 "" NA11931,NA12004,NA18502,NA18858 nsv820538 11 134214576 134215482 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420966 S 1 0 1 "" NA10851 esv1577939 11 134215064 134215429 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746027 S 2 0 1 "" HuRef nsv510284 11 134220589 134226589 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622151 S 4 0 1 "" NA10860 nsv524252 11 134226681 134243480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700148 S 2026 0 1 "" esv24382 11 134226837 134227427 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15578 S 451 1 0 "" NA19240 esv6285 11 134238059 134239382 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28726 S 1 0 1 "" SJK esv27596 11 134238116 134239296 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16156,esv16372 M 451 33 0 "" NA06985,NA07037,NA07045,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821032 11 134238116 134239333 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420967 S 1 0 1 "" NA10851 nsv826163 11 134238116 134239333 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421484,nssv1431551,nssv1435208,nssv1422070,nssv1441380,nssv1429313,nssv1423666,nssv1440571,nssv1424464 M 31 3 6 "" AK12,AK18,NA18547,NA18564,NA18582,NA18592,NA18969,NA18997,NA18999 dgv255n67 11 134238439 134239333 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826164,nsv826166 M 31 0 11 "" AK14,AK2,AK6,NA18542,NA18566,NA18570,NA18942,NA18947,NA18951,NA18968,NA18973 nsv826167 11 134238840 134239333 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433095 S 31 0 1 "" NA18972 nsv525201 11 134244141 134247906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701283 S 2026 0 1 "" esv23393 11 134247709 134253952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21106 S 451 0 1 "" NA18502 nsv519954 11 134265783 134278635 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697144 S 2026 0 1 "" dgv86n21 11 134268351 134349020 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518392,nsv523390 M 2026 0 2 "" esv9476 11 134280121 134280185 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31917 S 1 1 0 "" SJK nsv520057 11 134292195 134331468 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697199 S 2026 1 0 "" esv1010856 11 134295493 134312797 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565349 S 3 0 1 "" HuRef nsv820825 11 134300140 134305576 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420968 S 1 0 1 "" NA10851 esv25317 11 134300140 134311873 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18093,esv10442,esv10430 M 451 6 11 "" NA07045,NA12004,NA12006,NA12239,NA12489,NA12776,NA18517,NA18523,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv512245 11 134301553 134305014 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624817 S 1 0 1 "" 1 nsv514598 11 134301584 134305216 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627113 S 1414 0 0 "" esv995408 11 134302256 134310631 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563467 S 3 0 1 "" HuRef dgv1335n71 11 134308333 134400146 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898542,nsv898549,nsv898545,nsv898546,nsv898543 M 6533 5 0 "" IS30063,IS31123,IS34804,IS35954,IS40475 nsv898544 11 134308333 134452384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540917 S 6533 0 1 "" MS15092 esv2491513 11 134308602 134311707 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349832 S 1 0 1 "" NA18507 nsv821547 11 134308750 134311260 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420970 S 1 0 1 "" NA10851 nsv512246 11 134308982 134310663 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624818 S 1 0 1 "" 1 esv2260751 11 134310250 134310787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884213 S 1 0 1 "" NA18507 nsv898547 11 134312601 134452384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568635 S 6533 1 0 "" IS31323 nsv898548 11 134317533 134365174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600221 S 6533 1 0 "" IS41860 nsv565 11 134327223 134339349 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1972 S 9 0 1 "" NA18555 nsv898550 11 134331468 134392238 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596122 S 6533 1 0 "" IS40402 esv1920949 11 134336413 134336950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651151 S 1 0 1 "" NA18507 nsv898551 11 134392238 134452384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516281 S 6533 1 0 "" SP56734 nsv39258 11 134404665 134404742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv57836 M 24 "" esv29476 11 134414510 134418045 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15983 S 451 2 8 "" NA07045,NA12004,NA12156,NA18517,NA18523,NA18909,NA19099,NA19129,NA19225,NA19240 nsv821533 11 134414510 134418045 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420971 S 1 0 1 "" NA10851 nsv512247 11 134414949 134417818 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624819 S 1 0 1 "" 1 nsv522313 11 134432384 134445626 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695093 S 2026 1 0 "" nsv826168 11 134447332 134450574 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429137 S 31 1 0 "" NA18947 esv21926 11 134451353 134451823 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17070 S 451 0 1 "" NA07045 nsv820191 12 1 62240 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418753 S 2 0 1 FAM138D,IQSEC3 AK1 nsv8882 12 16001 57115 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21127,nssv25513,nssv23941 M 31 2 1 Samples from several populations that are part of the HapMap project. FAM138D,IQSEC3 NA11830,NA18860,NA19221 nsv428269 12 16594 214560 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452221,nssv452239,nssv452238 M 62 2 1 FAM138D,IQSEC3,LOC574538,SLC6A12,SLC6A13 HGDP00476,HGDP01088,NA19181 nsv832301 12 16595 139071 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449545,nssv1449546 M 95 1 1 FAM138D,IQSEC3,LOC574538 esv24198 12 17370 60363 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11271,esv20382,esv13891,esv16342 M 451 17 9 FAM138D,IQSEC3 NA07037,NA11894,NA11993,NA11995,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18505,NA18508,NA18511,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821041 12 17370 64628 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420972 S 1 1 0 FAM138D,IQSEC3 NA10851 nsv826169 12 17370 64628 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432323,nssv1435219,nssv1441381,nssv1439174,nssv1421496,nssv1431552,nssv1426033,nssv1437679,nssv1428707,nssv1422071,nssv1425233,nssv1439894,nssv1422847,nssv1429314,nssv1433896,nssv1423667,nssv1436926,nssv1430052,nssv1433096,nssv1426957,nssv1435337,nssv1436092,nssv1429149,nssv1440572,nssv1438362,nssv1424465,nssv1428551,nssv1430824,nssv1427734,nssv1434628 M 31 30 0 FAM138D,IQSEC3 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv898552 12 25013 173581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520906 S 6533 1 0 IQSEC3,LOC574538,SLC6A12 SP51297 esv998021 12 25044 25271 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579459 S 3 0 1 "" HuRef esv992016 12 34960 36275 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565111 S 3 1 0 "" HuRef nsv832302 12 36819 214262 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449547 S 95 1 0 IQSEC3,LOC574538,SLC6A12,SLC6A13 nsv898553 12 39609 95576 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514865 S 6533 1 0 IQSEC3 SP56086 dgv1336n71 12 52602 169304 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898555,nsv898554 M 6533 2 0 IQSEC3,LOC574538 IS31563,SP53643 nsv468943 12 64079 148637 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543978 S 1557 1 0 IQSEC3,LOC574538 NINDS_73 nsv470252 12 64079 173581 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546863,nssv546862 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IQSEC3,LOC574538,SLC6A12 HGDP00894,HGDP00903 nsv826170 12 74787 100251 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439175 S 31 1 0 IQSEC3 NA18973 nsv567 12 80149 107815 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5390 S 9 1 0 IQSEC3 NA19129 esv1788942 12 83291 83291 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819172 S 2 1 0 IQSEC3 HuRef nsv898556 12 91464 134100 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525646 S 6533 1 0 IQSEC3,LOC574538 SP56750 nsv898557 12 91464 238163 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553716 S 6533 1 0 IQSEC3,LOC574538,SLC6A12,SLC6A13 MS20251 nsv826171 12 117888 119028 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433098 S 31 1 0 IQSEC3,LOC574538 NA18972 nsv826172 12 118693 119153 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441382 S 31 1 0 IQSEC3,LOC574538 NA18969 nsv898558 12 120866 150610 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577176 S 6533 1 0 IQSEC3,LOC574538 IS34381 nsv568 12 125109 159147 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2874 S 9 1 0 IQSEC3,LOC574538 NA18555 esv1944737 12 130302 130822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703454 S 1 0 1 IQSEC3 NA18507 dgv87n21 12 130943 173581 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv515938,nsv517911 M 2026 0 13 IQSEC3,SLC6A12 nsv898559 12 134397 180595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592280 S 6533 0 1 IQSEC3,SLC6A12 IS39233 nsv898560 12 139792 219559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546809 S 6533 0 1 IQSEC3,SLC6A12,SLC6A13 MS17208 esv2445422 12 142387 143213 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316983 S 1 1 0 IQSEC3 NA18507 nsv468947 12 149719 248165 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543979 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IQSEC3,SLC6A12,SLC6A13 HGDP00937 nsv898561 12 150610 206183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530088 S 6533 1 0 IQSEC3,SLC6A12,SLC6A13 MS10195 nsv898562 12 155371 188627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510870 S 6533 0 1 IQSEC3,SLC6A12 SP54988 nsv569 12 159235 175985 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4002 S 9 0 1 SLC6A12 NA12878 nsv498775 12 162489 168229 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585608 S 9 0 1 "" esv24950 12 162495 166960 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15258 S 451 0 1 "" NA12878 nsv523142 12 169304 203121 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698849 S 2026 1 0 SLC6A12,SLC6A13 esv2319687 12 172093 172514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899215 S 1 0 1 SLC6A12 NA18507 esv2627142 12 176308 176749 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330847 S 1 1 0 SLC6A12 NA18507 esv1221367 12 176623 176623 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034185 S 2 1 0 SLC6A12 HuRef esv1501218 12 176633 176633 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589311 S 2 1 0 SLC6A12 HuRef esv2145006 12 195352 195702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553919 S 1 0 1 "" NA18507 nsv470253 12 197682 229724 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546864 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC6A13 HGDP00937 nsv898563 12 203121 364161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525937 S 6533 1 0 KDM5A,SLC6A13 SP56899 dgv451e1 12 205271 303412 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18027,essv18788 M 271 0 0 KDM5A,SLC6A13 NA12878,NA12891 dgv452e1 12 205271 860805 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11814,esv661 M 271 0 0 B4GALNT3,CCDC77,KDM5A,NINJ2,SLC6A13,WNK1 NA18521 nsv570 12 237052 266084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4003 S 9 0 1 KDM5A,SLC6A13 NA12878 esv2252314 12 238584 238933 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604687 S 1 0 1 SLC6A13 NA18507 nsv898564 12 238737 285317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565627 S 6533 0 1 KDM5A,SLC6A13 IS30487 esv34939 12 242047 303412 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979090,essv6988100 M 771 0 1 KDM5A,SLC6A13 NA12891 nsv521387 12 243381 258468 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697997 S 2026 1 0 "" nsv498776 12 247757 255095 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585619 S 9 0 1 "" esv26374 12 247848 255068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14679 S 451 0 1 "" NA12878 nsv442249 12 248989 255352 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv819688 12 276299 285791 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418579 S 2 0 1 KDM5A AK1 esv33025 12 297784 302927 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93998 S 51 1 0 KDM5A 21802 nsv898565 12 298392 434446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527624 S 6533 1 0 CCDC77,KDM5A SP58575 nsv8883 12 300400 303084 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23266,nssv20036,nssv18635,nssv18712 M 31 1 3 Samples from several populations that are part of the HapMap project. KDM5A NA10847,NA18517,NA18942,NA19007 esv33918 12 302927 306716 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96537 S 51 1 0 KDM5A 22261 nsv442250 12 303069 414108 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CCDC77,KDM5A essv9499 12 303412 413467 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC77,KDM5A NA18521 nsv898566 12 369302 441178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526812 S 6533 0 1 B4GALNT3,CCDC77 SP57852 nsv514668 12 376735 391793 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627114 S 1414 0 0 CCDC77 nsv571 12 387223 429908 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5391,nssv1053 M 9 2 0 CCDC77 NA19129,NA19240 nsv509448 12 388234 411870 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618089 S 4 1 0 CCDC77 CHM nsv8884 12 393986 408850 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18742,nssv20609,nssv18679,nssv22603,nssv23038,nssv19644,nssv20106,nssv20344,nssv20565,nssv20236,nssv20777,nssv23641,nssv20388 M 31 2 11 Samples from several populations that are part of the HapMap project. CCDC77 NA10839,NA10863,NA18502,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA19173 esv2403049 12 394543 394941 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938372 S 1 0 1 CCDC77 NA18507 esv1001309 12 397349 402297 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564531 S 3 1 0 CCDC77 HuRef esv2009381 12 398649 400731 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577389 S 1 0 1 CCDC77 NA18507 esv2160803 12 398701 399064 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4537979 S 1 0 1 CCDC77 NA18507 esv2313112 12 398736 399898 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868745 S 1 0 1 CCDC77 NA18507 esv1005158 12 398912 401702 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586444 S 3 1 0 CCDC77 HuRef esv29798 12 398912 401778 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14717 S 451 0 20 CCDC77 NA07037,NA11894,NA12006,NA12156,NA12749,NA12878,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225 esv1225237 12 399503 399726 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866544 S 2 0 1 CCDC77 HuRef esv1479845 12 399962 400995 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134227 S 2 0 1 CCDC77 HuRef esv1463722 12 401031 401326 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158465 S 2 0 1 CCDC77 HuRef esv1623775 12 401327 401474 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069596 S 2 0 1 CCDC77 HuRef dgv1337n71 12 417944 840061 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898568,nsv898567 M 6533 2 0 B4GALNT3,CCDC77,NINJ2,WNK1 IS30967,IS36975 esv988269 12 418661 427012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564074 S 3 0 1 CCDC77 HuRef nsv898569 12 444131 646732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578487 S 6533 1 0 B4GALNT3,NINJ2 IS34789 nsv898570 12 445894 481570 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569367 S 6533 1 0 B4GALNT3 IS31563 nsv468948 12 454615 488242 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543980 S 1557 1 0 B4GALNT3 NINDS_217 nsv898571 12 474882 543544 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568213 S 6533 1 0 B4GALNT3 IS31213 esv21735 12 490343 492751 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20083 S 451 0 2 B4GALNT3 NA12878,NA19108 esv2210414 12 490522 491106 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580863 S 1 0 1 B4GALNT3 NA18507 esv1142574 12 490847 491145 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130309 S 2 0 1 B4GALNT3 HuRef esv1129945 12 491153 491866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114869 S 2 0 1 B4GALNT3 HuRef esv1270072 12 491909 492086 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949934 S 2 0 1 B4GALNT3 HuRef nsv468951 12 495208 653745 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543983 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations B4GALNT3,NINJ2 HGDP00937 nsv470254 12 495208 653745 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546866 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations B4GALNT3,NINJ2 HGDP00937 nsv8885 12 502781 504968 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18802 S 31 0 1 Samples from several populations that are part of the HapMap project. B4GALNT3 NA18942 nsv8886 12 515433 518042 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21508 S 31 0 1 Samples from several populations that are part of the HapMap project. B4GALNT3 NA19144 esv1181627 12 523623 523623 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137381 S 2 1 0 B4GALNT3 HuRef nsv8887 12 530087 537136 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23096 S 31 1 0 Samples from several populations that are part of the HapMap project. B4GALNT3 NA18502 nsv898572 12 533099 581907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513104 S 6533 1 0 B4GALNT3,NINJ2 SP55683 nsv519441 12 539571 586770 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694072 S 2026 1 0 B4GALNT3,NINJ2 esv1606062 12 556865 556865 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005927 S 2 1 0 NINJ2 HuRef nsv527632 12 560734 568895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704100 S 2026 0 1 NINJ2 dgv1338n71 12 560734 673749 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898573,nsv898574 M 6533 2 0 NINJ2 SP52060,SP55808 esv1113146 12 561875 562191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901224 S 2 0 1 NINJ2 HuRef esv2249356 12 570050 570540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956083 S 1 0 1 NINJ2 NA18507 esv995402 12 570199 570446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578082 S 3 0 1 NINJ2 HuRef esv1449891 12 570234 570482 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200895 S 2 0 1 NINJ2 HuRef esv989890 12 570256 570884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563876 S 3 0 1 NINJ2 HuRef esv29801 12 622220 622808 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12947 S 451 0 1 NINJ2 NA07045 nsv826173 12 638367 639561 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432324 S 31 0 1 NINJ2 AK20 nsv818876 12 642719 666392 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417393 S 112 1 0 NINJ2 NA18949 dgv174n27 12 642719 673749 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468958,nsv468957 M 1557 2 0 NINJ2 HGDP01250,HGDP01345 nsv898575 12 642719 673749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528403 S 6533 1 0 NINJ2 SP81213 nsv826174 12 643014 666809 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437680 S 31 1 0 NINJ2 NA18949 nsv518881 12 643523 666392 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696340 S 2026 1 0 "" esv2615367 12 649281 650788 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180107 S 1 0 1 "" NA18507 nsv520819 12 650167 659891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675760,nssv678504 M 2026 0 2 "" esv1188633 12 655630 655630 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589028 S 2 1 0 "" HuRef essv9497 12 656499 834812 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. WNK1 NA18521 nsv898576 12 683672 1423711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549555 S 6533 0 1 ERC1,RAD52,WNK1 MS18267 nsv511011 12 718807 745308 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622386 S 4 0 0 WNK1 NA10860 nsv468959 12 720874 792669 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543986 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WNK1 HGDP00206 nsv518946 12 724592 831597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696412 S 2026 0 1 WNK1 nsv437133 12 736231 758581 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467014 S 60 0 1 Samples from several populations that are part of the HapMap project. WNK1 NA12802 dgv27e180 12 736431 746200 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988659,esv1005879 M 3 0 1 WNK1 HuRef nsv819875 12 736551 744744 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419862 S 2 1 0 WNK1 AK1 nsv8888 12 736616 745394 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20515,nssv20266,nssv23363,nssv20313,nssv21157,nssv23124,nssv22651,nssv22633,nssv18461,nssv18709,nssv20136,nssv20639,nssv19262,nssv18832,nssv18665,nssv20448,nssv21538,nssv20066,nssv23968,nssv20180,nssv20595,nssv25536,nssv19674,nssv23669,nssv23294,nssv20374 M 31 26 0 Samples from several populations that are part of the HapMap project. WNK1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv821212 12 736638 745378 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420973 S 1 0 1 WNK1 NA10851 nsv826175 12 736638 745388 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430053 S 31 0 1 WNK1 AK14 esv24614 12 736993 745259 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18415 S 451 34 0 WNK1 NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv514674 12 739341 744176 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628128 S 1414 0 1 WNK1 esv2422082 12 739370 744290 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027420,essv5007922,essv5032181,essv5036883,essv5145191,essv5121726,essv5043700,essv5128659,essv5054032,essv5080336,essv5138950,essv5024546,essv5121966,essv5023487,essv5154086,essv5075853,essv5152003,essv5102352,essv5022475,essv5065715,essv5095706,essv5077765,essv5130290,essv5026299,essv5087639,essv5022643,essv5075181,essv5025046,essv5024366,essv5091177,essv5080856,essv5060701,essv5104706,essv5156056,essv5096918,essv5125399,essv5080818,essv5049409,essv5032884,essv5108514,essv5088814,essv5012340,essv5059084,essv5035498,essv5063357,essv5023120,essv5061517,essv5110118,essv5128444,essv5014123,essv5060491,essv5003843,essv5051721,essv5105079,essv5057049,essv5128237,essv5040595,essv5074537,essv5057784,essv5032353,essv5074782,essv5110555,essv5070411,essv5061209,essv5130971,essv5025960,essv5158943,essv5060046,essv5116734,essv5053759,essv5103216,essv5024984,essv5152671,essv5012263,essv5059354,essv5114085,essv5050704,essv5061642,essv5102720,essv5155900,essv5033577,essv5098184,essv5047088,essv5128791,essv5116160,essv5116672,essv5151963,essv5088040,essv5122133,essv5040681,essv5007747,essv5157583,essv5109422,essv5050729,essv5027892,essv5086260,essv5042086,essv5004932,essv5146909,essv5057537,essv5026494,essv5125957,essv5013302,essv5035084,essv5105008,essv5050069,essv5104317,essv5024289,essv5144348,essv5099958,essv5142964,essv5155921,essv5151285,essv5101897,essv5060049,essv5048841,essv5155389,essv5148881,essv5152697,essv5027841,essv5077263,essv5065866,essv5109089,essv5093219,essv5131423 M 1184 0 125 WNK1 NA06989,NA10831,NA10840,NA10852,NA10855,NA10861,NA10864,NA10865,NA11832,NA11892,NA11894,NA11992,NA11993,NA11995,NA12045,NA12056,NA12145,NA12146,NA12155,NA12286,NA12336,NA12343,NA12344,NA12348,NA12400,NA12707,NA12708,NA12716,NA12718,NA12740,NA12750,NA12778,NA12802,NA12815,NA12832,NA12843,NA12877,NA12889,NA12890,NA17980,NA18128,NA18141,NA18143,NA18144,NA18559,NA18563,NA18605,NA18611,NA18613,NA18614,NA18615,NA18616,NA18632,NA18641,NA18670,NA18694,NA18696,NA18945,NA18963,NA19027,NA19054,NA19055,NA19080,NA19226,NA19449,NA19473,NA19658,NA19659,NA19663,NA19665,NA19680,NA19704,NA19705,NA19708,NA19749,NA19773,NA19835,NA19914,NA19985,NA20291,NA20292,NA20302,NA20502,NA20512,NA20516,NA20517,NA20519,NA20525,NA20540,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20756,NA20757,NA20761,NA20775,NA20786,NA20799,NA20801,NA20804,NA20807,NA20808,NA20813,NA20849,NA20851,NA20852,NA20876,NA20890,NA20899,NA20906,NA20910,NA21089,NA21098,NA21115,NA21118,NA21379,NA21390,NA21424,NA21425,NA21596,NA21647,NA21648 nsv442628 12 739370 744290 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 WNK1 nsv898577 12 744151 840061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565965 S 6533 0 1 WNK1 IS30539 nsv898578 12 746549 779992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515982 S 6533 0 1 WNK1 SP56331 nsv524544 12 760163 792669 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700495 S 2026 1 0 WNK1 nsv522901 12 792669 838750 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698559 S 2026 1 0 WNK1 nsv468960 12 845537 1325367 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543987 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERC1,RAD52,WNK1 HGDP00937 esv269252 12 858186 858541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510161,essv2495287,essv2504445,essv2512256,essv2503419,essv2508496,essv2502506,essv2496484,essv2498375,essv2497293,essv2513010,essv2494524,essv2499864,essv2504491,essv2506369,essv2494448,essv2508092,essv2508691,essv2496094,essv2499312,essv2512871,essv2507571,essv2504954,essv2511094,essv2497941,essv2503558,essv2502365,essv2493046,essv2500492,essv2497446,essv2502722,essv2506414,essv2499792 M 157 33 0 Samples from several populations that are part of the HapMap project. WNK1 NA10851,NA11992,NA11993,NA12155,NA12716,NA12717,NA12750,NA18510,NA18526,NA18545,NA18547,NA18550,NA18562,NA18563,NA18566,NA18572,NA18579,NA18592,NA18603,NA18605,NA18609,NA18638,NA18942,NA18944,NA18945,NA18947,NA18948,NA18951,NA18956,NA18959,NA18965,NA19108,NA19225 nsv470256 12 868626 1309022 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546867 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERC1,RAD52,WNK1 HGDP00937 dgv1339n71 12 883437 1439358 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898579,nsv898581,nsv898580 M 6533 3 0 ERC1,RAD52,WNK1 IS32361,MS15749,MS21420 esv2639640 12 898511 900523 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203995 S 1 0 1 RAD52 NA18507 nsv468962 12 917792 990219 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543989 S 1557 1 0 ERC1,RAD52 NINDS_247 nsv516003 12 943313 948337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665662,nssv693566,nssv681116,nssv671144,nssv682484,nssv698086,nssv678091 M 2026 0 7 "" nsv818878 12 945143 948337 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416482 S 112 0 1 "" NA18516 esv2422010 12 945143 949429 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005929,essv5120972,essv5019465,essv5088526,essv5106109,essv5011552,essv5100268,essv5004648,essv5105041,essv5032536,essv5046692,essv5072721,essv5154761,essv5138459,essv5108703,essv5127585,essv5026082,essv5041026,essv5031092,essv5125168,essv5027070,essv5157905,essv5063240,essv5106197,essv5130393,essv5050403,essv5107057,essv5094195,essv5124842,essv5074344,essv5114184,essv5124320,essv5140572,essv5024821,essv5036891,essv5133473 M 1184 0 36 "" NA18516,NA19098,NA19118,NA19179,NA19310,NA19319,NA19332,NA19466,NA19818,NA21312,NA21313,NA21314,NA21360,NA21364,NA21368,NA21405,NA21408,NA21423,NA21425,NA21435,NA21436,NA21473,NA21479,NA21480,NA21512,NA21520,NA21521,NA21526,NA21527,NA21580,NA21583,NA21587,NA21599,NA21613,NA21617,NA21634 nsv521937 12 945797 951115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694706 S 2026 0 1 "" nsv524382 12 978991 995736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700297 S 2026 0 1 ERC1 nsv515491 12 990219 995736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653301,nssv676319 M 2026 0 2 ERC1 esv32742 12 1004613 1005849 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98728 S 51 0 1 ERC1 21606 nsv572 12 1029433 1050209 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9946 S 9 1 0 ERC1 NA18507 esv1992942 12 1031153 1031526 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882166 S 1 0 1 ERC1 NA18507 esv999151 12 1031212 1031212 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584025 S 3 1 0 ERC1 HuRef esv1611548 12 1031430 1031430 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860135 S 2 1 0 ERC1 HuRef esv1000106 12 1046867 1047529 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564963 S 3 1 0 ERC1 HuRef esv998250 12 1063802 1071919 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565311 S 3 0 1 ERC1 HuRef esv1387135 12 1064544 1064677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007397 S 2 0 1 ERC1 HuRef esv1180168 12 1064698 1064905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788004 S 2 0 1 ERC1 HuRef nsv436147 12 1065025 1071648 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466676 S 2 0 1 Samples from several populations that are part of the HapMap project. ERC1 NA18505 esv2510640 12 1100722 1102631 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304849 S 1 0 1 ERC1 NA18507 esv8484 12 1101070 1102054 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30925 S 1 0 1 ERC1 SJK esv1717843 12 1101087 1101513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807006 S 2 0 1 ERC1 HuRef esv1676497 12 1101770 1101770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032789 S 2 1 0 ERC1 HuRef esv1170628 12 1101950 1101950 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342231 S 2 1 0 ERC1 HuRef esv1639608 12 1102072 1102072 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711749 S 2 1 0 ERC1 HuRef nsv524525 12 1142624 1236772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700474 S 2026 0 1 ERC1 nsv898582 12 1157102 1286853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573646 S 6533 0 1 ERC1 IS33475 esv26525 12 1174705 1175663 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18830 S 451 1 0 ERC1 NA11993 nsv519502 12 1184691 1236772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700326,nssv656444,nssv660011 M 2026 0 3 ERC1 nsv898583 12 1184691 1377877 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535774 S 6533 1 0 ERC1 MS12466 nsv470257 12 1184691 1384282 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546868 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERC1 HGDP00864 esv2427493 12 1210021 1211546 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214520 S 1 0 1 ERC1 NA18507 nsv819356 12 1235646 1236952 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419232 S 2 1 0 ERC1 AK1 nsv820397 12 1235771 1236701 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420974 S 1 0 1 ERC1 NA10851 nsv826177 12 1235771 1236701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437681,nssv1441383 M 31 0 2 ERC1 NA18949,NA18969 esv24813 12 1235902 1236686 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18156 S 451 32 0 ERC1 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 esv2617836 12 1289389 1289666 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281160 S 1 0 1 ERC1 NA18507 esv267468 12 1306608 1306826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2527925,essv2572866,essv2568602 M 157 3 0 Samples from several populations that are part of the HapMap project. ERC1 NA18907,NA19143,NA19147 dgv256n67 12 1308210 1308917 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826178,nsv826179 M 31 30 0 ERC1 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820884 12 1308210 1308917 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420975 S 1 0 1 ERC1 NA10851 esv7389 12 1308257 1308865 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29830 S 1 0 1 ERC1 SJK esv2487628 12 1344674 1345976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310920 S 1 0 1 ERC1 NA18507 esv2385521 12 1350834 1351171 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774049 S 1 0 1 ERC1 NA18507 nsv520059 12 1380901 1384282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697200 S 2026 0 1 ERC1 nsv573 12 1430428 1474800 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1973 S 9 0 1 ERC1 NA18555 esv1002676 12 1441067 1448371 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564476 S 3 0 1 ERC1 HuRef nsv898584 12 1477651 1653512 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570937 S 6533 1 0 FBXL14,LOC100292680,MIR3649,WNT5B IS32361 nsv898585 12 1482107 1544500 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520749 S 6533 1 0 LOC100292680 SP51237 dgv257n67 12 1484656 1629692 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826180,nsv826181 M 31 2 0 FBXL14,WNT5B NA18969,NA18973 esv22592 12 1509383 1510923 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19190 S 451 0 2 "" NA07045,NA12489 esv2605362 12 1515236 1516260 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299551 S 1 1 0 "" NA18507 esv1000772 12 1515635 1515635 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574250 S 3 1 0 "" HuRef esv1151183 12 1515639 1515639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970764 S 2 1 0 "" HuRef esv2582470 12 1522350 1523294 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173817 S 1 1 0 "" NA18507 nsv470258 12 1540754 1568271 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546869 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBXL14 HGDP01060 esv1766777 12 1553810 1553810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826264 S 2 1 0 FBXL14 HuRef esv1091719 12 1553953 1553953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010904 S 2 1 0 FBXL14 HuRef nsv898586 12 1560401 1604626 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520750 S 6533 1 0 FBXL14,WNT5B SP51237 esv27885 12 1572752 1574666 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18273 S 451 0 1 FBXL14 NA07045 esv2481357 12 1578215 1579514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372738 S 1 0 1 "" NA18507 nsv832304 12 1580510 1738903 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449554,nssv1449550,nssv1449553,nssv1449549,nssv1449552,nssv1449555,nssv1449548,nssv1449556,nssv1449559,nssv1449558,nssv1449557 M 95 11 0 ADIPOR2,MIR3649,WNT5B esv2573124 12 1587461 1588252 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324368 S 1 1 0 "" NA18507 esv2540814 12 1599888 1600461 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291148 S 1 1 0 WNT5B NA18507 nsv513345 12 1601066 1601904 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625737 S 1 1 0 WNT5B 1 nsv898587 12 1602556 1626903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593408 S 6533 0 1 WNT5B IS39417 dgv1340n71 12 1606575 1628004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898589,nsv898590,nsv898588 M 6533 0 4 WNT5B IS30369,IS39233,MS10311,SP54988 nsv898591 12 1615469 1626221 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571523,nssv1549836 M 6533 0 2 WNT5B IS32737,MS18276 nsv527641 12 1619095 1620308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704111 S 2026 0 1 WNT5B nsv523570 12 1620166 1623551 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699352 S 2026 0 1 WNT5B nsv832305 12 1640113 1806315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449560 S 95 1 0 ADIPOR2,CACNA2D4,LRTM2 esv26138 12 1640393 1640933 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10541 S 451 1 0 "" NA18511 esv2921 12 1640462 1640977 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25362 S 1 0 1 Single Asian sample YH "" YH esv1003627 12 1640482 1640701 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576467 S 3 0 1 "" HuRef nsv510285 12 1703904 1709904 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624091,nssv622154,nssv618358,nssv621356 M 4 0 4 ADIPOR2 CHM,NA10860,NA15510,NA18994 nsv832306 12 1717987 1871569 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449561 S 95 0 1 ADIPOR2,CACNA2D4,LRTM2 esv3783 12 1734067 1734812 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26224 S 1 0 1 Single Asian sample YH ADIPOR2 YH nsv53173 12 1734273 1734587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71751 M 24 ADIPOR2 esv2586584 12 1753604 1755032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368803 S 1 0 1 ADIPOR2 NA18507 esv1263717 12 1754352 1754485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952660 S 2 0 1 ADIPOR2 HuRef esv994937 12 1754362 1754494 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569034 S 3 0 1 ADIPOR2 HuRef esv273440 12 1764180 1764514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581350 S 7 1 0 Samples from several populations that are part of the HapMap project. ADIPOR2 NA12878 nsv898592 12 1771746 1808062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570779 S 6533 0 1 CACNA2D4,LRTM2 IS32322 nsv898593 12 1771746 1833020 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572661,nssv1530748 M 6533 0 2 CACNA2D4,LRTM2 IS33162,MS10311 dgv175n27 12 1778114 1803814 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468966,nsv468965 M 1557 0 2 CACNA2D4,LRTM2 HGDP00546,NINDS_173 nsv470259 12 1778114 1815303 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546870 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA2D4,LRTM2 HGDP00657 nsv518013 12 1784534 1823251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695425 S 2026 0 1 CACNA2D4,LRTM2 nsv898594 12 1787099 1823251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592282,nssv1549837 M 6533 0 2 CACNA2D4,LRTM2 IS39233,MS18276 dgv1341n71 12 1787099 1833020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898597,nsv898596,nsv898595 M 6533 0 3 CACNA2D4,LRTM2 MS13770,MS16153,MS17208 nsv524974 12 1807249 1808062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700999 S 2026 0 1 CACNA2D4,LRTM2 nsv523186 12 1807772 1808062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698900 S 2026 0 1 CACNA2D4,LRTM2 nsv898598 12 1809513 2085709 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507235 S 6533 1 0 CACNA1C,CACNA2D4,DCP1B,LOC100271702,LRTM2 SP54509 nsv898599 12 1813013 1859616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553208 S 6533 0 1 CACNA2D4,LRTM2 MS19808 nsv516798 12 1823251 1843645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676374,nssv670983,nssv657858,nssv671606 M 2026 0 4 CACNA2D4 nsv518786 12 1868305 1886583 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696240 S 2026 1 0 CACNA2D4 nsv516230 12 1878809 1879060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660619,nssv666966 M 2026 0 2 CACNA2D4 esv3953 12 1888012 1888415 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26394 S 1 0 1 Single Asian sample YH CACNA2D4 YH esv994355 12 1888125 1888241 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585641 S 3 0 1 CACNA2D4 HuRef nsv53217 12 1888161 1888238 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71795 M 24 CACNA2D4 esv1036258 12 1888194 1888311 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810582 S 2 0 1 CACNA2D4 HuRef nsv898600 12 1890306 1926624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546811 S 6533 0 1 CACNA2D4,DCP1B,LOC100271702 MS17208 esv28167 12 1900990 1901467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21219 S 451 0 1 "" NA15510 esv991822 12 1900990 1901467 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586080 S 3 1 0 "" HuRef nsv521838 12 1930841 2169941 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694611 S 2026 1 0 CACNA1C,DCP1B nsv525455 12 1935631 2005287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701583 S 2026 0 1 DCP1B esv271845 12 1960080 1960165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514518,essv2516389,essv2515749,essv2516027,essv2517745,essv2516176,essv2516843,essv2517276,essv2515199,essv2518237 M 157 10 0 Samples from several populations that are part of the HapMap project. DCP1B NA11840,NA12814,NA12815,NA12873,NA12878,NA12891,NA12892,NA18970,NA19238,NA19240 esv273343 12 1960084 1960287 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582008,essv2582428,essv2582887,essv2583968,essv2583829 M 7 5 0 Samples from several populations that are part of the HapMap project. DCP1B NA12878,NA12891,NA12892,NA19238,NA19240 nsv574 12 1982138 2015237 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1974 S 9 1 0 DCP1B NA18555 dgv1342n71 12 1995216 2094001 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898601,nsv898602 M 6533 2 0 CACNA1C SP53863,SP55966 nsv826182 12 2006656 2078335 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439178 S 31 1 0 CACNA1C NA18973 nsv826183 12 2017730 2128079 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441387 S 31 1 0 CACNA1C NA18969 esv23290 12 2031250 2034420 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18914 S 451 0 2 CACNA1C NA07045,NA12878 nsv826184 12 2031529 2034056 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433100 S 31 1 0 CACNA1C NA18972 nsv826185 12 2053181 2053767 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428740,nssv1436928,nssv1424467 M 31 3 0 CACNA1C NA18542,NA18582,NA18968 nsv898603 12 2078651 2138404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530749 S 6533 0 1 CACNA1C MS10311 esv998408 12 2082530 2089601 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563712 S 3 0 1 CACNA1C HuRef esv27797 12 2084590 2086935 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19310 S 451 0 6 CACNA1C NA07045,NA11993,NA11995,NA12749,NA12878,NA15510 esv1439292 12 2085121 2085440 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095448 S 2 0 1 CACNA1C HuRef esv1009527 12 2085136 2085720 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585530 S 3 0 1 CACNA1C HuRef nsv53850 12 2085354 2085886 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72428 M 24 CACNA1C esv1150716 12 2085481 2085747 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826208 S 2 0 1 CACNA1C HuRef esv1158447 12 2086334 2086334 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111241 S 2 1 0 CACNA1C HuRef dgv25n6 12 2086665 2086796 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv53458,nsv53659 M 24 CACNA1C dgv176n27 12 2097572 2139849 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468968,nsv468967 M 1557 0 2 CACNA1C HGDP00708,HGDP01303 nsv521953 12 2105889 2117440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694722 S 2026 0 1 CACNA1C nsv516496 12 2107103 2138404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655277,nssv671319,nssv684096,nssv659083,nssv668950,nssv689122,nssv674997,nssv678470,nssv683258,nssv652525,nssv692668,nssv669882,nssv676573,nssv677401,nssv692626,nssv678119,nssv690640,nssv676805,nssv655024,nssv673370,nssv652707,nssv691367,nssv664425,nssv690209,nssv664404,nssv687472,nssv686612,nssv691366,nssv652062,nssv656258,nssv690598,nssv675958,nssv655878,nssv688613,nssv693308,nssv675758,nssv674272,nssv679272,nssv688859,nssv673001,nssv682168,nssv653111,nssv691748,nssv663371,nssv663920,nssv661222,nssv693132,nssv662486,nssv693029,nssv653009,nssv676443,nssv653949,nssv658912,nssv679490,nssv666364,nssv656446,nssv688441,nssv693186,nssv688157,nssv662508,nssv675209,nssv677845,nssv702208,nssv692605,nssv693627,nssv685036,nssv653499,nssv657039,nssv686442,nssv691203,nssv670230,nssv673276,nssv664478,nssv676821 M 2026 0 74 CACNA1C dgv1343n71 12 2107103 2198205 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898604,nsv898605 M 6533 0 2 CACNA1C MS16986,MS21225 nsv8889 12 2107696 2128402 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20126,nssv24025,nssv25559,nssv18695,nssv22681,nssv20545,nssv20296,nssv20343,nssv18491,nssv23322,nssv23421,nssv18739,nssv22663,nssv20625,nssv20807,nssv20669,nssv19292,nssv18862,nssv20210,nssv21568,nssv19704,nssv18250,nssv20979,nssv23152,nssv23727,nssv20478,nssv20166,nssv21248 M 31 27 1 Samples from several populations that are part of the HapMap project. CACNA1C NA07029,NA07048,NA10847,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv258n67 12 2109351 2128242 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826188,nsv826186 M 31 0 3 CACNA1C AK20,NA18951,NA18969 nsv821362 12 2109351 2128242 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420976 S 1 0 1 CACNA1C NA10851 nsv508663 12 2109710 2137235 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617395 S 4 0 1 CACNA1C CHM nsv819825 12 2112717 2128109 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418653 S 2 1 0 CACNA1C AK1 dgv259n67 12 2115733 2128079 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826191,nsv826189,nsv826193,nsv826190,nsv826192 M 31 0 22 CACNA1C AK10,AK12,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18968,NA18972,NA18997,NA18999 esv29907 12 2115759 2128242 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15417 S 451 36 0 CACNA1C NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv818879 12 2115897 2120329 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415589,nssv1415590,nssv1416266,nssv1418098,nssv1416265 M 112 0 5 CACNA1C NA10830,NA10851,NA11881,NA12057,NA12236 dgv177n27 12 2115897 2121534 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468969,nsv468970,nsv468971 M 1557 0 3 CACNA1C 1780862419_A,HGDP00277,NINDS_271 esv2422127 12 2115897 2128667 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091646,essv5002238,essv5146891,essv5095045,essv5136998,essv5033783,essv5057412,essv5154678,essv5133680,essv5030697,essv5156240,essv5141492,essv5107849,essv5038724,essv5046908,essv5131325,essv5141707,essv5130474,essv5003045,essv5081693,essv5024745,essv5107306,essv5052062,essv5006954,essv5155925,essv5077058,essv5059826,essv5108591,essv5061794,essv5159258,essv5021860,essv5101210,essv5040689,essv5015030,essv5047403,essv5150204,essv5033822,essv5160005,essv5023464,essv5108115,essv5083817,essv5060156 M 1184 0 42 CACNA1C NA07022,NA10830,NA10835,NA10839,NA10852,NA10853,NA10856,NA11830,NA11881,NA12003,NA12006,NA12057,NA12249,NA12275,NA12344,NA12347,NA12348,NA12375,NA12383,NA12413,NA12864,NA12872,NA12877,NA12889,NA18602,NA19649,NA19663,NA19676,NA19681,NA19682,NA19683,NA19726,NA19746,NA19747,NA19748,NA19788,NA19790,NA20348,NA20504,NA20882,NA21089,NA21108 nsv468973 12 2115897 2155992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543998 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA1C HGDP00315 nsv442629 12 2116123 2128667 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CACNA1C nsv514658 12 2116157 2128302 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628129 S 1414 0 1 CACNA1C nsv438187 12 2117440 2125588 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470337 S 269 0 1 Samples from several populations that are part of the HapMap project. CACNA1C NA12872 nsv513346 12 2194007 2194203 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625738 S 1 1 0 CACNA1C 1 nsv575 12 2205902 2250044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4004,nssv1054,nssv1975,nssv6486,nssv10848,nssv10898,nssv5392 M 9 7 0 CACNA1C NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv509449 12 2205916 2258098 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620922,nssv619524,nssv623583 M 4 3 0 CACNA1C NA10860,NA15510,NA18994 nsv76 12 2229492 2241937 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv76 S 1 1 0 CACNA1C NA15510 esv1000811 12 2235109 2236636 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564249 S 3 1 0 CACNA1C HuRef nsv53170 12 2235409 2235409 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71748 M 24 CACNA1C esv1308691 12 2235459 2235459 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223724 S 2 1 0 CACNA1C HuRef esv2476778 12 2235480 2236184 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230607 S 1 1 0 CACNA1C NA18507 esv1572229 12 2235494 2235494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913078 S 2 1 0 CACNA1C HuRef nsv524111 12 2308366 2311723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699989 S 2026 0 1 CACNA1C nsv832307 12 2328212 2518033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449563 S 95 1 0 CACNA1C nsv507627 12 2341356 2347356 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619062,nssv617825 M 4 2 0 CACNA1C CHM,NA10860 esv24119 12 2386687 2387172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12535 S 451 0 1 CACNA1C NA12776 nsv898606 12 2388613 2499072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581005 S 6533 1 0 CACNA1C IS35486 nsv526182 12 2432802 2439719 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702444 S 2026 1 0 CACNA1C nsv509450 12 2437439 2552887 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619528,nssv623586 M 4 2 0 CACNA1C NA10860,NA18994 esv8409 12 2441671 2441765 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30850 S 1 1 0 CACNA1C SJK nsv52683 12 2441780 2441780 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71261 M 24 CACNA1C nsv576 12 2487688 2522667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4005 S 9 1 0 CACNA1C NA12878 esv1578304 12 2499880 2500084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172132 S 2 0 1 CACNA1C HuRef esv21449 12 2518640 2519375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20654 S 451 0 2 CACNA1C NA07037,NA12287 esv2485224 12 2525398 2526542 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5394340 S 1 1 0 CACNA1C NA18507 nsv578 12 2532561 2554286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8987 S 9 1 0 CACNA1C NA12156 nsv832308 12 2555989 2669489 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449564 S 95 0 1 CACNA1C nsv53150 12 2646677 2646677 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71728 M 24 CACNA1C dgv1344n71 12 2661391 2722510 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898608,nsv898607 M 6533 5 0 CACNA1C IS39022,MS11019,MS14247,MS26019,SP52064 esv9177 12 2674645 2722853 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31618 S 1 0 1 CACNA1C SJK nsv898609 12 2675893 2711853 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503937 S 6533 1 0 CACNA1C SP52131 dgv19n68 12 2705497 2914865 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832309,nsv832310 M 95 0 4 C12orf32,FKBP4,FOXM1,ITFG2,LOC100507424,LOC283440,NRIP2,TULP3 nsv470260 12 2722510 2761734 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546871 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283440 HGDP01201 nsv53097 12 2725237 2725237 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71675 M 24 "" esv25528 12 2738504 2741289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11968 S 451 0 1 LOC283440 NA18505 esv1983049 12 2747719 2748074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899090 S 1 0 1 LOC283440 NA18507 esv997004 12 2747807 2747807 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585050 S 3 1 0 LOC283440 HuRef esv1502269 12 2747852 2747852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723268 S 2 1 0 LOC283440 HuRef esv1495898 12 2747922 2747922 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850239 S 2 1 0 LOC283440 HuRef nsv826194 12 2756786 2796612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439179 S 31 1 0 FKBP4,ITFG2 NA18973 nsv826195 12 2772433 2776327 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433102 S 31 1 0 FKBP4 NA18972 esv26689 12 2773689 2775772 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19069 S 451 0 1 FKBP4 NA07045 nsv832311 12 2789771 2975966 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449569 S 95 0 1 C12orf32,FOXM1,ITFG2,LOC100507424,NRIP2,TEAD4,TULP3 esv2546604 12 2822651 2824246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388149 S 1 0 1 LOC100507424 NA18507 esv2077692 12 2822996 2823752 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990741 S 1 0 1 LOC100507424 NA18507 esv8620 12 2823166 2823623 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31061 S 1 0 1 LOC100507424 SJK nsv516944 12 2857835 2858205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685037,nssv653479 M 2026 0 2 C12orf32 esv2648236 12 2891139 2891192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389843 S 1 0 1 TULP3 NA18507 nsv470261 12 2901619 2955954 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546872 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TEAD4,TULP3 HGDP00546 nsv579 12 2919369 2925875 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5393 S 9 1 0 TULP3 NA19129 esv2091386 12 2933774 2934352 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550527 S 1 0 1 "" NA18507 nsv468974 12 2951881 2959821 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543999 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TEAD4 HGDP00628 nsv528500 12 2951881 2959821 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705105 S 2026 0 1 TEAD4 esv275406 12 2955954 2966159 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585942,essv2585412 M 1250 1 1 TEAD4 nsv898610 12 2972707 3011240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592283 S 6533 0 1 TEAD4 IS39233 dgv1345n71 12 2972707 3063288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898612,nsv898611 M 6533 0 2 TEAD4,TSPAN9 MS10311,MS16153 nsv523615 12 2989074 2994413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699411 S 2026 0 1 TEAD4 nsv468975 12 2996301 3020435 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544000 S 1557 0 1 TEAD4 NINDS_69 nsv898613 12 2996301 3037762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572662 S 6533 0 1 TEAD4 IS33162 esv2207209 12 3022658 3023083 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688794 S 1 0 1 "" NA18507 esv1628800 12 3074833 3074962 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252842 S 2 0 1 TSPAN9 HuRef esv1000555 12 3108001 3114719 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565498 S 3 0 1 TSPAN9 HuRef nsv527090 12 3110556 3125623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703469 S 2026 0 1 TSPAN9 nsv528150 12 3110695 3113053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704697 S 2026 0 1 TSPAN9 nsv832312 12 3112432 3337461 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449570 S 95 0 1 TSPAN9 nsv468976 12 3115851 3125623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544001 S 1557 0 1 TSPAN9 NINDS_111 nsv468977 12 3134767 3162729 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544002 S 1557 0 1 TSPAN9 1780862226_A nsv8890 12 3174811 3178358 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20655 S 31 0 1 Samples from several populations that are part of the HapMap project. TSPAN9 NA18537 nsv821465 12 3176887 3178567 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420977 S 1 0 1 TSPAN9 NA10851 esv29653 12 3176887 3180679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20545,esv20130 M 451 0 3 TSPAN9 NA07045,NA11931,NA12878 esv4288 12 3177072 3178481 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26729 S 1 0 1 Single Asian sample YH TSPAN9 YH nsv53179 12 3177190 3178314 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71757 M 24 TSPAN9 esv8687 12 3177770 3178332 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31128 S 1 0 1 TSPAN9 SJK esv1080066 12 3178134 3178134 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787719 S 2 1 0 TSPAN9 HuRef esv1506846 12 3178277 3178277 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198224 S 2 1 0 TSPAN9 HuRef nsv468978 12 3198066 3226495 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544003 S 1557 0 1 TSPAN9 NINDS_14 nsv516931 12 3224123 3226495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675629,nssv655025 M 2026 0 2 TSPAN9 nsv526531 12 3224123 3264359 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702844 S 2026 0 1 TSPAN9 nsv898614 12 3241953 3269690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530751 S 6533 0 1 TSPAN9 MS10311 nsv527091 12 3244936 3257275 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703470 S 2026 0 1 TSPAN9 esv27287 12 3247570 3249305 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17427 S 451 4 0 TSPAN9 NA18502,NA18523,NA19147,NA19240 nsv821042 12 3247570 3249305 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420978 S 1 0 1 TSPAN9 NA10851 nsv8892 12 3260491 3263497 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23350 S 31 0 1 Samples from several populations that are part of the HapMap project. TSPAN9 NA18517 esv274866 12 3297087 3298689 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585854 S 1250 0 1 "" esv1070043 12 3298099 3298099 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103441 S 2 1 0 "" HuRef nsv898615 12 3341527 3441893 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549552 S 6533 1 0 "" MS18263 nsv580 12 3410281 3450455 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8988,nssv5394 M 9 2 0 "" NA12156,NA19129 esv28881 12 3441088 3442439 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13082 S 451 0 1 "" NA19099 nsv581 12 3477270 3519653 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8989 S 9 0 1 PRMT8 NA12156 esv2293557 12 3535097 3535580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689098 S 1 0 1 PRMT8 NA18507 esv3874 12 3535202 3535523 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26315 S 1 0 1 Single Asian sample YH PRMT8 YH nsv468980 12 3548512 3568100 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544004 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRMT8 HGDP00976 nsv468981 12 3556024 3968769 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544005 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFCAB4B,PARP11,PRMT8 HGDP01312 nsv582 12 3576257 3607066 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4007 S 9 1 0 EFCAB4B NA12878 nsv528921 12 3576629 3582345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705609 S 2026 0 1 "" esv24018 12 3656692 3658809 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15873 S 451 0 1 EFCAB4B NA19240 nsv832313 12 3668989 3886200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449571 S 95 0 1 EFCAB4B,PARP11 esv28003 12 3733172 3733711 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14154 S 451 0 4 "" NA07037,NA12878,NA18502,NA18511 esv1335055 12 3747806 3747806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723620 S 2 1 0 "" HuRef nsv832316 12 3851445 4050642 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449572 S 95 1 0 PARP11 esv2425575 12 3913139 3915597 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271372 S 1 0 1 "" NA18507 esv2030944 12 3913735 3915163 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832649 S 1 0 1 "" NA18507 esv28246 12 3914181 3914947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17679 S 451 0 3 "" NA12006,NA18511,NA19225 nsv518170 12 3914737 3918505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695591 S 2026 0 1 "" nsv524675 12 3945121 3948346 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700646 S 2026 0 1 "" nsv583 12 3953572 3973316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4008 S 9 1 0 "" NA12878 nsv438188 12 3957146 3958803 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470340,nssv470339,nssv470338,nssv470342 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18547,NA18576,NA18592,NA18976 esv8709 12 3961685 3961780 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31150 S 1 1 0 "" SJK esv29097 12 3978232 3980238 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13469 S 451 1 0 "" NA11995 nsv584 12 4025135 4059370 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8990 S 9 1 0 "" NA12156 nsv832317 12 4185559 4305876 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449574 S 95 1 0 C12orf5,CCND2 nsv442251 12 4213627 4218670 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv520791 12 4230850 4244189 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694401 S 2026 0 1 "" esv275173 12 4255853 4256482 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585473,essv2585296 M 1250 1 1 CCND2 esv275292 12 4258793 4259598 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586142 S 1250 0 1 CCND2 dgv260n67 12 4258957 4259474 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826199,nsv826196,nsv826197 M 31 0 5 CCND2 AK16,NA18542,NA18547,NA18947,NA18972 nsv437722 12 4261593 4267007 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467603 S 60 0 1 Samples from several populations that are part of the HapMap project. CCND2 NA19173 nsv468984 12 4269348 4282065 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544007 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCND2 HGDP01191 nsv468985 12 4293873 4343590 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544008 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C12orf5 HGDP00565 esv275025 12 4311966 4332766 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585239,essv2585483 M 1250 1 1 C12orf5 nsv519278 12 4312167 4345455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696762 S 2026 0 1 C12orf5 nsv528492 12 4332422 4343590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705097 S 2026 0 1 C12orf5 nsv523578 12 4332766 4338182 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699364 S 2026 0 1 C12orf5 nsv898616 12 4360320 4434874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523146 S 6533 1 0 FGF6 SP53705 nsv585 12 4384510 4429503 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8991 S 9 0 1 FGF6 NA12156 esv33276 12 4423477 4425254 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94727,essv95475 M 51 2 0 FGF6 21791,21847 nsv586 12 4466320 4499793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1055 S 9 1 0 C12orf4 NA19240 nsv832318 12 4526060 4746098 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449575 S 95 1 0 AKAP3,DYRK4,GALNT8,NDUFA9,RAD51AP1 dgv88n21 12 4558895 4561943 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526830,nsv522586 M 2026 0 2 "" nsv7226 12 4583103 4606264 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1056 S 9 0 0 AKAP3,DYRK4 NA19240 dgv1346n71 12 4585343 4638880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898618,nsv898617 M 6533 0 2 AKAP3,DYRK4,NDUFA9 IS37698,MS21397 nsv468986 12 4596329 4622059 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544009 S 1557 0 1 AKAP3 1780854545_A dgv1347n71 12 4607976 4641717 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898619,nsv898620 M 6533 0 5 AKAP3,NDUFA9 MS19630,MS21100,MS22619,MS23025,MS24073 nsv826200 12 4611136 4613163 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436095,nssv1429317,nssv1427737 M 31 3 0 AKAP3 AK12,AK8,NA18566 esv1007580 12 4612427 4613475 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565616 S 3 1 0 AKAP3 HuRef esv267844 12 4613144 4613229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514084,essv2514209,essv2515811 M 157 3 0 Samples from several populations that are part of the HapMap project. AKAP3 NA12043,NA12874,NA18969 nsv587 12 4615673 4649899 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8992 S 9 1 0 AKAP3,NDUFA9 NA12156 dgv1348n71 12 4622059 4641717 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898622,nsv898623,nsv898621 M 6533 0 10 AKAP3,NDUFA9 IS30363,IS33738,MS10441,MS10544,MS15491,MS16361,MS20857,MS20947,MS23340,MS25617 dgv1349n71 12 4627735 4641943 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898624,nsv898625 M 6533 0 2 NDUFA9 IS41196,MS25396 esv269735 12 4641117 4641442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557870,essv2576057,essv2521388,essv2542450,essv2543802,essv2570782,essv2568394,essv2577624,essv2570473,essv2576714,essv2550548,essv2550317,essv2535348,essv2554004,essv2544528,essv2520337,essv2578100,essv2553688,essv2559731,essv2576335,essv2519948,essv2537421,essv2528374,essv2539959,essv2520890,essv2557320,essv2556857,essv2552578,essv2551759,essv2562795,essv2578693,essv2537049,essv2569702,essv2527054,essv2544627,essv2541265,essv2538460,essv2542902,essv2540555,essv2561242,essv2519632,essv2521928,essv2566151,essv2567901,essv2570125,essv2572302,essv2566916,essv2543735,essv2528134,essv2562491,essv2539308,essv2555317,essv2533597,essv2566456,essv2556024,essv2543076,essv2529830,essv2538651,essv2574642,essv2549855,essv2571530,essv2545880,essv2574151,essv2548672,essv2532991,essv2547712 M 157 66 0 Samples from several populations that are part of the HapMap project. NDUFA9 NA07037,NA07051,NA07347,NA10851,NA11830,NA11894,NA11919,NA11992,NA11993,NA11995,NA12043,NA12044,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12761,NA12763,NA12776,NA12814,NA12815,NA12878,NA12891,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18510,NA18517,NA18520,NA18522,NA18526,NA18545,NA18547,NA18550,NA18552,NA18562,NA18566,NA18571,NA18572,NA18577,NA18593,NA18609,NA18853,NA18870,NA18907,NA18909,NA18912,NA18943,NA18944,NA18948,NA18956,NA18965,NA19093,NA19108,NA19138,NA19225,NA19238,NA19239,NA19240 esv273803 12 4641117 4641442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581881,essv2582553,essv2584116,essv2584511,essv2583754 M 7 5 0 Samples from several populations that are part of the HapMap project. NDUFA9 NA12878,NA12891,NA19238,NA19239,NA19240 nsv589 12 4682951 4716525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1057 S 9 1 0 GALNT8 NA19240 esv272109 12 4686788 4686958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506787 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 nsv525579 12 4687151 4693176 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701718 S 2026 1 0 "" esv272167 12 4714068 4714300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579348 S 7 1 0 Samples from several populations that are part of the HapMap project. GALNT8 NA19239 esv267780 12 4765085 4765403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513661 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv819008 12 4790939 4791284 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418804 S 2 0 1 KCNA6 AK1 nsv520570 12 4800048 4824852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697493 S 2026 0 1 KCNA6 nsv523628 12 4886654 4892699 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699426 S 2026 1 0 KCNA1 esv1000587 12 4950417 4953827 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565826 S 3 0 1 "" HuRef esv2606872 12 4952051 4954202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343387 S 1 0 1 "" NA18507 nsv512248 12 4952144 4953410 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624820 S 1 0 1 "" 1 esv27713 12 4952405 4953471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19876 S 451 0 5 "" NA07037,NA07045,NA11995,NA12489,NA12776 nsv821149 12 4952405 4953471 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420979 S 1 0 1 "" NA10851 esv1227595 12 4952865 4953029 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926327 S 2 0 1 "" HuRef esv1262646 12 4953180 4953385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820059 S 2 0 1 "" HuRef nsv898626 12 4996724 5026839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536951 S 6533 0 1 KCNA5 MS13030 nsv525373 12 5020020 5020463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701494 S 2026 0 1 "" nsv517406 12 5023408 5026839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692240,nssv666746,nssv652924,nssv684563,nssv692833,nssv683275,nssv664608,nssv693739,nssv657685,nssv685114,nssv651930,nssv667422,nssv654495,nssv691058,nssv689450,nssv662856 M 2026 0 16 KCNA5 esv270796 12 5065239 5065356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510548,essv2509749,essv2506103,essv2513291,essv2498670,essv2493848 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18523,NA18907,NA19138,NA19210 esv2439202 12 5091352 5094278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367057 S 1 0 1 "" NA18507 esv2315609 12 5091885 5093900 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4534924 S 1 0 1 "" NA18507 dgv261n67 12 5092118 5093801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826201,nsv826202 M 31 0 12 "" AK10,AK12,AK16,AK20,AK8,NA18537,NA18552,NA18592,NA18947,NA18969,NA18972,NA18999 nsv821358 12 5092118 5093801 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420981 S 1 0 1 "" NA10851 esv22063 12 5092135 5093690 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18053 S 451 30 1 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv819193 12 5092147 5093882 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419318 S 2 1 0 "" AK1 nsv528035 12 5111233 5111646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704567 S 2026 0 1 "" nsv520231 12 5113800 5115044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662040,nssv679580,nssv684640 M 2026 0 3 "" nsv590 12 5136809 5191381 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8994,nssv8993 M 9 0 1 "" NA12156 esv2258430 12 5140076 5140514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507407 S 1 0 1 "" NA18507 esv3637 12 5191285 5191832 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26078 S 1 0 1 Single Asian sample YH "" YH esv1011318 12 5191493 5191646 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568410 S 3 0 1 "" HuRef nsv832319 12 5200005 5384129 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449577,nssv1449576 M 95 2 0 "" nsv591 12 5247928 5282289 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8995 S 9 0 1 "" NA12156 nsv470262 12 5392817 6113877 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546873 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANO2,NTF3,VWF HGDP01276 nsv468988 12 5392817 6120948 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544010 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANO2,NTF3,VWF HGDP01276 nsv523152 12 5408373 5568320 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698860 S 2026 1 0 ANO2,NTF3 nsv592 12 5419550 5424265 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5395 S 9 1 0 NTF3 NA19129 nsv524170 12 5457413 5489075 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700050 S 2026 1 0 NTF3 esv2559368 12 5460438 5461143 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284939 S 1 1 0 NTF3 NA18507 nsv513347 12 5460601 5461261 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625739 S 1 1 0 NTF3 1 nsv898627 12 5467642 5892756 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566571 S 6533 1 0 ANO2,NTF3 IS30781 esv268253 12 5579468 5579666 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515870 S 157 1 0 Samples from several populations that are part of the HapMap project. ANO2 NA12873 esv2585557 12 5617488 5618405 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205809 S 1 1 0 ANO2 NA18507 esv273463 12 5639830 5640159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581989,essv2582329 M 7 2 0 Samples from several populations that are part of the HapMap project. ANO2 NA12878,NA12891 esv269170 12 5639836 5640163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575818,essv2540790,essv2546176,essv2525853,essv2568347,essv2545541,essv2577428,essv2548574,essv2550616,essv2550419,essv2554264,essv2551996,essv2547611,essv2529381,essv2558677,essv2577732,essv2559708,essv2519963,essv2554850,essv2561877,essv2537626,essv2528635,essv2557158,essv2552694,essv2551846,essv2532223,essv2569601,essv2578726,essv2537030,essv2561737,essv2559244,essv2542181,essv2569160,essv2543557,essv2556347,essv2528082,essv2562227,essv2534126,essv2527720,essv2576985,essv2529665,essv2575699,essv2575120,essv2538720,essv2572809,essv2568786,essv2560249,essv2536221,essv2537769,essv2533278,essv2547826,essv2563546 M 157 52 0 Samples from several populations that are part of the HapMap project. ANO2 NA06986,NA07000,NA07051,NA07347,NA10847,NA11830,NA11831,NA11881,NA11918,NA11995,NA12003,NA12043,NA12045,NA12155,NA12234,NA12287,NA12489,NA12717,NA12749,NA12750,NA12761,NA12776,NA12815,NA12872,NA12874,NA12878,NA12891,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18523,NA18638,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18952,NA18970,NA19093,NA19099,NA19102,NA19108,NA19143,NA19147,NA19190 esv26915 12 5639894 5658536 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20359 S 451 8 0 ANO2 NA07037,NA15510,NA18502,NA18861,NA18909,NA19147,NA19225,NA19240 nsv826203 12 5649132 5654836 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428763 S 31 1 0 ANO2 NA18968 esv1010714 12 5649132 5655048 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586854 S 3 0 1 ANO2 HuRef nsv528886 12 5741110 5742820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705568 S 2026 0 1 ANO2 esv267629 12 5773244 5773521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515773 S 157 1 0 Samples from several populations that are part of the HapMap project. ANO2 NA12815 nsv507628 12 5868610 5874610 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620456,nssv619063,nssv617826 M 4 3 0 ANO2 CHM,NA10860,NA15510 nsv521492 12 5879856 5905569 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698103 S 2026 0 1 ANO2 nsv517527 12 5896615 5905569 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687929,nssv666095,nssv666510,nssv665579,nssv652278 M 2026 0 5 ANO2 esv1098801 12 5902528 5902528 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743584 S 2 1 0 ANO2 HuRef esv1061937 12 5902590 5902590 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268980 S 2 1 0 ANO2 HuRef esv1270499 12 5902683 5902683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066300 S 2 1 0 ANO2 HuRef nsv53042 12 5902701 5902701 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71620 M 24 ANO2 esv22765 12 5907687 5912252 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20838,esv19682,esv10191 M 451 2 15 ANO2 NA07037,NA07045,NA11931,NA11993,NA11995,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA18511,NA19108,NA19114,NA19147,NA19240 esv8531 12 5907958 5909037 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30972 S 1 0 1 ANO2 SJK esv1647797 12 5908498 5909082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037180 S 2 0 1 ANO2 HuRef nsv898628 12 5911443 6053442 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566572 S 6533 1 0 ANO2,VWF IS30781 nsv521996 12 5915522 5927337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694117 S 2026 0 1 ANO2 esv269412 12 5937033 5937146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496833,essv2511720,essv2493170,essv2504318,essv2493673,essv2494754,essv2505993,essv2505166,essv2513525,essv2504690,essv2493551,essv2510446,essv2499759 M 157 13 0 Samples from several populations that are part of the HapMap project. VWF NA18498,NA18499,NA18504,NA18505,NA18517,NA18519,NA18523,NA18853,NA18907,NA19099,NA19137,NA19172,NA19225 esv2549788 12 6012313 6012413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169543 S 1 0 1 VWF NA18507 esv26513 12 6016779 6018578 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10747 S 451 1 0 VWF NA19147 dgv1350n71 12 6026738 6108740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898629,nsv898630 M 6533 0 2 VWF SP54043,SP54846 nsv509451 12 6072235 6165141 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623591 S 4 1 0 VWF NA18994 nsv898631 12 6073079 6172270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585951 S 6533 0 1 VWF IS37646 nsv832320 12 6094393 6298383 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449578 S 95 0 1 CD9,PLEKHG6,VWF nsv516183 12 6108740 6113877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666668,nssv689483 M 2026 0 2 "" nsv437134 12 6108740 6125686 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467015 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv437136 12 6108740 6134080 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467017 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10851 dgv1351n71 12 6108740 6200056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898633,nsv898632 M 6533 0 2 CD9 MS10311,MS16808 esv1005794 12 6109458 6119520 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563958 S 3 0 1 "" HuRef nsv8893 12 6110241 6118561 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20196,nssv21598,nssv20699,nssv18280,nssv23180,nssv20240,nssv20373,nssv20685,nssv18892,nssv20837,nssv20434,nssv19734,nssv20575,nssv18799,nssv18725,nssv22710,nssv20156,nssv21187,nssv20508,nssv24052,nssv21278,nssv19322,nssv25582,nssv23408,nssv23754,nssv23449,nssv22692 M 31 27 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv262n67 12 6111414 6116320 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826204,nsv826205 M 31 2 0 "" NA18542,NA18973 nsv821101 12 6111414 6118428 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420982 S 1 0 1 "" NA10851 nsv826206 12 6111625 6118428 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428556 S 31 1 0 "" AK10 nsv826207 12 6112289 6118391 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426036,nssv1432328,nssv1427739,nssv1429320 M 31 0 4 "" AK12,AK20,AK4,AK8 esv24875 12 6112654 6118295 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14055 S 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv819993 12 6113542 6117788 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419620 S 2 1 0 "" AK1 nsv438189 12 6113877 6116707 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470346,nssv470344,nssv470343,nssv470345 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10851,NA12056,NA12740,NA12750 esv993762 12 6115193 6117764 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586874 S 3 0 1 "" HuRef nsv832321 12 6120040 6220924 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449579,nssv1449580,nssv1449581 M 95 1 2 CD9 nsv511497 12 6120948 6134080 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626115 S 1 0 1 "" 1 nsv512249 12 6124771 6131312 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624823 S 1 0 1 "" 1 esv24645 12 6125687 6130823 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16272 S 451 0 2 "" NA11894,NA12006 nsv522028 12 6134080 6141364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694798 S 2026 0 1 "" nsv818880 12 6159369 6178784 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415690 S 112 1 0 "" NA12248 nsv52620 12 6160514 6160602 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71198 M 24 "" esv23044 12 6162715 6166205 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12160,esv11675 M 451 5 0 "" NA12006,NA12776,NA12878,NA18858,NA18916 nsv470263 12 6190646 6216045 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546874 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD9 HGDP00451 esv26960 12 6269315 6271172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14619 S 451 0 11 "" NA12156,NA12878,NA15510,NA18502,NA18505,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099 esv2556970 12 6269348 6271106 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340043 S 1 0 1 "" NA18507 nsv53369 12 6270241 6270431 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71947 M 24 "" nsv53368 12 6270830 6271076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71946 M 24 "" nsv513348 12 6284883 6285045 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625740 S 1 1 0 "" 1 esv1256624 12 6284946 6284946 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695013 S 2 1 0 "" HuRef esv34325 12 6321851 6492610 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980430,essv6980431,essv6980432 M 771 1 0 CD27,LOC678655,LTBR,MRPL51,NCAPD2,SCARNA10,SCNN1A,TAPBPL,VAMP1 NA19173 dgv453e1 12 6324145 6534096 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11538,essv16371,esv798 M 271 0 0 CD27,GAPDH,IFFO1,LOC678655,LTBR,MRPL51,NCAPD2,SCARNA10,SCNN1A,TAPBPL,VAMP1 NA19172,NA19173 esv2479244 12 6341931 6342572 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380098 S 1 1 0 SCNN1A NA18507 nsv512250 12 6376076 6378378 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624824 S 1 0 1 "" 1 esv2499527 12 6376280 6379519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178532 S 1 0 1 "" NA18507 esv29632 12 6376809 6378245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20224 S 451 0 1 "" NA18508 nsv513349 12 6381693 6383115 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625741 S 1 1 0 "" 1 esv2596137 12 6382552 6383251 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171772 S 1 1 0 "" NA18507 esv1397088 12 6383006 6383006 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016267 S 2 1 0 "" HuRef esv34390 12 6398330 6492610 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990479,essv6980426,essv6980427 M 771 1 0 CD27,LOC678655,MRPL51,NCAPD2,SCARNA10,TAPBPL,VAMP1 NA19172 essv12131 12 6403986 6506653 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CD27,LOC678655,MRPL51,NCAPD2,SCARNA10,TAPBPL,VAMP1 NA19173 nsv818881 12 6404915 6450637 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416591,nssv1416592 M 112 2 0 CD27,LOC678655,TAPBPL,VAMP1 NA19172,NA19173 nsv442252 12 6407756 6453667 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CD27,LOC678655,TAPBPL,VAMP1 esv1145226 12 6408562 6408934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200677 S 2 0 1 "" HuRef nsv8894 12 6409530 6455801 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20729 S 31 1 0 Samples from several populations that are part of the HapMap project. CD27,LOC678655,TAPBPL,VAMP1 NA19173 nsv525022 12 6434471 6472004 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701061 S 2026 1 0 MRPL51,TAPBPL,VAMP1 esv2407117 12 6473569 6473980 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604309 S 1 0 1 NCAPD2 NA18507 nsv8895 12 6482612 6495144 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20789 S 31 1 0 Samples from several populations that are part of the HapMap project. NCAPD2,SCARNA10 NA19173 nsv819436 12 6500456 6502156 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419308 S 2 0 1 NCAPD2 AK1 nsv826208 12 6512745 6516092 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433105 S 31 1 0 GAPDH NA18972 nsv8896 12 6515512 6517508 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23477 S 31 1 0 Samples from several populations that are part of the HapMap project. GAPDH NA19132 nsv898634 12 6519041 6545316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510040 S 6533 0 1 IFFO1,NOP2 SP54956 nsv826210 12 6541290 6591737 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441390 S 31 1 0 CHD4,NOP2,SCARNA11 NA18969 nsv509452 12 6546362 6633054 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620928 S 4 1 0 ACRBP,CHD4,ING4,LPAR5,NOP2,SCARNA11 NA15510 esv1065323 12 6551332 6551797 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960931 S 2 0 1 CHD4 HuRef nsv832322 12 6555311 6745341 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449582 S 95 0 1 ACRBP,C12orf53,CHD4,COPS7A,ING4,LPAR5,MLF2,SCARNA11,ZNF384 nsv826211 12 6557849 6572124 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439181 S 31 1 0 CHD4,SCARNA11 NA18973 esv2027881 12 6558325 6558697 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771229 S 1 0 1 CHD4 NA18507 esv28601 12 6592805 6593609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18888 S 451 0 1 "" NA18505 nsv898635 12 6617556 6754505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530753 S 6533 0 1 ACRBP,C12orf53,COPS7A,ING4,LAG3,MLF2,PTMS,ZNF384 MS10311 nsv832323 12 6641660 6835984 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449583 S 95 0 1 C12orf53,CD4,CDCA3,COPS7A,GNB3,GPR162,ING4,LAG3,LEPREL2,MLF2,PTMS,USP5,ZNF384 nsv53563 12 6702142 6702142 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72141 M 24 "" nsv525884 12 6703365 6706312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702085 S 2026 0 1 COPS7A nsv524621 12 6703365 6722708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700582 S 2026 0 1 COPS7A dgv1352n71 12 6742773 6757141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898637,nsv898636 M 6533 0 2 LAG3,PTMS SP54725,SP54956 esv27720 12 6745501 6747432 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18941 S 451 0 2 PTMS NA11995,NA19190 nsv593 12 6756414 6801084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8996 S 9 0 1 CD4,LAG3 NA12156 nsv832324 12 6759724 6911730 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449585,nssv1449586 M 95 0 2 ATN1,CD4,CDCA3,DSTNP2,ENO2,GNB3,GPR162,LEPREL2,LRRC23,RPL13P5,SPSB2,TPI1,USP5 nsv52513 12 6777645 6777900 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71091 M 24 CD4 nsv898638 12 6799898 6825125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584830 S 6533 0 1 CD4,GNB3,GPR162,LEPREL2 IS37172 dgv1353n71 12 6799898 6877265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898640,nsv898639 M 6533 0 2 CD4,CDCA3,DSTNP2,GNB3,GPR162,LEPREL2,RPL13P5,SPSB2,TPI1,USP5 MS16153,MS18276 nsv898641 12 6811282 6955432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530754 S 6533 0 1 ATN1,C12orf57,CDCA3,DSTNP2,EMG1,ENO2,GNB3,LEPREL2,LRRC23,MIR141,MIR200C,PHB2,PTPN6,RPL13P5,SCARNA12,SPSB2,TPI1,USP5 MS10311 nsv516726 12 6818289 6819143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662011,nssv692932,nssv657250,nssv678064,nssv678046,nssv670467,nssv685869,nssv687930,nssv680013,nssv686614,nssv692959,nssv670711,nssv693490 M 2026 0 13 LEPREL2 nsv526312 12 6818729 6819160 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702596 S 2026 0 1 LEPREL2 nsv898642 12 6836001 6923410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592284 S 6533 0 1 ATN1,DSTNP2,ENO2,LRRC23,RPL13P5,SPSB2,TPI1,USP5 IS39233 nsv819916 12 6872481 6884159 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418616 S 2 0 1 LRRC23 AK1 nsv513350 12 6872706 6873241 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625742 S 1 1 0 "" 1 nsv509453 12 6875955 6985418 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620935 S 4 1 0 ATN1,C12orf57,EMG1,ENO2,LPCAT3,LRRC23,MIR141,MIR200C,PHB2,PTPN6,SCARNA12 NA15510 nsv819094 12 6885393 6889400 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419600 S 2 0 1 LRRC23 AK1 nsv826212 12 6906592 6908137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433106 S 31 1 0 ATN1 NA18972 esv5830 12 6924634 6924696 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28271 S 1 1 0 C12orf57 SJK nsv513351 12 6929361 6929588 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625743 S 1 1 0 PTPN6 1 esv994245 12 6929407 6930151 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563911 S 3 1 0 PTPN6 HuRef nsv513352 12 6964437 6965177 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625744 S 1 1 0 LPCAT3 1 esv1188372 12 6965051 6965051 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882996 S 2 1 0 LPCAT3 HuRef esv2579054 12 6977939 6978675 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237370 S 1 1 0 LPCAT3 NA18507 nsv513353 12 6977950 6978995 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625746 S 1 1 0 LPCAT3 1 nsv818882 12 7172584 7193249 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415691 S 112 1 0 CLSTN3,RBP5 NA12248 esv2378802 12 7172739 7173159 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808353 S 1 0 1 "" NA18507 nsv832325 12 7185271 7360779 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449587,nssv1449588 M 95 1 1 ACSM4,CLSTN3,PEX5 esv28301 12 7240011 7241269 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15445 S 451 2 0 PEX5 NA11995,NA18858 nsv821591 12 7240011 7241269 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420983 S 1 0 1 PEX5 NA10851 esv2407960 12 7240191 7241224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931665 S 1 0 1 PEX5 NA18507 esv1740647 12 7240705 7240762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314580 S 2 0 1 PEX5 HuRef esv1262217 12 7240811 7240866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269491 S 2 0 1 PEX5 HuRef esv1200098 12 7241021 7241135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186015 S 2 0 1 PEX5 HuRef esv1245276 12 7243752 7243846 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745476 S 2 0 1 PEX5 HuRef nsv594 12 7372997 7407364 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8997 S 9 0 1 CD163L1 NA12156 nsv595 12 7434674 7450421 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2875 S 9 1 0 CD163L1 NA18555 esv1408895 12 7481129 7481129 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272688 S 2 1 0 CD163L1 HuRef esv273938 12 7495215 7495321 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580379,essv2579826,essv2580770,essv2579504 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 esv270516 12 7495218 7495512 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565880,essv2571630,essv2542274,essv2543991,essv2556815,essv2568299,essv2545381,essv2532017,essv2577473,essv2548203,essv2521502,essv2576786,essv2550332,essv2535426,essv2544290,essv2552089,essv2520471,essv2547528,essv2529254,essv2558468,essv2564779,essv2553740,essv2520034,essv2564162,essv2562015,essv2537586,essv2528596,essv2540210,essv2562745,essv2569248,essv2569778,essv2523782,essv2541228,essv2540622,essv2524328,essv2564870,essv2534779,essv2549139,essv2519517,essv2559985,essv2521899,essv2532510,essv2567882,essv2570300,essv2563864,essv2553256,essv2535664,essv2572611,essv2558992,essv2566768,essv2569084,essv2556398,essv2578376,essv2573054,essv2555409,essv2533594,essv2573411,essv2525610,essv2529814,essv2575643,essv2526411,essv2560839,essv2574916,essv2536248,essv2538008,essv2548724,essv2533242,essv2525035,essv2563345,essv2558229 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11840,NA11919,NA11992,NA11994,NA11995,NA12003,NA12006,NA12043,NA12045,NA12144,NA12154,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12815,NA12828,NA12874,NA12878,NA12891,NA18489,NA18507,NA18508,NA18520,NA18537,NA18545,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18871,NA18940,NA18942,NA18943,NA18944,NA18964,NA18980,NA19093,NA19099,NA19114,NA19137,NA19138 esv1394257 12 7495250 7495250 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022977 S 2 1 0 "" HuRef nsv525458 12 7514991 7523150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701586 S 2026 0 1 CD163 esv267832 12 7515424 7515762 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540721,essv2526018,essv2535289,essv2529235,essv2565317,essv2555033,essv2530559,essv2544846,essv2534789,essv2568000,essv2527666,essv2531594,essv2543221,essv2577065,essv2554577 M 157 15 0 Samples from several populations that are part of the HapMap project. CD163 NA07346,NA11831,NA11918,NA12249,NA12749,NA12812,NA12872,NA12873,NA18526,NA18561,NA18577,NA18952,NA18961,NA18965,NA18970 esv2504616 12 7580600 7582252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348565 S 1 0 1 "" NA18507 nsv526689 12 7620700 7626398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703023 S 2026 0 1 "" nsv468990 12 7620700 7692799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544011 S 1557 0 1 "" 1780862093_A nsv826213 12 7622199 7721911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439182 S 31 1 0 APOBEC1 NA18973 esv1726014 12 7635016 7635016 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351412 S 2 1 0 "" HuRef dgv178n27 12 7647973 7712959 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv468991,nsv468992 M 1557 0 2 APOBEC1 1780854573_A,1780862306_A nsv521149 12 7647973 7728255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697815 S 2026 0 1 APOBEC1 nsv898643 12 7651391 7686003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515558 S 6533 0 1 "" SP56223 dgv263n67 12 7651394 7696327 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826215,nsv826214 M 31 2 0 APOBEC1 AK6,NA18949 nsv826216 12 7659821 7709773 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436933 S 31 1 0 APOBEC1 NA18542 dgv264n67 12 7662731 7681633 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826218,nsv826217 M 31 0 2 "" AK10,AK2 dgv5e196 12 7665787 7998084 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422501,esv2422200,esv2422373 M 181 3 0 APOBEC1,CLEC4C,DPPA3,GDF3,NANOG,NANOGNB,SLC2A14,SLC2A3 ND01701,ND03532,ND05071 nsv826219 12 7668605 7678570 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425238 S 31 0 1 "" AK2 dgv265n67 12 7669504 7674036 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826222,nsv826221 M 31 2 0 "" NA18547,NA18972 nsv521241 12 7707018 7717572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687491,nssv692987 M 2026 0 2 APOBEC1 esv2542488 12 7713280 7716131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368401 S 1 0 1 "" NA18507 esv24357 12 7713851 7715100 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14690 S 451 1 0 "" NA12006 dgv6e196 12 7714691 7964299 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422192,esv2422336,esv2422242,esv2422371,esv2422236 M 181 5 0 CLEC4C,DPPA3,GDF3,NANOG,NANOGNB,SLC2A14,SLC2A3 ND01580,ND01613,ND01695,ND03710,ND05052 esv268979 12 7721286 7721624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519316,essv2516458,essv2513767,essv2518244 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12814,NA19143,NA19240 esv272637 12 7721286 7721624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581183 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2310738 12 7723957 7724403 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625252 S 1 0 1 "" NA18507 esv2422393 12 7726833 7878857 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161462 S 181 1 0 CLEC4C,DPPA3,GDF3,NANOG,NANOGNB,SLC2A14 ND01566 nsv513354 12 7732458 7733161 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625747 S 1 1 0 "" 1 dgv57e55 12 7744779 8007335 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34893,esv2751112 M 771 2 0 CLEC4C,DPPA3,NANOG,NANOGNB,SLC2A14,SLC2A3 BEC_53,NA12239 dgv454e1 12 7748086 8031668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23430,essv22626,essv564,essv6622,essv4142,essv20726,essv82 M 271 0 0 CLEC4C,DPPA3,NANOG,NANOGNB,SLC2A14,SLC2A3 NA10854,NA12752,NA18555,NA18621,NA18991,NA18998 dgv455e1 12 7748086 8515254 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15244,essv19432,essv22869,esv757 M 271 0 0 C3AR1,CLEC4A,CLEC4C,CLEC6A,DPPA3,FAM66C,FAM86FP,FAM90A1,FOXJ2,LOC389634,NANOG,NANOGNB,NECAP1,POU5F1P3,SLC2A14,SLC2A3,ZNF705A NA11840,NA12760,NA19094 nsv428270 12 7748086 8515254 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452247,nssv452249,nssv452240,nssv452248,nssv452243 M 62 5 0 C3AR1,CLEC4A,CLEC4C,CLEC6A,DPPA3,FAM66C,FAM86FP,FAM90A1,FOXJ2,LOC389634,NANOG,NANOGNB,NECAP1,POU5F1P3,SLC2A14,SLC2A3,ZNF705A HGDP00471,HGDP00984,HGDP01088,HGDP01093,NA19113 dgv1354n71 12 7764678 7884583 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898645,nsv898644 M 6533 2 0 CLEC4C,NANOG,NANOGNB,SLC2A14 SP52470,SP57501 nsv8897 12 7804782 7814267 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22721 S 31 1 0 Samples from several populations that are part of the HapMap project. NANOGNB NA18504 dgv456e1 12 7809727 7971597 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25177,essv21094 M 271 0 0 NANOG,NANOGNB,SLC2A14,SLC2A3 NA10854,NA11840 nsv7227 12 7818205 7889900 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1978,nssv1976 M 9 0 0 NANOG,SLC2A14 NA18555 nsv522654 12 7821438 7824902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706054 S 2026 0 1 "" dgv457e1 12 7836651 8031668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3650,essv19035 M 271 0 0 NANOG,SLC2A14,SLC2A3 NA07034,NA18991 nsv596 12 7838162 7858963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1977 S 9 1 0 NANOG,SLC2A14 NA18555 nsv516107 12 7844356 8039366 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653773,nssv661776,nssv686485,nssv661013,nssv691580,nssv662270,nssv674817,nssv653447,nssv682727,nssv658734,nssv683802,nssv668403,nssv684860,nssv653593,nssv685434,nssv678317,nssv702536,nssv680505,nssv689571,nssv681685,nssv678236,nssv678257,nssv693565,nssv692276,nssv684471,nssv667893,nssv685089,nssv652549,nssv660029,nssv703024,nssv690774,nssv682571,nssv672805,nssv695915,nssv676031,nssv687810,nssv690642,nssv686199,nssv653300,nssv661650,nssv662695,nssv681033,nssv678984,nssv681869,nssv685925,nssv691722,nssv677296,nssv653480,nssv659495,nssv676774,nssv682560,nssv672439,nssv652508,nssv682515,nssv680226,nssv673668,nssv657294,nssv682764,nssv653031,nssv654173,nssv691326,nssv651932,nssv680448,nssv665432,nssv657686 M 2026 56 9 SLC2A14,SLC2A3 nsv826223 12 7845250 7847884 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424468 S 31 1 0 "" NA18582 dgv58e55 12 7845318 8031668 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34279,esv34438,esv34692,esv34839,esv2751113,esv34531 M 771 6 0 SLC2A14,SLC2A3 BEC_615,NA12760,NA18621,NA18991,NA18998,NA19092 nsv8898 12 7846594 7848125 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19352,nssv23436 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA18517 nsv826224 12 7846734 7847884 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433900,nssv1431556,nssv1439899,nssv1435339,nssv1440576,nssv1438366,nssv1429213,nssv1436934,nssv1430055 M 31 9 0 "" AK14,AK18,NA18526,NA18537,NA18542,NA18564,NA18942,NA18947,NA18951 essv10974 12 7854479 7966952 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SLC2A14,SLC2A3 NA19092 esv34016 12 7854479 8007288 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SLC2A14,SLC2A3 esv2751114 12 7854479 8008336 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989900,essv6984030 M 771 0 1 SLC2A14,SLC2A3 BEC_755 nsv499606 12 7854981 7877925 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585499 S 9 0 0 SLC2A14 dgv1355n71 12 7861988 7977350 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898646,nsv898648 M 6533 0 2 SLC2A14,SLC2A3 IS33030,SP56734 dgv179n27 12 7861988 7990569 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469000,nsv468997,nsv469010,nsv468999 M 1557 4 0 SLC2A14,SLC2A3 HGDP00813,HGDP00929,HGDP01295,HGDP01301 dgv1356n71 12 7869040 7959494 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898647,nsv898661,nsv898683,nsv898684,nsv898662,nsv898660 M 6533 6 0 SLC2A14 IS35742,IS41909,MS20616,MS24705,SP51035,SP54164 dgv1357n71 12 7869040 8024640 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898682,nsv898657,nsv898674,nsv898691,nsv898649,nsv898673,nsv898658 M 6533 18 0 SLC2A14,SLC2A3 IS30301,IS30340,IS31259,IS33351,IS34775,IS35190,IS35297,IS38271,IS39722,IS39860,IS41956,MS12088,MS22858,MS25976,SP50144,SP54693,SP57181,SP81263 nsv818883 12 7876208 7960148 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418312,nssv1418311 M 112 2 0 SLC2A14 NA19092,NA19094 nsv470264 12 7876208 8017011 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546886,nssv546891,nssv546879,nssv546884,nssv546880,nssv546889,nssv546875,nssv546892,nssv546881,nssv546885,nssv546888,nssv546878,nssv546883,nssv546890,nssv546877,nssv546882 M 443 16 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A14,SLC2A3 HGDP00066,HGDP00622,HGDP00630,HGDP00694,HGDP00717,HGDP00894,HGDP00911,HGDP00929,HGDP01182,HGDP01188,HGDP01264,HGDP01269,HGDP01281,HGDP01301,HGDP01321,HGDP01326 nsv898650 12 7879028 7913199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591601,nssv1571270 M 6533 2 0 SLC2A14 IS32664,IS38995 dgv1358n71 12 7879028 7936264 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898651,nsv898659 M 6533 3 0 SLC2A14 IS37639,IS39515,MS25190 dgv1359n71 12 7879028 7993653 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898664,nsv898665,nsv898692,nsv898652,nsv898653,nsv898663,nsv898686,nsv898696,nsv898685,nsv898666,nsv898667,nsv898702 M 6533 26 0 SLC2A14,SLC2A3 IS30143,IS34387,IS35952,IS36990,IS41243,MS12003,MS12234,MS15428,MS15822,MS18170,MS20630,MS21340,MS21840,MS23110,MS24471,MS25280,MS25553,SP52264,SP52400,SP52552,SP52729,SP54220,SP55039,SP55290,SP80955,SP81085 dgv1360n71 12 7879028 8024640 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898677,nsv898715,nsv898679,nsv898670,nsv898714,nsv898700,nsv898688,nsv898694,nsv898697,nsv898709,nsv898704,nsv898717,nsv898705,nsv898678,nsv898698,nsv898711,nsv898706,nsv898707,nsv898655,nsv898699,nsv898716,nsv898708,nsv898710,nsv898703,nsv898676,nsv898669 M 6533 52 0 SLC2A14,SLC2A3 IS30228,IS30515,IS31171,IS31849,IS35189,IS35471,IS35554,IS38183,IS38804,IS40067,IS40248,IS40799,MS10444,MS10821,MS11435,MS12261,MS14804,MS18789,MS19119,MS19685,MS22224,MS22251,MS26119,SP50145,SP50532,SP52094,SP52331,SP54026,SP54134,SP54225,SP54591,SP54892,SP54990,SP55223,SP55265,SP55318,SP55789,SP55835,SP55868,SP55882,SP56348,SP56458,SP56689,SP56762,SP56875,SP57376,SP57410,SP58047,SP81191,SP81275,SP81409,SP81571 dgv1361n71 12 7879028 8034065 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv898654,nsv898668,nsv898671,nsv898672,nsv898690,nsv898681,nsv898656,nsv898687,nsv898675,nsv898689 M 6533 150 23 SLC2A14,SLC2A3 IS30063,IS30198,IS30275,IS30325,IS30345,IS30473,IS30520,IS30609,IS31194,IS31317,IS31812,IS32661,IS32992,IS33472,IS33475,IS34020,IS34340,IS34382,IS34472,IS35186,IS35379,IS35403,IS35637,IS35704,IS36533,IS36678,IS36820,IS37207,IS37247,IS37248,IS37346,IS37435,IS37456,IS37543,IS37628,IS37646,IS37712,IS37853,IS37992,IS38006,IS38128,IS38153,IS38176,IS38219,IS38226,IS38337,IS38402,IS38491,IS38492,IS38640,IS38736,IS39011,IS39333,IS39388,IS39393,IS39428,IS39527,IS39780,IS39881,IS40346,IS40612,IS40662,IS40776,IS40801,IS40874,IS40943,IS41317,IS41562,IS41664,IS41824,IS41903,MS10156,MS10350,MS10574,MS10778,MS10973,MS11204,MS11218,MS11694,MS12191,MS12211,MS12265,MS12787,MS12861,MS13148,MS13408,MS13469,MS13548,MS14147,MS14316,MS14634,MS14658,MS14947,MS15036,MS15573,MS15973,MS16211,MS16385,MS16558,MS16609,MS16801,MS16822,MS16851,MS17359,MS17529,MS17609,MS17718,MS17730,MS17849,MS17869,MS18326,MS18677,MS18779,MS19062,MS19630,MS20830,MS21124,MS21130,MS22076,MS22524,MS22580,MS22653,MS23787,MS23875,MS24662,MS24672,MS24785,MS24867,MS24969,MS25300,MS25412,MS26140,SP50058,SP50129,SP50597,SP50877,SP51132,SP51307,SP51328,SP52017,SP52113,SP52627,SP52732,SP53583,SP54284,SP54285,SP54383,SP54448,SP54461,SP54561,SP54768,SP54958,SP55353,SP55355,SP55652,SP56086,SP56207,SP56224,SP56324,SP56542,SP56833,SP57113,SP57328,SP57489,SP57941,SP58161,SP58328,SP80960,SP81020,SP81156,SP81242,SP81389,SP81407 nsv470265 12 7884583 8014573 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546893,nssv546894 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A14,SLC2A3 HGDP00456,HGDP00679 dgv180n27 12 7884583 8034733 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469031,nsv469046,nsv469057,nsv469029,nsv469026,nsv469028,nsv469014,nsv469048,nsv469001,nsv469050,nsv469025,nsv469039,nsv469033,nsv469019,nsv469047,nsv469052,nsv469035,nsv469018,nsv469041,nsv469036,nsv469020,nsv469051,nsv469004,nsv469045,nsv469015,nsv469043,nsv469022,nsv469034,nsv469040,nsv469024,nsv469017,nsv469053,nsv469013,nsv469021,nsv469098,nsv469037,nsv469006,nsv469012,nsv469080,nsv469011,nsv469023,nsv469030,nsv469032,nsv469042,nsv469056,nsv469091 M 1557 46 0 SLC2A14,SLC2A3 1780854357_A,1780854477_A,1780854485_A,1780862175_A,1780862276_A,1780862521_A,1780862577_A,1780862594_A,1782681023_A,HGDP00015,HGDP00066,HGDP00120,HGDP00151,HGDP00161,HGDP00197,HGDP00216,HGDP00259,HGDP00514,HGDP00525,HGDP00534,HGDP00630,HGDP00694,HGDP00717,HGDP00761,HGDP00897,HGDP00898,HGDP00911,HGDP00955,HGDP01018,HGDP01188,HGDP01264,HGDP01269,HGDP01289,HGDP01326,HGDP01341,HGDP01350,HGDP01352,NINDS_13,NINDS_15,NINDS_191,NINDS_205,NINDS_235,NINDS_54,NINDS_59,NINDS_78,NINDS_96 esv29743 12 7886545 8014573 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16245 S 451 1 0 SLC2A14,SLC2A3 NA12239 dgv181n27 12 7888157 7949190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469008,nsv469087 M 1557 0 2 SLC2A14 1780854039_A,HGDP00285 dgv182n27 12 7888157 7990569 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469009,nsv469089,nsv469088,nsv469090 M 1557 0 4 SLC2A14,SLC2A3 1780862111_A,HGDP00210,HGDP00456,HGDP00733 nsv818884 12 7888157 8014573 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418394 S 112 1 0 SLC2A14,SLC2A3 NA12239 esv2422117 12 7888157 8015167 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5045736,essv5022312,essv5006247,essv5017989,essv5087853,essv5060394,essv5048833,essv5100278,essv5075971,essv5107821,essv5149676,essv5153222,essv5114745,essv5089430,essv5004993,essv5083298,essv5118810,essv5002546,essv5139694,essv5130553,essv5043481,essv5155623,essv5006517,essv5049743,essv5059683,essv5155630,essv5063825,essv5008644,essv5015067,essv5010474,essv5139062,essv5081342,essv5093275,essv5111722,essv5089055,essv5035834,essv5073556,essv5049733,essv5104591,essv5143065,essv5121383,essv5007705,essv5043296,essv5130002,essv5002744,essv5152503,essv5042140,essv5080145,essv5132295,essv5062947,essv5157245,essv5066996,essv5154585,essv5055985,essv5008991 M 1184 55 0 SLC2A14,SLC2A3 NA07051,NA10854,NA11840,NA12239,NA12708,NA12718,NA12739,NA12752,NA12760,NA12877,NA12890,NA17966,NA17990,NA18488,NA18555,NA18621,NA18627,NA18873,NA18875,NA18924,NA18957,NA18991,NA18998,NA19055,NA19094,NA19113,NA19115,NA19121,NA19122,NA19193,NA19652,NA19713,NA19714,NA19921,NA19985,NA20129,NA20297,NA20344,NA20349,NA20350,NA20534,NA20756,NA20759,NA20787,NA20800,NA20801,NA20850,NA20879,NA20892,NA20904,NA21333,NA21576,NA21613,NA21617,NA21631 dgv183n27 12 7888157 8017012 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469092,nsv469044,nsv469093 M 1557 0 3 SLC2A14,SLC2A3 1780854130_A,1780854235_A,HGDP00679 nsv826225 12 7888972 8018429 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426037 S 31 1 0 SLC2A14,SLC2A3 AK4 dgv1362n71 12 7891603 8014573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898680,nsv898693 M 6533 0 3 SLC2A14,SLC2A3 MS17017,SP52432,SP57042 nsv442253 12 7895692 8015167 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC2A14,SLC2A3 nsv898695 12 7899446 7928703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592285 S 6533 0 1 SLC2A14 IS39233 nsv898701 12 7905308 7959494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504460 S 6533 1 0 SLC2A14 SP52497 dgv59e55 12 7908740 8033850 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751115,esv2751120,esv2751123,esv2751116,esv2751117,esv2751119 M 771 6 0 SLC2A14,SLC2A3 BEC_175,BEC_505,BEC_527,BEC_768,NA18555,SPC_129 esv2751118 12 7908740 8081473 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987138,essv6984997,essv6984996 M 771 1 0 FOXJ2,SLC2A14,SLC2A3 SPC_3 essv22724 12 7908745 7966952 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SLC2A14,SLC2A3 NA12239 dgv60e55 12 7908745 8025936 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34402,esv2751121,esv2751122 M 771 0 3 SLC2A14,SLC2A3 BEC_106,BEC_558,BEC_559 dgv458e1 12 7908745 8033850 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv631,essv5860,essv12926,essv6072 M 271 0 0 SLC2A14,SLC2A3 NA18555,NA18621,NA18998,NA19094 esv2751124 12 7915629 7926410 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984811,essv6987690 M 771 1 0 SLC2A14 SPC_181 nsv469100 12 7915629 7990569 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544084 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A14,SLC2A3 HGDP01019 dgv1363n71 12 7916533 7993653 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898723,nsv898713,nsv898724,nsv898712,nsv898719,nsv898718 M 6533 8 0 SLC2A14,SLC2A3 IS30276,MS10869,MS12823,MS14313,MS18598,MS23791,SP52851,SP52982 essv23467 12 7918138 7989956 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SLC2A3 NA07034 esv1281371 12 7918799 7918853 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621828 S 2 0 1 "" HuRef dgv1364n71 12 7932188 8017012 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898725,nsv898730,nsv898727,nsv898720,nsv898728,nsv898721,nsv898726,nsv898722 M 6533 14 0 SLC2A3 IS31778,IS32664,IS36320,IS38995,IS39996,IS40004,MS12609,MS12917,MS13430,MS14522,MS15242,MS19533,SP55183,SP80982 nsv898729 12 7936264 8081473 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550303 S 6533 1 0 FOXJ2,SLC2A3 MS18400 nsv53191 12 7960613 7961535 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71769 M 24 "" nsv898731 12 7972629 8004711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504461 S 6533 1 0 SLC2A3 SP52497 nsv898732 12 8014573 8081473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588229 S 6533 0 1 FOXJ2 IS38176 esv2469681 12 8023172 8025149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214089 S 1 0 1 "" NA18507 nsv512251 12 8023379 8026964 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624825 S 1 0 1 "" 1 esv1098616 12 8023630 8024147 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037484 S 2 0 1 "" HuRef esv4325 12 8042751 8043495 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26766 S 1 0 1 Single Asian sample YH "" YH esv32804 12 8112120 8112663 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98768 S 51 0 1 "" 21606 dgv459e1 12 8167813 8332082 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv975,essv23786,essv5572,essv9593,essv19224,essv9785,essv14163,essv21559 M 271 0 0 CLEC4A,FAM66C,FAM86FP,FAM90A1,POU5F1P3,ZNF705A NA10838,NA12763,NA12873,NA18529,NA18863,NA18981,NA19140,NA19141 dgv460e1 12 8167813 8472071 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20779,essv11096,essv11235,essv13761,essv21611,essv22144,essv10618,essv19506,essv6681,essv6298,essv18903,essv17504 M 271 0 0 CLEC4A,FAM66C,FAM86FP,FAM90A1,LOC389634,POU5F1P3,ZNF705A NA10857,NA12146,NA12155,NA12717,NA12762,NA12864,NA18608,NA18609,NA18855,NA19153,NA19204,NA19211 dgv461e1 12 8167813 8515254 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2489,essv2987,essv11912 M 271 0 0 CLEC4A,CLEC6A,FAM66C,FAM86FP,FAM90A1,LOC389634,POU5F1P3,ZNF705A NA18502,NA18981,NA19003 nsv8899 12 8201345 8272107 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20270,nssv23505,nssv22739,nssv20867,nssv23781,nssv18829,nssv23236,nssv20538,nssv20326,nssv20464,nssv23208,nssv18922,nssv19794,nssv24079,nssv18815,nssv20568,nssv21308,nssv21628,nssv21009,nssv18785,nssv25605,nssv22780,nssv20819,nssv23464,nssv19382 M 31 14 8 Samples from several populations that are part of the HapMap project. FAM66C,FAM90A1,ZNF705A NA07029,NA10839,NA10847,NA12155,NA12740,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 esv29886 12 8205041 8493096 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16287,esv14639,esv11524,esv11842,esv13065,esv16224,esv13835,esv17877 M 451 24 8 FAM66C,FAM86FP,FAM90A1,LOC389634,ZNF705A NA06985,NA07045,NA11894,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv462e1 12 8211560 8398448 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10717,essv22703,essv19822,essv21881 M 271 0 0 FAM66C,FAM86FP,FAM90A1,ZNF705A NA06991,NA10847,NA12004,NA18508 nsv826226 12 8216149 8286955 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441391 S 31 1 0 FAM66C,FAM86FP,FAM90A1,ZNF705A NA18969 nsv471365 12 8216417 8223909 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548080,nssv548079,nssv548077 M 3 ZNF705A dgv463e1 12 8220967 8449509 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7050,essv12026,essv20724,essv11464,essv21915 M 271 0 0 FAM66C,FAM86FP,FAM90A1,LOC389634,ZNF705A NA10838,NA12752,NA18612,NA18856,NA19116 esv1273398 12 8228110 8228110 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661120 S 2 1 0 FAM66C HuRef essv6083 12 8234455 8302160 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM66C,FAM86FP,FAM90A1 NA18621 essv1083 12 8234455 8332082 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM66C,FAM86FP,FAM90A1 NA18990 nsv433419 12 8237875 8322268 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463300 S 9 1 0 Samples from several populations that are part of the HapMap project. FAM66C,FAM86FP,FAM90A1 NA19240 dgv1365n71 12 8248774 8491630 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898734,nsv898733 M 6533 2 0 FAM86FP,FAM90A1,LOC389634 IS39243,MS18620 nsv820442 12 8252558 8270464 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420984 S 1 1 0 FAM90A1 NA10851 nsv597 12 8254378 8263752 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1979 S 9 1 0 "" NA18555 dgv464e1 12 8259480 8283630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22621,essv19709,essv4330 M 271 0 0 FAM86FP,FAM90A1 NA12154,NA12236,NA18564 dgv465e1 12 8259480 8333886 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21366,essv19154,essv5944 M 271 0 0 FAM86FP,FAM90A1 NA10860,NA12812,NA18577 esv995004 12 8262543 8270349 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586113 S 3 1 0 FAM90A1 HuRef nsv514677 12 8262675 8270392 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627115 S 1414 0 0 FAM90A1 esv1001803 12 8263838 8268634 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565513 S 3 1 0 FAM90A1 HuRef essv13388 12 8269208 8398448 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM86FP,FAM90A1 NA18872 esv2523633 12 8270403 8295002 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167248 S 1 0 1 FAM86FP,FAM90A1 NA18507 esv2477755 12 8323827 8403300 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320272 S 1 0 1 LOC389634 NA18507 nsv508664 12 8342143 8495958 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622642,nssv618840,nssv620033,nssv617396,nssv622639 M 4 0 4 LOC389634 CHM,NA10860,NA15510,NA18994 nsv898735 12 8370609 8459625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505504 S 6533 0 1 LOC389634 SP53583 nsv898736 12 8370609 8496483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584655 S 6533 1 0 LOC389634 IS37103 nsv8900 12 8424249 8444469 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23808,nssv23264,nssv20356,nssv21338 M 31 2 2 Samples from several populations that are part of the HapMap project. LOC389634 NA12155,NA18502,NA18552,NA18972 esv2557795 12 8424268 8487637 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226743 S 1 0 1 LOC389634 NA18507 nsv598 12 8433944 8494779 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4009,nssv5397,nssv6487,nssv10849,nssv1060,nssv9827,nssv10900 M 9 0 7 LOC389634 NA12156,NA12878,NA15510,NA18507,NA18956,NA19129,NA19240 nsv821277 12 8436151 8493096 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420985 S 1 0 1 "" NA10851 dgv39n16 12 8447093 8483828 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436150,nsv435636 M 2 0 2 "" NA15510,NA18505 nsv77 12 8448532 8483138 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv77 S 1 0 1 "" NA15510 nsv512252 12 8449573 8482753 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624826 S 1 0 1 "" 1 esv1003422 12 8449752 8459492 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576695 S 3 0 1 "" HuRef dgv14n47 12 8449752 8482115 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498777,nsv498778 M 9 0 2 "" nsv442631 12 8449755 8475939 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8901 12 8454283 8458877 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23492 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv512253 12 8465320 8487621 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624827 S 1 0 1 "" 1 esv6092 12 8467293 8487932 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28533 S 1 0 1 "" SJK esv2319286 12 8490705 8491109 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556361 S 1 0 1 "" NA18507 nsv518772 12 8507076 8558846 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696222 S 2026 1 0 CLEC4D,CLEC6A nsv518125 12 8507076 8562541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695543 S 2026 0 1 CLEC4D,CLEC6A esv2587098 12 8516207 8517921 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390079 S 1 0 1 CLEC6A NA18507 esv2178781 12 8516651 8517361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954687 S 1 0 1 CLEC6A NA18507 esv1064509 12 8516859 8517170 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231940 S 2 0 1 CLEC6A HuRef esv6604 12 8516861 8517155 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29045 S 1 0 1 CLEC6A SJK nsv600 12 8522913 8536827 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8998 S 9 0 1 "" NA12156 nsv526021 12 8554076 8562541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702251 S 2026 0 1 CLEC4D nsv898737 12 8564544 8618178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556717 S 6533 0 1 CLEC4D,CLEC4E MS22122 nsv510286 12 8585842 8591842 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624102,nssv618359 M 4 0 2 "" CHM,NA18994 esv21501 12 8589261 8589921 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15126 S 451 0 1 "" NA18505 nsv527782 12 8648058 8648748 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704273 S 2026 1 0 AICDA esv2512154 12 8716637 8719426 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283946 S 1 0 1 "" NA18507 esv22028 12 8741427 8743160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13898 S 451 0 1 RIMKLB NA07045 nsv436155 12 8785058 8790881 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466680 S 2 0 1 Samples from several populations that are part of the HapMap project. RIMKLB NA18505 esv26413 12 8786162 8790181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11649 S 451 0 1 RIMKLB NA18505 esv34096 12 8818787 8860077 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 RIMKLB nsv601 12 8837314 8845626 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5398 S 9 1 0 "" NA19129 nsv521922 12 8877646 8883237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694692 S 2026 0 1 A2ML1 esv29462 12 8901282 8905028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15931 S 451 0 1 A2ML1 NA18502 nsv516260 12 8901938 8904596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679273,nssv667141 M 2026 0 2 A2ML1 nsv442254 12 8902508 8905023 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 A2ML1 esv2603013 12 8907530 8909663 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318107 S 1 0 1 A2ML1 NA18507 nsv512254 12 8908001 8909426 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624828 S 1 0 1 A2ML1 1 dgv28e180 12 8908108 8909134 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988877,esv1002966 M 3 0 1 A2ML1 HuRef esv1448345 12 8908119 8909146 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893805 S 2 0 1 A2ML1 HuRef nsv53517 12 8908348 8909373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72095 M 24 A2ML1 nsv832327 12 8973046 9137487 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449666,nssv1449589,nssv1449597,nssv1449620,nssv1449676,nssv1449674,nssv1449648,nssv1449600,nssv1449591,nssv1449647,nssv1449590,nssv1449592,nssv1449594,nssv1449593,nssv1449608,nssv1449596,nssv1449601,nssv1449607,nssv1449602,nssv1449605,nssv1449603,nssv1449604,nssv1449598,nssv1449667,nssv1449619,nssv1449609,nssv1449610,nssv1449613,nssv1449611,nssv1449612,nssv1449668,nssv1449661,nssv1449615,nssv1449614,nssv1449653,nssv1449599,nssv1449654,nssv1449652,nssv1449664,nssv1449618,nssv1449649,nssv1449665,nssv1449671,nssv1449625,nssv1449655,nssv1449663,nssv1449675,nssv1449646,nssv1449622,nssv1449621,nssv1449624,nssv1449623,nssv1449657,nssv1449650,nssv1449630,nssv1449627,nssv1449631,nssv1449626,nssv1449658,nssv1449659,nssv1449656,nssv1449645,nssv1449637,nssv1449632,nssv1449660,nssv1449669,nssv1449616,nssv1449670,nssv1449633,nssv1449636,nssv1449634,nssv1449635,nssv1449638,nssv1449639,nssv1449672,nssv1449644,nssv1449643,nssv1449641,nssv1449642 M 95 0 79 A2M,C12orf33,KLRG1,LOC144571,M6PR,PHC1 nsv52793 12 8974789 8976423 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71371 M 24 PHC1 nsv819596 12 9004781 9032804 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418712 S 2 1 0 "" AK1 esv2430583 12 9026486 9027991 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332257 S 1 0 1 "" NA18507 esv2231022 12 9027131 9027586 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688702 S 1 0 1 "" NA18507 nsv521482 12 9044413 9045199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698093 S 2026 0 1 KLRG1 nsv898738 12 9096297 9165661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538094 S 6533 0 1 A2M,C12orf33,LOC144571 MS13480 nsv527404 12 9141868 9326511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703840 S 2026 1 0 A2M,A2MP1,LOC100499405,MIR1244-1,MIR1244-2,MIR1244-3,PZP nsv523958 12 9194707 9440339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699808 S 2026 0 1 A2MP1,LOC100499405,LOC642846,MIR1244-1,MIR1244-2,MIR1244-3,PZP nsv469101 12 9234853 9254198 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544085 S 1557 0 1 PZP 1780862528_A esv272910 12 9260468 9260803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581913,essv2582607,essv2584728 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 esv270666 12 9260479 9260806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557819,essv2525907,essv2542472,essv2570922,essv2568390,essv2570562,essv2548328,essv2521513,essv2525383,essv2535425,essv2554106,essv2544384,essv2552029,essv2520588,essv2547567,essv2529325,essv2564656,essv2578000,essv2553760,essv2559608,essv2555094,essv2530767,essv2561941,essv2537576,essv2528335,essv2539958,essv2532214,essv2562586,essv2538941,essv2569649,essv2527332,essv2561405,essv2545001,essv2562811,essv2523529,essv2541282,essv2564915,essv2534879,essv2549168,essv2519618,essv2560037,essv2566079,essv2532791,essv2568031,essv2529023,essv2569957,essv2553304,essv2572245,essv2559377,essv2542071,essv2551083,essv2556240,essv2528068,essv2573009,essv2555353,essv2555537,essv2527620,essv2557684,essv2522612,essv2531385,essv2543094,essv2577084,essv2571930,essv2526511,essv2574895,essv2568840,essv2546123,essv2551328,essv2536258,essv2537932,essv2548716,essv2533031,essv2554521,essv2563154 M 157 74 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11918,NA11919,NA11993,NA11995,NA12044,NA12045,NA12144,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12872,NA12873,NA12874,NA12878,NA12891,NA18489,NA18505,NA18507,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18558,NA18561,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18579,NA18593,NA18605,NA18609,NA18638,NA18856,NA18858,NA18871,NA18907,NA18942,NA18943,NA18945,NA18952,NA18953,NA18960,NA18961,NA18965,NA18970,NA18973,NA19114,NA19138,NA19147,NA19239,NA19257 esv1388618 12 9260506 9260506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930055 S 2 1 0 "" HuRef dgv466e1 12 9262862 9814796 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9757,esv607 M 271 0 0 A2MP1,CD69,CLEC2D,CLECL1,DDX12P,KLRB1,LOC100499405,LOC374443,LOC642846,MIR1244-1,MIR1244-2,MIR1244-3 NA18863 nsv8903 12 9266955 9272540 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22798,nssv21368 M 31 0 2 Samples from several populations that are part of the HapMap project. A2MP1 NA12155,NA19240 esv992832 12 9271711 9272404 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563518 S 3 1 0 A2MP1 HuRef nsv898739 12 9289632 9326511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573647 S 6533 0 1 "" IS33475 nsv7228 12 9293371 9516507 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9828,nssv5399,nssv9829,nssv6488,nssv1980 M 9 0 0 DDX12P,LOC642846 NA12156,NA18507,NA18555,NA19129 dgv1366n71 12 9327713 9438229 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898740,nsv898741 M 6533 2 0 LOC642846 IS38099,IS38402 nsv8904 12 9359727 9361766 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23292 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 dgv1367n71 12 9364424 9413617 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898743,nsv898742 M 6533 4 0 "" MS12644,MS16447,MS21442,MS24250 esv2367371 12 9396048 9396469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560145 S 1 0 1 "" NA18507 nsv898744 12 9409489 9559647 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558612 S 6533 0 1 DDX12P MS23423 nsv898745 12 9420282 9607393 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534413 S 6533 1 0 DDX12P MS11569 nsv8905 12 9433429 9439574 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20849 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv508665 12 9437500 9493022 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622648 S 4 0 1 DDX12P NA18994 nsv509454 12 9437500 9493022 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619531 S 4 1 0 DDX12P NA10860 esv29575 12 9437860 9446318 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18207 S 451 14 0 "" NA11993,NA11995,NA12006,NA12239,NA12414,NA12489,NA15510,NA18502,NA18508,NA18511,NA18916,NA19114,NA19147,NA19225 nsv8906 12 9439120 9447262 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20494,nssv21217,nssv20897,nssv21658,nssv18310,nssv19824,nssv18859,nssv20879,nssv18952,nssv20186,nssv23835,nssv23520,nssv20300,nssv20386,nssv20715 M 31 15 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12802,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18942,NA18972,NA18975,NA19007,NA19144,NA19173 esv2568009 12 9442202 9622865 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358262 S 1 0 1 DDX12P NA18507 esv26597 12 9446378 9450240 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11168,esv15313,esv10785 M 451 0 4 "" NA11993,NA12749,NA19114,NA19225 esv1680450 12 9447440 9447512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029146 S 2 0 1 "" HuRef esv1378575 12 9449028 9449987 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712470 S 2 0 1 "" HuRef esv990363 12 9449033 9449991 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570871 S 3 0 1 "" HuRef esv2058743 12 9450215 9452675 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990617 S 1 0 1 "" NA18507 esv2587301 12 9450345 9453922 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237398 S 1 0 1 "" NA18507 dgv467e1 12 9451354 9630395 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6115,essv7579,essv5319,essv16423,essv4371,essv24496,essv5644,essv21376 M 271 0 0 DDX12P NA12740,NA12802,NA18532,NA18545,NA18563,NA18573,NA18579,NA19139 nsv428271 12 9451354 9721935 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452261,nssv452252,nssv452255,nssv452256,nssv452258,nssv452254,nssv452259,nssv452251,nssv452257,nssv452260 M 62 10 0 CLEC2D,DDX12P,KLRB1,LOC374443 HGDP00462,HGDP00471,HGDP00474,HGDP00984,NA18916,NA19108,NA19113,NA19147,NA19189,NA19225 dgv468e1 12 9451354 9814796 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12389,essv18936,essv10450,essv17430,essv8478,essv1253,essv10808,essv22135,essv2474,essv12484,essv8297,essv14609,essv5021,essv15254,essv12599,essv9988,essv15618,essv18587,essv8187,essv13697,essv12813,essv3854,essv18239,essv15065,essv19759,essv15785,essv6754,essv13173,essv6383,essv2685,essv2988,essv16538,essv15425,essv15557,essv9935,essv3189,essv8175,essv14366,essv4482,essv8753,essv24230,essv11024,essv11492,essv7367,essv4615,essv24980,essv23785,essv10289,essv20949,essv5239,essv9375,essv13463,essv4549,essv24672,essv13835,essv10668,essv23073,essv12672,essv22573,essv11419,essv7235,essv21044,essv8799,essv10815,essv11206,essv11159,essv16759,essv21990,essv9732,essv17199,essv12737,essv16155,essv3802,essv22811,essv2018,essv21194,essv2875,essv5489,essv16047,essv11929,essv16840,essv23606,essv20145,essv12250,essv15476 M 271 0 0 CD69,CLEC2D,CLECL1,DDX12P,KLRB1,LOC374443 NA06991,NA07345,NA07348,NA10835,NA10839,NA10856,NA10857,NA11829,NA11830,NA11995,NA12004,NA12005,NA12006,NA12043,NA12057,NA12234,NA12763,NA12801,NA12812,NA18500,NA18501,NA18502,NA18505,NA18506,NA18508,NA18515,NA18516,NA18523,NA18524,NA18547,NA18552,NA18562,NA18570,NA18572,NA18576,NA18594,NA18624,NA18632,NA18853,NA18854,NA18855,NA18857,NA18871,NA18872,NA18912,NA18913,NA18914,NA18943,NA18949,NA18953,NA18967,NA18974,NA18981,NA18994,NA18995,NA18999,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19129,NA19131,NA19137,NA19143,NA19145,NA19171,NA19173,NA19192,NA19194,NA19203,NA19204,NA19205,NA19206,NA19207,NA19210,NA19211,NA19238 nsv8907 12 9455929 9466480 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23320 S 31 1 0 Samples from several populations that are part of the HapMap project. DDX12P NA18502 dgv1368n71 12 9484807 9627546 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898746,nsv898747 M 6533 0 2 DDX12P IS37884,SP56084 nsv602 12 9500570 9639761 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5400,nssv9830,nssv6490,nssv9277,nssv10850,nssv4010 M 9 0 6 KLRB1 NA12156,NA12878,NA18507,NA18517,NA18956,NA19129 dgv469e1 12 9501978 9664499 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1319,essv23266,essv1684,essv2568,essv1050,essv3931,essv10962,essv4218,essv1299,essv965,essv7057,essv3584,essv1078,essv5011,essv208,essv20879,essv2378,essv12924,essv622,essv7682,essv96,essv10513,essv22013,essv21873,essv6533,essv3507,essv23298,essv12099,essv12108,essv21627,essv8671,essv4515,essv5695,essv20468,essv9949,essv21358,essv15176,essv18908,essv20454,essv12959,essv19702,essv5861,essv22798,essv15951,essv7456,essv13292,essv14898,essv6925,essv3902,essv7517,essv11058,essv13270,essv6850,essv21085,essv4544,essv730,essv8908,essv6203,essv8978,essv8998,essv6417,essv17865,essv8514,essv24951,essv2923,essv5834,essv21650,essv1548,essv11401,essv19072,essv25030,essv6463,essv20531,essv13811,essv17686,essv20680,essv16621,essv8510,essv5895,essv8396,essv14250,essv19138,essv6048,essv6799,essv2962,essv17214,essv2158,essv22246,essv7937,essv6434,essv18547,essv9554,essv11311,essv15,essv23761,essv3260,essv14798,essv13390,essv17358,essv19334,essv8686,essv3827,essv20823,essv14218,essv13506,essv2404,essv1992,essv8057,essv3688,essv3316,essv926,essv13945,essv503,essv23305,essv3437,essv2109,essv6500,essv1650,essv2752,essv18784,essv19855,essv1714,essv5967,essv22687,essv2701,essv19305 M 271 0 0 KLRB1 NA06991,NA06994,NA07022,NA07345,NA07348,NA10835,NA10854,NA10855,NA10857,NA10860,NA11830,NA11992,NA11993,NA11994,NA11995,NA12004,NA12006,NA12145,NA12234,NA12236,NA12249,NA12264,NA12707,NA12717,NA12753,NA12761,NA12801,NA12802,NA12812,NA12815,NA12872,NA12891,NA18515,NA18517,NA18523,NA18524,NA18532,NA18545,NA18550,NA18552,NA18555,NA18558,NA18563,NA18566,NA18571,NA18572,NA18576,NA18582,NA18592,NA18594,NA18603,NA18608,NA18609,NA18611,NA18612,NA18620,NA18623,NA18637,NA18853,NA18854,NA18857,NA18861,NA18863,NA18870,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18967,NA18968,NA18970,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18992,NA18994,NA18995,NA18998,NA18999,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19099,NA19100,NA19101,NA19102,NA19103,NA19129,NA19138,NA19139,NA19143,NA19160,NA19171,NA19173,NA19192,NA19194,NA19201,NA19202,NA19204,NA19208,NA19209,NA19210 dgv470e1 12 9502064 9604705 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5670,essv25192,essv19339 M 271 0 0 "" NA06985,NA11840,NA18605 dgv471e1 12 9505288 9702031 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13231,essv6555,essv756,essv8584,essv11391,essv7664 M 271 0 0 KLRB1,LOC374443 NA18624,NA18632,NA19003,NA19127,NA19130,NA19131 dgv1369n71 12 9508350 9646845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898748,nsv898753,nsv898751,nsv898752,nsv898750 M 6533 0 10 KLRB1 IS30238,IS34779,IS35041,IS41940,MS20073,MS20440,MS20616,MS21356,MS21868,SP57489 nsv53753 12 9511898 9511967 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72331 M 24 "" esv2473026 12 9511910 9511967 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391800 S 1 0 1 "" NA18507 nsv898749 12 9514883 9632106 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585455,nssv1589844 M 6533 2 0 "" IS37458,IS38412 nsv511012 12 9516760 9635419 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618621 S 4 0 0 "" CHM nsv8908 12 9523968 9626720 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22856,nssv18982,nssv20524,nssv20957,nssv18340,nssv20909,nssv18889,nssv20446,nssv21039,nssv22827,nssv23406,nssv18949,nssv23862,nssv18521,nssv18919,nssv23548,nssv21099,nssv21688,nssv18370,nssv20216,nssv23533,nssv21247,nssv20805,nssv20605,nssv20775,nssv20927,nssv23576,nssv20330,nssv20939,nssv23348,nssv19854,nssv20635,nssv18551 M 31 21 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12740,NA12802,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 dgv266n67 12 9523980 9554440 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826232,nsv826227 M 31 0 2 "" AK6,NA18942 dgv267n67 12 9523980 9636975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826230,nsv826228,nsv826233,nsv826229 M 31 0 19 "" AK10,AK12,AK14,AK16,AK2,AK20,AK8,NA18526,NA18537,NA18542,NA18564,NA18582,NA18592,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997 nsv821442 12 9523980 9636975 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420986 S 1 0 1 "" NA10851 esv25674 12 9524006 9626453 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19538 S 451 30 0 "" NA06985,NA07037,NA07045,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820073 12 9524009 9619871 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418767 S 2 1 0 "" AK1 esv33284 12 9524065 9604661 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97509,essv93950,essv93904,essv93864,essv100661,essv100748,essv100806,essv96816,essv101078,essv101051,essv100980,essv94749,essv94765,essv94792,essv101380,essv101301,essv95442,essv95458,essv95527,essv93117,essv93049,essv93004,essv96108,essv96199,essv96681,essv96632,essv96599,essv97256,essv97118,essv97147,essv99913,essv93348,essv94932,essv94963,essv95048,essv97719,essv97767 M 51 3 13 "" 21616,21634,21656,21659,21693,21791,21805,21847,21863,22007,22011,22075,22086,22170,22231,22278 nsv498779 12 9524170 9623304 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585640 S 9 0 1 "" nsv442632 12 9524645 9619559 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421757 12 9525137 9622904 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124172,essv5049655,essv5102923,essv5033246,essv5044287,essv5060930,essv5043957,essv5016755,essv5146133,essv5130949,essv5066876,essv5016220,essv5008593,essv5146676,essv5093925,essv5048041,essv5009721,essv5033951,essv5153165,essv5048082,essv5099968,essv5107970,essv5004324,essv5085925,essv5029244,essv5061497,essv5141767,essv5127464,essv5016596,essv5086023,essv5104012,essv5030315,essv5102070,essv5055676,essv5160457,essv5064872,essv5066934,essv5101469,essv5097422,essv5014955,essv5113651,essv5012604,essv5082733,essv5080202,essv5063882,essv5022255,essv5047654,essv5072562,essv5095103,essv5051116,essv5143087,essv5159566,essv5156696,essv5092890,essv5006568,essv5145587,essv5109051,essv5055377,essv5077463,essv5094730,essv5128263,essv5073565,essv5077049,essv5073633,essv5025064,essv5153788,essv5141940,essv5103020,essv5029024,essv5072188,essv5126448,essv5111670,essv5133940,essv5025229,essv5062689,essv5009529,essv5031123,essv5103399,essv5098439,essv5139392,essv5031481,essv5020659,essv5147302,essv5079058,essv5106834,essv5156282,essv5083067,essv5121199,essv5130262,essv5036900,essv5036934,essv5109353,essv5025675,essv5079334,essv5057454,essv5006040,essv5104763,essv5057947,essv5081116,essv5127414,essv5034998,essv5120433,essv5131484,essv5129963,essv5017494,essv5046446,essv5030384,essv5059604,essv5038280,essv5057679,essv5047667,essv5080776,essv5082666,essv5154451,essv5152767,essv5053797,essv5016455,essv5155433,essv5114047,essv5009215,essv5136616,essv5137591,essv5039662,essv5017206,essv5093625,essv5115074,essv5040278,essv5119034,essv5157921,essv5049029,essv5039448,essv5091042,essv5079606,essv5061522,essv5058226,essv5108159,essv5115591,essv5151742,essv5153723,essv5072942,essv5075070,essv5073966,essv5062332,essv5071887,essv5073292,essv5046041,essv5141495,essv5089326,essv5055468,essv5057900,essv5075530,essv5086317,essv5070670,essv5099173,essv5121193,essv5060535,essv5045066,essv5111455,essv5009416,essv5084366,essv5057643,essv5133614,essv5026440,essv5140441,essv5059533,essv5028535,essv5056266,essv5065390,essv5075700,essv5126100,essv5029346,essv5075197,essv5134013,essv5007457,essv5154012,essv5006842,essv5118781,essv5014756,essv5024778,essv5137446,essv5078168,essv5119537,essv5112147,essv5112018,essv5043078,essv5138603,essv5113690,essv5012198,essv5112463,essv5072845,essv5069258,essv5085764,essv5065361,essv5034932,essv5090494,essv5043947,essv5108354,essv5148113,essv5015595,essv5036953,essv5124711,essv5023263,essv5037955,essv5101262,essv5101928,essv5002968,essv5102301,essv5092530,essv5105497,essv5063418,essv5058888,essv5126226,essv5150112,essv5028268,essv5041583,essv5124388,essv5022489,essv5058463,essv5139220,essv5156581,essv5009281,essv5133338,essv5042322,essv5042805,essv5082971,essv5045506,essv5072749,essv5154407,essv5041396,essv5024926,essv5095489,essv5081591,essv5152785,essv5022465,essv5011084,essv5120729,essv5133740,essv5039648,essv5030618,essv5023885,essv5050148,essv5054947,essv5041310,essv5058448,essv5142553,essv5123664,essv5148158,essv5043348,essv5124050,essv5023124,essv5051027,essv5057517,essv5039709,essv5061980,essv5134172,essv5126696,essv5054299,essv5017093,essv5037918,essv5125269,essv5083683,essv5152585,essv5061703,essv5047090,essv5109488,essv5081678,essv5091865,essv5092624,essv5037056,essv5132555,essv5090241,essv5151766,essv5134902,essv5093900,essv5020483,essv5049686,essv5108540,essv5119100,essv5098355,essv5011088,essv5129460,essv5088714,essv5145795,essv5153758,essv5116813,essv5020240,essv5155943,essv5141507,essv5141833,essv5110778,essv5120358,essv5013778,essv5119419,essv5129995,essv5106632,essv5110564,essv5006428,essv5127428,essv5010021,essv5135308,essv5121151,essv5068244,essv5036216,essv5123806,essv5138521,essv5129577,essv5004813,essv5158420,essv5005255,essv5021355,essv5086617,essv5105072,essv5160667,essv5009035,essv5143417,essv5127280,essv5150769,essv5058233,essv5095844,essv5120398,essv5028472,essv5065241,essv5146116,essv5112656,essv5009662,essv5055990,essv5125305,essv5154453,essv5157345,essv5101823,essv5023950,essv5037219,essv5089724,essv5131421,essv5034079,essv5121117,essv5097233,essv5060321,essv5062191,essv5041220,essv5110181,essv5075173,essv5068617,essv5032771,essv5116185,essv5114283,essv5124673,essv5025065,essv5079891,essv5016046,essv5077726,essv5109024,essv5158358,essv5150984,essv5103925,essv5160408,essv5009495,essv5079118,essv5086867,essv5107596,essv5043725,essv5018284,essv5057892,essv5133198,essv5023741,essv5142109,essv5146437,essv5064366,essv5158505,essv5023909,essv5140522,essv5074347,essv5123811,essv5076305,essv5030061,essv5154269,essv5094545,essv5085158,essv5102449,essv5101815,essv5079042,essv5091416,essv5055945,essv5039500,essv5029615,essv5073781,essv5024281,essv5078641,essv5079251,essv5119555,essv5125601,essv5038369,essv5076870,essv5004405,essv5034469,essv5035255,essv5050628,essv5096721,essv5108894,essv5077222,essv5101253,essv5101197,essv5098373,essv5137536,essv5106570,essv5160542,essv5039829,essv5081575,essv5143182,essv5081347,essv5041309,essv5063813,essv5078889,essv5153010,essv5067740,essv5049573,essv5115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M 1184 0 875 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10852,NA10853,NA10854,NA10855,NA10859,NA10861,NA10863,NA10864,NA10865,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA12003,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12400,NA12413,NA12546,NA12707,NA12716,NA12718,NA12740,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12776,NA12777,NA12801,NA12802,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12889,NA12891,NA12892,NA17962,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17982,NA17983,NA17986,NA17988,NA17993,NA17995,NA17996,NA17998,NA17999,NA18102,NA18105,NA18106,NA18108,NA18114,NA18117,NA18122,NA18125,NA18127,NA18131,NA18132,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18146,NA18147,NA18148,NA18152,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18488,NA18497,NA18498,NA18499,NA18503,NA18504,NA18505,NA18506,NA18507,NA18510,NA18517,NA18518,NA18520,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18548,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18564,NA18571,NA18577,NA18579,NA18582,NA18592,NA18593,NA18596,NA18599,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18617,NA18620,NA18621,NA18622,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18647,NA18670,NA18674,NA18682,NA18689,NA18694,NA18696,NA18704,NA18745,NA18748,NA18749,NA18757,NA18852,NA18854,NA18858,NA18859,NA18860,NA18861,NA18862,NA18867,NA18868,NA18869,NA18870,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18947,NA18948,NA18951,NA18952,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18987,NA18990,NA18991,NA18993,NA18997,NA18998,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19041,NA19046,NA19054,NA19055,NA19056,NA19057,NA19059,NA19060,NA19062,NA19066,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19083,NA19085,NA19086,NA19087,NA19088,NA19096,NA19097,NA19099,NA19107,NA19108,NA19109,NA19114,NA19115,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19175,NA19178,NA19179,NA19180,NA19181,NA19183,NA19184,NA19185,NA19186,NA19190,NA19191,NA19198,NA19199,NA19200,NA19201,NA19202,NA19206,NA19208,NA19209,NA19210,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19226,NA19235,NA19236,NA19237,NA19239,NA19240,NA19256,NA19257,NA19258,NA19308,NA19310,NA19311,NA19314,NA19315,NA19316,NA19319,NA19321,NA19324,NA19327,NA19332,NA19346,NA19347,NA19350,NA19359,NA19360,NA19371,NA19372,NA19375,NA19376,NA19377,NA19379,NA19382,NA19383,NA19385,NA19390,NA19393,NA19394,NA19396,NA19397,NA19399,NA19404,NA19428,NA19429,NA19430,NA19434,NA19435,NA19437,NA19440,NA19443,NA19445,NA19446,NA19449,NA19451,NA19452,NA19457,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19472,NA19625,NA19650,NA19651,NA19653,NA19654,NA19656,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19675,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19704,NA19711,NA19712,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19724,NA19725,NA19746,NA19747,NA19748,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19780,NA19781,NA19783,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA20126,NA20279,NA20281,NA20284,NA20288,NA20289,NA20290,NA20294,NA20297,NA20302,NA20317,NA20319,NA20322,NA20333,NA20334,NA20335,NA20337,NA20341,NA20342,NA20344,NA20345,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20542,NA20543,NA20581,NA20586,NA20589,NA20752,NA20754,NA20757,NA20758,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20799,NA20800,NA20802,NA20805,NA20808,NA20809,NA20810,NA20811,NA20813,NA20815,NA20816,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20898,NA20899,NA20900,NA20901,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21092,NA21094,NA21097,NA21098,NA21099,NA21101,NA21103,NA21105,NA21106,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21314,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21367,NA21370,NA21371,NA21378,NA21379,NA21381,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21417,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21439,NA21441,NA21442,NA21447,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21479,NA21485,NA21486,NA21487,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21523,NA21524,NA21525,NA21529,NA21573,NA21577,NA21578,NA21580,NA21582,NA21583,NA21596,NA21597,NA21599,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21617,NA21619,NA21620,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21723,NA21733,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv514682 12 9528449 9595559 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628130 S 1414 0 1 "" dgv268n67 12 9531693 9549883 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826235,nsv826234 M 31 2 0 "" NA18582,NA18999 dgv472e1 12 9532468 9604705 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4931,essv19873,essv21491 M 271 0 0 "" NA11881,NA12003,NA18537 dgv473e1 12 9532468 9634923 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14838,essv10709,essv21935,essv10182,essv25122,essv24636,essv17398,essv12068,essv11328,essv10613,essv22738,essv15925,essv12046,essv13218,essv12018,essv9572,essv12865,essv24192,essv14654,essv20838,essv2756,essv23115,essv19485,essv18532,essv13311,essv9291,essv11597,essv7959,essv6113,essv11475,essv21912,essv24553,essv16369,essv21748,essv24348,essv23693,essv15439,essv5875,essv9263,essv19027,essv5078,essv13337,essv8017,essv17989,essv9866,essv12438,essv7463,essv7980,essv13976,essv12147,essv7500,essv7906,essv16172,essv19127 M 271 0 0 "" NA07034,NA07056,NA10838,NA10839,NA10846,NA10856,NA10861,NA11829,NA11831,NA12005,NA12043,NA12044,NA12057,NA12239,NA12740,NA12750,NA12763,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18516,NA18561,NA18562,NA18570,NA18573,NA18633,NA18852,NA18855,NA18856,NA18871,NA19000,NA19098,NA19116,NA19119,NA19120,NA19128,NA19137,NA19141,NA19144,NA19145,NA19152,NA19172,NA19203,NA19205,NA19206,NA19207,NA19211,NA19238,NA19239,NA19240 dgv269n67 12 9543119 9549883 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826236,nsv826237 M 31 5 0 "" AK4,NA18537,NA18552,NA18592,NA18949 nsv826238 12 9554981 9613274 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426963 S 31 0 1 "" AK6 nsv898754 12 9587954 9646845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552420,nssv1557471,nssv1596859 M 6533 0 3 KLRB1 IS40657,MS19414,MS22705 nsv433519 12 9607393 9616735 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463400 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv1248080 12 9613320 9613400 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361262 S 2 0 1 "" HuRef esv1441433 12 9614354 9614434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044019 S 2 0 1 "" HuRef nsv516258 12 9628505 9632767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667119,nssv659293 M 2026 0 2 "" essv5635 12 9631521 9702031 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KLRB1,LOC374443 NA18579 essv6453 12 9634553 9664499 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KLRB1 NA18592 nsv8909 12 9646154 9649961 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20835,nssv20987,nssv20246,nssv23889,nssv20554 M 31 5 0 Samples from several populations that are part of the HapMap project. KLRB1 NA10839,NA18537,NA18563,NA18972,NA19007 esv260059 12 9648227 9649636 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397889,essv2395483,essv2398161 M 144 0 0 Samples from several populations that are part of the HapMap project. KLRB1 NA18907,NA18948,NA18949 nsv603 12 9649176 9681330 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5401 S 9 1 0 KLRB1 NA19129 dgv474e1 12 9747225 9779820 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14824,essv13409 M 271 0 0 CLECL1 NA18870,NA18872 nsv442255 12 9753345 9766191 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8910 12 9757260 9763776 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25628 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv2651553 12 9761627 9762692 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188756 S 1 1 0 "" NA18507 esv268379 12 9762392 9762739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517055,essv2514086,essv2518815,essv2515379,essv2515050,essv2516604,essv2515634,essv2514422,essv2517671,essv2516242,essv2515204,essv2518311,essv2519427 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA12043,NA12045,NA12249,NA12812,NA12814,NA12815,NA12874,NA12878,NA12891,NA19238,NA19240 esv274380 12 9762397 9762734 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582122,essv2582640,essv2584213,essv2583358 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 nsv8911 12 9787167 9788958 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23604 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv8912 12 9814952 9817587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21277 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv523050 12 9923147 10015640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698733 S 2026 0 1 CLEC12A,CLEC2A,KLRF2 nsv898755 12 9960569 10077551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596756 S 6533 0 1 CLEC12A,CLEC12B,CLEC1B,CLEC2A,CLEC9A IS40627 nsv525593 12 10012614 10047913 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701735 S 2026 0 1 CLEC12A,CLEC1B nsv898756 12 10033805 10065581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576178 S 6533 0 1 CLEC12B,CLEC1B IS33894 nsv604 12 10035306 10051707 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8999 S 9 0 1 CLEC1B NA12156 esv9698 12 10041927 10083370 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32139 S 1 0 0 CLEC12B,CLEC1B,CLEC9A SJK nsv524870 12 10100978 10111152 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700875 S 2026 1 0 CLEC9A nsv898757 12 10120548 10505908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513609 S 6533 1 0 C12orf59,CLEC1A,CLEC7A,GABARAPL1,KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1,OLR1 SP55804 esv2431271 12 10125014 10126054 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240588 S 1 1 0 CLEC1A NA18507 esv271248 12 10125436 10125764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576022,essv2540800,essv2571723,essv2546163,essv2521279,essv2525945,essv2542498,essv2522672,essv2544115,essv2570830,essv2556717,essv2568265,essv2545338,essv2523320,essv2531986,essv2577210,essv2570667,essv2548277,essv2521805,essv2576699,essv2550659,essv2525356,essv2535298,essv2554235,essv2544248,essv2552052,essv2520593,essv2547589,essv2529121,essv2558384,essv2564416,essv2577759,essv2553891,essv2559754,essv2565488,essv2576192,essv2520207,essv2564304,essv2554853,essv2530556,essv2561750,essv2537354,essv2528382,essv2546955,essv2539947,essv2520818,essv2557346,essv2557129,essv2552480,essv2551736,essv2532437,essv2569388,essv2550155,essv2558831,essv2536836,essv2538979,essv2527189,essv2561404,essv2523870,essv2542683,essv2540581,essv2524647,essv2564971,essv2534668,essv2539925,essv2519727,essv2559804,essv2532463,essv2528658,essv2567632,essv2541708,essv2553315,essv2559079,essv2566822,essv2542081,essv2551164,essv2569178,essv2543654,essv2556220,essv2527889,essv2562451,essv2578501,essv2573097,essv2566680,essv2527691,essv2555998,essv2534493,essv2531454,essv2543374,essv2573327,essv2572144,essv2526919,essv2575458,essv2575195,essv2538786,essv2526647,essv2524210,essv2560834,essv2574814,essv2568660,essv2545063,essv2560206,essv2549607,essv2571479,essv2546001,essv2574457,essv2551604,essv2535922,essv2538113,essv2548705,essv2533166,essv2554690,essv2547755,essv2525105,essv2563340 M 157 115 0 Samples from several populations that are part of the HapMap project. CLEC1A NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18537,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18566,NA18570,NA18576,NA18579,NA18582,NA18592,NA18605,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18942,NA18948,NA18952,NA18956,NA18959,NA18961,NA18965,NA18969,NA18973,NA19005,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273949 12 10125436 10125764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581799,essv2582757,essv2583139,essv2584148,essv2584459,essv2583453 M 7 6 0 Samples from several populations that are part of the HapMap project. CLEC1A NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1181821 12 10125469 10125469 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816941 S 2 1 0 CLEC1A HuRef esv2275947 12 10132096 10132539 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958409 S 1 0 1 CLEC1A NA18507 nsv826239 12 10135764 10140516 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430832 S 31 0 1 CLEC1A AK16 esv2287731 12 10190469 10190898 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992933 S 1 0 1 "" NA18507 nsv898758 12 10200744 10209764 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500454 S 6533 1 0 OLR1 SP50598 nsv520713 12 10253491 10255629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697570 S 2026 0 1 "" nsv527123 12 10255437 10255629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703506 S 2026 0 1 "" nsv832328 12 10289338 10511710 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449677 S 95 1 0 KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1 nsv605 12 10339905 10385475 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6491 S 9 0 1 KLRD1 NA12156 nsv898759 12 10345823 10474632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568698 S 6533 0 1 KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRD1,KLRK1 IS31330 dgv1370n71 12 10384249 10455596 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898762,nsv898760,nsv898761 M 6533 0 3 KLRC4,KLRC4-KLRK1,KLRK1 IS35229,IS40067,IS41113 nsv898763 12 10405795 10494937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500554 S 6533 0 1 KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRK1 SP50144 nsv8914 12 10423567 10553943 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23632,nssv25651,nssv19012,nssv18845,nssv20598,nssv23916,nssv20276 M 31 0 7 Samples from several populations that are part of the HapMap project. KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRK1 NA10847,NA18517,NA18564,NA18942,NA18972,NA19007,NA19221 dgv1371n71 12 10428536 10613852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898766,nsv898765,nsv898764 M 6533 0 3 KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1,KLRK1 IS39011,MS15199,MS22104 nsv606 12 10443899 10504166 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5402,nssv1981,nssv9278 M 9 0 3 KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1 NA18517,NA18555,NA19129 nsv898767 12 10445197 10513314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552533 S 6533 0 1 KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1 MS19487 nsv521062 12 10452224 10496212 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697763 S 2026 1 0 KLRC1,KLRC2,KLRC3,KLRC4,KLRC4-KLRK1 esv4003 12 10453858 10480372 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26444 S 1 0 1 Single Asian sample YH KLRC2,KLRC3,KLRC4-KLRK1 YH dgv1372n71 12 10456720 10491635 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898770,nsv898768,nsv898771 M 6533 0 8 KLRC1,KLRC2,KLRC3 SP50061,SP50977,SP51226,SP52717,SP54509,SP55637,SP55650,SP57485 nsv898769 12 10456720 10491635 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516081 S 6533 1 0 KLRC1,KLRC2,KLRC3 SP56396 esv25005 12 10457356 10495015 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12565 S 451 0 9 KLRC1,KLRC2,KLRC3 NA12239,NA12414,NA12749,NA18517,NA19099,NA19108,NA19114,NA19129,NA19147 dgv270n67 12 10464016 10490351 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826243,nsv826241,nsv826240 M 31 0 6 KLRC1,KLRC2,KLRC3 AK16,AK18,NA18542,NA18564,NA18566,NA18997 esv32543 12 10464047 10490286 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95197,essv101405,essv95297,essv97357,essv95852,essv94629,essv93606,essv93474,essv96511,essv100546,essv98471 M 51 0 11 KLRC1,KLRC2,KLRC3 21721,21805,21872,21879,21911,21932,21972,22128,22261,22298,22352 nsv435631 12 10464318 10478537 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466684 S 2 0 1 KLRC2,KLRC3 NA15510 esv8275 12 10471985 10487413 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30716 S 1 0 1 KLRC2 SJK nsv442633 12 10474634 10487386 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KLRC2 nsv514645 12 10479446 10485999 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628131 S 1414 1 0 KLRC2 nsv898772 12 10513314 10613852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574687 S 6533 0 1 "" IS33605 esv2426117 12 10520065 10522647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210499 S 1 0 1 "" NA18507 dgv1373n71 12 10552117 10627053 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898774,nsv898773,nsv898775 M 6533 0 9 "" IS31054,IS31225,IS31330,IS31369,IS31543,IS32615,IS35027,IS41043,SP57367 nsv523828 12 10566562 10589522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699659 S 2026 0 1 "" nsv832329 12 10568361 10737213 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449678 S 95 1 0 KLRAP1,MAGOHB,STYK1 esv2575322 12 10594478 10596051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175597 S 1 0 1 "" NA18507 esv2247882 12 10594567 10595263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682854 S 1 0 1 "" NA18507 nsv52694 12 10612499 10614216 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71272 M 24 "" esv25262 12 10612667 10614209 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20319 S 451 0 1 "" NA18517 esv995929 12 10622554 10624006 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564028 S 3 1 0 "" HuRef esv4222 12 10632874 10633068 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26663 S 1 0 1 Single Asian sample YH KLRAP1 YH nsv819308 12 10632881 10633050 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418926 S 2 0 1 KLRAP1 AK1 esv999821 12 10633386 10641216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564374 S 3 0 1 KLRAP1 HuRef nsv516351 12 10650756 10655312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688292,nssv691668,nssv690698,nssv688590,nssv658784,nssv663827,nssv693716,nssv657293,nssv677833,nssv652820,nssv680225,nssv690995,nssv658799,nssv682367,nssv658851,nssv681480,nssv655424,nssv683000,nssv662448,nssv695668,nssv680447,nssv674701 M 2026 0 22 MAGOHB nsv528941 12 10658065 10658147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705632 S 2026 0 1 "" nsv607 12 10668134 10712802 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9001 S 9 0 1 STYK1 NA12156 esv3537 12 10704243 10704553 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25978 S 1 0 1 Single Asian sample YH STYK1 YH esv1480871 12 10704334 10704507 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063942 S 2 0 1 STYK1 HuRef nsv527604 12 10711585 10712043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704066 S 2026 0 1 STYK1 nsv898776 12 10800679 10923312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600240 S 6533 0 1 PRH1-PRR4,PRR4,TAS2R10,TAS2R7,TAS2R8,TAS2R9 IS41862 esv2474817 12 10843809 10845019 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284353 S 1 0 1 "" NA18507 dgv475e1 12 10860887 11606188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8785,essv8220,essv24391,essv17476,essv13721,essv13596,essv11934,essv12829,essv12409,essv10301,essv17035,essv11697,essv10518,essv23774,essv23332,essv13071,esv863,essv8090,essv21383,essv9675,essv15874,essv21330,essv17750,essv22215 M 271 0 0 LOC100129361,LOC338817,PRB1,PRB2,PRB3,PRB4,PRH1,PRH1-PRR4,PRH2,PRR4,TAS2R10,TAS2R13,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50 NA10831,NA12044,NA12707,NA12740,NA12750,NA12762,NA12763,NA12878,NA18502,NA18506,NA18508,NA18852,NA18913,NA19116,NA19119,NA19120,NA19127,NA19144,NA19154,NA19206,NA19223,NA19238,NA19240 esv1006217 12 10864990 10864990 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579846 S 3 1 0 "" HuRef esv1316187 12 10865009 10865009 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050288 S 2 1 0 "" HuRef esv1010712 12 10926345 10926407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582563 S 3 0 1 PRH1,PRH1-PRR4 HuRef esv1361137 12 10926388 10926451 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832817 S 2 0 1 PRH1,PRH1-PRR4 HuRef nsv898777 12 10936779 11020700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531879 S 6533 0 1 PRH1-PRR4,PRH2,TAS2R13,TAS2R14 MS10686 esv4169 12 10959278 10959627 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26610 S 1 0 1 Single Asian sample YH PRH1-PRR4 YH esv998570 12 10959313 10959565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577185 S 3 0 1 PRH1-PRR4 HuRef essv11102 12 10961112 11122296 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PRH1-PRR4,PRH2,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R46,TAS2R50 NA19211 dgv476e1 12 10961112 11436808 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19008,essv9218,essv16536,essv19583,essv17152,essv16198 M 271 0 0 LOC100129361,PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,PRH2,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50 NA12005,NA12864,NA19128,NA19161,NA19171,NA19210 nsv428272 12 10961112 11606188 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452266,nssv452268,nssv452265,nssv452267,nssv452270,nssv452263,nssv452269,nssv452262 M 62 2 6 LOC100129361,LOC338817,PRB1,PRB2,PRB3,PRB4,PRH1-PRR4,PRH2,TAS2R14,TAS2R19,TAS2R20,TAS2R30,TAS2R31,TAS2R42,TAS2R43,TAS2R46,TAS2R50 HGDP00460,HGDP00471,HGDP01087,NA18916,NA19096,NA19108,NA19181,NA19257 nsv832330 12 10968945 11098224 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449680,nssv1449679,nssv1449681 M 95 3 0 PRH1-PRR4,PRH2,TAS2R14,TAS2R19,TAS2R20,TAS2R31,TAS2R50 nsv898778 12 10999548 11056661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588378 S 6533 0 1 PRH1-PRR4,TAS2R20,TAS2R50 IS38185 nsv898779 12 11025968 11065543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601142 S 6533 0 1 PRH1-PRR4,TAS2R19,TAS2R20,TAS2R50 IS41973 esv26197 12 11033424 11060725 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21271,esv10376,esv16164 M 451 7 0 PRH1-PRR4,TAS2R20 NA11931,NA11993,NA12749,NA12776,NA18502,NA18511,NA19190 esv8289 12 11035715 11113507 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30730 S 1 0 1 PRH1-PRR4,TAS2R19,TAS2R20,TAS2R31,TAS2R46 SJK nsv898780 12 11036261 11142827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516698 S 6533 0 1 PRH1-PRR4,TAS2R19,TAS2R20,TAS2R31,TAS2R43,TAS2R46 SP56913 nsv8915 12 11037861 11039856 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23660,nssv19442 M 31 2 0 Samples from several populations that are part of the HapMap project. PRH1-PRR4,TAS2R20 NA07029,NA18517 nsv516631 12 11045061 11047313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669704,nssv673046 M 2026 0 2 PRH1-PRR4 nsv8916 12 11053325 11056361 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21129 S 31 1 0 Samples from several populations that are part of the HapMap project. PRH1-PRR4 NA12740 dgv35e19 12 11058654 11119599 CNV Loss Ahn et al 2009 19470904 Sequencing esv8805,esv6198,esv7343,esv6546 M 1 0 1 PRH1-PRR4,TAS2R19,TAS2R31,TAS2R46 SJK nsv8917 12 11059499 11185014 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20390,nssv22809,nssv23434,nssv20628,nssv21337,nssv20476,nssv24106,nssv21307,nssv19884,nssv18460,nssv21159,nssv21718,nssv25673,nssv22838,nssv18581,nssv19472,nssv18400,nssv21458,nssv20226,nssv23745,nssv25695,nssv23561,nssv22885,nssv20584,nssv23589,nssv20614,nssv23718,nssv20969,nssv20450,nssv20360,nssv23617,nssv19502 M 31 0 21 Samples from several populations that are part of the HapMap project. PRH1-PRR4,TAS2R19,TAS2R30,TAS2R31,TAS2R43,TAS2R46 NA07029,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18552,NA18564,NA18853,NA18860,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 esv24685 12 11061830 11083613 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12327,esv16159 M 451 0 2 PRH1-PRR4,TAS2R19,TAS2R31 NA07037,NA11931 nsv514646 12 11065498 11066488 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627116 S 1414 0 0 PRH1-PRR4,TAS2R19 esv270604 12 11070268 11070590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517465,essv2515334,essv2518154,essv2517338,essv2519383,essv2513625 M 157 6 0 Samples from several populations that are part of the HapMap project. PRH1-PRR4 NA07346,NA07347,NA11918,NA12249,NA12872,NA18970 nsv436149 12 11075012 11142362 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466685 S 2 0 1 Samples from several populations that are part of the HapMap project. PRH1-PRR4,TAS2R31,TAS2R43,TAS2R46 NA18505 nsv898781 12 11076503 11142827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515184 S 6533 0 1 PRH1-PRR4,TAS2R43,TAS2R46 SP56132 nsv898782 12 11076503 11175030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514457 S 6533 0 1 PRH1-PRR4,TAS2R43,TAS2R46 SP56004 dgv1374n71 12 11076503 11232788 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898783,nsv898784 M 6533 0 2 LOC100129361,PRH1-PRR4,TAS2R30,TAS2R42,TAS2R43,TAS2R46 IS31553,IS35911 esv7358 12 11083675 11109476 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29799 S 1 0 1 PRH1-PRR4,TAS2R46 SJK dgv36e19 12 11095568 11180865 CNV Loss Ahn et al 2009 19470904 Sequencing esv6373,esv5827,esv8675 M 1 0 1 PRH1-PRR4,TAS2R30,TAS2R43,TAS2R46 SJK esv1011370 12 11097385 11099529 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565218 S 3 1 0 PRH1-PRR4 HuRef nsv513355 12 11098853 11098978 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625748 S 1 1 0 PRH1-PRR4 1 dgv271n67 12 11107690 11141540 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826247,nsv826246,nsv826244,nsv826245,nsv826249,nsv826248 M 31 0 8 PRH1-PRR4,TAS2R43 AK14,AK8,NA18552,NA18564,NA18582,NA18592,NA18951,NA18969 nsv820968 12 11109242 11122513 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420987 S 1 1 0 PRH1-PRR4 NA10851 esv23283 12 11109242 11141947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14291,esv19668 M 451 0 27 PRH1-PRR4,TAS2R43 NA07037,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 esv33303 12 11109590 11112629 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101461,essv97859,essv95328 M 51 3 0 PRH1-PRR4 21603,21837,21872 esv273800 12 11110319 11110575 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580700,essv2579742 M 7 2 0 Samples from several populations that are part of the HapMap project. PRH1-PRR4 NA19238,NA19240 esv270456 12 11110419 11110577 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510111,essv2511062,essv2495480,essv2495277,essv2504426,essv2507998,essv2513135,essv2510352,essv2495864,essv2503431,essv2508575,essv2502590,essv2503783,essv2493438,essv2505053,essv2508797,essv2500296,essv2502848,essv2510573,essv2494300,essv2504166,essv2509050,essv2498318,essv2500386,essv2494566,essv2497212,essv2497806,essv2499900,essv2504556,essv2507928,essv2511274,essv2512641,essv2508176,essv2510071,essv2496110,essv2499276,essv2513308,essv2509282,essv2511641,essv2511155,essv2503498,essv2502419,essv2493086,essv2509392,essv2495929,essv2495142,essv2500734,essv2501470,essv2504692,essv2493497,essv2497653,essv2493873,essv2501899,essv2498052,essv2502066,essv2495752,essv2503879,essv2495083,essv2511498,essv2504380,essv2513108 M 157 61 0 Samples from several populations that are part of the HapMap project. PRH1-PRR4 NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11829,NA11831,NA11919,NA11992,NA11993,NA12003,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18522,NA18526,NA18537,NA18550,NA18552,NA18555,NA18562,NA18563,NA18564,NA18570,NA18577,NA18579,NA18593,NA18603,NA18605,NA18907,NA18909,NA18940,NA18944,NA18947,NA18948,NA18951,NA18953,NA18961,NA18964,NA18973,NA19093,NA19099,NA19137,NA19147,NA19210,NA19239,NA19240,NA19257 esv2421542 12 11110698 11142827 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117447,essv5086329,essv5136247,essv5067476,essv5106403,essv5111746,essv5107106,essv5008792,essv5121191,essv5029606,essv5085226,essv5075539,essv5026720,essv5123597,essv5060686,essv5020367,essv5154165,essv5017814,essv5064363,essv5073472,essv5026370,essv5100298,essv5020755,essv5033748,essv5083588,essv5079780,essv5074459,essv5153085,essv5069277,essv5083824,essv5156580,essv5090992,essv5048292,essv5093232,essv5040180,essv5091407,essv5135324,essv5064681,essv5147053,essv5040431,essv5022642,essv5081422,essv5013888,essv5005232,essv5151287,essv5008594,essv5054262,essv5039691,essv5041768,essv5006181,essv5082759,essv5011894,essv5093291,essv5015591,essv5034196,essv5072875,essv5108375,essv5024014,essv5146762,essv5101975,essv5063822,essv5113709,essv5057167,essv5007172,essv5060959,essv5137332,essv5025682,essv5010428,essv5133914,essv5002893,essv5005686,essv5125676,essv5078371,essv5037493,essv5030890,essv5047310,essv5061674,essv5007351,essv5136981,essv5005126,essv5073830,essv5008584,essv5061778,essv5058125,essv5063442,essv5074686,essv5033156,essv5024809,essv5039983,essv5157434,essv5150591,essv5044923,essv5116606,essv5021033,essv5039289,essv5073593,essv5119140,essv5059053,essv5121852,essv5037566,essv5082647,essv5139772,essv5022953,essv5156023,essv5044519,essv5052763,essv5103530,essv5137085,essv5058280,essv5122115,essv5131519,essv5126363,essv5102752,essv5141206,essv5047541,essv5116764,essv5107423,essv5041753,essv5052398,essv5147870,essv5076353,essv5089091,essv5050441,essv5021789,essv5006883,essv5027899,essv5065795,essv5132092,essv5018212,essv5091895,essv5127042,essv5028151,essv5036733,essv5036249,essv5099666,essv5009599,essv5154811,essv5080662,essv5138782,essv5042804,essv5070889,essv5103065,essv5045594,essv5127127,essv5133267,essv5081175,essv5057500,essv5090607,essv5124967,essv5028435,essv5088462,essv5028341,essv5139167,essv5020935,essv5098249,essv5068177,essv5072565,essv5059072,essv5022243,essv5041370,essv5102384,essv5109692,essv5050252,essv5114013,essv5109085,essv5008298,essv5103070,essv5042707,essv5064495,essv5029319,essv5103090,essv5093568,essv5004354,essv5038828,essv5158287,essv5050361,essv5130249,essv5021858,essv5110694,essv5056795,essv5069918,essv5060244,essv5030362,essv5123817,essv5132741,essv5139751,essv5133348,essv5114956,essv5160752,essv5154756,essv5130079,essv5160870,essv5046351,essv5074901,essv5111677,essv5146785,essv5131910,essv5090056,essv5119631,essv5034876,essv5126764,essv5115248,essv5056723,essv5156717,essv5122116,essv5034336,essv5016100,essv5058294,essv5092569,essv5057636,essv5021237,essv5015033,essv5129534,essv5119706,essv5061684,essv5026467,essv5066719,essv5072295,essv5118375,essv5023639,essv5131100,essv5036921,essv5145388,essv5047900,essv5134042,essv5041929,essv5094104,essv5084151,essv5108569,essv5117918,essv5069783,essv5149593,essv5068657,essv5072996,essv5106376,essv5102110,essv5034599,essv5019362,essv5067700,essv5073875,essv5144683,essv5058555,essv5008109,essv5092303,essv5078595,essv5100696,essv5032655,essv5009547,essv5072156,essv5114567,essv5137294,essv5033027,essv5097382,essv5122514,essv5100618,essv5139078,essv5025134,essv5004380,essv5122616,essv5006326,essv5088883,essv5139386,essv5064525,essv5092919,essv5007774,essv5005112,essv5063872,essv5140880,essv5056229,essv5069498,essv5004064,essv5056367,essv5036959,essv5099798,essv5081959,essv5080972,essv5134691,essv5091341,essv5023961,essv5091631,essv5152865,essv5068327,essv5134109,essv5140659,essv5142190,essv5141673,essv5050685,essv5028893,essv5139869,essv5005483,essv5042941,essv5126669,essv5159130,essv5019874,essv5011266,essv5072379,essv5122743,essv5114038,essv5131163,essv5022332,essv5118697,essv5032914,essv5113335,essv5032277,essv5090356,essv5123579,essv5005165,essv5040124,essv5038390,essv5118074,essv5042631,essv5025552,essv5040340,essv5057398,essv5139517,essv5131562,essv5034031,essv5116015,essv5015722,essv5103747,essv5077044,essv5156395,essv5107772,essv5120327,essv5132217,essv5112604,essv5019252,essv5048349,essv5093490,essv5090156,essv5160645,essv5086717,essv5139808,essv5154285,essv5110939,essv5019749,essv5155758,essv5137499,essv5023559,essv5124535,essv5157098,essv5102653,essv5104790,essv5008368,essv5050874,essv5029941,essv5075656,essv5153670,essv5136526,essv5048450,essv5035456,essv5040783,essv5088554,essv5138687,essv5132930,essv5013679,essv5011663,essv5123263,essv5013188,essv5022313,essv5060552,essv5136428,essv5126918,essv5160883,essv5063333,essv5139304,essv5003227,essv5038731,essv5136978,essv5056727,essv5118815,essv5013648,essv5044762,essv5091181,essv5117444,essv5095984,essv5023234,essv5088590,essv5036850,essv5066981,essv5110266,essv5160377,essv5105171,essv5141939,essv5065844,essv5093535,essv5142038,essv5084215,essv5047737,essv5115219,essv5095462,essv5047750,essv5120190,essv5034950,essv5070188,essv5114089,essv5158263,essv5111412,essv5051016,essv5107878,essv5147213,essv5141572,essv5127522,essv5110012,essv5024087,essv5065525,essv5102367,essv5145193,essv5077975,essv5145332,essv5134669,essv5078194,essv5053416,essv5002393,essv5076647,essv5107705,essv5141764,essv5014002,essv5018716,essv5141435,essv5026274,essv5154248,essv5147780,essv5036471,essv5110937,essv5058356,essv5070496,essv5012780,essv5124268,essv5063474,essv5095237,essv5023621,essv5092250,essv5116434,essv5088233,essv5070878,essv5036276,essv5072803,essv5011111,essv5088359,essv5009831,essv5136710,essv5112314,essv5054408,essv5058313,essv5097664,essv5069112,essv5160458,essv5042533,essv5048848,essv5086463,essv5074182,essv5062997,essv5063386,essv5055410,essv5140502,essv5100652,essv5083195,essv5116210,essv5014127,essv5076467,essv5083930,essv5036671,essv5071452,essv5119359,essv5074708,essv5009050,essv5041059,essv5047568,essv5127964,essv5121570,essv5159505,essv5042338,essv5028781,essv5111082,essv5055817,essv5136573,essv5139688,essv5096330,essv5058505,essv5047022,essv5038857,essv5149454,essv5134081,essv5062671,essv5067006,essv5068972,essv5090164,essv5099451,essv5039383,essv5085820,essv5041948,essv5089900,essv5068069,essv5153176,essv5099556,essv5079763,essv5034094,essv5055216,essv5122733,essv5029804,essv5043143,essv5083454,essv5111367,essv5092120,essv5031487,essv5133930,essv5120849,essv5099367,essv5135843,essv5047656,essv5005834,essv5029668,essv5135616,essv5057441,essv5131583,essv5139448,essv5075617,essv5106031,essv5032441,essv5007550,essv5098247,essv5023096,essv5105865,essv5074137,essv5022082,essv5062995,essv5078812,essv5013469,essv5149464,essv5150988,essv5135998,essv5006295,essv5022788,essv5128974,essv5146232,essv5031802,essv5064885,essv5143406,essv5013557,essv5106773,essv5045472,essv5150672,essv5067579,essv5152071,essv5061720,essv5137806,essv5053460,essv5044117,essv5143544,essv5134501,essv5016526,essv5102702,essv5083080,essv5002801,essv5094829,essv5100221,essv5126474,essv5113704,essv5069483,essv5149890,essv5156453,essv5072887,essv5035951,essv5146600,essv5014068,essv5086902,essv5115767,essv5058936,essv5108218,essv5160974,essv5161030,essv5111339,essv5142550,essv5023305,essv5012157,essv5069855,essv5013402,essv5029183,essv5127076,essv5031721,essv5074610,essv5076978,essv5062880,essv5121581,essv5056327,essv5074101,essv5054439,essv5111718,essv5040244,essv5093433,essv5161122,essv5144891,essv5153971,essv5012608,essv5052521,essv5012011,essv5014411,essv5063148,essv5063355,essv5083363,essv5108094,essv5139599,essv5076731,essv5078219,essv5122856,essv5060401,essv5029609,essv5053617,essv5097785,essv5048746,essv5060307,essv5089265,essv5004602,essv5057173,essv5133651,essv5152131,essv5126303,essv5115257,essv5068940,essv5104190,essv5092972,essv5052193,essv5069769,essv5145133,essv5137741,essv5087460,essv5029770,essv5036209,essv5160631,essv5151625,essv5018106,essv5133733,essv5083833,essv5077367,essv5019040,essv5017518,essv5148287,essv5022377,essv5083745,essv5141103,essv5050272,essv5092993,essv5064588,essv5124139,essv5082649,essv5105726,essv5010624,essv5095605,essv5158178,essv5160157,essv5108125,essv5010887,essv5062827,essv5050608,essv5118789,essv5122697,essv5129703,essv5113259,essv5068335,essv5060549,essv5102721,essv5082630,essv5120182,essv5063026,essv5023711,essv5090657,essv5094895,essv5089365,essv5036266,essv5021804,essv5033865,essv5019246,essv5132865,essv5032389,essv5009791,essv5071305,essv5139340,essv5088855 M 1184 0 679 PRH1-PRR4,TAS2R43 NA06984,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07037,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA10830,NA10831,NA10835,NA10839,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12273,NA12275,NA12282,NA12283,NA12286,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12375,NA12386,NA12399,NA12400,NA12413,NA12707,NA12708,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12752,NA12753,NA12761,NA12762,NA12763,NA12776,NA12777,NA12802,NA12812,NA12814,NA12815,NA12818,NA12827,NA12829,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12877,NA12878,NA12889,NA12891,NA12892,NA17962,NA17970,NA17976,NA17981,NA17993,NA17995,NA17999,NA18101,NA18102,NA18108,NA18118,NA18120,NA18122,NA18128,NA18132,NA18134,NA18135,NA18136,NA18138,NA18143,NA18144,NA18151,NA18155,NA18157,NA18162,NA18485,NA18487,NA18488,NA18497,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18509,NA18515,NA18516,NA18517,NA18519,NA18520,NA18524,NA18543,NA18545,NA18546,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18564,NA18571,NA18576,NA18582,NA18592,NA18594,NA18599,NA18605,NA18608,NA18611,NA18616,NA18617,NA18618,NA18619,NA18624,NA18628,NA18630,NA18631,NA18634,NA18635,NA18636,NA18638,NA18639,NA18641,NA18670,NA18682,NA18685,NA18749,NA18852,NA18854,NA18857,NA18858,NA18860,NA18862,NA18863,NA18867,NA18871,NA18873,NA18875,NA18909,NA18910,NA18911,NA18912,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18940,NA18943,NA18945,NA18948,NA18951,NA18952,NA18953,NA18954,NA18967,NA18969,NA18970,NA18971,NA18975,NA18990,NA18994,NA18995,NA19002,NA19009,NA19027,NA19028,NA19031,NA19036,NA19038,NA19044,NA19054,NA19056,NA19058,NA19064,NA19066,NA19067,NA19068,NA19075,NA19078,NA19083,NA19084,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19114,NA19115,NA19116,NA19118,NA19122,NA19127,NA19129,NA19130,NA19137,NA19139,NA19140,NA19142,NA19146,NA19148,NA19150,NA19152,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19176,NA19178,NA19180,NA19181,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19209,NA19210,NA19211,NA19214,NA19215,NA19221,NA19222,NA19223,NA19225,NA19226,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19311,NA19313,NA19314,NA19317,NA19321,NA19328,NA19332,NA19334,NA19347,NA19352,NA19360,NA19371,NA19372,NA19375,NA19376,NA19377,NA19381,NA19384,NA19385,NA19391,NA19394,NA19396,NA19399,NA19403,NA19404,NA19428,NA19430,NA19434,NA19439,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19456,NA19457,NA19466,NA19468,NA19472,NA19473,NA19474,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19660,NA19663,NA19664,NA19665,NA19669,NA19671,NA19676,NA19678,NA19679,NA19685,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19711,NA19713,NA19714,NA19716,NA19719,NA19722,NA19723,NA19724,NA19725,NA19746,NA19747,NA19748,NA19749,NA19756,NA19757,NA19759,NA19760,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19775,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19794,NA19796,NA19818,NA19819,NA19828,NA19834,NA19836,NA19900,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19983,NA19985,NA20126,NA20128,NA20129,NA20276,NA20277,NA20281,NA20287,NA20289,NA20290,NA20295,NA20322,NA20332,NA20333,NA20335,NA20340,NA20341,NA20342,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20364,NA20504,NA20508,NA20509,NA20510,NA20517,NA20518,NA20519,NA20521,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20534,NA20539,NA20540,NA20541,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20757,NA20760,NA20761,NA20765,NA20766,NA20769,NA20772,NA20773,NA20774,NA20775,NA20792,NA20795,NA20800,NA20801,NA20802,NA20803,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20816,NA20818,NA20819,NA20826,NA20845,NA20850,NA20851,NA20858,NA20861,NA20866,NA20869,NA20872,NA20873,NA20876,NA20877,NA20883,NA20887,NA20890,NA20892,NA20894,NA20903,NA20906,NA20909,NA20910,NA21086,NA21089,NA21097,NA21098,NA21101,NA21103,NA21106,NA21108,NA21109,NA21117,NA21118,NA21119,NA21142,NA21144,NA21295,NA21302,NA21307,NA21309,NA21313,NA21314,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21356,NA21362,NA21363,NA21368,NA21370,NA21371,NA21378,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21424,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21475,NA21476,NA21477,NA21478,NA21485,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21513,NA21519,NA21520,NA21522,NA21523,NA21526,NA21527,NA21529,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21597,NA21599,NA21608,NA21613,NA21614,NA21616,NA21617,NA21620,NA21632,NA21647,NA21648,NA21650,NA21682,NA21686,NA21689,NA21693,NA21722,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21826 nsv442634 12 11113633 11132799 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRH1-PRR4 nsv514647 12 11121335 11130930 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628132 S 1414 0 0 PRH1-PRR4 nsv511013 12 11122638 11178984 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621614,nssv624332,nssv622389 M 4 0 0 PRH1-PRR4,TAS2R30,TAS2R43 NA10860,NA15510,NA18994 esv2421447 12 11122722 11142827 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5081373,essv5051124,essv5047535,essv5034010,essv5063750,essv5113028,essv5160087,essv5129173,essv5033334,essv5124454,essv5002689,essv5020425,essv5137028,essv5136101,essv5030741,essv5147247,essv5020078,essv5117793,essv5143027,essv5096511,essv5087847,essv5129607,essv5114144,essv5144632,essv5005092,essv5141116,essv5012063,essv5119208,essv5093957,essv5053072,essv5149644,essv5139031,essv5115529,essv5037655,essv5064308,essv5050590,essv5092856,essv5105929,essv5127027,essv5012861,essv5142296,essv5160935,essv5056101,essv5079768,essv5071428,essv5063517,essv5160834,essv5051067,essv5109535,essv5124882,essv5041568,essv5091123,essv5095737,essv5088255,essv5039299,essv5150499,essv5029454,essv5120874,essv5052468,essv5144972,essv5039350,essv5044700,essv5067490,essv5069553,essv5128921,essv5028143,essv5083156,essv5027927,essv5158568,essv5142124,essv5127849,essv5110172,essv5157041,essv5132890,essv5080312,essv5119225,essv5085647,essv5129925,essv5070184,essv5093421,essv5160113,essv5089992,essv5061327,essv5134060,essv5039845,essv5051858,essv5038814,essv5120947,essv5094779,essv5144723,essv5042760,essv5155952,essv5111828,essv5045264,essv5122608,essv5093554,essv5048425,essv5129958,essv5115603,essv5054918,essv5019710,essv5005424,essv5011810,essv5083072,essv5157152,essv5080643,essv5062160,essv5039349,essv5147562,essv5057078,essv5091647,essv5054140,essv5105436,essv5012517,essv5125321,essv5142572,essv5160182,essv5152985,essv5105351,essv5130929,essv5030313,essv5159593,essv5157856,essv5038969,essv5121323,essv5107266,essv5115571,essv5149848,essv5137637,essv5120489,essv5048026,essv5014405,essv5049834,essv5025825,essv5039895,essv5131089,essv5054165,essv5069752,essv5011152,essv5015130,essv5055179,essv5150395,essv5043310,essv5029229,essv5065561,essv5111800,essv5007796,essv5058698,essv5129395,essv5160104,essv5019650,essv5159413,essv5098971,essv5132932,essv5069587,essv5036117,essv5106293,essv5074981,essv5013354,essv5067461,essv5154199,essv5138414,essv5034847,essv5067525,essv5059786,essv5018322,essv5043844,essv5036996,essv5129628,essv5029683,essv5020291,essv5124728,essv5065505,essv5123544,essv5010675,essv5081988,essv5142448,essv5039305,essv5032621,essv5108790,essv5084207,essv5106415,essv5058105,essv5073973,essv5128044,essv5066574,essv5056921,essv5078792,essv5006783,essv5072879,essv5026900,essv5100281,essv5060146,essv5127984,essv5071881,essv5093268,essv5036189,essv5094780,essv5007035,essv5130834,essv5009145,essv5006556,essv5103175,essv5005542,essv5135057,essv5108147,essv5024347,essv5146692,essv5144247,essv5024424,essv5107260,essv5012354,essv5016617,essv5077534,essv5029980,essv5109956,essv5071768,essv5056104,essv5055172,essv5047954,essv5119157,essv5151112,essv5129155,essv5067807,essv5025245,essv5050466,essv5009171,essv5028715,essv5153942,essv5065039,essv5019537,essv5137095,essv5009110,essv5026919,essv5123784,essv5067414,essv5088055,essv5053109,essv5059380,essv5033363,essv5035385,essv5073436,essv5059411,essv5034174,essv5081069,essv5117951,essv5118577,essv5117333,essv5043137,essv5044249,essv5112082,essv5112691,essv5045584,essv5119383,essv5016213,essv5007845,essv5098030,essv5013992,essv5156506,essv5160703,essv5083414,essv5024294,essv5055483,essv5045646,essv5138593,essv5097661,essv5047137,essv5041585,essv5153624,essv5008133,essv5139712,essv5160734,essv5092895,essv5036634,essv5077683,essv5146581,essv5117953,essv5091161,essv5109413,essv5025042,essv5146344,essv5038417,essv5075211,essv5062735,essv5108876,essv5151721,essv5062541,essv5151189,essv5018009,essv5094912,essv5005326,essv5132226,essv5019654,essv5066597,essv5130858,essv5153676,essv5117884,essv5079490,essv5063639,essv5150096,essv5098121,essv5081164,essv5006475,essv5135556,essv5062833,essv5090003,essv5147871,essv5095502,essv5146599,essv5161105,essv5079524,essv5078924,essv5015237,essv5024998,essv5060181,essv5100099,essv5152340,essv5083732,essv5040438,essv5109848,essv5042809,essv5117309,essv5065665,essv5030879,essv5127754,essv5042035,essv5112632,essv5132146,essv5131770,essv5036616,essv5061041,essv5016619,essv5142937,essv5106630,essv5067568,essv5103467,essv5110076,essv5124522,essv5088275,essv5084567,essv5058163,essv5071418,essv5159971,essv5107131,essv5100351,essv5031526,essv5044916,essv5148448,essv5039234,essv5068151,essv5057064,essv5142262,essv5116056,essv5071385,essv5021040,essv5066323,essv5094537,essv5083148,essv5138955,essv5110328,essv5082570,essv5136585,essv5016551,essv5135168,essv5003517,essv5103015,essv5008626,essv5137269,essv5010526,essv5089667,essv5065464,essv5031167,essv5077501,essv5142647,essv5157472,essv5055348,essv5147518,essv5083946,essv5038383,essv5099335,essv5022109,essv5028100,essv5049205,essv5132680,essv5125745,essv5082761,essv5052545,essv5029364,essv5019983,essv5153019,essv5127869,essv5100946,essv5057815,essv5077627,essv5147143,essv5103302,essv5018109,essv5030754,essv5090484,essv5032533,essv5136703,essv5134427,essv5145336,essv5141405,essv5138330,essv5078850,essv5056476,essv5063281,essv5094957,essv5106397,essv5075332,essv5057571,essv5018514,essv5130609,essv5106327,essv5076043,essv5148758,essv5136496,essv5135377,essv5012771,essv5125625,essv5144478,essv5047617,essv5021899,essv5028915,essv5160048,essv5033478,essv5089951,essv5133972,essv5035461,essv5035097,essv5041609,essv5033275,essv5037231,essv5053683,essv5097320,essv5091501,essv5155511,essv5112579,essv5155820,essv5039985,essv5114170,essv5127292,essv5052764,essv5087559,essv5154732,essv5042152,essv5029859,essv5051698,essv5120689,essv5055530,essv5156012,essv5091537,essv5059985,essv5081126,essv5060385,essv5092423,essv5159309,essv5111906,essv5145431,essv5159880,essv5053414,essv5059420,essv5135950,essv5018229,essv5083848,essv5061087,essv5028131,essv5006190,essv5143416,essv5042681,essv5105997,essv5109663,essv5122489,essv5083364,essv5078649,essv5149416,essv5022024,essv5034901,essv5092312,essv5043360,essv5030473,essv5132097,essv5157724,essv5046659,essv5005872,essv5049374,essv5059132,essv5148294,essv5049483,essv5079257,essv5017978,essv5077544,essv5110306,essv5137699,essv5031325,essv5027939,essv5061672,essv5031814,essv5026335,essv5140161,essv5145087,essv5083040,essv5153410,essv5019886,essv5108924,essv5123873,essv5019738,essv5054893,essv5057835,essv5137949,essv5057831,essv5044753,essv5003037,essv5114318,essv5025753,essv5138196,essv5105966,essv5137970,essv5012349,essv5105589,essv5089923,essv5032100,essv5072753,essv5031260,essv5136310,essv5149261,essv5142718,essv5052678,essv5032153,essv5077896,essv5069757,essv5096711,essv5131069,essv5079277,essv5019299,essv5089504,essv5022496,essv5004476,essv5108186,essv5107137,essv5136517,essv5119332,essv5068096,essv5046010,essv5111504,essv5096787,essv5113289,essv5045372,essv5023486,essv5077767,essv5025019,essv5019026,essv5036139,essv5155634,essv5039510,essv5107871,essv5098308,essv5122300,essv5075757,essv5120058,essv5042654,essv5018548,essv5118359,essv5119437,essv5022704,essv5053411,essv5119488,essv5015292,essv5128412,essv5111199,essv5125016,essv5113022,essv5061479,essv5024317,essv5138344,essv5060258,essv5127881,essv5127780,essv5030551,essv5013634,essv5003350,essv5076013,essv5121482,essv5146798,essv5035686,essv5146207,essv5046897,essv5132137,essv5096292,essv5014378,essv5159167,essv5115177,essv5114146,essv5005426,essv5139941,essv5037803,essv5004656,essv5047831,essv5147351,essv5097538,essv5156366,essv5100021,essv5040566,essv5066546,essv5101797,essv5017740,essv5030546,essv5151491,essv5057252,essv5085697,essv5036944,essv5044971,essv5121344,essv5063728,essv5128230,essv5096323,essv5090143,essv5115421,essv5103308,essv5008923,essv5024378,essv5061610,essv5149732,essv5075912,essv5107090,essv5081891,essv5131157,essv5134861,essv5080266,essv5015307,essv5159510,essv5087977,essv5013425,essv5105029,essv5007182,essv5160871,essv5112899,essv5069696,essv5069139,essv5023573,essv5159348,essv5024364,essv5140069,essv5052962,essv5072805,essv5135099,essv5110810,essv5102440,essv5155797,essv5119808,essv5035482,essv5030738,essv5124069,essv5135690,essv5106790,essv5021163,essv5157275,essv5076417,essv5144991,essv5119800,essv5154020,essv5120281,essv5123673,essv5026359,essv5017115,essv5057808,essv5122582,essv5125709,essv5097587,essv5083387,essv5120455,essv5109679,essv5007995 M 1184 0 674 PRH1-PRR4,TAS2R43 NA06984,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07037,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA10830,NA10831,NA10835,NA10839,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12273,NA12275,NA12282,NA12283,NA12286,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12375,NA12386,NA12399,NA12400,NA12413,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12752,NA12753,NA12761,NA12762,NA12763,NA12776,NA12777,NA12802,NA12812,NA12814,NA12815,NA12818,NA12827,NA12829,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12877,NA12878,NA12889,NA12891,NA12892,NA17962,NA17970,NA17976,NA17981,NA17993,NA17995,NA17999,NA18101,NA18102,NA18108,NA18118,NA18120,NA18122,NA18128,NA18132,NA18134,NA18135,NA18136,NA18138,NA18143,NA18144,NA18151,NA18155,NA18157,NA18162,NA18485,NA18487,NA18488,NA18497,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18509,NA18515,NA18516,NA18517,NA18519,NA18520,NA18524,NA18543,NA18545,NA18546,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18564,NA18571,NA18576,NA18582,NA18592,NA18594,NA18599,NA18605,NA18608,NA18611,NA18616,NA18617,NA18618,NA18619,NA18624,NA18628,NA18630,NA18634,NA18635,NA18636,NA18639,NA18641,NA18670,NA18682,NA18685,NA18749,NA18852,NA18854,NA18857,NA18858,NA18860,NA18862,NA18863,NA18871,NA18873,NA18875,NA18909,NA18910,NA18911,NA18912,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18940,NA18943,NA18945,NA18948,NA18951,NA18952,NA18953,NA18967,NA18969,NA18970,NA18971,NA18975,NA18990,NA18994,NA18995,NA19002,NA19009,NA19027,NA19028,NA19031,NA19036,NA19038,NA19044,NA19054,NA19056,NA19058,NA19064,NA19066,NA19067,NA19068,NA19075,NA19078,NA19083,NA19084,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19114,NA19115,NA19116,NA19118,NA19122,NA19127,NA19129,NA19130,NA19137,NA19139,NA19140,NA19142,NA19146,NA19148,NA19150,NA19152,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19176,NA19178,NA19180,NA19181,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19209,NA19210,NA19211,NA19214,NA19215,NA19221,NA19222,NA19223,NA19226,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19311,NA19313,NA19314,NA19317,NA19321,NA19328,NA19332,NA19334,NA19347,NA19359,NA19360,NA19371,NA19372,NA19375,NA19376,NA19377,NA19380,NA19381,NA19384,NA19385,NA19391,NA19394,NA19396,NA19399,NA19403,NA19404,NA19428,NA19430,NA19434,NA19444,NA19446,NA19448,NA19449,NA19451,NA19452,NA19456,NA19457,NA19466,NA19468,NA19472,NA19473,NA19474,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19663,NA19664,NA19665,NA19669,NA19671,NA19676,NA19678,NA19679,NA19685,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19711,NA19713,NA19714,NA19716,NA19718,NA19719,NA19722,NA19723,NA19724,NA19725,NA19746,NA19747,NA19748,NA19749,NA19756,NA19759,NA19760,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19794,NA19796,NA19818,NA19819,NA19828,NA19834,NA19836,NA19900,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19985,NA20126,NA20128,NA20129,NA20276,NA20277,NA20281,NA20287,NA20289,NA20290,NA20322,NA20332,NA20333,NA20335,NA20340,NA20341,NA20342,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20364,NA20504,NA20508,NA20509,NA20510,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20534,NA20539,NA20541,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20757,NA20760,NA20761,NA20765,NA20766,NA20769,NA20772,NA20773,NA20774,NA20792,NA20795,NA20800,NA20801,NA20802,NA20803,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20816,NA20818,NA20819,NA20826,NA20845,NA20850,NA20851,NA20858,NA20861,NA20866,NA20872,NA20873,NA20874,NA20876,NA20877,NA20883,NA20887,NA20892,NA20894,NA20903,NA20906,NA20909,NA20910,NA21086,NA21089,NA21097,NA21098,NA21099,NA21101,NA21103,NA21106,NA21108,NA21117,NA21119,NA21142,NA21144,NA21295,NA21300,NA21302,NA21303,NA21307,NA21309,NA21311,NA21313,NA21314,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21356,NA21362,NA21363,NA21367,NA21368,NA21370,NA21371,NA21378,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21424,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21473,NA21475,NA21476,NA21477,NA21478,NA21485,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21513,NA21519,NA21520,NA21522,NA21523,NA21526,NA21527,NA21529,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21597,NA21599,NA21608,NA21613,NA21614,NA21616,NA21617,NA21620,NA21632,NA21647,NA21648,NA21650,NA21678,NA21682,NA21686,NA21689,NA21693,NA21718,NA21722,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21784,NA21826 nsv471366 12 11135153 11136179 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548082,nssv548081,nssv548083 M 3 PRH1-PRR4,TAS2R43 nsv826250 12 11144698 11147730 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430058 S 31 0 1 PRH1-PRR4 AK14 esv5675 12 11149801 11150111 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28116 S 1 0 1 PRH1-PRR4 SJK nsv52653 12 11179371 11179423 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71231 M 24 PRH1-PRR4 esv995298 12 11179372 11179424 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580633 S 3 0 1 PRH1-PRR4 HuRef esv2570297 12 11201517 11203015 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363183 S 1 0 1 PRH1-PRR4 NA18507 nsv8918 12 11228967 11231144 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21488 S 31 1 0 Samples from several populations that are part of the HapMap project. TAS2R42 NA12155 esv6668 12 11233166 11233515 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29109 S 1 0 1 "" SJK dgv477e1 12 11248302 11436808 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10992,essv6357 M 271 0 0 PRB1,PRB2,PRB3,PRB4 NA18609,NA19143 dgv478e1 12 11248302 11606188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11995,essv22136,essv6911,essv18861,essv19436 M 271 0 0 LOC338817,PRB1,PRB2,PRB3,PRB4 NA10857,NA11840,NA12751,NA18517,NA18605 esv994058 12 11311601 11311727 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568368 S 3 0 1 PRB3 HuRef esv1018672 12 11311720 11311846 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144668 S 2 0 1 PRB3 HuRef esv1318358 12 11311876 11311939 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175404 S 2 0 1 PRB3 HuRef esv2586387 12 11312300 11312359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312607 S 1 0 1 PRB3 NA18507 nsv8919 12 11316630 11325402 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23645,nssv21189,nssv23462 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA12740,NA18502,NA19132 nsv509455 12 11324349 11417832 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623615 S 4 1 0 PRB1,PRB4 NA18994 esv2421975 12 11348980 11358722 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124234,essv5098922,essv5068667,essv5015723,essv5031363,essv5159654,essv5011861,essv5025177,essv5014725,essv5020737,essv5075661,essv5104941,essv5088160,essv5049582,essv5088612,essv5037868,essv5054591,essv5016165,essv5043128,essv5056821,essv5145935,essv5055057,essv5079214,essv5140549,essv5099317,essv5008021,essv5016957,essv5084004,essv5084829,essv5049412,essv5008628,essv5144589,essv5067245 M 1184 33 0 PRB4 NA12739,NA18484,NA18486,NA18515,NA18516,NA18518,NA18520,NA19035,NA19310,NA19319,NA19328,NA19434,NA19438,NA19439,NA19444,NA19445,NA19449,NA19462,NA21312,NA21313,NA21314,NA21336,NA21339,NA21417,NA21475,NA21479,NA21480,NA21485,NA21488,NA21490,NA21619,NA21634,NA21636 nsv818885 12 11350073 11356963 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416484,nssv1416485 M 112 2 0 PRB4 NA18515,NA18516 nsv516262 12 11350073 11466837 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659188,nssv662979,nssv692644,nssv679270,nssv686702,nssv663665,nssv674331,nssv682342,nssv681249,nssv662527,nssv703074,nssv661292,nssv666778,nssv688990,nssv667244,nssv664726,nssv683801,nssv693489,nssv689034,nssv664277,nssv689329,nssv656915,nssv693007,nssv669297,nssv654587,nssv665431,nssv676925,nssv676411,nssv676605,nssv696568,nssv685034,nssv693775,nssv662639,nssv652577,nssv671699,nssv653092,nssv654564,nssv664061,nssv690597,nssv672699,nssv658469,nssv670852,nssv668895,nssv692530,nssv669705,nssv674655,nssv659770,nssv671222,nssv675345,nssv682978,nssv677467,nssv670341,nssv691364,nssv692624,nssv676253,nssv652441,nssv682977,nssv656087,nssv675498,nssv659936,nssv655786,nssv667517,nssv680337,nssv656323,nssv674360,nssv658993,nssv675828,nssv678748,nssv651669,nssv653659,nssv676957,nssv679073,nssv693056,nssv676001,nssv691365,nssv674900,nssv654493,nssv663393,nssv669640,nssv677390,nssv663775,nssv654620,nssv684590,nssv683705,nssv666072,nssv669792,nssv651770,nssv669470,nssv693543,nssv652425,nssv680696,nssv673961,nssv692577,nssv683014,nssv658246,nssv652973,nssv664137,nssv657577,nssv689063,nssv676572,nssv693093,nssv689745,nssv670604,nssv661872,nssv686672,nssv674271,nssv682942,nssv680208,nssv686526,nssv692931,nssv683317,nssv669188,nssv653018,nssv682167,nssv664470,nssv680625,nssv683583,nssv671487,nssv665988,nssv693758,nssv682415,nssv689257,nssv674771,nssv657411,nssv667393,nssv668581,nssv683334,nssv685238,nssv659657,nssv689393,nssv657068,nssv679123,nssv689795,nssv683557,nssv677230,nssv690439,nssv693255,nssv669335,nssv667081,nssv667139,nssv676772,nssv667790,nssv680876,nssv665091,nssv657932,nssv677638,nssv685576,nssv656668,nssv692025,nssv684903,nssv670305,nssv689392,nssv684966,nssv670551,nssv668346,nssv665218,nssv682956,nssv661363,nssv681683,nssv686759,nssv658090,nssv680908,nssv659977,nssv676045,nssv678785,nssv680465,nssv655708,nssv656390,nssv653994,nssv689952,nssv686484,nssv691012,nssv675722,nssv668005,nssv669722,nssv668876,nssv675628,nssv673047,nssv685755,nssv677809,nssv683942,nssv669496,nssv663066,nssv656539,nssv664250 M 2026 36 149 PRB1,PRB2,PRB4 nsv8920 12 11350198 11385362 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23490,nssv21219 M 31 0 2 Samples from several populations that are part of the HapMap project. PRB4 NA12740,NA18502 esv1229106 12 11352820 11352820 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890896 S 2 1 0 PRB4 HuRef dgv1375n71 12 11366171 11441228 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898795,nsv898788,nsv898792,nsv898785,nsv898789,nsv898797,nsv898796,nsv898793,nsv898794,nsv898787 M 6533 53 0 PRB1,PRB2 MS10441,MS10491,MS10636,MS11505,MS11632,MS12071,MS12497,MS12685,MS12771,MS12973,MS13088,MS13770,MS13957,MS15514,MS15554,MS16032,MS16308,MS16337,MS16797,MS16834,MS17842,MS18116,MS18143,MS18422,MS18756,MS18837,MS18894,MS18940,MS19177,MS19930,MS22306,MS22524,MS22600,MS23031,MS23079,MS23714,MS24736,MS24837,MS25887,MS25891,SP50046,SP50555,SP50685,SP51037,SP53685,SP54383,SP54478,SP55032,SP55348,SP55381,SP55611,SP55621,SP55911 dgv1376n71 12 11366171 11457533 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898790,nsv898798,nsv898791,nsv898799,nsv898786 M 6533 17 0 PRB1,PRB2 MS10548,MS11300,MS11738,MS13451,MS15643,MS15752,MS16656,MS18124,MS18211,MS21465,MS21737,MS23451,MS23650,MS23879,MS24749,SP58416,SP81146 dgv184n27 12 11372324 11466837 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469102,nsv469103 M 1557 0 2 PRB1,PRB2 1780862224_A,NINDS_69 nsv608 12 11374350 11458911 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6492,nssv9279,nssv1061,nssv4011 M 9 0 4 PRB1,PRB2 NA12156,NA12878,NA18517,NA19240 nsv438190 12 11375250 11435555 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470365,nssv470349,nssv470356,nssv470358,nssv470348,nssv470355,nssv470360,nssv470351,nssv470361,nssv470362,nssv470357,nssv470350,nssv470364,nssv470366,nssv470353,nssv470347,nssv470359,nssv470354 M 269 0 15 Samples from several populations that are part of the HapMap project. PRB1 NA10831,NA10847,NA12156,NA12239,NA12740,NA12753,NA12762,NA18502,NA18506,NA18508,NA18515,NA18522,NA19119,NA19120,NA19238 dgv1377n71 12 11386974 11476647 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898801,nsv898800,nsv898802 M 6533 4 0 PRB1,PRB2 MS12883,MS13219,SP54666,SP55013 nsv826251 12 11390495 11461137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432331,nssv1426040,nssv1440580,nssv1422854,nssv1437687,nssv1430834,nssv1431558,nssv1435297,nssv1430059,nssv1422078,nssv1436098,nssv1425240 M 31 12 0 PRB1,PRB2 AK14,AK16,AK18,AK2,AK20,AK4,NA18552,NA18564,NA18566,NA18592,NA18949,NA18997 nsv8921 12 11392505 11466457 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23799,nssv25747,nssv20480,nssv20865,nssv18905,nssv21518,nssv21309,nssv21249,nssv20644,nssv19914,nssv18979,nssv20433,nssv19532,nssv20665,nssv22914,nssv21748,nssv21279,nssv19042,nssv21367,nssv23518,nssv23772,nssv20306,nssv23673,nssv22867,nssv23943,nssv21808,nssv18875,nssv24132,nssv20999,nssv18611,nssv20256 M 31 1 25 Samples from several populations that are part of the HapMap project. PRB1,PRB2 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv35n17 12 11393123 11448926 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437139,nsv437725,nsv437138,nsv437723 M 60 0 4 PRB1,PRB2 NA10831,NA12753,NA18506,NA19120 nsv821059 12 11393251 11461137 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420988 S 1 1 0 PRB1,PRB2 NA10851 nsv437137 12 11395597 11421894 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467018 S 60 0 1 Samples from several populations that are part of the HapMap project. PRB1 NA10847 esv25911 12 11395846 11460239 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13617,esv12716,esv10096,esv20701 M 451 0 31 PRB1,PRB2 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv482164 12 11396024 11399791 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558525 S 1 1 0 PRB1 KB1 nsv514648 12 11396685 11433740 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628133 S 1414 0 1 PRB1 esv1483948 12 11397730 11397730 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668871 S 2 1 0 PRB1 HuRef dgv272n67 12 11398210 11435861 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826252,nsv826255 M 31 0 2 PRB1,PRB2 NA18570,NA18582 esv2421844 12 11398341 11436086 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133149,essv5132581,essv5041366,essv5079352,essv5021710,essv5037704,essv5048520,essv5144120,essv5053851,essv5061530,essv5028762,essv5015811,essv5086107,essv5023380,essv5112122,essv5159905,essv5019184,essv5016941,essv5046213,essv5106707,essv5064318,essv5014234,essv5152690,essv5090920,essv5115423,essv5122280,essv5139846,essv5009390,essv5033236,essv5130786,essv5090369,essv5091915,essv5129163,essv5101710,essv5158759,essv5048332,essv5088967,essv5004567,essv5110829,essv5158881,essv5013483,essv5088830,essv5109053,essv5045830,essv5071590,essv5016209,essv5024329,essv5069884,essv5009449,essv5128586,essv5030976,essv5133128,essv5150131,essv5111973,essv5101488,essv5045213,essv5014479,essv5034227,essv5012203,essv5097196,essv5018373,essv5123935,essv5045926,essv5124854,essv5100648,essv5096037,essv5085800,essv5129935,essv5146391,essv5039438,essv5092684,essv5033219,essv5112874,essv5044676,essv5060077,essv5137607,essv5137796,essv5049254,essv5071406,essv5003324,essv5126468,essv5130555,essv5079195,essv5027242,essv5121647,essv5133031,essv5019297,essv5124985,essv5012968,essv5156933,essv5149489,essv5111540,essv5059909,essv5132247,essv5040665,essv5150560,essv5057134,essv5043930,essv5093414,essv5096818,essv5109308,essv5160350,essv5005951,essv5112653,essv5131467,essv5129556,essv5124477,essv5002163,essv5158067,essv5152080,essv5147755,essv5124038,essv5126254,essv5080195,essv5022149,essv5009935,essv5074403,essv5095864,essv5132695,essv5131730,essv5136172,essv5124006,essv5106830,essv5019369,essv5121584,essv5152432,essv5072912,essv5047996,essv5045876,essv5032915,essv5033019,essv5130016,essv5088728,essv5032956,essv5040092,essv5027945,essv5131020,essv5089286,essv5012917,essv5010057,essv5132948,essv5051693,essv5080277,essv5032256,essv5159059,essv5096406,essv5080460,essv5106752,essv5104233,essv5124252,essv5026669,essv5025458,essv5101824,essv5018134,essv5038005,essv5139870,essv5072406,essv5075467,essv5007878,essv5085499,essv5064993,essv5156861,essv5142368,essv5071320,essv5004336,essv5002149,essv5112751,essv5143259,essv5087120,essv5082730,essv5117706,essv5060322,essv5134357,essv5030507,essv5043040,essv5128789,essv5158001,essv5070334,essv5079098,essv5060225,essv5116430,essv5032084,essv5121574,essv5051981,essv5139218,essv5141105,essv5036676,essv5016869,essv5008018,essv5010810,essv5139277,essv5132527,essv5015815,essv5124460,essv5095985,essv5089306,essv5075360,essv5073391,essv5032218,essv5094487,essv5004745,essv5054979,essv5136608,essv5004100,essv5081215,essv5082703,essv5052305,essv5060386,essv5101435,essv5126237,essv5019335,essv5002821,essv5133467,essv5043199,essv5034628,essv5027360,essv5112440,essv5078727,essv5093732,essv5056667,essv5117974,essv5068467 M 1184 36 186 PRB1,PRB2 NA06997,NA07014,NA07031,NA07045,NA07051,NA10830,NA10831,NA10845,NA10847,NA11840,NA11931,NA12044,NA12156,NA12239,NA12283,NA12287,NA12344,NA12375,NA12383,NA12399,NA12413,NA12708,NA12716,NA12740,NA12749,NA12750,NA12751,NA12753,NA12762,NA12763,NA12878,NA17993,NA18117,NA18118,NA18147,NA18149,NA18151,NA18162,NA18484,NA18486,NA18500,NA18505,NA18506,NA18508,NA18515,NA18516,NA18517,NA18561,NA18570,NA18582,NA18605,NA18609,NA18619,NA18620,NA18623,NA18630,NA18674,NA18685,NA18747,NA18852,NA18858,NA18909,NA18910,NA18911,NA18913,NA18916,NA18930,NA18933,NA19027,NA19046,NA19055,NA19063,NA19093,NA19114,NA19115,NA19116,NA19119,NA19120,NA19127,NA19130,NA19143,NA19144,NA19176,NA19178,NA19179,NA19180,NA19181,NA19183,NA19185,NA19198,NA19199,NA19206,NA19214,NA19215,NA19223,NA19238,NA19240,NA19257,NA19311,NA19313,NA19314,NA19321,NA19332,NA19347,NA19360,NA19377,NA19380,NA19381,NA19382,NA19385,NA19399,NA19403,NA19429,NA19431,NA19446,NA19467,NA19469,NA19676,NA19711,NA19749,NA19751,NA19774,NA19788,NA19794,NA19900,NA19902,NA19908,NA19914,NA19915,NA19916,NA19921,NA20126,NA20129,NA20276,NA20277,NA20279,NA20282,NA20287,NA20288,NA20290,NA20301,NA20302,NA20335,NA20341,NA20346,NA20347,NA20356,NA20358,NA20359,NA20360,NA20363,NA20364,NA20504,NA20509,NA20519,NA20520,NA20527,NA20531,NA20544,NA20582,NA20586,NA20589,NA20765,NA20769,NA20770,NA20771,NA20787,NA20819,NA20873,NA20876,NA20881,NA20894,NA20896,NA20906,NA21092,NA21097,NA21098,NA21101,NA21103,NA21115,NA21118,NA21119,NA21143,NA21316,NA21317,NA21320,NA21353,NA21356,NA21357,NA21360,NA21361,NA21365,NA21366,NA21371,NA21379,NA21381,NA21383,NA21415,NA21434,NA21438,NA21486,NA21509,NA21519,NA21576,NA21580,NA21587,NA21597,NA21613,NA21615,NA21617,NA21619,NA21631,NA21635,NA21636,NA21678,NA21689,NA21719,NA21722,NA21723,NA21733,NA21738,NA21741 esv33471 12 11400180 11444750 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101587,essv97598,essv97544,essv93896,essv96870,essv96874,essv95141,essv93974,essv97874,essv95522,essv101783,essv99130,essv96675,essv97245,essv98649,essv93407,essv92511,essv98129,essv100268,essv100583,essv96345 M 51 10 9 PRB2 21603,21616,21634,21659,21721,21802,21837,21847,21909,21938,22011,22075,22085,22170,22233,22259,22286,22298,22371 nsv442635 12 11403759 11434653 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv24169 12 11404579 11444635 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PRB2 NA12751 dgv185n27 12 11411688 11434269 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469106,nsv469108,nsv469104,nsv469111,nsv469109,nsv469107,nsv469110 M 1557 0 7 "" 1780862384_A,HGDP00517,HGDP00608,HGDP00931,HGDP00991,HGDP01036,HGDP01271 nsv818886 12 11411688 11434269 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416488,nssv1415995,nssv1416950,nssv1416487,nssv1415591,nssv1415782,nssv1415592,nssv1418191,nssv1418099,nssv1415781,nssv1418190,nssv1418193,nssv1416939,nssv1417582,nssv1415993 M 112 6 9 "" NA10830,NA10857,NA11882,NA12044,NA12236,NA12740,NA12751,NA12865,NA12874,NA18515,NA18517,NA18972,NA19143,NA19144,NA19145 nsv818887 12 11411688 11438799 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417395 S 112 1 0 PRB2 NA18949 nsv818890 12 11411688 11448926 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416268,nssv1416486,nssv1416267,nssv1418395,nssv1418396,nssv1415992,nssv1415862,nssv1416385 M 112 4 4 PRB2 NA10847,NA10851,NA11992,NA12057,NA12239,NA12750,NA18516,NA18857 nsv437140 12 11421894 11448926 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467021 S 60 0 1 Samples from several populations that are part of the HapMap project. PRB2 NA10847 nsv818891 12 11433177 11448926 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417477 S 112 1 0 PRB2 NA18960 nsv482165 12 11435743 11439765 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558526 S 1 1 0 PRB2 KB1 nsv818892 12 11438799 11448926 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415996 S 112 0 1 PRB2 NA12740 nsv52822 12 11450508 11459563 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71400 M 24 "" nsv469112 12 11466837 11602957 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544096 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC338817 HGDP00511 esv268741 12 11525659 11525744 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513803,essv2515227,essv2518293 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19238,NA19240 esv273508 12 11525662 11525826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584384,essv2583355 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv9173 12 11634886 11634991 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31614 S 1 1 0 "" SJK nsv898803 12 11649134 11685903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594206 S 6533 0 1 "" IS39718 nsv470267 12 11658673 11679256 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546895 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00451 esv259849 12 11659815 11660183 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400118,essv2397915,essv2395354,essv2398309,essv2399294,essv2394869,essv2399680 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18861,NA18907,NA18916,NA19093,NA19102,NA19114,NA19210 nsv609 12 11695453 11730241 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1062 S 9 1 0 ETV6 NA19240 nsv611 12 11785422 11800101 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1063 S 9 1 0 ETV6 NA19240 dgv186n27 12 11804627 11822526 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469113,nsv469114 M 1557 0 2 ETV6 1780862252_A,HGDP00890 nsv832331 12 11816362 12005718 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449682 S 95 0 1 ETV6 nsv516796 12 11905252 11919012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682430,nssv691285,nssv686462,nssv656564,nssv665743,nssv658294,nssv681887,nssv675070,nssv682080,nssv692625,nssv659048,nssv655626,nssv664891,nssv687427,nssv656724,nssv670447,nssv666493,nssv660468,nssv682780,nssv682016,nssv677337,nssv658041,nssv673444,nssv690253,nssv653459,nssv686082,nssv670361,nssv655538 M 2026 0 28 ETV6 esv2554143 12 11917432 11919453 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273427 S 1 0 1 ETV6 NA18507 esv2354690 12 11917522 11918546 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4778575 S 1 0 1 ETV6 NA18507 nsv512255 12 11917605 11918568 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624829 S 1 0 1 ETV6 1 nsv826256 12 11917696 11918190 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430060,nssv1424475,nssv1428785,nssv1435342,nssv1437688,nssv1431559,nssv1439183,nssv1426042,nssv1435308,nssv1425242,nssv1434634,nssv1433110,nssv1422079,nssv1429322,nssv1421548,nssv1439902,nssv1436099,nssv1429237,nssv1440581,nssv1426965,nssv1438369,nssv1423673,nssv1422856,nssv1433902,nssv1427744,nssv1436937 M 31 0 26 ETV6 AK12,AK14,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 nsv826257 12 11917696 11919107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441394,nssv1428560 M 31 0 2 ETV6 AK10,NA18969 esv29239 12 11917753 11918281 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15967 S 451 0 8 ETV6 NA12414,NA15510,NA18523,NA18858,NA19099,NA19147,NA19225,NA19240 nsv898804 12 11949678 12093440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549581 S 6533 1 0 "" MS18274 nsv53245 12 11978573 11986733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71823 M 24 "" nsv898805 12 12010681 12047589 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524396 S 6533 1 0 "" SP55007 esv26712 12 12022255 12038473 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19512 S 451 1 0 "" NA12828 nsv438191 12 12031052 12037271 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470372,nssv470367,nssv470368,nssv470371,nssv470369,nssv470370 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18862,NA18863,NA19143,NA19145,NA19207,NA19208 nsv527741 12 12084254 12087236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704226 S 2026 0 1 "" esv4847 12 12092197 12092462 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27288 S 1 0 1 Single Asian sample YH "" YH dgv273n67 12 12143949 12144548 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826258,nsv826259 M 31 0 9 "" AK12,AK14,AK18,NA18537,NA18542,NA18570,NA18582,NA18949,NA18951 esv7410 12 12144105 12145912 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29851 S 1 0 1 "" SJK esv28847 12 12144189 12145952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19778 S 451 0 1 "" NA18511 nsv515729 12 12144858 12145743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655357,nssv673557,nssv668896,nssv676143,nssv689376,nssv655276,nssv677017,nssv656835,nssv674048,nssv664607,nssv674231,nssv676046,nssv666073,nssv662902 M 2026 0 14 "" nsv528912 12 12144858 12157308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705597 S 2026 0 1 MIR1244-1,MIR1244-2,MIR1244-3 nsv529005 12 12146023 12304062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705712 S 2026 0 1 LRP6,MIR1244-1,MIR1244-2,MIR1244-3 nsv898806 12 12155738 12345075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549582 S 6533 1 0 LRP6,MIR1244-1,MIR1244-2,MIR1244-3 MS18274 nsv832332 12 12235294 12376233 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449683 S 95 0 1 LRP6,MANSC1 nsv898807 12 12340215 12393268 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524397 S 6533 1 0 MANSC1 SP55007 nsv898808 12 12354674 12440770 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549583 S 6533 1 0 LOH12CR1,LOH12CR2,MANSC1 MS18274 nsv898809 12 12379334 12400581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506827 S 6533 1 0 LOH12CR2,MANSC1 SP54407 nsv818893 12 12406451 12433136 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416386 S 112 0 1 LOH12CR1 NA18855 dgv15n64 12 12421985 12435533 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818894,nsv818895 M 112 0 5 LOH12CR1 NA19116,NA19120,NA19141,NA19159,NA19161 nsv437141 12 12421985 12435533 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467022 S 60 0 1 Samples from several populations that are part of the HapMap project. LOH12CR1 NA12864 dgv187n27 12 12424251 12433136 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469115,nsv469117,nsv469118 M 1557 0 3 LOH12CR1 1780854467_A,HGDP00524,HGDP00675 esv2421794 12 12424251 12433136 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029621,essv5148662,essv5146520,essv5017284,essv5080300,essv5068851,essv5008714,essv5137252,essv5137062,essv5148852,essv5114908,essv5042882,essv5006932,essv5023716,essv5046604,essv5049207,essv5136154,essv5044426,essv5009680,essv5122601,essv5108177,essv5109911,essv5142734,essv5082776,essv5050350,essv5064161,essv5070693,essv5031912,essv5086688,essv5036439,essv5068790,essv5139997,essv5045564,essv5060056,essv5099580,essv5039185,essv5098142,essv5038187,essv5030463,essv5117654,essv5111838,essv5090487,essv5028969,essv5072018,essv5042532,essv5020585,essv5004409,essv5057052,essv5121601,essv5156653,essv5086460,essv5083111,essv5150948,essv5096801,essv5018841 M 1184 0 55 LOH12CR1 NA07055,NA07347,NA07435,NA10836,NA12275,NA12748,NA12827,NA12864,NA12872,NA18143,NA18747,NA18855,NA18868,NA19116,NA19120,NA19122,NA19123,NA19141,NA19159,NA19161,NA19197,NA19199,NA19201,NA19307,NA19449,NA19654,NA19656,NA19770,NA19818,NA19828,NA20291,NA20294,NA20295,NA20333,NA20508,NA20509,NA20540,NA20752,NA20765,NA20768,NA20772,NA20775,NA20800,NA20850,NA20887,NA21104,NA21109,NA21113,NA21141,NA21403,NA21404,NA21418,NA21526,NA21723,NA21740 nsv517152 12 12424251 12438912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663795,nssv663754,nssv688991,nssv682979,nssv656608,nssv680812,nssv690654,nssv688858,nssv656050,nssv679942,nssv654314,nssv685239,nssv655325,nssv687067,nssv675224,nssv681032,nssv673821,nssv664941,nssv680877,nssv676293,nssv667082,nssv673445,nssv687688,nssv704135,nssv686564,nssv677787,nssv653744,nssv661488,nssv653672,nssv653653,nssv654422,nssv675808,nssv665861,nssv679271,nssv654374,nssv691101,nssv655498,nssv659771,nssv653239,nssv655112,nssv687515,nssv678489,nssv673919,nssv663847,nssv663919,nssv685867,nssv693185,nssv657682,nssv675051,nssv655466,nssv678315,nssv661709,nssv652304,nssv666233,nssv676373,nssv689623,nssv679466,nssv682483,nssv676171,nssv673527 M 2026 0 60 LOH12CR1 nsv442636 12 12428764 12433138 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOH12CR1 nsv514649 12 12429106 12433102 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628134 S 1414 0 1 LOH12CR1 nsv513696 12 12434775 12437839 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626948 S 1 0 0 LOH12CR1 1 esv994164 12 12435001 12438008 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564158 S 3 0 0 LOH12CR1 HuRef nsv436659 12 12435235 12436437 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466686 S 2 0 0 Samples from several populations that are part of the HapMap project. LOH12CR1 NA18505 esv2506365 12 12436072 12437976 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343685 S 1 0 0 LOH12CR1 NA18507 nsv513697 12 12436199 12438982 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626949 S 1 0 0 LOH12CR1 1 esv1628398 12 12436246 12437784 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776758 S 2 0 0 LOH12CR1 HuRef esv5706 12 12436253 12437612 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28147 S 1 0 0 LOH12CR1 SJK nsv898810 12 12491347 12518677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549839 S 6533 0 1 DUSP16,LOH12CR1 MS18276 esv271155 12 12501020 12501105 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515292,essv2518381 M 157 2 0 Samples from several populations that are part of the HapMap project. LOH12CR1 NA12249,NA19240 esv274447 12 12501020 12501105 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581111 S 7 1 0 Samples from several populations that are part of the HapMap project. LOH12CR1 NA19240 dgv479e1 12 12511921 12674391 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9240,essv15050,esv23 M 271 0 0 CREBL2,DUSP16 NA19128,NA19129 nsv898811 12 12546710 12819562 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549584 S 6533 1 0 APOLD1,CDKN1B,CREBL2,DUSP16,GPR19,MIR613 MS18274 nsv523366 12 12556513 12570391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699115 S 2026 1 0 DUSP16 esv33583 12 12557043 12570375 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97478 S 51 0 1 DUSP16 21616 nsv523022 12 12564818 12579448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698701 S 2026 0 1 DUSP16 nsv8922 12 12605559 12607734 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21339,nssv20658,nssv22896,nssv23826,nssv20463,nssv19562 M 31 6 0 Samples from several populations that are part of the HapMap project. DUSP16 NA07029,NA07048,NA12740,NA18504,NA18517,NA18564 nsv53247 12 12632777 12642205 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71825 M 24 "" nsv522482 12 12637852 12644945 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705849 S 2026 0 1 "" esv994514 12 12647176 12653331 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565434 S 3 0 1 "" HuRef nsv612 12 12676068 12703221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4012,nssv10851 M 9 2 0 CREBL2 NA12878,NA18956 nsv509456 12 12689295 12726039 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620949,nssv619542,nssv623620,nssv618090 M 4 4 0 CREBL2,GPR19 CHM,NA10860,NA15510,NA18994 esv997134 12 12697263 12698949 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563687 S 3 1 0 "" HuRef dgv89n21 12 12701921 12721304 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528913,nsv522656 M 2026 2 0 GPR19 nsv898812 12 12741635 12786146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600421 S 6533 0 1 APOLD1,CDKN1B IS41881 nsv898813 12 12755656 12786146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511471 S 6533 0 1 APOLD1,CDKN1B SP55021 esv23001 12 12789776 12790397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12478 S 451 0 1 APOLD1 NA18502 nsv53843 12 12794588 12798403 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72421 M 24 APOLD1 esv267412 12 12824928 12830990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517122,essv2518188,essv2515944,essv2517553,essv2513585 M 157 5 0 Samples from several populations that are part of the HapMap project. APOLD1 NA07347,NA11931,NA12872,NA12873,NA12878 esv273911 12 12824928 12830990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581577 S 7 1 0 Samples from several populations that are part of the HapMap project. APOLD1 NA12878 nsv527423 12 12900127 12905526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703861 S 2026 0 1 "" esv994768 12 12908098 12908887 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564692 S 3 0 1 "" HuRef esv2072211 12 12908735 12909429 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706834 S 1 0 1 "" NA18507 esv987670 12 12908904 12909217 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568221 S 3 0 1 "" HuRef esv1228935 12 12908915 12909229 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688974 S 2 0 1 "" HuRef nsv832333 12 12941004 13152331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449685 S 95 1 0 GPRC5A,GPRC5D,GSG1,HEBP1,HTR7P1,KIAA1467,LOC100506314,MIR614 esv8639 12 12973473 12980444 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31080 S 1 0 1 "" SJK nsv520173 12 12974404 13016204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697262 S 2026 0 1 GPRC5D nsv898814 12 12983850 13012118 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526556 S 6533 1 0 GPRC5D SP57654 esv1269056 12 13000662 13000662 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028048 S 2 1 0 "" HuRef nsv826260 12 13043899 13045156 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433111 S 31 1 0 HEBP1,HTR7P1 NA18972 esv259679 12 13055537 13056239 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398618,essv2396746,essv2400191,essv2398601,essv2399057,essv2395842,essv2398470,essv2395290,essv2399108,essv2397532,essv2400914,essv2399833,essv2398910,essv2395795,essv2396230,essv2400582,essv2397558,essv2394463,essv2398099,essv2396814,essv2399966,essv2396788,essv2399365,essv2395398,essv2397984,essv2398271,essv2399162,essv2397267,essv2401087,essv2396908,essv2395230,essv2395027,essv2397447,essv2399319,essv2396167,essv2400723,essv2395097,essv2399878,essv2398514,essv2399860,essv2400135,essv2396845,essv2398252,essv2397477,essv2398139,essv2395124,essv2394525,essv2399645,essv2398028 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA10847,NA10851,NA11830,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12287,NA12749,NA12751,NA12763,NA12776,NA12878,NA12891,NA12892,NA18499,NA18519,NA18520,NA18522,NA18523,NA18542,NA18550,NA18561,NA18562,NA18573,NA18608,NA18638,NA18909,NA18947,NA18949,NA18953,NA18959,NA18964,NA19147 esv259559 12 13055542 13056219 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394202,essv2393896,essv2393779 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1056618 12 13056119 13056119 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177188 S 2 1 0 "" HuRef esv8785 12 13068695 13069479 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31226 S 1 0 1 "" SJK esv2338710 12 13090161 13090650 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875228 S 1 0 1 KIAA1467 NA18507 nsv52858 12 13090355 13090458 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71436 M 24 KIAA1467 esv267848 12 13124180 13124265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515156 S 157 1 0 Samples from several populations that are part of the HapMap project. KIAA1467 NA12812 nsv826261 12 13148368 13151129 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441396 S 31 0 1 "" NA18969 nsv613 12 13205254 13238872 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9002,nssv4013 M 9 2 0 "" NA12156,NA12878 esv2026761 12 13209427 13209834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564918 S 1 0 1 "" NA18507 nsv614 12 13318260 13363133 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9003 S 9 0 1 "" NA12156 nsv528081 12 13377872 13377930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704617 S 2026 0 1 "" esv1150002 12 13395939 13395939 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754015 S 2 1 0 "" HuRef nsv522848 12 13396763 13408841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698501 S 2026 0 1 "" nsv518481 12 13404007 13405256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695920 S 2026 0 1 "" nsv508666 12 13418770 13451305 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618846,nssv620038,nssv617397 M 4 0 3 C12orf36 CHM,NA10860,NA15510 nsv78 12 13429399 13466004 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv78 S 1 0 1 "" NA15510 esv33935 12 13431565 13448864 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100712,essv99881 M 51 2 0 "" 21656,22086 nsv615 12 13433124 13448180 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6493,nssv5403 M 9 0 2 "" NA12156,NA19129 esv1007802 12 13434979 13443970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565389 S 3 0 1 "" HuRef nsv512256 12 13435699 13444087 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624830 S 1 0 1 "" 1 nsv498780 12 13437282 13443454 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585641 S 9 0 1 "" esv1768189 12 13441349 13441835 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819037 S 2 0 0 "" HuRef esv33553 12 13470992 13473801 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100727,essv100094 M 51 2 0 "" 21656,22086 esv33788 12 13481216 13481912 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98102 S 51 0 1 "" 22259 esv6320 12 13500101 13500207 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28761 S 1 1 0 "" SJK esv34092 12 13523227 13560042 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv1530840 12 13570663 13570663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863348 S 2 1 0 "" HuRef nsv826262 12 13676755 13770003 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441397 S 31 0 1 GRIN2B NA18969 nsv518482 12 13766056 13769155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695921 S 2026 0 1 GRIN2B nsv470268 12 13828587 13844161 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546896 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRIN2B HGDP01060 esv4674 12 13832832 13833067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27115 S 1 0 1 Single Asian sample YH GRIN2B YH esv1197500 12 13832877 13832974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954337 S 2 0 1 GRIN2B HuRef nsv524950 12 13899773 13901181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700969 S 2026 0 1 GRIN2B esv992165 12 13943590 13944104 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587013 S 3 0 1 GRIN2B HuRef nsv832334 12 13960000 14209787 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449686 S 95 1 0 GRIN2B esv275049 12 14024203 14028539 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585993,essv2585345 M 1250 1 1 GRIN2B esv270997 12 14065118 14065442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565796,essv2576123,essv2571792,essv2521276,essv2525912,essv2542212,essv2522829,essv2544057,essv2570762,essv2556773,essv2545434,essv2523184,essv2532009,essv2576515,essv2525393,essv2535366,essv2554269,essv2520301,essv2547473,essv2564677,essv2553602,essv2565311,essv2520014,essv2564117,essv2561990,essv2537543,essv2528591,essv2546992,essv2557124,essv2551789,essv2538936,essv2544712,essv2523642,essv2541215,essv2538274,essv2540558,essv2524732,essv2565175,essv2534929,essv2561083,essv2549525,essv2519509,essv2559945,essv2522125,essv2565957,essv2531162,essv2532723,essv2567862,essv2528664,essv2567525,essv2541792,essv2563781,essv2553192,essv2535819,essv2572577,essv2559111,essv2569120,essv2578296,essv2555350,essv2566373,essv2530083,essv2557751,essv2555836,essv2531529,essv2573358,essv2571926,essv2526777,essv2538730,essv2568648,essv2560320,essv2538104,essv2549064,essv2533074,essv2554460,essv2525108 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07357,NA11829,NA11830,NA11840,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12154,NA12156,NA12249,NA12287,NA12716,NA12717,NA12751,NA12763,NA12812,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18501,NA18504,NA18519,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18940,NA18943,NA18948,NA18949,NA18953,NA18956,NA18961,NA18964,NA18973,NA19005,NA19108,NA19147,NA19190 esv272624 12 14065118 14065442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582181,essv2582767,essv2582891 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1229138 12 14065146 14065146 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780116 S 2 1 0 "" HuRef nsv616 12 14070838 14100025 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5404 S 9 1 0 "" NA19129 esv29199 12 14105352 14107983 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20792 S 451 0 1 "" NA19108 esv1178914 12 14149887 14150218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021699 S 2 0 1 "" HuRef esv1639171 12 14151229 14151229 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117671 S 2 1 0 "" HuRef nsv528068 12 14161348 14426818 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704604 S 2026 1 0 ATF7IP dgv1378n71 12 14184385 14248326 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898816,nsv898815 M 6533 0 3 "" MS10790,MS21506,MS21536 esv990707 12 14214683 14215450 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564006 S 3 1 0 "" HuRef nsv617 12 14280745 14325521 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9004 S 9 0 1 "" NA12156 nsv832335 12 14300155 14498015 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449687 S 95 0 1 ATF7IP dgv90n21 12 14312379 14319385 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526448,nsv516257 M 2026 0 3 "" esv2436958 12 14367840 14368406 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356349 S 1 1 0 "" NA18507 nsv513356 12 14367910 14368212 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625749 S 1 1 0 "" 1 nsv469119 12 14513269 14579911 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544103 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATF7IP,PLBD1 HGDP01188 nsv470269 12 14513269 14579911 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546897 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATF7IP,PLBD1 HGDP01188 esv22134 12 14525367 14538705 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18002 S 451 1 0 ATF7IP NA11995 nsv618 12 14564480 14592575 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9006 S 9 0 1 PLBD1 NA12156 esv1496084 12 14630236 14630488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028074 S 2 0 1 "" HuRef nsv898817 12 14733842 14980683 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506273 S 6533 1 0 ART4,C12orf60,C12orf69,ERP27,GUCY2C,H2AFJ,HIST4H4,MGP,WBP11 SP54127 nsv528779 12 14735102 14776905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705445 S 2026 0 1 GUCY2C nsv519851 12 14812901 14813007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676144,nssv659082,nssv680186 M 2026 0 3 "" nsv53585 12 14836654 14836775 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72163 M 24 WBP11 esv259518 12 14887356 14888067 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394039 S 6 0 0 Samples from several populations that are part of the HapMap project. ART4 NA19239 nsv898818 12 14924858 14952330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506597 S 6533 0 1 MGP SP54381 nsv469120 12 14966469 14992702 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544104 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGDIB,ERP27 HGDP01090 esv268382 12 14995882 14996210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557842,essv2565574,essv2526170,essv2536798,essv2522917,essv2568089,essv2545436,essv2548587,essv2521532,essv2550839,essv2525271,essv2550428,essv2564413,essv2554947,essv2530796,essv2561932,essv2537654,essv2528617,essv2540036,essv2520957,essv2557141,essv2552352,essv2532133,essv2569574,essv2527129,essv2544862,essv2534899,essv2561132,essv2539893,essv2549386,essv2528000,essv2533724,essv2555614,essv2567168,essv2543369,essv2573294,essv2575392,essv2526404,essv2560758,essv2574661,essv2549728,essv2536112,essv2533046,essv2554728,essv2524988,essv2563388 M 157 46 0 Samples from several populations that are part of the HapMap project. ARHGDIB NA06986,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11918,NA11920,NA11931,NA11995,NA12003,NA12045,NA12144,NA12155,NA12156,NA12234,NA12751,NA12872,NA12873,NA12874,NA12878,NA12891,NA18489,NA18498,NA18501,NA18502,NA18505,NA18508,NA18522,NA18526,NA18561,NA18562,NA18563,NA18564,NA18907,NA18944,NA18945,NA18947,NA18965,NA18969,NA19099,NA19114,NA19116,NA19138,NA19225 esv273504 12 14995883 14996211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582023,essv2582485 M 7 2 0 Samples from several populations that are part of the HapMap project. ARHGDIB NA12878,NA12891 nsv826263 12 15028874 15030205 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424477 S 31 0 1 "" NA18582 nsv510287 12 15033366 15039366 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624114,nssv618360 M 4 0 2 "" CHM,NA18994 esv7241 12 15090475 15090530 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29682 S 1 1 0 "" SJK esv268079 12 15124106 15124456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502316,essv2499480,essv2504078,essv2493793,essv2494729,essv2498288,essv2501046,essv2497908,essv2506509 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA12004,NA12044,NA18505,NA18517,NA18519,NA18526,NA18856,NA18945,NA19108 nsv898819 12 15161132 15204511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555439 S 6533 0 1 RERG MS21340 nsv898820 12 15181835 15265897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519580 S 6533 0 1 RERG SP81097 nsv619 12 15211958 15244720 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4014 S 9 1 0 RERG NA12878 nsv620 12 15253027 15281147 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10852 S 9 1 0 RERG NA18956 esv33461 12 15323654 15398874 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98577 S 51 1 0 PTPRO 22085 nsv622 12 15425617 15477411 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5406,nssv9280 M 9 0 2 PTPRO NA18517,NA19129 nsv470270 12 15451463 15493688 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546899 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRO HGDP00472 nsv442257 12 15459186 15464906 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PTPRO esv2421342 12 15459190 15464910 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064191,essv5086509,essv5055788,essv5126846,essv5039249,essv5038594,essv5151951,essv5074829,essv5113118,essv5118478,essv5143945,essv5117397,essv5010479,essv5005802,essv5015501,essv5019358,essv5034423,essv5028549,essv5034862,essv5081497,essv5024000,essv5154609,essv5006650,essv5033247,essv5105770,essv5123820,essv5091353,essv5115031,essv5090386,essv5119130,essv5119847,essv5070392,essv5157043,essv5066769,essv5145519,essv5073351,essv5103142,essv5036356,essv5022901,essv5058115,essv5160194,essv5055628,essv5106237,essv5145491,essv5123816 M 1184 0 45 PTPRO NA18484,NA18486,NA18488,NA18506,NA18508,NA18517,NA18862,NA18909,NA18911,NA18923,NA18934,NA18935,NA19113,NA19115,NA19127,NA19128,NA19129,NA19152,NA19178,NA19179,NA19180,NA19184,NA19185,NA19186,NA19198,NA19199,NA19200,NA19201,NA19202,NA19226,NA19238,NA19315,NA19350,NA19390,NA19398,NA19456,NA19469,NA19470,NA19472,NA19711,NA19917,NA19918,NA20288,NA20300,NA20336 esv27762 12 15459561 15464859 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19468 S 451 0 4 PTPRO NA18508,NA18517,NA18909,NA19129 nsv498781 12 15459748 15464887 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585642 S 9 0 1 PTPRO nsv514655 12 15460376 15464700 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628135 S 1414 0 1 PTPRO nsv517475 12 15461346 15465349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672889,nssv686926,nssv652132,nssv670605,nssv687287,nssv670416,nssv670116,nssv654315,nssv660732,nssv670229,nssv662355,nssv663122,nssv698817,nssv662192,nssv666412,nssv688440,nssv656697,nssv666550,nssv654722,nssv668007,nssv668582,nssv662074,nssv690933,nssv667394,nssv659772,nssv685088,nssv680479,nssv693956,nssv692532,nssv671391,nssv677231,nssv660585,nssv656540,nssv671288,nssv688992,nssv672804,nssv692704,nssv659979,nssv685414 M 2026 0 39 PTPRO esv271759 12 15508470 15513567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518145 S 157 1 0 Samples from several populations that are part of the HapMap project. PTPRO NA12872 nsv898821 12 15522315 15644393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556440 S 6533 0 1 PTPRO MS22008 esv1437894 12 15557287 15557365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766200 S 2 0 1 PTPRO HuRef nsv469121 12 15583166 15623011 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544105 S 1557 0 1 PTPRO 1798860192_A dgv1379n71 12 15729957 15767687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898823,nsv898822 M 6533 0 2 EPS8 SP52117,SP55986 esv2135886 12 15746655 15747111 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524024 S 1 0 1 EPS8 NA18507 nsv623 12 15861352 15869981 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9007 S 9 0 1 "" NA12156 nsv510288 12 15901646 15907646 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618361,nssv621373,nssv622175,nssv624115 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv436160 12 15906760 15913605 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466687 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498782 12 15909934 15912933 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585643 S 9 0 1 "" nsv826264 12 15909950 15911578 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435319,nssv1422080,nssv1441398,nssv1436100,nssv1427745,nssv1430835 M 31 0 6 "" AK16,AK8,NA18566,NA18592,NA18969,NA18997 esv28826 12 15909972 15912379 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10538 S 451 0 4 "" NA11995,NA12006,NA12489,NA18505 nsv514656 12 15910149 15911437 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628137 S 1414 0 1 "" esv2647271 12 16013692 16015185 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193654 S 1 0 1 DERA NA18507 dgv1380n71 12 16113535 16176805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898825,nsv898824 M 6533 0 4 "" IS37428,IS40890,IS41964,MS15491 esv1000337 12 16123551 16123551 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568851 S 3 1 0 "" HuRef esv1575201 12 16123552 16123552 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329617 S 2 1 0 "" HuRef nsv832336 12 16131300 16321671 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449688 S 95 1 0 SLC15A5 dgv480e1 12 16156359 16337645 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7203,esv263 M 271 0 0 SLC15A5 NA18547 nsv428273 12 16156359 16337645 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452271 S 62 0 1 SLC15A5 NA19096 nsv527670 12 16168702 16219962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704145 S 2026 0 1 "" nsv898826 12 16186328 16353050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584672 S 6533 0 1 SLC15A5 IS37116 nsv52662 12 16301514 16303933 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71240 M 24 SLC15A5 nsv512257 12 16311289 16313359 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624831 S 1 0 1 SLC15A5 1 dgv274n67 12 16311308 16312651 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826268,nsv826266 M 31 0 24 SLC15A5 AK10,AK12,AK14,AK16,AK2,AK20,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821614 12 16311308 16312651 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420989 S 1 0 1 SLC15A5 NA10851 esv999691 12 16311390 16312549 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582545 S 3 0 1 SLC15A5 HuRef esv1003486 12 16311392 16311888 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586591 S 3 0 1 SLC15A5 HuRef esv26884 12 16311392 16312589 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18595,esv10232 M 451 6 5 SLC15A5 NA11931,NA12004,NA12239,NA12414,NA18508,NA18517,NA18523,NA18858,NA18861,NA19147,NA19190 nsv826267 12 16311400 16311938 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435330 S 31 0 1 SLC15A5 NA18592 esv1001083 12 16311400 16312651 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587270 S 3 0 1 SLC15A5 HuRef nsv832338 12 16363501 16531364 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449689 S 95 1 0 MGST1 dgv1381n71 12 16363539 16431572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898827,nsv898828 M 6533 0 4 MGST1 MS10764,MS20510,MS20671,MS21236 nsv523348 12 16384311 16385171 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699097 S 2026 1 0 "" dgv1382n71 12 16432778 16464254 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898829,nsv898830 M 6533 2 0 "" SP54050,SP57941 nsv821670 12 16449421 16465824 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421244 S 31 0 1 "" nsv832339 12 16461006 16631584 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449690 S 95 1 0 LMO3 nsv826269 12 16522354 16523150 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436102 S 31 0 1 "" NA18566 nsv826270 12 16682926 16842014 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441400 S 31 0 1 "" NA18969 esv271587 12 16787780 16787865 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513969,essv2518219 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19240 esv274027 12 16787780 16787865 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581297 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv624 12 16804881 16849488 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9008 S 9 0 1 "" NA12156 nsv507629 12 17084870 17090870 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619065 S 4 1 0 "" NA10860 dgv20n68 12 17109168 17316056 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832341,nsv832340 M 95 11 0 "" nsv898831 12 17238712 17404998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561885 S 6533 0 1 "" MS25280 nsv898832 12 17278830 17349582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574740 S 6533 0 1 "" IS33616 nsv512258 12 17334839 17337385 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624832 S 1 0 1 "" 1 esv2494196 12 17335669 17338133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382814 S 1 0 1 "" NA18507 dgv8e194 12 17335894 17337389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1923861,esv2395362 M 1 0 1 "" NA18507 dgv275n67 12 17335963 17337306 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826271,nsv826272 M 31 0 23 "" AK10,AK12,AK16,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv820805 12 17335963 17337306 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420990 S 1 0 1 "" NA10851 nsv819797 12 17335993 17337259 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419221 S 2 1 0 "" AK1 esv27991 12 17336026 17337197 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18539 S 451 7 5 "" NA06985,NA11993,NA12006,NA12156,NA12414,NA12776,NA18508,NA18861,NA18916,NA19114,NA19129,NA19190 esv4923 12 17336053 17337271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27364 S 1 0 1 Single Asian sample YH "" YH esv8615 12 17336087 17337212 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31056 S 1 0 1 "" SJK esv997986 12 17336092 17337203 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581296 S 3 0 1 "" HuRef nsv826273 12 17336798 17338695 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421572 S 31 1 0 "" NA18547 nsv898833 12 17443084 17512346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556639 S 6533 0 1 "" MS22104 nsv470271 12 17455339 17525192 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546900 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00615 esv259993 12 17480833 17481156 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397803,essv2400853,essv2399553,essv2395039,essv2397170,essv2398803,essv2400425,essv2400180,essv2394912,essv2394434,essv2395878,essv2397518,essv2398179,essv2394844,essv2398044 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18564,NA18570,NA18571,NA18572,NA18582,NA18592,NA18608,NA18942,NA18943,NA18945,NA18947,NA18949,NA19114,NA19147 esv2421454 12 17481711 17491817 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067876,essv5082644,essv5093569,essv5081239,essv5156074,essv5059216,essv5076702,essv5025089,essv5065771,essv5112614,essv5005320,essv5073961,essv5045994,essv5141933,essv5110466,essv5106847,essv5092866,essv5010681,essv5041000,essv5084071 M 1184 0 20 "" NA17966,NA18504,NA19087,NA19143,NA19185,NA19186,NA19238,NA19649,NA19704,NA19755,NA19757,NA20295,NA21313,NA21362,NA21385,NA21440,NA21528,NA21587,NA21615,NA21634 nsv442258 12 17481711 17491817 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514657 12 17488974 17490710 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628138 S 1414 0 1 "" esv24488 12 17498636 17499712 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9925,esv15141 M 451 1 1 "" NA11995,NA19108 nsv517025 12 17507735 17508378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653635,nssv655962,nssv680534,nssv666363,nssv664362,nssv689852,nssv671014,nssv668402,nssv665092,nssv689141,nssv654281,nssv655167,nssv660053,nssv675810,nssv662879,nssv659916,nssv673291,nssv678685,nssv654253,nssv679293,nssv690951,nssv661221,nssv686131,nssv683915,nssv676773,nssv672130,nssv689828 M 2026 0 27 "" nsv524469 12 17507735 17512871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700406 S 2026 0 1 "" dgv1383n71 12 17512871 17940493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898834,nsv898835 M 6533 0 2 MIR3974 IS31137,IS36722 nsv507630 12 17597794 17603794 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620484 S 4 1 0 "" NA15510 nsv898836 12 17601788 17686665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564516 S 6533 0 1 "" IS30226 nsv470272 12 17686665 17743395 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546901 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR3974 HGDP01199 nsv898837 12 17687450 18735803 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598986 S 6533 1 0 MIR3974,PIK3C2G,PLCZ1,RERGL IS41196 nsv832342 12 17693010 17816827 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449703 S 95 0 1 MIR3974 nsv898838 12 17709244 17775520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585031 S 6533 0 1 MIR3974 IS37226 nsv898839 12 17714057 18097102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591750 S 6533 0 1 MIR3974 IS39011 esv275587 12 17734513 17759500 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585464 S 1250 0 1 "" nsv7229 12 17783418 17943734 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9832,nssv1982,nssv6494,nssv1984,nssv1065,nssv5408,nssv10853,nssv9281,nssv10854,nssv9282,nssv10901,nssv1064,nssv4015,nssv9831,nssv5407 M 9 0 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv2546000 12 17784909 17786392 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305618 S 1 0 1 "" NA18507 esv2321291 12 17785248 17785845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990129 S 1 0 1 "" NA18507 esv2958 12 17785367 17785707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25399 S 1 0 1 Single Asian sample YH "" YH esv6549 12 17785414 17785665 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28990 S 1 0 1 "" SJK esv2581635 12 17785434 17785660 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282170 S 1 0 1 "" NA18507 esv1594790 12 17785437 17785664 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700331 S 2 0 1 "" HuRef nsv826274 12 17795330 17796038 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429261 S 31 0 1 "" NA18947 nsv469123 12 17795456 17834874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544106 S 1557 0 1 "" 1780854341_A nsv80 12 17801435 17883572 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv80 S 1 0 0 "" NA15510 nsv511014 12 17807326 17936480 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622392,nssv621617,nssv624334,nssv618613 M 4 0 0 "" CHM,NA10860,NA15510,NA18994 esv987642 12 17812790 17905681 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563842 S 3 0 0 "" HuRef dgv15n47 12 17813888 17903822 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499094,nsv499809 M 9 0 0 "" esv1365360 12 17815364 17902973 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202432 S 2 0 0 "" HuRef nsv518096 12 17818869 17834874 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695509 S 2026 0 1 "" nsv8923 12 17847427 17858036 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18641 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv442259 12 17853447 17856104 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1384n71 12 17857886 17965970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898840,nsv898841 M 6533 0 2 "" IS39718,MS22104 esv267615 12 17879656 17879741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516416 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv2539636 12 17922896 17926057 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181010 S 1 0 1 "" NA18507 esv2038614 12 17923673 17925957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833631 S 1 0 1 "" NA18507 nsv898842 12 18101770 18266717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554132 S 6533 0 1 RERGL MS20627 nsv625 12 18118329 18151619 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1985 S 9 1 0 RERGL NA18555 esv2529764 12 18135161 18145849 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278125 S 1 0 1 "" NA18507 esv1981160 12 18140948 18141363 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772390 S 1 0 1 "" NA18507 nsv898843 12 18168046 18266090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558396 S 6533 0 1 "" MS23257 nsv832343 12 18170747 18351431 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449704 S 95 1 0 PIK3C2G nsv832344 12 18182476 18397254 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449705 S 95 0 1 PIK3C2G esv2506705 12 18208230 18209911 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211559 S 1 0 1 "" NA18507 esv1406253 12 18208967 18209275 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939282 S 2 0 1 "" HuRef nsv898844 12 18212721 18293752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591573 S 6533 0 1 "" IS38993 nsv626 12 18234281 18266370 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9009 S 9 0 1 "" NA12156 nsv527221 12 18252910 18253289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703621 S 2026 0 1 "" nsv524175 12 18252910 18293752 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700056 S 2026 1 0 "" esv269564 12 18260033 18260303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511030,essv2506822,essv2504449,essv2512428,essv2508535,essv2508818,essv2500336,essv2502781,essv2511875,essv2504488,essv2500624,essv2500074,essv2508624,essv2507266,essv2511672,essv2502361,essv2495926,essv2509576,essv2498723,essv2503911 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11831,NA11918,NA11993,NA12043,NA12717,NA12878,NA12891,NA12892,NA18499,NA18563,NA18571,NA18573,NA18592,NA18870,NA18940,NA18948,NA18961,NA19129,NA19138 esv273629 12 18260044 18260277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582262,essv2582421,essv2582915 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv898845 12 18262724 18293752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568452 S 6533 0 1 "" IS31285 nsv437726 12 18270750 18287445 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467607 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 nsv8925 12 18273452 18284670 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25769 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv24423 12 18276610 18285011 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20812 S 451 0 1 "" NA18861 nsv898846 12 18301161 18383766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557262,nssv1541809 M 6533 0 2 PIK3C2G MS15502,MS22568 nsv898847 12 18350654 18413696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551983 S 6533 0 1 PIK3C2G MS19068 nsv627 12 18364027 18380447 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9010 S 9 0 1 PIK3C2G NA12156 nsv438194 12 18371121 18458285 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470376,nssv470378,nssv470373,nssv470377,nssv470375 M 269 0 4 Samples from several populations that are part of the HapMap project. PIK3C2G NA19137,NA19139,NA19159,NA19161 esv2650294 12 18412954 18414445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363662 S 1 0 1 PIK3C2G NA18507 esv1542857 12 18414027 18414177 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310709 S 2 0 1 PIK3C2G HuRef nsv8926 12 18435370 18455219 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19072 S 31 0 1 Samples from several populations that are part of the HapMap project. PIK3C2G NA18942 nsv437727 12 18449443 18467071 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467608 S 60 0 1 Samples from several populations that are part of the HapMap project. PIK3C2G NA19139 nsv437728 12 18452664 18459995 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467609 S 60 0 1 Samples from several populations that are part of the HapMap project. PIK3C2G NA19161 esv267505 12 18497973 18498058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514137 S 157 1 0 Samples from several populations that are part of the HapMap project. PIK3C2G NA12043 esv274546 12 18573293 18573564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579023 S 7 1 0 Samples from several populations that are part of the HapMap project. PIK3C2G NA19239 esv268773 12 18573307 18573587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557575,essv2569591,essv2558768,essv2551142,essv2556381,essv2527961,essv2575169,essv2530256,essv2546100 M 157 9 0 Samples from several populations that are part of the HapMap project. PIK3C2G NA18499,NA18508,NA18516,NA18858,NA18871,NA18907,NA19102,NA19141,NA19239 esv23982 12 18614344 18616377 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19902 S 451 0 4 PIK3C2G NA18502,NA18508,NA18523,NA18858 esv1370525 12 18642901 18642901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733705 S 2 1 0 PIK3C2G HuRef nsv520574 12 18670526 18672216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697498 S 2026 0 1 PIK3C2G nsv521707 12 18675030 18675519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698331 S 2026 0 1 PIK3C2G nsv628 12 18677846 18710561 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5409 S 9 1 0 PIK3C2G NA19129 esv1925531 12 18694716 18695118 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515904 S 1 0 1 "" NA18507 esv271722 12 18784000 18784121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510798,essv2496169,essv2497713,essv2496971,essv2502148 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18511,NA19147,NA19190,NA19257 esv271613 12 18787357 18787722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508864,essv2500344 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv274385 12 18787422 18787514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581939,essv2582670 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv629 12 18839663 18873429 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2876 S 9 1 0 "" NA18555 esv2422206 12 18844289 19455628 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161491 S 181 1 0 PLEKHA5 ND03704 nsv832345 12 18877361 19060813 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449712,nssv1449711,nssv1449708,nssv1449707,nssv1449710,nssv1449709,nssv1449718,nssv1449714,nssv1449713,nssv1449716,nssv1449715 M 95 0 11 "" esv2626509 12 18916215 18917099 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165213 S 1 1 0 "" NA18507 esv1245785 12 18916612 18916612 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638798 S 2 1 0 "" HuRef nsv469129 12 18979898 19064774 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544108 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00011 dgv1385n71 12 18979898 19082600 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898849,nsv898848 M 6533 2 0 "" IS38078,MS21117 nsv898850 12 18992028 19055531 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585535 S 6533 1 0 "" IS37503 nsv52983 12 19030715 19030800 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71561 M 24 "" nsv509458 12 19126043 19161252 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623625 S 4 1 0 "" NA18994 nsv826275 12 19131367 19132495 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422858 S 31 1 0 "" NA18552 esv2134562 12 19140499 19140916 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885121 S 1 0 1 "" NA18507 esv2422261 12 19153698 19397638 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161295 S 181 1 0 PLEKHA5 ND03970 nsv428274 12 19207400 19416674 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452273 S 62 0 1 PLEKHA5 HGDP01094 esv2422498 12 19222190 19326762 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161313 S 181 1 0 PLEKHA5 ND01944 nsv470273 12 19254445 19469374 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546904,nssv546902,nssv546903 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLEKHA5 HGDP01279,HGDP01365,HGDP01385 nsv516362 12 19254445 19482075 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657038,nssv652831,nssv698280,nssv669090,nssv652010,nssv693870,nssv656916,nssv689796,nssv660012,nssv690561,nssv689035,nssv671767,nssv705663,nssv664802,nssv695181,nssv677444,nssv686416,nssv668242 M 2026 15 3 PLEKHA5 nsv898851 12 19255262 19426720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588881 S 6533 0 1 PLEKHA5 IS38263 esv33101 12 19262414 19704045 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99892 S 51 1 0 AEBP2,PLEKHA5 22086 esv1008021 12 19275807 19275807 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570703 S 3 1 0 PLEKHA5 HuRef esv1027404 12 19275808 19275808 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032159 S 2 1 0 PLEKHA5 HuRef nsv469131 12 19321899 19431361 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544109 S 1557 1 0 PLEKHA5 1780862015_A dgv1386n71 12 19358223 19475400 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898853,nsv898852 M 6533 4 0 PLEKHA5 IS37776,IS38380,IS39399,IS40345 dgv188n27 12 19360345 19477127 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469145,nsv469155,nsv469140,nsv469136,nsv469156,nsv469142,nsv469137,nsv469141,nsv469144,nsv469139,nsv469143 M 1557 11 0 PLEKHA5 1780854202_A,1780854219_A,1780862111_A,1780862373_A,1782681091_A,1798860210_A,HGDP01279,HGDP01385,NINDS_18,NINDS_181,NINDS_45 nsv898854 12 19384370 19464917 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585183 S 6533 1 0 PLEKHA5 IS37329 nsv832346 12 19388150 19619022 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449719 S 95 0 1 AEBP2,PLEKHA5 nsv516783 12 19532082 19535793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656630,nssv670833 M 2026 0 2 AEBP2 nsv524620 12 19574987 19725418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700581 S 2026 0 1 "" nsv630 12 19576192 19621265 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9011 S 9 0 1 "" NA12156 nsv826277 12 19577303 19578626 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432334 S 31 0 1 "" AK20 esv268788 12 19625963 19626301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2535160,essv2562117 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12874 esv2500140 12 19696903 19698024 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322971 S 1 1 0 "" NA18507 esv273411 12 19697446 19697735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580452,essv2579975,essv2580739,essv2579514 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 esv271026 12 19697457 19697747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576045,essv2540817,essv2546217,essv2526120,essv2542588,essv2536414,essv2522909,essv2543912,essv2570842,essv2556634,essv2568153,essv2545681,essv2577470,essv2570508,essv2548262,essv2521483,essv2525234,essv2535370,essv2553918,essv2552113,essv2520541,essv2547230,essv2529208,essv2558666,essv2553639,essv2559659,essv2565514,essv2520085,essv2554872,essv2562127,essv2528254,essv2546679,essv2530459,essv2540206,essv2520952,essv2557464,essv2556881,essv2552511,essv2532123,essv2562636,essv2569448,essv2578537,essv2550042,essv2537018,essv2538983,essv2569823,essv2527216,essv2561503,essv2563013,essv2553074,essv2541300,essv2524439,essv2564900,essv2539754,essv2549363,essv2522264,essv2566224,essv2531231,essv2532460,essv2567829,essv2567461,essv2541599,essv2569939,essv2535736,essv2566713,essv2550890,essv2568924,essv2543708,essv2556275,essv2527781,essv2562316,essv2534071,essv2578347,essv2573013,essv2566540,essv2555914,essv2534292,essv2571851,essv2529694,essv2575508,essv2575320,essv2538563,essv2526355,essv2560530,essv2524163,essv2574728,essv2530377,essv2572647,essv2568558,essv2545017,essv2560467,essv2549730,essv2571543,essv2545887,essv2574500,essv2551224,essv2535931,essv2537821,essv2548691,essv2548029,essv2525079,essv2557928 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07347,NA07357,NA10851,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12763,NA12776,NA12812,NA12815,NA12872,NA12874,NA12891,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18532,NA18542,NA18545,NA18555,NA18558,NA18563,NA18564,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18608,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18948,NA18956,NA18959,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv507631 12 19825804 19831804 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617827,nssv623100 M 4 2 0 "" CHM,NA18994 nsv826278 12 19841482 19843065 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433905 S 31 0 1 "" NA18526 esv1220946 12 19842789 19842789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939157 S 2 1 0 "" HuRef nsv832347 12 19938176 20116308 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449720 S 95 0 1 LOC100506393 nsv631 12 19989005 20024029 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1066 S 9 1 0 "" NA19240 esv28305 12 20134604 20135409 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11793 S 451 1 0 LOC100506393 NA12776 esv2320320 12 20134704 20135099 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855034 S 1 0 1 LOC100506393 NA18507 nsv898855 12 20169697 20246053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575502 S 6533 1 0 "" IS33760 nsv898856 12 20208468 20246053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577664 S 6533 1 0 "" IS34518 nsv519505 12 20228452 20230208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677445,nssv656445,nssv680317,nssv697407 M 2026 0 4 "" nsv527363 12 20246053 20246280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703794 S 2026 0 1 "" nsv898857 12 20250937 20314994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585032 S 6533 0 1 "" IS37226 esv271384 12 20365123 20365461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514891,essv2515431,essv2515951,essv2517317,essv2519348 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12234,NA12249,NA12873,NA18970 esv2500183 12 20378062 20381691 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229298 S 1 0 1 "" NA18507 esv2146076 12 20378533 20381039 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671754 S 1 0 1 "" NA18507 esv1326828 12 20430251 20430251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848855 S 2 1 0 PDE3A HuRef esv259567 12 20514548 20515364 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393727 S 6 0 0 Samples from several populations that are part of the HapMap project. PDE3A NA19238 esv260051 12 20514575 20515395 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399901,essv2394647,essv2401024,essv2399297,essv2396415,essv2396003 M 144 0 0 Samples from several populations that are part of the HapMap project. PDE3A NA18504,NA18870,NA19099,NA19102,NA19138,NA19238 nsv469158 12 20657826 20675028 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544123 S 1557 0 1 PDE3A 1780862001_A nsv898858 12 20667157 20683249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594208 S 6533 0 1 PDE3A IS39718 esv1015874 12 20667829 20667883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798946 S 2 0 1 PDE3A HuRef esv1692681 12 20667990 20667990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965506 S 2 1 0 PDE3A HuRef esv5808 12 20680976 20681075 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28249 S 1 1 0 PDE3A SJK esv2218919 12 20723880 20724295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564156 S 1 0 1 PDE3A NA18507 nsv634 12 20724486 20736595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1986 S 9 1 0 PDE3A NA18555 nsv635 12 20739727 20742153 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9833 S 9 1 0 SLCO1C1 NA18507 esv2037706 12 20753583 20754323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608197 S 1 0 1 SLCO1C1 NA18507 esv3591 12 20753747 20754191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26032 S 1 0 1 Single Asian sample YH SLCO1C1 YH esv2532269 12 20753801 20754138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348956 S 1 0 1 SLCO1C1 NA18507 esv990517 12 20753801 20754138 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577518 S 3 0 1 SLCO1C1 HuRef esv7360 12 20753802 20754122 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29801 S 1 0 1 SLCO1C1 SJK nsv523367 12 20754206 20754840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699116 S 2026 0 1 SLCO1C1 nsv826279 12 20775997 20777013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436104 S 31 0 1 SLCO1C1 NA18566 esv24973 12 20784121 20920446 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17347 S 451 1 0 SLCO1B3,SLCO1C1 NA18907 esv267748 12 20799920 20800261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557874,essv2575949,essv2540811,essv2546404,essv2521115,essv2526025,essv2536655,essv2544116,essv2571081,essv2556609,essv2568269,essv2531840,essv2577528,essv2570747,essv2548618,essv2521866,essv2576592,essv2550726,essv2525301,essv2534975,essv2553927,essv2544393,essv2552211,essv2547492,essv2529181,essv2558415,essv2564713,essv2553853,essv2559685,essv2565527,essv2576264,essv2519942,essv2564311,essv2554953,essv2530705,essv2561824,essv2537602,essv2528307,essv2547089,essv2532420,essv2550119,essv2561641,essv2544576,essv2562968,essv2523751,essv2552767,essv2541426,essv2538388,essv2542958,essv2524606,essv2565092,essv2534637,essv2549269,essv2519512,essv2559895,essv2566109,essv2531022,essv2532773,essv2567940,essv2567416,essv2569917,essv2563663,essv2553441,essv2572239,essv2559157,essv2543463,essv2578470,essv2573182,essv2533800,essv2555504,essv2567095,essv2566673,essv2530144,essv2557608,essv2522474,essv2531298,essv2573559,essv2543383,essv2577122,essv2572012,essv2525562,essv2526983,essv2574853,essv2536200,essv2538175,essv2533115,essv2554381,essv2547762,essv2525054,essv2563113 M 157 90 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA11995,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18505,NA18511,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18603,NA18605,NA18609,NA18638,NA18870,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18953,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19138 esv273409 12 20799920 20800261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581927,essv2582540,essv2582981 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1005353 12 20799936 20799936 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570297 S 3 1 0 "" HuRef dgv481e1 12 20833482 21009087 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6684,essv18190,essv20216,essv2083,essv11628,essv20415,essv17481,esv342,essv23025,essv23952,essv9144,essv18293,essv18711,essv17917,essv23421 M 271 0 0 SLCO1B3 NA10830,NA10846,NA10854,NA12003,NA12057,NA12144,NA12762,NA12812,NA12814,NA12874,NA18608,NA18860,NA18949,NA19154 nsv428275 12 20833482 21009087 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452277,nssv452276 M 62 2 0 SLCO1B3 NA18498,NA19113 nsv898859 12 20842004 20973543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586792 S 6533 1 0 SLCO1B3 IS37979 nsv898860 12 20855824 20907027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566425 S 6533 0 1 SLCO1B3 IS30700 esv2750761 12 20857414 20858401 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100006 S 51 0 1 SLCO1B3 22086 dgv4e24 12 20859885 20860090 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750541,esv2750640,esv2750767,esv2750775 M 51 0 4 SLCO1B3 21817,21841,22352,22394 dgv276n67 12 20860013 20874955 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826280,nsv826281 M 31 2 0 SLCO1B3 NA18582,NA18999 nsv509459 12 20876503 20922577 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623626 S 4 1 0 SLCO1B3 NA18994 dgv1387n71 12 20877170 20907835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898861,nsv898862,nsv898864,nsv898863 M 6533 0 8 SLCO1B3 IS33738,IS34530,IS39475,MS12624,MS20146,MS21905,MS23340,SP57536 nsv898865 12 20877170 20926132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546199 S 6533 0 1 SLCO1B3 MS17114 nsv898866 12 20877170 21034717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584420 S 6533 0 1 SLCO1B3 IS36990 nsv898867 12 20885202 20907027 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532273,nssv1578758,nssv1589255 M 6533 1 2 SLCO1B3 IS34896,IS38330,MS10737 nsv898868 12 20885202 20907835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536546 S 6533 0 1 SLCO1B3 MS12827 nsv898869 12 20891082 20947982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541508 S 6533 0 1 SLCO1B3 MS15341 nsv898870 12 20891853 20907027 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574210,nssv1597761,nssv1583255,nssv1600639 M 6533 3 1 SLCO1B3 IS33530,IS36364,IS41179,IS41906 nsv898871 12 20891853 20907835 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566253 S 6533 1 0 SLCO1B3 IS30620 nsv898872 12 20891853 21304899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576046,nssv1582670 M 6533 0 2 SLCO1B1,SLCO1B3,SLCO1B7 IS33864,IS36077 esv271083 12 20898107 20898437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2531816,essv2564448,essv2536847,essv2527138,essv2561662,essv2552832,essv2543025,essv2564883,essv2534917,essv2549497,essv2559843,essv2531196,essv2532796,essv2570102,essv2563756,essv2562427,essv2578114,essv2555620,essv2567214,essv2573292,essv2529450,essv2538472,essv2560762,essv2524070,essv2574709,essv2530188 M 157 26 0 Samples from several populations that are part of the HapMap project. SLCO1B3 NA12006,NA12751,NA18517,NA18522,NA18523,NA18542,NA18550,NA18558,NA18561,NA18564,NA18570,NA18573,NA18576,NA18593,NA18603,NA18909,NA18940,NA18945,NA18947,NA18969,NA19093,NA19108,NA19116,NA19129,NA19138,NA19141 dgv1388n71 12 20899271 20907027 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv898876,nsv898873 M 6533 6 25 SLCO1B3 IS30593,IS30835,IS31074,IS31194,IS31581,IS31812,IS31837,IS32015,IS32532,IS32653,IS33140,IS33475,IS33507,IS33616,IS33837,IS34407,IS34645,IS34748,IS34856,IS35189,IS35911,IS37167,IS39119,IS40368,IS40728,IS40819,MS11306,MS15749,MS18648,MS23670,SP52863 nsv898874 12 20899271 20907835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567977,nssv1583796,nssv1568578,nssv1551351,nssv1568966,nssv1567034,nssv1551801,nssv1554636,nssv1578893,nssv1568594,nssv1583070,nssv1562827 M 6533 0 12 SLCO1B3 IS31041,IS31179,IS31306,IS31307,IS31373,IS34962,IS36244,IS36656,MS18847,MS18978,MS20872,MS25751 nsv898875 12 20899271 20926132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566346,nssv1568158,nssv1567598,nssv1582988,nssv1556641,nssv1541190,nssv1568760 M 6533 0 7 SLCO1B3 IS30667,IS31123,IS31205,IS31335,IS36219,MS15199,MS22104 nsv515735 12 20901315 21311979 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690340,nssv661924,nssv657684,nssv702776,nssv686379,nssv655605,nssv701692,nssv664627 M 2026 1 7 SLCO1A2,SLCO1B1,SLCO1B3,SLCO1B7 nsv8927 12 20920993 20922216 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20336 S 31 1 0 Samples from several populations that are part of the HapMap project. SLCO1B3 NA19007 nsv8928 12 20921878 20926336 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25791 S 31 0 1 Samples from several populations that are part of the HapMap project. SLCO1B3 NA19221 nsv636 12 20933406 20965923 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10855 S 9 1 0 SLCO1B3 NA18956 nsv898877 12 20947982 21063163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553085 S 6533 0 1 SLCO1B3,SLCO1B7 MS19721 nsv438195 12 20959604 21054866 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470380,nssv470381,nssv470379 M 269 0 2 Samples from several populations that are part of the HapMap project. SLCO1B3 NA18594,NA19007 esv987963 12 20962636 20962636 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584111 S 3 1 0 "" HuRef nsv8929 12 21007080 21038983 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23546 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv469159 12 21015638 21296099 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544124 S 1557 0 1 SLCO1B1,SLCO1B7 1780862306_A nsv898878 12 21035725 21125012 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599963 S 6533 0 1 SLCO1B7 IS41819 nsv898879 12 21091356 21169459 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508173 S 6533 0 1 SLCO1B7 SP54579 nsv898880 12 21174220 21212749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541509 S 6533 0 1 SLCO1B1 MS15341 dgv1389n71 12 21185560 21212749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898881,nsv898882 M 6533 0 3 SLCO1B1 IS30532,MS12209,MS18978 nsv898883 12 21185560 21342184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519657 S 6533 0 1 SLCO1A2,SLCO1B1 SP50101 nsv898884 12 21200981 21208619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515146,nssv1508072 M 6533 0 2 SLCO1B1 SP54579,SP56126 dgv1390n71 12 21243808 21317354 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898885,nsv898887,nsv898888 M 6533 0 4 SLCO1A2,SLCO1B1 IS31044,IS31546,IS35229,IS39718 nsv898886 12 21245761 21341517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556642 S 6533 0 1 SLCO1A2,SLCO1B1 MS22104 nsv898889 12 21312610 21317354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499949 S 6533 0 1 SLCO1A2 SP50120 nsv898890 12 21312610 21333185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499231 S 6533 0 1 SLCO1A2 SP50144 dgv1391n71 12 21313520 21344622 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898891,nsv898892 M 6533 0 2 SLCO1A2 MS10203,MS25617 nsv898893 12 21336150 21344622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531546,nssv1557653 M 6533 0 2 SLCO1A2 MS10544,MS22797 esv1146701 12 21356056 21356056 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601242 S 2 1 0 SLCO1A2 HuRef nsv469161 12 21398969 21446958 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544126 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IAPP,SLCO1A2 HGDP00090 esv2750499 12 21403585 21414034 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95676 S 51 1 0 SLCO1A2 21841 nsv519603 12 21417739 21475976 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689717,nssv694851,nssv685063,nssv686273,nssv657040,nssv681212,nssv684207,nssv696927,nssv690934,nssv675430,nssv679557,nssv658295,nssv685577,nssv657859,nssv679352,nssv703997,nssv693871,nssv688022,nssv688305,nssv689968,nssv679690 M 2026 2 19 IAPP,SLCO1A2 nsv470274 12 21422704 21459317 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546905 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IAPP,SLCO1A2 HGDP00699 nsv469162 12 21423367 21459318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544127 S 1557 0 1 IAPP,SLCO1A2 NINDS_125 nsv898894 12 21436799 21474509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504051 S 6533 0 1 SLCO1A2 SP52172 nsv526789 12 21446958 21482055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703141 S 2026 0 1 PYROXD1 nsv898895 12 21452912 21513158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526318 S 6533 0 1 PYROXD1,RECQL SP57165 nsv898896 12 21452912 21586851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555601 S 6533 1 0 C12orf39,GOLT1B,GYS2,PYROXD1,RECQL MS21460 nsv469163 12 21470347 21483624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544128 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PYROXD1 HGDP01167 esv268148 12 21526196 21526528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495273,essv2504406,essv2507945,essv2499415,essv2512257,essv2503881 M 157 6 0 Samples from several populations that are part of the HapMap project. RECQL NA07037,NA11992,NA11993,NA12003,NA12044,NA12155 nsv528556 12 21556146 21571630 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705171 S 2026 1 0 C12orf39,GOLT1B nsv898897 12 21571630 21672408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574742 S 6533 0 1 C12orf39,GYS2 IS33616 nsv898898 12 21604669 21672408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555602 S 6533 1 0 GYS2 MS21460 nsv832349 12 21640360 21821962 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449722,nssv1449721,nssv1449725,nssv1449723,nssv1449724 M 95 5 0 GYS2,KCNJ8,LDHB esv1227430 12 21666693 21667012 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635196 S 2 0 1 "" HuRef nsv637 12 21684232 21716633 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5410 S 9 1 0 LDHB NA19129 esv29270 12 21706766 21708255 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12759 S 451 0 1 "" NA07037 nsv470275 12 21829811 22017581 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546906 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC9 HGDP00985 esv2109102 12 21907296 21907716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748024 S 1 0 1 ABCC9 NA18507 nsv898899 12 21915360 21935477 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562797 S 6533 0 1 ABCC9 MS25750 dgv1392n71 12 21936110 21974479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898900,nsv898901,nsv898902 M 6533 0 3 ABCC9 IS31335,IS36787,SP54030 esv2142868 12 21938552 21939006 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815257 S 1 0 1 ABCC9 NA18507 nsv53790 12 21938743 21938844 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72368 M 24 ABCC9 nsv53503 12 21959119 21959715 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72081 M 24 ABCC9 esv1937162 12 21972426 21972800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540655 S 1 0 1 ABCC9 NA18507 esv2439418 12 21976819 21977676 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382886 S 1 1 0 ABCC9 NA18507 esv270968 12 21977183 21977268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515980,essv2517603 M 157 2 0 Samples from several populations that are part of the HapMap project. ABCC9 NA12873,NA12878 esv273692 12 21977183 21977268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581589 S 7 1 0 Samples from several populations that are part of the HapMap project. ABCC9 NA12878 nsv638 12 21978139 21993559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2877 S 9 1 0 ABCC9 NA18555 nsv639 12 22002246 22044745 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6495 S 9 0 1 "" NA12156 esv269410 12 22015027 22015365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514636,essv2516711,essv2517498,essv2517109,essv2514169,essv2515480,essv2518607,essv2515034,essv2516467,essv2518050,essv2515984,essv2514282,essv2517548,essv2516261,essv2516922,essv2515795,essv2517204,essv2515254,essv2518897,essv2518353,essv2513753 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11881,NA11918,NA11931,NA12043,NA12249,NA12287,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18969,NA18970,NA19238,NA19239,NA19240 esv273061 12 22015032 22015360 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581962,essv2582331,essv2582900,essv2583955,essv2584418,essv2583710 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1386737 12 22015063 22015063 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3755197 S 2 1 0 "" HuRef esv2424645 12 22020636 22022703 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362368 S 1 0 1 "" NA18507 nsv512259 12 22020808 22022569 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624834 S 1 0 1 "" 1 esv29287 12 22020868 22022463 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18249 S 451 2 0 "" NA18517,NA19108 nsv820332 12 22020868 22022463 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420992 S 1 0 1 "" NA10851 esv1440966 12 22021655 22022477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330862 S 2 0 1 "" HuRef essv14178 12 22032101 22250748 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CMAS,ST8SIA1 NA19140 dgv482e1 12 22032101 22628174 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv453,essv10260 M 271 0 0 CMAS,KIAA0528,ST8SIA1 NA18506 nsv53830 12 22077849 22078008 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72408 M 24 "" esv988765 12 22077880 22077947 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574686 S 3 0 1 "" HuRef esv1581454 12 22077940 22078008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167096 S 2 0 1 "" HuRef esv2585568 12 22085022 22086450 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217921 S 1 0 1 "" NA18507 nsv438196 12 22086469 22125325 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470382,nssv470383,nssv470384 M 269 0 2 Samples from several populations that are part of the HapMap project. CMAS NA19141,NA19142 nsv437729 12 22125325 22159790 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467610 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 nsv437730 12 22133522 22148387 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467611 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv29374 12 22139882 22142746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17794 S 451 0 1 "" NA19225 nsv438197 12 22139915 22142636 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470391,nssv470386,nssv470390,nssv470388,nssv470389,nssv470387 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA19171,NA19173,NA19200,NA19202,NA19204,NA19205 esv2455107 12 22160694 22161967 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279934 S 1 0 1 "" NA18507 nsv521691 12 22172193 22172536 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698310 S 2026 1 0 "" esv27372 12 22213576 22217959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20241 S 451 0 1 "" NA18861 nsv521274 12 22228472 22357042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692291,nssv691620 M 2026 0 2 ST8SIA1 esv26414 12 22235399 22236314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21234 S 451 0 1 "" NA18861 esv33913 12 22307370 22313507 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98843,essv96962,essv95632,essv93658,essv97153,essv98455 M 51 6 0 ST8SIA1 21606,21817,21841,21972,22075,22352 esv269014 12 22308756 22309071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506052 S 157 1 0 Samples from several populations that are part of the HapMap project. ST8SIA1 NA18523 nsv435637 12 22309401 22315579 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466688 S 2 0 1 ST8SIA1 NA15510 esv23565 12 22310223 22315512 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13499 S 451 0 1 ST8SIA1 NA15510 essv12236 12 22333762 22472221 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ST8SIA1 NA19101 esv2644277 12 22396588 22397391 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357729 S 1 1 0 "" NA18507 nsv640 12 22438256 22485775 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5411,nssv6497,nssv1067,nssv10856,nssv1987,nssv4017 M 9 0 6 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv994006 12 22461224 22475565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565007 S 3 0 1 "" HuRef nsv8930 12 22461792 22480708 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20510,nssv21029,nssv21838,nssv23731,nssv23574 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18853,NA19132,NA19144,NA19173 nsv508667 12 22462192 22479954 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617398,nssv618859,nssv620044,nssv622655 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv22679 12 22462780 22475949 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13252 S 451 6 0 "" NA18502,NA18508,NA18861,NA19099,NA19108,NA19147 nsv821453 12 22462780 22475949 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420993 S 1 0 1 "" NA10851 nsv498783 12 22466467 22473646 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585644 S 9 0 1 "" esv1789281 12 22467005 22473645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050777 S 2 0 1 "" HuRef nsv469166 12 22509872 22557798 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544129 S 1557 0 1 KIAA0528 NINDS_145 nsv507632 12 22523026 22529026 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620495 S 4 1 0 KIAA0528 NA15510 nsv528499 12 22756692 22761409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705104 S 2026 0 1 "" nsv524506 12 22759432 22761409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700450 S 2026 0 1 "" nsv507633 12 22791673 22797673 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617828,nssv623102,nssv619066 M 4 3 0 "" CHM,NA10860,NA18994 nsv52535 12 22913839 22913839 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71113 M 24 "" esv1496486 12 22913848 22913848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238859 S 2 1 0 "" HuRef esv1361577 12 22913868 22913868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720240 S 2 1 0 "" HuRef nsv641 12 22939791 22974444 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2878 S 9 1 0 "" NA18555 dgv91n21 12 22958569 23580568 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528353,nsv519732 M 2026 2 0 SOX5 esv2435717 12 22988037 22989608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278259 S 1 0 1 "" NA18507 esv2001232 12 22988641 22989338 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830369 S 1 0 1 "" NA18507 esv7988 12 22988825 22989154 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30429 S 1 0 1 "" SJK esv2599303 12 22988827 22989158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226829 S 1 0 1 "" NA18507 dgv1393n71 12 23003596 23063540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898903,nsv898904 M 6533 0 2 "" MS18454,MS24528 dgv92n21 12 23045722 23047861 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520268,nsv525732 M 2026 0 2 "" nsv522666 12 23046972 23047861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706070 S 2026 0 1 "" esv9376 12 23144769 23144824 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31817 S 1 1 0 "" SJK nsv898905 12 23399043 23531184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552262 S 6533 0 1 "" MS19303 nsv517579 12 23474357 23500373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673174,nssv652426 M 2026 0 2 "" nsv518314 12 23537311 23539403 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695745 S 2026 1 0 "" esv2561671 12 23566570 23567621 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290924 S 1 1 0 "" NA18507 esv1395437 12 23566944 23566944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679924 S 2 1 0 "" HuRef nsv528294 12 23569189 23570012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704869 S 2026 0 1 "" nsv898906 12 23610592 23634296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535584 S 6533 0 1 SOX5 MS12266 nsv898907 12 23610592 23648512 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542309,nssv1589256 M 6533 1 1 SOX5 IS38330,MS15749 nsv898908 12 23623656 23652526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558999 S 6533 0 1 SOX5 MS23670 nsv818896 12 23624709 23625382 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417584 S 112 1 0 SOX5 NA18972 nsv832350 12 23626836 23808821 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449726 S 95 0 1 SOX5 nsv470276 12 23637697 23673994 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546907 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SOX5 HGDP00907 nsv898909 12 23661620 23693243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553834 S 6533 0 1 SOX5 MS20346 nsv898910 12 23668733 23727479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582402 S 6533 0 1 SOX5 IS35924 nsv832351 12 23672999 23867574 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449727,nssv1449730,nssv1449729 M 95 2 1 SOX5 esv4942 12 23686957 23687473 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27383 S 1 0 1 Single Asian sample YH SOX5 YH nsv469167 12 23727479 23751907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544130 S 1557 0 1 SOX5 NINDS_106 esv2090158 12 23770134 23770551 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948937 S 1 0 1 SOX5 NA18507 nsv898911 12 23813876 23895828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551803 S 6533 0 1 SOX5 MS18978 nsv826282 12 23830712 23831369 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428818,nssv1436105,nssv1423678,nssv1439188 M 31 0 4 SOX5 NA18566,NA18968,NA18973,NA18999 esv3340 12 23830741 23831431 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25781 S 1 0 1 Single Asian sample YH SOX5 YH esv1006653 12 23830788 23831354 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584725 S 3 0 1 SOX5 HuRef esv33613 12 23830794 23831195 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98802,essv97008,essv99005,essv93787,essv97129,essv98352 M 51 6 0 SOX5 21606,21817,21938,21972,22075,22352 esv26543 12 23830798 23831315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15625 S 451 0 2 SOX5 NA12878,NA18861 nsv898912 12 23875709 23973633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517884 S 6533 0 1 SOX5 SP57401 nsv433520 12 23900409 23914981 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463401 S 9 0 1 Samples from several populations that are part of the HapMap project. SOX5 NA18956 nsv525031 12 23905336 23907449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701072 S 2026 0 1 SOX5 esv269413 12 23911197 23911457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508039,essv2508560,essv2499524,essv2513091 M 157 4 0 Samples from several populations that are part of the HapMap project. SOX5 NA07357,NA10847,NA12045,NA12717 nsv898913 12 23924492 24008700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551804 S 6533 0 1 SOX5 MS18978 nsv898914 12 24008700 24057333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513961 S 6533 0 1 SOX5 SP55878 nsv518599 12 24030629 24031025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694252 S 2026 0 1 SOX5 esv1146003 12 24051358 24051358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686679 S 2 1 0 SOX5 HuRef esv34159 12 24055355 24204986 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SOX5 nsv642 12 24068785 24113562 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9012 S 9 0 1 SOX5 NA12156 nsv898915 12 24071853 24091967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600371 S 6533 0 1 SOX5 IS41874 nsv898916 12 24071853 24170440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504278 S 6533 1 0 SOX5 SP52390 nsv898917 12 24187143 24446708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504279 S 6533 1 0 MIR920,SOX5 SP52390 esv2016346 12 24221767 24222191 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672971 S 1 0 1 SOX5 NA18507 esv270196 12 24264560 24264676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496392,essv2496244,essv2494921,essv2505178,essv2503452 M 157 5 0 Samples from several populations that are part of the HapMap project. SOX5 NA18510,NA18511,NA18520,NA18853,NA18947 nsv469168 12 24295264 24326688 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544131 S 1557 0 1 SOX5 1780862194_A esv993084 12 24321647 24321647 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570708 S 3 1 0 SOX5 HuRef esv1554693 12 24321656 24321656 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115142 S 2 1 0 SOX5 HuRef esv267491 12 24342962 24343302 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519194,essv2514709,essv2517901,essv2517885,essv2516178,essv2516893 M 157 6 0 Samples from several populations that are part of the HapMap project. SOX5 NA11894,NA12234,NA12872,NA12878,NA12891,NA12892 esv272487 12 24342970 24343298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582030,essv2582696,essv2583173 M 7 3 0 Samples from several populations that are part of the HapMap project. SOX5 NA12878,NA12891,NA12892 esv5104 12 24351633 24352107 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27545 S 1 0 1 Single Asian sample YH SOX5 YH esv9507 12 24351668 24351950 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31948 S 1 0 1 SOX5 SJK nsv519893 12 24372728 24389832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697110 S 2026 0 1 SOX5 esv268761 12 24409859 24410200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557905,essv2565623,essv2536705,essv2545621,essv2523179,essv2531744,essv2548404,essv2544328,essv2552174,essv2558632,essv2564497,essv2547079,essv2557486,essv2552534,essv2538976,essv2523565,essv2540317,essv2549447,essv2519502,essv2522030,essv2565953,essv2531060,essv2532521,essv2567772,essv2569948,essv2535684,essv2562443,essv2578165,essv2572963,essv2555199,essv2566567,essv2530017,essv2573914,essv2534345,essv2522647,essv2531531,essv2543285,essv2526836,essv2524008,essv2545945,essv2574449,essv2551569,essv2536100,essv2538112 M 157 44 0 Samples from several populations that are part of the HapMap project. SOX5 NA06986,NA07000,NA10851,NA11829,NA11920,NA12003,NA12004,NA12006,NA12045,NA12414,NA12489,NA12750,NA12751,NA12892,NA18499,NA18502,NA18519,NA18537,NA18552,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18593,NA18608,NA18909,NA18940,NA18942,NA18943,NA18948,NA18949,NA18951,NA18959,NA18960,NA18961,NA18965,NA19005,NA19129,NA19239,NA19240,NA19257 esv272574 12 24409859 24410205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583237,essv2584441,essv2583786 M 7 3 0 Samples from several populations that are part of the HapMap project. SOX5 NA12892,NA19239,NA19240 esv2422312 12 24410659 25112953 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161530 S 181 1 0 BCAT1,C12orf77,LINC00477,LRMP,SOX5 ND03463 nsv643 12 24420618 24450987 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5412 S 9 1 0 SOX5 NA19129 nsv832352 12 24426090 24627807 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449731 S 95 1 0 LINC00477,SOX5 nsv898918 12 24457992 24513427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564147 S 6533 0 1 SOX5 IS30171 nsv898919 12 24499217 24523349 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504280 S 6533 1 0 SOX5 SP52390 nsv898920 12 24540130 25038459 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504281 S 6533 1 0 BCAT1,C12orf77,LINC00477,SOX5 SP52390 nsv645 12 24575181 24614688 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6498 S 9 0 1 LINC00477,SOX5 NA12156 nsv469169 12 24583650 25248947 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544132 S 1557 1 0 BCAT1,C12orf77,CASC1,LINC00477,LRMP,LYRM5,SOX5 NINDS_249 esv987765 12 24759859 24761788 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563760 S 3 1 0 "" HuRef esv268394 12 24759946 24766054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511027,essv2508568,essv2505072,essv2495035 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11831,NA12717,NA12828 nsv470278 12 24769858 24816506 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546908 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00451 nsv469173 12 24782442 25098920 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544135 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BCAT1,C12orf77,LRMP HGDP01379 nsv826283 12 24793421 24856646 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441402 S 31 0 1 BCAT1 NA18969 esv2203819 12 24806372 24806799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662029 S 1 0 1 "" NA18507 esv26331 12 24832076 24832991 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17404 S 451 0 4 "" NA11931,NA12006,NA12749,NA12776 nsv527424 12 24846320 24846442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703862 S 2026 0 1 "" nsv819279 12 24856724 24857164 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418953 S 2 0 1 BCAT1 AK1 nsv646 12 24939104 24954110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2879 S 9 1 0 BCAT1 NA18555 nsv520878 12 24946158 24947332 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678592,nssv676845 M 2026 0 2 BCAT1 nsv832353 12 24952087 25011242 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449733,nssv1449732,nssv1449734,nssv1449737,nssv1449735,nssv1449736 M 95 6 0 BCAT1 nsv525641 12 24979579 24981353 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701795 S 2026 1 0 BCAT1 nsv898921 12 24998228 25076163 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512726 S 6533 1 0 C12orf77 SP55597 nsv469174 12 25020282 25048396 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544136 S 1557 0 1 C12orf77 1780854339_A nsv525326 12 25078437 25082058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701436 S 2026 0 1 "" nsv507634 12 25081583 25087583 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620496,nssv619067,nssv623103 M 4 3 0 "" NA10860,NA15510,NA18994 nsv52528 12 25096052 25104876 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71106 M 24 LRMP esv2521669 12 25121097 25122049 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239758 S 1 1 0 LRMP NA18507 esv1073866 12 25121475 25121475 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031128 S 2 1 0 LRMP HuRef esv1691407 12 25121486 25121486 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849416 S 2 1 0 LRMP HuRef dgv483e1 12 25125048 25143445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5704,esv1291 M 271 0 0 LRMP NA18550 esv2471634 12 25154739 25156227 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219020 S 1 0 1 CASC1 NA18507 nsv515612 12 25163294 25232444 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664102,nssv688328,nssv692203 M 2026 3 0 CASC1 nsv898922 12 25165860 25299314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579859,nssv1591751 M 6533 0 2 CASC1,KRAS,LYRM5 IS35181,IS39011 esv2652823 12 25176181 25177732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347047 S 1 0 1 CASC1 NA18507 esv2064539 12 25176480 25177339 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755290 S 1 0 1 CASC1 NA18507 nsv53768 12 25176687 25177145 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72346 M 24 CASC1 dgv1394n71 12 25248947 25299314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898926,nsv898925,nsv898924,nsv898923 M 6533 0 9 KRAS,LYRM5 IS30532,IS30969,IS31205,IS31563,IS37393,IS38183,IS40067,MS18847,SP54030 nsv470279 12 25275925 25290388 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546910 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KRAS HGDP00942 nsv898927 12 25280487 25299314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554215 S 6533 0 1 KRAS MS20670 nsv522233 12 25283549 25288549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695011 S 2026 0 1 KRAS esv23294 12 25346778 25360617 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10137 S 451 1 0 "" NA07037 nsv898928 12 25349621 25390609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541191 S 6533 0 1 "" MS15199 nsv647 12 25350047 25383158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1068 S 9 1 0 "" NA19240 esv271068 12 25354176 25354518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514570,essv2519232,essv2517463,essv2514085,essv2514752,essv2515519,essv2515072,essv2516360,essv2516013,essv2514350,essv2517742,essv2519377,essv2513730 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11894,NA11918,NA12043,NA12234,NA12249,NA12812,NA12814,NA12873,NA12874,NA12878 esv272970 12 25354176 25354518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581308 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv1395n71 12 25390609 25537084 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898930,nsv898929 M 6533 2 0 IFLTD1 IS36117,IS36173 esv2618046 12 25390862 25391286 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331498 S 1 1 0 "" NA18507 nsv513357 12 25390870 25391090 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625750 S 1 1 0 "" 1 nsv515959 12 25439546 25441894 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665474,nssv655824 M 2026 0 2 "" esv29103 12 25486111 25486589 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11663 S 451 1 0 "" NA11993 esv2417350 12 25494887 25495291 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977804 S 1 0 1 "" NA18507 esv1493493 12 25495082 25495143 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060648 S 2 0 1 "" HuRef esv21824 12 25525290 25528357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16463 S 451 0 2 IFLTD1 NA19108,NA19147 nsv520540 12 25525442 25527287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672304,nssv676981,nssv684392,nssv676412 M 2026 0 4 IFLTD1 nsv519712 12 25540624 25543709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657805,nssv681275,nssv672945,nssv675759,nssv691141 M 2026 0 5 IFLTD1 dgv484e1 12 25540624 25545712 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19857,esv1278 M 271 0 0 IFLTD1 NA12234 esv2488733 12 25560620 25562275 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176890 S 1 0 1 IFLTD1 NA18507 esv1242262 12 25561289 25561760 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147601 S 2 0 1 IFLTD1 HuRef nsv437731 12 25563026 25571434 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467612 S 60 0 1 Samples from several populations that are part of the HapMap project. IFLTD1 NA19208 esv268649 12 25568827 25568938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510792,essv2501166,essv2497479,essv2501945 M 157 4 0 Samples from several populations that are part of the HapMap project. IFLTD1 NA18501,NA18516,NA19147,NA19239 esv273616 12 25568827 25569068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579359 S 7 1 0 Samples from several populations that are part of the HapMap project. IFLTD1 NA19239 esv5503 12 25609702 25640898 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27944 S 1 0 0 IFLTD1 SJK esv270487 12 25612012 25612349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504016 S 157 1 0 Samples from several populations that are part of the HapMap project. IFLTD1 hapmap_pooled_sample_set esv260076 12 25634255 25635460 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400043,essv2396719,essv2395551,essv2400390,essv2395809,essv2396990 M 144 0 0 Samples from several populations that are part of the HapMap project. IFLTD1 NA07051,NA11831,NA18593,NA18960,NA18961,NA18973 nsv509460 12 25666235 25693395 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618091 S 4 1 0 IFLTD1 CHM esv268731 12 25667079 25673142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501657,essv2502912,essv2495878,essv2496751,essv2510739,essv2502980,essv2504743,essv2506945,essv2498727,essv2497598 M 157 10 0 Samples from several populations that are part of the HapMap project. IFLTD1 NA12144,NA12156,NA12489,NA18498,NA18501,NA18507,NA19099,NA19102,NA19138,NA19147 nsv832354 12 25676412 25873288 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449741,nssv1449738 M 95 2 0 IFLTD1 nsv826284 12 25819026 25819495 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439189 S 31 0 1 "" NA18973 esv27219 12 25847155 25850416 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11767 S 451 0 2 "" NA07037,NA12414 dgv485e1 12 25883598 26052383 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv123,essv19106 M 271 0 0 LOC100506451,MIR4302,RASSF8 NA07055 nsv522358 12 25897333 25904280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695139 S 2026 0 1 "" nsv528977 12 25924553 25925920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705676 S 2026 0 1 "" esv26656 12 26000113 26006177 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17456,esv10767 M 451 1 1 LOC100506451,RASSF8 NA07045,NA12776 nsv898931 12 26014612 26084203 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582830 S 6533 1 0 RASSF8 IS36173 nsv433521 12 26018497 26024052 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463402 S 9 0 1 Samples from several populations that are part of the HapMap project. RASSF8 NA18956 nsv517117 12 26018497 26025192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654048,nssv687881,nssv655898,nssv677123,nssv687789,nssv656088,nssv653814,nssv675385,nssv683463,nssv667311,nssv672757,nssv667377,nssv676574,nssv690755,nssv660777,nssv668897 M 2026 0 16 RASSF8 nsv522351 12 26018497 26040970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694158 S 2026 0 1 RASSF8 esv1625213 12 26117976 26117976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840583 S 2 1 0 RASSF8 HuRef dgv1396n71 12 26153404 26176273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898932,nsv898933 M 6533 0 2 BHLHE41 SP54725,SP54956 nsv648 12 26221558 26266453 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9014 S 9 0 1 SSPN NA12156 esv2579102 12 26401712 26403267 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359243 S 1 0 1 ITPR2 NA18507 esv2257606 12 26402104 26402827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750987 S 1 0 1 ITPR2 NA18507 esv1000864 12 26402200 26403111 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565058 S 3 0 1 ITPR2 HuRef esv4216 12 26402258 26402779 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26657 S 1 0 1 Single Asian sample YH ITPR2 YH esv993210 12 26402297 26402628 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583256 S 3 0 1 ITPR2 HuRef esv6587 12 26402300 26402620 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29028 S 1 0 1 ITPR2 SJK esv2519123 12 26402300 26402631 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351260 S 1 0 1 ITPR2 NA18507 esv1263874 12 26402304 26402636 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180252 S 2 0 1 ITPR2 HuRef nsv524588 12 26424670 26425333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700547 S 2026 0 1 ITPR2 nsv649 12 26428646 26460391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1988 S 9 1 0 ITPR2 NA18555 nsv832355 12 26524738 26700467 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449742 S 95 1 0 ITPR2 esv1562553 12 26541692 26541692 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068263 S 2 1 0 ITPR2 HuRef esv268924 12 26588842 26588927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514138,essv2514993,essv2518122,essv2516147,essv2517556 M 157 5 0 Samples from several populations that are part of the HapMap project. ITPR2 NA12043,NA12812,NA12872,NA12873,NA12878 esv272411 12 26588842 26588927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581603 S 7 1 0 Samples from several populations that are part of the HapMap project. ITPR2 NA12878 nsv898934 12 26702083 26743527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534642 S 6533 0 1 ITPR2 MS11703 esv1705858 12 26820147 26820147 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847349 S 2 1 0 ITPR2 HuRef esv2633425 12 26849613 26850436 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356204 S 1 1 0 ITPR2 NA18507 esv273704 12 26849900 26850065 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580471,essv2580009,essv2580848,essv2579238,essv2579531 M 7 5 0 Samples from several populations that are part of the HapMap project. ITPR2 NA12891,NA12892,NA19238,NA19239,NA19240 esv269318 12 26849900 26850088 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510173,essv2511194,essv2508031,essv2501674,essv2505549,essv2508503,essv2502544,essv2503782,essv2508814,essv2500329,essv2510636,essv2496566,essv2498303,essv2494560,essv2497749,essv2500025,essv2508268,essv2507859,essv2511365,essv2494478,essv2507617,essv2508166,essv2509970,essv2496083,essv2512874,essv2507475,essv2501032,essv2495557,essv2511102,essv2497375,essv2495121,essv2502720,essv2500752,essv2505577,essv2501500,essv2504848,essv2510809,essv2509483,essv2498813,essv2497463,essv2511952,essv2501963,essv2498244,essv2502068,essv2511523 M 157 45 0 Samples from several populations that are part of the HapMap project. ITPR2 NA07346,NA10851,NA11931,NA12003,NA12144,NA12154,NA12717,NA12750,NA12761,NA12878,NA12891,NA18501,NA18510,NA18526,NA18550,NA18555,NA18558,NA18561,NA18564,NA18570,NA18572,NA18576,NA18579,NA18593,NA18603,NA18609,NA18638,NA18856,NA18916,NA18944,NA18959,NA18964,NA18965,NA18973,NA19005,NA19093,NA19099,NA19116,NA19129,NA19138,NA19147,NA19238,NA19239,NA19240,NA19257 esv2653675 12 26868066 26869490 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376989 S 1 0 1 ITPR2 NA18507 nsv898935 12 26934409 27021216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565880 S 6533 0 1 C12orf11,FGFR1OP2,TM7SF3 IS30532 dgv1397n71 12 26984238 27021216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898936,nsv898937 M 6533 0 7 FGFR1OP2,TM7SF3 IS30616,IS31070,IS31187,IS37393,IS39243,MS13154,MS23670 nsv898938 12 26984238 27034775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570246 S 6533 0 1 FGFR1OP2,TM7SF3 IS31837 esv2509925 12 27021484 27023416 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262796 S 1 0 1 TM7SF3 NA18507 esv2196642 12 27022145 27023509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648208 S 1 0 1 TM7SF3 NA18507 nsv523964 12 27052396 27053543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699814 S 2026 0 1 TM7SF3 nsv898939 12 27090447 27196145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592685 S 6533 1 0 C12orf71 IS39243 nsv53319 12 27106627 27106795 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71897 M 24 "" nsv832356 12 27118051 27310617 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449743 S 95 1 0 C12orf71,STK38L nsv521872 12 27158221 27679741 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694644 S 2026 1 0 ARNTL2,C12orf70,PPFIBP1,STK38L nsv898940 12 27174719 27688287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512669 S 6533 0 1 ARNTL2,C12orf70,PPFIBP1,STK38L SP55571 nsv436825 12 27180171 27686779 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466690 S 2 1 0 Samples from several populations that are part of the HapMap project. ARNTL2,C12orf70,PPFIBP1,STK38L NA18505 esv997751 12 27324607 27325754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564549 S 3 0 1 STK38L HuRef esv2598897 12 27324851 27326359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333908 S 1 0 1 STK38L NA18507 esv2395169 12 27325063 27325796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616267 S 1 0 1 STK38L NA18507 esv4652 12 27325220 27325738 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27093 S 1 0 1 Single Asian sample YH STK38L YH esv996338 12 27325262 27325592 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584433 S 3 0 1 STK38L HuRef esv7285 12 27325263 27325581 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29726 S 1 0 1 STK38L SJK esv1525868 12 27325270 27325601 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288724 S 2 0 1 STK38L HuRef nsv469175 12 27333099 27384005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544137 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARNTL2,STK38L HGDP00557 esv270213 12 27392602 27392997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511608,essv2495955 M 157 2 0 Samples from several populations that are part of the HapMap project. ARNTL2 NA18940,NA18961 esv272753 12 27403143 27403501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579365 S 7 1 0 Samples from several populations that are part of the HapMap project. ARNTL2 NA19239 nsv832357 12 27444118 27483233 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449745,nssv1449744 M 95 2 0 ARNTL2 nsv650 12 27454680 27488659 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1069 S 9 1 0 ARNTL2 NA19240 nsv523517 12 27517154 27525477 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699290 S 2026 1 0 C12orf70 nsv437732 12 27520009 27546667 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467613 S 60 0 1 Samples from several populations that are part of the HapMap project. C12orf70 NA19145 nsv519752 12 27522647 27525477 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658144,nssv692776,nssv701781,nssv678964,nssv690095 M 2026 4 1 C12orf70 dgv36n17 12 27530251 27551070 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437737,nsv437736,nsv437734,nsv437733 M 60 0 4 C12orf70 NA18857,NA19154,NA19173,NA19240 nsv438198 12 27532740 27533809 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470392,nssv470393 M 269 0 2 Samples from several populations that are part of the HapMap project. C12orf70 NA19171,NA19173 nsv651 12 27534407 27564651 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1071 S 9 0 1 C12orf70 NA19240 dgv16n64 12 27537993 27545813 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818897,nsv818898 M 112 0 6 C12orf70 NA18515,NA18516,NA18517,NA19143,NA19144,NA19145 nsv442638 12 27539008 27542629 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C12orf70 esv2421622 12 27539008 27545813 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117597,essv5020686,essv5073077,essv5076649,essv5104696,essv5033228,essv5045280,essv5053199,essv5048354,essv5009415,essv5109058,essv5013678,essv5140242,essv5129261,essv5121485,essv5092989,essv5014889,essv5024196,essv5102333,essv5063851,essv5102357,essv5128716,essv5051392,essv5133737,essv5112405,essv5159979,essv5042846,essv5004940,essv5076676,essv5086256,essv5070311,essv5044931,essv5084878,essv5060194,essv5080783,essv5076085,essv5125357,essv5101740,essv5146411,essv5128421,essv5088087,essv5120965,essv5089450,essv5105919,essv5017372,essv5113512,essv5111318,essv5066277,essv5144330,essv5021446,essv5015285,essv5138244,essv5138712,essv5056988,essv5015348,essv5097654,essv5031433,essv5023678,essv5016296,essv5131761,essv5025774,essv5155170,essv5004962,essv5111026,essv5154978,essv5154574,essv5095544,essv5155427,essv5149766,essv5073812,essv5128475,essv5055748,essv5074583,essv5060871,essv5129354,essv5021541,essv5056677,essv5031551,essv5038983,essv5042739,essv5033403,essv5027949,essv5029217,essv5108290,essv5096324,essv5116296,essv5143895,essv5082960,essv5104343,essv5127741,essv5135326,essv5004865,essv5059175,essv5032555,essv5027018,essv5083418,essv5063356,essv5063228,essv5133669,essv5045236,essv5036361,essv5005055,essv5111308,essv5032282,essv5003872,essv5145897,essv5050112,essv5040258,essv5034000,essv5084094,essv5111395,essv5128576,essv5158000,essv5060053,essv5104454,essv5032246 M 1184 0 116 C12orf70 NA10856,NA11829,NA12003,NA12154,NA12777,NA12877,NA12889,NA18515,NA18516,NA18517,NA18855,NA18857,NA18874,NA18875,NA18916,NA18917,NA18933,NA18934,NA18935,NA19031,NA19035,NA19036,NA19041,NA19094,NA19108,NA19109,NA19113,NA19115,NA19122,NA19123,NA19141,NA19143,NA19144,NA19152,NA19154,NA19160,NA19161,NA19171,NA19173,NA19176,NA19197,NA19199,NA19224,NA19225,NA19239,NA19240,NA19256,NA19257,NA19308,NA19313,NA19315,NA19352,NA19360,NA19375,NA19446,NA19468,NA19651,NA19653,NA19676,NA19701,NA19702,NA19703,NA19705,NA19708,NA19712,NA19789,NA19790,NA19819,NA19917,NA19918,NA20126,NA20127,NA20128,NA20129,NA20281,NA20287,NA20288,NA20300,NA20335,NA20340,NA20345,NA20522,NA20544,NA20761,NA20766,NA20778,NA20792,NA20810,NA20819,NA20890,NA20896,NA20898,NA21092,NA21112,NA21142,NA21333,NA21339,NA21359,NA21361,NA21435,NA21441,NA21442,NA21454,NA21455,NA21489,NA21493,NA21494,NA21574,NA21578,NA21596,NA21599,NA21647,NA21648,NA21686,NA21716,NA21740 nsv8931 12 27539237 27546535 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22943,nssv21059,nssv23853,nssv21868 M 31 0 4 Samples from several populations that are part of the HapMap project. C12orf70 NA18517,NA19144,NA19173,NA19240 esv28340 12 27539392 27546448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14770 S 451 0 6 C12orf70 NA12004,NA18517,NA18916,NA19108,NA19225,NA19240 nsv498784 12 27539409 27546432 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585645 S 9 0 1 C12orf70 nsv514659 12 27539606 27546370 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628139 S 1414 0 1 C12orf70 dgv486e1 12 27539678 27542418 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20851,esv975,essv13959 M 271 0 0 C12orf70 NA11829,NA19160 nsv517383 12 27539678 27545813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693030,nssv658872,nssv667083,nssv676075,nssv687862,nssv682461,nssv667720,nssv669742,nssv683916,nssv676317,nssv675499,nssv658929,nssv674927,nssv656669,nssv662193,nssv689746,nssv651863,nssv676926,nssv688256,nssv652454,nssv664974,nssv656391,nssv684393,nssv655899,nssv686703,nssv664378,nssv654774,nssv680123,nssv671700,nssv663440,nssv685415,nssv679943 M 2026 0 32 C12orf70 nsv438199 12 27539977 27545038 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470395,nssv470410,nssv470404,nssv470405,nssv470402,nssv470409,nssv470399,nssv470394,nssv470398,nssv470400,nssv470401,nssv470406,nssv470397,nssv470403 M 269 0 14 Samples from several populations that are part of the HapMap project. C12orf70 NA18515,NA18855,NA18857,NA19099,NA19100,NA19143,NA19145,NA19152,NA19154,NA19160,NA19171,NA19173,NA19239,NA19240 nsv832358 12 27563216 27749639 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449746 S 95 1 0 PPFIBP1,REP15 nsv520981 12 27590587 27601182 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694411 S 2026 0 1 PPFIBP1 esv2168060 12 27602523 27602991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763518 S 1 0 1 PPFIBP1 NA18507 esv5097 12 27602622 27602882 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27538 S 1 0 1 Single Asian sample YH PPFIBP1 YH dgv7e197 12 27602684 27602796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2639403,esv2487086 M 1 0 1 PPFIBP1 NA18507 nsv898941 12 27631260 27667171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516797 S 6533 1 0 PPFIBP1 SP56937 dgv189n27 12 27638020 27723575 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469177,nsv469176 M 1557 2 0 PPFIBP1 HGDP00693,HGDP00733 nsv470280 12 27646725 27719875 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546911 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPFIBP1 HGDP00693 esv25573 12 27679968 27683730 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10307,esv12518 M 451 0 3 PPFIBP1 NA11931,NA12878,NA18505 nsv521002 12 27689411 27691713 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694412 S 2026 0 1 PPFIBP1 nsv469178 12 27740050 27806212 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544140 S 1557 1 0 MRPS35,REP15 1780862457_A esv270584 12 27756042 27756388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557782,essv2565768,essv2546567,essv2526291,essv2542310,essv2536752,essv2543864,essv2570866,essv2568117,essv2545367,essv2523474,essv2577553,essv2570681,essv2548610,essv2521712,essv2576665,essv2550803,essv2535464,essv2520488,essv2529283,essv2564381,essv2578072,essv2553560,essv2576138,essv2530724,essv2561815,essv2537271,essv2528225,essv2546692,essv2540156,essv2557044,essv2552739,essv2551781,essv2569473,essv2578692,essv2558791,essv2527290,essv2561736,essv2544596,essv2562866,essv2523938,essv2552804,essv2541183,essv2542835,essv2524396,essv2565185,essv2534883,essv2539764,essv2522112,essv2566059,essv2532793,essv2567456,essv2541815,essv2553308,essv2535789,essv2566706,essv2556180,essv2528052,essv2562294,essv2539481,essv2534074,essv2578463,essv2555371,essv2533781,essv2555728,essv2567061,essv2566376,essv2530148,essv2574003,essv2555823,essv2522368,essv2531586,essv2573497,essv2543046,essv2576983,essv2525621,essv2526906,essv2575507,essv2575332,essv2538798,essv2526718,essv2560579,essv2524134,essv2560318,essv2571398,essv2545877,essv2574274,essv2551619,essv2536310,essv2537963,essv2547674 M 157 91 0 Samples from several populations that are part of the HapMap project. MRPS35 NA06986,NA07000,NA07347,NA10851,NA11829,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12716,NA12749,NA12751,NA12761,NA12763,NA12814,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18501,NA18502,NA18504,NA18508,NA18510,NA18516,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18555,NA18558,NA18561,NA18563,NA18571,NA18572,NA18576,NA18582,NA18592,NA18605,NA18608,NA18853,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19190,NA19238,NA19239,NA19240,NA19257 esv272743 12 27756045 27756389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581646,essv2582335,essv2583260,essv2583982,essv2584618,essv2583545 M 7 6 0 Samples from several populations that are part of the HapMap project. MRPS35 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv826285 12 27803996 27805252 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434638 S 31 0 1 "" NA18570 esv28802 12 27824072 27825212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18677 S 451 0 1 KLHDC5 NA07045 esv2486894 12 27878582 27879923 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392989 S 1 0 1 "" NA18507 nsv528604 12 27951898 27954018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705230 S 2026 0 1 "" nsv436161 12 27981026 27987804 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466691 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv437738 12 27984381 27990663 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467619 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv2421715 12 27986760 27988911 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5144338,essv5144657,essv5098934,essv5142079,essv5149439,essv5045829,essv5004661,essv5113765,essv5107282,essv5145342,essv5129216,essv5153104,essv5116660,essv5151193,essv5060578,essv5146202,essv5040386,essv5089090,essv5135579,essv5124284,essv5128186,essv5160200,essv5086032,essv5123239,essv5151641,essv5006678,essv5134253,essv5085467,essv5093774,essv5152478,essv5115123,essv5002653,essv5018095,essv5010790,essv5146367,essv5015991,essv5119935,essv5042430,essv5155530,essv5122949,essv5126375,essv5154314,essv5036898,essv5115117,essv5097209,essv5127952,essv5088434,essv5129082,essv5027620,essv5099982,essv5085252,essv5002996,essv5012985,essv5013458,essv5154035,essv5044766,essv5009601,essv5033701,essv5109276,essv5040766,essv5060200,essv5140966,essv5138650,essv5081455,essv5134662,essv5144925,essv5081466,essv5074913,essv5106827,essv5124749,essv5139950,essv5030508,essv5141145,essv5067617,essv5019397,essv5108995,essv5093465,essv5122003,essv5100395,essv5018023,essv5036691,essv5041541,essv5142066,essv5026861,essv5149073,essv5113311,essv5083695,essv5118603,essv5093491,essv5017996,essv5142745,essv5063787,essv5141656,essv5083258,essv5067047,essv5095861,essv5027127,essv5063492,essv5058013,essv5107974,essv5079685,essv5074331,essv5029991,essv5121320,essv5034810,essv5081936,essv5021533,essv5141213,essv5100831,essv5019569,essv5056948,essv5013749,essv5012241,essv5086743,essv5116304,essv5089604,essv5108402,essv5042685,essv5105219,essv5126126,essv5073298,essv5038122,essv5081665,essv5108231,essv5003936,essv5124021,essv5148351,essv5080858,essv5071248,essv5119828,essv5095289,essv5071531,essv5151104,essv5098417,essv5135728,essv5060391,essv5058339,essv5138718,essv5009306,essv5143487 M 1184 0 140 "" NA06985,NA10838,NA10839,NA10846,NA10859,NA10863,NA11881,NA12003,NA12006,NA12043,NA12145,NA12239,NA12249,NA12264,NA12740,NA12751,NA12777,NA12873,NA12890,NA17966,NA17972,NA17976,NA17979,NA17981,NA17986,NA17995,NA17996,NA17998,NA18108,NA18114,NA18127,NA18131,NA18136,NA18139,NA18140,NA18148,NA18151,NA18159,NA18160,NA18500,NA18546,NA18552,NA18562,NA18571,NA18577,NA18596,NA18597,NA18608,NA18610,NA18612,NA18613,NA18614,NA18619,NA18621,NA18623,NA18633,NA18635,NA18647,NA18670,NA18702,NA18740,NA18747,NA18939,NA18942,NA18945,NA18949,NA18951,NA18953,NA18960,NA18969,NA18971,NA18975,NA18979,NA18991,NA18993,NA19054,NA19056,NA19063,NA19066,NA19085,NA19086,NA19099,NA19152,NA19154,NA19226,NA19625,NA19654,NA19675,NA19678,NA19680,NA19718,NA19719,NA19720,NA19721,NA19722,NA19746,NA19749,NA19755,NA19757,NA19762,NA19771,NA19773,NA19783,NA19784,NA19788,NA19790,NA19795,NA19796,NA20337,NA20505,NA20515,NA20528,NA20535,NA20540,NA20796,NA20808,NA20826,NA20845,NA20847,NA20849,NA20852,NA20856,NA20858,NA20876,NA20885,NA20887,NA20891,NA20894,NA20900,NA21099,NA21100,NA21104,NA21108,NA21113,NA21137,NA21528,NA21634,NA21635,NA21636,NA21768 nsv442639 12 27986760 27988911 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv277n67 12 27986816 27989622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826288,nsv826286 M 31 0 6 "" AK14,NA18552,NA18942,NA18949,NA18951,NA18969 nsv514660 12 27986826 27989356 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628140 S 1414 0 1 "" esv23102 12 27986837 27989532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11916 S 451 0 5 "" NA06985,NA12006,NA12239,NA18502,NA19099 esv269599 12 28054558 28054907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571776,essv2570896,essv2545662,essv2531874,essv2577234,essv2570500,essv2535097,essv2547438,essv2564621,essv2576183,essv2530633,essv2544709,essv2538237,essv2542975,essv2524386,essv2534890,essv2559938,essv2522088,essv2532922,essv2568030,essv2541728,essv2570259,essv2533776,essv2555679,essv2529919,essv2531582 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11993,NA12003,NA12006,NA12043,NA12044,NA12249,NA12717,NA12751,NA12814,NA12873,NA18526,NA18547,NA18550,NA18555,NA18561,NA18570,NA18571,NA18576,NA18577,NA18592,NA18593,NA18944,NA18945,NA18949,NA18961 esv275184 12 28062218 28064462 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585600,essv2585598 M 1250 1 1 "" nsv522148 12 28091505 28091579 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694922 S 2026 1 0 "" nsv652 12 28099880 28120361 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1989,nssv1072 M 9 2 0 "" NA18555,NA19240 nsv509461 12 28109520 28121319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623627 S 4 1 0 "" NA18994 nsv898942 12 28135765 28228649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585365,nssv1600241 M 6533 0 2 "" IS37428,IS41862 esv2623612 12 28141810 28143116 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164585 S 1 0 1 "" NA18507 nsv826289 12 28153828 28154349 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439190 S 31 0 1 "" NA18973 esv273956 12 28165824 28166161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582147,essv2582529,essv2582943 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271339 12 28165830 28166163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546468,essv2521457,essv2556738,essv2568106,essv2523113,essv2577643,essv2548503,essv2535286,essv2553953,essv2547313,essv2529232,essv2564553,essv2564099,essv2530850,essv2537413,essv2528323,essv2546739,essv2538441,essv2540639,essv2564850,essv2539850,essv2532863,essv2555984,essv2533339,essv2554386,essv2525157,essv2563202 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07357,NA10847,NA11881,NA11894,NA11994,NA11995,NA12004,NA12043,NA12045,NA12249,NA12287,NA12717,NA12749,NA12751,NA12828,NA12873,NA12878,NA12891,NA12892,NA18547,NA18552,NA18558,NA18563,NA18576,NA18956 esv270234 12 28180223 28180571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546273,essv2526064,essv2536651,essv2545530,essv2577308,essv2570455,essv2548447,essv2521506,essv2535478,essv2551966,essv2564377,essv2559585,essv2519932,essv2561981,essv2537513,essv2528629,essv2539527,essv2522046,essv2532813,essv2527667,essv2548823,essv2547941 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA11881,NA11918,NA11920,NA12003,NA12043,NA12044,NA12045,NA12144,NA12249,NA12489,NA12751,NA12776,NA12815,NA12874,NA12878,NA12891,NA18563,NA18571,NA18576,NA18952 esv274423 12 28180240 28180584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580154,essv2580345,essv2580644,essv2579300,essv2579600 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 nsv507635 12 28233562 28239562 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617829 S 4 1 0 "" CHM esv268389 12 28308548 28308874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546363,essv2521151,essv2526159,essv2542458,essv2571058,essv2556577,essv2568251,essv2523105,essv2576591,essv2535213,essv2553948,essv2547166,essv2564540,essv2564174,essv2530803,essv2571885,essv2533036,essv2524805,essv2563137,essv2558092 M 157 20 0 Samples from several populations that are part of the HapMap project. CCDC91 NA07051,NA07357,NA10847,NA10851,NA11881,NA11894,NA11918,NA11919,NA11993,NA11994,NA11995,NA12004,NA12154,NA12249,NA12287,NA12717,NA12751,NA12828,NA12873,NA18973 esv1402084 12 28311949 28311949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217421 S 2 1 0 CCDC91 HuRef nsv653 12 28313188 28337655 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9015 S 9 0 1 CCDC91 NA12156 esv271912 12 28329846 28330186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576094,essv2540861,essv2522661,essv2543825,essv2556788,essv2523431,essv2531705,essv2521814,essv2525310,essv2544515,essv2520530,essv2577955,essv2565316,essv2576176,essv2561820,essv2556915,essv2569270,essv2558845,essv2536861,essv2544746,essv2523865,essv2552966,essv2538267,essv2542693,essv2540391,essv2524714,essv2565146,essv2534811,essv2539604,essv2549191,essv2519746,essv2559908,essv2566156,essv2531061,essv2532694,essv2568047,essv2541786,essv2570250,essv2563566,essv2553140,essv2559390,essv2534154,essv2578257,essv2572960,essv2555407,essv2533710,essv2567131,essv2529907,essv2574035,essv2527538,essv2557679,essv2522593,essv2531390,essv2573739,essv2543122,essv2577086,essv2525812,essv2574922,essv2549627,essv2536297,essv2537726,essv2547813 M 157 62 0 Samples from several populations that are part of the HapMap project. CCDC91 NA06986,NA07000,NA07347,NA11830,NA11831,NA11931,NA11992,NA11994,NA12004,NA12006,NA12144,NA12156,NA12414,NA12716,NA12761,NA12812,NA12814,NA12874,NA18501,NA18508,NA18516,NA18517,NA18526,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18603,NA18605,NA18638,NA18916,NA18940,NA18942,NA18943,NA18944,NA18947,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19138,NA19225 nsv527047 12 28361351 28508479 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703423 S 2026 0 1 CCDC91 nsv469179 12 28368114 28435731 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544141 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC91 HGDP00752 nsv523622 12 28370038 28409826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699419 S 2026 1 0 CCDC91 dgv1398n71 12 28389165 28491511 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898944,nsv898943 M 6533 0 2 CCDC91 IS40157,IS41955 dgv93n21 12 28394989 28496693 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528465,nsv522919 M 2026 0 2 CCDC91 esv268834 12 28401740 28402104 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512479,essv2500959,essv2499140,essv2502270 M 157 4 0 Samples from several populations that are part of the HapMap project. CCDC91 NA18489,NA18856,NA19114,NA19257 nsv469181 12 28409826 28520243 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544142 S 1557 0 1 CCDC91 NINDS_223 dgv1399n71 12 28412376 28481418 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898946,nsv898945,nsv898947 M 6533 0 3 CCDC91 IS30409,IS41991,SP52400 dgv190n27 12 28419575 28487596 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469184,nsv469182 M 1557 0 2 CCDC91 1780862576_A,HGDP01385 esv271570 12 28431503 28431823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504008 S 157 1 0 Samples from several populations that are part of the HapMap project. CCDC91 hapmap_pooled_sample_set nsv523992 12 28443864 28491511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699848 S 2026 0 1 CCDC91 nsv898948 12 28443864 28496693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594991 S 6533 0 1 CCDC91 IS40067 dgv191n27 12 28455148 28491511 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469186,nsv469185 M 1557 0 2 CCDC91 HGDP00752,HGDP01033 nsv898949 12 28458219 28549152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508416 S 6533 0 1 CCDC91 SP54579 nsv521777 12 28466092 28496693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694544 S 2026 0 1 CCDC91 nsv654 12 28467893 28498797 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6499 S 9 1 0 CCDC91 NA12156 nsv519119 12 28472369 28496693 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696595 S 2026 1 0 CCDC91 nsv469188 12 28474060 28520243 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544148 S 1557 0 1 CCDC91 NINDS_183 nsv516088 12 28481418 28491511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666121,nssv657218 M 2026 2 0 CCDC91 nsv826290 12 28506067 28561421 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441404 S 31 0 1 CCDC91 NA18969 nsv898950 12 28587114 28644667 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574336,nssv1595183,nssv1601098,nssv1588921,nssv1580642,nssv1586636,nssv1530028,nssv1590992,nssv1539598,nssv1597027 M 6533 10 0 CCDC91 IS33544,IS35408,IS37889,IS38266,IS38616,IS40149,IS40707,IS41968,MS10174,MS14384 nsv469189 12 28590431 28636597 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544149 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC91 HGDP00285 nsv442260 12 28656614 28658887 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv898951 12 28685330 28739231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570577 S 6533 0 1 "" IS32167 esv1362743 12 28694560 28694560 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201475 S 2 1 0 "" HuRef esv267504 12 28852061 28852262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499474,essv2503769,essv2507526,essv2499580 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA12044,NA12761,NA18638 esv1001763 12 28952959 28952959 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576147 S 3 1 0 "" HuRef nsv523734 12 28952979 28974685 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699550 S 2026 1 0 "" dgv487e1 12 29002049 29181116 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15805,esv401 M 271 0 0 "" NA19223 esv999221 12 29051846 29056252 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563637 S 3 0 1 "" HuRef esv21822 12 29052717 29056090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21179 S 451 0 8 "" NA06985,NA11931,NA11993,NA12776,NA18502,NA18907,NA18909,NA18916 esv996399 12 29052919 29056257 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586072 S 3 0 1 "" HuRef nsv519276 12 29101388 29117347 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696761 S 2026 1 0 "" esv1147913 12 29135184 29135244 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073468 S 2 0 1 "" HuRef nsv510289 12 29148124 29154124 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622185,nssv621381,nssv618362 M 4 0 3 "" CHM,NA10860,NA15510 esv32710 12 29162322 29164589 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97505 S 51 0 1 "" 21616 nsv512260 12 29170467 29173816 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624835 S 1 0 1 "" 1 esv1965060 12 29171313 29172022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913958 S 1 0 1 "" NA18507 esv8149 12 29171519 29171836 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30590 S 1 0 1 "" SJK nsv819469 12 29176728 29194753 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418672 S 2 1 0 "" AK1 esv33168 12 29192719 29194422 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99795 S 51 1 0 "" 22086 nsv437739 12 29220772 29230133 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467620 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 esv33218 12 29283606 29284137 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99444 S 51 1 0 FAR2 22335 esv273443 12 29397000 29397085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581340 S 7 1 0 Samples from several populations that are part of the HapMap project. ERGIC2 NA12878 esv29688 12 29449775 29457486 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12612 S 451 6 0 "" NA11993,NA12749,NA18505,NA18511,NA19114,NA19129 nsv820607 12 29449775 29457486 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420994 S 1 0 1 "" NA10851 nsv898952 12 29456804 29508817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532274,nssv1562593,nssv1530112 M 6533 0 3 OVCH1 MS10203,MS10737,MS25669 esv2458414 12 29464371 29465848 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256867 S 1 0 1 "" NA18507 esv2354786 12 29464490 29465210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952561 S 1 0 1 "" NA18507 esv3574 12 29464625 29465119 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26015 S 1 0 1 Single Asian sample YH "" YH esv997212 12 29464682 29465022 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571978 S 3 0 1 "" HuRef esv6212 12 29464686 29465016 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28653 S 1 0 1 "" SJK esv1371683 12 29464687 29465028 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825900 S 2 0 1 "" HuRef nsv525100 12 29467784 29477222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701159 S 2026 0 1 OVCH1 nsv527807 12 29489113 29489747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704301 S 2026 0 1 OVCH1 nsv469190 12 29503692 29702738 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544150 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OVCH1,TMTC1 HGDP01003 esv1790446 12 29687655 29687655 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994493 S 2 1 0 TMTC1 HuRef dgv278n67 12 29735624 29736713 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826291,nsv826293 M 31 0 18 TMTC1 AK12,AK14,AK16,AK2,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18942,NA18969,NA18973,NA18997,NA18999 esv1010064 12 29735624 29736713 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586926 S 3 1 0 TMTC1 HuRef nsv826292 12 29735624 29737927 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426043 S 31 0 1 TMTC1 AK4 esv6043 12 29735632 29737726 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28484 S 1 0 1 TMTC1 SJK nsv498785 12 29735648 29737706 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585646 S 9 0 1 TMTC1 esv26855 12 29735678 29737708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12524 S 451 0 9 TMTC1 NA11995,NA12749,NA15510,NA18523,NA18916,NA19099,NA19129,NA19147,NA19190 nsv514661 12 29735824 29736572 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628141 S 1414 0 1 TMTC1 nsv507636 12 29751837 29757837 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623104,nssv619068 M 4 2 0 TMTC1 NA10860,NA18994 esv268514 12 29770559 29770724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513198,essv2497853,essv2495935,essv2505627 M 157 4 0 Samples from several populations that are part of the HapMap project. TMTC1 NA12249,NA18945,NA18961,NA19005 nsv528476 12 29775820 29786802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705079 S 2026 0 1 TMTC1 esv269343 12 29778823 29779623 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508130,essv2511154 M 157 2 0 Samples from several populations that are part of the HapMap project. TMTC1 NA18579,NA18944 nsv898953 12 29796589 29880559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549074 S 6533 0 1 TMTC1 MS18028 nsv826294 12 29825871 29831639 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433113 S 31 1 0 TMTC1 NA18972 nsv469191 12 29830895 29990037 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544151 S 1557 0 1 "" NINDS_133 esv29548 12 29847697 29851501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15301 S 451 0 1 "" NA12239 nsv526146 12 29880559 30004090 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702401 S 2026 1 0 "" esv2036663 12 29886969 29887374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682140 S 1 0 1 "" NA18507 esv23019 12 29906014 29913608 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20785 S 451 0 1 "" NA11931 esv7272 12 29906129 29906182 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29713 S 1 1 0 "" SJK nsv524554 12 29906457 29906761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700508 S 2026 0 1 "" dgv488e1 12 29914434 30066499 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13146,esv218,essv13437,essv12230 M 271 0 0 "" NA19101,NA19102,NA19192 nsv656 12 29974896 30007343 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4018 S 9 1 0 "" NA12878 nsv826295 12 30021603 30099042 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430068 S 31 0 1 "" AK14 esv24027 12 30043361 30046857 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17716 S 451 0 1 "" NA18861 nsv510290 12 30106469 30112469 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622193 S 4 0 1 "" NA10860 nsv53516 12 30113251 30113251 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72094 M 24 "" esv2455744 12 30124082 30125504 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278395 S 1 0 1 "" NA18507 esv2226329 12 30124663 30125292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985523 S 1 0 1 "" NA18507 nsv8932 12 30128382 30134945 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19132,nssv20506,nssv21457,nssv23970 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA11830,NA18552,NA18942,NA18972 esv29786 12 30128500 30134835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18261 S 451 0 4 "" NA12414,NA12776,NA12828,NA18523 dgv279n67 12 30128521 30134749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826296,nsv826297 M 31 0 15 "" AK10,AK14,AK20,AK6,AK8,NA18526,NA18542,NA18547,NA18552,NA18592,NA18942,NA18947,NA18949,NA18969,NA18972 nsv438200 12 30128618 30132410 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470411 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18856 nsv442641 12 30128768 30135200 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514662 12 30128916 30134640 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628142 S 1414 0 1 "" esv33466 12 30131342 30137446 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94472 S 51 0 1 "" 21808 nsv528183 12 30132032 30136371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704735 S 2026 0 1 "" nsv821695 12 30178581 30341441 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421333 S 31 0 1 "" esv21474 12 30181474 30187900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19189 S 451 0 1 "" NA18907 nsv8933 12 30190617 30198053 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22972,nssv20895 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18537,NA19240 esv25873 12 30198424 30198901 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20070 S 451 0 1 "" NA11931 nsv516421 12 30200343 30302566 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688257,nssv668265,nssv655207,nssv674468 M 2026 4 0 "" esv24666 12 30222022 30229801 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18768 S 451 4 0 "" NA12004,NA12156,NA12749,NA18907 esv2500887 12 30261687 30263221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371909 S 1 0 1 "" NA18507 esv2341075 12 30262408 30263184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682310 S 1 0 1 "" NA18507 esv2818 12 30262524 30263213 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25259 S 1 0 1 Single Asian sample YH "" YH nsv8934 12 30284578 30296015 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25813,nssv23602 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 nsv832360 12 30284596 30446960 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449747 S 95 1 0 "" esv22141 12 30286634 30295903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18558 S 451 0 1 "" NA18907 nsv8936 12 30298960 30300328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24027 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 esv6901 12 30299586 30386227 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29342 S 1 0 0 "" SJK esv274495 12 30311896 30311986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582205,essv2582730,essv2583066,essv2584594 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 nsv517916 12 30346112 30376878 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695328 S 2026 1 0 "" nsv8937 12 30348429 30353765 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18671,nssv20688,nssv18935 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12872,NA18564 esv270931 12 30362312 30362631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557875,essv2565855,essv2576025,essv2540775,essv2571620,essv2521374,essv2556679,essv2548339,essv2521504,essv2525474,essv2520467,essv2547543,essv2577768,essv2559528,essv2576307,essv2564006,essv2530634,essv2540068,essv2557540,essv2532340,essv2550256,essv2536813,essv2561360,essv2562956,essv2523492,essv2534878,essv2539644,essv2522184,essv2566042,essv2541503,essv2566710,essv2550931,essv2543619,essv2528162,essv2572984,essv2529567,essv2575529,essv2538590,essv2526591,essv2524147,essv2568571,essv2545134,essv2551576,essv2537803,essv2548867,essv2533209,essv2554474,essv2547962,essv2524784 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11840,NA11894,NA11994,NA12045,NA12144,NA12156,NA12716,NA12717,NA12761,NA12776,NA12814,NA12828,NA12873,NA18489,NA18499,NA18505,NA18511,NA18517,NA18523,NA18532,NA18537,NA18561,NA18563,NA18571,NA18572,NA18592,NA18853,NA18858,NA18870,NA18907,NA18942,NA19093,NA19099,NA19108,NA19114,NA19129,NA19147,NA19172,NA19257 esv1312504 12 30362336 30362336 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245072 S 2 1 0 "" HuRef esv33180 12 30362884 30369496 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98733,essv100808,essv99956 M 51 3 0 "" 21606,21656,22086 nsv511500 12 30367455 30375951 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626118 S 1 0 1 "" 1 nsv522000 12 30367455 30376878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694769 S 2026 0 1 "" esv1004876 12 30369421 30372552 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565391 S 3 0 1 "" HuRef nsv512261 12 30369437 30372366 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624836 S 1 0 1 "" 1 esv1398361 12 30369554 30372260 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334322 S 2 0 1 "" HuRef esv25957 12 30369560 30371920 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17184 S 451 35 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821385 12 30369560 30371920 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420995 S 1 0 1 "" NA10851 esv1005971 12 30369597 30370203 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587204 S 3 0 1 "" HuRef nsv826299 12 30369597 30370203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431562,nssv1439192,nssv1433909,nssv1436943,nssv1437694,nssv1423680,nssv1424480,nssv1436107,nssv1426044,nssv1441409,nssv1422862,nssv1434640,nssv1440586,nssv1428829,nssv1433115,nssv1439908,nssv1427749,nssv1429329,nssv1429286,nssv1438375,nssv1425245,nssv1422084,nssv1435363,nssv1421609,nssv1432336,nssv1426969,nssv1430839,nssv1428565,nssv1430070 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv32559 12 30369858 30369965 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100838,essv98153,essv94405,essv98948,essv97201,essv100032,essv99636,essv98069,essv99326,essv100305,essv99384,essv98384,essv94163 M 51 0 13 "" 21656,21772,21808,21938,22075,22086,22217,22259,22275,22300,22335,22352,22394 esv274962 12 30376190 30377460 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585920 S 1250 0 1 "" esv27177 12 30387876 30399907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20299,esv20294,esv11198 M 451 0 3 "" NA15510,NA18523,NA18916 nsv507637 12 30392646 30398646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623105,nssv617830,nssv620497 M 4 3 0 "" CHM,NA15510,NA18994 esv33254 12 30395342 30400632 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101594,essv98861,essv97503,essv100714,essv95208,essv98272,essv94392,essv96910,essv95712,essv93054,essv98938,essv92931,essv93781,essv97094,essv98607,essv100012,essv93340,essv99656,essv98082,essv99141,essv100208,essv100360,essv99435,essv98408,essv96396,essv94159 M 51 26 0 "" 21603,21606,21616,21656,21721,21772,21808,21817,21841,21863,21938,21939,21972,22075,22085,22086,22170,22217,22259,22275,22286,22300,22335,22352,22371,22394 esv32665 12 30432761 30440459 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93770,essv100073 M 51 2 0 "" 21972,22086 nsv525673 12 30441788 30441854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701830 S 2026 0 1 "" esv269520 12 30485387 30485472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513813 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv469192 12 30569892 30598302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544152 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00530 nsv523846 12 30597617 30598457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699680 S 2026 0 1 "" nsv53388 12 30621209 30621209 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71966 M 24 "" nsv832361 12 30685297 30888508 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449748 S 95 0 1 CAPRIN2,IPO8,LOC100287314 nsv515645 12 30702093 30704095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693979,nssv664231,nssv659165,nssv669996,nssv660267 M 2026 0 5 IPO8 nsv820923 12 30809402 30810048 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420996 S 1 0 1 "" NA10851 esv3140 12 30809506 30810111 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25581 S 1 0 1 Single Asian sample YH "" YH esv8803 12 30809556 30810059 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31244 S 1 0 1 "" SJK esv1001294 12 30809607 30810048 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586788 S 3 0 1 "" HuRef nsv826300 12 30809607 30810048 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429298,nssv1425246,nssv1422865,nssv1424481,nssv1439193,nssv1428840,nssv1434642,nssv1433116,nssv1439909,nssv1438376,nssv1423681,nssv1435374,nssv1421621,nssv1428566,nssv1430071 M 31 14 1 "" AK10,AK14,AK2,NA18537,NA18547,NA18552,NA18570,NA18582,NA18592,NA18947,NA18951,NA18968,NA18972,NA18973,NA18999 nsv657 12 30811046 30844513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5413 S 9 1 0 LOC100287314 NA19129 esv34091 12 30818917 30953082 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC100287314 esv2422447 12 30846078 31341082 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161342 S 181 1 0 DDX11,FAM60A,LOC100287314,LOC100506660,TSPAN11 ND03704 nsv832362 12 30849053 31016250 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449749 S 95 0 1 TSPAN11 esv2614279 12 30913120 30914727 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203213 S 1 0 1 "" NA18507 esv2977 12 30914034 30914554 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25418 S 1 0 1 Single Asian sample YH "" YH dgv7e196 12 30963226 31237262 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422264,esv2422323,esv2422366,esv2422496,esv2422254 M 181 5 0 DDX11,LOC100506660,TSPAN11 ND03231,ND03406,ND03662,ND03790,ND04019 nsv658 12 30963667 30999916 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4019 S 9 0 1 TSPAN11 NA12878 esv260061 12 30977427 30977747 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399096,essv2400307,essv2401114,essv2399382,essv2395902,essv2395459,essv2397106,essv2398754 M 144 0 0 Samples from several populations that are part of the HapMap project. TSPAN11 NA10851,NA11881,NA11931,NA12287,NA18945,NA18948,NA18951,NA19005 nsv522849 12 30987048 31020397 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698502 S 2026 1 0 TSPAN11 esv25193 12 31004144 31006499 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11106 S 451 0 2 TSPAN11 NA18523,NA19129 nsv520694 12 31004731 31005838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697561 S 2026 0 1 TSPAN11 nsv524047 12 31007000 31039929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699911 S 2026 0 1 TSPAN11 esv273633 12 31011965 31012340 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579281,essv2579477 M 7 2 0 Samples from several populations that are part of the HapMap project. TSPAN11 NA19239,NA19240 esv271071 12 31011982 31012325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546603,essv2521051,essv2536366,essv2523026,essv2570856,essv2570636,essv2548205,essv2525317,essv2535069,essv2544518,essv2520519,essv2559669,essv2576386,essv2537355,essv2528497,essv2557347,essv2569492,essv2578831,essv2537087,essv2569708,essv2527127,essv2541353,essv2534842,essv2568978,essv2528131,essv2557735,essv2534189,essv2573516,essv2526776,essv2575412,essv2524003,essv2560821,essv2574588,essv2530204,essv2545775,essv2574164,essv2536103 M 157 37 0 Samples from several populations that are part of the HapMap project. TSPAN11 NA06986,NA11881,NA11894,NA11920,NA11931,NA11993,NA12044,NA12045,NA12156,NA12249,NA12414,NA12716,NA12776,NA12814,NA12878,NA12891,NA18499,NA18508,NA18510,NA18517,NA18520,NA18522,NA18545,NA18561,NA18861,NA18907,NA18953,NA18959,NA18964,NA19005,NA19099,NA19129,NA19137,NA19138,NA19141,NA19239,NA19240 dgv489e1 12 31016734 31382371 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10463,essv812,essv3241,essv8791,essv20143,essv2964,essv8438,essv10799,essv11833,essv4580,essv22099,essv4453,essv8761,essv11137,essv15251,essv12590,essv24287,essv23206,essv11952,essv12170,essv7211,essv8213,essv2867,essv13667,essv16089,essv12805,essv5474,essv8278,essv15422,essv17177,essv15071,essv12483,essv5050,essv6775,essv14368,essv18827,essv5373,essv23827,essv13055,essv24712,essv9326,esv620,essv23041,essv10630,essv19291,essv13442,essv4661,essv11044,essv11573,essv16545,essv9812,essv10873,essv21402,essv7323,essv21986,essv16813,essv15668,essv9718,essv17890,essv17446,essv21179,essv1263,essv13176,essv2084,essv18922,essv12620,essv16075,essv2637,essv16901,essv4397 M 271 0 0 DDX11,FAM60A,FLJ13224,LOC100506660,TSPAN11 NA07345,NA10838,NA10856,NA10857,NA11829,NA11830,NA11995,NA12003,NA12005,NA12043,NA12156,NA12740,NA12751,NA12763,NA12812,NA18500,NA18501,NA18502,NA18508,NA18515,NA18516,NA18521,NA18523,NA18524,NA18547,NA18552,NA18562,NA18563,NA18570,NA18573,NA18576,NA18594,NA18632,NA18852,NA18853,NA18855,NA18863,NA18871,NA18872,NA18912,NA18913,NA18949,NA18953,NA18967,NA18973,NA18974,NA18981,NA18995,NA19092,NA19094,NA19098,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19129,NA19143,NA19171,NA19173,NA19192,NA19194,NA19203,NA19205,NA19207,NA19210,NA19211 nsv428276 12 31016734 31382371 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452282,nssv452279,nssv452280,nssv452281 M 62 4 0 DDX11,FAM60A,FLJ13224,LOC100506660,TSPAN11 HGDP00450,HGDP00462,NA18916,NA19113 nsv525788 12 31018427 31020397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701967 S 2026 0 1 TSPAN11 nsv469193 12 31024332 31041450 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544153 S 1557 0 1 TSPAN11 NINDS_169 esv2751043 12 31039929 31390938 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985030,essv6985029 M 771 1 0 DDX11,FAM60A,FLJ13224,LOC100506660,TSPAN11 BEC_821 nsv524633 12 31049786 31053881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700598 S 2026 0 1 "" dgv61e55 12 31062295 31305740 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751045,esv2751044,esv2751047,esv2751048 M 771 4 0 DDX11,LOC100506660 BEC_377,BEC_510,BEC_592,SPC_85 esv2751046 12 31065500 31576000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983056,essv6983055 M 771 1 0 DDX11,DENND5B,FAM60A,FLJ13224,LOC100506660 BEC_538 dgv192n27 12 31092984 31298174 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469200,nsv469197,nsv469195,nsv469196,nsv469198,nsv469199 M 1557 6 0 DDX11,LOC100506660 1782681093_A,1782681287_A,HGDP00088,HGDP00105,HGDP00450,HGDP01386 nsv515974 12 31092984 31344017 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657394,nssv668347,nssv684394,nssv691155,nssv691258,nssv679724,nssv652044,nssv690641,nssv692645,nssv662135,nssv689700,nssv658573,nssv689624,nssv656470,nssv703433,nssv685064,nssv691512,nssv679822,nssv652709,nssv652364,nssv683943,nssv692113,nssv701390,nssv661626,nssv677691,nssv677862,nssv668807,nssv666611,nssv676277,nssv702194,nssv694818,nssv664670,nssv693776,nssv661532,nssv683481,nssv664306,nssv671743,nssv689330,nssv672491,nssv658208,nssv679536,nssv664846,nssv672438,nssv666815,nssv660241,nssv700664,nssv676465,nssv662619 M 2026 46 2 DDX11,FAM60A,LOC100506660 nsv659 12 31095013 31140322 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9016 S 9 0 1 DDX11,LOC100506660 NA12156 nsv8938 12 31097721 31100035 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23630 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC100506660 NA18502 dgv17n64 12 31101381 31298174 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818901,nsv818899 M 112 4 0 DDX11,LOC100506660 NA12740,NA12751,NA19119,NA19120 nsv832363 12 31101745 31271301 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449750 S 95 1 0 DDX11,LOC100506660 dgv8e196 12 31110214 31173418 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422386,esv2422453,esv2422218,esv2422436,esv2422449,esv2422267,esv2422282 M 181 7 0 DDX11,LOC100506660 ND01220,ND01695,ND03633,ND04069,ND04291,ND04498,ND05370 esv2422283 12 31114046 31151259 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161375 S 181 1 0 DDX11,LOC100506660 ND01613 esv22975 12 31116288 31245092 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20748 S 451 31 0 DDX11,LOC100506660 NA06985,NA07037,NA07045,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv62e55 12 31116977 31305740 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751062,esv2751060,esv2751064,esv35119,esv2751069,esv2751059,esv2751056,esv2751067,esv2751070,esv35017,esv34653,esv34728,esv34757,esv34800,esv34809,esv2751049,esv2751050,esv2751051,esv2751052,esv2751055,esv2751057,esv2751058,esv2751061,esv2751063,esv2751065,esv2751066,esv2751068 M 771 27 0 DDX11,LOC100506660 BEC_104,BEC_305,BEC_311,BEC_385,BEC_406,BEC_447,BEC_516,BEC_531,BEC_562,BEC_644,BEC_651,BEC_677,BEC_678,BEC_714,BEC_715,BEC_734,BEC_94,NA10838,NA12003,NA12156,NA12751,NA12763,NA18852,NA19210,SPC_10,SPC_124,SPC_18 dgv63e55 12 31116977 31404985 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35092,esv2751053,esv2751054,esv2751071,esv2751072,esv2751077 M 771 6 0 DDX11,FAM60A,FLJ13224,LOC100506660 BEC_444,BEC_613,BEC_676,BEC_693,BEC_694,NA19119 dgv490e1 12 31125435 31335485 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8513,essv18496,essv13219,essv14846,essv18514,essv9311,essv21916,essv15170,essv21503 M 271 0 0 DDX11,FAM60A NA10838,NA12003,NA12156,NA12763,NA18523,NA18852,NA19119,NA19120,NA19210 esv2422308 12 31126055 31166437 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161507 S 181 1 0 DDX11 ND01588 nsv436723 12 31132678 31132731 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466692 S 2 1 0 Samples from several populations that are part of the HapMap project. DDX11 NA18505 esv2444127 12 31136770 31219567 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216296 S 1 0 1 DDX11 NA18507 nsv898954 12 31138365 31226070 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505410 S 6533 1 0 DDX11 SP53458 dgv1400n71 12 31138365 31302088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898955,nsv898956,nsv898957 M 6533 7 0 DDX11 IS30297,IS38187,IS38610,IS39026,IS41128,MS18873,MS24360 nsv509462 12 31138680 31172441 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620964 S 4 1 0 DDX11 NA15510 dgv280n67 12 31151912 31243350 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826310,nsv826306,nsv826305,nsv826302,nsv826303,nsv826308,nsv826301,nsv826307 M 31 14 0 "" AK16,AK18,AK4,AK6,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18942,NA18949,NA18973,NA18999 nsv470281 12 31152225 31300846 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546917,nssv546924,nssv546926,nssv546916,nssv546927,nssv546923,nssv546922,nssv546913,nssv546918,nssv546914,nssv546919,nssv546912,nssv546925,nssv546915 M 443 14 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00060,HGDP00450,HGDP00698,HGDP00915,HGDP00922,HGDP00923,HGDP00925,HGDP00951,HGDP01253,HGDP01274,HGDP01280,HGDP01300,HGDP01362,HGDP01386 dgv193n27 12 31152226 31306258 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469252,nsv469233,nsv469232,nsv469213,nsv469246,nsv469209,nsv469206,nsv469236,nsv469203,nsv469242,nsv469201,nsv469240,nsv469207,nsv469225,nsv469210,nsv469218,nsv469223,nsv469237,nsv469229,nsv469234,nsv469215,nsv469212,nsv469214,nsv469202,nsv469251,nsv469244,nsv469245,nsv469248,nsv469231,nsv469250,nsv469241,nsv469221,nsv469208,nsv469220,nsv469211,nsv469226,nsv469224,nsv469230,nsv469222,nsv469219,nsv469243,nsv469247,nsv469228,nsv469239,nsv469204,nsv469217,nsv469235 M 1557 47 0 "" 1780854159_A,1780854231_A,1780854279_A,1780854296_A,1780854362_A,1780854446_A,1780854481_A,1780862127_A,1780862312_A,1780862528_A,1780862551_A,1780862574_A,1780862575_A,1780862576_A,1782681076_A,1782681109_A,1782681115_A,1782681164_A,1782681277_A,1782681296_A,1782681316_A,1798860552_A,HGDP00009,HGDP00060,HGDP00224,HGDP00230,HGDP00514,HGDP00533,HGDP00563,HGDP00673,HGDP00698,HGDP00915,HGDP00925,HGDP00951,HGDP01155,HGDP01253,HGDP01274,HGDP01280,HGDP01300,HGDP01362,HGDP01377,NINDS_159,NINDS_178,NINDS_245,NINDS_256,NINDS_29,NINDS_76 nsv8939 12 31155092 31299364 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18701,nssv21017,nssv18490,nssv21119,nssv25856,nssv19162,nssv25835,nssv21898,nssv20695,nssv20674,nssv23880,nssv19009,nssv19944,nssv21928,nssv20540,nssv20366,nssv21487,nssv20536,nssv20925,nssv23907,nssv23658,nssv24054,nssv20955,nssv21459,nssv21149,nssv23001,nssv21369 M 31 21 1 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12740,NA12802,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173,NA19221,NA19240 nsv820252 12 31159180 31244197 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418763 S 2 1 0 "" AK1 esv33836 12 31160462 31242543 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93281 S 51 1 0 "" 22170 nsv826304 12 31162750 31164399 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425247 S 31 1 0 "" AK2 esv2146438 12 31163252 31164838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913770 S 1 0 1 "" NA18507 esv1983825 12 31163564 31164234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568144 S 1 0 1 "" NA18507 esv6334 12 31163733 31164112 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28775 S 1 0 1 "" SJK esv1464531 12 31166632 31166712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916628 S 2 0 1 "" HuRef esv2052834 12 31166821 31167341 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955741 S 1 0 1 "" NA18507 esv3598 12 31166948 31167271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26039 S 1 0 1 Single Asian sample YH "" YH esv1218108 12 31167006 31167164 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930147 S 2 0 1 "" HuRef dgv491e1 12 31169298 31247316 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21601,essv24458 M 271 0 0 "" NA12155,NA12865 dgv492e1 12 31169298 31303021 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24163,essv23697,essv9507 M 271 0 0 "" NA12740,NA12751,NA18521 dgv64e55 12 31169298 31305740 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751074,esv2751083,esv2751080,esv2751081,esv34408,esv34274,esv34711,esv2751073,esv2751075,esv2751076,esv2751078,esv2751079,esv2751082,esv2751084,esv2751085 M 771 15 0 "" BEC_236,BEC_355,BEC_379,BEC_402,BEC_501,BEC_597,BEC_611,BEC_629,BEC_639,BEC_687,NA18521,NA18523,NA19120,SPC_168,SPC_99 nsv660 12 31169503 31190912 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1073 S 9 1 0 "" NA19240 nsv818902 12 31177747 31202342 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418197,nssv1418198 M 112 2 0 "" NA19143,NA19145 dgv1401n71 12 31180151 31302088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898961,nsv898958,nsv898959 M 6533 4 0 "" IS30255,IS35788,IS40055,SP54448 nsv898960 12 31191287 31248369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515200 S 6533 1 0 "" SP56136 dgv493e1 12 31202207 31382371 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14616,essv11225 M 271 0 0 FAM60A,FLJ13224 NA19093,NA19204 nsv469253 12 31202342 31298174 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544213 S 1557 1 0 "" 1780862195_A nsv508668 12 31204482 31231408 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618866 S 4 0 1 "" NA10860 esv269443 12 31244995 31245080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514544,essv2516625,essv2519188,essv2516979,essv2514719,essv2516468,essv2516001,essv2517848,essv2517262,essv2518240 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11931,NA12234,NA12814,NA12873,NA12878,NA18970,NA19240 esv273762 12 31244995 31245080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581454,essv2581155 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv818903 12 31248369 31276546 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417921 S 112 1 0 "" NA18852 nsv469309 12 31248369 31300846 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544220 S 1557 1 0 "" NINDS_156 dgv1402n71 12 31257563 31302088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898964,nsv898962,nsv898963 M 6533 3 0 "" IS31758,IS35140,IS40345 nsv442642 12 31264657 31293961 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514663 12 31277100 31277414 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627117 S 1414 0 0 "" nsv514664 12 31289862 31293318 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628143 S 1414 1 0 "" nsv524737 12 31291168 31355930 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700728 S 2026 1 0 FAM60A esv269778 12 31297884 31298211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558146,essv2542539,essv2556794,essv2545675,essv2532004,essv2577358,essv2570592,essv2576820,essv2550615,essv2535031,essv2554112,essv2520275,essv2547598,essv2553861,essv2559627,essv2563948,essv2537712,essv2546949,essv2540055,essv2557374,essv2556828,essv2552464,essv2551892,essv2532137,essv2562653,essv2569222,essv2578572,essv2550161,essv2558810,essv2537150,essv2538900,essv2569740,essv2561470,essv2562919,essv2523850,essv2541173,essv2542794,essv2524597,essv2564895,essv2534655,essv2561153,essv2519892,essv2559978,essv2565916,essv2567763,essv2528987,essv2567381,essv2541839,essv2569938,essv2563656,essv2535528,essv2572284,essv2541930,essv2568926,essv2543408,essv2562231,essv2578327,essv2573084,essv2555278,essv2567146,essv2529914,essv2574056,essv2527410,essv2534342,essv2522467,essv2531423,essv2577172,essv2525708,essv2575677,essv2575243,essv2538672,essv2526577,essv2523948,essv2568682,essv2560229,essv2548128,essv2571211,essv2546018,essv2574431,essv2548802,essv2532934,essv2554781 M 157 82 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA10851,NA11919,NA11994,NA12003,NA12006,NA12043,NA12044,NA12154,NA12155,NA12249,NA12287,NA12716,NA12717,NA12763,NA12776,NA12828,NA12878,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18523,NA18532,NA18537,NA18545,NA18550,NA18555,NA18558,NA18561,NA18562,NA18566,NA18570,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18856,NA18861,NA18870,NA18909,NA18940,NA18942,NA18943,NA18947,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18970,NA18980,NA19099,NA19102,NA19108,NA19114,NA19129,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240 esv272260 12 31297885 31298212 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581642,essv2582960,essv2584365,essv2584674,essv2583597 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv832364 12 31359257 31539411 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449752,nssv1449753 M 95 0 2 DENND5B,FAM60A,FLJ13224 nsv661 12 31361233 31394647 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5414 S 9 1 0 FAM60A,FLJ13224 NA19129 esv26153 12 31398179 31400125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19017 S 451 0 1 "" NA18916 esv1770217 12 31425064 31425781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072734 S 2 0 1 "" HuRef nsv898965 12 31523086 31662956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553427 S 6533 0 1 DENND5B MS20030 nsv832365 12 31534078 31699799 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449754 S 95 0 1 DENND5B,METTL20 nsv52934 12 31613199 31622374 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71512 M 24 DENND5B esv28191 12 31634469 31635476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18875 S 451 0 1 DENND5B NA07045 nsv510291 12 31647364 31653364 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618363 S 4 0 1 "" CHM esv2474625 12 31664478 31665887 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277299 S 1 0 1 "" NA18507 esv2338790 12 31664807 31665510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629175 S 1 0 1 "" NA18507 nsv662 12 31686533 31720489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1074 S 9 1 0 AMN1,METTL20 NA19240 esv2495218 12 31693711 31694622 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226848 S 1 1 0 METTL20 NA18507 esv1351884 12 31694235 31694235 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630748 S 2 1 0 METTL20 HuRef nsv898966 12 31701393 31836252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527977 S 6533 1 0 AMN1,H3F3C,METTL20 SP81092 nsv522379 12 31707890 31708430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695159 S 2026 0 1 METTL20 nsv898967 12 31749298 31790742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501074 S 6533 0 1 AMN1 SP50936 esv2422415 12 31754627 31821989 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161329 S 181 1 0 AMN1 ND01693 nsv8940 12 31791171 31878630 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20286,nssv22925,nssv19192,nssv18965,nssv19592 M 31 5 0 Samples from several populations that are part of the HapMap project. H3F3C NA07029,NA10847,NA10863,NA18504,NA18942 nsv442261 12 31791817 31801173 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421936 12 31791817 31801175 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5031905,essv5002641,essv5134510,essv5153076,essv5024947,essv5033092,essv5139680,essv5057514,essv5097324,essv5038515,essv5065306,essv5159070,essv5053907,essv5060320,essv5112805,essv5006064,essv5015031,essv5054930,essv5119251,essv5082413,essv5060524,essv5017933,essv5105445,essv5092041,essv5008638,essv5082732,essv5040540,essv5078438,essv5144037,essv5027047,essv5094429,essv5012538,essv5071046,essv5079040,essv5074507,essv5052119,essv5091285,essv5058929,essv5040419,essv5040375,essv5037108,essv5152737,essv5093179,essv5126147,essv5026455,essv5050014,essv5029440,essv5044028,essv5151993,essv5012469,essv5067538,essv5113496,essv5009051,essv5013123,essv5098037,essv5068724,essv5065419,essv5091574,essv5094636,essv5014564,essv5045543,essv5150406,essv5082050,essv5024889,essv5135048,essv5060199,essv5036067,essv5048028,essv5085220,essv5002032,essv5067227,essv5139922,essv5065629,essv5009636,essv5075678,essv5056850,essv5123985,essv5019308,essv5109054,essv5053805,essv5109568,essv5109191,essv5157877,essv5124681,essv5009211,essv5038472,essv5036152,essv5086654,essv5033733,essv5002194,essv5080206,essv5138956,essv5029773,essv5035386,essv5050364,essv5111140,essv5042024,essv5092659,essv5095592,essv5071039,essv5010695,essv5108725,essv5091508,essv5149298,essv5025974,essv5035396,essv5018695,essv5052019,essv5019894,essv5124783,essv5048019,essv5070852,essv5087499,essv5075045,essv5110652,essv5075934,essv5007239,essv5067639 M 1184 0 118 "" NA07345,NA10853,NA10864,NA11843,NA11893,NA12057,NA12248,NA12376,NA12489,NA18108,NA18487,NA18516,NA18519,NA18852,NA18854,NA18873,NA18934,NA19028,NA19031,NA19035,NA19072,NA19094,NA19096,NA19098,NA19099,NA19113,NA19114,NA19115,NA19128,NA19131,NA19132,NA19175,NA19178,NA19179,NA19180,NA19201,NA19204,NA19206,NA19224,NA19226,NA19239,NA19247,NA19249,NA19257,NA19258,NA19308,NA19311,NA19315,NA19318,NA19321,NA19350,NA19352,NA19371,NA19373,NA19379,NA19393,NA19429,NA19445,NA19448,NA19467,NA19471,NA19473,NA19474,NA19625,NA19663,NA19678,NA19703,NA19704,NA19705,NA19720,NA19721,NA19726,NA19776,NA19778,NA19779,NA19781,NA19834,NA19904,NA19914,NA19917,NA19918,NA19985,NA20279,NA20282,NA20284,NA20291,NA20340,NA20364,NA20539,NA20582,NA20760,NA20761,NA20773,NA20850,NA20870,NA20874,NA20879,NA20882,NA20900,NA20902,NA21144,NA21318,NA21320,NA21336,NA21356,NA21360,NA21361,NA21365,NA21366,NA21408,NA21420,NA21451,NA21486,NA21519,NA21529,NA21683,NA21689,NA21723 nsv818904 12 31795038 31803855 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418019,nssv1415692 M 112 0 2 "" NA07345,NA12248 nsv515490 12 31795038 31810455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653299,nssv656003,nssv671086,nssv700665,nssv659773,nssv684331,nssv693980,nssv655278,nssv675210,nssv684859 M 2026 0 10 "" esv28314 12 31795648 31803075 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11695,esv18187 M 451 32 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19147,NA19190,NA19225,NA19240 nsv820402 12 31797904 31804002 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420997 S 1 0 1 "" NA10851 nsv826311 12 31797904 31804002 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421646 S 31 0 1 "" NA18547 nsv826312 12 31800014 31801189 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423684,nssv1439911,nssv1434644 M 31 3 0 "" NA18537,NA18570,NA18999 nsv522362 12 31821038 31872560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694159 S 2026 0 1 H3F3C nsv663 12 31833256 31877875 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1990 S 9 0 1 H3F3C NA18555 nsv523907 12 31835742 31839532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699750 S 2026 0 1 H3F3C nsv519112 12 31836252 31848648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696587 S 2026 0 1 H3F3C nsv512262 12 31843051 31845765 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624837 S 1 0 1 "" 1 esv21837 12 31843758 31845690 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16481 S 451 7 0 "" NA07037,NA12006,NA12239,NA12414,NA12749,NA18511,NA19240 nsv821222 12 31843758 31845690 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420998 S 1 0 1 "" NA10851 nsv511015 12 31852716 31962322 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618614,nssv624335,nssv622395 M 4 0 0 "" CHM,NA10860,NA18994 esv2750757 12 31872616 31876210 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99395 S 51 0 1 "" 22335 esv32719 12 31877881 31878466 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100676,essv95594,essv93296 M 51 0 3 "" 21656,21841,22170 dgv494e1 12 31882773 31963864 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1103,essv24613 M 271 0 0 "" NA12875 dgv65e55 12 31882773 31972700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35043,esv2751087,esv34737,esv34926,esv2751086,esv2751088,esv2751089 M 771 7 0 "" BEC_387,BEC_826,NA12740,NA12753,NA12763,SPC_150,SPC_159 esv33521 12 31885599 31887076 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94237 S 51 0 1 "" 22394 nsv470282 12 31889248 31954269 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546929,nssv546928 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00880,HGDP01299 nsv8941 12 31890959 31954866 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21489 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12740 dgv18n64 12 31892782 31954269 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818905,nsv818906 M 112 3 0 "" NA12740,NA12751,NA12875 dgv194n27 12 31892782 31960144 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469330,nsv469329,nsv469328,nsv469323,nsv469320,nsv469324,nsv469318,nsv469325,nsv469321,nsv469322,nsv469331,nsv469326 M 1557 12 0 "" 1780854418_A,1780862459_A,1780862573_A,1780862585_A,1788485590_A,HGDP00274,HGDP01299,NINDS_146,NINDS_198,NINDS_259,NINDS_37,NINDS_81 nsv516507 12 31892782 31960144 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652994,nssv688358,nssv686613,nssv658376,nssv696574,nssv683182,nssv661381,nssv674273,nssv672946,nssv669769,nssv693399,nssv654238,nssv654800,nssv654494,nssv677982,nssv659816,nssv653020,nssv661830,nssv662245,nssv662711,nssv680108,nssv680994,nssv683335,nssv672155,nssv678166,nssv688738,nssv681888,nssv661365,nssv656489,nssv671962,nssv682222,nssv681684,nssv690210,nssv683989,nssv683161,nssv661401 M 2026 23 13 "" nsv898968 12 31892782 31960144 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588052,nssv1535290,nssv1547187,nssv1584589 M 6533 4 0 "" IS37065,IS38148,MS12130,MS17224 nsv469332 12 31895437 31985368 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544235 S 1557 1 0 "" 1780862176_A dgv66e55 12 31904362 31954300 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34935,esv34771,esv2751090 M 771 3 0 "" BEC_24,NA10855,NA11831 dgv495e1 12 31904362 31963864 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20833,essv22793,essv18516,essv24178,essv23706,essv24546 M 271 0 0 "" NA10855,NA11831,NA12740,NA12751,NA12753,NA12763 dgv67e55 12 31904362 31968090 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751093,esv2751091,esv2751092,esv2751094,esv2751095 M 771 5 0 "" BEC_510,BEC_575,BEC_705,SPC_14,SPC_86 esv23385 12 31942677 31949429 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15793 S 451 0 1 "" NA07045 nsv818907 12 31943689 31945102 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416091,nssv1416092,nssv1418100,nssv1418115,nssv1418104 M 112 0 5 "" NA06991,NA06993,NA11881,NA12801,NA12813 nsv528760 12 31943689 31965665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705422 S 2026 0 1 "" nsv442262 12 31944499 31949242 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv507638 12 31946340 31952340 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620499 S 4 1 0 "" NA15510 nsv664 12 31959768 31987859 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2880 S 9 1 0 "" NA18555 nsv52722 12 31962323 31962323 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71300 M 24 "" esv267968 12 31967662 31967992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575797,essv2541050,essv2546328,essv2525961,essv2536442,essv2522698,essv2544213,essv2570977,essv2556617,essv2568346,essv2545278,essv2523336,essv2577384,essv2570629,essv2548467,essv2576678,essv2550640,essv2525545,essv2550505,essv2535243,essv2554292,essv2544348,essv2520670,essv2547368,essv2558244,essv2564626,essv2578091,essv2553535,essv2559696,essv2576202,essv2561855,essv2537463,essv2528182,essv2551804,essv2569450,essv2578786,essv2558733,essv2537157,essv2539139,essv2569760,essv2544983,essv2523801,essv2552908,essv2541358,essv2538364,essv2524666,essv2564991,essv2534732,essv2561196,essv2549365,essv2519569,essv2559855,essv2522051,essv2566070,essv2532652,essv2567994,essv2528697,essv2541702,essv2570231,essv2563879,essv2553346,essv2535767,essv2572487,essv2559090,essv2569105,essv2543636,essv2562371,essv2578430,essv2573201,essv2555323,essv2566667,essv2529993,essv2531389,essv2576950,essv2572065,essv2525641,essv2526887,essv2575761,essv2538737,essv2526324,essv2560520,essv2524033,essv2530211,essv2572814,essv2549765,essv2571512,essv2545870,essv2574461,essv2536199,essv2537938,essv2548784,essv2533060,essv2554801,essv2547852,essv2525162,essv2558131 M 157 96 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11881,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12874,NA12878,NA12891,NA18504,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18526,NA18537,NA18542,NA18545,NA18547,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18870,NA18909,NA18940,NA18942,NA18943,NA18948,NA18949,NA18961,NA18970,NA18973,NA18980,NA19005,NA19099,NA19108,NA19114,NA19116,NA19129,NA19141,NA19143,NA19225,NA19238,NA19239,NA19240 esv274171 12 31967662 31967992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581957,essv2582362,essv2584310,essv2584732,essv2583436 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 nsv515512 12 32040182 32041510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653404,nssv691471,nssv691368,nssv663208,nssv690935,nssv674712,nssv666642,nssv674469,nssv688043,nssv671117 M 2026 0 10 "" nsv521398 12 32040182 32047983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698009 S 2026 0 1 "" nsv521441 12 32085642 32089144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698051 S 2026 0 1 "" nsv898969 12 32116215 32266944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538921 S 6533 1 0 BICD1 MS13813 esv2751096 12 32171607 32594051 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981053,essv6981054,essv6988349,essv6985461 M 771 1 0 BICD1,FGD4 BEC_345 esv259530 12 32204037 32204301 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394132 S 6 0 0 Samples from several populations that are part of the HapMap project. BICD1 NA12878 esv1789119 12 32204205 32204205 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874480 S 2 1 0 BICD1 HuRef nsv53118 12 32204206 32204206 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71696 M 24 BICD1 nsv511506 12 32216277 32228454 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626125 S 1 0 1 BICD1 1 nsv437142 12 32218425 32246233 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467023 S 60 0 1 Samples from several populations that are part of the HapMap project. BICD1 NA10863 nsv832366 12 32219826 32402627 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449755,nssv1449756 M 95 2 0 BICD1 nsv8942 12 32221610 32228425 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20316 S 31 0 1 Samples from several populations that are part of the HapMap project. BICD1 NA10863 nsv512263 12 32221842 32227481 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624838 S 1 0 1 BICD1 1 esv28364 12 32222151 32226899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14182 S 451 0 1 BICD1 NA11995 nsv665 12 32247541 32281987 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2881 S 9 1 0 BICD1 NA18555 esv271245 12 32249894 32250231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514704,essv2516657,essv2517442,essv2518705,essv2514766,essv2515404,essv2516386,essv2513612 M 157 8 0 Samples from several populations that are part of the HapMap project. BICD1 NA07347,NA11840,NA11881,NA11918,NA12045,NA12234,NA12249,NA12814 nsv518108 12 32275691 32277681 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695522 S 2026 1 0 BICD1 nsv526311 12 32275691 32277681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702595 S 2026 0 1 BICD1 esv1526675 12 32296336 32296336 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350155 S 2 1 0 BICD1 HuRef esv1653085 12 32298089 32298089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157909 S 2 1 0 BICD1 HuRef nsv528838 12 32345199 32345552 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705515 S 2026 0 1 BICD1 nsv438201 12 32414722 32422479 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470413,nssv470412 M 269 0 2 Samples from several populations that are part of the HapMap project. BICD1 NA19137,NA19139 nsv526183 12 32422479 32427082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702445 S 2026 0 1 "" nsv469346 12 32422487 32478732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544237 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00017 nsv469347 12 32447113 32493346 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544238 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01200 nsv898970 12 32513364 32571503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591146 S 6533 0 1 FGD4 IS38645 esv267799 12 32645672 32645757 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513832 S 157 1 0 Samples from several populations that are part of the HapMap project. FGD4 NA19143 nsv527786 12 32652825 32663179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704277 S 2026 1 0 FGD4 nsv507639 12 32763583 32769583 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619069,nssv623106 M 4 2 0 DNM1L NA10860,NA18994 esv2485280 12 32854769 32856831 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243182 S 1 0 1 PKP2 NA18507 esv4479 12 32854834 32855286 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26920 S 1 0 1 Single Asian sample YH PKP2 YH esv8190 12 32854867 32855209 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30631 S 1 0 1 PKP2 SJK esv1043456 12 32854882 32855197 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751927 S 2 0 1 PKP2 HuRef nsv516937 12 32871284 32875597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675595,nssv658411,nssv693328,nssv655060,nssv674333,nssv672522 M 2026 0 6 PKP2 nsv526287 12 32871284 32879242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702567 S 2026 0 1 PKP2 nsv832367 12 32954911 33190234 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449757 S 95 1 0 "" nsv826313 12 33011422 33011933 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430072 S 31 0 1 "" AK14 esv2219187 12 33102022 33102443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837886 S 1 0 1 "" NA18507 nsv507640 12 33128644 33134644 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620500 S 4 1 0 "" NA15510 esv1942655 12 33157392 33157803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883220 S 1 0 1 "" NA18507 nsv667 12 33168383 33202105 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4020 S 9 1 0 "" NA12878 nsv668 12 33172942 33206150 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9834 S 9 0 1 "" NA18507 esv2654108 12 33184975 33200415 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366580 S 1 0 1 "" NA18507 nsv8943 12 33185151 33198835 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19974,nssv21179 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18975,NA19173 nsv511494 12 33185174 33199289 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626112 S 1 1 0 "" 1 nsv437740 12 33185304 33203464 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467621 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv498786 12 33187820 33198640 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585647 S 9 0 1 "" esv21545 12 33190578 33198735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16755 S 451 0 9 "" NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12287,NA12776,NA19190 esv2422106 12 33191058 33198641 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038332,essv5141576,essv5073242,essv5020161,essv5061944,essv5093173,essv5154714,essv5125639,essv5011025,essv5134643,essv5084885,essv5095896,essv5135825,essv5120409,essv5072210,essv5107154,essv5031376,essv5028698,essv5121655,essv5070302,essv5091031,essv5094562,essv5104988,essv5115275,essv5087345,essv5038912,essv5070218,essv5160882,essv5048178,essv5070389,essv5003578,essv5094293,essv5024271,essv5005704,essv5145033,essv5066391,essv5159870,essv5015045,essv5142322,essv5080035,essv5083531,essv5142577,essv5068645,essv5009007,essv5022163,essv5111260,essv5036311,essv5075860,essv5079063,essv5034947,essv5121610,essv5119248,essv5103758,essv5075913,essv5130871,essv5051325,essv5008479,essv5141461,essv5079939,essv5148302,essv5080410,essv5143466,essv5023699,essv5131388,essv5068948,essv5110622,essv5059672,essv5059244,essv5150505,essv5101781,essv5146413,essv5081523,essv5042154,essv5130996,essv5066306,essv5115303,essv5016224,essv5047553,essv5153896,essv5120520,essv5022311,essv5007830,essv5121376,essv5122122,essv5138299,essv5095777,essv5104389,essv5060695,essv5126065,essv5007167,essv5111175,essv5042084,essv5052325,essv5138305,essv5159322,essv5135916,essv5105434,essv5037865,essv5096929,essv5147445,essv5129688,essv5046416,essv5087664,essv5106530,essv5141943,essv5030004,essv5002001,essv5063697,essv5119655,essv5036328,essv5128785,essv5142733,essv5092220,essv5083863,essv5104754,essv5139316,essv5011024,essv5068024,essv5124634,essv5075144,essv5084066,essv5049104,essv5131326,essv5045201,essv5073838,essv5105873,essv5080581,essv5140785,essv5111882,essv5147610,essv5007618,essv5110486,essv5110492,essv5002602,essv5076617,essv5097754,essv5152289,essv5026749,essv5034624,essv5005187,essv5118058,essv5081232,essv5089230,essv5033370,essv5107638,essv5021620,essv5073884,essv5144948,essv5138596,essv5029912,essv5075997,essv5128608,essv5100628,essv5056520,essv5050286,essv5054977,essv5002513,essv5087329,essv5006236,essv5066284,essv5076135,essv5092061,essv5141826,essv5053599,essv5008328,essv5066821,essv5128845,essv5135822,essv5121981,essv5142031,essv5151439,essv5008938,essv5089439,essv5081391,essv5136906,essv5147069,essv5063388,essv5145782,essv5099860,essv5027755,essv5029709,essv5061600,essv5119256,essv5038438,essv5069283,essv5022733,essv5103858,essv5084639,essv5120226,essv5065882,essv5034026,essv5118722,essv5083083,essv5071710,essv5052927,essv5138907,essv5073011,essv5023346,essv5020360,essv5061383,essv5111967,essv5065454,essv5111495,essv5124891,essv5043848,essv5087356,essv5151859,essv5144722,essv5101032,essv5080779,essv5017072,essv5149136,essv5004540,essv5098756,essv5036599,essv5005226,essv5140153,essv5018110,essv5119707,essv5126345,essv5008022,essv5097548,essv5097143,essv5151158,essv5130366,essv5025548,essv5134355,essv5045958,essv5011346,essv5116836,essv5115171,essv5030207,essv5122206,essv5111174,essv5084943,essv5142409,essv5036195,essv5062435,essv5115374,essv5117335,essv5123679,essv5152266,essv5055772,essv5090067,essv5043031,essv5061226,essv5054336,essv5055551,essv5080415,essv5145918,essv5139363,essv5031624,essv5039382,essv5141998,essv5153937,essv5049417,essv5128095,essv5057292,essv5034554,essv5009986,essv5044371,essv5038960,essv5032496,essv5019100,essv5143091,essv5046953,essv5094314,essv5154627,essv5108684,essv5096949,essv5024269,essv5003121,essv5107793,essv5072073,essv5104535,essv5043039,essv5048406,essv5058132,essv5148618,essv5042092,essv5004270,essv5151261,essv5156394,essv5115320,essv5037643,essv5142265,essv5076014,essv5026395,essv5161205,essv5064527,essv5144257,essv5109412,essv5114612,essv5011495,essv5136180 M 1184 0 295 "" NA06986,NA06989,NA06993,NA06995,NA07014,NA07022,NA07037,NA07045,NA07051,NA07345,NA07346,NA07347,NA07349,NA10846,NA10850,NA10861,NA11831,NA11832,NA11893,NA11894,NA11920,NA11931,NA11995,NA12056,NA12145,NA12154,NA12248,NA12249,NA12273,NA12283,NA12287,NA12335,NA12336,NA12341,NA12342,NA12344,NA12347,NA12707,NA12739,NA12748,NA12751,NA12752,NA12760,NA12766,NA12775,NA12776,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12842,NA12865,NA12873,NA12874,NA12875,NA12877,NA12889,NA17967,NA17968,NA17969,NA17972,NA17986,NA17993,NA18105,NA18106,NA18107,NA18108,NA18128,NA18129,NA18146,NA18153,NA18154,NA18155,NA18160,NA18507,NA18510,NA18524,NA18546,NA18562,NA18576,NA18577,NA18610,NA18616,NA18617,NA18626,NA18627,NA18630,NA18634,NA18635,NA18642,NA18643,NA18670,NA18682,NA18689,NA18757,NA18855,NA18874,NA18910,NA18911,NA18934,NA18943,NA18944,NA18951,NA18952,NA18955,NA18957,NA18960,NA18963,NA18967,NA18968,NA18969,NA18974,NA18975,NA18977,NA18979,NA18987,NA18990,NA18993,NA19001,NA19009,NA19054,NA19056,NA19059,NA19062,NA19065,NA19077,NA19080,NA19083,NA19086,NA19116,NA19131,NA19171,NA19173,NA19189,NA19190,NA19191,NA19197,NA19199,NA19236,NA19309,NA19316,NA19327,NA19375,NA19383,NA19466,NA19473,NA19651,NA19657,NA19659,NA19669,NA19670,NA19671,NA19678,NA19701,NA19702,NA19716,NA19718,NA19720,NA19722,NA19723,NA19724,NA19746,NA19760,NA19770,NA19772,NA19773,NA19774,NA19775,NA19788,NA19790,NA19835,NA19901,NA19909,NA19916,NA19918,NA19919,NA20281,NA20284,NA20287,NA20288,NA20289,NA20297,NA20341,NA20342,NA20348,NA20350,NA20363,NA20502,NA20504,NA20509,NA20510,NA20512,NA20515,NA20517,NA20520,NA20521,NA20522,NA20525,NA20528,NA20530,NA20534,NA20539,NA20542,NA20753,NA20757,NA20758,NA20760,NA20761,NA20766,NA20768,NA20770,NA20772,NA20773,NA20785,NA20786,NA20790,NA20795,NA20800,NA20801,NA20803,NA20805,NA20806,NA20809,NA20810,NA20811,NA20816,NA20818,NA20826,NA20828,NA20847,NA20851,NA20853,NA20858,NA20873,NA20874,NA20875,NA20876,NA20879,NA20887,NA20890,NA20894,NA20896,NA20903,NA20908,NA20911,NA21088,NA21089,NA21092,NA21100,NA21102,NA21103,NA21106,NA21112,NA21116,NA21117,NA21118,NA21119,NA21123,NA21137,NA21141,NA21143,NA21301,NA21302,NA21318,NA21344,NA21353,NA21382,NA21383,NA21390,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21420,NA21436,NA21448,NA21454,NA21473,NA21519,NA21524,NA21525,NA21576,NA21578,NA21620,NA21631,NA21632,NA21647,NA21689,NA21723,NA21740,NA21826 dgv281n67 12 33192157 33198603 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826314,nsv826315 M 31 0 5 "" AK4,AK8,NA18951,NA18968,NA18969 nsv517258 12 33192424 33194609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685113,nssv666365,nssv665244,nssv679691,nssv683101,nssv654148,nssv676575,nssv686704,nssv662377,nssv688368,nssv672390,nssv679217,nssv667675,nssv680285,nssv688547,nssv692445,nssv658785,nssv673944,nssv661831,nssv688700,nssv682551,nssv652063,nssv668785,nssv681430 M 2026 0 24 "" nsv528382 12 33192424 33201064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704971 S 2026 0 1 "" nsv514665 12 33192560 33198470 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628144 S 1414 0 1 "" nsv442643 12 33192673 33198641 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv270219 12 33217043 33223123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541042,essv2521216,essv2536526,essv2522754,essv2568166,essv2523160,essv2576596,essv2535402,essv2554098,essv2547477,essv2564725,essv2559619,essv2560953,essv2532822,essv2555256,essv2573787,essv2522549,essv2536049,essv2548885,essv2533230,essv2554554,essv2547769 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA11831,NA11894,NA11920,NA11931,NA11995,NA12004,NA12154,NA12249,NA12287,NA12717,NA12751,NA12776,NA18562,NA18576,NA18943,NA18951,NA18960 nsv519988 12 33224016 33228724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694358 S 2026 0 1 "" nsv511016 12 33253665 33294793 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618622 S 4 0 0 "" CHM nsv669 12 33254062 33310067 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9835,nssv1991,nssv10858,nssv1075,nssv9283,nssv5415 M 9 0 6 "" NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv832368 12 33260229 33479765 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449758 S 95 1 0 SYT10 nsv508669 12 33270134 33294793 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622656 S 4 0 1 "" NA18994 esv997389 12 33270866 33286685 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586024 S 3 0 1 "" HuRef nsv442644 12 33270866 33286685 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv820749 12 33271174 33286744 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420999 S 1 0 1 "" NA10851 nsv826316 12 33271174 33286744 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439195,nssv1431565,nssv1425251,nssv1433910,nssv1441411,nssv1438378,nssv1427753,nssv1436944,nssv1422087,nssv1435385,nssv1435349,nssv1432337,nssv1430843,nssv1428567,nssv1428874 M 31 0 15 "" AK10,AK16,AK18,AK2,AK20,AK8,NA18526,NA18542,NA18592,NA18942,NA18951,NA18968,NA18969,NA18973,NA18997 esv2468064 12 33271297 33286390 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323350 S 1 0 1 "" NA18507 nsv826317 12 33271538 33337695 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441412 S 31 0 1 "" NA18969 esv27460 12 33271548 33286744 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17955 S 451 18 10 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18511,NA18517,NA18523,NA18858,NA18907,NA18916,NA19108,NA19129,NA19147,NA19225,NA19240 esv1004681 12 33272471 33291630 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563733 S 3 0 1 "" HuRef nsv512264 12 33274827 33290010 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624839 S 1 0 1 "" 1 nsv436139 12 33274987 33289756 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466693 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2405881 12 33276295 33289733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688627 S 1 0 1 "" NA18507 nsv498787 12 33276371 33289627 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585648 S 9 0 1 "" esv6597 12 33276378 33289582 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29038 S 1 0 1 "" SJK esv2421424 12 33277097 33286685 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090436,essv5082087,essv5074421,essv5154055,essv5131780,essv5007264,essv5075419,essv5101453,essv5140131,essv5026866,essv5082434,essv5070794,essv5039368,essv5080243,essv5002531,essv5057581,essv5100058,essv5045205,essv5126741,essv5030675,essv5069922,essv5130499,essv5099235,essv5132700,essv5114682,essv5031697,essv5058875,essv5036046,essv5102264,essv5017031,essv5047444,essv5024311,essv5047497,essv5159058,essv5129768,essv5023270,essv5153326,essv5152412,essv5107996,essv5020152,essv5043608,essv5065696,essv5013786,essv5047442,essv5017386,essv5065750,essv5075022,essv5150422,essv5137954,essv5112323,essv5157486,essv5015200,essv5127374,essv5071283,essv5105773,essv5143910,essv5153483,essv5116333,essv5033653,essv5122330,essv5139691,essv5039597,essv5110572,essv5083052,essv5031288,essv5017903,essv5014089,essv5040890,essv5094353,essv5109660,essv5002973,essv5145184,essv5007296,essv5120460,essv5020052,essv5148814,essv5003337,essv5053330,essv5152148,essv5118371,essv5114082,essv5037776,essv5009161,essv5053090,essv5036666,essv5152617,essv5055044,essv5160706,essv5065289,essv5110161,essv5080674,essv5159668,essv5135710,essv5088718,essv5070950,essv5087831,essv5042302,essv5003258,essv5107214,essv5120973,essv5024960,essv5157872,essv5087722,essv5091659,essv5043654,essv5025851,essv5045351,essv5127736,essv5037823,essv5076142,essv5035227,essv5083677,essv5074939,essv5120240,essv5117281,essv5089547,essv5159892,essv5086162,essv5030644,essv5132540,essv5114607,essv5108700,essv5017525,essv5073492,essv5149383,essv5033805,essv5108983,essv5149056,essv5030320,essv5103755,essv5141577,essv5121197,essv5113912,essv5146148,essv5070819,essv5100500,essv5085393,essv5006107,essv5060187,essv5144654,essv5004880,essv5024888,essv5132068,essv5129362,essv5015304,essv5145167,essv5016525,essv5065813,essv5009376,essv5113371,essv5011376,essv5087811,essv5135211,essv5141414,essv5031529,essv5119571,essv5129635,essv5130585,essv5111124,essv5146201,essv5087394,essv5132467,essv5030528,essv5055193,essv5090375,essv5133349,essv5028486,essv5158575,essv5124225,essv5145924,essv5050190,essv5074300,essv5033818,essv5080668,essv5040686,essv5118838,essv5155042,essv5076875,essv5010240,essv5071846,essv5105669,essv5056724,essv5115834,essv5067534,essv5143687,essv5128157,essv5141437,essv5134917,essv5101722,essv5142138,essv5156849,essv5024319,essv5091590,essv5140878,essv5062554,essv5032926,essv5046892,essv5067398,essv5035269,essv5016545,essv5097251,essv5031077,essv5012067,essv5002429,essv5046769,essv5023114,essv5096372,essv5026293,essv5123144,essv5038713,essv5054944,essv5043709,essv5029100,essv5076443,essv5014146,essv5122001,essv5002529,essv5046140,essv5069424,essv5100748,essv5027864,essv5130616,essv5114132,essv5066855,essv5093009,essv5150482,essv5144160,essv5134494,essv5134540,essv5052913,essv5043425,essv5024270,essv5092273,essv5067773,essv5123195,essv5031196,essv5126281,essv5134835,essv5083260,essv5044938,essv5040148,essv5113375,essv5093047,essv5149600,essv5085121,essv5133276,essv5016618,essv5048032,essv5017899,essv5125300,essv5017505,essv5039491,essv5126836,essv5057724,essv5087475,essv5089409,essv5008814,essv5111094,essv5140813,essv5012708,essv5091754,essv5016141,essv5050097,essv5123183,essv5076578,essv5054796,essv5144479,essv5088694,essv5114325,essv5147603,essv5008485,essv5013207,essv5098311,essv5036091,essv5122150,essv5040237,essv5022231,essv5144988,essv5012372,essv5134623,essv5153231,essv5065143,essv5085512,essv5016615,essv5049512,essv5034269,essv5047744,essv5109702,essv5075322,essv5130212,essv5082158,essv5119580,essv5111797,essv5053543,essv5103405,essv5109500,essv5152812,essv5141693,essv5116147,essv5096992,essv5088164,essv5097606,essv5024970,essv5120704,essv5065969,essv5027246,essv5129434,essv5076107,essv5064094,essv5053894,essv5025670,essv5078278,essv5153449,essv5089694,essv5074203,essv5115795,essv5021418,essv5014560,essv5045148,essv5028211,essv5147478,essv5140198,essv5072320,essv5052445,essv5146137,essv5093874,essv5137964,essv5105976,essv5101769,essv5097242,essv5059902,essv5012456,essv5031463,essv5076945,essv5002731,essv5016310,essv5072802,essv5008253,essv5144326,essv5121705,essv5142063,essv5096563,essv5121308,essv5013759,essv5125521,essv5054174,essv5043081,essv5120146,essv5081854,essv5138443,essv5118633,essv5025147,essv5160491,essv5077577,essv5149736,essv5077920,essv5103710,essv5054425,essv5014827,essv5007660,essv5087466,essv5046535,essv5063847,essv5110340,essv5120807,essv5095780,essv5044236,essv5154110,essv5156524,essv5027918,essv5091459,essv5056189,essv5116025,essv5087766,essv5046882,essv5158237,essv5054787,essv5156166,essv5048930,essv5086163,essv5114884,essv5045630,essv5072017,essv5132034,essv5095819,essv5133798,essv5128500,essv5032888,essv5159021,essv5123778,essv5084324,essv5127634,essv5013370,essv5120099,essv5153620,essv5152309,essv5013962,essv5027982,essv5005164,essv5102551,essv5060786,essv5064267,essv5069430,essv5007812,essv5141885,essv5019148,essv5134385,essv5079335,essv5118906,essv5132786,essv5101264,essv5153444,essv5068135,essv5114990,essv5067359,essv5010826,essv5139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5080387,essv5067550 M 1184 0 835 "" NA06984,NA07051,NA07055,NA07346,NA07349,NA07357,NA10836,NA10852,NA10856,NA10865,NA11830,NA11891,NA11918,NA11919,NA11995,NA12045,NA12057,NA12239,NA12264,NA12275,NA12386,NA12400,NA12413,NA12708,NA12716,NA12748,NA12751,NA12753,NA12762,NA12763,NA12890,NA12892,NA17962,NA17965,NA17966,NA17967,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18610,NA18611,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18628,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18859,NA18860,NA18861,NA18867,NA18868,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18917,NA18923,NA18924,NA18925,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19002,NA19007,NA19009,NA19010,NA19027,NA19031,NA19035,NA19036,NA19038,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19064,NA19065,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19429,NA19430,NA19431,NA19434,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19449,NA19455,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19678,NA19680,NA19681,NA19682,NA19683,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19716,NA19718,NA19720,NA19722,NA19725,NA19726,NA19727,NA19746,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19771,NA19772,NA19773,NA19774,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19790,NA19794,NA19818,NA19819,NA19828,NA19834,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19917,NA19918,NA19919,NA19921,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20281,NA20282,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20357,NA20359,NA20364,NA20506,NA20510,NA20527,NA20528,NA20538,NA20543,NA20544,NA20582,NA20588,NA20752,NA20756,NA20768,NA20778,NA20785,NA20797,NA20799,NA20801,NA20802,NA20806,NA20813,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20850,NA20856,NA20858,NA20861,NA20862,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20892,NA20895,NA20896,NA20897,NA20898,NA20899,NA20902,NA20906,NA20907,NA20909,NA20910,NA20911,NA21086,NA21089,NA21090,NA21092,NA21101,NA21104,NA21107,NA21108,NA21109,NA21111,NA21116,NA21117,NA21123,NA21125,NA21142,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21313,NA21316,NA21317,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21382,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21391,NA21399,NA21400,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21613,NA21614,NA21615,NA21617,NA21620,NA21631,NA21634,NA21635,NA21650,NA21678,NA21682,NA21683,NA21686,NA21689,NA21693,NA21716,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21784,NA21826 nsv826318 12 33277717 33284456 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439912,nssv1437697,nssv1440587,nssv1423685,nssv1429311,nssv1433117,nssv1429331,nssv1422867,nssv1436110,nssv1424484,nssv1421658,nssv1434645,nssv1426971,nssv1430074 M 31 0 14 "" AK12,AK14,AK6,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18947,NA18949,NA18972,NA18999 nsv514666 12 33277916 33283884 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628145 S 1414 0 1 "" nsv507641 12 33281625 33287625 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620501 S 4 1 0 "" NA15510 nsv528000 12 33299398 33310842 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704525 S 2026 0 1 "" dgv496e1 12 33333291 34727104 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22933,esv640,essv20757 M 271 0 0 ALG10,SYT10 NA07357 nsv8944 12 33349293 33350848 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23029 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv670 12 33349718 33394367 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9017 S 9 0 1 "" NA12156 esv34883 12 33401400 34651600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990473,essv6987063,essv6987064,essv6980366 M 771 1 0 ALG10,SYT10 NA07357 nsv469348 12 33415349 34137023 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544239 S 1557 1 0 ALG10,SYT10 1780854197_A nsv818908 12 33415349 34565140 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418020 S 112 1 0 ALG10,SYT10 NA07357 nsv820253 12 33420568 33420851 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419681 S 2 0 1 SYT10 AK1 essv5432 12 33467973 33524866 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SYT10 NA18542 esv4613 12 33511743 33542094 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27054 S 1 0 1 Single Asian sample YH "" YH esv267437 12 33521239 33521632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510230,essv2510157,essv2511015,essv2503217,essv2496627,essv2495397,essv2495899,essv2505023,essv2494385,essv2509895,essv2496464,essv2493677,essv2506121,essv2498448,essv2505816,essv2495559,essv2503092,essv2497890,essv2502446,essv2512343,essv2493063,essv2501365,essv2506874,essv2506543,essv2499079,essv2509624,essv2497008,essv2499817,essv2511510,essv2504390 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10851,NA11829,NA11831,NA11881,NA11894,NA12287,NA12489,NA12828,NA18502,NA18508,NA18510,NA18517,NA18523,NA18858,NA18861,NA18916,NA18943,NA18945,NA18948,NA18949,NA18951,NA19093,NA19102,NA19108,NA19114,NA19129,NA19190,NA19225 nsv832369 12 33523495 33691008 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449759 S 95 1 0 "" nsv826319 12 33563326 33603768 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441413 S 31 0 1 "" NA18969 nsv819425 12 33599947 33604138 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419610 S 2 1 0 "" AK1 nsv511499 12 33606010 33609610 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626117 S 1 0 1 "" 1 nsv437741 12 33606133 33628125 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467622 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 nsv512265 12 33606134 33608340 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624840 S 1 0 1 "" 1 esv5524 12 33606390 33608232 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27965 S 1 0 1 "" SJK esv22740 12 33606396 33608182 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19995 S 451 25 1 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12414,NA12749,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 nsv820568 12 33606396 33608182 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421000 S 1 0 1 "" NA10851 nsv438202 12 33609514 33612689 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470417,nssv470415,nssv470416,nssv470414 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18871,NA18872,NA19127,NA19129 nsv818909 12 33611229 33626202 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416966 S 112 0 1 "" NA19137 nsv442263 12 33614743 33623007 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516215 12 33615916 33626202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659467,nssv666868,nssv692165,nssv687394,nssv690096,nssv668169,nssv689663,nssv689168 M 2026 0 8 "" nsv438203 12 33617670 33626050 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470418,nssv470420 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19098,NA19100 nsv469739 12 33629831 33813501 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649760 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv469350 12 33643597 34137023 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544241 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALG10 HGDP01232 nsv523443 12 33688021 34711193 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699199 S 2026 1 0 ALG10 esv2580443 12 33714666 33716394 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172454 S 1 0 1 "" NA18507 nsv512266 12 33715147 33716625 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624841 S 1 0 1 "" 1 esv270104 12 33715845 33715930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515438,essv2515009,essv2516462 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12812,NA12814 nsv8945 12 33778232 33779343 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21209 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 nsv8947 12 33781521 33791968 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19622 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 nsv832371 12 33782428 33944047 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449760 S 95 0 1 "" nsv671 12 33801893 33832865 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10859 S 9 1 0 "" NA18956 nsv8948 12 33859257 33870723 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20725,nssv24081 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18972,NA18980 nsv509463 12 33878698 33919108 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619595,nssv620965 M 4 2 0 "" NA10860,NA15510 essv7210 12 33884264 34084037 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ALG10 NA18547 nsv672 12 33901591 33910822 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6500,nssv4021 M 9 2 0 "" NA12156,NA12878 esv1005477 12 33907158 33908595 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563609 S 3 1 0 "" HuRef nsv8949 12 33985551 33986803 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20785 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv8950 12 33989629 34000478 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21958,nssv24158 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19144 esv27706 12 33990194 34000245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12237 S 451 0 2 "" NA18858,NA19114 nsv520568 12 34002761 34327658 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697491 S 2026 1 0 ALG10 nsv527701 12 34002761 34711193 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704179 S 2026 1 0 ALG10 dgv497e1 12 34051454 34266146 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7969,essv9574 M 271 0 0 ALG10 NA18501,NA19240 dgv498e1 12 34051454 34727104 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14261,essv13978 M 271 0 0 ALG10 NA19098,NA19100 nsv8951 12 34075687 34077082 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23716 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv673 12 34085666 34127052 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1076 S 9 0 1 "" NA19240 nsv469523 12 34086234 34188854 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649576 M 265 2 0 Samples from several populations that are part of the HapMap project. "" nsv8952 12 34090404 34099360 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23758 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 dgv499e1 12 34091669 34219171 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16610,essv8000,essv8262,essv13279,essv9272,essv8708 M 271 0 0 "" NA19137,NA19153,NA19200,NA19201,NA19208,NA19221 nsv436153 12 34096677 37022386 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466696 S 2 0 1 Samples from several populations that are part of the HapMap project. ALG10B NA18505 esv2579509 12 34098103 34108824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218984 S 1 0 1 "" NA18507 esv2066307 12 34098502 34108274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4523890 S 1 0 1 "" NA18507 esv23777 12 34098660 34108110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19226 S 451 0 9 "" NA18508,NA18517,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 nsv498788 12 34098678 34108087 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585649 S 9 0 1 "" nsv53752 12 34098682 34108086 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72330 M 24 "" nsv514667 12 34098708 34108396 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628146 S 1414 0 0 "" nsv8953 12 34099360 34108364 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23057,nssv23934,nssv25877,nssv23785 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18517,NA19132,NA19221,NA19240 nsv442645 12 34099623 34107572 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv500e1 12 34103379 34122207 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15946,essv12928,essv17385,essv11340,essv13336 M 271 0 0 "" NA18500,NA18515,NA18855,NA19094,NA19128 dgv501e1 12 34103379 34141643 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11369,essv14243,essv14938 M 271 0 0 "" NA19100,NA19127,NA19132 essv12083 12 34103379 34172968 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19099 dgv502e1 12 34103379 34277165 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10721,essv8395,essv13108 M 271 0 0 "" NA18508,NA18859,NA19093 nsv517511 12 34126870 34711193 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673433,nssv680339,nssv688044,nssv670417,nssv663815,nssv663277,nssv703935,nssv663572,nssv704427,nssv674433,nssv700802,nssv679398,nssv704944,nssv671541,nssv692986,nssv695199,nssv676002,nssv693564,nssv667935,nssv698922,nssv679335,nssv701377,nssv652236,nssv655730,nssv675596,nssv687395,nssv671043,nssv669793,nssv701187,nssv666249,nssv683639,nssv664159,nssv697492,nssv670643,nssv683274,nssv669961,nssv666869,nssv659630 M 2026 6 32 "" nsv8954 12 34142134 34153372 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21239 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv2421740 12 34144137 34153819 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017415,essv5111883,essv5156108,essv5115765,essv5151565,essv5086252,essv5136896,essv5109278,essv5101070,essv5019636,essv5069422,essv5148676,essv5139440,essv5152790,essv5038311,essv5017495,essv5108027,essv5022281,essv5093187,essv5067817,essv5083826,essv5151245,essv5060977,essv5120604,essv5026389,essv5034910,essv5063553,essv5063631,essv5029990,essv5153562 M 1184 0 30 "" NA17977,NA18101,NA18536,NA18910,NA19116,NA19131,NA19171,NA19173,NA19197,NA19199,NA19314,NA19437,NA19468,NA19471,NA19472,NA19649,NA19650,NA19701,NA19702,NA19749,NA19834,NA19836,NA19909,NA19919,NA20333,NA20544,NA20754,NA21090,NA21097,NA21141 esv2422068 12 34144137 34166673 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051592,essv5114684,essv5099855,essv5033444,essv5075924,essv5153976,essv5086177,essv5046893,essv5101520,essv5113347,essv5153294,essv5131834,essv5099688,essv5143849,essv5029355,essv5012896,essv5020225,essv5160416,essv5109443,essv5109317,essv5123764,essv5071141,essv5094072,essv5097083,essv5067196,essv5098950,essv5121469,essv5112556,essv5097644,essv5055420,essv5020101,essv5108536,essv5101942 M 1184 0 33 "" NA11893,NA12400,NA17977,NA17995,NA18101,NA18510,NA18536,NA19131,NA19171,NA19173,NA19197,NA19199,NA19314,NA19437,NA19473,NA19649,NA19650,NA19679,NA19701,NA19702,NA19749,NA19834,NA19836,NA19919,NA20300,NA20333,NA20343,NA20544,NA20754,NA20768,NA21090,NA21097,NA21141 nsv442264 12 34147976 34153819 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422009 12 34153819 34166673 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017273,essv5054590,essv5072916,essv5074897,essv5040282,essv5067463,essv5069173,essv5137126,essv5143689,essv5077625,essv5071331,essv5100243,essv5023671,essv5005025,essv5089806 M 1184 0 15 "" NA11893,NA12400,NA17977,NA17995,NA18101,NA18536,NA19649,NA19650,NA19749,NA20300,NA20544,NA20768,NA21090,NA21097,NA21141 esv27141 12 34162803 34168405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20811 S 451 0 1 "" NA12239 nsv442265 12 34206228 34694313 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv68e55 12 34237698 34651600 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34741,esv34666 M 771 2 0 "" NA19098,NA19100 esv2443942 12 34246841 34253532 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293788 S 1 0 1 "" NA18507 esv22507 12 34247151 34252713 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13967 S 451 0 6 "" NA18502,NA18508,NA18511,NA18858,NA19114,NA19225 nsv470283 12 34254964 34711194 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546933,nssv546934,nssv546930,nssv546931 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00457,HGDP01033,HGDP01084,HGDP01086 nsv428277 12 34285565 34462575 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452283 S 62 1 0 "" HGDP01086 dgv282n67 12 34308821 34447583 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826321,nsv826322,nsv826324,nsv826325,nsv826323 M 31 0 18 "" AK12,AK16,AK20,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18951,NA18973,NA18999 nsv819238 12 34321943 34431524 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418773 S 2 1 0 "" AK1 dgv195n27 12 34327658 34565140 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469352,nsv469351,nsv469353 M 1557 3 0 "" HGDP00457,HGDP01033,HGDP01086 nsv469354 12 34327658 34565140 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544245 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01338 esv24026 12 34375567 34400747 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10181 S 451 1 0 "" NA18502 dgv283n67 12 34376856 34430057 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826326,nsv826327 M 31 0 2 "" AK2,NA18942 nsv826328 12 34387951 34447225 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440589 S 31 1 0 "" NA18564 esv2017184 12 34444256 34444812 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640876 S 1 0 1 "" NA18507 essv21920 12 34445062 34650850 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12057 esv2535948 12 34553761 34555173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331191 S 1 0 1 "" NA18507 nsv437143 12 34587117 34604197 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467024 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10851 nsv821098 12 34589081 34605665 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421001 S 1 0 1 "" NA10851 esv28493 12 34589246 34747918 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20464,esv17283,esv17188,esv12649 M 451 35 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv2369640 12 34622671 34623135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510641 S 1 0 1 "" NA18507 nsv52761 12 34718281 34718416 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71339 M 24 "" esv7701 12 34728955 34742784 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30142 S 1 0 1 "" SJK esv5004 12 34730158 34747027 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27445 S 1 0 0 Single Asian sample YH "" YH esv6606 12 34732875 34737694 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29047 S 1 0 1 "" SJK esv9009 12 34737970 34738871 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31450 S 1 0 1 "" SJK esv4570 12 34742051 34744876 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27011 S 1 0 0 Single Asian sample YH "" YH nsv428278 12 36142962 36439696 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452284 S 62 1 0 "" NA19113 dgv503e1 12 36142962 36470532 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4858,essv863,essv9452 M 271 0 0 "" NA18540,NA19000,NA19208 dgv504e1 12 36142962 37321303 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7229,esv729,essv7628 M 271 0 0 ALG10B NA18547 esv27082 12 36142990 36166956 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20890 S 451 2 0 "" NA18858,NA18861 esv34542 12 36144000 37243600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979401,essv6979400,essv6979399,essv6990360,essv6986854,essv6986855 M 771 1 0 ALG10B NA18547 dgv1403n71 12 36144166 37245320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898985,nsv898973,nsv898974,nsv898986,nsv898992,nsv898972 M 6533 6 0 ALG10B MS10869,MS16117,MS18828,MS21314,SP54087,SP57042 nsv826329 12 36150549 36222789 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421683 S 31 1 0 "" NA18547 essv19733 12 36177141 36255461 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10859 nsv8956 12 36200442 36229150 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24236,nssv23961,nssv23770,nssv20596,nssv20346,nssv25919,nssv24108,nssv18995,nssv20985 M 31 3 6 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA18502,NA18517,NA18537,NA18552,NA18860,NA18972,NA19221 esv22452 12 36212174 36216199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15200 S 451 0 2 "" NA12287,NA12489 essv20020 12 36216093 36439696 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07048 nsv470284 12 36219721 36667313 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546935 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00619 nsv527488 12 36219721 36718276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703936 S 2026 0 1 "" nsv818910 12 36219721 37239340 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417169 S 112 1 0 ALG10B NA18547 nsv826330 12 36228682 36269912 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421695 S 31 1 0 "" NA18547 nsv8958 12 36250456 36269881 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20493 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 dgv1404n71 12 36251189 36840240 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898984,nsv898983,nsv898982,nsv898975,nsv898981,nsv898979 M 6533 6 0 "" IS32322,IS33162,IS41634,MS16408,SP55075,SP55886 dgv1405n71 12 36251189 36926880 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898976,nsv898978 M 6533 2 0 "" IS33044,MS18124 dgv1406n71 12 36255892 36759186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898980,nsv898977 M 6533 0 2 "" SP51145,SP53687 nsv508671 12 36259567 36559612 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618877 S 4 0 1 "" NA10860 nsv524507 12 36270798 36411114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700451 S 2026 0 1 "" esv23372 12 36276676 36736681 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21002,esv14665,esv13222,esv14765,esv18916 M 451 28 3 "" NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12749,NA12776,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820975 12 36276676 36736681 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421003 S 1 1 0 "" NA10851 esv8351 12 36277489 36280921 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30792 S 1 0 1 "" SJK esv5016 12 36277938 36304492 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27457 S 1 0 0 Single Asian sample YH "" YH nsv832372 12 36281502 36416018 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449770,nssv1449765,nssv1449761,nssv1449778,nssv1449777,nssv1449764,nssv1449769,nssv1449767,nssv1449768,nssv1449766,nssv1449776,nssv1449772,nssv1449771,nssv1449775,nssv1449763,nssv1449774 M 95 0 16 "" esv9505 12 36285961 36294863 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31946 S 1 0 1 "" SJK esv9113 12 36293346 36302659 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31554 S 1 0 1 "" SJK esv3731 12 36294130 36321363 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26172 S 1 0 0 Single Asian sample YH "" YH esv8120 12 36296407 36304373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30561 S 1 0 1 "" SJK nsv433420 12 36301572 36404411 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463301 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv898987 12 36302218 37378631 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571659 S 6533 1 0 ALG10B,CPNE8 IS32766 esv268745 12 36326894 36326979 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517155 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv437742 12 36328011 36407203 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467623 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv436143 12 36330136 36333810 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466697 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2421850 12 36339406 36394320 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038252,essv5018185,essv5056708,essv5077651,essv5034964,essv5125032,essv5032862,essv5064346,essv5154065,essv5048180,essv5004613,essv5154887,essv5087931,essv5151507,essv5135752,essv5014860,essv5109469,essv5080092,essv5042712,essv5147463,essv5075631,essv5094283,essv5010738,essv5003514,essv5157420,essv5092191,essv5076912,essv5082157,essv5029222,essv5053337,essv5116599,essv5133433,essv5033103,essv5068909,essv5024324 M 1184 0 35 "" NA18855,NA18870,NA19046,NA19102,NA19160,NA19172,NA19173,NA19185,NA19377,NA19467,NA20295,NA20300,NA20340,NA20343,NA20359,NA21362,NA21365,NA21385,NA21386,NA21389,NA21400,NA21414,NA21454,NA21455,NA21488,NA21510,NA21512,NA21523,NA21525,NA21527,NA21583,NA21716,NA21733,NA21740,NA21784 nsv442266 12 36340414 36394320 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1407n71 12 36346271 36696954 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv898988,nsv898989,nsv898991,nsv898993 M 6533 7 0 "" IS41410,MS13143,MS18406,MS19341,MS19736,SP55295,SP57593 esv2451588 12 36349706 36351955 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219542 S 1 0 1 "" NA18507 nsv515744 12 36354967 36667312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698992,nssv664648,nssv676003,nssv680585,nssv692090,nssv687129 M 2026 0 6 "" esv6102 12 36371072 36371942 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28543 S 1 0 1 "" SJK esv6765 12 36372238 36372709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29206 S 1 0 1 "" SJK esv6647 12 36377769 36379543 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29088 S 1 0 1 "" SJK esv2422349 12 36390141 37047914 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161396 S 181 1 0 ALG10B ND04361 esv2422488 12 36390141 37357001 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161452 S 181 1 0 ALG10B,CPNE8 ND01678 nsv898990 12 36392400 36667312 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582555,nssv1580043,nssv1580601,nssv1600479,nssv1529333 M 6533 1 4 "" IS35227,IS35388,IS35993,IS41889,SP81504 nsv438205 12 36397599 36433840 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470425,nssv470426,nssv470421,nssv470424,nssv470423,nssv470427,nssv470422 M 269 0 7 Samples from several populations that are part of the HapMap project. "" NA18853,NA18854,NA19100,NA19103,NA19132,NA19173,NA19208 esv1049382 12 36399844 36400526 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779132 S 2 0 1 "" HuRef nsv436049 12 36402187 36402358 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466698 S 2 1 0 "" NA15510 dgv1408n71 12 36407203 36696954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898995,nsv898994 M 6533 0 3 "" IS35190,IS35675,SP58090 esv1062559 12 36421360 36421360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840027 S 2 1 0 "" HuRef esv2576632 12 36429376 36432967 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321605 S 1 0 1 "" NA18507 nsv898996 12 36473503 36551835 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514329,nssv1499577 M 6533 2 0 "" SP50159,SP55992 dgv1409n71 12 36473503 36683460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv898997,nsv898998 M 6533 0 2 "" SP54792,SP55749 nsv832373 12 36476801 36681198 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449780,nssv1449779 M 95 0 2 "" nsv898999 12 36521108 36599054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500100 S 6533 0 1 "" SP50103 esv1234970 12 36525465 36525465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258193 S 2 1 0 "" HuRef nsv818912 12 36528296 36667312 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417686,nssv1417402 M 112 0 2 "" NA18951,NA18999 dgv196n27 12 36528296 37151333 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469355,nsv469357 M 1557 2 0 ALG10B 1780854401_A,NINDS_103 nsv469356 12 36528296 37473675 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544247 S 1557 1 0 ALG10B,CPNE8 NINDS_6 esv1945095 12 36562907 36563600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847360 S 1 0 1 "" NA18507 nsv442267 12 36565610 36578346 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818913 12 36599054 36667312 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417445 S 112 0 1 "" NA18953 nsv509464 12 36602088 36656360 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619599 S 4 1 0 "" NA10860 nsv511017 12 36602088 36795318 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624336 S 4 0 0 "" NA18994 esv9471 12 36604447 36604597 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31912 S 1 0 0 "" SJK esv1515400 12 36604792 36604792 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280146 S 2 1 0 "" HuRef nsv899000 12 36613916 36696954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512572 S 6533 0 1 "" SP55557 nsv899001 12 36627461 36683460 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519512,nssv1516686,nssv1519464 M 6533 3 0 "" SP56890,SP81039,SP81067 nsv899002 12 36627461 36711249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502738 S 6533 1 0 "" SP51368 nsv899003 12 36640679 36683460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500493 S 6533 0 1 "" SP50521 esv1725108 12 36653132 36653132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072080 S 2 1 0 "" HuRef esv2751097 12 36671779 37129708 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988771,essv6984216,essv6984217,essv6984218,essv6987531 M 771 1 0 ALG10B BEC_810 esv8130 12 36681804 36686283 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30571 S 1 0 1 "" SJK nsv510292 12 36700362 36706362 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622208 S 4 0 1 "" NA10860 nsv899004 12 36711249 37016722 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518788 S 6533 1 0 ALG10B SP58114 nsv826332 12 36728814 37244705 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421707 S 31 1 0 ALG10B NA18547 nsv8959 12 36728858 36738532 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23812,nssv25940,nssv20845,nssv23797 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18980,NA19132,NA19221 nsv899005 12 36760067 36895413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575836 S 6533 1 0 "" IS33829 nsv512267 12 36770840 36779785 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624842 S 1 0 1 "" 1 nsv8960 12 36797896 36817772 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20376,nssv23839 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA19132 dgv1410n71 12 36821928 37137909 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899006,nsv899007 M 6533 2 0 ALG10B MS18406,SP57593 essv22991 12 36860465 37089322 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ALG10B NA07357 nsv8961 12 36885435 36893509 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21517,nssv23866,nssv22954,nssv20875 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA11830,NA18504,NA18980,NA19132 esv1009575 12 36886269 36887344 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586372 S 3 0 1 "" HuRef nsv8962 12 36903982 36918798 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24262 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv674 12 36931839 36965538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9018 S 9 1 0 "" NA12156 nsv442268 12 36947182 36955164 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv284n67 12 36949042 36953361 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826333,nsv826334 M 31 0 2 "" NA18570,NA18997 nsv899008 12 36978814 37078615 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549200 S 6533 1 0 ALG10B MS18124 nsv8963 12 37005019 37011755 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20905 S 31 0 1 Samples from several populations that are part of the HapMap project. ALG10B NA18980 nsv826335 12 37006282 37006925 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437699 S 31 1 0 ALG10B NA18949 esv2362578 12 37006377 37006750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755769 S 1 0 1 ALG10B NA18507 dgv285n67 12 37006500 37006974 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826337,nsv826336 M 31 3 0 ALG10B AK14,AK8,NA18570 esv1629774 12 37010538 37010538 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901939 S 2 1 0 "" HuRef esv2617693 12 37014643 37017327 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311715 S 1 0 1 "" NA18507 esv2334960 12 37015668 37017253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610230 S 1 0 1 "" NA18507 esv28182 12 37031288 37042019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10100 S 451 0 2 "" NA19108,NA19240 nsv8964 12 37034587 37042747 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25991,nssv23115 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19221,NA19240 nsv510293 12 37090157 37096157 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621382,nssv618364 M 4 0 2 "" CHM,NA15510 nsv8965 12 37151411 37157067 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21269 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv469358 12 37205791 37275672 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544249 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00313 esv22995 12 37207571 37209723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20084 S 451 0 1 "" NA12004 nsv470285 12 37236349 37294016 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546936 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00313 dgv505e1 12 37328102 37332250 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7634,esv1111 M 271 0 0 "" NA18547 nsv675 12 37399415 37430093 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10860 S 9 1 0 CPNE8 NA18956 nsv676 12 37470626 37502089 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1992 S 9 0 1 CPNE8 NA18555 nsv899009 12 37570344 37727363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578759 S 6533 0 1 CPNE8 IS34896 nsv52810 12 37582347 37582448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71388 M 24 CPNE8 nsv826338 12 37649825 37650656 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424486 S 31 1 0 "" NA18582 esv1777229 12 37664522 37664522 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357114 S 2 1 0 "" HuRef nsv826339 12 37667417 37672917 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436945 S 31 1 0 "" NA18542 esv1757996 12 37670526 37670865 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215325 S 2 0 1 "" HuRef esv24322 12 37744489 37769756 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21411,esv14557 M 451 1 1 "" NA12156,NA18505 nsv436824 12 37747890 37762728 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466700 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv678 12 37752064 37775663 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6501 S 9 0 1 "" NA12156 nsv832374 12 37754701 37916636 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449781,nssv1449782 M 95 0 2 "" nsv498789 12 37764190 37769406 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585650 S 9 0 1 "" nsv679 12 37779425 37813089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9020 S 9 1 0 "" NA12156 dgv1411n71 12 37798991 37880773 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899012,nsv899010,nsv899011 M 6533 8 0 "" MS12721,MS15092,MS17751,MS18830,MS23143,MS25190,MS25617,SP81461 nsv899013 12 37854212 38018697 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599909 S 6533 1 0 KIF21A IS41807 dgv21n68 12 37885629 38094544 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832376,nsv832375 M 95 2 0 KIF21A nsv826340 12 37922679 37923123 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439198 S 31 0 1 "" NA18973 nsv470286 12 37938160 38015967 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546937 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIF21A HGDP00903 esv2494882 12 37988033 37989496 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363704 S 1 0 1 KIF21A NA18507 nsv680 12 38079151 38112883 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1077 S 9 1 0 KIF21A NA19240 esv6322 12 38083189 38083295 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28763 S 1 1 0 KIF21A SJK nsv522940 12 38232621 38284411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698603 S 2026 0 1 ABCD2 dgv197n27 12 38232621 38328487 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469361,nsv469359 M 1557 0 2 ABCD2,C12orf40 HGDP00994,HGDP01414 dgv1412n71 12 38232621 38404516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899014,nsv899015,nsv899018,nsv899017 M 6533 0 4 ABCD2,C12orf40 IS31041,MS18847,SP50120,SP56004 dgv1413n71 12 38235414 38291173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899019,nsv899016 M 6533 0 2 ABCD2 SP50073,SP55683 nsv519635 12 38271473 38284411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684065,nssv657271 M 2026 0 2 ABCD2 dgv1414n71 12 38271473 38339690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899020,nsv899021 M 6533 0 2 ABCD2,C12orf40 SP50137,SP50144 esv2619796 12 38292153 38293739 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252953 S 1 0 1 ABCD2 NA18507 esv2007616 12 38292980 38293682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521785 S 1 0 1 ABCD2 NA18507 nsv899022 12 38300694 38398028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517885 S 6533 0 1 C12orf40 SP57401 esv271024 12 38331425 38331698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543951,essv2550470,essv2564043 M 157 3 0 Samples from several populations that are part of the HapMap project. C12orf40 NA11992,NA12234,NA12828 nsv899023 12 38332675 38398028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513835,nssv1500170 M 6533 0 2 C12orf40 SP50530,SP55851 nsv899024 12 38332675 38475137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592569 S 6533 0 1 C12orf40,SLC2A13 IS39243 esv1444745 12 38333674 38333674 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024883 S 2 1 0 C12orf40 HuRef esv2452886 12 38389894 38393468 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204080 S 1 0 1 C12orf40 NA18507 nsv53793 12 38393412 38393479 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72371 M 24 C12orf40 esv1277090 12 38394183 38394183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186522 S 2 1 0 C12orf40 HuRef nsv428280 12 38408980 38485888 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452289 S 62 0 1 SLC2A13 HGDP00986 esv270921 12 38433406 38434663 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509716,essv2506038,essv2513470,essv2501262,essv2498807 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18523,NA18907,NA19093,NA19138 nsv899025 12 38478045 38608113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556643 S 6533 0 1 SLC2A13 MS22104 nsv899026 12 38565695 38588848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575411 S 6533 0 1 SLC2A13 IS33738 nsv522471 12 38570933 38575057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705835 S 2026 0 1 SLC2A13 dgv506e1 12 38586180 38618120 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15444,essv12149,esv1187,essv12878 M 271 0 0 SLC2A13 NA18502,NA18505,NA19206 nsv8966 12 38587700 38602567 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23824 S 31 0 1 Samples from several populations that are part of the HapMap project. SLC2A13 NA18502 nsv436152 12 38587871 38602453 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466701 S 2 0 1 Samples from several populations that are part of the HapMap project. SLC2A13 NA18505 esv2421863 12 38587878 38601020 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052713,essv5028905,essv5089686,essv5152759,essv5055038,essv5046921,essv5160274,essv5115586,essv5034038,essv5073315,essv5110138,essv5075134,essv5012339 M 1184 0 13 SLC2A13 NA18505,NA18867,NA18869,NA19044,NA19114,NA19179,NA19198,NA19206,NA19226,NA19317,NA19435,NA19452,NA20317 esv22092 12 38587960 38602161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19327 S 451 0 3 SLC2A13 NA18502,NA18505,NA19114 nsv515811 12 38588866 38598763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662450,nssv686637,nssv656698,nssv675332,nssv676318,nssv664847 M 2026 0 6 SLC2A13 nsv442269 12 38589773 38601293 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC2A13 nsv514669 12 38589844 38600052 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628148 S 1414 0 1 SLC2A13 nsv8967 12 38614179 38617204 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23143 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC2A13 NA19240 nsv681 12 38635437 38666133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10861 S 9 1 0 SLC2A13 NA18956 nsv899027 12 38674777 38714828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600422 S 6533 0 1 SLC2A13 IS41881 nsv819704 12 38728252 38729142 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419110 S 2 0 1 SLC2A13 AK1 dgv1415n71 12 38764919 38822328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899028,nsv899029 M 6533 0 2 SLC2A13 IS33738,IS33786 esv27366 12 38785735 38786294 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19723 S 451 0 1 SLC2A13 NA07045 dgv1416n71 12 38795608 38866707 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899031,nsv899030 M 6533 0 3 "" IS35100,IS37065,MS11467 nsv519063 12 38822328 38825125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696535 S 2026 0 1 "" nsv510294 12 38835680 38841680 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618365 S 4 0 1 "" CHM nsv437743 12 38840926 38843127 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467624 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 esv1215291 12 38927733 38927831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325628 S 2 0 1 LRRK2 HuRef nsv819273 12 38931333 38932228 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419112 S 2 1 0 LRRK2 AK1 esv2454181 12 38958669 38959810 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376839 S 1 1 0 LRRK2 NA18507 esv273841 12 38959246 38959608 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580222,essv2580503 M 7 2 0 Samples from several populations that are part of the HapMap project. LRRK2 NA12878,NA12891 esv268820 12 38959261 38959589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558232,essv2565670,essv2540767,essv2571832,essv2546444,essv2521037,essv2542325,essv2536478,essv2543919,essv2556611,essv2577621,essv2570630,essv2548583,essv2521797,essv2534983,essv2544541,essv2552241,essv2520443,essv2547202,essv2558644,essv2564774,essv2577720,essv2553827,essv2565467,essv2576413,essv2554929,essv2530715,essv2561945,essv2528419,essv2557381,essv2557006,essv2552413,essv2562682,essv2569587,essv2550013,essv2561656,essv2544756,essv2562944,essv2552983,essv2541128,essv2538347,essv2540294,essv2565076,essv2539721,essv2519593,essv2522022,essv2566234,essv2531013,essv2528934,essv2567367,essv2570266,essv2563584,essv2553390,essv2535825,essv2572590,essv2559169,essv2541944,essv2551053,essv2569039,essv2543404,essv2562281,essv2539417,essv2533560,essv2555773,essv2566481,essv2527550,essv2556007,essv2534232,essv2526893,essv2529815,essv2575646,essv2575177,essv2538521,essv2524221,essv2572678,essv2568589,essv2571484,essv2574141,essv2551340,essv2535989,essv2537895,essv2548920,essv2533395,essv2563126 M 157 84 0 Samples from several populations that are part of the HapMap project. LRRK2 NA06986,NA07000,NA07037,NA07051,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11919,NA11920,NA11992,NA11994,NA12043,NA12044,NA12045,NA12144,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12872,NA12873,NA12874,NA12891,NA18499,NA18501,NA18502,NA18507,NA18508,NA18511,NA18523,NA18526,NA18532,NA18542,NA18545,NA18547,NA18552,NA18558,NA18563,NA18566,NA18571,NA18572,NA18573,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18909,NA18912,NA18944,NA18945,NA18948,NA18952,NA18956,NA18959,NA19005,NA19093,NA19099,NA19102,NA19108,NA19129,NA19143,NA19147,NA19238,NA19240,NA19257 nsv832377 12 38991148 39141490 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449786 S 95 1 0 LRRK2 nsv899032 12 39022206 39113746 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551354 S 6533 0 1 LRRK2 MS18847 esv2432211 12 39038068 39039683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162439 S 1 0 1 LRRK2 NA18507 nsv899033 12 39044919 39408555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524034 S 6533 0 1 CNTN1,LRRK2 SP54802 esv274613 12 39046427 39046512 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581628 S 7 1 0 Samples from several populations that are part of the HapMap project. LRRK2 NA12878 nsv470287 12 39095654 39112112 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546939,nssv546938 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863,HGDP01397 dgv37n17 12 39099031 39107443 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437744,nsv437745 M 60 0 2 "" NA18857,NA19154 nsv442646 12 39103864 39107744 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421846 12 39103864 39107745 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143117,essv5130773,essv5072829,essv5091112,essv5094175,essv5158257,essv5006286,essv5010493,essv5011211,essv5134079,essv5086126,essv5093217,essv5086875,essv5078395,essv5065403,essv5098819,essv5077654,essv5028351,essv5033756,essv5096192,essv5115700,essv5089271,essv5035595,essv5036316,essv5063122,essv5080441,essv5110696,essv5142367,essv5106168,essv5047770,essv5123210,essv5011796,essv5003474,essv5025894,essv5026600 M 1184 0 35 "" NA18484,NA18485,NA18486,NA18487,NA18855,NA18857,NA18874,NA18916,NA19027,NA19140,NA19141,NA19142,NA19150,NA19151,NA19152,NA19154,NA19160,NA19161,NA19327,NA19379,NA19382,NA19384,NA19393,NA19396,NA19397,NA19462,NA19467,NA19474,NA19819,NA19828,NA20287,NA20297,NA20341,NA21682,NA21693 esv21932 12 39104029 39107939 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14426 S 451 0 1 "" NA18916 nsv514670 12 39104192 39107720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628149 S 1414 0 1 "" dgv69e55 12 39104262 39107745 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34373,esv34482 M 771 0 2 "" NA19140,NA19142 nsv818914 12 39104527 39106899 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416786,nssv1416105,nssv1416117,nssv1416094,nssv1416787 M 112 0 5 "" NA19140,NA19141,NA19142,NA19160,NA19161 nsv438206 12 39104527 39106948 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470433,nssv470432,nssv470431,nssv470429,nssv470434,nssv470428 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18855,NA18857,NA19140,NA19142,NA19152,NA19154 nsv515583 12 39104527 39111184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664002,nssv693094,nssv665797,nssv658636,nssv656275,nssv660302,nssv685453,nssv693400 M 2026 0 8 "" nsv522066 12 39106899 39116850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694837 S 2026 0 1 "" esv268931 12 39119028 39119364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514670,essv2517096,essv2518684,essv2518463,essv2514951,essv2515730,essv2518114,essv2514260,essv2517340,essv2513946,essv2518200,essv2519354 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11931,NA12045,NA12287,NA12812,NA12815,NA12872,NA12874,NA18970,NA19143,NA19240 esv273556 12 39119028 39119364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581191 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv526848 12 39130103 39134380 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703206 S 2026 1 0 "" nsv518952 12 39143887 39153600 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696420 S 2026 1 0 "" esv2476758 12 39150509 39151979 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242523 S 1 0 1 "" NA18507 esv2048308 12 39151094 39151530 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996574 S 1 0 1 "" NA18507 esv25845 12 39154141 39171424 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20428,esv16680,esv17196 M 451 10 9 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12006,NA12287,NA12414,NA12749,NA12776,NA15510,NA18907,NA19114,NA19129 nsv509465 12 39155866 39200135 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618092,nssv620966,nssv619605 M 4 3 0 "" CHM,NA10860,NA15510 nsv516022 12 39159293 39160355 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662946,nssv657806,nssv688518,nssv705713,nssv678138,nssv677788,nssv660778,nssv665775,nssv671701,nssv685902 M 2026 1 9 "" nsv821471 12 39159324 39171399 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421004 S 1 1 0 "" NA10851 nsv511492 12 39159518 39162911 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626109 S 1 0 1 "" 1 esv2537704 12 39160637 39164564 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198963 S 1 0 1 "" NA18507 dgv9e194 12 39160813 39163024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2244044,esv2383828 M 1 0 1 "" NA18507 dgv286n67 12 39161033 39162188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826341,nsv826343 M 31 0 2 "" AK14,NA18999 esv9331 12 39161036 39162698 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31772 S 1 0 1 "" SJK nsv826344 12 39161731 39162188 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422089,nssv1426976 M 31 0 2 "" AK6,NA18997 esv9458 12 39163213 39164016 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31899 S 1 0 1 "" SJK nsv8969 12 39163332 39170649 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20704 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 esv2427709 12 39164254 39170509 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317507 S 1 0 1 "" NA18507 nsv52989 12 39165940 39166416 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71567 M 24 "" dgv38n17 12 39166327 39170933 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437748,nsv437749,nsv437747,nsv437750 M 60 0 4 "" NA18863,NA19100,NA19120,NA19145 esv1978981 12 39166363 39166783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636332 S 1 0 1 "" NA18507 nsv682 12 39166516 39205668 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10902,nssv9947,nssv1993,nssv1078,nssv5416 M 9 5 0 "" NA15510,NA18507,NA18555,NA19129,NA19240 esv1007128 12 39167720 39167779 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572574 S 3 0 1 "" HuRef esv996769 12 39168031 39172864 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565618 S 3 0 1 "" HuRef esv996068 12 39168223 39169902 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568315 S 3 0 1 "" HuRef nsv438207 12 39168293 39169671 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470436,nssv470435,nssv470437,nssv470439,nssv470438 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18594,NA18605,NA18608,NA18968,NA18975 nsv53241 12 39170449 39170508 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71819 M 24 "" nsv81 12 39175711 39182456 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv81 S 1 1 0 "" NA15510 nsv513748 12 39184389 39194884 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627000 S 1 1 0 "" 1 esv987871 12 39184463 39185606 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563695 S 3 1 0 "" HuRef nsv512268 12 39185267 39191989 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624843 S 1 0 1 "" 1 esv9377 12 39185455 39191322 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31818 S 1 0 1 "" SJK nsv8970 12 39190361 39237480 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20626 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv832378 12 39229378 39418572 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449787 S 95 1 0 CNTN1 nsv683 12 39237740 39282525 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5417 S 9 0 1 "" NA19129 nsv519683 12 39253636 39273835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657556,nssv682056 M 2026 0 2 "" dgv12n50 12 39313205 39315518 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512269,nsv511504 M 1 0 1 "" 1 esv2655104 12 39313405 39315337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215726 S 1 0 1 "" NA18507 esv2035164 12 39314126 39315486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552197 S 1 0 1 "" NA18507 esv22002 12 39314324 39315241 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10952 S 451 0 2 "" NA19114,NA19129 nsv832379 12 39340707 39519016 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449788 S 95 1 0 CNTN1 esv269237 12 39350842 39350927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514222 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv2751098 12 39368666 39466502 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987243,essv6987244,essv6985744,essv6985745,essv6985746 M 771 1 0 CNTN1 SPC_4 nsv832380 12 39418573 39610228 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449789,nssv1449790 M 95 0 2 CNTN1 nsv52882 12 39429617 39429873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71460 M 24 CNTN1 nsv826345 12 39434463 39437436 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428568 S 31 0 1 CNTN1 AK10 esv995948 12 39453705 39453764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568232 S 3 0 1 CNTN1 HuRef nsv53030 12 39453706 39453765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71608 M 24 CNTN1 esv1359669 12 39453741 39453801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265918 S 2 0 1 CNTN1 HuRef esv2498446 12 39468923 39470503 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378154 S 1 0 1 CNTN1 NA18507 esv1920593 12 39469283 39469948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913786 S 1 0 1 CNTN1 NA18507 esv5231 12 39469391 39469848 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27672 S 1 0 1 Single Asian sample YH CNTN1 YH esv997554 12 39469462 39469767 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579477 S 3 0 1 CNTN1 HuRef esv1616736 12 39469463 39469769 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236490 S 2 0 1 CNTN1 HuRef esv7063 12 39469463 39469774 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29504 S 1 0 1 CNTN1 SJK nsv524407 12 39576804 39577669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700327 S 2026 0 1 CNTN1 nsv523801 12 39577669 39578736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699630 S 2026 0 1 CNTN1 nsv826346 12 39599415 39661100 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441414 S 31 0 1 CNTN1 NA18969 nsv826347 12 39634244 39634693 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439199 S 31 0 1 CNTN1 NA18973 nsv832382 12 39645817 39775948 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449791 S 95 0 1 CNTN1 esv1646892 12 39663948 39663998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297948 S 2 0 1 CNTN1 HuRef esv1308804 12 39737040 39737165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844328 S 2 0 1 CNTN1 HuRef esv26198 12 39780913 39804088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14849 S 451 0 1 "" NA19147 nsv684 12 39786179 39831306 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9021 S 9 0 1 "" NA12156 nsv52737 12 39795744 39799999 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71315 M 24 "" nsv899034 12 39801357 39984609 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536578 S 6533 1 0 PDZRN4 MS12856 nsv899035 12 39834812 39997179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579860 S 6533 0 1 PDZRN4 IS35181 nsv517338 12 39940246 39948720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675577,nssv677668,nssv683666,nssv667059,nssv662712,nssv668127,nssv654282,nssv654948,nssv651772,nssv665285,nssv679316,nssv693429,nssv693595,nssv688519,nssv693146,nssv680995,nssv678213,nssv689868,nssv662268,nssv683776,nssv687661,nssv678167,nssv677522,nssv691369,nssv665989,nssv664363,nssv671907,nssv665923,nssv662923,nssv670091,nssv668227,nssv667791,nssv688701,nssv673250,nssv685868,nssv660268,nssv664450,nssv683302 M 2026 0 38 PDZRN4 esv2648805 12 39945552 39947150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328942 S 1 0 1 PDZRN4 NA18507 esv2204947 12 39945898 39946595 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4581432 S 1 0 1 PDZRN4 NA18507 esv3999 12 39946053 39946522 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26440 S 1 0 1 Single Asian sample YH PDZRN4 YH nsv52593 12 39946084 39946400 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71171 M 24 PDZRN4 esv991188 12 39946091 39946407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585453 S 3 0 1 PDZRN4 HuRef esv5502 12 39946096 39946410 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27943 S 1 0 1 PDZRN4 SJK esv1562276 12 39946098 39946415 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243250 S 2 0 1 PDZRN4 HuRef esv29365 12 39972034 39973424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20846 S 451 0 2 PDZRN4 NA18517,NA19190 nsv832383 12 39979565 40133201 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449792 S 95 1 0 PDZRN4 nsv826348 12 40038985 40040514 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434649 S 31 0 1 PDZRN4 NA18570 esv5085 12 40043674 40043926 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27526 S 1 0 1 Single Asian sample YH PDZRN4 YH esv1009674 12 40043704 40043791 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580318 S 3 0 1 PDZRN4 HuRef esv1158500 12 40043704 40043792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264530 S 2 0 1 PDZRN4 HuRef nsv832384 12 40058915 40257697 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449796,nssv1449794,nssv1449793 M 95 3 0 PDZRN4 dgv1417n71 12 40063411 40099474 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899036,nsv899039 M 6533 2 0 PDZRN4 SP50695,SP50882 dgv1418n71 12 40063411 40105482 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899037,nsv899038 M 6533 5 0 PDZRN4 SP52080,SP53528,SP54682,SP54983,SP56419 dgv507e1 12 40067025 40102269 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2159,esv1038 M 271 0 0 PDZRN4 NA18978 nsv818915 12 40071264 40097330 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417620 S 112 1 0 PDZRN4 NA18978 esv2487088 12 40133567 40134598 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390988 S 1 1 0 PDZRN4 NA18507 esv269469 12 40133953 40134219 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516799,essv2514071,essv2518677,essv2518590,essv2515142,essv2515760,essv2518127,essv2514300,essv2517643,essv2516205,essv2513976,essv2515266,essv2518931,essv2518283,essv2513651 M 157 15 0 Samples from several populations that are part of the HapMap project. PDZRN4 NA07347,NA11881,NA12043,NA12045,NA12287,NA12812,NA12815,NA12872,NA12874,NA12878,NA12891,NA19143,NA19238,NA19239,NA19240 esv273115 12 40133957 40134215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581834,essv2582579,essv2584348,essv2584402,essv2583864 M 7 5 0 Samples from several populations that are part of the HapMap project. PDZRN4 NA12878,NA12891,NA19238,NA19239,NA19240 esv994358 12 40133974 40133974 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574347 S 3 1 0 PDZRN4 HuRef esv1471392 12 40133990 40133990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986380 S 2 1 0 PDZRN4 HuRef esv2012474 12 40138880 40139319 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770244 S 1 0 1 PDZRN4 NA18507 esv2627708 12 40158925 40160338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205254 S 1 0 1 PDZRN4 NA18507 nsv826349 12 40165113 40197762 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439200 S 31 0 1 PDZRN4 NA18973 nsv899040 12 40192164 40467973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536579 S 6533 1 0 PDZRN4 MS12856 nsv832385 12 40245630 40252528 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449797 S 95 0 1 PDZRN4 nsv899041 12 40291957 40358781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555312 S 6533 0 1 "" MS21258 nsv521917 12 40296986 40299434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694688 S 2026 0 1 "" nsv832386 12 40303526 40475743 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449798 S 95 1 0 "" nsv899042 12 40317398 40358781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549344 S 6533 0 1 "" MS18195 nsv520892 12 40324438 40344405 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683046,nssv677087 M 2026 2 0 "" dgv1419n71 12 40344405 40607428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899044,nsv899043 M 6533 0 3 "" IS38337,IS41903,MS16667 nsv899045 12 40404329 40460698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559641 S 6533 0 1 "" MS24073 nsv826350 12 40420590 40426995 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426047 S 31 1 0 "" AK4 nsv522657 12 40510567 40513143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706059 S 2026 0 1 "" nsv512270 12 40524181 40525213 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624846 S 1 0 1 "" 1 esv3346 12 40524285 40525288 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25787 S 1 0 1 Single Asian sample YH "" YH nsv52888 12 40524321 40525144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71466 M 24 "" esv9572 12 40524322 40525157 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32013 S 1 0 1 "" SJK esv1006963 12 40524328 40525151 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582038 S 3 0 1 "" HuRef esv1463140 12 40524337 40525161 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196358 S 2 0 1 "" HuRef nsv899046 12 40557567 40578195 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516440 S 6533 1 0 "" SP56833 esv2141246 12 40613136 40613580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789431 S 1 0 1 "" NA18507 nsv832387 12 40631808 40751772 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449799 S 95 0 1 "" esv272379 12 40667312 40668982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580114,essv2580459,essv2579341,essv2579642 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv685 12 40706990 40721094 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9022 S 9 0 1 "" NA12156 esv2025559 12 40767886 40777602 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729907 S 1 0 1 GXYLT1 NA18507 nsv53273 12 40768966 40768966 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71851 M 24 GXYLT1 dgv287n67 12 40870485 40962548 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826352,nsv826351 M 31 2 0 YAF2 NA18969,NA18973 nsv437751 12 40872908 40885389 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467632 S 60 0 1 Samples from several populations that are part of the HapMap project. YAF2 NA19094 esv24282 12 40984186 40986093 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20071 S 451 0 1 "" NA18517 esv270230 12 41099703 41099788 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517924 S 157 1 0 Samples from several populations that are part of the HapMap project. PPHLN1 NA12872 nsv832388 12 41164595 41373336 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449800,nssv1449801 M 95 1 1 PRICKLE1 nsv522388 12 41172484 41176358 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695168 S 2026 1 0 PRICKLE1 nsv524513 12 41172484 41181668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700457 S 2026 0 1 PRICKLE1 esv989438 12 41267333 41274966 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563787 S 3 0 1 PRICKLE1 HuRef nsv832389 12 41289628 41460163 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449802 S 95 1 0 "" nsv820117 12 41305837 41313748 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419849 S 2 0 1 "" AK1 dgv288n67 12 41306400 41313702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826354,nsv826355 M 31 0 14 "" AK14,AK20,AK4,AK8,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18972 esv29183 12 41306568 41313808 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19500 S 451 0 2 "" NA12004,NA12776 esv32880 12 41306841 41313692 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101240,essv96800,essv97902,essv93149,essv92952,essv93614,essv99655,essv97974 M 51 0 8 "" 21618,21659,21837,21863,21939,21972,22217,22259 nsv512271 12 41330191 41332833 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624847 S 1 0 1 "" 1 nsv511493 12 41331547 41332446 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626111 S 1 0 1 "" 1 esv25723 12 41331576 41332141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10583 S 451 0 1 "" NA11931 esv270696 12 41411495 41417636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501102,essv2510489,essv2502139 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA19172,NA19257 esv26190 12 41438489 41439546 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16183,esv11145 M 451 0 5 "" NA18505,NA18517,NA18523,NA19108,NA19147 esv2518252 12 41543149 41543418 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229716 S 1 1 0 "" NA18507 nsv513358 12 41543207 41543586 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625709 S 1 1 0 "" 1 esv1382482 12 41543252 41543252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070949 S 2 1 0 "" HuRef nsv899047 12 41755579 41823785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577805,nssv1550229,nssv1553944 M 6533 0 3 "" IS34572,MS18375,MS20440 esv273739 12 41774218 41774303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581496 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv52801 12 41794045 41794045 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71379 M 24 "" esv268016 12 41926988 41927332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495896,essv2503405,essv2497117,essv2497748,essv2508244,essv2507857,essv2506359,essv2508170,essv2512324,essv2500538 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12489,NA12716,NA18552,NA18555,NA18561,NA18564,NA18566,NA18579,NA18949,NA18956 esv2543842 12 41940128 41941603 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375925 S 1 0 1 "" NA18507 esv1949981 12 41940502 41941195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577077 S 1 0 1 "" NA18507 esv5488 12 41940669 41941024 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27929 S 1 0 1 "" SJK esv6336 12 41957023 41957139 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28777 S 1 1 0 "" SJK esv268343 12 42004178 42004525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576029,essv2521291,essv2536639,essv2523006,essv2570812,essv2523210,essv2577495,essv2570685,essv2548326,essv2521725,essv2576803,essv2550357,essv2535221,essv2553943,essv2552278,essv2547250,essv2577832,essv2520024,essv2563988,essv2554898,essv2562017,essv2537679,essv2528235,essv2546681,essv2540119,essv2557524,essv2551772,essv2532351,essv2536937,essv2527222,essv2544809,essv2562997,essv2523611,essv2552928,essv2541349,essv2538220,essv2542628,essv2540438,essv2524469,essv2565081,essv2534537,essv2561214,essv2539839,essv2549216,essv2519686,essv2559869,essv2522080,essv2566175,essv2532654,essv2567900,essv2528884,essv2567531,essv2541747,essv2570068,essv2563858,essv2553480,essv2535673,essv2572323,essv2559258,essv2551196,essv2556273,essv2528022,essv2562516,essv2533944,essv2578199,essv2573030,essv2555448,essv2533609,essv2555592,essv2567093,essv2527611,essv2555845,essv2534316,essv2522453,essv2531461,essv2573465,essv2576940,essv2572035,essv2525588,essv2575102,essv2538642,essv2526497,essv2560642,essv2545185,essv2549810,essv2571343,essv2546120,essv2551368,essv2536279,essv2538015,essv2549097,essv2532975,essv2554496,essv2547816,essv2524933,essv2557828 M 157 96 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11894,NA11920,NA11931,NA11993,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12234,NA12249,NA12287,NA12489,NA12717,NA12761,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18504,NA18505,NA18517,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18970,NA18973,NA18980,NA19102,NA19108,NA19114,NA19116,NA19172,NA19225,NA19238,NA19239,NA19257 esv274052 12 42004178 42004525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581706,essv2582289,essv2583103,essv2583937,essv2584646 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 esv1789107 12 42004207 42004207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785405 S 2 1 0 "" HuRef nsv819620 12 42102956 42103492 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418991 S 2 0 1 ADAMTS20 AK1 nsv513359 12 42204157 42204826 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625751 S 1 1 0 ADAMTS20 1 esv2645498 12 42204179 42204366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367090 S 1 1 0 ADAMTS20 NA18507 esv1641593 12 42204249 42204249 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260382 S 2 1 0 ADAMTS20 HuRef esv999593 12 42261196 42265837 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563863 S 3 0 1 "" HuRef esv2560193 12 42263082 42266524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338417 S 1 0 1 "" NA18507 esv2235208 12 42263524 42266018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992464 S 1 0 1 "" NA18507 nsv512272 12 42263616 42265835 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624848 S 1 0 1 "" 1 esv3074 12 42263635 42265953 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25515 S 1 0 1 Single Asian sample YH "" YH esv7070 12 42263726 42265808 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29511 S 1 0 1 "" SJK esv1694364 12 42263727 42265827 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996088 S 2 0 1 "" HuRef nsv52968 12 42263728 42265827 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71546 M 24 "" nsv523305 12 42275083 42280252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699045 S 2026 0 1 "" nsv518510 12 42369215 42391557 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694244 S 2026 1 0 "" esv270667 12 42425790 42426121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507992,essv2504171,essv2502973,essv2496436,essv2505230,essv2509527 M 157 6 0 Samples from several populations that are part of the HapMap project. PUS7L NA12003,NA18505,NA18507,NA18510,NA18853,NA19129 nsv899048 12 42495690 42594155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503913 S 6533 1 0 TMEM117 SP52130 esv269807 12 42547652 42547988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509089,essv2507263,essv2496969 M 157 3 0 Samples from several populations that are part of the HapMap project. TMEM117 NA18522,NA18870,NA19190 nsv526719 12 42584684 42602029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703059 S 2026 0 1 TMEM117 nsv832390 12 42604338 42798381 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449803 S 95 1 0 TMEM117 nsv832391 12 42680404 42838822 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449804 S 95 0 1 TMEM117 esv21749 12 42680679 42685481 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20512 S 451 1 0 TMEM117 NA12489 nsv522314 12 42757976 42773328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695094 S 2026 0 1 TMEM117 esv2581992 12 42773278 42774342 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385827 S 1 1 0 TMEM117 NA18507 esv269584 12 42773820 42774087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536400,essv2544161,essv2523302,essv2577639,essv2525302,essv2550497,essv2535318,essv2577919,essv2537266,essv2546645,essv2557171,essv2552584,essv2532213,essv2562658,essv2578650,essv2527262,essv2558983,essv2543523,essv2527788,essv2539413,essv2526635,essv2560789,essv2524093,essv2549792,essv2546142,essv2535969 M 157 26 0 Samples from several populations that are part of the HapMap project. TMEM117 NA06986,NA11920,NA11992,NA12004,NA12043,NA12156,NA12234,NA12249,NA12761,NA12878,NA12892,NA18501,NA18502,NA18505,NA18507,NA18510,NA18522,NA18638,NA18870,NA18907,NA18912,NA19114,NA19116,NA19129,NA19225,NA19239 esv273024 12 42773823 42774090 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582141,essv2582910,essv2584616 M 7 3 0 Samples from several populations that are part of the HapMap project. TMEM117 NA12878,NA12892,NA19239 nsv832393 12 42815673 42978681 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449805,nssv1449807 M 95 2 0 TMEM117 esv24558 12 42872784 42879544 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15173 S 451 0 1 TMEM117 NA19190 nsv686 12 42957507 42983177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9023 S 9 0 1 TMEM117 NA12156 esv269642 12 42960922 42961102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509810,essv2501119,essv2500591 M 157 3 0 Samples from several populations that are part of the HapMap project. TMEM117 NA18508,NA18516,NA18571 esv2599381 12 42977498 42979742 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210811 S 1 0 1 TMEM117 NA18507 esv26295 12 42978174 42979511 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19161 S 451 0 4 TMEM117 NA18858,NA18909,NA19108,NA19225 nsv520635 12 42993934 43007141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697530 S 2026 0 1 TMEM117 nsv826356 12 43011336 43069710 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441416 S 31 0 1 TMEM117 NA18969 esv2457498 12 43296505 43298021 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351510 S 1 0 1 NELL2 NA18507 esv1923023 12 43297259 43297969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904635 S 1 0 1 NELL2 NA18507 esv2604257 12 43350049 43351128 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199830 S 1 1 0 NELL2 NA18507 esv272578 12 43350597 43350819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580352,essv2580583,essv2579444 M 7 3 0 Samples from several populations that are part of the HapMap project. NELL2 NA12891,NA19238,NA19240 esv270896 12 43350606 43350941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536760,essv2545331,essv2523395,essv2577328,essv2570663,essv2576866,essv2525387,essv2554327,essv2552183,essv2553542,essv2559749,essv2565553,essv2564132,essv2561742,essv2528541,essv2557307,essv2557202,essv2551695,essv2562721,essv2544570,essv2562942,essv2523764,essv2524638,essv2539583,essv2529041,essv2567389,essv2572363,essv2559376,essv2541908,essv2543416,essv2572972,essv2530054,essv2525670,essv2526861,essv2575522,essv2560679,essv2574541,essv2546073,essv2574450,essv2535910,essv2547745 M 157 41 0 Samples from several populations that are part of the HapMap project. NELL2 NA06986,NA07347,NA11920,NA12003,NA12004,NA12043,NA12044,NA12154,NA12156,NA12287,NA12489,NA12763,NA12776,NA12812,NA12828,NA12874,NA12891,NA18499,NA18501,NA18504,NA18507,NA18526,NA18532,NA18537,NA18555,NA18563,NA18579,NA18582,NA18609,NA18638,NA18856,NA18870,NA18942,NA18949,NA18980,NA19005,NA19099,NA19116,NA19138,NA19239,NA19240 esv1571217 12 43350644 43350644 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304721 S 2 1 0 NELL2 HuRef nsv832394 12 43363840 43555572 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449808 S 95 0 1 NELL2 nsv526438 12 43394451 43394747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702741 S 2026 0 1 NELL2 nsv687 12 43402131 43409297 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9024 S 9 1 0 NELL2 NA12156 esv273700 12 43417356 43417700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580606,essv2579534 M 7 2 0 Samples from several populations that are part of the HapMap project. NELL2 NA19238,NA19240 esv267624 12 43417382 43417715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541017,essv2542533,essv2536391,essv2523462,essv2531866,essv2577256,essv2570672,essv2521892,essv2576723,essv2525359,essv2550446,essv2553983,essv2552288,essv2553687,essv2559621,essv2565397,essv2562120,essv2528517,essv2544707,essv2562995,essv2523931,essv2538431,essv2524531,essv2539833,essv2528682,essv2567484,essv2572232,essv2559153,essv2529893,essv2526827,essv2574766,essv2551639,essv2536159,essv2547991 M 157 34 0 Samples from several populations that are part of the HapMap project. NELL2 NA06986,NA07347,NA11831,NA11919,NA11920,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12156,NA12234,NA12287,NA12489,NA12763,NA12776,NA12812,NA12874,NA12891,NA18526,NA18532,NA18537,NA18547,NA18555,NA18563,NA18579,NA18582,NA18609,NA18638,NA18949,NA19005,NA19138,NA19257 esv1004421 12 43477931 43478021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583615 S 3 0 1 NELL2 HuRef dgv1420n71 12 43585469 43662320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899049,nsv899051 M 6533 0 2 NELL2 IS41319,MS26019 nsv899050 12 43585469 43686881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536424,nssv1546315 M 6533 0 2 NELL2 MS12780,MS17130 nsv527565 12 43606034 43652079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704026 S 2026 0 1 "" dgv198n27 12 43639634 43675084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469366,nsv469365 M 1557 0 2 "" 1780862470_A,HGDP00828 nsv469367 12 43649812 43686881 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544255 S 1557 0 1 "" NINDS_219 esv270692 12 43705784 43706123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514538,essv2517119,essv2518655,essv2514849,essv2515356,essv2518523,essv2514942,essv2516312,essv2515738,essv2517912,essv2515979,essv2514366,essv2517568,essv2515818,essv2517188,essv2519114,essv2513815,essv2518292,essv2519395,essv2513632 M 157 20 0 Samples from several populations that are part of the HapMap project. DBX2 NA07346,NA07347,NA11840,NA11931,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18969,NA18970,NA19141,NA19143,NA19240 esv273643 12 43705784 43706123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581315,essv2581063 M 7 2 0 Samples from several populations that are part of the HapMap project. DBX2 NA12878,NA19240 esv1002864 12 43705810 43705810 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579407 S 3 1 0 DBX2 HuRef esv1534356 12 43705822 43705822 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3682856 S 2 1 0 DBX2 HuRef esv2404363 12 43718513 43718955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818732 S 1 0 1 DBX2 NA18507 nsv689 12 43865788 43899500 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1079 S 9 1 0 ANO6,PLEKHA8P1 NA19240 nsv690 12 43960394 44005126 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9025 S 9 0 1 ANO6 NA12156 nsv826357 12 43977358 44027036 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441417 S 31 0 1 ANO6 NA18969 nsv832395 12 44128032 44325564 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449809,nssv1449810 M 95 0 2 "" nsv508672 12 44170997 44217358 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620048,nssv617399,nssv618893 M 4 0 3 "" CHM,NA10860,NA15510 nsv691 12 44182562 44232722 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5418,nssv1080,nssv9836,nssv6502 M 9 0 4 "" NA12156,NA18507,NA19129,NA19240 nsv436159 12 44187240 44196189 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466702 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv819497 12 44187249 44196059 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418556 S 2 1 0 "" AK1 nsv511498 12 44187853 44199129 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626116 S 1 0 1 "" 1 esv990558 12 44188762 44197410 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564393 S 3 0 1 "" HuRef esv2618852 12 44188798 44196987 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245260 S 1 0 1 "" NA18507 esv2496065 12 44189219 44194715 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295680 S 1 0 1 "" NA18507 nsv512273 12 44189277 44196252 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624849 S 1 0 1 "" 1 nsv821178 12 44189339 44196570 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421005 S 1 0 1 "" NA10851 nsv826358 12 44189339 44196570 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439915,nssv1436946 M 31 0 2 "" NA18537,NA18542 esv21866 12 44189409 44196263 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20337,esv12422,esv16116 M 451 10 9 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12776,NA18858,NA18909,NA18916,NA19108,NA19190,NA19225 nsv498790 12 44189420 44196207 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585651 S 9 0 1 "" esv2421868 12 44190705 44195804 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017083,essv5112051,essv5015800,essv5039988,essv5145375,essv5034326,essv5036620,essv5139513,essv5159543,essv5030348,essv5027235,essv5076169,essv5122659,essv5035821,essv5004094,essv5030623,essv5069764,essv5091091,essv5062556,essv5100111,essv5130550,essv5076865,essv5070641,essv5106122,essv5020417,essv5012401,essv5051111,essv5018152,essv5010433,essv5057567,essv5025249,essv5078799,essv5127437,essv5133670,essv5110220,essv5154368,essv5069403,essv5053924,essv5145441,essv5039347,essv5096115,essv5128698,essv5063830,essv5101109,essv5111810,essv5121843,essv5019832,essv5008155,essv5045607,essv5012559,essv5006753,essv5124005,essv5033400,essv5066070,essv5126398,essv5025659,essv5006174,essv5089372,essv5132242,essv5066151,essv5160320,essv5083379,essv5128234,essv5069620,essv5028761,essv5116081,essv5101708,essv5013544,essv5153477,essv5130754,essv5041626,essv5108751,essv5045245,essv5086233,essv5094721,essv5041117,essv5061466,essv5084510,essv5058293,essv5056228,essv5063641,essv5123910,essv5022811,essv5083804,essv5033797,essv5021223,essv5025612,essv5010359,essv5048211,essv5152313,essv5007400,essv5099029,essv5131895,essv5145240,essv5070876,essv5064522,essv5006682,essv5125933,essv5106490,essv5139871,essv5118735,essv5123186,essv5147120,essv5151840,essv5046777,essv5141000,essv5002361,essv5101881,essv5081908,essv5050688,essv5053823,essv5138498,essv5015316,essv5071035,essv5016887,essv5102736,essv5118976,essv5054799,essv5150275,essv5091973,essv5074841,essv5060957,essv5028343,essv5086642,essv5124544,essv5100293,essv5086705,essv5034749,essv5132805,essv5077069,essv5131756,essv5098314,essv5094900,essv5094055,essv5145404,essv5032363,essv5145512,essv5052427,essv5097545,essv5036973,essv5066857,essv5054109,essv5101613,essv5134752,essv5017922,essv5127664,essv5096913,essv5153635,essv5106638,essv5057006,essv5002856,essv5149343,essv5143661,essv5016649,essv5022946,essv5019043,essv5054858,essv5004119,essv5088450,essv5024629,essv5023542,essv5133646,essv5096100,essv5154850,essv5052067,essv5016428,essv5072325,essv5073878,essv5030059,essv5064082,essv5060451,essv5134825,essv5067418,essv5053474,essv5083292,essv5004996,essv5104511,essv5084417,essv5050022,essv5141018,essv5047455,essv5108223,essv5063114,essv5144203,essv5059938,essv5005948,essv5119292,essv5116797,essv5022371,essv5151070,essv5126997,essv5114273,essv5096289,essv5124781,essv5062442,essv5012925,essv5004716,essv5151312,essv5142386,essv5108980,essv5120967,essv5157562,essv5051304,essv5099668,essv5120471,essv5131350,essv5042650,essv5141007,essv5009969,essv5007176,essv5108020,essv5038423,essv5076539,essv5104914,essv5029552,essv5093989,essv5115730,essv5042054,essv5128669,essv5055622,essv5019015,essv5097832,essv5049933,essv5005437,essv5107240,essv5061507,essv5057989,essv5101402,essv5124116,essv5047570,essv5126531,essv5037732,essv5032310,essv5142691,essv5003929,essv5118614,essv5030564,essv5012666,essv5106577,essv5063339,essv5023888,essv5144109,essv5139399,essv5088148,essv5110855,essv5024943,essv5093915,essv5095170,essv5003081,essv5107053,essv5087200,essv5160505,essv5116603,essv5102198,essv5032468,essv5093946,essv5083714,essv5031357,essv5080348,essv5111532,essv5097480,essv5159727,essv5133047,essv5028608,essv5038069,essv5140314,essv5148883,essv5025786,essv5057833,essv5035465,essv5032432,essv5018259,essv5116220,essv5126313,essv5114776,essv5086138,essv5134122,essv5096994,essv5009870,essv5160346,essv5126240,essv5061502,essv5099572,essv5104407,essv5022569,essv5113825,essv5019072,essv5019593,essv5123110,essv5058955,essv5045404,essv5094977,essv5123836,essv5009279,essv5044493,essv5072807,essv5030512,essv5149499,essv5049784,essv5103331,essv5035621,essv5012574,essv5096993,essv5064851,essv5054371,essv5160801,essv5157973,essv5103629,essv5112783,essv5146296,essv5052159,essv5131502,essv5059301,essv5116707,essv5082555,essv5022887,essv5061370,essv5072464,essv5114854,essv5074649,essv5075338,essv5030491,essv5145127,essv5025681,essv5084812,essv5078632,essv5158701,essv5090200,essv5044817,essv5028672,essv5009877,essv5140249,essv5020116,essv5053232,essv5068395,essv5135894,essv5016978,essv5039595,essv5140381,essv5127570,essv5140689,essv5050479,essv5062187,essv5138448,essv5029087,essv5062700,essv5036088,essv5021402,essv5086514,essv5066674,essv5031901,essv5061589,essv5067569,essv5071442,essv5108818,essv5102568,essv5037301,essv5086201,essv5091070,essv5118272,essv5062858,essv5113043,essv5138482,essv5126257,essv5067360,essv5069952,essv5023252,essv5004969,essv5153812,essv5018034,essv5128302,essv5151251,essv5144555,essv5139424,essv5072271,essv5127905,essv5014407,essv5075454,essv5096510,essv5082284,essv5151003,essv5060660,essv5041395,essv5088048,essv5106005,essv5111055,essv5076296,essv5020000,essv5136830,essv5159117,essv5109322,essv5103042,essv5049792,essv5069160,essv5058881,essv5096261,essv5150539,essv5043436,essv5124227,essv5031098,essv5064040,essv5069863,essv5043696,essv5022771,essv5153761,essv5140908,essv5065976,essv5019281,essv5056804,essv5159921,essv5097974,essv5135861,essv5093698,essv5042189,essv5024626,essv5045614,essv5081047,essv5160150,essv5146878,essv5069510,essv5087805,essv5101909,essv5081474,essv5068216,essv5067655,essv5025221,essv5002025,essv5155082,essv5155369,essv5009044,essv5110624,essv5015917,essv5085052,essv5154883,essv5057223,essv5158710,essv5112994,essv5056930,essv5070372,essv5048927,essv5062365,essv5100246,essv5142056,essv5159311,essv5140418,essv5140846,essv5132410,essv5006774,essv5150248,essv5116024,essv5153146,essv5017698,essv5114287,essv5119722,essv5085187,essv5113120,essv5120371,essv5047210,essv5080236,essv5159744,essv5022857,essv5031279,essv5108997,essv5026302,essv5084020,essv5159890,essv5051673,essv5077938,essv5081259,essv5098110,essv5035570,essv5060858,essv5044716,essv5125175,essv5050274,essv5048134,essv5084458,essv5056304,essv5049184,essv5023484,essv5125783,essv5092975,essv5073568,essv5066549,essv5158563,essv5045940,essv5133941,essv5078433,essv5011418,essv5132073,essv5020896,essv5136540,essv5144073,essv5064231,essv5133838,essv5126718,essv5013199,essv5160711,essv5027399,essv5023265,essv5076391,essv5073343,essv5019481,essv5046607,essv5137540,essv5111546,essv5051321,essv5041675,essv5145445,essv5056923,essv5118276,essv5075358,essv5159785,essv5128686,essv5136679,essv5093882,essv5121100,essv5018764,essv5031017,essv5054224,essv5145423,essv5072814,essv5006543,essv5022793,essv5061200,essv5031346,essv5160366,essv5022417,essv5022065,essv5155027,essv5024309,essv5109313,essv5048678,essv5105989,essv5089458,essv5099760,essv5016763,essv5007079,essv5017915,essv5109758,essv5084832,essv5072519,essv5053268,essv5107775,essv5022422,essv5125550,essv5095853,essv5030295,essv5061808,essv5050652,essv5095901,essv5057159,essv5072187,essv5145313,essv5016390,essv5112913,essv5037131,essv5058900,essv5091704,essv5075874,essv5118622,essv5041918,essv5129278,essv5141756,essv5147444,essv5052861,essv5025853,essv5140413,essv5031615,essv5100154,essv5093484,essv5034296,essv5022468,essv5029142,essv5040041,essv5155267,essv5094579,essv5018553,essv5022286,essv5078205,essv5031155,essv5155944,essv5014554,essv5156014,essv5050320,essv5073320,essv5016905,essv5042728,essv5013279,essv5067313,essv5057059,essv5114970,essv5139147,essv5145411,essv5092375,essv5092171,essv5129932,essv5027651,essv5132606,essv5065523,essv5103937,essv5034361,essv5090159,essv5026926,essv5030661,essv5112945,essv5019419,essv5017220,essv5018127,essv5128733,essv5058661,essv5128202,essv5158482,essv5120178,essv5003604,essv5005332,essv5045569,essv5123604 M 1184 0 618 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10856,NA10863,NA10864,NA10865,NA11829,NA11830,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12286,NA12335,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12376,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12767,NA12775,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12872,NA12875,NA12877,NA12878,NA12890,NA12891,NA18108,NA18484,NA18486,NA18488,NA18497,NA18498,NA18501,NA18503,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18537,NA18542,NA18638,NA18853,NA18859,NA18860,NA18861,NA18863,NA18868,NA18869,NA18870,NA18873,NA18874,NA18875,NA18910,NA18912,NA18914,NA18916,NA18917,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA19027,NA19031,NA19036,NA19041,NA19044,NA19093,NA19096,NA19099,NA19101,NA19102,NA19103,NA19107,NA19113,NA19114,NA19115,NA19116,NA19120,NA19121,NA19127,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19143,NA19147,NA19148,NA19150,NA19151,NA19152,NA19154,NA19159,NA19171,NA19172,NA19173,NA19176,NA19178,NA19179,NA19180,NA19181,NA19189,NA19191,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19206,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19224,NA19226,NA19236,NA19237,NA19239,NA19240,NA19248,NA19256,NA19257,NA19258,NA19307,NA19308,NA19310,NA19313,NA19315,NA19316,NA19318,NA19319,NA19324,NA19327,NA19332,NA19334,NA19346,NA19352,NA19372,NA19373,NA19375,NA19376,NA19379,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19430,NA19431,NA19435,NA19436,NA19438,NA19439,NA19443,NA19445,NA19446,NA19449,NA19451,NA19452,NA19456,NA19457,NA19463,NA19466,NA19468,NA19472,NA19474,NA19625,NA19650,NA19654,NA19656,NA19669,NA19670,NA19671,NA19676,NA19677,NA19678,NA19679,NA19682,NA19684,NA19700,NA19702,NA19703,NA19704,NA19705,NA19712,NA19720,NA19721,NA19725,NA19726,NA19727,NA19746,NA19750,NA19751,NA19755,NA19762,NA19770,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19781,NA19788,NA19790,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19982,NA19983,NA20126,NA20277,NA20279,NA20281,NA20284,NA20289,NA20290,NA20294,NA20295,NA20297,NA20300,NA20302,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20337,NA20340,NA20341,NA20343,NA20344,NA20346,NA20347,NA20348,NA20349,NA20350,NA20357,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20508,NA20509,NA20510,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20589,NA20752,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20766,NA20768,NA20769,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20797,NA20801,NA20802,NA20805,NA20807,NA20808,NA20815,NA20816,NA20819,NA20826,NA20828,NA20846,NA20849,NA20850,NA20852,NA20853,NA20854,NA20861,NA20862,NA20873,NA20882,NA20887,NA20889,NA20896,NA20901,NA20902,NA20904,NA20910,NA21088,NA21089,NA21105,NA21107,NA21113,NA21119,NA21123,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21363,NA21365,NA21366,NA21367,NA21368,NA21370,NA21378,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21400,NA21403,NA21404,NA21408,NA21417,NA21418,NA21420,NA21421,NA21424,NA21434,NA21436,NA21440,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21491,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21574,NA21580,NA21582,NA21583,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21635,NA21647,NA21648,NA21678,NA21682,NA21683,NA21685,NA21686,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21741,NA21768,NA21776,NA21784,NA21826 nsv442647 12 44192107 44195804 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514671 12 44193968 44194804 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628150 S 1414 0 1 "" esv2751099 12 44246385 44329900 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988458,essv6985679,essv6981847 M 771 1 0 "" BEC_493 nsv826359 12 44253395 44253860 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433912 S 31 0 1 "" NA18526 esv2475579 12 44332259 44333335 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389783 S 1 1 0 "" NA18507 nsv899052 12 44354661 44461736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575413 S 6533 0 1 ARID2,LOC400027 IS33738 esv32607 12 44373697 44383494 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95012,essv99501 M 51 2 0 "" 22231,22335 nsv899053 12 44386320 44427639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514704 S 6533 0 1 ARID2,LOC400027 SP56047 dgv508e1 12 44435605 44636158 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12413,esv377 M 271 0 0 ARID2,SCAF11 NA19238 nsv832396 12 44441691 44596850 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449811 S 95 0 1 ARID2 esv2516965 12 44461261 44461648 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251140 S 1 1 0 ARID2 NA18507 esv268062 12 44461405 44461490 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516681,essv2517408,essv2514165,essv2514795,essv2515376,essv2518576,essv2515090,essv2516349,essv2515717,essv2518139,essv2514473,essv2517740,essv2519005,essv2513945,essv2518302,essv2519444 M 157 16 0 Samples from several populations that are part of the HapMap project. ARID2 NA07346,NA11881,NA11918,NA12043,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA19141,NA19143,NA19240 esv273302 12 44461405 44461490 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581452,essv2581084 M 7 2 0 Samples from several populations that are part of the HapMap project. ARID2 NA12878,NA19240 nsv832397 12 44552257 44740000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449812 S 95 0 1 ARID2,SCAF11 esv8720 12 44659031 44659235 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31161 S 1 0 0 SCAF11 SJK esv23609 12 44759262 44761903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13728 S 451 0 1 "" NA18909 nsv826360 12 44801641 44884510 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441419 S 31 0 1 SLC38A1 NA18969 esv1018358 12 44836012 44836012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332332 S 2 1 0 "" HuRef nsv832398 12 44897959 45111797 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449813 S 95 1 0 SLC38A1,SLC38A2 esv26431 12 44917481 44918327 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20141 S 451 0 2 SLC38A1 NA18502,NA19240 esv272862 12 44934300 44934609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580366,essv2578910,essv2579766 M 7 3 0 Samples from several populations that are part of the HapMap project. SLC38A1 NA12891,NA19239,NA19240 nsv521192 12 44995518 45007086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694423 S 2026 0 1 "" nsv692 12 45304739 45335762 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1082,nssv1995,nssv5419 M 9 0 3 "" NA18555,NA19129,NA19240 esv26818 12 45314664 45319594 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19977 S 451 0 9 "" NA18502,NA18511,NA18517,NA18858,NA18861,NA19129,NA19147,NA19225,NA19240 nsv498791 12 45314843 45319576 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585652 S 9 0 1 "" esv2502131 12 45361091 45362754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236734 S 1 0 1 "" NA18507 esv1001621 12 45361232 45362078 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565230 S 3 0 1 "" HuRef esv2003002 12 45361431 45362167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907717 S 1 0 1 "" NA18507 esv3634 12 45361563 45362071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26075 S 1 0 1 Single Asian sample YH "" YH dgv26n6 12 45361618 45361981 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv53621,nsv52523 M 24 "" esv993721 12 45361623 45361970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583352 S 3 0 1 "" HuRef esv9676 12 45361624 45361961 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32117 S 1 0 1 "" SJK esv2617964 12 45361626 45361973 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284538 S 1 0 1 "" NA18507 esv1295651 12 45361633 45361981 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681294 S 2 0 1 "" HuRef nsv826361 12 45445812 45487161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441420 S 31 0 1 SLC38A4 NA18969 esv2607065 12 45484327 45485911 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212753 S 1 0 1 SLC38A4 NA18507 nsv435639 12 45485420 45489282 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466703 S 2 0 1 SLC38A4 NA15510 nsv899054 12 45510592 45566346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503700 S 6533 0 1 "" SP52094 nsv693 12 45536405 45566786 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10862 S 9 1 0 "" NA18956 esv999156 12 45576442 45596547 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563785 S 3 0 0 "" HuRef esv2471085 12 45659401 45660056 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173722 S 1 1 0 "" NA18507 nsv694 12 45746983 45759649 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6503 S 9 0 1 AMIGO2 NA12156 esv2505673 12 45776418 45777532 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361491 S 1 1 0 "" NA18507 nsv832399 12 45789177 45975868 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449814 S 95 1 0 FAM113B,LOC100233209,MIR4698 esv2421679 12 45813866 45815112 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104246,essv5108192,essv5104299,essv5085491,essv5003364,essv5125211,essv5008275,essv5024354,essv5023593,essv5006162,essv5147032,essv5148010,essv5081435,essv5060947,essv5157749,essv5143963,essv5077348,essv5079893,essv5106190,essv5131908,essv5070488,essv5037350,essv5016122,essv5116582,essv5017117,essv5042675,essv5015923,essv5010015,essv5006760,essv5141683,essv5031907,essv5073357,essv5127217,essv5048184,essv5099325,essv5114175,essv5156539,essv5103931,essv5097052,essv5130701,essv5140244,essv5112396,essv5022254,essv5074491,essv5043440,essv5066615,essv5148014,essv5036056,essv5154964,essv5067912,essv5095442,essv5121735,essv5080008,essv5067387,essv5152763,essv5146791,essv5010375,essv5151594,essv5058134,essv5094126,essv5080996,essv5071496,essv5073589,essv5045695,essv5038194,essv5148347,essv5008240,essv5020094,essv5138620,essv5117306,essv5045853,essv5066443,essv5072823,essv5114091,essv5025315,essv5123823,essv5076072,essv5031351,essv5002319,essv5003482,essv5146494,essv5141128,essv5066206,essv5092848,essv5104104,essv5105851,essv5072312,essv5096195,essv5034860,essv5118302,essv5067564,essv5106091,essv5093635,essv5111010,essv5017597,essv5160949,essv5076994,essv5052818,essv5024361,essv5085429,essv5053600,essv5078342,essv5137549,essv5106052,essv5011044,essv5076781,essv5113750,essv5091552,essv5098903,essv5116030,essv5055466 M 1184 111 0 "" NA06984,NA07000,NA10837,NA11992,NA11994,NA12273,NA12386,NA12399,NA12546,NA12890,NA17962,NA17976,NA17981,NA17986,NA17987,NA18487,NA18497,NA18499,NA18506,NA18508,NA18534,NA18555,NA18557,NA18593,NA18609,NA18638,NA18641,NA18749,NA18923,NA18925,NA18976,NA19101,NA19103,NA19119,NA19120,NA19127,NA19129,NA19144,NA19179,NA19184,NA19186,NA19206,NA19226,NA19235,NA19239,NA19248,NA19249,NA19309,NA19375,NA19376,NA19383,NA19434,NA19439,NA19444,NA19451,NA19457,NA19468,NA19469,NA19474,NA19651,NA19701,NA19702,NA19712,NA19723,NA19770,NA19772,NA19779,NA19796,NA19835,NA19836,NA19916,NA19917,NA20287,NA20290,NA20297,NA20332,NA20346,NA20786,NA20810,NA20819,NA20873,NA20907,NA20908,NA21106,NA21301,NA21308,NA21309,NA21344,NA21353,NA21363,NA21366,NA21378,NA21379,NA21408,NA21415,NA21448,NA21453,NA21454,NA21455,NA21473,NA21478,NA21486,NA21487,NA21488,NA21493,NA21494,NA21510,NA21517,NA21614,NA21719,NA21768 esv2751100 12 45827657 46032424 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982220,essv6982219,essv6989592,essv6982221 M 771 0 1 FAM113B,LOC100233209,MIR4698 BEC_404 nsv527663 12 45963217 45965615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704136 S 2026 0 1 "" esv2535011 12 45967262 45968743 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273914 S 1 0 1 "" NA18507 nsv522275 12 45994103 46004450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695055 S 2026 0 1 "" esv269736 12 46016929 46017014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519356 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 esv1621203 12 46016959 46016959 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627682 S 2 1 0 "" HuRef esv274311 12 46020281 46020549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580426 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv274635 12 46040767 46041244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580064 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv832400 12 46126515 46310872 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449815 S 95 1 0 "" nsv522914 12 46133227 46153777 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698575 S 2026 0 1 "" nsv899055 12 46227031 46256960 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578586 S 6533 1 0 "" IS34807 dgv1421n71 12 46227031 46298657 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899056,nsv899057 M 6533 2 0 "" MS23120,MS25703 esv2751101 12 46227125 46413152 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987667,essv6984742,essv6984743,essv6984744,essv6987668 M 771 1 0 ENDOU,RPAP3 SPC_173 nsv527728 12 46240864 46330773 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704210 S 2026 1 0 "" nsv899058 12 46298657 46368749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583490 S 6533 1 0 RPAP3 IS36517 nsv53705 12 46312920 46312920 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72283 M 24 "" esv1597905 12 46313009 46313009 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323447 S 2 1 0 "" HuRef esv1577538 12 46313169 46313169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814080 S 2 1 0 "" HuRef esv1541905 12 46314596 46314660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729291 S 2 0 1 "" HuRef nsv695 12 46329528 46374488 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9026 S 9 0 1 RPAP3 NA12156 nsv521329 12 46330278 46337723 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697936 S 2026 1 0 "" nsv518487 12 46337723 46344058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695927 S 2026 0 1 RPAP3 nsv517899 12 46367806 46368749 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695308 S 2026 1 0 RPAP3 nsv470289 12 46396818 46466775 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546940 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ENDOU,HDAC7,RAPGEF3,SLC48A1 HGDP00682 nsv696 12 46400230 46434803 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4022 S 9 1 0 ENDOU,RAPGEF3 NA12878 dgv94n21 12 46405829 46501447 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527470,nsv524967 M 2026 0 2 HDAC7,RAPGEF3,SLC48A1 nsv899059 12 46415611 46501447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543623 S 6533 0 1 HDAC7,RAPGEF3,SLC48A1 MS16153 nsv518315 12 46436019 46439262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695746 S 2026 0 1 RAPGEF3 esv259945 12 46439888 46440180 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394988,essv2394661,essv2398380,essv2395225,essv2396427 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18870,NA19093,NA19108,NA19138 esv992754 12 46439972 46439972 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574966 S 3 1 0 "" HuRef nsv899060 12 46466775 46517697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592286,nssv1549840 M 6533 0 2 HDAC7 IS39233,MS18276 esv999028 12 46485568 46495399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565252 S 3 0 1 HDAC7 HuRef esv8233 12 46536736 46536834 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30674 S 1 1 0 VDR SJK esv271744 12 46598720 46599058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516686,essv2517388,essv2517021,essv2514142,essv2518526,essv2515681,essv2517981 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11918,NA11931,NA12043,NA12287,NA12815,NA12872 esv259578 12 46620795 46621382 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394157 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv260075 12 46620846 46621462 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400190,essv2397537,essv2394460,essv2396688,essv2397306,essv2400593,essv2397381 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11992,NA12045,NA12750,NA12878,NA18576,NA18980 esv21638 12 46620921 46621416 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13465 S 451 1 0 "" NA11995 nsv832401 12 46633720 46764266 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449816 S 95 0 1 COL2A1,SENP1,TMEM106C nsv519174 12 46646251 46651532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696657 S 2026 0 1 TMEM106C nsv899061 12 46646887 46675290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500080 S 6533 0 1 COL2A1,TMEM106C SP50159 nsv525456 12 46652716 46663236 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701584 S 2026 1 0 COL2A1 nsv519659 12 46652716 46675512 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696977 S 2026 0 1 COL2A1 dgv509e1 12 46715969 47111766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5418,esv516 M 271 0 0 ASB8,C12orf68,H1FNT,OR10AD1,PFKM,SENP1,ZNF641 NA18563 nsv508673 12 46776053 46853405 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617400 S 4 0 1 ASB8,PFKM,SENP1 CHM nsv8971 12 46822793 47044768 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20523,nssv21547,nssv18520,nssv18731,nssv21047,nssv21548,nssv20764 M 31 1 6 Samples from several populations that are part of the HapMap project. ASB8,C12orf68,H1FNT,OR10AD1,PFKM,ZNF641 NA07048,NA10839,NA11830,NA12155,NA12802,NA12872,NA18563 esv34439 12 46828024 47065829 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979487,essv6979488,essv6979489,essv6979490 M 771 1 0 ASB8,C12orf68,H1FNT,OR10AD1,ZNF641 NA18563 dgv510e1 12 46833395 47111766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6199,essv4088 M 271 0 0 ASB8,C12orf68,H1FNT,OR10AD1,ZNF641 NA18563,NA18635 esv33956 12 46851910 46931828 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97516 S 51 0 1 C12orf68,OR10AD1 21616 nsv518743 12 46883774 46886787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694269 S 2026 0 1 "" esv272283 12 46902179 46902264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581276 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv1422n71 12 46944479 47008099 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899066,nsv899062,nsv899065,nsv899063,nsv899064 M 6533 0 14 "" MS18979,SP50099,SP50528,SP50694,SP52137,SP52655,SP53147,SP53342,SP54650,SP56022,SP56347,SP81085,SP81432,SP81562 essv7243 12 46958573 46989789 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18635 esv34952 12 46958600 46989800 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979818,essv6988250 M 771 0 1 "" NA18635 dgv199n27 12 46962050 46998134 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469372,nsv469369,nsv469370 M 1557 0 3 "" HGDP01096,HGDP01099,HGDP01184 nsv470290 12 46962050 46998134 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546941 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01184 nsv832402 12 46973028 47137287 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449818 S 95 1 0 H1FNT,ZNF641 nsv826362 12 46979315 47055120 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439202 S 31 1 0 H1FNT,ZNF641 NA18973 esv1010928 12 46992753 46997821 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563731 S 3 0 1 "" HuRef esv28609 12 46994547 46997300 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20323,esv17416 M 451 0 9 "" NA06985,NA07045,NA11993,NA11995,NA12006,NA12156,NA12749,NA12828,NA12878 esv994792 12 46994793 46996969 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587155 S 3 0 1 "" HuRef nsv53338 12 46994841 46996951 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71916 M 24 "" esv1006828 12 46996012 46996927 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586533 S 3 0 1 "" HuRef nsv437752 12 47008099 47027486 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467633 S 60 0 1 Samples from several populations that are part of the HapMap project. H1FNT,ZNF641 NA18506 nsv438208 12 47011045 47020876 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470440,nssv470442 M 269 0 2 Samples from several populations that are part of the HapMap project. ZNF641 NA18506,NA18508 esv1008169 12 47011408 47019184 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565445 S 3 0 1 "" HuRef nsv513360 12 47133721 47134113 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625752 S 1 1 0 "" 1 nsv510295 12 47170857 47176857 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621383,nssv624117 M 4 0 2 C12orf54 NA15510,NA18994 esv1645435 12 47180638 47180638 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271613 S 2 1 0 "" HuRef nsv697 12 47183738 47218732 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1083 S 9 1 0 OR8S1 NA19240 nsv438209 12 47345081 47357512 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470443,nssv470444 M 269 0 2 Samples from several populations that are part of the HapMap project. C12orf41,SNORA2B NA18506,NA18507 nsv519053 12 47351994 47365737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696524 S 2026 0 1 C12orf41 nsv826363 12 47463494 47537256 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439203 S 31 1 0 ADCY6,CACNB3,DDX23,RND1 NA18973 nsv698 12 47475198 47508846 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5420 S 9 1 0 CACNB3 NA19129 nsv469373 12 47543059 47571657 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544260 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RND1 HGDP00721 nsv832404 12 47544827 47744822 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449821,nssv1449820,nssv1449819,nssv1449822 M 95 4 0 ARF3,CCDC65,DDN,FKBP11,MLL2,PRKAG1,RHEBL1,RND1,WNT1,WNT10B nsv899067 12 47615962 47630775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502638 S 6533 0 1 ARF3 SP51307 nsv820277 12 47677750 47678481 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419074 S 2 1 0 DDN AK1 nsv700 12 47699585 47730192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10863 S 9 1 0 MLL2 NA18956 nsv826366 12 47730925 47732144 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430079 S 31 1 0 MLL2 AK14 nsv819798 12 47746494 47749854 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419530 S 2 0 1 RHEBL1 AK1 esv1344521 12 47756280 47756760 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589974 S 2 0 1 "" HuRef nsv518041 12 47904310 47931507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695453 S 2026 0 1 "" nsv701 12 47906901 47931299 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2883 S 9 1 0 "" NA18555 nsv507642 12 47939951 47945951 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619071,nssv623108 M 4 2 0 TUBA1C NA10860,NA18994 nsv509466 12 47946904 47946904 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620967 S 4 1 0 TUBA1C NA15510 esv25113 12 47962269 47976666 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19135 S 451 1 0 PRPH NA07045 nsv826367 12 47972760 47977976 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433120 S 31 1 0 PRPH NA18972 dgv1423n71 12 48000370 48210904 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899068,nsv899069 M 6533 0 3 C1QL4,DNAJC22,LOC100335030,SPATS2,TROAP IS31179,IS33605,IS40368 nsv832405 12 48006546 48197129 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449823 S 95 1 0 C1QL4,DNAJC22,LOC100335030,SPATS2,TROAP nsv826368 12 48012577 48018069 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433121 S 31 1 0 C1QL4 NA18972 nsv899070 12 48097578 48227767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574294 S 6533 0 1 KCNH3,SPATS2 IS33533 esv1526240 12 48116569 48116650 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601341 S 2 0 1 SPATS2 HuRef nsv832406 12 48146960 48348403 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449824 S 95 0 1 FAM186B,FMNL3,KCNH3,MCRS1,PRPF40B,SPATS2 nsv518746 12 48157231 48210904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696195 S 2026 0 1 SPATS2 nsv899071 12 48213415 48242202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510043 S 6533 0 1 KCNH3,MCRS1 SP54956 esv2638901 12 48291528 48292073 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228384 S 1 1 0 "" NA18507 esv1587002 12 48291756 48291756 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909491 S 2 1 0 "" HuRef esv25495 12 48383566 48384465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14748 S 451 0 1 FMNL3 NA19147 nsv522972 12 48482661 48697098 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698642 S 2026 1 0 AQP2,AQP5,AQP6,BCDIN3D,FAIM2,LOC100286844,LOC283332,NCKAP5L,RACGAP1 nsv832407 12 48529535 48698503 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449825 S 95 0 1 AQP2,AQP5,AQP6,FAIM2,LOC283332,RACGAP1 esv259454 12 48557459 48557770 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394095,essv2393962,essv2393822,essv2393729,essv2394049,essv2394372 M 6 0 0 Samples from several populations that are part of the HapMap project. FAIM2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259829 12 48557463 48557779 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394787,essv2399014,essv2400315,essv2398459,essv2395294,essv2400916,essv2398883,essv2397582,essv2399981,essv2399366,essv2398667,essv2395412,essv2399196,essv2399730,essv2397274,essv2401088,essv2396962,essv2395578,essv2397632,essv2397781,essv2396582,essv2400657,essv2396501,essv2396117,essv2395702,essv2400715,essv2394934,essv2400934,essv2395045,essv2398867,essv2400431,essv2400130,essv2394707,essv2395311,essv2395857,essv2397503,essv2395461,essv2398142,essv2397129,essv2400793,essv2397773,essv2394593,essv2396975,essv2398339,essv2401010,essv2395142,essv2394862,essv2399806,essv2399499,essv2396388,essv2398003,essv2399688,essv2395941,essv2397096,essv2400460,essv2394507 M 144 0 0 Samples from several populations that are part of the HapMap project. FAIM2 NA07357,NA10851,NA11881,NA11894,NA11918,NA11993,NA11995,NA12044,NA12156,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18507,NA18510,NA18517,NA18523,NA18532,NA18542,NA18545,NA18547,NA18571,NA18582,NA18592,NA18861,NA18870,NA18916,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18965,NA18973,NA19093,NA19099,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19210,NA19238,NA19239,NA19240,NA19257 esv8771 12 48557479 48557577 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31212 S 1 1 0 FAIM2 SJK esv9408 12 48557663 48557735 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31849 S 1 1 0 FAIM2 SJK esv2568002 12 48557670 48560086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334582 S 1 0 1 FAIM2 NA18507 esv9667 12 48558850 48559382 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32108 S 1 0 1 FAIM2 SJK esv2624094 12 48560552 48560771 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361907 S 1 0 1 FAIM2 NA18507 nsv525920 12 48571328 48591216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702124 S 2026 0 1 FAIM2,LOC283332 esv259988 12 48578194 48578506 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394751,essv2400899,essv2398874,essv2397569,essv2395589,essv2397691,essv2397836,essv2396567,essv2394961,essv2397463,essv2400965,essv2398835,essv2399494,essv2400128,essv2394688,essv2395324,essv2394424,essv2397471,essv2395466,essv2398189,essv2397762,essv2398315,essv2401025,essv2395157,essv2396412,essv2397243,essv2394486 M 144 0 0 Samples from several populations that are part of the HapMap project. FAIM2 NA07357,NA11993,NA11995,NA12044,NA18501,NA18502,NA18505,NA18507,NA18511,NA18520,NA18547,NA18582,NA18858,NA18861,NA18870,NA18916,NA18943,NA18947,NA18948,NA18949,NA18956,NA19093,NA19099,NA19108,NA19138,NA19225,NA19257 nsv899072 12 48612443 48665934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530755 S 6533 0 1 AQP2,AQP5,AQP6 MS10311 nsv899073 12 48621895 48646728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510044 S 6533 0 1 AQP2,AQP5 SP54956 nsv899074 12 48631243 48646728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507476 S 6533 0 1 AQP2,AQP5 SP54672 nsv523899 12 48640704 48652567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699742 S 2026 0 1 AQP5 esv27744 12 48641467 48642245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16085 S 451 0 1 AQP5 NA07045 esv271791 12 48687681 48689015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513967 S 157 1 0 Samples from several populations that are part of the HapMap project. RACGAP1 NA19143 esv1766563 12 48689076 48689076 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869519 S 2 1 0 RACGAP1 HuRef esv1010880 12 48699150 48702019 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565630 S 3 1 0 RACGAP1 HuRef nsv437753 12 48740624 48748405 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467634 S 60 0 1 Samples from several populations that are part of the HapMap project. ACCN2 NA19208 nsv53354 12 48855107 48855413 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71932 M 24 "" nsv899075 12 48881214 49121327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568613 S 6533 1 0 FAM186A,LARP4,LIMA1,MIR1293 IS31317 esv267880 12 48892641 48892965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514226 S 157 1 0 Samples from several populations that are part of the HapMap project. LIMA1 NA12874 nsv702 12 48957137 49002201 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9027 S 9 0 1 LIMA1 NA12156 esv1583460 12 49032364 49032436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779338 S 2 0 1 FAM186A HuRef esv260072 12 49055191 49070465 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395430 S 144 0 0 Samples from several populations that are part of the HapMap project. FAM186A NA18948 nsv899076 12 49056558 49155856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595937 S 6533 0 1 FAM186A,LARP4 IS40368 nsv469376 12 49079113 49142880 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544261 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LARP4 HGDP00915 nsv470291 12 49079113 49145087 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546942 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LARP4 HGDP00866 esv1512829 12 49259681 49259745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905202 S 2 0 1 DIP2B HuRef esv27734 12 49259941 49261813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19805 S 451 0 4 DIP2B NA12776,NA18502,NA19147,NA19190 esv3400 12 49259944 49261881 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25841 S 1 0 1 Single Asian sample YH DIP2B YH dgv289n67 12 49259947 49261767 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826369,nsv826372,nsv826371,nsv826370 M 31 0 27 DIP2B AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv9262 12 49260020 49261767 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31703 S 1 0 1 DIP2B SJK nsv899077 12 49446879 49474664 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504969 S 6533 0 1 ATF1 SP52925 nsv899078 12 49499700 49573017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576179 S 6533 0 1 ATF1,TMPRSS12 IS33894 esv24738 12 49502991 49504604 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15451 S 451 0 1 "" NA12749 esv1433992 12 49552933 49552933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282126 S 2 1 0 TMPRSS12 HuRef esv34039 12 49612969 49958178 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CSRNP2,DAZAP2,HIGD1C,LETMD1,POU6F1,SLC11A2,SMAGP,TFCP2 nsv703 12 49793477 49827966 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1084 S 9 1 0 TFCP2 NA19240 esv1132126 12 49858478 49858478 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820082 S 2 1 0 "" HuRef esv2239902 12 49876993 49877375 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602658 S 1 0 1 POU6F1 NA18507 esv1696566 12 49877185 49877185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330133 S 2 1 0 POU6F1 HuRef nsv704 12 49896307 49930454 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4023 S 9 1 0 DAZAP2,POU6F1,SMAGP NA12878 esv273161 12 49927089 49927335 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584603,essv2583427 M 7 2 0 Samples from several populations that are part of the HapMap project. SMAGP NA19239,NA19240 nsv469377 12 49977018 50020218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544262 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BIN2,CELA1 HGDP00845 nsv832408 12 49982872 50157606 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449826 S 95 1 0 BIN2,CELA1,GALNT6,SLC4A8 esv1019413 12 50083157 50083157 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336294 S 2 1 0 "" HuRef nsv52505 12 50083157 50083208 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71083 M 24 "" esv1508794 12 50083157 50083209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292041 S 2 0 1 "" HuRef nsv519438 12 50124056 50186372 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684820,nssv658470,nssv685479,nssv680012,nssv656203,nssv687928,nssv676734,nssv657658,nssv660120,nssv661832,nssv672171 M 2026 11 0 SLC4A8 nsv513361 12 50178457 50178861 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625753 S 1 1 0 SLC4A8 1 esv1700899 12 50178852 50178852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714038 S 2 1 0 SLC4A8 HuRef nsv705 12 50188043 50214863 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6504 S 9 1 0 SLC4A8 NA12156 esv23061 12 50235489 50236930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18340 S 451 0 1 "" NA19129 esv2020985 12 50382519 50382969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672556 S 1 0 1 SCN8A NA18507 nsv706 12 50461726 50473400 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9029 S 9 0 1 SCN8A NA12156 nsv826373 12 50487381 50568626 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439205 S 31 1 0 ANKRD33,FIGNL2,SCN8A NA18973 esv24063 12 50494142 50494977 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17389 S 451 0 1 "" NA07045 nsv826374 12 50499525 50502791 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433123 S 31 1 0 FIGNL2 NA18972 esv28148 12 50500588 50502131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15816 S 451 0 3 FIGNL2 NA07045,NA12489,NA18907 nsv53216 12 50514070 50514070 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71794 M 24 "" esv1551007 12 50514137 50514137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018728 S 2 1 0 "" HuRef nsv826375 12 50526831 50530340 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433124 S 31 1 0 "" NA18972 nsv527286 12 50573043 50600655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703700 S 2026 0 1 ACVRL1 nsv523741 12 50590666 50600655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699557 S 2026 0 1 ACVRL1 nsv707 12 50593228 50624380 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5421 S 9 1 0 ACVRL1 NA19129 nsv708 12 50610941 50627869 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6505 S 9 0 1 "" NA12156 nsv525457 12 50635355 50671078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701585 S 2026 0 1 ACVR1B esv5144 12 50640903 50641235 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27585 S 1 0 1 Single Asian sample YH ACVR1B YH nsv899079 12 50678467 50766449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585952 S 6533 0 1 C12orf44,GRASP,NR4A1 IS37646 esv2622332 12 50680754 50682859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217649 S 1 0 1 "" NA18507 dgv1424n71 12 50682811 50726016 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899081,nsv899080 M 6533 0 3 GRASP,NR4A1 SP54956,SP55019,SP55021 nsv469378 12 50689377 50727817 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544263 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRASP,NR4A1 HGDP00857 nsv899082 12 50700362 50757426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576727 S 6533 0 1 C12orf44,NR4A1 IS34235 dgv1425n71 12 50710263 50802618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899085,nsv899084,nsv899083 M 6533 0 4 C12orf44,NR4A1 IS33601,MS13095,MS14359,MS17208 nsv518451 12 50723758 50726016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684097,nssv656259 M 2026 0 2 NR4A1 nsv832409 12 50735433 50894118 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449827 S 95 0 1 C12orf44,KRT80,LOC283403,LOC283404,NR4A1 nsv470292 12 50746691 50807611 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546944 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C12orf44 HGDP01228 esv29855 12 50788519 50795831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11009 S 451 0 1 "" NA12287 nsv438210 12 50791226 50819085 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470445,nssv470446 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505 nsv523062 12 50802618 50817836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698748 S 2026 0 1 "" nsv818916 12 50802618 50830366 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417704 S 112 1 0 "" NA18999 dgv511e1 12 50849531 51071786 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv563,essv21776 M 271 0 0 KRT7,KRT80,KRT81,KRT83,KRT84,KRT85,KRT86,LOC283403,LOC283404 NA12239 nsv899086 12 50861194 50874396 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597316 S 6533 0 1 KRT80 IS40799 nsv469381 12 50875897 50891833 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544264 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283403,LOC283404 HGDP00444 esv1393138 12 50907812 50908030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307096 S 2 0 1 "" HuRef nsv899087 12 50927395 51005140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546813 S 6533 0 1 KRT7,KRT81,KRT83,KRT86 MS17208 nsv7230 12 50931331 51011292 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9837,nssv1996 M 9 0 0 KRT81,KRT83,KRT86 NA18507,NA18555 nsv510296 12 50937899 50943899 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621384 S 4 0 1 "" NA15510 esv1315017 12 50949215 50949215 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784803 S 2 1 0 "" HuRef nsv899088 12 50953187 51005140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549841 S 6533 0 1 KRT81,KRT83,KRT86 MS18276 nsv899089 12 50953187 51068408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585953 S 6533 0 1 KRT81,KRT83,KRT84,KRT85,KRT86 IS37646 essv22726 12 50962670 51071786 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KRT81,KRT83,KRT84,KRT85,KRT86 NA12239 dgv70e55 12 50962670 51078200 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751104,esv2751105,esv35152,esv2751102,esv2751103 M 771 5 0 KRT81,KRT82,KRT83,KRT84,KRT85,KRT86 BEC_361,BEC_745,BEC_8,NA12239,SPC_140 nsv516938 12 50963976 51074279 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703104,nssv675578,nssv659892,nssv655061,nssv693628,nssv695650,nssv655081 M 2026 5 2 KRT81,KRT82,KRT83,KRT84,KRT85,KRT86 esv29967 12 50965167 51071800 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84206 S 2 1 0 KRT81,KRT83,KRT84,KRT85,KRT86 HuRef nsv826377 12 50967247 50969029 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435353 S 31 0 1 KRT81 NA18942 esv27319 12 50967417 51069760 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18328,esv12884,esv17772,esv10943,esv14644 M 451 4 1 KRT81,KRT83,KRT84,KRT85,KRT86 NA07037,NA11995,NA12239,NA12749,NA12776 esv274227 12 50971676 50971868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580677 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269859 12 50971719 50971859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494183,essv2498295,essv2503328,essv2497306,essv2512989,essv2497787,essv2504577,essv2507807,essv2511253,essv2494499,essv2500129,essv2507626,essv2508603,essv2496122,essv2501609,essv2495180,essv2511988,essv2502143 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18526,NA18542,NA18545,NA18547,NA18555,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18592,NA18603,NA18608,NA18964,NA19238,NA19257 dgv29e180 12 50972027 51069560 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004608,esv993310,esv993544,esv992078 M 3 1 0 KRT83,KRT84,KRT85,KRT86 HuRef nsv818917 12 50977370 51068408 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418397 S 112 1 0 KRT83,KRT84,KRT85,KRT86 NA12239 dgv200n27 12 50977370 51075195 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469389,nsv469388,nsv469385 M 1557 3 0 KRT82,KRT83,KRT84,KRT85,KRT86 1782681287_A,1798860306_A,NINDS_116 nsv826378 12 50984523 50986178 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435354 S 31 0 1 KRT86 NA18942 nsv832410 12 51001647 51187031 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449829,nssv1449830 M 95 2 0 KRT6A,KRT6B,KRT6C,KRT75,KRT82,KRT84,KRT85 nsv832411 12 51027854 51174131 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449833,nssv1449832,nssv1449831 M 95 0 3 KRT6A,KRT6B,KRT6C,KRT75,KRT82,KRT84,KRT85 nsv8972 12 51062509 51066930 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19222 S 31 1 0 Samples from several populations that are part of the HapMap project. KRT84 NA18942 nsv832412 12 51070257 51225503 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449834 S 95 0 1 KRT5,KRT6A,KRT6B,KRT6C,KRT71,KRT75,KRT82 esv268619 12 51099931 51100260 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558231,essv2565745,essv2543819,essv2548254,essv2535297,essv2554323,essv2544482,essv2558515,essv2520167,essv2555153,essv2530646,essv2527212,essv2544959,essv2552930,essv2542817,essv2564981,essv2549322,essv2519695,essv2567990,essv2528854,essv2541863,essv2570249,essv2563752,essv2542161,essv2555337,essv2534321,essv2531510,essv2572160,essv2575582,essv2536262,essv2524815 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA10851,NA11829,NA11992,NA12045,NA12249,NA12287,NA12414,NA12750,NA12815,NA12872,NA12873,NA18522,NA18526,NA18542,NA18550,NA18558,NA18564,NA18566,NA18577,NA18579,NA18592,NA18593,NA18603,NA18856,NA18943,NA18959,NA18961,NA18973,NA19099 nsv520797 12 51101732 51114706 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697617 S 2026 1 0 KRT75 esv1925677 12 51113281 51113701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555509 S 1 0 1 KRT75 NA18507 esv2751106 12 51114706 51150507 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989413,essv6984130 M 771 0 1 KRT6B,KRT6C BEC_783 nsv899090 12 51130061 51151489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500856 S 6533 0 1 KRT6B,KRT6C SP50723 nsv899091 12 51130061 51152327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506828 S 6533 1 0 KRT6B,KRT6C SP54407 esv7827 12 51130731 51152370 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30268 S 1 0 1 KRT6B,KRT6C SJK dgv95n21 12 51151042 51169117 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524862,nsv527439 M 2026 0 2 KRT6A,KRT6C nsv832413 12 51155229 51188922 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449838,nssv1449837,nssv1449835,nssv1449836,nssv1449840 M 95 0 5 KRT6A nsv709 12 51180286 51244513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2884,nssv5422 M 9 2 0 KRT5,KRT71 NA18555,NA19129 esv988599 12 51243937 51248609 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565806 S 3 0 1 KRT74 HuRef nsv832415 12 51247614 51437351 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449841 S 95 0 1 KRT1,KRT2,KRT72,KRT73,KRT74,KRT77 nsv428281 12 51250705 51441494 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452293 S 62 1 0 KRT1,KRT2,KRT72,KRT73,KRT74,KRT77 HGDP00463 esv23533 12 51251420 51252403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13682 S 451 0 1 KRT74 NA12749 nsv522631 12 51289223 51294320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706029 S 2026 0 1 KRT73 esv1004870 12 51289586 51298108 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564523 S 3 0 1 KRT73 HuRef esv26861 12 51332512 51345055 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18046,esv16345 M 451 4 0 "" NA11993,NA12749,NA18523,NA18907 nsv899092 12 51354900 51410739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524211 S 6533 1 0 KRT1,KRT77 SP54913 nsv524563 12 51371139 51373716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700517 S 2026 0 1 KRT77 esv24797 12 51372654 51374194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18901 S 451 0 5 KRT77 NA11894,NA11993,NA12006,NA12489,NA12828 nsv516955 12 51372912 51373716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687359,nssv687207,nssv653722,nssv669997,nssv656115,nssv653500,nssv672700 M 2026 0 7 KRT77 nsv899093 12 51409536 51479682 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551494 S 6533 1 0 KRT3,KRT76 MS18910 nsv528616 12 51436632 51448795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705245 S 2026 0 1 KRT76 nsv899094 12 51455943 51470758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556944 S 6533 1 0 KRT3,KRT76 MS22279 nsv899095 12 51455943 51479682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531309 S 6533 0 1 KRT3,KRT76 MS10391 esv270850 12 51456049 51462130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494210,essv2504225,essv2506265,essv2501036,essv2509166 M 157 5 0 Samples from several populations that are part of the HapMap project. KRT76 NA18502,NA18505,NA18523,NA18856,NA18909 nsv832416 12 51459707 51651633 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449842 S 95 0 1 KRT18,KRT3,KRT4,KRT78,KRT79,KRT8 nsv470293 12 51482354 51503256 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546945 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KRT4,KRT79 HGDP01412 esv272248 12 51507328 51507674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580187,essv2580417 M 7 2 0 Samples from several populations that are part of the HapMap project. KRT79 NA12878,NA12891 nsv711 12 51521153 51553606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5423 S 9 1 0 KRT78 NA19129 dgv1426n71 12 51534088 51590593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899097,nsv899096 M 6533 0 3 KRT8 IS33601,IS39233,IS39417 esv29746 12 51553573 51554771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9949 S 451 0 2 "" NA07045,NA18907 nsv819337 12 51581184 51581860 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419051 S 2 0 1 KRT8 AK1 nsv53037 12 51586050 51591321 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71615 M 24 "" esv1110151 12 51653934 51653998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729901 S 2 0 1 "" HuRef nsv511505 12 51660229 51670814 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626124 S 1 0 1 "" 1 nsv512274 12 51660856 51665917 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624850 S 1 0 1 "" 1 esv24097 12 51661952 51665094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13920 S 451 0 7 "" NA11931,NA12006,NA18511,NA18523,NA18916,NA19108,NA19225 nsv517066 12 51686445 52020773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663667,nssv657233,nssv687149,nssv681824,nssv675597,nssv693430,nssv672368,nssv660173,nssv691076,nssv674194,nssv682223,nssv679753,nssv653279,nssv689893,nssv653723,nssv652857,nssv661140,nssv655358,nssv665557,nssv657807,nssv691972,nssv666122,nssv652339,nssv667936,nssv693629,nssv683336,nssv692422,nssv661533,nssv703541,nssv662487,nssv670606,nssv655026,nssv684821,nssv692446,nssv694517,nssv658412,nssv670952,nssv674334,nssv692890,nssv663755,nssv667423,nssv699709,nssv672758,nssv669794,nssv669550,nssv657491,nssv677722,nssv668331,nssv677764 M 2026 0 49 AAAS,C12orf10,CSAD,EIF4B,ESPL1,IGFBP6,ITGB7,LOC283335,MFSD5,PFDN5,RARG,SOAT2,SP7,SPRYD3,TENC1,ZNF740 nsv899098 12 51721689 51735588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510046 S 6533 0 1 EIF4B,LOC283335,TENC1 SP54956 nsv899099 12 51724073 51822198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592288 S 6533 0 1 IGFBP6,LOC283335,SOAT2,SPRYD3,TENC1 IS39233 esv28917 12 51727075 51727715 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15998 S 451 0 1 LOC283335,TENC1 NA07045 nsv470294 12 51731549 51840550 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546946 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSAD,IGFBP6,LOC283335,SOAT2,SPRYD3,TENC1 HGDP00543 nsv712 12 51751356 51784171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6506 S 9 1 0 IGFBP6,SOAT2,SPRYD3 NA12156 nsv832417 12 51755925 51934282 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449843 S 95 1 0 CSAD,IGFBP6,ITGB7,MFSD5,RARG,SOAT2,SPRYD3,ZNF740 nsv470295 12 51779654 51907978 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546947 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSAD,IGFBP6,ITGB7,RARG,SOAT2,ZNF740 HGDP00599 nsv713 12 51798500 51840158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2885,nssv9030 M 9 2 0 CSAD,SOAT2 NA12156,NA18555 nsv469404 12 51804087 51907978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544271 S 1557 0 1 CSAD,ITGB7,RARG,SOAT2,ZNF740 NINDS_71 nsv513362 12 51828109 51828305 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625754 S 1 1 0 "" 1 nsv52510 12 51872961 51873189 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71088 M 24 ITGB7 dgv27n6 12 51873415 51873761 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv52509,nsv52525 M 24 ITGB7 nsv52860 12 51876250 51876628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71438 M 24 ITGB7 nsv52501 12 51876873 51877544 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71079 M 24 ITGB7 nsv52713 12 51970768 51970768 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71291 M 24 ESPL1 nsv819634 12 52019680 52020813 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419183 S 2 0 1 "" AK1 esv28682 12 52059516 52060091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19903 S 451 0 1 "" NA12239 nsv714 12 52135220 52169210 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2886 S 9 1 0 MAP3K12,PCBP2 NA18555 esv2289574 12 52178790 52179209 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582392 S 1 0 1 MAP3K12 NA18507 esv992595 12 52178960 52179009 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575308 S 3 0 1 MAP3K12 HuRef esv1293318 12 52179005 52179055 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344907 S 2 0 1 MAP3K12 HuRef nsv53289 12 52214209 52214209 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71867 M 24 ATF7 nsv526791 12 52241752 52380303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703144 S 2026 1 0 ATF7,ATP5G2 nsv715 12 52252370 52262686 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9031 S 9 0 1 ATF7 NA12156 esv2473872 12 52361740 52363610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293084 S 1 0 1 "" NA18507 esv259677 12 52433757 52434071 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400198,essv2398503,essv2395003,essv2400170,essv2395858,essv2397132,essv2397744,essv2398334 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11894,NA18511,NA18608,NA18945,NA18951,NA18956,NA19093 esv25185 12 52501749 52502230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12069 S 451 0 1 "" NA19190 esv275113 12 52514494 52517792 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585764,essv2585775 M 1250 1 1 "" esv2494158 12 52531001 52532545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296260 S 1 0 1 "" NA18507 esv2174010 12 52531475 52532167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959707 S 1 0 1 "" NA18507 esv5361 12 52531617 52532014 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27802 S 1 0 1 Single Asian sample YH "" YH esv9504 12 52531665 52531972 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31945 S 1 0 1 "" SJK dgv28n6 12 52531675 52531978 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv52862,nsv52704 M 24 "" esv995288 12 52531679 52531967 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585861 S 3 0 1 "" HuRef esv1554806 12 52531689 52531978 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3828963 S 2 0 1 "" HuRef esv987882 12 52610580 52610580 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572325 S 3 1 0 "" HuRef nsv52676 12 52610582 52610582 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71254 M 24 "" nsv826379 12 52615136 52736120 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441422 S 31 1 0 HOTAIR,HOXC10,HOXC11,HOXC12,HOXC13,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,MIR196A2,MIR615 NA18969 nsv899100 12 52629089 52738542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592289 S 6533 0 1 FLJ12825,HOTAIR,HOXC10,HOXC11,HOXC12,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,MIR196A2,MIR615 IS39233 dgv512e1 12 52633336 52820913 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15041,essv20928,essv877,esv130 M 271 0 0 FLJ12825,HOTAIR,HOXC10,HOXC11,HOXC12,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,LOC100240734,LOC100240735,LOC400043,MIR196A2,MIR615 NA12801,NA19000,NA19129 nsv428282 12 52633336 52820913 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452295 S 62 1 0 FLJ12825,HOTAIR,HOXC10,HOXC11,HOXC12,HOXC4,HOXC5,HOXC6,HOXC8,HOXC9,LOC100240734,LOC100240735,LOC400043,MIR196A2,MIR615 NA19113 nsv899101 12 52674740 52695735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508453,nssv1506032 M 6533 0 2 HOXC8,HOXC9 SP54043,SP54725 nsv899102 12 52674740 52707522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510047 S 6533 0 1 HOXC4,HOXC5,HOXC6,HOXC8,HOXC9 SP54956 nsv832418 12 52696607 52866711 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449844 S 95 0 1 FLJ12825,HOXC4,HOXC5,HOXC6,LOC100240734,LOC100240735,LOC400043,MIR615,SMUG1 nsv716 12 52721196 52753273 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1997 S 9 1 0 FLJ12825,HOXC4 NA18555 esv2547372 12 52743215 52743541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300033 S 1 0 1 FLJ12825 NA18507 nsv832419 12 52744094 52939207 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449845 S 95 0 1 CBX5,FLJ12825,LOC100240734,LOC100240735,LOC400043,MIR3198-2,SMUG1 esv1009650 12 52753570 52814651 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586312 S 3 1 0 FLJ12825,LOC100240734,LOC100240735,LOC400043 HuRef esv26073 12 52754366 52806269 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15520,esv17758 M 451 4 0 FLJ12825,LOC100240734,LOC100240735,LOC400043 NA12878,NA18909,NA18916,NA19225 nsv8973 12 52785827 52798431 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24018 S 31 0 1 Samples from several populations that are part of the HapMap project. FLJ12825 NA18517 nsv832420 12 52817323 52976848 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449846 S 95 0 1 CBX5,HNRNPA1,HNRNPA1P10,MIR3198-2,NFE2,SMUG1 nsv509467 12 52853668 52935649 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620968 S 4 1 0 CBX5,MIR3198-2,SMUG1 NA15510 esv2462007 12 52889096 52889486 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337012 S 1 1 0 "" NA18507 esv25123 12 52959732 52960878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12007 S 451 0 1 CBX5,HNRNPA1,HNRNPA1P10 NA12239 nsv520202 12 53026646 53035101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687022,nssv663068,nssv661710,nssv678294,nssv676793 M 2026 0 5 COPZ1 esv995599 12 53052346 53065450 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565480 S 3 0 1 ZNF385A HuRef nsv717 12 53121029 53140710 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9032 S 9 0 1 GTSF1 NA12156 nsv508674 12 53126177 53202263 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618894 S 4 0 1 GTSF1,NCKAP1L NA10860 nsv832421 12 53202964 53371669 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449848,nssv1449847 M 95 2 0 DCD,GLYCAM1,LACRT,NCKAP1L,PDE1B,PPP1R1A nsv525674 12 53217880 53217973 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701831 S 2026 0 1 NCKAP1L esv1004157 12 53282415 53283403 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564510 S 3 1 0 "" HuRef esv274262 12 53432559 53432998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580822 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268845 12 53441965 53442050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517484,essv2517111,essv2515338,essv2516476,essv2516150,essv2513929 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931,NA12249,NA12814,NA12873,NA19143 esv1066649 12 53442005 53442005 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298169 S 2 1 0 "" HuRef nsv516882 12 53535006 53603053 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681327,nssv654665 M 2026 2 0 MUCL1 nsv826380 12 53561686 53562419 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422871 S 31 0 1 "" NA18552 nsv820017 12 53602655 53611639 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418563 S 2 0 1 "" AK1 nsv899103 12 53621650 53664044 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545023 S 6533 1 0 KIAA0748 MS16643 nsv522483 12 53793732 53796116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705850 S 2026 0 1 "" nsv507643 12 53839311 53845311 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617831 S 4 1 0 "" CHM nsv899104 12 53880976 53999873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600782 S 6533 0 1 OR10A7,OR6C6,OR6C74 IS41924 nsv826381 12 53956808 54011842 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441423 S 31 0 1 OR6C1,OR6C3,OR6C6 NA18969 esv270481 12 53976083 53976180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494204,essv2496164,essv2501146,essv2506733 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18511,NA18516,NA19108 nsv718 12 53992623 54032468 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5424,nssv1085,nssv4024,nssv6507 M 9 4 0 OR6C1,OR6C3 NA12156,NA12878,NA19129,NA19240 nsv82 12 53995934 54011707 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv82 S 1 1 0 OR6C1 NA15510 nsv438211 12 54001143 54011957 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470447,nssv470448 M 269 0 2 Samples from several populations that are part of the HapMap project. OR6C1,OR6C3 NA18506,NA18508 nsv509469 12 54007635 54034261 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620969,nssv619609 M 4 2 0 OR6C3 NA10860,NA15510 nsv512275 12 54013285 54015214 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624851 S 1 0 1 "" 1 esv3556 12 54013397 54014498 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25997 S 1 0 1 Single Asian sample YH "" YH esv9058 12 54013472 54014453 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31499 S 1 0 1 "" SJK nsv52988 12 54013482 54014455 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71566 M 24 "" esv28124 12 54066882 54070577 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14342 S 451 1 0 "" NA11894 esv1002552 12 54068453 54070632 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587063 S 3 1 0 "" HuRef esv274098 12 54068467 54068552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581281 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv832422 12 54118477 54287319 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449852,nssv1449853,nssv1449849 M 95 0 3 OR6C2,OR6C4,OR6C68,OR6C70 nsv437144 12 54147173 54152228 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467025 S 60 0 1 Samples from several populations that are part of the HapMap project. OR6C70 NA12802 nsv899105 12 54182317 54228959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513672,nssv1517355,nssv1505177 M 6533 0 3 "" SP53302,SP55822,SP57266 nsv526676 12 54206581 54207285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703008 S 2026 0 1 "" esv2508562 12 54261828 54263282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315605 S 1 0 1 "" NA18507 nsv469409 12 54262108 54265237 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544273 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01301 esv2278671 12 54262789 54263234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000134 S 1 0 1 "" NA18507 esv2488219 12 54287732 54291093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215052 S 1 0 1 "" NA18507 esv2216398 12 54288365 54290683 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970885 S 1 0 1 "" NA18507 esv24727 12 54288545 54290486 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13228 S 451 0 1 "" NA19190 esv27581 12 54318141 54320945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18086 S 451 0 1 "" NA19240 nsv525231 12 54363186 54410599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701320 S 2026 0 1 BLOC1S1,BLOC1S1-RDH5,CD63,ITGA7,METTL7B,RDH5 nsv832423 12 54367089 54539965 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449854 S 95 1 0 BLOC1S1,BLOC1S1-RDH5,CD63,DNAJC14,GDF11,ITGA7,LOC440104,MMP19,ORMDL2,RDH5,SARNP nsv469410 12 54384305 54457160 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544274 S 1557 0 1 BLOC1S1,BLOC1S1-RDH5,CD63,GDF11,ITGA7,RDH5,SARNP 1780862573_A nsv507644 12 54470391 54476391 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623109,nssv617832,nssv620503,nssv619072 M 4 4 0 SARNP CHM,NA10860,NA15510,NA18994 esv22731 12 54497643 54498378 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16693 S 451 0 1 ORMDL2,SARNP NA12239 nsv719 12 54532672 54577079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1998 S 9 0 1 "" NA18555 nsv508675 12 54535865 54546775 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622657 S 4 0 1 "" NA18994 esv1586752 12 54551443 54551443 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781912 S 2 1 0 "" HuRef esv29831 12 54556499 54558062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9827 S 451 0 1 "" NA19147 nsv832424 12 54561493 54753184 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449855 S 95 0 1 CDK2,DGKA,IKZF4,PMEL,RAB5B,RPS26,SUOX,WIBG esv1266306 12 54585955 54585955 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606733 S 2 1 0 WIBG HuRef nsv819836 12 54635721 54637288 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419284 S 2 0 1 PMEL AK1 nsv832427 12 54678812 54799041 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449856,nssv1449857 M 95 0 2 ERBB3,IKZF4,PA2G4,RPL41,RPS26,SUOX,ZC3H10 esv2585414 12 54747668 54749667 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255138 S 1 0 1 "" NA18507 esv1773887 12 54755857 54755857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260155 S 2 1 0 "" HuRef esv275479 12 54764591 54767330 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585244,essv2585961 M 1250 1 1 ERBB3 esv1499550 12 54771389 54771389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823234 S 2 1 0 ERBB3 HuRef esv21612 12 54811091 54814195 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10159 S 451 1 0 ESYT1 NA11995 nsv720 12 54860977 54893599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5425 S 9 1 0 RNF41,SMARCC2 NA19129 esv2486680 12 55069899 55071545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296433 S 1 0 1 "" NA18507 nsv899106 12 55191825 55290935 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545024 S 6533 1 0 BAZ2A,RBMS2 MS16643 esv1272042 12 55238385 55238385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995668 S 2 1 0 RBMS2 HuRef nsv526706 12 55248199 55274609 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703045 S 2026 1 0 RBMS2 nsv820140 12 55275941 55276312 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418924 S 2 0 1 BAZ2A,RBMS2 AK1 nsv525202 12 55290935 55300111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701284 S 2026 0 1 BAZ2A nsv438212 12 55300111 55301400 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470449,nssv470450 M 269 0 2 Samples from several populations that are part of the HapMap project. BAZ2A NA12707,NA12717 esv272154 12 55332943 55333099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493641,essv2506880,essv2506749,essv2498983 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA19102,NA19108,NA19114 esv22791 12 55396831 55401773 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20867 S 451 0 1 NACA NA12239 esv2235195 12 55397687 55398113 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599989 S 1 0 1 NACA NA18507 esv1234122 12 55398198 55398267 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961694 S 2 0 1 NACA HuRef nsv826382 12 55437731 55494874 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439206 S 31 1 0 HSD17B6 NA18973 nsv899107 12 55579703 55607479 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545025 S 6533 1 0 SDR9C7 MS16643 nsv438213 12 55606077 55610763 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470451,nssv470453 M 269 0 2 Samples from several populations that are part of the HapMap project. SDR9C7 NA18503,NA19103 esv24053 12 55617449 55666147 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13560,esv10544,esv15919,esv18102,esv12940 M 451 1 2 RDH16 NA12489,NA18505,NA19147 dgv1427n71 12 55618008 55667526 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899109,nsv899108 M 6533 5 0 RDH16 SP50038,SP50059,SP50520,SP55257,SP56975 nsv436148 12 55618247 55664031 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466704 S 2 0 1 Samples from several populations that are part of the HapMap project. RDH16 NA18505 nsv512276 12 55620830 55665528 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624852 S 1 0 1 RDH16 1 nsv832428 12 55626876 55821961 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449858 S 95 1 0 GPR182,LRP1,MYO1A,NAB2,RDH16,STAT6,TAC3,TMEM194A,ZBTB39 nsv516039 12 55628455 55663776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660157,nssv674361,nssv665862 M 2026 0 3 RDH16 nsv820171 12 55689927 55690215 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419736 S 2 0 1 TAC3 AK1 nsv899110 12 55709201 55758769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517356 S 6533 0 1 MYO1A,TMEM194A SP57266 nsv722 12 55710216 55722973 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10865 S 9 1 0 MYO1A NA18956 nsv899111 12 55724925 55758769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517977 S 6533 0 1 MYO1A,TMEM194A SP57418 dgv96n21 12 55819249 55923860 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525873,nsv518980 M 2026 0 2 LRP1,MIR1228,NDUFA4L2,NXPH4,SHMT2,STAC3 dgv1428n71 12 55821533 55887655 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899113,nsv899112 M 6533 0 2 LRP1,MIR1228 SP56874,SP57292 nsv819001 12 55834244 55834413 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418937 S 2 0 1 LRP1 AK1 nsv899114 12 55843035 55874106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518427 S 6533 0 1 LRP1 SP57553 nsv519293 12 55869939 55923860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683823,nssv655228,nssv661597,nssv695975 M 2026 0 4 LRP1,MIR1228,NDUFA4L2,NXPH4,SHMT2,STAC3 esv2571611 12 55871583 55872313 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267696 S 1 1 0 LRP1 NA18507 nsv899115 12 55880161 55887655 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516647,nssv1499529,nssv1515742,nssv1519444,nssv1516485,nssv1506965 M 6533 3 3 LRP1 SP50179,SP54442,SP56260,SP56846,SP56886,SP81036 nsv899116 12 55883436 55909630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510048 S 6533 0 1 LRP1,NXPH4,SHMT2 SP54956 esv1358710 12 55988165 55988682 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986275 S 2 0 1 R3HDM2 HuRef nsv723 12 56001140 56032327 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10866 S 9 1 0 "" NA18956 nsv516655 12 56049787 56097681 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684822,nssv695292,nssv669923,nssv675598 M 2026 3 1 "" esv989801 12 56054302 56074978 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564367 S 3 0 0 "" HuRef nsv899117 12 56097681 56212739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592290 S 6533 0 1 ARHGAP9,DCTN2,DDIT3,GLI1,INHBC,INHBE,MARS,MBD6 IS39233 nsv899118 12 56097681 56232744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545026 S 6533 1 0 ARHGAP9,DCTN2,DDIT3,GLI1,INHBC,INHBE,KIF5A,MARS,MBD6 MS16643 dgv513e1 12 56116000 56288135 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14160,essv2606,essv12222,essv1754,essv2457,essv5579,essv12603,essv7556,essv9214,essv12799,essv8804,essv15049,esv309,essv15743,essv9042,essv5397,essv1818,essv16685,essv14446,essv4250,essv10445,essv14282,essv8615,essv10316,essv15813,essv9393,essv13879,essv10578,essv16939,essv9116,essv17129,essv14066,essv9825,essv14541,essv13014,essv1130,essv5465,essv2546 M 271 0 0 ARHGAP9,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,MARS,MBD6,PIP4K2C NA18506,NA18508,NA18515,NA18529,NA18545,NA18563,NA18603,NA18632,NA18853,NA18854,NA18859,NA18860,NA18861,NA18863,NA18964,NA18976,NA18990,NA18997,NA18999,NA19003,NA19098,NA19101,NA19120,NA19128,NA19129,NA19131,NA19132,NA19140,NA19142,NA19144,NA19171,NA19194,NA19201,NA19202,NA19223,NA19239,NA19240 nsv428283 12 56116000 56288135 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452298,nssv452301,nssv452296,nssv452300,nssv452299 M 62 5 0 ARHGAP9,DCTN2,DDIT3,DTX3,GLI1,INHBC,INHBE,KIF5A,MARS,MBD6,PIP4K2C HGDP01087,NA19096,NA19108,NA19113,NA19257 nsv469411 12 56130316 56207455 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544275 S 1557 0 1 ARHGAP9,DDIT3,GLI1,INHBC,INHBE,MARS,MBD6 NINDS_70 nsv899119 12 56137449 56209718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510049 S 6533 0 1 ARHGAP9,DDIT3,GLI1,INHBE,MARS,MBD6 SP54956 nsv8974 12 56139046 56152148 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26011 S 31 1 0 Samples from several populations that are part of the HapMap project. GLI1 NA19221 nsv819597 12 56154828 56156477 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419299 S 2 1 0 ARHGAP9 AK1 nsv819781 12 56159831 56168484 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419875 S 2 0 1 ARHGAP9,MARS AK1 nsv899120 12 56172876 56207455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511473 S 6533 0 1 DDIT3,MARS,MBD6 SP55021 esv1408918 12 56173713 56173713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826683 S 2 1 0 MARS HuRef nsv724 12 56206732 56249804 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4026,nssv1999 M 9 2 0 DCTN2,KIF5A,MBD6 NA12878,NA18555 nsv819927 12 56215461 56215645 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419081 S 2 0 1 DCTN2 AK1 nsv8975 12 56229263 56231510 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21519 S 31 1 0 Samples from several populations that are part of the HapMap project. KIF5A NA12740 nsv725 12 56252816 56280075 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4628 S 9 0 1 KIF5A,PIP4K2C NA19129 nsv53146 12 56268709 56269968 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71724 M 24 "" nsv511490 12 56313053 56321973 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626107 S 1 0 1 B4GALNT1 1 esv2608296 12 56313809 56316447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372636 S 1 0 1 "" NA18507 esv2399103 12 56314139 56315720 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693726 S 1 0 1 "" NA18507 nsv512277 12 56314194 56317080 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624853 S 1 0 1 "" 1 esv27746 12 56314371 56315233 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13548 S 451 0 12 "" NA11931,NA11993,NA12006,NA12239,NA12749,NA18502,NA18508,NA18511,NA18909,NA19099,NA19225,NA19240 nsv508676 12 56331403 56384805 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622658 S 4 0 1 OS9 NA18994 esv1145052 12 56345398 56345398 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3669742 S 2 1 0 "" HuRef esv1737828 12 56358378 56358378 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911713 S 2 1 0 "" HuRef esv1414542 12 56358414 56358414 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847055 S 2 1 0 "" HuRef nsv899121 12 56366092 56463559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585954 S 6533 0 1 AGAP2,CDK4,CYP27B1,LOC100130776,MARCH9,METTL1,METTL21B,OS9,TSFM,TSPAN31 IS37646 esv268072 12 56369504 56369845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519190,essv2517521,essv2517085,essv2514884,essv2515307,essv2514482 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA11931,NA12234,NA12249,NA12874 nsv470296 12 56398456 56463559 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546948 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGAP2,CDK4,CYP27B1,LOC100130776,MARCH9,METTL1,METTL21B,OS9,TSFM,TSPAN31 HGDP01412 nsv826383 12 56404347 56409914 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433125 S 31 1 0 AGAP2,LOC100130776 NA18972 nsv899122 12 56404515 56423830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501410 S 6533 0 1 AGAP2,LOC100130776 SP51109 nsv899123 12 56404515 56441290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510050 S 6533 0 1 AGAP2,CDK4,LOC100130776,MARCH9,TSPAN31 SP54956 nsv826384 12 56411025 56444117 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439208 S 31 1 0 AGAP2,CDK4,CYP27B1,MARCH9,TSPAN31 NA18973 nsv826385 12 56416175 56419694 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433126 S 31 1 0 AGAP2 NA18972 nsv510601 12 56416565 56478192 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622659 S 4 0 1 AGAP2,AVIL,CDK4,CYP27B1,MARCH9,METTL1,METTL21B,TSFM,TSPAN31 NA18994 nsv470297 12 56419523 56488686 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546949 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGAP2,AVIL,CDK4,CYP27B1,MARCH9,METTL1,METTL21B,TSFM,TSPAN31 HGDP00866 nsv826386 12 56421570 56436802 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441424 S 31 1 0 AGAP2,CDK4,MARCH9,TSPAN31 NA18969 nsv819021 12 56426082 56427135 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419162 S 2 0 1 TSPAN31 AK1 nsv726 12 56497446 56532162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4027 S 9 1 0 CTDSP2,MIR26A2 NA12878 nsv826388 12 56524926 56528664 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433127 S 31 1 0 CTDSP2 NA18972 nsv727 12 56549866 56584743 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1086 S 9 1 0 "" NA19240 nsv523853 12 56636898 56672989 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699688 S 2026 1 0 XRCC6BP1 esv268183 12 56645307 56645636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565871,essv2546422,essv2521341,essv2526123,essv2536631,essv2544051,essv2556595,essv2568182,essv2577338,essv2548542,essv2521637,essv2576610,essv2525452,essv2535376,essv2554215,essv2552036,essv2520690,essv2529307,essv2564747,essv2577731,essv2553858,essv2559583,essv2565443,essv2576414,essv2554988,essv2530865,essv2562141,essv2537234,essv2528435,essv2530470,essv2540134,essv2557289,essv2551886,essv2532291,essv2562728,essv2569464,essv2578587,essv2558852,essv2537054,essv2538896,essv2569783,essv2527215,essv2561341,essv2544761,essv2538191,essv2519781,essv2559846,essv2532711,essv2541543,essv2563576,essv2572533,essv2559065,essv2566812,essv2551059,essv2543740,essv2556254,essv2528028,essv2578313,essv2555266,essv2533673,essv2567103,essv2573934,essv2557587,essv2555856,essv2543309,essv2576966,essv2575577,essv2575155,essv2538648,essv2526730,essv2560605,essv2574549,essv2530348,essv2572635,essv2568746,essv2545043,essv2560482,essv2549751,essv2571553,essv2545866,essv2574231,essv2551336,essv2535988,essv2532987,essv2554788,essv2547964,essv2525022,essv2563327 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11881,NA11894,NA11918,NA11920,NA11992,NA11994,NA11995,NA12043,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12489,NA12716,NA12749,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA18486,NA18489,NA18499,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18547,NA18566,NA18570,NA18576,NA18592,NA18603,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18907,NA18940,NA18943,NA18944,NA18947,NA18951,NA18953,NA18956,NA18965,NA18970,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273599 12 56645308 56645637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581963,essv2582545,essv2583911,essv2584856,essv2583726 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 nsv899124 12 56678106 57169774 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504282 S 6533 1 0 "" SP52390 esv267701 12 56744452 56744787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565579,essv2575978,essv2546369,essv2521081,essv2525858,essv2542304,essv2536559,essv2543935,essv2571084,essv2568420,essv2577556,essv2548549,essv2535454,essv2554039,essv2544523,essv2520402,essv2547537,essv2529218,essv2564697,essv2577648,essv2553582,essv2559431,essv2576188,essv2520087,essv2530663,essv2561763,essv2537340,essv2528178,essv2540058,essv2557455,essv2556904,essv2551907,essv2532254,essv2569201,essv2578699,essv2558782,essv2569695,essv2527347,essv2561479,essv2544918,essv2563034,essv2543007,essv2564983,essv2549542,essv2519806,essv2559996,essv2532537,essv2541530,essv2570341,essv2553117,essv2535577,essv2566703,essv2542154,essv2551057,essv2543591,essv2556386,essv2527913,essv2578381,essv2573244,essv2555435,essv2533468,essv2555724,essv2573883,essv2527481,essv2557599,essv2543151,essv2577148,essv2575748,essv2575025,essv2538667,essv2526323,essv2560543,essv2574740,essv2568436,essv2560309,essv2571105,essv2551607,essv2536238,essv2537812,essv2548728,essv2533197,essv2554341,essv2547834,essv2524857 M 157 84 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA11829,NA11830,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12043,NA12045,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA18489,NA18499,NA18501,NA18504,NA18505,NA18508,NA18510,NA18516,NA18520,NA18522,NA18523,NA18526,NA18532,NA18550,NA18558,NA18564,NA18566,NA18570,NA18576,NA18592,NA18593,NA18605,NA18608,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18940,NA18942,NA18943,NA18944,NA18945,NA18951,NA18952,NA18953,NA18965,NA18970,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19190,NA19238,NA19257 esv272399 12 56744453 56744711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580768,essv2579723 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv728 12 56744619 56785805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9838,nssv10867,nssv2000,nssv10903,nssv1087,nssv6508,nssv5426 M 9 7 0 "" NA12156,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509470 12 56750014 56759769 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620970,nssv623628 M 4 2 0 "" NA15510,NA18994 nsv511018 12 56750014 56768441 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618670 S 4 0 0 "" CHM nsv83 12 56754551 56760334 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv83 S 1 1 0 "" NA15510 esv992021 12 56755039 56755766 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565106 S 3 1 0 "" HuRef esv1672580 12 56755766 56755766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827372 S 2 1 0 "" HuRef nsv510297 12 56756769 56762769 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622213 S 4 0 1 "" NA10860 nsv729 12 56776361 56821733 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6509 S 9 0 1 "" NA12156 esv2437831 12 56788826 56799428 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208780 S 1 0 1 "" NA18507 esv2002221 12 56795705 56800190 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511563 S 1 0 1 "" NA18507 esv2587357 12 56795742 56801072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323705 S 1 0 1 "" NA18507 esv27798 12 56795770 56799972 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11044 S 451 0 8 "" NA18502,NA18511,NA18523,NA18861,NA18907,NA19099,NA19147,NA19225 esv2193889 12 56830956 56831316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922885 S 1 0 1 "" NA18507 esv987748 12 56838247 56838247 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579309 S 3 1 0 "" HuRef nsv527323 12 56846693 56854644 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703748 S 2026 1 0 "" esv1374807 12 56891216 56891216 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225160 S 2 1 0 "" HuRef esv25579 12 56924119 56926236 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15226 S 451 17 0 "" NA11993,NA12004,NA12006,NA12414,NA12749,NA12776,NA18502,NA18508,NA18517,NA18523,NA18909,NA18916,NA19114,NA19147,NA19190,NA19225,NA19240 nsv730 12 56985059 57045363 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5427,nssv10868,nssv9839,nssv9948,nssv6510,nssv1088,nssv10905 M 9 0 6 "" NA12156,NA15510,NA18507,NA18956,NA19129,NA19240 nsv8976 12 57004218 57020779 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20004,nssv20396,nssv23171,nssv20553,nssv20794,nssv20718,nssv21549 M 31 7 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA12740,NA18564,NA18975,NA19007,NA19240 dgv40n16 12 57006570 57017884 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435633,nsv436141 M 2 0 2 "" NA15510,NA18505 nsv821340 12 57006919 57018118 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421006 S 1 0 1 "" NA10851 nsv826389 12 57006919 57018118 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433128 S 31 1 0 "" NA18972 nsv84 12 57006943 57032578 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv84 S 1 0 1 "" NA15510 nsv512278 12 57007037 57017287 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624854 S 1 0 1 "" 1 esv2448288 12 57007389 57017283 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247674 S 1 0 1 "" NA18507 dgv16n47 12 57008174 57016967 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498792,nsv498793 M 9 0 2 "" nsv510602 12 57008716 57057209 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618895,nssv622660,nssv620049 M 4 0 3 "" NA10860,NA15510,NA18994 nsv731 12 57104480 57137085 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1089 S 9 1 0 "" NA19240 nsv510298 12 57109770 57115770 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621385,nssv622214,nssv624118 M 4 0 3 "" NA10860,NA15510,NA18994 esv275155 12 57126583 57131053 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585283 S 1250 0 1 "" nsv832429 12 57166978 57340396 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449859 S 95 0 1 "" nsv899125 12 57247994 57341592 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545027 S 6533 1 0 "" MS16643 esv2553370 12 57277272 57278729 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384984 S 1 0 1 "" NA18507 esv2287179 12 57277740 57278233 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980505 S 1 0 1 "" NA18507 dgv514e1 12 57308996 57609312 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv850,essv22362 M 271 0 0 LRIG3 NA12875 esv1009996 12 57314769 57316900 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564677 S 3 1 0 "" HuRef esv273301 12 57315319 57316997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579034,essv2579569 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270072 12 57315320 57316992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506799,essv2495459,essv2511425,essv2511235,essv2495252,essv2504410,essv2499377,essv2507962,essv2503408,essv2493416,essv2493398,essv2505027,essv2508795,essv2500271,essv2512523,essv2494748,essv2495003,essv2507623,essv2505355,essv2513496,essv2507328,essv2497421,essv2506936,essv2498666,essv2511934,essv2501915,essv2498029,essv2502213,essv2503676,essv2495059,essv2513059 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA10847,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12716,NA12763,NA12776,NA12828,NA12878,NA12891,NA18489,NA18519,NA18520,NA18576,NA18853,NA18907,NA18912,NA18959,NA19102,NA19138,NA19238,NA19239,NA19240,NA19257 nsv826390 12 57384262 57486053 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441425 S 31 0 1 "" NA18969 esv2609760 12 57406234 57406345 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313919 S 1 1 0 "" NA18507 nsv818918 12 57475381 57509946 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415786 S 112 1 0 "" NA12875 essv24604 12 57477996 57520339 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12875 nsv899126 12 57486239 57542124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587298 S 6533 0 1 "" IS38006 nsv438214 12 57502971 57518064 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470460,nssv470455,nssv470454,nssv470458,nssv470456,nssv470461,nssv470459,nssv470464,nssv470457,nssv470462 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18506,NA18507,NA18870,NA18872,NA19101,NA19103,NA19119,NA19120 esv2425793 12 57504744 57505902 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248272 S 1 1 0 "" NA18507 esv270551 12 57505294 57505633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558029,essv2565775,essv2575906,essv2540751,essv2546306,essv2536481,essv2522977,essv2543950,essv2568165,essv2545586,essv2531746,essv2570469,essv2548502,essv2576853,essv2552256,essv2520633,essv2558327,essv2564706,essv2578060,essv2520219,essv2537294,essv2528361,essv2547022,essv2540152,essv2520987,essv2557135,essv2552453,essv2532198,essv2550228,essv2537083,essv2538919,essv2569759,essv2527346,essv2523747,essv2553024,essv2540384,essv2524507,essv2564814,essv2534609,essv2549564,essv2531154,essv2532752,essv2567879,essv2528941,essv2567325,essv2572225,essv2558982,essv2550923,essv2568845,essv2543556,essv2556164,essv2527931,essv2533931,essv2555361,essv2557710,essv2534432,essv2522439,essv2573691,essv2543070,essv2526797,essv2529835,essv2575687,essv2575133,essv2572687,essv2568427,essv2560282,essv2571259,essv2545888,essv2574085,essv2551535,essv2536117,essv2547737,essv2524975 M 157 73 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11881,NA11920,NA11931,NA11992,NA11995,NA12003,NA12006,NA12044,NA12045,NA12154,NA12489,NA12716,NA12750,NA12751,NA12761,NA12815,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18505,NA18511,NA18517,NA18519,NA18520,NA18522,NA18537,NA18542,NA18552,NA18555,NA18558,NA18561,NA18564,NA18573,NA18576,NA18577,NA18579,NA18582,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18907,NA18916,NA18943,NA18953,NA18959,NA18960,NA18964,NA18965,NA19005,NA19093,NA19099,NA19102,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv274576 12 57505294 57505633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581722,essv2582669,essv2583199,essv2584354,essv2584435,essv2583560 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv733 12 57596554 57653627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1090,nssv9033,nssv5428 M 9 3 0 LRIG3 NA12156,NA19129,NA19240 esv273948 12 57641631 57641961 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584096,essv2584574,essv2583307 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271246 12 57641633 57641963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536586,essv2544060,essv2576814,essv2535479,essv2576254,essv2557103,essv2551938,essv2578732,essv2562894,essv2556423,essv2527877,essv2562438,essv2529669,essv2526368,essv2574543,essv2568552,essv2560492,essv2548108,essv2571451,essv2545936,essv2574407,essv2551387,essv2533030 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11920,NA11992,NA12154,NA12249,NA12814,NA18501,NA18504,NA18510,NA18532,NA18871,NA18907,NA18909,NA19093,NA19114,NA19138,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 nsv826391 12 57660064 57660567 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428571 S 31 0 1 "" AK10 esv271741 12 57696391 57696662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521074,essv2550393,essv2547364,essv2542627,essv2565901,essv2528775,essv2555860 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12234,NA12717,NA18550,NA18572,NA18579,NA18956 nsv526485 12 57699069 57708935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702794 S 2026 0 1 "" nsv522058 12 57702994 57708935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694829 S 2026 0 1 "" nsv524903 12 57707186 57708935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700914 S 2026 0 1 "" esv270834 12 57778168 57778500 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565750,essv2540890,essv2536402,essv2522864,essv2543888,essv2545579,essv2548455,essv2576909,essv2535036,essv2558700,essv2576388,essv2520242,essv2546915,essv2557293,essv2538952,essv2562945,essv2542865,essv2534774,essv2566011,essv2531052,essv2567919,essv2528783,essv2541785,essv2572340,essv2539293,essv2534010,essv2555711,essv2529877,essv2522320,essv2525713,essv2529586,essv2575758,essv2530216,essv2560295,essv2571117,essv2546089,essv2574536,essv2533340,essv2563136 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA11829,NA11831,NA11920,NA11931,NA11992,NA12003,NA12045,NA12154,NA12249,NA12750,NA12814,NA12815,NA12892,NA18499,NA18519,NA18532,NA18550,NA18561,NA18572,NA18573,NA18577,NA18579,NA18592,NA18609,NA18912,NA18916,NA18945,NA18949,NA18960,NA18980,NA19093,NA19099,NA19141,NA19190,NA19238,NA19239,NA19240 esv274119 12 57778169 57778499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583225,essv2584094,essv2584591,essv2583435 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv469412 12 57790867 57828384 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544276 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00552 nsv832430 12 57839078 57944600 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449860 S 95 0 1 "" nsv899127 12 57861697 57969548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591879 S 6533 0 1 "" IS39081 esv5514 12 57880533 57880635 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27955 S 1 1 0 "" SJK nsv899128 12 57923236 58052436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546200 S 6533 0 1 "" MS17114 nsv520767 12 57957655 58068495 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697599 S 2026 1 0 "" nsv522193 12 58038750 58043812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694968 S 2026 0 1 "" nsv734 12 58063941 58096598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10869 S 9 1 0 "" NA18956 nsv735 12 58085499 58168983 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6511,nssv9034 M 9 0 1 "" NA12156 nsv826392 12 58091904 58182070 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441426 S 31 0 1 "" NA18969 nsv899129 12 58107233 58227690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525602 S 6533 0 1 "" SP56728 esv1526349 12 58120524 58120574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619593 S 2 0 1 "" HuRef esv270114 12 58135215 58135541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548388,essv2564618,essv2577924,essv2576288,essv2558804,essv2543508,essv2536320,essv2537773,essv2549069 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA12045,NA12751,NA12761,NA12814,NA18516,NA18870 nsv469413 12 58142428 58203034 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544277 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00210 nsv899130 12 58181815 58256898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533915 S 6533 0 1 "" MS11332 esv2600025 12 58207328 58225859 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392578 S 1 0 1 "" NA18507 esv29255 12 58211755 58232863 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16545,esv10784 M 451 1 6 "" NA11931,NA11995,NA12006,NA12239,NA12489,NA15510,NA19225 dgv39n17 12 58221376 58238640 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437149,nsv437148,nsv437150,nsv437145,nsv437754 M 60 0 5 "" NA06991,NA10831,NA10835,NA12864,NA18857 nsv438216 12 58222193 58230898 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470467,nssv470470,nssv470469,nssv470475,nssv470471,nssv470472,nssv470465,nssv470466,nssv470476,nssv470468,nssv470473 M 269 0 11 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA10831,NA10835,NA12155,NA12248,NA12864,NA12872,NA18965,NA18971,NA18997 nsv899131 12 58228389 58410356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591752 S 6533 0 1 SLC16A7 IS39011 esv21919 12 58254833 58257118 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13197,esv16305,esv12364 M 451 0 13 "" NA07045,NA11894,NA11993,NA11995,NA12239,NA12878,NA18505,NA18517,NA18523,NA18858,NA18907,NA19190,NA19225 nsv899132 12 58373839 58497743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500334 S 6533 0 1 SLC16A7 SP50182 esv270362 12 58386867 58387639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507156 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC16A7 NA18870 esv23936 12 58388653 58390314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18397 S 451 0 2 SLC16A7 NA18523,NA18861 esv271056 12 58405023 58405373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512579,essv2493718,essv2506139,essv2505348,essv2500932,essv2493935,essv2497602,essv2499807,essv2512190,essv2498213 M 157 10 0 Samples from several populations that are part of the HapMap project. SLC16A7 NA18489,NA18517,NA18523,NA18853,NA18856,NA18871,NA19147,NA19225,NA19238,NA19240 esv273500 12 58405030 58405322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583965,essv2583622 M 7 2 0 Samples from several populations that are part of the HapMap project. SLC16A7 NA19238,NA19240 nsv899133 12 58421771 58488485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540158 S 6533 0 1 SLC16A7 MS14717 nsv899134 12 58427785 58549990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591753 S 6533 0 1 SLC16A7 IS39011 nsv899135 12 58442313 58514877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583535 S 6533 0 1 SLC16A7 IS36527 esv275119 12 58456154 58462846 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586004 S 1250 0 1 SLC16A7 esv2751107 12 58538267 58639800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984342,essv6987565 M 771 1 0 "" BEC_692 nsv826393 12 58579892 58645550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441427 S 31 0 1 "" NA18969 esv270740 12 58586244 58586638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509088,essv2497514,essv2499694 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19147,NA19225 nsv516042 12 58640574 58745637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661223,nssv691552,nssv665863 M 2026 0 3 "" nsv899136 12 58659511 58769874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579861 S 6533 0 1 "" IS35181 nsv826394 12 58777531 58803207 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441428 S 31 0 1 "" NA18969 nsv511019 12 58795890 58834904 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622397,nssv624337 M 4 0 0 "" NA10860,NA18994 nsv511495 12 58804866 58828199 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626113 S 1 0 1 "" 1 nsv435632 12 58806702 58811408 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466708 S 2 0 1 "" NA15510 esv996790 12 58806937 58811665 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564115 S 3 0 1 "" HuRef esv2454662 12 58807796 58812233 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393277 S 1 0 1 "" NA18507 esv1925610 12 58807930 58811496 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504895 S 1 0 1 "" NA18507 nsv819163 12 58807967 58811444 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419551 S 2 1 0 "" AK1 dgv290n67 12 58808022 58811315 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826395,nsv826397,nsv826396 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821477 12 58808022 58811315 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421007 S 1 0 1 "" NA10851 nsv512279 12 58808037 58811310 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624856 S 1 0 1 "" 1 esv1364456 12 58808112 58811308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011150 S 2 0 1 "" HuRef esv1010621 12 58808113 58809658 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586455 S 3 0 1 "" HuRef esv25245 12 58808113 58811315 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15422 S 451 33 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv6654 12 58808113 58811339 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29095 S 1 0 1 "" SJK nsv507645 12 58822403 58828403 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620504 S 4 1 0 "" NA15510 esv268866 12 58834399 58834718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503379,essv2494994,essv2513317,essv2509141,essv2499133 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12716,NA18520,NA18907,NA18909,NA19114 nsv899137 12 58855158 59083350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555507 S 6533 0 1 "" MS21397 nsv832431 12 58912559 59095500 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449861 S 95 1 0 "" esv259421 12 58961265 58961624 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394142,essv2393889 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv259815 12 58961274 58961635 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400252,essv2397323,essv2401090,essv2398571,essv2396477,essv2399483,essv2398203,essv2395146,essv2399546 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA12878,NA12891,NA18516,NA18517,NA18858,NA18909,NA19108,NA19137 esv269757 12 58964075 58964435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514509,essv2519305,essv2518553,essv2514989,essv2516460,essv2515623,essv2516103,essv2514288,essv2513577 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11894,NA12287,NA12812,NA12814,NA12815,NA12873,NA12874 nsv8977 12 59039220 59044846 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23199,nssv21299 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19173,NA19240 nsv437755 12 59039374 59044197 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467636 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv23933 12 59039607 59044175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20278 S 451 0 3 "" NA18511,NA19108,NA19240 nsv832432 12 59087886 59255174 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449863 S 95 0 1 "" nsv899138 12 59135229 59253264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599260,nssv1591221,nssv1566063 M 6533 0 3 "" IS30567,IS38654,IS41511 nsv826399 12 59144437 59186406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441431 S 31 0 1 "" NA18969 esv32810 12 59159790 59165069 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93777,essv99923 M 51 1 1 "" 21972,22086 esv22535 12 59220144 59222272 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14474 S 451 0 1 "" NA12156 nsv470298 12 59248588 59314484 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546950 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01031 nsv469414 12 59253264 59314484 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544278 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01031 dgv1429n71 12 59329972 59602876 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899141,nsv899140,nsv899139 M 6533 0 3 "" IS30522,MS18978,MS19414 esv2492096 12 59339475 59340445 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352645 S 1 1 0 "" NA18507 esv273675 12 59340053 59340372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580065,essv2580268,essv2580603 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv269338 12 59340060 59340365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575988,essv2546166,essv2526087,essv2536795,essv2522953,essv2544200,essv2531803,essv2521518,essv2544378,essv2552320,essv2520383,essv2530549,essv2557299,essv2556913,essv2552351,essv2551859,essv2532261,essv2562640,essv2569502,essv2578756,essv2537055,essv2544590,essv2523695,essv2552850,essv2538402,essv2524541,essv2564840,essv2519865,essv2559925,essv2531103,essv2567982,essv2541801,essv2570273,essv2535561,essv2566883,essv2550929,essv2543423,essv2556372,essv2527786,essv2539508,essv2533849,essv2533455,essv2555643,essv2567072,essv2566404,essv2527709,essv2557583,essv2531675,essv2573479,essv2543248,essv2577012,essv2525546,essv2526879,essv2575661,essv2575006,essv2538470,essv2526697,essv2560596,essv2523960,essv2574923,essv2568629,essv2549772,essv2571158,essv2545852,essv2574247,essv2551233,essv2549125,essv2554772,essv2524811 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07357,NA11830,NA11881,NA11918,NA11920,NA11931,NA11992,NA12006,NA12144,NA12414,NA12489,NA12716,NA12873,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18526,NA18537,NA18542,NA18547,NA18555,NA18558,NA18566,NA18570,NA18573,NA18577,NA18592,NA18593,NA18608,NA18853,NA18858,NA18870,NA18871,NA18907,NA18912,NA18916,NA18944,NA18945,NA18947,NA18948,NA18952,NA18953,NA18961,NA18964,NA18965,NA18970,NA18980,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 nsv826400 12 59373090 59526447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441432 S 31 0 1 "" NA18969 nsv511502 12 59376339 59389829 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626120 S 1 1 0 "" 1 esv2576000 12 59377893 59380088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286794 S 1 0 1 "" NA18507 esv28571 12 59378061 59379508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17266,esv21070 M 451 0 7 "" NA18502,NA18858,NA18909,NA18916,NA19114,NA19147,NA19225 esv1991637 12 59378438 59379740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926043 S 1 0 1 "" NA18507 nsv832433 12 59396761 59583586 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449864 S 95 0 1 "" nsv526849 12 59440276 59539752 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703207 S 2026 1 0 "" esv274043 12 59533696 59534224 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580162,essv2580506,essv2580762,essv2579211,essv2579530 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv267769 12 59533771 59534167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494313,essv2493251,essv2502992,essv2509332,essv2501301,essv2504612,essv2498918,essv2499836,essv2512057,essv2501965 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18507,NA18909,NA19093,NA19099,NA19138,NA19225,NA19238,NA19239 nsv899142 12 59569067 59741054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552948 S 6533 0 1 "" MS19652 esv2598547 12 59587928 59589309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260473 S 1 0 1 "" NA18507 dgv1e22 12 59588530 59588700 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array esv1203978,esv1179638 M 2 0 1 "" HuRef nsv818919 12 59595154 59602876 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417585 S 112 1 0 "" NA18972 nsv469415 12 59602058 59677465 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544279 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00047 esv7414 12 59618758 59619650 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29855 S 1 0 1 "" SJK nsv899143 12 59631212 59689345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514459 S 6533 0 1 "" SP56004 esv1106848 12 59644990 59644990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760780 S 2 1 0 "" HuRef nsv899144 12 59660782 60209145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566765 S 6533 1 0 "" IS30899 dgv1430n71 12 59677465 59912646 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899146,nsv899145 M 6533 0 2 "" IS34645,IS35083 esv1009774 12 59687150 59687229 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582016 S 3 0 1 "" HuRef nsv826401 12 59711372 59711870 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436948 S 31 0 1 "" NA18542 nsv528557 12 59716565 59720274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705172 S 2026 0 1 "" nsv509471 12 59730110 59754986 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618093,nssv620971 M 4 2 0 "" CHM,NA15510 nsv507646 12 59736507 59742507 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623110 S 4 1 0 "" NA18994 esv1005466 12 59741315 59742782 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564040 S 3 1 0 "" HuRef nsv899147 12 59763362 59929431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594777 S 6533 1 0 "" IS40023 dgv515e1 12 59797263 59898818 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9262,esv1169 M 271 0 0 "" NA19137 nsv507647 12 59802439 59808439 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619073,nssv623111 M 4 2 0 "" NA10860,NA18994 nsv8978 12 59809393 59820361 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18550 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12802 nsv818920 12 59816779 59879553 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416967 S 112 0 1 "" NA19137 esv272062 12 59824177 59824538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510240,essv2510155,essv2511432,essv2504417,essv2499368,essv2505148,essv2512421,essv2508043,essv2505527,essv2513139,essv2508540,essv2508390,essv2502564,essv2507793,essv2505020,essv2493299,essv2503305,essv2497275,essv2512952,essv2500036,essv2508286,essv2504519,essv2507925,essv2506361,essv2500634,essv2512651,essv2508107,essv2508650,essv2510042,essv2496091,essv2499305,essv2512907,essv2507580,essv2513559,essv2504974,essv2497973,essv2502400,essv2512295,essv2505433,essv2502738,essv2510928,essv2510397,essv2503625,essv2495785,essv2503979,essv2495052,essv2513041 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA10847,NA10851,NA11829,NA11920,NA11993,NA11994,NA11995,NA12043,NA12045,NA12154,NA12249,NA12717,NA12749,NA12750,NA12751,NA12828,NA18504,NA18542,NA18545,NA18547,NA18558,NA18561,NA18563,NA18564,NA18566,NA18571,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18907,NA18942,NA18945,NA18948,NA18949,NA18952,NA18965,NA19116,NA19172 esv1493393 12 59824220 59824220 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743151 S 2 1 0 "" HuRef esv34273 12 59846251 59889800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978375,essv6986597,essv6978376 M 771 1 0 "" NA19012 essv3928 12 59846251 59898285 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv268118 12 59850684 59851005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500471,essv2503340,essv2513002,essv2497800,essv2511273,essv2508191,essv2508695,essv2510070,essv2496048,essv2504911,essv2505581 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18542,NA18547,NA18555,NA18570,NA18579,NA18592,NA18593,NA18603,NA18942,NA19005 esv2653283 12 59866503 59867830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348722 S 1 0 1 "" NA18507 essv1541 12 59868562 59898818 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19012 nsv736 12 59964351 59995866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10870 S 9 1 0 "" NA18956 nsv899148 12 59989674 60072835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556644 S 6533 0 1 "" MS22104 esv271847 12 59990385 59990710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576021,essv2540884,essv2546475,essv2521367,essv2542422,essv2523070,essv2570908,essv2545332,essv2523458,essv2577533,essv2570740,essv2521475,essv2576685,essv2550698,essv2550483,essv2535187,essv2554015,essv2552155,essv2547381,essv2529279,essv2564483,essv2577895,essv2553713,essv2565246,essv2537191,essv2528558,essv2546825,essv2520948,essv2557340,essv2557080,essv2552409,essv2551722,essv2532149,essv2569428,essv2578771,essv2550197,essv2537167,essv2539144,essv2527398,essv2561436,essv2523761,essv2552830,essv2541427,essv2542789,essv2540235,essv2524685,essv2565056,essv2561299,essv2539690,essv2549148,essv2519776,essv2522285,essv2531035,essv2529047,essv2541590,essv2563787,essv2553382,essv2535872,essv2572464,essv2559182,essv2566936,essv2541896,essv2550869,essv2568997,essv2543624,essv2556205,essv2528123,essv2562538,essv2578356,essv2555287,essv2533544,essv2566485,essv2529982,essv2534196,essv2522446,essv2531456,essv2573426,essv2577182,essv2572015,essv2525583,essv2529536,essv2575744,essv2538497,essv2526645,essv2560644,essv2523990,essv2574813,essv2530350,essv2568596,essv2545214,essv2560259,essv2549704,essv2571534,essv2546121,essv2574395,essv2551562,essv2536237,essv2538031,essv2533337,essv2554698,essv2547859,essv2563310,essv2557970 M 157 103 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11919,NA11931,NA11993,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12489,NA12717,NA12749,NA12751,NA12761,NA12763,NA12812,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18571,NA18573,NA18579,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18943,NA18944,NA18948,NA18949,NA18959,NA18960,NA18961,NA18964,NA18970,NA18973,NA18980,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272987 12 59990385 59990710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582042,essv2582351,essv2582818,essv2584222,essv2584753,essv2583461 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1411329 12 59990402 59990402 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760601 S 2 1 0 "" HuRef esv1003804 12 60022802 60023071 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569854 S 3 0 1 "" HuRef esv1695627 12 60022803 60023073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324099 S 2 0 1 "" HuRef dgv516e1 12 60060452 60082655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25127,esv1248 M 271 0 0 "" NA10856 nsv899149 12 60094417 60165966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581544 S 6533 0 1 "" IS35622 nsv832434 12 60110186 60319893 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449865 S 95 1 0 "" esv274459 12 60124748 60125086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580585,essv2579036,essv2579419 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270603 12 60124755 60125072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576034,essv2571766,essv2521114,essv2526149,essv2542253,essv2522963,essv2570791,essv2523148,essv2577277,essv2548624,essv2550547,essv2535364,essv2544234,essv2552232,essv2577843,essv2559529,essv2576317,essv2564211,essv2528565,essv2520868,essv2556927,essv2552456,essv2532224,essv2550088,essv2558707,essv2552802,essv2540537,essv2524580,essv2564910,essv2534714,essv2561255,essv2549245,essv2522059,essv2566149,essv2532862,essv2528875,essv2541745,essv2535651,essv2572494,essv2566816,essv2551151,essv2578359,essv2573040,essv2533662,essv2555575,essv2530030,essv2573765,essv2573595,essv2577039,essv2571870,essv2575782,essv2575147,essv2538760,essv2524280,essv2568547,essv2560442,essv2549645,essv2571428,essv2545724,essv2574215,essv2551620,essv2535982,essv2554418,essv2563220 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA10847,NA11830,NA11840,NA11894,NA11918,NA11919,NA11931,NA11993,NA12004,NA12043,NA12045,NA12155,NA12249,NA12414,NA12489,NA12761,NA12776,NA12814,NA12828,NA12891,NA18498,NA18501,NA18502,NA18505,NA18511,NA18516,NA18542,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18571,NA18572,NA18576,NA18579,NA18592,NA18608,NA18609,NA18853,NA18858,NA18940,NA18942,NA18944,NA18945,NA18949,NA18951,NA18964,NA18970,NA18973,NA19099,NA19102,NA19108,NA19129,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv899150 12 60141667 60187685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516740 S 6533 0 1 "" SP56926 nsv520898 12 60365037 60401432 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697676 S 2026 1 0 FAM19A2 nsv899151 12 60394915 60513873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593862 S 6533 0 1 FAM19A2 IS39530 dgv291n67 12 60403070 60476749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826403,nsv826402 M 31 0 2 FAM19A2 NA18969,NA18973 esv27603 12 60486092 60497244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11147 S 451 0 3 FAM19A2 NA18523,NA18909,NA18916 esv2421373 12 60488837 60497087 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5062968,essv5018562,essv5007871,essv5005972,essv5047524,essv5069950,essv5149069,essv5111881,essv5049728,essv5005748,essv5091228,essv5052672,essv5146250,essv5026475,essv5031838,essv5081291,essv5118632,essv5054727,essv5047967,essv5130246,essv5093980,essv5082614,essv5033108,essv5026799,essv5144092,essv5059417,essv5040370,essv5088273,essv5063855,essv5073034,essv5088586,essv5136462,essv5101994,essv5004937,essv5037323,essv5012374,essv5121239,essv5052642,essv5091237 M 1184 0 39 FAM19A2 NA18852,NA18854,NA18909,NA18911,NA18916,NA18917,NA19131,NA19141,NA19149,NA19151,NA19171,NA19172,NA19173,NA19197,NA19198,NA19199,NA19200,NA19214,NA19215,NA19248,NA19317,NA19334,NA19375,NA19376,NA19428,NA19457,NA19470,NA19472,NA19904,NA19909,NA19917,NA19919,NA20291,NA20349,NA20350,NA20357,NA21415,NA21574,NA21575 nsv442272 12 60488837 60497087 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM19A2 nsv514672 12 60488888 60497056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628151 S 1414 0 0 FAM19A2 nsv516147 12 60557385 60558836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674274,nssv683430,nssv670025,nssv666472,nssv691182,nssv674630 M 2026 0 6 FAM19A2 esv2572564 12 60581081 60582600 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379835 S 1 0 1 FAM19A2 NA18507 dgv10e194 12 60581115 60581687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1970267,esv1922664 M 1 0 1 FAM19A2 NA18507 esv3192 12 60581282 60581564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25633 S 1 0 1 Single Asian sample YH FAM19A2 YH esv1006216 12 60581298 60581483 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574697 S 3 0 1 FAM19A2 HuRef esv1703729 12 60581312 60581498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281676 S 2 0 1 FAM19A2 HuRef nsv53083 12 60621488 60627549 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71661 M 24 FAM19A2 nsv737 12 60654154 60687700 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9035 S 9 1 0 FAM19A2 NA12156 nsv899152 12 60656496 60676891 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545028 S 6533 1 0 FAM19A2 MS16643 esv2633161 12 60679783 60681353 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315812 S 1 0 1 FAM19A2 NA18507 esv2028037 12 60680040 60680956 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802960 S 1 0 1 FAM19A2 NA18507 esv5428 12 60680195 60680829 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27869 S 1 0 1 Single Asian sample YH FAM19A2 YH esv23013 12 60680247 60680746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16499 S 451 0 1 FAM19A2 NA12006 esv6636 12 60680250 60680763 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29077 S 1 0 1 FAM19A2 SJK nsv832435 12 60693267 60888102 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449867,nssv1449866 M 95 2 0 FAM19A2 esv274206 12 60703622 60703957 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584655,essv2583567 M 7 2 0 Samples from several populations that are part of the HapMap project. FAM19A2 NA19239,NA19240 esv268674 12 60703623 60703956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565893,essv2556488,essv2525332,essv2544307,essv2520365,essv2547226,essv2565469,essv2539968,essv2556928,essv2569785,essv2527368,essv2523810,essv2539518,essv2549408,essv2522253,essv2528160,essv2562180,essv2539472,essv2534047,essv2575466,essv2523954,essv2572795,essv2549840,essv2546092,essv2574160,essv2554747,essv2547724 M 157 27 0 Samples from several populations that are part of the HapMap project. FAM19A2 NA07346,NA07347,NA11829,NA11994,NA12156,NA12414,NA12716,NA12717,NA12812,NA18489,NA18501,NA18520,NA18522,NA18537,NA18563,NA18564,NA18571,NA18907,NA18909,NA18912,NA18916,NA19099,NA19129,NA19143,NA19225,NA19239,NA19240 nsv899153 12 61002597 61104003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582989 S 6533 0 1 USP15 IS36219 nsv738 12 61015037 61050361 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4028 S 9 1 0 USP15 NA12878 nsv469417 12 61037509 61088910 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544281 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations USP15 HGDP00461 dgv1431n71 12 61051176 61104003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899154,nsv899155 M 6533 0 2 USP15 MS15749,SP57367 dgv1432n71 12 61070234 61129887 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899156,nsv899157 M 6533 0 2 USP15 IS31145,IS35189 dgv1433n71 12 61070234 61231512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899158,nsv899159 M 6533 0 2 MON2,USP15 IS35911,IS39011 nsv821671 12 61080571 61294231 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421245 S 31 0 1 C12orf61,MIRLET7I,MON2,USP15 nsv739 12 61152602 61187718 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1092 S 9 1 0 MON2 NA19240 esv268651 12 61166281 61166366 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514574,essv2518711,essv2518585,essv2515869,essv2517826 M 157 5 0 Samples from several populations that are part of the HapMap project. MON2 NA11840,NA12045,NA12287,NA12873,NA12878 esv274602 12 61166281 61166366 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581524 S 7 1 0 Samples from several populations that are part of the HapMap project. MON2 NA12878 nsv469418 12 61179466 61245404 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544282 S 1557 0 1 MON2 1780862194_A nsv740 12 61276848 61288601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9036 S 9 1 0 C12orf61,MIRLET7I,MON2 NA12156 esv2558829 12 61278945 61280406 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295537 S 1 0 1 "" NA18507 dgv30e180 12 61309385 61309445 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1011197,esv998291 M 3 0 1 "" HuRef nsv53806 12 61316789 61319671 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72384 M 24 "" nsv741 12 61324522 61351113 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9037 S 9 0 1 PPM1H NA12156 nsv527742 12 61364450 61370579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704227 S 2026 0 1 PPM1H nsv516508 12 61366498 61370579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682570,nssv670448,nssv668753,nssv688786,nssv670876 M 2026 0 5 PPM1H nsv524555 12 61366498 61372858 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700509 S 2026 1 0 PPM1H nsv899160 12 61435480 61495890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552136 S 6533 0 1 PPM1H MS19226 esv2485179 12 61517882 61519305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234118 S 1 0 1 PPM1H NA18507 esv2286763 12 61518505 61519183 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874306 S 1 0 1 PPM1H NA18507 esv5185 12 61518606 61519162 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27626 S 1 0 1 Single Asian sample YH PPM1H YH nsv53660 12 61518669 61518996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72238 M 24 PPM1H nsv899161 12 61561284 61597415 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545029 S 6533 1 0 PPM1H MS16643 esv271564 12 61563933 61564018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513984,essv2518340 M 157 2 0 Samples from several populations that are part of the HapMap project. PPM1H NA19143,NA19240 esv272708 12 61563933 61564018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581153 S 7 1 0 Samples from several populations that are part of the HapMap project. PPM1H NA19240 nsv899162 12 61566017 61620509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585740 S 6533 0 1 PPM1H IS37639 nsv899163 12 61574610 61612255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581728 S 6533 0 1 PPM1H IS35701 esv2263685 12 61625591 61626013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796533 S 1 0 1 "" NA18507 esv1555255 12 61625807 61625856 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636557 S 2 0 1 "" HuRef esv2751108 12 61732200 61790219 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988806,essv6984458,essv6984459,essv6984460 M 771 1 0 "" BEC_708 nsv469592 12 61772777 61965406 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649707 M 265 0 6 Samples from several populations that are part of the HapMap project. AVPR1A esv9062 12 61790218 61790307 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31503 S 1 1 0 "" SJK nsv832436 12 61790260 61944379 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449868 S 95 1 0 AVPR1A nsv899164 12 61826743 61897900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568990 S 6533 0 1 AVPR1A IS31385 dgv1434n71 12 61832253 61927908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899165,nsv899166 M 6533 0 2 AVPR1A IS35788,IS41982 esv269563 12 61855402 61855487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514185,essv2518250 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA19240 esv273362 12 61855402 61855487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581095 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv832438 12 61857919 62032094 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449869 S 95 1 0 "" nsv8980 12 61861674 61866178 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21329 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv26788 12 61862371 61862965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15224 S 451 0 1 "" NA18511 esv8760 12 61863798 61893584 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31201 S 1 0 1 "" SJK esv2462113 12 61898154 61899590 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286380 S 1 0 1 "" NA18507 esv2652772 12 61916056 61917114 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223487 S 1 1 0 "" NA18507 esv269086 12 61916719 61917059 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540771,essv2521090,essv2544052,essv2523288,essv2554308,essv2544497,essv2552017,essv2577839,essv2530681,essv2528527,essv2540038,essv2520772,essv2557282,essv2551848,essv2532080,essv2562755,essv2569298,essv2549985,essv2558825,essv2537094,essv2539113,essv2569625,essv2527144,essv2561410,essv2562972,essv2523716,essv2538339,essv2542783,essv2540612,essv2565103,essv2560028,essv2567495,essv2570326,essv2542005,essv2550894,essv2569069,essv2556151,essv2527862,essv2534163,essv2572953,essv2573713,essv2543311,essv2529754,essv2575446,essv2575232,essv2526496,essv2560689,essv2524117,essv2560946,essv2574942,essv2530409,essv2572864,essv2568689,essv2560430,essv2549793,essv2571500,essv2545734,essv2574430,essv2551457 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11894,NA11992,NA12004,NA12287,NA12414,NA12489,NA12761,NA12873,NA12891,NA18489,NA18498,NA18499,NA18504,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18547,NA18550,NA18552,NA18558,NA18570,NA18582,NA18593,NA18856,NA18858,NA18861,NA18871,NA18907,NA18916,NA18942,NA18964,NA18965,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272843 12 61916722 61917060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582709,essv2584344,essv2584795,essv2583387 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 nsv832439 12 61974350 62151493 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449870 S 95 1 0 "" esv2590491 12 61984970 61985142 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315947 S 1 1 0 "" NA18507 nsv742 12 62016212 62048863 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6512 S 9 1 0 "" NA12156 esv994917 12 62042682 62050011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563926 S 3 0 1 "" HuRef esv2422401 12 62064794 62303324 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161331 S 181 1 0 DPY19L2 ND05052 nsv899167 12 62081496 62193159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574295 S 6533 0 1 "" IS33533 nsv832440 12 62114074 62283191 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449871 S 95 0 1 DPY19L2 nsv826404 12 62150172 62155626 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427760 S 31 0 1 "" AK8 nsv469419 12 62153194 62202949 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544283 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01400 nsv524092 12 62155425 62159243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699965 S 2026 0 1 "" dgv201n27 12 62181589 62426038 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469421,nsv469420,nsv469422,nsv469423 M 1557 4 0 DPY19L2 HGDP00520,HGDP00708,HGDP00726,HGDP00739 nsv8981 12 62183601 62192660 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21578,nssv21579 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740 essv25168 12 62188068 62438880 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DPY19L2 NA11840 dgv517e1 12 62188068 62538439 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv630,essv19452,essv21416 M 271 0 0 DPY19L2,SRGAP1,TMEM5 NA11840,NA12717 dgv71e55 12 62188218 62406115 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34725,esv2751109 M 771 2 0 DPY19L2 BEC_362,NA12717 nsv899168 12 62202949 62341184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566953,nssv1571636 M 6533 0 2 DPY19L2 IS31022,IS32763 dgv1435n71 12 62202949 62404825 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899169,nsv899176,nsv899177,nsv899179,nsv899187,nsv899198,nsv899192,nsv899193,nsv899195,nsv899178,nsv899188 M 6533 12 0 DPY19L2 IS33837,IS34304,IS35053,IS38616,IS39321,IS40582,MS11307,MS18784,MS18886,SP51259,SP54402,SP57113 dgv1436n71 12 62202949 62442690 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899184,nsv899170,nsv899183,nsv899182,nsv899190,nsv899189,nsv899194,nsv899199 M 6533 18 0 DPY19L2 IS30228,IS30302,IS37030,IS37550,IS39258,IS39940,IS41331,MS10061,MS11693,MS12648,MS14336,MS14769,MS16325,MS17275,MS18588,MS24476,MS25690,SP56862 nsv516374 12 62202949 62454380 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661067,nssv668471,nssv666691,nssv657234,nssv664451,nssv685289,nssv664755,nssv666431,nssv662269,nssv657041,nssv678139,nssv681868,nssv674713,nssv681154,nssv691370,nssv679373,nssv698993,nssv668583,nssv661402,nssv674998,nssv652455,nssv672728,nssv691220,nssv654666,nssv676576,nssv689484,nssv689169,nssv689718,nssv665724,nssv688150,nssv672104,nssv681594,nssv677523,nssv663317,nssv665820,nssv691371,nssv692026,nssv662651,nssv652842,nssv666779,nssv671392,nssv682416,nssv676634,nssv682726,nssv670731,nssv700589,nssv692868,nssv685198,nssv667312,nssv689394,nssv667892,nssv692114,nssv669528,nssv654606,nssv653280,nssv692669 M 2026 40 16 DPY19L2 nsv899171 12 62202949 62488500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582230 S 6533 0 1 DPY19L2,TMEM5 IS35862 nsv436145 12 62211137 62407940 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466709 S 2 0 1 Samples from several populations that are part of the HapMap project. DPY19L2 NA18505 nsv8982 12 62216521 62218607 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26031 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv33383 12 62217008 62427366 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97055,essv93762,essv100321,essv98424 M 51 1 3 DPY19L2 21817,21972,22300,22352 nsv899172 12 62218146 62308101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514190 S 6533 1 0 DPY19L2 SP55970 dgv1437n71 12 62218146 62348391 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899174,nsv899175,nsv899173,nsv899186,nsv899185 M 6533 5 0 DPY19L2 IS35240,IS38367,IS40879,MS24798,SP50989 dgv1438n71 12 62218146 62426038 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv899180,nsv899181,nsv899196 M 6533 24 7 DPY19L2 IS32079,IS32805,IS33240,IS33559,IS33696,IS34439,IS35222,IS35777,IS38840,IS39626,IS40124,IS40226,IS40944,IS41034,IS41905,MS10545,MS12606,MS13567,MS13744,MS14761,MS17097,MS17363,MS26050,SP50532,SP51339,SP52057,SP53516,SP54226,SP54478,SP54681,SP58558 nsv8983 12 62225477 62347631 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20656 S 31 1 0 Samples from several populations that are part of the HapMap project. DPY19L2 NA18552 nsv442273 12 62225991 62406909 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DPY19L2 esv2751110 12 62226000 62560947 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988840,essv6987660,essv6984722 M 771 1 0 DPY19L2,SRGAP1,TMEM5 SPC_169 nsv470300 12 62226006 62426038 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546952,nssv546951,nssv546959,nssv546963,nssv546957,nssv546961,nssv546953,nssv546958,nssv546962,nssv546955,nssv546960,nssv546956 M 443 12 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPY19L2 HGDP00475,HGDP00632,HGDP00693,HGDP00708,HGDP00906,HGDP00907,HGDP00917,HGDP00943,HGDP00944,HGDP00992,HGDP01301,HGDP01405 nsv469424 12 62226007 62369568 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544288 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPY19L2 HGDP00683 dgv202n27 12 62226007 62426038 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469432,nsv469426,nsv469447,nsv469436,nsv469428,nsv469431,nsv469425,nsv469446,nsv469435,nsv469450,nsv469433,nsv469443,nsv469444,nsv469448,nsv469429,nsv469437,nsv469430,nsv469434 M 1557 18 0 DPY19L2 1780854176_A,1780854196_A,1780854219_A,1780862197_A,1780862547_A,1782681142_A,HGDP00173,HGDP00475,HGDP00526,HGDP00632,HGDP00667,HGDP00693,HGDP00906,HGDP00907,HGDP00917,HGDP00943,HGDP01074,HGDP01301 dgv203n27 12 62226007 62426038 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469442,nsv469441,nsv469439,nsv469445,nsv469440 M 1557 0 5 DPY19L2 1780862565_A,1782681316_A,HGDP00039,NINDS_205,NINDS_7 dgv1439n71 12 62229263 62435806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899191,nsv899197 M 6533 0 2 DPY19L2 IS33211,SP54635 esv24108 12 62233225 62361392 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11529 S 451 1 0 DPY19L2 NA12239 esv1972948 12 62236263 62236672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702685 S 1 0 1 "" NA18507 esv2751111 12 62261464 62406115 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990042,essv6984920 M 771 0 1 DPY19L2 SPC_194 essv18897 12 62261464 62431798 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DPY19L2 NA12717 nsv899200 12 62287447 62426038 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556288 S 6533 0 1 DPY19L2 MS21891 nsv436142 12 62309072 62314918 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466710 S 2 0 1 Samples from several populations that are part of the HapMap project. DPY19L2 NA18505 dgv1440n71 12 62314278 62441479 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899202,nsv899201 M 6533 2 0 DPY19L2 IS37214,SP55386 dgv204n27 12 62338144 62404825 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469451,nsv469453 M 1557 0 2 DPY19L2 HGDP00237,NINDS_53 nsv469452 12 62338144 62415375 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544316 S 1557 1 0 DPY19L2 NINDS_125 dgv1441n71 12 62341184 62426038 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv899206,nsv899203 M 6533 6 3 DPY19L2 IS31022,IS35240,IS35277,IS36563,IS37062,MS10443,MS10636,MS24798,SP57736 nsv745 12 62343342 62374404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5429 S 9 1 0 DPY19L2 NA19129 nsv899204 12 62343531 62395106 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514191 S 6533 1 0 DPY19L2 SP55970 nsv832441 12 62350043 62538439 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449872 S 95 0 1 SRGAP1,TMEM5 nsv899205 12 62354365 62422121 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501870 S 6533 1 0 "" SP50989 nsv469454 12 62368487 62422121 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544318 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01065 dgv1442n71 12 62368487 62441479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899208,nsv899207 M 6533 0 2 "" SP50882,SP52369 nsv8984 12 62419885 62425202 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24318 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv746 12 62475711 62521233 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6513 S 9 0 1 TMEM5 NA12156 nsv832442 12 62514338 62729038 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449874 S 95 1 0 SRGAP1 esv29938 12 62523587 62524472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11721 S 451 0 1 "" NA07045 nsv507648 12 62585554 62591554 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617833,nssv619075 M 4 2 0 SRGAP1 CHM,NA10860 nsv519341 12 62621845 62622045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696801 S 2026 0 1 SRGAP1 esv2577852 12 62662557 62664029 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341464 S 1 0 1 SRGAP1 NA18507 nsv747 12 62677839 62710265 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5430 S 9 0 1 SRGAP1 NA19129 nsv437756 12 62678767 62698137 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467637 S 60 0 1 Samples from several populations that are part of the HapMap project. SRGAP1 NA19129 nsv498794 12 62685675 62692136 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585655 S 9 0 1 SRGAP1 esv25312 12 62685746 62691573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15842 S 451 0 1 SRGAP1 NA19129 nsv515618 12 62685998 62690201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680037,nssv664120,nssv680423,nssv678786 M 2026 0 4 SRGAP1 nsv442274 12 62687505 62691702 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SRGAP1 nsv438217 12 62688136 62690201 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470477,nssv470478 M 269 0 2 Samples from several populations that are part of the HapMap project. SRGAP1 NA19127,NA19129 esv33314 12 62743742 62744047 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98718 S 51 0 1 SRGAP1 21606 esv1536875 12 62884108 62884108 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137069 S 2 1 0 C12orf66 HuRef nsv469456 12 62996986 63035639 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544319 S 1557 0 1 C12orf56 1780854459_A nsv517246 12 63007487 63010798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664684,nssv654116 M 2026 0 2 C12orf56 esv1457683 12 63046386 63046629 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652840 S 2 0 1 C12orf56 HuRef nsv832443 12 63165123 63343532 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449875 S 95 0 1 RASSF3,TBK1 nsv832444 12 63267751 63454739 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449876 S 95 0 1 GNS,RASSF3 esv2446886 12 63303436 63305279 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178248 S 1 0 1 RASSF3 NA18507 esv2387704 12 63303573 63304892 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514990 S 1 0 1 RASSF3 NA18507 nsv515833 12 63304111 63304459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669864,nssv671468,nssv656857,nssv656965,nssv661671,nssv679189,nssv664942,nssv680038,nssv684564,nssv677018,nssv680878,nssv686860 M 2026 0 12 RASSF3 nsv818921 12 63304111 63304459 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418199,nssv1418200 M 112 0 2 RASSF3 NA19143,NA19145 nsv438218 12 63304111 63323750 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470479,nssv470480 M 269 0 2 Samples from several populations that are part of the HapMap project. RASSF3 NA19143,NA19145 dgv1443n71 12 63354953 63470503 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899210,nsv899209 M 6533 0 5 GNS,RASSF3 IS32891,IS37639,MS20041,MS20359,MS20440 nsv524627 12 63368597 63377298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700590 S 2026 0 1 RASSF3 esv2494968 12 63420595 63421963 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311452 S 1 0 1 GNS NA18507 esv2089729 12 63420897 63421467 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936124 S 1 0 1 GNS NA18507 esv2939 12 63421073 63421341 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25380 S 1 0 1 Single Asian sample YH GNS YH esv2586961 12 63421107 63421282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207933 S 1 0 1 GNS NA18507 esv997045 12 63463894 63463894 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577975 S 3 1 0 "" HuRef esv1020820 12 63463900 63463900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783170 S 2 1 0 "" HuRef nsv52978 12 63520076 63525773 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71556 M 24 TBC1D30 nsv748 12 63592478 63625960 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1093 S 9 1 0 FLJ41278 NA19240 nsv469458 12 63677987 63823937 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544320 S 1557 1 0 WIF1 NINDS_198 nsv510299 12 63736281 63742281 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618366,nssv621386,nssv622215,nssv624119 M 4 0 4 WIF1 CHM,NA10860,NA15510,NA18994 esv270577 12 63746959 63747300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494235,essv2509721,essv2507064,essv2513417,essv2501369,essv2504658,essv2497522,essv2510410 M 157 8 0 Samples from several populations that are part of the HapMap project. WIF1 NA18502,NA18508,NA18870,NA18907,NA19093,NA19099,NA19147,NA19172 nsv832445 12 63787154 63973778 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449877 S 95 1 0 LEMD3,MSRB3,WIF1 nsv522671 12 63924685 63926294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706076 S 2026 0 1 LEMD3 nsv749 12 63973341 63976152 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5432 S 9 1 0 MSRB3 NA19129 nsv899211 12 64019812 64205741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545030 S 6533 1 0 MSRB3 MS16643 nsv513363 12 64104924 64105578 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625756 S 1 1 0 MSRB3 1 esv1479608 12 64105082 64105082 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277099 S 2 1 0 MSRB3 HuRef nsv750 12 64119644 64165347 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6514 S 9 0 1 MSRB3 NA12156 nsv751 12 64138725 64172039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4029 S 9 1 0 MSRB3 NA12878 nsv752 12 64177908 64186235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4629 S 9 0 1 "" NA19129 nsv753 12 64195337 64222998 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9039 S 9 0 1 "" NA12156 esv23857 12 64256232 64264456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15949 S 451 0 2 "" NA18508,NA18861 nsv826405 12 64259325 64264665 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436949 S 31 0 1 "" NA18542 nsv826406 12 64289401 64355154 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441434 S 31 0 1 "" NA18969 nsv899212 12 64295164 64339959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572222,nssv1575465 M 6533 0 2 "" IS32891,IS33747 nsv510300 12 64322210 64328210 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624120 S 4 0 1 "" NA18994 dgv97n21 12 64401468 64417330 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518448,nsv526184 M 2026 0 2 "" nsv515887 12 64407529 64417330 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686736,nssv675280,nssv658361,nssv683533,nssv679871,nssv674362,nssv665515,nssv674453,nssv665144 M 2026 0 9 "" esv275418 12 64453921 64465015 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585835,essv2585924 M 1250 1 1 RPSAP52 esv2614260 12 64492376 64494007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259295 S 1 0 1 RPSAP52 NA18507 esv2210361 12 64493171 64493816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672348 S 1 0 1 RPSAP52 NA18507 nsv507649 12 64500740 64506740 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619076 S 4 1 0 HMGA2,RPSAP52 NA10860 esv8071 12 64585420 64585494 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30512 S 1 1 0 HMGA2 SJK nsv899213 12 64676235 64786303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545031 S 6533 1 0 "" MS16643 nsv832446 12 64680130 64787751 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449879,nssv1449878 M 95 1 1 "" esv1953620 12 64737466 64737906 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538288 S 1 0 1 "" NA18507 esv1583014 12 64737659 64737729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609441 S 2 0 1 "" HuRef esv1028216 12 64748956 64749031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008408 S 2 0 1 "" HuRef nsv899214 12 64802959 64843227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554455 S 6533 0 1 LLPH,TMBIM4 MS20813 esv1009248 12 64812215 64816530 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565512 S 3 0 1 "" HuRef esv2607781 12 64813085 64816664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339644 S 1 0 1 "" NA18507 esv2318656 12 64813738 64816386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613661 S 1 0 1 "" NA18507 esv5264 12 64813858 64816236 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27705 S 1 0 1 Single Asian sample YH "" YH nsv512280 12 64813869 64816137 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624857 S 1 0 1 "" 1 nsv498795 12 64813902 64816645 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585656 S 9 0 1 "" esv8872 12 64813907 64816137 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31313 S 1 0 1 "" SJK esv1008035 12 64813909 64816149 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576035 S 3 0 1 "" HuRef esv1215925 12 64813918 64816159 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854865 S 2 0 1 "" HuRef nsv526076 12 64827573 64832367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702317 S 2026 0 1 TMBIM4 nsv899215 12 64843227 64880401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506820 S 6533 0 1 IRAK3,TMBIM4 SP54407 nsv899216 12 64850102 65003111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505742 S 6533 1 0 HELB,IRAK3 SP53885 esv29230 12 64895490 64896101 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20613 S 451 0 1 IRAK3 NA18861 esv7862 12 64927905 64927958 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30303 S 1 1 0 IRAK3 SJK esv2168736 12 64964620 64965063 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500369 S 1 0 1 "" NA18507 esv24958 12 65042529 65043086 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17240 S 451 0 1 GRIP1 NA18523 nsv832447 12 65072081 65276296 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449880 S 95 1 0 GRIP1 esv27571 12 65078248 65080389 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15434 S 451 0 1 GRIP1 NA18523 nsv518043 12 65102406 65102768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695454 S 2026 0 1 GRIP1 nsv469459 12 65140621 65236556 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544321 S 1557 1 0 GRIP1 1782681262_A nsv522810 12 65145843 65146355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698456 S 2026 0 1 GRIP1 nsv832449 12 65172086 65356220 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449881 S 95 1 0 GRIP1 esv33058 12 65181676 65197429 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94440,essv96907 M 51 0 2 GRIP1 21808,21817 nsv8985 12 65191605 65193019 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22983 S 31 1 0 Samples from several populations that are part of the HapMap project. GRIP1 NA18504 dgv518e1 12 65191672 65266447 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20512,esv1300 M 271 0 0 GRIP1 NA12716 esv273201 12 65192595 65192924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584228,essv2583755 M 7 2 0 Samples from several populations that are part of the HapMap project. GRIP1 NA19238,NA19240 esv268302 12 65192596 65192923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540793,essv2571635,essv2546227,essv2521210,essv2526155,essv2521815,essv2535108,essv2544550,essv2577785,essv2557213,essv2569491,essv2539195,essv2527125,essv2561307,essv2544927,essv2540507,essv2534782,essv2549323,essv2559823,essv2572538,essv2543406,essv2527882,essv2539319,essv2555490,essv2575139,essv2526732,essv2524238,essv2549909,essv2571421,essv2574470,essv2537862,essv2533408,essv2524990 M 157 33 0 Samples from several populations that are part of the HapMap project. GRIP1 NA07000,NA07051,NA07357,NA11831,NA11840,NA11881,NA11894,NA11918,NA12144,NA12249,NA12414,NA12761,NA18501,NA18508,NA18519,NA18522,NA18523,NA18526,NA18552,NA18561,NA18564,NA18570,NA18609,NA18870,NA18907,NA18912,NA18945,NA19102,NA19114,NA19129,NA19225,NA19238,NA19240 esv28890 12 65194926 65195494 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13995 S 451 0 2 GRIP1 NA11995,NA18909 nsv518007 12 65208873 65221347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695420 S 2026 0 1 GRIP1 esv34782 12 65219809 65257665 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978817,essv6988054 M 771 0 1 GRIP1 NA12716 esv8138 12 65243687 65243865 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30579 S 1 0 0 GRIP1 SJK nsv442275 12 65249567 65257291 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GRIP1 esv24259 12 65281072 65281568 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19552 S 451 1 0 GRIP1 NA11931 nsv53367 12 65285113 65290251 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71945 M 24 GRIP1 nsv469461 12 65293337 65324862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544323 S 1557 0 1 GRIP1 1788485588_A esv270552 12 65297817 65298160 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565589,essv2576120,essv2546389,essv2542272,essv2570847,essv2556741,essv2545680,essv2523096,essv2531998,essv2570478,essv2548357,essv2550735,essv2525252,essv2535461,essv2529186,essv2578102,essv2553869,essv2559639,essv2530527,essv2537256,essv2528574,essv2546922,essv2557451,essv2532293,essv2536824,essv2527141,essv2544855,essv2564848,essv2549433,essv2560010,essv2563843,essv2556132,essv2525638,essv2575517,essv2538722,essv2523989,essv2548164,essv2551458,essv2548650,essv2533321,essv2557814 M 157 41 0 Samples from several populations that are part of the HapMap project. GRIP1 NA07037,NA07051,NA10851,NA11829,NA11830,NA11881,NA11919,NA11993,NA11994,NA12003,NA12004,NA12006,NA12044,NA12045,NA12155,NA12156,NA12249,NA12749,NA12761,NA12763,NA12776,NA12873,NA12878,NA12891,NA12892,NA18499,NA18505,NA18517,NA18522,NA18526,NA18558,NA18564,NA18570,NA18603,NA18871,NA18980,NA19099,NA19108,NA19129,NA19210,NA19257 esv273038 12 65297818 65298161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581845,essv2582573,essv2583257 M 7 3 0 Samples from several populations that are part of the HapMap project. GRIP1 NA12878,NA12891,NA12892 nsv527057 12 65335516 65337492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703434 S 2026 0 1 GRIP1 esv3171 12 65403220 65403442 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25612 S 1 0 1 Single Asian sample YH "" YH esv1708962 12 65403274 65403340 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623835 S 2 0 1 "" HuRef nsv53335 12 65403275 65403357 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71913 M 24 "" esv272177 12 65506711 65507115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580893,essv2579173 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv269747 12 65506768 65507109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494136,essv2502939,essv2509821,essv2501110,essv2498642,essv2507203,essv2494088,essv2513329,essv2509264,essv2507302,essv2506911,essv2506428,essv2498671,essv2497039,essv2501829,essv2498208,essv2502088 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18507,NA18508,NA18516,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA19102,NA19108,NA19138,NA19190,NA19239,NA19240,NA19257 nsv523387 12 65521240 65524668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699136 S 2026 0 1 "" esv1994025 12 65539114 65539536 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723720 S 1 0 1 "" NA18507 esv24563 12 65582225 65587581 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17595 S 451 1 0 "" NA18907 nsv826407 12 65583442 65583910 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436950 S 31 1 0 "" NA18542 nsv754 12 65588927 65609827 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10871 S 9 1 0 "" NA18956 nsv521008 12 65591544 65608881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697733 S 2026 0 1 "" nsv525987 12 65623079 65680675 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702209 S 2026 1 0 "" esv2453313 12 65729330 65730497 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291623 S 1 1 0 "" NA18507 esv2652881 12 65730066 65730642 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182759 S 1 0 0 "" NA18507 nsv899217 12 65758898 65788254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504172 S 6533 1 0 "" SP52270 esv2470717 12 65822515 65823984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225243 S 1 0 1 "" NA18507 esv2110585 12 65822904 65823500 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715634 S 1 0 1 "" NA18507 esv267984 12 65845819 65847522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500371 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv899218 12 65898396 65930107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503520 S 6533 0 1 "" SP52077 nsv53199 12 65919174 65919174 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71777 M 24 "" nsv525023 12 65959137 65994936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701062 S 2026 0 1 CAND1 esv259573 12 65964643 65964936 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394232,essv2393764 M 6 0 0 Samples from several populations that are part of the HapMap project. CAND1 NA12878,NA19238 esv259775 12 65964666 65964940 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397286,essv2397833,essv2394625,essv2395373,essv2397510,essv2395432,essv2400820,essv2398363,essv2395153,essv2395915 M 144 0 0 Samples from several populations that are part of the HapMap project. CAND1 NA12878,NA18505,NA18870,NA18916,NA18947,NA18948,NA18952,NA19093,NA19108,NA19238 nsv756 12 65989854 66031010 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9040 S 9 0 1 CAND1 NA12156 esv8315 12 65991581 65991634 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30756 S 1 1 0 CAND1 SJK nsv757 12 66007517 66041452 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1094 S 9 1 0 "" NA19240 esv24196 12 66014702 66020020 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16869 S 451 0 2 "" NA18523,NA19114 nsv436140 12 66061402 66065277 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466711 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv27137 12 66213585 66214405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18944 S 451 0 2 "" NA11993,NA15510 nsv52972 12 66213617 66214388 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71550 M 24 "" nsv519668 12 66273454 66273897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687558,nssv657473 M 2026 0 2 "" esv8398 12 66384830 66384887 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30839 S 1 1 0 "" SJK esv2524355 12 66498770 66500182 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211194 S 1 0 1 "" NA18507 nsv899219 12 66579686 66639916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556051 S 6533 0 1 "" MS21771 nsv899220 12 66751976 66817223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600273 S 6533 0 1 "" IS41866 nsv899221 12 66881411 66901467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505584 S 6533 0 1 IL26 SP53687 nsv899222 12 66882150 66905717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503568 S 6533 1 0 IL26 SP52077 nsv899223 12 66890230 66903486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505269 S 6533 0 1 IL26 SP53347 nsv899224 12 66922934 66932242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507596 S 6533 0 1 IL22 SP54620 nsv528191 12 66934584 66940909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704748 S 2026 0 1 "" nsv507650 12 66944044 66950044 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620505,nssv623112 M 4 2 0 "" NA15510,NA18994 esv2480424 12 67001326 67002789 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196345 S 1 0 1 MDM1 NA18507 nsv510301 12 67041398 67047398 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624121 S 4 0 1 "" NA18994 nsv521035 12 67052353 67100206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697747 S 2026 0 1 "" nsv758 12 67124407 67157408 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4030 S 9 1 0 "" NA12878 nsv899225 12 67141501 67172800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545032 S 6533 1 0 "" MS16643 nsv522941 12 67177243 67467110 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698605 S 2026 1 0 LOC100507250,NUP107,RAP1B,SLC35E3,SNORA70G esv267977 12 67270338 67270612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498440,essv2493141,essv2500544,essv2506424 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA18951,NA18956,NA19108 nsv510302 12 67402062 67408062 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624122 S 4 0 1 NUP107 NA18994 nsv759 12 67413689 67458721 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9041 S 9 0 1 NUP107,SLC35E3 NA12156 esv2278507 12 67460931 67461364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979081 S 1 0 1 "" NA18507 esv2439987 12 67461115 67461168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269075 S 1 0 1 "" NA18507 nsv53581 12 67461119 67461172 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72159 M 24 "" esv259557 12 67462353 67462688 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394027 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv259958 12 67462381 67462722 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400631,essv2396164,essv2398348,essv2397035 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18523,NA19093,NA19239 nsv53687 12 67467904 67475248 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72265 M 24 "" nsv899226 12 67495154 67508645 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506866 S 6533 0 1 MDM2 SP54409 esv1668742 12 67513332 67513332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693995 S 2 1 0 MDM2 HuRef nsv512281 12 67541436 67544619 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624858 S 1 0 1 CPM 1 nsv826408 12 67541823 67542775 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433915,nssv1429372,nssv1435356,nssv1424490 M 31 4 0 CPM NA18526,NA18582,NA18942,NA18947 nsv820353 12 67541823 67542783 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421008 S 1 0 1 CPM NA10851 nsv826410 12 67541823 67542783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436115 S 31 0 1 CPM NA18566 esv21511 12 67542035 67542783 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11387 S 451 2 1 CPM NA07037,NA18909,NA19225 nsv52755 12 67542043 67542784 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71333 M 24 CPM nsv899227 12 67557712 67621892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552949 S 6533 0 1 CPM MS19652 nsv523088 12 67597320 67605055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698780 S 2026 0 1 CPM nsv523272 12 67605055 67610710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699006 S 2026 0 1 CPM nsv760 12 67683818 67738565 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5433,nssv4031 M 9 2 0 "" NA12878,NA19129 nsv899228 12 67728323 67799386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556012 S 6533 0 1 "" MS21738 nsv522348 12 67808455 67814045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695128 S 2026 0 1 "" nsv826411 12 67843840 67845059 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440591,nssv1421757,nssv1432343,nssv1431568,nssv1439211,nssv1429335,nssv1424491,nssv1436952,nssv1436116,nssv1430847 M 31 0 10 "" AK12,AK16,AK18,AK20,NA18542,NA18547,NA18564,NA18566,NA18582,NA18973 nsv826412 12 67843840 67846191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428573 S 31 0 1 "" AK10 esv1590047 12 67880789 67880789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872284 S 2 1 0 "" HuRef dgv5e24 12 67961003 67961704 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750620,esv2750489,esv2750742 M 51 0 3 "" 21721,21841,22371 esv2635642 12 67965466 67966674 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218720 S 1 1 0 "" NA18507 esv274472 12 68141821 68141906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581228 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv25606 12 68148410 68149058 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16023 S 451 0 3 "" NA11931,NA12287,NA15510 esv991802 12 68210603 68211235 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587216 S 3 1 0 FRS2 HuRef nsv761 12 68211796 68223114 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10872 S 9 1 0 FRS2 NA18956 nsv524127 12 68308963 68309685 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700005 S 2026 1 0 "" nsv899229 12 68337863 68366420 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589058 S 6533 1 0 BEST3 IS38292 nsv507651 12 68338396 68344396 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620507,nssv617834,nssv619077,nssv623113 M 4 4 0 BEST3 CHM,NA10860,NA15510,NA18994 esv268293 12 68408843 68408970 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506758,essv2495402,essv2504484,essv2499366,essv2501681,essv2505553,essv2510300,essv2495870,essv2508988,essv2495041,essv2504400,essv2513095 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA10847,NA11918,NA11919,NA11993,NA11994,NA12144,NA12154,NA12414,NA12489,NA18522 esv1958700 12 68423696 68424057 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876412 S 1 0 1 RAB3IP NA18507 nsv52529 12 68472621 68476377 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71107 M 24 RAB3IP esv2496466 12 68507007 68508386 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311223 S 1 0 1 "" NA18507 nsv507652 12 68528268 68534268 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619078 S 4 1 0 "" NA10860 esv24930 12 68575998 68577013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19006 S 451 0 4 "" NA06985,NA12414,NA12878,NA18523 nsv507653 12 68615561 68621561 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620508 S 4 1 0 "" NA15510 nsv899230 12 68618094 68705603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585428 S 6533 0 1 "" IS37452 nsv470301 12 68637680 68689573 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546964 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00866 nsv436158 12 68666844 68701517 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466712 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv1444n71 12 68691987 68804103 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899231,nsv899232 M 6533 0 3 "" IS35372,IS39322,IS41802 nsv510303 12 68694984 68700984 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618367 S 4 0 1 "" CHM nsv762 12 68716037 68749258 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5434 S 9 1 0 "" NA19129 nsv529039 12 68716731 68719461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705752 S 2026 0 1 "" nsv515829 12 68727252 68856483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688258,nssv664914 M 2026 0 2 "" esv2045221 12 68773709 68774119 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648029 S 1 0 1 "" NA18507 nsv442276 12 68797034 68805714 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2634446 12 68815226 68816841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172338 S 1 0 1 "" NA18507 nsv899233 12 68869019 68917700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554050 S 6533 0 1 "" MS20563 esv2512287 12 68879379 68884069 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381043 S 1 0 1 "" NA18507 nsv435638 12 68880338 68884264 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466713 S 2 0 1 "" NA15510 nsv512282 12 68880607 68883895 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624859 S 1 0 1 "" 1 esv2006371 12 68880920 68884061 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739035 S 1 0 1 "" NA18507 esv2644146 12 68880994 68885054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266338 S 1 0 1 "" NA18507 esv5164 12 68881085 68883919 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27605 S 1 0 1 Single Asian sample YH "" YH nsv498796 12 68881113 68883863 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585657 S 9 0 1 "" nsv763 12 68894143 68916565 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9042 S 9 0 1 "" NA12156 esv1061540 12 68961920 68961920 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920980 S 2 1 0 CNOT2 HuRef dgv292n67 12 68966081 68968319 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826413,nsv826414 M 31 0 8 CNOT2 AK14,AK16,AK8,NA18566,NA18582,NA18947,NA18951,NA18972 esv267925 12 68966131 68966216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516098 S 157 1 0 Samples from several populations that are part of the HapMap project. CNOT2 NA12873 esv25808 12 68966151 68968162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18628 S 451 0 2 CNOT2 NA11894,NA12004 nsv826415 12 68967234 68968319 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423691 S 31 0 1 CNOT2 NA18999 nsv899235 12 69010320 69057928 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545780 S 6533 1 0 CNOT2,KCNMB4 MS16944 dgv1445n71 12 69010320 69069121 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv899237,nsv899236 M 6533 2 13 CNOT2,KCNMB4 IS30899,IS30923,IS31285,IS31335,IS31837,IS31904,IS32015,IS33832,IS36364,IS36533,IS37065,IS38330,IS41043,MS10802,MS17114 dgv1446n71 12 69010320 69070778 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899239,nsv899238,nsv899234 M 6533 0 3 CNOT2,KCNMB4 IS35229,MS18978,MS20969 esv275582 12 69070182 69071313 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586096 S 1250 0 1 KCNMB4 nsv469463 12 69085071 69120135 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544324 S 1557 1 0 KCNMB4 NINDS_58 nsv899240 12 69099543 69126341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557830 S 6533 1 0 KCNMB4 MS22928 esv993429 12 69107997 69110858 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564193 S 3 0 1 KCNMB4 HuRef nsv764 12 69112295 69145176 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6515 S 9 1 0 KCNMB4 NA12156 nsv899241 12 69120135 69188879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553466 S 6533 0 1 "" MS20041 nsv8986 12 69138649 69215012 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23851,nssv24045,nssv20583,nssv23893,nssv21359,nssv18580,nssv23227,nssv21107,nssv19652,nssv20436,nssv23011,nssv20686,nssv26051,nssv20034,nssv20716,nssv22018,nssv24134,nssv21015,nssv20824,nssv20570 M 31 18 1 Samples from several populations that are part of the HapMap project. PTPRB NA07029,NA07048,NA10839,NA10863,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18853,NA18972,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820024 12 69139020 69188080 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418745 S 2 1 0 "" AK1 nsv469464 12 69143357 69188879 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544325 S 1557 0 1 "" NINDS_83 nsv899242 12 69143357 69188879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537492 S 6533 0 1 "" MS13228 dgv40n17 12 69158125 69165667 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437152,nsv437153 M 60 0 2 "" NA10847,NA10851 nsv437151 12 69158125 69168994 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467032 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10846 nsv515985 12 69158125 69170763 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679795,nssv678295,nssv684453,nssv652653,nssv674454,nssv683102,nssv685742,nssv691791,nssv679124,nssv691513,nssv692145,nssv693279,nssv673633,nssv678140,nssv689170,nssv675924,nssv676794,nssv674656,nssv682169,nssv676982,nssv676295,nssv688392,nssv651966,nssv651865,nssv675402,nssv676356,nssv670996,nssv654069,nssv676577,nssv659866,nssv689142,nssv656227,nssv689355,nssv652321,nssv670877,nssv663335,nssv656246,nssv654033,nssv675293,nssv686083,nssv652375,nssv678936,nssv705469,nssv669062,nssv686017,nssv668382,nssv665259,nssv686050,nssv691534,nssv673615,nssv660013,nssv664522,nssv697421,nssv661558,nssv683534,nssv670953,nssv680853,nssv652853,nssv676444,nssv683015,nssv668243,nssv665798,nssv684249,nssv679150,nssv652011,nssv668128,nssv652133,nssv653427,nssv694028,nssv669423,nssv680765,nssv686033,nssv679190,nssv651978,nssv653660,nssv687982,nssv686257,nssv653405,nssv670798,nssv655208 M 2026 3 77 "" esv21538 12 69158421 69164456 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13248 S 451 32 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 nsv820481 12 69158421 69164568 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421009 S 1 0 1 "" NA10851 nsv826416 12 69158421 69164568 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435357,nssv1440592,nssv1436953,nssv1433916,nssv1428907,nssv1439212,nssv1441435,nssv1436118,nssv1432344,nssv1427762,nssv1430849,nssv1434654,nssv1422093 M 31 0 13 "" AK16,AK20,AK8,NA18526,NA18542,NA18564,NA18566,NA18570,NA18942,NA18968,NA18969,NA18973,NA18997 esv6060 12 69158530 69164482 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28501 S 1 0 1 "" SJK esv2422167 12 69158942 69164294 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111428,essv5091522,essv5020606,essv5150236,essv5152947,essv5055807,essv5078378,essv5025705,essv5056964,essv5022071,essv5024873,essv5072522,essv5071233,essv5015374,essv5054602,essv5036229,essv5083479,essv5146966,essv5030455,essv5044831,essv5027630,essv5015344,essv5042374,essv5017462,essv5009597,essv5044989,essv5069664,essv5135590,essv5063608,essv5106097,essv5160014,essv5159066,essv5058637,essv5102738,essv5106199,essv5149765,essv5102079,essv5158987,essv5044689,essv5145162,essv5088597,essv5032828,essv5133426,essv5105401,essv5059560,essv5066831,essv5142115,essv5083658,essv5039582,essv5001959,essv5152449,essv5054776,essv5150694,essv5140295,essv5102096,essv5089319,essv5065394,essv5024719,essv5151356,essv5156650,essv5049561,essv5036030,essv5084455,essv5161228,essv5025190,essv5081969,essv5086961,essv5161082,essv5026530,essv5055491,essv5061399,essv5027043,essv5096185,essv5083783,essv5089655,essv5105642,essv5084975,essv5144862,essv5108827,essv5120593,essv5106575,essv5144200,essv5028069,essv5049094,essv5134046,essv5050839,essv5110499,essv5096434,essv5019575,essv5024165,essv5033620,essv5108529,essv5072701,essv5062282,essv5096494,essv5018194,essv5028033,essv5101674,essv5101554,essv5041340,essv5028181,essv5090815,essv5033227,essv5026929,essv5002990,essv5125270,essv5132528,essv5121116,essv5146401,essv5133088,essv5129755,essv5072176,essv5026896,essv5018398,essv5105278,essv5021943,essv5020081,essv5104684,essv5046859,essv5150810,essv5024610,essv5086025,essv5097167,essv5101637,essv5003087,essv5140651,essv5091695,essv5160808,essv5013831,essv5099315,essv5032086,essv5045030,essv5112601,essv5051065,essv5075093,essv5141520,essv5088324,essv5018638,essv5105175,essv5032312,essv5002448,essv5153715,essv5077813,essv5038999,essv5110968,essv5108714,essv5121513,essv5090823,essv5109482,essv5109149,essv5053470,essv5150796,essv5045454,essv5047236,essv5107748,essv5135904,essv5086544,essv5012400,essv5156846,essv5045490,essv5139949,essv5033373,essv5010534,essv5024722,essv5101372,essv5137586,essv5110819,essv5126054,essv5076568,essv5032016,essv5084569,essv5018775,essv5140196,essv5114529,essv5059651,essv5113023,essv5154930,essv5010380,essv5077075,essv5079380,essv5060231,essv5030944,essv5131503,essv5037398,essv5099603,essv5129355,essv5058056,essv5121208,essv5092586,essv5157578,essv5139896,essv5151791,essv5092080,essv5140741,essv5057235,essv5160210,essv5160737,essv5155605,essv5131646,essv5061082,essv5058308,essv5079547,essv5133464,essv5150116,essv5009800,essv5033598,essv5057975,essv5139659,essv5112252,essv5117059,essv5123922,essv5052063,essv5102167,essv5103894,essv5098239,essv5093442,essv5144951,essv5009632,essv5134246,essv5137750,essv5141193,essv5152118,essv5027107,essv5023373,essv5106861,essv5108789,essv5065435,essv5128510,essv5034929,essv5018597,essv5064222,essv5009949,essv5088775,essv5142495,essv5128809,essv5129846,essv5094369,essv5068788,essv5155973,essv5058764,essv5155534,essv5120100,essv5067842,essv5092013,essv5026063,essv5107958,essv5136826,essv5074082,essv5077567,essv5101898,essv5131354,essv5154583,essv5032960,essv5005619,essv5021358,essv5086922,essv5076561,essv5085837,essv5067213,essv5095157,essv5015879,essv5130464,essv5096355,essv5074858,essv5116625,essv5116456,essv5077329,essv5069429,essv5048512,essv5063396,essv5005477,essv5026262,essv5094187,essv5089940,essv5112999,essv5117922,essv5102578,essv5156759,essv5098309,essv5009542,essv5157284,essv5061689,essv5149686,essv5150371,essv5058980,essv5038789,essv5016058,essv5004052,essv5059259,essv5048949,essv5059569,essv5026655,essv5110130,essv5110872,essv5063619,essv5150848,essv5102250,essv5002525,essv5054022,essv5120222,essv5149746,essv5063618,essv5080760,essv5094903,essv5033740,essv5042208,essv5041909,essv5043433,essv5118386,essv5146145,essv5122191,essv5003263,essv5090506,essv5114210,essv5010875,essv5107655,essv5071922,essv5070895,essv5130028,essv5038965,essv5034313,essv5023594,essv5086855,essv5139555,essv5072029,essv5073828,essv5074764,essv5124820,essv5078435,essv5058432,essv5130656,essv5122779,essv5079315,essv5145949,essv5107528,essv5010080,essv5084936,essv5103453,essv5068531,essv5111291,essv5049490,essv5089026,essv5149459,essv5017521,essv5110469,essv5113638,essv5005028,essv5055719,essv5013940,essv5136812,essv5018492,essv5053835,essv5129940,essv5021552,essv5018002,essv5072469,essv5003376,essv5117014,essv5006784,essv5151654,essv5063772,essv5030893,essv5090168,essv5116212,essv5038743,essv5037621,essv5106104,essv5019553,essv5099872,essv5089550 M 1184 0 370 "" NA06984,NA06986,NA06997,NA07346,NA07348,NA07349,NA07357,NA10831,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10853,NA10856,NA11829,NA11830,NA11840,NA11917,NA11920,NA11931,NA12003,NA12045,NA12056,NA12145,NA12146,NA12155,NA12234,NA12272,NA12273,NA12275,NA12286,NA12336,NA12340,NA12343,NA12376,NA12413,NA12489,NA12546,NA12740,NA12750,NA12751,NA12812,NA12815,NA12843,NA12864,NA12872,NA12877,NA12889,NA17962,NA17966,NA17967,NA17968,NA17974,NA17977,NA17979,NA17987,NA17988,NA17990,NA17997,NA17999,NA18101,NA18106,NA18117,NA18118,NA18122,NA18124,NA18125,NA18128,NA18132,NA18133,NA18140,NA18141,NA18143,NA18144,NA18146,NA18148,NA18154,NA18156,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18510,NA18524,NA18526,NA18532,NA18534,NA18542,NA18546,NA18548,NA18550,NA18552,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18594,NA18596,NA18599,NA18613,NA18615,NA18616,NA18617,NA18620,NA18621,NA18624,NA18626,NA18627,NA18630,NA18631,NA18632,NA18634,NA18636,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18674,NA18682,NA18689,NA18694,NA18696,NA18702,NA18745,NA18747,NA18852,NA18854,NA18858,NA18859,NA18860,NA18924,NA18933,NA18935,NA18939,NA18940,NA18942,NA18948,NA18953,NA18956,NA18957,NA18959,NA18960,NA18961,NA18966,NA18968,NA18969,NA18973,NA18978,NA18979,NA18980,NA18981,NA18993,NA18994,NA18997,NA19007,NA19009,NA19055,NA19058,NA19066,NA19067,NA19074,NA19076,NA19078,NA19083,NA19084,NA19086,NA19087,NA19088,NA19101,NA19190,NA19191,NA19193,NA19194,NA19197,NA19199,NA19203,NA19206,NA19208,NA19224,NA19226,NA19247,NA19309,NA19313,NA19314,NA19359,NA19430,NA19451,NA19452,NA19473,NA19474,NA19649,NA19650,NA19651,NA19652,NA19653,NA19656,NA19664,NA19665,NA19681,NA19682,NA19683,NA19684,NA19703,NA19705,NA19711,NA19714,NA19716,NA19719,NA19720,NA19721,NA19746,NA19748,NA19750,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19777,NA19778,NA19780,NA19783,NA19789,NA19795,NA19901,NA19904,NA19909,NA19916,NA19919,NA19921,NA19982,NA20129,NA20284,NA20294,NA20300,NA20319,NA20322,NA20334,NA20345,NA20359,NA20360,NA20506,NA20515,NA20516,NA20517,NA20528,NA20529,NA20535,NA20538,NA20541,NA20588,NA20752,NA20757,NA20758,NA20760,NA20769,NA20792,NA20795,NA20797,NA20799,NA20802,NA20807,NA20809,NA20812,NA20818,NA20826,NA20845,NA20846,NA20851,NA20853,NA20861,NA20869,NA20870,NA20871,NA20877,NA20884,NA20885,NA20887,NA20892,NA20903,NA20906,NA20909,NA21086,NA21088,NA21089,NA21092,NA21094,NA21101,NA21107,NA21116,NA21117,NA21125,NA21143,NA21308,NA21309,NA21313,NA21316,NA21317,NA21318,NA21333,NA21359,NA21361,NA21362,NA21363,NA21367,NA21378,NA21379,NA21385,NA21386,NA21400,NA21401,NA21408,NA21415,NA21417,NA21420,NA21423,NA21451,NA21475,NA21477,NA21485,NA21486,NA21487,NA21489,NA21493,NA21512,NA21513,NA21514,NA21519,NA21524,NA21525,NA21526,NA21527,NA21576,NA21578,NA21580,NA21582,NA21583,NA21587,NA21597,NA21613,NA21614,NA21632,NA21634,NA21636,NA21647,NA21648,NA21678,NA21689,NA21693,NA21719,NA21738,NA21740,NA21768,NA21784,NA21826 nsv442649 12 69158942 69164294 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv31e180 12 69159142 69164568 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1007430,esv990633 M 3 1 0 "" HuRef nsv507654 12 69159382 69165382 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620509 S 4 1 0 "" NA15510 dgv293n67 12 69160184 69164568 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826418,nsv826417 M 31 0 2 "" AK10,NA18552 nsv514673 12 69160384 69162720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628152 S 1414 0 1 "" nsv818923 12 69160993 69162296 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416003,nssv1418021,nssv1417462,nssv1418398,nssv1418022,nssv1416002,nssv1416001,nssv1418399 M 112 0 8 "" NA07348,NA07357,NA10847,NA12146,NA12740,NA12750,NA12751,NA18960 nsv438219 12 69160993 69163283 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470483,nssv470488,nssv470482,nssv470486,nssv470484,nssv470489,nssv470481,nssv470487 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA10846,NA10847,NA10851,NA10856,NA12056,NA12145,NA12146,NA12751 esv32743 12 69161518 69399479 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100873,essv98141,essv96946,essv95600,essv93611,essv97158,essv99749,essv93306,essv98087,essv100381,essv96253 M 51 11 0 PTPRB,PTPRR 21656,21772,21817,21841,21972,22075,22086,22170,22259,22300,22371 nsv509472 12 69286903 69333590 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620973 S 4 1 0 PTPRB,PTPRR NA15510 nsv820183 12 69288701 69289214 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418977 S 2 0 1 PTPRB AK1 esv271661 12 69306272 69306357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517356 S 157 1 0 Samples from several populations that are part of the HapMap project. PTPRB NA18970 nsv518144 12 69309150 69314127 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695565 S 2026 1 0 PTPRB nsv518982 12 69329521 69337039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696450 S 2026 0 1 PTPRR esv1004350 12 69367383 69367383 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566197 S 3 1 0 PTPRR HuRef esv2082743 12 69413293 69413713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684038 S 1 0 1 PTPRR NA18507 nsv53686 12 69495174 69498280 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72264 M 24 PTPRR nsv436048 12 69548475 69555181 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466714 S 2 1 0 PTPRR NA15510 nsv765 12 69614902 69640122 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9840,nssv5435,nssv1095,nssv4032 M 9 4 0 "" NA12878,NA18507,NA19129,NA19240 esv2429049 12 69619158 69626124 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342647 S 1 0 1 "" NA18507 nsv519696 12 69718435 69719560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674160,nssv657610 M 2026 0 2 "" nsv832450 12 69726624 69911166 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449882 S 95 1 0 TSPAN8 nsv507655 12 69767357 69773357 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617835,nssv620510 M 4 2 0 "" CHM,NA15510 nsv826419 12 69783516 69797507 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436120 S 31 1 0 "" NA18566 nsv442277 12 69785308 69796518 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv274017 12 69811704 69812064 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580374,essv2580524,essv2579054,essv2579396 M 7 4 0 Samples from several populations that are part of the HapMap project. TSPAN8 NA12891,NA19238,NA19239,NA19240 esv268889 12 69811715 69812051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575959,essv2540686,essv2571746,essv2521226,essv2525944,essv2536381,essv2571080,essv2556647,essv2568233,essv2523299,essv2535153,essv2554031,essv2544554,essv2520495,essv2547350,essv2558376,essv2564637,essv2553724,essv2576248,essv2520077,essv2554818,essv2562071,essv2528604,essv2547025,essv2540099,essv2532208,essv2539159,essv2561477,essv2544786,essv2523584,essv2541099,essv2542768,essv2540601,essv2524497,essv2534555,essv2549210,essv2560149,essv2522170,essv2566282,essv2531240,essv2532785,essv2567716,essv2528845,essv2567467,essv2541488,essv2570313,essv2553399,essv2535850,essv2572522,essv2559070,essv2527816,essv2578302,essv2573091,essv2555469,essv2533791,essv2566453,essv2530087,essv2573844,essv2527557,essv2557631,essv2556000,essv2534366,essv2522405,essv2531566,essv2543090,essv2572108,essv2575029,essv2524192,essv2545069,essv2571547,essv2574529,essv2549014,essv2533043,essv2554576,essv2524918,essv2563215 M 157 76 0 Samples from several populations that are part of the HapMap project. TSPAN8 NA07037,NA07051,NA07346,NA07357,NA10847,NA11830,NA11831,NA11840,NA11894,NA11918,NA11920,NA11993,NA11994,NA11995,NA12004,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12763,NA12814,NA12815,NA12872,NA12874,NA12891,NA12892,NA18489,NA18505,NA18519,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18555,NA18561,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18907,NA18940,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18973,NA19102,NA19129,NA19172,NA19238,NA19240 esv1243916 12 69811746 69811746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756397 S 2 1 0 TSPAN8 HuRef esv24361 12 69818942 69819932 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17798 S 451 0 4 TSPAN8 NA07045,NA11995,NA12239,NA12287 esv2515057 12 69819035 69820155 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265566 S 1 0 0 TSPAN8 NA18507 nsv821005 12 69819095 69819779 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421010 S 1 1 0 TSPAN8 NA10851 dgv294n67 12 69819301 69819779 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826422,nsv826421 M 31 0 3 TSPAN8 NA18537,NA18997,NA18999 esv7710 12 69819549 69819782 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30151 S 1 0 0 TSPAN8 SJK esv2569493 12 69819723 69820525 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279722 S 1 1 0 TSPAN8 NA18507 nsv510304 12 69886755 69892755 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618368,nssv622216 M 4 0 2 "" CHM,NA10860 esv2441905 12 69887350 69890556 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234573 S 1 0 1 "" NA18507 esv2474927 12 69887811 69891422 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304689 S 1 0 1 "" NA18507 nsv512283 12 69887878 69890860 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624860 S 1 0 1 "" 1 esv2216531 12 69888442 69890928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942186 S 1 0 1 "" NA18507 esv5279 12 69888595 69890940 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27720 S 1 0 1 Single Asian sample YH "" YH esv29860 12 69888644 69890748 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12695 S 451 0 8 "" NA12156,NA12239,NA18858,NA18861,NA19099,NA19114,NA19129,NA19225 nsv820826 12 69888644 69890748 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421011 S 1 0 1 "" NA10851 nsv899243 12 69920379 70053288 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567689,nssv1589714 M 6533 1 1 "" IS31137,IS38400 esv269806 12 69928447 69928532 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517186 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv2068562 12 69998545 69998915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549663 S 1 0 1 "" NA18507 esv1960243 12 70045321 70045786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640467 S 1 0 1 "" NA18507 esv1007534 12 70054387 70057647 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564738 S 3 1 0 "" HuRef nsv767 12 70082471 70119264 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9043 S 9 0 1 "" NA12156 esv24154 12 70106813 70108189 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10720 S 451 0 2 "" NA18511,NA19147 esv22960 12 70172705 70175918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14999 S 451 0 10 LGR5 NA18502,NA18505,NA18517,NA18523,NA18909,NA18916,NA19108,NA19147,NA19190,NA19225 nsv436156 12 70172816 70178644 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466715 S 2 0 1 Samples from several populations that are part of the HapMap project. LGR5 NA18505 nsv436661 12 70224048 70227458 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466716 S 2 0 0 Samples from several populations that are part of the HapMap project. LGR5 NA18505 esv1359333 12 70244420 70244728 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191323 S 2 0 1 LGR5 HuRef nsv826423 12 70250864 70251356 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430083 S 31 0 1 LGR5 AK14 nsv832451 12 70264599 70486128 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449883 S 95 0 1 LGR5,RAB21,THAP2,TMEM19,ZFC3H1 nsv524634 12 70377292 70398867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700599 S 2026 0 1 TMEM19 dgv519e1 12 70388731 70594440 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5556,esv541 M 271 0 0 MRS2P2,RAB21,TBC1D15 NA18529 nsv899244 12 70450662 70518453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536748 S 6533 1 0 RAB21 MS12943 dgv1447n71 12 70450662 70572383 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899251,nsv899245,nsv899249,nsv899248,nsv899247,nsv899246,nsv899252,nsv899250 M 6533 19 0 MRS2P2,RAB21,TBC1D15 MS11057,MS16834,MS17898,MS21515,MS24225,MS25484,MS25842,SP50798,SP51292,SP52165,SP52412,SP52677,SP53068,SP54650,SP54661,SP55138,SP56085,SP56807,SP81047 esv35030 12 70459000 70559100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979324,essv6979323 M 771 1 0 MRS2P2,RAB21,TBC1D15 NA18529 essv4115 12 70459038 70558246 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MRS2P2,RAB21,TBC1D15 NA18529 nsv818924 12 70468172 70566851 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417101 S 112 1 0 MRS2P2,TBC1D15 NA18529 nsv8987 12 70473883 70477100 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20613,nssv20935,nssv22048,nssv20600,nssv20466,nssv19252,nssv20064,nssv23039,nssv23920,nssv20456,nssv24344,nssv23878,nssv21137 M 31 0 13 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA18502,NA18504,NA18563,NA18853,NA18860,NA18942,NA18975,NA18980,NA19007,NA19132,NA19144 esv27325 12 70475334 70476883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14425 S 451 0 12 "" NA07037,NA18502,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19190 dgv32e180 12 70475380 70476853 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1001653,esv997245 M 3 0 1 "" HuRef nsv826424 12 70475380 70476853 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435441,nssv1436954,nssv1421769,nssv1422874,nssv1426981,nssv1423693,nssv1439213,nssv1428918,nssv1435358,nssv1426053,nssv1425256,nssv1438383,nssv1429337,nssv1432345,nssv1433917,nssv1422095,nssv1436121,nssv1441436,nssv1428576 M 31 0 19 "" AK10,AK12,AK2,AK20,AK4,AK6,NA18526,NA18542,NA18547,NA18552,NA18566,NA18592,NA18942,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 esv2975 12 70475389 70476927 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25416 S 1 0 1 Single Asian sample YH "" YH nsv819705 12 70475410 70476883 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419271 S 2 0 1 "" AK1 esv8439 12 70475424 70476841 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30880 S 1 0 1 "" SJK esv999152 12 70475426 70476840 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582973 S 3 0 1 "" HuRef nsv899253 12 70477965 70518453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504579 S 6533 1 0 "" SP52604 esv2653085 12 70507733 70509573 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210327 S 1 0 1 "" NA18507 esv2060483 12 70508111 70509224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4707293 S 1 0 1 "" NA18507 esv28867 12 70508427 70509017 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21114 S 451 0 2 "" NA19099,NA19147 nsv899254 12 70508643 70562917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552200 S 6533 0 1 MRS2P2,TBC1D15 MS19277 nsv899255 12 70520316 70572383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536743 S 6533 1 0 MRS2P2,TBC1D15 MS12943 nsv8988 12 70529317 70534876 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24370 S 31 0 1 Samples from several populations that are part of the HapMap project. MRS2P2,TBC1D15 NA18860 nsv518498 12 70593883 70795046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695939 S 2026 0 1 TBC1D15,TPH2 esv1003596 12 70641204 70646379 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565166 S 3 0 1 TPH2 HuRef esv2451960 12 70642287 70645199 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274850 S 1 0 1 TPH2 NA18507 esv2253374 12 70642674 70644588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4824152 S 1 0 1 TPH2 NA18507 nsv512284 12 70642764 70644615 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624861 S 1 0 1 TPH2 1 esv996582 12 70642847 70644410 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580895 S 3 0 1 TPH2 HuRef esv9704 12 70642868 70644443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32145 S 1 0 1 TPH2 SJK esv1137133 12 70642884 70644448 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166864 S 2 0 1 TPH2 HuRef nsv819959 12 70642964 70644619 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419300 S 2 0 1 TPH2 AK1 dgv295n67 12 70642975 70644217 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826426,nsv826425,nsv826430,nsv826427 M 31 0 21 TPH2 AK14,AK16,AK18,AK6,NA18537,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821295 12 70642975 70644537 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421012 S 1 0 1 TPH2 NA10851 nsv826428 12 70642975 70644537 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426054,nssv1432346,nssv1425257,nssv1429338,nssv1436122,nssv1427764,nssv1428577 M 31 0 7 TPH2 AK10,AK12,AK2,AK20,AK4,AK8,NA18566 esv23023 12 70643163 70644244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20858 S 451 0 1 TPH2 NA18861 nsv826429 12 70643188 70644005 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433918 S 31 0 1 TPH2 NA18526 esv275101 12 70651588 70656484 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585343,essv2585134 M 1250 1 1 TPH2 esv3280 12 70684034 70684642 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25721 S 1 0 1 Single Asian sample YH TPH2 YH nsv899256 12 70695815 70785590 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545033 S 6533 1 0 TPH2 MS16643 nsv768 12 70733295 70762527 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1096 S 9 1 0 "" NA19240 esv2422452 12 70772200 71461848 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161312 S 181 1 0 LOC283392,TRHDE ND01693 esv272488 12 70793775 70793860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581607 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv826432 12 70794532 70802441 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425258 S 31 0 1 "" AK2 nsv769 12 70812699 70857923 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9044 S 9 0 1 "" NA12156 nsv899257 12 70856013 71432163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596705 S 6533 0 1 LOC283392,TRHDE IS40618 nsv832452 12 70871238 71050762 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449885 S 95 1 0 LOC283392,TRHDE esv2633974 12 70900621 70902051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366753 S 1 0 1 "" NA18507 nsv770 12 70902104 70946777 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9045 S 9 0 1 LOC283392 NA12156 nsv899258 12 70910355 71244166 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559043 S 6533 1 0 LOC283392,TRHDE MS23701 nsv826433 12 70941957 70943442 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422877,nssv1430852 M 31 0 2 LOC283392 AK16,NA18552 nsv469465 12 70942192 71545381 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544326 S 1557 1 0 LOC283392,TRHDE NINDS_198 nsv771 12 70988032 71021287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9046 S 9 1 0 TRHDE NA12156 esv269831 12 71008482 71008789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494643,essv2513454,essv2495635,essv2501814 M 157 4 0 Samples from several populations that are part of the HapMap project. TRHDE NA18519,NA18907,NA18916,NA19239 esv274378 12 71008511 71008696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579358,essv2579688 M 7 2 0 Samples from several populations that are part of the HapMap project. TRHDE NA19239,NA19240 esv2166520 12 71011256 71011743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564611 S 1 0 1 TRHDE NA18507 esv1226093 12 71026072 71026125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121556 S 2 0 1 TRHDE HuRef esv23503 12 71044291 71051384 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10499 S 451 0 1 TRHDE NA18508 esv1942657 12 71060576 71061013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949229 S 1 0 1 TRHDE NA18507 nsv832453 12 71064325 71253094 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449890,nssv1449887,nssv1449898,nssv1449886,nssv1449894,nssv1449889,nssv1449897,nssv1449896,nssv1449888,nssv1449899,nssv1449891,nssv1449893,nssv1449892 M 95 1 12 TRHDE nsv772 12 71096169 71138463 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9048 S 9 0 1 TRHDE NA12156 nsv521839 12 71113300 71126089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694612 S 2026 0 1 TRHDE nsv469466 12 71116708 71171821 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544327 S 1557 0 1 TRHDE NINDS_183 nsv818925 12 71135298 71136703 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417063 S 112 0 1 TRHDE NA07000 nsv899259 12 71171821 71297634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564269 S 6533 0 1 TRHDE IS30196 nsv899260 12 71201098 71263793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597878 S 6533 0 1 TRHDE IS40838 nsv832454 12 71227065 71367447 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449900 S 95 1 0 TRHDE esv3786 12 71263940 71264191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26227 S 1 0 1 Single Asian sample YH TRHDE YH esv987864 12 71263964 71264126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578945 S 3 0 1 TRHDE HuRef dgv520e1 12 71276974 71537376 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv739,essv1236 M 271 0 0 TRHDE NA18995 nsv8989 12 71359585 71361193 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24072 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 esv34457 12 71368700 71518607 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978272,essv6987362,essv6989011,essv6978271 M 771 0 1 "" NA18995 essv2360 12 71368737 71494315 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18995 nsv8993 12 71376546 71394384 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21167 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv525560 12 71415853 71427019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701699 S 2026 0 1 "" nsv52794 12 71431017 71434494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71372 M 24 "" dgv1448n71 12 71434561 71528398 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899262,nsv899261 M 6533 0 3 "" IS34358,IS34782,MS22146 nsv899263 12 71500424 71699308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564710 S 6533 0 1 "" IS30288 esv29835 12 71506351 71507347 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13433 S 451 0 1 "" NA18916 esv2153425 12 71579655 71580103 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693614 S 1 0 1 "" NA18507 nsv519510 12 71638697 71650107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696892 S 2026 0 1 "" dgv521e1 12 71660953 71703530 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8013,esv893 M 271 0 0 "" NA18871 dgv1449n71 12 71664654 71781889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899267,nsv899268,nsv899266,nsv899264 M 6533 0 5 "" IS30635,IS33196,IS35100,IS41292,MS11307 nsv832455 12 71667769 71808892 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449901 S 95 1 0 "" nsv528157 12 71678350 71698489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704705 S 2026 0 1 "" nsv899265 12 71680582 71734981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559178 S 6533 0 1 "" MS23768 esv996734 12 71700999 71709673 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563612 S 3 0 1 "" HuRef nsv773 12 71730160 71773190 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9049 S 9 0 1 "" NA12156 dgv1450n71 12 71730776 71881662 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899271,nsv899269 M 6533 0 2 "" IS41889,IS41926 nsv899270 12 71730776 71881662 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582556,nssv1577431,nssv1596496 M 6533 1 2 "" IS34440,IS35993,IS40538 dgv1451n71 12 71784014 71881662 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899275,nsv899272,nsv899273 M 6533 0 4 "" IS30292,IS37467,IS41940,MS21738 nsv899274 12 71796521 72162057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601056 S 6533 0 1 "" IS41964 nsv774 12 71855349 71889982 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2887 S 9 1 0 "" NA18555 nsv472356 12 71866811 71866887 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558110 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18555 nsv832456 12 71906686 72062213 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449902,nssv1449903 M 95 2 0 "" nsv899276 12 71917350 71989222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591880 S 6533 0 1 "" IS39081 nsv525883 12 71956122 71980950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702083 S 2026 0 1 "" nsv469467 12 71971593 72024082 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544328 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00157 nsv899277 12 72060153 72162057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599964 S 6533 0 1 "" IS41819 nsv832457 12 72070855 72298253 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449904,nssv1449905 M 95 2 0 "" esv270013 12 72121339 72121427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557363,essv2542011,essv2556419,essv2527748,essv2575281,essv2530220 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18856,NA18871,NA18907,NA19102,NA19141 nsv899278 12 72127478 72263830 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522020,nssv1563590 M 6533 1 1 "" MS26120,SP52694 nsv832458 12 72171596 72361758 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449907 S 95 0 1 "" esv2167730 12 72197481 72197909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816406 S 1 0 1 "" NA18507 nsv826434 12 72246546 72247085 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426055 S 31 1 0 "" AK4 nsv442278 12 72277693 72283646 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818926 12 72277909 72278941 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418126,nssv1418137 M 112 0 2 "" NA06991,NA06993 nsv899279 12 72297057 72358536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593562 S 6533 0 1 "" IS39450 esv274961 12 72325763 72336777 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586145 S 1250 0 1 "" nsv510305 12 72347555 72353555 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618369,nssv624123 M 4 0 2 "" CHM,NA18994 nsv469468 12 72358536 72424867 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544329 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00336 nsv511496 12 72389434 72399295 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626114 S 1 1 0 "" 1 esv2515012 12 72389740 72391883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231353 S 1 0 1 "" NA18507 esv1976715 12 72389890 72390288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557357 S 1 0 1 "" NA18507 esv29713 12 72390099 72391848 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13264,esv15381 M 451 3 0 "" NA12006,NA12239,NA12489 nsv820770 12 72390099 72391848 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421014 S 1 0 1 "" NA10851 esv1204835 12 72390224 72390299 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973734 S 2 0 1 "" HuRef esv1601371 12 72390366 72390569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169776 S 2 0 1 "" HuRef esv1013402 12 72390868 72390868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087115 S 2 1 0 "" HuRef esv275538 12 72428811 72438156 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585470,essv2585710 M 1250 1 1 "" nsv437758 12 72493662 72503163 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467639 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv24152 12 72497049 72497655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19750 S 451 0 1 "" NA19240 esv275510 12 72540110 72586226 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585168,essv2586139 M 1250 1 1 "" nsv522394 12 72561457 72647245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695175 S 2026 0 1 "" dgv1452n71 12 72561457 72713878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899280,nsv899281 M 6533 0 10 "" IS33587,IS35041,IS36244,IS38050,IS38338,IS38487,IS39420,IS41314,IS41908,MS16259 nsv528259 12 72589141 72647245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704825 S 2026 0 1 "" nsv526601 12 72593807 72691303 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702921 S 2026 0 1 "" nsv899282 12 72601519 72791798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584291 S 6533 0 1 "" IS36957 nsv899283 12 72647245 72896127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594210 S 6533 0 1 LOC100507377 IS39718 dgv1453n71 12 72743149 72938064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899285,nsv899284,nsv899286 M 6533 0 3 LOC100507377 IS31194,IS31419,IS35498 nsv470302 12 72791798 72878975 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546966 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100507377 HGDP00615 dgv1454n71 12 72795885 72938064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899287,nsv899288 M 6533 0 7 LOC100507377 IS30553,IS31728,IS35229,IS39119,IS39923,IS41043,IS41068 nsv469470 12 72815097 72882519 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544330 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100507377 HGDP00133 nsv899289 12 72815097 72896127 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570090,nssv1567788,nssv1568763 M 6533 1 2 LOC100507377 IS31145,IS31335,IS31799 nsv775 12 72847101 72875146 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5436 S 9 1 0 LOC100507377 NA19129 nsv520257 12 72876623 72967266 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697311 S 2026 1 0 LOC100507377 dgv296n67 12 72930738 72933720 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826435,nsv826436 M 31 0 4 LOC100507377 NA18542,NA18552,NA18582,NA18949 esv27957 12 72930893 72934060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15784 S 451 0 8 LOC100507377 NA18505,NA18517,NA18858,NA18861,NA18909,NA19114,NA19147,NA19225 nsv469472 12 72938064 72976559 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544332 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100507377 HGDP00106 dgv1455n71 12 72953004 73027225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899290,nsv899291 M 6533 0 2 LOC100507377 IS38633,MS21738 nsv469473 12 72962648 72999163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544333 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100507377 HGDP00963 nsv826437 12 72964375 72965940 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421781 S 31 0 1 LOC100507377 NA18547 nsv523765 12 72967266 73035743 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699586 S 2026 1 0 LOC100507377 esv1619965 12 73110834 73110834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118049 S 2 1 0 "" HuRef nsv899292 12 73121374 73220429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568160 S 6533 0 1 ATXN7L3B IS31205 dgv1456n71 12 73121374 73282027 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899293,nsv899295 M 6533 0 2 ATXN7L3B IS35572,IS39718 nsv899294 12 73130021 73193151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569553,nssv1587566 M 6533 0 2 "" IS31617,IS38065 nsv469474 12 73136950 73174367 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544334 S 1557 0 1 "" 1780862459_A dgv205n27 12 73144224 73208990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469476,nsv469475 M 1557 0 2 "" 1780862109_A,1780862310_A nsv470303 12 73166935 73231623 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546967 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATXN7L3B HGDP00461 nsv899296 12 73166935 73260897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567099 S 6533 0 1 ATXN7L3B IS31044 esv991250 12 73190824 73199969 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563945 S 3 0 1 "" HuRef esv2310071 12 73251013 73251500 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686078 S 1 0 1 "" NA18507 nsv53015 12 73251200 73251308 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71593 M 24 "" esv2442822 12 73294479 73297206 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174984 S 1 0 1 "" NA18507 nsv513364 12 73295174 73296503 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625757 S 1 1 0 "" 1 esv1676134 12 73295567 73295567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151539 S 2 1 0 "" HuRef esv1027136 12 73295569 73295569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932613 S 2 1 0 "" HuRef dgv1457n71 12 73331995 73459556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899298,nsv899297 M 6533 0 2 "" IS31617,IS36656 nsv832460 12 73369230 73546994 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449908 S 95 1 0 "" nsv899299 12 73392239 73561463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581418 S 6533 0 1 "" IS35572 dgv522e1 12 73396068 73500176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12918,esv962 M 271 0 0 "" NA19094 esv2560297 12 73396630 73403142 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276635 S 1 0 1 "" NA18507 esv2547667 12 73397374 73402563 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178143 S 1 0 1 "" NA18507 esv2015769 12 73397659 73401923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538778 S 1 0 1 "" NA18507 esv2497030 12 73397945 73398022 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291544 S 1 0 1 "" NA18507 esv26604 12 73398503 73401739 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14715 S 451 0 1 "" NA19108 nsv470304 12 73402297 73449364 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546968 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01051 nsv899300 12 73408264 73455942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568161 S 6533 0 1 "" IS31205 nsv899301 12 73412116 73528083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598096 S 6533 0 1 "" IS41263 nsv524456 12 73448424 73692224 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700389 S 2026 1 0 "" nsv776 12 73459532 73492150 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5437 S 9 1 0 "" NA19129 dgv1458n71 12 73460729 73528083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899302,nsv899304 M 6533 0 2 "" IS34737,IS34856 dgv1459n71 12 73460729 73578213 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899305,nsv899306,nsv899303 M 6533 0 5 "" IS31373,IS36219,IS41113,IS41224,MS18620 nsv469477 12 73471914 73491371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544337 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00964 esv270597 12 73487888 73488236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514916,essv2513802 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA19143 nsv899307 12 73507664 73765646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579862 S 6533 0 1 KCNC2 IS35181 nsv826438 12 73534266 73534854 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426056 S 31 1 0 "" AK4 nsv510603 12 73553542 73584794 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622661 S 4 0 1 "" NA18994 nsv832461 12 73566240 73719369 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449909 S 95 1 0 "" esv269611 12 73606920 73607268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514676,essv2518491,essv2517992,essv2517303,essv2518287 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12287,NA12872,NA18970,NA19240 esv273659 12 73606920 73607268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581167 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv522290 12 73621294 73800890 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695072 S 2026 1 0 KCNC2 nsv899308 12 73671364 73765646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556645 S 6533 0 1 KCNC2 MS22104 nsv832462 12 73748681 73933838 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449910 S 95 1 0 KCNC2 nsv519821 12 73812710 73816018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697068 S 2026 0 1 KCNC2 dgv98n21 12 73933055 74027150 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520424,nsv526556 M 2026 2 0 CAPS2,GLIPR1L1 nsv899309 12 73950922 73998929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533459 S 6533 1 0 CAPS2 MS11191 nsv899310 12 73969063 73993663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546814 S 6533 0 1 CAPS2 MS17208 nsv899311 12 73978528 73998929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532465 S 6533 0 1 CAPS2 MS10769 nsv899312 12 73978528 74077084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570248,nssv1594992 M 6533 0 2 CAPS2,GLIPR1L1,GLIPR1L2 IS31837,IS40067 nsv899313 12 74001597 74344078 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564100 S 6533 1 0 CAPS2,GLIPR1,GLIPR1L1,GLIPR1L2,KRR1 IS30165 nsv520316 12 74027150 74039510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662857,nssv693280 M 2026 0 2 GLIPR1L1 esv1006356 12 74143109 74146357 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565161 S 3 0 1 "" HuRef esv273819 12 74175845 74175930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581279 S 7 1 0 Samples from several populations that are part of the HapMap project. GLIPR1 NA19240 nsv826439 12 74178418 74179970 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431570 S 31 1 0 GLIPR1,KRR1 AK18 nsv470305 12 74182955 74273627 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546969 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KRR1 HGDP00903 esv269331 12 74217330 74217671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516628,essv2517048,essv2515390,essv2518621,essv2518026,essv2515864,essv2517822,essv2513800,essv2518370,essv2513615 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11931,NA12249,NA12287,NA12872,NA12873,NA12878,NA19143,NA19240 esv273291 12 74217330 74217671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581509,essv2581116 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1252838 12 74217368 74217368 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033674 S 2 1 0 "" HuRef nsv899314 12 74366081 74397018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556270 S 6533 0 1 "" MS21868 nsv832463 12 74422818 74602970 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449911 S 95 1 0 "" esv988846 12 74436771 74436771 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569689 S 3 1 0 "" HuRef esv1259362 12 74436781 74436781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017339 S 2 1 0 "" HuRef nsv899315 12 74449576 74671363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564101 S 6533 1 0 "" IS30165 esv2474492 12 74496800 74498284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217288 S 1 0 1 "" NA18507 nsv521900 12 74498650 74502021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694671 S 2026 0 1 "" nsv826440 12 74510545 74516970 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435463 S 31 0 1 "" NA18592 nsv519546 12 74533810 74541673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694334 S 2026 0 1 "" esv7159 12 74535963 74536045 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29600 S 1 1 0 "" SJK nsv53801 12 74585199 74585511 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72379 M 24 "" nsv527391 12 74690960 74694839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703826 S 2026 0 1 "" nsv518190 12 74690960 74707521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695613 S 2026 0 1 PHLDA1 esv275437 12 75061487 75065023 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586082 S 1250 0 1 "" nsv899317 12 75152298 75199519 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588104 S 6533 1 0 "" IS38153 esv2097217 12 75200803 75201186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969073 S 1 0 1 "" NA18507 nsv520195 12 75204491 75434078 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663698,nssv693371,nssv661598,nssv691259,nssv682197 M 2026 5 0 BBS10,OSBPL8 esv2436144 12 75206054 75207459 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331454 S 1 0 1 "" NA18507 esv23723 12 75297057 75299595 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21196 S 451 1 0 OSBPL8 NA19099 esv274660 12 75347150 75347492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581479 S 7 1 0 Samples from several populations that are part of the HapMap project. OSBPL8 NA12878 esv269262 12 75347156 75347488 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565717,essv2575912,essv2540831,essv2546323,essv2542479,essv2536438,essv2568199,essv2523256,essv2532027,essv2548405,essv2521782,essv2525367,essv2550406,essv2534974,essv2564425,essv2553559,essv2576457,essv2564231,essv2530675,essv2537708,essv2556955,essv2551768,essv2532070,essv2558743,essv2539001,essv2542661,essv2534621,essv2559894,essv2567430,essv2535576,essv2566715,essv2543564,essv2534371,essv2543249,essv2525706,essv2526593,essv2572921,essv2538145,essv2533276,essv2547812,essv2524946 M 157 41 0 Samples from several populations that are part of the HapMap project. OSBPL8 NA07000,NA07051,NA07347,NA07357,NA11829,NA11830,NA11831,NA11881,NA11919,NA11920,NA11995,NA12004,NA12006,NA12045,NA12144,NA12156,NA12234,NA12249,NA12751,NA12763,NA12814,NA12828,NA12873,NA12878,NA18501,NA18504,NA18505,NA18516,NA18519,NA18550,NA18561,NA18570,NA18582,NA18608,NA18853,NA18870,NA18959,NA18965,NA18980,NA19114,NA19143 nsv778 12 75492320 75526645 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1097 S 9 1 0 "" NA19240 esv1329029 12 75592323 75592323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303707 S 2 1 0 "" HuRef nsv899318 12 75684469 75817608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575295 S 6533 0 1 CSRP2,ZDHHC17 IS33696 esv270980 12 75713078 75713436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511891,essv2509826,essv2493711,essv2509434,essv2496904 M 157 5 0 Samples from several populations that are part of the HapMap project. ZDHHC17 NA18499,NA18508,NA18517,NA19129,NA19190 esv274279 12 75799827 75800050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582221,essv2582804 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv779 12 75811790 75841243 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10873 S 9 1 0 "" NA18956 nsv469479 12 75843140 75907212 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544338 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00098 esv1755893 12 76011881 76011881 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670001 S 2 1 0 "" HuRef nsv780 12 76089324 76114197 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9050 S 9 0 1 "" NA12156 nsv519103 12 76131354 76133175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696579 S 2026 0 1 "" esv2242322 12 76150813 76151187 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851156 S 1 0 1 "" NA18507 nsv519280 12 76174583 76210959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696763 S 2026 0 1 "" esv1635664 12 76185351 76185351 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133495 S 2 1 0 "" HuRef esv23018 12 76198181 76198845 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11298 S 451 0 2 "" NA18508,NA18858 nsv832464 12 76279324 76425185 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449912 S 95 1 0 "" nsv899319 12 76405105 76429338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539317 S 6533 0 1 "" MS14296 dgv41n17 12 76421203 76429338 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437760,nsv437759 M 60 0 2 "" NA19154,NA19194 esv275467 12 76422680 76423179 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585716,essv2585718 M 1250 1 1 "" esv270854 12 76489148 76489233 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514619,essv2518828,essv2516455,essv2518110 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12045,NA12814,NA12872 esv268476 12 76489609 76489887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576110,essv2542471,essv2543851,essv2548585,essv2550265,essv2547570,essv2529304,essv2564595,essv2541149,essv2536255,essv2533110,essv2525205 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07357,NA11830,NA11919,NA11992,NA12045,NA12234,NA12717,NA12749,NA12751,NA18545 nsv832465 12 76529761 76729487 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449914,nssv1449913 M 95 2 0 "" esv33056 12 76556908 76593574 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100787 S 51 1 0 "" 21656 nsv8994 12 76562819 76564230 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23255 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv438220 12 76566591 76591472 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470491,nssv470490 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19203,NA19205 nsv437761 12 76586684 76593842 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467642 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 nsv826441 12 76595005 76622435 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441438 S 31 0 1 "" NA18969 esv22374 12 76622959 76624876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18388 S 451 0 4 "" NA18858,NA18916,NA19129,NA19240 nsv518042 12 76692752 76692844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694193 S 2026 0 1 "" nsv518576 12 76734829 76854938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694065 S 2026 0 1 NAV3 nsv899320 12 76778022 76837799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538834 S 6533 0 1 NAV3 MS13777 nsv469481 12 76870586 76888911 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544339 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NAV3 HGDP01336 esv2607464 12 76878150 76880392 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252344 S 1 0 1 NAV3 NA18507 esv2199986 12 76899963 76900492 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669139 S 1 0 1 NAV3 NA18507 esv2931 12 76900096 76900401 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25372 S 1 0 1 Single Asian sample YH NAV3 YH esv2611482 12 76920572 76921497 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263793 S 1 1 0 NAV3 NA18507 esv272884 12 76921018 76921345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578949 S 7 1 0 Samples from several populations that are part of the HapMap project. NAV3 NA19239 esv269582 12 76921043 76921386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557825,essv2571670,essv2521211,essv2526299,essv2536785,essv2544069,essv2556677,essv2523349,essv2577250,essv2548597,essv2576555,essv2550303,essv2535448,essv2554243,essv2544233,essv2520639,essv2558411,essv2564663,essv2577738,essv2553712,essv2565431,essv2520166,essv2530789,essv2561790,essv2547012,essv2550177,essv2538920,essv2561652,essv2562812,essv2523696,essv2552743,essv2541222,essv2538323,essv2540460,essv2534845,essv2539916,essv2519640,essv2521989,essv2566075,essv2530980,essv2529060,essv2570159,essv2553394,essv2572563,essv2566833,essv2551129,essv2543639,essv2555579,essv2567281,essv2530165,essv2573823,essv2527605,essv2557758,essv2556053,essv2522613,essv2531526,essv2573362,essv2577176,essv2526830,essv2574884,essv2572875,essv2560205,essv2549877,essv2538078,essv2548994,essv2533298,essv2554731,essv2524895,essv2563116 M 157 69 0 Samples from several populations that are part of the HapMap project. NAV3 NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11840,NA11894,NA11918,NA11920,NA11992,NA11994,NA12004,NA12043,NA12045,NA12154,NA12234,NA12249,NA12287,NA12414,NA12716,NA12750,NA12751,NA12761,NA12763,NA12812,NA12815,NA12873,NA12874,NA12892,NA18511,NA18519,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18561,NA18563,NA18566,NA18571,NA18572,NA18573,NA18579,NA18593,NA18605,NA18609,NA18853,NA18858,NA18870,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18961,NA18964,NA18970,NA19005,NA19138,NA19143,NA19190,NA19225 esv6891 12 76935142 76935225 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29332 S 1 1 0 NAV3 SJK nsv781 12 76980274 77011472 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5438 S 9 1 0 NAV3 NA19129 nsv826443 12 76987874 76988527 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424497 S 31 1 0 NAV3 NA18582 dgv206n27 12 77003748 77028978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469484,nsv469483 M 1557 0 2 NAV3 1780862126_A,1780862176_A nsv469485 12 77007210 77038924 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544343 S 1557 0 1 NAV3 NINDS_91 dgv297n67 12 77058897 77140594 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826444,nsv826445 M 31 0 2 NAV3 NA18969,NA18973 nsv507656 12 77080890 77086890 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619079 S 4 1 0 NAV3 NA10860 esv2037758 12 77149458 77149887 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959515 S 1 0 1 "" NA18507 esv2247948 12 77198532 77198970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574692 S 1 0 1 "" NA18507 esv1204710 12 77198734 77198838 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283102 S 2 0 1 "" HuRef nsv53721 12 77212000 77212000 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72299 M 24 "" dgv42n17 12 77233641 77245356 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437763,nsv437762 M 60 0 2 "" NA19132,NA19208 nsv782 12 77275131 77299822 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4033 S 9 1 0 "" NA12878 nsv899321 12 77376455 77451779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555428 S 6533 0 1 "" MS21325 dgv1460n71 12 77383427 77488866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899324,nsv899322 M 6533 0 2 "" IS41895,MS22353 nsv899323 12 77400850 77776404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540866 S 6533 0 1 "" MS15065 dgv1461n71 12 77407789 77608737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899325,nsv899326 M 6533 0 2 "" MS17114,MS19634 nsv783 12 77430862 77462131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10874 S 9 1 0 "" NA18956 nsv899327 12 77453804 77546668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509471 S 6533 0 1 "" SP54792 nsv899328 12 77484142 77577911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567207 S 6533 0 1 "" IS31046 dgv1462n71 12 77512679 77623768 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899330,nsv899329,nsv899331 M 6533 0 3 "" IS35100,IS35771,IS36656 nsv784 12 77518282 77538832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1098 S 9 1 0 "" NA19240 esv1618512 12 77543907 77543907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821013 S 2 1 0 "" HuRef esv1145321 12 77543969 77544047 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032813 S 2 0 1 "" HuRef esv1542970 12 77695345 77695345 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975796 S 2 1 0 "" HuRef esv21523 12 77721605 77723031 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17134 S 451 0 1 "" NA15510 dgv1463n71 12 77781600 77829785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899332,nsv899333 M 6533 0 2 SYT1 IS30302,IS38487 nsv899334 12 77789538 77847633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578331 S 6533 0 1 SYT1 IS34758 esv1290661 12 77794765 77794765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154853 S 2 1 0 SYT1 HuRef nsv899335 12 77799185 77829785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562512 S 6533 0 1 SYT1 MS25617 esv1006890 12 77862078 77862153 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564508 S 3 1 0 SYT1 HuRef esv269546 12 77862122 77865964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500874,essv2511422,essv2508038,essv2503858,essv2510534,essv2494970,essv2506017,essv2498310,essv2503322,essv2513011,essv2497140,essv2500014,essv2508220,essv2499917,essv2504518,essv2507855,essv2506328,essv2511331,essv2500697,essv2494439,essv2512673,essv2508456,essv2508680,essv2496059,essv2512922,essv2507494,essv2505865,essv2507249,essv2507370,essv2495531,essv2511637,essv2497901,essv2503491,essv2505466,essv2500519,essv2495211,essv2502726,essv2500782,essv2512822,essv2501337,essv2510921,essv2499724,essv2499523,essv2513105 M 157 44 0 Samples from several populations that are part of the HapMap project. SYT1 NA07357,NA10847,NA11830,NA11920,NA12045,NA12761,NA18501,NA18520,NA18523,NA18526,NA18542,NA18547,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18582,NA18592,NA18603,NA18609,NA18638,NA18861,NA18870,NA18912,NA18916,NA18940,NA18945,NA18947,NA18952,NA18956,NA18964,NA18965,NA18973,NA18980,NA19093,NA19116,NA19225 nsv832466 12 77924622 78114570 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449916,nssv1449915 M 95 0 2 SYT1 nsv507657 12 78109427 78115427 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617836,nssv619080,nssv620511,nssv623115 M 4 4 0 SYT1 CHM,NA10860,NA15510,NA18994 nsv52925 12 78122786 78122966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71503 M 24 SYT1 nsv507658 12 78141397 78147397 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617837,nssv620512,nssv619081,nssv623116 M 4 4 0 SYT1 CHM,NA10860,NA15510,NA18994 nsv832467 12 78177317 78361646 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449918 S 95 0 1 MIR1252,SYT1 esv2547325 12 78374902 78400632 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308217 S 1 0 1 "" NA18507 nsv785 12 78404487 78432231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2001 S 9 1 0 "" NA18555 esv2461602 12 78443672 78445018 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164723 S 1 0 1 "" NA18507 esv271515 12 78555432 78555694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511844,essv2501170,essv2494838,essv2505820 M 157 4 0 Samples from several populations that are part of the HapMap project. PAWR NA18499,NA18516,NA18519,NA18861 nsv826446 12 78675925 78688491 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429339,nssv1432347,nssv1441441,nssv1434656,nssv1428578 M 31 5 0 "" AK10,AK12,AK20,NA18570,NA18969 nsv8995 12 78676350 78687450 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24396,nssv20778,nssv24099,nssv23947,nssv21389,nssv23905,nssv20486,nssv23097,nssv22078,nssv23283,nssv20124,nssv21609,nssv21045,nssv20630,nssv24160,nssv19282,nssv21577,nssv26070,nssv21197,nssv19039,nssv19682 M 31 2 19 Samples from several populations that are part of the HapMap project. "" NA07029,NA11830,NA12740,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820622 12 78676625 78687630 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421015 S 1 1 0 "" NA10851 nsv819344 12 78676629 78687482 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418599 S 2 0 1 "" AK1 esv23073 12 78677389 78687028 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20128,esv20835 M 451 5 29 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv786 12 78678334 78696466 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10906,nssv6517,nssv4034 M 9 3 0 PPP1R12A NA12156,NA12878,NA15510 nsv826447 12 78678933 78686571 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438386,nssv1424498,nssv1439216,nssv1422098 M 31 4 0 "" NA18582,NA18951,NA18973,NA18997 nsv85 12 78679070 78684395 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv85 S 1 1 0 "" NA15510 esv33677 12 78683654 78692111 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96916 S 51 0 1 PPP1R12A 21817 nsv899336 12 78698368 78909358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519658 S 6533 0 1 PPP1R12A SP50101 nsv818927 12 78713475 78750118 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416387,nssv1416388 M 112 0 2 PPP1R12A NA18855,NA18857 nsv507659 12 78754631 78760631 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623117 S 4 1 0 PPP1R12A NA18994 esv267837 12 78785399 78785655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496741,essv2509876,essv2496369 M 157 3 0 Samples from several populations that are part of the HapMap project. PPP1R12A NA18498,NA18508,NA18510 nsv510306 12 78790594 78796594 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618370,nssv621387 M 4 0 2 PPP1R12A CHM,NA15510 nsv787 12 78805957 78840889 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4035 S 9 1 0 PPP1R12A NA12878 esv268634 12 78833901 78834111 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546288,essv2570719,essv2540046,essv2550085,essv2563072,essv2553060,essv2542699,essv2540526,essv2549223,essv2519698,essv2531251,essv2553302,essv2572542,essv2559146,essv2542109,essv2528111,essv2562247,essv2555426,essv2533433,essv2543333,essv2529587,essv2523952,essv2533014 M 157 23 0 Samples from several populations that are part of the HapMap project. PPP1R12A NA07051,NA11881,NA12044,NA18489,NA18511,NA18532,NA18542,NA18550,NA18552,NA18564,NA18566,NA18573,NA18605,NA18609,NA18638,NA18856,NA18907,NA18909,NA18943,NA18944,NA18965,NA19093,NA19129 nsv507660 12 78868897 78874897 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617838,nssv620513,nssv619082,nssv623118 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv8565 12 78907147 78907215 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31006 S 1 1 0 "" SJK esv1002595 12 78907208 78907208 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570765 S 3 1 0 "" HuRef nsv53040 12 78907210 78907210 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71618 M 24 "" nsv437764 12 78952152 78969935 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467645 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv438221 12 78961464 78962049 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470493,nssv470492 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18521,NA18522 nsv899337 12 78989089 79060561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516429 S 6533 0 1 "" SP56833 esv273368 12 79004824 79005152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584350,essv2584676,essv2583346 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv21893 12 79052573 79056037 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18382 S 451 0 1 "" NA12828 nsv832468 12 79064571 79274938 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449919 S 95 1 0 OTOGL esv3410 12 79097982 79098317 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25851 S 1 0 1 Single Asian sample YH "" YH esv1634952 12 79098223 79098223 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201759 S 2 1 0 "" HuRef nsv826448 12 79101790 79102342 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427765 S 31 1 0 "" AK8 nsv521152 12 79215878 79236063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697816 S 2026 0 1 OTOGL nsv832469 12 79232370 79450738 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449920 S 95 0 1 OTOGL,PTPRQ nsv7231 12 79338087 79421213 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10875,nssv9841,nssv6518,nssv9285,nssv9284,nssv5439,nssv9842 M 9 0 0 PTPRQ NA12156,NA18507,NA18517,NA18956,NA19129 nsv826449 12 79347786 79352358 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431571,nssv1423696 M 31 0 2 "" AK18,NA18999 esv22810 12 79348033 79352341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13494 S 451 0 1 "" NA18916 nsv442279 12 79349306 79352242 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470306 12 79350317 79392839 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546970 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRQ HGDP00907 nsv517140 12 79350318 79351726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659774,nssv679042,nssv653854,nssv677913,nssv678806 M 2026 0 5 "" nsv523953 12 79350318 79478989 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699802 S 2026 1 0 PTPRQ nsv511021 12 79356314 79394117 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618615,nssv621618 M 4 0 0 PTPRQ CHM,NA15510 dgv1464n71 12 79364902 79472456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899338,nsv899339 M 6533 0 2 PTPRQ MS22104,SP54030 esv992424 12 79366712 79385669 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564913 S 3 0 0 PTPRQ HuRef dgv13n50 12 79368272 79383412 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513698,nsv513699 M 1 0 0 PTPRQ 1 nsv499500 12 79369049 79382017 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585502 S 9 0 0 PTPRQ esv1048560 12 79370385 79381831 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732760 S 2 0 0 PTPRQ HuRef nsv435978 12 79372951 79383143 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466718 S 2 0 0 PTPRQ NA15510 nsv507661 12 79376169 79382169 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619084,nssv623119 M 4 2 0 PTPRQ NA10860,NA18994 nsv826450 12 79385736 79395304 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422099 S 31 0 1 PTPRQ NA18997 dgv1465n71 12 79414823 79478989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899342,nsv899341,nsv899340 M 6533 0 5 PTPRQ IS31054,IS31179,IS32150,IS35100,IS36219 esv22855 12 79418969 79426759 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10732 S 451 0 2 PTPRQ NA18502,NA18907 nsv470307 12 79421527 79467800 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546971 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRQ HGDP01216 dgv207n27 12 79421527 79472456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469487,nsv469486 M 1557 0 2 PTPRQ 1780854449_A,1780862470_A nsv469488 12 79460213 79526783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544346 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRQ HGDP00616 nsv826451 12 79619614 79620411 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427766 S 31 1 0 "" AK8 nsv789 12 79838287 79884339 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6519 S 9 0 1 LIN7A,MIR618 NA12156 esv269763 12 79839333 79839585 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565632,essv2521048,essv2536765,essv2577232,essv2547141,essv2529375,essv2558367,essv2564331,essv2564131,essv2540150,essv2520767,essv2556822,essv2552703,essv2551649,essv2532207,essv2562571,essv2569206,essv2578569,essv2550172,essv2558878,essv2536994,essv2538887,essv2527220,essv2561442,essv2544840,essv2523903,essv2541121,essv2538386,essv2524436,essv2534758,essv2539543,essv2549181,essv2519634,essv2559787,essv2522185,essv2566148,essv2530906,essv2532570,essv2541555,essv2553470,essv2535700,essv2572457,essv2559141,essv2569111,essv2543672,essv2556282,essv2527792,essv2562376,essv2539257,essv2555305,essv2555731,essv2567040,essv2527570,essv2534429,essv2522469,essv2525766,essv2529692,essv2575539,essv2575288,essv2538469,essv2526403,essv2524141,essv2574831,essv2530443,essv2568802,essv2560501,essv2549874,essv2571123,essv2545923,essv2574480,essv2551558,essv2538138,essv2547969 M 157 73 0 Samples from several populations that are part of the HapMap project. LIN7A NA07000,NA07347,NA11829,NA11894,NA11920,NA12043,NA12717,NA12749,NA12750,NA12751,NA12828,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18592,NA18605,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18943,NA18945,NA18947,NA18952,NA18959,NA18960,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273340 12 79839334 79839577 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584028,essv2584760,essv2583382 M 7 3 0 Samples from several populations that are part of the HapMap project. LIN7A NA19238,NA19239,NA19240 nsv53642 12 79924040 79924406 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72220 M 24 "" nsv899343 12 80315758 80395156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545857 S 6533 0 1 PPFIA2 MS16986 nsv521788 12 80457339 80499578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694556 S 2026 0 1 PPFIA2 nsv470308 12 80466293 80516676 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546972 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPFIA2 HGDP01303 nsv820229 12 80481267 80486481 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419693 S 2 1 0 PPFIA2 AK1 nsv53023 12 80502787 80502787 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71601 M 24 PPFIA2 esv1228005 12 80502910 80502910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176731 S 2 1 0 PPFIA2 HuRef esv2496739 12 80541590 80543723 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298999 S 1 0 1 PPFIA2 NA18507 nsv826452 12 80554664 80556628 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424499 S 31 0 1 PPFIA2 NA18582 esv1408686 12 80560613 80560613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814704 S 2 1 0 PPFIA2 HuRef dgv1466n71 12 80611010 80836168 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899345,nsv899344 M 6533 0 2 PPFIA2 MS17114,MS20286 dgv298n67 12 80628329 80633203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826454,nsv826455,nsv826456 M 31 0 10 PPFIA2 AK16,AK4,AK8,NA18526,NA18537,NA18552,NA18566,NA18968,NA18997,NA18999 nsv498797 12 80628613 80633179 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585658 S 9 0 1 PPFIA2 nsv790 12 80651228 80670941 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2002 S 9 0 1 PPFIA2 NA18555 nsv511491 12 80654496 80671618 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626108 S 1 0 1 PPFIA2 1 nsv512285 12 80663533 80668727 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624862 S 1 0 1 PPFIA2 1 dgv299n67 12 80663645 80668462 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826458,nsv826457 M 31 0 15 PPFIA2 AK14,AK16,AK2,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18968,NA18997,NA18999 esv2776 12 80663778 80668678 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25217 S 1 0 1 Single Asian sample YH PPFIA2 YH esv24976 12 80663827 80668820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10156 S 451 0 6 PPFIA2 NA11993,NA12004,NA12006,NA12287,NA12414,NA12828 esv9497 12 80663846 80668455 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31938 S 1 0 1 PPFIA2 SJK nsv498798 12 80663846 80668455 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585659 S 9 0 1 PPFIA2 nsv514675 12 80663896 80667856 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628153 S 1414 0 1 PPFIA2 nsv899346 12 80715574 80836168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581419 S 6533 0 1 "" IS35572 nsv899347 12 80715574 81041343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546297 S 6533 1 0 "" MS17128 nsv791 12 80730274 80757053 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1099 S 9 0 1 "" NA19240 nsv498799 12 80739575 80749495 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585660 S 9 0 1 "" esv29449 12 80739639 80749438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16195 S 451 0 1 "" NA19240 nsv514676 12 80739776 80748248 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628154 S 1414 0 1 "" esv2421941 12 80740001 80746683 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085582,essv5110106,essv5160741,essv5086086,essv5104269,essv5113520,essv5117808,essv5084403,essv5006981,essv5102914,essv5054939,essv5106342,essv5139104,essv5159975,essv5111241,essv5049910,essv5050136,essv5140129,essv5099090,essv5063485,essv5044399,essv5083950,essv5077001,essv5110784,essv5022161,essv5091303,essv5082493,essv5057946,essv5139359,essv5073097,essv5062403,essv5013805,essv5149190,essv5121853,essv5015258,essv5151466,essv5034731,essv5090865 M 1184 0 38 "" NA18510,NA18518,NA18519,NA19093,NA19094,NA19107,NA19140,NA19142,NA19182,NA19183,NA19200,NA19202,NA19210,NA19224,NA19226,NA19238,NA19240,NA19248,NA19700,NA19703,NA19713,NA19714,NA19755,NA19757,NA19760,NA19763,NA19901,NA19902,NA19915,NA19917,NA19985,NA20282,NA20302,NA20332,NA20333,NA21295,NA21336,NA21574 nsv469489 12 80743225 80800254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544347 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01100 nsv53530 12 80744429 80744429 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72108 M 24 "" nsv53409 12 80744441 80744441 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71987 M 24 "" esv1767079 12 80824611 80824881 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621726 S 2 0 1 "" HuRef esv1405602 12 80845941 80845941 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843112 S 2 1 0 "" HuRef esv2627158 12 81072780 81074241 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195887 S 1 0 1 "" NA18507 nsv832471 12 81103084 81279491 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449931,nssv1449922,nssv1449930,nssv1449925,nssv1449927,nssv1449929,nssv1449926,nssv1449923,nssv1449934,nssv1449924,nssv1449933,nssv1449921,nssv1449932 M 95 0 13 C12orf26,CCDC59 nsv53259 12 81260491 81260548 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71837 M 24 "" nsv899348 12 81268318 81693428 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573407 S 6533 1 0 C12orf26,CCDC59,TMTC2 IS33351 nsv519197 12 81355976 81580607 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696682 S 2026 1 0 C12orf26 esv267696 12 81371141 81371317 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504075,essv2505177 M 157 2 0 Samples from several populations that are part of the HapMap project. C12orf26 NA18505,NA18853 nsv899349 12 81455777 81638417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590267 S 6533 1 0 TMTC2 IS38479 esv274548 12 81480572 81480844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580237,essv2580307 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv438222 12 81480762 81492429 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470495,nssv470494 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19210,NA19211 esv269853 12 81521721 81521806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514626 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv521849 12 81537914 82515610 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694624 S 2026 1 0 TMTC2 esv272936 12 81585612 81585944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584518,essv2583514 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269911 12 81585612 81585946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540678,essv2576599,essv2520664,essv2547509,essv2554875,essv2520770,essv2569620,essv2544565,essv2523909,essv2553010,essv2534606,essv2549494,essv2553323,essv2572519,essv2533981,essv2578295,essv2533803,essv2538577,essv2560894,essv2545022,essv2545796,essv2574388,essv2536078,essv2548734,essv2548007 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA11831,NA12154,NA12716,NA12717,NA12872,NA18498,NA18508,NA18526,NA18537,NA18542,NA18561,NA18564,NA18605,NA18609,NA18916,NA18940,NA18944,NA19108,NA19137,NA19172,NA19239,NA19240 esv1008305 12 81604907 81605362 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587271 S 3 0 1 TMTC2 HuRef esv5126 12 81607144 81607473 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27567 S 1 0 1 Single Asian sample YH TMTC2 YH nsv507662 12 81608426 81614426 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623120 S 4 1 0 TMTC2 NA18994 nsv469490 12 81613562 82031400 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544348 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMTC2 HGDP01181 dgv523e1 12 81625176 81881752 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv513,essv22210 M 271 0 0 TMTC2 NA12044 nsv469491 12 81632526 81727873 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544349 S 1557 0 1 TMTC2 1798860071_A esv999149 12 81662003 81730473 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586050 S 3 0 1 TMTC2 HuRef esv1003105 12 81690952 81737652 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565042 S 3 0 1 TMTC2 HuRef nsv899350 12 81691087 81727873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572501 S 6533 0 1 TMTC2 IS33087 nsv899351 12 81691087 81744170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577731,nssv1599510,nssv1599944 M 6533 0 3 TMTC2 IS34543,IS41648,IS41818 dgv33e180 12 81691484 81737260 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv992885,esv1008090,esv999382 M 3 0 1 TMTC2 HuRef essv19112 12 81692244 81725746 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. TMTC2 NA12044 esv30004 12 81692244 81732514 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84243 S 2 0 1 TMTC2 HuRef nsv469492 12 81692747 81730473 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544350 S 1557 0 1 TMTC2 NINDS_35 nsv516625 12 81692747 81730473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669641,nssv693872,nssv659683 M 2026 0 3 TMTC2 nsv818928 12 81692747 81730473 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416961 S 112 0 1 TMTC2 NA12044 nsv469494 12 81727873 81730473 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544352 S 1557 0 1 TMTC2 NINDS_92 nsv437765 12 81754585 81796064 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467646 S 60 0 1 Samples from several populations that are part of the HapMap project. TMTC2 NA19094 esv2421910 12 81764343 81767904 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5040285,essv5016802,essv5114086,essv5031466,essv5010594,essv5096297,essv5095656,essv5022574,essv5097804,essv5015241,essv5137547,essv5131000,essv5110824,essv5137679,essv5027919 M 1184 0 15 TMTC2 NA18917,NA18930,NA19046,NA19093,NA19094,NA19122,NA19207,NA19208,NA19315,NA19373,NA19374,NA19375,NA19376,NA21408,NA21616 nsv442650 12 81766030 81767904 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMTC2 nsv832472 12 81772414 81943884 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449935 S 95 0 1 TMTC2 esv29204 12 81790628 81794250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12590 S 451 0 1 TMTC2 NA19108 esv1419949 12 81818511 81818511 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086668 S 2 1 0 TMTC2 HuRef nsv469495 12 81864064 81898910 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544353 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMTC2 HGDP01306 esv2016291 12 81881524 81881952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938138 S 1 0 1 TMTC2 NA18507 esv1011810 12 81915271 81915271 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342731 S 2 1 0 TMTC2 HuRef nsv523902 12 81941606 81947471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699745 S 2026 0 1 TMTC2 esv9165 12 81969013 81969102 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31606 S 1 1 0 TMTC2 SJK nsv899352 12 82080389 82195559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599779 S 6533 1 0 "" IS41786 nsv8996 12 82132575 82138137 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24422 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv510604 12 82138624 82203648 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620050 S 4 0 1 "" NA15510 nsv792 12 82140026 82156872 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10907 S 9 0 1 "" NA15510 nsv86 12 82140026 82156872 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv86 S 1 0 1 "" NA15510 nsv498800 12 82145970 82152516 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585661 S 9 0 1 "" nsv524863 12 82188447 82195559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700868 S 2026 0 1 "" nsv899353 12 82279992 82316478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515908 S 6533 0 1 "" SP56307 nsv899354 12 82279992 82337800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582992 S 6533 0 1 "" IS36219 esv2595253 12 82367327 82369199 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310849 S 1 0 1 "" NA18507 nsv512286 12 82367708 82369134 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624863 S 1 0 1 "" 1 esv2064399 12 82367982 82368935 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685413 S 1 0 1 "" NA18507 esv8362 12 82368115 82368766 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30803 S 1 0 1 "" SJK esv4788 12 82368119 82368799 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27229 S 1 0 1 Single Asian sample YH "" YH nsv52734 12 82368176 82368739 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71312 M 24 "" esv1006639 12 82368183 82368746 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576739 S 3 0 1 "" HuRef esv1538809 12 82368191 82368755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603418 S 2 0 1 "" HuRef esv275030 12 82416061 82423506 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585201,essv2586058 M 1250 1 1 "" nsv793 12 82430725 82466494 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4036,nssv5441 M 9 2 0 "" NA12878,NA19129 esv2564687 12 82483037 82484555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344195 S 1 0 1 "" NA18507 esv2060529 12 82483158 82483886 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659396 S 1 0 1 "" NA18507 esv3086 12 82483322 82483787 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25527 S 1 0 1 Single Asian sample YH "" YH esv1000321 12 82483353 82483668 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582017 S 3 0 1 "" HuRef esv1661413 12 82483361 82483677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680008 S 2 0 1 "" HuRef esv9105 12 82483369 82483659 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31546 S 1 0 1 "" SJK nsv826459 12 82507961 82509450 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435474 S 31 1 0 "" NA18592 nsv469496 12 82538490 82598606 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544354 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00736 nsv899355 12 82559598 82671426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594637 S 6533 1 0 "" IS39961 esv2447749 12 82565764 82567164 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380391 S 1 0 1 "" NA18507 esv2257450 12 82566219 82566927 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797162 S 1 0 1 "" NA18507 nsv53664 12 82566416 82566728 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72242 M 24 "" nsv469497 12 82589455 82678134 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544355 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01053 esv274153 12 82610224 82610559 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581991,essv2582382,essv2583275,essv2584755,essv2583688 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv271580 12 82610226 82610559 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557802,essv2565809,essv2540765,essv2546252,essv2521177,essv2522736,essv2545321,essv2523230,essv2548568,essv2576873,essv2550654,essv2525237,essv2535489,essv2520649,essv2564515,essv2577799,essv2564181,essv2555130,essv2530659,essv2537223,essv2528258,essv2546834,essv2556878,essv2552386,essv2532091,essv2561657,essv2542622,essv2528782,essv2528097,essv2533815,essv2566604,essv2522480,essv2572062,essv2560833,essv2572801,essv2545934,essv2574456,essv2547954,essv2563459 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11931,NA12003,NA12004,NA12045,NA12154,NA12155,NA12156,NA12249,NA12716,NA12751,NA12761,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18523,NA18550,NA18579,NA18907,NA18916,NA18948,NA18960,NA18973,NA19137,NA19143,NA19239,NA19240 nsv899356 12 82627746 82737830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550650 S 6533 1 0 "" MS18510 nsv899357 12 82627746 82753385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566632 S 6533 0 1 "" IS30829 nsv438223 12 82684646 82691614 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470497,nssv470498 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18608,NA18960 dgv1467n71 12 82685846 82849813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899358,nsv899360 M 6533 0 2 "" IS31046,IS35229 nsv442651 12 82687421 82689372 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv53839 12 82687936 82688142 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72417 M 24 "" nsv899359 12 82688512 82698544 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545034 S 6533 1 0 "" MS16643 esv271777 12 82689594 82689899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558174,essv2541068,essv2521197,essv2576905,essv2557094,essv2551684,essv2562518,essv2533940,essv2538547,essv2560866,essv2568715,essv2545841,essv2574080,essv2548679,essv2547735 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA10851,NA11831,NA11894,NA12154,NA18501,NA18504,NA18909,NA18916,NA19108,NA19137,NA19147,NA19239,NA19240 esv272354 12 82689594 82689935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584452,essv2583360 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv832473 12 82690976 82845136 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449938,nssv1449936,nssv1449937 M 95 2 1 "" nsv899361 12 82713777 83253799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597924 S 6533 0 1 MIR548T IS41113 nsv899362 12 82755756 82867378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541192 S 6533 0 1 "" MS15199 nsv826460 12 82968451 82969415 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427770 S 31 1 0 "" AK8 dgv1468n71 12 82974955 83591945 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899369,nsv899365,nsv899363 M 6533 0 3 MIR548T IS31041,MS15199,MS18620 nsv469500 12 82997682 83284735 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544356 S 1557 1 0 MIR548T 1780862540_A nsv899364 12 83004422 83187429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567690,nssv1580131 M 6533 0 2 MIR548T IS31137,IS35229 esv2435279 12 83008212 83009882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319502 S 1 0 1 "" NA18507 esv2382659 12 83008437 83009150 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917322 S 1 0 1 "" NA18507 esv8026 12 83008621 83008939 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30467 S 1 0 1 "" SJK esv1155658 12 83008624 83008940 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729559 S 2 0 1 "" HuRef nsv899366 12 83040643 83113803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509668 S 6533 0 1 MIR548T SP54937 dgv1469n71 12 83046801 83187429 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899368,nsv899367 M 6533 0 9 MIR548T IS31044,IS31166,IS32615,IS35189,IS39119,IS39900,IS40067,MS12266,MS21470 nsv899370 12 83095611 83253799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568454 S 6533 0 1 MIR548T IS31285 nsv511503 12 83104356 83120766 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626122 S 1 1 0 MIR548T 1 esv989208 12 83113031 83120472 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564345 S 3 0 1 MIR548T HuRef dgv300n67 12 83117131 83120214 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826461,nsv826463,nsv826462 M 31 0 29 MIR548T AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821492 12 83117131 83120214 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421016 S 1 0 1 MIR548T NA10851 esv28318 12 83117253 83119828 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12512,esv10398 M 451 27 2 MIR548T NA06985,NA07037,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 esv33089 12 83117333 83120576 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98814,essv98326,essv94456,essv97020,essv100066,essv99691,essv100337,essv99497 M 51 5 3 MIR548T 21606,21772,21808,21817,22086,22217,22300,22335 esv28808 12 83136711 83138800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11090 S 451 0 1 MIR548T NA18508 esv1447979 12 83139125 83139243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248103 S 2 0 1 MIR548T HuRef nsv832474 12 83158989 83324554 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449940,nssv1449941 M 95 2 0 MIR548T dgv1470n71 12 83174432 83354288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899372,nsv899371 M 6533 0 4 MIR548T IS35675,IS41922,IS41926,MS22322 nsv826465 12 83176777 83177299 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432349 S 31 1 0 MIR548T AK20 esv991276 12 83236641 83247754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565244 S 3 0 1 MIR548T HuRef nsv442280 12 83237406 83241893 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR548T nsv53451 12 83270530 83277477 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72029 M 24 MIR548T nsv899373 12 83415934 83524053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598592 S 6533 0 1 MIR548T IS41113 esv1104954 12 83424574 83424574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172781 S 2 1 0 MIR548T HuRef nsv523684 12 83436631 83448415 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699488 S 2026 0 1 MIR548T esv272345 12 83479288 83481153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579840 S 7 1 0 Samples from several populations that are part of the HapMap project. MIR548T NA12892 esv270004 12 83479289 83481178 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510117,essv2500859,essv2503235,essv2506796,essv2495307,essv2505092,essv2508001,essv2510355,essv2507729,essv2493400,essv2511781,essv2510740,essv2493247,essv2509766,essv2496519,essv2496241,essv2493819,essv2494980,essv2509127,essv2498330,essv2508284,essv2507877,essv2500616,essv2507586,essv2512917,essv2505237,essv2501004,essv2505708,essv2507161,essv2513501,essv2509278,essv2507327,essv2497895,essv2503485,essv2505483,essv2512765,essv2504765,essv2506934,essv2498935,essv2497672,essv2497087,essv2499693,essv2512152,essv2497990,essv2502022,essv2503597,essv2495792,essv2495024,essv2511515,essv2513068 M 157 50 0 Samples from several populations that are part of the HapMap project. MIR548T NA06986,NA07000,NA07051,NA07346,NA10847,NA11829,NA11830,NA11881,NA11918,NA11992,NA11995,NA12003,NA12414,NA12751,NA12776,NA18499,NA18501,NA18504,NA18508,NA18510,NA18511,NA18517,NA18520,NA18522,NA18526,NA18561,NA18564,NA18571,NA18576,NA18609,NA18853,NA18856,NA18861,NA18870,NA18907,NA18909,NA18912,NA18945,NA18947,NA18952,NA18980,NA19099,NA19102,NA19138,NA19147,NA19190,NA19225,NA19238,NA19240,NA19257 esv271982 12 83489246 83490213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541037,essv2546452,essv2521344,essv2522908,essv2531791,essv2548237,essv2576765,essv2525483,essv2550424,essv2534998,essv2520680,essv2529202,essv2553854,essv2521009,essv2557335,essv2557206,essv2552730,essv2527195,essv2561365,essv2541171,essv2542803,essv2540312,essv2565145,essv2539673,essv2549401,essv2559817,essv2567712,essv2528933,essv2567573,essv2541519,essv2570140,essv2559166,essv2541881,essv2550948,essv2543659,essv2534109,essv2555434,essv2533498,essv2574036,essv2534265,essv2573447,essv2543084,essv2573274,essv2576968,essv2529620,essv2524161,essv2568764,essv2571264,essv2545918,essv2574298,essv2524879 M 157 51 0 Samples from several populations that are part of the HapMap project. MIR548T NA07357,NA11831,NA11881,NA11894,NA11931,NA12006,NA12045,NA12154,NA12156,NA12234,NA12249,NA12716,NA12749,NA12763,NA18498,NA18499,NA18501,NA18502,NA18522,NA18523,NA18545,NA18550,NA18552,NA18558,NA18563,NA18564,NA18570,NA18577,NA18579,NA18582,NA18592,NA18593,NA18638,NA18856,NA18858,NA18870,NA18916,NA18943,NA18944,NA18951,NA18959,NA18964,NA18965,NA18969,NA18970,NA19093,NA19129,NA19147,NA19238,NA19239,NA19240 esv273189 12 83489247 83490202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584005,essv2584745,essv2583300 M 7 3 0 Samples from several populations that are part of the HapMap project. MIR548T NA19238,NA19239,NA19240 nsv832475 12 83504953 83712894 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449943,nssv1449942,nssv1449947,nssv1449944,nssv1449946,nssv1449945,nssv1449948 M 95 7 0 MIR548T nsv899374 12 83512247 83565405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569585 S 6533 0 1 MIR548T IS31634 esv2055438 12 83533272 83533619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810995 S 1 0 1 MIR548T NA18507 esv1640502 12 83533599 83533599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238795 S 2 1 0 MIR548T HuRef esv1632313 12 83533947 83534010 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846488 S 2 0 1 MIR548T HuRef esv1763181 12 83534016 83534076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075621 S 2 0 1 MIR548T HuRef nsv899375 12 83538285 83585605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502060 S 6533 1 0 MIR548T SP50761 esv21896 12 83560320 83564927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20533 S 451 0 1 MIR548T NA12006 nsv469503 12 83565405 83636607 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544357 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548T HGDP00643 esv4391 12 83598409 83598996 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26832 S 1 0 1 Single Asian sample YH "" YH esv2125865 12 83598608 83599029 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733725 S 1 0 1 "" NA18507 nsv899376 12 83681477 83863385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597457 S 6533 0 1 SLC6A15 IS41113 nsv899377 12 83681477 84153372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580132 S 6533 0 1 LRRIQ1,SLC6A15,TSPAN19 IS35229 nsv899378 12 83743531 83839996 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552864 S 6533 0 1 SLC6A15 MS19634 nsv470309 12 83748272 83863385 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546973,nssv546974 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC6A15 HGDP00875,HGDP01216 nsv899379 12 83750362 83809353 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579710 S 6533 1 0 SLC6A15 IS35167 dgv1471n71 12 83756207 83869285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899381,nsv899382,nsv899384,nsv899386,nsv899385,nsv899380 M 6533 0 10 SLC6A15 IS30330,IS30539,IS30593,IS31703,IS31765,IS35196,IS36533,IS39923,MS18847,MS20872 nsv899383 12 83757862 83863385 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567241,nssv1588882,nssv1567326,nssv1567101,nssv1571182,nssv1546204,nssv1565652,nssv1566781,nssv1587263,nssv1593233,nssv1536547,nssv1594606,nssv1567422,nssv1581853,nssv1569729,nssv1567398,nssv1594494,nssv1584044 M 6533 1 17 SLC6A15 IS30490,IS30923,IS31044,IS31054,IS31067,IS31074,IS31081,IS31679,IS32615,IS35742,IS36787,IS37999,IS38263,IS39373,IS39900,IS39944,MS12827,MS17114 dgv208n27 12 83773349 83863385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455668,nsv455667 M 1557 0 2 SLC6A15 1780862194_A,1782681093_A nsv794 12 83879179 83913551 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9051 S 9 0 1 "" NA12156 esv28121 12 83887415 83888617 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14743 S 451 0 1 "" NA18909 nsv510605 12 83950665 83957031 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622662 S 4 0 1 LRRIQ1,TSPAN19 NA18994 nsv899387 12 83951822 84153372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581854 S 6533 0 1 LRRIQ1,TSPAN19 IS35742 nsv899388 12 83951822 84290978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546205 S 6533 0 1 ALX1,LRRIQ1,TSPAN19 MS17114 nsv899389 12 83954318 84023263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514460 S 6533 0 1 LRRIQ1 SP56004 nsv899390 12 83990854 84023263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515608 S 6533 0 1 LRRIQ1 SP56224 esv2638439 12 84030097 84030582 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319661 S 1 1 0 LRRIQ1 NA18507 esv271261 12 84030376 84031206 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510278,essv2503193,essv2506771,essv2511430,essv2511239,essv2495297,essv2499342,essv2502297,essv2512424,essv2499472,essv2502921,essv2503376,essv2502597,essv2507719,essv2503836,essv2493423,essv2493384,essv2505012,essv2512504,essv2496779,essv2511915,essv2510623,essv2494181,essv2496443,essv2494880,essv2506304,essv2500988,essv2498485,essv2513462,essv2495667,essv2501395,essv2506672,essv2499126,essv2498721,essv2497626,essv2496895,essv2501956,essv2502141,essv2503652,essv2499497,essv2513090 M 157 41 0 Samples from several populations that are part of the HapMap project. LRRIQ1 NA06986,NA07357,NA10847,NA10851,NA11881,NA11918,NA11920,NA11931,NA11992,NA11994,NA12004,NA12043,NA12044,NA12156,NA12716,NA12750,NA12751,NA12761,NA12763,NA12776,NA12828,NA18489,NA18498,NA18499,NA18501,NA18502,NA18510,NA18520,NA18523,NA18856,NA18858,NA18907,NA18916,NA19093,NA19108,NA19114,NA19138,NA19147,NA19190,NA19239,NA19257 esv273028 12 84030378 84031168 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580966,essv2579598 M 7 2 0 Samples from several populations that are part of the HapMap project. LRRIQ1 NA19238,NA19240 nsv899391 12 84043377 84100623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565967 S 6533 0 1 LRRIQ1 IS30539 esv271530 12 84064933 84065194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516627 S 157 1 0 Samples from several populations that are part of the HapMap project. LRRIQ1 NA11881 nsv826466 12 84071624 84072947 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424501 S 31 1 0 LRRIQ1 NA18582 nsv819416 12 84071791 84071952 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419769 S 2 1 0 LRRIQ1 AK1 esv270571 12 84141814 84142124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496590,essv2493752,essv2505687,essv2509207,essv2510819,essv2509411,essv2498880,essv2499629 M 157 8 0 Samples from several populations that are part of the HapMap project. LRRIQ1 NA18486,NA18517,NA18861,NA18909,NA19116,NA19129,NA19138,NA19225 nsv899392 12 84162220 84258200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580044 S 6533 0 1 ALX1,LRRIQ1 IS35227 esv1530343 12 84168871 84168871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600143 S 2 1 0 "" HuRef esv1593135 12 84175106 84175106 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314428 S 2 1 0 "" HuRef dgv1472n71 12 84198838 84321099 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899393,nsv899394 M 6533 0 3 ALX1 IS30141,MS21189,MS21258 esv271489 12 84210823 84210908 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517203 S 157 1 0 Samples from several populations that are part of the HapMap project. ALX1 NA18970 nsv455678 12 84222948 84309240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533186 S 1557 0 1 "" 1782681096_A esv2751125 12 84408989 84622371 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989742,essv6983142,essv6983143 M 771 0 1 "" BEC_547 nsv795 12 84417523 84462253 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9052 S 9 0 1 "" NA12156 nsv455679 12 84432527 84548880 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533187 S 1557 0 1 "" 1780862414_A esv2751126 12 84436563 84585534 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985148,essv6989478,essv6990086,essv6985147 M 771 0 1 "" SPC_108 nsv520857 12 84443443 84451993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688792,nssv676413 M 2026 0 2 "" nsv523422 12 84463550 84519864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699176 S 2026 0 1 "" esv2543561 12 84538853 84540140 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240090 S 1 0 1 "" NA18507 nsv522439 12 84545129 84590397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705797 S 2026 0 1 "" esv1001517 12 84558252 84558252 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570698 S 3 1 0 "" HuRef nsv796 12 84603939 84630459 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4037 S 9 1 0 "" NA12878 nsv455680 12 84644941 84684408 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533188 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00752 esv2142181 12 84657228 84657638 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646094 S 1 0 1 "" NA18507 esv1957648 12 84667354 84667759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565576 S 1 0 1 "" NA18507 esv2260070 12 84677284 84677695 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654188 S 1 0 1 "" NA18507 esv1042104 12 84797294 84797294 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701935 S 2 1 0 NTS HuRef esv271651 12 84824864 84824949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519456 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 nsv516647 12 84840372 84842135 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676414,nssv669865 M 2026 0 2 "" esv268985 12 84847558 84847897 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517477,essv2518596,essv2514943,essv2516374,essv2515684 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12287,NA12812,NA12814,NA12815 nsv797 12 84867625 84901580 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2888 S 9 1 0 MGAT4C NA18555 nsv832476 12 84913882 85021253 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449949 S 95 0 1 MGAT4C nsv798 12 84923953 84971582 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6520 S 9 0 1 MGAT4C NA12156 nsv518059 12 84940343 85271857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695470 S 2026 0 1 MGAT4C nsv820997 12 84950117 84958960 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421017 S 1 0 1 MGAT4C NA10851 esv27128 12 84950225 84957967 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17358 S 451 15 1 MGAT4C NA07037,NA11931,NA12414,NA12878,NA18502,NA18508,NA18511,NA18517,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240 nsv470311 12 85008497 85074914 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546975 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MGAT4C HGDP00875 esv2604566 12 85046338 85048099 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362695 S 1 0 1 MGAT4C NA18507 esv3395 12 85047370 85047832 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25836 S 1 0 1 Single Asian sample YH MGAT4C YH esv5822 12 85047455 85047770 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28263 S 1 0 1 MGAT4C SJK esv1509471 12 85047456 85047776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188375 S 2 0 1 MGAT4C HuRef esv2539626 12 85047457 85047776 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185084 S 1 0 1 MGAT4C NA18507 nsv510606 12 85069580 85079433 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618896 S 4 0 1 MGAT4C NA10860 nsv800 12 85096510 85142018 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6521 S 9 0 1 MGAT4C NA12156 esv21585 12 85128848 85133154 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11568 S 451 1 0 MGAT4C NA15510 nsv801 12 85151503 85200842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4038,nssv5442,nssv2003,nssv6522,nssv1101 M 9 5 0 MGAT4C NA12156,NA12878,NA18555,NA19129,NA19240 nsv509473 12 85172332 85173595 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623629,nssv619610,nssv618094,nssv620975 M 4 4 0 MGAT4C CHM,NA10860,NA15510,NA18994 esv2625711 12 85176342 85178342 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230001 S 1 0 1 MGAT4C NA18507 esv994139 12 85176552 85177704 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563921 S 3 1 0 MGAT4C HuRef nsv802 12 85207889 85247815 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9950,nssv5443 M 9 0 2 MGAT4C NA18507,NA19129 esv2529439 12 85219141 85227999 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359610 S 1 0 1 MGAT4C NA18507 esv2471686 12 85219377 85228108 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342162 S 1 0 1 MGAT4C NA18507 nsv819565 12 85219570 85227402 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419845 S 2 0 1 MGAT4C AK1 esv2131445 12 85219663 85227361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592673 S 1 0 1 MGAT4C NA18507 dgv301n67 12 85219790 85227302 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826467,nsv826468 M 31 0 3 MGAT4C AK10,NA18547,NA18972 nsv514678 12 85219808 85227160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628155 S 1414 0 1 MGAT4C nsv498801 12 85219825 85227198 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585662 S 9 0 1 MGAT4C esv25339 12 85219831 85227166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10267 S 451 0 5 MGAT4C NA18861,NA18909,NA19108,NA19129,NA19190 esv2421908 12 85219843 85225388 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133056,essv5091328,essv5083685,essv5062687,essv5136979,essv5074636,essv5149258,essv5061556,essv5060257,essv5133565,essv5074839,essv5088409,essv5098377,essv5121552,essv5003950,essv5008552,essv5117729,essv5028784,essv5082224,essv5076544,essv5070385,essv5123222,essv5090428,essv5068164,essv5078197,essv5050315,essv5046938,essv5140859,essv5048730,essv5092767,essv5053121,essv5142695,essv5052993,essv5082817,essv5054018,essv5120444,essv5066663,essv5064770,essv5127394,essv5146638,essv5069793,essv5152200,essv5123834,essv5153514,essv5136152,essv5025017,essv5131736,essv5053511,essv5045440,essv5102483,essv5132108,essv5087456,essv5149779,essv5047883,essv5048942,essv5134867,essv5159139,essv5094999,essv5018256,essv5129011,essv5016673,essv5058425,essv5077356,essv5077672,essv5102272,essv5057926,essv5088088,essv5035182,essv5071159,essv5132759,essv5059126,essv5003849,essv5099830,essv5008177,essv5048399,essv5106142,essv5108915,essv5015372,essv5098935,essv5118296,essv5053764,essv5131429,essv5147524,essv5096625,essv5158042,essv5119773,essv5076098,essv5086227,essv5122244,essv5003468,essv5027052,essv5133904,essv5009778,essv5095075,essv5092932,essv5082706,essv5094086,essv5098621,essv5027895,essv5032174,essv5030256,essv5045817,essv5149796,essv5144228,essv5081489,essv5151877,essv5060646,essv5073459,essv5085914,essv5137164,essv5118422,essv5024190,essv5141617,essv5082291,essv5123252,essv5148872,essv5025038,essv5030983,essv5046280 M 1184 0 119 MGAT4C NA17967,NA17979,NA17980,NA18143,NA18147,NA18155,NA18484,NA18485,NA18487,NA18488,NA18503,NA18504,NA18506,NA18507,NA18515,NA18516,NA18518,NA18520,NA18599,NA18630,NA18635,NA18640,NA18855,NA18857,NA18859,NA18861,NA18863,NA18909,NA18911,NA18924,NA18925,NA18933,NA18934,NA18935,NA18946,NA18972,NA18980,NA19046,NA19062,NA19072,NA19096,NA19097,NA19098,NA19108,NA19127,NA19129,NA19138,NA19140,NA19141,NA19142,NA19143,NA19161,NA19178,NA19180,NA19189,NA19190,NA19191,NA19197,NA19201,NA19202,NA19203,NA19208,NA19210,NA19211,NA19221,NA19223,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19314,NA19318,NA19346,NA19375,NA19376,NA19377,NA19381,NA19382,NA19390,NA19391,NA19404,NA19431,NA19437,NA19445,NA19448,NA19468,NA19625,NA19795,NA19796,NA19818,NA19835,NA19900,NA19902,NA19919,NA19985,NA20277,NA20284,NA20302,NA20322,NA20341,NA20345,NA20347,NA20356,NA20363,NA20364,NA20539,NA20852,NA20888,NA21363,NA21415,NA21424,NA21448,NA21493,NA21494,NA21596,NA21685,NA21776 nsv442652 12 85225213 85236932 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MGAT4C dgv1473n71 12 85337498 85801088 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899396,nsv899395,nsv899399 M 6533 0 3 MGAT4C IS38463,IS41948,MS15199 esv997184 12 85362379 85362948 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564889 S 3 1 0 MGAT4C HuRef nsv803 12 85372669 85405911 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9054 S 9 1 0 MGAT4C NA12156 nsv899397 12 85387172 86160962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546206 S 6533 0 1 MGAT4C MS17114 esv988216 12 85398444 85398444 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577718 S 3 1 0 MGAT4C HuRef esv1653091 12 85398482 85398482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743329 S 2 1 0 MGAT4C HuRef nsv899398 12 85404573 85575441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531898 S 6533 0 1 MGAT4C MS10695 esv275003 12 85404909 85414134 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585840,essv2585499 M 1250 1 1 MGAT4C nsv520577 12 85544508 85575441 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672729,nssv683140 M 2026 2 0 MGAT4C nsv899400 12 85580114 85718574 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517416 S 6533 0 1 MGAT4C SP57270 nsv455681 12 85588719 85656971 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533189 S 1557 0 1 MGAT4C 1780862404_A nsv804 12 85684900 85687417 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2889 S 9 1 0 MGAT4C NA18555 esv269823 12 85701326 85701411 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517522 S 157 1 0 Samples from several populations that are part of the HapMap project. MGAT4C NA11918 nsv455682 12 85718641 85799002 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533190 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MGAT4C HGDP01285 nsv7233 12 85727621 85813711 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9843,nssv9286,nssv10876,nssv6523 M 9 0 0 MGAT4C NA12156,NA18507,NA18517,NA18956 esv7837 12 85728882 85729775 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30278 S 1 0 1 MGAT4C SJK esv1048546 12 85728936 85728936 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650165 S 2 1 0 MGAT4C HuRef esv1455826 12 85732209 85732321 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721339 S 2 0 1 MGAT4C HuRef dgv1474n71 12 85749181 85811740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899402,nsv899401 M 6533 0 2 MGAT4C IS37065,SP57367 dgv1475n71 12 85749181 86052151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899406,nsv899407,nsv899403 M 6533 0 7 MGAT4C IS31067,IS31758,IS33839,IS35100,IS35229,IS35742,IS35771 nsv899404 12 85758126 85801088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513747 S 6533 0 1 "" SP55842 nsv899405 12 85758126 85954340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575626 S 6533 0 1 "" IS33786 nsv805 12 85758901 85788964 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10908 S 9 1 0 "" NA15510 nsv511022 12 85759976 85783766 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624339,nssv621619 M 4 0 0 "" NA15510,NA18994 esv987561 12 85762937 85778139 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565546 S 3 0 0 "" HuRef nsv436662 12 85763408 85775570 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466719 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv510307 12 85763446 85769446 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618371,nssv622217 M 4 0 2 "" CHM,NA10860 nsv499823 12 85764350 85777905 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585503 S 9 0 0 "" esv1620210 12 85764376 85777047 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892538 S 2 0 0 "" HuRef nsv513700 12 85765556 85778236 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626952 S 1 0 0 "" 1 nsv507663 12 85772055 85778055 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617839,nssv619085 M 4 2 0 "" CHM,NA10860 nsv470312 12 85772935 85844039 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546977 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00451 nsv519543 12 85831460 86052151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696912 S 2026 0 1 "" nsv517718 12 85844039 85954340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666337,nssv651665,nssv688151,nssv692371,nssv681500,nssv679317,nssv670231,nssv666149,nssv682874 M 2026 0 9 "" dgv1476n71 12 85844039 86052151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899410,nsv899408,nsv899409,nsv899412 M 6533 0 6 "" IS30597,IS31563,IS33566,IS38065,IS39784,IS40067 nsv899411 12 85863326 85984043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544166 S 6533 0 1 "" MS16286 dgv1477n71 12 85903111 86031041 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899414,nsv899413 M 6533 0 2 "" IS30522,IS31729 nsv806 12 85906441 85951637 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9055 S 9 0 1 "" NA12156 nsv442281 12 85937514 85950402 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv899415 12 85966611 86052151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550845,nssv1554638,nssv1534580 M 6533 0 3 "" MS11669,MS18620,MS20872 dgv1478n71 12 85966611 86112664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899416,nsv899417 M 6533 0 2 "" MS14326,MS17375 nsv826469 12 86054712 86057644 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438388,nssv1437706,nssv1439219,nssv1426984 M 31 0 4 "" AK6,NA18949,NA18951,NA18973 esv28355 12 86054725 86057601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18712 S 451 0 5 "" NA18505,NA18508,NA18511,NA19114,NA19225 nsv514679 12 86054912 86056904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628156 S 1414 0 1 "" nsv442653 12 86055044 86057392 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv826470 12 86234574 86239800 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423701 S 31 1 0 "" NA18999 nsv519837 12 86286495 86289970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697078 S 2026 0 1 "" nsv438224 12 86286495 86297162 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470499,nssv470502,nssv470501,nssv470500 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10838,NA10861,NA11995,NA12003 nsv510308 12 86384187 86390187 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624124 S 4 0 1 "" NA18994 esv2541470 12 86394371 86395478 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358966 S 1 1 0 "" NA18507 esv271466 12 86394923 86395008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514516,essv2516758,essv2519265,essv2517424,essv2514206,essv2518786,essv2514822,essv2515154,essv2516433,essv2517927,essv2516023,essv2517874,essv2516192,essv2516859,essv2517284,essv2519036,essv2515208,essv2518879,essv2518349 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11918,NA12043,NA12045,NA12234,NA12812,NA12814,NA12872,NA12873,NA12878,NA12891,NA12892,NA18970,NA19141,NA19238,NA19239,NA19240 esv274618 12 86394929 86395258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581872,essv2582284,essv2583253,essv2584020,essv2584598,essv2583342 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1002821 12 86394944 86394944 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568150 S 3 1 0 "" HuRef esv1307000 12 86394954 86394954 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589784 S 2 1 0 "" HuRef esv1417250 12 86403721 86403803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745868 S 2 0 1 "" HuRef esv1676885 12 86404452 86404452 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020373 S 2 1 0 "" HuRef nsv832477 12 86591806 86754944 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449951 S 95 0 1 MKRN9P esv1649664 12 86635486 86635486 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076059 S 2 1 0 "" HuRef nsv52586 12 86664589 86668050 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71164 M 24 "" esv270671 12 86801548 86801690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557778,essv2525979,essv2547824 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10851,NA11918 esv271305 12 86862265 86862601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558192,essv2565636,essv2575890,essv2540809,essv2571565,essv2546307,essv2521096,essv2526169,essv2542519,essv2536743,essv2522899,essv2543928,essv2571072,essv2556628,essv2568264,essv2545558,essv2523328,essv2531949,essv2577508,essv2548209,essv2521507,essv2576845,essv2550543,essv2525384,essv2535433,essv2544408,essv2520429,essv2547615,essv2529160,essv2558462,essv2564538,essv2577795,essv2553674,essv2559515,essv2576263,essv2520091,essv2564267,essv2554852,essv2530727,essv2561888,essv2537485,essv2528415,essv2546872,essv2520769,essv2556988,essv2532229,essv2578601,essv2536893,essv2569642,essv2527081,essv2561670,essv2544923,essv2562873,essv2523656,essv2553079,essv2541377,essv2538195,essv2543017,essv2540633,essv2564923,essv2534587,essv2561143,essv2539886,essv2549298,essv2519786,essv2559917,essv2532579,essv2567790,essv2528752,essv2567553,essv2541645,essv2570101,essv2553325,essv2535648,essv2572318,essv2559007,essv2551022,essv2573168,essv2533769,essv2555623,essv2567048,essv2566480,essv2529985,essv2527520,essv2531613,essv2573542,essv2543225,essv2576945,essv2571906,essv2526745,essv2575400,essv2560434,essv2571411,essv2535976,essv2548929,essv2533162,essv2554715,essv2547895,essv2525133,essv2563297 M 157 100 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18501,NA18505,NA18510,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18858,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19099,NA19190,NA19238 esv274372 12 86862267 86862601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581747,essv2582424,essv2583227,essv2584249 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv1553744 12 86862301 86862301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208545 S 2 1 0 "" HuRef nsv53100 12 86862302 86862302 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71678 M 24 "" nsv899418 12 87031863 87221564 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594869 S 6533 1 0 CEP290,TMTC3 IS40047 esv2157492 12 87036782 87037218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000850 S 1 0 1 CEP290 NA18507 esv1473323 12 87045007 87045007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746571 S 2 1 0 CEP290 HuRef nsv807 12 87051739 87096624 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9056 S 9 0 1 CEP290,TMTC3 NA12156 esv272210 12 87103597 87103675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581698,essv2582445 M 7 2 0 Samples from several populations that are part of the HapMap project. TMTC3 NA12878,NA12891 nsv826471 12 87106834 87107327 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436959 S 31 0 1 TMTC3 NA18542 nsv826472 12 87114513 87115046 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427771 S 31 1 0 TMTC3 AK8 nsv832478 12 87176900 87332034 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449952 S 95 0 1 "" esv989516 12 87206137 87215518 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565694 S 3 0 1 "" HuRef nsv8997 12 87280041 87369363 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20516,nssv20660,nssv24126,nssv24448,nssv21479 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA18860,NA19007,NA19173 nsv470313 12 87510147 87779854 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546978 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00615 nsv8998 12 87535989 87541070 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23974 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv507664 12 87536640 87542640 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623121 S 4 1 0 "" NA18994 esv2631762 12 87616886 87621979 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336707 S 1 0 1 "" NA18507 nsv523977 12 87986306 87994085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699832 S 2026 0 1 "" nsv808 12 88097689 88142377 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9057 S 9 0 1 "" NA12156 nsv525392 12 88171534 88172600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701515 S 2026 0 1 "" esv2576321 12 88372350 88373468 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376939 S 1 1 0 POC1B NA18507 nsv832479 12 88385221 88590900 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449953 S 95 1 0 ATP2B1,GALNT4,POC1B,POC1B-GALNT4 nsv899419 12 88614012 88718143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570552 S 6533 0 1 LOC338758 IS32166 nsv899420 12 88614012 88771682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567980 S 6533 0 1 LOC338758 IS31179 esv28180 12 88626071 88627536 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19924 S 451 0 1 LOC338758 NA07045 nsv832480 12 88743340 88926278 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449954 S 95 1 0 "" nsv527605 12 88798058 88798115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704067 S 2026 0 1 "" nsv809 12 88805599 88833817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9951 S 9 1 0 "" NA18507 nsv899421 12 88837477 88952578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582993 S 6533 0 1 "" IS36219 nsv507665 12 88960537 88966537 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620514,nssv617840,nssv623122 M 4 3 0 "" CHM,NA15510,NA18994 nsv811 12 89005781 89020906 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2005 S 9 0 1 "" NA18555 nsv437766 12 89006767 89018636 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467647 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv899422 12 89006767 89370411 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522350 S 6533 1 0 "" SP52913 dgv302n67 12 89009749 89016261 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826473,nsv826474 M 31 0 2 "" AK18,NA18570 esv2581987 12 89009945 89016004 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325125 S 1 0 1 "" NA18507 nsv512287 12 89010575 89015827 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624864 S 1 0 1 "" 1 nsv820129 12 89011002 89015921 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419672 S 2 0 1 "" AK1 esv1616596 12 89011121 89011121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906310 S 2 1 0 "" HuRef nsv498802 12 89011231 89015827 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585663 S 9 0 1 "" esv29474 12 89011704 89016192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17325 S 451 0 17 "" NA06985,NA07037,NA07045,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18523,NA18858,NA19099 esv1390795 12 89011924 89011924 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873625 S 2 1 0 "" HuRef dgv303n67 12 89011981 89014596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826477,nsv826478 M 31 0 5 "" AK16,AK2,AK8,NA18526,NA18942 dgv304n67 12 89011981 89015874 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826480,nsv826479,nsv826482,nsv826481 M 31 0 23 "" AK10,AK12,AK14,AK20,AK4,AK6,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv2442094 12 89011988 89016106 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301200 S 1 0 1 "" NA18507 nsv514680 12 89012176 89015944 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628157 S 1414 0 1 "" nsv438225 12 89014390 89015075 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470504,nssv470505,nssv470510,nssv470511,nssv470508,nssv470506,nssv470509,nssv470503 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA06994,NA07029,NA07345,NA07348,NA10839,NA12006,NA18858,NA18860 dgv305n67 12 89014560 89015841 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826483,nsv826484 M 31 0 5 "" AK16,AK2,AK8,NA18526,NA18942 nsv832482 12 89078096 89228538 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449955 S 95 1 0 "" nsv826485 12 89096445 89097844 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436961 S 31 0 1 "" NA18542 esv1453372 12 89141485 89141485 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943439 S 2 1 0 "" HuRef esv1668922 12 89141622 89141697 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272107 S 2 0 1 "" HuRef esv2375372 12 89156214 89156639 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960981 S 1 0 1 "" NA18507 nsv525698 12 89162770 89178981 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701858 S 2026 1 0 "" esv32647 12 89210336 89211478 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100949 S 51 0 1 "" 21693 esv998916 12 89267333 89267333 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578627 S 3 1 0 "" HuRef nsv53274 12 89267335 89267335 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71852 M 24 "" nsv899423 12 89317020 89501262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579322 S 6533 0 1 "" IS35083 esv2482521 12 89370249 89371918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325504 S 1 0 1 "" NA18507 esv1975086 12 89370298 89370905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525195 S 1 0 1 "" NA18507 esv3912 12 89370442 89370762 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26353 S 1 0 1 Single Asian sample YH "" YH esv1006660 12 89370503 89370706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575206 S 3 0 1 "" HuRef dgv30n6 12 89370504 89370724 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv52977,nsv52629 M 24 "" esv1704757 12 89370520 89370724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690403 S 2 0 1 "" HuRef nsv812 12 89403155 89443925 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1102 S 9 0 1 "" NA19240 nsv498803 12 89414467 89423321 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585664 S 9 0 1 "" esv27373 12 89414598 89423293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13762 S 451 0 6 "" NA18907,NA19099,NA19108,NA19190,NA19225,NA19240 nsv514681 12 89415888 89423000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628159 S 1414 0 1 "" esv2421753 12 89416448 89422039 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024398,essv5112097,essv5122104,essv5148452,essv5102006,essv5071774,essv5089958,essv5030364,essv5075986,essv5137438,essv5103884,essv5004155,essv5109223,essv5067846,essv5016389,essv5098079,essv5042229,essv5058768,essv5053663,essv5131409,essv5102053,essv5016073,essv5127673,essv5100735,essv5070545,essv5061999,essv5050504,essv5080847,essv5022815,essv5084200,essv5143229,essv5075131,essv5033956,essv5047344,essv5011654,essv5033533,essv5022492,essv5088308,essv5129954,essv5012542,essv5070896,essv5086685,essv5022699,essv5109629,essv5071882,essv5129496,essv5127017,essv5052394,essv5101505 M 1184 0 49 "" NA18509,NA18518,NA18519,NA18520,NA18859,NA18860,NA18862,NA18873,NA18874,NA18875,NA18933,NA18934,NA19095,NA19097,NA19099,NA19108,NA19113,NA19138,NA19140,NA19141,NA19142,NA19172,NA19175,NA19185,NA19186,NA19190,NA19191,NA19194,NA19214,NA19215,NA19224,NA19225,NA19238,NA19240,NA19332,NA19377,NA19397,NA19403,NA19438,NA19456,NA19468,NA19471,NA19625,NA19818,NA19828,NA19914,NA19915,NA20288,NA20345 nsv442654 12 89416448 89422039 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv899424 12 89453783 89492669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513200 S 6533 0 1 "" SP55694 nsv899425 12 89465847 90266743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522351 S 6533 1 0 C12orf12,C12orf37,DCN,EPYC,KERA,LUM SP52913 esv26158 12 89496185 89498734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16978 S 451 0 1 "" NA18502 dgv306n67 12 89497407 89498510 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826488,nsv826486 M 31 0 2 "" AK10,NA18526 nsv826489 12 89497407 89498907 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432351 S 31 0 1 "" AK20 nsv527968 12 89600629 89614699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704480 S 2026 0 1 "" nsv455683 12 89601639 89678338 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533191 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00926 nsv813 12 89608067 89641935 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5444 S 9 1 0 "" NA19129 dgv1479n71 12 89645298 89713289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899427,nsv899426 M 6533 0 4 "" SP50027,SP51056,SP56976,SP57905 nsv455684 12 89648686 89711462 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533192 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01191 esv1160716 12 89694457 89694583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3919619 S 2 0 1 "" HuRef dgv209n27 12 89716266 89771333 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455685,nsv455687 M 1557 0 2 "" 1780862459_A,HGDP01030 nsv521037 12 89725625 89729173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697748 S 2026 0 1 "" nsv437767 12 89753867 89766379 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467648 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 nsv832483 12 89758705 89965559 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449956 S 95 1 0 C12orf12,C12orf37,EPYC esv26136 12 89765846 89768909 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14872 S 451 0 1 "" NA19114 nsv520079 12 89767018 89771333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697213 S 2026 0 1 "" nsv814 12 89791269 89824563 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1103 S 9 1 0 "" NA19240 esv7297 12 89877370 89878145 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29738 S 1 0 1 "" SJK nsv899428 12 89983352 90049785 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596686 S 6533 1 0 LUM IS40612 nsv899429 12 90000699 90177427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580134 S 6533 0 1 DCN,LUM IS35229 dgv210n27 12 90027392 90176836 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455690,nsv455689,nsv455688 M 1557 0 3 DCN,LUM HGDP00145,HGDP00154,HGDP00155 nsv832484 12 90057414 90201485 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449966,nssv1449967,nssv1449965,nssv1449957,nssv1449964,nssv1449959,nssv1449963,nssv1449958,nssv1449960 M 95 1 8 DCN nsv899430 12 90071161 90096535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503569 S 6533 1 0 DCN SP52077 nsv815 12 90123173 90168835 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6524 S 9 0 1 "" NA12156 esv28991 12 90182512 90184001 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15475 S 451 0 3 "" NA18511,NA18858,NA19114 nsv510607 12 90184546 90243907 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622664 S 4 0 1 "" NA18994 nsv899431 12 90225433 90277126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556052 S 6533 0 1 "" MS21771 esv27280 12 90246220 90248009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10844 S 451 0 1 "" NA11931 esv273615 12 90265365 90265698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583924,essv2584443,essv2583454 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv816 12 90282223 90315432 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9058 S 9 1 0 "" NA12156 nsv832485 12 90300672 90475026 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449968 S 95 1 0 "" esv271872 12 90366312 90366624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519310,essv2517454,essv2514806,essv2516588,essv2513854,essv2518322 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12234,NA12814,NA19143,NA19240 esv274680 12 90366312 90366624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581120 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv832486 12 90421920 90631030 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449969 S 95 1 0 "" esv1626765 12 90515427 90515487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691767 S 2 0 1 "" HuRef nsv52613 12 90525809 90525809 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71191 M 24 "" nsv7234 12 90618610 97557352 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10909 S 9 0 0 AMDHD1,BTG1,C12orf74,CCDC38,CCDC41,CDK17,CLLU1,CLLU1OS,CRADD,EEA1,ELK3,FGD6,HAL,IKBIP,KRT19P2,LOC100128191,LOC144481,LOC144486,LOC643339,LOC643770,LTA4H,METAP2,MIR1251,MIR135A2,MIR331,MIR3685,MIR4303,MIR492,MRPL42,NDUFA12,NEDD1,NR2C1,NTN4,NUDT4,NUDT4P1,PLEKHG7,PLXNC1,RMST,SLC25A3,SLC9A7P1,SNORA53,SNRPF,SOCS2,TMCC3,TMPO,UBE2N,USP44,VEZT NA15510 nsv521970 12 90634109 90636549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694739 S 2026 0 1 "" nsv832487 12 90638178 90841223 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449970 S 95 1 0 "" dgv524e1 12 90671045 90834807 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24278,esv275 M 271 0 0 "" NA10856 nsv524267 12 90677731 90688206 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700165 S 2026 1 0 "" nsv817 12 90687000 90721016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9059 S 9 1 0 "" NA12156 nsv899432 12 90732850 90767743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516062 S 6533 1 0 "" SP56385 esv268516 12 90766630 90766977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494284,essv2504264,essv2493649,essv2501052,essv2498575,essv2494109,essv2509140,essv2509617,essv2498823,essv2497455 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18517,NA18856,NA18858,NA18871,NA18909,NA19129,NA19138,NA19147 nsv819241 12 90791979 90792332 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418837 S 2 1 0 "" AK1 nsv8999 12 90805278 90810151 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26089 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv525958 12 90832358 90836558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702168 S 2026 0 1 "" nsv832488 12 90848666 91014012 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449971 S 95 1 0 "" esv273810 12 91007557 91007884 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580803,essv2579725 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv1480n71 12 91057520 91068637 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899433,nsv899435 M 6533 0 3 BTG1 SP54725,SP54937,SP54988 nsv899434 12 91058501 91063591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506033,nssv1510051 M 6533 0 2 BTG1 SP54043,SP54956 nsv899436 12 91061070 91068637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511474 S 6533 0 1 BTG1 SP55021 esv269892 12 91069853 91069938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514097 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv1091223 12 91113552 91113608 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725466 S 2 0 1 "" HuRef nsv442283 12 91161059 91171445 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv271915 12 91203598 91203815 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496588,essv2511614,essv2497028 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18940,NA19190 nsv52617 12 91209944 91211383 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71195 M 24 "" nsv53835 12 91211393 91211695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72413 M 24 "" nsv525093 12 91296438 91301148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701152 S 2026 0 1 "" esv269354 12 91320824 91321118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506305,essv2498605,essv2506580,essv2499160,essv2497456 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18858,NA19108,NA19114,NA19147 nsv818 12 91367440 91412939 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6525 S 9 0 1 "" NA12156 esv1141298 12 91391049 91391049 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314599 S 2 1 0 "" HuRef esv274685 12 91413969 91414054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581234 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv996381 12 91454990 91455055 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571876 S 3 0 1 "" HuRef esv1216097 12 91454991 91455057 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933913 S 2 0 1 "" HuRef nsv510309 12 91486349 91492349 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618372 S 4 0 1 "" CHM nsv899437 12 91515558 91636555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537873 S 6533 0 1 C12orf74 MS13400 esv1324661 12 91595897 91596281 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233241 S 2 0 1 "" HuRef esv5531 12 91645927 91646290 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27972 S 1 0 1 "" SJK nsv455691 12 91655334 91815733 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533199 S 1557 1 0 EEA1,PLEKHG7 1780854090_A nsv899438 12 91675068 91775639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591755 S 6533 0 1 EEA1,PLEKHG7 IS39011 nsv520865 12 91725146 91749146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694542,nssv685792,nssv676578,nssv695366 M 2026 0 4 EEA1 esv21874 12 91734590 91735192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20573 S 451 0 1 EEA1 NA19225 nsv826490 12 91867489 91873520 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435507,nssv1430859 M 31 2 0 "" AK16,NA18592 nsv819 12 91882117 91914788 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2006 S 9 1 0 "" NA18555 esv1788123 12 91887630 91888354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819233 S 2 0 1 "" HuRef nsv826491 12 91908001 91908732 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432353 S 31 0 1 "" AK20 esv2171843 12 91991194 91991610 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930195 S 1 0 1 LOC643339 NA18507 esv3617 12 91991299 91991552 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26058 S 1 0 1 Single Asian sample YH LOC643339 YH esv2535738 12 92027578 92029978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317942 S 1 0 1 LOC643339 NA18507 esv1949045 12 92028252 92029692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569700 S 1 0 1 LOC643339 NA18507 esv3552 12 92028386 92029671 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25993 S 1 0 1 Single Asian sample YH LOC643339 YH esv6136 12 92028415 92029509 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28577 S 1 0 1 LOC643339 SJK esv27963 12 92028441 92029515 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9810 S 451 0 5 LOC643339 NA06985,NA11993,NA12239,NA18523,NA18916 nsv899439 12 92059960 92193970 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538489 S 6533 1 0 LOC643339 MS13744 nsv820 12 92142183 92174714 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6526 S 9 1 0 LOC643339 NA12156 esv2382854 12 92143694 92144128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615778 S 1 0 1 LOC643339 NA18507 nsv53478 12 92143821 92143901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72056 M 24 LOC643339 dgv525e1 12 92197630 92210326 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25171,esv1037 M 271 0 0 LOC643339 NA11840 nsv516635 12 92200005 92217592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669770,nssv681574,nssv683917 M 2026 0 3 LOC643339 nsv822 12 92268217 92312959 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9061 S 9 0 1 LOC643339,NUDT4,NUDT4P1 NA12156 esv23701 12 92308303 92311819 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16301 S 451 0 1 NUDT4,NUDT4P1 NA18508 nsv518120 12 92309651 92311715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694203 S 2026 0 1 NUDT4,NUDT4P1 esv272008 12 92336409 92336494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519084 S 157 1 0 Samples from several populations that are part of the HapMap project. UBE2N NA19141 nsv823 12 92339814 92384509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9062 S 9 0 1 UBE2N NA12156 nsv528151 12 92348528 92351375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704698 S 2026 0 1 UBE2N esv23160 12 92368981 92370438 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16889 S 451 1 0 "" NA11931 nsv438227 12 92385303 92387120 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470512,nssv470513 M 269 0 2 Samples from several populations that are part of the HapMap project. MRPL42 NA18563,NA18572 esv275262 12 92388519 92388726 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585691,essv2585476 M 1250 1 1 MRPL42 esv9445 12 92418932 92419808 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31886 S 1 0 1 MRPL42 SJK nsv824 12 92451177 92483376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1104 S 9 1 0 "" NA19240 esv2155685 12 92472238 92472690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591429 S 1 0 1 "" NA18507 esv25615 12 92488513 92490064 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19760 S 451 0 1 LOC144481,SOCS2 NA07045 nsv53050 12 92505607 92508690 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71628 M 24 "" nsv825 12 92568460 92600487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5445 S 9 1 0 CRADD NA19129 nsv899440 12 92583262 92682618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545035 S 6533 1 0 CRADD MS16643 nsv510310 12 92606121 92612121 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618373 S 4 0 1 CRADD CHM nsv826 12 92647011 92692442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6527 S 9 0 1 CRADD NA12156 nsv442284 12 92721811 92725697 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CRADD nsv826492 12 92721840 92726929 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422105 S 31 0 1 CRADD NA18997 nsv523282 12 92723908 92726653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699021 S 2026 0 1 CRADD nsv9000 12 92743824 93177288 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23125 S 31 1 0 Samples from several populations that are part of the HapMap project. CRADD,PLXNC1 NA18504 nsv529049 12 92759608 92760016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705769 S 2026 0 1 CRADD nsv524248 12 92764542 92770487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700140 S 2026 0 1 CRADD nsv525412 12 92766931 92767049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701536 S 2026 0 1 CRADD dgv1481n71 12 92834257 92885658 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899441,nsv899442,nsv899443 M 6533 4 0 "" IS31564,IS35505,IS37498,IS38525 esv2404954 12 92882283 92882961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915683 S 1 0 1 "" NA18507 esv3870 12 92882435 92882909 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26311 S 1 0 1 Single Asian sample YH "" YH nsv53078 12 92882460 92882771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71656 M 24 "" esv998577 12 92882467 92882778 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578917 S 3 0 1 "" HuRef esv6411 12 92882477 92882772 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28852 S 1 0 1 "" SJK nsv510311 12 92902414 92908414 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618374 S 4 0 1 "" CHM esv26075 12 92967569 92971489 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13504 S 451 0 1 "" NA19114 nsv827 12 92977923 93011508 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4039 S 9 1 0 "" NA12878 nsv519828 12 93064806 93067637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658968,nssv682698 M 2026 0 2 PLXNC1 esv29104 12 93065984 93068278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14195 S 451 0 2 PLXNC1 NA07045,NA18907 nsv437769 12 93085678 93093491 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467650 S 60 0 1 Samples from several populations that are part of the HapMap project. PLXNC1 NA19142 nsv53225 12 93094983 93095142 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71803 M 24 PLXNC1 nsv832489 12 93104392 93270889 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449972 S 95 0 1 CCDC41,PLXNC1 nsv828 12 93124370 93150536 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2007 S 9 1 0 PLXNC1 NA18555 nsv520739 12 93189313 93194335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674871,nssv692988,nssv676415 M 2026 0 3 PLXNC1 esv4528 12 93193404 93193900 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26969 S 1 0 1 Single Asian sample YH PLXNC1 YH nsv832490 12 93248628 93414419 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449974 S 95 1 0 CCDC41,LOC144486 nsv516550 12 93256725 93414179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658145,nssv669091 M 2026 0 2 CCDC41,LOC144486 nsv52506 12 93471783 93473148 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71084 M 24 "" nsv507666 12 93491192 93497192 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620515,nssv619086 M 4 2 0 TMCC3 NA10860,NA15510 nsv899444 12 93495052 93525817 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545036 S 6533 1 0 TMCC3 MS16643 nsv829 12 93580551 93614878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1105 S 9 1 0 "" NA19240 nsv899445 12 93662201 93727293 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566792 S 6533 1 0 "" IS30923 nsv899446 12 93671857 93861862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538490 S 6533 1 0 KRT19P2,MIR492 MS13744 nsv53265 12 93743891 93753661 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71843 M 24 KRT19P2,MIR492 esv2446231 12 93767401 93768795 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351196 S 1 0 1 "" NA18507 nsv512288 12 93767472 93768640 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624865 S 1 0 1 "" 1 esv2018260 12 93767973 93768774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811480 S 1 0 1 "" NA18507 esv4099 12 93768126 93768670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26540 S 1 0 1 Single Asian sample YH "" YH esv5741 12 93768147 93768595 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28182 S 1 0 1 "" SJK esv1364450 12 93768157 93768580 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626663 S 2 0 1 "" HuRef nsv899447 12 93784834 93873180 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525081 S 6533 1 0 "" SP55494 esv2532190 12 93794713 93794938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273830 S 1 0 1 "" NA18507 esv27806 12 93809752 93811112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18262 S 451 0 1 "" NA12749 esv2617019 12 93867630 93869278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201758 S 1 0 1 "" NA18507 esv1921551 12 93867998 93868699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563490 S 1 0 1 "" NA18507 esv5363 12 93868107 93868549 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27804 S 1 0 1 Single Asian sample YH "" YH esv5579 12 93868203 93868474 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28020 S 1 0 1 "" SJK esv1218332 12 93911165 93911301 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169325 S 2 0 1 NDUFA12 HuRef nsv53404 12 93911178 93911313 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71982 M 24 NDUFA12 nsv899448 12 93928789 93995461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589907,nssv1575965 M 6533 0 2 FGD6,NR2C1 IS33846,IS38430 nsv518889 12 93953510 93980147 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696347 S 2026 1 0 NR2C1 nsv519584 12 93955226 93958583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658762,nssv676105,nssv656966,nssv660326 M 2026 0 4 NR2C1 nsv52790 12 93955815 93961596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71368 M 24 NR2C1 nsv899449 12 94055573 94138360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594389 S 6533 0 1 FGD6,VEZT IS39832 nsv899450 12 94065562 94184313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504538 S 6533 1 0 FGD6,VEZT SP52582 nsv526515 12 94082273 94086016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702825 S 2026 0 1 FGD6 nsv899451 12 94096158 94174977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553835 S 6533 0 1 FGD6,VEZT MS20346 nsv53566 12 94112431 94113596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72144 M 24 FGD6 esv269352 12 94113585 94113670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516757,essv2515518,essv2517354,essv2519393 M 157 4 0 Samples from several populations that are part of the HapMap project. FGD6 NA07346,NA11881,NA12249,NA18970 nsv899452 12 94241396 94282757 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535406,nssv1533489 M 6533 0 2 "" MS11204,MS12202 esv2635935 12 94272751 94273692 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261929 S 1 1 0 "" NA18507 esv1098771 12 94273411 94273411 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048338 S 2 1 0 "" HuRef nsv528802 12 94303536 94313976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705476 S 2026 0 1 "" nsv899453 12 94309170 94368573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545037 S 6533 1 0 "" MS16643 nsv507667 12 94309195 94315195 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620516,nssv617841,nssv619087 M 4 3 0 "" CHM,NA10860,NA15510 nsv438228 12 94323489 94333257 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470515,nssv470514 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19209,NA19211 esv25935 12 94327199 94329185 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16555 S 451 0 1 "" NA18907 dgv1482n71 12 94442741 94469612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899455,nsv899454 M 6533 0 3 USP44 SP50915,SP52409,SP56922 nsv528896 12 94454399 94510333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705580 S 2026 1 0 USP44 esv273263 12 94477557 94477917 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579256 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv528916 12 94489821 94500284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705603 S 2026 0 1 "" nsv830 12 94493514 94538649 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2008 S 9 0 1 "" NA18555 nsv831 12 94495982 94529444 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1106 S 9 1 0 "" NA19240 nsv499175 12 94504414 94504577 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586222 S 9 1 0 "" esv1004336 12 94526631 94537265 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563605 S 3 0 1 "" HuRef esv2501467 12 94533919 94537027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186075 S 1 0 1 "" NA18507 dgv307n67 12 94534159 94536658 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826493,nsv826494 M 31 0 14 "" AK16,AK4,NA18526,NA18537,NA18552,NA18564,NA18570,NA18582,NA18942,NA18947,NA18951,NA18972,NA18997,NA18999 esv25865 12 94534159 94536658 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14352 S 451 4 5 "" NA07045,NA11931,NA11995,NA12156,NA12239,NA12489,NA19129,NA19147,NA19225 nsv821182 12 94534159 94536658 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421018 S 1 0 1 "" NA10851 esv2163945 12 94534387 94536722 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840688 S 1 0 1 "" NA18507 esv6470 12 94534580 94536596 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28911 S 1 0 1 "" SJK nsv819769 12 94534625 94536464 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419338 S 2 1 0 "" AK1 nsv455692 12 94545164 94598454 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533200 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NTN4 HGDP00952 nsv521234 12 94547494 94550110 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694425 S 2026 1 0 "" esv2557827 12 94560365 94563631 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331373 S 1 0 1 "" NA18507 esv29241 12 94561061 94562351 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21362,esv14332 M 451 0 6 "" NA18508,NA18511,NA18861,NA19099,NA19129,NA19225 nsv526022 12 94576014 94583259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702252 S 2026 0 1 NTN4 nsv833 12 94583164 94614661 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6528 S 9 1 0 NTN4 NA12156 nsv436154 12 94756435 94762350 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466720 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv994478 12 94756557 94762129 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564084 S 3 0 1 "" HuRef esv2498157 12 94756971 94760940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247272 S 1 0 1 "" NA18507 nsv512289 12 94757189 94760568 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624867 S 1 0 1 "" 1 esv4692 12 94757664 94760498 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27133 S 1 0 1 Single Asian sample YH "" YH esv8898 12 94757712 94760443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31339 S 1 0 1 "" SJK nsv455693 12 94772622 94798821 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533201 S 1557 0 1 CCDC38,SNRPF NINDS_33 nsv455694 12 94812991 94834770 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533202 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC38 HGDP00148 nsv834 12 94832746 94867504 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2009 S 9 0 1 AMDHD1,CCDC38 NA18555 esv2572405 12 94862648 94867529 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297279 S 1 0 1 AMDHD1 NA18507 esv2519868 12 94863701 94867698 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322581 S 1 0 1 AMDHD1 NA18507 dgv34e180 12 94864091 94867090 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006312,esv992407 M 3 0 1 AMDHD1 HuRef esv1946077 12 94864295 94867293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001613 S 1 0 1 AMDHD1 NA18507 esv4012 12 94864424 94867215 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26453 S 1 0 1 Single Asian sample YH AMDHD1 YH nsv512290 12 94864428 94867083 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624868 S 1 0 1 AMDHD1 1 esv8973 12 94864485 94867056 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31414 S 1 0 1 AMDHD1 SJK esv1136533 12 94864486 94867095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330532 S 2 0 1 AMDHD1 HuRef nsv523292 12 94910269 94933332 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699032 S 2026 1 0 HAL,LTA4H nsv899456 12 94981496 95068600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545038 S 6533 1 0 "" MS16643 nsv832491 12 95008668 95102291 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449975 S 95 0 1 "" nsv835 12 95051886 95060005 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9063 S 9 0 1 "" NA12156 esv2082153 12 95082152 95082630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538906 S 1 0 1 "" NA18507 nsv53408 12 95089270 95094211 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71986 M 24 "" esv26105 12 95111912 95113003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15694 S 451 0 1 ELK3 NA07045 nsv836 12 95177141 95211848 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4040 S 9 1 0 CDK17,ELK3 NA12878 esv269643 12 95229471 95229826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517474,essv2514826,essv2515153,essv2515728,essv2518109,essv2514391,essv2516281,essv2513865,essv2515184,essv2518218,essv2519367 M 157 11 0 Samples from several populations that are part of the HapMap project. CDK17 NA07346,NA11918,NA12234,NA12812,NA12815,NA12872,NA12874,NA12891,NA19143,NA19238,NA19240 esv272651 12 95229476 95229821 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582277,essv2584389,essv2583788 M 7 3 0 Samples from several populations that are part of the HapMap project. CDK17 NA12891,NA19238,NA19240 nsv53730 12 95229494 95229494 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72308 M 24 CDK17 nsv899457 12 95229639 95326295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545039 S 6533 1 0 CDK17 MS16643 nsv899458 12 95354409 95467199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545040 S 6533 1 0 "" MS16643 nsv519948 12 95403948 95404373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697141 S 2026 0 1 "" nsv818929 12 95403948 95404684 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417528 S 112 1 0 "" NA18968 nsv526288 12 95403948 95423948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702568 S 2026 0 1 "" esv267892 12 95436663 95436748 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517508,essv2515128 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12812 esv2289960 12 95582450 95582857 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716476 S 1 0 1 "" NA18507 nsv522649 12 95606570 95622680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706049 S 2026 0 1 "" nsv826495 12 95638507 95639087 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427775 S 31 1 0 "" AK8 nsv826496 12 95657128 95657903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436964 S 31 0 1 "" NA18542 nsv525218 12 95668077 95669765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701304 S 2026 0 1 "" esv29777 12 95745006 95745540 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10680 S 451 0 3 "" NA12156,NA12287,NA15510 esv1456496 12 95745090 95745333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334722 S 2 0 1 "" HuRef esv2136665 12 95847070 95847485 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891833 S 1 0 1 NEDD1 NA18507 esv7477 12 95852000 95852062 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29918 S 1 1 0 NEDD1 SJK esv2507346 12 95871152 95872015 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226542 S 1 1 0 NEDD1 NA18507 nsv510312 12 95873994 95879994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624125 S 4 0 1 "" NA18994 nsv899459 12 95889463 95963336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545041 S 6533 1 0 "" MS16643 esv271665 12 95889642 95895722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2531776,essv2548323,essv2547422,essv2558320,essv2561786,essv2537850 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA12006,NA12045,NA12717,NA12750,NA12874 nsv521154 12 95902258 95918063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697817 S 2026 0 1 "" nsv832493 12 95902696 96099974 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449976 S 95 1 0 "" nsv837 12 95906093 95935723 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9064 S 9 0 1 "" NA12156 esv269594 12 95944181 95944471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523625,essv2531130,essv2541639,essv2578294,essv2577082 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18573,NA18592,NA18940,NA18970 esv2652257 12 95957194 95958580 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195442 S 1 0 1 "" NA18507 esv270906 12 96019458 96019793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558223,essv2565615,essv2571827,essv2521357,essv2542309,essv2536542,essv2522767,essv2544027,essv2571066,essv2556529,essv2568337,essv2521732,essv2525313,essv2535212,essv2554189,essv2547248,essv2529403,essv2558260,essv2577952,essv2559524,essv2576171,essv2564103,essv2555066,essv2530889,essv2537248,essv2546944,essv2520999,essv2557339,essv2557096,essv2552583,essv2532408,essv2562700,essv2538888,essv2527049,essv2544902,essv2523560,essv2541359,essv2538196,essv2540591,essv2524595,essv2564807,essv2534802,essv2561218,essv2539748,essv2549539,essv2519635,essv2522119,essv2531219,essv2532549,essv2568056,essv2528737,essv2542187,essv2550944,essv2568977,essv2543777,essv2527739,essv2533948,essv2578486,essv2529992,essv2573323,essv2577074,essv2572126,essv2526994,essv2529480,essv2575527,essv2538680,essv2560544,essv2574950,essv2572926,essv2568523,essv2560509,essv2549949,essv2571357,essv2574484,essv2548781,essv2533391,essv2554512,essv2547654,essv2563415 M 157 79 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11840,NA11894,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12144,NA12156,NA12249,NA12287,NA12717,NA12749,NA12750,NA12761,NA12776,NA12814,NA12828,NA12872,NA12873,NA12878,NA12892,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18519,NA18522,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18856,NA18858,NA18861,NA18870,NA18907,NA18916,NA18940,NA18949,NA18969,NA18970,NA18973,NA19005,NA19093,NA19099,NA19108,NA19116,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19240 esv273683 12 96019459 96019794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581686,essv2582946,essv2584359,essv2583727 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv1192463 12 96019489 96019489 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818979 S 2 1 0 "" HuRef esv271619 12 96050495 96050836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506778,essv2495303,essv2503390,essv2502517,essv2493406,essv2505028,essv2499214,essv2507525,essv2511112,essv2512817,essv2503575,essv2511585 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA11918,NA11992,NA12716,NA12750,NA12763,NA12828,NA18605,NA18638,NA18944,NA18980 nsv832494 12 96070428 96244325 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449977 S 95 1 0 "" esv273029 12 96074867 96075213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581175 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv270182 12 96074876 96075210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558202,essv2541062,essv2542448,essv2571014,essv2577605,essv2550799,essv2520718,essv2539010,essv2561570,essv2542142,essv2568954,essv2574325,essv2536277,essv2547919 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10851,NA11831,NA11919,NA11993,NA12043,NA12155,NA12716,NA18519,NA18523,NA18856,NA18861,NA19240 esv2609807 12 96078232 96079714 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221601 S 1 0 1 "" NA18507 esv2297842 12 96078697 96079391 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964918 S 1 0 1 "" NA18507 esv3246 12 96078814 96079238 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25687 S 1 0 1 Single Asian sample YH "" YH esv2510599 12 96078864 96079191 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233720 S 1 0 1 "" NA18507 esv6122 12 96078870 96079190 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28563 S 1 0 1 "" SJK esv1539657 12 96078872 96079200 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144394 S 2 0 1 "" HuRef nsv838 12 96092317 96124564 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1107 S 9 1 0 "" NA19240 esv1010039 12 96152014 96160513 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563885 S 3 0 1 "" HuRef nsv899460 12 96200366 96286201 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526466 S 6533 1 0 "" SP57585 nsv839 12 96210021 96241306 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10877 S 9 1 0 "" NA18956 esv2405319 12 96225752 96226182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615369 S 1 0 1 "" NA18507 esv3393 12 96225863 96226083 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25834 S 1 0 1 Single Asian sample YH "" YH esv992644 12 96225930 96225997 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585174 S 3 0 1 "" HuRef nsv52640 12 96225931 96225998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71218 M 24 "" nsv455695 12 96279252 96288375 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533203 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00001 nsv832495 12 96285734 96449812 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449978 S 95 1 0 MIR1251,RMST nsv507668 12 96313383 96319383 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617842 S 4 1 0 "" CHM nsv840 12 96375399 96409361 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4041 S 9 1 0 RMST NA12878 nsv438229 12 96401144 96412948 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470516,nssv470517 M 269 0 2 Samples from several populations that are part of the HapMap project. MIR1251,RMST NA19138,NA19139 nsv9001 12 96455089 96532086 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20965 S 31 0 1 Samples from several populations that are part of the HapMap project. MIR135A2 NA18980 esv2608563 12 96494609 96496040 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262522 S 1 0 1 "" NA18507 esv2534831 12 96515917 96518446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382549 S 1 0 1 "" NA18507 esv21918 12 96516188 96517708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16999 S 451 0 3 "" NA19147,NA19190,NA19225 esv2114020 12 96516199 96517875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697255 S 1 0 1 "" NA18507 esv995865 12 96532553 96532553 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568992 S 3 1 0 "" HuRef esv1277814 12 96532554 96532554 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059222 S 2 1 0 "" HuRef nsv438230 12 96538876 96555110 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470523,nssv470520,nssv470521,nssv470522 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10839,NA10855,NA11831,NA12005 esv2135932 12 96539566 96539974 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673245 S 1 0 1 "" NA18507 esv992506 12 96539712 96539771 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566752 S 3 0 1 "" HuRef esv1763361 12 96539775 96539835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160765 S 2 0 1 "" HuRef nsv53546 12 96539776 96539835 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72124 M 24 "" nsv521692 12 96562994 96584327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698312 S 2026 0 1 "" nsv510313 12 96599053 96605053 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622218 S 4 0 1 "" NA10860 nsv525617 12 96631589 96633325 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701762 S 2026 1 0 "" esv3303 12 96635791 96636961 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25744 S 1 0 1 Single Asian sample YH "" YH esv270760 12 96687494 96687579 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514271,essv2517672,essv2519032 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12874,NA12878,NA19141 esv273487 12 96687494 96687579 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581338 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1268198 12 96687533 96687533 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138249 S 2 1 0 "" HuRef dgv526e1 12 96694617 96869757 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv202,essv16290 M 271 0 0 "" NA19161 nsv428284 12 96694617 96869757 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452311 S 62 1 0 "" NA18498 nsv841 12 96795562 96829608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4042 S 9 1 0 "" NA12878 nsv9002 12 96856388 96863426 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26108 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv270999 12 96865039 96865208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512210,essv2512545,essv2500459,essv2497250,essv2497789,essv2499983,essv2508304,essv2504535,essv2511351,essv2494494,essv2507675,essv2508661,essv2510019,essv2496078,essv2499325,essv2501570,essv2505201,essv2509296,essv2507354,essv2504907,essv2502413,essv2512366,essv2500561,essv2503683,essv2495978,essv2495207,essv2501292,essv2504666,essv2498654,essv2497054 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18489,NA18537,NA18552,NA18555,NA18558,NA18561,NA18563,NA18570,NA18572,NA18576,NA18592,NA18593,NA18603,NA18605,NA18608,NA18853,NA18909,NA18912,NA18942,NA18948,NA18949,NA18956,NA18960,NA18961,NA18964,NA19093,NA19099,NA19138,NA19190 nsv53281 12 97061721 97061872 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71859 M 24 "" esv23354 12 97194051 97197110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21187 S 451 0 10 "" NA11931,NA12006,NA12156,NA12878,NA18517,NA18523,NA19114,NA19129,NA19225,NA19240 nsv514683 12 97194968 97196104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628160 S 1414 0 1 "" nsv438231 12 97194992 97195652 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470526,nssv470528,nssv470529,nssv470525,nssv470524,nssv470527 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA12752,NA12753,NA12760,NA12761,NA12763,NA12864 nsv520270 12 97228326 97240512 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697317 S 2026 0 1 "" nsv842 12 97289030 97334361 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6529 S 9 0 1 "" NA12156 nsv899461 12 97294794 97323586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545042 S 6533 1 0 "" MS16643 esv1007151 12 97360769 97361284 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563753 S 3 1 0 "" HuRef esv2478699 12 97410018 97411001 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299370 S 1 1 0 LOC643770 NA18507 esv2601754 12 97454227 97455691 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262085 S 1 0 1 TMPO NA18507 esv21946 12 97477836 97483764 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18004,esv13054 M 451 33 0 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820671 12 97477836 97483764 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421019 S 1 0 1 "" NA10851 nsv436151 12 97480519 97487678 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466721 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv520714 12 97501327 97507345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682378,nssv678490,nssv674657 M 2026 0 3 "" nsv819940 12 97544425 97551961 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419829 S 2 0 1 IKBIP AK1 nsv832496 12 97565976 97723530 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449979 S 95 1 0 ANKS1B,APAF1 nsv455696 12 97596023 97632419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533204 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APAF1 HGDP00568 nsv844 12 97626451 97640342 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1108 S 9 1 0 APAF1 NA19240 nsv826497 12 97661858 97662626 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432354 S 31 1 0 ANKS1B AK20 nsv899462 12 97672798 97693821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501950 S 6533 0 1 ANKS1B SP50725 nsv845 12 97743690 97755121 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9066 S 9 0 1 ANKS1B NA12156 nsv526324 12 97751285 97754816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702613 S 2026 0 1 ANKS1B esv29542 12 97812475 97813446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12904 S 451 0 1 ANKS1B NA07045 nsv846 12 97890132 97930968 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9067 S 9 0 1 ANKS1B NA12156 esv267572 12 97892466 97892742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548838,essv2554588,essv2524910 M 157 3 0 Samples from several populations that are part of the HapMap project. ANKS1B NA07037,NA07346,NA07357 nsv826499 12 97934134 97934644 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435519,nssv1429447 M 31 2 0 ANKS1B NA18592,NA18947 esv9366 12 97970356 97970665 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31807 S 1 0 1 ANKS1B SJK nsv847 12 97983506 98018117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1109 S 9 1 0 ANKS1B NA19240 esv2651616 12 98056798 98057919 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284859 S 1 1 0 ANKS1B NA18507 esv3652 12 98083375 98084093 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26093 S 1 0 1 Single Asian sample YH ANKS1B YH nsv510314 12 98153428 98159428 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618375,nssv624126,nssv622219,nssv621388 M 4 0 4 ANKS1B CHM,NA10860,NA15510,NA18994 nsv848 12 98215462 98260440 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9068 S 9 0 1 ANKS1B NA12156 esv268775 12 98254673 98254758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519291 S 157 1 0 Samples from several populations that are part of the HapMap project. ANKS1B NA11894 nsv849 12 98289213 98334844 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4044 S 9 0 1 ANKS1B NA12878 esv267418 12 98305747 98305832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517024,essv2518151,essv2517642 M 157 3 0 Samples from several populations that are part of the HapMap project. ANKS1B NA11931,NA12872,NA12878 esv273817 12 98305747 98305832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581604 S 7 1 0 Samples from several populations that are part of the HapMap project. ANKS1B NA12878 nsv437154 12 98312051 98328667 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467035 S 60 0 1 Samples from several populations that are part of the HapMap project. ANKS1B NA10838 nsv9004 12 98317548 98327610 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23932,nssv18791,nssv24474,nssv26127,nssv24031 M 31 0 5 Samples from several populations that are part of the HapMap project. ANKS1B NA12872,NA18502,NA18860,NA19132,NA19221 esv23428 12 98318101 98326919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21039 S 451 0 11 ANKS1B NA11931,NA12004,NA12414,NA12749,NA12776,NA12878,NA18502,NA18858,NA18861,NA19108,NA19190 nsv514684 12 98318224 98320192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628161 S 1414 0 1 ANKS1B nsv442655 12 98319424 98322865 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ANKS1B nsv438232 12 98319623 98326639 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470531 S 269 0 1 Samples from several populations that are part of the HapMap project. ANKS1B NA12144 nsv515574 12 98319623 98326639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669171,nssv680318,nssv692594,nssv681188,nssv654205,nssv686258,nssv674406,nssv690979,nssv690643,nssv677892,nssv674527,nssv675791,nssv657547,nssv676579,nssv654991,nssv654440,nssv657157,nssv666315,nssv674603,nssv663183,nssv678710,nssv651864,nssv672842,nssv671685,nssv693401 M 2026 0 25 ANKS1B esv33474 12 98372917 98373069 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96035 S 51 1 0 ANKS1B 22127 nsv899463 12 98495763 98537299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535900 S 6533 0 1 ANKS1B MS12542 esv2421630 12 98500945 98547465 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109604,essv5035436,essv5011309,essv5046853,essv5129061,essv5004763,essv5160007,essv5080040,essv5110999,essv5086333,essv5029301,essv5103577,essv5073007,essv5008880,essv5093804,essv5111000,essv5082542,essv5059959,essv5068353 M 1184 0 19 ANKS1B NA18546,NA19315,NA21311,NA21352,NA21353,NA21359,NA21360,NA21361,NA21362,NA21371,NA21390,NA21421,NA21526,NA21527,NA21616,NA21631,NA21683,NA21686,NA21738 esv32717 12 98501000 98606438 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100261 S 51 1 0 ANKS1B,FAM71C 22286 nsv514685 12 98501608 98547304 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628162 S 1414 0 1 ANKS1B nsv519031 12 98505657 98507003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696500 S 2026 0 1 ANKS1B nsv470314 12 98505657 98546503 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546979 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKS1B HGDP00992 nsv517202 12 98519837 98532904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684668,nssv660779,nssv684823,nssv684743,nssv684194,nssv657235,nssv653998,nssv654070,nssv675255,nssv651979,nssv686290,nssv652974,nssv689234,nssv673528,nssv688393,nssv660666,nssv662121,nssv696413,nssv693347,nssv652526,nssv653112,nssv653448,nssv673371,nssv681641,nssv688278,nssv679374 M 2026 0 26 ANKS1B esv999514 12 98568194 98568194 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573453 S 3 1 0 ANKS1B HuRef esv1457090 12 98568266 98568266 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722457 S 2 1 0 ANKS1B HuRef dgv1483n71 12 98583956 98676267 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899464,nsv899465 M 6533 0 2 ANKS1B IS34518,MS11298 nsv455699 12 98604119 98606581 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533206 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKS1B HGDP01328 nsv525970 12 98604119 98628907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702185 S 2026 0 1 ANKS1B nsv850 12 98772338 98780935 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9844 S 9 1 0 ANKS1B NA18507 esv22330 12 98812528 98816065 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13097 S 451 0 5 ANKS1B NA06985,NA07037,NA11894,NA12776,NA12878 nsv514686 12 98814592 98815616 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628163 S 1414 0 1 ANKS1B nsv523049 12 98935206 98956924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698732 S 2026 0 1 UHRF1BP1L nsv899466 12 98935297 99013115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594995 S 6533 0 1 UHRF1BP1L IS40067 nsv518866 12 98956924 98967253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694282 S 2026 0 1 UHRF1BP1L esv3021 12 98998843 99000108 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25462 S 1 0 1 Single Asian sample YH UHRF1BP1L YH nsv899467 12 99005151 99084547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540408 S 6533 0 1 GOLGA2P5,UHRF1BP1L MS14835 nsv826500 12 99158187 99160848 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439926 S 31 0 1 "" NA18537 esv2518688 12 99199885 99201422 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389754 S 1 0 1 SCYL2 NA18507 esv2364259 12 99199950 99200594 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887798 S 1 0 1 SCYL2 NA18507 nsv819410 12 99258467 99259054 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419013 S 2 0 1 "" AK1 nsv851 12 99294231 99339062 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9069 S 9 0 1 SLC17A8 NA12156 esv988196 12 99313971 99316413 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563563 S 3 0 1 SLC17A8 HuRef nsv852 12 99341484 99376661 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4045 S 9 1 0 "" NA12878 nsv455700 12 99405139 99460458 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533207 S 1557 0 1 NR1H4 NINDS_36 dgv1484n71 12 99422778 99516233 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899469,nsv899468 M 6533 2 0 GAS2L3,NR1H4 IS30311,IS35242 nsv899470 12 99460458 99516233 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594291 S 6533 1 0 GAS2L3,NR1H4 IS39759 nsv442285 12 99460967 99468082 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NR1H4 esv28430 12 99496724 99500111 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17015 S 451 1 0 GAS2L3 NA12489 nsv52731 12 99641579 99642815 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71309 M 24 "" nsv826501 12 99658693 99669642 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426987 S 31 0 1 "" AK6 nsv853 12 99702341 99746983 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5446 S 9 0 1 ANO4 NA19129 nsv518877 12 99733444 99735897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694283 S 2026 0 1 ANO4 esv27167 12 99759594 99760290 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10900 S 451 0 1 ANO4 NA18511 esv2586099 12 99832985 99834440 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277318 S 1 0 1 ANO4 NA18507 nsv856 12 99880403 99913446 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9070 S 9 1 0 ANO4 NA12156 nsv899471 12 100045651 100074307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550580 S 6533 0 1 ANO4,SLC5A8 MS18466 nsv857 12 100047878 100083006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6530,nssv4046 M 9 2 0 SLC5A8 NA12156,NA12878 nsv438233 12 100048107 100056215 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470532,nssv470535,nssv470534,nssv470533,nssv470537,nssv470536 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA06994,NA07019,NA07029,NA07056,NA10835,NA12249 nsv470315 12 100217097 100281661 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546980 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UTP20 HGDP00942 nsv527122 12 100267701 100274798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703505 S 2026 0 1 UTP20 nsv510315 12 100277745 100283745 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624127 S 4 0 1 UTP20 NA18994 esv2497077 12 100279842 100281520 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310319 S 1 0 1 UTP20 NA18507 esv2152079 12 100280256 100281189 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809417 S 1 0 1 UTP20 NA18507 nsv53174 12 100280435 100281088 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71752 M 24 UTP20 nsv527505 12 100298370 100304095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703957 S 2026 0 1 UTP20 nsv507669 12 100396730 100402730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617843,nssv620517,nssv619088 M 4 3 0 SPIC CHM,NA10860,NA15510 esv26761 12 100411466 100412267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20149 S 451 0 1 "" NA18861 nsv858 12 100423044 100455817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1110 S 9 1 0 "" NA19240 nsv832497 12 100585107 100779771 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449980 S 95 1 0 CHPT1,GNPTAB,MYBPC1,SYCP3 esv2617504 12 100611966 100611983 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393089 S 1 1 0 "" NA18507 nsv859 12 100614328 100637993 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4047 S 9 0 1 CHPT1 NA12878 esv2566252 12 100622082 100624347 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197337 S 1 0 1 CHPT1 NA18507 nsv435634 12 100625744 100631604 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466722 S 2 0 1 CHPT1 NA15510 esv9053 12 100626536 100631208 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31494 S 1 0 1 CHPT1 SJK nsv498804 12 100626537 100631222 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585665 S 9 0 1 CHPT1 nsv826502 12 100626637 100630032 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439927,nssv1422107,nssv1435530,nssv1423704,nssv1432355,nssv1426062,nssv1440598,nssv1430091,nssv1422885,nssv1424504,nssv1428586 M 31 0 11 CHPT1 AK10,AK14,AK20,AK4,NA18537,NA18552,NA18564,NA18582,NA18592,NA18997,NA18999 dgv308n67 12 100626637 100631711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826503,nsv826504 M 31 0 2 CHPT1 NA18526,NA18969 esv21962 12 100626865 100631254 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17755 S 451 0 6 CHPT1 NA11931,NA11993,NA12489,NA12878,NA15510,NA18517 nsv514642 12 100627400 100629888 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628164 S 1414 0 1 CHPT1 nsv860 12 100644001 100655741 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10878 S 9 0 1 CHPT1,SYCP3 NA18956 esv2615882 12 100665254 100665925 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162114 S 1 1 0 GNPTAB NA18507 nsv861 12 100690420 100722572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5447 S 9 1 0 GNPTAB NA19129 nsv525663 12 100765631 100772696 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701819 S 2026 0 1 "" esv2499618 12 100837583 100838987 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290205 S 1 0 1 DRAM1 NA18507 esv2318192 12 100837996 100838501 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820323 S 1 0 1 DRAM1 NA18507 esv4264 12 100838155 100838347 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26705 S 1 0 1 Single Asian sample YH DRAM1 YH nsv899472 12 100841186 101098210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528314 S 6533 1 0 C12orf48,CCDC53,DRAM1,NUP37 SP81191 esv275182 12 100864991 100867071 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585332,essv2586108 M 1250 1 1 "" nsv899473 12 100960058 101121832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581691 S 6533 0 1 C12orf48,CCDC53,NUP37,PMCH IS35691 esv273953 12 101070444 101070812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579312 S 7 1 0 Samples from several populations that are part of the HapMap project. C12orf48 NA19239 esv270934 12 101070633 101070784 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511858,essv2494959,essv2498483,essv2506638,essv2501725,essv2498049 M 157 6 0 Samples from several populations that are part of the HapMap project. C12orf48 NA18499,NA18520,NA18858,NA19108,NA19239,NA19240 nsv455702 12 101081329 101151741 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533208 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C12orf48,PMCH HGDP00966 nsv862 12 101209719 101244448 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1111 S 9 1 0 "" NA19240 nsv899474 12 101242139 101388555 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545043 S 6533 1 0 IGF1 MS16643 nsv832498 12 101252706 101437699 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449981 S 95 1 0 IGF1 nsv819617 12 101316946 101317413 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418966 S 2 1 0 IGF1 AK1 nsv832499 12 101332430 101499388 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449982 S 95 1 0 IGF1 esv271788 12 101379352 101379437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515783,essv2517698,essv2516892 M 157 3 0 Samples from several populations that are part of the HapMap project. IGF1 NA12815,NA12878,NA12892 esv273493 12 101379364 101379688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582114,essv2583119 M 7 2 0 Samples from several populations that are part of the HapMap project. IGF1 NA12878,NA12892 nsv863 12 101519880 101564372 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2010 S 9 0 1 "" NA18555 nsv509474 12 101611239 101617990 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623630 S 4 1 0 "" NA18994 nsv832500 12 101639722 101796797 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449983,nssv1449985 M 95 0 2 LINC00485,PAH nsv516328 12 101697440 101699389 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667617,nssv693397,nssv681499 M 2026 0 3 "" esv4985 12 101753495 101753761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27426 S 1 0 1 Single Asian sample YH "" YH nsv53435 12 101753576 101753725 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72013 M 24 "" esv2370143 12 101766139 101766605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908475 S 1 0 1 PAH NA18507 esv1495220 12 101766192 101766262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260063 S 2 0 1 PAH HuRef esv2285780 12 101785861 101786294 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606704 S 1 0 1 PAH NA18507 esv1533666 12 101786012 101786110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958468 S 2 0 1 PAH HuRef esv274662 12 101834775 101834985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580911,essv2579747 M 7 2 0 Samples from several populations that are part of the HapMap project. PAH NA19238,NA19240 esv21488 12 101849086 101850752 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13439 S 451 0 1 "" NA18508 nsv899475 12 101877668 101998198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579863 S 6533 0 1 ASCL1 IS35181 esv2541708 12 101880281 101880391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246283 S 1 0 1 "" NA18507 nsv832501 12 101988057 102172955 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449986 S 95 1 0 "" nsv864 12 102066715 102100564 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9071 S 9 1 0 "" NA12156 nsv899476 12 102092446 102143215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545044 S 6533 1 0 "" MS16643 esv268251 12 102100002 102100299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536557,essv2545670,essv2535151,essv2554174,essv2560359,essv2571462,essv2574187 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12003,NA12249,NA12287,NA19190,NA19238,NA19240 esv272845 12 102100013 102100240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584102,essv2583690 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv826505 12 102102846 102107251 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430861 S 31 0 1 "" AK16 nsv826506 12 102219899 102220505 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432356 S 31 0 1 C12orf42 AK20 dgv1485n71 12 102271645 102358405 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899478,nsv899477 M 6533 2 0 C12orf42 IS34484,MS15365 esv269933 12 102278528 102278613 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519292,essv2514331,essv2513598 M 157 3 0 Samples from several populations that are part of the HapMap project. C12orf42 NA07347,NA11894,NA12874 esv22217 12 102363204 102371092 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14469 S 451 0 3 C12orf42 NA18502,NA18505,NA19114 nsv521147 12 102380958 102381038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697814 S 2026 0 1 C12orf42 nsv528405 12 102420725 102425632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704997 S 2026 0 1 "" esv1458646 12 102424836 102424836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748807 S 2 1 0 "" HuRef esv991328 12 102478269 102478269 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584316 S 3 1 0 "" HuRef nsv52539 12 102478276 102478276 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71117 M 24 "" nsv52733 12 102478300 102478300 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71311 M 24 "" esv271377 12 102539191 102539276 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514764,essv2514954 M 157 2 0 Samples from several populations that are part of the HapMap project. STAB2 NA12234,NA12812 nsv527362 12 102553592 102563104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703793 S 2026 0 1 STAB2 nsv865 12 102554232 102598994 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9072 S 9 0 1 STAB2 NA12156 nsv518252 12 102583920 102585961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695683 S 2026 0 1 STAB2 nsv525838 12 102583920 102587220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702030 S 2026 0 1 STAB2 nsv524064 12 102585727 102589976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699932 S 2026 0 1 STAB2 nsv867 12 102595826 102630898 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1112 S 9 1 0 STAB2 NA19240 nsv899479 12 102617126 102663048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559750 S 6533 1 0 STAB2 MS24108 dgv1486n71 12 102617126 102743086 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899480,nsv899483,nsv899481,nsv899487,nsv899482 M 6533 5 0 NT5DC3,STAB2 MS14353,MS17788,MS19756,MS24139,MS25669 esv34031 12 102638407 102822676 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GNN,NT5DC3,STAB2 dgv1487n71 12 102642717 102667212 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899485,nsv899484 M 6533 2 0 STAB2 MS12986,MS24919 nsv899486 12 102642717 102694604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541475 S 6533 1 0 NT5DC3,STAB2 MS15317 nsv899488 12 102647673 102664647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554865 S 6533 1 0 STAB2 MS21038 esv997744 12 102666188 102670639 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563855 S 3 0 1 STAB2 HuRef dgv1488n71 12 102668965 102743086 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899490,nsv899489 M 6533 2 0 NT5DC3,STAB2 MS24108,MS24919 dgv1489n71 12 102675690 102707788 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899491,nsv899492 M 6533 2 0 NT5DC3,STAB2 MS12986,MS21038 esv2532898 12 102685680 102686674 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269392 S 1 1 0 "" NA18507 nsv52873 12 102715396 102717712 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71451 M 24 NT5DC3 nsv826507 12 102767939 102768572 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427776 S 31 0 1 GNN AK8 esv259446 12 102802759 102803107 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394088,essv2393886,essv2393864,essv2393670,essv2394015,essv2394328 M 6 0 0 Samples from several populations that are part of the HapMap project. GNN NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv29872 12 102803696 102811875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18895,esv15591,esv18491 M 451 0 6 GNN NA07045,NA12004,NA12749,NA18511,NA18916,NA19225 esv2616568 12 102817005 102818683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310206 S 1 0 1 GNN NA18507 esv5095 12 102817470 102817929 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27536 S 1 0 1 Single Asian sample YH GNN YH esv1010300 12 102817525 102817852 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573014 S 3 0 1 GNN HuRef esv2633887 12 102817531 102817858 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171794 S 1 0 1 GNN NA18507 esv9479 12 102817543 102817867 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31920 S 1 0 1 GNN SJK esv260052 12 102830636 102830983 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398464,essv2398875,essv2400553,essv2400775,essv2395385,essv2395604,essv2400646,essv2396145,essv2399670,essv2395987,essv2400489 M 144 0 0 Samples from several populations that are part of the HapMap project. GNN NA11894,NA11995,NA12043,NA12717,NA12749,NA18501,NA18510,NA18523,NA19210,NA19238,NA19240 esv259652 12 102830641 102830967 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393639,essv2394280 M 6 0 0 Samples from several populations that are part of the HapMap project. GNN NA19238,NA19240 esv2137081 12 102901056 102902810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4898013 S 1 0 1 TDG NA18507 nsv53249 12 102901127 102901202 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71827 M 24 TDG esv2039358 12 102902659 102903635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789426 S 1 0 1 TDG NA18507 esv6803 12 102902810 102903531 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29244 S 1 0 1 TDG SJK esv2341266 12 102903529 102905034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515622 S 1 0 1 TDG NA18507 nsv52595 12 102903637 102904855 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71173 M 24 TDG esv9163 12 102903643 102904856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31604 S 1 0 1 TDG SJK nsv819113 12 103053378 103053760 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418929 S 2 1 0 NFYB AK1 esv23395 12 103055349 103056324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17346 S 451 0 1 NFYB NA07045 nsv899493 12 103072743 103227358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545045 S 6533 1 0 EID3,TXNRD1 MS16643 nsv899494 12 103085651 103330362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528760 S 6533 1 0 EID3,TXNRD1 SP81355 esv1648435 12 103179804 103180003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821855 S 2 0 1 TXNRD1 HuRef nsv819204 12 103204935 103206408 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419272 S 2 1 0 TXNRD1 AK1 nsv52994 12 103220416 103225907 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71572 M 24 EID3,TXNRD1 esv23043 12 103254768 103256295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17536,esv16416 M 451 0 2 TXNRD1 NA12414,NA12776 nsv832502 12 103357859 103432418 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449990,nssv1449987,nssv1449988,nssv1449989 M 95 0 4 CHST11 nsv518733 12 103366426 103368315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696182 S 2026 0 1 "" esv1008856 12 103370778 103372036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569849 S 3 0 1 "" HuRef esv24853 12 103371251 103371970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15652 S 451 0 1 "" NA15510 nsv832504 12 103377461 103552375 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449991,nssv1449992 M 95 1 1 CHST11,MIR3922 nsv868 12 103383094 103419702 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9074 S 9 0 1 CHST11 NA12156 esv26567 12 103430708 103431439 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11507 S 451 0 2 CHST11 NA18517,NA18858 nsv899495 12 103514599 104051141 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585064 S 6533 1 0 ALDH1L2,C12orf45,CHST11,KIAA1033,SLC41A2 IS37238 nsv515742 12 103587384 103588012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692483,nssv664646 M 2026 0 2 CHST11 esv25429 12 103592751 103593414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20343 S 451 0 1 CHST11 NA18907 nsv899496 12 103676521 103723168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545046 S 6533 1 0 CHST11,SLC41A2 MS16643 nsv899497 12 103679421 103771140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563379 S 6533 0 1 CHST11,SLC41A2 MS25976 nsv899498 12 103697728 103985750 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588569 S 6533 1 0 ALDH1L2,C12orf45,SLC41A2 IS38217 nsv832505 12 103839482 104021895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449993 S 95 1 0 ALDH1L2,C12orf45,SLC41A2 esv269511 12 103840807 103840892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518160 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC41A2 NA12872 nsv869 12 103887555 103919034 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10879,nssv2011 M 9 0 2 C12orf45 NA18555,NA18956 dgv14n50 12 103892824 103899474 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512291,nsv511501 M 1 0 1 "" 1 nsv498805 12 103893182 103897680 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585666 S 9 0 1 "" esv8886 12 103893189 103897681 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31327 S 1 0 1 "" SJK esv21500 12 103893572 103897528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13533 S 451 0 2 "" NA18505,NA18523 nsv514643 12 103893688 103894448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628165 S 1414 0 1 "" nsv514644 12 103896360 103897416 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628166 S 1414 0 1 "" esv270837 12 103962471 103962808 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519309,essv2514024,essv2515392,essv2518515,essv2517681,essv2516250,essv2516852,essv2517240,essv2513977,essv2515279,essv2518938,essv2518422 M 157 12 0 Samples from several populations that are part of the HapMap project. ALDH1L2 NA11894,NA12043,NA12249,NA12287,NA12878,NA12891,NA12892,NA18970,NA19143,NA19238,NA19239,NA19240 esv274115 12 103962478 103962805 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582085,essv2582575,essv2582958,essv2584256,essv2584679,essv2583800 M 7 6 0 Samples from several populations that are part of the HapMap project. ALDH1L2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1002429 12 103966009 103966862 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564149 S 3 1 0 ALDH1L2 HuRef esv1010041 12 103983907 103991733 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563538 S 3 0 1 ALDH1L2 HuRef nsv832506 12 103985404 104161691 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449994 S 95 1 0 ALDH1L2,APPL2,KIAA1033 nsv899499 12 104140427 104246659 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597705 S 6533 0 1 APPL2 IS40890 nsv510589 12 104194201 104267885 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620051 S 4 0 1 C12orf75 NA15510 esv3656 12 104205039 104205878 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26097 S 1 0 1 Single Asian sample YH "" YH nsv826508 12 104205082 104205860 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431574,nssv1427777,nssv1438391,nssv1425265,nssv1439221,nssv1422887,nssv1430092,nssv1430864 M 31 0 8 "" AK14,AK16,AK18,AK2,AK8,NA18552,NA18951,NA18973 esv26269 12 104205120 104205729 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16955 S 451 0 2 "" NA18858,NA19240 nsv516472 12 104236733 104241728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668580,nssv660556 M 2026 0 2 "" esv1514742 12 104242081 104242131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058811 S 2 0 1 "" HuRef nsv899500 12 104266804 104327158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519299 S 6533 1 0 C12orf75 SP81005 nsv510316 12 104281497 104287497 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624128,nssv618376 M 4 0 2 C12orf75 CHM,NA18994 esv2598737 12 104297140 104298575 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368096 S 1 0 1 "" NA18507 esv2266227 12 104297443 104298167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619424 S 1 0 1 "" NA18507 esv3487 12 104297612 104298096 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25928 S 1 0 1 Single Asian sample YH "" YH esv6615 12 104297648 104297983 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29056 S 1 0 1 "" SJK esv1136555 12 104297655 104297979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842847 S 2 0 1 "" HuRef esv259631 12 104298718 104299003 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394126,essv2393877,essv2394332 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19240 nsv870 12 104330627 104366013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1113 S 9 1 0 "" NA19240 nsv899501 12 104343176 104474931 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519300 S 6533 1 0 "" SP81005 nsv832507 12 104345815 104529316 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449996 S 95 1 0 "" esv272747 12 104354996 104355310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579025,essv2579589 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269083 12 104355002 104355297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565662,essv2575969,essv2541048,essv2521162,essv2542302,essv2571002,essv2577562,essv2570690,essv2550681,essv2535436,essv2520409,essv2558597,essv2564759,essv2553805,essv2520169,essv2530787,essv2561850,essv2528317,essv2540078,essv2532171,essv2569598,essv2578663,essv2536905,essv2527271,essv2561509,essv2544711,essv2563060,essv2523757,essv2541207,essv2542714,essv2565001,essv2534755,essv2539663,essv2549518,essv2566100,essv2531056,essv2532664,essv2568043,essv2528861,essv2541725,essv2569945,essv2535755,essv2551109,essv2568973,essv2556317,essv2527777,essv2562241,essv2533923,essv2555327,essv2566517,essv2534271,essv2531378,essv2573457,essv2543304,essv2573312,essv2525559,essv2529473,essv2575568,essv2575253,essv2560882,essv2574570,essv2568714,essv2551582,essv2536125,essv2548896,essv2533100,essv2557910 M 157 67 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA10851,NA11829,NA11830,NA11831,NA11894,NA11919,NA11993,NA12043,NA12044,NA12155,NA12249,NA12716,NA12750,NA12751,NA12763,NA12815,NA12873,NA12874,NA12891,NA18489,NA18505,NA18508,NA18510,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18550,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18858,NA18861,NA18871,NA18907,NA18909,NA18916,NA18943,NA18948,NA18959,NA18961,NA18964,NA18965,NA18969,NA18980,NA19093,NA19099,NA19102,NA19137,NA19138,NA19147,NA19257 nsv899502 12 104387094 104428655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545047 S 6533 1 0 "" MS16643 nsv826510 12 104465320 104468771 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429007 S 31 0 1 "" NA18968 esv27428 12 104473987 104475906 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18514,esv20554 M 451 3 0 "" NA11931,NA12749,NA19190 nsv510317 12 104476034 104482034 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621389 S 4 0 1 "" NA15510 esv271411 12 104542913 104543242 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495621,essv2498793 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18916,NA19138 nsv899503 12 104545607 104700033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503962 S 6533 0 1 "" SP52139 esv1536262 12 104597066 104597066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940387 S 2 1 0 "" HuRef esv1255266 12 104597074 104597074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166537 S 2 1 0 "" HuRef esv1552596 12 104597094 104597094 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182429 S 2 1 0 "" HuRef nsv899504 12 104620036 104660072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545048 S 6533 1 0 "" MS16643 esv24914 12 104686231 104706346 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15321 S 451 1 0 "" NA18907 nsv832508 12 104722927 104933242 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449997,nssv1449998 M 95 2 0 "" nsv519500 12 104874586 104880300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656430,nssv693326 M 2026 0 2 "" nsv832509 12 104888018 105040351 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1449999 S 95 1 0 NUAK1 esv22045 12 104905128 104905698 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9934 S 451 0 1 "" NA12749 nsv871 12 104931646 104953936 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9075 S 9 0 1 "" NA12156 esv25105 12 105056598 105057928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14431 S 451 0 1 NUAK1 NA18907 esv267805 12 105076090 105076430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504058,essv2506173,essv2513409,essv2501441,essv2510915,essv2509442 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18523,NA18907,NA19093,NA19116,NA19129 esv2418594 12 105142645 105143074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755864 S 1 0 1 "" NA18507 esv25104 12 105164966 105166406 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19887 S 451 0 2 CKAP4 NA07045,NA18907 esv6114 12 105170621 105173577 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28555 S 1 0 1 "" SJK esv2609227 12 105189961 105191041 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187745 S 1 1 0 "" NA18507 esv1246128 12 105190339 105190339 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818836 S 2 1 0 "" HuRef esv2544167 12 105199737 105200084 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241453 S 1 0 1 "" NA18507 nsv832510 12 105311860 105475270 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450000 S 95 0 1 LOC100287944,POLR3B nsv507670 12 105326382 105332382 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619089 S 4 1 0 POLR3B NA10860 esv270867 12 105415054 105415139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515655,essv2514369,essv2515841,essv2517244,essv2519378 M 157 5 0 Samples from several populations that are part of the HapMap project. LOC100287944,POLR3B NA07346,NA12815,NA12874,NA18969,NA18970 nsv832511 12 105469784 105631958 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450001 S 95 1 0 LOC100287944,LOC100505978,RFX4 nsv507671 12 105471114 105477114 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620518,nssv619090,nssv617844 M 4 3 0 LOC100287944 CHM,NA10860,NA15510 nsv522964 12 105513755 105514971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698633 S 2026 0 1 LOC100287944,RFX4 nsv9005 12 105543363 105891260 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20776 S 31 1 0 Samples from several populations that are part of the HapMap project. C12orf23,LOC100287944,LOC100505978,RFX4,RIC8B NA18552 nsv899505 12 105567021 105764562 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545049 S 6533 1 0 LOC100287944,LOC100505978,RFX4,RIC8B MS16643 esv990753 12 105596200 105597724 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565488 S 3 1 0 LOC100287944,RFX4 HuRef esv269609 12 105646183 105646268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515852,essv2514008,essv2519412 M 157 3 0 Samples from several populations that are part of the HapMap project. LOC100287944,RFX4 NA07346,NA12873,NA19143 esv24274 12 105813656 105816818 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11799 S 451 0 1 "" NA19108 dgv99n21 12 105877725 105892010 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524439,nsv525081 M 2026 0 2 C12orf23 esv267500 12 105878728 105878813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516413 S 157 1 0 Samples from several populations that are part of the HapMap project. C12orf23 NA12814 nsv516865 12 105889003 105892010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671806,nssv654537 M 2026 0 2 C12orf23 nsv437155 12 105889003 105902975 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467036 S 60 0 1 Samples from several populations that are part of the HapMap project. C12orf23,MTERFD3 NA10831 nsv526138 12 105892010 105894382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702393 S 2026 0 1 "" esv271678 12 105894464 105894931 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502114 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19257 esv1001965 12 105944059 105944059 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571103 S 3 1 0 CRY1 HuRef esv1520737 12 105944060 105944060 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267834 S 2 1 0 CRY1 HuRef esv2485513 12 105982065 105983472 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274652 S 1 0 1 CRY1 NA18507 esv33807 12 106037874 106038025 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98024 S 51 1 0 "" 22259 nsv872 12 106213068 106246473 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1114 S 9 1 0 BTBD11 NA19240 nsv899506 12 106282147 106341566 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545050 S 6533 1 0 BTBD11 MS16643 nsv873 12 106340806 106368120 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9076 S 9 0 1 BTBD11 NA12156 esv32768 12 106380000 106380213 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99440 S 51 1 0 BTBD11 22335 esv2025373 12 106400682 106401079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665470 S 1 0 1 BTBD11 NA18507 nsv899507 12 106418920 106503883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577806 S 6533 0 1 BTBD11 IS34572 nsv899508 12 106457315 106532902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545051 S 6533 1 0 BTBD11 MS16643 nsv874 12 106487223 106520565 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1115 S 9 1 0 BTBD11 NA19240 esv1000854 12 106526784 106526889 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579434 S 3 0 1 BTBD11 HuRef esv1332246 12 106526784 106526890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744771 S 2 0 1 BTBD11 HuRef nsv875 12 106535733 106580840 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9077 S 9 0 1 BTBD11 NA12156 nsv876 12 106544701 106579013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1116 S 9 1 0 BTBD11 NA19240 nsv524699 12 106557618 106564812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700679 S 2026 0 1 BTBD11 nsv524835 12 106557618 106569522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700836 S 2026 0 1 BTBD11 nsv455705 12 106558957 106569881 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533209 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BTBD11 HGDP00862 nsv899509 12 106562421 106664162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545052 S 6533 1 0 BTBD11,PRDM4,PWP1 MS16643 nsv528273 12 106569269 106569522 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704842 S 2026 1 0 BTBD11 nsv820093 12 106661074 106662418 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419241 S 2 0 1 PRDM4 AK1 nsv878 12 106723462 106753839 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5448 S 9 1 0 "" NA19129 nsv507672 12 106737194 106743194 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623123 S 4 1 0 "" NA18994 esv28112 12 106743963 106749202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11687 S 451 0 1 "" NA18907 nsv879 12 106804928 106841744 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2012,nssv1117,nssv4048 M 9 3 0 LOC728739 NA12878,NA18555,NA19240 nsv826511 12 106813887 106814400 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432357 S 31 1 0 "" AK20 esv2568742 12 106821251 106822762 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254728 S 1 0 1 LOC728739 NA18507 esv2357952 12 106821990 106822693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792519 S 1 0 1 "" NA18507 esv2566469 12 106822188 106822507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370881 S 1 0 1 "" NA18507 esv996212 12 106832190 106832194 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563906 S 3 1 0 "" HuRef esv1393787 12 106832197 106832197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635302 S 2 1 0 "" HuRef nsv832512 12 106899825 107062279 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450003,nssv1450002 M 95 2 0 WSCD2 nsv510318 12 106904035 106910035 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618377 S 4 0 1 "" CHM dgv211n27 12 106904132 107013065 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455709,nsv455706,nsv455710 M 1557 0 3 "" 1780862095_A,HGDP01384,NINDS_210 nsv470316 12 106929893 107000267 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546981 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01384 nsv527811 12 106929893 107000267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704305 S 2026 0 1 "" nsv899510 12 106947570 107045289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577807 S 6533 0 1 "" IS34572 nsv880 12 106978325 107001859 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2013,nssv5450 M 9 2 0 "" NA18555,NA19129 nsv507673 12 106982068 106988068 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617845,nssv619091 M 4 2 0 "" CHM,NA10860 esv24110 12 106984084 106987962 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13679,esv16982,esv14850 M 451 10 0 "" NA18502,NA18508,NA18511,NA18523,NA18909,NA19099,NA19108,NA19147,NA19225,NA19240 nsv7235 12 107001055 107037513 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9288,nssv5451 M 9 0 0 "" NA18517,NA19129 nsv881 12 107010930 107040102 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4049 S 9 1 0 "" NA12878 esv8762 12 107087685 107089286 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31203 S 1 0 1 WSCD2 SJK esv1782275 12 107265727 107265727 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084923 S 2 1 0 "" HuRef esv1177902 12 107265906 107265985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193063 S 2 0 1 "" HuRef nsv899511 12 107312861 107341366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545053 S 6533 1 0 "" MS16643 nsv438234 12 107318835 107332847 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470544,nssv470543,nssv470540,nssv470545,nssv470538,nssv470539,nssv470542,nssv470546 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA18506,NA18507,NA18521,NA18522,NA18912,NA18914,NA19099,NA19100 esv268325 12 107361943 107362028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516156 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv27968 12 107386327 107387092 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16825 S 451 0 3 "" NA12489,NA15510,NA18858 nsv821132 12 107386327 107387092 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421020 S 1 0 1 "" NA10851 esv2511671 12 107387323 107390884 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360595 S 1 0 1 "" NA18507 esv1963602 12 107387834 107390537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680566 S 1 0 1 "" NA18507 esv28420 12 107388046 107390536 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16996 S 451 0 3 "" NA18505,NA19099,NA19190 nsv509475 12 107488663 107508183 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618095,nssv623631,nssv619612,nssv620976 M 4 4 0 TMEM119 CHM,NA10860,NA15510,NA18994 nsv882 12 107491058 107505539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9078 S 9 1 0 "" NA12156 nsv524079 12 107505771 107516211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699948 S 2026 0 1 TMEM119 nsv883 12 107514233 107559955 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6531 S 9 0 1 SELPLG,TMEM119 NA12156 esv2422361 12 107710583 108040548 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161433 S 181 1 0 ALKBH2,DAO,LOC100131733,SSH1,SVOP,UNG,USP30 ND03950 esv274226 12 107745111 107745196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581370 S 7 1 0 Samples from several populations that are part of the HapMap project. SSH1 NA12878 esv24121 12 107775169 107775804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10829 S 451 0 1 SSH1 NA18907 nsv524524 12 107796180 107817449 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700473 S 2026 1 0 DAO esv2197774 12 107798327 107798738 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946322 S 1 0 1 DAO NA18507 nsv455711 12 107802876 107834983 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533214 S 1557 0 1 DAO,SVOP 1780862021_A esv6912 12 107836924 107837186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29353 S 1 0 1 SVOP SJK esv270200 12 107837402 107837487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517241 S 157 1 0 Samples from several populations that are part of the HapMap project. SVOP NA18970 esv1008019 12 107840673 107841652 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587010 S 3 0 1 SVOP HuRef nsv525664 12 107854325 107855044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701820 S 2026 0 1 SVOP esv1340901 12 107977557 107977557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310182 S 2 1 0 USP30 HuRef nsv53822 12 107977590 107977590 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72400 M 24 USP30 nsv526106 12 108020942 108026775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702354 S 2026 0 1 UNG esv1652073 12 108029104 108029104 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180017 S 2 1 0 UNG HuRef nsv455712 12 108037232 108147964 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533215 S 1557 1 0 ACACB NINDS_201 nsv528323 12 108037232 108147964 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704904 S 2026 1 0 ACACB nsv526593 12 108053451 108062335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702912 S 2026 0 1 ACACB nsv899512 12 108096103 108133395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533866 S 6533 0 1 ACACB MS11312 nsv507674 12 108115237 108121237 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617846,nssv620519,nssv619092 M 4 3 0 ACACB CHM,NA10860,NA15510 esv2158529 12 108116500 108116945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709940 S 1 0 1 ACACB NA18507 esv1456600 12 108116698 108116798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652338 S 2 0 1 ACACB HuRef nsv899513 12 108128078 108169928 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545054 S 6533 1 0 ACACB MS16643 esv2101418 12 108279695 108280132 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688765 S 1 0 1 "" NA18507 nsv515873 12 108308869 108326998 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682955,nssv656997,nssv656797,nssv693829,nssv665115,nssv656914,nssv654988 M 2026 7 0 MYO1H nsv899514 12 108448255 108512178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546815 S 6533 0 1 MMAB,MVK,UBE3B MS17208 dgv1490n71 12 108448255 108550450 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899515,nsv899516 M 6533 0 2 MMAB,MVK,UBE3B MS10311,MS16153 esv23887 12 108583621 108584686 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12809 S 451 0 1 "" NA12878 nsv526783 12 108594946 108611797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703135 S 2026 0 1 "" nsv518032 12 108600893 108611797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695441 S 2026 0 1 "" esv28773 12 108621884 108624829 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10950 S 451 0 1 "" NA12749 dgv1491n71 12 108623112 108675595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899518,nsv899517 M 6533 0 3 C12orf34,MGC14436 MS10311,MS16153,MS17208 esv22410 12 108635839 108637184 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10198 S 451 0 2 C12orf34 NA07045,NA18907 esv2588131 12 108789838 108790848 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333843 S 1 1 0 GLTP NA18507 esv259728 12 108790161 108790532 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395267,essv2396025,essv2400771,essv2400656 M 144 0 0 Samples from several populations that are part of the HapMap project. GLTP NA11918,NA12003,NA12717,NA18510 esv1367232 12 108790199 108790199 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069647 S 2 1 0 GLTP HuRef nsv884 12 108899339 108932770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2890 S 9 1 0 ANKRD13A,GIT2 NA18555 nsv820204 12 109057640 109064484 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419795 S 2 0 1 IFT81 AK1 esv1005096 12 109067646 109071127 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563792 S 3 1 0 IFT81 HuRef esv28186 12 109203186 109203881 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11016 S 451 0 1 ATP2A2 NA07045 esv1001296 12 109288845 109298754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563966 S 3 0 1 ANAPC7 HuRef nsv826512 12 109423195 109424622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432358 S 31 0 1 RAD9B,VPS29 AK20 esv1243811 12 109429699 109429749 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836586 S 2 0 1 RAD9B HuRef nsv507675 12 109442387 109448387 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623124 S 4 1 0 RAD9B NA18994 nsv885 12 109524003 109556756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4050 S 9 1 0 TCTN1 NA12878 esv23057 12 109529445 109533522 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12556 S 451 0 1 "" NA18511 esv28130 12 109622231 109631354 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12606 S 451 1 0 "" NA19114 esv1409369 12 109623890 109624254 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120635 S 2 0 1 "" HuRef nsv525818 12 109655409 109660877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702004 S 2026 0 1 PPP1CC nsv509476 12 109697802 109803929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620977 S 4 1 0 CCDC63 NA15510 esv24219 12 109711257 109722554 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14310 S 451 0 1 "" NA18909 nsv442287 12 109718337 109720108 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv7236 12 109773990 109854060 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6534 S 9 0 0 CCDC63,MYL2 NA12156 esv1606344 12 109789598 109789774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287171 S 2 0 1 CCDC63 HuRef nsv513365 12 109802681 109802927 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625758 S 1 1 0 CCDC63 1 esv2171541 12 109810791 109811220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854073 S 1 0 1 CCDC63 NA18507 esv1606463 12 109828142 109828142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670375 S 2 1 0 CCDC63 HuRef nsv438235 12 109867419 109876182 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470548,nssv470547 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12740,NA12751 esv25829 12 109956138 109957262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20442 S 451 0 1 CUX2 NA07045 esv22627 12 110174871 110175475 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17486 S 451 0 1 CUX2 NA18858 nsv832513 12 110206474 110377317 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450004 S 95 1 0 ATXN2,CUX2,FAM109A,SH2B3 nsv455714 12 110226605 110272785 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533216 S 1557 0 1 CUX2 NINDS_70 nsv513366 12 110247683 110248952 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625759 S 1 1 0 CUX2 1 nsv899519 12 110272785 110478095 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545055 S 6533 1 0 ATXN2,FAM109A,SH2B3 MS16643 nsv899520 12 110277935 110357550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510052 S 6533 0 1 FAM109A,SH2B3 SP54956 nsv516920 12 110282936 110284966 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656998,nssv654989,nssv674628 M 2026 0 3 FAM109A esv33030 12 110327642 110327823 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92782 S 51 0 1 "" 21944 nsv886 12 110337166 110371994 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9079 S 9 0 1 SH2B3 NA12156 esv28093 12 110340523 110340973 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14910 S 451 0 1 SH2B3 NA07045 nsv899521 12 110380282 110451385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518223 S 6533 0 1 ATXN2 SP57472 nsv510319 12 110408285 110414285 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624129 S 4 0 1 ATXN2 NA18994 esv26285 12 110431167 110431635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10431 S 451 0 1 ATXN2 NA19225 esv27842 12 110460928 110464263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21216 S 451 0 2 ATXN2 NA12239,NA12287 esv28414 12 110520254 110521928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9837 S 451 0 1 ATXN2 NA18907 dgv1492n71 12 110648029 110806867 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899523,nsv899522 M 6533 2 0 ACAD10,ALDH2,C12orf47,MAPKAPK5 IS39369,IS41703 nsv455715 12 110683463 110790548 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533217 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH2,C12orf47,MAPKAPK5 HGDP00962 nsv470317 12 110683463 110790548 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546982 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH2,C12orf47,MAPKAPK5 HGDP00962 nsv515716 12 110683463 110790548 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662555,nssv664521 M 2026 2 0 ALDH2,C12orf47,MAPKAPK5 esv6864 12 110780777 110781650 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29305 S 1 0 1 MAPKAPK5 SJK esv1010936 12 110813024 110824219 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563589 S 3 0 1 ADAM1,MAPKAPK5 HuRef nsv887 12 110925389 110934519 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9080 S 9 0 1 TMEM116 NA12156 nsv52789 12 110956958 110961122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71367 M 24 NAA25 esv1004944 12 111088312 111095131 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565433 S 3 0 1 C12orf51 HuRef nsv470318 12 111095097 111225092 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546983 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C12orf51 HGDP00451 esv4498 12 111154622 111156161 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26939 S 1 0 1 Single Asian sample YH C12orf51 YH esv1916833 12 111245980 111246434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515780 S 1 0 1 C12orf51 NA18507 esv271253 12 111261475 111261815 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515471,essv2515026,essv2515629,essv2516052,essv2513759,essv2518930,essv2518327 M 157 7 0 Samples from several populations that are part of the HapMap project. C12orf51 NA12249,NA12812,NA12815,NA12873,NA19143,NA19239,NA19240 esv272609 12 111261480 111261810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584823,essv2583393 M 7 2 0 Samples from several populations that are part of the HapMap project. C12orf51 NA19239,NA19240 nsv889 12 111367445 111412295 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9082 S 9 0 1 PTPN11 NA12156 nsv899524 12 111430974 111561063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519980 S 6533 1 0 PTPN11 SP50629 esv23452 12 111496181 111497140 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14534 S 451 2 0 "" NA06985,NA15510 esv2421512 12 111503852 111504440 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5099642,essv5039668,essv5085017,essv5144839,essv5042670,essv5106047,essv5132298,essv5110786,essv5071649,essv5136436,essv5005821,essv5065280,essv5040622,essv5132416,essv5002406,essv5044178,essv5091046,essv5134381,essv5135840,essv5108702,essv5138422,essv5128494,essv5060370,essv5052910,essv5142446,essv5060471,essv5137539,essv5147859,essv5160937,essv5051093,essv5095240,essv5061545,essv5018920,essv5126831,essv5054051,essv5118695,essv5019475,essv5154533,essv5025398,essv5075323,essv5065460,essv5029195,essv5051069,essv5015019,essv5041029,essv5020419,essv5038599,essv5009016,essv5151051,essv5155197,essv5122465,essv5141828,essv5128274,essv5155618,essv5111398,essv5037027,essv5144417,essv5060728,essv5027833,essv5059763,essv5069596,essv5154518,essv5150951,essv5129840,essv5019422,essv5059819,essv5114883,essv5029341,essv5095820,essv5097462,essv5010229,essv5037712,essv5084948,essv5146364,essv5070692,essv5038240,essv5131727,essv5023764,essv5008945,essv5096468,essv5036804,essv5119206,essv5086859,essv5051102,essv5121990,essv5140079,essv5060602,essv5121024,essv5091209,essv5123523,essv5067714,essv5096278,essv5022637,essv5118550,essv5105591,essv5088826,essv5126732,essv5114300,essv5106175,essv5038184,essv5095572,essv5018860,essv5040924,essv5127114,essv5031605,essv5057595,essv5122858,essv5065320,essv5153924,essv5131006,essv5064614,essv5004440,essv5080455,essv5125813,essv5034834,essv5074457,essv5035549,essv5072861,essv5049625,essv5149759,essv5129089,essv5062601,essv5106876,essv5110620,essv5117400,essv5068805,essv5148421,essv5116298,essv5091219,essv5112226,essv5129336,essv5064833,essv5083321,essv5085537,essv5085538,essv5040579,essv5058487,essv5156331,essv5012378,essv5026053,essv5087581,essv5142511,essv5053623,essv5003012,essv5045464,essv5150495,essv5038045,essv5053370,essv5131043,essv5014243,essv5155861,essv5049025,essv5072817,essv5047722,essv5079987,essv5082694,essv5066999,essv5156896,essv5057714,essv5105759,essv5069601,essv5003695,essv5134144,essv5153451,essv5142046,essv5115685,essv5080577,essv5160678,essv5094817,essv5021649,essv5134393,essv5144169,essv5148565,essv5141535,essv5094178,essv5147506,essv5119001,essv5099092,essv5053993,essv5118264,essv5005517,essv5108317,essv5108837,essv5069852,essv5029849,essv5014100,essv5027448,essv5053506,essv5050697,essv5062503,essv5078213,essv5021724,essv5105484,essv5047365,essv5150787,essv5094645,essv5157910,essv5009475,essv5056401,essv5073008,essv5071879,essv5038072,essv5085355,essv5071272,essv5059068,essv5004331,essv5117933,essv5100291,essv5140707,essv5142750,essv5118193,essv5084586,essv5110626,essv5134464,essv5031071,essv5127297,essv5158484,essv5145920,essv5013286,essv5089816,essv5066354,essv5063286,essv5040300,essv5127934,essv5004715,essv5058836,essv5097889,essv5059272,essv5105024,essv5116988,essv5086199,essv5095595,essv5151082,essv5075427,essv5018067,essv5025994,essv5079956,essv5088083,essv5089830,essv5062207,essv5058175,essv5089247,essv5108692,essv5070092,essv5126141,essv5013029,essv5106447,essv5042975,essv5060290,essv5012793,essv5066785,essv5151907,essv5118177,essv5153500,essv5014339,essv5149939,essv5071427,essv5054393,essv5065035,essv5105290,essv5053586,essv5125076,essv5055105,essv5140279,essv5046645,essv5160896,essv5109653,essv5135533,essv5133519,essv5126095,essv5051669,essv5024934,essv5055621,essv5074164,essv5092568,essv5065679,essv5156665,essv5066464,essv5137327,essv5096639,essv5115030,essv5084520,essv5114732,essv5061782,essv5009005,essv5065643,essv5004080,essv5094221,essv5125508,essv5016111,essv5153581,essv5122572,essv5090013,essv5026951,essv5085236,essv5052618,essv5006119,essv5063452,essv5046606,essv5137106,essv5015832,essv5076746,essv5089773,essv5098982,essv5031339,essv5037568,essv5140957,essv5018114,essv5142350,essv5113326,essv5053904,essv5120896,essv5083590,essv5112486,essv5114498,essv5073409,essv5116844,essv5143253,essv5015463,essv5027694,essv5160715,essv5037368,essv5050903,essv5033295,essv5036130,essv5124708,essv5161152,essv5113138,essv5072127 M 1184 0 329 "" NA07014,NA07031,NA07051,NA07055,NA10836,NA10837,NA10839,NA10846,NA10850,NA10853,NA10859,NA11839,NA11843,NA11882,NA12005,NA12144,NA12248,NA12272,NA12273,NA12275,NA12286,NA12336,NA12342,NA12343,NA12375,NA12767,NA12775,NA12777,NA12832,NA12842,NA12843,NA12889,NA12891,NA12892,NA17962,NA18105,NA18109,NA18155,NA18486,NA18489,NA18503,NA18504,NA18505,NA18509,NA18511,NA18515,NA18517,NA18552,NA18557,NA18577,NA18579,NA18615,NA18627,NA18628,NA18635,NA18640,NA18642,NA18643,NA18645,NA18674,NA18704,NA18749,NA18859,NA18860,NA18862,NA18863,NA18867,NA18869,NA18871,NA18872,NA18910,NA18916,NA18923,NA18930,NA18934,NA18943,NA18948,NA18949,NA18954,NA18961,NA18968,NA18974,NA18975,NA18993,NA19002,NA19027,NA19028,NA19031,NA19041,NA19044,NA19046,NA19087,NA19095,NA19101,NA19103,NA19107,NA19109,NA19118,NA19119,NA19120,NA19127,NA19129,NA19130,NA19132,NA19137,NA19139,NA19140,NA19141,NA19149,NA19150,NA19151,NA19152,NA19154,NA19176,NA19179,NA19180,NA19182,NA19183,NA19184,NA19186,NA19190,NA19198,NA19204,NA19207,NA19208,NA19223,NA19224,NA19226,NA19238,NA19240,NA19247,NA19249,NA19313,NA19316,NA19317,NA19321,NA19334,NA19346,NA19360,NA19372,NA19376,NA19379,NA19380,NA19381,NA19382,NA19384,NA19390,NA19391,NA19403,NA19430,NA19434,NA19440,NA19444,NA19445,NA19448,NA19449,NA19456,NA19467,NA19471,NA19472,NA19651,NA19661,NA19669,NA19671,NA19700,NA19702,NA19704,NA19712,NA19720,NA19722,NA19746,NA19748,NA19761,NA19763,NA19773,NA19777,NA19778,NA19779,NA19780,NA19781,NA19795,NA19904,NA19921,NA20126,NA20129,NA20279,NA20281,NA20282,NA20284,NA20292,NA20297,NA20300,NA20301,NA20302,NA20317,NA20332,NA20340,NA20344,NA20345,NA20363,NA20510,NA20518,NA20531,NA20539,NA20542,NA20752,NA20765,NA20770,NA20775,NA20787,NA20803,NA20806,NA20808,NA20812,NA20819,NA20845,NA20846,NA20847,NA20849,NA20852,NA20853,NA20858,NA20861,NA20862,NA20869,NA20871,NA20872,NA20873,NA20874,NA20875,NA20881,NA20883,NA20887,NA20888,NA20889,NA20890,NA20895,NA20898,NA20899,NA20901,NA20902,NA20903,NA20904,NA20906,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21103,NA21104,NA21106,NA21108,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21141,NA21142,NA21143,NA21144,NA21312,NA21320,NA21339,NA21353,NA21360,NA21364,NA21365,NA21366,NA21367,NA21370,NA21381,NA21391,NA21399,NA21402,NA21404,NA21405,NA21417,NA21418,NA21420,NA21424,NA21434,NA21435,NA21441,NA21442,NA21453,NA21454,NA21455,NA21473,NA21475,NA21477,NA21489,NA21490,NA21493,NA21494,NA21509,NA21522,NA21524,NA21525,NA21529,NA21576,NA21578,NA21587,NA21596,NA21608,NA21614,NA21617,NA21619,NA21631,NA21632,NA21650,NA21678,NA21682,NA21693,NA21722,NA21776,NA21784,NA21825 esv23786 12 111503889 111504412 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12503 S 451 0 1 "" NA18517 esv2642418 12 111555912 111557363 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213511 S 1 0 1 "" NA18507 esv3215 12 111556225 111556792 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25656 S 1 0 1 Single Asian sample YH "" YH esv1564229 12 111556384 111556592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349695 S 2 0 1 "" HuRef nsv826513 12 111632350 111637256 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429459 S 31 0 1 "" NA18947 esv3579 12 111634908 111635389 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26020 S 1 0 1 Single Asian sample YH "" YH esv2411510 12 111634969 111635427 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941885 S 1 0 1 "" NA18507 esv275396 12 111636612 111640184 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585664 S 1250 0 1 "" nsv438236 12 111640806 111657945 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470549,nssv470550 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18506,NA18508 nsv832515 12 111700212 111849119 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450005 S 95 1 0 OAS1,RPH3A esv987835 12 111755747 111755747 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574417 S 3 1 0 RPH3A HuRef esv275176 12 111766523 111773175 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585164,essv2585990 M 1250 1 1 RPH3A nsv832516 12 111805488 111962985 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450008,nssv1450007 M 95 2 0 OAS1,OAS2,OAS3,RPH3A esv25722 12 111844697 111851694 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11867 S 451 3 0 "" NA11931,NA12749,NA12878 nsv515628 12 111882074 111882522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673781,nssv664158 M 2026 0 2 OAS3 nsv890 12 111898153 111914077 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9083 S 9 1 0 OAS2 NA12156 nsv507676 12 111932511 111938511 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620520,nssv619093,nssv623125 M 4 3 0 OAS2 NA10860,NA15510,NA18994 nsv891 12 111950113 111976035 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5452 S 9 0 1 "" NA19129 esv23603 12 111958895 111963195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20059 S 451 0 1 "" NA19129 nsv519540 12 111964893 112381787 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676844,nssv656774,nssv696607 M 2026 1 2 C12orf52,CCDC42B,DDX54,DTX1,IQCD,PLBD2,RASAL1,SDS,SDSL,SLC24A6,TPCN1 nsv899525 12 111972325 112037791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510873 S 6533 0 1 DTX1,RASAL1 SP54988 dgv1493n71 12 111972325 112058657 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899529,nsv899526 M 6533 0 4 DTX1,RASAL1 IS32322,IS39233,MS16153,MS18276 nsv899527 12 111980029 112224354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530758 S 6533 0 1 C12orf52,CCDC42B,DDX54,DTX1,IQCD,RASAL1,SLC24A6,TPCN1 MS10311 nsv899528 12 111980029 112334764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546817 S 6533 0 1 C12orf52,CCDC42B,DDX54,DTX1,IQCD,PLBD2,RASAL1,SDS,SLC24A6,TPCN1 MS17208 esv259551 12 112013535 112013894 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393940 S 6 0 0 Samples from several populations that are part of the HapMap project. DTX1 NA12891 esv260035 12 112013545 112013910 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399072,essv2401154,essv2396794,essv2400730,essv2395381,essv2399627,essv2401078 M 144 0 0 Samples from several populations that are part of the HapMap project. DTX1 NA10851,NA11931,NA12249,NA12717,NA12749,NA12761,NA12891 nsv899530 12 112053180 112172242 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500784 S 6533 1 0 C12orf52,CCDC42B,DDX54,IQCD,RASAL1,TPCN1 SP50984 esv996809 12 112082977 112096753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563871 S 3 0 1 DDX54 HuRef esv2226471 12 112167305 112168027 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976114 S 1 0 1 TPCN1 NA18507 esv6807 12 112167505 112167824 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29248 S 1 0 1 TPCN1 SJK nsv512292 12 112370760 112374050 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624870 S 1 0 1 "" 1 esv1446954 12 112372825 112373003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3897328 S 2 0 1 "" HuRef esv1616670 12 112373180 112373570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355594 S 2 0 1 "" HuRef nsv892 12 112441904 112458772 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9084 S 9 0 1 "" NA12156 nsv52578 12 112465569 112465624 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71156 M 24 "" nsv510573 12 112503766 112601127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620053 S 4 0 1 "" NA15510 esv2637020 12 112564463 112564847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316168 S 1 0 1 "" NA18507 esv22970 12 112589034 112590584 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16556 S 451 1 0 "" NA19114 esv27041 12 112614060 112614525 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19555 S 451 1 0 "" NA18907 esv271554 12 112615368 112615626 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495445,essv2505532,essv2503429,essv2498376,essv2494583,essv2497824,essv2506317,essv2500154,essv2512741,essv2510061,essv2496137,essv2512876,essv2507537,essv2503745 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA12154,NA12716,NA18526,NA18550,NA18555,NA18566,NA18573,NA18577,NA18593,NA18603,NA18609,NA18638,NA18960 nsv893 12 112619869 112652215 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6535 S 9 1 0 "" NA12156 nsv455718 12 112658532 112683275 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533218 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00526 nsv527640 12 112722594 112725481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704110 S 2026 0 1 "" esv22413 12 112752452 112753090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20078 S 451 0 2 RBM19 NA12776,NA19108 nsv899531 12 112758730 112890720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533645 S 6533 0 1 RBM19 MS11249 nsv509477 12 112773944 112813992 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619613 S 4 1 0 RBM19 NA10860 nsv899532 12 112812931 112854287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557987 S 6533 0 1 RBM19 MS23025 nsv437770 12 112888591 112930745 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467651 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 nsv507677 12 112961273 112967273 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620521 S 4 1 0 "" NA15510 esv2454539 12 112985541 112986982 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370892 S 1 0 1 "" NA18507 esv1945378 12 112985794 112986549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858414 S 1 0 1 "" NA18507 esv29265 12 112985870 112986801 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18666 S 451 2 10 "" NA11995,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA19114,NA19129,NA19147,NA19225,NA19240 esv7207 12 112985996 112986302 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29648 S 1 0 1 "" SJK esv1535541 12 112986074 112986363 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864648 S 2 0 1 "" HuRef esv1119866 12 112986796 112986796 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939565 S 2 1 0 "" HuRef esv275319 12 112997830 113002651 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585488 S 1250 0 1 "" esv270939 12 113029777 113030103 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510737,essv2494126,essv2509675,essv2493823,essv2503264,essv2494574,essv2508281,essv2508631,essv2509337,essv2502483,essv2495109,essv2502679,essv2500760,essv2512113,essv2498098 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18508,NA18517,NA18542,NA18550,NA18561,NA18592,NA18909,NA18948,NA18964,NA18965,NA18973,NA19238,NA19240 esv273719 12 113029780 113030109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584039,essv2583770 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv273845 12 113050227 113050546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580274 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv267710 12 113050379 113050549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493282,essv2504049,essv2496446,essv2505315,essv2505780,essv2501423,essv2499018,essv2512154,essv2501951,essv2498258 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18510,NA18853,NA18861,NA19093,NA19114,NA19238,NA19239,NA19240 nsv894 12 113077908 113109820 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5453 S 9 1 0 "" NA19129 esv26751 12 113116482 113122376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13501 S 451 0 1 "" NA12749 nsv442288 12 113116586 113122288 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421543 12 113116586 113122292 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051663,essv5031990,essv5137418,essv5041406,essv5072582,essv5009325,essv5009156,essv5158612,essv5060764,essv5065397,essv5115337,essv5006898,essv5089949,essv5005625 M 1184 0 14 "" NA10846,NA12145,NA12749,NA19661,NA19662,NA19685,NA19686,NA19761,NA19788,NA20812,NA20815,NA21318,NA21379,NA21408 esv33215 12 113116665 113122275 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97332,essv100600 M 51 0 2 "" 21879,22298 nsv515517 12 113119011 113122292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653426,nssv668379,nssv664214,nssv657835,nssv665577,nssv683737,nssv666094,nssv687205,nssv677589,nssv655256,nssv657870 M 2026 0 11 "" nsv832517 12 113135149 113314551 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450009 S 95 1 0 TBX5 esv1040603 12 113204185 113204185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090624 S 2 1 0 "" HuRef esv1134821 12 113204205 113204205 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608477 S 2 1 0 "" HuRef esv1293258 12 113204318 113204380 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054751 S 2 0 1 "" HuRef esv23367 12 113210301 113210973 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20929 S 451 2 0 "" NA18916,NA19114 esv1005370 12 113212715 113212780 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580472 S 3 0 1 "" HuRef esv1046400 12 113212715 113212781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620248 S 2 0 1 "" HuRef nsv832518 12 113231721 113419963 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450010,nssv1450011 M 95 0 2 LOC255480,TBX5 nsv455720 12 113328586 113345201 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533219 S 1557 0 1 LOC255480,TBX5 1780862433_A nsv826514 12 113352733 113354186 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429471 S 31 1 0 "" NA18947 nsv826515 12 113353452 113354186 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429018,nssv1438392,nssv1422888 M 31 3 0 "" NA18552,NA18951,NA18968 dgv100n21 12 113454146 113490820 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521912,nsv522051 M 2026 0 2 "" nsv525839 12 113482934 113483357 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702031 S 2026 1 0 "" esv1404671 12 113498587 113498587 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705321 S 2 1 0 "" HuRef esv1765976 12 113508151 113508214 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039997 S 2 0 1 "" HuRef nsv53058 12 113562527 113562582 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71636 M 24 "" nsv53431 12 113567850 113571422 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72009 M 24 "" esv27507 12 113570400 113571677 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15657 S 451 0 2 "" NA18909,NA19147 nsv832519 12 113680931 113903453 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450012,nssv1450013 M 95 0 2 "" nsv826516 12 113715080 113716908 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429343 S 31 0 1 "" AK12 esv1074687 12 113736316 113736316 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708653 S 2 1 0 "" HuRef esv28751 12 113775990 113776506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15238 S 451 0 1 "" NA19108 nsv899533 12 113814252 113866808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545056 S 6533 1 0 "" MS16643 esv259519 12 113828127 113828512 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394147,essv2393801,essv2394019 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 esv260027 12 113828131 113828520 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398625,essv2396747,essv2400235,essv2400037,essv2396079,essv2398584,essv2399048,essv2400246,essv2395297,essv2400890,essv2396238,essv2400577,essv2400277,essv2396820,essv2396785,essv2396292,essv2399734,essv2397356,essv2396972,essv2395232,essv2399245,essv2396529,essv2396637,essv2398396,essv2399870,essv2397169,essv2398832,essv2399437,essv2397943,essv2395364,essv2395470,essv2398327,essv2399300,essv2397074 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11829,NA11918,NA11993,NA12006,NA12043,NA12154,NA12155,NA12249,NA12716,NA12828,NA12878,NA12892,NA18499,NA18508,NA18517,NA18526,NA18552,NA18561,NA18572,NA18582,NA18858,NA18907,NA18916,NA18948,NA19093,NA19102,NA19239 nsv52687 12 113828228 113828228 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71265 M 24 "" esv274940 12 113911241 113916558 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586175,essv2585725 M 1250 1 1 "" nsv510590 12 113969404 114021499 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620054 S 4 0 1 "" NA15510 nsv455721 12 114009458 114027842 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533220 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01063 nsv522639 12 114020549 114029339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706037 S 2026 0 1 "" nsv518378 12 114027288 114027842 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695807 S 2026 0 1 "" dgv101n21 12 114027288 114029339 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526565,nsv515549 M 2026 0 6 "" esv259720 12 114034732 114035033 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400334,essv2398886,essv2396665,essv2395614,essv2397849,essv2394919,essv2399445,essv2394665,essv2395447,essv2397756,essv2396978,essv2398357,essv2399774,essv2399501,essv2396354,essv2398027,essv2399663 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11995,NA12414,NA18501,NA18505,NA18545,NA18858,NA18870,NA18948,NA18956,NA18973,NA19093,NA19129,NA19137,NA19138,NA19147,NA19210 esv1156214 12 114034894 114034894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346085 S 2 1 0 "" HuRef nsv510574 12 114052335 114068485 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620055 S 4 0 1 "" NA15510 nsv899534 12 114095568 114143402 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542824 S 6533 1 0 "" MS15915 nsv526914 12 114123173 114126706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703275 S 2026 0 1 "" esv29022 12 114127855 114128331 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12601 S 451 2 0 "" NA12749,NA19240 nsv455723 12 114131894 114156665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533221 S 1557 0 1 "" 1780862015_A nsv899535 12 114170466 114256415 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545057 S 6533 1 0 "" MS16643 esv26484 12 114174464 114176388 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19301,esv15613 M 451 0 6 "" NA18858,NA18861,NA18909,NA19147,NA19190,NA19240 nsv528335 12 114175196 114175718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704917 S 2026 0 1 "" nsv437771 12 114195924 114214386 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467652 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 esv275535 12 114198900 114200863 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585977,essv2585753 M 1250 1 1 "" esv275109 12 114200863 114205908 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585143 S 1250 0 1 "" esv268104 12 114215439 114215777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515441,essv2517792,essv2517336,essv2513638 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12249,NA12878,NA18970 esv272433 12 114215439 114215777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581564 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1448833 12 114215476 114215476 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916769 S 2 1 0 "" HuRef nsv826517 12 114220367 114229835 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423705 S 31 0 1 "" NA18999 nsv528768 12 114223529 114229521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705432 S 2026 0 1 "" nsv524884 12 114285453 114287299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700890 S 2026 0 1 "" esv2563897 12 114296302 114297263 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264519 S 1 1 0 "" NA18507 nsv826518 12 114299377 114312781 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435365 S 31 0 1 "" NA18942 nsv510320 12 114313183 114319183 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622220 S 4 0 1 "" NA10860 nsv832520 12 114313981 114520437 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450014,nssv1450015 M 95 0 2 "" nsv470319 12 114393971 114425033 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546984 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01370 nsv510321 12 114500244 114506244 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618378,nssv624130 M 4 0 2 "" CHM,NA18994 nsv895 12 114536417 114571389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1119 S 9 1 0 "" NA19240 nsv52837 12 114561909 114564286 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71415 M 24 "" esv2521599 12 114620278 114620671 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214371 S 1 1 0 "" NA18507 nsv513367 12 114620353 114621285 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625760 S 1 1 0 "" 1 nsv832521 12 114644339 114804365 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450016 S 95 0 1 "" esv2179437 12 114693113 114693550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904328 S 1 0 1 "" NA18507 nsv53588 12 114693300 114693363 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72166 M 24 "" dgv527e1 12 114713333 114735117 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5767,esv916 M 271 0 0 "" NA18540 esv2453934 12 114721535 114722185 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221926 S 1 1 0 "" NA18507 nsv513368 12 114721721 114721965 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625761 S 1 1 0 "" 1 dgv1494n71 12 114766185 114840470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899536,nsv899537 M 6533 0 2 "" MS19277,MS23257 esv2264287 12 114776931 114777313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768506 S 1 0 1 "" NA18507 dgv1495n71 12 114820700 114997857 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899539,nsv899538 M 6533 2 0 MED13L MS14630,MS23973 nsv524703 12 114823672 114831843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700686 S 2026 0 1 "" nsv832522 12 114960307 115132869 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450018,nssv1450020,nssv1450022,nssv1450023,nssv1450019,nssv1450021 M 95 0 6 MED13L,MIR620 esv29009 12 115010862 115012863 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11571 S 451 0 1 MED13L NA11931 nsv52565 12 115046382 115046382 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71143 M 24 MED13L nsv826519 12 115185373 115207455 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429029 S 31 1 0 MED13L NA18968 esv21461 12 115199315 115200287 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10854 S 451 0 3 MED13L NA07045,NA12489,NA18907 nsv899540 12 115404886 115484244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545058 S 6533 1 0 LINC00173,MAP1LC3B2 MS16643 nsv528118 12 115491759 115518327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704661 S 2026 1 0 MAP1LC3B2 nsv896 12 115556110 115575644 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5454 S 9 1 0 "" NA19129 esv1254501 12 115569461 115569559 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180778 S 2 0 1 "" HuRef esv3209 12 115571203 115572702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25650 S 1 0 1 Single Asian sample YH "" YH esv7478 12 115571236 115572581 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29919 S 1 0 1 "" SJK nsv53379 12 115571268 115572606 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71957 M 24 "" esv23501 12 115571626 115572553 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17411 S 451 0 2 "" NA12006,NA12239 esv1010837 12 115572053 115572703 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587149 S 3 0 1 "" HuRef nsv826521 12 115572053 115572703 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427778,nssv1438393,nssv1424505,nssv1439222,nssv1436127,nssv1422889,nssv1433928 M 31 0 7 "" AK8,NA18526,NA18552,NA18566,NA18582,NA18951,NA18973 esv1010818 12 115574039 115577846 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565631 S 3 0 1 "" HuRef nsv832523 12 115574726 115758193 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450024,nssv1450026,nssv1450025,nssv1450027 M 95 1 3 C12orf49,RNFT2 nsv897 12 115576003 115609598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5455 S 9 1 0 "" NA19129 nsv521649 12 115611923 115621170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698267 S 2026 0 1 "" nsv526125 12 115621170 115623215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702376 S 2026 0 1 "" nsv53492 12 115673071 115675346 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72070 M 24 RNFT2 esv1515587 12 115764019 115764095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001580 S 2 0 1 RNFT2 HuRef nsv898 12 115771607 115806560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1120 S 9 1 0 HRK,RNFT2 NA19240 nsv832524 12 115798493 115980959 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450029 S 95 1 0 FBXW8,HRK,TESC nsv826522 12 115800762 115801647 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430093 S 31 1 0 HRK AK14 nsv519118 12 115870468 116005563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696594 S 2026 0 1 FBXW8,TESC nsv900 12 115873897 115907089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4051 S 9 1 0 FBXW8 NA12878 nsv899541 12 115899357 115981449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546818 S 6533 0 1 FBXW8,TESC MS17208 nsv832526 12 116014617 116208204 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450031,nssv1450032,nssv1450030 M 95 0 3 FBXO21,NOS1,TESC nsv899542 12 116034122 116107519 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545059 S 6533 1 0 FBXO21 MS16643 nsv826523 12 116044472 116044921 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427779 S 31 1 0 "" AK8 nsv510592 12 116103255 116169096 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617402 S 4 0 1 FBXO21,NOS1 CHM nsv826524 12 116125282 116127235 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441445,nssv1431576,nssv1440599,nssv1439928,nssv1436128,nssv1430865,nssv1426988,nssv1424506,nssv1433929,nssv1432359 M 31 0 10 "" AK16,AK18,AK20,AK6,NA18526,NA18537,NA18564,NA18566,NA18582,NA18969 nsv52574 12 116125356 116127936 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71152 M 24 "" esv25650 12 116125478 116128329 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21122 S 451 0 4 "" NA06985,NA07045,NA11931,NA12749 nsv53465 12 116178485 116179795 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72043 M 24 NOS1 nsv509478 12 116267554 116305187 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620978,nssv619614 M 4 2 0 NOS1 NA10860,NA15510 nsv901 12 116274998 116307595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10910,nssv2015,nssv6536,nssv4054 M 9 4 0 NOS1 NA12156,NA12878,NA15510,NA18555 nsv87 12 116289059 116306539 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv87 S 1 1 0 "" NA15510 esv271898 12 116298807 116298892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514925,essv2516139,essv2517770,essv2516244,essv2516854,essv2519424 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12812,NA12873,NA12878,NA12891,NA12892 esv274451 12 116298812 116304896 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581674,essv2582387,essv2583006 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1635292 12 116320836 116320891 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339369 S 2 0 1 "" HuRef nsv528231 12 116361493 116363619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704793 S 2026 0 1 "" nsv899543 12 116366795 116409591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545060 S 6533 1 0 KSR2 MS16643 nsv832527 12 116458390 116594627 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450033 S 95 1 0 KSR2 nsv528755 12 116459111 116468796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705417 S 2026 0 1 KSR2 esv1951791 12 116489779 116490276 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654124 S 1 0 1 KSR2 NA18507 nsv517825 12 116490024 116494692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695230 S 2026 0 1 KSR2 nsv442289 12 116533707 116535910 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KSR2 nsv519555 12 116631282 116635372 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659960,nssv671515,nssv656834,nssv705042 M 2026 3 1 KSR2 nsv509481 12 116648430 116718429 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623633 S 4 1 0 KSR2 NA18994 nsv53849 12 116663557 116671308 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72427 M 24 KSR2 esv1001837 12 116671263 116671381 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565006 S 3 1 0 KSR2 HuRef esv267730 12 116671290 116675129 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526146,essv2542497,essv2525510,essv2554040,essv2544455,essv2552046,essv2558467,essv2561798,essv2530505,essv2540059,essv2520863,essv2557405,essv2557108,essv2552382,essv2532379,essv2562749,essv2569375,essv2558746,essv2539101,essv2569735,essv2561726,essv2563031,essv2523852,essv2552764,essv2538178,essv2522259,essv2532847,essv2568007,essv2528794,essv2541874,essv2558989,essv2566799,essv2550992,essv2543476,essv2556329,essv2527749,essv2562403,essv2534171,essv2572999,essv2555376,essv2533693,essv2555647,essv2530039,essv2573930,essv2527432,essv2534482,essv2525731,essv2526769,essv2529569,essv2575085,essv2560519,essv2574658,essv2545042,essv2560363,essv2549663,essv2551275,essv2533393,essv2547689 M 157 58 0 Samples from several populations that are part of the HapMap project. KSR2 NA07051,NA07347,NA11918,NA11919,NA12156,NA12287,NA12414,NA12489,NA12750,NA12874,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18516,NA18519,NA18520,NA18523,NA18532,NA18537,NA18542,NA18547,NA18571,NA18576,NA18577,NA18579,NA18592,NA18638,NA18853,NA18858,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18952,NA18959,NA18980,NA19005,NA19093,NA19102,NA19116,NA19138,NA19172,NA19190,NA19225,NA19257 nsv899544 12 116676332 116691172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511475 S 6533 0 1 KSR2 SP55021 esv988370 12 116724519 116734306 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564079 S 3 0 1 KSR2 HuRef nsv899545 12 116801217 116851383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580539 S 6533 1 0 KSR2 IS35372 esv271713 12 116945947 116946032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516570 S 157 1 0 Samples from several populations that are part of the HapMap project. RFC5 NA12814 esv25263 12 116983614 116984496 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18643 S 451 1 0 "" NA11995 nsv899546 12 116999613 117048365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545061 S 6533 1 0 VSIG10 MS16643 esv2148077 12 117020297 117020708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553010 S 1 0 1 VSIG10 NA18507 nsv53654 12 117020409 117020498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72232 M 24 VSIG10 nsv52642 12 117020525 117020596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71220 M 24 VSIG10 nsv524938 12 117109119 117225058 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700952 S 2026 1 0 TAOK3 esv1533353 12 117215776 117216117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095386 S 2 0 1 TAOK3 HuRef nsv513369 12 117217294 117217762 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625762 S 1 1 0 TAOK3 1 nsv899547 12 117275824 117380687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540142 S 6533 1 0 SUDS3,TAOK3 MS14708 nsv899548 12 117394290 117471980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545062 S 6533 1 0 "" MS16643 esv21626 12 117421242 117422145 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12425 S 451 0 1 "" NA19240 nsv523621 12 117442991 117503526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699418 S 2026 0 1 "" nsv507678 12 117563325 117569325 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620523 S 4 1 0 "" NA15510 nsv519756 12 117576740 117711625 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694345 S 2026 1 0 "" nsv507679 12 117582875 117588875 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623126,nssv617847 M 4 2 0 "" CHM,NA18994 dgv528e1 12 117714077 117778706 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv885,essv1567 M 271 0 0 "" NA18997 nsv826525 12 117731846 117775115 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422109 S 31 0 1 "" NA18997 nsv528073 12 117753046 117753354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704609 S 2026 0 1 "" esv22419 12 117813181 117817234 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17471,esv20139 M 451 8 0 "" NA07037,NA11931,NA11993,NA18502,NA18511,NA18909,NA18916,NA19114 nsv899549 12 117869643 117915458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545063 S 6533 1 0 SRRM4 MS16643 nsv438238 12 117920136 117925595 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470551,nssv470553 M 269 0 2 Samples from several populations that are part of the HapMap project. SRRM4 NA18959,NA18976 dgv309n67 12 117925177 117927179 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826527,nsv826526 M 31 0 9 SRRM4 AK12,AK14,AK4,NA18542,NA18547,NA18570,NA18951,NA18972,NA18973 esv275551 12 117926021 117928096 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585839,essv2585479 M 1250 1 1 SRRM4 nsv529044 12 118014871 118016813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705760 S 2026 0 1 SRRM4 nsv455725 12 118016813 118042948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533222 S 1557 0 1 SRRM4 1780854538_A nsv521985 12 118021786 118023771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694116 S 2026 0 1 SRRM4 nsv902 12 118060495 118105523 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9085 S 9 0 1 HSPB8,SRRM4 NA12156 nsv899550 12 118065514 118138698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545064 S 6533 1 0 HSPB8,SRRM4 MS16643 nsv832528 12 118122594 118277784 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450034 S 95 1 0 CCDC60,LOC144742 esv275239 12 118147168 118151123 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585365 S 1250 0 1 "" nsv899551 12 118218257 118252311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553946 S 6533 0 1 LOC144742 MS20440 nsv899552 12 118218257 118299006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596757 S 6533 0 1 CCDC60,LOC144742 IS40627 nsv455726 12 118222165 118250048 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533223 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC144742 HGDP01378 esv269568 12 118253274 118253602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558049,essv2522774,essv2531714,essv2548575,essv2535378,essv2554201,essv2553544,essv2576342,essv2554955,essv2530578,essv2562068,essv2536344,essv2547641 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10851,NA11931,NA12006,NA12045,NA12249,NA12287,NA12763,NA12814,NA12872,NA12873,NA12874 nsv899553 12 118321633 118360954 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545065 S 6533 1 0 CCDC60 MS16643 nsv832529 12 118347761 118556029 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450035 S 95 0 1 CCDC60,TMEM233 esv2127888 12 118386030 118386710 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890377 S 1 0 1 CCDC60 NA18507 esv3817 12 118386152 118386639 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26258 S 1 0 1 Single Asian sample YH CCDC60 YH esv7481 12 118386239 118386520 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29922 S 1 0 1 CCDC60 SJK nsv515563 12 118470254 118475695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670907,nssv705689,nssv670532,nssv689375,nssv691181,nssv651853,nssv670264,nssv662793,nssv662244,nssv659353,nssv655961,nssv667838,nssv653151,nssv671605,nssv660954,nssv666362,nssv676820,nssv673275,nssv652740,nssv687358,nssv659658,nssv676545,nssv685397,nssv683396,nssv662980 M 2026 0 25 "" nsv437156 12 118472394 118479384 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467037 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12707 nsv512293 12 118472868 118477985 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624871 S 1 0 1 "" 1 nsv442290 12 118473270 118475144 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1385936 12 118489900 118489900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088573 S 2 1 0 "" HuRef esv1469372 12 118579385 118579488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716475 S 2 0 1 "" HuRef esv1316430 12 118685477 118685477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933265 S 2 1 0 CIT HuRef nsv510575 12 118787546 118921873 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622665,nssv622666 M 4 0 1 CCDC64,CIT NA18994 nsv510322 12 118818654 118824654 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621390 S 4 0 1 "" NA15510 nsv455728 12 118839946 118880678 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533224 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00572 nsv899554 12 118873996 118998008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536597 S 6533 1 0 CCDC64 MS12859 esv26018 12 118911022 118912371 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16207 S 451 0 2 CCDC64 NA07045,NA18907 nsv510323 12 118943862 118949862 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624131,nssv618379 M 4 0 2 CCDC64 CHM,NA18994 nsv903 12 118977129 118983510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2016 S 9 1 0 CCDC64 NA18555 nsv7237 12 118982864 118993403 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4055 S 9 0 0 CCDC64 NA12878 nsv899555 12 119003507 119324905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546819 S 6533 0 1 CCDC64,GCN1L1,LOC100506649,MIR4498,MSI1,PLA2G1B,PXN,RAB35,RPLP0,SIRT4 MS17208 nsv519657 12 119018079 119160473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696976 S 2026 0 1 GCN1L1,LOC100506649,MIR4498,PXN,RAB35,RPLP0 nsv832530 12 119070452 119242558 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450036 S 95 0 1 GCN1L1,LOC100506649,MIR4498,PXN,RPLP0,SIRT4 nsv904 12 119115372 119117223 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6537 S 9 1 0 GCN1L1 NA12156 nsv7238 12 119148423 119166906 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1121 S 9 0 0 PXN NA19240 nsv905 12 119166231 119207747 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9086,nssv1122 M 9 2 0 PXN NA12156,NA19240 nsv899556 12 119179524 119264314 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545066 S 6533 1 0 MSI1,PLA2G1B,PXN,SIRT4 MS16643 esv2468154 12 119208648 119209709 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198171 S 1 1 0 "" NA18507 nsv518764 12 119232296 119234900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696214 S 2026 0 1 SIRT4 esv24462 12 119285637 119294315 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14211 S 451 1 0 MSI1 NA12044 nsv509482 12 119357303 119417299 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620979,nssv623634 M 4 2 0 COX6A1,DYNLL1,GATC,LOC100506668,SRSF9,TRIAP1 NA15510,NA18994 esv2550358 12 119359104 119359734 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292767 S 1 1 0 "" NA18507 nsv513370 12 119359212 119359968 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625763 S 1 1 0 "" 1 esv2437297 12 119364057 119364870 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280221 S 1 1 0 "" NA18507 esv1665404 12 119364360 119364360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802033 S 2 1 0 "" HuRef nsv819389 12 119364481 119366859 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419423 S 2 0 1 TRIAP1 AK1 esv2579823 12 119389869 119390507 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288180 S 1 1 0 SRSF9 NA18507 nsv906 12 119458066 119502824 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9087 S 9 0 1 POP5,RNF10 NA12156 nsv907 12 119502480 119537060 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2891 S 9 1 0 POP5 NA18555 nsv521928 12 119526111 120279131 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694698 S 2026 1 0 ACADS,ANAPC5,C12orf43,CABP1,CAMKK2,HNF1A,HNF1A-AS1,MIR4700,MLEC,OASL,P2RX4,P2RX7,SPPL3,UNC119B nsv899557 12 119553584 119673499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510053 S 6533 0 1 ACADS,CABP1,MIR4700,MLEC,UNC119B SP54956 nsv899558 12 119645972 119664322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510874 S 6533 0 1 ACADS SP54988 esv1004916 12 119655724 119655783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577016 S 3 0 1 ACADS HuRef esv1488435 12 119655741 119655801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781841 S 2 0 1 ACADS HuRef esv1190904 12 119774622 119774776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961171 S 2 0 1 SPPL3 HuRef esv1624453 12 119775009 119775009 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267269 S 2 1 0 SPPL3 HuRef esv2591284 12 119806048 119807582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210803 S 1 0 1 SPPL3 NA18507 nsv899559 12 119809110 120077072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600115 S 6533 1 0 C12orf43,HNF1A,HNF1A-AS1,OASL,P2RX7,SPPL3 IS41840 nsv908 12 119822968 119857038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9089 S 9 1 0 SPPL3 NA12156 esv23186 12 119824907 119826650 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18160,esv19320 M 451 0 4 SPPL3 NA07045,NA11995,NA12239,NA19257 esv1734292 12 119850305 119850305 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639670 S 2 1 0 "" HuRef esv1627354 12 119850323 119850323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074900 S 2 1 0 "" HuRef dgv1496n71 12 119855616 120050253 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899562,nsv899560,nsv899561 M 6533 3 0 C12orf43,HNF1A,HNF1A-AS1,OASL IS37683,IS38384,IS41848 dgv529e1 12 119900228 120069196 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv296,essv481 M 271 0 0 C12orf43,HNF1A,OASL,P2RX7 NA18952 nsv832531 12 119924878 120088615 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450037,nssv1450038 M 95 2 0 C12orf43,OASL,P2RX7 esv2512514 12 119974811 119975165 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181013 S 1 1 0 "" NA18507 nsv513371 12 119974899 119974994 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625764 S 1 1 0 "" 1 esv1553038 12 119974966 119974966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116379 S 2 1 0 "" HuRef nsv442291 12 120020329 120022886 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515743 12 120024729 120026214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680338,nssv664647,nssv673600,nssv660885,nssv660584,nssv663121,nssv683584 M 2026 0 7 "" nsv899563 12 120027394 120084912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545067 S 6533 1 0 P2RX7 MS16643 esv1427182 12 120053046 120053046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879013 S 2 1 0 "" HuRef esv26396 12 120087130 120088515 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17508 S 451 1 0 P2RX7 NA12156 nsv899564 12 120125892 120174181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580893 S 6533 0 1 CAMKK2,P2RX4 IS35484 nsv899565 12 120125892 120183168 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584663,nssv1585955 M 6533 1 1 CAMKK2,P2RX4 IS37110,IS37646 nsv455731 12 120152637 120171557 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533226 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAMKK2,P2RX4 HGDP01174 nsv513372 12 120176568 120177616 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625765 S 1 1 0 CAMKK2 1 esv1008629 12 120177284 120177503 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565525 S 3 1 0 CAMKK2 HuRef nsv826528 12 120223848 120226070 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426989 S 31 0 1 "" AK6 esv32620 12 120306144 120306252 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98837 S 51 0 1 "" 21606 nsv509483 12 120382199 120439556 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619615 S 4 1 0 KDM2B NA10860 esv1005622 12 120433270 120438262 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564460 S 3 1 0 KDM2B HuRef nsv909 12 120436174 120444036 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2892 S 9 1 0 KDM2B NA18555 esv1005547 12 120436793 120437739 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587154 S 3 0 1 KDM2B HuRef nsv527988 12 120598976 120601177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704508 S 2026 0 1 "" esv270817 12 120605978 120606063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516754 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv23433 12 120623131 120626607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9816 S 451 0 3 "" NA18502,NA18909,NA19225 nsv899566 12 120651478 120749489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546820 S 6533 0 1 LOC338799,RHOF,SETD1B,TMEM120B MS17208 esv2625237 12 120669342 120671138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199982 S 1 0 1 TMEM120B NA18507 esv1943412 12 120669380 120670424 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525050 S 1 0 1 TMEM120B NA18507 esv22633 12 120669524 120670689 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13281,esv17417 M 451 3 8 TMEM120B NA06985,NA12156,NA15510,NA18508,NA18916,NA19108,NA19114,NA19129,NA19190,NA19240,NA19257 esv1527792 12 120669591 120669591 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996121 S 2 1 0 TMEM120B HuRef nsv899567 12 120688063 120765958 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545068 S 6533 1 0 HPD,LOC338799,RHOF,SETD1B,TMEM120B MS16643 esv33181 12 120718536 120719004 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93745 S 51 0 1 LOC338799 21972 nsv911 12 120718907 120763808 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5456 S 9 0 1 HPD,LOC338799,SETD1B NA19129 nsv899568 12 120739096 120940907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550766 S 6533 1 0 HPD,PSMD9,SETD1B,WDR66 MS18599 nsv520973 12 120749489 120751601 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679074,nssv680737 M 2026 0 2 SETD1B nsv912 12 120764074 120796288 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9977 S 9 1 0 HPD NA18956 esv2433173 12 120766238 120768064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390791 S 1 0 1 HPD NA18507 esv2164211 12 120773808 120774510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612945 S 1 0 1 HPD NA18507 esv1346224 12 120773979 120774324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907206 S 2 0 1 HPD HuRef esv34001 12 120783120 121153099 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BCL7A,HPD,MLXIP,PSMD9,WDR66 esv24243 12 121200928 121215839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21424 S 451 0 1 "" NA19114 esv1273346 12 121513370 121513420 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619910 S 2 0 1 "" HuRef nsv899570 12 121551010 121655162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545069 S 6533 1 0 KNTC1,RSRC2,ZCCHC8 MS16643 esv2574323 12 121575447 121577018 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209534 S 1 0 1 RSRC2 NA18507 esv2279643 12 121576093 121576829 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757119 S 1 0 1 RSRC2 NA18507 esv1004502 12 121576220 121576983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564397 S 3 0 1 RSRC2 HuRef esv5088 12 121576234 121576743 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27529 S 1 0 1 Single Asian sample YH RSRC2 YH esv993685 12 121576291 121576619 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571560 S 3 0 1 RSRC2 HuRef esv2501949 12 121576292 121576620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294322 S 1 0 1 RSRC2 NA18507 esv9727 12 121576295 121576616 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32168 S 1 0 1 RSRC2 SJK esv1035767 12 121576299 121576628 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723215 S 2 0 1 RSRC2 HuRef nsv53703 12 121576300 121576628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72281 M 24 RSRC2 nsv826529 12 121611668 121612391 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427781 S 31 1 0 KNTC1 AK8 nsv826530 12 121644940 121645705 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432360 S 31 0 1 KNTC1 AK20 esv29873 12 121705841 121708732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16823,esv12951,esv15230 M 451 0 7 "" NA11995,NA12004,NA12239,NA12489,NA12776,NA18505,NA18858 nsv820326 12 121706644 121708997 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421021 S 1 1 0 "" NA10851 esv2308264 12 121713602 121713966 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654078 S 1 0 1 "" NA18507 esv26589 12 121744059 121776624 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10672,esv13329 M 451 4 0 HCAR2,HCAR3 NA11894,NA12287,NA18916,NA19257 esv8843 12 121747642 121761077 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31284 S 1 0 1 HCAR2 SJK esv8582 12 121752506 121765953 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31023 S 1 0 1 HCAR2,HCAR3 SJK nsv53263 12 121754929 121759450 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71841 M 24 "" nsv913 12 121755985 121782802 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2017 S 9 1 0 HCAR1,HCAR3 NA18555 esv1199100 12 121759351 121759401 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006184 S 2 0 1 "" HuRef nsv899571 12 121781687 121929515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599421 S 6533 0 1 CCDC62,DENR,HIP1R,VPS37B IS41634 dgv1497n71 12 121858456 122094358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899573,nsv899572,nsv899576 M 6533 0 3 ABCB9,ARL6IP4,CCDC62,HIP1R,MIR4304,OGFOD2,PITPNM2,VPS37B IS37646,IS39233,MS17208 nsv517200 12 121878004 122220451 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685197,nssv692845,nssv654990,nssv678468,nssv701966,nssv681711,nssv665382,nssv667421,nssv659493,nssv653995,nssv652166,nssv691747,nssv691449,nssv669548,nssv669422,nssv700220,nssv673842,nssv651670,nssv663666,nssv683684,nssv685660,nssv702811,nssv661066,nssv698769,nssv668720,nssv663538,nssv656945,nssv667934,nssv672586,nssv693398,nssv684591,nssv687393,nssv661596,nssv660171,nssv672825,nssv657836,nssv656201,nssv652303,nssv688327,nssv668488,nssv674525,nssv659265,nssv673986,nssv655520,nssv694009 M 2026 0 45 ABCB9,ARL6IP4,HIP1R,LOC100507091,MIR4304,MPHOSPH9,OGFOD2,PITPNM2,VPS37B dgv1498n71 12 121882519 121926104 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899575,nsv899574 M 6533 0 2 HIP1R,VPS37B SP54956,SP54988 nsv52669 12 121903717 121903840 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71247 M 24 HIP1R esv1005186 12 121903895 121904049 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585331 S 3 0 1 HIP1R HuRef esv1123331 12 121903902 121904057 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996786 S 2 0 1 HIP1R HuRef nsv52581 12 121903903 121904057 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71159 M 24 HIP1R nsv7239 12 121912478 121937720 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9289 S 9 0 0 HIP1R,VPS37B NA18517 nsv513373 12 121952854 121952922 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625767 S 1 1 0 "" 1 dgv22n68 12 121961880 122155243 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832532,nsv832533 M 95 0 4 ABCB9,ARL6IP4,LOC100507091,MIR4304,OGFOD2,PITPNM2 nsv455732 12 121993526 122140791 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533227 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCB9,ARL6IP4,LOC100507091,MIR4304,OGFOD2,PITPNM2 HGDP01003 nsv899577 12 122001201 122050427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510055 S 6533 0 1 ABCB9,ARL6IP4,OGFOD2,PITPNM2 SP54956 nsv899578 12 122024958 122040482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510876 S 6533 0 1 ARL6IP4,OGFOD2,PITPNM2 SP54988 nsv914 12 122027862 122059198 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5457 S 9 1 0 ARL6IP4,OGFOD2,PITPNM2 NA19129 esv2646329 12 122098259 122098654 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368760 S 1 0 1 PITPNM2 NA18507 esv28503 12 122285376 122285829 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14000 S 451 0 1 C12orf65 NA12776 esv996114 12 122307546 122308396 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586956 S 3 1 0 C12orf65 HuRef nsv826532 12 122310130 122312096 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422110 S 31 1 0 CDK2AP1 NA18997 esv1057986 12 122325960 122325960 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986049 S 2 1 0 "" HuRef nsv826533 12 122403754 122404632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441446 S 31 0 1 "" NA18969 nsv899579 12 122408970 122467433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510056 S 6533 0 1 RILPL2,SETD8 SP54956 nsv826534 12 122425563 122442307 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433931 S 31 1 0 SETD8 NA18526 dgv37e19 12 122440043 122445544 CNV Loss Ahn et al 2009 19470904 Sequencing esv7028,esv8369 M 1 0 1 SETD8 SJK esv2417445 12 122441130 122445701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553002 S 1 0 1 SETD8 NA18507 esv987770 12 122500717 122504373 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564598 S 3 1 0 "" HuRef esv1517115 12 122503338 122503446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599506 S 2 0 1 "" HuRef esv1328844 12 122503670 122503670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602074 S 2 1 0 "" HuRef esv1489716 12 122572064 122572176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763285 S 2 0 1 RILPL1 HuRef esv2422416 12 122575629 122651642 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161444 S 181 1 0 MIR3908,RILPL1,TMED2 ND01703 esv24540 12 122582975 122583570 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13410 S 451 8 0 RILPL1 NA12044,NA12239,NA18858,NA18916,NA19147,NA19225,NA19240,NA19257 dgv530e1 12 122676075 122761809 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22281,essv22803,esv1366 M 271 0 0 EIF2B1,GTF2H3,TCTN2 NA12753,NA12762 nsv442292 12 122681000 122761807 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EIF2B1,GTF2H3,TCTN2 esv35148 12 122685073 122762073 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978885,essv6986739 M 771 1 0 GTF2H3,TCTN2 NA12753 nsv524660 12 122685936 122760391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700628 S 2026 1 0 GTF2H3,TCTN2 nsv455733 12 122685936 122761809 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533228 S 1557 1 0 GTF2H3,TCTN2 NINDS_10 nsv832534 12 122723558 122800564 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450047,nssv1450044,nssv1450046,nssv1450045 M 95 0 4 ATP6V0A2,TCTN2 nsv519344 12 122737856 122760391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661741,nssv655521 M 2026 2 0 TCTN2 esv2619454 12 122778581 122779690 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388445 S 1 1 0 ATP6V0A2 NA18507 esv1436194 12 122779290 122779290 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841292 S 2 1 0 ATP6V0A2 HuRef esv2274657 12 122803473 122803867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536485 S 1 0 1 ATP6V0A2 NA18507 esv993337 12 122803586 122803665 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573301 S 3 0 1 ATP6V0A2 HuRef nsv522321 12 122949903 122990589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695101 S 2026 0 1 CCDC92,DNAH10 nsv915 12 122951510 122985752 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4056 S 9 1 0 DNAH10 NA12878 nsv509484 12 122957158 122975983 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619617,nssv618096 M 4 2 0 DNAH10 CHM,NA10860 esv29401 12 122961856 122963005 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14602 S 451 1 1 DNAH10 NA11993,NA12776 esv1783084 12 122962128 122962128 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728463 S 2 1 0 DNAH10 HuRef esv998816 12 122963005 122963010 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565544 S 3 1 0 DNAH10 HuRef esv259727 12 122996389 122996640 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401150,essv2395586,essv2394694,essv2398311,essv2396398,essv2397224 M 144 0 0 Samples from several populations that are part of the HapMap project. CCDC92 NA11931,NA18501,NA18870,NA19093,NA19138,NA19225 esv1305470 12 122996525 122996525 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3822442 S 2 1 0 CCDC92 HuRef nsv820508 12 123061389 123066756 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421022 S 1 1 0 ZNF664,ZNF664-FAM101A NA10851 nsv826535 12 123061389 123066756 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441447 S 31 1 0 ZNF664,ZNF664-FAM101A NA18969 nsv819172 12 123061998 123062937 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419129 S 2 0 1 ZNF664,ZNF664-FAM101A AK1 esv22500 12 123062059 123065943 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12431 S 451 0 34 ZNF664,ZNF664-FAM101A NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819689 12 123063328 123065951 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419456 S 2 0 1 ZNF664,ZNF664-FAM101A AK1 nsv899580 12 123065495 123131211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544909 S 6533 0 1 ZNF664,ZNF664-FAM101A MS16588 nsv520633 12 123114347 123249158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697529 S 2026 1 0 ZNF664-FAM101A esv268914 12 123123789 123124124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514758,essv2516329 M 157 2 0 Samples from several populations that are part of the HapMap project. ZNF664-FAM101A NA12234,NA12814 nsv523233 12 123127756 123131211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698956 S 2026 0 1 ZNF664-FAM101A nsv518962 12 123127756 123149399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696429 S 2026 0 1 ZNF664-FAM101A esv4640 12 123274901 123275215 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27081 S 1 0 1 Single Asian sample YH ZNF664-FAM101A YH nsv53136 12 123274955 123275071 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71714 M 24 ZNF664-FAM101A esv2507408 12 123285119 123285948 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245552 S 1 1 0 ZNF664-FAM101A NA18507 nsv470320 12 123290729 123338468 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546985 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF664-FAM101A HGDP00661 esv29133 12 123291421 123292703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19145 S 451 0 4 ZNF664-FAM101A NA18505,NA19099,NA19114,NA19190 esv995708 12 123296886 123301709 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564296 S 3 0 1 ZNF664-FAM101A HuRef nsv818930 12 123306943 123442086 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415693 S 112 1 0 FAM101A,NCOR2,ZNF664-FAM101A NA12248 nsv899581 12 123338468 123429513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585957,nssv1532466 M 6533 0 2 FAM101A,NCOR2,ZNF664-FAM101A IS37646,MS10769 dgv1499n71 12 123338468 123587668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899582,nsv899583 M 6533 0 2 FAM101A,NCOR2,ZNF664-FAM101A MS10311,MS18276 esv1202818 12 123346614 123346614 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111616 S 2 1 0 FAM101A,ZNF664-FAM101A HuRef nsv53622 12 123361774 123361893 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72200 M 24 FAM101A,ZNF664-FAM101A nsv470322 12 123364366 123502556 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546988,nssv546986,nssv546990,nssv546989 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM101A,NCOR2,ZNF664-FAM101A HGDP00302,HGDP00661,HGDP00960,HGDP01412 nsv826536 12 123373939 123375224 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441448 S 31 1 0 NCOR2 NA18969 nsv832535 12 123377307 123551182 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450048,nssv1450049 M 95 2 0 NCOR2 dgv1500n71 12 123377808 123469222 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899586,nsv899584,nsv899585 M 6533 0 3 NCOR2 IS39233,MS11237,MS17208 nsv826537 12 123386845 123387414 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436966 S 31 1 0 NCOR2 NA18542 nsv916 12 123387539 123394734 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1123 S 9 1 0 NCOR2 NA19240 nsv455737 12 123399338 123438540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533229 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCOR2 HGDP01351 nsv899587 12 123405493 123469222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543627 S 6533 0 1 NCOR2 MS16153 esv2428288 12 123408338 123408430 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385295 S 1 0 1 NCOR2 NA18507 dgv1501n71 12 123411389 123446837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899588,nsv899589 M 6533 0 2 NCOR2 SP54956,SP54988 esv1526249 12 123424236 123424326 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188113 S 2 0 1 NCOR2 HuRef nsv455738 12 123425197 123451202 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533230 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCOR2 HGDP00977 esv1449756 12 123429516 123429516 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802331 S 2 1 0 NCOR2 HuRef nsv832538 12 123432365 123613340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450055,nssv1450053,nssv1450054,nssv1450051,nssv1450062,nssv1450057,nssv1450056,nssv1450060,nssv1450059,nssv1450058,nssv1450064,nssv1450063,nssv1450065,nssv1450052 M 95 0 14 NCOR2 esv1465850 12 123467630 123467630 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246692 S 2 1 0 NCOR2 HuRef esv2130547 12 123481409 123481915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673045 S 1 0 1 NCOR2 NA18507 esv1008328 12 123489720 123493150 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564870 S 3 1 0 NCOR2 HuRef esv1669172 12 123489770 123489770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320928 S 2 1 0 NCOR2 HuRef esv1118928 12 123489848 123489848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174765 S 2 1 0 NCOR2 HuRef esv1772285 12 123489920 123489920 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773902 S 2 1 0 NCOR2 HuRef dgv1502n71 12 123493923 123596892 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899590,nsv899592 M 6533 0 3 NCOR2 IS33504,IS37646,IS39233 nsv899591 12 123496404 123536019 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538672 S 6533 0 1 NCOR2 MS13770 nsv899593 12 123536019 123625880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546824 S 6533 0 1 NCOR2 MS17208 nsv832539 12 123537552 123739462 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450066 S 95 0 1 NCOR2 nsv455739 12 123549878 123571095 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533231 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCOR2 HGDP00438 nsv470323 12 123561347 123613242 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546991 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCOR2 HGDP01412 nsv821299 12 123590569 123592444 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421023 S 1 0 1 NCOR2 NA10851 esv24001 12 123590569 123592564 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14074 S 451 5 0 NCOR2 NA06985,NA12044,NA12156,NA15510,NA18916 esv2278689 12 123721842 123722303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670542 S 1 0 1 "" NA18507 esv5996 12 123722624 123723189 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28437 S 1 0 1 "" SJK esv25648 12 123731992 123734676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18908 S 451 0 1 "" NA12828 nsv899594 12 123764528 123823504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545070 S 6533 1 0 "" MS16643 nsv899595 12 123764528 123835276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546825 S 6533 0 1 SCARB1 MS17208 nsv52719 12 123850879 123853662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71297 M 24 SCARB1 esv1953401 12 123900177 123900764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834991 S 1 0 1 SCARB1 NA18507 esv29897 12 123947778 123952549 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18601 S 451 1 0 "" NA18505 esv1694500 12 123958269 123958269 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223169 S 2 1 0 "" HuRef esv1696538 12 123962537 123962993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727121 S 2 0 1 UBC HuRef nsv520994 12 123977959 124012389 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684095,nssv679465,nssv701344 M 2026 1 2 DHX37 esv1114476 12 124027245 124027462 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590812 S 2 0 1 DHX37 HuRef nsv509485 12 124041440 124076253 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619618 S 4 1 0 BRI3BP NA10860 esv998178 12 124049223 124051030 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563452 S 3 1 0 BRI3BP HuRef nsv524395 12 124077160 124077496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700313 S 2026 0 1 "" esv993732 12 124086632 124086632 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567281 S 3 1 0 "" HuRef esv1239275 12 124086677 124086677 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300044 S 2 1 0 "" HuRef nsv899596 12 124139560 124242842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529858 S 6533 0 1 AACS MS10123 esv2784 12 124140545 124140878 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25225 S 1 0 1 Single Asian sample YH AACS YH nsv519030 12 124217650 124222355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696499 S 2026 0 1 "" esv22344 12 124254659 124256204 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16454 S 451 1 0 "" NA12749 nsv917 12 124348342 124373911 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4057,nssv2894 M 9 2 0 "" NA12878,NA18555 nsv509486 12 124359438 124371196 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620980 S 4 1 0 "" NA15510 nsv507680 12 124362968 124368968 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623127 S 4 1 0 "" NA18994 esv1010194 12 124366607 124368872 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563973 S 3 1 0 "" HuRef esv1057549 12 124367117 124367117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064685 S 2 1 0 "" HuRef nsv832540 12 124397616 124582755 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450067 S 95 1 0 TMEM132B nsv918 12 124403685 124438979 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1124 S 9 1 0 TMEM132B NA19240 esv7647 12 124460565 124461371 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30088 S 1 0 1 TMEM132B SJK esv24345 12 124463095 124463684 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15665 S 451 0 1 TMEM132B NA18505 nsv832541 12 124482884 124676274 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450068 S 95 1 0 TMEM132B esv4399 12 124518367 124518832 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26840 S 1 0 1 Single Asian sample YH TMEM132B YH nsv518416 12 124536421 124554155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695851 S 2026 0 1 TMEM132B esv274917 12 124559159 124565838 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585742 S 1250 0 1 TMEM132B nsv899597 12 124571950 124635887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545071 S 6533 1 0 TMEM132B MS16643 esv2402185 12 124584999 124585422 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868096 S 1 0 1 TMEM132B NA18507 esv991637 12 124585174 124585229 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577189 S 3 0 1 TMEM132B HuRef esv1336277 12 124663426 124663426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689406 S 2 1 0 TMEM132B HuRef nsv919 12 124683668 124717802 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2895 S 9 1 0 TMEM132B NA18555 nsv920 12 124743548 124776891 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9090 S 9 1 0 "" NA12156 esv23785 12 124752556 124753391 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16487 S 451 0 1 "" NA12489 nsv437772 12 124769420 124777214 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467653 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv438239 12 124772720 124773911 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470554,nssv470555 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19131,NA19132 nsv826538 12 124776636 124783890 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427782 S 31 1 0 "" AK8 esv33967 12 124783529 124791066 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93334 S 51 1 0 "" 22170 nsv899598 12 124798180 124875111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557005 S 6533 0 1 "" MS22322 esv990366 12 124906808 124906808 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577622 S 3 1 0 "" HuRef esv1407092 12 124906809 124906809 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695483 S 2 1 0 "" HuRef nsv899599 12 124960420 125141612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588337 S 6533 1 0 LOC400084 IS38182 esv1007158 12 125014268 125014764 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587105 S 3 0 1 LOC400084 HuRef nsv522232 12 125035703 125048773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695010 S 2026 0 1 "" nsv899600 12 125072293 125107274 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545072 S 6533 1 0 "" MS16643 esv23355 12 125137886 125139131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13310 S 451 0 1 "" NA19099 nsv922 12 125160915 125194156 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9091 S 9 1 0 "" NA12156 nsv528567 12 125241618 125246299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705186 S 2026 0 1 "" nsv923 12 125319529 125358392 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1125,nssv2018 M 9 0 2 "" NA18555,NA19240 nsv924 12 125333071 125372844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1126,nssv6538,nssv5458 M 9 3 0 "" NA12156,NA19129,NA19240 nsv515762 12 125335886 125795459 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667106,nssv674629,nssv662267,nssv659629,nssv656138,nssv701139,nssv696305,nssv693028,nssv665473,nssv704380,nssv679852,nssv682569,nssv664706,nssv661670,nssv695313,nssv690339,nssv681867 M 2026 5 12 LOC100128554,LOC100507206,LOC387895 nsv510594 12 125339232 125356959 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622667,nssv618897 M 4 0 2 "" NA10860,NA18994 esv2600113 12 125349161 125356474 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351832 S 1 0 1 "" NA18507 esv1942022 12 125349263 125355749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676211 S 1 0 1 "" NA18507 nsv512294 12 125349380 125355620 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624872 S 1 0 1 "" 1 esv4494 12 125349429 125355647 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26935 S 1 0 1 Single Asian sample YH "" YH nsv498806 12 125349456 125355565 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585667 S 9 0 1 "" esv8165 12 125349467 125355547 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30606 S 1 0 1 "" SJK dgv531e1 12 125365094 125403318 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9845,esv1315 M 271 0 0 "" NA19144 esv272855 12 125368864 125374950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581759,essv2582693,essv2583132,essv2584188,essv2584841,essv2583496 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv267506 12 125368864 125374965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565891,essv2571705,essv2546539,essv2521273,essv2525921,essv2536784,essv2543882,essv2568066,essv2545269,essv2548387,essv2521611,essv2550390,essv2554159,essv2544481,essv2529385,essv2558241,essv2564374,essv2553572,essv2559593,essv2520229,essv2564204,essv2561909,essv2537301,essv2528567,essv2547026,essv2540090,essv2520998,essv2557354,essv2557111,essv2551945,essv2532375,essv2562632,essv2569215,essv2578558,essv2558749,essv2538878,essv2569729,essv2561681,essv2540519,essv2524563,essv2532835,essv2528723,essv2541623,essv2569924,essv2535884,essv2559135,essv2566819,essv2542118,essv2568901,essv2543727,essv2556251,essv2527803,essv2562325,essv2578288,essv2555245,essv2555512,essv2527448,essv2531525,essv2573287,essv2572186,essv2538480,essv2526359,essv2560630,essv2524124,essv2574717,essv2530439,essv2545199,essv2571325,essv2545756,essv2574110,essv2551333,essv2535980,essv2533063,essv2554446 M 157 74 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA11829,NA11840,NA11881,NA11894,NA11918,NA11920,NA11992,NA11995,NA12003,NA12045,NA12144,NA12234,NA12287,NA12414,NA12749,NA12750,NA12751,NA12763,NA12776,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18519,NA18520,NA18523,NA18552,NA18555,NA18576,NA18579,NA18592,NA18593,NA18608,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18943,NA18945,NA18952,NA18961,NA18969,NA18973,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19172,NA19238,NA19239,NA19240,NA19257 nsv437773 12 125384443 125399058 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467654 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19145 nsv818931 12 125386080 125391915 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418201,nssv1418202 M 112 0 2 "" NA19144,NA19145 nsv9006 12 125386790 125395488 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22138 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv442293 12 125388402 125395161 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514650 12 125388928 125392640 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627118 S 1414 0 0 "" nsv899601 12 125389454 125421011 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545073 S 6533 1 0 "" MS16643 essv14677 12 125389632 125398358 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19145 esv2257268 12 125391183 125391622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501162 S 1 0 1 "" NA18507 esv271701 12 125455794 125456137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516650,essv2518694,essv2518475,essv2515129,essv2515745,essv2518028,essv2517850 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12045,NA12287,NA12812,NA12815,NA12872,NA12878 esv273584 12 125455794 125456137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581413 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv510324 12 125468661 125474661 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624132,nssv618380,nssv621391,nssv622221 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1004051 12 125469806 125471562 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563918 S 3 0 1 "" HuRef esv2794 12 125471016 125471533 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25235 S 1 0 1 Single Asian sample YH "" YH esv1008161 12 125471059 125471372 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566283 S 3 0 1 "" HuRef esv6031 12 125471069 125471373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28472 S 1 0 1 "" SJK esv1471102 12 125471069 125471383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019332 S 2 0 1 "" HuRef nsv53717 12 125471070 125471383 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72295 M 24 "" esv275027 12 125506097 125507241 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585622 S 1250 0 1 LOC100128554 esv273387 12 125519791 125519893 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580075,essv2580377,essv2579868,essv2579108,essv2579671 M 7 5 0 Samples from several populations that are part of the HapMap project. LOC100128554 NA12878,NA12891,NA12892,NA19239,NA19240 nsv899602 12 125522933 125648161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575466 S 6533 0 1 LOC100128554 IS33747 nsv899603 12 125549654 125589661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506758 S 6533 0 1 "" SP54402 nsv925 12 125552167 125574457 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6539 S 9 0 1 "" NA12156 esv22816 12 125557317 125579352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11849,esv9877 M 451 0 2 "" NA07045,NA12156 nsv514651 12 125561656 125570368 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628167 S 1414 0 1 "" nsv455743 12 125562394 125570757 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533233 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 dgv1503n71 12 125564137 125648161 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899604,nsv899605 M 6533 0 7 "" IS30146,IS33669,IS36640,IS40657,IS40890,MS20440,MS20850 nsv442657 12 125566291 125570543 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1004084 12 125571041 125571122 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578755 S 3 0 1 "" HuRef esv1583493 12 125571043 125571125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083034 S 2 0 1 "" HuRef nsv899606 12 125612468 125648161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601124,nssv1581506 M 6533 0 2 "" IS35605,IS41971 nsv820750 12 125633532 125635387 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421025 S 1 0 1 "" NA10851 esv23513 12 125633657 125634985 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10161 S 451 14 0 "" NA12489,NA12749,NA18508,NA18517,NA18523,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 esv1345580 12 125633911 125634052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029542 S 2 0 1 "" HuRef esv269160 12 125673195 125673407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510128,essv2496661,essv2500216,essv2499458,essv2502885,essv2495379,essv2495902,essv2493357,essv2504163,essv2493574,essv2506136,essv2509992,essv2498437,essv2505692,essv2503508,essv2502464,essv2512299,essv2493112,essv2500537,essv2502721,essv2506508,essv2509413,essv2499726 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11894,NA12006,NA12044,NA12156,NA12287,NA12489,NA12776,NA18505,NA18517,NA18523,NA18593,NA18858,NA18861,NA18947,NA18948,NA18949,NA18951,NA18956,NA18965,NA19108,NA19129,NA19225 esv1008730 12 125765905 125766243 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573988 S 3 0 1 "" HuRef esv1617705 12 125765916 125766255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161741 S 2 0 1 "" HuRef esv2187319 12 125778878 125779276 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865031 S 1 0 1 "" NA18507 esv4031 12 125778883 125779417 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26472 S 1 0 1 Single Asian sample YH "" YH esv1360833 12 125779082 125779246 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065339 S 2 0 1 "" HuRef nsv899607 12 125806109 126049382 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580526 S 6533 1 0 LOC387895,LOC440117 IS35358 nsv455744 12 125860879 125911942 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533234 S 1557 0 1 "" 1788485381_A nsv832542 12 125862922 126017694 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450070,nssv1450069,nssv1450071 M 95 1 2 LOC440117 nsv509487 12 125867294 125922817 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619619,nssv623636,nssv620981 M 4 3 0 LOC440117 NA10860,NA15510,NA18994 nsv926 12 125870035 125903869 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1127,nssv5459,nssv2896 M 9 3 0 "" NA18555,NA19129,NA19240 esv9454 12 125873439 125873532 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31895 S 1 1 0 "" SJK nsv517539 12 125875006 125883448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652305,nssv652817,nssv690390,nssv687043,nssv659521,nssv683001,nssv676294,nssv702870,nssv690754,nssv656202,nssv690192,nssv661293,nssv669549 M 2026 0 13 "" nsv507681 12 125885181 125891181 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617848 S 4 1 0 "" CHM nsv9007 12 125893478 126155396 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20854,nssv20546 M 31 0 2 Samples from several populations that are part of the HapMap project. LOC440117 NA10839,NA19007 nsv455745 12 125946197 126033079 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533235 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00608 nsv470324 12 125947966 126033079 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546992 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00608 dgv102n21 12 125972357 125980740 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516861,nsv518440 M 2026 0 3 "" esv2472858 12 125978865 125979440 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162057 S 1 1 0 "" NA18507 nsv832543 12 126038386 126195931 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450074 S 95 1 0 "" nsv521215 12 126049698 126059472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697849 S 2026 0 1 "" nsv455746 12 126049698 126075474 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533236 S 1557 0 1 "" NINDS_167 esv28763 12 126053714 126061124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17737 S 451 0 3 "" NA12749,NA18861,NA18916 nsv455747 12 126054389 126059472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533237 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01074 esv2422157 12 126054389 126059632 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5042451,essv5072816,essv5018404,essv5034091,essv5099570,essv5159947,essv5075704,essv5063583,essv5139945,essv5075296,essv5060784,essv5142069,essv5149820,essv5009299,essv5006167,essv5133994,essv5121711,essv5108455,essv5033125,essv5018811,essv5121885,essv5103295,essv5045071 M 1184 0 23 "" NA12749,NA18861,NA18916,NA19095,NA19107,NA19176,NA19197,NA19213,NA19360,NA19398,NA20126,NA20128,NA20281,NA20290,NA21353,NA21360,NA21361,NA21379,NA21485,NA21487,NA21509,NA21723,NA21741 nsv517707 12 126054389 126074584 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691349,nssv687489,nssv659218,nssv659327,nssv660450,nssv652194,nssv675809,nssv680738,nssv665968,nssv663236,nssv672415,nssv681420,nssv667264,nssv684751,nssv686636,nssv668006,nssv654263,nssv661531,nssv668380,nssv662449,nssv655684,nssv681778,nssv668303,nssv669170,nssv661829,nssv689064,nssv665490,nssv659978,nssv670306,nssv689602,nssv658009,nssv668263,nssv682536,nssv680141,nssv690475,nssv653592,nssv690773,nssv682395,nssv676681,nssv654221,nssv657657,nssv679710 M 2026 0 42 "" esv2865 12 126068559 126068937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25306 S 1 0 1 Single Asian sample YH "" YH esv1473064 12 126068590 126068818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178944 S 2 0 1 "" HuRef nsv899608 12 126075474 126136843 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580527 S 6533 1 0 "" IS35358 nsv832544 12 126075792 126236653 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450075 S 95 0 1 "" nsv522129 12 126097348 126109045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694134 S 2026 0 1 "" nsv515981 12 126109045 126160067 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660211,nssv691733,nssv659049,nssv679138,nssv657837,nssv654565,nssv661139,nssv659354,nssv676633,nssv655803,nssv668264,nssv665578 M 2026 0 12 "" esv2421339 12 126141646 126151541 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5157881,essv5083114,essv5006378,essv5140093,essv5128074,essv5082599,essv5082918,essv5006337,essv5065531,essv5053357,essv5069355,essv5013340,essv5038057,essv5131996,essv5083760,essv5137168,essv5077020,essv5039661,essv5161097,essv5069341,essv5010315,essv5053134,essv5045967,essv5105453,essv5039702,essv5119490,essv5097106,essv5131165,essv5116418,essv5074576,essv5004900,essv5037410,essv5108577,essv5139493,essv5065717,essv5120269,essv5074150,essv5009361,essv5061039,essv5081013,essv5034127,essv5158268,essv5096637,essv5154046,essv5103211,essv5153157,essv5101105,essv5142309,essv5090306,essv5117003,essv5032955,essv5148189,essv5094968,essv5027809,essv5014062,essv5086194,essv5002902,essv5032176,essv5120884,essv5028812,essv5054101,essv5002795,essv5073404,essv5103654,essv5113664,essv5040732,essv5122013,essv5093253,essv5138175,essv5074560,essv5042274,essv5002485,essv5081846,essv5142199,essv5115760,essv5017437,essv5081325,essv5088664,essv5060876,essv5018749,essv5081551,essv5070364,essv5086293,essv5145578,essv5047421,essv5063176,essv5070502,essv5046852,essv5015685,essv5155704,essv5129232,essv5050910,essv5071872,essv5105095,essv5075774,essv5140520,essv5119035,essv5078623,essv5053925,essv5037189,essv5110830,essv5008111,essv5102584,essv5092499,essv5057570,essv5123203,essv5137590,essv5103102,essv5129001,essv5077429,essv5089164,essv5050812,essv5040178,essv5031764,essv5119912,essv5030449,essv5098066,essv5095483,essv5084678,essv5010238,essv5063257,essv5097122,essv5017678,essv5038660 M 1184 0 124 "" NA17977,NA17987,NA17989,NA17997,NA17999,NA18102,NA18108,NA18112,NA18117,NA18129,NA18131,NA18132,NA18135,NA18139,NA18140,NA18150,NA18151,NA18159,NA18166,NA18524,NA18529,NA18532,NA18542,NA18548,NA18558,NA18559,NA18561,NA18566,NA18572,NA18576,NA18577,NA18592,NA18593,NA18594,NA18596,NA18599,NA18603,NA18605,NA18609,NA18610,NA18616,NA18618,NA18619,NA18627,NA18631,NA18634,NA18637,NA18643,NA18670,NA18694,NA18745,NA18747,NA18748,NA18749,NA18939,NA18942,NA18945,NA18946,NA18947,NA18953,NA18954,NA18955,NA18959,NA18960,NA18961,NA18962,NA18966,NA18968,NA18971,NA18975,NA18976,NA18978,NA18991,NA18998,NA18999,NA19000,NA19007,NA19054,NA19055,NA19056,NA19058,NA19059,NA19060,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19078,NA19079,NA19081,NA19084,NA19085,NA19087,NA19309,NA19327,NA19347,NA19437,NA19751,NA19835,NA19836,NA20509,NA20818,NA20828,NA20898,NA20899,NA21094,NA21105,NA21125,NA21316,NA21317,NA21454,NA21455,NA21519,NA21578,NA21580,NA21596,NA21722,NA21738,NA21740 nsv442658 12 126141646 126151541 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv826539 12 126150931 126151517 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429040,nssv1435541,nssv1436967,nssv1429483,nssv1426066,nssv1436129,nssv1427783,nssv1435366,nssv1423707,nssv1426990 M 31 0 10 "" AK4,AK6,AK8,NA18542,NA18566,NA18592,NA18942,NA18947,NA18968,NA18999 nsv437774 12 126150970 126170567 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467655 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 nsv818932 12 126151300 126153601 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417687 S 112 0 1 "" NA18999 nsv514652 12 126158608 126170000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628168 S 1414 0 1 "" esv2421505 12 126158640 126170328 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060479,essv5029284,essv5018684,essv5108688,essv5072135,essv5027791,essv5069656,essv5104769,essv5093510,essv5116855,essv5006642,essv5104566,essv5051393,essv5103034,essv5123322,essv5031495,essv5160154,essv5098259,essv5057604,essv5008186,essv5112377,essv5130943,essv5101176 M 1184 0 23 "" NA18498,NA18500,NA18501,NA18873,NA18875,NA19171,NA19373,NA19777,NA21367,NA21371,NA21378,NA21379,NA21424,NA21425,NA21448,NA21453,NA21479,NA21480,NA21491,NA21493,NA21494,NA21719,NA21825 nsv442295 12 126158640 126170328 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438240 12 126160067 126164235 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470557,nssv470556 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501 nsv899609 12 126165117 126310892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580528 S 6533 1 0 "" IS35358 nsv511023 12 126171942 126224956 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624340 S 4 0 0 "" NA18994 esv22625 12 126174073 126175836 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16749 S 451 1 0 "" NA15510 nsv927 12 126184474 126213875 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10911,nssv2019,nssv9978,nssv1128,nssv6540,nssv5461 M 9 6 0 "" NA12156,NA15510,NA18555,NA18956,NA19129,NA19240 nsv88 12 126195299 126208891 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv88 S 1 1 0 "" NA15510 esv1006871 12 126198962 126205782 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565536 S 3 1 0 "" HuRef esv2466194 12 126225744 126227368 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196801 S 1 0 1 "" NA18507 nsv512295 12 126225763 126228405 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624873 S 1 0 1 "" 1 esv2237811 12 126226196 126226911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615397 S 1 0 1 "" NA18507 esv5073 12 126226331 126226756 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27514 S 1 0 1 Single Asian sample YH "" YH nsv53568 12 126226380 126226705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72146 M 24 "" esv1001717 12 126226384 126226709 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573978 S 3 0 1 "" HuRef esv2563175 12 126226387 126226712 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262823 S 1 0 1 "" NA18507 esv1727922 12 126226395 126226721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268590 S 2 0 1 "" HuRef esv6574 12 126226398 126226716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29015 S 1 0 1 "" SJK nsv832545 12 126236662 126390315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450077,nssv1450076 M 95 2 0 "" nsv928 12 126249538 126284704 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1129 S 9 1 0 "" NA19240 esv2583660 12 126279848 126280658 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332577 S 1 1 0 "" NA18507 esv2650742 12 126297116 126298551 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326505 S 1 0 1 "" NA18507 nsv507682 12 126369609 126375609 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619094,nssv620524 M 4 2 0 "" NA10860,NA15510 nsv832546 12 126371490 126532441 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450078 S 95 1 0 "" esv23819 12 126376464 126377093 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11359 S 451 0 1 "" NA19099 nsv899610 12 126398545 126548821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597661 S 6533 0 1 "" IS41204 nsv826540 12 126406331 126407035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432361 S 31 1 0 "" AK20 nsv523135 12 126422640 126423834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698840 S 2026 0 1 "" nsv528793 12 126489743 126639758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705464 S 2026 0 1 "" esv272285 12 126509235 126509540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580799,essv2579384,essv2579404 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv272110 12 126509241 126509326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514003,essv2518932 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19239 nsv899611 12 126510643 126561600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529932 S 6533 0 1 "" MS10126 nsv899612 12 126510643 126598545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533916 S 6533 0 1 "" MS11332 esv2167891 12 126513050 126513451 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749660 S 1 0 1 "" NA18507 nsv513374 12 126530605 126531461 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625768 S 1 1 0 "" 1 esv2487412 12 126569293 126570759 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296753 S 1 0 1 "" NA18507 esv2105622 12 126569954 126570588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532488 S 1 0 1 "" NA18507 nsv513375 12 126595215 126596471 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625769 S 1 1 0 "" 1 esv2352857 12 126603741 126604447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698368 S 1 0 1 "" NA18507 esv4463 12 126603865 126604330 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26904 S 1 0 1 Single Asian sample YH "" YH esv994652 12 126603930 126604246 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567556 S 3 0 1 "" HuRef esv8470 12 126603951 126604245 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30911 S 1 0 1 "" SJK esv1206461 12 126621106 126621106 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994891 S 2 1 0 "" HuRef esv1969687 12 126746824 126747336 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905060 S 1 0 1 "" NA18507 esv2947 12 126746950 126747272 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25388 S 1 0 1 Single Asian sample YH "" YH nsv513376 12 126747682 126747761 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625770 S 1 1 0 "" 1 dgv1504n71 12 126804340 126831582 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899613,nsv899614 M 6533 2 0 "" MS14665,MS17321 nsv524310 12 126809861 126811528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700212 S 2026 0 1 "" nsv516688 12 126821313 126831582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673023,nssv662755,nssv670160 M 2026 0 3 "" nsv899615 12 126898003 126958313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569933 S 6533 0 1 FLJ37505 IS31757 esv27152 12 126904827 126909952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17738 S 451 0 1 "" NA12004 esv1345189 12 126957019 126957019 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4316594 S 2 1 0 "" HuRef nsv53491 12 126957020 126957020 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72069 M 24 "" nsv53607 12 126957043 126957043 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72185 M 24 "" nsv818934 12 126991688 126995596 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416789,nssv1416788 M 112 0 2 "" NA19159,NA19161 esv2578630 12 127091065 127091756 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237911 S 1 1 0 "" NA18507 nsv525984 12 127099565 127101114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702203 S 2026 0 1 "" esv1171397 12 127134760 127134760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203137 S 2 1 0 "" HuRef esv1662911 12 127135661 127135661 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107511 S 2 1 0 "" HuRef esv1717986 12 127135702 127135702 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262071 S 2 1 0 "" HuRef esv5713 12 127263996 127264081 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28154 S 1 1 0 "" SJK esv2574278 12 127291547 127293273 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194645 S 1 0 1 "" NA18507 nsv525640 12 127305148 127307157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701794 S 2026 0 1 "" nsv510325 12 127312929 127318929 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622222 S 4 0 1 TMEM132C NA10860 esv2064315 12 127336199 127336569 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846098 S 1 0 1 TMEM132C NA18507 esv1613955 12 127336283 127336283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764968 S 2 1 0 TMEM132C HuRef nsv437775 12 127353728 127388411 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467656 S 60 0 1 Samples from several populations that are part of the HapMap project. TMEM132C NA19161 esv24895 12 127355207 127356667 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19097 S 451 0 1 TMEM132C NA12828 nsv9008 12 127362444 127367558 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20808,nssv22168,nssv23153 M 31 3 0 Samples from several populations that are part of the HapMap project. TMEM132C NA18504,NA18564,NA19144 nsv438241 12 127363955 127372572 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470558,nssv470559 M 269 0 2 Samples from several populations that are part of the HapMap project. TMEM132C NA19160,NA19161 esv33712 12 127373650 127381167 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92557 S 51 1 0 TMEM132C 22233 esv22474 12 127377257 127377726 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16218 S 451 0 1 TMEM132C NA18508 nsv832547 12 127423427 127615014 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450079 S 95 1 0 TMEM132C nsv52720 12 127435979 127435979 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71298 M 24 TMEM132C nsv899616 12 127457295 127504943 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545074 S 6533 1 0 TMEM132C MS16643 esv4473 12 127498149 127498690 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26914 S 1 0 1 Single Asian sample YH TMEM132C YH nsv527302 12 127504943 127520771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703720 S 2026 0 1 TMEM132C nsv518258 12 127522367 127524878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695688 S 2026 0 1 TMEM132C esv2430199 12 127523468 127524243 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377903 S 1 1 0 TMEM132C NA18507 nsv513377 12 127523701 127524100 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625771 S 1 1 0 TMEM132C 1 esv2366910 12 127622553 127622976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4633496 S 1 0 1 TMEM132C NA18507 dgv532e1 12 127638258 127947263 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv37,essv19290,essv19513 M 271 0 0 GLT1D1,SLC15A4,TMEM132C NA10838,NA12864 esv28350 12 127696045 127699606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21117 S 451 0 2 TMEM132C NA12828,NA18909 nsv52909 12 127708491 127708601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71487 M 24 TMEM132C esv273642 12 127726856 127727056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584619,essv2583421 M 7 2 0 Samples from several populations that are part of the HapMap project. TMEM132C NA19239,NA19240 nsv470325 12 127729601 127775018 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546993 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM132C HGDP00451 nsv520287 12 127738642 127740628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662401,nssv692744,nssv673987,nssv677721 M 2026 0 4 TMEM132C nsv899617 12 127738642 127794683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552085 S 6533 0 1 TMEM132C MS19161 esv1452324 12 127748682 127748754 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625026 S 2 0 1 TMEM132C HuRef esv3504 12 127758429 127759347 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25945 S 1 0 1 Single Asian sample YH "" YH esv9303 12 127758604 127759248 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31744 S 1 0 1 "" SJK esv23196 12 127758677 127759417 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10592 S 451 0 1 "" NA12239 esv1517489 12 127759137 127759137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816230 S 2 1 0 "" HuRef esv2570416 12 127759233 127759992 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307023 S 1 1 0 "" NA18507 nsv455749 12 127775018 127832777 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533238 S 1557 1 0 "" NINDS_29 esv2751039 12 127788000 127835197 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983462,essv6986442 M 771 1 0 "" BEC_658 nsv832549 12 127789663 127987052 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450080 S 95 0 1 GLT1D1,SLC15A4 nsv523786 12 127792726 127800509 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699613 S 2026 0 1 "" dgv212n27 12 127792726 127832777 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455750,nsv455751 M 1557 2 0 "" HGDP00243,NINDS_238 nsv526547 12 127792726 127832777 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702861 S 2026 1 0 "" nsv522054 12 127794683 127797279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694824 S 2026 0 1 "" nsv818935 12 127794683 127798250 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416185 S 112 0 1 "" NA12891 nsv455754 12 127794827 127808862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533241 S 1557 0 1 "" 1782681112_A esv23626 12 127795825 127798963 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10241 S 451 0 1 "" NA12776 nsv9009 12 127795846 127799499 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21607 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 esv2751040 12 127796073 127809073 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982743,essv6982742 M 771 1 0 "" BEC_587 esv2421644 12 127796462 127798498 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5144612,essv5150749,essv5099759,essv5114500,essv5134442,essv5089577,essv5052352,essv5150306,essv5049252,essv5005592,essv5117583,essv5088973,essv5066659,essv5128288,essv5116076,essv5071500,essv5114008,essv5018007,essv5048140,essv5084381,essv5088507,essv5138477,essv5044378,essv5131382,essv5145697,essv5045865,essv5158544,essv5037111,essv5079962,essv5006430,essv5034491,essv5151508,essv5038106,essv5074599,essv5119303,essv5155228,essv5031728,essv5057928,essv5097886,essv5050071,essv5067128,essv5088939,essv5095013,essv5067491,essv5052746,essv5071410,essv5112740,essv5106474,essv5072736,essv5124151,essv5087930,essv5011864,essv5118368,essv5123894,essv5092812 M 1184 0 55 "" NA10845,NA10852,NA11830,NA11930,NA11992,NA12045,NA12344,NA12347,NA12348,NA12376,NA12546,NA12752,NA12760,NA12766,NA12776,NA12890,NA12891,NA17999,NA18143,NA18161,NA18622,NA18623,NA18631,NA19675,NA19677,NA19678,NA19680,NA19725,NA19904,NA20525,NA20530,NA20778,NA20815,NA20826,NA20847,NA20849,NA20859,NA20866,NA20876,NA20885,NA20887,NA20901,NA20908,NA21091,NA21094,NA21097,NA21103,NA21107,NA21109,NA21115,NA21142,NA21143,NA21362,NA21528,NA21587 nsv442296 12 127796462 127798498 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv455755 12 127796466 127798966 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533242 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01027 nsv517182 12 127796466 127800509 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692531,nssv687206,nssv653948,nssv661364,nssv691899,nssv684951,nssv671742,nssv690978,nssv655257,nssv678316,nssv673822,nssv684452,nssv678805,nssv702207,nssv668241,nssv692958,nssv661649,nssv671996,nssv684858,nssv652742,nssv673290,nssv664348,nssv668381,nssv678293,nssv654093,nssv658166,nssv669009,nssv686910 M 2026 0 28 "" nsv899618 12 127798966 127913844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589589 S 6533 1 0 GLT1D1,SLC15A4 IS38386 nsv899619 12 127804571 127875491 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578397 S 6533 1 0 SLC15A4 IS34769 esv1211804 12 127807561 127807561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928658 S 2 1 0 "" HuRef nsv9010 12 127816860 127818864 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23959 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 esv2573129 12 127864313 127865375 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230439 S 1 1 0 SLC15A4 NA18507 nsv53683 12 127864681 127864681 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72261 M 24 SLC15A4 esv998080 12 127864687 127864687 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584934 S 3 1 0 SLC15A4 HuRef nsv826541 12 127868474 127870454 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438395,nssv1439224,nssv1426992 M 31 0 3 SLC15A4 AK6,NA18951,NA18973 nsv899620 12 127872074 127992821 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525060 S 6533 1 0 GLT1D1,SLC15A4 SP55473 esv25524 12 127894902 127897606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14745 S 451 0 10 "" NA06985,NA11931,NA11993,NA12004,NA12044,NA12156,NA12749,NA12776,NA12828,NA15510 esv988537 12 127896263 127896535 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585482 S 3 0 1 "" HuRef nsv899621 12 127915070 128170488 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578398 S 6533 1 0 GLT1D1,TMEM132D IS34769 nsv521048 12 127946376 127954930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697753 S 2026 0 1 GLT1D1 esv23767 12 127952460 127955088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13708 S 451 0 3 GLT1D1 NA18861,NA18907,NA18909 nsv516077 12 127952571 127954930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677667,nssv687490,nssv662311,nssv668538,nssv666044,nssv656324,nssv686943,nssv659366,nssv682797,nssv679579,nssv671889,nssv685035,nssv684639,nssv695943,nssv655443,nssv679075,nssv673666,nssv659156,nssv691102,nssv667223,nssv680422,nssv666892 M 2026 0 22 GLT1D1 nsv818936 12 127952571 127954930 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417781,nssv1417783 M 112 0 2 GLT1D1 NA10863,NA12234 nsv899622 12 127961067 128746988 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570473 S 6533 1 0 GLT1D1,TMEM132D IS32079 nsv929 12 127962965 127991363 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2020 S 9 1 0 GLT1D1 NA18555 nsv899623 12 127993705 128025486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545075 S 6533 1 0 GLT1D1 MS16643 nsv899624 12 128013100 128141383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566238 S 6533 1 0 GLT1D1,TMEM132D IS30616 nsv826543 12 128015021 128018631 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434662 S 31 0 1 GLT1D1 NA18570 esv2204782 12 128019435 128019879 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546695 S 1 0 1 GLT1D1 NA18507 nsv526688 12 128021270 128081920 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703022 S 2026 1 0 GLT1D1 esv1369444 12 128055306 128055364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256240 S 2 0 1 "" HuRef nsv899625 12 128055540 128158487 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525061 S 6533 1 0 TMEM132D SP55473 esv1230510 12 128055867 128055867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733978 S 2 1 0 "" HuRef dgv213n27 12 128060864 128078815 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455760,nsv455761,nsv455758,nsv455759 M 1557 4 0 "" HGDP00607,HGDP00624,HGDP00643,HGDP00738 nsv470326 12 128065984 128078815 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546994,nssv546995 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00607,HGDP00643 nsv526263 12 128065984 128081920 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702535 S 2026 1 0 "" nsv53601 12 128085379 128085379 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72179 M 24 "" nsv53596 12 128085438 128085438 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72174 M 24 "" esv1011092 12 128095343 128112373 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564528 S 3 1 0 "" HuRef nsv525882 12 128096582 128105899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702082 S 2026 0 1 "" nsv930 12 128116202 128147182 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6541 S 9 0 1 TMEM132D NA12156 nsv899626 12 128117269 128134359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533646 S 6533 0 1 TMEM132D MS11249 nsv821223 12 128137197 128140291 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421026 S 1 0 1 TMEM132D NA10851 nsv512296 12 128138026 128140296 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624874 S 1 0 1 TMEM132D 1 esv2026523 12 128138173 128138822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960907 S 1 0 1 TMEM132D NA18507 esv28886 12 128138276 128140116 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20027,esv16009 M 451 15 11 TMEM132D NA07037,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA15510,NA18505,NA18508,NA18517,NA18861,NA18909,NA18916,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv5156 12 128138344 128140169 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27597 S 1 0 1 Single Asian sample YH TMEM132D YH esv1447000 12 128138679 128138679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870516 S 2 1 0 TMEM132D HuRef nsv517810 12 128141383 128216124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695215 S 2026 0 1 TMEM132D esv2643994 12 128149703 128151196 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302922 S 1 0 1 TMEM132D NA18507 esv1937281 12 128150106 128150717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834863 S 1 0 1 TMEM132D NA18507 nsv832550 12 128150230 128341746 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450081 S 95 0 1 TMEM132D nsv899627 12 128179205 128189379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505741 S 6533 0 1 TMEM132D SP53885 nsv899628 12 128189379 128250888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599334 S 6533 0 1 TMEM132D IS41581 esv990167 12 128206392 128207738 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586801 S 3 0 1 TMEM132D HuRef esv1035997 12 128216804 128216804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818255 S 2 1 0 TMEM132D HuRef nsv899629 12 128226450 128250888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531330 S 6533 0 1 TMEM132D MS10393 esv275507 12 128253593 128258467 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585204 S 1250 0 1 TMEM132D esv275449 12 128297492 128304875 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585369,essv2585183 M 1250 1 1 TMEM132D nsv528720 12 128300798 128304999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705371 S 2026 0 1 TMEM132D esv29089 12 128321711 128324816 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13172 S 451 0 2 TMEM132D NA18909,NA19099 esv1272347 12 128353654 128353654 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587727 S 2 1 0 TMEM132D HuRef esv2466603 12 128360745 128362140 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177041 S 1 0 1 TMEM132D NA18507 esv2080358 12 128361272 128361930 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935120 S 1 0 1 TMEM132D NA18507 esv4067 12 128361406 128361779 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26508 S 1 0 1 Single Asian sample YH TMEM132D YH esv9297 12 128361460 128361729 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31738 S 1 0 1 TMEM132D SJK esv2617454 12 128406256 128407957 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368588 S 1 0 1 TMEM132D NA18507 esv2387529 12 128406444 128407131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671143 S 1 0 1 TMEM132D NA18507 nsv53551 12 128406642 128406954 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72129 M 24 TMEM132D esv1537948 12 128406650 128406963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644484 S 2 0 1 TMEM132D HuRef esv28408 12 128436827 128440226 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16765,esv12126 M 451 2 3 TMEM132D NA11931,NA12239,NA12489,NA12828,NA18505 nsv826544 12 128437364 128440044 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436968 S 31 1 0 TMEM132D NA18542 esv2108752 12 128437503 128438009 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845973 S 1 0 1 TMEM132D NA18507 nsv512297 12 128437996 128440065 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624875 S 1 0 1 TMEM132D 1 esv2472744 12 128438134 128439926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308469 S 1 0 1 TMEM132D NA18507 nsv820410 12 128438172 128439706 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421027 S 1 0 1 TMEM132D NA10851 esv1094163 12 128438631 128438963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311903 S 2 0 1 TMEM132D HuRef esv2146269 12 128438661 128439229 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965272 S 1 0 1 TMEM132D NA18507 esv2352393 12 128439112 128439560 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675478 S 1 0 1 TMEM132D NA18507 nsv52627 12 128449873 128449873 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71205 M 24 TMEM132D esv1407768 12 128449922 128449922 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807814 S 2 1 0 TMEM132D HuRef esv2320601 12 128453136 128453531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591804 S 1 0 1 TMEM132D NA18507 nsv507683 12 128456255 128462255 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617849,nssv623128 M 4 2 0 TMEM132D CHM,NA18994 nsv518434 12 128458875 128459900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695870 S 2026 0 1 TMEM132D dgv1505n71 12 128500153 128517308 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899630,nsv899631 M 6533 0 2 TMEM132D MS10074,MS11934 esv9576 12 128502329 128502422 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32017 S 1 1 0 TMEM132D SJK essv11539 12 128512417 128699770 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. TMEM132D NA19173 dgv533e1 12 128512417 129681529 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5614,esv520,essv5728 M 271 0 0 FLJ31485,FZD10,LOC100190940,PIWIL1,RIMBP2,TMEM132D NA18593 nsv9011 12 128518134 128526780 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20995 S 31 0 1 Samples from several populations that are part of the HapMap project. TMEM132D NA18980 nsv53089 12 128530499 128530622 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71667 M 24 TMEM132D nsv931 12 128538561 128573629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1130 S 9 1 0 TMEM132D NA19240 esv34208 12 128578742 129654380 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990392,essv6979652,essv6979651,essv6986921,essv6986922 M 771 1 0 FLJ31485,FZD10,LOC100190940,PIWIL1,RIMBP2,TMEM132D NA18593 nsv818937 12 128578866 129296225 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417270 S 112 1 0 FLJ31485,FZD10,LOC100190940,TMEM132D NA18593 nsv933 12 128584273 128612004 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9979 S 9 1 0 TMEM132D NA18956 nsv436144 12 128624064 128630378 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466724 S 2 0 1 Samples from several populations that are part of the HapMap project. TMEM132D NA18505 nsv9012 12 128624095 128629747 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21509 S 31 0 1 Samples from several populations that are part of the HapMap project. TMEM132D NA19173 esv26145 12 128624327 128628217 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10315 S 451 0 2 TMEM132D NA18505,NA19114 esv2421700 12 128624510 128626094 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5034349,essv5017038,essv5101364,essv5152029,essv5075862,essv5159060,essv5046819,essv5074193,essv5019261,essv5129394,essv5086259,essv5104448,essv5095979,essv5047935,essv5016472,essv5154157 M 1184 0 16 TMEM132D NA18503,NA18505,NA18867,NA18869,NA18874,NA18910,NA19031,NA19114,NA19122,NA19123,NA19140,NA19172,NA19173,NA19435,NA20127,NA21529 nsv442297 12 128624510 128626094 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMEM132D nsv517682 12 128625105 128628185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673782,nssv679421,nssv652834,nssv676733,nssv668662,nssv661400 M 2026 0 6 TMEM132D esv2653252 12 128625641 128627337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258729 S 1 0 1 TMEM132D NA18507 esv2208288 12 128626051 128626762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659749 S 1 0 1 TMEM132D NA18507 esv3662 12 128626225 128626735 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26103 S 1 0 1 Single Asian sample YH TMEM132D YH esv7244 12 128626251 128626571 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29685 S 1 0 1 TMEM132D SJK nsv53131 12 128626257 128626587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71709 M 24 TMEM132D nsv9013 12 128642414 128644494 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19312,nssv23311,nssv24500,nssv23181,nssv21227,nssv20690,nssv20576 M 31 0 7 Samples from several populations that are part of the HapMap project. TMEM132D NA18504,NA18563,NA18853,NA18860,NA18942,NA19007,NA19240 esv24214 12 128642856 128643542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19739 S 451 0 1 TMEM132D NA18505 esv2538595 12 128688422 128690118 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192837 S 1 0 1 TMEM132D NA18507 esv2145629 12 128688811 128689289 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000444 S 1 0 1 TMEM132D NA18507 esv3125 12 128688936 128689243 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25566 S 1 0 1 Single Asian sample YH TMEM132D YH nsv934 12 128689252 128722871 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5462 S 9 1 0 TMEM132D NA19129 nsv9015 12 128715586 128722530 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21025 S 31 0 1 Samples from several populations that are part of the HapMap project. TMEM132D NA18980 nsv832551 12 128771969 128978028 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450083,nssv1450089,nssv1450087,nssv1450082,nssv1450085,nssv1450086,nssv1450088 M 95 0 7 TMEM132D esv1161203 12 128797693 128797693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230029 S 2 1 0 TMEM132D HuRef nsv53735 12 128797703 128797703 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72313 M 24 TMEM132D esv2331492 12 128849027 128849474 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854001 S 1 0 1 TMEM132D NA18507 esv996554 12 128849201 128849252 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579084 S 3 0 1 TMEM132D HuRef esv1397992 12 128849246 128849298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945430 S 2 0 1 TMEM132D HuRef nsv9016 12 128860652 128864499 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20838 S 31 0 1 Samples from several populations that are part of the HapMap project. TMEM132D NA18564 esv27708 12 128861249 128864395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18148 S 451 0 2 TMEM132D NA19190,NA19257 nsv826545 12 128861429 128864270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431577,nssv1422111,nssv1440600,nssv1426993,nssv1436969 M 31 0 5 TMEM132D AK18,AK6,NA18542,NA18564,NA18997 nsv935 12 128904811 128949779 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5463 S 9 0 1 TMEM132D NA19129 nsv9017 12 128905011 128912997 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18821,nssv19069,nssv22198,nssv19712,nssv20806,nssv21539 M 31 0 6 Samples from several populations that are part of the HapMap project. TMEM132D NA07029,NA12872,NA18552,NA18572,NA19144,NA19173 esv28732 12 128905073 128909727 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20611 S 451 0 19 TMEM132D NA07037,NA11931,NA11995,NA12006,NA12044,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18858,NA18907,NA18916,NA19099,NA19114,NA19240,NA19257 esv991412 12 128905153 128909607 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586429 S 3 0 1 TMEM132D HuRef esv1008687 12 128905577 128909623 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565361 S 3 0 1 TMEM132D HuRef nsv820908 12 128905600 128909983 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421028 S 1 0 1 TMEM132D NA10851 esv1675208 12 128906395 128909421 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821743 S 2 0 1 TMEM132D HuRef esv992696 12 128949613 128949926 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568712 S 3 0 1 TMEM132D HuRef nsv9018 12 128960122 128968235 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26146 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv3759 12 128975111 128975383 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26200 S 1 0 1 Single Asian sample YH "" YH esv994110 12 128975169 128975278 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581870 S 3 0 1 "" HuRef nsv9019 12 128985897 128988380 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20606,nssv20154 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18975,NA19007 esv274148 12 129020961 129021249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580761 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271199 12 129020976 129021309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514657,essv2516677,essv2517033,essv2515283,essv2515164,essv2516429,essv2515755,essv2518157,essv2514423,essv2516166,essv2516884,essv2517312,essv2515226,essv2518222,essv2519360,essv2513656 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA11931,NA12249,NA12812,NA12814,NA12815,NA12872,NA12874,NA12891,NA12892,NA18970,NA19238,NA19240 esv2406388 12 129054967 129055404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726212 S 1 0 1 "" NA18507 esv1002320 12 129061152 129061152 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582875 S 3 1 0 "" HuRef esv1354847 12 129061241 129061241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763522 S 2 1 0 "" HuRef esv1008791 12 129065292 129075161 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565538 S 3 0 1 "" HuRef nsv899632 12 129081369 129125786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545076 S 6533 1 0 LOC100190940 MS16643 nsv819826 12 129083972 129086859 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419491 S 2 1 0 LOC100190940 AK1 esv2048649 12 129084063 129084494 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4642811 S 1 0 1 LOC100190940 NA18507 esv2366960 12 129093241 129093570 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568225 S 1 0 1 "" NA18507 nsv520701 12 129114796 129116486 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689090,nssv674332 M 2026 0 2 "" esv2174598 12 129141154 129141650 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507007 S 1 0 1 "" NA18507 nsv832552 12 129156563 129324413 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450090 S 95 1 0 FLJ31485,FZD10 dgv214n27 12 129164609 129196262 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455764,nsv455762 M 1557 0 2 "" HGDP00894,HGDP00995 nsv9020 12 129173905 129186943 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26165 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv826546 12 129204936 129218521 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426994 S 31 1 0 FLJ31485,FZD10 AK6 esv1564565 12 129242533 129242533 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241346 S 2 1 0 "" HuRef nsv515621 12 129275330 129279906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687577,nssv691900,nssv664138 M 2026 0 3 "" esv1727500 12 129308725 129308784 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158495 S 2 0 1 "" HuRef nsv9021 12 129329404 129332558 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23339 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv29038 12 129388342 129391818 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13918 S 451 0 1 PIWIL1 NA18858 nsv455765 12 129391808 129450300 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533250 S 1557 1 0 PIWIL1,RIMBP2 1780854341_A nsv469863 12 129400516 129605295 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649884 M 265 0 0 Samples from several populations that are part of the HapMap project. PIWIL1,RIMBP2 nsv936 12 129417091 129445428 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5464 S 9 1 0 PIWIL1 NA19129 nsv509488 12 129428503 129447001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623637,nssv618097,nssv619620 M 4 3 0 RIMBP2 CHM,NA10860,NA18994 esv26511 12 129429863 129431078 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18550 S 451 0 9 "" NA12489,NA12828,NA18505,NA18517,NA18909,NA19114,NA19147,NA19190,NA19257 esv1564098 12 129430581 129430669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127455 S 2 0 1 "" HuRef nsv818938 12 129432804 129477169 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417271 S 112 1 0 RIMBP2 NA18593 esv270204 12 129435236 129435602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494132,essv2504045,essv2509023,essv2510445 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18522,NA19172 nsv9022 12 129436081 129444694 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24186,nssv21608,nssv26214,nssv21569,nssv21055,nssv24016,nssv24058,nssv20184,nssv19772,nssv20836 M 31 6 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA12155,NA18502,NA18552,NA18972,NA18975,NA18980,NA19132,NA19173,NA19221 esv24721 12 129442569 129444034 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19441 S 451 1 3 "" NA11993,NA12156,NA18916,NA19240 esv1487314 12 129442693 129442693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812341 S 2 1 0 "" HuRef esv1235720 12 129443011 129443011 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056086 S 2 1 0 "" HuRef esv1313136 12 129443176 129443176 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286273 S 2 1 0 "" HuRef esv1112657 12 129443210 129443210 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656961 S 2 1 0 "" HuRef esv1768030 12 129443440 129443440 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613886 S 2 1 0 "" HuRef esv269488 12 129447568 129447653 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515075 S 157 1 0 Samples from several populations that are part of the HapMap project. RIMBP2 NA12812 nsv509489 12 129463567 129544205 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623638 S 4 1 0 RIMBP2 NA18994 nsv937 12 129469054 129494957 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9980 S 9 1 0 RIMBP2 NA18956 nsv832553 12 129470978 129660158 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450091,nssv1450092,nssv1450093 M 95 0 3 RIMBP2 nsv899633 12 129473975 129518162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530760 S 6533 0 1 RIMBP2 MS10311 nsv455766 12 129486649 129518407 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533251 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RIMBP2 HGDP00372 esv24042 12 129533243 129533738 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14808 S 451 1 0 RIMBP2 NA19257 esv1253470 12 129533664 129533664 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015266 S 2 1 0 RIMBP2 HuRef nsv818939 12 129539038 129653424 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417273 S 112 1 0 RIMBP2 NA18593 nsv523185 12 129567421 129575565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698899 S 2026 0 1 RIMBP2 esv1533119 12 129582466 129583150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770943 S 2 0 1 "" HuRef esv22541 12 129590029 129590539 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17554 S 451 0 1 "" NA12006 esv3769 12 129614481 129614876 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26210 S 1 0 1 Single Asian sample YH "" YH esv1000392 12 129614549 129614662 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584188 S 3 0 1 "" HuRef esv1710243 12 129614559 129614673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854224 S 2 0 1 "" HuRef esv1324157 12 129635284 129635284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361664 S 2 1 0 "" HuRef nsv509490 12 129676136 129701327 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623639 S 4 1 0 "" NA18994 nsv53644 12 129677080 129677154 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72222 M 24 "" nsv938 12 129687121 129718560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9845,nssv6543,nssv4058 M 9 3 0 "" NA12156,NA12878,NA18507 esv991693 12 129691789 129691789 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573811 S 3 1 0 "" HuRef nsv53218 12 129691943 129692036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71796 M 24 "" esv2552055 12 129695903 129697473 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164474 S 1 0 1 "" NA18507 esv2088493 12 129696455 129697011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604379 S 1 0 1 "" NA18507 esv997179 12 129696581 129697701 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563899 S 3 0 1 "" HuRef esv28575 12 129696592 129697352 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19388 S 451 1 0 "" NA12239 esv1396935 12 129696646 129696922 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706056 S 2 0 1 "" HuRef nsv899634 12 129697139 129730586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546826 S 6533 0 1 "" MS17208 esv29918 12 129697397 129699905 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16901 S 451 0 4 "" NA11993,NA12239,NA12287,NA19225 dgv35e180 12 129697933 129699905 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997675,esv990435 M 3 0 1 "" HuRef nsv826547 12 129698368 129700078 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433932 S 31 0 1 "" NA18526 esv33084 12 129698650 129699679 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95089,essv95283,essv92758,essv96319,essv94171 M 51 0 5 "" 21721,21872,21944,22371,22394 nsv899635 12 129702553 129731918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545077 S 6533 1 0 "" MS16643 nsv899636 12 129706641 129740913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530761 S 6533 0 1 "" MS10311 esv988445 12 129708144 129708217 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584099 S 3 0 1 "" HuRef esv1746675 12 129710823 129710823 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148869 S 2 1 0 "" HuRef nsv53842 12 129710824 129710824 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72420 M 24 "" nsv437776 12 129712937 129725092 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467657 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 esv28672 12 129713903 129716213 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11038 S 451 0 1 "" NA19129 esv2421973 12 129713910 129716322 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5030086,essv5097261,essv5087302,essv5075597,essv5066675,essv5108730,essv5125775,essv5064837,essv5118659,essv5132520,essv5022994,essv5036820,essv5065424,essv5001914,essv5073740,essv5046447,essv5054678,essv5045573,essv5105489,essv5005000,essv5134268,essv5028267,essv5113645,essv5149671,essv5057221,essv5076426,essv5090065,essv5017217,essv5010285,essv5135845,essv5078714,essv5043470,essv5039499,essv5025090,essv5138415,essv5051010,essv5116951,essv5074675,essv5147513,essv5130790 M 1184 0 40 "" NA18487,NA18498,NA18515,NA18516,NA18518,NA18519,NA18852,NA18854,NA18874,NA18875,NA18917,NA18930,NA19027,NA19035,NA19128,NA19129,NA19131,NA19185,NA19203,NA19207,NA19247,NA19316,NA19318,NA19385,NA19394,NA19397,NA19434,NA19444,NA19448,NA19462,NA19712,NA19747,NA19901,NA19904,NA20317,NA20319,NA20322,NA21359,NA21435,NA21574 nsv438242 12 129713954 129716063 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470561,nssv470560 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19203,NA19205 nsv442659 12 129714262 129716322 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1255255 12 129714953 129714953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335489 S 2 1 0 "" HuRef nsv528135 12 129733789 129735731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704680 S 2026 0 1 "" nsv515679 12 129782704 129784804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662729,nssv693327,nssv669061,nssv679371,nssv664377,nssv664349,nssv673843,nssv656431 M 2026 0 8 "" esv26832 12 129798925 129799700 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14010 S 451 0 1 "" NA12414 esv29083 12 129801970 129811039 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16924,esv13860 M 451 0 2 "" NA19114,NA19257 esv2507862 12 129808899 129810505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233887 S 1 0 1 "" NA18507 esv3621 12 129832393 129832761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26062 S 1 0 1 Single Asian sample YH "" YH esv22261 12 129832498 129833128 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14560 S 451 0 1 "" NA19190 esv1504445 12 129832970 129832970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226894 S 2 1 0 "" HuRef esv1591605 12 129832978 129832978 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690299 S 2 1 0 "" HuRef esv1253904 12 129833003 129833003 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110715 S 2 1 0 "" HuRef nsv939 12 129837198 129872074 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1131 S 9 1 0 STX2 NA19240 nsv527536 12 129880167 129896126 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703996 S 2026 0 1 STX2 esv1728224 12 129893872 129893925 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748598 S 2 0 1 "" HuRef esv2232925 12 129901032 129901504 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578784 S 1 0 1 "" NA18507 esv2643379 12 129932169 129933787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235953 S 1 0 1 "" NA18507 nsv821378 12 129932656 129933406 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421029 S 1 0 1 "" NA10851 esv8813 12 129932667 129933309 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31254 S 1 0 1 "" SJK esv27620 12 129932691 129933406 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19155 S 451 29 0 "" NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv455767 12 129945267 129999137 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533252 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863 nsv899637 12 129946426 130029977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502293 S 6533 1 0 GPR133 SP50940 nsv53443 12 129955210 129955293 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72021 M 24 "" nsv470327 12 129971506 129999853 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546996 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863 nsv524291 12 129989304 129994218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700191 S 2026 0 1 "" esv1646829 12 129990187 129990187 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292153 S 2 1 0 "" HuRef dgv1506n71 12 129997332 130024203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899638,nsv899639 M 6533 0 2 GPR133 MS17193,MS18192 nsv899640 12 130004170 130151491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530762 S 6533 0 1 GPR133 MS10311 nsv519628 12 130005397 130009489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679372,nssv657232,nssv662292,nssv694210,nssv704891 M 2026 0 5 GPR133 esv24428 12 130020718 130021184 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15574 S 451 3 0 GPR133 NA18505,NA18858,NA19225 esv1356063 12 130047218 130047521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651415 S 2 0 1 GPR133 HuRef nsv899641 12 130053994 130105613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543628 S 6533 0 1 GPR133 MS16153 nsv517271 12 130053994 130432243 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682589,nssv686673,nssv664230,nssv678469,nssv658207,nssv669995,nssv663067,nssv691721,nssv673667,nssv676231,nssv657412,nssv654689,nssv666204,nssv682514,nssv684193,nssv651771,nssv654172,nssv695689,nssv690560,nssv683257,nssv674585,nssv692914,nssv690812,nssv662354,nssv684298,nssv684613,nssv686548,nssv658143,nssv671467,nssv687319,nssv677891,nssv680764,nssv675208,nssv659494,nssv654439,nssv679977,nssv675292,nssv684269,nssv677981,nssv689967,nssv660451,nssv670383 M 2026 3 39 GPR133,LOC116437 esv23678 12 130069064 130072144 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14317 S 451 1 0 GPR133 NA12239 nsv899642 12 130072973 130164537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501218 S 6533 1 0 GPR133 SP50940 nsv819999 12 130074586 130077088 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419439 S 2 1 0 GPR133 AK1 nsv899643 12 130078947 130160516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546827 S 6533 0 1 GPR133 MS17208 esv1092985 12 130080378 130080378 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807654 S 2 1 0 GPR133 HuRef esv990308 12 130083221 130083486 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569747 S 3 0 1 GPR133 HuRef esv1383526 12 130083254 130083520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929528 S 2 0 1 GPR133 HuRef esv1249867 12 130088142 130088329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268785 S 2 0 1 GPR133 HuRef esv24528 12 130096392 130097612 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20297 S 451 0 2 GPR133 NA12044,NA19240 nsv820623 12 130096392 130097612 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421030 S 1 1 0 GPR133 NA10851 esv991215 12 130118165 130118284 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582831 S 3 0 1 GPR133 HuRef esv1323340 12 130118274 130118394 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300870 S 2 0 1 GPR133 HuRef nsv899644 12 130130136 130162452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532467 S 6533 0 1 GPR133 MS10769 nsv940 12 130134088 130167440 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1132 S 9 1 0 GPR133 NA19240 esv27579 12 130141325 130141891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11380 S 451 0 1 GPR133 NA11894 esv1006538 12 130148631 130148631 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576240 S 3 1 0 GPR133 HuRef esv1370689 12 130148651 130148651 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602371 S 2 1 0 GPR133 HuRef esv1279743 12 130157839 130157839 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645369 S 2 1 0 GPR133 HuRef dgv9e196 12 130163590 130242732 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422313,esv2422207 M 181 0 2 GPR133,LOC116437 ND01493,ND01570 esv1004799 12 130179435 130179526 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566941 S 3 0 1 GPR133 HuRef nsv899645 12 130183588 130228171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500989 S 6533 1 0 GPR133,LOC116437 SP50940 nsv899646 12 130217937 130295422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554688 S 6533 1 0 LOC116437 MS20888 dgv1507n71 12 130252840 130283553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899649,nsv899647 M 6533 0 3 LOC116437 MS10311,MS16153,MS17208 nsv899648 12 130252840 130403434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538673 S 6533 0 1 LOC116437 MS13770 nsv442298 12 130254437 130289269 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC116437 nsv899650 12 130260218 130294008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502166 S 6533 1 0 LOC116437 SP50940 nsv470328 12 130261458 130341671 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546999,nssv546997 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC116437 HGDP00944,HGDP00991 nsv899651 12 130269473 130285538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585959 S 6533 0 1 "" IS37646 nsv899652 12 130275751 130349880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529859 S 6533 0 1 "" MS10123 nsv899653 12 130277231 130299179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534733 S 6533 0 1 "" MS11726 nsv832554 12 130280502 130501073 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450096,nssv1450094 M 95 0 2 "" nsv455768 12 130281795 130340992 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533253 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00991 esv1008920 12 130285749 130285824 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573187 S 3 0 1 "" HuRef esv1260165 12 130285817 130285893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918182 S 2 0 1 "" HuRef dgv534e1 12 130289244 130394258 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19310,essv19365 M 271 0 0 "" NA07019,NA07022 dgv535e1 12 130289244 130834847 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv722,essv7079,essv4942 M 271 0 0 SFSWAP NA18537 esv991875 12 130291776 130397272 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564896 S 3 0 1 "" HuRef nsv437157 12 130293338 130343613 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467038 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07019 dgv72e55 12 130293338 130405525 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751041,esv34527 M 771 0 2 "" BEC_383,NA07022 nsv470329 12 130293769 130380887 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547003,nssv547000,nssv547001,nssv547002,nssv547005,nssv547004 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00060,HGDP00622,HGDP00647,HGDP01253,HGDP01267,HGDP01269 dgv1508n71 12 130294704 130362098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899654,nsv899658 M 6533 0 2 "" IS33073,MS17208 dgv1509n71 12 130294704 130395261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899655,nsv899656 M 6533 0 2 "" IS34443,MS13019 esv2422165 12 130295422 130362400 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5020441,essv5055098,essv5004562,essv5085939,essv5052343,essv5150036,essv5136520,essv5101484,essv5124129,essv5042785,essv5113089,essv5115280 M 1184 0 12 "" NA07022,NA19750,NA19751,NA19760,NA19761,NA19763,NA19777,NA19778,NA20300,NA20509,NA20754,NA20785 dgv36e180 12 130296092 130391935 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1005842,esv1000421 M 3 0 1 "" HuRef dgv215n27 12 130296270 130314013 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455771,nsv455770,nsv455772 M 1557 0 3 "" 1780862435_A,HGDP00060,NINDS_242 dgv216n27 12 130296270 130340992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455776,nsv455773,nsv455778,nsv455779,nsv455792,nsv455795,nsv455777,nsv455793,nsv455791 M 1557 0 9 "" 1780862312_A,1782681095_A,HGDP00637,HGDP00647,HGDP01074,HGDP01077,HGDP01267,HGDP01269,NINDS_236 nsv438243 12 130296270 130341671 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470562,nssv470564 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07019,NA07022 dgv217n27 12 130296270 130396285 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455781,nsv455790,nsv455782,nsv455783,nsv455794,nsv455780 M 1557 0 6 "" 1782681023_A,HGDP00622,HGDP00731,HGDP01076,HGDP01253,NINDS_82 esv1003885 12 130296280 130318524 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586474 S 3 0 1 "" HuRef esv32837 12 130297056 130385330 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99125,essv92766,essv94197 M 51 1 2 "" 21938,21944,22394 nsv9023 12 130298566 130301176 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21637,nssv18851,nssv20636,nssv19129,nssv20884,nssv19025 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA12872,NA18572,NA19007 nsv899657 12 130302766 130343129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549844 S 6533 0 1 "" MS18276 nsv469686 12 130310592 130471818 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649617 M 265 0 2 Samples from several populations that are part of the HapMap project. "" nsv469651 12 130310594 130478577 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649579 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv471672 12 130310595 130478577 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549895 S 48 1 0 "" NA10969 nsv899659 12 130323116 130409109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554689 S 6533 1 0 "" MS20888 nsv9024 12 130323422 130325115 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20914 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 esv23530 12 130328721 130329216 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18246 S 451 1 0 "" NA12828 esv34554 12 130335118 130858300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979365,essv6979364,essv6979363,essv6979362,essv6979361,essv6986842 M 771 1 0 SFSWAP NA18537 nsv9026 12 130340741 130343221 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24043 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv436697 12 130346180 130718137 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466725 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv899660 12 130349880 130390749 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598302,nssv1533338,nssv1540810,nssv1565910 M 6533 3 1 "" IS30537,IS41068,MS11105,MS15036 dgv1510n71 12 130349880 130395261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899661,nsv899662 M 6533 0 4 "" MS16917,MS21100,SP53894,SP54798 nsv9027 12 130356162 130362558 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26233,nssv24085,nssv21115,nssv20214,nssv20944,nssv19802,nssv21667,nssv23209,nssv20720 M 31 8 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA11830,NA18504,NA18853,NA18975,NA18980,NA19132,NA19221 nsv821104 12 130356515 130357225 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421031 S 1 0 1 "" NA10851 esv29263 12 130356515 130362944 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15376,esv11899,esv10301 M 451 6 2 "" NA11931,NA12006,NA12414,NA12489,NA18508,NA18907,NA19147,NA19240 nsv826548 12 130359849 130361041 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422112 S 31 1 0 "" NA18997 nsv826549 12 130359849 130361689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426067 S 31 1 0 "" AK4 nsv442660 12 130360121 130362400 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv899663 12 130362098 130380887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596694 S 6533 1 0 "" IS40616 nsv899664 12 130362098 130384373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511977 S 6533 0 1 "" SP55219 dgv1511n71 12 130362098 130395261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899670,nsv899669,nsv899665,nsv899668,nsv899666 M 6533 0 93 "" IS37698,MS10184,MS15030,MS15539,MS15630,MS16158,MS17618,MS18568,MS21163,MS21420,MS24508,MS24798,SP50110,SP50540,SP50796,SP50809,SP50850,SP51061,SP51143,SP51231,SP51237,SP51338,SP51449,SP51506,SP52117,SP52131,SP52399,SP52400,SP52559,SP52704,SP52734,SP53240,SP53288,SP53458,SP53471,SP53550,SP53569,SP53585,SP53625,SP53759,SP53803,SP54220,SP54456,SP54469,SP54517,SP54577,SP54581,SP54685,SP54782,SP54808,SP55102,SP55189,SP55279,SP55346,SP55349,SP55509,SP55531,SP55610,SP55791,SP55914,SP56085,SP56100,SP56200,SP56234,SP56238,SP56457,SP56843,SP56959,SP57020,SP57022,SP57062,SP57078,SP57137,SP57226,SP57268,SP57376,SP57506,SP57593,SP57716,SP57951,SP57958,SP58026,SP58208,SP58400,SP80909,SP81006,SP81074,SP81144,SP81152,SP81355,SP81367,SP81416,SP81504 dgv536e1 12 130363208 130391601 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv958,essv1041,essv7653 M 271 0 0 "" NA18632,NA18975,NA18981 nsv899667 12 130363561 130390749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570448 S 6533 1 0 "" IS32006 esv2421332 12 130363561 130398112 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055810,essv5079246,essv5012016,essv5102500,essv5121920,essv5159496,essv5072458,essv5032531,essv5054729,essv5104415,essv5075476,essv5136320,essv5024238,essv5087135,essv5020535,essv5039419,essv5145107,essv5156714,essv5089975,essv5094822,essv5004711,essv5154879,essv5027186,essv5116780,essv5127951,essv5024540,essv5143873,essv5109349,essv5150775,essv5071957,essv5112417,essv5042481,essv5151276,essv5149292,essv5138497,essv5043385,essv5022471,essv5154097,essv5142792,essv5123134,essv5076807,essv5111954,essv5115841,essv5026781,essv5069145,essv5005768,essv5021716 M 1184 0 47 "" NA07022,NA18160,NA18557,NA18563,NA18577,NA18632,NA18682,NA18945,NA18975,NA18981,NA19153,NA19154,NA19214,NA19221,NA19223,NA19316,NA19332,NA19371,NA19375,NA19390,NA19439,NA19446,NA19448,NA19473,NA19750,NA19751,NA19760,NA19761,NA19763,NA19777,NA19778,NA19901,NA20300,NA20509,NA20754,NA20785,NA21307,NA21384,NA21385,NA21387,NA21389,NA21478,NA21480,NA21580,NA21632,NA21650,NA21686 nsv9028 12 130363938 130391177 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20244,nssv26251,nssv20274,nssv21257 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18563,NA18975,NA19221 nsv826550 12 130364620 130391388 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429345 S 31 0 1 "" AK12 nsv455798 12 130366012 130374756 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533274 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01251 dgv19n64 12 130366012 130380887 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818942,nsv818940 M 112 0 2 "" NA18856,NA18992 nsv818941 12 130366012 130396285 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417243 S 112 0 1 "" NA18577 esv2597328 12 130368867 130369030 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307779 S 1 0 1 "" NA18507 esv2279493 12 130381671 130382134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693908 S 1 0 1 "" NA18507 esv5042 12 130381805 130382067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27483 S 1 0 1 Single Asian sample YH "" YH nsv442661 12 130382166 130391707 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818943 12 130396285 130487226 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417127 S 112 1 0 "" NA18537 esv2469970 12 130396932 130453369 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386904 S 1 0 0 "" NA18507 nsv899671 12 130412190 130686200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546830 S 6533 0 1 "" MS17208 dgv537e1 12 130412767 130550652 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11260,essv16904 M 271 0 0 "" NA19204,NA19205 esv991482 12 130416712 130417308 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564904 S 3 0 1 "" HuRef esv28219 12 130417350 130417985 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14478 S 451 2 2 "" NA11894,NA11931,NA12239,NA19257 esv7002 12 130417381 130417794 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29443 S 1 0 1 "" SJK nsv53398 12 130417821 130417928 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71976 M 24 "" esv1215892 12 130417960 130417960 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304758 S 2 1 0 "" HuRef nsv899672 12 130430724 130509165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538674 S 6533 0 1 "" MS13770 nsv9029 12 130431791 130437230 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26269 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv27100 12 130432627 130433957 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17506 S 451 0 4 "" NA18505,NA19099,NA19108,NA19257 nsv53119 12 130433767 130433821 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71697 M 24 "" esv24347 12 130443032 130444332 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17066 S 451 1 0 "" NA18916 nsv470330 12 130444525 130690613 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547006,nssv547007,nssv547008 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00376,HGDP00991,HGDP01228 esv23201 12 130452539 130453104 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21282 S 451 1 0 "" NA12239 nsv437777 12 130461537 130537929 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467658 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 nsv899673 12 130462685 130496439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591455 S 6533 0 1 "" IS38840 nsv442299 12 130466075 130524698 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv9956 12 130466076 130498370 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19204 nsv438244 12 130466076 130512460 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470566,nssv470565 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19204,NA19205 nsv470331 12 130466343 130511356 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547010 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00944 nsv517201 12 130466343 130511356 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651929,nssv679489,nssv653996,nssv667140,nssv701684,nssv655750,nssv667245,nssv657037,nssv681798 M 2026 1 8 "" dgv1512n71 12 130466463 130507914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899676,nsv899675,nsv899674 M 6533 0 3 "" IS37646,MS11306,MS11726 nsv9030 12 130469565 130480168 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21105 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv53573 12 130479739 130479739 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72151 M 24 "" nsv899677 12 130480730 130509165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575121 S 6533 0 1 "" IS33684 nsv899678 12 130480730 130520915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552937 S 6533 1 0 "" MS19649 esv2501682 12 130483245 130485111 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175830 S 1 0 1 "" NA18507 esv23284 12 130483471 130485176 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13792 S 451 0 6 "" NA18517,NA18858,NA19099,NA19114,NA19240,NA19257 esv1200745 12 130483706 130484180 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345965 S 2 0 1 "" HuRef nsv53306 12 130483933 130484827 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71884 M 24 "" nsv9031 12 130486367 130488216 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21135 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv899679 12 130487226 130505738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530132 S 6533 0 1 "" MS10204 nsv899680 12 130487226 130525291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573886 S 6533 0 1 "" IS33504 nsv899681 12 130499192 130520915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545078 S 6533 1 0 "" MS16643 nsv9032 12 130502968 130518952 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21165 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 esv2540912 12 130528055 130528361 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308046 S 1 1 0 "" NA18507 nsv819876 12 130528154 130528263 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418896 S 2 1 0 "" AK1 nsv9033 12 130534134 130550047 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21195 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv899682 12 130548968 130629111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552938 S 6533 1 0 "" MS19649 nsv517841 12 130557290 130561671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694170 S 2026 0 1 "" nsv899683 12 130565588 130676799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537127 S 6533 0 1 "" MS13095 nsv899684 12 130565588 130748162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543630 S 6533 0 1 "" MS16153 nsv899685 12 130565588 130931643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530764 S 6533 0 1 MMP17,SFSWAP MS10311 nsv9034 12 130577202 130580118 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24212 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv899686 12 130584654 130667092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505242 S 6533 1 0 "" SP53333 nsv455800 12 130598166 130690613 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533276 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00991 esv27699 12 130620996 130623265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12801 S 451 0 2 "" NA19099,NA19257 nsv9035 12 130621926 130623665 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20780 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv899687 12 130622263 130646059 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538961 S 6533 1 0 "" MS13872 nsv899688 12 130622263 130676799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538675 S 6533 0 1 "" MS13770 nsv899689 12 130622263 130721961 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558494 S 6533 1 0 "" MS23290 nsv9037 12 130622923 130625452 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24238 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 esv1364345 12 130625217 130625217 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939404 S 2 1 0 "" HuRef nsv9038 12 130625799 130628093 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21145 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 esv27665 12 130626890 130633891 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20403,esv14920,esv11252 M 451 4 23 "" NA07045,NA11894,NA11931,NA11993,NA11995,NA12156,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1354576 12 130627325 130627325 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674082 S 2 1 0 "" HuRef nsv509492 12 130628102 130678486 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618098,nssv619621,nssv618099,nssv620982 M 4 3 0 "" CHM,NA10860,NA15510 dgv218n27 12 130629111 130686200 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455801,nsv455802 M 1557 2 0 "" HGDP00376,HGDP00433 esv998379 12 130630529 130633954 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565427 S 3 1 0 "" HuRef esv1373502 12 130630942 130631110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879654 S 2 0 1 "" HuRef esv1170946 12 130631171 130631300 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947133 S 2 0 1 "" HuRef esv1218896 12 130631530 130631615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067794 S 2 0 1 "" HuRef esv1065152 12 130631694 130631758 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777910 S 2 0 1 "" HuRef dgv1513n71 12 130632191 130706589 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899690,nsv899692 M 6533 2 0 "" MS13455,SP51307 nsv899691 12 130632191 130766115 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520688 S 6533 1 0 SFSWAP SP51218 esv1694625 12 130632661 130632746 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592163 S 2 0 1 "" HuRef esv1076288 12 130632785 130632870 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187564 S 2 0 1 "" HuRef esv1469019 12 130633208 130633276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111069 S 2 0 1 "" HuRef esv2650636 12 130633210 130633305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382992 S 1 0 1 "" NA18507 esv1751554 12 130633344 130633344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179791 S 2 1 0 "" HuRef esv1694100 12 130638842 130638842 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256490 S 2 1 0 "" HuRef dgv1514n71 12 130639058 130683760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899698,nsv899695,nsv899693 M 6533 3 0 "" IS34680,IS34714,SP54429 nsv899694 12 130639759 130647154 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500371 S 6533 1 0 "" SP50061 nsv899696 12 130639759 130706589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549845 S 6533 0 1 "" MS18276 dgv1515n71 12 130639759 130735746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899700,nsv899697 M 6533 0 2 "" IS37646,MS11306 nsv512298 12 130643066 130645682 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624876 S 1 0 1 "" 1 esv2627542 12 130644452 130646072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161973 S 1 0 1 "" NA18507 esv1115585 12 130645181 130645490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994320 S 2 0 1 "" HuRef nsv941 12 130663105 130686586 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9981,nssv9092 M 9 2 0 "" NA12156,NA18956 nsv899699 12 130667092 131262259 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563396 S 6533 1 0 DDX51,EP400,EP400NL,GALNT9,MMP17,NOC4L,PUS1,SFSWAP,SNORA49,ULK1 MS25980 esv1682081 12 130667397 130667397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776683 S 2 1 0 "" HuRef essv7484 12 130669588 130745003 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18561 esv994048 12 130675950 130677006 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563643 S 3 1 0 "" HuRef nsv9039 12 130676390 130678383 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19342,nssv20666,nssv21287,nssv20304,nssv24264,nssv21638,nssv21225 M 31 3 4 Samples from several populations that are part of the HapMap project. "" NA12155,NA18537,NA18563,NA18942,NA18972,NA18975,NA19007 esv25067 12 130676786 130678665 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20625 S 451 0 4 "" NA12489,NA18502,NA18505,NA19147 esv1173965 12 130677889 130677957 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121966 S 2 0 1 "" HuRef nsv9040 12 130678754 130696149 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26287,nssv21317,nssv21255 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18563,NA19221 nsv442300 12 130680837 130686668 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818945 12 130681620 130690613 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417656,nssv1417252 M 112 2 0 "" NA18577,NA18992 nsv818946 12 130681620 130810754 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417129 S 112 1 0 SFSWAP NA18537 esv2333586 12 130682089 130682482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533074 S 1 0 1 "" NA18507 esv1256582 12 130682105 130682291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317741 S 2 0 1 "" HuRef nsv437159 12 130690200 130720827 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467040 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv437778 12 130690613 130710568 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467659 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19120 dgv310n67 12 130694450 130701240 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826551,nsv826552 M 31 0 2 "" NA18951,NA18973 esv1467271 12 130695765 130695765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025191 S 2 1 0 "" HuRef esv2555576 12 130696703 130718362 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201315 S 1 0 1 "" NA18507 nsv438245 12 130696856 130701708 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470575,nssv470572,nssv470577,nssv470578,nssv470569,nssv470571,nssv470567,nssv470568,nssv470573,nssv470570,nssv470576 M 269 0 11 Samples from several populations that are part of the HapMap project. "" NA10856,NA11829,NA11994,NA12006,NA12154,NA12751,NA12763,NA19119,NA19120,NA19201,NA19202 dgv311n67 12 130696868 130701240 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826555,nsv826554 M 31 0 3 "" NA18582,NA18942,NA18949 dgv37e180 12 130696868 130719361 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008497,esv992300 M 3 0 1 "" HuRef esv25714 12 130697891 130703518 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21060 S 451 0 17 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA12006,NA12239,NA12414,NA12489,NA12776,NA12828,NA18505,NA18907,NA19099,NA19108,NA19129,NA19240 nsv9041 12 130697991 130704119 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20696,nssv23367,nssv24320,nssv20868,nssv21175,nssv19372,nssv21347,nssv20334,nssv21697,nssv21285,nssv19159,nssv23237,nssv19055,nssv20974,nssv21639 M 31 1 14 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA12740,NA18504,NA18537,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA18980,NA19007,NA19240 dgv312n67 12 130698323 130701240 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826558,nsv826556,nsv826557 M 31 0 12 "" AK10,AK14,AK2,AK4,AK6,NA18547,NA18564,NA18947,NA18968,NA18972,NA18997,NA18999 nsv514653 12 130698520 130700176 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627120 S 1414 0 0 "" nsv442662 12 130698537 130699288 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421466 12 130698537 130700683 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5069552,essv5036787,essv5013537,essv5134631,essv5020219,essv5016305,essv5149888,essv5132340,essv5013515,essv5155055,essv5042813,essv5138786,essv5098189,essv5022628,essv5017951,essv5016544,essv5028432,essv5148606,essv5158551,essv5117414,essv5056826,essv5022045,essv5103383,essv5128375,essv5042358,essv5106140,essv5049326,essv5029843,essv5040441,essv5123539,essv5012262,essv5002272,essv5032580,essv5061083,essv5112167,essv5008150,essv5074026,essv5159862,essv5069412,essv5013882,essv5081864,essv5060114,essv5080132,essv5117343,essv5159214,essv5094428,essv5005884,essv5131930,essv5113552,essv5138261,essv5060903,essv5013239,essv5066589,essv5136632,essv5069736,essv5007031,essv5103375,essv5071593,essv5107620,essv5058263,essv5132402,essv5048110,essv5055502,essv5075079,essv5133894,essv5051377,essv5032560,essv5091966,essv5080069,essv5043002,essv5053317,essv5100838,essv5006752,essv5056940,essv5130469,essv5013222,essv5045822,essv5043831,essv5021857,essv5070685,essv5078234,essv5021037,essv5119108,essv5058309,essv5043346,essv5157158,essv5129899,essv5123683,essv5146191,essv5076206,essv5125691,essv5132276,essv5067079,essv5111003,essv5123422,essv5055725,essv5073490,essv5008284,essv5095439,essv5141042,essv5095249,essv5084981,essv5156931,essv5102085,essv5021054,essv5028379,essv5134361,essv5148528,essv5155124,essv5130295,essv5037798,essv5009017,essv5082582,essv5081190,essv5083015,essv5158404,essv5133639,essv5158964,essv5131179,essv5157226,essv5069204,essv5088536,essv5154022,essv5030250,essv5028749,essv5077652,essv5020050,essv5036320,essv5020318,essv5144590,essv5152586,essv5110248,essv5140793,essv5151359,essv5150699,essv5005356,essv5038905,essv5104138,essv5106710,essv5002196,essv5093229,essv5037487,essv5010073,essv5143750,essv5055837,essv5123719,essv5041819,essv5016343,essv5014645,essv5147224,essv5145829,essv5137335,essv5111600,essv5083859,essv5096732,essv5063601,essv5145436,essv5087005,essv5118840,essv5095014,essv5065646,essv5094017,essv5158282,essv5004276,essv5059427,essv5006933,essv5036390,essv5087436,essv5131146,essv5058436,essv5080569,essv5015564,essv5110856,essv5080802,essv5007286,essv5076745,essv5052890,essv5113646,essv5069147,essv5048160,essv5035758,essv5148343,essv5021321,essv5122065,essv5073245,essv5021171,essv5099382,essv5083039,essv5130939,essv5136218,essv5021444,essv5144982,essv5112547,essv5020277,essv5118947,essv5012492,essv5051376,essv5107805,essv5132279,essv5004483,essv5127691,essv5129620,essv5107300,essv5146667,essv5131681,essv5115340,essv5136236,essv5049599,essv5137828,essv5031079,essv5070956,essv5096900,essv5061302,essv5127535,essv5038863,essv5153551,essv5048126,essv5134619,essv5052928,essv5092228,essv5135344,essv5080607,essv5126619,essv5107355,essv5139276,essv5138493,essv5157540,essv5019014,essv5026977,essv5049279,essv5081682,essv5111218,essv5035205,essv5045074,essv5096200,essv5002581,essv5068589,essv5053397,essv5088413,essv5002675,essv5021829,essv5069455,essv5085373,essv5095784,essv5141189,essv5115838,essv5014490,essv5033678,essv5103077,essv5112016,essv5014057,essv5090321,essv5067474,essv5146561,essv5086776,essv5069691,essv5156671,essv5027601,essv5085345,essv5012806,essv5029106,essv5027065,essv5134531,essv5056944,essv5002582,essv5135015,essv5136393,essv5021835,essv5049676,essv5027311,essv5078591,essv5081092,essv5077619,essv5030395,essv5060124,essv5132904,essv5017615,essv5037680,essv5025943,essv5110082,essv5024584,essv5079687,essv5121627,essv5097646,essv5045493,essv5020014,essv5075116,essv5083101,essv5118151,essv5072738,essv5092858,essv5076843,essv5142195,essv5008517,essv5012026,essv5072982,essv5007010,essv5031420,essv5050186,essv5112069,essv5078364,essv5131367,essv5081799,essv5105459,essv5056852,essv5115567,essv5031445,essv5127265,essv5150307,essv5004340,essv5076829,essv5147144,essv5137270,essv5065458,essv5145218,essv5018604,essv5151719,essv5003772,essv5108266,essv5101182,essv5033106,essv5129214,essv5150902,essv5122020,essv5093018,essv5027023,essv5093856,essv5087813,essv5122914,essv5006612,essv5061660,essv5027906,essv5159887,essv5085945,essv5121262,essv5014353,essv5032609,essv5132780,essv5073241,essv5050973,essv5054802,essv5043159,essv5084555,essv5037039,essv5128364,essv5008532,essv5132823,essv5096256,essv5025220,essv5051419,essv5059567,essv5029486,essv5085384,essv5022216,essv5014472,essv5002657,essv5045975,essv5043943,essv5064060,essv5140943,essv5056293,essv5031629,essv5083399,essv5131119,essv5067269,essv5133858,essv5027751,essv5112794,essv5137311,essv5033520,essv5092524,essv5028266,essv5052225,essv5153784,essv5027962,essv5012155,essv5111373,essv5134922,essv5095079,essv5100126,essv5019613,essv5089071,essv5022597,essv5080350,essv5129126,essv5144426,essv5108829,essv5095920,essv5099463,essv5003129,essv5133503,essv5082876,essv5014666,essv5040053,essv5095570,essv5142990,essv5087261,essv5136406,essv5020331,essv5070337,essv5111231,essv5159399,essv5038711,essv5119217,essv5144906,essv5130045,essv5028134,essv5151977,essv5151793,essv5147020,essv5079229,essv5107139,essv5099870,essv5119092,essv5128193,essv5055401,essv5115414,essv5141159,essv5108295,essv5083122,essv5108770,essv5124515,essv5122248,essv5070403,essv5097782,essv5106434,essv5091011,essv5125782,essv5118221,essv5151326,essv5140346,essv5047531,essv5066180,essv5008041,essv5051733,essv5099502,essv5072690,essv5125501,essv5085995 M 1184 0 439 "" NA06984,NA06985,NA06986,NA06995,NA07000,NA07037,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10836,NA10837,NA10839,NA10843,NA10845,NA10847,NA10852,NA10856,NA10859,NA10861,NA10864,NA10865,NA11829,NA11830,NA11843,NA11881,NA11892,NA11893,NA11894,NA11917,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA12006,NA12045,NA12056,NA12146,NA12154,NA12239,NA12272,NA12282,NA12283,NA12286,NA12336,NA12342,NA12343,NA12375,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12751,NA12753,NA12763,NA12766,NA12776,NA12812,NA12828,NA12832,NA12842,NA12875,NA12877,NA12889,NA12890,NA17965,NA17970,NA17975,NA17982,NA17987,NA17990,NA17997,NA18101,NA18102,NA18107,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18128,NA18134,NA18135,NA18136,NA18141,NA18146,NA18147,NA18148,NA18152,NA18158,NA18159,NA18161,NA18166,NA18498,NA18503,NA18504,NA18505,NA18506,NA18507,NA18518,NA18519,NA18529,NA18532,NA18544,NA18548,NA18550,NA18558,NA18559,NA18562,NA18563,NA18564,NA18571,NA18572,NA18582,NA18595,NA18596,NA18597,NA18599,NA18611,NA18613,NA18614,NA18618,NA18620,NA18621,NA18622,NA18636,NA18637,NA18638,NA18640,NA18641,NA18647,NA18670,NA18674,NA18694,NA18704,NA18740,NA18745,NA18747,NA18748,NA18910,NA18911,NA18924,NA18939,NA18940,NA18942,NA18944,NA18947,NA18949,NA18951,NA18952,NA18953,NA18954,NA18959,NA18960,NA18962,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18990,NA18994,NA18997,NA18998,NA19001,NA19005,NA19007,NA19009,NA19041,NA19055,NA19057,NA19058,NA19060,NA19063,NA19065,NA19068,NA19070,NA19076,NA19078,NA19080,NA19081,NA19083,NA19084,NA19086,NA19087,NA19088,NA19099,NA19108,NA19109,NA19119,NA19120,NA19127,NA19129,NA19152,NA19184,NA19185,NA19197,NA19199,NA19201,NA19202,NA19239,NA19240,NA19309,NA19317,NA19319,NA19324,NA19327,NA19332,NA19346,NA19352,NA19373,NA19374,NA19381,NA19398,NA19430,NA19439,NA19440,NA19445,NA19452,NA19466,NA19469,NA19470,NA19650,NA19651,NA19654,NA19656,NA19657,NA19658,NA19659,NA19663,NA19670,NA19671,NA19675,NA19677,NA19684,NA19701,NA19702,NA19704,NA19714,NA19716,NA19718,NA19722,NA19724,NA19749,NA19751,NA19755,NA19757,NA19759,NA19760,NA19761,NA19763,NA19770,NA19779,NA19783,NA19784,NA19789,NA19790,NA19818,NA19828,NA19834,NA19901,NA19904,NA19985,NA20276,NA20300,NA20334,NA20336,NA20348,NA20349,NA20350,NA20357,NA20360,NA20504,NA20505,NA20510,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20535,NA20539,NA20581,NA20586,NA20752,NA20755,NA20756,NA20757,NA20758,NA20761,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20786,NA20790,NA20792,NA20796,NA20797,NA20799,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20810,NA20812,NA20815,NA20816,NA20818,NA20828,NA20845,NA20849,NA20850,NA20851,NA20856,NA20870,NA20871,NA20873,NA20875,NA20884,NA20885,NA20889,NA20890,NA20891,NA20895,NA20897,NA20900,NA20901,NA20902,NA20903,NA20907,NA20908,NA20909,NA20910,NA21086,NA21092,NA21097,NA21099,NA21104,NA21117,NA21118,NA21119,NA21137,NA21144,NA21300,NA21307,NA21312,NA21320,NA21353,NA21356,NA21363,NA21364,NA21370,NA21379,NA21381,NA21384,NA21385,NA21387,NA21389,NA21390,NA21400,NA21414,NA21436,NA21476,NA21478,NA21479,NA21480,NA21486,NA21487,NA21491,NA21520,NA21521,NA21523,NA21525,NA21529,NA21576,NA21580,NA21583,NA21596,NA21608,NA21614,NA21617,NA21632,NA21635,NA21650,NA21682,NA21685,NA21686,NA21689,NA21738,NA21739,NA21740,NA21741,NA21776,NA21784,NA21826 nsv826559 12 130698870 130700897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432362 S 31 0 1 "" AK20 esv32930 12 130698911 130701069 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101548,essv94619,essv99030,essv96188,essv96655,essv93503,essv94937,essv96467,essv99301,essv98392 M 51 0 10 "" 21603,21932,21938,22007,22011,22128,22231,22261,22275,22352 nsv899701 12 130706589 130868277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546831 S 6533 0 1 SFSWAP MS17208 nsv9042 12 130717697 130726194 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21315 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv9043 12 130728675 130730242 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21668,nssv26304 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA19221 nsv9044 12 130734002 130813618 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21345 S 31 1 0 Samples from several populations that are part of the HapMap project. SFSWAP NA18537 nsv826560 12 130745802 130811770 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439930 S 31 1 0 SFSWAP NA18537 esv25328 12 130751545 130752330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12315 S 451 0 4 "" NA07037,NA18505,NA19108,NA19129 esv1589745 12 130751646 130751786 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756473 S 2 0 1 "" HuRef nsv455803 12 130799096 130988197 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533279 S 1557 1 0 MMP17,PUS1,SFSWAP,ULK1 1780862435_A nsv832555 12 130826142 130978591 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450099,nssv1450102,nssv1450097,nssv1450098,nssv1450101,nssv1450100 M 95 0 6 MMP17,SFSWAP,ULK1 esv2751042 12 130826637 131055899 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984953,essv6984952,essv6988871,essv6984951,essv6987123 M 771 1 0 EP400,MMP17,PUS1,SFSWAP,ULK1 SPC_20 nsv52992 12 130829672 130829672 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71570 M 24 SFSWAP esv997559 12 130829700 130829700 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578662 S 3 1 0 SFSWAP HuRef esv1251086 12 130829710 130829710 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785598 S 2 1 0 SFSWAP HuRef esv1960496 12 130851805 130852244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830540 S 1 0 1 "" NA18507 dgv1516n71 12 130870012 131023147 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899703,nsv899705,nsv899702,nsv899704 M 6533 0 5 EP400,MMP17,PUS1,ULK1 IS33684,IS37646,IS39233,MS13770,MS18276 nsv826561 12 130877910 130981237 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430097 S 31 1 0 MMP17,PUS1,ULK1 AK14 nsv455804 12 130892812 130985486 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533280 S 1557 0 1 MMP17,PUS1,ULK1 1780862021_A esv995281 12 130915624 130915695 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573117 S 3 0 1 "" HuRef esv1257044 12 130915676 130915748 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194491 S 2 0 1 "" HuRef nsv9045 12 130920030 130957398 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21669,nssv22228,nssv19189,nssv20643,nssv21375,nssv18610,nssv24070,nssv20496,nssv21599,nssv26321,nssv23265,nssv19115,nssv19832,nssv18881 M 31 12 2 Samples from several populations that are part of the HapMap project. ULK1 NA07029,NA07048,NA10847,NA10863,NA12740,NA12802,NA12872,NA18502,NA18504,NA18537,NA18572,NA19144,NA19173,NA19221 nsv513378 12 130921667 130922383 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625772 S 1 1 0 "" 1 nsv437780 12 130927369 130944086 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467661 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 esv990859 12 130935419 130949407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563708 S 3 0 1 ULK1 HuRef dgv1517n71 12 130940263 130979672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899706,nsv899709,nsv899708 M 6533 0 4 ULK1 SP54043,SP54725,SP54956,SP54988 nsv899707 12 130943970 130962825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511220 S 6533 0 1 ULK1 SP55019 nsv899710 12 130946278 130971374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508652 S 6533 0 1 ULK1 SP54672 nsv942 12 130956667 130985548 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1133 S 9 1 0 PUS1,ULK1 NA19240 nsv899711 12 130957364 130967863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508233 S 6533 0 1 ULK1 SP54684 nsv899712 12 130957364 130972961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514289 S 6533 0 1 ULK1 SP55992 esv2274339 12 130967407 130967844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735135 S 1 0 1 ULK1 NA18507 esv1205823 12 130976929 130976929 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853691 S 2 1 0 "" HuRef nsv826562 12 130982708 130984108 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432364 S 31 0 1 PUS1 AK20 esv7722 12 131030833 131030895 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30163 S 1 1 0 EP400 SJK dgv1518n71 12 131047227 131185052 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899713,nsv899715,nsv899714 M 6533 0 3 EP400,EP400NL,SNORA49 IS32888,MS10311,MS11726 esv2512701 12 131048777 131049760 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184304 S 1 1 0 EP400 NA18507 esv1602214 12 131049403 131049403 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147312 S 2 1 0 EP400 HuRef dgv1519n71 12 131055055 131268822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899721,nsv899716,nsv899718,nsv899717 M 6533 0 4 DDX51,EP400,EP400NL,GALNT9,NOC4L,SNORA49 IS33684,IS34235,IS39233,IS40396 dgv1520n71 12 131055055 131692481 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899723,nsv899724,nsv899733,nsv899719 M 6533 0 4 DDX51,EP400,EP400NL,FBRSL1,GALNT9,LOC100130238,LOC100507055,NOC4L,SNORA49 IS32737,MS16153,MS17208,MS18276 nsv899720 12 131087425 131205371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580894 S 6533 0 1 DDX51,EP400,EP400NL,NOC4L IS35484 dgv1521n71 12 131103205 131199505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899726,nsv899728,nsv899727,nsv899722,nsv899725,nsv899729 M 6533 0 8 DDX51,EP400,EP400NL,NOC4L IS30835,IS32841,IS33455,IS33601,IS37646,IS39258,IS41243,MS10123 nsv428285 12 131115602 131259011 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452348 S 62 1 0 DDX51,EP400,EP400NL,GALNT9,NOC4L NA18916 dgv1522n71 12 131128244 131530313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899746,nsv899747,nsv899730,nsv899738 M 6533 0 4 DDX51,EP400,EP400NL,GALNT9,LOC100130238,NOC4L IS33504,MS10311,MS10769,SP54988 esv2288713 12 131138900 131139313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775574 S 1 0 1 EP400NL NA18507 dgv1523n71 12 131141094 131200116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899731,nsv899735,nsv899734 M 6533 0 3 DDX51,EP400NL,NOC4L MS10311,MS13770,SP54956 dgv1524n71 12 131141094 131265722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899732,nsv899737,nsv899736 M 6533 0 4 DDX51,EP400NL,GALNT9,NOC4L IS31656,IS33514,IS38144,IS40230 nsv509493 12 131143121 131216249 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620983,nssv619622,nssv623640 M 4 3 0 DDX51,EP400NL,NOC4L NA10860,NA15510,NA18994 nsv470333 12 131167549 131269754 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547013,nssv547011,nssv547012,nssv547014 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DDX51,EP400NL,GALNT9,NOC4L HGDP00302,HGDP00550,HGDP00789,HGDP00978 dgv103n21 12 131167549 131528755 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527956,nsv518033 M 2026 0 2 DDX51,EP400NL,GALNT9,LOC100130238,NOC4L nsv826563 12 131175881 131708999 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430098 S 31 1 0 DDX51,EP400NL,FBRSL1,GALNT9,LOC100130238,LOC100507055,NOC4L,P2RX2 AK14 nsv899739 12 131176266 131205371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576435,nssv1548397 M 6533 0 2 DDX51,EP400NL,NOC4L IS34057,MS17825 nsv899740 12 131176266 131229376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573067 S 6533 0 1 DDX51,EP400NL,NOC4L IS33239 dgv1525n71 12 131176266 131254795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899742,nsv899741 M 6533 0 2 DDX51,EP400NL,GALNT9,NOC4L MS10698,MS11054 nsv899743 12 131176266 131380529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544292 S 6533 0 1 DDX51,EP400NL,GALNT9,LOC100130238,NOC4L MS16315 nsv899744 12 131180623 131199505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506035 S 6533 0 1 DDX51,NOC4L SP54043 nsv512299 12 131184845 131186956 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624878 S 1 0 1 "" 1 esv27986 12 131185082 131186982 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16375 S 451 1 13 "" NA07037,NA12044,NA12749,NA18502,NA18508,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19225,NA19257 esv1959761 12 131185255 131187074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954086 S 1 0 1 "" NA18507 esv1183844 12 131185665 131185983 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150595 S 2 0 1 "" HuRef esv1047731 12 131186150 131186710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791660 S 2 0 1 "" HuRef nsv944 12 131189014 131214981 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1134,nssv6545 M 9 2 0 DDX51,NOC4L NA12156,NA19240 nsv899745 12 131189683 131200116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508379 S 6533 0 1 DDX51,NOC4L SP54684 nsv899748 12 131196775 131259440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563926 S 6533 1 0 GALNT9,NOC4L IS30129 nsv899749 12 131196775 131338907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584831 S 6533 0 1 GALNT9,NOC4L IS37172 esv990728 12 131197610 131211865 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565073 S 3 0 1 NOC4L HuRef esv29137 12 131199340 131201295 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11616 S 451 1 15 NOC4L NA06985,NA07037,NA07045,NA11931,NA11995,NA12004,NA12006,NA12749,NA12776,NA12828,NA18505,NA18508,NA18517,NA18523,NA18907,NA19190 nsv53069 12 131199389 131199476 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71647 M 24 NOC4L esv992467 12 131199490 131201250 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586543 S 3 0 1 NOC4L HuRef dgv1526n71 12 131205371 131268822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899751,nsv899750 M 6533 0 2 GALNT9 IS31090,IS37646 esv8578 12 131207042 131207326 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31019 S 1 0 1 "" SJK esv6919 12 131207060 131208216 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29360 S 1 0 1 "" SJK esv9388 12 131207894 131208067 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31829 S 1 0 1 "" SJK esv1209588 12 131208096 131208277 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594713 S 2 0 1 "" HuRef esv1271704 12 131208282 131208572 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846397 S 2 0 1 "" HuRef esv1396436 12 131208582 131208832 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133521 S 2 0 1 "" HuRef esv1204267 12 131212248 131212248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214985 S 2 1 0 "" HuRef nsv528119 12 131225273 131268822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704662 S 2026 0 1 GALNT9 nsv899752 12 131230624 131259440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580895 S 6533 0 1 GALNT9 IS35484 nsv899754 12 131230624 131358989 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537128,nssv1598039,nssv1583659 M 6533 2 1 GALNT9 IS36563,IS41009,MS13095 dgv1527n71 12 131230624 131380529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899756,nsv899755,nsv899761 M 6533 0 3 GALNT9,LOC100130238 IS32841,IS38293,MS13727 esv1498160 12 131232650 131232650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068746 S 2 1 0 "" HuRef dgv1528n71 12 131249101 131559940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899764,nsv899757 M 6533 0 2 GALNT9,LOC100130238 IS39233,MS10123 nsv520897 12 131249815 131268822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677213,nssv679334 M 2026 0 2 GALNT9 dgv1529n71 12 131251193 131570798 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899758,nsv899760 M 6533 2 0 GALNT9,LOC100130238 MS18894,SP55005 dgv1530n71 12 131254795 131478213 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899762,nsv899763,nsv899759 M 6533 0 4 GALNT9,LOC100130238 IS32322,IS33684,IS37646,MS13770 nsv512300 12 131262418 131264589 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624879 S 1 0 1 GALNT9 1 esv27874 12 131262649 131263704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11818 S 451 0 5 GALNT9 NA12489,NA12776,NA15510,NA18505,NA18916 esv1766304 12 131263007 131263608 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958871 S 2 0 1 GALNT9 HuRef esv1994448 12 131263408 131263862 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4537623 S 1 0 1 GALNT9 NA18507 esv23126 12 131321390 131331765 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18183 S 451 5 2 GALNT9 NA06985,NA11993,NA12044,NA12156,NA18916,NA19099,NA19225 esv996047 12 131321816 131332206 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565332 S 3 0 1 GALNT9 HuRef esv996584 12 131321972 131322241 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583103 S 3 0 1 GALNT9 HuRef esv1566393 12 131322957 131324660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078770 S 2 0 1 GALNT9 HuRef esv1661581 12 131324877 131325462 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678288 S 2 0 1 GALNT9 HuRef esv1746298 12 131325636 131326133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974282 S 2 0 1 GALNT9 HuRef esv1133096 12 131326192 131326680 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034333 S 2 0 1 GALNT9 HuRef esv1095643 12 131326684 131326774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631122 S 2 0 1 GALNT9 HuRef esv1357697 12 131327094 131328399 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180437 S 2 0 1 GALNT9 HuRef esv1462855 12 131328435 131329110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899888 S 2 0 1 GALNT9 HuRef nsv53189 12 131329503 131329503 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71767 M 24 GALNT9 nsv52579 12 131334241 131334312 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71157 M 24 GALNT9 esv1156001 12 131346609 131346702 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170976 S 2 0 1 GALNT9 HuRef esv1005562 12 131346610 131346702 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579956 S 3 0 1 GALNT9 HuRef esv26563 12 131368416 131368906 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14708 S 451 1 0 GALNT9 NA19257 esv2473849 12 131376693 131378745 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338262 S 1 0 1 GALNT9 NA18507 nsv512301 12 131376799 131378624 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624880 S 1 0 1 GALNT9 1 esv1257970 12 131377386 131377761 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052317 S 2 0 1 GALNT9 HuRef esv1160630 12 131377789 131377924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912748 S 2 0 1 GALNT9 HuRef nsv52990 12 131381290 131381290 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71568 M 24 GALNT9 nsv826565 12 131383119 131385249 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424511,nssv1436970 M 31 1 1 GALNT9 NA18542,NA18582 esv998915 12 131383378 131385249 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587234 S 3 0 1 GALNT9 HuRef nsv826566 12 131383378 131385249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441449 S 31 1 0 GALNT9 NA18969 esv29785 12 131383738 131387837 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18503 S 451 1 0 GALNT9 NA06985 esv25270 12 131390068 131392463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10923 S 451 0 18 GALNT9 NA11995,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA18502,NA18517,NA18523,NA18858,NA19099,NA19114,NA19147,NA19225,NA19240,NA19257 esv991305 12 131403648 131403648 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572749 S 3 1 0 GALNT9 HuRef esv1002994 12 131407291 131407291 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577146 S 3 1 0 GALNT9 HuRef nsv899765 12 131407330 131665056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575732 S 6533 0 1 FBRSL1,GALNT9 IS33797 esv1002138 12 131446034 131446101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577051 S 3 0 1 "" HuRef esv1306928 12 131448915 131448968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190007 S 2 0 1 "" HuRef nsv52922 12 131449219 131449272 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71500 M 24 "" esv1944503 12 131452222 131452882 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597848 S 1 0 1 "" NA18507 esv2880 12 131452265 131453000 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25321 S 1 0 1 Single Asian sample YH "" YH esv5591 12 131452288 131452785 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28032 S 1 0 1 "" SJK esv2554663 12 131463435 131465401 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238078 S 1 0 1 "" NA18507 esv24064 12 131467413 131471822 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12791,esv21109 M 451 0 15 "" NA11931,NA11995,NA12006,NA12776,NA12828,NA18502,NA18505,NA18523,NA18907,NA18909,NA19114,NA19147,NA19190,NA19225,NA19257 esv6110 12 131467521 131467620 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28551 S 1 1 0 "" SJK esv7201 12 131467604 131468297 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29642 S 1 0 1 "" SJK esv1397432 12 131468341 131468470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697745 S 2 0 1 "" HuRef nsv53062 12 131468350 131468822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71640 M 24 "" esv2272037 12 131469108 131470149 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560635 S 1 0 1 "" NA18507 esv21646 12 131473938 131475738 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13934,esv21061 M 451 5 0 "" NA06985,NA12156,NA18858,NA18861,NA18916 esv1516215 12 131474613 131474613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108374 S 2 1 0 "" HuRef esv1460364 12 131481263 131481263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257765 S 2 1 0 "" HuRef esv8481 12 131481268 131481340 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30922 S 1 1 0 "" SJK esv29475 12 131483704 131484789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11841 S 451 0 4 "" NA12776,NA18909,NA18916,NA19240 dgv1531n71 12 131490072 131712077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899775,nsv899766,nsv899778,nsv899779,nsv899768,nsv899769 M 6533 0 7 FBRSL1,LOC100507055,P2RX2,POLE IS31045,IS31656,IS32322,IS33455,IS35484,MS11306,MS13095 dgv313n67 12 131497021 131498654 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826568,nsv826567 M 31 0 3 "" AK8,NA18564,NA18947 esv7092 12 131497054 131497497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29533 S 1 0 1 "" SJK esv5721 12 131497107 131498670 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28162 S 1 0 1 "" SJK esv1207617 12 131498015 131498015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257697 S 2 1 0 "" HuRef esv25088 12 131498647 131500532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20334 S 451 0 2 "" NA12006,NA18505 nsv512302 12 131498806 131502348 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624881 S 1 0 1 "" 1 esv1155116 12 131498879 131499385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101155 S 2 0 1 "" HuRef dgv1532n71 12 131507619 131564729 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899770,nsv899767 M 6533 0 2 "" MS16828,SP55695 nsv509494 12 131507795 131612958 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619624 S 4 1 0 FBRSL1 NA10860 nsv899771 12 131518846 131542948 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544068 S 6533 1 0 "" MS16228 nsv455805 12 131518846 131554987 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533281 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01310 esv2009414 12 131523313 131523764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4778794 S 1 0 1 "" NA18507 nsv899772 12 131528755 131547212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530384 S 6533 0 1 "" MS10311 dgv1533n71 12 131531466 131678218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899773,nsv899777,nsv899783,nsv899781 M 6533 0 4 FBRSL1 IS34304,IS38144,MS11237,MS13770 nsv528778 12 131532533 131534577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705444 S 2026 0 1 "" nsv528876 12 131532533 131536219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705556 S 2026 0 1 "" dgv1534n71 12 131532533 131894937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899774,nsv899776 M 6533 0 2 ANKLE2,FBRSL1,GOLGA3,LOC100507055,P2RX2,PGAM5,POLE,PXMP2 IS33504,IS37646 nsv899780 12 131542948 131583923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530767 S 6533 0 1 FBRSL1 MS10311 dgv1535n71 12 131554987 131665056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899782,nsv899805,nsv899803,nsv899802 M 6533 0 8 FBRSL1 IS33514,IS33665,IS39233,IS40828,IS41634,MS10311,MS13727,SP54782 dgv1536n71 12 131554987 131712813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899784,nsv899793,nsv899788,nsv899790,nsv899789,nsv899795,nsv899797,nsv899794,nsv899787,nsv899801,nsv899796 M 6533 0 13 FBRSL1,LOC100507055,P2RX2,POLE IS30369,IS32841,IS32918,IS33239,IS33684,IS39417,IS40230,IS40297,IS40502,MS10769,MS16315,SP54043,SP54988 esv2411747 12 131556121 131556617 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606874 S 1 0 1 "" NA18507 nsv52980 12 131556302 131556381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71558 M 24 "" esv1337340 12 131556330 131556410 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943312 S 2 0 1 "" HuRef esv2423764 12 131558964 131561191 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300612 S 1 0 1 "" NA18507 nsv512303 12 131559242 131560882 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624882 S 1 0 1 "" 1 esv3142 12 131559448 131560928 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25583 S 1 0 1 Single Asian sample YH "" YH esv23856 12 131559496 131561291 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12072 S 451 5 3 "" NA12044,NA12239,NA12414,NA15510,NA18505,NA18858,NA19129,NA19257 nsv899785 12 131560709 131613336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510060 S 6533 0 1 FBRSL1 SP54956 dgv1537n71 12 131560709 131678218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899786,nsv899799,nsv899800,nsv899792 M 6533 0 5 FBRSL1 IS34057,IS34235,IS35968,IS37172,IS40396 nsv470334 12 131564729 131640365 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547015 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBRSL1 HGDP00697 dgv1538n71 12 131570914 131688490 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv899791,nsv899804 M 6533 2 6 FBRSL1 IS32803,IS34407,IS38063,IS38176,IS39258,MS10698,MS17522,SP55005 nsv899798 12 131578893 131665056 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588964 S 6533 1 0 FBRSL1 IS38270 esv2407620 12 131585799 131586202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603005 S 1 0 1 FBRSL1 NA18507 esv991918 12 131585916 131585999 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574845 S 3 0 1 FBRSL1 HuRef esv1553523 12 131585958 131586042 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107315 S 2 0 1 FBRSL1 HuRef esv29631 12 131595270 131599219 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16512 S 451 0 2 FBRSL1 NA12004,NA12489 dgv1539n71 12 131603653 131678218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899808,nsv899807,nsv899806 M 6533 0 3 FBRSL1 IS32306,IS38211,MS18276 dgv1540n71 12 131603653 131694345 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899810,nsv899809 M 6533 0 2 FBRSL1,LOC100507055 MS17208,SP54684 nsv455806 12 131603653 131701256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533282 S 1557 0 1 FBRSL1,LOC100507055 1780862346_A nsv455807 12 131627562 131671419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533283 S 1557 0 1 FBRSL1 1780862444_A dgv1541n71 12 131630382 131689174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899811,nsv899812,nsv899815,nsv899819 M 6533 0 4 FBRSL1 SP54725,SP54750,SP55019,SP56223 dgv1542n71 12 131640365 131678218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899814,nsv899813,nsv899818,nsv899817,nsv899823 M 6533 0 6 FBRSL1 IS39363,IS40449,SP51109,SP54591,SP55318,SP81010 dgv1543n71 12 131640365 131717485 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899816,nsv899821,nsv899820,nsv899822,nsv899824,nsv899825 M 6533 0 6 FBRSL1,LOC100507055,P2RX2,POLE IS33178,IS39233,MS10311,MS11726,SP54956,SP55021 nsv826569 12 131640502 131675091 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426996 S 31 1 0 FBRSL1 AK6 esv1661784 12 131643355 131643355 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962890 S 2 1 0 FBRSL1 HuRef esv1562329 12 131643415 131643415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332661 S 2 1 0 FBRSL1 HuRef esv2040735 12 131650242 131650717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771009 S 1 0 1 FBRSL1 NA18507 nsv53631 12 131650347 131650508 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72209 M 24 FBRSL1 esv1040121 12 131650424 131650586 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617599 S 2 0 1 FBRSL1 HuRef nsv455809 12 131665056 131692481 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533285 S 1557 0 1 FBRSL1,LOC100507055 1780862093_A nsv899826 12 131665497 131730599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549848 S 6533 0 1 FBRSL1,LOC100507055,P2RX2,POLE MS18276 esv1130856 12 131672517 131672517 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710291 S 2 1 0 "" HuRef esv21520 12 131678911 131681081 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17221 S 451 0 1 "" NA18907 esv29672 12 131684673 131685228 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20581 S 451 1 0 "" NA18508 nsv455810 12 131688490 131695746 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533286 S 1557 0 1 LOC100507055 1780862557_A esv2422284 12 131690907 131795580 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161513 S 181 0 1 LOC100507055,P2RX2,POLE,PXMP2 ND03355 esv271441 12 131693513 131693834 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496699,essv2511248,essv2499475,essv2502538,essv2493392,essv2498284,essv2497805,essv2499882,essv2504544,essv2507838,essv2511272,essv2494394,essv2500081,essv2508153,essv2507492,essv2500526,essv2503590,essv2499516 M 157 18 0 Samples from several populations that are part of the HapMap project. LOC100507055 NA06986,NA07357,NA11894,NA11931,NA12044,NA12750,NA12776,NA18526,NA18555,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18579,NA18638,NA18956 esv2176473 12 131707365 131707796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618797 S 1 0 1 P2RX2 NA18507 nsv52739 12 131707523 131707583 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71317 M 24 P2RX2 esv1007069 12 131707524 131707584 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566193 S 3 0 1 P2RX2 HuRef esv1521676 12 131707566 131707627 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979675 S 2 0 1 P2RX2 HuRef nsv899827 12 131722765 131801952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499433 S 6533 1 0 PGAM5,POLE,PXMP2 SP50046 esv1667239 12 131761507 131761564 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291685 S 2 0 1 POLE HuRef nsv820101 12 131766311 131766861 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419001 S 2 0 1 POLE AK1 nsv512304 12 131772884 131776106 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624883 S 1 0 1 POLE,PXMP2 1 esv24887 12 131774638 131776003 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12426 S 451 1 3 PXMP2 NA12749,NA15510,NA18916,NA19147 esv25236 12 131778543 131782673 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14458 S 451 7 0 PXMP2 NA07045,NA11894,NA11931,NA12006,NA12044,NA12239,NA19257 nsv820594 12 131778543 131782673 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421032 S 1 0 1 PXMP2 NA10851 nsv512305 12 131778697 131781059 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624884 S 1 0 1 PXMP2 1 nsv53840 12 131814346 131814346 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72418 M 24 ANKLE2 esv21605 12 131816045 131817047 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17393 S 451 1 0 ANKLE2 NA12044 esv2328159 12 131816837 131817263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740593 S 1 0 1 ANKLE2 NA18507 nsv53329 12 131817055 131817117 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71907 M 24 ANKLE2 dgv1544n71 12 131829062 131900071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899830,nsv899828,nsv899829 M 6533 0 4 ANKLE2,GOLGA3 IS39233,MS10769,MS16153,MS17208 nsv513379 12 131829094 131829787 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625773 S 1 1 0 ANKLE2 1 esv2621079 12 131829096 131829747 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262502 S 1 1 0 ANKLE2 NA18507 esv1009039 12 131845789 131845875 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583619 S 3 0 1 ANKLE2 HuRef esv1331463 12 131845840 131845927 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290704 S 2 0 1 ANKLE2 HuRef dgv1545n71 12 131851417 131894937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899832,nsv899831 M 6533 0 2 GOLGA3 IS40230,MS10311 nsv455811 12 131856244 131901027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533287 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GOLGA3 HGDP01097 esv22525 12 131862790 131863360 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10080 S 451 0 1 GOLGA3 NA12489 esv994357 12 131862804 131862882 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574220 S 3 0 1 GOLGA3 HuRef esv1041062 12 131862855 131862934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230273 S 2 0 1 GOLGA3 HuRef esv1379006 12 131863214 131863293 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071091 S 2 0 1 GOLGA3 HuRef esv1610869 12 131876450 131876450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174171 S 2 1 0 GOLGA3 HuRef nsv52999 12 131876451 131876451 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv71577 M 24 GOLGA3 nsv53567 12 131892228 131892309 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv72145 M 24 GOLGA3 nsv455812 12 131900071 131973582 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533288 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHFR,GOLGA3 HGDP00232 esv25686 12 131903282 131905717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10095 S 451 0 1 GOLGA3 NA18502 esv1099700 12 131903990 131904056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268982 S 2 0 1 GOLGA3 HuRef esv1352212 12 131922665 131922875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672542 S 2 0 1 "" HuRef nsv899833 12 131923020 131981754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549849 S 6533 0 1 CHFR MS18276 esv1009389 12 131925879 131926770 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587230 S 3 0 1 "" HuRef esv2382110 12 131934407 131934866 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835280 S 1 0 1 CHFR NA18507 esv2463073 12 131954740 131956266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278527 S 1 0 1 CHFR NA18507 esv1097344 12 131955314 131955314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107984 S 2 1 0 CHFR HuRef esv25804 12 131955479 131956095 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9870 S 451 0 2 CHFR NA12239,NA12776 esv2378478 12 131960095 131960476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994386 S 1 0 1 CHFR NA18507 dgv538e1 12 131995294 132244186 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10741,esv555 M 271 0 0 ZNF10,ZNF140,ZNF26,ZNF605,ZNF84 NA18523 nsv470335 12 131997176 132041200 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547016 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF605 HGDP00882 esv22416 12 132004803 132043999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20335 S 451 0 1 ZNF605 NA18523 nsv945 12 132025015 132053282 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6546 S 9 1 0 ZNF605 NA12156 nsv509495 12 132032001 132068954 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618100,nssv623641,nssv619625,nssv620984 M 4 4 0 ZNF605 CHM,NA10860,NA15510,NA18994 nsv9046 12 132036315 132045045 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26338 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF605 NA19221 nsv528637 12 132036485 132041200 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705268 S 2026 0 1 ZNF605 esv1007810 12 132040909 132044986 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564694 S 3 1 0 ZNF605 HuRef nsv899834 12 132042947 132109189 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506715 S 6533 1 0 ZNF26,ZNF605 SP54395 nsv470336 12 132068299 132109189 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547017 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF26 HGDP00700 nsv455813 12 132074147 132105704 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533289 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF26 HGDP00086 dgv219n27 12 132088136 132109189 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455814,nsv455815 M 1557 2 0 ZNF26 HGDP00700,HGDP01259 nsv525745 12 132088136 132125936 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701912 S 2026 1 0 ZNF26,ZNF84 nsv438246 12 132094717 132109400 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470581,nssv470580,nssv470582,nssv470579 M 269 0 4 Samples from several populations that are part of the HapMap project. ZNF26 NA06985,NA10838,NA11832,NA11995 nsv899835 12 132109189 132226160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598873 S 6533 0 1 ZNF10,ZNF140,ZNF84 IS41317 nsv9048 12 132119548 132127378 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24346 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF84 NA18972 nsv899836 12 132128095 132349534 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534006 S 6533 1 0 ZNF10,ZNF140,ZNF268,ZNF84 MS11384 esv27162 12 132147579 132289498 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13550,esv20068 M 451 1 1 ZNF10,ZNF140,ZNF268,ZNF84 NA18523,NA19240 nsv9049 12 132148641 132149906 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24152,nssv24097,nssv23293,nssv22258 M 31 4 0 Samples from several populations that are part of the HapMap project. ZNF84 NA18502,NA18504,NA18517,NA19144 essv8522 12 132149424 132244186 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ZNF10,ZNF140,ZNF84 NA18523 nsv470337 12 132187422 132288869 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547019,nssv547018 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF10,ZNF140,ZNF268 HGDP00608,HGDP00648 nsv518970 12 132187422 132288869 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696438 S 2026 1 0 ZNF10,ZNF140,ZNF268 dgv220n27 12 132194394 132288869 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455817,nsv455816 M 1557 2 0 ZNF10,ZNF268 1780862379_A,HGDP00798 esv2579018 12 132203301 132204550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170358 S 1 0 1 "" NA18507 nsv455818 12 132214574 132288869 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533294 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF10,ZNF268 HGDP00608 nsv9050 12 132227451 132255277 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23425 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF10 NA19240 nsv442301 12 132228514 132288262 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZNF10,ZNF268 nsv826570 12 132255352 132289199 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441450 S 31 1 0 ZNF268 NA18969 nsv514654 12 132270528 132272488 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627121 S 1414 0 0 ZNF268 esv3249 12 132281519 132281844 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25690 S 1 0 1 Single Asian sample YH ZNF268 YH dgv539e1 13 17918001 18201680 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20868,essv139 M 271 0 0 "" NA12145,NA18968 dgv540e1 13 17918001 18358616 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4829,essv20515,esv749 M 271 0 0 ANKRD20A9P NA12716,NA18540 esv24288 13 17929250 17930116 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19853 S 451 18 0 "" NA07037,NA12239,NA12489,NA18502,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv994896 13 17929281 17930116 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586744 S 3 1 0 "" HuRef dgv73e55 13 17960300 18252675 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34400,esv2751130,esv2751131 M 771 3 0 "" BEC_401,BEC_531,NA12716 dgv541e1 13 18008630 18176736 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5491,essv19193,essv16032 M 271 0 0 "" NA12865,NA18501,NA18632 nsv832556 13 18012966 18189013 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450103 S 95 1 0 "" nsv442302 13 18041824 18165293 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25197 13 18065871 18110282 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18108,esv13140,esv19083 M 451 6 0 "" NA07037,NA11931,NA15510,NA18861,NA19147,NA19240 esv1010962 13 18065980 18101852 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586115 S 3 0 1 "" HuRef nsv9051 13 18073177 18081072 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21727 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv9052 13 18094553 18101809 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18911 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv989765 13 18098334 18104295 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564433 S 3 0 1 "" HuRef essv23756 13 18110262 18190758 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11994 nsv507684 13 18118257 18124257 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620525,nssv617850,nssv619095,nssv623129 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1562467 13 18125168 18125168 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676383 S 2 1 0 "" HuRef esv1284420 13 18163947 18163947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092622 S 2 1 0 "" HuRef dgv542e1 13 18204524 18348905 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14247,essv21605,essv18913,essv19467,essv23746,essv8010,essv21081 M 271 0 0 ANKRD20A9P NA10854,NA12155,NA12717,NA12750,NA12813,NA19100,NA19221 essv3828 13 18209780 18306095 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18953 nsv9053 13 18215850 18284290 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24112,nssv24526,nssv21698,nssv26355,nssv24124,nssv20866,nssv24372 M 31 5 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18552,NA18860,NA18972,NA19132,NA19221 esv23813 13 18218946 18275252 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10888,esv10016,esv12545,esv21083,esv18929 M 451 32 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv947 13 18225570 18286700 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6547,nssv9952,nssv9982,nssv2023 M 9 0 4 "" NA12156,NA18507,NA18555,NA18956 esv994751 13 18226211 18248182 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563724 S 3 0 1 "" HuRef esv2593957 13 18237844 18258561 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344878 S 1 0 1 "" NA18507 nsv820782 13 18238118 18273504 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421033 S 1 0 1 "" NA10851 nsv511024 13 18240383 18291046 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618623 S 4 0 0 "" CHM dgv543e1 13 18246805 18306095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18557,essv19362 M 271 0 0 "" NA07019,NA10851 dgv544e1 13 18246805 18358616 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5074,essv5968,essv19316 M 271 0 0 ANKRD20A9P NA12872,NA18552,NA18570 dgv43n17 13 18247140 18326184 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437160,nsv437781 M 60 0 2 ANKRD20A9P NA12752,NA19205 nsv509496 13 18256521 18256521 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619626 S 4 1 0 "" NA10860 nsv436724 13 18259499 18269933 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466726 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv512306 13 18282908 18288494 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624885 S 1 0 1 "" 1 nsv948 13 18331634 18356265 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1137 S 9 1 0 ANKRD20A9P NA19240 nsv507685 13 18343329 18349329 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623130 S 4 1 0 ANKRD20A9P NA18994 nsv9054 13 18343911 18346445 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20526 S 31 1 0 Samples from several populations that are part of the HapMap project. ANKRD20A9P NA10863 esv26453 13 18352251 18361272 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20019 S 451 1 0 "" NA15510 nsv9055 13 18352500 18361665 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23453 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2451358 13 18374140 18375726 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215158 S 1 0 1 "" NA18507 esv1581238 13 18374812 18375114 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366859 S 2 0 1 "" HuRef esv28538 13 18375595 18377188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13656 S 451 0 1 "" NA19257 dgv1546n71 13 18427644 18537078 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899837,nsv899841,nsv899840,nsv899839,nsv899838 M 6533 0 67 LINC00442,PHF2P1 IS30109,IS30134,IS30221,IS30241,IS30325,IS30345,IS30483,IS31218,IS31251,IS31920,IS32518,IS32699,IS32777,IS32806,IS32828,IS33493,IS33616,IS33651,IS33850,IS33865,IS34378,IS34383,IS34658,IS34805,IS35041,IS35236,IS35260,IS35768,IS35911,IS36064,IS36450,IS36527,IS36612,IS36990,IS37346,IS37450,IS37554,IS37702,IS37704,IS37738,IS37979,IS37993,IS38113,IS38216,IS38388,IS38634,IS38736,IS38993,IS39464,IS39475,IS39792,IS40024,IS40342,IS40556,IS40558,IS40622,IS40886,IS40925,IS41818,IS41824,IS41825,IS41840,MS13567,MS15610,MS19502,MS24405,MS25172 nsv455821 13 18439910 18446826 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533295 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00445 nsv471121 13 18439910 18520143 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545383 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00442,PHF2P1 HGDP00056 nsv455822 13 18439910 18524928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533296 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00442,PHF2P1 HGDP00056 esv24943 13 18450453 18469178 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16614,esv13306 M 451 4 0 "" NA06985,NA11993,NA12156,NA15510 dgv1547n71 13 18467428 18524818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899843,nsv899842 M 6533 0 4 LINC00442,PHF2P1 IS33747,IS35622,IS35789,IS37428 nsv455823 13 18509008 18538445 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533297 S 1557 1 0 PHF2P1 NINDS_79 esv999065 13 18516193 18517090 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564998 S 3 1 0 "" HuRef dgv38e180 13 18516304 18528108 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006328,esv1005571 M 3 1 0 PHF2P1 HuRef esv268164 13 18518941 18525039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496438,essv2505282,essv2505724,essv2513338,essv2499613,essv2501736 M 157 6 0 Samples from several populations that are part of the HapMap project. PHF2P1 NA18510,NA18853,NA18861,NA18907,NA19225,NA19239 esv273178 13 18518951 18525048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579984,essv2579244,essv2579412 M 7 3 0 Samples from several populations that are part of the HapMap project. PHF2P1 NA12892,NA19239,NA19240 esv33571 13 18519060 18535941 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98889,essv100689,essv99802 M 51 3 0 PHF2P1 21606,21656,22086 nsv523647 13 18520143 18656799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699448 S 2026 0 1 PHF2P1,TUBA3C esv996942 13 18526203 18544896 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564225 S 3 1 0 PHF2P1 HuRef esv2574858 13 18540002 18541035 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373675 S 1 1 0 PHF2P1 NA18507 esv1399471 13 18540173 18540248 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763963 S 2 0 1 PHF2P1 HuRef esv2017957 13 18547268 18547664 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785992 S 1 0 1 PHF2P1 NA18507 esv22289 13 18574453 18592576 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11184 S 451 0 2 PHF2P1 NA18502,NA19225 nsv826571 13 18597884 18612314 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427786 S 31 1 0 "" AK8 nsv826572 13 18601763 18604646 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424512 S 31 1 0 "" NA18582 nsv522870 13 18605854 18642884 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698525 S 2026 1 0 "" esv1010618 13 18607890 18611767 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563764 S 3 1 0 "" HuRef esv24953 13 18609491 18610542 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19272 S 451 1 10 "" NA07045,NA11931,NA11993,NA12828,NA18523,NA18858,NA19099,NA19114,NA19129,NA19147,NA19225 esv1493784 13 18610045 18610045 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245095 S 2 1 0 "" HuRef esv1769608 13 18610196 18610196 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892370 S 2 1 0 "" HuRef nsv523978 13 18612717 18644610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699833 S 2026 0 1 "" nsv899844 13 18612717 18656799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546834 S 6533 0 1 TUBA3C MS17208 nsv949 13 18616647 18631399 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2897 S 9 1 0 "" NA18555 nsv527819 13 18630017 18632660 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704314 S 2026 0 1 "" nsv455824 13 18630017 18656911 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533298 S 1557 0 1 TUBA3C 1780862081_A esv999605 13 18640828 18642939 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564415 S 3 0 1 "" HuRef nsv528089 13 18644610 18656911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704625 S 2026 0 1 TUBA3C nsv482166 13 18645920 18653936 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558527 S 1 1 0 TUBA3C KB1 nsv826573 13 18646332 18646943 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431578,nssv1440603,nssv1427787 M 31 0 3 TUBA3C AK18,AK8,NA18564 nsv455825 13 18649932 18656911 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533299 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TUBA3C HGDP00122 nsv515683 13 18650291 18656799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684348,nssv657529,nssv660212,nssv658222,nssv673372,nssv676195,nssv670198,nssv682537,nssv664379,nssv684270,nssv688548,nssv680274,nssv658042 M 2026 0 13 TUBA3C dgv1548n71 13 18650291 18728937 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899845,nsv899847 M 6533 2 0 TUBA3C IS30539,IS37060 dgv1549n71 13 18662518 18740852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899846,nsv899848 M 6533 0 4 ANKRD26P3 IS41791,MS11002,MS12471,MS12644 esv2436026 13 18666944 18669725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349366 S 1 0 1 "" NA18507 nsv899849 13 18676328 18778905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556441 S 6533 0 1 ANKRD26P3 MS22008 nsv899850 13 18696532 18793624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504007 S 6533 1 0 ANKRD26P3 SP52160 esv273204 13 18703639 18703724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581138 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv29719 13 18825156 18825924 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20691 S 451 0 1 "" NA19147 esv1005009 13 18825511 18825511 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571649 S 3 1 0 "" HuRef esv1458499 13 18825887 18825887 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197613 S 2 1 0 "" HuRef nsv511025 13 18840953 18891745 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621620 S 4 0 0 "" NA15510 nsv510326 13 18847521 18853521 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624134,nssv618381,nssv622223 M 4 0 3 "" CHM,NA10860,NA18994 nsv899851 13 18862800 18964736 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504008 S 6533 1 0 TPTE2 SP52160 nsv521073 13 18870233 18880162 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697769 S 2026 1 0 "" nsv510327 13 18871424 18877424 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618382,nssv622224,nssv624135 M 4 0 3 "" CHM,NA10860,NA18994 nsv469566 13 18874331 19030818 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649678 M 265 0 0 Samples from several populations that are part of the HapMap project. TPTE2 esv1790163 13 18875800 18875854 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000784 S 2 0 1 "" HuRef nsv428286 13 18881229 19075521 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452350 S 62 0 1 TPTE2 NA19225 nsv523881 13 18884472 19081017 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699723 S 2026 1 0 TPTE2 dgv1550n71 13 18893552 19008195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899852,nsv899853 M 6533 3 0 TPTE2 IS30133,IS30742,IS31693 nsv469567 13 18924331 19074977 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649679 M 265 0 0 Samples from several populations that are part of the HapMap project. TPTE2 esv26631 13 18962057 18990202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17104 S 451 0 1 TPTE2 NA12287 nsv471122 13 18980107 19036930 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545384 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TPTE2 HGDP01408 nsv523915 13 18980107 19036930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699758 S 2026 0 1 TPTE2 nsv899854 13 18985273 19057017 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587728 S 6533 1 0 TPTE2 IS38103 nsv899855 13 18985273 19176687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504009 S 6533 1 0 MPHOSPH8,PSPC1,TPTE2 SP52160 nsv950 13 18996690 19029226 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6548 S 9 1 0 TPTE2 NA12156 nsv523550 13 19001773 19008195 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699328 S 2026 1 0 TPTE2 nsv516945 13 19003471 19407203 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653481,nssv662528,nssv662136,nssv670147,nssv683880,nssv696089,nssv672806,nssv662312,nssv675925,nssv685807,nssv690065,nssv705372,nssv673292,nssv703670,nssv691436,nssv654949 M 2026 5 11 MPHOSPH8,PSPC1,TPTE2,ZMYM5 nsv899856 13 19029796 19150093 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560375 S 6533 1 0 MPHOSPH8,PSPC1 MS24450 nsv899857 13 19081017 19361867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561155 S 6533 1 0 MPHOSPH8,PSPC1,ZMYM5 MS24867 nsv826574 13 19147607 19148789 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430867 S 31 0 1 PSPC1 AK16 nsv455826 13 19172844 19338020 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533300 S 1557 0 1 PSPC1,ZMYM5 1780862415_A dgv1551n71 13 19192196 19372771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899859,nsv899858,nsv899861 M 6533 0 3 PSPC1,ZMYM5 IS31679,IS40819,IS41634 nsv899860 13 19216668 19334506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509472 S 6533 0 1 PSPC1,ZMYM5 SP54792 dgv1552n71 13 19231071 19275448 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899862,nsv899863 M 6533 0 2 PSPC1 SP56013,SP57469 nsv899865 13 19318175 19372771 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558644 S 6533 1 0 ZMYM5 MS23460 dgv1553n71 13 19318175 19377624 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899864,nsv899867,nsv899866 M 6533 0 5 ZMYM5 IS33665,IS33797,IS38176,IS39473,IS39718 nsv9056 13 19357555 19369675 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26371 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv26064 13 19358189 19369255 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18189 S 451 0 2 "" NA18909,NA19099 esv2421492 13 19360314 19368071 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5110900,essv5087577,essv5053591,essv5057293,essv5023025,essv5041620,essv5063587,essv5056073,essv5102057,essv5094330,essv5089336,essv5080905,essv5003680,essv5012953,essv5003910,essv5005959,essv5105442,essv5006802,essv5151228,essv5083537,essv5099716,essv5130635,essv5150906,essv5160270,essv5110865,essv5114823,essv5058941,essv5149640,essv5038709,essv5147972,essv5022320,essv5144149,essv5082884,essv5088913,essv5148753,essv5123419,essv5009792,essv5091566,essv5072076,essv5078625,essv5102696,essv5118098,essv5075969,essv5048347,essv5104777,essv5143790,essv5087520,essv5106985,essv5128810 M 1184 0 49 "" NA18497,NA18498,NA18511,NA18852,NA18857,NA18909,NA18911,NA19095,NA19097,NA19099,NA19107,NA19109,NA19137,NA19150,NA19151,NA19176,NA19210,NA19211,NA19221,NA19222,NA19223,NA19319,NA19350,NA19379,NA19471,NA19818,NA19828,NA19900,NA19902,NA19909,NA19917,NA19918,NA20334,NA20336,NA20359,NA21301,NA21302,NA21307,NA21311,NA21344,NA21368,NA21391,NA21434,NA21476,NA21524,NA21525,NA21580,NA21632,NA21689 nsv438247 13 19361867 19368071 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470587,nssv470589,nssv470584,nssv470591,nssv470583,nssv470586,nssv470590,nssv470588 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA18856,NA18857,NA19099,NA19100,NA19210,NA19211,NA19221,NA19222 nsv514690 13 19363064 19365552 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628170 S 1414 0 1 "" nsv442663 13 19363397 19367459 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv832557 13 19382575 19554055 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450104 S 95 1 0 ZMYM2 nsv455828 13 19494565 19562036 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533301 S 1557 0 1 ZMYM2 NINDS_152 esv268973 13 19528797 19528882 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513793 S 157 1 0 Samples from several populations that are part of the HapMap project. ZMYM2 NA19143 nsv523961 13 19535140 19562819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699811 S 2026 0 1 ZMYM2 esv2560456 13 19547539 19550418 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236826 S 1 0 1 ZMYM2 NA18507 esv1929634 13 19547951 19549952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878830 S 1 0 1 ZMYM2 NA18507 esv24803 13 19548177 19549772 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11011 S 451 0 5 ZMYM2 NA18502,NA18858,NA18907,NA18916,NA19257 nsv899868 13 19562819 19631403 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544193 S 6533 1 0 GJA3,ZMYM2 MS16309 nsv519367 13 19585179 19585836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658930,nssv656798,nssv663168,nssv655685 M 2026 0 4 "" nsv899869 13 19593554 19645640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558645 S 6533 1 0 GJA3 MS23460 nsv899870 13 19593554 19660956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546835 S 6533 0 1 GJA3,GJB2 MS17208 nsv899871 13 19620066 19710563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539211 S 6533 0 1 GJA3,GJB2,GJB6 MS14260 nsv516427 13 19621127 19623636 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691416,nssv668305 M 2026 0 2 GJA3 nsv899872 13 19625210 19656323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510062 S 6533 0 1 GJA3 SP54956 esv2751132 13 19690082 20018804 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990022,essv6989454,essv6984777,essv6984778,essv6984779,essv6990021 M 771 0 1 CRYL1,GJB6,MIR4499 SPC_179 nsv826576 13 19721998 19727295 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426998,nssv1429062,nssv1426069,nssv1436131,nssv1437710,nssv1433933,nssv1428588 M 31 0 7 "" AK10,AK4,AK6,NA18526,NA18566,NA18949,NA18968 esv1000311 13 19722858 19729052 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564380 S 3 0 1 "" HuRef esv25857 13 19723292 19727144 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17414 S 451 36 2 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821552 13 19724383 19726823 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421034 S 1 0 1 "" NA10851 nsv826577 13 19724722 19726800 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430868 S 31 0 1 "" AK16 nsv899873 13 19780523 19840037 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601099 S 6533 1 0 "" IS41968 nsv527067 13 19808558 19810527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703446 S 2026 0 1 "" nsv524401 13 19810067 19810527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700320 S 2026 0 1 "" esv259791 13 19819538 19819837 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394769,essv2399051,essv2395797,essv2398097,essv2398677,essv2397657,essv2399233,essv2396497,essv2394927,essv2399434,essv2397925,essv2397484,essv2398184,essv2397778,essv2398756,essv2398324,essv2395198,essv2394828,essv2399791 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA12004,NA12144,NA12489,NA18502,NA18508,NA18517,NA18545,NA18858,NA18907,NA18947,NA18949,NA18956,NA19005,NA19093,NA19108,NA19114,NA19129 esv1680496 13 19837593 19837865 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037063 S 2 0 1 "" HuRef dgv314n67 13 19854672 19855575 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826579,nsv826578 M 31 2 0 "" AK2,AK20 dgv1554n71 13 19867210 19993720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899875,nsv899874 M 6533 0 2 CRYL1,MIR4499 MS18387,SP81363 dgv221n27 13 19870553 19993720 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455834,nsv455833 M 1557 0 2 CRYL1,MIR4499 HGDP00814,HGDP00821 esv34984 13 19870700 20014541 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979325,essv6979326,essv6979327,essv6988154,essv6989085 M 771 0 1 CRYL1,MIR4499 NA18529 dgv545e1 13 19870722 20122478 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5594,essv4114,esv548 M 271 0 0 CRYL1,IFT88,MIR4499 NA18529 nsv517163 13 19873269 19875507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653664,nssv652889,nssv653643,nssv678002,nssv675723,nssv671927,nssv672044,nssv686486,nssv660327,nssv659709,nssv672890,nssv659189,nssv661403,nssv683141,nssv693161,nssv686832,nssv657413,nssv663209,nssv673704,nssv679692,nssv679673,nssv681369,nssv662810,nssv656325,nssv672980,nssv658710,nssv671768,nssv663515,nssv659980,nssv663123,nssv660825,nssv676983,nssv674554,nssv659294,nssv659961,nssv675225,nssv659738,nssv654667,nssv693372 M 2026 0 39 "" nsv818947 13 19873269 19993720 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417093 S 112 0 1 CRYL1,MIR4499 NA18529 dgv1555n71 13 19876006 19917650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899877,nsv899876 M 6533 0 3 CRYL1,MIR4499 SP53863,SP56710,SP57469 esv27122 13 19896352 19896937 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16612 S 451 1 0 CRYL1 NA18861 esv1659805 13 19927632 19927632 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096818 S 2 1 0 CRYL1 HuRef esv7898 13 19969626 19969713 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30339 S 1 1 0 CRYL1 SJK esv2066295 13 20022577 20022942 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701623 S 1 0 1 "" NA18507 nsv826580 13 20064520 20064960 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427788 S 31 1 0 IFT88 AK8 nsv832558 13 20082300 20224807 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450105 S 95 0 1 IFT88,IL17D,N6AMT2 esv33630 13 20103150 20110588 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95863 S 51 1 0 IFT88 21911 esv272220 13 20165087 20165412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584815,essv2583438 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv951 13 20225387 20252018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5466 S 9 1 0 N6AMT2,XPO4 NA19129 dgv6e24 13 20229537 20230650 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750593,esv2750653,esv2750523,esv2750537,esv2750583,esv2750518,esv2750706,esv2750573,esv2750598,esv2750611,esv2750509,esv2750671,esv2750477,esv2750490,esv2750502,esv2750507,esv2750513,esv2750533,esv2750536,esv2750549,esv2750551,esv2750563,esv2750567,esv2750574,esv2750600,esv2750607,esv2750616,esv2750629,esv2750636,esv2750651,esv2750658,esv2750672,esv2750676,esv2750683,esv2750696,esv2750700,esv2750703,esv2750712,esv2750718,esv2750719,esv2750731,esv2750749,esv2750759,esv2750776,esv2750631 M 51 45 0 N6AMT2 21603,21606,21616,21618,21634,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22335,22352,22371,22394 esv33549 13 20392802 20392905 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94058 S 51 0 1 "" 21802 nsv9057 13 20415724 20419962 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21377 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv515960 13 20432199 20432752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681852,nssv691059,nssv661294,nssv672045,nssv663466,nssv680626,nssv662313,nssv680340,nssv679711,nssv678065,nssv665475 M 2026 0 11 "" esv25568 13 20432243 20439123 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13023,esv15375,esv17282 M 451 5 1 "" NA18508,NA18858,NA18909,NA19147,NA19190,NA19225 nsv9059 13 20435513 20468871 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26416,nssv24552 M 31 2 0 Samples from several populations that are part of the HapMap project. LATS2 NA18860,NA19221 nsv64790 13 20479744 20479810 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83368 M 24 LATS2 esv1336723 13 20479779 20479779 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901706 S 2 1 0 LATS2 HuRef nsv455835 13 20548501 20585567 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533305 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00005 esv22290 13 20578279 20580087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11101 S 451 0 7 "" NA18502,NA18858,NA18916,NA19099,NA19129,NA19190,NA19257 esv29583 13 20598455 20599287 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15281 S 451 0 1 "" NA19099 nsv899878 13 20613602 20725506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590694 S 6533 1 0 MRP63,SAP18,SKA3 IS38554 esv1278877 13 20613897 20614557 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720576 S 2 0 1 SAP18 HuRef esv28665 13 20625231 20627991 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19657,esv15406 M 451 3 0 SKA3 NA11931,NA12044,NA15510 dgv315n67 13 20625897 20627261 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826583,nsv826584,nsv826582,nsv826581 M 31 10 0 SKA3 AK12,AK14,AK2,AK6,NA18564,NA18566,NA18582,NA18947,NA18968,NA18972 esv32897 13 20626349 20627811 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101600,essv101124,essv93833,essv94451,essv95331,essv97326,essv95834,essv99016,essv92907,essv96144,essv93508,essv92606,essv96514,essv97724,essv100248,essv100535 M 51 0 16 SKA3 21603,21618,21634,21808,21872,21879,21911,21938,21939,22007,22128,22233,22261,22278,22286,22298 nsv512307 13 20626610 20629346 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624886 S 1 0 1 SKA3 1 esv1003302 13 20628690 20629438 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565577 S 3 0 1 SKA3 HuRef esv2175517 13 20628716 20629416 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757262 S 1 0 1 SKA3 NA18507 esv1007120 13 20628914 20629235 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579894 S 3 0 1 SKA3 HuRef esv1249925 13 20628917 20629239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059553 S 2 0 1 SKA3 HuRef esv8341 13 20628921 20629225 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30782 S 1 0 1 SKA3 SJK esv997322 13 20639052 20640507 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586826 S 3 0 1 SKA3 HuRef nsv826585 13 20639809 20640507 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427000,nssv1433140,nssv1430101 M 31 3 0 SKA3 AK14,AK6,NA18972 dgv316n67 13 20640017 20640584 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826588,nsv826589,nsv826590 M 31 3 0 SKA3 NA18564,NA18582,NA18947 esv33455 13 20640486 20640645 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96977 S 51 0 1 SKA3 21817 nsv64608 13 20640541 20644479 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83186 M 24 SKA3 esv34670 13 20708219 20796168 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978762,essv6986698 M 771 1 0 LOC650794 NA12236 dgv546e1 13 20717264 20796168 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19722,esv1083 M 271 0 0 LOC650794 NA12236 nsv818948 13 20725506 20791151 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415593 S 112 1 0 LOC650794 NA12236 esv1324998 13 20762575 20762635 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766168 S 2 0 1 "" HuRef esv25813 13 20791096 20797439 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15430,esv16036 M 451 0 5 LOC650794 NA06985,NA11931,NA12044,NA12828,NA19114 nsv9060 13 20791561 20799550 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20673,nssv20556 M 31 0 2 Samples from several populations that are part of the HapMap project. LOC650794 NA07048,NA10863 nsv519207 13 20811015 20816844 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696696 S 2026 1 0 "" esv1655888 13 20811166 20811166 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4316871 S 2 1 0 "" HuRef esv992961 13 20848435 20849590 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563615 S 3 1 0 ZDHHC20 HuRef esv28175 13 20849294 20849839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18332 S 451 0 1 ZDHHC20 NA19147 esv1388531 13 20850260 20850260 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954440 S 2 1 0 ZDHHC20 HuRef nsv528507 13 20965681 20999691 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705114 S 2026 1 0 EFHA1 nsv832560 13 20975722 21164191 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450113,nssv1450111,nssv1450107,nssv1450108,nssv1450109,nssv1450110,nssv1450112 M 95 0 7 EFHA1,FGF9 nsv952 13 20979263 21023652 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2024 S 9 0 1 EFHA1 NA18555 nsv953 13 21033977 21068454 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4060 S 9 1 0 EFHA1 NA12878 nsv525610 13 21071795 21081452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701755 S 2026 0 1 EFHA1 nsv955 13 21075758 21120413 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9093 S 9 0 1 EFHA1 NA12156 esv269118 13 21086455 21086794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514571,essv2516680,essv2517439,essv2518533,essv2515995,essv2513957,essv2519490 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11881,NA11918,NA12287,NA12873,NA19143 esv1630982 13 21086494 21086494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074862 S 2 1 0 "" HuRef nsv509497 13 21156261 21217971 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623642,nssv619627 M 4 2 0 FGF9 NA10860,NA18994 nsv899879 13 21173394 21279204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601247 S 6533 1 0 FGF9 IS41992 nsv513381 13 21197918 21198103 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625775 S 1 1 0 "" 1 nsv956 13 21206981 21241142 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9094 S 9 1 0 "" NA12156 esv2096851 13 21215326 21215779 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907956 S 1 0 1 "" NA18507 esv3776 13 21215443 21215652 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26217 S 1 0 1 Single Asian sample YH "" YH esv2476109 13 21217404 21218994 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338079 S 1 0 1 "" NA18507 nsv521733 13 21273922 21281253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694494 S 2026 1 0 "" nsv521330 13 21275341 21281253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697937 S 2026 0 1 "" esv26955 13 21316421 21319732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19709 S 451 0 1 "" NA19099 esv2563337 13 21325014 21325909 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299471 S 1 1 0 "" NA18507 esv1210229 13 21325512 21325512 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783812 S 2 1 0 "" HuRef nsv522035 13 21357507 21369401 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694805 S 2026 1 0 "" esv272649 13 21387773 21388017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583080,essv2584349,essv2583417 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 esv269390 13 21387773 21388040 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576023,essv2541028,essv2546211,essv2536462,essv2570778,essv2568423,essv2545517,essv2523174,essv2531896,essv2577591,essv2548227,essv2520699,essv2547470,essv2529185,essv2564212,essv2547061,essv2532290,essv2562550,essv2537064,essv2541251,essv2542793,essv2534730,essv2549261,essv2559852,essv2531026,essv2567437,essv2563724,essv2572451,essv2568867,essv2578123,essv2533608,essv2567269,essv2566596,essv2555907,essv2523976,essv2568826,essv2571284,essv2574127,essv2532988,essv2525165 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11830,NA11831,NA11881,NA11920,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12716,NA12717,NA12749,NA12828,NA12892,NA18505,NA18507,NA18517,NA18545,NA18550,NA18561,NA18564,NA18570,NA18573,NA18582,NA18603,NA18609,NA18861,NA18940,NA18944,NA18947,NA18948,NA18956,NA19129,NA19147,NA19238,NA19240 nsv957 13 21390437 21423831 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1138 S 9 1 0 "" NA19240 nsv899880 13 21412474 21445878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556753 S 6533 0 1 "" MS22146 esv2441518 13 21420994 21422299 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178186 S 1 0 1 "" NA18507 esv2375539 13 21421346 21422035 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575208 S 1 0 1 "" NA18507 esv2802 13 21421459 21422001 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25243 S 1 0 1 Single Asian sample YH "" YH esv268460 13 21428327 21428663 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516774,essv2517469,essv2517100,essv2514763,essv2515425,essv2518551,essv2515064,essv2516310,essv2515569,essv2516157,essv2514253 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11918,NA11931,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12873,NA12874 esv1276040 13 21428362 21428362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797670 S 2 1 0 "" HuRef nsv899881 13 21428559 21469065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564059 S 6533 0 1 "" IS30149 nsv899882 13 21449419 21470497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583537 S 6533 0 1 "" IS36527 nsv832561 13 21452320 21561832 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450114 S 95 0 1 "" nsv518126 13 21453778 21457190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695544 S 2026 0 1 "" esv268390 13 21454611 21454851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511751,essv2496314,essv2501031,essv2509215,essv2495729,essv2501359,essv2507004,essv2497595,essv2502182 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18511,NA18856,NA18909,NA18916,NA19093,NA19102,NA19147,NA19257 esv1062220 13 21493901 21493901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892082 S 2 1 0 "" HuRef nsv518947 13 21542217 21543461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696414 S 2026 0 1 "" nsv518382 13 21542217 21544474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695813 S 2026 0 1 "" esv2422437 13 21670723 22888451 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161249 S 181 1 0 BASP1P1,SACS,SGCG ND04240 nsv826591 13 21702838 21703295 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438398,nssv1425269,nssv1430102,nssv1439226 M 31 0 4 "" AK14,AK2,NA18951,NA18973 nsv522279 13 21746444 21858163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695060 S 2026 0 1 "" esv28125 13 21761619 21762438 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12361 S 451 1 0 "" NA12749 dgv104n21 13 21766685 21771485 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520677,nsv521430 M 2026 2 0 "" nsv522871 13 21767266 21780871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698526 S 2026 0 1 "" nsv958 13 21798512 21835083 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2025 S 9 0 1 "" NA18555 esv1008175 13 21858156 21859391 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586252 S 3 1 0 "" HuRef esv2433913 13 21952750 21954284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351251 S 1 0 1 "" NA18507 esv994484 13 21952874 21953674 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564437 S 3 0 1 "" HuRef esv1965676 13 21953036 21953724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720468 S 1 0 1 "" NA18507 esv4619 13 21953164 21953570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27060 S 1 0 1 Single Asian sample YH "" YH esv6283 13 21953185 21953514 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28724 S 1 0 1 "" SJK esv991266 13 21953208 21953513 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566104 S 3 0 1 "" HuRef esv1435957 13 21953219 21953526 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800603 S 2 0 1 "" HuRef nsv442303 13 21994827 22004855 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv826592 13 21995256 22003350 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429545 S 31 1 0 "" NA18947 nsv455836 13 22033954 22172512 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533306 S 1557 0 1 "" 1780854123_A esv2651847 13 22067507 22068945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263045 S 1 0 1 "" NA18507 nsv899883 13 22074603 22150146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591756,nssv1577312 M 6533 0 2 "" IS34407,IS39011 nsv525067 13 22119348 22122008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701121 S 2026 0 1 "" nsv517917 13 22129920 22132909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695329 S 2026 0 1 "" esv1731719 13 22146080 22146080 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184267 S 2 1 0 "" HuRef esv2644632 13 22151114 22152038 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265254 S 1 1 0 "" NA18507 dgv1556n71 13 22153141 22387857 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899884,nsv899885 M 6533 2 0 BASP1P1 MS14801,SP58328 nsv959 13 22204300 22229742 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6549 S 9 0 1 "" NA12156 nsv832562 13 22221892 22351914 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450115 S 95 0 1 "" esv28136 13 22223233 22224926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15987 S 451 0 4 "" NA12156,NA12489,NA18508,NA18907 esv1006746 13 22223683 22224299 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586888 S 3 0 1 "" HuRef esv2422502 13 22227699 23854929 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161478 S 181 1 0 BASP1P1,C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,SACS,SGCG,SPATA13,TNFRSF19 ND01934 esv2422445 13 22229982 22632940 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161299 S 181 1 0 BASP1P1 ND04312 dgv74e55 13 22239615 22454615 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751134,esv2751133 M 771 2 0 BASP1P1 BEC_544,BEC_709 nsv526435 13 22255136 22381716 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702738 S 2026 1 0 BASP1P1 dgv1557n71 13 22288487 22344894 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899890,nsv899894,nsv899887,nsv899891,nsv899886 M 6533 0 14 "" IS31074,IS31306,IS31373,IS32841,IS33504,IS33839,IS34407,IS35742,IS36527,IS39475,IS40819,MS11306,MS11467,MS12071 nsv899888 13 22294326 22352112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499095 S 6533 1 0 "" SP50561 dgv1558n71 13 22294326 22387857 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899889,nsv899902,nsv899895 M 6533 0 10 BASP1P1 IS30332,IS33507,IS33864,IS35181,IS35940,IS36098,IS37348,IS38235,IS41634,IS41920 esv27828 13 22298518 22318631 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17441 S 451 2 0 "" NA18907,NA19099 nsv818949 13 22300993 22310923 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416670,nssv1416669,nssv1418313 M 112 3 0 "" NA19093,NA19116,NA19120 nsv899892 13 22300993 22325749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588232 S 6533 0 1 "" IS38176 dgv1559n71 13 22300993 22335587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899896,nsv899893,nsv899899 M 6533 0 4 "" IS31553,IS31706,IS35145,SP55021 dgv1560n71 13 22306043 22339271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899898,nsv899897,nsv899903,nsv899901 M 6533 0 10 "" IS31758,IS31837,IS33601,IS33616,IS34908,IS38148,IS40396,MS10311,MS10698,SP54043 nsv899900 13 22310923 22332866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546836 S 6533 0 1 "" MS17208 nsv524128 13 22320522 22327357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700006 S 2026 0 1 "" nsv518408 13 22320522 22381716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695840 S 2026 0 1 BASP1P1 nsv899904 13 22321654 22344894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566282 S 6533 0 1 "" IS30635 nsv899905 13 22321654 22345593 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527079 S 6533 1 0 "" SP58132 nsv832563 13 22335637 22522444 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450116 S 95 1 0 BASP1P1 esv1410726 13 22340940 22340940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719816 S 2 1 0 "" HuRef nsv832564 13 22360492 22514069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450118 S 95 0 1 BASP1P1 nsv517940 13 22365854 22529340 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695352 S 2026 1 0 BASP1P1 esv1426397 13 22372312 22372362 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957413 S 2 0 1 "" HuRef esv5325 13 22402767 23827434 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27766 S 1 0 0 Single Asian sample YH C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,SACS,SGCG,SPATA13,TNFRSF19 YH esv2751135 13 22404648 22673500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984247,essv6984251,essv6984250,essv6984249,essv6984248 M 771 1 0 SGCG BEC_681 esv5381 13 22405663 22405848 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27822 S 1 1 0 Single Asian sample YH "" YH nsv455837 13 22409581 23813551 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533307 S 1557 1 0 C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,SACS,SGCG,SPATA13,TNFRSF19 NINDS_72 nsv525965 13 22409581 23830645 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702179 S 2026 1 0 C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,SACS,SGCG,SPATA13,TNFRSF19 dgv1561n71 13 22413553 23841905 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899909,nsv899906 M 6533 2 0 C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,SACS,SGCG,SPATA13,TNFRSF19 IS37704,SP55132 dgv1562n71 13 22421982 22536210 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899907,nsv899908 M 6533 2 0 "" MS14388,MS14801 dgv1563n71 13 22426685 22706199 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899916,nsv899910,nsv899917 M 6533 3 0 SGCG IS40298,IS41193,SP58328 nsv455838 13 22426685 22762657 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533308 S 1557 1 0 SGCG NINDS_163 nsv899911 13 22426685 23013563 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529123 S 6533 1 0 LINC00327,SACS,SGCG SP81454 nsv960 13 22431215 22476097 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9095 S 9 0 1 "" NA12156 dgv1564n71 13 22437563 22451786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899912,nsv899913 M 6533 0 20 "" SP51030,SP51192,SP51368,SP51477,SP52147,SP52676,SP52782,SP52914,SP54468,SP55264,SP55451,SP55715,SP56816,SP56913,SP57368,SP57478,SP57669,SP80928,SP80957,SP80977 nsv524206 13 22437563 22464586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700093 S 2026 0 1 "" nsv442304 13 22443593 22451522 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818950 13 22443597 22451518 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417357,nssv1417422 M 112 0 2 "" NA18612,NA18952 nsv899914 13 22443597 22451518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502243 S 6533 0 1 "" SP50761 esv2751136 13 22454400 23865515 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981474,essv6981476,essv6981473,essv6981477,essv6987965,essv6987964,essv6981475,essv6989242 M 771 0 1 C1QTNF9,C1QTNF9B,C1QTNF9B-AS1,LINC00327,MIPEP,MIR2276,SACS,SGCG,SPATA13,TNFRSF19 BEC_24 esv2492632 13 22455110 22456847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187232 S 1 0 1 "" NA18507 esv5490 13 22455648 22456082 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27931 S 1 0 1 "" SJK nsv521331 13 22466143 22471475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697938 S 2026 0 1 "" nsv899915 13 22466143 22505697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549140 S 6533 0 1 "" MS18104 nsv509498 13 22469794 22536258 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623643,nssv623644,nssv620985 M 4 2 0 "" NA15510,NA18994 esv999999 13 22475976 22479590 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564700 S 3 1 0 "" HuRef esv1004603 13 22490027 22490737 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586928 S 3 0 1 "" HuRef nsv510576 13 22503236 22536258 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618898 S 4 0 1 "" NA10860 dgv44n17 13 22523664 22536210 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437162,nsv437161 M 60 0 2 "" NA06991,NA07029 nsv961 13 22527013 22536224 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4061 S 9 0 1 "" NA12878 esv28447 13 22529624 22535471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16939,esv20590 M 451 0 7 "" NA07037,NA11894,NA11931,NA11993,NA12776,NA12828,NA15510 nsv498807 13 22530435 22535303 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585668 S 9 0 1 "" nsv514691 13 22530512 22535288 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628171 S 1414 0 1 "" esv2421540 13 22530678 22531515 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5035445,essv5141658,essv5051852,essv5063095,essv5152165,essv5072281,essv5115068,essv5036459,essv5116534,essv5073506,essv5141737,essv5067546,essv5128891,essv5010840,essv5084837,essv5099442,essv5054672,essv5143834,essv5151471,essv5136845,essv5121002,essv5115437,essv5020671,essv5142914,essv5103054,essv5078373,essv5017603,essv5077190,essv5114687,essv5121145,essv5121274,essv5120859,essv5031062,essv5007061,essv5059307,essv5096386,essv5092146,essv5015931,essv5041142,essv5016252,essv5028111,essv5053409,essv5141489,essv5049864,essv5029074,essv5033423,essv5115011,essv5150724,essv5104881,essv5035616,essv5039964,essv5160173,essv5059969,essv5137686,essv5020027,essv5065181,essv5080168,essv5057038,essv5084727,essv5054743,essv5113223,essv5047958,essv5095190,essv5123201,essv5085051,essv5078588,essv5009852,essv5157522,essv5027030,essv5150939,essv5051888,essv5095648,essv5103707,essv5084488,essv5048545,essv5150883,essv5110621,essv5034310,essv5046197,essv5057932,essv5066248,essv5140854,essv5014251,essv5098721,essv5143784,essv5013037,essv5021316,essv5069706,essv5029574,essv5067048,essv5057358,essv5042568,essv5134351,essv5026800,essv5103978,essv5142157,essv5108336,essv5099129,essv5122164,essv5074223,essv5113383,essv5160307,essv5054127,essv5139961,essv5131082,essv5102554,essv5016795,essv5003281,essv5065402,essv5057498,essv5148628,essv5132236,essv5048265,essv5065727,essv5130509,essv5035643,essv5106914,essv5063024,essv5098637,essv5066191,essv5149861,essv5099044,essv5012977,essv5123594,essv5095469,essv5098089,essv5118021,essv5108287,essv5151027,essv5040917,essv5077483,essv5049991,essv5010716,essv5125864,essv5031614,essv5016170,essv5130117,essv5088790,essv5139968,essv5084575,essv5075989,essv5010491,essv5104756,essv5129781,essv5037755,essv5129510,essv5031116,essv5105419,essv5046119,essv5160847,essv5007369,essv5078202,essv5034564,essv5021760,essv5088079,essv5060186,essv5017608,essv5030163,essv5076063,essv5136347,essv5077648,essv5110502,essv5096538,essv5091269,essv5102886,essv5070659,essv5014336,essv5050021,essv5094393,essv5061427,essv5049840,essv5060112,essv5127436,essv5103932,essv5077084,essv5101259,essv5026240,essv5148656,essv5104613,essv5060161,essv5114736,essv5013908,essv5140226,essv5046844,essv5052938,essv5042515,essv5155887,essv5125476,essv5142505,essv5096474,essv5043668,essv5010848,essv5153056,essv5008540,essv5007502,essv5046669 M 1184 0 196 "" NA06984,NA06986,NA06991,NA06993,NA06994,NA06995,NA06997,NA07022,NA07029,NA07037,NA07055,NA07056,NA07435,NA10835,NA10836,NA10837,NA10839,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10863,NA11840,NA11843,NA11891,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA12005,NA12045,NA12144,NA12145,NA12234,NA12248,NA12264,NA12273,NA12342,NA12386,NA12399,NA12707,NA12716,NA12739,NA12740,NA12748,NA12750,NA12751,NA12762,NA12766,NA12775,NA12776,NA12778,NA12802,NA12814,NA12815,NA12828,NA12843,NA12864,NA12872,NA12873,NA12878,NA12892,NA19440,NA19463,NA19625,NA19649,NA19657,NA19663,NA19664,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19686,NA19713,NA19714,NA19719,NA19725,NA19749,NA19751,NA19762,NA19770,NA19774,NA19775,NA19780,NA19781,NA19782,NA19784,NA19794,NA19796,NA19901,NA19902,NA19904,NA19921,NA19985,NA20279,NA20282,NA20287,NA20288,NA20317,NA20348,NA20356,NA20504,NA20505,NA20512,NA20515,NA20517,NA20521,NA20522,NA20525,NA20527,NA20528,NA20534,NA20535,NA20538,NA20540,NA20542,NA20543,NA20544,NA20582,NA20589,NA20752,NA20753,NA20754,NA20755,NA20757,NA20759,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20774,NA20778,NA20785,NA20792,NA20795,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20806,NA20807,NA20808,NA20809,NA20810,NA20813,NA20828,NA20846,NA20847,NA20875,NA20877,NA20881,NA20882,NA20885,NA20895,NA20896,NA20900,NA20903,NA21089,NA21090,NA21092,NA21094,NA21097,NA21098,NA21101,NA21104,NA21109,NA21111,NA21137,NA21142,NA21311,NA21318,NA21359,NA21363,NA21367,NA21408,NA21423,NA21510,NA21513,NA21520,NA21620,NA21716,NA21718,NA21719,NA21768 nsv899918 13 22560702 22925251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539622 S 6533 1 0 SACS,SGCG MS14388 esv273143 13 22560752 22561222 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580395 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv24133 13 22573455 22574035 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17813 S 451 1 0 "" NA12156 esv1007115 13 22573678 22573800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585732 S 3 0 1 "" HuRef esv1661318 13 22573745 22573868 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832435 S 2 0 1 "" HuRef dgv105n21 13 22593531 22595841 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521760,nsv523714 M 2026 2 0 "" nsv899919 13 22608625 23193793 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590017 S 6533 1 0 LINC00327,SACS,SGCG,TNFRSF19 IS38444 nsv520725 13 22629386 22815281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697577 S 2026 0 1 SACS,SGCG nsv517054 13 22659882 22664935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658620,nssv653698,nssv666817,nssv689036 M 2026 0 4 SGCG esv22115 13 22662388 22667266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20275 S 451 0 2 SGCG NA07045,NA12414 esv259931 13 22670015 22670385 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395253,essv2395619,essv2397685,essv2395745,essv2400080,essv2398373,essv2398698 M 144 0 0 Samples from several populations that are part of the HapMap project. SGCG NA18499,NA18501,NA18502,NA18853,NA18861,NA19093,NA19190 nsv471123 13 22680577 22717181 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545385 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCG HGDP00553 nsv899920 13 22816767 22882431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595691 S 6533 1 0 SACS IS40298 nsv521020 13 22841526 22866485 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697739 S 2026 1 0 SACS nsv899921 13 22855514 23050519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535360 S 6533 0 1 LINC00327,SACS,TNFRSF19 MS12180 nsv899922 13 22866485 22905495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599425 S 6533 0 1 SACS IS41634 nsv521022 13 22868859 22922344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697740 S 2026 0 1 SACS nsv455840 13 22894197 22925634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533309 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SACS HGDP00670 nsv832565 13 22934554 23112858 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450119 S 95 1 0 LINC00327,TNFRSF19 esv272271 13 22935184 22935519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584243,essv2583857 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv899923 13 22942943 23099883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539623 S 6533 1 0 LINC00327,TNFRSF19 MS14388 esv2647023 13 22954664 22956508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321270 S 1 0 1 LINC00327 NA18507 esv2329718 13 22955481 22956178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588908 S 1 0 1 LINC00327 NA18507 esv7554 13 22955646 22955967 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29995 S 1 0 1 LINC00327 SJK esv1587163 13 22955656 22955988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229313 S 2 0 1 LINC00327 HuRef nsv64693 13 22955657 22955988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83271 M 24 LINC00327 nsv899924 13 22976355 23164521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581607 S 6533 1 0 TNFRSF19 IS35667 dgv1565n71 13 23050519 23525618 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899925,nsv899926 M 6533 2 0 C1QTNF9B,C1QTNF9B-AS1,MIPEP,TNFRSF19 MS14388,SP81454 nsv962 13 23114191 23160175 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6551 S 9 0 1 TNFRSF19 NA12156 nsv521023 13 23153384 23167820 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694413 S 2026 1 0 "" esv24226 13 23185850 23186892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19424 S 451 0 1 "" NA19257 nsv899927 13 23214951 23338135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590018 S 6533 1 0 MIPEP IS38444 nsv899928 13 23251403 23314872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558551 S 6533 0 1 MIPEP MS23340 esv21543 13 23302939 23303959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17628 S 451 1 0 MIPEP NA12239 nsv832566 13 23321564 23483633 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450120 S 95 1 0 C1QTNF9B,C1QTNF9B-AS1,MIPEP nsv899929 13 23374073 23422626 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590019 S 6533 1 0 "" IS38444 esv267566 13 23380718 23380803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519230,essv2514355 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12874 nsv518839 13 23381053 23413162 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696292 S 2026 0 1 "" nsv523820 13 23386126 23388921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699651 S 2026 0 1 "" nsv899930 13 23402955 23451168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583107 S 6533 0 1 "" IS36258 nsv518890 13 23419485 23427566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696348 S 2026 0 1 "" esv1357990 13 23428061 23428061 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065340 S 2 1 0 "" HuRef nsv899931 13 23478540 23528003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534994 S 6533 1 0 "" MS11886 nsv899932 13 23478540 23826468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539625 S 6533 1 0 C1QTNF9,MIR2276,SPATA13 MS14388 esv28101 13 23524204 23526499 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20330 S 451 3 0 "" NA06985,NA12239,NA18858 esv28988 13 23529623 23531048 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16220 S 451 0 1 "" NA07037 nsv899933 13 23534810 23559833 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540314 S 6533 1 0 "" MS14801 nsv516361 13 23555042 23557212 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691642,nssv658427,nssv674301,nssv667769 M 2026 0 4 "" nsv899934 13 23556356 23616406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529125 S 6533 1 0 "" SP81454 nsv899935 13 23587895 23616406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540315 S 6533 1 0 "" MS14801 esv2422202 13 23595584 23788928 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161486 S 181 1 0 C1QTNF9,MIR2276,SPATA13 ND04312 nsv509499 13 23599947 23640950 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623645 S 4 1 0 MIR2276,SPATA13 NA18994 nsv507686 13 23602794 23608794 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620526,nssv617851 M 4 2 0 "" CHM,NA15510 esv2242475 13 23608764 23609458 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541200 S 1 0 1 "" NA18507 esv9381 13 23608976 23609273 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31822 S 1 0 1 "" SJK esv2751137 13 23625026 23854056 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984255,essv6984254,essv6984253,essv6984252,essv6988776 M 771 1 0 C1QTNF9,MIR2276,SPATA13 BEC_681 nsv899936 13 23628819 23826468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529126 S 6533 1 0 C1QTNF9,MIR2276,SPATA13 SP81454 nsv899937 13 23632142 23672251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540316 S 6533 1 0 MIR2276,SPATA13 MS14801 esv28977 13 23647234 23647888 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14627 S 451 1 0 SPATA13 NA18517 esv1144168 13 23661869 23661869 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248580 S 2 1 0 SPATA13 HuRef esv1137865 13 23662296 23662296 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083915 S 2 1 0 SPATA13 HuRef nsv899938 13 23699309 23907099 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540317 S 6533 1 0 C1QTNF9,PARP4,SPATA13 MS14801 nsv899939 13 23716013 23742856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557988 S 6533 0 1 SPATA13 MS23025 nsv455842 13 23746395 23813551 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533311 S 1557 1 0 C1QTNF9,SPATA13 NINDS_163 nsv899940 13 23772926 23826468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543633 S 6533 0 1 C1QTNF9,SPATA13 MS16153 nsv832567 13 23775119 23992871 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450121,nssv1450122 M 95 0 2 C1QTNF9,PARP4,SPATA13 esv27381 13 23798029 23799959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17918 S 451 1 0 "" NA11993 nsv521634 13 23802315 23860983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694468 S 2026 0 1 "" esv1062875 13 23828822 23828822 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146012 S 2 1 0 "" HuRef esv2751138 13 23829981 23906630 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983117,essv6983118 M 771 1 0 PARP4 BEC_544 esv23016 13 23843397 23844195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10389 S 451 0 1 "" NA12489 nsv520280 13 23858000 23860983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697323 S 2026 0 1 "" dgv547e1 13 23927295 23948923 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23712,esv1192 M 271 0 0 PARP4 NA12740 nsv64523 13 23927645 23927645 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83101 M 24 PARP4 nsv899941 13 23947847 24503269 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548987 S 6533 1 0 ATP12A,CENPJ,PARP4,RNF17,TPTE2P1,TPTE2P6 MS17970 nsv832568 13 23994523 24215466 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450123 S 95 1 0 ATP12A,TPTE2P6 esv2519527 13 23994559 23995440 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222736 S 1 1 0 "" NA18507 esv1152049 13 23995069 23995069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644314 S 2 1 0 "" HuRef esv2751139 13 24001620 24124107 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983702,essv6983701,essv6983700,essv6983699 M 771 1 0 TPTE2P6 BEC_614 nsv963 13 24057098 24111621 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9847,nssv9290 M 9 0 2 TPTE2P6 NA18507,NA18517 nsv436164 13 24057990 24075240 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466729 S 2 0 1 Samples from several populations that are part of the HapMap project. TPTE2P6 NA18505 esv23860 13 24059458 24075242 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10329 S 451 0 2 TPTE2P6 NA18517,NA19225 nsv433523 13 24069524 24080467 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463404 S 9 0 1 Samples from several populations that are part of the HapMap project. TPTE2P6 NA18517 nsv471124 13 24078151 24234128 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545386 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP12A HGDP01361 nsv455843 13 24078151 24235300 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533312 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP12A HGDP01361 esv2751140 13 24083375 24189900 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983070,essv6983069,essv6986345 M 771 1 0 ATP12A BEC_539 esv32530 13 24085829 24098727 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98830,essv98587,essv99765,essv99476 M 51 2 2 "" 21606,22085,22086,22335 dgv222n27 13 24098597 24147088 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455844,nsv455845 M 1557 2 0 "" HGDP00900,NINDS_231 esv2751141 13 24107589 24139746 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983923,essv6987445 M 771 1 0 "" BEC_734 nsv525938 13 24129635 24139241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702144 S 2026 0 1 "" nsv527317 13 24130217 24130548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703742 S 2026 0 1 "" esv32615 13 24132159 24132608 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100708 S 51 0 1 "" 21656 nsv528064 13 24162037 24167407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704600 S 2026 0 1 ATP12A esv2499767 13 24168130 24169458 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232368 S 1 0 1 ATP12A NA18507 esv1956864 13 24168381 24169078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787768 S 1 0 1 ATP12A NA18507 esv3452 13 24168504 24169022 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25893 S 1 0 1 Single Asian sample YH ATP12A YH esv1009925 13 24168552 24168883 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583929 S 3 0 1 ATP12A HuRef esv8208 13 24168564 24168907 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30649 S 1 0 1 ATP12A SJK esv2517977 13 24206820 24208441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378758 S 1 0 1 "" NA18507 esv1679299 13 24210026 24210026 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012794 S 2 1 0 "" HuRef esv33422 13 24270935 24271100 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95303,essv94595,essv92947,essv92698,essv97994,essv99352,essv97736,essv100404,essv98341 M 51 0 9 RNF17 21872,21932,21939,21944,22259,22275,22278,22300,22352 esv1358158 13 24354084 24354084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947636 S 2 1 0 "" HuRef nsv442664 13 24407846 24413343 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TPTE2P1 esv28932 13 24408579 24411206 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12009 S 451 0 1 TPTE2P1 NA19114 esv273545 13 24409976 24410061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581215 S 7 1 0 Samples from several populations that are part of the HapMap project. TPTE2P1 NA19240 nsv964 13 24420209 24464918 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5467 S 9 0 1 TPTE2P1 NA19129 dgv106n21 13 24466016 24477336 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv515904,nsv521289 M 2026 0 16 "" nsv818951 13 24469233 24477336 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416674 S 112 0 1 "" NA19116 esv2421760 13 24469233 24478632 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013055,essv5020713,essv5127046,essv5054759,essv5138394,essv5045961,essv5148065,essv5055378,essv5107656,essv5028200,essv5113895,essv5079366,essv5064878,essv5078919,essv5030562,essv5056422,essv5133777,essv5013062,essv5052916,essv5004687,essv5125772,essv5013400,essv5111815,essv5102041,essv5060965,essv5064505,essv5087995,essv5121454,essv5045836,essv5125698,essv5020883,essv5124168,essv5047917,essv5148674,essv5150924,essv5003196,essv5014651,essv5068930,essv5016144,essv5021790,essv5114880,essv5099464,essv5085145,essv5046072,essv5056254,essv5055708,essv5111314,essv5098004,essv5158356,essv5067543 M 1184 0 50 "" NA18520,NA18868,NA19027,NA19035,NA19041,NA19046,NA19116,NA19223,NA19226,NA19307,NA19309,NA19321,NA19328,NA19371,NA19375,NA19380,NA19383,NA19385,NA19404,NA19429,NA19430,NA19431,NA19435,NA19443,NA19456,NA19466,NA19472,NA19473,NA19474,NA19782,NA19784,NA19819,NA20127,NA20289,NA21295,NA21300,NA21434,NA21451,NA21479,NA21480,NA21510,NA21527,NA21583,NA21617,NA21619,NA21635,NA21636,NA21719,NA21740,NA21826 nsv435952 13 24476805 25541515 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466730 S 2 0 0 ATP8A2,FAM123A,MTMR6,NUPL1,PABPC3,SHISA2 NA15510 nsv899942 13 24530399 24623069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548988 S 6533 1 0 PABPC3 MS17970 dgv7e24 13 24567208 24568491 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750715,esv2750478,esv2750555,esv2750579,esv2750630,esv2750637,esv2750650,esv2750656,esv2750770 M 51 0 9 PABPC3 21656,21659,21932,22007,22217,22286,22300,22352,22394 dgv107n21 13 24577445 24579106 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525056,nsv518769 M 2026 0 2 "" nsv818952 13 24577445 24579106 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418159,nssv1418148 M 112 0 2 "" NA06991,NA06993 esv2426415 13 24618515 24620088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176075 S 1 0 1 "" NA18507 esv2407908 13 24618823 24619545 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637218 S 1 0 1 "" NA18507 esv3088 13 24618959 24619492 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25529 S 1 0 1 Single Asian sample YH "" YH esv1003910 13 24619017 24619335 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566371 S 3 0 1 "" HuRef esv7408 13 24619030 24619340 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29849 S 1 0 1 "" SJK nsv513382 13 24631015 24631854 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625776 S 1 1 0 "" 1 esv1694064 13 24631243 24631243 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662894 S 2 1 0 "" HuRef esv1347333 13 24631251 24631251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911726 S 2 1 0 "" HuRef esv1066756 13 24631259 24631259 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070908 S 2 1 0 "" HuRef nsv826593 13 24638710 24639985 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440606 S 31 0 1 "" NA18564 nsv826594 13 24639985 24641332 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440608 S 31 1 0 FAM123A NA18564 nsv899943 13 24679352 24926197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595692 S 6533 1 0 ATP8A2,MTMR6,NUPL1 IS40298 dgv1566n71 13 24721451 24891791 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv899944,nsv899945 M 6533 2 0 ATP8A2,MTMR6,NUPL1 IS41193,MS22584 nsv820184 13 24723053 24724039 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419146 S 2 0 1 MTMR6 AK1 esv2629441 13 24729829 24731266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276457 S 1 0 1 MTMR6 NA18507 nsv526439 13 24758273 24759577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702742 S 2026 0 1 MTMR6 nsv510596 13 24815461 24848969 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622668 S 4 0 1 ATP8A2 NA18994 esv996137 13 24843521 24843572 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579505 S 3 0 1 "" HuRef esv274480 13 24934859 24934969 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584737,essv2583674 M 7 2 0 Samples from several populations that are part of the HapMap project. ATP8A2 NA19239,NA19240 nsv521237 13 24978666 24982161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689377,nssv687130 M 2026 0 2 ATP8A2 nsv442665 13 25108823 25124911 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ATP8A2 nsv521913 13 25124174 25129946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694684 S 2026 0 1 ATP8A2 nsv967 13 25275327 25311098 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9096,nssv9984,nssv4062 M 9 3 0 ATP8A2 NA12156,NA12878,NA18956 nsv509500 13 25277900 25290717 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620986,nssv619628,nssv623646,nssv618101 M 4 4 0 ATP8A2 CHM,NA10860,NA15510,NA18994 esv991446 13 25284611 25286688 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565182 S 3 1 0 ATP8A2 HuRef nsv832569 13 25367541 25592540 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450124 S 95 0 1 ATP8A2,SHISA2 nsv899946 13 25430760 25488362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577993 S 6533 1 0 ATP8A2 IS34630 nsv517013 13 25505667 25514627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691372,nssv682798,nssv673583,nssv667142,nssv691803,nssv653616,nssv689331,nssv672305,nssv668539 M 2026 0 9 "" nsv899947 13 25535596 25559165 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512560 S 6533 1 0 "" SP55553 nsv818953 13 25544425 25553996 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417346 S 112 1 0 "" NA18609 nsv433524 13 25549661 25553654 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463405 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv273583 13 25599169 25599381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584628,essv2583350 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv968 13 25657858 25671385 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1139 S 9 1 0 "" NA19240 esv268417 13 25663336 25663618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540695,essv2546222,essv2523073,essv2577457,essv2554440 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11831,NA11881,NA11931,NA12043 esv24775 13 25668842 25670017 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17699 S 451 0 1 "" NA18861 esv2469087 13 25690616 25692069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378296 S 1 0 1 RNF6 NA18507 esv268333 13 25714232 25714567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514652,essv2516812,essv2519191,essv2517379,essv2518787,essv2517928,essv2515923,essv2514283,essv2517562,essv2515833,essv2513998 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11918,NA12045,NA12872,NA12873,NA12874,NA12878,NA18969,NA19143 esv273309 13 25714232 25714567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581398 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv64848 13 25721699 25721895 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83426 M 24 "" esv268548 13 25848280 25848615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512526,essv2511812,essv2501137,essv2498515,essv2505939,essv2501230 M 157 6 0 Samples from several populations that are part of the HapMap project. CDK8 NA18489,NA18499,NA18516,NA18858,NA18861,NA19093 dgv548e1 13 25898592 26065378 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv201,essv4825 M 271 0 0 WASF3 NA18540 esv22248 13 25936326 25950101 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18623,esv13402 M 451 36 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9061 13 25940659 25945807 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26431 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv994471 13 25942263 25945707 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565738 S 3 1 0 "" HuRef esv1460844 13 25944952 25944952 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329961 S 2 1 0 "" HuRef esv1001797 13 25946091 25951188 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587140 S 3 0 1 "" HuRef nsv819357 13 25946166 25950408 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419618 S 2 1 0 "" AK1 nsv9062 13 25946194 25951381 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19402,nssv20726,nssv21465,nssv26446,nssv21205,nssv21728,nssv23321,nssv21787,nssv22288,nssv24638,nssv18941,nssv20703,nssv19862,nssv20810,nssv21699,nssv21629,nssv24178,nssv23481,nssv19219,nssv20898,nssv24398,nssv20364,nssv19145,nssv24138,nssv24150 M 31 25 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv317n67 13 25947932 25950101 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826595,nsv826596 M 31 0 16 "" AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18542,NA18552,NA18564,NA18570,NA18592,NA18947,NA18951,NA18972,NA18973 nsv821553 13 25947932 25950101 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421036 S 1 0 1 "" NA10851 nsv826597 13 26024486 26032437 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428589 S 31 1 0 WASF3 AK10 nsv969 13 26066675 26072204 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9848 S 9 1 0 WASF3 NA18507 nsv970 13 26169342 26204533 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1140 S 9 1 0 "" NA19240 esv1121726 13 26196147 26196196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695501 S 2 0 1 "" HuRef esv28662 13 26201352 26206782 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10969 S 451 2 0 "" NA12414,NA12776 nsv455848 13 26204551 26221607 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533315 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00737 nsv471125 13 26204551 26221607 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545388 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00695 nsv455849 13 26206354 26261688 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533316 S 1557 0 1 GPR12 1780862415_A dgv1567n71 13 26209246 26241960 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899948,nsv899949 M 6533 0 2 GPR12 IS38176,IS40396 nsv899950 13 26221607 26240368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511478 S 6533 0 1 GPR12 SP55021 nsv507687 13 26225396 26231396 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620527 S 4 1 0 GPR12 NA15510 nsv971 13 26226315 26272038 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6552 S 9 0 1 GPR12 NA12156 esv274996 13 26275221 26281017 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585223,essv2585281 M 1250 1 1 "" nsv819258 13 26312597 26313919 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419238 S 2 0 1 "" AK1 esv270286 13 26386087 26387050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565829,essv2575891,essv2541008,essv2571744,essv2521091,essv2526118,essv2542356,essv2536782,essv2544124,essv2523457,essv2577408,essv2570542,essv2548332,essv2521788,essv2525462,essv2520689,essv2547454,essv2558550,essv2564613,essv2553841,essv2565247,essv2530892,essv2539970,essv2557234,essv2578838,essv2558820,essv2536828,essv2553087,essv2541444,essv2542681,essv2540464,essv2524435,essv2564992,essv2534876,essv2539568,essv2549215,essv2519755,essv2521932,essv2566182,essv2531113,essv2567794,essv2567464,essv2563761,essv2553344,essv2535830,essv2559189,essv2551001,essv2543690,essv2527929,essv2562420,essv2533555,essv2566649,essv2530132,essv2573856,essv2527498,essv2534284,essv2531557,essv2573529,essv2529703,essv2575418,essv2538593,essv2523998,essv2568635,essv2548089,essv2548980,essv2533133,essv2548019,essv2563104 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA10847,NA11829,NA11830,NA11831,NA11840,NA11894,NA11918,NA11919,NA11920,NA11992,NA12004,NA12043,NA12044,NA12045,NA12144,NA12156,NA12716,NA12717,NA12750,NA12751,NA12763,NA12812,NA12873,NA18489,NA18501,NA18510,NA18516,NA18517,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18577,NA18582,NA18603,NA18605,NA18608,NA18638,NA18858,NA18870,NA18907,NA18909,NA18944,NA18948,NA18949,NA18951,NA18952,NA18959,NA18961,NA18964,NA19093,NA19099,NA19108,NA19129,NA19147,NA19210 nsv516802 13 26436496 26437964 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663608,nssv671015 M 2026 2 0 "" esv2474966 13 26444771 26445066 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255576 S 1 1 0 "" NA18507 esv2223633 13 26454919 26455344 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799640 S 1 0 1 "" NA18507 nsv521278 13 26473037 26473287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697882 S 2026 0 1 "" nsv525992 13 26486660 26487593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702215 S 2026 0 1 "" nsv972 13 26513923 26544346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2898,nssv4063 M 9 2 0 USP12 NA12878,NA18555 nsv513383 13 26535867 26536100 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625778 S 1 1 0 "" 1 esv2583727 13 26647587 26649050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167282 S 1 0 1 "" NA18507 nsv523333 13 26655905 26713377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699079 S 2026 0 1 "" nsv520824 13 26750569 26757861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697634 S 2026 0 1 "" esv2373556 13 26759645 26760201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887474 S 1 0 1 "" NA18507 nsv64586 13 26759888 26760201 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83164 M 24 "" esv1526718 13 26886401 26886465 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271388 S 2 0 1 "" HuRef nsv899951 13 26922694 26967853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584193 S 6533 0 1 MTIF3 IS36899 esv994243 13 26967157 26967216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567318 S 3 0 1 "" HuRef esv1497720 13 26967261 26967321 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704644 S 2 0 1 "" HuRef nsv899952 13 27014998 27076525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503701 S 6533 0 1 LNX2 SP52094 esv2048214 13 27091191 27091603 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533476 S 1 0 1 LNX2 NA18507 nsv523599 13 27108301 27109580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699391 S 2026 0 1 POLR1D esv32691 13 27153524 27153670 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93114,essv98128,essv94277 M 51 3 0 "" 21863,22259,22394 nsv512308 13 27165228 27168567 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624887 S 1 0 1 "" 1 esv2579978 13 27229960 27231412 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171232 S 1 0 1 "" NA18507 esv2251651 13 27230821 27231294 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681860 S 1 0 1 "" NA18507 nsv522030 13 27243952 27254322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694799 S 2026 0 1 "" esv1142888 13 27407216 27407216 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319655 S 2 1 0 "" HuRef nsv528978 13 27410585 27412987 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705677 S 2026 1 0 "" esv2491111 13 27429109 27431202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284700 S 1 0 1 "" NA18507 esv2071689 13 27429574 27430810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946027 S 1 0 1 "" NA18507 esv2033021 13 27463230 27463637 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802657 S 1 0 1 "" NA18507 nsv513384 13 27470812 27471686 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625779 S 1 1 0 "" 1 esv1719161 13 27471250 27471250 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346942 S 2 1 0 "" HuRef esv1747477 13 27471262 27471262 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639887 S 2 1 0 "" HuRef esv1232516 13 27471284 27471284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104566 S 2 1 0 "" HuRef esv275421 13 27526918 27539063 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585331 S 1250 0 1 FLT3 esv1336289 13 27537816 27537816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610575 S 2 1 0 FLT3 HuRef nsv973 13 27540575 27572061 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10912 S 9 1 0 FLT3 NA15510 esv34052 13 27546669 27824577 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FLT1,FLT3,PAN3,PAN3-AS1 esv269085 13 27557803 27557888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513825 S 157 1 0 Samples from several populations that are part of the HapMap project. FLT3 NA19143 nsv826599 13 27567511 27568242 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421868 S 31 0 1 FLT3 NA18547 nsv64687 13 27588116 27594207 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83265 M 24 "" esv22596 13 27592129 27594638 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19976 S 451 0 5 "" NA18523,NA19114,NA19129,NA19190,NA19257 nsv525459 13 27692258 27771907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701587 S 2026 0 1 PAN3 dgv1568n71 13 27704513 27767343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899953,nsv899954 M 6533 0 2 PAN3 SP50649,SP55878 esv2644170 13 27737201 27738796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354738 S 1 0 1 PAN3 NA18507 esv1931997 13 27737672 27738378 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540151 S 1 0 1 PAN3 NA18507 esv4105 13 27737829 27738402 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26546 S 1 0 1 Single Asian sample YH PAN3 YH esv1004538 13 27737856 27738180 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579307 S 3 0 1 PAN3 HuRef nsv64676 13 27737857 27738181 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83254 M 24 PAN3 esv8541 13 27737861 27738180 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30982 S 1 0 1 PAN3 SJK esv1220684 13 27737866 27738191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283824 S 2 0 1 PAN3 HuRef nsv455850 13 27889988 27949331 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533317 S 1557 0 1 FLT1 1780854101_A dgv1569n71 13 28009638 28062731 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899955,nsv899956 M 6533 0 3 "" SP51043,SP51104,SP55345 esv2580945 13 28056896 28057211 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263174 S 1 1 0 "" NA18507 esv1220775 13 28056946 28056946 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104890 S 2 1 0 "" HuRef esv1213930 13 28059625 28059625 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599813 S 2 1 0 "" HuRef nsv64855 13 28059628 28059628 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83433 M 24 "" nsv832571 13 28147931 28317562 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450125 S 95 0 1 POMP,SLC46A3 nsv974 13 28181886 28214510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9985 S 9 1 0 SLC46A3 NA18956 esv273084 13 28310071 28310401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584828,essv2583621 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv518610 13 28373872 28384244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694253 S 2026 0 1 "" nsv975 13 28385107 28420092 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1141 S 9 1 0 "" NA19240 esv993338 13 28396564 28397925 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564685 S 3 1 0 "" HuRef nsv520663 13 28413875 28455614 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694393 S 2026 1 0 "" esv270987 13 28436858 28437187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575943,essv2540871,essv2571687,essv2546225,essv2525935,essv2542316,essv2536376,essv2522935,essv2570891,essv2556460,essv2568314,essv2545520,essv2531782,essv2577217,essv2570389,essv2548483,essv2521884,essv2576901,essv2525260,essv2550469,essv2544314,essv2547148,essv2558631,essv2564714,essv2553843,essv2565449,essv2576407,essv2530845,essv2561991,essv2537693,essv2547029,essv2520781,essv2556982,essv2552377,essv2550049,essv2558945,essv2537088,essv2538861,essv2569687,essv2561431,essv2562826,essv2523661,essv2553096,essv2541437,essv2542925,essv2540509,essv2524670,essv2564809,essv2534547,essv2560988,essv2539655,essv2519549,essv2559971,essv2522139,essv2566281,essv2531213,essv2567739,essv2528891,essv2567424,essv2541531,essv2570013,essv2563658,essv2553262,essv2535772,essv2572593,essv2559075,essv2569036,essv2528056,essv2562317,essv2533966,essv2578346,essv2573072,essv2555308,essv2533683,essv2555725,essv2566675,essv2529942,essv2573940,essv2527660,essv2555928,essv2534487,essv2531647,essv2573753,essv2543395,essv2576984,essv2572115,essv2525800,essv2575200,essv2538630,essv2524292,essv2574928,essv2568708,essv2560383,essv2571300,essv2546147,essv2574390,essv2551395,essv2548850,essv2554760,essv2547714,essv2524888 M 157 101 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07347,NA07357,NA11830,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12414,NA12717,NA12750,NA12751,NA12763,NA12812,NA12814,NA12873,NA12874,NA12878,NA12892,NA18498,NA18501,NA18502,NA18511,NA18516,NA18517,NA18519,NA18520,NA18523,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19102,NA19108,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272676 13 28436858 28437187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582034,essv2582959,essv2584132,essv2584845,essv2583500 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1533483 13 28436890 28436890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634087 S 2 1 0 "" HuRef esv1078787 13 28462777 28462777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204901 S 2 1 0 "" HuRef nsv899957 13 28618732 28718422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557098,nssv1590569 M 6533 0 2 MTUS2 IS38535,MS22382 nsv455851 13 28626058 28644494 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533318 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTUS2 HGDP00433 esv24526 13 28648941 28649706 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20967 S 451 0 4 MTUS2 NA18861,NA19129,NA19147,NA19240 nsv819299 13 28650285 28652724 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419429 S 2 0 1 MTUS2 AK1 dgv1570n71 13 28650497 28730613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899958,nsv899959 M 6533 0 4 MTUS2 MS19303,MS21100,MS21124,MS22353 nsv976 13 28657458 28702146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9097 S 9 0 1 MTUS2 NA12156 esv270829 13 28708517 28708602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514353 S 157 1 0 Samples from several populations that are part of the HapMap project. MTUS2 NA12874 esv2404495 13 28789377 28790049 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969818 S 1 0 1 MTUS2 NA18507 esv4893 13 28789528 28790023 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27334 S 1 0 1 Single Asian sample YH MTUS2 YH esv1000206 13 28789562 28789872 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566354 S 3 0 1 MTUS2 HuRef nsv64203 13 28789563 28789873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82781 M 24 MTUS2 esv1638300 13 28789572 28789883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884405 S 2 0 1 MTUS2 HuRef esv8958 13 28789579 28789868 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31399 S 1 0 1 MTUS2 SJK nsv978 13 28826908 28872458 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6553 S 9 0 1 MTUS2 NA12156 esv1626402 13 28847652 28847750 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854941 S 2 0 1 MTUS2 HuRef esv2604500 13 28852143 28853813 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300433 S 1 0 1 MTUS2 NA18507 esv2028726 13 28852559 28853285 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843239 S 1 0 1 MTUS2 NA18507 esv5230 13 28852701 28853247 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27671 S 1 0 1 Single Asian sample YH MTUS2 YH esv992274 13 28852764 28853087 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578521 S 3 0 1 MTUS2 HuRef esv2428654 13 28852765 28853088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391050 S 1 0 1 MTUS2 NA18507 esv9584 13 28852771 28853070 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32025 S 1 0 1 MTUS2 SJK nsv64217 13 28852772 28853095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82795 M 24 MTUS2 esv275414 13 28927818 28934181 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585395 S 1250 0 1 MTUS2 esv270952 13 28929542 28929891 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514614,essv2518687,essv2515166,essv2518360 M 157 4 0 Samples from several populations that are part of the HapMap project. MTUS2 NA11840,NA12045,NA12812,NA19240 esv272935 13 28929542 28929891 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581069 S 7 1 0 Samples from several populations that are part of the HapMap project. MTUS2 NA19240 nsv899960 13 28962014 28995240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548279 S 6533 1 0 MTUS2,SLC7A1 MS17785 esv2592607 13 28963144 28963300 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252026 S 1 0 1 MTUS2 NA18507 esv1003602 13 28970953 28974249 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563529 S 3 0 1 MTUS2 HuRef esv1006674 13 28989232 28993621 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564423 S 3 0 1 SLC7A1 HuRef nsv979 13 29020254 29065821 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6554 S 9 0 1 SLC7A1 NA12156 esv1071553 13 29031488 29031609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070300 S 2 0 1 SLC7A1 HuRef nsv528336 13 29092288 29124498 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704918 S 2026 1 0 "" nsv980 13 29098197 29134915 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9098,nssv4064,nssv2026 M 9 0 3 "" NA12156,NA12878,NA18555 nsv510577 13 29111612 29152316 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620056,nssv618899,nssv617403 M 4 0 3 "" CHM,NA10860,NA15510 esv2638055 13 29113014 29120317 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183507 S 1 0 1 "" NA18507 nsv512309 13 29113342 29120103 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624889 S 1 0 1 "" 1 dgv39e180 13 29113547 29120199 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995490,esv997258 M 3 0 1 "" HuRef esv2273790 13 29113662 29120034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981403 S 1 0 1 "" NA18507 dgv41n16 13 29113767 29120435 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436162,nsv435641 M 2 0 2 "" NA15510,NA18505 esv1506457 13 29113837 29119858 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915255 S 2 0 1 "" HuRef nsv498808 13 29113837 29126124 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585669 S 9 0 1 "" nsv899961 13 29124924 29305273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524212 S 6533 1 0 UBL3 SP54913 esv1537429 13 29307225 29307281 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027711 S 2 0 1 UBL3 HuRef esv275533 13 29347638 29350454 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585756,essv2586056 M 1250 1 1 "" esv993393 13 29356578 29357237 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565657 S 3 1 0 "" HuRef nsv510598 13 29374386 29440798 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620057 S 4 0 1 LOC440131 NA15510 esv2168031 13 29380991 29381441 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625073 S 1 0 1 "" NA18507 esv2209225 13 29475958 29476371 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909512 S 1 0 1 "" NA18507 esv268706 13 29502140 29502225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513649 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv832572 13 29548005 29733256 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450127,nssv1450126 M 95 2 0 KATNAL1 nsv981 13 29601159 29637838 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9099 S 9 0 1 "" NA12156 esv271718 13 29644761 29645054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510702,essv2496498,essv2509038,essv2502165 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18510,NA18522,NA19257 nsv528192 13 29698293 29703992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704749 S 2026 0 1 KATNAL1 nsv521987 13 29703815 29703992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694754 S 2026 0 1 KATNAL1 nsv899962 13 29729422 29761235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515560 S 6533 0 1 KATNAL1 SP56223 nsv455853 13 29809531 29849514 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533320 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00426 HGDP01023 nsv982 13 29812394 29846351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9100 S 9 1 0 LINC00426 NA12156 nsv525675 13 29845612 29846741 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701832 S 2026 0 1 LINC00426 esv2363988 13 29867969 29868465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969326 S 1 0 1 "" NA18507 esv5915 13 29941601 29941826 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28356 S 1 0 1 "" SJK esv1251961 13 29941603 29941826 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934540 S 2 0 1 "" HuRef esv1145802 13 29947043 29947234 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601608 S 2 0 1 "" HuRef nsv832573 13 29951709 30126905 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450129 S 95 1 0 USPL1 nsv983 13 30064114 30075460 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9102 S 9 0 1 "" NA12156 esv2424504 13 30072989 30074524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377673 S 1 0 1 "" NA18507 esv2404395 13 30073462 30074126 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731758 S 1 0 1 "" NA18507 esv2523771 13 30073592 30073926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260075 S 1 0 1 "" NA18507 esv1009447 13 30073594 30073928 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571943 S 3 0 1 "" HuRef esv5573 13 30073594 30073944 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28014 S 1 0 1 "" SJK esv1720901 13 30073600 30073935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775092 S 2 0 1 "" HuRef esv24978 13 30110102 30113166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13630 S 451 0 1 USPL1 NA19240 nsv832574 13 30129333 30294545 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450130 S 95 1 0 ALOX5AP,USPL1 nsv984 13 30219604 30249667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9953 S 9 1 0 ALOX5AP NA18507 nsv985 13 30255225 30293764 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1142,nssv9103 M 9 2 0 "" NA12156,NA19240 esv1007680 13 30300860 30302857 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565323 S 3 1 0 "" HuRef esv2267181 13 30316035 30316672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601310 S 1 0 1 "" NA18507 esv2781 13 30316124 30316605 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25222 S 1 0 1 Single Asian sample YH "" YH esv8653 13 30316214 30316483 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31094 S 1 0 1 "" SJK esv3457 13 30324137 30324662 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25898 S 1 0 1 Single Asian sample YH "" YH nsv9063 13 30413462 30426982 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26460 S 31 0 1 Samples from several populations that are part of the HapMap project. C13orf26 NA19221 dgv549e1 13 30423174 30476563 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1547,esv957 M 271 0 0 C13orf26 NA19012 esv2751142 13 30624178 30804141 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984238,essv6984237,essv6987538 M 771 1 0 B3GALTL,HSPH1 BEC_817 nsv528568 13 30624653 30769663 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705187 S 2026 1 0 B3GALTL,HSPH1 nsv899963 13 30647215 30678988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510063 S 6533 0 1 B3GALTL SP54956 nsv899964 13 30722650 30819004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557886 S 6533 0 1 B3GALTL MS22968 esv1007096 13 30752235 30761768 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563661 S 3 0 1 B3GALTL HuRef nsv899965 13 30769663 30913060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520918 S 6533 1 0 B3GALTL SP51300 nsv64080 13 30780509 30790029 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82658 M 24 B3GALTL nsv899966 13 30789746 30996486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525182 S 6533 1 0 B3GALTL SP56343 esv270309 13 30790003 30790143 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510098,essv2505154,essv2502320,essv2501665,essv2512221,essv2513166,essv2507707,essv2505015,essv2508850,essv2500262,essv2502805,essv2510521,essv2504070,essv2501204,essv2494784,essv2508746,essv2497304,essv2494522,essv2500063,essv2507901,essv2506323,essv2494400,essv2508146,essv2508428,essv2499220,essv2501058,essv2511606,essv2503161,essv2503748,essv2495136,essv2502652,essv2505589,essv2506441,essv2509502,essv2502203,essv2503674,essv2495039 M 157 37 0 Samples from several populations that are part of the HapMap project. B3GALTL NA06986,NA07051,NA11829,NA11995,NA12004,NA12144,NA12155,NA12249,NA12751,NA12828,NA12878,NA12891,NA12892,NA18501,NA18505,NA18516,NA18519,NA18532,NA18545,NA18550,NA18558,NA18564,NA18566,NA18572,NA18579,NA18582,NA18605,NA18856,NA18940,NA18943,NA18960,NA18964,NA18965,NA19005,NA19108,NA19129,NA19257 esv273721 13 30790006 30790180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582151,essv2582389,essv2582774 M 7 3 0 Samples from several populations that are part of the HapMap project. B3GALTL NA12878,NA12891,NA12892 esv267727 13 30807955 30808314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502513,essv2506027,essv2495645,essv2506679,essv2497080 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18523,NA18916,NA19108,NA19190 nsv832575 13 30881769 31046428 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450131 S 95 0 1 "" esv267439 13 30884387 30884472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513674 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv899967 13 30943350 31042160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520919 S 6533 1 0 "" SP51300 nsv986 13 30997594 31029718 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9104 S 9 0 1 "" NA12156 nsv987 13 31019998 31053679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2899 S 9 1 0 "" NA18555 esv1393058 13 31053736 31053736 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892049 S 2 1 0 "" HuRef esv1111739 13 31074784 31075053 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132604 S 2 0 1 "" HuRef esv2581429 13 31133221 31134154 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317113 S 1 1 0 "" NA18507 esv274675 13 31133598 31133874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583907,essv2583548 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269423 13 31133606 31133770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557570,essv2532195,essv2569511,essv2578536,essv2539014,essv2527134,essv2561632,essv2564943,essv2522093,essv2532782,essv2570131,essv2562527,essv2534054,essv2533802,essv2573304,essv2526993,essv2575734,essv2575003,essv2538506,essv2574875,essv2568637,essv2571446,essv2574258,essv2551463 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18505,NA18508,NA18510,NA18519,NA18522,NA18523,NA18558,NA18571,NA18576,NA18593,NA18909,NA18916,NA18944,NA18969,NA19005,NA19099,NA19102,NA19108,NA19138,NA19147,NA19238,NA19240,NA19257 dgv318n67 13 31226016 31226933 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826601,nsv826600 M 31 0 4 RXFP2 AK16,AK8,NA18526,NA18942 nsv820739 13 31226016 31226933 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421037 S 1 1 0 RXFP2 NA10851 esv1279252 13 31231583 31231583 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764092 S 2 1 0 RXFP2 HuRef nsv989 13 31279210 31319797 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5469 S 9 0 1 EEF1DP3 NA19129 esv1602380 13 31361662 31361662 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3789863 S 2 1 0 EEF1DP3 HuRef nsv990 13 31414007 31447069 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2027,nssv9986 M 9 0 2 EEF1DP3 NA18555,NA18956 nsv64730 13 31425584 31426794 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83308 M 24 EEF1DP3 nsv517120 13 31426958 31433996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662451,nssv671702,nssv667650,nssv658763,nssv675926,nssv691103,nssv673783,nssv669147,nssv665744,nssv691712,nssv652710,nssv678141,nssv655131,nssv665533,nssv675404,nssv680666,nssv655900,nssv675500,nssv684967,nssv689603,nssv685756,nssv675052,nssv686549,nssv666447,nssv688418,nssv682651,nssv657272,nssv653019,nssv663467,nssv667211,nssv689171,nssv682838,nssv656670,nssv656967,nssv691622,nssv681524,nssv658873,nssv662137,nssv684592,nssv652527,nssv669497,nssv673334,nssv665116,nssv691766,nssv683881,nssv658010,nssv688220,nssv677358,nssv670732,nssv653816,nssv684395,nssv679582 M 2026 0 52 EEF1DP3 dgv45n17 13 31426958 31438047 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437782,nsv437783 M 60 0 2 EEF1DP3 NA18515,NA18914 nsv899968 13 31426958 31459356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584422 S 6533 0 1 EEF1DP3 IS36990 esv2536115 13 31429944 31437272 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386114 S 1 0 1 EEF1DP3 NA18507 nsv9064 13 31430130 31437931 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21495,nssv24664,nssv23509,nssv24424,nssv18640,nssv26474,nssv21659,nssv24176,nssv24164,nssv20840 M 31 0 10 Samples from several populations that are part of the HapMap project. EEF1DP3 NA12802,NA18502,NA18537,NA18853,NA18860,NA18972,NA19132,NA19173,NA19221,NA19240 esv2162274 13 31430463 31436991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703894 S 1 0 1 EEF1DP3 NA18507 nsv514692 13 31430596 31436602 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628172 S 1414 0 1 EEF1DP3 esv2421804 13 31430622 31436423 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5122573,essv5026250,essv5158925,essv5090805,essv5097419,essv5114948,essv5069784,essv5138586,essv5059979,essv5096830,essv5046315,essv5073134,essv5013229,essv5129337,essv5142041,essv5002056,essv5066352,essv5034386,essv5033420,essv5080464,essv5104351,essv5109972,essv5138292,essv5114023,essv5032204,essv5051561,essv5159146,essv5157071,essv5101137,essv5133211,essv5107811,essv5104274,essv5149776,essv5047612,essv5126182,essv5018644,essv5156699,essv5116330,essv5126452,essv5012277,essv5015010,essv5019566,essv5067295,essv5113114,essv5149984,essv5140986,essv5042796,essv5009188,essv5031678,essv5141385,essv5084044,essv5127498,essv5087057,essv5010222,essv5159613,essv5105928,essv5149198,essv5096680,essv5157138,essv5009960,essv5065842,essv5022760,essv5077361,essv5068010,essv5092976,essv5027811,essv5040116,essv5047206,essv5116262,essv5019542,essv5062246,essv5136630,essv5064359,essv5143657,essv5013067,essv5087593,essv5041754,essv5014380,essv5100092,essv5057364,essv5150750,essv5065428,essv5023441,essv5115665,essv5079353,essv5113817,essv5016560,essv5082825,essv5134793,essv5073174,essv5088708,essv5006388,essv5018397,essv5073259,essv5033245,essv5055535,essv5109142,essv5019352,essv5080417,essv5031113,essv5128728,essv5009351,essv5095133,essv5107201,essv5076440,essv5120177,essv5006935,essv5110919,essv5138264,essv5128239,essv5002256,essv5128257,essv5031554,essv5093423,essv5054753,essv5019639,essv5137070,essv5052073,essv5092172,essv5014599,essv5044316,essv5087409,essv5111113,essv5112613,essv5002882,essv5133500,essv5135850,essv5024487,essv5140053,essv5039969,essv5062007,essv5041551,essv5028790,essv5128811,essv5010663,essv5133050,essv5074505,essv5061691,essv5117114,essv5092550,essv5133664,essv5112374,essv5152207,essv5051424,essv5067990,essv5004457,essv5033887,essv5071164,essv5028600,essv5034265,essv5106772,essv5120566,essv5002556,essv5096780,essv5108709,essv5121146,essv5022448,essv5143477,essv5039578,essv5106637,essv5076208,essv5121509,essv5113466,essv5102316,essv5038402,essv5008666,essv5146630,essv5022400,essv5149211,essv5128846,essv5118993,essv5142955,essv5109460,essv5015839,essv5054483,essv5052981,essv5149451,essv5118902,essv5012639,essv5058348,essv5064568,essv5082541,essv5114267,essv5084994,essv5118447,essv5051078,essv5142147,essv5104485,essv5053453,essv5093929,essv5151615,essv5047882,essv5114481,essv5068845,essv5065581,essv5155639,essv5029310,essv5105398,essv5017424,essv5034146,essv5078753,essv5121672,essv5024140,essv5146426,essv5038300,essv5039599,essv5104975,essv5103305,essv5021368,essv5157523,essv5118172,essv5088159,essv5145912,essv5127500,essv5091254,essv5096424,essv5045774,essv5111486,essv5154949,essv5047124,essv5111857,essv5087627,essv5102904,essv5078187,essv5099678,essv5148151,essv5095506,essv5049063,essv5101974,essv5028201,essv5070710,essv5074925,essv5060687,essv5084496,essv5097619,essv5036250,essv5120893,essv5078724,essv5120468,essv5042118,essv5113622,essv5095619,essv5028322,essv5122855,essv5109480,essv5032417,essv5080947,essv5143763,essv5069504,essv5031221,essv5028633,essv5075020,essv5039563,essv5096479,essv5098682,essv5024121,essv5087352,essv5052466,essv5024185,essv5034457,essv5039784,essv5049413,essv5139916,essv5121126,essv5086827,essv5068360,essv5052793,essv5084124,essv5118723,essv5115929,essv5146328,essv5083024,essv5077202,essv5013615,essv5132517,essv5091186,essv5142078,essv5101684,essv5083398,essv5071949,essv5072090,essv5019674,essv5140933,essv5158252,essv5014709,essv5073765,essv5080072,essv5005044,essv5123747,essv5150141,essv5090425,essv5134764,essv5046516,essv5080247,essv5158707,essv5154773,essv5081003,essv5014480,essv5133797,essv5046505,essv5059620,essv5046061,essv5044430,essv5032919,essv5055453,essv5015138,essv5033029,essv5116681,essv5131487,essv5057213,essv5091832,essv5112858,essv5067743,essv5099148,essv5143424,essv5122584,essv5048909,essv5062910,essv5125983,essv5131394,essv5128651,essv5131960,essv5019044,essv5100709,essv5129523,essv5045773,essv5020791,essv5123278,essv5088162,essv5014039,essv5027537,essv5091278,essv5077921,essv5138564,essv5122102,essv5124352,essv5043364,essv5026163,essv5055428,essv5077454,essv5040750,essv5050582,essv5131366,essv5159238,essv5049491,essv5019062,essv5098475 M 1184 0 347 EEF1DP3 NA06989,NA07345,NA07348,NA10835,NA10856,NA11829,NA11832,NA11995,NA12248,NA12249,NA12546,NA12707,NA12802,NA12814,NA12817,NA12827,NA12892,NA17962,NA17967,NA17968,NA17972,NA17976,NA17980,NA17982,NA17983,NA17988,NA17995,NA17996,NA17999,NA18107,NA18114,NA18118,NA18120,NA18134,NA18135,NA18138,NA18140,NA18143,NA18144,NA18146,NA18148,NA18149,NA18158,NA18159,NA18160,NA18162,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18500,NA18506,NA18507,NA18508,NA18510,NA18515,NA18516,NA18519,NA18524,NA18526,NA18529,NA18534,NA18536,NA18537,NA18542,NA18543,NA18550,NA18555,NA18558,NA18561,NA18566,NA18576,NA18582,NA18593,NA18596,NA18603,NA18616,NA18618,NA18620,NA18623,NA18628,NA18634,NA18636,NA18637,NA18639,NA18641,NA18642,NA18645,NA18670,NA18674,NA18682,NA18685,NA18689,NA18702,NA18704,NA18745,NA18749,NA18853,NA18855,NA18857,NA18858,NA18859,NA18860,NA18867,NA18868,NA18869,NA18871,NA18913,NA18914,NA18934,NA18946,NA18951,NA18953,NA18956,NA18957,NA18965,NA18971,NA18972,NA18973,NA18987,NA18991,NA19001,NA19002,NA19005,NA19009,NA19041,NA19046,NA19054,NA19055,NA19056,NA19059,NA19067,NA19076,NA19086,NA19099,NA19113,NA19114,NA19115,NA19117,NA19119,NA19121,NA19130,NA19132,NA19137,NA19150,NA19152,NA19153,NA19154,NA19159,NA19161,NA19172,NA19173,NA19175,NA19178,NA19180,NA19181,NA19182,NA19183,NA19189,NA19190,NA19191,NA19193,NA19197,NA19198,NA19199,NA19200,NA19202,NA19204,NA19206,NA19208,NA19209,NA19210,NA19214,NA19215,NA19221,NA19222,NA19223,NA19225,NA19238,NA19240,NA19309,NA19313,NA19315,NA19324,NA19327,NA19347,NA19360,NA19371,NA19372,NA19377,NA19380,NA19383,NA19393,NA19399,NA19404,NA19428,NA19435,NA19437,NA19455,NA19457,NA19463,NA19471,NA19473,NA19650,NA19654,NA19656,NA19664,NA19700,NA19712,NA19723,NA19725,NA19727,NA19761,NA19763,NA19773,NA19789,NA19790,NA19819,NA19835,NA19836,NA19909,NA19916,NA19918,NA19919,NA19982,NA19983,NA20126,NA20279,NA20282,NA20291,NA20292,NA20300,NA20301,NA20302,NA20322,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20346,NA20348,NA20364,NA20521,NA20531,NA20534,NA20588,NA20753,NA20765,NA20766,NA20795,NA20796,NA20799,NA20815,NA20851,NA20853,NA20856,NA20869,NA20881,NA20883,NA20885,NA20887,NA20889,NA20890,NA20898,NA20899,NA20906,NA20911,NA21086,NA21099,NA21101,NA21103,NA21111,NA21113,NA21125,NA21297,NA21300,NA21312,NA21313,NA21318,NA21352,NA21356,NA21359,NA21361,NA21364,NA21370,NA21379,NA21385,NA21390,NA21391,NA21402,NA21403,NA21404,NA21414,NA21418,NA21420,NA21423,NA21424,NA21425,NA21436,NA21473,NA21476,NA21485,NA21486,NA21488,NA21489,NA21513,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21574,NA21582,NA21587,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21635,NA21636,NA21650,NA21678,NA21683,NA21689,NA21716,NA21717,NA21718,NA21722,NA21738,NA21739,NA21741,NA21768,NA21784,NA21825 nsv442666 13 31430622 31436423 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EEF1DP3 esv26361 13 31430622 31437038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18873 S 451 0 10 EEF1DP3 NA11995,NA18502,NA18508,NA18523,NA18858,NA19099,NA19114,NA19190,NA19225,NA19240 dgv319n67 13 31430626 31436818 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826602,nsv826603,nsv826604 M 31 0 14 EEF1DP3 AK12,AK14,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18566,NA18582,NA18951,NA18972,NA18973 nsv498809 13 31430644 31436806 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585670 S 9 0 1 EEF1DP3 esv33375 13 31430839 31436343 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93816,essv94422,essv93080,essv94604,essv96070,essv99706,essv94981,essv99150 M 51 0 8 EEF1DP3 21634,21808,21863,21932,22127,22217,22231,22275 nsv526230 13 31431830 31440703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702496 S 2026 0 1 "" nsv526461 13 31431830 31452459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702764 S 2026 0 1 "" esv1704882 13 31472596 31472645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620609 S 2 0 1 "" HuRef nsv818954 13 31504069 31519178 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418502 S 112 0 1 FRY NA19193 esv2060908 13 31514427 31514875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886822 S 1 0 1 FRY NA18507 esv274462 13 31544573 31544888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579311 S 7 1 0 Samples from several populations that are part of the HapMap project. FRY NA19239 nsv519928 13 31570463 31571837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684017,nssv660586,nssv682516,nssv685808,nssv690391,nssv660535,nssv659522,nssv693095 M 2026 0 8 FRY esv273763 13 31604345 31604685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580661 S 7 1 0 Samples from several populations that are part of the HapMap project. FRY NA19238 esv271217 13 31604370 31604698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536767,essv2531883,essv2550847,essv2525391,essv2576289,essv2555055,essv2528540,essv2557529,essv2544741,essv2553049,essv2538344,essv2542895,essv2540424,essv2534616,essv2561181,essv2560099,essv2522275,essv2566314,essv2528923,essv2567405,essv2541877,essv2569984,essv2572210,essv2559250,essv2562258,essv2578253,essv2533566,essv2573860,essv2522359,essv2531651,essv2573368,essv2543032,essv2571979,essv2525774,essv2529715,essv2538829,essv2526372,essv2574887,essv2572776,essv2549626 M 157 40 0 Samples from several populations that are part of the HapMap project. FRY NA11920,NA12006,NA12155,NA12156,NA12814,NA12872,NA12891,NA18499,NA18526,NA18542,NA18547,NA18550,NA18552,NA18561,NA18562,NA18570,NA18571,NA18572,NA18579,NA18582,NA18592,NA18593,NA18609,NA18638,NA18909,NA18940,NA18944,NA18951,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19108,NA19114,NA19138,NA19143,NA19225 nsv832576 13 31795131 31974988 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450132 S 95 1 0 BRCA2,N4BP2L1,N4BP2L2 nsv819799 13 31813308 31813550 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419425 S 2 1 0 BRCA2 AK1 esv271116 13 31820411 31820501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2554246,essv2520266,essv2544617,essv2523819,essv2541175,essv2538224,essv2540222,essv2534589,essv2541560,essv2570114,essv2553305,essv2559181,essv2569186,essv2555752,essv2573872,essv2549126,essv2525031 M 157 17 0 Samples from several populations that are part of the HapMap project. BRCA2 NA07037,NA07357,NA12287,NA12815,NA18526,NA18537,NA18545,NA18547,NA18552,NA18561,NA18592,NA18593,NA18605,NA18638,NA18861,NA18945,NA18951 nsv899969 13 31934660 32205709 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597805 S 6533 1 0 CG030,N4BP2L2,PDS5B IS41105 esv24102 13 32037412 32038253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17494 S 451 0 1 "" NA18523 nsv507688 13 32078525 32084525 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620528,nssv617852 M 4 2 0 PDS5B CHM,NA15510 esv2609555 13 32159394 32160694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195099 S 1 0 1 PDS5B NA18507 nsv832577 13 32165473 32336261 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450133 S 95 1 0 PDS5B nsv899970 13 32182645 32242776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508204 S 6533 0 1 PDS5B SP54620 esv269913 13 32203664 32204008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512534,essv2511831,essv2494351,essv2494995,essv2505362,essv2513517,essv2501496,essv2506888,essv2499053,essv2509444,essv2497574 M 157 11 0 Samples from several populations that are part of the HapMap project. PDS5B NA18489,NA18499,NA18502,NA18520,NA18853,NA18907,NA19093,NA19102,NA19114,NA19129,NA19147 esv2448396 13 32237652 32239199 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181754 S 1 0 1 PDS5B NA18507 nsv528562 13 32450682 32451549 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705178 S 2026 1 0 "" nsv526667 13 32597982 32604179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702997 S 2026 0 1 STARD13 nsv819300 13 32598123 32598453 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418726 S 2 1 0 STARD13 AK1 nsv63989 13 32635764 32635860 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82567 M 24 STARD13 esv1518161 13 32635815 32635815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792807 S 2 1 0 STARD13 HuRef esv2609362 13 32649305 32650677 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279508 S 1 0 1 STARD13 NA18507 esv2410834 13 32649744 32650320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907100 S 1 0 1 STARD13 NA18507 nsv991 13 32689518 32734704 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9105 S 9 0 1 STARD13 NA12156 nsv899971 13 32703718 32740924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557681 S 6533 0 1 STARD13 MS22798 nsv519343 13 32753398 32756313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696802 S 2026 0 1 STARD13 nsv992 13 32825625 32853201 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9106 S 9 1 0 STARD13 NA12156 nsv899972 13 32827518 33179440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502434 S 6533 0 1 STARD13 SP51175 esv259516 13 32832635 32832974 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394233,essv2393934,essv2393650,essv2393982,essv2394348 M 6 0 0 Samples from several populations that are part of the HapMap project. STARD13 NA12878,NA12891,NA19238,NA19239,NA19240 nsv510328 13 32842217 32848217 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618383 S 4 0 1 STARD13 CHM nsv993 13 32859839 32904696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9107 S 9 0 1 STARD13 NA12156 esv1005893 13 32875970 32882895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565249 S 3 0 1 STARD13 HuRef nsv899973 13 32960738 33032809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570409 S 6533 0 1 STARD13 IS31980 nsv832578 13 32981659 33186613 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450134 S 95 1 0 STARD13 esv275565 13 32987753 32988795 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585170 S 1250 0 1 STARD13 nsv994 13 32995401 33041058 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9291 S 9 0 1 STARD13 NA18517 nsv9065 13 33000262 33043918 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20928,nssv23349,nssv24204,nssv23537,nssv21467,nssv18971,nssv24690,nssv24202,nssv21788,nssv21525,nssv20763,nssv19175,nssv21235,nssv21689,nssv20586,nssv21004,nssv21817,nssv22318,nssv24190,nssv24450,nssv19249,nssv19892,nssv20394,nssv18670 M 31 24 0 Samples from several populations that are part of the HapMap project. STARD13 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18860,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19240 nsv899974 13 33002405 33055288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578957,nssv1601125,nssv1554111 M 6533 0 3 STARD13 IS34996,IS41971,MS20616 nsv514693 13 33030832 33035130 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628173 S 1414 0 1 STARD13 esv27387 13 33030861 33033198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16540 S 451 0 1 STARD13 NA19147 esv2421478 13 33032809 33041447 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060468,essv5110418,essv5030070,essv5055536,essv5032162,essv5096447,essv5044157,essv5048274,essv5053195,essv5098432,essv5087924,essv5121928,essv5112763,essv5144624,essv5019267,essv5079843,essv5050911,essv5073339,essv5037687,essv5062935,essv5010203,essv5156815,essv5015510,essv5098141,essv5104938,essv5157221,essv5090151,essv5029745,essv5081768,essv5144397,essv5101460,essv5066414,essv5100789,essv5018670,essv5089778,essv5122462,essv5130983,essv5119719,essv5029851,essv5101714,essv5077495,essv5032565,essv5152786,essv5055958,essv5124797,essv5015077,essv5086139,essv5047725,essv5148936,essv5065179,essv5071051,essv5031200,essv5068537,essv5106677,essv5076690,essv5123775,essv5095216,essv5107952,essv5068087,essv5026601,essv5010355,essv5148990,essv5054934,essv5098591,essv5086101,essv5114818,essv5061592,essv5004245,essv5074411,essv5006669,essv5003250,essv5104896,essv5137867,essv5110995,essv5050415,essv5051092,essv5032113,essv5069513,essv5158664,essv5138918,essv5014345,essv5017173,essv5061950,essv5119115,essv5007389,essv5011461,essv5139800,essv5118666,essv5138393,essv5086937,essv5030037,essv5095250,essv5035560,essv5094252,essv5076999,essv5003445,essv5117845,essv5113132,essv5046496,essv5028252,essv5077682,essv5006626,essv5042900,essv5136097,essv5113650,essv5074112,essv5036580,essv5066789,essv5133098,essv5136412,essv5155475,essv5048550,essv5031531,essv5127010,essv5142526,essv5015903,essv5075715,essv5124751,essv5120241,essv5061666,essv5052750,essv5084353,essv5059946,essv5157447,essv5104880,essv5088549,essv5136038,essv5023501,essv5065455,essv5045528,essv5159799,essv5011464,essv5083933,essv5024973,essv5150035,essv5155615,essv5017526,essv5111442,essv5025990,essv5144711,essv5020684,essv5036724,essv5007491,essv5160546,essv5072046,essv5081105,essv5067725,essv5081502,essv5096335,essv5130512,essv5047544,essv5105357,essv5013357,essv5092190,essv5130932,essv5142255,essv5135431,essv5125081,essv5013479,essv5131873,essv5022826,essv5072636,essv5111548,essv5108766,essv5017223,essv5133802,essv5056014,essv5054991,essv5005918,essv5132063,essv5082382,essv5037815,essv5122254,essv5100571,essv5091368,essv5074803,essv5129343,essv5111185,essv5018758,essv5123525,essv5024458,essv5022822,essv5143419,essv5020722,essv5042036,essv5014026,essv5097856,essv5009349,essv5052465,essv5031690,essv5097346,essv5134488,essv5012762,essv5114055,essv5014125,essv5055285,essv5064024,essv5150884,essv5106198,essv5093397,essv5005786,essv5055476,essv5126960,essv5014069,essv5005403,essv5123631,essv5008008,essv5039527,essv5066783,essv5018068,essv5055484,essv5041022,essv5039830,essv5160680,essv5098969,essv5111409,essv5142108,essv5093736,essv5017468,essv5062776,essv5026590,essv5022245,essv5049656,essv5012783,essv5069981,essv5108352,essv5066572,essv5136109,essv5098680,essv5119006,essv5023145,essv5043938,essv5096974,essv5146937,essv5028340,essv5137526,essv5068181,essv5124624,essv5119329,essv5059527,essv5077236,essv5073531 M 1184 0 242 STARD13 NA06991,NA06993,NA07014,NA07031,NA07037,NA07051,NA10835,NA10836,NA10837,NA10843,NA10846,NA10850,NA11894,NA11920,NA12043,NA12056,NA12144,NA12154,NA12249,NA12272,NA12273,NA12275,NA12282,NA12283,NA12287,NA12376,NA12386,NA12399,NA12546,NA12708,NA12740,NA12751,NA12752,NA12763,NA12767,NA12776,NA12777,NA12778,NA12818,NA12830,NA12874,NA17968,NA17976,NA17981,NA17987,NA17990,NA17993,NA17996,NA17999,NA18105,NA18109,NA18129,NA18133,NA18134,NA18135,NA18138,NA18143,NA18144,NA18146,NA18147,NA18152,NA18153,NA18154,NA18157,NA18160,NA18161,NA18162,NA18166,NA18489,NA18498,NA18503,NA18505,NA18509,NA18510,NA18524,NA18529,NA18534,NA18544,NA18552,NA18558,NA18561,NA18571,NA18576,NA18593,NA18594,NA18602,NA18618,NA18626,NA18633,NA18635,NA18636,NA18643,NA18685,NA18748,NA18853,NA18857,NA18859,NA18862,NA18870,NA18872,NA18912,NA18939,NA18942,NA18944,NA18945,NA18946,NA18952,NA18957,NA18959,NA18961,NA18964,NA18965,NA18971,NA18976,NA18991,NA18993,NA18994,NA18995,NA18998,NA19001,NA19007,NA19010,NA19031,NA19038,NA19057,NA19063,NA19064,NA19076,NA19079,NA19080,NA19099,NA19114,NA19115,NA19121,NA19130,NA19146,NA19148,NA19214,NA19215,NA19221,NA19222,NA19257,NA19258,NA19309,NA19310,NA19318,NA19327,NA19377,NA19379,NA19398,NA19431,NA19438,NA19471,NA19649,NA19650,NA19654,NA19656,NA19658,NA19663,NA19670,NA19682,NA19719,NA19747,NA19755,NA19757,NA19774,NA19775,NA19779,NA19781,NA19789,NA19790,NA19794,NA19796,NA19900,NA20279,NA20281,NA20284,NA20287,NA20288,NA20322,NA20337,NA20340,NA20342,NA20349,NA20359,NA20360,NA20502,NA20504,NA20509,NA20517,NA20518,NA20529,NA20589,NA20755,NA20765,NA20770,NA20772,NA20773,NA20800,NA20804,NA20806,NA20810,NA20812,NA20845,NA20849,NA20850,NA20851,NA20861,NA20870,NA20882,NA20888,NA20889,NA20891,NA20897,NA20900,NA20902,NA20907,NA21089,NA21091,NA21097,NA21099,NA21102,NA21108,NA21295,NA21300,NA21307,NA21359,NA21370,NA21371,NA21399,NA21401,NA21402,NA21404,NA21420,NA21510,NA21522,NA21528,NA21573,NA21587,NA21600,NA21617,NA21635 nsv437163 13 33032809 33046353 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467044 S 60 0 1 Samples from several populations that are part of the HapMap project. STARD13 NA10857 dgv320n67 13 33033466 33042838 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826605,nsv826606 M 31 0 6 STARD13 AK12,AK20,NA18552,NA18592,NA18942,NA18969 nsv436167 13 33033674 33043541 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466733 S 2 0 1 Samples from several populations that are part of the HapMap project. STARD13 NA18505 nsv820553 13 33033676 33042838 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421038 S 1 0 1 STARD13 NA10851 esv21834 13 33033739 33042838 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21200 S 451 29 0 STARD13 NA06985,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12828,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 esv32975 13 33033770 33042587 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98808,essv95085,essv98218,essv94692,essv101414,essv101656,essv94512,essv92874,essv92765,essv96623,essv93288,essv92645,essv99223,essv100614,essv98515 M 51 0 15 STARD13 21606,21721,21772,21791,21805,21909,21932,21939,21944,22011,22170,22233,22275,22298,22352 nsv510578 13 33034220 33060131 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622669 S 4 0 1 STARD13 NA18994 nsv438249 13 33039635 33041447 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470593,nssv470592 M 269 0 2 Samples from several populations that are part of the HapMap project. STARD13 NA10857,NA12043 esv29481 13 33090603 33091366 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17717 S 451 0 1 STARD13 NA07045 nsv521954 13 33195679 33197233 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694723 S 2026 0 1 "" esv2502983 13 33287672 33289088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174084 S 1 0 1 "" NA18507 nsv995 13 33345580 33350195 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6555 S 9 1 0 RFC3 NA12156 nsv996 13 33359981 33391858 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9987 S 9 1 0 RFC3 NA18956 nsv899975 13 33364327 33586581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598635 S 6533 0 1 RFC3 IS41102 esv2504202 13 33377209 33378885 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300368 S 1 0 1 RFC3 NA18507 nsv527943 13 33396922 33404746 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704451 S 2026 0 1 RFC3 nsv528193 13 33407474 33435384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704750 S 2026 0 1 RFC3 esv33813 13 33464480 33464848 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98640 S 51 0 1 "" 22085 esv33137 13 33470977 33475565 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100746 S 51 1 0 "" 21656 nsv899976 13 33476670 33586581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537513 S 6533 1 0 "" MS13232 esv270135 13 33535263 33535629 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510705,essv2496278,essv2494085,essv2495569,essv2510450 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18511,NA18871,NA18916,NA19172 nsv899977 13 33546131 33701625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502435 S 6533 0 1 "" SP51175 esv2431426 13 33572391 33573878 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386952 S 1 0 1 "" NA18507 nsv899978 13 33629033 33861376 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537514 S 6533 1 0 "" MS13232 esv270601 13 33636938 33637235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521332,essv2536447,essv2545259,essv2531852,essv2550613,essv2550447,essv2544262,essv2520663,essv2558506,essv2578106,essv2553649,essv2559589,essv2537183,essv2528537,essv2546983,essv2540019,essv2520830,essv2552418,essv2551685,essv2532041,essv2562559,essv2578668,essv2558863,essv2537097,essv2539187,essv2569640,essv2527233,essv2561680,essv2544601,essv2523591,essv2541392,essv2538375,essv2524555,essv2534574,essv2539852,essv2519691,essv2522140,essv2567876,essv2528699,essv2541838,essv2569952,essv2563689,essv2553279,essv2572435,essv2559284,essv2566870,essv2542014,essv2551056,essv2569046,essv2543414,essv2556131,essv2527784,essv2562244,essv2539270,essv2534063,essv2572987,essv2555269,essv2533527,essv2555784,essv2567193,essv2573874,essv2531623,essv2573438,essv2543178,essv2576935,essv2575208,essv2538545,essv2526556,essv2524109,essv2560914,essv2574842,essv2530337,essv2568568,essv2545242,essv2548066,essv2571472,essv2545820,essv2551615,essv2535933,essv2537826,essv2554669,essv2563195 M 157 82 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA10847,NA11894,NA11920,NA12003,NA12006,NA12155,NA12234,NA12414,NA12716,NA12750,NA12761,NA12763,NA12776,NA12878,NA12891,NA12892,NA18489,NA18498,NA18502,NA18504,NA18505,NA18507,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18555,NA18561,NA18563,NA18566,NA18571,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18951,NA18961,NA18964,NA18965,NA18970,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19141,NA19147,NA19172,NA19210,NA19238,NA19239,NA19257 esv272683 13 33636938 33637235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581809,essv2582516,essv2582879,essv2584136,essv2584582 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 dgv1571n71 13 33700048 33787815 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899979,nsv899983,nsv899982 M 6533 0 3 "" IS35028,IS40902,MS21258 nsv513385 13 33700556 33701630 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625780 S 1 1 0 "" 1 esv1245000 13 33701258 33701258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694290 S 2 1 0 "" HuRef dgv1572n71 13 33716128 33767144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899981,nsv899980 M 6533 0 3 "" MS14396,MS25885,MS25963 dgv550e1 13 33768946 33934202 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22556,essv870,essv15036,essv19981,essv20959,esv34,essv16238,essv19562,essv20574 M 271 0 0 "" NA07056,NA07348,NA12801,NA12813,NA12864,NA19000,NA19129,NA19161 nsv428287 13 33768946 33934202 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452358,nssv452359 M 62 2 0 "" HGDP00449,NA19113 nsv507689 13 33791556 33797556 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619097 S 4 1 0 "" NA10860 nsv997 13 33828527 33861308 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2028 S 9 1 0 "" NA18555 nsv9066 13 33852033 33853639 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19001,nssv18700,nssv20870 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA12802,NA12872,NA18853 nsv9067 13 33862283 33865518 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21555,nssv24476,nssv21497,nssv20958 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18563,NA18564,NA18972 nsv899984 13 33895343 34004975 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537515 S 6533 1 0 "" MS13232 esv33828 13 33906076 33910184 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99225 S 51 1 0 "" 22275 nsv526502 13 33985891 34376341 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702812 S 2026 1 0 "" nsv899985 13 34092226 34200700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537516 S 6533 1 0 "" MS13232 nsv524898 13 34107520 34117778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700907 S 2026 0 1 "" nsv998 13 34112539 34157748 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9108 S 9 0 1 "" NA12156 nsv64868 13 34119473 34126649 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83446 M 24 "" nsv1000 13 34168049 34172162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9109 S 9 1 0 "" NA12156 nsv899986 13 34259806 34326079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581197 S 6533 1 0 "" IS35528 nsv518621 13 34349150 34371956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694254 S 2026 0 1 "" esv2587947 13 34356977 34358806 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361196 S 1 0 1 "" NA18507 esv1917880 13 34357793 34358393 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660015 S 1 0 1 "" NA18507 nsv64616 13 34358003 34358209 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83194 M 24 "" esv1105572 13 34380739 34380739 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166826 S 2 1 0 "" HuRef nsv1001 13 34389350 34420814 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5470 S 9 1 0 NBEA NA19129 esv26103 13 34391907 34401836 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11172 S 451 0 2 "" NA07045,NA18858 nsv510600 13 34452619 34459989 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617404 S 4 0 1 NBEA CHM esv23864 13 34460555 34462757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13208 S 451 0 2 NBEA NA12004,NA12239 nsv64727 13 34482732 34482894 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83305 M 24 NBEA dgv1573n71 13 34501879 34696173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv899988,nsv899987 M 6533 0 3 NBEA MS15199,MS18620,MS18648 esv22696 13 34521394 34544447 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19639,esv13719 M 451 2 2 NBEA NA12044,NA12287,NA15510 esv22371 13 34562609 34609933 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13710 S 451 5 0 NBEA NA07037,NA15510,NA18861,NA19147,NA19240 dgv321n67 13 34566556 34603552 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826608,nsv826610,nsv826607 M 31 3 0 NBEA NA18582,NA18942,NA18968 nsv899989 13 34578458 34796057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583799 S 6533 0 1 NBEA IS36656 esv33135 13 34588252 34598671 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94045,essv95732,essv98936,essv95980,essv93522,essv99734,essv100471,essv98445 M 51 0 8 NBEA 21802,21841,21938,22127,22128,22217,22298,22352 esv2026049 13 34592635 34593153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746674 S 1 0 1 NBEA NA18507 nsv471126 13 34606232 34709439 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545389 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NBEA HGDP00874 esv33929 13 34609906 34609947 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100024 S 51 0 1 NBEA 22086 nsv1002 13 34669914 34714812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9110 S 9 0 1 NBEA NA12156 esv270120 13 34685486 34685571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516387 S 157 1 0 Samples from several populations that are part of the HapMap project. NBEA NA12814 esv269030 13 34788153 34788443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500844,essv2511398,essv2506025,essv2507255,essv2513120 M 157 5 0 Samples from several populations that are part of the HapMap project. NBEA NA10847,NA11830,NA11920,NA18523,NA18870 nsv899990 13 34819077 34950726 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589258 S 6533 1 0 MAB21L1,MIR548F5,NBEA IS38330 esv2558098 13 34820502 34821857 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261808 S 1 0 1 NBEA NA18507 nsv826611 13 34890346 34892184 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429570 S 31 0 1 NBEA NA18947 nsv832579 13 34965270 35144572 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450135 S 95 0 1 MIR548F5,NBEA nsv510329 13 34984903 34990903 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621393,nssv618384,nssv622225 M 4 0 3 MIR548F5,NBEA CHM,NA10860,NA15510 nsv899991 13 35075819 35122934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534581 S 6533 0 1 MIR548F5,NBEA MS11669 nsv832580 13 35099247 35265714 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450136 S 95 0 1 DCLK1,MIR548F5,NBEA esv259745 13 35176543 35176938 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395023,essv2397941,essv2394502 M 144 0 0 Samples from several populations that are part of the HapMap project. MIR548F5 NA18519,NA18907,NA19257 esv24137 13 35181703 35184076 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10388 S 451 5 0 MIR548F5 NA06985,NA11931,NA12044,NA18505,NA18909 nsv507690 13 35191337 35197337 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620530,nssv617853,nssv619098 M 4 3 0 MIR548F5 CHM,NA10860,NA15510 esv993454 13 35220391 35223660 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565816 S 3 1 0 MIR548F5 HuRef esv268414 13 35223270 35224704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508830,essv2502840,essv2512172,essv2501852,essv2498015 M 157 5 0 Samples from several populations that are part of the HapMap project. MIR548F5 NA12878,NA12892,NA19238,NA19239,NA19240 esv274407 13 35223309 35224684 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581788,essv2583151,essv2583918,essv2584488,essv2583689 M 7 5 0 Samples from several populations that are part of the HapMap project. MIR548F5 NA12878,NA12892,NA19238,NA19239,NA19240 esv2650041 13 35232967 35235179 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240631 S 1 0 1 MIR548F5 NA18507 esv2021136 13 35233518 35234872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906780 S 1 0 1 MIR548F5 NA18507 esv4657 13 35336292 35336849 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27098 S 1 0 1 Single Asian sample YH DCLK1,MIR548F5 YH nsv64246 13 35336405 35336722 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82824 M 24 DCLK1,MIR548F5 nsv524786 13 35359168 35359822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700778 S 2026 0 1 DCLK1,MIR548F5 nsv510948 13 35408921 35431356 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622398 S 4 0 0 DCLK1,MIR548F5 NA10860 nsv509501 13 35426107 35431356 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620987 S 4 1 0 DCLK1 NA15510 esv3500 13 35429437 35430446 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25941 S 1 1 0 Single Asian sample YH DCLK1 YH esv4059 13 35430145 35430321 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26500 S 1 0 0 Single Asian sample YH DCLK1 YH esv2772 13 35430337 35430478 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25213 S 1 0 1 Single Asian sample YH DCLK1 YH esv2429709 13 35430387 35431176 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200088 S 1 1 0 DCLK1 NA18507 esv22934 13 35520354 35523704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16267 S 451 0 1 DCLK1 NA12006 esv27255 13 35529328 35538715 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17084 S 451 0 1 DCLK1 NA07037 nsv518674 13 35535010 35536466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696124 S 2026 0 1 DCLK1 nsv522911 13 35535455 35536466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698570 S 2026 0 1 DCLK1 esv267546 13 35555130 35555471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518030 S 157 1 0 Samples from several populations that are part of the HapMap project. DCLK1 NA12872 nsv899992 13 35594494 35659144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539246 S 6533 0 1 CCDC169-SOHLH2,DCLK1,SOHLH2 MS14268 nsv899993 13 35594494 36300440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548025 S 6533 1 0 CCDC169,CCDC169-SOHLH2,CCNA1,DCLK1,RFXAP,SERTM1,SOHLH2,SPG20 MS17678 esv1159695 13 35614816 35614816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782853 S 2 1 0 "" HuRef esv27520 13 35689777 35693319 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18552 S 451 1 0 CCDC169-SOHLH2 NA06985 esv2095309 13 35704597 35705068 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504729 S 1 0 1 CCDC169,CCDC169-SOHLH2 NA18507 esv1749604 13 35716936 35716997 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640218 S 2 0 1 CCDC169,CCDC169-SOHLH2 HuRef nsv525432 13 35736074 35762549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701559 S 2026 0 1 CCDC169,CCDC169-SOHLH2 nsv515635 13 35746187 35762549 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692166,nssv691605,nssv685809,nssv655988,nssv679139,nssv701419,nssv665245,nssv664181,nssv691437,nssv655359,nssv661998 M 2026 6 5 CCDC169,CCDC169-SOHLH2 nsv1003 13 35884821 35895614 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4065 S 9 1 0 "" NA12878 esv2540014 13 35932534 35934045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200712 S 1 0 1 "" NA18507 nsv1004 13 36007958 36039798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9988 S 9 1 0 "" NA18956 esv5786 13 36021855 36021919 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28227 S 1 1 0 "" SJK nsv524665 13 36158707 36164928 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700634 S 2026 0 1 SERTM1 nsv1005 13 36201443 36246237 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9113 S 9 0 1 "" NA12156 nsv522336 13 36203641 36482838 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695116 S 2026 1 0 ALG5,EXOSC8,FAM48A,RFXAP,SMAD9 essv24624 13 36209331 36249756 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10846 dgv551e1 13 36209331 36273415 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20861,esv1288 M 271 0 0 "" NA12145 esv259572 13 36266713 36267012 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394125,essv2393939,essv2393831,essv2393656,essv2394369 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv991603 13 36266800 36266800 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567186 S 3 1 0 "" HuRef esv4316 13 36312337 36312955 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26757 S 1 0 1 Single Asian sample YH "" YH esv6366 13 36312450 36312880 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28807 S 1 0 1 "" SJK esv1527236 13 36312467 36312787 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661163 S 2 0 1 "" HuRef nsv64081 13 36336257 36336322 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82659 M 24 SMAD9 nsv1006 13 36342954 36368226 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2029,nssv5471 M 9 2 0 SMAD9 NA18555,NA19129 esv268171 13 36363198 36363679 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494340,essv2493208,essv2513510,essv2506479,essv2497566,essv2493866 M 157 6 0 Samples from several populations that are part of the HapMap project. SMAD9 NA18502,NA18504,NA18907,NA19108,NA19147,NA19210 esv2454960 13 36445425 36446865 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254331 S 1 0 1 ALG5 NA18507 esv267708 13 36466700 36467036 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512613,essv2496754,essv2511846,essv2510750,essv2509717,essv2496220,essv2501075,essv2493668,essv2494786,essv2506180,essv2505205,essv2500983,essv2495630,essv2501244,essv2509515,essv2497623,essv2510426,essv2512168 M 157 18 0 Samples from several populations that are part of the HapMap project. ALG5 NA18489,NA18498,NA18499,NA18501,NA18508,NA18511,NA18516,NA18517,NA18519,NA18523,NA18853,NA18856,NA18916,NA19093,NA19129,NA19147,NA19172,NA19238 esv272243 13 36466704 36467050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580512 S 7 1 0 Samples from several populations that are part of the HapMap project. ALG5 NA19238 nsv826612 13 36576673 36578292 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432369 S 31 0 1 CSNK1A1L AK20 esv29694 13 36577949 36579397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12579 S 451 0 1 "" NA18505 esv2526295 13 36607754 36609280 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357294 S 1 0 1 "" NA18507 esv1494306 13 36687714 36687714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236291 S 2 1 0 "" HuRef nsv510330 13 36690717 36696717 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624136 S 4 0 1 "" NA18994 nsv899994 13 36714086 36985145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519065 S 6533 1 0 "" SP80936 nsv471128 13 36736294 36778725 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545390 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 esv34109 13 36741819 37174391 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FLJ34747,POSTN,TRPC4 nsv1007 13 36744532 36778831 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2900 S 9 1 0 "" NA18555 esv994923 13 36778511 36778598 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569807 S 3 0 1 "" HuRef nsv64437 13 36778569 36778662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83015 M 24 "" nsv513701 13 36785627 36789787 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626953 S 1 0 0 "" 1 nsv513702 13 36787353 36790773 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626954 S 1 0 0 "" 1 nsv832582 13 36841056 37022252 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450137 S 95 1 0 FLJ34747 esv273617 13 36847954 36848225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580363 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv268962 13 36847968 36848215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565635,essv2540918,essv2542443,essv2536556,essv2523028,essv2556731,essv2577351,essv2548178,essv2535422,essv2544399,essv2529175,essv2558277,essv2564431,essv2565414,essv2564152,essv2528301,essv2546749,essv2540121,essv2527183,essv2544782,essv2542830,essv2524523,essv2560108,essv2522137,essv2532573,essv2563568,essv2559270,essv2551049,essv2556175,essv2562332,essv2578169,essv2555313,essv2567251,essv2531358,essv2572068,essv2526969,essv2529619,essv2575437,essv2523966,essv2574692,essv2571332,essv2574262,essv2551274,essv2536038,essv2538162,essv2554795 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA11829,NA11831,NA11919,NA11920,NA11931,NA11994,NA12043,NA12045,NA12249,NA12414,NA12749,NA12750,NA12751,NA12812,NA12828,NA12891,NA12892,NA18489,NA18522,NA18526,NA18550,NA18555,NA18570,NA18571,NA18576,NA18603,NA18638,NA18858,NA18871,NA18909,NA18940,NA18943,NA18947,NA18961,NA18973,NA19005,NA19093,NA19099,NA19129,NA19138,NA19238,NA19240,NA19257 esv1395995 13 36847994 36847994 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651993 S 2 1 0 "" HuRef esv2582194 13 36920734 36922240 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204244 S 1 0 1 "" NA18507 esv2018021 13 36921128 36921443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995229 S 1 0 1 "" NA18507 nsv832583 13 36928752 37100000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450140,nssv1450138 M 95 0 2 FLJ34747,POSTN dgv108n21 13 36938267 36943165 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521650,nsv519270 M 2026 0 3 "" nsv510595 13 36942468 36976364 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622399 S 4 0 0 "" NA10860 esv26949 13 36943699 36947331 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21202,esv13756 M 451 0 2 "" NA12239,NA12749 nsv512310 13 36945833 36947592 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624890 S 1 0 1 "" 1 nsv511513 13 36946308 36948826 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626133 S 1 0 1 "" 1 nsv826613 13 36946349 36946948 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429096,nssv1421880,nssv1439932,nssv1422893,nssv1433936 M 31 0 5 "" NA18526,NA18537,NA18547,NA18552,NA18968 nsv517476 13 36963446 37019560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661873,nssv659190,nssv662314,nssv653093,nssv665220,nssv678142,nssv679853,nssv675882,nssv677270,nssv679110,nssv685038,nssv682396,nssv652167,nssv665167,nssv688904,nssv670369,nssv678787,nssv662138,nssv689198,nssv652195,nssv688169,nssv686487,nssv678184,nssv667143,nssv687720,nssv681370,nssv667061,nssv653356,nssv676047,nssv663336,nssv682485,nssv659219,nssv662999,nssv680079,nssv652134,nssv667973 M 2026 0 36 FLJ34747 esv33144 13 36967723 36983277 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93919,essv96817,essv101038,essv95052,essv101420,essv96919,essv95492,essv95373,essv97294,essv99026,essv96227,essv99929,essv93362,essv99693,essv98036,essv96432,essv99149,essv98476,essv94292 M 51 17 2 "" 21634,21659,21693,21721,21805,21817,21847,21872,21879,21938,22007,22086,22170,22217,22259,22261,22275,22352,22394 dgv552e1 13 36968044 37011260 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv911,essv9951 M 271 0 0 FLJ34747 NA19204 esv999722 13 36968153 36984790 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565347 S 3 0 1 "" HuRef dgv15n50 13 36968549 36985145 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511522,nsv512311 M 1 0 1 "" 1 dgv223n27 13 36968549 37017096 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455857,nsv455856 M 1557 0 2 FLJ34747 HGDP00912,HGDP00932 nsv471129 13 36968549 37017097 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545391,nssv545394,nssv545395,nssv545393,nssv545392 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ34747 HGDP00691,HGDP00912,HGDP00932,HGDP01201,HGDP01286 nsv9068 13 36969416 36984045 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21847,nssv19462,nssv20793,nssv21729,nssv21585,nssv20896,nssv21265,nssv19031,nssv21034,nssv19205 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA11830,NA12740,NA12872,NA18537,NA18552,NA18942,NA18980 nsv435642 13 36969907 36985769 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466734 S 2 0 1 "" NA15510 esv1005041 13 36970036 36982757 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586007 S 3 0 1 "" HuRef nsv442667 13 36970036 36982757 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv29071 13 36970041 36983553 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11505 S 451 0 11 "" NA11894,NA11931,NA12006,NA12044,NA12239,NA12489,NA12749,NA15510,NA18909,NA19099,NA19225 dgv322n67 13 36972892 36983669 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826614,nsv826615 M 31 0 12 "" AK12,AK16,AK4,NA18526,NA18537,NA18542,NA18552,NA18566,NA18570,NA18582,NA18942,NA18969 nsv514694 13 36973184 36982444 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628174 S 1414 0 1 "" nsv826616 13 36983669 36984282 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427791 S 31 1 0 "" AK8 esv2421985 13 36985145 37017096 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156724,essv5004493,essv5048296,essv5086715,essv5027056,essv5153997,essv5151382,essv5077750,essv5124972,essv5092217,essv5112035,essv5013979,essv5125939,essv5055021,essv5066594,essv5149642,essv5012084,essv5005431,essv5098287,essv5142228,essv5020928,essv5156990,essv5034937 M 1184 0 23 FLJ34747 NA18485,NA18489,NA18923,NA18925,NA19038,NA19179,NA19180,NA19189,NA19191,NA19204,NA19309,NA19473,NA19625,NA19703,NA19705,NA19711,NA20335,NA20356,NA20358,NA21368,NA21415,NA21597,NA21784 nsv455859 13 36991541 37017096 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533323 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ34747 HGDP01286 dgv224n27 13 37000166 37017096 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455860,nsv455861 M 1557 0 2 FLJ34747 HGDP00691,HGDP01201 esv2481608 13 37004631 37006183 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376792 S 1 0 1 "" NA18507 nsv818956 13 37029993 37051351 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417922 S 112 1 0 POSTN NA18852 esv259555 13 37124701 37124953 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394089 S 6 0 0 Samples from several populations that are part of the HapMap project. TRPC4 NA12878 nsv64072 13 37124806 37124806 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82650 M 24 TRPC4 esv1262429 13 37124865 37124865 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688137 S 2 1 0 TRPC4 HuRef nsv64068 13 37124866 37124866 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82646 M 24 TRPC4 nsv826617 13 37162260 37162891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436975 S 31 0 1 TRPC4 NA18542 esv33246 13 37251893 37255951 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100741,essv99740 M 51 2 0 TRPC4 21656,22217 nsv899995 13 37293847 37336843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500293 S 6533 0 1 TRPC4 SP50649 esv268730 13 37339086 37339421 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556901,essv2552671,essv2551738,essv2569559,essv2578600,essv2568976,essv2543697,essv2527916,essv2562383,essv2529759,essv2575580,essv2572671 M 157 12 0 Samples from several populations that are part of the HapMap project. TRPC4 NA18501,NA18502,NA18504,NA18508,NA18510,NA18861,NA18870,NA18907,NA18909,NA19093,NA19099,NA19143 nsv899996 13 37357224 37475056 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568647 S 6533 1 0 "" IS31326 nsv64102 13 37357897 37357897 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82680 M 24 "" nsv899997 13 37378878 37416459 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503725 S 6533 0 1 "" SP52095 nsv899998 13 37378878 37480178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517271 S 6533 0 1 "" SP57238 nsv899999 13 37480178 37534966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574296 S 6533 0 1 "" IS33533 dgv1574n71 13 37506928 37608260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900001,nsv900002,nsv900000 M 6533 0 8 "" IS30537,IS31137,IS31581,IS31651,IS31768,IS36787,IS37226,MS13292 nsv64613 13 37524207 37524266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83191 M 24 "" esv274978 13 37531467 37557853 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585427,essv2586188 M 1250 1 1 "" nsv518259 13 37546788 37559893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695690 S 2026 0 1 "" nsv900003 13 37546788 37608260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583072 S 6533 0 1 "" IS36244 nsv900004 13 37701974 37798435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570164 S 6533 0 1 "" IS31821 nsv507691 13 37706331 37712331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623131,nssv619099,nssv617854,nssv620531 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv900005 13 37779318 37830949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568162 S 6533 0 1 UFM1 IS31205 nsv900006 13 37822871 37868825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542733 S 6533 0 1 UFM1 MS15841 esv1639703 13 37855654 37855654 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178809 S 2 1 0 "" HuRef nsv511512 13 37952598 37961247 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626131 S 1 0 1 "" 1 esv996848 13 37954702 37959043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565813 S 3 0 1 "" HuRef esv2502260 13 37954767 37958844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341207 S 1 0 1 "" NA18507 nsv512312 13 37954830 37958229 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624892 S 1 0 1 "" 1 esv2274077 13 37955142 37958398 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602603 S 1 0 1 "" NA18507 dgv323n67 13 37955309 37958191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826619,nsv826621,nsv826622,nsv826618 M 31 0 21 "" AK10,AK12,AK16,AK18,AK20,AK4,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18570,NA18592,NA18942,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv821013 13 37955309 37958191 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421039 S 1 0 1 "" NA10851 nsv64083 13 37955316 37958201 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82661 M 24 "" esv28066 13 37955318 37958191 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18330 S 451 27 0 "" NA11993,NA11995,NA12004,NA12156,NA12239,NA12414,NA12489,NA12828,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820133 13 37955338 37958221 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419490 S 2 1 0 "" AK1 esv33142 13 37955504 37958191 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98891,essv100761,essv95202,essv98271,essv94843,essv101278,essv96975,essv93026,essv97405,essv101657,essv98975,essv92980,essv92682,essv93686,essv100000,essv95966,essv93367,essv99606,essv97973,essv96543,essv100232,essv100541,essv98453,essv94213 M 51 4 20 "" 21606,21656,21721,21772,21791,21805,21817,21863,21879,21909,21938,21939,21944,21972,22086,22127,22170,22217,22259,22261,22286,22298,22352,22394 nsv832584 13 37972265 38182724 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450141 S 95 1 0 FREM2 esv1710923 13 38027419 38027469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883161 S 2 0 1 "" HuRef esv267625 13 38062892 38063166 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507443,essv2499061,essv2498733 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18912,NA19114,NA19138 nsv832585 13 38131307 38322375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450142 S 95 1 0 FREM2 nsv64239 13 38174701 38174758 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82817 M 24 FREM2 nsv507692 13 38233827 38239827 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619100 S 4 1 0 FREM2 NA10860 esv4433 13 38277229 38281505 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26874 S 1 0 1 Single Asian sample YH FREM2 YH nsv826623 13 38277297 38278543 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438402,nssv1439230,nssv1434667,nssv1428591 M 31 0 4 FREM2 AK10,NA18570,NA18951,NA18973 nsv819985 13 38277522 38284801 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419817 S 2 0 1 FREM2 AK1 esv272674 13 38328847 38329189 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580888 S 7 1 0 Samples from several populations that are part of the HapMap project. FREM2 NA19238 esv271338 13 38328852 38329212 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500866,essv2496684,essv2499365,essv2500170,essv2512566,essv2511823,essv2494135,essv2502959,essv2496351,essv2493634,essv2494888,essv2509013,essv2508302,essv2500688,essv2494402,essv2500141,essv2509983,essv2507507,essv2501067,essv2505945,essv2513460,essv2509209,essv2511597,essv2497872,essv2505476,essv2501439,essv2507022,essv2506472,essv2509489,essv2493555,essv2496896,essv2499688,essv2512120,essv2498032 M 157 34 0 Samples from several populations that are part of the HapMap project. FREM2 NA11830,NA11894,NA11994,NA12006,NA18489,NA18499,NA18502,NA18507,NA18510,NA18517,NA18520,NA18522,NA18561,NA18571,NA18572,NA18573,NA18593,NA18638,NA18856,NA18861,NA18907,NA18909,NA18940,NA18945,NA18952,NA19093,NA19102,NA19108,NA19129,NA19137,NA19190,NA19225,NA19238,NA19240 nsv1008 13 38356830 38366613 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9114 S 9 0 1 FREM2 NA12156 nsv1009 13 38364116 38398627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4066 S 9 1 0 "" NA12878 esv273283 13 38392024 38392327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584083,essv2583594 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv272182 13 38397592 38397817 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580444,essv2579862,essv2580920,essv2579546 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 esv270334 13 38397603 38397906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571754,essv2546455,essv2542487,essv2544214,essv2548527,essv2550434,essv2554018,essv2544350,essv2520474,essv2547416,essv2553663,essv2561827,essv2537557,essv2547111,essv2539219,essv2544832,essv2562878,essv2541123,essv2542974,essv2540375,essv2534565,essv2539653,essv2549336,essv2560155,essv2522281,essv2567931,essv2567458,essv2541501,essv2570142,essv2535497,essv2572595,essv2542144,essv2528020,essv2578235,essv2573011,essv2555354,essv2533513,essv2531388,essv2573518,essv2543131,essv2572147,essv2525822,essv2526708,essv2574594,essv2560208,essv2551321,essv2535909,essv2537730,essv2533378,essv2557908 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA10851,NA11840,NA11881,NA11919,NA11992,NA12045,NA12234,NA12287,NA12414,NA12716,NA12717,NA12763,NA12874,NA12878,NA12892,NA18519,NA18526,NA18532,NA18545,NA18550,NA18552,NA18561,NA18563,NA18564,NA18570,NA18571,NA18577,NA18582,NA18592,NA18593,NA18608,NA18609,NA18856,NA18907,NA18940,NA18942,NA18943,NA18944,NA18961,NA18964,NA18965,NA18973,NA18980,NA19114,NA19138,NA19190,NA19257 nsv520639 13 38423264 38427226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697532 S 2026 0 1 "" nsv509503 13 38423550 38442130 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623647 S 4 1 0 STOML3 NA18994 esv25030 13 38426095 38427620 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10851 S 451 0 1 "" NA19099 esv1410184 13 38428844 38428844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989710 S 2 1 0 "" HuRef esv1348054 13 38460574 38460574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739030 S 2 1 0 STOML3 HuRef esv23280 13 38645517 38649641 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17002 S 451 0 7 "" NA18508,NA18517,NA18858,NA18907,NA18916,NA19099,NA19190 esv2421658 13 38645763 38649136 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5071627,essv5143576,essv5007607,essv5040464,essv5134822,essv5048249,essv5065839,essv5079456,essv5011233,essv5102667,essv5017977,essv5086099,essv5031207,essv5050564,essv5132052,essv5012593,essv5039067,essv5050059,essv5135207,essv5071754,essv5089743,essv5022253,essv5146440,essv5129725,essv5121846,essv5149287,essv5067088,essv5088511,essv5015866,essv5085796,essv5103156,essv5110901,essv5067165,essv5073193,essv5136408,essv5008292,essv5006987,essv5010678,essv5039559,essv5028118,essv5016715,essv5032475,essv5070398,essv5010450,essv5115594,essv5092478,essv5159548,essv5070354,essv5064835,essv5097271,essv5042651,essv5070780,essv5089459,essv5038823,essv5024008,essv5113265,essv5161065,essv5151329,essv5034604,essv5028401,essv5093097,essv5121394,essv5122829,essv5048802,essv5141589,essv5094303,essv5093701,essv5117221,essv5024229,essv5144220,essv5135694,essv5014461,essv5109560,essv5003866,essv5068739,essv5118725,essv5114941,essv5036707,essv5121048,essv5056399,essv5054963,essv5002428,essv5083442,essv5015937,essv5141097,essv5109323,essv5125163,essv5054189,essv5008990,essv5106479,essv5133756,essv5004121,essv5109003,essv5134413,essv5099628,essv5085812,essv5131982,essv5028364,essv5065914,essv5061456,essv5014022,essv5095329,essv5078140,essv5059955,essv5156185,essv5023723,essv5016487,essv5114319,essv5096412,essv5080176,essv5089541,essv5020507,essv5053510,essv5112872,essv5002536,essv5091857,essv5126009,essv5159990,essv5159428,essv5045217,essv5020056,essv5159738,essv5012460,essv5013859,essv5074705,essv5083874,essv5048788,essv5132974,essv5052328,essv5013530,essv5013788,essv5003055,essv5087417,essv5052245,essv5114992,essv5085646,essv5043331,essv5027510 M 1184 0 138 "" NA18500,NA18501,NA18503,NA18504,NA18506,NA18508,NA18509,NA18511,NA18517,NA18518,NA18519,NA18853,NA18854,NA18858,NA18859,NA18860,NA18862,NA18863,NA18873,NA18875,NA18910,NA18911,NA18912,NA18914,NA18916,NA18917,NA18924,NA19028,NA19035,NA19046,NA19096,NA19099,NA19107,NA19116,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19128,NA19131,NA19132,NA19137,NA19140,NA19144,NA19159,NA19161,NA19171,NA19179,NA19180,NA19185,NA19189,NA19190,NA19192,NA19194,NA19197,NA19199,NA19201,NA19206,NA19210,NA19211,NA19221,NA19222,NA19235,NA19237,NA19247,NA19248,NA19316,NA19317,NA19319,NA19327,NA19347,NA19371,NA19372,NA19380,NA19383,NA19399,NA19448,NA19467,NA19469,NA19701,NA19711,NA19712,NA19789,NA19908,NA19909,NA19919,NA19985,NA20126,NA20127,NA20276,NA20277,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20295,NA20301,NA20302,NA20332,NA20333,NA20337,NA20340,NA20341,NA20342,NA20344,NA20345,NA20348,NA21313,NA21355,NA21362,NA21363,NA21405,NA21408,NA21415,NA21434,NA21440,NA21441,NA21442,NA21454,NA21486,NA21487,NA21525,NA21575,NA21577,NA21578,NA21582,NA21600,NA21631,NA21632,NA21647,NA21685,NA21733,NA21740 nsv442668 13 38645763 38649136 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514695 13 38646272 38648800 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628175 S 1414 0 1 "" nsv900007 13 38699283 38747423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578384 S 6533 0 1 "" IS34768 nsv437164 13 38765227 38770237 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467045 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv438250 13 38766773 38768592 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470595,nssv470594 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA12815 esv996813 13 38827705 38835070 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564128 S 3 0 1 LHFP HuRef esv25053 13 38831627 38833387 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14855,esv21149 M 451 11 8 LHFP NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12489,NA18502,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19225,NA19257 nsv826624 13 38831627 38833533 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435373,nssv1435585,nssv1423711,nssv1427794,nssv1441455,nssv1433939,nssv1437711,nssv1432371,nssv1426075,nssv1430105,nssv1422116,nssv1439935,nssv1430872,nssv1424519,nssv1440611,nssv1434668,nssv1428592 M 31 0 17 LHFP AK10,AK14,AK16,AK20,AK4,AK8,NA18526,NA18537,NA18564,NA18570,NA18582,NA18592,NA18942,NA18949,NA18969,NA18997,NA18999 nsv820008 13 38832001 38833574 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419285 S 2 0 1 LHFP AK1 nsv511518 13 38832077 38834903 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626138 S 1 0 1 LHFP 1 nsv820588 13 38832091 38833533 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421040 S 1 0 1 LHFP NA10851 nsv512313 13 38832104 38833546 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624893 S 1 0 1 LHFP 1 esv988930 13 38832183 38833480 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578551 S 3 0 1 LHFP HuRef esv1412441 13 38832188 38833486 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3900276 S 2 0 1 LHFP HuRef nsv64628 13 38832219 38833515 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83206 M 24 LHFP esv1008099 13 38832389 38833533 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587068 S 3 0 1 LHFP HuRef nsv826625 13 38832389 38833533 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422896,nssv1431581,nssv1427004,nssv1429582,nssv1429353,nssv1438403,nssv1436135,nssv1439231,nssv1433145,nssv1429129,nssv1425272,nssv1421904 M 31 2 10 LHFP AK12,AK18,AK2,AK6,NA18547,NA18552,NA18566,NA18947,NA18951,NA18968,NA18972,NA18973 esv995533 13 38832494 38833005 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586292 S 3 0 1 LHFP HuRef nsv64358 13 38841738 38841738 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82936 M 24 LHFP nsv900008 13 38860791 38918267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583424 S 6533 0 1 LHFP IS36465 esv22501 13 38880147 38881164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16099 S 451 0 1 LHFP NA12156 nsv507693 13 38892163 38898163 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620532,nssv617855,nssv619101,nssv623132 M 4 4 0 LHFP CHM,NA10860,NA15510,NA18994 nsv1011 13 38906962 38932177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9115 S 9 0 1 LHFP NA12156 esv2428792 13 38926048 38927641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226808 S 1 0 1 LHFP NA18507 esv2109685 13 38926280 38926999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794566 S 1 0 1 LHFP NA18507 esv4444 13 38926446 38926916 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26885 S 1 0 1 Single Asian sample YH LHFP YH dgv8e197 13 38926470 38926802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2454323,esv2522038 M 1 0 1 LHFP NA18507 esv7050 13 38926472 38926803 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29491 S 1 0 1 LHFP SJK nsv64485 13 38926482 38926803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83063 M 24 LHFP dgv553e1 13 38938036 38988742 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv945,essv206,essv2728 M 271 0 0 LHFP NA18965,NA18994 nsv818957 13 38961104 38965857 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417493 S 112 0 1 LHFP NA18965 esv1482720 13 38979817 38979817 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785562 S 2 1 0 LHFP HuRef esv2421708 13 39016603 39023453 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5078575,essv5145894,essv5099098,essv5050217,essv5109055,essv5041835,essv5102955,essv5045889,essv5153439,essv5064928,essv5041901,essv5085728,essv5056967,essv5096088,essv5091375,essv5026175,essv5085604 M 1184 0 17 LHFP NA19179,NA19396,NA19430,NA19462,NA19469,NA19470,NA19982,NA19983,NA21360,NA21361,NA21364,NA21368,NA21418,NA21597,NA21647,NA21685,NA21784 nsv517093 13 39017410 39021073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682091,nssv664332,nssv676048,nssv653999,nssv653774,nssv692533,nssv686638,nssv655145,nssv670468,nssv677359,nssv691844,nssv679275 M 2026 0 12 LHFP nsv523936 13 39017410 39026845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699782 S 2026 0 1 LHFP nsv832586 13 39120880 39277063 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450143,nssv1450145,nssv1450144 M 95 1 2 COG6,MIR4305 nsv523666 13 39127891 39128294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699468 S 2026 0 1 COG6 esv33028 13 39136180 39137010 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98158,essv98343 M 51 2 0 COG6,MIR4305 21772,22352 nsv471130 13 39159945 39248912 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545396 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COG6 HGDP00682 esv1608257 13 39178412 39178412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107958 S 2 1 0 COG6 HuRef nsv1012 13 39180226 39214040 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9116 S 9 1 0 COG6 NA12156 esv2271578 13 39298738 39299151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635580 S 1 0 1 "" NA18507 nsv510331 13 39318552 39324552 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621394 S 4 0 1 "" NA15510 esv1159111 13 39549366 39549366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077612 S 2 1 0 "" HuRef nsv900009 13 39585616 39623267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599335 S 6533 0 1 "" IS41581 nsv516486 13 39604991 39618994 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680697,nssv692933,nssv669010,nssv704487,nssv668663,nssv687396,nssv682652,nssv682699,nssv681825,nssv705928 M 2026 0 10 "" nsv527497 13 39622077 39623689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703946 S 2026 0 1 "" nsv523657 13 39626494 39626828 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699458 S 2026 1 0 "" esv21572 13 39681968 39686231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18817 S 451 0 1 FLJ42392 NA12828 nsv513386 13 39686222 39687034 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625781 S 1 1 0 FLJ42392 1 esv272009 13 39731750 39732099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496203,essv2494050,essv2513396,essv2497594 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18871,NA18907,NA19147 nsv510332 13 39761651 39767651 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618385,nssv621395,nssv624137 M 4 0 3 "" CHM,NA15510,NA18994 nsv527921 13 39796405 39812540 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704428 S 2026 1 0 "" nsv1013 13 39873457 39906652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2030 S 9 1 0 TTL NA18555 nsv524578 13 39941438 39941558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700534 S 2026 0 1 TTL esv989399 13 39995370 39995892 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565626 S 3 1 0 "" HuRef nsv525547 13 40022652 40035804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701685 S 2026 0 1 FOXO1 nsv516843 13 40167994 40168080 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682081,nssv654385 M 2026 2 0 "" esv2418149 13 40168921 40169621 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956550 S 1 0 1 "" NA18507 esv8804 13 40169122 40169433 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31245 S 1 0 1 "" SJK nsv900010 13 40171079 40236283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594607 S 6533 0 1 MIR320D1,MRPS31 IS39944 nsv900011 13 40197915 40236283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513963,nssv1515350 M 6533 0 2 MIR320D1,MRPS31 SP55878,SP56172 nsv900012 13 40365889 40464781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569230 S 6533 0 1 ELF1,LOC100616668,SUGT1P3 IS31553 esv1709140 13 40427538 40427665 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025556 S 2 0 1 ELF1 HuRef nsv64500 13 40475534 40475671 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83078 M 24 ELF1 esv259449 13 40477906 40478383 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394176,essv2393782 M 6 0 0 Samples from several populations that are part of the HapMap project. ELF1 NA12878,NA12892 esv259991 13 40477937 40478405 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398594,essv2400900,essv2399950,essv2397953,essv2397366,essv2396921,essv2394847 M 144 0 0 Samples from several populations that are part of the HapMap project. ELF1 NA10847,NA11993,NA12156,NA12751,NA12878,NA12892,NA19114 nsv832587 13 40502931 40696808 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450173,nssv1450190,nssv1450168,nssv1450151,nssv1450185,nssv1450191,nssv1450182,nssv1450188,nssv1450189,nssv1450187,nssv1450171,nssv1450186,nssv1450176,nssv1450192,nssv1450194,nssv1450199,nssv1450193,nssv1450198,nssv1450147,nssv1450148,nssv1450146,nssv1450149,nssv1450197,nssv1450174,nssv1450175,nssv1450181,nssv1450155,nssv1450167,nssv1450196,nssv1450152,nssv1450153,nssv1450154,nssv1450177,nssv1450170,nssv1450178,nssv1450156,nssv1450158,nssv1450157,nssv1450159,nssv1450166,nssv1450180,nssv1450160,nssv1450165,nssv1450179,nssv1450162,nssv1450169,nssv1450164,nssv1450163 M 95 48 0 KBTBD6,KBTBD7,MTRF1,WBP4 nsv528180 13 40613282 40658947 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704730 S 2026 1 0 "" nsv523358 13 40616827 40658947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699107 S 2026 0 1 "" nsv1014 13 40669113 40701719 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2901 S 9 1 0 MTRF1 NA18555 nsv1015 13 40723960 40756487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5472 S 9 1 0 MTRF1 NA19129 esv2498442 13 40799267 40800383 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302730 S 1 1 0 NAA16 NA18507 esv269506 13 40799839 40800096 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510754,essv2494145,essv2494773,essv2494884,essv2505996,essv2505248,essv2498433,essv2513369,essv2495497,essv2501503,essv2506539,essv2509412,essv2493569,essv2498879 M 157 14 0 Samples from several populations that are part of the HapMap project. NAA16 NA18501,NA18502,NA18519,NA18520,NA18523,NA18853,NA18858,NA18907,NA18916,NA19093,NA19108,NA19129,NA19137,NA19138 esv2494010 13 40827992 40829536 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203520 S 1 0 1 NAA16 NA18507 esv2073591 13 40828383 40828825 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4896572 S 1 0 1 NAA16 NA18507 esv4789 13 40828487 40828730 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27230 S 1 0 1 Single Asian sample YH NAA16 YH esv1009722 13 40828579 40828673 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577096 S 3 0 1 NAA16 HuRef esv1370240 13 40828604 40828699 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093303 S 2 0 1 NAA16 HuRef esv26804 13 40868640 40871161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18140 S 451 0 2 "" NA18508,NA18858 esv1290844 13 40872306 40872306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156135 S 2 1 0 "" HuRef esv1724934 13 40872789 40872789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303300 S 2 1 0 "" HuRef nsv509504 13 40885977 40968900 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620988 S 4 1 0 C13orf15,OR7E37P NA15510 esv2087267 13 40899983 40900372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821793 S 1 0 1 "" NA18507 nsv900013 13 40995044 41014714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529862 S 6533 0 1 "" MS10123 nsv455865 13 40995044 41423876 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533327 S 1557 1 0 KIAA0564 1780862585_A nsv826626 13 41002795 41003879 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441456 S 31 0 1 "" NA18969 nsv516192 13 41002828 41003710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666692,nssv679140,nssv676635 M 2026 0 3 "" nsv818958 13 41002828 41003710 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417244 S 112 0 1 "" NA18577 nsv522257 13 41015928 41034100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695037 S 2026 0 1 "" esv2567475 13 41052064 41053627 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168850 S 1 0 1 KIAA0564 NA18507 esv2023186 13 41052913 41053655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810370 S 1 0 1 KIAA0564 NA18507 esv7327 13 41053119 41053443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29768 S 1 0 1 KIAA0564 SJK esv1000583 13 41121386 41122357 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564787 S 3 1 0 KIAA0564 HuRef esv272054 13 41121697 41123333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495248,essv2513180,essv2496778,essv2510520,essv2494295,essv2504153,essv2505339,essv2500926,essv2498730,essv2497524 M 157 10 0 Samples from several populations that are part of the HapMap project. KIAA0564 NA11992,NA12249,NA18498,NA18501,NA18502,NA18505,NA18853,NA18856,NA19138,NA19147 esv1036188 13 41121735 41121735 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869374 S 2 1 0 KIAA0564 HuRef esv260019 13 41134967 41139820 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398709,essv2394483 M 144 0 0 Samples from several populations that are part of the HapMap project. KIAA0564 NA19190,NA19257 esv24878 13 41135228 41139744 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19269 S 451 2 0 KIAA0564 NA19190,NA19257 nsv528324 13 41186173 41193142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704905 S 2026 0 1 KIAA0564 dgv75e55 13 41291824 41480595 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751143,esv2751144 M 771 0 2 KIAA0564,LOC100507240 BEC_549,BEC_699 nsv832588 13 41349120 41525252 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450200,nssv1450201 M 95 2 0 DGKH,KIAA0564,LOC100507240 esv1655024 13 41353787 41353787 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325528 S 2 1 0 KIAA0564 HuRef esv2479925 13 41469237 41470227 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244433 S 1 1 0 "" NA18507 esv270937 13 41469530 41469864 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557851,essv2575803,essv2571796,essv2546373,essv2521425,essv2526098,essv2542521,essv2543841,essv2556623,essv2531960,essv2570571,essv2521534,essv2550718,essv2550291,essv2535314,essv2544232,essv2552225,essv2520327,essv2547451,essv2558362,essv2577758,essv2559540,essv2565494,essv2576174,essv2554879,essv2561812,essv2537352,essv2546861,essv2557477,essv2557225,essv2532138,essv2578861,essv2550099,essv2558888,essv2539147,essv2569712,essv2561332,essv2544731,essv2563023,essv2542870,essv2539744,essv2522203,essv2532671,essv2529052,essv2569927,essv2553282,essv2535492,essv2559103,essv2542049,essv2551030,essv2569019,essv2543782,essv2556407,essv2528025,essv2562388,essv2539426,essv2533858,essv2578410,essv2555187,essv2527508,essv2522569,essv2573398,essv2525780,essv2529424,essv2574992,essv2538801,essv2526693,essv2560595,essv2524226,essv2574654,essv2530333,essv2568433,essv2545235,essv2560489,essv2571097,essv2546144,essv2574112,essv2551209,essv2536321 M 157 79 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA11830,NA11840,NA11881,NA11894,NA11918,NA11919,NA11992,NA11994,NA12006,NA12044,NA12144,NA12155,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12812,NA12814,NA12872,NA12874,NA12878,NA12892,NA18499,NA18501,NA18505,NA18510,NA18511,NA18516,NA18519,NA18520,NA18523,NA18526,NA18532,NA18550,NA18563,NA18571,NA18576,NA18579,NA18593,NA18605,NA18608,NA18638,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18952,NA18960,NA18964,NA18980,NA19093,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv272926 13 41469530 41469864 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581944,essv2582980,essv2584058,essv2584627,essv2583654 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv269885 13 41484715 41484856 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511850,essv2494122,essv2509047,essv2509272,essv2495737,essv2499059,essv2498717 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18502,NA18522,NA18909,NA18916,NA19114,NA19138 nsv900014 13 41502940 41587853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576368,nssv1581479,nssv1595299 M 6533 0 3 DGKH IS34047,IS35582,IS40223 nsv1016 13 41513997 41544425 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10913 S 9 1 0 DGKH NA15510 nsv832589 13 41534681 41675633 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450202 S 95 0 1 DGKH nsv510333 13 41563816 41569816 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621396 S 4 0 1 DGKH NA15510 nsv455866 13 41587853 41612711 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533328 S 1557 0 1 DGKH 1780862381_A nsv900015 13 41621462 41669066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568793 S 6533 0 1 DGKH IS31338 esv269439 13 41624770 41625092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558123,essv2565861,essv2540909,essv2546320,essv2521102,essv2536558,essv2556681,essv2545362,essv2548479,essv2554041,essv2551975,essv2520550,essv2529367,essv2554910,essv2548644,essv2554724 M 157 16 0 Samples from several populations that are part of the HapMap project. DGKH NA07037,NA07346,NA10851,NA11829,NA11831,NA11881,NA11894,NA11920,NA11994,NA12003,NA12045,NA12287,NA12489,NA12716,NA12749,NA12872 dgv554e1 13 41649707 41674117 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5756,esv896 M 271 0 0 DGKH NA18540 esv2646739 13 41653058 41654510 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329918 S 1 0 1 DGKH NA18507 esv2150531 13 41653779 41654423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549647 S 1 0 1 DGKH NA18507 esv2952 13 41653879 41654389 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25393 S 1 0 1 Single Asian sample YH DGKH YH esv1238821 13 41654001 41654253 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139482 S 2 0 1 DGKH HuRef nsv832590 13 41655648 41810459 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450203 S 95 1 0 AKAP11,DGKH nsv519614 13 41657253 41660048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657069,nssv657181 M 2026 0 2 DGKH nsv523454 13 41657253 41665185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699211 S 2026 0 1 DGKH nsv9070 13 41659324 41662377 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24230 S 31 1 0 Samples from several populations that are part of the HapMap project. DGKH NA18517 nsv819965 13 41691429 41691902 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418969 S 2 0 1 DGKH AK1 nsv455867 13 41692508 41710356 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533329 S 1557 0 1 DGKH 1780862162_A nsv832591 13 41735587 41916301 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450204 S 95 1 0 AKAP11 esv2439530 13 41837927 41838755 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330579 S 1 1 0 "" NA18507 esv268014 13 41838052 41838402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558162,essv2576107,essv2540944,essv2546174,essv2525832,essv2542545,essv2522988,essv2544104,essv2523301,essv2577379,essv2548193,essv2521763,essv2576711,essv2550619,essv2535357,essv2520540,essv2547374,essv2558359,essv2559756,essv2565462,essv2530641,essv2561782,essv2537238,essv2528396,essv2547021,essv2540177,essv2552479,essv2550024,essv2537138,essv2527160,essv2544966,essv2562824,essv2523799,essv2538245,essv2540487,essv2524385,essv2565157,essv2534501,essv2561260,essv2549355,essv2519759,essv2560063,essv2522252,essv2565912,essv2530901,essv2532478,essv2568006,essv2567297,essv2541707,essv2569923,essv2563728,essv2553237,essv2535585,essv2572416,essv2566803,essv2551045,essv2556246,essv2527826,essv2562387,essv2534057,essv2578193,essv2573136,essv2533528,essv2566452,essv2530129,essv2573825,essv2557682,essv2534309,essv2522323,essv2531501,essv2529778,essv2538523,essv2560566,essv2574892,essv2572664,essv2560444,essv2546015,essv2574362,essv2551513,essv2548805,essv2533361,essv2548040,essv2525119,essv2563382 M 157 84 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11918,NA11919,NA11931,NA11992,NA12004,NA12043,NA12045,NA12144,NA12154,NA12155,NA12249,NA12716,NA12717,NA12750,NA12776,NA12812,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18502,NA18511,NA18517,NA18522,NA18526,NA18532,NA18537,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18858,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18948,NA18949,NA18951,NA18953,NA18959,NA18960,NA18961,NA19093,NA19108,NA19116,NA19138,NA19143,NA19190,NA19239,NA19240,NA19257 esv273796 13 41838054 41838395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582172,essv2582536,essv2582822,essv2584656,essv2583798 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv1588585 13 41838088 41838088 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642792 S 2 1 0 "" HuRef esv2603974 13 41843387 41844858 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281947 S 1 0 1 "" NA18507 esv2257663 13 41843844 41844585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917981 S 1 0 1 "" NA18507 esv1001428 13 41843951 41845101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564124 S 3 0 1 "" HuRef esv1408850 13 41844064 41844395 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229379 S 2 0 1 "" HuRef esv8900 13 41844070 41844392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31341 S 1 0 1 "" SJK esv259659 13 41845171 41845757 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394244,essv2393968,essv2393803,essv2393681,essv2394000,essv2394307 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2518551 13 41845389 41846330 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211860 S 1 1 0 "" NA18507 esv1524081 13 41845585 41845585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215286 S 2 1 0 "" HuRef nsv1017 13 41881355 41911888 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2031 S 9 1 0 "" NA18555 esv1461045 13 41889556 41889556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814686 S 2 1 0 "" HuRef dgv38e19 13 41927817 41985926 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5474,esv6540 M 1 0 0 "" SJK esv988171 13 41951200 41951843 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582485 S 3 0 1 "" HuRef esv22647 13 41951216 41951830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9773 S 451 0 5 "" NA07045,NA11931,NA11995,NA18523,NA19147 esv2280876 13 42010632 42011052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899500 S 1 0 1 "" NA18507 esv33319 13 42042604 42044458 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99975 S 51 0 1 TNFSF11 22086 nsv832593 13 42043940 42207787 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450205 S 95 1 0 TNFSF11 dgv555e1 13 42098764 42130996 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15922,esv1142,essv7966,essv13367 M 271 0 0 "" NA19159,NA19203,NA19205 nsv442306 13 42103086 42123720 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv522484 13 42103269 42126324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705851 S 2026 0 1 "" nsv818959 13 42103269 42127438 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416790 S 112 0 1 "" NA19159 nsv437784 13 42115101 42122740 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467665 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 nsv1018 13 42170331 42194527 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9488 S 9 1 0 "" NA18507 nsv900016 13 42178445 42425143 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550497 S 6533 1 0 C13orf30,EPSTI1 MS18431 esv24773 13 42198241 42200595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19944 S 451 0 1 "" NA12004 nsv900017 13 42200525 42311569 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538885 S 6533 1 0 C13orf30 MS13800 nsv455869 13 42258598 42356559 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533330 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C13orf30 HGDP01374 esv33538 13 42280242 42771921 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94767 S 51 1 0 DNAJC15,ENOX1,EPSTI1 21791 nsv900018 13 42303108 42335533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556523 S 6533 0 1 "" MS22103 nsv455870 13 42314658 42394235 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533331 S 1557 1 0 EPSTI1 1780862532_A dgv1575n71 13 42353214 42686158 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900020,nsv900019,nsv900021 M 6533 3 0 DNAJC15,ENOX1,EPSTI1 MS10517,MS13800,SP51457 dgv225n27 13 42369403 42422816 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455871,nsv455872 M 1557 2 0 EPSTI1 1780846320_A,HGDP01229 nsv471131 13 42373191 42394235 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545397 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EPSTI1 HGDP01229 nsv527959 13 42373191 42419227 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704469 S 2026 1 0 EPSTI1 nsv900022 13 42389848 42497411 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524319 S 6533 1 0 DNAJC15,EPSTI1 SP54968 esv2887 13 42437708 42439561 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25328 S 1 0 1 Single Asian sample YH EPSTI1 YH nsv512314 13 42437779 42439445 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624894 S 1 0 1 EPSTI1 1 esv6875 13 42437784 42439449 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29316 S 1 0 1 EPSTI1 SJK esv992683 13 42437803 42439455 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568013 S 3 0 1 EPSTI1 HuRef esv1461322 13 42437809 42439462 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143281 S 2 0 1 EPSTI1 HuRef nsv900023 13 42442964 42666575 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550498 S 6533 1 0 DNAJC15,EPSTI1 MS18431 nsv455873 13 42457768 42501871 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533334 S 1557 0 1 DNAJC15,EPSTI1 1780854103_A nsv519830 13 42495865 42496191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658969,nssv672981,nssv676682 M 2026 0 3 DNAJC15 nsv525534 13 42495865 42527595 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701669 S 2026 1 0 DNAJC15 dgv324n67 13 42495868 42504785 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826627,nsv826628,nsv826630,nsv826629 M 31 17 0 DNAJC15 AK10,AK12,AK16,AK2,AK20,AK4,AK6,AK8,NA18526,NA18552,NA18564,NA18566,NA18582,NA18947,NA18949,NA18969,NA18997 nsv819470 13 42495909 42507129 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418603 S 2 1 0 DNAJC15 AK1 esv2421588 13 42497411 42505143 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085249,essv5066961,essv5117602,essv5117209,essv5015500,essv5035105,essv5010483,essv5005057,essv5120777,essv5159293,essv5150397,essv5143107,essv5112905,essv5158195,essv5130913,essv5054330,essv5090809,essv5046980,essv5122472,essv5110813,essv5011216,essv5024322,essv5079238,essv5064047,essv5129636,essv5018612,essv5132919,essv5115092,essv5023351,essv5037553,essv5085515,essv5097990,essv5015112,essv5097755,essv5060292,essv5118071,essv5048303,essv5086345,essv5021691,essv5069807,essv5014239,essv5073073,essv5121036,essv5036339,essv5022872,essv5045301,essv5120215,essv5025798,essv5132942,essv5021326,essv5113642,essv5123486,essv5156081,essv5048056,essv5157993,essv5064068,essv5062620,essv5121619,essv5150461,essv5070245,essv5117052,essv5131097,essv5116703,essv5113408,essv5034262,essv5072459,essv5122741,essv5096296,essv5041692,essv5032143,essv5061043,essv5012368,essv5075389,essv5082257,essv5044651,essv5069663,essv5023235,essv5115848,essv5155999,essv5153930,essv5004553,essv5124195,essv5114453,essv5040592,essv5058961,essv5058238,essv5104238,essv5115656,essv5051910,essv5154526,essv5016896,essv5102121,essv5012637,essv5036672,essv5101412,essv5055139,essv5131063,essv5112679,essv5146947 M 1184 99 0 DNAJC15 NA17975,NA17980,NA17983,NA17990,NA18106,NA18107,NA18109,NA18117,NA18120,NA18128,NA18129,NA18143,NA18144,NA18147,NA18148,NA18154,NA18156,NA18158,NA18517,NA18519,NA18526,NA18546,NA18548,NA18552,NA18558,NA18561,NA18564,NA18566,NA18582,NA18594,NA18595,NA18597,NA18599,NA18603,NA18605,NA18616,NA18617,NA18619,NA18620,NA18622,NA18623,NA18626,NA18631,NA18633,NA18640,NA18670,NA18685,NA18757,NA18940,NA18943,NA18945,NA18946,NA18947,NA18948,NA18949,NA18952,NA18959,NA18961,NA18966,NA18967,NA18969,NA18970,NA18973,NA18974,NA18976,NA18981,NA18987,NA18997,NA18998,NA19000,NA19009,NA19055,NA19057,NA19059,NA19063,NA19067,NA19075,NA19078,NA19079,NA19080,NA19081,NA19088,NA19130,NA19197,NA19199,NA19206,NA19208,NA19308,NA19661,NA19685,NA19686,NA19759,NA19760,NA19762,NA19763,NA19773,NA19782,NA20348,NA21339 esv29187 13 42497429 42506401 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14764 S 451 1 0 DNAJC15 NA18517 nsv442669 13 42497548 42501093 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DNAJC15 nsv514696 13 42498736 42501076 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628176 S 1414 1 0 DNAJC15 dgv109n21 13 42501093 42502158 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525393,nsv529029 M 2026 2 0 DNAJC15 nsv524787 13 42501093 42505143 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700779 S 2026 1 0 DNAJC15 nsv818960 13 42501093 42505143 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417657,nssv1417109 M 112 2 0 DNAJC15 NA18529,NA18992 esv2751145 13 42552658 42722441 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987613,essv6987612,essv6984532,essv6984531,essv6984530 M 771 1 0 DNAJC15,ENOX1 BEC_715 dgv1576n71 13 42596252 42664368 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900026,nsv900024 M 6533 2 0 "" IS36667,IS38649 nsv900025 13 42600139 42644627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524320 S 6533 1 0 "" SP54968 nsv832594 13 42607309 42789531 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450210,nssv1450207,nssv1450208,nssv1450209 M 95 3 1 ENOX1 nsv516197 13 42630555 42686158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688831,nssv671908,nssv666732,nssv687241 M 2026 4 0 ENOX1 esv2751146 13 42640864 42688913 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981115,essv6985481,essv6981117,essv6981116 M 771 1 0 ENOX1 BEC_354 dgv1577n71 13 42713123 42995658 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900027,nsv900028 M 6533 2 0 ENOX1 MS13800,MS18431 nsv518904 13 42726170 42782680 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696362 S 2026 1 0 ENOX1 nsv526810 13 42782680 42789149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703164 S 2026 0 1 ENOX1 esv26544 13 42821410 42822117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19385 S 451 0 1 ENOX1 NA11993 nsv900029 13 42912600 42995658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531409 S 6533 0 1 ENOX1 MS10441 nsv516714 13 42922157 42926789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670342,nssv684434,nssv655963,nssv692728,nssv685435,nssv692646,nssv674335,nssv690562,nssv679613 M 2026 0 9 ENOX1 nsv1019 13 42936104 42969886 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4067 S 9 1 0 ENOX1 NA12878 nsv900030 13 43013099 43046277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518000 S 6533 0 1 ENOX1 SP57430 esv271752 13 43035911 43036312 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510598,essv2494740,essv2509476 M 157 3 0 Samples from several populations that are part of the HapMap project. ENOX1 NA18501,NA18519,NA19129 nsv528539 13 43060114 43060400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705151 S 2026 0 1 ENOX1 nsv826632 13 43062337 43066394 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422118 S 31 0 1 ENOX1 NA18997 esv275158 13 43138925 43140514 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585195 S 1250 0 1 ENOX1 nsv832595 13 43188973 43397299 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450214,nssv1450212,nssv1450215,nssv1450211,nssv1450213,nssv1450219,nssv1450218,nssv1450216 M 95 8 0 CCDC122,ENOX1,LACC1 esv2590950 13 43273748 43275374 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209780 S 1 0 1 "" NA18507 esv2433565 13 43277890 43279397 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214306 S 1 0 1 "" NA18507 esv2378149 13 43278122 43278852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638263 S 1 0 1 "" NA18507 esv9160 13 43278322 43278657 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31601 S 1 0 1 "" SJK esv273426 13 43309759 43310101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580844,essv2579679 M 7 2 0 Samples from several populations that are part of the HapMap project. CCDC122 NA19238,NA19240 nsv524104 13 43361409 43369277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699979 S 2026 0 1 LACC1 nsv900031 13 43500280 43590881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544637 S 6533 0 1 LINC00284 MS16408 esv988004 13 43614268 43614337 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578307 S 3 0 1 "" HuRef esv1426964 13 43614377 43614447 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010001 S 2 0 1 "" HuRef nsv1020 13 43750823 43783826 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2032 S 9 1 0 "" NA18555 nsv1022 13 43759994 43800747 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9117 S 9 0 1 "" NA12156 esv275349 13 43827095 43832074 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585968 S 1250 0 1 "" esv23675 13 43940562 43941120 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19590 S 451 0 1 TSC22D1 NA12489 esv271017 13 43964270 43964355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518970,essv2515222,essv2518403 M 157 3 0 Samples from several populations that are part of the HapMap project. TSC22D1 NA19141,NA19238,NA19240 esv273649 13 43964275 43964541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584268,essv2583739 M 7 2 0 Samples from several populations that are part of the HapMap project. TSC22D1 NA19238,NA19240 nsv516216 13 44204329 44207025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666870,nssv659414 M 2026 0 2 "" nsv507694 13 44217618 44223618 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623133,nssv617856 M 4 2 0 "" CHM,NA18994 esv274192 13 44324576 44324661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581484 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv524788 13 44390146 44438136 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700780 S 2026 0 1 NUFIP1 dgv1578n71 13 44454123 44646855 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900032,nsv900033 M 6533 2 0 GTF2F2,KIAA1704,NUFIP1 IS36460,IS37591 nsv64787 13 44491224 44491224 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83365 M 24 KIAA1704 nsv832596 13 44512373 44696897 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450220,nssv1450221 M 95 0 2 GTF2F2,KCTD4 nsv518593 13 44708063 44724876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696040 S 2026 0 1 GTF2F2 nsv510579 13 44777361 44897073 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620058 S 4 0 1 LOC100190939,SLC25A30,SNORA31,TPT1 NA15510 esv1100449 13 44786632 44786924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612332 S 2 0 1 "" HuRef nsv1023 13 44840921 44863946 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1143,nssv9489 M 9 2 0 LOC100190939 NA18507,NA19240 esv29553 13 44847554 44856104 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15971 S 451 1 0 LOC100190939 NA18523 esv1002945 13 44852513 44862607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564411 S 3 0 1 LOC100190939 HuRef esv2200003 13 44853980 44854465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635222 S 1 0 1 LOC100190939 NA18507 nsv455875 13 44887456 44951545 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533335 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COG3,SLC25A30 HGDP00682 esv2600409 13 44903115 44904558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326810 S 1 0 1 "" NA18507 nsv510583 13 44956592 45058537 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620059 S 4 0 1 COG3,FAM194B NA15510 esv1166784 13 44957514 44957645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779392 S 2 0 1 COG3 HuRef esv1140090 13 44985501 44985657 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049537 S 2 0 1 COG3 HuRef esv271929 13 44989581 44990038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505372,essv2509637,essv2499673 M 157 3 0 Samples from several populations that are part of the HapMap project. COG3 NA18853,NA19129,NA19225 esv275007 13 45011985 45015065 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585679 S 1250 0 1 FAM194B dgv325n67 13 45068389 45068971 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826633,nsv826634 M 31 2 0 FAM194B AK14,AK16 esv1002062 13 45068389 45068990 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586852 S 3 0 1 FAM194B HuRef esv2457399 13 45165658 45166492 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314993 S 1 1 0 "" NA18507 esv270010 13 45166042 45166383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514644,essv2517420,essv2517018,essv2518654,essv2514756,essv2518522,essv2516575,essv2514462,essv2516246,essv2516883,essv2515824,essv2515242,essv2518860,essv2518386,essv2519407,essv2513630 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11918,NA11931,NA12045,NA12234,NA12287,NA12814,NA12874,NA12891,NA12892,NA18969,NA19238,NA19239,NA19240 esv272579 13 45166048 45166377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582665,essv2583164,essv2583922,essv2584684,essv2583292 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 esv8673 13 45190770 45190830 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31114 S 1 1 0 "" SJK nsv64403 13 45214564 45219771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82981 M 24 "" nsv1024 13 45264845 45309417 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2033 S 9 0 1 SIAH3 NA18555 nsv527222 13 45265380 45282832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703622 S 2026 1 0 SIAH3 nsv832597 13 45284263 45453184 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450222,nssv1450224,nssv1450223 M 95 0 3 SIAH3,ZC3H13 esv269674 13 45375253 45375548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514668 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv526023 13 45380120 45387745 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702253 S 2026 0 1 "" nsv900034 13 45387745 45516291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555518 S 6533 1 0 ZC3H13 MS21397 dgv1579n71 13 45387745 45600402 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900039,nsv900037,nsv900041,nsv900035,nsv900036,nsv900040,nsv900038 M 6533 10 0 CPB2,LCP1,ZC3H13 MS10291,MS10375,MS11556,MS15525,MS16315,MS17637,MS18752,MS18828,MS19093,MS20247 nsv832598 13 45446364 45621183 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450225,nssv1450226 M 95 2 0 CPB2,LCP1,ZC3H13 dgv1580n71 13 45448444 45600402 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900042,nsv900045 M 6533 2 0 CPB2,LCP1,ZC3H13 IS38386,MS21236 dgv1581n71 13 45466498 45568003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900044,nsv900043 M 6533 0 2 CPB2,ZC3H13 SP53687,SP54490 esv2507198 13 45500284 45501866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293625 S 1 0 1 ZC3H13 NA18507 nsv455876 13 45516291 46211420 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533336 S 1557 1 0 CPB2,KIAA0226L,LCP1,LRCH1,ZC3H13 1780854101_A esv1459731 13 45526996 45526996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285103 S 2 1 0 CPB2 HuRef nsv820278 13 45536728 45536931 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419148 S 2 0 1 CPB2 AK1 dgv1582n71 13 45536827 45550143 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900046,nsv900053 M 6533 0 2 CPB2 SP51486,SP56874 nsv900047 13 45538056 45546095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506759 S 6533 0 1 CPB2 SP54402 nsv900048 13 45538056 45564433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500898 S 6533 0 1 CPB2 SP51132 dgv1583n71 13 45539774 45542406 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900049,nsv900051 M 6533 0 2 CPB2 SP52077,SP56172 dgv1584n71 13 45539774 45543116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900050,nsv900052 M 6533 0 2 CPB2 SP52717,SP55715 nsv900054 13 45541607 45546095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502153 S 6533 0 1 CPB2 SP50691 esv270613 13 45545716 45546058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565777,essv2546172,essv2542231,essv2522991,essv2531762,essv2521496,essv2520529,essv2558242,essv2559548,essv2576450,essv2530667,essv2561797,essv2520837,essv2557049,essv2552667,essv2532324,essv2562699,essv2569558,essv2569772,essv2527318,essv2561451,essv2562954,essv2523847,essv2553009,essv2541084,essv2542812,essv2540418,essv2549198,essv2519722,essv2559991,essv2522249,essv2566054,essv2532509,essv2528692,essv2541802,essv2535523,essv2566859,essv2569050,essv2543490,essv2556188,essv2562158,essv2539474,essv2533773,essv2555514,essv2529997,essv2573768,essv2556015,essv2543351,essv2577130,essv2575690,essv2575363,essv2538819,essv2524181,essv2574816,essv2572634,essv2560305,essv2549784,essv2571452,essv2545857,essv2574368,essv2536175,essv2537832,essv2533129,essv2563169 M 157 64 0 Samples from several populations that are part of the HapMap project. CPB2 NA06986,NA07000,NA07051,NA10847,NA11829,NA11881,NA11919,NA11931,NA12006,NA12144,NA12716,NA12750,NA12776,NA12814,NA12873,NA12874,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18520,NA18522,NA18523,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18592,NA18608,NA18853,NA18861,NA18870,NA18871,NA18909,NA18912,NA18944,NA18945,NA18949,NA18951,NA18956,NA18965,NA18970,NA19099,NA19102,NA19108,NA19129,NA19138,NA19143,NA19190,NA19225,NA19238,NA19239,NA19240 esv273625 13 45545720 45546060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584013,essv2584561,essv2583657 M 7 3 0 Samples from several populations that are part of the HapMap project. CPB2 NA19238,NA19239,NA19240 esv1489617 13 45545749 45545749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356217 S 2 1 0 CPB2 HuRef nsv900055 13 45548122 45553450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499702 S 6533 0 1 CPB2 SP50179 nsv900056 13 45556713 45570922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503570 S 6533 1 0 CPB2 SP52077 nsv900057 13 45560287 45564433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515726 S 6533 0 1 CPB2 SP56260 nsv900058 13 45560287 45572910 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503794 S 6533 0 1 CPB2 SP52113 esv2470452 13 45617191 45618678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216111 S 1 0 1 LCP1 NA18507 esv2001689 13 45617561 45618273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748600 S 1 0 1 LCP1 NA18507 nsv900059 13 45640540 45731151 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535910 S 6533 1 0 LCP1 MS12544 esv271585 13 45641746 45641922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510200,essv2503254,essv2496650,essv2511206,essv2504451,essv2505077,essv2500237,essv2501673,essv2495352,essv2510351,essv2495881,essv2505032,essv2496513,essv2496270,essv2493724,essv2506190,essv2494588,essv2507505,essv2513257,essv2495516,essv2504962,essv2503141,essv2497926,essv2502465,essv2512332,essv2493103,essv2502627,essv2505655,essv2501355,essv2504672,essv2506627,essv2499028,essv2509443,essv2497692,essv2499719 M 157 35 0 Samples from several populations that are part of the HapMap project. LCP1 NA10851,NA11881,NA11894,NA11931,NA11993,NA11995,NA12006,NA12144,NA12287,NA12414,NA12489,NA12828,NA18510,NA18511,NA18517,NA18523,NA18550,NA18638,NA18907,NA18916,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18965,NA19005,NA19093,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225 nsv819363 13 45650469 45651681 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419199 S 2 0 1 LCP1 AK1 nsv526925 13 45650672 45652735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703289 S 2026 0 1 LCP1 nsv900060 13 45702161 45763393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558719 S 6533 0 1 "" MS23495 esv2405148 13 45804709 45805209 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870299 S 1 0 1 "" NA18507 nsv64655 13 45804889 45805037 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83233 M 24 "" nsv1025 13 45918884 45946900 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9990 S 9 0 1 "" NA18956 nsv510584 13 45925862 45945287 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617405 S 4 0 1 "" CHM nsv435644 13 45932684 45939951 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466736 S 2 0 1 "" NA15510 esv1512990 13 45932686 45932686 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632934 S 2 1 0 "" HuRef esv1257075 13 45936289 45936289 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970527 S 2 1 0 "" HuRef esv1089933 13 45936616 45936695 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249863 S 2 0 1 "" HuRef esv1555619 13 45937108 45938278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356318 S 2 0 1 "" HuRef nsv498810 13 45937529 45939769 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585671 S 9 0 1 "" esv994644 13 45938750 45940277 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564838 S 3 0 1 "" HuRef esv1527313 13 45938889 45939954 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740374 S 2 0 1 "" HuRef esv1222739 13 45942310 45942310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364063 S 2 1 0 "" HuRef esv2422736 13 45966433 45967764 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221084 S 1 0 1 "" NA18507 esv2452439 13 45992577 45993662 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321628 S 1 1 0 "" NA18507 nsv1026 13 46033625 46067367 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4068 S 9 1 0 LRCH1 NA12878 esv259618 13 46191027 46191300 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394085,essv2393929,essv2393844,essv2394365 M 6 0 0 Samples from several populations that are part of the HapMap project. LRCH1 NA12878,NA12891,NA12892,NA19240 esv988509 13 46191128 46191128 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584289 S 3 1 0 LRCH1 HuRef esv1496328 13 46191129 46191129 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747001 S 2 1 0 LRCH1 HuRef nsv900061 13 46234623 46295455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524275 S 6533 1 0 ESD SP54950 nsv900062 13 46253525 46274029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590432 S 6533 1 0 ESD IS38511 nsv1027 13 46274592 46307559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6556 S 9 1 0 HTR2A NA12156 esv272088 13 46285884 46286248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494216,essv2494641,essv2502161 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18519,NA19257 nsv900063 13 46321292 46362858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600150 S 6533 0 1 HTR2A IS41848 nsv510334 13 46363576 46369576 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621397,nssv624138 M 4 0 2 HTR2A NA15510,NA18994 nsv900064 13 46402001 46457805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541729 S 6533 0 1 "" MS15479 esv1955388 13 46415681 46416202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691647 S 1 0 1 "" NA18507 esv2016523 13 46462471 46462924 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840940 S 1 0 1 "" NA18507 nsv525794 13 46541160 46565284 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701975 S 2026 1 0 "" nsv519317 13 46555923 46565284 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655360,nssv697341,nssv698775,nssv685725 M 2026 3 1 "" esv2483982 13 46586820 46588365 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178894 S 1 0 1 "" NA18507 esv2244372 13 46587297 46587990 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791335 S 1 0 1 "" NA18507 esv4875 13 46587448 46587930 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27316 S 1 0 1 Single Asian sample YH "" YH esv1003561 13 46587479 46587792 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585937 S 3 0 1 "" HuRef esv5610 13 46587489 46587797 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28051 S 1 0 1 "" SJK nsv455877 13 46599641 46626088 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533337 S 1557 0 1 "" 1780862015_A nsv832599 13 46601076 46771856 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450227 S 95 1 0 "" nsv1028 13 46643294 46658919 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6557 S 9 0 1 "" NA12156 esv4333 13 46652429 46653969 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26774 S 1 0 1 Single Asian sample YH "" YH esv2620119 13 46718263 46719704 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275725 S 1 0 1 "" NA18507 nsv455878 13 46720977 46740681 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533338 S 1557 0 1 "" 1780854257_A nsv527824 13 46737421 46739001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704320 S 2026 0 1 "" nsv455879 13 46817612 47088107 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533339 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00791 nsv455880 13 46831126 46876253 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533340 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682 esv2615563 13 46912628 46914215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318605 S 1 0 1 "" NA18507 esv2213852 13 46913543 46914004 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727321 S 1 0 1 "" NA18507 esv2801 13 46913643 46913878 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25242 S 1 0 1 Single Asian sample YH "" YH nsv64224 13 46913696 46913799 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82802 M 24 "" esv1004222 13 46913697 46913800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572915 S 3 0 1 "" HuRef esv1282067 13 46913757 46913861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073936 S 2 0 1 "" HuRef nsv528605 13 46915771 46919997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705231 S 2026 0 1 "" esv2461229 13 46930465 46931866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391811 S 1 0 1 "" NA18507 esv268814 13 46959480 46962699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518189 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv2598107 13 46970197 46971749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264807 S 1 0 1 "" NA18507 esv2347281 13 46970715 46971408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502768 S 1 0 1 "" NA18507 esv270578 13 46985749 46986041 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509741,essv2505974,essv2510491,essv2502016 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18861,NA19172,NA19257 nsv900065 13 47004734 47113875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555478 S 6533 0 1 "" MS21390 nsv528243 13 47060559 47132113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704805 S 2026 0 1 "" nsv832600 13 47081119 47239418 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450229 S 95 1 0 "" nsv499781 13 47087024 47091254 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585504 S 9 0 0 "" nsv7241 13 47089925 47122249 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6558 S 9 0 0 "" NA12156 nsv900066 13 47132113 47190846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593092 S 6533 0 1 "" IS39355 esv1566545 13 47213187 47213913 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809012 S 2 0 1 "" HuRef nsv437785 13 47227585 47231992 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467666 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18503 nsv438251 13 47227772 47228419 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470597,nssv470598 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18503,NA18504 esv271171 13 47265971 47266073 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493630,essv2507005 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA19102 nsv507695 13 47295378 47301378 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617857 S 4 1 0 "" CHM esv2383197 13 47317736 47318256 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512623 S 1 0 1 "" NA18507 esv1006301 13 47317933 47318088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575877 S 3 0 1 "" HuRef esv1611410 13 47317935 47318091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697325 S 2 0 1 "" HuRef esv271505 13 47373938 47374085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496362,essv2507926,essv2512865,essv2507519,essv2501007,essv2507317,essv2504757,essv2498810,essv2512045,essv2501861,essv2498102 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18564,NA18609,NA18638,NA18856,NA18912,NA19099,NA19138,NA19238,NA19239,NA19240 esv272344 13 47373943 47374261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580095,essv2580018 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv1029 13 47437966 47443742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9119 S 9 1 0 SUCLA2 NA12156 nsv832601 13 47467953 47633940 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450231,nssv1450230,nssv1450232 M 95 3 0 MED4,NUDT15,SUCLA2 nsv1030 13 47568830 47581048 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2902 S 9 1 0 "" NA18555 nsv1031 13 47664511 47688173 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5473 S 9 0 1 "" NA19129 nsv436664 13 47670169 47677308 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466737 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498811 13 47676652 47683787 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585672 S 9 0 1 "" esv29652 13 47680467 47683803 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13983 S 451 0 2 "" NA19099,NA19129 nsv514697 13 47681004 47682892 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628177 S 1414 0 1 "" esv272053 13 47754521 47754606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518680,essv2514771,essv2515137,essv2515712,essv2514227,essv2517761,essv2519474 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12045,NA12234,NA12812,NA12815,NA12874,NA12878 esv272691 13 47754521 47754606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581485 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv270441 13 47764980 47765263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504056,essv2509100,essv2505719,essv2506853,essv2498761 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18522,NA18861,NA19102,NA19138 esv275387 13 47796148 47796295 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585351,essv2585765 M 1250 1 1 RB1 esv29390 13 47899180 47900744 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18037 S 451 1 0 LPAR6,RB1 NA12044 esv1206120 13 47899596 47899914 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969497 S 2 0 1 LPAR6,RB1 HuRef esv1248194 13 47899947 47900106 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791908 S 2 0 1 LPAR6,RB1 HuRef nsv832602 13 47901160 48065782 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450233 S 95 0 1 LPAR6,RB1,RCBTB2 nsv832604 13 47959082 48179808 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450234 S 95 0 1 CYSLTR2,RCBTB2 esv2520493 13 47965383 47965432 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320706 S 1 0 1 RCBTB2 NA18507 esv269860 13 47992950 47993035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516534 S 157 1 0 Samples from several populations that are part of the HapMap project. RCBTB2 NA12814 nsv455881 13 48032413 48067571 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533341 S 1557 0 1 "" NINDS_163 nsv832605 13 48069306 48242971 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450236,nssv1450235 M 95 2 0 CYSLTR2 nsv525996 13 48108803 48120179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702221 S 2026 0 1 "" nsv1033 13 48139447 48148565 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4630 S 9 0 1 "" NA19129 dgv556e1 13 48181984 48370518 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23677,esv32 M 271 0 0 "" NA10863 esv1978163 13 48203576 48204013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4925439 S 1 0 1 "" NA18507 nsv64742 13 48203734 48203797 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83320 M 24 "" esv1002940 13 48203769 48203832 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582501 S 3 0 1 "" HuRef nsv64481 13 48203800 48203863 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83059 M 24 "" esv3289 13 48207943 48208255 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25730 S 1 0 1 Single Asian sample YH "" YH esv1001486 13 48207952 48208060 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568831 S 3 0 1 "" HuRef nsv64104 13 48207953 48208061 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82682 M 24 "" esv1487703 13 48208043 48208152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208539 S 2 0 1 "" HuRef nsv64438 13 48208066 48208174 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83016 M 24 "" esv273764 13 48234638 48234957 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584379,essv2583357 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270341 13 48234647 48234989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510730,essv2509830,essv2496153,essv2505256,essv2498399,essv2505938,essv2499195,essv2498800,essv2497727,essv2499780,essv2511936,essv2498265,essv2502188 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18511,NA18853,NA18858,NA18861,NA19114,NA19138,NA19147,NA19225,NA19238,NA19240,NA19257 nsv832606 13 48250213 48404010 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450237 S 95 1 0 "" esv2638541 13 48270768 48272425 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378282 S 1 0 1 "" NA18507 esv2241070 13 48271034 48271746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552692 S 1 0 1 "" NA18507 esv28764 13 48336694 48345757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17750 S 451 1 0 "" NA12828 nsv433525 13 48360955 48362222 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463406 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv2509707 13 48384460 48384650 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178149 S 1 1 0 "" NA18507 nsv1034 13 48424762 48470728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2034,nssv9120 M 9 0 2 FNDC3A NA12156,NA18555 nsv455882 13 48429552 48577158 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533342 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FNDC3A HGDP00682 esv2547809 13 48430572 48435006 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216601 S 1 0 1 "" NA18507 nsv512315 13 48430941 48434679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624895 S 1 0 1 "" 1 nsv511507 13 48430973 48438728 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626126 S 1 0 1 "" 1 dgv326n67 13 48431070 48434856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826636,nsv826635 M 31 0 17 "" AK10,AK14,AK18,AK2,AK4,NA18526,NA18547,NA18552,NA18564,NA18570,NA18582,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973 esv989553 13 48431374 48434567 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586815 S 3 1 0 "" HuRef nsv821420 13 48431374 48434856 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421041 S 1 0 1 "" NA10851 nsv498812 13 48431507 48434623 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585673 S 9 0 1 "" esv28865 13 48431530 48434856 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14444 S 451 18 3 "" NA06985,NA11931,NA11995,NA12004,NA12044,NA12239,NA12287,NA12489,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv514698 13 48431572 48434528 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628178 S 1414 0 1 "" esv993134 13 48433056 48434830 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586581 S 3 1 0 "" HuRef dgv1585n71 13 48450272 48503775 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900068,nsv900067 M 6533 0 2 FNDC3A SP50649,SP57418 nsv1035 13 48554226 48598372 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9121 S 9 0 1 FNDC3A NA12156 nsv1036 13 48636706 48671760 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4069 S 9 1 0 FNDC3A NA12878 nsv832607 13 48654459 48818895 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450238 S 95 0 1 CAB39L,CDADC1,FNDC3A,MLNR nsv900069 13 48713406 48874394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574194 S 6533 1 0 CAB39L,CDADC1 IS33529 esv2007070 13 48741212 48741668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689016 S 1 0 1 CDADC1 NA18507 nsv64013 13 48741429 48741494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82591 M 24 CDADC1 nsv507696 13 48767799 48773799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623134,nssv617858,nssv619102,nssv620534 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1939259 13 48790500 48790919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853863 S 1 0 1 CAB39L NA18507 esv4504 13 48790506 48790956 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26945 S 1 0 1 Single Asian sample YH CAB39L YH nsv1037 13 48817579 48824726 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9122 S 9 0 1 CAB39L NA12156 esv997002 13 48846396 48853192 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565128 S 3 0 1 CAB39L HuRef nsv435647 13 48848337 48852286 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466738 S 2 0 1 CAB39L NA15510 esv2539030 13 48848754 48852494 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178139 S 1 0 1 CAB39L NA18507 esv2273400 13 48849208 48852006 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990512 S 1 0 1 CAB39L NA18507 nsv512316 13 48849245 48851866 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624896 S 1 0 1 CAB39L 1 esv989296 13 48849405 48851865 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575871 S 3 0 1 CAB39L HuRef nsv64662 13 48849416 48851876 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83240 M 24 CAB39L esv268291 13 48855810 48856050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505134,essv2499482,essv2502897,essv2495398,essv2493368,essv2508869,essv2500274,essv2502819,essv2509769,essv2493612,essv2506089,essv2505826,essv2495626,essv2504973,essv2511106,essv2503501,essv2502478,essv2512338,essv2493090,essv2502670,essv2512798,essv2505582,essv2509511,essv2499715,essv2501964,essv2511584,essv2504387 M 157 27 0 Samples from several populations that are part of the HapMap project. CAB39L NA07346,NA07347,NA11995,NA12044,NA12156,NA12287,NA12776,NA12878,NA12891,NA12892,NA18508,NA18517,NA18523,NA18861,NA18916,NA18942,NA18944,NA18947,NA18948,NA18949,NA18951,NA18965,NA18980,NA19005,NA19129,NA19225,NA19239 esv272188 13 48855829 48856006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579222,essv2579433 M 7 2 0 Samples from several populations that are part of the HapMap project. CAB39L NA19239,NA19240 nsv523648 13 48903445 48984267 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699449 S 2026 1 0 CAB39L,PHF11,SETDB2 nsv900070 13 48911623 48985143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566033,nssv1579926 M 6533 0 2 CAB39L,PHF11,SETDB2 IS30562,IS35189 esv3404 13 48929324 48929646 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25845 S 1 0 1 Single Asian sample YH SETDB2 YH esv272759 13 48940733 48941081 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581970,essv2582297,essv2584371,essv2584392,essv2583734 M 7 5 0 Samples from several populations that are part of the HapMap project. SETDB2 NA12878,NA12891,NA19238,NA19239,NA19240 esv267803 13 48940734 48941080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557890,essv2575806,essv2544194,essv2531923,essv2577320,essv2544473,essv2564631,essv2578018,essv2565272,essv2537327,essv2528379,essv2557074,essv2532119,essv2537062,essv2539075,essv2527379,essv2538415,essv2542983,essv2524415,essv2561301,essv2549165,essv2522148,essv2531118,essv2567767,essv2528910,essv2570051,essv2563608,essv2535750,essv2551188,essv2569167,essv2543677,essv2562432,essv2578301,essv2573174,essv2555201,essv2529928,essv2527530,essv2555858,essv2534286,essv2573288,essv2572006,essv2526339,essv2524295,essv2530347,essv2572642,essv2545253,essv2571109,essv2546114,essv2574123,essv2548721 M 157 50 0 Samples from several populations that are part of the HapMap project. SETDB2 NA07037,NA10851,NA11830,NA11992,NA12006,NA12043,NA12414,NA12751,NA12761,NA12812,NA12878,NA12891,NA18501,NA18505,NA18517,NA18519,NA18522,NA18547,NA18550,NA18555,NA18562,NA18564,NA18571,NA18573,NA18577,NA18579,NA18593,NA18603,NA18608,NA18858,NA18861,NA18870,NA18909,NA18940,NA18942,NA18943,NA18949,NA18952,NA18956,NA18959,NA18969,NA18973,NA19114,NA19129,NA19141,NA19143,NA19172,NA19238,NA19239,NA19240 esv2319655 13 48970325 48970791 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551458 S 1 0 1 PHF11 NA18507 nsv519181 13 48992091 48996377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696665 S 2026 0 1 PHF11 nsv826637 13 48996211 48997893 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436976 S 31 0 1 PHF11 NA18542 nsv525151 13 49004562 49005290 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701223 S 2026 1 0 RCBTB1 nsv900071 13 49005290 49184219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583411,nssv1585647 M 6533 2 0 ARL11,EBPL,KPNA3,RCBTB1 IS36460,IS37591 nsv455883 13 49022622 49083205 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533343 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RCBTB1 HGDP00873 esv1507746 13 49071372 49071372 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646537 S 2 1 0 "" HuRef esv23939 13 49093735 49095063 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12903 S 451 0 1 "" NA06985 dgv1586n71 13 49164110 49279017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900073,nsv900072 M 6533 0 5 KPNA3 IS31765,IS34962,IS35271,IS37065,IS40368 nsv819200 13 49170100 49172554 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419431 S 2 0 1 KPNA3 AK1 dgv1587n71 13 49215105 49279017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900074,nsv900075 M 6533 0 2 KPNA3 IS37103,SP55021 nsv510335 13 49215270 49221270 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621398 S 4 0 1 KPNA3 NA15510 nsv1038 13 49222774 49257991 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9123 S 9 0 1 KPNA3 NA12156 nsv64311 13 49271980 49272168 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82889 M 24 "" esv5446 13 49292502 49292577 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27887 S 1 1 0 "" SJK esv2327673 13 49372708 49373157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769154 S 1 0 1 "" NA18507 esv25699 13 49373250 49375222 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18720 S 451 0 2 "" NA19147,NA19225 esv2645198 13 49410408 49413031 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242911 S 1 0 1 "" NA18507 esv2511327 13 49410531 49413646 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311554 S 1 0 1 "" NA18507 nsv820932 13 49410956 49413500 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421042 S 1 0 1 "" NA10851 esv2393598 13 49410992 49413045 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839862 S 1 0 1 "" NA18507 dgv327n67 13 49411048 49412922 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826639,nsv826638 M 31 6 0 "" AK10,AK18,AK8,NA18526,NA18547,NA18949 nsv819405 13 49411077 49413390 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419415 S 2 1 0 "" AK1 esv24076 13 49411126 49413316 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16859 S 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1085903 13 49412159 49412577 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604460 S 2 0 0 "" HuRef nsv1039 13 49427688 49453027 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1144,nssv2035 M 9 2 0 "" NA18555,NA19240 nsv517142 13 49433864 49443358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653855,nssv681712,nssv692423 M 2026 0 3 "" esv2580955 13 49494414 49495713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204169 S 1 0 1 DLEU2 NA18507 esv2085992 13 49494648 49495159 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851895 S 1 0 1 DLEU2 NA18507 nsv64412 13 49507219 49507294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82990 M 24 DLEU2 esv1970441 13 49540620 49541145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794759 S 1 0 1 DLEU2 NA18507 nsv832608 13 49576629 49786414 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450240 S 95 1 0 DLEU1,DLEU2,ST13P4 nsv900076 13 49608580 49810579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558363 S 6533 0 1 ST13P4 MS23237 nsv832609 13 49844578 49963969 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450241,nssv1450242 M 95 0 2 "" nsv826640 13 49874455 49876129 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430876 S 31 0 1 "" AK16 nsv1040 13 49939592 49988904 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9490,nssv1145,nssv6559,nssv2036,nssv4070,nssv5474 M 9 0 6 "" NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 nsv526482 13 49940259 49963837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702791 S 2026 0 1 "" esv2536067 13 49947647 49948072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312326 S 1 0 1 "" NA18507 nsv510585 13 49955885 49981784 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618900,nssv622670,nssv620060,nssv617406 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv32798 13 49958817 49964037 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94090,essv95281,essv99122,essv93645,essv93202,essv99624,essv99296,essv97745,essv96250 M 51 9 0 "" 21802,21872,21938,21972,22170,22217,22275,22278,22371 esv1010553 13 49961138 49973374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564518 S 3 0 1 "" HuRef esv2550436 13 49966651 49973612 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336942 S 1 0 1 "" NA18507 dgv16n50 13 49967003 49973089 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512317,nsv511516 M 1 0 1 "" 1 esv2027268 13 49967157 49973263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934590 S 1 0 1 "" NA18507 nsv435640 13 49967295 49973805 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466740 S 2 0 1 "" NA15510 esv4002 13 49967316 49973159 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26443 S 1 0 1 Single Asian sample YH "" YH esv6426 13 49967336 49973079 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28867 S 1 0 1 "" SJK esv2598724 13 49967336 49974506 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346375 S 1 0 1 "" NA18507 esv1004494 13 49967337 49971932 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587020 S 3 1 0 "" HuRef dgv328n67 13 49967337 49973131 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826643,nsv826641,nsv826644 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820810 13 49967337 49973131 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421043 S 1 0 1 "" NA10851 dgv17n47 13 49967347 49973084 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498814,nsv498813 M 9 0 2 "" esv22269 13 49967347 49973131 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9738 S 451 17 0 "" NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12749,NA12828,NA18505,NA18508,NA18517,NA18861,NA18907,NA19147,NA19190,NA19225,NA19257 nsv514699 13 49967412 49971792 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628179 S 1414 0 1 "" esv994199 13 49967448 49970411 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586132 S 3 1 0 "" HuRef esv33542 13 49967473 49971761 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98761,essv97592,essv95082,essv94127,essv101291,essv95261,essv99010,essv93595,essv99841,essv93237,essv99672,essv92559,essv99291,essv97706,essv100402,essv96277 M 51 16 0 "" 21606,21616,21721,21802,21805,21872,21938,21972,22086,22170,22217,22233,22275,22278,22300,22371 esv2422100 13 49970596 49971729 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022947,essv5071554,essv5030670,essv5085039,essv5009677,essv5043520,essv5112760,essv5072410,essv5123625,essv5151253,essv5086925,essv5113141,essv5147243,essv5005443,essv5071845,essv5010202,essv5048438,essv5006380,essv5027698,essv5018537,essv5143206,essv5128370,essv5038873,essv5064248,essv5071844,essv5037682,essv5105682,essv5004858,essv5079664,essv5161128,essv5133836,essv5096841,essv5122904,essv5042476,essv5076293,essv5003221,essv5012137,essv5149981,essv5132204,essv5035840,essv5118554,essv5159915,essv5080726,essv5049571,essv5041459,essv5096843,essv5084928,essv5130698,essv5134403,essv5144300,essv5049301,essv5058842,essv5109527,essv5005950,essv5042869,essv5019694,essv5052295,essv5104821,essv5003520,essv5007840,essv5123187,essv5092202,essv5121822,essv5037418,essv5049638,essv5079527,essv5025709,essv5051179,essv5089262,essv5161032,essv5031620,essv5103490,essv5082672,essv5018096,essv5148136,essv5146060,essv5082104,essv5113126,essv5138967,essv5112669,essv5106573,essv5006442,essv5135367,essv5049863,essv5116109,essv5157259,essv5078683,essv5031141,essv5034158,essv5023219,essv5105991,essv5006511,essv5013204,essv5126219,essv5073872,essv5083670,essv5091613,essv5087872,essv5081818,essv5145747,essv5025341,essv5083229,essv5041003,essv5119382,essv5143833,essv5113570,essv5015804,essv5037152,essv5037262,essv5153303,essv5091729,essv5077489,essv5039483,essv5098194,essv5110225,essv5097894,essv5027716,essv5112793,essv5067925,essv5096750,essv5062989,essv5061434,essv5119647,essv5095109,essv5015376,essv5092291,essv5074792,essv5144586,essv5012441,essv5032939,essv5122691,essv5105047,essv5128292,essv5012765,essv5089860,essv5058512,essv5083405,essv5017872,essv5002121,essv5006749,essv5043623,essv5057888,essv5136504,essv5037599,essv5014307,essv5081780,essv5083051,essv5137210,essv5015805,essv5140655,essv5054616,essv5004145,essv5077456,essv5067689,essv5126746,essv5116303,essv5074437,essv5133726,essv5131912,essv5100716,essv5016327,essv5044204,essv5051402,essv5066715,essv5107330,essv5003577,essv5065291,essv5075771,essv5058322,essv5029277,essv5066679,essv5048497,essv5094571,essv5091271,essv5067342,essv5046879,essv5029095,essv5113170,essv5155430,essv5110201,essv5091762,essv5145509,essv5018980,essv5078490,essv5078192,essv5061246,essv5049580,essv5080778,essv5066213,essv5040342,essv5038541,essv5022321,essv5051870,essv5152117,essv5126853,essv5023497,essv5119662,essv5159072,essv5036292,essv5136374,essv5064307,essv5124102,essv5049888,essv5085313,essv5119351,essv5042735,essv5012256,essv5110989,essv5076689,essv5015393,essv5111021,essv5134087,essv5066823,essv5011904,essv5130315,essv5156039,essv5015332,essv5005227,essv5077791,essv5053794,essv5160635,essv5062524,essv5044950,essv5047526,essv5097748,essv5061356,essv5088111,essv5157586,essv5136125,essv5093901,essv5128544,essv5146031,essv5118010,essv5061315,essv5011653,essv5100746,essv5044959,essv5134707,essv5083233,essv5045888,essv5105250,essv5092284,essv5018680,essv5138647,essv5049812,essv5153143,essv5035252,essv5146913,essv5097863,essv5133612,essv5092293,essv5156332,essv5012643,essv5053319,essv5117073,essv5087540,essv5019483,essv5044248,essv5109257,essv5057426,essv5091313,essv5138583,essv5014035,essv5112821,essv5106307,essv5069215,essv5108355,essv5109787,essv5030080,essv5027643,essv5051881,essv5126719,essv5046263,essv5103639,essv5116036,essv5095038,essv5053535,essv5033836,essv5044380,essv5060805,essv5016510,essv5144410,essv5120230,essv5110439,essv5004816,essv5111063,essv5139320,essv5086975,essv5083829,essv5041883,essv5117402,essv5029533,essv5160472,essv5117932,essv5100745,essv5088991,essv5146011,essv5003319,essv5144459,essv5094259,essv5115711,essv5140620,essv5003844,essv5107893,essv5030411,essv5156195,essv5097127,essv5121470,essv5048042,essv5145466,essv5080989,essv5057828,essv5111116,essv5107896,essv5037297,essv5132396,essv5053636,essv5014227,essv5028242,essv5012171,essv5119381,essv5107801,essv5150858,essv5069684,essv5010430,essv5112850,essv5117338,essv5074230,essv5030194,essv5142513,essv5095593,essv5128775,essv5026009,essv5117714,essv5128099,essv5046341,essv5159646,essv5034204,essv5040295,essv5024880,essv5082103,essv5112014,essv5024436,essv5065396,essv5105492,essv5081904,essv5081797,essv5091873,essv5057101,essv5135202,essv5112535,essv5111563,essv5052661,essv5060345,essv5031589,essv5085408,essv5151535,essv5024505,essv5125522,essv5043534,essv5055978,essv5133841,essv5117279,essv5078873,essv5132949,essv5045034,essv5112847,essv5124317,essv5040118,essv5138784,essv5078144,essv5117774,essv5093786,essv5102672,essv5139342,essv5017759,essv5026146,essv5159222,essv5052709,essv5040234,essv5111282,essv5093024,essv5077396,essv5048929,essv5155266,essv5115053,essv5045989,essv5010244,essv5115157,essv5037951,essv5151470,essv5123337,essv5030211,essv5033768,essv5032670,essv5072551,essv5035649,essv5109921,essv5161204,essv5135420,essv5131521,essv5158225,essv5111352,essv5119590,essv5022874,essv5078113,essv5071725,essv5159343,essv5132584,essv5117176,essv5144512,essv5068392,essv5058058,essv5067452,essv5070025,essv5126074,essv5022572,essv5117310,essv5005522,essv5130692,essv5071522,essv5034342,essv5042627,essv5106738,essv5081397,essv5059069,essv5087970,essv5018046,essv5101311,essv5066105,essv5079337,essv5100752,essv5045156,essv5152952,essv5023384,essv5124439,essv5135935,essv5087320,essv5157542,essv5048365,essv5026372,essv5131435,essv5133615,essv5089947,essv5155772,essv5030356,essv5150866,essv5156315,essv5106623,essv5131584,essv5082905,essv5057809,essv5082967,essv5082943,essv5015214,essv5124064,essv5122936,essv5095967,essv5159371,essv5047543,essv5026717,essv5113084,essv5155827,essv5038266,essv5160364,essv5147450,essv5129737,essv5014736,essv5092123,essv5041013,essv5088428,essv5147471,essv5050439,essv5019596,essv5067216,essv5080229,essv5133787,essv5022914,essv5013364,essv5024588,essv5115243,essv5017760,essv5115474,essv5089125,essv5014375,essv5156516,essv5097564,essv5024939,essv5158027,essv5095207,essv5059582,essv5082155,essv5006209,essv5143972,essv5073100,essv5113579,essv5133087,essv5099912,essv5087633,essv5040262,essv5035646,essv5024742,essv5065076,essv5031067,essv5107138,essv5017574,essv5022869,essv5065288,essv5046355,essv5036500,essv5058536,essv5148863,essv5044022,essv5121967,essv5123313,essv5159088,essv5073237,essv5086716,essv5057745,essv5028897,essv5091371,essv5135955,essv5137325,essv5087751,essv5030227,essv5064025,essv5072422,essv5052047,essv5019657,essv5031730,essv5061714,essv5038373,essv5035920,essv5066141,essv5007469,essv5096520,essv5130633,essv5065356,essv5089733,essv5135799,essv5155029,essv5160648,essv5036767,essv5138102,essv5056323,essv5018733,essv5040429,essv5071738,essv5080221,essv5056502,essv5105183,essv5090967,essv5115179,essv5111689,essv5022739,essv5074827,essv5018427,essv5058694,essv5160465,essv5010912,essv5024103,essv5113698,essv5107588,essv5065155,essv5157838,essv5078600,essv5101470,essv5138321,essv5067997,essv5053696,essv5014646,essv5092737,essv5014974,essv5143708,essv5090389,essv5132167,essv5020532,essv5077276,essv5065826,essv5075527,essv5034226,essv5076596,essv5040588,essv5056529,essv5121003,essv5012993,essv5112930,essv5040999,essv5064397,essv5050423,essv5069101,essv5152376,essv5087477,essv5131123,essv5058419,essv5028055,essv5104509,essv5023266,essv5076937,essv5096122,essv5157550,essv5126913,essv5059030,essv5087130,essv5135736,essv5154681,essv5025633,essv5057543,essv5075390,essv5074090,essv5081401,essv5091281,essv5102252,essv5011874,essv5079639,essv5068248,essv5067469,essv5068960,essv5059625,essv5018255,essv5048223,essv5069202,essv5154312,essv5127730,essv5109803,essv5158377,essv5135450,essv5074384,essv5101358,essv5058008,essv5150021,essv5157613,essv5008809,essv5126899,essv5111376,essv5147857,essv5058207,essv5024445,essv5154542,essv5112982,essv5020854,essv5135402,essv5020756,essv5132370,essv5028514,essv5137102,essv5151090,essv5075846,essv5081498,essv5097960,essv5035949,essv5147713,essv5099003,essv5050023,essv5003820,essv5025243,essv5070360,essv5099481,essv5004062,essv5133757,essv5136989,essv5039310,essv5108848,essv5024047,essv5132626,essv5008306,essv5023683,essv5151623,essv5047341,essv5095382,essv5154396,essv5159128,essv5011603,essv5138315,essv5029920,essv5152466,essv5145479,essv5151271,essv5115752,essv5015806,essv5038233,essv5117322,essv5132462,essv5114683,essv5143175,essv5097051,essv5109602,essv5075917,essv5016781,essv5124244,essv5156092,essv5097006,essv5040912,essv5050070,essv5014489,essv5041242,essv5052224,essv5058522,essv5008741,essv5018129,essv5114179,essv5025540,essv5086885,essv5106289,essv5041181,essv5125937,essv5079207,essv5063201,essv5117982,essv5079009,essv5093267,essv5069868,essv5127822,essv5086058,essv5003033,essv5067676,essv5153662,essv5133693,essv5057411,essv5087158,essv5044183,essv5116777,essv5059285,essv5065119,essv5022670,essv5104859,essv5137947,essv5154665,essv5155362,essv5115288,essv5160925,essv5097570,essv5047376,essv5035631,essv5078704,essv5136610,essv5160810,essv5016677,essv5075283,essv5126595,essv5033145,essv5009185,essv5003738,essv5006384,essv5027324,essv5009546,essv5092941,essv5031360,essv5143562,essv5039547,essv5106300,essv5148843,essv5013994,essv5108040,essv5094180,essv5115478,essv5153248,essv5032307,essv5143558,essv5046895,essv5021178,essv5034814,essv5093345,essv5093296,essv5067646,essv5105096,essv5102413,essv5053223,essv5065407,essv5124498,essv5058626,essv5137338,essv5128701,essv5145038,essv5116718,essv5008727,essv5095992,essv5111361,essv5035712,essv5067935,essv5079760,essv5072842,essv5093000,essv5102503,essv5161138,essv5048254,essv5028230,essv5141376,essv5053497,essv5112031,essv5037313,essv5079150,essv5087715,essv5097430,essv5018138,essv5100303,essv5136743,essv5070208,essv5043412,essv5101869,essv5108832,essv5086448,essv5041114,essv5002188,essv5117935,essv5153381,essv5050867,essv5041514,essv5070814,essv5014852,essv5157748,essv5032167,essv5039728,essv5102177,essv5158245,essv5149587,essv5117790,essv5013254,essv5071119,essv5108966,essv5124739,essv5084970,essv5041766,essv5034367,essv5084513,essv5062307,essv5106117,essv5004744,essv5024310,essv5041628,essv5011703,essv5114863,essv5059016,essv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M 1184 0 1124 "" 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esv32857 13 49974248 49981901 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98828 S 51 0 1 "" 21606 nsv526007 13 50004556 50004789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702235 S 2026 0 1 "" nsv522672 13 50015563 50017738 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706077 S 2026 1 0 "" nsv524139 13 50051476 50051733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700017 S 2026 0 1 "" nsv510336 13 50058255 50064255 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622226,nssv624139,nssv618386 M 4 0 3 "" CHM,NA10860,NA18994 esv32589 13 50063509 50064871 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97254 S 51 0 1 "" 22075 esv2158567 13 50071415 50071821 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665492 S 1 0 1 "" NA18507 esv994903 13 50133718 50133784 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582418 S 3 0 1 "" HuRef esv273333 13 50191702 50191824 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580910,essv2579324,essv2579509 M 7 3 0 Samples from several populations that are part of the HapMap project. DLEU7 NA19238,NA19239,NA19240 nsv437786 13 50216576 50229551 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467667 S 60 0 1 Samples from several populations that are part of the HapMap project. DLEU7 NA19161 esv2593545 13 50286844 50286899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382884 S 1 0 1 DLEU7 NA18507 nsv526999 13 50338934 50350752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703374 S 2026 0 1 "" esv2615732 13 50342143 50345076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197937 S 1 0 1 "" NA18507 esv24988 13 50342475 50344282 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14909 S 451 0 3 "" NA18502,NA18909,NA19225 nsv516602 13 50343561 50344115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691013,nssv671289,nssv671223,nssv669498,nssv690440,nssv681501,nssv657578,nssv660620,nssv678185,nssv686443,nssv679192,nssv661320,nssv689017 M 2026 0 13 "" nsv900077 13 50344115 50412832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566426 S 6533 0 1 RNASEH2B IS30700 esv9726 13 50346642 50346734 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32167 S 1 1 0 "" SJK nsv900078 13 50352897 50376717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585084 S 6533 0 1 "" IS37248 nsv826645 13 50381816 50382898 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432375 S 31 0 1 RNASEH2B AK20 esv2546721 13 50449555 50451075 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392069 S 1 0 1 "" NA18507 esv2167320 13 50449749 50450470 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837133 S 1 0 1 "" NA18507 esv4293 13 50449878 50450342 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26734 S 1 0 1 Single Asian sample YH "" YH esv8806 13 50449931 50450276 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31247 S 1 0 1 "" SJK nsv832610 13 50534662 50720107 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450243 S 95 1 0 FAM124A,GUCY1B2 esv1005208 13 50543026 50543026 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582465 S 3 1 0 "" HuRef esv1261341 13 50543027 50543027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605446 S 2 1 0 "" HuRef nsv518074 13 50583790 50588385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695488 S 2026 0 1 "" nsv900079 13 50609437 50637169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558339 S 6533 0 1 "" MS23227 nsv900080 13 50609437 50652874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545348 S 6533 0 1 "" MS16728 nsv507697 13 50615583 50621583 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617859,nssv620535,nssv619103 M 4 3 0 "" CHM,NA10860,NA15510 esv1077361 13 50616652 50616652 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996449 S 2 1 0 "" HuRef nsv527820 13 50622665 50622788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704315 S 2026 0 1 "" nsv523778 13 50653108 50666502 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699601 S 2026 1 0 "" nsv64581 13 50658757 50658872 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83159 M 24 "" nsv832611 13 50664473 50836315 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450244 S 95 0 1 FAM124A,INTS6,SERPINE3 nsv1041 13 50797989 50824652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9991,nssv9124 M 9 2 0 SERPINE3 NA12156,NA18956 esv259575 13 50820725 50821077 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393942,essv2393716,essv2393984,essv2394269 M 6 0 0 Samples from several populations that are part of the HapMap project. SERPINE3 NA12891,NA19238,NA19239,NA19240 esv259735 13 50820728 50821093 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398628,essv2396764,essv2400210,essv2400023,essv2394784,essv2396735,essv2398474,essv2395281,essv2396554,essv2401153,essv2399825,essv2398901,essv2400280,essv2399953,essv2399395,essv2398664,essv2398264,essv2399160,essv2401046,essv2397610,essv2395244,essv2395581,essv2397630,essv2396592,essv2399214,essv2400640,essv2398550,essv2396499,essv2395012,essv2399343,essv2396110,essv2396609,essv2396060,essv2400689,essv2396321,essv2398513,essv2395495,essv2397400,essv2399849,essv2400617,essv2397878,essv2396875,essv2400447,essv2395543,essv2398964,essv2400139,essv2399124,essv2396844,essv2395748,essv2399943,essv2400129,essv2394656,essv2398436,essv2397945,essv2398208,essv2400658,essv2395307,essv2400004,essv2394894,essv2394439,essv2396195,essv2395854,essv2398146,essv2397112,essv2395129,essv2397724,essv2395832,essv2394592,essv2398739,essv2398317,essv2400979,essv2399283,essv2395152,essv2399793,essv2399544,essv2396373,essv2398046,essv2398724,essv2399697,essv2395985,essv2397048,essv2400545,essv2394485 M 144 0 0 Samples from several populations that are part of the HapMap project. SERPINE3 NA06986,NA07000,NA07037,NA07051,NA07357,NA11831,NA11894,NA11918,NA11919,NA11931,NA11994,NA11995,NA12154,NA12156,NA12287,NA12489,NA12763,NA12776,NA12891,NA18489,NA18499,NA18501,NA18502,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18558,NA18562,NA18563,NA18566,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18953,NA18956,NA18961,NA18965,NA19005,NA19093,NA19099,NA19102,NA19108,NA19129,NA19137,NA19138,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 nsv832612 13 51074984 51260526 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450259,nssv1450255,nssv1450256,nssv1450257,nssv1450254,nssv1450248,nssv1450246,nssv1450245,nssv1450247,nssv1450252,nssv1450249,nssv1450253,nssv1450258,nssv1450251 M 95 14 0 DHRS12,WDFY2 nsv1042 13 51102446 51133647 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6560 S 9 1 0 WDFY2 NA12156 esv26805 13 51245718 51248533 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21266 S 451 3 3 DHRS12 NA12239,NA12776,NA12828,NA18502,NA18505,NA18523 esv2096973 13 51246185 51248013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880413 S 1 0 1 DHRS12 NA18507 nsv821576 13 51246300 51248533 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421044 S 1 0 1 DHRS12 NA10851 nsv64332 13 51246709 51248351 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82910 M 24 DHRS12 esv1177213 13 51246842 51247942 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335824 S 2 0 1 DHRS12 HuRef nsv900081 13 51304405 51324097 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590511 S 6533 1 0 LINC00282 IS38520 esv9209 13 51371625 51371698 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31650 S 1 1 0 "" SJK nsv507698 13 51450513 51456513 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617860,nssv623135,nssv619104,nssv620536 M 4 4 0 ATP7B CHM,NA10860,NA15510,NA18994 nsv900082 13 51453289 51607939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590512,nssv1573621 M 6533 2 0 ALG11,ATP7B,NEK3,NEK5,UTP14C IS33472,IS38520 esv1493860 13 51536344 51536521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632246 S 2 0 1 "" HuRef esv2549303 13 51564357 51565867 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275403 S 1 0 1 NEK5 NA18507 nsv428288 13 51626371 51966133 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452360 S 62 0 1 CKAP2,NEK3,THSD1,THSD1P1,TPTE2P3,VPS36 HGDP00476 nsv819887 13 51670114 51824922 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418786 S 2 1 0 "" AK1 nsv900083 13 51681121 51783839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592686 S 6533 1 0 "" IS39243 esv2453475 13 51701687 51793030 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193758 S 1 0 1 "" NA18507 nsv900084 13 51733232 52017705 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533697 S 6533 1 0 CKAP2,THSD1,TPTE2P3,VPS36 MS11276 nsv7242 13 51748934 52042129 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9492,nssv5477,nssv2037,nssv9491,nssv6561 M 9 0 0 CKAP2,THSD1,TPTE2P3,VPS36 NA12156,NA18507,NA18555,NA19129 nsv442307 13 51756793 51788011 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514700 13 51757984 51787836 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627122 S 1414 0 0 "" esv23593 13 51781468 51792885 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18620 S 451 3 0 "" NA19099,NA19190,NA19257 esv994275 13 51852937 51853708 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587034 S 3 0 1 THSD1 HuRef dgv1588n71 13 51920519 52114623 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900086,nsv900085 M 6533 0 2 CKAP2,HNRNPA1L2,TPTE2P3,VPS36 IS36241,IS41921 esv2423190 13 51932486 51933275 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231424 S 1 1 0 CKAP2 NA18507 esv1661627 13 51939889 51940501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143653 S 2 0 1 CKAP2 HuRef esv2421964 13 51949527 52058235 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066779,essv5013738,essv5031641,essv5144192,essv5147278,essv5064926,essv5017363,essv5079597,essv5056737,essv5061521,essv5098464,essv5057920,essv5051725,essv5066886,essv5007826,essv5073360,essv5043929,essv5064662,essv5117255,essv5072812,essv5074628,essv5098363,essv5055373,essv5130810,essv5119818,essv5147176,essv5134409,essv5142155,essv5002323,essv5054326,essv5030904,essv5035425,essv5081296,essv5066057,essv5031190,essv5142749,essv5113193,essv5151310,essv5016229,essv5019609,essv5121295,essv5069107,essv5017281,essv5059098,essv5023941,essv5121016,essv5033732,essv5003108,essv5070322,essv5026351,essv5056551,essv5139810,essv5122500,essv5110501,essv5005603,essv5017819,essv5067531,essv5129970,essv5066216,essv5046412,essv5103190,essv5037320,essv5094931,essv5107792,essv5061255,essv5074425,essv5099887,essv5066108,essv5002733,essv5025965,essv5056314,essv5058023,essv5158157,essv5113788,essv5061211,essv5134978,essv5027351,essv5033101,essv5034187,essv5032326,essv5116079,essv5047372,essv5089910 M 1184 0 83 TPTE2P3 NA06989,NA07014,NA07022,NA07031,NA07346,NA07349,NA12751,NA12752,NA12760,NA12829,NA12864,NA12877,NA12889,NA18155,NA18160,NA18498,NA18504,NA18994,NA19036,NA19044,NA19080,NA19099,NA19116,NA19190,NA19191,NA19236,NA19237,NA19247,NA19249,NA19257,NA19317,NA19324,NA19328,NA19397,NA19451,NA19452,NA19661,NA19662,NA19678,NA19680,NA19908,NA19982,NA20340,NA20516,NA20530,NA20539,NA20543,NA20586,NA20773,NA20786,NA20809,NA20811,NA20816,NA20845,NA20866,NA20872,NA20882,NA20890,NA20899,NA20900,NA20908,NA20910,NA20911,NA21089,NA21104,NA21107,NA21344,NA21353,NA21366,NA21378,NA21400,NA21401,NA21402,NA21404,NA21453,NA21493,NA21494,NA21512,NA21514,NA21526,NA21527,NA21615,NA21631 nsv820041 13 51959339 52178589 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418876 S 2 1 0 HNRNPA1L2,LECT1,SUGT1,TPTE2P3 AK1 nsv1044 13 51994699 52018069 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4071 S 9 1 0 TPTE2P3 NA12878 nsv442670 13 51995985 52003786 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TPTE2P3 esv21819 13 52007692 52009081 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13206 S 451 4 0 TPTE2P3 NA18502,NA18517,NA18907,NA18909 nsv821105 13 52007692 52009081 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421045 S 1 0 1 TPTE2P3 NA10851 nsv900087 13 52017705 52106031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531310 S 6533 0 1 HNRNPA1L2,TPTE2P3 MS10391 nsv819201 13 52035491 52138331 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418768 S 2 1 0 HNRNPA1L2,SUGT1,TPTE2P3 AK1 esv22786 13 52057860 52075756 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13738 S 451 0 1 TPTE2P3 NA19257 nsv900088 13 52148840 52172937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513964 S 6533 0 1 SUGT1 SP55878 esv4481 13 52179399 52179654 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26922 S 1 0 1 Single Asian sample YH LECT1 YH esv23809 13 52255905 52261180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14033 S 451 0 1 "" NA12044 nsv517434 13 52255924 52260696 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688633,nssv652012,nssv670307 M 2026 0 3 "" nsv507699 13 52256077 52262077 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620537 S 4 1 0 "" NA15510 nsv900089 13 52283335 52327454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549850 S 6533 0 1 PCDH8 MS18276 nsv523092 13 52317140 52327454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698784 S 2026 0 1 PCDH8 nsv455889 13 52317140 52364128 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533346 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH8 HGDP00682 esv29405 13 52317991 52320748 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14133 S 451 0 4 PCDH8 NA07045,NA12156,NA19129,NA19257 nsv900090 13 52327454 52393716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553086 S 6533 0 1 "" MS19721 nsv1045 13 52330332 52366806 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4072,nssv1146 M 9 2 0 "" NA12878,NA19240 esv270009 13 52331760 52332089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565763,essv2570835,essv2554313,essv2544556,essv2552313,essv2577723,essv2555091,essv2530751,essv2537665,essv2528472,essv2546658,essv2536271,essv2563412 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10847,NA11829,NA11993,NA12287,NA12414,NA12489,NA12761,NA12872,NA12873,NA12878,NA12891,NA12892 esv273478 13 52331760 52332089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581682,essv2582556,essv2583183 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2598727 13 52364861 52365892 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362165 S 1 1 0 "" NA18507 esv987863 13 52365399 52365399 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584832 S 3 1 0 "" HuRef esv1335579 13 52365400 52365400 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734259 S 2 1 0 "" HuRef nsv832613 13 52422320 52585189 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450260 S 95 1 0 OLFM4 nsv819784 13 52601442 52603579 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419391 S 2 1 0 "" AK1 esv23247 13 52672610 52674400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16748 S 451 0 1 "" NA12156 esv267569 13 52730179 52730338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503200,essv2496683,essv2511245,essv2504473,essv2508347,essv2493405,essv2504248,essv2502989,essv2496305,essv2508630,essv2505973,essv2495699,essv2504919,essv2497920,essv2502364,essv2512285,essv2500545,essv2502618,essv2506710,essv2497694,essv2499621,essv2503976 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11881,NA11894,NA11931,NA11993,NA12749,NA12776,NA18505,NA18507,NA18511,NA18592,NA18861,NA18916,NA18942,NA18945,NA18948,NA18949,NA18956,NA18965,NA19108,NA19147,NA19225 esv2614147 13 52805729 52807105 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194955 S 1 0 1 "" NA18507 esv2381644 13 52806258 52806703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620752 S 1 0 1 "" NA18507 nsv527779 13 53023625 53147154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704270 S 2026 0 1 "" nsv900091 13 53080174 53170105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599703 S 6533 0 1 "" IS41771 nsv455890 13 53082238 53113095 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533347 S 1557 0 1 "" 1780854061_A nsv1046 13 53089267 53099756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4073 S 9 1 0 "" NA12878 esv2646918 13 53119284 53120724 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233996 S 1 0 1 "" NA18507 nsv1047 13 53128841 53140365 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5478 S 9 0 1 "" NA19129 esv29637 13 53132774 53138265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14162 S 451 0 6 "" NA12044,NA18502,NA18523,NA19108,NA19114,NA19129 esv29913 13 53156414 53159346 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17600 S 451 0 1 "" NA19147 esv34743 13 53211730 53322594 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979617,essv6979618 M 771 1 0 "" NA18582 dgv557e1 13 53231210 53319335 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1172,essv7449 M 271 0 0 "" NA18582 nsv826646 13 53253103 53321462 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424524 S 31 1 0 "" NA18582 nsv900092 13 53260625 53317427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600989 S 6533 0 1 "" IS41955 nsv519254 13 53312565 53340810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696749 S 2026 0 1 "" nsv900093 13 53312565 53492293 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525547 S 6533 1 0 "" SP56689 nsv527523 13 53349651 53429288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703977 S 2026 0 1 "" esv269982 13 53376173 53378451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516345 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv818961 13 53379823 53390155 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415694 S 112 0 1 "" NA12248 nsv522802 13 53402572 53413421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698447 S 2026 0 1 "" nsv900094 13 53404632 53441517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578760 S 6533 0 1 "" IS34896 esv2428182 13 53421544 53422867 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357205 S 1 0 1 "" NA18507 esv2328327 13 53421883 53422598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4614798 S 1 0 1 "" NA18507 esv1005913 13 53437709 53439584 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564623 S 3 1 0 "" HuRef nsv1048 13 53483586 53528435 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9126 S 9 0 1 "" NA12156 esv274659 13 53504496 53504828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581794,essv2583052,essv2584593,essv2583542 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv271033 13 53504497 53504836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546417,essv2521349,essv2545627,essv2521653,essv2564317,essv2530662,essv2537640,essv2547005,essv2541163,essv2538324,essv2540393,essv2534738,essv2561282,essv2541706,essv2570069,essv2569196,essv2556369,essv2573639,essv2529455,essv2546105,essv2574182,essv2558170 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11881,NA11894,NA12003,NA12144,NA12828,NA12873,NA12878,NA12892,NA18545,NA18547,NA18552,NA18561,NA18562,NA18592,NA18593,NA18861,NA18871,NA18964,NA19093,NA19239,NA19240 nsv455891 13 53531374 53566513 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533348 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01306 nsv515622 13 53562410 53568235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664139,nssv660886,nssv677914,nssv688520 M 2026 0 4 "" nsv523121 13 53562410 53570836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698821 S 2026 0 1 "" nsv526911 13 53568213 53570836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703271 S 2026 0 1 "" nsv1049 13 53582355 53626982 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9127 S 9 0 1 "" NA12156 esv34795 13 53590000 53593929 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979594,essv6979595 M 771 0 1 "" NA18577 dgv558e1 13 53590033 53609237 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1196,essv5951 M 271 0 0 "" NA18577 nsv9071 13 53595731 53599032 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24716,nssv21094 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA18860 nsv518338 13 53686843 53710499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695767 S 2026 0 1 "" nsv818962 13 53686843 53710499 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416390 S 112 0 1 "" NA18856 nsv471132 13 53686843 53783745 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545399 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682 esv259619 13 53769005 53769275 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394161,essv2393951,essv2393797,essv2393718,essv2394058,essv2394271 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259997 13 53769021 53769299 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400239,essv2394737,essv2399012,essv2398456,essv2401137,essv2400872,essv2398902,essv2397566,essv2398082,essv2399353,essv2398666,essv2398258,essv2397355,essv2401039,essv2396935,essv2395591,essv2397656,essv2396480,essv2396123,essv2396069,essv2400848,essv2399575,essv2395051,essv2398966,essv2399482,essv2400112,essv2394620,essv2398229,essv2394401,essv2395892,essv2397524,essv2400807,essv2396999,essv2401005,essv2395145,essv2394827,essv2396368,essv2398717,essv2395955,essv2397088,essv2400523 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10851,NA11894,NA11931,NA11993,NA11995,NA12044,NA12144,NA12287,NA12489,NA12763,NA12878,NA12891,NA12892,NA18501,NA18502,NA18517,NA18523,NA18537,NA18564,NA18570,NA18571,NA18603,NA18858,NA18861,NA18870,NA18909,NA18943,NA18945,NA18947,NA18952,NA18973,NA19099,NA19108,NA19114,NA19138,NA19190,NA19238,NA19239,NA19240 esv1774030 13 53769127 53769127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806651 S 2 1 0 "" HuRef nsv64700 13 53791603 53791664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83278 M 24 "" nsv523882 13 53793700 53796202 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699724 S 2026 1 0 "" nsv522444 13 53866790 53868747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705802 S 2026 0 1 "" esv29170 13 53879602 53886099 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11645 S 451 1 0 "" NA12878 nsv900095 13 53948499 54005651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519659 S 6533 0 1 "" SP50101 nsv1050 13 54073270 54098094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9493 S 9 1 0 "" NA18507 esv270264 13 54135988 54142078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494212,essv2498332,essv2508285,essv2508203,essv2513354,essv2506474,essv2510515 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18526,NA18561,NA18579,NA18907,NA19108,NA19172 esv32904 13 54203892 54206490 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99900 S 51 0 1 "" 22086 nsv900096 13 54261418 54406486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551861 S 6533 0 1 "" MS18993 esv270664 13 54336055 54336384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521050,essv2525995,essv2568193,essv2531891,essv2525361,essv2534986,essv2564509,essv2539965,essv2544635,essv2562834,essv2538266,essv2540527,essv2524510,essv2534777,essv2561137,essv2549529,essv2519851,essv2522149,essv2528763,essv2541803,essv2563624,essv2572365,essv2559188,essv2566742,essv2578418,essv2555456,essv2555712,essv2531447,essv2573558,essv2572121,essv2526804 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA11995,NA12006,NA12156,NA12249,NA12751,NA18489,NA18526,NA18532,NA18547,NA18552,NA18555,NA18561,NA18562,NA18564,NA18566,NA18571,NA18579,NA18592,NA18603,NA18609,NA18638,NA18853,NA18940,NA18943,NA18945,NA18961,NA18964,NA18973,NA19005 nsv528493 13 54336906 54500403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705098 S 2026 0 1 "" nsv1051 13 54364547 54409293 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9128 S 9 0 1 "" NA12156 esv1062840 13 54409733 54409733 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043195 S 2 1 0 "" HuRef esv29695 13 54411572 54413457 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10731 S 451 0 1 "" NA19257 nsv523903 13 54450707 54452304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699746 S 2026 0 1 "" nsv900097 13 54461726 54535546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578761 S 6533 0 1 "" IS34896 nsv900098 13 54461726 54676670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532275 S 6533 0 1 "" MS10737 nsv471133 13 54495814 54513140 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545400 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00655 esv275590 13 54505511 54529222 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586112,essv2585883 M 1250 1 1 "" esv21693 13 54520264 54533284 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16886 S 451 1 0 "" NA15510 nsv900099 13 54526919 54669445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517765 S 6533 0 1 "" SP57367 esv1549372 13 54532231 54532434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667510 S 2 0 1 "" HuRef esv25566 13 54550881 54557329 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13053 S 451 0 1 "" NA18502 nsv437787 13 54582768 54593306 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467668 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19103 dgv1589n71 13 54603866 54728948 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900100,nsv900101 M 6533 0 2 "" IS33879,IS35470 nsv518200 13 54635835 54662634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695623 S 2026 0 1 "" nsv521367 13 54690941 56949393 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697977 S 2026 0 1 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E nsv826647 13 54743301 54744567 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433945 S 31 0 1 "" NA18526 esv270365 13 54777264 54777398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511321,essv2494413,essv2500761 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18570,NA18572,NA18973 nsv832615 13 54782467 54980136 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450262 S 95 0 1 "" nsv900102 13 54787385 54903571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525454 S 6533 0 1 "" SP56614 esv5083 13 54839137 54839693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27524 S 1 0 1 Single Asian sample YH "" YH nsv64257 13 54839184 54839473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82835 M 24 "" esv8575 13 54839186 54839471 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31016 S 1 0 1 "" SJK esv3562 13 54850565 54850761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26003 S 1 0 1 Single Asian sample YH "" YH esv1257349 13 54850630 54850719 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758866 S 2 0 1 "" HuRef nsv524440 13 54888586 54891841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700371 S 2026 0 1 "" esv21958 13 54918040 54923269 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20767 S 451 1 0 "" NA12878 nsv832616 13 55011714 55221689 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450263 S 95 1 0 "" nsv900103 13 55013404 55110717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504421 S 6533 0 1 "" SP52475 esv3278 13 55049062 55049320 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25719 S 1 0 1 Single Asian sample YH "" YH esv27847 13 55057867 55064459 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10648 S 451 1 0 "" NA12878 nsv455892 13 55077481 55153829 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533349 S 1557 0 1 "" 1780854417_A esv274100 13 55084537 55084835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580108,essv2580289,essv2580021,essv2578953 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv270990 13 55084542 55084845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557794,essv2565888,essv2540825,essv2571831,essv2546411,essv2536626,essv2522827,essv2544083,essv2556670,essv2568366,essv2545451,essv2523245,essv2577286,essv2570530,essv2521762,essv2576812,essv2550830,essv2525342,essv2535202,essv2554067,essv2544530,essv2547389,essv2529313,essv2558563,essv2564463,essv2578093,essv2553571,essv2576271,essv2564002,essv2555046,essv2530651,essv2561804,essv2537338,essv2528273,essv2557043,essv2578621,essv2537144,essv2538968,essv2561347,essv2544931,essv2563016,essv2523708,essv2552957,essv2541388,essv2538193,essv2540484,essv2534787,essv2539863,essv2549591,essv2519886,essv2522096,essv2565990,essv2532800,essv2567733,essv2567323,essv2541677,essv2570223,essv2563687,essv2553165,essv2535867,essv2572249,essv2559112,essv2566834,essv2542001,essv2556429,essv2527884,essv2562444,essv2534082,essv2578170,essv2573231,essv2555578,essv2566398,essv2529887,essv2527544,essv2555870,essv2534414,essv2522376,essv2531338,essv2573366,essv2543048,essv2577117,essv2571852,essv2526815,essv2575445,essv2575088,essv2538482,essv2526363,essv2560712,essv2574674,essv2568757,essv2571118,essv2545789,essv2574130,essv2551283,essv2538146,essv2548668,essv2533411,essv2554340,essv2547828,essv2525078,essv2563298 M 157 101 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18501,NA18510,NA18517,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18561,NA18563,NA18564,NA18566,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18945,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19238,NA19239,NA19240,NA19257 nsv900104 13 55085618 55254118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557435 S 6533 0 1 "" MS22677 esv271764 13 55145640 55146027 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512632,essv2504307,essv2493736,essv2501043 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18505,NA18517,NA18856 nsv832617 13 55148770 55311110 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450264 S 95 1 0 "" dgv1590n71 13 55195142 55472364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900105,nsv900106 M 6533 0 2 "" IS35742,MS20872 nsv455893 13 55214485 55302250 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533350 S 1557 0 1 "" NINDS_2 nsv900107 13 55243360 55434151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546207 S 6533 0 1 "" MS17114 nsv900108 13 55243360 55472364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597719 S 6533 1 0 "" IS41189 dgv1591n71 13 55243360 55608549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900111,nsv900109,nsv900110 M 6533 0 3 "" IS36787,IS41924,MS18978 esv996871 13 55246938 55246996 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567364 S 3 0 1 "" HuRef esv1325102 13 55246962 55247021 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605065 S 2 0 1 "" HuRef esv1033222 13 55262091 55262091 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973252 S 2 1 0 "" HuRef esv2407003 13 55264128 55264693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841333 S 1 0 1 "" NA18507 nsv455894 13 55329151 55403182 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533351 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00214 dgv1592n71 13 55329151 55472364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900112,nsv900113,nsv900118,nsv900116 M 6533 0 5 "" IS31563,IS37194,MS13205,SP52114,SP53041 nsv900114 13 55341224 55472364 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600640,nssv1569476 M 6533 1 1 "" IS31581,IS41906 nsv900115 13 55341224 55507137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551254,nssv1566910 M 6533 0 2 "" IS30976,MS18843 nsv900117 13 55359464 55409754 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502407 S 6533 1 0 "" SP51161 nsv471135 13 55368842 55448019 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545404,nssv545403 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00721,HGDP01323 nsv471134 13 55368842 56108951 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545401,nssv545402 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682,HGDP00876 dgv1593n71 13 55369150 55598251 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900120,nsv900119 M 6533 0 2 "" IS31137,IS35181 nsv900121 13 55381246 55482554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508538 S 6533 0 1 "" SP54579 esv2625779 13 55393129 55393969 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355229 S 1 1 0 "" NA18507 esv1583699 13 55393715 55393715 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230376 S 2 1 0 "" HuRef esv1576796 13 55393730 55393730 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705092 S 2 1 0 "" HuRef nsv900122 13 55403986 55719624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576048 S 6533 0 1 "" IS33864 nsv900123 13 55434151 55598251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581420 S 6533 0 1 "" IS35572 nsv1052 13 55558953 55593081 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9129 S 9 1 0 "" NA12156 nsv507700 13 55565196 55571196 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620538,nssv617861,nssv623136,nssv619105 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv832618 13 55632433 55798271 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450265 S 95 1 0 "" esv998091 13 55643902 55646748 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564058 S 3 1 0 "" HuRef nsv819164 13 55706024 55707650 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419295 S 2 0 1 "" AK1 nsv512318 13 55721989 55723782 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624898 S 1 0 1 "" 1 esv2580558 13 55736567 55738042 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254445 S 1 0 1 "" NA18507 nsv1053 13 55739574 55769981 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9992 S 9 1 0 "" NA18956 nsv512319 13 55748730 55751979 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624900 S 1 0 1 "" 1 esv1554087 13 55917843 55917843 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749815 S 2 1 0 "" HuRef nsv64150 13 55972211 55973727 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82728 M 24 "" nsv1055 13 56138856 56162164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2039 S 9 0 1 "" NA18555 nsv498815 13 56149078 56154254 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585676 S 9 0 1 "" nsv518435 13 56366937 56401046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695871 S 2026 0 1 "" nsv1056 13 56376210 56407640 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6562 S 9 1 0 "" NA12156 nsv900124 13 56401046 56620289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541196 S 6533 0 1 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E MS15199 esv270276 13 56425028 56425113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515802 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18969 dgv1594n71 13 56486602 56573043 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900125,nsv900126 M 6533 0 2 "" IS33879,IS36219 esv271093 13 56486987 56487158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510222,essv2511002,essv2506760,essv2495440,essv2511186,essv2504472,essv2499390,essv2507967,essv2502282,essv2500226,essv2508061,essv2513234,essv2510361,essv2502529,essv2507717,essv2503781,essv2493363,essv2505031,essv2508872,essv2502769,essv2511775,essv2510734,essv2494164,essv2493258,essv2504173,essv2502960,essv2509752,essv2496319,essv2501138,essv2493715,essv2494668,essv2508979,essv2506119,essv2500408,essv2503280,essv2497264,essv2513005,essv2494517,essv2497228,essv2497761,essv2500007,essv2504530,essv2507856,essv2511356,essv2494505,essv2500153,essv2507653,essv2512733,essv2508128,essv2508431,essv2510051,essv2496084,essv2499320,essv2512862,essv2507454,essv2505265,essv2501020,essv2498613,essv2505946,essv2507140,essv2493914,essv2513405,essv2509345,essv2507306,essv2495599,essv2511601,essv2511066,essv2497936,essv2503551,essv2493026,essv2505436,essv2497395,essv2496002,essv2502668,essv2500789,essv2501348,essv2504805,essv2506833,essv2499115,essv2509513,essv2493543,essv2498811,essv2497731,essv2510496,essv2499709,essv2512082,essv2501766,essv2498048,essv2502071,essv2495806,essv2503977,essv2511479,essv2499584,essv2513053 M 157 94 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11831,NA11918,NA11919,NA11931,NA11993,NA11994,NA12003,NA12004,NA12006,NA12045,NA12249,NA12414,NA12750,NA12751,NA12761,NA12776,NA12828,NA12878,NA12892,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18945,NA18947,NA18951,NA18952,NA18959,NA18961,NA18965,NA18973,NA19093,NA19099,NA19102,NA19114,NA19129,NA19137,NA19138,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv273631 13 56486990 56487135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579931 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv1533609 13 56487030 56487030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734498 S 2 1 0 "" HuRef dgv1595n71 13 56503828 56602824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900127,nsv900130,nsv900129,nsv900128 M 6533 0 4 "" MS18620,MS20471,SP51254,SP52553 dgv559e1 13 56523625 56729961 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3283,essv805,essv8858,essv688,essv1514,essv21790,essv23841,essv20224,essv22643,essv12000,essv9606,essv14869,essv6722,essv24000,essv1743,essv764,essv10802,essv10107,essv2468,essv22877,essv876,essv4201,essv15703,essv5569,essv12195,essv3170,essv6185,essv8733,essv10534,essv10013,essv6917,essv21820,essv21015,essv4553,essv22124,essv4492,essv8641,essv11230,essv22969,essv15551,essv8232,essv6593,essv24765,essv14174,essv16038,essv4897,essv6733,essv11812,essv14280,essv4673,essv9101,essv5815,essv1376,essv11000,essv17243,essv13614,essv22336,essv17009,essv2187,essv24432,essv12988,essv18409,essv11666,essv3028,essv24919,essv16428,essv22542,essv16497,essv21670,essv9885,essv18823,essv10487,essv17781,essv9438,essv22477,essv10342,essv7781,essv5232,essv10232,essv8934,essv4982,essv12315,essv17702,essv4041,essv8121,essv23553,essv16322,essv20920,essv15871,essv4421,essv9387,essv19594,essv21276,essv24489,essv4618,essv20395,essv12583,essv13833,essv20012,essv10684,essv15389,essv23805,essv17308,essv13764,essv19934,essv8363,essv13432,essv4292,essv20785,essv14484,essv24584,essv23509,essv14060,essv23960,essv18110,essv3736,essv11840,essv15346,essv21132,essv6251,essv21200,essv20554,essv9777,essv14996,essv19082,essv19186,essv17145,essv21973,essv18260,essv14401,essv21515,essv12751,essv7546,essv17075,essv1591,essv5222,essv7726,essv1476,essv3697,essv22512,essv24134,essv2082,essv14700,essv1180,essv434,essv22771,essv12618,essv24059,essv21436,essv23219,essv1916,essv13698,essv1138,essv12485,essv11759,essv10394,essv4733,essv20137,essv15503,essv18695,essv106,essv22240,essv24478 M 271 0 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA06985,NA06991,NA06993,NA06994,NA07019,NA07022,NA07034,NA07048,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10846,NA10847,NA10855,NA10857,NA10859,NA10860,NA11830,NA11839,NA11882,NA11992,NA11993,NA11995,NA12044,NA12056,NA12144,NA12146,NA12155,NA12156,NA12239,NA12248,NA12249,NA12707,NA12716,NA12717,NA12751,NA12752,NA12760,NA12761,NA12763,NA12801,NA12802,NA12813,NA12814,NA12815,NA12865,NA12872,NA12873,NA12874,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18515,NA18517,NA18521,NA18522,NA18523,NA18524,NA18526,NA18529,NA18532,NA18542,NA18545,NA18552,NA18561,NA18562,NA18566,NA18573,NA18594,NA18603,NA18605,NA18608,NA18611,NA18620,NA18621,NA18622,NA18624,NA18633,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18856,NA18858,NA18859,NA18861,NA18862,NA18863,NA18870,NA18912,NA18914,NA18942,NA18944,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18968,NA18972,NA18973,NA18975,NA18980,NA18981,NA18997,NA18999,NA19000,NA19007,NA19012,NA19092,NA19098,NA19099,NA19101,NA19116,NA19119,NA19127,NA19130,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19171,NA19172,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19221,NA19222,NA19223,NA19239,NA19240 nsv428289 13 56523625 56729961 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452381,nssv452402,nssv452389,nssv452388,nssv452393,nssv452392,nssv452383,nssv452400,nssv452394,nssv452391,nssv452385,nssv452384,nssv452382,nssv452379,nssv452399,nssv452395,nssv452380,nssv452397,nssv452386,nssv452390,nssv452396 M 62 17 4 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19257 esv500 13 56523625 56824435 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E nsv900131 13 56533748 56659471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557368 S 6533 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E MS22639 nsv900132 13 56539538 56659471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535724 S 6533 0 1 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E MS12432 nsv900133 13 56582074 56673101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553608 S 6533 0 1 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E MS20204 nsv9072 13 56585659 56657380 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19492,nssv18730,nssv20900,nssv21789,nssv24256,nssv20454,nssv22378,nssv24216,nssv21877,nssv22348,nssv19922,nssv21295,nssv24502,nssv26488,nssv21818,nssv23565,nssv23407 M 31 12 5 Samples from several populations that are part of the HapMap project. PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA07029,NA11830,NA12155,NA12740,NA12802,NA18504,NA18517,NA18853,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19221,NA19240 nsv900134 13 56585977 56620289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515033 S 6533 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E SP56114 nsv826648 13 56592273 56645706 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435376 S 31 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA18942 nsv510930 13 56594427 56659711 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618671 S 4 0 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E CHM dgv560e1 13 56600591 56729961 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15080,essv5132,essv14592,essv14477,essv16112,essv15216,essv18943 M 271 0 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA12005,NA18577,NA19093,NA19094,NA19100,NA19129,NA19201 essv9957 13 56601020 56805841 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA19204 nsv832619 13 56601346 56773819 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450266,nssv1450268,nssv1450269,nssv1450267 M 95 4 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E nsv1057 13 56601405 56620893 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9993 S 9 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA18956 dgv1596n71 13 56602824 56725158 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900146,nsv900148,nsv900145,nsv900144,nsv900151,nsv900135 M 6533 0 42 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E MS14683,SP50081,SP50082,SP50652,SP51281,SP51419,SP52052,SP52708,SP52835,SP54399,SP54456,SP54510,SP54516,SP54581,SP54583,SP54665,SP54704,SP54750,SP54782,SP54879,SP55055,SP55265,SP55318,SP55765,SP55804,SP56004,SP56005,SP56106,SP56107,SP56307,SP56913,SP57205,SP57217,SP57297,SP57453,SP57672,SP57865,SP57983,SP80957,SP81080,SP81097,SP81541 dgv1597n71 13 56603368 56611179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900137,nsv900136 M 6533 0 7 "" SP50637,SP52027,SP52455,SP53342,SP56518,SP56834,SP56927 dgv1598n71 13 56603368 56620289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900147,nsv900138 M 6533 0 58 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E SP50029,SP50074,SP50077,SP50087,SP50102,SP50615,SP50725,SP51040,SP51049,SP51161,SP51254,SP51307,SP51398,SP51422,SP52039,SP52080,SP52113,SP52117,SP52708,SP52925,SP53044,SP53048,SP53242,SP53333,SP53572,SP53883,SP54345,SP54402,SP54407,SP54430,SP54461,SP54551,SP54556,SP54614,SP54682,SP54769,SP54776,SP54875,SP54892,SP55660,SP55729,SP55747,SP55764,SP55789,SP55856,SP55911,SP55947,SP56007,SP56144,SP56231,SP56457,SP56828,SP57336,SP57368,SP57482,SP80953,SP80955,SP80975 nsv900139 13 56603368 56638784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515185,nssv1515469 M 6533 0 2 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E SP56132,SP56200 dgv1599n71 13 56603368 56673101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900141,nsv900140 M 6533 0 6 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E SP51226,SP54095,SP54532,SP54725,SP55569,SP57274 dgv1600n71 13 56603368 56690719 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900142,nsv900149 M 6533 2 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E IS30960,MS18307 dgv1601n71 13 56603368 56698642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900143,nsv900150 M 6533 0 2 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E IS38505,SP56096 nsv826649 13 56604199 56723862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425278 S 31 0 1 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E AK2 nsv826650 13 56604341 56611120 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421954 S 31 0 1 "" NA18547 esv2421411 13 56604813 56620289 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5103726,essv5032401,essv5065898,essv5151095,essv5154382,essv5107637,essv5104950,essv5160987,essv5041012,essv5024011,essv5027105,essv5118255,essv5073796,essv5054527,essv5052439,essv5043523,essv5113513,essv5134787,essv5085133,essv5084551,essv5055873,essv5119511,essv5112813 M 1184 0 23 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA17982,NA18108,NA18112,NA18127,NA18151,NA18155,NA18159,NA18524,NA18529,NA18544,NA18579,NA18594,NA18620,NA18622,NA18626,NA18627,NA18634,NA18740,NA18748,NA18749,NA18991,NA19009,NA19055 nsv826651 13 56608135 56609070 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427799 S 31 1 0 "" AK8 nsv509505 13 56609635 56661833 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619630,nssv623648,nssv620989 M 4 3 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA10860,NA15510,NA18994 nsv820652 13 56609653 56650416 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421047 S 1 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA10851 nsv826652 13 56609653 56650416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431585,nssv1430110,nssv1430879,nssv1429162,nssv1428599 M 31 5 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E AK10,AK14,AK16,AK18,NA18968 nsv1058 13 56610803 56726078 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9494,nssv1147 M 9 0 2 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA18507,NA19240 esv28448 13 56610824 56686891 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12987,esv21382,esv15293 M 451 28 29 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv499491 13 56611299 56648477 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585635 S 9 0 1 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E nsv514701 13 56612824 56616568 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627123 S 1414 0 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E nsv1059 13 56637480 56656866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4074 S 9 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E NA12878 dgv1602n71 13 56638784 56713669 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv900152,nsv900166,nsv900163 M 6533 5 41 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E IS30459,IS30507,IS30669,IS33136,IS34530,IS35102,IS36105,IS36153,IS36887,IS37348,IS37848,IS37999,IS38115,IS38182,IS38577,IS38592,IS38617,IS39181,IS39428,IS39660,IS40368,IS40402,IS40636,IS40748,IS40752,IS40799,IS40872,IS40944,IS41786,MS10227,MS10228,MS10802,MS12640,MS16707,MS17611,MS18274,MS18648,MS18847,MS18978,MS21252,MS21470,MS23290,SP52694,SP54057,SP81127,SP81422 dgv1603n71 13 56638784 56728672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900155,nsv900153,nsv900156,nsv900154 M 6533 0 26 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E IS33566,IS34758,IS36244,IS36287,MS16607,MS25280,SP52734,SP52886,SP53051,SP53131,SP53491,SP53503,SP53759,SP54118,SP54148,SP55075,SP55339,SP56748,SP56758,SP57137,SP57789,SP58108,SP58505,SP80961,SP81226,SP81437 nsv471367 13 56639332 56642353 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548085,nssv548084,nssv548086 M 3 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E nsv482167 13 56639332 56642353 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558528 S 1 1 0 PRR20A,PRR20B,PRR20C,PRR20D,PRR20E KB1 dgv1604n71 13 56646795 56728672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900157,nsv900181,nsv900178,nsv900171,nsv900158,nsv900164,nsv900168,nsv900170,nsv900160,nsv900172,nsv900169,nsv900177,nsv900161,nsv900176,nsv900159,nsv900179 M 6533 0 42 "" IS31044,IS31285,IS31323,IS31679,IS32282,IS35114,IS35777,IS36103,IS36173,IS36411,IS37157,IS37338,IS38183,IS38455,IS39352,IS39838,IS41204,MS20146,SP50548,SP50805,SP50834,SP51040,SP51172,SP51265,SP52027,SP52341,SP52574,SP52800,SP53259,SP53531,SP53914,SP54110,SP54838,SP55028,SP55084,SP56518,SP57706,SP57970,SP58306,SP58343,SP58409,SP81491 dgv1605n71 13 56648172 56716744 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900167,nsv900162 M 6533 4 0 "" IS39333,MS12542,MS12932,MS15317 dgv1606n71 13 56648172 56803216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900188,nsv900173,nsv900189,nsv900174,nsv900165 M 6533 0 7 "" IS31098,IS35244,IS36656,MS17537,SP57404,SP58537,SP81109 nsv436169 13 56649356 56687690 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466741 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2578158 13 56649967 56687548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191088 S 1 0 1 "" NA18507 dgv40e180 13 56650059 56690244 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004642,esv1002619 M 3 0 1 "" HuRef esv2102178 13 56650360 56687039 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648527 S 1 0 1 "" NA18507 nsv9073 13 56650401 56725064 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24742,nssv23593,nssv23435,nssv20930,nssv24228,nssv21527,nssv24254,nssv24312,nssv22408,nssv19061,nssv22468,nssv20484,nssv21124 M 31 1 11 Samples from several populations that are part of the HapMap project. "" NA10839,NA12872,NA18502,NA18504,NA18517,NA18563,NA18853,NA18860,NA18975,NA19144,NA19240 dgv41e180 13 56651124 56686891 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv992167,esv1004424 M 3 0 1 "" HuRef esv2561049 13 56651438 56687865 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364472 S 1 0 1 "" NA18507 nsv438252 13 56653475 56683831 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470600,nssv470599,nssv470603,nssv470605,nssv470602,nssv470606,nssv470601,nssv470604 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA10861,NA11995 dgv1607n71 13 56654503 56865736 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900191,nsv900190,nsv900175 M 6533 0 3 "" IS35572,IS36219,IS36722 esv2422121 13 56656271 56665499 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111913,essv5024559,essv5013208,essv5012676,essv5141827,essv5116931,essv5045026,essv5013774,essv5094833,essv5073266,essv5120744,essv5130535,essv5041072,essv5150791,essv5134790,essv5056972,essv5068709,essv5069219,essv5049924,essv5160617,essv5039955,essv5033209,essv5027638,essv5128657,essv5106745,essv5100952,essv5029497,essv5078076,essv5017838,essv5045082,essv5060335,essv5094535,essv5062304,essv5020212,essv5007536,essv5053680,essv5060696,essv5112232,essv5054135,essv5098981,essv5090639,essv5051850,essv5137589,essv5154116,essv5146305,essv5059348,essv5013721,essv5108240,essv5035435,essv5147087,essv5010920,essv5013226,essv5130426,essv5132608,essv5150232,essv5145939,essv5127702,essv5127256,essv5078534,essv5056122,essv5004682,essv5111220,essv5132811,essv5118544,essv5136925,essv5055992,essv5032446,essv5014090,essv5065870,essv5125821,essv5147650,essv5100822,essv5099080,essv5047265,essv5118629,essv5030703,essv5106711,essv5097043,essv5082779,essv5137183,essv5102701,essv5114468,essv5019372,essv5087814,essv5021768,essv5072891,essv5135643,essv5046413,essv5084699,essv5073373,essv5096352,essv5160089,essv5117264,essv5109518,essv5011579,essv5070550,essv5075604,essv5011227,essv5050789,essv5099484,essv5052088,essv5010168,essv5087052,essv5082369,essv5007033,essv5007932,essv5023923,essv5014682,essv5054203,essv5108975,essv5138937,essv5109889,essv5147423,essv5070551,essv5005652,essv5014501,essv5123610,essv5103850,essv5035200,essv5148515,essv5145233,essv5143403,essv5080065,essv5002023,essv5059962,essv5040117,essv5143781,essv5153511,essv5075490,essv5041720,essv5138143,essv5065170,essv5130685,essv5125148,essv5099851,essv5061696,essv5127450,essv5098333,essv5099345,essv5064439,essv5035958,essv5041894,essv5114832,essv5082581,essv5073422,essv5032773,essv5144416,essv5128939,essv5050948,essv5026831,essv5088652,essv5013366,essv5148137,essv5126791,essv5107032,essv5016306,essv5101384,essv5067895,essv5099234,essv5009649,essv5063231,essv5046466,essv5077629,essv5028618,essv5100690,essv5110321,essv5022460,essv5022191,essv5050089,essv5099412,essv5046944,essv5108875,essv5148539,essv5028198,essv5104538,essv5086593,essv5124856,essv5045504,essv5154977,essv5160994,essv5063211,essv5042624,essv5070030,essv5152627,essv5016892,essv5156212,essv5120386,essv5084676,essv5138898,essv5020570,essv5090264,essv5109951,essv5114040,essv5078338,essv5061289,essv5026760,essv5138098,essv5080388,essv5059690,essv5043240,essv5105877,essv5034316,essv5137192,essv5107129,essv5107547,essv5128976,essv5037892,essv5138447,essv5070509,essv5108618,essv5061953,essv5018653,essv5049878,essv5158796,essv5111178,essv5049829,essv5128344,essv5134738,essv5123113,essv5136958,essv5149760,essv5029560,essv5007406,essv5088704,essv5128746,essv5015475,essv5116208,essv5115274,essv5111092,essv5021456,essv5041448,essv5059877,essv5097437,essv5087778,essv5020463,essv5127717,essv5139994,essv5037196,essv5049735,essv5132592,essv5093425,essv5120420,essv5049125,essv5019527,essv5006135,essv5101019,essv5130610,essv5109316,essv5108697,essv5132590,essv5116819,essv5135630,essv5145942,essv5008925,essv5020680,essv5076567,essv5030689,essv5061407,essv5086970,essv5018628,essv5019229,essv5152579,essv5154876,essv5064710,essv5076590,essv5005856,essv5132755,essv5057902,essv5022742,essv5018581,essv5002419,essv5029950,essv5132452,essv5092317,essv5012085,essv5118468,essv5093336,essv5006552,essv5058737,essv5108424,essv5100271,essv5013776,essv5095134,essv5091985,essv5042245,essv5132763,essv5028232,essv5049572,essv5064420,essv5120671,essv5048803,essv5057879,essv5006254,essv5088529,essv5054267,essv5063256,essv5057058,essv5131309,essv5069113,essv5054033,essv5060015,essv5091521,essv5156107,essv5060347,essv5009534,essv5004428,essv5136515,essv5123677,essv5033212,essv5081048,essv5042706,essv5066583,essv5053774,essv5157280,essv5027539,essv5028465,essv5034723,essv5036971,essv5126629,essv5136411,essv5137702,essv5158800,essv5101499,essv5002426,essv5007887,essv5124642,essv5157907,essv5037606,essv5148082,essv5061771,essv5052035,essv5158012,essv5157413,essv5064857,essv5003793,essv5010061,essv5126894,essv5075178,essv5148224,essv5081905,essv5067318,essv5107857,essv5037187,essv5101800,essv5014594,essv5128628,essv5113509,essv5068510,essv5079080,essv5152693,essv5141445,essv5151630,essv5073026,essv5073031,essv5042695,essv5047594,essv5074412,essv5093424,essv5012500,essv5110565,essv5102556,essv5146619,essv5051365,essv5042368,essv5038204,essv5150457,essv5077221,essv5139347,essv5111771,essv5021117,essv5150487,essv5118959,essv5074597,essv5088502,essv5019057,essv5156865,essv5072166,essv5140812,essv5074997,essv5069097,essv5127805,essv5075127,essv5020984,essv5088281,essv5049824,essv5130344,essv5095312,essv5014252,essv5058377,essv5033330,essv5107923,essv5045310,essv5088587,essv5138372,essv5027384,essv5134511,essv5098196,essv5123602,essv5125721,essv5002872,essv5083176,essv5062896,essv5047093,essv5060467,essv5050687,essv5155698,essv5104825,essv5097739,essv5089808,essv5037094,essv5132206,essv5139943,essv5067873,essv5083091,essv5123147,essv5036476,essv5059792,essv5086187,essv5008977,essv5122775,essv5092883,essv5016399,essv5099683,essv5051388,essv5108685,essv5121950,essv5160225,essv5127023,essv5026119,essv5133881,essv5060513,essv5023846,essv5100189,essv5011375,essv5021408,essv5054300,essv5075011,essv5045561,essv5034602,essv5153751,essv5103647,essv5011093,essv5118226,essv5047419,essv5120052,essv5009517,essv5089991,essv5075013,essv5025148,essv5010883,essv5075409,essv5159856,essv5147485,essv5097560,essv5013381,essv5051271,essv5025373,essv5026500,essv5010467,essv5127735,essv5134472,essv5067650,essv5121740,essv5051098,essv5137681,essv5082638,essv5079910,essv5085021,essv5014746,essv5137359,essv5149252,essv5024439,essv5036378,essv5089255,essv5157882,essv5082117,essv5076396,essv5118865,essv5056453,essv5145821,essv5019392,essv5066335,essv5068791,essv5135116,essv5084603,essv5087703,essv5102475,essv5120785,essv5006622,essv5006027,essv5036234,essv5005125,essv5127678,essv5044565,essv5111774,essv5101673,essv5069201,essv5082124,essv5012712,essv5092015,essv5020461,essv5008906,essv5024959,essv5071599,essv5137859,essv5116856,essv5053177,essv5091217,essv5120769,essv5012863,essv5143597,essv5019546,essv5136085,essv5108747,essv5013353,essv5033722,essv5097901,essv5057267,essv5124047,essv5055091,essv5150418,essv5094637,essv5140756,essv5095002,essv5031230,essv5132191,essv5017373,essv5125183,essv5092491,essv5001969,essv5160846,essv5160443,essv5005173,essv5093666,essv5050937,essv5015920,essv5145834,essv5065828,essv5092314,essv5153731,essv5137420,essv5142498,essv5043572,essv5157958,essv5081484,essv5009945,essv5084711,essv5048436,essv5017755,essv5064152,essv5072331,essv5043302,essv5076249,essv5152591,essv5019926,essv5121995,essv5152965,essv5006955,essv5040645,essv5095031,essv5122136,essv5036761,essv5041668,essv5094144,essv5066500,essv5052824,essv5127720,essv5021684,essv5052978,essv5022414,essv5120428,essv5083525,essv5076830,essv5070883 M 1184 0 574 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06995,NA07056,NA07435,NA10835,NA10839,NA10850,NA10861,NA11829,NA11893,NA11993,NA11995,NA12005,NA12156,NA12249,NA12272,NA12341,NA12376,NA12386,NA12399,NA12400,NA12413,NA12489,NA12718,NA12739,NA12748,NA12749,NA12817,NA12828,NA12872,NA17965,NA17966,NA17970,NA17974,NA17979,NA17993,NA17996,NA18109,NA18117,NA18125,NA18129,NA18132,NA18133,NA18138,NA18144,NA18150,NA18153,NA18154,NA18158,NA18159,NA18484,NA18485,NA18486,NA18488,NA18489,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18532,NA18534,NA18542,NA18543,NA18544,NA18548,NA18550,NA18563,NA18577,NA18597,NA18612,NA18614,NA18621,NA18622,NA18627,NA18630,NA18635,NA18636,NA18637,NA18638,NA18639,NA18645,NA18647,NA18696,NA18748,NA18749,NA18852,NA18853,NA18854,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18914,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18944,NA18945,NA18948,NA18951,NA18952,NA18955,NA18957,NA18960,NA18962,NA18963,NA18964,NA18966,NA18971,NA18973,NA18974,NA18975,NA18977,NA18978,NA18981,NA18995,NA18997,NA19000,NA19001,NA19005,NA19009,NA19028,NA19031,NA19035,NA19038,NA19041,NA19044,NA19046,NA19055,NA19058,NA19064,NA19068,NA19076,NA19078,NA19080,NA19081,NA19088,NA19093,NA19095,NA19096,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19147,NA19148,NA19149,NA19150,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19199,NA19200,NA19201,NA19203,NA19204,NA19206,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19429,NA19430,NA19431,NA19436,NA19438,NA19439,NA19440,NA19443,NA19445,NA19446,NA19448,NA19449,NA19451,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19675,NA19677,NA19678,NA19680,NA19682,NA19683,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19718,NA19719,NA19725,NA19749,NA19751,NA19774,NA19775,NA19779,NA19781,NA19789,NA19794,NA19818,NA19819,NA19828,NA19834,NA19836,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19982,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20281,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20332,NA20333,NA20334,NA20337,NA20340,NA20341,NA20343,NA20344,NA20345,NA20346,NA20348,NA20349,NA20350,NA20356,NA20358,NA20359,NA20360,NA20363,NA20364,NA20506,NA20519,NA20521,NA20534,NA20757,NA20759,NA20768,NA20771,NA20773,NA20785,NA20786,NA20792,NA20800,NA20811,NA20813,NA20895,NA20898,NA20904,NA20910,NA21094,NA21112,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21309,NA21316,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21355,NA21356,NA21357,NA21359,NA21360,NA21363,NA21365,NA21366,NA21367,NA21368,NA21370,NA21379,NA21382,NA21383,NA21384,NA21385,NA21386,NA21388,NA21389,NA21390,NA21391,NA21399,NA21405,NA21408,NA21414,NA21415,NA21417,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21455,NA21473,NA21475,NA21476,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21717,NA21718,NA21722,NA21738,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442671 13 56656271 56676381 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv42e180 13 56656271 56680301 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv992215,esv996731 M 3 0 1 "" HuRef nsv826654 13 56657171 56686807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422121,nssv1439234,nssv1429356,nssv1438406,nssv1436978,nssv1428600 M 31 0 6 "" AK10,AK12,NA18542,NA18951,NA18973,NA18997 esv32675 13 56657400 56687078 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101487,essv99832,essv93317 M 51 0 3 "" 21603,22086,22170 nsv514702 13 56659396 56686640 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628182 S 1414 0 1 "" nsv433526 13 56659471 56673101 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463407 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 dgv7n14 13 56659471 56680301 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433528,nsv433527 M 9 0 2 "" NA18517,NA19240 nsv437165 13 56663478 56690156 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467046 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10861 dgv1608n71 13 56663478 56739785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900180,nsv900182 M 6533 0 2 "" IS36735,SP53776 dgv1609n71 13 56673101 56728672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900186,nsv900183,nsv900185,nsv900187 M 6533 0 8 "" IS41979,MS17504,SP51226,SP54095,SP54532,SP54725,SP55569,SP57274 dgv1610n71 13 56673101 56929227 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900192,nsv900184 M 6533 0 4 "" IS40067,MS13154,MS15199,MS18620 nsv437788 13 56676527 56690340 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467669 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 nsv437789 13 56680301 56882916 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467670 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv511520 13 56684418 56686200 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626140 S 1 1 0 "" 1 dgv329n67 13 56685064 56685921 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826655,nsv826656 M 31 0 16 "" AK10,AK12,AK18,AK4,AK8,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18968,NA18972,NA18999 esv8677 13 56685112 56686379 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31118 S 1 0 1 "" SJK nsv510337 13 56689156 56695156 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618387,nssv624140,nssv622227,nssv621399 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv455898 13 56690719 56711568 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533353 S 1557 0 1 "" NINDS_45 nsv818963 13 56690719 56717452 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418204,nssv1418205 M 112 0 2 "" NA19144,NA19145 nsv516990 13 56690719 56734345 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690813,nssv677915,nssv662315,nssv682057,nssv676927,nssv653255,nssv674715,nssv673472,nssv665663,nssv693957,nssv666473,nssv653568,nssv678530,nssv655989 M 2026 14 0 "" nsv522124 13 56690719 56816365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694898 S 2026 0 1 "" nsv900193 13 56690719 56910848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557369 S 6533 1 0 "" MS22639 esv29525 13 56701502 56722388 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19052 S 451 3 0 "" NA18502,NA19114,NA19147 nsv514703 13 56708292 56720560 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628183 S 1414 0 0 "" esv2422048 13 56708301 56721044 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5106700,essv5057923,essv5100948,essv5069967,essv5023192,essv5071666,essv5143189,essv5140268,essv5074917,essv5082477,essv5143984,essv5029558,essv5023597,essv5108885,essv5075942,essv5048860,essv5062452,essv5141421,essv5004453,essv5146166,essv5032407,essv5082470,essv5004357,essv5022559,essv5029988,essv5060612,essv5130792,essv5131835 M 1184 28 0 "" NA18486,NA18510,NA18516,NA19044,NA19114,NA19115,NA19140,NA19142,NA19147,NA19149,NA19185,NA19186,NA19318,NA19321,NA19360,NA19376,NA19440,NA19834,NA19836,NA19908,NA19919,NA20126,NA20301,NA20332,NA20343,NA20363,NA20364,NA21526 nsv442308 13 56708301 56721044 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818964 13 56711568 56717452 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416492 S 112 1 0 "" NA18516 nsv526710 13 56711568 56786987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703049 S 2026 0 1 "" dgv561e1 13 56739785 56790661 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13287,essv16392 M 271 0 0 "" NA19172,NA19202 dgv1611n71 13 56743090 56865736 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900196,nsv900194 M 6533 0 2 "" IS31094,MS15312 nsv471136 13 56743090 56938460 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545407,nssv545405,nssv545406 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00351,HGDP00388,HGDP00682 dgv1612n71 13 56743090 56949393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900197,nsv900195,nsv900198 M 6533 0 3 "" IS32664,IS35771,IS38220 nsv517203 13 56748616 56790893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661742,nssv661404,nssv659010,nssv660303,nssv684271,nssv668664,nssv677748,nssv674555,nssv668540,nssv671638,nssv682590,nssv652890,nssv684565,nssv668972,nssv672046,nssv669317,nssv692484,nssv677232,nssv683882,nssv684396,nssv690034,nssv658186,nssv675501,nssv690254,nssv670039,nssv664848,nssv688993,nssv677421,nssv654000,nssv696390,nssv686577,nssv660927,nssv693096,nssv665433,nssv671585,nssv665305,nssv655095,nssv688442,nssv693402,nssv668584,nssv658689,nssv674676,nssv675666,nssv664943,nssv672306,nssv659848,nssv677723,nssv660682 M 2026 0 48 "" essv14208 13 56755082 56790236 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18913 essv14947 13 56755082 56824435 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19132 nsv9074 13 56762436 56787198 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24242 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv29067 13 56763894 56790461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17673 S 451 0 2 "" NA18916,NA19108 esv2421852 13 56766542 56786987 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5044005,essv5086231,essv5128003,essv5157195,essv5141091,essv5114353,essv5031623,essv5104949,essv5085410,essv5085785,essv5127251,essv5123416,essv5126388,essv5115886,essv5081421,essv5050623,essv5013919,essv5072773,essv5104666,essv5081078,essv5033877,essv5112683,essv5160229,essv5123410,essv5125166,essv5015653,essv5068482,essv5157308,essv5069581,essv5106522,essv5121165,essv5138527,essv5010232,essv5159036,essv5098221,essv5157343,essv5048978,essv5116752,essv5090310,essv5031478,essv5057766,essv5111358,essv5152621,essv5141503,essv5005142,essv5134630,essv5066889,essv5053948,essv5142394,essv5094067,essv5104596,essv5030366,essv5041616,essv5018639,essv5111951 M 1184 0 55 "" NA18497,NA18498,NA18499,NA18912,NA18913,NA18914,NA18916,NA19027,NA19044,NA19108,NA19109,NA19131,NA19132,NA19172,NA19201,NA19202,NA19204,NA19247,NA19248,NA19249,NA19313,NA19314,NA19317,NA19332,NA19360,NA19372,NA19380,NA19381,NA19390,NA19437,NA19438,NA19446,NA19449,NA19455,NA19467,NA19657,NA19659,NA19700,NA19818,NA19828,NA19900,NA19902,NA20322,NA20341,NA20349,NA20350,NA20521,NA21355,NA21400,NA21405,NA21519,NA21578,NA21611,NA21738,NA21740 nsv514704 13 56767176 56786432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628184 S 1414 0 1 "" nsv442672 13 56767188 56786596 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv562e1 13 56772419 56777459 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13242,essv13269,essv13499 M 271 0 0 "" NA18914,NA19131,NA19201 essv8699 13 56772419 56805841 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18912 nsv455899 13 56772821 56786987 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533354 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00939 nsv818965 13 56772821 56786987 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416593 S 112 0 1 "" NA19172 nsv437791 13 56772821 56792382 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467672 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18914 nsv9075 13 56806201 56809969 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24768 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv900199 13 56818937 57277488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546208 S 6533 0 1 PCDH17 MS17114 nsv826657 13 56842548 56849839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435618 S 31 0 1 "" NA18592 nsv442309 13 56842712 56848581 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv64011 13 56857691 56857773 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82589 M 24 "" esv2627141 13 56873004 56874742 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357372 S 1 0 1 "" NA18507 esv2141163 13 56873319 56874053 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829416 S 1 0 1 "" NA18507 esv4178 13 56873417 56873978 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26619 S 1 0 1 Single Asian sample YH "" YH esv9327 13 56873503 56873849 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31768 S 1 0 1 "" SJK nsv826658 13 56875634 56876357 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436979 S 31 0 1 "" NA18542 esv1010067 13 56875634 56876485 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587128 S 3 0 1 "" HuRef esv1004769 13 56875661 56876560 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580489 S 3 0 1 "" HuRef nsv471137 13 57001071 57065106 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545408 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00903 nsv832620 13 57028661 57200264 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450270 S 95 1 0 PCDH17 nsv900200 13 57087163 57146790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518757 S 6533 0 1 PCDH17 SP57983 nsv900201 13 57100934 57218584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551809 S 6533 0 1 PCDH17 MS18978 esv29724 13 57101394 57107020 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19706 S 451 0 1 PCDH17 NA12878 nsv900202 13 57109518 57146790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499588 S 6533 0 1 PCDH17 SP50081 nsv507701 13 57122509 57128509 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620540 S 4 1 0 PCDH17 NA15510 nsv1060 13 57133857 57165294 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1148 S 9 1 0 PCDH17 NA19240 dgv1613n71 13 57139187 57196412 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900203,nsv900205 M 6533 0 4 PCDH17 IS41877,IS41955,MS22109,MS22662 dgv1614n71 13 57141569 57240468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900207,nsv900204,nsv900206 M 6533 0 5 PCDH17 IS30171,IS34797,IS35789,IS36992,IS38207 nsv900208 13 57143152 57277488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564878 S 6533 0 1 PCDH17 IS30311 nsv900209 13 57143152 57463412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579186,nssv1600423 M 6533 0 2 PCDH17 IS35028,IS41881 nsv518063 13 57152774 57156095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695475 S 2026 0 1 PCDH17 nsv526745 13 57152774 57159918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703089 S 2026 0 1 PCDH17 nsv527993 13 57156095 57159918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704516 S 2026 0 1 PCDH17 esv2623242 13 57237343 57238803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316237 S 1 0 1 "" NA18507 esv1132936 13 57237891 57237963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676916 S 2 0 1 "" HuRef esv1489470 13 57237983 57238035 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967017 S 2 0 1 "" HuRef esv22103 13 57268101 57271808 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13827 S 451 0 2 "" NA06985,NA12004 esv2862 13 57283944 57284582 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25303 S 1 0 1 Single Asian sample YH "" YH esv9109 13 57284070 57284453 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31550 S 1 0 1 "" SJK nsv64099 13 57284075 57284452 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82677 M 24 "" nsv826659 13 57319130 57320554 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436980,nssv1428602 M 31 2 0 "" AK10,NA18542 nsv900210 13 57360915 57579302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578762 S 6533 0 1 "" IS34896 esv273118 13 57413481 57413566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581595 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv1615n71 13 57421078 57579302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900212,nsv900211 M 6533 0 2 "" IS41909,MS18978 nsv1061 13 57425601 57459269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5479 S 9 1 0 "" NA19129 nsv64414 13 57426928 57426985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82992 M 24 "" esv1046478 13 57426988 57427046 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730527 S 2 0 1 "" HuRef nsv517500 13 57431554 57449354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662316,nssv677422,nssv689936,nssv686861,nssv652196,nssv662730,nssv667360,nssv682572,nssv658122,nssv688787,nssv667992 M 2026 0 11 "" dgv1616n71 13 57432003 57659167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900213,nsv900216 M 6533 0 2 "" IS36722,MS17114 esv274528 13 57454500 57456902 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580238,essv2580297,essv2580865,essv2579223,essv2579629 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 dgv1617n71 13 57484098 57618906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900215,nsv900214 M 6533 0 13 "" IS31179,IS31205,IS31335,IS31369,IS31554,IS32615,IS35145,IS35229,IS35771,IS36219,IS36656,IS39100,MS12266 dgv330n67 13 57486833 57497787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826662,nsv826660,nsv826661 M 31 0 5 "" AK2,NA18566,NA18951,NA18968,NA18973 esv26255 13 57487167 57497768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16291 S 451 0 3 "" NA12006,NA12749,NA18907 nsv442310 13 57488282 57495029 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421982 13 57488282 57497032 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079173,essv5061994,essv5159110,essv5158833,essv5143939,essv5028036,essv5074306,essv5039825,essv5098836,essv5042454,essv5016150,essv5008548,essv5099637,essv5077626,essv5087578,essv5057347,essv5079139,essv5119941,essv5143920,essv5044258,essv5153940,essv5136087,essv5057351,essv5006963,essv5116099,essv5041368,essv5021088,essv5154255,essv5052106,essv5018088,essv5138024,essv5118292,essv5006754,essv5032519,essv5023349,essv5074106,essv5052968,essv5085167,essv5135060,essv5049423,essv5133346,essv5064128,essv5065103,essv5104159,essv5025349,essv5129027,essv5088852,essv5076444,essv5024730,essv5054520,essv5077953,essv5074161,essv5074693,essv5066816,essv5021347,essv5129503,essv5145267,essv5064453,essv5160203,essv5061743,essv5131314,essv5029124,essv5157580 M 1184 0 63 "" NA11843,NA12006,NA12336,NA12342,NA12739,NA12749,NA12750,NA12865,NA12873,NA12875,NA17981,NA18101,NA18118,NA18147,NA18149,NA18157,NA18566,NA18595,NA18757,NA18939,NA18948,NA18951,NA18952,NA18953,NA18965,NA18968,NA19028,NA19083,NA19328,NA19649,NA19682,NA19683,NA19719,NA19721,NA20334,NA20335,NA20506,NA20517,NA20519,NA20543,NA20752,NA20755,NA20769,NA20795,NA20809,NA20810,NA20811,NA20819,NA20845,NA20854,NA20866,NA21094,NA21111,NA21117,NA21311,NA21355,NA21391,NA21421,NA21438,NA21485,NA21510,NA21529,NA21632 nsv510586 13 57490690 57498786 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617407 S 4 0 1 "" CHM nsv517720 13 57491658 57497032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666587,nssv688443,nssv675855,nssv663516,nssv680424,nssv671981,nssv681250,nssv682980,nssv664350,nssv652976,nssv675868,nssv692578,nssv678237,nssv662105,nssv684862,nssv668244,nssv688832,nssv662597,nssv655499,nssv655964,nssv668754,nssv656072,nssv659867,nssv677187,nssv666015,nssv661856,nssv681214,nssv668170,nssv679944,nssv663921,nssv678695,nssv653302,nssv676546,nssv665725,nssv676466,nssv690625,nssv681665 M 2026 0 37 "" esv271161 13 57519036 57519337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575941,essv2540735,essv2546556,essv2525890,essv2542414,essv2536606,essv2556481,essv2545494,essv2531892,essv2577298,essv2548565,essv2521883,essv2576638,essv2525425,essv2554206,essv2520563,essv2547155,essv2529360,essv2558286,essv2564321,essv2578094,essv2559436,essv2565240,essv2564166,essv2530766,essv2561803,essv2537620,essv2546743,essv2532244,essv2578798,essv2558927,essv2536886,essv2527402,essv2544592,essv2562977,essv2523910,essv2538442,essv2543005,essv2540396,essv2524411,essv2564858,essv2534615,essv2549427,essv2519862,essv2559806,essv2521931,essv2566295,essv2531256,essv2532925,essv2567892,essv2528862,essv2567643,essv2541571,essv2570206,essv2553203,essv2572260,essv2559094,essv2568972,essv2543421,essv2528071,essv2562224,essv2578444,essv2573234,essv2555422,essv2533637,essv2555682,essv2530044,essv2573899,essv2527537,essv2555857,essv2534358,essv2522503,essv2531498,essv2573608,essv2543275,essv2526865,essv2526499,essv2560840,essv2568654,essv2560408,essv2571180,essv2537762,essv2548903,essv2532979,essv2554339,essv2525006,essv2563407,essv2558140 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11994,NA12003,NA12006,NA12043,NA12045,NA12144,NA12154,NA12156,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12828,NA12873,NA12874,NA12878,NA12892,NA18505,NA18510,NA18516,NA18517,NA18522,NA18526,NA18532,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18638,NA18861,NA18870,NA18907,NA18909,NA18940,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA19005,NA19114,NA19137,NA19147,NA19190,NA19238 esv274209 13 57519041 57519349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580199,essv2579821,essv2580823,essv2579044,essv2579483 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1358666 13 57519067 57519067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249365 S 2 1 0 "" HuRef dgv1618n71 13 57545863 57624798 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900218,nsv900217 M 6533 0 3 "" IS31330,IS37999,MS15199 nsv818967 13 57555675 57571289 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417923 S 112 1 0 "" NA18852 nsv518427 13 57566704 57571289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695862 S 2026 0 1 "" dgv1619n71 13 57591791 57666675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900220,nsv900221,nsv900219 M 6533 0 5 "" SP53276,SP54072,SP54389,SP56830,SP57671 dgv226n27 13 57607912 57661603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455900,nsv455901 M 1557 0 2 "" HGDP00818,HGDP01095 esv269580 13 57659392 57659542 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558184,essv2525980,essv2545695,essv2521700,essv2544401,essv2558443,essv2564184,essv2555152,essv2537299,essv2546770,essv2557185,essv2578514,essv2550101,essv2552875,essv2541160,essv2538231,essv2565004,essv2534944,essv2561139,essv2539804,essv2549484,essv2559954,essv2522210,essv2566291,essv2531266,essv2532707,essv2568045,essv2567449,essv2569891,essv2572546,essv2559129,essv2542112,essv2543718,essv2555403,essv2533656,essv2567219,essv2529847,essv2534193,essv2522417,essv2531431,essv2573445,essv2572078,essv2526868,essv2538121,essv2554368,essv2524947 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07357,NA10851,NA11918,NA12003,NA12144,NA12414,NA12750,NA12828,NA12872,NA12878,NA12892,NA18501,NA18510,NA18511,NA18542,NA18545,NA18547,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18609,NA18638,NA18856,NA18870,NA18943,NA18944,NA18947,NA18949,NA18959,NA18960,NA18961,NA18964,NA18973,NA19005 esv274419 13 57659399 57659688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581823,essv2582942 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv818968 13 57688067 57698033 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417130 S 112 1 0 "" NA18537 nsv826663 13 57691638 57699755 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439937 S 31 1 0 "" NA18537 nsv1062 13 57695924 57728218 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1149 S 9 1 0 "" NA19240 esv989707 13 57727053 57734351 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565635 S 3 0 1 "" HuRef nsv1063 13 57783638 57817199 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5480 S 9 1 0 "" NA19129 nsv509506 13 57805834 57817507 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619631 S 4 1 0 "" NA10860 esv988680 13 57812498 57813544 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565680 S 3 1 0 "" HuRef esv1543798 13 57813324 57813324 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878213 S 2 1 0 "" HuRef esv997862 13 57818946 57821139 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565117 S 3 1 0 "" HuRef nsv900222 13 57827325 57925604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551811 S 6533 0 1 "" MS18978 dgv1620n71 13 57909712 58045531 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900224,nsv900223 M 6533 2 0 "" MS18873,SP56811 nsv900225 13 57955513 58019803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587568 S 6533 0 1 "" IS38065 nsv526851 13 58019803 58021020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703209 S 2026 0 1 "" esv1328661 13 58052487 58052487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846117 S 2 1 0 "" HuRef nsv900226 13 58193386 58237282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562513 S 6533 0 1 "" MS25617 nsv519764 13 58195136 58199168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697037 S 2026 0 1 "" dgv1621n71 13 58210801 58489042 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900227,nsv900228 M 6533 2 0 "" SP50074,SP52497 nsv64070 13 58211382 58211681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82648 M 24 "" nsv900229 13 58223245 58270439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503748 S 6533 1 0 "" SP52101 nsv1064 13 58234013 58254738 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9130 S 9 0 1 "" NA12156 nsv900230 13 58242214 58314120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588234 S 6533 0 1 "" IS38176 esv1076820 13 58245362 58245362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327488 S 2 1 0 "" HuRef esv269562 13 58255593 58255932 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504315,essv2493613,essv2508983,essv2497680 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18517,NA18522,NA19147 nsv524769 13 58259783 58266058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700760 S 2026 0 1 "" dgv1622n71 13 58262351 58314120 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900232,nsv900233,nsv900231 M 6533 0 5 "" IS33616,IS35911,IS39718,MS17611,SP54030 nsv900234 13 58262351 58372560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591757,nssv1567400,nssv1567982 M 6533 0 3 "" IS31074,IS31179,IS39011 nsv519994 13 58266058 58271006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697167 S 2026 0 1 "" nsv525820 13 58266058 58275096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702006 S 2026 0 1 "" dgv1623n71 13 58266058 58285077 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900235,nsv900236 M 6533 3 0 "" SP54822,SP81145,SP81488 nsv522995 13 58270439 58271006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698665 S 2026 0 1 "" esv29534 13 58272075 58275623 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15059 S 451 0 1 "" NA12156 nsv515982 13 58272829 58275096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657838,nssv690599,nssv691156,nssv665580,nssv660213,nssv661463,nssv674118,nssv660014,nssv693740 M 2026 0 9 "" esv2505606 13 58275452 58276309 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245070 S 1 1 0 "" NA18507 esv268409 13 58275654 58275983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536408,essv2522921,essv2556508,essv2568161,essv2531887,essv2576708,essv2550713,essv2553942,essv2547201,essv2577956,essv2553686,essv2559442,essv2530654,essv2562612,essv2569438,essv2558732,essv2569673,essv2544630,essv2563009,essv2523631,essv2541168,essv2538449,essv2542959,essv2540500,essv2524703,essv2565000,essv2534943,essv2539664,essv2549387,essv2560029,essv2522248,essv2566080,essv2532642,essv2528887,essv2541710,essv2570060,essv2563807,essv2553454,essv2568942,essv2527999,essv2562322,essv2533900,essv2578210,essv2573157,essv2555406,essv2533438,essv2555667,essv2567149,essv2529979,essv2527420,essv2522390,essv2531443,essv2543171,essv2526771,essv2538647,essv2523984,essv2530415,essv2560179,essv2571151,essv2546096,essv2574384,essv2533165,essv2525203,essv2563311 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA10847,NA11920,NA11931,NA11994,NA11995,NA12006,NA12154,NA12155,NA12287,NA12717,NA12761,NA12763,NA12776,NA12873,NA18507,NA18508,NA18516,NA18520,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18579,NA18592,NA18593,NA18603,NA18605,NA18861,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18952,NA18960,NA18961,NA18965,NA19005,NA19108,NA19129,NA19141,NA19190,NA19238,NA19239,NA19240 esv273043 13 58275660 58275768 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580988,essv2579539 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270472 13 58294858 58295199 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516670,essv2516945,essv2514144,essv2518653,essv2515448,essv2518471,essv2516605,essv2515587,essv2515904,essv2514247,essv2517835,essv2516160,essv2516834,essv2517218,essv2513921,essv2515211,essv2518846,essv2518275,essv2513588 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11931,NA12043,NA12045,NA12249,NA12287,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19143,NA19238,NA19239,NA19240 esv273923 13 58294863 58295194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582126,essv2582327,essv2583157,essv2584165,essv2584811,essv2583562 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1023753 13 58294896 58294896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704584 S 2 1 0 "" HuRef nsv520208 13 58551843 58561359 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661874,nssv688761,nssv671469 M 2026 0 3 "" esv26133 13 58620889 58622537 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16200 S 451 0 1 "" NA19257 nsv826665 13 58679903 58680504 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432376 S 31 1 0 "" AK20 nsv832621 13 58682625 58836694 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450271,nssv1450273 M 95 2 0 "" nsv507702 13 58753328 58759328 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623137 S 4 1 0 "" NA18994 nsv507703 13 58916730 58922730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619106,nssv617862 M 4 2 0 "" CHM,NA10860 esv271934 13 58930529 58930843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536792,essv2522857,essv2570921,essv2568276,essv2570407,essv2576608,essv2520728,essv2529274,essv2576156,essv2569680,essv2549158,essv2534209,essv2543127,essv2574993,essv2538519,essv2547682 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11920,NA11931,NA11993,NA11995,NA12044,NA12154,NA12716,NA12749,NA12814,NA18520,NA18564,NA18959,NA18965,NA19102,NA19108 nsv900237 13 59039048 59449022 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563296 S 6533 0 1 DIAPH3 MS25950 esv2483493 13 59069805 59071489 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234883 S 1 0 1 "" NA18507 esv2026330 13 59070301 59071029 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000994 S 1 0 1 "" NA18507 esv4505 13 59070445 59070878 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26946 S 1 0 1 Single Asian sample YH "" YH esv1127925 13 59070500 59070833 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860456 S 2 0 1 "" HuRef esv5732 13 59070506 59070820 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28173 S 1 0 1 "" SJK nsv1066 13 59089309 59134110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9131 S 9 0 1 "" NA12156 nsv64385 13 59096797 59103788 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82963 M 24 "" esv268647 13 59190244 59190329 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513993 S 157 1 0 Samples from several populations that are part of the HapMap project. DIAPH3 NA19143 nsv507704 13 59206629 59212629 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619107,nssv617863,nssv623138 M 4 3 0 DIAPH3 CHM,NA10860,NA18994 nsv900238 13 59268311 59308393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503927 S 6533 0 1 DIAPH3 SP52131 nsv519334 13 59308393 59331525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696798 S 2026 0 1 DIAPH3 esv268908 13 59363005 59363377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510248,essv2493362,essv2508143,essv2513096 M 157 4 0 Samples from several populations that are part of the HapMap project. DIAPH3 NA10847,NA10851,NA12776,NA18579 nsv832622 13 59496878 59695553 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450274,nssv1450275,nssv1450276,nssv1450277 M 95 1 3 DIAPH3 esv1720162 13 59509169 59509169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701238 S 2 1 0 DIAPH3 HuRef nsv64137 13 59520940 59521078 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82715 M 24 DIAPH3 nsv64931 13 59525116 59533672 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83509 M 24 DIAPH3 esv6903 13 59684148 59684488 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29344 S 1 0 1 "" SJK nsv900239 13 59692355 59816454 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547976 S 6533 1 0 "" MS17658 nsv455903 13 59875087 60007964 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533357 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TDRD3 HGDP00682 nsv523359 13 59875087 60022262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699108 S 2026 0 1 TDRD3 esv29450 13 59966567 59986066 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21354 S 451 1 0 TDRD3 NA12878 esv267618 13 60060439 60060771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575892,essv2536573,essv2523206,essv2548187,essv2550374,essv2535122,essv2554299,essv2544558,essv2559607,essv2576255,essv2561901,essv2537496,essv2528621,essv2547032,essv2532182,essv2578710,essv2552922,essv2572187,essv2566704,essv2569005,essv2528060,essv2533837,essv2536334,essv2538087,essv2533090,essv2554454,essv2563175,essv2557987 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA10847,NA10851,NA11830,NA11920,NA12004,NA12045,NA12234,NA12249,NA12287,NA12414,NA12776,NA12814,NA12874,NA12878,NA12891,NA12892,NA18505,NA18510,NA18542,NA18609,NA18853,NA18861,NA18907,NA18916 esv272234 13 60060441 60060773 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582136,essv2582708,essv2583029 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv900240 13 60093488 60144827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580343,nssv1576868,nssv1565735 M 6533 3 0 "" IS30515,IS34289,IS35277 nsv521268 13 60115897 60122519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692115,nssv690794 M 2026 0 2 "" nsv900241 13 60115897 60266022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519136 S 6533 1 0 "" SP80957 esv269133 13 60119150 60120439 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536713,essv2521718,essv2576842,essv2554190,essv2520386,essv2564711,essv2578110,essv2559423,essv2565223,essv2532200,essv2569570,essv2558785,essv2562979,essv2542981,essv2540439,essv2524393,essv2534822,essv2560055,essv2532582,essv2570246,essv2553271,essv2572573,essv2559002,essv2555400,essv2555794,essv2555994,essv2573666,essv2554432,essv2563356 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA11920,NA12144,NA12154,NA12287,NA12716,NA12751,NA12761,NA12776,NA12812,NA18505,NA18508,NA18516,NA18532,NA18550,NA18552,NA18555,NA18561,NA18570,NA18576,NA18593,NA18605,NA18609,NA18638,NA18943,NA18945,NA18956,NA18964 esv32591 13 60151038 60154881 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100063 S 51 0 1 "" 22086 esv1206124 13 60184429 60185494 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632984 S 2 0 1 "" HuRef esv1504664 13 60187753 60187753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184500 S 2 1 0 "" HuRef esv2390186 13 60198656 60199099 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567688 S 1 0 1 "" NA18507 nsv832623 13 60201819 60366577 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450278,nssv1450279 M 95 2 0 "" nsv512320 13 60212810 60214470 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624901 S 1 0 1 "" 1 esv1548282 13 60213187 60214176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363763 S 2 0 1 "" HuRef esv270682 13 60230405 60230741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565690,essv2571732,essv2542477,essv2570945,essv2548463,essv2569279,essv2561520,essv2542041,essv2543479,essv2527978,essv2526520 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11840,NA11919,NA11993,NA12045,NA18508,NA18523,NA18856,NA18870,NA18907,NA19114 esv1008369 13 60260000 60260098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584567 S 3 0 1 "" HuRef esv1654463 13 60260003 60260102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268565 S 2 0 1 "" HuRef nsv64634 13 60260091 60260191 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83212 M 24 "" esv272282 13 60265377 60265494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580107,essv2579929,essv2580831 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv267759 13 60265378 60265706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540675,essv2526231,essv2556684,essv2545513,essv2532014,essv2577645,essv2548308,essv2535271,essv2554214,essv2544439,essv2552285,essv2520616,essv2547437,essv2564475,essv2553720,essv2576141,essv2564202,essv2555172,essv2561896,essv2537688,essv2546779,essv2557298,essv2532188,essv2552945,essv2541333,essv2538257,essv2542806,essv2524525,essv2564802,essv2534766,essv2561157,essv2539876,essv2549288,essv2519825,essv2560081,essv2522242,essv2566185,essv2532732,essv2528656,essv2567408,essv2541467,essv2553253,essv2535788,essv2534079,essv2573004,essv2533538,essv2555740,essv2566419,essv2534179,essv2522641,essv2531377,essv2573373,essv2543145,essv2577045,essv2525558,essv2523991,essv2536099,essv2537778,essv2547778,essv2563530 M 157 60 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07347,NA10847,NA11831,NA11918,NA11994,NA12003,NA12006,NA12043,NA12045,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12751,NA12763,NA12814,NA12828,NA12872,NA12874,NA12878,NA12892,NA18499,NA18505,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18605,NA18608,NA18916,NA18942,NA18944,NA18945,NA18948,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19129 nsv832624 13 60281649 60451975 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450280 S 95 1 0 "" nsv1067 13 60337559 60371635 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9132,nssv4075,nssv9994,nssv2040 M 9 4 0 "" NA12156,NA12878,NA18555,NA18956 nsv509507 13 60358438 60360664 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619632,nssv623649 M 4 2 0 "" NA10860,NA18994 esv1010988 13 60360301 60360592 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563506 S 3 1 0 "" HuRef esv273032 13 60360315 60366391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582238,essv2582403,essv2583088 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv270289 13 60360315 60366426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565755,essv2540997,essv2571588,essv2521094,essv2526239,essv2542601,essv2522907,essv2570769,essv2545349,essv2523321,essv2531997,essv2577412,essv2570418,essv2548445,essv2521630,essv2576706,essv2550711,essv2535141,essv2544353,essv2552224,essv2547347,essv2558444,essv2564773,essv2553710,essv2565337,essv2576269,essv2520041,essv2554939,essv2530534,essv2561942,essv2537192,essv2528393,essv2546731,essv2557137,essv2552407,essv2551836,essv2562605,essv2578531,essv2536872,essv2569639,essv2527240,essv2561669,essv2544700,essv2562982,essv2523790,essv2541272,essv2538376,essv2542666,essv2540506,essv2524354,essv2564890,essv2534524,essv2561110,essv2539626,essv2549196,essv2519586,essv2560031,essv2521901,essv2566155,essv2530940,essv2532859,essv2567945,essv2528836,essv2541873,essv2570322,essv2563856,essv2553139,essv2535724,essv2572191,essv2559120,essv2568892,essv2543702,essv2556394,essv2562394,essv2534159,essv2578192,essv2573251,essv2555322,essv2533521,essv2555766,essv2567209,essv2566516,essv2530155,essv2573911,essv2527525,essv2557740,essv2555972,essv2534258,essv2522640,essv2531460,essv2573352,essv2543143,essv2577125,essv2571849,essv2526992,essv2529530,essv2575377,essv2560796,essv2530446,essv2572716,essv2568688,essv2545027,essv2560397,essv2549842,essv2535936,essv2533286,essv2525075 M 157 107 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07357,NA11829,NA11831,NA11840,NA11894,NA11918,NA11919,NA11931,NA11993,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12414,NA12489,NA12717,NA12750,NA12751,NA12763,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18507,NA18510,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19137,NA19141,NA19143,NA19147,NA19172,NA19190,NA19225 esv259604 13 60362826 60363101 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394218 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1570103 13 60363029 60363029 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264641 S 2 1 0 "" HuRef nsv832626 13 60443192 60596234 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450281 S 95 1 0 "" nsv510338 13 60448141 60454141 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622228 S 4 0 1 "" NA10860 nsv511514 13 60449101 60454689 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626134 S 1 0 1 "" 1 nsv900242 13 60449101 60498602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601057 S 6533 0 1 "" IS41964 esv1161319 13 60449460 60449460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988591 S 2 1 0 "" HuRef esv1289071 13 60449894 60450148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956329 S 2 0 1 "" HuRef nsv512321 13 60450750 60452302 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624902 S 1 0 1 "" 1 esv2233452 13 60450856 60452060 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986559 S 1 0 1 "" NA18507 esv21868 13 60451074 60452007 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15564 S 451 0 4 "" NA07037,NA12239,NA12828,NA19129 nsv528594 13 60485016 60491887 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705220 S 2026 1 0 "" nsv832627 13 60540812 60727218 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450282 S 95 1 0 MIR3169 esv270245 13 60574061 60574271 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495305,essv2512247,essv2508546,essv2503841,essv2496615,essv2511839,essv2510591,essv2494355,essv2504143,essv2509799,essv2501084,essv2506389,essv2494491,essv2505929,essv2501497,essv2509593,essv2498808,essv2499731 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12155,NA12717,NA12761,NA18486,NA18499,NA18501,NA18502,NA18505,NA18508,NA18516,NA18566,NA18572,NA18861,NA19093,NA19129,NA19138,NA19225 esv272022 13 60579737 60585863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503213,essv2505122,essv2508510,essv2503842,essv2508977,essv2507086,essv2501358 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11995,NA12717,NA12761,NA18522,NA18870,NA19093 nsv507705 13 60607342 60613342 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619108 S 4 1 0 "" NA10860 nsv900243 13 60609164 60697270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557766 S 6533 0 1 MIR3169 MS22858 esv2422029 13 60611470 60616344 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070285,essv5099083,essv5113910,essv5022612,essv5058199,essv5016864,essv5096673,essv5126775,essv5063880,essv5072777,essv5108897,essv5091769,essv5093821,essv5078247,essv5054572,essv5022135 M 1184 0 16 "" NA18853,NA18854,NA18867,NA19140,NA19327,NA19430,NA19711,NA19834,NA19901,NA20295,NA20334,NA21333,NA21364,NA21435,NA21647,NA21648 nsv442311 13 60611470 60616344 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514705 13 60613692 60616232 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628185 S 1414 0 1 "" esv274238 13 60632458 60633285 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580679,essv2578983,essv2579395 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268408 13 60632468 60633258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575930,essv2540978,essv2521252,essv2542580,essv2522716,essv2570920,essv2556728,essv2545475,essv2523259,essv2577626,essv2548563,essv2521500,essv2558684,essv2564402,essv2559508,essv2530886,essv2537390,essv2546683,essv2540157,essv2520805,essv2556944,essv2552361,essv2551814,essv2562704,essv2578728,essv2550218,essv2558934,essv2527188,essv2561356,essv2544588,essv2563039,essv2523833,essv2541294,essv2542984,essv2540631,essv2524490,essv2534741,essv2560999,essv2549220,essv2566187,essv2531010,essv2568039,essv2528892,essv2567581,essv2570199,essv2553371,essv2535501,essv2566806,essv2550965,essv2568876,essv2543412,essv2556453,essv2539334,essv2533842,essv2567215,essv2573820,essv2555877,essv2522547,essv2531331,essv2573728,essv2543341,essv2571962,essv2526807,essv2529563,essv2575433,essv2575059,essv2526621,essv2574837,essv2530249,essv2545163,essv2549786,essv2571276,essv2574155,essv2551592,essv2536135,essv2537928,essv2563458,essv2558055 M 157 78 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA10847,NA10851,NA11830,NA11831,NA11894,NA11919,NA11931,NA11993,NA11994,NA12003,NA12004,NA12043,NA12045,NA12144,NA12750,NA12751,NA12776,NA12873,NA12878,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18507,NA18510,NA18511,NA18516,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18561,NA18562,NA18564,NA18572,NA18573,NA18577,NA18579,NA18582,NA18593,NA18605,NA18608,NA18853,NA18858,NA18861,NA18870,NA18871,NA18912,NA18916,NA18947,NA18951,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19093,NA19099,NA19102,NA19114,NA19138,NA19141,NA19172,NA19225,NA19238,NA19240,NA19257 nsv516139 13 60636792 60642696 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684669,nssv666448,nssv690795 M 2026 0 3 "" nsv900244 13 60667350 60754667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531274 S 6533 0 1 MIR3169 MS10386 esv267538 13 60685385 60685691 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558070,essv2575835,essv2540992,essv2521413,essv2542320,essv2523198,essv2570686,essv2576900,essv2558694,essv2559667,essv2565296,essv2530570,essv2537506,essv2546757,essv2539939,essv2520914,essv2557181,essv2552514,essv2551821,essv2532434,essv2562674,essv2569398,essv2550139,essv2536818,essv2538915,essv2569705,essv2527128,essv2561679,essv2562957,essv2523823,essv2540548,essv2534638,essv2561037,essv2539866,essv2549190,essv2560070,essv2528731,essv2567555,essv2570276,essv2553146,essv2559121,essv2566783,essv2541952,essv2551021,essv2543553,essv2556426,essv2528064,essv2562312,essv2539446,essv2555386,essv2567126,essv2555868,essv2531633,essv2529674,essv2575386,essv2575222,essv2530209,essv2572899,essv2568591,essv2560297,essv2571417,essv2545959,essv2574462,essv2551345,essv2563325 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA10851,NA11830,NA11831,NA11894,NA11919,NA12004,NA12044,NA12154,NA12750,NA12776,NA12812,NA12873,NA12878,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18552,NA18561,NA18562,NA18563,NA18564,NA18570,NA18579,NA18582,NA18593,NA18605,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18943,NA18947,NA18956,NA18961,NA19093,NA19099,NA19102,NA19141,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv274088 13 60685385 60685725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581885,essv2582998,essv2584019,essv2584624,essv2583812 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv2513332 13 60688660 60703582 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300841 S 1 0 1 "" NA18507 nsv518287 13 60765725 60771380 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694222 S 2026 1 0 "" nsv900245 13 60771380 60955699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546210 S 6533 0 1 PCDH20 MS17114 nsv455904 13 60781624 60851407 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533358 S 1557 0 1 "" 1780862312_A esv1270419 13 60824460 60824460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918426 S 2 1 0 "" HuRef nsv521309 13 60850004 60851908 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697916 S 2026 0 1 "" esv23323 13 60856422 60857183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20994 S 451 0 8 "" NA11894,NA11931,NA12749,NA12828,NA15510,NA18508,NA18523,NA19147 esv1010475 13 60856691 60857020 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585221 S 3 0 1 "" HuRef nsv510587 13 60877754 60892054 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620061 S 4 0 1 PCDH20 NA15510 nsv832628 13 60883541 61051693 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450284 S 95 0 1 PCDH20 esv28803 13 60918088 60918848 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11662 S 451 0 1 "" NA07045 nsv1068 13 60961179 61006405 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9133 S 9 0 1 "" NA12156 dgv1624n71 13 60968820 60999460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900246,nsv900247 M 6533 0 2 "" IS31285,SP57367 nsv900248 13 60968820 61009710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499999 S 6533 0 1 "" SP50073 esv269766 13 60975075 60975871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493319,essv2510919 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA19116 esv273857 13 60989534 60989862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580249,essv2580041 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv900249 13 61031251 61116812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517767 S 6533 0 1 "" SP57367 nsv526801 13 61045475 61045536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703155 S 2026 0 1 "" nsv900250 13 61045536 61219074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541199 S 6533 0 1 "" MS15199 nsv528090 13 61073239 61088999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704626 S 2026 0 1 "" nsv455905 13 61088375 61090632 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533359 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00613 nsv518612 13 61088999 61090632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696058 S 2026 0 1 "" nsv832629 13 61218370 61395239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450285 S 95 1 0 MIR548AN nsv510588 13 61377355 61380717 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622671 S 4 0 1 MIR548AN NA18994 nsv900251 13 61400167 61522459 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587569,nssv1568164 M 6533 0 2 MIR548AN IS31205,IS38065 dgv1625n71 13 61400167 61585844 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900252,nsv900253 M 6533 0 3 MIR548AN IS32615,IS36219,IS41094 nsv510339 13 61434690 61440690 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622229 S 4 0 1 MIR548AN NA10860 dgv1626n71 13 61447704 61578230 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900255,nsv900254 M 6533 0 2 MIR548AN IS33669,IS38254 nsv900256 13 61467635 61558300 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569231,nssv1569477 M 6533 0 2 MIR548AN IS31553,IS31581 esv270504 13 61486942 61487269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565598,essv2571804,essv2546219,essv2521405,essv2526125,essv2542388,essv2543932,essv2556808,essv2568114,essv2545596,essv2554144,essv2544478,essv2552086,essv2520522,essv2547498,essv2564326,essv2553779,essv2559523,essv2565361,essv2564294,essv2561924,essv2537656,essv2547015,essv2557281,essv2552474,essv2532044,essv2550051,essv2563032,essv2552846,essv2541142,essv2540502,essv2565160,essv2566106,essv2567817,essv2541714,essv2535769,essv2572215,essv2539515,essv2534015,essv2555550,essv2573764,essv2527522,essv2522652,essv2573539,essv2577028,essv2560842,essv2574779,essv2568458,essv2545109,essv2571535,essv2536180,essv2537731,essv2549001,essv2525116 M 157 54 0 Samples from several populations that are part of the HapMap project. MIR548AN NA06986,NA07000,NA07037,NA07357,NA11829,NA11840,NA11881,NA11894,NA11918,NA11919,NA11992,NA11994,NA11995,NA12003,NA12287,NA12414,NA12489,NA12716,NA12717,NA12751,NA12763,NA12776,NA12812,NA12828,NA12874,NA12878,NA12892,NA18499,NA18502,NA18505,NA18511,NA18532,NA18542,NA18545,NA18552,NA18558,NA18572,NA18577,NA18592,NA18608,NA18609,NA18912,NA18916,NA18945,NA18951,NA18952,NA18960,NA18964,NA18970,NA19137,NA19138,NA19147,NA19172,NA19238 esv272990 13 61486946 61487271 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581933,essv2583140,essv2584225 M 7 3 0 Samples from several populations that are part of the HapMap project. MIR548AN NA12878,NA12892,NA19238 esv1187711 13 61491810 61491810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181918 S 2 1 0 MIR548AN HuRef esv268299 13 61537628 61538010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511856,essv2494383,essv2498519,essv2507252,essv2495594 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18502,NA18858,NA18870,NA18916 nsv832630 13 61549866 61709429 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450287,nssv1450286 M 95 2 0 "" nsv819338 13 61552399 61555517 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419511 S 2 1 0 "" AK1 nsv820945 13 61552600 61555806 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421048 S 1 0 1 "" NA10851 esv24477 13 61552715 61556529 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18439,esv14290 M 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv331n67 13 61552804 61555605 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826668,nsv826667,nsv826666,nsv826669 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 dgv110n21 13 61569408 61578230 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518640,nsv526572 M 2026 0 2 "" esv269585 13 61619047 61619371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540866,essv2521331,essv2525958,essv2522923,essv2544038,essv2568150,essv2531894,essv2548363,essv2534980,essv2544260,essv2552152,essv2559534,essv2562076,essv2537329,essv2528260,essv2546706,essv2557228,essv2552350,essv2551819,essv2569280,essv2537105,essv2527321,essv2561644,essv2565031,essv2532778,essv2566832,essv2541886,essv2551179,essv2569011,essv2543470,essv2562169,essv2539240,essv2533910,essv2572013,essv2575414,essv2575067,essv2526462,essv2524090,essv2572903,essv2560204,essv2549749,essv2571313,essv2545868,essv2574486,essv2538001,essv2548807,essv2533224,essv2554509,essv2547770 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA11831,NA11894,NA11918,NA11931,NA11992,NA11995,NA12006,NA12045,NA12249,NA12414,NA12489,NA12776,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18508,NA18517,NA18522,NA18523,NA18558,NA18576,NA18853,NA18856,NA18858,NA18861,NA18870,NA18909,NA18912,NA18916,NA18973,NA19099,NA19102,NA19114,NA19129,NA19143,NA19190,NA19225,NA19238,NA19239,NA19240 esv274239 13 61619048 61619370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581947,essv2582334,essv2582780,essv2584082,essv2584683,essv2583646 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv826670 13 61675127 61675830 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425281,nssv1427009 M 31 0 2 "" AK2,AK6 nsv900257 13 61680368 61805091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541796 S 6533 0 1 "" MS15491 esv25572 13 61682923 61685551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16952,esv12975 M 451 0 5 "" NA07045,NA12489,NA12749,NA12776,NA18505 esv275179 13 61707275 61716094 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585628 S 1250 0 1 "" dgv332n67 13 61783490 61785328 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826671,nsv826672 M 31 2 0 "" AK20,NA18526 nsv900258 13 61783878 61856891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505586 S 6533 0 1 "" SP53687 esv274921 13 61857186 61859968 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585570,essv2585670 M 1250 1 1 "" esv275288 13 61859968 61865177 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585290 S 1250 0 1 "" nsv523042 13 61943642 61945020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698725 S 2026 0 1 "" nsv900259 13 62001427 62095838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567789 S 6533 0 1 "" IS31145 nsv818969 13 62008607 62015161 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416968 S 112 0 1 "" NA19138 nsv519895 13 62009279 62015161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697111 S 2026 0 1 "" nsv900260 13 62070811 62175177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583583,nssv1568794 M 6533 0 2 "" IS31338,IS36533 nsv900261 13 62077286 62451877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541200 S 6533 0 1 "" MS15199 dgv1627n71 13 62095838 62157034 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900265,nsv900262 M 6533 0 2 "" IS41909,MS10802 dgv1628n71 13 62095838 62194882 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900263,nsv900266,nsv900264 M 6533 0 6 "" IS31094,IS31123,IS31373,IS31553,MS12827,MS25617 dgv563e1 13 62097238 62619249 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv780,essv763,essv3433 M 271 0 0 "" NA18956 dgv1629n71 13 62118887 62178875 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900269,nsv900268,nsv900267 M 6533 0 4 "" IS30589,IS31904,IS33580,MS10699 nsv516866 13 62127880 62131897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677846,nssv693256,nssv681019,nssv654538,nssv678665 M 2026 0 5 "" nsv455907 13 62127880 62157034 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533360 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00007 dgv1630n71 13 62127880 62245523 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900271,nsv900270,nsv900272 M 6533 0 3 "" IS41964,MS18978,MS21252 nsv513387 13 62160098 62161327 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625782 S 1 1 0 "" 1 esv1533788 13 62160581 62160581 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683323 S 2 1 0 "" HuRef dgv564e1 13 62179940 62527158 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv829,essv1322 M 271 0 0 "" NA18973 dgv76e55 13 62179940 62535278 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34296,esv34669 M 771 0 2 "" NA18956,NA18973 nsv1069 13 62203908 62542060 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9995,nssv9135 M 9 0 2 "" NA12156,NA18956 nsv498816 13 62213758 62530893 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585677 S 9 0 1 "" nsv514706 13 62214144 62494172 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627124 S 1414 0 0 "" nsv442312 13 62216545 62527158 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv471139 13 62219873 62503437 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545410 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01305 nsv433269 13 62226404 62408732 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463150 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv900273 13 62250572 62472197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592944 S 6533 0 1 "" IS39322 nsv832631 13 62260735 62430051 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450296,nssv1450293,nssv1450292,nssv1450299,nssv1450298,nssv1450297,nssv1450290,nssv1450291,nssv1450289,nssv1450288 M 95 10 0 "" nsv519723 13 62291269 62305059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674119,nssv681763,nssv657933 M 2026 0 3 "" esv2113377 13 62331594 62332010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682428 S 1 0 1 "" NA18507 dgv1631n71 13 62409842 62763670 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900275,nsv900274 M 6533 0 3 "" MS17624,SP52077,SP57856 esv2516575 13 62420845 62422441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250942 S 1 0 1 "" NA18507 esv2104271 13 62421627 62422333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957875 S 1 0 1 "" NA18507 esv3241 13 62421747 62422197 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25682 S 1 0 1 Single Asian sample YH "" YH esv8048 13 62421818 62422120 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30489 S 1 0 1 "" SJK nsv832632 13 62427545 62590439 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450300 S 95 1 0 "" nsv433270 13 62437681 62527158 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463151 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv455909 13 62457476 62555192 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533362 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00872 nsv510591 13 62496574 62506413 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620062 S 4 0 1 "" NA15510 esv24905 13 62497579 62550861 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14667 S 451 5 0 "" NA12004,NA15510,NA18861,NA19147,NA19190 nsv821322 13 62497579 62550861 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421049 S 1 1 0 "" NA10851 dgv333n67 13 62500126 62547208 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826677,nsv826676,nsv826674,nsv826679,nsv826678,nsv826673 M 31 8 0 "" AK10,AK18,AK2,AK20,AK4,NA18582,NA18972,NA18999 esv5888 13 62503637 62503772 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28329 S 1 0 0 "" SJK esv5030 13 62504442 62505702 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27471 S 1 0 0 Single Asian sample YH "" YH esv8512 13 62504740 62505664 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30953 S 1 0 0 "" SJK esv2459127 13 62504989 62531186 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282730 S 1 1 0 "" NA18507 esv270566 13 62505624 62505709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517158 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv272920 13 62505625 62505710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581040 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv64505 13 62505673 62505673 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83083 M 24 "" nsv820172 13 62507519 62547100 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418730 S 2 1 0 "" AK1 esv2176349 13 62510212 62510657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538704 S 1 0 1 "" NA18507 esv2314958 13 62513571 62513955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892493 S 1 0 1 "" NA18507 nsv512322 13 62515447 62519979 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624903 S 1 0 1 "" 1 nsv64867 13 62522553 62522686 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83445 M 24 "" esv2386977 13 62529625 62530032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788168 S 1 0 1 "" NA18507 nsv900276 13 62536330 62682287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541201 S 6533 0 1 "" MS15199 esv2577501 13 62553981 62555773 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170790 S 1 0 1 "" NA18507 esv2088409 13 62553988 62554715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784988 S 1 0 1 "" NA18507 esv4363 13 62554126 62554648 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26804 S 1 0 1 Single Asian sample YH "" YH esv1723487 13 62554194 62554521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351827 S 2 0 1 "" HuRef nsv900277 13 62564150 62790906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565820 S 6533 0 1 "" IS30522 esv269764 13 62587153 62589300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510100,essv2496666,essv2499351,essv2500460,essv2495133,essv2495015 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11829,NA11894,NA11994,NA18537,NA18964 nsv469654 13 62681763 62844117 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649582 M 265 0 2 Samples from several populations that are part of the HapMap project. "" dgv1632n71 13 62722232 62948361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900278,nsv900284,nsv900286,nsv900287 M 6533 0 5 "" IS34962,IS39011,IS39119,MS11467,MS18978 dgv1633n71 13 62729008 63020620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900285,nsv900279 M 6533 0 2 "" IS35083,MS22104 dgv1634n71 13 62739149 62801083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900281,nsv900280 M 6533 0 6 "" IS31373,IS31728,IS35100,IS35145,IS38239,IS39944 dgv1635n71 13 62739149 62833270 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900283,nsv900282 M 6533 0 3 "" IS31179,IS31904,IS38993 esv1006219 13 62764861 62769972 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564659 S 3 0 1 "" HuRef nsv9076 13 62769207 62771351 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24528 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 dgv1636n71 13 62840221 62948361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900288,nsv900289 M 6533 0 3 "" IS33763,IS41113,MS17697 nsv900290 13 62840221 63082454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567693 S 6533 0 1 "" IS31137 esv1563024 13 62847900 62847900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952433 S 2 1 0 "" HuRef dgv1637n71 13 62852762 62918811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900291,nsv900300 M 6533 0 2 "" IS38846,SP57368 nsv900292 13 62860845 62890470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517886 S 6533 0 1 "" SP57401 dgv1638n71 13 62860845 62918811 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv900293,nsv900294 M 6533 2 17 "" IS30330,IS30616,IS30742,IS30976,IS33786,IS35717,IS36656,IS37194,IS38065,IS39745,MS10228,MS11306,MS16493,MS18205,MS18267,SP50073,SP50128,SP55660,SP56223 dgv1639n71 13 62860845 62948361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900296,nsv900295,nsv900302 M 6533 0 8 "" IS31563,IS31581,IS31617,IS33605,IS35498,IS35771,IS39784,SP52093 dgv1640n71 13 62860845 62986821 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900303,nsv900297 M 6533 0 3 "" IS31041,IS31587,IS36244 dgv1641n71 13 62860845 63082454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900308,nsv900298,nsv900307,nsv900306,nsv900304,nsv900305 M 6533 0 7 "" IS30532,IS30539,IS30597,IS31067,IS35100,IS35229,IS41924 nsv455910 13 62867263 62903084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533363 S 1557 0 1 "" 1780854536_A nsv900299 13 62867263 62903084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518795 S 6533 0 1 "" SP58155 nsv900301 13 62874724 62918811 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589259,nssv1582998,nssv1589941,nssv1566532,nssv1570052,nssv1532158,nssv1529933,nssv1591932,nssv1545819,nssv1568580 M 6533 2 8 "" IS30771,IS31306,IS31768,IS36219,IS38330,IS38431,IS39100,MS10126,MS10727,MS16959 esv1990103 13 62879008 62879440 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901324 S 1 0 1 "" NA18507 nsv521298 13 62884900 62890470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697905 S 2026 0 1 "" nsv455911 13 62884900 62906925 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533364 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00567 dgv1642n71 13 62892087 62948361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900310,nsv900309 M 6533 0 2 "" IS38235,IS38263 nsv900311 13 62935198 63031016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561823,nssv1549229 M 6533 0 2 "" MS18143,MS25244 dgv1643n71 13 62948361 63177867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900312,nsv900313 M 6533 0 7 "" MS10778,MS12609,MS16944,MS18003,MS20872,MS23295,MS24719 nsv900314 13 63031016 63255839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591759 S 6533 0 1 OR7E156P IS39011 esv1968516 13 63039413 63039848 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572452 S 1 0 1 "" NA18507 nsv900315 13 63062087 63139240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538095 S 6533 0 1 "" MS13480 nsv510340 13 63077829 63083829 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624141 S 4 0 1 "" NA18994 nsv524746 13 63082454 63241820 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700737 S 2026 1 0 OR7E156P nsv521156 13 63091225 63092661 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697818 S 2026 0 1 "" nsv455912 13 63091225 63139240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533365 S 1557 0 1 "" 1780854495_A nsv455913 13 63100643 63108399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533366 S 1557 0 1 "" 1780862394_A esv270125 13 63101476 63101574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504231,essv2493703 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18517 esv24737 13 63122657 63135608 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10925 S 451 0 3 "" NA07037,NA11931,NA12239 nsv442673 13 63122789 63134693 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422004 13 63122793 63134693 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066629,essv5070408,essv5035415,essv5046662,essv5158125,essv5031566,essv5075544,essv5144344,essv5139141,essv5155244,essv5075562,essv5004658,essv5010924,essv5074822,essv5153357,essv5096800,essv5081426,essv5125297,essv5061103,essv5039016,essv5129586,essv5031800,essv5067904,essv5012398,essv5131791,essv5035505,essv5006063,essv5100803,essv5080626,essv5065989,essv5074908,essv5100781,essv5061959,essv5097445,essv5068125,essv5109826,essv5125477,essv5046837,essv5049325 M 1184 0 39 "" NA06995,NA07000,NA07037,NA07435,NA10838,NA10856,NA11829,NA11830,NA11893,NA11931,NA12003,NA12239,NA12248,NA12273,NA12348,NA12707,NA12716,NA12740,NA12751,NA12763,NA12775,NA12815,NA12827,NA12875,NA19783,NA19784,NA20524,NA20588,NA20753,NA20765,NA20783,NA20796,NA20805,NA20819,NA20849,NA20873,NA21099,NA21111,NA21117 nsv514707 13 63122960 63132608 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628186 S 1414 0 1 "" nsv516838 13 63158774 63241820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654354,nssv682839,nssv663299,nssv687102,nssv686805,nssv677651,nssv681354,nssv675405,nssv678631,nssv671668,nssv684397,nssv660328 M 2026 0 12 OR7E156P nsv7244 13 63161559 63260366 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9495,nssv9954,nssv9292,nssv2041 M 9 0 0 OR7E156P NA18507,NA18517,NA18555 nsv900316 13 63185384 63271229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559518 S 6533 1 0 OR7E156P MS24010 dgv1644n71 13 63185384 63309617 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900317,nsv900318,nsv900324,nsv900322,nsv900319,nsv900325 M 6533 6 0 OR7E156P MS11663,MS15826,MS17371,MS18255,MS22268,SP50904 dgv1645n71 13 63188981 63302331 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv900320,nsv900321 M 6533 6 4 OR7E156P IS39322,IS39394,MS12615,MS12688,MS17306,MS18248,MS23077,MS24798,MS25308,SP54367 nsv900323 13 63188981 63411204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552696 S 6533 1 0 OR7E156P MS19584 nsv499501 13 63188984 63237340 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585505 S 9 0 0 OR7E156P nsv9077 13 63189262 63192710 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20960 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 dgv565e1 13 63201508 63285508 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9284,esv934 M 271 0 0 OR7E156P NA19137 nsv900326 13 63208758 63309617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551603 S 6533 0 1 OR7E156P MS18947 esv1941701 13 63213059 63213502 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733456 S 1 0 1 OR7E156P NA18507 esv2255781 13 63213371 63213808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645099 S 1 0 1 OR7E156P NA18507 nsv442313 13 63227094 63303323 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1646n71 13 63231043 63302331 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900328,nsv900330,nsv900329,nsv900327 M 6533 5 0 "" SP50017,SP50528,SP51115,SP52101,SP52432 nsv9078 13 63237863 63241311 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20990 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv900331 13 63244537 63348376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590160 S 6533 0 1 "" IS38464 nsv832633 13 63283306 63419488 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450301 S 95 0 1 "" nsv9079 13 63290403 63299597 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24268 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv900332 13 63309617 63754867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531217 S 6533 0 1 "" MS10378 dgv1647n71 13 63330923 63456879 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900333,nsv900335 M 6533 0 2 "" IS30311,SP50834 nsv900334 13 63330923 63489710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597909 S 6533 0 1 "" IS41068 nsv516171 13 63330923 63834244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658837,nssv658764,nssv675829,nssv677959,nssv699212,nssv666612,nssv658043 M 2026 0 7 "" nsv455914 13 63330923 64266491 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533367 S 1557 1 0 "" 1780862585_A esv2532876 13 63345633 63347173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238150 S 1 0 1 "" NA18507 esv2213973 13 63346432 63347108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628688 S 1 0 1 "" NA18507 nsv900336 13 63463006 64644183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534355 S 6533 0 1 "" MS11552 esv269247 13 63467807 63468884 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510320,essv2510615,essv2504083,essv2509864,essv2493672,essv2494948,essv2512984,essv2508261,essv2504590,essv2498418,essv2495651,essv2504906,essv2502479,essv2502689,essv2501534,essv2499632,essv2501849,essv2498143 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA12414,NA18501,NA18505,NA18508,NA18517,NA18520,NA18547,NA18561,NA18563,NA18858,NA18916,NA18942,NA18948,NA18965,NA19093,NA19225,NA19239,NA19240 esv272757 13 63467813 63468892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580206,essv2579842,essv2580924,essv2579654 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 nsv832634 13 63481793 63635417 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450302 S 95 1 0 "" nsv826680 13 63513729 63514407 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427801 S 31 1 0 "" AK8 dgv1648n71 13 63541486 63754867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900337,nsv900338 M 6533 0 6 "" IS31228,IS33763,IS38352,MS12947,MS15672,MS22858 nsv1070 13 63570657 63616366 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6563 S 9 0 1 "" NA12156 nsv900339 13 63612832 63693588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518645 S 6533 0 1 "" SP57873 esv1153331 13 63699982 63699982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167467 S 2 1 0 "" HuRef nsv900340 13 63715520 63788977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592881 S 6533 0 1 "" IS39272 esv2431325 13 63723449 63724378 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253932 S 1 1 0 "" NA18507 esv1234810 13 63723867 63723867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639948 S 2 1 0 "" HuRef nsv900341 13 63726110 63824209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567329 S 6533 0 1 "" IS31067 dgv1649n71 13 63726110 63893182 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900343,nsv900342 M 6533 0 2 "" IS31166,MS17114 nsv1071 13 63753435 63787537 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2903 S 9 1 0 "" NA18555 nsv900344 13 63766769 64091125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556648 S 6533 0 1 "" MS22104 esv29232 13 63833359 63841379 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18316 S 451 1 0 "" NA12878 nsv900345 13 63834244 65035343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556809 S 6533 1 0 "" MS22179 esv1005051 13 63851337 63851337 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574210 S 3 1 0 "" HuRef esv1212156 13 63851493 63851493 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259858 S 2 1 0 "" HuRef esv1104573 13 63851540 63851540 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896993 S 2 1 0 "" HuRef esv2460468 13 63862029 63862940 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302258 S 1 1 0 "" NA18507 esv270757 13 63862491 63862855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495428,essv2507978,essv2499491,essv2501684,essv2512225,essv2513219,essv2502592,essv2493333,essv2510790,essv2494275,essv2509692,essv2493622,essv2506241,essv2498307,essv2500457,essv2512969,essv2497139,essv2499959,essv2499857,essv2506392,essv2511355,essv2500637,essv2494446,essv2507633,essv2508465,essv2508613,essv2510052,essv2496109,essv2512893,essv2507558,essv2498644,essv2505813,essv2507150,essv2509302,essv2511666,essv2504926,essv2511140,essv2497915,essv2502393,essv2512398,essv2493035,essv2509393,essv2495977,essv2495098,essv2502655,essv2500773,essv2505645,essv2501278,essv2506829,essv2510818,essv2498894,essv2497461,essv2510499,essv2497101,essv2511987,essv2501797,essv2498075,essv2502175 M 157 58 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA12003,NA12044,NA12144,NA12155,NA12249,NA12750,NA12776,NA18501,NA18502,NA18508,NA18517,NA18523,NA18526,NA18537,NA18547,NA18552,NA18558,NA18562,NA18566,NA18570,NA18571,NA18572,NA18576,NA18582,NA18592,NA18593,NA18603,NA18609,NA18638,NA18858,NA18861,NA18870,NA18909,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18951,NA18953,NA18961,NA18964,NA18965,NA18973,NA19005,NA19093,NA19102,NA19116,NA19138,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv273107 13 63862492 63862767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579289,essv2579785 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2609222 13 63865850 63867206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354281 S 1 0 1 "" NA18507 nsv900346 13 63897867 64096146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534161 S 6533 0 1 "" MS11467 nsv900347 13 63916194 64001191 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532978,nssv1556754 M 6533 1 1 "" MS10957,MS22146 nsv900348 13 63972138 64091125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581422,nssv1575628 M 6533 0 2 "" IS33786,IS35572 nsv900349 13 64015967 64091125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568165 S 6533 0 1 "" IS31205 dgv1650n71 13 64015967 64127480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900350,nsv900351 M 6533 0 2 "" IS30667,IS35181 nsv900352 13 64015967 66385414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570250 S 6533 0 1 MIR4704,MIR548X2,PCDH9 IS31837 nsv900353 13 64041939 64076319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594214 S 6533 0 1 "" IS39718 dgv1651n71 13 64041939 64100098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900355,nsv900354,nsv900356 M 6533 0 6 "" IS30593,IS31373,IS31768,IS37999,IS40067,MS23670 nsv900357 13 64054749 64113263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574076 S 6533 0 1 "" IS33507 nsv821672 13 64056794 65087468 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421247 S 31 0 1 "" nsv900358 13 64067284 64100098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583907 S 6533 0 1 "" IS36722 nsv826681 13 64071958 64072608 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427802 S 31 1 0 "" AK8 nsv900359 13 64080366 64219034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567330 S 6533 0 1 "" IS31067 esv2496869 13 64087738 64089541 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183339 S 1 0 0 "" NA18507 nsv818970 13 64091125 64094066 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417371 S 112 0 1 "" NA18944 nsv507706 13 64094991 64100991 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617864 S 4 1 0 "" CHM dgv1652n71 13 64096495 64143901 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900361,nsv900360 M 6533 0 2 "" IS35229,MS18620 nsv528825 13 64125776 64127480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705499 S 2026 0 1 "" nsv510341 13 64134389 64140389 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622230 S 4 0 1 "" NA10860 dgv1653n71 13 64169534 64224035 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900363,nsv900362 M 6533 0 2 "" IS34395,MS15199 esv259794 13 64188539 64214208 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399879,essv2398995,essv2395812 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18561,NA18605,NA18961 nsv442314 13 64198454 64209619 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv510342 13 64199248 64205248 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622231 S 4 0 1 "" NA10860 nsv9081 13 64214146 64220063 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24793 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv511524 13 64237576 64248466 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626146 S 1 0 1 "" 1 nsv512323 13 64239496 64242617 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624904 S 1 0 1 "" 1 esv994619 13 64240062 64245088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563816 S 3 0 1 "" HuRef esv989362 13 64240335 64242391 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587166 S 3 0 1 "" HuRef esv23505 13 64240513 64242496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11248 S 451 0 11 "" NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12287,NA18523,NA18907,NA19129 esv21584 13 64250105 64251483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10864 S 451 0 4 "" NA11894,NA11993,NA11995,NA12044 dgv1654n71 13 64279617 64475033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900368,nsv900364,nsv900367 M 6533 0 3 "" IS31205,MS15312,MS17114 nsv900365 13 64283601 64390717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564880 S 6533 0 1 "" IS30311 nsv900366 13 64283601 64410990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535078 S 6533 1 0 "" MS12003 nsv832635 13 64317369 64472768 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450303 S 95 0 1 "" dgv1655n71 13 64321069 64475033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900369,nsv900371,nsv900372 M 6533 0 3 "" IS31602,IS33864,MS18847 nsv900370 13 64332927 64440386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567984 S 6533 0 1 "" IS31179 nsv507707 13 64374702 64380702 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620541,nssv623140 M 4 2 0 "" NA15510,NA18994 nsv900373 13 64393898 64673295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522129 S 6533 0 1 "" SP52734 esv267461 13 64394801 64395167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510145,essv2506803,essv2499347,essv2507966,essv2505550,essv2505035,essv2511841,essv2493275,essv2493578,essv2499993,essv2498455,essv2507155,essv2504939,essv2495215,essv2502638,essv2505592,essv2497734,essv2510416,essv2511970,essv2498067,essv2502169 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11918,NA11994,NA12003,NA12154,NA12828,NA18499,NA18504,NA18517,NA18558,NA18858,NA18870,NA18942,NA18964,NA18965,NA19005,NA19147,NA19172,NA19238,NA19240,NA19257 esv272860 13 64394815 64395157 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584279,essv2583819 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv1656n71 13 64399588 64462601 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900374,nsv900376 M 6533 2 0 "" IS30384,IS38575 nsv900375 13 64399588 64475033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567884 S 6533 0 1 "" IS31169 nsv9082 13 64419177 64429388 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21154 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv24073 13 64423724 64427947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21275 S 451 0 1 "" NA12828 nsv524318 13 64426336 64432998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700221 S 2026 0 1 "" nsv826682 13 64428476 64449424 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438411,nssv1439237 M 31 2 0 "" NA18951,NA18973 nsv900377 13 64518890 64644183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524310 S 6533 0 1 "" SP54966 nsv512324 13 64533966 64537116 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624905 S 1 0 1 "" 1 esv995936 13 64535420 64536231 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565581 S 3 0 1 "" HuRef esv4726 13 64535763 64536275 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27167 S 1 0 1 Single Asian sample YH "" YH esv7260 13 64535806 64536218 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29701 S 1 0 1 "" SJK nsv826683 13 64618524 64652133 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425283 S 31 1 0 "" AK2 nsv519044 13 64644183 64696304 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696514 S 2026 1 0 "" nsv900378 13 64690278 64774632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567863 S 6533 0 1 "" IS31166 nsv1072 13 64699555 64700706 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9996 S 9 1 0 "" NA18956 nsv832637 13 64741928 64903073 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450319,nssv1450311,nssv1450324,nssv1450322,nssv1450321,nssv1450310,nssv1450316,nssv1450326,nssv1450325,nssv1450323,nssv1450318,nssv1450312,nssv1450320,nssv1450315,nssv1450309,nssv1450305,nssv1450304,nssv1450314,nssv1450308,nssv1450313,nssv1450307 M 95 21 0 "" esv1222385 13 64760106 64760165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039181 S 2 0 1 "" HuRef esv2751147 13 64770832 64941203 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983980,essv6983981,essv6989403 M 771 0 1 "" BEC_74 esv274067 13 64790931 64791266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578905,essv2579670 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 dgv227n27 13 64808793 65406345 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455917,nsv455916 M 1557 2 0 "" 1780862162_A,HGDP00224 esv7546 13 64845441 64845530 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29987 S 1 1 0 "" SJK dgv1657n71 13 64885044 65065357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900380,nsv900379 M 6533 0 2 "" SP56658,SP56832 nsv455918 13 64889907 65047009 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533370 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01184 nsv471140 13 64890985 65047009 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545411 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01184 esv270424 13 64912485 64912570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516450,essv2515770,essv2515922,essv2517577 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12815,NA12873,NA12878 esv273519 13 64912485 64912570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581326 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv900381 13 64914605 64989389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601059 S 6533 0 1 "" IS41964 esv271986 13 64923559 64923644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515030 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv900382 13 64966931 65012005 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556271 S 6533 0 1 "" MS21868 essv17755 13 65062295 65222213 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10831 dgv566e1 13 65062295 65292451 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7356,esv619 M 271 0 0 "" NA18570 nsv442315 13 65094528 65103708 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv525504 13 65099818 65103110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701636 S 2026 0 1 "" nsv900383 13 65112303 65187611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546213 S 6533 0 1 "" MS17114 esv2449958 13 65115794 65116690 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345119 S 1 1 0 "" NA18507 esv268734 13 65116150 65116479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511723,essv2503011,essv2493803,essv2501003,essv2498450,essv2507129,essv2502253 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18507,NA18517,NA18856,NA18858,NA18870,NA19257 essv5073 13 65128608 65255649 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18570 nsv826684 13 65132680 65254240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434673 S 31 1 0 "" NA18570 esv259816 13 65132858 65254396 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399551 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18570 esv34387 13 65133107 65253636 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979545,essv6979546,essv6979547 M 771 1 0 "" NA18570 nsv900384 13 65187611 65287937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598255 S 6533 0 1 "" IS41224 nsv832638 13 65240398 65396164 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450327 S 95 1 0 "" nsv521036 13 65252630 65254943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680341,nssv683585 M 2026 0 2 "" nsv9083 13 65253468 65261274 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26502 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv455920 13 65265526 65383952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533371 S 1557 0 1 "" NINDS_66 nsv826685 13 65266736 65267553 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427803 S 31 1 0 "" AK8 esv267995 13 65373579 65373919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2569405,essv2527314,essv2566763,essv2543788,essv2527754,essv2533925,essv2529671,essv2575549,essv2538542,essv2526338,essv2572763,essv2545054,essv2571099,essv2545801,essv2574176 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18522,NA18853,NA18870,NA18907,NA18916,NA19093,NA19099,NA19108,NA19114,NA19143,NA19172,NA19238,NA19239,NA19240 esv273839 13 65373585 65373907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584052,essv2584548,essv2583291 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv455921 13 65376226 65398874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533372 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00039 nsv900385 13 65390873 65509147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571185 S 6533 0 1 MIR548X2 IS32615 esv1002848 13 65518356 65518356 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577738 S 3 1 0 "" HuRef esv1533374 13 65518357 65518410 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673504 S 2 0 1 "" HuRef esv1513253 13 65518412 65518412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048531 S 2 1 0 "" HuRef esv269042 13 65526717 65526841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499380,essv2512564,essv2496178,essv2493768,essv2506273,essv2503335,essv2497350,essv2507695,essv2508488,essv2501585,essv2507246,essv2504909,essv2502353,essv2512821,essv2506687,essv2502078 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA18489,NA18511,NA18517,NA18523,NA18542,NA18545,NA18576,NA18582,NA18608,NA18870,NA18942,NA18948,NA18980,NA19108,NA19257 nsv900386 13 65534158 65570977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515186 S 6533 0 1 "" SP56132 esv267824 13 65544792 65544877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513839 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv471141 13 65562091 65681413 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545412 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv521792 13 65589811 65611679 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694562 S 2026 1 0 "" esv1091274 13 65618896 65618896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118447 S 2 1 0 "" HuRef nsv513388 13 65618919 65619151 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625783 S 1 1 0 "" 1 nsv900387 13 65623709 65761185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554930 S 6533 0 1 MIR4704 MS21100 esv22601 13 65644812 65657445 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13309 S 451 1 0 "" NA12878 nsv1073 13 65681290 65716219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1150 S 9 1 0 MIR4704 NA19240 nsv900388 13 65696924 65817701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557654 S 6533 0 1 PCDH9 MS22797 nsv510343 13 65765133 65771133 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624142 S 4 0 1 "" NA18994 nsv900389 13 65765795 65859007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557768 S 6533 0 1 PCDH9 MS22858 nsv900390 13 65888737 65992635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564149 S 6533 0 1 PCDH9 IS30171 dgv567e1 13 65903813 66017201 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3495,esv1431,essv1543 M 271 0 0 PCDH9 NA18999,NA19012 nsv9084 13 65909211 65912948 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24310 S 31 1 0 Samples from several populations that are part of the HapMap project. PCDH9 NA18502 essv4340 13 65912427 65932491 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PCDH9 NA18622 nsv1074 13 65920231 65938773 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9496 S 9 1 0 PCDH9 NA18507 esv2422196 13 65939891 66193481 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161239 S 181 0 1 PCDH9 ND01690 nsv832639 13 65947801 66121702 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450329 S 95 1 0 PCDH9 nsv900391 13 65978275 66031204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552422,nssv1601060,nssv1552137,nssv1555936,nssv1558763,nssv1601126,nssv1600752 M 6533 0 7 PCDH9 IS41922,IS41964,IS41971,MS19226,MS19414,MS21717,MS23531 dgv1658n71 13 65978275 66078046 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900396,nsv900394,nsv900392,nsv900397,nsv900395,nsv900393 M 6533 0 73 PCDH9 IS30041,IS30129,IS30211,IS30224,IS30295,IS30352,IS30398,IS30669,IS31133,IS31194,IS31233,IS31693,IS32259,IS32817,IS32841,IS33044,IS33076,IS33143,IS33439,IS33529,IS33600,IS33788,IS33857,IS33878,IS34360,IS34440,IS34443,IS34775,IS35240,IS35461,IS35788,IS36196,IS36423,IS36527,IS36722,IS36825,IS37149,IS37156,IS37393,IS37450,IS37702,IS37775,IS38009,IS38430,IS38441,IS38461,IS38598,IS38645,IS38658,IS38972,IS39250,IS39860,IS40031,IS40197,IS40299,IS40349,IS40801,IS40802,IS41094,IS41308,IS41889,IS41901,IS41913,IS41949,MS10728,MS12812,MS16286,MS16419,MS17085,MS19808,MS20334,MS20813,MS25831 nsv471142 13 65996375 66067479 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545413,nssv545414 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH9 HGDP00064,HGDP00070 dgv228n27 13 65996376 66067479 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455927,nsv455923,nsv455924,nsv455925 M 1557 0 4 PCDH9 HGDP00037,HGDP00070,HGDP00080,HGDP00736 nsv455926 13 65996376 66098655 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533376 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH9 HGDP00175 nsv511510 13 66068781 66078046 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626129 S 1 0 1 PCDH9 1 nsv512325 13 66072452 66075569 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624906 S 1 0 1 PCDH9 1 esv28367 13 66072818 66075511 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12213,esv9980 M 451 0 4 PCDH9 NA11894,NA12006,NA12044,NA18502 nsv900398 13 66110423 66241267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585034 S 6533 0 1 PCDH9 IS37226 nsv455928 13 66110423 66290299 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533378 S 1557 0 1 PCDH9 NINDS_69 nsv826687 13 66117613 66118894 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425284 S 31 0 1 PCDH9 AK2 nsv455929 13 66118804 66154280 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533379 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH9 HGDP00029 nsv826688 13 66127016 66216801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435641 S 31 0 1 PCDH9 NA18592 esv34348 13 66129500 66223787 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979634,essv6979635,essv6988212,essv6989107 M 771 0 1 PCDH9 NA18592 dgv568e1 13 66129506 66217983 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6428,esv1074 M 271 0 0 PCDH9 NA18592 nsv455931 13 66133612 66195899 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533380 S 1557 0 1 PCDH9 1780854261_A dgv1659n71 13 66147850 66277710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900399,nsv900401,nsv900402 M 6533 0 3 PCDH9 IS30531,IS40954,SP53508 nsv900400 13 66154280 66241267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554641 S 6533 0 1 PCDH9 MS20872 nsv455932 13 66195899 66241267 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533381 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH9 HGDP00710 nsv471143 13 66195899 66242914 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545415 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH9 HGDP00710 nsv523360 13 66220715 66418345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699109 S 2026 0 1 PCDH9 nsv900403 13 66223787 66260139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517768 S 6533 0 1 PCDH9 SP57367 nsv900404 13 66223787 66290299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556689 S 6533 0 1 PCDH9 MS22112 nsv900405 13 66245246 66344836 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564960,nssv1578595 M 6533 0 2 PCDH9 IS30325,IS34809 nsv528416 13 66280799 66290299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705008 S 2026 0 1 PCDH9 nsv455933 13 66290299 66335317 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533382 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH9 HGDP00846 nsv64575 13 66299508 66301850 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83153 M 24 PCDH9 nsv900406 13 66332162 66430206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566176 S 6533 0 1 PCDH9 IS30597 nsv900407 13 66332162 66501746 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519714,nssv1559209 M 6533 0 2 PCDH9 MS23780,SP50177 nsv832640 13 66358305 66533967 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450330 S 95 1 0 PCDH9 nsv437166 13 66397280 66426574 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467047 S 60 0 1 Samples from several populations that are part of the HapMap project. PCDH9 NA10857 nsv507708 13 66402184 66408184 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623141,nssv620542,nssv619109 M 4 3 0 PCDH9 NA10860,NA15510,NA18994 dgv1660n71 13 66402949 66434417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900409,nsv900408,nsv900410 M 6533 0 3 PCDH9 IS30490,IS40067,SP55747 nsv818971 13 66409431 66425245 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416983,nssv1416972 M 112 0 2 PCDH9 NA10857,NA12043 dgv1661n71 13 66409431 66448302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900413,nsv900411 M 6533 0 2 PCDH9 IS32858,MS21868 nsv900412 13 66410878 66470222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601061 S 6533 0 1 PCDH9 IS41964 nsv438254 13 66410969 66418345 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470609,nssv470608 M 269 0 2 Samples from several populations that are part of the HapMap project. PCDH9 NA10857,NA12043 nsv900414 13 66413591 66599342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552264 S 6533 0 1 PCDH9 MS19303 nsv900415 13 66419015 66440555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513965 S 6533 0 1 PCDH9 SP55878 nsv518201 13 66547600 66549062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695624 S 2026 0 1 PCDH9 nsv832641 13 66569692 66606714 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450334,nssv1450337,nssv1450333,nssv1450335,nssv1450336,nssv1450332,nssv1450331 M 95 0 7 PCDH9 esv267821 13 66593232 66593551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512656 S 157 1 0 Samples from several populations that are part of the HapMap project. PCDH9 NA18577 esv269191 13 66623822 66624159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510196,essv2495298,essv2508579,essv2503975 M 157 4 0 Samples from several populations that are part of the HapMap project. PCDH9 NA07037,NA10851,NA11992,NA12717 nsv522396 13 66636743 66638759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695176 S 2026 0 1 PCDH9 nsv527729 13 66752437 66945718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704211 S 2026 0 1 "" nsv64280 13 66795336 66795401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82858 M 24 "" esv2540397 13 66801242 66802142 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218866 S 1 1 0 "" NA18507 esv271285 13 66801423 66801666 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510212,essv2510110,essv2500834,essv2510971,essv2503208,essv2496669,essv2506773,essv2495403,essv2495269,essv2504415,essv2499384,essv2505076,essv2507957,essv2502324,essv2500185,essv2512452,essv2499412,essv2508085,essv2501696,essv2505542,essv2512254,essv2502891,essv2513162,essv2495342,essv2510374,essv2508587,essv2508385,essv2502528,essv2507741,essv2493439,essv2508854,essv2500315,essv2502766,essv2512506,essv2496771,essv2510752,essv2494352,essv2504113,essv2502975,essv2509910,essv2496473,essv2496295,essv2501076,essv2493805,essv2494648,essv2494864,essv2508921,essv2506148,essv2498335,essv2508749,essv2500420,essv2503362,essv2497309,essv2513006,essv2494558,essv2497175,essv2497820,essv2499991,essv2508280,essv2499897,essv2504587,essv2507879,essv2506352,essv2511270,essv2500690,essv2494421,essv2500144,essv2507647,essv2512709,essv2508100,essv2508420,essv2508689,essv2509967,essv2496140,essv2499230,essv2501599,essv2512937,essv2507473,essv2505375,essv2498601,essv2505802,essv2507070,essv2494078,essv2513270,essv2509172,essv2507366,essv2495629,essv2511605,essv2504943,essv2503097,essv2511096,essv2497918,essv2503566,essv2502434,essv2493085,essv2505389,essv2500566,essv2503679,essv2496004,essv2500790,essv2505626,essv2501248,essv2504649,essv2506951,essv2506643,essv2499104,essv2498652,essv2510474,essv2496967,essv2493908,essv2511998,essv2501790,essv2498104,essv2502118,essv2503592,essv2495811,essv2503896,essv2495056,essv2504344,essv2499533,essv2513077 M 157 121 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12717,NA12749,NA12750,NA12751,NA12763,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18956,NA18960,NA18961,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19138,NA19172,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv272429 13 66801444 66801692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581893,essv2582634,essv2582789,essv2584112,essv2584711,essv2583831 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv988536 13 66801454 66801454 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576632 S 3 1 0 "" HuRef esv1287556 13 66801472 66801472 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059333 S 2 1 0 "" HuRef nsv900416 13 66816493 66902709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600295 S 6533 0 1 "" IS41867 esv2118576 13 66848374 66848823 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823101 S 1 0 1 "" NA18507 esv1002974 13 66848544 66848595 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580606 S 3 0 1 "" HuRef nsv64120 13 66848544 66848595 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82698 M 24 "" esv1787117 13 66848595 66848647 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664685 S 2 0 1 "" HuRef nsv64400 13 66848596 66848647 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82978 M 24 "" esv272723 13 66865129 66865487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580702,essv2578957,essv2579719 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270676 13 66865132 66865486 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536703,essv2556678,essv2531726,essv2548454,essv2558559,essv2553778,essv2576368,essv2532074,essv2562773,essv2542619,essv2563737,essv2543762,essv2556360,essv2528128,essv2562329,essv2539242,essv2571130,essv2547911,essv2524950 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA07357,NA11920,NA11994,NA12006,NA12045,NA12750,NA12763,NA12814,NA18505,NA18507,NA18550,NA18603,NA18870,NA18871,NA18907,NA18909,NA18912,NA19238 esv2421748 13 66945140 66954900 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117810,essv5111301,essv5117357,essv5119121,essv5061881,essv5097996,essv5048055,essv5144753,essv5036293,essv5139023,essv5069997,essv5158283,essv5019762 M 1184 0 13 "" NA18500,NA18501,NA19102,NA19103,NA19179,NA19180,NA19430,NA19651,NA19679,NA20342,NA20343,NA21336,NA21826 nsv442316 13 66945140 66954900 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516031 13 66945718 66993176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684566,nssv676106,nssv665821 M 2026 0 3 "" nsv826689 13 66951623 66954347 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436982 S 31 1 0 "" NA18542 nsv455934 13 66961344 66993176 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533383 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01031 nsv525828 13 66979048 67042169 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702017 S 2026 1 0 "" esv267792 13 66995872 66996208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536407,essv2550512,essv2558628,essv2578046,essv2561448,essv2574971,essv2530421,essv2545964,essv2574315,essv2537997,essv2547822 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA11920,NA12234,NA12750,NA12761,NA18523,NA19138,NA19141,NA19239,NA19240 esv273102 13 66995873 66996224 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580975,essv2579592 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv1662n71 13 67003764 67108093 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900418,nsv900417,nsv900419 M 6533 0 3 "" IS31074,IS39011,MS25617 esv271683 13 67012150 67012235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516568 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 dgv1663n71 13 67023621 67095292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900420,nsv900421 M 6533 0 3 "" IS34489,IS35743,IS41094 nsv900422 13 67045467 67114277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556649 S 6533 0 1 "" MS22104 esv28542 13 67046493 67050392 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11633 S 451 0 1 "" NA12414 nsv510344 13 67063764 67069764 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622232 S 4 0 1 "" NA10860 esv1079114 13 67080635 67080635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203439 S 2 1 0 "" HuRef nsv1075 13 67196875 67241318 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2042 S 9 0 1 "" NA18555 esv24961 13 67219703 67227624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19020 S 451 0 2 "" NA18517,NA18909 nsv510608 13 67221772 67236108 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620063 S 4 0 1 "" NA15510 nsv900423 13 67225767 67314287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560096 S 6533 0 1 "" MS24328 esv275499 13 67249296 67256110 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585179,essv2585550 M 1250 1 1 "" nsv512326 13 67295128 67297414 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624907 S 1 0 1 "" 1 nsv900424 13 67357219 67424994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581092 S 6533 0 1 "" IS35498 esv269404 13 67461912 67461997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516124 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv900425 13 67471812 67798353 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575636 S 6533 1 0 "" IS33786 nsv832642 13 67504872 67681892 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450338 S 95 0 1 "" nsv513389 13 67554211 67554759 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625784 S 1 1 0 "" 1 esv1549627 13 67554629 67554629 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660862 S 2 1 0 "" HuRef nsv510345 13 67700031 67706031 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624143 S 4 0 1 "" NA18994 nsv526751 13 67702749 67731595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703097 S 2026 0 1 "" esv1678496 13 67721793 67721793 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362342 S 2 1 0 "" HuRef nsv900426 13 67768025 67858696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566512,nssv1584047 M 6533 0 2 "" IS30764,IS36787 dgv1664n71 13 67768025 67939516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900430,nsv900429,nsv900428,nsv900427,nsv900431,nsv900432 M 6533 0 11 "" IS30532,IS31837,IS32289,IS33533,IS34896,IS35229,IS36219,IS36533,IS36656,MS22104,MS23670 nsv900433 13 67798353 67879660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575414 S 6533 0 1 "" IS33738 nsv900434 13 67798353 67912813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527677 S 6533 1 0 "" SP80931 nsv510346 13 67810613 67816613 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621400,nssv618388,nssv624144,nssv622233 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv826690 13 67820012 67820459 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427805 S 31 1 0 "" AK8 nsv510609 13 67832604 67872513 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622673 S 4 0 1 "" NA18994 esv991024 13 67834889 67835266 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570336 S 3 0 1 "" HuRef nsv64114 13 67834890 67835265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82692 M 24 "" esv8801 13 67834891 67835268 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31242 S 1 0 1 "" SJK nsv518145 13 67840848 67841498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695566 S 2026 0 1 "" nsv455936 13 67840848 67926482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533384 S 1557 0 1 "" NINDS_158 dgv1665n71 13 67847327 67939516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900435,nsv900438 M 6533 0 2 "" IS40067,SP56172 nsv900436 13 67847327 67939516 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540800,nssv1567368,nssv1569903,nssv1569479,nssv1567038,nssv1535587,nssv1578279,nssv1546214 M 6533 1 7 "" IS31041,IS31070,IS31581,IS31729,IS34748,MS12266,MS15036,MS17114 nsv900437 13 67847327 68027160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551358 S 6533 0 1 "" MS18847 esv2321958 13 67864113 67864517 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712056 S 1 0 1 "" NA18507 nsv528660 13 67879660 68103919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705294 S 2026 0 1 "" nsv900439 13 67890616 67959686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541203 S 6533 0 1 "" MS15199 nsv818972 13 67912813 67926482 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417924 S 112 1 0 "" NA18852 esv274881 13 68001908 68006619 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585270 S 1250 0 1 "" nsv437792 13 68025120 68040299 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467673 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 nsv521148 13 68027160 68030249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690235,nssv683072,nssv687492 M 2026 0 3 "" nsv900440 13 68069581 68180277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578764 S 6533 0 1 "" IS34896 esv22894 13 68097280 68100938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11240 S 451 0 1 "" NA19108 nsv526852 13 68103919 68110347 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703210 S 2026 1 0 "" nsv900441 13 68116291 68170158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568167 S 6533 0 1 "" IS31205 dgv1666n71 13 68121308 68285267 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900444,nsv900442 M 6533 0 2 MIR548H4 MS19634,MS22104 nsv900443 13 68124650 68147928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569103 S 6533 0 1 "" IS31419 nsv471144 13 68128858 68159812 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545416,nssv545417 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876,HGDP01051 nsv9085 13 68131593 68142130 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22498 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv1078 13 68132474 68185003 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10914 S 9 0 1 "" NA15510 nsv455937 13 68134636 68138946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533385 S 1557 0 1 "" 1782681076_A nsv437167 13 68136289 68170158 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467048 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10855 nsv455938 13 68137915 68159813 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533386 S 1557 0 1 "" NINDS_125 dgv1667n71 13 68138181 68180277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900445,nsv900447,nsv900449,nsv900448 M 6533 0 6 "" IS33864,IS36179,IS38736,IS40729,SP50032,SP56136 dgv1668n71 13 68138181 68259506 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900450,nsv900446 M 6533 0 4 MIR548H4 IS39923,SP50843,SP54345,SP81127 esv32770 13 68138941 68163552 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101448,essv98817,essv100738,essv97059,essv99022,essv93744,essv97199,essv99838,essv93252,essv98417 M 51 10 0 "" 21603,21606,21656,21817,21938,21972,22075,22086,22170,22352 nsv516956 13 68138946 68159813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653076,nssv680960,nssv666669,nssv691734,nssv662981,nssv660733,nssv676145,nssv677146,nssv651740,nssv678452,nssv661464,nssv672891,nssv668332,nssv655838,nssv690097,nssv692052,nssv663940,nssv676335,nssv664307,nssv661224,nssv653449,nssv665434,nssv652995,nssv682224,nssv654049,nssv668541,nssv671224,nssv676278,nssv691044,nssv683048,nssv684066,nssv672857,nssv690885,nssv675462,nssv668755,nssv655606,nssv662731,nssv664182,nssv664364,nssv686348,nssv675487,nssv688860,nssv662880,nssv685139,nssv675811,nssv659817,nssv662402,nssv674491,nssv683856,nssv669499,nssv682256,nssv691643,nssv660508,nssv651866,nssv671171,nssv685225,nssv686274,nssv692400,nssv661490,nssv673305,nssv654131,nssv656302,nssv690176,nssv666413,nssv672548,nssv666278,nssv655146,nssv690849,nssv660972,nssv673123,nssv679823,nssv681502,nssv654071,nssv662588,nssv682431,nssv656584,nssv666432,nssv681277,nssv668585,nssv685689,nssv686259,nssv667705,nssv653501,nssv653973,nssv655500,nssv682368,nssv663039,nssv666747,nssv676683,nssv681953,nssv652622,nssv664803,nssv664649,nssv662106,nssv657530,nssv675693,nssv670776,nssv663517,nssv670399,nssv671565,nssv654222,nssv683685,nssv662947,nssv678318,nssv658970,nssv655229,nssv681034,nssv671769,nssv662845,nssv675158,nssv654206,nssv677789,nssv678168,nssv667212,nssv686333,nssv683412,nssv658749,nssv684454,nssv676483,nssv669883,nssv668153,nssv668985,nssv671909,nssv660708,nssv654607,nssv655901,nssv653135,nssv679558,nssv674970,nssv676806,nssv666474,nssv689829,nssv658044,nssv684498,nssv662747,nssv678531,nssv660214,nssv689786,nssv681937,nssv692277,nssv684487,nssv675000,nssv667424,nssv672224,nssv673988,nssv681355,nssv653113,nssv682108,nssv683276,nssv664776,nssv655854,nssv670687,nssv665745,nssv686615,nssv685159,nssv657948,nssv686249,nssv652013,nssv689065,nssv679583,nssv685793,nssv686084,nssv657198,nssv655751,nssv683835,nssv690529,nssv659893,nssv652797,nssv653094,nssv691292 M 2026 0 170 "" nsv9086 13 68142130 68163183 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21848 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 esv23802 13 68142711 68166731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16721 S 451 0 6 "" NA11931,NA12749,NA12828,NA15510,NA19147,NA19225 esv2421678 13 68146300 68166243 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135481,essv5087009,essv5024064,essv5149374,essv5073965,essv5005975,essv5006128,essv5035031,essv5091007,essv5152269,essv5116451,essv5098269,essv5007370,essv5065285,essv5070127,essv5018336,essv5097705,essv5026665,essv5110668,essv5034400,essv5015874,essv5156164,essv5086643,essv5113898,essv5079142,essv5072847,essv5014344,essv5078757,essv5113555,essv5071581,essv5053912,essv5134895,essv5072045,essv5084254,essv5056308,essv5031919,essv5107631,essv5081459,essv5138585,essv5078227,essv5070257,essv5070263,essv5071817,essv5102419,essv5144909,essv5100852,essv5100791,essv5117065,essv5123520,essv5026696,essv5045485,essv5071526,essv5126544,essv5065363,essv5055188,essv5094992,essv5088300,essv5086694,essv5054607,essv5085234,essv5154972,essv5137141,essv5033230,essv5153174,essv5043053,essv5055307,essv5054736,essv5034720,essv5082398,essv5050724,essv5040013,essv5138751,essv5111134,essv5121111,essv5101127,essv5074927,essv5032924,essv5020124,essv5146788,essv5023857,essv5094328,essv5098925,essv5148927,essv5150106,essv5042800,essv5133032,essv5032272,essv5118485,essv5134635,essv5025250,essv5013144,essv5058283,essv5127961,essv5036687 M 1184 0 94 "" NA07055,NA07345,NA07348,NA10835,NA10843,NA10855,NA10865,NA11832,NA11891,NA11919,NA11931,NA12003,NA12056,NA12155,NA12249,NA12383,NA12386,NA12400,NA12707,NA12749,NA12760,NA12817,NA12828,NA17970,NA18613,NA18867,NA19058,NA19088,NA19121,NA19147,NA19148,NA19182,NA19206,NA19209,NA19225,NA19308,NA19317,NA19327,NA19372,NA19382,NA19390,NA19431,NA19437,NA19443,NA19448,NA19452,NA19469,NA19470,NA19472,NA19473,NA19474,NA19625,NA19658,NA19712,NA19719,NA19720,NA19721,NA19726,NA19727,NA19749,NA19755,NA19759,NA19760,NA19776,NA19780,NA19782,NA19789,NA19982,NA20288,NA20359,NA20517,NA20529,NA20531,NA20539,NA20581,NA20785,NA20856,NA20862,NA20870,NA20898,NA21317,NA21379,NA21415,NA21434,NA21475,NA21489,NA21490,NA21491,NA21510,NA21512,NA21573,NA21580,NA21611,NA21784 dgv229n27 13 68147928 68159813 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455942,nsv455947,nsv455939,nsv455950,nsv455949,nsv455946,nsv455953,nsv455948,nsv455940,nsv455954,nsv455945,nsv455955,nsv455943,nsv455951,nsv455944 M 1557 0 15 "" 1780854017_A,1780854573_A,1780862002_A,HGDP00710,HGDP00838,HGDP00845,HGDP00846,HGDP00852,HGDP00875,HGDP00970,HGDP00986,HGDP00998,HGDP01009,NINDS_165,NINDS_67 nsv818973 13 68147928 68159813 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415696,nssv1415697,nssv1416269,nssv1418023,nssv1418024,nssv1415698 M 112 0 6 "" NA07345,NA07348,NA10835,NA12056,NA12248,NA12249 nsv433271 13 68147928 68164923 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463152 S 9 0 1 "" NA15510 nsv442674 13 68149981 68166243 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514708 13 68150008 68163792 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628187 S 1414 0 1 "" nsv438255 13 68150839 68155761 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470610,nssv470611 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10855,NA11832 dgv230n27 13 68151863 68159813 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455956,nsv455957 M 1557 0 2 "" 1780862080_A,HGDP00654 nsv510610 13 68154643 68168981 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618902 S 4 0 1 "" NA10860 esv2466284 13 68171686 68173180 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316760 S 1 0 1 "" NA18507 nsv900451 13 68188387 68285267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513966 S 6533 0 1 MIR548H4 SP55878 dgv569e1 13 68253637 68290580 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1013,essv2420 M 271 0 0 MIR548H4 NA18951 nsv900452 13 68257392 68285267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569343 S 6533 0 1 MIR548H4 IS31563 nsv510611 13 68257652 68261704 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620064 S 4 0 1 MIR548H4 NA15510 nsv471145 13 68273633 68286777 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545418 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548H4 HGDP00579 nsv826691 13 68283797 68290971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438412,nssv1439238 M 31 0 2 MIR548H4 NA18951,NA18973 nsv818974 13 68285687 68289513 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417404 S 112 0 1 MIR548H4 NA18951 esv26297 13 68288608 68289624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13890 S 451 0 1 MIR548H4 NA18508 nsv471146 13 68342491 68382934 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545419 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC338862,MIR548H4 HGDP00626 nsv455958 13 68346115 68379734 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533406 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC338862,MIR548H4 HGDP00626 dgv1669n71 13 68347432 68655983 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900459,nsv900453 M 6533 0 2 LOC338862,MIR548H4 MS13480,MS17114 dgv1670n71 13 68382934 68477428 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900455,nsv900454 M 6533 2 0 MIR548H4 MS17522,MS18247 dgv1671n71 13 68382934 68513360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900456,nsv900457,nsv900458 M 6533 0 3 MIR548H4 IS35145,MS15199,MS18978 nsv471147 13 68398673 68457371 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545421 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548H4 HGDP00875 nsv900460 13 68418063 68572813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541447 S 6533 0 1 MIR548H4 MS15312 nsv900461 13 68431470 68538880 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575827 S 6533 1 0 MIR548H4 IS33812 nsv455960 13 68437183 68488678 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533407 S 1557 0 1 MIR548H4 1780862380_A nsv900462 13 68443436 68496480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595000 S 6533 0 1 MIR548H4 IS40067 nsv900463 13 68459091 68484194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515353 S 6533 0 1 MIR548H4 SP56172 nsv818975 13 68460886 68491474 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418504 S 112 0 1 MIR548H4 NA19193 nsv900464 13 68463835 68498838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570272 S 6533 0 1 MIR548H4 IS31849 nsv900465 13 68466613 68710253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574298 S 6533 0 1 MIR548H4 IS33533 nsv523066 13 68480135 68481740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698752 S 2026 0 1 "" nsv900466 13 68501543 68572813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600296 S 6533 0 1 "" IS41867 dgv1672n71 13 68522335 68611259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900470,nsv900468,nsv900467 M 6533 0 4 "" IS31145,MS17028,MS23145,MS25986 nsv900469 13 68529126 68572813 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538435,nssv1569506,nssv1567402,nssv1583257,nssv1593563,nssv1551815 M 6533 1 5 "" IS31074,IS31587,IS36364,IS39450,MS13727,MS18978 nsv900471 13 68529126 68639898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568991 S 6533 0 1 "" IS31385 dgv1673n71 13 68529126 68710253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900473,nsv900472 M 6533 0 2 "" IS31137,MS22858 nsv516856 13 68556977 68557913 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654775,nssv654468,nssv675376 M 2026 3 0 "" nsv455961 13 68556977 68599293 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533408 S 1557 0 1 "" 1782681080_A esv268081 13 68568735 68568893 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557859,essv2540830,essv2521150,essv2522913,essv2544169,essv2571016,essv2570375,essv2548546,essv2550558,essv2525312,essv2535096,essv2552074,essv2520583,essv2547522,essv2558636,essv2564672,essv2577889,essv2553668,essv2559570,essv2576475,essv2564079,essv2554843,essv2530858,essv2561793,essv2537661,essv2528230,essv2546701,essv2540112,essv2520917,essv2557229,essv2552358,essv2532114,essv2562748,essv2569352,essv2569774,essv2527034,essv2561590,essv2544926,essv2541204,essv2542810,essv2524444,essv2539590,essv2519628,essv2522303,essv2528681,essv2569981,essv2553335,essv2535885,essv2566687,essv2541912,essv2550930,essv2569021,essv2543744,essv2528117,essv2562507,essv2539241,essv2534165,essv2555428,essv2567169,essv2566626,essv2573936,essv2534384,essv2522347,essv2525804,essv2526995,essv2529822,essv2575603,essv2575202,essv2526440,essv2524150,essv2574797,essv2572881,essv2568617,essv2560301,essv2549972,essv2548757,essv2533228,essv2554766,essv2547883 M 157 79 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA10851,NA11831,NA11894,NA11931,NA11992,NA11993,NA12044,NA12045,NA12155,NA12156,NA12249,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18520,NA18522,NA18523,NA18526,NA18545,NA18550,NA18555,NA18563,NA18566,NA18571,NA18579,NA18593,NA18605,NA18608,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18943,NA18947,NA18948,NA18951,NA18959,NA18960,NA18980,NA19005,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19143,NA19147,NA19190,NA19225 esv274163 13 68568736 68568892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581822,essv2582305,essv2583169 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv989493 13 68568757 68568764 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571531 S 3 1 0 "" HuRef nsv900474 13 68582849 68671504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560155 S 6533 1 0 "" MS24343 nsv507709 13 68633738 68639738 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619110,nssv620543 M 4 2 0 "" NA10860,NA15510 nsv523455 13 68638182 68639898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699213 S 2026 0 1 "" nsv900475 13 68657677 68673098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576658 S 6533 0 1 "" IS34218 nsv900476 13 68657677 68680362 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566234,nssv1578896,nssv1554642,nssv1576825,nssv1579157,nssv1567864,nssv1555157,nssv1583585,nssv1566177,nssv1567331,nssv1589266,nssv1598732,nssv1568473,nssv1535588,nssv1580139,nssv1532050,nssv1587267,nssv1598196 M 6533 2 16 "" IS30597,IS30616,IS31067,IS31166,IS31286,IS34262,IS34962,IS35027,IS35229,IS36533,IS37999,IS38330,IS41043,IS41189,MS10699,MS12266,MS20872,MS21214 nsv900477 13 68657677 68687326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591761,nssv1582372 M 6533 0 2 "" IS35911,IS39011 nsv900478 13 68657677 68710253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535209 S 6533 0 1 "" MS12071 nsv818976 13 68660896 68664391 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417670 S 112 1 0 "" NA18994 dgv231n27 13 68660944 68673098 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455965,nsv455964 M 1557 0 2 "" NINDS_114,NINDS_142 nsv471148 13 68660944 68680362 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545422 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv900479 13 68722820 68882298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512738 S 6533 0 1 "" SP55610 dgv111n21 13 68778147 68778302 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528300,nsv523328 M 2026 0 2 "" nsv900480 13 68789862 68925795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551816 S 6533 0 1 "" MS18978 esv25371 13 68834887 68839820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20456 S 451 0 1 "" NA18523 esv2484453 13 68864060 68865664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341396 S 1 0 1 "" NA18507 esv2180263 13 68864478 68865158 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794263 S 1 0 1 "" NA18507 esv3904 13 68864620 68865015 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26345 S 1 0 1 Single Asian sample YH "" YH esv8791 13 68864653 68864968 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31232 S 1 0 1 "" SJK esv2545304 13 68864663 68864961 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381096 S 1 0 1 "" NA18507 esv271097 13 68954928 68955269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514523,essv2514846,essv2514398,essv2517662 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12234,NA12874,NA12878 esv273574 13 68954928 68955269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581407 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1682974 13 68977644 68977698 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121782 S 2 0 1 "" HuRef esv27898 13 69023499 69024921 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20329 S 451 0 1 "" NA19225 esv1156606 13 69023899 69023899 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712669 S 2 1 0 "" HuRef nsv900481 13 69045852 69458732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600785 S 6533 0 1 KLHL1 IS41924 nsv900482 13 69084606 69281877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503823 S 6533 0 1 KLHL1 SP52114 esv2092868 13 69105705 69106271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515341 S 1 0 1 "" NA18507 esv2882 13 69105829 69106206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25323 S 1 0 1 Single Asian sample YH "" YH nsv900483 13 69152556 69362235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583000 S 6533 0 1 KLHL1 IS36219 esv274011 13 69162348 69162688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580749 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271380 13 69162369 69162718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502911,essv2511800,essv2509921,essv2494024,essv2499051,essv2510906,essv2510485,essv2497086,essv2512143,essv2502062 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12156,NA18499,NA18508,NA18871,NA19114,NA19116,NA19172,NA19190,NA19238,NA19257 esv269207 13 69168180 69168514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495270,essv2510317,essv2504175,essv2509827,essv2497100,essv2502223 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12414,NA18505,NA18508,NA19190,NA19257 dgv1674n71 13 69196301 69281877 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900485,nsv900484 M 6533 0 2 KLHL1 SP52122,SP55851 nsv900486 13 69200992 69319897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579324 S 6533 0 1 KLHL1 IS35083 nsv832643 13 69222441 69384662 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450340 S 95 1 0 KLHL1 nsv900487 13 69225694 69446644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567039 S 6533 0 1 KLHL1 IS31041 nsv826692 13 69287999 69288765 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426082 S 31 1 0 KLHL1 AK4 nsv436166 13 69299338 69305453 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466742 S 2 0 1 Samples from several populations that are part of the HapMap project. KLHL1 NA18505 esv2564277 13 69299461 69305644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176495 S 1 0 1 KLHL1 NA18507 esv2405237 13 69299875 69304986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567539 S 1 0 1 KLHL1 NA18507 esv27552 13 69299983 69305256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10859,esv12608 M 451 0 3 KLHL1 NA12044,NA12156,NA18505 nsv510347 13 69312540 69318540 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621401,nssv622234,nssv624145 M 4 0 3 KLHL1 NA10860,NA15510,NA18994 dgv1675n71 13 69385283 69458732 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900490,nsv900488,nsv900492 M 6533 0 3 KLHL1 IS31554,MS12266,MS15199 dgv1676n71 13 69385283 69476307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900489,nsv900493,nsv900491 M 6533 0 3 KLHL1 IS36219,IS38463,MS15036 nsv900494 13 69481647 69542891 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574391 S 6533 1 0 KLHL1 IS33552 esv2422425 13 69493690 69538063 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161423 S 181 0 1 KLHL1 ND01570 nsv900495 13 69510413 69556405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524326 S 6533 1 0 KLHL1 SP54973 nsv455967 13 69538646 69604009 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533411 S 1557 0 1 ATXN8OS,KLHL1 1780854197_A nsv519463 13 69542891 69546838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656276,nssv657579,nssv689258,nssv660887,nssv673962,nssv672506 M 2026 0 6 KLHL1 nsv900496 13 69626412 69661598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535590 S 6533 0 1 "" MS12266 dgv1677n71 13 69626412 69689787 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900497,nsv900501,nsv900500 M 6533 0 5 "" IS34645,IS37702,IS40033,IS40296,MS18978 dgv1678n71 13 69626412 69749360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900498,nsv900499 M 6533 0 2 "" IS31123,MS18620 nsv471150 13 69629239 69676218 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545424,nssv545423 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199,HGDP01300 nsv9087 13 69633412 69673593 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21878,nssv21557,nssv20926,nssv23463,nssv21184,nssv24818,nssv26516,nssv21615,nssv20616,nssv24554,nssv21819,nssv24338,nssv21325,nssv19952,nssv20823,nssv24324,nssv19121,nssv22528,nssv21719,nssv19279,nssv21907,nssv20786,nssv19522,nssv20514,nssv19235,nssv23621,nssv18790,nssv21020,nssv24336,nssv20988 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv26052 13 69633734 69673485 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19736,esv17004 M 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821143 13 69633734 69673733 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421050 S 1 0 1 "" NA10851 dgv77e55 13 69634065 69678281 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751150,esv2751148,esv2751149,esv2751151 M 771 0 4 "" BEC_343,BEC_395,BEC_405,SPC_108 dgv570e1 13 69634065 69687992 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18691,essv21958,essv18556,esv1053 M 271 0 0 "" NA07000,NA10851,NA12056 dgv334n67 13 69634151 69673460 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826694,nsv826693 M 31 0 25 "" AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv819022 13 69634400 69673490 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418728 S 2 1 0 "" AK1 nsv818978 13 69637654 69666685 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416271,nssv1417064,nssv1416270 M 112 0 3 "" NA07000,NA10851,NA12056 dgv232n27 13 69637654 69676218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455973,nsv455972,nsv455971 M 1557 0 3 "" 1780862226_A,1780862384_A,HGDP01300 nsv517757 13 69637654 69676218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676146,nssv655209,nssv688739,nssv680319,nssv677488,nssv665145,nssv687689,nssv692891,nssv671566,nssv693630,nssv669448,nssv673265,nssv653136,nssv686018,nssv687738,nssv662982,nssv655467,nssv668505,nssv674948,nssv670384,nssv684455,nssv673634,nssv682623 M 2026 0 23 "" nsv442318 13 69640329 69670896 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv510348 13 69642382 69648382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624146 S 4 0 1 "" NA18994 dgv78e55 13 69642500 69670400 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34403,esv35071 M 771 0 2 "" NA07000,NA10851 nsv455975 13 69647985 69666685 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533416 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01072 nsv455976 13 69647985 69676218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533417 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00807 nsv900502 13 69664029 69797444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552019 S 6533 0 1 "" MS19119 nsv519396 13 69705950 69717579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656946,nssv672027,nssv655902 M 2026 0 3 "" nsv1079 13 69713483 69758210 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9136 S 9 0 1 "" NA12156 esv274565 13 69732519 69732885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579080,essv2579730 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268635 13 69732522 69732845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552483,essv2551669,essv2533840,essv2529658,essv2574755,essv2530239,essv2571226 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18916,NA19093,NA19138,NA19141,NA19238 esv1949450 13 69759501 69760197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629332 S 1 0 1 "" NA18507 nsv900503 13 69782413 69823821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517769 S 6533 0 1 "" SP57367 nsv900504 13 69797444 69827475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513967 S 6533 0 1 "" SP55878 dgv1679n71 13 69797444 69864728 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900506,nsv900505 M 6533 0 2 "" MS15199,MS21117 nsv900507 13 69797444 69899033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517979 S 6533 0 1 "" SP57418 nsv900508 13 69797444 69938112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514942 S 6533 1 0 "" SP56100 nsv455977 13 69809017 69867303 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533418 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00584 dgv1680n71 13 69817938 70023128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900510,nsv900509 M 6533 0 2 "" IS30720,IS41870 dgv1681n71 13 69835592 69905647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900511,nsv900513,nsv900512 M 6533 0 4 "" IS36244,IS39011,SP56294,SP58537 nsv509508 13 69849594 69849594 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618102 S 4 1 0 "" CHM dgv1682n71 13 69870784 69905647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900516,nsv900515,nsv900514 M 6533 0 9 "" MS10499,MS11993,MS12154,MS12597,MS20152,MS23210,MS24083,SP51493,SP55842 nsv471151 13 69922412 69990908 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545425 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00907 esv272431 13 69939845 69940184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584569,essv2583850 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270431 13 69939850 69940167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521564,essv2550325,essv2547521,essv2564635,essv2557071,essv2532287,essv2550127,essv2537152,essv2561536,essv2562989,essv2541179,essv2542954,essv2562215,essv2555274,essv2545942,essv2574504,essv2524768,essv2557777 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA12144,NA12234,NA12717,NA12751,NA18501,NA18505,NA18511,NA18517,NA18523,NA18532,NA18545,NA18550,NA18909,NA18943,NA19239,NA19240 esv2421559 13 69967709 69985840 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5043921,essv5021936,essv5052032,essv5139069,essv5040238,essv5016614,essv5116570,essv5052947,essv5110921,essv5071407,essv5001922,essv5110760,essv5104373,essv5027456,essv5109411 M 1184 0 15 "" NA19095,NA19404,NA19455,NA19663,NA19908,NA19919,NA21301,NA21344,NA21357,NA21366,NA21382,NA21383,NA21509,NA21521,NA21825 nsv516669 13 69969424 69982998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655583,nssv676928,nssv670040 M 2026 0 3 "" nsv455978 13 70006878 70094462 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533419 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01220 nsv471152 13 70016372 70119791 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545426 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00629 esv267659 13 70040367 70040578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510148,essv2511055,essv2503239,essv2495417,essv2511455,essv2495272,essv2504462,essv2499358,essv2500188,essv2512471,essv2499442,essv2508079,essv2501664,essv2502901,essv2513171,essv2495375,essv2508567,essv2502531,essv2507794,essv2503777,essv2493345,essv2508895,essv2500256,essv2502958,essv2501106,essv2493811,essv2494904,essv2500427,essv2497193,essv2497754,essv2499962,essv2506366,essv2500627,essv2494485,essv2500072,essv2508104,essv2508602,essv2509978,essv2496099,essv2499254,essv2512891,essv2507551,essv2505305,essv2505967,essv2495702,essv2511683,essv2504978,essv2511065,essv2497879,essv2502370,essv2493037,essv2509390,essv2503697,essv2495941,essv2495181,essv2500779,essv2512797,essv2501217,essv2506484,essv2510826,essv2497601,essv2510490,essv2497058,essv2512030,essv2501940,essv2498220,essv2503917,essv2504395,essv2499514,essv2513030 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA07357,NA10847,NA11829,NA11831,NA11881,NA11919,NA11920,NA11992,NA11993,NA11994,NA12006,NA12043,NA12044,NA12045,NA12144,NA12156,NA12249,NA12287,NA12717,NA12750,NA12751,NA12761,NA12776,NA12878,NA12891,NA18507,NA18516,NA18517,NA18520,NA18537,NA18552,NA18555,NA18558,NA18566,NA18571,NA18572,NA18573,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18861,NA18916,NA18940,NA18942,NA18944,NA18945,NA18948,NA18951,NA18953,NA18960,NA18961,NA18964,NA18973,NA18980,NA19093,NA19108,NA19116,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240 esv274062 13 70040375 70040576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580729 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv819475 13 70095836 70098048 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419401 S 2 0 1 "" AK1 dgv335n67 13 70095874 70098004 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826699,nsv826695,nsv826701,nsv826696,nsv826700 M 31 0 12 "" AK12,AK14,AK16,AK18,AK4,NA18526,NA18566,NA18582,NA18951,NA18968,NA18973,NA18999 esv5297 13 70095901 70098165 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27738 S 1 0 1 Single Asian sample YH "" YH esv7751 13 70095935 70098004 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30192 S 1 0 1 "" SJK dgv1683n71 13 70174190 70227966 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900518,nsv900517 M 6533 0 2 "" IS30432,IS39718 nsv900519 13 70232556 70273320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581596 S 6533 0 1 "" IS35654 nsv528897 13 70245124 70250047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705581 S 2026 0 1 "" esv2236448 13 70245413 70245791 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874437 S 1 0 1 "" NA18507 nsv1080 13 70271599 70316874 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9137 S 9 0 1 "" NA12156 esv2488935 13 70274999 70276536 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347000 S 1 0 1 "" NA18507 nsv832644 13 70276042 70440953 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450353,nssv1450347,nssv1450342,nssv1450341,nssv1450346,nssv1450345,nssv1450343,nssv1450354,nssv1450344,nssv1450352,nssv1450349,nssv1450351,nssv1450348 M 95 0 13 "" nsv527006 13 70307941 70307992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703381 S 2026 0 1 "" dgv112n21 13 70310985 70328586 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525164,nsv522371 M 2026 0 2 "" nsv442319 13 70314510 70328585 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818979 13 70315922 70328586 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417259 S 112 0 1 "" NA18593 nsv455979 13 70318425 70328586 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533420 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01237 dgv1684n71 13 70411717 70503575 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900520,nsv900522 M 6533 0 2 "" IS30522,IS31067 nsv900521 13 70434610 70483999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567985 S 6533 0 1 "" IS31179 nsv528769 13 70440204 70443355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705433 S 2026 0 1 "" nsv510349 13 70451269 70457269 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621403 S 4 0 1 "" NA15510 esv2450100 13 70565177 70566680 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275539 S 1 0 1 "" NA18507 esv1775256 13 70590207 70590207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864667 S 2 1 0 "" HuRef nsv522603 13 70629457 70639393 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705994 S 2026 0 1 "" nsv826702 13 70740164 70744817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422906 S 31 0 1 "" NA18552 nsv900523 13 70842044 70907603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511916 S 6533 0 1 "" SP55174 esv21632 13 70892294 70901357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17597 S 451 0 2 "" NA12239,NA12414 nsv471153 13 70907603 70946097 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545427 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DACH1 HGDP00690 nsv900524 13 70929461 71033579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583586 S 6533 0 1 DACH1 IS36533 dgv1685n71 13 70964606 71101093 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv900525,nsv900531 M 6533 11 8 DACH1 IS30432,IS31401,IS34393,IS36911,IS38330,IS41340,MS10778,MS11312,MS15199,MS15808,MS18240,MS18873,MS20872,MS22104,MS23191,MS23791,MS25751,MS26061,SP52694 nsv900526 13 70964606 71112463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579325 S 6533 0 1 DACH1 IS35083 nsv900527 13 70964606 71135749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598712 S 6533 1 0 DACH1 IS41189 nsv900528 13 70971925 71033579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517770 S 6533 0 1 DACH1 SP57367 nsv832645 13 70977801 71167555 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450357,nssv1450355,nssv1450356 M 95 3 0 DACH1 dgv1686n71 13 70989864 71086523 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900529,nsv900538,nsv900530 M 6533 0 4 DACH1 IS31213,IS38162,MS21214,MS22741 dgv1687n71 13 70989864 71147140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900534,nsv900533,nsv900542,nsv900541,nsv900545,nsv900544,nsv900532,nsv900540 M 6533 0 36 DACH1 IS30531,IS30635,IS31046,IS31118,IS31285,IS31307,IS31481,IS31546,IS31706,IS31765,IS31875,IS32150,IS35196,IS35549,IS37065,IS38183,IS38263,IS39100,IS39718,IS39944,IS41043,MS10580,MS10727,MS11669,MS12266,MS13426,MS13721,MS15312,MS16898,MS17114,MS17611,MS18847,MS19035,MS19634,MS21252,MS23290 nsv471154 13 70989864 71185615 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545429,nssv545430,nssv545432,nssv545428 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DACH1 HGDP00544,HGDP01226,HGDP01357,HGDP01363 dgv1688n71 13 70989864 71235944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900536,nsv900535,nsv900543,nsv900546 M 6533 0 4 DACH1 IS35572,IS38463,MS18978,MS24785 nsv900537 13 70999362 71049280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513347 S 6533 0 1 DACH1 SP55747 nsv900539 13 70999362 71101093 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597014,nssv1544614,nssv1593853,nssv1574539,nssv1571740 M 6533 5 0 DACH1 IS32803,IS33592,IS39529,IS40703,MS16398 nsv455981 13 71023642 71094982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533421 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DACH1 HGDP00963 nsv455984 13 71043339 71138564 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533422 S 1557 0 1 DACH1 NINDS_189 nsv510612 13 71057047 71077622 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618903 S 4 0 1 DACH1 NA10860 nsv900547 13 71161983 71235944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579867,nssv1523464 M 6533 0 2 DACH1 IS35181,SP54030 nsv900548 13 71185615 71263372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568829 S 6533 0 1 DACH1 IS31359 esv1703652 13 71206333 71206588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977398 S 2 0 1 DACH1 HuRef esv2399056 13 71207274 71207708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957932 S 1 0 1 DACH1 NA18507 nsv64658 13 71207290 71207357 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83236 M 24 DACH1 esv1592042 13 71207561 71207645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918828 S 2 0 1 DACH1 HuRef nsv510350 13 71216207 71222207 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622235 S 4 0 1 DACH1 NA10860 dgv571e1 13 71226326 71383406 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22597,esv444,essv21006 M 271 0 0 DACH1 NA06991,NA07348 esv272653 13 71251554 71251763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580526 S 7 1 0 Samples from several populations that are part of the HapMap project. DACH1 NA19238 esv2441342 13 71274470 71276068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327009 S 1 0 1 DACH1 NA18507 esv1005359 13 71284639 71284688 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583325 S 3 0 1 DACH1 HuRef esv1241719 13 71284672 71284722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109643 S 2 0 1 DACH1 HuRef nsv1081 13 71320260 71379689 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9138,nssv4076 M 9 0 2 DACH1 NA12156,NA12878 nsv510613 13 71373946 71388298 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617408 S 4 0 1 "" CHM nsv9088 13 71374967 71378998 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21849,nssv19982,nssv21937,nssv19265,nssv21214 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA11830,NA12740 nsv511515 13 71374989 71387788 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626135 S 1 0 1 "" 1 nsv826703 13 71375197 71377871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423720 S 31 0 1 "" NA18999 dgv43e180 13 71375197 71378163 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1007639,esv993247 M 3 0 1 "" HuRef nsv512327 13 71375210 71378769 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624908 S 1 0 1 "" 1 esv24485 13 71375227 71378755 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11363 S 451 0 20 "" NA06985,NA07037,NA07045,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA18508,NA18861,NA18909,NA18916,NA19099,NA19114 esv996694 13 71375230 71385463 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563584 S 3 0 1 "" HuRef nsv498817 13 71375265 71378579 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585678 S 9 0 1 "" esv2421593 13 71375556 71378557 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5148719,essv5119287,essv5063590,essv5074145,essv5111123,essv5051643,essv5022050,essv5105557,essv5142565,essv5089085,essv5003314,essv5028139,essv5153498,essv5076723,essv5123071,essv5080717,essv5089329,essv5123756,essv5154936,essv5109990,essv5035970,essv5155360,essv5121801,essv5117256,essv5103482,essv5007085,essv5097363,essv5016274,essv5102094,essv5071580,essv5062384,essv5137044,essv5008049,essv5158835,essv5106826,essv5084550,essv5034875,essv5115088,essv5112106,essv5077895,essv5100727,essv5132358,essv5056610,essv5022999,essv5049112,essv5074814,essv5035300,essv5110376,essv5078656,essv5007401,essv5074124,essv5158786,essv5136506,essv5105648,essv5013832,essv5076659,essv5043752,essv5112853,essv5017416,essv5124165,essv5002533,essv5103282,essv5028502,essv5088941,essv5052654,essv5125250,essv5051264,essv5022461,essv5007895,essv5111137,essv5050525,essv5128200,essv5096394,essv5023043,essv5070818,essv5061215,essv5118156,essv5077194,essv5066221,essv5072846,essv5133453,essv5146226,essv5114448,essv5015164,essv5023572,essv5081318,essv5069301,essv5155330,essv5152375,essv5122676,essv5045521,essv5047234,essv5041232,essv5009528,essv5159930,essv5027823,essv5016986,essv5074545,essv5087328,essv5045763,essv5133161,essv5086929,essv5010792,essv5071151,essv5039908,essv5148263,essv5111821,essv5099227,essv5026186,essv5080567,essv5150925,essv5106606,essv5066869,essv5082641,essv5005115,essv5061512,essv5158890,essv5008271,essv5127134,essv5067927,essv5088050,essv5031455,essv5041593,essv5013143,essv5077902,essv5022657,essv5073227,essv5133175,essv5035270,essv5135391,essv5133344,essv5089104,essv5094771,essv5018249,essv5094945,essv5154216,essv5077123,essv5148155,essv5013943,essv5019805,essv5096068,essv5148560,essv5129323,essv5042840,essv5150464,essv5011389,essv5115938,essv5022405,essv5151815,essv5137227,essv5048045,essv5072909,essv5111209,essv5046774,essv5029517,essv5078492,essv5067867,essv5028330,essv5153149,essv5055939,essv5134213,essv5109208,essv5152140,essv5124502,essv5012946,essv5101532,essv5146073,essv5028128,essv5011949,essv5137202,essv5074441,essv5083935,essv5130137,essv5151128,essv5010309,essv5117320,essv5146955,essv5097941,essv5015194,essv5077210,essv5027263,essv5007718,essv5148634,essv5005168,essv5023659,essv5100776,essv5068886,essv5067410,essv5119870,essv5033553,essv5070945,essv5083326,essv5024138,essv5072729,essv5066398,essv5049588,essv5132968,essv5117043,essv5116530,essv5133963,essv5068070,essv5111754,essv5144994,essv5151429,essv5154162,essv5015319,essv5048695,essv5074613,essv5123618,essv5079067,essv5143015,essv5129062,essv5058112,essv5139993,essv5068271,essv5120530,essv5136572,essv5135035,essv5158349,essv5050957,essv5031758,essv5092613,essv5033838,essv5003806,essv5127753,essv5047862,essv5159924,essv5148526,essv5131643,essv5078376,essv5123965,essv5040456,essv5101650,essv5046502,essv5118003,essv5069488,essv5028521,essv5157929,essv5159093,essv5097865,essv5079182,essv5074670,essv5004507,essv5064663,essv5045834,essv5079890,essv5100633,essv5113001,essv5036578,essv5136001,essv5066542,essv5070797,essv5139570,essv5076016,essv5015113,essv5086868,essv5043351,essv5152836,essv5031705,essv5089957,essv5150173,essv5152081,essv5114821,essv5068279,essv5152654,essv5029472,essv5118096,essv5076576,essv5139477,essv5075401,essv5141500,essv5124670,essv5085577,essv5102355,essv5113925,essv5118714,essv5121596,essv5125576,essv5087479,essv5055306,essv5120739,essv5073585,essv5080496,essv5159712,essv5145464,essv5016290,essv5051455,essv5134946,essv5148162,essv5084313,essv5007284,essv5060915,essv5101180,essv5098219,essv5051618,essv5051295,essv5008795,essv5023299,essv5072808,essv5040172,essv5133036,essv5050618,essv5150325,essv5097389,essv5147958,essv5109725,essv5013525,essv5143693,essv5091396,essv5082984,essv5018682,essv5063011,essv5133114,essv5010101,essv5125391,essv5147425,essv5030066,essv5137877,essv5005342,essv5120613,essv5135814,essv5008081,essv5136319,essv5014384,essv5010325,essv5122893,essv5070258,essv5087306,essv5144215,essv5031349,essv5101552,essv5131336,essv5082016,essv5129492,essv5139624,essv5144077,essv5083501,essv5022577,essv5101638,essv5023291,essv5017280,essv5102744,essv5030378,essv5061857,essv5138112,essv5110880,essv5028370,essv5095969,essv5031997,essv5059561,essv5018135,essv5103183,essv5092998,essv5140984,essv5109569,essv5058162,essv5021094,essv5147620,essv5014279,essv5144019,essv5093137,essv5159836,essv5129885,essv5013612,essv5106157,essv5007957,essv5062656,essv5117313,essv5160789,essv5058368,essv5111536,essv5081162,essv5042058,essv5047964,essv5121973,essv5120315,essv5147122,essv5013903,essv5147617,essv5109674,essv5015663,essv5010572,essv5110912,essv5088059,essv5123109,essv5030751,essv5093452,essv5041792,essv5028169,essv5023896,essv5081677,essv5129359,essv5139332,essv5068438,essv5131572,essv5086415,essv5151941,essv5094591,essv5002695,essv5154209,essv5086149,essv5110835,essv5078109,essv5037013,essv5138692,essv5078521,essv5055203,essv5142278,essv5069395,essv5130283,essv5130423,essv5115418,essv5125665,essv5148728,essv5042022,essv5087900,essv5040132,essv5048534,essv5060302,essv5120800,essv5014726,essv5088271,essv5136626,essv5058615,essv5148333,essv5132607,essv5077092,essv5034325,essv5116168,essv5156960,essv5027940,essv5083650,essv5090780,essv5048767,essv5087387,essv5142923,essv5064029,essv5072168,essv5035667,essv5039841,essv5085025,essv5156364,essv5020437,essv5021302,essv5156841,essv5067330,essv5137975,essv5073534,essv5050676,essv5075192,essv5141546,essv5068406,essv5120372,essv5032123,essv5061683,essv5018384,essv5048047,essv5017313,essv5123156,essv5102819,essv5005093,essv5160183,essv5071626,essv5105990,essv5136985,essv5099108,essv5023456,essv5006213,essv5151904,essv5007300,essv5094246,essv5036179,essv5026215,essv5094061,essv5116163,essv5073910,essv5068821,essv5149679,essv5063344,essv5080363,essv5016098,essv5002662,essv5149313,essv5137066,essv5067135,essv5088414,essv5032385,essv5068934,essv5066451,essv5140340,essv5063677,essv5157911,essv5016550,essv5096145,essv5102269,essv5140191,essv5107043,essv5149238,essv5029624,essv5139275,essv5038897,essv5032728,essv5142281,essv5092980,essv5056344,essv5072946,essv5119831,essv5128479,essv5106520,essv5011501,essv5135138,essv5031723,essv5156971,essv5123671,essv5087590,essv5040530,essv5077022,essv5084697,essv5033153,essv5134395,essv5017514,essv5149180,essv5082766,essv5074772,essv5071945,essv5072194,essv5112870,essv5156189,essv5046046,essv5071388,essv5040089,essv5122080,essv5026161,essv5137432,essv5007928,essv5030878,essv5096820,essv5089840,essv5049752,essv5084086,essv5046586,essv5031493,essv5094814,essv5079686,essv5003839,essv5134736,essv5068860,essv5059134,essv5009600,essv5043765,essv5098186,essv5091945,essv5078225,essv5063615,essv5048371,essv5142997,essv5099942,essv5124240,essv5058776,essv5152493,essv5005404,essv5034324,essv5022755,essv5052530,essv5108679,essv5064376,essv5045012,essv5037932,essv5113758,essv5150972,essv5099104,essv5134173,essv5038371,essv5139469,essv5127329,essv5037931,essv5101461,essv5088070,essv5018125,essv5024908,essv5147946,essv5116755,essv5104980,essv5099919,essv5142007,essv5043706,essv5008410,essv5059466,essv5062196 M 1184 0 589 "" 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nsv442675 13 71375556 71378557 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422012 13 71375556 71387378 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5021058,essv5031109,essv5086905,essv5048456,essv5135620,essv5148405,essv5151847,essv5053399,essv5112028,essv5147183,essv5116623,essv5005225,essv5127334,essv5044731,essv5052057,essv5106299,essv5116291,essv5160696,essv5127550,essv5011740,essv5144920,essv5100889,essv5104107,essv5134106,essv5068098,essv5094608,essv5142880,essv5107563,essv5087692,essv5150026,essv5132455,essv5119659,essv5106275,essv5115027,essv5076137,essv5063874,essv5072186,essv5127361,essv5073946,essv5017867,essv5105718,essv5140699,essv5120029,essv5019455,essv5100472,essv5011529,essv5144248,essv5011294,essv5130683,essv5127886,essv5028777,essv5103030,essv5121187,essv5156134,essv5060195,essv5159142,essv5101024,essv5013390,essv5113916,essv5087383,essv5042135,essv5087026,essv5156731,essv5135937,essv5120458,essv5112564,essv5120322,essv5159641,essv5051140,essv5074888,essv5087375,essv5069156,essv5003687,essv5116261,essv5153571,essv5023778,essv5122029,essv5065452,essv5121577,essv5052413,essv5132422,essv5060608,essv5014610,essv5057257,essv5019986,essv5091974,essv5104376,essv5021147,essv5074627,essv5101798,essv5030775,essv5139227,essv5116461,essv5082156,essv5102871,essv5149947,essv5070009,essv5125215,essv5146063,essv5075149,essv5070426,essv5005803,essv5056218,essv5103365,essv5020580,essv5066967,essv5146495,essv5045704,essv5002184,essv5053018,essv5086746,essv5115151,essv5031222,essv5129924,essv5143315,essv5060208,essv5049059,essv5112721,essv5149167,essv5071032,essv5114577,essv5003459,essv5072289,essv5037962,essv5093594,essv5050195,essv5085126,essv5041571,essv5138454,essv5156526,essv5067257,essv5097072,essv5006500,essv5049422,essv5049489,essv5076845,essv5009881,essv5105649,essv5081925,essv5022651,essv5007935,essv5074961,essv5142517,essv5147905,essv5029821,essv5115154,essv5017069,essv5076621,essv5026447,essv5101029,essv5140715,essv5158884,essv5057984,essv5049095,essv5110060,essv5020806,essv5060122,essv5102729,essv5048685,essv5064707,essv5141249,essv5119097,essv5064904,essv5041015,essv5101871,essv5133782,essv5151259,essv5106247,essv5029570,essv5118192,essv5060882,essv5103741,essv5041212,essv5031536,essv5097035,essv5136194,essv5004056,essv5091409,essv5002904,essv5072533,essv5111768,essv5108374,essv5004643,essv5133654,essv5064181,essv5092847,essv5146902,essv5047363,essv5129536,essv5160614,essv5003172,essv5131787,essv5103432,essv5076940,essv5077319,essv5103475,essv5098444,essv5120626,essv5114485,essv5133816,essv5129478,essv5035050,essv5032205,essv5011030,essv5074111,essv5127549,essv5005335,essv5018313,essv5080286,essv5042507,essv5105657,essv5032493,essv5146687,essv5117194,essv5118310,essv5083705,essv5040452,essv5106898,essv5089059,essv5048722,essv5028770,essv5149962,essv5090089,essv5044715,essv5022678,essv5045321,essv5007998,essv5104999,essv5131833,essv5104644,essv5102596,essv5100167,essv5082253,essv5159362,essv5008866,essv5059245,essv5020061,essv5089443,essv5061533,essv5036523,essv5036585,essv5037489,essv5033989,essv5084253,essv5007212,essv5023431,essv5086860,essv5151956,essv5089321,essv5151666,essv5090686,essv5122394,essv5022579,essv5011883,essv5123841,essv5086385,essv5066497,essv5053114,essv5159121,essv5016783,essv5146685,essv5123615,essv5044151,essv5113256,essv5047810,essv5155670,essv5021634,essv5032111,essv5110739,essv5121268,essv5062429,essv5020246,essv5024927,essv5101601,essv5037508,essv5097777,essv5111323,essv5126971,essv5072774,essv5033901,essv5083057,essv5018530,essv5122428,essv5081825,essv5140259,essv5140743,essv5043469,essv5092513,essv5034538,essv5149665,essv5021131,essv5132923,essv5154983,essv5066686,essv5025915,essv5080631,essv5052594,essv5062024,essv5121566,essv5059374,essv5034109,essv5114656,essv5046247,essv5138386,essv5151342,essv5057596,essv5019878,essv5006590,essv5063253,essv5099085,essv5130141,essv5137765,essv5017007,essv5033518,essv5040717,essv5039415,essv5146998,essv5155501,essv5011316,essv5052480,essv5092332,essv5108485,essv5154759,essv5069999,essv5057076,essv5062145,essv5104698,essv5082282,essv5145852,essv5008053,essv5034442,essv5039439,essv5045840,essv5106922,essv5059631,essv5032466,essv5137452,essv5135650,essv5015121,essv5129646,essv5040788,essv5067596,essv5053832,essv5029460,essv5096834,essv5018756,essv5029201,essv5157793,essv5118598,essv5047982,essv5108813,essv5017336,essv5100749,essv5103841,essv5113336,essv5094400,essv5086782,essv5016206,essv5003122,essv5108211,essv5022547,essv5138984,essv5038708,essv5101899,essv5020464,essv5148588,essv5043648,essv5081053,essv5091720,essv5109433,essv5073559,essv5007846,essv5080682,essv5006524,essv5048559,essv5149967,essv5144583,essv5146491,essv5023478,essv5003746,essv5143016,essv5067331,essv5124114,essv5117763,essv5034261,essv5146665,essv5088534,essv5077037,essv5023635,essv5038908,essv5027834,essv5078358,essv5141699,essv5048688,essv5154715,essv5041506,essv5019185,essv5040836,essv5083204,essv5152046,essv5116774,essv5079836,essv5151209,essv5146799,essv5051119,essv5056481,essv5013887,essv5139885,essv5053332,essv5054414,essv5068158,essv5006377,essv5032515,essv5116251,essv5093743,essv5014004,essv5149950,essv5061253,essv5049785,essv5044110,essv5120964,essv5026291,essv5133728,essv5086758,essv5064284,essv5030419,essv5058453,essv5021191,essv5019656,essv5065528,essv5146157,essv5015441,essv5085451,essv5076524,essv5139235,essv5132687,essv5159585,essv5009485,essv5146019,essv5081745,essv5090461,essv5055249,essv5125878,essv5118208,essv5093640,essv5040023,essv5107149,essv5125680,essv5137388,essv5095550,essv5154203,essv5135351,essv5004689,essv5008492,essv5092668,essv5068066,essv5150574,essv5043971,essv5146335,essv5143051,essv5050992,essv5160842,essv5088952,essv5094053,essv5112989,essv5055584,essv5016837,essv5111483,essv5042129,essv5077434,essv5042066,essv5132288,essv5065287,essv5062108,essv5060251,essv5030725,essv5136666,essv5131408,essv5046875,essv5141443,essv5054374,essv5024571,essv5116658,essv5052332,essv5033364,essv5054632,essv5129775,essv5122407,essv5069600,essv5007953,essv5048986,essv5160988,essv5044529,essv5082280,essv5111694,essv5098986,essv5078979,essv5131948,essv5138405,essv5037620,essv5090836,essv5073561,essv5047325,essv5112650,essv5116686,essv5072181,essv5029375,essv5033958,essv5011365,essv5061223,essv5150767,essv5062146,essv5068346,essv5045176,essv5125033,essv5124459,essv5073400,essv5024896,essv5041079,essv5071206,essv5069683,essv5053962,essv5074946,essv5116480,essv5157159,essv5103159,essv5154717,essv5145248,essv5047400,essv5047787,essv5087384,essv5148890,essv5044665,essv5119796,essv5103170,essv5154351,essv5035569,essv5088067,essv5052258,essv5117727,essv5122212,essv5160120,essv5044243,essv5069505,essv5040727,essv5020597,essv5012487,essv5045195,essv5019139,essv5144028,essv5043270,essv5089302,essv5035952,essv5110069,essv5131224,essv5095512,essv5156228,essv5112270,essv5042623,essv5065072,essv5123794 M 1184 0 561 "" NA06984,NA06985,NA06986,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07045,NA07055,NA07056,NA07345,NA07346,NA07348,NA07349,NA07357,NA07435,NA10830,NA10836,NA10837,NA10838,NA10839,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10864,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11918,NA11919,NA11930,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12146,NA12154,NA12248,NA12272,NA12273,NA12275,NA12282,NA12287,NA12336,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12750,NA12751,NA12752,NA12760,NA12761,NA12766,NA12767,NA12775,NA12777,NA12778,NA12801,NA12812,NA12813,NA12814,NA12815,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12843,NA12864,NA12865,NA12873,NA12874,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17967,NA17969,NA17998,NA18101,NA18117,NA18128,NA18138,NA18140,NA18141,NA18147,NA18153,NA18156,NA18485,NA18488,NA18489,NA18499,NA18508,NA18509,NA18510,NA18511,NA18519,NA18550,NA18572,NA18579,NA18595,NA18609,NA18611,NA18622,NA18624,NA18628,NA18642,NA18704,NA18855,NA18861,NA18868,NA18869,NA18870,NA18909,NA18911,NA18912,NA18914,NA18916,NA18923,NA18933,NA18934,NA18965,NA18977,NA18995,NA18999,NA19007,NA19028,NA19031,NA19035,NA19036,NA19041,NA19044,NA19059,NA19077,NA19079,NA19093,NA19095,NA19099,NA19107,NA19114,NA19122,NA19123,NA19128,NA19131,NA19137,NA19138,NA19139,NA19149,NA19153,NA19154,NA19159,NA19160,NA19161,NA19176,NA19179,NA19180,NA19200,NA19201,NA19202,NA19204,NA19236,NA19237,NA19239,NA19247,NA19249,NA19309,NA19310,NA19311,NA19315,NA19316,NA19319,NA19321,NA19324,NA19327,NA19373,NA19374,NA19379,NA19380,NA19384,NA19385,NA19390,NA19399,NA19403,NA19428,NA19429,NA19435,NA19439,NA19440,NA19445,NA19448,NA19449,NA19451,NA19452,NA19463,NA19468,NA19469,NA19470,NA19472,NA19625,NA19649,NA19650,NA19651,NA19652,NA19654,NA19656,NA19657,NA19659,NA19661,NA19663,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19700,NA19701,NA19702,NA19708,NA19713,NA19716,NA19718,NA19720,NA19721,NA19722,NA19725,NA19726,NA19727,NA19747,NA19748,NA19749,NA19751,NA19759,NA19760,NA19762,NA19763,NA19771,NA19772,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19789,NA19790,NA19794,NA19834,NA19836,NA19900,NA19902,NA19909,NA19914,NA19919,NA19921,NA19985,NA20129,NA20277,NA20281,NA20287,NA20292,NA20295,NA20300,NA20301,NA20334,NA20335,NA20336,NA20337,NA20342,NA20344,NA20345,NA20348,NA20349,NA20350,NA20359,NA20363,NA20502,NA20504,NA20505,NA20506,NA20509,NA20510,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20528,NA20530,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20542,NA20543,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20758,NA20759,NA20761,NA20765,NA20766,NA20768,NA20769,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20787,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20805,NA20806,NA20807,NA20809,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20845,NA20846,NA20847,NA20852,NA20854,NA20861,NA20866,NA20869,NA20870,NA20872,NA20876,NA20877,NA20881,NA20884,NA20885,NA20887,NA20895,NA20897,NA20899,NA20900,NA20902,NA20904,NA20907,NA21088,NA21092,NA21097,NA21098,NA21099,NA21100,NA21102,NA21104,NA21105,NA21106,NA21111,NA21112,NA21116,NA21117,NA21141,NA21295,NA21297,NA21300,NA21301,NA21302,NA21307,NA21308,NA21311,NA21312,NA21313,NA21314,NA21317,NA21352,NA21353,NA21356,NA21359,NA21360,NA21361,NA21363,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21399,NA21401,NA21402,NA21404,NA21405,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21436,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21457,NA21473,NA21475,NA21477,NA21478,NA21485,NA21486,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21512,NA21513,NA21514,NA21517,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21615,NA21619,NA21631,NA21634,NA21635,NA21636,NA21648,NA21650,NA21682,NA21685,NA21686,NA21689,NA21693,NA21717,NA21722,NA21738,NA21739,NA21741,NA21768,NA21776,NA21826 nsv514709 13 71376256 71377728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628188 S 1414 0 1 "" esv274499 13 71392782 71393079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580161,essv2580498,essv2580643,essv2579370,essv2579476 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv26244 13 71420656 71423125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14976 S 451 0 2 "" NA18508,NA18909 esv2434348 13 71517808 71519259 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234191 S 1 0 1 "" NA18507 esv2553160 13 71525381 71526778 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346711 S 1 0 1 "" NA18507 nsv1082 13 71619018 71663443 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4631 S 9 0 1 "" NA19129 nsv900549 13 71696615 71720771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536930 S 6533 0 1 "" MS13025 nsv1083 13 71700235 71772953 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5481,nssv6564,nssv4078 M 9 0 3 "" NA12156,NA12878,NA19129 nsv436170 13 71703736 71712353 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466743 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2161968 13 71705455 71710544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705468 S 1 0 1 "" NA18507 esv23050 13 71705611 71710584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11109 S 451 0 8 "" NA11894,NA12749,NA12878,NA18505,NA18523,NA18907,NA18916,NA19108 nsv498818 13 71705623 71710360 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585679 S 9 0 1 "" esv2457907 13 71706999 71711720 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185641 S 1 0 1 "" NA18507 nsv514710 13 71708264 71709048 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628189 S 1414 0 1 "" nsv517121 13 71708337 71710136 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666967,nssv680373,nssv657437,nssv653817,nssv687578,nssv692167,nssv672916,nssv679945,nssv655965,nssv655825,nssv671963,nssv670385,nssv687863,nssv667464,nssv665286,nssv667213,nssv669924,nssv661925,nssv686862,nssv671703,nssv678505,nssv659572,nssv657557,nssv676211,nssv681189,nssv687473,nssv678238,nssv683883,nssv671105,nssv654469,nssv687790,nssv689235,nssv674142,nssv693348,nssv689914,nssv692241,nssv681686,nssv669681,nssv674082,nssv680614,nssv677524,nssv660242,nssv685290,nssv673529,nssv666414,nssv670308,nssv652456,nssv688572,nssv681421,nssv668898,nssv666588,nssv655501,nssv683125,nssv692777,nssv663318,nssv662756,nssv659011,nssv660329,nssv672730,nssv663848,nssv666389,nssv674434,nssv690177,nssv654900,nssv657182,nssv680551,nssv692534,nssv668613,nssv690626,nssv688715,nssv661875,nssv657070,nssv669298,nssv663147,nssv677669,nssv669336,nssv675724,nssv663619,nssv690830,nssv654034,nssv676049,nssv670343,nssv660667,nssv663237,nssv655990,nssv654223,nssv664392,nssv668448,nssv655444,nssv671225,nssv687288,nssv685578,nssv675125,nssv686349,nssv674716,nssv690066,nssv686132,nssv684670,nssv666016,nssv668008,nssv659191,nssv686200,nssv677402,nssv659606,nssv679166 M 2026 0 105 "" nsv528579 13 71708337 71727634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705198 S 2026 0 1 "" nsv510614 13 71734774 71759268 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618904,nssv620065,nssv617409 M 4 0 3 "" CHM,NA10860,NA15510 esv1007993 13 71735408 71746230 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564890 S 3 0 1 "" HuRef nsv511509 13 71736310 71745639 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626128 S 1 0 1 "" 1 nsv826704 13 71737425 71744901 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433153,nssv1439242,nssv1438415,nssv1430115 M 31 1 3 "" AK14,NA18951,NA18972,NA18973 nsv435645 13 71739535 71745246 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466744 S 2 0 1 "" NA15510 nsv819287 13 71740652 71744933 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419622 S 2 1 0 "" AK1 nsv512328 13 71740919 71747160 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624909 S 1 0 1 "" 1 dgv336n67 13 71743585 71744901 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826706,nsv826705 M 31 25 0 "" AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18997,NA18999 esv1003909 13 71743585 71744901 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586932 S 3 1 0 "" HuRef nsv821443 13 71743585 71744901 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421051 S 1 0 1 "" NA10851 esv22175 13 71743783 71744892 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19267 S 451 27 0 "" NA06985,NA11894,NA11995,NA12006,NA12044,NA12156,NA12287,NA12489,NA12749,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 esv274365 13 71749407 71749492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581585 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv259784 13 71841327 71842085 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399802 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19129 esv1998572 13 71854517 71855223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620541 S 1 0 1 "" NA18507 esv4536 13 71854639 71855091 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26977 S 1 0 1 Single Asian sample YH "" YH esv6806 13 71854678 71855048 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29247 S 1 0 1 "" SJK nsv64819 13 71854708 71855019 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83397 M 24 "" esv1024302 13 71854719 71855027 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916443 S 2 0 1 "" HuRef nsv900550 13 72022455 72065834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597872 S 6533 0 1 MIR548I4 IS41113 nsv1084 13 72092816 72122508 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5482 S 9 1 0 MIR548I4 NA19129 nsv826707 13 72197567 72198383 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433950,nssv1434677 M 31 0 2 MZT1 NA18526,NA18570 esv2626867 13 72240893 72242269 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204481 S 1 0 1 DIS3 NA18507 nsv1085 13 72274253 72305016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6565 S 9 1 0 PIBF1 NA12156 nsv900551 13 72343299 72496866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569283 S 6533 0 1 PIBF1 IS31554 nsv517408 13 72457983 72501694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681992,nssv683640,nssv695651,nssv675159,nssv651933 M 2026 0 5 PIBF1 nsv820122 13 72529868 72534099 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419617 S 2 1 0 KLF5 AK1 esv22464 13 72530683 72532040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10813 S 451 0 1 KLF5 NA19257 nsv521789 13 72542196 72543997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694557 S 2026 0 1 KLF5 esv274461 13 72546500 72546640 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579251,essv2579503 M 7 2 0 Samples from several populations that are part of the HapMap project. KLF5 NA19239,NA19240 nsv64411 13 72580554 72580623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82989 M 24 "" esv1105055 13 72592382 72592382 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610651 S 2 1 0 "" HuRef nsv64504 13 72602772 72604237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83082 M 24 "" esv9195 13 72619863 72622661 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31636 S 1 0 1 "" SJK dgv337n67 13 72620257 72622469 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826708,nsv826710,nsv826711,nsv826712 M 31 0 8 "" AK6,NA18564,NA18947,NA18949,NA18951,NA18968,NA18969,NA18973 esv2605501 13 72658500 72659327 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257813 S 1 1 0 "" NA18507 dgv572e1 13 72712442 72713960 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1026,essv14230 M 271 0 0 "" NA18913 nsv64349 13 72715918 72717342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82927 M 24 "" esv2383822 13 72720155 72720585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884581 S 1 0 1 "" NA18507 esv270856 13 72723668 72723997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510638,essv2506014,essv2513347,essv2504718 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18523,NA18907,NA19099 dgv1689n71 13 72775401 72834165 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900552,nsv900554,nsv900553 M 6533 0 4 "" IS32891,IS35028,MS10203,MS10544 nsv900555 13 72776918 72854007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601062 S 6533 0 1 "" IS41964 esv270197 13 72862649 72862969 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512439,essv2510334,essv2500428,essv2513001,essv2497765,essv2504502,essv2511308,essv2512664,essv2510072,essv2496040,essv2505439 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12414,NA18537,NA18547,NA18555,NA18563,NA18570,NA18577,NA18593,NA18603,NA18952 nsv900556 13 72899258 72940622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571088 S 6533 0 1 "" IS32602 dgv46n17 13 72917375 72923430 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437168,nsv437793 M 60 0 2 "" NA10846,NA19240 esv272887 13 72956437 72956786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580932 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268633 13 72956446 72956816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494619,essv2497210,essv2499896,essv2504564,essv2500686,essv2510040,essv2496045,essv2501557,essv2498435,essv2505954,essv2511627,essv2504913,essv2511111,essv2502472,essv2509405,essv2505669,essv2501752,essv2502211 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA18550,NA18552,NA18562,NA18563,NA18571,NA18593,NA18603,NA18608,NA18858,NA18861,NA18940,NA18942,NA18944,NA18948,NA18953,NA19005,NA19239,NA19257 nsv510615 13 72961459 73006739 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620066 S 4 0 1 "" NA15510 esv2578701 13 72972432 72974022 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341855 S 1 0 1 "" NA18507 nsv512329 13 72972672 72973795 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624911 S 1 0 1 "" 1 esv2269946 13 72972727 72973435 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666281 S 1 0 1 "" NA18507 nsv64536 13 72972923 72973250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83114 M 24 "" esv8023 13 72972924 72973244 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30464 S 1 0 1 "" SJK esv259754 13 73182590 73182960 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400891,essv2395802,essv2399255,essv2398442,essv2398240,essv2394839,essv2394508 M 144 0 0 Samples from several populations that are part of the HapMap project. KLF12 NA11993,NA12004,NA18508,NA18871,NA18909,NA19114,NA19257 nsv1086 13 73187939 73219535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5483 S 9 1 0 KLF12 NA19129 nsv900557 13 73189196 73232197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596758 S 6533 0 1 KLF12 IS40627 esv2248184 13 73281455 73281884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536188 S 1 0 1 KLF12 NA18507 esv1702957 13 73429193 73429243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926886 S 2 0 1 KLF12 HuRef esv269053 13 73511185 73511270 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517518,essv2517914 M 157 2 0 Samples from several populations that are part of the HapMap project. KLF12 NA11918,NA12872 esv34103 13 73571925 73775175 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 KLF12 esv2475756 13 73584362 73584527 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281951 S 1 0 1 KLF12 NA18507 esv22953 13 73606585 73607925 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17705 S 451 0 1 "" NA12156 nsv521444 13 73611440 75151355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698055 S 2026 1 0 COMMD6,CTAGE11P,LINC00347,LMO7,TBC1D4,UCHL3 nsv510616 13 73664036 73770367 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618905 S 4 0 1 "" NA10860 nsv507710 13 73815178 73821178 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620544 S 4 1 0 "" NA15510 esv2168751 13 73828718 73829121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664219 S 1 0 1 "" NA18507 dgv113n21 13 73848534 73881155 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527787,nsv520870 M 2026 0 2 "" nsv826713 13 73850249 73851065 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436986 S 31 0 1 "" NA18542 esv23891 13 73852891 73860909 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17366 S 451 1 0 "" NA12878 nsv507711 13 73876150 73882150 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623142,nssv617865,nssv619111 M 4 3 0 "" CHM,NA10860,NA18994 esv1000336 13 73891424 73891499 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582535 S 3 0 1 "" HuRef esv1139570 13 73891426 73891502 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863902 S 2 0 1 "" HuRef esv2612004 13 73998626 74000084 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164520 S 1 0 1 "" NA18507 dgv1690n71 13 74023442 74069075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900558,nsv900559 M 6533 0 5 LINC00347 IS31570,IS34289,IS34473,IS35605,IS39832 dgv1691n71 13 74095785 74209054 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900561,nsv900560 M 6533 0 2 "" IS41964,MS21397 dgv573e1 13 74102052 74275589 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20170,esv450 M 271 0 0 "" NA11832 nsv1087 13 74117736 74119368 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9997 S 9 1 0 "" NA18956 nsv523922 13 74136098 74136213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699765 S 2026 0 1 "" nsv519166 13 74179700 74194810 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696649 S 2026 1 0 "" nsv522783 13 74192936 74194810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698426 S 2026 0 1 "" esv26965 13 74261252 74289486 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15337 S 451 1 0 "" NA12878 esv1674544 13 74459959 74460305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308505 S 2 0 1 "" HuRef nsv525356 13 74469343 74480873 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701475 S 2026 0 1 "" esv3422 13 74523120 74523344 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25863 S 1 0 1 Single Asian sample YH "" YH nsv64034 13 74523201 74523278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82612 M 24 "" dgv338n67 13 74812212 74813283 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826715,nsv826716,nsv826717,nsv826714,nsv826718,nsv826719 M 31 0 7 TBC1D4 AK12,AK2,AK6,NA18537,NA18542,NA18582,NA18951 esv2476633 13 74962674 74964025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304675 S 1 0 1 "" NA18507 nsv900562 13 74970744 75074681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579868 S 6533 0 1 COMMD6,UCHL3 IS35181 dgv1692n71 13 74991936 75067348 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900563,nsv900564,nsv900565 M 6533 0 3 COMMD6,UCHL3 IS36787,IS38065,MS22858 esv32759 13 74998122 74998286 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101556,essv98871,essv100856,essv93259,essv99595 M 51 0 5 COMMD6 21603,21606,21656,22170,22217 nsv1089 13 75003040 75007929 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9497,nssv1151 M 9 2 0 COMMD6 NA18507,NA19240 esv23690 13 75005774 75017574 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14404 S 451 3 0 COMMD6 NA18502,NA18523,NA19240 esv2596575 13 75007160 75009339 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363492 S 1 1 0 COMMD6 NA18507 nsv442676 13 75007535 75015769 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 COMMD6 nsv514711 13 75009088 75013424 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628190 S 1414 1 0 COMMD6 esv2421984 13 75009281 75017507 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5139955,essv5147653,essv5098302,essv5059178,essv5085141,essv5140685,essv5089150,essv5128927,essv5062459,essv5118988,essv5069813,essv5019817,essv5143699,essv5006049,essv5012113,essv5069686,essv5100683,essv5019802,essv5013090,essv5021585,essv5030842,essv5015633,essv5018932,essv5021865,essv5006549,essv5132019,essv5069956,essv5025226,essv5127546,essv5137064,essv5041246,essv5158464,essv5126296,essv5016934,essv5047282,essv5008818,essv5105789,essv5076356,essv5030704,essv5135524,essv5151501,essv5104857,essv5056714,essv5111317,essv5038652,essv5057317,essv5071424,essv5086991,essv5010115,essv5091376,essv5133501,essv5024666,essv5115347,essv5161158,essv5153290,essv5136678,essv5012632,essv5002914,essv5072457,essv5012616,essv5119803,essv5135943,essv5106089,essv5070521,essv5140708,essv5042566,essv5113320,essv5073012,essv5131779,essv5067310,essv5110427,essv5018263,essv5141424,essv5151183,essv5137844,essv5059529,essv5075675,essv5068072,essv5156608,essv5135815,essv5042156,essv5072603 M 1184 82 0 COMMD6 NA18488,NA18500,NA18503,NA18504,NA18506,NA18507,NA18515,NA18516,NA18871,NA18872,NA18913,NA18914,NA18917,NA18933,NA19094,NA19102,NA19103,NA19113,NA19130,NA19146,NA19148,NA19153,NA19160,NA19185,NA19189,NA19192,NA19197,NA19199,NA19203,NA19206,NA19208,NA19209,NA19214,NA19215,NA19235,NA19238,NA19239,NA19308,NA19321,NA19327,NA19346,NA19376,NA19391,NA19393,NA19396,NA19397,NA19446,NA19449,NA19457,NA19466,NA19468,NA19703,NA19705,NA19773,NA19775,NA19828,NA19915,NA19919,NA20281,NA20288,NA20317,NA20319,NA20341,NA20356,NA20357,NA20358,NA21308,NA21309,NA21317,NA21344,NA21436,NA21451,NA21476,NA21486,NA21528,NA21580,NA21587,NA21617,NA21619,NA21716,NA21776,NA21825 nsv525594 13 75009281 75017507 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701736 S 2026 1 0 COMMD6 nsv818980 13 75009281 75017507 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418505 S 112 1 0 COMMD6 NA19192 nsv1090 13 75014378 75037955 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1152 S 9 1 0 UCHL3 NA19240 dgv1693n71 13 75021679 75057105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900566,nsv900568,nsv900567 M 6533 0 29 UCHL3 IS30532,IS30667,IS30899,IS31046,IS31054,IS31070,IS31179,IS31335,IS31554,IS31729,IS32015,IS32615,IS34962,IS35236,IS35271,IS35742,IS35771,IS36527,IS36981,IS37226,IS38183,IS38263,IS39900,IS41068,MS12266,MS17114,MS20872,MS20947,MS25751 dgv1694n71 13 75021679 75074681 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900570,nsv900569,nsv900576 M 6533 0 5 UCHL3 IS30539,IS31228,IS33196,IS34896,MS10802 dgv1695n71 13 75021679 75105566 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900571,nsv900577 M 6533 0 2 LMO7,UCHL3 MS22104,SP52723 dgv1696n71 13 75028762 75057105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900574,nsv900572,nsv900575,nsv900573 M 6533 0 4 UCHL3 IS30490,IS33580,MS18847,SP54030 nsv900578 13 75034977 75065434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530114 S 6533 0 1 UCHL3 MS10203 esv2751152 13 75042200 75186419 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982322,essv6982321 M 771 0 1 LMO7,UCHL3 BEC_416 esv259826 13 75053301 75054323 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398783,essv2395273,essv2399112,essv2395384,essv2396709 M 144 0 0 Samples from several populations that are part of the HapMap project. UCHL3 NA07347,NA11918,NA11920,NA12749,NA12750 nsv819632 13 75095384 75095972 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419014 S 2 0 1 LMO7 AK1 esv22314 13 75107700 75109119 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13276 S 451 0 2 LMO7 NA12156,NA12749 nsv900579 13 75142057 75205982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570655 S 6533 0 1 LMO7 IS32312 esv2083461 13 75173070 75173521 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832765 S 1 0 1 LMO7 NA18507 esv272630 13 75177808 75183962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580875 S 7 1 0 Samples from several populations that are part of the HapMap project. LMO7 NA19238 esv269215 13 75178020 75178305 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511596,essv2503980,essv2495078,essv2499556 M 157 4 0 Samples from several populations that are part of the HapMap project. LMO7 NA07037,NA07051,NA07357,NA18940 nsv1091 13 75180393 75225907 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6566 S 9 0 1 LMO7 NA12156 nsv832646 13 75198429 75381103 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450358 S 95 1 0 LMO7 dgv574e1 13 75219611 75440004 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv55,essv790,essv18618 M 271 0 0 LMO7 NA12234,NA18956 nsv832649 13 75322873 75555892 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450359 S 95 0 1 LMO7 nsv64510 13 75413584 75413584 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83088 M 24 "" nsv826721 13 75487454 75490036 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430116 S 31 0 1 "" AK14 esv2483877 13 75506303 75511421 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343326 S 1 0 1 "" NA18507 nsv471735 13 75506546 75510873 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646016 M 0.021 95 "" esv2036920 13 75506676 75510916 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638402 S 1 0 1 "" NA18507 nsv9089 13 75506694 75509898 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21050 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 esv26880 13 75507092 75510718 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13831 S 451 0 1 "" NA18909 nsv818981 13 75508128 75510358 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417925 S 112 0 1 "" NA18853 esv2421663 13 75508128 75510756 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027746,essv5159812,essv5002875,essv5060180,essv5055878,essv5023126,essv5051808,essv5121489,essv5069948,essv5149703,essv5107196,essv5082874,essv5043662,essv5009107,essv5017842,essv5031120,essv5099533 M 1184 0 17 "" NA18507,NA18853,NA18909,NA18912,NA18914,NA18924,NA18925,NA19113,NA19115,NA19319,NA19394,NA19430,NA19431,NA20287,NA20288,NA20295,NA21417 nsv516991 13 75508128 75532902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677423,nssv674407,nssv666893,nssv653594,nssv677503,nssv683944,nssv686178,nssv704929,nssv673200,nssv657159,nssv680260,nssv675160,nssv690910,nssv677233,nssv658062,nssv653569,nssv652764,nssv677525,nssv657783 M 2026 0 19 "" nsv455988 13 75508562 75560924 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533424 S 1557 0 1 "" 1780854449_A nsv442320 13 75509750 75510848 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv4145 13 75537221 75537724 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26586 S 1 0 1 Single Asian sample YH "" YH esv5837 13 75537290 75537620 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28278 S 1 0 1 "" SJK nsv900580 13 75563409 75633401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592755 S 6533 1 0 "" IS39248 esv268369 13 75586263 75586566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510682,essv2500161,essv2507464,essv2495493,essv2504891,essv2503699 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18573,NA18638,NA18916,NA18942,NA18960 esv1006197 13 75590537 75594028 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564641 S 3 0 1 "" HuRef esv267444 13 75606954 75607187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503199,essv2495399,essv2503114,essv2512320,essv2497677 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12287,NA18943,NA18949,NA19147 nsv520272 13 75798144 75801623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697318 S 2026 0 1 "" esv2521465 13 75807059 75808493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379060 S 1 0 1 "" NA18507 nsv900581 13 75854526 75956839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526009 S 6533 1 0 "" SP56936 esv1948607 13 75952019 75952469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660323 S 1 0 1 "" NA18507 esv1757603 13 75952763 75952821 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146831 S 2 0 1 "" HuRef nsv515972 13 75999906 76009637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689304,nssv655804,nssv686550,nssv668773,nssv655539,nssv677234,nssv666433,nssv685810,nssv687474,nssv665544 M 2026 0 10 "" nsv471155 13 76021533 76081466 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545433 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01398 nsv455989 13 76021534 76084706 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533425 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01398 nsv528630 13 76116574 76130697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705260 S 2026 0 1 "" nsv832650 13 76123655 76293095 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450360 S 95 0 1 "" nsv832651 13 76260854 76446840 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450362,nssv1450363 M 95 2 0 BTF3P11,KCTD12 esv259641 13 76261125 76261506 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393945,essv2394012,essv2394368 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv259870 13 76261133 76261525 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396773,essv2400212,essv2398600,essv2395762,essv2396237,essv2397597,essv2400271,essv2396811,essv2400783,essv2396700,essv2398283,essv2399204,essv2401062,essv2397808,essv2396575,essv2396498,essv2400726,essv2394920,essv2400939,essv2400346,essv2396305,essv2398541,essv2395510,essv2400842,essv2397407,essv2399557,essv2395047,essv2400403,essv2398998,essv2399138,essv2396860,essv2399917,essv2398251,essv2400010,essv2396190,essv2397495,essv2395438,essv2397125,essv2395128,essv2397771,essv2394538,essv2400387,essv2395831,essv2397015,essv2397382,essv2398020,essv2397064,essv2400455 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10847,NA12004,NA12006,NA12044,NA12154,NA12155,NA12717,NA12750,NA12763,NA12776,NA12891,NA18505,NA18507,NA18517,NA18542,NA18545,NA18547,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18592,NA18605,NA18609,NA18638,NA18856,NA18909,NA18940,NA18944,NA18947,NA18948,NA18951,NA18953,NA18956,NA18959,NA18960,NA18961,NA18973,NA18980,NA19147,NA19239,NA19240 esv1009129 13 76261223 76261223 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573989 S 3 1 0 "" HuRef nsv832652 13 76327243 76513643 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450364 S 95 1 0 BTF3P11,CLN5,FBXL3,KCTD12 nsv507712 13 76334862 76340862 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620545,nssv623143,nssv617866,nssv619112 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv24441 13 76357104 76358911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14116 S 451 0 2 KCTD12 NA12156,NA12749 nsv518365 13 76390971 76396700 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694229 S 2026 0 1 "" nsv832653 13 76421035 76587357 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450365 S 95 0 1 CLN5,FBXL3,MYCBP2 nsv1092 13 76431915 76439543 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9139 S 9 0 1 "" NA12156 nsv528367 13 76472984 76473397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704954 S 2026 0 1 CLN5 dgv575e1 13 76523033 76666465 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2497,esv262 M 271 0 0 MYCBP2 NA19003 esv2515250 13 76646475 76647556 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170004 S 1 1 0 MYCBP2 NA18507 esv1226195 13 76647065 76647065 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797700 S 2 1 0 MYCBP2 HuRef nsv528143 13 76747276 76760985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704689 S 2026 0 1 MYCBP2 nsv1093 13 76835652 76879866 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2043 S 9 0 1 "" NA18555 nsv64245 13 76879196 76880744 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82823 M 24 "" esv1538999 13 76902516 76902516 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359348 S 2 1 0 "" HuRef esv272725 13 76953066 76953970 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579169 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270970 13 76953066 76953995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577449,essv2554232,essv2557468,essv2557003,essv2532318,essv2569360,essv2539123,essv2527247,essv2527793,essv2533962,essv2578338,essv2573113,essv2555296,essv2527465,essv2531641,essv2575471,essv2574668,essv2572813,essv2568739,essv2545192,essv2546129,essv2551318 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12287,NA18499,NA18501,NA18505,NA18508,NA18519,NA18522,NA18907,NA18916,NA18940,NA18942,NA18943,NA18952,NA18961,NA19099,NA19138,NA19143,NA19147,NA19172,NA19239,NA19257 esv271758 13 77033069 77033356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496844,essv2494303,essv2493583,essv2509616 M 157 4 0 Samples from several populations that are part of the HapMap project. SCEL NA18498,NA18502,NA18517,NA19129 esv271294 13 77038572 77039506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497346,essv2513004,essv2497124,essv2497832,essv2499851,essv2504594,essv2500696,essv2508475,essv2495922,essv2495183 M 157 10 0 Samples from several populations that are part of the HapMap project. SCEL NA18545,NA18547,NA18552,NA18555,NA18562,NA18563,NA18571,NA18582,NA18961,NA18964 esv27309 13 77057770 77059395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9975 S 451 0 1 SCEL NA19257 esv22418 13 77069280 77069938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21365 S 451 0 1 SCEL NA19225 esv29838 13 77140334 77146648 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16115 S 451 1 0 "" NA12878 esv23084 13 77169647 77170692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21153 S 451 0 2 MIR3665,SLAIN1 NA12156,NA19257 esv1521787 13 77176123 77176123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793837 S 2 1 0 SLAIN1 HuRef esv1172184 13 77176367 77176367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046695 S 2 1 0 SLAIN1 HuRef esv24551 13 77353919 77357670 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15266 S 451 0 4 "" NA18861,NA18907,NA19099,NA19257 esv2446245 13 77354291 77355823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332642 S 1 0 1 "" NA18507 esv2162502 13 77476916 77479164 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822699 S 1 0 1 "" NA18507 esv267666 13 77482646 77482966 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565835,essv2575946,essv2540985,essv2546493,essv2521077,essv2526147,essv2536739,essv2522792,essv2544219,essv2570983,essv2556636,essv2545465,essv2523131,essv2531800,essv2577625,essv2576607,essv2550772,essv2535131,essv2554284,essv2544450,essv2552001,essv2520453,essv2547495,essv2529076,essv2558678,essv2564611,essv2577951,essv2553548,essv2559459,essv2565233,essv2564030,essv2555048,essv2537326,essv2528278,essv2546980,essv2556891,essv2552339,essv2551784,essv2569340,essv2549997,essv2537013,essv2539112,essv2561569,essv2544677,essv2553092,essv2540277,essv2524471,essv2534729,essv2561165,essv2549201,essv2559877,essv2522312,essv2566226,essv2567321,essv2541578,essv2563716,essv2572606,essv2566853,essv2551079,essv2543663,essv2556260,essv2562373,essv2534167,essv2578341,essv2573127,essv2555186,essv2566510,essv2529949,essv2574012,essv2557663,essv2555934,essv2534320,essv2522626,essv2531321,essv2573544,essv2543328,essv2571982,essv2525795,essv2526986,essv2529486,essv2575727,essv2575367,essv2538629,essv2526656,essv2524211,essv2568628,essv2545080,essv2571114,essv2546008,essv2574451,essv2537799,essv2548793,essv2532952,essv2554416,essv2547700,essv2563236,essv2558011 M 157 97 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12872,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18508,NA18511,NA18517,NA18519,NA18523,NA18526,NA18542,NA18552,NA18555,NA18561,NA18562,NA18564,NA18570,NA18571,NA18572,NA18582,NA18592,NA18603,NA18609,NA18853,NA18858,NA18870,NA18871,NA18909,NA18916,NA18940,NA18942,NA18943,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19147,NA19172,NA19238,NA19239,NA19240 esv272445 13 77482649 77482967 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581898,essv2582712,essv2582812,essv2584127,essv2584644,essv2583629 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1549530 13 77482672 77482672 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192732 S 2 1 0 "" HuRef esv2483388 13 77491781 77495665 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167544 S 1 0 1 "" NA18507 esv8169 13 77492120 77492472 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30610 S 1 0 1 "" SJK nsv507713 13 77506967 77512967 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617867 S 4 1 0 "" CHM esv267611 13 77540289 77540374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513812 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv268418 13 77549653 77549984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558224,essv2565683,essv2576126,essv2540949,essv2571615,essv2546594,essv2521254,essv2526136,essv2536579,essv2522732,essv2570933,essv2556719,essv2568187,essv2545279,essv2523112,essv2531689,essv2577216,essv2548397,essv2576840,essv2550673,essv2525477,essv2535138,essv2554092,essv2544441,essv2552264,essv2520542,essv2558344,essv2564670,essv2578111,essv2553515,essv2559688,essv2520018,essv2564293,essv2537186,essv2528592,essv2547001,essv2520929,essv2557104,essv2552420,essv2551776,essv2569271,essv2536890,essv2539109,essv2561546,essv2544685,essv2540594,essv2524418,essv2534713,essv2561071,essv2519505,essv2560034,essv2521959,essv2566174,essv2531176,essv2568011,essv2567382,essv2541876,essv2570286,essv2563629,essv2553337,essv2535739,essv2572354,essv2566797,essv2541972,essv2551190,essv2543433,essv2556284,essv2562449,essv2573236,essv2555385,essv2533571,essv2566355,essv2529888,essv2573954,essv2557653,essv2555987,essv2531324,essv2573484,essv2572021,essv2525631,essv2526759,essv2529557,essv2575464,essv2538517,essv2526699,essv2560669,essv2524177,essv2574926,essv2530245,essv2568803,essv2549720,essv2571189,essv2545754,essv2574175,essv2537907,essv2549041,essv2533054,essv2554578,essv2563404 M 157 99 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12750,NA12751,NA12761,NA12763,NA12776,NA12815,NA12828,NA12878,NA12891,NA12892,NA18498,NA18501,NA18502,NA18504,NA18508,NA18517,NA18519,NA18523,NA18526,NA18552,NA18555,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18870,NA18871,NA18909,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18953,NA18956,NA18961,NA18964,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19225,NA19238,NA19239,NA19240 esv274010 13 77549653 77549984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582243,essv2582668,essv2582925,essv2584152,essv2584581,essv2583889 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1532663 13 77549688 77549688 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195442 S 2 1 0 "" HuRef nsv507714 13 77572136 77578136 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620546,nssv617868,nssv623144 M 4 3 0 "" CHM,NA15510,NA18994 nsv1094 13 77652103 77697848 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6568 S 9 0 1 "" NA12156 esv29902 13 77662996 77665835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21107 S 451 0 3 "" NA12239,NA18858,NA19114 nsv516992 13 77665412 77665502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692027,nssv688120,nssv672280,nssv670688,nssv663040,nssv656585,nssv656089,nssv654035,nssv666415,nssv689143,nssv686488,nssv657199,nssv670233,nssv690392,nssv656671,nssv655805,nssv655855,nssv663468,nssv676255,nssv671016,nssv683706,nssv686896,nssv661711,nssv653570,nssv668877,nssv671290,nssv671910,nssv652711,nssv681190,nssv655381,nssv666940,nssv660621,nssv659523 M 2026 0 33 "" nsv515727 13 77704693 77705440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668266,nssv692091,nssv670933,nssv680342,nssv658279,nssv693459,nssv688833,nssv663184,nssv680320,nssv682170,nssv671567,nssv672440,nssv664591,nssv668245,nssv690886,nssv667839,nssv684968,nssv689416,nssv671186,nssv691606,nssv659868,nssv692168 M 2026 0 22 "" nsv525629 13 77704693 77706814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701782 S 2026 0 1 "" esv996259 13 77712258 77712861 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565121 S 3 1 0 "" HuRef nsv1095 13 77745635 77779835 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1154 S 9 1 0 "" NA19240 nsv832654 13 77747248 77994996 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450366 S 95 1 0 "" nsv826722 13 77754470 77755351 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423722 S 31 0 1 "" NA18999 dgv233n27 13 77767282 77813845 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455992,nsv455993,nsv455991 M 1557 3 0 "" HGDP01191,HGDP01309,HGDP01312 nsv1096 13 77791250 77826200 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4079 S 9 1 0 "" NA12878 esv8901 13 77895580 77896734 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31342 S 1 0 1 "" SJK nsv64597 13 77895642 77896751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83175 M 24 "" nsv510351 13 78002399 78008399 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621404,nssv618389,nssv624147,nssv622236 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 dgv114n21 13 78012662 78038844 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526462,nsv528903 M 2026 0 2 "" dgv339n67 13 78033065 78123894 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826723,nsv826724 M 31 2 0 POU4F1,RNF219 NA18968,NA18973 dgv234n27 13 78038844 78114419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455995,nsv455994 M 1557 0 2 POU4F1,RNF219 1780862306_A,1780862444_A nsv1097 13 78048721 78081316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2044 S 9 1 0 POU4F1 NA18555 nsv826725 13 78069637 78071313 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427014 S 31 1 0 POU4F1 AK6 nsv826726 13 78070348 78077956 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429693 S 31 1 0 POU4F1 NA18947 esv27337 13 78073031 78075654 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11195,esv20240 M 451 0 2 POU4F1 NA12156,NA19257 nsv900582 13 78082860 78117629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515255 S 6533 0 1 RNF219 SP56143 nsv1098 13 78094254 78127714 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9141 S 9 1 0 RNF219 NA12156 dgv340n67 13 78100855 78106509 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826728,nsv826727 M 31 0 4 RNF219 AK14,NA18570,NA18592,NA18947 esv2421781 13 78101102 78105643 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003004,essv5017248,essv5112125,essv5144517,essv5110300,essv5073649,essv5057065,essv5134484,essv5034413,essv5109728,essv5037230,essv5129023,essv5012536,essv5009667,essv5092962,essv5038817,essv5020558,essv5067495,essv5103625,essv5029376 M 1184 0 20 RNF219 NA17989,NA18117,NA18122,NA18152,NA18156,NA18544,NA18545,NA18570,NA18608,NA18640,NA18641,NA18643,NA18670,NA18674,NA18740,NA18947,NA18948,NA18977,NA19064,NA20534 nsv442321 13 78101102 78105643 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RNF219 nsv514712 13 78101352 78105576 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628191 S 1414 0 1 RNF219 nsv517259 13 78103413 78105589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693349,nssv658471,nssv684542,nssv654149,nssv673293 M 2026 0 5 RNF219 esv1011057 13 78131447 78131447 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567881 S 3 1 0 "" HuRef esv1550766 13 78131468 78131468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884895 S 2 1 0 "" HuRef nsv513390 13 78157711 78157966 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625785 S 1 1 0 "" 1 esv272854 13 78157761 78159661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580550 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269416 13 78157767 78161228 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519223,essv2518725,essv2516569,essv2514302,essv2517585,essv2516248,essv2516886,essv2517238,essv2519031,essv2515217,essv2518948,essv2518339 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12045,NA12814,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141,NA19238,NA19239,NA19240 esv1707600 13 78157794 78157794 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213071 S 2 1 0 "" HuRef esv2504892 13 78169054 78170062 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272935 S 1 1 0 "" NA18507 esv269242 13 78169563 78169905 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514635,essv2516743,essv2519166,essv2517457,essv2517084,essv2514057,essv2518798,essv2514747,essv2515436,essv2515083,essv2516451,essv2515591,essv2517894,essv2515892,essv2514248,essv2517862,essv2516262,essv2516924,essv2517171,essv2519011,essv2513961,essv2515244,essv2518934,essv2518420 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11918,NA11931,NA12043,NA12045,NA12234,NA12249,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv272662 13 78169567 78169901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582052,essv2582455,essv2582773,essv2584135,essv2584630,essv2583601 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1078807 13 78169602 78169602 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018817 S 2 1 0 "" HuRef nsv1100 13 78178069 78211097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9142 S 9 1 0 "" NA12156 nsv64903 13 78178484 78178600 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83481 M 24 "" nsv64675 13 78193095 78201193 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83253 M 24 "" nsv510352 13 78255805 78261805 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622237 S 4 0 1 "" NA10860 dgv23n68 13 78313107 78537840 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832655,nsv832656 M 95 2 0 MIR548A2 nsv900583 13 78336169 78475943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599017 S 6533 0 1 MIR548A2 IS40902 esv8922 13 78375404 78375490 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31363 S 1 1 0 MIR548A2 SJK nsv900584 13 78411048 78475943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555315 S 6533 0 1 MIR548A2 MS21258 esv2601317 13 78558376 78559910 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168541 S 1 0 1 MIR548A2 NA18507 esv2022254 13 78558893 78559603 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926762 S 1 0 1 MIR548A2 NA18507 esv2771 13 78559024 78559453 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25212 S 1 0 1 Single Asian sample YH MIR548A2 YH dgv32n6 13 78559069 78559417 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv64375,nsv64896 M 24 MIR548A2 esv5850 13 78559075 78559410 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28291 S 1 0 1 MIR548A2 SJK esv1350676 13 78559082 78559417 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591115 S 2 0 1 MIR548A2 HuRef esv2364635 13 78588603 78589046 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736907 S 1 0 1 MIR548A2 NA18507 esv1616383 13 78588838 78588838 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097662 S 2 1 0 MIR548A2 HuRef nsv900585 13 78601152 78662931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593084 S 6533 0 1 MIR548A2 IS39354 esv268904 13 78628515 78628613 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496870,essv2506289,essv2495736,essv2502060 M 157 4 0 Samples from several populations that are part of the HapMap project. MIR548A2 NA18498,NA18523,NA18916,NA19257 esv270567 13 78672240 78672553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514091,essv2517202 M 157 2 0 Samples from several populations that are part of the HapMap project. MIR548A2 NA12043,NA18970 nsv523536 13 78718127 78722975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699311 S 2026 0 1 MIR548A2 esv270031 13 78758842 78759133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503809,essv2508274,essv2500638,essv2507609,essv2493025,essv2503750,essv2505615,essv2495774 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA12761,NA18561,NA18571,NA18576,NA18951,NA18960,NA19005 nsv507715 13 78762616 78768616 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620547,nssv617869,nssv623145,nssv619113 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 dgv1697n71 13 78790723 78866468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900587,nsv900586 M 6533 0 2 RBM26 SP50073,SP50649 nsv832657 13 78802979 78997109 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450373,nssv1450371,nssv1450370,nssv1450369 M 95 4 0 NDFIP2,RBM26,RBM26-AS1 esv1133660 13 78845009 78845168 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829519 S 2 0 1 RBM26 HuRef nsv64617 13 78845136 78845287 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83195 M 24 RBM26 nsv64406 13 78864099 78864153 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82984 M 24 RBM26 nsv64677 13 78864341 78864412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83255 M 24 RBM26 nsv523979 13 78877680 79018264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699834 S 2026 0 1 NDFIP2,RBM26,RBM26-AS1 nsv64679 13 78891360 78891428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83257 M 24 RBM26-AS1 esv2229257 13 78979217 78979894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882159 S 1 0 1 NDFIP2 NA18507 esv2651677 13 78979249 78980971 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288821 S 1 0 1 NDFIP2 NA18507 esv8765 13 78979365 78979752 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31206 S 1 0 1 NDFIP2 SJK esv3018 13 78979379 78979981 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25459 S 1 0 1 Single Asian sample YH NDFIP2 YH esv1276458 13 78979408 78979724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317287 S 2 0 1 NDFIP2 HuRef nsv819683 13 79025075 79027341 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419412 S 2 0 1 NDFIP2 AK1 esv270585 13 79097057 79097403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519290,essv2518824,essv2515497,essv2515066,essv2513831,essv2515193,essv2518925,essv2518398 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12045,NA12249,NA12812,NA19143,NA19238,NA19239,NA19240 esv273249 13 79097062 79097398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584043,essv2584526,essv2583752 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv900588 13 79114847 79319341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559800 S 6533 1 0 "" MS24151 nsv900589 13 79148512 79208296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561322 S 6533 1 0 "" MS24932 esv270268 13 79194946 79195031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517287 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv900590 13 79240187 79319341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561323 S 6533 1 0 "" MS24932 nsv7245 13 79261585 79343423 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9294,nssv9293 M 9 0 0 "" NA18517 esv1068644 13 79273376 79273376 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128074 S 2 1 0 "" HuRef dgv18n47 13 79293777 79315244 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499753,nsv499799 M 9 0 0 "" esv24681 13 79352930 79358046 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17425 S 451 0 1 "" NA12004 nsv438256 13 79377405 79401111 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470612,nssv470613 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10856,NA11829 nsv832658 13 79384981 79578222 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450374 S 95 0 1 "" nsv900591 13 79410488 79511205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550230 S 6533 0 1 "" MS18375 nsv900592 13 79410488 79613894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598152 S 6533 0 1 "" IS40902 esv1293273 13 79429859 79430085 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030849 S 2 0 1 "" HuRef nsv64327 13 79429860 79430085 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82905 M 24 "" esv1001493 13 79567342 79581554 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563992 S 3 0 1 "" HuRef nsv900593 13 79568425 79613894 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574862 S 6533 1 0 "" IS33663 nsv900594 13 79571192 79613894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581652,nssv1556755,nssv1553948 M 6533 0 3 "" IS35675,MS20440,MS22146 esv2499735 13 79575690 79577087 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247248 S 1 0 1 "" NA18507 esv2125690 13 79576128 79576823 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906934 S 1 0 1 "" NA18507 esv5392 13 79576247 79576798 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27833 S 1 0 1 Single Asian sample YH "" YH esv28627 13 79579027 79584543 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21197 S 451 0 2 "" NA07037,NA12489 esv1008299 13 79579797 79579857 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576554 S 3 0 1 "" HuRef nsv64975 13 79579798 79579858 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83553 M 24 "" nsv64721 13 79579829 79579882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83299 M 24 "" nsv522015 13 79590812 79599849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694784 S 2026 0 1 "" esv267415 13 79670305 79670390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517384 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 nsv832660 13 79672803 79857995 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450375 S 95 1 0 SPRY2 esv7764 13 79721005 79721082 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30205 S 1 1 0 "" SJK esv1273325 13 79794420 79794420 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765613 S 2 1 0 "" HuRef nsv819288 13 79808475 79808857 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418930 S 2 0 1 SPRY2 AK1 nsv900595 13 79837484 79914814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570623 S 6533 0 1 "" IS32289 esv1499354 13 79841226 79841226 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958098 S 2 1 0 "" HuRef nsv525767 13 79844324 79850613 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701935 S 2026 1 0 "" esv2435131 13 79891881 79892743 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174853 S 1 1 0 "" NA18507 nsv513391 13 79892301 79892670 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625786 S 1 1 0 "" 1 esv2505458 13 80062704 80064257 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311339 S 1 0 1 "" NA18507 nsv832661 13 80132403 80353075 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450376 S 95 1 0 "" nsv900596 13 80158202 80255743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542947 S 6533 0 1 "" MS15973 esv1390279 13 80178239 80178239 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166746 S 2 1 0 "" HuRef esv34171 13 80196167 80392312 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv268376 13 80271709 80272046 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576007,essv2571769,essv2525920,essv2536715,essv2523130,essv2548517,essv2521629,essv2544382,essv2552076,essv2547486,essv2564748,essv2565371,essv2562600,essv2523641,essv2542936,essv2540276,essv2534754,essv2560103,essv2532767,essv2567970,essv2555265,essv2537747,essv2548693,essv2554370,essv2524856 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA07357,NA11830,NA11840,NA11918,NA11920,NA12004,NA12045,NA12144,NA12414,NA12489,NA12717,NA12751,NA12812,NA18507,NA18537,NA18550,NA18552,NA18561,NA18570,NA18576,NA18577,NA18943 esv1154855 13 80271741 80271741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231225 S 2 1 0 "" HuRef esv271809 13 80306687 80306905 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504017 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv507716 13 80339188 80345188 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623146,nssv620548 M 4 2 0 "" NA15510,NA18994 nsv900597 13 80388718 80446528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508846 S 6533 0 1 "" SP54579 nsv455998 13 80414817 80469691 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533433 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00027 esv2563091 13 80420500 80421351 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221688 S 1 1 0 "" NA18507 esv272946 13 80421009 80421324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578988 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269738 13 80421053 80421389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557781,essv2576026,essv2540971,essv2526044,essv2542486,essv2536420,essv2556724,essv2568100,essv2545260,essv2523312,essv2577506,essv2570643,essv2548281,essv2521536,essv2554228,essv2544338,essv2551953,essv2547123,essv2564562,essv2578015,essv2559721,essv2565364,essv2520253,essv2530642,essv2537644,essv2546673,essv2562789,essv2552800,essv2540587,essv2524337,essv2549219,essv2530978,essv2528655,essv2570054,essv2563771,essv2553265,essv2567000,essv2533494,essv2566518,essv2555895,essv2530210,essv2572753,essv2537878,essv2548671,essv2547640,essv2525187 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07347,NA07357,NA10851,NA11830,NA11831,NA11918,NA11919,NA11920,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12287,NA12414,NA12489,NA12717,NA12751,NA12761,NA12776,NA12812,NA12815,NA12873,NA12878,NA12892,NA18507,NA18542,NA18552,NA18555,NA18564,NA18573,NA18579,NA18593,NA18603,NA18605,NA18853,NA18944,NA18948,NA18956,NA19141,NA19143 nsv1101 13 80489764 80519668 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1155 S 9 1 0 "" NA19240 esv268612 13 80510391 80510700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500417,essv2494607,essv2507590,essv2495186 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18550,NA18576,NA18964 nsv900598 13 80521044 80610873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597973 S 6533 0 1 "" IS41113 nsv900599 13 80547913 80655152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567040 S 6533 0 1 "" IS31041 esv24884 13 80578443 80583450 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19205 S 451 0 1 "" NA12044 nsv900600 13 80614269 80949394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570923 S 6533 1 0 "" IS32343 esv2541889 13 80644838 80646409 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351012 S 1 0 1 "" NA18507 esv2244861 13 80645043 80645770 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805596 S 1 0 1 "" NA18507 esv3659 13 80645188 80645661 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26100 S 1 0 1 Single Asian sample YH "" YH esv1008312 13 80645241 80645568 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579217 S 3 0 1 "" HuRef esv1435645 13 80645256 80645584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299166 S 2 0 1 "" HuRef esv8884 13 80645258 80645563 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31325 S 1 0 1 "" SJK nsv1102 13 80694614 80730699 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9498 S 9 0 1 "" NA18507 nsv436171 13 80702843 80713407 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466745 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2488413 13 80703118 80713509 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375863 S 1 0 1 "" NA18507 esv2420619 13 80703615 80713127 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531116 S 1 0 1 "" NA18507 esv2421885 13 80703687 80711098 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091347,essv5071482,essv5071208,essv5152777,essv5075525,essv5123980,essv5115667,essv5074167,essv5130335,essv5016994,essv5045258,essv5023658,essv5138501,essv5055065,essv5142060,essv5059051,essv5109248,essv5130006,essv5148953,essv5153264,essv5038755,essv5084028,essv5121571,essv5014330,essv5119320,essv5014187,essv5121210,essv5046871,essv5060666,essv5077796,essv5157967,essv5101368,essv5069946,essv5073783,essv5017687,essv5143131,essv5125294,essv5051687,essv5009963,essv5157220,essv5145740,essv5026202,essv5009757,essv5068186,essv5105651,essv5146102,essv5113689,essv5154234,essv5153238,essv5049535,essv5020937,essv5120289,essv5039909,essv5050594,essv5030171,essv5139735,essv5112829,essv5161011,essv5119144,essv5085783,essv5020193,essv5152017,essv5049016,essv5039100,essv5043904,essv5068920,essv5125021,essv5129006,essv5059443,essv5073108,essv5041511,essv5023034,essv5146688,essv5124461,essv5067911,essv5150916,essv5122042,essv5041020,essv5099144,essv5154123,essv5014288,essv5126691,essv5027123,essv5014220,essv5106463,essv5148152,essv5021887,essv5047836,essv5059156,essv5017942,essv5082321,essv5131418,essv5096349,essv5063368,essv5036280,essv5013809,essv5017857,essv5101661,essv5019401,essv5072491,essv5123021,essv5103091,essv5081912,essv5044783,essv5139798,essv5133208,essv5159699,essv5063312,essv5105341,essv5158965,essv5087406,essv5014249,essv5068938,essv5117268,essv5117564,essv5079883,essv5086375,essv5076961,essv5104475,essv5117909,essv5010098,essv5066522,essv5118676,essv5160213,essv5116374,essv5083117,essv5074063,essv5105744,essv5133431,essv5067407,essv5089103,essv5066467,essv5081968,essv5082136,essv5051691,essv5073046,essv5049024,essv5086938,essv5022622,essv5022091,essv5129100,essv5094456,essv5102185,essv5033539,essv5137162,essv5010554,essv5062128,essv5076684,essv5040941,essv5160767,essv5159073,essv5151659,essv5128373,essv5122861,essv5118149,essv5092209,essv5093427,essv5103238,essv5028282,essv5134733,essv5110908,essv5124003,essv5106266,essv5123454,essv5146415,essv5149171,essv5148413,essv5130413,essv5083069,essv5018083,essv5087000,essv5138139,essv5159997,essv5022372,essv5158085,essv5038757,essv5044986,essv5078121,essv5115003,essv5138223,essv5060397,essv5049263,essv5113452,essv5040567,essv5074352,essv5085982,essv5010261,essv5055710,essv5007996,essv5014024,essv5107843,essv5106054,essv5012440,essv5061100,essv5147050,essv5160405,essv5154800,essv5128330,essv5007663,essv5074070,essv5028146,essv5011914,essv5081736,essv5120758,essv5016451,essv5024022,essv5060123,essv5083942,essv5118246,essv5050898,essv5115056,essv5074407,essv5027040,essv5095841,essv5073779,essv5156032,essv5142120,essv5067300,essv5046913,essv5138726,essv5149361,essv5081113,essv5063255,essv5102925,essv5102635,essv5040176,essv5143685,essv5022746,essv5096444,essv5102262,essv5071347,essv5082773,essv5101008,essv5135412,essv5147993,essv5144856,essv5106239,essv5060444,essv5104875,essv5115729,essv5151500,essv5035419,essv5092714,essv5086473,essv5139647,essv5017809,essv5076191,essv5137583,essv5075412,essv5063467,essv5075446,essv5159161,essv5120606,essv5081796,essv5084454,essv5018745,essv5100064,essv5075414,essv5008861,essv5024764,essv5064655 M 1184 0 261 "" NA11917,NA18484,NA18485,NA18486,NA18487,NA18488,NA18498,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18515,NA18518,NA18519,NA18853,NA18854,NA18859,NA18860,NA18861,NA18863,NA18867,NA18868,NA18869,NA18871,NA18872,NA18910,NA18911,NA18916,NA18923,NA18930,NA18933,NA18934,NA18935,NA19027,NA19035,NA19036,NA19044,NA19046,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19116,NA19117,NA19121,NA19122,NA19127,NA19129,NA19130,NA19132,NA19137,NA19139,NA19140,NA19141,NA19142,NA19146,NA19148,NA19149,NA19150,NA19151,NA19160,NA19172,NA19174,NA19178,NA19179,NA19180,NA19181,NA19184,NA19185,NA19186,NA19189,NA19190,NA19192,NA19198,NA19204,NA19206,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19310,NA19311,NA19313,NA19315,NA19317,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19350,NA19359,NA19360,NA19372,NA19375,NA19376,NA19379,NA19380,NA19382,NA19383,NA19384,NA19385,NA19393,NA19394,NA19396,NA19397,NA19399,NA19430,NA19431,NA19436,NA19437,NA19439,NA19445,NA19448,NA19449,NA19451,NA19452,NA19457,NA19462,NA19463,NA19466,NA19471,NA19472,NA19625,NA19700,NA19703,NA19704,NA19705,NA19712,NA19713,NA19722,NA19750,NA19751,NA19835,NA19836,NA19904,NA19908,NA19909,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA20277,NA20279,NA20300,NA20302,NA20319,NA20332,NA20333,NA20334,NA20335,NA20340,NA20342,NA20343,NA20364,NA20813,NA20873,NA21101,NA21295,NA21300,NA21301,NA21307,NA21308,NA21309,NA21333,NA21352,NA21353,NA21355,NA21359,NA21360,NA21361,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21402,NA21403,NA21404,NA21408,NA21420,NA21421,NA21424,NA21425,NA21440,NA21441,NA21442,NA21447,NA21455,NA21475,NA21478,NA21479,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21494,NA21513,NA21514,NA21517,NA21519,NA21522,NA21524,NA21525,NA21526,NA21528,NA21529,NA21577,NA21580,NA21582,NA21583,NA21596,NA21597,NA21600,NA21601,NA21616,NA21619,NA21647,NA21650,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21722,NA21723,NA21733,NA21741,NA21784 esv2430941 13 80704039 80713595 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333638 S 1 0 1 "" NA18507 nsv510617 13 80704057 80709671 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622675 S 4 0 1 "" NA18994 esv26928 13 80704177 80712921 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11653 S 451 0 12 "" NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18916,NA19099,NA19129,NA19190,NA19225,NA19240 nsv514713 13 80704240 80711392 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628193 S 1414 0 1 "" esv271997 13 80708154 80708239 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517494,essv2518716,essv2518496,essv2514899,essv2516382,essv2516089,essv2517658,essv2517274,essv2513987,essv2518393,essv2519477 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11918,NA12045,NA12287,NA12812,NA12814,NA12873,NA12878,NA18970,NA19143,NA19240 esv274160 13 80708154 80708239 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581559,essv2581092 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv900601 13 80711098 80798225 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514494 S 6533 1 0 "" SP56005 nsv437794 13 80817203 80824046 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467675 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19154 dgv1698n71 13 80842735 80950581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900602,nsv900603 M 6533 0 4 "" IS31233,IS33533,IS35421,IS41788 dgv1699n71 13 80930398 81024756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900605,nsv900604 M 6533 0 2 "" MS13480,SP57314 nsv900606 13 80950581 82593621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570924 S 6533 1 0 "" IS32343 esv274894 13 80973634 80979151 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585163 S 1250 0 1 "" esv28653 13 80986740 80987199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9956 S 451 0 1 "" NA19129 nsv522104 13 81024756 81029297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694876 S 2026 0 1 "" nsv900607 13 81029297 81077950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550851 S 6533 0 1 "" MS18620 esv21769 13 81045545 81050270 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15349 S 451 1 0 "" NA12239 esv1493513 13 81072498 81072498 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4035423 S 2 1 0 "" HuRef esv271027 13 81093090 81093175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519060 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 dgv115n21 13 81097552 81237360 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525165,nsv522372 M 2026 2 0 "" nsv456000 13 81152473 81177410 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533434 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00845 esv1268811 13 81166311 81166311 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179729 S 2 1 0 "" HuRef nsv900608 13 81167762 81207661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565655 S 6533 0 1 "" IS30490 nsv1103 13 81173913 81218632 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9143 S 9 0 1 "" NA12156 nsv900609 13 81211573 81668705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591076 S 6533 0 1 "" IS38633 nsv456001 13 81218144 81248783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533435 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00566 nsv526594 13 81228082 81248783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702913 S 2026 0 1 "" nsv524140 13 81237495 81248783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700018 S 2026 0 1 "" dgv1700n71 13 81242579 81335314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900612,nsv900611,nsv900610 M 6533 0 4 "" IS31074,IS36219,IS39011,MS17114 esv2042838 13 81253512 81253919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875288 S 1 0 1 "" NA18507 esv1534567 13 81253690 81253745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987260 S 2 0 1 "" HuRef esv2535246 13 81254085 81255587 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175183 S 1 0 0 "" NA18507 esv997032 13 81262695 81262840 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564763 S 3 1 0 "" HuRef esv271421 13 81265676 81267360 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515960,essv2513827 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12873,NA19143 esv1002944 13 81265708 81269575 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564601 S 3 1 0 "" HuRef esv1476109 13 81265712 81265712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625077 S 2 1 0 "" HuRef nsv520572 13 81270269 81290693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697496 S 2026 0 1 "" nsv900613 13 81367146 81450671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559003 S 6533 0 1 "" MS23670 dgv1701n71 13 81367146 81668705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900619,nsv900614,nsv900615,nsv900620,nsv900617 M 6533 0 9 "" IS30824,IS31137,IS31581,MS15199,MS17114,MS18847,MS18978,MS20872,MS22104 esv1509444 13 81383300 81383300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346210 S 2 1 0 "" HuRef nsv900616 13 81394402 81486527 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549586 S 6533 1 0 "" MS18274 nsv900618 13 81397566 81503671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552867 S 6533 0 1 "" MS19634 nsv471156 13 81402686 81528896 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545434 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 esv2178407 13 81444407 81444830 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4534862 S 1 0 1 "" NA18507 nsv64728 13 81445444 81445444 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83306 M 24 "" esv268135 13 81470471 81470738 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513905 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 dgv1702n71 13 81486527 81933067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900622,nsv900621 M 6533 0 2 "" IS31074,IS31145 dgv1703n71 13 81547434 82106056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900625,nsv900624,nsv900623 M 6533 0 3 "" IS31041,IS36219,IS38065 esv25644 13 81591767 81592750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10770 S 451 0 1 "" NA19190 esv271689 13 81723914 81724226 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496611,essv2496800,essv2494328,essv2504151,essv2501115,essv2495000,essv2505991,essv2505300,essv2507280,essv2501250,essv2506506,essv2510925,essv2498663,essv2510402,essv2496931,essv2493859,essv2512081,essv2501890,essv2502094 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18498,NA18502,NA18505,NA18516,NA18520,NA18523,NA18853,NA18870,NA19093,NA19108,NA19116,NA19138,NA19172,NA19190,NA19210,NA19238,NA19239,NA19257 esv272774 13 81723938 81724222 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580128,essv2580387,essv2579966,essv2580590,essv2579321,essv2579706 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1425348 13 81731027 81731027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977149 S 2 1 0 "" HuRef nsv900626 13 81764574 81866495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595001 S 6533 0 1 "" IS40067 nsv900627 13 81764574 82124758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550852 S 6533 0 1 "" MS18620 esv2444988 13 81786716 81788521 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308172 S 1 0 1 "" NA18507 esv2071156 13 81787020 81787748 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985566 S 1 0 1 "" NA18507 esv5197 13 81787178 81787664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27638 S 1 0 1 Single Asian sample YH "" YH esv997727 13 81787199 81787541 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570209 S 3 0 1 "" HuRef esv8323 13 81787203 81787541 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30764 S 1 0 1 "" SJK esv1049872 13 81787213 81787556 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762599 S 2 0 1 "" HuRef nsv900628 13 81810716 81933067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534162 S 6533 0 1 "" MS11467 dgv1704n71 13 81810716 82055207 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900630,nsv900629 M 6533 0 2 "" IS31330,MS23670 dgv1705n71 13 81844590 81950345 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900631,nsv900634,nsv900632 M 6533 0 5 "" IS31166,IS37103,IS37974,IS38235,IS41068 dgv1706n71 13 81844590 82128002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900646,nsv900637,nsv900645,nsv900633,nsv900647,nsv900640 M 6533 0 7 "" IS31046,IS31067,IS33566,IS34489,IS41924,MS15749,MS18978 dgv1707n71 13 81854308 82011175 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900642,nsv900635,nsv900638 M 6533 0 3 "" IS32615,IS34962,MS25751 dgv1708n71 13 81854308 82055207 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900639,nsv900636,nsv900644,nsv900643 M 6533 0 4 "" IS30616,IS31118,IS31554,IS41317 nsv900641 13 81879686 81975705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537941 S 6533 0 1 "" MS13426 nsv900648 13 81904021 82192196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556655 S 6533 0 1 "" MS22104 nsv471157 13 81950345 82111094 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545435 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00599 nsv900649 13 81954698 82011175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569303 S 6533 0 1 "" IS31558 nsv900650 13 81975705 82055207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600936 S 6533 0 1 "" IS41948 nsv526853 13 81984661 81989192 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703211 S 2026 1 0 "" nsv818982 13 81984661 82012600 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417432 S 112 1 0 "" NA18952 dgv235n27 13 81984661 82055207 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456013,nsv456014 M 1557 0 2 "" NINDS_212,NINDS_227 nsv900651 13 81989192 82374336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570165 S 6533 0 1 "" IS31821 nsv510618 13 81993861 81999372 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622676 S 4 0 1 "" NA18994 dgv1709n71 13 81994032 82106056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900653,nsv900652 M 6533 0 2 "" IS35572,IS39666 esv1588974 13 82019034 82019034 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850273 S 2 1 0 "" HuRef dgv576e1 13 82035430 82280653 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv371,essv24145 M 271 0 0 "" NA10847 nsv510597 13 82057484 82089459 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624343 S 4 0 0 "" NA18994 nsv511525 13 82061918 82078187 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626147 S 1 0 1 "" 1 nsv436163 13 82062793 82070760 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466746 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1003438 13 82063056 82070991 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564352 S 3 0 1 "" HuRef nsv821472 13 82063867 82070602 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421052 S 1 0 1 "" NA10851 esv6922 13 82063870 82070213 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29363 S 1 0 1 "" SJK nsv512330 13 82063878 82070248 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624912 S 1 0 1 "" 1 esv24592 13 82063946 82070153 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18074 S 451 26 3 "" NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv2264086 13 82077265 82077953 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665426 S 1 0 1 "" NA18507 esv2434776 13 82077362 82078910 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192672 S 1 0 1 "" NA18507 esv5418 13 82077405 82077914 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27859 S 1 0 1 Single Asian sample YH "" YH esv8080 13 82077465 82077780 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30521 S 1 0 1 "" SJK nsv528314 13 82096952 82106056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704894 S 2026 0 1 "" dgv1710n71 13 82106056 82192196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900654,nsv900655 M 6533 0 2 "" MS17114,MS25968 nsv456016 13 82124758 82163627 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533439 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01319 dgv1711n71 13 82138730 82202173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900657,nsv900656,nsv900658 M 6533 0 10 "" IS30597,IS31179,IS31369,IS31728,IS32289,IS39119,IS41043,MS13426,MS13727,MS15199 nsv9090 13 82143883 82157168 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24843,nssv21355 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA18980 esv268791 13 82182194 82183295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494285,essv2500899,essv2513372,essv2502070 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18856,NA18907,NA19257 nsv528126 13 82213653 82254566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704671 S 2026 0 1 "" esv999443 13 82224777 82224777 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565984 S 3 1 0 "" HuRef esv1643312 13 82224870 82224870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331197 S 2 1 0 "" HuRef nsv832662 13 82307672 82481757 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450377 S 95 1 0 "" dgv1712n71 13 82328209 82651409 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900661,nsv900659 M 6533 0 2 "" IS37226,IS41317 nsv510353 13 82379985 82385985 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624148 S 4 0 1 "" NA18994 dgv1713n71 13 82395711 82502943 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900662,nsv900660,nsv900664,nsv900669 M 6533 0 5 "" IS30522,IS30824,IS31581,IS35572,MS22104 nsv900663 13 82409546 82491141 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570968,nssv1569758 M 6533 1 1 "" IS31703,IS32382 dgv1714n71 13 82409546 82525117 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900670,nsv900665 M 6533 3 0 "" IS30564,IS36899,IS39331 nsv900666 13 82409546 82559456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581859,nssv1598474 M 6533 0 2 "" IS35742,IS41113 nsv900667 13 82409546 82775280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567792 S 6533 0 1 "" IS31145 nsv900668 13 82409546 82987208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579326 S 6533 0 1 "" IS35083 nsv832663 13 82411998 82576851 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450378 S 95 0 1 "" nsv510354 13 82438259 82444259 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624149,nssv622238 M 4 0 2 "" NA10860,NA18994 nsv900671 13 82455859 82680633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551821 S 6533 0 1 "" MS18978 esv2428882 13 82478149 82479777 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386497 S 1 0 1 "" NA18507 esv2159587 13 82478252 82478731 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513202 S 1 0 1 "" NA18507 nsv9092 13 82512013 82524962 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26530 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv1715n71 13 82550369 82680633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900673,nsv900672 M 6533 0 2 "" IS34779,IS41224 dgv577e1 13 82592802 82779067 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16363,esv68 M 271 0 0 "" NA19193 nsv900674 13 82593890 82680633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577911 S 6533 0 1 "" IS34599 nsv900675 13 82593890 82735155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583004 S 6533 0 1 "" IS36219 esv5778 13 82597557 82597649 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28219 S 1 1 0 "" SJK nsv9093 13 82608849 82614930 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26544 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv526635 13 82647523 82651409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702957 S 2026 0 1 "" nsv826729 13 82650249 82652802 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426088 S 31 1 0 "" AK4 esv2636281 13 82675105 82676610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310409 S 1 0 1 "" NA18507 nsv437170 13 82680633 82694731 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467051 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12753 esv2421723 13 82686034 82690173 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5123069,essv5114059,essv5141122,essv5023679,essv5065732,essv5033392,essv5067191,essv5029593,essv5071835,essv5095868,essv5127142,essv5113506,essv5005349,essv5116018,essv5083341,essv5091847,essv5111948,essv5045790,essv5105983,essv5108059,essv5047364,essv5109810,essv5068230,essv5087316,essv5083346,essv5110470,essv5114048,essv5136759,essv5017642 M 1184 0 29 "" NA10836,NA12753,NA12763,NA12828,NA12832,NA12843,NA19027,NA19311,NA19657,NA19659,NA19779,NA20509,NA20524,NA20535,NA20882,NA20884,NA20892,NA20903,NA21086,NA21090,NA21100,NA21144,NA21302,NA21303,NA21363,NA21415,NA21513,NA21521,NA21576 esv28540 13 82686251 82690615 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20198 S 451 0 1 "" NA12828 nsv515815 13 82686707 82689616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670954,nssv686463,nssv686350,nssv664867,nssv657949,nssv673002,nssv690282,nssv676256,nssv667214,nssv687662,nssv655027,nssv676958,nssv683446,nssv669723 M 2026 0 14 "" nsv507717 13 82688419 82694419 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619116 S 4 1 0 "" NA10860 nsv524490 13 82693542 82697765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700428 S 2026 0 1 "" nsv64427 13 82699229 82699438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83005 M 24 "" nsv507718 13 82724965 82730965 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619117 S 4 1 0 "" NA10860 nsv525535 13 82735155 82741223 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701670 S 2026 0 1 "" nsv900676 13 82735155 83004473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550853 S 6533 0 1 "" MS18620 nsv528315 13 82740523 82775280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704895 S 2026 0 1 "" dgv1716n71 13 82741223 82970570 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900677,nsv900678 M 6533 0 2 "" IS31041,MS15199 esv1006373 13 82775035 82776996 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564914 S 3 0 1 "" HuRef nsv900679 13 82799334 82932995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587573 S 6533 0 1 "" IS38065 nsv826730 13 82819698 82826123 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437722 S 31 0 1 "" NA18949 nsv442322 13 82821536 82825906 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv456017 13 82832762 82919341 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533440 S 1557 0 1 "" NINDS_183 nsv519660 13 82846048 82851694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657455,nssv674802 M 2026 0 2 "" nsv900680 13 82863121 82968336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551822 S 6533 0 1 "" MS18978 esv25062 13 82948586 82949607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19834 S 451 0 1 "" NA19147 nsv523067 13 82953447 82960281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698753 S 2026 0 1 "" nsv471158 13 82953447 83055928 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545440,nssv545438,nssv545446,nssv545447,nssv545439,nssv545443,nssv545437,nssv545449,nssv545441,nssv545448,nssv545445,nssv545444,nssv545436 M 443 0 13 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00708,HGDP00854,HGDP00863,HGDP00864,HGDP00877,HGDP00970,HGDP01038,HGDP01039,HGDP01046,HGDP01049,HGDP01050,HGDP01051,HGDP01228 dgv578e1 13 82956558 83175698 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4879,esv704 M 271 0 0 "" NA18561 dgv236n27 13 82987208 83055928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456032,nsv456033,nsv456037,nsv456035,nsv456036,nsv456038,nsv456018,nsv456020,nsv456034 M 1557 0 9 "" HGDP00855,HGDP00859,HGDP00860,HGDP00864,HGDP00970,HGDP01044,HGDP01050,HGDP01057,HGDP01058 dgv237n27 13 82996585 83049998 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456028,nsv456027,nsv456025,nsv456022,nsv456031,nsv456029,nsv456024,nsv456026,nsv456023,nsv456021 M 1557 0 10 "" 1780854097_A,HGDP00708,HGDP00861,HGDP00868,HGDP00869,HGDP00872,HGDP00877,HGDP01047,HGDP01056,HGDP01353 dgv1717n71 13 82996585 83063628 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900682,nsv900681 M 6533 0 8 "" MS12157,SP50998,SP52131,SP55287,SP55547,SP56223,SP57078,SP81553 esv2751153 13 82998931 83180655 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989932,essv6989419 M 771 0 1 "" BEC_814 esv2421668 13 83000441 83055928 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5062062,essv5129743,essv5095479,essv5033053,essv5044510,essv5159157,essv5043343,essv5090125,essv5107230,essv5081872,essv5012158,essv5088628,essv5124371,essv5106620,essv5087232,essv5074113,essv5161095,essv5058716,essv5016143,essv5061929,essv5123014,essv5120204,essv5155702,essv5144122 M 1184 0 24 "" NA19649,NA19650,NA19657,NA19681,NA19683,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19726,NA19727,NA19747,NA19748,NA19755,NA19760,NA19780,NA19782,NA19783,NA19784,NA19794,NA19796 nsv517663 13 83000441 83055928 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674470,nssv652891,nssv686066,nssv678566,nssv686790,nssv661757,nssv665762,nssv692683,nssv670997,nssv652743,nssv679491,nssv676775,nssv656392,nssv656116,nssv675927,nssv682092,nssv662652,nssv670674,nssv668506,nssv678186,nssv687083,nssv680168,nssv657474,nssv653021,nssv688259,nssv660557,nssv673530 M 2026 0 27 "" esv2751154 13 83004473 83045936 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985179,essv6985178 M 771 0 1 "" SPC_118 dgv579e1 13 83009774 83030766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11320,essv14044 M 271 0 0 "" NA18862,NA18863 nsv456040 13 83012727 83055928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533462 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00751 nsv456042 13 83019164 83043271 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533463 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00889 esv2517810 13 83025090 83028808 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296291 S 1 0 1 "" NA18507 esv1970216 13 83025455 83028306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4866575 S 1 0 1 "" NA18507 nsv900683 13 83030421 83098401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585037 S 6533 0 1 "" IS37226 nsv456043 13 83034857 83055928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533464 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00856 nsv1104 13 83052395 83062654 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6569 S 9 1 0 "" NA12156 esv23842 13 83058832 83082111 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11032 S 451 1 0 "" NA12156 essv7488 13 83063628 83156897 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18561 nsv1105 13 83074501 83106181 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6570,nssv2045 M 9 2 0 "" NA12156,NA18555 dgv1718n71 13 83107061 83294393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900684,nsv900685 M 6533 0 2 "" IS31117,SP80982 esv6305 13 83128269 83128383 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28746 S 1 1 0 "" SJK nsv1106 13 83193218 83228544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1156 S 9 1 0 "" NA19240 esv2450491 13 83376003 83377829 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180128 S 1 0 1 "" NA18507 esv2320379 13 83376837 83377553 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715610 S 1 0 1 "" NA18507 esv23211 13 83379394 83379954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14589 S 451 0 1 "" NA19129 nsv526962 13 83422611 83457816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703334 S 2026 0 1 MIR548F1 esv1005450 13 83433751 83440834 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564288 S 3 0 1 MIR548F1 HuRef nsv1107 13 83471338 83516509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9144 S 9 0 1 MIR548F1 NA12156 nsv518065 13 83495120 83522913 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695476 S 2026 0 1 MIR548F1 nsv900686 13 83522913 84569506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564682 S 6533 1 0 MIR548F1 IS30280 nsv826732 13 83554286 83563034 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428609 S 31 1 0 MIR548F1 AK10 nsv900687 13 83589002 83612656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503450,nssv1511937,nssv1503323 M 6533 0 3 MIR548F1 SP52035,SP52058,SP55195 esv2561636 13 83609778 83611306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181602 S 1 0 1 MIR548F1 NA18507 nsv832664 13 83694716 83852394 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450379 S 95 1 0 MIR548F1 nsv456045 13 83699380 83705008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533465 S 1557 0 1 MIR548F1 1782681495_A nsv900688 13 83705008 83814859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577833 S 6533 0 1 MIR548F1 IS34573 esv1360349 13 83712080 83712080 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882666 S 2 1 0 MIR548F1 HuRef nsv507719 13 83728526 83734526 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623147 S 4 1 0 MIR548F1 NA18994 nsv832665 13 83746088 83939312 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450380 S 95 0 1 MIR548F1 nsv900689 13 83775517 83848047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568377,nssv1556657 M 6533 0 2 MIR548F1 IS31259,MS22104 nsv900690 13 83775517 83950478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594037 S 6533 0 1 MIR548F1 IS39666 nsv521458 13 83800561 83884074 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698068 S 2026 1 0 MIR548F1 nsv1108 13 83801857 83835483 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9499,nssv4080,nssv2046,nssv9999,nssv6571,nssv1157,nssv5484 M 9 7 0 MIR548F1 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv268562 13 83807201 83807537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497365,essv2493038,essv2495190,essv2505580 M 157 4 0 Samples from several populations that are part of the HapMap project. MIR548F1 NA18545,NA18951,NA18964,NA19005 esv1004203 13 83814084 83823709 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565329 S 3 1 0 MIR548F1 HuRef nsv832666 13 83926183 84091797 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450391,nssv1450385,nssv1450395,nssv1450387,nssv1450388,nssv1450384,nssv1450390,nssv1450404,nssv1450386,nssv1450393,nssv1450392,nssv1450409,nssv1450396,nssv1450381,nssv1450403,nssv1450382,nssv1450402,nssv1450408,nssv1450399,nssv1450397,nssv1450398,nssv1450401,nssv1450389,nssv1450400 M 95 24 0 "" nsv519656 13 83950478 83959029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685416,nssv695182,nssv658874,nssv657414 M 2026 0 4 "" esv998894 13 83954658 83955039 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577282 S 3 0 1 "" HuRef esv2506874 13 83984355 83985962 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275014 S 1 0 1 "" NA18507 nsv528529 13 84026146 84031242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705140 S 2026 0 1 "" nsv64302 13 84083347 84083398 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82880 M 24 "" dgv1719n71 13 84104474 84192882 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900691,nsv900692,nsv900693 M 6533 0 3 "" IS34856,IS35083,IS41224 nsv900694 13 84124117 84242528 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541524 S 6533 1 0 "" MS15342 esv1768689 13 84168045 84168097 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785087 S 2 0 1 "" HuRef esv21654 13 84173069 84180929 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13089 S 451 0 1 "" NA18858 nsv900695 13 84174979 84208605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574077,nssv1538437 M 6533 0 2 "" IS33507,MS13727 nsv900696 13 84174979 84242528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550854 S 6533 0 1 "" MS18620 dgv1720n71 13 84174979 84272147 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900698,nsv900697 M 6533 2 0 "" MS16832,MS25139 dgv1721n71 13 84174979 84327911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900699,nsv900701,nsv900700 M 6533 8 0 "" SP50109,SP52719,SP54524,SP56330,SP56419,SP57073,SP57803,SP81471 dgv1722n71 13 84174979 84503947 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900703,nsv900702 M 6533 0 2 "" IS39011,MS17114 nsv471159 13 84181912 84235949 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545450 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 nsv832667 13 84320788 84455378 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450410 S 95 0 1 "" nsv507720 13 84339031 84345031 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620549 S 4 1 0 "" NA15510 esv270322 13 84371529 84371754 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511051,essv2511436,essv2511231,essv2499386,essv2500209,essv2512234,essv2502918,essv2508339,essv2508805,essv2502761,essv2504366 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11831,NA11920,NA11931,NA11994,NA12006,NA12155,NA12156,NA12749,NA12878,NA12892 esv274253 13 84371541 84371770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580098,essv2580027 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv1723n71 13 84376856 84607131 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900712,nsv900704 M 6533 0 2 "" IS35181,MS10737 nsv471161 13 84395446 84526778 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545452,nssv545451 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864,HGDP01060 nsv900705 13 84403995 84496987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519706 S 6533 1 0 "" SP50170 nsv521873 13 84410144 84412352 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694645 S 2026 0 1 "" dgv1724n71 13 84410144 84462580 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900707,nsv900706 M 6533 0 2 "" IS30051,IS33531 dgv1725n71 13 84412352 84484720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900714,nsv900708,nsv900709,nsv900713 M 6533 0 8 "" IS30742,IS34896,IS35263,IS35566,IS40067,MS15036,MS17642,MS24586 dgv1726n71 13 84412352 84512475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900711,nsv900710,nsv900715,nsv900716 M 6533 0 8 "" IS33507,IS33786,IS36219,MS10098,MS11467,MS18978,MS23290,MS25751 nsv456047 13 84441154 84455108 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533466 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 nsv900717 13 84441313 84480308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584927 S 6533 0 1 "" IS37194 nsv821673 13 84446447 84867020 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421248 S 31 0 1 "" nsv442323 13 84446480 84453972 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv580e1 13 84446595 84452592 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3652,essv1068,esv1055 M 271 0 0 "" NA18990,NA18991 nsv9094 13 84465526 84470205 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24868 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv900718 13 84465637 84512475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541211 S 6533 0 1 "" MS15199 nsv900719 13 84496987 84521684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554646 S 6533 0 1 "" MS20872 dgv1727n71 13 84496987 84726646 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900726,nsv900720,nsv900723,nsv900725,nsv900727 M 6533 0 5 "" IS31067,IS31145,IS31338,IS35236,IS35771 nsv818983 13 84502069 84514542 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417587 S 112 1 0 "" NA18972 nsv900721 13 84507278 84569506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555280 S 6533 0 1 "" MS21252 dgv1728n71 13 84507278 84624020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900722,nsv900724 M 6533 0 2 "" IS33196,MS21356 nsv519345 13 84510389 84512475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696803 S 2026 0 1 "" nsv456048 13 84521684 84654411 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533467 S 1557 0 1 "" NINDS_160 nsv900728 13 84531579 84607131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598345 S 6533 0 1 "" IS41224 nsv900729 13 84550996 84867077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594038 S 6533 0 1 "" IS39666 esv271731 13 84582351 84582697 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495432,essv2503864 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA12761 nsv9095 13 84590963 84604340 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24362 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv24142 13 84610856 84611876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13866 S 451 0 2 "" NA18508,NA19257 esv2422250 13 84616436 84869540 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161474 S 181 0 1 "" ND04946 esv1009655 13 84617847 84617847 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566036 S 3 1 0 "" HuRef esv1198256 13 84617848 84617848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225730 S 2 1 0 "" HuRef nsv9096 13 84620747 84623122 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21018 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv1109 13 84634437 84668241 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2904 S 9 1 0 "" NA18555 nsv64131 13 84638623 84640043 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82709 M 24 "" nsv511511 13 84697431 84706126 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626130 S 1 0 1 "" 1 nsv512331 13 84698086 84701429 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624913 S 1 0 1 "" 1 nsv826733 13 84698602 84701376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427016,nssv1429717,nssv1422015 M 31 0 3 "" AK6,NA18547,NA18947 esv27767 13 84698867 84701358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13823 S 451 0 3 "" NA12239,NA12776,NA19190 esv273520 13 84718315 84718400 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581467 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv900730 13 84760270 84809557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550855 S 6533 0 1 "" MS18620 nsv456049 13 84762300 84971008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533468 S 1557 0 1 "" NINDS_182 nsv524753 13 84762300 84971008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700744 S 2026 0 1 "" esv2521218 13 84769312 84769904 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377049 S 1 1 0 "" NA18507 esv272689 13 84769575 84770383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580780,essv2578943 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv272071 13 84769586 84770395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565808,essv2540836,essv2571590,essv2546327,essv2521180,essv2526112,essv2536570,essv2544163,essv2570958,essv2568149,essv2545652,essv2523193,essv2531725,essv2577632,essv2570670,essv2548264,essv2576564,essv2550538,essv2525249,essv2535022,essv2544308,essv2552205,essv2520354,essv2547514,essv2529326,essv2558325,essv2564645,essv2553886,essv2576299,essv2555060,essv2530595,essv2562079,essv2537648,essv2528515,essv2546974,essv2530475,essv2540091,essv2557355,essv2557032,essv2551811,essv2532221,essv2562568,essv2550143,essv2536959,essv2539218,essv2527107,essv2561655,essv2544798,essv2562938,essv2552870,essv2538246,essv2542721,essv2540251,essv2524599,essv2565003,essv2534911,essv2519610,essv2559814,essv2522199,essv2531195,essv2532633,essv2528821,essv2570328,essv2563923,essv2535636,essv2572376,essv2559313,essv2568923,essv2543607,essv2528051,essv2562303,essv2539431,essv2534006,essv2573112,essv2533536,essv2555567,essv2566627,essv2573774,essv2555945,essv2573386,essv2543224,essv2572116,essv2526927,essv2529538,essv2575514,essv2526505,essv2560748,essv2524087,essv2574765,essv2530258,essv2568475,essv2545150,essv2560176,essv2548114,essv2571409,essv2536086,essv2548767,essv2533227,essv2554682,essv2547927,essv2525066,essv2563230,essv2557862 M 157 103 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18499,NA18501,NA18504,NA18505,NA18507,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18566,NA18570,NA18571,NA18573,NA18576,NA18579,NA18593,NA18603,NA18608,NA18609,NA18638,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18942,NA18944,NA18945,NA18948,NA18951,NA18956,NA18964,NA18965,NA18973,NA19005,NA19093,NA19099,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19210,NA19238 dgv1729n71 13 84771571 84850326 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900732,nsv900731 M 6533 0 2 "" IS36244,IS41068 esv23069 13 84772741 84780355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18520 S 451 0 1 "" NA19225 nsv456050 13 84778423 84850326 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533469 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00155 esv2394605 13 84827331 84827874 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661507 S 1 0 1 "" NA18507 esv2477316 13 84834196 84836149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264177 S 1 0 1 "" NA18507 esv1961324 13 84834515 84835813 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572358 S 1 0 1 "" NA18507 esv29130 13 84834716 84835338 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15674 S 451 0 2 "" NA18861,NA19114 esv1397763 13 84867967 84867967 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260538 S 2 1 0 "" HuRef nsv471162 13 84892701 85194820 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545454 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00586 nsv456051 13 84892701 85204453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533470 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00586 esv1004474 13 84906716 84906802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568293 S 3 0 1 "" HuRef esv1005128 13 84961063 84961114 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573662 S 3 0 1 "" HuRef esv1004914 13 84961109 84961158 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581357 S 3 0 1 "" HuRef esv1042950 13 84961133 84961183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189365 S 2 0 1 "" HuRef nsv510355 13 85022418 85028418 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624151 S 4 0 1 "" NA18994 esv273395 13 85064417 85064609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580127,essv2579926 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv268237 13 85064420 85064617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510168,essv2510131,essv2511026,essv2503223,essv2495426,essv2511443,essv2495285,essv2499394,essv2508005,essv2500213,essv2512420,essv2499435,essv2508059,essv2501658,essv2512224,essv2502900,essv2513134,essv2503400,essv2508493,essv2502541,essv2503834,essv2493410,essv2493401,essv2504999,essv2508873,essv2500334,essv2502831,essv2496787,essv2504064,essv2509726,essv2496549,essv2506163,essv2500395,essv2494602,essv2497194,essv2497767,essv2500048,essv2499856,essv2504569,essv2507905,essv2506332,essv2511315,essv2500613,essv2494428,essv2500080,essv2507661,essv2512679,essv2508116,essv2508637,essv2510054,essv2496082,essv2499213,essv2501582,essv2512927,essv2507460,essv2507189,essv2493962,essv2509316,essv2511647,essv2503080,essv2511080,essv2497966,essv2503514,essv2502457,essv2512331,essv2505410,essv2500491,essv2497438,essv2495968,essv2495141,essv2500755,essv2512794,essv2506723,essv2499005,essv2509579,essv2497465,essv2512106,essv2497994,essv2503640,essv2495779,essv2511490,essv2499509,essv2513131 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11919,NA11920,NA11992,NA11994,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12717,NA12750,NA12761,NA12763,NA12776,NA12828,NA12878,NA12891,NA12892,NA18498,NA18505,NA18508,NA18510,NA18523,NA18537,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18870,NA18871,NA18909,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18961,NA18964,NA18973,NA18980,NA19108,NA19114,NA19129,NA19147,NA19238,NA19240 nsv900733 13 85090377 85207367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591765 S 6533 0 1 "" IS39011 nsv832668 13 85132886 85262255 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450411 S 95 1 0 "" esv271399 13 85163184 85163292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510565,essv2509076,essv2498616,essv2504849,essv2497460,essv2510424,essv2497032,essv2501998 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18522,NA18858,NA19099,NA19147,NA19172,NA19190,NA19257 esv1320378 13 85202364 85202364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196243 S 2 1 0 "" HuRef esv274028 13 85238110 85238853 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580146,essv2580483,essv2579834,essv2580890 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv269837 13 85238125 85238849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510286,essv2500846,essv2510987,essv2511220,essv2495256,essv2499484,essv2512216,essv2513227,essv2495344,essv2495885,essv2503436,essv2508592,essv2502495,essv2503833,essv2508837,essv2500343,essv2496861,essv2510708,essv2494276,essv2506161,essv2498368,essv2508756,essv2500426,essv2497284,essv2494532,essv2497195,essv2497759,essv2500039,essv2508323,essv2504489,essv2507836,essv2506397,essv2511304,essv2500655,essv2494393,essv2507642,essv2508184,essv2508464,essv2508685,essv2510021,essv2499309,essv2507465,essv2511659,essv2503169,essv2503548,essv2502351,essv2493111,essv2505429,essv2503696,essv2495948,essv2502667,essv2503574,essv2495739,essv2503994,essv2495075,essv2511551,essv2504348 M 157 57 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10851,NA11830,NA11831,NA11931,NA11992,NA12044,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12761,NA12878,NA12891,NA18498,NA18501,NA18502,NA18523,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18605,NA18638,NA18940,NA18943,NA18947,NA18948,NA18951,NA18952,NA18960,NA18961,NA18965 esv273305 13 85259475 85259648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580079,essv2580394,essv2579909,essv2580757,essv2579734 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv271646 13 85259519 85259641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510254,essv2500868,essv2496623,essv2511183,essv2504485,essv2513145,essv2495873,essv2508582,essv2503768,essv2504992,essv2508845,essv2500286,essv2494154,essv2494582,essv2504579,essv2507796,essv2506382,essv2512693,essv2508670,essv2496103,essv2499313,essv2504946,essv2511090,essv2503550,essv2502355,essv2512374,essv2505422,essv2500543,essv2500740,essv2512812,essv2495791,essv2503987 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10851,NA11830,NA11894,NA11931,NA11993,NA12249,NA12489,NA12717,NA12761,NA12828,NA12878,NA12891,NA18502,NA18550,NA18563,NA18564,NA18566,NA18577,NA18592,NA18603,NA18605,NA18942,NA18944,NA18947,NA18948,NA18949,NA18952,NA18956,NA18973,NA18980 esv269518 13 85281646 85283397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508923,essv2497019,essv2502177 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19190,NA19257 dgv1730n71 13 85313633 85757696 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900741,nsv900734,nsv900740 M 6533 0 4 "" IS33196,MS17114,MS18620,MS23340 dgv1731n71 13 85324758 85443904 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900736,nsv900735 M 6533 0 2 "" IS40729,SP58537 dgv1732n71 13 85327835 85537465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900738,nsv900737,nsv900742 M 6533 0 5 "" IS31074,IS34896,IS40067,IS41043,MS10737 dgv1733n71 13 85347303 85638600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900739,nsv900750 M 6533 0 3 "" IS31205,IS41113,MS18978 nsv524758 13 85361136 85466585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700749 S 2026 0 1 "" nsv900743 13 85375774 85479868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572224 S 6533 0 1 "" IS32891 dgv1734n71 13 85396445 85427276 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900747,nsv900744 M 6533 0 3 "" IS33530,IS37801,SP53392 dgv1735n71 13 85396445 85443904 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900745,nsv900748 M 6533 0 2 "" MS10611,SP52694 nsv900746 13 85396445 85516099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556312 S 6533 0 1 "" MS21905 nsv818984 13 85427276 85443904 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417927 S 112 1 0 "" NA18852 dgv1736n71 13 85427276 85537465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900749,nsv900753,nsv900754 M 6533 0 4 "" IS30532,IS30683,IS31041,MS15199 nsv900751 13 85431688 85503289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513968 S 6533 0 1 "" SP55878 nsv456054 13 85440149 85473870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533471 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00689 nsv832669 13 85441825 85595235 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450413,nssv1450412 M 95 2 0 "" dgv1737n71 13 85443904 85780354 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900752,nsv900756 M 6533 0 3 "" MS10226,MS22327,MS25617 nsv471163 13 85456901 85518040 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545456,nssv545455 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891,HGDP01061 nsv900755 13 85468413 85503289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515378 S 6533 0 1 "" SP56173 esv1006478 13 85477389 85478245 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587117 S 3 0 1 "" HuRef esv26985 13 85477430 85478264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18232 S 451 0 1 "" NA12749 esv1779486 13 85498654 85498711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112111 S 2 0 1 "" HuRef nsv527068 13 85503289 85563006 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703447 S 2026 1 0 "" esv2751155 13 85510900 85638600 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989890,essv6983983,essv6983982,essv6989891 M 771 0 1 "" BEC_74 nsv523306 13 85516099 85526242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699046 S 2026 0 1 "" esv2412688 13 85550124 85550521 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907625 S 1 0 1 "" NA18507 nsv519559 13 85561923 85573760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656858,nssv674408 M 2026 0 2 "" nsv436174 13 85570543 85577361 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466747 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2567068 13 85570658 85574356 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377325 S 1 0 1 "" NA18507 esv2319219 13 85571608 85574410 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865551 S 1 0 1 "" NA18507 esv2583066 13 85571652 85573674 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192001 S 1 0 1 "" NA18507 esv24576 13 85571820 85574142 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16683 S 451 0 12 "" NA18517,NA18523,NA18858,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv900757 13 85582238 85723976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567568 S 6533 0 1 "" IS31118 nsv471164 13 85599003 85709160 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545457 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01051 dgv1738n71 13 85614607 85734784 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900759,nsv900760,nsv900758 M 6533 0 3 "" SP50876,SP55683,SP57367 nsv513703 13 85712836 85715594 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626955 S 1 0 0 "" 1 esv1420387 13 85712906 85712906 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911958 S 2 1 0 "" HuRef esv995231 13 85712906 85717460 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564704 S 3 1 0 "" HuRef esv7161 13 85712986 85715443 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29602 S 1 0 0 "" SJK esv1448993 13 85713654 85713870 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655375 S 2 0 1 "" HuRef nsv516701 13 85783272 85788685 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670234,nssv672307 M 2026 0 2 "" dgv1739n71 13 85871398 85980670 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900765,nsv900764,nsv900761 M 6533 0 4 "" IS31118,IS32607,IS33566,MS17114 nsv900762 13 85871398 86151401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594217 S 6533 0 1 "" IS39718 nsv900763 13 85871398 86456987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574746 S 6533 0 1 "" IS33616 dgv1740n71 13 85876054 86002839 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900766,nsv900767 M 6533 0 2 "" IS33839,IS34896 nsv471165 13 85891876 85974518 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545458 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01061 dgv1741n71 13 85914480 86006618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900769,nsv900768,nsv900771 M 6533 0 12 "" IS30532,IS30539,IS31044,IS31070,IS31137,IS31330,IS33533,IS35083,IS36533,MS10699,MS11669,MS12827 nsv900770 13 85938652 86002839 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578899,nssv1581860,nssv1570252,nssv1597807,nssv1569905,nssv1556658,nssv1582016,nssv1598840 M 6533 2 6 "" IS31729,IS31837,IS34962,IS35742,IS35771,IS41189,IS41340,MS22104 nsv900772 13 85938652 86033803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562832 S 6533 0 1 "" MS25751 esv1069912 13 85948021 85948073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765330 S 2 0 1 "" HuRef esv4101 13 85953157 85953713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26542 S 1 0 1 Single Asian sample YH "" YH nsv64744 13 85953194 85953498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83322 M 24 "" nsv900773 13 85957110 86261101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548274 S 6533 0 1 "" MS17785 nsv900774 13 85980670 86061074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575514 S 6533 0 1 "" IS33763 nsv456056 13 86006618 86085619 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533472 S 1557 0 1 "" 1780862355_A nsv900775 13 86109968 86456987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570253 S 6533 0 1 "" IS31837 esv269441 13 86190930 86191243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557861,essv2565711,essv2575855,essv2540891,essv2571614,essv2546432,essv2521207,essv2525911,essv2542516,essv2536424,essv2543997,essv2570950,essv2545649,essv2523363,essv2531851,essv2577607,essv2570703,essv2548443,essv2576893,essv2550629,essv2550358,essv2535372,essv2554310,essv2544421,essv2552217,essv2520334,essv2547258,essv2529358,essv2558301,essv2564461,essv2577806,essv2559512,essv2520062,essv2564280,essv2530568,essv2561765,essv2537393,essv2528218,essv2547031,essv2530469,essv2557015,essv2552702,essv2532167,essv2578845,essv2539204,essv2569707,essv2561639,essv2544683,essv2563012,essv2523514,essv2552906,essv2541420,essv2538381,essv2542633,essv2540239,essv2524543,essv2565080,essv2534882,essv2561296,essv2539736,essv2549373,essv2519794,essv2560102,essv2522221,essv2566252,essv2532828,essv2567946,essv2528880,essv2567564,essv2541770,essv2570302,essv2553209,essv2535689,essv2572202,essv2559407,essv2542189,essv2569009,essv2543475,essv2527892,essv2562271,essv2534101,essv2578152,essv2533695,essv2555745,essv2529848,essv2527707,essv2557630,essv2556074,essv2534237,essv2522413,essv2531291,essv2573487,essv2543142,essv2576919,essv2572165,essv2525700,essv2526972,essv2529644,essv2575285,essv2526429,essv2574591,essv2530338,essv2568753,essv2545211,essv2549606,essv2571227,essv2574323,essv2551302,essv2536065,essv2537836,essv2548992,essv2533322,essv2554425,essv2547866,essv2524789,essv2563316 M 157 116 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18501,NA18502,NA18505,NA18510,NA18519,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18856,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18944,NA18945,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19102,NA19114,NA19138,NA19141,NA19147,NA19172,NA19225,NA19238,NA19240,NA19257 esv272273 13 86190932 86191245 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581891,essv2582469,essv2583190,essv2584237,essv2583705 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1646983 13 86190964 86190964 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070755 S 2 1 0 "" HuRef dgv1742n71 13 86205378 86456987 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900777,nsv900778,nsv900776,nsv900779 M 6533 0 4 "" IS31041,IS31729,IS35742,IS36244 esv25931 13 86208776 86216498 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19146 S 451 0 2 "" NA12239,NA19257 nsv513392 13 86230041 86230538 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625787 S 1 1 0 "" 1 esv2441064 13 86276949 86278128 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373247 S 1 1 0 "" NA18507 esv269163 13 86277525 86277859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496811,essv2511886,essv2509815,essv2501123,essv2506247,essv2498553,essv2502047 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18508,NA18516,NA18523,NA18858,NA19257 dgv1743n71 13 86290358 86456987 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900781,nsv900780 M 6533 0 12 "" IS30593,IS31070,IS31074,IS31554,IS32615,IS33196,IS34407,IS35083,IS35229,IS39011,MS21470,MS25751 dgv1744n71 13 86334248 86456987 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900784,nsv900782 M 6533 3 0 "" SP52130,SP55077,SP57779 nsv832671 13 86337346 86505708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450414 S 95 0 1 "" nsv900783 13 86344158 86441971 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509587 S 6533 0 1 "" SP54884 esv8648 13 86398165 86398250 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31089 S 1 1 0 "" SJK esv991765 13 86398244 86398244 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580905 S 3 1 0 "" HuRef esv269979 13 86494207 86494483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516634,essv2514172,essv2515450,essv2516533,essv2515581,essv2514419,essv2517734,essv2513843,essv2518375,essv2519459,essv2513702 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11881,NA12043,NA12249,NA12814,NA12815,NA12874,NA12878,NA19143,NA19240 esv272581 13 86494207 86494483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581425,essv2581196 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1443716 13 86525051 86525051 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019158 S 2 1 0 "" HuRef esv1205279 13 86525083 86525083 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704775 S 2 1 0 "" HuRef esv27802 13 86629335 86635067 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15838 S 451 0 1 "" NA19099 nsv517795 13 86634853 86691391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694048 S 2026 0 1 "" esv269808 13 86650726 86651077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510532,essv2509672,essv2496201,essv2506607,essv2510941 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18511,NA19108,NA19116 esv1620262 13 86661044 86661044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716436 S 2 1 0 "" HuRef esv2597750 13 86666959 86668041 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226557 S 1 1 0 "" NA18507 esv274408 13 86667584 86667856 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580184,essv2580502 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv271325 13 86667595 86667927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557824,essv2577411,essv2529090,essv2559408,essv2521002,essv2557436,essv2557186,essv2562735,essv2569330,essv2550054,essv2537148,essv2527389,essv2561584,essv2543497,essv2556248,essv2562161,essv2539345,essv2534174,essv2538842,essv2526620,essv2560635,essv2530296,essv2568722,essv2545763,essv2574399,essv2551314 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12043,NA12749,NA12776,NA18498,NA18499,NA18501,NA18507,NA18508,NA18511,NA18517,NA18522,NA18523,NA18870,NA18871,NA18909,NA18912,NA18916,NA19108,NA19114,NA19116,NA19141,NA19147,NA19239,NA19240,NA19257 nsv826734 13 86687784 86688440 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426090 S 31 1 0 "" AK4 nsv832672 13 86792964 86965898 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450415 S 95 0 1 MIR4500HG nsv63960 13 86820749 86820807 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82538 M 24 "" dgv1745n71 13 86853418 86956838 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900785,nsv900786 M 6533 0 2 MIR4500HG MS18620,SP52723 nsv818985 13 86922142 86940706 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416391,nssv1416392 M 112 0 2 MIR4500HG NA18855,NA18857 dgv581e1 13 86954602 87112550 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv336,essv17786 M 271 0 0 MIR4500,MIR4500HG NA10831 nsv519480 13 87001078 87069604 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696875 S 2026 0 1 MIR4500,MIR4500HG esv1565763 13 87078276 87078276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116986 S 2 1 0 MIR4500HG HuRef nsv524508 13 87198375 87206215 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700452 S 2026 1 0 "" esv2554947 13 87223561 87225179 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215816 S 1 0 1 "" NA18507 nsv64928 13 87224558 87224636 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83506 M 24 "" nsv832673 13 87229111 87405320 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450416 S 95 0 1 "" nsv523153 13 87252080 87269138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698861 S 2026 0 1 "" nsv515796 13 87268186 87269138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666511,nssv690035,nssv672067,nssv675928,nssv662529,nssv652131,nssv669500,nssv673473 M 2026 0 8 "" dgv1746n71 13 87352161 87497144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900789,nsv900788,nsv900787 M 6533 0 8 "" IS31479,IS35487,IS38242,IS41950,MS10727,MS12266,MS21470,MS23670 dgv1747n71 13 87383929 87689871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900792,nsv900790 M 6533 0 3 "" MS13292,MS14761,MS20346 esv267987 13 87402334 87402435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512550,essv2509108,essv2506105,essv2498538,essv2505870,essv2507225,essv2494105,essv2513333,essv2509180,essv2501397,essv2506900,essv2510907,essv2509479,essv2497699,essv2499745,essv2501860 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18522,NA18523,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA19093,NA19102,NA19116,NA19129,NA19147,NA19225,NA19239 esv274053 13 87402336 87402489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580165,essv2580367 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv900791 13 87421303 87569496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581426 S 6533 0 1 "" IS35572 esv1371254 13 87426822 87426871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090610 S 2 0 1 "" HuRef nsv64069 13 87440140 87442289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82647 M 24 "" esv1056017 13 87440297 87440353 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061857 S 2 0 1 "" HuRef nsv1111 13 87488103 87523390 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1158 S 9 1 0 "" NA19240 nsv900793 13 87509961 87669760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553087 S 6533 0 1 "" MS19721 esv1007952 13 87544508 87547465 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586807 S 3 1 0 "" HuRef nsv471166 13 87669760 87778273 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545459 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00064 nsv456057 13 87669760 87778274 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533473 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00064 esv2471176 13 87674053 87675558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226411 S 1 0 1 "" NA18507 dgv1748n71 13 87708107 87831067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900796,nsv900794,nsv900797 M 6533 0 3 "" IS31205,IS33839,IS41043 dgv1749n71 13 87722396 87791958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900795,nsv900799 M 6533 0 2 "" IS32006,SP56004 nsv900798 13 87722396 87859902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552901 S 6533 1 0 "" MS19637 esv2423571 13 87724043 87725656 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223815 S 1 0 1 "" NA18507 nsv900800 13 87740503 87877093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542188 S 6533 0 1 "" MS15704 dgv1750n71 13 87746151 87841327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900801,nsv900804,nsv900803,nsv900802 M 6533 0 9 "" IS31054,IS33475,MS11669,MS13154,MS13727,MS18648,MS19634,MS21252,MS23670 dgv1751n71 13 87756937 87841327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900805,nsv900808,nsv900807,nsv900806,nsv900812,nsv900811 M 6533 0 7 "" IS30593,IS34962,IS35083,IS39718,IS39944,MS15749,MS24045 dgv1752n71 13 87761677 87987143 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900810,nsv900809 M 6533 0 2 "" IS41909,MS17697 nsv900813 13 87791958 87841327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523466,nssv1569344,nssv1534164 M 6533 0 3 "" IS31563,MS11467,SP54030 esv1250944 13 87798157 87798157 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174109 S 2 1 0 "" HuRef esv997746 13 87801034 87802104 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565025 S 3 0 1 "" HuRef esv2103315 13 87801081 87801806 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542749 S 1 0 1 "" NA18507 esv3132 13 87801238 87801685 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25573 S 1 0 1 Single Asian sample YH "" YH esv999832 13 87801265 87801600 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582692 S 3 0 1 "" HuRef esv6729 13 87801271 87801601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29170 S 1 0 1 "" SJK esv1471929 13 87801284 87801620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299237 S 2 0 1 "" HuRef nsv510619 13 87813093 87816990 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618906 S 4 0 1 "" NA10860 esv2223120 13 87871078 87871734 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993098 S 1 0 1 "" NA18507 esv2553804 13 87871260 87871550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301043 S 1 0 1 "" NA18507 dgv1753n71 13 87896617 88014191 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900815,nsv900814 M 6533 0 2 "" IS37698,MS23531 nsv900816 13 88022650 88190882 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536478 S 6533 1 0 "" MS12812 esv995491 13 88024896 88027610 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586809 S 3 0 1 "" HuRef esv1003001 13 88025029 88025029 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568678 S 3 1 0 "" HuRef nsv64345 13 88025030 88025030 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82923 M 24 "" esv2518552 13 88050628 88052024 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197377 S 1 0 1 "" NA18507 esv2191440 13 88051273 88051993 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557686 S 1 0 1 "" NA18507 esv1402844 13 88051471 88051798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322663 S 2 0 1 "" HuRef esv998681 13 88052833 88052833 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580860 S 3 1 0 "" HuRef esv1022153 13 88052834 88052834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744048 S 2 1 0 "" HuRef esv275053 13 88100825 88111845 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585475,essv2585187 M 1250 1 1 "" dgv1754n71 13 88100825 88203661 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900819,nsv900817,nsv900818 M 6533 0 5 "" IS31581,IS34489,IS35145,MS12266,MS25751 nsv900820 13 88100825 88484508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541213 S 6533 0 1 "" MS15199 nsv900821 13 88100825 88739210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568766 S 6533 0 1 "" IS31335 nsv471167 13 88103651 88191188 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545460 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00903 nsv1112 13 88162976 88215544 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9295 S 9 0 1 "" NA18517 esv2095581 13 88170145 88170585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721263 S 1 0 1 "" NA18507 nsv64648 13 88170283 88170364 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83226 M 24 "" esv994104 13 88170331 88170412 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566898 S 3 0 1 "" HuRef esv1759641 13 88170367 88170449 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983306 S 2 0 1 "" HuRef nsv64390 13 88170368 88170449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82968 M 24 "" nsv1113 13 88171370 88204968 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5485 S 9 1 0 "" NA19129 dgv1755n71 13 88195028 88286822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900823,nsv900822 M 6533 0 2 "" SP54579,SP57270 dgv582e1 13 88209082 88673975 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5793,esv799 M 271 0 0 "" NA18566 nsv523143 13 88214498 88223143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698850 S 2026 0 1 "" nsv511526 13 88218897 88223143 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626148 S 1 1 0 "" 1 dgv341n67 13 88219842 88221283 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826737,nsv826735 M 31 0 3 "" NA18537,NA18570,NA18969 nsv820319 13 88219842 88221283 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421053 S 1 0 1 "" NA10851 dgv342n67 13 88219917 88220947 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826738,nsv826736 M 31 0 20 "" AK10,AK12,AK16,AK18,AK20,AK6,NA18526,NA18542,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18949,NA18968,NA18972,NA18973,NA18997,NA18999 nsv819476 13 88219947 88221212 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419220 S 2 1 0 "" AK1 esv26457 13 88219960 88221178 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11940 S 451 14 2 "" NA11894,NA11931,NA11995,NA12287,NA12749,NA12828,NA12878,NA18523,NA18858,NA18861,NA18909,NA19108,NA19147,NA19190,NA19225,NA19257 dgv1756n71 13 88227737 88372220 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900824,nsv900825 M 6533 0 2 "" IS30742,MS12947 nsv9097 13 88248289 88255371 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24350 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 dgv1757n71 13 88264124 88484508 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900828,nsv900840,nsv900826 M 6533 0 3 "" IS36722,IS41971,SP55878 dgv1758n71 13 88272703 88368223 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900830,nsv900827,nsv900833,nsv900829 M 6533 0 4 "" IS30302,IS30522,IS36219,IS39450 dgv1759n71 13 88275370 88435082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900835,nsv900831,nsv900839 M 6533 0 3 "" IS32167,IS38993,MS10737 nsv826739 13 88275708 88628602 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436145 S 31 1 0 "" NA18566 nsv900832 13 88279805 88343644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566612 S 6533 0 1 "" IS30824 nsv1114 13 88285578 88330805 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9145 S 9 0 1 "" NA12156 dgv1760n71 13 88300820 88362651 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900834,nsv900836 M 6533 0 3 "" IS32006,IS33605,IS39248 dgv1761n71 13 88303493 88368223 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv900838,nsv900837 M 6533 3 6 "" IS31179,IS31330,IS31617,IS32517,IS36364,IS40067,IS41043,IS41224,IS41906 esv34578 13 88313665 88620800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986883,essv6979537,essv6979538,essv6979539,essv6986882 M 771 1 0 "" NA18566 dgv1762n71 13 88321571 88420193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900841,nsv900842 M 6533 0 2 "" IS38219,IS41982 essv4535 13 88337416 88620754 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18566 nsv9098 13 88371823 88374540 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19295 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv64900 13 88372790 88372943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83478 M 24 "" nsv900843 13 88381855 88484508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574301 S 6533 0 1 "" IS33533 esv271504 13 88382756 88382899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496154,essv2493794,essv2509408 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18517,NA19129 nsv832674 13 88447147 88571585 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450417 S 95 0 1 "" essv8627 13 88476233 88642741 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv821674 13 88510050 88578302 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421249,nssv1421250 M 31 0 2 "" nsv900844 13 88519608 88742834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541214 S 6533 0 1 "" MS15199 nsv900845 13 88556696 88662819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517232 S 6533 1 0 "" SP57217 dgv1763n71 13 88568385 88671874 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900846,nsv900847 M 6533 0 2 "" MS12968,MS15036 nsv832675 13 88570411 88724956 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450420,nssv1450419 M 95 2 0 "" esv1122153 13 88589406 88589406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217460 S 2 1 0 "" HuRef dgv583e1 13 88594137 88662594 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6414,essv5430 M 271 0 0 "" NA18542,NA18545 nsv442324 13 88594853 88637414 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1764n71 13 88595904 88651256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900850,nsv900848,nsv900849 M 6533 0 14 "" SP50061,SP50102,SP50523,SP50761,SP50936,SP51145,SP51307,SP53287,SP53821,SP54373,SP55610,SP56886,SP57941,SP58561 nsv900851 13 88595904 88739210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568170 S 6533 0 1 "" IS31205 nsv826740 13 88600798 88639275 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436989 S 31 0 1 "" NA18542 nsv523742 13 88615400 88628502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699558 S 2026 0 1 "" nsv456058 13 88615400 88638240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533474 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00955 nsv518445 13 88615400 88638240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695883 S 2026 0 1 "" nsv818986 13 88615400 88638240 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417148 S 112 0 1 "" NA18542 dgv1765n71 13 88615400 88706282 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900852,nsv900855,nsv900854 M 6533 0 3 "" IS30522,IS39718,MS18847 dgv1766n71 13 88622077 88671874 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900858,nsv900853 M 6533 0 3 "" IS31259,IS33475,IS35181 dgv1767n71 13 88622077 88732020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900856,nsv900857 M 6533 0 2 "" IS30302,IS31758 dgv2e22 13 88724215 88724275 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array esv1743229,esv1260056 M 2 0 1 "" HuRef esv1002796 13 88724216 88724271 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575951 S 3 0 1 "" HuRef nsv64058 13 88724216 88724275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82636 M 24 "" nsv1115 13 88725651 88759593 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4081 S 9 1 0 "" NA12878 nsv832676 13 88739213 88888425 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450421 S 95 1 0 "" nsv900859 13 88742834 88834167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561963 S 6533 0 1 "" MS25304 nsv900860 13 88806942 89057292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538206 S 6533 0 1 "" MS13517 nsv900861 13 88835468 88895556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600482 S 6533 0 1 "" IS41889 dgv1768n71 13 88865508 88943825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900862,nsv900863 M 6533 0 2 "" MS21356,MS22353 nsv900864 13 88908726 88971516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515770 S 6533 0 1 "" SP56267 esv23677 13 89044502 89048198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19165 S 451 1 0 "" NA12878 nsv456059 13 89074828 89153676 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533475 S 1557 0 1 "" 1780862528_A esv2422378 13 89078620 89597586 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161245 S 181 0 1 "" ND04531 nsv900865 13 89087166 89230586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578901 S 6533 0 1 "" IS34962 nsv1116 13 89092938 89139238 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10000,nssv2905,nssv1159 M 9 3 0 "" NA18555,NA18956,NA19240 nsv510932 13 89101900 89124422 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621622,nssv624344 M 4 0 0 "" NA15510,NA18994 nsv456060 13 89107160 89190615 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533476 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00580 esv994402 13 89118900 89119851 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565466 S 3 1 0 "" HuRef esv1781811 13 89119201 89119201 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277614 S 2 1 0 "" HuRef dgv1769n71 13 89123421 89230586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900867,nsv900866 M 6533 0 4 "" IS31074,IS31205,IS39900,MS10699 esv989684 13 89163275 89163275 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568487 S 3 1 0 "" HuRef esv1656067 13 89163276 89163276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004774 S 2 1 0 "" HuRef esv274657 13 89199801 89200154 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578868,essv2579627 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269967 13 89199814 89200152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575974,essv2571707,essv2546481,essv2521319,essv2536599,essv2522895,essv2556782,essv2523266,essv2531902,essv2577368,essv2570557,essv2548376,essv2521710,essv2525324,essv2554236,essv2544536,essv2520323,essv2547135,essv2529150,essv2558593,essv2577743,essv2553835,essv2565325,essv2576480,essv2564109,essv2555148,essv2561839,essv2556847,essv2552681,essv2532077,essv2562769,essv2569297,essv2550163,essv2558854,essv2569798,essv2527103,essv2544676,essv2562833,essv2541202,essv2538361,essv2540292,essv2539698,essv2519821,essv2529031,essv2567316,essv2570345,essv2559349,essv2566707,essv2542149,essv2550975,essv2562221,essv2539397,essv2533969,essv2555227,essv2566357,essv2527588,essv2557718,essv2522555,essv2531281,essv2543163,essv2529829,essv2575753,essv2560602,essv2524158,essv2530237,essv2568561,essv2560485,essv2549709,essv2545954,essv2551526,essv2536102,essv2548987,essv2554443,essv2524952,essv2563212 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07357,NA10847,NA11830,NA11840,NA11881,NA11894,NA11920,NA11931,NA11994,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12156,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12814,NA12828,NA12872,NA12874,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18516,NA18520,NA18522,NA18526,NA18532,NA18545,NA18547,NA18552,NA18563,NA18566,NA18579,NA18582,NA18593,NA18638,NA18853,NA18856,NA18858,NA18909,NA18912,NA18916,NA18943,NA18948,NA18952,NA18953,NA18960,NA18961,NA18965,NA19093,NA19099,NA19116,NA19129,NA19141,NA19147,NA19190,NA19225,NA19239,NA19257 esv2054192 13 89219178 89219728 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797551 S 1 0 1 "" NA18507 esv3622 13 89219300 89219584 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26063 S 1 0 1 Single Asian sample YH "" YH esv996058 13 89219381 89219533 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566684 S 3 0 1 "" HuRef esv1280870 13 89219384 89219537 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860470 S 2 0 1 "" HuRef nsv456064 13 89227194 89684079 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533477 S 1557 0 1 MIR622 NINDS_165 nsv507721 13 89264122 89270122 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620550,nssv623148 M 4 2 0 "" NA15510,NA18994 nsv510356 13 89303456 89309456 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618390,nssv624152 M 4 0 2 "" CHM,NA18994 esv267910 13 89308375 89308706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557919,essv2565582,essv2546385,essv2521119,essv2525862,essv2542324,essv2544097,essv2545313,essv2570730,essv2525285,essv2565515,essv2576226,essv2554925,essv2540010,essv2552727,essv2550130,essv2561377,essv2523785,essv2524608,essv2567520,essv2543758,essv2533972,essv2578175,essv2533631,essv2555983,essv2573710,essv2575154,essv2551614,essv2547957 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10851,NA11829,NA11881,NA11894,NA11918,NA11919,NA11992,NA12003,NA12044,NA12156,NA12812,NA12814,NA12872,NA18489,NA18502,NA18511,NA18523,NA18537,NA18555,NA18582,NA18870,NA18916,NA18940,NA18944,NA18956,NA18964,NA19102,NA19257 esv267599 13 89348541 89348873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558027,essv2540859,essv2571814,essv2546454,essv2526274,essv2542365,essv2536585,essv2522897,essv2544177,essv2570814,essv2568180,essv2523278,essv2531871,essv2577206,essv2525471,essv2535264,essv2554129,essv2520684,essv2547335,essv2558246,essv2577861,essv2553640,essv2559765,essv2565299,essv2576303,essv2520205,essv2564170,essv2554997,essv2530735,essv2562010,essv2537263,essv2528375,essv2530479,essv2557487,essv2532335,essv2562782,essv2569396,essv2578509,essv2550103,essv2558796,essv2537081,essv2538946,essv2569860,essv2527399,essv2544585,essv2562922,essv2523503,essv2552754,essv2538382,essv2542625,essv2540503,essv2524723,essv2564849,essv2534800,essv2561115,essv2539625,essv2549524,essv2519604,essv2559970,essv2521962,essv2566039,essv2531085,essv2532641,essv2567746,essv2528712,essv2541872,essv2570082,essv2563638,essv2553213,essv2535675,essv2572214,essv2566875,essv2551119,essv2556416,essv2528115,essv2562218,essv2533879,essv2578490,essv2555451,essv2533755,essv2555775,essv2566594,essv2529850,essv2573840,essv2527556,essv2555848,essv2534415,essv2531528,essv2573485,essv2543102,essv2573302,essv2576949,essv2525590,essv2529834,essv2575432,essv2538581,essv2526659,essv2560911,essv2574688,essv2568606,essv2549850,essv2571266,essv2545859,essv2574308,essv2536094,essv2537772,essv2548715,essv2533285,essv2554528,essv2547956,essv2525190,essv2563168 M 157 112 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12004,NA12006,NA12043,NA12156,NA12249,NA12287,NA12716,NA12717,NA12750,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18486,NA18499,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18858,NA18871,NA18907,NA18909,NA18916,NA18940,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18969,NA18970,NA18980,NA19093,NA19099,NA19108,NA19114,NA19137,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240 esv273775 13 89348542 89348872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581683,essv2582269,essv2584320,essv2584500,essv2583539 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 nsv64578 13 89348562 89348562 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83156 M 24 "" nsv1117 13 89356432 89377804 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2906 S 9 1 0 "" NA18555 esv6167 13 89381274 89381352 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28608 S 1 1 0 "" SJK nsv900868 13 89386062 89440786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530179,nssv1546224 M 6533 0 2 "" MS10228,MS17114 esv267457 13 89457048 89457133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514472 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 dgv1770n71 13 89482521 89552700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900871,nsv900870,nsv900869 M 6533 0 3 "" IS31145,SP50144,SP56294 nsv832677 13 89485287 89646837 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450422 S 95 1 0 "" nsv826741 13 89486394 89647154 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431594 S 31 1 0 "" AK18 nsv433272 13 89488779 89508794 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463153 S 9 0 1 "" NA15510 dgv1771n71 13 89493256 89552700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900872,nsv900874,nsv900873 M 6533 0 5 "" IS30432,IS31335,MS12071,MS15312,MS19634 nsv528839 13 89554984 89555412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705516 S 2026 0 1 "" nsv528428 13 89554984 89559260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705021 S 2026 0 1 "" nsv522513 13 89569738 89570618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705882 S 2026 0 1 "" dgv1772n71 13 89623390 89702840 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900876,nsv900875 M 6533 2 0 MIR622 SP52500,SP53154 nsv510357 13 89639866 89645866 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618391 S 4 0 1 "" CHM nsv900877 13 89645197 89699281 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512868 S 6533 1 0 MIR622 SP55647 esv2550766 13 89660319 89663487 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170236 S 1 0 1 "" NA18507 esv2397500 13 89660697 89662986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900779 S 1 0 1 "" NA18507 esv23390 13 89660713 89662792 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21006 S 451 16 6 "" NA11894,NA11931,NA12006,NA12044,NA12239,NA12287,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 dgv343n67 13 89660713 89662879 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826744,nsv826746,nsv826743,nsv826745 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820909 13 89660713 89662879 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421054 S 1 0 1 "" NA10851 nsv512332 13 89660732 89663343 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624914 S 1 0 1 "" 1 esv4310 13 89660817 89662907 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26751 S 1 0 1 Single Asian sample YH "" YH esv9453 13 89660856 89662852 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31894 S 1 0 1 "" SJK esv269209 13 89701240 89701591 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517006,essv2517567,essv2516913,essv2515232 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12878,NA12892,NA19238 esv274044 13 89701245 89701588 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582020,essv2582807,essv2584125 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv29045 13 89708981 89712018 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12339 S 451 0 1 "" NA18858 esv1092170 13 89741361 89741361 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601398 S 2 1 0 "" HuRef esv273825 13 89745621 89745965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581636,essv2581143 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv268152 13 89745626 89745960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557979,essv2565827,essv2541036,essv2571706,essv2546364,essv2526043,essv2542399,essv2536406,essv2522859,essv2543870,essv2570825,essv2523330,essv2531853,essv2577530,essv2570552,essv2576785,essv2550657,essv2550414,essv2535230,essv2547288,essv2558322,essv2577788,essv2553590,essv2559629,essv2520117,essv2555109,essv2561856,essv2537215,essv2540043,essv2557564,essv2557176,essv2552643,essv2551654,essv2532252,essv2562712,essv2569429,essv2550193,essv2558771,essv2537042,essv2569862,essv2527058,essv2561612,essv2523740,essv2552947,essv2541343,essv2542718,essv2540437,essv2524476,essv2564931,essv2534922,essv2560992,essv2539763,essv2519546,essv2559993,essv2522217,essv2566062,essv2531265,essv2532530,essv2567789,essv2529036,essv2567349,essv2541798,essv2569905,essv2563750,essv2553208,essv2535735,essv2572558,essv2559083,essv2566709,essv2542124,essv2551073,essv2568996,essv2543658,essv2556238,essv2527976,essv2562369,essv2539438,essv2533882,essv2578237,essv2573051,essv2555249,essv2533700,essv2555739,essv2567201,essv2566491,essv2530042,essv2573755,essv2527716,essv2556040,essv2534300,essv2531668,essv2573585,essv2543349,essv2577091,essv2572184,essv2525593,essv2529507,essv2575786,essv2575168,essv2538641,essv2526485,essv2560608,essv2524300,essv2560835,essv2574671,essv2572641,essv2568695,essv2545005,essv2560346,essv2548070,essv2574148,essv2551363,essv2538085,essv2533336,essv2554585,essv2547892,essv2524761,essv2563463 M 157 118 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12004,NA12006,NA12043,NA12044,NA12154,NA12155,NA12234,NA12249,NA12717,NA12750,NA12761,NA12763,NA12776,NA12815,NA12872,NA12874,NA12878,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19190,NA19210,NA19240,NA19257 esv998081 13 89745642 89745642 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577050 S 3 1 0 "" HuRef esv1543493 13 89745652 89745652 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829713 S 2 1 0 "" HuRef esv29407 13 89822170 89825490 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16941 S 451 0 1 "" NA12239 esv270769 13 89866691 89867082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511917,essv2510004,essv2505827,essv2506664,essv2498700,essv2497098,essv2499797 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18593,NA18861,NA19108,NA19138,NA19190,NA19225 esv1425806 13 89946125 89946227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215143 S 2 0 1 "" HuRef esv273312 13 89947303 89947524 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578996 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271194 13 89947375 89947508 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506817,essv2511195,essv2505089,essv2512443,essv2501645,essv2502880,essv2513194,essv2507775,essv2493347,essv2505029,essv2508859,essv2500302,essv2502782,essv2504330,essv2506275,essv2503351,essv2499978,essv2504549,essv2494435,essv2507527,essv2505809,essv2507218,essv2513237,essv2503140,essv2497952,essv2503569,essv2502416,essv2503707,essv2502708,essv2500726,essv2505657,essv2497688 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931,NA11995,NA12043,NA12144,NA12156,NA12249,NA12751,NA12776,NA12828,NA12878,NA12891,NA12892,NA18505,NA18523,NA18542,NA18558,NA18563,NA18572,NA18638,NA18861,NA18870,NA18907,NA18943,NA18945,NA18947,NA18948,NA18960,NA18965,NA18973,NA19005,NA19147 nsv64027 13 89947410 89947410 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82605 M 24 "" esv1271905 13 89947425 89947425 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979930 S 2 1 0 "" HuRef dgv344n67 13 89950191 89950714 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826748,nsv826747 M 31 0 2 "" AK6,NA18570 esv2095175 13 89957858 89958491 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723287 S 1 0 1 "" NA18507 esv5091 13 89957990 89958348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27532 S 1 0 1 Single Asian sample YH "" YH esv1690680 13 89958054 89958303 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225983 S 2 0 1 "" HuRef esv8435 13 89958055 89958302 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30876 S 1 0 1 "" SJK nsv526002 13 90022069 90060301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702228 S 2026 0 1 "" esv270298 13 90100274 90100612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513892 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 dgv116n21 13 90184441 90196753 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526357,nsv521546 M 2026 0 2 "" esv7047 13 90272534 90272592 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29488 S 1 1 0 "" SJK esv23477 13 90336767 90338041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19927 S 451 0 2 "" NA12004,NA12239 dgv1773n71 13 90417134 90524885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900879,nsv900878 M 6533 0 3 "" MS20947,SP54173,SP56246 nsv900880 13 90423723 90646291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590483 S 6533 1 0 "" IS38515 esv273148 13 90424190 90425811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579235 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270594 13 90424194 90425820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506770,essv2499333,essv2512463,essv2499431,essv2505572,essv2502559,essv2507735,essv2503798,essv2493466,essv2508907,essv2500281,essv2502817,essv2495509,essv2504363 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11918,NA11994,NA12043,NA12044,NA12154,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA12892,NA18916 nsv507722 13 90459427 90465427 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617870 S 4 1 0 "" CHM nsv436173 13 90460321 90463264 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466748 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv900881 13 90502313 90627941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532085 S 6533 1 0 "" MS10709 nsv526854 13 90549620 90552959 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703212 S 2026 1 0 "" nsv832678 13 90569620 90730242 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450423 S 95 1 0 "" nsv1118 13 90652486 90686646 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2907 S 9 1 0 "" NA18555 nsv832679 13 90657468 90828221 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450424 S 95 1 0 MIR17,MIR17HG,MIR18A,MIR19A,MIR19B1,MIR20A,MIR92A1 nsv528942 13 90724397 90731783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705633 S 2026 0 1 "" nsv1119 13 90724605 90760114 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9146 S 9 0 1 "" NA12156 nsv510620 13 90743175 90795423 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620067 S 4 0 1 "" NA15510 esv28603 13 90797636 90799438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14252 S 451 0 5 MIR17HG NA07045,NA12156,NA12749,NA19190,NA19257 nsv826749 13 90909508 90910124 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434682 S 31 0 1 GPC5 NA18570 nsv514714 13 90936512 90940320 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627125 S 1414 0 0 GPC5 esv269253 13 90959638 90959978 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557934,essv2565587,essv2540886,essv2546499,essv2521301,essv2526010,essv2536569,essv2522929,essv2556473,essv2568291,essv2545431,essv2523331,essv2532003,essv2577559,essv2570627,essv2548622,essv2521561,essv2576530,essv2550593,essv2550260,essv2535399,essv2553977,essv2544320,essv2552028,essv2520445,essv2547411,essv2529201,essv2558357,essv2564691,essv2577686,essv2553751,essv2559430,essv2565496,essv2564195,essv2561795,essv2537674,essv2528319,essv2546785,essv2530511,essv2540012,essv2520746,essv2557510,essv2549988,essv2538877,essv2544962,essv2563071,essv2523602,essv2541307,essv2538199,essv2542849,essv2540561,essv2524472,essv2564927,essv2534514,essv2561288,essv2539697,essv2549464,essv2519848,essv2559992,essv2522047,essv2566331,essv2532869,essv2567719,essv2529006,essv2567610,essv2541463,essv2570026,essv2563873,essv2553453,essv2535570,essv2572417,essv2559082,essv2541961,essv2562410,essv2578374,essv2555473,essv2533753,essv2555698,essv2566638,essv2527507,essv2555996,essv2534469,essv2522478,essv2531361,essv2573709,essv2543236,essv2576997,essv2572007,essv2575502,essv2575360,essv2538601,essv2571092,essv2535952,essv2548806,essv2533413,essv2554642,essv2547855,essv2524846,essv2563142 M 157 99 0 Samples from several populations that are part of the HapMap project. GPC5 NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18498,NA18499,NA18511,NA18519,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18909,NA18940,NA18943,NA18944,NA18945,NA18948,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19099,NA19102,NA19108,NA19238 esv272764 13 90959644 90959982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582077,essv2582291,essv2582825,essv2583970 M 7 4 0 Samples from several populations that are part of the HapMap project. GPC5 NA12878,NA12891,NA12892,NA19238 esv1383574 13 90959675 90959675 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309061 S 2 1 0 GPC5 HuRef nsv900882 13 91026447 91102975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572557 S 6533 0 1 GPC5 IS33136 esv267861 13 91059253 91059584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565739,essv2576049,essv2540895,essv2521322,essv2525916,essv2542227,essv2536695,essv2522876,essv2543964,essv2568364,essv2545386,essv2523219,essv2577580,essv2570692,essv2548530,essv2521469,essv2576534,essv2550740,essv2525319,essv2550471,essv2535203,essv2554048,essv2544423,essv2552302,essv2520678,essv2547197,essv2529176,essv2558440,essv2577763,essv2553645,essv2559470,essv2576230,essv2520104,essv2564024,essv2554915,essv2530597,essv2537659,essv2528470,essv2546718,essv2530474,essv2520829,essv2557412,essv2551933,essv2532160,essv2569386,essv2558912,essv2537112,essv2527156,essv2561336,essv2544792,essv2562872,essv2523658,essv2553011,essv2541137,essv2538329,essv2542940,essv2540652,essv2524582,essv2565014,essv2534576,essv2561234,essv2539742,essv2549595,essv2519633,essv2560065,essv2522206,essv2565913,essv2531250,essv2532506,essv2567742,essv2528812,essv2541722,essv2570045,essv2563921,essv2535901,essv2572217,essv2559237,essv2566864,essv2541955,essv2569138,essv2543481,essv2528109,essv2534009,essv2578186,essv2555318,essv2533543,essv2555758,essv2567011,essv2566368,essv2529915,essv2574047,essv2527647,essv2557689,essv2555901,essv2534323,essv2522586,essv2531419,essv2573615,essv2543109,essv2577110,essv2571912,essv2525605,essv2526854,essv2575759,essv2575132,essv2524098,essv2560924,essv2574759,essv2546085,essv2574434,essv2551411,essv2536048,essv2537764,essv2548670,essv2533212,essv2554477,essv2547790,essv2525209,essv2563426,essv2557948 M 157 120 0 Samples from several populations that are part of the HapMap project. GPC5 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18504,NA18505,NA18508,NA18516,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18907,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19099,NA19102,NA19129,NA19137,NA19138,NA19239,NA19240,NA19257 esv272705 13 91059255 91059586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581806,essv2582263,essv2583122,essv2584429,essv2583367 M 7 5 0 Samples from several populations that are part of the HapMap project. GPC5 NA12878,NA12891,NA12892,NA19239,NA19240 esv1512558 13 91059287 91059287 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847564 S 2 1 0 GPC5 HuRef esv2650286 13 91076302 91077949 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361293 S 1 0 1 GPC5 NA18507 esv2258713 13 91077069 91077671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634939 S 1 0 1 GPC5 NA18507 esv1320980 13 91077265 91077600 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149867 S 2 0 1 GPC5 HuRef nsv1120 13 91170734 91198617 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5486,nssv1160 M 9 0 2 GPC5 NA19129,NA19240 nsv527713 13 91181194 91188298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704193 S 2026 0 1 GPC5 nsv498819 13 91184318 91190371 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585680 S 9 0 1 GPC5 esv21499 13 91184549 91190302 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17081 S 451 0 4 GPC5 NA18517,NA18523,NA19129,NA19240 nsv514715 13 91185176 91189472 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628194 S 1414 0 1 GPC5 nsv524271 13 91217770 91299665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700169 S 2026 0 1 GPC5 nsv900883 13 91279237 91400623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541215 S 6533 0 1 GPC5 MS15199 esv271090 13 91311945 91312249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565592,essv2546339,essv2542557,essv2536390,essv2522841,essv2545447,essv2521698,essv2576891,essv2550568,essv2535115,essv2547549,essv2529178,essv2558529,essv2564521,essv2577821,essv2553556,essv2565402,essv2519939,essv2554952,essv2537450,essv2546941,essv2562724,essv2569447,essv2561564,essv2544844,essv2563050,essv2552976,essv2538198,essv2542893,essv2524566,essv2534925,essv2539689,essv2549234,essv2559796,essv2522198,essv2565975,essv2531246,essv2532482,essv2569922,essv2563722,essv2553274,essv2535654,essv2568907,essv2528055,essv2578476,essv2533578,essv2527606,essv2573647,essv2543353,essv2577080,essv2571939,essv2525557,essv2575546,essv2536108,essv2533057,essv2554786,essv2558156 M 157 57 0 Samples from several populations that are part of the HapMap project. GPC5 NA06986,NA07051,NA07346,NA10851,NA11829,NA11881,NA11919,NA11920,NA11931,NA12003,NA12144,NA12154,NA12155,NA12249,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12815,NA12872,NA12878,NA12892,NA18507,NA18508,NA18523,NA18526,NA18532,NA18542,NA18547,NA18550,NA18555,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18593,NA18603,NA18605,NA18608,NA18861,NA18907,NA18940,NA18944,NA18952,NA18964,NA18965,NA18970,NA18973,NA18980,NA19099 esv272550 13 91311946 91312248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582046,essv2582860 M 7 2 0 Samples from several populations that are part of the HapMap project. GPC5 NA12878,NA12892 esv1107756 13 91311981 91311981 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247144 S 2 1 0 GPC5 HuRef nsv900884 13 91346842 91393573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528527 S 6533 0 1 GPC5 SP81263 dgv1774n71 13 91359715 91424400 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900886,nsv900885 M 6533 0 2 GPC5 IS30325,MS19891 nsv528318 13 91373623 91405375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704899 S 2026 0 1 GPC5 esv28030 13 91375390 91384921 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10926 S 451 1 0 GPC5 NA18858 dgv1775n71 13 91449149 91570500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900889,nsv900888,nsv900894,nsv900891,nsv900887 M 6533 0 5 GPC5 MS11467,MS15199,MS19634,MS23191,SP57270 nsv900890 13 91449149 91606690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546225 S 6533 0 1 GPC5 MS17114 nsv900892 13 91469869 91543417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579733 S 6533 1 0 GPC5 IS35174 nsv900893 13 91469869 91546939 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551363,nssv1589261,nssv1575946 M 6533 1 2 GPC5 IS33839,IS38330,MS18847 nsv900895 13 91492070 91543417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553102,nssv1556871 M 6533 0 2 GPC5 MS19736,MS22245 dgv1776n71 13 91492070 91546939 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900896,nsv900897 M 6533 2 0 GPC5 MS16471,MS23401 nsv456066 13 91492582 91682371 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533478 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPC5 HGDP01027 nsv900898 13 91503980 91546939 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547839,nssv1536580,nssv1540488,nssv1540393,nssv1535079,nssv1549373,nssv1539204,nssv1545761,nssv1545820,nssv1549563,nssv1543284,nssv1565623,nssv1536940,nssv1545781,nssv1545806,nssv1552038,nssv1542597 M 6533 16 1 GPC5 IS30483,MS12003,MS12856,MS13028,MS14258,MS14824,MS14855,MS15803,MS16125,MS16934,MS16944,MS16949,MS16959,MS17580,MS18205,MS18267,MS19135 dgv1777n71 13 91503980 91585845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900900,nsv900899 M 6533 0 2 GPC5 MS12071,SP54579 nsv900901 13 91525986 91570500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570320 S 6533 0 1 GPC5 IS31879 esv274127 13 91612251 91612385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580234,essv2580481,essv2579922 M 7 3 0 Samples from several populations that are part of the HapMap project. GPC5 NA12878,NA12891,NA12892 esv271349 13 91612289 91612424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510546,essv2509759,essv2494975,essv2501626,essv2498383,essv2505711,essv2507083,essv2504732,essv2501878 M 157 9 0 Samples from several populations that are part of the HapMap project. GPC5 NA18501,NA18508,NA18520,NA18608,NA18858,NA18861,NA18870,NA19099,NA19239 esv267450 13 91623206 91623539 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565651,essv2575983,essv2556680,essv2570598,essv2576688,essv2550288,essv2554220,essv2558431,essv2564443,essv2577891,essv2553539,essv2559415,essv2576381,essv2564316,essv2561984,essv2537425,essv2528420,essv2546871,essv2550225,essv2527317,essv2544766,essv2553058,essv2538380,essv2542997,essv2534936,essv2549442,essv2519726,essv2521934,essv2566020,essv2532704,essv2529001,essv2569904,essv2563793,essv2553375,essv2535667,essv2559010,essv2542010,essv2578440,essv2573095,essv2567130,essv2529927,essv2573894,essv2522600,essv2531570,essv2526838,essv2529598,essv2538525,essv2548868,essv2533350,essv2554773,essv2557785 M 157 51 0 Samples from several populations that are part of the HapMap project. GPC5 NA07037,NA07051,NA07346,NA10851,NA11829,NA11830,NA11994,NA12044,NA12154,NA12234,NA12287,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12828,NA12874,NA12878,NA12891,NA12892,NA18511,NA18522,NA18526,NA18542,NA18547,NA18550,NA18561,NA18564,NA18566,NA18571,NA18572,NA18576,NA18579,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18940,NA18942,NA18947,NA18949,NA18951,NA18960,NA18961,NA19005,NA19093,NA19108 esv274518 13 91623207 91623540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581998,essv2582320,essv2583127 M 7 3 0 Samples from several populations that are part of the HapMap project. GPC5 NA12878,NA12891,NA12892 nsv900902 13 91682371 91740275 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596588 S 6533 1 0 GPC5 IS40571 esv1606660 13 91690151 91690151 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360117 S 2 1 0 GPC5 HuRef nsv527287 13 91699927 91709497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703701 S 2026 0 1 GPC5 nsv518324 13 91715857 91753355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695754 S 2026 0 1 GPC5 nsv456068 13 91759152 91836914 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533479 S 1557 1 0 GPC5 NINDS_55 nsv1122 13 91793670 91824308 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4082 S 9 1 0 GPC5 NA12878 nsv900903 13 91797148 91841374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513891 S 6533 0 1 GPC5 SP55868 nsv832680 13 91819115 91979490 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450425 S 95 1 0 GPC5 nsv1123 13 91855061 91889577 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2908 S 9 1 0 GPC5 NA18555 esv2547862 13 91898745 91899635 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200608 S 1 1 0 GPC5 NA18507 esv269792 13 91899118 91899394 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571574,essv2546416,essv2526162,essv2542333,essv2536686,essv2545432,essv2523104,essv2531948,essv2577304,essv2570395,essv2548315,essv2521882,essv2554050,essv2544533,essv2552181,essv2520483,essv2547485,essv2529085,essv2558438,essv2564371,essv2578022,essv2565554,essv2576455,essv2554975,essv2562002,essv2546942,essv2520735,essv2557413,essv2557042,essv2552710,essv2551944,essv2532258,essv2569546,essv2558916,essv2539142,essv2569857,essv2527155,essv2561469,essv2563024,essv2523546,essv2552755,essv2541341,essv2538268,essv2542854,essv2540488,essv2524607,essv2564892,essv2534935,essv2561021,essv2539761,essv2549562,essv2519553,essv2560105,essv2522232,essv2566198,essv2531034,essv2532897,essv2567995,essv2528964,essv2563614,essv2559113,essv2566996,essv2542177,essv2550939,essv2543631,essv2556393,essv2527822,essv2562174,essv2533956,essv2573153,essv2555420,essv2533505,essv2555587,essv2567208,essv2566468,essv2530034,essv2573960,essv2557760,essv2556016,essv2534214,essv2573622,essv2543082,essv2572034,essv2525611,essv2526921,essv2529742,essv2575449,essv2538544,essv2524288,essv2560937,essv2530379,essv2568569,essv2549906,essv2571275,essv2545858,essv2574375,essv2551638,essv2536120,essv2537939,essv2547893,essv2525171,essv2563514 M 157 102 0 Samples from several populations that are part of the HapMap project. GPC5 NA06986,NA07000,NA07347,NA07357,NA10847,NA11840,NA11881,NA11918,NA11919,NA11920,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12812,NA12814,NA12872,NA12874,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18516,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18603,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19129,NA19137,NA19141,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv272278 13 91899118 91899394 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583179,essv2584233,essv2584643,essv2583513 M 7 4 0 Samples from several populations that are part of the HapMap project. GPC5 NA12892,NA19238,NA19239,NA19240 nsv471168 13 91936578 92006594 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545461 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPC5 HGDP00892 dgv1778n71 13 91936578 92009340 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900904,nsv900905 M 6533 0 2 GPC5 IS41068,MS18978 nsv456069 13 91959847 92002428 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533480 S 1557 0 1 GPC5 1780862404_A nsv818987 13 91999003 92006594 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416969 S 112 0 1 GPC5 NA19137 nsv1124 13 92040969 92087283 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6572 S 9 0 1 GPC5 NA12156 esv28000 13 92042574 92043966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13490 S 451 0 4 GPC5 NA12156,NA12287,NA12776,NA19099 nsv1125 13 92064542 92097535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2048 S 9 1 0 GPC5 NA18555 nsv900906 13 92077564 92103319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532689 S 6533 0 1 GPC5 MS10802 esv24496 13 92077899 92150629 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18734 S 451 8 0 GPC5 NA11894,NA11995,NA12239,NA12878,NA18508,NA18916,NA19147,NA19240 nsv521051 13 92082784 92087164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693350,nssv680766 M 2026 0 2 GPC5 nsv526003 13 92194656 92201784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702229 S 2026 0 1 GPC5 nsv456072 13 92217363 92304865 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533481 S 1557 0 1 GPC5 NINDS_156 nsv900907 13 92270378 92395800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551364 S 6533 0 1 GPC5 MS18847 nsv1126 13 92329459 92330538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4083 S 9 1 0 "" NA12878 nsv522221 13 92336058 92339485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694998 S 2026 0 1 "" nsv515697 13 92339485 92347342 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671172,nssv658945,nssv655856,nssv664452,nssv672562 M 2026 0 5 "" nsv900908 13 92373721 92416767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518758 S 6533 0 1 "" SP57983 nsv900909 13 92373721 92441215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519660 S 6533 0 1 "" SP50101 nsv900910 13 92380209 92478066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523837 S 6533 0 1 "" SP54223 nsv1127 13 92408548 92420068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10001 S 9 1 0 "" NA18956 nsv900911 13 92464119 92566863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582870 S 6533 0 1 "" IS36195 esv25880 13 92498373 92502103 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16944,esv11726 M 451 2 0 "" NA18858,NA19190 dgv117n21 13 92498676 92511121 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519671,nsv526346 M 2026 2 0 "" nsv832682 13 92498862 92672802 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450426 S 95 0 1 "" nsv1128 13 92502487 92536627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9147 S 9 1 0 "" NA12156 nsv507723 13 92522053 92528053 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617871,nssv623149 M 4 2 0 "" CHM,NA18994 esv2014384 13 92545785 92546210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930822 S 1 0 1 "" NA18507 nsv900912 13 92598115 92651930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583871,nssv1538491 M 6533 2 0 "" IS36698,MS13744 esv272554 13 92608670 92609043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580166,essv2580396,essv2579829 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2531377 13 92609448 92611003 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239917 S 1 0 1 "" NA18507 dgv1779n71 13 92612027 92667042 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900914,nsv900915,nsv900916,nsv900913,nsv900918,nsv900917 M 6533 23 0 "" IS30547,IS33200,IS34429,IS35119,IS35225,IS35803,IS36594,IS38472,IS38660,IS38669,IS38754,IS39090,IS39248,IS39254,IS39388,IS40240,IS40825,IS40898,IS41296,IS41410,MS14513,MS16707,MS24719 dgv238n27 13 92614294 92640400 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456075,nsv456073 M 1557 2 0 "" HGDP00025,HGDP00037 nsv456076 13 92614294 92651930 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533485 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00218 esv2610179 13 92625930 92626938 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344440 S 1 1 0 "" NA18507 esv269863 13 92626387 92626714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571612,essv2521201,essv2523062,essv2577546,essv2548361,essv2554221,essv2565509,essv2576234,essv2520179,essv2555123,essv2530692,essv2561817,essv2537488,essv2530315,essv2572759,essv2574094,essv2554730 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11894,NA11931,NA12043,NA12045,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA19141,NA19143,NA19240 esv272270 13 92626388 92626715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581828,essv2583759 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1360625 13 92626422 92626422 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777123 S 2 1 0 "" HuRef esv2558321 13 92680891 92682361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321692 S 1 0 1 GPC6 NA18507 nsv64659 13 92681569 92681654 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83237 M 24 GPC6 esv2751156 13 92711000 92786639 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981802,essv6981801,essv6989263,essv6989519 M 771 0 1 GPC6 BEC_48 nsv900919 13 92755817 92828694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516321 S 6533 0 1 GPC6 SP56793 nsv507724 13 92847121 92853121 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619118 S 4 1 0 GPC6 NA10860 esv2530447 13 92864923 92866461 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188773 S 1 0 1 GPC6 NA18507 dgv1780n71 13 92886708 92955482 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900921,nsv900920 M 6533 0 2 GPC6 IS30490,MS18407 nsv900922 13 92903667 93079493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572866,nssv1597690,nssv1600593,nssv1565395 M 6533 0 4 GPC6 IS30409,IS33188,IS40955,IS41901 esv269454 13 92903782 92903867 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516735,essv2517558,essv2517279,essv2513797,essv2513581 M 157 5 0 Samples from several populations that are part of the HapMap project. GPC6 NA07347,NA11881,NA12878,NA18970,NA19143 esv273421 13 92903782 92903867 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581305 S 7 1 0 Samples from several populations that are part of the HapMap project. GPC6 NA12878 esv273984 13 92918697 92918871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579188 S 7 1 0 Samples from several populations that are part of the HapMap project. GPC6 NA19239 esv272024 13 92918702 92919028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540927,essv2525991,essv2542318,essv2545704,essv2576687,essv2525470,essv2554038,essv2520385,essv2547144,essv2564598,essv2577689,essv2553519,essv2559518,essv2565383,essv2520005,essv2563943,essv2552723,essv2550056,essv2558887,essv2537076,essv2527395,essv2561649,essv2552965,essv2564852,essv2519753,essv2559235,essv2569099,essv2546115,essv2574143,essv2554604,essv2547992,essv2557942 M 157 32 0 Samples from several populations that are part of the HapMap project. GPC6 NA07346,NA07347,NA10851,NA11831,NA11918,NA11919,NA12003,NA12154,NA12156,NA12287,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA18502,NA18511,NA18516,NA18517,NA18522,NA18523,NA18542,NA18558,NA18566,NA18638,NA18861,NA19239,NA19240 nsv523214 13 92919686 92924826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698935 S 2026 0 1 GPC6 nsv818989 13 92919686 92927597 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417928 S 112 1 0 GPC6 NA18852 esv1183301 13 92961229 92961229 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951394 S 2 1 0 GPC6 HuRef esv9361 13 92963886 92963948 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31802 S 1 1 0 GPC6 SJK esv267989 13 92966851 92967101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502907,essv2513071 M 157 2 0 Samples from several populations that are part of the HapMap project. GPC6 NA10847,NA12156 dgv584e1 13 92972655 93146180 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv429,essv22639 M 271 0 0 GPC6 NA12752 nsv832683 13 93005803 93168927 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450428,nssv1450427,nssv1450430 M 95 1 2 GPC6 nsv1129 13 93054726 93081018 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9148 S 9 0 1 GPC6 NA12156 nsv832684 13 93177508 93348854 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450431,nssv1450433,nssv1450432 M 95 0 3 GPC6 esv2102591 13 93190234 93190713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632534 S 1 0 1 GPC6 NA18507 esv3143 13 93190390 93190605 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25584 S 1 0 1 Single Asian sample YH GPC6 YH nsv64776 13 93190429 93190526 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83354 M 24 GPC6 nsv1130 13 93208850 93253629 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9149 S 9 0 1 GPC6 NA12156 esv1057463 13 93215562 93215562 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307878 S 2 1 0 GPC6 HuRef esv259593 13 93247067 93247450 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393948,essv2393849,essv2394076,essv2394275 M 6 0 0 Samples from several populations that are part of the HapMap project. GPC6 NA12891,NA12892,NA19239,NA19240 nsv507725 13 93268100 93274100 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619119,nssv623150 M 4 2 0 GPC6 NA10860,NA18994 nsv900923 13 93439895 93490926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515315 S 6533 0 1 GPC6 SP56154 nsv900924 13 93512982 93617308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597045,nssv1594469 M 6533 2 0 GPC6 IS39886,IS40716 nsv526048 13 93565312 93678220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702285 S 2026 0 1 GPC6 esv2435780 13 93696711 93698103 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263381 S 1 0 1 GPC6 NA18507 esv34004 13 93704538 94190645 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 DCT,GPC6,GPR180,SOX21,TGDS nsv1131 13 93750891 93783925 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9150 S 9 1 0 GPC6 NA12156 esv2462615 13 93842148 93843579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252178 S 1 0 1 GPC6 NA18507 esv1437424 13 93842886 93843024 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229713 S 2 0 1 GPC6 HuRef nsv1133 13 93906444 93940001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1161 S 9 1 0 DCT NA19240 nsv528812 13 93940068 93940835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705486 S 2026 0 1 "" esv2566072 13 93951715 93953133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162657 S 1 0 1 "" NA18507 esv2091019 13 93952070 93952705 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720632 S 1 0 1 "" NA18507 esv5182 13 93952208 93952596 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27623 S 1 0 1 Single Asian sample YH "" YH esv1006778 13 93952239 93952498 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574266 S 3 0 1 "" HuRef esv7745 13 93952270 93952501 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30186 S 1 0 1 "" SJK esv995820 13 93952447 93952498 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567378 S 3 0 1 "" HuRef esv1759552 13 93952489 93952541 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297056 S 2 0 1 "" HuRef nsv832685 13 93977677 94077967 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450434 S 95 1 0 GPR180,TGDS esv27580 13 93994988 93999268 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20033 S 451 0 1 "" NA12828 nsv832686 13 94004743 94198993 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450435 S 95 1 0 GPR180,SOX21,TGDS nsv819312 13 94028892 94030149 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419218 S 2 0 1 TGDS AK1 esv22360 13 94051056 94051915 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19608 S 451 2 0 "" NA18909,NA19257 nsv821089 13 94051056 94051915 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421055 S 1 0 1 "" NA10851 nsv826750 13 94156503 94166071 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427021 S 31 1 0 SOX21 AK6 esv28079 13 94161105 94163839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21011 S 451 0 2 SOX21 NA12156,NA12749 nsv832687 13 94210812 94380162 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450436 S 95 1 0 "" nsv826751 13 94259664 94262700 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429367 S 31 0 1 "" AK12 esv1009895 13 94375022 94380564 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565475 S 3 0 1 "" HuRef esv274954 13 94415340 94419813 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585594 S 1250 0 1 "" nsv7246 13 94428861 97952419 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9500 S 9 0 0 ABCC4,CLDN10,DNAJC3,DZIP1,FARP1,HS6ST3,IPO5,MBNL2,MIR3170,OXGR1,RAP2A,RNF113B,STK24,UGGT2 NA18507 nsv832688 13 94431194 94578199 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450437 S 95 1 0 ABCC4 nsv510358 13 94431496 94437496 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621405,nssv624153,nssv622239,nssv618392 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv525194 13 94470951 94535193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701275 S 2026 0 1 ABCC4 esv2530045 13 94475411 94475859 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180231 S 1 1 0 ABCC4 NA18507 esv1580429 13 94475674 94475674 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960593 S 2 1 0 ABCC4 HuRef nsv832689 13 94557074 94719309 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450438 S 95 0 1 ABCC4 nsv900925 13 94588354 94606004 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519777 S 6533 1 0 ABCC4 SP50544 esv2393854 13 94646711 94647121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696113 S 1 0 1 ABCC4 NA18507 esv2903 13 94646763 94647061 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25344 S 1 0 1 Single Asian sample YH ABCC4 YH nsv522179 13 94686105 94690357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694952 S 2026 0 1 ABCC4 dgv1781n71 13 94725387 94773186 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900926,nsv900930,nsv900927,nsv900931,nsv900929 M 6533 6 0 ABCC4 SP55388,SP56119,SP57005,SP58249,SP81046,SP81512 nsv900928 13 94727327 94744641 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499964 S 6533 1 0 ABCC4 SP50171 nsv456078 13 94727889 94770497 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533486 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC4 HGDP00720 nsv471169 13 94729993 94770497 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545462 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC4 HGDP00720 nsv517610 13 94729993 94833884 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669110,nssv652505,nssv679151,nssv661348,nssv663849,nssv690627,nssv687983,nssv693373,nssv687984,nssv701105,nssv669109,nssv671542 M 2026 7 5 ABCC4 nsv456080 13 94741886 94813130 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533487 S 1557 1 0 ABCC4 NINDS_205 nsv826752 13 94772511 94774515 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439247 S 31 1 0 "" NA18973 nsv900932 13 94789264 94833884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536673,nssv1593251 M 6533 0 2 "" IS39388,MS12895 nsv456082 13 94790980 94825508 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533488 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01179 nsv471170 13 94790980 94825508 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545463 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01179 nsv525525 13 94798750 94845071 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701660 S 2026 1 0 "" nsv1134 13 94805858 94828927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1163 S 9 0 1 "" NA19240 esv2624419 13 94817829 94823268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328451 S 1 0 1 "" NA18507 esv26662 13 94818369 94822017 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14784 S 451 0 8 "" NA18508,NA18517,NA18861,NA19147,NA19190,NA19225,NA19240,NA19257 nsv524855 13 94833884 94845925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700858 S 2026 0 1 "" nsv900933 13 94936088 95013290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552722 S 6533 0 1 CLDN10 MS19587 nsv525760 13 94974035 94984576 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701928 S 2026 0 1 CLDN10 nsv900934 13 95053707 95125575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511222 S 6533 0 1 DZIP1 SP55019 nsv832690 13 95128758 95306078 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450439,nssv1450441 M 95 1 1 DNAJC3,UGGT2 esv272164 13 95129339 95131099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579200 S 7 1 0 Samples from several populations that are part of the HapMap project. DNAJC3 NA19239 esv272032 13 95129364 95130964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512585,essv2504673,essv2506731,essv2512107,essv2502209 M 157 5 0 Samples from several populations that are part of the HapMap project. DNAJC3 NA18489,NA19099,NA19108,NA19238,NA19257 nsv507726 13 95187959 95193959 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623151 S 4 1 0 DNAJC3 NA18994 nsv832691 13 95276099 95457824 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450443,nssv1450442 M 95 0 2 UGGT2 nsv527566 13 95283610 95295071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704027 S 2026 0 1 UGGT2 nsv900935 13 95295071 95429222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545417 S 6533 0 1 UGGT2 MS16786 esv269742 13 95312029 95312256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494655,essv2505347,essv2507374 M 157 3 0 Samples from several populations that are part of the HapMap project. UGGT2 NA18519,NA18853,NA18912 nsv519575 13 95335275 95338205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696929 S 2026 0 1 UGGT2 nsv1135 13 95398634 95431437 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6573 S 9 1 0 UGGT2 NA12156 esv2508393 13 95430735 95432312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210126 S 1 0 1 UGGT2 NA18507 esv1995077 13 95431247 95431934 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579769 S 1 0 1 UGGT2 NA18507 esv2761 13 95431365 95431909 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25202 S 1 0 1 Single Asian sample YH UGGT2 YH nsv64173 13 95431424 95431741 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82751 M 24 UGGT2 esv2477513 13 95431427 95431744 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291821 S 1 0 1 UGGT2 NA18507 esv1008849 13 95431430 95431747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584197 S 3 0 1 UGGT2 HuRef esv7574 13 95431437 95431739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30015 S 1 0 1 UGGT2 SJK esv1766220 13 95431437 95431755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328560 S 2 0 1 UGGT2 HuRef nsv900936 13 95495210 95830484 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512409,nssv1511900 M 6533 2 0 HS6ST3,UGGT2 SP55160,SP55488 esv27253 13 95540205 95541380 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12852 S 451 0 3 HS6ST3 NA12156,NA19190,NA19257 nsv507727 13 95609247 95615247 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617872,nssv620551,nssv619120 M 4 3 0 HS6ST3 CHM,NA10860,NA15510 esv271439 13 95632819 95632904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513868 S 157 1 0 Samples from several populations that are part of the HapMap project. HS6ST3 NA19143 nsv1136 13 95690692 95735796 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9151 S 9 0 1 HS6ST3 NA12156 nsv521410 13 95703618 95706723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698020 S 2026 0 1 HS6ST3 esv21470 13 95717836 95724011 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10256 S 451 0 2 HS6ST3 NA18523,NA19190 nsv519951 13 95720192 95721516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687171,nssv659607,nssv676172,nssv690441 M 2026 0 4 HS6ST3 nsv900937 13 95774346 96073933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578536 S 6533 0 1 HS6ST3 IS34804 esv2535297 13 95799174 95800627 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285444 S 1 0 1 HS6ST3 NA18507 nsv900938 13 95852659 95906950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541541 S 6533 0 1 HS6ST3 MS15359 nsv522493 13 95883420 95982289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705861 S 2026 0 1 HS6ST3 nsv900939 13 95887951 96214808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596298 S 6533 0 1 HS6ST3 IS40490 nsv517907 13 96135248 96190221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694059 S 2026 0 1 HS6ST3 esv2273382 13 96145680 96146075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996300 S 1 0 1 HS6ST3 NA18507 nsv516784 13 96238572 96247322 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670834,nssv677384,nssv689079,nssv691535 M 2026 2 2 HS6ST3 nsv832693 13 96392846 96575482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450444 S 95 0 1 OXGR1 esv2323650 13 96509252 96509699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622975 S 1 0 1 "" NA18507 nsv1137 13 96601475 96646815 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6574 S 9 0 1 "" NA12156 nsv832694 13 96728562 96935883 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450445 S 95 1 0 MBNL2,RAP2A esv994781 13 96753729 96754223 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587142 S 3 1 0 MBNL2 HuRef esv2531977 13 96779495 96780324 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301673 S 1 1 0 MBNL2 NA18507 nsv1138 13 96787890 96821603 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9152 S 9 1 0 MBNL2 NA12156 nsv513393 13 96789024 96789480 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625789 S 1 1 0 MBNL2 1 esv27915 13 96789828 96790340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19901 S 451 0 1 MBNL2 NA18502 esv21981 13 96883374 96885218 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14464,esv21079 M 451 0 4 RAP2A NA07045,NA12156,NA12749,NA19257 esv21921 13 96901934 96906403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10543 S 451 0 3 RAP2A NA11995,NA18858,NA19108 nsv1139 13 96931794 96976131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2049 S 9 0 1 "" NA18555 esv2042972 13 96946389 96946897 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717698 S 1 0 1 "" NA18507 nsv438257 13 96975940 96976926 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470615,nssv470614 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19201,NA19202 nsv64612 13 97021979 97021979 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83190 M 24 "" nsv900940 13 97023222 97079638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515832 S 6533 1 0 "" SP56289 nsv900941 13 97028576 97065752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502981 S 6533 1 0 "" SP51469 nsv1140 13 97031231 97076198 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9153 S 9 0 1 "" NA12156 nsv518191 13 97112333 97113282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695614 S 2026 0 1 "" esv2424547 13 97302813 97303897 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227924 S 1 1 0 "" NA18507 nsv520380 13 97321467 97330758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697382 S 2026 0 1 "" nsv456084 13 97325440 97339220 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533489 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00882 esv1009484 13 97327636 97331374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564848 S 3 0 1 "" HuRef dgv44e180 13 97327737 97331134 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv987624,esv1007457 M 3 0 1 "" HuRef esv28205 13 97327968 97330991 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17509 S 451 0 2 "" NA12004,NA12239 esv2421974 13 97328125 97330758 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5151880,essv5136739,essv5103888,essv5012239,essv5044928,essv5045040,essv5003766,essv5141626,essv5145288,essv5006256,essv5128053,essv5106682,essv5047385,essv5132334,essv5041584,essv5016761,essv5059920,essv5025984,essv5062967 M 1184 0 19 "" NA07435,NA11831,NA11918,NA12239,NA12283,NA12801,NA12812,NA12829,NA12830,NA12874,NA12892,NA20301,NA20512,NA20524,NA20540,NA20758,NA20772,NA20774,NA21105 nsv818990 13 97328242 97330758 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416093,nssv1418400,nssv1416095,nssv1416186,nssv1415787 M 112 0 5 "" NA12239,NA12801,NA12812,NA12874,NA12892 nsv516118 13 97328242 97334864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689451,nssv680552,nssv689787,nssv682257,nssv655991,nssv653818,nssv680643,nssv675107,nssv673277,nssv655230,nssv688001,nssv658472,nssv670199,nssv672982,nssv677188,nssv668098,nssv668699,nssv661100,nssv669706,nssv665664,nssv691829,nssv685903,nssv668129,nssv683739,nssv654423,nssv692253,nssv660751,nssv693351,nssv676655,nssv656457,nssv655028,nssv659818,nssv673502,nssv677446,nssv691937,nssv671393,nssv662598,nssv670552,nssv668420,nssv669401,nssv652519 M 2026 0 41 "" nsv523423 13 97365641 97367376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699177 S 2026 0 1 "" esv1006772 13 97404832 97406759 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564487 S 3 1 0 IPO5 HuRef esv24236 13 97426603 97428564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10564,esv13419 M 451 0 3 IPO5 NA12156,NA12749,NA19257 esv2489700 13 97513443 97514522 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387877 S 1 1 0 "" NA18507 esv2454238 13 97518466 97520032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275315 S 1 0 1 "" NA18507 esv2293432 13 97519055 97519743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855378 S 1 0 1 "" NA18507 esv1385339 13 97519251 97519571 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033956 S 2 0 1 "" HuRef esv268275 13 97532873 97532958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516798,essv2514183,essv2518538,essv2516503,essv2515599,essv2515983,essv2514289,essv2517668,essv2516200,essv2516928 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12287,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892 esv273363 13 97532877 97533221 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581942,essv2582505,essv2583212 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1089168 13 97532915 97532915 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186599 S 2 1 0 "" HuRef esv2751157 13 97539314 97597584 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989821,essv6983585 M 771 0 1 FARP1 BEC_670 nsv437171 13 97551462 97560454 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467052 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv456086 13 97553495 97569539 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533491 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01254 esv27463 13 97592718 97594370 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18781 S 451 0 4 FARP1 NA07045,NA12156,NA19190,NA19257 esv269505 13 97601276 97601614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516715,essv2519237,essv2517543,essv2514999,essv2515778,essv2514243 M 157 6 0 Samples from several populations that are part of the HapMap project. FARP1 NA11881,NA11894,NA11918,NA12812,NA12815,NA12874 esv2642055 13 97648500 97649567 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337292 S 1 1 0 FARP1 NA18507 nsv456087 13 97676809 97712694 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533492 S 1557 0 1 FARP1 1780862093_A nsv528803 13 97686627 97720817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705477 S 2026 0 1 FARP1 nsv818991 13 97711062 97740231 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417930,nssv1417929 M 112 0 2 FARP1 NA18852,NA18854 esv34957 13 97712694 97740200 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988258,essv6979861 M 771 0 1 FARP1 NA18854 dgv585e1 13 97712694 97753390 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1193,essv8497 M 271 0 0 FARP1 NA18854 nsv900942 13 97714144 97760595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537218 S 6533 0 1 FARP1 MS13114 esv2568558 13 97727707 97728695 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373868 S 1 1 0 FARP1 NA18507 nsv471172 13 97753390 97982060 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545465 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FARP1,STK24 HGDP01081 nsv456088 13 97753790 98006567 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533493 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FARP1,STK24 HGDP01081 nsv510359 13 97757744 97763744 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618393,nssv621406,nssv624154 M 4 0 3 FARP1 CHM,NA15510,NA18994 nsv832695 13 97838041 98032793 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450446 S 95 0 1 FARP1,STK24 nsv509511 13 97864194 97942718 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619636 S 4 1 0 FARP1,STK24 NA10860 nsv900943 13 97879526 97898475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530771 S 6533 0 1 FARP1 MS10311 dgv1782n71 13 97883523 97897339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900944,nsv900945 M 6533 0 2 FARP1 MS10769,MS18276 nsv517409 13 97887157 97913518 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689645,nssv651934,nssv688464,nssv696029,nssv668306,nssv655062,nssv679894,nssv659415,nssv701177,nssv675599,nssv694284 M 2026 1 10 FARP1,STK24 esv988052 13 97894131 97894131 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577111 S 3 1 0 FARP1 HuRef esv1283656 13 97894132 97894132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197971 S 2 1 0 FARP1 HuRef nsv1141 13 97906454 97939142 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1164 S 9 1 0 STK24 NA19240 nsv513394 13 97923068 97923567 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625790 S 1 1 0 STK24 1 esv1791098 13 97923530 97923530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612038 S 2 1 0 STK24 HuRef nsv456089 13 97967428 98046312 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533494 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STK24 HGDP01287 nsv1142 13 97976560 98011074 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1165 S 9 1 0 STK24 NA19240 esv26178 13 98026372 98027955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15454 S 451 0 2 STK24 NA07045,NA12749 nsv1144 13 98029663 98062754 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4084,nssv2050 M 9 0 2 "" NA12878,NA18555 nsv510621 13 98030700 98075425 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620068,nssv622677 M 4 0 2 "" NA15510,NA18994 esv272065 13 98047354 98047439 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515428 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv435646 13 98051436 98057130 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466749 S 2 0 1 "" NA15510 esv7113 13 98052114 98056522 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29554 S 1 0 1 "" SJK esv1472262 13 98052224 98054412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887369 S 2 0 1 "" HuRef esv993414 13 98052256 98056583 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565211 S 3 0 1 "" HuRef esv27492 13 98052424 98055249 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21225 S 451 32 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821234 13 98052424 98056553 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421056 S 1 0 1 "" NA10851 nsv514716 13 98052704 98054904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628195 S 1414 0 1 "" esv1464093 13 98055995 98056525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156948 S 2 0 1 "" HuRef nsv527303 13 98064782 98117502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703721 S 2026 0 1 "" esv2517051 13 98076025 98077129 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370702 S 1 1 0 "" NA18507 nsv64073 13 98104160 98104222 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82651 M 24 "" nsv826754 13 98111894 98113716 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425290 S 31 0 1 "" AK2 nsv518082 13 98115514 98134291 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695495 S 2026 1 0 SLC15A1 esv2333500 13 98128244 98128654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659056 S 1 0 1 "" NA18507 nsv900946 13 98176744 98220386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531548 S 6533 0 1 SLC15A1 MS10544 esv270394 13 98331090 98331175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518974 S 157 1 0 Samples from several populations that are part of the HapMap project. DOCK9 NA19141 esv2108331 13 98421539 98422016 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865781 S 1 0 1 DOCK9 NA18507 nsv826755 13 98429039 98429637 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429296 S 31 0 1 DOCK9 NA18968 esv1956817 13 98476071 98476563 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837245 S 1 0 1 DOCK9 NA18507 esv3791 13 98476214 98476441 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26232 S 1 0 1 Single Asian sample YH DOCK9 YH esv2492957 13 98476274 98476360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188888 S 1 0 1 DOCK9 NA18507 esv1155114 13 98476281 98476368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695697 S 2 0 1 DOCK9 HuRef esv27384 13 98536376 98537916 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13051 S 451 0 1 DOCK9 NA12156 esv2588378 13 98562385 98563387 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172086 S 1 1 0 "" NA18507 esv268158 13 98562977 98563309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526208,essv2522724,essv2523124,essv2570721,essv2548304,essv2521485,essv2550755,essv2525276,essv2535137,essv2554114,essv2544483,essv2520702,essv2547433,essv2577787,essv2576237,essv2564050,essv2562036,essv2537528,essv2528534,essv2546832,essv2520926,essv2557558,essv2552354,essv2551648,essv2532448,essv2562777,essv2569534,essv2578814,essv2550201,essv2536835,essv2527171,essv2552950,essv2561303,essv2549490,essv2519630,essv2566214,essv2530950,essv2532728,essv2528808,essv2567385,essv2541868,essv2535559,essv2566739,essv2542194,essv2569126,essv2543679,essv2556316,essv2562519,essv2539449,essv2529946,essv2527627,essv2556126,essv2522360,essv2531656,essv2571990,essv2529710,essv2575426,essv2575237,essv2526501,essv2560931,essv2574878,essv2572765,essv2568790,essv2548115,essv2549814,essv2571546,essv2545944,essv2574337,essv2551520,essv2554357,essv2563210 M 157 71 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA11918,NA11931,NA12004,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12717,NA12761,NA12814,NA12828,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18522,NA18542,NA18562,NA18564,NA18566,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18608,NA18853,NA18856,NA18861,NA18870,NA18871,NA18909,NA18912,NA18949,NA18952,NA18956,NA18960,NA18961,NA18973,NA19093,NA19099,NA19102,NA19114,NA19137,NA19138,NA19143,NA19147,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272793 13 98562977 98563309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581840,essv2582422,essv2583065,essv2584298,essv2584742,essv2583541 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv456091 13 98572725 98627312 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533495 S 1557 0 1 "" 1780862015_A nsv523519 13 98693966 98708323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699292 S 2026 0 1 GPR18,UBAC2 nsv521902 13 98781320 98787539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694673 S 2026 0 1 UBAC2 dgv1783n71 13 98831890 98890004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900948,nsv900947 M 6533 0 2 UBAC2 MS10311,MS17208 esv8421 13 98832530 98833757 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30862 S 1 0 0 UBAC2 SJK nsv1145 13 98849297 98865234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2909 S 9 1 0 "" NA18555 nsv456092 13 98871666 98891132 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533496 S 1557 0 1 "" 1780854483_A esv2637065 13 98880026 98880974 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298587 S 1 1 0 "" NA18507 esv270296 13 98880590 98880929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514656,essv2516753,essv2517523,essv2516942,essv2514094,essv2515391,essv2518605,essv2515108,essv2516561,essv2518019,essv2515906,essv2514264,essv2517675,essv2516225,essv2516857,essv2517231,essv2519027,essv2515220,essv2518943,essv2519384,essv2513741 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA11918,NA11931,NA12043,NA12249,NA12287,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141,NA19238,NA19239 esv272497 13 98880599 98880926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582053,essv2582267,essv2582948,essv2584342,essv2584810 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 esv1164001 13 98880628 98880628 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848074 S 2 1 0 "" HuRef nsv527215 13 98890004 98891132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703615 S 2026 0 1 "" nsv900949 13 98895286 98915279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554345 S 6533 1 0 "" MS20741 esv34003 13 98901377 99086958 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CLYBL,TM9SF2 nsv510934 13 98979560 99013258 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621623 S 4 0 0 TM9SF2 NA15510 nsv528508 13 99022296 99022644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705115 S 2026 0 1 "" nsv519296 13 99025469 99027477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656247,nssv655231,nssv672655 M 2026 0 3 "" nsv832696 13 99117594 99280237 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450447 S 95 1 0 CLYBL nsv510360 13 99238422 99244422 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622240 S 4 0 1 CLYBL NA10860 nsv821675 13 99240885 99282297 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421251 S 31 0 1 CLYBL dgv345n67 13 99358697 99483644 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826756,nsv826758 M 31 2 0 ZIC2,ZIC5 NA18552,NA18973 esv996074 13 99361215 99361836 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587212 S 3 0 1 "" HuRef nsv826757 13 99376980 99478284 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435381 S 31 0 1 ZIC2,ZIC5 NA18942 nsv832697 13 99386509 99560047 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450448 S 95 0 1 PCCA,ZIC2,ZIC5 nsv510622 13 99392591 99489866 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622678 S 4 0 1 ZIC2,ZIC5 NA18994 dgv346n67 13 99398839 99472297 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826760,nsv826761,nsv826759 M 31 3 0 ZIC2,ZIC5 NA18542,NA18949,NA18968 nsv900950 13 99399328 99458095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510064 S 6533 0 1 ZIC2,ZIC5 SP54956 dgv347n67 13 99403907 99455271 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826765,nsv826763,nsv826762 M 31 3 0 ZIC2,ZIC5 AK10,AK12,AK18 dgv1784n71 13 99408832 99452742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900953,nsv900951,nsv900952 M 6533 0 4 ZIC2,ZIC5 SP51109,SP54593,SP54725,SP55021 nsv826766 13 99411654 99445717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427022 S 31 1 0 ZIC2,ZIC5 AK6 nsv456093 13 99415306 99464634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533497 S 1557 0 1 ZIC2,ZIC5 1780862100_A dgv1785n71 13 99422575 99452742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900954,nsv900955 M 6533 0 2 ZIC2 SP54988,SP56223 nsv1146 13 99423956 99468838 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9154 S 9 0 1 ZIC2 NA12156 esv24692 13 99435890 99436359 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19483 S 451 1 0 ZIC2 NA12044 nsv509512 13 99489866 99559875 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620991,nssv619637 M 4 2 0 PCCA NA10860,NA15510 esv995962 13 99508398 99512696 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564130 S 3 1 0 "" HuRef nsv513395 13 99509145 99509342 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625792 S 1 1 0 "" 1 nsv832698 13 99518944 99688890 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450449 S 95 0 1 PCCA esv22911 13 99536216 99538368 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20067 S 451 0 1 "" NA19147 nsv900956 13 99584658 99687230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553764 S 6533 0 1 PCCA MS20286 nsv526668 13 99603798 99610856 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702998 S 2026 1 0 PCCA esv272983 13 99609241 99614236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581421 S 7 1 0 Samples from several populations that are part of the HapMap project. PCCA NA12878 esv2634464 13 99698980 99700503 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305148 S 1 0 1 PCCA NA18507 nsv7247 13 99738307 100312195 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10002 S 9 0 0 A2LD1,PCCA,TMTC4 NA18956 dgv1786n71 13 99743604 99901515 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900957,nsv900958 M 6533 0 2 PCCA MS10925,SP56783 esv2490241 13 99799127 99799192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184124 S 1 0 1 PCCA NA18507 nsv523329 13 99807455 99834029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699073 S 2026 0 1 PCCA nsv518301 13 99814518 99817629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695732 S 2026 0 1 PCCA nsv507728 13 99911888 99917888 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620552 S 4 1 0 PCCA NA15510 esv260016 13 99930028 99930478 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398634,essv2398595,essv2397529,essv2396817,essv2398662,essv2395392,essv2394725,essv2395569,essv2397626,essv2399905,essv2400652,essv2394960,essv2396524,essv2395020,essv2398416,essv2398537,essv2399937,essv2400094,essv2394606,essv2398438,essv2398222,essv2401023,essv2399311,essv2395154,essv2399512,essv2398000,essv2398700,essv2397221 M 144 0 0 Samples from several populations that are part of the HapMap project. PCCA NA06986,NA10847,NA11992,NA12155,NA12489,NA12749,NA18498,NA18501,NA18502,NA18504,NA18510,NA18511,NA18517,NA18519,NA18552,NA18562,NA18856,NA18861,NA18870,NA18871,NA18909,NA19099,NA19102,NA19108,NA19137,NA19147,NA19190,NA19225 nsv507729 13 99965038 99971038 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623153 S 4 1 0 PCCA NA18994 nsv826767 13 100004135 100009582 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427809 S 31 0 1 A2LD1 AK8 esv2119471 13 100039871 100040579 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986999 S 1 0 1 "" NA18507 esv1007692 13 100040064 100040380 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569045 S 3 0 1 "" HuRef nsv522365 13 100057428 100057953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695145 S 2026 0 1 TMTC4 nsv900959 13 100062634 100405313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561040 S 6533 1 0 TMTC4 MS24805 nsv1147 13 100129433 100174367 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9155 S 9 0 1 "" NA12156 nsv1148 13 100141809 100176450 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1166 S 9 1 0 "" NA19240 esv273652 13 100333943 100334270 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581968,essv2583105,essv2584066 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv270364 13 100333944 100334269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565846,essv2540882,essv2546514,essv2521458,essv2526055,essv2536548,essv2522788,essv2571076,essv2545549,essv2531701,essv2576561,essv2550668,essv2535155,essv2552127,essv2547529,essv2558658,essv2559677,essv2576366,essv2530814,essv2561912,essv2537442,essv2546730,essv2520734,essv2556824,essv2527335,essv2561537,essv2541177,essv2524586,essv2534672,essv2560954,essv2519785,essv2532894,essv2541672,essv2563571,essv2572521,essv2566939,essv2578300,essv2555505,essv2567288,essv2531649,essv2573489,essv2574844,essv2571165,essv2551418,essv2547842,essv2524883,essv2557883 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA07357,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11993,NA12003,NA12006,NA12154,NA12155,NA12249,NA12489,NA12717,NA12750,NA12776,NA12814,NA12873,NA12874,NA12878,NA12892,NA18498,NA18501,NA18522,NA18523,NA18545,NA18555,NA18561,NA18562,NA18566,NA18576,NA18592,NA18603,NA18609,NA18853,NA18940,NA18945,NA18947,NA18961,NA18964,NA19138,NA19238,NA19257 nsv900960 13 100334113 100404632 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556969 S 6533 1 0 "" MS22306 nsv900961 13 100334113 100559387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559781 S 6533 1 0 NALCN MS24139 nsv456094 13 100347259 100368000 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533498 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00662 nsv456095 13 100350235 100363004 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533499 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01027 esv273874 13 100375208 100375551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580549,essv2579402 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268095 13 100375211 100375296 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517068,essv2515241,essv2518373 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA19238,NA19240 nsv832699 13 100402034 100593232 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450452,nssv1450450 M 95 2 0 NALCN nsv900962 13 100410668 101065425 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556970 S 6533 1 0 ITGBL1,NALCN MS22306 nsv524376 13 100413432 100461958 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700289 S 2026 1 0 "" esv2296977 13 100423597 100424065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903365 S 1 0 1 "" NA18507 esv1419154 13 100423774 100423872 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629199 S 2 0 1 "" HuRef esv1774079 13 100427126 100427227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694092 S 2 0 1 "" HuRef esv2206104 13 100436531 100436951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830902 S 1 0 1 "" NA18507 nsv826768 13 100465892 100467068 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436992 S 31 0 1 "" NA18542 nsv1149 13 100492807 100537601 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9156 S 9 0 1 NALCN NA12156 nsv514687 13 100505552 100507648 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627126 S 1414 0 0 NALCN nsv900963 13 100510427 100606731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561041 S 6533 1 0 NALCN MS24805 esv267585 13 100549387 100549742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496716,essv2511806,essv2504281,essv2502985,essv2496224,essv2493654,essv2509045,essv2505214,essv2498467,essv2505888,essv2513467,essv2504727,essv2506950,essv2499773 M 157 14 0 Samples from several populations that are part of the HapMap project. NALCN NA18498,NA18499,NA18505,NA18507,NA18511,NA18517,NA18522,NA18853,NA18858,NA18861,NA18907,NA19099,NA19102,NA19225 nsv900964 13 100580679 100617223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553949 S 6533 0 1 NALCN MS20440 dgv1787n71 13 100590460 101065425 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv900965,nsv900966 M 6533 2 0 ITGBL1,NALCN MS24139,SP50973 nsv1150 13 100619031 100653125 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4086 S 9 1 0 NALCN NA12878 esv274989 13 100681085 100685883 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585879,essv2585243 M 1250 1 1 NALCN nsv511517 13 100689460 100694478 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626137 S 1 0 1 NALCN 1 esv1011072 13 100690366 100694526 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564624 S 3 0 1 NALCN HuRef esv2524562 13 100690968 100695209 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287088 S 1 0 1 NALCN NA18507 nsv820338 13 100691216 100694734 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421058 S 1 0 1 NALCN NA10851 nsv826769 13 100691216 100694734 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433954,nssv1431598,nssv1436147,nssv1423725,nssv1425291,nssv1440623,nssv1439249,nssv1433156,nssv1422040,nssv1439945,nssv1422912,nssv1436993,nssv1427810,nssv1434683,nssv1428613 M 31 0 15 NALCN AK10,AK18,AK2,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18972,NA18973,NA18999 esv2424310 13 100691489 100695012 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226479 S 1 0 1 NALCN NA18507 nsv512333 13 100691736 100695005 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624915 S 1 0 1 NALCN 1 esv2282833 13 100692073 100694629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4742062 S 1 0 1 NALCN NA18507 nsv64877 13 100692145 100694425 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83455 M 24 NALCN esv1093475 13 100692147 100694428 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183433 S 2 0 1 NALCN HuRef esv7952 13 100692149 100694419 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30393 S 1 0 1 NALCN SJK esv23881 13 100692149 100694523 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13005 S 451 9 15 NALCN NA06985,NA07037,NA07045,NA11931,NA11995,NA12006,NA12044,NA12156,NA12287,NA12489,NA12749,NA12828,NA15510,NA18502,NA18508,NA18517,NA18858,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19225 nsv826770 13 100692211 100694342 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429755 S 31 0 1 NALCN NA18947 nsv826771 13 100692211 100694394 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435382,nssv1441465,nssv1426092,nssv1430120,nssv1429319,nssv1435696,nssv1432384,nssv1437726 M 31 2 6 NALCN AK14,AK20,AK4,NA18592,NA18942,NA18949,NA18968,NA18969 nsv514688 13 100692408 100694416 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628196 S 1414 0 1 NALCN esv3337 13 100704906 100705329 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25778 S 1 0 1 Single Asian sample YH NALCN YH esv1761857 13 100704944 100705263 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128255 S 2 0 1 NALCN HuRef esv987666 13 100704957 100705275 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585333 S 3 0 1 NALCN HuRef nsv832700 13 100717786 100874219 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450453 S 95 1 0 NALCN nsv528744 13 100784846 100785048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705405 S 2026 0 1 NALCN nsv519642 13 100862974 100869572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696968 S 2026 0 1 NALCN nsv516078 13 100865354 100869572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666045,nssv681117 M 2026 0 2 NALCN nsv832701 13 100895774 101064357 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450454 S 95 0 1 ITGBL1 dgv1788n71 13 100958307 101011844 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900968,nsv900967 M 6533 0 2 ITGBL1 MS16361,SP51221 nsv523777 13 100973899 100974245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699600 S 2026 0 1 ITGBL1 dgv1789n71 13 100975754 101097159 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900969,nsv900971 M 6533 0 2 ITGBL1 IS38113,IS41857 nsv900970 13 100988720 101031201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512804 S 6533 0 1 ITGBL1 SP55630 nsv510361 13 101055092 101061092 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622241,nssv618394 M 4 0 2 ITGBL1 CHM,NA10860 nsv521536 13 101065425 101122218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698152 S 2026 0 1 ITGBL1 nsv832702 13 101072062 101245563 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450455 S 95 1 0 FGF14,ITGBL1 nsv1151 13 101136006 101169566 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5487 S 9 1 0 ITGBL1 NA19129 nsv456097 13 101140742 101147035 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533501 S 1557 0 1 ITGBL1 NINDS_45 nsv525759 13 101167264 101168511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701927 S 2026 1 0 "" esv270420 13 101187349 101187695 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565895,essv2575868,essv2540737,essv2546552,essv2526063,essv2542250,essv2536791,essv2571071,essv2556541,essv2568298,essv2545378,essv2570597,essv2550759,essv2550468,essv2554003,essv2544249,essv2547216,essv2558248,essv2564520,essv2577943,essv2553852,essv2576456,essv2519961,essv2564005,essv2554860,essv2544692,essv2562908,essv2523725,essv2552838,essv2540268,essv2524513,essv2534597,essv2561042,essv2539871,essv2549218,essv2519548,essv2565914,essv2532685,essv2567837,essv2563845,essv2535761,essv2559384,essv2578119,essv2572990,essv2533460,essv2555686,essv2566526,essv2557685,essv2522509,essv2531626,essv2573679,essv2543294,essv2577034,essv2536289,essv2538156,essv2548667,essv2533134,essv2524790,essv2563098,essv2557866 M 157 60 0 Samples from several populations that are part of the HapMap project. FGF14 NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11993,NA11994,NA11995,NA12003,NA12044,NA12155,NA12234,NA12287,NA12414,NA12717,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12828,NA12872,NA18526,NA18532,NA18537,NA18542,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18576,NA18577,NA18603,NA18608,NA18638,NA18940,NA18942,NA18944,NA18945,NA18948,NA18953,NA18960,NA18961,NA18964,NA18965,NA18970 esv2098077 13 101253748 101254152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526708 S 1 0 1 FGF14 NA18507 nsv826772 13 101256215 101257133 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426093 S 31 1 0 FGF14 AK4 esv259790 13 101270896 101271216 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394800,essv2400342,essv2398899,essv2396652,essv2400706,essv2397418,essv2398954,essv2395882,essv2397475,essv2400786,essv2399637,essv2394573,essv2399525 M 144 0 0 Samples from several populations that are part of the HapMap project. FGF14 NA07357,NA11881,NA11995,NA12414,NA18542,NA18566,NA18603,NA18945,NA18947,NA18952,NA18964,NA18965,NA19137 esv2451556 13 101319926 101321376 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296663 S 1 0 1 FGF14 NA18507 nsv832704 13 101362990 101508412 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450456 S 95 1 0 FGF14,MIR2681,MIR4705 nsv1152 13 101423377 101456499 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5488 S 9 1 0 FGF14 NA19129 nsv832705 13 101429291 101603301 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450457,nssv1450459,nssv1450458 M 95 3 0 FGF14,MIR4705 nsv1153 13 101440831 101486522 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6575 S 9 0 1 FGF14 NA12156 esv34672 13 101452130 101465763 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987372,essv6978314 M 771 0 1 FGF14 NA19000 nsv456098 13 101456654 101517230 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533502 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FGF14,MIR4705 HGDP00356 dgv586e1 13 101459508 101483261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2762,esv1233 M 271 0 0 FGF14 NA19000 esv9192 13 101486956 101487024 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31633 S 1 1 0 FGF14 SJK nsv832706 13 101581970 101741814 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450460 S 95 1 0 FGF14 esv1010266 13 101586910 101594155 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564428 S 3 0 1 FGF14 HuRef esv2546035 13 101587875 101589380 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279786 S 1 0 1 FGF14 NA18507 esv3231 13 101588393 101589067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25672 S 1 0 1 Single Asian sample YH FGF14 YH esv1625125 13 101588745 101589037 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122262 S 2 0 1 FGF14 HuRef nsv1155 13 101604241 101639324 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4087 S 9 1 0 FGF14 NA12878 esv2005005 13 101611739 101612223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902122 S 1 0 1 FGF14 NA18507 esv3297 13 101611851 101612103 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25738 S 1 0 1 Single Asian sample YH FGF14 YH nsv63965 13 101611917 101612033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82543 M 24 FGF14 nsv507730 13 101669312 101675312 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623154 S 4 1 0 FGF14 NA18994 nsv524907 13 101738207 101741851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700918 S 2026 0 1 FGF14 nsv819119 13 101852033 101853202 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419188 S 2 1 0 FGF14 AK1 nsv527169 13 101917220 101917288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703563 S 2026 0 1 "" nsv524419 13 101933444 101939251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700345 S 2026 0 1 "" nsv1156 13 101991750 102037034 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9157 S 9 0 1 "" NA12156 esv2306897 13 102090263 102090726 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4988502 S 1 0 1 TPP2 NA18507 nsv1157 13 102134682 102169332 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4088,nssv9955 M 9 2 0 METTL21C NA12878,NA18507 nsv519661 13 102141429 102142610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696978 S 2026 0 1 METTL21C esv1001430 13 102144405 102150326 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564619 S 3 1 0 METTL21C HuRef nsv524532 13 102148565 102150761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700482 S 2026 0 1 "" nsv522820 13 102148565 102152914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698469 S 2026 0 1 "" nsv523760 13 102152057 102152914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699580 S 2026 0 1 "" esv1453222 13 102226455 102226455 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321844 S 2 1 0 "" HuRef esv272119 13 102233887 102234042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496856,essv2498326,essv2495577,essv2503103,essv2502374,essv2500494 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18526,NA18916,NA18943,NA18948,NA18956 nsv900972 13 102294760 102344943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527573 S 6533 0 1 BIVM-ERCC5,ERCC5,LOC121952 SP58537 nsv900973 13 102337617 102354753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578385,nssv1589639 M 6533 0 2 LOC121952 IS34768,IS38390 esv25370 13 102397046 102401425 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12595 S 451 0 1 "" NA18502 nsv519731 13 102398190 102400495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657986,nssv684641,nssv679581 M 2026 0 3 "" nsv520526 13 102398190 102404830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697469 S 2026 0 1 "" esv22017 13 102481882 102499613 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11398 S 451 1 0 SLC10A2 NA11993 nsv818992 13 102483067 102495729 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415863 S 112 1 0 SLC10A2 NA11993 nsv523242 13 102483067 102500665 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698970 S 2026 1 0 SLC10A2 nsv1158 13 102502451 102539884 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9158 S 9 0 1 SLC10A2 NA12156 nsv471173 13 102511959 102515883 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545466 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC10A2 HGDP00722 nsv1159 13 102556419 102590404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9159 S 9 1 0 "" NA12156 nsv900974 13 102621520 104462560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506537 S 6533 0 1 "" SP54370 nsv900975 13 102631648 102664091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557655 S 6533 0 1 "" MS22797 nsv900976 13 102648777 102675278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587981,nssv1584178,nssv1533468,nssv1551652 M 6533 0 4 "" IS36893,IS38144,MS11194,MS18966 nsv1160 13 102680747 102706074 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2051 S 9 1 0 "" NA18555 nsv507731 13 102713063 102719063 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623155,nssv617873,nssv619121,nssv620553 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2626860 13 102728896 102730464 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348260 S 1 0 1 "" NA18507 esv2034293 13 102729450 102730149 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515088 S 1 0 1 "" NA18507 esv2447476 13 102729650 102729964 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334459 S 1 0 1 "" NA18507 esv991331 13 102729651 102729965 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577861 S 3 0 1 "" HuRef esv1555136 13 102729653 102729968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229997 S 2 0 1 "" HuRef nsv64805 13 102729654 102729968 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83383 M 24 "" nsv456099 13 102733219 102935963 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533503 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00738 esv26666 13 102783309 102793159 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17937,esv15543,esv11559,esv19472 M 451 10 0 "" NA11894,NA11931,NA12044,NA12156,NA12414,NA12828,NA18508,NA18909,NA18916,NA19099 nsv826773 13 102788996 102796556 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429330 S 31 1 0 "" NA18968 esv2567531 13 102807235 102808783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256795 S 1 0 1 "" NA18507 esv4096 13 102807667 102808299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26537 S 1 0 1 Single Asian sample YH "" YH esv2054285 13 102807669 102808376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521875 S 1 0 1 "" NA18507 esv6964 13 102807848 102808173 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29405 S 1 0 1 "" SJK nsv64087 13 102807856 102808174 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82665 M 24 "" esv988258 13 102807858 102808176 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569546 S 3 0 1 "" HuRef esv1583917 13 102807864 102808183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243382 S 2 0 1 "" HuRef nsv528665 13 102809878 102830398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705303 S 2026 0 1 "" nsv818993 13 102824275 102836403 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415594,nssv1415596 M 112 0 2 "" NA10830,NA12154 nsv900977 13 102865821 102909627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560763,nssv1559392 M 6533 0 2 "" MS23949,MS24701 nsv512334 13 102888333 102891681 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624916 S 1 0 1 "" 1 esv2475732 13 102888903 102890519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217172 S 1 0 1 "" NA18507 esv2130013 13 102889583 102890445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862767 S 1 0 1 "" NA18507 esv5039 13 102889730 102890301 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27480 S 1 0 1 Single Asian sample YH "" YH esv1000181 13 102889765 102890246 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572702 S 3 0 1 "" HuRef esv1086086 13 102889766 102890248 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228729 S 2 0 1 "" HuRef nsv64346 13 102889767 102890248 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82924 M 24 "" esv5523 13 102889771 102890263 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27964 S 1 0 1 "" SJK nsv820478 13 102889781 102890229 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421059 S 1 0 1 "" NA10851 nsv527774 13 102902377 102966614 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704264 S 2026 1 0 "" nsv522220 13 102927933 103206029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694997 S 2026 0 1 "" esv2553615 13 102933541 102935050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280608 S 1 0 1 "" NA18507 esv2583255 13 102941530 102943083 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182053 S 1 0 1 "" NA18507 esv2315786 13 102942188 102942870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743542 S 1 0 1 "" NA18507 esv4312 13 102942364 102942723 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26753 S 1 0 1 Single Asian sample YH "" YH esv1297531 13 102942391 102942674 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758718 S 2 0 1 "" HuRef nsv900978 13 102951308 103025048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561083 S 6533 0 1 "" MS24837 nsv64650 13 103006809 103006809 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83228 M 24 "" esv3498 13 103051383 103051645 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25939 S 1 0 1 Single Asian sample YH "" YH esv270525 13 103061215 103061361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496713,essv2509696,essv2506142 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18523 dgv587e1 13 103073528 103077233 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6534,essv6792 M 271 0 0 "" NA18594,NA18611 dgv588e1 13 103073528 103079107 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1685,essv1571,essv3595,esv958 M 271 0 0 "" NA18969,NA18992,NA18997 esv2421615 13 103073812 103077233 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5139099,essv5077360,essv5076476,essv5067376,essv5101717,essv5050016,essv5059844,essv5131478,essv5031370,essv5111645,essv5042426,essv5149993,essv5065111,essv5090501,essv5124429,essv5076477,essv5041695,essv5085118,essv5080098,essv5157235,essv5077117,essv5065151,essv5127485,essv5149372,essv5010854,essv5025352,essv5030650,essv5108255,essv5101419,essv5074027 M 1184 0 30 "" NA17966,NA17977,NA17981,NA17987,NA18138,NA18162,NA18529,NA18545,NA18572,NA18594,NA18610,NA18611,NA18638,NA18645,NA18670,NA18757,NA18940,NA18953,NA18956,NA18962,NA18969,NA18974,NA18997,NA19054,NA19059,NA19714,NA20849,NA20897,NA21092,NA21106 nsv9099 13 103074622 103077364 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19309 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv826774 13 103074696 103077172 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422128,nssv1441466 M 31 0 2 "" NA18969,NA18997 nsv442677 13 103074861 103076411 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514689 13 103074896 103076112 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628197 S 1414 0 1 "" essv2560 13 103075333 103079107 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18974 nsv1161 13 103088293 103119713 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2052 S 9 1 0 "" NA18555 esv2601662 13 103094054 103094570 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177517 S 1 1 0 "" NA18507 nsv513396 13 103094163 103094462 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625793 S 1 1 0 "" 1 esv1767126 13 103094239 103094239 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816321 S 2 1 0 "" HuRef nsv900979 13 103134928 103170969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532690,nssv1579871 M 6533 0 2 "" IS35181,MS10802 nsv526054 13 103143536 103150253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702291 S 2026 0 1 "" nsv523518 13 103143536 103155023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699291 S 2026 0 1 "" nsv820311 13 103177798 103180671 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419487 S 2 1 0 "" AK1 esv34417 13 103201000 103223000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990287,essv6978805 M 771 1 0 "" NA12707 dgv589e1 13 103201047 103222979 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv892,essv24949 M 271 0 0 "" NA12707 nsv832707 13 103215124 103415580 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450461 S 95 1 0 "" dgv118n21 13 103326843 103329369 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522528,nsv523710 M 2026 0 2 "" nsv900980 13 103339702 103367246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576051 S 6533 0 1 "" IS33864 esv269676 13 103356063 103356413 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508020,essv2503388,essv2505050,essv2508870,essv2502791,essv2496709,essv2496485,essv2497130,essv2500050,essv2500133,essv2507486,essv2505291,essv2495671,essv2493893,essv2501778,essv2495040 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12003,NA12716,NA12828,NA12878,NA12892,NA18498,NA18510,NA18552,NA18558,NA18573,NA18638,NA18853,NA18916,NA19210,NA19239 esv274647 13 103356070 103356406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582066,essv2583251,essv2584556 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 nsv1162 13 103372502 103416954 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4632 S 9 0 1 "" NA19129 nsv523203 13 103395052 103407780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698923 S 2026 0 1 "" esv26351 13 103404316 103405655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12387 S 451 0 2 "" NA18858,NA19225 nsv826776 13 103415101 103416921 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426094 S 31 0 1 "" AK4 nsv900981 13 103434612 103545824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517548 S 6533 0 1 "" SP57314 nsv900982 13 103444512 103494695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501376,nssv1506867 M 6533 0 2 "" SP51051,SP54409 nsv900983 13 103527970 104104426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599201 S 6533 1 0 "" IS41433 nsv826777 13 103538877 103539444 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426095 S 31 1 0 "" AK4 nsv436172 13 103605412 103610830 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466751 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv27728 13 103605582 103607912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14579 S 451 0 2 "" NA18907,NA18909 esv1002140 13 103680774 103682074 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563965 S 3 0 1 "" HuRef nsv64301 13 103681093 103681819 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82879 M 24 "" esv1736776 13 103688918 103689093 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935843 S 2 0 1 "" HuRef nsv513397 13 103695183 103695546 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625794 S 1 1 0 "" 1 esv1418615 13 103695322 103695322 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831469 S 2 1 0 "" HuRef nsv1163 13 103769570 103780981 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9160 S 9 0 1 "" NA12156 dgv590e1 13 103783832 103787454 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1231,essv7642 M 271 0 0 "" NA18632 nsv9100 13 103788903 103790507 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20012 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 nsv900984 13 103804576 103855994 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522942 S 6533 1 0 "" SP53515 nsv521724 13 103817940 103820221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694484 S 2026 0 1 "" nsv520159 13 103829770 103834862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697254 S 2026 0 1 "" esv22763 13 103883892 103884407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12081 S 451 0 1 "" NA18861 nsv524080 13 103924217 103953143 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699949 S 2026 1 0 "" nsv64430 13 103929185 103929185 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83008 M 24 "" esv2625043 13 103958883 103960529 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319747 S 1 0 1 "" NA18507 esv2270804 13 103959030 103959730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520627 S 1 0 1 "" NA18507 esv4880 13 103959184 103959665 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27321 S 1 0 1 Single Asian sample YH "" YH esv1761470 13 103959210 103959524 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939476 S 2 0 1 "" HuRef esv9549 13 103959224 103959527 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31990 S 1 0 1 "" SJK esv2478484 13 103974233 103975785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311797 S 1 0 1 "" NA18507 esv2198749 13 103975313 103975655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636759 S 1 0 1 "" NA18507 nsv64995 13 103975944 103975944 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83573 M 24 "" esv1756401 13 104015123 104015123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632524 S 2 1 0 "" HuRef nsv900985 13 104127469 104287868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599202 S 6533 1 0 "" IS41433 nsv1164 13 104197356 104242275 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9161 S 9 0 1 "" NA12156 nsv526744 13 104222547 104245314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703088 S 2026 0 1 "" nsv456100 13 104222547 104249902 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533504 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01364 nsv471174 13 104222547 104255283 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545467 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01364 nsv832708 13 104225552 104393088 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450463 S 95 0 1 "" nsv832709 13 104276349 104322709 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450464 S 95 0 1 "" nsv900986 13 104295267 104340355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575947 S 6533 0 1 "" IS33839 nsv471175 13 104303225 104354019 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545468 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 nsv510362 13 104400567 104406567 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624155 S 4 0 1 "" NA18994 dgv591e1 13 104418323 104585016 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20343,esv795 M 271 0 0 "" NA12236 nsv818994 13 104466548 104537409 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415597 S 112 1 0 "" NA12236 essv19716 13 104466931 104540789 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12236 esv34774 13 104466931 104545000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978765,essv6978764,essv6978763,essv6986699 M 771 1 0 "" NA12236 nsv900987 13 104482044 104626627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538098 S 6533 0 1 "" MS13480 esv2599085 13 104505622 104507150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182922 S 1 0 1 "" NA18507 esv2168778 13 104505920 104506634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700109 S 1 0 1 "" NA18507 esv4545 13 104506045 104506486 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26986 S 1 0 1 Single Asian sample YH "" YH esv8852 13 104506101 104506432 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31293 S 1 0 1 "" SJK esv274236 13 104512895 104513225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580659,essv2579573 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271219 13 104512920 104513231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558168,essv2565728,essv2540850,essv2526273,essv2542568,essv2536758,essv2522760,essv2556715,essv2523135,essv2577388,essv2570504,essv2548235,essv2521628,essv2550798,essv2525375,essv2535291,essv2554237,essv2552051,essv2520415,essv2529207,essv2558430,essv2564531,essv2578056,essv2559511,essv2554863,essv2562101,essv2537657,essv2528578,essv2540102,essv2520852,essv2557456,essv2556885,essv2532205,essv2562602,essv2569437,essv2578703,essv2550203,essv2536924,essv2539200,essv2527315,essv2561474,essv2544996,essv2562969,essv2523600,essv2552791,essv2541192,essv2538340,essv2542916,essv2540590,essv2524517,essv2564879,essv2534590,essv2560982,essv2539881,essv2549214,essv2519850,essv2559847,essv2522302,essv2566136,essv2531120,essv2532790,essv2567812,essv2528777,essv2567617,essv2541532,essv2570067,essv2563613,essv2553385,essv2535626,essv2572610,essv2559404,essv2566877,essv2551171,essv2568842,essv2543534,essv2556320,essv2527887,essv2562331,essv2534100,essv2578314,essv2572998,essv2533467,essv2555499,essv2567098,essv2566637,essv2530008,essv2573975,essv2527640,essv2555979,essv2534310,essv2531527,essv2573552,essv2543362,essv2571970,essv2525560,essv2529611,essv2575660,essv2575160,essv2538599,essv2526420,essv2560707,essv2524167,essv2560837,essv2574956,essv2530346,essv2572707,essv2568761,essv2560290,essv2549636,essv2571550,essv2545727,essv2574174,essv2551540,essv2535939,essv2538082,essv2548701,essv2533203,essv2554534,essv2548046,essv2525061,essv2563410 M 157 121 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11918,NA11919,NA11920,NA11931,NA11994,NA12004,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12872,NA12874,NA12878,NA12891,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 dgv1790n71 13 104518094 104589639 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv900988,nsv900989 M 6533 0 2 "" IS30171,SP54792 esv270653 13 104521421 104521736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510964,essv2511712,essv2510545,essv2496180,essv2494780,essv2508987,essv2501068,essv2507144,essv2513529,essv2501484,essv2504632,essv2510858 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA18499,NA18501,NA18511,NA18519,NA18522,NA18856,NA18870,NA18907,NA19093,NA19099,NA19116 esv992512 13 104525059 104530531 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586214 S 3 0 1 "" HuRef esv1003346 13 104526559 104527930 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586998 S 3 0 1 "" HuRef nsv9101 13 104532375 104545329 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20816 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 esv28893 13 104535067 104537409 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15014,esv11226 M 451 0 3 "" NA12044,NA12414,NA12776 nsv456101 13 104576218 104635900 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533505 S 1557 1 0 "" 1780862085_A nsv9104 13 104579321 104581744 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24364 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 esv22110 13 104580590 104582677 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12271,esv14987 M 451 4 0 "" NA12828,NA18909,NA19190,NA19240 nsv900990 13 104594195 104662114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546226 S 6533 0 1 "" MS17114 nsv520637 13 104626627 104635900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697531 S 2026 0 1 "" nsv1166 13 104642519 104674866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2053 S 9 1 0 "" NA18555 nsv520687 13 104643603 104652441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674081,nssv679274 M 2026 0 2 "" esv267482 13 104701571 104701916 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504293,essv2509736,essv2510025 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18508,NA18593 nsv520752 13 104725948 104727263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684861,nssv674999 M 2026 0 2 "" nsv516195 13 104752139 104753643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668612,nssv674363,nssv657548,nssv691621,nssv676194,nssv661977,nssv676254,nssv675403,nssv682837,nssv681925,nssv693777,nssv666714,nssv690528 M 2026 0 13 "" nsv1167 13 104768511 104801832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1167 S 9 1 0 "" NA19240 nsv900991 13 104808852 104883023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579872 S 6533 0 1 "" IS35181 esv1282846 13 104832707 104833016 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306677 S 2 0 1 "" HuRef nsv519018 13 104917447 104924309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696488 S 2026 0 1 DAOA,DAOA-AS1 esv275034 13 104929139 104931159 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585841,essv2585769 M 1250 1 1 DAOA,DAOA-AS1 nsv1168 13 104949379 104983582 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2910 S 9 1 0 DAOA-AS1 NA18555 nsv524222 13 104954707 104995067 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700110 S 2026 0 1 DAOA-AS1 esv1242036 13 104969424 104969424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057941 S 2 1 0 "" HuRef nsv471176 13 105017664 105102225 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545469 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00867 dgv239n27 13 105031002 105105350 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456109,nsv456104,nsv456106,nsv456102,nsv456103,nsv456105 M 1557 0 6 "" HGDP00862,HGDP00868,HGDP01001,HGDP01003,HGDP01012,HGDP01015 esv2020771 13 105047945 105048456 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870430 S 1 0 1 "" NA18507 esv4488 13 105048092 105048498 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26929 S 1 0 1 Single Asian sample YH "" YH esv25981 13 105048146 105048596 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11216 S 451 2 0 "" NA12004,NA18909 nsv821329 13 105048146 105048596 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421060 S 1 0 1 "" NA10851 esv1010769 13 105048220 105048369 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581022 S 3 0 1 "" HuRef esv1710950 13 105095135 105095135 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097978 S 2 1 0 "" HuRef esv1288095 13 105095162 105095162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857190 S 2 1 0 "" HuRef nsv826778 13 105148705 105154250 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434684 S 31 0 1 "" NA18570 esv29607 13 105171894 105175761 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18253,esv11041 M 451 3 0 "" NA06985,NA12776,NA19147 nsv1169 13 105186099 105253616 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9297 S 9 0 1 "" NA18517 nsv525061 13 105199403 105202838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701113 S 2026 0 1 "" nsv832710 13 105217625 105382007 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450465,nssv1450466 M 95 0 2 "" dgv17n50 13 105246771 105249939 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511527,nsv512335 M 1 0 1 "" 1 nsv826779 13 105247287 105247897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422913,nssv1433157,nssv1430887,nssv1437727 M 31 0 4 "" AK16,NA18552,NA18949,NA18972 esv21651 13 105247361 105247931 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10850 S 451 0 13 "" NA11993,NA12004,NA12044,NA12239,NA12287,NA12749,NA12828,NA18508,NA18517,NA19108,NA19114,NA19147,NA19190 nsv516513 13 105289737 105295988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673920,nssv668772 M 2026 0 2 "" nsv64251 13 105290834 105294539 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82829 M 24 "" nsv1170 13 105343797 105379132 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4089 S 9 1 0 "" NA12878 esv28671 13 105434987 105435467 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17995 S 451 1 0 "" NA12489 esv9196 13 105439217 105439324 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31637 S 1 1 0 "" SJK esv1921322 13 105448847 105449165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889056 S 1 0 1 "" NA18507 nsv521889 13 105578098 105579259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694661 S 2026 0 1 "" nsv1171 13 105687161 105701370 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2054 S 9 0 1 "" NA18555 nsv522082 13 105711482 105714789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694856 S 2026 0 1 "" esv259541 13 105844815 105845080 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394162,essv2393848,essv2394030,essv2394282 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv259992 13 105844816 105845088 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400234,essv2400884,essv2395775,essv2397553,essv2398077,essv2399403,essv2397337,essv2396916,essv2395640,essv2396500,essv2396848,essv2400093,essv2394634,essv2394455,essv2395901,essv2398170,essv2397100,essv2400795,essv2397745,essv2399758,essv2396403,essv2397051,essv2400496 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11993,NA12004,NA12044,NA12144,NA12287,NA12878,NA12892,NA18501,NA18517,NA18638,NA18861,NA18870,NA18943,NA18945,NA18949,NA18951,NA18952,NA18956,NA19129,NA19138,NA19239,NA19240 nsv900992 13 105863144 105909091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565418 S 6533 0 1 "" IS30412 esv6589 13 105867577 105867674 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29030 S 1 1 0 "" SJK esv21748 13 105884693 105886643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19130 S 451 0 1 "" NA19114 esv7698 13 105914838 105914953 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30139 S 1 1 0 "" SJK esv26821 13 105985434 105986849 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16930 S 451 0 1 "" NA19190 nsv1172 13 106011236 106045070 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1168 S 9 1 0 ARGLU1 NA19240 esv1924535 13 106020642 106021107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661153 S 1 0 1 "" NA18507 nsv518553 13 106027799 106037715 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695996 S 2026 1 0 "" nsv832711 13 106115854 106278034 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450467 S 95 1 0 "" nsv900993 13 106154024 106220677 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597028 S 6533 1 0 "" IS40707 esv34077 13 106182239 106646078 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FAM155A nsv524956 13 106184121 107025880 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700977 S 2026 1 0 FAM155A nsv1173 13 106209566 106251835 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2911,nssv4090,nssv10003,nssv9162 M 9 4 0 "" NA12156,NA12878,NA18555,NA18956 nsv509514 13 106211061 106249101 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623651,nssv620993,nssv619638 M 4 3 0 "" NA10860,NA15510,NA18994 nsv826780 13 106228051 106235067 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437728 S 31 1 0 "" NA18949 nsv832712 13 106278038 106454994 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450469,nssv1450468 M 95 0 2 "" nsv510363 13 106404598 106410598 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618395,nssv622242 M 4 0 2 "" CHM,NA10860 nsv1174 13 106415066 106448745 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9163 S 9 1 0 "" NA12156 nsv1175 13 106483907 106498590 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10004 S 9 1 0 "" NA18956 nsv826781 13 106655099 106657701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433158 S 31 1 0 FAM155A NA18972 nsv528262 13 106669967 106696750 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704829 S 2026 1 0 FAM155A esv34169 13 106682510 106718737 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FAM155A nsv900994 13 106683802 106869939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520965 S 6533 0 1 FAM155A SP51350 nsv510623 13 106703436 106780731 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618907 S 4 0 1 FAM155A NA10860 esv2281615 13 106708962 106709375 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546221 S 1 0 1 FAM155A NA18507 esv2583398 13 106722013 106723707 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304840 S 1 0 1 FAM155A NA18507 esv2242891 13 106722354 106723079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729442 S 1 0 1 FAM155A NA18507 esv6504 13 106722541 106722871 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28945 S 1 0 1 FAM155A SJK esv988148 13 106722542 106722864 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583484 S 3 0 1 FAM155A HuRef esv1148527 13 106722550 106722873 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179522 S 2 0 1 FAM155A HuRef esv2751127 13 106799000 106871000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989715,essv6982996,essv6989338 M 771 0 1 FAM155A BEC_532 nsv900995 13 106828307 107214682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551168,nssv1547202,nssv1550621 M 6533 0 3 FAM155A MS17232,MS18494,MS18819 nsv64265 13 106853568 106861650 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82843 M 24 FAM155A nsv900996 13 106886756 106922322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505505 S 6533 0 1 FAM155A SP53583 nsv900997 13 106909000 106973411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526741 S 6533 0 1 FAM155A SP57742 esv2481264 13 106943613 106945157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350023 S 1 0 1 FAM155A NA18507 esv1931581 13 106944212 106944764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706827 S 1 0 1 FAM155A NA18507 nsv900998 13 106952456 106990121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542923 S 6533 0 1 FAM155A MS15952 nsv527392 13 106960600 106990121 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703827 S 2026 1 0 FAM155A nsv832713 13 106964760 107138743 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450470 S 95 1 0 FAM155A esv271863 13 106982522 106982607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516368 S 157 1 0 Samples from several populations that are part of the HapMap project. FAM155A NA12814 nsv519927 13 107031742 107046046 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697131 S 2026 1 0 FAM155A nsv510364 13 107059736 107065736 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624156 S 4 0 1 FAM155A NA18994 dgv592e1 13 107090320 107274703 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7859,esv515,essv7706,essv12613 M 271 0 0 FAM155A NA18500,NA18558,NA18633 essv6053 13 107093227 107130924 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM155A NA18603 esv2069021 13 107130889 107131218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874488 S 1 0 1 FAM155A NA18507 esv2139400 13 107131076 107131389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843108 S 1 0 1 FAM155A NA18507 nsv900999 13 107168844 107248955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589221 S 6533 0 1 FAM155A IS38322 nsv516705 13 107214682 107215219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670281,nssv678937 M 2026 0 2 FAM155A esv998714 13 107263329 107270189 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564369 S 3 0 1 FAM155A HuRef nsv456110 13 107267825 107280986 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533514 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM155A HGDP00964 esv274221 13 107272365 107272450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581287 S 7 1 0 Samples from several populations that are part of the HapMap project. FAM155A NA19240 nsv901000 13 107279883 107305575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505404 S 6533 0 1 FAM155A SP53458 nsv832715 13 107309198 107481871 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450471,nssv1450472,nssv1450475,nssv1450474 M 95 0 4 FAM155A esv1662046 13 107337742 107337742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937487 S 2 1 0 "" HuRef esv29659 13 107338708 107359369 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19060,esv14470,esv19117 M 451 20 1 "" NA07037,NA11894,NA11931,NA12004,NA12044,NA12239,NA12489,NA12749,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 esv2626971 13 107357960 107360038 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369690 S 1 0 1 "" NA18507 nsv826782 13 107358322 107359715 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436994,nssv1422914,nssv1422129,nssv1440624,nssv1433955,nssv1429369,nssv1427023,nssv1435707,nssv1426096,nssv1430121,nssv1429767,nssv1430888,nssv1432386,nssv1428614,nssv1425292,nssv1437730 M 31 0 16 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK6,NA18526,NA18542,NA18552,NA18564,NA18592,NA18947,NA18949,NA18997 nsv821484 13 107358376 107359715 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421061 S 1 0 1 "" NA10851 nsv826783 13 107358546 107359512 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431599,nssv1436148,nssv1427811 M 31 0 3 "" AK18,AK8,NA18566 nsv526646 13 107423939 107431712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702972 S 2026 0 1 "" nsv523829 13 107458063 107469565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699660 S 2026 0 1 "" esv269435 13 107466995 107467328 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540998,essv2526128,essv2522996,essv2543871,essv2570975,essv2556506,essv2568242,essv2570449,essv2548595,essv2525306,essv2550285,essv2554096,essv2552158,essv2577997,essv2565231,essv2564128,essv2555089,essv2562040,essv2537539,essv2528564,essv2546727,essv2532212,essv2544887,essv2523808,essv2552805,essv2542833,essv2540560,essv2524653,essv2534636,essv2539751,essv2549554,essv2519784,essv2566099,essv2531233,essv2532724,essv2528768,essv2541827,essv2563655,essv2572486,essv2559200,essv2578261,essv2555902,essv2522372,essv2531521,essv2573464,essv2543359,essv2526823,essv2538074,essv2548870,essv2547679 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07347,NA11831,NA11918,NA11931,NA11992,NA11993,NA11994,NA11995,NA12044,NA12045,NA12156,NA12234,NA12287,NA12489,NA12761,NA12812,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18505,NA18526,NA18537,NA18542,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18579,NA18592,NA18603,NA18609,NA18638,NA18940,NA18956,NA18960,NA18961,NA18964,NA18965,NA19005 esv274299 13 107466996 107467327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582007,essv2582343,essv2583226 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv1177 13 107471848 107505402 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1169 S 9 1 0 "" NA19240 esv1635986 13 107493343 107493343 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043312 S 2 1 0 "" HuRef esv8412 13 107497945 107498039 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30853 S 1 1 0 "" SJK nsv507732 13 107506813 107512813 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623156,nssv619122 M 4 2 0 "" NA10860,NA18994 esv269136 13 107517787 107518129 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519329,essv2516315,essv2515608,essv2517909,essv2516014,essv2514447 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12814,NA12815,NA12872,NA12873,NA12874 esv1648414 13 107517819 107517819 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049613 S 2 1 0 "" HuRef nsv520624 13 107530553 107547068 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686804,nssv673304 M 2026 0 2 "" nsv510365 13 107540375 107546375 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621407 S 4 0 1 "" NA15510 nsv901001 13 107545226 107634383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569991 S 6533 0 1 "" IS31763 esv1004268 13 107566404 107566404 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567924 S 3 1 0 "" HuRef esv1523192 13 107566405 107566405 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227682 S 2 1 0 "" HuRef nsv63970 13 107566406 107566406 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82548 M 24 "" nsv522687 13 107612825 107616886 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706097 S 2026 0 1 "" nsv521685 13 107630437 107631285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698305 S 2026 0 1 "" esv6274 13 107640322 107640383 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28715 S 1 1 0 "" SJK esv1348494 13 107708548 107708622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633025 S 2 0 1 "" HuRef esv1285153 13 107709017 107709017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3898675 S 2 1 0 "" HuRef esv2563318 13 107728702 107729311 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273586 S 1 1 0 TNFSF13B NA18507 nsv510624 13 107732871 107757838 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617410,nssv618908 M 4 0 2 TNFSF13B CHM,NA10860 nsv526850 13 107737706 107741035 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703208 S 2026 1 0 TNFSF13B esv27365 13 107745068 107749813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15128 S 451 0 11 TNFSF13B NA07037,NA07045,NA11993,NA11995,NA12044,NA12776,NA18508,NA18517,NA19108,NA19114,NA19147 dgv119n21 13 107782011 107789674 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519175,nsv527316 M 2026 0 2 "" nsv832716 13 107875490 108044958 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450478,nssv1450476,nssv1450477 M 95 0 3 "" nsv520463 13 107895041 107898025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671667,nssv691641 M 2026 0 2 "" esv2466583 13 107908717 107909266 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350531 S 1 1 0 "" NA18507 nsv513398 13 107908883 107909357 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625795 S 1 1 0 "" 1 nsv518060 13 108037834 108038578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695471 S 2026 0 1 "" nsv1178 13 108064532 108097993 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1170 S 9 1 0 MYO16 NA19240 nsv509515 13 108125773 108147914 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623652 S 4 1 0 MYO16 NA18994 nsv1179 13 108127879 108161338 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2055,nssv4091,nssv1171 M 9 3 0 MYO16 NA12878,NA18555,NA19240 esv994778 13 108140297 108142162 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564554 S 3 1 0 MYO16 HuRef esv2632168 13 108159239 108161052 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238990 S 1 0 1 MYO16 NA18507 esv2395984 13 108159563 108160628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697820 S 1 0 1 MYO16 NA18507 nsv512336 13 108159643 108160541 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624918 S 1 0 1 MYO16 1 esv5193 13 108159719 108160520 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27634 S 1 0 1 Single Asian sample YH MYO16 YH esv9706 13 108159737 108160451 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32147 S 1 0 1 MYO16 SJK esv26162 13 108159773 108160398 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19915 S 451 11 3 MYO16 NA06985,NA07037,NA11995,NA12006,NA12239,NA12749,NA12776,NA12828,NA18508,NA18523,NA18858,NA18861,NA19147,NA19240 nsv821014 13 108159773 108160712 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421062 S 1 0 1 MYO16 NA10851 nsv826784 13 108159773 108160712 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422131,nssv1439250,nssv1440625,nssv1429370,nssv1433159,nssv1438420,nssv1427024,nssv1429779,nssv1432387,nssv1427812,nssv1424535 M 31 0 11 MYO16 AK12,AK20,AK6,AK8,NA18564,NA18582,NA18947,NA18951,NA18972,NA18973,NA18997 esv997483 13 108159824 108160287 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586875 S 3 1 0 MYO16 HuRef nsv826785 13 108159824 108160287 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422053,nssv1431600,nssv1436149,nssv1423726,nssv1435383,nssv1425293,nssv1435718,nssv1429341,nssv1430889,nssv1439946,nssv1437731 M 31 9 2 MYO16 AK16,AK18,AK2,NA18537,NA18547,NA18566,NA18592,NA18942,NA18949,NA18968,NA18999 nsv826787 13 108159824 108160546 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434686,nssv1430122 M 31 2 0 MYO16 AK14,NA18570 esv23749 13 108210934 108211668 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20696 S 451 1 0 MYO16 NA12749 esv2589356 13 108312725 108314286 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349391 S 1 0 1 MYO16 NA18507 esv3381 13 108323949 108324279 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25822 S 1 0 1 Single Asian sample YH MYO16 YH nsv9105 13 108337567 108341665 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21645 S 31 0 1 Samples from several populations that are part of the HapMap project. MYO16 NA18537 nsv9106 13 108361324 108365802 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21244 S 31 0 1 Samples from several populations that are part of the HapMap project. MYO16 NA10839 nsv832717 13 108424717 108588641 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450479 S 95 0 1 MYO16 esv990061 13 108441897 108441897 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574487 S 3 1 0 MYO16 HuRef esv1152422 13 108441966 108441966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844752 S 2 1 0 MYO16 HuRef esv2367242 13 108447486 108447906 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545425 S 1 0 1 MYO16 NA18507 esv1656960 13 108447666 108447716 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658980 S 2 0 1 MYO16 HuRef esv998130 13 108458891 108458970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576856 S 3 0 1 MYO16 HuRef nsv64924 13 108458972 108459023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83502 M 24 MYO16 nsv525337 13 108462557 108474724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701455 S 2026 0 1 MYO16 nsv901002 13 108462557 108519969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555509 S 6533 0 1 MYO16 MS21397 esv1695062 13 108473660 108473660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039587 S 2 1 0 MYO16 HuRef esv1038256 13 108474052 108474052 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713218 S 2 1 0 MYO16 HuRef esv28586 13 108486313 108486869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13295 S 451 0 1 MYO16 NA18861 nsv901003 13 108491886 108545383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582752 S 6533 0 1 MYO16 IS36131 nsv819031 13 108498646 108499485 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419099 S 2 1 0 MYO16 AK1 nsv832718 13 108526684 108700023 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450480 S 95 1 0 MYO16 nsv510366 13 108617555 108623555 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621408 S 4 0 1 MYO16 NA15510 esv267654 13 108626047 108626452 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493683,essv2507056,essv2501491 M 157 3 0 Samples from several populations that are part of the HapMap project. MYO16 NA18517,NA18870,NA19093 esv1770454 13 108685566 108685566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650202 S 2 1 0 "" HuRef nsv518003 13 108709716 108715363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695415 S 2026 0 1 "" dgv593e1 13 108719614 109007551 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12350,essv15593,esv328,essv6296 M 271 0 0 "" NA18609,NA19137,NA19138 nsv1180 13 108848596 108869201 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9164 S 9 0 1 "" NA12156 esv1032310 13 108939383 108939383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847465 S 2 1 0 "" HuRef esv2317945 13 109011015 109011412 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974318 S 1 0 1 "" NA18507 nsv64836 13 109011168 109011221 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83414 M 24 "" nsv64808 13 109011230 109011283 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83386 M 24 "" esv2649481 13 109019089 109020608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346539 S 1 0 1 "" NA18507 esv23066 13 109019334 109020423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16741 S 451 0 1 "" NA11931 esv4201 13 109019488 109020100 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26642 S 1 0 1 Single Asian sample YH "" YH esv1770367 13 109019926 109020057 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796643 S 2 0 1 "" HuRef esv28604 13 109121940 109122622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18510 S 451 0 2 "" NA18523,NA19147 esv1737091 13 109144840 109144840 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340911 S 2 1 0 "" HuRef nsv9107 13 109159511 109161459 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21385 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv1181 13 109166304 109201140 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1172 S 9 1 0 "" NA19240 dgv348n67 13 109179751 109271525 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826790,nsv826788,nsv826789,nsv826792 M 31 4 0 IRS2 NA18542,NA18552,NA18968,NA18973 nsv526943 13 109191478 109219885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703313 S 2026 0 1 IRS2 nsv826791 13 109195734 109260554 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435384 S 31 0 1 IRS2 NA18942 nsv9108 13 109215230 109219997 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19552,nssv21587,nssv20853,nssv23649,nssv23491,nssv20042,nssv19339,nssv24388,nssv24376,nssv26588,nssv20544,nssv18820,nssv19325,nssv21675,nssv19151,nssv21110,nssv21274,nssv20646,nssv20846 M 31 7 12 Samples from several populations that are part of the HapMap project. IRS2 NA07029,NA07048,NA10839,NA10847,NA10863,NA12802,NA12872,NA18502,NA18504,NA18537,NA18563,NA18572,NA18853,NA18942,NA18975,NA19007,NA19132,NA19221,NA19240 esv2500078 13 109215262 109217402 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345454 S 1 0 1 IRS2 NA18507 nsv512337 13 109215620 109217261 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624919 S 1 0 1 IRS2 1 esv29023 13 109215829 109217334 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11424,esv17303 M 451 1 12 IRS2 NA11931,NA11993,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA15510,NA18858,NA19129 nsv821265 13 109215829 109217334 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421063 S 1 0 1 IRS2 NA10851 esv2157648 13 109215915 109217223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877988 S 1 0 1 IRS2 NA18507 nsv818995 13 109219452 109220392 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416791 S 112 1 0 IRS2 NA19159 dgv349n67 13 109221188 109246629 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826794,nsv826793,nsv826795 M 31 3 0 IRS2 AK10,AK12,AK6 nsv826796 13 109228887 109240432 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433956 S 31 1 0 IRS2 NA18526 esv22887 13 109231669 109238306 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18455 S 451 0 3 IRS2 NA07045,NA12156,NA19190 nsv832719 13 109310260 109453884 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450481 S 95 0 1 "" esv32627 13 109313212 109322580 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94483 S 51 0 1 "" 21932 nsv901004 13 109451667 109480917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501539 S 6533 0 1 "" SP51019 esv25761 13 109461771 109465709 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11075,esv14637 M 451 9 0 "" NA11931,NA11993,NA12044,NA12156,NA12414,NA12749,NA18505,NA18858,NA18909 dgv350n67 13 109462800 109463426 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826801,nsv826799,nsv826802,nsv826798 M 31 9 0 "" AK12,AK16,AK18,AK2,NA18526,NA18547,NA18947,NA18951,NA18973 nsv826800 13 109462800 109463627 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436150 S 31 1 0 "" NA18566 esv2422177 13 109471611 109473200 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066454,essv5060453,essv5157697,essv5016826,essv5146352,essv5043686,essv5079863,essv5100024,essv5152357,essv5031590,essv5049174,essv5024277,essv5103574,essv5095912,essv5145677,essv5052339,essv5131090,essv5106864,essv5061558,essv5139038,essv5074963,essv5096763,essv5011727,essv5001937,essv5008591,essv5047312,essv5061793,essv5158897,essv5122084,essv5080533,essv5046531,essv5155387,essv5011616,essv5052739,essv5102573,essv5130274,essv5064899,essv5094374,essv5048044,essv5086294,essv5129167,essv5003495,essv5037089,essv5149164,essv5139789,essv5063841,essv5117667,essv5117083 M 1184 0 48 "" NA06984,NA07031,NA07045,NA10852,NA10856,NA11829,NA12045,NA12056,NA12264,NA12813,NA17967,NA17981,NA17990,NA18134,NA18140,NA18141,NA18143,NA18147,NA18156,NA18159,NA18544,NA18548,NA18570,NA18610,NA18634,NA18704,NA18942,NA18955,NA18965,NA19056,NA19074,NA19078,NA19084,NA19747,NA19782,NA19784,NA20529,NA20530,NA20760,NA20768,NA20828,NA20889,NA20902,NA20907,NA21098,NA21117,NA21524,NA21525 nsv442325 13 109471611 109473200 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2435306 13 109493556 109494678 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189960 S 1 1 0 "" NA18507 nsv901005 13 109531103 109564351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591309,nssv1592946 M 6533 0 2 "" IS38671,IS39322 dgv240n27 13 109540198 109559522 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456112,nsv456114,nsv456111,nsv456113 M 1557 0 4 "" 1780862195_A,1780862424_A,NINDS_149,NINDS_166 nsv515849 13 109540198 109559522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668304,nssv684798,nssv665009,nssv680613,nssv671104,nssv681213,nssv681276,nssv671868 M 2026 0 8 "" nsv901006 13 109546858 109604491 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591278 S 6533 1 0 COL4A1 IS38668 esv268884 13 109548350 109548511 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503180,essv2496655,essv2495340,essv2500146,essv2505805,essv2503145,essv2502430,essv2493097,essv2502649,essv2500812,essv2512833,essv2505642,essv2506725,essv2499088,essv2499742,essv2511513 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11894,NA12287,NA18573,NA18861,NA18943,NA18948,NA18951,NA18965,NA18973,NA18980,NA19005,NA19108,NA19114,NA19225 nsv456115 13 109554665 109604491 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533519 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL4A1 HGDP01303 nsv901007 13 109591124 109611710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530773 S 6533 0 1 COL4A1 MS10311 esv3081 13 109610452 109610860 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25522 S 1 0 1 Single Asian sample YH COL4A1 YH nsv520696 13 109616599 109617855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697562 S 2026 0 1 COL4A1 nsv1182 13 109627692 109673030 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6577 S 9 0 1 COL4A1 NA12156 dgv241n27 13 109640154 109650221 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456118,nsv456117 M 1557 0 2 COL4A1 HGDP00857,HGDP00868 nsv64357 13 109670084 109670213 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82935 M 24 COL4A1 nsv521901 13 109693996 109695445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694672 S 2026 0 1 COL4A1 esv1710742 13 109702844 109702910 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074417 S 2 0 1 COL4A1 HuRef nsv523051 13 109749316 109764350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698734 S 2026 0 1 COL4A1,COL4A2 esv27869 13 109757301 109759246 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20744 S 451 0 1 COL4A1,COL4A2 NA07037 esv2615739 13 109763199 109764804 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241744 S 1 0 1 COL4A2 NA18507 esv1211999 13 109763906 109764212 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057871 S 2 0 1 COL4A2 HuRef esv27569 13 109805677 109806172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11922 S 451 0 2 COL4A2 NA18858,NA19190 esv23686 13 109835656 109836403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16937 S 451 0 4 COL4A2 NA11995,NA12828,NA18858,NA19147 esv2549928 13 109835704 109836652 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269299 S 1 1 0 COL4A2 NA18507 esv2751128 13 109838799 109930491 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981495,essv6987972,essv6981493,essv6981494,essv6981496 M 771 0 1 COL4A2 BEC_280 esv2073023 13 109859070 109859565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531033 S 1 0 1 COL4A2 NA18507 esv3301 13 109859201 109859516 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25742 S 1 0 1 Single Asian sample YH COL4A2 YH esv274014 13 109874767 109875130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580972,essv2579511 M 7 2 0 Samples from several populations that are part of the HapMap project. COL4A2 NA19238,NA19240 esv270511 13 109874777 109875110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557914,essv2565884,essv2541053,essv2546520,essv2521137,essv2525836,essv2542514,essv2523047,essv2543946,essv2570877,essv2556552,essv2568087,essv2545701,essv2523466,essv2577389,essv2570651,essv2548167,essv2521846,essv2576702,essv2550723,essv2525413,essv2550299,essv2535350,essv2554291,essv2520655,essv2547479,essv2529349,essv2558255,essv2564777,essv2577864,essv2553566,essv2576418,essv2519995,essv2530720,essv2547049,essv2520810,essv2552385,essv2551875,essv2532317,essv2569296,essv2558843,essv2537156,essv2539227,essv2569782,essv2527116,essv2561381,essv2544990,essv2562990,essv2523512,essv2538425,essv2542780,essv2540322,essv2524664,essv2561292,essv2549276,essv2519530,essv2560160,essv2522256,essv2566028,essv2530979,essv2532489,essv2567905,essv2528774,essv2567595,essv2541687,essv2570052,essv2563627,essv2553314,essv2535849,essv2572469,essv2559165,essv2566778,essv2542141,essv2543601,essv2528106,essv2539424,essv2533903,essv2573050,essv2555291,essv2533437,essv2555743,essv2567173,essv2530024,essv2573981,essv2527464,essv2557664,essv2556003,essv2534282,essv2522544,essv2531442,essv2573712,essv2543253,essv2577143,essv2571956,essv2526925,essv2529670,essv2575165,essv2538756,essv2526469,essv2560768,essv2523951,essv2572613,essv2568588,essv2545117,essv2549923,essv2546016,essv2574091,essv2551306,essv2535954,essv2538101,essv2548719,essv2554611,essv2525065 M 157 113 0 Samples from several populations that are part of the HapMap project. COL4A2 NA06986,NA07000,NA07037,NA07346,NA07357,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12873,NA12892,NA18498,NA18502,NA18504,NA18505,NA18508,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18547,NA18550,NA18552,NA18555,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18907,NA18912,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19102,NA19108,NA19114,NA19116,NA19129,NA19143,NA19147,NA19172,NA19225,NA19239,NA19240,NA19257 nsv509516 13 109879989 109985527 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619639 S 4 1 0 COL4A2,RAB20 NA10860 nsv901008 13 109887574 109924502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543634 S 6533 0 1 COL4A2 MS16153 nsv832720 13 109898236 110093994 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450482 S 95 0 1 CARKD,CARS2,COL4A2,RAB20 esv4175 13 109907141 109907663 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26616 S 1 0 1 Single Asian sample YH COL4A2 YH esv5327 13 109924826 109925238 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27768 S 1 0 1 Single Asian sample YH COL4A2 YH esv1140517 13 109925030 109925030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139770 S 2 1 0 COL4A2 HuRef esv992456 13 109929743 109929743 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567421 S 3 1 0 COL4A2 HuRef esv995186 13 109929810 109929810 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574008 S 3 1 0 COL4A2 HuRef esv1260872 13 109929811 109929811 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108073 S 2 1 0 COL4A2 HuRef esv2078095 13 109931106 109931669 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539518 S 1 0 1 COL4A2 NA18507 esv28289 13 109931234 109932384 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16805 S 451 0 7 COL4A2 NA18508,NA18523,NA18861,NA18909,NA19099,NA19108,NA19190 esv1645508 13 109931898 109932048 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871881 S 2 0 1 COL4A2 HuRef esv1576880 13 109932197 109932197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667277 S 2 1 0 COL4A2 HuRef esv2624056 13 109932203 109932754 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182179 S 1 1 0 COL4A2 NA18507 nsv901009 13 109932781 109974394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546838 S 6533 0 1 COL4A2,RAB20 MS17208 esv2279017 13 109933851 109934292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775353 S 1 0 1 COL4A2 NA18507 nsv64022 13 109943493 109943560 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82600 M 24 COL4A2 esv24656 13 109943808 109944678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9890 S 451 0 1 COL4A2 NA18523 esv2369594 13 109947998 109948432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818339 S 1 0 1 COL4A2 NA18507 dgv1791n71 13 109963391 110084593 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901011,nsv901010 M 6533 2 0 CARKD,RAB20 MS12466,MS24798 esv1619657 13 109980690 109980786 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719378 S 2 0 1 RAB20 HuRef nsv901012 13 110018843 110138343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530774 S 6533 0 1 CARKD,CARS2 MS10311 esv2645126 13 110030472 110031971 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281764 S 1 0 1 "" NA18507 esv2205870 13 110030657 110031369 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638237 S 1 0 1 "" NA18507 nsv519056 13 110038470 110048044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694302 S 2026 0 1 "" esv1152627 13 110056667 110056716 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151069 S 2 0 1 "" HuRef nsv525124 13 110059268 110078003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701192 S 2026 0 1 CARKD nsv456120 13 110078003 110107618 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533523 S 1557 0 1 CARKD,CARS2 NINDS_111 nsv901013 13 110089193 110138343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580897 S 6533 0 1 CARKD,CARS2 IS35484 nsv901014 13 110100923 110178685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599426 S 6533 0 1 CARS2,ING1 IS41634 esv23797 13 110127245 110128420 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17909 S 451 0 7 CARS2 NA07045,NA11931,NA11995,NA12004,NA12006,NA12749,NA19190 nsv511508 13 110127451 110128355 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626127 S 1 0 1 CARS2 1 esv1011361 13 110127462 110128264 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587001 S 3 0 1 CARS2 HuRef esv994770 13 110127601 110127676 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572185 S 3 0 1 CARS2 HuRef esv991840 13 110127897 110128069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582423 S 3 0 1 CARS2 HuRef esv1319128 13 110127975 110128148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747451 S 2 0 1 CARS2 HuRef nsv519282 13 110141889 110158586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696764 S 2026 0 1 CARS2 esv1007915 13 110156696 110158091 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587074 S 3 0 1 "" HuRef nsv518808 13 110249709 110251585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696262 S 2026 0 1 "" esv996673 13 110323557 110324746 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586808 S 3 0 1 "" HuRef esv2504656 13 110356587 110358108 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215609 S 1 0 1 ANKRD10 NA18507 esv2018264 13 110357225 110357866 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682313 S 1 0 1 ANKRD10 NA18507 esv3077 13 110357396 110357730 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25518 S 1 0 1 Single Asian sample YH ANKRD10 YH esv6134 13 110357411 110357666 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28575 S 1 0 1 ANKRD10 SJK esv2583876 13 110357419 110357656 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299501 S 1 0 1 ANKRD10 NA18507 esv1002915 13 110357424 110357661 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567843 S 3 0 1 ANKRD10 HuRef esv1666847 13 110357429 110357667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158510 S 2 0 1 ANKRD10 HuRef esv29570 13 110363997 110366216 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17245 S 451 0 1 ANKRD10 NA12156 nsv64622 13 110378890 110378890 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83200 M 24 "" nsv456121 13 110381423 110458114 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533524 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00977 nsv512338 13 110385082 110387640 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624920 S 1 0 1 "" 1 nsv1183 13 110386795 110421132 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2912 S 9 1 0 "" NA18555 esv996291 13 110388550 110388550 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578910 S 3 1 0 "" HuRef esv1543458 13 110409753 110409753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264087 S 2 1 0 "" HuRef dgv594e1 13 110460034 110604912 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20853,essv24719,esv861 M 271 0 0 ARHGEF7 NA11829 esv2751129 13 110462708 110569878 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987708,essv6984899,essv6984900,essv6984901 M 771 1 0 ARHGEF7 SPC_192 dgv242n27 13 110475430 110547117 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456124,nsv456123 M 1557 2 0 "" 1780854058_A,1798860569_A nsv516588 13 110475430 110547117 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705960,nssv678880,nssv669400,nssv678998,nssv689839 M 2026 4 1 "" esv34372 13 110478211 110549062 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990192,essv6978070 M 771 1 0 "" NA11829 esv995862 13 110495232 110495357 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575029 S 3 0 1 "" HuRef esv993682 13 110501597 110501597 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573396 S 3 1 0 "" HuRef esv1075066 13 110501603 110501603 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208706 S 2 1 0 "" HuRef nsv9109 13 110501819 110509592 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21617,nssv21048,nssv20876,nssv21908,nssv24640,nssv21879,nssv20956,nssv20676,nssv21967,nssv19181,nssv20102,nssv21475,nssv21304,nssv22558,nssv20574,nssv21749,nssv21705,nssv23519,nssv24390 M 31 4 15 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10863,NA11830,NA12155,NA12740,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173 esv3285 13 110502261 110503045 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25726 S 1 0 1 Single Asian sample YH "" YH nsv511519 13 110502313 110503368 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626139 S 1 0 1 "" 1 esv23926 13 110502325 110502993 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16987 S 451 2 11 "" NA06985,NA07045,NA12004,NA12156,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18861,NA19108,NA19147 nsv820659 13 110502325 110502993 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421064 S 1 0 1 "" NA10851 esv2057553 13 110502349 110503186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500451 S 1 0 1 "" NA18507 esv7812 13 110502418 110502968 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30253 S 1 0 1 "" SJK esv1011238 13 110502505 110502879 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569842 S 3 0 1 "" HuRef esv1160224 13 110502520 110502895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084944 S 2 0 1 "" HuRef nsv507733 13 110534972 110540972 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623158 S 4 1 0 "" NA18994 nsv1184 13 110536570 110563232 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4092 S 9 1 0 "" NA12878 nsv1185 13 110545969 110577972 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9165 S 9 0 1 ARHGEF7 NA12156 nsv901015 13 110557519 110580878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507777,nssv1510065 M 6533 0 2 ARHGEF7 SP54725,SP54956 esv32604 13 110590449 110607412 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97115 S 51 0 1 ARHGEF7 22075 nsv1186 13 110675758 110720615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9166 S 9 0 1 ARHGEF7 NA12156 esv1576482 13 110704733 110704784 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924134 S 2 0 1 ARHGEF7 HuRef esv22455 13 110760347 110761877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14021 S 451 0 1 "" NA11894 nsv901016 13 110764386 110804690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549852 S 6533 0 1 C13orf16 MS18276 esv1655457 13 110776633 110776633 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715211 S 2 1 0 C13orf16 HuRef nsv64702 13 110776674 110776674 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83280 M 24 C13orf16 esv6389 13 110776773 110776850 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28830 S 1 1 0 C13orf16 SJK dgv120n21 13 110783259 110789285 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527048,nsv516543 M 2026 0 3 C13orf16 nsv518673 13 110783937 110789285 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696123 S 2026 1 0 C13orf16 esv1005888 13 110788424 110792106 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565205 S 3 1 0 C13orf16 HuRef esv2486174 13 110789989 110792329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200467 S 1 0 1 C13orf16 NA18507 esv22877 13 110790226 110792205 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10252 S 451 0 15 C13orf16 NA11995,NA12006,NA12287,NA12749,NA12776,NA12828,NA18502,NA18508,NA18517,NA18523,NA18916,NA19099,NA19108,NA19114,NA19190 nsv821529 13 110790226 110792630 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421065 S 1 0 1 C13orf16 NA10851 dgv1792n71 13 110831088 110880266 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901018,nsv901017 M 6533 0 2 "" MS10311,MS16153 nsv826803 13 110842555 110844317 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434687 S 31 0 1 "" NA18570 esv2133111 13 110852295 110852772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977769 S 1 0 1 "" NA18507 dgv595e1 13 110872855 111151995 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15054,esv162 M 271 0 0 "" NA19129 esv2502813 13 110885162 110885995 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299113 S 1 1 0 "" NA18507 esv4122 13 110891731 110892194 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26563 S 1 0 1 Single Asian sample YH "" YH esv1144634 13 110891760 110891883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120908 S 2 0 1 "" HuRef nsv901019 13 110907300 110934706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543636 S 6533 0 1 "" MS16153 nsv901020 13 110917523 110938766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546839 S 6533 0 1 "" MS17208 dgv1793n71 13 110934706 110962872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901023,nsv901021 M 6533 0 6 "" IS35179,IS35701,IS37979,IS40657,MS20440,MS22898 nsv901022 13 110934706 110993251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578958 S 6533 0 1 "" IS34996 nsv527335 13 110941191 110942174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703761 S 2026 0 1 "" dgv1794n71 13 110952863 111015109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901025,nsv901024 M 6533 0 2 "" IS33504,MS16153 esv271772 13 110959630 110959715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514002 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv28679 13 110971561 110972453 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18174 S 451 12 0 "" NA07045,NA12156,NA12489,NA18523,NA18858,NA18909,NA18916,NA19114,NA19129,NA19147,NA19190,NA19225 esv22963 13 110977166 110977982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18125 S 451 3 0 "" NA12044,NA12776,NA19114 esv2623667 13 111017877 111018530 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354862 S 1 1 0 "" NA18507 esv4722 13 111018199 111018639 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27163 S 1 0 1 Single Asian sample YH "" YH nsv513399 13 111018248 111018430 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625796 S 1 1 0 "" 1 esv1285341 13 111018396 111018396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017845 S 2 1 0 "" HuRef esv7025 13 111018414 111018592 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29466 S 1 0 1 "" SJK nsv832721 13 111024790 111149355 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450485,nssv1450483 M 95 0 2 "" esv1002546 13 111061393 111061393 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569275 S 3 1 0 "" HuRef esv1642008 13 111061431 111061431 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091260 S 2 1 0 "" HuRef esv1462345 13 111082037 111082037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791048 S 2 1 0 "" HuRef nsv64592 13 111145111 111145160 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83170 M 24 "" esv3014 13 111147438 111147927 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25455 S 1 0 1 Single Asian sample YH "" YH esv2169618 13 111559556 111559917 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923932 S 1 0 1 "" NA18507 esv1090787 13 111560083 111560083 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588158 S 2 1 0 "" HuRef nsv901027 13 111592577 111642167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543638 S 6533 0 1 "" MS16153 esv1149461 13 111621021 111621021 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939134 S 2 1 0 "" HuRef esv994840 13 111621037 111621094 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579539 S 3 0 1 "" HuRef esv1757044 13 111621083 111621141 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026807 S 2 0 1 "" HuRef nsv64098 13 111621108 111621165 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82676 M 24 "" nsv524691 13 111642167 111643475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700666 S 2026 0 1 "" dgv1795n71 13 111654211 111700176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901029,nsv901028 M 6533 0 4 "" IS32322,IS32888,IS33504,SP54956 esv1920672 13 111662198 111662634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4633047 S 1 0 1 "" NA18507 nsv901030 13 111665880 111867657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546840 S 6533 0 1 SOX1 MS17208 nsv456128 13 111682066 111848615 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533527 S 1557 0 1 SOX1 1780862444_A esv24445 13 111717258 111718620 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16744 S 451 8 1 "" NA07045,NA11894,NA12044,NA12287,NA12749,NA15510,NA19099,NA19114,NA19147 nsv820730 13 111717258 111718620 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421066 S 1 0 1 "" NA10851 esv3601 13 111717422 111718473 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26042 S 1 0 1 Single Asian sample YH "" YH esv9526 13 111717507 111718331 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31967 S 1 0 1 "" SJK dgv351n67 13 111736183 111818831 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826811,nsv826810,nsv826806,nsv826812,nsv826814,nsv826805,nsv826804 M 31 7 0 SOX1 AK10,AK12,AK18,NA18542,NA18552,NA18951,NA18968 nsv826807 13 111736604 111785399 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437732 S 31 1 0 SOX1 NA18949 esv27330 13 111739054 111739803 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19893 S 451 0 2 "" NA12044,NA12749 nsv826813 13 111740698 111843608 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427026 S 31 1 0 SOX1 AK6 nsv826815 13 111742134 111800824 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435386 S 31 0 1 SOX1 NA18942 nsv826816 13 111751060 111783205 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430123 S 31 1 0 SOX1 AK14 dgv1796n71 13 111751180 111785955 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901031,nsv901033,nsv901032 M 6533 0 5 SOX1 SP54725,SP54956,SP54988,SP55019,SP55021 nsv832722 13 111758242 111949607 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450486 S 95 0 1 SOX1 dgv352n67 13 111766578 111774244 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826817,nsv826818 M 31 2 0 SOX1 NA18526,NA18947 nsv819531 13 111772884 111774513 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419296 S 2 1 0 SOX1 AK1 esv2428583 13 111781082 111781316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294000 S 1 0 1 "" NA18507 esv9639 13 111841980 111842438 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32080 S 1 0 1 "" SJK esv22254 13 111848344 111852425 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17590 S 451 1 1 "" NA12828,NA18523 esv3218 13 111849605 111851971 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25659 S 1 0 1 Single Asian sample YH "" YH esv8499 13 111849640 111851874 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30940 S 1 0 1 "" SJK nsv901034 13 111850070 111930016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543639 S 6533 0 1 "" MS16153 esv1663207 13 111850571 111850668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358791 S 2 0 1 "" HuRef esv1712781 13 111850691 111851080 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281206 S 2 0 1 "" HuRef esv1562403 13 111851141 111851592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769028 S 2 0 1 "" HuRef esv1564751 13 111851880 111851880 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016940 S 2 1 0 "" HuRef nsv901035 13 111861792 111902203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589101 S 6533 0 1 "" IS38293 esv28563 13 111865723 111867430 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11159 S 451 0 1 "" NA18909 nsv507734 13 111869846 111875846 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620554,nssv617874,nssv623159 M 4 3 0 "" CHM,NA15510,NA18994 nsv64567 13 111871889 111871889 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83145 M 24 "" nsv901036 13 111876993 111902203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538680 S 6533 0 1 "" MS13770 esv1274946 13 111880879 111880879 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672596 S 2 1 0 "" HuRef esv6547 13 111880934 111880987 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28988 S 1 1 0 "" SJK nsv526460 13 111884656 111889281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702763 S 2026 0 1 "" nsv512339 13 111896707 111900314 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624922 S 1 0 1 "" 1 esv23907 13 111897024 111900227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20252,esv13301 M 451 0 10 "" NA11894,NA12287,NA12776,NA15510,NA18505,NA18861,NA19099,NA19108,NA19147,NA19190 esv2527238 13 111898031 111899875 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313787 S 1 0 1 "" NA18507 esv1338907 13 111898861 111899208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744682 S 2 0 1 "" HuRef esv8108 13 111898895 111899215 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30549 S 1 0 1 "" SJK esv1112211 13 111912507 111912507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643448 S 2 1 0 "" HuRef nsv901037 13 111914113 111957690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530777 S 6533 0 1 "" MS10311 esv23806 13 111916940 111917720 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11558 S 451 5 0 "" NA06985,NA12156,NA12828,NA15510,NA18916 nsv1189 13 111955357 112047008 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10006,nssv9298,nssv4093,nssv2056,nssv6579 M 9 0 5 "" NA12156,NA12878,NA18517,NA18555,NA18956 esv28647 13 111963702 111964957 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14048 S 451 0 1 "" NA19129 nsv509517 13 111972230 112027072 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619640,nssv620994 M 4 2 0 "" NA10860,NA15510 nsv510625 13 111972230 112027072 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622679 S 4 0 1 "" NA18994 nsv511026 13 111972230 112057344 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618672 S 4 0 0 "" CHM nsv1190 13 111973036 111997393 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1173,nssv2057,nssv6578,nssv10005 M 9 4 0 "" NA12156,NA18555,NA18956,NA19240 esv22756 13 111977923 112015678 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11276 S 451 2 6 "" NA12004,NA12044,NA18517,NA18523,NA18858,NA18916,NA19147,NA19190 esv1009221 13 111979014 112003724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565183 S 3 0 1 "" HuRef nsv64978 13 111981589 111981996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83556 M 24 "" esv1005655 13 111982001 111988491 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582067 S 3 0 1 "" HuRef esv2305724 13 111991263 111991606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4631881 S 1 0 1 "" NA18507 nsv64843 13 112010020 112010155 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83421 M 24 "" nsv1191 13 112011370 112012860 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4094 S 9 1 0 "" NA12878 esv1765106 13 112013842 112013944 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728871 S 2 0 1 "" HuRef esv1538736 13 112013970 112014038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850178 S 2 0 1 "" HuRef esv1027281 13 112014353 112014455 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743533 S 2 0 1 "" HuRef esv1245622 13 112021019 112021120 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323082 S 2 0 1 "" HuRef esv271479 13 112041769 112042089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525978,essv2522804,essv2553940,essv2520198,essv2555082,essv2530648,essv2554689 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11918,NA11931,NA12287,NA12815,NA12872,NA12873 esv1467568 13 112041800 112041800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602120 S 2 1 0 "" HuRef esv2509597 13 112043498 112044093 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244997 S 1 1 0 "" NA18507 esv1489522 13 112043836 112043836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732716 S 2 1 0 "" HuRef nsv901038 13 112123600 112171945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543640 S 6533 0 1 SPACA7 MS16153 esv998749 13 112149277 112149338 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570189 S 3 0 1 "" HuRef esv3685 13 112152114 112152608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26126 S 1 0 1 Single Asian sample YH "" YH esv1267564 13 112152421 112152421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735018 S 2 1 0 "" HuRef nsv517711 13 112154490 112157732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652925,nssv693281 M 2026 0 2 "" esv2433291 13 112240795 112242976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247194 S 1 0 1 TUBGCP3 NA18507 esv2222613 13 112242025 112242432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726788 S 1 0 1 TUBGCP3 NA18507 esv23229 13 112242048 112243063 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18960 S 451 0 15 TUBGCP3 NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA19190 nsv820877 13 112242048 112243095 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421067 S 1 1 0 TUBGCP3 NA10851 esv5608 13 112242180 112242636 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28049 S 1 0 1 TUBGCP3 SJK esv1008083 13 112255049 112255564 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587103 S 3 0 1 TUBGCP3 HuRef esv24106 13 112312139 112315600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11809 S 451 0 1 "" NA19190 nsv64288 13 112325844 112325844 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82866 M 24 "" esv1001881 13 112327364 112327364 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569307 S 3 1 0 "" HuRef esv1995020 13 112347517 112347926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958497 S 1 0 1 "" NA18507 esv7090 13 112347589 112347677 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29531 S 1 1 0 "" SJK esv1385787 13 112347749 112347749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767279 S 2 1 0 "" HuRef esv28365 13 112358353 112374596 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17970,esv15119 M 451 1 2 C13orf35 NA07045,NA18861,NA19190 nsv521686 13 112358548 112372325 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698306 S 2026 1 0 C13orf35 esv3166 13 112359751 112360278 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25607 S 1 0 1 Single Asian sample YH C13orf35 YH esv1056044 13 112360083 112360083 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917473 S 2 1 0 C13orf35 HuRef esv2220906 13 112378664 112379057 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843888 S 1 0 1 C13orf35 NA18507 esv1364864 13 112380810 112380810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194013 S 2 1 0 C13orf35 HuRef nsv518792 13 112381685 112487587 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696245 S 2026 0 1 ATP11A,C13orf35 esv2298800 13 112390036 112390465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985338 S 1 0 1 "" NA18507 esv2472921 13 112416051 112416899 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287988 S 1 1 0 ATP11A NA18507 nsv513401 13 112416150 112416458 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625798 S 1 1 0 ATP11A 1 esv1690416 13 112416371 112416371 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078672 S 2 1 0 ATP11A HuRef dgv596e1 13 112424858 112739202 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14892,essv8842,essv14367,essv10254,essv9097,essv9193,essv14793,essv15511,esv179,essv12529,essv11700,essv12973,essv13471,essv9151,essv10165,essv9738,essv16203,essv10792,essv11789,essv10293 M 271 0 0 ATP11A,MCF2L,MCF2L-AS1 NA18504,NA18505,NA18506,NA18508,NA18522,NA18523,NA18859,NA18860,NA18913,NA19128,NA19130,NA19132,NA19152,NA19154,NA19159,NA19161,NA19192,NA19194,NA19207 nsv428291 13 112424858 112739202 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452405 S 62 0 1 ATP11A,MCF2L,MCF2L-AS1 NA19113 esv2510072 13 112425164 112426018 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285077 S 1 1 0 ATP11A NA18507 esv1527034 13 112452487 112452673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916838 S 2 0 1 ATP11A HuRef esv1086325 13 112458135 112458264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661857 S 2 0 1 ATP11A HuRef esv2378148 13 112463679 112464138 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643851 S 1 0 1 ATP11A NA18507 esv1707874 13 112463868 112463949 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653543 S 2 0 1 ATP11A HuRef esv2456017 13 112468004 112469834 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198577 S 1 0 1 ATP11A NA18507 nsv512340 13 112468763 112472395 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624923 S 1 0 1 ATP11A 1 esv2099073 13 112468935 112469386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812877 S 1 0 1 ATP11A NA18507 esv29563 13 112469187 112469983 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16809 S 451 8 2 ATP11A NA06985,NA12006,NA12156,NA12489,NA12749,NA12776,NA18508,NA18916,NA19147,NA19225 nsv511521 13 112469269 112469810 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626141 S 1 0 1 ATP11A 1 nsv901039 13 112484429 113082442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589102 S 6533 0 1 ATP11A,CUL4A,F10,F7,GRTP1,LAMP1,MCF2L,MCF2L-AS1,PCID2,PROZ IS38293 esv22913 13 112488037 112489097 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9858 S 451 1 2 ATP11A NA18502,NA18508,NA19240 nsv821432 13 112488037 112489097 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421070 S 1 0 1 ATP11A NA10851 esv1774255 13 112488264 112488633 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874069 S 2 0 1 ATP11A HuRef esv997044 13 112488351 112488719 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585299 S 3 0 1 ATP11A HuRef esv1622900 13 112489425 112489616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825045 S 2 0 1 ATP11A HuRef esv1122094 13 112489949 112489949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871916 S 2 1 0 ATP11A HuRef esv1002642 13 112490019 112492011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576679 S 3 0 1 ATP11A HuRef nsv64365 13 112490143 112490254 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82943 M 24 ATP11A nsv64969 13 112492342 112492437 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83547 M 24 ATP11A nsv1192 13 112498172 112531502 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1174 S 9 1 0 ATP11A NA19240 nsv901040 13 112501031 112615675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546841 S 6533 0 1 ATP11A MS17208 esv2466127 13 112503207 112504763 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174451 S 1 0 1 ATP11A NA18507 esv1761970 13 112503577 112503728 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046212 S 2 0 1 ATP11A HuRef esv28043 13 112546642 112548166 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20859,esv15954 M 451 30 0 ATP11A NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19225 esv2546115 13 112546800 112548540 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372750 S 1 0 1 ATP11A NA18507 nsv820556 13 112547006 112548166 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421071 S 1 0 1 ATP11A NA10851 esv3606 13 112547413 112548367 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26047 S 1 0 1 Single Asian sample YH ATP11A YH esv1002063 13 112547491 112548088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576999 S 3 0 1 ATP11A HuRef nsv64912 13 112547500 112547594 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83490 M 24 ATP11A esv1436593 13 112548099 112548099 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806354 S 2 1 0 ATP11A HuRef nsv832723 13 112550821 112746773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450488,nssv1450487 M 95 0 2 ATP11A,MCF2L,MCF2L-AS1 nsv524253 13 112560332 112587895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700149 S 2026 0 1 ATP11A nsv1193 13 112561946 112595883 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9168 S 9 1 0 ATP11A NA12156 esv28063 13 112565052 112568216 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17201 S 451 11 0 ATP11A NA07045,NA12287,NA18508,NA18523,NA18858,NA18861,NA18907,NA19108,NA19147,NA19190,NA19240 esv1528241 13 112565599 112565599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026302 S 2 1 0 ATP11A HuRef esv1479750 13 112566008 112566063 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723097 S 2 0 1 ATP11A HuRef nsv64453 13 112566069 112567311 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83031 M 24 ATP11A esv1045101 13 112566078 112566240 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267778 S 2 0 1 ATP11A HuRef esv1664651 13 112566522 112567496 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107381 S 2 0 1 ATP11A HuRef essv1950 13 112568275 112739202 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATP11A,MCF2L,MCF2L-AS1 NA18959 esv270977 13 112568936 112569263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558150,essv2576117,essv2540988,essv2571725,essv2546243,essv2521045,essv2526039,essv2542572,essv2536493,essv2522814,essv2570976,essv2545340,essv2523085,essv2531974,essv2577311,essv2570399,essv2548442,essv2521744,essv2550449,essv2535283,essv2552218,essv2520339,essv2529242,essv2558253,essv2564776,essv2577853,essv2559592,essv2565480,essv2576391,essv2564046,essv2554870,essv2530832,essv2561874,essv2528640,essv2557566,essv2556855,essv2552334,essv2562744,essv2578518,essv2537082,essv2539031,essv2569751,essv2561616,essv2544718,essv2552761,essv2541203,essv2538390,essv2542691,essv2540275,essv2524446,essv2564793,essv2539832,essv2549579,essv2519700,essv2522284,essv2565997,essv2531206,essv2532861,essv2567718,essv2528740,essv2567529,essv2541806,essv2569947,essv2563832,essv2535693,essv2572268,essv2559275,essv2566688,essv2542114,essv2550876,essv2569089,essv2562269,essv2534089,essv2578432,essv2573199,essv2555211,essv2533458,essv2555538,essv2530146,essv2574053,essv2534484,essv2531353,essv2573574,essv2543339,essv2577169,essv2571872,essv2526841,essv2529437,essv2575438,essv2526599,essv2560554,essv2524197,essv2560841,essv2574724,essv2530342,essv2572855,essv2568690,essv2545251,essv2560441,essv2548079,essv2549856,essv2545788,essv2574065,essv2551500,essv2538143,essv2548674,essv2532983,essv2554486,essv2547692,essv2524993,essv2563272 M 157 111 0 Samples from several populations that are part of the HapMap project. ATP11A NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12234,NA12249,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12828,NA12872,NA12873,NA12874,NA12891,NA18499,NA18501,NA18502,NA18507,NA18510,NA18517,NA18519,NA18520,NA18523,NA18526,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19239,NA19240,NA19257 esv272428 13 112568936 112569263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582647,essv2584812,essv2583841 M 7 3 0 Samples from several populations that are part of the HapMap project. ATP11A NA12891,NA19239,NA19240 esv1152919 13 112568968 112568968 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361918 S 2 1 0 ATP11A HuRef nsv509518 13 112573679 112621843 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619641 S 4 1 0 ATP11A NA10860 esv26123 13 112575118 112575905 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15182 S 451 0 4 ATP11A NA18505,NA18508,NA19108,NA19190 nsv821077 13 112575118 112575905 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421072 S 1 1 0 ATP11A NA10851 esv1564397 13 112575224 112575224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067502 S 2 1 0 ATP11A HuRef nsv64496 13 112575349 112575497 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83074 M 24 ATP11A esv1397948 13 112575505 112575505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635972 S 2 1 0 ATP11A HuRef dgv1797n71 13 112575663 112938489 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901041,nsv901044 M 6533 0 2 ATP11A,CUL4A,F10,F7,MCF2L,MCF2L-AS1,PCID2,PROZ IS37646,MS10311 nsv901042 13 112575968 112595377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509352 S 6533 0 1 ATP11A SP54782 nsv9110 13 112581214 112585157 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23677 S 31 1 0 Samples from several populations that are part of the HapMap project. ATP11A NA19240 nsv64155 13 112597190 112597254 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82733 M 24 "" nsv509519 13 112627410 112801899 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619642,nssv623653 M 4 2 0 MCF2L,MCF2L-AS1 NA10860,NA18994 nsv901043 13 112633899 112790596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537130 S 6533 0 1 MCF2L,MCF2L-AS1 MS13095 esv1728175 13 112640317 112640317 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024637 S 2 1 0 "" HuRef nsv901045 13 112658843 112713930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573892 S 6533 0 1 MCF2L,MCF2L-AS1 IS33504 dgv1798n71 13 112658843 112835822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901047,nsv901046,nsv901048 M 6533 0 3 F10,F7,MCF2L,MCF2L-AS1 IS39233,MS16153,MS18276 esv1287067 13 112664388 112664448 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336663 S 2 0 1 "" HuRef esv2519311 13 112675005 112675451 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202145 S 1 1 0 MCF2L NA18507 esv1191518 13 112682957 112682957 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949827 S 2 1 0 MCF2L HuRef esv1008448 13 112691133 112691465 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578350 S 3 0 1 MCF2L HuRef esv1345410 13 112691161 112691161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846008 S 2 1 0 MCF2L HuRef esv2064600 13 112691612 112692183 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920954 S 1 0 1 MCF2L NA18507 nsv901049 13 112695191 113136844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546842 S 6533 0 1 ADPRHL1,CUL4A,F10,F7,GRTP1,LAMP1,MCF2L,PCID2,PROZ MS17208 nsv518044 13 112707109 112913337 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695455 S 2026 1 0 CUL4A,F10,F7,MCF2L,PCID2,PROZ nsv9111 13 112713274 112720950 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20604,nssv20883,nssv19582,nssv21108,nssv24402,nssv21997 M 31 0 6 Samples from several populations that are part of the HapMap project. MCF2L NA07048,NA11830,NA18564,NA18942,NA18975,NA19132 esv26193 13 112713574 112715743 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20298 S 451 0 2 MCF2L NA11894,NA11995 nsv821247 13 112713574 112715743 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421073 S 1 0 1 MCF2L NA10851 nsv512341 13 112713691 112715844 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624924 S 1 0 1 MCF2L 1 nsv901050 13 112715281 112784544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570784 S 6533 0 1 MCF2L IS32322 esv22881 13 112727109 112728579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11162 S 451 0 11 MCF2L NA06985,NA11931,NA12004,NA12044,NA12749,NA12776,NA12828,NA18517,NA18861,NA19147,NA19190 dgv1799n71 13 112728113 112804541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901052,nsv901051 M 6533 0 2 MCF2L IS32841,IS33248 esv30000 13 112733655 112742510 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84239 S 2 0 1 MCF2L HuRef nsv901053 13 112757774 112814587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571525 S 6533 0 1 F7,MCF2L IS32737 nsv901054 13 112765245 112791769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574129 S 6533 0 1 MCF2L IS33514 esv1660371 13 112769843 112770569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064982 S 2 0 1 MCF2L HuRef dgv1800n71 13 112770981 112825510 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901055,nsv901056,nsv901057,nsv901059,nsv901058 M 6533 0 5 F10,F7,MCF2L IS34057,IS37172,IS40230,MS10698,SP54988 nsv832724 13 112775902 112852253 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450490,nssv1450491,nssv1450489 M 95 0 3 F10,F7,MCF2L nsv519639 13 112776346 112784544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674714,nssv657313,nssv683047,nssv700175 M 2026 0 4 MCF2L nsv819070 13 112776695 112776955 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419514 S 2 1 0 MCF2L AK1 esv1104322 13 112782124 112782124 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860511 S 2 1 0 MCF2L HuRef nsv64645 13 112782417 112782576 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83223 M 24 MCF2L esv1071073 13 112788082 112788139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795138 S 2 0 1 MCF2L HuRef esv1002984 13 112788113 112788169 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566439 S 3 0 1 MCF2L HuRef nsv818996 13 112790596 112828042 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417710 S 112 1 0 F10,F7,MCF2L NA18999 esv992602 13 112791628 112791628 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583491 S 3 1 0 MCF2L HuRef esv22720 13 112808521 112813279 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13559,esv12030 M 451 0 4 F7 NA07037,NA11931,NA12004,NA18502 esv1703089 13 112808940 112808940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287107 S 2 1 0 F7 HuRef esv1400714 13 112809857 112809857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219285 S 2 1 0 F7 HuRef esv1083485 13 112810885 112810885 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752480 S 2 1 0 F7 HuRef esv5028 13 112813601 112814254 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27469 S 1 0 1 Single Asian sample YH F7 YH nsv64704 13 112814875 112815362 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83282 M 24 F7 nsv901060 13 112815237 112834948 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505598 S 6533 1 0 F10,F7 SP53687 dgv1801n71 13 112822093 112835460 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901063,nsv901061,nsv901062 M 6533 3 0 F10,F7 SP54381,SP54442,SP54650 nsv826819 13 112834265 112841031 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436998 S 31 1 0 F10 NA18542 nsv901064 13 112834948 112868681 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503571 S 6533 1 0 F10,PROZ SP52077 esv1499407 13 112838952 112839279 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051310 S 2 0 1 F10 HuRef nsv901065 13 112846885 112862466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510884 S 6533 0 1 F10,PROZ SP54988 esv22603 13 112864060 112865355 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18259 S 451 2 0 PROZ NA12156,NA19108 esv1604471 13 112864937 112865063 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319795 S 2 0 1 PROZ HuRef nsv901066 13 112868137 112871823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503522 S 6533 0 1 PROZ SP52077 nsv901067 13 112868137 112874101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507679 S 6533 0 1 PROZ SP54614 nsv901068 13 112870951 112878460 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503572 S 6533 1 0 PROZ SP52077 esv2568528 13 112878555 112879124 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320310 S 1 1 0 "" NA18507 esv1191844 13 112878823 112878823 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982021 S 2 1 0 "" HuRef esv25141 13 112909686 112912646 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14815 S 451 0 2 CUL4A,PCID2 NA07045,NA12828 nsv509520 13 112921520 112960122 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623654 S 4 1 0 CUL4A NA18994 esv1282521 13 112934501 112934501 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802547 S 2 1 0 CUL4A HuRef esv1654591 13 112934589 112934589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998362 S 2 1 0 CUL4A HuRef nsv1194 13 112941092 112973900 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6580 S 9 1 0 CUL4A NA12156 dgv1802n71 13 112963486 113157383 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901069,nsv901070 M 6533 0 2 ADPRHL1,CUL4A,GRTP1,LAMP1 MS10311,MS13770 esv1087624 13 112965437 112965437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006436 S 2 1 0 CUL4A HuRef esv1574408 13 112965474 112965474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129653 S 2 1 0 CUL4A HuRef nsv826821 13 112986687 112987425 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436151 S 31 0 1 "" NA18566 nsv509521 13 113011276 113096796 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623655,nssv619643 M 4 2 0 GRTP1,LAMP1 NA10860,NA18994 nsv901071 13 113033206 113082442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592302 S 6533 0 1 GRTP1 IS39233 nsv64974 13 113034640 113034640 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83552 M 24 GRTP1 esv1571231 13 113034684 113034684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143045 S 2 1 0 GRTP1 HuRef esv28919 13 113038694 113039994 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12369 S 451 1 0 GRTP1 NA19190 esv2005167 13 113038863 113039323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838281 S 1 0 1 GRTP1 NA18507 esv1739341 13 113039071 113039141 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698513 S 2 0 1 GRTP1 HuRef esv26486 13 113045204 113045927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17175 S 451 0 1 GRTP1 NA18858 nsv512342 13 113048234 113050221 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624925 S 1 0 1 GRTP1 1 esv4257 13 113048279 113048777 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26698 S 1 0 1 Single Asian sample YH GRTP1 YH esv29598 13 113048313 113050463 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15193 S 451 9 1 GRTP1 NA11894,NA12006,NA12239,NA12749,NA15510,NA18502,NA18517,NA18909,NA19225,NA19240 esv1364343 13 113048365 113048423 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113715 S 2 0 1 GRTP1 HuRef esv1046944 13 113048521 113048669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128427 S 2 0 1 GRTP1 HuRef esv1182261 13 113049997 113049997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899229 S 2 1 0 GRTP1 HuRef esv988844 13 113059355 113059355 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584983 S 3 1 0 GRTP1 HuRef esv1434678 13 113059393 113059393 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184030 S 2 1 0 GRTP1 HuRef esv28017 13 113077078 113085919 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10034,esv9753,esv11973,esv16090 M 451 33 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv826822 13 113077223 113087211 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422132,nssv1435729,nssv1441467,nssv1430125 M 31 1 3 "" AK14,NA18592,NA18969,NA18997 nsv9112 13 113077224 113094346 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24666,nssv18850,nssv24923,nssv20906,nssv19612,nssv21505,nssv26602,nssv21909,nssv23547,nssv20913,nssv23735,nssv21140,nssv20132,nssv20634,nssv21735,nssv19369,nssv20706,nssv24416,nssv21809,nssv21138,nssv24414,nssv19355,nssv21647,nssv22588,nssv19211,nssv24428,nssv22027 M 31 27 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv1613363 13 113077603 113077683 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318853 S 2 0 1 "" HuRef esv1786647 13 113077708 113077868 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177147 S 2 0 1 "" HuRef esv1239246 13 113078247 113078247 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643292 S 2 1 0 "" HuRef dgv353n67 13 113078663 113082798 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826824,nsv826825,nsv826826,nsv826823 M 31 4 0 "" NA18542,NA18552,NA18968,NA18973 nsv820724 13 113079268 113084101 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421074 S 1 0 1 "" NA10851 dgv354n67 13 113080141 113082798 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826827,nsv826828,nsv826829 M 31 11 0 "" AK16,AK18,NA18526,NA18537,NA18564,NA18566,NA18570,NA18582,NA18947,NA18949,NA18951 nsv819605 13 113080379 113094269 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418640 S 2 1 0 "" AK1 nsv826830 13 113080956 113082480 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423727 S 31 1 0 "" NA18999 nsv901072 13 113085341 113136844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549854 S 6533 0 1 ADPRHL1 MS18276 dgv597e1 13 113086430 113259065 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23919,esv210 M 271 0 0 ADPRHL1,DCUN1D2,TMCO3 NA12814 nsv1195 13 113095900 113129559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4096 S 9 1 0 ADPRHL1 NA12878 esv273975 13 113096691 113096776 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581335 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv9113 13 113097958 113102832 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20943 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv23607 13 113098441 113102249 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14783 S 451 0 1 "" NA06985 nsv901073 13 113100471 113485357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543642 S 6533 0 1 ADPRHL1,ATP4B,DCUN1D2,GRK1,TFDP1,TMCO3 MS16153 nsv9115 13 113105623 113118136 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26615 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv1225682 13 113106419 113106419 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782896 S 2 1 0 "" HuRef nsv509522 13 113110997 113134389 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623656,nssv619644,nssv620995 M 4 3 0 ADPRHL1 NA10860,NA15510,NA18994 esv24879 13 113115027 113115502 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20022 S 451 0 9 "" NA06985,NA07037,NA11993,NA12489,NA18523,NA18916,NA19114,NA19190,NA19225 esv1613986 13 113115263 113115263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995871 S 2 1 0 "" HuRef esv1023621 13 113115284 113115284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363106 S 2 1 0 "" HuRef esv992977 13 113120027 113120027 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584141 S 3 1 0 "" HuRef esv1212898 13 113120116 113120116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063414 S 2 1 0 "" HuRef nsv513402 13 113121029 113121461 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625799 S 1 1 0 "" 1 nsv513403 13 113126585 113127002 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625801 S 1 1 0 ADPRHL1 1 esv2454485 13 113126742 113127407 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248580 S 1 1 0 ADPRHL1 NA18507 esv1482794 13 113127014 113127014 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283029 S 2 1 0 ADPRHL1 HuRef nsv9116 13 113136514 113149027 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26628 S 31 1 0 Samples from several populations that are part of the HapMap project. ADPRHL1 NA19221 esv22722 13 113136661 113139686 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13906 S 451 1 1 ADPRHL1 NA12239,NA12828 nsv64762 13 113137468 113137635 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83340 M 24 ADPRHL1 nsv64447 13 113138644 113138979 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83025 M 24 ADPRHL1 esv1314688 13 113138710 113139088 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363287 S 2 0 1 ADPRHL1 HuRef nsv901074 13 113140550 113360001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585968 S 6533 0 1 ADPRHL1,ATP4B,DCUN1D2,TFDP1,TMCO3 IS37646 nsv64502 13 113149278 113149458 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83080 M 24 ADPRHL1 nsv456137 13 113154699 113179955 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533529 S 1557 0 1 ADPRHL1,DCUN1D2 1780862304_A esv1129275 13 113173082 113173422 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241456 S 2 0 1 DCUN1D2 HuRef esv2293160 13 113243381 113243953 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812545 S 1 0 1 TMCO3 NA18507 esv22070 13 113243645 113244735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14044 S 451 0 1 TMCO3 NA19099 nsv64189 13 113260142 113260261 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82767 M 24 "" nsv832726 13 113261409 113365404 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450494,nssv1450493,nssv1450492 M 95 0 3 ATP4B,TFDP1 esv22267 13 113265033 113268058 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13558 S 451 1 0 "" NA12156 esv1001474 13 113266601 113268221 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587030 S 3 0 1 "" HuRef dgv355n67 13 113266702 113268520 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826832,nsv826833 M 31 2 0 "" AK14,NA18997 nsv819399 13 113266870 113268543 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419302 S 2 1 0 "" AK1 dgv356n67 13 113267402 113268221 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826835,nsv826834 M 31 3 0 "" AK10,AK18,NA18526 nsv820929 13 113267402 113268221 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421075 S 1 0 1 "" NA10851 nsv901075 13 113272497 113360001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546843 S 6533 0 1 ATP4B,TFDP1 MS17208 nsv509523 13 113273289 113328685 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619645 S 4 1 0 TFDP1 NA10860 esv2179111 13 113285831 113286176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592947 S 1 0 1 "" NA18507 esv23154 13 113326584 113329034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20805 S 451 0 6 TFDP1 NA11894,NA11931,NA12006,NA12749,NA12828,NA18909 nsv820428 13 113326584 113329034 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421076 S 1 1 0 TFDP1 NA10851 nsv832727 13 113492713 113658045 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450496 S 95 0 1 FAM70B,FLJ41484,FLJ44054,GAS6,LOC100506394 esv23133 13 113496464 113497354 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16250 S 451 0 1 FLJ44054 NA06985 esv33489 13 113497396 113501832 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100852,essv97216 M 51 2 0 FLJ44054 21656,22075 nsv511027 13 113505090 113575028 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624345,nssv622401,nssv621625 M 4 0 0 FLJ41484,FLJ44054,GAS6,LOC100506394 NA10860,NA15510,NA18994 esv2647358 13 113510274 113512402 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223423 S 1 0 1 FLJ44054 NA18507 nsv512343 13 113510309 113512178 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624926 S 1 0 1 FLJ44054 1 esv28885 13 113510406 113512151 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19406 S 451 12 0 FLJ44054 NA07045,NA11993,NA11995,NA12287,NA12489,NA12749,NA12776,NA15510,NA18517,NA19099,NA19108,NA19114 esv1785705 13 113510609 113510663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683231 S 2 0 1 FLJ44054 HuRef esv1089923 13 113510954 113511872 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595507 S 2 0 1 FLJ44054 HuRef dgv1803n71 13 113524235 113595154 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901082,nsv901077 M 6533 0 8 FLJ41484,FLJ44054,GAS6,LOC100506394 IS33178,IS33455,IS33601,IS33684,IS34235,IS38176,MS11306,MS13095 dgv1804n71 13 113524235 114025158 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901081,nsv901078,nsv901080,nsv901079 M 6533 0 5 CDC16,FAM70B,FLJ41484,FLJ44054,GAS6,LOC100506394,RASA3 IS37646,IS39233,MS10123,MS10311,MS17208 esv27939 13 113533871 113535041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17273 S 451 0 10 "" NA12004,NA12006,NA18502,NA18517,NA18858,NA18909,NA19099,NA19108,NA19129,NA19190 esv4706 13 113534376 113534804 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27147 S 1 0 1 Single Asian sample YH "" YH nsv522907 13 113535832 113538172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698566 S 2026 0 1 "" nsv826836 13 113535894 113657997 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435387 S 31 0 1 FAM70B,FLJ41484,GAS6,LOC100506394 NA18942 nsv901083 13 113554421 113595154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573893,nssv1533571 M 6533 0 2 FLJ41484,GAS6 IS33504,MS11237 esv2493664 13 113564766 113569542 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387672 S 1 0 1 FLJ41484,GAS6 NA18507 esv27370 13 113565334 113569568 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14781,esv16706 M 451 0 5 FLJ41484,GAS6 NA12828,NA18502,NA18505,NA18508,NA19147 nsv901084 13 113566523 113611527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571526,nssv1573069 M 6533 0 2 FAM70B,FLJ41484,GAS6 IS32737,IS33239 dgv1805n71 13 113566523 113891930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901088,nsv901086,nsv901091,nsv901087,nsv901085 M 6533 0 6 FAM70B,FLJ41484,GAS6,RASA3 MS10698,MS10769,MS16153,MS16315,MS18276,SP54988 nsv820519 13 113568713 113569568 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421077 S 1 1 0 GAS6 NA10851 esv1443107 13 113568943 113568943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321084 S 2 1 0 GAS6 HuRef esv1258186 13 113569003 113569003 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616870 S 2 1 0 GAS6 HuRef esv1344439 13 113569024 113569024 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297132 S 2 1 0 GAS6 HuRef esv1444149 13 113569144 113569285 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083435 S 2 0 1 GAS6 HuRef esv1157105 13 113569490 113569490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038585 S 2 1 0 GAS6 HuRef esv1993584 13 113571367 113571778 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740771 S 1 0 1 GAS6 NA18507 esv24756 13 113576064 113608417 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12005,esv12598,esv10753 M 451 22 4 FAM70B,GAS6 NA07037,NA07045,NA11931,NA12004,NA12044,NA12239,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225 nsv826837 13 113576064 113608950 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428620,nssv1427028,nssv1423728,nssv1422134,nssv1429376,nssv1440627,nssv1429396,nssv1427813,nssv1439255,nssv1435741,nssv1426098,nssv1441468,nssv1432388,nssv1433160,nssv1435388,nssv1430893,nssv1439948,nssv1437734 M 31 0 18 FAM70B,GAS6 AK10,AK12,AK16,AK20,AK4,AK6,AK8,NA18537,NA18564,NA18592,NA18942,NA18949,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv901089 13 113576143 113601434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510068 S 6533 0 1 FAM70B,GAS6 SP54956 nsv901090 13 113579198 113592116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506038 S 6533 0 1 GAS6 SP54043 esv2609338 13 113593170 113593822 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255604 S 1 1 0 "" NA18507 esv1132540 13 113594744 113594744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721017 S 2 1 0 "" HuRef nsv64295 13 113606186 113606186 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82873 M 24 FAM70B esv1683520 13 113606395 113606395 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022530 S 2 1 0 FAM70B HuRef nsv511528 13 113606406 113611527 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626150 S 1 0 1 FAM70B 1 nsv821397 13 113606963 113608752 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421078 S 1 0 1 FAM70B NA10851 esv1010361 13 113607045 113607049 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581312 S 3 1 0 FAM70B HuRef esv1615276 13 113607050 113607050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942690 S 2 1 0 FAM70B HuRef nsv64170 13 113607083 113607083 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82748 M 24 FAM70B nsv512344 13 113607270 113608393 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624927 S 1 0 1 FAM70B 1 nsv826838 13 113607358 113608356 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436154 S 31 0 1 FAM70B NA18566 esv1010112 13 113609975 113610056 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578250 S 3 0 1 FAM70B HuRef esv1553413 13 113609985 113610067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149709 S 2 0 1 FAM70B HuRef esv1427020 13 113617514 113617514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616402 S 2 1 0 FAM70B HuRef esv28810 13 113620149 113621419 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16075 S 451 1 3 FAM70B NA12004,NA12006,NA12489,NA19190 dgv1806n71 13 113637032 113918252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901097,nsv901098,nsv901096,nsv901093 M 6533 0 4 FAM70B,RASA3 IS32737,IS33504,IS33684,IS37172 esv2025644 13 113654592 113654910 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648590 S 1 0 1 "" NA18507 nsv826839 13 113758183 113949834 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435389 S 31 0 1 RASA3 NA18942 nsv518916 13 113759040 113835170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696376 S 2026 0 1 RASA3 nsv471177 13 113759040 113936115 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545470,nssv545471 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RASA3 HGDP00298,HGDP00612 dgv121n21 13 113759040 113948297 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527299,nsv524254 M 2026 0 2 RASA3 dgv1807n71 13 113770421 113822226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901104,nsv901099 M 6533 0 2 RASA3 IS40230,MS13770 dgv1808n71 13 113770421 113848234 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901101,nsv901100 M 6533 0 2 RASA3 IS35968,IS40396 dgv1809n71 13 113770421 113922772 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901102,nsv901103 M 6533 0 3 RASA3 IS33178,IS34057,IS39417 nsv64982 13 113771746 113771823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83560 M 24 RASA3 esv1152044 13 113771791 113771869 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701088 S 2 0 1 RASA3 HuRef esv3048 13 113774492 113774999 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25489 S 1 0 1 Single Asian sample YH RASA3 YH nsv901105 13 113781019 113867220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534737 S 6533 0 1 RASA3 MS11726 esv1954876 13 113782432 113782882 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527305 S 1 0 1 RASA3 NA18507 esv24032 13 113788131 113791186 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13108,esv10248 M 451 15 2 RASA3 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12006,NA12287,NA12749,NA15510,NA18502,NA18861,NA18916,NA19108,NA19114,NA19147,NA19190 esv2607681 13 113788561 113791146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389007 S 1 0 1 RASA3 NA18507 nsv512345 13 113788881 113791370 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624928 S 1 0 1 RASA3 1 esv1711123 13 113789486 113789744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305614 S 2 0 1 RASA3 HuRef esv2106853 13 113790119 113791211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562928 S 1 0 1 RASA3 NA18507 esv1443105 13 113790135 113790283 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759678 S 2 0 1 RASA3 HuRef esv1142582 13 113790296 113790702 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002346 S 2 0 1 RASA3 HuRef dgv3e22 13 113790726 113790857 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array esv1180759,esv1249191 M 2 0 1 RASA3 HuRef esv1025672 13 113792013 113792131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781245 S 2 0 1 RASA3 HuRef nsv1196 13 113795051 113818598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9501 S 9 1 0 RASA3 NA18507 esv3511 13 113803260 113803894 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25952 S 1 0 1 Single Asian sample YH RASA3 YH nsv64415 13 113813924 113814013 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv82993 M 24 RASA3 esv1636109 13 113816372 113816579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125733 S 2 0 1 RASA3 HuRef nsv901106 13 113817835 114025158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588810 S 6533 1 0 CDC16,RASA3 IS38252 esv2168491 13 113818389 113818743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733537 S 1 0 1 RASA3 NA18507 esv1949106 13 113822700 113823127 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590775 S 1 0 1 RASA3 NA18507 esv24269 13 113827183 113828145 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18419 S 451 0 1 RASA3 NA19190 esv1716683 13 113827629 113827681 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091370 S 2 0 1 RASA3 HuRef esv1482832 13 113827683 113828094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061564 S 2 0 1 RASA3 HuRef esv22933 13 113836222 113836717 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20585 S 451 1 0 RASA3 NA18858 esv6719 13 113836305 113836750 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29160 S 1 0 1 RASA3 SJK nsv438258 13 113851980 113853018 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470620,nssv470619,nssv470616,nssv470617 M 269 0 4 Samples from several populations that are part of the HapMap project. RASA3 NA18859,NA18860,NA18861,NA18863 esv2338969 13 113856277 113856722 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732739 S 1 0 1 RASA3 NA18507 esv995537 13 113856435 113856547 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571357 S 3 0 1 RASA3 HuRef esv2106399 13 113858872 113859309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853196 S 1 0 1 RASA3 NA18507 esv27815 13 113859030 113860050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20966 S 451 0 1 RASA3 NA18909 nsv901107 13 113861908 113918252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594765 S 6533 0 1 RASA3 IS40017 esv1462897 13 113864535 113864535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975359 S 2 1 0 RASA3 HuRef esv1621942 13 113864575 113864575 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660434 S 2 1 0 RASA3 HuRef esv1010513 13 113867015 113871243 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565072 S 3 0 1 RASA3 HuRef esv24173 13 113867078 113870763 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21076 S 451 3 3 RASA3 NA07037,NA12239,NA12828,NA19108,NA19225,NA19240 nsv512346 13 113867078 113870987 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624929 S 1 0 1 RASA3 1 nsv821504 13 113867208 113870763 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421079 S 1 0 1 RASA3 NA10851 esv1593867 13 113867380 113868946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049437 S 2 0 1 RASA3 HuRef esv1789942 13 113869345 113870533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825924 S 2 0 1 RASA3 HuRef nsv901108 13 113879204 113905078 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570785,nssv1575678 M 6533 1 1 RASA3 IS32322,IS33796 dgv1810n71 13 113879204 113913667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901110,nsv901109 M 6533 0 2 RASA3 IS33630,IS41634 nsv64635 13 113882512 113882739 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83213 M 24 RASA3 esv29166 13 113886967 113887969 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12758 S 451 0 5 RASA3 NA18508,NA18861,NA19108,NA19114,NA19240 esv997265 13 113887171 113887529 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575085 S 3 0 1 RASA3 HuRef esv1576861 13 113887258 113887773 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236267 S 2 0 1 RASA3 HuRef nsv64423 13 113887259 113887340 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83001 M 24 RASA3 nsv524968 13 113887971 113905078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700993 S 2026 0 1 RASA3 esv1009187 13 113891490 113892140 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586983 S 3 0 1 RASA3 HuRef esv1184420 13 113895014 113895090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080314 S 2 0 1 RASA3 HuRef nsv901111 13 113897434 113954191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573895 S 6533 0 1 RASA3 IS33504 esv272603 13 113900071 113900423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580074,essv2580401,essv2580938,essv2579368,essv2579789 M 7 5 0 Samples from several populations that are part of the HapMap project. RASA3 NA12878,NA12891,NA19238,NA19239,NA19240 esv271462 13 113900090 113900428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526001,essv2570855,essv2548355,essv2554025,essv2552226,essv2547274,essv2558249,essv2564666,essv2559690,essv2520064,essv2554923,essv2530677,essv2528576,essv2541947,essv2533811,essv2575698,essv2533306,essv2525118,essv2563374 M 157 19 0 Samples from several populations that are part of the HapMap project. RASA3 NA07051,NA07357,NA10847,NA11918,NA11993,NA12045,NA12287,NA12489,NA12717,NA12750,NA12751,NA12776,NA12815,NA12872,NA12873,NA12891,NA18856,NA18916,NA19099 esv2098450 13 113900175 113900606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643806 S 1 0 1 RASA3 NA18507 nsv901112 13 113901892 113991410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549856 S 6533 0 1 RASA3 MS18276 esv2544651 13 113902825 113904611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233361 S 1 0 1 RASA3 NA18507 esv1066402 13 113903208 113903947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857771 S 2 0 1 RASA3 HuRef nsv512347 13 113921683 113923413 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624930 S 1 0 1 "" 1 esv2581146 13 113921697 113923769 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364014 S 1 0 1 "" NA18507 esv26306 13 113921740 113923685 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17397 S 451 7 0 "" NA18505,NA18508,NA18523,NA18907,NA19129,NA19190,NA19225 nsv820704 13 113921740 113923685 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421081 S 1 0 1 "" NA10851 esv1610160 13 113923204 113923360 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978055 S 2 0 1 "" HuRef esv2389549 13 113927068 113927450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749197 S 1 0 1 "" NA18507 nsv1197 13 113932521 113966963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1175 S 9 1 0 "" NA19240 esv22948 13 113938397 113940397 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19163,esv16000 M 451 5 1 "" NA06985,NA12006,NA12044,NA12156,NA15510,NA18916 nsv511523 13 113938930 113947044 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626145 S 1 1 0 "" 1 nsv513404 13 113939072 113939847 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625802 S 1 1 0 "" 1 nsv901113 13 113948297 113978334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580571 S 6533 0 1 "" IS35380 nsv832728 13 113949315 114030638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450497 S 95 1 0 CDC16 nsv456140 13 113955396 113995800 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533530 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00886 nsv901114 13 113966676 114038613 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534501 S 6533 1 0 CDC16 MS11635 nsv456142 13 113978334 114004996 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533532 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00613 nsv901115 13 113978334 114085395 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596695 S 6533 1 0 CDC16,UPF3A IS40616 esv25715 13 113981925 114127942 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10503,esv14379,esv18856,esv10621,esv19157 M 451 1 13 CDC16,UPF3A,ZNF828 NA06985,NA11993,NA12044,NA12156,NA12287,NA12489,NA12749,NA12828,NA18861,NA19108,NA19114,NA19129,NA19190 esv2240133 13 113982038 113982631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611440 S 1 0 1 "" NA18507 nsv521609 13 114004996 114025158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698226 S 2026 1 0 CDC16 nsv826840 13 114008663 114010121 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425295 S 31 0 1 "" AK2 esv2469525 13 114014126 114015585 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230955 S 1 0 1 "" NA18507 esv1501596 13 114014940 114014997 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046828 S 2 0 1 "" HuRef nsv901116 13 114016178 114071257 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590921,nssv1572760 M 6533 2 0 CDC16,UPF3A IS33175,IS38603 nsv456143 13 114025158 114061118 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533533 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDC16 HGDP00423 nsv819891 13 114058221 114063330 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419684 S 2 0 1 "" AK1 nsv826841 13 114076978 114077994 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437735 S 31 0 1 UPF3A NA18949 esv1000540 13 114078878 114078878 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566575 S 3 1 0 UPF3A HuRef esv1401261 13 114079017 114079017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111194 S 2 1 0 UPF3A HuRef nsv64869 13 114079018 114079018 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv83447 M 24 UPF3A nsv518491 13 114082584 114121252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695931 S 2026 0 1 UPF3A,ZNF828 nsv516205 13 114108121 114121252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683667,nssv683738,nssv666816,nssv701868 M 2026 0 4 ZNF828 esv23873 14 18070219 19495152 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16177,esv10429,esv15194,esv15214,esv14974,esv10811,esv12350,esv13270,esv14995,esv15358,esv12476,esv17348,esv20090,esv16766,esv19840,esv12139,esv15155,esv12581,esv15791,esv11201,esv18240,esv21101,esv17878,esv19593,esv13786,esv13619,esv20053,esv19513,esv12353,esv18942,esv13399,esv13730,esv20249,esv11374,esv14355,esv12141,esv15029 M 451 29 34 OR11H12,OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEG,POTEM NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv3165 14 18076844 18114586 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25606 S 1 0 0 Single Asian sample YH "" YH nsv510626 14 18077979 18128310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618910 S 4 0 1 "" NA10860 nsv513405 14 18082586 18083412 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625803 S 1 1 0 "" 1 esv6572 14 18083437 18089095 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29013 S 1 0 1 "" SJK esv7176 14 18107288 18107381 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29617 S 1 1 0 "" SJK esv33527 14 18187183 19494445 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98132,essv101343,essv96342 M 51 2 1 OR11H12,OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEG,POTEM 21772,21805,22371 nsv820487 14 18259577 18395108 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421082 S 1 1 0 "" NA10851 nsv436176 14 18327827 18335520 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466752 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv819711 14 18419922 19494696 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418810 S 2 0 1 OR11H12,OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEG,POTEM AK1 nsv9117 14 18427834 19495241 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21938,nssv19331,nssv23575,nssv24454,nssv20986,nssv24973,nssv19385,nssv21198,nssv21168,nssv24532,nssv20796,nssv19642,nssv19702,nssv21288,nssv21016,nssv23843,nssv24518,nssv23789,nssv24466,nssv22118,nssv24632,nssv21737,nssv23762,nssv21839,nssv24544,nssv19241,nssv20664,nssv22678,nssv21939,nssv20966,nssv20724,nssv21565,nssv18880,nssv21200,nssv22117,nssv22618,nssv24494,nssv19511,nssv23897,nssv19451,nssv21334,nssv19481,nssv21795,nssv26641,nssv23603,nssv24506,nssv18910,nssv20162,nssv21535,nssv21170,nssv20996,nssv21998,nssv23816,nssv21968,nssv20973,nssv25023,nssv24998,nssv20694,nssv24442,nssv19361,nssv24520,nssv21228,nssv22147,nssv21797,nssv21825,nssv24492,nssv19301,nssv22057,nssv20766,nssv24682,nssv23870,nssv24630,nssv26654,nssv19399,nssv20936,nssv25048,nssv22058,nssv24468,nssv21677,nssv24440,nssv20192,nssv21364,nssv24734,nssv21869,nssv24656,nssv24708,nssv24480,nssv19271,nssv21258,nssv24692,nssv21827,nssv19672,nssv21855,nssv22148,nssv18940,nssv21707,nssv22648,nssv19391,nssv24948,nssv21885,nssv21899,nssv21318,nssv24546,nssv22028,nssv24558 M 31 9 30 Samples from several populations that are part of the HapMap project. OR11H12,OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEG,POTEM NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv7248 14 18463289 19162026 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10007,nssv2059,nssv9502,nssv5489,nssv6581 M 9 0 0 POTEG,POTEM NA12156,NA18507,NA18555,NA18956,NA19129 dgv357n67 14 18500439 18544972 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826845,nsv826844,nsv826843,nsv826846,nsv826847 M 31 11 0 "" AK12,NA18526,NA18542,NA18552,NA18566,NA18582,NA18947,NA18949,NA18951,NA18972,NA18999 dgv358n67 14 18512917 18544972 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826848,nsv826850,nsv826849 M 31 9 0 "" AK10,AK14,AK2,AK20,AK4,NA18564,NA18592,NA18968,NA18973 nsv442678 14 18521076 18539520 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv510627 14 18522922 18558749 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618911,nssv622680,nssv620069 M 4 0 3 "" NA10860,NA15510,NA18994 dgv359n67 14 18527671 18544972 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826851,nsv826852 M 31 0 2 "" NA18570,NA18942 nsv514723 14 18527870 18530692 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627127 S 1414 0 0 "" nsv1198 14 18528811 18550702 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10008 S 9 0 1 "" NA18956 nsv514724 14 18532320 18537236 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627128 S 1414 0 0 "" esv1005804 14 18556149 19155846 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563794 S 3 0 0 POTEG,POTEM HuRef nsv832729 14 18559876 18733123 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450524,nssv1450508,nssv1450502,nssv1450507,nssv1450523,nssv1450520,nssv1450519,nssv1450522,nssv1450521,nssv1450526,nssv1450501,nssv1450525,nssv1450532,nssv1450531,nssv1450527,nssv1450528,nssv1450500,nssv1450535,nssv1450534,nssv1450533,nssv1450499,nssv1450498,nssv1450504,nssv1450505,nssv1450511,nssv1450516,nssv1450530,nssv1450510,nssv1450509,nssv1450515,nssv1450503,nssv1450514,nssv1450512,nssv1450513 M 95 33 1 POTEG nsv514725 14 18621476 18626584 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627129 S 1414 0 0 POTEG nsv471368 14 18623365 18654942 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548087,nssv548090,nssv548088 M 3 POTEG dgv360n67 14 18631920 18798841 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826855,nsv826857,nsv826856,nsv826854 M 31 6 0 POTEG AK18,NA18547,NA18566,NA18951,NA18972,NA18997 dgv45e180 14 18632127 19494455 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994636,esv1003217 M 3 0 1 OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEG,POTEM HuRef nsv514726 14 18642528 18644196 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627132 S 1414 0 0 POTEG nsv832730 14 18662310 18987252 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450541,nssv1450536,nssv1450538,nssv1450537,nssv1450544,nssv1450547,nssv1450552,nssv1450546,nssv1450549,nssv1450548,nssv1450550,nssv1450554,nssv1450560,nssv1450559,nssv1450555,nssv1450556,nssv1450558,nssv1450539,nssv1450557,nssv1450569,nssv1450563,nssv1450545,nssv1450568,nssv1450577,nssv1450565,nssv1450567,nssv1450564,nssv1450566,nssv1450572,nssv1450570,nssv1450571,nssv1450576,nssv1450574,nssv1450575,nssv1450582,nssv1450578,nssv1450579,nssv1450542,nssv1450581,nssv1450543,nssv1450580,nssv1450583,nssv1450553,nssv1450561,nssv1450585 M 95 44 1 "" nsv901117 14 18712571 19493705 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594154 S 6533 1 0 OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEM IS39716 dgv598e1 14 18732531 19070091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5284,essv10210,essv15823,essv587,essv269,essv5041,essv2053,essv22120,essv2492,essv1382,essv17459,essv20332,essv7379,essv20157,essv17208,essv23437,essv2184,essv9597,essv17624,essv11719,essv9044,essv11786,essv24402,essv14626,essv14450,essv6240,essv20913,essv11496,essv17667,essv5742,essv14098,essv19093,essv19780,essv21165,essv19666,essv9242,essv9684,essv12385,essv23654,essv17067,essv18301,essv2308,essv12631,essv24750,essv16823 M 271 0 0 POTEM NA07055,NA10835,NA10846,NA10854,NA10857,NA10860,NA10863,NA11830,NA11832,NA11881,NA12043,NA12236,NA12264,NA12707,NA12753,NA12801,NA18500,NA18504,NA18576,NA18593,NA18623,NA18624,NA18636,NA18861,NA18913,NA18940,NA18949,NA18960,NA18978,NA18998,NA19003,NA19007,NA19093,NA19128,NA19132,NA19141,NA19152,NA19154,NA19171,NA19172,NA19173,NA19201,NA19205,NA19223,NA19238 dgv599e1 14 18732531 19626027 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3307,essv8861,essv4671,essv18221,essv20119,essv1508,essv24715,essv15565,essv12001,essv7698,essv11810,essv23984,essv20308,essv10427,essv3188,essv10772,essv20763,essv24274,essv2589,essv1027,essv13610,essv8760,essv19615,essv23203,essv9150,essv12175,essv13715,essv12342,essv7801,essv15137,essv18617,essv9946,essv12785,essv14196,essv11133,essv23930,essv24909,essv13577,essv16921,essv15723,essv16679,essv23543,essv21003,essv5157,essv18077,essv27,essv5084,essv17550,essv16448,essv16274,essv4883,essv16514,essv14705,essv13429,essv5217,essv14357,essv1169,essv24044,essv11453,essv15672,essv9396,essv13802,essv7225,esv773,essv13911,essv22517,essv24893,essv19443,essv15264,essv19959,essv8348,essv13000,essv24594,essv18824,essv15350,essv9774,essv15009,essv18329,essv424,essv22932,essv21403,essv21980,essv22554,essv4458,essv12745,essv12464,essv13184,essv17808,essv1426,essv22810,essv24135,essv3698,essv21309,essv5458,essv20633,essv20572,essv19017,essv11927,essv2442,essv1144,essv3014,essv2237,essv2623,essv167,essv18736,essv17262,essv15475,essv10309,essv20071,essv22226 M 271 0 0 OR11H2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4Q3,POTEM NA06991,NA06993,NA06994,NA07000,NA07048,NA07056,NA07345,NA07348,NA07357,NA10831,NA10847,NA10856,NA10859,NA11829,NA11840,NA11882,NA11992,NA11994,NA11995,NA12004,NA12005,NA12044,NA12057,NA12144,NA12145,NA12146,NA12155,NA12156,NA12234,NA12716,NA12740,NA12751,NA12762,NA12813,NA12814,NA12874,NA12878,NA12892,NA18502,NA18503,NA18505,NA18506,NA18508,NA18517,NA18521,NA18523,NA18547,NA18552,NA18558,NA18561,NA18564,NA18577,NA18611,NA18622,NA18632,NA18633,NA18853,NA18854,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18870,NA18912,NA18914,NA18944,NA18947,NA18951,NA18952,NA18964,NA18966,NA18967,NA18968,NA18972,NA18974,NA18980,NA18981,NA18990,NA18991,NA18999,NA19005,NA19092,NA19094,NA19101,NA19102,NA19119,NA19120,NA19127,NA19129,NA19131,NA19137,NA19138,NA19139,NA19140,NA19142,NA19144,NA19145,NA19153,NA19159,NA19160,NA19161,NA19192,NA19194,NA19207,NA19210,NA19211,NA19222 nsv428292 14 18732531 19626027 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452430,nssv452407,nssv452439,nssv452421,nssv452432,nssv452429,nssv452419,nssv452413,nssv452436,nssv452411,nssv452425,nssv452437,nssv452412,nssv452422,nssv452426,nssv452417,nssv452427,nssv452433,nssv452415,nssv452416,nssv452424,nssv452418,nssv452428,nssv452434,nssv452408,nssv452410,nssv452438,nssv452435,nssv452423,nssv452414 M 62 5 25 OR11H2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4Q3,POTEM HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv433422 14 18740757 19400957 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463303 S 9 1 0 Samples from several populations that are part of the HapMap project. OR11H2,OR4M1,OR4N2,OR4Q3,POTEM NA19240 esv1001635 14 18794499 18809555 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586464 S 3 0 1 "" HuRef nsv511028 14 18814351 18901225 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622402 S 4 0 0 "" NA10860 nsv1200 14 18820618 18865630 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9169 S 9 0 1 "" NA12156 dgv1811n71 14 18825136 19502504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901126,nsv901123,nsv901118,nsv901121,nsv901134,nsv901133,nsv901127,nsv901119,nsv901120,nsv901128,nsv901122 M 6533 14 0 OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEM IS30228,IS30635,IS30683,IS31369,IS32607,IS38123,IS38219,MS13538,MS14305,MS18956,MS19159,MS20361,MS25683,SP52025 nsv509525 14 18849142 18885351 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620996,nssv623658 M 4 2 0 "" NA15510,NA18994 nsv514727 14 18851428 18852016 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627133 S 1414 0 0 "" esv1001162 14 18861357 18887087 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586085 S 3 0 1 "" HuRef nsv826858 14 18863089 18919650 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428622,nssv1440631,nssv1429419,nssv1429841,nssv1438426,nssv1422090,nssv1422136,nssv1425298,nssv1433164,nssv1431606 M 31 10 0 "" AK10,AK18,AK2,NA18547,NA18564,NA18947,NA18951,NA18968,NA18972,NA18997 nsv832731 14 18882916 19042636 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450621,nssv1450608,nssv1450594,nssv1450598,nssv1450612,nssv1450603,nssv1450610,nssv1450611,nssv1450614,nssv1450613,nssv1450616,nssv1450620,nssv1450619,nssv1450618,nssv1450624,nssv1450602,nssv1450623,nssv1450622,nssv1450627,nssv1450625,nssv1450626,nssv1450604,nssv1450597,nssv1450605,nssv1450596,nssv1450609,nssv1450607,nssv1450593,nssv1450615,nssv1450601,nssv1450599,nssv1450592,nssv1450600,nssv1450586,nssv1450591,nssv1450590,nssv1450589,nssv1450587,nssv1450588 M 95 39 0 "" nsv436829 14 18884568 19253139 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466753 S 2 1 0 Samples from several populations that are part of the HapMap project. OR11H2,POTEM NA18505 esv1004954 14 18898844 18923304 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586586 S 3 0 1 "" HuRef dgv1812n71 14 18905128 19336854 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901125,nsv901132,nsv901124 M 6533 4 0 OR11H2,OR4M1,OR4Q3,POTEM IS30923,IS31286,IS32523,IS35788 dgv600e1 14 18908252 19070091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv648,essv6344,essv4278,essv21836,essv7770,essv8649 M 271 0 0 POTEM NA11839,NA18542,NA18603,NA18609,NA18975,NA19239 dgv601e1 14 18908252 19626027 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6563,essv4425,essv7296,essv5581,essv17883,essv1771,essv3732 M 271 0 0 OR11H2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4Q3,POTEM NA12003,NA18529,NA18573,NA18592,NA18621,NA18961,NA18997 dgv1813n71 14 18987123 19283777 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901129,nsv901130,nsv901131 M 6533 3 0 OR11H2,POTEM IS38575,MS10361,MS10549 dgv1814n71 14 19030967 19494891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901141,nsv901142,nsv901135 M 6533 3 0 OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3,POTEM IS33040,IS41043,MS11971 nsv509526 14 19039048 19081575 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620997 S 4 1 0 POTEM NA15510 nsv832732 14 19043164 19219012 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450630 S 95 0 1 POTEM nsv901136 14 19049813 19142623 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529010,nssv1540182 M 6533 2 0 POTEM MS14724,SP81417 dgv1815n71 14 19049813 19226775 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901137,nsv901145 M 6533 0 3 POTEM IS30479,IS35963,IS40703 nsv901138 14 19049813 19249891 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571312 S 6533 1 0 POTEM IS32680 nsv901139 14 19049813 19283777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537614 S 6533 0 1 OR11H2,POTEM MS13257 dgv1816n71 14 19049813 19375271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901140,nsv901153,nsv901154,nsv901146 M 6533 5 0 OR11H2,OR4M1,OR4N2,OR4Q3,POTEM IS39205,IS41168,MS14216,MS21737,SP52633 dgv1817n71 14 19086857 19154003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901144,nsv901143,nsv901148,nsv901147 M 6533 0 7 POTEM IS31479,IS34124,IS34700,IS38660,IS38696,IS40707,MS12180 nsv901149 14 19093120 19166663 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545715,nssv1529301,nssv1571227 M 6533 1 2 "" IS32651,MS16918,SP81501 dgv1818n71 14 19093120 19249891 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv901150,nsv901152,nsv901151 M 6533 6 4 "" IS33850,IS35244,IS37825,IS39325,IS40877,MS12823,SP51290,SP52416,SP53550,SP58182 dgv1819n71 14 19093120 19515210 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901157,nsv901156,nsv901177,nsv901212,nsv901175,nsv901155,nsv901176,nsv901183,nsv901178,nsv901169,nsv901184,nsv901188,nsv901185,nsv901186,nsv901170,nsv901158,nsv901193,nsv901191,nsv901211,nsv901204,nsv901203,nsv901214,nsv901213,nsv901205,nsv901207,nsv901206,nsv901209,nsv901210,nsv901187,nsv901159,nsv901208 M 6533 105 0 OR11H2,OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS30127,IS30196,IS30210,IS30319,IS30331,IS30406,IS30411,IS30522,IS30742,IS30771,IS31205,IS31359,IS31576,IS31649,IS31679,IS31758,IS31821,IS32998,IS33487,IS33531,IS33580,IS33832,IS33864,IS34262,IS34422,IS34782,IS35138,IS35176,IS35271,IS35484,IS35973,IS36640,IS36785,IS36981,IS37985,IS38002,IS38254,IS38263,IS38271,IS38348,IS38403,IS38487,IS38515,IS38583,IS38592,IS38630,IS38736,IS39414,IS39626,IS39784,IS40024,IS40029,IS40292,IS40356,IS40944,IS41128,IS41809,IS41868,MS10227,MS10381,MS12206,MS12624,MS12724,MS12860,MS13162,MS13240,MS13253,MS14256,MS15232,MS15340,MS16268,MS16477,MS16531,MS16711,MS17872,MS18837,MS18843,MS19161,MS20888,MS21214,MS21356,MS21721,MS25304,MS25373,MS25579,SP50896,SP50985,SP51256,SP51359,SP52412,SP53516,SP54802,SP55539,SP55829,SP56260,SP56840,SP56909,SP57045,SP57410,SP57973,SP58236,SP58310,SP81143,SP81349,SP81407 dgv6n31 14 19093852 19393002 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471524,nsv471528,nsv471526 M 3 OR11H2,OR4M1,OR4N2,OR4Q3 nsv901160 14 19099309 19166663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502796 S 6533 0 1 "" SP51413 dgv1820n71 14 19099309 19236108 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901173,nsv901161,nsv901166,nsv901164,nsv901165 M 6533 9 0 "" IS34051,IS36519,IS38050,IS40373,MS11054,MS11923,MS13359,SP54937,SP57599 dgv1821n71 14 19114348 19154003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901171,nsv901162 M 6533 0 3 "" IS37963,MS13762,SP51241 dgv1822n71 14 19114348 19166663 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv901163,nsv901172 M 6533 3 2 "" IS33087,IS35768,IS37820,IS38457,MS24701 dgv1823n71 14 19114348 19317620 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901196,nsv901174,nsv901195,nsv901179,nsv901180,nsv901194,nsv901197,nsv901167 M 6533 12 0 OR11H2,OR4Q3 IS31082,IS31330,IS33148,IS35236,IS37577,IS38030,IS39714,IS39944,IS40368,MS10699,MS17056,MS22928 nsv901168 14 19114348 19463414 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547347,nssv1587644 M 6533 1 1 OR11H2,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS38081,MS17321 dgv1824n71 14 19145427 19375271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901182,nsv901181,nsv901189,nsv901190,nsv901201,nsv901200,nsv901199 M 6533 14 0 OR11H2,OR4M1,OR4N2,OR4Q3 IS30193,IS31094,IS33196,IS35572,IS38131,IS39119,IS39666,IS41780,IS41944,MS18021,SP52438,SP54627,SP54816,SP58164 dgv24n68 14 19150166 19341196 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832734,nsv832733 M 95 72 0 OR11H2,OR4M1,OR4Q3 nsv901192 14 19154003 19470840 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556192 S 6533 0 1 OR11H2,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 MS21857 nsv826859 14 19154992 19216417 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431607,nssv1422102,nssv1422921,nssv1429430,nssv1422137,nssv1433165 M 31 6 0 "" AK18,NA18547,NA18552,NA18968,NA18972,NA18997 nsv901198 14 19166663 19335041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588063 S 6533 0 1 OR11H2,OR4M1,OR4Q3 IS38151 nsv901202 14 19166663 19419332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513056 S 6533 1 0 OR11H2,OR4K2,OR4M1,OR4N2,OR4Q3 SP55671 nsv901215 14 19207427 19301051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568322 S 6533 1 0 OR11H2,OR4Q3 IS31233 dgv1825n71 14 19207427 19375271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901218,nsv901219,nsv901217,nsv901216 M 6533 5 0 OR11H2,OR4M1,OR4N2,OR4Q3 IS34489,IS38594,SP50058,SP54846,SP81241 dgv1826n71 14 19207427 19529742 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901248,nsv901230,nsv901229,nsv901226,nsv901227,nsv901254,nsv901231,nsv901224,nsv901251,nsv901233,nsv901249,nsv901221,nsv901246,nsv901253,nsv901252,nsv901220,nsv901247,nsv901223,nsv901250,nsv901234,nsv901244,nsv901235,nsv901225,nsv901232,nsv901222 M 6533 97 0 OR11H2,OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS30133,IS30141,IS31282,IS31563,IS32918,IS33684,IS33757,IS34346,IS34768,IS34791,IS34954,IS35107,IS35510,IS35777,IS35783,IS35880,IS35909,IS36046,IS37065,IS37443,IS37976,IS38239,IS38495,IS39792,IS40031,IS40157,IS40304,IS40492,IS40898,IS40907,IS41648,IS41754,IS41860,IS41862,IS41918,IS41940,IS41955,MS10378,MS11331,MS12003,MS12506,MS12644,MS14164,MS14289,MS15410,MS15428,MS15672,MS15749,MS16423,MS16616,MS17271,MS18917,MS19630,MS20073,MS20305,MS20813,MS21528,MS21532,MS22179,MS22748,MS22765,MS22789,MS22863,MS22962,MS22968,MS23160,MS23332,MS23648,MS24837,MS25255,MS26073,SP50979,SP51102,SP51477,SP52035,SP52409,SP52430,SP52566,SP52719,SP54090,SP54672,SP54967,SP54988,SP55797,SP55851,SP55856,SP56731,SP57269,SP57482,SP58097,SP58202,SP58506,SP80953,SP81015,SP81120,SP81385,SP81416 dgv602e1 14 19215884 19543920 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7887,essv4774,essv20978,essv3585,essv8198,essv2398,essv20815,essv2145,essv1308,essv3331,essv14832,essv1071,essv1542,essv1675,essv3596,essv13286,essv2379,essv9453,essv6088,essv550,essv23388,essv3491,essv5843,essv23262,essv8642,essv757,essv1368,essv2929,essv22607,essv3173,essv3244,essv22784,essv17869,essv12098,essv4542,essv7586,essv8316,essv3675,essv21353,essv5696,essv19706,essv7455,essv7675,essv15441,essv4129,essv11334,essv22711,essv17391,essv12069,essv1805,essv20731,essv14912,essv9963,essv10581,essv17327,essv21926,essv7048,essv20466,essv3844,essv5082,essv10509,essv24947,essv937,essv7958,essv11624,essv21477,essv1560,essv4320,essv17404,essv5658,essv23311,essv8715,essv6903,essv5668,essv4208,essv14581,essv6406,essv8575,essv12135,essv2765,essv19474,essv21637,essv13312,essv4517,essv25054,essv5329,essv7249,essv7102,essv20386,essv21907,essv6481,essv18675,essv5420,essv6457,essv11398,essv25175,essv19078,essv19872,essv20706,essv5909,essv11558,essv16579,essv18907,essv19153,essv4667,essv11469,essv17219,essv6927,essv5884,essv6791,essv25018,essv19338,essv5611,essv25089,essv18538,essv22011,essv4588,essv7978,essv24556,essv1336,essv12036,essv24349,essv916,essv19797,essv5639,essv10881,essv6947,essv13983,essv8019,essv13387,essv19203,essv16618,essv19317,essv6452,essv14931,essv24030,essv10464,essv9724,essv19031,essv15914,essv16374,essv1632,essv1985,essv3819,essv9,essv7900,essv18778,essv21424,essv22700,essv7652,essv6202,essv18553,essv3423,essv2108,essv3904,essv17692,essv23285,essv1043,essv21108,essv2738,essv23752,essv23095,essv5880,essv8904,essv5014,essv1698,essv3937,essv7999 M 271 0 0 OR11H2,OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 NA06985,NA07029,NA07034,NA10830,NA10835,NA10838,NA10839,NA10851,NA10854,NA10855,NA10857,NA10860,NA10863,NA11830,NA11831,NA11840,NA11881,NA11993,NA11994,NA12004,NA12006,NA12043,NA12056,NA12057,NA12154,NA12236,NA12239,NA12249,NA12264,NA12707,NA12717,NA12750,NA12752,NA12753,NA12760,NA12761,NA12801,NA12802,NA12812,NA12814,NA12815,NA12864,NA12865,NA12872,NA12873,NA12891,NA18507,NA18515,NA18524,NA18526,NA18537,NA18542,NA18545,NA18550,NA18555,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18576,NA18579,NA18582,NA18592,NA18593,NA18594,NA18605,NA18608,NA18609,NA18612,NA18620,NA18621,NA18623,NA18632,NA18635,NA18636,NA18637,NA18855,NA18856,NA18857,NA18871,NA18872,NA18913,NA18942,NA18943,NA18945,NA18948,NA18949,NA18953,NA18956,NA18959,NA18960,NA18965,NA18967,NA18968,NA18969,NA18970,NA18971,NA18973,NA18975,NA18976,NA18978,NA18980,NA18987,NA18990,NA18992,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19007,NA19012,NA19098,NA19099,NA19103,NA19116,NA19119,NA19128,NA19129,NA19130,NA19132,NA19140,NA19143,NA19154,NA19171,NA19172,NA19173,NA19192,NA19193,NA19200,NA19202,NA19203,NA19204,NA19205,NA19206,NA19208,NA19221,NA19238,NA19239,NA19240 dgv603e1 14 19215884 19626027 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10196,essv1220,essv22302,essv10138,essv8442,essv23609,essv24521,essv21117,essv17198,essv19500,essv22095,essv3518 M 271 0 0 OR11H2,OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4Q3 NA06985,NA12006,NA12154,NA12802,NA12815,NA12864,NA18516,NA18965,NA18995,NA19130,NA19171 dgv1827n71 14 19226775 19375271 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv901241,nsv901267,nsv901228 M 6533 6 3 OR11H2,OR4M1,OR4N2,OR4Q3 IS34383,IS34613,IS37488,IS38064,IS39515,IS40307,MS20987,MS21536,SP50633 dgv1828n71 14 19236108 19294807 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901236,nsv901255 M 6533 2 0 OR11H2,OR4Q3 SP51238,SP56960 dgv1829n71 14 19236108 19336854 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901239,nsv901256,nsv901238,nsv901237 M 6533 5 0 OR11H2,OR4M1,OR4Q3 IS32736,IS38180,MS11923,MS16064,SP56797 dgv1830n71 14 19236108 19387587 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901283,nsv901305,nsv901243,nsv901242,nsv901240,nsv901282,nsv901257,nsv901266 M 6533 23 0 OR11H2,OR4M1,OR4N2,OR4Q3 IS30668,IS30953,IS33475,IS34531,IS34630,IS35506,IS36492,IS38103,IS38209,IS38616,IS38618,IS38987,IS39347,IS40234,IS40557,IS40681,IS41562,IS41869,MS22440,SP52455,SP55355,SP56987,SP58556 dgv1831n71 14 19236108 19486339 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv901288,nsv901289,nsv901329,nsv901370,nsv901292,nsv901327,nsv901343,nsv901345,nsv901284,nsv901245,nsv901362,nsv901273,nsv901271 M 6533 154 32 OR11H2,OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS30039,IS30051,IS30054,IS30201,IS30245,IS30267,IS30368,IS30423,IS30467,IS30477,IS30531,IS30532,IS30609,IS30694,IS30764,IS30969,IS31207,IS31372,IS31763,IS31799,IS32446,IS32770,IS32805,IS32819,IS33123,IS33162,IS33178,IS33494,IS33588,IS33601,IS33636,IS33651,IS33726,IS33836,IS33879,IS33948,IS34257,IS34440,IS34632,IS34747,IS34749,IS34762,IS34786,IS34964,IS35100,IS35111,IS35441,IS35445,IS35487,IS35691,IS35974,IS36219,IS36527,IS36532,IS36533,IS36787,IS36798,IS36973,IS37329,IS37456,IS37543,IS37609,IS37651,IS37752,IS37979,IS38106,IS38141,IS38161,IS38252,IS38362,IS38402,IS38410,IS38544,IS38585,IS38696,IS39113,IS39373,IS39475,IS39494,IS39564,IS40027,IS40346,IS40396,IS40416,IS40680,IS40729,IS40815,IS40825,IS40839,IS40902,IS40955,IS41102,IS41284,IS41410,IS41581,IS41647,IS41801,IS41840,MS10698,MS10784,MS10867,MS10897,MS11002,MS11171,MS11276,MS11396,MS11435,MS11791,MS12154,MS12638,MS12688,MS12868,MS13143,MS13157,MS13252,MS13288,MS13774,MS14433,MS14761,MS14801,MS14837,MS14939,MS14984,MS15291,MS15312,MS15371,MS15707,MS15841,MS16125,MS16588,MS16591,MS16611,MS16707,MS16783,MS16796,MS16940,MS16961,MS17235,MS17678,MS17915,MS18070,MS18205,MS18376,MS18948,MS19438,MS19487,MS19746,MS19922,MS20170,MS20459,MS20718,MS21390,MS22499,MS22653,MS23105,MS23147,MS23714,MS24056,MS24439,MS24498,MS24769,MS24900,MS25014,MS25219,MS25402,MS25580,SP50086,SP50828,SP52331,SP52893,SP53240,SP53895,SP53914,SP53988,SP54069,SP54177,SP55179,SP55417,SP56875,SP56957,SP57058,SP57540,SP58305,SP58575,SP80967,SP80969 dgv1832n71 14 19249891 19443793 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901285,nsv901319,nsv901258,nsv901318 M 6533 5 0 OR11H2,OR4K2,OR4M1,OR4N2,OR4Q3 SP50156,SP51368,SP55279,SP56231,SP57779 dgv1833n71 14 19249891 19464184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901269,nsv901259 M 6533 0 8 OR11H2,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS32312,IS40482,MS10592,MS11487,MS12719,MS25769,MS25782,SP50772 dgv1834n71 14 19249891 19515210 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901262,nsv901294,nsv901307,nsv901297,nsv901272,nsv901276,nsv901293,nsv901310,nsv901270,nsv901311,nsv901320,nsv901322,nsv901291,nsv901323,nsv901314,nsv901309,nsv901315,nsv901279,nsv901277,nsv901287,nsv901313,nsv901316,nsv901261,nsv901306,nsv901296,nsv901295,nsv901278,nsv901308,nsv901312,nsv901324,nsv901290,nsv901264,nsv901286,nsv901263,nsv901275,nsv901274,nsv901265,nsv901260,nsv901321,nsv901298,nsv901325 M 6533 326 0 OR11H2,OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS30098,IS30118,IS30197,IS30204,IS30284,IS30307,IS30508,IS30720,IS31011,IS31090,IS31257,IS31419,IS31748,IS31832,IS31920,IS32680,IS32714,IS32871,IS33143,IS33248,IS33419,IS33460,IS33504,IS33508,IS33530,IS33551,IS33577,IS33691,IS33702,IS33776,IS33830,IS33959,IS34020,IS34051,IS34055,IS34458,IS34649,IS34737,IS34769,IS34779,IS34805,IS34811,IS34912,IS35083,IS35180,IS35312,IS35347,IS35349,IS35573,IS35622,IS35682,IS35910,IS35949,IS36022,IS36400,IS36936,IS36955,IS37030,IS37043,IS37110,IS37159,IS37172,IS37292,IS37321,IS37351,IS37628,IS37730,IS37738,IS37825,IS37860,IS37874,IS37915,IS37991,IS37999,IS38072,IS38112,IS38142,IS38210,IS38268,IS38281,IS38330,IS38341,IS38391,IS38457,IS38479,IS38603,IS38604,IS39057,IS39310,IS39320,IS39493,IS39529,IS39687,IS39788,IS39838,IS40005,IS40050,IS40086,IS40104,IS40105,IS40240,IS40310,IS40334,IS40387,IS40503,IS40511,IS40538,IS40552,IS40568,IS40570,IS40739,IS40819,IS40958,IS41066,IS41193,IS41213,IS41319,IS41771,IS41837,IS41852,IS41883,IS41887,IS41933,IS41984,IS41991,MS10187,MS10401,MS10441,MS10465,MS10548,MS10611,MS10665,MS10721,MS10727,MS10946,MS10994,MS11087,MS11119,MS11191,MS11284,MS11552,MS11635,MS11728,MS12466,MS12561,MS12780,MS12943,MS13168,MS13205,MS13441,MS13693,MS13777,MS14019,MS14258,MS14326,MS14421,MS14500,MS14544,MS14717,MS14728,MS14752,MS14828,MS14872,MS15175,MS15218,MS15307,MS15364,MS15539,MS15541,MS15727,MS15834,MS15907,MS15940,MS16124,MS16168,MS16228,MS16271,MS16308,MS16436,MS16708,MS16821,MS16918,MS16932,MS17017,MS17221,MS17431,MS17665,MS17809,MS18117,MS18159,MS18255,MS18648,MS18722,MS18799,MS19420,MS19466,MS19587,MS19634,MS19886,MS19891,MS20503,MS20717,MS20878,MS20891,MS21216,MS21225,MS21340,MS21515,MS21522,MS21671,MS21841,MS21866,MS22076,MS22093,MS22114,MS22678,MS23110,MS23541,MS23701,MS23725,MS23768,MS23796,MS23942,MS24051,MS24103,MS24151,MS24225,MS24339,MS24437,MS24477,MS24587,MS24701,MS24719,MS24733,MS24749,MS24951,MS25241,MS25294,MS25447,MS25728,MS25747,MS25756,MS25864,MS25940,MS25976,MS26140,SP50061,SP50085,SP50171,SP50823,SP50829,SP50870,SP50900,SP50904,SP50954,SP50973,SP51179,SP51290,SP51293,SP51380,SP51398,SP51411,SP51457,SP52077,SP52161,SP52329,SP52379,SP52428,SP52439,SP52713,SP52716,SP52951,SP53048,SP53347,SP53399,SP53491,SP53503,SP53539,SP53550,SP53759,SP53859,SP53969,SP54367,SP54406,SP54424,SP54552,SP54561,SP54648,SP54735,SP54884,SP54968,SP55034,SP55077,SP55117,SP55195,SP55407,SP55621,SP55670,SP55698,SP55699,SP55748,SP55847,SP55883,SP55937,SP56106,SP56107,SP56136,SP56200,SP56350,SP56848,SP56880,SP57010,SP57355,SP57599,SP57669,SP57875,SP58090,SP58553,SP80970,SP81005,SP81222,SP81345,SP81363,SP81408,SP81553,SP81571 nsv901268 14 19257823 19387587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572754 S 6533 0 1 OR4M1,OR4N2,OR4Q3 IS33175 dgv1835n71 14 19261709 19340504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901303,nsv901302,nsv901281,nsv901280,nsv901300,nsv901301 M 6533 10 0 OR4M1,OR4Q3 SP50631,SP50927,SP51158,SP52399,SP54782,SP55381,SP55433,SP55692,SP57243,SP57481 nsv901299 14 19261709 19826727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543055 S 6533 1 0 OR11G2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3 MS16036 nsv511546 14 19265721 19494891 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626170 S 1 1 0 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 1 esv1002355 14 19265758 19494732 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586689 S 3 0 1 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 HuRef dgv1836n71 14 19266058 19365189 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901304,nsv901317 M 6533 3 0 OR4M1,OR4Q3 SP50082,SP53448,SP55911 nsv821676 14 19267456 19468888 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421260,nssv1421266,nssv1421256,nssv1421258,nssv1421267,nssv1421270,nssv1421263,nssv1421253,nssv1421269,nssv1421259,nssv1421261,nssv1421262,nssv1421252,nssv1421264,nssv1421254,nssv1421265,nssv1421255,nssv1421271 M 31 18 0 OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 nsv826860 14 19268576 19367641 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424538 S 31 1 0 OR4M1,OR4N2,OR4Q3 NA18582 dgv361n67 14 19268576 19494455 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826862,nsv826861,nsv826863,nsv826865 M 31 8 0 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 AK10,AK2,NA18526,NA18564,NA18582,NA18592,NA18968,NA18997 nsv442679 14 19270023 19493212 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 esv2421752 14 19270023 19493705 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124098,essv5038744,essv5152982,essv5142117,essv5040859,essv5039877,essv5108776,essv5050243,essv5158573,essv5080419,essv5037694,essv5042730,essv5107280,essv5152220,essv5047625,essv5156187,essv5017160,essv5032005,essv5146910,essv5068236,essv5120852,essv5098795,essv5066621,essv5105935,essv5012836,essv5052289,essv5134457,essv5089807,essv5112627,essv5045565,essv5022821,essv5151777,essv5088331,essv5103703,essv5094807,essv5073708,essv5091875,essv5056595,essv5074358,essv5107922,essv5018059,essv5008538,essv5037838,essv5135545,essv5025530,essv5160698,essv5032377,essv5036525,essv5159260,essv5142083,essv5106348,essv5090035,essv5129845,essv5160406,essv5149070,essv5025421,essv5038292,essv5083784,essv5060295,essv5063236,essv5064263,essv5024304,essv5023762,essv5072644,essv5027560,essv5116327,essv5131745,essv5047452,essv5099907,essv5089117,essv5114912,essv5142665,essv5139711,essv5131053,essv5056165,essv5037549,essv5123621,essv5084547,essv5076605,essv5139349,essv5087282,essv5013151,essv5024441,essv5002416,essv5066042,essv5025354,essv5001950,essv5123912,essv5034571,essv5050231,essv5150753,essv5114774,essv5084106,essv5070587,essv5152245,essv5042254,essv5098457,essv5005638,essv5145158,essv5065913,essv5042498,essv5156171,essv5021709,essv5039204,essv5104692,essv5057451,essv5101641,essv5160361,essv5148581,essv5037408,essv5043069,essv5024343,essv5053593,essv5139076,essv5140751,essv5090695,essv5012184,essv5083371,essv5120193,essv5084558,essv5089656,essv5027354,essv5047863,essv5132595,essv5148862,essv5030270,essv5134115,essv5011998,essv5056318,essv5079299,essv5138688,essv5034729,essv5045126,essv5131871,essv5153232,essv5112329,essv5143903,essv5091089,essv5032420,essv5118401,essv5116886,essv5105465,essv5051172,essv5141542,essv5030607,essv5126060,essv5096641,essv5063588,essv5157741,essv5006398,essv5049907,essv5098272,essv5043578,essv5012949,essv5041093,essv5125248,essv5007530,essv5075736,essv5031171,essv5028844,essv5109233,essv5076375,essv5067980,essv5067962,essv5011484,essv5092973,essv5103550,essv5014032,essv5016208,essv5091999,essv5006042,essv5100540,essv5021816,essv5086677,essv5077256,essv5093466,essv5086393,essv5057805,essv5087666,essv5064560,essv5010104,essv5062709,essv5072646,essv5147163,essv5011091,essv5116387,essv5060040,essv5107128,essv5088591,essv5110808,essv5106469,essv5050183,essv5131781,essv5095513,essv5089714,essv5083044,essv5004794,essv5072624,essv5102524,essv5049072,essv5077852,essv5059226,essv5099122,essv5031114,essv5159249,essv5009655,essv5104472,essv5025760,essv5047873,essv5017140,essv5066884,essv5117254,essv5068693,essv5158201,essv5140883,essv5114966,essv5077894,essv5032370,essv5056048,essv5138856,essv5024454,essv5088132,essv5093203,essv5129860,essv5064586,essv5026125,essv5151559,essv5106543,essv5041920,essv5031060,essv5129735,essv5007007,essv5125207,essv5045043,essv5036507,essv5084468,essv5100830,essv5108432,essv5039993,essv5101116,essv5109128,essv5075161,essv5112685,essv5033390,essv5033677,essv5055218,essv5144321,essv5005545,essv5089973,essv5118921,essv5141374,essv5030398,essv5154902,essv5040481,essv5006641,essv5157847,essv5026143,essv5120817,essv5133844,essv5066334,essv5159678,essv5039285,essv5148999,essv5145458,essv5095308,essv5156662,essv5086133,essv5024246,essv5084170,essv5109762,essv5101654,essv5132722,essv5034906,essv5133965,essv5092551,essv5047646,essv5024202,essv5019470,essv5081567,essv5038947,essv5133783,essv5065709,essv5159842,essv5150668,essv5075048,essv5104773,essv5060834,essv5079018,essv5125315,essv5142431,essv5125159,essv5047919,essv5044267,essv5123160,essv5016232,essv5149349,essv5152194,essv5025649,essv5092572,essv5043267,essv5067399,essv5013155,essv5110228,essv5049742,essv5102912,essv5006473,essv5077622,essv5131777,essv5104632,essv5134491,essv5146927,essv5146548,essv5013949,essv5125037,essv5008842,essv5033179,essv5099348,essv5017892,essv5100400,essv5009224,essv5094887,essv5137541,essv5027765,essv5091147,essv5048383,essv5017193,essv5031810,essv5063905,essv5125068,essv5002624,essv5030789,essv5052891,essv5024638,essv5097319,essv5133399,essv5126280,essv5021848,essv5119723,essv5028827,essv5087108,essv5157002,essv5090131,essv5129367,essv5057781,essv5085722,essv5158840,essv5091333,essv5049880,essv5006501,essv5070887,essv5111926,essv5020314,essv5058471,essv5127151,essv5111432,essv5151202,essv5098344,essv5138734,essv5145518,essv5098641,essv5146885,essv5108327,essv5157216,essv5005073,essv5052256,essv5074601,essv5051487,essv5127183,essv5136503,essv5033910,essv5073473,essv5101937,essv5022373,essv5026728,essv5013293,essv5121767,essv5095815,essv5102967,essv5041848,essv5132650,essv5128614,essv5135555,essv5043021,essv5147594,essv5114906,essv5160110,essv5146806,essv5018314,essv5057970,essv5143108,essv5023834,essv5030062,essv5131221,essv5053644,essv5127305,essv5061641,essv5115332,essv5030237,essv5061005,essv5134155,essv5055690,essv5128521,essv5085872,essv5123064,essv5120753,essv5052018,essv5071464,essv5147480,essv5047160,essv5034123,essv5108208,essv5146282,essv5120233,essv5037128,essv5138155,essv5076473,essv5045134,essv5118336,essv5019998,essv5152052,essv5101960,essv5002369,essv5096214,essv5023218,essv5155401,essv5059948,essv5140273,essv5022331,essv5060157,essv5159604,essv5090779,essv5043743,essv5095150,essv5044590,essv5092483,essv5149704,essv5142700,essv5160201,essv5048379,essv5150094,essv5113708,essv5008190,essv5115770,essv5117779,essv5017860,essv5035336,essv5115676,essv5053809,essv5142355,essv5032984,essv5055786,essv5101572,essv5099200,essv5129228,essv5076628,essv5102802,essv5148079,essv5106604,essv5135004,essv5147573,essv5120854,essv5049817,essv5085216,essv5006804,essv5092233,essv5146755,essv5140410,essv5152372,essv5032907,essv5064964,essv5093522,essv5100266,essv5150778,essv5109086,essv5063116,essv5066272,essv5107519,essv5072536,essv5075097,essv5064633,essv5027923,essv5152259,essv5097434,essv5092723,essv5100116,essv5027113,essv5155703,essv5002984,essv5119757,essv5149971,essv5091831,essv5149283,essv5108893,essv5060164,essv5119254,essv5092024,essv5004252,essv5075546,essv5135628,essv5075001,essv5083769,essv5032027,essv5076176,essv5084561,essv5013457,essv5095262,essv5033058,essv5021349,essv5061965,essv5031336,essv5153201,essv5149162,essv5003235,essv5011736,essv5136096,essv5105696,essv5156460,essv5160657,essv5114069,essv5149122,essv5137275,essv5045536,essv5156823,essv5100728,essv5106437,essv5096745,essv5009324,essv5095434,essv5149580,essv5086596,essv5083112,essv5160879,essv5132006,essv5101356,essv5065344,essv5147456,essv5048251,essv5132158,essv5120025,essv5109079,essv5088785,essv5148877,essv5037361,essv5117841,essv5095398,essv5140980,essv5023623,essv5008608,essv5106733,essv5070448,essv5093011,essv5005804,essv5023785,essv5050100,essv5080264,essv5106110,essv5015574,essv5103406,essv5156114,essv5128889,essv5006003,essv5139966,essv5111139,essv5045414,essv5105583,essv5133489,essv5056484,essv5138322,essv5153125,essv5018634,essv5089673,essv5088619,essv5067127,essv5154550,essv5103833,essv5108779,essv5094581,essv5012678,essv5151332,essv5142866,essv5158795,essv5129405,essv5123088,essv5076816,essv5127798,essv5003566,essv5043657,essv5096288,essv5042866,essv5103789,essv5073384,essv5053204,essv5106294,essv5104822,essv5072969,essv5080290,essv5048739,essv5134206,essv5120167,essv5081898,essv5125111,essv5023842,essv5133005,essv5044154,essv5018171,essv5078599,essv5122547,essv5105938,essv5087404,essv5088154,essv5044722,essv5076112,essv5135256,essv5088907,essv5037149,essv5047559,essv5133416,essv5079294,essv5125952,essv5139257,essv5027789,essv5134814,essv5016280,essv5158054,essv5043323,essv5005269,essv5072744,essv5057864,essv5151139,essv5161131,essv5039534,essv5126655,essv5161021,essv5050095,essv5038163,essv5107824,essv5061304,essv5153918,essv5119416,essv5042340,essv5116514,essv5028701,essv5040366,essv5013592,essv5069853,essv5141248,essv5142458,essv5070709,essv5143066,essv5130113,essv5109434,essv5069024,essv5149503,essv5049555,essv5126862,essv5075226,essv5030534,essv5126063,essv5150239,essv5135454,essv5138592,essv5154996,essv5079317,essv5114741,essv5128153,essv5096301,essv5091187,essv5131047,essv5156741,essv5003920,essv5081691,essv5113489,essv5088767,essv5159841,essv5026067,essv5009629,essv5078631,essv5111994,essv5155002,essv5121865,essv5017075,essv5087011,essv5123493,essv5126171,essv5047909,essv5038934,essv5091912,essv5075931,essv5146756,essv5135879,essv5080757,essv5159554,essv5026988,essv5058110,essv5117805,essv5076573,essv5016180,essv5135924,essv5083575,essv5118286,essv5042617,essv5061166,essv5014368,essv5120572,essv5096321,essv5096341,essv5112629,essv5064459,essv5155191,essv5068761,essv5029063,essv5057219,essv5139692,essv5131265,essv5067417,essv5078312,essv5149988,essv5090824,essv5008874,essv5160195,essv5156022,essv5021644,essv5021026,essv5012566,essv5083948,essv5026271,essv5145769,essv5063429,essv5031953,essv5104047,essv5082432,essv5135400,essv5115990,essv5090053,essv5123941,essv5109917,essv5045313,essv5028028,essv5136168,essv5031595,essv5153145,essv5091188,essv5100993,essv5109571,essv5154670,essv5062464,essv5053458,essv5047197,essv5057960,essv5011805,essv5041640,essv5012518,essv5051415,essv5130166,essv5044001,essv5145893,essv5028222,essv5030532,essv5025077,essv5106349,essv5023354,essv5076456,essv5149004,essv5150546,essv5104125,essv5042075,essv5152637,essv5152431,essv5003334,essv5032535,essv5144041,essv5009307,essv5154877,essv5052185,essv5154230,essv5149781,essv5092387,essv5124600,essv5139845,essv5134474,essv5057187,essv5008576,essv5063159,essv5111356,essv5063876,essv5116218,essv5119192,essv5112976,essv5045844,essv5034496,essv5033142,essv5100343,essv5108273,essv5125401,essv5075897,essv5126279,essv5088965,essv5099748,essv5106314,essv5020337,essv5071549,essv5104544,essv5010472,essv5069484,essv5018101,essv5071254,essv5030132,essv5103712,essv5074947,essv5048107,essv5088064,essv5115597,essv5019643,essv5009887,essv5069105,essv5020237,essv5134110,essv5110338,essv5032060,essv5018700,essv5115824,essv5094320,essv5079650,essv5055316,essv5063295,essv5042194,essv5138690,essv5011322,essv5024830,essv5025203,essv5087885,essv5130613,essv5142620,essv5094844,essv5030330,essv5118684,essv5109698,essv5049517,essv5101904,essv5080864,essv5051457,essv5154096,essv5133992,essv5152545,essv5150786,essv5040421,essv5063710,essv5032966,essv5070101,essv5004325,essv5011050,essv5075935,essv5056692,essv5011919,essv5061620,essv5086404,essv5130524,essv5048052,essv5009292,essv5094060,essv5159287,essv5110429,essv5036165,essv5158636,essv5147566,essv5014399,essv5142973,essv5123524,essv5011956,essv5062454,essv5073815,essv5076202,essv5057765,essv5130155,essv5154010,essv5105772,essv5139231,essv5014548,essv5026079,essv5042521,essv5159469,essv5082094,essv5145846,essv5045364,essv5146231,essv5118897,essv5077584,essv5150139,essv5150013,essv5154416,essv5014478,essv5086671,essv5042842,essv5156293,essv5141931,essv5108460,essv5132752,essv5080534,essv5144043,essv5081137,essv5041809,essv5155421,essv5041857,essv5064626,essv5125267,essv5010494,essv5159942,essv5132991,essv5102586,essv5026668,essv5120715,essv5074438,essv5147331,essv5140354,essv5156420,essv5086376,essv5148722,essv5044606,essv5147611,essv5065938,essv5007861,essv5049562,essv5046694,essv5150721,essv5057544,essv5124463,essv5119897,essv5062252,essv5104732,essv5105302,essv5123191,essv5153382,essv5054745,essv5009640,essv5094698,essv5040556,essv5078457,essv5043444,essv5052725,essv5025822,essv5073379,essv5081942,essv5129421,essv5150297,essv5006796,essv5090483,essv5146741,essv5045717,essv5023222,essv5011666,essv5055268,essv5048479,essv5148074,essv5034317,essv5088882,essv5031587,essv5067283,essv5075729,essv5125340,essv5102876,essv5042920,essv5053120,essv5131395,essv5011009,essv5029399,essv5143603,essv5009631,essv5036574,essv5071750,essv5050296,essv5015703,essv5110527,essv5073105,essv5112735,essv5073508,essv5149203,essv5015171,essv5128915,essv5146090,essv5121710,essv5070251,essv5136202,essv5002101,essv5085890,essv5068670,essv5113403,essv5047736,essv5051448,essv5136147,essv5143116,essv5139094,essv5135123,essv5050387,essv5125784,essv5077862,essv5056575,essv5161143,essv5098279,essv5008357,essv5050576 M 1184 45 955 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA10831,NA10835,NA10836,NA10837,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12146,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12740,NA12748,NA12749,NA12750,NA12751,NA12753,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12873,NA12874,NA12875,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17993,NA17995,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18125,NA18127,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18154,NA18155,NA18156,NA18158,NA18159,NA18160,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18517,NA18518,NA18519,NA18520,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18545,NA18546,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18597,NA18599,NA18603,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18966,NA18967,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18998,NA18999,NA19001,NA19002,NA19005,NA19010,NA19027,NA19028,NA19031,NA19036,NA19038,NA19041,NA19044,NA19046,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19108,NA19109,NA19113,NA19114,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19174,NA19175,NA19176,NA19178,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19236,NA19237,NA19238,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19473,NA19474,NA19625,NA19649,NA19650,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19685,NA19700,NA19701,NA19702,NA19703,NA19704,NA19708,NA19711,NA19712,NA19713,NA19714,NA19718,NA19720,NA19722,NA19723,NA19724,NA19725,NA19726,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19775,NA19779,NA19783,NA19784,NA19788,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20346,NA20347,NA20348,NA20349,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20504,NA20505,NA20508,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20520,NA20521,NA20522,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20778,NA20783,NA20785,NA20787,NA20790,NA20792,NA20795,NA20797,NA20800,NA20802,NA20803,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20854,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20875,NA20877,NA20881,NA20882,NA20883,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20903,NA20904,NA20906,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21106,NA21107,NA21109,NA21111,NA21112,NA21113,NA21115,NA21117,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21300,NA21303,NA21308,NA21309,NA21311,NA21312,NA21313,NA21316,NA21318,NA21320,NA21336,NA21339,NA21344,NA21352,NA21355,NA21356,NA21359,NA21361,NA21364,NA21365,NA21368,NA21370,NA21371,NA21378,NA21379,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21390,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21478,NA21479,NA21480,NA21486,NA21487,NA21490,NA21491,NA21493,NA21494,NA21510,NA21513,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21526,NA21527,NA21528,NA21529,NA21574,NA21576,NA21578,NA21582,NA21583,NA21597,NA21599,NA21600,NA21601,NA21608,NA21614,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21718,NA21719,NA21722,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21784,NA21825 nsv514728 14 19272446 19490764 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628198 S 1414 1 0 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 nsv433273 14 19272965 19400957 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463154 S 9 0 1 Samples from several populations that are part of the HapMap project. OR4M1,OR4N2,OR4Q3 NA12156 dgv79e55 14 19272965 19502884 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751253,esv2751237,esv2751173,esv2751172,esv2751254,esv34969,esv34250,esv2751190,esv34626,esv34980,esv34443,esv34321,esv34398,esv34521,esv34582,esv34625,esv34638,esv34645,esv35009,esv35020,esv2751170,esv2751171,esv2751174,esv2751175,esv2751194,esv2751219,esv2751235,esv2751236,esv2751238,esv2751239,esv2751241,esv2751242 M 771 0 32 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 BEC_415,BEC_468,BEC_581,BEC_586,BEC_618,BEC_721,BEC_9,NA12155,NA12813,NA12865,NA12874,NA18515,NA18529,NA18532,NA18537,NA18552,NA18561,NA18573,NA18577,NA18611,NA18622,NA18633,NA18940,NA18944,NA18952,NA18966,NA18972,NA18974,NA18981,NA18991,NA18998,SPC_7 dgv80e55 14 19272965 19553500 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751244,esv2751193,esv2751256,esv34678,esv2751223,esv2751224,esv34394,esv35039,esv34596,esv2751191,esv2751177,esv2751176,esv2751216,esv2751185,esv2751248,esv34371,esv2751198,esv34802,esv34535,esv35085,esv34792,esv34593,esv2751250,esv34549,esv2751180,esv2751209,esv2751226,esv2751166,esv2751162,esv2751163,esv2751165,esv2751164,esv2751262,esv2751181,esv2751211,esv35105,esv2751229,esv2751203,esv2751189,esv2751225,esv2751187,esv2751257,esv34204,esv34244,esv34246,esv34259,esv34286,esv34295,esv34311,esv34363,esv34399,esv34416,esv34430,esv34454,esv34456,esv34481,esv34505,esv34524,esv34553,esv34555,esv34633,esv34655,esv34766,esv34770,esv2751252,esv34836,esv34844,esv34927,esv34976,esv35000,esv35113,esv35129,esv35131,esv35132,esv35135,esv35151,esv2751167,esv2751168,esv2751169,esv2751178,esv2751179,esv2751182,esv2751183,esv2751184,esv2751186,esv2751188,esv2751192,esv2751195,esv2751196,esv2751197,esv2751199,esv2751200,esv2751201,esv2751202,esv2751204,esv2751205,esv2751206,esv2751207,esv2751208,esv2751210,esv2751212,esv2751213,esv2751214,esv2751215,esv2751217,esv2751218,esv2751220,esv2751221,esv2751222,esv2751227,esv2751230,esv2751231,esv2751232,esv2751233,esv2751234,esv2751240,esv2751243,esv2751245,esv2751246,esv2751247,esv2751249,esv2751251,esv2751255,esv2751261,esv2751263,esv2751228,esv2751260,esv2751259,esv2751258 M 771 129 0 OR4K1,OR4K14,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 BEC_114,BEC_132,BEC_175,BEC_177,BEC_287,BEC_294,BEC_299,BEC_301,BEC_307,BEC_309,BEC_337,BEC_342,BEC_348,BEC_351,BEC_353,BEC_371,BEC_382,BEC_386,BEC_389,BEC_395,BEC_397,BEC_41,BEC_424,BEC_425,BEC_427,BEC_431,BEC_433,BEC_460,BEC_470,BEC_501,BEC_503,BEC_515,BEC_532,BEC_533,BEC_540,BEC_541,BEC_547,BEC_551,BEC_556,BEC_561,BEC_569,BEC_57,BEC_570,BEC_592,BEC_596,BEC_601,BEC_604,BEC_605,BEC_608,BEC_628,BEC_629,BEC_637,BEC_652,BEC_661,BEC_665,BEC_668,BEC_673,BEC_675,BEC_680,BEC_683,BEC_689,BEC_693,BEC_698,BEC_699,BEC_706,BEC_707,BEC_711,BEC_724,BEC_734,BEC_736,BEC_74,BEC_741,BEC_742,BEC_765,BEC_768,BEC_775,BEC_785,BEC_8,BEC_91,NA06985,NA10830,NA10839,NA11994,NA12004,NA12006,NA12717,NA12752,NA12802,NA12815,NA12864,NA18516,NA18526,NA18550,NA18564,NA18582,NA18592,NA18594,NA18605,NA18632,NA18857,NA18871,NA18943,NA18965,NA18968,NA18990,NA18995,NA18997,NA19007,NA19012,NA19130,NA19171,NA19200,NA19239,NA19240,SPC_10,SPC_102,SPC_133,SPC_140,SPC_163,SPC_165,SPC_174,SPC_193,SPC_2,SPC_23,SPC_3,SPC_34,SPC_4,SPC_85,SPC_93 dgv81e55 14 19272965 19696000 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751266,esv2751264,esv2751265,esv2751267 M 771 4 0 OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3 BEC_22,BEC_354,BEC_563,BEC_633 esv2751268 14 19272965 19786681 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987553,essv6984313,essv6984314,essv6988786 M 771 1 0 OR11G2,OR11H4,OR11H6,OR4K1,OR4K13,OR4K14,OR4K15,OR4K17,OR4K2,OR4K5,OR4L1,OR4M1,OR4N2,OR4N5,OR4Q3 BEC_688 dgv1837n71 14 19283777 19387587 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901326,nsv901358 M 6533 2 0 OR4M1,OR4N2,OR4Q3 IS35297,SP54356 dgv1838n71 14 19283777 19529742 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901372,nsv901357,nsv901382,nsv901383,nsv901371,nsv901365,nsv901349,nsv901328,nsv901335,nsv901334,nsv901333,nsv901330,nsv901332,nsv901331,nsv901363,nsv901340,nsv901339,nsv901341,nsv901342,nsv901346,nsv901347,nsv901350,nsv901348,nsv901355,nsv901351,nsv901354,nsv901353,nsv901356,nsv901364,nsv901368,nsv901361,nsv901367,nsv901381,nsv901366,nsv901375,nsv901373,nsv901374,nsv901352,nsv901376 M 6533 195 0 OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS30147,IS30171,IS30211,IS30238,IS30363,IS30389,IS30775,IS31098,IS31118,IS31198,IS31213,IS31904,IS32166,IS32666,IS32704,IS32787,IS32810,IS33403,IS33786,IS33796,IS34081,IS34439,IS34484,IS34612,IS34658,IS34698,IS34807,IS35167,IS35270,IS35299,IS35408,IS35667,IS35919,IS36077,IS36287,IS36450,IS36681,IS36825,IS36901,IS36939,IS36957,IS37226,IS37683,IS37691,IS37702,IS37837,IS37853,IS38067,IS38122,IS38207,IS38208,IS38274,IS38293,IS38397,IS38466,IS38513,IS38635,IS39326,IS39516,IS39916,IS40145,IS40169,IS40495,IS40678,IS40776,IS40785,IS41196,IS41825,IS41838,IS41895,IS41937,IS41938,MS10510,MS10802,MS10941,MS10999,MS11015,MS11020,MS11031,MS11064,MS11181,MS11252,MS11273,MS11337,MS11361,MS11494,MS11693,MS11722,MS11741,MS11821,MS12076,MS12149,MS12157,MS12555,MS12721,MS12932,MS13292,MS13359,MS13360,MS13553,MS13757,MS13957,MS14222,MS14454,MS14562,MS15359,MS15458,MS15528,MS15808,MS15916,MS16176,MS16242,MS16381,MS17091,MS17120,MS17335,MS17869,MS18176,MS18332,MS18431,MS18465,MS18784,MS18902,MS18947,MS18970,MS19023,MS20355,MS20550,MS21090,MS21242,MS21449,MS21925,MS22252,MS22421,MS22580,MS22601,MS22616,MS22798,MS22998,MS23184,MS23550,MS23871,MS23949,MS24108,MS24732,MS24968,MS24971,MS24995,MS25765,MS25805,MS25885,MS25903,MS25968,SP50125,SP50592,SP50624,SP50661,SP50774,SP50916,SP51022,SP51042,SP51235,SP52094,SP52264,SP52351,SP52440,SP52587,SP52835,SP53221,SP53401,SP53947,SP54285,SP54526,SP54722,SP55075,SP55092,SP55138,SP55321,SP55624,SP56003,SP56724,SP56757,SP56861,SP57070,SP57570,SP57634,SP57675,SP57734,SP57742,SP57803,SP58408,SP58450,SP80968,SP81109,SP81504 nsv901336 14 19285288 19340504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501724 S 6533 1 0 OR4M1,OR4Q3 SP50711 nsv901337 14 19285288 19350853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499362 S 6533 0 1 OR4M1,OR4Q3 SP50537 dgv1839n71 14 19285288 19515210 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901385,nsv901390,nsv901338,nsv901386,nsv901388,nsv901387,nsv901401,nsv901398,nsv901393,nsv901394,nsv901402,nsv901400,nsv901397,nsv901389,nsv901399,nsv901344,nsv901392,nsv901379,nsv901391,nsv901380,nsv901403,nsv901360 M 6533 115 0 OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2,OR4Q3 IS30165,IS30178,IS30378,IS31045,IS31187,IS31193,IS32429,IS32532,IS32736,IS33087,IS33519,IS33544,IS34356,IS34492,IS35440,IS36647,IS37621,IS37884,IS38030,IS38146,IS38180,IS38251,IS38303,IS38333,IS38390,IS38395,IS38416,IS38557,IS38688,IS39418,IS39521,IS39528,IS40124,IS40446,IS40737,IS40920,IS41042,IS41192,IS41456,IS41739,IS41981,MS10356,MS10470,MS10566,MS10591,MS10714,MS11307,MS11554,MS11632,MS12005,MS12539,MS12776,MS12827,MS13444,MS13641,MS14848,MS15658,MS15867,MS15973,MS16471,MS16506,MS16573,MS16746,MS16902,MS16944,MS17224,MS17785,MS17842,MS18553,MS18756,MS19276,MS19437,MS20030,MS20236,MS20367,MS20546,MS21189,MS21290,MS21460,MS21465,MS21483,MS21538,MS21863,MS22928,MS23152,MS24077,MS24447,MS24805,MS24888,SP50116,SP50925,SP51025,SP51142,SP51170,SP52187,SP52400,SP52590,SP54048,SP54189,SP54295,SP54636,SP55061,SP55110,SP55125,SP55150,SP55264,SP55460,SP55553,SP55662,SP55947,SP56874,SP56960,SP57754,SP57951,SP81273 nsv832735 14 19289488 19485285 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450723,nssv1450724,nssv1450759,nssv1450721,nssv1450722,nssv1450729,nssv1450727,nssv1450725,nssv1450726,nssv1450735,nssv1450738,nssv1450733,nssv1450730,nssv1450731,nssv1450737,nssv1450736,nssv1450734,nssv1450742,nssv1450758,nssv1450741,nssv1450743,nssv1450732,nssv1450748,nssv1450745,nssv1450746,nssv1450744,nssv1450747,nssv1450750,nssv1450757,nssv1450752,nssv1450756,nssv1450754,nssv1450753,nssv1450755,nssv1450710,nssv1450720,nssv1450760,nssv1450715,nssv1450761,nssv1450764,nssv1450763,nssv1450713,nssv1450711,nssv1450714,nssv1450712,nssv1450719,nssv1450716,nssv1450718,nssv1450749 M 95 49 0 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2 dgv1840n71 14 19294807 19458244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901369,nsv901377,nsv901359,nsv901378 M 6533 0 4 OR4K2,OR4M1,OR4N2 SP50754,SP54430,SP54516,SP54626 dgv604e1 14 19309086 19525204 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9527,essv12435,essv8412,essv12005,essv9481,essv8995,essv6050,essv18502,essv11371,essv15976,essv6545,essv14204,essv13962 M 271 0 0 OR4K1,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2 NA12763,NA18603,NA18624,NA18913,NA19093,NA19127,NA19141,NA19142,NA19152,NA19154,NA19160,NA19194,NA19223 dgv82e55 14 19309319 19492423 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35086,esv34495,esv34559,esv34995,esv34530,esv35114,esv2751269 M 771 7 0 OR4K1,OR4K2,OR4K5,OR4M1,OR4N2 BEC_810,NA12154,NA12760,NA12872,NA18856,NA19000,NA19173 esv34243 14 19309319 19580947 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979444,essv6979443 M 771 0 1 OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4M1,OR4N2 NA18558 nsv901384 14 19317620 19419332 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506235,nssv1517857,nssv1517659 M 6533 1 2 OR4K2,OR4M1,OR4N2 SP54083,SP57341,SP57379 nsv471369 14 19318322 19319262 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548091,nssv548092,nssv548093 M 3 OR4M1 dgv1841n71 14 19335041 19473931 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901417,nsv901415,nsv901418,nsv901395 M 6533 0 4 OR4K1,OR4K2,OR4K5,OR4N2 SP50148,SP51167,SP54666,SP56116 dgv1842n71 14 19335041 19502504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901409,nsv901411,nsv901413,nsv901396,nsv901410,nsv901406,nsv901408,nsv901405,nsv901412,nsv901407 M 6533 26 0 OR4K1,OR4K2,OR4K5,OR4N2 IS33507,IS33632,IS34543,IS35354,IS38216,IS40867,IS41308,MS14493,MS14947,MS15511,MS16048,MS18011,MS18821,SP50063,SP50073,SP50117,SP50521,SP51221,SP52172,SP54402,SP55032,SP56119,SP56294,SP56457,SP57418,SP57921 nsv901404 14 19336854 19529742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505060 S 6533 0 1 OR4K1,OR4K15,OR4K2,OR4K5,OR4N2 SP53041 dgv605e1 14 19337785 19502828 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv194,essv18462,essv21746,essv6523 M 271 0 0 OR4K1,OR4K2,OR4K5,OR4N2 NA10861,NA11832,NA18572,NA18994 essv15197 14 19337785 19580947 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR4K1,OR4K13,OR4K14,OR4K15,OR4K2,OR4K5,OR4N2 NA18504 dgv1843n71 14 19365189 19515210 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901426,nsv901441,nsv901437,nsv901425,nsv901439,nsv901432,nsv901423,nsv901430,nsv901435,nsv901414,nsv901429,nsv901434,nsv901422,nsv901442,nsv901438,nsv901436,nsv901421,nsv901419,nsv901427,nsv901428,nsv901420,nsv901431 M 6533 37 0 OR4K1,OR4K15,OR4K2,OR4K5,OR4N2 IS35968,MS15094,MS18529,SP50058,SP50159,SP50927,SP50943,SP51014,SP51030,SP51158,SP51206,SP52122,SP52455,SP53827,SP54384,SP54468,SP54509,SP54579,SP54603,SP54627,SP54782,SP55223,SP55310,SP55382,SP55567,SP55650,SP55911,SP55946,SP55971,SP56793,SP57243,SP57273,SP57368,SP57430,SP57640,SP58462,SP80924 dgv1844n71 14 19365350 19473931 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901433,nsv901424,nsv901416 M 6533 4 0 OR4K1,OR4K2,OR4K5,OR4N2 SP52588,SP54429,SP57445,SP57481 nsv517699 14 19375271 19502504 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662758,nssv687044,nssv689969,nssv676606,nssv691536,nssv667107,nssv654901,nssv687258,nssv652892,nssv680187,nssv676636,nssv686133,nssv670265,nssv684435,nssv666942,nssv657160,nssv658535,nssv681889,nssv662317,nssv667313,nssv672701,nssv659328,nssv673266,nssv686260,nssv661439,nssv671911,nssv692310,nssv673003,nssv660668,nssv681138,nssv685241,nssv667637,nssv683990,nssv675812 M 2026 29 5 OR4K1,OR4K2,OR4K5 nsv520814 14 19375271 19536664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697626 S 2026 0 1 OR4K1,OR4K15,OR4K2,OR4K5 dgv1845n71 14 19387587 19524164 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901440,nsv901443 M 6533 0 2 OR4K1,OR4K15,OR4K2,OR4K5 IS41068,SP54381 esv2573942 14 19407208 19409490 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224942 S 1 1 0 "" NA18507 nsv1201 14 19413225 19426275 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9170 S 9 0 1 OR4K2 NA12156 nsv442998 14 19414267 19415211 CNV Gain Young et al 2008 18674749 MLPA,PCR,Sequence_alignment Not Provided nssv649526 M 52 OR4K2 nsv471370 14 19414267 19415211 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548095,nssv548094 M 3 OR4K2 esv2603885 14 19418246 19468505 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199691 S 1 1 0 OR4K5 NA18507 dgv1846n71 14 19419332 19470840 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901444,nsv901445 M 6533 2 0 OR4K5 SP50082,SP50528 nsv901446 14 19427219 19473931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512879 S 6533 0 1 OR4K1,OR4K5 SP55649 dgv1847n71 14 19427219 19494891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901448,nsv901447,nsv901452,nsv901450,nsv901449,nsv901451 M 6533 7 0 OR4K1,OR4K5 SP50520,SP50832,SP55021,SP55355,SP56828,SP56849,SP57925 nsv832737 14 19432768 19595839 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450775,nssv1450774,nssv1450776,nssv1450772,nssv1450765,nssv1450771,nssv1450768,nssv1450766,nssv1450767,nssv1450770,nssv1450769 M 95 11 0 OR4K1,OR4K13,OR4K14,OR4K15,OR4K5 nsv469855 14 19440980 19574860 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649876 M 265 0 19 Samples from several populations that are part of the HapMap project. OR4K1,OR4K13,OR4K14,OR4K15,OR4K5 dgv1848n71 14 19443793 19494891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901453,nsv901454,nsv901455 M 6533 4 0 OR4K1,OR4K5 SP50176,SP51238,SP51486,SP52027 dgv606e1 14 19444633 19488997 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12905,essv14035,essv8559 M 271 0 0 OR4K1,OR4K5 NA18503,NA18522,NA18862 dgv1849n71 14 19453422 19494891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901459,nsv901456,nsv901458,nsv901457 M 6533 6 0 OR4K1,OR4K5 SP54356,SP54635,SP55692,SP57193,SP58556,SP80928 nsv471372 14 19458606 19459575 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548096,nssv548097 M 3 OR4K5 dgv1850n71 14 19459714 19496582 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901462,nsv901463,nsv901460 M 6533 4 0 OR4K1 SP50631,SP52109,SP53448,SP54083 nsv901461 14 19463414 19493705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500511 S 6533 0 1 OR4K1 SP50129 esv2599144 14 19470562 19473132 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323389 S 1 1 0 "" NA18507 nsv901464 14 19494891 19529742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563505 S 6533 1 0 OR4K15 MS26061 essv4 14 19502641 19543920 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR4K15 NA18945 nsv525754 14 19552311 19571152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701922 S 2026 0 1 OR4K14 esv273547 14 19554119 19554435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581864,essv2582461,essv2582889,essv2583959 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv270175 14 19554119 19554460 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565736,essv2541056,essv2546518,essv2521139,essv2525835,essv2542353,essv2536692,essv2522670,essv2543923,essv2556538,essv2568206,essv2523346,essv2531770,essv2577213,essv2570608,essv2548186,essv2521853,essv2576828,essv2550730,essv2550438,essv2535434,essv2554143,essv2544409,essv2552318,essv2520688,essv2547238,essv2558648,essv2564557,essv2577888,essv2553719,essv2559645,essv2565335,essv2576325,essv2564183,essv2555147,essv2530786,essv2562094,essv2537206,essv2528480,essv2546715,essv2520884,essv2556871,essv2569374,essv2578527,essv2550229,essv2539141,essv2527239,essv2561586,essv2544567,essv2562958,essv2523666,essv2552921,essv2541375,essv2543006,essv2540238,essv2524604,essv2564882,essv2534568,essv2539679,essv2549307,essv2519808,essv2560069,essv2522311,essv2566085,essv2531087,essv2532826,essv2567844,essv2528873,essv2541482,essv2570065,essv2563802,essv2553285,essv2535797,essv2572197,essv2559303,essv2566897,essv2541903,essv2568986,essv2543621,essv2527828,essv2562229,essv2533954,essv2578451,essv2555325,essv2533526,essv2555688,essv2567223,essv2566537,essv2530033,essv2573946,essv2527700,essv2557598,essv2555929,essv2534256,essv2531284,essv2573439,essv2543147,essv2576970,essv2571937,essv2525649,essv2526950,essv2575751,essv2574999,essv2560583,essv2560941,essv2574876,essv2572625,essv2545172,essv2560278,essv2571087,essv2551430,essv2537835,essv2549086,essv2533382,essv2548011,essv2524912,essv2563431,essv2557771 M 157 118 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18501,NA18508,NA18510,NA18511,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19099,NA19102,NA19116,NA19137,NA19138,NA19143,NA19172,NA19190,NA19238,NA19257 esv1506762 14 19554152 19554152 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766970 S 2 1 0 "" HuRef nsv832738 14 19568462 19714291 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450777 S 95 0 1 OR4K13,OR4K17,OR4L1,OR4N5 nsv9118 14 19588055 19611568 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21230 S 31 1 0 Samples from several populations that are part of the HapMap project. OR4L1 NA18853 essv8070 14 19590226 19608948 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. OR4L1 NA19161 esv259730 14 19590488 19610656 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395596,essv2395731 M 144 0 0 Samples from several populations that are part of the HapMap project. OR4L1 NA18501,NA18853 esv2421843 14 19590795 19609202 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5032502,essv5046203,essv5018551,essv5012035,essv5029611,essv5084476,essv5044855,essv5132637,essv5010818,essv5122722,essv5129022,essv5139926,essv5146016,essv5035125,essv5010305,essv5013916,essv5089608,essv5111572,essv5151225,essv5094227 M 1184 20 0 OR4L1 NA18500,NA18501,NA18515,NA18516,NA18853,NA18854,NA18868,NA18869,NA18910,NA18911,NA19159,NA19161,NA19178,NA19198,NA19199,NA19456,NA19701,NA21363,NA21415,NA21689 nsv818997 14 19590900 19609145 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416493,nssv1417932,nssv1416495,nssv1417931 M 112 4 0 OR4L1 NA18515,NA18516,NA18853,NA18854 dgv122n21 14 19590900 19664229 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520054,nsv524732 M 2026 13 0 OR4K17,OR4L1 nsv514729 14 19591268 19609212 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627134 S 1414 0 0 OR4L1 nsv442326 14 19591275 19609202 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR4L1 nsv1202 14 19592700 19656887 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6582,nssv1176,nssv2060 M 9 0 3 OR4K17,OR4L1 NA12156,NA18555,NA19240 esv22236 14 19594433 19598301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14848 S 451 0 1 OR4L1 NA18907 nsv818998 14 19598047 19609145 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416793,nssv1416792 M 112 2 0 OR4L1 NA19159,NA19161 nsv826866 14 19598195 19599016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431609,nssv1425301 M 31 0 2 OR4L1 AK18,AK2 nsv901465 14 19609145 19692827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540811 S 6533 1 0 OR4K17,OR4N5 MS15036 nsv9119 14 19612261 19625950 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23631,nssv21915,nssv22177,nssv21929,nssv26667,nssv21003,nssv20826,nssv25073,nssv21348,nssv21969,nssv24658,nssv21260,nssv24644,nssv21026,nssv24760,nssv21857,nssv22178,nssv21454,nssv22707 M 31 19 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA19007,NA19132,NA19144,NA19173,NA19221 nsv510628 14 19614671 19626567 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618912 S 4 0 1 "" NA10860 nsv511029 14 19614671 19636574 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621626 S 4 0 0 "" NA15510 nsv820235 14 19618291 19626483 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419860 S 2 1 0 "" AK1 nsv511541 14 19618933 19622646 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626164 S 1 0 1 "" 1 nsv512348 14 19619927 19626580 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624931 S 1 0 1 "" 1 esv2564403 14 19620206 19626597 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372733 S 1 0 1 "" NA18507 dgv19n47 14 19620546 19625502 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498820,nsv498821 M 9 0 2 "" esv992275 14 19620644 19625444 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565350 S 3 0 1 "" HuRef esv1093951 14 19620757 19625436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738480 S 2 0 1 "" HuRef nsv820998 14 19621327 19625018 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421083 S 1 0 1 "" NA10851 nsv826867 14 19621327 19625073 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434690,nssv1436157,nssv1428624,nssv1431610,nssv1437737,nssv1422922,nssv1422114,nssv1429378,nssv1429853,nssv1438427,nssv1426100,nssv1435391,nssv1430128,nssv1433166 M 31 0 14 "" AK10,AK12,AK14,AK18,AK4,NA18547,NA18552,NA18566,NA18570,NA18942,NA18947,NA18949,NA18951,NA18972 esv22395 14 19621390 19625018 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18460,esv11244 M 451 21 0 "" NA06985,NA07037,NA07045,NA11894,NA12004,NA12156,NA12414,NA12489,NA12749,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190 nsv511529 14 19623520 19631920 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626151 S 1 0 1 "" 1 dgv362n67 14 19623793 19625073 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826869,nsv826868,nsv826871 M 31 0 15 "" AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18564,NA18582,NA18592,NA18968,NA18969,NA18973,NA18997,NA18999 nsv826870 14 19624033 19624859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430894 S 31 0 1 "" AK16 nsv514730 14 19624072 19624932 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628199 S 1414 0 1 "" esv5494 14 19652174 19652260 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27935 S 1 1 0 "" SJK nsv521393 14 19673739 19692827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698003 S 2026 0 1 OR4N5 nsv832739 14 19673966 19804062 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450778 S 95 1 0 OR11G2,OR11H4,OR11H6,OR4N5 nsv85568 14 19688562 19691748 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104146 M 24 "" nsv901466 14 19726485 19776940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541378 S 6533 0 1 OR11G2,OR11H6 MS15291 esv2571724 14 19749638 19751669 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219017 S 1 0 1 "" NA18507 nsv456144 14 19754117 19778958 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533534 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR11H6 HGDP00359 nsv901467 14 19757818 19789200 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559722 S 6533 1 0 OR11H4,OR11H6 MS24101 nsv9120 14 19762808 19767195 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19445 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 esv2554946 14 19863507 19864499 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357974 S 1 1 0 CCNB1IP1,SNORD126 NA18507 esv268213 14 19863752 19863837 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514105 S 157 1 0 Samples from several populations that are part of the HapMap project. CCNB1IP1 NA12043 esv1436404 14 19870016 19870016 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283539 S 2 1 0 CCNB1IP1 HuRef esv23438 14 19870605 20327718 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17435,esv21015 M 451 1 1 ANG,APEX1,CCNB1IP1,EDDM3A,EDDM3B,KLHL33,OR6S1,OSGEP,PARP2,PNP,RNASE10,RNASE11,RNASE12,RNASE4,RNASE6,RNASE9,RPPH1,TEP1,TMEM55B NA12044,NA18508 esv274228 14 20020249 20020576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580759 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270804 14 20020267 20020607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510257,essv2510109,essv2502577,essv2493422,essv2500292,essv2511734,essv2509757,essv2496389,essv2498305,essv2507532,essv2509245,essv2507432,essv2503563,essv2505574,essv2504772,essv2507021,essv2509501,essv2512098,essv2503663,essv2513121 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10847,NA10851,NA11829,NA12750,NA12763,NA12891,NA18499,NA18508,NA18510,NA18526,NA18638,NA18909,NA18912,NA18947,NA19005,NA19099,NA19102,NA19129,NA19238 nsv442327 14 20034116 20041622 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv528120 14 20037484 20041624 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704663 S 2026 1 0 "" esv1322064 14 20044409 20044909 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264049 S 2 0 1 "" HuRef nsv901468 14 20067061 20219625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545869 S 6533 1 0 OR6S1,RNASE11,RNASE12,RNASE9 MS17014 nsv901469 14 20113123 20140104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578566 S 6533 0 1 RNASE11,RNASE12 IS34805 esv2458326 14 20181251 20182781 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288223 S 1 0 1 "" NA18507 nsv1203 14 20190708 20235917 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9171 S 9 0 1 ANG,RNASE4 NA12156 esv1007053 14 20244944 20248064 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565774 S 3 1 0 "" HuRef nsv521333 14 20272055 20272999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697940 S 2026 0 1 "" nsv901470 14 20272999 20314536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551121,nssv1545870 M 6533 2 0 EDDM3A,EDDM3B MS17014,MS18787 dgv607e1 14 20285948 20541454 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8197,essv17046,essv6711,esv559,essv10060,essv249,essv2004,essv16477,essv17030 M 271 0 0 ECRP,EDDM3A,EDDM3B,METTL17,RNASE1,RNASE2,RNASE3,RNASE6,SLC39A2 NA18608,NA18948,NA18949,NA19099,NA19116,NA19139,NA19144,NA19172 nsv428293 14 20285948 20601623 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452470,nssv452472,nssv452471,nssv452468,nssv452473,nssv452469,nssv452475 M 62 1 6 ECRP,EDDM3A,EDDM3B,METTL17,NDRG2,RNASE1,RNASE13,RNASE2,RNASE3,RNASE6,RNASE7,RNASE8,SLC39A2,TPPP2 HGDP00460,HGDP00462,HGDP00472,HGDP00476,HGDP01087,HGDP01093,NA19108 dgv608e1 14 20383476 20541454 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10526,essv12986,essv15573,essv4240,essv4968,essv8621 M 271 0 0 ECRP,METTL17,RNASE2,RNASE3,SLC39A2 NA18603,NA18637,NA18859,NA19137,NA19239,NA19240 esv271541 14 20392806 20393084 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511799,essv2498726,essv2513083 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18499,NA19138 nsv832740 14 20401900 20614892 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450779 S 95 1 0 ARHGEF40,ECRP,METTL17,NDRG2,RNASE13,RNASE2,RNASE3,RNASE7,RNASE8,SLC39A2,TPPP2 nsv470622 14 20408664 20538991 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547544 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ECRP,METTL17,RNASE2,RNASE3,SLC39A2 HGDP01281 nsv9121 14 20411743 20496489 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25098,nssv22736,nssv22795,nssv26680,nssv25123,nssv23924 M 31 2 2 Samples from several populations that are part of the HapMap project. ECRP,RNASE2,RNASE3 NA18860,NA19144,NA19221,NA19240 nsv817619 14 20413004 20483442 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417392 S 112 1 0 ECRP,RNASE3 NA18949 dgv1851n71 14 20413004 20489494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901473,nsv901471 M 6533 0 2 ECRP,RNASE3 SP54177,SP57329 nsv517174 14 20413004 20490928 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671118,nssv693491,nssv683303,nssv683885,nssv686336,nssv666990,nssv684436,nssv670507,nssv655686,nssv673474,nssv689395,nssv677147,nssv678003,nssv671044,nssv659068,nssv652835,nssv684992,nssv659608,nssv678844,nssv652578,nssv662924,nssv685726,nssv663573,nssv657492,nssv673531,nssv691901,nssv675161,nssv667744,nssv680480,nssv668939,nssv694148,nssv687516,nssv675256,nssv664453,nssv666046,nssv671928,nssv684018,nssv677570,nssv667914,nssv692373,nssv687610,nssv681155,nssv675630,nssv664308,nssv670469,nssv676735,nssv692254,nssv653187,nssv700970,nssv669237,nssv660888,nssv671770,nssv677670,nssv667562,nssv654668,nssv688652,nssv651935,nssv679640,nssv692486,nssv679725,nssv692116,nssv653675,nssv684162,nssv670117,nssv652457,nssv686528,nssv666780,nssv658765,nssv654470,nssv658223,nssv693930,nssv686489,nssv661014,nssv676032,nssv658817,nssv661899,nssv680909,nssv670607,nssv665990,nssv667361,nssv664849,nssv666074,nssv656509,nssv659416,nssv693897,nssv690911,nssv700377,nssv683945,nssv658320,nssv702506,nssv682876,nssv684904,nssv669743,nssv693686,nssv691417,nssv688614,nssv658491,nssv654950,nssv660587,nssv689572,nssv677724,nssv676416,nssv693403 M 2026 3 100 ECRP,RNASE3 nsv1204 14 20413244 20487448 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1177 S 9 0 1 ECRP,RNASE3 NA19240 nsv826872 14 20413339 20418499 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437739 S 31 1 0 "" NA18949 dgv363n67 14 20413339 20493178 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826876,nsv826874,nsv826873 M 31 3 0 ECRP,RNASE3 AK12,AK4,NA18949 nsv1205 14 20414552 20447050 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6583 S 9 1 0 RNASE3 NA12156 nsv901472 14 20418096 20483442 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517294,nssv1502104,nssv1499389,nssv1514911,nssv1503279,nssv1507015,nssv1512153,nssv1518807,nssv1503021,nssv1513626,nssv1502726 M 6533 9 2 ECRP,RNASE3 SP50017,SP50872,SP51353,SP51477,SP52020,SP54455,SP55312,SP55807,SP56094,SP57243,SP58206 nsv442680 14 20419446 20479821 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ECRP,RNASE3 esv2421825 14 20419448 20490928 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5035215,essv5136390,essv5158861,essv5093055,essv5031631,essv5029953,essv5113542,essv5010839,essv5092927,essv5063621,essv5051689,essv5121946,essv5138097,essv5094436,essv5018457,essv5072475,essv5072952,essv5071335,essv5025932,essv5040321,essv5038870,essv5062109,essv5059675,essv5122894,essv5021803,essv5114138,essv5048829,essv5087508,essv5081929,essv5013379,essv5151974,essv5086436,essv5160763,essv5117233,essv5059080,essv5070415,essv5057092,essv5075403,essv5093385,essv5014343,essv5033467,essv5012664,essv5155742,essv5130384,essv5104852,essv5017636,essv5088576,essv5107719,essv5117424,essv5138709,essv5129719,essv5067022,essv5085929,essv5054880,essv5113269,essv5066966,essv5048517,essv5068802,essv5099182,essv5084370,essv5042128,essv5010302,essv5101709,essv5003340,essv5128801,essv5014944,essv5127983,essv5142125,essv5103612,essv5114936,essv5157744,essv5033825,essv5046884,essv5136193,essv5013300,essv5109400,essv5106086,essv5027726,essv5118273,essv5044559,essv5009061,essv5010131 M 1184 16 66 ECRP,RNASE3 NA06986,NA12344,NA12347,NA18105,NA18114,NA18484,NA18486,NA18489,NA18510,NA18603,NA18608,NA18637,NA18859,NA18860,NA18874,NA18917,NA18933,NA18934,NA18935,NA18948,NA18979,NA19036,NA19067,NA19078,NA19099,NA19108,NA19109,NA19116,NA19122,NA19137,NA19139,NA19144,NA19172,NA19239,NA19240,NA19247,NA19249,NA19318,NA19359,NA19373,NA19374,NA19429,NA19431,NA19436,NA19440,NA19455,NA19456,NA19466,NA19468,NA19473,NA19708,NA19711,NA19747,NA19748,NA19782,NA19835,NA19836,NA19917,NA19918,NA20127,NA20279,NA20301,NA20302,NA20319,NA20335,NA20756,NA21308,NA21356,NA21379,NA21382,NA21384,NA21386,NA21388,NA21390,NA21417,NA21440,NA21442,NA21476,NA21596,NA21615,NA21631,NA21719 esv29488 14 20419500 20493353 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20871 S 451 0 4 ECRP,RNASE3 NA18907,NA19099,NA19108,NA19240 nsv498822 14 20419515 20483675 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585683 S 9 0 1 ECRP,RNASE3 dgv609e1 14 20422939 20443497 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6933,essv7892 M 271 0 0 RNASE3 NA18608,NA19239 essv941 14 20422939 20503182 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ECRP,RNASE2,RNASE3 NA18949 nsv436831 14 20425998 20485015 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466754 S 2 1 0 Samples from several populations that are part of the HapMap project. ECRP,RNASE3 NA18505 nsv433274 14 20427995 20475725 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463155 S 9 0 1 Samples from several populations that are part of the HapMap project. ECRP,RNASE3 NA19240 nsv901474 14 20430073 20483442 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499086 S 6533 1 0 ECRP,RNASE3 SP50585 nsv817620 14 20431224 20469417 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416970,nssv1416971,nssv1418206,nssv1416675 M 112 0 4 ECRP NA19116,NA19137,NA19139,NA19144 nsv456146 14 20431224 20502295 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533535 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ECRP,RNASE2 HGDP00472 nsv514731 14 20432612 20481668 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628200 S 1414 0 0 ECRP nsv826877 14 20447521 20448647 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428625,nssv1434691,nssv1440634,nssv1430895 M 31 0 4 "" AK10,AK16,NA18564,NA18570 nsv1206 14 20459417 20507579 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4097,nssv9173 M 9 2 0 RNASE2 NA12156,NA12878 nsv826878 14 20472270 20472755 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429380 S 31 1 0 "" AK12 nsv826879 14 20487679 20491094 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437742 S 31 1 0 "" NA18949 nsv826880 14 20487951 20496640 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429381 S 31 1 0 RNASE2 AK12 nsv527381 14 20492506 20494558 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703814 S 2026 1 0 RNASE2 nsv514732 14 20493896 20494552 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627135 S 1414 0 0 RNASE2 nsv826881 14 20493896 20496640 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437743 S 31 1 0 RNASE2 NA18949 nsv901475 14 20496122 20535329 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575388 S 6533 1 0 METTL17 IS33726 nsv826882 14 20580861 20674041 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439258 S 31 1 0 ARHGEF40,C14orf176,RNASE7,RNASE8,ZNF219 NA18973 esv4248 14 20605920 20606465 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26689 S 1 0 1 Single Asian sample YH "" YH esv1010817 14 20605978 20606303 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568580 S 3 0 1 "" HuRef esv1716472 14 20605984 20606310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328029 S 2 0 1 "" HuRef nsv84528 14 20605985 20606310 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103106 M 24 "" esv9575 14 20605986 20606296 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32016 S 1 0 1 "" SJK dgv123n21 14 20610703 20644530 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525724,nsv528337 M 2026 0 2 ARHGEF40,C14orf176,ZNF219 nsv524093 14 20644530 20722737 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699966 S 2026 1 0 OR5AU1 nsv901476 14 20660568 20717260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529953,nssv1535167 M 6533 0 2 OR5AU1 MS10127,MS12050 dgv1852n71 14 20695102 20820148 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901477,nsv901478 M 6533 2 0 HNRNPC,LOC283624 IS31879,IS40839 nsv520641 14 20701168 20702271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697533 S 2026 0 1 "" esv1950322 14 20720930 20721566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914580 S 1 0 1 "" NA18507 esv1180837 14 20721530 20721530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968702 S 2 1 0 "" HuRef nsv509527 14 20796525 20840137 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620998,nssv623659 M 4 2 0 HNRNPC,RPGRIP1 NA15510,NA18994 esv1560508 14 20798177 20798177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090607 S 2 1 0 HNRNPC HuRef esv995336 14 20814868 20816213 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563756 S 3 1 0 "" HuRef esv2647291 14 20847483 20848925 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287754 S 1 0 1 RPGRIP1 NA18507 esv1010334 14 20965358 20965451 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580552 S 3 0 1 CHD8 HuRef esv1687094 14 20965413 20965507 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596605 S 2 0 1 CHD8 HuRef esv2617264 14 20983147 20984692 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356444 S 1 0 1 "" NA18507 esv2422459 14 21001464 21239342 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161519 S 181 1 0 METTL3,OR10G2,OR10G3,OR4E2,RAB2B,SALL2,TOX4 ND03401 esv994931 14 21016984 21026207 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564987 S 3 0 1 TOX4 HuRef esv2506236 14 21022034 21025244 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254407 S 1 0 1 TOX4 NA18507 esv2080110 14 21022279 21024576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810650 S 1 0 1 TOX4 NA18507 esv8853 14 21022310 21024526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31294 S 1 0 1 TOX4 SJK nsv85879 14 21035530 21044038 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104457 M 24 METTL3,TOX4 nsv522850 14 21059681 21067948 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698503 S 2026 1 0 SALL2 esv28053 14 21096353 21105839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20972 S 451 0 4 "" NA18523,NA18858,NA18861,NA18907 nsv826883 14 21099868 21101407 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427031 S 31 0 1 "" AK6 nsv515769 14 21103775 21104464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657273,nssv663574,nssv667144,nssv664727 M 2026 0 4 "" nsv525849 14 21118254 21124872 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702043 S 2026 1 0 "" nsv433423 14 21119138 21124976 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463304 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv259639 14 21119692 21128863 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393690,essv2393985,essv2394379 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv22897 14 21119847 21128666 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9942 S 451 1 0 "" NA19240 esv2421935 14 21119983 21125597 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084749,essv5023931,essv5079052,essv5104057,essv5060842,essv5157409,essv5046660,essv5115868,essv5072634,essv5049160,essv5034909,essv5009732,essv5040220,essv5118343,essv5132511,essv5043231,essv5008231,essv5054345,essv5061711,essv5115286,essv5118898,essv5141208 M 1184 22 0 "" NA18510,NA18853,NA18854,NA18913,NA18914,NA19144,NA19159,NA19161,NA19171,NA19173,NA19193,NA19194,NA19238,NA19239,NA19240,NA19247,NA19249,NA19256,NA19379,NA19429,NA20348,NA21479 nsv442681 14 21119983 21125597 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817621 14 21121359 21123703 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416866,nssv1416865,nssv1416867 M 112 3 0 "" NA19238,NA19239,NA19240 nsv516092 14 21121359 21124872 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669682,nssv671145,nssv689747,nssv690036,nssv685039,nssv674248,nssv660331,nssv685090,nssv678926,nssv693240,nssv666150,nssv658321,nssv668267 M 2026 13 0 "" nsv817622 14 21121359 21124872 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418207,nssv1418208 M 112 2 0 "" NA19144,NA19145 nsv526137 14 21121359 21139619 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702392 S 2026 1 0 "" nsv514733 14 21123300 21125572 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628201 S 1414 1 0 "" nsv1207 14 21125821 21128950 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1178 S 9 1 0 "" NA19240 nsv456147 14 21143313 21374911 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533536 S 1557 1 0 OR10G2,OR4E2 NINDS_244 nsv901479 14 21172640 21216672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522954 S 6533 1 0 OR10G2,OR4E2 SP53516 nsv510629 14 21204265 21285682 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620070 S 4 0 1 "" NA15510 esv1007055 14 21206390 21206390 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583618 S 3 1 0 "" HuRef esv1489727 14 21206391 21206391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735505 S 2 1 0 "" HuRef nsv85718 14 21206392 21206392 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104296 M 24 "" esv2219685 14 21262533 21262956 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678878 S 1 0 1 "" NA18507 nsv507735 14 21272603 21278603 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617875 S 4 1 0 "" CHM nsv528996 14 21290409 21312133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705700 S 2026 0 1 "" nsv901480 14 21291051 21324930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568999,nssv1583670,nssv1577271 M 6533 3 0 "" IS31385,IS34405,IS36570 nsv832741 14 21305621 21483477 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450780 S 95 1 0 "" nsv456148 14 21312133 21362645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533537 S 1557 0 1 "" NINDS_160 nsv901481 14 21331879 21403779 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593319 S 6533 1 0 "" IS39400 nsv524527 14 21358681 21457158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700476 S 2026 0 1 "" nsv525130 14 21359199 21362645 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701198 S 2026 1 0 "" nsv84428 14 21364507 21368152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103006 M 24 "" nsv832742 14 21377600 21571588 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450781,nssv1450788,nssv1450783,nssv1450786,nssv1450785,nssv1450787,nssv1450782 M 95 7 0 "" nsv1208 14 21384281 21419601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4098 S 9 1 0 "" NA12878 esv9521 14 21393270 21446096 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31962 S 1 0 1 "" SJK esv268001 14 21396045 21396234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500643,essv2494493,essv2501565,essv2512372,essv2512819 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18571,NA18572,NA18608,NA18949,NA18980 nsv520214 14 21398771 21400270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688002,nssv661926 M 2026 0 2 "" dgv364n67 14 21399585 22075151 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826890,nsv826888,nsv826889,nsv826887,nsv826884,nsv826885 M 31 0 6 "" AK10,AK12,AK14,AK16,AK18,AK6 dgv124n21 14 21406603 21426065 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522337,nsv520616 M 2026 0 2 "" nsv901482 14 21426391 21462823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575490,nssv1592895 M 6533 0 2 "" IS33759,IS39310 dgv610e1 14 21462543 21466983 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12893,esv1234 M 271 0 0 "" NA18522 esv28438 14 21462556 21463348 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12123 S 451 0 2 "" NA12776,NA18502 nsv520915 14 21480460 21490309 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677639,nssv689080 M 2026 2 0 "" esv22444 14 21489665 21490899 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17027 S 451 4 0 "" NA06985,NA11894,NA18523,NA19129 nsv826891 14 21489818 21490467 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426103,nssv1434692 M 31 2 0 "" AK4,NA18570 nsv528406 14 21498824 21504263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704998 S 2026 0 1 "" nsv516346 14 21523755 21528535 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667721,nssv663210,nssv683668,nssv688521 M 2026 0 4 "" nsv523482 14 21523755 21531435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699248 S 2026 0 1 "" nsv527415 14 21528535 21531435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703853 S 2026 0 1 "" nsv820054 14 21554610 21683844 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418781 S 2 0 1 "" AK1 nsv507736 14 21565899 21571899 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619123,nssv617876,nssv623160 M 4 3 0 "" CHM,NA10860,NA18994 nsv456149 14 21568242 21604830 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533538 S 1557 0 1 "" NINDS_119 nsv901483 14 21569000 21605911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560624 S 6533 0 1 "" MS24600 dgv365n67 14 21579798 22056312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826894,nsv826892,nsv826893 M 31 0 3 "" AK2,AK4,AK8 nsv821693 14 21581346 22040241 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421331 S 31 0 1 "" nsv832743 14 21628027 21807284 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450807,nssv1450800,nssv1450803,nssv1450798,nssv1450799,nssv1450802,nssv1450789,nssv1450805,nssv1450801,nssv1450790,nssv1450793,nssv1450808,nssv1450797,nssv1450792,nssv1450791,nssv1450796,nssv1450794,nssv1450804 M 95 18 0 "" esv271488 14 21628795 21629149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509832,essv2508991,essv2499191 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18522,NA19114 esv29943 14 21635428 22012322 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84182 S 3 0 1 "" WATSON esv25760 14 21652523 21653593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16925 S 451 0 1 "" NA18508 nsv528420 14 21656232 21657593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705012 S 2026 0 1 "" nsv517292 14 21657593 21662834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689211,nssv670282,nssv668307,nssv654224 M 2026 0 4 "" nsv901484 14 21665117 21691822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552070 S 6533 0 1 "" MS19159 nsv819578 14 21686623 21961329 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418799 S 2 0 1 "" AK1 nsv84297 14 21699639 21699639 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102875 M 24 "" nsv832744 14 21763281 21977510 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450838,nssv1450846,nssv1450824,nssv1450841,nssv1450833,nssv1450831,nssv1450843,nssv1450842,nssv1450820,nssv1450819,nssv1450818,nssv1450821,nssv1450840,nssv1450844,nssv1450845,nssv1450823,nssv1450822,nssv1450832,nssv1450834,nssv1450848,nssv1450816,nssv1450847,nssv1450837,nssv1450830,nssv1450809,nssv1450835,nssv1450811,nssv1450826,nssv1450810,nssv1450815,nssv1450813,nssv1450849,nssv1450829,nssv1450825,nssv1450812,nssv1450836,nssv1450814,nssv1450852,nssv1450827 M 95 39 0 "" nsv9122 14 21790551 21803445 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26692 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv125n21 14 21806501 22011989 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527934,nsv522021 M 2026 0 2 "" dgv1853n71 14 21811574 21856055 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901485,nsv901486,nsv901487 M 6533 6 0 "" IS33970,MS11919,MS13693,MS15709,MS18935,MS25890 nsv456151 14 21816895 21838610 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533539 S 1557 0 1 "" NINDS_272 nsv523638 14 21819582 21923525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699438 S 2026 0 1 "" nsv519395 14 21822713 21826110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696831 S 2026 0 1 "" nsv520510 14 21834952 21862055 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694194,nssv671964,nssv679218 M 2026 3 0 "" esv2549804 14 21844110 21845671 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347853 S 1 0 1 "" NA18507 esv2303187 14 21844476 21845385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511650 S 1 0 1 "" NA18507 nsv821133 14 21844525 21845396 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421084 S 1 0 1 "" NA10851 nsv511539 14 21844535 21845319 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626162 S 1 0 1 "" 1 nsv826895 14 21844589 21845396 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429463,nssv1429866,nssv1433966 M 31 3 0 "" NA18526,NA18947,NA18968 esv3489 14 21844643 21845269 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25930 S 1 0 1 Single Asian sample YH "" YH nsv84391 14 21844676 21845208 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102969 M 24 "" esv22773 14 21844683 21845214 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14150 S 451 6 5 "" NA11931,NA11993,NA12006,NA12239,NA12414,NA12828,NA15510,NA18517,NA18909,NA19108,NA19225 nsv520383 14 21864135 21867816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680506,nssv663469,nssv685743 M 2026 0 3 "" esv23234 14 21864281 21868054 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20799 S 451 0 1 "" NA12044 nsv832745 14 21867480 22006855 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450875,nssv1450888,nssv1450853,nssv1450889,nssv1450872,nssv1450878,nssv1450865,nssv1450861,nssv1450863,nssv1450886,nssv1450868,nssv1450893,nssv1450860,nssv1450890,nssv1450866,nssv1450894,nssv1450857,nssv1450859,nssv1450855,nssv1450870,nssv1450885,nssv1450877,nssv1450856,nssv1450864,nssv1450871,nssv1450887,nssv1450858,nssv1450891,nssv1450869,nssv1450867,nssv1450876,nssv1450874,nssv1450883,nssv1450879,nssv1450854,nssv1450882,nssv1450881,nssv1450880,nssv1450892 M 95 39 0 "" esv270600 14 21872787 21872920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507802 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 nsv524622 14 21878594 21956159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700583 S 2026 0 1 "" nsv523766 14 21923525 21957570 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699587 S 2026 0 1 "" nsv511537 14 21947620 21953018 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626160 S 1 0 1 "" 1 esv2518377 14 21950930 21952406 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353576 S 1 0 1 "" NA18507 nsv512349 14 21951192 21952190 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624934 S 1 0 1 "" 1 esv2258028 14 21951335 21952272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659885 S 1 0 1 "" NA18507 esv3223 14 21951472 21952190 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25664 S 1 0 1 Single Asian sample YH "" YH esv6434 14 21951502 21952113 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28875 S 1 0 1 "" SJK esv991502 14 21951506 21952098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584444 S 3 0 1 "" HuRef dgv366n67 14 21951506 21952148 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826896,nsv826898 M 31 0 27 "" AK10,AK12,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821305 14 21951506 21952148 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421085 S 1 0 1 "" NA10851 nsv84357 14 21951507 21952099 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102935 M 24 "" esv25820 14 21951540 21952070 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17331 S 451 6 19 "" NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18505,NA18508,NA18523,NA18861,NA18909,NA18916,NA19108,NA19129,NA19225,NA19240 nsv9123 14 21952934 21966898 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21046 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv528745 14 21956159 21999998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705406 S 2026 0 1 "" nsv901488 14 21957570 22029432 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521649 S 6533 1 0 "" SP52506 nsv819847 14 21961642 22049326 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418765 S 2 0 1 "" AK1 nsv826899 14 21962040 21988031 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423734 S 31 0 1 "" NA18999 nsv1209 14 21969113 22012663 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1179 S 9 0 1 "" NA19240 dgv126n21 14 21970760 21986886 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516269,nsv527273 M 2026 0 8 "" dgv243n27 14 21970760 21986886 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456157,nsv456158 M 1557 0 2 "" HGDP00230,HGDP00938 esv26232 14 21977832 21987926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21168 S 451 0 2 "" NA12749,NA19240 nsv498823 14 21977845 21987947 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585684 S 9 0 1 "" esv992622 14 21987028 22056954 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586546 S 3 1 0 "" HuRef nsv456160 14 21991120 22029432 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533543 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01240 nsv456161 14 21995192 21999878 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533544 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00882 dgv611e1 14 22011989 22057862 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1308,essv12028 M 271 0 0 "" NA19116 nsv456162 14 22012730 22033486 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533545 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00438 nsv456164 14 22020088 22033486 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533547 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01173 nsv520779 14 22024617 22042795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688762,nssv675333 M 2026 0 2 "" esv8783 14 22028653 22030421 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31224 S 1 0 0 "" SJK nsv832746 14 22045388 22220635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450896 S 95 1 0 ABHD4,DAD1 nsv832748 14 22054064 22168775 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450897 S 95 1 0 ABHD4,DAD1 nsv1211 14 22055108 22089002 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2913 S 9 1 0 "" NA18555 esv7166 14 22077392 22077480 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29607 S 1 1 0 "" SJK nsv518467 14 22089004 22101673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695903 S 2026 0 1 "" nsv85174 14 22093004 22093079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103752 M 24 "" nsv519534 14 22122217 22122711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656725,nssv660669,nssv684671 M 2026 0 3 DAD1 nsv520576 14 22149570 22163380 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697499 S 2026 0 1 ABHD4 nsv1212 14 22157787 22184959 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1180,nssv4099,nssv2061 M 9 0 3 "" NA12878,NA18555,NA19240 esv28883 14 22163381 22169124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17929 S 451 0 5 "" NA18502,NA18505,NA18861,NA19108,NA19240 esv2422099 14 22164681 22169049 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5008883,essv5042018,essv5032908,essv5005924,essv5074315,essv5089997,essv5129032,essv5108194,essv5110485,essv5114439,essv5038997,essv5134920,essv5007688,essv5081807,essv5160500,essv5054600,essv5076226,essv5127346,essv5030811,essv5117499,essv5038175,essv5094715,essv5153416,essv5083748,essv5041671,essv5083932,essv5117681,essv5142791,essv5098569,essv5062708,essv5029103,essv5121409,essv5035893,essv5006528,essv5081242,essv5120038,essv5019803,essv5064283,essv5011008,essv5096724,essv5111813,essv5118250,essv5096466,essv5035557,essv5046240,essv5074664,essv5007306,essv5010402,essv5153396,essv5044344,essv5048737,essv5133671,essv5032724,essv5122291,essv5159612,essv5144243,essv5050991,essv5149743,essv5101071,essv5074836,essv5138363,essv5084358,essv5078487,essv5091365,essv5076286,essv5067372,essv5069077,essv5040177,essv5073135,essv5109649,essv5003847,essv5125717,essv5130075,essv5070990,essv5055806,essv5037926,essv5039456,essv5026657,essv5154246,essv5004733,essv5012704,essv5155802 M 1184 0 82 "" NA11893,NA12144,NA18485,NA18487,NA18501,NA18503,NA18505,NA18516,NA18518,NA18519,NA18861,NA18868,NA18912,NA18917,NA18930,NA19041,NA19044,NA19093,NA19094,NA19095,NA19097,NA19108,NA19116,NA19117,NA19120,NA19122,NA19123,NA19127,NA19152,NA19153,NA19154,NA19172,NA19174,NA19176,NA19179,NA19181,NA19182,NA19183,NA19189,NA19193,NA19194,NA19235,NA19236,NA19238,NA19239,NA19240,NA19248,NA19256,NA19316,NA19317,NA19318,NA19382,NA19429,NA19452,NA19467,NA19684,NA19773,NA19775,NA19818,NA19828,NA20300,NA20301,NA20302,NA20346,NA20347,NA20527,NA20752,NA20757,NA20769,NA20811,NA20885,NA21353,NA21355,NA21400,NA21401,NA21493,NA21494,NA21529,NA21573,NA21632,NA21685,NA21740 nsv442329 14 22164681 22169049 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv498824 14 22164706 22168525 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585685 S 9 0 1 "" nsv514734 14 22164966 22167932 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628202 S 1414 0 1 "" esv272301 14 22167053 22167207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579183,essv2579497 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268974 14 22167054 22167233 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496658,essv2504475,essv2505140,essv2501714,essv2495916,essv2508335,essv2508817,essv2500273,essv2502754,essv2496437,essv2496227,essv2509033,essv2498647,essv2495656,essv2497910,essv2512394,essv2493105,essv2505404,essv2512818,essv2498123 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11993,NA11995,NA12144,NA12489,NA12749,NA12878,NA12891,NA12892,NA18510,NA18511,NA18522,NA18858,NA18916,NA18945,NA18949,NA18951,NA18952,NA18980,NA19240 esv2005621 14 22174765 22177896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723031 S 1 0 1 "" NA18507 nsv512350 14 22174771 22177796 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624935 S 1 0 1 "" 1 esv2486376 14 22174812 22180019 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168817 S 1 0 1 "" NA18507 esv2294205 14 22174853 22179211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593955 S 1 0 1 "" NA18507 esv6475 14 22174955 22177787 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28916 S 1 0 1 "" SJK esv2162430 14 22177789 22179309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540872 S 1 0 1 "" NA18507 dgv127n21 14 22230034 22329539 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522569,nsv528804 M 2026 2 0 OXA1L,SLC7A7 nsv901489 14 22242129 22306364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521650 S 6533 1 0 OXA1L SP52506 esv2581915 14 22242439 22244103 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231644 S 1 0 1 "" NA18507 esv1962838 14 22242882 22243317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877673 S 1 0 1 "" NA18507 nsv84994 14 22258660 22258897 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103572 M 24 "" nsv1213 14 22265827 22284362 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2062 S 9 1 0 "" NA18555 nsv819358 14 22314843 22350216 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418720 S 2 0 1 SLC7A7 AK1 nsv519176 14 22327968 22328029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696659 S 2026 0 1 SLC7A7 nsv522410 14 22327968 22340436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695192 S 2026 0 1 SLC7A7 nsv901490 14 22373934 22432468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549857 S 6533 0 1 LRP10,MMP14,MRPL52,REM2 MS18276 nsv1214 14 22416901 22429541 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9174 S 9 0 1 LRP10,REM2 NA12156 esv2452299 14 22574608 22576100 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290133 S 1 0 1 "" NA18507 esv1770612 14 22575356 22575546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893705 S 2 0 1 "" HuRef nsv84692 14 22575529 22575718 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103270 M 24 "" nsv901491 14 22578816 22615639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510069 S 6533 0 1 ACIN1,CDH24,PSMB11 SP54956 esv259929 14 22605321 22605696 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396515,essv2398432,essv2399677 M 144 0 0 Samples from several populations that are part of the HapMap project. ACIN1 NA18517,NA18871,NA19210 nsv518632 14 22631033 22633735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694255 S 2026 0 1 ACIN1 nsv901492 14 22657071 22697830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556015 S 6533 0 1 CEBPE,SLC7A8 MS21738 nsv1215 14 22673997 22706847 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2063 S 9 1 0 SLC7A8 NA18555 nsv901493 14 22836431 22960822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546845 S 6533 0 1 BCL2L2,BCL2L2-PABPN1,CMTM5,EFS,IL25,MIR208A,MIR208B,MYH6,MYH7,PABPN1,PPP1R3E,SLC22A17 MS17208 nsv470623 14 22930548 22957705 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547546 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR208B,MYH6,MYH7 HGDP00564 nsv456166 14 22931651 22957705 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533548 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR208B,MYH6,MYH7 HGDP00564 nsv512351 14 22988929 22992820 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624936 S 1 0 1 "" 1 esv2573361 14 22991568 22993205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382060 S 1 0 1 "" NA18507 esv2065415 14 22991915 22992675 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846318 S 1 0 1 "" NA18507 esv3362 14 22992042 22992634 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25803 S 1 0 1 Single Asian sample YH "" YH esv7516 14 22992086 22992487 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29957 S 1 0 1 "" SJK esv27690 14 23008220 23008679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11160 S 451 0 1 "" NA12239 nsv524778 14 23058626 23060945 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700769 S 2026 0 1 ZFHX2 esv274985 14 23170299 23173961 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585975 S 1250 0 1 "" nsv1216 14 23205370 23234492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10009 S 9 1 0 "" NA18956 esv2172120 14 23244668 23245387 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518117 S 1 0 1 "" NA18507 esv4020 14 23244677 23245271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26461 S 1 0 1 Single Asian sample YH "" YH esv9529 14 23244856 23245185 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31970 S 1 0 1 "" SJK nsv526100 14 23294841 23304240 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702348 S 2026 1 0 "" esv259658 14 23306114 23306387 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394131,essv2393862,essv2393999 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 esv1704544 14 23306283 23306283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210973 S 2 1 0 "" HuRef nsv901494 14 23313477 23455999 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521651 S 6533 1 0 "" SP52506 nsv826900 14 23334728 23341586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435393 S 31 0 1 "" NA18942 esv259483 14 23439151 23439556 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394237,essv2393890,essv2393843 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv259690 14 23439155 23439564 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398615,essv2396753,essv2400204,essv2400046,essv2396083,essv2398788,essv2394739,essv2398609,essv2399020,essv2400263,essv2395841,essv2396724,essv2398469,essv2401138,essv2397545,essv2400897,essv2398905,essv2396033,essv2395757,essv2396249,essv2400562,essv2397575,essv2394472,essv2398071,essv2400292,essv2396818,essv2399962,essv2396276,essv2399612,essv2398272,essv2399199,essv2397290,essv2401034,essv2396936,essv2397611,essv2397837,essv2394982,essv2396495,essv2397459,essv2396061,essv2400954,essv2395118,essv2400362,essv2399875,essv2398528,essv2400860,essv2397200,essv2397883,essv2398836,essv2400424,essv2395549,essv2399156,essv2396846,essv2400092,essv2398199,essv2400665,essv2395306,essv2400000,essv2394901,essv2394441,essv2396209,essv2395896,essv2395482,essv2398159,essv2397118,essv2400801,essv2394537,essv2400395,essv2395807,essv2399655,essv2398742,essv2394835,essv2394482 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12716,NA12761,NA12763,NA12776,NA12878,NA12891,NA12892,NA18489,NA18505,NA18511,NA18517,NA18520,NA18537,NA18547,NA18550,NA18555,NA18561,NA18562,NA18564,NA18572,NA18577,NA18582,NA18592,NA18593,NA18609,NA18638,NA18861,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA19005,NA19114,NA19257 esv1991504 14 23464197 23464651 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733374 S 1 0 1 C14orf165 NA18507 esv1001762 14 23464397 23464449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568549 S 3 0 1 C14orf165 HuRef esv1265334 14 23464415 23464468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063140 S 2 0 1 C14orf165 HuRef nsv85328 14 23464416 23464468 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103906 M 24 C14orf165 nsv1217 14 23470405 23582529 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2064,nssv4103,nssv10010,nssv10916,nssv5490,nssv6585,nssv10915,nssv9503,nssv10011,nssv9299,nssv6584,nssv1182,nssv2065,nssv5493,nssv10012,nssv6586,nssv5492,nssv1183,nssv4100 M 9 0 9 C14orf165,C14orf167,DHRS4,DHRS4L1,DHRS4L2 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv525015 14 23471589 23476146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701054 S 2026 0 1 C14orf165 nsv89 14 23475038 23545053 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv89 S 1 0 1 C14orf167,DHRS4,DHRS4L2 NA15510 nsv1218 14 23480685 23522458 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9175,nssv1181,nssv4101 M 9 3 0 C14orf167,DHRS4,DHRS4L2 NA12156,NA12878,NA19240 esv27040 14 23490165 23493508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9830 S 451 0 1 C14orf167,DHRS4 NA18502 nsv9124 14 23494551 23544616 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21056 S 31 0 1 Samples from several populations that are part of the HapMap project. DHRS4,DHRS4L2 NA19007 nsv509528 14 23497616 23516314 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618104,nssv623660 M 4 2 0 DHRS4,DHRS4L2 CHM,NA18994 nsv511030 14 23497616 23559088 OTHER Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621627,nssv622403 M 4 0 0 DHRS4,DHRS4L2 NA10860,NA15510 esv2421714 14 23499089 23554299 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5043147,essv5104486,essv5067999,essv5077241,essv5071586,essv5111060,essv5081188,essv5027339,essv5160344,essv5129539,essv5096669,essv5076768,essv5136736,essv5089106,essv5104023,essv5115625,essv5043953,essv5028534,essv5104302,essv5006278,essv5019349,essv5094542,essv5119361,essv5044343,essv5047392,essv5102101,essv5097191,essv5145550,essv5058338,essv5086010,essv5129928,essv5095791 M 1184 0 32 DHRS4,DHRS4L2 NA10836,NA12340,NA12718,NA12892,NA18488,NA18509,NA18558,NA18571,NA18995,NA19007,NA19046,NA19085,NA19128,NA19138,NA19139,NA19308,NA19375,NA19380,NA19393,NA19446,NA19703,NA20332,NA20333,NA20350,NA20771,NA20775,NA20853,NA21088,NA21486,NA21524,NA21525,NA21529 dgv1854n71 14 23499089 23570940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901496,nsv901495 M 6533 0 3 DHRS4,DHRS4L2 SP53048,SP53601,SP54561 nsv901497 14 23499089 23584289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507237 S 6533 1 0 DHRS4,DHRS4L1,DHRS4L2 SP54509 esv33403 14 23499453 23574945 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97565,essv94106,essv97448 M 51 0 3 DHRS4,DHRS4L2 21616,21802,21879 nsv436726 14 23511425 23512165 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466755 S 2 1 0 Samples from several populations that are part of the HapMap project. DHRS4L2 NA18505 dgv20n47 14 23511733 23512386 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499246,nsv499713 M 9 2 0 DHRS4L2 nsv512352 14 23512696 23555899 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624937 S 1 0 1 DHRS4L2 1 nsv513749 14 23513216 23555433 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627001 S 1 1 0 DHRS4L2 1 esv28806 14 23516318 23517044 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14539 S 451 0 1 DHRS4L2 NA18861 nsv436830 14 23517254 23552256 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466756 S 2 1 0 Samples from several populations that are part of the HapMap project. DHRS4L2 NA18505 nsv826901 14 23527155 23578308 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425305 S 31 0 1 DHRS4L1,DHRS4L2 AK2 nsv482169 14 23527867 23545459 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558530 S 1 1 0 DHRS4L2 KB1 nsv510630 14 23532746 23559088 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622681,nssv617412 M 4 0 2 DHRS4L2 CHM,NA18994 nsv91 14 23539508 23574552 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv91 S 1 0 1 DHRS4L2 NA15510 esv988372 14 23541000 23543014 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574615 S 3 0 1 DHRS4L2 HuRef esv1586699 14 23541008 23543023 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293099 S 2 0 1 DHRS4L2 HuRef nsv84893 14 23541009 23543023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103471 M 24 DHRS4L2 nsv9126 14 23545680 23575554 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25148,nssv22208 M 31 2 0 Samples from several populations that are part of the HapMap project. DHRS4L1 NA12155,NA18860 esv25830 14 23546176 23554228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18144 S 451 0 2 "" NA11995,NA12004 nsv1219 14 23551384 23560817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6587,nssv10013 M 9 2 0 "" NA12156,NA18956 nsv436015 14 23553734 23556062 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466757 S 2 1 0 "" NA15510 nsv516023 14 23559445 23620064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685511,nssv691221,nssv696637,nssv682486,nssv665776,nssv678429 M 2026 0 6 CPNE6,DHRS4L1,LRRC16B,NRL nsv482170 14 23575550 23590420 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558531 S 1 1 0 DHRS4L1 KB1 esv272219 14 23582365 23582450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581114 S 7 1 0 Samples from several populations that are part of the HapMap project. DHRS4L1 NA19240 esv988353 14 23640691 23645412 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565746 S 3 0 1 PCK2 HuRef nsv819606 14 23642920 23649011 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419754 S 2 0 1 PCK2 AK1 nsv901498 14 23661732 23732017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543644 S 6533 0 1 DCAF11,FAM158A,FITM1,IPO4,IRF9,PSME1,PSME2,REC8,RNF31,TM9SF1 MS16153 nsv7249 14 23697349 23721171 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6588 S 9 0 0 IPO4,IRF9,REC8,RNF31 NA12156 nsv522667 14 23711366 23724430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706071 S 2026 0 1 IPO4,REC8 nsv1220 14 23720607 23735813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1184,nssv4104 M 9 2 0 IPO4,TM9SF1 NA12878,NA19240 nsv84620 14 23748104 23748104 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103198 M 24 "" dgv1855n71 14 23835462 23863602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901500,nsv901499,nsv901501 M 6533 0 3 ADCY4,C14orf21,CIDEB,DHRS1,LTB4R,LTB4R2 IS38538,IS39233,IS39417 nsv516237 14 23863602 23869198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682128,nssv669111,nssv666991,nssv686806,nssv670608 M 2026 0 5 ADCY4 esv272516 14 23864228 23864313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581144 S 7 1 0 Samples from several populations that are part of the HapMap project. ADCY4 NA19240 esv1337239 14 23903655 23903748 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800816 S 2 0 1 "" HuRef esv6722 14 23927661 23929653 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29163 S 1 0 0 "" SJK nsv819071 14 23978462 23978678 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419259 S 2 0 1 KHNYN AK1 nsv482171 14 23978814 23981847 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558532 S 1 0 1 KHNYN,SDR39U1 KB1 esv25350 14 23984580 24021697 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18532,esv19772 M 451 3 0 "" NA18502,NA18505,NA19108 nsv1222 14 23984668 24007478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5494 S 9 1 0 "" NA19129 dgv128n21 14 23985223 24062459 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521915,nsv523200 M 2026 2 0 CMA1 nsv511031 14 23994965 24047834 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621628 S 4 0 0 CMA1 NA15510 nsv510367 14 23999200 24005200 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618396 S 4 0 1 "" CHM esv2328029 14 24002274 24002804 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903499 S 1 0 1 "" NA18507 nsv85110 14 24002460 24002623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103688 M 24 "" nsv510368 14 24008671 24014671 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622243,nssv624157,nssv618397 M 4 0 3 "" CHM,NA10860,NA18994 esv1531386 14 24012815 24012815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256684 S 2 1 0 "" HuRef nsv520387 14 24023842 24037660 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692745,nssv691222,nssv663539 M 2026 3 0 "" nsv510631 14 24115023 24242151 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622682 S 4 0 1 CTSG,GZMB,GZMH NA18994 nsv901502 14 24144551 24171546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591157,nssv1599788 M 6533 0 2 GZMB,GZMH IS38646,IS41788 nsv901503 14 24203026 24242296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511791 S 6533 1 0 "" SP55077 nsv901504 14 24254050 24716043 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511792 S 6533 1 0 STXBP6 SP55077 nsv901505 14 24307108 24430424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517445 S 6533 1 0 STXBP6 SP57273 nsv820216 14 24331988 24333066 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419167 S 2 0 1 "" AK1 nsv510369 14 24332117 24338117 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618398,nssv622244,nssv624158,nssv621410 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv826902 14 24332119 24333038 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431613,nssv1437745,nssv1440636,nssv1429890,nssv1429386,nssv1429496,nssv1432392,nssv1427034,nssv1430131,nssv1428628,nssv1427819 M 31 0 11 "" AK10,AK12,AK14,AK18,AK20,AK6,AK8,NA18564,NA18947,NA18949,NA18968 esv25391 14 24332137 24332912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21242 S 451 0 7 "" NA12004,NA12239,NA12749,NA18858,NA18861,NA19099,NA19108 nsv826903 14 24332443 24333038 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422143 S 31 0 1 "" NA18997 nsv525203 14 24340175 24352807 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701285 S 2026 1 0 STXBP6 nsv456169 14 24340175 24358067 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533549 S 1557 1 0 STXBP6 1782681263_A nsv901506 14 24365391 24447028 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537395 S 6533 1 0 STXBP6 MS13179 nsv901507 14 24424280 25928728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512579 S 6533 1 0 STXBP6 SP55557 esv21738 14 24434209 24434959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12764 S 451 0 3 STXBP6 NA18907,NA19099,NA19240 nsv901508 14 24435345 24521743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517163 S 6533 1 0 STXBP6 SP57199 nsv901509 14 24468411 24813324 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537396 S 6533 1 0 STXBP6 MS13179 nsv901510 14 24546010 24596149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517164 S 6533 1 0 STXBP6 SP57199 esv25325 14 24567621 24569032 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19160 S 451 0 1 STXBP6 NA18861 nsv901511 14 24574925 24657869 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520773 S 6533 1 0 STXBP6 SP51242 nsv527684 14 24583966 24588166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704160 S 2026 0 1 STXBP6 esv23863 14 24606192 24607162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15004 S 451 0 1 "" NA19114 esv267449 14 24637489 24637574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516017 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv267887 14 24651573 24651906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557965,essv2565620,essv2546245,essv2556755,essv2545312,essv2577391,essv2550651,essv2554268,essv2520590,essv2547556,essv2565210,essv2520209,essv2561934,essv2520904,essv2557101,essv2552606,essv2569310,essv2578651,essv2537107,essv2538932,essv2527101,essv2561401,essv2523663,essv2553073,essv2541342,essv2538282,essv2564791,essv2534507,essv2549422,essv2519681,essv2559918,essv2532619,essv2567845,essv2567343,essv2570039,essv2563587,essv2572247,essv2566896,essv2541917,essv2550969,essv2569161,essv2543577,essv2556136,essv2528091,essv2539368,essv2534070,essv2573122,essv2555569,essv2566475,essv2527471,essv2557673,essv2534399,essv2522389,essv2531387,essv2576988,essv2529792,essv2575519,essv2574653,essv2572831,essv2568653,essv2560413,essv2549800,essv2545762,essv2574219,essv2551238,essv2554640 M 157 66 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11829,NA11881,NA11994,NA12003,NA12043,NA12155,NA12287,NA12716,NA12717,NA12812,NA12815,NA12874,NA18498,NA18501,NA18502,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18537,NA18542,NA18545,NA18547,NA18558,NA18561,NA18564,NA18566,NA18570,NA18576,NA18577,NA18582,NA18593,NA18603,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA18942,NA18945,NA18948,NA18952,NA18953,NA18959,NA18960,NA18961,NA18970,NA19093,NA19099,NA19138,NA19143,NA19147,NA19190,NA19225,NA19239,NA19240,NA19257 esv273770 14 24651573 24651906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584751,essv2583791 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1073278 14 24668957 24668957 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609336 S 2 1 0 "" HuRef esv1003790 14 24678525 24686546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565708 S 3 0 1 "" HuRef nsv515613 14 24680517 24681991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674143,nssv670266,nssv693676,nssv664405,nssv664351,nssv687611,nssv687360,nssv671017,nssv692509,nssv679693,nssv671744,nssv684456,nssv670584,nssv678938,nssv669830,nssv677189,nssv687002,nssv664103,nssv669471,nssv688740,nssv676712,nssv667518,nssv669642,nssv675986,nssv654424,nssv672369,nssv656510,nssv662098,nssv672702,nssv693759,nssv664523 M 2026 0 31 "" nsv524648 14 24680517 24686028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700614 S 2026 0 1 "" nsv901512 14 24680517 24813324 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520774 S 6533 1 0 "" SP51242 esv994509 14 24681892 24683463 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587135 S 3 0 1 "" HuRef nsv84679 14 24705739 24705825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103257 M 24 "" dgv1856n71 14 24736471 24937588 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901513,nsv901515,nsv901516 M 6533 5 0 "" SP51411,SP52704,SP53240,SP56731,SP57489 nsv901514 14 24742520 24785576 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519157 S 6533 1 0 "" SP80959 esv1003592 14 24810434 24815313 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564337 S 3 1 0 "" HuRef esv7772 14 24813585 24813681 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30213 S 1 1 0 "" SJK esv28329 14 24828066 24829005 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17194 S 451 2 0 "" NA12239,NA18907 esv1005840 14 24831632 24838459 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565661 S 3 0 1 "" HuRef esv2653389 14 24876109 24879628 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387189 S 1 0 1 "" NA18507 nsv901517 14 24883918 24981935 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525973 S 6533 1 0 "" SP56909 nsv832749 14 24892780 25062126 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450898 S 95 0 1 "" nsv901518 14 24910990 24979226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537397 S 6533 1 0 "" MS13179 nsv832750 14 24926668 25091932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450899 S 95 1 0 "" esv2213996 14 24994113 24994539 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530821 S 1 0 1 "" NA18507 nsv901519 14 25019117 25113769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564151 S 6533 0 1 "" IS30171 esv1933025 14 25029397 25029805 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908172 S 1 0 1 "" NA18507 esv2503411 14 25075150 25076762 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240455 S 1 0 1 "" NA18507 esv2314412 14 25075457 25076100 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956881 S 1 0 1 "" NA18507 esv271712 14 25116670 25116984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542418,essv2523342,essv2577280,essv2570503,essv2554270,essv2559623,essv2576459,essv2561911,essv2556969,essv2552442,essv2532266,essv2561731,essv2524369,essv2566747,essv2550905,essv2555450,essv2567084,essv2573948,essv2573667,essv2526530,essv2524140,essv2571440,essv2574328,essv2551295,essv2536328 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11919,NA12004,NA12043,NA12044,NA12287,NA12776,NA12814,NA12874,NA18501,NA18502,NA18505,NA18523,NA18555,NA18853,NA18858,NA18943,NA18947,NA18951,NA18964,NA19114,NA19129,NA19238,NA19240,NA19257 esv274598 14 25116671 25116993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584065,essv2583457 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv832751 14 25158882 25369411 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450900 S 95 0 1 "" nsv901520 14 25169237 25230518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579475 S 6533 1 0 "" IS35107 nsv901521 14 25187715 25230518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566497 S 6533 1 0 "" IS30763 esv2508075 14 25216583 25218282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379559 S 1 0 1 "" NA18507 esv2106003 14 25216756 25217484 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744122 S 1 0 1 "" NA18507 esv989785 14 25253986 25253988 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568259 S 3 1 0 "" HuRef esv1380365 14 25253999 25253999 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845589 S 2 1 0 "" HuRef dgv612e1 14 25297720 25474958 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3020,essv24382,essv3374,essv7160,essv23472,essv19688,essv15129,essv1852,essv24086,essv4757,essv20031,esv40,essv22515,essv17771,essv16217,essv5236 M 271 0 0 "" NA07034,NA07048,NA10831,NA10859,NA11882,NA12264,NA12707,NA18547,NA18620,NA18624,NA18945,NA18976,NA18981,NA19129,NA19161 esv26860 14 25353287 25354619 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10476,esv18405 M 451 7 1 "" NA06985,NA12239,NA18523,NA18858,NA18861,NA18909,NA19190,NA19240 dgv367n67 14 25353922 25354690 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826905,nsv826904,nsv826906 M 31 13 0 "" AK10,AK14,AK18,AK2,AK8,NA18526,NA18537,NA18566,NA18570,NA18582,NA18942,NA18947,NA18968 nsv821183 14 25353922 25354850 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421086 S 1 0 1 "" NA10851 nsv1223 14 25366811 25401012 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9176 S 9 1 0 "" NA12156 esv1229630 14 25405702 25405702 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367470 S 2 1 0 "" HuRef esv1098745 14 25406720 25407022 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749233 S 2 0 1 "" HuRef nsv456170 14 25493319 25548451 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533550 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00734 nsv470624 14 25493319 25548451 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547547 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682 esv268857 14 25496174 25496381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506864,essv2498993,essv2498938 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19102,NA19114,NA19138 nsv510370 14 25552922 25558922 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622245 S 4 0 1 "" NA10860 esv269595 14 25594251 25594572 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510182,essv2510961,essv2495467,essv2511857,essv2494887,essv2506211,essv2512953,essv2497246,essv2507833,essv2506327,essv2501612,essv2511633,essv2502369,essv2497393,essv2495936 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831,NA11919,NA18499,NA18520,NA18523,NA18547,NA18552,NA18564,NA18566,NA18608,NA18940,NA18948,NA18959,NA18961 nsv511533 14 25659394 25663831 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626156 S 1 0 1 "" 1 esv22904 14 25660604 25662842 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19768 S 451 0 8 "" NA06985,NA07037,NA07045,NA11931,NA12044,NA12776,NA18502,NA19240 nsv512353 14 25660644 25662492 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624938 S 1 0 1 "" 1 esv4349 14 25660721 25662381 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26790 S 1 0 1 Single Asian sample YH "" YH dgv368n67 14 25661175 25662190 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826909,nsv826907 M 31 0 3 "" NA18564,NA18942,NA18997 nsv826910 14 25661510 25662190 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435796 S 31 0 1 "" NA18592 esv2751270 14 25758530 25854753 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989474,essv6990075,essv6985089 M 771 0 1 "" BEC_95 esv8200 14 25771363 25771747 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30641 S 1 0 1 "" SJK esv5371 14 25771394 25771804 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27812 S 1 0 1 Single Asian sample YH "" YH esv988779 14 25771447 25771757 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577449 S 3 0 1 "" HuRef esv269227 14 25810780 25811079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504088,essv2496367,essv2510465,essv2499799,essv2502048 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18510,NA19172,NA19225,NA19257 nsv442330 14 25832761 25849239 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv34427 14 25833100 25854753 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978244,essv6989008 M 771 0 1 "" NA18991 esv35052 14 25833100 25904409 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979348,essv6979349 M 771 0 1 "" NA18532 dgv613e1 14 25833467 25854753 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3649,esv1028 M 271 0 0 "" NA18991 esv1230295 14 25891714 25891810 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709672 S 2 0 1 "" HuRef nsv901522 14 25921822 26042824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582124,nssv1563324 M 6533 0 2 NOVA1 IS35789,MS25963 nsv84603 14 25948412 25948473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103181 M 24 "" nsv85659 14 26011784 26021034 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104237 M 24 NOVA1 esv270930 14 26110018 26110338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510554,essv2504229,essv2505992,essv2507377,essv2499717,essv2501832 M 157 6 0 Samples from several populations that are part of the HapMap project. NOVA1 NA18501,NA18505,NA18523,NA18912,NA19225,NA19239 esv273188 14 26110018 26110355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580505,essv2581010 M 7 2 0 Samples from several populations that are part of the HapMap project. NOVA1 NA12891,NA19238 nsv516289 14 26153497 26159322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688878,nssv679872,nssv674303,nssv667362 M 2026 0 4 "" nsv901523 14 26168012 26219135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500516 S 6533 0 1 "" SP50125 nsv901524 14 26223900 26256132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564899,nssv1568474,nssv1567253,nssv1579951,nssv1598011,nssv1579481,nssv1571714,nssv1590521,nssv1590388,nssv1584947 M 6533 0 10 "" IS30316,IS31062,IS31286,IS32800,IS35111,IS35195,IS37210,IS38504,IS38521,IS40867 nsv524666 14 26233927 26254639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700635 S 2026 0 1 "" nsv523231 14 26244242 26304106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698954 S 2026 0 1 "" nsv901525 14 26244242 26420469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514136 S 6533 1 0 "" SP55947 nsv428294 14 26268855 26451825 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452478 S 62 1 0 MIR4307 NA18916 esv26036 14 26350608 26398931 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17751 S 451 1 0 "" NA18916 nsv832752 14 26371296 26537745 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450901 S 95 0 1 MIR4307 nsv901526 14 26411342 26631223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506223 S 6533 0 1 MIR4307 SP54083 esv2030176 14 26438870 26439282 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599169 S 1 0 1 "" NA18507 nsv901527 14 26494184 26545320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592765 S 6533 0 1 "" IS39250 nsv520192 14 26508306 26557988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697272 S 2026 0 1 "" nsv832753 14 26520749 26678310 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450902 S 95 0 1 "" nsv901528 14 26524058 26628203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502347 S 6533 0 1 "" SP51043 esv29854 14 26547097 26548145 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15528 S 451 1 0 "" NA12776 nsv456171 14 26552009 26557988 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533551 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00998 nsv520542 14 26552009 26557988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672347,nssv686134 M 2026 0 2 "" nsv901529 14 26581229 26724718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592947 S 6533 0 1 "" IS39322 nsv901530 14 26581229 26793536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584064 S 6533 0 1 "" IS36789 nsv832754 14 26582402 26743658 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450904,nssv1450903 M 95 2 0 "" esv2462629 14 26595455 26596449 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341768 S 1 1 0 "" NA18507 esv271131 14 26595965 26596288 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556976,essv2552355,essv2562764,essv2536817,essv2539017,essv2543510,essv2556293,essv2562340,essv2534151,essv2575057,essv2538746,essv2526538,essv2572785,essv2549662,essv2571430,essv2545969,essv2574081,essv2551219 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18507,NA18517,NA18519,NA18870,NA18871,NA18909,NA18916,NA19102,NA19108,NA19114,NA19143,NA19225,NA19238,NA19239,NA19240,NA19257 esv273505 14 26595968 26596295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584000,essv2584866,essv2583451 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 dgv1857n71 14 26598080 26666082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901531,nsv901532 M 6533 0 2 "" IS33812,SP57367 nsv522117 14 26598080 26739376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694890 S 2026 0 1 "" nsv526933 14 26605274 26666770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703301 S 2026 0 1 "" nsv901533 14 26617142 26713287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512534 S 6533 0 1 "" SP55551 nsv526269 14 26640400 26705122 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702542 S 2026 0 1 "" nsv901534 14 26705122 26802816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561579 S 6533 0 1 "" MS25101 nsv456175 14 26733505 26785852 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533552 S 1557 0 1 "" 1780854219_A nsv528232 14 26737249 26739376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704794 S 2026 0 1 "" dgv1858n71 14 26751374 27284462 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901535,nsv901538,nsv901539 M 6533 0 3 LOC100505967 MS10737,MS24390,SP58378 esv2637061 14 26768667 26770194 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183954 S 1 0 1 "" NA18507 nsv9127 14 26810831 27124966 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20222 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 esv2603704 14 26834891 26835187 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165712 S 1 1 0 "" NA18507 nsv513406 14 26835076 26835346 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625804 S 1 1 0 "" 1 dgv1859n71 14 26839565 27175888 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901536,nsv901537 M 6533 2 0 LOC100505967 MS20925,MS23191 nsv527092 14 26879935 26885847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703471 S 2026 0 1 "" nsv819400 14 26885721 26887441 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419313 S 2 0 1 "" AK1 nsv456177 14 26906826 26946105 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533553 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00608 dgv1860n71 14 26929914 27054363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901541,nsv901540 M 6533 0 2 "" IS35509,MS12129 esv2417727 14 26934516 26934996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973751 S 1 0 1 "" NA18507 nsv85105 14 26948277 26954299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103683 M 24 "" dgv1861n71 14 26976000 27107338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901542,nsv901546,nsv901545 M 6533 0 3 "" IS33530,MS15672,MS22798 dgv1862n71 14 26976000 27218259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901544,nsv901543 M 6533 0 2 LOC100505967 IS31094,IS31137 nsv520836 14 26994025 27097765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705312,nssv704538,nssv704945,nssv703864,nssv693162,nssv676279 M 2026 0 6 "" nsv901547 14 27010072 27074470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597078,nssv1545532 M 6533 0 2 "" IS40729,MS16824 esv269855 14 27011801 27011886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514791,essv2517611,essv2516873 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12878,NA12892 esv273980 14 27011806 27011977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581897,essv2582775 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv1863n71 14 27062720 27165663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901548,nsv901552,nsv901549 M 6533 0 3 LOC100505967 IS31205,IS32607,IS33330 dgv1864n71 14 27075055 27218259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901551,nsv901555,nsv901554,nsv901550,nsv901553 M 6533 0 7 LOC100505967 IS31335,IS38263,IS39944,IS41043,MS15312,MS18978,MS20872 nsv470625 14 27085022 27176448 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547548 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100505967 HGDP00984 nsv456178 14 27093646 27156570 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533554 S 1557 0 1 LOC100505967 1787431198_A nsv456179 14 27093646 27198064 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533555 S 1557 0 1 LOC100505967 1780862001_A nsv510371 14 27094999 27100999 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621411 S 4 0 1 "" NA15510 dgv1865n71 14 27121453 27198064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901556,nsv901557 M 6533 0 2 LOC100505967 IS32150,IS39718 dgv614e1 14 27134939 27513082 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1844,essv20056,esv133,essv3411,essv5328,essv7011,essv15512 M 271 0 0 LOC100505967 NA07048,NA18505,NA18563,NA18612,NA18945,NA18976 nsv456180 14 27189441 27252967 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533556 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01034 nsv470626 14 27189441 27292951 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547549 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01034 nsv901558 14 27239855 27292951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541452 S 6533 0 1 "" MS15312 esv21486 14 27280845 27401766 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11792 S 451 1 0 "" NA18505 nsv9128 14 27285651 27399660 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21887 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv819230 14 27292065 27398635 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418772 S 2 0 1 "" AK1 essv2878 14 27310291 27513082 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18953 nsv901559 14 27330006 27422655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557086 S 6533 0 1 "" MS22353 nsv510372 14 27330994 27336994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622246 S 4 0 1 "" NA10860 esv271928 14 27371068 27371153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514685,essv2517047,essv2515464,essv2515168,essv2514474,essv2519026,essv2513963,essv2518296,essv2513692 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11931,NA12249,NA12812,NA12874,NA19141,NA19143,NA19240 esv273669 14 27371068 27371153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581271 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv1866n71 14 27405193 27534453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901560,nsv901562,nsv901561 M 6533 0 3 "" IS35229,IS41068,MS18620 nsv456181 14 27424438 27511721 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533557 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01053 nsv9129 14 27460740 27466646 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24785 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv518260 14 27470396 27490931 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695691 S 2026 0 1 "" dgv129n21 14 27489495 27490931 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523307,nsv521778 M 2026 0 2 "" nsv817623 14 27489495 27500305 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418101 S 112 0 1 "" NA10859 dgv244n27 14 27489495 27534453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456187,nsv456188 M 1557 0 2 "" 1780854536_A,NINDS_222 nsv817624 14 27499206 27536067 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416393 S 112 0 1 "" NA18855 nsv901563 14 27516561 27629863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570014 S 6533 0 1 "" IS31765 dgv1867n71 14 27525971 27600341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901566,nsv901567,nsv901570,nsv901564,nsv901568,nsv901565,nsv901569 M 6533 0 45 "" IS30222,IS30243,IS30288,IS30307,IS30434,IS30520,IS31563,IS31825,IS31915,IS32446,IS32532,IS33705,IS33711,IS34642,IS35161,IS35568,IS35833,IS35919,IS36099,IS36273,IS36287,IS36612,IS36689,IS36820,IS37691,IS38092,IS38184,IS38193,IS38209,IS38400,IS38454,IS38607,IS38616,IS38646,IS39861,IS40063,IS40653,IS40825,IS40832,IS40867,IS40955,IS41783,IS41788,IS41979,IS41981 nsv456190 14 27532119 27554764 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533561 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00173 nsv456191 14 27532119 27589002 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533562 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00630 nsv470628 14 27532119 27589002 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547550,nssv547551 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00627,HGDP00630 esv268952 14 27577905 27579061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494675,essv2513267,essv2502228 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18907,NA19257 esv271020 14 27608127 27608307 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494767,essv2500890,essv2501346,essv2504751,essv2506947,essv2506688 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18856,NA19093,NA19099,NA19102,NA19108 nsv456192 14 27639535 27683818 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533563 S 1557 0 1 "" NINDS_173 nsv901571 14 27654181 27741858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568028 S 6533 0 1 "" IS31187 nsv470629 14 27677825 27727139 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547552 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 esv267442 14 27694470 27694555 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517071 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv507737 14 27731043 27737043 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619124,nssv617877,nssv623161,nssv620555 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv436175 14 27736578 27743723 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466758 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22901 14 27737168 27742918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19835 S 451 0 2 "" NA18505,NA19099 nsv507738 14 27737484 27743484 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623162,nssv617878,nssv620556 M 4 3 0 "" CHM,NA15510,NA18994 nsv442331 14 27738124 27740489 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421398 14 27738124 27742226 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5125571,essv5102944,essv5111979,essv5119744,essv5091818,essv5069728,essv5078308,essv5141768,essv5019590,essv5121871,essv5051646,essv5071886,essv5148817,essv5146700,essv5056154,essv5073087,essv5156998,essv5115173,essv5004559,essv5050613,essv5056805,essv5013739,essv5076004,essv5079184,essv5062727,essv5047148,essv5143425,essv5059919,essv5047536,essv5055684,essv5116510,essv5102290,essv5021167,essv5130593,essv5147508 M 1184 0 35 "" NA18501,NA18505,NA18509,NA18511,NA18518,NA18520,NA18852,NA18870,NA18913,NA19099,NA19116,NA19140,NA19160,NA19198,NA19199,NA19201,NA19430,NA19438,NA19452,NA19471,NA19472,NA19711,NA19788,NA19914,NA19915,NA20288,NA21308,NA21309,NA21352,NA21353,NA21370,NA21408,NA21522,NA21682,NA21723 nsv514735 14 27738316 27740908 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628204 S 1414 0 1 "" nsv901572 14 27796217 27866669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551681 S 6533 0 1 "" MS18976 nsv1224 14 27849111 27894284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9177 S 9 0 1 "" NA12156 nsv526536 14 27861440 30208129 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702849 S 2026 1 0 C14orf23,FOXG1,G2E3,PRKD1,SCFD1 nsv901573 14 27878835 27958722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600097 S 6533 0 1 "" IS41839 nsv1225 14 27937491 27965033 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2068 S 9 0 1 "" NA18555 esv2505524 14 27939259 27942931 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231581 S 1 0 1 "" NA18507 esv2017213 14 27939411 27942122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558857 S 1 0 1 "" NA18507 esv3419 14 27939570 27941987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25860 S 1 0 1 Single Asian sample YH "" YH nsv498825 14 27939594 27941915 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585686 S 9 0 1 "" nsv85190 14 27939598 27941914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103768 M 24 "" esv25795 14 27939635 27942908 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15567 S 451 0 6 "" NA12776,NA18502,NA18858,NA18861,NA18907,NA18916 nsv514736 14 27939668 27942038 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627136 S 1414 0 0 "" nsv832755 14 27958992 28138444 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450905 S 95 1 0 "" nsv1226 14 27963151 27996997 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5495 S 9 1 0 "" NA19129 nsv832756 14 28014644 28169731 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450907 S 95 1 0 "" nsv84340 14 28087752 28097097 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102918 M 24 "" esv1291594 14 28101068 28101068 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357730 S 2 1 0 "" HuRef nsv832757 14 28113969 28267903 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450909,nssv1450908,nssv1450910 M 95 3 0 "" nsv521687 14 28185867 28187993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698307 S 2026 0 1 "" esv28380 14 28196788 28197783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11952 S 451 0 1 "" NA12828 nsv515834 14 28202628 28209397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680573,nssv664944,nssv691644,nssv682799 M 2026 0 4 "" nsv901574 14 28259525 28282369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564046,nssv1601128 M 6533 0 2 "" IS30147,IS41971 dgv1868n71 14 28259525 28326903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901575,nsv901577,nsv901576 M 6533 0 3 C14orf23,FOXG1 IS35572,IS35789,MS20710 nsv525536 14 28294584 28300611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701671 S 2026 1 0 "" nsv528509 14 28294584 28300611 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705116 S 2026 0 1 "" nsv520282 14 28294584 28313472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697324 S 2026 0 1 C14orf23,FOXG1 nsv1227 14 28306805 28340584 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9180 S 9 1 0 C14orf23,FOXG1 NA12156 nsv826911 14 28308054 28308540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439952 S 31 1 0 FOXG1 NA18537 esv33594 14 28356799 28359803 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98935 S 51 0 1 "" 21606 esv2600131 14 28400677 28402166 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264334 S 1 0 1 "" NA18507 esv2062785 14 28499257 28499774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935788 S 1 0 1 "" NA18507 nsv510373 14 28622311 28628311 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622247,nssv621412,nssv618399,nssv624159 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv456194 14 28688518 28735220 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533564 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01238 nsv521529 14 28792243 28825619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698146 S 2026 0 1 "" esv2467200 14 28797118 28798937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163794 S 1 0 1 "" NA18507 nsv512354 14 28797333 28798764 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624939 S 1 0 1 "" 1 esv2043070 14 28797619 28798741 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785170 S 1 0 1 "" NA18507 esv2769 14 28797766 28798623 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25210 S 1 0 1 Single Asian sample YH "" YH esv9541 14 28797801 28798566 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31982 S 1 0 1 "" SJK nsv832760 14 28838878 29012596 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450911 S 95 1 0 "" nsv901578 14 28841936 29039352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546227 S 6533 0 1 "" MS17114 nsv85030 14 28867389 28867460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103608 M 24 "" nsv901579 14 29062254 29132953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564152 S 6533 0 1 PRKD1 IS30171 nsv1228 14 29063788 29108846 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9181 S 9 0 1 "" NA12156 nsv85477 14 29065757 29065757 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104055 M 24 "" esv270622 14 29114048 29114133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519132 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv518869 14 29219275 29270280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696325 S 2026 0 1 PRKD1 esv1921382 14 29239740 29240158 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520925 S 1 0 1 PRKD1 NA18507 esv1587594 14 29365656 29365712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719327 S 2 0 1 PRKD1 HuRef nsv832761 14 29367941 29493918 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450912 S 95 0 1 PRKD1 nsv456195 14 29404718 29472513 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533565 S 1557 0 1 PRKD1 NINDS_123 nsv518206 14 29409562 29412569 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695630 S 2026 0 1 PRKD1 esv1003783 14 29592465 29597220 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565045 S 3 1 0 "" HuRef esv2110623 14 29628267 29628668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715162 S 1 0 1 "" NA18507 esv4477 14 29628338 29628572 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26918 S 1 0 1 Single Asian sample YH "" YH esv1224813 14 29628453 29628551 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689753 S 2 0 1 "" HuRef esv269433 14 29671596 29671959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509920,essv2509242,essv2501234,essv2506660,essv2499039,essv2509647,essv2493524,essv2499690,essv2501994,essv2498133 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18909,NA19093,NA19108,NA19114,NA19129,NA19137,NA19225,NA19239,NA19240 esv274267 14 29671600 29671956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580068,essv2580451,essv2580014,essv2579512 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19240 nsv510374 14 29721893 29727893 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618400 S 4 0 1 "" CHM nsv437795 14 29742967 29745910 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467676 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv9609 14 29807001 29807065 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32050 S 1 1 0 "" SJK nsv1229 14 29819732 29843769 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4105 S 9 1 0 "" NA12878 nsv517611 14 29861914 29871804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652506,nssv680854,nssv671344 M 2026 0 3 "" esv33189 14 29869974 30981496 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98740,essv99836 M 51 0 2 AP4S1,COCH,G2E3,HEATR5A,HECTD1,LOC100506071,MIR624,SCFD1,STRN3 21606,22086 nsv901580 14 29880418 29984418 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595111 S 6533 1 0 "" IS40111 esv29769 14 29887045 29889176 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17898 S 451 0 2 "" NA11894,NA11995 esv270704 14 29924379 29925630 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495439,essv2504448,essv2502303,essv2512458,essv2502845,essv2504707,essv2503894 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11919,NA11993,NA12004,NA12043,NA12892,NA19099 esv272195 14 29924391 29925674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579342 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv526776 14 29966225 29975382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703128 S 2026 0 1 "" nsv522128 14 30024969 30026852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694902 S 2026 0 1 "" nsv901581 14 30048496 30655040 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595112 S 6533 1 0 AP4S1,COCH,G2E3,HECTD1,LOC100506071,MIR624,SCFD1,STRN3 IS40111 esv996912 14 30055664 30056605 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564056 S 3 0 1 "" HuRef esv4445 14 30056224 30056608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26886 S 1 0 1 Single Asian sample YH "" YH esv2125800 14 30141099 30141550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840903 S 1 0 1 G2E3 NA18507 nsv84475 14 30164573 30164573 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103053 M 24 SCFD1 nsv84774 14 30164681 30164681 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103352 M 24 SCFD1 nsv1230 14 30219580 30231506 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2914 S 9 1 0 SCFD1 NA18555 nsv509529 14 30220413 30244372 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623661 S 4 1 0 SCFD1 NA18994 esv269610 14 30220537 30220622 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517418,essv2515433 M 157 2 0 Samples from several populations that are part of the HapMap project. SCFD1 NA11918,NA12249 esv269681 14 30250986 30251351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503348,essv2508252,essv2500087,essv2507644,essv2511629,essv2493053,essv2497420,essv2503716,essv2495993,essv2495217,essv2512801 M 157 11 0 Samples from several populations that are part of the HapMap project. SCFD1 NA18542,NA18561,NA18573,NA18576,NA18940,NA18951,NA18959,NA18960,NA18961,NA18964,NA18980 esv1928439 14 30252139 30252571 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509032 S 1 0 1 SCFD1 NA18507 nsv519208 14 30292044 30294776 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696697 S 2026 1 0 "" esv2492726 14 30302964 30304481 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380731 S 1 0 1 "" NA18507 nsv832762 14 30308385 30483789 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450913 S 95 0 1 COCH,LOC100506071,STRN3 nsv901582 14 30312602 30387385 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599024 S 6533 1 0 "" IS41068 esv2530869 14 30332253 30333685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390083 S 1 0 1 "" NA18507 esv2373186 14 30332552 30333241 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515344 S 1 0 1 "" NA18507 esv3039 14 30332706 30333202 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25480 S 1 0 1 Single Asian sample YH "" YH esv9243 14 30332742 30333073 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31684 S 1 0 1 "" SJK esv1534506 14 30332751 30333081 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238451 S 2 0 1 "" HuRef nsv507739 14 30344347 30350347 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623164,nssv619125,nssv620557,nssv617879 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv901583 14 30369634 30405354 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577155 S 6533 1 0 "" IS34374 nsv524779 14 30402480 30405354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700770 S 2026 0 1 "" nsv901584 14 30428128 30478761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570015 S 6533 0 1 COCH,LOC100506071,STRN3 IS31765 nsv901585 14 30435635 30503224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579873 S 6533 0 1 STRN3 IS35181 nsv901586 14 30435635 30534992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578769 S 6533 0 1 STRN3 IS34896 nsv456197 14 30456177 30487567 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533566 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STRN3 HGDP01249 nsv85534 14 30466913 30468911 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104112 M 24 STRN3 nsv1231 14 30494353 30514472 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9182 S 9 0 1 STRN3 NA12156 esv270846 14 30514013 30514361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514643,essv2516811,essv2519246,essv2517435,essv2514036,essv2518810,essv2514714,essv2518452,essv2515705,essv2516039,essv2514239,essv2517796,essv2517283,essv2513609 M 157 14 0 Samples from several populations that are part of the HapMap project. STRN3 NA07347,NA11840,NA11881,NA11894,NA11918,NA12043,NA12045,NA12234,NA12287,NA12815,NA12873,NA12874,NA12878,NA18970 esv273676 14 30514013 30514361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581507 S 7 1 0 Samples from several populations that are part of the HapMap project. STRN3 NA12878 nsv1233 14 30562756 30574026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2915 S 9 1 0 AP4S1,STRN3 NA18555 nsv901587 14 30571256 30822415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585742 S 6533 0 1 AP4S1,HECTD1 IS37639 nsv832763 14 30571348 30749772 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450914 S 95 0 1 AP4S1,HECTD1 nsv901588 14 30665417 30708862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499460,nssv1499589 M 6533 0 2 HECTD1 SP50025,SP50120 nsv1234 14 30667888 30701839 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2916 S 9 1 0 HECTD1 NA18555 esv1422195 14 30815720 30815720 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166256 S 2 1 0 "" HuRef nsv7250 14 30829354 30856268 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9504 S 9 0 0 HEATR5A NA18507 nsv901589 14 30837982 31014474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556295 S 6533 1 0 C14orf126,HEATR5A MS21891 nsv499776 14 30855718 30870074 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585508 S 9 0 0 HEATR5A esv2491965 14 30882928 30884339 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360051 S 1 0 1 HEATR5A NA18507 esv2241940 14 30883469 30884000 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798281 S 1 0 1 HEATR5A NA18507 esv3615 14 30883592 30883877 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26056 S 1 0 1 Single Asian sample YH HEATR5A YH esv991558 14 30883627 30883800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582360 S 3 0 1 HEATR5A HuRef nsv84542 14 30883628 30883801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103120 M 24 HEATR5A esv1624128 14 30883629 30883803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882727 S 2 0 1 HEATR5A HuRef nsv456198 14 30989479 31042040 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533567 S 1557 0 1 C14orf126,GPR33 NINDS_132 esv2398781 14 31012589 31013273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659184 S 1 0 1 "" NA18507 esv5100 14 31012695 31013156 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27541 S 1 0 1 Single Asian sample YH "" YH nsv85102 14 31012747 31013071 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103680 M 24 "" nsv518956 14 31028512 31053122 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694292 S 2026 0 1 "" nsv901590 14 31028512 31082344 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557313 S 6533 1 0 "" MS22601 nsv522359 14 31041848 31042040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695140 S 2026 0 1 "" nsv901591 14 31163299 31272428 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592687 S 6533 1 0 NUBPL IS39243 nsv901592 14 31163299 31337074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568475 S 6533 0 1 NUBPL IS31286 nsv456199 14 31253600 31311624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533568 S 1557 0 1 NUBPL 1780862598_A nsv521541 14 31283103 31292992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698157 S 2026 0 1 NUBPL nsv520783 14 31311624 31312498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684019,nssv684250,nssv675386 M 2026 0 3 NUBPL dgv130n21 14 31311624 31337074 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521631,nsv524652 M 2026 0 2 NUBPL esv8132 14 31327806 31327875 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30573 S 1 1 0 NUBPL SJK nsv85392 14 31339632 31344871 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103970 M 24 NUBPL nsv901593 14 31352315 31420122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533383 S 6533 1 0 NUBPL MS11137 esv271124 14 31374684 31374823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494263,essv2506112 M 157 2 0 Samples from several populations that are part of the HapMap project. NUBPL NA18502,NA18523 nsv526200 14 31378262 31524123 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702463 S 2026 1 0 NUBPL esv24653 14 31433399 31433914 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15076 S 451 0 1 "" NA12414 nsv519917 14 31433731 31445110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687024,nssv659468 M 2026 0 2 "" nsv84760 14 31470659 31470659 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103338 M 24 "" nsv519032 14 31489939 31490073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696501 S 2026 0 1 "" nsv523667 14 31494980 31524123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699469 S 2026 0 1 "" esv5553 14 31500863 31500939 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27994 S 1 1 0 "" SJK esv2645448 14 31532212 31533304 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346894 S 1 1 0 "" NA18507 nsv832764 14 31634219 31792964 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450915 S 95 1 0 ARHGAP5 esv1430528 14 31738984 31738984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794881 S 2 1 0 "" HuRef nsv85747 14 31738985 31738985 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104325 M 24 "" nsv826912 14 31740590 31741034 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439953,nssv1424544 M 31 2 0 "" NA18537,NA18582 nsv85243 14 31756276 31756276 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103821 M 24 "" nsv901594 14 31842601 31856019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502665 S 6533 1 0 "" SP51309 dgv615e1 14 31928231 32086193 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20263,essv9177,essv16725,essv20046,esv251 M 271 0 0 AKAP6 NA07048,NA12144,NA19128,NA19142 nsv901595 14 31998385 32031185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541549 S 6533 0 1 AKAP6 MS15364 esv1006050 14 32019805 32028105 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564839 S 3 0 1 AKAP6 HuRef nsv9130 14 32021695 32028531 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21484,nssv21106,nssv23659,nssv23951,nssv21290,nssv26703,nssv20784,nssv19732,nssv19541,nssv21033,nssv21945,nssv24684,nssv21917,nssv22824,nssv24810,nssv24670,nssv21959 M 31 0 17 Samples from several populations that are part of the HapMap project. AKAP6 NA07048,NA10839,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18853,NA18942,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 esv2527143 14 32021975 32027806 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323166 S 1 0 1 AKAP6 NA18507 nsv512355 14 32023014 32024273 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624940 S 1 0 1 AKAP6 1 nsv1235 14 32056278 32081275 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9183 S 9 0 1 AKAP6 NA12156 nsv826913 14 32176582 32177280 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423735 S 31 0 1 AKAP6 NA18999 esv24421 14 32199528 32200486 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16083 S 451 1 0 AKAP6 NA12156 nsv832765 14 32257921 32437099 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450918,nssv1450916 M 95 1 1 AKAP6 esv269549 14 32323919 32324260 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540153,essv2557556,essv2532219,essv2561692,essv2544633,essv2562860,essv2553036,essv2534858,essv2539540,essv2519620,essv2541698,essv2553201,essv2535895,essv2543442,essv2533922,essv2572957,essv2566460,essv2573795,essv2527714,essv2577000,essv2538736,essv2524149,essv2574719,essv2551587 M 157 24 0 Samples from several populations that are part of the HapMap project. AKAP6 NA18489,NA18499,NA18505,NA18523,NA18526,NA18532,NA18542,NA18561,NA18563,NA18566,NA18592,NA18605,NA18608,NA18870,NA18916,NA18942,NA18948,NA18951,NA18952,NA18970,NA19108,NA19129,NA19138,NA19257 nsv524649 14 32368121 32368179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700615 S 2026 0 1 AKAP6 esv988432 14 32379897 32385625 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586126 S 3 0 1 "" HuRef esv24894 14 32380069 32381336 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16907 S 451 1 0 "" NA18858 esv1524646 14 32381817 32381817 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137614 S 2 1 0 "" HuRef nsv507740 14 32431403 32437403 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617880 S 4 1 0 "" CHM esv1396772 14 32438109 32438109 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695202 S 2 1 0 "" HuRef nsv819712 14 32455279 32462720 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419826 S 2 1 0 "" AK1 esv33091 14 32461533 32461728 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100827 S 51 1 0 "" 21656 esv33365 14 32472690 32473813 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98714,essv100036 M 51 2 0 "" 21606,22086 esv2536795 14 32505056 32506548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263264 S 1 0 1 NPAS3 NA18507 esv2131914 14 32505336 32505965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968893 S 1 0 1 NPAS3 NA18507 esv1461660 14 32505551 32505774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749369 S 2 0 1 NPAS3 HuRef nsv526902 14 32611575 32616017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703262 S 2026 0 1 NPAS3 nsv85863 14 32616747 32618283 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104441 M 24 NPAS3 esv28966 14 32640529 32641129 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9849 S 451 1 0 NPAS3 NA12156 nsv519095 14 32672711 32715773 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696569 S 2026 1 0 NPAS3 dgv1869n71 14 32723153 32750782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901597,nsv901598,nsv901596 M 6533 0 17 NPAS3 MS10109,MS10228,MS10430,MS11726,MS13143,MS13154,MS17809,MS17883,MS18255,MS18454,MS20830,MS20843,MS22742,MS23120,MS25868,MS26049,SP55642 esv29451 14 32876669 32877771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14741 S 451 0 1 NPAS3 NA18909 esv275082 14 32879970 32882986 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585213,essv2585439 M 1250 1 1 NPAS3 nsv516217 14 32892459 32899071 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668290,nssv684067,nssv658536,nssv663238,nssv703567,nssv660075,nssv659740,nssv666871,nssv698534,nssv701483 M 2026 7 3 NPAS3 esv34178 14 32905671 33260245 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 NPAS3 nsv832766 14 32940316 33082160 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450919 S 95 0 1 NPAS3 nsv832767 14 32994149 33182917 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450920 S 95 1 0 NPAS3 nsv456201 14 32999961 33103838 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533569 S 1557 1 0 NPAS3 1780862457_A esv26657 14 33011510 33012296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19131 S 451 0 1 NPAS3 NA18523 esv271699 14 33015976 33016097 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510137,essv2511223,essv2500187,essv2512260,essv2502522 M 157 5 0 Samples from several populations that are part of the HapMap project. NPAS3 NA11829,NA11931,NA12006,NA12155,NA12750 esv273707 14 33055007 33055371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578929,essv2579457 M 7 2 0 Samples from several populations that are part of the HapMap project. NPAS3 NA19239,NA19240 esv2268114 14 33082730 33083157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855453 S 1 0 1 NPAS3 NA18507 nsv456202 14 33124694 33150659 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533570 S 1557 0 1 NPAS3 1782681093_A esv268210 14 33125174 33125508 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521382,essv2525852,essv2576208,essv2530719,essv2561777,essv2557128,essv2532176,essv2578599,essv2550149,essv2569920,essv2569051,essv2527901,essv2534013,essv2560694,essv2568652,essv2545783,essv2574237 M 157 17 0 Samples from several populations that are part of the HapMap project. NPAS3 NA11894,NA11918,NA12814,NA12873,NA12874,NA18501,NA18505,NA18510,NA18511,NA18593,NA18861,NA18907,NA18916,NA19116,NA19147,NA19239,NA19240 esv272661 14 33125174 33125516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579884 S 7 1 0 Samples from several populations that are part of the HapMap project. NPAS3 NA12892 nsv524579 14 33153401 33154087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700535 S 2026 0 1 NPAS3 nsv509530 14 33207817 33211866 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620999 S 4 1 0 NPAS3 NA15510 esv274324 14 33209858 33215926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584440,essv2583482 M 7 2 0 Samples from several populations that are part of the HapMap project. NPAS3 NA19239,NA19240 nsv507741 14 33226915 33232915 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619126 S 4 1 0 NPAS3 NA10860 nsv515964 14 33236861 33238158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665491,nssv659417 M 2026 2 0 NPAS3 esv34070 14 33302523 33699354 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 EGLN3,NPAS3 esv2638392 14 33359037 33360660 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337614 S 1 0 1 "" NA18507 dgv11e194 14 33359591 33360354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1997074,esv2162331 M 1 0 1 "" NA18507 esv3801 14 33359756 33360284 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26242 S 1 0 1 Single Asian sample YH "" YH esv1011282 14 33359786 33360124 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572747 S 3 0 1 "" HuRef esv1190583 14 33359799 33360138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105022 S 2 0 1 "" HuRef nsv84698 14 33359800 33360138 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103276 M 24 "" esv6384 14 33359802 33360123 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28825 S 1 0 1 "" SJK nsv832768 14 33426226 33621653 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450921 S 95 1 0 EGLN3 esv2430898 14 33428662 33430218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362050 S 1 0 1 "" NA18507 nsv832769 14 33466497 33653496 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450922 S 95 0 1 EGLN3 nsv826914 14 33498471 33501203 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426106 S 31 1 0 "" AK4 nsv85160 14 33517076 33517146 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103738 M 24 "" esv2177417 14 33541839 33542239 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862514 S 1 0 1 "" NA18507 esv34180 14 33550265 33908046 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv521678 14 33554863 33556490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698297 S 2026 0 1 "" esv271591 14 33563072 33563401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557933,essv2521143,essv2536513,essv2568336,essv2570613,essv2521557,essv2576533,essv2550634,essv2525218,essv2550494,essv2535452,essv2544243,essv2520426,essv2577981,essv2565288,essv2537228,essv2528634,essv2546845,essv2550067,essv2539221,essv2527190,essv2540364,essv2532916,essv2559145,essv2556178,essv2562274,essv2573270,essv2555927,essv2534249,essv2529808,essv2575555,essv2548972,essv2533177,essv2554467,essv2524948 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07357,NA10851,NA11894,NA11920,NA11995,NA12044,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12414,NA12716,NA12761,NA12812,NA12878,NA12891,NA12892,NA18511,NA18519,NA18522,NA18552,NA18576,NA18638,NA18871,NA18909,NA18942,NA18956,NA18959,NA19093,NA19099 esv272504 14 33563072 33563401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582096,essv2582672,essv2582798 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2508619 14 33583381 33585177 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261172 S 1 0 1 "" NA18507 esv2269726 14 33583590 33584792 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639259 S 1 0 1 "" NA18507 esv8087 14 33583777 33584585 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30528 S 1 0 1 "" SJK esv29454 14 33583803 33584597 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19227 S 451 0 1 "" NA18508 esv2546921 14 33585929 33586661 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347215 S 1 1 0 "" NA18507 esv268113 14 33651607 33651692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514981 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv271806 14 33674790 33674875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515743 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv85225 14 33697690 33697690 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103803 M 24 "" esv1677315 14 33744748 33744748 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018707 S 2 1 0 "" HuRef nsv1236 14 33777913 33811602 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1185 S 9 1 0 "" NA19240 esv26462 14 33785268 33787225 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19820 S 451 0 2 "" NA18861,NA19114 esv33419 14 33803525 33804971 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98711 S 51 0 1 "" 21606 nsv528989 14 33814177 34068456 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705690 S 2026 1 0 EAPP,SPTSSA nsv901599 14 33861830 33898489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563632 S 6533 0 1 "" MS26140 esv1052218 14 33889090 33889150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768309 S 2 0 1 "" HuRef nsv510375 14 33934016 33940016 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618401 S 4 0 1 "" CHM nsv901600 14 33965728 34079792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562874,nssv1539563 M 6533 2 0 EAPP,SPTSSA MS14361,MS25756 esv268905 14 34022199 34022537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516963,essv2515008,essv2516109,essv2514428,essv2519019,essv2513804,essv2518294 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12812,NA12873,NA12874,NA19141,NA19143,NA19240 esv273646 14 34022199 34022537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581159 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv85754 14 34022237 34025545 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104332 M 24 "" nsv7251 14 34041445 34128539 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5496,nssv10918,nssv10917 M 9 0 0 EAPP,SNX6 NA15510,NA19129 nsv92 14 34052865 34089598 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv92 S 1 0 0 EAPP NA15510 nsv9131 14 34063717 34072586 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20856 S 31 0 1 Samples from several populations that are part of the HapMap project. EAPP NA10863 esv1007795 14 34078526 34103208 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564405 S 3 0 0 EAPP,SNX6 HuRef nsv9132 14 34086257 34089491 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21514 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv499102 14 34086814 34101228 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585510 S 9 0 0 SNX6 nsv521229 14 34088925 34089518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697858 S 2026 0 1 "" dgv131n21 14 34088925 34091641 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517067,nsv517879,nsv520900 M 2026 0 4 "" nsv93 14 34093941 34123234 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv93 S 1 0 0 SNX6 NA15510 nsv523334 14 34144773 34201613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699080 S 2026 0 1 SNX6 esv1132950 14 34170116 34171121 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633549 S 2 0 1 "" HuRef nsv1237 14 34170953 34199297 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5497 S 9 0 1 "" NA19129 nsv901601 14 34171536 34201613 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503265 S 6533 1 0 "" SP52019 nsv433275 14 34178637 34189727 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463156 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv9133 14 34181692 34195370 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23717,nssv21989,nssv24710 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA19173 esv26579 14 34184388 34192269 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15319 S 451 0 4 "" NA18505,NA18517,NA19099,NA19129 nsv436187 14 34184561 34192732 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466759 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498826 14 34184837 34192013 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585687 S 9 0 1 "" nsv514737 14 34184976 34189200 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628205 S 1414 0 1 "" esv2421955 14 34185839 34189727 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5126911,essv5040534,essv5098834,essv5025069,essv5072852,essv5080514,essv5086879,essv5112149,essv5088373,essv5087842,essv5022655,essv5037945,essv5148971,essv5068674,essv5040526,essv5064220,essv5119469,essv5052973,essv5036385,essv5054057,essv5049524,essv5111642,essv5084825,essv5077660,essv5037503,essv5119850,essv5158174,essv5096684,essv5137614,essv5046456,essv5134595,essv5070962,essv5109646,essv5055126,essv5006757,essv5125082,essv5041642,essv5126534,essv5064340,essv5093831,essv5032041,essv5068796,essv5035967,essv5101540,essv5111719,essv5035018,essv5158388,essv5095626,essv5004511,essv5071391,essv5059544,essv5046260,essv5104550,essv5147537,essv5076868,essv5079838,essv5131924,essv5140762,essv5134539,essv5050646,essv5116131,essv5008596,essv5070653,essv5061571,essv5044428,essv5069905,essv5037532,essv5038063,essv5017124,essv5043813 M 1184 0 70 "" NA18484,NA18486,NA18488,NA18503,NA18504,NA18505,NA18517,NA18910,NA18911,NA18933,NA18935,NA19095,NA19099,NA19101,NA19113,NA19117,NA19119,NA19127,NA19128,NA19129,NA19140,NA19143,NA19171,NA19173,NA19174,NA19189,NA19191,NA19247,NA19249,NA19256,NA19310,NA19328,NA19350,NA19371,NA19372,NA19376,NA19381,NA19382,NA19384,NA19430,NA19446,NA19469,NA19625,NA19700,NA19702,NA19712,NA19901,NA19908,NA20126,NA20276,NA20277,NA20279,NA20282,NA20289,NA20290,NA20297,NA20301,NA20319,NA20332,NA20333,NA20341,NA20343,NA20345,NA20348,NA20363,NA21441,NA21475,NA21489,NA21490,NA21768 nsv817625 14 34186040 34189727 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416128,nssv1416496,nssv1416596,nssv1418209,nssv1416595 M 112 0 5 "" NA18517,NA19140,NA19143,NA19171,NA19173 nsv516595 14 34186040 34201613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686945,nssv653820,nssv686218,nssv655584,nssv670041,nssv653595,nssv667563,nssv662589,nssv683641,nssv686833,nssv663470,nssv679399,nssv686337,nssv668809,nssv686490,nssv656351,nssv666416,nssv674249,nssv673784,nssv684993,nssv685870,nssv660889,nssv663124,nssv689332,nssv672809,nssv662139,nssv691472,nssv689037,nssv658123,nssv689212,nssv678269,nssv665665,nssv658711,nssv677571,nssv687722,nssv684905,nssv680698,nssv669656,nssv659418,nssv663518,nssv686865,nssv686864,nssv665221,nssv682741,nssv683777,nssv683208,nssv686705,nssv685091,nssv671119,nssv663883,nssv681328,nssv680065,nssv667519,nssv684272,nssv704265,nssv669962,nssv669238,nssv679873,nssv675281,nssv693931,nssv678092,nssv687321,nssv655300,nssv677526,nssv685200,nssv689573,nssv669501,nssv675897,nssv670508,nssv673584,nssv682591,nssv678066,nssv652774,nssv667341,nssv654951,nssv693374,nssv674971,nssv682343,nssv667120,nssv678788,nssv672917,nssv681371,nssv673393,nssv689748,nssv679854,nssv658931,nssv652595,nssv667084,nssv664945,nssv652552,nssv668666,nssv676736,nssv687259 M 2026 0 93 "" nsv438260 14 34187519 34189727 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470621,nssv470622 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18503,NA19171 nsv1238 14 34287098 34350816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4106,nssv2917 M 9 2 0 BAZ1A NA12878,NA18555 nsv517328 14 34299431 34304645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681687,nssv672105,nssv651728,nssv692647,nssv663057 M 2026 0 5 BAZ1A nsv523492 14 34299431 34312579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699261 S 2026 0 1 BAZ1A esv268455 14 34318353 34318438 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513809 S 157 1 0 Samples from several populations that are part of the HapMap project. BAZ1A NA19143 esv2506134 14 34374421 34375815 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168671 S 1 0 1 BAZ1A NA18507 esv2382959 14 34374892 34375557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800386 S 1 0 1 BAZ1A NA18507 esv4428 14 34374996 34375426 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26869 S 1 0 1 Single Asian sample YH BAZ1A YH nsv85433 14 34375042 34375372 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104011 M 24 BAZ1A esv2441860 14 34375048 34375378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260434 S 1 0 1 BAZ1A NA18507 esv6430 14 34375052 34375371 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28871 S 1 0 1 BAZ1A SJK nsv85205 14 34399507 34405444 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103783 M 24 BAZ1A dgv369n67 14 34413570 34414229 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826916,nsv826915 M 31 3 0 BAZ1A AK14,AK16,AK18 esv1006744 14 34413570 34414229 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586901 S 3 0 1 BAZ1A HuRef esv27242 14 34432658 34444440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20720 S 451 0 1 "" NA19114 nsv901602 14 34437640 34641402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581862,nssv1568972,nssv1559007 M 6533 0 3 C14orf19,FAM177A1,PPP2R3C,SRP54 IS31373,IS35742,MS23670 nsv901603 14 34441448 34505402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545533 S 6533 0 1 C14orf19 MS16824 dgv1870n71 14 34450888 34582086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901605,nsv901604 M 6533 0 3 C14orf19,SRP54 IS31419,IS32167,IS33196 esv1927452 14 34468483 34468884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802240 S 1 0 1 "" NA18507 esv1007905 14 34468614 34468701 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584026 S 3 0 1 "" HuRef esv1311866 14 34468628 34468716 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688699 S 2 0 1 "" HuRef esv2643760 14 34470544 34471916 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235457 S 1 0 1 "" NA18507 esv1998467 14 34471083 34471664 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890137 S 1 0 1 "" NA18507 esv1010609 14 34471155 34471475 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583646 S 3 0 1 "" HuRef esv1208867 14 34471164 34471485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630680 S 2 0 1 "" HuRef nsv9134 14 34498536 34502644 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21999,nssv19475 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA12740 esv22755 14 34498571 34500965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19507,esv19270 M 451 0 5 "" NA07037,NA11993,NA12239,NA12287,NA12489 nsv901606 14 34519218 34582086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584650 S 6533 0 1 SRP54 IS37103 nsv901607 14 34519218 34610515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591934 S 6533 0 1 FAM177A1,SRP54 IS39100 dgv1871n71 14 34519218 34657518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901608,nsv901613,nsv901609 M 6533 0 12 FAM177A1,PPP2R3C,SRP54 IS30539,IS30683,IS31294,IS31335,IS31563,IS31706,IS31728,IS31837,IS34645,IS35027,IS35236,IS35271 nsv901610 14 34539800 34579322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509474 S 6533 0 1 SRP54 SP54792 nsv901611 14 34539800 34610515 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576009 S 6533 1 0 FAM177A1,SRP54 IS33857 nsv901612 14 34539800 34641402 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577685,nssv1566869,nssv1570351,nssv1568227,nssv1574130 M 6533 1 4 FAM177A1,PPP2R3C,SRP54 IS30967,IS31218,IS31904,IS33514,IS34523 esv993561 14 34543992 34558595 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565087 S 3 0 0 SRP54 HuRef esv1401960 14 34546623 34546623 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879966 S 2 1 0 SRP54 HuRef nsv1239 14 34547408 34592738 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2069 S 9 0 1 FAM177A1,SRP54 NA18555 esv1009559 14 34553571 34554627 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565734 S 3 1 0 SRP54 HuRef nsv901614 14 34555499 34641402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576130,nssv1587858 M 6533 0 2 FAM177A1,PPP2R3C,SRP54 IS33879,IS38123 nsv901615 14 34555499 34699926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575734 S 6533 0 1 FAM177A1,KIAA0391,PPP2R3C,SRP54 IS33797 nsv84314 14 34577467 34579273 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102892 M 24 "" esv1766547 14 34578207 34578615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086176 S 2 0 1 "" HuRef esv2515788 14 34619935 34621554 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274606 S 1 0 1 FAM177A1 NA18507 nsv1240 14 34668778 34695112 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2070 S 9 0 1 KIAA0391 NA18555 dgv370n67 14 34675160 34684010 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826917,nsv826918 M 31 0 22 KIAA0391 AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18947,NA18951,NA18968,NA18973,NA18997,NA18999 esv24640 14 34675291 34684292 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15328 S 451 0 6 KIAA0391 NA11993,NA12044,NA12287,NA12828,NA19108,NA19225 nsv498827 14 34675365 34684834 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585688 S 9 0 1 KIAA0391 nsv819579 14 34675506 34684479 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418562 S 2 0 1 KIAA0391 AK1 nsv514738 14 34675760 34683868 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628206 S 1414 0 1 KIAA0391 esv2421627 14 34675767 34681276 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129991,essv5037816,essv5032229,essv5100530,essv5047028,essv5041052,essv5076062,essv5144443,essv5033832,essv5149974,essv5081361,essv5004322,essv5099571,essv5045541,essv5100370,essv5036438,essv5040115,essv5152547,essv5130796,essv5139777,essv5140959,essv5088739,essv5005250,essv5145805,essv5009340,essv5155976,essv5040723,essv5020543,essv5016118,essv5156523,essv5054343,essv5111179,essv5118761,essv5007017,essv5143316,essv5008706,essv5098016,essv5074964,essv5016475,essv5159538,essv5072111,essv5012336,essv5114157,essv5004850,essv5029111,essv5134300,essv5029473,essv5066593,essv5139428,essv5084670,essv5022196,essv5014718,essv5065253,essv5015132,essv5155339,essv5147795,essv5128807,essv5079014,essv5113875,essv5030594,essv5094089,essv5041267,essv5013953,essv5138350,essv5092578,essv5130312,essv5115703,essv5044773,essv5152993,essv5110366,essv5155504,essv5035936,essv5099438,essv5050677,essv5025088,essv5045056,essv5056454,essv5057129,essv5046963,essv5070273,essv5017720,essv5024127,essv5129518,essv5056599,essv5059282,essv5038953,essv5132834,essv5155762,essv5050132,essv5011888,essv5060057,essv5104252,essv5060901,essv5009447,essv5032610,essv5102484,essv5069864,essv5024855,essv5007825,essv5126484,essv5115661,essv5031313,essv5100139,essv5051732,essv5101476,essv5046723,essv5100695,essv5109440,essv5080146,essv5098362,essv5116142,essv5150203,essv5041529,essv5096106,essv5137098,essv5088699,essv5002768,essv5087450,essv5073434,essv5069074,essv5032995,essv5038732,essv5122058,essv5120278,essv5050229,essv5054142,essv5108625,essv5041450,essv5017730,essv5070327,essv5028420,essv5010008,essv5003702,essv5117618,essv5022949,essv5088697,essv5023646,essv5065242,essv5109631,essv5129790,essv5145761,essv5137242,essv5144686,essv5056726,essv5085173,essv5146473,essv5074797,essv5146306,essv5114611,essv5128621,essv5044738,essv5048851,essv5035551,essv5157392,essv5018752,essv5087091,essv5016458,essv5033132,essv5159444,essv5098064,essv5154852,essv5134021,essv5076219,essv5027890,essv5034380,essv5133919,essv5121395,essv5054268,essv5060822,essv5112818,essv5140920,essv5020109,essv5007273,essv5158261,essv5011670,essv5139662,essv5006108,essv5132174,essv5146167,essv5092236,essv5145141,essv5097818,essv5116105,essv5152307,essv5062373,essv5149052,essv5018923,essv5138451,essv5012830,essv5019504,essv5127558,essv5141247,essv5044502,essv5110496,essv5009545,essv5159607,essv5060102,essv5024328,essv5055903,essv5041540,essv5081073,essv5150392,essv5077593,essv5046625,essv5137537,essv5149585,essv5071933,essv5124675,essv5139776,essv5036902,essv5152380,essv5073341,essv5032952,essv5027358,essv5003103,essv5054115,essv5086134,essv5053197,essv5093463,essv5072183,essv5066473,essv5105097,essv5152807,essv5148165,essv5052558,essv5076514,essv5052068,essv5141783,essv5123508,essv5114877,essv5078891,essv5075316,essv5035545,essv5091672,essv5102181,essv5040213,essv5102237,essv5137946,essv5016064,essv5152895,essv5136792,essv5097703,essv5144209,essv5010942,essv5066276,essv5052243,essv5149272,essv5087122,essv5150572,essv5136454,essv5010726,essv5048287,essv5143549,essv5125569,essv5039244,essv5028393,essv5021831,essv5079438,essv5099923,essv5089057,essv5072174,essv5006093,essv5154938,essv5016936,essv5084525,essv5031945,essv5113878,essv5154941,essv5123215,essv5139358,essv5069712,essv5094648,essv5139372,essv5036014,essv5113228,essv5017598,essv5156128,essv5029528,essv5130264,essv5063625,essv5039590,essv5114063,essv5098748,essv5082953,essv5126689,essv5099198,essv5130920,essv5017418,essv5125962,essv5022431,essv5119454,essv5024744,essv5113000,essv5021583,essv5018113,essv5063037,essv5078471,essv5053901,essv5134462,essv5096198,essv5035989,essv5055644,essv5135408,essv5029714,essv5157900,essv5126956,essv5043852,essv5003964,essv5054306 M 1184 0 309 KIAA0391 NA06991,NA06993,NA07051,NA07055,NA10837,NA10845,NA10856,NA10863,NA11830,NA11917,NA11930,NA11992,NA11993,NA12044,NA12057,NA12264,NA12273,NA12282,NA12283,NA12286,NA12287,NA12376,NA12546,NA12752,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12778,NA12802,NA12814,NA12815,NA12817,NA12827,NA12828,NA12875,NA12877,NA12889,NA12890,NA17965,NA17967,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17980,NA17981,NA17987,NA17988,NA17990,NA17993,NA17996,NA17997,NA17998,NA17999,NA18101,NA18105,NA18106,NA18108,NA18109,NA18114,NA18117,NA18118,NA18120,NA18122,NA18125,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18140,NA18148,NA18149,NA18150,NA18151,NA18153,NA18158,NA18160,NA18161,NA18162,NA18166,NA18526,NA18529,NA18532,NA18534,NA18537,NA18543,NA18545,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18562,NA18563,NA18566,NA18570,NA18571,NA18573,NA18582,NA18592,NA18596,NA18599,NA18602,NA18605,NA18609,NA18610,NA18612,NA18615,NA18616,NA18618,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18634,NA18635,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18704,NA18740,NA18745,NA18748,NA18749,NA18757,NA18939,NA18943,NA18945,NA18947,NA18948,NA18951,NA18952,NA18953,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18971,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18990,NA18991,NA18993,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19007,NA19054,NA19055,NA19057,NA19058,NA19059,NA19062,NA19064,NA19070,NA19072,NA19074,NA19075,NA19083,NA19085,NA19086,NA19088,NA19108,NA19109,NA19224,NA19225,NA19393,NA19445,NA19625,NA19650,NA19651,NA19653,NA19657,NA19658,NA19659,NA19669,NA19670,NA19671,NA19681,NA19704,NA19705,NA19716,NA19719,NA19722,NA19747,NA19748,NA19761,NA19763,NA19773,NA19780,NA19783,NA19784,NA19789,NA19795,NA19796,NA19834,NA19908,NA19919,NA19921,NA20129,NA20281,NA20300,NA20344,NA20345,NA20349,NA20506,NA20508,NA20509,NA20515,NA20518,NA20524,NA20529,NA20531,NA20535,NA20539,NA20542,NA20586,NA20752,NA20758,NA20768,NA20769,NA20772,NA20774,NA20775,NA20790,NA20799,NA20809,NA20815,NA20816,NA20828,NA20851,NA20853,NA20854,NA20856,NA20859,NA20871,NA20874,NA20877,NA20879,NA20883,NA20884,NA20888,NA20895,NA20897,NA20899,NA20909,NA20911,NA21098,NA21099,NA21102,NA21104,NA21107,NA21109,NA21112,NA21116,NA21143,NA21363,NA21364,NA21379,NA21436,NA21473,NA21573,NA21582,NA21596,NA21614,NA21650,NA21825 esv24277 14 34772026 34772624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17574 S 451 0 3 KIAA0391 NA12489,NA18907,NA19240 nsv519458 14 34772608 34785162 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696864 S 2026 0 1 KIAA0391 nsv817626 14 34772608 34785162 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416007,nssv1416004 M 112 0 2 KIAA0391 NA12740,NA12751 nsv456205 14 34842691 34896121 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533571 S 1557 0 1 PSMA6 NINDS_62 nsv518090 14 34872234 34909992 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679493,nssv663816,nssv682258,nssv698473,nssv676846,nssv685661,nssv672759,nssv684687,nssv656204,nssv674743 M 2026 1 9 "" nsv528501 14 34895187 34910429 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705106 S 2026 0 1 "" nsv901616 14 34932155 34953429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510070 S 6533 0 1 NFKBIA SP54956 dgv1872n71 14 34941158 34944021 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901619,nsv901617 M 6533 0 2 NFKBIA SP54672,SP54988 nsv901618 14 34941158 34953429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508556 S 6533 0 1 NFKBIA SP54725 esv26998 14 34966912 34968665 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10562 S 451 0 1 "" NA18909 nsv826921 14 35000354 35006399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422925 S 31 0 1 "" NA18552 esv29225 14 35072359 35074528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17380 S 451 0 1 INSM2 NA12156 nsv901620 14 35082192 35268533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595005 S 6533 0 1 RALGAPA1 IS40067 nsv525294 14 35148467 35194086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701400 S 2026 0 1 RALGAPA1 nsv456206 14 35148467 35235169 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533572 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RALGAPA1 HGDP00475 dgv1873n71 14 35155497 35268533 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901622,nsv901621 M 6533 0 2 RALGAPA1 IS31213,IS33558 nsv901623 14 35163591 35311917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580142,nssv1578688 M 6533 0 2 RALGAPA1 IS34856,IS35229 dgv1874n71 14 35163591 35420895 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901624,nsv901625,nsv901626 M 6533 0 3 BRMS1L,RALGAPA1 IS31041,IS31137,MS19068 nsv901627 14 35163591 35487260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546228,nssv1569347 M 6533 0 2 BRMS1L,RALGAPA1 IS31563,MS17114 esv272125 14 35189871 35190226 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510727,essv2494128,essv2509839,essv2494761,essv2513370,essv2509156,essv2497370,essv2501275,essv2510509,essv2499678,essv2502135 M 157 11 0 Samples from several populations that are part of the HapMap project. RALGAPA1 NA18501,NA18502,NA18508,NA18519,NA18907,NA18909,NA18959,NA19093,NA19172,NA19225,NA19257 dgv1875n71 14 35189954 35299550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901628,nsv901629 M 6533 0 2 RALGAPA1 SP50649,SP57401 nsv901630 14 35210859 35280904 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513088 S 6533 0 1 RALGAPA1 SP55683 esv2549342 14 35220149 35221569 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182782 S 1 0 1 RALGAPA1 NA18507 nsv1241 14 35226404 35238933 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9300 S 9 1 0 RALGAPA1 NA18517 nsv901631 14 35330109 35463663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569418 S 6533 0 1 BRMS1L,RALGAPA1 IS31576 nsv507742 14 35330230 35336230 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620558,nssv623165 M 4 2 0 RALGAPA1 NA15510,NA18994 nsv84518 14 35374534 35374670 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103096 M 24 BRMS1L nsv470630 14 35441383 35500214 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547553 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 nsv456208 14 35457479 35500214 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533574 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 nsv1242 14 35469690 35520467 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2918,nssv1186 M 9 2 0 "" NA18555,NA19240 esv22454 14 35474806 35480156 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12060 S 451 0 1 "" NA19190 nsv509531 14 35480182 35496606 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619647 S 4 1 0 "" NA10860 nsv901632 14 35484978 35507569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503408 S 6533 0 1 "" SP52053 esv2546719 14 35486956 35489131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331778 S 1 0 1 "" NA18507 esv28994 14 35486985 35488876 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11646 S 451 1 21 "" NA11931,NA11993,NA12004,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190 esv993298 14 35487194 35489377 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565531 S 3 1 0 "" HuRef nsv85401 14 35487357 35487545 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103979 M 24 "" esv1716312 14 35487633 35487633 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932787 S 2 1 0 "" HuRef esv1768198 14 35516292 35516341 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217685 S 2 0 1 "" HuRef nsv819072 14 35519051 35522716 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419566 S 2 0 1 "" AK1 nsv525068 14 35523092 35549578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701122 S 2026 0 1 "" esv275227 14 35552239 35556829 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585446 S 1250 0 1 "" esv7179 14 35592482 35592578 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29620 S 1 1 0 "" SJK nsv528421 14 35603960 35605602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705013 S 2026 0 1 "" nsv819878 14 35654550 35660898 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419768 S 2 0 1 "" AK1 esv270442 14 35712506 35712834 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508060,essv2493244,essv2494768,essv2499914,essv2494406,essv2507694,essv2512905,essv2513306,essv2511630,essv2502490,essv2496976,essv2503934 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA12045,NA18504,NA18519,NA18562,NA18572,NA18576,NA18609,NA18907,NA18940,NA18948,NA19190 nsv901633 14 35716476 35794358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600703 S 6533 1 0 "" IS41918 esv2530135 14 35717047 35718158 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237145 S 1 1 0 "" NA18507 esv998011 14 35717687 35717687 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568812 S 3 1 0 "" HuRef nsv85090 14 35717794 35717794 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103668 M 24 "" nsv901634 14 35722441 35763970 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513165 S 6533 1 0 "" SP55692 esv2421942 14 35741777 35744785 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156647,essv5036640,essv5087242,essv5091563,essv5129711,essv5157940,essv5135414,essv5005398,essv5151771,essv5048987,essv5157153,essv5153759,essv5045927,essv5107016,essv5160186,essv5138117,essv5130641,essv5051062,essv5094703,essv5064768 M 1184 0 20 "" NA18853,NA18854,NA18913,NA18914,NA18916,NA19131,NA19132,NA19171,NA19173,NA19398,NA19431,NA19916,NA20317,NA21316,NA21318,NA21388,NA21389,NA21423,NA21448,NA21723 nsv442332 14 35741780 35744784 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv26016 14 35742037 35745090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14753 S 451 0 1 "" NA18916 esv268136 14 35744457 35745992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510119,essv2500871,essv2503206,essv2496636,essv2506752,essv2511429,essv2495293,essv2504416,essv2499374,essv2505132,essv2507944,essv2512459,essv2499417,essv2508076,essv2501686,essv2505569,essv2495334,essv2503384,essv2508584,essv2502588,essv2507781,essv2503795,essv2493459,essv2493386,essv2508858,essv2500268,essv2502814,essv2496732,essv2494280,essv2493318,essv2504087,essv2496199,essv2501213,essv2494875,essv2509125,essv2506203,essv2508761,essv2497299,essv2494611,essv2497242,essv2497777,essv2508296,essv2504586,essv2507920,essv2506321,essv2511307,essv2500649,essv2494498,essv2500124,essv2507668,essv2512701,essv2510013,essv2496060,essv2501618,essv2512895,essv2505374,essv2509241,essv2507428,essv2511665,essv2511092,essv2497942,essv2502420,essv2512309,essv2493027,essv2509394,essv2500579,essv2497376,essv2503731,essv2505684,essv2501335,essv2504670,essv2509520,essv2497565,essv2510423,essv2497097,essv2499822,essv2501966,essv2498249,essv2502075,essv2503651,essv2495789,essv2503899,essv2511487,essv2499502 M 157 84 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA11829,NA11830,NA11881,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12878,NA12891,NA12892,NA18498,NA18502,NA18504,NA18505,NA18511,NA18516,NA18520,NA18522,NA18523,NA18532,NA18545,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18593,NA18603,NA18608,NA18609,NA18853,NA18909,NA18912,NA18940,NA18944,NA18945,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA19005,NA19093,NA19099,NA19129,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv273496 14 35744466 35745559 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580798,essv2579717 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1042071 14 35744511 35744511 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979010 S 2 1 0 "" HuRef dgv83e55 14 35806100 35852700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34543,esv2751271 M 771 2 0 MBIP BEC_806,NA10830 nsv832771 14 35840758 36033792 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450923,nssv1450924 M 95 0 2 MBIP,SFTA3 nsv518747 14 35856977 35879677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696196 S 2026 0 1 MBIP nsv516256 14 35872483 35879677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690674,nssv667108 M 2026 0 2 "" dgv132n21 14 35947452 35959323 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526831,nsv522537 M 2026 0 2 "" nsv826922 14 36050188 36050640 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437003 S 31 1 0 SFTA3 NA18542 esv990813 14 36050536 36050599 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585645 S 3 0 1 SFTA3 HuRef nsv819045 14 36055480 36057244 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419320 S 2 1 0 NKX2-1 AK1 esv23132 14 36056082 36060709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15094 S 451 0 1 NKX2-1 NA12156 esv32575 14 36117380 36122409 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99877 S 51 1 0 NKX2-8 22086 nsv819585 14 36200378 36208405 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419853 S 2 1 0 PAX9 AK1 nsv819749 14 36215575 36215748 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418981 S 2 0 1 PAX9 AK1 nsv523551 14 36349467 36350240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699329 S 2026 0 1 SLC25A21 esv259653 14 36349735 36350023 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394214,essv2394078,essv2394268 M 6 0 0 Samples from several populations that are part of the HapMap project. SLC25A21 NA12878,NA19239,NA19240 nsv1244 14 36355917 36380258 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6589 S 9 1 0 SLC25A21 NA12156 esv28302 14 36499026 36499621 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12258 S 451 0 1 SLC25A21 NA18523 nsv526786 14 36569655 36607103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703138 S 2026 0 1 SLC25A21 esv275403 14 36620792 36626108 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586152 S 1250 0 1 SLC25A21 nsv507743 14 36659387 36665387 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617881,nssv623166,nssv620559,nssv619127 M 4 4 0 SLC25A21 CHM,NA10860,NA15510,NA18994 nsv511032 14 36683211 36703968 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622405 S 4 0 0 SLC25A21 NA10860 nsv901635 14 36692928 36852024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593898 S 6533 1 0 LOC100129794,MIPOL1,SLC25A21 IS39625 nsv507744 14 36693122 36699122 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620560,nssv623167,nssv617882 M 4 3 0 SLC25A21 CHM,NA15510,NA18994 dgv1876n71 14 36772550 36813334 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901637,nsv901636 M 6533 0 2 MIPOL1 SP52114,SP57368 nsv901638 14 36772550 36884575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508713 S 6533 0 1 MIPOL1 SP54579 nsv901639 14 36813334 37108219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576180 S 6533 0 1 MIPOL1 IS33894 esv2617029 14 36832483 36842366 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376672 S 1 0 1 MIPOL1 NA18507 nsv511542 14 36838520 36843417 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626165 S 1 0 1 MIPOL1 1 esv23551 14 36839404 36840949 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19110,esv18999 M 451 6 0 MIPOL1 NA18505,NA18517,NA18907,NA19099,NA19108,NA19190 nsv821405 14 36839404 36840949 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421087 S 1 0 1 MIPOL1 NA10851 nsv901640 14 36852024 37032855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580231 S 6533 0 1 MIPOL1 IS35244 esv2632367 14 36960373 36961315 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270244 S 1 1 0 MIPOL1 NA18507 esv268493 14 36960765 36961098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513808,essv2518878,essv2518325 M 157 3 0 Samples from several populations that are part of the HapMap project. MIPOL1 NA19143,NA19239,NA19240 esv273044 14 36960770 36961091 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584769,essv2583797 M 7 2 0 Samples from several populations that are part of the HapMap project. MIPOL1 NA19239,NA19240 nsv901641 14 37009152 37110506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515354 S 6533 0 1 MIPOL1 SP56172 nsv826923 14 37087370 37178396 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428632 S 31 1 0 FOXA1,MIPOL1 AK10 esv1397260 14 37094318 37094318 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354475 S 2 1 0 "" HuRef nsv832772 14 37100051 37295672 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450925 S 95 0 1 FOXA1 dgv1877n71 14 37111621 37150756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901643,nsv901642,nsv901646 M 6533 0 3 FOXA1 SP54043,SP54956,SP55021 dgv1878n71 14 37118858 37135564 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901645,nsv901649,nsv901647,nsv901644,nsv901648 M 6533 0 7 FOXA1 SP51109,SP54225,SP54684,SP54725,SP54988,SP55019,SP56223 esv994915 14 37199666 37207593 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565431 S 3 0 1 "" HuRef esv1010397 14 37202356 37207503 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586076 S 3 0 1 "" HuRef esv996830 14 37202899 37207563 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569630 S 3 0 1 "" HuRef esv26119 14 37203305 37207532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20860 S 451 0 4 "" NA07037,NA11894,NA12156,NA12828 esv1001796 14 37204430 37207356 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587202 S 3 0 1 "" HuRef esv1317706 14 37264240 37264298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612403 S 2 0 1 "" HuRef esv2494018 14 37288369 37289926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195194 S 1 0 1 "" NA18507 esv2161720 14 37314789 37315397 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542453 S 1 0 1 "" NA18507 esv4501 14 37314945 37315260 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26942 S 1 0 1 Single Asian sample YH "" YH esv1201293 14 37315002 37315218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148471 S 2 0 1 "" HuRef esv6595 14 37315007 37315206 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29036 S 1 0 1 "" SJK esv1090380 14 37317303 37317365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198659 S 2 0 1 "" HuRef nsv901650 14 37359693 37401651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518742 S 6533 0 1 "" SP57973 esv267499 14 37395188 37396112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496791,essv2510722,essv2494894 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18520 esv22429 14 37428605 37435517 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11220 S 451 0 1 "" NA12776 esv2597059 14 37428735 37429696 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310171 S 1 1 0 "" NA18507 esv269037 14 37429355 37429694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565834,essv2575964,essv2571618,essv2521340,essv2526188,essv2542262,essv2536554,essv2568064,essv2545674,essv2523277,essv2531964,essv2577415,essv2570470,essv2548553,essv2576611,essv2550789,essv2525463,essv2535276,essv2554192,essv2547596,essv2529260,essv2564641,essv2577742,essv2559687,essv2520090,essv2537684,essv2528277,essv2546973,essv2540025,essv2552452,essv2551697,essv2569325,essv2539210,essv2561528,essv2563081,essv2523915,essv2541288,essv2538236,essv2543009,essv2524649,essv2539555,essv2549425,essv2522100,essv2566050,essv2532639,essv2528959,essv2570014,essv2563862,essv2553495,essv2542128,essv2569059,essv2543504,essv2528027,essv2562417,essv2578417,essv2530069,essv2573986,essv2527463,essv2531414,essv2573473,essv2543293,essv2527022,essv2529795,essv2538576,essv2526661,essv2560622,essv2560904,essv2568766,essv2545737,essv2574393,essv2551360,essv2536324,essv2537982,essv2548706,essv2533152,essv2554545,essv2548010,essv2524944,essv2563534 M 157 79 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11840,NA11894,NA11918,NA11919,NA11920,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12717,NA12749,NA12751,NA12761,NA12776,NA12815,NA12878,NA12891,NA12892,NA18489,NA18502,NA18504,NA18508,NA18519,NA18523,NA18532,NA18537,NA18545,NA18547,NA18550,NA18555,NA18563,NA18564,NA18571,NA18572,NA18576,NA18579,NA18593,NA18603,NA18605,NA18856,NA18861,NA18870,NA18907,NA18909,NA18940,NA18949,NA18951,NA18952,NA18961,NA18964,NA18965,NA19005,NA19093,NA19108,NA19114,NA19116,NA19137,NA19147,NA19239,NA19240,NA19257 esv274458 14 37429355 37429694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582207,essv2582675,essv2582869,essv2584778,essv2583478 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv994902 14 37438181 37444715 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565785 S 3 0 1 "" HuRef nsv901651 14 37489111 37625993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564189 S 6533 0 1 "" IS30178 nsv901652 14 37572030 37663944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600787 S 6533 0 1 "" IS41924 nsv456209 14 37625993 37654015 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533575 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00935 esv1200555 14 37639637 37639877 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908582 S 2 0 1 "" HuRef esv1505102 14 37640087 37640155 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182755 S 2 0 1 "" HuRef nsv832773 14 37682529 37854754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450926,nssv1450927 M 95 0 2 CLEC14A,SSTR1 esv3107 14 37713181 37713730 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25548 S 1 0 1 Single Asian sample YH "" YH esv8606 14 37713253 37713565 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31047 S 1 0 1 "" SJK nsv85762 14 37713263 37713579 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104340 M 24 "" nsv1245 14 37755911 37788778 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1187 S 9 1 0 "" NA19240 nsv456210 14 37761320 37822503 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533576 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLEC14A HGDP00137 nsv901653 14 37780816 37811727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518173 S 6533 0 1 CLEC14A SP57469 esv267773 14 37813842 37813934 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548219,essv2554300,essv2577893,essv2554936,essv2537818,essv2547803 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA12045,NA12287,NA12761,NA12872 esv29381 14 37813955 37814398 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20101 S 451 1 0 "" NA11993 dgv616e1 14 37858356 37874184 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20700,esv1335 M 271 0 0 "" NA12802 nsv9135 14 37868221 37873628 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18970 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 esv29742 14 37871086 37873365 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18216 S 451 0 1 "" NA12287 nsv901654 14 37891941 37940207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507200 S 6533 0 1 "" SP54490 nsv510632 14 37938064 38009678 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618913 S 4 0 1 "" NA10860 nsv901655 14 37957632 38089551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589900 S 6533 1 0 "" IS38429 nsv438261 14 37999805 38008024 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470624,nssv470623 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18501,NA18858 nsv456211 14 38028718 38108032 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533577 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00810 nsv515869 14 38028718 38108032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665093,nssv663776,nssv678367 M 2026 0 3 "" nsv512356 14 38071773 38074952 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624941 S 1 0 1 "" 1 nsv821485 14 38074258 38074766 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421088 S 1 0 1 "" NA10851 nsv826924 14 38074258 38074766 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425310,nssv1429388,nssv1437004,nssv1430135,nssv1438431,nssv1439261,nssv1427822 M 31 6 1 "" AK12,AK14,AK2,AK8,NA18542,NA18951,NA18973 esv33287 14 38074320 38074525 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96986,essv98976,essv93685 M 51 0 3 "" 21817,21938,21972 esv2398559 14 38128809 38129197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919311 S 1 0 1 "" NA18507 nsv84949 14 38128923 38128972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103527 M 24 "" esv269882 14 38142144 38142529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512487,essv2510885,essv2502152 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA19116,NA19257 nsv470631 14 38223515 38509857 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547554 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283547 HGDP00866 esv269285 14 38230474 38230820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546345,essv2521437,essv2570986,essv2568311,essv2523361,essv2550575,essv2544299,essv2520232,essv2530700,essv2561745,essv2532040,essv2523612,essv2541303,essv2524634,essv2564977,essv2534689,essv2561028,essv2559883,essv2521927,essv2532772,essv2567776,essv2570234,essv2563829,essv2553432,essv2572601,essv2533499,essv2555661,essv2573846,essv2527671,essv2534330,essv2522561,essv2571850,essv2560538,essv2524902,essv2563332 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11881,NA11894,NA11993,NA11995,NA12004,NA12155,NA12414,NA12815,NA12873,NA12874,NA18505,NA18537,NA18545,NA18555,NA18558,NA18561,NA18562,NA18570,NA18571,NA18576,NA18577,NA18593,NA18603,NA18605,NA18609,NA18944,NA18945,NA18951,NA18952,NA18959,NA18960,NA18973,NA19116 esv1032505 14 38230520 38230520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704449 S 2 1 0 "" HuRef esv2628842 14 38339270 38340632 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382046 S 1 0 1 LOC283547 NA18507 nsv522416 14 38425897 38428527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695200 S 2026 1 0 LOC283547 nsv901656 14 38440477 38493090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574747 S 6533 0 1 LOC283547 IS33616 nsv901657 14 38480457 38529823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557656 S 6533 0 1 "" MS22797 nsv84944 14 38527976 38528041 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103522 M 24 "" esv259479 14 38572367 38572704 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394168,essv2393868,essv2393804,essv2393749,essv2394052,essv2394264 M 6 0 0 Samples from several populations that are part of the HapMap project. SEC23A NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259821 14 38572376 38572708 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400189,essv2400020,essv2394743,essv2399063,essv2400332,essv2400871,essv2399823,essv2398896,essv2395764,essv2396224,essv2400557,essv2397589,essv2398073,essv2399945,essv2399367,essv2398652,essv2395399,essv2399183,essv2399714,essv2397269,essv2401094,essv2396910,essv2397616,essv2394733,essv2395257,essv2395574,essv2397625,essv2397825,essv2396573,essv2399231,essv2394972,essv2396523,essv2395028,essv2399316,essv2396148,essv2396639,essv2395699,essv2400719,essv2394945,essv2396300,essv2395509,essv2397412,essv2399552,essv2397858,essv2398833,essv2400153,essv2396836,essv2399424,essv2400105,essv2394683,essv2397913,essv2398216,essv2395368,essv2394456,essv2396199,essv2395875,essv2395427,essv2398186,essv2397114,essv2400802,essv2397747,essv2394574,essv2398759,essv2398340,essv2400968,essv2395150,essv2394858,essv2399813,essv2399540,essv2396417,essv2398005,essv2397207,essv2395939,essv2397034,essv2400510 M 144 0 0 Samples from several populations that are part of the HapMap project. SEC23A NA07037,NA07051,NA07357,NA10851,NA11881,NA11993,NA11994,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18542,NA18545,NA18558,NA18563,NA18566,NA18570,NA18577,NA18582,NA18608,NA18638,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18965,NA19005,NA19093,NA19099,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240 nsv85298 14 38572469 38572469 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103876 M 24 SEC23A esv8908 14 38572558 38572614 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31349 S 1 1 0 SEC23A SJK nsv85182 14 38572598 38572598 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103760 M 24 SEC23A esv273969 14 38578243 38578606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579011,essv2579489 M 7 2 0 Samples from several populations that are part of the HapMap project. SEC23A NA19239,NA19240 esv268040 14 38578245 38578575 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496739,essv2494281,essv2493210,essv2493816,essv2509064,essv2498401,essv2505912,essv2513295,essv2509335,essv2507441,essv2495734,essv2504752,essv2506905,essv2498709,essv2497599,essv2512066,essv2497984,essv2502092 M 157 18 0 Samples from several populations that are part of the HapMap project. SEC23A NA18498,NA18502,NA18504,NA18517,NA18522,NA18858,NA18861,NA18907,NA18909,NA18912,NA18916,NA19099,NA19102,NA19138,NA19147,NA19238,NA19240,NA19257 esv997844 14 38600929 38602977 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564514 S 3 1 0 SEC23A HuRef nsv85230 14 38633157 38633210 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103808 M 24 SEC23A esv1683314 14 38633272 38633326 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119995 S 2 0 1 SEC23A HuRef esv27326 14 38701670 38703051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18329 S 451 0 5 TRAPPC6B NA18517,NA18858,NA19099,NA19129,NA19225 nsv85488 14 38701823 38703074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104066 M 24 TRAPPC6B nsv1246 14 38726348 38771271 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9184 S 9 0 1 "" NA12156 nsv84871 14 38768151 38777748 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103449 M 24 MIA2 esv272287 14 38790261 38790551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580223,essv2580362,essv2579892,essv2579277,essv2579636 M 7 5 0 Samples from several populations that are part of the HapMap project. MIA2 NA12878,NA12891,NA12892,NA19239,NA19240 nsv84573 14 38816628 38816679 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103151 M 24 CTAGE5 esv1110364 14 38816642 38816704 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053715 S 2 0 1 CTAGE5 HuRef nsv832774 14 38967497 39130574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450929 S 95 0 1 FBXO33 nsv456212 14 39027188 39166639 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533578 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00563 nsv1247 14 39040838 39074763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4107 S 9 1 0 "" NA12878 nsv519481 14 39049504 39052879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690476,nssv693898,nssv656352 M 2026 0 3 "" nsv901658 14 39096649 39166639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598948 S 6533 0 1 "" IS41113 nsv832775 14 39108486 39263310 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450930,nssv1450931 M 95 1 1 "" nsv1248 14 39108610 39153454 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9185 S 9 0 1 "" NA12156 esv269205 14 39153768 39154048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496614,essv2506866,essv2510933 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA19102,NA19116 esv2468369 14 39167741 39170732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284674 S 1 0 1 "" NA18507 nsv512357 14 39167790 39170187 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624942 S 1 0 1 "" 1 esv2165088 14 39167955 39170172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923080 S 1 0 1 "" NA18507 esv5145 14 39168110 39170062 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27586 S 1 0 1 Single Asian sample YH "" YH esv6538 14 39168121 39169959 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28979 S 1 0 1 "" SJK dgv33n6 14 39168143 39169982 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv85409,nsv84450 M 24 "" nsv433529 14 39203572 39207286 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463410 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv269290 14 39252650 39252735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514203 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv271871 14 39256142 39256309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511830,essv2493741,essv2505825,essv2494011,essv2498978,essv2493559,essv2497584 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18517,NA18861,NA18871,NA19114,NA19137,NA19147 nsv901659 14 39260670 39352613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579874 S 6533 0 1 "" IS35181 nsv832776 14 39272923 39411980 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450932 S 95 0 1 "" esv2751272 14 39286631 39982980 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984407,essv6989953,essv6984408,essv6989427 M 771 0 1 "" BEC_704 nsv525070 14 39372627 39423507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701124 S 2026 0 1 "" nsv901660 14 39372627 39480516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579140 S 6533 0 1 "" IS35025 nsv518803 14 39382051 39384221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696257 S 2026 0 1 "" esv267386 14 39382679 39383017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571712,essv2546271,essv2521339,essv2526042,essv2523032,essv2548165,essv2550342,essv2554085,essv2565358,essv2576159,essv2519989,essv2555078,essv2530743,essv2562061,essv2537711,essv2528507,essv2547038,essv2577093,essv2530307,essv2572890,essv2571327,essv2545929,essv2574305 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11918,NA11931,NA12045,NA12234,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv273802 14 39382681 39383013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582064,essv2582450,essv2583099,essv2583912,essv2584702,essv2583631 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1061040 14 39382717 39382717 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661525 S 2 1 0 "" HuRef esv1003234 14 39387147 39387147 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584457 S 3 1 0 "" HuRef esv1142831 14 39387148 39387148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787696 S 2 1 0 "" HuRef nsv85496 14 39387148 39387148 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104074 M 24 "" esv28536 14 39423759 39443313 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11978 S 451 1 0 "" NA11894 esv2645088 14 39449214 39450764 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357377 S 1 0 1 "" NA18507 nsv901661 14 39480516 39650286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568973 S 6533 0 1 "" IS31373 dgv84e55 14 39482546 39678075 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751274,esv2751273,esv2751275 M 771 0 3 "" BEC_126,BEC_48,SPC_4 nsv521372 14 39537500 39662131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697981 S 2026 0 1 "" dgv133n21 14 39556095 39570844 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517945,nsv516104 M 2026 0 3 "" esv1636012 14 39598444 39598444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3789923 S 2 1 0 "" HuRef nsv518754 14 39633755 39641992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694270 S 2026 0 1 "" esv271203 14 39649405 39649733 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565570,essv2575894,essv2540952,essv2571810,essv2546563,essv2521408,essv2526092,essv2542470,essv2536507,essv2523027,essv2543897,essv2568201,essv2531728,essv2570601,essv2548375,essv2521768,essv2576694,essv2525214,essv2550290,essv2535209,essv2554290,essv2552273,essv2520497,essv2547271,essv2529285,essv2558428,essv2564741,essv2559596,essv2576216,essv2519978,essv2530872,essv2562027,essv2537295,essv2528184,essv2546665,essv2520754,essv2557384,essv2550038,essv2536902,essv2569651,essv2562991,essv2523772,essv2541406,essv2540627,essv2565019,essv2534557,essv2561240,essv2549553,essv2560111,essv2565959,essv2532766,essv2567451,essv2541805,essv2570221,essv2535795,essv2559101,essv2566904,essv2550963,essv2527779,essv2578154,essv2555306,essv2533512,essv2557765,essv2522500,essv2531667,essv2577107,essv2572059,essv2575374,essv2526387,essv2574556,essv2568684,essv2549686,essv2571391,essv2574331,essv2535944,essv2538159,essv2548862,essv2533344,essv2547905,essv2525179,essv2563308 M 157 81 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11995,NA12006,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12776,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18511,NA18517,NA18520,NA18532,NA18537,NA18545,NA18552,NA18558,NA18561,NA18562,NA18564,NA18570,NA18572,NA18576,NA18582,NA18592,NA18593,NA18608,NA18638,NA18853,NA18858,NA18907,NA18940,NA18943,NA18944,NA18953,NA18960,NA18961,NA18970,NA18973,NA19099,NA19114,NA19138,NA19147,NA19225,NA19238,NA19240 esv273200 14 39649410 39649736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581795,essv2582583,essv2583163,essv2584259,essv2583551 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1011287 14 39651009 39651010 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579974 S 3 1 0 "" HuRef esv1650634 14 39651010 39651010 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672247 S 2 1 0 "" HuRef esv271706 14 39662160 39662312 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575922,essv2540796,essv2546367,essv2521443,essv2525984,essv2542385,essv2536450,essv2522702,essv2544157,essv2570997,essv2568409,essv2531877,essv2570483,essv2548400,essv2521795,essv2576730,essv2535335,essv2554303,essv2544419,essv2551970,essv2520401,essv2547465,essv2529298,essv2558361,essv2564642,essv2577652,essv2559764,essv2565411,essv2576227,essv2562110,essv2537662,essv2528334,essv2546654,essv2520857,essv2557493,essv2552629,essv2549978,essv2536899,essv2562996,essv2523888,essv2541306,essv2564833,essv2534856,essv2549137,essv2566103,essv2532713,essv2567329,essv2541510,essv2570017,essv2535722,essv2566827,essv2551147,essv2527808,essv2533951,essv2578273,essv2555244,essv2533711,essv2557649,essv2522504,essv2572097,essv2575647,essv2526551,essv2568499,essv2571481,essv2574412,essv2535908,essv2537899,essv2549039,essv2533176,essv2525071 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12006,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18511,NA18517,NA18532,NA18537,NA18545,NA18558,NA18561,NA18564,NA18572,NA18576,NA18582,NA18592,NA18593,NA18608,NA18853,NA18858,NA18907,NA18916,NA18940,NA18943,NA18944,NA18953,NA18960,NA18973,NA19099,NA19114,NA19147,NA19238,NA19240 esv273127 14 39662168 39662316 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582089,essv2582625,essv2583274,essv2583999,essv2583477 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 nsv84321 14 39662195 39662195 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102899 M 24 "" nsv1249 14 39665369 39704787 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1188,nssv6590,nssv4108 M 9 0 3 "" NA12156,NA12878,NA19240 nsv901662 14 39669774 39744190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567212,nssv1550859 M 6533 0 2 "" IS31046,MS18620 nsv510633 14 39670063 39705987 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617413,nssv622683,nssv620072,nssv618914 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv988802 14 39678482 39687954 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564266 S 3 0 1 "" HuRef nsv512358 14 39679507 39687435 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624943 S 1 0 1 "" 1 nsv435652 14 39679507 39687925 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466760 S 2 0 1 "" NA15510 esv6282 14 39679556 39687431 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28723 S 1 0 1 "" SJK nsv498828 14 39679565 39687424 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585689 S 9 0 1 "" esv29074 14 39679595 39687469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19756 S 451 0 25 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18858,NA18861,NA18907,NA18916,NA19099,NA19147,NA19240 nsv826925 14 39679631 39680214 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428633,nssv1431617,nssv1439955,nssv1423737,nssv1440638,nssv1435818,nssv1430137,nssv1426109,nssv1424547 M 31 0 9 "" AK10,AK14,AK18,AK4,NA18537,NA18564,NA18582,NA18592,NA18999 dgv371n67 14 39679631 39687447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826926,nsv826927 M 31 0 6 "" AK12,AK16,AK8,NA18552,NA18968,NA18973 nsv514739 14 39683620 39687104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628207 S 1414 0 1 "" nsv522184 14 39709044 39709964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694139 S 2026 0 1 "" nsv901663 14 39709964 39949725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567699 S 6533 0 1 "" IS31137 dgv1879n71 14 39733728 40502100 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901669,nsv901664 M 6533 0 2 "" IS35181,MS17114 nsv519331 14 39744190 39746668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693187,nssv655468 M 2026 0 2 "" nsv524780 14 39771429 39787593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700771 S 2026 0 1 "" dgv1880n71 14 39771429 39871501 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901665,nsv901668 M 6533 0 3 "" IS41113,MS13292,MS24729 dgv1881n71 14 39771429 39933129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901667,nsv901666 M 6533 0 4 "" IS31179,IS31285,IS31330,MS18620 nsv522380 14 39787593 39800852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695160 S 2026 0 1 "" nsv1250 14 39807334 39839763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10014 S 9 1 0 "" NA18956 esv2426667 14 39904324 39905890 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308555 S 1 0 1 "" NA18507 nsv528830 14 39924782 40033911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705504 S 2026 0 1 "" nsv1251 14 39930844 39968752 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9186 S 9 0 1 "" NA12156 nsv442333 14 39940733 39942282 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv271685 14 39942685 39942811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493931,essv2513526,essv2509288,essv2507298,essv2495537,essv2510802,essv2510453 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA18907,NA18909,NA18912,NA18916,NA19116,NA19172 esv269432 14 39952619 39952779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557982,essv2565791,essv2540808,essv2571567,essv2546465,essv2536623,essv2544068,essv2571038,essv2545542,essv2577307,essv2576793,essv2550614,essv2544560,essv2529323,essv2553703,essv2565356,essv2520060,essv2564055,essv2530565,essv2537249,essv2528562,essv2546945,essv2552349,essv2544900,essv2523694,essv2552917,essv2542635,essv2540373,essv2524658,essv2564894,essv2534704,essv2539612,essv2549151,essv2519767,essv2559859,essv2522211,essv2565930,essv2532480,essv2567710,essv2567468,essv2541760,essv2570003,essv2563779,essv2553125,essv2535574,essv2572393,essv2572944,essv2567240,essv2566615,essv2530048,essv2527706,essv2557642,essv2556082,essv2534348,essv2522598,essv2531541,essv2543241,essv2572148,essv2529476,essv2538625,essv2549745,essv2571251,essv2574497,essv2536095,essv2548947,essv2554623,essv2563309 M 157 67 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11920,NA11992,NA11993,NA12003,NA12043,NA12154,NA12155,NA12414,NA12749,NA12763,NA12812,NA12815,NA12828,NA12873,NA12878,NA12891,NA12892,NA18502,NA18526,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18942,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18973,NA19093,NA19108,NA19225,NA19238,NA19240 esv274156 14 39952620 39952747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581999,essv2582347,essv2582901,essv2584198,essv2583714 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv27120 14 39960330 39960892 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12618 S 451 1 0 "" NA12776 nsv901670 14 39966526 40009148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554648 S 6533 0 1 "" MS20872 dgv1882n71 14 39976970 40079767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901674,nsv901671 M 6533 0 4 "" IS33533,MS12555,MS12648,MS13228 dgv1883n71 14 39977742 40011225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901678,nsv901672,nsv901673 M 6533 0 5 "" IS30532,IS31041,IS31137,IS35771,MS13426 dgv1884n71 14 39977742 40129784 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901675,nsv901676,nsv901677,nsv901679 M 6533 0 4 "" IS31285,IS33864,IS39450,MS22104 dgv245n27 14 39980430 40000726 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456214,nsv456215 M 1557 0 2 "" HGDP00828,NINDS_97 nsv456216 14 39999056 40018138 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533581 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01030 nsv523349 14 40000726 40000837 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699098 S 2026 1 0 "" nsv832777 14 40026915 40224378 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450933 S 95 1 0 "" nsv901680 14 40093443 40185030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600788 S 6533 0 1 "" IS41924 nsv901681 14 40136424 40192588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566179 S 6533 0 1 "" IS30597 nsv901682 14 40151933 40192588 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588047,nssv1583078,nssv1565887,nssv1579976,nssv1583259,nssv1569975,nssv1578037,nssv1587574,nssv1571189,nssv1594542 M 6533 1 9 "" IS30532,IS31758,IS32615,IS34645,IS35196,IS36244,IS36364,IS38065,IS38148,IS39923 dgv1885n71 14 40151933 40264012 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901685,nsv901683,nsv901687,nsv901686 M 6533 0 12 "" IS30539,IS30925,IS31067,IS31679,IS32006,IS32365,IS32607,IS41043,MS15312,MS18748,MS20872,MS22104 dgv1886n71 14 40151933 40366328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901688,nsv901684,nsv901692,nsv901689 M 6533 0 4 "" IS31041,IS36219,IS37999,IS39011 nsv456217 14 40162978 40187848 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533582 S 1557 0 1 "" NINDS_103 nsv470632 14 40172657 40206466 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547555 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 dgv1887n71 14 40172657 40319704 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901690,nsv901691 M 6533 2 0 "" IS39119,IS40046 esv273836 14 40196368 40196541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584457,essv2583670 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv456220 14 40203014 40206466 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533585 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01408 nsv84457 14 40209283 40209283 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103035 M 24 "" esv268332 14 40243497 40243828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2551778,essv2532352,essv2569542,essv2538863,essv2528039,essv2572748 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18508,NA18519,NA18907,NA19143 nsv901693 14 40330334 40565293 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541217 S 6533 0 1 "" MS15199 dgv1888n71 14 40368158 40474843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901694,nsv901695 M 6533 0 2 "" IS35083,MS15312 esv1415636 14 40383309 40383309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108058 S 2 1 0 "" HuRef nsv456222 14 40387856 40448683 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533586 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01237 nsv901696 14 40420142 40507430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598340 S 6533 0 1 "" IS41043 esv2393794 14 40432989 40433304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904201 S 1 0 1 "" NA18507 nsv901697 14 40434701 40470655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515609 S 6533 0 1 "" SP56224 esv2528130 14 40445636 40447043 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350034 S 1 0 0 "" NA18507 nsv456223 14 40474843 40609525 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533587 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00127 dgv134n21 14 40502100 40675306 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523330,nsv528301 M 2026 0 2 "" nsv456224 14 40502100 41129031 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533588 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00745 esv269619 14 40525684 40525764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522768,essv2570790,essv2534977,essv2553834,essv2564010,essv2555146,essv2555408,essv2543270,essv2533132 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11931,NA11993,NA12249,NA12763,NA12828,NA12872,NA18943,NA18965 nsv9137 14 40541375 40556084 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22853 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 esv24417 14 40541783 40553478 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15164 S 451 0 1 "" NA18909 nsv442334 14 40541848 40555277 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv617e1 14 40541848 40562301 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9850,essv14668,esv1310 M 271 0 0 "" NA19144,NA19145 nsv901698 14 40565658 40679974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538099 S 6533 0 1 "" MS13480 nsv523250 14 40581871 40641488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698979 S 2026 0 1 "" esv25500 14 40585568 40595811 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13118 S 451 1 0 "" NA18858 esv2604042 14 40596996 40598407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191218 S 1 0 1 "" NA18507 nsv901699 14 40610435 40744653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594145 S 6533 0 1 "" IS39716 nsv901700 14 40635506 40679974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577574,nssv1599868 M 6533 0 2 "" IS34489,IS41803 dgv1889n71 14 40641488 40748216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901701,nsv901704,nsv901705 M 6533 0 4 "" IS31617,IS33491,IS35993,IS39718 nsv85827 14 40645367 40645367 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104405 M 24 "" dgv618e1 14 40646835 40769154 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1427,essv24353,essv23765,essv24644,essv3916 M 271 0 0 "" NA10839,NA10846,NA11994,NA18960 nsv901702 14 40649267 40675306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541218 S 6533 0 1 "" MS15199 dgv1890n71 14 40649267 40872982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901706,nsv901703 M 6533 0 2 "" IS33196,IS35181 nsv832778 14 40651154 40807756 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450936,nssv1450935,nssv1450934 M 95 0 3 "" dgv619e1 14 40655458 40706033 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22609,essv18461 M 271 0 0 "" NA11832,NA12154 dgv1891n71 14 40669140 40744653 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv901717,nsv901709 M 6533 2 17 "" IS36364,MS16697,SP50615,SP51042,SP51302,SP52064,SP52299,SP52493,SP52529,SP53242,SP53863,SP54461,SP54526,SP54967,SP55820,SP56861,SP56874,SP56880,SP57669 dgv1892n71 14 40669140 40748216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901710,nsv901719,nsv901721,nsv901724,nsv901722,nsv901726,nsv901725,nsv901708,nsv901713,nsv901720,nsv901707,nsv901718,nsv901712,nsv901714 M 6533 0 158 "" IS30669,IS30694,IS30923,IS31074,IS31259,IS31306,IS31373,IS31546,IS35100,IS37103,IS37999,IS39081,IS41924,MS11237,MS13759,MS16122,MS17642,MS18540,MS18779,MS22580,SP50029,SP50063,SP50082,SP50085,SP50117,SP50144,SP50171,SP50176,SP50182,SP50521,SP50532,SP50761,SP50850,SP50876,SP50921,SP50927,SP50936,SP50973,SP51021,SP51161,SP51353,SP51413,SP51494,SP52017,SP52035,SP52080,SP52082,SP52114,SP52130,SP52174,SP52175,SP52270,SP52274,SP52377,SP52470,SP52566,SP52607,SP52772,SP52834,SP52893,SP53060,SP53528,SP54002,SP54049,SP54058,SP54095,SP54373,SP54384,SP54389,SP54395,SP54401,SP54429,SP54467,SP54471,SP54524,SP54532,SP54575,SP54606,SP54617,SP54652,SP54684,SP54693,SP54725,SP54760,SP54782,SP54935,SP55027,SP55106,SP55160,SP55212,SP55257,SP55401,SP55424,SP55509,SP55511,SP55565,SP55621,SP55650,SP55660,SP55677,SP55684,SP55690,SP55692,SP55748,SP55763,SP55791,SP55795,SP55797,SP55842,SP55882,SP55883,SP56072,SP56086,SP56094,SP56096,SP56114,SP56116,SP56152,SP56173,SP56196,SP56213,SP56231,SP56301,SP56304,SP56350,SP56373,SP56457,SP56458,SP56710,SP56795,SP56856,SP56887,SP56959,SP56960,SP57163,SP57322,SP57324,SP57336,SP57376,SP57463,SP57478,SP57481,SP57482,SP57507,SP57553,SP57651,SP57754,SP57905,SP58299,SP58462,SP80953,SP80959,SP80975,SP80992,SP81009,SP81015,SP81024,SP81097 dgv1893n71 14 40670768 40728199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901716,nsv901711 M 6533 0 9 "" SP50109,SP50652,SP51481,SP54189,SP56002,SP56064,SP56119,SP56224,SP57469 nsv511033 14 40672610 40754862 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622406 S 4 0 0 "" NA10860 dgv2n43 14 40673884 40739852 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819212,nsv820157,nsv819390 M 2 0 1 "" AK1 dgv620e1 14 40676601 40706033 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24210,essv634,essv21352,essv20717,essv17419,essv17695,essv18521,essv25043,essv21655,essv18550,essv19332,essv18033,essv2418,essv728,essv2725 M 271 0 0 "" NA06993,NA10835,NA10860,NA11993,NA12144,NA12752,NA12760,NA12761,NA12763,NA12801,NA12872,NA18940,NA18951,NA18965,NA18998 nsv901715 14 40676601 40721246 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500374,nssv1513673,nssv1501713,nssv1509254,nssv1512755,nssv1502769,nssv1512880,nssv1499281 M 6533 1 7 "" SP50535,SP50559,SP50859,SP51411,SP54769,SP55611,SP55649,SP55822 dgv18n50 14 40676601 40739852 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512359,nsv511531 M 1 0 1 "" 1 dgv621e1 14 40676601 40769154 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1812,essv23102,essv18685,essv760,essv2909,essv23290,essv4310,essv20477,essv24170,essv1652,essv5679,essv21914,essv6478,essv24314,essv20842,essv23743,essv22251,essv24109,essv19796,essv23715,essv20546,essv6441,essv7471,essv5950,essv22706,essv936,essv2122 M 271 0 0 "" NA07048,NA10838,NA11829,NA11882,NA11992,NA11995,NA12004,NA12006,NA12043,NA12056,NA12249,NA12740,NA12751,NA12813,NA12864,NA18564,NA18577,NA18592,NA18605,NA18633,NA18636,NA18949,NA18959,NA18961,NA18971,NA19003,NA19007 nsv9138 14 40678078 40739687 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21093,nssv21116,nssv21544,nssv19571,nssv21378,nssv22029 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA12740,NA12872,NA18564,NA19007 esv29370 14 40678351 40739320 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17479 S 451 0 7 "" NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12749 nsv826928 14 40679711 40739461 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431618,nssv1437746,nssv1435829,nssv1440639,nssv1438432,nssv1427035 M 31 0 6 "" AK18,AK6,NA18564,NA18592,NA18949,NA18951 esv2421607 14 40679974 40738084 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107459,essv5090784,essv5136977,essv5102112,essv5141668,essv5088575,essv5009444,essv5057605,essv5089099,essv5007860,essv5160944,essv5136438,essv5030431,essv5042395,essv5060919,essv5080138,essv5031431,essv5145301,essv5087975,essv5006291,essv5004156,essv5160044,essv5023003,essv5038906,essv5159184,essv5038061,essv5069563,essv5132319,essv5074551,essv5141717,essv5018178,essv5158944,essv5092357,essv5072317,essv5105276,essv5045652,essv5074430,essv5091434,essv5051743,essv5158932,essv5151724,essv5044819,essv5092083,essv5103522,essv5060738,essv5036475,essv5068850,essv5101205,essv5151216,essv5027808,essv5033758,essv5014075,essv5113361,essv5138613,essv5073284,essv5091746,essv5125449,essv5028255,essv5077136,essv5146350,essv5137545,essv5048310,essv5036097,essv5095924,essv5141894,essv5079868,essv5147159,essv5155676,essv5116652,essv5132597,essv5008230,essv5098572,essv5041823,essv5018535,essv5044372,essv5011824,essv5067054,essv5066668,essv5156140,essv5011819,essv5060507,essv5053410,essv5028035,essv5073390,essv5160769,essv5089197,essv5065079,essv5122951,essv5043286,essv5098069,essv5129838,essv5134668,essv5087400,essv5013219,essv5095888,essv5019866,essv5064341,essv5095482,essv5037348,essv5124863,essv5009100,essv5088351,essv5028979,essv5144704,essv5024986,essv5041179,essv5157505,essv5158824,essv5019322,essv5144216,essv5112658,essv5117604,essv5078892,essv5099455,essv5072929,essv5064466,essv5046359,essv5073431,essv5077182,essv5147802,essv5145077,essv5111434,essv5041431,essv5062903,essv5112716,essv5102325,essv5158239,essv5084956,essv5097262,essv5152894,essv5044333,essv5062222,essv5137885,essv5044495,essv5062939,essv5013414,essv5037849,essv5081090,essv5028381,essv5045698,essv5130362,essv5114444,essv5125882,essv5073689,essv5076581,essv5048946,essv5045296,essv5002770,essv5158431,essv5070711,essv5097101,essv5078627,essv5149129,essv5149979,essv5054734,essv5005814,essv5079598,essv5074308,essv5112370,essv5058479,essv5026443,essv5028864,essv5068487,essv5112293,essv5025464,essv5051080,essv5060536,essv5155271,essv5062919,essv5123914,essv5002871,essv5045912,essv5133853,essv5156197,essv5077841,essv5115523,essv5115921,essv5139192,essv5099495,essv5111751,essv5080991,essv5073128,essv5008458,essv5074187,essv5055596,essv5080122,essv5120583,essv5014544,essv5057639,essv5086451,essv5059022,essv5042317,essv5134344,essv5031440,essv5026411,essv5024417,essv5063594,essv5080982,essv5013296,essv5070748,essv5111794,essv5132412,essv5036191,essv5122335,essv5059432,essv5153600,essv5100506,essv5084081,essv5057988,essv5042493,essv5010869,essv5053886,essv5088227,essv5016320,essv5022102,essv5113183,essv5101517,essv5085834,essv5147142,essv5139468,essv5005679,essv5014662,essv5160060,essv5149590,essv5059067,essv5113232,essv5026719,essv5031597 M 1184 0 228 "" NA06991,NA06993,NA07014,NA07031,NA07045,NA07055,NA10835,NA10838,NA10839,NA10846,NA10850,NA10852,NA10853,NA10859,NA10861,NA10865,NA11829,NA11832,NA11882,NA11891,NA11931,NA11992,NA11993,NA11994,NA11995,NA12006,NA12043,NA12056,NA12144,NA12154,NA12248,NA12249,NA12340,NA12341,NA12376,NA12386,NA12399,NA12546,NA12739,NA12740,NA12748,NA12749,NA12751,NA12752,NA12760,NA12761,NA12763,NA12778,NA12801,NA12813,NA12818,NA12829,NA12830,NA12832,NA12843,NA12864,NA12865,NA12872,NA12875,NA12877,NA12889,NA12890,NA17966,NA17967,NA17968,NA17972,NA17974,NA17989,NA17993,NA17995,NA17998,NA18102,NA18105,NA18109,NA18112,NA18118,NA18122,NA18124,NA18131,NA18132,NA18134,NA18136,NA18140,NA18148,NA18151,NA18153,NA18159,NA18160,NA18166,NA18532,NA18544,NA18546,NA18548,NA18564,NA18577,NA18592,NA18595,NA18599,NA18605,NA18626,NA18627,NA18633,NA18636,NA18641,NA18645,NA18647,NA18740,NA18748,NA18757,NA18939,NA18940,NA18949,NA18951,NA18955,NA18959,NA18960,NA18961,NA18965,NA18971,NA18979,NA18993,NA18998,NA19007,NA19055,NA19058,NA19065,NA19066,NA19070,NA19074,NA19078,NA19080,NA19086,NA19088,NA19436,NA19474,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19660,NA19662,NA19664,NA19665,NA19670,NA19671,NA19681,NA19682,NA19683,NA19684,NA19718,NA19723,NA19724,NA19725,NA19726,NA19727,NA19747,NA19748,NA19749,NA19751,NA19756,NA19757,NA19759,NA19761,NA19762,NA19763,NA19773,NA19775,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19795,NA20281,NA20332,NA20505,NA20506,NA20508,NA20518,NA20520,NA20521,NA20525,NA20539,NA20544,NA20581,NA20752,NA20755,NA20756,NA20766,NA20771,NA20772,NA20778,NA20790,NA20792,NA20795,NA20796,NA20800,NA20810,NA20815,NA20818,NA20819,NA20846,NA20849,NA20854,NA20856,NA20885,NA20887,NA20897,NA20898,NA20908,NA21088,NA21103,NA21107,NA21116,NA21117,NA21119,NA21125,NA21142,NA21295,NA21317,NA21509,NA21528,NA21580,NA21733 nsv901723 14 40679974 40761338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598976,nssv1578280 M 6533 2 0 "" IS34748,IS41189 esv33981 14 40680006 40739688 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98874,essv96828,essv95214,essv98304,essv97043,essv93007,essv99038,essv92975,essv96082,essv96723,essv98609,essv96002,essv98028,essv96448,essv100405 M 51 0 15 "" 21606,21659,21721,21772,21817,21863,21938,21939,22007,22011,22085,22127,22259,22261,22300 nsv442683 14 40680246 40727099 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514740 14 40685956 40723404 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628208 S 1414 0 1 "" dgv1894n71 14 40718010 40804498 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901729,nsv901728,nsv901727 M 6533 0 4 "" IS30635,IS31330,IS35911,IS37226 nsv901730 14 40738084 40796955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551365 S 6533 0 1 "" MS18847 nsv826929 14 40738385 40739161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435840 S 31 0 1 "" NA18592 nsv1252 14 40739788 40785386 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6591 S 9 0 1 "" NA12156 nsv518766 14 40755865 40764763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696215 S 2026 0 1 "" nsv519067 14 40779461 40796955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694303 S 2026 0 1 "" dgv1895n71 14 40807147 40893640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901731,nsv901733 M 6533 0 2 "" IS34896,MS18620 dgv135n21 14 40828058 40836194 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527074,nsv528669 M 2026 0 2 "" nsv901732 14 40828058 40872982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555937 S 6533 0 1 "" MS21717 dgv622e1 14 40836311 40950477 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1040,essv8554 M 271 0 0 "" NA18503 nsv901734 14 40836756 40930602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554931 S 6533 0 1 "" MS21100 nsv901735 14 40836756 41008071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564881 S 6533 0 1 "" IS30311 nsv826930 14 40857048 40861485 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438433 S 31 0 1 "" NA18951 nsv901736 14 40858173 40939980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503619 S 6533 1 0 "" SP52081 nsv518804 14 40860924 40883002 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696258 S 2026 0 1 "" nsv510376 14 40861475 40867475 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621413 S 4 0 1 "" NA15510 esv28845 14 40883943 40929395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14241 S 451 0 1 "" NA18505 nsv436180 14 40884004 40930910 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466762 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv442336 14 40885215 40927856 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv9139 14 40891793 40898351 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21146,nssv22238,nssv19792,nssv20814,nssv24696,nssv26744,nssv24835 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18942,NA18975,NA19007,NA19132,NA19221 nsv1253 14 40903755 40937956 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9188 S 9 1 0 "" NA12156 esv271815 14 40909980 40910335 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500434,essv2497132,essv2500026,essv2499859,essv2507798,essv2511325,essv2494410,essv2512745,essv2511632,essv2504938,essv2511081,essv2502386,essv2512327,essv2497429,essv2496001,essv2495197,essv2502651,essv2500803,essv2512815 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18552,NA18558,NA18562,NA18564,NA18570,NA18572,NA18577,NA18940,NA18942,NA18944,NA18948,NA18949,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980 nsv522485 14 40939980 40941625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705852 S 2026 0 1 "" nsv456226 14 40939980 40978334 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533589 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00775 nsv901737 14 40941625 40998659 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550862 S 6533 0 1 "" MS18620 nsv826932 14 40967023 40970492 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435852 S 31 1 0 "" NA18592 nsv456227 14 40973264 41017578 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533590 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00766 esv2239502 14 41021462 41021903 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885200 S 1 0 1 "" NA18507 esv995389 14 41021612 41021677 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578860 S 3 0 1 "" HuRef nsv84826 14 41021613 41021678 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103404 M 24 "" esv1458540 14 41021679 41021745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251440 S 2 0 1 "" HuRef nsv85814 14 41021680 41021745 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104392 M 24 "" dgv623e1 14 41115623 41329261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv354,essv2544 M 271 0 0 LRFN5 NA19003 esv272572 14 41208692 41208818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580657,essv2579465 M 7 2 0 Samples from several populations that are part of the HapMap project. LRFN5 NA19238,NA19240 nsv901738 14 41215211 41372302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579332 S 6533 0 1 LRFN5 IS35083 esv2546243 14 41221715 41223160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389012 S 1 0 1 LRFN5 NA18507 nsv901739 14 41264123 41340666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563772 S 6533 0 1 LRFN5 IS30067 nsv510377 14 41270301 41276301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624160 S 4 0 1 LRFN5 NA18994 esv989039 14 41393950 41397759 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565134 S 3 0 1 LRFN5 HuRef nsv901740 14 41456609 41547006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506599 S 6533 0 1 "" SP54381 nsv522059 14 41537347 41547006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694830 S 2026 0 1 "" esv2496148 14 41555366 41557004 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202046 S 1 0 1 "" NA18507 esv2011237 14 41555884 41556585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986700 S 1 0 1 "" NA18507 esv4984 14 41556024 41556488 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27425 S 1 0 1 Single Asian sample YH "" YH esv1006923 14 41556079 41556393 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568822 S 3 0 1 "" HuRef esv8031 14 41556080 41556384 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30472 S 1 0 1 "" SJK esv1548875 14 41556085 41556400 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793166 S 2 0 1 "" HuRef nsv85197 14 41556086 41556400 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103775 M 24 "" nsv526260 14 41567781 41742160 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702532 S 2026 1 0 "" nsv832779 14 41577260 41758651 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450937 S 95 1 0 "" esv2595928 14 41580681 41581666 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270063 S 1 1 0 "" NA18507 esv270305 14 41580957 41581286 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558072,essv2565702,essv2540838,essv2546528,essv2525938,essv2542439,essv2568253,essv2545493,essv2570683,essv2548261,essv2576841,essv2535450,essv2553937,essv2520336,essv2547370,essv2529108,essv2558371,essv2565539,essv2520729,essv2557067,essv2569488,essv2578707,essv2558919,essv2537006,essv2569719,essv2527320,essv2561589,essv2562941,essv2542868,essv2532479,essv2570016,essv2566956,essv2542210,essv2569020,essv2543453,essv2556172,essv2562440,essv2539388,essv2522438,essv2538569,essv2574566,essv2530365,essv2571491,essv2546095,essv2574181,essv2533341,essv2554398,essv2525025 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07357,NA10851,NA11829,NA11831,NA11881,NA11918,NA11919,NA11995,NA12003,NA12044,NA12045,NA12154,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12812,NA18498,NA18501,NA18508,NA18510,NA18516,NA18517,NA18520,NA18522,NA18523,NA18532,NA18550,NA18576,NA18593,NA18853,NA18856,NA18861,NA18870,NA18871,NA18909,NA18912,NA18960,NA19108,NA19138,NA19141,NA19238,NA19239,NA19240 esv273873 14 41580959 41581198 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578945,essv2579770 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv28905 14 41616766 41617280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17423 S 451 0 1 "" NA11995 nsv901741 14 41621853 41839034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514779 S 6533 1 0 "" SP56072 dgv1896n71 14 41653922 42131247 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901743,nsv901742 M 6533 0 2 "" IS30218,MS10470 dgv246n27 14 41767756 41789491 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456229,nsv456228 M 1557 2 0 "" HGDP00561,HGDP00591 nsv470633 14 41767756 41793986 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547557,nssv547558 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00570,HGDP00591 nsv901744 14 41771676 41793987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499479 S 6533 1 0 "" SP50081 dgv1897n71 14 41789491 41887836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901745,nsv901748,nsv901746 M 6533 0 3 "" IS31137,IS31481,IS31904 nsv901747 14 41793987 41848579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504052 S 6533 0 1 "" SP52172 nsv901749 14 41793987 41989717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582374 S 6533 0 1 "" IS35911 nsv456231 14 41829855 41895862 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533594 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01188 nsv470634 14 41829855 41895862 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547559 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01188 esv2642016 14 41830515 41832056 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202245 S 1 0 1 "" NA18507 esv2371903 14 41830630 41831301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650642 S 1 0 1 "" NA18507 esv1387627 14 41869270 41869270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839674 S 2 1 0 "" HuRef nsv526503 14 41907247 41907455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702813 S 2026 0 1 "" dgv1898n71 14 41912789 42041538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901752,nsv901751,nsv901750 M 6533 0 26 "" IS40105,SP50076,SP50561,SP52331,SP52369,SP52728,SP53330,SP54189,SP54792,SP54879,SP55278,SP55407,SP55610,SP56003,SP56549,SP56640,SP56975,SP57469,SP57817,SP58209,SP58236,SP58432,SP80988,SP81099,SP81363,SP81538 dgv624e1 14 41920404 42044446 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1069,essv5878 M 271 0 0 "" NA18562,NA18990 dgv625e1 14 41920404 42078579 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2618,esv649 M 271 0 0 "" NA18990 nsv517862 14 41924173 41926726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695266 S 2026 0 1 "" nsv521740 14 41924173 41980434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694093 S 2026 0 1 "" nsv442337 14 41936937 42030401 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv85e55 14 41940713 42022300 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34833,esv34406 M 771 0 2 "" NA18562,NA18990 esv2630317 14 41948577 41950176 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350774 S 1 0 1 "" NA18507 esv1968692 14 41948715 41949319 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872908 S 1 0 1 "" NA18507 nsv85072 14 41948896 41948976 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103650 M 24 "" esv1766653 14 41949010 41949092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330605 S 2 0 1 "" HuRef nsv85330 14 41949097 41949150 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103908 M 24 "" nsv456232 14 41977197 42041592 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533595 S 1557 0 1 "" NINDS_249 nsv528376 14 41977197 42043772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704963 S 2026 0 1 "" nsv901753 14 41980434 42041538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527185 S 6533 0 1 "" SP58218 nsv9140 14 41982609 41990426 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24860,nssv19601,nssv21123,nssv24722 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA12872,NA18502,NA19132 nsv826933 14 42056411 42062724 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428634,nssv1440640,nssv1422150 M 31 0 3 "" AK10,NA18547,NA18564 nsv819994 14 42056440 42062711 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419762 S 2 1 0 "" AK1 nsv9141 14 42056485 42064286 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24736,nssv25203,nssv21574,nssv21153,nssv19505,nssv21595,nssv20886,nssv22019,nssv24915,nssv22207,nssv19822,nssv23744,nssv20252,nssv22882,nssv21176,nssv22268,nssv21320,nssv21975,nssv24718,nssv19631,nssv20844 M 31 21 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18537,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173 nsv820672 14 42056692 42062724 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421089 S 1 0 1 "" NA10851 esv22553 14 42057216 42062664 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16863 S 451 31 1 "" NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 nsv826934 14 42061604 42062635 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441471 S 31 0 1 "" NA18969 nsv901754 14 42118798 42191542 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541623 S 6533 1 0 "" MS15389 nsv901755 14 42153307 42529865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538902 S 6533 1 0 "" MS13808 nsv817627 14 42201461 42216945 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417933 S 112 1 0 "" NA18852 nsv470635 14 42210521 42280858 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547560 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00546 nsv518127 14 42232493 42275395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695545 S 2026 0 1 "" esv25382 14 42252670 42255037 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14333 S 451 0 5 "" NA18858,NA18909,NA19114,NA19190,NA19225 nsv456233 14 42257726 42273669 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533596 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 nsv901756 14 42298388 42397912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541219 S 6533 0 1 "" MS15199 nsv901757 14 42298388 43606201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579877 S 6533 0 1 "" IS35181 esv1619251 14 42311626 42311626 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591022 S 2 1 0 "" HuRef nsv832780 14 42380420 42566709 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450938 S 95 1 0 "" dgv1899n71 14 42387419 42437346 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901760,nsv901758,nsv901761 M 6533 0 3 "" IS31581,MS18847,MS18978 nsv901759 14 42387419 42582001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563325 S 6533 0 1 "" MS25963 dgv1900n71 14 42393956 42520204 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901762,nsv901763 M 6533 0 2 "" IS33763,IS41113 nsv901764 14 42398071 42424611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562100 S 6533 0 1 "" MS25373 dgv136n21 14 42402820 42405334 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523807,nsv527621 M 2026 0 2 "" nsv519996 14 42414308 42420358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697168 S 2026 0 1 "" nsv523273 14 42428932 42434852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699007 S 2026 0 1 "" nsv527004 14 42461857 42625539 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703379 S 2026 1 0 "" dgv1901n71 14 42533146 42625539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901769,nsv901765 M 6533 0 2 "" IS38591,SP52740 nsv832782 14 42540120 42689860 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450940 S 95 1 0 "" nsv901766 14 42544156 42594102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503335 S 6533 0 1 "" SP52039 esv267425 14 42548523 42548614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496849,essv2509730,essv2495608,essv2504704,essv2499020,essv2509591,essv2497035 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18916,NA19099,NA19114,NA19129,NA19190 nsv901767 14 42550233 42700567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562517 S 6533 0 1 "" MS25617 dgv1902n71 14 42555382 42614193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901774,nsv901772,nsv901773,nsv901768 M 6533 0 9 "" IS31054,IS31481,IS35196,IS38060,IS38575,IS39861,IS41948,MS15312,MS19503 nsv901770 14 42555382 42658971 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541220 S 6533 0 1 "" MS15199 dgv1903n71 14 42555382 42861687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901771,nsv901775 M 6533 0 2 "" IS31205,MS17114 nsv1255 14 42577447 42615523 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9189 S 9 0 1 "" NA12156 esv2228481 14 42619543 42619968 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782204 S 1 0 1 "" NA18507 esv1638985 14 42619752 42619827 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298327 S 2 0 1 "" HuRef esv2422268 14 42652665 43191104 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161517 S 181 1 0 "" ND01525 nsv442338 14 42665709 42669587 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv524097 14 42692502 42701235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699971 S 2026 0 1 "" dgv1904n71 14 42701235 42973173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901777,nsv901776 M 6533 0 2 "" IS33839,MS23290 esv273039 14 42738543 42738869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579382 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269630 14 42738583 42738870 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494158,essv2493197,essv2496556,essv2501158,essv2493626,essv2493968,essv2495528,essv2506948,essv2510828,essv2501745 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18510,NA18516,NA18517,NA18871,NA18916,NA19102,NA19116,NA19239 nsv817628 14 42760839 42790820 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418506,nssv1418507 M 112 0 2 "" NA19193,NA19194 nsv826935 14 42782403 42785745 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428635 S 31 0 1 "" AK10 esv268583 14 42782438 42782810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503296,essv2499984,essv2509965,essv2499290,essv2503494,essv2505456 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18558,NA18593,NA18605,NA18947,NA18952 nsv826936 14 42796649 42801156 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441472 S 31 0 1 "" NA18969 esv267632 14 42810354 42810689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544221,essv2545505,essv2519988,essv2542776,essv2540549,essv2564873,essv2560956,essv2539646,essv2549440,essv2519657,essv2522126,essv2531222,essv2532771,essv2567559,essv2541742,essv2570192,essv2553447,essv2572454,essv2533456,essv2567179,essv2527597,essv2557652,essv2531534,essv2573423,essv2525727,essv2538073,essv2525193 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11992,NA12003,NA12815,NA18550,NA18552,NA18558,NA18562,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18582,NA18592,NA18593,NA18605,NA18609,NA18944,NA18947,NA18952,NA18953,NA18961,NA18964,NA18980 nsv901778 14 42816854 43102466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551828 S 6533 0 1 "" MS18978 nsv901779 14 42826186 42943732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550863 S 6533 0 1 "" MS18620 nsv901780 14 42833014 42892349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569105 S 6533 0 1 "" IS31419 nsv527121 14 42843401 42897456 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703504 S 2026 1 0 "" nsv826937 14 42849049 42850404 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437747 S 31 0 1 "" NA18949 esv274448 14 42861442 42861648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580529,essv2579137,essv2579403 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270238 14 42861485 42861812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575814,essv2571609,essv2525241,essv2535435,essv2565215,essv2530873,essv2552548,essv2532303,essv2558869,essv2569631,essv2561374,essv2538194,essv2570344,essv2528124,essv2566483,essv2557584,essv2575697,essv2575052,essv2538835,essv2574747,essv2572825,essv2568672,essv2545049,essv2549612,essv2571369 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA11840,NA12156,NA12249,NA12812,NA12873,NA18502,NA18505,NA18516,NA18520,NA18523,NA18547,NA18593,NA18907,NA18948,NA18953,NA19099,NA19102,NA19108,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238 dgv247n27 14 42861687 42877334 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456240,nsv456242 M 1557 2 0 "" HGDP01269,HGDP01276 nsv456243 14 42861687 42892349 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533600 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01272 nsv470636 14 42861687 42915909 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547561 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01272 nsv515592 14 42861687 43318929 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670998,nssv664025,nssv677373,nssv687811,nssv658473,nssv685480,nssv660406,nssv689199,nssv659981,nssv704217 M 2026 9 1 "" dgv1905n71 14 42873231 43064535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901781,nsv901782,nsv901786 M 6533 0 3 "" IS31581,IS33530,MS10802 dgv248n27 14 42876057 43317491 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456246,nsv456247,nsv456244,nsv456245 M 1557 4 0 "" 1780854533_A,1780862300_A,HGDP01172,NINDS_9 dgv1906n71 14 42877334 43153636 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901784,nsv901783,nsv901787 M 6533 0 5 "" IS35229,MS10195,MS18598,MS22000,MS23767 esv2751276 14 42878100 43325561 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981363,essv6981364,essv6985562,essv6985563 M 771 1 0 "" BEC_395 nsv901785 14 42915909 43050453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582199 S 6533 1 0 "" IS35833 nsv456250 14 42946645 43023565 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533605 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01266 esv2065316 14 42968998 42969489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822394 S 1 0 1 "" NA18507 esv3937 14 42969128 42969317 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26378 S 1 0 1 Single Asian sample YH "" YH esv1007355 14 42969199 42969281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585813 S 3 0 1 "" HuRef nsv84786 14 42969200 42969282 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103364 M 24 "" esv1433029 14 42969207 42969290 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006487 S 2 0 1 "" HuRef nsv85592 14 42969260 42969342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104170 M 24 "" esv2076515 14 42983780 42984338 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713119 S 1 0 1 "" NA18507 dgv1907n71 14 42999532 43125289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901789,nsv901788 M 6533 0 2 "" IS31187,IS34599 nsv456251 14 43015281 43064535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533606 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00143 nsv470637 14 43125289 43175448 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547562 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00546 nsv832783 14 43129562 43288541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450941 S 95 1 0 "" nsv832784 14 43206892 43322356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450942,nssv1450943 M 95 2 0 "" nsv901790 14 43210312 43284694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520934 S 6533 0 1 "" SP51328 dgv1908n71 14 43210312 43341105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901791,nsv901792 M 6533 0 2 "" IS39011,MS18620 nsv901793 14 43244534 43316238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517980 S 6533 0 1 "" SP57418 dgv1909n71 14 43263007 43341105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901794,nsv901795,nsv901796 M 6533 0 5 "" IS31074,IS35771,IS36219,IS41113,MS15199 nsv456254 14 43274321 44062009 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533608 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FSCB HGDP00954 nsv901797 14 43306648 43389373 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593694 S 6533 1 0 "" IS39493 nsv470639 14 43389373 43820502 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547563 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00954 dgv1910n71 14 43407754 43575763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901798,nsv901801,nsv901800 M 6533 0 3 "" IS31046,IS31679,IS32150 nsv901799 14 43414282 43497568 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591769 S 6533 0 1 "" IS39011 dgv1911n71 14 43453286 43576977 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901802,nsv901806,nsv901804,nsv901803,nsv901807 M 6533 0 8 "" IS30899,IS31359,IS31369,IS33616,IS39944,MS11467,MS13154,MS15199 dgv626e1 14 43468955 43714231 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4377,essv6118,essv7091,essv2607,esv719,essv4710,essv6238,essv7723,essv2884 M 271 0 0 "" NA18532,NA18537,NA18573,NA18622,NA18633,NA18636,NA18953,NA18990 nsv9142 14 43483826 43486443 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21604 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv901805 14 43488325 43538919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588662 S 6533 0 1 "" IS38231 nsv901808 14 43488325 43639825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546231 S 6533 0 1 "" MS17114 nsv456255 14 43490337 43524894 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533609 S 1557 0 1 "" 1780854599_A nsv470640 14 43514868 43703447 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547564 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01036 nsv456256 14 43514868 43704391 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533610 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01036 dgv1912n71 14 43515660 43606201 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901809,nsv901811,nsv901812,nsv901810 M 6533 0 10 "" IS30923,IS31323,IS31879,IS33712,MS12545,MS13129,MS16898,MS22580,SP53531,SP81226 esv1454989 14 43544238 43544238 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998071 S 2 1 0 "" HuRef esv259548 14 43548496 43548887 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394156,essv2393830 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv259964 14 43548506 43548892 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398639,essv2400060,essv2398776,essv2394780,essv2398591,essv2399041,essv2400303,essv2396552,essv2399113,essv2398920,essv2400566,essv2394459,essv2400285,essv2399969,essv2396787,essv2396670,essv2400758,essv2395407,essv2397289,essv2396932,essv2398417,essv2399157,essv2400388 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA07357,NA10847,NA10851,NA11881,NA11919,NA11920,NA11995,NA12043,NA12045,NA12154,NA12156,NA12249,NA12414,NA12717,NA12749,NA12878,NA12892,NA18552,NA18609,NA18960 dgv1913n71 14 43556093 43609180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901813,nsv901814,nsv901817,nsv901816,nsv901815 M 6533 0 300 "" IS31063,IS33691,IS33702,IS34772,IS35770,IS36698,IS37040,IS37348,IS38344,IS38380,IS39473,IS40538,IS41576,IS41866,MS10074,MS10094,MS10102,MS10193,MS10249,MS10283,MS10291,MS10375,MS10517,MS10666,MS10720,MS10739,MS10807,MS10897,MS11022,MS11181,MS11326,MS11451,MS11525,MS11554,MS11609,MS11693,MS11836,MS11883,MS11919,MS11923,MS11934,MS11971,MS12103,MS12211,MS12331,MS12497,MS12520,MS12564,MS12648,MS12662,MS12780,MS12946,MS12996,MS13230,MS13254,MS13336,MS13362,MS13379,MS13383,MS13871,MS13918,MS13957,MS14010,MS14101,MS14304,MS14305,MS14313,MS14318,MS14326,MS14396,MS14516,MS14644,MS14761,MS14779,MS14786,MS14971,MS15060,MS15097,MS15167,MS15398,MS15511,MS15672,MS15753,MS15817,MS15834,MS15940,MS15991,MS15997,MS16008,MS16074,MS16126,MS16206,MS16209,MS16214,MS16325,MS16376,MS16393,MS16399,MS16544,MS16591,MS16611,MS16707,MS16708,MS17085,MS17224,MS17394,MS17492,MS17599,MS17755,MS17798,MS17802,MS17830,MS17913,MS18149,MS18255,MS18392,MS18479,MS18484,MS18510,MS18715,MS18740,MS18848,MS18876,MS18933,MS18976,MS19135,MS19304,MS19321,MS19843,MS20239,MS20359,MS20510,MS20681,MS20828,MS21117,MS21216,MS21258,MS21290,MS21442,MS21491,MS21517,MS21628,MS21649,MS21730,MS21732,MS21789,MS21863,MS21986,MS22707,MS22764,MS22993,MS23117,MS23191,MS23210,MS23212,MS23376,MS23401,MS23472,MS23487,MS23579,MS23626,MS23697,MS23720,MS23725,MS23798,MS23889,MS23957,MS24052,MS24098,MS24280,MS24426,MS24479,MS24503,MS24622,MS24692,MS24837,MS25177,MS25193,MS25219,MS25327,MS25486,MS25564,MS25648,MS25674,MS25696,MS25703,MS25734,MS25747,MS25798,MS25833,MS25842,MS25870,MS25966,MS25968,MS26145,SP50076,SP50080,SP50091,SP50644,SP50672,SP50713,SP50828,SP51063,SP51134,SP51280,SP51297,SP52253,SP52256,SP52341,SP52419,SP52428,SP52430,SP52438,SP52574,SP52594,SP52634,SP52692,SP52704,SP52721,SP52740,SP52800,SP52859,SP52902,SP53051,SP53147,SP53251,SP53451,SP53493,SP53513,SP53516,SP53550,SP53625,SP53776,SP54030,SP54072,SP54087,SP54177,SP54216,SP54312,SP54857,SP54913,SP54952,SP55055,SP55092,SP55126,SP55179,SP55290,SP55473,SP55494,SP55500,SP55513,SP56418,SP56513,SP56539,SP56542,SP56708,SP56773,SP56936,SP56957,SP57044,SP57158,SP57174,SP57564,SP57665,SP57670,SP57700,SP57831,SP57951,SP57965,SP58062,SP58164,SP58180,SP58208,SP58240,SP58310,SP58328,SP58467,SP80931,SP80938,SP80961,SP80971,SP81077,SP81107,SP81172,SP81188,SP81202,SP81212,SP81238,SP81326,SP81339,SP81388,SP81422,SP81452,SP81461,SP81485,SP81488,SP81501,SP81512,SP81557,SP81566 dgv249n27 14 43556093 43609467 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456258,nsv456257,nsv456259 M 1557 0 3 "" 1780862404_A,HGDP00711,HGDP00781 dgv627e1 14 43558078 43606626 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6489,essv6440,essv3832 M 271 0 0 "" NA18592,NA18636,NA18953 dgv1914n71 14 43568561 43606201 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901822,nsv901820,nsv901821,nsv901818 M 6533 0 84 "" SP50023,SP50029,SP50035,SP50043,SP50098,SP50171,SP50571,SP50574,SP50593,SP50882,SP50942,SP50943,SP50973,SP50984,SP51022,SP51030,SP51040,SP51057,SP51082,SP51109,SP51281,SP51338,SP51439,SP51469,SP51485,SP51506,SP52008,SP52027,SP52053,SP52114,SP52559,SP52676,SP53302,SP53333,SP53473,SP53990,SP54095,SP54367,SP54370,SP54477,SP54510,SP54581,SP54591,SP54648,SP54673,SP54750,SP54753,SP54792,SP55019,SP55355,SP55557,SP55597,SP55670,SP55684,SP55690,SP55692,SP55795,SP55804,SP55864,SP55966,SP56064,SP56173,SP56213,SP56223,SP56313,SP56834,SP56861,SP56886,SP57078,SP57226,SP57243,SP57254,SP57306,SP57328,SP57341,SP57410,SP57481,SP57551,SP57599,SP57669,SP57672,SP57905,SP81010,SP81067 nsv901819 14 43569698 43594119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506305 S 6533 0 1 "" SP54189 dgv628e1 14 43570867 43600178 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5981,essv4343,essv7505 M 271 0 0 "" NA18532,NA18552,NA18622 esv2421330 14 43570867 43600472 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5087262,essv5114345,essv5018963,essv5155467,essv5081731,essv5072452,essv5136705,essv5045980,essv5077385,essv5046596,essv5087543,essv5065414,essv5079273,essv5100820,essv5105501,essv5053267,essv5065208,essv5054242,essv5125004,essv5036417,essv5139765,essv5108260,essv5083957,essv5015459,essv5129810,essv5055514,essv5061475,essv5129580,essv5145277,essv5132861,essv5025631,essv5002991,essv5119556,essv5065743,essv5132083,essv5127652,essv5097961,essv5154582,essv5140998,essv5131105,essv5158784,essv5135463,essv5069843 M 1184 0 43 "" NA17974,NA17980,NA17982,NA17997,NA17999,NA18101,NA18109,NA18139,NA18153,NA18158,NA18166,NA18532,NA18537,NA18543,NA18544,NA18548,NA18552,NA18573,NA18592,NA18596,NA18622,NA18633,NA18636,NA18642,NA18647,NA18940,NA18953,NA18962,NA18963,NA18990,NA19079,NA19084,NA19088,NA19654,NA19656,NA19670,NA19671,NA19676,NA19677,NA19725,NA19770,NA20300,NA20809 dgv629e1 14 43570867 43608847 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4937,essv6098,essv7475,essv702,essv1082 M 271 0 0 "" NA18537,NA18573,NA18633,NA18940,NA18990 nsv9143 14 43571042 43606069 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22005,nssv21136 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18537,NA18552 dgv372n67 14 43571314 43605903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826938,nsv826940,nsv826939 M 31 0 5 "" AK6,AK8,NA18537,NA18552,NA18592 nsv442685 14 43571678 43600205 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514741 14 43571712 43595376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628209 S 1414 0 1 "" dgv250n27 14 43575763 43600472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456260,nsv456261 M 1557 0 2 "" 1780862160_A,HGDP00708 nsv515917 14 43575763 43600472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674702,nssv665306,nssv687931,nssv688444,nssv657475,nssv680392,nssv661037,nssv676445 M 2026 0 8 "" nsv817630 14 43575763 43600472 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417443,nssv1417119 M 112 0 2 "" NA18537,NA18953 nsv901823 14 43584372 43786417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596521 S 6533 0 1 "" IS40556 esv271431 14 43592035 43592359 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558144,essv2521308,essv2542455,essv2536666,essv2522796,essv2543890,essv2568403,essv2545572,essv2577300,essv2548605,essv2521766,essv2576701,essv2550846,essv2525245,essv2535430,essv2554234,essv2544317,essv2551974,essv2547594,essv2529092,essv2564225,essv2555106,essv2530839,essv2537645,essv2546946,essv2538929,essv2561519,essv2519925,essv2567332,essv2570190,essv2535657,essv2572231,essv2559155,essv2573498,essv2560592,essv2524290,essv2568782,essv2536059,essv2532949,essv2547835,essv2525060,essv2563373 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA07357,NA10847,NA10851,NA11894,NA11919,NA11920,NA11931,NA11992,NA11995,NA12003,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12828,NA12872,NA12873,NA12878,NA12892,NA18519,NA18523,NA18566,NA18582,NA18593,NA18608,NA18609,NA18638,NA18964,NA19116,NA19129,NA19147 esv274208 14 43592038 43592362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582128,essv2582854 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv901824 14 43616333 43700245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533451,nssv1554932,nssv1561591,nssv1538805,nssv1544795,nssv1548236,nssv1551637 M 6533 0 7 "" MS11191,MS13771,MS16506,MS17760,MS18959,MS21100,MS25112 nsv527306 14 43639825 43640545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703726 S 2026 0 1 "" nsv523830 14 43648225 43656614 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699661 S 2026 1 0 "" nsv901825 14 43665096 44017413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583627 S 6533 0 1 "" IS36552 nsv901826 14 43682445 43767537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546232,nssv1572954 M 6533 0 2 "" IS33196,MS17114 nsv442339 14 43688705 43691381 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv510634 14 43721748 43780124 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618915 S 4 0 1 "" NA10860 esv275544 14 43737084 43737507 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585948 S 1250 0 1 "" esv2422320 14 43744365 43863188 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161338 S 181 1 0 "" ND04498 nsv1256 14 43762662 43795865 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9190 S 9 1 0 "" NA12156 nsv511034 14 43780124 43820150 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618624 S 4 0 0 "" CHM esv27897 14 43784212 43790756 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9928 S 451 0 2 "" NA11995,NA12749 nsv901827 14 43885737 43966684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579773 S 6533 1 0 "" IS35179 nsv516337 14 43885737 44000644 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702032,nssv662599,nssv700985,nssv682921,nssv667676 M 2026 4 1 "" dgv1915n71 14 43889940 44000644 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901830,nsv901828,nsv901829 M 6533 3 0 "" IS35895,IS36899,IS40854 nsv470641 14 43889940 44000644 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547565,nssv547566 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01263,HGDP01305 dgv251n27 14 43889940 44018211 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456271,nsv456265,nsv456264,nsv456267 M 1557 4 0 "" HGDP00802,HGDP01263,HGDP01305,NINDS_256 nsv511036 14 43890292 43935940 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624346 S 4 0 0 "" NA18994 nsv901831 14 43891878 44062009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579554 S 6533 1 0 FSCB IS35129 esv2751277 14 43894624 44004257 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983220,essv6986374 M 771 1 0 "" BEC_557 nsv456272 14 43906815 43983784 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533621 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00155 nsv901832 14 43917194 44485347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509265 S 6533 0 1 C14orf28,FSCB,KLHL28 SP54774 nsv1257 14 43954142 43986097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1189 S 9 1 0 "" NA19240 esv2477483 14 43955914 43956855 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344603 S 1 1 0 "" NA18507 nsv901833 14 44001343 44098481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540999,nssv1545319 M 6533 0 2 FSCB MS15145,MS16711 nsv456273 14 44020636 44076228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533622 S 1557 0 1 FSCB 1780854464_A nsv901834 14 44076228 44191674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562545 S 6533 0 1 "" MS25627 esv2638050 14 44083500 44084212 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186571 S 1 1 0 "" NA18507 esv269649 14 44083792 44083877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517374,essv2514163,essv2516566,essv2515765,essv2514219,essv2517661,essv2513852,essv2518336,essv2519450,essv2513627 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11918,NA12043,NA12814,NA12815,NA12874,NA12878,NA19143,NA19240 esv273468 14 44083792 44083877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581561,essv2581290 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv901835 14 44101785 44178108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591115 S 6533 0 1 "" IS38637 dgv10e196 14 44102541 44178616 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422199,esv2422363 M 181 0 2 "" ND01583,ND02258 nsv522788 14 44113678 44135783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698432 S 2026 0 1 "" nsv901836 14 44124527 44353449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501263 S 6533 0 1 "" SP50882 dgv630e1 14 44127583 44383416 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv754,essv21133 M 271 0 0 "" NA12815 nsv901837 14 44130367 44191674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583967 S 6533 0 1 "" IS36752 nsv517384 14 44130367 44320168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660174,nssv681906,nssv693431,nssv702630,nssv669172,nssv671146,nssv666920,nssv668077,nssv655469,nssv674528,nssv651867,nssv683397,nssv705941,nssv686927 M 2026 0 14 "" nsv901838 14 44138999 44366800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499149 S 6533 1 0 "" SP50148 dgv252n27 14 44154542 44271294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456275,nsv456276 M 1557 0 2 "" 1780862584_A,1798860587_A nsv901839 14 44199614 44251087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561836 S 6533 0 1 "" MS25250 essv22024 14 44239152 44324634 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv901840 14 44242492 44301758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572413 S 6533 0 1 "" IS33040 esv33647 14 44251850 44292321 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96778,essv100037 M 51 0 2 "" 21659,22086 dgv253n27 14 44254784 44278526 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456280,nsv456279,nsv456278 M 1557 0 3 "" 1780862226_A,1798860565_A,NINDS_39 nsv901841 14 44267946 44789393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579878 S 6533 0 1 C14orf28,FAM179B,FANCM,FKBP3,KLHL28,MIS18BP1,PRPF39,SNORD127 IS35181 esv22579 14 44399029 44404846 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13142 S 451 1 0 "" NA15510 nsv1258 14 44410479 44443096 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5498 S 9 1 0 C14orf28 NA19129 esv1419877 14 44455644 44455644 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053116 S 2 1 0 "" HuRef nsv819173 14 44465352 44465942 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419016 S 2 0 1 KLHL28 AK1 nsv1259 14 44489073 44514410 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9191 S 9 0 1 FAM179B,KLHL28 NA12156 nsv1260 14 44527416 44572421 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9192 S 9 0 1 FAM179B NA12156 esv2505295 14 44567547 44569120 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240146 S 1 0 1 FAM179B NA18507 nsv901842 14 44576607 44783108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544511 S 6533 0 1 FAM179B,FANCM,FKBP3,MIS18BP1,PRPF39,SNORD127 MS16361 nsv901843 14 44576607 44903240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589192 S 6533 1 0 FAM179B,FANCM,FKBP3,MIS18BP1,PRPF39,SNORD127 IS38309 nsv832785 14 44590420 44780491 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450944 S 95 0 1 FAM179B,FANCM,FKBP3,MIS18BP1,PRPF39,SNORD127 nsv826941 14 44666447 44667028 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437005,nssv1432394 M 31 0 2 FKBP3 AK20,NA18542 nsv901844 14 44676037 45133481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526063 S 6533 0 1 FANCM,MIS18BP1 SP56986 esv23137 14 44680868 44682602 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20586 S 451 0 1 FANCM NA18909 nsv901845 14 44688967 44842660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583980 S 6533 0 1 FANCM,MIS18BP1 IS36766 nsv901846 14 44772108 44853296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521181 S 6533 0 1 MIS18BP1 SP52264 dgv631e1 14 44775832 45052160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10891,esv684 M 271 0 0 MIS18BP1 NA19209 nsv527140 14 44817996 44853296 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703528 S 2026 0 1 "" nsv456281 14 44839108 44977742 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533629 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00920 nsv85697 14 44855037 44855099 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104275 M 24 "" nsv516970 14 44867532 45064383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653535,nssv674084,nssv693660,nssv654471,nssv679992,nssv673532,nssv689259,nssv668810,nssv680739,nssv702850,nssv665409,nssv682592,nssv687442,nssv686760,nssv663519,nssv670418,nssv671470,nssv659710,nssv672068 M 2026 0 19 "" nsv901847 14 44867532 45677649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578404 S 6533 0 1 "" IS34770 esv268682 14 44867569 44867654 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518579 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 dgv632e1 14 44871455 45052160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7917,essv8703,essv8914,essv10857,essv8024 M 271 0 0 "" NA18871,NA19200,NA19209 esv28405 14 44890953 45090484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20419 S 451 0 1 "" NA18907 esv2422164 14 44892087 45085468 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5044303,essv5122996,essv5155490,essv5149614,essv5124914,essv5078166,essv5146559,essv5145505,essv5052516,essv5126533,essv5082357,essv5086184,essv5144396,essv5122851,essv5141057 M 1184 0 15 "" NA18871,NA18910,NA18911,NA18933,NA18935,NA19149,NA19151,NA19185,NA19200,NA19209,NA19469,NA19473,NA19701,NA19702,NA21423 nsv442340 14 44895806 45085468 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514742 14 44897488 45077316 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628210 S 1414 0 0 "" esv268356 14 44897828 44897947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511189,essv2510353,essv2511827,essv2493706,essv2498505,essv2505948,essv2513277,essv2502447,essv2512316,essv2493117,essv2502637,essv2500718,essv2506740,essv2499103,essv2499712,essv2502171,essv2495783,essv2511475,essv2499542 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07357,NA11931,NA12414,NA18499,NA18517,NA18858,NA18861,NA18907,NA18948,NA18949,NA18951,NA18965,NA18973,NA19108,NA19114,NA19225,NA19257 dgv86e55 14 44898979 45041032 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34429,esv34988 M 771 0 2 "" NA18871,NA19209 nsv470642 14 44912037 45064384 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547570,nssv547568,nssv547569,nssv547572,nssv547571 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00918,HGDP00920,HGDP00921,HGDP00938,HGDP01034 esv2422441 14 44918600 45395434 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161349 S 181 1 0 "" ND03123 esv1400059 14 44928893 44928946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338336 S 2 0 1 "" HuRef esv2257017 14 44957738 44958400 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808273 S 1 0 1 "" NA18507 esv9343 14 44975154 44975253 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31784 S 1 1 0 "" SJK nsv1261 14 44975886 44980488 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9193 S 9 1 0 "" NA12156 nsv1262 14 44998235 45042672 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4633 S 9 0 1 "" NA19129 dgv1916n71 14 45002265 45094425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901848,nsv901849 M 6533 0 2 "" IS35053,SP55690 nsv901850 14 45064383 45150822 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545871 S 6533 1 0 "" MS17014 nsv456282 14 45094425 45528446 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533630 S 1557 1 0 "" NINDS_136 dgv633e1 14 45120624 45190488 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7919,esv1207 M 271 0 0 "" NA19209 nsv9144 14 45139773 45147481 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21947,nssv21166 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563 nsv456283 14 45217191 45250710 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533631 S 1557 0 1 "" 1780854117_A dgv1917n71 14 45254345 45431634 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901851,nsv901852 M 6533 0 2 "" SP51355,SP55789 nsv518816 14 45287399 45478093 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696269 S 2026 1 0 "" nsv832786 14 45348803 45497527 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450948,nssv1450947,nssv1450945,nssv1450946 M 95 4 0 "" esv2527042 14 45352585 45374218 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370749 S 1 0 1 "" NA18507 esv29333 14 45390493 45391024 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18575 S 451 1 0 "" NA18517 nsv456284 14 45417055 45474925 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533632 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01098 dgv1918n71 14 45431634 45486743 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901857,nsv901853 M 6533 0 2 "" SP55878,SP57469 nsv901854 14 45431634 45528446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557546,nssv1538283 M 6533 2 0 "" MS13567,MS22748 nsv901855 14 45431634 45618062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565615 S 6533 0 1 "" IS30483 nsv516946 14 45431634 45723621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677124,nssv653596,nssv664121,nssv675162,nssv696827,nssv676320,nssv679111,nssv686201,nssv661900,nssv687322,nssv686639,nssv665094,nssv660536,nssv660928,nssv664160,nssv696229,nssv702268,nssv651936,nssv687172,nssv681390,nssv653389,nssv660380,nssv668811,nssv678368,nssv690796,nssv674020,nssv663777,nssv705691,nssv675334,nssv684020,nssv689213,nssv653482,nssv670042,nssv700882,nssv685291 M 2026 0 35 "" nsv901856 14 45441090 45469324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514463 S 6533 0 1 "" SP56004 esv269613 14 45461659 45461744 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515478 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv901858 14 45505649 45723621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590570,nssv1589691,nssv1596387 M 6533 0 3 "" IS38399,IS38535,IS40502 dgv254n27 14 45528446 45642242 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456287,nsv456286 M 1557 0 2 "" 1780854302_A,HGDP00070 nsv470643 14 45528446 45694129 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547573 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00070 nsv85008 14 45550219 45550275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103586 M 24 "" nsv901859 14 45573872 45767806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535643 S 6533 0 1 "" MS12347 nsv470644 14 45573872 45869740 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547574 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 esv2545330 14 45575284 45576778 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199448 S 1 0 1 "" NA18507 nsv456288 14 45601722 45869740 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533636 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 esv2556378 14 45646921 45648572 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194689 S 1 0 1 "" NA18507 esv2081136 14 45647478 45648194 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883125 S 1 0 1 "" NA18507 esv2904 14 45647641 45648143 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25345 S 1 0 1 Single Asian sample YH "" YH esv1437340 14 45647688 45648008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712996 S 2 0 1 "" HuRef nsv456290 14 45656533 45729224 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533637 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00125 esv21598 14 45658766 45660834 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16362 S 451 0 2 "" NA18508,NA18907 nsv817631 14 45671842 45677824 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416139,nssv1416868 M 112 0 2 "" NA19140,NA19239 esv2421435 14 45671842 45678725 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018945,essv5054014,essv5068829,essv5132857,essv5021964,essv5103314,essv5071497,essv5120516,essv5051166,essv5016101,essv5021980,essv5076738,essv5023904,essv5054931,essv5050967,essv5042719,essv5073004,essv5041998,essv5115025,essv5098794,essv5118059,essv5033754,essv5104508 M 1184 0 23 "" NA18485,NA18487,NA18873,NA18874,NA18875,NA19140,NA19178,NA19180,NA19239,NA19391,NA19393,NA19703,NA20281,NA20300,NA20317,NA20356,NA20357,NA20358,NA21361,NA21435,NA21634,NA21636,NA21647 nsv826943 14 45699292 45699830 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426110 S 31 0 1 "" AK4 nsv470645 14 45729224 45943525 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547575,nssv547576 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876,HGDP00890 nsv456291 14 45742385 45829318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533638 S 1557 0 1 "" NINDS_114 esv2751278 14 45788000 46295641 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985771,essv6985770,essv6985772,essv6985773,essv6987254 M 771 1 0 RPL10L SPC_43 nsv525044 14 45802088 45846959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701088 S 2026 0 1 "" nsv517763 14 45820357 45829318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653152,nssv661511,nssv668228,nssv693544,nssv659084,nssv673989,nssv661599,nssv679559,nssv685556,nssv670908,nssv655326,nssv662620,nssv678453,nssv670309,nssv686309 M 2026 0 15 "" nsv518556 14 45846959 45865526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695999 S 2026 0 1 "" nsv832787 14 45849446 46005186 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450951,nssv1450949 M 95 1 1 "" dgv634e1 14 45863402 46018276 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3056,esv248 M 271 0 0 "" NA18981 dgv1919n71 14 45867103 45952141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901865,nsv901860 M 6533 0 2 "" IS31758,IS35771 nsv901861 14 45867103 45983652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566180,nssv1585039 M 6533 0 2 "" IS30597,IS37226 dgv1920n71 14 45867103 46195273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901870,nsv901862 M 6533 0 2 RPL10L IS33196,MS22008 nsv901863 14 45867103 46317149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591770 S 6533 0 1 RPL10L IS39011 nsv511037 14 45874254 45892002 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618673 S 4 0 0 "" CHM nsv901864 14 45877548 45975802 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561878 S 6533 1 0 "" MS25275 nsv1263 14 45880874 45908320 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6592 S 9 1 0 "" NA12156 dgv1921n71 14 45882211 45983652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901868,nsv901869,nsv901866,nsv901867 M 6533 0 7 "" IS32166,IS34758,IS37428,IS38207,IS41862,IS41964,MS18742 nsv509532 14 45892002 45892002 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621000 S 4 1 0 "" NA15510 nsv520141 14 45918391 45943526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681460,nssv686351,nssv661142 M 2026 0 3 "" nsv901871 14 45939547 46031072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588663 S 6533 0 1 "" IS38231 nsv1264 14 45980155 45998516 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9505 S 9 1 0 "" NA18507 nsv901872 14 46003134 46076639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554216 S 6533 0 1 "" MS20670 nsv9145 14 46003423 46005888 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22059,nssv21625 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12740,NA18980 esv1555873 14 46043746 46043746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670881 S 2 1 0 "" HuRef nsv517764 14 46152755 46489617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694930,nssv661651,nssv696911,nssv653154 M 2026 0 4 MDGA2,RPL10L nsv901873 14 46206341 46436090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582375 S 6533 0 1 MDGA2 IS35911 nsv507745 14 46274864 46280864 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623168,nssv619128,nssv617883,nssv620561 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv901874 14 46306014 46446952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551829,nssv1598891 M 6533 0 2 MDGA2 IS41113,MS18978 nsv817632 14 46317149 46436090 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416395 S 112 0 1 MDGA2 NA18855 nsv456294 14 46323755 46465551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533639 S 1557 0 1 MDGA2 NINDS_95 nsv832788 14 46327063 46462626 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450952 S 95 1 0 MDGA2 dgv1922n71 14 46337402 46446952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901880,nsv901877,nsv901875 M 6533 0 8 MDGA2 IS31074,IS36219,IS39944,MS17611,MS18648,MS18847,MS20872,SP56185 dgv1923n71 14 46337402 46518989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901879,nsv901878,nsv901881,nsv901876 M 6533 0 6 MDGA2 IS40067,MS14495,MS17114,MS22104,MS23670,SP54030 dgv255n27 14 46403821 46474814 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456298,nsv456297 M 1557 0 2 MDGA2 HGDP00580,HGDP00741 nsv901882 14 46428286 46465551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513348 S 6533 0 1 MDGA2 SP55747 dgv1924n71 14 46456191 46605667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901884,nsv901883 M 6533 0 2 MDGA2 MS18843,MS25963 nsv901885 14 46487897 46571091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597079 S 6533 0 1 MDGA2 IS40729 esv9641 14 46503812 46504214 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32082 S 1 0 1 MDGA2 SJK esv267565 14 46505688 46505946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2561895,essv2529044,essv2530160,essv2522458,essv2543097,essv2576980 M 157 6 0 Samples from several populations that are part of the HapMap project. MDGA2 NA12874,NA18579,NA18949,NA18960,NA18965,NA18970 nsv456299 14 46522803 46571091 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533643 S 1557 0 1 MDGA2 NINDS_127 nsv456300 14 46550000 46580516 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533644 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MDGA2 HGDP00472 nsv901886 14 46551647 46605667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522102 S 6533 0 1 MDGA2 SP52723 nsv507746 14 46585399 46591399 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620562,nssv623169 M 4 2 0 MDGA2 NA15510,NA18994 dgv1925n71 14 46651013 46763911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901889,nsv901888,nsv901887 M 6533 0 3 MDGA2 IS35181,MS15199,MS17611 nsv456301 14 46659144 46720671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533645 S 1557 0 1 MDGA2 NINDS_178 dgv1926n71 14 46663849 46799461 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901892,nsv901890 M 6533 0 3 MDGA2 IS30597,IS36219,IS40067 dgv1927n71 14 46690298 46785259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901893,nsv901891 M 6533 0 2 MDGA2 MS15312,MS15749 nsv515585 14 46709025 46722971 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661999,nssv686310,nssv693188,nssv651875 M 2026 2 2 MDGA2 nsv456302 14 46720671 46785371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533646 S 1557 0 1 MDGA2 1798860114_A nsv517616 14 46744261 46747936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652685,nssv652528,nssv685940,nssv660087,nssv669473,nssv663982,nssv685794,nssv660989,nssv661576,nssv654608,nssv679824,nssv656932,nssv684863,nssv684472,nssv704375,nssv661440,nssv677403,nssv687103,nssv679294,nssv670630,nssv684969,nssv664650,nssv654355,nssv656726,nssv683126,nssv678927,nssv697210 M 2026 0 27 MDGA2 esv27946 14 46777341 46787593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10012 S 451 0 1 MDGA2 NA11894 nsv456303 14 46778147 46785371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533647 S 1557 0 1 MDGA2 1782681247_A nsv517301 14 46778147 46785371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680667,nssv657219,nssv669424,nssv685531,nssv656327,nssv681299,nssv667840,nssv661857,nssv667706,nssv685635,nssv676337,nssv654254,nssv667378,nssv675521,nssv657635,nssv664104,nssv660752,nssv669795,nssv657476,nssv677692,nssv661120,nssv673844,nssv661197,nssv664454,nssv654992,nssv661978,nssv676375,nssv655258,nssv656159,nssv680644,nssv663641,nssv670585,nssv689236,nssv683974,nssv674195,nssv655029,nssv669900,nssv654801,nssv684882,nssv681329,nssv682318,nssv670283,nssv673048,nssv658593,nssv663941 M 2026 0 45 MDGA2 nsv510378 14 46780233 46786233 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618402,nssv622248 M 4 0 2 MDGA2 CHM,NA10860 nsv525101 14 46800704 46816730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701160 S 2026 0 1 MDGA2 nsv1266 14 46829209 46853173 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10015 S 9 1 0 MDGA2 NA18956 nsv826944 14 46855072 46869596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433168 S 31 0 1 MDGA2 NA18972 esv274608 14 46905813 46906153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578962 S 7 1 0 Samples from several populations that are part of the HapMap project. MDGA2 NA19239 esv271732 14 46905821 46906159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565581,essv2541040,essv2546408,essv2536564,essv2568316,essv2525330,essv2535082,essv2578027,essv2559648,essv2554862,essv2530552,essv2537647,essv2546940,essv2520982,essv2557243,essv2552494,essv2532433,essv2562620,essv2536840,essv2538890,essv2569723,essv2527241,essv2541906,essv2550961,essv2543585,essv2527920,essv2562181,essv2575279,essv2538669,essv2524246,essv2572743,essv2545124,essv2549860,essv2571230,essv2546032,essv2537814,essv2554519,essv2547858,essv2524861 M 157 39 0 Samples from several populations that are part of the HapMap project. MDGA2 NA07000,NA07346,NA07347,NA07357,NA11829,NA11831,NA11881,NA11920,NA11995,NA12156,NA12249,NA12761,NA12776,NA12872,NA12873,NA12878,NA12892,NA18498,NA18501,NA18502,NA18505,NA18507,NA18517,NA18519,NA18520,NA18522,NA18856,NA18858,NA18870,NA18907,NA18909,NA19102,NA19108,NA19129,NA19143,NA19172,NA19225,NA19238,NA19239 esv1685716 14 46905844 46905844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624737 S 2 1 0 MDGA2 HuRef nsv901894 14 47045511 47111458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516992 S 6533 0 1 MDGA2 SP57020 esv2601245 14 47051447 47052295 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318077 S 1 1 0 MDGA2 NA18507 esv269991 14 47051862 47052220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503054,essv2509700,essv2501161,essv2493616,essv2493911,essv2513479,essv2509187,essv2507380,essv2501290,essv2504657,essv2506631,essv2499106,essv2497661 M 157 13 0 Samples from several populations that are part of the HapMap project. MDGA2 NA18507,NA18508,NA18516,NA18517,NA18871,NA18907,NA18909,NA18912,NA19093,NA19099,NA19108,NA19114,NA19147 esv269528 14 47187587 47190369 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508727,essv2500377,essv2494594,essv2497837,essv2508251,essv2499911,essv2506348,essv2500075,essv2507625,essv2499275,essv2511674,essv2512290,essv2493070,essv2509395,essv2497414,essv2502646,essv2500768 M 157 17 0 Samples from several populations that are part of the HapMap project. MDGA2 NA18532,NA18537,NA18550,NA18555,NA18561,NA18562,NA18566,NA18573,NA18576,NA18605,NA18940,NA18949,NA18951,NA18953,NA18959,NA18965,NA18973 nsv456304 14 47241080 47267409 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533648 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01368 dgv1928n71 14 47249840 47333800 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901895,nsv901896 M 6533 0 2 LOC100506433,MIR548Y IS33605,MS17114 esv2421510 14 47301717 47347201 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083268,essv5093372,essv5117092,essv5134158,essv5092461,essv5031252,essv5120465,essv5050747,essv5116745,essv5040839,essv5097327,essv5032597,essv5034911,essv5124942,essv5045575,essv5115898 M 1184 0 16 LOC100506433 NA12335,NA12341,NA19391,NA19436,NA19982,NA19983,NA20317,NA20319,NA20768,NA21308,NA21457,NA21513,NA21514,NA21520,NA21613,NA21686 nsv456305 14 47314308 47347072 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533649 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506433 HGDP00244 nsv515689 14 47319952 47347072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704807,nssv693778,nssv703947,nssv673158,nssv664426,nssv692818 M 2026 0 6 LOC100506433 dgv635e1 14 47329907 47516073 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv305,essv15123 M 271 0 0 LOC100506433 NA19129 dgv1929n71 14 47333800 47485951 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901899,nsv901901,nsv901897,nsv901900,nsv901898 M 6533 9 0 LOC100506433 SP51261,SP52052,SP52432,SP52440,SP53320,SP55355,SP56777,SP81132,SP81365 nsv518404 14 47350032 47488909 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695835 S 2026 1 0 "" nsv9146 14 47364221 47374206 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25228,nssv22237,nssv22911 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA11830,NA18860,NA19144 esv23576 14 47373606 47379344 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12184 S 451 0 3 "" NA18502,NA18505,NA19114 nsv456306 14 47376530 47416278 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533650 S 1557 1 0 "" 1780854205_A nsv9148 14 47402773 47404341 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19459 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 esv5416 14 47403947 47404360 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27857 S 1 0 1 Single Asian sample YH "" YH esv995377 14 47403951 47404672 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565147 S 3 0 1 "" HuRef esv5631 14 47403984 47404373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28072 S 1 0 1 "" SJK nsv85272 14 47403992 47404306 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103850 M 24 "" esv994467 14 47403998 47404312 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581628 S 3 0 1 "" HuRef esv1727401 14 47404005 47404320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208817 S 2 0 1 "" HuRef nsv516947 14 47449151 47472679 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672308,nssv653483,nssv668542,nssv684952,nssv687131 M 2026 3 2 "" nsv901902 14 47520274 47933072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584928 S 6533 0 1 "" IS37194 nsv901903 14 47524432 47549498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533392 S 6533 1 0 "" MS11157 dgv1930n71 14 47524432 47579778 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901915,nsv901904 M 6533 9 0 "" MS12572,MS13444,MS14824,MS18432,MS19267,MS21163,MS21868,MS23720,SP57803 dgv1931n71 14 47529415 47550750 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901910,nsv901914,nsv901906,nsv901912,nsv901908,nsv901907,nsv901905,nsv901911,nsv901913,nsv901909 M 6533 85 0 "" MS10061,MS10177,MS10291,MS10362,MS10875,MS11032,MS11135,MS11454,MS11722,MS12103,MS12129,MS12406,MS12461,MS12482,MS12856,MS13002,MS13019,MS13050,MS13058,MS13362,MS13469,MS13490,MS13629,MS13770,MS14938,MS14971,MS15041,MS15242,MS15576,MS15707,MS15997,MS16008,MS16160,MS16211,MS16228,MS16252,MS16357,MS16436,MS16708,MS16786,MS16837,MS16981,MS17164,MS17278,MS17798,MS17802,MS18077,MS18190,MS18325,MS18326,MS18348,MS18819,MS18829,MS19140,MS19700,MS19923,MS20009,MS20288,MS20543,MS21340,MS21442,MS21649,MS21789,MS21924,MS21925,MS22492,MS22608,MS22848,MS22962,MS23767,MS23791,MS24003,MS24101,MS24427,MS24459,MS25414,MS25745,SP52721,SP54468,SP56125,SP56938,SP57950,SP58467,SP81347,SP81399 esv271102 14 47533261 47533346 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515603 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 dgv1932n71 14 47535588 47550750 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901924,nsv901919,nsv901921,nsv901920,nsv901925,nsv901923,nsv901922,nsv901916,nsv901918,nsv901917 M 6533 20 0 "" MS10060,MS10249,MS10871,MS14755,MS15337,MS15682,MS15709,MS15972,MS16325,MS16859,MS17237,MS17492,MS17522,MS18256,MS18853,MS19458,MS22930,MS23123,MS23770,MS25244 dgv256n27 14 47535588 47581101 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456309,nsv456310,nsv456308 M 1557 3 0 "" HGDP00711,HGDP00717,HGDP01323 nsv470646 14 47535588 47581101 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547580,nssv547577 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00711,HGDP01323 nsv817633 14 47536798 47544577 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416396 S 112 0 1 "" NA18855 nsv456311 14 47536798 47548946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533655 S 1557 0 1 "" 1780862432_A nsv832789 14 47542813 47733217 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450953,nssv1450954,nssv1450955 M 95 2 1 "" esv1960219 14 47623695 47624107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798288 S 1 0 1 "" NA18507 nsv901926 14 47642382 47690870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572956 S 6533 0 1 "" IS33196 nsv456312 14 47645873 47654294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533656 S 1557 0 1 "" NINDS_27 nsv901927 14 47651522 47743544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594661 S 6533 0 1 "" IS39991 nsv84804 14 47651906 47651906 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103382 M 24 "" nsv526566 14 47654294 47659065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702882 S 2026 0 1 "" esv2503880 14 47696232 47697681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332235 S 1 0 1 "" NA18507 nsv901928 14 47703165 47765813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521796 S 6533 1 0 "" SP52579 nsv507747 14 47727685 47733685 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619129 S 4 1 0 "" NA10860 nsv516268 14 47760979 47771144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667197,nssv657531,nssv660269,nssv676893 M 2026 0 4 "" nsv826945 14 47826898 47827687 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435874 S 31 1 0 "" NA18592 esv1924461 14 47833407 47834102 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4642291 S 1 0 1 "" NA18507 esv2533152 14 47833508 47835074 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188755 S 1 0 1 "" NA18507 esv4402 14 47833521 47833966 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26843 S 1 0 1 Single Asian sample YH "" YH esv2362149 14 47833933 47834396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603310 S 1 0 1 "" NA18507 nsv520033 14 47841003 47974651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690305,nssv686674,nssv674529,nssv660175,nssv675053,nssv691327 M 2026 0 6 "" nsv456313 14 47866053 47938359 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533657 S 1557 0 1 "" 1780854459_A nsv901929 14 47871494 48064639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585152 S 6533 0 1 "" IS37321 esv2610282 14 47895716 47897279 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205071 S 1 0 1 "" NA18507 esv2001921 14 47896373 47897090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605595 S 1 0 1 "" NA18507 esv5383 14 47896473 47896937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27824 S 1 0 1 Single Asian sample YH "" YH nsv510635 14 47897624 47948339 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618916 S 4 0 1 "" NA10860 nsv832790 14 47910733 48111551 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450956 S 95 1 0 "" nsv1267 14 47941025 47973150 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4109 S 9 1 0 "" NA12878 nsv456314 14 47959934 48006869 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533658 S 1557 0 1 "" 1782681262_A nsv523715 14 47990636 48037957 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699528 S 2026 0 1 "" nsv901930 14 48037982 48087167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579469 S 6533 0 1 "" IS35107 nsv832791 14 48048657 48268288 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450957 S 95 1 0 "" nsv526681 14 48118971 48121413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703013 S 2026 0 1 "" nsv901931 14 48126417 48184412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538950 S 6533 0 1 "" MS13871 nsv522915 14 48154747 48204884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698576 S 2026 0 1 "" esv2302370 14 48156680 48157086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732059 S 1 0 1 "" NA18507 nsv524828 14 48170525 48171583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700829 S 2026 0 1 "" nsv525367 14 48170525 48299717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701487 S 2026 0 1 "" nsv518909 14 48387799 48394697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696369 S 2026 0 1 "" dgv1933n71 14 48397297 48509334 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901932,nsv901933 M 6533 0 3 "" IS31554,IS34005,IS36050 nsv826946 14 48401017 48403698 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431620,nssv1433970,nssv1430138 M 31 0 3 "" AK14,AK18,NA18526 nsv901934 14 48419394 48678806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558133 S 6533 0 1 "" MS23123 esv28741 14 48452046 48454321 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14366 S 451 0 2 "" NA18909,NA18916 nsv901935 14 48460753 48616412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601065 S 6533 0 1 "" IS41964 nsv513407 14 48477463 48477642 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625805 S 1 1 0 "" 1 esv1119830 14 48477635 48477635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639432 S 2 1 0 "" HuRef esv1277697 14 48477941 48477941 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066095 S 2 1 0 "" HuRef esv270044 14 48501279 48501526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2538526,essv2524036,essv2572645 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19108,NA19129,NA19143 nsv521158 14 48553574 48559139 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697819 S 2026 0 1 "" nsv510379 14 48556521 48562521 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624161,nssv618403 M 4 0 2 "" CHM,NA18994 nsv513408 14 48559467 48559685 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625806 S 1 1 0 "" 1 nsv474990 14 48559526 48559610 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557915 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv499276 14 48559526 48559610 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586242 S 9 1 0 "" nsv84479 14 48592539 48602132 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103057 M 24 "" nsv901936 14 48633008 48700723 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515510 S 6533 1 0 "" SP56213 esv271422 14 48691117 48691202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519410 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 esv23346 14 48741623 48742128 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20026 S 451 1 0 "" NA18502 esv269903 14 48741994 48742298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512608,essv2510588,essv2509811,essv2496419,essv2493610,essv2505975,essv2494019,essv2506468,essv2497475,essv2496993,essv2499703,essv2501784,essv2498157 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18508,NA18510,NA18517,NA18861,NA18871,NA19108,NA19147,NA19190,NA19225,NA19239,NA19240 esv274019 14 48742008 48742338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584680,essv2583865 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv1268 14 48795279 48808478 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9194 S 9 0 1 "" NA12156 esv259918 14 48797591 48797843 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394756,essv2395561,essv2397629,essv2396115,essv2398805,essv2394651,essv2396447 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA18501,NA18502,NA18523,NA18582,NA18870,NA19138 esv7872 14 48797709 48797786 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30313 S 1 1 0 "" SJK nsv522381 14 48882548 48899459 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695161 S 2026 1 0 "" esv28926 14 48963438 50012277 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16084,esv14890,esv10615,esv12706 M 451 35 1 ARF6,ATP5S,C14orf182,C14orf183,CDKL1,DNAAF2,KLHDC1,KLHDC2,L2HGDH,LRR1,MAP4K5,METTL21D,MGAT2,NEMF,POLE2,RPL36AL,RPS29,SOS2 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv2200867 14 49028005 49028531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867279 S 1 0 1 "" NA18507 esv3675 14 49028163 49028412 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26116 S 1 0 1 Single Asian sample YH "" YH esv993780 14 49028193 49028338 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584517 S 3 0 1 "" HuRef nsv84754 14 49028207 49028352 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103332 M 24 "" esv2370308 14 49072839 49073295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963234 S 1 0 1 "" NA18507 esv3082 14 49188603 49188874 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25523 S 1 0 1 Single Asian sample YH POLE2 YH esv1091889 14 49188637 49188794 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784202 S 2 0 1 POLE2 HuRef esv260001 14 49261696 49262220 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398621,essv2396741,essv2400223,essv2400059,essv2396085,essv2398789,essv2398587,essv2400244,essv2395848,essv2396727,essv2400344,essv2395268,essv2396543,essv2399116,essv2397546,essv2398917,essv2396035,essv2395784,essv2398059,essv2400281,essv2396786,essv2396669,essv2396283,essv2400738,essv2395418,essv2396694,essv2397968,essv2399617,essv2399725,essv2397340,essv2401099,essv2396903,essv2395621,essv2397641,essv2399896,essv2397818,essv2399229,essv2400636,essv2398544,essv2396628,essv2396058,essv2400957,essv2395104,essv2398420,essv2399886,essv2398520,essv2395516,essv2400863,essv2397416,essv2399555,essv2397194,essv2400608,essv2396890,essv2400429,essv2395554,essv2398996,essv2400147,essv2399143,essv2395751,essv2399939,essv2399459,essv2394624,essv2398446,essv2397921,essv2398236,essv2399994,essv2396210,essv2395872,essv2398128,essv2397121,essv2400833,essv2394543,essv2400380,essv2395817,essv2399654,essv2394580,essv2398746,essv2400988,essv2395211,essv2394856,essv2395683,essv2399497,essv2398122,essv2395951,essv2397029,essv2400463,essv2394515 M 144 0 0 Samples from several populations that are part of the HapMap project. KLHDC1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11829,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11992,NA11995,NA12003,NA12004,NA12144,NA12154,NA12249,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18526,NA18537,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18940,NA18944,NA18945,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA19005,NA19099,NA19108,NA19114,NA19116,NA19137,NA19172,NA19238,NA19239,NA19240,NA19257 esv259642 14 49261700 49262200 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394086,essv2393966,essv2393784,essv2393660,essv2394055,essv2394262 M 6 0 0 Samples from several populations that are part of the HapMap project. KLHDC1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2484466 14 49261773 49262698 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251098 S 1 1 0 KLHDC1 NA18507 nsv1269 14 49280773 49316621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9956,nssv4110,nssv2071,nssv1190,nssv5500 M 9 5 0 KLHDC1,KLHDC2 NA12878,NA18507,NA18555,NA19129,NA19240 nsv509533 14 49281138 49321554 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621001,nssv623662,nssv619648,nssv618105 M 4 4 0 KLHDC1,KLHDC2,NEMF CHM,NA10860,NA15510,NA18994 esv1007274 14 49297449 49297653 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563585 S 3 1 0 "" HuRef esv1441144 14 49297600 49297600 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229676 S 2 1 0 "" HuRef nsv901937 14 49305661 49319607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518687 S 6533 0 1 KLHDC2 SP57921 nsv826947 14 49422050 49425350 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422164 S 31 1 0 "" NA18547 nsv826948 14 49463794 49472489 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422928 S 31 0 1 "" NA18552 nsv1270 14 49503197 49534627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5501 S 9 1 0 C14orf182 NA19129 nsv512360 14 49609706 49611903 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624946 S 1 0 1 "" 1 nsv1271 14 49639873 49641982 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6593 S 9 1 0 "" NA12156 nsv832793 14 49830713 50007325 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450958 S 95 0 1 ATP5S,CDKL1,L2HGDH,MAP4K5 nsv819725 14 49894470 49897634 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419515 S 2 1 0 CDKL1 AK1 nsv820573 14 49894684 49896797 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421090 S 1 0 1 CDKL1 NA10851 nsv1272 14 49926204 49929681 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2072 S 9 1 0 CDKL1 NA18555 nsv1273 14 50102314 50147748 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6594 S 9 0 1 ATL1 NA12156 nsv1274 14 50107353 50140808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5502 S 9 1 0 ATL1 NA19129 nsv826949 14 50159984 50160794 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434697 S 31 1 0 ATL1 NA18570 esv274587 14 50254627 50254963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580608 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv832794 14 50276383 50496359 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450959 S 95 1 0 ABHD12B,NIN,PYGL esv1041138 14 50407428 50407428 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952293 S 2 1 0 "" HuRef esv1069742 14 50407431 50407431 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631532 S 2 1 0 "" HuRef esv1712118 14 50407479 50407479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311372 S 2 1 0 "" HuRef nsv901938 14 50428544 50483174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581546,nssv1539735 M 6533 0 2 ABHD12B,PYGL IS35622,MS14485 esv4830 14 50478607 50479388 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27271 S 1 0 1 Single Asian sample YH PYGL YH nsv826950 14 50478612 50479074 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440642,nssv1425311,nssv1438434,nssv1431621,nssv1422931 M 31 3 2 PYGL AK18,AK2,NA18552,NA18564,NA18951 nsv820614 14 50478612 50479373 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421092 S 1 0 1 PYGL NA10851 nsv826951 14 50478612 50479373 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434698 S 31 1 0 PYGL NA18570 esv7846 14 50478633 50479336 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30287 S 1 0 1 PYGL SJK esv33577 14 50478705 50488188 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94823 S 51 1 0 PYGL 21791 esv2585921 14 50488090 50488164 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256387 S 1 0 1 "" NA18507 nsv437172 14 50501704 50505210 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467053 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10860 esv268841 14 50501813 50502149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558020,essv2565890,essv2575914,essv2540893,essv2571745,essv2546423,essv2526189,essv2536714,essv2522823,essv2544224,essv2570996,essv2545458,essv2577310,essv2570661,essv2521666,essv2576563,essv2550831,essv2525502,essv2550328,essv2535067,essv2544390,essv2552117,essv2547443,essv2564534,essv2577918,essv2553600,essv2559613,essv2565339,essv2564062,essv2554973,essv2530854,essv2561823,essv2537494,essv2528581,essv2547115,essv2520782,essv2552726,essv2569233,essv2544880,essv2562905,essv2523795,essv2553002,essv2538420,essv2540536,essv2524574,essv2564861,essv2534720,essv2539533,essv2549441,essv2519532,essv2560066,essv2521915,essv2566278,essv2530918,essv2532464,essv2568005,essv2528960,essv2567304,essv2541655,essv2569909,essv2563935,essv2553502,essv2572362,essv2578139,essv2573120,essv2555360,essv2567273,essv2566358,essv2527519,essv2557600,essv2556008,essv2534218,essv2522356,essv2531502,essv2573724,essv2543305,essv2572139,essv2525568,essv2526835,essv2575276,essv2526441,essv2560802,essv2571445,essv2574225,essv2551265,essv2536029,essv2548711,essv2532942,essv2554768,essv2525159,essv2563406 M 157 91 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11918,NA11920,NA11931,NA11992,NA11993,NA12003,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12414,NA12489,NA12717,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18502,NA18508,NA18526,NA18532,NA18537,NA18542,NA18547,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18940,NA18942,NA18943,NA18947,NA18948,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19102,NA19114,NA19137,NA19238,NA19240,NA19257 esv274603 14 50501813 50502149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581929,essv2582561,essv2582997,essv2583953,essv2583455 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1377193 14 50501844 50501844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077130 S 2 1 0 "" HuRef nsv84409 14 50589980 50590297 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102987 M 24 TRIM9 esv1957541 14 50670967 50671580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848941 S 1 0 1 "" NA18507 esv8998 14 50671151 50671480 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31439 S 1 0 1 "" SJK esv1001497 14 50680696 50680763 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581618 S 3 0 1 "" HuRef esv1278091 14 50680715 50680783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082811 S 2 0 1 "" HuRef esv274183 14 50788705 50789025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580181,essv2579907,essv2580509,essv2579271 M 7 4 0 Samples from several populations that are part of the HapMap project. TMX1 NA12878,NA12892,NA19238,NA19239 esv270239 14 50788713 50789050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565872,essv2575816,essv2540763,essv2571651,essv2546247,essv2521118,essv2536482,essv2543959,essv2570799,essv2556600,essv2523151,essv2577219,essv2570442,essv2548373,essv2550597,essv2552134,essv2529141,essv2558417,essv2564712,essv2577933,essv2559521,essv2565359,essv2563968,essv2554824,essv2546712,essv2552601,essv2562778,essv2569285,essv2578719,essv2537155,essv2569694,essv2527094,essv2544881,essv2562896,essv2523728,essv2541317,essv2542643,essv2524625,essv2534945,essv2561030,essv2539530,essv2549598,essv2519889,essv2560114,essv2522017,essv2566055,essv2532830,essv2529012,essv2570265,essv2563833,essv2553290,essv2572550,essv2559062,essv2566691,essv2550878,essv2543588,essv2556181,essv2527971,essv2534130,essv2578468,essv2573039,essv2567266,essv2566631,essv2530154,essv2555922,essv2522377,essv2531497,essv2573530,essv2543195,essv2572177,essv2526898,essv2524108,essv2560918,essv2574598,essv2572758,essv2568583,essv2545111,essv2560175,essv2549687,essv2551289,essv2535930,essv2537856,essv2554591,essv2547668,essv2524923,essv2563483,essv2557955 M 157 87 0 Samples from several populations that are part of the HapMap project. TMX1 NA06986,NA07000,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11920,NA11992,NA11993,NA11994,NA12004,NA12043,NA12044,NA12045,NA12155,NA12489,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12828,NA12872,NA12892,NA18502,NA18507,NA18508,NA18510,NA18517,NA18520,NA18522,NA18526,NA18532,NA18537,NA18545,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18907,NA18916,NA18940,NA18942,NA18947,NA18948,NA18949,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19190,NA19225,NA19257 nsv901939 14 50801106 50840607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577808 S 6533 0 1 "" IS34572 dgv1934n71 14 50801106 50865173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901941,nsv901940 M 6533 0 5 "" IS35018,IS37293,IS40890,MS19161,MS21814 dgv1935n71 14 50820213 50867994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901942,nsv901943 M 6533 0 2 "" MS17359,MS22619 nsv1275 14 50827429 50861329 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1191 S 9 1 0 "" NA19240 esv25212 14 50831316 50832082 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16873 S 451 2 0 "" NA11995,NA12239 nsv526155 14 50832439 50833031 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702414 S 2026 0 1 "" nsv520336 14 50832439 50835322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697355 S 2026 0 1 "" nsv522702 14 50832439 50864166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706113 S 2026 0 1 "" nsv456316 14 50832439 50865173 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533659 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00805 nsv526511 14 50832999 50837158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702821 S 2026 0 1 "" dgv1936n71 14 50873839 50977113 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901944,nsv901945 M 6533 0 2 LOC283553 SP52594,SP81068 nsv510380 14 50957994 50963994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622249 S 4 0 1 "" NA10860 nsv528274 14 51097980 51108156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704843 S 2026 0 1 FRMD6 nsv1277 14 51113794 51131043 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1192 S 9 1 0 FRMD6 NA19240 esv1010904 14 51115412 51123970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563458 S 3 0 1 FRMD6 HuRef nsv528065 14 51128813 51137210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704601 S 2026 0 1 FRMD6 nsv526899 14 51172942 51175564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703258 S 2026 0 1 FRMD6 nsv901946 14 51225891 51284733 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585473,nssv1553951 M 6533 0 2 FRMD6 IS37467,MS20440 esv23239 14 51282516 51316583 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20769 S 451 1 0 "" NA19147 esv989374 14 51303980 51310949 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564253 S 3 0 1 "" HuRef nsv901947 14 51331040 51565125 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562653 S 6533 1 0 C14orf166,GNG2,NID2 MS25690 nsv456317 14 51339481 51404339 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533660 S 1557 0 1 GNG2 1780862304_A nsv525537 14 51380094 51384867 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701672 S 2026 1 0 "" nsv826952 14 51421328 51422119 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437006 S 31 0 1 GNG2 NA18542 esv2514556 14 51473442 51474878 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253894 S 1 0 1 GNG2 NA18507 esv2000663 14 51473889 51474409 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694257 S 1 0 1 GNG2 NA18507 dgv35n6 14 51474083 51474220 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv85349,nsv85231 M 24 GNG2 esv1005848 14 51474087 51474211 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570850 S 3 0 1 GNG2 HuRef nsv7252 14 51484303 51490235 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4112 S 9 0 0 GNG2 NA12878 esv2571786 14 51504674 51506068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324736 S 1 0 1 GNG2 NA18507 nsv85620 14 51558677 51558677 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104198 M 24 NID2 nsv901948 14 51570985 51753955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562654 S 6533 1 0 NID2 MS25690 esv268546 14 51631556 51631887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523021,essv2542819,essv2524338,essv2534950,essv2539895,essv2566002,essv2567899,essv2567335,essv2541464,essv2569937,essv2563572,essv2533790,essv2543197,essv2571985 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA18550,NA18555,NA18561,NA18563,NA18572,NA18577,NA18582,NA18592,NA18593,NA18603,NA18944,NA18965,NA18973 nsv901949 14 51693389 51730248 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578902 S 6533 0 1 "" IS34962 nsv509534 14 51709171 51744428 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623663,nssv621002 M 4 2 0 "" NA15510,NA18994 nsv901950 14 51709958 51730248 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567254,nssv1585588,nssv1570589 M 6533 0 3 "" IS31062,IS32259,IS37554 nsv1278 14 51732398 51758309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1193 S 9 1 0 "" NA19240 esv268037 14 51737485 51737570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514576,essv2519267,essv2517516,essv2516953,essv2518720,essv2514760,essv2515132,essv2517949,essv2514325,essv2517743,essv2515791,essv2513818,essv2518429,essv2519486 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11894,NA11918,NA11931,NA12045,NA12234,NA12812,NA12872,NA12874,NA12878,NA18969,NA19143,NA19240 esv272865 14 51737485 51737570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581463,essv2581169 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv832795 14 51766983 51964738 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450960 S 95 1 0 PTGDR,PTGER2 nsv819552 14 51802623 51805291 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419461 S 2 1 0 PTGDR AK1 esv1758678 14 51826548 51826879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156957 S 2 0 1 "" HuRef nsv84324 14 51826549 51826879 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102902 M 24 "" nsv527685 14 51892215 51897364 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704161 S 2026 1 0 "" nsv901951 14 51892215 52058978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527021 S 6533 1 0 TXNDC16 SP58068 nsv528023 14 51897364 51899472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704552 S 2026 0 1 "" nsv826954 14 51975784 51977157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437008 S 31 0 1 TXNDC16 NA18542 esv2622229 14 52064854 52068334 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233197 S 1 0 1 TXNDC16 NA18507 esv1464286 14 52066143 52066143 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000821 S 2 1 0 TXNDC16 HuRef esv1116149 14 52067043 52067043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933154 S 2 1 0 TXNDC16 HuRef nsv826955 14 52098391 52101566 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440643 S 31 0 1 GPR137C NA18564 nsv832796 14 52216626 52396650 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450963 S 95 0 1 ERO1L,FERMT2,GNPNAT1,PSMC6,STYX esv2090227 14 52247299 52247709 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611234 S 1 0 1 PSMC6 NA18507 nsv470647 14 52267461 52368027 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547581 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNPNAT1,STYX HGDP00546 nsv901952 14 52275517 52387090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597944 S 6533 0 1 GNPNAT1,STYX IS41224 nsv1279 14 52291321 52324939 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1194 S 9 1 0 GNPNAT1,STYX NA19240 nsv819339 14 52322186 52324534 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419420 S 2 0 1 GNPNAT1 AK1 esv7884 14 52322203 52324840 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30325 S 1 0 1 GNPNAT1 SJK nsv826956 14 52322327 52324712 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429390,nssv1435397,nssv1441474,nssv1433971 M 31 0 4 GNPNAT1 AK12,NA18526,NA18942,NA18969 esv1109148 14 52373867 52373867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205371 S 2 1 0 "" HuRef nsv820177 14 52415017 52415601 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419012 S 2 0 1 FERMT2 AK1 nsv901953 14 52453660 52537610 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528437 S 6533 1 0 FERMT2 SP81238 nsv832797 14 52469321 52650444 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450964 S 95 1 0 DDHD1,FERMT2 nsv901954 14 52540666 52612077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522768 S 6533 1 0 DDHD1 SP53413 esv988662 14 52671853 52678724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564073 S 3 0 1 DDHD1 HuRef esv4829 14 52718114 52718424 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27270 S 1 0 1 Single Asian sample YH "" YH nsv832798 14 52725081 52911798 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450965,nssv1450966 M 95 1 1 "" nsv84900 14 52726577 52726577 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103478 M 24 "" nsv521381 14 52810756 52833496 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697990 S 2026 1 0 "" nsv522094 14 52810756 52833496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694866 S 2026 0 1 "" esv268805 14 52847833 52848178 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514703,essv2516638,essv2515582,essv2518129,essv2514454,essv2515831,essv2517268 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12815,NA12872,NA12874,NA18969,NA18970 nsv507748 14 52858438 52864438 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620563 S 4 1 0 "" NA15510 esv272934 14 52869893 52870226 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579873 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv269777 14 52869902 52870251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576103,essv2546347,essv2522761,essv2556702,essv2577231,essv2550720,essv2520592,essv2559678,essv2554987,essv2556983,essv2552677,essv2551880,essv2569408,essv2538957,essv2544790,essv2523788,essv2541186,essv2538265,essv2542692,essv2524751,essv2564851,essv2534680,essv2539572,essv2549393,essv2559831,essv2521980,essv2532884,essv2568022,essv2528811,essv2567539,essv2541703,essv2570288,essv2563842,essv2553389,essv2535588,essv2572524,essv2559137,essv2566729,essv2562454,essv2533894,essv2578452,essv2555628,essv2567108,essv2566590,essv2573890,essv2522584,essv2573422,essv2543136,essv2577049,essv2526757,essv2575777,essv2575031,essv2538790,essv2568772,essv2545244,essv2548095,essv2549759,essv2571537,essv2574502,essv2536211,essv2533357 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA11830,NA11881,NA11931,NA11994,NA12043,NA12155,NA12716,NA12776,NA12872,NA18501,NA18502,NA18504,NA18508,NA18519,NA18526,NA18537,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18563,NA18564,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18909,NA18916,NA18940,NA18945,NA18947,NA18948,NA18951,NA18960,NA18964,NA18965,NA18970,NA19005,NA19099,NA19102,NA19108,NA19147,NA19172,NA19210,NA19225,NA19238,NA19240 nsv901955 14 52871996 52892776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504422,nssv1505297 M 6533 0 2 "" SP52475,SP53349 esv34651 14 52872802 52890800 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978284,essv6989012,essv6987365 M 771 0 1 "" NA18997 dgv636e1 14 52872802 52890807 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1582,esv1070 M 271 0 0 "" NA18997 nsv826957 14 52873168 52892122 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422146 S 31 0 1 "" NA18997 nsv84915 14 52884457 52884457 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103493 M 24 "" esv25029 14 52944635 52945177 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10168 S 451 1 0 "" NA18523 nsv901956 14 52982584 53317833 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527022 S 6533 1 0 "" SP58068 nsv527977 14 52989928 53008870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704492 S 2026 0 1 "" nsv1280 14 53081740 53126551 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9196 S 9 0 1 "" NA12156 esv26967 14 53093204 53098473 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17626 S 451 1 0 "" NA12878 nsv832799 14 53156747 53212308 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450971,nssv1450969,nssv1450970,nssv1450967,nssv1450972,nssv1450968,nssv1450974,nssv1450976,nssv1450983,nssv1450980,nssv1450977,nssv1450979,nssv1450978,nssv1450982,nssv1450981,nssv1450975 M 95 0 16 "" esv24447 14 53386053 53387317 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16617 S 451 0 2 "" NA12239,NA12878 nsv1281 14 53392198 53425781 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9197 S 9 1 0 "" NA12156 nsv507749 14 53422319 53428319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617884,nssv620564 M 4 2 0 "" CHM,NA15510 nsv832800 14 53626221 53827734 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450985 S 95 1 0 "" esv2535186 14 53633249 53634725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192602 S 1 0 1 "" NA18507 esv2257666 14 53633612 53634344 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4779115 S 1 0 1 "" NA18507 esv2855 14 53633769 53634330 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25296 S 1 0 1 Single Asian sample YH "" YH esv1145738 14 53633816 53634150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595847 S 2 0 1 "" HuRef esv6245 14 53633818 53634134 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28686 S 1 0 1 "" SJK nsv507750 14 53638945 53644945 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620565,nssv623170,nssv617885 M 4 3 0 "" CHM,NA15510,NA18994 esv1352400 14 53740300 53740300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924036 S 2 1 0 "" HuRef esv1202472 14 53740438 53740536 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059808 S 2 0 1 "" HuRef nsv510636 14 53749253 53832947 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620073 S 4 0 1 "" NA15510 dgv637e1 14 53759574 53803592 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22619,esv1284 M 271 0 0 "" NA12154 nsv9149 14 53779833 53783921 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22267,nssv21183,nssv20282,nssv22298,nssv22119 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA11830,NA12155,NA12740 nsv826958 14 53779957 53783400 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429541 S 31 0 1 "" NA18968 nsv819002 14 53779980 53783430 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419543 S 2 0 1 "" AK1 esv993006 14 53780096 53783434 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583236 S 3 0 1 "" HuRef nsv84680 14 53780097 53783435 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103258 M 24 "" esv21928 14 53780141 53783434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11828 S 451 0 8 "" NA06985,NA11894,NA12006,NA12287,NA12489,NA12749,NA12776,NA15510 nsv832801 14 53791765 53956523 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450986 S 95 1 0 CDKN3 esv1548502 14 53860191 53860273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282608 S 2 0 1 "" HuRef esv268977 14 53885458 53885798 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575968,essv2540781,essv2571597,essv2546599,essv2536503,essv2522851,essv2571028,essv2568098,essv2523370,essv2531742,essv2577357,essv2570691,essv2548249,essv2576526,essv2550780,essv2525495,essv2535459,essv2553996,essv2552317,essv2520366,essv2547278,essv2529229,essv2558269,essv2564603,essv2577883,essv2559449,essv2576316,essv2520140,essv2563991,essv2561854,essv2557284,essv2551939,essv2532274,essv2569284,essv2578653,essv2527041,essv2544835,essv2540586,essv2561264,essv2519842,essv2521966,essv2566318,essv2530936,essv2532759,essv2567666,essv2528844,essv2567567,essv2541744,essv2572278,essv2559102,essv2539378,essv2533982,essv2555258,essv2566400,essv2556080,essv2522632,essv2575424,essv2560790,essv2524019,essv2571210,essv2574369,essv2551299,essv2536209,essv2537809,essv2548678,essv2532997,essv2525098,essv2563496,essv2558183 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11920,NA11931,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12814,NA12815,NA12828,NA12874,NA18499,NA18504,NA18505,NA18508,NA18510,NA18522,NA18526,NA18552,NA18562,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18609,NA18638,NA18912,NA18916,NA18943,NA18948,NA18956,NA18960,NA19099,NA19116,NA19129,NA19238,NA19240,NA19257 esv272290 14 53885458 53885798 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584168,essv2583538 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv832802 14 53961804 54105017 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450987 S 95 0 1 CGRRF1,CNIH,GMFB,SAMD4A nsv819843 14 54013836 54017915 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419602 S 2 0 1 GMFB AK1 nsv1282 14 54224357 54240815 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9506 S 9 1 0 SAMD4A NA18507 nsv436788 14 54300324 54300730 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466763 S 2 1 0 Samples from several populations that are part of the HapMap project. SAMD4A NA18505 esv1004703 14 54322132 54325882 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563723 S 3 0 1 SAMD4A HuRef nsv819735 14 54389559 54395802 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419761 S 2 0 1 GCH1 AK1 nsv84529 14 54582531 54587481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103107 M 24 SOCS4 nsv512361 14 54820561 54821797 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624947 S 1 0 1 FBXO34 1 esv271549 14 54865587 54865922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540963,essv2571770,essv2546472,essv2521329,essv2526174,essv2556754,essv2523459,essv2577453,essv2570693,essv2548197,essv2521754,essv2535437,essv2554147,essv2552035,essv2520607,essv2547259,essv2564451,essv2559728,essv2565456,essv2520022,essv2564146,essv2530683,essv2537552,essv2528447,essv2557180,essv2552394,essv2532130,essv2558853,essv2538961,essv2569748,essv2544608,essv2552741,essv2540353,essv2565082,essv2561130,essv2539710,essv2549337,essv2519690,essv2531189,essv2568004,essv2528920,essv2541764,essv2563631,essv2535688,essv2572499,essv2559289,essv2573213,essv2555264,essv2555676,essv2567086,essv2566451,essv2527460,essv2555919,essv2522615,essv2531547,essv2526984,essv2529833,essv2575659,essv2526521,essv2524115,essv2560300,essv2549783,essv2571202,essv2574428,essv2538097,essv2554495,essv2563498,essv2558197 M 157 68 0 Samples from several populations that are part of the HapMap project. FBXO34 NA07000,NA07346,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11918,NA11994,NA12004,NA12043,NA12044,NA12045,NA12144,NA12249,NA12287,NA12489,NA12716,NA12717,NA12751,NA12776,NA12812,NA12815,NA12828,NA12873,NA12878,NA12891,NA18501,NA18502,NA18505,NA18516,NA18519,NA18520,NA18526,NA18542,NA18552,NA18558,NA18562,NA18563,NA18564,NA18566,NA18573,NA18577,NA18579,NA18592,NA18603,NA18608,NA18609,NA18638,NA18942,NA18943,NA18945,NA18947,NA18948,NA18952,NA18956,NA18960,NA18961,NA19005,NA19093,NA19099,NA19114,NA19129,NA19190,NA19225,NA19238,NA19240 esv272758 14 54865587 54865922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581831,essv2582718,essv2584143,essv2583671 M 7 4 0 Samples from several populations that are part of the HapMap project. FBXO34 NA12878,NA12891,NA19238,NA19240 esv1218411 14 54868314 54868314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718897 S 2 1 0 FBXO34 HuRef nsv84773 14 54874539 54876872 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103351 M 24 FBXO34 nsv901957 14 54888972 54923477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504931 S 6533 1 0 ATG14,FBXO34 SP52868 dgv1937n71 14 54891848 55171632 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901964,nsv901960,nsv901962,nsv901958,nsv901961,nsv901963 M 6533 6 0 ATG14,C14orf33,KTN1,TBPL2 IS30378,MS11451,MS13819,MS18695,MS18828,SP53759 nsv901959 14 54923477 54985978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534342 S 6533 1 0 ATG14,TBPL2 MS11550 nsv518706 14 55014365 55016370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696157 S 2026 0 1 "" nsv901965 14 55046181 55171632 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563148 S 6533 1 0 C14orf33,KTN1 MS25885 esv7431 14 55083321 55083423 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29872 S 1 1 0 "" SJK nsv832804 14 55153603 55347385 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450988 S 95 1 0 C14orf34,KTN1,RPL13AP3 nsv1283 14 55189812 55234482 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9198 S 9 0 1 KTN1 NA12156 dgv1938n71 14 55230657 55562749 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901966,nsv901977 M 6533 2 0 C14orf34,RPL13AP3 IS36887,IS38153 dgv1939n71 14 55252880 55334929 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv901967,nsv901971,nsv901972,nsv901975,nsv901976,nsv901974,nsv901973,nsv901968,nsv901969,nsv901970 M 6533 11 0 C14orf34,RPL13AP3 IS41806,SP51293,SP51302,SP52553,SP52986,SP53240,SP53728,SP53947,SP55508,SP55531,SP81276 esv34106 14 55415998 55620395 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv1284 14 55449693 55483117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4113 S 9 1 0 "" NA12878 nsv519022 14 55450960 55452482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694069 S 2026 0 1 "" esv2543608 14 55500153 55501204 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220522 S 1 1 0 "" NA18507 esv269184 14 55500624 55500971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510556,essv2494329,essv2493235,essv2496561,essv2501097,essv2494686,essv2501013,essv2507107,essv2513398,essv2504681,essv2506706,essv2499041,essv2498804,essv2510452,essv2499684,essv2512099,essv2501768 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18504,NA18510,NA18516,NA18519,NA18856,NA18870,NA18907,NA19099,NA19108,NA19114,NA19138,NA19172,NA19225,NA19238,NA19239 esv273534 14 55500626 55500968 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579832 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv272274 14 55507605 55507878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580769,essv2579394 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271429 14 55507646 55507942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557975,essv2575888,essv2546368,essv2521168,essv2536653,essv2522997,essv2544030,essv2571026,essv2556557,essv2545552,essv2523208,essv2531876,essv2577289,essv2570461,essv2548394,essv2576862,essv2550779,essv2525424,essv2535374,essv2554238,essv2544326,essv2552110,essv2520359,essv2529077,essv2564681,essv2578038,essv2553801,essv2565483,essv2576136,essv2520177,essv2563980,essv2555098,essv2530848,essv2528406,essv2520847,essv2556925,essv2551948,essv2544794,essv2523856,essv2553023,essv2541162,essv2542614,essv2540623,essv2524475,essv2565039,essv2534797,essv2539788,essv2549528,essv2519559,essv2560092,essv2522124,essv2532902,essv2568052,essv2567626,essv2570303,essv2553132,essv2535721,essv2558999,essv2541909,essv2543766,essv2556198,essv2528023,essv2539473,essv2578312,essv2573212,essv2555439,essv2555483,essv2566532,essv2556027,essv2534387,essv2531351,essv2573523,essv2543139,essv2577060,essv2571924,essv2526920,essv2529525,essv2575676,essv2575219,essv2526570,essv2560521,essv2524092,essv2574833,essv2572640,essv2545056,essv2548053,essv2549955,essv2536188,essv2537742,essv2549027,essv2533071,essv2547743 M 157 92 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA10851,NA11830,NA11881,NA11894,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12749,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12891,NA18498,NA18501,NA18504,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18582,NA18593,NA18605,NA18608,NA18638,NA18856,NA18870,NA18871,NA18907,NA18912,NA18940,NA18942,NA18943,NA18945,NA18948,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19138,NA19143,NA19172,NA19210,NA19225 esv1299365 14 55507678 55507678 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242983 S 2 1 0 "" HuRef esv23347 14 55523841 55530512 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13722 S 451 0 1 "" NA18909 esv22524 14 55626740 55627213 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18596 S 451 1 0 "" NA19190 esv269796 14 55676403 55676619 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557852,essv2575935,essv2546248,essv2545532,essv2523482,essv2532031,essv2550352,essv2554011,essv2544545,essv2561950,essv2552539,essv2569600,essv2578809,essv2537025,essv2561458,essv2562864,essv2523891,essv2541311,essv2542934,essv2540337,essv2524684,essv2534853,essv2560949,essv2539787,essv2549206,essv2559976,essv2566243,essv2531086,essv2532622,essv2567895,essv2541865,essv2563828,essv2535744,essv2558978,essv2566785,essv2573267,essv2533622,essv2567235,essv2530110,essv2573919,essv2534392,essv2522411,essv2543121,essv2573299,essv2577032,essv2571879,essv2525609,essv2526930,essv2529435,essv2568573,essv2560304,essv2549813,essv2551616,essv2547934 M 157 54 0 Samples from several populations that are part of the HapMap project. PELI2 NA07347,NA10851,NA11830,NA11881,NA12003,NA12004,NA12006,NA12234,NA12287,NA12414,NA12874,NA18502,NA18508,NA18510,NA18517,NA18523,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18603,NA18608,NA18638,NA18853,NA18942,NA18944,NA18947,NA18949,NA18951,NA18959,NA18960,NA18965,NA18969,NA18970,NA18973,NA18980,NA19005,NA19093,NA19147,NA19190,NA19225,NA19257 nsv519617 14 55690705 55694176 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696953 S 2026 1 0 PELI2 esv989258 14 55692864 55697314 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564900 S 3 1 0 PELI2 HuRef esv259417 14 55736511 55736883 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394169,essv2393785,essv2394014 M 6 0 0 Samples from several populations that are part of the HapMap project. PELI2 NA12878,NA12892,NA19239 esv259702 14 55736521 55736897 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396740,essv2400193,essv2400016,essv2398784,essv2394761,essv2398575,essv2395846,essv2396734,essv2398489,essv2395278,essv2396549,essv2399117,essv2399827,essv2398913,essv2395758,essv2398109,essv2400284,essv2396800,essv2396284,essv2395382,essv2396699,essv2397952,essv2399605,essv2399186,essv2399709,essv2397296,essv2396906,essv2395664,essv2394974,essv2399341,essv2396608,essv2400942,essv2398398,essv2396329,essv2399881,essv2398524,essv2399571,essv2397190,essv2396862,essv2398841,essv2395535,essv2399004,essv2399154,essv2395749,essv2399466,essv2394643,essv2395341,essv2400001,essv2394900,essv2397515,essv2397110,essv2395814,essv2399651,essv2399786,essv2399506,essv2397049 M 144 0 0 Samples from several populations that are part of the HapMap project. PELI2 NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11994,NA11995,NA12004,NA12144,NA12154,NA12249,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12828,NA12878,NA12892,NA18501,NA18511,NA18522,NA18526,NA18547,NA18552,NA18558,NA18561,NA18562,NA18570,NA18572,NA18579,NA18582,NA18593,NA18605,NA18609,NA18853,NA18858,NA18870,NA18916,NA18940,NA18942,NA18947,NA18951,NA18961,NA18964,NA19129,NA19137,NA19239 esv1586377 14 55736783 55736783 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592672 S 2 1 0 PELI2 HuRef dgv1940n71 14 55810307 55872363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901979,nsv901978 M 6533 0 2 PELI2 IS37467,MS20440 esv2638994 14 55841343 55842774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246715 S 1 0 1 "" NA18507 nsv1285 14 55922905 55967610 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9199 S 9 0 1 "" NA12156 nsv1286 14 55946156 55957238 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4114 S 9 1 0 "" NA12878 nsv84505 14 56012041 56012094 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103083 M 24 "" esv2542175 14 56100067 56101735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320873 S 1 0 1 "" NA18507 esv2328270 14 56100847 56101520 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814947 S 1 0 1 "" NA18507 esv4881 14 56100880 56101355 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27322 S 1 0 1 Single Asian sample YH "" YH nsv84975 14 56100912 56101273 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103553 M 24 "" esv1226307 14 56100965 56101318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113415 S 2 0 1 "" HuRef esv5516 14 56100973 56101308 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27957 S 1 0 1 "" SJK esv2556334 14 56108230 56108568 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297578 S 1 0 1 "" NA18507 nsv456319 14 56250467 56266008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533662 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00158 nsv901980 14 56279630 56334239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545995 S 6533 0 1 "" MS17093 nsv901981 14 56320027 56358349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510888,nssv1510072 M 6533 0 2 OTX2,OTX2OS1 SP54956,SP54988 dgv1941n71 14 56327323 56354386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901982,nsv901983 M 6533 0 3 OTX2,OTX2OS1 SP54043,SP54725,SP56223 esv270000 14 56360991 56361196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510211,essv2496637,essv2511233,essv2505039,essv2493651,essv2498545,essv2495540,essv2503095,essv2506475,essv2509445,essv2497697,essv2499687 M 157 12 0 Samples from several populations that are part of the HapMap project. OTX2OS1 NA10851,NA11894,NA11931,NA12828,NA18517,NA18858,NA18916,NA18943,NA19108,NA19129,NA19147,NA19225 nsv1288 14 56365693 56411420 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6595 S 9 0 1 OTX2OS1 NA12156 nsv510381 14 56385531 56391531 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618404 S 4 0 1 OTX2OS1 CHM nsv507751 14 56442386 56448386 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617886 S 4 1 0 OTX2OS1 CHM nsv519759 14 56461434 56469542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658224,nssv659711 M 2026 0 2 OTX2OS1 nsv832805 14 56502796 56678595 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450989,nssv1450990 M 95 2 0 "" esv272835 14 56577723 56578057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582161,essv2583159,essv2584417,essv2583473 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv267742 14 56577725 56578055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575903,essv2521420,essv2542326,essv2568142,essv2548506,essv2525282,essv2552104,essv2558689,essv2553536,essv2559743,essv2565282,essv2555088,essv2537361,essv2547081,essv2557035,essv2552443,essv2536815,essv2527153,essv2561530,essv2542000,essv2568934,essv2524186,essv2572901,essv2545753,essv2574397,essv2548035 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11830,NA11894,NA11919,NA11995,NA12045,NA12156,NA12489,NA12750,NA12763,NA12776,NA12812,NA12872,NA12878,NA12892,NA18501,NA18502,NA18517,NA18522,NA18523,NA18856,NA18861,NA19129,NA19143,NA19239,NA19240 nsv817634 14 56689717 56695310 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417934 S 112 0 1 "" NA18853 nsv901984 14 56739795 56848427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517357 S 6533 0 1 EXOC5,MUDENG SP57266 esv2429208 14 56813671 56814679 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237381 S 1 1 0 MUDENG NA18507 esv270280 14 56814164 56814461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541016,essv2536486,essv2568416,essv2523246,essv2548338,essv2521590,essv2558465,essv2563957,essv2530853,essv2557532,essv2556968,essv2552397,essv2532393,essv2562719,essv2550028,essv2558866,essv2536941,essv2539202,essv2527164,essv2561601,essv2544747,essv2531000,essv2528807,essv2553451,essv2566787,essv2542211,essv2551048,essv2543420,essv2527949,essv2562356,essv2534094,essv2533457,essv2555935,essv2529520,essv2575131,essv2538824,essv2526381,essv2560650,essv2524029,essv2560865,essv2574608,essv2572791,essv2568497,essv2545248,essv2560481,essv2549702,essv2571555,essv2545760,essv2574269,essv2551549 M 157 50 0 Samples from several populations that are part of the HapMap project. MUDENG NA11831,NA11920,NA11995,NA12004,NA12045,NA12144,NA12750,NA12828,NA12873,NA18499,NA18501,NA18502,NA18505,NA18507,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18573,NA18579,NA18605,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18916,NA18944,NA18956,NA19093,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274604 14 56814164 56814461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584097,essv2584851,essv2583365 M 7 3 0 Samples from several populations that are part of the HapMap project. MUDENG NA19238,NA19239,NA19240 nsv832806 14 56821432 57024750 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450991 S 95 0 1 C14orf105,MUDENG,NAA30 esv23124 14 56893699 56894440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11567 S 451 0 1 "" NA19108 esv270626 14 57092507 57092592 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513959,essv2515274,essv2518907,essv2518266 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19238,NA19239,NA19240 esv274139 14 57092513 57092803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583936,essv2584853,essv2583563 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv1289 14 57115782 57127001 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9200 S 9 0 1 SLC35F4 NA12156 nsv515859 14 57193327 57194563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665038,nssv690323,nssv683259 M 2026 0 3 SLC35F4 nsv526016 14 57193327 57195940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702246 S 2026 0 1 SLC35F4 nsv528158 14 57194563 57195940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704706 S 2026 0 1 SLC35F4 nsv436182 14 57203060 57218526 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466764 S 2 0 1 Samples from several populations that are part of the HapMap project. SLC35F4 NA18505 esv25360 14 57203316 57218166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11997 S 451 0 2 SLC35F4 NA18505,NA18907 nsv517592 14 57203459 57211736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652458,nssv679584,nssv658187,nssv661634,nssv666894,nssv688445,nssv689574,nssv684642,nssv655082,nssv662194,nssv657784,nssv699312,nssv667395,nssv659712,nssv679193,nssv669373,nssv680880,nssv681300 M 2026 0 18 SLC35F4 esv24720 14 57312288 57329547 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17621 S 451 1 0 SLC35F4 NA12878 esv2142542 14 57473895 57474280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629388 S 1 0 1 "" NA18507 nsv84976 14 57474027 57474082 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103554 M 24 "" nsv84702 14 57494944 57495023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103280 M 24 "" esv34185 14 57503829 57583695 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C14orf37 esv259447 14 57520516 57520795 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393724,essv2393998,essv2394310 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv507752 14 57570655 57576655 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620566 S 4 1 0 C14orf37 NA15510 nsv826959 14 57575664 57577588 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434699 S 31 0 1 C14orf37 NA18570 esv2319201 14 57600367 57600873 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640357 S 1 0 1 C14orf37 NA18507 nsv901985 14 57730270 57964330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598192 S 6533 0 1 ACTR10,ARID4A,FLJ31306,KIAA0586,PSMA3,TIMM9,TOMM20L IS40819 nsv901986 14 57731176 57768091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500070 S 6533 0 1 ACTR10 SP50649 esv26881 14 57834527 57835000 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16858 S 451 0 1 ARID4A,FLJ31306 NA12239 nsv826960 14 58019166 58020203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437009 S 31 0 1 KIAA0586 NA18542 esv26898 14 58110532 58111935 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15089 S 451 0 1 "" NA19225 nsv510382 14 58138877 58144877 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618405 S 4 0 1 "" CHM nsv526700 14 58149738 58165993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703039 S 2026 0 1 "" nsv832807 14 58196470 58381772 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450992,nssv1450996,nssv1450994,nssv1450993 M 95 4 0 "" nsv1290 14 58229435 58255202 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5503 S 9 1 0 "" NA19129 nsv832808 14 58281160 58313817 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450997 S 95 0 1 "" nsv1291 14 58282348 58315605 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2073,nssv6596,nssv4115,nssv10016 M 9 4 0 "" NA12156,NA12878,NA18555,NA18956 nsv509536 14 58285695 58308943 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618106 S 4 1 0 "" CHM esv267648 14 58290112 58290197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518770,essv2514789,essv2515305,essv2517715,essv2517189,essv2519368 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12045,NA12234,NA12249,NA12878,NA18970 esv274446 14 58290112 58290197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581367 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv901987 14 58335577 58401986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578959 S 6533 0 1 "" IS34996 nsv901988 14 58454706 58500383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594222 S 6533 0 1 "" IS39718 nsv817635 14 58469320 58470271 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417682 S 112 0 1 "" NA18999 esv5733 14 58481266 58481342 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28174 S 1 1 0 "" SJK esv1443508 14 58498830 58498880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752864 S 2 0 1 "" HuRef esv1693065 14 58499329 58499407 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220255 S 2 0 1 "" HuRef nsv901989 14 58515963 58539490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557657 S 6533 0 1 "" MS22797 nsv513409 14 58592071 58592231 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625807 S 1 1 0 "" 1 esv271224 14 58592155 58593204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546542,essv2522878,essv2577356,essv2577906,essv2563336 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11881,NA11931,NA12043,NA12761 esv1936464 14 58594314 58594771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552447 S 1 0 1 "" NA18507 esv1006793 14 58594465 58594628 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569413 S 3 0 1 "" HuRef esv1767740 14 58594526 58594690 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923991 S 2 0 1 "" HuRef nsv85013 14 58594599 58594767 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103591 M 24 "" nsv832809 14 58599162 58757252 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450998 S 95 1 0 DAAM1 esv2480127 14 58614368 58615954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359418 S 1 0 1 "" NA18507 esv2391049 14 58614856 58615565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979680 S 1 0 1 "" NA18507 nsv85082 14 58615067 58615373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103660 M 24 "" esv268618 14 58779756 58779841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517316 S 157 1 0 Samples from several populations that are part of the HapMap project. DAAM1 NA18970 nsv507753 14 58808658 58814658 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617887 S 4 1 0 DAAM1 CHM esv270189 14 58814760 58814845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515740 S 157 1 0 Samples from several populations that are part of the HapMap project. DAAM1 NA12815 nsv85457 14 58848010 58848074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104035 M 24 DAAM1 nsv527284 14 58848014 58851397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703696 S 2026 0 1 DAAM1 nsv832810 14 58853922 59014660 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1450999 S 95 0 1 C14orf149,DAAM1,GPR135 esv3824 14 58953196 58953970 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26265 S 1 0 1 Single Asian sample YH "" YH esv7108 14 58953201 58953858 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29549 S 1 0 1 "" SJK esv2178032 14 58953517 58953938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602628 S 1 0 1 "" NA18507 esv272485 14 58964064 58964163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580675,essv2579098 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv268073 14 58964081 58964381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508553,essv2502501,essv2493475,essv2512501,essv2510552,essv2494379,essv2496520,essv2496146,essv2494658,essv2501045,essv2506737,essv2510936,essv2499794,essv2501749,essv2513036 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12717,NA12750,NA12763,NA18489,NA18501,NA18502,NA18510,NA18511,NA18519,NA18856,NA19108,NA19116,NA19225,NA19239 nsv901990 14 59110413 59209592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557415 S 6533 0 1 C14orf38,RTN1 MS22662 esv271493 14 59128693 59128778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518164 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv832811 14 59177289 59327029 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451000 S 95 0 1 RTN1 esv1643485 14 59286595 59286735 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131129 S 2 0 1 RTN1 HuRef esv1373092 14 59287066 59287066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251132 S 2 1 0 RTN1 HuRef nsv1292 14 59311273 59343848 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2074 S 9 1 0 RTN1 NA18555 esv270586 14 59405375 59405749 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499406,essv2505524,essv2505345 M 157 3 0 Samples from several populations that are part of the HapMap project. RTN1 NA11994,NA12154,NA18853 esv3175 14 59411118 59413060 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25616 S 1 0 1 Single Asian sample YH "" YH esv8015 14 59411180 59413000 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30456 S 1 0 1 "" SJK dgv638e1 14 59477247 59652794 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv591,essv6025 M 271 0 0 C14orf135 NA18571 esv34890 14 59496500 59545703 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988196,essv6979552,essv6979553 M 771 0 1 "" NA18571 essv5002 14 59496524 59545703 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18571 nsv901991 14 59512943 59586789 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568030 S 6533 0 1 "" IS31187 esv2523214 14 59523222 59524355 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327366 S 1 1 0 "" NA18507 esv270084 14 59523892 59524243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557790,essv2565622,essv2575800,essv2540818,essv2546630,essv2521206,essv2525901,essv2542409,essv2536527,essv2522885,essv2544002,essv2570879,essv2556632,essv2568157,essv2545616,essv2523295,essv2531824,essv2577395,essv2570572,essv2548494,essv2576789,essv2525492,essv2535086,essv2554125,essv2544487,essv2552201,essv2520710,essv2547553,essv2529132,essv2558545,essv2564778,essv2577737,essv2553570,essv2559579,essv2565466,essv2564208,essv2530637,essv2562105,essv2537503,essv2528554,essv2546880,essv2530513,essv2540097,essv2557356,essv2556867,essv2552639,essv2551901,essv2532206,essv2562570,essv2569567,essv2578560,essv2558861,essv2537037,essv2539108,essv2527238,essv2561400,essv2544892,essv2563008,essv2523628,essv2552975,essv2538453,essv2542621,essv2540668,essv2524662,essv2565077,essv2534781,essv2561036,essv2539562,essv2549242,essv2519647,essv2559813,essv2521909,essv2531121,essv2568053,essv2528742,essv2567312,essv2541850,essv2570194,essv2563796,essv2553263,essv2535521,essv2572495,essv2559358,essv2541920,essv2550871,essv2569038,essv2543713,essv2556367,essv2528011,essv2562535,essv2539256,essv2533924,essv2578428,essv2555241,essv2533484,essv2555663,essv2567085,essv2566593,essv2527659,essv2534234,essv2531329,essv2543156,essv2571984,essv2525582,essv2526845,essv2526609,essv2524220,essv2568432,essv2545099,essv2571549,essv2574468,essv2536210,essv2538119,essv2548863,essv2533217,essv2554798,essv2547716,essv2525196,essv2563211 M 157 119 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18952,NA18959,NA18961,NA18965,NA18973,NA18980,NA19005,NA19114,NA19129,NA19147,NA19172,NA19238,NA19240 esv272895 14 59523892 59524243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582190,essv2582660,essv2583217,essv2583976,essv2583332 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1308666 14 59523924 59523924 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153624 S 2 1 0 "" HuRef nsv901992 14 59527281 59618995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574303 S 6533 0 1 "" IS33533 nsv901993 14 59539070 59661640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598596,nssv1585040 M 6533 0 2 C14orf135 IS37226,IS41113 nsv9150 14 59539381 59549327 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26755,nssv21196 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18552,NA19221 esv1231049 14 59602159 59602159 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715136 S 2 1 0 "" HuRef esv271644 14 59645217 59645553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516756,essv2517539,essv2514063,essv2514887,essv2518477,essv2514926,essv2515710,essv2518191,essv2515915,essv2514461,essv2517689,essv2516293,essv2516878,essv2515247,essv2518243 M 157 15 0 Samples from several populations that are part of the HapMap project. C14orf135 NA11881,NA11918,NA12043,NA12234,NA12287,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA19238,NA19240 esv272888 14 59645222 59645548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582028,essv2582716,essv2582945,essv2583981,essv2583867 M 7 5 0 Samples from several populations that are part of the HapMap project. C14orf135 NA12878,NA12891,NA12892,NA19238,NA19240 esv1144667 14 59645252 59645252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869460 S 2 1 0 C14orf135 HuRef nsv1293 14 59695263 59728072 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1196 S 9 1 0 DHRS7 NA19240 nsv832812 14 59765206 59948452 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451001 S 95 0 1 PPM1A esv2256431 14 59806966 59807325 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964413 S 1 0 1 PPM1A NA18507 esv2453133 14 59810630 59811660 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197680 S 1 1 0 PPM1A NA18507 esv274146 14 59811108 59811444 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580293 S 7 1 0 Samples from several populations that are part of the HapMap project. PPM1A NA12891 esv268412 14 59811112 59811453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565812,essv2575813,essv2540777,essv2546200,essv2542578,essv2544048,essv2556596,essv2545315,essv2523136,essv2548270,essv2553967,essv2547469,essv2564709,essv2553527,essv2554847,essv2530657,essv2540056,essv2521020,essv2557522,essv2557188,essv2552428,essv2551914,essv2562642,essv2569589,essv2537175,essv2527139,essv2561521,essv2523911,essv2541439,essv2540234,essv2534832,essv2559936,essv2566253,essv2528772,essv2567442,essv2566912,essv2542179,essv2568847,essv2543563,essv2556322,essv2528053,essv2562286,essv2539276,essv2566681,essv2530181,essv2527491,essv2575679,essv2575079,essv2526370,essv2524215,essv2560885,essv2574651,essv2572621,essv2568622,essv2545116,essv2560332,essv2549956,essv2571090,essv2545770,essv2574515,essv2538000,essv2524773,essv2558003 M 157 63 0 Samples from several populations that are part of the HapMap project. PPM1A NA07000,NA07357,NA10851,NA11829,NA11830,NA11831,NA11881,NA11919,NA11992,NA11994,NA12003,NA12004,NA12045,NA12287,NA12717,NA12751,NA12763,NA12872,NA12873,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18517,NA18522,NA18523,NA18537,NA18545,NA18552,NA18561,NA18570,NA18572,NA18579,NA18582,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18948,NA18949,NA18952,NA19099,NA19102,NA19114,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240 esv24056 14 59851689 59852560 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13987 S 451 2 0 "" NA11995,NA12828 dgv1942n71 14 59880957 60015212 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv901994,nsv901995,nsv901997,nsv901996,nsv901998 M 6533 0 7 C14orf39 IS31067,IS31233,IS32615,IS35100,IS35771,IS41043,MS15199 esv7803 14 59897252 59897313 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30244 S 1 1 0 "" SJK nsv901999 14 59934336 60015212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532598 S 6533 1 0 C14orf39 MS10778 nsv902000 14 59935918 60015212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534585,nssv1556662,nssv1551223 M 6533 0 3 C14orf39 MS11669,MS18830,MS22104 nsv1294 14 59948897 59993954 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9201 S 9 0 1 C14orf39 NA12156 esv2429688 14 59969190 59972149 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263623 S 1 0 1 "" NA18507 esv1141736 14 59970273 59970273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115967 S 2 1 0 "" HuRef nsv511530 14 60092542 60131052 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626152 S 1 0 1 "" 1 nsv826961 14 60094217 60094798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438435 S 31 0 1 "" NA18951 nsv7253 14 60104536 60148445 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1197 S 9 0 0 "" NA19240 nsv512362 14 60127722 60129734 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624948 S 1 0 1 "" 1 esv21633 14 60127839 60129190 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13924 S 451 0 1 "" NA11995 nsv819505 14 60182447 60183059 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419027 S 2 1 0 SIX1 AK1 nsv1295 14 60185591 60230447 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9202 S 9 0 1 SIX1 NA12156 esv28162 14 60218431 60224768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17588 S 451 0 1 "" NA19257 nsv902001 14 60252131 60430848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557658 S 6533 0 1 MNAT1,SIX4 MS22797 esv2482420 14 60293709 60295148 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355916 S 1 0 1 MNAT1 NA18507 esv2540729 14 60379742 60381497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180184 S 1 0 1 MNAT1 NA18507 nsv510637 14 60440874 60453896 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620074,nssv622685 M 4 0 2 MNAT1 NA15510,NA18994 nsv507754 14 60442136 60448136 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617888 S 4 1 0 MNAT1 CHM esv268846 14 60493137 60493434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514733 S 157 1 0 Samples from several populations that are part of the HapMap project. MNAT1 NA12234 dgv1943n71 14 60528597 60606686 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902003,nsv902002 M 6533 0 2 SLC38A6 IS31335,IS35181 nsv902004 14 60528597 60642702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574214 S 6533 0 1 SLC38A6 IS33530 esv269426 14 60568076 60568279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509851,essv2505964 M 157 2 0 Samples from several populations that are part of the HapMap project. SLC38A6 NA18508,NA18861 esv259582 14 60617548 60617869 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394149,essv2393835 M 6 0 0 Samples from several populations that are part of the HapMap project. SLC38A6 NA12878,NA12892 esv260030 14 60617560 60617892 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400229,essv2399089,essv2396248,essv2400586,essv2397579,essv2399968,essv2399723,essv2397277,essv2396968,essv2397660,essv2400698,essv2397198,essv2400444,essv2398976,essv2399155,essv2394672,essv2398239,essv2395426,essv2396995,essv2401019,essv2396460,essv2397216 M 144 0 0 Samples from several populations that are part of the HapMap project. SLC38A6 NA07037,NA10851,NA12006,NA12043,NA12044,NA12156,NA12828,NA12878,NA12892,NA18502,NA18542,NA18572,NA18592,NA18603,NA18609,NA18870,NA18909,NA18948,NA18973,NA19099,NA19138,NA19225 nsv517884 14 60662379 60683259 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695293 S 2026 1 0 "" nsv526595 14 60683259 60684493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702914 S 2026 0 1 "" nsv520019 14 60693823 60695870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697180 S 2026 0 1 "" nsv1296 14 60707472 60741369 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4116 S 9 1 0 "" NA12878 nsv470648 14 60707599 60754091 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547582 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01084 esv259867 14 60709158 60709479 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394791,essv2399043,essv2400926,essv2400568,essv2398681,essv2400769,essv2395415,essv2399176,essv2396537,essv2396610,essv2395689,essv2400708,essv2394948,essv2400953,essv2399572,essv2398818,essv2400421,essv2398956,essv2400174,essv2399481,essv2395313,essv2397488,essv2397108,essv2398338,essv2399761,essv2399528,essv2397992 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11993,NA12043,NA12489,NA12717,NA12749,NA12776,NA18517,NA18526,NA18532,NA18542,NA18545,NA18547,NA18570,NA18582,NA18592,NA18603,NA18608,NA18858,NA18916,NA18947,NA18951,NA19093,NA19129,NA19137,NA19147 esv9478 14 60709177 60709255 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31919 S 1 1 0 "" SJK esv5668 14 60709275 60709353 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28109 S 1 1 0 "" SJK nsv85177 14 60725060 60725185 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103755 M 24 "" nsv902005 14 60795856 60872834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555075 S 6533 1 0 PRKCH,TMEM30B MS21188 esv1002305 14 60857474 60858488 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586916 S 3 0 1 PRKCH HuRef nsv514743 14 60901600 60907608 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628211 S 1414 0 1 PRKCH nsv1297 14 60901608 60922424 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2075 S 9 1 0 PRKCH NA18555 nsv442341 14 60901611 60909127 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PRKCH esv2422159 14 60901613 60913502 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029138,essv5032612,essv5085743,essv5064672,essv5017606,essv5049438,essv5055916,essv5070446,essv5073184,essv5107876,essv5081269,essv5139011,essv5067271,essv5147834,essv5142889,essv5142680 M 1184 0 16 PRKCH NA18852,NA18917,NA18930,NA19119,NA19141,NA19142,NA19150,NA19151,NA19172,NA19308,NA19439,NA20290,NA21408,NA21439,NA21440,NA21447 nsv517729 14 60904009 60905153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675883,nssv651676,nssv667085,nssv662759,nssv657296,nssv663170 M 2026 0 6 PRKCH nsv902006 14 60950281 61003052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556273 S 6533 0 1 PRKCH MS21868 nsv470650 14 61035122 61053696 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547583 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCH HGDP00944 nsv517477 14 61035122 61054437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685201,nssv667145,nssv667363,nssv652135,nssv670509,nssv686491,nssv671045,nssv675631,nssv658225,nssv658247,nssv659832,nssv665625,nssv692029,nssv676321,nssv688045,nssv680039 M 2026 0 16 PRKCH nsv902007 14 61135601 61198787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556443 S 6533 0 1 FLJ22447 MS22008 nsv902008 14 61218661 61309325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583541 S 6533 0 1 HIF1A,SNAPC1 IS36527 nsv1300 14 61274257 61318961 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9203 S 9 0 1 HIF1A,SNAPC1 NA12156 esv2490321 14 61291386 61292371 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315647 S 1 1 0 "" NA18507 nsv1301 14 61320316 61354694 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2919 S 9 1 0 SNAPC1 NA18555 esv1990361 14 61346898 61347345 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604670 S 1 0 1 "" NA18507 nsv1302 14 61354579 61399295 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9204 S 9 0 1 "" NA12156 esv270940 14 61357615 61357700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514459 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv2579499 14 61365159 61366643 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252794 S 1 0 1 "" NA18507 nsv517886 14 61454930 61467198 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695294 S 2026 1 0 "" nsv1303 14 61518726 61553465 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1198 S 9 1 0 SYT16 NA19240 esv2607244 14 61527649 61527809 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314660 S 1 0 1 "" NA18507 nsv456321 14 61632399 61655706 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533663 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ43390,SYT16 HGDP01418 esv2422467 14 61642463 61804085 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161436 S 181 0 1 FLJ43390 ND03096 nsv902009 14 61697533 61800148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538953 S 6533 1 0 "" MS13871 nsv902010 14 61697533 61871404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527117,nssv1540219 M 6533 2 0 "" MS14737,SP58166 nsv442342 14 61725259 61734091 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv902011 14 61780618 61942240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593208 S 6533 0 1 "" IS39372 nsv521562 14 61791315 61792989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698177 S 2026 0 1 "" nsv832813 14 61826973 62040058 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451002 S 95 1 0 "" nsv456322 14 61833100 61875913 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533664 S 1557 0 1 "" NINDS_228 nsv902012 14 61833100 61903050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586791 S 6533 0 1 "" IS37979 esv2355277 14 61861013 61861445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904129 S 1 0 1 "" NA18507 esv1273274 14 61920474 61920532 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724437 S 2 0 1 "" HuRef nsv902013 14 61972945 62032862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521918 S 6533 1 0 "" SP52633 nsv525623 14 62038148 62038417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701771 S 2026 0 1 "" nsv523444 14 62078824 62169922 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699200 S 2026 1 0 "" esv27692 14 62131161 62135492 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17476 S 451 0 1 "" NA18517 nsv517094 14 62131673 62133750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677864,nssv658064,nssv670644,nssv684222,nssv686529,nssv663471,nssv669502,nssv662163,nssv685349,nssv671471,nssv658209,nssv684688,nssv691869,nssv676173,nssv654566,nssv692117,nssv690098,nssv669707,nssv657785,nssv661743,nssv687517,nssv692705,nssv653776,nssv653856,nssv666205,nssv680425,nssv657274,nssv680507,nssv669925,nssv669657 M 2026 0 30 "" esv2017751 14 62136241 62136621 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885748 S 1 0 1 "" NA18507 nsv507755 14 62150783 62156783 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619130 S 4 1 0 "" NA10860 nsv902014 14 62207382 62248388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542872 S 6533 0 1 KCNH5 MS15925 nsv527675 14 62238300 62281033 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704150 S 2026 1 0 KCNH5 nsv507756 14 62283755 62289755 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619131,nssv617889,nssv620567,nssv623171 M 4 4 0 KCNH5 CHM,NA10860,NA15510,NA18994 esv1128942 14 62291445 62291445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863868 S 2 1 0 KCNH5 HuRef esv2497499 14 62295508 62296689 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282783 S 1 1 0 KCNH5 NA18507 esv274258 14 62296019 62296113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579088 S 7 1 0 Samples from several populations that are part of the HapMap project. KCNH5 NA19239 esv270248 14 62296019 62296309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558125,essv2565626,essv2536803,essv2543927,essv2571078,essv2556767,essv2568154,essv2523265,essv2577595,essv2548414,essv2576680,essv2525536,essv2552171,essv2578025,essv2553693,essv2559603,essv2565540,essv2576336,essv2537345,essv2528367,essv2546896,essv2557336,essv2532191,essv2569826,essv2544584,essv2552752,essv2538457,essv2540244,essv2524502,essv2534743,essv2560143,essv2522195,essv2531081,essv2532852,essv2567928,essv2541606,essv2569870,essv2563905,essv2572345,essv2558998,essv2578260,essv2533450,essv2527477,essv2557731,essv2534183,essv2574734,essv2535946,essv2548945,essv2547831,essv2563532 M 157 50 0 Samples from several populations that are part of the HapMap project. KCNH5 NA06986,NA07037,NA07347,NA10847,NA10851,NA11829,NA11920,NA11992,NA11993,NA11994,NA11995,NA12004,NA12043,NA12045,NA12154,NA12156,NA12489,NA12761,NA12763,NA12776,NA12812,NA12814,NA12878,NA12891,NA12892,NA18499,NA18505,NA18520,NA18526,NA18542,NA18547,NA18552,NA18555,NA18561,NA18570,NA18571,NA18573,NA18576,NA18577,NA18592,NA18593,NA18603,NA18609,NA18638,NA18940,NA18944,NA18952,NA18953,NA18959,NA19138 esv1264722 14 62296050 62296050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017141 S 2 1 0 KCNH5 HuRef nsv902015 14 62331615 62426006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544479 S 6533 0 1 KCNH5 MS16355 esv275351 14 62396537 62401836 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585184 S 1250 0 1 KCNH5 dgv137n21 14 62470539 63226870 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527251,nsv520528 M 2026 2 0 GPHB5,KCNH5,PPP2R5E,RHOJ,SGPP1,WDR89 nsv902016 14 62481363 62508786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593748 S 6533 0 1 KCNH5 IS39512 esv21487 14 62583382 62584086 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17709 S 451 0 1 KCNH5 NA19114 nsv1304 14 62660407 62704746 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2076 S 9 0 1 "" NA18555 esv260004 14 62662385 62669779 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400823 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18952 nsv826962 14 62663613 62667572 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429391 S 31 1 0 "" AK12 nsv902017 14 62673941 62744585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553280 S 6533 0 1 RHOJ MS19891 esv6977 14 62691353 62691605 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29418 S 1 0 1 "" SJK nsv826963 14 62793666 62794550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425313,nssv1428636,nssv1422147,nssv1436161,nssv1438436,nssv1435398,nssv1423738 M 31 0 7 RHOJ AK10,AK2,NA18566,NA18942,NA18951,NA18997,NA18999 esv28040 14 62793848 62794407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17255 S 451 0 2 RHOJ NA06985,NA19240 nsv516899 14 62804252 62822831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654751,nssv684799 M 2026 0 2 RHOJ nsv521404 14 62810866 62827859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698014 S 2026 0 1 RHOJ nsv832815 14 62819811 62983653 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451003 S 95 1 0 GPHB5,PPP2R5E,RHOJ dgv87e55 14 62824116 62941169 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751279,esv2751280,esv2751281 M 771 3 0 GPHB5,PPP2R5E,RHOJ BEC_316,BEC_335,BEC_560 esv6302 14 62824487 62824545 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28743 S 1 1 0 RHOJ SJK nsv519574 14 62837564 62927561 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682432,nssv674276,nssv656933,nssv663394,nssv682639,nssv677725 M 2026 6 0 GPHB5,PPP2R5E dgv257n27 14 62845437 62927561 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456324,nsv456325 M 1557 2 0 GPHB5,PPP2R5E 1780854257_A,1780862274_A dgv88e55 14 62848864 62925328 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751284,esv2751283,esv2751282 M 771 3 0 GPHB5,PPP2R5E BEC_330,BEC_636,BEC_727 esv2504335 14 62856279 62857610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167572 S 1 0 1 "" NA18507 nsv902018 14 62856411 62954737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585743,nssv1577809 M 6533 0 2 PPP2R5E IS34572,IS37639 esv2239710 14 62856730 62857447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555207 S 1 0 1 "" NA18507 esv8243 14 62856932 62857266 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30684 S 1 0 1 "" SJK nsv84684 14 62856933 62857264 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103262 M 24 "" esv2241548 14 62886454 62886880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632212 S 1 0 1 "" NA18507 esv2533003 14 62956757 62958321 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250893 S 1 0 1 PPP2R5E NA18507 esv2120827 14 62957047 62957768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737372 S 1 0 1 PPP2R5E NA18507 esv3298 14 62957170 62957730 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25739 S 1 0 1 Single Asian sample YH PPP2R5E YH nsv528691 14 63138559 63168308 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705334 S 2026 1 0 WDR89 nsv507757 14 63274942 63280942 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620568 S 4 1 0 "" NA15510 nsv85616 14 63283914 63284732 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104194 M 24 "" esv993694 14 63288688 63288745 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583921 S 3 0 1 "" HuRef nsv509537 14 63312488 63364285 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619649,nssv623664,nssv621003 M 4 3 0 "" NA10860,NA15510,NA18994 nsv1305 14 63312676 63353169 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1199,nssv10017,nssv5504,nssv4117 M 9 4 0 "" NA12878,NA18956,NA19129,NA19240 esv990302 14 63338556 63338592 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563623 S 3 1 0 "" HuRef esv1606003 14 63338670 63338670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182898 S 2 1 0 "" HuRef nsv826965 14 63430527 63436365 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434700 S 31 0 1 SYNE2 NA18570 nsv902019 14 63465322 63952133 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501752 S 6533 1 0 ESR2,MTHFD1,SYNE2,TEX21P SP51021 nsv1306 14 63471060 63504417 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1200 S 9 1 0 SYNE2 NA19240 nsv507758 14 63489900 63495900 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620569 S 4 1 0 SYNE2 NA15510 nsv456326 14 63490166 63824114 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533667 S 1557 1 0 ESR2,SYNE2 1780854492_A nsv902020 14 63504041 63576294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597958 S 6533 0 1 SYNE2 IS41317 esv1069906 14 63574156 63574238 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039962 S 2 0 1 SYNE2 HuRef esv269192 14 63645211 63645551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515296,essv2516153 M 157 2 0 Samples from several populations that are part of the HapMap project. SYNE2 NA12249,NA12873 nsv902021 14 63717399 63785547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560860 S 6533 0 1 ESR2,SYNE2 MS24736 nsv524908 14 63769798 63773346 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700919 S 2026 1 0 ESR2 nsv1307 14 63811790 63857068 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9205 S 9 0 1 ESR2 NA12156 esv2351050 14 63863683 63864152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678531 S 1 0 1 ESR2 NA18507 nsv84862 14 63883695 63888290 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103440 M 24 TEX21P nsv902022 14 63996334 64028391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501647 S 6533 1 0 AKAP5,MTHFD1,ZBTB25 SP51021 nsv521823 14 64039095 64065447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694595 S 2026 0 1 ZBTB1,ZBTB25 nsv826966 14 64069270 64069925 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437010 S 31 1 0 ZBTB1 NA18542 nsv1308 14 64070693 64102391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9206 S 9 1 0 C14orf50,HSPA2 NA12156 esv25548 14 64084537 64090168 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12236 S 451 3 0 C14orf50 NA11993,NA12156,NA12239 esv268621 14 64084765 64085113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516727,essv2517058,essv2514195,essv2515457,essv2518493,essv2515089,essv2516539,essv2515596,essv2517917,essv2515848,essv2514388,essv2517571 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12043,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878 esv274181 14 64084765 64085113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581375 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv442343 14 64085406 64089282 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C14orf50 esv1008915 14 64186947 64196486 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564365 S 3 0 1 "" HuRef nsv84526 14 64207606 64207606 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103104 M 24 "" nsv1309 14 64218080 64251403 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5505 S 9 1 0 PLEKHG3 NA19129 dgv1944n71 14 64270574 64314703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902024,nsv902023 M 6533 0 2 PLEKHG3,SPTB MS10311,MS18276 esv2235568 14 64284455 64284908 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509917 S 1 0 1 SPTB NA18507 nsv902025 14 64299117 64315934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543645 S 6533 0 1 SPTB MS16153 nsv519823 14 64299812 64311686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697069 S 2026 0 1 SPTB dgv639e1 14 64324218 64341533 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8271,esv926 M 271 0 0 SPTB NA19153 nsv516768 14 64347643 64349697 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670712,nssv656917 M 2026 2 0 SPTB nsv521286 14 64347643 64351697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697888 S 2026 0 1 SPTB nsv516238 14 64397041 64428329 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692960,nssv666992 M 2026 2 0 "" nsv1311 14 64422475 64449555 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6597 S 9 0 1 "" NA12156 nsv510638 14 64422778 64438051 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617414,nssv618917,nssv622686 M 4 0 3 "" CHM,NA10860,NA18994 esv993830 14 64427268 64433637 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565229 S 3 0 1 "" HuRef nsv512363 14 64429975 64433354 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624949 S 1 0 1 "" 1 esv9140 14 64430136 64433305 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31581 S 1 0 1 "" SJK esv993632 14 64430139 64433292 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585850 S 3 0 1 "" HuRef nsv498829 14 64430139 64433304 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585690 S 9 0 1 "" esv1054871 14 64430149 64433303 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677691 S 2 0 1 "" HuRef esv33119 14 64491244 64504182 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100768,essv100085 M 51 2 0 CHURC1-FNTB,RAB15 21656,22086 esv21993 14 64502093 64507805 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11173 S 451 1 0 CHURC1-FNTB,RAB15 NA18858 nsv832816 14 64542997 64714398 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451004 S 95 1 0 CHURC1-FNTB,FNTB,LOC100506321,MAX,MIR4706 esv2506970 14 64596028 64597569 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306508 S 1 0 1 CHURC1-FNTB,FNTB,MAX NA18507 esv989058 14 64671538 64677551 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564224 S 3 0 1 "" HuRef esv25949 14 64676323 64677672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13903 S 451 0 4 "" NA06985,NA12004,NA12828,NA18909 nsv1312 14 64687844 64704899 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5506 S 9 1 0 "" NA19129 nsv832817 14 64706822 64880159 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451005,nssv1451007 M 95 1 1 MIR4708 esv992816 14 64748382 64756349 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565591 S 3 0 1 "" HuRef nsv832818 14 64776612 64952073 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451008 S 95 1 0 FUT8,LOC645431,MIR4708 esv21966 14 64779011 64782721 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18660 S 451 0 2 "" NA11995,NA12749 nsv516371 14 64779964 64782173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673503,nssv692053,nssv672370,nssv689894,nssv689237,nssv668507,nssv678389,nssv667841,nssv683669 M 2026 0 9 "" nsv817636 14 64779964 64782173 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415788,nssv1415789 M 112 0 2 "" NA12865,NA12874 esv271805 14 64797173 64797302 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512565,essv2494282,essv2501332,essv2506958,essv2506411,essv2502237 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18502,NA19093,NA19102,NA19108,NA19257 dgv373n67 14 64802352 64812632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv826967,nsv826968 M 31 3 0 "" AK10,AK4,NA18972 nsv442344 14 64804950 64812189 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817637 14 64805110 64810519 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417230 S 112 1 0 "" NA18576 nsv515522 14 64816319 64840863 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654386,nssv679167,nssv670449,nssv679494,nssv690255,nssv681754,nssv676484,nssv666296,nssv689550,nssv679353,nssv665307,nssv661252,nssv678881,nssv672156,nssv658440,nssv675842,nssv661048,nssv659113,nssv680286,nssv693981,nssv685398,nssv660195,nssv668449,nssv653450,nssv670586,nssv679920,nssv664892,nssv674384,nssv657532,nssv676196,nssv675725,nssv658852,nssv678644,nssv662653,nssv665039,nssv675071,nssv690864,nssv663319,nssv691645,nssv655627,nssv688480,nssv672028,nssv656028,nssv657808,nssv664365,nssv691692,nssv690494,nssv686866 M 2026 0 48 "" nsv513704 14 64910515 64912811 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626956 S 1 0 0 "" 1 nsv513705 14 64912490 64915594 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626957 S 1 0 0 "" 1 nsv510639 14 64923636 64954068 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620075 S 4 0 1 FUT8,LOC645431 NA15510 nsv7255 14 64966435 64997545 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1201 S 9 0 0 FUT8 NA19240 nsv456327 14 65025270 65122654 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533668 S 1557 0 1 FUT8 1780862206_A nsv832819 14 65027702 65175772 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451009 S 95 1 0 FUT8 esv2413773 14 65095824 65096262 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673204 S 1 0 1 FUT8 NA18507 nsv902026 14 65130773 65241294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565856 S 6533 0 1 FUT8 IS30531 nsv517316 14 65143464 65146283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681099,nssv669963,nssv682129,nssv672810,nssv657017,nssv689869,nssv652529,nssv668171,nssv687906,nssv684780,nssv677960,nssv685795,nssv652818,nssv651690,nssv664869,nssv686135,nssv683740,nssv689916,nssv661534,nssv654425,nssv665063,nssv690952,nssv660224,nssv688954,nssv654802,nssv693741,nssv683318,nssv686019,nssv670267,nssv663148,nssv692510,nssv664685,nssv685065,nssv656160,nssv691973,nssv682765,nssv680645 M 2026 0 37 FUT8 esv1713819 14 65147669 65147723 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741452 S 2 0 1 FUT8 HuRef esv1385928 14 65228937 65228987 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212939 S 2 0 1 FUT8 HuRef nsv509538 14 65315701 65360549 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619650 S 4 1 0 "" NA10860 esv1485782 14 65328062 65328062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161190 S 2 1 0 "" HuRef esv7609 14 65328085 65328161 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30050 S 1 1 0 "" SJK nsv456328 14 65329147 65357727 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533669 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00696 esv272702 14 65332877 65333236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580765,essv2579240,essv2579752 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270097 14 65332882 65333229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505151,essv2502329,essv2499490,essv2501652,essv2505034,essv2513235,essv2495944,essv2495130,essv2502659,essv2500707,essv2501754,essv2498194,essv2495786 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11995,NA12004,NA12044,NA12144,NA12828,NA18907,NA18961,NA18964,NA18965,NA18973,NA19239,NA19240 nsv519255 14 65365960 65369348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696750 S 2026 0 1 "" nsv832820 14 65380599 65432598 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451010,nssv1451011 M 95 1 1 "" nsv1313 14 65479814 65507050 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9207 S 9 0 1 "" NA12156 nsv1314 14 65748756 65793437 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2077 S 9 0 1 "" NA18555 nsv826969 14 65795700 65796229 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426112 S 31 1 0 "" AK4 nsv85078 14 65880383 65880694 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103656 M 24 "" esv6689 14 65880397 65880694 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29130 S 1 0 1 "" SJK nsv525460 14 65920938 66696347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701588 S 2026 0 1 GPHN,LINC00238 nsv521739 14 65950115 66000011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694504 S 2026 0 1 "" esv271835 14 66004177 66004517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519122,essv2513890,essv2518374 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19143,NA19240 esv272977 14 66004177 66004517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581146 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv1945n71 14 66045610 66128984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902027,nsv902029,nsv902028 M 6533 0 4 GPHN SP52093,SP54490,SP55878,SP57270 nsv528657 14 66060920 66094717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705291 S 2026 0 1 GPHN nsv1315 14 66063737 66088927 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5507 S 9 1 0 GPHN NA19129 nsv902030 14 66070257 66106503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518177 S 6533 0 1 GPHN SP57469 nsv902031 14 66085307 66128984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515910 S 6533 0 1 GPHN SP56307 esv269830 14 66099572 66099714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503298,essv2500757 M 157 2 0 Samples from several populations that are part of the HapMap project. GPHN NA18542,NA18973 nsv510640 14 66140173 66155146 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617415 S 4 0 1 GPHN CHM nsv85250 14 66165713 66165713 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103828 M 24 GPHN nsv524441 14 66173332 66177823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700372 S 2026 0 1 GPHN dgv1946n71 14 66199191 66270929 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902033,nsv902032 M 6533 0 2 GPHN SP53041,SP55683 dgv1947n71 14 66210429 66262776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902039,nsv902034,nsv902036,nsv902037,nsv902041,nsv902040 M 6533 0 15 GPHN SP50120,SP51449,SP52131,SP52858,SP54622,SP55565,SP55642,SP55747,SP55996,SP56185,SP56207,SP56289,SP57336,SP57367,SP57379 dgv1948n71 14 66210429 66406232 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902038,nsv902035 M 6533 0 2 GPHN SP54490,SP57270 esv1426305 14 66219848 66219848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993951 S 2 1 0 GPHN HuRef nsv85719 14 66219877 66219877 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104297 M 24 GPHN nsv1316 14 66222289 66253370 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2078 S 9 1 0 GPHN NA18555 esv7064 14 66240181 66241624 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29505 S 1 0 0 GPHN SJK esv997182 14 66250346 66253063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564015 S 3 0 1 GPHN HuRef esv998272 14 66277800 66279429 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565598 S 3 1 0 GPHN HuRef dgv1949n71 14 66283522 66434516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902044,nsv902054,nsv902046,nsv902042,nsv902045 M 6533 0 5 GPHN SP52093,SP53041,SP53687,SP55878,SP56004 nsv510641 14 66284730 66296355 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618919 S 4 0 1 GPHN NA10860 nsv902043 14 66286844 66340994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517358 S 6533 0 1 GPHN SP57266 dgv1950n71 14 66297664 66360907 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902052,nsv902047 M 6533 0 3 GPHN SP52131,SP55683,SP56307 dgv1951n71 14 66297664 66393979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902048,nsv902050,nsv902053 M 6533 0 3 GPHN SP50120,SP55996,SP56185 dgv1952n71 14 66298424 66344363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902051,nsv902049 M 6533 0 2 GPHN SP56132,SP57443 nsv902055 14 66331574 66360907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514804 S 6533 0 1 GPHN SP56084 nsv902056 14 66331574 66378653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506712 S 6533 0 1 GPHN SP54395 nsv902057 14 66346063 66378653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513350,nssv1500672 M 6533 0 2 GPHN SP50144,SP55747 dgv1953n71 14 66379948 66830291 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902058,nsv902060,nsv902059 M 6533 0 7 FAM71D,GPHN,MPP5 IS31041,IS31179,IS35771,IS35911,IS39011,IS39464,MS23670 esv2751285 14 66434500 66956534 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982515,essv6988546,essv6982516,essv6986197,essv6986198 M 771 1 0 ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5,PLEK2 BEC_462 nsv1317 14 66471122 66502321 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1202,nssv10018 M 9 2 0 GPHN NA18956,NA19240 dgv1954n71 14 66488625 66552382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902061,nsv902062 M 6533 0 2 GPHN SP55878,SP56004 nsv902063 14 66505320 66529307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512617,nssv1514705,nssv1513091 M 6533 0 3 GPHN SP55565,SP55683,SP56047 nsv902064 14 66511160 66555393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505063 S 6533 0 1 GPHN SP53041 esv2517679 14 66565679 66567068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207960 S 1 0 1 GPHN NA18507 nsv832821 14 66660171 66897922 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451012 S 95 1 0 ATP6V1D,EIF2S1,FAM71D,GPHN,MPP5 nsv456331 14 66802614 67173533 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533672 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARG2,ATP6V1D,EIF2S1,MPP5,PIGH,PLEK2,PLEKHH1,TMEM229B HGDP00650 nsv470651 14 66802614 67183046 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547584 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARG2,ATP6V1D,EIF2S1,MPP5,PIGH,PLEK2,PLEKHH1,TMEM229B HGDP00650 nsv902065 14 66809038 66889355 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507411,nssv1506237 M 6533 2 0 ATP6V1D,MPP5 SP54083,SP54577 nsv84764 14 66820915 66821017 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103342 M 24 MPP5 esv2439123 14 66825146 66826603 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240225 S 1 0 1 MPP5 NA18507 nsv509539 14 66920036 66941818 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618107 S 4 1 0 EIF2S1,PLEK2 CHM nsv1318 14 66930052 66943549 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1203 S 9 1 0 PLEK2 NA19240 nsv1319 14 66933314 66978478 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9208 S 9 0 1 PLEK2 NA12156 nsv902066 14 66942881 67173533 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573397 S 6533 1 0 ARG2,PIGH,PLEK2,PLEKHH1,TMEM229B IS33345 nsv902067 14 67004959 67023601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503990 S 6533 1 0 TMEM229B SP52147 nsv1320 14 67008477 67053910 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6598 S 9 0 1 TMEM229B NA12156 nsv526811 14 67016665 67018827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703165 S 2026 0 1 TMEM229B nsv1322 14 67017578 67051071 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2920 S 9 1 0 TMEM229B NA18555 nsv826970 14 67036274 67041212 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427037 S 31 1 0 TMEM229B AK6 esv996460 14 67053858 67054494 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586535 S 3 0 1 "" HuRef esv25556 14 67053858 67054873 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16157 S 451 0 5 "" NA11894,NA11993,NA11995,NA12239,NA18858 dgv138n21 14 67125637 67127629 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516552,nsv519078 M 2026 0 3 PIGH,PLEKHH1 nsv902068 14 67152886 67274629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557882 S 6533 1 0 ARG2,RDH11,RDH12,VTI1B MS22962 nsv521832 14 67210762 67274629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694605 S 2026 0 1 RDH11,RDH12,VTI1B nsv1323 14 67290453 67300450 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5508 S 9 1 0 ZFYVE26 NA19129 esv272299 14 67373715 67374065 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580209,essv2580450,essv2579843 M 7 3 0 Samples from several populations that are part of the HapMap project. RAD51B NA12878,NA12891,NA12892 nsv518669 14 67424295 67432263 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696119 S 2026 1 0 RAD51B dgv36n6 14 67446758 67446917 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv84443,nsv85148 M 24 RAD51B esv2439284 14 67488538 67490056 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304548 S 1 0 1 RAD51B NA18507 nsv85157 14 67569373 67572964 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103735 M 24 RAD51B nsv85709 14 67608550 67608550 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104287 M 24 RAD51B esv2489967 14 67672078 67674119 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208089 S 1 0 1 RAD51B NA18507 nsv512364 14 67672560 67673694 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624950 S 1 0 1 RAD51B 1 esv2315033 14 67672623 67673666 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743853 S 1 0 1 RAD51B NA18507 esv1003046 14 67672785 67673484 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580652 S 3 0 1 RAD51B HuRef nsv85056 14 67672785 67673484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103634 M 24 RAD51B esv9245 14 67672808 67673492 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31686 S 1 0 1 RAD51B SJK esv1205109 14 67672811 67673511 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285658 S 2 0 1 RAD51B HuRef nsv510383 14 67785869 67791869 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618406 S 4 0 1 RAD51B CHM nsv1324 14 67844163 67858387 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1204 S 9 1 0 RAD51B NA19240 esv274001 14 67853961 67860053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584844,essv2583503 M 7 2 0 Samples from several populations that are part of the HapMap project. RAD51B NA19239,NA19240 esv270991 14 67853961 67860079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512547,essv2502950,essv2494872,essv2505331,essv2505834,essv2501338,essv2510454,essv2499828,essv2501992,essv2498055,essv2502010 M 157 11 0 Samples from several populations that are part of the HapMap project. RAD51B NA18489,NA18507,NA18520,NA18853,NA18861,NA19093,NA19172,NA19225,NA19239,NA19240,NA19257 nsv1325 14 67858932 67892449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9209 S 9 1 0 RAD51B NA12156 nsv85374 14 67866471 67867837 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103952 M 24 RAD51B esv1361357 14 67892923 67892923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147411 S 2 1 0 RAD51B HuRef nsv832822 14 67944393 68130025 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451025,nssv1451018,nssv1451013,nssv1451024,nssv1451020,nssv1451019,nssv1451021,nssv1451022,nssv1451023,nssv1451034,nssv1451033,nssv1451027,nssv1451026,nssv1451036,nssv1451029,nssv1451032,nssv1451031,nssv1451030,nssv1451037,nssv1451038,nssv1451035,nssv1451016,nssv1451015,nssv1451014 M 95 0 24 RAD51B nsv1326 14 67957728 67989181 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5509 S 9 1 0 RAD51B NA19129 esv28449 14 67971568 67975784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14631 S 451 0 1 RAD51B NA18909 nsv525928 14 67973812 67975727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702132 S 2026 0 1 RAD51B nsv1327 14 68001986 68036057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4118 S 9 1 0 RAD51B NA12878 esv2198876 14 68064940 68065409 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4609184 S 1 0 1 RAD51B NA18507 esv999446 14 68065142 68065215 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577578 S 3 0 1 RAD51B HuRef esv1041303 14 68065147 68065221 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099769 S 2 0 1 RAD51B HuRef nsv521761 14 68066219 68071073 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694529 S 2026 1 0 RAD51B nsv516239 14 68080443 68095623 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666993,nssv654993 M 2026 2 0 RAD51B nsv1328 14 68099375 68108279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5510 S 9 1 0 RAD51B NA19129 nsv902069 14 68138137 68147210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546846 S 6533 0 1 "" MS17208 nsv516614 14 68139347 68147210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656205,nssv697454,nssv671929,nssv699562,nssv699319,nssv704188,nssv674336,nssv669577,nssv656541,nssv674631,nssv675364 M 2026 0 11 "" esv270774 14 68178005 68178090 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518669,essv2518509,essv2514441,essv2513863 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12287,NA12874,NA19143 nsv1329 14 68212229 68246740 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9210 S 9 0 1 "" NA12156 nsv516770 14 68274621 68279812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670853,nssv662422,nssv685532,nssv683016,nssv670733 M 2026 0 5 "" esv1009490 14 68275174 68275174 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580621 S 3 1 0 "" HuRef nsv523795 14 68286165 68289649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699623 S 2026 0 1 "" nsv456332 14 68286165 68299833 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533673 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00777 nsv902070 14 68313967 68377935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546847 S 6533 0 1 ZFP36L1 MS17208 dgv1955n71 14 68358185 68400818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902072,nsv902073,nsv902071 M 6533 0 3 "" IS31390,IS32679,IS35803 nsv518793 14 68398902 68401406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696246 S 2026 0 1 "" esv1009127 14 68399283 68402944 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564274 S 3 1 0 "" HuRef nsv513410 14 68402502 68402639 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625808 S 1 1 0 "" 1 nsv85448 14 68402582 68405422 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104026 M 24 "" nsv902074 14 68409444 68430384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543646 S 6533 0 1 ACTN1 MS16153 nsv832823 14 68458606 68637391 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451041,nssv1451040 M 95 0 2 ACTN1,DCAF5 nsv456333 14 68462198 68485715 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533674 S 1557 0 1 ACTN1 1782681216_A nsv515850 14 68540024 68540186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661600,nssv665010 M 2026 0 2 "" nsv1330 14 68558330 68576512 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2921,nssv9212 M 9 2 0 "" NA12156,NA18555 nsv507759 14 68561953 68567953 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623172 S 4 1 0 "" NA18994 nsv499313 14 68564614 68564680 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586248 S 9 1 0 "" esv1001846 14 68564801 68567433 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563720 S 3 1 0 "" HuRef nsv1331 14 68594683 68627011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10019 S 9 1 0 DCAF5 NA18956 nsv1333 14 68808436 68851770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9213,nssv1205 M 9 2 0 GALNTL1 NA12156,NA19240 esv259522 14 68849970 68850330 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393956,essv2393821 M 6 0 0 Samples from several populations that are part of the HapMap project. GALNTL1 NA12891,NA12892 esv260033 14 68849973 68850340 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400225,essv2394762,essv2399097,essv2396555,essv2399832,essv2398921,essv2396671,essv2398670,essv2396695,essv2398277,essv2399164,essv2401064,essv2396905,essv2400707,essv2394957,essv2394413,essv2396206,essv2395126 M 144 0 0 Samples from several populations that are part of the HapMap project. GALNTL1 NA07037,NA07357,NA10851,NA11919,NA11994,NA11995,NA12414,NA12489,NA12750,NA12763,NA12776,NA12891,NA12892,NA18542,NA18545,NA18943,NA18944,NA18953 nsv528359 14 68858656 68860142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704946 S 2026 0 1 GALNTL1 nsv526398 14 68940171 68940697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702697 S 2026 0 1 SLC39A9 nsv456335 14 68998060 69041351 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533675 S 1557 1 0 PLEKHD1,SLC39A9 NINDS_146 nsv510642 14 69053046 69100088 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620076 S 4 0 1 PLEKHD1 NA15510 nsv94 14 69072118 69100168 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv94 S 1 0 1 "" NA15510 nsv1334 14 69072118 69102394 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10919,nssv1207 M 9 0 2 "" NA15510,NA19240 nsv9151 14 69086153 69093426 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22940,nssv22149,nssv23978,nssv20312 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA12740,NA19144,NA19240 esv25900 14 69086625 69092295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11835 S 451 0 10 "" NA06985,NA11995,NA12044,NA12287,NA12749,NA12828,NA15510,NA19225,NA19240,NA19257 nsv498830 14 69086745 69092244 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585691 S 9 0 1 "" esv2421928 14 69087590 69092220 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5125794,essv5023835,essv5088595,essv5003065,essv5148767,essv5115076,essv5081194,essv5120698,essv5102559,essv5087016,essv5084383,essv5083349,essv5094849,essv5003304,essv5030471,essv5006199,essv5114096,essv5022648,essv5102966,essv5105264,essv5147832,essv5049550,essv5088183,essv5095622,essv5010583,essv5024297,essv5067670,essv5026539,essv5069272,essv5123674,essv5111698,essv5086794,essv5098807,essv5021697,essv5083507,essv5110343,essv5146347,essv5139080,essv5012075,essv5037488,essv5005830,essv5124828,essv5090309,essv5099072,essv5121290,essv5129972,essv5138108,essv5093384,essv5152603,essv5071443,essv5007527,essv5131864,essv5134536,essv5024066,essv5150407,essv5083261,essv5012789,essv5119648,essv5088284,essv5118288,essv5122734,essv5144369,essv5137630,essv5111784,essv5008680,essv5112654,essv5090603,essv5019865,essv5101541,essv5126868,essv5066255,essv5088747,essv5106571,essv5079727,essv5061916,essv5046189,essv5114436,essv5143713,essv5052172,essv5014126,essv5098505,essv5030466,essv5087067,essv5095867,essv5080943,essv5020961,essv5027652,essv5098452,essv5048335,essv5060230,essv5046699,essv5155821,essv5023887,essv5129803,essv5051622,essv5135625,essv5160861,essv5017787,essv5052958,essv5008754,essv5009212,essv5093361,essv5141872,essv5084887,essv5139530,essv5093121,essv5007252,essv5112663,essv5096476,essv5068763,essv5049327,essv5157933,essv5060189,essv5079871,essv5071555,essv5054970,essv5078697,essv5039520,essv5020407,essv5021398,essv5149602,essv5017702,essv5085431,essv5148524,essv5088951,essv5103547,essv5040949,essv5080431,essv5041353,essv5152651,essv5044419,essv5113178,essv5149384,essv5081152,essv5057157,essv5140679,essv5111119,essv5091435,essv5115520,essv5115918,essv5064427,essv5146746,essv5091464,essv5114909,essv5014182,essv5014806,essv5082154,essv5155131,essv5109356,essv5009222,essv5126072,essv5073987,essv5079825,essv5107091,essv5151502,essv5129723,essv5057754,essv5159255,essv5114642,essv5046813,essv5021733,essv5036843,essv5101503,essv5003204,essv5016766,essv5016065,essv5088287,essv5153972,essv5029231,essv5133430,essv5079245,essv5129989,essv5062996,essv5027795,essv5019652,essv5133891,essv5118083,essv5113575,essv5038123,essv5035802,essv5134011,essv5117317,essv5139405,essv5051809,essv5031452,essv5069566,essv5083549,essv5096169,essv5160260,essv5061055,essv5144150,essv5026045,essv5027933,essv5107784,essv5137321,essv5083943,essv5067173,essv5088347,essv5138968,essv5121069,essv5156152,essv5004956,essv5127303,essv5099724,essv5154070,essv5068071,essv5157616,essv5019337,essv5125834,essv5023987,essv5102436,essv5048033,essv5058635,essv5124210,essv5075687,essv5056435,essv5114034,essv5030848,essv5123492,essv5044695,essv5084060,essv5129198,essv5133967,essv5082940,essv5039954,essv5152582,essv5100537,essv5095386,essv5076401,essv5082347,essv5088121,essv5147827,essv5098117,essv5131666,essv5052030 M 1184 0 235 "" NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA07029,NA07345,NA07346,NA07349,NA07435,NA10843,NA10855,NA10861,NA11831,NA11832,NA11891,NA11919,NA11920,NA11995,NA12044,NA12144,NA12234,NA12273,NA12282,NA12287,NA12343,NA12375,NA12399,NA12413,NA12708,NA12740,NA12748,NA12749,NA12750,NA12767,NA12778,NA12815,NA12818,NA12828,NA12829,NA12843,NA12865,NA12874,NA12875,NA12889,NA18155,NA18484,NA18486,NA18509,NA18518,NA18520,NA18855,NA18857,NA18873,NA18910,NA18911,NA18913,NA18923,NA19038,NA19044,NA19046,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19107,NA19109,NA19117,NA19118,NA19127,NA19144,NA19153,NA19154,NA19160,NA19174,NA19176,NA19182,NA19184,NA19186,NA19197,NA19199,NA19200,NA19202,NA19206,NA19224,NA19225,NA19238,NA19240,NA19257,NA19313,NA19317,NA19360,NA19372,NA19373,NA19375,NA19377,NA19381,NA19390,NA19394,NA19399,NA19403,NA19429,NA19431,NA19434,NA19438,NA19439,NA19445,NA19446,NA19452,NA19462,NA19469,NA19471,NA19472,NA19474,NA19625,NA19651,NA19657,NA19659,NA19670,NA19676,NA19682,NA19683,NA19684,NA19686,NA19723,NA19724,NA19770,NA19780,NA19781,NA19783,NA19794,NA19909,NA19916,NA19917,NA19919,NA19921,NA20129,NA20284,NA20302,NA20319,NA20322,NA20346,NA20348,NA20357,NA20504,NA20509,NA20516,NA20520,NA20539,NA20589,NA20754,NA20757,NA20766,NA20772,NA20773,NA20786,NA20787,NA20804,NA20810,NA20812,NA20813,NA20815,NA20816,NA20818,NA20845,NA20846,NA20852,NA20869,NA20873,NA20882,NA20885,NA20888,NA20895,NA20898,NA20900,NA20901,NA21100,NA21105,NA21109,NA21116,NA21117,NA21119,NA21123,NA21125,NA21141,NA21297,NA21301,NA21302,NA21344,NA21352,NA21355,NA21362,NA21364,NA21366,NA21378,NA21379,NA21382,NA21383,NA21391,NA21400,NA21415,NA21438,NA21440,NA21442,NA21451,NA21453,NA21455,NA21457,NA21478,NA21479,NA21480,NA21509,NA21513,NA21514,NA21517,NA21519,NA21523,NA21527,NA21578,NA21583,NA21597,NA21613,NA21620,NA21632,NA21648,NA21650,NA21685,NA21686,NA21716,NA21723,NA21740,NA21784 nsv442686 14 69088121 69092220 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514744 14 69088136 69092240 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628212 S 1414 0 1 "" nsv438262 14 69089943 69091315 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470626,nssv470625,nssv470627 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA06985,NA11832,NA12875 nsv1335 14 69105879 69132337 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2079 S 9 0 1 C14orf162 NA18555 esv25683 14 69108341 69111191 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20393 S 451 0 1 "" NA12004 nsv1336 14 69150329 69161906 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5511 S 9 1 0 KIAA0247 NA19129 nsv456336 14 69151709 69643902 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533676 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA0247,LOC100289511,SLC10A1,SLC8A3,SMOC1,SRSF5 HGDP01309 nsv826971 14 69156081 69158382 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427038 S 31 0 1 KIAA0247 AK6 esv272052 14 69282413 69282498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518827,essv2515959,essv2517747 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12873,NA12878 esv274219 14 69282413 69282498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581565 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv832824 14 69390392 69581154 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451042 S 95 1 0 SLC8A3,SMOC1 nsv523796 14 69443875 69456496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699624 S 2026 0 1 SMOC1 nsv1337 14 69454442 69512929 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5512,nssv4119 M 9 2 0 SMOC1 NA12878,NA19129 esv2405310 14 69461417 69461761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597574 S 1 0 1 SMOC1 NA18507 nsv817638 14 69559433 69570726 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415699 S 112 1 0 SMOC1 NA12248 nsv519644 14 69604576 69610779 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696969 S 2026 0 1 SLC8A3 nsv832826 14 69629342 69793217 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451043 S 95 1 0 ADAM21P1,SLC8A3 esv1009218 14 69656226 69657203 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563843 S 3 1 0 SLC8A3 HuRef nsv902075 14 69682371 69988769 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551997 S 6533 1 0 ADAM21,ADAM21P1,COX16,SLC8A3,SYNJ2BP,SYNJ2BP-COX16 MS19083 nsv1338 14 69701476 69733760 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10020 S 9 1 0 SLC8A3 NA18956 esv29606 14 69757619 69759169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21350 S 451 0 5 "" NA11894,NA12044,NA12414,NA12489,NA12749 esv3294 14 69759774 69760105 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25735 S 1 0 1 Single Asian sample YH "" YH esv1698832 14 69759805 69759993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3789558 S 2 0 1 "" HuRef nsv826972 14 69787021 69795788 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429926 S 31 1 0 "" NA18947 esv1345963 14 69934504 69934504 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349220 S 2 1 0 SYNJ2BP,SYNJ2BP-COX16 HuRef esv989380 14 69948991 69948991 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572958 S 3 1 0 SYNJ2BP,SYNJ2BP-COX16 HuRef esv1691671 14 69949087 69949087 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4035323 S 2 1 0 SYNJ2BP,SYNJ2BP-COX16 HuRef esv29658 14 70116277 70119983 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12231 S 451 0 1 "" NA19225 nsv819471 14 70120762 70121608 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419100 S 2 1 0 MED6 AK1 nsv517712 14 70131302 70131709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652926,nssv692961 M 2026 0 2 MED6 nsv527969 14 70220174 70225737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704481 S 2026 0 1 "" esv275293 14 70221530 70225473 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585242,essv2586019 M 1250 1 1 "" nsv525761 14 70329844 70330060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701929 S 2026 0 1 MAP3K9 nsv1339 14 70384885 70396194 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4121 S 9 1 0 "" NA12878 nsv512365 14 70390073 70392797 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624951 S 1 0 1 "" 1 esv2240026 14 70390565 70391196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559427 S 1 0 1 "" NA18507 esv7444 14 70390707 70391014 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29885 S 1 0 1 "" SJK esv1674743 14 70390731 70391024 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008562 S 2 0 1 "" HuRef esv2590666 14 70507058 70508718 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316252 S 1 0 1 PCNX NA18507 esv2229536 14 70507379 70508098 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980228 S 1 0 1 PCNX NA18507 esv1004840 14 70507517 70508152 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564671 S 3 0 1 PCNX HuRef nsv85150 14 70507581 70507913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103728 M 24 PCNX esv1181559 14 70507589 70507922 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345767 S 2 0 1 PCNX HuRef esv7102 14 70507591 70507915 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29543 S 1 0 1 PCNX SJK nsv1340 14 70514920 70561939 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1208,nssv2922 M 9 2 0 PCNX NA18555,NA19240 esv270654 14 70550004 70550342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576059,essv2521030,essv2522816,essv2570813,essv2548617,essv2529397,essv2564732,essv2553682,essv2564017,essv2562066,essv2537209,essv2546748,essv2524430,essv2559085,essv2566601,essv2525077 M 157 16 0 Samples from several populations that are part of the HapMap project. PCNX NA07357,NA11830,NA11894,NA11931,NA11993,NA12045,NA12749,NA12751,NA12763,NA12828,NA12874,NA12878,NA12892,NA18555,NA18638,NA18948 esv273950 14 70550004 70550342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581915,essv2583129 M 7 2 0 Samples from several populations that are part of the HapMap project. PCNX NA12878,NA12892 nsv826973 14 70588546 70589143 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439264 S 31 0 1 PCNX NA18973 esv2392889 14 70604934 70605455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660846 S 1 0 1 PCNX NA18507 esv2496217 14 70605106 70605309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325174 S 1 0 1 PCNX NA18507 esv23808 14 70699776 70700485 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19757 S 451 0 1 "" NA18508 nsv832827 14 70745931 70903272 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451044 S 95 1 0 "" nsv1341 14 71018339 71050394 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1209 S 9 1 0 LOC145474 NA19240 nsv85474 14 71100972 71103926 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104052 M 24 SIPA1L1 esv32876 14 71217551 71217837 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96969 S 51 1 0 SIPA1L1 21817 nsv84708 14 71274657 71278823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103286 M 24 SIPA1L1 nsv1342 14 71330331 71375316 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9214 S 9 0 1 "" NA12156 nsv1344 14 71397435 71428407 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10022 S 9 1 0 "" NA18956 nsv1345 14 71419342 71465572 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6599 S 9 0 1 "" NA12156 esv1941080 14 71560366 71560789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958569 S 1 0 1 RGS6 NA18507 esv989746 14 71560546 71560595 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569771 S 3 0 1 RGS6 HuRef esv1245851 14 71560546 71560596 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983762 S 2 0 1 RGS6 HuRef nsv85657 14 71560547 71560596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104235 M 24 RGS6 nsv902076 14 71635409 71701970 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600297 S 6533 1 0 RGS6 IS41867 dgv1956n71 14 71646432 71701970 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902077,nsv902078,nsv902079,nsv902080 M 6533 5 0 RGS6 IS30348,IS33508,IS37837,IS40951,IS41648 nsv518009 14 71761360 71762131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695421 S 2026 0 1 RGS6 nsv437796 14 71804756 71809259 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467677 S 60 0 1 Samples from several populations that are part of the HapMap project. RGS6 NA19221 essv3245 14 71872489 71884406 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. RGS6 NA18967 dgv640e1 14 71872489 71889437 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2388,esv991 M 271 0 0 RGS6 NA18976 nsv819274 14 71875774 71880551 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419662 S 2 0 1 RGS6 AK1 nsv442345 14 71877157 71879889 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RGS6 nsv1346 14 71879713 71915210 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4122 S 9 1 0 RGS6 NA12878 esv259574 14 71981121 71981449 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394196,essv2393946,essv2393778,essv2393768,essv2394067,essv2394277 M 6 0 0 Samples from several populations that are part of the HapMap project. RGS6 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259732 14 71981126 71981456 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400201,essv2399022,essv2400321,essv2398500,essv2398066,essv2396657,essv2395409,essv2399189,essv2397295,essv2401100,essv2396947,essv2395599,essv2397624,essv2399262,essv2394995,essv2395018,essv2396111,essv2396633,essv2400699,essv2394941,essv2395511,essv2399564,essv2395081,essv2397193,essv2399861,essv2397885,essv2400438,essv2398988,essv2396859,essv2395750,essv2399441,essv2394645,essv2394904,essv2394412,essv2396193,essv2395883,essv2400789,essv2397761,essv2394551,essv2398370,essv2401015,essv2399302,essv2395224,essv2394843,essv2399770,essv2399508,essv2396340,essv2398708,essv2397236,essv2395978,essv2397046,essv2400526 M 144 0 0 Samples from several populations that are part of the HapMap project. RGS6 NA07037,NA10851,NA11881,NA11894,NA12144,NA12414,NA12749,NA12776,NA12878,NA12891,NA12892,NA18501,NA18502,NA18508,NA18511,NA18519,NA18523,NA18526,NA18542,NA18545,NA18563,NA18570,NA18571,NA18572,NA18573,NA18577,NA18592,NA18605,NA18638,NA18853,NA18858,NA18870,NA18942,NA18943,NA18944,NA18945,NA18952,NA18956,NA18965,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19190,NA19225,NA19238,NA19239,NA19240 esv9494 14 71981328 71981385 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31935 S 1 1 0 RGS6 SJK esv275248 14 72024406 72026331 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585118 S 1250 0 1 RGS6 nsv1347 14 72047953 72071006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10023 S 9 1 0 RGS6 NA18956 nsv518320 14 72093189 72101856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694225 S 2026 0 1 RGS6 nsv456337 14 72132286 72158466 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533677 S 1557 0 1 "" NINDS_21 esv24899 14 72133397 72134196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15863 S 451 0 3 "" NA11894,NA12828,NA18517 nsv456338 14 72140408 72193024 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533678 S 1557 0 1 "" NINDS_198 esv29194 14 72157195 72159235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21055 S 451 0 1 "" NA12156 nsv517683 14 72193024 72207942 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692204,nssv687150,nssv670777,nssv652836,nssv663722,nssv656775,nssv660176,nssv676737,nssv687397,nssv681826,nssv672616 M 2026 11 0 DPF3 nsv85673 14 72224696 72224772 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104251 M 24 DPF3 nsv520843 14 72251536 72255682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697645 S 2026 0 1 DPF3 esv260025 14 72338564 72340422 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398214 S 144 0 0 Samples from several populations that are part of the HapMap project. DPF3 NA18909 esv29330 14 72338667 72340275 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15921 S 451 1 0 DPF3 NA18909 esv32878 14 72402831 72403424 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93093,essv101626,essv95825,essv99049,essv96596 M 51 0 5 DPF3 21863,21909,21911,21938,22011 esv274200 14 72473218 72473303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581123 S 7 1 0 Samples from several populations that are part of the HapMap project. DCAF4 NA19240 nsv1348 14 72528948 72546105 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9215 S 9 0 1 ZFYVE1 NA12156 esv27604 14 72597859 72601352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10224 S 451 0 1 RBM25 NA11993 esv33255 14 72615927 72616516 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97582,essv95201,essv94008,essv95453,essv93047,essv95878,essv98986,essv96715,essv98001,essv96246 M 51 0 10 RBM25 21616,21721,21802,21847,21863,21911,21938,22011,22259,22371 esv27860 14 72615971 72616650 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12627 S 451 0 1 RBM25 NA11894 nsv902081 14 72700845 72810939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540466 S 6533 1 0 PAPLN,PSEN1 MS14849 nsv507760 14 72735606 72741606 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620570 S 4 1 0 PSEN1 NA15510 dgv1957n71 14 72764343 72810939 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902082,nsv902084,nsv902083 M 6533 0 4 PAPLN IS32841,MS10311,MS16153,MS18276 esv2297986 14 72773213 72773596 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606475 S 1 0 1 "" NA18507 nsv902085 14 72775229 72830604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534030 S 6533 1 0 NUMB,PAPLN MS11396 nsv516851 14 72782675 72807795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661271,nssv690264,nssv692934,nssv660177,nssv654441,nssv682593,nssv676847,nssv663723 M 2026 0 8 PAPLN nsv85914 14 72784452 72784536 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104492 M 24 PAPLN nsv85407 14 72784541 72784630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103985 M 24 PAPLN esv33062 14 72809358 72810305 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96999 S 51 1 0 PAPLN 21817 nsv513411 14 72831290 72831360 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625809 S 1 1 0 NUMB 1 esv2651254 14 72831300 72831666 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210992 S 1 1 0 NUMB NA18507 nsv513412 14 72868974 72869229 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625810 S 1 1 0 NUMB 1 dgv1958n71 14 72879970 73136565 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902087,nsv902086 M 6533 2 0 ACOT1,ACOT2,ACOT4,C14orf169,HEATR4,NUMB MS11396,MS14849 esv1057343 14 72890060 72890060 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196661 S 2 1 0 NUMB HuRef nsv826974 14 72940553 72945197 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435399 S 31 1 0 NUMB NA18942 nsv510643 14 73020213 73119401 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618920,nssv622687 M 4 0 2 ACOT1,ACOT2,C14orf169,HEATR4 NA10860,NA18994 dgv641e1 14 73030050 73196823 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11081,essv10893,essv18956,essv22670,essv6026,essv21241,essv22112,essv6138,essv12605,essv17567,essv16138,essv23182,essv9252,essv18614,essv12328,essv16962,essv11800,essv9868,essv8930,essv20059,essv14307,essv16552,essv17840,esv458,essv9395,essv15257,essv19231,essv13939,essv10619,essv11551,essv12975,essv9136,essv8145,essv14093,essv19094,essv18321,essv17153,essv17957,essv11862,essv16467,essv20163,essv7577,essv12196,essv15830,essv22327,essv15090,essv16050,essv11941,essv14558,essv8181,essv23126,essv22203,essv2813 M 271 0 0 ACOT1,ACOT2,ACOT4,ACOT6,DNAL1,HEATR4 NA06985,NA07048,NA07055,NA10831,NA10838,NA10846,NA10855,NA10857,NA11832,NA12003,NA12005,NA12044,NA12156,NA12234,NA12752,NA12762,NA12891,NA18501,NA18502,NA18521,NA18532,NA18545,NA18571,NA18853,NA18854,NA18855,NA18859,NA18860,NA18861,NA18987,NA19094,NA19098,NA19100,NA19101,NA19116,NA19128,NA19129,NA19138,NA19139,NA19144,NA19145,NA19171,NA19173,NA19194,NA19200,NA19202,NA19206,NA19209,NA19210,NA19211,NA19221,NA19223 nsv428295 14 73030050 73196823 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452492,nssv452485,nssv452488,nssv452486,nssv452491,nssv452490,nssv452495,nssv452493,nssv452494,nssv452489 M 62 10 0 ACOT1,ACOT2,ACOT4,ACOT6,DNAL1,HEATR4 HGDP00450,HGDP00986,HGDP01087,HGDP01088,NA18916,NA19096,NA19108,NA19113,NA19189,NA19257 nsv832828 14 73034707 73200904 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451046,nssv1451045 M 95 1 1 ACOT1,ACOT2,ACOT4,ACOT6,DNAL1,HEATR4 nsv9152 14 73051180 73054636 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21977,nssv23771,nssv25253,nssv21206,nssv20916,nssv22179,nssv21213,nssv21468,nssv21655,nssv22969,nssv20342,nssv24035,nssv19852 M 31 1 12 Samples from several populations that are part of the HapMap project. HEATR4 NA07029,NA07048,NA10863,NA12740,NA18504,NA18563,NA18564,NA18860,NA18942,NA18980,NA19007,NA19144,NA19240 esv2561778 14 73051703 73053404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333352 S 1 0 1 HEATR4 NA18507 nsv1349 14 73051786 73066872 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6600 S 9 1 0 HEATR4 NA12156 nsv1350 14 73055030 73105589 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9507,nssv2080,nssv4123,nssv1210,nssv10024 M 9 0 5 ACOT1,ACOT2,HEATR4 NA12878,NA18507,NA18555,NA18956,NA19240 nsv9153 14 73061866 73123483 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21256,nssv21498,nssv20874,nssv21715,nssv23798,nssv19535,nssv21528,nssv22007,nssv22037,nssv19912,nssv21350,nssv20976,nssv23825,nssv24940,nssv19882,nssv21226,nssv24769,nssv19565,nssv22998,nssv19942,nssv24762,nssv20946,nssv24744,nssv20432,nssv22035,nssv19000,nssv19030,nssv19661,nssv24748,nssv22209,nssv26766,nssv20904,nssv21243,nssv24773,nssv24089,nssv19972,nssv21236,nssv22065,nssv22328,nssv24794,nssv24062,nssv19489,nssv25278,nssv21685,nssv22049,nssv21286,nssv20372,nssv22297,nssv21634 M 31 29 13 Samples from several populations that are part of the HapMap project. ACOT1,ACOT2,HEATR4 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv821106 14 73062008 73122209 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421093 S 1 0 1 ACOT1,ACOT2,HEATR4 NA10851 nsv826976 14 73062008 73122209 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432395 S 31 0 1 ACOT1,ACOT2,HEATR4 AK20 esv29080 14 73064141 73121720 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12468,esv13164,esv16251,esv9737,esv18023,esv18980 M 451 37 4 ACOT1,ACOT2,HEATR4 NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1006342 14 73064693 73125449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564315 S 3 0 1 ACOT1,ACOT2,HEATR4 HuRef nsv514745 14 73064928 73065456 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627137 S 1414 0 0 HEATR4 nsv819138 14 73066699 73086276 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418678 S 2 0 1 ACOT1,HEATR4 AK1 dgv21n47 14 73066714 73095012 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498831,nsv498832 M 9 0 2 ACOT1,HEATR4 nsv514746 14 73066952 73068928 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627138 S 1414 0 0 HEATR4 esv2518446 14 73067031 73087332 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165462 S 1 0 1 ACOT1,HEATR4 NA18507 esv2421969 14 73068729 73097870 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060975,essv5098375,essv5081442,essv5012684,essv5154736,essv5157731,essv5069056,essv5150997,essv5012858,essv5010314,essv5027872,essv5068561,essv5032760,essv5155850,essv5040510,essv5105988,essv5073575,essv5071111,essv5046272,essv5062331,essv5031485,essv5008897,essv5078505,essv5128923,essv5078906,essv5153074,essv5039644,essv5048721,essv5039239,essv5089705,essv5133602,essv5107242,essv5117349,essv5087300,essv5019027,essv5140496,essv5139284,essv5071594,essv5048755,essv5122478,essv5070332,essv5151148,essv5062744,essv5100875,essv5027429,essv5108135,essv5071813,essv5139310,essv5100813,essv5071179,essv5091525,essv5104598,essv5148157,essv5071567,essv5098943,essv5061093,essv5005452,essv5033093,essv5019233,essv5005595,essv5113437,essv5109020,essv5011431,essv5108305,essv5090342,essv5114951,essv5148047,essv5081569,essv5007470,essv5098091,essv5107357,essv5083196,essv5103131,essv5082664,essv5061987,essv5012721,essv5090751,essv5076250,essv5019423,essv5136813,essv5102485,essv5074539,essv5023321,essv5081312,essv5044304,essv5115954,essv5044140,essv5028350,essv5070494,essv5049942,essv5090087,essv5034775,essv5023162,essv5149254,essv5099800,essv5010556,essv5061937,essv5023405,essv5009073,essv5087733,essv5072490,essv5074734,essv5059808,essv5017331,essv5098085,essv5161181,essv5128946,essv5057638,essv5120861,essv5160725,essv5118968,essv5074990,essv5026196,essv5088794,essv5156027,essv5045765,essv5006693,essv5055656,essv5009642,essv5126492,essv5018560,essv5074609,essv5144483,essv5126566,essv5027868,essv5147312,essv5065704,essv5002324,essv5080386,essv5016933,essv5076773,essv5071701,essv5073426,essv5076291,essv5029388,essv5063191,essv5141228,essv5127367,essv5132110,essv5028752,essv5013712,essv5130389,essv5144385,essv5124399,essv5150319,essv5114167,essv5132514,essv5053415,essv5064689,essv5138222,essv5141079,essv5029932,essv5018399,essv5136307,essv5064241,essv5014927,essv5148926,essv5038667,essv5075365,essv5118412,essv5086403,essv5009288,essv5160067,essv5136569,essv5109252,essv5019059,essv5039887,essv5104726,essv5064802,essv5063270,essv5093303,essv5092259,essv5019879,essv5072374,essv5161170,essv5021938,essv5146970,essv5129135,essv5085624,essv5085716,essv5054011,essv5070759,essv5061498,essv5022279,essv5125420,essv5070860,essv5151215,essv5081722,essv5092249,essv5114616,essv5133849,essv5142770,essv5127960,essv5036230,essv5039460,essv5006146,essv5087802,essv5051122,essv5064424,essv5070884,essv5024665,essv5030168,essv5126000,essv5152329,essv5146246,essv5155037,essv5027532,essv5021340,essv5072381,essv5156153,essv5160446,essv5042087,essv5104766,essv5115635,essv5051900,essv5137096,essv5160798,essv5038145,essv5005299,essv5097385,essv5079954,essv5040807,essv5024895,essv5068259,essv5103097,essv5081853,essv5096957,essv5029081,essv5091015,essv5108173,essv5140353,essv5039440,essv5044833,essv5094486,essv5027564,essv5088119,essv5145563,essv5044264,essv5154705,essv5061385,essv5144514,essv5131196,essv5055826,essv5040109,essv5101705,essv5076915,essv5107339,essv5118517,essv5127571,essv5151984,essv5033524,essv5118379,essv5062474,essv5083979,essv5052370,essv5037705,essv5117637,essv5083622,essv5110409,essv5145309,essv5065470,essv5089859,essv5115972,essv5066954,essv5023073,essv5033433,essv5090745,essv5019484,essv5070460,essv5024381,essv5152725,essv5060013,essv5062946,essv5097432,essv5148250,essv5107411,essv5059311,essv5128748,essv5012477,essv5002928,essv5091584,essv5066311,essv5036521,essv5027576,essv5113149,essv5111108,essv5039247,essv5081763,essv5147132,essv5028960,essv5129855,essv5118073,essv5010765,essv5064853,essv5069234,essv5160198,essv5048381,essv5087613,essv5095224,essv5004918,essv5088755,essv5072193,essv5091486,essv5003781,essv5127892,essv5138293,essv5013480,essv5092562,essv5068303,essv5055842,essv5035332,essv5046480,essv5100587,essv5105099,essv5015536,essv5130297,essv5032057,essv5110595,essv5042111,essv5119605,essv5050459,essv5100463,essv5073165,essv5140236,essv5038921,essv5021268,essv5007307,essv5154602,essv5074088,essv5102657,essv5140910,essv5152574,essv5103323,essv5077879,essv5023537,essv5094514,essv5109359,essv5035875,essv5081680,essv5019118,essv5045596,essv5078274,essv5091359,essv5140230,essv5067159,essv5007205,essv5050554,essv5057787,essv5054671,essv5052894,essv5121878,essv5158539,essv5119038,essv5041782,essv5038315,essv5041320,essv5079592,essv5058877,essv5045785,essv5121683,essv5100238,essv5077260,essv5022575,essv5152027,essv5088513,essv5155895,essv5097923,essv5093581,essv5129648,essv5082299,essv5038737,essv5155160,essv5117283,essv5027596,essv5062712,essv5060682,essv5102080,essv5003798,essv5032130,essv5114043,essv5115309,essv5021156,essv5042494,essv5032542,essv5117680,essv5088017,essv5092452,essv5091526,essv5051608,essv5010162,essv5018694,essv5053765,essv5019384,essv5159306,essv5026525,essv5083073,essv5040840,essv5057203,essv5007856,essv5120104,essv5098238,essv5104491,essv5063496,essv5016216,essv5054778,essv5130602,essv5022074,essv5122322,essv5054553,essv5028974,essv5050977,essv5099466,essv5136888,essv5039269,essv5053032,essv5142006,essv5074371,essv5065292,essv5128968,essv5005285,essv5027217,essv5124758,essv5073927,essv5014752,essv5073948,essv5133645,essv5058748,essv5075882,essv5133379,essv5088543,essv5136394,essv5023512,essv5155547,essv5106954,essv5026179,essv5050135,essv5086002,essv5127426,essv5119460,essv5117886,essv5081302,essv5077292,essv5038867,essv5031638,essv5005261,essv5059220,essv5051247,essv5131660,essv5098252,essv5064438,essv5092116,essv5022351,essv5072561,essv5019370,essv5111295,essv5006667,essv5100342,essv5086119,essv5065239,essv5102649,essv5076756,essv5062595,essv5025956,essv5017214,essv5018508,essv5097178,essv5112338,essv5100631,essv5019413,essv5024237,essv5087631,essv5159131,essv5123405,essv5098777,essv5051796,essv5017839,essv5057397,essv5135033,essv5065294,essv5034972,essv5073000,essv5120267,essv5011258,essv5140621,essv5004604,essv5064534,essv5155450,essv5151547,essv5029974,essv5153103,essv5030149,essv5115101,essv5143881,essv5139856,essv5131156,essv5016071,essv5059510,essv5116490,essv5014644,essv5024485,essv5160772,essv5017624,essv5013892,essv5026808,essv5145394,essv5025375,essv5132211,essv5047503,essv5082587,essv5047778,essv5030624,essv5015845,essv5081369,essv5037457,essv5105498,essv5070897,essv5151069,essv5139216,essv5062129,essv5086144,essv5009765,essv5083094,essv5033183,essv5150890,essv5150188,essv5090936,essv5041773,essv5097285,essv5141716,essv5073936,essv5129622,essv5085445,essv5048618,essv5020685,essv5016430,essv5096579,essv5055920,essv5031514,essv5108721,essv5144466,essv5127547,essv5133367,essv5131054,essv5011952,essv5089545,essv5126666,essv5155843,essv5092548,essv5026330,essv5084918,essv5013042,essv5043867,essv5094282,essv5155190,essv5057760,essv5043264,essv5094613,essv5084125,essv5047397,essv5045661,essv5065544,essv5096099,essv5013877,essv5069699,essv5037544,essv5157736,essv5097135,essv5062065,essv5052902,essv5156116,essv5113310,essv5047823,essv5086251,essv5051212,essv5046239,essv5153743,essv5004246,essv5138017,essv5068642,essv5041132,essv5001990,essv5012625,essv5047808,essv5058236,essv5151296,essv5108574,essv5081644,essv5041024,essv5158189,essv5153253,essv5121592,essv5020735,essv5102890,essv5057154,essv5152338,essv5107223,essv5048864,essv5129680,essv5038575,essv5102292,essv5050088,essv5146698,essv5122929,essv5136004,essv5063684,essv5114667,essv5138880,essv5050013,essv5150199,essv5148647,essv5062496,essv5070239,essv5131286,essv5082054,essv5140212,essv5097496,essv5079561,essv5097786,essv5124130,essv5101958,essv5079966,essv5090272,essv5141594,essv5032607,essv5146151,essv5066576,essv5037467,essv5112800,essv5136373,essv5148257,essv5117673,essv5035183,essv5002894,essv5081117,essv5132183,essv5022296,essv5141990,essv5075094,essv5039414,essv5083851,essv5087779,essv5143154,essv5035401,essv5086279,essv5124329,essv5152991,essv5123928,essv5054197,essv5086243,essv5084026,essv5157848,essv5112722,essv5040885,essv5153029,essv5065346,essv5084946,essv5040962,essv5120135,essv5012143,essv5153513,essv5016671,essv5018214,essv5133064,essv5119851,essv5128287,essv5033899,essv5093688,essv5021985,essv5033492,essv5120179,essv5110947,essv5091805,essv5030293,essv5003754,essv5133885,essv5159429,essv5070048,essv5029476,essv5054892,essv5109747,essv5089223,essv5138811,essv5061387,essv5115072,essv5082450,essv5007611,essv5040987,essv5118319,essv5017008,essv5127319,essv5146263,essv5011092,essv5009370,essv5008273,essv5097605,essv5128182,essv5021474,essv5065924,essv5146908,essv5027799,essv5035876,essv5013106,essv5053951,essv5053430,essv5120016,essv5052660,essv5051895,essv5143660,essv5081004,essv5017926,essv5024124,essv5036055,essv5080285,essv5034202,essv5153493,essv5119364,essv5129106,essv5109671,essv5005309,essv5106551,essv5144516,essv5067209,essv5009520,essv5024553,essv5130879,essv5120209,essv5040169,essv5076056,essv5025313,essv5080602,essv5137994,essv5149844,essv5013180,essv5031403,essv5137569,essv5118182,essv5065702,essv5031749,essv5083737,essv5030679,essv5096374,essv5044400,essv5120665,essv5016650,essv5044862,essv5133760,essv5086795,essv5154350,essv5080167,essv5083708,essv5098613,essv5023895,essv5131988,essv5060166,essv5156970,essv5116958,essv5104737,essv5004473,essv5131813,essv5113913,essv5076246,essv5097558,essv5050902,essv5062219,essv5027566,essv5141961,essv5045955,essv5005263,essv5059957,essv5067129,essv5006074,essv5144460,essv5004757,essv5084325,essv5055176,essv5089218,essv5019316,essv5089438,essv5023882,essv5130055,essv5091404,essv5114418,essv5007911,essv5014253,essv5049744,essv5079604,essv5125573,essv5012662,essv5026723,essv5021256,essv5104497,essv5030238,essv5063271,essv5127726,essv5062364,essv5011419,essv5159224,essv5112107,essv5047899,essv5101038,essv5105300,essv5005290,essv5076517,essv5156046,essv5045204,essv5106244,essv5051192,essv5081520,essv5007297,essv5042386,essv5010209,essv5030107,essv5062484,essv5093737 M 1184 7 807 ACOT1,HEATR4 NA06984,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07056,NA07345,NA07348,NA07357,NA07435,NA10830,NA10835,NA10836,NA10837,NA10839,NA10840,NA10843,NA10845,NA10847,NA10850,NA10852,NA10853,NA10854,NA10856,NA10859,NA10861,NA10863,NA10864,NA11829,NA11830,NA11831,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11894,NA11919,NA11920,NA11930,NA11993,NA11994,NA11995,NA12006,NA12045,NA12056,NA12057,NA12144,NA12146,NA12154,NA12155,NA12234,NA12239,NA12248,NA12249,NA12273,NA12275,NA12282,NA12283,NA12286,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12413,NA12489,NA12546,NA12707,NA12716,NA12718,NA12739,NA12740,NA12749,NA12750,NA12751,NA12753,NA12760,NA12761,NA12763,NA12767,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12827,NA12830,NA12842,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18487,NA18488,NA18498,NA18499,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18518,NA18520,NA18524,NA18526,NA18529,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18862,NA18863,NA18869,NA18871,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18913,NA18917,NA18925,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19031,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19095,NA19097,NA19099,NA19102,NA19114,NA19116,NA19118,NA19119,NA19120,NA19122,NA19130,NA19131,NA19132,NA19137,NA19140,NA19142,NA19143,NA19147,NA19148,NA19152,NA19153,NA19154,NA19159,NA19161,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19190,NA19191,NA19193,NA19198,NA19199,NA19203,NA19204,NA19207,NA19213,NA19214,NA19222,NA19226,NA19235,NA19236,NA19238,NA19239,NA19240,NA19247,NA19248,NA19307,NA19308,NA19310,NA19314,NA19315,NA19317,NA19319,NA19327,NA19328,NA19332,NA19359,NA19360,NA19371,NA19372,NA19375,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19431,NA19436,NA19440,NA19445,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19466,NA19467,NA19471,NA19649,NA19650,NA19651,NA19652,NA19654,NA19656,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19676,NA19677,NA19681,NA19682,NA19683,NA19684,NA19686,NA19700,NA19701,NA19702,NA19711,NA19712,NA19713,NA19714,NA19718,NA19721,NA19722,NA19723,NA19724,NA19746,NA19748,NA19750,NA19751,NA19756,NA19759,NA19761,NA19762,NA19763,NA19771,NA19772,NA19773,NA19774,NA19776,NA19778,NA19780,NA19781,NA19782,NA19784,NA19788,NA19789,NA19790,NA19796,NA19834,NA19836,NA19901,NA19902,NA19904,NA19917,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20129,NA20276,NA20284,NA20287,NA20288,NA20302,NA20317,NA20319,NA20332,NA20334,NA20335,NA20336,NA20337,NA20340,NA20343,NA20344,NA20345,NA20349,NA20350,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20505,NA20506,NA20508,NA20509,NA20512,NA20515,NA20517,NA20518,NA20519,NA20522,NA20524,NA20527,NA20528,NA20529,NA20531,NA20534,NA20538,NA20541,NA20543,NA20544,NA20581,NA20586,NA20588,NA20753,NA20754,NA20755,NA20756,NA20757,NA20759,NA20760,NA20761,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20805,NA20807,NA20810,NA20811,NA20812,NA20813,NA20816,NA20819,NA20826,NA20846,NA20849,NA20850,NA20851,NA20853,NA20854,NA20859,NA20861,NA20862,NA20866,NA20870,NA20871,NA20874,NA20881,NA20884,NA20885,NA20888,NA20889,NA20894,NA20897,NA20898,NA20900,NA20903,NA20904,NA20907,NA20909,NA20910,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21098,NA21100,NA21101,NA21102,NA21103,NA21106,NA21109,NA21111,NA21115,NA21116,NA21117,NA21119,NA21123,NA21143,NA21144,NA21295,NA21301,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21320,NA21336,NA21339,NA21355,NA21356,NA21359,NA21360,NA21361,NA21364,NA21365,NA21367,NA21368,NA21371,NA21378,NA21385,NA21386,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21415,NA21417,NA21418,NA21420,NA21421,NA21424,NA21425,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21519,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21573,NA21574,NA21575,NA21576,NA21577,NA21582,NA21583,NA21596,NA21599,NA21600,NA21601,NA21611,NA21617,NA21619,NA21620,NA21647,NA21648,NA21683,NA21685,NA21686,NA21693,NA21716,NA21717,NA21718,NA21723,NA21733,NA21739,NA21741,NA21768,NA21776,NA21825,NA21826 nsv902088 14 73068729 73115537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505008,nssv1506444 M 6533 2 0 ACOT1,ACOT2,HEATR4 SP52951,SP54350 nsv442687 14 73070876 73090732 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ACOT1,HEATR4 dgv374n67 14 73071204 73072960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826980,nsv826977 M 31 0 2 HEATR4 AK4,NA18997 nsv826978 14 73071204 73075603 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429552 S 31 0 1 ACOT1,HEATR4 NA18968 nsv826979 14 73071204 73083170 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439265,nssv1435885,nssv1436162,nssv1438437,nssv1435400,nssv1429392,nssv1429939,nssv1441475,nssv1433972,nssv1431622,nssv1437011,nssv1440644,nssv1422932 M 31 0 13 ACOT1,HEATR4 AK12,AK18,NA18526,NA18542,NA18552,NA18564,NA18566,NA18592,NA18942,NA18947,NA18951,NA18969,NA18973 esv990289 14 73071204 73092312 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586899 S 3 0 1 ACOT1,HEATR4 HuRef esv29945 14 73071404 73114182 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84184 S 3 0 1 ACOT1,ACOT2,HEATR4 WATSON esv33155 14 73071433 73128092 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101482,essv98760,essv97513,essv101246,essv100693,essv100884,essv96791,essv100942,essv95215,essv98206,essv94138,essv101373,essv96974,essv97817,essv95633,essv93152,essv93131,essv97406,essv101785,essv95893,essv99096,essv92995,essv92671,essv92727,essv93710,essv96174,essv96673,essv95968,essv93540,essv93254,essv99607,essv95000,essv92580,essv98092,essv96512,essv99152,essv99279,essv97769,essv100127,essv100606,essv99522,essv98521,essv96406,essv96321,essv94297 M 51 3 38 ACOT1,ACOT2,HEATR4 21603,21606,21616,21618,21656,21659,21693,21721,21772,21802,21805,21817,21837,21841,21863,21879,21909,21911,21938,21939,21944,21972,22007,22011,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22335,22352,22371,22394 nsv826981 14 73072257 73072960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423739,nssv1437748,nssv1427040,nssv1430139,nssv1430901,nssv1434701,nssv1427825 M 31 0 7 HEATR4 AK14,AK16,AK6,AK8,NA18570,NA18949,NA18999 nsv514747 14 73072456 73072816 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628213 S 1414 0 0 HEATR4 nsv482172 14 73073681 73080251 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558533 S 1 1 0 ACOT1,HEATR4 KB1 dgv375n67 14 73074362 73083170 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826984,nsv826982,nsv826983 M 31 0 8 ACOT1,HEATR4 AK14,AK16,AK6,AK8,NA18570,NA18949,NA18997,NA18999 nsv436178 14 73076130 73109625 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466766 S 2 0 1 Samples from several populations that are part of the HapMap project. ACOT1,ACOT2,HEATR4 NA18505 nsv514748 14 73078040 73078216 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627139 S 1414 0 0 ACOT1,HEATR4 nsv514749 14 73079816 73082320 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627140 S 1414 0 0 ACOT1,HEATR4 nsv826985 14 73082050 73115259 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433170 S 31 0 1 ACOT2,HEATR4 NA18972 esv30006 14 73091818 73114328 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84245 S 2 1 0 ACOT2,HEATR4 HuRef nsv826987 14 73091999 73110215 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435896 S 31 0 1 ACOT2,HEATR4 NA18592 nsv514750 14 73092984 73093960 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628215 S 1414 0 0 HEATR4 nsv819954 14 73096748 73107553 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418598 S 2 1 0 ACOT2 AK1 nsv826988 14 73101127 73115259 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426116 S 31 0 1 ACOT2 AK4 nsv442346 14 73101243 73120017 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ACOT2 nsv514751 14 73109824 73110112 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627141 S 1414 0 0 ACOT2 nsv902089 14 73156988 73233378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599428 S 6533 0 1 DNAL1 IS41634 dgv1959n71 14 73171266 73261918 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902090,nsv902092 M 6533 0 2 C14orf43,DNAL1,PNMA1 IS34407,IS40067 nsv902091 14 73175678 73251369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576010 S 6533 1 0 DNAL1,PNMA1 IS33857 nsv902093 14 73248553 73261918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510073 S 6533 0 1 C14orf43,PNMA1 SP54956 esv270822 14 73256262 73256602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514688,essv2516551,essv2517990,essv2517772,essv2517313,essv2519113 M 157 6 0 Samples from several populations that are part of the HapMap project. C14orf43 NA11840,NA12814,NA12872,NA12878,NA18970,NA19141 esv273863 14 73256262 73256602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581384 S 7 1 0 Samples from several populations that are part of the HapMap project. C14orf43 NA12878 nsv85014 14 73256300 73256691 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103592 M 24 C14orf43 nsv1351 14 73303941 73333772 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4124 S 9 0 1 C14orf43 NA12878 dgv376n67 14 73309394 73316677 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826990,nsv826989 M 31 0 8 C14orf43 AK2,AK4,NA18542,NA18564,NA18947,NA18972,NA18973,NA18999 esv22785 14 73309902 73315434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16668 S 451 0 1 C14orf43 NA12878 nsv517455 14 73311441 73312722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682781,nssv693993,nssv652065,nssv693460,nssv664893,nssv691767,nssv653155,nssv670909,nssv673175,nssv681403,nssv666279,nssv676776,nssv677259,nssv690530,nssv672466,nssv662621,nssv667246,nssv652957,nssv654356 M 2026 0 19 C14orf43 esv2421842 14 73311441 73315360 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156143,essv5005546,essv5041260,essv5042107,essv5068555,essv5144995,essv5153370,essv5027748,essv5060478,essv5151360,essv5147774,essv5039683,essv5030500,essv5066714,essv5011393,essv5095225,essv5111309,essv5118972,essv5084754,essv5033036,essv5070286,essv5008276,essv5107749,essv5066081,essv5152300,essv5133889,essv5034276,essv5023439,essv5063497,essv5158062,essv5147487,essv5067008,essv5043172,essv5148879,essv5076301,essv5003422 M 1184 0 36 C14orf43 NA10836,NA12874,NA12878,NA12891,NA17974,NA17990,NA17993,NA18105,NA18155,NA18159,NA18536,NA18542,NA18548,NA18561,NA18564,NA18572,NA18749,NA18946,NA18947,NA18963,NA18971,NA18972,NA18973,NA18993,NA18999,NA19007,NA19059,NA19072,NA19076,NA19468,NA20772,NA20856,NA20866,NA20877,NA20899,NA21103 nsv826991 14 73313029 73314250 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439267 S 31 0 1 C14orf43 NA18973 nsv826992 14 73439608 73440048 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428638 S 31 0 1 ZNF410 AK10 nsv826993 14 73439608 73440302 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427043 S 31 0 1 ZNF410 AK6 esv274934 14 73469369 73475784 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586066,essv2585330 M 1250 1 1 FAM161B nsv1352 14 73487776 73532481 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9216 S 9 0 1 COQ6,ENTPD5 NA12156 nsv456339 14 73490193 73553201 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533679 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COQ6,ENTPD5 HGDP00286 nsv524396 14 73494691 73559488 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700314 S 2026 1 0 C14orf45,COQ6,ENTPD5 esv1198173 14 73525789 73525925 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589820 S 2 0 1 ENTPD5 HuRef dgv642e1 14 73620134 73676171 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1012,essv8542 M 271 0 0 ALDH6A1,LIN52 NA18503 esv22046 14 73620674 73622789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20660 S 451 0 1 ALDH6A1,LIN52 NA12239 esv2614022 14 73622775 73624232 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236399 S 1 0 1 LIN52 NA18507 dgv1960n71 14 73625022 73741009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902094,nsv902095 M 6533 0 3 LIN52 IS31563,IS31617,IS40368 nsv9154 14 73639291 73667656 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23852 S 31 1 0 Samples from several populations that are part of the HapMap project. LIN52 NA18504 esv21637 14 73641899 73667683 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10524 S 451 1 0 LIN52 NA18907 nsv902096 14 73681024 73929967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557704 S 6533 1 0 ABCD4,LIN52,VRTN,VSX2 MS22809 nsv902097 14 73706626 73823116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535152 S 6533 1 0 ABCD4,LIN52,VSX2 MS12041 nsv520879 14 73720251 73721194 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697666 S 2026 0 1 LIN52 esv2616082 14 73736312 73737202 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381351 S 1 1 0 LIN52 NA18507 esv1167280 14 73736711 73736711 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355060 S 2 1 0 LIN52 HuRef nsv902098 14 73743516 73760736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543648 S 6533 0 1 "" MS16153 esv269970 14 73795853 73796145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510607,essv2503046,essv2505838,essv2513459,essv2498860,essv2499633 M 157 6 0 Samples from several populations that are part of the HapMap project. VSX2 NA18501,NA18507,NA18861,NA18907,NA19138,NA19225 nsv1353 14 73902810 73936764 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9217 S 9 1 0 "" NA12156 nsv832829 14 73914253 74081556 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451047 S 95 0 1 ISCA2,LTBP2,MIR4709,NPC2,SYNDIG1L esv33960 14 73945269 73946267 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93243 S 51 1 0 SYNDIG1L 22170 esv28485 14 73995126 73996809 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15828 S 451 0 1 "" NA18517 esv2515430 14 73998173 73998586 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341166 S 1 1 0 "" NA18507 nsv902099 14 74002529 74110091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546848 S 6533 0 1 ISCA2,LTBP2,MIR4709,NPC2 MS17208 esv273331 14 74011876 74012205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581874,essv2583255,essv2584211,essv2584669,essv2583487 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv269707 14 74011877 74012206 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540872,essv2542289,essv2522836,essv2543861,essv2545307,essv2550427,essv2535338,essv2547211,essv2558318,essv2578004,essv2565315,essv2564238,essv2561776,essv2537195,essv2546661,essv2530455,essv2557426,essv2552565,essv2551792,essv2532267,essv2569225,essv2549987,essv2536850,essv2527374,essv2561378,essv2523937,essv2541407,essv2564837,essv2534683,essv2539643,essv2549452,essv2519912,essv2531181,essv2532799,essv2570170,essv2572489,essv2559034,essv2566880,essv2542025,essv2562407,essv2533897,essv2533743,essv2555666,essv2555932,essv2572020,essv2529647,essv2575512,essv2575345,essv2526703,essv2560923,essv2574672,essv2568791,essv2545158,essv2560277,essv2548145,essv2571141,essv2545871,essv2574356,essv2551240,essv2537751,essv2533277 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA11831,NA11919,NA11931,NA11992,NA12003,NA12234,NA12249,NA12717,NA12750,NA12761,NA12812,NA12828,NA12874,NA12878,NA12892,NA18486,NA18499,NA18502,NA18504,NA18505,NA18508,NA18511,NA18517,NA18522,NA18523,NA18537,NA18545,NA18558,NA18561,NA18563,NA18564,NA18566,NA18573,NA18576,NA18593,NA18609,NA18638,NA18853,NA18856,NA18909,NA18916,NA18944,NA18945,NA18956,NA18973,NA19093,NA19099,NA19102,NA19114,NA19137,NA19138,NA19147,NA19172,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 nsv826994 14 74037833 74038351 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430142 S 31 1 0 LTBP2 AK14 nsv832830 14 74038857 74097931 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451048 S 95 0 1 LTBP2 esv25787 14 74047076 74053283 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13066 S 451 1 0 LTBP2 NA12239 nsv832831 14 74082799 74277120 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451051,nssv1451049 M 95 0 2 FCF1,KIAA0317,LTBP2 nsv456340 14 74178948 74181099 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533680 S 1557 0 1 "" NINDS_23 nsv520517 14 74178948 74181099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671982,nssv685904 M 2026 0 2 "" nsv832832 14 74243194 74421029 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451053,nssv1451055,nssv1451052,nssv1451054 M 95 2 2 DLST,FCF1,KIAA0317,PROX2,YLPM1 esv1004666 14 74299944 74300704 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587252 S 3 0 1 YLPM1 HuRef nsv826995 14 74334778 74335950 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423744 S 31 0 1 YLPM1 NA18999 nsv826996 14 74335290 74335950 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425315 S 31 0 1 YLPM1 AK2 nsv1355 14 74371027 74417163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6601 S 9 0 1 PROX2,YLPM1 NA12156 esv1124073 14 74531456 74531936 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711149 S 2 0 1 "" HuRef esv2489629 14 74568727 74569925 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197626 S 1 1 0 MLH3 NA18507 esv267486 14 74569302 74569634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540954,essv2546547,essv2521272,essv2525964,essv2542364,essv2523022,essv2544047,essv2571025,essv2556590,essv2568362,essv2545423,essv2523168,essv2531741,essv2577262,essv2570422,essv2521529,essv2576641,essv2553932,essv2544345,essv2552319,essv2520441,essv2547605,essv2529259,essv2558521,essv2577672,essv2553894,essv2559464,essv2565415,essv2576251,essv2520224,essv2564199,essv2554833,essv2530798,essv2537297,essv2528590,essv2547017,essv2530478,essv2520933,essv2557553,essv2557194,essv2552646,essv2551899,essv2569347,essv2578795,essv2538942,essv2563021,essv2523925,essv2552826,essv2541302,essv2538426,essv2542791,essv2540432,essv2524738,essv2564930,essv2534611,essv2561286,essv2539789,essv2549324,essv2519639,essv2560040,essv2522190,essv2566120,essv2532913,essv2567775,essv2528802,essv2567290,essv2541683,essv2569890,essv2563830,essv2553112,essv2535551,essv2572224,essv2559170,essv2542040,essv2556395,essv2539403,essv2578221,essv2573119,essv2555229,essv2533663,essv2555509,essv2566608,essv2529851,essv2573945,essv2527482,essv2556056,essv2531480,essv2573633,essv2571861,essv2525765,essv2526779,essv2529465,essv2526611,essv2524018,essv2572902,essv2568441,essv2560291,essv2549866,essv2571119,essv2546066,essv2574372,essv2538084,essv2533371,essv2554345,essv2547953,essv2563508,essv2557906 M 157 107 0 Samples from several populations that are part of the HapMap project. MLH3 NA07000,NA07051,NA07346,NA07347,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18519,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18871,NA18912,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18973,NA18980,NA19005,NA19093,NA19114,NA19129,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240 esv272165 14 74569302 74569634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582133,essv2582762,essv2583015,essv2584071,essv2584827,essv2583750 M 7 6 0 Samples from several populations that are part of the HapMap project. MLH3 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1578153 14 74569334 74569334 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117624 S 2 1 0 MLH3 HuRef nsv510644 14 74582336 74596694 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617416 S 4 0 1 ACYP1,MLH3 CHM esv29535 14 74590712 74595201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15958 S 451 0 2 ACYP1 NA12776,NA19108 nsv832833 14 74637421 74841316 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451056 S 95 1 0 FOS,LOC731223,NEK9,TMED10 nsv85320 14 74690709 74690857 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103898 M 24 TMED10 nsv515597 14 74741204 74749398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689749,nssv651887 M 2026 0 2 "" nsv1356 14 74747770 74775717 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2081 S 9 1 0 "" NA18555 esv27129 14 74854409 74855709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20318 S 451 0 3 "" NA18907,NA18916,NA19114 nsv523719 14 74896212 74900874 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699533 S 2026 0 1 "" nsv519397 14 74911690 74925551 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696832 S 2026 0 1 "" esv22667 14 74964167 74965042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11900 S 451 0 1 JDP2 NA12004 nsv1357 14 75033564 75045905 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9218 S 9 0 1 "" NA12156 nsv456342 14 75089508 75115115 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533682 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLVCR2 HGDP01169 nsv524538 14 75212748 75217260 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700488 S 2026 1 0 TTLL5 nsv902100 14 75228669 75426000 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564153 S 6533 0 1 BCYRN1,TTLL5 IS30171 nsv1358 14 75297498 75303833 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2923 S 9 1 0 TTLL5 NA18555 nsv1359 14 75334612 75377217 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9219 S 9 0 1 TTLL5 NA12156 nsv518383 14 75351914 75385818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695814 S 2026 0 1 TTLL5 nsv438263 14 75417994 75430186 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470628,nssv470632,nssv470631 M 269 0 3 Samples from several populations that are part of the HapMap project. BCYRN1,TTLL5 NA18502,NA19153,NA19160 esv2491325 14 75459303 75462747 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358289 S 1 0 1 BCYRN1,TTLL5 NA18507 esv2386292 14 75460075 75462437 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804854 S 1 0 1 BCYRN1,TTLL5 NA18507 nsv902101 14 75475877 75632003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533647 S 6533 0 1 BCYRN1,IFT43,TGFB3,TTLL5 MS11249 nsv1360 14 75516151 75561209 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9220 S 9 0 1 BCYRN1,IFT43,TGFB3 NA12156 nsv7256 14 75534288 75547088 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1211 S 9 0 0 BCYRN1,IFT43 NA19240 esv2010419 14 75629771 75630195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908409 S 1 0 1 BCYRN1 NA18507 nsv507761 14 75678632 75684632 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620571 S 4 1 0 "" NA15510 nsv516141 14 75739789 75741704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666449,nssv683103 M 2026 0 2 "" esv1034781 14 75768102 75768102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239020 S 2 1 0 "" HuRef nsv85598 14 75768108 75768108 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104176 M 24 "" esv1433369 14 75869132 75869132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649345 S 2 1 0 "" HuRef esv1561967 14 75869280 75869280 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895494 S 2 1 0 "" HuRef esv1412059 14 75869541 75869541 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971504 S 2 1 0 "" HuRef esv2485837 14 75883119 75884800 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271756 S 1 0 1 "" NA18507 esv2162963 14 75883331 75884147 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602348 S 1 0 1 "" NA18507 esv3295 14 75883482 75884071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25736 S 1 0 1 Single Asian sample YH "" YH esv7055 14 75883530 75883955 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29496 S 1 0 1 "" SJK esv32586 14 75998051 75999150 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101203,essv97080 M 51 0 2 ESRRB 21618,22075 nsv507762 14 76022876 76028876 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617890 S 4 1 0 ESRRB CHM nsv902102 14 76026368 76088319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521609 S 6533 1 0 ESRRB SP52456 dgv377n67 14 76067359 76068966 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv826998,nsv826999 M 31 0 2 "" NA18969,NA18972 esv33546 14 76067916 76068640 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96934,essv93246 M 51 0 2 "" 21817,22170 esv33972 14 76099850 76100682 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93178 S 51 1 0 "" 22170 nsv524635 14 76121984 76127554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700600 S 2026 0 1 "" nsv518067 14 76155660 76178123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695478 S 2026 0 1 "" esv2609549 14 76185471 76186508 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248576 S 1 1 0 "" NA18507 esv273045 14 76185952 76186315 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579009,essv2579729 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271599 14 76185961 76186306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517083,essv2516504,essv2514207,essv2517795,essv2516226,essv2516825,essv2517237,essv2519136 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12814,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141 esv2303488 14 76263272 76263715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515514 S 1 0 1 "" NA18507 esv1607219 14 76263492 76263550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275514 S 2 0 1 "" HuRef nsv517919 14 76361705 76366892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694180 S 2026 0 1 C14orf166B esv267884 14 76364746 76365112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502291,essv2499410,essv2495874 M 157 3 0 Samples from several populations that are part of the HapMap project. C14orf166B NA12004,NA12044,NA12489 nsv522389 14 76375261 76376286 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695169 S 2026 1 0 C14orf166B nsv509540 14 76444262 76560457 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619652,nssv619651 M 4 1 0 "" NA10860 nsv85339 14 76446453 76447358 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103917 M 24 "" nsv827000 14 76513429 76514588 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435401 S 31 0 1 "" NA18942 nsv902103 14 76553963 76609792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546849 S 6533 0 1 IRF2BPL MS17208 nsv510384 14 76557457 76563457 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621415 S 4 0 1 IRF2BPL NA15510 nsv832834 14 76624740 76794110 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451059,nssv1451057,nssv1451058 M 95 1 2 KIAA1737,TMEM63C,ZDHHC22 esv2237407 14 76771411 76771829 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692185 S 1 0 1 TMEM63C NA18507 esv1001977 14 76771600 76771775 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567978 S 3 0 1 TMEM63C HuRef esv1173459 14 76771605 76771911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232800 S 2 0 1 TMEM63C HuRef esv1308109 14 76771963 76772299 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803484 S 2 0 1 TMEM63C HuRef nsv1361 14 76777170 76822777 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6603 S 9 0 1 MIR1260,NGB,POMT2,TMEM63C NA12156 nsv902104 14 76790494 76826074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530784 S 6533 0 1 MIR1260,NGB,POMT2,TMEM63C MS10311 esv1739588 14 76805786 76805859 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670605 S 2 0 1 NGB HuRef dgv1961n71 14 76834637 76871184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902106,nsv902105 M 6533 0 3 GSTZ1,POMT2 IS35675,MS19721,MS22122 nsv902107 14 76860169 76941530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560861 S 6533 0 1 C14orf148,GSTZ1,SAMD15,TMED8 MS24736 nsv1362 14 76922955 76968358 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6604 S 9 0 1 C14orf148,SAMD15,VIPAR NA12156 nsv85801 14 76945009 76945909 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104379 M 24 C14orf148 nsv832835 14 76976459 77164960 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451060 S 95 1 0 AHSA1,ISM2,SPTLC2,VIPAR esv269366 14 76996527 76996612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518699,essv2514803,essv2515503,essv2518444,essv2514985,essv2516515,essv2515530,essv2515968,essv2513926,essv2518321 M 157 10 0 Samples from several populations that are part of the HapMap project. AHSA1 NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12873,NA19143,NA19240 esv273322 14 76996527 76996612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581066 S 7 1 0 Samples from several populations that are part of the HapMap project. AHSA1 NA19240 nsv85432 14 77065739 77071029 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104010 M 24 SPTLC2 esv274095 14 77074981 77077276 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581100 S 7 1 0 Samples from several populations that are part of the HapMap project. SPTLC2 NA19240 esv7096 14 77082826 77084117 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29537 S 1 0 0 SPTLC2 SJK esv267469 14 77113242 77113327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516771,essv2519229,essv2517380 M 157 3 0 Samples from several populations that are part of the HapMap project. SPTLC2 NA11881,NA11894,NA11918 dgv643e1 14 77143933 77332325 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv517,essv15424 M 271 0 0 ALKBH1,C14orf178,SLIRP,SNW1,SPTLC2 NA19203 essv7944 14 77174650 77282215 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ALKBH1,SLIRP,SNW1 NA19203 esv34940 14 77174650 77292551 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990490,essv6986006,essv6980501 M 771 1 0 ALKBH1,SLIRP,SNW1 NA19203 nsv521287 14 77177756 77280978 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697889 S 2026 1 0 ALKBH1,SLIRP,SNW1 nsv9155 14 77187915 77203583 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26777,nssv21664,nssv25303,nssv22079,nssv19691,nssv24819,nssv22067,nssv24787 M 31 8 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12872,NA18517,NA18563,NA18860,NA18972,NA19173,NA19221 esv32836 14 77189250 77194711 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94936 S 51 0 1 "" 22231 nsv84333 14 77190824 77190957 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102911 M 24 "" nsv84471 14 77194709 77194815 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103049 M 24 "" nsv9156 14 77207894 77210467 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21558 S 31 0 1 Samples from several populations that are part of the HapMap project. ALKBH1 NA18564 nsv520021 14 77222674 77278047 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697181 S 2026 1 0 ALKBH1,SLIRP,SNW1 nsv519957 14 77278047 77280978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671807,nssv659684 M 2026 0 2 SNW1 esv1469738 14 77278939 77278939 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724795 S 2 1 0 SNW1 HuRef esv2527141 14 77318841 77320727 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207612 S 1 0 1 "" NA18507 esv993003 14 77319189 77319976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564559 S 3 0 1 "" HuRef esv2407838 14 77319424 77320154 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739080 S 1 0 1 "" NA18507 esv1565660 14 77319622 77319960 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092656 S 2 0 1 "" HuRef nsv85459 14 77319660 77319997 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104037 M 24 "" nsv1363 14 77363836 77398259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4125 S 9 1 0 ADCK1 NA12878 esv24205 14 77365045 77366770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13075 S 451 0 2 ADCK1 NA12044,NA12828 nsv827001 14 77365670 77366883 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438438,nssv1429964 M 31 0 2 ADCK1 NA18947,NA18951 esv34345 14 77440208 77566340 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978277,essv6978278,essv6978276,essv6978279,essv6987363 M 771 0 1 ADCK1 NA18995 dgv644e1 14 77448909 77571772 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2375,esv1259 M 271 0 0 ADCK1 NA18995 nsv456345 14 77450143 77468644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533683 S 1557 0 1 ADCK1 1780854101_A nsv515961 14 77460633 77461761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666390,nssv655540,nssv665476 M 2026 0 3 ADCK1 nsv902108 14 77528800 77610768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598468 S 6533 0 1 "" IS40902 esv2293793 14 77618876 77619299 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841820 S 1 0 1 "" NA18507 nsv519209 14 77627518 77627677 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696698 S 2026 1 0 "" nsv1364 14 77653063 77683192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5513 S 9 1 0 "" NA19129 esv1581557 14 77663746 77663746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141554 S 2 1 0 "" HuRef nsv902109 14 77673630 77703927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588023 S 6533 1 0 "" IS38145 nsv520241 14 77692887 77703927 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694371 S 2026 1 0 "" nsv1366 14 77702797 77747471 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9221 S 9 0 1 "" NA12156 nsv514752 14 77708256 77710000 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627143 S 1414 0 0 "" esv26267 14 77784259 77784990 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12348 S 451 0 1 "" NA18523 nsv832837 14 77836558 78016279 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451062 S 95 1 0 NRXN3 nsv516814 14 77855912 77861378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671120,nssv676417,nssv701527 M 2026 0 3 "" nsv442347 14 77856088 77861755 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422026 14 77856092 77861378 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152410,essv5115913,essv5122385,essv5078446,essv5143664,essv5122826,essv5061161,essv5083464,essv5147148,essv5156387,essv5112972,essv5107481,essv5071203,essv5094204,essv5095349,essv5106963,essv5029294,essv5021259,essv5026065,essv5108604,essv5012095,essv5140060,essv5148750,essv5105862,essv5070198 M 1184 0 25 "" NA19038,NA19209,NA19210,NA19374,NA19448,NA19467,NA19904,NA21302,NA21303,NA21308,NA21339,NA21352,NA21365,NA21366,NA21405,NA21414,NA21439,NA21447,NA21451,NA21457,NA21529,NA21583,NA21682,NA21683,NA21719 esv2440961 14 77897405 77899071 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300359 S 1 0 1 "" NA18507 esv2080567 14 77897809 77898544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615836 S 1 0 1 "" NA18507 esv3189 14 77897913 77898436 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25630 S 1 0 1 Single Asian sample YH "" YH esv989776 14 77897953 77898742 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563864 S 3 0 1 "" HuRef esv5980 14 77897990 77898332 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28421 S 1 0 1 "" SJK esv992543 14 77897995 77898345 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569634 S 3 0 1 "" HuRef esv1335344 14 77897998 77898349 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837812 S 2 0 1 "" HuRef essv8004 14 77945360 77982720 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NRXN3 NA19221 dgv645e1 14 77945360 78243281 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv723,essv17821 M 271 0 0 NRXN3 NA10831 esv25836 14 78039556 78040356 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11119 S 451 0 1 NRXN3 NA18916 esv270066 14 78052422 78052772 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518715,essv2518581,essv2515138,essv2514259,essv2517800,essv2516216,essv2516891 M 157 7 0 Samples from several populations that are part of the HapMap project. NRXN3 NA12045,NA12287,NA12812,NA12874,NA12878,NA12891,NA12892 esv274035 14 78052432 78052772 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582169,essv2582325,essv2582856 M 7 3 0 Samples from several populations that are part of the HapMap project. NRXN3 NA12878,NA12891,NA12892 nsv9157 14 78091569 78093901 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21273 S 31 1 0 Samples from several populations that are part of the HapMap project. NRXN3 NA07048 esv34435 14 78125151 78180904 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987781,essv6989172 M 771 0 1 NRXN3 NA10831 essv23163 14 78125151 78210289 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NRXN3 NA10831 nsv1367 14 78137274 78176140 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9222 S 9 0 1 NRXN3 NA12156 esv28584 14 78229273 78235380 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13449 S 451 0 1 NRXN3 NA11995 esv2421742 14 78230699 78235361 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5134127,essv5123467,essv5105802,essv5145738,essv5043357,essv5086255,essv5066504,essv5061239,essv5123690,essv5102439,essv5152988,essv5139600,essv5079330,essv5026957,essv5041083,essv5106561,essv5134260,essv5070114,essv5008992,essv5144743,essv5012080,essv5087536,essv5059361,essv5031181,essv5140795,essv5135990,essv5102951,essv5028024,essv5072445,essv5058525,essv5026954,essv5039546,essv5075229,essv5044206,essv5101620,essv5159535,essv5087786,essv5054566,essv5152914,essv5065176,essv5094852,essv5005048,essv5159095,essv5155122,essv5057431,essv5096013,essv5023112,essv5113568 M 1184 0 48 NRXN3 NA07022,NA10843,NA10861,NA11917,NA11920,NA11995,NA19028,NA19036,NA19309,NA19375,NA19448,NA20332,NA20333,NA20505,NA20588,NA20797,NA21300,NA21311,NA21312,NA21313,NA21314,NA21318,NA21339,NA21367,NA21370,NA21379,NA21385,NA21386,NA21390,NA21405,NA21414,NA21417,NA21436,NA21438,NA21439,NA21486,NA21487,NA21493,NA21494,NA21524,NA21525,NA21526,NA21527,NA21573,NA21576,NA21577,NA21613,NA21768 nsv442348 14 78230938 78235360 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NRXN3 nsv517018 14 78231375 78234970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690967,nssv656968,nssv661979,nssv663125,nssv673635,nssv693597,nssv653497,nssv670200,nssv678965,nssv691373,nssv679194,nssv694029,nssv658280,nssv656631,nssv655445,nssv673731,nssv688716,nssv679518,nssv691183,nssv669093,nssv690600 M 2026 0 21 NRXN3 nsv524797 14 78231375 78237634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700789 S 2026 0 1 NRXN3 nsv514753 14 78231480 78235080 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628216 S 1414 0 0 NRXN3 nsv819821 14 78277978 78278304 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418693 S 2 1 0 NRXN3 AK1 nsv1368 14 78278854 78286016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10025 S 9 1 0 NRXN3 NA18956 nsv832838 14 78376380 78515135 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451063 S 95 1 0 NRXN3 esv2546858 14 78378063 78379604 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286349 S 1 0 1 NRXN3 NA18507 esv6644 14 78392338 78392427 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29085 S 1 1 0 NRXN3 SJK esv28416 14 78624061 78624665 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12205 S 451 0 3 NRXN3 NA18909,NA19190,NA19240 nsv902110 14 78694245 79068047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587645 S 6533 0 1 NRXN3 IS38081 esv1996512 14 78723487 78723982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540605 S 1 0 1 NRXN3 NA18507 esv4655 14 78723658 78723851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27096 S 1 0 1 Single Asian sample YH NRXN3 YH dgv37n6 14 78723680 78723794 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv85529,nsv84453 M 24 NRXN3 esv990720 14 78723685 78723783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569391 S 3 0 1 NRXN3 HuRef esv1465114 14 78723695 78723794 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793586 S 2 0 1 NRXN3 HuRef nsv827002 14 78724651 78735475 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429977 S 31 0 1 NRXN3 NA18947 dgv646e1 14 78728484 78735438 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1121,essv612 M 271 0 0 NRXN3 NA18947 nsv526245 14 78749913 78782005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702517 S 2026 0 1 NRXN3 nsv528346 14 78753709 78817004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704930 S 2026 0 1 NRXN3 nsv513413 14 78793301 78793646 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625811 S 1 1 0 NRXN3 1 esv2471037 14 78793325 78793924 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228894 S 1 1 0 NRXN3 NA18507 nsv902111 14 78876950 78960430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527411 S 6533 0 1 NRXN3 SP58408 nsv902112 14 79009146 79120524 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597029 S 6533 1 0 NRXN3 IS40707 nsv521160 14 79033322 79041588 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697820 S 2026 1 0 NRXN3 esv28866 14 79050968 79051803 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16552 S 451 0 3 NRXN3 NA18517,NA18861,NA19240 nsv518333 14 79105347 79111379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695762 S 2026 0 1 NRXN3 nsv1369 14 79132597 79164964 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4126 S 9 1 0 NRXN3 NA12878 nsv827003 14 79140439 79141479 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425316 S 31 0 1 NRXN3 AK2 esv2404426 14 79165708 79166141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686405 S 1 0 1 NRXN3 NA18507 nsv511536 14 79168636 79185313 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626159 S 1 0 1 NRXN3 1 nsv1370 14 79173263 79191643 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4127 S 9 0 1 NRXN3 NA12878 dgv46e180 14 79174766 79185093 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989597,esv990270 M 3 0 1 NRXN3 HuRef nsv820296 14 79175432 79185172 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418584 S 2 1 0 NRXN3 AK1 nsv514754 14 79175888 79184280 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628217 S 1414 0 1 NRXN3 nsv512366 14 79175889 79185192 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624952 S 1 0 1 NRXN3 1 dgv378n67 14 79175912 79184839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827005,nsv827004 M 31 0 4 NRXN3 NA18542,NA18566,NA18947,NA18969 nsv820615 14 79175967 79184839 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421094 S 1 0 1 NRXN3 NA10851 esv22035 14 79176033 79184746 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19789 S 451 25 2 NRXN3 NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12776,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv498833 14 79176041 79184805 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585694 S 9 0 1 NRXN3 nsv84516 14 79176042 79184802 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103094 M 24 NRXN3 esv32903 14 79176066 79184140 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101568,essv101117,essv101022,essv98238,essv94824,essv94384,essv97823,essv97412,essv101753,essv95789,essv98954,essv92703,essv93731,essv96133,essv96719,essv97143,essv98636,essv100058,essv93593,essv98116,essv97718,essv100483,essv98345,essv96306,essv94206 M 51 0 25 NRXN3 21603,21618,21693,21772,21791,21808,21837,21879,21909,21911,21938,21944,21972,22007,22011,22075,22085,22086,22128,22259,22278,22298,22352,22371,22394 esv33123 14 79184848 79185577 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98532 S 51 1 0 NRXN3 22085 nsv902113 14 79241847 79999452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597030 S 6533 1 0 DIO2,LOC100628307,NRXN3 IS40707 esv7301 14 79256430 79256505 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29742 S 1 1 0 NRXN3 SJK esv22714 14 79295297 79300108 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14216 S 451 0 5 NRXN3 NA18505,NA18508,NA18858,NA19099,NA19225 esv1541911 14 79381801 79381891 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642336 S 2 0 1 NRXN3 HuRef nsv819807 14 79389912 79390376 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418964 S 2 1 0 NRXN3 AK1 nsv433530 14 79416423 79426827 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463411 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv832839 14 79454965 79643895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451064 S 95 1 0 "" nsv902114 14 79480345 79548170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598354 S 6533 0 1 "" IS40862 nsv827006 14 79544284 79544783 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426118 S 31 1 0 "" AK4 esv274977 14 79661676 79668194 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585265 S 1250 0 1 "" esv27740 14 79722786 79724075 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20063 S 451 0 1 "" NA12239 esv25191 14 79760890 79767534 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13030 S 451 1 0 DIO2,LOC100628307 NA12878 nsv902115 14 79770104 79913992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523408 S 6533 1 0 LOC100628307 SP54007 nsv1371 14 79789231 79831257 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4634 S 9 0 1 LOC100628307 NA19129 esv2452619 14 79862671 79864117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179748 S 1 0 1 LOC100628307 NA18507 esv274918 14 79890454 79896950 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586126,essv2585358 M 1250 1 1 LOC100628307 esv29285 14 79892969 79895862 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21227 S 451 0 1 LOC100628307 NA11995 nsv523797 14 79927509 79928087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699625 S 2026 0 1 LOC100628307 nsv1372 14 79940805 79974413 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5514 S 9 1 0 LOC100628307 NA19129 nsv85424 14 79953920 79953969 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104002 M 24 LOC100628307 esv26502 14 79970353 80009656 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15289 S 451 1 0 LOC100628307 NA12878 nsv520394 14 79985343 79993221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672261,nssv693742,nssv663668,nssv675745,nssv672760 M 2026 0 5 LOC100628307 nsv1373 14 79986727 80020983 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1212 S 9 1 0 LOC100628307 NA19240 esv1000822 14 80021977 80025331 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565489 S 3 1 0 "" HuRef esv1456247 14 80024311 80024311 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820369 S 2 1 0 "" HuRef nsv902116 14 80087990 80152153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562518 S 6533 0 1 CEP128 MS25617 esv1363737 14 80265190 80265190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924398 S 2 1 0 CEP128 HuRef esv2433413 14 80325150 80326636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313471 S 1 0 1 CEP128 NA18507 esv2515564 14 80332384 80333869 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292463 S 1 0 1 CEP128 NA18507 nsv832840 14 80339786 80493336 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451065 S 95 1 0 CEP128,TSHR nsv456346 14 80469445 80518135 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533684 S 1557 0 1 CEP128,TSHR 1780862310_A esv2585992 14 80538331 80539836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229441 S 1 0 1 TSHR NA18507 esv2036394 14 80538678 80539372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787726 S 1 0 1 TSHR NA18507 esv5863 14 80538883 80539163 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28304 S 1 0 1 TSHR SJK nsv1374 14 80601961 80633495 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10920 S 9 1 0 TSHR NA15510 nsv9159 14 80631708 80634071 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25328 S 31 0 1 Samples from several populations that are part of the HapMap project. TSHR NA18860 nsv832841 14 80658075 80813674 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451066,nssv1451067 M 95 2 0 GTF2A1,SNORA79,STON2,TSHR esv2495579 14 80666346 80667728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382173 S 1 0 1 TSHR NA18507 esv2265006 14 80666594 80667307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949118 S 1 0 1 TSHR NA18507 esv4614 14 80666758 80667236 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27055 S 1 0 1 Single Asian sample YH TSHR YH esv7865 14 80666803 80667109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30306 S 1 0 1 TSHR SJK nsv902117 14 80713553 80752145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504053 S 6533 0 1 GTF2A1,SNORA79 SP52172 nsv902118 14 80749403 80785742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511483 S 6533 0 1 GTF2A1 SP55021 esv1001220 14 80855387 80859159 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564626 S 3 1 0 STON2 HuRef esv270981 14 80856511 80858195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519189,essv2518801,essv2515114,essv2515674,essv2516038,essv2517552,essv2516238,essv2516881,essv2517254,essv2519141,essv2513870,essv2515213,essv2518867,essv2518210,essv2519376 M 157 15 0 Samples from several populations that are part of the HapMap project. STON2 NA07346,NA11894,NA12045,NA12812,NA12815,NA12873,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv273749 14 80856512 80858186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581766,essv2582638,essv2582782,essv2583899,essv2584836,essv2583459 M 7 6 0 Samples from several populations that are part of the HapMap project. STON2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1012064 14 80856535 80856535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128832 S 2 1 0 STON2 HuRef nsv902119 14 80880698 80954610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556756 S 6533 0 1 STON2 MS22146 nsv510645 14 80944377 80976757 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617417 S 4 0 1 "" CHM esv6915 14 80947966 80950373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29356 S 1 0 1 "" SJK esv23176 14 80947980 80950333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16236,esv19331 M 451 0 14 "" NA11993,NA12414,NA12489,NA15510,NA18517,NA18523,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19225,NA19257 nsv902120 14 81022995 81137308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568323 S 6533 1 0 SEL1L IS31233 nsv902121 14 81145222 81216291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515983 S 6533 0 1 "" SP56331 nsv513414 14 81185574 81186206 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625812 S 1 1 0 "" 1 esv2582919 14 81185649 81186129 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341811 S 1 1 0 "" NA18507 nsv1375 14 81186115 81207911 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9223 S 9 0 1 "" NA12156 nsv528783 14 81198589 81216291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705450 S 2026 0 1 "" dgv139n21 14 81206593 81244094 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523456,nsv521291 M 2026 0 2 "" nsv525823 14 81289303 81337698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702011 S 2026 0 1 "" esv273970 14 81293190 81293500 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580900,essv2579393 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268154 14 81293190 81293526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530521,essv2557527,essv2532087,essv2569531,essv2578634,essv2550180,essv2539000,essv2527093,essv2561476,essv2541326,essv2531072,essv2535638,essv2566728,essv2550986,essv2568909,essv2527778,essv2567044,essv2556075,essv2522329,essv2573364,essv2575639,essv2575319,essv2524154,essv2574690,essv2530359,essv2572908,essv2545241,essv2545892 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18499,NA18505,NA18508,NA18510,NA18511,NA18519,NA18522,NA18523,NA18545,NA18573,NA18608,NA18853,NA18858,NA18861,NA18907,NA18947,NA18956,NA18960,NA18964,NA19099,NA19102,NA19129,NA19138,NA19141,NA19143,NA19172,NA19239 esv268347 14 81319607 81319903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515787 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 esv22428 14 81379642 81391446 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11379 S 451 1 0 "" NA12878 nsv1377 14 81544176 81608400 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4128,nssv10027,nssv2082,nssv5515,nssv1213 M 9 0 5 "" NA12878,NA18555,NA18956,NA19129,NA19240 nsv510646 14 81556771 81576635 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622688 S 4 0 1 "" NA18994 nsv511543 14 81559007 81574798 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626167 S 1 1 0 "" 1 esv2601243 14 81567907 81573433 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280396 S 1 0 1 "" NA18507 nsv436185 14 81568503 81574047 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466767 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2362485 14 81568690 81573262 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503094 S 1 0 1 "" NA18507 esv5162 14 81568706 81573198 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27603 S 1 0 1 Single Asian sample YH "" YH esv2521595 14 81568757 81575238 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355421 S 1 0 1 "" NA18507 dgv379n67 14 81568807 81573220 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827009,nsv827007,nsv827010 M 31 0 24 "" AK10,AK12,AK16,AK18,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997 nsv821436 14 81568807 81573220 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421095 S 1 0 1 "" NA10851 nsv514755 14 81568832 81572688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628218 S 1414 0 1 "" dgv47e180 14 81568838 81573220 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995743,esv992899 M 3 0 1 "" HuRef esv994833 14 81568856 81573660 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565254 S 3 0 1 "" HuRef nsv498834 14 81568862 81573082 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585695 S 9 0 1 "" esv9394 14 81568865 81573084 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31835 S 1 0 1 "" SJK esv28377 14 81568879 81573106 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12214 S 451 12 11 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12489,NA12828,NA12878,NA18502,NA18508,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19147,NA19190,NA19225,NA19240,NA19257 nsv442349 14 81705838 81708578 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv902122 14 81714093 81753386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559797,nssv1546025 M 6533 0 2 "" MS17112,MS24151 esv259773 14 81812276 81812671 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398627,essv2400054,essv2398785,essv2399029,essv2398468,essv2395298,essv2400924,essv2396254,essv2400286,essv2394971,essv2396045,essv2399885,essv2396864,essv2398844,essv2400410,essv2398198,essv2394815 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA10851,NA11894,NA11918,NA11993,NA12006,NA12154,NA18511,NA18537,NA18561,NA18579,NA18582,NA18592,NA18909,NA19114 nsv902123 14 81848356 81946257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517359 S 6533 0 1 "" SP57266 nsv832842 14 81940934 82124521 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451070,nssv1451069,nssv1451068 M 95 1 2 "" nsv526316 14 82036723 82036856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702601 S 2026 0 1 "" esv2521557 14 82044660 82046225 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296942 S 1 0 1 "" NA18507 nsv1378 14 82057311 82102846 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2083 S 9 0 1 "" NA18555 nsv827011 14 82065341 82067052 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422176,nssv1440647,nssv1433175,nssv1429394,nssv1426120,nssv1437751,nssv1430143,nssv1423745,nssv1427045,nssv1427830,nssv1439958,nssv1434704 M 31 0 12 "" AK12,AK14,AK4,AK6,AK8,NA18537,NA18547,NA18564,NA18570,NA18949,NA18972,NA18999 esv22483 14 82065559 82067186 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18364 S 451 0 2 "" NA18861,NA19190 esv2590163 14 82088871 82090267 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341228 S 1 0 1 "" NA18507 esv2117459 14 82089169 82089852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659995 S 1 0 1 "" NA18507 esv3471 14 82089315 82089692 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25912 S 1 0 1 Single Asian sample YH "" YH esv6313 14 82089347 82089651 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28754 S 1 0 1 "" SJK esv1581852 14 82089354 82089635 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171107 S 2 0 1 "" HuRef nsv84552 14 82089355 82089635 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103130 M 24 "" esv996481 14 82089363 82089643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575253 S 3 0 1 "" HuRef esv1101492 14 82104912 82104912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344175 S 2 1 0 "" HuRef dgv647e1 14 82105460 82216550 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv227,essv1919 M 271 0 0 "" NA18959 esv267531 14 82115742 82116038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508421,essv2499248,essv2501561,essv2511626,essv2503110,essv2505443 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18582,NA18605,NA18608,NA18940,NA18943,NA18952 esv2751286 14 82135791 82273410 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981348,essv6987943 M 771 0 1 "" BEC_389 esv1149520 14 82136738 82136738 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063219 S 2 1 0 "" HuRef nsv84311 14 82143346 82143346 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102889 M 24 "" esv24262 14 82224298 82225149 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10084 S 451 0 3 "" NA18861,NA18916,NA19225 nsv902124 14 82235273 82351916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590382 S 6533 1 0 "" IS38503 nsv902125 14 82265759 82315207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568975 S 6533 0 1 "" IS31373 nsv827012 14 82274081 82276554 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435918,nssv1424549,nssv1430144,nssv1439269,nssv1430905 M 31 0 5 "" AK14,AK16,NA18582,NA18592,NA18973 nsv1379 14 82310562 82345510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1214 S 9 1 0 "" NA19240 nsv510385 14 82378389 82384389 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618407,nssv624162,nssv621416 M 4 0 3 "" CHM,NA15510,NA18994 nsv456348 14 82484857 82513448 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533685 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00723 nsv511545 14 82492039 82507370 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626169 S 1 0 1 "" 1 esv27741 14 82504494 82507281 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18270 S 451 0 4 "" NA12004,NA12044,NA12828,NA19240 nsv512367 14 82504593 82507215 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624953 S 1 0 1 "" 1 nsv827013 14 82504883 82506811 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424550,nssv1430001,nssv1430906,nssv1426121,nssv1431624,nssv1422934 M 31 0 6 "" AK16,AK18,AK4,NA18552,NA18582,NA18947 nsv456349 14 82505512 82525788 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533686 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00423 nsv902126 14 82569417 82743140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577434 S 6533 0 1 "" IS34440 esv23549 14 82590139 82593097 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16426 S 451 0 1 "" NA19147 nsv902127 14 82594454 82815943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558765 S 6533 0 1 "" MS23531 nsv528552 14 82605133 82614184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705165 S 2026 0 1 "" dgv1962n71 14 82611147 82743140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902130,nsv902128,nsv902132,nsv902133 M 6533 0 14 "" IS30141,IS30409,IS32891,IS34996,IS40902,IS41964,MS11105,MS11703,MS18965,MS20850,MS21182,MS21294,MS23184,MS23495 esv2418394 14 82612920 82613352 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869044 S 1 0 1 "" NA18507 dgv1963n71 14 82620728 82678608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902129,nsv902131 M 6533 0 2 "" IS35993,IS37467 dgv1964n71 14 82632594 82794930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902140,nsv902134,nsv902135 M 6533 0 4 "" IS41955,MS21325,MS21717,MS21868 nsv456350 14 82636173 84440848 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533687 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00885 nsv513415 14 82656849 82657138 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625813 S 1 1 0 "" 1 esv1512332 14 82656930 82656930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143624 S 2 1 0 "" HuRef dgv1965n71 14 82657050 82743140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902143,nsv902136,nsv902141,nsv902144,nsv902139,nsv902138,nsv902137 M 6533 0 22 "" IS30146,IS34572,IS34779,IS35789,IS36640,IS41809,IS41838,IS41848,IS41887,IS41895,IS41939,IS41971,MS16711,MS17359,MS19414,MS20630,MS21059,MS21195,MS21356,MS21738,MS22093,MS22898 nsv520676 14 82662837 82668981 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673867,nssv677939 M 2026 0 2 "" nsv902142 14 82662837 82758347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554508 S 6533 0 1 "" MS20843 dgv1966n71 14 82688145 82826177 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902146,nsv902145 M 6533 0 3 "" IS37743,IS41921,MS19630 esv2620727 14 82705019 82706990 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187240 S 1 0 1 "" NA18507 esv1008145 14 82705062 82706383 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564141 S 3 0 1 "" HuRef nsv512368 14 82705142 82706910 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624954 S 1 0 1 "" 1 esv2081127 14 82705396 82706444 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838086 S 1 0 1 "" NA18507 esv4051 14 82705574 82706310 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26492 S 1 0 1 Single Asian sample YH "" YH esv998591 14 82705598 82706244 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580028 S 3 0 1 "" HuRef esv7210 14 82705602 82706235 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29651 S 1 0 1 "" SJK esv1563541 14 82705606 82706253 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185196 S 2 0 1 "" HuRef nsv84907 14 82705607 82706253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103485 M 24 "" dgv1967n71 14 82720294 82826177 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902149,nsv902148,nsv902150,nsv902147 M 6533 0 16 "" IS30035,IS30969,IS33544,IS34381,IS35390,IS36728,IS37149,IS37752,IS38137,IS38263,IS38987,IS39647,IS40024,IS40248,IS40280,SP81059 nsv902151 14 82743140 82815943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591365 S 6533 0 1 "" IS38735 nsv509541 14 82819216 82829291 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619653 S 4 1 0 "" NA10860 nsv510647 14 82819216 82833764 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622689 S 4 0 1 "" NA18994 dgv1968n71 14 82828151 82958196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902153,nsv902152 M 6533 0 2 "" IS33566,MS25304 nsv524605 14 82847656 82861958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700566 S 2026 0 1 "" nsv902154 14 82861958 83092766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583588 S 6533 0 1 "" IS36533 esv24007 14 82862606 82863246 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15279 S 451 0 1 "" NA12239 nsv902155 14 82868077 82926700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537600 S 6533 0 1 "" MS13254 esv272026 14 82875344 82875431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565593,essv2540788,essv2544087,essv2545425,essv2576473,essv2566212,essv2531263,essv2567479,essv2533282,essv2563538 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA11829,NA11831,NA11992,NA12003,NA12814,NA18572,NA18573,NA18582 nsv902156 14 82892479 82958196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574304 S 6533 0 1 "" IS33533 nsv456353 14 82916526 82947662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533688 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01368 nsv527905 14 82926700 83014073 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704409 S 2026 1 0 "" nsv832843 14 82961486 83107826 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451071 S 95 1 0 "" esv1232197 14 82970163 82970253 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078052 S 2 0 1 "" HuRef nsv527588 14 83111043 83116313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704049 S 2026 0 1 "" nsv517398 14 83114478 83116313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674847,nssv651905,nssv692401,nssv668247,nssv659157,nssv686417,nssv667651,nssv688185,nssv665477,nssv662903,nssv690236 M 2026 0 11 "" dgv1969n71 14 83127962 83242076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902158,nsv902157 M 6533 0 2 "" MS15199,MS22590 nsv1380 14 83191133 83223560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6605 S 9 1 0 "" NA12156 dgv648e1 14 83206211 83363593 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2506,esv390 M 271 0 0 "" NA19003 nsv832844 14 83206213 83363580 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451074 S 95 0 1 "" nsv520389 14 83211789 83221434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694380 S 2026 0 1 "" nsv510386 14 83235764 83241764 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618408,nssv624163,nssv621417,nssv622250 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv523156 14 83287267 83288874 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698865 S 2026 0 1 "" esv2751287 14 83364240 83408000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987661,essv6984723 M 771 1 0 "" SPC_169 nsv520014 14 83381720 83406697 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681764,nssv660088 M 2026 2 0 "" nsv902159 14 83406697 83517109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587277 S 6533 1 0 "" IS37999 esv270096 14 83428615 83428703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576032,essv2571627,essv2522826,essv2523213,essv2552031,essv2520300,essv2547348,essv2525024,essv2563371 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11830,NA11840,NA11931,NA12004,NA12489,NA12716,NA12717 nsv1381 14 83433382 83437479 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4129 S 9 1 0 "" NA12878 nsv84850 14 83439981 83440985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103428 M 24 "" nsv528927 14 83448122 83460144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705617 S 2026 0 1 "" esv22409 14 83503974 83510694 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11303 S 451 0 1 "" NA19147 nsv516829 14 83507138 83507827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675163,nssv685481,nssv654284 M 2026 0 3 "" esv2491094 14 83526857 83527948 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178507 S 1 1 0 "" NA18507 esv271838 14 83527231 83527567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496770,essv2510712,essv2494360,essv2504097,essv2493806,essv2506252,essv2495518,essv2501457,essv2504745,essv2497573,essv2495070 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA18498,NA18501,NA18502,NA18505,NA18517,NA18523,NA18916,NA19093,NA19099,NA19147 nsv827014 14 83534221 83535407 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427831 S 31 1 0 "" AK8 esv1427420 14 83535226 83535310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215740 S 2 0 1 "" HuRef nsv1382 14 83557300 83601990 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9225 S 9 0 1 "" NA12156 nsv510387 14 83652469 83658469 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624164 S 4 0 1 "" NA18994 dgv140n21 14 83666556 83667977 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525665,nsv528960 M 2026 0 2 "" nsv518279 14 83667977 83681841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695710 S 2026 0 1 "" esv995381 14 83675423 83675631 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579184 S 3 0 1 "" HuRef nsv85291 14 83675425 83675633 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103869 M 24 "" esv270050 14 83702459 83702796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521160,essv2525949,essv2522712,essv2535352,essv2565505,essv2537431,essv2528257,essv2546988,essv2530357 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA11931,NA12249,NA12812,NA12878,NA12891,NA12892,NA19141 esv273754 14 83702461 83702794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581985,essv2582655,essv2582990 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1778020 14 83728492 83728492 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353677 S 2 1 0 "" HuRef nsv85516 14 83733863 83741261 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104094 M 24 "" nsv902160 14 83764620 83800338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601174 S 6533 1 0 "" IS41981 nsv902161 14 83769619 83839656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546235 S 6533 0 1 "" MS17114 nsv832845 14 83796131 83969952 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451075 S 95 0 1 "" esv8156 14 83883276 83883327 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30597 S 1 1 0 "" SJK esv2751288 14 83885083 84773800 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989773,essv6983337,essv6983338,essv6989359 M 771 0 1 "" BEC_64 nsv85151 14 83927753 83930194 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103729 M 24 "" nsv902162 14 84118710 84200917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586516 S 6533 0 1 "" IS37848 esv2273204 14 84131813 84132830 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693797 S 1 0 1 "" NA18507 esv1567931 14 84132402 84132402 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924119 S 2 1 0 "" HuRef esv2516457 14 84207899 84209701 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198943 S 1 0 1 "" NA18507 esv2128931 14 84208717 84209556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862679 S 1 0 1 "" NA18507 nsv85605 14 84208899 84209378 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104183 M 24 "" esv8527 14 84208899 84209381 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30968 S 1 0 1 "" SJK nsv821291 14 84208902 84209496 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421096 S 1 0 1 "" NA10851 nsv827015 14 84208902 84209496 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425318 S 31 1 0 "" AK2 esv24201 14 84208915 84209380 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11839 S 451 3 0 "" NA11931,NA12004,NA18858 nsv819254 14 84208932 84209354 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418945 S 2 1 0 "" AK1 esv995253 14 84223824 84224022 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569314 S 3 0 1 "" HuRef esv1033277 14 84223880 84224079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028998 S 2 0 1 "" HuRef nsv902163 14 84234953 84459887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582462 S 6533 0 1 "" IS35963 nsv84619 14 84263822 84267492 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103197 M 24 "" esv21782 14 84346679 84348341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19813 S 451 0 1 "" NA18523 nsv1383 14 84347252 84400000 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6606,nssv2084 M 9 0 2 "" NA12156,NA18555 nsv510648 14 84354998 84374613 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617418 S 4 0 1 "" CHM nsv435648 14 84365867 84372038 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466768 S 2 0 1 "" NA15510 dgv380n67 14 84366629 84372004 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827018,nsv827017,nsv827016 M 31 0 17 "" AK14,AK18,AK20,AK8,NA18537,NA18542,NA18547,NA18552,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 nsv821314 14 84366629 84372004 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421097 S 1 0 1 "" NA10851 nsv819117 14 84366689 84371875 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419689 S 2 1 0 "" AK1 esv21775 14 84366768 84372004 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20885 S 451 25 2 "" NA06985,NA11894,NA12004,NA12006,NA12044,NA12239,NA12287,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv48e180 14 84366810 84371906 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004152,esv1007720 M 3 1 0 "" HuRef esv6715 14 84366868 84371903 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29156 S 1 0 1 "" SJK nsv514756 14 84366968 84371856 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628219 S 1414 0 1 "" nsv84459 14 84400941 84402717 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103037 M 24 "" dgv381n67 14 84429866 84434696 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827020,nsv827021 M 31 0 4 "" AK12,AK18,NA18566,NA18582 esv27943 14 84473964 84476840 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16695 S 451 0 1 "" NA18523 esv259460 14 84484632 84485052 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393678,essv2394041,essv2394345 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259670 14 84484643 84485066 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394790,essv2400254,essv2395845,essv2396736,essv2395291,essv2395753,essv2399402,essv2396649,essv2398284,essv2394723,essv2395611,essv2397631,essv2397817,essv2396606,essv2399242,essv2396490,essv2395037,essv2397460,essv2399342,essv2397435,essv2398854,essv2399420,essv2398250,essv2395457,essv2394570,essv2398305,essv2400987,essv2395197,essv2399804,essv2398031,essv2398118,essv2398696,essv2395998,essv2397076,essv2400479 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11829,NA11830,NA11831,NA11918,NA12004,NA12287,NA12414,NA12763,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18517,NA18519,NA18520,NA18522,NA18566,NA18582,NA18858,NA18909,NA18948,NA18965,NA19093,NA19099,NA19108,NA19129,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240 nsv85036 14 84492915 84493006 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103614 M 24 "" dgv1970n71 14 84513285 84597869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902166,nsv902164 M 6533 0 2 "" IS33738,IS36787 dgv1971n71 14 84522853 84578146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902167,nsv902165 M 6533 0 2 "" MS16361,MS18847 nsv1384 14 84562088 84596048 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2924 S 9 1 0 "" NA18555 nsv523883 14 84567439 84568918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699725 S 2026 0 1 "" nsv832846 14 84587489 84785403 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451076,nssv1451078,nssv1451077 M 95 3 0 "" nsv9160 14 84630054 84634301 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23879 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 dgv649e1 14 84633513 84635740 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19477,esv1301 M 271 0 0 "" NA12750 nsv456356 14 84692463 84734232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533689 S 1557 1 0 "" 1780854261_A nsv84514 14 84746678 84746813 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103092 M 24 "" nsv902168 14 84763657 84786545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591486 S 6533 0 1 "" IS38846 esv2422273 14 84772902 84837045 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161386 S 181 0 1 "" ND04586 nsv507763 14 84799312 84805312 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619132 S 4 1 0 "" NA10860 nsv456357 14 84924908 84965914 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533690 S 1557 0 1 "" NINDS_172 nsv510388 14 85052410 85058410 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624165 S 4 0 1 "" NA18994 nsv85122 14 85151820 85151820 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103700 M 24 FLRT2 nsv1385 14 85204559 85238350 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9226 S 9 1 0 "" NA12156 nsv84892 14 85213147 85220123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103470 M 24 "" esv28547 14 85219469 85223356 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10208 S 451 2 0 "" NA18909,NA19257 dgv650e1 14 85228067 85495155 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv506,essv17820 M 271 0 0 "" NA10831 essv6530 14 85252320 85260552 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18611 nsv902169 14 85252371 85704434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576865 S 6533 0 1 "" IS34289 nsv84998 14 85262763 85262826 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103576 M 24 "" esv1339319 14 85262776 85262838 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751285 S 2 0 1 "" HuRef nsv516853 14 85312721 85313667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654442,nssv693661 M 2026 0 2 "" nsv9161 14 85334444 85336704 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23906 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv9162 14 85352528 85353978 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22358 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12155 nsv9163 14 85355002 85384898 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22327,nssv22388 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155 esv2421916 14 85356065 85381926 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015907,essv5048843,essv5145641,essv5079425,essv5071057,essv5012470,essv5151787,essv5148166,essv5141847,essv5154607,essv5042986,essv5057540,essv5152447,essv5114125,essv5130588 M 1184 0 15 "" NA10831,NA11830,NA11919,NA12155,NA12842,NA12877,NA12889,NA19711,NA19908,NA19919,NA20506,NA20586,NA20773,NA20796,NA21108 nsv442350 14 85356069 85381922 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517154 14 85357100 85379917 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671226,nssv661777,nssv657611,nssv671824,nssv665646,nssv670362,nssv673868,nssv664628,nssv667146,nssv693148,nssv654426,nssv671983,nssv688306,nssv692447,nssv692326,nssv686807,nssv683073,nssv698695,nssv659796,nssv651729,nssv691974,nssv690341,nssv675431,nssv652712,nssv672761,nssv656756,nssv661038,nssv691818,nssv661382,nssv684744,nssv667564,nssv678319,nssv671997,nssv692311,nssv684098,nssv693799,nssv683222,nssv681035,nssv675194,nssv688741,nssv658537,nssv670201,nssv687132,nssv678454,nssv655232,nssv652237,nssv665545,nssv657018,nssv653882,nssv651868,nssv655541,nssv672523,nssv688103,nssv693205,nssv674144,nssv687632,nssv688573,nssv664471 M 2026 3 55 "" dgv258n27 14 85357100 85407365 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456358,nsv456360,nsv456359 M 1557 0 3 "" 1780862379_A,1780862401_A,1798860114_A nsv514757 14 85363928 85367104 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627144 S 1414 0 0 "" esv25750 14 85382793 85383248 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12859 S 451 1 0 "" NA19257 esv1695735 14 85382824 85382926 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235851 S 2 0 1 "" HuRef nsv509542 14 85445670 85468386 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618108,nssv619654 M 4 2 0 "" CHM,NA10860 nsv470652 14 85495990 85569852 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547589,nssv547585,nssv547588,nssv547587,nssv547586 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00883,HGDP00890,HGDP00912,HGDP01357,HGDP01361 nsv456361 14 85496715 85569852 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533694 S 1557 0 1 "" 1780854459_A nsv832848 14 85513247 85678204 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451079 S 95 0 1 "" dgv259n27 14 85519117 85557882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456364,nsv456362 M 1557 0 2 "" 1782681087_A,NINDS_96 dgv651e1 14 85520078 85568590 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21486,esv1180,essv19704 M 271 0 0 "" NA10830,NA12236 dgv1972n71 14 85526202 85560365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902171,nsv902170 M 6533 0 6 "" IS31570,IS34769,IS37946,IS38111,IS39521,IS40799 esv1009610 14 85527289 85559832 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563546 S 3 0 1 "" HuRef dgv49e180 14 85527520 85560365 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1000664,esv1000573,esv994629,esv992050 M 3 0 1 "" HuRef esv2421841 14 85528167 85559964 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5125619,essv5041689,essv5034217,essv5053483,essv5130357,essv5089638,essv5152913,essv5127584,essv5144079,essv5132502,essv5111122,essv5116169,essv5158277,essv5159852,essv5037749,essv5015012,essv5147303 M 1184 0 17 "" NA10830,NA12045,NA12716,NA19649,NA19656,NA19669,NA19671,NA20589,NA20773,NA20787,NA21316,NA21403,NA21417,NA21512,NA21514,NA21519,NA21615 nsv442351 14 85530379 85558194 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv20507 14 85530668 85559964 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12716 nsv514758 14 85530840 85557448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628220 S 1414 0 1 "" nsv817639 14 85533951 85557882 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415598,nssv1415599 M 112 0 2 "" NA10830,NA12236 dgv260n27 14 85533951 85558846 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456369,nsv456379,nsv456377,nsv456378,nsv456368,nsv456373,nsv456365,nsv456381,nsv456366,nsv456380,nsv456386,nsv456375,nsv456372,nsv456376,nsv456370,nsv456367,nsv456371 M 1557 0 17 "" 1780854417_A,1780854465_A,1780854496_A,1780862207_A,1780862384_A,1782681095_A,HGDP00514,HGDP00680,HGDP00683,HGDP00725,HGDP00799,HGDP00883,HGDP00912,HGDP01278,HGDP01357,HGDP01361,HGDP01374 dgv261n27 14 85533951 85569852 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456383,nsv456387,nsv456382 M 1557 0 3 "" 1780862540_A,HGDP00668,HGDP01265 nsv515736 14 85533951 85569852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690495,nssv658281,nssv691553,nssv664629,nssv671173,nssv673558,nssv670435,nssv669337,nssv680813,nssv699959,nssv667962,nssv670386,nssv655857,nssv689551,nssv670934,nssv661803,nssv693529,nssv666749,nssv674928,nssv673108,nssv662271,nssv654517,nssv691350,nssv666622,nssv685977,nssv683413,nssv683535,nssv681870,nssv667722,nssv693031,nssv677063,nssv668721,nssv670092,nssv658441 M 2026 0 34 "" nsv456384 14 85533951 85596519 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533717 S 1557 0 1 "" 1780854441_A nsv470653 14 85584928 85687005 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547591 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00613 nsv456388 14 85584928 85696007 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533721 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00613 nsv902172 14 85596519 85765453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555510 S 6533 0 1 "" MS21397 nsv1386 14 85607155 85652240 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9227 S 9 0 1 "" NA12156 nsv827022 14 85616420 85641628 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427833 S 31 0 1 "" AK8 nsv524909 14 85617476 85624336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700920 S 2026 0 1 "" nsv827023 14 85625564 85632139 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430908 S 31 1 0 "" AK16 esv29354 14 85638378 85641518 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9876 S 451 0 1 "" NA18861 esv271556 14 85700421 85700750 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540960,essv2546531,essv2542596,essv2536622,essv2545568,essv2577499,essv2570563,essv2548362,essv2521775,essv2550797,essv2554169,essv2520468,essv2529163,essv2564592,essv2577953,essv2559498,essv2565394,essv2576367,essv2519946,essv2537548,essv2528421,essv2520831,essv2557501,essv2552616,essv2562615,essv2558958,essv2539176,essv2561395,essv2544897,essv2563025,essv2523778,essv2541390,essv2519538,essv2521911,essv2566153,essv2531142,essv2567924,essv2567475,essv2569900,essv2563709,essv2553496,essv2566964,essv2569035,essv2527783,essv2539340,essv2578328,essv2555330,essv2555656,essv2527529,essv2522415,essv2573687,essv2543079,essv2575638,essv2538550,essv2524064,essv2530299,essv2551269,essv2536101,essv2533154,essv2547739,essv2525002 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA07357,NA11831,NA11881,NA11919,NA11920,NA12003,NA12043,NA12044,NA12045,NA12144,NA12155,NA12287,NA12716,NA12749,NA12751,NA12761,NA12776,NA12812,NA12814,NA12815,NA12878,NA12891,NA18498,NA18499,NA18502,NA18507,NA18516,NA18519,NA18523,NA18526,NA18532,NA18537,NA18545,NA18566,NA18571,NA18572,NA18573,NA18577,NA18582,NA18593,NA18603,NA18605,NA18853,NA18861,NA18907,NA18912,NA18940,NA18943,NA18945,NA18952,NA18960,NA18964,NA18965,NA19099,NA19108,NA19129,NA19141,NA19257 esv273610 14 85700421 85700750 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581790,essv2582416 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv517818 14 85741888 85742994 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695223 S 2026 0 1 "" nsv902173 14 85742994 85794428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556228 S 6533 0 1 "" MS21866 esv1534514 14 85842263 85842338 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041165 S 2 0 1 "" HuRef nsv527549 14 85886914 85890958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704010 S 2026 0 1 "" esv2433662 14 85892161 85892226 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181485 S 1 0 1 "" NA18507 esv274272 14 85906026 85906393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580152,essv2580431,essv2579982 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv85361 14 85911744 85911744 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103939 M 24 "" esv270711 14 85932325 85932588 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510980,essv2508537 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA12717 nsv902174 14 85949066 86048242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577754,nssv1588778,nssv1539919,nssv1572427 M 6533 0 4 "" IS33044,IS34555,IS38242,MS14601 nsv513416 14 85966439 85966792 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625814 S 1 1 0 "" 1 nsv522623 14 85967953 86041768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706020 S 2026 0 1 "" nsv85780 14 85980050 85980265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104358 M 24 "" esv1582912 14 86001509 86001561 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795652 S 2 0 1 "" HuRef nsv456389 14 86006544 86072471 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533722 S 1557 0 1 "" NINDS_241 nsv85195 14 86011939 86011939 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103773 M 24 "" nsv516702 14 86011992 86018289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692869,nssv699710,nssv670235 M 2026 0 3 "" nsv1388 14 86015849 86026934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1216 S 9 1 0 "" NA19240 nsv84766 14 86052823 86052823 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103344 M 24 "" esv2017537 14 86077908 86078352 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807607 S 1 0 1 "" NA18507 nsv526516 14 86109464 86312816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702826 S 2026 0 1 "" nsv519455 14 86120559 86133887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656248,nssv657315 M 2026 0 2 "" nsv522747 14 86120848 86141467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698382 S 2026 0 1 "" esv21539 14 86122632 86124230 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12352 S 451 26 0 "" NA06985,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19225,NA19257 nsv821271 14 86122632 86124230 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421098 S 1 0 1 "" NA10851 nsv832849 14 86151504 86340207 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451080,nssv1451081 M 95 2 0 "" dgv652e1 14 86259051 86411966 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5567,essv1358,esv125 M 271 0 0 "" NA18529,NA19007 esv2381591 14 86294106 86294552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641457 S 1 0 1 "" NA18507 nsv526981 14 86335282 86412734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703354 S 2026 0 1 "" nsv526812 14 86336181 86352849 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703166 S 2026 1 0 "" nsv84334 14 86345022 86345099 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102912 M 24 "" nsv9164 14 86402159 86405008 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22357 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv527512 14 86410110 86412734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703966 S 2026 0 1 "" esv268613 14 86445282 86445367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515782,essv2518853,essv2518385 M 157 3 0 Samples from several populations that are part of the HapMap project. LOC283585 NA12815,NA19239,NA19240 esv274369 14 86445289 86445523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584750,essv2583293 M 7 2 0 Samples from several populations that are part of the HapMap project. LOC283585 NA19239,NA19240 nsv902175 14 86449033 86628568 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570410 S 6533 0 1 LOC283585 IS31980 esv270468 14 86468811 86469093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526224,essv2577208,essv2558272,essv2559767,essv2537382,essv2557166,essv2544622,essv2565176,essv2534808,essv2560952,essv2559924,essv2530917,essv2567380,essv2541730,essv2553404,essv2533479,essv2534480,essv2522529,essv2571981,essv2545201,essv2548093,essv2545782,essv2574074 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12043,NA12750,NA12776,NA12878,NA18501,NA18526,NA18558,NA18561,NA18562,NA18570,NA18573,NA18582,NA18592,NA18605,NA18944,NA18959,NA18960,NA18973,NA19172,NA19210,NA19239,NA19240 esv272711 14 86468816 86469032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581744,essv2584439,essv2583576 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239,NA19240 esv2217046 14 86479883 86480305 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627536 S 1 0 1 "" NA18507 nsv902176 14 86487768 86724029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577361 S 6533 1 0 "" IS34416 nsv523432 14 86497395 86587947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699187 S 2026 0 1 "" nsv85640 14 86512662 86516297 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104218 M 24 "" nsv902177 14 86660291 86832367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558721 S 6533 0 1 "" MS23495 nsv902178 14 86727760 86838788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568498 S 6533 0 1 "" IS31294 nsv902179 14 86727760 86972391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553633 S 6533 0 1 "" MS20229 nsv902180 14 86791050 86856426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552723 S 6533 0 1 "" MS19587 esv2588142 14 86926935 86928594 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197492 S 1 0 1 "" NA18507 esv2080008 14 86927615 86928336 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997962 S 1 0 1 "" NA18507 esv4062 14 86927769 86928202 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26503 S 1 0 1 Single Asian sample YH "" YH esv2453397 14 86927812 86928138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237110 S 1 0 1 "" NA18507 esv7456 14 86927816 86928134 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29897 S 1 0 1 "" SJK nsv85145 14 86927818 86928144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103723 M 24 "" nsv520432 14 87011521 87065371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677148,nssv671369 M 2026 0 2 "" nsv819648 14 87102811 87107121 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419626 S 2 1 0 "" AK1 dgv38n6 14 87128409 87128528 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv84395,nsv85628 M 24 "" nsv85890 14 87128427 87128562 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104468 M 24 "" nsv85075 14 87248465 87249825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103653 M 24 "" esv273614 14 87270156 87270265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584049,essv2583297 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv653e1 14 87460869 87500047 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1312,essv25183 M 271 0 0 GALC NA11840 dgv382n67 14 87462031 87469698 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827024,nsv827025 M 31 0 2 GALC AK14,NA18542 nsv442353 14 87468124 87492318 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GALC nsv514759 14 87469784 87484344 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628221 S 1414 0 0 GALC essv20520 14 87470106 87485253 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GALC NA12716 nsv9165 14 87470721 87481660 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23933 S 31 1 0 Samples from several populations that are part of the HapMap project. GALC NA18504 nsv515709 14 87477641 87489111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662713,nssv664498,nssv667594,nssv681890 M 2026 0 4 GALC esv271775 14 87485217 87485561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500413,essv2512958,essv2494565,essv2508217,essv2499872,essv2500108,essv2507584,essv2496120,essv2499314 M 157 9 0 Samples from several populations that are part of the HapMap project. GALC NA18537,NA18547,NA18550,NA18561,NA18562,NA18573,NA18576,NA18603,NA18605 nsv1389 14 87548487 87581197 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5518 S 9 0 1 GPR65 NA19129 nsv85408 14 87637840 87637990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103986 M 24 "" nsv85763 14 87731137 87733669 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104341 M 24 KCNK10 esv274199 14 87812340 87812425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581178 S 7 1 0 Samples from several populations that are part of the HapMap project. KCNK10 NA19240 nsv84705 14 87846338 87846338 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103283 M 24 KCNK10 esv273157 14 87923463 87923814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578888 S 7 1 0 Samples from several populations that are part of the HapMap project. SPATA7 NA19239 esv268022 14 87928907 87929137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494743,essv2509037,essv2497045,essv2501867,essv2498149 M 157 5 0 Samples from several populations that are part of the HapMap project. SPATA7 NA18519,NA18522,NA19190,NA19239,NA19240 esv2619552 14 87928937 87930378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263150 S 1 0 1 SPATA7 NA18507 esv273099 14 87928947 87929276 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584529,essv2583730 M 7 2 0 Samples from several populations that are part of the HapMap project. SPATA7 NA19239,NA19240 esv2568808 14 87958985 87960470 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212233 S 1 0 1 SPATA7 NA18507 esv2276274 14 87959617 87960123 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814305 S 1 0 1 SPATA7 NA18507 esv3753 14 87959676 87960118 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26194 S 1 0 1 Single Asian sample YH SPATA7 YH esv994338 14 87959771 87959928 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572485 S 3 0 1 SPATA7 HuRef nsv84810 14 87959773 87959929 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103388 M 24 SPATA7 nsv456391 14 87963963 88110070 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533723 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPN21,SPATA7,ZC3H14 HGDP00807 esv272216 14 88001981 88002146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580990,essv2579547 M 7 2 0 Samples from several populations that are part of the HapMap project. PTPN21 NA19238,NA19240 nsv516846 14 88040678 88077313 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681330,nssv654400 M 2026 2 0 PTPN21 nsv902181 14 88077313 88325597 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542350 S 6533 1 0 EML5,PTPN21,ZC3H14 MS15753 nsv820243 14 88144593 88145420 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419097 S 2 1 0 ZC3H14 AK1 nsv1390 14 88165982 88199055 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9228 S 9 1 0 EML5 NA12156 nsv509543 14 88200013 88238331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621004 S 4 1 0 EML5 NA15510 nsv1391 14 88213462 88244904 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4130 S 9 1 0 EML5 NA12878 esv998149 14 88217355 88220333 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564386 S 3 1 0 EML5 HuRef esv1437722 14 88220333 88220333 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3669841 S 2 1 0 EML5 HuRef esv268818 14 88245449 88245689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512614,essv2496245,essv2505180,essv2513490,essv2507440,essv2504669,essv2509524,essv2498877 M 157 8 0 Samples from several populations that are part of the HapMap project. EML5 NA18489,NA18511,NA18853,NA18907,NA18912,NA19099,NA19129,NA19138 esv1552947 14 88247479 88247479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3682983 S 2 1 0 EML5 HuRef esv6674 14 88248206 88248297 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29115 S 1 1 0 EML5 SJK esv1000040 14 88325593 88325703 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572476 S 3 0 1 EML5 HuRef nsv85511 14 88325769 88325879 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104089 M 24 EML5 nsv832850 14 88350350 88407317 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451089,nssv1451088,nssv1451082,nssv1451085,nssv1451087,nssv1451086,nssv1451090,nssv1451091,nssv1451093,nssv1451092,nssv1451094,nssv1451083 M 95 10 2 TTC8 esv1011309 14 88469590 88478708 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565262 S 3 0 1 "" HuRef esv2641829 14 88477984 88479574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243676 S 1 0 1 "" NA18507 nsv527364 14 88478016 88487005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703795 S 2026 0 1 "" esv2159516 14 88478396 88479032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964765 S 1 0 1 "" NA18507 esv1726313 14 88478591 88478841 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044157 S 2 0 1 "" HuRef esv996160 14 88577231 88581398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564469 S 3 0 1 "" HuRef esv2097211 14 88604294 88604716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513472 S 1 0 1 "" NA18507 nsv832851 14 88611991 88804243 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451096 S 95 1 0 FOXN3 nsv526326 14 88729313 88730740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702616 S 2026 0 1 FOXN3 nsv528176 14 88841868 88845937 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704726 S 2026 0 1 FOXN3 nsv85548 14 88847591 88848381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104126 M 24 FOXN3 nsv512369 14 88896479 88900164 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624956 S 1 0 1 FOXN3 1 esv1286606 14 88896855 88896855 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363772 S 2 1 0 FOXN3 HuRef esv1206899 14 88896921 88897041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705750 S 2 0 1 FOXN3 HuRef esv1378771 14 88897097 88897163 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966516 S 2 0 1 FOXN3 HuRef esv1600275 14 88897260 88897449 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944506 S 2 0 1 FOXN3 HuRef esv1552920 14 88897481 88898307 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893600 S 2 0 1 FOXN3 HuRef esv1407895 14 88898399 88898465 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878120 S 2 0 1 FOXN3 HuRef esv1516315 14 88898506 88898644 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731088 S 2 0 1 FOXN3 HuRef esv1482284 14 88898681 88898735 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986665 S 2 0 1 FOXN3 HuRef esv1491660 14 88898783 88898843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995008 S 2 0 1 FOXN3 HuRef esv275436 14 88901830 88906011 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585681 S 1250 0 1 FOXN3 nsv832852 14 88913151 89087213 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451097 S 95 1 0 FOXN3,LOC400236 nsv442354 14 88923778 88925959 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FOXN3 esv27509 14 88952949 88953625 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14095 S 451 0 1 FOXN3,LOC400236 NA12004 nsv85015 14 88971489 88972386 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103593 M 24 FOXN3 esv1459170 14 89042358 89042407 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596930 S 2 0 1 FOXN3 HuRef nsv517465 14 89237223 89261881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676257,nssv692092,nssv669998,nssv678120,nssv669901,nssv669503,nssv652427,nssv687290,nssv677297,nssv685905,nssv671260,nssv677447,nssv681156,nssv661101,nssv693850,nssv679295,nssv661672,nssv657761,nssv668629,nssv681689,nssv692402,nssv670344,nssv679168,nssv683918,nssv652093,nssv692846,nssv693057 M 2026 0 27 "" esv24991 14 89314495 89315045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17445 S 451 0 1 "" NA12239 esv1461559 14 89324533 89324533 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845884 S 2 1 0 "" HuRef esv1165608 14 89324571 89324571 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100674 S 2 1 0 "" HuRef nsv832853 14 89355039 89526429 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451122,nssv1451121,nssv1451120,nssv1451114,nssv1451098,nssv1451099,nssv1451100,nssv1451104,nssv1451107,nssv1451123,nssv1451101,nssv1451102,nssv1451103,nssv1451105,nssv1451119,nssv1451110,nssv1451109,nssv1451108,nssv1451116,nssv1451111,nssv1451113,nssv1451112,nssv1451115,nssv1451118 M 95 24 0 EFCAB11,TDP1 nsv517864 14 89368467 89369294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695267 S 2026 0 1 EFCAB11 nsv832854 14 89414022 89606777 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451124 S 95 1 0 EFCAB11,KCNK13,TDP1 esv2481770 14 89459270 89460710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164419 S 1 0 1 EFCAB11 NA18507 nsv507764 14 89462864 89468864 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623174 S 4 1 0 EFCAB11 NA18994 nsv521779 14 89508733 89525941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694546 S 2026 0 1 TDP1 nsv1392 14 89579767 89624515 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9229 S 9 0 1 KCNK13,TDP1 NA12156 nsv85254 14 89612715 89612715 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103832 M 24 KCNK13 esv275480 14 89617784 89620544 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586035,essv2585614 M 1250 1 1 KCNK13 esv2652044 14 89836662 89837552 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390750 S 1 1 0 C14orf102 NA18507 nsv507765 14 89892718 89898718 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620573,nssv617891,nssv619133,nssv623175 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2399260 14 89980662 89981084 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4683650 S 1 0 1 "" NA18507 nsv85701 14 89980830 89980895 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104279 M 24 "" nsv902182 14 90003898 90053049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534739 S 6533 0 1 "" MS11726 esv259765 14 90019739 90020100 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394566 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18965 nsv470655 14 90025813 90056599 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547593 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00983 nsv470654 14 90025813 90097360 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547592 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TTC7B HGDP00978 nsv84550 14 90034302 90034435 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103128 M 24 "" nsv520068 14 90038127 90096985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691223,nssv702552,nssv674232,nssv691749,nssv677917,nssv660452,nssv683162 M 2026 0 7 TTC7B nsv456392 14 90044771 90097361 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533724 S 1557 0 1 TTC7B 1780862019_A dgv1973n71 14 90044771 90140541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902184,nsv902183 M 6533 0 2 TTC7B MS10311,MS16153 esv6214 14 90061466 90062092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28655 S 1 0 1 "" SJK nsv84673 14 90230818 90231192 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103251 M 24 TTC7B esv1131124 14 90230993 90230993 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730062 S 2 1 0 TTC7B HuRef esv270875 14 90254910 90255256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515498,essv2518606,essv2514973,essv2515589,essv2517907,essv2515985,essv2514242,essv2517600,essv2513762,essv2518291 M 157 10 0 Samples from several populations that are part of the HapMap project. TTC7B NA12249,NA12287,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA19143,NA19240 esv272559 14 90254910 90255256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581439,essv2581190 M 7 2 0 Samples from several populations that are part of the HapMap project. TTC7B NA12878,NA19240 esv1610604 14 90254947 90254947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361515 S 2 1 0 TTC7B HuRef nsv832855 14 90260052 90463757 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451126,nssv1451125,nssv1451127 M 95 0 3 RPS6KA5,TTC7B nsv516108 14 90327494 90331937 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678121,nssv666250,nssv692054,nssv688834,nssv674929 M 2026 0 5 TTC7B nsv817641 14 90327494 90331937 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415912,nssv1415913 M 112 0 2 TTC7B NA10861,NA11994 nsv1393 14 90365218 90399154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9230 S 9 1 0 "" NA12156 nsv832856 14 90383077 90567414 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451129 S 95 0 1 RPS6KA5 nsv521104 14 90620644 90625300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697789 S 2026 0 1 "" dgv141n21 14 90711987 90769171 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525422,nsv525655 M 2026 2 0 C14orf159,GPR68 nsv1394 14 90718114 90750643 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6607 S 9 1 0 C14orf159 NA12156 nsv832857 14 90721927 90862022 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451130 S 95 0 1 C14orf159,CCDC88C,GPR68 esv1001290 14 90757337 90767530 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565341 S 3 0 1 C14orf159 HuRef nsv819108 14 90761119 90768733 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419834 S 2 0 1 C14orf159,GPR68 AK1 nsv817642 14 90791814 90907243 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415700 S 112 1 0 CCDC88C NA12248 nsv517700 14 90808834 90833390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662140,nssv688905,nssv652893,nssv663796,nssv666750,nssv667342 M 2026 0 6 CCDC88C esv272545 14 90809439 90809754 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581122 S 7 1 0 Samples from several populations that are part of the HapMap project. CCDC88C NA19240 nsv456393 14 90812411 90868443 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533725 S 1557 0 1 CCDC88C NINDS_111 nsv1395 14 90825720 90842644 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1217 S 9 1 0 CCDC88C NA19240 esv25253 14 90828992 90829961 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11282 S 451 0 5 CCDC88C NA18502,NA18517,NA19114,NA19240,NA19257 esv1730768 14 90829450 90829450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085389 S 2 1 0 CCDC88C HuRef esv1637561 14 90829552 90829552 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071862 S 2 1 0 CCDC88C HuRef nsv456394 14 90833390 90866874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533726 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC88C HGDP00970 nsv519459 14 90858704 90861514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696865 S 2026 0 1 CCDC88C esv2555842 14 91028836 91030884 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218576 S 1 0 1 SMEK1 NA18507 esv2333297 14 91029137 91030339 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4761725 S 1 0 1 SMEK1 NA18507 nsv525679 14 91061256 91067320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701837 S 2026 0 1 "" nsv526231 14 91063617 91067320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702497 S 2026 0 1 "" esv1488168 14 91093432 91093482 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023761 S 2 0 1 "" HuRef esv2589440 14 91166614 91167996 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323340 S 1 0 1 CATSPERB NA18507 nsv1396 14 91168913 91175422 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5519 S 9 1 0 CATSPERB NA19129 esv1003307 14 91170479 91170845 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564779 S 3 1 0 CATSPERB HuRef esv2430078 14 91194218 91195118 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245912 S 1 1 0 CATSPERB NA18507 esv267410 14 91194780 91195122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558064,essv2575957,essv2546283,essv2526214,essv2536514,essv2523061,essv2570901,essv2556629,essv2545411,essv2531848,essv2577266,essv2570433,essv2548425,essv2550833,essv2535421,essv2554033,essv2544282,essv2551971,essv2520330,essv2547366,essv2558704,essv2564519,essv2577790,essv2565416,essv2564114,essv2530582,essv2562060,essv2537595,essv2528584,essv2546842,essv2556919,essv2552605,essv2551714,essv2532113,essv2562554,essv2569383,essv2578792,essv2550044,essv2558774,essv2538947,essv2561719,essv2544720,essv2562850,essv2552892,essv2541125,essv2538351,essv2542733,essv2540435,essv2565112,essv2561019,essv2539585,essv2549230,essv2519872,essv2522276,essv2566244,essv2530994,essv2532747,essv2567804,essv2528953,essv2567503,essv2541664,essv2569912,essv2563723,essv2553181,essv2559222,essv2566748,essv2541943,essv2550942,essv2543694,essv2556433,essv2527891,essv2562355,essv2539243,essv2578358,essv2533593,essv2530014,essv2527642,essv2534223,essv2522649,essv2531556,essv2573425,essv2526955,essv2529821,essv2575528,essv2575033,essv2526705,essv2524198,essv2574836,essv2530452,essv2572894,essv2568685,essv2549667,essv2571388,essv2545925,essv2574522,essv2551234,essv2536107,essv2538046,essv2549053,essv2525057,essv2563288 M 157 101 0 Samples from several populations that are part of the HapMap project. CATSPERB NA06986,NA07000,NA07037,NA07357,NA10847,NA10851,NA11830,NA11881,NA11918,NA11920,NA11931,NA11993,NA11994,NA12003,NA12006,NA12043,NA12044,NA12045,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12812,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18519,NA18523,NA18526,NA18532,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18944,NA18949,NA18952,NA18959,NA18960,NA18961,NA18964,NA19005,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19141,NA19143,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv273550 14 91194780 91195122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581808,essv2582707,essv2582920,essv2583942,essv2584838,essv2583615 M 7 6 0 Samples from several populations that are part of the HapMap project. CATSPERB NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1421109 14 91194821 91194821 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130708 S 2 1 0 CATSPERB HuRef esv272067 14 91316973 91317230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496318,essv2494860,essv2501027,essv2498468,essv2513507,essv2499116,essv2497633 M 157 7 0 Samples from several populations that are part of the HapMap project. TC2N NA18510,NA18519,NA18856,NA18858,NA18907,NA19114,NA19147 esv275270 14 91420985 91423424 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585399 S 1250 0 1 FBLN5 nsv523266 14 91471338 91471387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699000 S 2026 0 1 FBLN5 dgv1974n71 14 91484133 91529711 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902185,nsv902187 M 6533 0 4 TRIP11 IS31563,IS31765,IS38057,IS40368 dgv1975n71 14 91484133 91696891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902186,nsv902189 M 6533 0 2 ATXN3,CPSF2,NDUFB1,TRIP11 IS30923,IS41634 nsv902188 14 91497101 91562681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567991 S 6533 0 1 TRIP11 IS31179 nsv527458 14 91510819 91595224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703900 S 2026 0 1 ATXN3,TRIP11 nsv523854 14 91533374 91550264 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699689 S 2026 1 0 TRIP11 nsv902190 14 91563189 91696891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579881 S 6533 0 1 ATXN3,CPSF2,NDUFB1,TRIP11 IS35181 nsv456395 14 91569101 91625808 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533727 S 1557 0 1 ATXN3,TRIP11 1780862309_A esv25101 14 91577866 91585538 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16625 S 451 1 0 "" NA12878 nsv85878 14 91607140 91607140 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104456 M 24 ATXN3 nsv819246 14 91649642 91657428 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419843 S 2 0 1 NDUFB1 AK1 nsv1397 14 91676289 91708615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6608 S 9 1 0 CPSF2 NA12156 esv999869 14 91687317 91691355 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565094 S 3 1 0 CPSF2 HuRef esv1267299 14 91689173 91689173 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944343 S 2 1 0 CPSF2 HuRef nsv902191 14 91714385 91757980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552724 S 6533 0 1 "" MS19587 dgv1976n71 14 91714385 91783836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902192,nsv902193 M 6533 0 3 "" IS33888,IS38264,IS41105 nsv525315 14 91728763 91741370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701423 S 2026 0 1 "" nsv523546 14 91738003 91739589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699324 S 2026 0 1 "" esv1327194 14 91787102 91787102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182177 S 2 1 0 "" HuRef nsv527567 14 91806357 91808898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704028 S 2026 0 1 "" nsv832859 14 91817742 91985996 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451131 S 95 0 1 SLC24A4 nsv85403 14 91833609 91833757 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103981 M 24 "" nsv902194 14 91855375 91921074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590433 S 6533 1 0 SLC24A4 IS38511 nsv902195 14 91904853 91930810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546850 S 6533 0 1 SLC24A4 MS17208 nsv902196 14 91933112 91970250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538531 S 6533 1 0 SLC24A4 MS13758 nsv827026 14 91936616 91939545 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432399 S 31 0 1 SLC24A4 AK20 nsv902197 14 91938221 91970250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596759 S 6533 0 1 SLC24A4 IS40627 nsv832860 14 91981546 92138262 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451132 S 95 1 0 RIN3,SLC24A4 nsv85147 14 91984478 91985377 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103725 M 24 SLC24A4 nsv902198 14 91999644 92036873 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538532 S 6533 1 0 SLC24A4 MS13758 nsv902199 14 92001751 92025138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537132 S 6533 0 1 SLC24A4 MS13095 esv2172968 14 92024442 92024885 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958036 S 1 0 1 SLC24A4 NA18507 nsv84566 14 92024517 92024668 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103144 M 24 SLC24A4 esv1013454 14 92024667 92024819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049461 S 2 0 1 SLC24A4 HuRef esv274487 14 92030217 92030302 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581342 S 7 1 0 Samples from several populations that are part of the HapMap project. SLC24A4 NA12878 esv275342 14 92055792 92062161 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585360 S 1250 0 1 RIN3 nsv509544 14 92079168 92121368 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619655 S 4 1 0 RIN3 NA10860 nsv513417 14 92083023 92083951 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625815 S 1 1 0 RIN3 1 esv1630206 14 92083442 92083442 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631996 S 2 1 0 RIN3 HuRef esv1499156 14 92083451 92083451 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3897287 S 2 1 0 RIN3 HuRef esv1485745 14 92083474 92083474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4216464 S 2 1 0 RIN3 HuRef esv23961 14 92175903 92176953 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17116 S 451 1 0 RIN3 NA11993 esv1248112 14 92176347 92176551 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971492 S 2 0 1 RIN3 HuRef nsv522954 14 92212287 92230275 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698622 S 2026 0 1 RIN3 nsv1399 14 92217782 92248279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10028 S 9 1 0 LGMN,RIN3 NA18956 nsv456399 14 92221973 92260536 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533728 S 1557 0 1 LGMN,RIN3 1780862306_A nsv827027 14 92222933 92224547 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433177 S 31 1 0 RIN3 NA18972 nsv456400 14 92240746 92288711 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533729 S 1557 0 1 LGMN 1780862300_A nsv521526 14 92261224 92264079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698143 S 2026 0 1 LGMN dgv39e19 14 92302728 92313133 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5563,esv8738 M 1 0 0 "" SJK nsv819955 14 92346202 92346747 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418998 S 2 0 1 GOLGA5 AK1 nsv522417 14 92348050 92360212 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705770 S 2026 1 0 GOLGA5 nsv525680 14 92411759 92412033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701838 S 2026 0 1 "" nsv902200 14 92442123 92505205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530786 S 6533 0 1 CHGA,ITPK1 MS10311 nsv1400 14 92464304 92509147 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5520 S 9 0 1 CHGA,ITPK1 NA19129 nsv902201 14 92464840 92566864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597319,nssv1546851 M 6533 0 2 CHGA,ITPK1 IS40799,MS17208 nsv85624 14 92465393 92465472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104202 M 24 CHGA nsv902202 14 92470632 92477524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510889 S 6533 0 1 CHGA,ITPK1 SP54988 nsv902203 14 92470931 92480465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510074 S 6533 0 1 CHGA,ITPK1 SP54956 nsv456401 14 92476815 92496373 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533730 S 1557 0 1 ITPK1 1780862084_A nsv470657 14 92476815 92496373 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547598 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITPK1 HGDP00491 nsv470656 14 92476815 92593647 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547594,nssv547595,nssv547597,nssv547596 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITPK1 HGDP00313,HGDP00326,HGDP00543,HGDP00661 nsv517691 14 92476815 92672089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692205,nssv677693,nssv658492,nssv692255,nssv691830,nssv684457,nssv677468,nssv672826,nssv691975,nssv699499,nssv656744,nssv669425,nssv692466,nssv666512,nssv686616,nssv679614,nssv654669,nssv672549,nssv675694,nssv668099,nssv674530,nssv661601,nssv664427,nssv654341,nssv692796,nssv705995,nssv662858,nssv681077,nssv666994,nssv674744,nssv693329,nssv660929,nssv690283,nssv700336,nssv662012,nssv668472,nssv679774,nssv660973,nssv664563,nssv675305,nssv656776,nssv656432,nssv652858 M 2026 0 43 ITPK1,ITPK1-AS1 nsv456402 14 92486689 92529612 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533731 S 1557 0 1 ITPK1 NINDS_71 nsv902204 14 92508104 92566864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554977 S 6533 0 1 ITPK1 MS21124 nsv85386 14 92513649 92514885 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103964 M 24 ITPK1 nsv1401 14 92522983 92554904 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9231 S 9 0 1 ITPK1 NA12156 nsv1402 14 92571144 92602894 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10029 S 9 1 0 ITPK1 NA18956 esv29164 14 92594220 92596828 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18446 S 451 4 0 ITPK1 NA06985,NA12044,NA12878,NA18523 nsv827028 14 92649610 92652543 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433178 S 31 1 0 ITPK1 NA18972 esv26978 14 92650978 92652630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11607 S 451 0 3 ITPK1 NA12004,NA12749,NA18861 nsv523445 14 92691173 92710201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699201 S 2026 0 1 "" nsv902205 14 92699712 92754567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585970 S 6533 0 1 C14orf109,C14orf142,MOAP1,UBR7 IS37646 nsv819426 14 92718476 92719370 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419111 S 2 0 1 MOAP1 AK1 nsv827029 14 92722373 92723145 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422154,nssv1429398 M 31 2 0 C14orf109 AK12,NA18997 nsv827032 14 92722412 92722874 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428642 S 31 1 0 C14orf109 AK10 nsv516487 14 92764771 92768756 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678270,nssv668667 M 2026 0 2 UBR7 dgv383n67 14 92782187 92782904 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827034,nsv827033,nsv827035 M 31 21 0 BTBD7 AK12,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18951,NA18968,NA18969,NA18973,NA18999 nsv820783 14 92782187 92782904 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421099 S 1 1 0 BTBD7 NA10851 nsv820297 14 92782241 92782929 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419056 S 2 0 1 BTBD7 AK1 esv26222 14 92782265 92782904 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20036 S 451 0 6 BTBD7 NA11894,NA12006,NA12749,NA15510,NA18909,NA19114 nsv518613 14 92801576 92816315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696059 S 2026 0 1 BTBD7 esv267993 14 92900649 92900998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514080,essv2515354,essv2515639,essv2518044,essv2516152,essv2514393,essv2517570,essv2516186,essv2516890,essv2515216,essv2518412 M 157 11 0 Samples from several populations that are part of the HapMap project. UNC79 NA12043,NA12249,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA19238,NA19240 esv274066 14 92900654 92900995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581751,essv2582321,essv2583148,essv2584361,essv2583745 M 7 5 0 Samples from several populations that are part of the HapMap project. UNC79 NA12878,NA12891,NA12892,NA19238,NA19240 nsv1403 14 92904344 92937896 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5521 S 9 1 0 UNC79 NA19129 nsv442355 14 92909950 92924155 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 UNC79 esv2614792 14 92936082 92937087 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170966 S 1 1 0 UNC79 NA18507 esv274235 14 92936439 92936703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579322,essv2579430 M 7 2 0 Samples from several populations that are part of the HapMap project. UNC79 NA19239,NA19240 esv2443272 14 92995684 92996636 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376764 S 1 0 0 UNC79 NA18507 esv1414204 14 93113116 93113166 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102058 S 2 0 1 UNC79 HuRef nsv1404 14 93206084 93239585 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9233 S 9 1 0 UNC79 NA12156 esv5239 14 93258092 93258583 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27680 S 1 0 1 Single Asian sample YH PRIMA1 YH esv259873 14 93258659 93258985 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395282,essv2395622,essv2394619,essv2398335,essv2399518,essv2396437 M 144 0 0 Samples from several populations that are part of the HapMap project. PRIMA1 NA11918,NA18501,NA18870,NA19093,NA19137,NA19138 esv1465773 14 93258881 93258881 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737016 S 2 1 0 PRIMA1 HuRef nsv524311 14 93278283 93287901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700213 S 2026 0 1 PRIMA1 nsv832861 14 93304796 93472168 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451133 S 95 0 1 ASB2,C14orf86,FAM181A,PRIMA1 esv994901 14 93305091 93305146 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580200 S 3 0 1 PRIMA1 HuRef esv1051201 14 93305094 93305150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017952 S 2 0 1 PRIMA1 HuRef nsv470658 14 93308106 93360121 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547599 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRIMA1 HGDP00983 nsv525404 14 93375920 93397227 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701528 S 2026 1 0 "" dgv654e1 14 93382087 93414055 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9478,esv1349 M 271 0 0 "" NA19154 essv8269 14 93383563 93400847 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19153 nsv456403 14 93408486 93425558 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533732 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00857 esv2184378 14 93430124 93430577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610311 S 1 0 1 "" NA18507 nsv902206 14 93440170 93467566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539736 S 6533 0 1 C14orf86,FAM181A MS14485 nsv521206 14 93459698 93461452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697844 S 2026 0 1 C14orf86,FAM181A nsv1405 14 93503180 93537548 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2926 S 9 1 0 ASB2,C14orf48 NA18555 esv27201 14 93523935 93525229 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12019 S 451 2 0 "" NA06985,NA12044 esv34067 14 93560454 93696941 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 DDX24,IFI27,IFI27L1,IFI27L2,OTUB2 nsv470659 14 93690148 93826503 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547600 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPP4R4,SERPINA10 HGDP00983 nsv832862 14 93699417 93910174 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451134,nssv1451135 M 95 2 0 PPP4R4,SERPINA10,SERPINA6 nsv902207 14 93712715 93780889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514466 S 6533 0 1 PPP4R4 SP56004 nsv528649 14 93721286 93805356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705282 S 2026 0 1 PPP4R4 esv8117 14 93759592 93761611 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30558 S 1 0 0 PPP4R4 SJK nsv470662 14 93832632 94334883 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547602,nssv547604,nssv547603 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GSC,SERPINA1,SERPINA11,SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5,SERPINA6,SERPINA9 HGDP00953,HGDP00983 nsv456405 14 93878513 93911295 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533733 S 1557 0 1 "" NINDS_60 nsv832863 14 93884572 94037577 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451136 S 95 1 0 SERPINA1,SERPINA11,SERPINA12,SERPINA9 nsv509545 14 93896246 93936502 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619656 S 4 1 0 SERPINA1 NA10860 nsv1406 14 93897256 93930602 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5522 S 9 1 0 SERPINA1 NA19129 nsv832864 14 93898191 94074240 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451138,nssv1451137 M 95 0 2 SERPINA1,SERPINA11,SERPINA12,SERPINA9 nsv512370 14 93898708 93915010 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624957 S 1 0 1 SERPINA1 1 esv988652 14 93898727 93900396 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564446 S 3 1 0 "" HuRef nsv513750 14 93902474 93916078 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627002 S 1 1 0 SERPINA1 1 esv1421278 14 93944363 93944363 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784662 S 2 1 0 "" HuRef nsv510649 14 93957193 94080604 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622690 S 4 0 1 SERPINA11,SERPINA12,SERPINA9 NA18994 nsv1407 14 93986171 94014003 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10031 S 9 1 0 SERPINA11,SERPINA9 NA18956 dgv655e1 14 94007639 94015670 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv895,essv6501 M 271 0 0 SERPINA9 NA18572 nsv832865 14 94035547 94203984 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451140 S 95 1 0 SERPINA12,SERPINA13,SERPINA3,SERPINA4,SERPINA5 esv995926 14 94055020 94055025 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577740 S 3 1 0 "" HuRef esv1663407 14 94055105 94055105 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086412 S 2 1 0 "" HuRef nsv1408 14 94062221 94073162 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4635 S 9 0 1 "" NA19129 esv272227 14 94094329 94094457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580745 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271359 14 94094341 94094607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558094,essv2540961,essv2542427,essv2522802,essv2570948,essv2545525,essv2570697,essv2550845,essv2554062,essv2552003,essv2564781,essv2519987,essv2561853,essv2546934,essv2540197,essv2556843,essv2569379,essv2578801,essv2558939,essv2538951,essv2562890,essv2541216,essv2561290,essv2522241,essv2565984,essv2531234,essv2527876,essv2562328,essv2539353,essv2578135,essv2566370,essv2527583,essv2556114,essv2522493,essv2572087,essv2575073,essv2538725,essv2560920,essv2574848,essv2560326,essv2571240,essv2546093,essv2551327,essv2549062,essv2533105,essv2547706,essv2524863 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA07357,NA10851,NA11831,NA11919,NA11931,NA11993,NA12003,NA12044,NA12155,NA12287,NA12489,NA12751,NA12815,NA12874,NA12892,NA18489,NA18501,NA18508,NA18510,NA18516,NA18519,NA18532,NA18545,NA18562,NA18571,NA18572,NA18573,NA18907,NA18909,NA18912,NA18940,NA18948,NA18952,NA18956,NA18960,NA18973,NA19102,NA19108,NA19137,NA19138,NA19190,NA19238,NA19239,NA19257 nsv85460 14 94094359 94094359 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104038 M 24 "" nsv84734 14 94186950 94187007 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103312 M 24 "" nsv516142 14 94221738 94222866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667314,nssv666450,nssv689172 M 2026 3 0 "" nsv902208 14 94263311 94323536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523389 S 6533 1 0 GSC SP53999 esv33915 14 94332705 94333168 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94312 S 51 0 1 "" 21808 nsv84807 14 94433117 94433117 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103385 M 24 "" esv1010495 14 94433139 94433139 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575442 S 3 1 0 "" HuRef esv1537071 14 94433177 94433177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044273 S 2 1 0 "" HuRef esv1005124 14 94448695 94452770 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563768 S 3 0 1 "" HuRef esv275495 14 94450821 94455260 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585714,essv2585888 M 1250 1 1 "" esv1090317 14 94474662 94474828 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901790 S 2 0 0 "" HuRef nsv85463 14 94476163 94476163 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104041 M 24 "" esv2629471 14 94483943 94488753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222333 S 1 0 1 "" NA18507 esv23938 14 94485847 94489828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19562 S 451 0 1 "" NA18916 nsv456408 14 94512034 94565344 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533735 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00645 nsv84515 14 94638002 94644051 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103093 M 24 DICER1 nsv902209 14 94710082 94729995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502910 S 6533 1 0 CLMN,FLJ45244 SP51449 nsv528121 14 94742696 94748091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704664 S 2026 0 1 CLMN nsv1412 14 94763060 94764578 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10032 S 9 1 0 CLMN NA18956 esv2250778 14 94781119 94781557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700790 S 1 0 1 CLMN NA18507 esv270427 14 94805990 94806259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506238,essv2498393,essv2499735 M 157 3 0 Samples from several populations that are part of the HapMap project. CLMN NA18523,NA18858,NA19225 dgv89e55 14 94828312 95211348 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751289,esv2751290 M 771 2 0 C14orf49,CLMN,GLRX5,LINC00341,SCARNA13,SNHG10,TCL6 BEC_632,BEC_701 dgv384n67 14 94854477 94857302 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827037,nsv827036 M 31 2 0 CLMN AK4,NA18972 nsv518870 14 94888106 94893951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696326 S 2026 0 1 "" nsv84436 14 94902478 94902537 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103014 M 24 "" esv1266614 14 94911314 94911439 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812447 S 2 0 1 "" HuRef esv2531934 14 94955731 94956207 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218745 S 1 1 0 C14orf49 NA18507 esv2070721 14 94959435 94959797 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596180 S 1 0 1 C14orf49 NA18507 nsv525357 14 94990135 94991494 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701476 S 2026 1 0 C14orf49 nsv85307 14 95009703 95009703 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103885 M 24 C14orf49 nsv902210 14 95010202 95053728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546852 S 6533 0 1 C14orf49 MS17208 esv2621616 14 95118458 95119245 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184870 S 1 1 0 "" NA18507 esv29389 14 95150915 95152447 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17569 S 451 0 3 "" NA11894,NA12004,NA19190 esv25302 14 95153980 95158123 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12050 S 451 0 1 "" NA18916 esv1005485 14 95157332 95158636 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586925 S 3 1 0 "" HuRef nsv456410 14 95168460 95194270 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533736 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TCL6 HGDP00774 nsv1413 14 95322240 95367327 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9234 S 9 0 1 "" NA12156 esv2029060 14 95323499 95323908 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922334 S 1 0 1 "" NA18507 nsv522067 14 95341718 95354839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694838 S 2026 0 1 "" nsv509547 14 95362837 95446143 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619657 S 4 1 0 LOC100507043 NA10860 nsv1414 14 95399721 95433303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9235 S 9 1 0 LOC100507043 NA12156 esv2031133 14 95463629 95464121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887689 S 1 0 1 "" NA18507 esv1023249 14 95463816 95464014 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021680 S 2 0 1 "" HuRef nsv817643 14 95515268 95518120 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417355 S 112 0 1 "" NA18612 nsv832866 14 95526524 95682237 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451141 S 95 1 0 C14orf132 nsv1415 14 95573313 95588519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9236 S 9 1 0 C14orf132 NA12156 esv24297 14 95597069 95605443 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16608 S 451 0 1 C14orf132 NA19190 nsv520884 14 95597354 95602064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680855,nssv676984 M 2026 0 2 C14orf132 nsv527825 14 95713272 95714790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704321 S 2026 0 1 "" nsv456411 14 95714790 95729426 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533737 S 1557 0 1 "" 1780854392_A nsv1416 14 95753539 95788861 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1218 S 9 1 0 BDKRB2 NA19240 nsv515629 14 95753951 95758422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664161,nssv659713,nssv678093,nssv669173,nssv673601,nssv674250,nssv686867,nssv657771,nssv667265,nssv672617,nssv662318,nssv668421 M 2026 0 12 BDKRB2 dgv262n27 14 95755457 95758422 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456413,nsv456412 M 1557 0 2 BDKRB2 HGDP00694,HGDP00930 esv1004672 14 95771336 95771895 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565199 S 3 1 0 BDKRB2 HuRef esv274957 14 95780870 95782377 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586127,essv2585155 M 1250 1 1 "" esv28071 14 95901099 95902404 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18299 S 451 0 1 "" NA11894 nsv902211 14 95934062 96055906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528309 S 6533 0 1 AK7,PAPOLA SP81191 nsv510389 14 95952834 95958834 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621418 S 4 0 1 AK7 NA15510 nsv470663 14 96162556 96197184 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547605 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00302 esv273832 14 96221571 96221862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581854,essv2582283 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv268890 14 96221576 96221865 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565641,essv2556736,essv2553810,essv2537563,essv2528457,essv2533078,essv2554342 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA11829,NA11994,NA12763,NA12878,NA12891 nsv512371 14 96243212 96245776 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624958 S 1 0 1 "" 1 esv2582719 14 96244144 96245956 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247729 S 1 0 1 "" NA18507 nsv85589 14 96244958 96245207 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104167 M 24 "" dgv4e22 14 96244980 96245160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array esv1162487,esv1714519 M 2 0 1 "" HuRef esv27990 14 96244997 96245562 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11942 S 451 12 0 "" NA11894,NA11931,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12828,NA18505,NA18861,NA19190 esv1357263 14 96245253 96245346 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120647 S 2 0 1 "" HuRef nsv85164 14 96277217 96279452 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103742 M 24 "" esv1000930 14 96281797 96281870 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571212 S 3 0 1 "" HuRef esv1334862 14 96281804 96281878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058625 S 2 0 1 "" HuRef nsv84690 14 96282592 96282653 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103268 M 24 "" esv1001091 14 96282615 96282675 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566232 S 3 0 1 "" HuRef esv1234812 14 96282615 96282676 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887399 S 2 0 1 "" HuRef nsv84645 14 96282616 96282676 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103223 M 24 "" nsv527405 14 96286186 96289804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703841 S 2026 0 1 "" nsv510650 14 96308242 96394974 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618922 S 4 0 1 VRK1 NA10860 esv260042 14 96354066 96354547 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400637,essv2395029,essv2397932,essv2394817 M 144 0 0 Samples from several populations that are part of the HapMap project. VRK1 NA18510,NA18519,NA18907,NA19114 nsv832867 14 96435672 96611516 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451142 S 95 1 0 "" esv1960969 14 96459760 96460196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829572 S 1 0 1 "" NA18507 nsv902212 14 96482785 96544661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533648 S 6533 0 1 "" MS11249 esv988078 14 96491335 96500449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565055 S 3 0 1 "" HuRef nsv1417 14 96506662 96540690 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9237 S 9 1 0 "" NA12156 nsv85840 14 96511774 96511774 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104418 M 24 "" nsv456414 14 96586066 96620589 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533740 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00884 nsv817644 14 96593498 96607368 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415701 S 112 1 0 "" NA12248 nsv902213 14 96706950 96851587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558722 S 6533 0 1 "" MS23495 nsv902214 14 96713490 96934613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556275 S 6533 0 1 "" MS21868 esv2557374 14 96777151 96778566 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197275 S 1 0 1 "" NA18507 esv23848 14 96873443 96874235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14656 S 451 0 2 "" NA12287,NA18858 nsv470664 14 96877218 96900534 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547606 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00983 nsv456415 14 96924532 96971174 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533741 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00802 nsv1418 14 96935521 96980943 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6609 S 9 0 1 "" NA12156 nsv1419 14 97011706 97056452 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9238 S 9 0 1 "" NA12156 nsv470665 14 97043064 97174612 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547607 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100129345 HGDP00983 nsv528098 14 97177131 97180171 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704638 S 2026 1 0 LOC100129345 nsv521281 14 97180091 97180171 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693257,nssv692345 M 2026 0 2 LOC100129345 dgv656e1 14 97199755 97224576 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15930,essv10175,esv1136 M 271 0 0 LOC100129345 NA18515,NA18516 nsv515499 14 97201697 97207855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658226,nssv665260,nssv672892,nssv680040,nssv660304,nssv653329,nssv661673 M 2026 0 7 LOC100129345 nsv436190 14 97219348 97226154 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466769 S 2 0 1 Samples from several populations that are part of the HapMap project. LOC100129345 NA18505 nsv9166 14 97222111 97226746 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25353 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC100129345 NA18860 esv22668 14 97223006 97225787 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17641 S 451 0 3 "" NA12776,NA18505,NA18858 nsv522070 14 97227735 97228937 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694842 S 2026 0 1 "" nsv507766 14 97286241 97292241 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619134,nssv620574,nssv617892 M 4 3 0 "" CHM,NA10860,NA15510 esv29622 14 97290686 97292884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19086 S 451 0 3 "" NA18508,NA18909,NA19225 nsv523043 14 97309282 97343102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698726 S 2026 0 1 "" nsv513418 14 97323273 97324867 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625816 S 1 1 0 "" 1 esv1684450 14 97323946 97323946 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836498 S 2 1 0 "" HuRef nsv832868 14 97333804 97484704 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451143,nssv1451147,nssv1451145,nssv1451146,nssv1451144 M 95 4 1 C14orf64 esv271622 14 97564111 97564446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558227,essv2565776,essv2576121,essv2540782,essv2571617,essv2546242,essv2521371,essv2525987,essv2542345,essv2543813,essv2568278,essv2545587,essv2523186,essv2531966,essv2577463,essv2548275,essv2521618,essv2576784,essv2550612,essv2553929,essv2544431,essv2551972,essv2520510,essv2547448,essv2558623,essv2577988,essv2553866,essv2565365,essv2576435,essv2519928,essv2564257,essv2554865,essv2530639,essv2562086,essv2537422,essv2547037,essv2551812,essv2532396,essv2537023,essv2562998,essv2541247,essv2542611,essv2522269,essv2531175,essv2541570,essv2570310,essv2553368,essv2550868,essv2556361,essv2528019,essv2533965,essv2578117,essv2533490,essv2574019,essv2534274,essv2573495,essv2571972,essv2525549,essv2526858,essv2575242,essv2574900,essv2530199,essv2568456,essv2548058,essv2545924,essv2574171,essv2536146,essv2538025,essv2549008,essv2533016,essv2554745,essv2547922,essv2525107 M 157 73 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11992,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12892,NA18504,NA18505,NA18517,NA18532,NA18545,NA18550,NA18571,NA18573,NA18592,NA18593,NA18605,NA18858,NA18871,NA18907,NA18916,NA18940,NA18944,NA18951,NA18959,NA18964,NA18973,NA18980,NA19005,NA19102,NA19138,NA19141,NA19147,NA19210,NA19239,NA19240 esv272378 14 97564113 97564446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581775,essv2583162,essv2584477,essv2583518 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 nsv526944 14 97578332 97582496 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703314 S 2026 1 0 "" nsv527930 14 97578332 97587915 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704437 S 2026 0 1 "" esv32863 14 97601336 97605649 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99492 S 51 1 0 "" 22335 esv274943 14 97706998 97710429 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585770 S 1250 0 1 "" dgv40n6 14 97732325 97732477 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv85232,nsv85581 M 24 "" esv26612 14 97814331 97815438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12534 S 451 0 4 "" NA11993,NA15510,NA18508,NA19190 esv1010216 14 97852067 97861656 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564329 S 3 0 1 "" HuRef nsv512372 14 97852955 97854835 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624959 S 1 0 1 "" 1 esv1957853 14 97853549 97855065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905297 S 1 0 1 "" NA18507 esv28268 14 97881525 97886609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15352,esv15763,esv11402 M 451 0 3 "" NA19099,NA19108,NA19240 esv269297 14 97887610 97887796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510204,essv2502868,essv2496265,essv2498564,essv2495546,essv2503164,essv2503549,essv2505632,essv2506714,essv2499184,essv2499813 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12156,NA18511,NA18858,NA18916,NA18943,NA18947,NA19005,NA19108,NA19114,NA19225 esv275238 14 97944343 97953287 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585955 S 1250 0 1 "" esv259696 14 98004096 98005047 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395238,essv2398554,essv2398039 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18516,NA19147 nsv902215 14 98013715 98104529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507028 S 6533 0 1 "" SP54456 esv25326 14 98104507 98127085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17997 S 451 0 1 "" NA19108 nsv456416 14 98104529 98123717 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533742 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00470 nsv516295 14 98104529 98123717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686157,nssv654567,nssv682594,nssv669744,nssv684273,nssv667396,nssv678094,nssv657580,nssv659525,nssv690393,nssv686946,nssv654472 M 2026 0 12 "" esv1219902 14 98214862 98214862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301571 S 2 1 0 "" HuRef nsv456417 14 98239983 98271959 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533743 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C14orf177 HGDP01169 nsv516436 14 98246921 98263340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658574,nssv657713,nssv692256,nssv663540,nssv668348,nssv690936,nssv690756,nssv659894,nssv673823,nssv675929 M 2026 0 10 C14orf177 esv28630 14 98254841 98256021 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20909 S 451 0 1 "" NA12489 nsv516889 14 98271328 98273557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679112,nssv654723 M 2026 0 2 "" nsv902216 14 98350237 98396669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577468 S 6533 0 1 "" IS34468 nsv516383 14 98353043 98364251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685662,nssv667937 M 2026 0 2 "" nsv519702 14 98393765 98406840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672618,nssv657659 M 2026 0 2 "" nsv456419 14 98418104 98454491 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533745 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00134 nsv528227 14 98422329 98453017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704789 S 2026 0 1 "" nsv456420 14 98422998 98445074 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533746 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00721 nsv527246 14 98537430 98537686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703648 S 2026 0 1 "" nsv1420 14 98565251 98598813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9239 S 9 1 0 "" NA12156 nsv819231 14 98569962 98576851 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419797 S 2 1 0 "" AK1 nsv827038 14 98572986 98575243 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439272,nssv1441481,nssv1436168,nssv1427835,nssv1423747,nssv1438443,nssv1422155,nssv1433180,nssv1432401,nssv1437754,nssv1435951,nssv1429400,nssv1430025,nssv1437017,nssv1425321,nssv1439961,nssv1440649,nssv1435403,nssv1426124,nssv1430909,nssv1427047,nssv1422937,nssv1434706 M 31 0 23 "" AK12,AK16,AK2,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 esv22932 14 98573613 98575054 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18602 S 451 19 0 "" NA07045,NA11894,NA11931,NA11995,NA12006,NA12156,NA12239,NA12489,NA12749,NA12828,NA15510,NA18517,NA18861,NA18909,NA19099,NA19114,NA19147,NA19190,NA19240 nsv821577 14 98573613 98575243 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421100 S 1 0 1 "" NA10851 nsv519807 14 98591186 98591548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658818,nssv662983,nssv678724 M 2026 0 3 "" dgv657e1 14 98604476 98636221 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13267,esv1182 M 271 0 0 "" NA19201 esv26802 14 98642620 98650285 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15615 S 451 0 1 "" NA19190 nsv521105 14 98645144 98645462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689575,nssv682344 M 2026 0 2 "" nsv827039 14 98704463 98718762 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427048 S 31 1 0 BCL11B AK6 nsv827040 14 98705344 98730131 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437755 S 31 1 0 BCL11B NA18949 dgv385n67 14 98707280 98708855 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827043,nsv827041 M 31 2 0 BCL11B NA18552,NA18997 dgv386n67 14 98707300 98708461 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827045,nsv827044,nsv827046 M 31 3 0 BCL11B NA18537,NA18969,NA18999 dgv387n67 14 98707436 98714243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827047,nsv827048 M 31 2 0 BCL11B NA18947,NA18972 esv23236 14 98710289 98712045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16794 S 451 0 1 BCL11B NA07045 esv275067 14 98718832 98719495 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585512,essv2585322 M 1250 1 1 BCL11B nsv470666 14 98728995 98746881 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547608 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BCL11B HGDP00983 nsv832871 14 98751747 98979708 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451148 S 95 1 0 BCL11B,SETD3 nsv832872 14 98752687 98953703 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451149 S 95 0 1 BCL11B,SETD3 nsv528741 14 98784510 98788972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705399 S 2026 0 1 BCL11B nsv827049 14 98805176 98811912 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433182 S 31 1 0 BCL11B NA18972 nsv1421 14 98849905 98884625 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1219 S 9 1 0 "" NA19240 nsv902217 14 98871862 98937280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554299 S 6533 0 1 SETD3 MS20710 nsv527480 14 98882330 98898529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703925 S 2026 0 1 "" esv997017 14 99007224 99024812 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563556 S 3 0 0 CCNK,SETD3 HuRef dgv1977n71 14 99031583 99145209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902218,nsv902219 M 6533 0 2 CCDC85C,CCNK MS13770,MS16153 esv2227205 14 99056389 99056803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598466 S 1 0 1 CCDC85C NA18507 nsv85788 14 99056673 99056733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104366 M 24 CCDC85C nsv456422 14 99058799 99110135 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533747 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC85C HGDP00706 nsv456423 14 99085798 99095928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533748 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC85C HGDP00708 nsv902220 14 99112114 99148653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510075 S 6533 0 1 CCDC85C SP54956 dgv1978n71 14 99112114 99235981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902221,nsv902222 M 6533 0 3 CCDC85C,CYP46A1,HHIPL1 IS33684,IS37646,IS39233 nsv827050 14 99135584 99144927 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427049 S 31 1 0 CCDC85C AK6 nsv827051 14 99138851 99141596 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433183 S 31 1 0 CCDC85C NA18972 esv23792 14 99139146 99140678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12661 S 451 0 2 CCDC85C NA07045,NA12004 nsv519710 14 99153071 99219255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674161,nssv699972,nssv661143,nssv681461,nssv684824,nssv657762 M 2026 0 6 HHIPL1 nsv902223 14 99174587 99225890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510076 S 6533 0 1 CYP46A1,HHIPL1 SP54956 nsv902224 14 99185361 99219211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511484 S 6533 0 1 HHIPL1 SP55021 nsv470667 14 99194401 99278743 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547609 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP46A1,HHIPL1 HGDP00978 nsv1423 14 99228638 99248049 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9240 S 9 0 1 CYP46A1 NA12156 esv23688 14 99329145 99329805 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21081 S 451 0 2 EML1 NA07045,NA12004 esv29292 14 99347450 99348661 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10611 S 451 0 1 EML1 NA12006 nsv832873 14 99356742 99533327 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451151 S 95 1 0 EML1 nsv520997 14 99374819 99378672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697728 S 2026 0 1 EML1 nsv456426 14 99421578 99475510 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533749 S 1557 1 0 EML1 1780862077_A nsv527865 14 99450701 99502658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704363 S 2026 0 1 EML1 nsv524048 14 99452945 99475510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699912 S 2026 0 1 EML1 nsv524475 14 99456337 99490749 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700413 S 2026 0 1 EML1 esv259507 14 99459551 99459830 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394117,essv2393751,essv2394008,essv2394337 M 6 0 0 Samples from several populations that are part of the HapMap project. EML1 NA12878,NA19238,NA19239,NA19240 esv2605680 14 99459558 99460468 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334322 S 1 1 0 EML1 NA18507 esv259967 14 99459560 99459839 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396666,essv2397365,essv2395251,essv2395631,essv2396141,essv2399423,essv2394628,essv2397939,essv2398391,essv2396399,essv2399678,essv2395942,essv2397090,essv2400490 M 144 0 0 Samples from several populations that are part of the HapMap project. EML1 NA12414,NA12878,NA18499,NA18501,NA18523,NA18858,NA18870,NA18907,NA19093,NA19138,NA19210,NA19238,NA19239,NA19240 esv2435902 14 99463622 99464545 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216098 S 1 1 0 EML1 NA18507 nsv513419 14 99464034 99464404 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625817 S 1 1 0 EML1 1 esv2415296 14 99485301 99485632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687534 S 1 0 1 "" NA18507 esv1410796 14 99485479 99485581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144374 S 2 0 1 "" HuRef esv2436035 14 99488919 99489251 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269680 S 1 1 0 "" NA18507 esv272313 14 99492347 99492697 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579006 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268990 14 99492356 99492441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519146,essv2518910 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19239 nsv84672 14 99492389 99492389 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103250 M 24 "" esv23401 14 99497547 99498991 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9906 S 451 0 4 "" NA18523,NA18858,NA18909,NA19099 nsv528563 14 99587578 99592280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705179 S 2026 0 1 "" dgv142n21 14 99587578 99602955 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527606,nsv518128 M 2026 0 2 EVL nsv832874 14 99604560 99754597 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451152 S 95 0 1 DEGS2,EVL,MIR342 nsv527130 14 99642707 99715634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703516 S 2026 0 1 DEGS2,EVL,MIR342 nsv526793 14 99677113 99684788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703146 S 2026 0 1 DEGS2,EVL nsv902225 14 99677113 99691231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500198 S 6533 0 1 DEGS2,EVL SP50159 nsv524413 14 99677113 99707988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700337 S 2026 0 1 DEGS2,EVL nsv902226 14 99677113 99858730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580898 S 6533 0 1 DEGS2,EVL,MIR345,SLC25A29,YY1 IS35484 esv1000926 14 99683562 99691116 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564575 S 3 0 1 DEGS2 HuRef nsv832875 14 99728682 99904995 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451153 S 95 0 1 MIR345,SLC25A29,SLC25A47,WARS,YY1 esv990695 14 99750215 99756866 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564888 S 3 0 1 "" HuRef nsv827052 14 99773555 99777816 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433184 S 31 1 0 YY1 NA18972 esv22463 14 99774254 99776776 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11253 S 451 0 1 YY1 NA07045 nsv827054 14 99813838 99814699 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422939 S 31 1 0 YY1 NA18552 dgv1979n71 14 99820388 99838916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902227,nsv902228 M 6533 0 2 SLC25A29 SP54956,SP55021 nsv902229 14 99820388 99849792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510890 S 6533 0 1 MIR345,SLC25A29 SP54988 nsv902230 14 99825192 99834140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508171,nssv1506041,nssv1507807 M 6533 0 3 SLC25A29 SP54043,SP54684,SP54725 esv34023 14 99884899 100220765 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BEGAIN,C14orf70,WARS,WDR25 esv1950925 14 99914560 99915302 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918467 S 1 0 1 WDR25 NA18507 esv1006795 14 99914756 99915088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581052 S 3 0 1 WDR25 HuRef esv9060 14 99914764 99915085 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31501 S 1 0 1 WDR25 SJK esv1625148 14 99914767 99915100 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197601 S 2 0 1 WDR25 HuRef nsv819726 14 99998162 100000693 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419441 S 2 0 1 WDR25 AK1 nsv521690 14 100001096 100270398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694473 S 2026 0 1 BEGAIN,C14orf70,DLK1,WDR25 dgv1980n71 14 100018009 100179505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902231,nsv902233 M 6533 0 2 BEGAIN,WDR25 MS10311,MS18276 nsv902232 14 100057984 100136409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510078 S 6533 0 1 BEGAIN,WDR25 SP54956 nsv509548 14 100058083 100172558 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619658 S 4 1 0 BEGAIN,WDR25 NA10860 esv1346244 14 100063032 100063032 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708158 S 2 1 0 WDR25 HuRef nsv456427 14 100063798 100153711 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533750 S 1557 0 1 BEGAIN,WDR25 NINDS_61 nsv902234 14 100069036 100123782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510891 S 6533 0 1 BEGAIN SP54988 dgv1981n71 14 100069601 100108213 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902236,nsv902235 M 6533 0 2 BEGAIN SP50159,SP54672 esv1740531 14 100082443 100082545 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714730 S 2 0 1 BEGAIN HuRef esv993981 14 100092609 100101953 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565763 S 3 0 1 BEGAIN HuRef esv2751158 14 100138042 100389000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988425,essv6981596,essv6981595,essv6981594,essv6981593 M 771 1 0 C14orf70,DLK1,MEG3,MIR2392,MIR770 BEC_303 nsv525723 14 100170339 100273988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701887 S 2026 0 1 C14orf70,DLK1 nsv1424 14 100177043 100211631 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2927 S 9 1 0 C14orf70 NA18555 esv7738 14 100188337 100188435 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30179 S 1 1 0 "" SJK nsv832876 14 100210923 100389009 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451155,nssv1451154 M 95 0 2 DLK1,MEG3,MIR2392,MIR770 nsv456428 14 100214819 100264314 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533751 S 1557 0 1 DLK1 NINDS_33 nsv518619 14 100214932 100217801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696067 S 2026 0 1 "" nsv511532 14 100219264 100223825 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626154 S 1 0 1 "" 1 esv26889 14 100221725 100223005 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19964 S 451 12 0 "" NA11894,NA12156,NA12828,NA12878,NA18505,NA18508,NA18517,NA18916,NA19108,NA19114,NA19190,NA19225 esv2077087 14 100241754 100242196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807734 S 1 0 1 "" NA18507 nsv470668 14 100251358 100270398 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547610 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DLK1 HGDP00543 nsv1425 14 100264813 100298541 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5523 S 9 1 0 DLK1 NA19129 esv992587 14 100272512 100273286 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587070 S 3 0 1 "" HuRef nsv518066 14 100282461 100287994 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695477 S 2026 0 1 "" nsv902237 14 100302999 100389787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543651 S 6533 0 1 MEG3,MIR2392,MIR770 MS16153 nsv470669 14 100313137 100373114 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547611 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MEG3,MIR2392 HGDP00978 dgv1982n71 14 100321742 100382846 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902238,nsv902239 M 6533 0 3 MEG3,MIR2392 IS32322,IS39233,MS10311 nsv902240 14 100321742 100425763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549861 S 6533 0 1 MEG3,MIR127,MIR136,MIR2392,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1 MS18276 nsv509549 14 100354870 100422926 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619659 S 4 1 0 MEG3,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,MIR770,RTL1 NA10860 nsv827055 14 100382465 100386249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437019 S 31 1 0 MEG3 NA18542 nsv902241 14 100393299 100464694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530789 S 6533 0 1 MEG3,MEG8,MIR127,MIR136,MIR337,MIR431,MIR432,MIR433,MIR493,MIR665,RTL1,SNORD112,SNORD113-1,SNORD113-2 MS10311 esv2456141 14 100404890 100407045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277194 S 1 0 1 MIR493 NA18507 nsv512373 14 100405275 100407462 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624960 S 1 0 1 "" 1 esv1336053 14 100405336 100406378 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675099 S 2 0 1 "" HuRef esv1002231 14 100408073 100412232 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563710 S 3 1 0 MIR337,MIR665 HuRef esv1689569 14 100409545 100409545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653876 S 2 1 0 "" HuRef esv270374 14 100457127 100458168 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497205,essv2512305,essv2497413,essv2495172,essv2502744 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18949,NA18959,NA18964,NA18965 nsv509550 14 100484778 100504493 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619660 S 4 1 0 SNORD114-1,SNORD114-10,SNORD114-11,SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-8,SNORD114-9 NA10860 esv1005413 14 100493428 100496443 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563527 S 3 1 0 "" HuRef esv2643800 14 100498153 100499450 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382955 S 1 0 1 SNORD114-7 NA18507 nsv1426 14 100537783 100569601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4131 S 9 1 0 MIR1193,MIR1197,MIR299,MIR323,MIR329-1,MIR329-2,MIR379,MIR380,MIR411,MIR494,MIR543,MIR758 NA12878 nsv85821 14 100546078 100546078 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104399 M 24 "" esv1010704 14 100555846 100557050 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587148 S 3 0 1 "" HuRef esv21973 14 100556296 100557381 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12986 S 451 0 1 "" NA19240 esv272892 14 100556891 100556976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581085 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1920269 14 100574136 100574603 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645949 S 1 0 1 "" NA18507 nsv509551 14 100593446 100671565 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619661 S 4 1 0 MIR154,MIR369,MIR377,MIR409,MIR410,MIR412,MIR496,MIR541,MIR656 NA10860 esv1005601 14 100610525 100619614 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563983 S 3 0 1 "" HuRef nsv902242 14 100627149 100691034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572149 S 6533 0 1 "" IS32888 nsv902243 14 100627149 100743667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543652 S 6533 0 1 "" MS16153 esv8870 14 100653676 100653933 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31311 S 1 0 1 "" SJK nsv85651 14 100666329 100666506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104229 M 24 "" nsv902244 14 100706307 100733088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546853 S 6533 0 1 "" MS17208 nsv84560 14 100708762 100708762 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103138 M 24 "" esv1240352 14 100708889 100708889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598790 S 2 1 0 "" HuRef nsv456430 14 100720305 100749749 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533753 S 1557 0 1 "" 1780862094_A esv2342974 14 100732418 100732901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974857 S 1 0 1 "" NA18507 nsv84388 14 100732616 100732671 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102966 M 24 "" esv1011280 14 100732635 100732690 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574655 S 3 0 1 "" HuRef nsv85734 14 100732676 100732731 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104312 M 24 "" nsv902245 14 100733088 100767175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559126 S 6533 0 1 "" MS23720 nsv902246 14 100761050 100790422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530790,nssv1549862 M 6533 0 2 "" MS10311,MS18276 nsv902247 14 100761050 100813273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543653 S 6533 0 1 "" MS16153 esv1556065 14 100763055 100763055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914680 S 2 1 0 "" HuRef esv26307 14 100780977 100782971 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18603 S 451 0 4 "" NA07037,NA12828,NA18523,NA18909 esv1223434 14 100781805 100782543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273783 S 2 0 1 "" HuRef esv273114 14 100790499 100790796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579085,essv2579787 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv32974 14 100822507 100827081 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99920 S 51 1 0 "" 22086 esv25842 14 100830873 100859763 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16184,esv16776 M 451 1 1 "" NA12239,NA12878 esv1713460 14 100894272 100894272 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330689 S 2 1 0 "" HuRef nsv517359 14 100914862 100929407 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668665,nssv677916,nssv651811,nssv679492,nssv701378,nssv696515 M 2026 5 1 "" esv2618255 14 100956583 100958080 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298892 S 1 0 1 "" NA18507 nsv526792 14 100991643 101001178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703145 S 2026 0 1 "" nsv902248 14 100991643 101011425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546854 S 6533 0 1 "" MS17208 nsv827056 14 100991860 100996711 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427050 S 31 1 0 "" AK6 esv26835 14 100993531 100995736 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17958 S 451 0 1 "" NA12004 dgv1983n71 14 101011425 101069351 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902249,nsv902250 M 6533 0 2 "" IS38403,IS39233 nsv470670 14 101016897 101058804 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547613 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543 nsv902251 14 101022159 101325827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546855 S 6533 0 1 DIO3,DIO3OS,LINC00239,MIR1247,PPP2R5C MS17208 nsv517983 14 101029334 101061259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695396 S 2026 0 1 "" nsv902252 14 101040269 101103563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530791,nssv1549863 M 6533 0 2 DIO3,DIO3OS,MIR1247 MS10311,MS18276 nsv817645 14 101053417 101058804 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417292 S 112 0 1 "" NA18608 esv2310669 14 101060440 101061134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557579 S 1 0 1 "" NA18507 nsv512374 14 101060448 101062475 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624961 S 1 0 1 "" 1 esv9682 14 101060628 101060997 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32123 S 1 0 1 "" SJK nsv902253 14 101075276 101188372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584835 S 6533 0 1 DIO3,DIO3OS,MIR1247 IS37172 dgv388n67 14 101092458 101101710 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827058,nsv827059,nsv827057 M 31 3 0 DIO3,MIR1247 NA18526,NA18947,NA18972 nsv827060 14 101095203 101102533 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427053 S 31 1 0 DIO3,MIR1247 AK6 nsv827061 14 101096398 101097544 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433188 S 31 1 0 DIO3,MIR1247 NA18972 esv29376 14 101096460 101097295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20338 S 451 0 1 MIR1247 NA12239 nsv511538 14 101227526 101253112 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626161 S 1 0 1 "" 1 esv22471 14 101247897 101249857 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18306 S 451 2 0 "" NA11894,NA12878 nsv512375 14 101317778 101319442 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624962 S 1 0 1 PPP2R5C 1 nsv518045 14 101372660 101377133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695456 S 2026 0 1 PPP2R5C nsv902254 14 101412926 101515914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530792 S 6533 0 1 DYNC1H1,PPP2R5C MS10311 esv2565595 14 101420979 101421818 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177938 S 1 1 0 PPP2R5C NA18507 nsv84885 14 101459896 101460017 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103463 M 24 PPP2R5C dgv25n68 14 101537083 101731612 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832877,nsv832878 M 95 0 2 DYNC1H1,HSP90AA1,WDR20 nsv1427 14 101550327 101584469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9241 S 9 1 0 DYNC1H1 NA12156 nsv832879 14 101551827 101619069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451158 S 95 0 1 DYNC1H1,HSP90AA1 esv5584 14 101593159 101593402 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28025 S 1 0 1 "" SJK nsv1428 14 101604950 101638446 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9243 S 9 1 0 HSP90AA1 NA12156 esv25342 14 101642931 101644131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10140 S 451 0 1 HSP90AA1 NA18861 nsv512376 14 101706707 101709596 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624963 S 1 0 1 WDR20 1 nsv819548 14 101730003 101731717 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419310 S 2 0 1 WDR20 AK1 nsv1429 14 101737162 101782674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6610 S 9 0 1 MOK,WDR20 NA12156 esv22037 14 101759316 101785045 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20455,esv17464 M 451 2 0 MOK,WDR20 NA12828,NA12878 nsv827062 14 101853447 101862054 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427054 S 31 1 0 ZNF839 AK6 nsv827063 14 101853450 101854323 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431628 S 31 1 0 "" AK18 esv29657 14 101853611 101860307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9993 S 451 1 0 ZNF839 NA18523 esv5763 14 101959976 101960066 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28204 S 1 1 0 TECPR2 SJK nsv832880 14 101967513 102146626 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451162,nssv1451160,nssv1451159,nssv1451163 M 95 0 4 ANKRD9,MIR4309,RCOR1,TECPR2 nsv470671 14 102003100 102101584 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547615,nssv547614,nssv547616 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD9,MIR4309,TECPR2 HGDP00576,HGDP00615,HGDP00628 dgv263n27 14 102003100 102140598 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456434,nsv456432,nsv456433 M 1557 3 0 ANKRD9,MIR4309,RCOR1,TECPR2 HGDP00576,HGDP00615,HGDP00628 nsv902255 14 102003100 102166739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571926 S 6533 0 1 ANKRD9,MIR4309,RCOR1,TECPR2 IS32841 esv23885 14 102020212 102020737 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15413 S 451 3 0 TECPR2 NA18907,NA19108,NA19114 nsv522878 14 102022696 102071579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698533 S 2026 0 1 ANKRD9,TECPR2 dgv1984n71 14 102035650 102059855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902257,nsv902256 M 6533 0 4 ANKRD9,TECPR2 SP51109,SP54593,SP54725,SP54967 nsv1430 14 102132449 102139529 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6612 S 9 1 0 RCOR1 NA12156 nsv7257 14 102139004 102165924 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6613,nssv5524 M 9 0 0 RCOR1 NA12156,NA19129 nsv516226 14 102167665 102170135 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667822,nssv666941,nssv661405,nssv672807 M 2026 0 4 RCOR1 nsv512377 14 102167939 102170123 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624964 S 1 0 1 RCOR1 1 esv26391 14 102177736 102179816 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17853 S 451 0 1 RCOR1 NA18916 esv25323 14 102180748 102182027 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16432 S 451 1 0 RCOR1 NA18909 nsv902258 14 102233208 102369469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587872 S 6533 1 0 RCOR1,TRAF3 IS38126 esv27166 14 102313064 102314359 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14689 S 451 0 3 TRAF3 NA07037,NA07045,NA12004 esv1008810 14 102320834 102331733 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564373 S 3 0 1 TRAF3 HuRef nsv902259 14 102362712 102455911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568174 S 6533 0 1 TRAF3 IS31205 nsv902260 14 102399183 102447074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593970 S 6533 1 0 TRAF3 IS39646 nsv519641 14 102421282 102431770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657314,nssv687721 M 2026 0 2 TRAF3 nsv509552 14 102426371 102492619 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623665 S 4 1 0 AMN,CDC42BPB,TRAF3 NA18994 dgv1985n71 14 102431770 102494607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902261,nsv902262 M 6533 0 3 AMN,CDC42BPB,TRAF3 IS33684,MS10311,MS10769 nsv902263 14 102431770 102512985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573208 S 6533 0 1 AMN,CDC42BPB,TRAF3 IS33248 nsv9167 14 102443486 102468494 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26788 S 31 1 0 Samples from several populations that are part of the HapMap project. AMN,CDC42BPB,TRAF3 NA19221 esv1001250 14 102454316 102458363 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587257 S 3 0 1 "" HuRef esv269754 14 102474475 102474808 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517493 S 157 1 0 Samples from several populations that are part of the HapMap project. CDC42BPB NA11918 nsv832882 14 102506699 102678934 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451164,nssv1451166,nssv1451165 M 95 0 3 CDC42BPB,EXOC3L4,TNFAIP2 nsv85067 14 102534967 102535112 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103645 M 24 CDC42BPB nsv1431 14 102565395 102609618 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5525,nssv2086 M 9 2 0 CDC42BPB NA18555,NA19129 nsv902264 14 102590515 102682945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585972 S 6533 0 1 CDC42BPB,EXOC3L4,TNFAIP2 IS37646 esv1324282 14 102598742 102598742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163130 S 2 1 0 "" HuRef nsv9168 14 102601482 102983059 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20934 S 31 0 1 Samples from several populations that are part of the HapMap project. EIF5,EXOC3L4,LOC100131366,MARK3,SNORA28,TNFAIP2 NA18975 esv27470 14 102616327 102619643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12662 S 451 0 3 "" NA07037,NA12004,NA12776 nsv827065 14 102616356 102619998 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426125 S 31 0 1 "" AK4 dgv1986n71 14 102625250 102682315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902266,nsv902265 M 6533 0 3 EXOC3L4,TNFAIP2 SP54725,SP54956,SP54988 nsv902267 14 102632948 102722787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537133 S 6533 0 1 EXOC3L4,TNFAIP2 MS13095 esv2450303 14 102644937 102646571 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163978 S 1 0 1 EXOC3L4 NA18507 nsv512378 14 102644944 102646397 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624965 S 1 0 1 EXOC3L4 1 esv2116804 14 102645167 102645919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638301 S 1 0 1 EXOC3L4 NA18507 nsv902268 14 102648388 102682315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511486 S 6533 0 1 TNFAIP2 SP55021 nsv827066 14 102650368 102652378 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435404 S 31 0 1 "" NA18942 dgv1987n71 14 102654427 102671405 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902273,nsv902269,nsv902270,nsv902271,nsv902272 M 6533 0 8 TNFAIP2 SP54526,SP54577,SP54884,SP54967,SP55026,SP55279,SP80988,SP81005 dgv1988n71 14 102654427 102676029 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902274,nsv902281 M 6533 0 2 TNFAIP2 SP54593,SP54672 nsv902275 14 102658268 102666241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507664 S 6533 0 1 TNFAIP2 SP54680 nsv902276 14 102658268 102667318 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508188,nssv1506999 M 6533 1 1 TNFAIP2 SP54448,SP54591 dgv1989n71 14 102658268 102669691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902279,nsv902278,nsv902277 M 6533 0 7 TNFAIP2 SP53969,SP54173,SP54776,SP54808,SP54979,SP55056,SP55820 nsv902280 14 102658268 102671405 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512024,nssv1511226,nssv1508412,nssv1516599,nssv1512010,nssv1503574,nssv1509610 M 6533 1 6 TNFAIP2 SP52077,SP54657,SP54892,SP55019,SP55257,SP55264,SP56874 nsv902282 14 102658268 102682315 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508415,nssv1509354 M 6533 1 1 TNFAIP2 SP54614,SP54782 dgv1990n71 14 102660763 102668425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902288,nsv902283,nsv902285 M 6533 0 3 TNFAIP2 SP54935,SP55265,SP57292 nsv902284 14 102660918 102667318 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508527 S 6533 1 0 TNFAIP2 SP54650 nsv902286 14 102660918 102671405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515388 S 6533 1 0 TNFAIP2 SP56173 nsv902287 14 102660918 102682315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507552 S 6533 1 0 TNFAIP2 SP54620 nsv902289 14 102662279 102669783 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499485,nssv1519178,nssv1515641 M 6533 1 2 TNFAIP2 SP50046,SP56231,SP80977 esv2387988 14 102667897 102668346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787035 S 1 0 1 TNFAIP2 NA18507 nsv84629 14 102668074 102668133 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103207 M 24 TNFAIP2 esv995383 14 102668076 102668135 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578681 S 3 0 1 TNFAIP2 HuRef esv1662663 14 102668098 102668158 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178082 S 2 0 1 TNFAIP2 HuRef nsv84480 14 102668099 102668158 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103058 M 24 TNFAIP2 nsv902290 14 102673372 102675378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508275 S 6533 0 1 TNFAIP2 SP54684 esv1124218 14 102681155 102681155 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151434 S 2 1 0 "" HuRef nsv902291 14 102687703 102853350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543654 S 6533 0 1 LOC100131366 MS16153 dgv1991n71 14 102688800 102775595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902292,nsv902294 M 6533 0 2 LOC100131366 IS39233,SP54956 nsv902293 14 102713581 102818031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585973 S 6533 0 1 LOC100131366 IS37646 nsv84809 14 102727933 102728002 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103387 M 24 "" esv29794 14 102729281 102734373 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21226 S 451 0 3 "" NA18505,NA18858,NA19225 esv21701 14 102756583 102759353 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19863 S 451 0 1 "" NA19190 esv1606243 14 102757474 102757474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778489 S 2 1 0 "" HuRef nsv902295 14 102786147 102878225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530794 S 6533 0 1 EIF5,SNORA28 MS10311 nsv902296 14 102793594 102834571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519092 S 6533 0 1 "" SP80953 esv272123 14 102799485 102799723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557216,essv2552564,essv2550129,essv2562512,essv2529827,essv2560539,essv2572808,essv2545106 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18511,NA18909,NA19093,NA19116,NA19143,NA19172 esv2401970 14 102844916 102845307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584213 S 1 0 1 "" NA18507 nsv518132 14 102851569 102853600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694204 S 2026 0 1 "" nsv827067 14 102868122 102872517 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433189 S 31 1 0 EIF5 NA18972 esv2546909 14 102908215 102908404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183732 S 1 0 1 "" NA18507 nsv832883 14 102997440 103190706 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451167 S 95 0 1 APOPT1,BAG5,CKB,KLC1,MARK3,TRMT61A nsv85420 14 103003788 103006149 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103998 M 24 MARK3 nsv525874 14 103007125 103020121 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702074 S 2026 1 0 MARK3 nsv85551 14 103017875 103021341 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104129 M 24 MARK3 dgv1992n71 14 103025935 103143304 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902297,nsv902304,nsv902298,nsv902305,nsv902299 M 6533 0 7 APOPT1,BAG5,CKB,MARK3,TRMT61A IS30764,IS31656,IS33248,IS33684,IS34235,IS41243,MS17208 nsv902300 14 103037257 103275564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580899 S 6533 0 1 APOPT1,BAG5,CKB,KLC1,MARK3,PPP1R13B,TRMT61A,XRCC3,ZFYVE21 IS35484 dgv1993n71 14 103049706 103072847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902306,nsv902307,nsv902301 M 6533 0 6 CKB,TRMT61A SP54043,SP54725,SP54967,SP54988,SP55019,SP55021 dgv1994n71 14 103049706 103104499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902302,nsv902303 M 6533 0 2 APOPT1,BAG5,CKB,TRMT61A IS37172,SP54956 nsv827068 14 103052619 103091100 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432402 S 31 0 1 CKB,TRMT61A AK20 esv29714 14 103057782 103059577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20822 S 451 0 1 CKB NA12004 nsv9170 14 103064013 103087724 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26799 S 31 1 0 Samples from several populations that are part of the HapMap project. TRMT61A NA19221 dgv389n67 14 103097255 103097772 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827069,nsv827070 M 31 2 0 BAG5 NA18542,NA18552 nsv902308 14 103156962 103280933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549864 S 6533 0 1 KLC1,PPP1R13B,XRCC3,ZFYVE21 MS18276 esv2543794 14 103206110 103207997 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289307 S 1 0 1 KLC1 NA18507 esv2001728 14 103206458 103207830 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883228 S 1 0 1 KLC1 NA18507 dgv1995n71 14 103213138 103280933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902312,nsv902309,nsv902311,nsv902310 M 6533 0 8 KLC1,PPP1R13B,XRCC3,ZFYVE21 IS32322,IS33162,IS33248,IS33455,IS33684,IS33797,IS41410,MS10311 dgv658e1 14 103217278 103482566 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv441,essv23404 M 271 0 0 C14orf2,KLC1,LOC145216,PPP1R13B,TDRD9,XRCC3,ZFYVE21 NA10854 nsv527425 14 103232016 103268004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703863 S 2026 0 1 KLC1,XRCC3,ZFYVE21 nsv470673 14 103232016 103289702 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547617 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KLC1,PPP1R13B,XRCC3,ZFYVE21 HGDP00290 nsv902313 14 103232016 103447840 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546857 S 6533 0 1 KLC1,LOC145216,PPP1R13B,XRCC3,ZFYVE21 MS17208 nsv902314 14 103233654 103240218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509355 S 6533 0 1 KLC1,XRCC3 SP54782 nsv902315 14 103235680 103260280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510082 S 6533 0 1 KLC1,XRCC3,ZFYVE21 SP54956 dgv1996n71 14 103243576 103264914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902317,nsv902316 M 6533 0 2 XRCC3,ZFYVE21 SP54988,SP55021 nsv9171 14 103250307 103252961 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21303 S 31 1 0 Samples from several populations that are part of the HapMap project. XRCC3,ZFYVE21 NA07048 nsv827071 14 103251555 103252786 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433190 S 31 1 0 XRCC3,ZFYVE21 NA18972 nsv9172 14 103318164 103321938 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22448,nssv21266 M 31 2 0 Samples from several populations that are part of the HapMap project. PPP1R13B NA12155,NA19007 nsv902318 14 103324836 103534562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553883 S 6533 0 1 C14orf2,LOC145216,PPP1R13B,TDRD9 MS20359 nsv902319 14 103324836 103689830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523096 S 6533 1 0 ASPG,C14orf2,KIF26A,LOC145216,MIR203,MIR3545,PPP1R13B,TDRD9 SP53625 nsv902320 14 103344047 103377848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515931 S 6533 1 0 PPP1R13B SP56313 nsv902321 14 103352857 103447840 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599430 S 6533 0 1 LOC145216,PPP1R13B IS41634 esv24784 14 103382108 103384768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20166 S 451 0 1 LOC145216,PPP1R13B NA07045 nsv9173 14 103404003 103406239 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21296 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19007 nsv9174 14 103421925 103432696 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22478,nssv26810 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA19221 nsv520846 14 103427829 103428874 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677893,nssv676336 M 2026 0 2 "" esv997353 14 103431733 103432921 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586780 S 3 0 1 "" HuRef esv2630053 14 103432459 103432771 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332679 S 1 1 0 "" NA18507 esv1609549 14 103432689 103432689 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639600 S 2 1 0 "" HuRef esv989307 14 103433775 103433775 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579770 S 3 1 0 "" HuRef esv1076069 14 103433837 103433837 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063020 S 2 1 0 "" HuRef esv1000317 14 103433838 103433838 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574812 S 3 1 0 "" HuRef dgv1997n71 14 103435063 103534562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902322,nsv902323 M 6533 0 12 C14orf2,TDRD9 IS36640,IS41862,IS41877,IS41971,IS41992,MS10393,MS19771,MS20041,MS21290,MS21863,MS22898,MS23025 nsv902324 14 103469393 103534562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584155 S 6533 0 1 TDRD9 IS36882 nsv526680 14 103496796 103638225 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703012 S 2026 1 0 ASPG,TDRD9 nsv1432 14 103500473 103535093 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2928 S 9 1 0 TDRD9 NA18555 nsv84392 14 103535734 103535859 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102970 M 24 TDRD9 nsv820065 14 103588286 103588456 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418959 S 2 1 0 TDRD9 AK1 nsv518521 14 103593592 103615038 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694245 S 2026 1 0 "" dgv1998n71 14 103593592 103732286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902330,nsv902325,nsv902329,nsv902326,nsv902328,nsv902327,nsv902332 M 6533 0 10 ASPG,KIF26A,MIR203,MIR3545 IS32322,IS32841,IS33178,IS33797,IS37985,IS38403,IS39233,IS41410,MS17208,SP54956 dgv1999n71 14 103593592 103936116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902345,nsv902331 M 6533 0 2 ASPG,KIF26A,MIR203,MIR3545 MS10769,MS18276 esv2291051 14 103611692 103612131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984732 S 1 0 1 "" NA18507 nsv470674 14 103615037 103780258 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547621,nssv547624,nssv547620,nssv547625,nssv547619,nssv547618,nssv547622 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASPG,KIF26A,MIR203,MIR3545 HGDP00313,HGDP00315,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00789 dgv2000n71 14 103615038 103716079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902338,nsv902341,nsv902342,nsv902333,nsv902337,nsv902343,nsv902347,nsv902346 M 6533 0 9 ASPG,KIF26A,MIR203,MIR3545 IS30197,IS30837,IS33601,IS33630,IS38293,IS39258,IS40502,IS40799,SP55021 dgv2001n71 14 103615038 103739965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902344,nsv902348,nsv902334,nsv902335,nsv902340,nsv902349 M 6533 0 8 ASPG,KIF26A,MIR203,MIR3545 IS32737,IS33162,IS35484,IS37646,IS40230,MS10311,MS10698,MS16315 nsv902336 14 103616646 103677821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597533 S 6533 0 1 ASPG,KIF26A,MIR203,MIR3545 IS41243 nsv902339 14 103616646 103706337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575311 S 6533 1 0 ASPG,KIF26A,MIR203,MIR3545 IS33702 nsv519605 14 103616646 103727513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657042,nssv685199 M 2026 0 2 ASPG,KIF26A,MIR203,MIR3545 nsv902350 14 103633685 103696951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573896 S 6533 0 1 ASPG,KIF26A,MIR203,MIR3545 IS33504 nsv902351 14 103650825 103726412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576439 S 6533 0 1 KIF26A,MIR203,MIR3545 IS34057 nsv827072 14 103651069 103693913 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427055 S 31 1 0 KIF26A,MIR203,MIR3545 AK6 nsv509553 14 103664621 103781821 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619662,nssv623666 M 4 2 0 KIF26A NA10860,NA18994 esv33795 14 103672199 103672860 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101503,essv95169,essv95362,essv101688,essv94544,essv96073,essv93504,essv99639,essv94993,essv99205,essv100587,essv96290 M 51 6 6 "" 21603,21721,21872,21909,21932,22127,22128,22217,22231,22275,22298,22371 nsv902352 14 103673626 103716079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576278 S 6533 0 1 KIF26A IS34005 dgv2002n71 14 103677821 103732286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902353,nsv902354 M 6533 0 2 KIF26A IS33248,MS11237 nsv832884 14 103680390 103735151 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451168 S 95 0 1 KIF26A esv2490382 14 103689131 103689938 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197968 S 1 1 0 KIF26A NA18507 esv1239775 14 103689685 103689685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153790 S 2 1 0 KIF26A HuRef esv6361 14 103701247 103701651 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28802 S 1 0 1 KIF26A SJK nsv902355 14 103706337 103732081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510895 S 6533 0 1 KIF26A SP54988 nsv85244 14 103744661 103744932 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103822 M 24 "" esv1734093 14 103745124 103745260 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261972 S 2 0 1 "" HuRef esv1932598 14 103745331 103745729 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4773290 S 1 0 1 "" NA18507 esv9624 14 103751421 103751631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32065 S 1 0 1 "" SJK esv26972 14 103753138 103753778 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11498 S 451 0 1 "" NA12878 dgv2003n71 14 103756099 103840194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902356,nsv902358,nsv902359 M 6533 0 3 "" IS33684,MS10123,MS13770 esv2095024 14 103761150 103761633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678676 S 1 0 1 "" NA18507 nsv85035 14 103761490 103761734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103613 M 24 "" nsv902357 14 103761561 103888237 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520870 S 6533 1 0 "" SP51280 esv2457918 14 103767801 103768350 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380984 S 1 1 0 "" NA18507 nsv902360 14 103769248 103878757 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530797 S 6533 0 1 "" MS10311 dgv2004n71 14 103769248 103988702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902361,nsv902362 M 6533 0 2 "" IS39233,MS16153 nsv832885 14 103780000 103946772 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451169 S 95 1 0 "" esv26091 14 103786670 103788289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14818 S 451 0 12 "" NA06985,NA11894,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12878,NA15510,NA19240 nsv820678 14 103786670 103788289 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421101 S 1 0 1 "" NA10851 esv1582458 14 103786875 103787157 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751153 S 2 0 1 "" HuRef nsv84980 14 103786893 103787409 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103558 M 24 "" esv1189542 14 103791717 103791907 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211243 S 2 0 1 "" HuRef dgv2005n71 14 103793186 103851339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902364,nsv902363 M 6533 0 2 "" IS37646,SP54988 dgv264n27 14 103793186 103873344 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456438,nsv456442,nsv456439 M 1557 0 3 "" 1780862306_A,1780862388_A,1782681313_A nsv512379 14 103810635 103813429 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624967 S 1 0 1 "" 1 esv1739382 14 103812091 103813383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167958 S 2 0 1 "" HuRef nsv902365 14 103813993 103862156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499973 S 6533 0 1 "" SP50159 nsv526099 14 103813993 103863299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702347 S 2026 0 1 "" dgv2006n71 14 103813993 103896344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902366,nsv902367 M 6533 0 2 "" MS16315,SP54956 nsv509554 14 103816420 103860124 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621005,nssv619663 M 4 2 0 "" NA10860,NA15510 nsv470675 14 103818429 103943282 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547626 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01412 nsv827073 14 103823361 103841697 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428643 S 31 0 1 "" AK10 nsv513420 14 103826573 103826680 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625818 S 1 1 0 "" 1 esv5820 14 103826698 103826981 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28261 S 1 0 1 "" SJK esv2147882 14 103836192 103836818 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926180 S 1 0 1 "" NA18507 nsv1434 14 103837248 103848401 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9244 S 9 1 0 "" NA12156 esv2001049 14 103846095 103846516 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611023 S 1 0 1 "" NA18507 dgv90e55 14 103849069 104057447 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751161,esv2751159 M 771 2 0 "" BEC_590,BEC_91 nsv456444 14 103863299 104023189 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533762 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00899 nsv85735 14 103869338 103869401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104313 M 24 "" nsv85170 14 103869358 103869421 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103748 M 24 "" esv2751160 14 103878757 103984000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985248,essv6985247 M 771 1 0 "" SPC_13 nsv520826 14 103908282 103943282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697635 S 2026 0 1 "" nsv902368 14 103910861 104018562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585976 S 6533 0 1 "" IS37646 esv2325901 14 103912564 103913030 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837331 S 1 0 1 "" NA18507 nsv85462 14 103912600 103912742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104040 M 24 "" esv269228 14 103923458 103924170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510367,essv2505203 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12414,NA18853 nsv827074 14 103934108 103934874 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439274 S 31 1 0 "" NA18973 nsv528862 14 103943282 103956015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705542 S 2026 0 1 "" nsv509555 14 103954790 104049276 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619664,nssv619665 M 4 1 0 "" NA10860 nsv521332 14 103955650 103956015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697939 S 2026 0 1 "" nsv519840 14 103955650 104032680 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694349 S 2026 1 0 "" esv2351755 14 103967036 103968266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4861325 S 1 0 1 "" NA18507 esv24193 14 103967140 103968890 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14904 S 451 0 1 "" NA18523 esv989365 14 103967185 103968730 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586246 S 3 1 0 "" HuRef nsv902369 14 103967583 104054700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546859 S 6533 0 1 "" MS17208 nsv902370 14 103978318 104038297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538685 S 6533 0 1 "" MS13770 esv1424572 14 103981655 103981655 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813866 S 2 1 0 "" HuRef esv7663 14 104009103 104009513 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30104 S 1 0 1 "" SJK nsv1435 14 104020709 104043002 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9245,nssv2087,nssv5526,nssv4132 M 9 4 0 "" NA12156,NA12878,NA18555,NA19129 esv1007962 14 104036220 104036296 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564962 S 3 1 0 "" HuRef nsv499282 14 104036230 104036292 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586254 S 9 1 0 "" nsv521738 14 104055059 104066938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694503 S 2026 0 1 "" esv2605491 14 104064570 104064789 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209416 S 1 0 1 "" NA18507 esv27900 14 104081922 104084392 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19681 S 451 0 1 "" NA15510 nsv1436 14 104082059 104115902 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9246 S 9 1 0 "" NA12156 nsv902371 14 104082481 104128147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499396 S 6533 0 1 C14orf180 SP50159 nsv902372 14 104082481 104271422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532475 S 6533 0 1 ADSSL1,C14orf180,INF2,MIR4710,TMEM179 MS10769 nsv902373 14 104083903 104149198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510897 S 6533 0 1 C14orf180,TMEM179 SP54988 esv27042 14 104090096 104091204 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17829 S 451 0 1 "" NA18909 nsv470676 14 104094557 104171066 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547627 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C14orf180,TMEM179 HGDP00290 nsv456445 14 104094557 104241048 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533763 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C14orf180,INF2,MIR4710,TMEM179 HGDP00696 dgv2007n71 14 104116569 104210939 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902375,nsv902374 M 6533 2 0 C14orf180,TMEM179 MS23295,MS23984 nsv902376 14 104137489 104171066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506967 S 6533 1 0 TMEM179 SP54442 nsv902377 14 104137930 104190829 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507566 S 6533 1 0 TMEM179 SP54604 dgv2008n71 14 104157520 104304140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902386,nsv902384,nsv902378,nsv902383,nsv902385 M 6533 0 6 ADSSL1,INF2,MIR4710,SIVA1 IS30197,IS32322,IS33248,IS35007,IS39233,MS10123 dgv2009n71 14 104157520 104382294 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902387,nsv902394,nsv902379,nsv902388,nsv902392,nsv902396 M 6533 0 7 ADSSL1,AKT1,INF2,MGC23270,MIR4710,SIVA1,ZBTB42 IS33162,IS33504,IS33665,IS35726,MS11579,MS12262,MS13727 nsv827076 14 104158173 104168227 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441483 S 31 0 1 "" NA18969 dgv2010n71 14 104163524 104256711 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902382,nsv902381,nsv902391,nsv902390,nsv902380 M 6533 0 7 INF2,MIR4710 IS37172,IS39046,IS39258,IS40230,MS10386,MS13770,MS16315 nsv902389 14 104163524 104437544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549866 S 6533 0 1 ADSSL1,AKT1,INF2,KIAA0284,MGC23270,MIR4710,SIVA1,ZBTB42 MS18276 nsv85217 14 104179055 104179110 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103795 M 24 "" dgv2011n71 14 104187277 104286396 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902393,nsv902395 M 6533 0 4 ADSSL1,INF2,MIR4710 IS34235,IS34304,IS38388,MS10204 dgv265n27 14 104197399 104279612 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456446,nsv456448 M 1557 0 2 ADSSL1,INF2,MIR4710 1780862003_A,NINDS_105 nsv470678 14 104197399 104317731 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547636,nssv547637 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADSSL1,AKT1,INF2,MIR4710,SIVA1 HGDP00926,HGDP00983 nsv470677 14 104197399 104419597 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547632,nssv547630,nssv547631,nssv547628,nssv547633,nssv547629,nssv547635 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADSSL1,AKT1,INF2,KIAA0284,MGC23270,MIR4710,SIVA1,ZBTB42 HGDP00298,HGDP00328,HGDP00543,HGDP00550,HGDP00657,HGDP00789,HGDP00978 nsv85009 14 104202555 104202628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103587 M 24 "" dgv2012n71 14 104210939 104345138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902411,nsv902397,nsv902408 M 6533 0 4 ADSSL1,AKT1,INF2,MIR4710,SIVA1,ZBTB42 IS39417,MS10311,MS16153,MS21402 dgv2013n71 14 104217624 104304140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902402,nsv902401,nsv902403,nsv902398 M 6533 0 6 ADSSL1,INF2,SIVA1 IS30369,IS33455,IS37646,IS39817,IS40799,IS41634 nsv517038 14 104217624 104382294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659524,nssv663169,nssv698441,nssv670065,nssv689305,nssv680209,nssv658296,nssv673434,nssv689719,nssv658063,nssv674504,nssv677555,nssv685811,nssv665146,nssv661941,nssv659739,nssv684522,nssv691845,nssv658107,nssv692028,nssv655649,nssv691045,nssv653661,nssv666748,nssv671686,nssv684221,nssv686334,nssv689114,nssv692278 M 2026 0 29 ADSSL1,AKT1,INF2,MGC23270,SIVA1,ZBTB42 dgv2014n71 14 104219700 104271422 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902399,nsv902400,nsv902406 M 6533 0 7 ADSSL1,INF2 IS32737,IS33514,IS33776,IS33797,IS39473,SP54956,SP54988 nsv820230 14 104219700 104317731 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418825 S 2 1 0 ADSSL1,AKT1,INF2,SIVA1 AK1 dgv2015n71 14 104219700 104411688 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902404,nsv902409,nsv902405 M 6533 0 3 ADSSL1,AKT1,INF2,KIAA0284,MGC23270,SIVA1,ZBTB42 IS35484,MS11237,MS17208 esv2616182 14 104220653 104221586 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207382 S 1 1 0 "" NA18507 dgv266n27 14 104225150 104279612 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456454,nsv456453 M 1557 0 2 ADSSL1,INF2 1798860108_A,HGDP00558 nsv456455 14 104225150 104330779 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533769 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADSSL1,AKT1,INF2,SIVA1 HGDP00950 nsv902407 14 104225150 104339273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576164 S 6533 1 0 ADSSL1,AKT1,INF2,SIVA1,ZBTB42 IS33890 nsv902410 14 104227988 104257378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499309 S 6533 0 1 INF2 SP50159 nsv1437 14 104238477 104270478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1220 S 9 1 0 ADSSL1,INF2 NA19240 esv23325 14 104257335 104258830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17102,esv19827 M 451 0 14 "" NA06985,NA12004,NA12156,NA12287,NA12749,NA12828,NA18505,NA18508,NA18517,NA18523,NA18858,NA19114,NA19129,NA19240 esv1750359 14 104257821 104257958 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293496 S 2 0 1 "" HuRef esv1151727 14 104258102 104258102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308907 S 2 1 0 "" HuRef esv26813 14 104289911 104290456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15264 S 451 0 1 "" NA12239 nsv827077 14 104296915 104297473 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423749 S 31 1 0 SIVA1 NA18999 dgv2016n71 14 104309746 104437544 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902412,nsv902413 M 6533 0 2 AKT1,KIAA0284,MGC23270,ZBTB42 MS10311,SP54988 dgv2017n71 14 104318034 104345138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902414,nsv902415 M 6533 0 2 AKT1,ZBTB42 SP54043,SP54956 nsv511544 14 104340824 104348254 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626168 S 1 0 1 ZBTB42 1 nsv512380 14 104344833 104347960 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624968 S 1 0 1 "" 1 nsv820515 14 104344934 104345919 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421103 S 1 0 1 "" NA10851 dgv41n6 14 104344946 104345845 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv85485,nsv85344 M 24 "" esv25119 14 104344999 104345919 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11706 S 451 26 12 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv997872 14 104345041 104345800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580193 S 3 0 1 "" HuRef esv1413059 14 104345073 104345833 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246145 S 2 0 1 "" HuRef nsv902416 14 104348254 104437544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592312 S 6533 0 1 KIAA0284,MGC23270 IS39233 nsv511540 14 104356204 104385138 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626163 S 1 1 0 MGC23270 1 esv23958 14 104364011 104364506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17248 S 451 0 1 "" NA07037 esv2162563 14 104364078 104364572 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999187 S 1 0 1 "" NA18507 esv25838 14 104391143 104400895 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14208,esv18271 M 451 3 0 "" NA06985,NA12044,NA12878 dgv2018n71 14 104394345 104432979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902417,nsv902418 M 6533 0 3 KIAA0284 SP54043,SP54956,SP55021 esv1184619 14 104396755 104396998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227725 S 2 0 1 "" HuRef esv21727 14 104402166 104403501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21324 S 451 0 1 KIAA0284 NA07045 nsv84293 14 104409658 104409817 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv102871 M 24 KIAA0284 nsv827078 14 104421293 104422051 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422157,nssv1422943 M 31 2 0 KIAA0284 NA18552,NA18997 nsv820719 14 104421293 104422627 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421104 S 1 0 1 KIAA0284 NA10851 nsv827079 14 104421293 104422627 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433191 S 31 1 0 KIAA0284 NA18972 esv1296512 14 104421975 104422078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127996 S 2 0 1 KIAA0284 HuRef esv25755 14 104439905 104445087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10989,esv10990 M 451 0 3 "" NA12878,NA18505,NA19240 esv2152466 14 104442400 104442951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738374 S 1 0 1 "" NA18507 dgv2019n71 14 104452808 104565307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902420,nsv902419 M 6533 0 2 AHNAK2,C14orf79,CDCA4,PLD4 IS37646,MS18276 esv25274 14 104471716 104491142 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10665,esv11876,esv11215 M 451 13 0 AHNAK2 NA07037,NA12004,NA12239,NA12828,NA15510,NA18523,NA18858,NA18909,NA19108,NA19114,NA19147,NA19190,NA19225 nsv821194 14 104478056 104491142 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421105 S 1 0 1 AHNAK2 NA10851 dgv390n67 14 104478396 104491140 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827080,nsv827082,nsv827081 M 31 3 0 AHNAK2 NA18552,NA18969,NA18997 nsv902421 14 104481228 104645888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546861 S 6533 0 1 AHNAK2,C14orf79,CDCA4,GPR132 MS17208 nsv1438 14 104483773 104528626 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9247 S 9 0 1 AHNAK2,C14orf79 NA12156 esv2588764 14 104484825 104490807 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387522 S 1 0 1 AHNAK2 NA18507 esv2078334 14 104486944 104488315 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906081 S 1 0 1 AHNAK2 NA18507 dgv2020n71 14 104491260 105041221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902422,nsv902423 M 6533 0 2 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 IS39233,SP54956 nsv456458 14 104506694 104761137 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533770 S 1557 0 1 AHNAK2,BRF1,C14orf79,CDCA4,GPR132,JAG2,NUDT14 1780862444_A nsv902424 14 104507267 105217427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543657 S 6533 0 1 AHNAK2,BRF1,BTBD6,C14orf79,C14orf80,CDCA4,CRIP1,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 MS16153 nsv902425 14 104534981 104761137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575738 S 6533 0 1 BRF1,CDCA4,GPR132,JAG2,NUDT14 IS33797 esv33530 14 104541300 104543243 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100325 S 51 0 1 "" 22300 nsv9175 14 104567554 104759986 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24965,nssv23026,nssv26821 M 31 3 0 Samples from several populations that are part of the HapMap project. BRF1,GPR132,JAG2,NUDT14 NA18502,NA19144,NA19221 nsv902426 14 104571805 104608521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519395 S 6533 1 0 GPR132 SP81014 nsv512381 14 104577290 104578673 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624969 S 1 0 1 "" 1 nsv902427 14 104579622 104656392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576733,nssv1576939 M 6533 0 2 GPR132 IS34235,IS34304 dgv659e1 14 104584391 105020471 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv261,essv17768 M 271 0 0 BRF1,BTBD6,CRIP2,GPR132,JAG2,MTA1,NUDT14,PACS2,TEX22 NA10831 nsv902428 14 104602990 104626441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510900 S 6533 0 1 "" SP54988 esv29833 14 104619966 104622242 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18284 S 451 1 0 "" NA12044 esv2584461 14 104633271 104634118 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231240 S 1 1 0 "" NA18507 nsv902429 14 104635779 104673664 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526762 S 6533 1 0 "" SP57774 dgv391n67 14 104636058 104656689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827083,nsv827084 M 31 2 0 "" NA18542,NA18969 nsv832886 14 104643003 104677708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451170,nssv1451171 M 95 0 2 "" nsv456460 14 104645888 104688087 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533771 S 1557 0 1 JAG2 1780854573_A esv9573 14 104647710 104650635 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32014 S 1 0 1 "" SJK nsv85437 14 104647716 104650640 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104015 M 24 "" esv1149724 14 104648817 104649579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339503 S 2 0 1 "" HuRef dgv2021n71 14 104658689 104770675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902440,nsv902432,nsv902431,nsv902437,nsv902430 M 6533 0 12 BRF1,JAG2,NUDT14 IS31656,IS32737,IS33239,IS35007,IS36170,IS38388,IS40799,IS41894,MS10123,MS10386,MS19630,MS23495 nsv456461 14 104661929 104704544 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533772 S 1557 0 1 JAG2 1780862585_A nsv470679 14 104661929 105143360 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547641,nssv547644,nssv547640,nssv547639,nssv547638,nssv547646,nssv547642,nssv547647,nssv547643 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 HGDP00288,HGDP00302,HGDP00323,HGDP00543,HGDP00657,HGDP00661,HGDP00697,HGDP00882,HGDP00960 nsv902433 14 104667099 104790351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510901 S 6533 0 1 BRF1,BTBD6,JAG2,NUDT14 SP54988 dgv2022n71 14 104673664 104725651 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902447,nsv902434 M 6533 0 2 JAG2,NUDT14 SP51109,SP54672 nsv902435 14 104673664 104725651 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565193,nssv1570640,nssv1596064,nssv1576440,nssv1597418,nssv1585765 M 6533 1 5 JAG2,NUDT14 IS30369,IS32306,IS34057,IS37646,IS40396,IS40947 dgv2023n71 14 104673664 104761137 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902436,nsv902439,nsv902438 M 6533 8 12 BRF1,JAG2,NUDT14 IS30210,IS30473,IS32841,IS33455,IS33493,IS33630,IS34235,IS34912,IS37577,IS37784,IS37996,IS38232,IS38591,IS38688,IS39363,IS39473,IS40230,MS11467,MS15199,MS18554 nsv902441 14 104673664 104987842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580902 S 6533 0 1 BRF1,BTBD6,JAG2,MTA1,NUDT14,PACS2,TEX22 IS35484 dgv2024n71 14 104673664 105138663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902461,nsv902442,nsv902445,nsv902444,nsv902443,nsv902458 M 6533 0 6 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 IS32322,IS33684,IS34304,IS41410,MS13770,MS17208 dgv2025n71 14 104673664 105308150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902463,nsv902457,nsv902462,nsv902465,nsv902446,nsv902459 M 6533 0 6 BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,MTA1,NUDT14,PACS2,TEX22,TMEM121 IS33504,IS37646,IS39417,MS10311,MS10769,MS18276 nsv517055 14 104673664 106258352 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658946,nssv662757,nssv659479,nssv692372,nssv688925,nssv691669,nssv694763,nssv652654,nssv693873,nssv682875,nssv686527,nssv661898,nssv655787,nssv666338,nssv679043,nssv653388,nssv659962,nssv695286,nssv688170,nssv681440,nssv673945,nssv677894,nssv683884,nssv705916,nssv685240,nssv653137,nssv700330,nssv703550,nssv705569,nssv664868,nssv684711,nssv697278,nssv678723,nssv686863,nssv695966,nssv656228,nssv702726,nssv701952,nssv671259,nssv672782,nssv682552,nssv695997,nssv658362,nssv656699,nssv658319,nssv653699,nssv674275,nssv656609 M 2026 23 25 ADAM6,BRF1,BTBD6,C14orf80,CRIP1,CRIP2,JAG2,KIAA0125,LINC00221,LINC00226,MTA1,NUDT14,PACS2,TEX22,TMEM121 nsv817646 14 104686693 104725651 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417935 S 112 0 1 JAG2,NUDT14 NA18853 dgv267n27 14 104686693 104756910 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456466,nsv456467 M 1557 0 2 BRF1,JAG2,NUDT14 HGDP00417,HGDP00679 dgv2026n71 14 104688087 104753572 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902448,nsv902450,nsv902449 M 6533 4 0 BRF1,JAG2,NUDT14 IS33403,IS33547,IS33576,IS33702 dgv2027n71 14 104695738 104761137 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902451,nsv902454 M 6533 2 6 BRF1,JAG2,NUDT14 IS30206,IS32918,IS34051,IS35245,IS36519,IS38431,IS38840,MS11726 dgv2028n71 14 104696788 104731811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902452,nsv902453 M 6533 0 7 JAG2,NUDT14 SP53969,SP54042,SP54776,SP54935,SP55019,SP55077,SP56223 esv2595277 14 104699433 104700270 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280506 S 1 1 0 JAG2 NA18507 esv1065091 14 104700052 104700052 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260632 S 2 1 0 JAG2 HuRef esv32995 14 104703698 104704580 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94860 S 51 0 1 JAG2 22231 dgv2029n71 14 104704544 104770675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902456,nsv902455 M 6533 0 2 BRF1,JAG2,NUDT14 IS34407,SP50159 esv24764 14 104704564 104706834 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16945 S 451 0 1 JAG2 NA07045 dgv2030n71 14 104717224 104802300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902460,nsv902464 M 6533 0 3 BRF1,BTBD6,NUDT14 IS30837,IS37172,MS16315 nsv510651 14 104727927 104796200 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620077 S 4 0 1 BRF1,BTBD6 NA15510 esv1641714 14 104730074 104730191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248751 S 2 0 1 "" HuRef nsv1439 14 104747513 104784449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1221,nssv5527,nssv4133,nssv2088,nssv9248,nssv10033 M 9 6 0 BRF1 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv827085 14 104759765 104763641 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437022 S 31 1 0 BRF1 NA18542 nsv9176 14 104766457 104778724 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24798,nssv21588,nssv22125,nssv22387,nssv20002,nssv21333,nssv24990,nssv20964,nssv22239,nssv26832,nssv21694,nssv21316,nssv23054,nssv19721,nssv22508,nssv21006,nssv25378 M 31 4 13 Samples from several populations that are part of the HapMap project. BRF1 NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18537,NA18552,NA18564,NA18860,NA18942,NA18975,NA19132,NA19144,NA19221 esv1010073 14 104767055 104778320 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586704 S 3 1 0 BRF1 HuRef esv21762 14 104767055 104778340 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18111 S 451 5 6 BRF1 NA06985,NA07037,NA11931,NA12004,NA12044,NA12156,NA12878,NA15510,NA18517,NA19108,NA19257 nsv902466 14 104775510 104919936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536073 S 6533 1 0 BRF1,BTBD6,PACS2 MS12609 esv29986 14 104778337 104903908 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84225 S 2 0 1 BRF1,BTBD6,PACS2 HuRef dgv2031n71 14 104780151 104792853 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902468,nsv902467 M 6533 0 5 BRF1,BTBD6 SP54043,SP54725,SP54776,SP55019,SP55021 dgv26n68 14 104788384 104914954 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832888,nsv832887 M 95 0 2 BRF1,BTBD6,PACS2 esv2953 14 104809194 104809757 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25394 S 1 0 1 Single Asian sample YH BRF1 YH esv2265156 14 104813142 104813648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807304 S 1 0 1 BRF1 NA18507 esv22709 14 104813275 104819075 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14789,esv13029 M 451 1 1 BRF1 NA12239,NA19257 esv1410440 14 104813776 104814253 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234449 S 2 0 1 BRF1 HuRef esv1158096 14 104814347 104814612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289911 S 2 0 1 BRF1 HuRef nsv832889 14 104822654 104944254 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451175 S 95 0 1 BRF1,PACS2,TEX22 dgv2032n71 14 104828437 105045826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902469,nsv902475 M 6533 0 3 BRF1,C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22 IS30369,IS33340,SP54725 dgv2033n71 14 104828437 105138663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902474,nsv902471,nsv902470 M 6533 0 4 BRF1,C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22,TMEM121 IS33455,IS34235,IS40297,SP54988 dgv2034n71 14 104828437 105308150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902472,nsv902476 M 6533 0 6 BRF1,C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22,TMEM121 IS32737,IS32841,IS33248,IS37172,MS10698,MS16315 nsv902473 14 104831538 104970389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511492 S 6533 0 1 BRF1,MTA1,PACS2,TEX22 SP55021 nsv832890 14 104842337 105020471 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451176,nssv1451180,nssv1451181,nssv1451179,nssv1451178,nssv1451177 M 95 0 6 BRF1,CRIP2,MTA1,PACS2,TEX22 esv24753 14 104851524 104852722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13507 S 451 0 2 BRF1,PACS2 NA07045,NA12004 nsv511535 14 104851551 104852251 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626158 S 1 1 0 BRF1,PACS2 1 nsv827087 14 104878571 104883700 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435405 S 31 0 1 PACS2 NA18942 esv1001547 14 104887305 104887305 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583459 S 3 1 0 PACS2 HuRef nsv902477 14 104894674 104940395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506046 S 6533 0 1 PACS2,TEX22 SP54043 nsv902478 14 104908377 104931934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514290 S 6533 0 1 PACS2 SP55992 nsv817647 14 104919936 105017887 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415702 S 112 1 0 CRIP2,MTA1,PACS2,TEX22 NA12248 dgv2035n71 14 104919936 105308150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902482,nsv902479 M 6533 0 4 C14orf80,CRIP1,CRIP2,MTA1,PACS2,TEX22,TMEM121 IS40230,IS40396,MS11237,MS11306 nsv902480 14 104944189 105079690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574803 S 6533 0 1 C14orf80,CRIP1,CRIP2,MTA1,TEX22,TMEM121 IS33630 nsv902481 14 104944189 105138663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597323,nssv1534741 M 6533 0 2 C14orf80,CRIP1,CRIP2,MTA1,TEX22,TMEM121 IS40799,MS11726 dgv2036n71 14 104974769 105045826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902483,nsv902487 M 6533 0 3 C14orf80,CRIP1,CRIP2,MTA1 SP50159,SP54043,SP54782 nsv84553 14 104976510 104976510 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103131 M 24 MTA1 esv999483 14 104976536 104976536 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577060 S 3 1 0 MTA1 HuRef esv1287990 14 104976556 104976556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257836 S 2 1 0 MTA1 HuRef dgv2037n71 14 104977118 105138663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902491,nsv902485,nsv902484 M 6533 0 3 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 IS33239,MS17522,SP55021 esv998455 14 104980177 104980177 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569781 S 3 1 0 MTA1 HuRef esv996317 14 104980232 104980232 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578286 S 3 1 0 MTA1 HuRef esv1257424 14 104980233 104980233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731935 S 2 1 0 MTA1 HuRef nsv85362 14 104980239 104980239 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103940 M 24 MTA1 dgv2038n71 14 104981017 105020138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902486,nsv902489,nsv902488 M 6533 0 3 CRIP2,MTA1 SP54593,SP54657,SP54672 nsv902490 14 104987842 105083528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593153 S 6533 0 1 C14orf80,CRIP1,CRIP2,MTA1,TMEM121 IS39363 nsv827088 14 104991851 105035931 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433192 S 31 1 0 C14orf80,CRIP1,CRIP2,MTA1 NA18972 nsv902492 14 104995831 105016430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505877 S 6533 0 1 CRIP2,MTA1 SP54042 esv1158347 14 104996603 104997134 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793930 S 2 0 1 MTA1 HuRef dgv2039n71 14 104998981 105020138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902493,nsv902494,nsv902496,nsv902495 M 6533 0 4 CRIP2,MTA1 SP51109,SP54621,SP54684,SP55019 nsv1440 14 105010552 105017244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5528 S 9 1 0 CRIP2 NA19129 esv21791 14 105011526 105012661 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12844 S 451 0 1 CRIP2 NA12004 nsv9177 14 105013898 105023380 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26843 S 31 1 0 Samples from several populations that are part of the HapMap project. CRIP2 NA19221 esv1004211 14 105014652 105016706 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564833 S 3 1 0 CRIP2 HuRef nsv513421 14 105015132 105015360 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625819 S 1 1 0 CRIP2 1 esv1077360 14 105015256 105015310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840663 S 2 0 1 CRIP2 HuRef esv1320613 14 105039660 105039660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308647 S 2 1 0 "" HuRef nsv1441 14 105040053 105072612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5529 S 9 1 0 TMEM121 NA19129 esv29981 14 105042939 105839639 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84220 S 2 1 0 ADAM6,KIAA0125,LINC00226,TMEM121 HuRef dgv2040n71 14 105045826 105246247 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902500,nsv902501,nsv902497 M 6533 3 0 TMEM121 IS35148,IS36400,MS10758 dgv2041n71 14 105045826 105308150 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902536,nsv902498,nsv902511 M 6533 9 0 TMEM121 IS30288,IS32411,IS33691,IS34346,IS34443,IS37149,IS38430,IS38521,MS24483 nsv821346 14 105058072 105058817 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421106 S 1 0 1 "" NA10851 esv27023 14 105058072 106360515 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10657,esv11823,esv17946,esv11290,esv20987,esv16406,esv20559,esv11208,esv13153,esv11623,esv15824,esv15671,esv19786,esv18411,esv17634,esv13496,esv15380,esv13795,esv12603,esv20372,esv12922,esv13997,esv14732,esv21003,esv15198,esv19170,esv13092,esv16799,esv11014,esv11494,esv15486,esv11227,esv13655,esv13994,esv14455,esv11964,esv17344,esv18394,esv20288,esv15913,esv13952,esv20552,esv11996,esv19034,esv11638,esv15943,esv20782,esv17992,esv13774,esv12691,esv9831,esv13205,esv14222,esv16681,esv19356,esv13589,esv11805,esv21402,esv12482,esv11962,esv19169,esv13226,esv13740,esv14612,esv16972,esv20434,esv15989,esv9851,esv11497,esv11814,esv17873,esv13527,esv10266,esv10981,esv20715,esv16909,esv12489,esv10336,esv14392,esv12943,esv16101,esv16904,esv11950,esv18526,esv10905,esv20415,esv12673,esv12926,esv18567,esv18536,esv11167,esv10357,esv14547,esv10309 M 451 39 39 ADAM6,KIAA0125,LINC00221,LINC00226,TMEM121 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1007621 14 105058147 105058817 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586547 S 3 1 0 "" HuRef dgv2042n71 14 105058778 105237160 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902499,nsv902505,nsv902504 M 6533 0 3 TMEM121 IS31587,IS34407,IS39233 dgv2043n71 14 105058778 105259090 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902528,nsv902510,nsv902502 M 6533 16 3 TMEM121 IS30350,IS31359,IS33175,IS33857,IS34395,IS34494,IS35127,IS35484,IS36559,IS36789,IS37778,IS37960,IS38209,IS38263,IS38293,IS41524,IS41871,MS22109,SP52724 nsv902503 14 105058778 105308150 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563716,nssv1565195,nssv1587887,nssv1576441,nssv1574901,nssv1587651 M 6533 3 3 TMEM121 IS30051,IS30369,IS33665,IS34057,IS38081,IS38128 dgv2044n71 14 105069589 105308150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902506,nsv902507 M 6533 0 2 "" IS38144,IS38463 nsv827089 14 105079064 105082961 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435406 S 31 0 1 "" NA18942 nsv827090 14 105080140 105082961 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441487 S 31 1 0 "" NA18969 dgv2045n71 14 105080617 105224179 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902509,nsv902508,nsv902523,nsv902514 M 6533 12 0 "" IS33702,IS35145,IS35205,IS37194,IS38552,IS40494,IS41112,IS41786,MS15805,MS17450,MS25674,SP53550 esv29955 14 105082760 105286523 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84194 S 3 0 1 "" WATSON esv32735 14 105082785 105118907 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97269 S 51 1 0 "" 22075 dgv2046n71 14 105083528 105138663 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902513,nsv902512 M 6533 2 0 "" SP50753,SP55647 dgv2047n71 14 105083528 105237160 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902525,nsv902524,nsv902515,nsv902516,nsv902517 M 6533 18 11 "" IS32864,IS34472,IS35010,IS35782,IS35968,IS36458,IS37964,IS38670,IS39499,MS11663,MS11980,MS13253,MS14855,MS15541,MS16373,MS18256,MS18748,MS18940,MS19571,MS22797,MS25042,SP52655,SP53509,SP55295,SP56830,SP56936,SP58389,SP80967,SP81255 dgv2048n71 14 105083528 105259090 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902529,nsv902519,nsv902518,nsv902535,nsv902520,nsv902550 M 6533 41 0 "" IS30111,IS30388,IS30423,IS30532,IS30814,IS31617,IS33575,IS33587,IS33800,IS33890,IS34310,IS34821,IS35833,IS35954,IS36183,IS36442,IS37144,IS37157,IS37645,IS38016,IS38050,IS38603,IS39780,IS40003,IS40966,IS41008,IS41308,IS41901,IS41919,MS10121,MS10296,MS14779,MS15525,MS18537,MS20039,MS24103,MS25901,SP53251,SP54792,SP56267,SP58404 dgv2049n71 14 105083528 105308150 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902530,nsv902563,nsv902544,nsv902551,nsv902521 M 6533 53 10 "" IS30076,IS30210,IS30319,IS30363,IS30368,IS30395,IS30413,IS30522,IS30725,IS31096,IS31145,IS31169,IS31207,IS31401,IS31419,IS31758,IS32686,IS32850,IS33262,IS33543,IS33616,IS33850,IS34434,IS34489,IS34599,IS35007,IS35179,IS35255,IS35280,IS35495,IS35633,IS35982,IS36532,IS37353,IS37421,IS37817,IS37969,IS37995,IS37996,IS38069,IS38093,IS38198,IS38315,IS38367,IS38487,IS38490,IS38585,IS38637,IS39494,IS39503,IS39721,IS39722,IS40039,IS40582,IS40752,IS40776,IS41938,MS13770,MS15704,MS17973,MS23875,MS26073,SP81347 nsv436183 14 105090281 105209261 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466770 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv902522 14 105091411 105153801 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507355 S 6533 1 0 "" SP54535 dgv2050n71 14 105099614 105246247 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902526,nsv902557,nsv902541,nsv902556,nsv902533,nsv902560,nsv902527 M 6533 11 0 "" IS36552,MS14786,MS14837,MS20468,MS24951,SP50519,SP52430,SP52573,SP57158,SP57278,SP58209 dgv2051n71 14 105108671 105244835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902532,nsv902534,nsv902542,nsv902531,nsv902559 M 6533 0 9 "" IS34397,IS37062,MS10291,MS15118,MS15679,MS22306,SP52416,SP54976,SP57044 esv1005373 14 105118442 105118653 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580772 S 3 0 1 "" HuRef esv1602067 14 105118448 105118660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004555 S 2 0 1 "" HuRef nsv902537 14 105118950 105195765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507408 S 6533 0 1 "" SP54672 dgv2052n71 14 105118950 105224179 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902539,nsv902540 M 6533 7 2 "" IS30191,IS36248,MS15997,MS21397,MS25751,MS26069,SP55321,SP56757,SP81553 dgv2053n71 14 105118950 105224179 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902552,nsv902546,nsv902553,nsv902554,nsv902555,nsv902545,nsv902538 M 6533 16 0 "" IS40854,MS24045,SP50081,SP50118,SP51118,SP51132,SP51473,SP54516,SP54666,SP55637,SP55649,SP55750,SP55984,SP56172,SP57336,SP81534 dgv2054n71 14 105118950 105259090 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902548,nsv902549,nsv902543,nsv902558,nsv902561,nsv902562,nsv902547 M 6533 49 17 "" IS30883,IS31286,IS31812,IS31875,IS32361,IS32680,IS32744,IS33027,IS33372,IS33830,IS34409,IS35100,IS36320,IS36364,IS36517,IS37321,IS38235,IS38419,IS38466,IS38594,IS38724,IS39100,IS39426,IS40157,IS40402,IS40433,IS40739,IS40748,IS41664,MS10195,MS10301,MS13553,MS14384,MS14810,MS16834,MS18752,MS25101,SP50134,SP50575,SP50663,SP50783,SP51040,SP51481,SP52017,SP52117,SP52582,SP53399,SP53474,SP53515,SP54761,SP54768,SP54942,SP55013,SP55024,SP55110,SP55539,SP55650,SP55715,SP56004,SP56750,SP57443,SP80925,SP80931,SP81243,SP81324,SP81498 nsv819048 14 105119020 105393351 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418798 S 2 1 0 "" AK1 nsv817648 14 105123078 105246247 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417065,nssv1417066,nssv1416273 M 112 0 3 "" NA06994,NA07029,NA12056 nsv817649 14 105123078 106237639 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417643 S 112 0 1 ADAM6,KIAA0125,LINC00221,LINC00226 NA18992 esv32669 14 105124961 106037469 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101591,essv101611,essv101431,essv101484,essv101472,essv101604,essv98778,essv98869,essv97567,essv101121,essv101167,essv93922,essv93880,essv93798,essv100643,essv100681,essv96853,essv100966,essv100927,essv101082,essv101056,essv101044,essv101004,essv95078,essv95188,essv95175,essv95143,essv95068,essv95065,essv98282,essv98226,essv98169,essv98168,essv98156,essv98152,essv98146,essv94743,essv94781,essv94139,essv94019,essv101344,essv94463,essv94376,essv94361,essv97022,essv96945,essv96933,essv97071,essv97033,essv97936,essv97905,essv97867,essv97848,essv97842,essv97822,essv95601,essv95605,essv95434,essv95557,essv93046,essv93032,essv93016,essv95320,essv97299,essv97452,essv101639,essv101779,essv101770,essv101697,essv95842,essv95910,essv95908,essv94479,essv94553,essv94562,essv94620,essv94627,essv94645,essv94495,essv99070,essv99128,essv92880,essv92885,essv92697,essv92738,essv93617,essv96088,essv96118,essv96132,essv96166,essv96633,essv96603,essv96602,essv97225,essv98535,essv98594,essv98622,essv98623,essv98638,essv100040,essv100067,essv99864,essv99887,essv95974,essv96034,essv93424,essv93434,essv93478,essv93493,essv93264,essv99596,essv99702,essv99686,essv99630,essv94899,essv94925,essv95015,essv95017,essv92633,essv92541,essv92583,essv98084,essv98094,essv98124,essv97987,essv98033,essv96479,essv96425,essv99288,essv99191,essv97634,essv97680,essv97716,essv100209,essv100262,essv100265,essv100160,essv100565,essv100552,essv100447,essv100367,essv99494,essv99449,essv98463,essv98458,essv98437,essv98425,essv96401,essv96380,essv96251,essv94270,essv94268,essv94254,essv94220,essv94200,essv94192,essv94180 M 51 50 15 ADAM6,KIAA0125,LINC00221,LINC00226 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 esv1087200 14 105127834 105127834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104479 S 2 1 0 "" HuRef esv1625699 14 105127845 105127945 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074342 S 2 0 1 "" HuRef esv1363599 14 105131126 105131588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727080 S 2 0 1 "" HuRef nsv436188 14 105133013 105256578 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466771 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv433278 14 105138663 105195765 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463159 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 dgv392n67 14 105139809 106106327 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827093,nsv827091 M 31 0 2 ADAM6,KIAA0125,LINC00221,LINC00226 AK4,NA18542 nsv1442 14 105142320 105195403 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1222 S 9 0 1 "" NA19240 nsv456468 14 105143361 105246247 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533776 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00970 dgv2055n71 14 105143515 105206378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902564,nsv902565 M 6533 0 3 "" SP50046,SP55915,SP56834 dgv2056n71 14 105143515 105268029 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902570,nsv902579,nsv902567,nsv902586,nsv902566 M 6533 20 0 "" IS33577,IS33868,IS35372,IS39353,IS41869,MS10709,MS11284,MS17310,SP51089,SP52131,SP52621,SP52889,SP53144,SP54753,SP56995,SP57418,SP57875,SP58091,SP58561,SP81076 dgv2057n71 14 105143515 105308150 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902568,nsv902571 M 6533 15 0 "" IS30351,IS31909,IS32703,IS32763,IS33403,IS34562,IS35670,IS36071,IS36196,IS36411,IS37946,IS39386,IS40050,MS15050,SP57771 esv1004306 14 105148612 105205670 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586458 S 3 1 0 "" HuRef nsv902569 14 105153801 105206378 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500437 S 6533 1 0 "" SP50125 esv2312221 14 105155023 105155414 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812075 S 1 0 1 "" NA18507 esv996883 14 105155205 105155260 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573067 S 3 0 1 "" HuRef nsv498835 14 105155554 105176124 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585696 S 9 0 1 "" esv1010634 14 105160370 105204105 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574401 S 3 0 1 "" HuRef nsv435650 14 105160389 105205439 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466773 S 2 0 1 "" NA15510 nsv902572 14 105161788 105181876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508991 S 6533 0 1 "" SP54625 dgv2058n71 14 105161788 105206378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902573,nsv902581 M 6533 0 3 "" SP52377,SP54581,SP54790 nsv902574 14 105161788 105212472 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509695,nssv1504043,nssv1513119,nssv1518260,nssv1518246,nssv1512142 M 6533 4 2 "" SP52165,SP54937,SP55310,SP55684,SP57478,SP57481 dgv2059n71 14 105161788 105224179 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902575,nsv902583,nsv902582 M 6533 5 0 "" SP50148,SP50523,SP50535,SP56003,SP57983 dgv2060n71 14 105161788 105245531 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902580,nsv902585,nsv902576,nsv902584 M 6533 4 0 "" SP54535,SP55034,SP55277,SP57430 dgv2061n71 14 105161788 105259090 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902578,nsv902592,nsv902577 M 6533 7 3 "" SP51254,SP52019,SP52122,SP54892,SP54956,SP56144,SP57238,SP57469,SP57518,SP58305 nsv902587 14 105165405 105308150 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538933,nssv1600528,nssv1577201,nssv1583937,nssv1547620,nssv1530225 M 6533 4 2 "" IS34386,IS36727,IS41894,MS10278,MS13866,MS17492 esv1124853 14 105165482 105165482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040078 S 2 1 0 "" HuRef nsv85265 14 105165579 105165658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103843 M 24 "" esv997830 14 105167454 105186252 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574863 S 3 0 1 "" HuRef nsv85811 14 105173246 105173305 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104389 M 24 "" dgv2062n71 14 105181876 105268029 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902589,nsv902588,nsv902591,nsv902590,nsv902593 M 6533 11 0 "" SP50156,SP51494,SP53458,SP54078,SP54648,SP55160,SP55774,SP56047,SP57651,SP57741,SP57874 esv1083296 14 105183805 105183805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785637 S 2 1 0 "" HuRef nsv435649 14 105187250 105281514 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466774 S 2 0 1 "" NA15510 nsv85261 14 105188090 105188152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103839 M 24 "" esv9379 14 105194716 105293704 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31820 S 1 0 1 "" SJK nsv7258 14 105197961 105232163 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6614 S 9 0 0 "" NA12156 dgv50e180 14 105198810 105305627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv998949,esv988550 M 3 0 1 "" HuRef dgv268n27 14 105208512 105270624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456472,nsv456470,nsv456475,nsv456471,nsv456476,nsv456469,nsv456473 M 1557 0 7 "" 1780862394_A,1787431167_A,HGDP00608,HGDP00654,HGDP00732,HGDP01241,HGDP01338 nsv902594 14 105208512 105468205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537496 S 6533 1 0 KIAA0125 MS13228 nsv456477 14 105208512 106176088 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533784 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAM6,KIAA0125,LINC00221,LINC00226 HGDP01103 nsv1443 14 105208744 106174849 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10921,nssv5530,nssv1231,nssv9508,nssv2092,nssv4134,nssv10034,nssv10038,nssv5532,nssv1226,nssv2089,nssv9509,nssv1224,nssv4137,nssv9303,nssv10035,nssv4135,nssv2090,nssv6619,nssv6615,nssv6616,nssv5531,nssv1225 M 9 0 9 ADAM6,KIAA0125,LINC00221,LINC00226 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv902595 14 105217427 106013941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592688 S 6533 1 0 ADAM6,KIAA0125,LINC00221,LINC00226 IS39243 nsv827092 14 105238383 105245410 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437756 S 31 1 0 "" NA18949 esv2291972 14 105251716 105252132 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909774 S 1 0 1 "" NA18507 esv1190275 14 105252058 105252421 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731837 S 2 0 1 "" HuRef esv1754091 14 105252709 105253039 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610551 S 2 0 1 "" HuRef nsv832891 14 105264725 105433220 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451185,nssv1451187,nssv1451186,nssv1451182 M 95 0 4 "" nsv433531 14 105268029 105388147 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463412 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv393n67 14 105279518 105393872 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827095,nsv827094,nsv827101 M 31 0 3 "" NA18566,NA18582,NA18999 dgv42n16 14 105280556 105399373 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435654,nsv436186 M 2 0 2 "" NA15510,NA18505 esv1011270 14 105280968 105309307 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583402 S 3 0 1 "" HuRef esv1619369 14 105282285 105282285 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226386 S 2 1 0 "" HuRef esv1453552 14 105282624 105282624 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765976 S 2 1 0 "" HuRef dgv394n67 14 105283055 105872380 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827121,nsv827105,nsv827096,nsv827098,nsv827100,nsv827110 M 31 0 7 ADAM6,KIAA0125,LINC00226 AK12,AK16,AK18,AK2,AK20,AK6,AK8 nsv827099 14 105283337 105552547 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434708 S 31 0 1 ADAM6,KIAA0125 NA18570 esv8016 14 105288146 105386118 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30457 S 1 0 0 "" SJK esv1002625 14 105289618 105930091 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586037 S 3 1 0 ADAM6,KIAA0125,LINC00226 HuRef nsv7259 14 105290146 105343366 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9302 S 9 0 0 "" NA18517 nsv469723 14 105294028 105477141 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649744 M 265 8 36 Samples from several populations that are part of the HapMap project. KIAA0125 nsv471673 14 105294029 105831033 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550809,nssv550733,nssv550202,nssv550194,nssv550776,nssv550200,nssv550770,nssv550233,nssv550771,nssv549874,nssv550235,nssv550802,nssv550213,nssv550715,nssv550780,nssv549839,nssv550211,nssv550199,nssv550198,nssv550792,nssv550219,nssv550709,nssv549860,nssv549840,nssv550738,nssv550790,nssv550783,nssv550730,nssv550196,nssv550706,nssv550788,nssv550741,nssv550209,nssv550226,nssv550767,nssv550777,nssv550810,nssv549858,nssv550224,nssv550805,nssv550207,nssv550728,nssv550793,nssv550786,nssv549872,nssv550801,nssv550712,nssv549873,nssv550725,nssv549837,nssv549854,nssv550775,nssv550799,nssv549865,nssv550784,nssv549863,nssv550716,nssv550722,nssv550215,nssv550724,nssv550806,nssv550779,nssv550204,nssv550745,nssv550746,nssv549845,nssv549875,nssv550223,nssv549846,nssv549853,nssv550797,nssv550732,nssv550229,nssv550220,nssv550736,nssv550230,nssv550743,nssv550227,nssv550772,nssv550734,nssv550707,nssv549868,nssv549850,nssv550795,nssv549867,nssv550782,nssv549871,nssv550221,nssv549869,nssv550191,nssv550781,nssv550807,nssv550705,nssv550774,nssv550740,nssv550214,nssv550720,nssv550768,nssv549857,nssv549838,nssv550228,nssv550735,nssv549842,nssv550731,nssv550800,nssv549848,nssv549861,nssv550794,nssv550708,nssv550727,nssv550723,nssv549866,nssv549843,nssv549870,nssv550719,nssv550222,nssv550803,nssv550206,nssv550216,nssv550232,nssv550710,nssv550201,nssv550769,nssv550193,nssv550203,nssv549851,nssv549859,nssv550747,nssv550798,nssv550739,nssv550714,nssv550787,nssv549844,nssv550742,nssv549847,nssv550773,nssv550197,nssv550713,nssv549855,nssv550804,nssv549849,nssv550210,nssv549864,nssv550218,nssv550717,nssv550192,nssv550217,nssv550726,nssv549856,nssv550785,nssv550729,nssv550789,nssv550711,nssv550718,nssv550231,nssv550808,nssv550234,nssv550208,nssv550791,nssv549852,nssv549862,nssv550744,nssv550205,nssv550195,nssv549841,nssv550721,nssv550737,nssv549836,nssv550778,nssv550212,nssv550796,nssv550225 M 48 1 46 ADAM6,KIAA0125,LINC00226 JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17058,NA17059,P86GA nsv95 14 105301889 105469293 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv95 S 1 0 1 KIAA0125 NA15510 dgv395n67 14 105307845 105394165 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827104,nsv827103,nsv827109,nsv827102,nsv827107 M 31 0 5 "" NA18537,NA18942,NA18949,NA18951,NA18997 nsv498836 14 105311004 105451267 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585697 S 9 0 1 "" nsv827106 14 105314054 105374030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432403 S 31 0 1 "" AK20 nsv438264 14 105314416 105374891 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470633,nssv470634 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA06994,NA07019 nsv433532 14 105322394 105374370 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463413 S 9 0 1 "" NA15510 dgv27n68 14 105325858 105517442 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832894,nsv832893 M 95 4 42 ADAM6,KIAA0125 nsv821677 14 105329646 106093098 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421286,nssv1421285,nssv1421284,nssv1421273,nssv1421281,nssv1421277,nssv1421274,nssv1421276,nssv1421278,nssv1421282,nssv1421280,nssv1421283,nssv1421275,nssv1421272 M 31 14 0 ADAM6,KIAA0125,LINC00221,LINC00226 nsv85005 14 105387912 105387912 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103583 M 24 "" esv1026629 14 105388240 105388240 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770101 S 2 1 0 "" HuRef esv1182237 14 105390922 105390922 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907951 S 2 1 0 "" HuRef nsv85748 14 105390923 105390923 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv104326 M 24 "" esv1174553 14 105394505 105394569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869842 S 2 0 1 "" HuRef esv1170789 14 105396997 105397048 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294420 S 2 0 1 "" HuRef nsv436184 14 105399821 106038154 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466777 S 2 0 1 Samples from several populations that are part of the HapMap project. ADAM6,KIAA0125,LINC00221,LINC00226 NA18505 nsv436179 14 105400309 105590477 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466778 S 2 0 1 Samples from several populations that are part of the HapMap project. ADAM6,KIAA0125 NA18505 nsv827111 14 105400486 105460229 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440650 S 31 0 1 KIAA0125 NA18564 nsv511534 14 105400851 105803914 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626157 S 1 1 0 ADAM6,KIAA0125 1 nsv435655 14 105400920 105442961 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466779 S 2 0 1 "" NA15510 dgv396n67 14 105401329 105401874 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827112,nsv827116,nsv827115,nsv827113,nsv827114 M 31 0 6 "" NA18526,NA18566,NA18582,NA18592,NA18951,NA18969 nsv819250 14 105401488 105417121 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418655 S 2 1 0 "" AK1 dgv397n67 14 105401738 105404207 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827117,nsv827118 M 31 0 2 "" AK10,AK14 nsv827120 14 105401864 105432721 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422213 S 31 0 1 "" NA18547 esv987933 14 105404684 105404684 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580370 S 3 1 0 "" HuRef esv1491296 14 105404921 105404921 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878800 S 2 1 0 "" HuRef nsv827122 14 105405180 105405765 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425323,nssv1432405 M 31 0 2 "" AK2,AK20 dgv398n67 14 105405180 105414992 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827124,nsv827123,nsv827126,nsv827125 M 31 0 10 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8 dgv399n67 14 105415274 105432721 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827131,nsv827127,nsv827128 M 31 0 3 "" AK10,AK14,NA18582 nsv827129 14 105415929 105416596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430913,nssv1427839,nssv1431633,nssv1427059,nssv1426131,nssv1432408 M 31 0 6 "" AK16,AK18,AK20,AK4,AK6,AK8 nsv819640 14 105417121 105442254 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418700 S 2 1 0 "" AK1 dgv400n67 14 105427672 105428736 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827132,nsv827134 M 31 0 4 "" AK12,AK16,AK18,AK8 nsv827133 14 105427672 105432721 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439966 S 31 0 1 "" NA18537 dgv401n67 14 105434305 105451085 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827139,nsv827135,nsv827136 M 31 0 3 "" NA18947,NA18951,NA18999 nsv827137 14 105434305 105467524 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435975 S 31 0 1 KIAA0125 NA18592 nsv827138 14 105434305 105541580 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433978 S 31 0 1 ADAM6,KIAA0125 NA18526 dgv402n67 14 105441206 105444991 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827140,nsv827143 M 31 0 2 "" NA18942,NA18972 esv992971 14 105441619 105443955 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586119 S 3 0 1 "" HuRef dgv403n67 14 105441674 105451711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827145,nsv827144 M 31 0 2 "" NA18566,NA18968 nsv435653 14 105443144 105454476 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466780 S 2 0 1 "" NA15510 esv1001368 14 105452963 105632924 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586594 S 3 0 1 ADAM6,KIAA0125 HuRef nsv819133 14 105456047 105599853 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418785 S 2 1 0 ADAM6,KIAA0125 AK1 nsv827146 14 105466535 105467567 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435411 S 31 0 1 KIAA0125 NA18942 nsv827147 14 105466678 105783960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440651 S 31 0 1 ADAM6,KIAA0125 NA18564 nsv827148 14 105468032 105477437 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435412 S 31 0 1 KIAA0125 NA18942 nsv827149 14 105468032 105642642 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435986 S 31 0 1 ADAM6,KIAA0125 NA18592 dgv404n67 14 105468064 105468752 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827151,nsv827152,nsv827150 M 31 5 0 KIAA0125 AK14,AK16,AK18,AK20,AK8 nsv902596 14 105468533 105529364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503479 S 6533 0 1 ADAM6,KIAA0125 SP52060 nsv902597 14 105468533 105837886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540489,nssv1541324 M 6533 2 0 ADAM6,KIAA0125,LINC00226 MS14855,MS15242 nsv514717 14 105468608 105469104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628222 S 1414 0 1 KIAA0125 nsv902598 14 105476704 105610172 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519417 S 6533 1 0 ADAM6 SP81015 nsv832895 14 105480026 105600462 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451249,nssv1451248,nssv1451238,nssv1451241,nssv1451247,nssv1451240,nssv1451243,nssv1451244,nssv1451242,nssv1451246,nssv1451251,nssv1451252,nssv1451254,nssv1451253,nssv1451257,nssv1451258,nssv1451256,nssv1451255,nssv1451245 M 95 3 16 ADAM6 nsv827154 14 105480272 105481830 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435413 S 31 0 1 "" NA18942 esv1056365 14 105484251 105484343 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591505 S 2 0 1 "" HuRef nsv511038 14 105500885 105558157 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624347,nssv618675 M 4 0 0 ADAM6 CHM,NA18994 nsv827155 14 105508335 105567121 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424557 S 31 0 1 ADAM6 NA18582 nsv469817 14 105512456 105672588 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649838 M 265 34 5 Samples from several populations that are part of the HapMap project. "" esv999941 14 105512662 105523346 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564901 S 3 0 1 "" HuRef nsv512382 14 105519660 105522057 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624970 S 1 0 1 "" 1 nsv902599 14 105529364 105735612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557741 S 6533 0 1 "" MS22854 nsv433424 14 105529364 105929315 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463305 S 9 1 0 Samples from several populations that are part of the HapMap project. LINC00226 NA19240 esv33760 14 105534410 106253675 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101544,essv97462,essv101250,essv93907,essv100684,essv100963,essv95090,essv98265,essv101427,essv96881,essv97881,essv95738,essv95553,essv97372,essv94574,essv92725,essv96095,essv97270,essv99880,essv96064,essv93295,essv97971,essv99214,essv97707,essv100275,essv100434,essv99423,essv99394,essv98479,essv96325,essv94157 M 51 29 2 LINC00221,LINC00226 21603,21616,21618,21634,21656,21693,21721,21772,21805,21817,21837,21841,21847,21879,21932,21944,22007,22075,22086,22127,22170,22259,22275,22278,22286,22300,22335,22352,22371,22394 esv1494238 14 105537985 105537985 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978006 S 2 1 0 "" HuRef nsv1445 14 105542885 105574268 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4136,nssv1227 M 9 2 0 "" NA12878,NA19240 nsv512383 14 105543550 105555697 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624971 S 1 0 1 "" 1 nsv436051 14 105547168 105843452 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466781 S 2 1 0 LINC00226 NA15510 nsv514718 14 105554768 105579560 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627145 S 1414 0 0 "" esv990015 14 105554777 105556064 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565691 S 3 1 0 "" HuRef nsv827156 14 105556510 105565060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435414 S 31 0 1 "" NA18942 nsv827157 14 105556510 105623207 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441489 S 31 0 1 "" NA18969 nsv438265 14 105585123 106064990 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470646,nssv470636,nssv470642,nssv470637,nssv470648,nssv470644,nssv470643,nssv470647,nssv470639,nssv470638,nssv470640,nssv470645,nssv470635 M 269 0 11 Samples from several populations that are part of the HapMap project. LINC00221,LINC00226 NA06994,NA07029,NA18594,NA18870,NA18872,NA19000,NA19159,NA19161,NA19171,NA19172,NA19173 nsv832896 14 105586163 105757311 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451260,nssv1451282,nssv1451281,nssv1451259,nssv1451280,nssv1451262,nssv1451263,nssv1451267,nssv1451264,nssv1451268,nssv1451266,nssv1451279,nssv1451265,nssv1451269,nssv1451278,nssv1451270,nssv1451271,nssv1451274,nssv1451277,nssv1451273,nssv1451276,nssv1451275 M 95 3 19 "" nsv902600 14 105587447 105908651 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596347,nssv1597738,nssv1530287,nssv1580191,nssv1590201,nssv1523972 M 6533 2 4 LINC00226 IS35236,IS38469,IS40494,IS40966,MS10296,SP54312 nsv902601 14 105587447 105917122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595735 S 6533 1 0 LINC00226 IS40307 nsv510652 14 105594829 105616212 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617419 S 4 0 1 "" CHM dgv2063n71 14 105597634 105908651 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902603,nsv902602,nsv902605 M 6533 0 8 LINC00226 IS30477,IS31634,IS36051,IS36064,IS40956,IS41869,IS41950,SP55749 nsv507767 14 105600645 105606645 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623176 S 4 1 0 "" NA18994 dgv405n67 14 105601891 105632741 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827158,nsv827159 M 31 0 6 "" NA18552,NA18570,NA18582,NA18942,NA18949,NA18973 esv993208 14 105611175 105642642 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586811 S 3 0 1 "" HuRef nsv1446 14 105614448 105644256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1228 S 9 1 0 "" NA19240 nsv514719 14 105620848 105632576 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628223 S 1414 0 0 "" nsv509556 14 105627715 105649696 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623667 S 4 1 0 "" NA18994 nsv902604 14 105630045 105997070 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580400 S 6533 0 1 LINC00226 IS35294 nsv820254 14 105655817 105852471 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418791 S 2 1 0 LINC00226 AK1 nsv832897 14 105659034 105849327 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451301,nssv1451298,nssv1451296,nssv1451290,nssv1451297,nssv1451302,nssv1451287,nssv1451300,nssv1451289,nssv1451288,nssv1451293,nssv1451286,nssv1451292,nssv1451291,nssv1451285,nssv1451299,nssv1451284 M 95 0 17 LINC00226 nsv469645 14 105679972 105831033 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649572 M 265 23 12 Samples from several populations that are part of the HapMap project. LINC00226 nsv902606 14 105690736 105908651 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575320,nssv1588917,nssv1583108,nssv1596966,nssv1536732,nssv1574860,nssv1540437,nssv1592994,nssv1564312,nssv1536453,nssv1575501,nssv1540269 M 6533 1 11 LINC00226 IS30197,IS33663,IS33705,IS33760,IS36258,IS38266,IS39331,IS40680,MS12787,MS12938,MS14769,MS14842 dgv2064n71 14 105693097 105858619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902608,nsv902609,nsv902607 M 6533 0 3 LINC00226 SP54480,SP54875,SP55401 dgv2065n71 14 105708717 105858619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902612,nsv902613,nsv902610 M 6533 3 0 LINC00226 SP50532,SP51030,SP51469 nsv902611 14 105716956 105750699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506797 S 6533 0 1 "" SP54406 nsv827160 14 105735947 105850051 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439967 S 31 0 1 LINC00226 NA18537 esv269843 14 105758005 105758402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506146 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18523 nsv1447 14 105766031 105789651 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10036,nssv6617 M 9 2 0 "" NA12156,NA18956 nsv832898 14 105779689 105964048 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451314,nssv1451303,nssv1451307,nssv1451305,nssv1451313,nssv1451310,nssv1451309,nssv1451311,nssv1451312,nssv1451316,nssv1451315,nssv1451320,nssv1451304,nssv1451318,nssv1451319,nssv1451321,nssv1451308,nssv1451323,nssv1451322 M 95 2 17 LINC00226 nsv827161 14 105784286 105784835 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440653 S 31 0 1 "" NA18564 dgv406n67 14 105786258 105801376 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827163,nsv827162,nsv827167,nsv827168 M 31 4 0 "" AK16,AK18,AK8,NA18592 esv2191035 14 105786809 105797958 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990719 S 1 0 1 "" NA18507 nsv509558 14 105787573 105787573 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623668 S 4 1 0 "" NA18994 nsv513751 14 105787854 105798397 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627003 S 1 1 0 "" 1 nsv827165 14 105788029 105792044 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440654,nssv1433979,nssv1427846,nssv1431637,nssv1430919 M 31 5 0 "" AK16,AK18,AK8,NA18526,NA18564 nsv827166 14 105788029 105798566 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435416,nssv1430075,nssv1429607,nssv1422225,nssv1422946,nssv1433194 M 31 0 6 "" NA18547,NA18552,NA18942,NA18947,NA18968,NA18972 nsv436828 14 105789738 105794064 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466782 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1006569 14 105793834 105799623 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564294 S 3 1 0 "" HuRef nsv1448 14 105794276 105829568 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10037,nssv2091 M 9 2 0 LINC00226 NA18555,NA18956 nsv827169 14 105795934 105798566 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433980 S 31 1 0 "" NA18526 nsv827170 14 105796724 105798566 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440655 S 31 1 0 "" NA18564 nsv827171 14 105801825 105802540 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437024 S 31 0 1 "" NA18542 dgv2066n71 14 105802398 105900771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902615,nsv902614 M 6533 0 4 LINC00226 SP52868,SP54409,SP54620,SP55851 esv270061 14 105827953 105828296 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519388 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 nsv511039 14 105834654 105906738 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621630,nssv622408 M 4 0 0 "" NA10860,NA15510 nsv827172 14 105836068 105851462 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429618 S 31 0 1 "" NA18968 nsv902616 14 105837886 106068983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545555 S 6533 1 0 LINC00221 MS16832 dgv2067n71 14 105837886 106341415 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902623,nsv902617 M 6533 2 0 LINC00221 IS33239,MS11137 nsv902618 14 105837886 106368585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527972,nssv1522511 M 6533 0 2 LINC00221 SP53196,SP81092 dgv407n67 14 105850162 106249834 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827173,nsv827178,nsv827181,nsv827180,nsv827179 M 31 0 5 LINC00221 NA18947,NA18972,NA18973,NA18997,NA18999 dgv408n67 14 105852159 105857221 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827174,nsv827184,nsv827182 M 31 0 3 "" NA18547,NA18947,NA18969 dgv409n67 14 105852159 105882429 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827187,nsv827176 M 31 0 3 "" NA18547,NA18969,NA18972 nsv827177 14 105852159 105899569 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429629 S 31 0 1 "" NA18968 nsv827183 14 105852565 105882429 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436008 S 31 1 0 "" NA18592 dgv40e19 14 105852652 105884128 CNV Loss Ahn et al 2009 19470904 Sequencing esv6331,esv8622,esv9432 M 1 0 1 "" SJK esv2065196 14 105853978 105878917 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4653038 S 1 0 1 "" NA18507 dgv410n67 14 105856782 105881020 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827188,nsv827185,nsv827189 M 31 0 4 "" AK6,NA18564,NA18947,NA18997 nsv1449 14 105859122 105872252 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2093 S 9 1 0 "" NA18555 nsv436052 14 105859543 105878539 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466784 S 2 1 0 "" NA15510 esv1372211 14 105859906 105859906 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660121 S 2 1 0 "" HuRef esv2365584 14 105860068 105861175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4795448 S 1 0 1 "" NA18507 nsv436725 14 105860183 105865746 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466785 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv507768 14 105860336 105866336 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617893,nssv619135,nssv623177 M 4 3 0 "" CHM,NA10860,NA18994 nsv819239 14 105867722 105879101 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418609 S 2 0 1 "" AK1 esv2062725 14 105870715 105895685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757600 S 1 0 1 "" NA18507 dgv411n67 14 105872128 105877390 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827191,nsv827190 M 31 0 4 "" AK14,AK2,NA18526,NA18582 nsv514720 14 105872360 105881728 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627146 S 1414 0 0 "" nsv1450 14 105872997 105875012 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1229 S 9 1 0 "" NA19240 nsv1451 14 105875049 105891701 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1230,nssv6618 M 9 2 0 "" NA12156,NA19240 nsv827192 14 105875724 105882429 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431638 S 31 1 0 "" AK18 nsv84536 14 105880472 105889022 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103114 M 24 "" nsv827193 14 105881088 105897261 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427061 S 31 0 1 "" AK6 esv2422444 14 105881550 106206942 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161390 S 181 0 1 LINC00221 ND02405 esv271184 14 105884591 105884676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515964 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv827194 14 105896861 105924552 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437759 S 31 0 1 "" NA18949 nsv827195 14 105896861 106153521 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435417 S 31 0 1 LINC00221 NA18942 nsv514721 14 105897056 105921952 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627147 S 1414 0 0 "" esv2422368 14 105899000 106074012 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161464 S 181 1 0 LINC00221 ND03527 nsv832899 14 105906072 106066046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451336,nssv1451332,nssv1451326,nssv1451337,nssv1451327,nssv1451335,nssv1451325,nssv1451333,nssv1451331,nssv1451324,nssv1451334,nssv1451330,nssv1451329 M 95 0 13 LINC00221 nsv902619 14 105917122 106088226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539367 S 6533 0 1 LINC00221 MS14313 dgv2068n71 14 105917122 106144845 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902625,nsv902620 M 6533 3 0 LINC00221 IS32699,IS38671,SP54583 dgv2069n71 14 105917122 106171256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902621,nsv902622 M 6533 0 11 LINC00221 IS30363,IS33221,IS34051,IS34804,IS35287,IS37738,IS38119,IS38219,IS38262,IS39022,IS41166 esv1008228 14 105917324 105918041 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586879 S 3 0 1 "" HuRef esv2560956 14 105925022 106007944 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319765 S 1 0 1 "" NA18507 dgv412n67 14 105934643 105948547 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827196,nsv827198 M 31 2 0 "" AK4,AK8 nsv436827 14 105935785 106003854 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466786 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv997198 14 105939796 105999925 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565735 S 3 0 1 "" HuRef esv2285263 14 105944336 105944780 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903850 S 1 0 1 "" NA18507 nsv827199 14 105944923 105948547 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436172 S 31 1 0 "" NA18566 esv1948658 14 105945935 105946343 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628691 S 1 0 1 "" NA18507 nsv902624 14 105948974 105997070 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503221 S 6533 0 1 "" SP52008 esv990206 14 105949165 106013469 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586534 S 3 0 1 LINC00221 HuRef esv2024856 14 105951074 105951791 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985014 S 1 0 1 "" NA18507 nsv436177 14 105954175 105989829 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466787 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv514722 14 105961560 105989216 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628224 S 1414 0 1 "" esv5528 14 105961635 105962398 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27969 S 1 0 0 "" SJK dgv2070n71 14 105987341 106158907 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902626,nsv902628 M 6533 2 2 LINC00221 IS31123,IS35853,IS37326,IS40296 nsv902627 14 105987341 106295344 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598812 S 6533 1 0 LINC00221 IS41263 dgv413n67 14 105987653 106009242 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827200,nsv827201,nsv827202 M 31 4 0 "" AK12,AK8,NA18526,NA18566 nsv832900 14 105991294 106085250 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451346,nssv1451359,nssv1451365,nssv1451342,nssv1451348,nssv1451352,nssv1451358,nssv1451349,nssv1451351,nssv1451338,nssv1451357,nssv1451355,nssv1451356,nssv1451353,nssv1451360,nssv1451362,nssv1451341,nssv1451363,nssv1451354,nssv1451347,nssv1451345,nssv1451366,nssv1451367,nssv1451344,nssv1451364,nssv1451340,nssv1451343 M 95 0 27 LINC00221 esv2081830 14 105996461 105996959 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857868 S 1 0 1 "" NA18507 nsv84763 14 105996581 105996701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv103341 M 24 "" nsv817650 14 105997070 106019705 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418315,nssv1418316 M 112 2 0 LINC00221 NA19092,NA19094 dgv269n27 14 105997070 106047919 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456481,nsv456478,nsv456479,nsv456480 M 1557 0 4 LINC00221 1780854441_A,HGDP00189,HGDP00230,HGDP01417 nsv817652 14 105997070 106049356 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418102,nssv1417068 M 112 0 2 LINC00221 NA07029,NA11881 nsv817653 14 105997070 106076741 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416797,nssv1416796 M 112 2 0 LINC00221 NA19159,NA19161 nsv817654 14 105997070 106088226 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417457,nssv1415601,nssv1416009,nssv1415703 M 112 2 2 LINC00221 NA10830,NA10835,NA12740,NA18953 dgv270n27 14 105997070 106094023 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456489,nsv456490,nsv456482,nsv456544,nsv456487,nsv456557,nsv456484,nsv456483,nsv456492,nsv456491,nsv456543,nsv456488 M 1557 0 12 LINC00221 HGDP00527,HGDP00632,HGDP00776,HGDP00891,HGDP00934,HGDP01206,HGDP01209,HGDP01221,HGDP01245,NINDS_247,NINDS_66,NINDS_72 dgv271n27 14 105997070 106117190 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456547,nsv456486 M 1557 2 0 LINC00221 HGDP00665,HGDP01185 dgv272n27 14 105997070 106127399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456506,nsv456494,nsv456501,nsv456502,nsv456497,nsv456548,nsv456546,nsv456503,nsv456545,nsv456504,nsv456500,nsv456508,nsv456498,nsv456505,nsv456499,nsv456558,nsv456493,nsv456495 M 1557 0 18 LINC00221 1780854080_A,1780854525_A,1780862015_A,1780862298_A,1780862520_A,1798860108_A,HGDP00224,HGDP00428,HGDP00454,HGDP00460,HGDP00591,HGDP00650,HGDP00689,HGDP00727,HGDP00925,HGDP01217,NINDS_53,NINDS_85 nsv817655 14 105997070 106148359 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417067,nssv1416794,nssv1415791,nssv1418401 M 112 0 4 LINC00221 NA06994,NA12146,NA12865,NA19160 nsv817656 14 105997070 106158907 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418105,nssv1417784,nssv1417785 M 112 1 2 LINC00221 NA10859,NA10863,NA12264 nsv456523 14 105997070 106176088 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533830 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00221 HGDP00090 dgv273n27 14 105997070 106195287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456550,nsv456519,nsv456511,nsv456526,nsv456549,nsv456516,nsv456517,nsv456524,nsv456514,nsv456525,nsv456510,nsv456512,nsv456509,nsv456520,nsv456559,nsv456522,nsv456527,nsv456521,nsv456515,nsv456513,nsv456528 M 1557 0 21 LINC00221 1780854118_A,1780862457_A,1782681179_A,1782681495_A,HGDP00281,HGDP00330,HGDP00433,HGDP00474,HGDP00476,HGDP00535,HGDP00543,HGDP00626,HGDP00686,HGDP00783,HGDP00786,HGDP00941,HGDP01193,HGDP01213,HGDP01285,HGDP01397,NINDS_244 dgv20n64 14 105997070 106259859 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817657,nsv817658 M 112 0 3 LINC00221 NA12750,NA12875,NA18612 dgv274n27 14 105997070 106259859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456554,nsv456534,nsv456555,nsv456541,nsv456532,nsv456553,nsv456536,nsv456542,nsv456530,nsv456538,nsv456560,nsv456539,nsv456535,nsv456531,nsv456556,nsv456537,nsv456533 M 1557 0 17 LINC00221 1780854158_A,1780862394_A,1780862469_A,HGDP00125,HGDP00326,HGDP00471,HGDP00654,HGDP00699,HGDP00713,HGDP00820,HGDP00994,HGDP01034,HGDP01167,HGDP01177,HGDP01237,HGDP01406,HGDP01414 esv2169993 14 106000178 106000642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648315 S 1 0 1 "" NA18507 esv2165460 14 106003590 106004598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740396 S 1 0 1 "" NA18507 dgv2071n71 14 106013941 106174705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902632,nsv902630,nsv902629,nsv902633 M 6533 0 4 LINC00221 IS36727,MS10127,MS10356,MS11569 nsv817659 14 106016927 106049356 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416096,nssv1416097 M 112 2 0 LINC00221 NA12801,NA12813 esv1147088 14 106025363 106025363 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069192 S 2 1 0 "" HuRef nsv902631 14 106029993 106158907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598798 S 6533 1 0 "" IS40809 nsv456561 14 106037939 106088226 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533868 S 1557 0 1 "" NINDS_242 nsv817660 14 106037939 106088226 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415864 S 112 1 0 "" NA11992 dgv275n27 14 106040558 106237639 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456562,nsv456567 M 1557 0 2 "" 1798860192_A,NINDS_27 dgv276n27 14 106041164 106158907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456564,nsv456566 M 1557 0 2 "" 1780862042_A,1780862301_A nsv456565 14 106047919 106076741 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533872 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226 nsv817661 14 106047919 106088226 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415600,nssv1418508,nssv1417214 M 112 1 2 "" NA12154,NA18576,NA19193 nsv832901 14 106048091 106218118 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451370,nssv1451369,nssv1451371,nssv1451368,nssv1451373,nssv1451374,nssv1451375 M 95 1 6 "" esv995372 14 106057909 106057968 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568129 S 3 0 1 "" HuRef esv1557725 14 106057922 106057922 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975806 S 2 1 0 "" HuRef esv1155018 14 106057922 106057982 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595403 S 2 0 1 "" HuRef nsv456568 14 106066496 106117190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533875 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01417 nsv817663 14 106066496 106148359 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417069 S 112 0 1 "" NA07029 nsv817664 14 106066496 106185238 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416994 S 112 0 1 "" NA10857 nsv817665 14 106075867 106127399 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415914 S 112 1 0 "" NA11994 dgv277n27 14 106076741 106259859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456569,nsv456573,nsv456575 M 1557 0 3 "" HGDP00183,HGDP00702,HGDP01404 nsv456570 14 106088047 106127399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533877 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00540 dgv278n27 14 106088047 106148359 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456572,nsv456571 M 1557 0 2 "" HGDP00696,HGDP00739 nsv469849 14 106099158 106230477 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649870 M 265 1 41 Samples from several populations that are part of the HapMap project. "" nsv471674 14 106099159 106230477 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550897,nssv550905,nssv550899,nssv550900,nssv550901,nssv550896,nssv550902,nssv550904,nssv550903,nssv550898,nssv550906 M 48 2 9 "" JK1051,NA10471,NA10472,NA10495,NA10496,NA10979,NA11776,NA15725,NA16689,NA17051,NA17058 dgv279n27 14 106107737 106237639 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456577,nsv456576,nsv456584 M 1557 0 3 "" 1780846321_A,1780854486_A,NINDS_220 dgv280n27 14 106111466 106193970 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456579,nsv456582,nsv456578,nsv456583 M 1557 0 4 "" HGDP00356,HGDP00582,HGDP00849,HGDP01305 nsv456580 14 106117190 106127399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533887 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00237 nsv832902 14 106118005 106302057 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451380,nssv1451384,nssv1451379,nssv1451381,nssv1451378,nssv1451382,nssv1451377,nssv1451376 M 95 6 2 "" esv7700 14 106119592 106201976 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30141 S 1 0 1 "" SJK nsv456581 14 106127100 106148359 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533888 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01256 dgv281n27 14 106144845 106195287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456589,nsv456586 M 1557 0 2 "" HGDP00673,HGDP00899 dgv282n27 14 106144845 106296206 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456593,nsv456587,nsv456598 M 1557 0 3 "" 1780846005_A,HGDP00643,NINDS_89 nsv456588 14 106144845 106307255 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533895 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00635 dgv283n27 14 106148359 106217737 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456590,nsv456591,nsv456592 M 1557 0 3 "" 1780854215_A,HGDP00043,NINDS_109 nsv436727 14 106156836 106158118 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466788 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv456594 14 106158907 106195287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533901 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682 dgv284n27 14 106158907 106243464 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456597,nsv456600,nsv456595 M 1557 0 3 "" HGDP00330,HGDP00786,HGDP00885 esv2232153 14 106163524 106163932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516475 S 1 0 1 "" NA18507 esv3853 14 106164852 106344882 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26294 S 1 1 0 Single Asian sample YH "" YH nsv456599 14 106171256 106214339 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533906 S 1557 1 0 "" NINDS_67 esv1922277 14 106171691 106172246 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949242 S 1 0 1 "" NA18507 nsv456601 14 106174317 106256042 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533908 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00189 nsv456602 14 106176088 106217737 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533909 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01412 nsv902634 14 106176088 106303012 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537267 S 6533 0 1 "" MS13148 nsv456603 14 106180071 106195287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533910 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01189 nsv902635 14 106185238 106331778 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525447 S 6533 1 0 "" SP56582 esv2240442 14 106186915 106187565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687000 S 1 0 1 "" NA18507 nsv456604 14 106195287 106345097 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533911 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00901 essv17371 14 106210547 106212167 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18517 essv14206 14 106210547 106215123 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18913 essv24098 14 106210547 106238827 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07048 dgv660e1 14 106210547 106253619 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1678,essv9480,essv7663,essv16569,essv24443,essv19323,essv24617,essv24634,essv1649 M 271 0 0 "" NA10846,NA12865,NA12872,NA12875,NA18632,NA18961,NA18992,NA19154,NA19193 dgv661e1 14 106210547 106264422 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11392,essv2928,essv10722,essv14249,essv7055,essv10973,essv12025,essv14671,essv22805,essv19476,essv15153,essv18048,essv13251,essv9550,essv8717,essv24361,essv19816,essv10500,essv13291,essv19051,essv16375,essv17858,essv3323,essv7914,essv17990,essv15190 M 271 0 0 "" NA06993,NA10839,NA10857,NA11830,NA12005,NA12750,NA12753,NA12864,NA18504,NA18508,NA18612,NA18861,NA18948,NA19007,NA19092,NA19100,NA19116,NA19143,NA19145,NA19172,NA19192,NA19200,NA19201,NA19202,NA19210,NA19239 dgv662e1 14 106210547 106295344 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1306,essv19854,essv3501,essv2764,essv19123,essv18499,essv7955,essv8270,essv12434,essv13217,essv8566,essv20461,essv13234,essv9846,essv23645,essv22722,essv7889,essv4351,essv14941,essv19742,essv20852,essv15437,essv18902,essv6794,essv24337,essv18471,essv13123,essv1700,essv25106,esv1392,essv15956,essv8018,essv21953,essv14844,essv21891,essv24182,essv23151,essv22695,essv22263,essv3835,essv8075,essv23091 M 271 0 0 "" NA06991,NA06994,NA07000,NA07055,NA07056,NA10831,NA10859,NA11829,NA11832,NA11882,NA11992,NA12004,NA12043,NA12044,NA12156,NA12234,NA12239,NA12717,NA12814,NA18594,NA18622,NA18859,NA18871,NA18953,NA18968,NA18980,NA18999,NA19000,NA19119,NA19120,NA19130,NA19131,NA19132,NA19140,NA19142,NA19144,NA19152,NA19153,NA19161,NA19203,NA19206 essv24537 14 106210628 106223861 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11831 dgv285n27 14 106210628 106243464 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456606,nsv456605 M 1557 0 2 "" 1780862457_A,HGDP00476 nsv456608 14 106214339 106259859 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533915 S 1557 1 0 "" 1798860570_A dgv2072n71 14 106217737 106256042 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902638,nsv902636,nsv902637,nsv902639 M 6533 17 0 "" SP50783,SP51140,SP51192,SP52058,SP54478,SP54603,SP55834,SP56023,SP56710,SP56846,SP56878,SP56927,SP57201,SP57489,SP57671,SP57874,SP81059 nsv827203 14 106219415 106252305 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437025 S 31 1 0 "" NA18542 esv989283 14 106219559 106255989 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587078 S 3 1 0 "" HuRef dgv663e1 14 106223861 106253619 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14015,essv20864,essv20736,essv25126,essv12927,essv8390,essv11344,essv11061,essv513,essv20817 M 271 0 0 "" NA07357,NA10855,NA10856,NA12145,NA18952,NA19093,NA19094,NA19128,NA19138,NA19222 esv1001697 14 106231851 106234119 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565454 S 3 1 0 "" HuRef esv2445273 14 106232793 106233547 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320458 S 1 1 0 "" NA18507 esv2476233 14 106244701 106246496 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237503 S 1 0 1 "" NA18507 nsv820516 14 106245040 106245947 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421107 S 1 0 1 "" NA10851 nsv509559 14 106245222 106245222 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618109 S 4 1 0 "" CHM esv2091837 14 106245373 106246018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4534807 S 1 0 1 "" NA18507 dgv2073n71 14 106252471 106354150 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902642,nsv902641,nsv902640 M 6533 3 0 "" IS41780,SP50634,SP80977 dgv286n27 14 106256042 106347672 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456611,nsv456609,nsv456610 M 1557 3 0 "" 1780854295_A,1780854334_A,NINDS_73 nsv521374 14 106258352 106259859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697984 S 2026 0 1 "" nsv524402 14 106258352 106295344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700321 S 2026 0 1 "" nsv902643 14 106287351 106347672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525037 S 6533 1 0 "" SP55463 nsv520689 14 106347672 106358708 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680833,nssv674083,nssv696938 M 2026 2 1 "" esv22518 15 18260050 18970195 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18294,esv19141,esv17125,esv21232,esv13459,esv15588,esv14655,esv15754,esv20076,esv15456,esv10849,esv20222,esv13706,esv16468,esv20601,esv9795,esv18708,esv16214,esv21409,esv17112,esv13922,esv18369,esv12363,esv10443,esv21158,esv19127,esv13680,esv12386,esv21404 M 451 26 22 HERC2P3,LOC646096 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 dgv664e1 15 18263733 18473371 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12811,essv7308,essv3391 M 271 0 0 "" NA18570,NA18945,NA19120 dgv665e1 15 18263733 18617195 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4854,essv2247,essv7602,essv4013 M 271 0 0 "" NA18540,NA18545,NA18966,NA18970 dgv666e1 15 18263733 19014108 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv676,essv495,essv24803,essv12176,essv13415,essv263,essv11037,essv6230,essv15306,essv2327,essv1215 M 271 0 0 GOLGA6L6,HERC2P3,LOC646096 NA10860,NA18636,NA18862,NA18940,NA18951,NA18952,NA18975,NA18978,NA19101,NA19143,NA19192 dgv667e1 15 18263733 19484504 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16662,essv12899,essv19686,essv18631,essv4409,essv15279,essv22502,essv6620,essv795,essv1929,essv20599 M 271 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB NA07056,NA11882,NA12234,NA12264,NA18522,NA18573,NA18621,NA18956,NA18959,NA19094,NA19142 dgv668e1 15 18263733 20097557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25134,essv844,essv9244,essv24087,essv1353,essv8755,essv5770,essv1088,essv20218,essv149,essv22564,essv573,essv7507,essv22131,essv20547,essv17037,essv18203,essv6425,essv7199,essv17931,essv8631,essv14443,essv12578,essv9910,essv19865,essv22367,essv20042,essv4798,essv19260,essv24866,essv4978,essv13073,essv21827,essv4647,essv12395,essv17313,essv9808,essv19104,essv19523,essv9586,essv24447,essv13399,essv14523,essv17758,essv9692,essv12759,essv1613,essv18259,essv24608,essv5440,essv22817,essv12689,essv13951,essv20132,essv16062,essv3640,essv7870,essv14055 M 271 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA07000,NA07048,NA07055,NA07345,NA07348,NA10831,NA10838,NA10846,NA10856,NA10857,NA10859,NA11839,NA11995,NA12003,NA12004,NA12057,NA12144,NA12234,NA12864,NA12865,NA12875,NA18500,NA18501,NA18532,NA18540,NA18545,NA18547,NA18594,NA18620,NA18632,NA18637,NA18852,NA18856,NA18861,NA18863,NA18872,NA18913,NA18914,NA18942,NA18966,NA18968,NA18973,NA18990,NA18998,NA19007,NA19092,NA19098,NA19128,NA19140,NA19144,NA19145,NA19160,NA19201,NA19202,NA19238,NA19239 esv2513077 15 18266649 18273755 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372365 S 1 0 1 "" NA18507 esv1164608 15 18281880 18284533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320561 S 2 0 1 "" HuRef esv1418259 15 18296247 18296398 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831037 S 2 0 1 "" HuRef nsv511040 15 18305383 19648792 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622409,nssv621631 M 4 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB NA10860,NA15510 nsv832904 15 18327536 18543505 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451388,nssv1451387,nssv1451386,nssv1451385 M 95 4 0 "" nsv902644 15 18344190 18456449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546316 S 6533 0 1 "" MS17130 nsv832905 15 18353059 18537491 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451389,nssv1451391,nssv1451390,nssv1451392,nssv1451393 M 95 2 3 "" esv993979 15 18366614 18366676 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579411 S 3 0 1 "" HuRef nsv436833 15 18367132 18404121 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466789 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv827204 15 18370512 18427606 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432410 S 31 1 0 "" AK20 dgv2074n71 15 18370664 18485052 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902645,nsv902651 M 6533 0 3 "" SP54356,SP56084,SP57401 dgv2075n71 15 18380754 18579277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902662,nsv902646,nsv902652,nsv902653 M 6533 0 4 "" IS35492,MS11137,MS16846,MS18658 dgv2076n71 15 18380818 18464662 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902647,nsv902650,nsv902648 M 6533 0 4 "" SP50097,SP52094,SP56172,SP57278 nsv902649 15 18380818 18474541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516298 S 6533 1 0 "" SP56766 dgv669e1 15 18403665 20545323 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20525,essv23282,essv19304,essv332,essv3035,essv10178,essv23113,essv24267,essv20863,essv638,essv24632,essv24188,essv4199,essv1326,essv17852,essv18498,essv7678,essv18874,essv19731,essv12035,essv1711,essv11611,essv12862,essv7483,essv2598,essv21686,essv21951,essv2919,essv7640,essv24209,essv21878,essv18892,essv18560,essv21480,essv6459,essv1549,essv19879,essv5609,essv24327,essv19137,essv20984,essv6087,essv22247,essv21199,essv24102,essv25157,essv22025,essv21632,essv25053,essv23628,essv19314,essv22282,essv19376,essv5896,essv17693,essv7469,essv18031,essv19806,essv22705,essv22605,essv928,essv10515,essv13350,essv6484,essv10971,essv20162,essv11930,essv38,essv19132 M 271 0 0 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5 NA06991,NA07000,NA07019,NA07022,NA07029,NA07048,NA07055,NA07056,NA07345,NA07348,NA10830,NA10835,NA10846,NA10851,NA10856,NA10857,NA10859,NA10863,NA11830,NA11832,NA11839,NA11881,NA11882,NA11992,NA12004,NA12043,NA12044,NA12144,NA12145,NA12154,NA12156,NA12248,NA12716,NA12717,NA12762,NA12801,NA12812,NA12815,NA12864,NA12872,NA12878,NA18500,NA18502,NA18516,NA18526,NA18561,NA18576,NA18593,NA18620,NA18621,NA18632,NA18633,NA18636,NA18637,NA18949,NA18968,NA18971,NA18973,NA18981,NA18990,NA18991,NA18998,NA19007,NA19012,NA19092,NA19116,NA19207,NA19240 dgv2077n71 15 18403975 18456449 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902655,nsv902656,nsv902654 M 6533 0 21 "" SP50082,SP50832,SP51035,SP51115,SP52432,SP53044,SP54448,SP54552,SP54593,SP54681,SP54682,SP54967,SP55026,SP55100,SP55160,SP55318,SP56197,SP56861,SP56950,SP56959,SP57482 nsv827205 15 18408756 18426172 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433198 S 31 1 0 "" NA18972 nsv9178 15 18410066 18431801 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24823,nssv22538,nssv21745,nssv23112,nssv21380 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18853,NA18980,NA19132,NA19144 nsv442358 15 18415652 18454752 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv670e1 15 18419709 18617195 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13603,essv23983,essv14142,essv22229,essv24658,essv13135,essv13726,essv22945,essv11092,essv6134,essv10147,essv20418,essv6884,essv19768,essv16465,essv2835,essv13865,essv13527,essv22291,essv7687,essv24574,essv1757,essv23517,essv5752,essv8177,essv14734,essv2075,essv22783,essv12850,essv22081,essv1149,essv8869,essv5543 M 271 0 0 "" NA06985,NA06993,NA07019,NA07357,NA10830,NA10835,NA11829,NA11992,NA12044,NA12154,NA12716,NA18508,NA18529,NA18532,NA18593,NA18605,NA18633,NA18854,NA18949,NA18953,NA18964,NA18997,NA19102,NA19119,NA19120,NA19127,NA19130,NA19139,NA19140,NA19159,NA19160,NA19206,NA19211 dgv671e1 15 18419709 18838769 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10336,essv12526,essv18079,essv21589,essv16493,essv6863,essv2171,essv21118,essv23395 M 271 0 0 LOC646096 NA10854,NA12145,NA12155,NA12815,NA18506,NA18558,NA18960,NA19207,NA19210 dgv672e1 15 18419709 19257408 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19708,essv4945,essv7017,essv23370,essv5001,essv14314,essv22890,essv22654 M 271 0 0 GOLGA6L6,GOLGA8C,HERC2P3,LOC646096,LOC646214,NBEAP1 NA12236,NA12750,NA12752,NA12760,NA18537,NA18571,NA18612,NA19194 nsv428296 15 18419709 20428072 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452544,nssv452561,nssv452585,nssv452551,nssv452538,nssv452541,nssv452550,nssv452549,nssv452543,nssv452562,nssv452559,nssv452539,nssv452591,nssv452535,nssv452536,nssv452597,nssv452521,nssv452588,nssv452558,nssv452586,nssv452592,nssv452537,nssv452527,nssv452560,nssv452530,nssv452565,nssv452590,nssv452596,nssv452545,nssv452528,nssv452563,nssv452547,nssv452557,nssv452546,nssv452566,nssv452555,nssv452534,nssv452548,nssv452552,nssv452595,nssv452540,nssv452529,nssv452556,nssv452554 M 62 17 14 CXADRP2,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv817666 15 18421386 18452025 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417090,nssv1417160,nssv1416798 M 112 0 3 "" NA18529,NA18547,NA19159 nsv516518 15 18421386 21218853 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654094,nssv672811,nssv663041,nssv688121,nssv689081,nssv699766,nssv661349,nssv659526,nssv671291,nssv697701,nssv663884,nssv673373,nssv673602,nssv697325,nssv678593,nssv672069,nssv699489,nssv687398,nssv660890,nssv689853,nssv656328,nssv686418,nssv701089,nssv685512,nssv687690,nssv657964,nssv671930,nssv652045,nssv692834,nssv652550,nssv665384,nssv701673,nssv666781,nssv653042,nssv685242,nssv679375,nssv665261,nssv654150,nssv669449,nssv690394,nssv673649,nssv700921,nssv668473,nssv694794,nssv692242,nssv657380,nssv661674,nssv652014,nssv688329,nssv675054,nssv679825,nssv654427,nssv690306,nssv687633,nssv684781,nssv653950,nssv662488,nssv656880,nssv676258,nssv666391,nssv659714,nssv688186,nssv688879,nssv669094,nssv679495,nssv673705,nssv686617,nssv669189 M 2026 34 34 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,LOC283683,LOC348120,LOC646096,LOC646214,LOC653061,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 nsv827206 15 18425772 18458347 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422261 S 31 0 1 "" NA18547 dgv91e55 15 18427100 19464910 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751365,esv2751292,esv2751364,esv2751464,esv35163,esv2751293,esv2751294,esv2751295,esv2751296,esv2751297,esv2751366,esv2751369 M 771 12 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB BEC_337,BEC_343,BEC_40,BEC_411,BEC_584,BEC_687,BEC_701,BEC_730,NA11882,NA19194,SPC_128,SPC_184 dgv92e55 15 18427100 20089400 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35124,esv2751323,esv2751350,esv2751442,esv2751321,esv34567,esv2751391,esv2751318,esv34665,esv2751348,esv2751447,esv2751347,esv34448,esv2751317,esv2751336,esv2751345,esv2751313,esv2751302,esv2751312,esv2751311,esv2751396,esv34865,esv2751471,esv2751326,esv35066,esv2751466,esv2751381,esv2751440,esv34752,esv2751300,esv34796,esv34294,esv2751416,esv34956,esv2751441,esv2751384,esv34977,esv2751334,esv34622,esv2751461,esv34283,esv34197,esv2751430,esv34843,esv34600,esv34277,esv34765,esv2751459,esv2751380,esv2751407,esv2751438,esv2751443,esv34423,esv34205,esv34227,esv34229,esv34245,esv34278,esv34285,esv34336,esv34367,esv34377,esv34382,esv34405,esv34415,esv34424,esv34474,esv34501,esv34526,esv34533,esv34591,esv34632,esv34640,esv34658,esv34673,esv34679,esv34694,esv34696,esv34735,esv34789,esv34805,esv34815,esv34820,esv34827,esv34830,esv34845,esv34868,esv34874,esv34884,esv34911,esv34920,esv34930,esv34975,esv35040,esv35054,esv35076,esv35081,esv35090,esv35095,esv35160,esv35166,esv35172,esv2751298,esv2751299,esv2751301,esv2751303,esv2751304,esv2751305,esv2751306,esv2751307,esv2751308,esv2751309,esv2751310,esv2751314,esv2751315,esv2751316,esv2751319,esv2751320,esv2751322,esv2751324,esv2751325,esv2751327,esv2751328,esv2751329,esv2751330,esv2751331,esv2751332,esv2751333,esv2751335,esv2751337,esv2751338,esv2751339,esv2751340,esv2751341,esv2751342,esv2751343,esv2751344,esv2751346,esv2751349,esv2751377,esv2751378,esv2751379,esv2751389,esv2751390,esv2751392,esv2751393,esv2751394,esv2751395,esv2751397,esv2751398,esv2751399,esv2751400,esv2751401,esv2751402,esv2751403,esv2751404,esv2751405,esv2751406,esv2751408,esv2751414,esv2751415,esv2751417,esv2751418,esv2751428,esv2751429,esv2751435,esv2751439,esv2751460,esv2751465,esv2751470,esv2751472,esv2751477,esv34453 M 771 173 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 BEC_104,BEC_11,BEC_117,BEC_123,BEC_126,BEC_131,BEC_176,BEC_229,BEC_236,BEC_293,BEC_299,BEC_30,BEC_342,BEC_350,BEC_353,BEC_360,BEC_361,BEC_373,BEC_389,BEC_401,BEC_405,BEC_408,BEC_427,BEC_434,BEC_438,BEC_445,BEC_462,BEC_468,BEC_470,BEC_48,BEC_484,BEC_5,BEC_500,BEC_51,BEC_512,BEC_514,BEC_516,BEC_519,BEC_528,BEC_535,BEC_538,BEC_539,BEC_543,BEC_544,BEC_556,BEC_566,BEC_569,BEC_570,BEC_576,BEC_586,BEC_593,BEC_607,BEC_611,BEC_618,BEC_619,BEC_621,BEC_625,BEC_633,BEC_637,BEC_638,BEC_642,BEC_644,BEC_647,BEC_651,BEC_652,BEC_654,BEC_657,BEC_660,BEC_661,BEC_675,BEC_676,BEC_691,BEC_713,BEC_716,BEC_719,BEC_722,BEC_728,BEC_73,BEC_738,BEC_739,BEC_759,BEC_764,BEC_785,BEC_789,BEC_806,NA07000,NA07019,NA07022,NA07048,NA07055,NA07345,NA07357,NA10846,NA10854,NA10857,NA10859,NA10861,NA10863,NA11839,NA11992,NA11995,NA12004,NA12144,NA12145,NA12234,NA12716,NA12717,NA12753,NA12762,NA12812,NA12815,NA12864,NA12874,NA12875,NA15510,NA18500,NA18501,NA18516,NA18532,NA18545,NA18547,NA18564,NA18573,NA18582,NA18593,NA18594,NA18605,NA18620,NA18632,NA18633,NA18636,NA18637,NA18852,NA18854,NA18856,NA18863,NA18913,NA18964,NA18968,NA18973,NA18998,NA19005,NA19007,NA19012,NA19092,NA19098,NA19128,NA19144,NA19145,NA19201,NA19202,NA19203,NA19208,NA19210,NA19238,NA19239,NA19240,SPC_108,SPC_121,SPC_13,SPC_136,SPC_14,SPC_153,SPC_165,SPC_17,SPC_178,SPC_19,SPC_192,SPC_25,SPC_52,SPC_65,SPC_76,SPC_87 dgv93e55 15 18427100 20421205 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751451,esv2751473,esv34301,esv34361,esv34794,esv2751361,esv2751351,esv2751358,esv34219,esv34649,esv2751352,esv2751354,esv2751355,esv2751357,esv2751359,esv2751360,esv2751362,esv2751448,esv2751452,esv2751454,esv2751462,esv2751463,esv2751353 M 771 23 0 CXADRP2,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5 BEC_316,BEC_330,BEC_333,BEC_460,BEC_499,BEC_58,BEC_589,BEC_658,BEC_683,BEC_718,BEC_727,BEC_775,NA12043,NA18502,NA18861,NA18942,NA19100,NA19154,NA19207,SPC_118,SPC_129,SPC_147,SPC_4 dgv94e55 15 18427100 20773725 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751356,esv34963,esv2751455,esv34215,esv34536,esv34570,esv34573,esv34662,esv35144,esv2751449,esv2751450,esv2751453,esv2751456,esv2751457,esv2751458,esv2751478,esv2751486,esv2751487 M 771 0 18 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC283683,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 BEC_345,BEC_352,BEC_452,BEC_530,BEC_533,BEC_557,BEC_590,BEC_634,BEC_670,BEC_705,BEC_820,NA12003,NA12892,NA18506,NA18944,NA18991,SPC_113,SPC_71 esv2751363 15 18427100 21405800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984258,essv6988777,essv6984257,essv6984259,essv6984256 M 771 1 0 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,LOC283683,LOC348120,LOC646096,LOC646214,LOC653061,LOC727924,MIR4508,MIR4509-1,MIR4509-2,MIR4509-3,MKRN3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 BEC_681 dgv95e55 15 18427103 19464910 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35156,esv2751368,esv34769,esv35168,esv2751367,esv2751370,esv2751371 M 771 0 7 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB BEC_437,BEC_583,BEC_667,BEC_703,NA11830,NA18956,SPC_156 dgv96e55 15 18427103 20089400 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751480,esv2751383,esv34936,esv2751474,esv2751374,esv2751423,esv34993,esv2751436,esv2751481,esv2751445,esv34303,esv34212,esv2751468,esv2751411,esv2751479,esv2751484,esv34332,esv34333,esv35036,esv2751446,esv2751431,esv35107,esv2751419,esv35064,esv34537,esv2751427,esv34198,esv34366,esv34458,esv34459,esv34467,esv34496,esv34548,esv34590,esv34773,esv34859,esv34873,esv34908,esv34909,esv34921,esv35067,esv35155,esv35164,esv2751372,esv2751373,esv2751375,esv2751376,esv2751382,esv2751385,esv2751386,esv2751387,esv2751388,esv2751409,esv2751410,esv2751412,esv2751413,esv2751420,esv2751421,esv2751422,esv2751424,esv2751425,esv2751426,esv2751432,esv2751433,esv2751434,esv2751437,esv2751467,esv2751469,esv2751475,esv2751476,esv2751482,esv2751483,esv2751485,esv34780,esv2751444,esv34945 M 771 0 76 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 BEC_106,BEC_234,BEC_24,BEC_328,BEC_335,BEC_357,BEC_359,BEC_376,BEC_377,BEC_382,BEC_400,BEC_406,BEC_418,BEC_425,BEC_492,BEC_501,BEC_541,BEC_560,BEC_561,BEC_57,BEC_571,BEC_575,BEC_581,BEC_605,BEC_622,BEC_631,BEC_635,BEC_665,BEC_668,BEC_673,BEC_692,BEC_695,BEC_704,BEC_706,BEC_721,BEC_742,BEC_745,BEC_793,NA10856,NA11829,NA11832,NA11993,NA12239,NA12751,NA12878,NA12891,NA18572,NA18592,NA18872,NA18945,NA18967,NA18971,NA18972,NA18974,NA18990,NA18994,NA19102,NA19119,NA19127,NA19140,NA19159,NA19160,NA19161,NA19221,SPC_124,SPC_133,SPC_142,SPC_166,SPC_180,SPC_186,SPC_195,SPC_2,SPC_20,SPC_7,SPC_85,SPC_92 dgv2078n71 15 18430140 18456449 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902657,nsv902658,nsv902663 M 6533 0 8 "" SP50179,SP50925,SP52110,SP54078,SP54424,SP54559,SP57640,SP80936 nsv9179 15 18431298 20198407 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24928,nssv23308,nssv25644,nssv25003,nssv24917,nssv25552,nssv21798,nssv25403,nssv22598,nssv25621,nssv27007,nssv25666,nssv21530,nssv25428,nssv19639,nssv21738,nssv21246,nssv25575,nssv21326,nssv22187,nssv26947,nssv22139,nssv21346,nssv23196,nssv22568,nssv19180,nssv20182,nssv19931,nssv22447,nssv21216,nssv25270,nssv25320,nssv25090,nssv24953,nssv21784,nssv23168,nssv24017,nssv26957,nssv21114,nssv24844,nssv22169,nssv21483,nssv23140,nssv23224,nssv22687,nssv22269,nssv21904,nssv22537,nssv21596,nssv21386,nssv21678,nssv21560,nssv20152,nssv21506,nssv19549,nssv25529,nssv22329,nssv24942,nssv21805,nssv22449,nssv21376,nssv19519,nssv21566,nssv24837,nssv21496,nssv25295,nssv26997,nssv19150,nssv22920,nssv22477,nssv22199,nssv21453,nssv22299,nssv25115,nssv24873,nssv20702,nssv21024,nssv27047,nssv22628,nssv20552,nssv21648,nssv22155,nssv20032,nssv21204,nssv21186,nssv21536,nssv20762,nssv22157,nssv20462,nssv25028,nssv19811,nssv25065,nssv24071,nssv21096,nssv22127,nssv21513,nssv24848,nssv20612,nssv25483,nssv20642,nssv21363,nssv22804,nssv21470,nssv21618,nssv20062,nssv21708,nssv21126,nssv20492,nssv21356,nssv22978,nssv22891,nssv21500,nssv25195,nssv22185,nssv23960,nssv21036,nssv20122,nssv26925,nssv23252,nssv25245,nssv19595,nssv21144,nssv20994,nssv22716,nssv21466,nssv19060,nssv19210,nssv25220,nssv21174,nssv20212,nssv19669,nssv21054,nssv26987,nssv24116,nssv24044,nssv21814,nssv24978,nssv19609,nssv22833,nssv19120,nssv19841,nssv25598,nssv24812,nssv25506,nssv20522,nssv23280,nssv19270,nssv21835,nssv19901,nssv26936,nssv22509,nssv20582,nssv22775,nssv22862,nssv22359,nssv24862,nssv21476,nssv19961,nssv21724,nssv26914,nssv21156,nssv22479,nssv19781,nssv19579,nssv19871,nssv26977,nssv20672,nssv22215,nssv22658,nssv21865,nssv25015,nssv26967,nssv21844,nssv22949,nssv21874,nssv19240,nssv22507,nssv25040,nssv25140,nssv21895,nssv22389 M 31 20 25 Samples from several populations that are part of the HapMap project. CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv33668 15 18431802 18654240 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96268 S 51 1 0 "" 22371 nsv514761 15 18432262 18450110 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627148 S 1414 0 0 "" dgv2079n71 15 18432722 18485052 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902659,nsv902660 M 6533 0 7 "" SP50585,SP51486,SP54401,SP54635,SP54645,SP56185,SP56307 nsv902661 15 18432722 18530950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501714 S 6533 0 1 "" SP50870 dgv673e1 15 18446422 21241985 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5870,essv10315,essv16174 M 271 0 0 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P3,HERC2P7,LOC283683,LOC348120,LOC646096,LOC646214,LOC653061,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 NA18506,NA18555 nsv827207 15 18450362 18454987 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430154 S 31 0 1 "" AK14 nsv902664 15 18456449 18579277 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585500,nssv1584167,nssv1542620,nssv1547936,nssv1550099,nssv1593219,nssv1551664,nssv1601076,nssv1542660,nssv1553679 M 6533 1 9 "" IS36887,IS37480,IS39373,IS41966,MS15808,MS15826,MS17637,MS18290,MS18970,MS20239 dgv2080n71 15 18456449 18936560 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902667,nsv902675,nsv902666,nsv902665 M 6533 5 0 HERC2P3,LOC646096 IS37353,IS39341,IS41664,MS18130,SP50126 dgv2081n71 15 18456449 20306549 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902701,nsv902669,nsv902668,nsv902674,nsv902687,nsv902736,nsv902719,nsv902673 M 6533 9 0 CXADRP2,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 IS30694,IS31169,IS33192,IS33533,IS35717,IS35726,IS35782,IS40928,MS20957 esv1003563 15 18458661 18569427 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586253 S 3 0 1 "" HuRef nsv436198 15 18467492 19476778 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466790 S 2 0 1 Samples from several populations that are part of the HapMap project. CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB NA18505 nsv433425 15 18474541 18654006 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463306 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv902670 15 18474541 18708208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550905 S 6533 0 1 "" MS18652 nsv902671 15 18493451 18708208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566294 S 6533 1 0 "" IS30635 dgv2082n71 15 18493451 19322874 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902672,nsv902695,nsv902682 M 6533 3 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC646096,LOC646214,NBEAP1,POTEB IS30054,IS34599,IS38065 nsv832906 15 18496750 18637793 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451396,nssv1451402,nssv1451397,nssv1451401,nssv1451399,nssv1451398,nssv1451400,nssv1451403,nssv1451404,nssv1451409,nssv1451408,nssv1451407,nssv1451395 M 95 10 3 "" nsv7260 15 18507843 20333185 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5536,nssv9511,nssv4139,nssv10922,nssv9510,nssv10040,nssv10041,nssv2097,nssv1237,nssv9304,nssv10924,nssv9305,nssv6622,nssv5535,nssv1232,nssv1239,nssv5538,nssv10925,nssv6623,nssv1238 M 9 0 0 CXADRP2,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv1452 15 18515594 19126542 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10923,nssv10039,nssv2096,nssv9250,nssv1233,nssv1236 M 9 0 5 GOLGA6L6,GOLGA8C,HERC2P3,LOC646096 NA12156,NA15510,NA18555,NA18956,NA19240 dgv43n16 15 18526762 19660936 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436057,nsv436832 M 2 2 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB NA15510,NA18505 nsv821678 15 18526971 20225829 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421299,nssv1421294,nssv1421289,nssv1421296,nssv1421305,nssv1421293,nssv1421287,nssv1421297,nssv1421295,nssv1421307,nssv1421303,nssv1421292,nssv1421304,nssv1421300,nssv1421298,nssv1421288,nssv1421306,nssv1421301 M 31 0 18 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 nsv902676 15 18548292 18648981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576369 S 6533 1 0 "" IS34047 nsv902677 15 18548292 18822301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592689 S 6533 1 0 LOC646096 IS39243 nsv509560 15 18556428 18586445 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623669,nssv619666 M 4 2 0 "" NA10860,NA18994 nsv511555 15 18563089 18571434 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626180 S 1 0 1 "" 1 nsv832907 15 18585936 18814644 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451411,nssv1451415,nssv1451414,nssv1451416,nssv1451412,nssv1451413,nssv1451419,nssv1451418,nssv1451410 M 95 8 1 LOC646096 dgv674e1 15 18590230 18804305 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14986,essv2511,essv17587,essv3082 M 271 0 0 LOC646096 NA12762,NA18870,NA18969,NA19003 dgv675e1 15 18590230 18935829 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13866,essv21381,essv19398 M 271 0 0 HERC2P3,LOC646096 NA11840,NA12740,NA18854 dgv676e1 15 18590230 19139027 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24416,essv501,essv18981 M 271 0 0 GOLGA6L6,GOLGA8C,HERC2P3,LOC646096,NBEAP1 NA12005,NA12707,NA18952 dgv677e1 15 18590230 19257408 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7314,essv24961 M 271 0 0 GOLGA6L6,GOLGA8C,HERC2P3,LOC646096,LOC646214,NBEAP1 NA10839,NA18570 dgv678e1 15 18590230 20097557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3211,essv3662,essv3925,essv1024,essv12914,essv8222,essv5694,essv12838,essv17356,essv5666,essv2675,essv20811,essv13169,essv16571,essv4213,essv10498,essv18525,essv18476,essv17217,essv6117,essv6977,essv7294,essv16459,essv16220,essv1419,essv22762,essv3419,essv21339,essv14787,essv7622,essv16121,essv20648,essv13543,essv20855,essv3831,essv5784,essv1115,essv3612,essv1801 M 271 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA07019,NA10855,NA11829,NA11832,NA12763,NA12878,NA12892,NA18517,NA18532,NA18547,NA18550,NA18566,NA18582,NA18592,NA18605,NA18609,NA18857,NA18944,NA18945,NA18953,NA18964,NA18967,NA18969,NA18970,NA18971,NA18974,NA18991,NA19005,NA19094,NA19100,NA19102,NA19116,NA19120,NA19139,NA19143,NA19159,NA19160,NA19161,NA19193 dgv2083n71 15 18601221 18922271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902686,nsv902680,nsv902679,nsv902689,nsv902678,nsv902683,nsv902688,nsv902684,nsv902681 M 6533 22 0 HERC2P3,LOC646096 IS31166,IS31554,IS31576,IS31728,IS31766,IS32150,IS33292,IS33475,IS34361,IS40471,IS41950,MS11550,MS12211,MS17492,MS17869,MS19487,MS20037,MS25241,SP54635,SP55542,SP56143,SP81553 nsv902685 15 18622658 18902087 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547821,nssv1568636,nssv1559820,nssv1551665,nssv1585488,nssv1570953,nssv1593220,nssv1542420,nssv1527218,nssv1599015,nssv1571195,nssv1555790 M 6533 10 2 HERC2P3,LOC646096 IS31323,IS32365,IS32615,IS37471,IS39373,IS41128,MS15779,MS17572,MS18970,MS21558,MS24162,SP58241 nsv821092 15 18631114 18894182 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421108 S 1 1 0 HERC2P3,LOC646096 NA10851 dgv679e1 15 18652194 20457011 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18670,essv4521,essv2135,essv2732,essv1572,essv21585,essv9968,essv15907,essv14156,essv22802,essv5988,essv21369,essv7901,essv4313,essv11302,essv23997,essv20754,essv103,essv21592,essv14681,essv11386,essv13990,essv24548,essv16624,essv13707,essv8518,essv19482,essv9312,essv7975,essv20701,essv17379,essv2102,essv23055,essv10638,essv11470,essv6801,essv25100,essv9841,essv9560,essv23759,essv19337,essv15162,essv23705,essv16819,essv12064,essv8992,essv13271,essv6449,essv6931,essv14226,essv7442,essv21500,essv13492,essv721,essv1991,essv20498,essv14241,essv6101,essv5634,essv2414,essv6208,essv24734,essv21102,essv1651,essv979,essv13309,essv14036 M 271 0 0 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5 NA06985,NA07357,NA10854,NA10860,NA11829,NA11831,NA11994,NA12003,NA12056,NA12146,NA12155,NA12716,NA12740,NA12750,NA12753,NA12802,NA12812,NA12814,NA12874,NA18523,NA18552,NA18563,NA18564,NA18573,NA18579,NA18582,NA18592,NA18594,NA18608,NA18623,NA18852,NA18855,NA18856,NA18861,NA18862,NA18863,NA18872,NA18913,NA18914,NA18940,NA18942,NA18951,NA18959,NA18961,NA18964,NA18965,NA18978,NA18997,NA19005,NA19098,NA19100,NA19119,NA19127,NA19140,NA19144,NA19145,NA19194,NA19201,NA19202,NA19204,NA19205,NA19208,NA19210,NA19238,NA19239,NA19240 dgv414n67 15 18654218 18886866 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827209,nsv827210 M 31 7 0 HERC2P3,LOC646096 NA18526,NA18564,NA18570,NA18592,NA18947,NA18972,NA18997 esv32840 15 18654240 18672590 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98379 S 51 0 1 "" 22352 esv33051 15 18657417 20249915 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101558,essv101489,essv98909,essv97484,essv101139,essv93863,essv100751,essv96865,essv101050,essv95095,essv95123,essv98186,essv94046,essv101393,essv96908,essv97919,essv95570,essv95473,essv93014,essv95327,essv95255,essv95277,essv97327,essv101633,essv101744,essv95884,essv94646,essv94596,essv98999,essv92872,essv92948,essv92762,essv92773,essv93669,essv93776,essv96214,essv96580,essv97095,essv98612,essv100014,essv100091,essv99979,essv99955,essv99814,essv95947,essv93575,essv93488,essv93208,essv99590,essv94889,essv94996,essv95021,essv92665,essv92522,essv98056,essv96561,essv99307,essv99165,essv97734,essv100197,essv100602,essv100499,essv100357,essv100302,essv99544,essv98486,essv94289 M 51 5 46 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21802,21805,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22394 dgv2084n71 15 18708208 18936560 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902690,nsv902692,nsv902699,nsv902691,nsv902696,nsv902698 M 6533 27 0 HERC2P3,LOC646096 IS30645,IS31000,IS33622,IS33894,IS34895,IS37480,IS39923,IS41193,MS10126,MS10544,MS12005,MS13169,MS13400,MS13548,MS13770,MS16309,MS16968,MS17164,MS17678,MS17849,MS20725,MS25190,MS25306,SP50159,SP54430,SP54761,SP57348 dgv2085n71 15 18708208 18966049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902694,nsv902693 M 6533 0 3 HERC2P3,LOC646096 MS13240,MS18965,MS20073 nsv433426 15 18708208 19031743 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463307 S 9 1 0 Samples from several populations that are part of the HapMap project. GOLGA6L6,GOLGA8C,HERC2P3,LOC646096 NA19240 dgv680e1 15 18711364 18876685 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv962,essv8511 M 271 0 0 HERC2P3,LOC646096 NA18854,NA18981 esv1531420 15 18712667 18712667 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954068 S 2 1 0 "" HuRef nsv902697 15 18721868 18887141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512547 S 6533 0 1 HERC2P3,LOC646096 SP55553 dgv415n67 15 18722395 18886866 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827212,nsv827211 M 31 3 0 HERC2P3,LOC646096 NA18582,NA18968,NA18973 dgv416n67 15 18737663 18835860 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827214,nsv827213 M 31 2 0 LOC646096 AK20,NA18969 esv1979173 15 18738223 18738659 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594602 S 1 0 1 "" NA18507 nsv1453 15 18742383 18772949 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5533 S 9 1 0 LOC646096 NA19129 essv17110 15 18747225 19014108 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GOLGA6L6,HERC2P3,LOC646096 NA19171 dgv681e1 15 18747225 19484504 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2185,essv17589,essv5562,essv13622,essv21744,essv10248,essv9048,essv14834,essv8341,essv23568,essv10871,essv11144 M 271 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646096,LOC646214,NBEAP1,NF1P2,POTEB NA06993,NA10861,NA12762,NA18529,NA18858,NA18871,NA18960,NA19119,NA19127,NA19132,NA19152,NA19211 dgv2086n71 15 18752062 18907667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902700,nsv902712,nsv902703 M 6533 0 3 HERC2P3,LOC646096 MS20239,SP52299,SP54095 esv1004935 15 18758683 18759293 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563711 S 3 1 0 "" HuRef nsv902704 15 18766242 18902087 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508560,nssv1515833,nssv1516778 M 6533 2 1 HERC2P3 SP54725,SP56289,SP56927 dgv2087n71 15 18766242 18922271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902708,nsv902714,nsv902711,nsv902702,nsv902713 M 6533 5 0 HERC2P3 MS16477,SP50882,SP56549,SP57430,SP81243 dgv2088n71 15 18788683 18861491 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902705,nsv902706 M 6533 2 0 "" SP52113,SP55971 dgv2089n71 15 18788683 18902087 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902707,nsv902710,nsv902709 M 6533 11 21 HERC2P3 SP50074,SP50081,SP50118,SP50179,SP50631,SP50690,SP50921,SP50936,SP50954,SP50979,SP50997,SP50998,SP51069,SP51175,SP51338,SP51483,SP51489,SP54189,SP54367,SP54383,SP54581,SP54636,SP54790,SP54956,SP55021,SP55548,SP55748,SP55992,SP56224,SP56832,SP56848,SP57250 nsv902715 15 18788683 18966049 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593202 S 6533 1 0 HERC2P3 IS39369 nsv902716 15 18788683 18974588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538873 S 6533 0 1 HERC2P3 MS13795 nsv902717 15 18788683 19276020 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548192 S 6533 1 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC646214,NBEAP1 MS17730 dgv2090n71 15 18788683 19556128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902718,nsv902734,nsv902735 M 6533 3 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS34353,MS19756,SP50543 nsv1454 15 18795529 18825649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6620,nssv1235,nssv2094,nssv4138,nssv5534 M 9 5 0 "" NA12156,NA12878,NA18555,NA19129,NA19240 nsv819770 15 18801692 19870262 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418809 S 2 1 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,POTEB AK1 esv5154 15 18805770 18807738 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27595 S 1 0 0 Single Asian sample YH "" YH esv998961 15 18809408 18970195 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586355 S 3 0 1 HERC2P3 HuRef dgv417n67 15 18809804 18886866 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827216,nsv827215 M 31 2 0 HERC2P3 AK8,NA18942 dgv682e1 15 18809823 19164450 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9533,essv10703,essv11335,essv12010,essv8665,essv12106,essv11393,essv8704,essv15188 M 271 0 0 GOLGA6L6,GOLGA8C,HERC2P3,NBEAP1 NA18504,NA18508,NA19101,NA19128,NA19141,NA19173,NA19192,NA19200,NA19223 esv29956 15 18810051 19465418 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84195 S 3 0 1 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB WATSON nsv514762 15 18810654 18897814 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627149 S 1414 0 0 HERC2P3 dgv2091n71 15 18811937 18887141 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902720,nsv902721,nsv902727,nsv902737,nsv902728 M 6533 24 14 HERC2P3 SP50085,SP50102,SP50129,SP50761,SP50802,SP51419,SP51460,SP52051,SP52101,SP52255,SP52497,SP53402,SP54042,SP54373,SP54575,SP54666,SP54704,SP54760,SP54774,SP55195,SP55791,SP56007,SP56041,SP56106,SP56126,SP56172,SP56200,SP56248,SP56260,SP56457,SP56734,SP56887,SP56959,SP56965,SP57268,SP58557,SP80930,SP81010 dgv2092n71 15 18811937 18902087 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902722,nsv902729,nsv902738,nsv902733 M 6533 9 0 HERC2P3 SP51022,SP51025,SP52117,SP53036,SP54680,SP55803,SP56047,SP80948,SP81074 essv23303 15 18812205 18846941 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12264 esv988919 15 18816444 19438545 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586017 S 3 0 1 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB HuRef dgv8n14 15 18818086 18887141 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433279,nsv433280 M 9 0 2 HERC2P3 NA12878,NA18555 dgv2093n71 15 18818086 18907667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902730,nsv902723 M 6533 0 2 HERC2P3 SP50679,SP55287 nsv902724 15 18822301 18861491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515683,nssv1518707 M 6533 0 2 "" SP56246,SP57925 dgv2094n71 15 18822301 18869773 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902726,nsv902725 M 6533 3 0 "" SP50562,SP51206,SP52925 nsv902731 15 18822301 18922271 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543081,nssv1564969 M 6533 2 0 HERC2P3 IS30325,MS16039 nsv902732 15 18822301 18945950 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591080,nssv1551043 M 6533 1 1 HERC2P3 IS38633,MS18747 essv5421 15 18824589 18873066 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18542 nsv96 15 18835203 18867788 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv96 S 1 0 1 "" NA15510 essv13239 15 18838769 18850150 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19131 esv2633447 15 18840772 18850341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242613 S 1 0 1 "" NA18507 esv996226 15 18841051 18849748 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565569 S 3 0 1 "" HuRef nsv512384 15 18841439 18849934 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624972 S 1 0 1 "" 1 dgv22n47 15 18841477 18849646 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498837,nsv498838 M 9 0 2 "" nsv435656 15 18841512 18850594 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466793 S 2 0 1 "" NA15510 nsv436197 15 18843642 18849941 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466795 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv438266 15 18844049 18848719 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470655,nssv470649,nssv470651,nssv470654,nssv470653,nssv470650 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA07345,NA10856,NA11829,NA11832,NA12873,NA12874 dgv2095n71 15 18845412 18887141 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902744,nsv902740,nsv902739,nsv902746,nsv902743,nsv902747 M 6533 14 16 HERC2P3 SP50038,SP50107,SP50120,SP50532,SP50783,SP50826,SP50973,SP51016,SP51486,SP52055,SP52582,SP52772,SP52858,SP53687,SP53719,SP54127,SP54579,SP54875,SP55586,SP55847,SP55937,SP56089,SP56173,SP56197,SP56373,SP56971,SP57270,SP57299,SP57485,SP57754 esv2751488 15 18846941 19464910 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989710,essv6982952 M 771 0 1 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB BEC_529 dgv2096n71 15 18850028 18887141 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902741,nsv902752,nsv902742 M 6533 5 0 HERC2P3 SP52493,SP53473,SP56976,SP80977,SP81073 nsv902745 15 18851201 18902087 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509404 S 6533 1 0 HERC2P3 SP54782 dgv2097n71 15 18851893 18966049 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902749,nsv902748 M 6533 3 0 HERC2P3 IS36752,MS15571,MS15940 nsv902750 15 18851893 19116489 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576632 S 6533 1 0 GOLGA6L6,GOLGA8C,HERC2P3 IS34185 essv1841 15 18854615 19014108 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GOLGA6L6,HERC2P3 NA18976 nsv902751 15 18854979 18887141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500109 S 6533 0 1 HERC2P3 SP50029 nsv94536 15 18869608 18869608 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113114 M 24 "" dgv1n1 15 18870124 20077222 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis nsv97,nsv98 M 1 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA15510 esv6472 15 18883330 18883432 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28913 S 1 1 0 HERC2P3 SJK esv1004259 15 18888223 20099321 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565264 S 3 0 0 CXADRP2,GOLGA6L6,GOLGA8C,HERC2P3,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 HuRef nsv832908 15 18898414 19048601 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451421,nssv1451420 M 95 2 0 GOLGA6L6,GOLGA8C,HERC2P3 nsv514763 15 18910264 18970070 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627150 S 1414 0 0 HERC2P3 dgv28n68 15 18964502 19133581 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832910,nsv832909 M 95 20 5 GOLGA6L6,GOLGA8C,HERC2P3 esv21579 15 18972630 19663437 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14372,esv12278,esv17063,esv17119,esv17548,esv16314,esv16440,esv13543,esv20371,esv21239,esv17752,esv9817,esv10548,esv19000,esv15635,esv16170,esv14174,esv16852,esv11764,esv10245,esv12207,esv14979,esv16381,esv17090,esv11656,esv18557,esv15461 M 451 21 17 CXADRP2,GOLGA6L6,GOLGA8C,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB NA06985,NA07037,NA07045,NA11894,NA11931,NA12004,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 dgv44n16 15 18983567 21064143 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436056,nsv436834 M 2 2 0 CXADRP2,CYFIP1,GOLGA6L1,GOLGA6L6,GOLGA8C,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 NA15510,NA18505 nsv482173 15 18997108 19007128 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558534 S 1 1 0 GOLGA6L6 KB1 nsv902754 15 18999782 19561820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541338 S 6533 0 1 CXADRP2,GOLGA6L6,GOLGA8C,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB MS15269 dgv2098n71 15 18999782 19580344 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902784,nsv902783,nsv902789,nsv902756,nsv902753 M 6533 7 0 CXADRP2,GOLGA6L6,GOLGA8C,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS32714,IS36722,IS38598,MS12640,MS22268,MS25432,SP56832 dgv2099n71 15 19011239 19223739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902808,nsv902755 M 6533 0 2 GOLGA8C,LOC646214,NBEAP1 MS18290,SP55748 dgv2100n71 15 19031743 19170114 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902798,nsv902797,nsv902799,nsv902757 M 6533 39 13 GOLGA8C,NBEAP1 IS30319,IS30635,IS32429,IS33070,IS33868,IS34772,IS38336,MS10065,MS11307,MS15206,MS15340,MS16693,MS19486,MS20967,MS22076,MS26001,SP50058,SP50520,SP50521,SP50528,SP50644,SP50963,SP50979,SP50998,SP52035,SP52095,SP52772,SP53349,SP53528,SP53969,SP54544,SP54561,SP54580,SP54665,SP54680,SP55451,SP55610,SP55611,SP56089,SP56125,SP56126,SP56845,SP56886,SP56926,SP56959,SP56976,SP57067,SP57208,SP57254,SP57268,SP57690,SP81265 dgv2101n71 15 19031743 19228416 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902807,nsv902801,nsv902804,nsv902802,nsv902759,nsv902760,nsv902758,nsv902761,nsv902762 M 6533 178 141 GOLGA8C,LOC646214,NBEAP1 IS30148,IS30189,IS30201,IS30226,IS30284,IS30317,IS30384,IS30455,IS30487,IS30508,IS30605,IS31062,IS31096,IS31154,IS31396,IS31401,IS31656,IS31729,IS31816,IS31879,IS32666,IS32679,IS32868,IS32999,IS33040,IS33178,IS33711,IS33788,IS33839,IS33894,IS34047,IS34134,IS34312,IS34405,IS34912,IS34954,IS35196,IS35428,IS35475,IS35484,IS35523,IS35877,IS36316,IS36423,IS36460,IS36752,IS37149,IS37194,IS37471,IS37520,IS37713,IS37817,IS37860,IS37993,IS38098,IS38116,IS38119,IS38144,IS38153,IS38226,IS38237,IS38268,IS38285,IS38379,IS38395,IS38397,IS38411,IS38494,IS38511,IS38549,IS38602,IS38611,IS38654,IS38959,IS39258,IS39394,IS39400,IS39888,IS39929,IS39971,IS40023,IS40188,IS40248,IS40304,IS40368,IS40440,IS40473,IS40490,IS40673,IS40748,IS40886,IS40925,IS40989,IS41034,IS41112,IS41179,IS41192,IS41331,IS41347,IS41404,IS41724,IS41768,IS41782,IS41788,IS41801,IS41871,MS10166,MS10666,MS10698,MS10816,MS10871,MS11031,MS11097,MS11157,MS11194,MS11326,MS11481,MS11715,MS12138,MS12170,MS12211,MS12577,MS12688,MS12859,MS12860,MS12883,MS12886,MS13179,MS13207,MS13241,MS13512,MS13793,MS13810,MS14164,MS14305,MS14313,MS14421,MS14451,MS14469,MS14724,MS14728,MS14978,MS14986,MS15030,MS15050,MS15212,MS15220,MS15385,MS15392,MS15502,MS15748,MS15841,MS15925,MS16078,MS16268,MS16355,MS16447,MS16573,MS16728,MS16772,MS16792,MS16852,MS16981,MS17019,MS17028,MS17148,MS17164,MS17278,MS17321,MS17554,MS17599,MS17723,MS17906,MS17964,MS18261,MS18510,MS18540,MS18947,MS19489,MS19698,MS19771,MS20008,MS20039,MS20860,MS20969,MS21036,MS21071,MS21309,MS21356,MS21628,MS21677,MS21717,MS22273,MS22343,MS22492,MS22787,MS22789,MS22999,MS23401,MS23487,MS23650,MS23685,MS23875,MS23958,MS24374,MS24419,MS24444,MS24533,MS24624,MS24839,MS24940,MS24997,MS25112,MS25223,MS25369,MS25414,MS25439,MS25451,MS25690,MS25917,MS25966,MS26050,SP50025,SP50081,SP50085,SP50107,SP50145,SP50537,SP50660,SP50679,SP50692,SP50830,SP50836,SP50921,SP50973,SP50997,SP51030,SP51054,SP51188,SP51206,SP51254,SP51259,SP51398,SP51436,SP51460,SP51486,SP52052,SP52234,SP52364,SP52365,SP52400,SP52427,SP52593,SP52716,SP52829,SP52863,SP53083,SP53392,SP53560,SP53572,SP53685,SP53725,SP54047,SP54078,SP54190,SP54286,SP54370,SP54383,SP54581,SP54760,SP54956,SP54966,SP55134,SP55195,SP55287,SP55295,SP55473,SP55494,SP55511,SP55542,SP55548,SP55551,SP55652,SP56007,SP56086,SP56106,SP56215,SP56373,SP56387,SP56400,SP56582,SP56658,SP56758,SP56777,SP56788,SP56816,SP56851,SP56882,SP56909,SP57008,SP57113,SP57176,SP57348,SP57379,SP57574,SP57852,SP57951,SP58205,SP58409,SP58467,SP80916,SP80947,SP81010,SP81020,SP81189,SP81203,SP81326,SP81383,SP81508 dgv2102n71 15 19031743 19313395 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902812,nsv902810,nsv902813,nsv902764 M 6533 0 4 CXADRP2,GOLGA8C,LOC646214,NBEAP1,POTEB MS18553,SP51069,SP54725,SP55553 dgv2103n71 15 19031743 19322874 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902767,nsv902809,nsv902834,nsv902765,nsv902766,nsv902763 M 6533 37 29 CXADRP2,GOLGA8C,LOC646214,NBEAP1,POTEB IS30520,IS31155,IS32150,IS32166,IS33076,IS33508,IS34207,IS35287,IS35299,IS35499,IS36049,IS36050,IS36244,IS36656,IS37404,IS37480,IS37687,IS37789,IS38231,IS38350,IS39360,IS39745,IS39832,IS40055,IS40429,IS41875,IS41934,MS10591,MS11241,MS14284,MS14818,MS15097,MS15808,MS16124,MS17680,MS17739,MS18130,MS18747,MS18946,MS18993,MS20120,MS20170,MS21124,MS22863,MS23587,MS23725,MS24749,MS25765,MS25782,SP50159,SP50754,SP51051,SP51175,SP51234,SP52299,SP54108,SP54968,SP55165,SP55655,SP55717,SP55986,SP57368,SP80924,SP80977,SP81106,SP81333 dgv2104n71 15 19031743 19402778 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902773,nsv902777 M 6533 0 2 CXADRP2,GOLGA8C,LOC646214,NBEAP1,NF1P2,POTEB IS32719,IS38419 dgv2105n71 15 19031743 19406459 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902778,nsv902775 M 6533 5 3 CXADRP2,GOLGA8C,LOC646214,NBEAP1,NF1P2,POTEB IS35083,IS38603,MS11554,MS18274,MS22952,MS22959,MS24747,SP52816 dgv2106n71 15 19031743 19448462 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902779,nsv902770,nsv902817,nsv902780,nsv902819,nsv902776,nsv902815,nsv902774,nsv902772,nsv902816,nsv902818,nsv902814,nsv902768,nsv902769,nsv902771 M 6533 35 0 CXADRP2,GOLGA8C,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS30516,IS30883,IS31554,IS31812,IS33406,IS34400,IS35279,IS35954,IS37393,IS38123,IS38126,IS38652,IS39116,IS39931,MS10241,MS13068,MS17624,MS17830,MS19321,MS22166,MS22728,MS24052,MS25219,MS25330,MS25789,SP50116,SP50783,SP50882,SP52523,SP53458,SP53933,SP54774,SP56549,SP56848,SP58241 dgv2107n71 15 19031743 19561820 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902785,nsv902821,nsv902786,nsv902781,nsv902823,nsv902788,nsv902820,nsv902787,nsv902882,nsv902915,nsv902926,nsv902782,nsv902932,nsv902846 M 6533 85 55 CXADRP2,GOLGA8C,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS30097,IS30141,IS30238,IS30467,IS30826,IS31133,IS31546,IS31587,IS31693,IS31747,IS32653,IS32803,IS32990,IS33175,IS33240,IS33292,IS33531,IS33558,IS33772,IS33830,IS34422,IS34477,IS34789,IS35078,IS35244,IS35280,IS35768,IS37098,IS37577,IS37702,IS37778,IS37866,IS38293,IS38322,IS38736,IS38846,IS38962,IS39320,IS39528,IS40046,IS40267,IS40296,IS40347,IS40374,IS40396,IS40471,IS40482,IS40573,IS40606,IS41497,IS41648,IS41729,IS41983,MS10104,MS10203,MS10983,MS11137,MS11338,MS11726,MS12262,MS12266,MS12353,MS12718,MS13240,MS13292,MS13629,MS13795,MS14289,MS14330,MS14354,MS15312,MS15487,MS15704,MS15737,MS15817,MS15826,MS16049,MS16323,MS16537,MS16611,MS16824,MS16926,MS16986,MS17527,MS17869,MS17878,MS18387,MS18400,MS18406,MS18830,MS19119,MS19159,MS19340,MS20196,MS20204,MS20239,MS20367,MS21294,MS22103,MS22465,MS22568,MS23191,MS23709,MS24250,MS24365,MS24528,MS24651,MS25193,MS25902,MS25976,SP50099,SP50179,SP50690,SP50746,SP50809,SP50954,SP51178,SP51235,SP51338,SP51419,SP51483,SP52101,SP52341,SP52412,SP53972,SP54189,SP54405,SP54430,SP55167,SP55200,SP55565,SP56143,SP56200,SP56224,SP56381,SP56457,SP56843,SP56927,SP56971,SP58553 dgv2108n71 15 19031743 20080112 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902948,nsv902790,nsv902885,nsv902793,nsv902907,nsv902960,nsv902849 M 6533 7 0 CXADRP2,GOLGA8C,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 IS30553,IS31581,IS31679,IS33580,IS35572,IS38335,MS18251 dgv2109n71 15 19031743 20080112 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902792,nsv902794,nsv902791 M 6533 4 3 CXADRP2,GOLGA8C,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 IS30589,IS37841,IS39373,MS13757,MS16039,MS18970,MS20073 dgv2110n71 15 19031743 20314760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902795,nsv902967,nsv902824,nsv902886,nsv902850,nsv902796 M 6533 9 0 CXADRP2,GOLGA6L1,GOLGA8C,GOLGA8DP,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 IS31369,IS31728,IS33665,IS37353,IS38436,IS39369,MS15779,SP52694,SP54635 dgv2111n71 15 19031839 19205581 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902806,nsv902805,nsv902800,nsv902803 M 6533 7 0 GOLGA8C,LOC646214,NBEAP1 SP51022,SP52077,SP52082,SP52431,SP55971,SP57217,SP80948 nsv902811 15 19031839 19286256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499497 S 6533 1 0 CXADRP2,GOLGA8C,LOC646214,NBEAP1 SP50117 dgv2112n71 15 19031839 19580344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902884,nsv902841,nsv902822,nsv902944 M 6533 0 4 CXADRP2,GOLGA8C,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS41966,MS10957,MS20237,SP54367 dgv683e1 15 19050502 19484504 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8825,essv13795,essv10099,essv23222,essv4851,essv4015,essv6888,essv15627,essv13479,essv17065,essv19170,essv17718,essv22090,essv19788,essv2057,essv2863,essv8463,essv3724,essv11785 M 271 0 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB NA07029,NA10835,NA12154,NA12865,NA12872,NA18504,NA18508,NA18516,NA18540,NA18605,NA18912,NA18947,NA18949,NA18953,NA18970,NA19130,NA19153,NA19172,NA19192 dgv684e1 15 19050502 20097557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24470,essv12528,essv3448,essv11270,essv20413,essv22453,essv4584,essv5838,essv9460,essv21051,essv7552,essv3893,essv4131,essv22407,essv18081,essv1525,essv21788,essv5416,essv21442,essv18865,essv16500,essv3300,essv6308,essv1773,essv22632,essv5166,essv24953,essv11887,essv6046,essv22872,essv4038,essv6229,essv6389,essv11051,essv19939,essv21156,essv18107,essv15360,essv5737,essv7686,essv12174,essv16376,essv2316,essv18766,essv6710,essv5186,essv17625,essv22319,essv24561,essv23452,essv24818,essv17431,essv3118,essv22205 M 271 0 0 CXADRP2,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA06985,NA06991,NA10830,NA10854,NA10860,NA10861,NA11992,NA11993,NA12043,NA12044,NA12056,NA12145,NA12239,NA12707,NA12717,NA12751,NA12752,NA12753,NA12760,NA12761,NA12813,NA12815,NA12874,NA18524,NA18545,NA18555,NA18563,NA18564,NA18572,NA18593,NA18603,NA18608,NA18609,NA18611,NA18633,NA18635,NA18636,NA18862,NA18940,NA18956,NA18969,NA18972,NA18980,NA18994,NA18997,NA19101,NA19143,NA19172,NA19204,NA19207,NA19208,NA19210,NA19221 nsv832911 15 19068207 19237787 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451468,nssv1451457,nssv1451449,nssv1451452,nssv1451469,nssv1451456,nssv1451455,nssv1451453,nssv1451454,nssv1451460,nssv1451459,nssv1451466,nssv1451465,nssv1451464,nssv1451462,nssv1451471,nssv1451470,nssv1451475,nssv1451476,nssv1451474,nssv1451473,nssv1451463,nssv1451482,nssv1451479,nssv1451477,nssv1451478,nssv1451481,nssv1451480,nssv1451467,nssv1451484,nssv1451451,nssv1451458 M 95 26 6 LOC646214,NBEAP1 dgv2113n71 15 19095051 19212282 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902827,nsv902826,nsv902825,nsv902829,nsv902828 M 6533 22 0 LOC646214,NBEAP1 IS30127,IS30149,IS30435,IS31082,IS31543,IS37157,IS39687,IS41895,IS41939,MS10825,MS12017,MS13362,MS13932,MS14334,MS16493,MS17973,MS20717,MS22886,SP50622,SP54461,SP55426,SP57430 dgv2114n71 15 19095051 19266749 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902854,nsv902897,nsv902830,nsv902832,nsv902865,nsv902833,nsv902831 M 6533 12 0 LOC646214,NBEAP1 IS30771,IS31800,IS33544,IS35633,IS38254,IS39660,IS39672,MS17902,SP55671,SP55787,SP56185,SP81073 nsv433281 15 19095051 19311292 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463162 S 9 0 1 Samples from several populations that are part of the HapMap project. CXADRP2,LOC646214,NBEAP1,POTEB NA18956 dgv2115n71 15 19095051 19341464 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902870,nsv902869,nsv902835,nsv902871,nsv902836 M 6533 10 0 CXADRP2,LOC646214,NBEAP1,POTEB IS30388,IS30597,IS30838,IS31722,IS36981,IS41204,MS16656,MS25699,SP52298,SP54401 dgv2116n71 15 19095051 19448462 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902873,nsv902872,nsv902837,nsv902840,nsv902838,nsv902839,nsv902875 M 6533 9 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS31233,IS33162,IS33797,IS37884,IS38072,IS41068,MS18715,MS20346,SP57540 nsv819612 15 19095051 19456317 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418879 S 2 1 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB AK1 dgv2117n71 15 19095051 19580344 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902842,nsv902880,nsv902877,nsv902883,nsv902881,nsv902843,nsv902848,nsv902845,nsv902847,nsv902879,nsv902844 M 6533 14 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS36876,IS37040,IS37291,IS38378,IS40942,IS41830,MS10510,MS15078,MS23486,SP51489,SP52627,SP54891,SP55684,SP81556 dgv418n67 15 19108291 19466932 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827218,nsv827217,nsv827220 M 31 15 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB AK18,AK2,AK8,NA18526,NA18547,NA18564,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18972,NA18973,NA18997 dgv2118n71 15 19109094 19183352 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902855,nsv902851,nsv902887,nsv902891 M 6533 5 0 NBEAP1 SP50043,SP52109,SP54761,SP55834,SP80988 dgv2119n71 15 19109094 19218111 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902857,nsv902863,nsv902853,nsv902852,nsv902861,nsv902860,nsv902859 M 6533 24 0 LOC646214,NBEAP1 IS30504,IS36064,IS36563,IS38263,IS40834,IS41863,MS13548,MS17665,MS20459,MS23724,SP51244,SP52940,SP53402,SP54049,SP54875,SP54979,SP55056,SP55257,SP55642,SP57045,SP57701,SP81074,SP81324,SP81440 esv2751489 15 19112164 20773725 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987481,essv6984031,essv6988745,essv6984032,essv6984033 M 771 1 0 CXADRP2,CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 BEC_755 dgv2120n71 15 19116489 19205581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902858,nsv902889,nsv902856 M 6533 0 3 LOC646214,NBEAP1 SP50074,SP54790,SP57443 dgv2121n71 15 19116489 19228416 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902862,nsv902890,nsv902864 M 6533 12 9 LOC646214,NBEAP1 IS32992,IS35245,IS35445,IS35924,IS38228,IS38251,IS40862,IS41180,MS15092,MS17798,MS18799,MS21225,MS21528,MS21866,MS23194,MS23472,SP50129,SP50552,SP57061,SP58305,SP81403 dgv2122n71 15 19116489 19276020 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902866,nsv902868 M 6533 5 2 CXADRP2,LOC646214,NBEAP1 IS32744,MS17605,MS18756,MS19502,MS21937,MS22146,SP55209 dgv2123n71 15 19116489 19276020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902867,nsv902937 M 6533 0 2 CXADRP2,LOC646214,NBEAP1 IS30412,IS35548 dgv2124n71 15 19116489 19416328 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902874,nsv902914 M 6533 3 2 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS31651,IS35566,IS38575,IS40944,MS22754 dgv2125n71 15 19116489 19494732 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902876,nsv902906,nsv902878 M 6533 8 3 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS30960,IS31285,IS31768,IS32517,IS33073,IS38579,IS40072,IS41979,MS16283,MS19437,MS24865 dgv2126n71 15 19122482 19212282 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902888,nsv902892,nsv902896,nsv902895,nsv902893,nsv902894 M 6533 10 0 LOC646214,NBEAP1 SP50125,SP51413,SP52019,SP52255,SP52728,SP52914,SP55820,SP57292,SP57754,SP57941 dgv685e1 15 19128165 19178275 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6843,essv24347 M 271 0 0 NBEAP1 NA10839,NA18558 dgv686e1 15 19128165 20335459 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12092,essv19719,essv8539,essv11341,essv7963,essv10713,essv13221,essv19026,essv20479,essv9271,essv25186,essv9476,essv23736,essv11409,essv8656,essv24346,essv19820 M 271 0 0 CXADRP2,GOLGA6L1,GOLGA8DP,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA07034,NA10839,NA10847,NA11840,NA12236,NA12249,NA12813,NA18503,NA18508,NA19099,NA19101,NA19120,NA19128,NA19137,NA19154,NA19192,NA19203 nsv832912 15 19133582 19307109 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451489,nssv1451486,nssv1451498,nssv1451485,nssv1451488,nssv1451487,nssv1451490,nssv1451491,nssv1451497,nssv1451496,nssv1451492,nssv1451495,nssv1451493,nssv1451499,nssv1451502,nssv1451500,nssv1451501,nssv1451506,nssv1451507,nssv1451504,nssv1451503 M 95 18 3 CXADRP2,LOC646214,NBEAP1,POTEB dgv97e55 15 19139652 20329239 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34751,esv34813,esv34902,esv35110,esv2751491 M 771 0 5 CXADRP2,GOLGA6L1,GOLGA8DP,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 BEC_458,NA10831,NA12813,NA18515,NA18987 dgv2127n71 15 19142068 19197339 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902898,nsv902899 M 6533 3 0 LOC646214,NBEAP1 SP50144,SP52588,SP54384 dgv2128n71 15 19142068 19286256 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902940,nsv902951,nsv902900,nsv902909 M 6533 5 0 CXADRP2,LOC646214,NBEAP1 SP54516,SP54620,SP55611,SP56965,SP57208 dgv2129n71 15 19146619 19212282 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902902,nsv902901 M 6533 5 2 LOC646214,NBEAP1 IS32664,IS41009,MS12812,MS14683,MS16117,MS18217,MS25633 dgv2130n71 15 19146619 19257404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902939,nsv902950,nsv902908,nsv902903,nsv902911 M 6533 5 0 LOC646214,NBEAP1 MS16607,MS23152,SP54782,SP55660,SP55791 dgv2131n71 15 19146619 19448462 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902920,nsv902964,nsv902905,nsv902904,nsv902956,nsv902923,nsv902921,nsv902955,nsv902963,nsv902954 M 6533 10 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS30081,IS32365,IS33837,IS35441,IS35667,IS36512,MS17562,MS18211,MS19420,SP56640 nsv832913 15 19148282 19316549 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451517,nssv1451516,nssv1451520,nssv1451515,nssv1451522,nssv1451519,nssv1451518,nssv1451521,nssv1451514,nssv1451523,nssv1451525,nssv1451524,nssv1451513,nssv1451508,nssv1451509,nssv1451512,nssv1451511,nssv1451510 M 95 18 0 CXADRP2,LOC646214,NBEAP1,POTEB dgv2132n71 15 19154195 19227219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902949,nsv902910,nsv902934 M 6533 0 3 LOC646214,NBEAP1 MS16752,SP50979,SP56734 dgv2133n71 15 19154195 19341464 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902942,nsv902912,nsv902919,nsv902935,nsv902928,nsv902927 M 6533 6 0 CXADRP2,LOC646214,NBEAP1,POTEB IS33196,IS34698,MS13867,MS14384,SP50562,SP54993 dgv2134n71 15 19154195 19365466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902913,nsv902962,nsv902953,nsv902941 M 6533 0 4 CXADRP2,LOC646214,NBEAP1,POTEB IS38525,MS16406,MS19843,MS19891 dgv2135n71 15 19154195 19580344 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902936,nsv902946,nsv902945,nsv902959,nsv902943,nsv902957,nsv902958,nsv902931,nsv902924,nsv902965,nsv902916,nsv902933,nsv902929,nsv902925,nsv902930 M 6533 16 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS30129,IS31441,IS39336,IS39341,IS40024,IS41870,MS10074,MS11451,MS11867,MS12365,MS14842,MS24162,MS24600,SP52574,SP53060,SP54575 dgv687e1 15 19157015 19258683 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2937,essv21910,essv21649 M 271 0 0 LOC646214,NBEAP1 NA10838,NA12761,NA18972 nsv902917 15 19157708 19212282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500719,nssv1506385 M 6533 2 0 LOC646214,NBEAP1 SP51108,SP54225 dgv2136n71 15 19157708 19322874 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902952,nsv902918 M 6533 3 2 CXADRP2,LOC646214,NBEAP1,POTEB MS17508,MS23878,MS26145,SP54295,SP81181 dgv2137n71 15 19157708 19416328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv902938,nsv902968,nsv902922 M 6533 0 3 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB MS16107,MS20254,SP55847 esv6794 15 19159842 19161897 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29235 S 1 0 0 NBEAP1 SJK nsv902947 15 19160361 19847469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551649 S 6533 0 1 CXADRP2,LOC348120,LOC646214,LOC727924,NBEAP1,NF1P2,POTEB MS18965 essv4997 15 19164450 19199509 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC646214,NBEAP1 NA18571 dgv98e55 15 19181702 20329239 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34223,esv2751490 M 771 2 0 CXADRP2,GOLGA6L1,GOLGA8DP,LOC348120,LOC646214,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NBEAP1,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 NA19137,SPC_194 nsv902961 15 19183352 19248452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513698 S 6533 1 0 LOC646214,NBEAP1 SP55829 nsv512385 15 19186771 19188219 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624973 S 1 0 1 LOC646214,NBEAP1 1 nsv1456 15 19189828 19221336 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2929 S 9 1 0 LOC646214,NBEAP1 NA18555 nsv514764 15 19189988 19220300 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627151 S 1414 0 0 LOC646214,NBEAP1 dgv2138n71 15 19193604 19541911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902966,nsv902977,nsv902971,nsv902970 M 6533 6 0 CXADRP2,LOC348120,LOC646214,NBEAP1,NF1P2,POTEB IS36882,IS41933,MS13808,MS16368,MS17949,MS24503 nsv435662 15 19193995 19201368 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466798 S 2 0 1 LOC646214,NBEAP1 NA15510 esv270400 15 19194600 19194796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511458,essv2508581,essv2504991,essv2510770,essv2494238,essv2504073,essv2509859,essv2496563,essv2509022,essv2506279,essv2505701,essv2502688,essv2504611,essv2499015,essv2509482,essv2498711,essv2497592,essv2496987,essv2493836,essv2503659,essv2495816,essv2499583,essv2513070 M 157 23 0 Samples from several populations that are part of the HapMap project. NBEAP1 NA06986,NA07000,NA07357,NA10847,NA11920,NA12717,NA12828,NA18501,NA18502,NA18505,NA18508,NA18510,NA18522,NA18523,NA18861,NA18965,NA19099,NA19114,NA19129,NA19138,NA19147,NA19190,NA19210 nsv827221 15 19201208 19369224 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441493 S 31 1 0 CXADRP2,NBEAP1,POTEB NA18969 essv4998 15 19203197 19403068 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CXADRP2,NBEAP1,NF1P2,POTEB NA18571 nsv469642 15 19203507 19367828 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649569 M 265 102 0 Samples from several populations that are part of the HapMap project. CXADRP2,NBEAP1,POTEB nsv832915 15 19203508 19367828 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451533,nssv1451531,nssv1451532,nssv1451528,nssv1451536,nssv1451535,nssv1451534,nssv1451542,nssv1451541,nssv1451538,nssv1451540,nssv1451539,nssv1451545,nssv1451544,nssv1451543,nssv1451547,nssv1451546,nssv1451529,nssv1451537,nssv1451526,nssv1451530,nssv1451527 M 95 19 3 CXADRP2,NBEAP1,POTEB nsv471675 15 19203508 19503766 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549808,nssv549789,nssv549796,nssv549784,nssv549787,nssv550652,nssv549791,nssv549801,nssv550656,nssv549803,nssv549788,nssv549785,nssv550653,nssv550651,nssv550667,nssv549804,nssv550663,nssv549800,nssv549793,nssv550668,nssv550649,nssv550660,nssv549802,nssv550661,nssv549806,nssv549797,nssv549814,nssv550648,nssv550669,nssv549813,nssv549783,nssv549809,nssv549794,nssv550650,nssv549817,nssv549815,nssv550659,nssv549792,nssv550666,nssv549786,nssv550662,nssv549798,nssv549811,nssv549805,nssv549812,nssv549790,nssv550654,nssv549816,nssv550665,nssv550664,nssv549807,nssv549795,nssv550658,nssv550657,nssv549810,nssv549799,nssv550655 M 48 2 35 CXADRP2,LOC348120,NBEAP1,NF1P2,POTEB JK1051,JK1058,JK1061,JK1688,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15724,NA15725,NA15727,NA15728,NA15729,NA15730,NA15732,NA15733,NA17014,NA17015,NA17051,NA17052,NA17058,NA17059,P86GA nsv902969 15 19212282 19389908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566830 S 6533 1 0 CXADRP2,NBEAP1,NF1P2,POTEB IS30925 nsv513752 15 19218740 19226718 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627004 S 1 1 0 NBEAP1 1 esv998148 15 19219508 19219508 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578741 S 3 1 0 NBEAP1 HuRef esv1033058 15 19219509 19219509 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978946 S 2 1 0 NBEAP1 HuRef nsv471537 15 19220342 19344722 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547943,nssv547944,nssv547942 M 3 CXADRP2,NBEAP1,POTEB esv2373789 15 19235563 19235986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830591 S 1 0 1 "" NA18507 esv1008087 15 19235728 19235783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573119 S 3 0 1 "" HuRef dgv688e1 15 19244796 19349313 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3500,essv2407 M 271 0 0 CXADRP2,POTEB NA18976,NA18999 dgv2139n71 15 19248452 19374161 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902972,nsv902979 M 6533 2 0 CXADRP2,POTEB IS38388,IS41098 dgv2140n71 15 19248452 19416328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903027,nsv903026,nsv902973,nsv902980 M 6533 0 4 CXADRP2,LOC348120,NF1P2,POTEB IS37771,SP50085,SP50826,SP81562 dgv2141n71 15 19248452 19556128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903030,nsv903015,nsv902975,nsv902976,nsv902990,nsv902991,nsv903033,nsv902989,nsv903001,nsv903014,nsv903000 M 6533 13 0 CXADRP2,LOC348120,NF1P2,POTEB IS39408,MS11157,MS13212,MS14334,MS20356,MS24997,MS25805,SP50118,SP57430,SP57570,SP81074,SP81161,SP81265 dgv2142n71 15 19248452 19558265 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv902994,nsv903017,nsv902978,nsv902974,nsv903012,nsv902992,nsv902987,nsv902988,nsv902995,nsv903016,nsv903013 M 6533 31 16 CXADRP2,LOC348120,NF1P2,POTEB IS30307,IS30473,IS31154,IS31553,IS31971,IS33788,IS34312,IS34543,IS34970,IS35461,IS37194,IS38098,IS39650,IS40248,IS40310,IS40662,IS40930,MS10666,MS13206,MS15220,MS15508,MS15511,MS16268,MS16846,MS17492,MS18290,MS18956,MS19006,MS20009,MS20037,MS20563,MS21449,MS22999,MS23875,MS24533,MS24692,MS25451,SP50692,SP54119,SP55548,SP55748,SP56387,SP56734,SP56909,SP57008,SP57665,SP80948 dgv689e1 15 19257253 19403068 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2365,essv521 M 271 0 0 CXADRP2,NF1P2,POTEB NA18952,NA18995 dgv2143n71 15 19257404 19448462 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903009,nsv902984,nsv902983,nsv902982,nsv902981,nsv902985,nsv902986,nsv902999,nsv902998,nsv903011 M 6533 13 0 CXADRP2,LOC348120,NF1P2,POTEB IS36103,IS37784,IS38142,IS41112,MS14724,MS14888,MS15541,MS16206,SP50721,SP50761,SP50900,SP52234,SP56373 dgv2144n71 15 19257404 19556128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903028,nsv903021,nsv902993 M 6533 0 3 CXADRP2,LOC348120,NF1P2,POTEB IS35523,SP50081,SP55553 esv999715 15 19259295 19266700 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565759 S 3 0 1 "" HuRef esv2111582 15 19266226 19266671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842566 S 1 0 1 "" NA18507 dgv2145n71 15 19266749 19355360 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv902996,nsv903002,nsv902997 M 6533 3 0 CXADRP2,POTEB SP52716,SP54680,SP58557 esv34233 15 19272564 20773725 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989075,essv6988125,essv6979209 M 771 0 1 CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,LOC348120,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NF1P2,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3,TUBGCP5,WHAMMP3 NA18507 dgv2146n71 15 19276020 19416328 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903004,nsv903022,nsv903006,nsv903025,nsv903007,nsv903003,nsv903005 M 6533 12 0 LOC348120,NF1P2,POTEB IS34489,IS36077,IS39971,MS10950,MS14714,MS15429,MS17156,MS21637,SP52493,SP53144,SP54875,SP81072 dgv2147n71 15 19276020 19448462 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903010,nsv903008 M 6533 5 3 LOC348120,NF1P2,POTEB IS30398,IS39785,IS41862,MS10999,MS15286,MS17973,MS19458,SP56658 dgv2148n71 15 19276020 20049770 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903118,nsv903018,nsv903083,nsv903154,nsv903155 M 6533 5 0 LOC348120,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 IS31323,IS36752,IS38637,IS39243,MS17056 dgv2149n71 15 19278545 19494732 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903031,nsv903045,nsv903020,nsv903019 M 6533 0 4 LOC348120,NF1P2,POTEB IS36656,SP50979,SP54581,SP54790 nsv903023 15 19288069 19355360 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516752,nssv1502037 M 6533 1 1 POTEB SP50973,SP56926 dgv2150n71 15 19288069 19372096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903029,nsv903024 M 6533 0 2 POTEB SP53041,SP56004 nsv514765 15 19304988 19341668 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627152 S 1414 0 0 POTEB nsv832916 15 19305060 19467937 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451550,nssv1451552,nssv1451553,nssv1451569,nssv1451551,nssv1451548,nssv1451549,nssv1451556,nssv1451555,nssv1451554,nssv1451557,nssv1451561,nssv1451562,nssv1451559,nssv1451560,nssv1451558,nssv1451563,nssv1451567,nssv1451565,nssv1451566,nssv1451564,nssv1451568,nssv1451570,nssv1451583,nssv1451574,nssv1451572,nssv1451571,nssv1451573,nssv1451575,nssv1451576,nssv1451577,nssv1451582,nssv1451581,nssv1451580,nssv1451578,nssv1451579,nssv1451584 M 95 31 6 LOC348120,NF1P2,POTEB dgv690e1 15 19305238 19484504 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv298,essv23682,essv5997,essv14267,essv1193 M 271 0 0 LOC348120,NF1P2,POTEB NA10863,NA18571,NA18951,NA18978,NA19194 nsv471373 15 19305253 19336667 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548099,nssv548101,nssv548098 M 3 POTEB dgv2151n71 15 19306545 19567314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903079,nsv903124,nsv903050,nsv903075,nsv903081,nsv903032,nsv903101,nsv903052,nsv903058,nsv903080,nsv903062,nsv903061,nsv903111,nsv903049 M 6533 0 25 LOC348120,NF1P2,POTEB IS31656,IS32999,IS34184,IS34821,IS35495,IS36050,IS38380,MS10591,MS11971,MS15808,MS16124,MS18747,MS20947,MS21036,MS23133,SP50921,SP50997,SP51175,SP52299,SP52593,SP54725,SP54968,SP55992,SP56106,SP81403 dgv2152n71 15 19313395 19416328 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903035,nsv903038,nsv903040,nsv903039,nsv903034,nsv903037 M 6533 10 0 LOC348120,NF1P2,POTEB IS30082,IS37149,IS37820,MS11565,MS13751,MS18195,MS25331,SP53003,SP56197,SP81010 dgv2153n71 15 19325122 19420124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903041,nsv903036 M 6533 0 4 LOC348120,NF1P2,POTEB IS37817,IS38198,MS17121,MS17485 dgv2154n71 15 19325122 19448462 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903095,nsv903069,nsv903042 M 6533 25 17 LOC348120,NF1P2,POTEB IS30174,IS30198,IS30455,IS30530,IS31729,IS32892,IS34111,IS34803,IS35470,IS35499,IS37226,IS38479,IS39258,IS39414,IS39660,IS39888,IS40063,IS40188,IS40429,MS11722,MS13694,MS14919,MS15482,MS16349,MS16728,MS16772,MS17554,MS17718,MS19008,MS21192,MS22273,MS22492,MS23650,MS24888,MS25112,MS25917,SP51234,SP52893,SP54286,SP57701,SP57951,SP81189 dgv2155n71 15 19325122 19499837 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903044,nsv903047,nsv903071,nsv903046,nsv903070 M 6533 31 34 LOC348120,NF1P2,POTEB IS30127,IS31401,IS31816,IS31825,IS32679,IS32763,IS33040,IS33178,IS33256,IS33544,IS33705,IS33763,IS33868,IS34134,IS35127,IS35180,IS35196,IS35445,IS37993,IS38350,IS38395,IS38397,IS38544,IS38602,IS38993,IS39354,IS39394,IS39678,IS40368,IS40373,IS40490,IS40762,IS41347,IS41819,MS10166,MS10278,MS10430,MS10816,MS11257,MS11326,MS11481,MS11993,MS12859,MS13252,MS13803,MS14779,MS15092,MS15097,MS15385,MS16447,MS17148,MS17599,MS18803,MS20459,MS22787,MS23582,MS23702,MS23725,MS24839,MS25369,MS25782,SP50755,SP52365,SP53685,SP57176 dgv2156n71 15 19325122 19499837 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903088,nsv903072,nsv903043,nsv903055,nsv903060,nsv903107,nsv903093,nsv903056 M 6533 13 0 LOC348120,NF1P2,POTEB MS14835,MS18740,MS20008,MS24738,SP50925,SP51493,SP52582,SP54622,SP55791,SP55803,SP56787,SP57268,SP58433 dgv2157n71 15 19325122 19558265 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903130,nsv903076,nsv903048,nsv903053,nsv903110,nsv903078,nsv903100,nsv903051,nsv903131,nsv903123 M 6533 46 53 LOC348120,NF1P2,POTEB IS30063,IS30084,IS30284,IS30435,IS30487,IS30567,IS31062,IS31396,IS32411,IS32744,IS32992,IS33188,IS33522,IS33622,IS33627,IS33745,IS34047,IS34374,IS34698,IS35475,IS35633,IS35833,IS37044,IS37520,IS37734,IS38119,IS38153,IS38226,IS38251,IS38258,IS38411,IS38444,IS38494,IS38515,IS38525,IS38549,IS39360,IS39676,IS40055,IS40086,IS40219,IS40707,IS41009,IS41179,IS41331,IS41724,MS10324,MS10745,MS11031,MS11715,MS11980,MS12092,MS12211,MS12983,MS13179,MS13207,MS14591,MS14679,MS14978,MS15392,MS16419,MS16455,MS16752,MS16792,MS17028,MS17637,MS17680,MS17739,MS17798,MS17902,MS17906,MS18261,MS18311,MS19698,MS20170,MS20860,MS21528,MS21628,MS23194,MS23460,MS23627,MS23648,MS24056,MS24223,MS24940,MS25690,MS25765,MS25966,MS26050,SP51311,SP52364,SP52369,SP52378,SP53513,SP55269,SP81106,SP81333,SP81383,SP81508 dgv2158n71 15 19325122 20203694 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903182,nsv903054,nsv903084,nsv903176 M 6533 4 0 LOC348120,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,POTEB,REREP3 IS30054,IS30325,IS37480,IS38575 nsv433282 15 19331534 19456317 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463163 S 9 0 1 Samples from several populations that are part of the HapMap project. LOC348120,NF1P2,POTEB NA12878 dgv2159n71 15 19331534 19556128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903074,nsv903109,nsv903085,nsv903125,nsv903136,nsv903057,nsv903099,nsv903140,nsv903077,nsv903137,nsv903089,nsv903108,nsv903073,nsv903098,nsv903116,nsv903117 M 6533 26 0 LOC348120,NF1P2,POTEB IS33406,IS33711,IS35299,IS37605,IS40129,IS41939,MS12017,MS13241,MS14818,MS16160,MS16176,MS17408,MS19502,MS22114,MS22421,MS22705,MS23602,SP50836,SP50876,SP51061,SP52019,SP52058,SP54761,SP55852,SP57208,SP57348 esv2044366 15 19335925 19336314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509888 S 1 0 1 POTEB NA18507 esv1007459 15 19336063 19336173 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574898 S 3 0 1 POTEB HuRef dgv2160n71 15 19337896 19420124 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903066,nsv903059,nsv903065,nsv903068,nsv903067 M 6533 7 0 LOC348120,NF1P2 IS30389,IS33129,IS41195,MS12387,MS21937,SP50532,SP52829 esv2525355 15 19341011 19345508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198069 S 1 0 1 "" NA18507 nsv903063 15 19341464 19397545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501604 S 6533 0 1 NF1P2 SP51069 nsv903064 15 19341464 19406459 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595724,nssv1549050 M 6533 1 1 NF1P2 IS40304,MS18005 dgv2161n71 15 19341464 19580344 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903082,nsv903086 M 6533 2 0 LOC348120,NF1P2 IS38216,SP55542 esv2427986 15 19341695 19433051 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185195 S 1 1 0 LOC348120,NF1P2 NA18507 nsv469803 15 19347687 19503766 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649824 M 265 19 0 Samples from several populations that are part of the HapMap project. LOC348120,NF1P2 dgv2162n71 15 19350081 19420124 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903106,nsv903105,nsv903112,nsv903092,nsv903113,nsv903119,nsv903087 M 6533 9 0 LOC348120,NF1P2 IS31198,IS39999,MS17271,SP50562,SP51019,SP51460,SP54680,SP54760,SP56959 esv2437861 15 19354559 19356070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274354 S 1 0 1 "" NA18507 dgv2163n71 15 19356830 19408394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903103,nsv903091,nsv903090,nsv903094 M 6533 5 0 NF1P2 IS37891,SP54956,SP55013,SP55021,SP56041 esv2587834 15 19358598 19360020 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331397 S 1 0 1 "" NA18507 dgv2164n71 15 19359417 19488393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903096,nsv903138 M 6533 0 2 LOC348120,NF1P2 IS40925,MS12471 dgv2165n71 15 19359417 19499837 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903115,nsv903126,nsv903128,nsv903097,nsv903139,nsv903122,nsv903127 M 6533 16 8 LOC348120,NF1P2 IS30504,IS31041,IS33070,IS34613,IS35176,IS35533,IS37404,IS37960,IS40342,IS40702,MS12577,MS12913,MS12986,MS14164,MS15291,MS20550,MS20690,MS21460,MS22854,MS24052,SP51132,SP51182,SP56400,SP81481 dgv2166n71 15 19360786 19448462 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903102,nsv903120,nsv903114 M 6533 4 0 LOC348120,NF1P2 MS25769,SP50073,SP50144,SP55652 nsv903104 15 19361783 19408394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512692 S 6533 0 1 NF1P2 SP55586 nsv817667 15 19361783 19950423 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417534 S 112 1 0 LOC348120,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4 NA18968 essv188 15 19366762 19407629 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NF1P2 NA18994 nsv903121 15 19372096 19448462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589524 S 6533 0 1 LOC348120,NF1P2 IS38379 dgv2167n71 15 19376940 19558265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903129,nsv903144,nsv903161,nsv903146,nsv903158,nsv903141 M 6533 0 7 LOC348120,NF1P2 IS35548,IS36049,IS38334,MS18553,MS18821,MS19843,SP54108 dgv2168n71 15 19376940 19875658 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903171,nsv903133,nsv903132,nsv903134,nsv903175,nsv903173,nsv903174,nsv903153 M 6533 9 0 LOC348120,LOC727924,NF1P2,OR4M2 IS31155,IS31722,IS38487,IS41664,MS14495,MS18620,MS23152,MS25890,SP50126 esv2437846 15 19377465 19378883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201625 S 1 0 1 "" NA18507 dgv2169n71 15 19382675 19494732 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903143,nsv903135,nsv903148 M 6533 4 0 LOC348120,NF1P2 MS13759,MS18756,SP54383,SP55451 dgv691e1 15 19385558 20072344 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11057,essv8416,essv16600 M 271 0 0 LOC348120,LOC727924,NF1P2,OR4M2,OR4N3P,OR4N4,REREP3 NA18860,NA19093,NA19138 nsv903142 15 19395070 19448462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500635 S 6533 1 0 LOC348120,NF1P2 SP50156 dgv2170n71 15 19395070 19556128 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903157,nsv903151,nsv903147,nsv903150,nsv903160,nsv903145,nsv903163,nsv903156 M 6533 12 18 LOC348120,NF1P2 IS33829,IS35140,IS36153,IS36460,IS38144,IS38285,IS38291,IS39832,IS40023,IS41171,MS11497,MS13467,MS14421,MS15925,MS16607,MS17019,MS17130,MS21866,MS21891,MS25842,SP50085,SP50772,SP51069,SP51259,SP54456,SP54952,SP55150,SP55287,SP57874,SP81020 dgv2171n71 15 19402778 19541911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903164,nsv903159,nsv903149 M 6533 3 0 LOC348120 IS33351,MS15642,SP55610 dgv2172n71 15 19402778 19847469 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903172,nsv903152,nsv903162 M 6533 0 3 LOC348120,LOC727924 IS35253,IS39417,IS41340 nsv433283 15 19408394 19543891 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463164 S 9 0 1 Samples from several populations that are part of the HapMap project. LOC348120 NA18956 nsv1457 15 19418025 19453343 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2098 S 9 0 1 LOC348120 NA18555 nsv514766 15 19418280 19435560 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627154 S 1414 0 0 LOC348120 dgv419n67 15 19423660 19431021 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827224,nsv827223,nsv827222 M 31 3 0 LOC348120 AK16,NA18542,NA18552 esv5710 15 19423708 19431032 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28151 S 1 0 1 LOC348120 SJK esv7942 15 19427783 19431126 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30383 S 1 0 1 LOC348120 SJK dgv420n67 15 19431022 19466791 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827225,nsv827226 M 31 2 0 LOC348120 AK18,NA18951 dgv2173n71 15 19448462 19558265 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903169,nsv903165 M 6533 3 10 LOC348120 IS36772,IS40874,MS13288,MS16188,MS18658,MS20247,MS22343,MS24477,MS25025,SP52732,SP53471,SP54226,SP56936 dgv2174n71 15 19448462 19580344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903167,nsv903166,nsv903168,nsv903170,nsv903177 M 6533 0 9 LOC348120 IS34439,IS37684,MS18652,SP50857,SP54663,SP55571,SP55843,SP56215,SP57545 nsv435658 15 19452951 19782309 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466799 S 2 0 1 LOC348120,LOC727924 NA15510 nsv436730 15 19464478 19466527 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466800 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv421n67 15 19464503 19465753 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827228,nsv827227 M 31 0 3 "" NA18592,NA18947,NA18972 essv13315 15 19464675 20774374 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,NIPA1,NIPA2,OR4M2,OR4N3P,OR4N4,REREP3,TUBGCP5,WHAMMP3 NA18507 nsv827229 15 19464717 19466791 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441494 S 31 1 0 "" NA18969 esv2751492 15 19464910 20089400 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985531,essv6981291,essv6988382 M 771 1 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 BEC_379 esv997452 15 19466132 19800466 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564020 S 3 0 1 LOC727924 HuRef nsv832917 15 19484741 19628411 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451585,nssv1451593,nssv1451586,nssv1451587,nssv1451588,nssv1451589,nssv1451590,nssv1451592,nssv1451591,nssv1451594,nssv1451595 M 95 4 7 "" dgv2175n71 15 19503880 20093116 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903193,nsv903241,nsv903181,nsv903198,nsv903178 M 6533 14 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS33292,IS34599,IS37734,MS14953,SP50690,SP52114,SP54620,SP55021,SP55684,SP55717,SP56119,SP56120,SP57205,SP57297 dgv2176n71 15 19519922 19847469 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903183,nsv903180,nsv903179 M 6533 3 0 LOC727924 IS34185,MS25814,SP58241 nsv509561 15 19568263 19597702 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623670 S 4 1 0 "" NA18994 dgv2177n71 15 19587735 19875658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903185,nsv903188,nsv903204,nsv903206,nsv903184,nsv903209,nsv903186,nsv903187 M 6533 0 13 LOC727924,OR4M2 IS38277,IS40374,MS13795,MS15637,MS25765,SP50631,SP54581,SP54790,SP55553,SP55748,SP55992,SP56086,SP56734 dgv2178n71 15 19618993 19967366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903191,nsv903192,nsv903190,nsv903197,nsv903212 M 6533 0 6 LOC727924,OR4M2,OR4N3P,OR4N4 MS19340,SP50954,SP54367,SP54648,SP55548,SP56106 dgv2179n71 15 19618993 20016405 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903224,nsv903235,nsv903228,nsv903216,nsv903189,nsv903213,nsv903225,nsv903231,nsv903229,nsv903217,nsv903220,nsv903215,nsv903214 M 6533 268 150 LOC727924,OR4M2,OR4N3P,OR4N4 IS30280,IS30292,IS30348,IS30398,IS30473,IS30504,IS30838,IS31041,IS31227,IS31286,IS31729,IS31816,IS31821,IS31835,IS32289,IS32763,IS32803,IS32892,IS32990,IS33040,IS33073,IS33129,IS33188,IS33508,IS33588,IS33627,IS33636,IS33745,IS33788,IS33850,IS34025,IS34111,IS34207,IS34312,IS34361,IS34769,IS34803,IS35078,IS35114,IS35245,IS35299,IS35441,IS35499,IS35548,IS35558,IS35582,IS35637,IS35675,IS35768,IS35803,IS35940,IS36011,IS36195,IS36258,IS36563,IS36957,IS37713,IS37743,IS37820,IS37960,IS37964,IS37990,IS38098,IS38128,IS38142,IS38208,IS38395,IS38397,IS38411,IS38459,IS38486,IS38504,IS38522,IS38549,IS38552,IS38671,IS38962,IS39042,IS39250,IS39361,IS39394,IS39509,IS39528,IS39678,IS39780,IS39832,IS39971,IS39992,IS40086,IS40310,IS40444,IS40662,IS40702,IS40757,IS40925,IS40942,IS40956,IS41102,IS41176,IS41192,IS41347,IS41497,IS41648,IS41801,IS41803,IS41862,IS41874,MS10098,MS10104,MS10141,MS10177,MS10195,MS10311,MS10352,MS10510,MS10591,MS10721,MS10764,MS10816,MS10950,MS10959,MS10999,MS11097,MS11306,MS11331,MS11497,MS11554,MS11728,MS11971,MS12211,MS12217,MS12262,MS12387,MS12539,MS12561,MS12602,MS12630,MS12634,MS12905,MS12973,MS13068,MS13169,MS13207,MS13240,MS13281,MS13379,MS13629,MS14209,MS14289,MS14313,MS14326,MS14416,MS14522,MS14549,MS14637,MS14639,MS14679,MS14842,MS14883,MS14888,MS14919,MS14978,MS15030,MS15050,MS15060,MS15097,MS15269,MS15277,MS15482,MS15502,MS15508,MS15554,MS15780,MS15788,MS15817,MS15907,MS15991,MS16008,MS16056,MS16107,MS16128,MS16228,MS16271,MS16283,MS16355,MS16361,MS16419,MS16537,MS16559,MS16632,MS16643,MS16656,MS16709,MS16772,MS16859,MS16863,MS16986,MS17093,MS17121,MS17126,MS17224,MS17232,MS17278,MS17319,MS17321,MS17580,MS17624,MS17696,MS17718,MS17857,MS17898,MS18077,MS18112,MS18195,MS18290,MS18311,MS18375,MS18400,MS18484,MS18533,MS18740,MS18799,MS18830,MS18848,MS19068,MS19083,MS19119,MS19669,MS19677,MS19923,MS20009,MS20011,MS20204,MS20237,MS20239,MS20361,MS20367,MS20550,MS20747,MS20885,MS21088,MS21491,MS21637,MS21857,MS21891,MS22112,MS22166,MS22245,MS22268,MS22343,MS22568,MS22608,MS22748,MS22765,MS22797,MS22807,MS22854,MS22930,MS22962,MS23290,MS23541,MS23885,MS24000,MS24193,MS24400,MS24427,MS24450,MS24461,MS24563,MS24651,MS24749,MS24752,MS24762,MS24900,MS24940,MS24970,MS25028,MS25099,MS25121,MS25284,MS25303,MS25331,MS25377,MS25451,MS25544,MS25627,MS25690,MS25839,MS25853,MS25966,MS26110,SP50058,SP50074,SP50099,SP50120,SP50537,SP50644,SP50660,SP50685,SP50692,SP50720,SP50753,SP50798,SP50822,SP50836,SP50904,SP50925,SP51016,SP51022,SP51054,SP51069,SP51134,SP51261,SP51309,SP51450,SP51483,SP51486,SP52019,SP52101,SP52224,SP52253,SP52297,SP52298,SP52299,SP52318,SP52331,SP52350,SP52369,SP52378,SP52409,SP52419,SP52523,SP52621,SP52627,SP52787,SP52835,SP52908,SP52946,SP53041,SP53144,SP53262,SP53329,SP53473,SP53569,SP53709,SP53781,SP53894,SP53972,SP53999,SP54007,SP54030,SP54164,SP54190,SP54217,SP54356,SP54575,SP54680,SP54836,SP54853,SP54882,SP54950,SP54956,SP54979,SP55086,SP55092,SP55117,SP55257,SP55261,SP55264,SP55290,SP55360,SP55426,SP55456,SP55597,SP55690,SP56013,SP56085,SP56089,SP56128,SP56224,SP56370,SP56373,SP56400,SP56633,SP56805,SP56875,SP56887,SP56965,SP56971,SP56976,SP57061,SP57443,SP57469,SP57534,SP57575,SP57665,SP57675,SP58047,SP58141,SP58202,SP58537,SP80970,SP81068,SP81073,SP81095,SP81149,SP81168,SP81254,SP81347,SP81349,SP81352,SP81361,SP81399,SP81432,SP81495,SP81498,SP81513,SP81541 dgv2180n71 15 19618993 20203694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903194,nsv903195,nsv903243 M 6533 0 3 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 MS11137,MS14683,MS15826 dgv2181n71 15 19631562 19895423 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903196,nsv903211,nsv903205,nsv903203,nsv903199,nsv903200,nsv903201,nsv903202 M 6533 15 0 LOC727924,OR4M2,OR4N4 IS38237,SP50574,SP51158,SP51493,SP52035,SP52147,SP53276,SP53719,SP54456,SP54722,SP55160,SP55310,SP56926,SP56959,SP57292 dgv2182n71 15 19635853 19884656 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903207,nsv903208,nsv903210 M 6533 5 16 LOC727924,OR4M2,OR4N4 SP50725,SP50979,SP50997,SP51254,SP51460,SP52110,SP52858,SP52925,SP53060,SP53458,SP54544,SP54661,SP54704,SP54760,SP56004,SP56200,SP56301,SP57270,SP57274,SP80925,SP80930 dgv2183n71 15 19635853 20049770 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903234,nsv903237,nsv903236,nsv903222,nsv903233,nsv903238,nsv903226,nsv903227,nsv903221,nsv903223,nsv903232,nsv903240,nsv903219,nsv903218,nsv903230 M 6533 25 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 MS16049,MS20356,MS20919,MS23194,SP50118,SP50802,SP50882,SP51025,SP51259,SP52117,SP52255,SP52497,SP52772,SP54782,SP55195,SP55650,SP55662,SP55971,SP56029,SP56848,SP57058,SP57299,SP80953,SP81010,SP81074 dgv2184n71 15 19635853 20203694 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903247,nsv903242,nsv903244,nsv903239,nsv903245 M 6533 164 36 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS30097,IS30244,IS30307,IS30395,IS30542,IS30742,IS30766,IS30826,IS30883,IS30967,IS30976,IS31082,IS31213,IS31218,IS31285,IS31307,IS31481,IS31546,IS31576,IS31651,IS31703,IS32365,IS32517,IS32666,IS32679,IS32714,IS32992,IS33175,IS33240,IS33406,IS33531,IS33551,IS33600,IS33616,IS33830,IS33857,IS34405,IS34407,IS34468,IS34489,IS34648,IS34895,IS35025,IS35176,IS35280,IS35516,IS35911,IS36022,IS36077,IS36882,IS36963,IS37043,IS37098,IS37149,IS37404,IS37471,IS37577,IS37702,IS37776,IS37866,IS37889,IS38031,IS38153,IS38207,IS38346,IS38350,IS38417,IS38541,IS38598,IS39625,IS39627,IS39991,IS40046,IS40368,IS40473,IS40520,IS41202,IS41859,MS10060,MS10121,MS10400,MS10441,MS10698,MS10941,MS10957,MS11237,MS11257,MS11481,MS12071,MS12266,MS12640,MS12823,MS12859,MS13241,MS13254,MS13292,MS13548,MS13916,MS13932,MS14035,MS14093,MS14296,MS14544,MS14708,MS14724,MS15307,MS15402,MS15479,MS15487,MS15571,MS15777,MS15838,MS16124,MS16168,MS16611,MS16704,MS16792,MS17130,MS17554,MS17678,MS17730,MS17830,MS17973,MS18217,MS18329,MS18406,MS18407,MS18454,MS18824,MS18947,MS18993,MS19487,MS19488,MS19606,MS19698,MS19756,MS20741,MS21356,MS22008,MS22146,MS22252,MS22273,MS22465,MS22728,MS22770,MS22787,MS22789,MS23709,MS23724,MS24052,MS24162,MS24365,MS24600,MS24624,MS24783,MS24886,MS25432,MS25475,MS25699,MS25789,MS25917,MS26050,SP50543,SP50552,SP50633,SP50809,SP51178,SP51200,SP51234,SP51311,SP52341,SP52562,SP52713,SP52816,SP52829,SP53003,SP53503,SP53602,SP54993,SP55013,SP55167,SP55200,SP55394,SP56758,SP56788,SP56882,SP56903,SP57570,SP57604,SP57789,SP58467,SP58553,SP80916,SP80943,SP81161,SP81203,SP81265,SP81326,SP81365,SP81538 dgv2185n71 15 19635853 20314760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903249,nsv903251,nsv903246,nsv903250,nsv903248 M 6533 15 0 GOLGA6L1,GOLGA8DP,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,OR4M2,OR4N3P,OR4N4,REREP3 IS32653,IS39104,IS39660,IS40024,MS19941,MS24503,SP50144,SP50532,SP51244,SP51419,SP51489,SP54461,SP54685,SP56549,SP57348 esv998439 15 19643430 19663437 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586710 S 3 0 1 "" HuRef esv29701 15 19763549 20097493 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10884,esv20794,esv17544,esv18717,esv16942,esv19953,esv15145,esv17571,esv13441,esv10045,esv16039,esv14445,esv13312,esv11551,esv15340,esv17305,esv19556,esv19767,esv16546,esv18897,esv15798,esv14397,esv15513,esv11651 M 451 25 24 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv7n31 15 19764002 19924652 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471527,nsv471496,nsv471525 M 3 LOC727924,OR4M2,OR4N3P,OR4N4 dgv422n67 15 19765852 20091316 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827233,nsv827231,nsv827232,nsv827234,nsv827235 M 31 10 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 AK12,AK4,AK8,NA18547,NA18564,NA18582,NA18942,NA18968,NA18973,NA18997 dgv2186n71 15 19767013 19841567 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903253,nsv903252,nsv903258,nsv903280,nsv903281,nsv903279 M 6533 13 0 LOC727924 SP51086,SP51499,SP52077,SP52716,SP54480,SP56196,SP56197,SP56710,SP56793,SP56913,SP57027,SP57226,SP81009 dgv2187n71 15 19767013 19856526 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903259,nsv903254 M 6533 2 0 LOC727924 SP55829,SP57045 dgv2188n71 15 19767013 19895423 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903286,nsv903262,nsv903285,nsv903326,nsv903324,nsv903255 M 6533 0 11 LOC727924,OR4M2,OR4N4 SP50085,SP50963,SP50973,SP52053,SP54393,SP55551,SP55596,SP55926,SP56173,SP57328,SP57485 dgv9n14 15 19767013 19900599 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433284,nsv433287 M 9 0 2 LOC727924,OR4M2,OR4N4 NA12156,NA18507 dgv2189n71 15 19767013 19993878 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903293,nsv903287,nsv903351,nsv903295,nsv903334,nsv903268,nsv903267,nsv903333,nsv903256,nsv903291,nsv903289,nsv903332,nsv903336 M 6533 21 0 LOC727924,OR4M2,OR4N3P,OR4N4 IS30129,MS14630,SP50754,SP50829,SP50936,SP50984,SP51111,SP52057,SP52231,SP52529,SP52590,SP54401,SP54561,SP54672,SP55800,SP55803,SP56012,SP56846,SP57268,SP57324,SP58305 dgv10n14 15 19767013 20090262 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433285,nsv433286 M 9 0 2 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 NA12878,NA18555 dgv11n14 15 19767013 20093116 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433428,nsv433427 M 9 2 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 NA15510,NA19240 dgv2190n71 15 19767013 20093116 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903257,nsv903313,nsv903314,nsv903304 M 6533 5 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS38472,MS17605,SP50038,SP57951,SP81197 dgv2191n71 15 19768826 19856526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903261,nsv903284,nsv903282,nsv903260 M 6533 0 5 LOC727924 SP50859,SP51030,SP55586,SP56246,SP56842 dgv2192n71 15 19768826 19900599 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903328,nsv903263 M 6533 2 0 LOC727924,OR4M2,OR4N4 SP50134,SP52582 dgv2193n71 15 19768826 19947735 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903330,nsv903265,nsv903331 M 6533 5 7 LOC727924,OR4M2,OR4N3P,OR4N4 SP50107,SP51056,SP51449,SP52051,SP53425,SP55401,SP55652,SP55952,SP56457,SP57173,SP57250,SP57860 dgv2194n71 15 19768826 19956868 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903264,nsv903329,nsv903288,nsv903290 M 6533 0 5 LOC727924,OR4M2,OR4N3P,OR4N4 SP50561,SP52095,SP54535,SP55219,SP55842 dgv2195n71 15 19768826 20001013 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903374,nsv903292,nsv903362,nsv903307,nsv903294,nsv903296,nsv903335,nsv903270 M 6533 80 30 LOC727924,OR4M2,OR4N3P,OR4N4 IS30063,IS30067,IS30316,IS30407,IS31207,IS32736,IS33494,IS33796,IS34382,IS34555,IS34582,IS34970,IS35011,IS35180,IS36647,IS36772,IS36820,IS38072,IS38220,IS38479,IS38591,IS39336,IS40057,IS40248,IS40333,IS40382,IS40556,IS40627,IS40658,IS40801,IS40817,IS40855,IS41549,IS41647,IS41842,IS41871,MS10226,MS10413,MS10615,MS11641,MS12045,MS12353,MS12461,MS12688,MS12991,MS13319,MS13751,MS14284,MS14309,MS14809,MS15175,MS15242,MS15458,MS15541,MS16616,MS16677,MS16934,MS17703,MS17974,MS18274,MS18946,MS18956,MS19161,MS19460,MS19777,MS20288,MS20520,MS20830,MS21188,MS21315,MS21626,MS21677,MS21866,MS23210,MS23916,MS25112,MS25439,MS25521,SP50646,SP51079,SP51250,SP51265,SP52612,SP52754,SP52782,SP53293,SP53401,SP54023,SP54047,SP54063,SP54337,SP55110,SP55500,SP56007,SP56418,SP56582,SP56845,SP56909,SP56993,SP57044,SP57158,SP57217,SP57574,SP57690,SP57925,SP57959,SP81172,SP81397,SP81414,SP81453 dgv2196n71 15 19768826 20016954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903308,nsv903266,nsv903299,nsv903309,nsv903363,nsv903269,nsv903337 M 6533 0 8 LOC727924,OR4M2,OR4N3P,OR4N4 IS34492,IS35378,IS41857,MS10324,MS18263,SP51021,SP51440,SP53451 dgv2197n71 15 19768826 20049770 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903310,nsv903271,nsv903302,nsv903339,nsv903274,nsv903273,nsv903272,nsv903367,nsv903352,nsv903297,nsv903298,nsv903275,nsv903301,nsv903300 M 6533 30 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS30081,IS30241,IS34422,IS38348,IS38601,IS40809,MS12170,MS12947,MS13527,MS15942,MS16176,MS18132,MS19017,MS21218,SP50073,SP51063,SP51297,SP51473,SP51485,SP52082,SP52109,SP52438,SP53036,SP54189,SP54383,SP54941,SP55642,SP80977,SP81072,SP81553 dgv2198n71 15 19768826 20093116 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903375,nsv903368,nsv903338,nsv903376,nsv903312,nsv903276,nsv903378,nsv903340,nsv903311,nsv903303 M 6533 71 34 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS30066,IS30152,IS30181,IS30423,IS30564,IS30609,IS31066,IS31133,IS31825,IS32686,IS32817,IS33030,IS33115,IS33839,IS34360,IS34374,IS34443,IS34497,IS35100,IS35294,IS35421,IS35533,IS35561,IS36481,IS36612,IS36876,IS36901,IS37110,IS37778,IS38075,IS38217,IS38355,IS38371,IS38391,IS38466,IS38572,IS38599,IS38654,IS39090,IS39428,IS39564,IS40063,IS40254,IS40347,IS40356,IS40475,IS40495,IS41168,IS41783,IS41913,MS10241,MS10470,MS10674,MS10769,MS11022,MS11565,MS12209,MS12886,MS13135,MS13160,MS13716,MS13800,MS14323,MS14681,MS16265,MS17449,MS18510,MS18922,MS19011,MS19276,MS19437,MS19637,MS20468,MS21262,MS21457,MS21937,MS22103,MS22494,MS23486,MS24020,MS25190,MS26033,SP50540,SP50700,SP50721,SP50830,SP50998,SP51019,SP51398,SP52364,SP52493,SP52740,SP52834,SP52893,SP53997,SP55465,SP55542,SP55637,SP55791,SP56733,SP56949,SP57005,SP57701,SP57771,SP81556 dgv2199n71 15 19768826 20203694 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903315,nsv903370,nsv903278,nsv903379,nsv903306 M 6533 87 24 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS30039,IS30467,IS30835,IS30960,IS31198,IS31747,IS31765,IS31778,IS31991,IS32150,IS32429,IS33196,IS33475,IS33566,IS33605,IS33776,IS33786,IS33797,IS33868,IS34747,IS34987,IS35174,IS35196,IS35728,IS35924,IS35954,IS35963,IS37325,IS37801,IS38113,IS38198,IS38209,IS38235,IS38511,IS38593,IS38603,IS38617,IS39341,IS39493,IS39646,IS39838,IS40072,IS40197,IS40402,IS40471,IS40872,IS41204,IS41243,IS41782,IS41839,IS41848,IS41956,MS10105,MS10203,MS10731,MS10756,MS11078,MS11693,MS12138,MS12286,MS12475,MS13045,MS13148,MS13498,MS13867,MS14636,MS14702,MS14986,MS15341,MS15926,MS16885,MS17114,MS17572,MS17745,MS18387,MS18436,MS18695,MS18715,MS18819,MS18894,MS19771,MS20583,MS20785,MS21020,MS21194,MS21242,MS21517,MS22093,MS22678,MS23165,MS23295,MS23356,MS23685,MS25219,MS25244,MS25885,MS26100,MS26140,SP50622,SP52416,SP52574,SP52634,SP53303,SP55165,SP55417,SP56640,SP56777,SP56843,SP57540,SP81459,SP81508 dgv2200n71 15 19768826 20261740 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903341,nsv903372,nsv903369,nsv903403,nsv903371,nsv903305,nsv903386,nsv903422,nsv903277,nsv903380,nsv903408,nsv903318,nsv903398 M 6533 25 0 GOLGA8DP,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,OR4M2,OR4N3P,OR4N4,REREP3 IS34742,IS35205,IS39745,IS39931,IS40834,MS13512,MS15525,MS17819,SP50159,SP50562,SP50996,SP51296,SP51411,SP54430,SP54761,SP54792,SP55565,SP55660,SP56143,SP56248,SP56832,SP56927,SP57472,SP57507,SP58557 nsv510653 15 19770883 20097097 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620078 S 4 0 1 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 NA15510 nsv511041 15 19770883 20097097 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622410 S 4 0 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 NA10860 dgv2201n71 15 19777876 19870300 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903323,nsv903283,nsv903321,nsv903322 M 6533 20 14 LOC727924,OR4M2 SP50125,SP50761,SP50915,SP50943,SP51042,SP51140,SP51422,SP52008,SP53402,SP54424,SP54524,SP54681,SP54768,SP54774,SP54803,SP54816,SP54875,SP54983,SP54988,SP55034,SP55318,SP55382,SP55488,SP55539,SP55558,SP55808,SP56041,SP56260,SP56380,SP56707,SP56766,SP57010,SP57482,SP57553 nsv819100 15 19788495 19900599 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418878 S 2 1 0 LOC727924,OR4M2,OR4N4 AK1 dgv692e1 15 19788495 20097557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10430,essv3481,essv2781,essv2377,essv15382,essv4111,essv10392,essv15935,essv9992,essv15739,essv7865,essv9632,essv16697,essv4012,essv462,essv22995,essv13118,essv11716,essv6836,essv8091,essv10203,essv13929,essv6607,essv11095,essv23364,essv677,essv7070,essv18349,essv14813,essv24035,essv3679,essv3319,essv9021,essv10890,essv15179,essv17501 M 271 0 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 NA07357,NA11994,NA12750,NA12762,NA12873,NA18504,NA18515,NA18529,NA18537,NA18558,NA18579,NA18621,NA18854,NA18859,NA18870,NA18943,NA18948,NA18952,NA18970,NA18975,NA18987,NA18992,NA18995,NA19099,NA19131,NA19132,NA19141,NA19142,NA19152,NA19154,NA19203,NA19206,NA19209,NA19211,NA19222 dgv2202n71 15 19788495 20249841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903411,nsv903317,nsv903316 M 6533 0 3 LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,OR4M2,OR4N3P,OR4N4,REREP3 IS38419,IS38505,MS11579 dgv693e1 15 19788495 20428072 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14900,essv12433,essv9501,essv18050,essv23213,essv15440,essv8052,essv967,essv8264,essv13229,essv8974,essv21653,essv12891,essv12015,essv10599,essv23316,essv20316,essv21741,essv8576,essv20720,essv611,essv13819,essv12128,essv8507,essv23890,essv2384,essv8900,essv8690,essv5067,essv14939,essv734,essv4914,essv14005 M 271 0 0 GOLGA6L1,GOLGA8DP,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,OR4M2,OR4N3P,OR4N4,REREP3,TUBGCP5 NA06993,NA10861,NA12156,NA12236,NA12264,NA12752,NA12761,NA12814,NA18521,NA18522,NA18561,NA18570,NA18853,NA18854,NA18912,NA18947,NA18976,NA18981,NA19003,NA19103,NA19129,NA19130,NA19131,NA19132,NA19139,NA19141,NA19152,NA19153,NA19171,NA19173,NA19206,NA19211,NA19222 nsv903319 15 19788917 19835619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512107,nssv1501827 M 6533 2 0 LOC727924 SP50908,SP55279 nsv903320 15 19788917 19841567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504404 S 6533 0 1 LOC727924 SP52470 nsv903325 15 19788917 19876834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506199 S 6533 1 0 LOC727924,OR4M2 SP54058 nsv903327 15 19788917 19895423 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517684,nssv1515271,nssv1515202,nssv1502470 M 6533 2 2 LOC727924,OR4M2,OR4N4 SP51196,SP56136,SP56144,SP57347 essv10128 15 19791326 19970466 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC727924,OR4M2,OR4N3P,OR4N4 NA19130 dgv2203n71 15 19800798 19852603 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903345,nsv903342,nsv903343 M 6533 3 0 LOC727924 SP52390,SP54621,SP56094 dgv2204n71 15 19800798 19981763 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903344,nsv903400,nsv903361,nsv903350,nsv903349,nsv903359,nsv903360 M 6533 10 0 LOC727924,OR4M2,OR4N3P,OR4N4 SP51302,SP52131,SP52308,SP52914,SP53490,SP54049,SP54551,SP55074,SP56047,SP57754 nsv442688 15 19803370 20089386 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 nsv514767 15 19806020 20089390 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628226 S 1414 0 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 dgv2205n71 15 19806077 19875658 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903347,nsv903346,nsv903356 M 6533 4 0 LOC727924,OR4M2 SP52130,SP55695,SP56114,SP80955 dgv2206n71 15 19806077 19912458 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903348,nsv903357,nsv903358 M 6533 3 0 LOC727924,OR4M2,OR4N4 SP50061,SP50063,SP54750 dgv2207n71 15 19806077 20090262 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903393,nsv903397,nsv903406,nsv903385,nsv903353,nsv903417,nsv903410,nsv903407 M 6533 13 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS33558,IS35633,IS38101,MS10797,MS11384,SP52234,SP54384,SP55852,SP56185,SP56289,SP56952,SP57430,SP81359 nsv469630 15 19808432 19975452 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649556 M 265 81 2 Samples from several populations that are part of the HapMap project. LOC727924,OR4M2,OR4N3P,OR4N4 dgv2208n71 15 19811954 19856526 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903354,nsv903355 M 6533 2 2 LOC727924 SP52025,SP53572,SP54579,SP56886 dgv2209n71 15 19811954 20049770 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903365,nsv903409,nsv903364,nsv903396,nsv903366,nsv903405 M 6533 6 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS30771,MS11836,MS12103,MS24374,SP55610,SP55749 dgv99e55 15 19821400 20089400 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751493,esv2751494,esv2751496,esv2751497,esv2751510 M 771 5 0 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 BEC_343,BEC_565,NA19153,SPC_50,SPC_63 dgv100e55 15 19821421 20089383 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751502,esv2751503,esv2751508,esv2751501,esv34410,esv34636,esv34885,esv34961,esv34986,esv2751495,esv2751498,esv2751499,esv2751500,esv2751504,esv2751505,esv2751506,esv2751507,esv2751509,esv2751511 M 771 0 19 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 BEC_298,BEC_310,BEC_341,BEC_411,BEC_446,BEC_451,BEC_496,BEC_609,BEC_636,BEC_659,BEC_677,BEC_725,BEC_735,BEC_830,NA12156,NA18558,NA18561,NA19200,SPC_80 dgv101e55 15 19821421 20329239 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35120,esv34499,esv34906,esv35044 M 771 0 4 GOLGA6L1,GOLGA8DP,LOC727924,MIR4509-1,MIR4509-2,MIR4509-3,OR4M2,OR4N3P,OR4N4,REREP3 NA18579,NA18621,NA18952,NA18975 dgv2210n71 15 19821672 19956868 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903383,nsv903382,nsv903392,nsv903391,nsv903384,nsv903390,nsv903373 M 6533 0 8 LOC727924,OR4M2,OR4N3P,OR4N4 SP50129,SP50856,SP53583,SP54636,SP56100,SP56126,SP56795,SP57376 nsv903377 15 19821672 20090262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571763,nssv1589525 M 6533 0 2 LOC727924,OR4M2,OR4N3P,OR4N4,REREP3 IS32806,IS38379 dgv2211n71 15 19822859 19912458 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903389,nsv903381,nsv903395,nsv903399,nsv903401 M 6533 5 0 LOC727924,OR4M2,OR4N4 SP52020,SP54626,SP54682,SP55914,SP56096 nsv903387 15 19827281 19876834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513242 S 6533 1 0 LOC727924,OR4M2 SP55698 dgv2212n71 15 19827281 19884656 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903388,nsv903394 M 6533 0 9 LOC727924,OR4M2,OR4N4 SP51161,SP53440,SP53448,SP54627,SP54892,SP55019,SP55027,SP57201,SP57669 nsv1458 15 19833638 19874988 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5537 S 9 0 1 LOC727924,OR4M2 NA19129 nsv827236 15 19836758 19845428 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437761 S 31 0 1 LOC727924 NA18949 esv994609 15 19837874 19845820 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564603 S 3 0 1 LOC727924 HuRef nsv512386 15 19837905 19845630 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624974 S 1 0 1 LOC727924 1 esv9565 15 19838206 19845465 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32006 S 1 0 1 LOC727924 SJK nsv498839 15 19838217 19845458 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585700 S 9 0 1 LOC727924 dgv2213n71 15 19841567 20001013 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903402,nsv903404 M 6533 0 2 LOC727924,OR4M2,OR4N3P,OR4N4 IS39886,SP56833 nsv832918 15 19849582 20046356 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451606,nssv1451603,nssv1451610,nssv1451602,nssv1451618,nssv1451621,nssv1451600,nssv1451599,nssv1451619,nssv1451620,nssv1451617,nssv1451605,nssv1451604,nssv1451609,nssv1451608,nssv1451607,nssv1451611,nssv1451616,nssv1451601,nssv1451614,nssv1451598,nssv1451597,nssv1451612,nssv1451613,nssv1451615,nssv1451596 M 95 25 1 LOC727924,OR4M2,OR4N3P,OR4N4 nsv817668 15 19852603 19950423 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418402,nssv1417366,nssv1416150,nssv1416799,nssv1416870,nssv1418025,nssv1416397,nssv1416398,nssv1416399,nssv1416161,nssv1416869,nssv1417938,nssv1417936,nssv1416801,nssv1416676,nssv1418211,nssv1416871,nssv1416187,nssv1416188,nssv1418210,nssv1418212,nssv1416800,nssv1415792,nssv1416189,nssv1416677 M 112 16 9 LOC727924,OR4M2,OR4N3P,OR4N4 NA07357,NA12239,NA12875,NA12878,NA12891,NA12892,NA18852,NA18854,NA18855,NA18856,NA18857,NA18944,NA19116,NA19119,NA19141,NA19142,NA19143,NA19144,NA19145,NA19159,NA19160,NA19161,NA19238,NA19239,NA19240 dgv2214n71 15 19859453 19967366 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903415,nsv903413,nsv903412,nsv903420 M 6533 4 0 LOC727924,OR4M2,OR4N3P,OR4N4 SP50649,SP51042,SP55573,SP56223 dgv2215n71 15 19859453 19981763 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903414,nsv903433 M 6533 2 3 LOC727924,OR4M2,OR4N3P,OR4N4 SP50963,SP51422,SP54434,SP55318,SP56324 dgv2216n71 15 19859453 20027469 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903421,nsv903416,nsv903444,nsv903454,nsv903440 M 6533 5 0 LOC727924,OR4M2,OR4N3P,OR4N4 IS41739,SP50183,SP54373,SP55557,SP56041 dgv2217n71 15 19870300 19967501 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903418,nsv903419,nsv903424,nsv903423,nsv903430,nsv903431,nsv903436,nsv903438 M 6533 12 0 LOC727924,OR4M2,OR4N3P,OR4N4 SP50574,SP51158,SP52055,SP53060,SP54480,SP55265,SP55451,SP55695,SP55699,SP57199,SP57208,SP58155 nsv435657 15 19874019 19885390 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466801 S 2 0 1 OR4N4 NA15510 dgv2218n71 15 19875658 19984438 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903425,nsv903437,nsv903432,nsv903442,nsv903443,nsv903448,nsv903453,nsv903439 M 6533 0 12 OR4N3P,OR4N4 SP50973,SP50997,SP51104,SP51338,SP52161,SP53333,SP54661,SP54726,SP55553,SP55808,SP56842,SP57482 dgv2219n71 15 19875658 20080112 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903426,nsv903427,nsv903446 M 6533 8 7 OR4N3P,OR4N4,REREP3 IS30222,IS30319,IS36591,IS38516,IS39817,IS40877,IS41830,MS14260,MS16708,MS19798,MS25039,SP54060,SP56780,SP58378,SP81500 dgv2220n71 15 19875658 20203694 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903428,nsv903459 M 6533 15 3 OR4N3P,OR4N4,REREP3 IS31145,IS32166,IS33261,IS34353,IS34789,IS35083,IS36727,IS38186,IS38216,IS39009,MS10064,MS10515,MS10897,MS15286,MS17492,MS17697,MS17869,SP58241 nsv903429 15 19876834 19947735 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509276,nssv1517053,nssv1517608 M 6533 2 1 OR4N3P,OR4N4 SP54774,SP57067,SP57328 nsv903434 15 19876834 19993878 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504429 S 6533 1 0 OR4N3P,OR4N4 SP52475 dgv2221n71 15 19876834 20203694 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903435,nsv903447,nsv903461,nsv903458 M 6533 9 0 OR4N3P,OR4N4,REREP3 IS33545,IS35287,IS41927,SP50134,SP50521,SP54042,SP54760,SP80948,SP81083 dgv2222n71 15 19884656 20080112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903441,nsv903445 M 6533 0 2 OR4N3P,OR4N4,REREP3 MS20042,SP56834 nsv819960 15 19886615 20145489 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418796 S 2 1 0 OR4N3P,REREP3 AK1 nsv903449 15 19900599 19963018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514655 S 6533 0 1 OR4N3P SP56042 dgv2223n71 15 19900599 19981763 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903450,nsv903452,nsv903451 M 6533 3 0 OR4N3P SP51043,SP56766,SP57551 dgv2224n71 15 19900599 20090262 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903456,nsv903457,nsv903455,nsv903460 M 6533 10 0 OR4N3P,REREP3 IS35608,IS36527,IS38270,MS10115,MS25529,SP52440,SP53051,SP53616,SP54862,SP55787 nsv471374 15 19915066 19915749 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548103,nssv548102,nssv548104 M 3 OR4N3P essv19052 15 19923127 19951198 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11830 dgv694e1 15 19932331 20097557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14878,essv8960 M 271 0 0 REREP3 NA18522,NA19200 nsv832919 15 19933374 20094181 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451633,nssv1451622,nssv1451635,nssv1451646,nssv1451636,nssv1451626,nssv1451625,nssv1451627,nssv1451624,nssv1451628,nssv1451634,nssv1451632,nssv1451630,nssv1451631,nssv1451639,nssv1451645,nssv1451640,nssv1451629,nssv1451638,nssv1451637,nssv1451641,nssv1451643,nssv1451644,nssv1451642,nssv1451647,nssv1451648,nssv1451623,nssv1451649,nssv1451650 M 95 23 6 REREP3 dgv2225n71 15 19933866 19993878 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903464,nsv903463,nsv903462 M 6533 3 0 "" SP50063,SP52077,SP52588 dgv2226n71 15 19933866 20049770 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903469,nsv903465,nsv903471 M 6533 3 0 REREP3 IS30635,SP54622,SP54682 esv990207 15 19937134 19937244 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582837 S 3 0 1 "" HuRef dgv2227n71 15 19943075 20093116 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903466,nsv903482,nsv903467,nsv903478,nsv903474,nsv903473,nsv903472 M 6533 9 0 REREP3 IS40292,MS14617,MS16852,MS24419,SP50665,SP54626,SP55694,SP56096,SP56457 dgv2228n71 15 19946103 20203694 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903488,nsv903486,nsv903485,nsv903481,nsv903483,nsv903468,nsv903476,nsv903470 M 6533 23 0 REREP3 IS30409,IS30522,IS40606,IS41497,IS41892,IS41933,MS11326,MS11358,MS13757,MS14450,MS15199,MS20030,MS21309,SP50059,SP50925,SP51061,SP51309,SP52231,SP53458,SP54575,SP54672,SP55952,SP57347 nsv903475 15 19950423 20203578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518520 S 6533 0 1 REREP3 SP57669 dgv2229n71 15 19950423 20249841 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903491,nsv903492,nsv903484,nsv903490,nsv903477 M 6533 5 0 MIR4509-1,MIR4509-2,MIR4509-3,REREP3 IS40342,IS41768,MS14728,MS16242,SP81453 nsv433289 15 19956868 20015993 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463170 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18507 dgv2230n71 15 19967366 20080112 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903480,nsv903479 M 6533 3 2 REREP3 IS30226,MS15453,MS15805,MS17642,MS17849 nsv832920 15 19970520 20094181 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451653,nssv1451651,nssv1451654,nssv1451652 M 95 0 4 REREP3 nsv512387 15 19978926 19988246 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624975 S 1 0 1 "" 1 nsv827237 15 19982097 20091094 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441496 S 31 1 0 REREP3 NA18969 nsv827238 15 19988229 19992361 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431643 S 31 1 0 "" AK18 nsv437797 15 19989036 20689167 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467678 S 60 0 1 Samples from several populations that are part of the HapMap project. CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,MIR4509-1,MIR4509-2,MIR4509-3,NIPA1,NIPA2,REREP3,TUBGCP5 NA18506 dgv2231n71 15 20001013 20203694 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903489,nsv903487 M 6533 29 12 REREP3 IS30129,IS30228,IS30493,IS34304,IS35548,IS38180,IS38254,IS38274,IS38962,IS39426,IS39881,IS40490,IS40625,MS11554,MS11883,MS11980,MS12630,MS12634,MS13240,MS14421,MS14818,MS16064,MS17232,MS18946,MS20204,MS20563,MS22836,MS23875,MS23958,MS24747,MS25369,SP50720,SP51380,SP52612,SP52627,SP53834,SP55024,SP56349,SP56894,SP81495,SP81504 esv1595372 15 20004633 20004703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800365 S 2 0 1 "" HuRef nsv827239 15 20006621 20068133 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437027 S 31 1 0 REREP3 NA18542 esv4934 15 20012869 20013572 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27375 S 1 0 1 Single Asian sample YH "" YH esv1719232 15 20012986 20013319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847611 S 2 0 1 "" HuRef nsv832921 15 20026206 20094181 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451655 S 95 0 1 REREP3 nsv827240 15 20044544 20050944 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430160 S 31 1 0 REREP3 NA18947 esv2599755 15 20064193 20064769 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166233 S 1 1 0 REREP3 NA18507 esv1651692 15 20064468 20064468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225942 S 2 1 0 REREP3 HuRef esv1530729 15 20064487 20064487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785773 S 2 1 0 REREP3 HuRef nsv903493 15 20093116 20314760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576634 S 6533 1 0 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 IS34185 dgv695e1 15 20197558 20428072 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21260,essv1860,essv19690,essv16394,essv12359,essv8142,essv11554,essv10878,essv17179,essv20579,essv2226,essv17428,essv21508 M 271 0 0 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3,TUBGCP5 NA07056,NA10855,NA12043,NA12264,NA12873,NA18871,NA18960,NA18976,NA19138,NA19139,NA19171,NA19173,NA19206 esv26683 15 20197602 20385337 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9989,esv12911,esv17627,esv17866,esv13761,esv15990,esv19192,esv14261 M 451 19 26 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3,TUBGCP5 NA06985,NA07037,NA11894,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv469776 15 20197681 20382422 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649797 M 265 0 2 Samples from several populations that are part of the HapMap project. GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 nsv9181 15 20198407 20252877 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19991,nssv22567,nssv25053,nssv22539,nssv24098,nssv25345,nssv21620,nssv22289,nssv19300,nssv22259,nssv21590,nssv25688,nssv22229,nssv22245,nssv27057,nssv21934,nssv20792,nssv21276 M 31 8 8 Samples from several populations that are part of the HapMap project. MIR4509-1,MIR4509-2,MIR4509-3 NA07029,NA10839,NA10863,NA11830,NA12740,NA12802,NA12872,NA18502,NA18504,NA18537,NA18853,NA18860,NA19132,NA19173,NA19221 nsv511042 15 20199889 21034000 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622411,nssv621632 M 4 0 0 CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC283683,MIR4509-1,MIR4509-2,MIR4509-3,NIPA1,NIPA2,TUBGCP5,WHAMMP3 NA10860,NA15510 nsv832922 15 20202342 20325065 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451658,nssv1451657,nssv1451656,nssv1451660,nssv1451659 M 95 2 3 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 nsv903494 15 20203694 20338467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516044 S 6533 1 0 GOLGA6L1,GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 SP56380 nsv433429 15 20203694 20987445 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463310 S 9 1 0 Samples from several populations that are part of the HapMap project. CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC283683,MIR4509-1,MIR4509-2,MIR4509-3,NIPA1,NIPA2,TUBGCP5,WHAMMP3 NA18555 nsv832923 15 20217896 20287191 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451664,nssv1451663,nssv1451665,nssv1451662,nssv1451661 M 95 1 4 GOLGA8DP,MIR4509-1,MIR4509-2,MIR4509-3 nsv903495 15 20219242 20868229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594100 S 6533 1 0 CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8IP,HERC2P2,LOC283683,MIR4509-1,MIR4509-2,MIR4509-3,NIPA1,NIPA2,TUBGCP5,WHAMMP3 IS39687 esv2474417 15 20229940 21167264 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255266 S 1 0 1 CYFIP1,GOLGA6L1,GOLGA8DP,GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC283683,LOC653061,NIPA1,NIPA2,TUBGCP5,WHAMMP3 NA18507 essv21432 15 20231618 20285790 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GOLGA8DP NA12717 nsv442359 15 20232440 20646852 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,NIPA1,NIPA2,TUBGCP5 nsv832924 15 20240468 20398740 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451666 S 95 0 1 GOLGA6L1,GOLGA8DP,TUBGCP5 dgv696e1 15 20253909 20704897 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14399,essv4139 M 271 0 0 CYFIP1,GOLGA6L1,GOLGA8DP,LOC283683,NIPA1,NIPA2,TUBGCP5 NA18507,NA18555 nsv482174 15 20287610 20297366 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558535 S 1 1 0 GOLGA6L1 KB1 dgv2232n71 15 20288320 20381526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903497,nsv903496 M 6533 0 3 GOLGA6L1 SP54430,SP55212,SP57506 nsv903498 15 20288320 20467603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534474 S 6533 1 0 CYFIP1,GOLGA6L1,TUBGCP5 MS11629 dgv2233n71 15 20288320 20537129 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903506,nsv903528,nsv903499,nsv903540,nsv903534 M 6533 5 0 CYFIP1,GOLGA6L1,TUBGCP5 IS33136,IS36273,MS17678,SP50766,SP50915 dgv2234n71 15 20288320 20756518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903508,nsv903503,nsv903504,nsv903545,nsv903507,nsv903535,nsv903541,nsv903522 M 6533 0 8 CYFIP1,GOLGA6L1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 IS30035,IS31179,IS31282,IS41737,IS41948,MS26017,MS26110,SP54625 dgv2235n71 15 20288320 20778963 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903518,nsv903542,nsv903500,nsv903524,nsv903519,nsv903523,nsv903533,nsv903531,nsv903529,nsv903532,nsv903543,nsv903536 M 6533 12 0 CYFIP1,GOLGA6L1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 IS34497,IS34733,IS36067,IS37292,IS37573,IS38397,IS38552,IS41979,MS14216,SP51014,SP53392,SP58387 dgv2236n71 15 20288320 20796527 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903505,nsv903502,nsv903515,nsv903517,nsv903514,nsv903516,nsv903513,nsv903501 M 6533 12 12 CYFIP1,GOLGA6L1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 IS33508,IS33871,IS33948,IS34856,MS10278,MS10910,MS12506,MS13716,MS13819,MS14281,MS14918,MS15672,MS18003,MS18747,MS20196,MS22245,MS24244,SP50908,SP54434,SP54468,SP54935,SP55610,SP56339,SP58553 nsv9182 15 20299130 20300511 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21828,nssv24142,nssv21650 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18853,NA19240 nsv433290 15 20305097 20685685 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463171 S 9 0 1 Samples from several populations that are part of the HapMap project. CYFIP1,LOC283683,NIPA1,NIPA2,TUBGCP5 NA18507 dgv2237n71 15 20306549 20434983 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903509,nsv903526,nsv903530 M 6533 3 0 TUBGCP5 MS12785,MS15482,MS22645 dgv2238n71 15 20306549 20473890 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903510,nsv903520 M 6533 0 2 CYFIP1,TUBGCP5 IS36383,MS25653 dgv2239n71 15 20306549 20629298 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903511,nsv903521,nsv903512 M 6533 3 0 CYFIP1,NIPA1,NIPA2,TUBGCP5 IS33888,IS40490,MS18432 nsv456612 15 20306549 20635884 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533919 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYFIP1,NIPA1,NIPA2,TUBGCP5 HGDP00573 dgv287n27 15 20306549 20691555 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456626,nsv456624,nsv456625,nsv456631,nsv456628,nsv456622,nsv456630,nsv456627,nsv456623 M 1557 9 0 CYFIP1,LOC283683,NIPA1,NIPA2,TUBGCP5 1780862252_A,1780862444_A,1798860567_A,HGDP00239,HGDP00428,HGDP00701,HGDP00969,HGDP01103,HGDP01348 nsv471225 15 20306549 20778963 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545604,nssv545605 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYFIP1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 HGDP00701,HGDP01051 nsv471226 15 20306549 20778963 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545606 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYFIP1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 HGDP00573 dgv2240n71 15 20317047 20473890 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903525,nsv903527,nsv903539,nsv903544 M 6533 4 0 CYFIP1,TUBGCP5 MS12602,MS14522,MS17271,SP80986 esv267576 15 20320403 20320748 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514522,essv2516644,essv2517504,essv2514023,essv2519038 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11918,NA12043,NA19141 esv1028168 15 20320438 20320438 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963616 S 2 1 0 "" HuRef esv34463 15 20329200 20773725 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986868,essv6979437,essv6979438,essv6979439 M 771 1 0 CYFIP1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 NA18555 essv24027 15 20335459 20457011 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CYFIP1,TUBGCP5 NA12873 esv271906 15 20340061 20340146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516463 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 dgv2241n71 15 20342795 20437666 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903538,nsv903537 M 6533 2 0 TUBGCP5 MS16947,SP81432 dgv8n31 15 20357001 20464046 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471449,nsv471333 M 3 CYFIP1,TUBGCP5 nsv1459 15 20359945 20398904 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5539,nssv2099 M 9 2 0 TUBGCP5 NA18555,NA19129 nsv9183 15 20367145 20386250 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24168,nssv27067,nssv22319,nssv21680,nssv22597,nssv23007,nssv24967,nssv25740,nssv20822,nssv25078,nssv21526,nssv20021 M 31 1 11 Samples from several populations that are part of the HapMap project. TUBGCP5 NA07029,NA11830,NA12155,NA12872,NA18517,NA18552,NA18853,NA18860,NA19132,NA19173,NA19221,NA19240 dgv2242n71 15 20368077 20796527 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903546,nsv903547 M 6533 2 0 CYFIP1,LOC283683,NIPA1,NIPA2,TUBGCP5,WHAMMP3 MS19756,SP56380 nsv95004 15 20375461 20375579 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113582 M 24 "" nsv94355 15 20375762 20381664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112933 M 24 "" esv1502811 15 20380077 20380077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792648 S 2 1 0 "" HuRef nsv94485 15 20382646 20382717 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113063 M 24 "" esv1002014 15 20383374 20383484 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577787 S 3 0 1 "" HuRef nsv471375 15 20384836 20425332 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548105 S 3 TUBGCP5 nsv903548 15 20391412 20434983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546237 S 6533 0 1 TUBGCP5 MS17114 nsv456635 15 20414442 20424239 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533931 S 1557 0 1 TUBGCP5 NINDS_145 essv13814 15 20422689 20588961 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CYFIP1,NIPA2,TUBGCP5 NA18853 nsv456636 15 20427493 20635884 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533932 S 1557 0 1 CYFIP1,NIPA1,NIPA2 1780862356_A nsv469615 15 20428582 20578275 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649539 M 265 0 0 Samples from several populations that are part of the HapMap project. CYFIP1,NIPA2 esv3785 15 20433771 20436473 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26226 S 1 0 1 Single Asian sample YH "" YH esv6808 15 20433799 20436369 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29249 S 1 0 1 "" SJK nsv903549 15 20437666 20473890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570791 S 6533 0 1 CYFIP1 IS32322 nsv903550 15 20443524 20499445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543658 S 6533 0 1 CYFIP1 MS16153 dgv2243n71 15 20443524 20648362 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903551,nsv903558 M 6533 2 0 CYFIP1,LOC283683,NIPA1,NIPA2 MS12602,MS22645 essv24315 15 20457011 20547654 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CYFIP1 NA11882 dgv2244n71 15 20460648 20564567 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903556,nsv903552 M 6533 0 2 CYFIP1,NIPA2 MS10311,MS17208 nsv903553 15 20460862 20523005 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549869 S 6533 0 1 CYFIP1 MS18276 nsv903554 15 20461765 20482886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595411 S 6533 0 1 CYFIP1 IS40230 dgv2245n71 15 20461765 20505022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903555,nsv903557 M 6533 0 2 CYFIP1 IS33504,IS39233 nsv832926 15 20462693 20600001 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451669,nssv1451668,nssv1451667 M 95 1 2 CYFIP1,NIPA1,NIPA2 nsv9184 15 20475140 20477577 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22275,nssv20852 M 31 0 2 Samples from several populations that are part of the HapMap project. CYFIP1 NA07029,NA18537 nsv903559 15 20475925 20685685 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529052,nssv1562578 M 6533 1 1 CYFIP1,LOC283683,NIPA1,NIPA2 MS25653,SP81432 nsv903560 15 20475925 20687235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583270 S 6533 0 1 CYFIP1,LOC283683,NIPA1,NIPA2 IS36383 dgv2246n71 15 20475925 20756518 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903563,nsv903561,nsv903566,nsv903564 M 6533 6 0 CYFIP1,LOC283683,NIPA1,NIPA2,WHAMMP3 MS11629,MS12785,MS14522,MS15482,MS16947,MS17271 nsv903562 15 20477670 20509545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585980 S 6533 0 1 CYFIP1 IS37646 dgv2247n71 15 20482886 20796527 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903567,nsv903565 M 6533 2 0 CYFIP1,LOC283683,NIPA1,NIPA2,WHAMMP3 SP50766,SP80986 essv25143 15 20498385 20547654 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CYFIP1 NA11839 essv19361 15 20498385 20584281 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CYFIP1,NIPA2 NA07019 nsv471376 15 20507196 20555043 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548106 S 3 CYFIP1 dgv697e1 15 20510199 20556643 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23283,essv19356,essv18889 M 271 0 0 CYFIP1,NIPA2 NA06985,NA07345,NA12717 nsv94774 15 20515369 20515369 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113352 M 24 CYFIP1 nsv469667 15 20534111 20703878 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649596 M 265 0 1 Samples from several populations that are part of the HapMap project. CYFIP1,LOC283683,NIPA1,NIPA2 dgv9n31 15 20546001 20636690 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471512,nsv471511 M 3 CYFIP1,NIPA1,NIPA2 essv18519 15 20555858 20584363 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NIPA2 NA12763 nsv471377 15 20556790 20585849 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548107 S 3 NIPA2 nsv428297 15 20588213 21207304 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452605,nssv452606,nssv452604,nssv452603,nssv452607,nssv452600,nssv452599,nssv452602,nssv452608,nssv452601 M 62 1 9 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC283683,LOC653061,NIPA1,WHAMMP3 HGDP00460,HGDP00984,HGDP00986,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19108,NA19257 dgv2248n71 15 20592297 20715756 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903568,nsv903570,nsv903571,nsv903569,nsv903572 M 6533 5 0 LOC283683,NIPA1 IS33136,IS33888,IS36273,MS17678,SP50915 nsv471378 15 20594722 20638284 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548108 S 3 NIPA1 nsv94557 15 20608316 20615821 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113135 M 24 NIPA1 nsv1460 15 20615844 20697030 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2100 S 9 0 1 LOC283683,NIPA1 NA18555 esv2413322 15 20617641 20618154 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530560 S 1 0 1 NIPA1 NA18507 esv4116 15 20617724 20618067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26557 S 1 0 1 Single Asian sample YH NIPA1 YH esv1007853 15 20617837 20617970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584685 S 3 0 1 NIPA1 HuRef esv1025847 15 20617842 20617976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361758 S 2 0 1 NIPA1 HuRef nsv9185 15 20638816 20683073 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20051,nssv21234 M 31 0 2 Samples from several populations that are part of the HapMap project. LOC283683 NA12872,NA18975 esv32994 15 20641685 20679775 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96316 S 51 0 1 LOC283683 22371 esv2421839 15 20645664 20685685 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018868,essv5017106,essv5120291,essv5046336,essv5053059,essv5102521,essv5094597,essv5058730,essv5064372,essv5090503,essv5128228,essv5156573,essv5007308,essv5131832,essv5010199,essv5040757,essv5020862,essv5022892,essv5129247,essv5150834,essv5102392,essv5105193,essv5112210,essv5137322,essv5104221,essv5051944,essv5026300,essv5004986,essv5113220,essv5118948,essv5058789 M 1184 0 31 LOC283683 NA10835,NA11993,NA12249,NA12753,NA12762,NA12864,NA12872,NA17983,NA18151,NA18156,NA18506,NA18507,NA18532,NA18542,NA18571,NA18597,NA18610,NA18611,NA18615,NA18634,NA18641,NA18642,NA18645,NA18647,NA18949,NA18962,NA18975,NA18978,NA19000,NA19057,NA19059 esv29493 15 20653642 20654517 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18307 S 451 1 0 LOC283683 NA12156 esv1461638 15 20656038 20656038 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687819 S 2 1 0 LOC283683 HuRef nsv442360 15 20659585 20675140 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC283683 nsv832927 15 20681465 20848143 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451670 S 95 1 0 GOLGA8IP,HERC2P2,WHAMMP3 nsv903573 15 20702957 21234149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592691 S 6533 1 0 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC653061,WHAMMP3 IS39243 nsv9186 15 20729790 20733738 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25103 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv9187 15 20757317 20759164 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25128 S 31 0 1 Samples from several populations that are part of the HapMap project. WHAMMP3 NA19132 nsv9188 15 20760941 20806479 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27077,nssv25153 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19132,NA19221 nsv832928 15 20762791 20918715 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451671 S 95 1 0 GOLGA8IP,HERC2P2 dgv698e1 15 20762791 21066294 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11192,essv23022,essv22531,essv8309,essv3007,essv71,essv13168,essv556,essv2613,essv16757,essv12423,essv19218,essv20212,essv24246,essv7040,essv13590,essv15040,essv15731,essv9016,essv21669,essv12789,essv2213,essv19647,essv6358,essv14198,essv13739,essv16666,essv23554,essv21204,essv23375,essv19404,essv23794,essv22520,essv8345,essv4288,essv9121,essv23870,essv4775,essv10858,essv7315,essv22907,essv8130,essv17201,essv17916,essv21009,essv16306,essv21447,essv4392,essv12641,essv16004,essv1957,essv17574,essv13703,essv383 M 271 0 0 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7 NA06991,NA06993,NA07348,NA10838,NA10856,NA11830,NA11832,NA11840,NA11882,NA12003,NA12248,NA12264,NA12717,NA12750,NA12760,NA12762,NA12763,NA12812,NA12814,NA18500,NA18501,NA18570,NA18573,NA18603,NA18609,NA18612,NA18620,NA18858,NA18860,NA18871,NA18872,NA18959,NA18960,NA18971,NA18981,NA18990,NA18991,NA18998,NA19102,NA19103,NA19119,NA19120,NA19127,NA19129,NA19131,NA19132,NA19140,NA19142,NA19153,NA19161,NA19171,NA19206,NA19211,NA19238 dgv699e1 15 20762791 21365850 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10548,essv24717,essv18720 M 271 0 0 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7,LOC653061,MIR4508,MKRN3 NA11829,NA12874,NA19240 esv28050 15 20769611 21066254 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18631,esv20281,esv12106,esv19653,esv21100,esv12442,esv17857,esv15896,esv14149,esv15597,esv14194,esv16346,esv18379 M 451 15 5 GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7 NA06985,NA07037,NA11894,NA11931,NA12044,NA12156,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18858,NA18861,NA18916,NA19108,NA19147,NA19190,NA19240 nsv433430 15 20796527 21065361 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463311 S 9 1 0 Samples from several populations that are part of the HapMap project. GOLGA8E,GOLGA8IP,HERC2P2,HERC2P7 NA19240 nsv832929 15 20817422 21003113 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451672,nssv1451673,nssv1451674 M 95 3 0 GOLGA8E,HERC2P2,HERC2P7 dgv2249n71 15 20836955 21172300 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903575,nsv903574,nsv903577,nsv903578 M 6533 4 0 GOLGA8E,HERC2P2,HERC2P7,LOC653061 IS33192,IS34185,IS35717,IS35726 nsv903576 15 20848031 21065361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538876 S 6533 0 1 GOLGA8E,HERC2P2,HERC2P7 MS13795 nsv9189 15 20852984 21155521 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22861,nssv22686,nssv21294,nssv19330,nssv21964,nssv21740,nssv22803,nssv25420,nssv27107,nssv25017,nssv25762,nssv20242,nssv21925,nssv24125,nssv21710,nssv21858,nssv21586,nssv24924,nssv24949,nssv21626,nssv22627,nssv21543,nssv27087,nssv24992,nssv21616,nssv24869,nssv25784,nssv22349,nssv21573,nssv21955,nssv21918,nssv22715,nssv21888,nssv21556,nssv20912,nssv24194,nssv21985,nssv20272,nssv20882,nssv19699,nssv21656,nssv25370,nssv23093,nssv23336,nssv22774,nssv22569,nssv25395,nssv22832,nssv21264,nssv25208,nssv21306,nssv23035,nssv27097,nssv22657 M 31 13 19 Samples from several populations that are part of the HapMap project. GOLGA8E,HERC2P2,HERC2P7,LOC653061 NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18552,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv1010587 15 20853105 20931136 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586463 S 3 0 1 HERC2P2 HuRef dgv700e1 15 20894308 21066294 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18169,essv18289 M 271 0 0 GOLGA8E,HERC2P2,HERC2P7 NA10846,NA12057 nsv471379 15 20986537 20999864 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548109,nssv548110,nssv548112 M 3 GOLGA8E nsv482175 15 20986537 20999864 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558536 S 1 1 0 GOLGA8E KB1 dgv2250n71 15 20987445 21218853 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903579,nsv903581 M 6533 2 0 GOLGA8E,LOC653061 IS31169,IS38148 nsv903580 15 20997150 21234149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581038 S 6533 0 1 GOLGA8E,LOC653061 IS35492 dgv2251n71 15 21038099 21240037 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903584,nsv903583,nsv903582 M 6533 5 0 LOC653061 IS31166,IS31359,IS31703,IS34648,IS34895 esv1002586 15 21059462 21066254 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586079 S 3 0 1 "" HuRef esv24908 15 21116334 21160516 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19030,esv16935,esv11993 M 451 3 2 LOC653061 NA11894,NA12878,NA18502,NA19108,NA19190 nsv832930 15 21117261 21206778 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451675 S 95 0 1 LOC653061 dgv2252n71 15 21136460 21247710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903585,nsv903591,nsv903590,nsv903589 M 6533 0 7 LOC653061 IS35675,IS36179,IS36450,MS15601,SP55882,SP56005,SP56116 nsv9190 15 21160864 21163215 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25233 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC653061 NA19132 dgv2253n71 15 21163586 21219533 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903587,nsv903586 M 6533 0 20 LOC653061 IS30434,IS30553,IS30766,IS31570,IS32523,IS32602,IS33232,IS33256,IS35148,IS35403,IS35763,IS36681,IS37775,IS38148,IS38634,IS40416,IS41456,MS16588,SP55791,SP56614 nsv903588 15 21163586 21234149 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576500,nssv1588443,nssv1576189,nssv1584313,nssv1572558,nssv1546341,nssv1588014,nssv1578537,nssv1595494,nssv1568609,nssv1582775,nssv1596171,nssv1547308,nssv1594061,nssv1598266,nssv1600483,nssv1600499,nssv1598076,nssv1581199,nssv1564558,nssv1600218,nssv1579715,nssv1594812,nssv1564772,nssv1596782,nssv1578494,nssv1558580,nssv1539817,nssv1586661,nssv1565086,nssv1528006,nssv1527955,nssv1583996,nssv1599569,nssv1594924,nssv1593949,nssv1595513,nssv1586157,nssv1531397,nssv1578418,nssv1596646,nssv1592904,nssv1594240,nssv1558093,nssv1566844,nssv1571337,nssv1579690,nssv1528153,nssv1577386,nssv1572578,nssv1591561,nssv1598864,nssv1586178,nssv1562949,nssv1583655,nssv1565551,nssv1531149,nssv1573599,nssv1539992,nssv1564184,nssv1544976,nssv1593321,nssv1583981,nssv1587959,nssv1573142,nssv1556276,nssv1582871,nssv1564751,nssv1572508,nssv1590379,nssv1595625,nssv1536114 M 6533 6 66 LOC653061 IS30178,IS30238,IS30294,IS30295,IS30352,IS30466,IS30953,IS31317,IS32697,IS33087,IS33136,IS33143,IS33243,IS33460,IS33935,IS34081,IS34432,IS34772,IS34791,IS34804,IS35165,IS35169,IS35533,IS36153,IS36195,IS36563,IS36766,IS36777,IS36973,IS37651,IS37683,IS37909,IS38143,IS38145,IS38199,IS38503,IS38987,IS39316,IS39400,IS39642,IS39676,IS39722,IS40031,IS40063,IS40239,IS40241,IS40296,IS40429,IS40582,IS40636,IS40802,IS40862,IS40874,IS41687,IS41860,IS41889,IS41892,MS10351,MS10433,MS12630,MS14513,MS14639,MS16616,MS17156,MS17310,MS21868,MS23110,MS23401,MS25789,SP81088,SP81106,SP81145 dgv2254n71 15 21163586 21278748 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903593,nsv903592 M 6533 2 0 LOC653061 IS35558,SP52113 nsv510654 15 21166511 21252672 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618923 S 4 0 1 "" NA10860 esv24107 15 21171375 21230237 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13640,esv13202 M 451 7 2 "" NA06985,NA12489,NA18508,NA18523,NA18861,NA19108,NA19114,NA19147,NA19240 esv2421585 15 21172300 21222425 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138549,essv5107532,essv5151096,essv5032750,essv5133647,essv5021785,essv5090649,essv5095990,essv5026418,essv5120181,essv5085723,essv5129440,essv5004724,essv5073500,essv5068348,essv5018599,essv5057971,essv5026345,essv5105051,essv5124860,essv5037452,essv5020248,essv5103146,essv5060848,essv5061365,essv5160329,essv5100269,essv5016998,essv5115145,essv5051521,essv5131430,essv5083616,essv5033191,essv5119795 M 1184 0 34 "" NA06985,NA06991,NA10843,NA11919,NA12489,NA18696,NA18910,NA19443,NA19652,NA19675,NA19679,NA19780,NA19794,NA20527,NA20847,NA20851,NA20861,NA20870,NA20876,NA20877,NA20879,NA20894,NA21086,NA21099,NA21100,NA21101,NA21102,NA21104,NA21105,NA21109,NA21113,NA21115,NA21117,NA21434 esv8825 15 21185016 21185078 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31266 S 1 1 0 "" SJK nsv903594 15 21192987 21396290 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539262 S 6533 1 0 MIR4508,MKRN3 MS14281 nsv518410 15 21200233 21244499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695841 S 2026 0 1 "" nsv456638 15 21200233 21270922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533933 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01330 dgv288n27 15 21200233 21326637 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456639,nsv456641,nsv456642 M 1557 3 0 "" HGDP01063,HGDP01072,HGDP01074 nsv1461 15 21203223 21236433 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2101 S 9 0 1 "" NA18555 nsv832931 15 21212934 21365850 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451676 S 95 1 0 MIR4508,MKRN3 nsv903595 15 21219533 21300901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570303 S 6533 0 1 "" IS31875 nsv498840 15 21222885 21226699 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585701 S 9 0 1 "" esv1093072 15 21222917 21226724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296118 S 2 0 1 "" HuRef nsv820479 15 21223298 21224812 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421109 S 1 0 1 "" NA10851 nsv9192 15 21227472 21230323 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25042,nssv21603,nssv20302,nssv19729,nssv20942 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA18517,NA18572,NA18942 esv1512380 15 21236667 21236667 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145803 S 2 1 0 "" HuRef esv1555226 15 21236688 21236688 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869222 S 2 1 0 "" HuRef esv1232887 15 21236703 21236703 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167516 S 2 1 0 "" HuRef esv4762 15 21236742 21237389 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27203 S 1 1 0 Single Asian sample YH "" YH esv1787082 15 21236773 21236773 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350726 S 2 1 0 "" HuRef esv1172124 15 21236943 21236943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126959 S 2 1 0 "" HuRef nsv522641 15 21244499 21343866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706040 S 2026 1 0 "" esv32644 15 21250564 21250823 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93676 S 51 1 0 "" 21972 esv2534277 15 21258512 21259375 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304155 S 1 1 0 "" NA18507 esv1383065 15 21258681 21258681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844427 S 2 1 0 "" HuRef esv2346599 15 21260886 21261322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981562 S 1 0 1 "" NA18507 nsv513422 15 21294483 21294808 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625820 S 1 1 0 "" 1 nsv94785 15 21316963 21317028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113363 M 24 "" nsv94891 15 21317172 21317172 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113469 M 24 "" esv23911 15 21333501 21334096 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20955 S 451 0 4 "" NA11894,NA11931,NA12006,NA12749 nsv903596 15 21459780 21855761 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539263 S 6533 1 0 NDN MS14281 esv26849 15 21524649 21526048 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15721 S 451 0 1 "" NA19108 nsv525483 15 21525066 21526575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701612 S 2026 0 1 "" nsv1462 15 21535498 21549305 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5540 S 9 0 1 "" NA19129 esv4989 15 21543150 21547137 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27430 S 1 0 1 Single Asian sample YH "" YH nsv498841 15 21543179 21547037 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585702 S 9 0 1 "" esv25602 15 21543260 21547057 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10815 S 451 0 4 "" NA18523,NA18858,NA18861,NA19129 nsv514768 15 21544924 21546700 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628227 S 1414 0 1 "" nsv510655 15 21578517 21626577 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618924 S 4 0 1 "" NA10860 nsv9193 15 21605507 21791826 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23121,nssv21633,nssv24151,nssv27117,nssv25806,nssv20332,nssv22599,nssv22305,nssv20111,nssv21800,nssv21994,nssv20972,nssv22379,nssv24220,nssv24974,nssv19625,nssv25067,nssv22217,nssv25258,nssv22890,nssv19360,nssv21324,nssv21948,nssv23364,nssv22015,nssv19789,nssv21336,nssv21646,nssv21686 M 31 29 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820653 15 21606307 21612931 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421110 S 1 0 1 "" NA10851 dgv423n67 15 21606307 21621255 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827243,nsv827242 M 31 2 0 "" AK4,NA18972 esv29528 15 21606451 21612788 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15043 S 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv827244 15 21606479 21612807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441497 S 31 0 1 "" NA18969 dgv701e1 15 21606530 21610088 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19489,esv941 M 271 0 0 "" NA12750 esv2421624 15 21606530 21612590 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142338,essv5029007,essv5015740,essv5147273,essv5013644,essv5043309,essv5065379,essv5142608,essv5113621,essv5075749,essv5138252,essv5113400,essv5023057,essv5108838,essv5032050,essv5092457,essv5127514,essv5019135,essv5006132,essv5016556,essv5142267,essv5102599,essv5150567,essv5012200,essv5149424,essv5044434,essv5047012,essv5013135,essv5025278,essv5025146,essv5117666,essv5080217,essv5033875,essv5053903,essv5052760,essv5057144,essv5098568,essv5018221,essv5085666 M 1184 0 39 "" NA07014,NA07031,NA10861,NA11840,NA11995,NA12750,NA18518,NA18519,NA18857,NA18934,NA18935,NA19102,NA19108,NA19147,NA19184,NA19186,NA19214,NA19215,NA19332,NA19385,NA19437,NA19448,NA19463,NA19625,NA19708,NA19777,NA19778,NA19818,NA19835,NA19921,NA20319,NA20332,NA20333,NA20360,NA20508,NA20528,NA21440,NA21451,NA21577 nsv442689 15 21606534 21610186 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv819458 15 21606642 21616857 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418589 S 2 1 0 "" AK1 nsv518053 15 21609833 21612590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694195 S 2026 0 1 "" nsv1463 15 21610456 21643325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2102 S 9 1 0 "" NA18555 esv5489 15 21611602 21682830 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27930 S 1 0 0 "" SJK esv5300 15 21658775 21659047 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27741 S 1 0 1 Single Asian sample YH "" YH dgv42n6 15 21658807 21658969 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv94321,nsv94411 M 24 "" esv2502125 15 21681456 21682561 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328960 S 1 1 0 "" NA18507 esv270347 15 21681919 21682227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496583,essv2502951,essv2494951,essv2498476,essv2513368,essv2495536,essv2501247,essv2498814,essv2512091,essv2498156,essv2502106 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18507,NA18520,NA18858,NA18907,NA18916,NA19093,NA19138,NA19238,NA19240,NA19257 esv272277 15 21681932 21682031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584204,essv2583877 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv527812 15 21697815 21698499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704306 S 2026 0 1 "" nsv903597 15 21709419 21763702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600790 S 6533 0 1 "" IS41924 esv24556 15 21731007 21732247 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10556 S 451 1 0 "" NA18508 nsv456643 15 21732081 21767963 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533938 S 1557 0 1 "" 1782681169_A nsv903598 15 21747545 21776756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517423 S 6533 0 1 "" SP57270 nsv522679 15 21753780 21755026 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706087 S 2026 1 0 "" nsv471228 15 21753780 21768857 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545607 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00645 esv2642132 15 21757872 21759346 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224495 S 1 0 1 "" NA18507 esv2116291 15 21757966 21758648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586470 S 1 0 1 "" NA18507 esv4641 15 21758082 21758561 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27082 S 1 0 1 Single Asian sample YH "" YH esv5669 15 21758142 21758463 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28110 S 1 0 1 "" SJK esv24548 15 21776498 21777019 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18713 S 451 1 0 "" NA11894 esv2751512 15 21785862 22023100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988810,essv6987598,essv6984482,essv6984483,essv6984484 M 771 1 0 PWRN2 BEC_711 nsv9194 15 21803314 21816040 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19655 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 essv22238 15 21805431 22153795 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PWRN2 NA12044 dgv702e1 15 21805431 22452007 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6666,essv11601,essv24520,essv14470,esv844,essv23951,essv12527 M 271 0 0 PWRN1,PWRN2 NA12802,NA12814,NA18608,NA19201,NA19207 nsv428298 15 21805431 22452007 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452629,nssv452617,nssv452619,nssv452618 M 62 0 4 PWRN1,PWRN2 HGDP00449,HGDP00450,HGDP01087,NA19181 nsv832932 15 21805449 21990643 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451677 S 95 0 1 PWRN2 esv28010 15 21808054 21815286 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13168 S 451 0 1 "" NA12239 nsv442361 15 21809024 21826358 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv289n27 15 21855761 22083695 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456647,nsv456646,nsv456644 M 1557 0 3 PWRN2 1782681099_A,HGDP00313,HGDP00574 nsv471229 15 21855761 22163077 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545612,nssv545613,nssv545611,nssv545614,nssv545615,nssv545608,nssv545616,nssv545609,nssv545617 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PWRN2 HGDP00313,HGDP00323,HGDP00356,HGDP00542,HGDP00574,HGDP00581,HGDP00605,HGDP00892,HGDP01362 nsv9195 15 21875893 22345515 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25912,nssv22335,nssv21032,nssv25475,nssv22045,nssv20362,nssv25498,nssv25521,nssv25117,nssv25544,nssv25828,nssv27127,nssv19540,nssv19480,nssv19510,nssv21002,nssv19390,nssv21896,nssv23149,nssv25092,nssv19450,nssv21716,nssv21746,nssv25567,nssv25870,nssv22135,nssv21836,nssv25849,nssv25891,nssv23205,nssv21866,nssv22075,nssv23177,nssv22024,nssv22919,nssv21806 M 31 3 12 Samples from several populations that are part of the HapMap project. PWRN2 NA07029,NA10839,NA11830,NA12155,NA12802,NA18502,NA18517,NA18537,NA18860,NA18942,NA18980,NA19007,NA19221 nsv903599 15 21879501 21927715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505754 S 6533 0 1 "" SP53894 nsv517191 15 21880811 22365675 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666206,nssv667677,nssv686675,nssv691014,nssv668422,nssv681606,nssv688152,nssv673176,nssv671771,nssv657316,nssv671845,nssv672348,nssv691999,nssv652765,nssv673080,nssv654207,nssv661491,nssv668843,nssv665746,nssv667723,nssv701268,nssv673504,nssv653974,nssv685958,nssv680508,nssv685978,nssv683886,nssv686737,nssv661102,nssv655709,nssv688419,nssv664479,nssv686492,nssv674409,nssv687545,nssv705355,nssv679019,nssv671394,nssv685757,nssv667494,nssv672441,nssv672563,nssv655650,nssv658766,nssv679076,nssv687323,nssv662141,nssv659715,nssv674251,nssv704509,nssv668333,nssv664728,nssv672262,nssv656393,nssv673559,nssv670835,nssv688221,nssv655327,nssv667215,nssv674471,nssv655806,nssv665610,nssv693461,nssv661406,nssv671869,nssv667495,nssv689260,nssv668154,nssv660622,nssv706011,nssv678047,nssv673946,nssv684499,nssv652198,nssv673706,nssv659849,nssv688082,nssv684332,nssv686947,nssv686808,nssv695530,nssv691473,nssv691351,nssv663261,nssv664915,nssv674556,nssv681691,nssv700266,nssv685636,nssv663473,nssv663472,nssv669474,nssv662272,nssv663983,nssv676656,nssv663942,nssv685436,nssv655168,nssv690953,nssv679400,nssv665222,nssv658167,nssv654001,nssv674364,nssv689333,nssv678939,nssv681422,nssv694852,nssv678893,nssv670093,nssv693567,nssv668586,nssv679615,nssv685837,nssv666047,nssv681690,nssv660100,nssv664499,nssv657297,nssv652046,nssv684500,nssv672858,nssv704699,nssv691646,nssv671912,nssv654316,nssv687518,nssv693760,nssv690442,nssv655628,nssv667565,nssv691976,nssv662984,nssv652623,nssv668009,nssv668100,nssv685437,nssv674604,nssv656632 M 2026 44 95 PWRN1,PWRN2 esv22983 15 21881157 22346531 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11582,esv16334,esv16811,esv18653,esv18763,esv16080,esv12404,esv19350,esv10988 M 451 34 13 PWRN2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv2255n71 15 21881545 22108988 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903609,nsv903615,nsv903607,nsv903601,nsv903608,nsv903602,nsv903600 M 6533 0 8 PWRN2 IS31763,MS10105,MS12138,MS12157,MS12387,MS17703,SP55084,SP55878 nsv832933 15 21886511 22055073 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451679,nssv1451678,nssv1451680 M 95 3 0 PWRN2 essv13971 15 21892118 21931984 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19098 essv19124 15 21892118 22072791 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PWRN2 NA12044 dgv102e55 15 21892118 22076598 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751513,esv2751517,esv2751518 M 771 0 3 PWRN2 BEC_515,BEC_560,BEC_589 dgv103e55 15 21892118 22150299 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751514,esv2751515 M 771 0 2 PWRN2 BEC_336,BEC_58 dgv2256n71 15 21897319 22022238 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903617,nsv903618,nsv903614,nsv903613,nsv903603 M 6533 6 0 PWRN2 IS31849,IS37149,IS38538,IS40318,MS11171,MS16616 nsv903604 15 21897319 22031708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568800 S 6533 1 0 PWRN2 IS31338 dgv290n27 15 21897319 22036253 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456657,nsv456653,nsv456665,nsv456645 M 1557 0 4 PWRN2 1780854535_A,HGDP00285,HGDP00581,HGDP00892 dgv2257n71 15 21897319 22056668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903605,nsv903620,nsv903619 M 6533 0 4 PWRN2 IS32888,MS18748,MS21449,SP52329 nsv903606 15 21897319 22056668 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525158,nssv1533260,nssv1586208,nssv1561209,nssv1523879,nssv1559505,nssv1580496 M 6533 4 3 PWRN2 IS35342,IS37689,MS11064,MS24003,MS24877,SP54239,SP55537 dgv2258n71 15 21897319 22270877 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903611,nsv903612,nsv903640,nsv903610,nsv903616 M 6533 0 6 PWRN2 IS30459,IS32259,IS32518,IS37520,IS37996,IS39886 esv1605053 15 21900974 21901182 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859322 S 2 0 1 "" HuRef esv33584 15 21901594 22021522 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98154 S 51 0 1 PWRN2 21772 nsv456648 15 21905523 21984535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533943 S 1557 0 1 PWRN2 1782681176_A dgv291n27 15 21905523 21985041 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456649,nsv456650 M 1557 2 0 PWRN2 HGDP00155,NINDS_103 dgv292n27 15 21905523 22036253 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456654,nsv456652 M 1557 2 0 PWRN2 1780854511_A,HGDP00445 nsv817669 15 21905523 22036253 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417006 S 112 0 1 PWRN2 NA12044 dgv293n27 15 21905523 22083695 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456659,nsv456669,nsv456655,nsv456666 M 1557 4 0 PWRN2 HGDP00888,HGDP00925,HGDP01231,NINDS_240 nsv456656 15 21905523 22218390 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533951 S 1557 1 0 PWRN2 NINDS_62 nsv471230 15 21905523 22284088 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545620,nssv545619,nssv545618 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PWRN2 HGDP00881,HGDP00925,HGDP01231 esv2751516 15 21908300 22005479 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983937,essv6983936,essv6987451,essv6983938 M 771 1 0 PWRN2 BEC_735 dgv2259n71 15 21912090 22330633 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903621,nsv903654,nsv903634 M 6533 3 0 PWRN2 IS35470,MS15600,SP54119 esv2421544 15 21914925 22036921 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091908,essv5135467,essv5057613,essv5100904,essv5089266,essv5161115,essv5137353,essv5098049,essv5115163,essv5159206,essv5154778,essv5069387,essv5147861,essv5159819,essv5036962,essv5065194,essv5118189 M 1184 0 17 PWRN2 NA12044,NA19332,NA19682,NA19725,NA19727,NA19788,NA19795,NA19796,NA21103,NA21107,NA21303,NA21336,NA21356,NA21453,NA21455,NA21457,NA21614 nsv903622 15 21927715 21989968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499992 S 6533 0 1 PWRN2 SP50171 dgv2260n71 15 21927715 22008663 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903623,nsv903624 M 6533 11 0 PWRN2 IS30435,IS30814,IS32841,IS33721,IS33797,IS37543,IS38475,IS39348,IS39940,IS40031,IS41803 dgv294n27 15 21927715 22023095 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456658,nsv456661 M 1557 0 2 PWRN2 HGDP00356,HGDP00724 dgv703e1 15 21931984 22001524 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20684,essv25087,essv2740 M 271 0 0 PWRN2 NA12802,NA12814,NA18965 nsv456660 15 21932976 21985041 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533955 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PWRN2 HGDP00359 nsv817670 15 21932976 21985041 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417491 S 112 0 1 PWRN2 NA18965 nsv456664 15 21932976 22014147 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533959 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PWRN2 HGDP00535 nsv442362 15 21937718 21985625 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PWRN2 dgv295n27 15 21948655 22036253 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456673,nsv456672,nsv456675,nsv456668,nsv456667,nsv456670,nsv456671 M 1557 0 7 PWRN2 HGDP00058,HGDP00392,HGDP00444,HGDP00538,HGDP00542,HGDP00673,HGDP01362 dgv2261n71 15 21948712 22056668 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903632,nsv903625,nsv903626,nsv903629 M 6533 10 0 PWRN2 IS30084,IS30292,IS31722,IS33839,IS33935,IS35083,IS38293,IS38549,IS39944,IS39991 esv2751519 15 21948712 22098514 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985224,essv6985223 M 771 1 0 PWRN2 SPC_128 dgv2262n71 15 21959459 22036253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903630,nsv903627,nsv903628 M 6533 0 8 PWRN2 IS32411,IS32686,IS35222,IS35336,IS37964,IS37993,IS40130,IS41795 nsv456676 15 21959459 22083695 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533971 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PWRN2 HGDP00090 nsv436196 15 21960661 22029756 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465511 S 2 0 1 Samples from several populations that are part of the HapMap project. PWRN2 NA18505 dgv2263n71 15 21965262 22036253 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903631,nsv903636 M 6533 2 37 PWRN2 IS30080,IS30163,IS30300,IS30325,IS30330,IS30520,IS31300,IS31346,IS33219,IS33263,IS33772,IS34613,IS34701,IS34762,IS34779,IS34791,IS35167,IS36269,IS36536,IS36559,IS38098,IS38131,IS38199,IS38461,IS38507,IS38600,IS39627,IS39780,IS40387,IS40557,IS41166,IS41497,IS41905,IS41983,MS12345,MS18248,MS22279,MS25941,MS26145 dgv2264n71 15 21965262 22108988 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903648,nsv903633 M 6533 2 0 PWRN2 MS15317,SP51356 nsv436054 15 21965792 22348054 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465512 S 2 1 0 PWRN2 NA15510 dgv704e1 15 21971346 22295736 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13253,essv1979,essv1593 M 271 0 0 "" NA18942,NA19201 dgv296n27 15 21972416 22072791 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456681,nsv456677 M 1557 0 2 "" HGDP00956,HGDP01244 nsv456678 15 21972416 22218390 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533973 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01096 nsv903635 15 21975505 22023095 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596221 S 6533 1 0 "" IS40446 dgv2265n71 15 21975505 22036253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903642,nsv903637,nsv903641 M 6533 0 15 "" IS30423,IS30432,IS30515,IS30669,IS35475,IS35911,IS37992,IS38455,IS39721,IS40907,IS40943,IS41045,IS41839,IS41979,MS26123 nsv903638 15 21975505 22056668 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540586,nssv1551882,nssv1595569 M 6533 1 2 "" IS40264,MS14923,MS19002 dgv2266n71 15 21975505 22096612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903649,nsv903652,nsv903639,nsv903651,nsv903644,nsv903643,nsv903647 M 6533 0 36 "" IS30082,IS30174,IS31649,IS32810,IS34051,IS34523,IS34931,IS35422,IS35506,IS35802,IS35880,IS36364,IS36727,IS37605,IS37963,IS37974,IS38146,IS39352,IS40197,IS40818,IS41791,IS41857,MS12895,MS14978,MS15084,MS16208,MS20196,MS22770,MS24439,MS25943,MS26110,SP50774,SP53569,SP56223,SP56531,SP57654 dgv297n27 15 21979391 22036253 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456680,nsv456679 M 1557 0 2 "" HGDP00323,HGDP00740 dgv2267n71 15 21979391 22171338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903653,nsv903655,nsv903645 M 6533 0 4 "" IS30221,IS35027,MS17609,MS18956 dgv2268n71 15 21985041 22096612 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903646,nsv903650 M 6533 4 9 "" IS35486,IS38505,IS38979,IS40475,IS40520,IS40748,IS40759,IS41224,SP50562,SP55663,SP56007,SP81238,SP81403 nsv436195 15 22006271 22111484 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465513 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv456682 15 22008680 22083695 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533977 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00952 essv12056 15 22011887 22131052 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv817671 15 22019822 22083695 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416873 S 112 0 1 "" NA19238 dgv705e1 15 22022195 22380634 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6480,essv20698,essv624 M 271 0 0 PWRN1 NA12802,NA18636,NA18998 nsv442690 15 22029857 22065565 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv2269n71 15 22036253 22283074 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903662,nsv903661,nsv903660,nsv903656,nsv903659 M 6533 11 0 "" IS30129,IS31063,IS31385,IS33768,IS34382,IS34687,IS41730,IS41883,MS17958,SP55056,SP55692 nsv821473 15 22036696 22064207 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421111 S 1 0 1 "" NA10851 esv992392 15 22037151 22057608 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586660 S 3 1 0 "" HuRef esv33262 15 22038903 22055582 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99554 S 51 1 0 "" 22335 esv8373 15 22040077 22138592 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30814 S 1 0 1 "" SJK nsv510390 15 22052694 22058694 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622252 S 4 0 1 "" NA10860 dgv104e55 15 22054753 22300700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751522,esv34880,esv2751521 M 771 3 0 "" BEC_513,BEC_594,NA19201 dgv105e55 15 22054753 22300700 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34473,esv34877,esv2751520 M 771 0 3 "" NA18636,NA19207,SPC_20 esv34999 15 22054753 22383764 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978300,essv6978299,essv6987367 M 771 0 1 PWRN1 NA18998 dgv2270n71 15 22056668 22171338 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903664,nsv903657 M 6533 2 0 "" IS33531,IS39310 dgv2271n71 15 22056668 22204382 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903663,nsv903658 M 6533 3 0 "" IS39243,MS19277,SP53724 dgv298n27 15 22070875 22218390 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456691,nsv456694,nsv456686,nsv456703,nsv456697,nsv456704,nsv456690,nsv456693,nsv456698 M 1557 9 0 "" HGDP00158,HGDP00637,HGDP00694,HGDP00881,HGDP00899,HGDP01067,HGDP01076,HGDP01305,HGDP01396 dgv299n27 15 22070875 22218390 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456684,nsv456695,nsv456689,nsv456701,nsv456688,nsv456692,nsv456683,nsv456687,nsv456699,nsv456700,nsv456702 M 1557 0 11 "" HGDP00060,HGDP00100,HGDP00412,HGDP00428,HGDP00450,HGDP00747,HGDP00972,HGDP01194,HGDP01214,HGDP01246,HGDP01304 dgv300n27 15 22070875 22336293 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456705,nsv456713,nsv456709,nsv456716,nsv456708,nsv456706,nsv456719,nsv456714,nsv456721,nsv456717,nsv456722,nsv456711 M 1557 12 0 "" 1780846320_A,1780854105_A,1780854337_A,1780854444_A,1780862197_A,1780862372_A,1780862410_A,1782681023_A,1782681080_A,1782681142_A,1798860108_A,1798860217_A dgv301n27 15 22070875 22336293 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456710,nsv456715,nsv456720,nsv456712 M 1557 0 4 "" 1780862078_A,1780862202_A,1780862519_A,1782681195_A dgv706e1 15 22072791 22300674 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6926,essv5871 M 271 0 0 "" NA18555,NA18608 nsv827245 15 22075954 22219532 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435422 S 31 0 1 "" NA18942 nsv903665 15 22083695 22171338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542902 S 6533 0 1 "" MS15940 dgv106e55 15 22098514 22369000 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751525,esv34675,esv2751523 M 771 3 0 PWRN1 BEC_688,NA19205,SPC_2 dgv707e1 15 22098514 22452007 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv535,essv16475,essv6220,essv25090,essv16899,essv15923 M 271 0 0 PWRN1 NA12814,NA18636,NA18998,NA19139,NA19205 dgv2272n71 15 22112031 22283074 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903666,nsv903681 M 6533 2 0 "" IS40678,MS26050 dgv2273n71 15 22112031 22352297 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903695,nsv903667,nsv903687 M 6533 3 0 "" MS23973,SP52925,SP55557 dgv2274n71 15 22114056 22204382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903674,nsv903688,nsv903668,nsv903675,nsv903670 M 6533 0 17 "" IS35802,MS12387,MS12493,MS14637,MS17373,MS17400,MS18966,MS20247,MS20406,MS21758,MS22789,MS24374,MS25564,MS25889,SP51241,SP55355,SP56890 dgv2275n71 15 22114056 22232140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903671,nsv903698,nsv903669,nsv903677,nsv903689,nsv903691,nsv903690,nsv903697 M 6533 0 13 "" MS10103,MS12138,MS14450,MS16283,MS16793,MS19360,MS25190,SP51450,SP54127,SP54389,SP54471,SP56207,SP81381 dgv2276n71 15 22119809 22283074 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903704,nsv903705,nsv903672,nsv903703,nsv903699 M 6533 5 0 "" IS38108,IS39348,MS17255,SP50915,SP55183 dgv2277n71 15 22119809 22288804 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903678,nsv903693,nsv903700,nsv903682,nsv903692,nsv903673,nsv903694 M 6533 0 17 "" IS40062,MS11105,MS11746,MS16697,MS25440,SP50876,SP51022,SP52113,SP52308,SP52566,SP52612,SP52728,SP54726,SP55937,SP57067,SP57306,SP81464 nsv436202 15 22124555 22331585 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465514 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv2278n71 15 22125445 22255989 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903676,nsv903680,nsv903679,nsv903702 M 6533 10 28 "" IS30165,IS31763,IS33749,IS34632,IS35127,IS35624,IS38030,IS38469,IS38494,IS40076,MS10106,MS11054,MS11622,MS12017,MS12630,MS14385,MS14728,MS16337,MS17678,MS17703,MS20655,MS20885,MS23105,MS24248,SP52680,SP52913,SP53329,SP54442,SP55348,SP55456,SP55847,SP56640,SP56769,SP56802,SP56957,SP57575,SP58408,SP81146 dgv2279n71 15 22125445 22305016 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903708,nsv903683 M 6533 2 6 "" IS37248,MS10973,MS16345,MS25580,MS25885,SP50746,SP52754,SP57160 dgv2280n71 15 22125445 22336293 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903696,nsv903685,nsv903701,nsv903684,nsv903686 M 6533 0 7 "" MS17408,SP50761,SP55511,SP55764,SP57013,SP57986,SP81361 esv2421417 15 22126030 22331542 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112844,essv5075906,essv5156802,essv5104347,essv5152910,essv5137083,essv5015686,essv5076575,essv5120161,essv5058704,essv5127074,essv5022276,essv5077754,essv5083496,essv5054790,essv5133611,essv5082283,essv5014300,essv5071136,essv5031851,essv5101929,essv5083219,essv5011578,essv5124089,essv5017941,essv5015597,essv5006648,essv5140064,essv5079314,essv5016519,essv5044841,essv5086935,essv5087936,essv5107310,essv5123341,essv5136266,essv5018301,essv5035047,essv5042992 M 1184 17 22 "" NA07435,NA10843,NA11891,NA11918,NA11919,NA12287,NA12802,NA12814,NA12817,NA12827,NA17972,NA18109,NA18140,NA18160,NA18161,NA18534,NA18544,NA18555,NA18608,NA18636,NA18642,NA18939,NA18998,NA19197,NA19201,NA19207,NA19332,NA19446,NA19625,NA19664,NA19788,NA19795,NA19796,NA20281,NA20515,NA20790,NA21647,NA21648,NA21825 dgv708e1 15 22131584 22300674 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2932,essv4177,essv9954 M 271 0 0 "" NA18555,NA19007,NA19204 dgv107e55 15 22140100 22300700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751524,esv34242,esv34729 M 771 3 0 "" BEC_396,NA12802,NA12814 essv724 15 22150223 22232921 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18940 nsv817672 15 22155995 22202117 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417293 S 112 0 1 "" NA18608 nsv442363 15 22161116 22202157 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514769 15 22161954 22202144 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628228 S 1414 0 0 "" dgv2281n71 15 22163077 22331542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903706,nsv903710,nsv903713 M 6533 0 3 "" IS36411,SP52292,SP56144 dgv2282n71 15 22171338 22284089 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903707,nsv903712 M 6533 2 0 "" IS39310,MS19177 dgv2283n71 15 22171338 22383764 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903709,nsv903711,nsv903716 M 6533 3 0 PWRN1 IS39991,MS21483,MS22707 esv2474017 15 22193723 22273532 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268867 S 1 0 1 "" NA18507 dgv2284n71 15 22194216 22352297 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903715,nsv903714 M 6533 2 0 "" SP58265,SP81107 nsv1464 15 22197270 22278664 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5541 S 9 0 1 "" NA19129 dgv302n27 15 22200344 22368232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456724,nsv456725 M 1557 2 0 PWRN1 HGDP01310,HGDP01377 nsv456723 15 22200344 22368232 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534018 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PWRN1 HGDP01298 nsv832934 15 22203543 22386839 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451688,nssv1451683,nssv1451687,nssv1451685,nssv1451686,nssv1451692,nssv1451691,nssv1451690,nssv1451684,nssv1451689,nssv1451682,nssv1451681 M 95 12 0 PWRN1 dgv709e1 15 22218390 22342209 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18674,essv24341 M 271 0 0 "" NA11882,NA12056 dgv424n67 15 22223136 22255714 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827246,nsv827248 M 31 0 3 "" NA18570,NA18949,NA18973 nsv827247 15 22223136 22283122 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438448 S 31 0 1 "" NA18951 nsv442691 15 22226226 22269689 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438267 15 22228836 22265725 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470658,nssv470656,nssv470657 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA10835,NA11882,NA12761 dgv425n67 15 22230655 22269801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827249,nsv827251 M 31 0 2 "" NA18566,NA18997 nsv514770 15 22230872 22268800 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628229 S 1414 0 0 "" nsv511551 15 22232140 22270877 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626175 S 1 0 1 "" 1 nsv903717 15 22232140 22342412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541871 S 6533 0 1 "" MS15515 esv33790 15 22232480 22272810 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94702,essv98968 M 51 0 2 "" 21791,21938 nsv820281 15 22235638 22262587 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418708 S 2 0 1 "" AK1 nsv827250 15 22238790 22255714 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429674,nssv1431644 M 31 0 2 "" AK18,NA18968 nsv442692 15 22276386 22297003 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2538891 15 22295840 22335002 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249926 S 1 0 1 "" NA18507 nsv832935 15 22327673 22434972 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451693 S 95 1 0 PWRN1 nsv442364 15 22329509 22343467 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2481448 15 22342460 22349072 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164794 S 1 0 1 "" NA18507 nsv9196 15 22349714 22378088 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20392,nssv19570 M 31 1 1 Samples from several populations that are part of the HapMap project. PWRN1 NA12802,NA18942 nsv827255 15 22351163 22374677 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439968 S 31 0 1 PWRN1 NA18537 esv2508269 15 22353721 22358954 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318562 S 1 0 1 PWRN1 NA18507 esv2597023 15 22379125 22380597 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340260 S 1 0 1 PWRN1 NA18507 nsv1465 15 22389213 22424505 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1240 S 9 1 0 "" NA19240 esv4851 15 22390348 22390862 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27292 S 1 0 1 Single Asian sample YH "" YH esv1650682 15 22390410 22390732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629492 S 2 0 1 "" HuRef nsv513423 15 22422903 22423006 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625823 S 1 1 0 "" 1 nsv507769 15 22446163 22452163 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623178,nssv617894 M 4 2 0 "" CHM,NA18994 nsv819553 15 22471825 22472765 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419130 S 2 1 0 C15orf2 AK1 dgv2285n71 15 22554134 22606371 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903719,nsv903720,nsv903718 M 6533 5 0 "" SP51250,SP51457,SP52545,SP54023,SP81533 nsv513424 15 22563381 22564037 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625824 S 1 1 0 "" 1 esv1496122 15 22563787 22563787 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776231 S 2 1 0 "" HuRef nsv522887 15 22568288 22574040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698545 S 2026 0 1 "" esv267911 15 22574324 22574600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504187,essv2494776,essv2506006,essv2498490,essv2507102,essv2504701,essv2502243 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18519,NA18523,NA18858,NA18870,NA19099,NA19257 nsv519869 15 22589304 22589546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692487,nssv691104,nssv672070,nssv659192 M 2026 0 4 "" nsv525405 15 22589304 22595503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701529 S 2026 0 1 "" nsv817674 15 22589304 22598069 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416874 S 112 0 1 "" NA19239 nsv523104 15 22589304 22606395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698800 S 2026 0 1 "" esv23906 15 22598305 22598760 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12795 S 451 0 1 "" NA19114 dgv710e1 15 22606371 22689056 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13237,esv883 M 271 0 0 SNRPN NA19131 essv12116 15 22608408 22646980 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNRPN NA19173 nsv9197 15 22615585 22642722 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22409 S 31 0 1 Samples from several populations that are part of the HapMap project. SNRPN NA19173 nsv817675 15 22617453 22629880 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416597,nssv1416598 M 112 0 2 SNRPN NA19172,NA19173 nsv515875 15 22617453 22639308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685959,nssv690037,nssv678048,nssv667266,nssv681157,nssv671395,nssv661789,nssv665117,nssv704101,nssv692118 M 2026 0 10 SNRPN nsv456730 15 22617453 22666219 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534022 S 1557 0 1 SNRPN 1780862101_A nsv820045 15 22618390 22620218 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419335 S 2 1 0 SNRPN AK1 nsv514771 15 22620626 22633594 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628230 S 1414 0 1 SNRPN nsv442365 15 22620644 22635939 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SNRPN essv16379 15 22622873 22629835 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNRPN NA19172 esv34441 15 22629000 22630108 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980428,essv6987791 M 771 0 1 SNRPN NA19172 esv2598663 15 22640055 22640371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220033 S 1 0 1 SNRPN NA18507 nsv516596 15 22643359 22666219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690342,nssv657275,nssv672071,nssv657533,nssv668543,nssv692535,nssv692488,nssv655083,nssv673177,nssv660369,nssv666551,nssv656969,nssv692169,nssv688926,nssv673475,nssv670161,nssv664975,nssv681827,nssv678187,nssv662164,nssv652459,nssv663069,nssv670236,nssv652886,nssv684906,nssv669050,nssv662195,nssv651938,nssv691105,nssv686101,nssv679195,nssv694196,nssv689750,nssv693932,nssv666782,nssv652596,nssv671705 M 2026 0 37 SNRPN nsv9198 15 22648819 22651621 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27137 S 31 0 1 Samples from several populations that are part of the HapMap project. SNRPN NA19221 nsv9199 15 22658051 22669493 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22165,nssv25933,nssv25142,nssv25283,nssv25590,nssv23422 M 31 0 6 Samples from several populations that are part of the HapMap project. SNRPN NA18502,NA18517,NA18860,NA18980,NA19132,NA19144 nsv827256 15 22658078 22660235 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431645,nssv1432412 M 31 0 2 SNRPN AK18,AK20 nsv819181 15 22658107 22665249 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419808 S 2 0 1 SNRPN AK1 nsv514772 15 22658110 22659786 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628231 S 1414 0 1 SNRPN esv21872 15 22658154 22660948 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15371 S 451 0 7 SNRPN NA18502,NA18508,NA18517,NA18523,NA18858,NA19129,NA19147 nsv817676 15 22658176 22659931 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416802,nssv1416803 M 112 0 2 SNRPN NA19160,NA19161 nsv510656 15 22663610 22719766 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620080 S 4 0 1 SNRPN NA15510 esv1000872 15 22665839 22671850 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564185 S 3 0 1 SNRPN HuRef nsv512388 15 22667178 22669829 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624976 S 1 0 1 SNRPN 1 esv2653478 15 22667695 22670787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267334 S 1 0 1 SNRPN NA18507 esv1633915 15 22668086 22669829 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268758 S 2 0 1 SNRPN HuRef esv1686273 15 22677795 22677853 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735303 S 2 0 1 SNRPN HuRef esv1068695 15 22679074 22679074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034799 S 2 1 0 SNRPN HuRef esv29021 15 22845622 22885529 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18014,esv15127 M 451 2 3 SNORD116-1,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-2,SNORD116-20,SNORD116-21,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9 NA07037,NA11894,NA11993,NA11995 nsv903721 15 22873039 22997560 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550997 S 6533 1 0 IPW,PAR1,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-2,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29 MS18715 dgv426n67 15 22883835 22884992 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827258,nsv827257 M 31 0 2 SNORD116-20 NA18968,NA18999 nsv456731 15 22949437 23000830 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534023 S 1557 0 1 SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-29,SNORD115-3,SNORD115-36,SNORD115-4,SNORD115-43,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 NINDS_184 esv999310 15 22955382 22955383 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567568 S 3 1 0 "" HuRef esv1415252 15 22955383 22955383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701658 S 2 1 0 "" HuRef nsv903722 15 22966120 23065943 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589930,nssv1538689 M 6533 1 1 PAR4,SNORD115-1,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 IS38430,MS13770 esv33464 15 22967152 23432303 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100853,essv99847 M 51 2 0 PAR4,SNORD109A,SNORD109B,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-2,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-48,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,UBE3A 21656,22086 dgv51e180 15 22971107 22982471 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993451,esv1001119 M 3 0 1 SNORD115-10,SNORD115-12,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 HuRef esv25915 15 22971242 23047722 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19029,esv19175,esv15837,esv15985 M 451 1 8 PAR4,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-3,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-4,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 NA07037,NA07045,NA18523,NA18916,NA19108,NA19114,NA19147,NA19190,NA19225 esv997604 15 22971787 22981757 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586413 S 3 0 1 SNORD115-10,SNORD115-12,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 HuRef nsv442366 15 22972700 22981332 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SNORD115-10,SNORD115-12,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 esv2422156 15 22972700 22981336 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090045,essv5087443,essv5039838,essv5157970,essv5068863,essv5115753,essv5031803,essv5102428,essv5039798,essv5032839,essv5124326,essv5088754,essv5041510 M 1184 0 13 SNORD115-10,SNORD115-12,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 NA07045,NA10865,NA11892,NA11893,NA12155,NA12248,NA12708,NA12718,NA12801,NA12813,NA20543,NA20873,NA21580 nsv517360 15 22974169 23048383 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682259,nssv696030,nssv659329,nssv663541,nssv652238,nssv696699,nssv674531,nssv682283,nssv692797,nssv693282,nssv684825,nssv692746,nssv667938,nssv670778,nssv683183,nssv676338,nssv692627,nssv682319,nssv660054,nssv685663,nssv669450,nssv680793,nssv658377,nssv669796,nssv651812,nssv660121,nssv678594,nssv677940 M 2026 1 27 PAR4,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 dgv2286n71 15 22974169 23065943 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903723,nsv903725,nsv903724 M 6533 0 7 PAR4,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-47,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9 IS33162,IS35007,IS38403,IS38515,IS40799,MS10311,MS17208 esv2444453 15 23014848 23018162 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332379 S 1 0 1 SNORD115-21,SNORD115-26,SNORD115-27 NA18507 esv2430173 15 23014994 23017057 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273936 S 1 0 1 SNORD115-21,SNORD115-27 NA18507 esv2021287 15 23015473 23017947 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879291 S 1 0 1 SNORD115-21,SNORD115-27 NA18507 nsv1467 15 23020941 23059757 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9957 S 9 0 1 SNORD115-10,SNORD115-11,SNORD115-15,SNORD115-21,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44 NA18507 esv2599789 15 23022742 23029342 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272752 S 1 0 1 SNORD115-21,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34 NA18507 esv2332005 15 23023239 23028888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792765 S 1 0 1 SNORD115-21,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34 NA18507 esv2483086 15 23023851 23028215 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211995 S 1 0 1 SNORD115-21,SNORD115-32,SNORD115-33 NA18507 esv268305 15 23116740 23116825 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515440,essv2515807 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA18969 esv994643 15 23156327 23162501 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564410 S 3 0 1 UBE3A HuRef nsv1468 15 23173339 23203093 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5542 S 9 1 0 UBE3A NA19129 nsv832937 15 23198337 23368074 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451694 S 95 0 1 UBE3A esv1788582 15 23226400 23226400 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258702 S 2 1 0 UBE3A HuRef esv269850 15 23286722 23287064 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514513,essv2516672,essv2519210,essv2517423,essv2514877,essv2515294,essv2518547,essv2514939,essv2516367,essv2515938,essv2517718,essv2516213,essv2518852,essv2518247 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11918,NA12234,NA12249,NA12287,NA12812,NA12814,NA12873,NA12878,NA12891,NA19239,NA19240 esv274586 15 23286728 23287060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581981,essv2582741,essv2584806,essv2583472 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv1000729 15 23323257 23326813 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563851 S 3 1 0 "" HuRef esv1665395 15 23324488 23324488 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103173 S 2 1 0 "" HuRef esv271398 15 23334334 23334672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516783,essv2514862,essv2517933,essv2514458 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12234,NA12872,NA12874 nsv510391 15 23389702 23395702 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621419 S 4 0 1 "" NA15510 nsv9200 15 23405591 23407370 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22629 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 esv267458 15 23406321 23406406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515458,essv2518460,essv2513594 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12249,NA12287 nsv456732 15 23474311 23488126 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534024 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP10A HGDP00819 nsv527556 15 23475632 23476288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704017 S 2026 0 1 ATP10A nsv512389 15 23482175 23483630 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624978 S 1 0 1 ATP10A 1 esv2440000 15 23482191 23483897 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383408 S 1 0 1 ATP10A NA18507 nsv9201 15 23482224 23483906 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21978,nssv20452,nssv21366,nssv24177,nssv19819,nssv22659 M 31 5 1 Samples from several populations that are part of the HapMap project. ATP10A NA10863,NA12740,NA18504,NA18564,NA18572,NA18942 esv2346004 15 23482296 23483654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643431 S 1 0 1 ATP10A NA18507 dgv427n67 15 23482451 23483540 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827261,nsv827259 M 31 0 16 ATP10A AK16,AK18,AK4,AK6,NA18526,NA18537,NA18547,NA18570,NA18592,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 nsv820339 15 23482451 23483540 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421112 S 1 0 1 ATP10A NA10851 esv7296 15 23482478 23483486 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29737 S 1 0 1 ATP10A SJK esv1007072 15 23482489 23483487 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586183 S 3 1 0 ATP10A HuRef esv27156 15 23482489 23483487 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12668 S 451 5 15 ATP10A NA06985,NA11894,NA11995,NA12006,NA12287,NA12749,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 esv1005072 15 23482618 23483216 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586935 S 3 1 0 ATP10A HuRef nsv827260 15 23482618 23483216 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422169,nssv1432413,nssv1422948,nssv1425328 M 31 0 4 ATP10A AK2,AK20,NA18552,NA18997 nsv903726 15 23495573 23530616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530802 S 6533 0 1 ATP10A MS10311 nsv903727 15 23504535 23519154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546865 S 6533 0 1 ATP10A MS17208 esv275525 15 23605893 23609289 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585354 S 1250 0 1 ATP10A esv1673422 15 23611755 23611755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197929 S 2 1 0 ATP10A HuRef dgv143n21 15 23670153 23678230 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518809,nsv519720 M 2026 0 2 "" nsv819684 15 23680400 23689055 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419877 S 2 1 0 "" AK1 esv271016 15 23692308 23692648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526000,essv2522797,essv2543860,essv2570809,essv2545657,essv2576686,essv2544508,essv2552010,essv2547393,essv2559577,essv2564125,essv2562046,essv2537596,essv2546737,essv2544997,essv2523527,essv2553006,essv2541230,essv2565178,essv2534785,essv2539753,essv2549581,essv2541588,essv2563616,essv2572583,essv2559168,essv2533957,essv2555374,essv2566515,essv2534240,essv2522410,essv2577166,essv2571940,essv2574856,essv2545180,essv2571290,essv2536181,essv2537933,essv2548901,essv2533389,essv2554737,essv2525125 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA11918,NA11931,NA11992,NA11993,NA12003,NA12154,NA12414,NA12489,NA12717,NA12776,NA12828,NA12874,NA12878,NA12892,NA18526,NA18537,NA18542,NA18545,NA18558,NA18561,NA18563,NA18564,NA18592,NA18603,NA18609,NA18638,NA18916,NA18943,NA18948,NA18959,NA18960,NA18970,NA18973,NA19138,NA19172,NA19238 esv273541 15 23692310 23692639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582195,essv2583049,essv2584334 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv25393 15 23739059 23739742 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10876 S 451 1 0 LOC100128714 NA18523 esv22481 15 23769313 23770203 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21341 S 451 4 0 LOC100128714 NA12828,NA12878,NA19114,NA19190 esv34047 15 23802940 23972678 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC100128714,LOC503519 esv27437 15 23832349 23832849 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10324 S 451 0 1 LOC100128714 NA19190 nsv832938 15 23873180 24052544 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451695 S 95 1 0 LOC503519 esv24913 15 23873715 23875153 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20651 S 451 0 1 "" NA19114 esv2553795 15 23900491 23901909 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172409 S 1 0 1 "" NA18507 nsv832939 15 23937860 24028356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451696 S 95 1 0 "" nsv522418 15 23944295 23953694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705771 S 2026 0 1 "" esv29599 15 23952132 23952958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12725 S 451 0 1 "" NA19108 nsv456733 15 24110136 24187765 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534025 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01187 nsv471231 15 24110136 24187765 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545622 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01187 nsv523476 15 24115184 24130941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699238 S 2026 0 1 "" nsv903728 15 24141923 24251106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542414 S 6533 0 1 "" MS15779 esv1511011 15 24213647 24213647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944289 S 2 1 0 "" HuRef esv8457 15 24297638 24297754 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30898 S 1 1 0 "" SJK dgv428n67 15 24300165 24303565 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827262,nsv827263 M 31 0 5 "" AK12,AK6,NA18592,NA18942,NA18949 esv5179 15 24300212 24303612 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27620 S 1 0 1 Single Asian sample YH "" YH esv6236 15 24300274 24303508 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28677 S 1 0 1 "" SJK esv26117 15 24300291 24303491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20321 S 451 0 2 "" NA12004,NA12006 dgv144n21 15 24310156 24446174 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524934,nsv525893 M 2026 2 0 GABRB3 nsv469894 15 24354353 24542057 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649915 M 265 0 0 Samples from several populations that are part of the HapMap project. GABRB3 esv28925 15 24398735 24407165 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15103 S 451 1 0 GABRB3 NA12878 esv268286 15 24423583 24423926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515488,essv2514935,essv2516358,essv2518075,essv2516906,essv2519070,essv2513878,essv2518863,essv2518284,essv2519355 M 157 10 0 Samples from several populations that are part of the HapMap project. GABRB3 NA07346,NA12249,NA12812,NA12814,NA12872,NA12892,NA19141,NA19143,NA19239,NA19240 esv274626 15 24423587 24423922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583131,essv2584645,essv2583282 M 7 3 0 Samples from several populations that are part of the HapMap project. GABRB3 NA12892,NA19239,NA19240 esv1400114 15 24513080 24513080 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834704 S 2 1 0 GABRB3 HuRef nsv827264 15 24567346 24571664 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433204 S 31 1 0 GABRB3 NA18972 esv2525462 15 24571716 24573221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379285 S 1 0 1 "" NA18507 esv2239397 15 24572407 24573086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748918 S 1 0 1 "" NA18507 esv3815 15 24572517 24572980 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26256 S 1 0 1 Single Asian sample YH "" YH esv1100006 15 24572589 24572897 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317936 S 2 0 1 "" HuRef esv8789 15 24572595 24572898 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31230 S 1 0 1 "" SJK esv23657 15 24663328 24664438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15283 S 451 0 1 GABRA5 NA12004 nsv456734 15 24900346 24954817 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534026 S 1557 0 1 GABRG3 1780862101_A esv22505 15 24972371 24977196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18386 S 451 0 1 GABRG3 NA12776 nsv437173 15 24981296 24999114 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467054 S 60 0 1 Samples from several populations that are part of the HapMap project. GABRG3 NA10851 nsv9203 15 24985426 24992820 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22688,nssv24246,nssv24203,nssv24999,nssv22195,nssv25613,nssv21676,nssv22365,nssv21354,nssv21663,nssv20141,nssv25308,nssv25984,nssv22054,nssv21830,nssv21926,nssv21092,nssv19685,nssv22948,nssv23233,nssv19600,nssv22247,nssv20482,nssv27177,nssv23450,nssv22469,nssv22008,nssv25197,nssv19849,nssv21456 M 31 30 0 Samples from several populations that are part of the HapMap project. GABRG3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv827266 15 24985922 24992133 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441499 S 31 0 1 GABRG3 NA18969 nsv820788 15 24985922 24992482 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421114 S 1 0 1 GABRG3 NA10851 esv24852 15 24985945 24992482 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18611 S 451 39 0 GABRG3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820165 15 24985952 24992393 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419774 S 2 1 0 GABRG3 AK1 nsv438268 15 24992741 25000416 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470659,nssv470660 M 269 0 2 Samples from several populations that are part of the HapMap project. GABRG3 NA10851,NA12056 nsv525863 15 25030590 25050032 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702060 S 2026 1 0 GABRG3 esv22196 15 25052789 25054413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20562 S 451 0 1 GABRG3 NA19190 nsv524957 15 25059321 25072946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700978 S 2026 0 1 GABRG3 esv4698 15 25065941 25066187 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27139 S 1 0 1 Single Asian sample YH GABRG3 YH esv996941 15 25065988 25066091 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583320 S 3 0 1 GABRG3 HuRef esv1031890 15 25065988 25066092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823078 S 2 0 1 GABRG3 HuRef nsv94466 15 25065989 25066092 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113044 M 24 GABRG3 esv997057 15 25092669 25093256 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587164 S 3 0 1 GABRG3 HuRef esv2634934 15 25131684 25137968 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173235 S 1 0 1 GABRG3 NA18507 nsv94798 15 25152911 25152911 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113376 M 24 GABRG3 nsv9204 15 25289965 25291796 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25333 S 31 0 1 Samples from several populations that are part of the HapMap project. GABRG3 NA19132 esv32599 15 25301194 25457050 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99495 S 51 1 0 GABRG3 22335 esv2573297 15 25303533 25304114 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229556 S 1 1 0 GABRG3 NA18507 esv1147352 15 25303968 25303968 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109530 S 2 1 0 GABRG3 HuRef esv2079283 15 25306807 25307208 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811263 S 1 0 1 GABRG3 NA18507 esv1041247 15 25306938 25307110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598314 S 2 0 1 GABRG3 HuRef esv1762053 15 25374556 25374556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266577 S 2 1 0 GABRG3 HuRef esv34176 15 25380256 25692912 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GABRG3,OCA2 nsv832940 15 25402066 25564738 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451697 S 95 0 1 GABRG3 nsv903730 15 25426340 25492753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591247 S 6533 1 0 GABRG3 IS38660 esv1006704 15 25437628 25438196 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586319 S 3 1 0 GABRG3 HuRef esv2484353 15 25438997 25440022 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168632 S 1 1 0 GABRG3 NA18507 esv270591 15 25439358 25439694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558005,essv2576116,essv2540868,essv2546266,essv2521080,essv2525974,essv2542332,essv2536593,essv2522866,essv2544020,essv2556527,essv2545300,essv2531709,essv2577601,essv2548214,essv2521747,essv2525298,essv2534966,essv2554120,essv2520306,essv2547312,essv2529384,essv2558378,essv2578010,essv2565447,essv2576443,essv2520123,essv2564145,essv2537574,essv2528642,essv2546690,essv2530472,essv2539935,essv2520878,essv2557545,essv2557092,essv2552714,essv2551671,essv2532053,essv2569391,essv2578562,essv2550104,essv2558815,essv2537104,essv2539042,essv2527373,essv2561460,essv2544946,essv2562852,essv2523745,essv2552760,essv2541397,essv2542989,essv2540585,essv2524520,essv2564921,essv2534607,essv2539752,essv2549400,essv2519596,essv2559882,essv2565966,essv2532918,essv2567752,essv2528827,essv2541508,essv2570275,essv2563727,essv2553120,essv2535701,essv2572460,essv2559093,essv2566737,essv2541910,essv2551137,essv2569031,essv2543618,essv2556204,essv2562166,essv2539447,essv2534032,essv2578449,essv2573256,essv2555280,essv2533586,essv2555655,essv2566585,essv2529969,essv2555853,essv2534235,essv2531603,essv2573501,essv2543077,essv2572028,essv2525630,essv2529492,essv2575518,essv2575300,essv2538676,essv2526542,essv2560536,essv2524005,essv2574949,essv2530355,essv2568598,essv2545138,essv2560237,essv2549818,essv2571169,essv2545744,essv2574416,essv2551326,essv2538118,essv2549122,essv2533091,essv2547702,essv2563503 M 157 117 0 Samples from several populations that are part of the HapMap project. GABRG3 NA07000,NA07037,NA07051,NA07347,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12006,NA12043,NA12045,NA12144,NA12156,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12761,NA12812,NA12814,NA12815,NA12828,NA12878,NA12891,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272631 15 25439359 25439693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581771,essv2582522,essv2583160,essv2583917,essv2584535,essv2583653 M 7 6 0 Samples from several populations that are part of the HapMap project. GABRG3 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1935732 15 25491451 25491785 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977213 S 1 0 1 "" NA18507 nsv1469 15 25500504 25535399 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4142 S 9 1 0 "" NA12878 nsv1470 15 25584526 25607437 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5543 S 9 0 1 "" NA19129 esv2422179 15 25591185 25601401 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057752,essv5152243,essv5026651,essv5150377,essv5111485,essv5055494,essv5117842,essv5032260,essv5009393,essv5155215,essv5141241,essv5106017,essv5160583,essv5075861,essv5039359,essv5074905,essv5027463,essv5106018,essv5002692,essv5064275,essv5018919,essv5136165,essv5056295,essv5126867,essv5051511,essv5098716,essv5124645,essv5100456,essv5053762,essv5156952,essv5104824,essv5111510,essv5015433,essv5021934,essv5052362,essv5044801,essv5123148,essv5106822,essv5095590,essv5076090,essv5136332,essv5009937,essv5115115,essv5024320,essv5096764,essv5054128,essv5037722,essv5047235,essv5010688,essv5014747,essv5028077,essv5070678,essv5151738,essv5008616,essv5016749,essv5146811,essv5069012,essv5055831,essv5141255,essv5050039,essv5155541,essv5097418,essv5134204,essv5089872,essv5042282,essv5118916,essv5009950,essv5125891,essv5075937,essv5052814,essv5031142,essv5079906,essv5018004,essv5052302,essv5083064,essv5147963,essv5136483,essv5051930,essv5030046,essv5026508,essv5031112,essv5015098,essv5108869,essv5133190,essv5073956,essv5020618,essv5101642,essv5007594,essv5149062,essv5090773,essv5064667,essv5102141,essv5026827,essv5128890,essv5032185,essv5059609,essv5042210,essv5019417,essv5072405,essv5024480,essv5096877,essv5134876,essv5149332,essv5080973,essv5026727,essv5012148,essv5156452,essv5149113,essv5077656,essv5151588,essv5039258,essv5042758,essv5027649,essv5054684,essv5113946,essv5023357,essv5076225,essv5044393,essv5119524,essv5062465,essv5099483,essv5121134,essv5057461,essv5141694,essv5136434,essv5005377,essv5117617,essv5016424,essv5031574,essv5142690,essv5044356,essv5157291,essv5040331,essv5093287,essv5035698,essv5018056,essv5025907,essv5094558,essv5111443,essv5049337,essv5156951,essv5068291,essv5040291,essv5151769,essv5146382,essv5063487,essv5105603,essv5075487,essv5003641,essv5049347,essv5150604,essv5140136,essv5100681,essv5042545,essv5140716,essv5070804,essv5131462,essv5002688,essv5111607 M 1184 0 159 "" NA18484,NA18486,NA18505,NA18506,NA18507,NA18508,NA18510,NA18517,NA18518,NA18519,NA18520,NA18852,NA18854,NA18867,NA18871,NA18872,NA18910,NA18911,NA18917,NA18933,NA19036,NA19038,NA19041,NA19113,NA19114,NA19116,NA19118,NA19120,NA19121,NA19122,NA19123,NA19127,NA19129,NA19131,NA19132,NA19140,NA19141,NA19143,NA19149,NA19153,NA19154,NA19160,NA19175,NA19176,NA19178,NA19180,NA19182,NA19183,NA19190,NA19191,NA19193,NA19197,NA19199,NA19203,NA19204,NA19206,NA19208,NA19214,NA19222,NA19225,NA19236,NA19237,NA19256,NA19258,NA19314,NA19315,NA19350,NA19352,NA19360,NA19375,NA19382,NA19390,NA19394,NA19396,NA19397,NA19398,NA19399,NA19428,NA19430,NA19435,NA19437,NA19439,NA19443,NA19455,NA19463,NA19467,NA19471,NA19472,NA19663,NA19704,NA19705,NA19714,NA19719,NA19721,NA19750,NA19789,NA19900,NA19901,NA19902,NA19908,NA19909,NA19982,NA19985,NA20126,NA20128,NA20277,NA20282,NA20284,NA20301,NA20322,NA20336,NA20340,NA20343,NA20345,NA20346,NA20347,NA20348,NA20803,NA21300,NA21301,NA21302,NA21308,NA21344,NA21353,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21388,NA21421,NA21423,NA21424,NA21425,NA21439,NA21447,NA21473,NA21475,NA21485,NA21486,NA21487,NA21488,NA21490,NA21573,NA21575,NA21577,NA21596,NA21597,NA21599,NA21600,NA21601,NA21631,NA21635,NA21636,NA21647,NA21648,NA21719,NA21740 nsv442693 15 25591185 25601401 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2627084 15 25591625 25602090 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305373 S 1 0 1 "" NA18507 nsv436192 15 25591725 25601685 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465515 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2654468 15 25591964 25602359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179243 S 1 0 1 "" NA18507 esv2077506 15 25592281 25601650 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639563 S 1 0 1 "" NA18507 nsv498842 15 25592460 25601465 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585703 S 9 0 1 "" esv29427 15 25592675 25601589 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14378 S 451 0 9 "" NA18505,NA18508,NA18517,NA18523,NA18907,NA19114,NA19129,NA19190,NA19225 nsv514773 15 25593844 25601142 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628232 S 1414 0 1 "" esv2424346 15 25641383 25641440 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241822 S 1 0 1 "" NA18507 nsv903731 15 25669300 25954430 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541295 S 6533 1 0 OCA2 MS15220 nsv1471 15 25697533 25717399 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2103 S 9 0 1 OCA2 NA18555 esv2126699 15 25708635 25709071 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996692 S 1 0 1 OCA2 NA18507 nsv94457 15 25767608 25767608 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113035 M 24 OCA2 nsv456735 15 25822196 25911504 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534027 S 1557 0 1 OCA2 1780854417_A nsv903732 15 25822716 25870589 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499290 S 6533 1 0 OCA2 SP50171 nsv903733 15 25824657 25902239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522723 S 6533 0 1 OCA2 SP53401 nsv1472 15 25838807 25872189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5544 S 9 1 0 OCA2 NA19129 esv269728 15 25848536 25848650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510185,essv2500843,essv2511241,essv2504482,essv2499402,essv2508046,essv2505537,essv2512265,essv2502914,essv2495854,essv2503389,essv2508532,essv2502586,essv2507760,essv2493427,essv2493360,essv2504987,essv2508846,essv2500311,essv2502832,essv2494378,essv2500376,essv2497129,essv2507819,essv2506316,essv2511317,essv2494403,essv2508132,essv2508608,essv2509982,essv2498416,essv2505739,essv2502633,essv2500776,essv2505661,essv2498724,essv2496996,essv2511978,essv2501815,essv2498205,essv2503649,essv2503877,essv2513119 M 157 43 0 Samples from several populations that are part of the HapMap project. OCA2 NA06986,NA07037,NA10847,NA10851,NA11830,NA11931,NA11993,NA11994,NA12045,NA12154,NA12155,NA12156,NA12489,NA12716,NA12717,NA12750,NA12751,NA12763,NA12776,NA12828,NA12878,NA12891,NA12892,NA18502,NA18537,NA18552,NA18564,NA18566,NA18570,NA18572,NA18579,NA18592,NA18593,NA18858,NA18861,NA18965,NA18973,NA19005,NA19138,NA19190,NA19238,NA19239,NA19240 esv273744 15 25848538 25848675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581892,essv2582604,essv2583201,essv2583897,essv2584514,essv2583785 M 7 6 0 Samples from several populations that are part of the HapMap project. OCA2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1746753 15 25848566 25848566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190695 S 2 1 0 OCA2 HuRef esv267642 15 25852867 25853078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506784,essv2499381,essv2512464,essv2508578,essv2507779 M 157 5 0 Samples from several populations that are part of the HapMap project. OCA2 NA11918,NA11994,NA12043,NA12717,NA12751 nsv903734 15 25905388 25990241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500442 S 6533 1 0 OCA2 SP50171 nsv428299 15 25961165 26861560 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452639,nssv452638,nssv452641,nssv452637,nssv452644,nssv452640,nssv452645 M 62 0 7 GOLGA8F,GOLGA8G,HERC2,HERC2P9,LOC100289656,LOC646278,MIR4509-1,MIR4509-2,MIR4509-3,OCA2,WHAMMP2 HGDP00450,HGDP00460,HGDP00472,HGDP00986,NA18498,NA19108,NA19147 dgv2287n71 15 25968517 26054856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903736,nsv903735 M 6533 0 2 HERC2,OCA2 MS10311,MS18276 nsv903737 15 26047607 26094645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499726 S 6533 1 0 HERC2 SP50171 essv14482 15 26086062 26254807 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. HERC2 NA19202 dgv712e1 15 26086062 26378746 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21172,essv4372,essv10524,essv4784 M 271 0 0 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 NA11830,NA18573,NA18620,NA19240 dgv713e1 15 26086062 26763830 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1829,essv13669,essv24251,essv1011,essv21423,essv13592,essv20558,essv16735,essv10294,essv18742,essv16711,essv19661,essv81,essv24654,esv293,essv10643,essv23036,essv20184,essv10834,essv17120,essv16045,essv2220 M 271 0 0 GOLGA8F,GOLGA8G,HERC2,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3 NA07056,NA10856,NA11829,NA11832,NA12264,NA12717,NA12812,NA12874,NA18501,NA18506,NA18855,NA18871,NA18872,NA18960,NA18976,NA18991,NA19005,NA19119,NA19127,NA19142,NA19171 esv2475219 15 26103244 26104185 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252546 S 1 1 0 HERC2 NA18507 nsv903738 15 26104352 26126935 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499325 S 6533 1 0 HERC2 SP50171 nsv469883 15 26118311 26332902 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649904 M 265 1 0 Samples from several populations that are part of the HapMap project. GOLGA8F,GOLGA8G,HERC2 esv28855 15 26121887 26158746 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18365 S 451 1 0 HERC2 NA19240 nsv9205 15 26122560 26159247 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22225,nssv25636,nssv25024,nssv27187,nssv21384,nssv21706,nssv24272 M 31 5 2 Samples from several populations that are part of the HapMap project. HERC2 NA18502,NA18552,NA18972,NA18975,NA18980,NA19221,NA19240 nsv903739 15 26152547 26199823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499650 S 6533 1 0 HERC2 SP50171 nsv9206 15 26168147 26175237 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19630,nssv22499 M 31 0 2 Samples from several populations that are part of the HapMap project. HERC2 NA12802,NA19173 nsv9207 15 26184487 26190890 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21474 S 31 1 0 Samples from several populations that are part of the HapMap project. HERC2 NA18975 dgv714e1 15 26199529 26641134 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3057,essv21286,essv8153,essv12336,essv21560 M 271 0 0 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 NA10855,NA12873,NA18981,NA19138,NA19206 nsv9208 15 26200607 26246293 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22977,nssv24328,nssv22717,nssv22255 M 31 1 3 Samples from several populations that are part of the HapMap project. HERC2 NA11830,NA12740,NA18980,NA19240 esv22824 15 26201755 26378706 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16962,esv21243,esv13784,esv10322,esv18731 M 451 17 14 GOLGA8F,GOLGA8G,HERC2,MIR4509-1,MIR4509-2,MIR4509-3 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 dgv2288n71 15 26208861 26717846 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903740,nsv903742,nsv903741 M 6533 3 0 GOLGA8F,GOLGA8G,HERC2,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3 IS34185,IS35717,IS39243 nsv433431 15 26219120 26343350 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463312 S 9 1 0 Samples from several populations that are part of the HapMap project. GOLGA8F,GOLGA8G,HERC2 NA19240 nsv903743 15 26240225 26343350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598896 S 6533 1 0 GOLGA8F,GOLGA8G,HERC2 IS40928 nsv9209 15 26251815 26252620 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21693,nssv21122 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048 nsv9210 15 26263442 26265287 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25659,nssv21956,nssv22038,nssv24354,nssv21860 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18564,NA18853,NA19007,NA19240 nsv509562 15 26328672 26345831 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621006,nssv623671 M 4 2 0 MIR4509-1,MIR4509-2,MIR4509-3 NA15510,NA18994 nsv820602 15 26331840 26344956 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421115 S 1 1 0 "" NA10851 esv26019 15 26478772 26742609 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11754,esv13880,esv15209,esv13134,esv16997,esv9937,esv15964,esv18967,esv11781 M 451 14 14 GOLGA8F,GOLGA8G,HERC2P9,MIR4509-1,MIR4509-2,MIR4509-3 NA06985,NA11894,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 nsv832941 15 26487795 26681850 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451700,nssv1451699,nssv1451698 M 95 2 1 GOLGA8F,GOLGA8G,MIR4509-1,MIR4509-2,MIR4509-3 nsv821425 15 26535721 26543238 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421116 S 1 1 0 "" NA10851 nsv469678 15 26599826 26763830 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649608 M 265 0 0 Samples from several populations that are part of the HapMap project. HERC2P9 dgv715e1 15 26599827 26763830 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14187,essv11128,essv23344,essv20665,essv7325,essv15469 M 271 0 0 HERC2P9 NA12750,NA12892,NA18505,NA18570,NA19140,NA19211 nsv471678 15 26599827 26763830 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549971,nssv549970,nssv549953,nssv549963,nssv549975,nssv549964,nssv549960,nssv549957,nssv549967,nssv549956,nssv549959,nssv549965,nssv549974,nssv549969,nssv549972,nssv549976,nssv549973,nssv549955,nssv549961,nssv549962,nssv549978,nssv549954,nssv549958,nssv549968,nssv549977,nssv549966 M 48 0 26 HERC2P9 JK1051,JK1058,JK1061,NA10470,NA10472,NA10473,NA10492,NA10494,NA10967,NA10969,NA10970,NA11323,NA11521,NA11523,NA11776,NA15730,NA15731,NA15732,NA16688,NA17015,NA17017,NA17020,NA17051,NA17052,NA17059,P86GA nsv9212 15 26608799 26611114 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22068,nssv24380,nssv22040,nssv22016,nssv22234,nssv25681 M 31 6 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA18502,NA18564,NA18853,NA19007,NA19240 nsv9215 15 26622123 26622738 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21723,nssv21212 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048 nsv9216 15 26627992 26700667 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21534,nssv25074,nssv24406,nssv25487,nssv25733,nssv25099,nssv21796,nssv21504,nssv27217,nssv22375,nssv23092,nssv22345,nssv21736,nssv25049 M 31 5 6 Samples from several populations that are part of the HapMap project. HERC2P9 NA11830,NA18502,NA18552,NA18972,NA18975,NA18980,NA19132,NA19221,NA19240 esv994657 15 26628256 26709739 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586178 S 3 0 1 HERC2P9 HuRef nsv832942 15 26658973 26823368 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451702,nssv1451701,nssv1451703 M 95 3 0 HERC2P9,WHAMMP2 nsv9217 15 26700567 26709981 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24432,nssv23120,nssv21826 M 31 1 2 Samples from several populations that are part of the HapMap project. HERC2P9 NA11830,NA18552,NA19240 nsv9218 15 26719786 26725185 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25755 S 31 0 1 Samples from several populations that are part of the HapMap project. HERC2P9 NA18502 esv2275943 15 26736767 26738493 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883812 S 1 0 1 "" NA18507 esv25177 15 26748304 26774250 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20202 S 451 1 0 "" NA12156 nsv9219 15 26756810 26781002 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23148,nssv27227 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA19221 nsv522597 15 26768706 28153539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705987 S 2026 0 1 APBA2,FAM189A1,LOC100289656,LOC646278,NDNL2,TJP1,WHAMMP2 esv2751526 15 26768706 28766520 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989285,essv6989576,essv6982118,essv6982119 M 771 0 1 APBA2,ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM189A1,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC100289656,LOC646278,LOC653075,NDNL2,TJP1,WHAMMP2 BEC_521 nsv527255 15 26798209 28153539 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703659 S 2026 1 0 APBA2,FAM189A1,LOC100289656,LOC646278,NDNL2,TJP1,WHAMMP2 nsv507770 15 26801865 26807865 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623180,nssv620575 M 4 2 0 WHAMMP2 NA15510,NA18994 nsv9220 15 26809863 26812517 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25510 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv9221 15 26859503 26863628 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25777 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC646278 NA18502 nsv9222 15 26875299 26877229 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24311,nssv25222,nssv21516,nssv21242,nssv21783,nssv22834 M 31 6 0 Samples from several populations that are part of the HapMap project. LOC646278 NA07029,NA07048,NA10863,NA12740,NA18504,NA18517 esv2159437 15 26887076 26887518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794285 S 1 0 1 LOC646278 NA18507 nsv9223 15 26892183 26895536 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22455 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv516384 15 27000239 27075712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655931,nssv667939,nssv654752,nssv676684 M 2026 0 4 APBA2 nsv9224 15 27026907 27028550 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26044 S 31 0 1 Samples from several populations that are part of the HapMap project. APBA2 NA18860 nsv903744 15 27057792 27134802 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520672 S 6533 1 0 APBA2 SP51203 nsv9226 15 27071575 27072777 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22405 S 31 0 1 Samples from several populations that are part of the HapMap project. APBA2 NA18980 nsv1473 15 27107945 27152397 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2104 S 9 0 1 APBA2 NA18555 dgv2289n71 15 27127239 27223516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903745,nsv903746 M 6533 0 2 APBA2,FAM189A1 MS16153,MS17208 nsv9227 15 27132904 27135118 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27237,nssv26063,nssv24458,nssv23176,nssv23261,nssv22264,nssv22128,nssv22046 M 31 8 0 Samples from several populations that are part of the HapMap project. APBA2 NA10839,NA11830,NA12155,NA18564,NA18860,NA19007,NA19221,NA19240 esv29060 15 27133968 27135228 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20738,esv15284 M 451 23 0 APBA2 NA07037,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA18517,NA18523,NA18909,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 esv29781 15 27142280 27143190 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18747 S 451 10 0 APBA2 NA11931,NA18523,NA18858,NA18907,NA18909,NA18916,NA19108,NA19114,NA19225,NA19257 nsv820943 15 27142280 27143190 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421117 S 1 0 1 APBA2 NA10851 nsv515798 15 27147693 27225769 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657133,nssv689214,nssv697105,nssv657071,nssv667283,nssv673335,nssv685533,nssv667940,nssv685637,nssv674435,nssv669148,nssv655233,nssv676232,nssv685482,nssv674745,nssv697106,nssv699590,nssv680856,nssv682130,nssv677504,nssv691870,nssv664819,nssv679219,nssv655522,nssv677652,nssv688880,nssv676848 M 2026 2 25 APBA2,FAM189A1 nsv903747 15 27148418 27796269 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520673 S 6533 1 0 APBA2,FAM189A1,NDNL2,TJP1 SP51203 dgv2290n71 15 27167056 27206037 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903748,nsv903751 M 6533 0 2 APBA2,FAM189A1 IS35484,IS38840 nsv471232 15 27167056 27219474 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545625,nssv545624,nssv545627,nssv545623,nssv545626 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA2,FAM189A1 HGDP00302,HGDP00543,HGDP00657,HGDP00661,HGDP00978 nsv524362 15 27169093 27235349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700273 S 2026 0 1 APBA2,FAM189A1 dgv2291n71 15 27173885 27229496 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903749,nsv903750,nsv903752 M 6533 0 6 APBA2,FAM189A1 IS32841,IS33504,IS37646,MS10311,MS13095,MS18276 nsv903753 15 27193989 27207673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597325 S 6533 0 1 APBA2,FAM189A1 IS40799 nsv827267 15 27196756 27197425 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437028 S 31 1 0 APBA2 NA18542 nsv9228 15 27197623 27202486 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22485 S 31 0 1 Samples from several populations that are part of the HapMap project. APBA2,FAM189A1 NA18537 esv2525505 15 27198025 27199836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317683 S 1 0 1 FAM189A1 NA18507 esv2211142 15 27198581 27199386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682027 S 1 0 1 "" NA18507 esv5086 15 27198735 27199358 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27527 S 1 0 1 Single Asian sample YH "" YH esv1006141 15 27198768 27199189 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573393 S 3 0 1 "" HuRef esv1547143 15 27198774 27199196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027348 S 2 0 1 "" HuRef nsv94575 15 27198775 27199196 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113153 M 24 "" esv6180 15 27198777 27199188 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28621 S 1 0 1 "" SJK esv2560892 15 27210590 27211359 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256347 S 1 1 0 FAM189A1 NA18507 nsv513425 15 27211008 27211080 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625825 S 1 1 0 FAM189A1 1 nsv9229 15 27237584 27241119 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22076 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM189A1 NA19007 nsv515660 15 27330404 27351927 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671370,nssv665492,nssv664278,nssv681372,nssv685292,nssv678067,nssv674085,nssv671046,nssv687493,nssv680961,nssv669149,nssv669926 M 2026 12 0 FAM189A1,NDNL2 nsv525604 15 27376764 27410092 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701748 S 2026 1 0 FAM189A1 nsv94404 15 27408861 27415637 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112982 M 24 FAM189A1 esv33949 15 27450911 27455894 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101253 S 51 0 1 FAM189A1 21618 nsv832943 15 27575626 27711576 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451705,nssv1451704 M 95 1 1 FAM189A1 esv8630 15 27598491 27598574 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31071 S 1 1 0 FAM189A1 SJK dgv303n27 15 27600069 27677098 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456738,nsv456737 M 1557 0 2 FAM189A1 1780862444_A,1780862574_A esv270017 15 27608162 27608499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496766,essv2511853,essv2494814,essv2499155,essv2497576,essv2497061,essv2499661 M 157 7 0 Samples from several populations that are part of the HapMap project. FAM189A1 NA18498,NA18499,NA18519,NA19114,NA19147,NA19190,NA19225 esv2514398 15 27608298 27609319 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277271 S 1 1 0 FAM189A1 NA18507 nsv1474 15 27622489 27652292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6624,nssv10043,nssv10927,nssv1243,nssv5545,nssv2105,nssv4143 M 9 7 0 FAM189A1 NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv511043 15 27630199 27648630 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618676,nssv622412,nssv624348,nssv621633 M 4 0 0 FAM189A1 CHM,NA10860,NA15510,NA18994 nsv99 15 27636922 27652292 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv99 S 1 1 0 FAM189A1 NA15510 esv2527875 15 27637671 27642116 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202083 S 1 0 1 FAM189A1 NA18507 nsv513426 15 27638100 27638187 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625826 S 1 1 0 FAM189A1 1 esv987980 15 27640482 27642224 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564252 S 3 1 0 FAM189A1 HuRef esv1396021 15 27640502 27640502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244238 S 2 1 0 FAM189A1 HuRef nsv827268 15 27641906 27664736 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427066 S 31 1 0 FAM189A1 AK6 dgv429n67 15 27646845 27653516 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827269,nsv827270 M 31 2 0 FAM189A1 NA18526,NA18947 nsv827271 15 27647631 27651977 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433205 S 31 1 0 FAM189A1 NA18972 nsv832944 15 27648354 27869349 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451706,nssv1451707,nssv1451708 M 95 1 2 FAM189A1,TJP1 esv2068343 15 27667874 27668251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905188 S 1 0 1 "" NA18507 nsv9230 15 27687785 27690547 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26082,nssv21564,nssv22136,nssv27247,nssv20512,nssv19715 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA10847,NA18860,NA18942,NA18975,NA19007,NA19221 nsv518921 15 27687810 27689622 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696382 S 2026 0 1 "" esv26388 15 27688002 27690442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14769 S 451 0 5 "" NA12156,NA12828,NA18858,NA19129,NA19147 dgv430n67 15 27688409 27690380 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827274,nsv827273,nsv827272 M 31 0 9 "" AK14,AK18,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973 esv3292 15 27688438 27690475 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25733 S 1 0 1 Single Asian sample YH "" YH esv33098 15 27688623 27690198 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93137,essv95239,essv99090,essv96397 M 51 0 4 "" 21863,21872,21938,22371 nsv514774 15 27688668 27690228 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628233 S 1414 0 1 "" nsv523728 15 27693153 27693511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699544 S 2026 0 1 "" nsv832945 15 27719891 27911013 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451709 S 95 1 0 TJP1 esv25786 15 27770434 27770939 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18527 S 451 1 0 "" NA19147 esv2422463 15 27790481 28002628 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161377 S 181 1 0 TJP1 ND05461 dgv2292n71 15 27810746 28169412 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903755,nsv903754 M 6533 2 0 TJP1 SP51203,SP55026 nsv819003 15 27851664 27853135 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419269 S 2 0 1 TJP1 AK1 nsv827275 15 27897558 27902928 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433207 S 31 1 0 TJP1 NA18972 nsv456739 15 27965906 28153539 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534030 S 1557 1 0 "" NINDS_129 nsv521157 15 28007716 28016505 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699090,nssv683163,nssv685638,nssv702778 M 2026 4 0 "" nsv903756 15 28007716 28068397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579882 S 6533 0 1 "" IS35181 esv2751527 15 28033100 28393128 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987497,essv6984122 M 771 1 0 DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC653075 BEC_779 esv33332 15 28070248 28073164 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95670 S 51 0 1 "" 21841 esv2385261 15 28076355 28076809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870064 S 1 0 1 "" NA18507 dgv716e1 15 28080236 28805754 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv842,essv13607,essv19200,essv8229,essv15091,essv10734,essv22044,essv15867,essv12305,essv11877,essv24748,essv15746,essv22409,essv9017,essv17780,essv24257,essv13763,essv7417,essv20430,essv14461,essv16681,essv2602,essv13699,essv4279,essv14189,essv13164,essv10258,essv14525,essv24581,essv11130,essv9464,essv11708,essv20956,essv13042,essv12471,essv17670,essv5020,essv19969,essv21212,essv7748,essv21131,essv9995,essv14990,essv18332,essv23800,essv10818,essv16812,essv16239,essv894,essv5735,essv21319 M 271 0 0 ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC653075 NA10830,NA10831,NA10856,NA10860,NA10861,NA11830,NA11881,NA11992,NA11994,NA12154,NA12763,NA12801,NA12813,NA12815,NA12865,NA12878,NA18523,NA18542,NA18576,NA18593,NA18603,NA18623,NA18852,NA18870,NA18871,NA18872,NA18973,NA18990,NA19000,NA19099,NA19102,NA19116,NA19119,NA19127,NA19129,NA19131,NA19132,NA19138,NA19140,NA19142,NA19152,NA19153,NA19154,NA19161,NA19201,NA19202,NA19207,NA19208,NA19211,NA19221,NA19223 nsv428300 15 28080236 28838997 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452660,nssv452654,nssv452657,nssv452648,nssv452658,nssv452651,nssv452650,nssv452656,nssv452652,nssv452655,nssv452647,nssv452649 M 62 0 12 ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC653075 HGDP00450,HGDP00467,HGDP00471,HGDP00474,HGDP00478,HGDP01089,NA18498,NA18916,NA19096,NA19113,NA19181,NA19257 dgv717e1 15 28080236 28964768 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2162,esv816 M 271 0 0 ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC653075 NA18960 nsv832946 15 28106102 28294834 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451712,nssv1451711,nssv1451710,nssv1451714,nssv1451713 M 95 1 4 DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC653075 nsv9231 15 28122573 28124317 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21272 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 nsv518720 15 28133522 28894118 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696171 S 2026 1 0 ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC653075 esv1008245 15 28153749 28232300 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586537 S 3 1 0 FAM7A1,FAM7A2,FAM7A3,LOC653075 HuRef nsv903757 15 28156445 28966826 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592694 S 6533 1 0 ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC653075 IS39243 nsv9232 15 28172136 28877839 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22256,nssv25247,nssv22196,nssv23345,nssv23317,nssv27360,nssv27315,nssv27351,nssv22166,nssv25533,nssv23289,nssv23403,nssv23232,nssv27324,nssv23204,nssv23260,nssv22226,nssv27342,nssv19939,nssv23288,nssv23316,nssv27267,nssv27306,nssv25124,nssv25842,nssv25821,nssv25799,nssv19909,nssv22286,nssv27333,nssv22070,nssv27257,nssv21856,nssv19879 M 31 2 9 Samples from several populations that are part of the HapMap project. ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC100288637,LOC653075 NA11830,NA12155,NA18502,NA18517,NA18552,NA18572,NA18853,NA18972,NA19007,NA19132,NA19221 nsv903758 15 28177029 28223008 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525796 S 6533 0 1 FAM7A1,FAM7A2,FAM7A3,LOC653075 SP56818 esv25154 15 28177895 28213930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15111 S 451 0 3 FAM7A1,FAM7A2,FAM7A3 NA07045,NA18523,NA19129 nsv903759 15 28188067 28671952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565698 S 6533 1 0 CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC653075 IS30506 nsv821679 15 28189706 28658691 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421308 S 31 1 0 CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,FAM7A3,LOC653075 nsv903760 15 28206818 28246827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524834 S 6533 1 0 FAM7A1,FAM7A2,FAM7A3,LOC653075 SP55321 dgv2293n71 15 28225953 28492124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903771,nsv903768,nsv903761,nsv903769,nsv903763,nsv903762,nsv903770 M 6533 0 19 CHRFAM7A,DKFZP434L187,LOC653075 IS31821,IS37738,IS38596,IS41840,MS11165,MS13783,MS14264,MS14809,MS15145,MS15752,MS18837,MS19502,MS20747,MS21841,MS24701,SP52448,SP55362,SP56304,SP57665 esv26291 15 28227867 28475484 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11875,esv16684,esv14925 M 451 2 5 CHRFAM7A,DKFZP434L187 NA07045,NA12156,NA12749,NA12828,NA12878,NA18523,NA18909 nsv509563 15 28234186 28279698 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621007 S 4 1 0 DKFZP434L187 NA15510 nsv442695 15 28235887 28289587 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DKFZP434L187 dgv2294n71 15 28246827 28355641 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903779,nsv903764 M 6533 0 2 DKFZP434L187 MS12917,MS22093 dgv2295n71 15 28246827 28384348 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903766,nsv903784,nsv903765 M 6533 0 3 DKFZP434L187 IS31837,SP52439,SP53407 dgv2296n71 15 28246827 28492124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903790,nsv903787,nsv903788,nsv903767,nsv903785,nsv903781,nsv903780,nsv903786 M 6533 0 13 CHRFAM7A,DKFZP434L187 IS31825,IS33232,IS34257,IS38241,IS39078,IS40491,IS40538,IS40928,MS10999,MS24444,MS25756,SP52863,SP57208 dgv2297n71 15 28246827 28560060 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903773,nsv903772,nsv903774,nsv903782 M 6533 0 4 CHRFAM7A,DKFZP434L187 IS40402,IS40416,MS22765,SP81533 dgv2298n71 15 28246827 28632690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903778,nsv903783,nsv903775,nsv903789 M 6533 0 4 CHRFAM7A,DKFZP434L187 IS38419,IS41898,MS12743,MS21958 dgv718e1 15 28255272 28805754 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5195,essv23197,essv19681,essv7285,essv19107,essv22390,essv8427,essv1348,essv1955,essv5089 M 271 0 0 ARHGAP11B,CHRFAM7A,DKFZP434L187,FAM7A1,FAM7A2,LOC100288637 NA07055,NA12156,NA12264,NA12875,NA18516,NA18577,NA18592,NA18611,NA18959,NA19007 nsv903776 15 28257940 28343475 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545391 S 6533 1 0 DKFZP434L187 MS16772 nsv903777 15 28257940 28383327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549301 S 6533 1 0 DKFZP434L187 MS18176 esv2421738 15 28277730 28582231 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104033,essv5117326,essv5058146,essv5126715,essv5094054,essv5102255,essv5153900,essv5007270,essv5108768,essv5115991,essv5009231,essv5105650,essv5046045,essv5104312,essv5157087,essv5077887,essv5098322,essv5150931,essv5045519,essv5113317,essv5041935,essv5051704,essv5097254,essv5011713,essv5075367,essv5113623,essv5110566,essv5151244,essv5080885,essv5087117,essv5106656,essv5125431,essv5087906,essv5079347,essv5066525,essv5156149,essv5149902,essv5027889,essv5066429,essv5159075,essv5012872,essv5158597,essv5094873,essv5104913,essv5150980,essv5134485,essv5016488,essv5016157,essv5092954,essv5140466,essv5123774,essv5083166,essv5109555,essv5006138,essv5158029,essv5059308,essv5126883,essv5026122,essv5057337,essv5069178,essv5072505,essv5140810,essv5139854,essv5065991,essv5136943,essv5142311,essv5101936,essv5073924,essv5112312,essv5036972,essv5154498,essv5112518,essv5104139,essv5118763,essv5118187,essv5111246,essv5089341,essv5091911,essv5085019,essv5152731,essv5034331,essv5154589,essv5021898,essv5032759,essv5011441,essv5029639,essv5049689,essv5101390,essv5039064,essv5081772,essv5147257,essv5004677,essv5022888,essv5107790,essv5071182,essv5143851,essv5110457,essv5149836,essv5139726,essv5131906,essv5139311,essv5156155,essv5008165,essv5045211,essv5058279,essv5155363,essv5058182,essv5050956,essv5040205,essv5042944,essv5038107,essv5049480,essv5047930,essv5027001,essv5127073,essv5025578,essv5006269,essv5159416,essv5126723,essv5110419,essv5032748,essv5052424,essv5013264,essv5090297,essv5008056,essv5047161,essv5114223,essv5024525,essv5158171,essv5149970,essv5055033,essv5082132,essv5061098,essv5029808,essv5112017,essv5086373,essv5143991,essv5082405,essv5017087,essv5048090,essv5046362,essv5034460,essv5083383,essv5067043,essv5089769,essv5020610,essv5131984,essv5139184,essv5128829,essv5036686,essv5003668,essv5133284,essv5152741,essv5024359,essv5115058,essv5055344,essv5125220,essv5059694,essv5124715,essv5116190,essv5118693,essv5121550,essv5011791,essv5035604,essv5155174,essv5139933,essv5035953,essv5135178,essv5003985,essv5113203,essv5159153,essv5023930,essv5130721,essv5080528,essv5092272,essv5012754,essv5145757,essv5014437,essv5158828,essv5028619,essv5063902,essv5133221,essv5118685,essv5117312,essv5026752,essv5046504,essv5054774,essv5007976,essv5039717,essv5075493,essv5016717,essv5072705,essv5052599,essv5142795,essv5152986,essv5113547,essv5058533,essv5139175,essv5108224,essv5101737,essv5008567,essv5035913,essv5080647,essv5140563,essv5060844,essv5057453,essv5115436,essv5020405,essv5008645,essv5126146,essv5043239,essv5120725,essv5104770,essv5059138,essv5156895,essv5057388,essv5064911,essv5021162,essv5113675,essv5059603,essv5157410,essv5106712,essv5102330,essv5024853,essv5123998,essv5040187,essv5109915,essv5126223,essv5141861,essv5046801,essv5099654,essv5160647,essv5014524,essv5160169,essv5059732,essv5126181,essv5137265,essv5132377,essv5074178,essv5009162,essv5021991,essv5086462,essv5088968,essv5062010,essv5071989,essv5093778,essv5049084,essv5048578,essv5041911,essv5002823,essv5075399,essv5118490,essv5062079,essv5028050,essv5155076,essv5143226,essv5064441,essv5160751,essv5086152,essv5037827,essv5018511,essv5051060,essv5125684,essv5152525,essv5108379,essv5113148,essv5116927,essv5112906,essv5026659,essv5053377,essv5025356,essv5091133,essv5101624,essv5123867,essv5072221,essv5151281,essv5102202,essv5025109,essv5076828,essv5036841,essv5053023,essv5075132,essv5091444,essv5144766,essv5083984,essv5132152,essv5021290,essv5059813,essv5075185,essv5070634,essv5102391,essv5065385,essv5134681,essv5118999,essv5028523,essv5044460,essv5081216,essv5021543,essv5073799,essv5093019,essv5149040,essv5084806,essv5066297,essv5102591,essv5084153,essv5129604,essv5124509,essv5035743,essv5053402,essv5132114,essv5113109,essv5146743,essv5027657,essv5009388,essv5043103,essv5014176,essv5090569,essv5034851,essv5015152,essv5009074,essv5089363,essv5133168,essv5019230,essv5160301,essv5014659,essv5035151,essv5052401,essv5090230,essv5098760,essv5016050,essv5080967,essv5071045,essv5031745,essv5065299,essv5136890,essv5031330,essv5159582,essv5032271,essv5009519,essv5046549,essv5116634,essv5122557,essv5096571,essv5118834,essv5127258,essv5006186,essv5100888,essv5065318,essv5152884,essv5105622,essv5102788,essv5009464,essv5137404,essv5118886,essv5019010,essv5027014,essv5088167,essv5077899,essv5154608,essv5112917,essv5023592,essv5130777,essv5037947,essv5115127,essv5060664,essv5125926,essv5109032,essv5087337,essv5012853,essv5097733,essv5160140,essv5144498,essv5035089,essv5138286,essv5033175,essv5093100,essv5102089,essv5023707,essv5090474,essv5120771,essv5045626,essv5061904,essv5017987,essv5005533,essv5105235,essv5036203,essv5049257,essv5078503,essv5108332,essv5075863,essv5098895,essv5035777,essv5055340,essv5157985,essv5079636,essv5099565,essv5037936,essv5025033,essv5126403,essv5151717,essv5051313,essv5064960,essv5110959,essv5008573,essv5115871,essv5117831,essv5025647,essv5144540,essv5050951,essv5133487,essv5039047,essv5048018,essv5086608,essv5112753,essv5017512,essv5132546,essv5039462,essv5055625,essv5072867,essv5081596,essv5041594,essv5026859,essv5033048,essv5087804,essv5130718,essv5133641,essv5040826,essv5131590,essv5047688,essv5129584,essv5160660,essv5006835,essv5013190,essv5126347,essv5094553,essv5091699,essv5089402,essv5025081,essv5112768,essv5023387,essv5047112,essv5080102,essv5091544,essv5035871,essv5075128,essv5102910,essv5011270,essv5034152,essv5051790,essv5137073,essv5003032,essv5028735,essv5161062,essv5003809,essv5002736,essv5153242,essv5111560,essv5136222,essv5032139,essv5097979,essv5126364,essv5094611,essv5115543,essv5058705,essv5131994,essv5066413,essv5080655,essv5147179,essv5059158,essv5075443,essv5137527,essv5022883,essv5019309,essv5103584,essv5118229,essv5144922,essv5092873,essv5107369,essv5062730,essv5064516,essv5137148,essv5075899,essv5036558,essv5119176,essv5107635,essv5071311,essv5068722,essv5049232,essv5104583,essv5142374,essv5077365,essv5121306,essv5041051,essv5094913,essv5088327,essv5101263,essv5064264,essv5086068,essv5090539,essv5107742,essv5113527,essv5096299,essv5084084,essv5131684,essv5131475,essv5015578,essv5018826,essv5125544,essv5061160,essv5081766,essv5136342,essv5098743,essv5063126,essv5138320,essv5155570,essv5114099,essv5113275,essv5061532,essv5075068,essv5006726,essv5026572,essv5155835,essv5010029,essv5025838,essv5008953,essv5079462,essv5046057,essv5125674,essv5153864,essv5044678,essv5030676,essv5068636,essv5033707,essv5017724,essv5138191,essv5077032,essv5074353,essv5041915,essv5121182,essv5100718,essv5132963,essv5133842,essv5125622,essv5128493,essv5085663,essv5035622,essv5092366,essv5021822,essv5057536,essv5005667,essv5074274,essv5056056,essv5094547,essv5004067,essv5011202,essv5024356,essv5010617,essv5036274,essv5033280,essv5103237,essv5128850,essv5147642,essv5149234,essv5160710,essv5045395,essv5144198,essv5034734,essv5002267,essv5056110,essv5118244,essv5155050,essv5034567,essv5106400,essv5116751,essv5123988,essv5104042,essv5160709,essv5007275,essv5002538,essv5104670,essv5037801,essv5102706,essv5071921,essv5146181,essv5147635,essv5022416,essv5143710,essv5155011,essv5139893,essv5089052,essv5063161,essv5160333,essv5081692,essv5123444,essv5112944,essv5026614,essv5013541,essv5052610,essv5045678,essv5039464,essv5055605,essv5048279,essv5104834,essv5079851,essv5012064,essv5110100,essv5057143,essv5021173,essv5083581,essv5157839,essv5143751,essv5126976,essv5036167,essv5073925,essv5135865,essv5004886,essv5013333,essv5044501,essv5064682,essv5151509,essv5074121,essv5147379,essv5037967,essv5025239,essv5035256,essv5115308,essv5149664,essv5111290,essv5098607,essv5044872,essv5090338,essv5135104,essv5034576,essv5007316,essv5082041,essv5075541,essv5046386,essv5133809,essv5110265,essv5121703,essv5127633,essv5008309,essv5128568,essv5020176,essv5149119,essv5035212,essv5101048,essv5026772,essv5007668,essv5028298,essv5072049,essv5010356,essv5087784,essv5143268,essv5072386,essv5031277,essv5034205,essv5054815,essv5017476,essv5083402,essv5112572,essv5138711,essv5089310,essv5084147,essv5156634,essv5103686,essv5146678,essv5008694,essv5040373,essv5103486,essv5057598,essv5059850,essv5073301,essv5071715,essv5117624,essv5114355,essv5089332,essv5126118,essv5141690,essv5157321,essv5004666,essv5073756,essv5095802,essv5155242,essv5158123,essv5057469,essv5075496,essv5093935,essv5046526,essv5124617,essv5039220,essv5030106,essv5070000,essv5006432,essv5148891,essv5125892,essv5144255,essv5049487,essv5098823,essv5116351,essv5086392,essv5074439,essv5038992,essv5155053,essv5045703,essv5136272,essv5156562,essv5106777,essv5115658,essv5106496,essv5117551,essv5044080,essv5067715,essv5003962,essv5078831,essv5088488,essv5104416,essv5040045,essv5031520,essv5024819,essv5024635,essv5066259,essv5010205,essv5144094,essv5043057,essv5133363,essv5026507,essv5129740,essv5063997,essv5110876,essv5023571,essv5114753,essv5145537,essv5134374,essv5102592,essv5159043,essv5108665,essv5060341,essv5120828,essv5116285,essv5126556,essv5121096,essv5029811,essv5118936,essv5042371,essv5051851,essv5028429,essv5042041,essv5104523,essv5093912,essv5112785,essv5039801,essv5114061,essv5014897,essv5016089,essv5119752,essv5103579,essv5014348,essv5096783,essv5021728,essv5026051,essv5047785,essv5134032,essv5004298,essv5024091,essv5150274,essv5071857,essv5009480,essv5023528,essv5134542,essv5019562,essv5073303,essv5059455,essv5034328,essv5147436,essv5082963,essv5091596,essv5120946,essv5037641,essv5021391,essv5046235,essv5126224,essv5012103,essv5037974,essv5060058,essv5102999,essv5113992,essv5044212,essv5160096,essv5071495,essv5002890,essv5059753,essv5001905,essv5005339,essv5018051,essv5123382,essv5158074,essv5080172,essv5107969,essv5114862,essv5011490,essv5075888,essv5120140,essv5137683,essv5084406,essv5158203,essv5007159,essv5085306,essv5119304,essv5154648,essv5063596,essv5011587,essv5042321,essv5070835,essv5107538,essv5102320,essv5042755,essv5002849,essv5153983,essv5016548,essv5091041,essv5031046,essv5148626,essv5052165,essv5010020,essv5033312,essv5007411,essv5156852,essv5065016,essv5097019,essv5153859,essv5041710,essv5147472,essv5141748,essv5021631,essv5008886,essv5047981,essv5061629,essv5072311,essv5147019,essv5076318,essv5110327,essv5097898,essv5067420,essv5025855,essv5065800,essv5085966,essv5081038,essv5090116,essv5159046,essv5002617,essv5137872,essv5063714,essv5067746,essv5110215,essv5123554,essv5061984,essv5133275,essv5043140,essv5009669,essv5002366,essv5048683,essv5066551,essv5093265,essv5006104,essv5144254,essv5099787,essv5116179,essv5017432,essv5131886,essv5051005,essv5138581,essv5053699,essv5017341,essv5035850,essv5069060,essv5018523,essv5119875,essv5110698,essv5045909,essv5155380,essv5116771,essv5117646,essv5055744,essv5155288,essv5134007,essv5095241,essv5152634,essv5078319,essv5151841,essv5120505,essv5056506,essv5109837,essv5012669,essv5025248,essv5139607,essv5033398,essv5083150,essv5040266,essv5127088,essv5121927,essv5083719,essv5010408,essv5090074,essv5139668,essv5041878,essv5118317,essv5065459,essv5095680,essv5026617,essv5069562,essv5071884,essv5032558,essv5057764,essv5062665,essv5095536,essv5151610,essv5150911,essv5146930,essv5048193,essv5109147,essv5088243,essv5110549,essv5129897,essv5059241,essv5096463,essv5051838,essv5014979,essv5144099,essv5014744,essv5020435,essv5068417,essv5039015,essv5141738,essv5004860,essv5026883,essv5132054,essv5080913,essv5130337,essv5095795,essv5147295,essv5130554,essv5113488,essv5013695,essv5154115,essv5069792,essv5011730,essv5035543,essv5135779,essv5129104,essv5027498,essv5076256,essv5046935,essv5011812,essv5060503,essv5063560,essv5020066,essv5120105,essv5022550,essv5005501,essv5121600,essv5150661,essv5086541,essv5158331,essv5035937,essv5046318,essv5012348,essv5015966,essv5092882,essv5157840,essv5149179,essv5021767,essv5028193,essv5123840,essv5109174,essv5084173,essv5102962,essv5156757,essv5110931,essv5101228,essv5003893,essv5098243,essv5135774,essv5114895,essv5115780,essv5148671,essv5122214,essv5079120,essv5150206,essv5039948,essv5116252,essv5082128,essv5129824,essv5037194,essv5057261,essv5044656,essv5006462,essv5158306,essv5126728,essv5113977,essv5070361,essv5134423,essv5138717,essv5014246,essv5087963,essv5122292,essv5029846,essv5121057,essv5103698,essv5038511,essv5040200,essv5144026,essv5036932,essv5132237,essv5072655,essv5050940,essv5111157,essv5092297,essv5118958,essv5086135,essv5040439,essv5016253,essv5020411,essv5137225,essv5078105,essv5122704,essv5071784,essv5095165,essv5040988,essv5029909,essv5099829,essv5029030,essv5051821,essv5011442,essv5075503,essv5042880,essv5131635,essv5152662,essv5085870,essv5065259,essv5160393,essv5058678,essv5143242,essv5157502,essv5136948,essv5150510,essv5018136,essv5053521,essv5097003,essv5076309,essv5123583,essv5148080,essv5003808,essv5097803,essv5099624,essv5005249,essv5114130,essv5135564,essv5006862,essv5121328,essv5058636,essv5135349,essv5062871,essv5058057,essv5143112,essv5104111,essv5039495,essv5125791,essv5095284,essv5149107,essv5082689,essv5089542,essv5127366,essv5142153,essv5149718,essv5069025,essv5115139,essv5012383,essv5022696,essv5121648,essv5137369,essv5123301,essv5068527,essv5149054,essv5099074,essv5146738,essv5138148,essv5149397,essv5018393,essv5039473,essv5120250,essv5032072,essv5022259,essv5127132,essv5104129,essv5125025,essv5022780,essv5150754,essv5068991,essv5121154,essv5139397,essv5075752,essv5033498,essv5115807,essv5003184,essv5104321,essv5141061,essv5080345,essv5130167,essv5128383,essv5137901,essv5095635,essv5128334,essv5041964,essv5018406,essv5122409,essv5098271,essv5002217,essv5019519,essv5044683,essv5091085,essv5154309,essv5048318,essv5120917,essv5082024,essv5048101,essv5088760,essv5140393,essv5027099,essv5027781,essv5116761,essv5073289,essv5106476,essv5147140,essv5066848,essv5081182,essv5139384,essv5115809,essv5062462,essv5039316,essv5123434,essv5051972,essv5069951,essv5060591,essv5111281,essv5088770,essv5102921,essv5054230,essv5108481,essv5079454,essv5099388 M 1184 1151 0 CHRFAM7A,DKFZP434L187 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NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 dgv719e1 15 28279020 28557286 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10443,essv1014 M 271 0 0 CHRFAM7A,DKFZP434L187 NA18515,NA19005 nsv469713 15 28279021 28402108 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649734 M 265 1 41 Samples from several populations that are part of the HapMap project. DKFZP434L187 nsv471679 15 28279022 28402108 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550174,nssv550176,nssv550175,nssv550172,nssv550170,nssv550173,nssv550171 M 48 0 7 DKFZP434L187 JK1058,NA10495,NA10967,NA10969,NA15728,NA15732,P86GA nsv100 15 28289062 28290120 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv100 S 1 1 0 DKFZP434L187 NA15510 nsv1475 15 28289062 28290120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10928 S 9 1 0 DKFZP434L187 NA15510 nsv102 15 28291928 28294309 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv102 S 1 1 0 DKFZP434L187 NA15510 nsv103 15 28296937 28299029 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv103 S 1 1 0 "" NA15510 nsv104 15 28306501 28307890 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv104 S 1 1 0 "" NA15510 nsv903791 15 28308263 28492124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581203 S 6533 0 1 CHRFAM7A IS35533 nsv105 15 28311629 28312757 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv105 S 1 1 0 "" NA15510 nsv106 15 28335392 28336861 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv106 S 1 1 0 "" NA15510 dgv2299n71 15 28343475 28383327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903793,nsv903792 M 6533 0 3 "" IS34387,IS35100,IS39475 nsv903794 15 28355641 28381721 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558937 S 6533 0 1 "" MS23648 nsv903795 15 28355641 28383327 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595498,nssv1564760,nssv1586504 M 6533 2 1 "" IS30294,IS37841,IS40239 nsv903796 15 28355641 28395463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599994 S 6533 0 1 "" IS41826 dgv2300n71 15 28355641 28450215 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903797,nsv903803 M 6533 3 0 CHRFAM7A MS11632,SP54230,SP81526 nsv832948 15 28366411 28585632 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451717,nssv1451716,nssv1451715,nssv1451719,nssv1451718 M 95 1 4 CHRFAM7A dgv2301n71 15 28366574 28469473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903798,nsv903804 M 6533 0 3 CHRFAM7A IS41308,MS14368,MS15168 nsv903799 15 28366574 28492124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536702,nssv1570100 M 6533 0 2 CHRFAM7A IS31800,MS12917 nsv903800 15 28371359 28383327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566305 S 6533 0 1 "" IS30645 nsv903801 15 28371359 28395463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539687 S 6533 0 1 "" MS14450 nsv903802 15 28371359 28417642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545392 S 6533 1 0 "" MS16772 nsv903805 15 28373263 28705540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561331 S 6533 1 0 CHRFAM7A,FAM7A1,FAM7A2 MS24935 nsv107 15 28373452 28374377 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv107 S 1 1 0 "" NA15510 nsv1476 15 28373452 28374377 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10929 S 9 1 0 "" NA15510 nsv903806 15 28375554 28617103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556505 S 6533 0 1 CHRFAM7A MS22093 nsv442696 15 28377089 28536721 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CHRFAM7A nsv108 15 28381408 28384132 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv108 S 1 1 0 "" NA15510 nsv433291 15 28388061 28450215 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463172 S 9 0 1 Samples from several populations that are part of the HapMap project. CHRFAM7A NA12878 nsv109 15 28389476 28390598 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv109 S 1 1 0 "" NA15510 nsv469586 15 28392844 28570676 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649700 M 265 0 6 Samples from several populations that are part of the HapMap project. CHRFAM7A dgv720e1 15 28393128 28964768 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv963,essv3493,essv8660,essv1321,essv993,essv3914 M 271 0 0 ARHGAP11B,CHRFAM7A,FAM7A1,FAM7A2,LOC100288637 NA18960,NA18964,NA18973,NA18981,NA18999,NA19101 nsv514775 15 28393216 28462914 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628234 S 1414 0 0 CHRFAM7A nsv482176 15 28440735 28473156 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558537 S 1 1 0 CHRFAM7A KB1 esv997659 15 28457342 28505392 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586418 S 3 1 0 CHRFAM7A HuRef nsv903807 15 28501197 28560060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547547 S 6533 1 0 "" MS17438 nsv903808 15 28515105 28551368 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557170,nssv1543144,nssv1504358,nssv1545393 M 6533 2 2 "" MS16060,MS16772,MS22453,SP52439 dgv2302n71 15 28515105 28563703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903809,nsv903814 M 6533 0 2 "" MS15545,SP53407 dgv2303n71 15 28515105 28582231 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903810,nsv903815 M 6533 2 0 "" MS11632,SP56766 dgv2304n71 15 28515105 28582231 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903816,nsv903811 M 6533 5 6 "" IS31045,IS32644,IS38501,IS39722,IS40703,IS41798,MS12856,MS13148,MS14943,MS20406,MS26110 dgv2305n71 15 28515105 28610108 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903813,nsv903819,nsv903817,nsv903818,nsv903812 M 6533 0 17 "" IS31825,IS33232,IS40491,IS40538,IS40928,MS12667,MS12780,MS14264,MS14809,MS20747,MS21841,MS24444,MS24701,MS25756,SP52863,SP56818,SP57208 nsv903820 15 28537961 28597366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570167 S 6533 0 1 "" IS31821 dgv721e1 15 28542436 28805754 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16297,essv21239 M 271 0 0 ARHGAP11B,FAM7A1,FAM7A2,LOC100288637 NA11830,NA19161 esv22001 15 28600826 28607139 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15306 S 451 1 0 "" NA07037 dgv722e1 15 28605178 28939783 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2995,essv12198 M 271 0 0 ARHGAP11B,FAM7A1,FAM7A2,LOC100288637 NA18981,NA19101 esv24159 15 28638295 28881038 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16212,esv12514,esv15843,esv13453,esv15159,esv13237 M 451 2 4 ARHGAP11B,FAM7A1,FAM7A2,LOC100288637 NA06985,NA12239,NA12287,NA12414,NA18523,NA19129 nsv903821 15 28641599 28762668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525798 S 6533 0 1 ARHGAP11B,FAM7A1,FAM7A2,LOC100288637 SP56818 nsv903822 15 28686425 28953247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538809 S 6533 1 0 ARHGAP11B,LOC100288637 MS13771 nsv832949 15 28701787 28840095 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451722,nssv1451775,nssv1451733,nssv1451737,nssv1451774,nssv1451746,nssv1451744,nssv1451754,nssv1451745,nssv1451743,nssv1451730,nssv1451773,nssv1451742,nssv1451762,nssv1451727,nssv1451750,nssv1451729,nssv1451753,nssv1451747,nssv1451749,nssv1451751,nssv1451752,nssv1451748,nssv1451738,nssv1451732,nssv1451756,nssv1451757,nssv1451755,nssv1451731,nssv1451761,nssv1451758,nssv1451760,nssv1451759,nssv1451765,nssv1451736,nssv1451734,nssv1451764,nssv1451741,nssv1451726,nssv1451763,nssv1451735,nssv1451725,nssv1451768,nssv1451772,nssv1451767,nssv1451721,nssv1451771,nssv1451740,nssv1451766,nssv1451720,nssv1451770,nssv1451728,nssv1451723,nssv1451739,nssv1451769,nssv1451724 M 95 56 0 ARHGAP11B,LOC100288637 nsv903823 15 28705540 28762668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514901,nssv1506521,nssv1515216 M 6533 0 3 ARHGAP11B,LOC100288637 SP54367,SP56094,SP56138 dgv2306n71 15 28705540 28904092 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903824,nsv903825,nsv903827,nsv903826 M 6533 5 0 ARHGAP11B,LOC100288637 IS30316,IS31875,MS12475,SP52688,SP57570 esv2421741 15 28707916 28876818 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003296,essv5063675,essv5036721,essv5057072,essv5133375,essv5013202,essv5160809,essv5037622,essv5095209,essv5106562,essv5148177,essv5071722 M 1184 0 12 ARHGAP11B,LOC100288637 NA18960,NA18962,NA18964,NA18972,NA18973,NA18981,NA18999,NA19054,NA19057,NA19072,NA19077,NA19101 dgv431n67 15 28709209 28877592 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827277,nsv827278 M 31 0 2 ARHGAP11B,LOC100288637 NA18973,NA18999 esv1523587 15 28711673 28711673 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777296 S 2 1 0 ARHGAP11B HuRef essv2950 15 28717792 28896272 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARHGAP11B,LOC100288637 NA18972 esv32700 15 28719165 28758851 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95714,essv95877 M 51 0 2 LOC100288637 21841,21911 nsv471233 15 28723576 28854497 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545629,nssv545628 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100288637 HGDP00904,HGDP01214 nsv817677 15 28723577 28751864 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416098 S 112 0 1 LOC100288637 NA12813 dgv304n27 15 28723577 28854497 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456741,nsv456743,nsv456742 M 1557 3 0 LOC100288637 1782681235_A,HGDP00670,HGDP00752 nsv516317 15 28723577 28854497 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681055,nssv684420,nssv667543,nssv675083,nssv678666,nssv656090,nssv689066,nssv691184,nssv662881 M 2026 4 5 LOC100288637 nsv817678 15 28723577 28854497 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417684,nssv1417469,nssv1417569 M 112 0 3 LOC100288637 NA18960,NA18972,NA18999 nsv456744 15 28723577 28910527 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534035 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100288637 HGDP01214 nsv525795 15 28723577 29111823 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701976 S 2026 1 0 FAN1,LOC100288637,MTMR10,TRPM1 nsv903828 15 28727690 28751864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512978 S 6533 0 1 LOC100288637 SP55662 dgv2307n71 15 28727690 28762668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903830,nsv903829 M 6533 0 6 LOC100288637 SP50850,SP52025,SP54583,SP54627,SP56849,SP57226 nsv442697 15 28738294 28768337 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100288637 nsv832950 15 28741917 28933756 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451795,nssv1451785,nssv1451784,nssv1451780,nssv1451802,nssv1451783,nssv1451782,nssv1451781,nssv1451786,nssv1451787,nssv1451793,nssv1451792,nssv1451790,nssv1451789,nssv1451791,nssv1451801,nssv1451796,nssv1451776,nssv1451794,nssv1451800,nssv1451797,nssv1451798,nssv1451799,nssv1451808,nssv1451803,nssv1451779,nssv1451807,nssv1451805,nssv1451806,nssv1451804,nssv1451778,nssv1451809,nssv1451788,nssv1451777 M 95 34 0 LOC100288637 nsv1478 15 28748867 28782546 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7153 S 9 1 0 LOC100288637 NA12156 esv1537205 15 28754153 28754153 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613233 S 2 1 0 LOC100288637 HuRef nsv903831 15 28773343 29510571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583848 S 6533 1 0 FAN1,KLF13,LOC100288637,LOC283710,MIR211,MTMR10,TRPM1 IS36681 nsv510392 15 28795097 28801097 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618409 S 4 0 1 LOC100288637 CHM nsv903832 15 28808580 28875735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568831 S 6533 0 1 LOC100288637 IS31359 esv1569112 15 28834320 28834859 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276477 S 2 0 0 LOC100288637 HuRef nsv903833 15 28875735 28961979 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556220 S 6533 1 0 "" MS21863 nsv832951 15 28918531 29091761 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451820,nssv1451812,nssv1451811,nssv1451810,nssv1451814,nssv1451818,nssv1451813,nssv1451815,nssv1451816,nssv1451817,nssv1451819 M 95 0 11 FAN1,MTMR10,TRPM1 esv1469351 15 28925033 28925033 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906427 S 2 1 0 "" HuRef esv1666580 15 28926074 28926885 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108943 S 2 0 1 "" HuRef nsv521842 15 28927992 29059962 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694615 S 2026 1 0 FAN1,MTMR10 nsv903834 15 28966826 29081066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586148 S 6533 1 0 FAN1,MTMR10,TRPM1 IS37646 esv33507 15 28970616 29258315 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93977,essv101312,essv93084,essv97369,essv100247 M 51 0 5 FAN1,MIR211,MTMR10,TRPM1 21802,21805,21863,21879,22286 nsv832952 15 28991718 29121290 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451825,nssv1451822,nssv1451821,nssv1451824,nssv1451823 M 95 2 3 FAN1,MTMR10,TRPM1 esv273369 15 29049908 29050041 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579947,essv2580521,essv2578984 M 7 3 0 Samples from several populations that are part of the HapMap project. MTMR10 NA12892,NA19238,NA19239 esv271889 15 29057078 29057382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494785,essv2507157 M 157 2 0 Samples from several populations that are part of the HapMap project. MTMR10 NA18519,NA18870 nsv903835 15 29100035 29172089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561235 S 6533 1 0 MIR211,TRPM1 MS24886 nsv903836 15 29117572 29299944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586149 S 6533 1 0 MIR211,TRPM1 IS37646 nsv520825 15 29143717 29172089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683991,nssv686352,nssv676004,nssv684068 M 2026 0 4 MIR211,TRPM1 nsv456746 15 29144430 29172089 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534036 S 1557 0 1 MIR211,TRPM1 1780854419_A nsv903837 15 29149946 29206058 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511673 S 6533 1 0 TRPM1 SP55026 nsv820152 15 29156293 29156572 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419636 S 2 0 1 TRPM1 AK1 nsv903838 15 29240203 29459420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530805 S 6533 0 1 KLF13,LOC283710 MS10311 nsv1479 15 29241373 29274397 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2106 S 9 1 0 "" NA18555 nsv827279 15 29256481 29257250 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424565 S 31 0 1 "" NA18582 nsv903839 15 29282405 29363969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597326 S 6533 0 1 LOC283710 IS40799 esv34100 15 29283806 29579883 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 KLF13,LOC283710,OTUD7A nsv456747 15 29324788 29425288 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534037 S 1557 0 1 KLF13 1780862540_A esv2602863 15 29356559 29358078 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162591 S 1 0 1 "" NA18507 esv2079348 15 29357126 29358045 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837079 S 1 0 1 "" NA18507 nsv903840 15 29377262 29587441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546867 S 6533 0 1 KLF13,OTUD7A MS17208 nsv511044 15 29393838 29489905 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622413 S 4 0 0 KLF13 NA10860 nsv516681 15 29403966 29462745 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670118,nssv686976,nssv690628,nssv682017,nssv691185,nssv692188,nssv682825 M 2026 0 7 KLF13 dgv2308n71 15 29403966 29484534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903841,nsv903842 M 6533 0 2 KLF13 IS30197,MS11249 nsv827280 15 29404828 29409239 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433209 S 31 1 0 KLF13 NA18972 esv29856 15 29405123 29408330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12399 S 451 0 3 KLF13 NA07037,NA07045,NA12004 nsv456748 15 29408613 29484934 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534038 S 1557 0 1 KLF13 NINDS_124 nsv903843 15 29460239 29510571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586150 S 6533 1 0 "" IS37646 esv27055 15 29511433 29513193 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20404 S 451 0 1 "" NA19190 nsv469633 15 29518295 29691905 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649559 M 265 0 10 Samples from several populations that are part of the HapMap project. OTUD7A nsv903844 15 29523383 29569280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510090 S 6533 0 1 OTUD7A SP54956 nsv9233 15 29536978 29540291 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20542 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv903845 15 29538956 29726293 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583849 S 6533 1 0 OTUD7A IS36681 nsv9234 15 29545164 29553171 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25149 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 esv987804 15 29546809 29547463 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586635 S 3 1 0 "" HuRef essv12200 15 29553592 29932359 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. OTUD7A NA19101 dgv723e1 15 29553592 30773871 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25119,esv562 M 271 0 0 ARHGAP11A,CHRNA7,FAM7A1,FAM7A2,LOC100288615,OTUD7A,SCG5 NA10856 dgv432n67 15 29560519 29566857 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827282,nsv827281 M 31 2 0 OTUD7A NA18526,NA18972 esv29485 15 29562745 29563825 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11895 S 451 0 1 OTUD7A NA07045 nsv817679 15 29574400 29582491 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417295 S 112 0 1 OTUD7A NA18608 esv2565352 15 29589748 29591501 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309842 S 1 0 1 OTUD7A NA18507 esv2184065 15 29589910 29590387 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823458 S 1 0 1 OTUD7A NA18507 esv1513730 15 29590585 29590685 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882109 S 2 0 1 OTUD7A HuRef esv1355532 15 29590909 29591112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791095 S 2 0 1 OTUD7A HuRef dgv11e196 15 29596170 30162313 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422455,esv2422205,esv2422351,esv2422269 M 181 4 0 CHRNA7,OTUD7A ND00727,ND01702,ND03587,ND04946 dgv2309n71 15 29642139 30321329 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903861,nsv903869,nsv903851,nsv903853,nsv903846,nsv903848,nsv903849,nsv903858 M 6533 9 0 CHRNA7,OTUD7A IS38002,IS38219,MS16228,MS16555,MS16693,MS18307,SP52025,SP56094,SP57165 nsv9235 15 29653452 29659400 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23344 S 31 1 0 Samples from several populations that are part of the HapMap project. OTUD7A NA11830 nsv469569 15 29673292 29761692 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649682 M 265 0 3 Samples from several populations that are part of the HapMap project. OTUD7A dgv109e55 15 29684304 30298847 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751531,esv34816,esv34762,esv35123,esv2751530,esv2751532 M 771 6 0 CHRNA7,OTUD7A BEC_394,BEC_491,NA10856,NA11830,NA12813,SPC_88 esv28045 15 29695733 29806849 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15653,esv14728 M 451 1 1 OTUD7A NA12287,NA19257 nsv9237 15 29703681 30233172 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23402,nssv25204 M 31 1 1 Samples from several populations that are part of the HapMap project. CHRNA7,OTUD7A NA11830,NA18972 nsv903847 15 29715390 29891656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507688 S 6533 1 0 OTUD7A SP54627 essv3058 15 29725770 29932359 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. OTUD7A NA18981 dgv724e1 15 29725770 30375195 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24224,essv21211,essv23734,essv19919,essv19074 M 271 0 0 CHRNA7,OTUD7A NA10856,NA11830,NA12813 nsv428302 15 29725770 30773871 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452672,nssv452666,nssv452676,nssv452681,nssv452679,nssv452674,nssv452678,nssv452677,nssv452670,nssv452668,nssv452673,nssv452667,nssv452669,nssv452680,nssv452671 M 62 1 12 ARHGAP11A,CHRNA7,FAM7A1,FAM7A2,LOC100288615,OTUD7A,SCG5 HGDP00450,HGDP00467,HGDP00471,HGDP00474,HGDP00478,HGDP01089,NA18498,NA18916,NA19096,NA19113,NA19181,NA19257 nsv832953 15 29764064 29887441 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451830,nssv1451838,nssv1451829,nssv1451828,nssv1451837,nssv1451834,nssv1451833,nssv1451835,nssv1451839,nssv1451832,nssv1451826,nssv1451836,nssv1451831,nssv1451827 M 95 14 0 "" esv33337 15 29769358 32654590 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101559,essv101473,essv98756,essv98892,essv98684,essv97480,essv97540,essv101202,essv101237,essv93955,essv93844,essv100742,essv100797,essv100904,essv96758,essv100947,essv101027,essv95223,essv95051,essv98294,essv94747,essv94808,essv94073,essv94002,essv101419,essv101396,essv94348,essv97065,essv97903,essv97863,essv95582,essv95479,essv95559,essv93142,essv93124,essv95301,essv97374,essv97420,essv101678,essv101673,essv95822,essv94546,essv94509,essv99004,essv99118,essv92858,essv92956,essv92966,essv92742,essv92820,essv93690,essv93759,essv96106,essv96109,essv96647,essv96636,essv97122,essv98552,essv98551,essv100033,essv99800,essv96008,essv93460,essv93555,essv93404,essv93263,essv93245,essv99674,essv99634,essv94903,essv95005,essv92659,essv92532,essv97984,essv98007,essv96531,essv96532,essv96422,essv99154,essv99258,essv97686,essv97712,essv100212,essv100236,essv100555,essv100451,essv100380,essv100311,essv99533,essv99462,essv99406,essv98475,essv96280,essv94284,essv94228 M 51 44 42 ARHGAP11A,AVEN,C15orf24,C15orf29,C15orf55,CHRM5,CHRNA7,FAM7A1,FAM7A2,FMN1,GOLGA8A,GOLGA8B,GREM1,LOC100288615,LPCAT4,MIR1233-1,MIR1233-2,NOP10,PGBD4,RYR3,SCG5,SLC12A6,TMEM85 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 dgv2310n71 15 29776287 30255140 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903867,nsv903856,nsv903868,nsv903862,nsv903871,nsv903876,nsv903857,nsv903859,nsv903874,nsv903850,nsv903855,nsv903863,nsv903854 M 6533 22 0 CHRNA7 IS34565,MS11298,MS11331,MS14897,MS19489,MS22448,MS22600,MS23889,MS24812,MS25429,MS25633,SP50850,SP51380,SP52341,SP54148,SP56138,SP56789,SP56849,SP57226,SP58091,SP80947,SP81068 dgv2311n71 15 29792536 30072148 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903866,nsv903864,nsv903865,nsv903872,nsv903852 M 6533 7 0 "" IS32282,IS33239,IS34515,IS36681,MS21700,MS24886,SP53144 nsv442367 15 29798781 30027160 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv305n27 15 29807211 30029658 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456749,nsv456759 M 1557 2 0 "" HGDP01215,HGDP01412 dgv306n27 15 29807211 30231488 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456758,nsv456754,nsv456752,nsv456760,nsv456753,nsv456750,nsv456757,nsv456756,nsv456755 M 1557 9 0 CHRNA7 1780862263_A,HGDP00148,HGDP00474,HGDP00564,HGDP00594,HGDP00976,NINDS_182,NINDS_31,NINDS_35 nsv471234 15 29807358 30302218 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545631,nssv545630,nssv545638,nssv545636,nssv545634,nssv545633,nssv545640,nssv545639,nssv545637,nssv545635 M 443 9 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHRNA7 HGDP00474,HGDP00562,HGDP00564,HGDP00568,HGDP00570,HGDP00575,HGDP00599,HGDP01215,HGDP01412 nsv817680 15 29807358 30302218 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416099 S 112 1 0 CHRNA7 NA12813 nsv517740 15 29807358 30746003 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679077,nssv677653,nssv665202,nssv677338,nssv656303,nssv674472,nssv658875,nssv693568,nssv686761,nssv685202,nssv678667,nssv672893,nssv656139,nssv663642,nssv691286,nssv661198,nssv651773,nssv681993,nssv683741,nssv666151,nssv688927,nssv678615,nssv683002,nssv675387,nssv690151,nssv666733,nssv657860,nssv693058,nssv672619,nssv684145,nssv664195,nssv681301,nssv683164,nssv651687,nssv659496,nssv687104,nssv672210,nssv666339,nssv656329,nssv683725,nssv654640,nssv663609,nssv653636,nssv657477,nssv682981,nssv689995,nssv676005,nssv701977,nssv673892,nssv658248,nssv677149,nssv692870,nssv657365,nssv654443,nssv677834,nssv681503,nssv689284,nssv691902,nssv683464,nssv652859,nssv664215,nssv692989,nssv687324,nssv654357,nssv671706,nssv662013,nssv683642,nssv690178,nssv652799,nssv673178,nssv655210,nssv659850,nssv665287,nssv656700,nssv671913,nssv653053,nssv652380,nssv677765,nssv673251,nssv689536,nssv657438,nssv670310,nssv666096,nssv685293,nssv686102,nssv677190,nssv657987,nssv652996,nssv668722,nssv685160,nssv663575,nssv674304,nssv676174,nssv662489,nssv665493,nssv689664,nssv661039,nssv681056,nssv677019,nssv671087,nssv680080,nssv662882,nssv688260,nssv674828,nssv700373 M 2026 55 50 ARHGAP11A,CHRNA7,FAM7A1,FAM7A2,LOC100288615,SCG5 nsv903860 15 29812822 30238780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542372 S 6533 0 1 CHRNA7 MS15768 nsv903870 15 29820120 29891656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515288 S 6533 1 0 "" SP56144 dgv29n68 15 29837322 30053627 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv832955,nsv832954 M 95 2 0 "" nsv469580 15 29841774 30041608 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649694 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv903873 15 29841958 29997162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521816 S 6533 1 0 "" SP52593 nsv821680 15 29868048 30180651 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421309 S 31 1 0 CHRNA7 nsv903875 15 29875174 30071854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545627 S 6533 1 0 "" MS16852 nsv903877 15 29921299 30183749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526871 S 6533 1 0 CHRNA7 SP57945 dgv2312n71 15 29921299 30298847 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903883,nsv903888,nsv903889,nsv903882,nsv903879,nsv903878,nsv903884 M 6533 7 0 CHRNA7 MS16060,MS17067,SP53933,SP54367,SP55013,SP56144,SP56818 nsv1480 15 29933849 29954281 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5546 S 9 1 0 "" NA19129 dgv2313n71 15 29935438 30058418 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903885,nsv903881,nsv903886,nsv903880 M 6533 4 0 "" IS37646,MS12667,SP54627,SP55662 esv22183 15 29948918 29950560 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13650 S 451 0 1 "" NA07045 nsv511554 15 29949815 29963596 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626179 S 1 1 0 "" 1 nsv903887 15 29953278 30096476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507385 S 6533 1 0 "" SP54583 dgv725e1 15 29981051 30184543 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15892,essv4247,essv11678,essv17785,essv12449 M 271 0 0 CHRNA7 NA10831,NA18603,NA19154,NA19207,NA19223 dgv307n27 15 29993724 30016646 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456769,nsv456768,nsv456771,nsv456770,nsv456767 M 1557 5 0 "" HGDP00611,HGDP01247,HGDP01318,HGDP01319,HGDP01320 nsv469870 15 30001738 30191136 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649891 M 265 2 0 Samples from several populations that are part of the HapMap project. CHRNA7 nsv471680 15 30001739 30191136 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551114,nssv551113,nssv551112,nssv551111 M 48 3 1 CHRNA7 JK1688,NA10494,NA10495,NA15729 dgv2314n71 15 30058418 30177362 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903898,nsv903890 M 6533 2 0 CHRNA7 SP52593,SP53144 dgv2315n71 15 30072156 30255140 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903897,nsv903899,nsv903900,nsv903893,nsv903891,nsv903892,nsv903895,nsv903894 M 6533 9 0 CHRNA7 IS32282,IS34515,IS36681,MS12667,MS16852,MS21700,MS24886,SP54627,SP55662 esv990942 15 30078196 30078489 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565108 S 3 0 1 "" HuRef esv3987 15 30078398 30078972 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26428 S 1 0 1 Single Asian sample YH "" YH esv1365146 15 30078527 30078835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137604 S 2 0 1 "" HuRef esv7590 15 30078553 30078819 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30031 S 1 0 1 "" SJK nsv832956 15 30078908 30255818 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451842 S 95 1 0 CHRNA7 dgv2316n71 15 30083979 30321329 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903901,nsv903896 M 6533 2 0 CHRNA7 IS33239,IS37646 nsv903902 15 30136799 30232287 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508814 S 6533 1 0 CHRNA7 SP54583 nsv819078 15 30137037 30138227 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419191 S 2 0 1 CHRNA7 AK1 dgv308n27 15 30160985 30231488 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456777,nsv456776,nsv456778,nsv456772 M 1557 4 0 CHRNA7 HGDP00562,HGDP00568,HGDP00575,HGDP00599 nsv471681 15 30179961 30412040 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550240,nssv549628,nssv549630,nssv550244,nssv549631,nssv549629,nssv550239,nssv550241,nssv549627,nssv550245,nssv550242,nssv550243 M 48 2 7 CHRNA7 JK1058,JK1061,NA10495,NA10967,NA10969,NA11523,NA15728,NA15733,P86GA nsv903903 15 30189338 30297802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555038 S 6533 0 1 CHRNA7 MS21163 dgv726e1 15 30191187 30412040 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23218,essv5225,essv5102 M 271 0 0 CHRNA7 NA12156,NA18577,NA18611 dgv727e1 15 30191187 30609091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1341,essv2583,essv21316,essv19199,essv10437,essv8436,essv7761,essv24746,essv19612,essv22414,essv12331,essv7426,essv14429,essv13809,essv17651,essv5047,essv19091,essv14977,essv6973,essv1948 M 271 0 0 CHRNA7,FAM7A1,FAM7A2,LOC100288615 NA07055,NA10860,NA10861,NA11881,NA12155,NA12865,NA12878,NA18515,NA18516,NA18542,NA18576,NA18582,NA18623,NA18870,NA18959,NA18990,NA19007,NA19138,NA19153,NA19201 dgv728e1 15 30191187 30773871 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv808,essv15869,essv24582,essv9474,essv19657,essv16643,essv22063,essv13139,essv10825,essv13684,essv13595,essv15753,essv14200,essv10783,essv4256,essv11888,essv11635,essv14547,essv20962,essv13060,essv10252,essv19930,essv20424,essv9065,essv8209,essv21143,essv18345,essv16805,essv23798,essv22382,essv9973,essv2186,essv12463,essv5729,essv17817 M 271 0 0 ARHGAP11A,CHRNA7,FAM7A1,FAM7A2,LOC100288615,SCG5 NA10830,NA10831,NA11992,NA11994,NA12154,NA12264,NA12763,NA12801,NA12813,NA12815,NA12875,NA18523,NA18593,NA18603,NA18852,NA18871,NA18872,NA18960,NA18973,NA19099,NA19102,NA19116,NA19119,NA19127,NA19131,NA19132,NA19140,NA19142,NA19152,NA19154,NA19202,NA19207,NA19208,NA19221,NA19223 nsv469726 15 30213186 30412040 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649747 M 265 0 20 Samples from several populations that are part of the HapMap project. CHRNA7 dgv2317n71 15 30228925 30297802 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903906,nsv903918,nsv903904,nsv903919 M 6533 0 5 CHRNA7 IS37428,IS41898,SP52439,SP52448,SP56304 dgv2318n71 15 30228925 30709527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903916,nsv903905,nsv903914,nsv903917,nsv903913,nsv903915 M 6533 0 7 ARHGAP11A,CHRNA7,FAM7A1,FAM7A2,LOC100288615 MS12780,MS13783,MS14368,MS20747,MS21958,MS22093,MS24444 dgv2319n71 15 30231488 30297802 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903907,nsv903920 M 6533 5 38 CHRNA7 IS31800,IS31821,IS31825,IS33232,IS34257,IS35533,IS37664,IS37738,IS38241,IS38251,IS38291,IS38419,IS38596,IS39078,IS39832,IS40402,IS40416,IS40491,IS40538,IS40928,IS41780,IS41840,IS41926,MS11105,MS11165,MS12743,MS14264,MS14809,MS15145,MS15168,MS19277,MS20843,MS21059,MS21841,MS22179,MS22765,MS23133,SP52740,SP52863,SP53407,SP55362,SP57665,SP81533 dgv2320n71 15 30231488 30321329 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903908,nsv903922 M 6533 3 5 CHRNA7 IS36728,IS39205,IS40703,MS12387,MS12667,MS15923,MS21863,SP81386 dgv2321n71 15 30231488 30472625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903909,nsv903910,nsv903912,nsv903911 M 6533 0 8 CHRNA7 IS30645,MS10999,MS12917,MS15752,MS18837,MS19502,MS24701,MS25756 esv25982 15 30231548 30468651 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12948,esv14192,esv11589 M 451 2 7 CHRNA7 NA07045,NA11894,NA12156,NA12749,NA12828,NA18909,NA19099,NA19240,NA19257 nsv9238 15 30233172 30689372 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25863,nssv27378,nssv27387,nssv27426,nssv23458,nssv21886,nssv27435,nssv23487,nssv25579,nssv23430,nssv25272,nssv25884,nssv23515,nssv25556,nssv22376,nssv23431,nssv27369,nssv27444,nssv25229,nssv24484,nssv23459,nssv23514,nssv23486,nssv22316,nssv22346,nssv19969 M 31 4 8 Samples from several populations that are part of the HapMap project. CHRNA7,FAM7A1,FAM7A2,LOC100288615 NA11830,NA12155,NA18502,NA18517,NA18552,NA18572,NA18972,NA19007,NA19132,NA19221,NA19240 nsv903921 15 30238780 30298847 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549302,nssv1545394 M 6533 2 0 CHRNA7 MS16772,MS18176 dgv2322n71 15 30238780 30362842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903927,nsv903923,nsv903924 M 6533 0 6 CHRNA7 IS35190,MS19226,MS20237,MS20710,SP52019,SP53415 nsv903925 15 30255140 30321329 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580469 S 6533 1 0 "" IS35329 nsv821681 15 30257325 30589635 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421310 S 31 1 0 FAM7A1,FAM7A2 dgv2323n71 15 30258303 30321329 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903926,nsv903931,nsv903929,nsv903935 M 6533 0 6 "" MS21020,SP50870,SP51040,SP53503,SP54622,SP56143 dgv2324n71 15 30262921 30321329 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903930,nsv903928 M 6533 9 11 "" IS34304,IS35909,IS36570,IS37771,IS38242,IS38356,IS39886,IS41852,MS11497,MS12644,MS12932,MS13254,MS14591,MS17527,MS19143,MS19437,MS25519,MS25889,SP52593,SP56783 nsv903932 15 30272117 30348312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548940 S 6533 0 1 "" MS17949 dgv2325n71 15 30275116 30331971 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903936,nsv903933 M 6533 2 0 "" SP52051,SP52724 dgv2326n71 15 30276396 30321329 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903940,nsv903937,nsv903934,nsv903941,nsv903945,nsv903946,nsv903938 M 6533 38 84 "" SP50038,SP50081,SP50082,SP50102,SP50103,SP50110,SP50156,SP50176,SP50535,SP50559,SP50585,SP50593,SP50649,SP50802,SP50832,SP50872,SP50915,SP50940,SP50942,SP50989,SP51019,SP51056,SP51352,SP51411,SP51506,SP52053,SP52081,SP52122,SP52130,SP52131,SP52165,SP52270,SP52432,SP52529,SP52688,SP52732,SP52762,SP52772,SP52946,SP52951,SP53041,SP53320,SP53330,SP53458,SP53473,SP53734,SP53827,SP53969,SP54043,SP54367,SP54389,SP54393,SP54399,SP54402,SP54448,SP54480,SP54517,SP54559,SP54577,SP54583,SP54603,SP54636,SP54726,SP54935,SP55223,SP55312,SP55424,SP55569,SP55596,SP55642,SP55652,SP55660,SP55748,SP55749,SP55829,SP55868,SP55878,SP55915,SP55937,SP55946,SP55971,SP56042,SP56085,SP56138,SP56152,SP56196,SP56231,SP56248,SP56289,SP56307,SP56396,SP56457,SP56467,SP56766,SP56834,SP56848,SP56849,SP56861,SP56886,SP56959,SP57010,SP57020,SP57045,SP57173,SP57190,SP57199,SP57201,SP57205,SP57226,SP57278,SP57306,SP57347,SP57469,SP57481,SP57545,SP57551,SP57553,SP57671,SP57874,SP58299,SP58557,SP81074 nsv903939 15 30282790 30344050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535837 S 6533 1 0 "" MS12506 dgv2327n71 15 30284617 30344050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903942,nsv903943 M 6533 0 2 "" MS12466,MS13774 nsv903944 15 30284617 30472625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522825 S 6533 1 0 "" SP53447 nsv442368 15 30291556 30299512 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421647 15 30291556 30303265 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5023129,essv5082862,essv5009394,essv5040299,essv5035197,essv5139496,essv5067810,essv5056510,essv5096443,essv5125975,essv5157776,essv5017120,essv5037104,essv5016142,essv5041222,essv5070673,essv5063254,essv5013534,essv5119686,essv5126876,essv5151270,essv5081604,essv5043739,essv5107375,essv5141372,essv5066433,essv5066448,essv5126213,essv5096189,essv5138077,essv5068047,essv5057729,essv5067332,essv5017648,essv5113266,essv5050005,essv5048940,essv5156974,essv5091925,essv5090207,essv5002740,essv5071631,essv5033682,essv5119687,essv5108512,essv5064956,essv5049431,essv5021377,essv5094426,essv5064412,essv5143033,essv5147527,essv5110196,essv5053451,essv5041297,essv5109028,essv5024595,essv5060985,essv5071220,essv5049000,essv5125177,essv5050873,essv5005456,essv5025891,essv5099928,essv5039538,essv5156627,essv5155123,essv5092626,essv5131076,essv5061123,essv5135817,essv5038337,essv5073778,essv5154873,essv5134819,essv5031600,essv5021922,essv5049541,essv5018751,essv5098459,essv5151643,essv5006800,essv5046313,essv5049246,essv5136463,essv5139719,essv5118056,essv5075210,essv5154731,essv5097715,essv5016884,essv5066958,essv5102654,essv5133244,essv5004659,essv5034572,essv5040641,essv5052884,essv5009033,essv5104605,essv5078064,essv5043624,essv5082718,essv5090374,essv5045054,essv5045845,essv5114513,essv5037305,essv5100416,essv5097425,essv5057141,essv5057481,essv5115723,essv5088102,essv5045072,essv5145586,essv5051655,essv5034388,essv5016628,essv5063788,essv5049835,essv5084677,essv5083074,essv5046471,essv5075775,essv5094867,essv5101878,essv5097930,essv5083841,essv5149716,essv5011571,essv5048640,essv5058220,essv5111986,essv5033869,essv5078125,essv5106873,essv5132390,essv5007949,essv5127202,essv5157690,essv5116503,essv5128708 M 1184 99 45 "" NA06993,NA10856,NA11830,NA11891,NA12813,NA12818,NA12829,NA17977,NA17988,NA17989,NA17993,NA18114,NA18125,NA18131,NA18136,NA18139,NA18147,NA18157,NA18500,NA18501,NA18543,NA18546,NA18552,NA18566,NA18576,NA18579,NA18618,NA18623,NA18633,NA18647,NA18682,NA18694,NA18910,NA18957,NA18959,NA18961,NA18962,NA18964,NA18969,NA18972,NA18981,NA18999,NA19036,NA19038,NA19044,NA19046,NA19054,NA19057,NA19058,NA19066,NA19072,NA19075,NA19077,NA19098,NA19119,NA19120,NA19143,NA19207,NA19221,NA19223,NA19239,NA19240,NA19257,NA19307,NA19313,NA19332,NA19359,NA19372,NA19375,NA19376,NA19379,NA19381,NA19382,NA19385,NA19394,NA19403,NA19435,NA19455,NA19463,NA19625,NA19759,NA19760,NA19776,NA19782,NA19784,NA19900,NA19902,NA19904,NA19914,NA19919,NA20276,NA20284,NA20346,NA20347,NA20522,NA20866,NA21295,NA21297,NA21300,NA21303,NA21312,NA21313,NA21314,NA21316,NA21318,NA21320,NA21336,NA21339,NA21352,NA21353,NA21355,NA21357,NA21362,NA21363,NA21367,NA21400,NA21401,NA21414,NA21417,NA21420,NA21423,NA21435,NA21438,NA21439,NA21441,NA21442,NA21448,NA21457,NA21473,NA21489,NA21493,NA21520,NA21583,NA21611,NA21613,NA21614,NA21617,NA21686,NA21693,NA21717,NA21719,NA21722,NA21776,NA21825 nsv827283 15 30296205 30302643 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423759,nssv1422949,nssv1436176 M 31 1 2 "" NA18552,NA18566,NA18999 nsv827284 15 30296205 30442548 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441501 S 31 1 0 "" NA18969 nsv827285 15 30296418 30302643 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432414 S 31 0 1 "" AK20 nsv827286 15 30296418 30327099 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427067 S 31 0 1 "" AK6 nsv514776 15 30296430 30298772 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628235 S 1414 0 0 "" nsv456779 15 30297802 30300525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534063 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00778 dgv309n27 15 30297802 30302218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456781,nsv456780 M 1557 0 2 "" HGDP00467,HGDP00471 nsv817681 15 30297802 30302218 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417231,nssv1416875,nssv1416679,nssv1416678,nssv1417701,nssv1418213,nssv1417581,nssv1418170,nssv1416876,nssv1417644 M 112 8 2 "" NA06993,NA18576,NA18972,NA18992,NA18999,NA19119,NA19120,NA19143,NA19239,NA19240 nsv903947 15 30302218 30389965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590861,nssv1570102,nssv1581205,nssv1591862,nssv1596156 M 6533 0 5 "" IS31800,IS35533,IS38596,IS39078,IS40416 nsv903948 15 30302218 30407419 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540352,nssv1576815,nssv1597429,nssv1596492,nssv1545395 M 6533 1 4 "" IS34257,IS40538,IS40928,MS14809,MS16772 dgv2328n71 15 30302218 30439004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903950,nsv903963,nsv903949,nsv903951,nsv903960 M 6533 0 8 "" IS31821,IS31825,IS33232,IS37738,IS38419,MS21841,SP52439,SP53407 dgv2329n71 15 30302218 30472625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903952,nsv903961,nsv903964 M 6533 0 9 "" IS31837,IS38241,IS40491,MS11165,MS15145,SP55362,SP56304,SP57665,SP81533 dgv2330n71 15 30302218 30524219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903954,nsv903953 M 6533 0 2 FAM7A1,FAM7A2 IS41898,SP52448 nsv903955 15 30302218 30567655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561332 S 6533 1 0 FAM7A1,FAM7A2 MS24935 dgv2331n71 15 30302218 30657867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903958,nsv903956,nsv903962,nsv903957 M 6533 0 5 FAM7A1,FAM7A2,LOC100288615 IS40402,MS12743,MS14264,MS22765,SP57208 nsv903959 15 30302218 30713368 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592695 S 6533 1 0 ARHGAP11A,FAM7A1,FAM7A2,LOC100288615 IS39243 nsv832957 15 30316092 30502594 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451845,nssv1451844,nssv1451843,nssv1451848,nssv1451846,nssv1451847,nssv1451853,nssv1451849,nssv1451850,nssv1451851,nssv1451852,nssv1451854 M 95 2 10 FAM7A1,FAM7A2 nsv827288 15 30326699 30442548 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439285 S 31 0 1 "" NA18973 nsv433292 15 30344050 30455199 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463173 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv433433 15 30407419 30676740 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463314 S 9 1 0 Samples from several populations that are part of the HapMap project. FAM7A1,FAM7A2,LOC100288615 NA12156 essv16252 15 30407459 30609091 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM7A1,FAM7A2,LOC100288615 NA19161 dgv729e1 15 30407459 30773871 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21221,essv11125,essv24294 M 271 0 0 ARHGAP11A,FAM7A1,FAM7A2,LOC100288615,SCG5 NA10856,NA11830,NA19211 nsv509564 15 30417983 30463156 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621008 S 4 1 0 "" NA15510 dgv30n68 15 30437684 30628015 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH nsv832959,nsv832960 M 95 5 5 FAM7A1,FAM7A2,LOC100288615 esv1000078 15 30462331 30546560 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586213 S 3 1 0 FAM7A1,FAM7A2 HuRef nsv903965 15 30475958 30676740 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592066 S 6533 1 0 FAM7A1,FAM7A2,LOC100288615 IS39205 dgv2332n71 15 30478989 30567655 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903970,nsv903966 M 6533 2 0 FAM7A1,FAM7A2 IS40222,SP53368 dgv2333n71 15 30478989 30638972 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903969,nsv903968,nsv903967 M 6533 0 6 FAM7A1,FAM7A2,LOC100288615 IS33232,MS15145,MS24701,MS25756,SP55671,SP56818 nsv509565 15 30483895 30483895 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618110 S 4 1 0 "" CHM esv22947 15 30484706 30532114 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21086 S 451 2 3 FAM7A1,FAM7A2 NA07045,NA12239,NA12287,NA18523,NA19129 dgv2334n71 15 30524219 30638972 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903971,nsv903974,nsv903972 M 6533 0 4 LOC100288615 IS40491,MS12667,MS19502,SP55362 dgv2335n71 15 30532103 30682597 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903973,nsv903976 M 6533 0 2 LOC100288615 MS12917,MS15752 nsv903975 15 30544756 30682597 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565699 S 6533 1 0 LOC100288615 IS30506 esv2422296 15 30586230 31008507 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161488 S 181 1 0 ARHGAP11A,FMN1,GREM1,LOC100288615,SCG5 ND05461 nsv469587 15 30609232 30773871 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649701 M 265 0 5 Samples from several populations that are part of the HapMap project. ARHGAP11A,LOC100288615,SCG5 esv21965 15 30687600 30712376 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17633 S 451 1 1 ARHGAP11A NA12287,NA12414 nsv9239 15 30698639 30712694 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23542 S 31 0 1 Samples from several populations that are part of the HapMap project. ARHGAP11A NA11830 nsv456785 15 30713368 31140281 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534066 S 1557 1 0 ARHGAP11A,FMN1,GREM1,SCG5 NINDS_129 nsv1481 15 30715432 30721888 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7154 S 9 0 1 ARHGAP11A,SCG5 NA12156 esv271798 15 30741948 30742147 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503366,essv2497114,essv2500140,essv2508210,essv2508450,essv2508597,essv2496047,essv2512912,essv2507544,essv2503096,essv2503451,essv2512388,essv2495169 M 157 13 0 Samples from several populations that are part of the HapMap project. SCG5 NA18542,NA18552,NA18573,NA18579,NA18582,NA18592,NA18603,NA18609,NA18638,NA18943,NA18947,NA18949,NA18964 nsv832961 15 30808469 30922280 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451865 S 95 1 0 FMN1,GREM1 nsv903977 15 30828074 30904594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529194 S 6533 1 0 FMN1 SP81469 esv1210728 15 30857109 30857109 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949881 S 2 1 0 FMN1 HuRef esv1647338 15 30857372 30857429 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115927 S 2 0 1 FMN1 HuRef esv1533512 15 30857498 30857635 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633770 S 2 0 1 FMN1 HuRef nsv1482 15 30870458 30900936 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7155 S 9 0 1 FMN1 NA12156 nsv832962 15 30898809 31027028 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451866 S 95 0 1 FMN1 esv268415 15 30900567 30900904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518679,essv2516477,essv2515856 M 157 3 0 Samples from several populations that are part of the HapMap project. FMN1 NA12045,NA12814,NA12873 dgv2336n71 15 30931494 31095933 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903978,nsv903980 M 6533 2 0 FMN1 SP50527,SP81469 dgv2337n71 15 30931494 31337548 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903979,nsv903981 M 6533 2 0 FMN1 MS21117,SP57865 esv1089006 15 31029447 31029573 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197050 S 2 0 1 FMN1 HuRef nsv903982 15 31070136 31403442 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529196 S 6533 1 0 FMN1,RYR3 SP81469 nsv521903 15 31077241 31088800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694674 S 2026 0 1 FMN1 nsv524708 15 31144554 31152626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700691 S 2026 0 1 FMN1 nsv903983 15 31175322 31337548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499604 S 6533 1 0 "" SP50527 nsv832963 15 31302090 31499734 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451867 S 95 1 0 RYR3 nsv518393 15 31351774 31364175 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695823 S 2026 1 0 "" nsv832964 15 31396063 31571310 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451869,nssv1451870,nssv1451871,nssv1451872,nssv1451873,nssv1451868 M 95 0 6 RYR3 esv1126949 15 31415917 31415977 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090516 S 2 0 1 RYR3 HuRef esv34041 15 31508018 31658779 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 RYR3 esv34037 15 31519908 31836375 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 RYR3 esv271985 15 31529340 31529425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517149 S 157 1 0 Samples from several populations that are part of the HapMap project. RYR3 hapmap_pooled_sample_set esv28846 15 31651000 31654230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13885,esv14938 M 451 0 4 RYR3 NA11894,NA11995,NA12044,NA15510 nsv523361 15 31675059 31677834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699110 S 2026 0 1 RYR3 nsv456788 15 31687997 31697114 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534068 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RYR3 HGDP00768 nsv1483 15 31692256 31703546 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10044 S 9 0 1 RYR3 NA18956 nsv827289 15 31693688 31698091 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423760 S 31 0 1 RYR3 NA18999 nsv442369 15 31693757 31696262 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RYR3 nsv498843 15 31693824 31698009 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585704 S 9 0 1 RYR3 nsv514777 15 31693892 31697836 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628237 S 1414 0 1 RYR3 nsv520848 15 31694920 31697114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681525,nssv676339 M 2026 0 2 RYR3 nsv817682 15 31694920 31697114 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417542,nssv1417685 M 112 0 2 RYR3 NA18971,NA18999 nsv524568 15 31780775 31784549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700523 S 2026 0 1 RYR3 nsv516051 15 31785680 31785766 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665893,nssv676929 M 2026 2 0 RYR3 nsv509566 15 31807273 31844609 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623672 S 4 1 0 RYR3 NA18994 nsv1484 15 31808357 31825421 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4144,nssv5547 M 9 2 0 RYR3 NA12878,NA19129 esv272798 15 31819113 31825191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582228,essv2582341,essv2583044 M 7 3 0 Samples from several populations that are part of the HapMap project. RYR3 NA12878,NA12891,NA12892 esv271085 15 31819113 31825204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571697,essv2542330,essv2543953,essv2558401,essv2578054,essv2564108,essv2554942,essv2562121,essv2537672,essv2528357,essv2546657,essv2557401,essv2557205,essv2552653,essv2532034,essv2569387,essv2561603,essv2552971,essv2541083,essv2542932,essv2534776,essv2522143,essv2532818,essv2567552,essv2570184,essv2542095,essv2551090,essv2556421,essv2527908,essv2539486,essv2533949,essv2573230,essv2522463,essv2571856,essv2529690,essv2575615,essv2560593,essv2524286,essv2574552,essv2545200,essv2560342,essv2549948,essv2551394,essv2538056,essv2547779,essv2557927 M 157 46 0 Samples from several populations that are part of the HapMap project. RYR3 NA07000,NA07347,NA10851,NA11840,NA11919,NA11992,NA12750,NA12761,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18505,NA18508,NA18523,NA18542,NA18545,NA18550,NA18561,NA18571,NA18576,NA18582,NA18593,NA18856,NA18858,NA18871,NA18907,NA18912,NA18916,NA18942,NA18960,NA18973,NA19093,NA19099,NA19116,NA19129,NA19138,NA19172,NA19190,NA19225,NA19257 nsv456789 15 31821713 32213910 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534069 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AVEN,C15orf24,CHRM5,PGBD4,RYR3 HGDP01215 nsv471235 15 31822821 32209243 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545641 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AVEN,C15orf24,CHRM5,PGBD4,RYR3 HGDP01215 nsv520023 15 31858174 31858597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697182 S 2026 0 1 RYR3 esv1483241 15 31873545 31873545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787261 S 2 1 0 RYR3 HuRef nsv903984 15 31961358 32026096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518743 S 6533 0 1 AVEN SP57973 nsv437798 15 31962628 31965008 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467679 S 60 0 1 Samples from several populations that are part of the HapMap project. AVEN NA19100 nsv507771 15 31971861 31977861 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620576,nssv617895,nssv619137,nssv623181 M 4 4 0 AVEN CHM,NA10860,NA15510,NA18994 esv5748 15 31972390 32032744 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28189 S 1 0 0 AVEN SJK esv2648750 15 31973932 31974573 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359451 S 1 1 0 AVEN NA18507 esv1207147 15 31974216 31974216 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646960 S 2 1 0 AVEN HuRef nsv513427 15 31974465 31974836 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625827 S 1 1 0 AVEN 1 nsv512390 15 31987106 31990027 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624979 S 1 0 1 AVEN 1 esv4730 15 31987704 31988063 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27171 S 1 0 1 Single Asian sample YH AVEN YH nsv94884 15 31987740 31987994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113462 M 24 AVEN esv24590 15 31987740 31989040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12433 S 451 0 1 AVEN NA12004 esv6930 15 31987741 31988005 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29371 S 1 0 1 AVEN SJK esv27001 15 32000889 32001750 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12467 S 451 1 0 AVEN NA18916 nsv456790 15 32051310 32069025 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534070 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AVEN,CHRM5 HGDP00328 dgv310n27 15 32063461 32065199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456792,nsv456791 M 1557 0 2 AVEN,CHRM5 HGDP00039,HGDP00281 nsv516347 15 32063461 32065199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657861,nssv689552,nssv654952,nssv658282,nssv689788,nssv667724 M 2026 0 6 AVEN,CHRM5 nsv903985 15 32066611 32157779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578854 S 6533 0 1 AVEN,CHRM5 IS34954 nsv903986 15 32181565 32209243 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506643 S 6533 1 0 PGBD4 SP54383 dgv730e1 15 32330313 32698469 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12650,essv297,essv22418,essv6699,essv2792,essv15807,essv19644,essv12482,essv3890,essv4548,essv569,essv20792,essv7371,essv868,essv5561,essv6986,essv4280,essv24266,essv4828,essv8243,essv5915,essv4468,essv4886,essv4187,essv7786,essv14157,essv5151,essv24824,essv10110,essv5392,essv23480,essv8420,essv24406,essv3788,essv12322,essv24936,essv5249,essv18066,essv10241,essv22441,essv24039,essv20315,essv4367,essv6915,essv19676,essv13755,essv21310,essv13046,essv3744,essv9600,essv5056,essv17661,essv24535,essv7705,essv22491,essv22084,essv7275,essv10572,essv21385,essv2587,essv5126,essv14987,essv18404,essv18333,essv16794,essv17724,essv5710,essv21543,essv5183,essv22338,essv24571,essv1602,essv22400,essv19176,essv3728,essv22850,essv13668,essv22757,essv16458,essv11107,essv21223,essv16948,essv6821,essv1918,essv23240,essv17621,essv10008,essv3552,essv10835,essv17239,essv17461,essv11791,essv3209,essv23792,essv3277 M 271 0 0 C15orf55,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,SLC12A6 NA06985,NA06994,NA07000,NA07019,NA07029,NA07034,NA10856,NA10859,NA10861,NA11830,NA11881,NA11882,NA11992,NA11994,NA12004,NA12043,NA12145,NA12146,NA12154,NA12155,NA12236,NA12249,NA12264,NA12707,NA12740,NA12753,NA12761,NA12763,NA12802,NA12865,NA12872,NA12873,NA12875,NA12878,NA18500,NA18503,NA18504,NA18516,NA18524,NA18526,NA18529,NA18540,NA18542,NA18550,NA18552,NA18561,NA18563,NA18564,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18611,NA18612,NA18623,NA18624,NA18633,NA18852,NA18870,NA18871,NA18872,NA18942,NA18943,NA18947,NA18959,NA18961,NA18965,NA18972,NA18974,NA18978,NA18987,NA18990,NA18994,NA18998,NA19000,NA19099,NA19116,NA19119,NA19130,NA19138,NA19139,NA19140,NA19141,NA19144,NA19152,NA19153,NA19207,NA19211,NA19223,NA19240 dgv731e1 15 32330313 32775539 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10307,essv1901,essv8830,essv1505,essv20239,essv3070,essv10991,essv23681,essv7576,essv19229,essv20116,essv11850,essv9424,essv1224,essv1774,essv7155,essv6372,essv22576,essv1379,essv3123,essv16546,essv22637,essv7117,essv7305,essv15597,essv12572,essv4711,essv16104,essv433,essv23198,essv12273,essv12795,essv8302,essv23000,essv2679,essv13625,essv14710,essv6591,essv4159,essv15119,essv11712,essv18615,essv9178,essv21791,essv24141,essv7869,essv1147,essv22920,essv10375,essv23420,essv16674,essv14414,essv24811,essv6182,essv14327,essv18852,essv23382,essv8777,essv6286,essv20901,essv6386,essv9355,essv8911,esv870,essv13933,essv4639,essv23048,essv10700,essv13465,essv19942,essv24998,essv13020,essv14489,essv23886,essv20409,essv21072,essv15357,essv18112,essv16279,essv23566,essv17103,essv21997,essv18253,essv9025,essv8139,essv18706,essv13147,essv17928,essv1457,essv23135,essv232,essv5995,essv2090,essv20573,essv18982,essv17791,essv21422,essv5479,essv783,essv13526,essv18171,essv21838,essv19538,essv15736,essv2236,essv10466,essv17498,essv22190,essv15509,essv3976,essv22110 M 271 0 0 C15orf55,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,SLC12A6 NA06991,NA06993,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10838,NA10839,NA10846,NA10847,NA10854,NA10857,NA10860,NA10863,NA11839,NA11993,NA11995,NA12003,NA12005,NA12044,NA12057,NA12144,NA12156,NA12234,NA12239,NA12717,NA12750,NA12751,NA12752,NA12760,NA12762,NA12801,NA12812,NA12813,NA12814,NA12864,NA12874,NA12891,NA18505,NA18506,NA18508,NA18515,NA18532,NA18537,NA18545,NA18547,NA18555,NA18558,NA18570,NA18571,NA18572,NA18594,NA18609,NA18621,NA18622,NA18632,NA18636,NA18853,NA18854,NA18855,NA18859,NA18862,NA18944,NA18948,NA18949,NA18952,NA18956,NA18964,NA18966,NA18967,NA18969,NA18970,NA18976,NA18980,NA18981,NA18995,NA18997,NA19007,NA19092,NA19098,NA19100,NA19101,NA19102,NA19103,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19142,NA19143,NA19154,NA19159,NA19160,NA19161,NA19172,NA19192,NA19194,NA19200,NA19201,NA19202,NA19206,NA19208,NA19210,NA19221,NA19222 nsv428303 15 32330313 32775539 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452702,nssv452695,nssv452711,nssv452712,nssv452691,nssv452693,nssv452701,nssv452710,nssv452685,nssv452684,nssv452696,nssv452706,nssv452690,nssv452708,nssv452688,nssv452700,nssv452689,nssv452699,nssv452713,nssv452692,nssv452694,nssv452683,nssv452705,nssv452707,nssv452697 M 62 25 0 C15orf55,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,SLC12A6 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19257 nsv471682 15 32347743 32669922 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550027,nssv550055,nssv550036,nssv550043,nssv550024,nssv550057,nssv550058,nssv550064,nssv550044,nssv550049,nssv550062,nssv550025,nssv550045,nssv550065,nssv550073,nssv550063,nssv550052,nssv550075,nssv550029,nssv550061,nssv550070,nssv550021,nssv550041,nssv550067,nssv550033,nssv550076,nssv550068,nssv550071,nssv550042,nssv550020,nssv550022,nssv550069,nssv550046,nssv550047,nssv550074,nssv550038,nssv550028,nssv550039,nssv550053,nssv550031,nssv550026,nssv550072,nssv550037,nssv550048,nssv550050,nssv550030,nssv550059,nssv550056,nssv550054,nssv550034,nssv550040,nssv550051,nssv550035,nssv550023,nssv550032,nssv550066,nssv550060 M 48 42 1 C15orf55,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2,NOP10,SLC12A6 JK1058,JK1061,JK1688,JK776,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15724,NA15726,NA15727,NA15728,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17052,NA17058,NA17059,P86GA nsv819906 15 32372723 32384852 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418627 S 2 0 1 SLC12A6 AK1 nsv469547 15 32381849 32545099 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649657 M 265 0 9 Samples from several populations that are part of the HapMap project. C15orf55,GOLGA8A,LPCAT4,MIR1233-1,MIR1233-2,NOP10,SLC12A6 dgv732e1 15 32385893 32602617 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11987,essv2455,essv9859,essv12127,essv11481,essv9552,essv8887,essv13 M 271 0 0 C15orf55,GOLGA8A,LPCAT4,MIR1233-1,MIR1233-2,NOP10,SLC12A6 NA18517,NA18856,NA18861,NA18945,NA18999,NA19144,NA19171,NA19173 nsv509567 15 32424524 32475548 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621009,nssv623673,nssv619667,nssv618111 M 4 4 0 C15orf55,GOLGA8A,LPCAT4,MIR1233-1,MIR1233-2 CHM,NA10860,NA15510,NA18994 esv1006076 15 32425798 32426664 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563453 S 3 1 0 C15orf55 HuRef nsv513428 15 32426050 32426205 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625828 S 1 1 0 C15orf55 1 nsv1485 15 32433499 32681032 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10930,nssv9512,nssv5548,nssv6625,nssv1246 M 9 0 5 C15orf55,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2 NA12156,NA15510,NA18507,NA19129,NA19240 nsv517751 15 32434860 32658588 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689970,nssv682800,nssv659069,nssv664592,nssv678455,nssv666623,nssv667121,nssv662760,nssv666176,nssv660683,nssv656433,nssv656999,nssv674337,nssv670510,nssv692595,nssv683415,nssv687208,nssv667856,nssv669683,nssv666097,nssv675164,nssv675541,nssv675813,nssv655710,nssv672482,nssv667225,nssv669884,nssv668489,nssv656777,nssv651671,nssv672402,nssv654401,nssv652551,nssv683670,nssv657236,nssv671745,nssv682922,nssv689576,nssv681550,nssv657439,nssv654860,nssv657612,nssv683431,nssv654496,nssv669594,nssv656542,nssv682673,nssv687045,nssv670400,nssv670436,nssv674872,nssv658011,nssv680509,nssv673650,nssv676822,nssv679946,nssv666048,nssv654444,nssv654518,nssv678068,nssv664500,nssv690038,nssv673336,nssv681622,nssv684240,nssv664393,nssv664123,nssv662246,nssv681779,nssv659497,nssv693530,nssv661758,nssv657340,nssv655132,nssv656051,nssv680767,nssv657581,nssv686067,nssv661121,nssv655030,nssv671772,nssv655788,nssv693899,nssv686948,nssv667315,nssv670955,nssv677726,nssv676033,nssv671639,nssv688420,nssv677125,nssv659527,nssv660407,nssv676129,nssv693851,nssv683414,nssv692243,nssv689215,nssv665410,nssv692055,nssv693330,nssv656091,nssv679377,nssv689751,nssv665040,nssv675898,nssv670345,nssv689396,nssv664279,nssv676547,nssv684523,nssv691750,nssv684907,nssv682345,nssv669374,nssv674049,nssv662378,nssv665822,nssv668383,nssv673124,nssv679895,nssv681713,nssv652713,nssv690996,nssv668423,nssv675165,nssv679754,nssv659982,nssv682624,nssv691846,nssv656161,nssv673476,nssv679947,nssv686776,nssv685368,nssv683887,nssv652894,nssv682517,nssv671415,nssv651701,nssv660225,nssv679376,nssv684970,nssv678471,nssv679694,nssv660955,nssv704736,nssv653242,nssv660270,nssv685454,nssv652306,nssv659895,nssv658045,nssv660865,nssv677020,nssv691647,nssv664756,nssv651719,nssv670332,nssv675306,nssv658378,nssv672674,nssv662640,nssv669927,nssv680287,nssv669797,nssv653918,nssv689417,nssv676376,nssv689452,nssv680188,nssv653138,nssv671516,nssv662465,nssv664333,nssv691648,nssv654255,nssv690912,nssv669426,nssv681735,nssv661186,nssv661675,nssv687864,nssv653518,nssv662811,nssv670533,nssv665747,nssv680481,nssv668786,nssv676107,nssv656330,nssv651718,nssv695534,nssv674717,nssv686551,nssv692536,nssv660122,nssv677191,nssv661790,nssv689729,nssv682225,nssv652860,nssv691735,nssv684313,nssv675211,nssv659937,nssv670268,nssv684800,nssv680142,nssv689537,nssv675055,nssv672072,nssv693227,nssv679537,nssv678188,nssv657440,nssv663211,nssv683586,nssv654621,nssv665666,nssv677572,nssv661225,nssv655523,nssv682553,nssv666417,nssv680740,nssv678004,nssv672131,nssv677385,nssv693404,nssv685264,nssv663185,nssv659869,nssv679971,nssv695637,nssv681462,nssv673560,nssv671931,nssv688653,nssv660716,nssv674305,nssv663356,nssv687840,nssv680814,nssv691293,nssv659241,nssv660486,nssv671488,nssv673201,nssv671187,nssv683465,nssv679152,nssv658538,nssv673064,nssv667063,nssv686380,nssv661103,nssv680535,nssv690831,nssv688994,nssv662679,nssv678239,nssv678214,nssv680426,nssv692292,nssv693492,nssv681481,nssv680210,nssv685265,nssv671345,nssv681373,nssv664428,nssv686530,nssv678507,nssv666943,nssv704410,nssv665864,nssv651698,nssv678567,nssv664976,nssv686992,nssv670387,nssv653857,nssv666451,nssv690937,nssv688549,nssv693032,nssv697874,nssv679355,nssv664380,nssv662556,nssv681331,nssv654239,nssv654803,nssv690814,nssv664196,nssv692798,nssv684883,nssv657839,nssv675632,nssv654568,nssv655096,nssv653502,nssv691623,nssv670136,nssv667496,nssv665262,nssv653674,nssv693283,nssv689356,nssv661407,nssv666340,nssv675959,nssv653673,nssv653662,nssv656471,nssv682982,nssv691723,nssv656394,nssv652927,nssv664352,nssv690395,nssv678940,nssv670450,nssv664122,nssv654002,nssv655301,nssv691374,nssv670162,nssv677360,nssv666818,nssv692489,nssv659589,nssv667745,nssv675761,nssv665581,nssv692511,nssv669402,nssv669745,nssv652094,nssv685727,nssv671018,nssv662041,nssv680343,nssv652142,nssv686219,nssv672371,nssv680109,nssv657094,nssv679354,nssv662732,nssv675488,nssv655113,nssv685483,nssv677983,nssv661833,nssv660243,nssv655770,nssv664729,nssv691713,nssv667062,nssv692293,nssv684921,nssv678506 M 2026 26 338 C15orf55,GOLGA8A,GOLGA8B,LPCAT4,MIR1233-1,MIR1233-2 nsv471236 15 32439975 32587886 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545666,nssv545697,nssv545650,nssv545644,nssv545656,nssv545651,nssv545662,nssv545653,nssv545659,nssv545642,nssv545682,nssv545702,nssv545658,nssv545689,nssv545684,nssv545694,nssv545673,nssv545668,nssv545703,nssv545680,nssv545677,nssv545669,nssv545646,nssv545660,nssv545645,nssv545693,nssv545648,nssv545678,nssv545674,nssv545695,nssv545657,nssv545704,nssv545701,nssv545686,nssv545681,nssv545700,nssv545692,nssv545663,nssv545679,nssv545667,nssv545661,nssv545696,nssv545652,nssv545690,nssv545683,nssv545664,nssv545655,nssv545649,nssv545675,nssv545670,nssv545688,nssv545705,nssv545685,nssv545691,nssv545647,nssv545671,nssv545672 M 443 0 57 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GOLGA8A,LPCAT4,MIR1233-1,MIR1233-2 HGDP00070,HGDP00281,HGDP00298,HGDP00315,HGDP00455,HGDP00491,HGDP00550,HGDP00554,HGDP00556,HGDP00579,HGDP00580,HGDP00585,HGDP00595,HGDP00600,HGDP00603,HGDP00613,HGDP00630,HGDP00635,HGDP00643,HGDP00679,HGDP00686,HGDP00693,HGDP00701,HGDP00854,HGDP00866,HGDP00877,HGDP00879,HGDP00881,HGDP00903,HGDP00906,HGDP00910,HGDP00931,HGDP00941,HGDP00953,HGDP00978,HGDP00987,HGDP00988,HGDP01029,HGDP01184,HGDP01200,HGDP01201,HGDP01202,HGDP01221,HGDP01253,HGDP01254,HGDP01257,HGDP01275,HGDP01283,HGDP01318,HGDP01381,HGDP01386,HGDP01403,HGDP01405,HGDP01408,HGDP01411,HGDP01412,HGDP01418 nsv820052 15 32443488 32443777 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419770 S 2 0 1 LPCAT4 AK1 nsv827290 15 32447266 32664650 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427068,nssv1431648,nssv1427853,nssv1438451,nssv1429707,nssv1425329 M 31 0 6 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 AK18,AK2,AK6,AK8,NA18951,NA18968 nsv903987 15 32447708 32563312 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575837,nssv1531457,nssv1556477,nssv1590271,nssv1587469,nssv1581953,nssv1588425 M 6533 4 3 GOLGA8A,MIR1233-1,MIR1233-2 IS33829,IS35770,IS38056,IS38193,IS38479,MS10445,MS22076 dgv2338n71 15 32447708 32569800 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv903988,nsv903994 M 6533 0 2 GOLGA8A,MIR1233-1,MIR1233-2 MS11171,MS13703 dgv2339n71 15 32447708 32631865 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv903989,nsv903990,nsv904001,nsv904011,nsv904010,nsv904023,nsv904025,nsv903992 M 6533 39 292 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS30067,IS30081,IS30085,IS30222,IS30243,IS30245,IS30292,IS30300,IS30301,IS30369,IS30466,IS30530,IS30610,IS30923,IS31137,IS31142,IS31211,IS31225,IS31285,IS31294,IS31401,IS31554,IS31617,IS31706,IS31722,IS31821,IS31825,IS31832,IS32015,IS32382,IS32651,IS32775,IS32805,IS32810,IS32858,IS32888,IS32918,IS33023,IS33243,IS33340,IS33487,IS33504,IS33529,IS33530,IS33596,IS33630,IS33771,IS33797,IS33857,IS33867,IS33970,IS34025,IS34340,IS34387,IS34395,IS34407,IS34409,IS34494,IS34684,IS34962,IS35018,IS35025,IS35225,IS35287,IS35471,IS35519,IS35566,IS35777,IS36046,IS36195,IS36298,IS36423,IS36438,IS36463,IS36559,IS36722,IS36777,IS36893,IS37103,IS37270,IS37435,IS37554,IS37691,IS37776,IS37848,IS37866,IS37888,IS37969,IS37995,IS38145,IS38146,IS38152,IS38176,IS38211,IS38216,IS38264,IS38330,IS38350,IS38400,IS38552,IS38743,IS39000,IS39022,IS39326,IS39363,IS39490,IS39660,IS39678,IS39888,IS39923,IS40086,IS40192,IS40234,IS40240,IS40302,IS40304,IS40368,IS40382,IS40552,IS40557,IS40606,IS40622,IS40643,IS40680,IS40708,IS40716,IS40728,IS40776,IS40802,IS40928,IS41054,IS41061,IS41166,IS41483,IS41657,IS41747,IS41771,IS41783,IS41830,IS41831,IS41832,IS41847,MS10241,MS10356,MS10386,MS10393,MS10720,MS10727,MS11237,MS11467,MS11738,MS12018,MS12130,MS12493,MS12640,MS12722,MS12731,MS12963,MS12983,MS13028,MS13211,MS13469,MS13480,MS13783,MS13791,MS13957,MS14019,MS14247,MS14942,MS15008,MS15097,MS15165,MS15188,MS15234,MS15269,MS15398,MS15601,MS15628,MS15643,MS15749,MS15788,MS15921,MS15923,MS15942,MS16315,MS16337,MS16459,MS16709,MS16801,MS16885,MS16921,MS17208,MS17536,MS17611,MS17674,MS17691,MS17696,MS17794,MS17906,MS18080,MS18453,MS18503,MS18568,MS18620,MS18756,MS18853,MS18911,MS19003,MS19083,MS19119,MS19276,MS19340,MS19634,MS20047,MS20073,MS20211,MS20288,MS20406,MS20503,MS20550,MS20681,MS21059,MS21100,MS21483,MS21709,MS21771,MS21840,MS21928,MS22273,MS22393,MS22454,MS22492,MS22639,MS23071,MS23098,MS23142,MS23147,MS23163,MS23191,MS23541,MS23768,MS23916,MS24011,MS24083,MS24172,MS24210,MS24498,MS24805,MS24808,MS24872,MS24873,MS25197,MS25241,MS25284,MS25303,MS25327,MS25429,MS25580,MS25653,MS25700,MS25710,MS25747,MS25751,MS25755,MS25768,MS25839,SP50076,SP50543,SP50725,SP51049,SP51054,SP52081,SP52454,SP52455,SP52518,SP52571,SP52572,SP52633,SP52940,SP53302,SP53399,SP53426,SP53441,SP53451,SP53531,SP53933,SP54042,SP54171,SP54183,SP54645,SP54761,SP54859,SP54968,SP55024,SP55032,SP55473,SP55567,SP56138,SP56197,SP56574,SP56689,SP56724,SP56783,SP56787,SP56802,SP56805,SP56852,SP56983,SP57147,SP57158,SP57570,SP57717,SP57779,SP57865,SP57950,SP57965,SP58008,SP58097,SP58575,SP80947,SP81202,SP81254,SP81335,SP81383,SP81389,SP81422,SP81464,SP81543,SP81566,SP81571,SP81574 dgv2340n71 15 32447708 32658588 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv903997,nsv904004,nsv903993,nsv904028,nsv903991 M 6533 7 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS31757,IS40292,MS14326,MS15600,SP50082,SP55748,SP81203 dgv733e1 15 32447708 32686160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19303,essv5661,essv18574,essv2423 M 271 0 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 NA07022,NA10851,NA18526,NA18951 nsv9240 15 32447734 32456484 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22465 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 esv27955 15 32447812 32662643 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18849,esv10163,esv9992,esv16717,esv14160 M 451 39 1 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv482177 15 32458564 32487180 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558538 S 1 1 0 GOLGA8A,MIR1233-1,MIR1233-2 KB1 nsv819187 15 32458869 32655070 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418790 S 2 1 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 AK1 esv992827 15 32460115 32659731 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586514 S 3 1 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 HuRef nsv903995 15 32460350 32595161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538240 S 6533 1 0 GOLGA8A,MIR1233-1,MIR1233-2 MS13548 dgv2341n71 15 32460350 32664801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904003,nsv904013,nsv903996,nsv904030 M 6533 0 6 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS31096,IS35726,IS38579,IS41319,MS12913,MS13436 nsv9241 15 32460923 32664534 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21546,nssv22466,nssv19660,nssv23590,nssv25254,nssv22294,nssv22515,nssv22525,nssv23478,nssv23562,nssv27452,nssv22863,nssv19805,nssv24363,nssv25625,nssv22158,nssv20572,nssv21302,nssv19690,nssv25926,nssv19720,nssv26120,nssv23506,nssv25304,nssv19999,nssv19775,nssv21976,nssv21946,nssv25602,nssv23543,nssv23534,nssv20201,nssv25322,nssv21916,nssv22495,nssv24510,nssv22130,nssv25279,nssv22406,nssv25905,nssv25329,nssv22892,nssv23598,nssv22277,nssv23570,nssv25297,nssv19835,nssv24337,nssv26101 M 31 26 1 Samples from several populations that are part of the HapMap project. GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 dgv2342n71 15 32471896 32563312 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv904006,nsv904016,nsv904015,nsv903998 M 6533 8 70 GOLGA8A IS31011,IS33691,IS34737,IS35354,IS35771,IS36882,IS38671,IS39316,IS39325,IS41452,IS41802,IS41842,IS41848,MS10282,MS10682,MS10695,MS10733,MS10999,MS11135,MS11923,MS12149,MS12206,MS12286,MS12545,MS12609,MS12785,MS13114,MS13241,MS13319,MS14164,MS14316,MS14469,MS14696,MS15103,MS15242,MS15779,MS15782,MS16667,MS16740,MS16859,MS18414,MS18789,MS18917,MS19008,MS19858,MS19917,MS20302,MS20919,MS21958,MS22505,MS22809,MS23258,MS23787,MS24337,MS24357,MS24393,MS24447,MS24690,MS24701,MS24969,MS25216,SP50555,SP51296,SP53323,SP53550,SP54030,SP55061,SP55526,SP56289,SP56542,SP56766,SP56894,SP57536,SP57831,SP58433,SP81264,SP81364,SP81437 dgv2343n71 15 32471896 32599965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904000,nsv904009,nsv904022,nsv903999 M 6533 0 7 GOLGA8A IS30181,IS35145,IS35244,IS38642,MS11361,SP53060,SP81534 dgv2344n71 15 32471896 32606592 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv904024,nsv904002,nsv904021,nsv904020 M 6533 13 31 GOLGA8A,GOLGA8B IS30133,IS30483,IS30542,IS34750,IS34970,IS35509,IS35538,IS35640,IS36939,IS37157,IS38472,IS38484,IS38995,IS39940,IS40947,MS12045,MS18274,MS18873,MS21020,MS21249,SP50118,SP50532,SP50665,SP50927,SP51244,SP51352,SP51432,SP52559,SP53349,SP54367,SP54559,SP54626,SP54673,SP55039,SP55131,SP55265,SP55694,SP55878,SP55915,SP55966,SP56231,SP56976,SP57190,SP81158 nsv110 15 32472522 32628056 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv110 S 1 0 1 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 NA15510 nsv904005 15 32481609 32547940 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559709 S 6533 1 0 GOLGA8A MS24100 dgv2345n71 15 32481609 32575858 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904007,nsv904014,nsv904018,nsv904019,nsv904008,nsv904017 M 6533 0 29 GOLGA8A IS32800,IS33702,IS34207,IS38627,IS39113,IS39521,IS40898,MS10362,MS11629,MS16423,MS16467,MS16559,MS16647,MS17112,MS17974,MS18824,MS19831,MS20969,MS24587,MS24909,MS25674,MS25731,SP51427,SP52378,SP53184,SP56828,SP58325,SP58389,SP58506 dgv2346n71 15 32481609 32631865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904056,nsv904032,nsv904012,nsv904026,nsv904027,nsv904042,nsv904041,nsv904043 M 6533 0 19 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS30516,IS30669,IS31021,IS38008,IS38047,IS41938,MS11431,MS12630,MS13286,MS14035,MS14779,MS15286,MS16164,MS16381,MS18819,MS22440,MS23587,MS25028,SP54083 nsv821682 15 32481879 32652370 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421311,nssv1421314,nssv1421312 M 31 0 3 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 nsv904029 15 32487589 32658588 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554691,nssv1578235,nssv1588972,nssv1529336 M 6533 2 2 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS34742,IS38271,MS20888,SP81504 nsv442698 15 32487975 32617680 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 nsv820992 15 32489309 32494710 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421118 S 1 0 1 GOLGA8A NA10851 nsv94645 15 32489310 32494555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113223 M 24 GOLGA8A dgv734e1 15 32496798 32698469 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18694,essv8414,essv92,essv6745,essv11367,essv2926,essv6451,essv12049,essv9950,essv24099,essv7898,essv23634,essv5824,essv13503,essv17679,essv711,essv20527,essv1691,essv15912,essv25077,essv22014,essv1049,essv20154,essv9565,essv3912 M 271 0 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 NA07048,NA07055,NA10835,NA11832,NA12056,NA12716,NA12815,NA12892,NA18501,NA18562,NA18566,NA18592,NA18858,NA18914,NA18940,NA18960,NA18968,NA18975,NA19005,NA19007,NA19093,NA19204,NA19205,NA19238,NA19239 dgv735e1 15 32496798 32775539 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19406,essv23613,essv373 M 271 0 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 NA11840,NA12006,NA18971 dgv736e1 15 32498326 32602617 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12902,essv7679,essv12937,essv7925,essv18817,essv11319,essv8529,essv7258,essv6456,essv14685,essv16582,essv4216,essv14232,essv8692,essv24540,essv3843,essv3428,essv12867,essv7948,essv20829 M 271 0 0 GOLGA8A NA10855,NA11831,NA12248,NA18502,NA18522,NA18523,NA18609,NA18620,NA18635,NA18637,NA18860,NA18863,NA18912,NA18913,NA18953,NA18956,NA19094,NA19145,NA19203,NA19209 nsv820603 15 32505223 32605287 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421119 S 1 0 1 GOLGA8A,GOLGA8B NA10851 nsv827291 15 32505223 32605287 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433989,nssv1436075 M 31 2 0 GOLGA8A,GOLGA8B NA18526,NA18592 nsv471237 15 32505886 32587886 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545717,nssv545708,nssv545709,nssv545707,nssv545711,nssv545712,nssv545706,nssv545714,nssv545718,nssv545716,nssv545715,nssv545713,nssv545719,nssv545720 M 443 14 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GOLGA8A HGDP00449,HGDP00450,HGDP00461,HGDP00462,HGDP00463,HGDP00469,HGDP00470,HGDP00568,HGDP00582,HGDP00706,HGDP00708,HGDP00982,HGDP01089,HGDP01413 dgv21n64 15 32505886 32587887 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array nsv817683,nsv817685 M 112 4 18 GOLGA8A NA10835,NA10851,NA10863,NA12056,NA12248,NA12264,NA12878,NA12892,NA18609,NA18856,NA18951,NA18953,NA18960,NA18968,NA19093,NA19094,NA19144,NA19145,NA19171,NA19173,NA19238,NA19239 dgv311n27 15 32505886 32587887 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456847,nsv456855,nsv456922,nsv456843,nsv456902,nsv456858,nsv456923,nsv456882,nsv456827,nsv456867,nsv456833,nsv456832,nsv456831,nsv456856,nsv456838,nsv456839,nsv456887,nsv456842,nsv456910,nsv456869,nsv456840,nsv456824,nsv456849,nsv456876 M 1557 24 0 GOLGA8A 1780854518_A,1798860047_A,1798860072_A,HGDP00005,HGDP00118,HGDP00279,HGDP00302,HGDP00307,HGDP00450,HGDP00462,HGDP00463,HGDP00469,HGDP00470,HGDP00568,HGDP00582,HGDP00708,HGDP00732,HGDP00791,HGDP00977,HGDP01096,HGDP01195,HGDP01340,NINDS_10,NINDS_84 dgv312n27 15 32505886 32587887 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456866,nsv456851,nsv456798,nsv456828,nsv456925,nsv456893,nsv456888,nsv456859,nsv456801,nsv456804,nsv456873,nsv456814,nsv456835,nsv456826,nsv456868,nsv456896,nsv456807,nsv456881,nsv456913,nsv456903,nsv456810,nsv456911,nsv456809,nsv456805,nsv456845,nsv456891,nsv456860,nsv456920,nsv456857,nsv456872,nsv456821,nsv456870,nsv456837,nsv456890,nsv456906,nsv456803,nsv456854,nsv456818,nsv456878,nsv456884,nsv456916,nsv456894,nsv456822,nsv456895,nsv456815,nsv456921,nsv456875,nsv456794,nsv456825,nsv456905,nsv456811,nsv456850,nsv456813,nsv456904,nsv456816,nsv456806,nsv456918,nsv456917,nsv456871,nsv456834,nsv456880,nsv456846,nsv456899,nsv456864,nsv456800,nsv456907,nsv456877,nsv456844,nsv456915,nsv456802,nsv456914,nsv456836,nsv456924,nsv456848,nsv456796,nsv456817,nsv456793,nsv456909,nsv456901,nsv456898,nsv456892,nsv456862,nsv456900,nsv456829,nsv456853,nsv456823,nsv456883,nsv456912,nsv456812,nsv456820,nsv456799,nsv456865,nsv456879,nsv456795,nsv456861,nsv456889 M 1557 0 96 GOLGA8A 1780854117_A,1780854118_A,1780854128_A,1780854185_A,1780854294_A,1780854299_A,1780854341_A,1780854557_A,1780862094_A,1780862301_A,1780862309_A,1780862310_A,1780862435_A,1780862461_A,1780862521_A,1782681076_A,1782681091_A,1782681110_A,1782681208_A,1782681296_A,1787431198_A,1798860049_A,1798860210_A,1798860251_A,1798860277_A,1798860371_A,HGDP00099,HGDP00116,HGDP00133,HGDP00136,HGDP00151,HGDP00177,HGDP00251,HGDP00258,HGDP00267,HGDP00315,HGDP00376,HGDP00397,HGDP00433,HGDP00515,HGDP00524,HGDP00541,HGDP00545,HGDP00550,HGDP00580,HGDP00635,HGDP00643,HGDP00674,HGDP00679,HGDP00693,HGDP00734,HGDP00756,HGDP00796,HGDP00797,HGDP00868,HGDP00881,HGDP00903,HGDP00906,HGDP00910,HGDP00931,HGDP00941,HGDP01064,HGDP01073,HGDP01097,HGDP01166,HGDP01167,HGDP01171,HGDP01187,HGDP01200,HGDP01201,HGDP01253,HGDP01257,HGDP01312,HGDP01334,HGDP01363,HGDP01386,HGDP01405,HGDP01412,HGDP01418,NINDS_109,NINDS_111,NINDS_129,NINDS_134,NINDS_147,NINDS_160,NINDS_200,NINDS_201,NINDS_227,NINDS_23,NINDS_230,NINDS_234,NINDS_256,NINDS_44,NINDS_57,NINDS_59,NINDS_6 dgv2347n71 15 32505886 32606592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904031,nsv904047,nsv904037,nsv904038,nsv904036,nsv904040 M 6533 0 29 GOLGA8A,GOLGA8B IS30564,IS35440,IS35523,IS36715,IS37713,IS38593,IS38804,IS39721,IS41042,MS13444,MS14454,MS14947,MS14953,MS16506,MS17502,MS18935,MS20170,SP50094,SP51118,SP51161,SP52431,SP52904,SP53990,SP54173,SP54345,SP54879,SP56125,SP57905,SP80982 dgv313n27 15 32505886 32658588 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456949,nsv457048,nsv456960,nsv457024,nsv456947,nsv456937,nsv457015,nsv456976,nsv457012,nsv456986,nsv457033,nsv456950,nsv457064,nsv457042,nsv457017,nsv456982,nsv456940,nsv457054,nsv456929,nsv456978,nsv457061,nsv457003,nsv457032,nsv456939,nsv456968,nsv456962,nsv456971,nsv456927,nsv457035,nsv457034,nsv456988,nsv457056,nsv457060,nsv456967,nsv457036,nsv456934,nsv457050,nsv457038,nsv456961,nsv457021,nsv456991,nsv457031,nsv457046,nsv456983,nsv456979,nsv457062,nsv456938,nsv456933,nsv457027,nsv457051,nsv456970,nsv456981,nsv456955,nsv457067,nsv456990,nsv457001,nsv456932,nsv457022,nsv457059,nsv456987,nsv457044,nsv456926,nsv456951,nsv456995,nsv457029,nsv457007,nsv456989,nsv456964,nsv457040,nsv457058,nsv457039,nsv457005,nsv457020,nsv456931,nsv456966,nsv457069,nsv457014,nsv457028,nsv456935,nsv457013,nsv456945,nsv456954,nsv456959,nsv456956,nsv456998,nsv457045,nsv457006,nsv457002,nsv457047,nsv456942,nsv456936,nsv456984,nsv456994,nsv456972,nsv456948,nsv457057,nsv456977,nsv457065,nsv456973,nsv457043,nsv457016,nsv456943,nsv457000,nsv457023,nsv456958,nsv457009,nsv456957,nsv456975,nsv457070,nsv456980,nsv457053,nsv456944,nsv456928,nsv456993,nsv456953,nsv457055,nsv457004 M 1557 0 117 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 1780846030_A,1780854023_A,1780854238_A,1780854264_A,1780854318_A,1780854327_A,1780854334_A,1780854463_A,1780854537_A,1780862084_A,1780862085_A,1780862126_A,1780862197_A,1780862227_A,1780862304_A,1780862355_A,1780862378_A,1780862415_A,1780862424_A,1780862437_A,1780862448_A,1780862460_A,1780862470_A,1780862539_A,1780862547_A,1780862577_A,1780862578_A,1780862584_A,1780862585_A,1782681080_A,1782681111_A,1782681142_A,1782681275_A,1782681378_A,1782681495_A,1788485589_A,1798860491_A,1798860565_A,HGDP00035,HGDP00070,HGDP00100,HGDP00131,HGDP00135,HGDP00146,HGDP00148,HGDP00181,HGDP00183,HGDP00189,HGDP00191,HGDP00210,HGDP00226,HGDP00298,HGDP00412,HGDP00417,HGDP00438,HGDP00455,HGDP00491,HGDP00540,HGDP00544,HGDP00547,HGDP00552,HGDP00554,HGDP00556,HGDP00579,HGDP00601,HGDP00613,HGDP00630,HGDP00669,HGDP00670,HGDP00682,HGDP00686,HGDP00701,HGDP00772,HGDP00778,HGDP00794,HGDP00814,HGDP00870,HGDP00877,HGDP00975,HGDP01009,HGDP01027,HGDP01029,HGDP01059,HGDP01081,HGDP01153,HGDP01184,HGDP01202,HGDP01221,HGDP01237,HGDP01245,HGDP01254,HGDP01275,HGDP01283,HGDP01290,HGDP01300,HGDP01318,HGDP01338,HGDP01348,HGDP01350,HGDP01376,HGDP01377,HGDP01403,HGDP01408,NINDS_110,NINDS_114,NINDS_116,NINDS_181,NINDS_199,NINDS_217,NINDS_226,NINDS_243,NINDS_245,NINDS_247,NINDS_29,NINDS_60,NINDS_80,NINDS_85 dgv314n27 15 32505886 32658588 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456946,nsv457068,nsv456999,nsv457010,nsv457026,nsv457066,nsv456969,nsv456965,nsv457049,nsv457011,nsv457018,nsv457037,nsv456992,nsv457025 M 1557 14 0 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 1780854039_A,1780854129_A,1780862108_A,1780862452_A,1788485588_A,1798860443_A,HGDP00461,HGDP00706,HGDP00799,HGDP01303,HGDP01375,NINDS_202,NINDS_209,NINDS_45 dgv2348n71 15 32506097 32575858 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904033,nsv904035,nsv904034,nsv904046 M 6533 0 38 GOLGA8A IS30146,IS33721,IS34346,IS35803,IS38122,IS40867,MS10226,MS10729,MS10739,MS10970,MS11084,MS11715,MS13157,MS13517,MS14512,MS14971,MS15277,MS15458,MS15780,MS16158,MS16393,MS16774,MS17572,MS18123,MS18252,MS21820,MS22262,MS22606,MS25177,MS26001,SP50528,SP52297,SP52593,SP55346,SP55803,SP55868,SP56549,SP58003 dgv2349n71 15 32506097 32625184 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv904039,nsv904055,nsv904049,nsv904048 M 6533 9 350 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS30041,IS30206,IS30224,IS30276,IS30325,IS30350,IS30490,IS30967,IS31385,IS31479,IS31563,IS32166,IS32343,IS32395,IS32666,IS32703,IS32719,IS32770,IS32808,IS32864,IS32990,IS33627,IS33632,IS33712,IS33738,IS33768,IS33788,IS34497,IS34632,IS34658,IS34714,IS34755,IS35014,IS35027,IS35181,IS35261,IS35300,IS35548,IS35572,IS35671,IS35742,IS35783,IS35910,IS36049,IS36071,IS36552,IS36698,IS36785,IS36936,IS36975,IS37059,IS37293,IS37329,IS37346,IS37393,IS37734,IS38058,IS38153,IS38198,IS38199,IS38235,IS38290,IS38379,IS38390,IS38391,IS38436,IS38459,IS38477,IS38646,IS38665,IS38704,IS39194,IS39330,IS39341,IS39388,IS39450,IS39475,IS39512,IS39519,IS39627,IS39929,IS40072,IS40135,IS40245,IS40660,IS40662,IS40828,IS41008,IS41098,IS41284,IS41308,IS41788,IS41791,IS41894,IS41991,MS10119,MS10121,MS10184,MS10287,MS10350,MS10391,MS10401,MS10544,MS10548,MS10611,MS10686,MS10698,MS10797,MS10821,MS10897,MS10922,MS10983,MS11078,MS11080,MS11097,MS11105,MS11355,MS11482,MS11652,MS11666,MS11836,MS11867,MS11919,MS12520,MS12561,MS12727,MS12751,MS12932,MS12964,MS13154,MS13206,MS13228,MS13254,MS13426,MS13500,MS13538,MS13757,MS13793,MS13803,MS13813,MS14256,MS14437,MS14601,MS14617,MS14681,MS14724,MS14809,MS15066,MS15084,MS15150,MS15175,MS15199,MS15243,MS15307,MS15371,MS15508,MS15682,MS15973,MS16124,MS16153,MS16228,MS16355,MS16447,MS16477,MS16786,MS16796,MS16947,MS16986,MS17019,MS17130,MS17316,MS17449,MS17642,MS17913,MS18070,MS18130,MS18247,MS18348,MS18365,MS18376,MS18648,MS18658,MS18748,MS18976,MS19002,MS19017,MS19093,MS19438,MS19454,MS19458,MS19529,MS19637,MS19638,MS19843,MS20011,MS20042,MS20543,MS20618,MS20717,MS20797,MS20828,MS20830,MS20843,MS20857,MS20860,MS20987,MS21038,MS21118,MS21258,MS21315,MS21491,MS21671,MS21700,MS21789,MS21803,MS21924,MS22114,MS22297,MS22337,MS22343,MS22421,MS22465,MS22608,MS22728,MS22863,MS22970,MS23160,MS23356,MS23488,MS23577,MS23582,MS23628,MS23648,MS23714,MS23770,MS23977,MS24003,MS24015,MS24419,MS24600,MS24623,MS24719,MS24738,MS24752,MS24812,MS24875,MS24888,MS24971,MS25092,MS25377,MS25475,MS25544,MS25730,MS25750,MS25943,MS25980,MS26019,SP50023,SP50027,SP50066,SP50074,SP50103,SP50128,SP50148,SP50585,SP50711,SP50796,SP50839,SP51060,SP51134,SP51182,SP51483,SP51494,SP52035,SP52114,SP52160,SP52292,SP52456,SP52543,SP52612,SP52625,SP52700,SP52717,SP52719,SP53407,SP53490,SP53602,SP53732,SP53759,SP53781,SP53895,SP54007,SP54108,SP54119,SP54148,SP54384,SP54389,SP54393,SP54510,SP54517,SP54524,SP54622,SP54627,SP54693,SP54760,SP54766,SP54768,SP54774,SP54901,SP54950,SP54999,SP55026,SP55092,SP55212,SP55360,SP55394,SP55463,SP55531,SP55610,SP55637,SP55642,SP55717,SP55750,SP55789,SP55842,SP55851,SP55856,SP55883,SP55937,SP55946,SP55984,SP56005,SP56104,SP56128,SP56152,SP56172,SP56301,SP56387,SP56580,SP56816,SP56965,SP57070,SP57278,SP57478,SP57501,SP57856,SP57884,SP58068,SP58114,SP58141,SP80930,SP81024,SP81091,SP81092,SP81213,SP81345,SP81381,SP81408,SP81538 dgv2350n71 15 32506097 32658588 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904063,nsv904066,nsv904057,nsv904044 M 6533 0 8 GOLGA8A,GOLGA8B,MIR1233-1,MIR1233-2 IS30925,IS31748,IS33196,MS13441,MS13502,MS22353,MS24275,SP57174 nsv438269 15 32509102 32596273 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470661,nssv470664,nssv470662 M 269 0 3 Samples from several populations that are part of the HapMap project. GOLGA8A NA18500,NA18521,NA19144 nsv904045 15 32509924 32563312 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505002,nssv1504648,nssv1517436,nssv1499928,nssv1503037,nssv1513780,nssv1502942,nssv1502463,nssv1506403,nssv1519169 M 6533 2 8 GOLGA8A SP50176,SP51192,SP51457,SP51480,SP52688,SP52951,SP54299,SP55843,SP57273,SP80975 nsv827292 15 32514933 32595102 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424566 S 31 0 1 GOLGA8A NA18582 dgv2351n71 15 32517243 32606592 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904058,nsv904050 M 6533 2 0 GOLGA8B SP50085,SP50099 dgv2352n71 15 32518050 32568552 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904051,nsv904052 M 6533 2 0 "" SP51368,SP54043 dgv2353n71 15 32518050 32595161 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904054,nsv904059,nsv904053,nsv904060 M 6533 0 6 "" IS30332,IS35099,IS39860,MS11993,MS16981,MS19289 nsv469685 15 32518463 32669922 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649616 M 265 0 5 Samples from several populations that are part of the HapMap project. GOLGA8B,MIR1233-1,MIR1233-2 esv2499390 15 32528586 32530105 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317258 S 1 0 1 "" NA18507 esv5106 15 32528621 32556540 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27547 S 1 0 1 Single Asian sample YH "" YH esv1972745 15 32528847 32529494 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637321 S 1 0 1 "" NA18507 esv7452 15 32529034 32529321 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29893 S 1 0 1 "" SJK nsv433434 15 32529325 32599965 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463315 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 dgv315n27 15 32530025 32587887 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457075,nsv457077,nsv457083,nsv457076,nsv457080,nsv457081,nsv457079,nsv457073,nsv457078,nsv457082,nsv457072,nsv457071 M 1557 0 12 "" 1780854568_A,1780854573_A,1780862077_A,1798860292_A,HGDP00103,HGDP00127,HGDP00600,HGDP00768,HGDP00879,HGDP01373,HGDP01411,NINDS_163 dgv2354n71 15 32530025 32625184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904061,nsv904065,nsv904062,nsv904064 M 6533 0 29 GOLGA8B,MIR1233-1,MIR1233-2 IS30098,IS30284,IS31799,IS32633,IS32736,IS34482,IS35411,IS36262,IS37292,IS38016,IS38611,IS40520,IS40603,IS40658,MS12033,MS12946,MS15771,MS16611,MS17580,MS18255,MS18487,MS19698,MS21192,MS24173,MS24533,MS24662,MS24854,MS25853,SP53332 nsv827293 15 32530659 32546851 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436177 S 31 1 0 "" NA18566 esv2287660 15 32534146 32534773 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863064 S 1 0 1 "" NA18507 esv8919 15 32534265 32534601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31360 S 1 0 1 "" SJK dgv737e1 15 32534734 32602617 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9498,essv3660,essv13273,essv7440,essv13341 M 271 0 0 "" NA18500,NA18521,NA18582,NA18991,NA19201 essv985 15 32534734 32660555 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GOLGA8B,MIR1233-1,MIR1233-2 NA18964 dgv2355n71 15 32549650 32606592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904068,nsv904067 M 6533 0 2 GOLGA8B SP53572,SP54471 esv2751533 15 32564059 32772283 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989873,essv6983884 M 771 0 1 GOLGA8B,MIR1233-1,MIR1233-2 BEC_728 nsv827294 15 32596909 32605287 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424567 S 31 0 1 GOLGA8B NA18582 nsv510658 15 32621769 32644085 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620082 S 4 0 1 GOLGA8B NA15510 nsv832965 15 32623288 32788452 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451874 S 95 0 1 GOLGA8B nsv820789 15 32635546 32640874 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421120 S 1 0 1 GOLGA8B NA10851 nsv832966 15 32643024 32698469 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451876,nssv1451875,nssv1451879,nssv1451877,nssv1451878 M 95 0 5 GOLGA8B esv2281816 15 32652620 32653176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746068 S 1 0 1 GOLGA8B NA18507 essv14657 15 32688453 32729249 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19145 dgv316n27 15 32715940 32769676 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457087,nsv457089,nsv457090,nsv457099,nsv457088,nsv457091 M 1557 0 6 "" 1780862528_A,1782681080_A,HGDP01166,NINDS_57,NINDS_67,NINDS_85 dgv110e55 15 32716663 32772283 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751534,esv2751535 M 771 0 2 "" BEC_303,BEC_95 nsv517692 15 32717247 32769676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652861,nssv671188,nssv675489,nssv676807,nssv664280,nssv688421,nssv683466,nssv660244,nssv664472,nssv689418,nssv664593 M 2026 0 11 "" nsv904069 15 32717247 32772706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547754 S 6533 0 1 "" MS17536 esv2068348 15 32717855 32718543 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834680 S 1 0 1 "" NA18507 esv2984 15 32717917 32718560 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25425 S 1 0 1 Single Asian sample YH "" YH nsv522411 15 32741278 33250273 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695193 S 2026 1 0 ACTC1,AQR,GJD2,ZNF770 nsv457105 15 32741576 32769236 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534371 S 1557 0 1 "" 1780854573_A esv272363 15 32745645 32746720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578906 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270388 15 32745701 32746627 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508956,essv2506183,essv2512038 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18523,NA19238 nsv904070 15 32772706 32802086 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570024,nssv1570413 M 6533 2 0 "" IS31765,IS31980 esv33910 15 32775194 32778261 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99473 S 51 0 1 "" 22335 nsv524072 15 32775206 32775283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699940 S 2026 0 1 "" esv2654909 15 32795599 32797326 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206909 S 1 0 1 "" NA18507 esv2151325 15 32796115 32796852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810561 S 1 0 1 "" NA18507 esv4532 15 32796271 32796756 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26973 S 1 0 1 Single Asian sample YH "" YH esv995108 15 32796308 32796642 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572944 S 3 0 1 "" HuRef esv1761256 15 32796325 32796660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977034 S 2 0 1 "" HuRef esv8493 15 32796347 32796646 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30934 S 1 0 1 "" SJK nsv457106 15 32837079 33014905 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534372 S 1557 1 0 ACTC1,AQR 1780862252_A esv7257 15 32862336 32862387 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29698 S 1 1 0 "" SJK nsv832967 15 32897394 33055198 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451880 S 95 0 1 AQR esv2439220 15 32922877 32924682 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276035 S 1 0 1 "" NA18507 dgv2356n71 15 32938189 33046668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904071,nsv904072 M 6533 0 2 AQR MS19634,MS23290 nsv507772 15 32980950 32986950 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617896,nssv620577,nssv623182,nssv619138 M 4 4 0 AQR CHM,NA10860,NA15510,NA18994 esv28857 15 32984114 32985129 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18924 S 451 0 1 AQR NA19129 nsv827295 15 33058701 33062937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432415 S 31 1 0 ZNF770 AK20 esv259957 15 33188842 33189175 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400921,essv2400762,essv2398266,essv2395716,essv2395494,essv2398949,essv2398764 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11993,NA12717,NA12763,NA18532,NA18563,NA18603,NA19005 nsv904073 15 33254388 33473559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545159 S 6533 0 1 ANP32AP1,ATPBD4,MIR3942 MS16704 nsv94632 15 33255154 33255222 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113210 M 24 "" esv273020 15 33260875 33261154 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579995,essv2581017 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238 esv271009 15 33260889 33261225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546482,essv2521086,essv2526059,essv2568297,essv2545303,essv2531973,essv2577593,essv2525520,essv2535190,essv2520691,essv2529337,essv2558523,essv2564700,essv2577650,essv2559505,essv2564044,essv2530546,essv2546705,essv2551934,essv2527251,essv2544779,essv2563090,essv2523921,essv2553003,essv2541114,essv2538368,essv2542909,essv2540366,essv2524699,essv2565159,essv2534838,essv2561112,essv2549592,essv2521922,essv2566102,essv2532722,essv2567762,essv2528849,essv2541684,essv2570007,essv2553293,essv2572407,essv2559019,essv2542107,essv2550953,essv2533831,essv2578448,essv2573108,essv2555442,essv2555753,essv2566606,essv2530143,essv2573956,essv2527703,essv2556049,essv2534350,essv2522522,essv2531348,essv2573414,essv2543350,essv2577123,essv2571889,essv2525592,essv2526843,essv2560615,essv2571413,essv2545901,essv2574340 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA11995,NA12003,NA12006,NA12043,NA12156,NA12249,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12828,NA12873,NA12892,NA18504,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18571,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18609,NA18638,NA18856,NA18858,NA18916,NA18940,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19116,NA19238,NA19239,NA19240 nsv1486 15 33281540 33323841 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6626 S 9 0 1 ANP32AP1 NA12156 nsv1487 15 33308082 33337837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5549 S 9 1 0 ANP32AP1 NA19129 esv2464651 15 33317874 33323761 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268608 S 1 0 1 "" NA18507 nsv498844 15 33318227 33323313 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585705 S 9 0 1 "" esv3486 15 33376269 33376552 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25927 S 1 0 1 Single Asian sample YH "" YH nsv832968 15 33428677 33577913 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451881 S 95 0 1 ATPBD4,MIR3942 nsv507773 15 33433636 33439636 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623183 S 4 1 0 "" NA18994 nsv1489 15 33440097 33475033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1247 S 9 1 0 ATPBD4,MIR3942 NA19240 esv273464 15 33449774 33450025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581002 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv996040 15 33550775 33551344 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587023 S 3 0 1 ATPBD4 HuRef nsv904074 15 33550949 33645702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567602,nssv1588888,nssv1567214,nssv1571191 M 6533 0 4 ATPBD4,LOC100507466 IS31046,IS31123,IS32615,IS38263 nsv904075 15 33550949 33693021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532692 S 6533 0 1 ATPBD4,LOC100507466 MS10802 esv274981 15 33574986 33590674 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585801 S 1250 0 1 ATPBD4 esv27560 15 33737454 33738244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14215 S 451 0 1 LOC100507466 NA12749 esv2572035 15 33767716 33769104 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242957 S 1 0 1 LOC100507466 NA18507 nsv1490 15 33801517 33834855 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7156 S 9 0 1 LOC100507466 NA12156 esv25308 15 33807111 33807787 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12567 S 451 0 1 LOC100507466 NA18909 nsv457109 15 33808912 34101257 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534375 S 1557 1 0 LOC100507466,MIR4510 1780854279_A nsv832970 15 33837409 34058631 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451882 S 95 1 0 LOC100507466,MIR4510 nsv1491 15 33862795 33897960 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1248 S 9 1 0 LOC100507466 NA19240 esv273713 15 33883579 33883916 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581160 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100507466 NA19240 esv271522 15 33883583 33883910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575833,essv2525847,essv2542445,essv2536521,essv2577192,essv2548429,essv2521589,essv2535410,essv2520568,essv2529116,essv2558354,essv2577931,essv2565376,essv2562056,essv2540215,essv2557153,essv2552722,essv2539055,essv2561690,essv2544899,essv2541422,essv2542942,essv2540271,essv2524585,essv2565108,essv2549180,essv2522045,essv2566279,essv2569979,essv2572596,essv2566871,essv2542003,essv2550909,essv2528072,essv2533598,essv2567121,essv2530041,essv2573482,essv2543162,essv2573279,essv2575444,essv2575301,essv2560723,essv2524014,essv2530323,essv2572746,essv2568536,essv2545179,essv2560505,essv2574119,essv2551572,essv2524955,essv2563289 M 157 53 0 Samples from several populations that are part of the HapMap project. LOC100507466 NA07357,NA10847,NA11830,NA11918,NA11919,NA11920,NA12043,NA12045,NA12144,NA12249,NA12716,NA12749,NA12750,NA12761,NA12812,NA12874,NA18489,NA18501,NA18502,NA18519,NA18523,NA18526,NA18545,NA18550,NA18552,NA18555,NA18558,NA18564,NA18571,NA18572,NA18593,NA18609,NA18853,NA18856,NA18858,NA18907,NA18944,NA18947,NA18949,NA18964,NA18965,NA18969,NA19099,NA19102,NA19116,NA19129,NA19141,NA19143,NA19147,NA19172,NA19190,NA19240,NA19257 esv1279339 15 33883616 33883616 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819403 S 2 1 0 LOC100507466 HuRef esv2584984 15 33886243 33887920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245101 S 1 0 1 LOC100507466 NA18507 esv275134 15 33926698 33929244 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585480 S 1250 0 1 LOC100507466 dgv433n67 15 33947331 33949510 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827296,nsv827297,nsv827299 M 31 0 5 "" AK10,NA18547,NA18947,NA18972,NA18997 nsv512391 15 33947354 33949815 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624980 S 1 0 1 "" 1 nsv511558 15 33947404 33952048 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626183 S 1 0 1 "" 1 esv22164 15 33947418 33949497 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12874 S 451 0 13 "" NA11931,NA12004,NA12044,NA12156,NA12414,NA15510,NA18505,NA18517,NA18858,NA18861,NA18916,NA19099,NA19240 esv6074 15 33947420 33949506 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28515 S 1 0 1 "" SJK nsv94804 15 33947423 33949507 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113382 M 24 "" nsv521741 15 34007269 34007327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694505 S 2026 1 0 "" esv9119 15 34035763 34035850 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31560 S 1 1 0 "" SJK nsv510393 15 34060994 34066994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624167 S 4 0 1 "" NA18994 esv5472 15 34211995 34212065 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27913 S 1 1 0 "" SJK esv991842 15 34212062 34212062 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573530 S 3 1 0 "" HuRef nsv94748 15 34212064 34212064 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113326 M 24 "" nsv1492 15 34256590 34301933 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6627 S 9 0 1 "" NA12156 esv2567726 15 34341411 34342877 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393329 S 1 0 1 "" NA18507 esv1160086 15 34357511 34357567 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835358 S 2 0 1 "" HuRef esv1103264 15 34369992 34369992 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322286 S 2 1 0 "" HuRef nsv832971 15 34377739 34564894 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451896,nssv1451900,nssv1451893,nssv1451895,nssv1451890,nssv1451897,nssv1451899,nssv1451892,nssv1451891,nssv1451898,nssv1451894,nssv1451887,nssv1451888,nssv1451905,nssv1451904,nssv1451901,nssv1451889,nssv1451903,nssv1451906,nssv1451902,nssv1451884,nssv1451886,nssv1451883,nssv1451885 M 95 24 0 "" nsv904076 15 34382419 34461053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582127 S 6533 0 1 "" IS35789 esv273908 15 34427355 34427582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579962,essv2580763,essv2578956,essv2579722 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 esv270722 15 34427444 34427760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540109,essv2520885,essv2566758,essv2551039,essv2543552,essv2538813,essv2530423,essv2548119,essv2571521 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18853,NA18858,NA18870,NA19108,NA19141,NA19210,NA19238 nsv904077 15 34446939 34521761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537254 S 6533 0 1 "" MS13143 nsv817686 15 34484794 34492792 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416973 S 112 0 1 "" NA19137 esv995487 15 34485789 34487725 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565423 S 3 1 0 "" HuRef nsv817687 15 34488568 34490537 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416497,nssv1418218 M 112 0 2 "" NA18517,NA19143 nsv516585 15 34488804 34490537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687260,nssv669375,nssv672947,nssv689752,nssv675463 M 2026 0 5 "" nsv522598 15 34488804 34492792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705988 S 2026 0 1 "" nsv1493 15 34496886 34529345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2107 S 9 1 0 "" NA18555 nsv904078 15 34516091 34544675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575417 S 6533 0 1 "" IS33738 nsv1494 15 34530165 34540188 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5550 S 9 1 0 "" NA19129 nsv1495 15 34555657 34588347 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6628 S 9 1 0 "" NA12156 nsv518788 15 34616006 34625472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696241 S 2026 0 1 "" esv270068 15 34616375 34616674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501590,essv2503139 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18608,NA18943 esv2081110 15 34741754 34742207 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4642657 S 1 0 1 C15orf41 NA18507 nsv94945 15 34741934 34741985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113523 M 24 C15orf41 esv1000709 15 34741977 34742028 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569730 S 3 0 1 C15orf41 HuRef esv1525561 15 34741985 34742037 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619725 S 2 0 1 C15orf41 HuRef esv1643729 15 34782726 34782726 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183220 S 2 1 0 C15orf41 HuRef nsv904079 15 35034538 35065479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523469 S 6533 0 1 MEIS2 SP54030 esv2571731 15 35035985 35037313 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328137 S 1 0 1 MEIS2 NA18507 nsv518513 15 35053039 35063531 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695953 S 2026 0 1 MEIS2 nsv1496 15 35092469 35136959 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4145 S 9 0 1 MEIS2 NA12878 nsv904080 15 35243267 35338364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567866 S 6533 0 1 "" IS31166 nsv523457 15 35278063 35282033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699215 S 2026 0 1 "" nsv904081 15 35326139 35350843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583011,nssv1588664 M 6533 0 2 "" IS36219,IS38231 nsv522831 15 35330852 35334040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698481 S 2026 0 1 "" nsv528887 15 35330852 35348081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705570 S 2026 0 1 "" nsv457114 15 35338364 35354053 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534376 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00929 nsv522748 15 35338549 35348081 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698383 S 2026 1 0 "" nsv832972 15 35366288 35529453 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451907 S 95 0 1 "" nsv827300 15 35379387 35390591 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422950 S 31 1 0 "" NA18552 esv273052 15 35495104 35495866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579167 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267879 15 35495129 35495853 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510295,essv2500879,essv2511033,essv2496631,essv2495435,essv2495300,essv2504428,essv2505097,essv2507960,essv2505571,essv2512237,essv2502860,essv2513214,essv2508572,essv2508384,essv2503838,essv2493471,essv2493341,essv2508836,essv2502833,essv2507822,essv2500536,essv2495030 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11830,NA11831,NA11894,NA11919,NA11992,NA11993,NA11995,NA12003,NA12154,NA12155,NA12156,NA12249,NA12717,NA12749,NA12761,NA12763,NA12776,NA12878,NA12892,NA18564,NA18956 dgv738e1 15 35618861 35759779 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv273,essv23955 M 271 0 0 "" NA12814 nsv527145 15 35634924 35636600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703534 S 2026 0 1 "" nsv507774 15 35638885 35644885 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619139,nssv620578 M 4 2 0 "" NA10860,NA15510 nsv9242 15 35704626 35707856 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19780 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12802 esv995352 15 35782755 35797602 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564966 S 3 0 1 "" HuRef esv1985341 15 35891882 35892348 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505553 S 1 0 1 "" NA18507 esv1002855 15 35892073 35892151 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584002 S 3 0 1 "" HuRef esv274956 15 35894688 35899020 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585405,essv2585917 M 1250 1 1 "" esv34182 15 35902976 35979748 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv817688 15 35976099 35982047 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416498,nssv1416499 M 112 0 2 "" NA18515,NA18517 esv2496458 15 36054259 36055944 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226027 S 1 0 1 "" NA18507 esv2415683 15 36054727 36055775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918898 S 1 0 1 "" NA18507 esv274579 15 36126502 36126772 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580564 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267543 15 36126525 36126803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496746,essv2509793,essv2506170,essv2498484,essv2507110,essv2498987,essv2501756 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18523,NA18858,NA18870,NA19114,NA19239 nsv827301 15 36171631 36174159 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430922 S 31 0 1 "" AK16 nsv1497 15 36192336 36201666 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4146 S 9 1 0 "" NA12878 nsv832973 15 36231097 36432174 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451908 S 95 1 0 SPRED1 nsv832974 15 36285898 36477877 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451909 S 95 0 1 SPRED1 nsv525338 15 36314242 36314912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701456 S 2026 0 1 "" dgv2357n71 15 36346266 36419132 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904082,nsv904084,nsv904083 M 6533 0 3 SPRED1 SP51450,SP52122,SP55694 nsv94413 15 36372612 36379191 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112991 M 24 SPRED1 esv6112 15 36381709 36381784 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28553 S 1 1 0 SPRED1 SJK nsv510394 15 36387346 36393346 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618410,nssv624168,nssv622253,nssv621421 M 4 0 4 SPRED1 CHM,NA10860,NA15510,NA18994 nsv1498 15 36442339 36476004 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2930 S 9 1 0 "" NA18555 nsv523391 15 36451059 36476363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699141 S 2026 0 1 "" esv1644942 15 36505296 36505296 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269524 S 2 1 0 "" HuRef nsv1500 15 36506090 36551151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7158 S 9 0 1 FAM98B NA12156 nsv904085 15 36573406 36772805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532999 S 6533 1 0 RASGRP1 MS10968 nsv525770 15 36604125 36872248 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701940 S 2026 1 0 C15orf53,RASGRP1 nsv904086 15 36616490 36718688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540395 S 6533 1 0 RASGRP1 MS14824 esv1008515 15 36756271 36757284 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564537 S 3 1 0 "" HuRef esv2262388 15 36760546 36760920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647322 S 1 0 1 "" NA18507 esv990867 15 36793648 36794644 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586406 S 3 1 0 "" HuRef nsv832975 15 36799207 37014882 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451910 S 95 0 1 "" nsv457115 15 36834091 36869009 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534377 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00540 nsv471239 15 36835523 36884565 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545722 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543 nsv457116 15 36835523 36885641 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534378 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543 nsv507775 15 36849807 36855807 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620579 S 4 1 0 "" NA15510 nsv904087 15 36852716 36904478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559702 S 6533 1 0 "" MS24098 nsv510659 15 36859327 36935883 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618925 S 4 0 1 "" NA10860 nsv904088 15 36869009 36904478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504368 S 6533 1 0 "" SP52439 nsv904089 15 36891981 36904478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500677 S 6533 1 0 "" SP50593 nsv904090 15 36926200 37134484 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523296 S 6533 1 0 "" SP53914 dgv145n21 15 37001150 37008312 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521542,nsv521431 M 2026 0 2 "" nsv522134 15 37050264 37235979 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694908 S 2026 1 0 "" esv2526506 15 37053402 37055132 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340881 S 1 0 1 "" NA18507 esv2139172 15 37054115 37054846 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719847 S 1 0 1 "" NA18507 esv4374 15 37054257 37054789 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26815 S 1 0 1 Single Asian sample YH "" YH esv8832 15 37054305 37054656 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31273 S 1 0 1 "" SJK esv1721277 15 37054308 37054662 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718384 S 2 0 1 "" HuRef esv1948560 15 37068769 37069199 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774878 S 1 0 1 "" NA18507 nsv510395 15 37095844 37101844 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624169,nssv621422 M 4 0 2 "" NA15510,NA18994 esv22738 15 37151366 37160568 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12784,esv10984 M 451 29 0 "" NA07037,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1004454 15 37158402 37165779 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563943 S 3 0 1 "" HuRef nsv512392 15 37159212 37160839 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624981 S 1 0 1 "" 1 esv2439923 15 37159240 37161400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178888 S 1 0 1 "" NA18507 esv999790 15 37159677 37160702 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586986 S 3 1 0 "" HuRef nsv820627 15 37159677 37160702 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421121 S 1 0 1 "" NA10851 nsv827302 15 37159677 37160702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426136,nssv1425331,nssv1430224,nssv1433990,nssv1439286,nssv1427069,nssv1427855,nssv1440660,nssv1433212,nssv1429729,nssv1424568,nssv1438453,nssv1432416,nssv1429410,nssv1437030,nssv1431649,nssv1437766,nssv1439970,nssv1423761,nssv1422171,nssv1422324,nssv1436086,nssv1430156,nssv1436178,nssv1435425,nssv1434713,nssv1422951,nssv1441502,nssv1430923,nssv1428649 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv1009379 15 37159888 37160568 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586104 S 3 1 0 "" HuRef esv2032601 15 37160250 37160682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926493 S 1 0 1 "" NA18507 nsv832976 15 37216584 37259623 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451911,nssv1451912 M 95 2 0 "" nsv526483 15 37230833 37251791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702792 S 2026 0 1 "" esv2579248 15 37238828 37240149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352531 S 1 0 1 "" NA18507 dgv2358n71 15 37297508 37377780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904091,nsv904092,nsv904093 M 6533 0 3 C15orf54 SP53876,SP54704,SP57160 esv2448985 15 37306841 37308468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364061 S 1 0 1 "" NA18507 esv2058583 15 37307203 37307930 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774423 S 1 0 1 "" NA18507 esv5056 15 37307352 37307924 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27497 S 1 0 1 Single Asian sample YH "" YH nsv94777 15 37307395 37307734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113355 M 24 "" esv1363422 15 37307405 37307745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220665 S 2 0 1 "" HuRef esv6782 15 37307407 37307731 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29223 S 1 0 1 "" SJK nsv442699 15 37375518 37379480 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv269492 15 37478863 37479152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540937,essv2546579,essv2521328,essv2526142,essv2542526,essv2536511,essv2522785,essv2544101,essv2570870,essv2556801,essv2568371,essv2545615,essv2523233,essv2531750,essv2577565,essv2550567,essv2550458,essv2535224,essv2554055,essv2544440,essv2552291,essv2520631,essv2547571,essv2529115,essv2558652,essv2564659,essv2577986,essv2553809,essv2559427,essv2576267,essv2520271,essv2530656,essv2562104,essv2537230,essv2528264,essv2546930,essv2530525,essv2520862,essv2557322,essv2532309,essv2569482,essv2527182,essv2561696,essv2544753,essv2562889,essv2523646,essv2541167,essv2538443,essv2542859,essv2540270,essv2524343,essv2560972,essv2559962,essv2566219,essv2531267,essv2532774,essv2568019,essv2528704,essv2541552,essv2569881,essv2563888,essv2553489,essv2535633,essv2572475,essv2559024,essv2541993,essv2569103,essv2556385,essv2527733,essv2562194,essv2534107,essv2578353,essv2533670,essv2566574,essv2530117,essv2557712,essv2522628,essv2531610,essv2573746,essv2577092,essv2571935,essv2526882,essv2529610,essv2526619,essv2560649,essv2524179,essv2560884,essv2574937,essv2530450,essv2545224,essv2549795,essv2571175,essv2545725,essv2574479,essv2551226,essv2536085,essv2548884,essv2533099,essv2554722,essv2547684,essv2524962 M 157 101 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18505,NA18508,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18562,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18861,NA18871,NA18907,NA18909,NA18916,NA18940,NA18944,NA18948,NA18949,NA18953,NA18960,NA18961,NA18964,NA18970,NA18973,NA19005,NA19093,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv273040 15 37478865 37479152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582116,essv2582711,essv2582992,essv2583952,essv2584682,essv2583363 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv996759 15 37478881 37478881 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568865 S 3 1 0 "" HuRef esv1438174 15 37478897 37478897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945791 S 2 1 0 "" HuRef nsv904094 15 37525298 37763349 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521828 S 6533 1 0 FSIP1,THBS1 SP52594 nsv512393 15 37530584 37532843 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624982 S 1 0 1 "" 1 nsv511556 15 37531564 37535681 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626181 S 1 0 1 "" 1 nsv820042 15 37531569 37532192 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419030 S 2 0 1 "" AK1 esv2907 15 37531651 37532273 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25348 S 1 0 1 Single Asian sample YH "" YH dgv434n67 15 37531658 37532162 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827304,nsv827303 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv991700 15 37531682 37532150 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575365 S 3 0 1 "" HuRef esv1448635 15 37531683 37532152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205002 S 2 0 1 "" HuRef esv9690 15 37531687 37532142 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32131 S 1 0 1 "" SJK esv27234 15 37531690 37532136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16434 S 451 0 12 "" NA06985,NA11894,NA11931,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12828,NA15510,NA19129 esv271899 15 37563839 37563913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557881,essv2542421,essv2556491,essv2553520,essv2565293,essv2554909,essv2578660,essv2567724,essv2542150,essv2528075,essv2525589,essv2575497,essv2554659 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11919,NA11994,NA12763,NA12812,NA12872,NA18510,NA18577,NA18856,NA18907,NA18980,NA19099 nsv1501 15 37576510 37598755 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9513 S 9 1 0 "" NA18507 esv270085 15 37599028 37599382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496805,essv2511767,essv2510764,essv2494226,essv2504069,essv2506130,essv2500889,essv2505903,essv2507215,essv2501509,essv2504597,essv2507031,essv2506575,essv2499027,essv2510407,essv2496995,essv2499624,essv2512064,essv2498014 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18501,NA18502,NA18505,NA18523,NA18856,NA18861,NA18870,NA19093,NA19099,NA19102,NA19108,NA19114,NA19172,NA19190,NA19225,NA19238,NA19240 esv273041 15 37599030 37599273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580196,essv2579939 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv832977 15 37604804 37768812 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451913 S 95 1 0 FSIP1,THBS1 nsv507776 15 37610393 37616393 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623184,nssv620580,nssv617897,nssv619140 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv1502 15 37671606 37716260 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7159 S 9 0 1 FSIP1,THBS1 NA12156 nsv832978 15 37687051 37882173 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451914,nssv1451916,nssv1451915 M 95 3 0 FSIP1,GPR176 esv1286390 15 37781929 37781929 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302813 S 2 1 0 FSIP1 HuRef esv24232 15 37796944 37799514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14441,esv20190 M 451 0 2 FSIP1 NA18502,NA18909 nsv832979 15 37829220 38005699 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451917,nssv1451919,nssv1451918,nssv1451920 M 95 1 3 FSIP1,GPR176 nsv832983 15 37886058 38036131 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451921 S 95 1 0 EIF2AK4,GPR176 esv1572077 15 37973568 37973568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236774 S 2 1 0 GPR176 HuRef nsv94402 15 38011319 38011319 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112980 M 24 "" nsv1503 15 38061896 38094380 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10045 S 9 1 0 EIF2AK4 NA18956 nsv516913 15 38066873 38067985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682433,nssv654930,nssv658750 M 2026 0 3 EIF2AK4 esv2606862 15 38130329 38130983 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190315 S 1 1 0 LOC100131089 NA18507 nsv94672 15 38215797 38215849 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113250 M 24 "" nsv904095 15 38312722 38378862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510091 S 6533 0 1 ANKRD63,C15orf56,PAK6,PLCB2 SP54956 nsv471240 15 38315447 38382919 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545723,nssv545724 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD63,C15orf56,PAK6,PLCB2 HGDP00288,HGDP00978 esv34145 15 38336909 38677116 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ANKRD63,BAHD1,C15orf23,C15orf52,C15orf57,CASC5,CHST14,DISP2,IVD,MRPL42P5,PAK6,PHGR1,PLCB2,RPUSD2 dgv2359n71 15 38337441 38392069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904097,nsv904096 M 6533 0 2 ANKRD63,PAK6,PLCB2 IS33504,MS10311 nsv510660 15 38340198 38509175 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620083 S 4 0 1 ANKRD63,C15orf23,C15orf52,DISP2,IVD,PAK6,PHGR1,PLCB2 NA15510 nsv517541 15 38344560 38382919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668844,nssv660429,nssv678807,nssv692537,nssv669798,nssv685331,nssv671568,nssv692799,nssv656052,nssv652307,nssv667247,nssv688330,nssv677810 M 2026 0 13 ANKRD63,PAK6,PLCB2 nsv904098 15 38351868 38373829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510903 S 6533 0 1 ANKRD63,PAK6,PLCB2 SP54988 nsv457118 15 38352997 38393776 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534379 S 1557 0 1 ANKRD63,PAK6,PLCB2 NINDS_70 esv22666 15 38376756 38377676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14610 S 451 0 3 PLCB2 NA19129,NA19147,NA19240 nsv827305 15 38383454 38413214 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441504 S 31 1 0 C15orf52,PLCB2 NA18969 esv270473 15 38423242 38423327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517277 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv820173 15 38448779 38449878 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419169 S 2 1 0 DISP2 AK1 esv1409557 15 38502270 38502270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086108 S 2 1 0 "" HuRef nsv832984 15 38581683 38785827 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451922,nssv1451923 M 95 0 2 C15orf57,CASC5,LOC100505648,MRPL42P5,RAD51,RPUSD2 dgv739e1 15 38619837 38782403 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2504,esv256 M 271 0 0 C15orf57,CASC5,LOC100505648,RAD51,RPUSD2 NA19003 nsv507777 15 38637192 38643192 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619143,nssv623185,nssv620581 M 4 3 0 C15orf57 NA10860,NA15510,NA18994 nsv7263 15 38682751 38703561 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4147,nssv6629 M 9 0 0 CASC5 NA12156,NA12878 esv2135247 15 38683532 38683945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784581 S 1 0 1 CASC5 NA18507 esv992789 15 38683684 38683735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572895 S 3 0 1 CASC5 HuRef nsv904099 15 38736818 38829167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597841 S 6533 0 1 CASC5,FAM82A2,LOC100505648,RAD51 IS41317 nsv529030 15 38743763 38799987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705741 S 2026 0 1 LOC100505648,RAD51 nsv904100 15 38746916 38781998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510092 S 6533 0 1 LOC100505648,RAD51 SP54956 nsv904101 15 38766943 39062306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546869 S 6533 0 1 C15orf62,CHAC1,DLL4,DNAJC17,FAM82A2,GCHFR,INO80,LOC100505648,PPP1R14D,RAD51,RHOV,SPINT1,VPS18,ZFYVE19 MS17208 nsv527234 15 38775017 38818978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703634 S 2026 0 1 FAM82A2,RAD51 esv2478123 15 38782078 38783510 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298763 S 1 0 1 RAD51 NA18507 esv269431 15 38827138 38827431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546496,essv2521040,essv2544139,essv2523359,essv2570527,essv2521000,essv2557567,essv2558719,essv2561320,essv2519573,essv2531199,essv2532906,essv2570154,essv2542028,essv2556345,essv2562541,essv2539372,essv2529890,essv2522366,essv2543393,essv2575554,essv2575298,essv2560756,essv2524196,essv2530266,essv2525154,essv2563140 M 157 27 0 Samples from several populations that are part of the HapMap project. FAM82A2 NA07357,NA10847,NA11881,NA11894,NA11992,NA12004,NA12044,NA18498,NA18499,NA18516,NA18523,NA18566,NA18573,NA18576,NA18593,NA18856,NA18871,NA18909,NA18912,NA18949,NA18960,NA18965,NA19099,NA19102,NA19116,NA19129,NA19141 nsv904102 15 38834175 38988991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573903 S 6533 0 1 C15orf62,DNAJC17,FAM82A2,GCHFR,PPP1R14D,RHOV,SPINT1,VPS18,ZFYVE19 IS33504 nsv827306 15 38851935 38852757 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432420 S 31 0 1 C15orf62,DNAJC17 AK20 esv272589 15 38887588 38887908 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578967 S 7 1 0 Samples from several populations that are part of the HapMap project. ZFYVE19 NA19239 esv267815 15 38887594 38887900 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540880,essv2571775,essv2546214,essv2525948,essv2542386,essv2536425,essv2522981,essv2544206,essv2545686,essv2523195,essv2577319,essv2570383,essv2548528,essv2521723,essv2550736,essv2525441,essv2550341,essv2535197,essv2544563,essv2520603,essv2529130,essv2558352,essv2559668,essv2565391,essv2520052,essv2564301,essv2555121,essv2547121,essv2540195,essv2556985,essv2569204,essv2550114,essv2539091,essv2527161,essv2561475,essv2523732,essv2534855,essv2549347,essv2519588,essv2530932,essv2532806,essv2572585,essv2566862,essv2541950,essv2551055,essv2568895,essv2543424,essv2528047,essv2562478,essv2539310,essv2534031,essv2578246,essv2533709,essv2566506,essv2522636,essv2573378,essv2543380,essv2572055,essv2529714,essv2575605,essv2575076,essv2526588,essv2524143,essv2574656,essv2530319,essv2568647,essv2560478,essv2549648,essv2571187,essv2545994,essv2551553,essv2535962,essv2548998,essv2554630,essv2525089,essv2558015 M 157 76 0 Samples from several populations that are part of the HapMap project. ZFYVE19 NA06986,NA07037,NA07346,NA07357,NA10851,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12234,NA12249,NA12414,NA12716,NA12749,NA12750,NA12776,NA12812,NA12815,NA12828,NA12872,NA12892,NA18489,NA18501,NA18508,NA18511,NA18519,NA18522,NA18523,NA18537,NA18561,NA18564,NA18566,NA18573,NA18576,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18948,NA18960,NA18964,NA18965,NA18973,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19141,NA19147,NA19190,NA19225,NA19238,NA19239,NA19257 dgv2360n71 15 38910464 39062306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904105,nsv904103 M 6533 0 2 CHAC1,DLL4,INO80,RHOV,SPINT1,VPS18 IS39233,MS10311 nsv904104 15 38937116 39022224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585982 S 6533 0 1 DLL4,RHOV,SPINT1,VPS18 IS37646 nsv819345 15 38975605 38978514 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419494 S 2 0 1 VPS18 AK1 nsv904106 15 39008359 39046815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510093 S 6533 0 1 CHAC1,DLL4 SP54956 nsv1504 15 39015841 39048864 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4148 S 9 1 0 CHAC1,DLL4 NA12878 esv2506979 15 39022611 39023592 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301133 S 1 1 0 "" NA18507 esv274390 15 39023126 39023454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584074,essv2584615,essv2583530 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv2496899 15 39110647 39111687 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276051 S 1 1 0 INO80 NA18507 dgv2361n71 15 39148430 39280305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904108,nsv904107 M 6533 0 2 EXD1,INO80 IS34407,IS40819 nsv904109 15 39197997 39268546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509148 S 6533 0 1 EXD1 SP54753 esv28706 15 39210975 39233181 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10980 S 451 1 0 "" NA12878 nsv507778 15 39348739 39354739 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619144 S 4 1 0 CHP NA10860 esv25344 15 39383105 39406647 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14767 S 451 1 0 OIP5 NA19108 nsv524476 15 39476524 39607492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700414 S 2026 0 1 ITPKA,LTK,NDUFAF1,RPAP1,RTF1 nsv1505 15 39531233 39562300 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10046 S 9 1 0 RTF1 NA18956 dgv2362n71 15 39563984 39600571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904111,nsv904110 M 6533 0 2 ITPKA,LTK,RPAP1 SP54956,SP55021 nsv471241 15 39571106 39607492 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545726,nssv545725 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITPKA,LTK,RPAP1 HGDP00546,HGDP00550 esv33378 15 39573797 39593052 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99930 S 51 1 0 ITPKA,LTK 22086 nsv904112 15 39593950 39623526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527809 S 6533 0 1 RPAP1 SP81006 esv988006 15 39803593 39813449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563974 S 3 0 1 MGA HuRef esv3921 15 39804957 39805459 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26362 S 1 0 1 Single Asian sample YH MGA YH esv6726 15 39805015 39805354 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29167 S 1 0 1 MGA SJK nsv94393 15 39805028 39805359 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112971 M 24 MGA esv991459 15 39805037 39805368 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574601 S 3 0 1 MGA HuRef esv1466405 15 39805040 39805372 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225319 S 2 0 1 MGA HuRef dgv740e1 15 39834465 39909909 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5698,esv913 M 271 0 0 JMJD7,JMJD7-PLA2G4B,MAPKBP1,MGA NA18550 dgv2363n71 15 39837682 39907192 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904114,nsv904113 M 6533 3 0 MAPKBP1,MGA IS34386,IS35833,IS38012 nsv904115 15 39863679 39958775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556526,nssv1552139 M 6533 0 2 JMJD7,JMJD7-PLA2G4B,MAPKBP1,MIR4310,PLA2G4B,SPTBN5 MS19226,MS22103 nsv904116 15 39863679 40017144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529867 S 6533 0 1 EHD4,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MIR4310,PLA2G4B,SPTBN5 MS10123 nsv517631 15 39884218 39974784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686868,nssv677235,nssv672157,nssv682320,nssv690496,nssv652598,nssv659851,nssv679020 M 2026 0 8 JMJD7,JMJD7-PLA2G4B,MAPKBP1,MIR4310,PLA2G4B,SPTBN5 nsv9243 15 39888917 39891282 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23626,nssv22324,nssv21594,nssv20231 M 31 4 0 Samples from several populations that are part of the HapMap project. MAPKBP1 NA10839,NA11830,NA12872,NA18975 dgv2364n71 15 39891114 39997685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904118,nsv904124,nsv904125,nsv904117 M 6533 0 5 EHD4,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MIR4310,PLA2G4B,SPTBN5 IS33684,MS10204,MS10311,MS11306,MS16153 nsv904119 15 39897267 39930204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599432 S 6533 0 1 JMJD7,JMJD7-PLA2G4B,MAPKBP1,PLA2G4B,SPTBN5 IS41634 dgv2365n71 15 39897267 39958775 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904120,nsv904121,nsv904122,nsv904123 M 6533 0 5 JMJD7,JMJD7-PLA2G4B,MAPKBP1,MIR4310,PLA2G4B,SPTBN5 MS10769,MS13770,MS17208,MS18276,MS19630 nsv9244 15 39898004 39996097 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27460 S 31 1 0 Samples from several populations that are part of the HapMap project. EHD4,JMJD7,JMJD7-PLA2G4B,MAPKBP1,MIR4310,PLA2G4B,SPTBN5 NA19221 esv1008860 15 39900848 39905002 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564366 S 3 0 1 MAPKBP1 HuRef nsv1506 15 39904223 39936663 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6630 S 9 1 0 JMJD7,JMJD7-PLA2G4B,MAPKBP1,PLA2G4B,SPTBN5 NA12156 nsv904126 15 39920188 39958775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600530 S 6533 0 1 JMJD7-PLA2G4B,MIR4310,PLA2G4B,SPTBN5 IS41894 dgv2366n71 15 39930204 39995197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904128,nsv904127 M 6533 0 2 EHD4,MIR4310,SPTBN5 IS37646,SP50159 nsv904129 15 39950249 39995197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546870 S 6533 0 1 EHD4,SPTBN5 MS17208 nsv519577 15 40007252 40007368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696930 S 2026 0 1 EHD4 esv273033 15 40034701 40034786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581152 S 7 1 0 Samples from several populations that are part of the HapMap project. EHD4 NA19240 nsv904130 15 40110883 40123310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534742 S 6533 0 1 PLA2G4E MS11726 nsv827307 15 40111245 40111984 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427856 S 31 0 1 PLA2G4E AK8 nsv523658 15 40119908 40120317 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699459 S 2026 1 0 PLA2G4E nsv526982 15 40120076 40120317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703355 S 2026 0 1 PLA2G4E nsv517183 15 40120195 40120317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653951,nssv656566 M 2026 0 2 PLA2G4E nsv471683 15 40121667 40290274 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549633,nssv549632 M 48 1 1 MIR627,PLA2G4D,PLA2G4E,PLA2G4F,TMEM87A,VPS39 NA10493,NA15729 dgv2367n71 15 40131086 40185338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904131,nsv904132 M 6533 0 2 PLA2G4D MS10311,MS17208 nsv832985 15 40158774 40352258 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451925,nssv1451924 M 95 0 2 MIR627,PLA2G4D,PLA2G4F,TMEM87A,VPS39 nsv436201 15 40167556 40174721 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465517 S 2 0 1 Samples from several populations that are part of the HapMap project. PLA2G4D NA18505 nsv457121 15 40183574 40205377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534381 S 1557 0 1 "" NINDS_272 esv26664 15 40190994 40196399 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20493 S 451 0 1 "" NA19190 esv2421487 15 40191008 40194976 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5062821,essv5044848,essv5008801,essv5050655,essv5152216,essv5126924,essv5081859,essv5093845,essv5118209,essv5061514,essv5136605,essv5002363,essv5034159,essv5023138,essv5041085,essv5077910,essv5005694,essv5084512,essv5127878 M 1184 0 19 "" NA18487,NA18853,NA19044,NA19098,NA19190,NA19201,NA19202,NA19308,NA19332,NA19396,NA19397,NA19457,NA19914,NA19915,NA20295,NA20346,NA21301,NA21344,NA21739 nsv442370 15 40191008 40194976 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514778 15 40191400 40194680 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628238 S 1414 0 1 "" esv2557530 15 40193818 40195235 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191472 S 1 0 1 "" NA18507 nsv442371 15 40208707 40221098 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PLA2G4F nsv817689 15 40210382 40218434 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417420 S 112 0 1 "" NA18952 nsv9245 15 40229141 40240864 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27468 S 31 1 0 Samples from several populations that are part of the HapMap project. PLA2G4F,VPS39 NA19221 nsv1507 15 40253835 40285751 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5551 S 9 1 0 MIR627,VPS39 NA19129 nsv827308 15 40314048 40315675 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432421 S 31 1 0 TMEM87A AK20 nsv904133 15 40316274 40468349 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527204 S 6533 1 0 CAPN3,GANC,TMEM87A SP58240 esv1006302 15 40333041 40339890 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564885 S 3 0 1 TMEM87A HuRef nsv827310 15 40352898 40353611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432422 S 31 0 1 TMEM87A AK20 nsv832986 15 40375117 40540956 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451926 S 95 0 1 CAPN3,GANC,ZFP106 nsv832987 15 40414739 40579640 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451927 S 95 1 0 CAPN3,GANC,SNAP23,ZFP106 nsv819827 15 40493723 40494137 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418940 S 2 0 1 ZFP106 AK1 esv22587 15 40508563 40510850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18217 S 451 0 2 ZFP106 NA18861,NA18909 nsv528725 15 40542847 40891698 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705380 S 2026 1 0 CDAN1,HAUS2,LRRC57,SNAP23,STARD9,TTBK2 nsv1508 15 40544143 40578158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4149 S 9 1 0 SNAP23 NA12878 nsv827311 15 40569555 40569996 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433992 S 31 0 1 "" NA18526 nsv513429 15 40636515 40637043 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625829 S 1 1 0 HAUS2 1 esv1090131 15 40636898 40636898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264010 S 2 1 0 HAUS2 HuRef nsv1509 15 40658765 40691872 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7160 S 9 1 0 STARD9 NA12156 nsv457122 15 40736154 40849840 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534382 S 1557 0 1 CDAN1,STARD9,TTBK2 1780854065_A nsv517553 15 40758191 40810774 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663669,nssv678472,nssv697941,nssv692747,nssv684349,nssv652340 M 2026 1 5 CDAN1,STARD9 esv25347 15 40776304 40782362 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15854 S 451 0 1 STARD9 NA18517 esv1651282 15 40791617 40791617 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603974 S 2 1 0 STARD9 HuRef nsv525461 15 40849840 41269419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701589 S 2026 0 1 CCNDBP1,TMEM62,TTBK2,UBR1 nsv904134 15 40884944 41144698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536745 S 6533 1 0 TTBK2,UBR1 MS12943 nsv94744 15 40895355 40895544 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113322 M 24 TTBK2 nsv515876 15 40904198 41232597 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705714,nssv705701,nssv669551,nssv682487,nssv665118,nssv695338,nssv705373,nssv662075 M 2026 6 2 TMEM62,TTBK2,UBR1 nsv904135 15 40931290 41179367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574079 S 6533 0 1 TTBK2,UBR1 IS33507 dgv2368n71 15 41044767 41269419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904139,nsv904144,nsv904136 M 6533 0 4 CCNDBP1,TMEM62,UBR1 IS31187,IS33616,IS33797,IS37065 dgv2369n71 15 41056262 41201965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904142,nsv904145,nsv904143,nsv904140,nsv904141,nsv904137 M 6533 0 10 UBR1 IS30835,IS30923,IS31179,IS31306,IS31564,IS33514,IS35145,IS38057,IS40067,IS40368 nsv904138 15 41056262 41201965 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596713,nssv1569351 M 6533 1 1 UBR1 IS31563,IS40618 nsv904146 15 41081510 41201965 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584754 S 6533 1 0 UBR1 IS37167 nsv904147 15 41096721 41191247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568796 S 6533 0 1 UBR1 IS31338 nsv1511 15 41101131 41133066 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10047 S 9 1 0 UBR1 NA18956 nsv94791 15 41241937 41246047 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113369 M 24 TMEM62 nsv1512 15 41404126 41448938 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7161 S 9 0 1 ADAL,LCMT2,ZSCAN29 NA12156 nsv1513 15 41441660 41476006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2931 S 9 1 0 TUBGCP4,ZSCAN29 NA18555 esv2618501 15 41447014 41448639 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173352 S 1 0 1 ZSCAN29 NA18507 esv2020159 15 41447524 41448259 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948605 S 1 0 1 ZSCAN29 NA18507 esv2430486 15 41447727 41448052 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205646 S 1 0 1 ZSCAN29 NA18507 esv1003756 15 41447730 41448055 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574447 S 3 0 1 ZSCAN29 HuRef esv8406 15 41447739 41448044 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30847 S 1 0 1 ZSCAN29 SJK nsv94676 15 41562269 41565066 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113254 M 24 TP53BP1 nsv437799 15 41571292 41776810 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467680 S 60 0 1 Samples from several populations that are part of the HapMap project. CATSPER2,CKMT1A,CKMT1B,MAP1A,PPIP5K1,STRC,TP53BP1 NA19240 nsv515877 15 41589316 41605344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665119,nssv673893 M 2026 0 2 MAP1A,TP53BP1 nsv518707 15 41589316 41613849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696158 S 2026 0 1 MAP1A,PPIP5K1,TP53BP1 nsv832988 15 41591933 41764154 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451928 S 95 0 1 CATSPER2,CKMT1B,MAP1A,PPIP5K1,STRC nsv428304 15 41610450 41795872 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452734 S 62 0 1 CATSPER2,CKMT1A,CKMT1B,MAP1A,PPIP5K1,STRC NA18498 dgv741e1 15 41610450 41840909 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10531,essv20521,essv23977,essv13561,essv378 M 271 0 0 CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,MAP1A,PDIA3,PPIP5K1,STRC NA12716,NA18971,NA19160,NA19240 dgv742e1 15 41610450 41935933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv641,essv16240,essv1157 M 271 0 0 C15orf63,CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,ELL3,MAP1A,MFAP1,MIR1282,PDIA3,PPIP5K1,SERF2,SERF2-C15ORF63,SERINC4,STRC,WDR76 NA18964,NA19161 nsv827312 15 41614374 41614822 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429412 S 31 1 0 PPIP5K1 AK12 nsv524910 15 41623770 41726934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700922 S 2026 0 1 CATSPER2,CKMT1B,PPIP5K1,STRC dgv2370n71 15 41623770 41748496 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904161,nsv904148,nsv904154 M 6533 6 0 CATSPER2,CKMT1B,PPIP5K1,STRC MS10544,MS20885,SP50521,SP51352,SP53302,SP55829 dgv2371n71 15 41623770 41811255 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904162,nsv904149,nsv904163,nsv904156,nsv904155,nsv904157 M 6533 8 0 CATSPER2,CKMT1A,CKMT1B,PPIP5K1,STRC IS32361,IS34804,IS41319,MS15940,MS16064,MS16347,MS16656,MS19083 dgv2372n71 15 41623770 41840909 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904150,nsv904158 M 6533 2 0 CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,PDIA3,PPIP5K1,STRC IS39243,MS14828 nsv509569 15 41631762 41701149 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623674 S 4 1 0 CKMT1B,PPIP5K1,STRC NA18994 nsv904151 15 41639335 41725580 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509054 S 6533 1 0 CATSPER2,CKMT1B,PPIP5K1,STRC SP54735 dgv2373n71 15 41639335 41728098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904159,nsv904160,nsv904152 M 6533 0 4 CATSPER2,CKMT1B,PPIP5K1,STRC SP50593,SP56120,SP56238,SP80955 nsv904153 15 41639335 41738410 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500130,nssv1503092 M 6533 1 1 CATSPER2,CKMT1B,PPIP5K1,STRC SP50118,SP51485 esv24113 15 41639436 41775933 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13209,esv13634,esv12854,esv19916 M 451 1 3 CATSPER2,CKMT1A,CKMT1B,PPIP5K1,STRC NA07037,NA12004,NA12239,NA19240 nsv514779 15 41641016 41669212 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627155 S 1414 0 0 PPIP5K1 nsv9246 15 41641893 41644495 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24389 S 31 0 1 Samples from several populations that are part of the HapMap project. PPIP5K1 NA18504 nsv1514 15 41646552 41783872 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10048,nssv9307,nssv4151 M 9 0 3 CATSPER2,CKMT1A,CKMT1B,PPIP5K1,STRC NA12878,NA18517,NA18956 nsv9248 15 41649486 41652110 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24536 S 31 0 1 Samples from several populations that are part of the HapMap project. PPIP5K1 NA19240 esv2421427 15 41672410 41775845 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003753,essv5144267,essv5046421,essv5112235,essv5081515,essv5028275,essv5100272,essv5149575,essv5022506,essv5033350,essv5040993,essv5127871,essv5042549,essv5078519,essv5092986,essv5043001,essv5054081,essv5094575,essv5015320,essv5012544,essv5100972,essv5066882,essv5133707,essv5145325,essv5086406,essv5070396 M 1184 0 26 CATSPER2,CKMT1A,CKMT1B,STRC NA11920,NA12716,NA17969,NA18497,NA18498,NA18638,NA18963,NA19067,NA19138,NA19160,NA19161,NA19238,NA19240,NA19398,NA19436,NA19443,NA19449,NA19470,NA19714,NA20279,NA20282,NA20284,NA20770,NA20903,NA21090,NA21356 nsv9249 15 41674664 41680301 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25977,nssv22545 M 31 1 1 Samples from several populations that are part of the HapMap project. CKMT1B,STRC NA18502,NA18537 esv33424 15 41676247 41782515 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94893,essv96474 M 51 0 2 CATSPER2,CKMT1A,CKMT1B,STRC 22231,22261 dgv2374n71 15 41676268 41738410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904168,nsv904164,nsv904165,nsv904167,nsv904166 M 6533 0 8 CATSPER2,CKMT1B,STRC SP52160,SP53349,SP53885,SP54430,SP55212,SP55868,SP57197,SP57640 dgv743e1 15 41676268 41845926 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12070,essv11065,essv7981,essv13953 M 271 0 0 CATSPER2,CATSPER2P1,CKMT1A,CKMT1B,PDIA3,STRC NA19138,NA19160,NA19238,NA19240 nsv442372 15 41680133 41682098 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 STRC nsv9250 15 41680301 41683739 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24562 S 31 0 1 Samples from several populations that are part of the HapMap project. STRC NA19240 nsv433293 15 41682935 41726934 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463174 S 9 0 1 Samples from several populations that are part of the HapMap project. CATSPER2,STRC NA19240 nsv904169 15 41682935 41748496 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507845 S 6533 1 0 CATSPER2,STRC SP54663 dgv2375n71 15 41682935 41803709 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904170,nsv904171 M 6533 2 0 CATSPER2,CKMT1A,STRC SP52172,SP55878 nsv9251 15 41698259 41740212 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24648 S 31 0 1 Samples from several populations that are part of the HapMap project. CATSPER2,STRC NA19240 dgv146n21 15 41701665 41726934 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523204,nsv521299 M 2026 0 2 CATSPER2 nsv817690 15 41701665 41726934 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416974,nssv1416880,nssv1416879 M 112 0 3 CATSPER2 NA19138,NA19238,NA19240 nsv904172 15 41701665 41738410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512671 S 6533 0 1 CATSPER2 SP55571 nsv9252 15 41741444 41744046 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24415 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv9253 15 41749051 41753660 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24674 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv9254 15 41775441 41777402 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22575,nssv21332,nssv25648 M 31 2 1 Samples from several populations that are part of the HapMap project. CKMT1A NA07029,NA18537,NA19132 esv25801 15 41780690 41782899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16618 S 451 0 2 "" NA11993,NA18909 esv33661 15 41803811 41851712 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99919 S 51 0 1 CATSPER2P1,PDIA3 22086 nsv511550 15 41907851 41935434 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626174 S 1 0 1 WDR76 1 nsv9255 15 41923444 41928918 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21813,nssv23571 M 31 2 0 Samples from several populations that are part of the HapMap project. WDR76 NA07048,NA12155 esv27765 15 41923774 41926088 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15871,esv11576,esv14304 M 451 30 1 WDR76 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv512394 15 41924165 41926974 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624983 S 1 0 1 WDR76 1 nsv819016 15 41924495 41926178 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419307 S 2 1 0 WDR76 AK1 nsv820434 15 41924751 41926137 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421122 S 1 0 1 WDR76 NA10851 esv270548 15 41947077 41947162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515981 S 157 1 0 Samples from several populations that are part of the HapMap project. WDR76 NA12873 nsv1515 15 41966316 41982044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4152 S 9 1 0 FRMD5 NA12878 esv1620375 15 42079434 42079434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083535 S 2 1 0 FRMD5 HuRef nsv832989 15 42093761 42249002 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451930,nssv1451929 M 95 1 1 FRMD5 nsv94497 15 42172848 42177610 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113075 M 24 FRMD5 dgv2376n71 15 42178864 42325952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904173,nsv904174,nsv904175 M 6533 0 5 FRMD5 IS31385,IS34400,IS35862,IS36990,MS22858 nsv904176 15 42191280 42367146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535370 S 6533 0 1 FRMD5 MS12188 esv272102 15 42289272 42289584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514641,essv2516656,essv2519289,essv2518724,essv2514872,essv2516607,essv2515775,essv2518119,essv2516165,essv2516907,essv2517307,essv2515228,essv2518927,essv2518278,essv2513678 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11881,NA11894,NA12045,NA12234,NA12814,NA12815,NA12872,NA12891,NA12892,NA18970,NA19238,NA19239,NA19240 esv274081 15 42289272 42289590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580921,essv2579699 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv904177 15 42370178 42609135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598980 S 6533 0 1 CASC4,CTDSPL2 IS41317 nsv904178 15 42397088 42511579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570511 S 6533 0 1 CASC4,CTDSPL2 IS32150 nsv904179 15 42401976 42609135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576013 S 6533 1 0 CASC4,CTDSPL2 IS33857 nsv904180 15 42570992 42607346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505589 S 6533 0 1 CTDSPL2 SP53687 esv2449630 15 42571245 42572945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315825 S 1 0 1 CTDSPL2 NA18507 esv1624618 15 42610816 42610816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258575 S 2 1 0 "" HuRef nsv827313 15 42644648 42650774 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432423 S 31 0 1 SPG11 AK20 nsv1516 15 42683454 42728383 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7162 S 9 0 1 SPG11 NA12156 nsv1517 15 42741826 42777137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1249 S 9 1 0 PATL2,SPG11 NA19240 dgv744e1 15 42756160 43210134 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14507,esv509 M 271 0 0 B2M,C15orf43,DUOX1,DUOX2,DUOXA1,DUOXA2,PATL2,SORD,TRIM69 NA19202 nsv832990 15 42778057 42950006 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451931 S 95 1 0 B2M,TRIM69 nsv819242 15 42846643 42865900 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418677 S 2 0 1 TRIM69 AK1 esv2559786 15 42855490 42857195 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347139 S 1 0 1 "" NA18507 esv2257706 15 42855926 42856575 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580785 S 1 0 1 "" NA18507 nsv457123 15 42861811 42886434 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534383 S 1557 0 1 "" 1780854205_A esv5964 15 42879212 42879277 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28405 S 1 1 0 "" SJK dgv745e1 15 42888144 43170912 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9274,essv13303,essv8700 M 271 0 0 C15orf43,SORD NA19137,NA19200,NA19202 esv34494 15 42893168 43055500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986004,essv6990489,essv6980493 M 771 1 0 C15orf43 NA19202 nsv7264 15 42901686 43201120 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1250,nssv9309 M 9 0 0 C15orf43,DUOX2,DUOXA1,DUOXA2,SORD NA18517,NA19240 esv29051 15 42903243 42905917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18714 S 451 0 2 "" NA15510,NA18909 nsv9256 15 42905218 42906413 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25997,nssv27476,nssv22921,nssv26139,nssv22825,nssv22160,nssv25670 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA12740,NA18502,NA18853,NA18860,NA19132,NA19173,NA19221 nsv436698 15 42905477 43157895 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465518 S 2 0 0 Samples from several populations that are part of the HapMap project. C15orf43,SORD NA18505 esv2033910 15 42907339 42907859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498513 S 1 0 1 "" NA18507 nsv904181 15 42915085 43003635 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503042 S 6533 1 0 "" SP51480 nsv1518 15 42916510 42951638 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9958,nssv10049,nssv5552 M 9 3 0 "" NA18507,NA18956,NA19129 esv2581792 15 42918452 42933445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199538 S 1 0 1 "" NA18507 nsv442373 15 42919079 42933059 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv29699 15 42919090 42933148 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16490 S 451 0 1 "" NA19240 nsv9257 15 42919264 42933373 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24700 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2573192 15 42922244 42932061 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220064 S 1 0 1 "" NA18507 essv7911 15 42922650 42933056 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 essv7982 15 42922650 42980909 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv2377n71 15 42934000 43066538 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904183,nsv904182 M 6533 2 0 C15orf43 IS39243,SP55167 nsv436200 15 42940287 42947569 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465519 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2547760 15 42940878 42947943 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301649 S 1 0 1 "" NA18507 esv25538 15 42941469 42962672 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14867,esv15318 M 451 1 2 "" NA12878,NA18858,NA18907 nsv510396 15 42943890 42949890 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622254 S 4 0 1 "" NA10860 nsv513706 15 42986110 43061721 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626958 S 1 0 0 C15orf43 1 esv26302 15 43011780 43022783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20606 S 451 0 3 "" NA07045,NA12006,NA12489 nsv442374 15 43012549 43021739 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421666 15 43016888 43023645 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5092982,essv5057624,essv5124345,essv5128944,essv5020782,essv5097958,essv5031831,essv5127536,essv5153270,essv5014305,essv5026953,essv5079339,essv5079965,essv5044663,essv5030809,essv5157841,essv5019323,essv5062542,essv5061227,essv5077183,essv5135230,essv5109458,essv5128786,essv5013875,essv5141236,essv5007091,essv5128264,essv5048099,essv5153946,essv5129272,essv5124097,essv5116739,essv5104185,essv5072196,essv5140443 M 1184 0 35 "" NA06984,NA06986,NA07045,NA07357,NA11919,NA12003,NA12006,NA12272,NA12275,NA12489,NA12760,NA12767,NA12778,NA12801,NA12813,NA19347,NA19352,NA19658,NA19659,NA19747,NA19748,NA19773,NA19921,NA20505,NA20525,NA20529,NA20534,NA20539,NA20755,NA20773,NA20783,NA20807,NA20819,NA20862,NA20898 nsv904184 15 43036079 43102056 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503043 S 6533 1 0 C15orf43 SP51480 nsv509570 15 43077474 43136632 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623675 S 4 1 0 SORD NA18994 nsv9259 15 43104660 43113642 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22605,nssv25692,nssv22006,nssv24726,nssv22496,nssv20602,nssv27484,nssv23618,nssv24441,nssv22188,nssv26158,nssv22307,nssv25347,nssv22854,nssv25354 M 31 15 0 Samples from several populations that are part of the HapMap project. SORD NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18860,NA18942,NA18972,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv435n67 15 43106000 43111243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827316,nsv827314,nsv827315,nsv827317 M 31 19 0 SORD AK10,AK12,AK14,AK18,AK2,AK6,AK8,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18942,NA18947,NA18949,NA18972,NA18973,NA18997 nsv827318 15 43106173 43115958 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433993 S 31 1 0 SORD NA18526 nsv820141 15 43106192 43113430 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419812 S 2 1 0 SORD AK1 esv27178 15 43106211 43111066 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20125 S 451 20 0 SORD NA11894,NA12414,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9260 15 43122110 43132241 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24752 S 31 0 1 Samples from several populations that are part of the HapMap project. SORD NA19240 nsv1519 15 43125918 43156734 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10050 S 9 1 0 SORD NA18956 nsv9261 15 43153155 43154348 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27492,nssv26017,nssv26207,nssv25744 M 31 0 4 Samples from several populations that are part of the HapMap project. SORD NA18502,NA18860,NA19132,NA19221 esv28190 15 43153457 43156330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12644 S 451 0 2 SORD NA15510,NA18909 esv268625 15 43170058 43170368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503860,essv2503621 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA12761 nsv9262 15 43174245 43176671 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22950 S 31 1 0 Samples from several populations that are part of the HapMap project. DUOX2 NA12740 dgv2378n71 15 43181698 43221785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904186,nsv904185 M 6533 0 2 DUOX1,DUOX2,DUOXA1,DUOXA2 IS39233,MS18276 esv1002924 15 43199576 43212091 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565646 S 3 0 1 DUOX1,DUOXA1 HuRef nsv457125 15 43208010 43237615 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534384 S 1557 0 1 DUOX1,DUOXA1 1780862456_A nsv518213 15 43209050 43252060 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695638 S 2026 1 0 DUOX1,DUOXA1,SHF nsv520580 15 43225829 43244641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672790,nssv701619,nssv690520,nssv680288,nssv691819 M 2026 0 5 DUOX1 nsv904187 15 43225829 43295030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553089 S 6533 0 1 DUOX1,SHF MS19721 esv22315 15 43307065 43308832 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18689 S 451 0 2 "" NA19129,NA19147 esv2282019 15 43357134 43357690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851893 S 1 0 1 "" NA18507 esv270513 15 43357182 43357516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514075,essv2515361,essv2515106,essv2515615,essv2518111,essv2516034,essv2514344,essv2517873,essv2514005,essv2518203 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12249,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA19143,NA19240 esv274216 15 43357182 43357516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581474,essv2581128 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1530195 15 43357215 43357215 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137612 S 2 1 0 "" HuRef esv1598823 15 43357348 43357494 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201693 S 2 0 1 "" HuRef nsv469721 15 43396173 43575294 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649742 M 265 0 0 Samples from several populations that are part of the HapMap project. C15orf48,GATM,LOC145663,MIR147B,SLC30A4,SPATA5L1 nsv1520 15 43433515 43467269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7163,nssv2932 M 9 2 0 GATM,LOC145663 NA12156,NA18555 esv991241 15 43439021 43440236 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586670 S 3 1 0 "" HuRef nsv442701 15 43524388 43536044 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv1523 15 43537192 43571117 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7164 S 9 0 1 SLC30A4 NA12156 nsv519435 15 43564636 43566300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696852 S 2026 0 1 SLC30A4 nsv904188 15 43588327 43728981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571823 S 6533 1 0 HMGN2P46,PLDN,SLC30A4,SQRDL IS32822 dgv2379n71 15 43608450 44169166 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904191,nsv904189 M 6533 2 0 HMGN2P46,PLDN,SQRDL IS39716,MS23670 nsv904190 15 43679964 43748189 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578908 S 6533 1 0 PLDN,SQRDL IS34962 nsv526945 15 43723047 43728981 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703315 S 2026 1 0 SQRDL esv274920 15 43764652 43767826 CNV Complex Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585494 S 1250 0 0 SQRDL esv23356 15 43769884 43770349 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17719 S 451 1 0 SQRDL NA12044 esv996233 15 43776221 43777919 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565647 S 3 1 0 "" HuRef nsv523136 15 43778072 43945699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698841 S 2026 0 1 "" nsv519033 15 43799412 43799987 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696502 S 2026 1 0 "" nsv1524 15 43817778 43848313 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7166 S 9 0 1 "" NA12156 nsv904192 15 43839682 44053780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550618 S 6533 0 1 "" MS18487 esv2464467 15 43854692 43856223 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165255 S 1 0 1 "" NA18507 esv2360775 15 43855063 43855804 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810498 S 1 0 1 "" NA18507 esv3979 15 43855198 43855686 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26420 S 1 0 1 Single Asian sample YH "" YH nsv94913 15 43855257 43855606 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113491 M 24 "" esv1769178 15 43855272 43855622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729008 S 2 0 1 "" HuRef esv24146 15 43889881 43905396 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19443 S 451 1 0 "" NA12878 esv270649 15 43913239 43913598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516944,essv2514051,essv2514833,essv2515387,essv2516471,essv2515571,essv2516134,essv2517554 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12043,NA12234,NA12249,NA12814,NA12815,NA12873,NA12878 esv272712 15 43913239 43913598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581394 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1476750 15 43913298 43913298 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044103 S 2 1 0 "" HuRef nsv519075 15 43945699 44057854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696547 S 2026 0 1 "" nsv457126 15 43945699 44072202 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534385 S 1557 0 1 "" 1787431198_A esv29134 15 43950462 43959884 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14930 S 451 1 0 "" NA12878 esv1480133 15 43971708 43971799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167224 S 2 0 1 "" HuRef esv22843 15 44022575 44023131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13365 S 451 0 1 "" NA19099 nsv527235 15 44023757 44051085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703635 S 2026 0 1 "" esv2602865 15 44041860 44045582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323005 S 1 0 1 "" NA18507 esv2265015 15 44042164 44044965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750213 S 1 0 1 "" NA18507 esv24541 15 44042306 44044781 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18168 S 451 0 6 "" NA18502,NA18861,NA19099,NA19129,NA19190,NA19257 nsv832991 15 44183180 44367644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451932 S 95 0 1 "" esv2548727 15 44195650 44197136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237651 S 1 0 1 "" NA18507 nsv827319 15 44419561 44420054 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432424 S 31 1 0 "" AK20 nsv904193 15 44445685 44624037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597492 S 6533 0 1 MIR548A3 IS40815 dgv2380n71 15 44629062 44671528 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904194,nsv904196,nsv904195,nsv904197 M 6533 0 7 MIR548A3 SP52017,SP52094,SP52612,SP53288,SP55747,SP81417,SP81481 nsv522187 15 44632813 44734153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694960 S 2026 0 1 MIR548A3 esv991093 15 44647821 44648397 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586955 S 3 1 0 MIR548A3 HuRef nsv821610 15 44647821 44648397 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421123 S 1 0 1 MIR548A3 NA10851 nsv827321 15 44647821 44648397 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425334,nssv1428653,nssv1423763,nssv1432425,nssv1429414,nssv1431652,nssv1430159,nssv1427858,nssv1436181,nssv1430925 M 31 7 3 MIR548A3 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK8,NA18566,NA18999 nsv820255 15 44647848 44648545 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419061 S 2 1 0 MIR548A3 AK1 esv3061 15 44647962 44648509 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25502 S 1 0 1 Single Asian sample YH MIR548A3 YH esv7522 15 44648000 44648511 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29963 S 1 0 1 MIR548A3 SJK nsv827322 15 44753633 44755148 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432426 S 31 1 0 MIR548A3 AK20 nsv832992 15 44800077 44954199 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451933 S 95 0 1 MIR548A3 nsv457127 15 44881142 44931678 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534386 S 1557 0 1 MIR548A3 1780854449_A nsv904198 15 44892592 44947919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554531 S 6533 0 1 MIR548A3 MS20850 nsv832994 15 44958531 45108602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451934 S 95 0 1 MIR548A3,MIR548U nsv457128 15 44983658 45067947 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534387 S 1557 0 1 MIR548A3,MIR548U 1780862530_A nsv516821 15 45022956 45033943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671189,nssv689419 M 2026 0 2 MIR548A3 esv259512 15 45023671 45023933 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394116 S 6 0 0 Samples from several populations that are part of the HapMap project. MIR548A3 NA12878 nsv832995 15 45033185 45226668 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451935 S 95 1 0 MIR548A3,MIR548U nsv95007 15 45093927 45093927 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113585 M 24 "" nsv904199 15 45118278 45214249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564712 S 6533 0 1 "" IS30288 nsv819752 15 45140799 45182235 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418877 S 2 1 0 "" AK1 esv28139 15 45148821 45183847 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10029 S 451 2 0 "" NA12239,NA18858 nsv827323 15 45156888 45162540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423765 S 31 1 0 "" NA18999 esv1386391 15 45212095 45212181 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684410 S 2 0 1 "" HuRef dgv2381n71 15 45235314 45437398 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904201,nsv904200 M 6533 0 2 SEMA6D IS34440,IS40657 nsv1525 15 45251131 45269256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9514 S 9 1 0 SEMA6D NA18507 nsv519284 15 45252991 45260460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696765 S 2026 0 1 "" esv33210 15 45264821 45391601 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99532 S 51 1 0 SEMA6D 22335 nsv1526 15 45275174 45301774 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5555,nssv6631 M 9 2 0 SEMA6D NA12156,NA19129 nsv510875 15 45292641 45301298 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621634 S 4 0 0 SEMA6D NA15510 esv993814 15 45292687 45294620 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565266 S 3 1 0 SEMA6D HuRef esv270936 15 45294603 45300689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576111,essv2546449,essv2526102,essv2522993,essv2568232,essv2545391,essv2523117,essv2577350,essv2570595,essv2521855,essv2576579,essv2525266,essv2535217,essv2554000,essv2552206,essv2529209,essv2558532,essv2559500,essv2565313,essv2576147,essv2564048,essv2555090,essv2562103,essv2528546,essv2546874,essv2530487,essv2540167,essv2520986,essv2556900,essv2552656,essv2532178,essv2569580,essv2578549,essv2536910,essv2539083,essv2527232,essv2561355,essv2562948,essv2559953,essv2567703,essv2570105,essv2572205,essv2566791,essv2542080,essv2551134,essv2569175,essv2543467,essv2556440,essv2527768,essv2562352,essv2539399,essv2534131,essv2529542,essv2575532,essv2575212,essv2538475,essv2526479,essv2523955,essv2574826,essv2530207,essv2568476,essv2545045,essv2560422,essv2548121,essv2549882,essv2571303,essv2545914,essv2574201,essv2551358,essv2548717,essv2554417 M 157 71 0 Samples from several populations that are part of the HapMap project. SEMA6D NA07037,NA07346,NA11830,NA11881,NA11918,NA11931,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12287,NA12489,NA12749,NA12750,NA12776,NA12812,NA12814,NA12828,NA12872,NA12874,NA12891,NA12892,NA18486,NA18489,NA18498,NA18501,NA18502,NA18505,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18532,NA18570,NA18577,NA18593,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272217 15 45294603 45300692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582755,essv2582831,essv2583989,essv2584710,essv2583635 M 7 5 0 Samples from several populations that are part of the HapMap project. SEMA6D NA12891,NA12892,NA19238,NA19239,NA19240 esv29723 15 45302698 45309094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10778 S 451 0 1 SEMA6D NA12004 esv1571390 15 45358592 45358592 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235501 S 2 1 0 SEMA6D HuRef nsv457129 15 45381026 45438654 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534388 S 1557 0 1 SEMA6D 1782681096_A esv271015 15 45424668 45424753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518692 S 157 1 0 Samples from several populations that are part of the HapMap project. SEMA6D NA12045 esv2032789 15 45507737 45508288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644291 S 1 0 1 SEMA6D NA18507 esv2893 15 45507871 45508221 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25334 S 1 0 1 Single Asian sample YH SEMA6D YH esv1010172 15 45507925 45508098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574510 S 3 0 1 SEMA6D HuRef nsv904202 15 45519791 45812214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557209 S 6533 0 1 SEMA6D MS22494 esv267542 15 45549861 45550067 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504304,essv2503052,essv2506219,essv2501041,essv2501304,essv2504747,essv2499695 M 157 7 0 Samples from several populations that are part of the HapMap project. SEMA6D NA18505,NA18507,NA18523,NA18856,NA19093,NA19099,NA19225 nsv832996 15 45626014 45768850 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451936 S 95 0 1 SEMA6D nsv457131 15 45866357 45994758 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534390 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00148 nsv457132 15 45894213 46137615 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534391 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00741 nsv832997 15 45913031 46124086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451937 S 95 1 0 "" nsv522222 15 45933200 45944815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694999 S 2026 0 1 "" nsv517293 15 45944335 45944815 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698919,nssv680815,nssv662641,nssv678864,nssv663300,nssv686202,nssv673533,nssv680289,nssv682018,nssv661465,nssv654588,nssv655234,nssv670451,nssv681666,nssv679356,nssv658838,nssv658442,nssv685399,nssv657441,nssv672656,nssv661559,nssv689840,nssv688788,nssv678414,nssv673252,nssv680200,nssv651702,nssv684501,nssv675145,nssv658804,nssv688742,nssv660245,nssv673219,nssv667465,nssv673125,nssv686869,nssv680910,nssv677236,nssv682434,nssv654225,nssv687739,nssv675667,nssv657095,nssv658065,nssv660469,nssv693982,nssv690179,nssv688003,nssv655629,nssv688481,nssv672675,nssv668268,nssv673446,nssv651967,nssv655752,nssv691649,nssv691820,nssv658046,nssv652214,nssv681404,nssv684473,nssv681356,nssv688066,nssv683223,nssv688810,nssv667707 M 2026 1 65 "" nsv525339 15 45967189 45971609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701457 S 2026 0 1 "" nsv832998 15 45970190 46084095 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451939,nssv1451938 M 95 2 0 "" nsv524911 15 45993560 45999227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700923 S 2026 0 1 "" dgv436n67 15 45994431 46002629 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827327,nsv827328,nsv827324,nsv827325,nsv827326 M 31 0 5 "" AK14,AK2,AK20,NA18564,NA18999 nsv817691 15 45994758 45999227 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417471 S 112 0 1 "" NA18960 esv2421653 15 45994758 46001995 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5036569,essv5044128,essv5054058,essv5035741,essv5130301,essv5086506,essv5122099,essv5058578,essv5088350,essv5091115,essv5096615,essv5110603,essv5111867,essv5141865,essv5154484,essv5093224,essv5159512,essv5116519,essv5119582,essv5065950,essv5150391,essv5054264,essv5082362,essv5019012,essv5121763,essv5088491,essv5059406,essv5096584,essv5110866,essv5036353,essv5031189,essv5059223,essv5005368,essv5009138,essv5023092,essv5030579,essv5057958,essv5047508,essv5161076,essv5076705,essv5113850,essv5112737,essv5009336,essv5157196,essv5138006,essv5014891,essv5043933,essv5136898 M 1184 0 48 "" NA17966,NA17972,NA17982,NA17983,NA17996,NA18105,NA18109,NA18120,NA18122,NA18125,NA18127,NA18132,NA18134,NA18147,NA18149,NA18150,NA18154,NA18524,NA18534,NA18562,NA18564,NA18579,NA18605,NA18611,NA18612,NA18618,NA18619,NA18621,NA18623,NA18632,NA18636,NA18642,NA18643,NA18647,NA18757,NA18948,NA18955,NA18960,NA18974,NA18999,NA19056,NA19063,NA19068,NA19075,NA19087,NA19726,NA19789,NA19790 nsv514780 15 45995512 46000612 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628239 S 1414 0 1 "" nsv442702 15 45995539 46001995 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv832999 15 46039586 46239697 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451940 S 95 1 0 MYEF2,SLC24A5 esv26206 15 46048000 46053800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19465 S 451 0 2 "" NA18502,NA18916 esv24952 15 46127863 46130551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20424 S 451 0 1 "" NA18861 dgv746e1 15 46296330 46451070 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv376,essv4844 M 271 0 0 DUT,SLC12A1 NA18540 nsv526690 15 46307882 46309208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703025 S 2026 0 1 SLC12A1 nsv522923 15 46307882 46317232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698584 S 2026 0 1 SLC12A1 nsv904203 15 46329622 46363530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519778 S 6533 1 0 SLC12A1 SP50544 esv2474615 15 46337352 46338982 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297732 S 1 0 1 SLC12A1 NA18507 esv2617587 15 46337562 46337881 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286105 S 1 0 1 SLC12A1 NA18507 esv7684 15 46337565 46337881 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30125 S 1 0 1 SLC12A1 SJK nsv521395 15 46463166 46465377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698005 S 2026 0 1 "" nsv524644 15 46464675 46465377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700610 S 2026 0 1 "" nsv817692 15 46481503 46488520 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416804 S 112 0 1 FBN1 NA19159 esv269240 15 46527679 46528000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2566714,essv2542204,essv2543446,essv2562280,essv2530416 M 157 5 0 Samples from several populations that are part of the HapMap project. FBN1 NA18853,NA18856,NA18870,NA18909,NA19141 nsv94450 15 46531586 46536922 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113028 M 24 FBN1 nsv833000 15 46619424 46760282 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451942,nssv1451941 M 95 2 0 FBN1 nsv827329 15 46723552 46727912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432428 S 31 0 1 FBN1 AK20 nsv510397 15 46797545 46803545 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621423 S 4 0 1 "" NA15510 nsv833001 15 46830935 46992057 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451943,nssv1451944 M 95 2 0 CEP152,EID1,SHC4 esv270490 15 46942532 46942617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514155,essv2518739,essv2515262,essv2518326 M 157 4 0 Samples from several populations that are part of the HapMap project. SHC4 NA12043,NA12045,NA19238,NA19240 esv274434 15 46942542 46942760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579919,essv2580984,essv2578972 M 7 3 0 Samples from several populations that are part of the HapMap project. SHC4 NA12892,NA19238,NA19239 nsv827330 15 46971470 46975021 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429752,nssv1423767 M 31 0 2 SHC4 NA18968,NA18999 nsv1527 15 47140948 47170152 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10051 S 9 1 0 "" NA18956 nsv827332 15 47235018 47235468 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432429 S 31 0 1 COPS2,GALK2 AK20 esv22168 15 47332068 47335163 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17257 S 451 0 9 GALK2 NA11993,NA11995,NA12004,NA12044,NA12287,NA12776,NA18909,NA18916,NA19240 esv269481 15 47396859 47397198 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514597,essv2518636,essv2518361 M 157 3 0 Samples from several populations that are part of the HapMap project. GALK2 NA11840,NA12287,NA19240 esv272719 15 47396859 47397198 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581137 S 7 1 0 Samples from several populations that are part of the HapMap project. GALK2 NA19240 nsv833002 15 47408692 47569091 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451945 S 95 1 0 C15orf33,FGF7,GALK2 nsv442375 15 47439816 47471374 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C15orf33 nsv819023 15 47504264 47504719 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418960 S 2 0 1 C15orf33,FGF7 AK1 nsv9263 15 47521727 47596757 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22337 S 31 1 0 Samples from several populations that are part of the HapMap project. C15orf33,FGF7 NA18563 nsv526246 15 47525525 47537027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702518 S 2026 0 1 C15orf33,FGF7 esv27180 15 47555168 47569544 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13246 S 451 0 1 C15orf33,FGF7 NA07037 nsv827333 15 47835017 47835477 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437032 S 31 0 1 "" NA18542 nsv1528 15 47855250 47900250 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7167 S 9 0 1 "" NA12156 esv22997 15 47874018 47878616 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16742 S 451 1 0 "" NA19108 nsv833003 15 47887664 48060601 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451946 S 95 0 1 ATP8B4 esv2196763 15 47940354 47940789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590106 S 1 0 1 ATP8B4 NA18507 nsv1529 15 47965957 47998461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10052 S 9 1 0 ATP8B4 NA18956 nsv517014 15 47984948 47985098 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668404,nssv653617,nssv689334,nssv667248,nssv675108,nssv664524,nssv661676,nssv653303 M 2026 0 8 ATP8B4 dgv2382n71 15 48010989 48074273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904204,nsv904205 M 6533 0 2 ATP8B4 IS34805,MS15364 nsv904206 15 48022455 48062303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499384 S 6533 0 1 ATP8B4 SP50649 nsv457133 15 48022455 48062348 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534392 S 1557 0 1 ATP8B4 1780862001_A nsv904207 15 48077587 48140237 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522620 S 6533 1 0 ATP8B4 SP53288 nsv1530 15 48089816 48134908 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7168 S 9 0 1 ATP8B4 NA12156 nsv529006 15 48192467 48192536 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705715 S 2026 1 0 ATP8B4 nsv904208 15 48215787 48245150 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522621 S 6533 1 0 "" SP53288 nsv904209 15 48232116 48269425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510095 S 6533 0 1 SLC27A2 SP54956 dgv147n21 15 48256251 48256580 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525505,nsv526926 M 2026 0 2 "" nsv1531 15 48305297 48336567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6632 S 9 1 0 HDC,SLC27A2 NA12156 nsv507779 15 48308483 48314483 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619145 S 4 1 0 SLC27A2 NA10860 nsv819649 15 48369131 48371385 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419410 S 2 0 1 GABPB1 AK1 esv275353 15 48398685 48402790 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585972 S 1250 0 1 GABPB1 esv2087264 15 48420215 48420629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4896768 S 1 0 1 GABPB1 NA18507 nsv524613 15 48443741 48656071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700574 S 2026 0 1 TRPM7,USP50,USP8 nsv827334 15 48476850 48477735 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440665,nssv1439973 M 31 0 2 "" NA18537,NA18564 nsv904210 15 48489350 48573316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507529 S 6533 0 1 USP8 SP54579 esv1049679 15 48524799 48525105 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613629 S 2 0 1 USP8 HuRef nsv471242 15 48558160 48971875 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545727,nssv545728 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPPL2A,TRPM7,USP50,USP8 HGDP00614,HGDP00615 dgv317n27 15 48558160 48976999 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457134,nsv457135 M 1557 2 0 SPPL2A,TRPM7,USP50,USP8 HGDP00614,HGDP00615 esv2416237 15 48574590 48575007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815740 S 1 0 1 USP8 NA18507 esv1047910 15 48574789 48574847 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622897 S 2 0 1 USP8 HuRef esv994715 15 48574789 48574847 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568558 S 3 0 1 USP8 HuRef esv1392000 15 48643754 48643754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174029 S 2 1 0 TRPM7 HuRef nsv904211 15 48662256 48697732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515412 S 6533 0 1 TRPM7 SP56185 nsv1532 15 48715912 48746543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10053 S 9 1 0 TRPM7 NA18956 nsv524596 15 48731881 48734053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700557 S 2026 0 1 TRPM7 nsv904212 15 48767030 48919462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505227 S 6533 1 0 SPPL2A SP53330 nsv904213 15 48798694 48907023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516486 S 6533 0 1 SPPL2A SP56846 nsv457137 15 48806409 48904816 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534395 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPPL2A HGDP00977 esv2609237 15 48831334 48832914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200397 S 1 0 1 SPPL2A NA18507 esv24729 15 48860167 48873509 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15453 S 451 1 0 "" NA12828 nsv516168 15 48901729 49004653 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666589,nssv692579 M 2026 2 0 AP4E1 esv1242352 15 48913485 48913485 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323354 S 2 1 0 "" HuRef esv1001010 15 48956967 48956967 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572376 S 3 1 0 "" HuRef nsv95030 15 48956969 48956969 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113608 M 24 "" nsv507780 15 48968993 48974993 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623186,nssv620583,nssv617898,nssv619146 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv513430 15 48976243 48976840 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625830 S 1 1 0 "" 1 nsv904214 15 48991656 49322484 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505228 S 6533 1 0 AP4E1,CYP19A1,LOC100132724,MIR4713,TNFAIP8L3 SP53330 esv2452631 15 49009131 49010036 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316212 S 1 1 0 AP4E1 NA18507 esv271761 15 49014795 49016505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494381,essv2503020,essv2504651,essv2506881 M 157 4 0 Samples from several populations that are part of the HapMap project. AP4E1 NA18502,NA18507,NA19099,NA19102 esv34532 15 49063420 49540148 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978321,essv6986593,essv6986594,essv6978323,essv6978322 M 771 1 0 AP4E1,CYP19A1,DMXL2,GLDN,MIR4713,TNFAIP8L3 NA19000 dgv747e1 15 49069549 49617631 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv880,esv593,essv2770 M 271 0 0 AP4E1,CYP19A1,DMXL2,GLDN,MIR4713,TNFAIP8L3 NA19000 nsv9264 15 49072014 49079553 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25766 S 31 0 1 Samples from several populations that are part of the HapMap project. AP4E1 NA19132 esv33352 15 49090339 49104954 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100087 S 51 0 1 "" 22086 esv269678 15 49097062 49097398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514510,essv2516642,essv2516540 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12814 nsv471243 15 49132777 49805388 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545729 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP19A1,DMXL2,GLDN,LYSMD2,MIR4713,SCG3,TNFAIP8L3 HGDP01381 nsv1534 15 49195972 49230090 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7169 S 9 1 0 "" NA12156 esv25817 15 49306193 49307246 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16746 S 451 0 1 CYP19A1 NA19225 nsv904215 15 49329485 49460417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505229 S 6533 1 0 CYP19A1,GLDN SP53330 esv2433892 15 49372975 49374690 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319683 S 1 0 1 CYP19A1 NA18507 esv1648684 15 49374126 49374126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637396 S 2 1 0 CYP19A1 HuRef nsv9265 15 49406890 49410523 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20029,nssv22526 M 31 0 2 Samples from several populations that are part of the HapMap project. CYP19A1 NA18572,NA19007 nsv904216 15 49418771 49527100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526570 S 6533 0 1 GLDN SP57662 nsv94788 15 49472210 49472210 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113366 M 24 GLDN nsv904217 15 49482945 49669272 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539125 S 6533 1 0 DMXL2,GLDN MS14209 esv22546 15 49492760 49522317 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13368 S 451 1 0 "" NA12878 nsv904218 15 49530478 49660699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578690 S 6533 0 1 DMXL2 IS34856 nsv457138 15 49626011 49677574 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534396 S 1557 0 1 DMXL2 NINDS_223 nsv1535 15 49629184 49663068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2933,nssv5556 M 9 2 0 DMXL2 NA18555,NA19129 esv272387 15 49631071 49637152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580439,essv2579837,essv2580732,essv2579071,essv2579471 M 7 5 0 Samples from several populations that are part of the HapMap project. DMXL2 NA12891,NA12892,NA19238,NA19239,NA19240 nsv904219 15 49639291 49764451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557791 S 6533 0 1 DMXL2,SCG3 MS22863 nsv457139 15 49642010 49764451 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534397 S 1557 0 1 DMXL2,SCG3 NINDS_219 esv270281 15 49655950 49656300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504512,essv2511262 M 157 2 0 Samples from several populations that are part of the HapMap project. DMXL2 NA18563,NA18570 esv3699 15 49684950 49685608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26140 S 1 0 1 Single Asian sample YH DMXL2 YH nsv94648 15 49684994 49685332 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113226 M 24 DMXL2 esv270503 15 49778243 49778595 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499866,essv2494438,essv2512732,essv2496057,essv2505426 M 157 5 0 Samples from several populations that are part of the HapMap project. SCG3 NA18562,NA18572,NA18577,NA18603,NA18952 esv270156 15 49971167 49971445 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511435,essv2500062,essv2508099,essv2512890,essv2502463,essv2495958 M 157 6 0 Samples from several populations that are part of the HapMap project. TMOD3 NA11920,NA18558,NA18579,NA18609,NA18948,NA18961 nsv513431 15 50051328 50052288 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625831 S 1 1 0 "" 1 esv26982 15 50052548 50060663 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15501 S 451 0 1 "" NA12006 nsv442376 15 50053027 50060576 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514781 15 50053032 50060600 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628240 S 1414 0 1 "" nsv517399 15 50054170 50092756 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676280,nssv674586,nssv656472,nssv657558,nssv690284,nssv663778,nssv656162,nssv689841,nssv676006,nssv652168,nssv688482,nssv702403,nssv654690,nssv678456,nssv678240,nssv692512,nssv662423,nssv698150,nssv654804,nssv678390,nssv681736,nssv683432,nssv693405,nssv682435,nssv658594,nssv651906,nssv678772,nssv657809,nssv687192,nssv666613,nssv673159,nssv662680,nssv658637,nssv660055,nssv667497 M 2026 0 35 "" nsv510398 15 50055993 50061993 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621424 S 4 0 1 "" NA15510 nsv1536 15 50063585 50108211 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7170 S 9 0 1 MAPK6 NA12156 nsv471244 15 50092755 50298757 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545730 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BCL2L10,GNB5,MAPK6,MYO5C HGDP01381 esv2351837 15 50142823 50143268 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730090 S 1 0 1 MAPK6 NA18507 esv7122 15 50175692 50176955 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29563 S 1 0 1 "" SJK nsv833005 15 50177161 50328622 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451947 S 95 1 0 BCL2L10,GNB5,MYO5C esv1257740 15 50196592 50196592 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029713 S 2 1 0 "" HuRef esv2571437 15 50216758 50218211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193808 S 1 0 1 GNB5 NA18507 nsv904220 15 50272316 50313799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554309 S 6533 0 1 MYO5C MS20717 nsv1537 15 50289538 50324359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7171 S 9 0 1 MYO5C NA12156 esv2637818 15 50312012 50313641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368020 S 1 0 1 MYO5C NA18507 esv2403082 15 50312287 50313008 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782600 S 1 0 1 MYO5C NA18507 esv999998 15 50312477 50312809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574069 S 3 0 1 MYO5C HuRef esv7451 15 50312485 50312830 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29892 S 1 0 1 MYO5C SJK esv1288276 15 50312486 50312819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112443 S 2 0 1 MYO5C HuRef nsv819139 15 50390956 50393058 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419384 S 2 0 1 MYO5A AK1 nsv471245 15 50394554 50974457 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545731 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARPP19,KIAA1370,MYO5A,ONECUT1 HGDP01381 esv273448 15 50436243 50436410 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580577,essv2579812 M 7 2 0 Samples from several populations that are part of the HapMap project. MYO5A NA19238,NA19240 esv272006 15 50436275 50436582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510659,essv2509842,essv2496354,essv2496259,essv2506123,essv2512976,essv2507553,essv2505204,essv2507237,essv2501259,essv2504710,essv2499159,essv2510857,essv2497712,essv2512193,essv2498145,essv2502099 M 157 17 0 Samples from several populations that are part of the HapMap project. MYO5A NA18501,NA18508,NA18510,NA18511,NA18523,NA18547,NA18638,NA18853,NA18870,NA19093,NA19099,NA19114,NA19116,NA19147,NA19238,NA19240,NA19257 nsv507781 15 50567336 50573336 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620584 S 4 1 0 MYO5A NA15510 esv259982 15 50603357 50604449 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398641,essv2396084,essv2398791,essv2396737,essv2396034,essv2400746,essv2399227,essv2398552,essv2396056,essv2400688,essv2400358,essv2397425,essv2399851,essv2395537,essv2399940 M 144 0 0 Samples from several populations that are part of the HapMap project. MYO5A NA06986,NA07346,NA07347,NA11831,NA12003,NA12717,NA18508,NA18516,NA18537,NA18542,NA18555,NA18566,NA18573,NA18593,NA18856 esv4732 15 50603530 50604282 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27173 S 1 0 0 Single Asian sample YH MYO5A YH nsv833006 15 50613246 50827754 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451948 S 95 1 0 ARPP19,KIAA1370 esv1001541 15 50626634 50631148 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586133 S 3 1 0 ARPP19 HuRef esv1977718 15 50676484 50676905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598057 S 1 0 1 KIAA1370 NA18507 nsv457140 15 50688725 50756038 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534398 S 1557 0 1 KIAA1370 1780854103_A nsv515534 15 50785554 50812984 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673845,nssv663850 M 2026 2 0 "" nsv514782 15 50813516 50815056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627156 S 1414 0 0 "" nsv457142 15 50829179 50879188 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534400 S 1557 1 0 ONECUT1 NINDS_54 nsv1538 15 50898077 50935372 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7172 S 9 0 1 "" NA12156 esv275198 15 50902002 50910297 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585757,essv2586003 M 1250 1 1 "" esv2579232 15 51018278 51019515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358881 S 1 0 1 "" NA18507 esv2318199 15 51018549 51018996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736479 S 1 0 1 "" NA18507 nsv833007 15 51051856 51240817 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451949 S 95 0 1 "" nsv904221 15 51066670 51221657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529536 S 6533 0 1 "" SP81571 nsv904222 15 51103779 51171992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559642 S 6533 0 1 "" MS24073 esv994129 15 51112661 51115499 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563953 S 3 0 1 "" HuRef esv1001718 15 51189614 51189615 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575219 S 3 1 0 "" HuRef esv1312874 15 51196946 51197022 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261158 S 2 0 1 "" HuRef esv268093 15 51240886 51241001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575939,essv2521057,essv2523072,essv2545678,essv2521601,essv2558400,essv2565448,essv2530876,essv2544722,essv2534724,essv2539634,essv2522305,essv2567518,essv2543522,essv2562254,essv2527492,essv2575095,essv2538538,essv2524123,essv2568678,essv2549867,essv2536228,essv2549068,essv2532933,essv2554709,essv2525050 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07357,NA11830,NA11894,NA11931,NA12003,NA12144,NA12750,NA12812,NA12873,NA18526,NA18561,NA18563,NA18571,NA18582,NA18870,NA18909,NA18952,NA19102,NA19108,NA19129,NA19147,NA19225 nsv1539 15 51270162 51306051 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5557,nssv1251 M 9 2 0 "" NA19129,NA19240 esv26065 15 51301983 51303038 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16705 S 451 1 0 "" NA18861 nsv510399 15 51361914 51367914 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624170,nssv618411,nssv622255,nssv621425 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv457143 15 51362944 51390980 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534401 S 1557 0 1 "" 1782681112_A nsv833008 15 51417763 51567910 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451950 S 95 0 1 "" dgv2383n71 15 51452539 52127362 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904224,nsv904223 M 6533 2 0 UNC13C,WDR72 MS15780,MS18143 esv29700 15 51465936 51467074 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20320,esv11855 M 451 3 0 "" NA11894,NA19129,NA19190 esv275223 15 51469660 51470595 CNV Complex Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585656 S 1250 0 0 "" nsv833009 15 51540193 51722595 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451951 S 95 1 0 WDR72 esv2280740 15 51549586 51550008 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965835 S 1 0 1 "" NA18507 nsv519399 15 51550652 51573583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696833 S 2026 0 1 "" dgv748e1 15 51557013 51572775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1042,essv2397 M 271 0 0 "" NA18976 esv2421769 15 51572283 51572775 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024763,essv5061605,essv5134391,essv5029631,essv5140584,essv5020734,essv5157706,essv5045128,essv5041919,essv5021334,essv5144548,essv5084392,essv5043733,essv5160390,essv5160540,essv5119433,essv5017981,essv5070473,essv5159152,essv5089367,essv5054185,essv5055347,essv5100682,essv5136584,essv5053207,essv5150214,essv5049068,essv5076490,essv5038944,essv5072000,essv5114093,essv5037706,essv5113816,essv5091892,essv5152291,essv5141070,essv5085029,essv5097842,essv5031573,essv5014346,essv5077693,essv5019936,essv5054436,essv5107785,essv5025898,essv5119595,essv5133599,essv5155477,essv5099141,essv5104959,essv5047887,essv5074744,essv5004431,essv5114310,essv5119799,essv5072200,essv5059492,essv5072128,essv5097518,essv5150265,essv5119579,essv5149680,essv5033935,essv5087516,essv5055396,essv5072700,essv5123354,essv5130634,essv5014292,essv5007971,essv5095327,essv5016752,essv5011598,essv5038825,essv5160713,essv5123170,essv5034595,essv5069700,essv5082186,essv5012151,essv5006966,essv5022996,essv5097094,essv5093383,essv5011275,essv5074616,essv5133042,essv5138829,essv5151852,essv5104092,essv5063605,essv5041995,essv5113741,essv5045828,essv5013212,essv5148830,essv5027819,essv5030653,essv5081858,essv5006465,essv5051288,essv5148337,essv5048768,essv5047242,essv5065824,essv5061461,essv5012989,essv5035292,essv5070597,essv5053900,essv5123018,essv5038884,essv5018283,essv5064846,essv5073219,essv5029031,essv5098051,essv5055227,essv5097287,essv5078554,essv5065627,essv5037576,essv5088094,essv5033815,essv5129365,essv5083553,essv5142632,essv5108616,essv5067379,essv5098601,essv5107244,essv5142320,essv5135021,essv5088312,essv5059222,essv5071698,essv5092920,essv5071726,essv5117522,essv5063409,essv5028108,essv5157898,essv5059908,essv5003141,essv5098864,essv5120535,essv5062990,essv5122460,essv5081326,essv5098512,essv5155007,essv5102750,essv5063511,essv5076546,essv5064175,essv5093082,essv5122609,essv5024068,essv5117874,essv5074468,essv5013108,essv5008407,essv5107722,essv5052307,essv5111891,essv5079174,essv5049887,essv5132658,essv5082859,essv5139700,essv5118512,essv5067645,essv5047999,essv5110651,essv5004170,essv5060197,essv5114449,essv5080074,essv5058960,essv5083544,essv5106395,essv5013568,essv5123668,essv5052736,essv5021514,essv5150761,essv5150914,essv5144123,essv5009996,essv5116749,essv5133142,essv5127797,essv5103019,essv5157304,essv5032230,essv5008160,essv5011879,essv5059262,essv5093761,essv5082258,essv5080470,essv5132796,essv5140434,essv5028887,essv5008679,essv5046757,essv5159640,essv5096400,essv5091662,essv5152311,essv5109172,essv5007151,essv5143864,essv5120493,essv5054126,essv5152374,essv5056118,essv5003144,essv5011848,essv5042000,essv5047895,essv5108395,essv5101890,essv5010492,essv5059172,essv5030813,essv5029353,essv5023655,essv5063660,essv5111812,essv5044649,essv5018846,essv5042580,essv5131344,essv5078841,essv5125723,essv5019162,essv5119486,essv5105083,essv5128198,essv5050538,essv5002381,essv5147355,essv5026145,essv5014416,essv5095440,essv5148958,essv5131952,essv5152433,essv5018664,essv5048398,essv5034791,essv5011041,essv5005121,essv5111385,essv5021045,essv5093919,essv5111991,essv5102528,essv5129157,essv5107956,essv5011922,essv5153863,essv5059101,essv5036611,essv5137710,essv5006828,essv5094236,essv5044031,essv5113990,essv5095122,essv5103543,essv5098639,essv5031976,essv5020531,essv5135291,essv5118513,essv5105734,essv5044838,essv5151073,essv5015553,essv5160268,essv5035987,essv5151518,essv5087604,essv5070849,essv5086198,essv5062360,essv5114292,essv5154689,essv5123271,essv5159502,essv5058266,essv5117307,essv5002418,essv5035681,essv5125726,essv5076106,essv5003640,essv5022502,essv5105028,essv5141916,essv5063622,essv5033222,essv5152042,essv5094754,essv5080010,essv5007589,essv5068316,essv5017818,essv5079316,essv5032733,essv5028754,essv5100424,essv5106792,essv5066790,essv5144395,essv5028418,essv5003423,essv5009109,essv5064207,essv5142470,essv5134931,essv5060861,essv5031816,essv5143205,essv5150093 M 1184 0 327 "" NA06984,NA06985,NA06994,NA06995,NA07000,NA07022,NA07029,NA07031,NA07037,NA10830,NA10837,NA10847,NA10850,NA10853,NA10855,NA10863,NA10865,NA11829,NA11830,NA11831,NA11843,NA11894,NA11918,NA11992,NA11994,NA12005,NA12057,NA12154,NA12234,NA12239,NA12249,NA12264,NA12272,NA12273,NA12282,NA12287,NA12336,NA12342,NA12343,NA12375,NA12376,NA12413,NA12489,NA12707,NA12716,NA12749,NA12752,NA12753,NA12761,NA12762,NA12763,NA12767,NA12777,NA12812,NA12818,NA12829,NA12832,NA12843,NA12865,NA12874,NA12878,NA12892,NA17965,NA17969,NA17981,NA17986,NA17993,NA17996,NA17997,NA18101,NA18133,NA18147,NA18151,NA18152,NA18153,NA18155,NA18156,NA18158,NA18161,NA18162,NA18489,NA18503,NA18505,NA18509,NA18510,NA18515,NA18517,NA18524,NA18532,NA18545,NA18548,NA18555,NA18566,NA18609,NA18615,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18639,NA18682,NA18685,NA18704,NA18757,NA18853,NA18854,NA18859,NA18870,NA18872,NA18873,NA18874,NA18875,NA18911,NA18913,NA18914,NA18917,NA18933,NA18935,NA18945,NA18946,NA18951,NA18959,NA18964,NA18976,NA18987,NA18995,NA19027,NA19036,NA19038,NA19056,NA19059,NA19063,NA19066,NA19083,NA19088,NA19095,NA19097,NA19101,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19142,NA19150,NA19151,NA19153,NA19175,NA19185,NA19189,NA19192,NA19194,NA19203,NA19204,NA19221,NA19222,NA19224,NA19226,NA19235,NA19236,NA19238,NA19239,NA19240,NA19247,NA19308,NA19311,NA19313,NA19317,NA19318,NA19327,NA19334,NA19350,NA19371,NA19374,NA19379,NA19382,NA19397,NA19399,NA19403,NA19434,NA19444,NA19451,NA19463,NA19468,NA19625,NA19651,NA19657,NA19664,NA19665,NA19670,NA19683,NA19700,NA19713,NA19727,NA19746,NA19748,NA19755,NA19771,NA19819,NA19834,NA19901,NA19908,NA19916,NA19917,NA19918,NA19983,NA20127,NA20129,NA20287,NA20290,NA20294,NA20295,NA20297,NA20300,NA20301,NA20332,NA20333,NA20336,NA20341,NA20346,NA20347,NA20356,NA20357,NA20358,NA20363,NA20364,NA20508,NA20510,NA20517,NA20518,NA20520,NA20521,NA20524,NA20538,NA20542,NA20544,NA20755,NA20771,NA20772,NA20783,NA20785,NA20795,NA20801,NA20808,NA20809,NA20818,NA20828,NA20849,NA20869,NA20871,NA20874,NA20885,NA20888,NA20892,NA20896,NA20898,NA20907,NA21105,NA21116,NA21137,NA21141,NA21307,NA21309,NA21316,NA21333,NA21352,NA21353,NA21356,NA21357,NA21359,NA21360,NA21361,NA21363,NA21378,NA21382,NA21383,NA21384,NA21387,NA21391,NA21400,NA21420,NA21424,NA21425,NA21434,NA21436,NA21448,NA21453,NA21473,NA21475,NA21486,NA21488,NA21490,NA21494,NA21509,NA21510,NA21513,NA21514,NA21519,NA21521,NA21522,NA21524,NA21525,NA21528,NA21573,NA21587,NA21596,NA21599,NA21600,NA21608,NA21613,NA21614,NA21616,NA21619,NA21631,NA21634,NA21647,NA21648,NA21682,NA21685,NA21719,NA21768,NA21776,NA21825,NA21826 nsv9266 15 51572719 51577601 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27500 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv9267 15 51608297 51919904 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26226 S 31 0 1 Samples from several populations that are part of the HapMap project. WDR72 NA18860 nsv904225 15 51627957 51666240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562142 S 6533 0 1 WDR72 MS25396 esv275172 15 51628963 51636982 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585649 S 1250 0 1 WDR72 nsv527474 15 51661883 51779125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703918 S 2026 0 1 WDR72 esv24308 15 51668290 51669064 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10940 S 451 0 1 WDR72 NA07045 nsv904226 15 51670536 52245602 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572509 S 6533 1 0 UNC13C,WDR72 IS33087 dgv318n27 15 51677654 52244046 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457144,nsv457145 M 1557 2 0 UNC13C,WDR72 HGDP00130,HGDP00726 nsv833010 15 51722944 51887141 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451952 S 95 1 0 WDR72 esv268411 15 51728362 51728492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496748,essv2511773,essv2494148,essv2504253,essv2509722,essv2493783,essv2494987,essv2498537,essv2505795,essv2507235,essv2493946,essv2513549,essv2509191,essv2501299,essv2499072,essv2510893,essv2509631,essv2497515,essv2510394,essv2496983,essv2499772,essv2501848,essv2498013,essv2502085 M 157 24 0 Samples from several populations that are part of the HapMap project. WDR72 NA18498,NA18499,NA18502,NA18505,NA18508,NA18517,NA18520,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA19093,NA19114,NA19116,NA19129,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv274672 15 51728364 51728541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584653,essv2583320 M 7 2 0 Samples from several populations that are part of the HapMap project. WDR72 NA19239,NA19240 nsv510400 15 51742689 51748689 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621426 S 4 0 1 WDR72 NA15510 esv272777 15 51743361 51746052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580610,essv2579318 M 7 2 0 Samples from several populations that are part of the HapMap project. WDR72 NA19238,NA19239 esv270160 15 51743370 51745909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496747,essv2511745,essv2494227,essv2504089,essv2503032,essv2509897,essv2501180,essv2493573,essv2494962,essv2498562,essv2505917,essv2507251,essv2493983,essv2513373,essv2507344,essv2501459,essv2506891,essv2510874,essv2509508,essv2493499,essv2497683,essv2510430,essv2497049,essv2499620,essv2501875,essv2498135,essv2502195 M 157 27 0 Samples from several populations that are part of the HapMap project. WDR72 NA18498,NA18499,NA18502,NA18505,NA18507,NA18508,NA18516,NA18517,NA18520,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA19093,NA19102,NA19116,NA19129,NA19137,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv23392 15 51761832 51763389 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20099 S 451 0 1 WDR72 NA11931 nsv527020 15 51763459 51763689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703395 S 2026 0 1 WDR72 esv2347607 15 51770958 51771359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578823 S 1 0 1 WDR72 NA18507 nsv457146 15 51790383 51809415 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534404 S 1557 0 1 WDR72 1780854128_A nsv457147 15 51868102 51944272 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534405 S 1557 1 0 "" 1780854382_A nsv457148 15 51940754 51959844 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534406 S 1557 0 1 "" 1780854299_A dgv2384n71 15 51950174 51997969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904227,nsv904228 M 6533 0 2 "" IS30311,MS18742 esv1183918 15 51953233 51953233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102486 S 2 1 0 "" HuRef esv274222 15 51975445 51975781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580859,essv2579641 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271726 15 51975472 51975826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500847,essv2511007,essv2503189,essv2507958,essv2500220,essv2505555,essv2508521,essv2500255,essv2496592,essv2496786,essv2511791,essv2494240,essv2504169,essv2501175,essv2493669,essv2498353,essv2500370,essv2497355,essv2497127,essv2497836,essv2499850,essv2494473,essv2500136,essv2512653,essv2508169,essv2508447,essv2508614,essv2509988,essv2499246,essv2501580,essv2512844,essv2498529,essv2513361,essv2503123,essv2512385,essv2495969,essv2501220,essv2509630,essv2499675,essv2511964,essv2504381 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11830,NA11831,NA11881,NA12003,NA12006,NA12154,NA12717,NA12891,NA18486,NA18498,NA18499,NA18502,NA18505,NA18516,NA18517,NA18526,NA18537,NA18545,NA18552,NA18555,NA18562,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18858,NA18907,NA18943,NA18949,NA18961,NA19093,NA19129,NA19225,NA19238 esv269190 15 51981510 51981596 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552878,essv2539858,essv2549532,essv2519855,essv2531074,essv2559396,essv2576979 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18563,NA18564,NA18566,NA18573,NA18638,NA18970 nsv511559 15 51984619 51991556 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626184 S 1 0 1 "" 1 esv988229 15 51985888 51990947 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564730 S 3 0 1 "" HuRef nsv827335 15 51987144 51989884 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433215,nssv1429415,nssv1430260 M 31 0 3 "" AK12,NA18947,NA18972 dgv52e180 15 51987144 51990530 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989405,esv1001606 M 3 0 1 "" HuRef nsv512395 15 51987171 51990586 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624984 S 1 0 1 "" 1 esv7188 15 51987191 51990472 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29629 S 1 0 1 "" SJK esv26134 15 51987236 51990450 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20469 S 451 0 6 "" NA06985,NA07037,NA11894,NA12004,NA12044,NA12156 nsv833011 15 52013527 52208859 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451953,nssv1451954 M 95 1 1 UNC13C esv272172 15 52036021 52036370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579155,essv2579664 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270034 15 52036040 52036380 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517489,essv2514090,essv2518726,essv2516425,essv2516194,essv2515277 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12043,NA12045,NA12814,NA12891,NA19238 nsv904229 15 52054902 52127362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549236 S 6533 1 0 UNC13C MS18143 esv273396 15 52073641 52073895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580406,essv2580824 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238 esv271160 15 52073657 52073994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575981,essv2536436,essv2543993,essv2568131,essv2523398,essv2570648,essv2548518,essv2530543,essv2557275,essv2557242,essv2532184,essv2578530,essv2550141,essv2558778,essv2552783,essv2565064,essv2549144,essv2522172,essv2530982,essv2559023,essv2541968,essv2550914,essv2556201,essv2528010,essv2530131,essv2522567,essv2529534,essv2526628,essv2574606,essv2530329,essv2568601,essv2549652,essv2571183 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA11920,NA11992,NA11995,NA12004,NA12044,NA12045,NA12873,NA18499,NA18501,NA18505,NA18510,NA18511,NA18516,NA18542,NA18558,NA18564,NA18571,NA18573,NA18638,NA18856,NA18858,NA18871,NA18907,NA18949,NA18960,NA19093,NA19114,NA19138,NA19141,NA19147,NA19225,NA19238 nsv833012 15 52140912 52180322 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451958,nssv1451961,nssv1451960,nssv1451959,nssv1451957,nssv1451955,nssv1451956 M 95 1 6 UNC13C esv2345390 15 52173279 52173723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953105 S 1 0 1 UNC13C NA18507 nsv507782 15 52201742 52207742 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623187 S 4 1 0 UNC13C NA18994 nsv523769 15 52222160 52225168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699591 S 2026 0 1 UNC13C nsv827336 15 52232637 52235076 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437033 S 31 0 1 UNC13C NA18542 esv270398 15 52236248 52236581 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521105,essv2526176,essv2522912,essv2571064,essv2556639,essv2545545,essv2577211,essv2525403,essv2550368,essv2554156,essv2544520,essv2552026,essv2547184,essv2558271,essv2553790,essv2559739,essv2576354,essv2520222,essv2564028,essv2556971,essv2532162,essv2569264,essv2549991,essv2558943,essv2537044,essv2539225,essv2569807,essv2527325,essv2561361,essv2544871,essv2523830,essv2524624,essv2539705,essv2549350,essv2522216,essv2567838,essv2535502,essv2572433,essv2559199,essv2566721,essv2541977,essv2568890,essv2527860,essv2539255,essv2578298,essv2527569,essv2555811,essv2531624,essv2543047,essv2572167,essv2575394,essv2575205,essv2538682,essv2560704,essv2530368,essv2568467,essv2549644,essv2545779,essv2574327,essv2551556,essv2536261,essv2554441 M 157 62 0 Samples from several populations that are part of the HapMap project. UNC13C NA06986,NA07346,NA11894,NA11918,NA11931,NA11993,NA11994,NA12003,NA12043,NA12156,NA12234,NA12287,NA12414,NA12489,NA12717,NA12750,NA12763,NA12776,NA12814,NA12815,NA12828,NA18501,NA18505,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18555,NA18563,NA18564,NA18571,NA18577,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18907,NA18912,NA18940,NA18952,NA18956,NA18961,NA18965,NA18973,NA19099,NA19102,NA19108,NA19116,NA19141,NA19147,NA19225,NA19239,NA19240,NA19257 esv274387 15 52236249 52236580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584571,essv2583544 M 7 2 0 Samples from several populations that are part of the HapMap project. UNC13C NA19239,NA19240 nsv457149 15 52248833 52275351 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534407 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UNC13C HGDP00828 esv28137 15 52277483 52283643 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18484 S 451 1 0 UNC13C NA12878 nsv518871 15 52283894 52286884 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696327 S 2026 1 0 UNC13C esv25316 15 52319704 52320322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12090 S 451 0 1 UNC13C NA19257 esv2213619 15 52327843 52328301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913992 S 1 0 1 UNC13C NA18507 dgv2385n71 15 52472755 52584469 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904230,nsv904234,nsv904235,nsv904233,nsv904231,nsv904232 M 6533 0 9 UNC13C IS30532,IS30597,IS31081,IS35229,IS35743,IS38263,MS10802,MS18847,MS18978 dgv148n21 15 52541477 52566604 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv516912,nsv518418 M 2026 5 0 UNC13C esv275383 15 52598106 52602144 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585353 S 1250 0 1 UNC13C nsv904236 15 52608189 52699731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530115 S 6533 0 1 UNC13C MS10203 esv1445536 15 52632346 52632346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024082 S 2 1 0 UNC13C HuRef nsv526413 15 52663715 52692074 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702713 S 2026 1 0 UNC13C nsv904237 15 52675829 52714776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519279 S 6533 0 1 UNC13C SP81003 esv28394 15 52678097 52680354 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11366 S 451 0 1 UNC13C NA11995 esv997408 15 52682374 52682374 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573317 S 3 1 0 UNC13C HuRef nsv94299 15 52682374 52682374 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112877 M 24 UNC13C esv1281044 15 52682375 52682375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759277 S 2 1 0 UNC13C HuRef nsv904238 15 52706831 52786056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514005 S 6533 0 1 UNC13C SP55882 nsv833013 15 52715117 52922566 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451962 S 95 1 0 "" nsv457155 15 52730485 52866015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534409 S 1557 0 1 "" 1780854257_A esv32954 15 52743189 52746293 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100057 S 51 0 1 "" 22086 esv2750738 15 52747818 52754510 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100310 S 51 0 1 "" 22300 esv21556 15 52747967 52754150 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17067 S 451 1 0 "" NA12878 esv6746 15 52771008 52771074 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29187 S 1 1 0 "" SJK esv33842 15 52771736 52773615 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97604,essv101164,essv93900,essv96811,essv101062,essv94108,essv101304,essv94380,essv97932,essv93165,essv95247,essv97337,essv95764,essv94502,essv92696,essv93743,essv96091,essv96669,essv93316,essv92528,essv98062,essv96427,essv97753,essv96414 M 51 24 0 "" 21616,21618,21634,21659,21693,21802,21805,21808,21837,21863,21872,21879,21911,21932,21944,21972,22007,22011,22170,22233,22259,22261,22278,22371 esv32807 15 52786699 52786852 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97860 S 51 1 0 "" 21837 esv32684 15 52796400 52796779 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98818 S 51 0 1 "" 21606 esv33958 15 52811960 52814422 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99188 S 51 1 0 "" 22275 esv32725 15 52851606 52851930 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100734,essv100939,essv94813,essv94026,essv101283,essv95541,essv93100,essv95904,essv94605,essv96577,essv100020,essv95976,essv93267,essv92515 M 51 8 6 "" 21656,21693,21791,21802,21805,21847,21863,21911,21932,22011,22086,22127,22170,22233 nsv525041 15 52855501 52924047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701085 S 2026 0 1 "" nsv833014 15 52886475 53036783 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451963,nssv1451965,nssv1451966,nssv1451967,nssv1451964 M 95 3 2 "" esv2204083 15 52890963 52891373 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770769 S 1 0 1 "" NA18507 nsv1540 15 52900065 52938035 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5558,nssv1252 M 9 2 0 "" NA19129,NA19240 esv21731 15 52916843 52925269 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16456 S 451 0 1 "" NA19190 esv2421598 15 52917264 52925180 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005300,essv5145603,essv5072515,essv5035155,essv5079492,essv5130476,essv5144537,essv5110232,essv5029494,essv5066203,essv5147952,essv5031921,essv5107518 M 1184 0 13 "" NA18924,NA18925,NA19182,NA19183,NA19190,NA19235,NA19237,NA19701,NA19702,NA20281,NA20345,NA20346,NA20347 nsv516656 15 52918575 52924047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698913,nssv673895,nssv703978,nssv669928,nssv672172,nssv695446 M 2026 0 6 "" esv29336 15 52926573 52927305 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13408 S 451 3 0 "" NA12749,NA18858,NA18916 nsv525327 15 52926714 52947687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701437 S 2026 0 1 "" nsv904239 15 52928557 53060288 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503428 S 6533 1 0 "" SP52055 nsv904240 15 52964718 53021271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588387,nssv1572516,nssv1586728 M 6533 0 3 "" IS33115,IS37964,IS38186 nsv1541 15 52977763 53034494 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6633,nssv4153,nssv10054,nssv10931,nssv2108 M 9 0 5 "" NA12156,NA12878,NA15510,NA18555,NA18956 nsv510661 15 52994810 53014049 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617420,nssv618926,nssv620084,nssv622694 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv111 15 52995999 53034494 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv111 S 1 0 1 "" NA15510 esv2462300 15 53005187 53012695 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173983 S 1 0 1 "" NA18507 dgv45n16 15 53005404 53012180 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436193,nsv435661 M 2 0 2 "" NA15510,NA18505 esv3447 15 53005416 53011834 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25888 S 1 0 1 Single Asian sample YH "" YH nsv512396 15 53005417 53011888 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624985 S 1 0 1 "" 1 esv8002 15 53005497 53011718 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30443 S 1 0 1 "" SJK dgv23n47 15 53005507 53011732 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498846,nsv498845 M 9 0 2 "" esv993693 15 53005515 53011951 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564502 S 3 0 1 "" HuRef esv1671199 15 53005522 53011731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214811 S 2 0 1 "" HuRef nsv9268 15 53020920 53031217 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26245,nssv27538 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19221 esv269720 15 53036296 53036410 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493222,essv2496284,essv2508941,essv2507072,essv2498925 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18511,NA18522,NA18870,NA19138 esv1035652 15 53119032 53119090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723204 S 2 0 1 "" HuRef nsv457156 15 53187941 53253447 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534410 S 1557 0 1 "" NINDS_242 esv1011212 15 53216917 53217552 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564745 S 3 0 1 "" HuRef esv1566582 15 53217198 53217519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695635 S 2 0 1 "" HuRef nsv525768 15 53253447 53272786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701936 S 2026 0 1 RSL24D1 dgv2386n71 15 53321634 53398418 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904241,nsv904242 M 6533 2 0 RAB27A IS34416,IS40429 esv267383 15 53404033 53404118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515543 S 157 1 0 Samples from several populations that are part of the HapMap project. PIGB NA12815 nsv904243 15 53414820 53521450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567479 S 6533 0 1 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352,MIR628,PIGB IS31090 nsv520799 15 53432953 53547814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697618 S 2026 0 1 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352,MIR628,PIGB dgv437n67 15 53442683 53444136 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827338,nsv827337 M 31 0 10 CCPG1,DYX1C1-CCPG1 AK12,AK18,AK2,NA18537,NA18542,NA18566,NA18582,NA18942,NA18949,NA18968 esv9731 15 53442749 53444321 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32172 S 1 0 1 CCPG1,DYX1C1-CCPG1 SJK esv29128 15 53442899 53444024 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9998 S 451 0 2 CCPG1,DYX1C1-CCPG1 NA11894,NA11995 esv269468 15 53458575 53458660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518130,essv2516065,essv2514386,essv2519129 M 157 4 0 Samples from several populations that are part of the HapMap project. CCPG1,DYX1C1-CCPG1 NA12872,NA12873,NA12874,NA19141 nsv904244 15 53475261 53558203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598528 S 6533 0 1 CCPG1,DYX1C1,DYX1C1-CCPG1,FLJ27352 IS40819 esv268499 15 53489503 53489588 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518039 S 157 1 0 Samples from several populations that are part of the HapMap project. DYX1C1-CCPG1,FLJ27352 NA12872 nsv833016 15 53536461 53685198 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451968 S 95 1 0 DYX1C1,DYX1C1-CCPG1,PYGO1 nsv1542 15 53541434 53575897 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2934 S 9 1 0 DYX1C1,DYX1C1-CCPG1 NA18555 nsv817693 15 53576124 53596952 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416805,nssv1416807 M 112 0 2 DYX1C1,DYX1C1-CCPG1 NA19159,NA19160 nsv94482 15 53655973 53656250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113060 M 24 PYGO1 nsv457158 15 53717834 53769549 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534411 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRTG HGDP01164 nsv833017 15 53753249 53945204 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451969 S 95 0 1 NEDD4,PRTG nsv528617 15 53989361 53995275 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705246 S 2026 0 1 NEDD4 nsv819986 15 53995726 53996548 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419094 S 2 0 1 NEDD4 AK1 nsv1543 15 54013581 54065709 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2936,nssv10055,nssv7174,nssv1253 M 9 4 0 NEDD4 NA12156,NA18555,NA18956,NA19240 nsv509571 15 54014039 54083635 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623676 S 4 1 0 NEDD4 NA18994 nsv904245 15 54017052 54111743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566121 S 6533 0 1 NEDD4 IS30593 dgv319n27 15 54060738 54111743 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457160,nsv457161 M 1557 0 2 NEDD4 1780862101_A,1780862416_A nsv827339 15 54085779 54087730 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430272 S 31 1 0 "" NA18947 nsv827340 15 54085779 54089883 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433216 S 31 1 0 "" NA18972 dgv149n21 15 54096833 54105676 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528383,nsv522734 M 2026 0 2 "" nsv833018 15 54113091 54279827 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451970 S 95 1 0 RFX7 nsv522888 15 54150260 54156416 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698546 S 2026 0 1 "" esv25623 15 54235286 54236196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12626 S 451 0 1 RFX7 NA18517 nsv519725 15 54272890 54283874 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657934,nssv689625 M 2026 0 2 RFX7 nsv833019 15 54273321 54437225 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451971 S 95 1 0 RFX7 nsv528965 15 54276451 54291890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705664 S 2026 0 1 RFX7 nsv510401 15 54306188 54312188 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618412 S 4 0 1 RFX7 CHM nsv827341 15 54316438 54319543 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441505,nssv1434716 M 31 0 2 RFX7 NA18570,NA18969 esv259850 15 54441107 54441498 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396568,essv2398814,essv2399522 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18582,NA19137 nsv1545 15 54446790 54684673 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9516,nssv6634 M 9 0 2 MNS1,TEX9 NA12156,NA18507 dgv10n31 15 54447001 54683677 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471506,nsv471330 M 3 MNS1,TEX9 nsv904246 15 54453119 54519484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508860 S 6533 0 1 MNS1,TEX9 SP54620 nsv498847 15 54454330 54683687 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585708 S 9 0 1 MNS1,TEX9 esv2525559 15 54456586 54684704 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361561 S 1 0 1 MNS1,TEX9 NA18507 nsv433294 15 54463749 54640827 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463175 S 9 0 1 Samples from several populations that are part of the HapMap project. MNS1,TEX9 NA18507 esv35150 15 54465022 54683596 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979210,essv6988126,essv6979211,essv6979212 M 771 0 1 MNS1,TEX9 NA18507 nsv510662 15 54473645 54522839 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622695 S 4 0 1 MNS1,TEX9 NA18994 nsv9270 15 54474238 54547712 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27546 S 31 0 1 Samples from several populations that are part of the HapMap project. MNS1,TEX9 NA19221 esv1244240 15 54492744 54492744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636018 S 2 1 0 TEX9 HuRef esv24258 15 54493021 54502113 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10253 S 451 0 2 TEX9 NA18517,NA19190 dgv749e1 15 54523770 54577372 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13317,esv1313 M 271 0 0 MNS1,TEX9 NA18507 nsv904247 15 54563771 54608317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547971 S 6533 0 1 "" MS17658 esv1319359 15 54564364 54564364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905477 S 2 1 0 "" HuRef nsv904248 15 54574406 54593465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509149,nssv1500086,nssv1515819,nssv1499472 M 6533 0 4 "" SP50066,SP50520,SP54753,SP56289 nsv904249 15 54574406 54605069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500809,nssv1513092,nssv1513976,nssv1515473,nssv1503093,nssv1507203 M 6533 0 6 "" SP51025,SP51485,SP54490,SP55683,SP55878,SP56200 nsv9271 15 54577013 54618847 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23599,nssv21843 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA12155 nsv827343 15 54577096 54579961 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436108,nssv1436183 M 31 0 2 "" NA18566,NA18592 nsv514783 15 54577172 54579820 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628241 S 1414 0 1 "" esv23468 15 54577184 54586741 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20348 S 451 0 3 "" NA12156,NA19108,NA19114 esv2421986 15 54577995 54588269 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5043671,essv5126752,essv5002186,essv5013987,essv5019811,essv5006277,essv5133730,essv5123034,essv5060502,essv5052759,essv5026261,essv5067813,essv5002502,essv5061237,essv5145770,essv5048820,essv5012894,essv5085645,essv5062336,essv5065198,essv5059091,essv5143355,essv5012837,essv5135938,essv5081893,essv5122625,essv5128539,essv5114337,essv5056613,essv5060807,essv5125329,essv5002274,essv5113864,essv5144959,essv5113989,essv5072560,essv5125497,essv5053028,essv5142921,essv5106736,essv5148506,essv5040531,essv5090214,essv5076880,essv5016479,essv5027264,essv5059953,essv5126362,essv5006289,essv5061572,essv5021208,essv5096175,essv5073675,essv5057188,essv5074617,essv5057393,essv5110005,essv5088259,essv5084509,essv5157498,essv5157801,essv5154751,essv5034299,essv5030484,essv5132570,essv5079774,essv5036472,essv5154386,essv5102717,essv5127787,essv5118112,essv5140590,essv5115507,essv5077442,essv5011783,essv5016597,essv5012920,essv5154083,essv5016880,essv5083130,essv5158719,essv5056283,essv5096382,essv5031030,essv5038952,essv5011491,essv5052124,essv5010151,essv5102544,essv5064840,essv5141995,essv5070377,essv5109177,essv5034490,essv5008248,essv5009953,essv5078459,essv5116225,essv5038020,essv5067322,essv5131281,essv5099361,essv5081698,essv5015411,essv5154369,essv5006041,essv5073681,essv5123028,essv5007988,essv5153919,essv5015837,essv5049350,essv5039224,essv5088710,essv5157984,essv5046572,essv5082970,essv5003419,essv5036979,essv5019835,essv5099693,essv5071421,essv5045423,essv5095686,essv5143279,essv5060406,essv5087372,essv5054959,essv5018865,essv5124545,essv5093199,essv5063812,essv5109190,essv5152015,essv5040862,essv5074114,essv5083843,essv5007694,essv5087179,essv5013616,essv5066743,essv5121758,essv5011463,essv5111702,essv5111197,essv5093386,essv5067862,essv5128600,essv5131166,essv5027291,essv5138554,essv5127309,essv5023952,essv5061249,essv5143150,essv5039278,essv5018359,essv5068632,essv5048447,essv5014625,essv5150559,essv5094906,essv5031861,essv5125764,essv5010972,essv5058950,essv5124382,essv5085442,essv5102211 M 1184 0 169 "" NA06994,NA07055,NA10831,NA10835,NA10843,NA10850,NA10856,NA11829,NA11840,NA11919,NA11992,NA12003,NA12155,NA12156,NA12248,NA12752,NA12753,NA12761,NA12762,NA12818,NA12829,NA17965,NA17972,NA17986,NA18105,NA18141,NA18143,NA18147,NA18158,NA18160,NA18484,NA18485,NA18486,NA18489,NA18497,NA18498,NA18499,NA18507,NA18520,NA18557,NA18561,NA18566,NA18577,NA18592,NA18596,NA18597,NA18603,NA18605,NA18616,NA18634,NA18674,NA18874,NA18875,NA18934,NA18935,NA19046,NA19066,NA19096,NA19097,NA19108,NA19109,NA19114,NA19115,NA19131,NA19138,NA19139,NA19140,NA19142,NA19143,NA19152,NA19171,NA19176,NA19185,NA19186,NA19236,NA19237,NA19309,NA19313,NA19316,NA19317,NA19328,NA19334,NA19391,NA19396,NA19398,NA19434,NA19444,NA19660,NA19664,NA19685,NA19711,NA19713,NA19750,NA19751,NA19762,NA19771,NA19772,NA19773,NA19794,NA19818,NA19835,NA19836,NA19904,NA19909,NA19915,NA19917,NA19983,NA20287,NA20347,NA20357,NA20358,NA20359,NA20502,NA20506,NA20521,NA20524,NA20529,NA20535,NA20542,NA20772,NA20786,NA20790,NA20792,NA20810,NA20853,NA20887,NA20907,NA21097,NA21107,NA21320,NA21360,NA21362,NA21363,NA21365,NA21366,NA21381,NA21384,NA21386,NA21388,NA21389,NA21400,NA21402,NA21404,NA21417,NA21436,NA21438,NA21473,NA21478,NA21480,NA21485,NA21487,NA21488,NA21509,NA21510,NA21523,NA21525,NA21529,NA21574,NA21578,NA21597,NA21613,NA21631,NA21648,NA21678,NA21686,NA21723,NA21733,NA21768,NA21826 nsv442703 15 54577995 54588269 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438271 15 54579728 54582930 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470666,nssv470665 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18561,NA18605 esv1672054 15 54621229 54621229 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027384 S 2 1 0 "" HuRef esv28728 15 54639100 54655983 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12125 S 451 1 0 "" NA12878 nsv833020 15 54843239 55003360 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451972,nssv1451973 M 95 1 1 LOC145783,TCF12 nsv457162 15 54870298 55013058 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534414 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC145783,TCF12 HGDP01023 esv1160815 15 54904222 54904222 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613111 S 2 1 0 "" HuRef nsv94695 15 54904223 54904223 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113273 M 24 "" nsv827344 15 54919896 54926395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430928 S 31 0 1 "" AK16 esv9081 15 55000451 55000548 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31522 S 1 1 0 TCF12 SJK nsv904250 15 55013058 55081377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503661 S 6533 0 1 TCF12 SP52093 nsv904251 15 55029262 55363208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564208 S 6533 0 1 TCF12 IS30180 nsv94861 15 55250144 55250293 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113439 M 24 TCF12 nsv457164 15 55282352 55346679 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534416 S 1557 0 1 TCF12 1780854023_A nsv833021 15 55282705 55538658 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451975,nssv1451974 M 95 2 0 CGNL1,LOC283663,TCF12 nsv1546 15 55343246 55376902 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1254 S 9 1 0 TCF12 NA19240 nsv526342 15 55353151 55384572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702634 S 2026 1 0 LOC283663,TCF12 nsv94818 15 55354818 55354818 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113396 M 24 TCF12 nsv94799 15 55354881 55354881 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113377 M 24 TCF12 nsv7266 15 55374016 59484720 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6635 S 9 0 0 ADAM10,ALDH1A2,ANXA2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,FOXB1,GCNT3,GCOM1,GRINL1A,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,LOC283663,MIR2116,MYO1E,NARG2,RNF111,RORA,SLTM NA12156 esv2751536 15 55414700 55575700 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988433,essv6985630,essv6981657,essv6981656,essv6981655 M 771 1 0 CGNL1 BEC_312 dgv2387n71 15 55423011 55568330 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904253,nsv904252 M 6533 4 0 CGNL1 IS33636,IS37743,IS39516,MS19002 dgv43n6 15 55428740 55438437 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv94710,nsv95017 M 24 "" nsv457166 15 55431559 55563118 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534417 S 1557 1 0 CGNL1 1782681495_A nsv516366 15 55431559 55568330 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688615,nssv683558,nssv668668,nssv682044,nssv705716,nssv692257,nssv687907,nssv660246,nssv667792,nssv655031,nssv692279 M 2026 10 1 CGNL1 nsv833022 15 55444704 55617404 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451979,nssv1451981,nssv1451978,nssv1451977,nssv1451980,nssv1451976 M 95 6 0 CGNL1 nsv904254 15 55490245 57808929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555644 S 6533 1 0 ADAM10,ALDH1A2,AQP9,BNIP2,CCNB2,CGNL1,FAM63B,FAM81A,GCNT3,GCOM1,GRINL1A,GTF2A2,HSP90AB4P,LDHAL6B,LIPC,MIR2116,MYO1E,RNF111,SLTM MS21477 esv2454508 15 55562898 55564418 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279420 S 1 0 1 CGNL1 NA18507 nsv904255 15 55577728 55694866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524608 S 6533 0 1 CGNL1,GCOM1 SP55122 nsv94840 15 55709477 55718704 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113418 M 24 GCOM1 dgv150n21 15 55737926 55740856 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524912,nsv518825 M 2026 0 2 GCOM1 esv2034597 15 55768213 55768623 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822738 S 1 0 1 GCOM1 NA18507 esv272078 15 55781957 55782074 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511743,essv2510674,essv2493214,essv2509129,essv2501026,essv2499068 M 157 6 0 Samples from several populations that are part of the HapMap project. GCOM1 NA18499,NA18501,NA18504,NA18522,NA18856,NA19114 nsv1547 15 55821954 55856468 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2937 S 9 1 0 "" NA18555 nsv1548 15 55926365 55961018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1255 S 9 1 0 "" NA19240 esv28331 15 55942656 55943331 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16660 S 451 1 0 "" NA11993 nsv833023 15 55949131 56127466 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451982 S 95 1 0 ALDH1A2 nsv522269 15 56021414 56021505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695049 S 2026 0 1 "" dgv2388n71 15 56040561 56064039 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904259,nsv904256,nsv904260 M 6533 0 3 ALDH1A2 MS24873,SP54223,SP81335 dgv2389n71 15 56041186 56068327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904257,nsv904258 M 6533 0 4 ALDH1A2 MS14437,MS20346,MS22797,MS24785 nsv904261 15 56045716 56134552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562143 S 6533 0 1 ALDH1A2 MS25396 esv2533857 15 56068310 56069685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383382 S 1 0 1 ALDH1A2 NA18507 dgv12e194 15 56069217 56069692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2253188,esv2215835 M 1 0 1 ALDH1A2 NA18507 esv4077 15 56069333 56069567 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26518 S 1 0 1 Single Asian sample YH ALDH1A2 YH esv1602894 15 56069413 56069519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071486 S 2 0 1 ALDH1A2 HuRef nsv904262 15 56127364 56143090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536550 S 6533 0 1 ALDH1A2 MS12827 nsv904263 15 56127364 56224638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553884 S 6533 0 1 ALDH1A2,AQP9 MS20359 nsv1549 15 56202106 56235257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2109 S 9 1 0 AQP9 NA18555 nsv457172 15 56205187 56244799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534418 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AQP9 HGDP00814 nsv833024 15 56234751 56409255 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451983 S 95 0 1 AQP9 nsv1550 15 56258052 56267108 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4154 S 9 1 0 AQP9 NA12878 dgv2390n71 15 56292414 56375802 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904264,nsv904265 M 6533 0 2 "" SP54884,SP81485 nsv510402 15 56365379 56371379 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618413 S 4 0 1 "" CHM nsv904266 15 56368213 56476479 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539461 S 6533 1 0 "" MS14334 esv2460369 15 56383088 56384716 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384605 S 1 0 1 "" NA18507 esv2279007 15 56383603 56384317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994414 S 1 0 1 "" NA18507 esv5355 15 56383698 56384231 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27796 S 1 0 1 Single Asian sample YH "" YH esv8982 15 56383801 56384109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31423 S 1 0 1 "" SJK nsv518436 15 56408088 56410700 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695872 S 2026 0 1 "" nsv520731 15 56410700 56410817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674848,nssv682284 M 2026 0 2 "" nsv522166 15 56410700 56411620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694939 S 2026 0 1 "" nsv904267 15 56486302 56556875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539462 S 6533 1 0 LIPC MS14334 nsv524065 15 56513131 56518181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699933 S 2026 0 1 LIPC nsv904268 15 56550970 56590517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599054 S 6533 1 0 LIPC IS40815 esv259952 15 56563615 56565083 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400560,essv2397576,essv2400269,essv2396801,essv2399396,essv2396650,essv2396265,essv2396570,essv2394991,essv2397466,essv2395706,essv2400365,essv2395078,essv2399858,essv2400621,essv2395556,essv2400165,essv2397902,essv2395905,essv2396988,essv2401016,essv2394499 M 144 0 0 Samples from several populations that are part of the HapMap project. LIPC NA12043,NA12044,NA12154,NA12249,NA12287,NA12414,NA12716,NA18507,NA18511,NA18520,NA18532,NA18555,NA18571,NA18573,NA18576,NA18593,NA18608,NA18907,NA18945,NA18973,NA19099,NA19257 nsv827345 15 56563730 56565107 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439289 S 31 1 0 LIPC NA18973 esv25142 15 56563751 56565057 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15713 S 451 1 0 LIPC NA12044 nsv524098 15 56608270 56621683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699973 S 2026 0 1 LIPC nsv522373 15 56616827 56624230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694160 S 2026 0 1 LIPC nsv94680 15 56630284 56630470 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113258 M 24 LIPC esv1002236 15 56640458 56641579 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587283 S 3 1 0 LIPC HuRef nsv1551 15 56678931 56723872 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7175 S 9 0 1 ADAM10 NA12156 nsv904269 15 56693437 56779883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577319 S 6533 0 1 ADAM10,HSP90AB4P IS34407 esv2561717 15 56699585 56701212 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350782 S 1 0 1 ADAM10 NA18507 esv2129733 15 56699967 56700672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894989 S 1 0 1 ADAM10 NA18507 esv4784 15 56700115 56700521 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27225 S 1 0 1 Single Asian sample YH ADAM10 YH esv1010091 15 56700148 56700465 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573432 S 3 0 1 ADAM10 HuRef esv5828 15 56700151 56700466 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28269 S 1 0 1 ADAM10 SJK esv1712574 15 56700157 56700475 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613969 S 2 0 1 ADAM10 HuRef esv34110 15 56737283 57168926 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ADAM10,FAM63B,HSP90AB4P,RNF111,SLTM nsv518097 15 56746565 56752223 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695510 S 2026 0 1 ADAM10 nsv527307 15 56890620 57805779 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703727 S 2026 1 0 BNIP2,CCNB2,FAM63B,FAM81A,GCNT3,GTF2A2,LDHAL6B,MIR2116,MYO1E,RNF111,SLTM nsv904270 15 56927621 57025707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574080,nssv1597861 M 6533 0 2 FAM63B,SLTM IS33507,IS41113 nsv94675 15 56952173 56961672 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113253 M 24 SLTM esv268169 15 56956640 56956993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517476,essv2518599,essv2515035,essv2516366 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12287,NA12812,NA12814 nsv904271 15 57036876 57180303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568832 S 6533 0 1 RNF111 IS31359 dgv151n21 15 57055702 57182476 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520872,nsv520679 M 2026 2 0 RNF111 nsv94885 15 57060403 57061750 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113463 M 24 "" nsv510663 15 57097968 57157333 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618927 S 4 0 1 RNF111 NA10860 nsv833025 15 57123440 57309468 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451985,nssv1451984 M 95 2 0 CCNB2,LDHAL6B,MIR2116,MYO1E,RNF111 nsv520769 15 57158955 57162395 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697600 S 2026 1 0 RNF111 nsv819459 15 57174836 57175974 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419184 S 2 0 1 RNF111 AK1 esv1009383 15 57218398 57219564 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587159 S 3 0 1 MYO1E HuRef nsv833027 15 57262098 57395836 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451988,nssv1451986,nssv1451987,nssv1451989 M 95 1 3 LDHAL6B,MYO1E nsv904272 15 57287869 57336310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558553 S 6533 0 1 LDHAL6B,MYO1E MS23340 nsv904273 15 57305780 57354429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584050 S 6533 0 1 MYO1E IS36787 esv8718 15 57386413 57386487 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31159 S 1 1 0 MYO1E SJK nsv457175 15 57397045 57468506 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534420 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYO1E HGDP01179 nsv471246 15 57398035 57468506 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545733 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYO1E HGDP01179 nsv904274 15 57410868 57476670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579188 S 6533 0 1 MYO1E IS35028 dgv2391n71 15 57435925 57530302 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904276,nsv904275 M 6533 3 0 FAM81A,MYO1E MS15312,MS19334,MS23609 nsv904277 15 57454284 57492297 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562439 S 6533 1 0 "" MS25588 nsv524569 15 57454284 57499719 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700524 S 2026 1 0 "" nsv517855 15 57457629 57457699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695259 S 2026 0 1 "" nsv904278 15 57492297 57571940 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543298 S 6533 1 0 FAM81A MS16126 esv2481152 15 57499471 57501076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165771 S 1 0 1 "" NA18507 esv2159522 15 57499991 57500708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918361 S 1 0 1 "" NA18507 esv3098 15 57500154 57500615 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25539 S 1 0 1 Single Asian sample YH "" YH esv997985 15 57500180 57500510 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574227 S 3 0 1 "" HuRef esv1687856 15 57500190 57500521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328977 S 2 0 1 "" HuRef esv7941 15 57500192 57500512 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30382 S 1 0 1 "" SJK esv27356 15 57516816 57518266 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21135 S 451 1 0 FAM81A NA12044 nsv1552 15 57548344 57580045 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5559 S 9 1 0 FAM81A NA19129 nsv904279 15 57578958 57630219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499745 S 6533 1 0 FAM81A SP50125 nsv527754 15 57635763 57642518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704241 S 2026 0 1 "" esv25998 15 57657473 57662634 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21377 S 451 1 0 "" NA12749 esv23994 15 57675486 57691941 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19505 S 451 1 0 GCNT3 NA12878 nsv523274 15 57758927 57760855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699008 S 2026 0 1 BNIP2 nsv526682 15 57780050 57782235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703014 S 2026 0 1 "" esv996299 15 57784159 57784219 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581518 S 3 0 1 "" HuRef esv1635942 15 57784197 57784197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679755 S 2 1 0 "" HuRef esv1064768 15 57784197 57784258 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925540 S 2 0 1 "" HuRef nsv510403 15 57817520 57823520 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618414,nssv622256 M 4 0 2 "" CHM,NA10860 nsv904280 15 57830014 58311317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555645 S 6533 1 0 FOXB1 MS21477 esv9204 15 57924895 57924984 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31645 S 1 1 0 "" SJK esv275017 15 57942604 57946931 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585500 S 1250 0 1 "" nsv1553 15 57996653 58022235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7176 S 9 0 1 "" NA12156 nsv833028 15 58014857 58205404 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451990 S 95 1 0 FOXB1 nsv1554 15 58061110 58100602 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7177 S 9 0 1 FOXB1 NA12156 esv2487413 15 58064114 58065539 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383067 S 1 0 1 "" NA18507 esv1667002 15 58193233 58193233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312590 S 2 1 0 "" HuRef esv1921931 15 58327113 58327556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497617 S 1 0 1 "" NA18507 esv24285 15 58378767 58380449 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13876 S 451 0 2 "" NA12239,NA12414 esv22611 15 58410747 58419323 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20296 S 451 0 1 "" NA11931 esv1071950 15 58429501 58429501 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697412 S 2 1 0 ANXA2 HuRef esv2592269 15 58443872 58444965 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213103 S 1 1 0 ANXA2 NA18507 esv271908 15 58444520 58444846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557911,essv2565883,essv2571825,essv2546428,essv2521440,essv2525876,essv2542384,essv2522769,essv2543796,essv2570893,essv2577471,essv2570424,essv2576523,essv2550709,essv2534993,essv2554016,essv2544540,essv2547237,essv2529324,essv2558526,essv2577683,essv2559506,essv2565486,essv2564135,essv2561949,essv2537451,essv2528189,essv2540009,essv2557093,essv2552526,essv2532067,essv2562639,essv2578808,essv2550022,essv2558922,essv2537158,essv2539170,essv2561627,essv2544694,essv2562950,essv2553048,essv2538422,essv2542999,essv2540299,essv2524394,essv2565156,essv2522053,essv2567805,essv2529035,essv2567563,essv2569873,essv2563878,essv2553147,essv2535754,essv2559386,essv2566890,essv2542054,essv2569136,essv2543638,essv2556443,essv2527772,essv2539482,essv2578429,essv2572962,essv2555395,essv2567252,essv2566504,essv2527488,essv2557733,essv2522650,essv2531471,essv2571893,essv2529457,essv2575156,essv2526616,essv2560531,essv2560876,essv2574881,essv2530394,essv2568445,essv2560371,essv2548067,essv2546135,essv2574476,essv2551286,essv2535955,essv2538173,essv2548883,essv2533039,essv2554453,essv2547697,essv2563209 M 157 92 0 Samples from several populations that are part of the HapMap project. ANXA2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA12043,NA12044,NA12154,NA12155,NA12249,NA12287,NA12414,NA12717,NA12749,NA12750,NA12761,NA12776,NA12812,NA12828,NA12874,NA12878,NA12891,NA18489,NA18501,NA18502,NA18505,NA18507,NA18510,NA18511,NA18516,NA18517,NA18519,NA18523,NA18526,NA18532,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18571,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18912,NA18940,NA18942,NA18943,NA18947,NA18948,NA18952,NA18953,NA18960,NA18961,NA18973,NA19093,NA19102,NA19114,NA19116,NA19137,NA19138,NA19141,NA19147,NA19190,NA19210,NA19239,NA19240,NA19257 esv273112 15 58444520 58444846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582054,essv2582590,essv2584699,essv2583331 M 7 4 0 Samples from several populations that are part of the HapMap project. ANXA2 NA12878,NA12891,NA19239,NA19240 esv1613497 15 58444535 58444535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231706 S 2 1 0 ANXA2 HuRef dgv2392n71 15 58461964 58585882 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904282,nsv904281 M 6533 0 3 ANXA2,NARG2,RORA IS30597,IS33894,MS24785 nsv525689 15 58528133 58610709 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701847 S 2026 1 0 NARG2,RORA nsv507783 15 58533225 58539225 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619147,nssv617899,nssv620585,nssv623188 M 4 4 0 NARG2 CHM,NA10860,NA15510,NA18994 nsv527607 15 58533897 58587201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704069 S 2026 0 1 NARG2,RORA esv998706 15 58580618 58580677 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574256 S 3 0 1 RORA HuRef nsv507784 15 58593094 58599094 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617900,nssv619148,nssv623189,nssv620586 M 4 4 0 RORA CHM,NA10860,NA15510,NA18994 nsv827346 15 58608821 58610194 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441507 S 31 0 1 RORA NA18969 nsv525850 15 58614722 58620311 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702044 S 2026 0 1 RORA nsv522462 15 58620311 58624086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705826 S 2026 0 1 RORA nsv827347 15 58706297 58707197 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432431 S 31 0 1 RORA AK20 esv270651 15 58780017 58780173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502706,essv2506985,essv2510890 M 157 3 0 Samples from several populations that are part of the HapMap project. RORA NA18965,NA19102,NA19116 esv23039 15 58844358 58844850 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20643 S 451 1 0 RORA NA18505 esv1376643 15 58895852 58896112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816572 S 2 0 1 RORA HuRef nsv1556 15 58903782 58924792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7178 S 9 1 0 RORA NA12156 nsv904283 15 58966261 58993284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538365 S 6533 1 0 RORA MS13712 esv267886 15 59003802 59004137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514585,essv2518537,essv2516615,essv2515580,essv2515947,essv2514351,essv2517866,essv2516196,essv2516923,essv2513787,essv2513613 M 157 11 0 Samples from several populations that are part of the HapMap project. RORA NA07347,NA11840,NA12287,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA19143 esv274106 15 59003810 59004135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582018,essv2582344,essv2583073 M 7 3 0 Samples from several populations that are part of the HapMap project. RORA NA12878,NA12891,NA12892 esv1398607 15 59003836 59003836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953853 S 2 1 0 RORA HuRef esv33678 15 59011012 59011954 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93605 S 51 0 1 RORA 21972 nsv529007 15 59024692 59055574 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705717 S 2026 1 0 RORA nsv520362 15 59056537 59065514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682198,nssv698504,nssv663239 M 2026 0 3 RORA nsv520539 15 59078721 59089338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697475 S 2026 0 1 RORA nsv518973 15 59082118 59084249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696441 S 2026 0 1 RORA nsv524148 15 59103494 59105034 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700027 S 2026 0 1 RORA esv273558 15 59116220 59117771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580283,essv2580662 M 7 2 0 Samples from several populations that are part of the HapMap project. RORA NA12891,NA19238 esv270738 15 59116233 59117776 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565793,essv2540715,essv2544042,essv2571024,essv2520313,essv2564410,essv2530784,essv2578731,essv2536968,essv2527392,essv2539836,essv2556335,essv2533998,essv2527417,essv2575024,essv2568644,essv2571478,essv2547961 M 157 18 0 Samples from several populations that are part of the HapMap project. RORA NA07347,NA11829,NA11831,NA11992,NA11993,NA12716,NA12751,NA12873,NA18510,NA18517,NA18522,NA18563,NA18871,NA18916,NA18952,NA19102,NA19147,NA19238 esv22230 15 59138057 59138559 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18925 S 451 0 1 RORA NA11894 esv2520429 15 59297697 59298164 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182410 S 1 0 1 RORA NA18507 esv25643 15 59400612 59403757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19111,esv15138 M 451 2 0 "" NA19129,NA19225 nsv833029 15 59431257 59611991 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451991 S 95 1 0 "" nsv1557 15 59435870 59463043 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4155 S 9 1 0 "" NA12878 dgv750e1 15 59467652 59487950 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1204,essv24037 M 271 0 0 "" NA12873 nsv527951 15 59470226 59486467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704460 S 2026 0 1 "" esv2421687 15 59471497 59485273 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090152,essv5148717,essv5092538,essv5121477,essv5045359,essv5113368,essv5058378,essv5103224,essv5128169,essv5039984,essv5030391,essv5133848,essv5141792,essv5052786,essv5122862,essv5063689,essv5140021,essv5058077,essv5014858,essv5007769 M 1184 0 20 "" NA10850,NA10852,NA10853,NA10864,NA11893,NA11894,NA12045,NA12386,NA12399,NA12832,NA12842,NA12864,NA12873,NA20332,NA20516,NA20525,NA20534,NA20756,NA20809,NA20885 esv29898 15 59474267 59485833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13133 S 451 0 1 "" NA11894 nsv520541 15 59486467 59490071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697476 S 2026 0 1 "" nsv9272 15 59490146 59497873 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22218,nssv21624,nssv22556,nssv25379,nssv20632,nssv22555 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA18564,NA18942,NA18972,NA18975,NA18980,NA19007 esv275153 15 59542017 59548627 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585881,essv2585870 M 1250 1 1 "" esv271715 15 59543404 59549485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512022 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv273635 15 59543429 59549515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580970 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv2631119 15 59570480 59571930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372092 S 1 0 1 "" NA18507 nsv1558 15 59600999 59645735 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7179 S 9 0 1 "" NA12156 esv6868 15 59635099 59635165 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29309 S 1 1 0 "" SJK nsv833030 15 59647100 59849997 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451992 S 95 1 0 "" nsv1559 15 59799558 59811889 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10056 S 9 1 0 "" NA18956 esv1354702 15 59817546 59817546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618035 S 2 1 0 "" HuRef dgv2393n71 15 59910892 60034156 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904285,nsv904284 M 6533 0 2 VPS13C MS21252,SP55878 dgv152n21 15 59917101 60127418 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527451,nsv516639 M 2026 6 0 VPS13C nsv521334 15 59917101 60127418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697942 S 2026 0 1 VPS13C dgv2394n71 15 59933890 60143678 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904288,nsv904294,nsv904286,nsv904293,nsv904290,nsv904287 M 6533 0 13 VPS13C IS31070,IS31118,IS31123,IS31563,IS33580,IS35083,IS35100,IS35181,IS35771,IS36656,IS39944,IS40067,IS41043 dgv2395n71 15 59943982 60074748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904289,nsv904291 M 6533 0 4 VPS13C IS31225,IS31338,IS32615,MS14737 dgv2396n71 15 59965987 60126089 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904296,nsv904292,nsv904297,nsv904298 M 6533 0 16 VPS13C IS30923,IS31067,IS31081,IS31187,IS31286,IS31307,IS31359,IS31543,IS31816,IS31904,IS35027,IS35263,MS18847,MS22104,MS23670,MS25751 nsv457176 15 59965987 60306950 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534421 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2CD4A,C2CD4B,VPS13C HGDP00708 nsv904295 15 59985856 60046929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588554 S 6533 0 1 VPS13C IS38216 nsv471247 15 59989773 60306950 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545734 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2CD4A,C2CD4B,VPS13C HGDP00708 nsv827348 15 59997464 59997920 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432432 S 31 1 0 VPS13C AK20 nsv457177 15 60030489 60088386 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534422 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VPS13C HGDP00798 esv2582405 15 60088368 60089855 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305198 S 1 0 1 VPS13C NA18507 esv273087 15 60105531 60105631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580530 S 7 1 0 Samples from several populations that are part of the HapMap project. VPS13C NA19238 esv270546 15 60105537 60105875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540994,essv2571740,essv2521337,essv2542230,essv2536645,essv2522709,essv2570955,essv2545343,essv2523192,essv2531736,essv2570739,essv2521635,essv2576827,essv2525404,essv2550310,essv2534972,essv2520624,essv2547612,essv2529106,essv2577935,essv2559752,essv2565308,essv2576217,essv2564196,essv2528298,essv2547075,essv2556949,essv2551937,essv2578612,essv2562847,essv2538244,essv2542678,essv2561227,essv2531201,essv2570301,essv2578420,essv2533439,essv2555608,essv2573962,essv2531563,essv2573646,essv2543315,essv2577020,essv2525787,essv2526819,essv2549778,essv2535986,essv2537825,essv2548676,essv2533280,essv2547741,essv2525195,essv2563271,essv2557784 M 157 54 0 Samples from several populations that are part of the HapMap project. VPS13C NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11894,NA11919,NA11920,NA11931,NA11993,NA12003,NA12004,NA12006,NA12044,NA12144,NA12154,NA12156,NA12234,NA12249,NA12716,NA12717,NA12749,NA12761,NA12776,NA12812,NA12814,NA12828,NA12891,NA12892,NA18501,NA18504,NA18510,NA18532,NA18547,NA18550,NA18562,NA18573,NA18593,NA18940,NA18944,NA18945,NA18951,NA18961,NA18964,NA18965,NA18970,NA18980,NA19005,NA19225 esv1275705 15 60116952 60116952 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816400 S 2 1 0 VPS13C HuRef nsv457178 15 60127418 60181616 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534423 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2CD4A,VPS13C HGDP00966 nsv1560 15 60141556 60186596 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7180 S 9 0 1 C2CD4A NA12156 nsv827349 15 60222445 60222922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422360 S 31 0 1 "" NA18547 dgv2397n71 15 60236776 60310017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904299,nsv904300 M 6533 0 2 C2CD4B SP54956,SP55021 nsv514784 15 60248364 60254304 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628242 S 1414 0 1 "" nsv442377 15 60248389 60254287 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv269824 15 60332102 60332187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518499 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv904301 15 60344222 60417907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579885 S 6533 0 1 "" IS35181 nsv904302 15 60387567 60426933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588237 S 6533 0 1 "" IS38176 nsv827350 15 60387741 60401560 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437035 S 31 1 0 "" NA18542 nsv817694 15 60388808 60397435 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417155 S 112 1 0 "" NA18542 esv271314 15 60393316 60393660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517471,essv2517117,essv2518024,essv2515992,essv2517199 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931,NA12872,NA12873,NA18970 nsv833031 15 60409678 60588560 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451993 S 95 0 1 "" nsv512397 15 60411490 60412644 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624986 S 1 0 1 "" 1 nsv820312 15 60493289 60495165 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419350 S 2 1 0 "" AK1 nsv820348 15 60493315 60495062 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421125 S 1 0 1 "" NA10851 dgv438n67 15 60493315 60495142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827352,nsv827351 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv4608 15 60493342 60495245 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27049 S 1 0 1 Single Asian sample YH "" YH esv29792 15 60493374 60495062 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19980 S 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv94933 15 60493388 60495087 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113511 M 24 "" esv8250 15 60493392 60495078 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30691 S 1 0 1 "" SJK nsv457179 15 60574381 60591780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534424 S 1557 0 1 "" 1780862574_A nsv523993 15 60578488 60580422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699849 S 2026 0 1 "" nsv515745 15 60580231 60580422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664651,nssv686158,nssv670044,nssv686311,nssv684223,nssv673921,nssv677749 M 2026 0 7 "" esv34114 15 60659463 60707042 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv827354 15 60687753 60690533 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423771 S 31 0 1 "" NA18999 esv2054160 15 60734917 60735379 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965182 S 1 0 1 TLN2 NA18507 esv2913 15 60734966 60735323 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25354 S 1 0 1 Single Asian sample YH TLN2 YH nsv1561 15 60767847 60795244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2938 S 9 1 0 TLN2 NA18555 nsv833032 15 60802733 60978555 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451994 S 95 0 1 MIR190,TLN2 esv1566775 15 60852568 60852568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166769 S 2 1 0 TLN2 HuRef esv271833 15 60873059 60873395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575821,essv2540754,essv2525947,essv2523314,essv2577341,essv2576516,essv2525323,essv2520693,essv2529167,essv2558544,essv2553541,essv2559458,essv2564277,essv2527213,essv2553051,essv2540588,essv2524429,essv2539780,essv2549431,essv2519765,essv2566323,essv2531229,essv2567823,essv2541789,essv2563649,essv2578453,essv2573033,essv2533535,essv2567069,essv2573777,essv2557767,essv2522384,essv2573546,essv2543101,essv2526840,essv2537860,essv2548955,essv2533135,essv2525104 M 157 39 0 Samples from several populations that are part of the HapMap project. TLN2 NA07000,NA07037,NA07051,NA07357,NA11830,NA11831,NA11918,NA12004,NA12043,NA12154,NA12156,NA12716,NA12749,NA12750,NA12763,NA12776,NA12828,NA18522,NA18542,NA18552,NA18555,NA18563,NA18564,NA18566,NA18572,NA18573,NA18577,NA18592,NA18603,NA18940,NA18942,NA18944,NA18947,NA18951,NA18953,NA18960,NA18964,NA18965,NA19005 nsv904303 15 60886781 60907059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539087 S 6533 0 1 MIR190,TLN2 MS14147 nsv1562 15 60898806 60934203 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4156 S 9 1 0 MIR190,TLN2 NA12878 nsv94552 15 60905110 60905110 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113130 M 24 TLN2 nsv833033 15 60932059 61119643 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451995 S 95 1 0 "" nsv827355 15 60988173 60994674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435431 S 31 0 1 "" NA18942 nsv457180 15 60998928 61014881 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534425 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00928 nsv827356 15 61054281 61056271 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429785,nssv1433995 M 31 0 2 "" NA18526,NA18968 esv268785 15 61074107 61074437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546278,essv2521427,essv2522753,essv2570781,essv2523247,essv2531996,essv2570462,essv2576750,essv2535403,essv2554168,essv2544535,essv2529081,essv2564503,essv2562113,essv2537224,essv2546750,essv2530524,essv2557241,essv2532364,essv2578749,essv2536949,essv2556233,essv2562168,essv2538649,essv2545122,essv2571159,essv2546046,essv2574320,essv2551298,essv2538092,essv2533163,essv2547884,essv2557932 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07347,NA10851,NA11881,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12154,NA12249,NA12287,NA12414,NA12749,NA12751,NA12874,NA12878,NA12892,NA18486,NA18501,NA18505,NA18510,NA18517,NA18871,NA18909,NA19108,NA19172,NA19238,NA19239,NA19240,NA19257 esv274642 15 61074107 61074437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581773,essv2583034,essv2584130,essv2584482,essv2583489 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv428305 15 61119455 61401882 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452737 S 62 1 0 APH1B,LACTB,RAB8B,RPS27L,TPM1 NA19225 nsv904304 15 61147900 61261444 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560056 S 6533 1 0 LACTB,RPS27L,TPM1 MS24274 esv27033 15 61166958 61332515 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15078,esv14861 M 451 1 1 LACTB,RAB8B,RPS27L NA07037,NA19225 nsv904305 15 61232197 61243360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518180 S 6533 0 1 RPS27L SP57469 esv3469 15 61399873 61400446 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25910 S 1 0 1 Single Asian sample YH "" YH esv998603 15 61400176 61400281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578214 S 3 0 1 "" HuRef esv1712713 15 61400199 61400252 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995190 S 2 0 1 "" HuRef esv1383624 15 61400274 61400327 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838750 S 2 0 1 "" HuRef nsv1563 15 61412641 61445848 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7181 S 9 1 0 CA12 NA12156 nsv1564 15 61430791 61440509 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7183 S 9 0 1 CA12 NA12156 nsv457181 15 61450464 61477597 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534426 S 1557 0 1 CA12 1780862040_A esv270212 15 61487399 61487715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494526,essv2507892,essv2500641,essv2508207,essv2502492 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18550,NA18564,NA18571,NA18579,NA18948 esv25763 15 61497390 61498452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17583 S 451 0 1 "" NA18916 nsv94259 15 61550443 61551456 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112837 M 24 "" nsv833034 15 61579923 61736764 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451996 S 95 0 1 FBXL22,HERC1,LOC100130855,USP3 nsv827357 15 61678817 61681234 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433218 S 31 1 0 FBXL22,LOC100130855 NA18972 nsv833035 15 61712341 61886993 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451997 S 95 1 0 HERC1 nsv1565 15 61766018 61783666 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7184 S 9 0 1 HERC1 NA12156 nsv1567 15 61977557 62002023 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7185 S 9 0 1 DAPK2 NA12156 esv1004236 15 61977778 61986228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564996 S 3 0 1 "" HuRef nsv820844 15 61983473 61984602 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421126 S 1 1 0 "" NA10851 nsv827358 15 61983473 61984602 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425339,nssv1429420,nssv1440667,nssv1422177,nssv1436187,nssv1435432,nssv1430164,nssv1430931,nssv1439977 M 31 0 9 "" AK12,AK14,AK16,AK2,NA18537,NA18564,NA18566,NA18942,NA18997 dgv53e180 15 61983473 61984608 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010090,esv988075 M 3 0 1 "" HuRef nsv1568 15 62075590 62132346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10057,nssv2939 M 9 2 0 DAPK2 NA18555,NA18956 nsv1569 15 62112731 62157771 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7186 S 9 0 1 DAPK2,FAM96A NA12156 esv1414761 15 62115584 62115584 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972778 S 2 1 0 DAPK2 HuRef nsv833036 15 62151744 62294441 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451998 S 95 0 1 CSNK1G1,FAM96A,PPIB,SNX1,SNX22 esv273472 15 62198224 62198571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581239 S 7 1 0 Samples from several populations that are part of the HapMap project. SNX1 NA19240 esv2560472 15 62220229 62220280 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391907 S 1 0 1 SNX1 NA18507 nsv827359 15 62227200 62228538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437771 S 31 0 1 "" NA18949 nsv827360 15 62231330 62239356 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432434 S 31 0 1 PPIB,SNX22 AK20 nsv904306 15 62249516 62572511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539547 S 6533 0 1 CSNK1G1,KIAA0101,TRIP4 MS14359 esv2551673 15 62319256 62320680 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220600 S 1 0 1 CSNK1G1 NA18507 nsv512398 15 62417509 62421065 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624987 S 1 0 1 CSNK1G1 1 esv2610243 15 62419647 62421177 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279532 S 1 0 1 CSNK1G1 NA18507 esv996092 15 62419835 62420742 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563465 S 3 0 1 CSNK1G1 HuRef esv2396678 15 62420153 62420761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763950 S 1 0 1 CSNK1G1 NA18507 nsv94545 15 62420232 62420556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113123 M 24 CSNK1G1 esv267794 15 62447992 62448077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513798 S 157 1 0 Samples from several populations that are part of the HapMap project. KIAA0101 NA19143 esv2319425 15 62450973 62451484 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691769 S 1 0 1 KIAA0101 NA18507 esv4243 15 62451118 62451378 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26684 S 1 0 1 Single Asian sample YH KIAA0101 YH nsv94581 15 62451161 62451279 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113159 M 24 KIAA0101 esv1497681 15 62451181 62451300 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310045 S 2 0 1 KIAA0101 HuRef nsv827361 15 62578664 62580910 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432435 S 31 0 1 ZNF609 AK20 nsv526185 15 62601346 62721035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702447 S 2026 0 1 ZNF609 nsv833038 15 62602005 62803294 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1451999 S 95 0 1 OAZ2,ZNF609 esv1105706 15 62656345 62656345 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938797 S 2 1 0 ZNF609 HuRef esv1482397 15 62656482 62656584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161807 S 2 0 1 ZNF609 HuRef nsv827362 15 62679821 62683101 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438456 S 31 1 0 ZNF609 NA18951 nsv94275 15 62720487 62721603 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112853 M 24 ZNF609 esv22620 15 62781418 62782068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11897 S 451 0 1 OAZ2 NA07037 esv28041 15 62784728 62794777 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19150 S 451 0 1 "" NA19225 dgv31n68 15 62785585 63008644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833039,nsv833040 M 95 0 3 ANKDD1A,MIR1272,PIF1,PLEKHO2,RBPMS2 nsv528510 15 62835362 62843096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705117 S 2026 0 1 MIR1272,RBPMS2 nsv904307 15 62846704 62926385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510097 S 6533 0 1 PIF1,PLEKHO2,RBPMS2 SP54956 nsv833041 15 62917711 63049771 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452003,nssv1452004 M 95 0 2 ANKDD1A,PLEKHO2,SPG21 nsv510404 15 63051299 63057299 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622258 S 4 0 1 SPG21 NA10860 nsv904308 15 63135537 63190297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510098 S 6533 0 1 KBTBD13,RASL12,UBAP1L SP54956 nsv827363 15 63153334 63158130 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433220 S 31 1 0 KBTBD13 NA18972 nsv1570 15 63166168 63184784 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7187 S 9 1 0 UBAP1L NA12156 esv1188418 15 63225399 63225485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776265 S 2 0 1 "" HuRef esv2508866 15 63237310 63238640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286256 S 1 0 1 CLPX NA18507 nsv904309 15 63343495 63468854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585984 S 6533 0 1 IGDCC3,IGDCC4,PARP16 IS37646 nsv457182 15 63351648 63413272 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534427 S 1557 0 1 IGDCC3,PARP16 1780854339_A dgv2398n71 15 63351648 63439071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904310,nsv904311 M 6533 0 2 IGDCC3,PARP16 IS37639,MS11726 nsv457183 15 63372790 63417235 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534428 S 1557 0 1 IGDCC3 1780854216_A esv2570925 15 63375925 63379287 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202128 S 1 0 1 "" NA18507 esv28487 15 63377075 63378600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19108 S 451 0 1 "" NA18523 nsv827366 15 63393114 63398996 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438457 S 31 1 0 "" NA18951 dgv2399n71 15 63402609 63468854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904312,nsv904313 M 6533 0 2 IGDCC3,IGDCC4 MS10311,MS19630 esv28479 15 63429431 63435981 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14739 S 451 1 0 IGDCC3 NA11894 nsv515939 15 63468854 63480609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668508,nssv675695,nssv673139,nssv654691,nssv676076,nssv655114,nssv683184,nssv672372,nssv690757,nssv668723,nssv685773,nssv665385,nssv674873,nssv680834,nssv696784 M 2026 0 15 IGDCC4 esv21441 15 63501672 63502717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18869 S 451 0 1 IGDCC4 NA18511 nsv833042 15 63525470 63735787 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452005 S 95 0 1 C15orf44,DPP8,PTPLAD1,SLC24A1 nsv904314 15 63598232 63895598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564154 S 6533 0 1 C15orf44,DENND4A,MIR4511,PTPLAD1,SLC24A1 IS30171 esv22542 15 63602275 63606175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13603,esv14992 M 451 0 15 "" NA07037,NA11894,NA11995,NA12006,NA12156,NA12287,NA12776,NA18502,NA18511,NA18861,NA19099,NA19114,NA19147,NA19225,NA19257 nsv820386 15 63603937 63606589 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421127 S 1 1 0 "" NA10851 nsv827367 15 63604634 63606221 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426140,nssv1428655,nssv1425340 M 31 0 3 "" AK10,AK2,AK4 dgv2400n71 15 63607883 63767061 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904317,nsv904316,nsv904315 M 6533 0 8 C15orf44,DENND4A,PTPLAD1,SLC24A1 IS35789,IS36882,MS10393,MS20286,MS20850,MS21868,MS22146,MS22765 nsv94754 15 63660685 63660852 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113332 M 24 C15orf44 nsv820238 15 63703630 63704277 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419039 S 2 0 1 SLC24A1 AK1 nsv833043 15 63717920 63880817 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452006 S 95 0 1 DENND4A,MIR4511,SLC24A1 nsv904318 15 63745996 63812329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508495 S 6533 0 1 DENND4A,MIR4511 SP54579 nsv819095 15 63747936 63749225 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419225 S 2 0 1 DENND4A AK1 dgv2401n71 15 63774085 63797433 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904320,nsv904319,nsv904321 M 6533 0 3 DENND4A SP52114,SP52925,SP55683 nsv904322 15 63781787 63815179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514469 S 6533 0 1 DENND4A,MIR4511 SP56004 nsv833044 15 63845694 64048438 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452007 S 95 0 1 DENND4A,MEGF11,RAB11A esv5701 15 63865214 63866518 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28142 S 1 0 0 DENND4A SJK esv24542 15 63884839 63890799 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11575 S 451 0 2 "" NA18858,NA19190 nsv904323 15 63923738 64101136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517209 S 6533 0 1 MEGF11,RAB11A SP57208 dgv751e1 15 63967839 64137439 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv320,essv20939 M 271 0 0 MEGF11,MIR4311,RAB11A NA12801 nsv471684 15 63970181 64109461 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550570 S 48 1 0 MEGF11,RAB11A NA10493 nsv509572 15 64049724 64192387 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621010,nssv623677 M 4 2 0 MEGF11,MIR4311 NA15510,NA18994 nsv1571 15 64053031 64061149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7188 S 9 1 0 MEGF11 NA12156 nsv1572 15 64092331 64137449 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7189 S 9 0 1 MEGF11,MIR4311 NA12156 esv5067 15 64119127 64119489 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27508 S 1 0 1 Single Asian sample YH MEGF11 YH esv987792 15 64119138 64119307 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573982 S 3 0 1 MEGF11 HuRef nsv1573 15 64172457 64191012 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2110,nssv5560,nssv9517,nssv10058,nssv4157,nssv10932,nssv6636 M 9 7 0 MEGF11 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129 nsv114 15 64178145 64183508 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv114 S 1 1 0 MEGF11 NA15510 esv994579 15 64180144 64184595 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563650 S 3 1 0 MEGF11 HuRef esv1121128 15 64181653 64181653 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882589 S 2 1 0 MEGF11 HuRef nsv1574 15 64219274 64251569 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6637 S 9 1 0 MEGF11 NA12156 nsv904324 15 64276735 64289669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507059 S 6533 0 1 MEGF11 SP54467 nsv516488 15 64283308 64286940 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668669,nssv674632,nssv696931 M 2026 2 1 MEGF11 esv1421197 15 64291403 64291403 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889668 S 2 1 0 MEGF11 HuRef esv271025 15 64300958 64301333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506779,essv2499387,essv2505573,essv2502878,essv2508561,essv2508824,essv2500333,essv2496429,essv2501134,essv2493582,essv2509093,essv2506108,essv2499884,essv2513256,essv2509361,essv2507427,essv2501507,essv2497690,essv2502222,essv2503982 M 157 20 0 Samples from several populations that are part of the HapMap project. MEGF11 NA07037,NA11918,NA11994,NA12154,NA12156,NA12717,NA12878,NA12891,NA18510,NA18516,NA18517,NA18522,NA18523,NA18562,NA18907,NA18909,NA18912,NA19093,NA19147,NA19257 esv273604 15 64300981 64301319 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581796,essv2582467 M 7 2 0 Samples from several populations that are part of the HapMap project. MEGF11 NA12878,NA12891 nsv833045 15 64374640 64539811 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452008 S 95 1 0 DIS3L,MAP2K1,SCARNA14,TIPIN esv2552740 15 64420482 64422219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223278 S 1 0 1 TIPIN NA18507 esv2223439 15 64420674 64421361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539150 S 1 0 1 TIPIN NA18507 esv5372 15 64420825 64421243 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27813 S 1 0 1 Single Asian sample YH TIPIN YH esv6981 15 64420862 64421185 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29422 S 1 0 1 TIPIN SJK esv1418932 15 64420866 64421187 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160662 S 2 0 1 TIPIN HuRef esv1006740 15 64420872 64421192 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578393 S 3 0 1 TIPIN HuRef esv2590993 15 64420875 64421195 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312702 S 1 0 1 TIPIN NA18507 nsv94401 15 64443515 64445989 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112979 M 24 "" esv1595826 15 64589232 64589232 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856387 S 2 1 0 ZWILCH HuRef nsv827368 15 64664679 64665469 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429796,nssv1428657,nssv1437037,nssv1422957 M 31 4 0 "" AK10,NA18542,NA18552,NA18968 nsv820917 15 64664679 64665735 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421128 S 1 0 1 "" NA10851 nsv827369 15 64664679 64665735 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426142,nssv1422384,nssv1422178 M 31 0 3 "" AK4,NA18547,NA18997 nsv94993 15 64664702 64665468 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113571 M 24 "" nsv904325 15 64853617 64912431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537135 S 6533 0 1 SMAD6 MS13095 nsv827370 15 64858806 64861427 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433221 S 31 1 0 SMAD6 NA18972 esv2527465 15 64870211 64871662 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316034 S 1 0 1 "" NA18507 esv2206610 15 64870646 64871317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4991730 S 1 0 1 "" NA18507 nsv904326 15 64871739 64930906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573904 S 6533 0 1 "" IS33504 nsv522717 15 64880685 64883712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698347 S 2026 0 1 "" nsv520187 15 64882683 64887905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675084,nssv683686,nssv687399,nssv685417,nssv661512,nssv702377 M 2026 0 6 "" esv24807 15 64893151 64914091 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15362 S 451 1 0 "" NA12239 nsv94295 15 64944042 64944042 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112873 M 24 "" nsv1575 15 64950592 64996799 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10059 S 9 0 1 "" NA18956 esv26635 15 64964630 64975104 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18481 S 451 1 0 "" NA12878 esv2422426 15 64972986 65060948 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161515 S 181 0 1 "" ND01580 esv1990476 15 65077709 65078182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823079 S 1 0 1 "" NA18507 esv268405 15 65081879 65082231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514604,essv2514740,essv2518584,essv2514990,essv2515756,essv2517952,essv2517688,essv2513937,essv2518413 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12234,NA12287,NA12812,NA12815,NA12872,NA12878,NA19143,NA19240 esv274514 15 65081879 65082231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581621,essv2581071 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv904327 15 65089693 65157499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557820 S 6533 0 1 SMAD3 MS22898 nsv507785 15 65155583 65161583 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623190 S 4 1 0 SMAD3 NA18994 nsv512399 15 65191286 65192951 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624989 S 1 0 1 SMAD3 1 esv1009806 15 65191518 65192886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563913 S 3 0 1 SMAD3 HuRef esv1476959 15 65191727 65192658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100156 S 2 0 1 SMAD3 HuRef nsv94737 15 65191729 65192658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113315 M 24 SMAD3 nsv457187 15 65201479 65221402 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534430 S 1557 0 1 SMAD3 NINDS_197 nsv819309 15 65281407 65282078 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419049 S 2 0 1 AAGAB AK1 esv3519 15 65321492 65321988 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25960 S 1 0 1 Single Asian sample YH AAGAB YH esv999184 15 65321523 65321856 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574144 S 3 0 1 AAGAB HuRef esv8158 15 65321535 65321862 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30599 S 1 0 1 AAGAB SJK nsv827371 15 65334065 65334538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432436 S 31 0 1 AAGAB,IQCH AK20 nsv827372 15 65367970 65370187 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422179 S 31 0 1 IQCH NA18997 esv271637 15 65372957 65373171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496177,essv2507133 M 157 2 0 Samples from several populations that are part of the HapMap project. IQCH NA18511,NA18870 esv268324 15 65431920 65432005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517046,essv2514978,essv2519479 M 157 3 0 Samples from several populations that are part of the HapMap project. IQCH NA07346,NA11931,NA12812 nsv827373 15 65597893 65599489 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422180 S 31 0 1 LOC100506686 NA18997 nsv827374 15 65655402 65656458 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427072,nssv1439291,nssv1422181,nssv1441509,nssv1436188,nssv1440668,nssv1430165,nssv1430932,nssv1422397,nssv1437038,nssv1424573 M 31 0 11 MAP2K5 AK14,AK16,AK6,NA18542,NA18547,NA18564,NA18566,NA18582,NA18969,NA18973,NA18997 esv27062 15 65655646 65656282 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16836 S 451 0 2 MAP2K5 NA12044,NA18861 esv2571443 15 65688374 65689408 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253303 S 1 1 0 MAP2K5 NA18507 nsv94879 15 65688807 65688866 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113457 M 24 MAP2K5 esv1090385 15 65688896 65688986 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068726 S 2 0 1 MAP2K5 HuRef esv1001492 15 65688901 65688990 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578242 S 3 0 1 MAP2K5 HuRef nsv1576 15 65757034 65802127 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7190 S 9 0 1 MAP2K5 NA12156 esv2352022 15 65850331 65850786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924971 S 1 0 1 MAP2K5 NA18507 esv991898 15 65850516 65850571 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566793 S 3 0 1 MAP2K5 HuRef esv1065122 15 65850553 65850609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803276 S 2 0 1 MAP2K5 HuRef nsv827375 15 65898393 65909826 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433222 S 31 1 0 SKOR1 NA18972 nsv1578 15 65907191 65941777 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4158 S 9 1 0 SKOR1 NA12878 nsv526037 15 65944935 65953984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702269 S 2026 0 1 "" esv3121 15 65984343 65984881 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25562 S 1 0 1 Single Asian sample YH "" YH nsv94298 15 66044049 66046314 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112876 M 24 "" esv3196 15 66049351 66052017 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25637 S 1 0 1 Single Asian sample YH "" YH esv7366 15 66049393 66051989 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29807 S 1 0 1 "" SJK nsv827377 15 66050572 66051595 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426143,nssv1441510,nssv1431656,nssv1440669,nssv1422958,nssv1434719,nssv1433996 M 31 0 7 "" AK18,AK4,NA18526,NA18552,NA18564,NA18570,NA18969 nsv1579 15 66085354 66110257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1256 S 9 1 0 "" NA19240 nsv517512 15 66106178 66212319 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665203,nssv652239 M 2026 2 0 PIAS1 nsv521762 15 66136947 66258945 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694530 S 2026 1 0 PIAS1 nsv1580 15 66192717 66217802 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2111 S 9 0 1 PIAS1 NA18555 esv1003872 15 66211239 66217247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563951 S 3 0 1 PIAS1 HuRef esv2596512 15 66212678 66217017 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360957 S 1 0 1 PIAS1 NA18507 esv2068352 15 66212867 66216181 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830185 S 1 0 1 PIAS1 NA18507 esv2640694 15 66212941 66217893 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296069 S 1 0 1 PIAS1 NA18507 nsv512400 15 66212982 66216277 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624990 S 1 0 1 PIAS1 1 esv2986 15 66213037 66216121 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25427 S 1 0 1 Single Asian sample YH PIAS1 YH esv994874 15 66213056 66215980 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566671 S 3 0 1 PIAS1 HuRef nsv498848 15 66213056 66216000 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585709 S 9 0 1 PIAS1 esv8835 15 66213073 66215977 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31276 S 1 0 1 PIAS1 SJK esv1172926 15 66213074 66215999 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269296 S 2 0 1 PIAS1 HuRef nsv94922 15 66213075 66215999 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113500 M 24 PIAS1 nsv1581 15 66252362 66283615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2112 S 9 1 0 CALML4,PIAS1 NA18555 dgv752e1 15 66325126 66601717 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv79,esv222 M 271 0 0 FEM1B,ITGA11 NA18991 esv33024 15 66378913 66416071 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99866 S 51 1 0 ITGA11 22086 esv999038 15 66392156 66401473 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563743 S 3 0 1 ITGA11 HuRef nsv471248 15 66440611 66456293 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545735 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITGA11 HGDP00920 nsv9273 15 66449997 66452336 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22190,nssv25788,nssv20261 M 31 0 3 Samples from several populations that are part of the HapMap project. ITGA11 NA12872,NA18853,NA19132 nsv1582 15 66472020 66477654 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1258 S 9 1 0 ITGA11 NA19240 esv1007510 15 66474823 66475063 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563837 S 3 1 0 ITGA11 HuRef esv1045367 15 66475065 66475065 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251306 S 2 1 0 ITGA11 HuRef esv1196404 15 66476934 66477000 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315133 S 2 0 1 ITGA11 HuRef esv1977419 15 66500208 66500790 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765900 S 1 0 1 ITGA11 NA18507 esv5360 15 66500361 66500721 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27801 S 1 0 1 Single Asian sample YH ITGA11 YH esv8981 15 66500369 66500610 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31422 S 1 0 1 ITGA11 SJK esv29416 15 66518347 66519672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17534 S 451 0 1 "" NA12044 nsv519824 15 66542892 66543755 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658947,nssv671998,nssv677611 M 2026 0 3 "" nsv1583 15 66550240 66583411 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2113 S 9 1 0 "" NA18555 nsv529008 15 66573339 66615540 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705718 S 2026 0 1 "" nsv516489 15 66592483 66615540 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682488,nssv704070,nssv662948,nssv668670,nssv658971 M 2026 4 1 "" nsv515835 15 66680043 66684126 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664946,nssv683049 M 2026 0 2 CORO2B nsv833046 15 66718767 66920813 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452009,nssv1452010 M 95 0 2 ANP32A,ANP32A-IT1,CORO2B,MIR4312 esv2487574 15 66769818 66771353 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258895 S 1 0 1 CORO2B NA18507 nsv457189 15 66774006 66797683 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534431 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CORO2B HGDP01189 esv272597 15 66779654 66779837 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580827 S 7 1 0 Samples from several populations that are part of the HapMap project. CORO2B NA19238 esv270935 15 66779741 66779950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510738,essv2503057,essv2493655,essv2505173,essv2500982,essv2507273,essv2507356,essv2506630,essv2498677,essv2496926,essv2512021 M 157 11 0 Samples from several populations that are part of the HapMap project. CORO2B NA18501,NA18507,NA18517,NA18853,NA18856,NA18870,NA18912,NA19108,NA19138,NA19190,NA19238 esv33989 15 66789809 66802029 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98908,essv100799,essv99799,essv93220 M 51 4 0 CORO2B 21606,21656,22086,22170 esv2548805 15 66835927 66837562 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244388 S 1 0 1 "" NA18507 esv2317272 15 66836433 66837148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517081 S 1 0 1 "" NA18507 esv4305 15 66836489 66837131 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26746 S 1 0 1 Single Asian sample YH "" YH nsv827378 15 66895966 66900246 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433223 S 31 1 0 ANP32A NA18972 nsv507786 15 66959403 66965403 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623191,nssv620588,nssv619149 M 4 3 0 "" NA10860,NA15510,NA18994 esv9665 15 66974706 66974780 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32106 S 1 1 0 "" SJK nsv1584 15 67013899 67023366 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7191 S 9 0 1 NOX5,SPESP1 NA12156 esv33141 15 67076427 67076510 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92722,essv97735 M 51 2 0 NOX5 21944,22278 esv33333 15 67093975 67094246 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93544 S 51 1 0 NOX5 22128 esv33369 15 67094663 67097566 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99925 S 51 1 0 NOX5 22086 nsv521203 15 67103257 67103840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685092,nssv687957,nssv693097,nssv685040 M 2026 0 4 NOX5 esv275002 15 67116869 67124717 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585846,essv2585398 M 1250 1 1 NOX5 nsv517185 15 67217070 67340176 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669552,nssv672211,nssv663670,nssv653686,nssv666995,nssv659330,nssv665611,nssv673707,nssv697943,nssv680699,nssv656918,nssv665386,nssv651813 M 2026 12 1 GLCE nsv904328 15 67236901 67273270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499161,nssv1517013 M 6533 0 2 GLCE SP50027,SP57027 esv2476720 15 67287459 67288963 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228402 S 1 0 1 GLCE NA18507 esv23604 15 67290651 67309705 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16095 S 451 1 0 GLCE NA11894 esv2264721 15 67319460 67319870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602079 S 1 0 1 GLCE NA18507 esv989223 15 67345735 67364116 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563514 S 3 0 0 GLCE HuRef esv1316872 15 67365410 67365410 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922943 S 2 1 0 "" HuRef esv2343800 15 67379784 67380261 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919521 S 1 0 1 PAQR5 NA18507 nsv904329 15 67399889 67457032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526699 S 6533 0 1 PAQR5 SP57726 esv5119 15 67401381 67402567 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27560 S 1 0 1 Single Asian sample YH PAQR5 YH nsv827379 15 67402047 67402491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428658,nssv1435433 M 31 0 2 PAQR5 AK10,NA18942 dgv753e1 15 67421806 67579253 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv674,essv16864,essv13436,essv5818,essv22565,essv7033,essv6035,essv18583,essv7609,essv17609,essv3351,essv7104,essv7312,essv6318,essv20378,essv3999,essv6218,essv7811,esv8,essv7697,essv13936,essv21786,essv9367,essv8334,essv11863,essv18121,essv10888,essv22145,essv11522,essv18310,essv3751,essv23651 M 271 0 0 KIF23,PAQR5,RPLP1 NA07348,NA10830,NA10846,NA10857,NA10863,NA11993,NA12234,NA12239,NA12753,NA18537,NA18545,NA18558,NA18566,NA18570,NA18571,NA18609,NA18612,NA18633,NA18636,NA18853,NA18854,NA18858,NA18945,NA18961,NA18970,NA18975,NA19173,NA19192,NA19205,NA19209,NA19221 esv2092169 15 67434530 67434936 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801373 S 1 0 1 PAQR5 NA18507 nsv512401 15 67451572 67453487 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624991 S 1 0 1 PAQR5 1 nsv94997 15 67462751 67462841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113575 M 24 PAQR5 esv1010893 15 67463808 67463869 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576146 S 3 0 1 PAQR5 HuRef esv1243241 15 67463899 67463961 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641815 S 2 0 1 PAQR5 HuRef nsv520964 15 67504090 67581007 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697711 S 2026 1 0 KIF23,RPLP1 nsv1585 15 67523060 67549506 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10933 S 9 1 0 KIF23,RPLP1 NA15510 nsv1586 15 67576700 67608388 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10060 S 9 1 0 "" NA18956 nsv1587 15 67644339 67660958 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7192 S 9 1 0 LOC145837 NA12156 nsv526222 15 67644716 67645616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702487 S 2026 0 1 LOC145837 nsv528922 15 67645191 67645616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705610 S 2026 0 1 LOC145837 nsv1589 15 67662482 67696149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4159 S 9 1 0 "" NA12878 nsv1590 15 67797233 67828911 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4161 S 9 1 0 "" NA12878 esv2598033 15 67855054 67856597 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241683 S 1 0 1 "" NA18507 esv270894 15 67872672 67872817 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494161,essv2493174,essv2509750,essv2498569 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18508,NA18858 nsv523368 15 67898627 67928959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699117 S 2026 0 1 C15orf50 nsv833047 15 67942185 68102408 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452012,nssv1452011,nssv1452013,nssv1452014 M 95 4 0 "" nsv528784 15 67977049 67982072 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705451 S 2026 1 0 "" nsv1591 15 67983110 68027376 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2114 S 9 0 1 "" NA18555 nsv518046 15 67998960 68003136 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695457 S 2026 0 1 "" nsv527821 15 68033803 68036014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704316 S 2026 0 1 "" esv28861 15 68042761 68045038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12379 S 451 0 1 "" NA19147 nsv827380 15 68174253 68180301 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433224 S 31 1 0 TLE3 NA18972 esv25961 15 68174828 68178744 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19171 S 451 0 1 TLE3 NA18511 esv2457787 15 68195334 68196446 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180640 S 1 1 0 "" NA18507 esv272828 15 68195648 68195911 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580410,essv2579979 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv268597 15 68195659 68195987 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576062,essv2571819,essv2521294,essv2526124,essv2542213,essv2568118,essv2545334,essv2523201,essv2531780,essv2570391,essv2521651,essv2576805,essv2525411,essv2535293,essv2554122,essv2520596,essv2529122,essv2558681,essv2578042,essv2553844,essv2559426,essv2565279,essv2520046,essv2564236,essv2555039,essv2530841,essv2537701,essv2528583,essv2546856,essv2520973,essv2557507,essv2557198,essv2532271,essv2569576,essv2550128,essv2558920,essv2536852,essv2569829,essv2527137,essv2561602,essv2544812,essv2541212,essv2538214,essv2524651,essv2565143,essv2534591,essv2539855,essv2549527,essv2519577,essv2559905,essv2532746,essv2541511,essv2570215,essv2563726,essv2535740,essv2572201,essv2559107,essv2566745,essv2542058,essv2550885,essv2569177,essv2556333,essv2528067,essv2539459,essv2533935,essv2578228,essv2573133,essv2567145,essv2566367,essv2527447,essv2557716,essv2555867,essv2534315,essv2543336,essv2571944,essv2525792,essv2526783,essv2529547,essv2575250,essv2538549,essv2526712,essv2560743,essv2530227,essv2568697,essv2560276,essv2549943,essv2571355,essv2545958,essv2574210,essv2551212,essv2535929,essv2537993,essv2549067,essv2533216,essv2554648,essv2547730,essv2525070,essv2563269,essv2557798 M 157 99 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11840,NA11894,NA11918,NA11919,NA11995,NA12003,NA12004,NA12006,NA12044,NA12144,NA12154,NA12156,NA12249,NA12287,NA12716,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18505,NA18508,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18526,NA18545,NA18547,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18576,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18947,NA18948,NA18952,NA18953,NA18956,NA18959,NA18965,NA18973,NA18980,NA19005,NA19093,NA19102,NA19108,NA19114,NA19116,NA19141,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv1593726 15 68195684 68195684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047417 S 2 1 0 "" HuRef esv1527072 15 68209766 68209766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874150 S 2 1 0 "" HuRef nsv524277 15 68230439 68238590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700176 S 2026 0 1 "" esv275185 15 68249052 68258317 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585420,essv2585248 M 1250 1 1 "" nsv428306 15 68251561 68474505 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452739 S 62 0 1 "" HGDP01094 nsv526608 15 68262754 68264958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702928 S 2026 0 1 "" dgv320n27 15 68262754 68277704 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457191,nsv457190 M 1557 0 2 "" HGDP01153,HGDP01163 esv25863 15 68302429 68302876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14490 S 451 0 1 "" NA07037 nsv457192 15 68320486 68385295 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534434 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01094 nsv471250 15 68329074 68385295 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545738,nssv545737,nssv545736 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00465,HGDP00985,HGDP01094 esv1007647 15 68333853 68345959 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565078 S 3 0 1 "" HuRef nsv509573 15 68341110 68368451 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621011 S 4 1 0 "" NA15510 nsv507787 15 68361233 68367233 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619150,nssv617901,nssv623192 M 4 3 0 "" CHM,NA10860,NA18994 esv2642953 15 68364297 68365116 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192805 S 1 1 0 "" NA18507 esv1151207 15 68364578 68364578 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345484 S 2 1 0 "" HuRef esv27775 15 68382236 68382705 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13269 S 451 1 0 "" NA11894 esv1216662 15 68464188 68464260 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648371 S 2 0 1 "" HuRef nsv509574 15 68496850 68694585 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623678 S 4 1 0 "" NA18994 esv269889 15 68534329 68534678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519337,essv2516978,essv2514754,essv2516439,essv2515558,essv2517975,essv2516066,essv2514225,essv2517616,essv2519022,essv2513982,essv2518214,essv2513580 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA11931,NA12234,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA19141,NA19143,NA19240 esv273292 15 68534329 68534678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581635,essv2581070 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv1592 15 68541088 68586197 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7193 S 9 0 1 "" NA12156 esv999567 15 68558964 68559083 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584887 S 3 0 1 "" HuRef esv1568247 15 68558979 68559099 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150472 S 2 0 1 "" HuRef esv990752 15 68558994 68559143 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573740 S 3 0 1 "" HuRef nsv94615 15 68610859 68610859 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113193 M 24 "" nsv1593 15 68621050 68656398 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1259 S 9 1 0 "" NA19240 esv1005175 15 68624496 68626772 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564651 S 3 1 0 "" HuRef nsv833049 15 68661842 68766630 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452015 S 95 0 1 UACA esv1401879 15 68664903 68665144 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851952 S 2 0 1 "" HuRef esv259865 15 68716851 68717142 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394763,essv2399040,essv2398477,essv2399100,essv2401141,essv2399703,essv2397304,essv2396961,essv2395573,essv2397713,essv2397824,essv2396636,essv2398808,essv2400441,essv2398975,essv2399407,essv2400085,essv2394686,essv2397923,essv2395345,essv2394421,essv2397505,essv2398164,essv2397141,essv2397723,essv2394581,essv2398374,essv2395180,essv2399810,essv2396433,essv2399693,essv2397225,essv2395934,essv2397030,essv2400504 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11894,NA11920,NA11931,NA12828,NA12878,NA12892,NA18501,NA18502,NA18505,NA18526,NA18582,NA18592,NA18603,NA18858,NA18861,NA18870,NA18907,NA18916,NA18943,NA18947,NA18949,NA18951,NA18956,NA18965,NA19093,NA19108,NA19129,NA19138,NA19210,NA19225,NA19238,NA19239,NA19240 esv259623 15 68716858 68717129 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394191,essv2393842,essv2393641,essv2394047,essv2394274 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1290996 15 68716963 68716963 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105966 S 2 1 0 "" HuRef nsv1594 15 68724650 68757094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5561 S 9 1 0 UACA NA19129 nsv524129 15 68754608 68770096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700007 S 2026 0 1 UACA nsv817696 15 68754608 68783807 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417476 S 112 1 0 UACA NA18960 nsv526172 15 68767370 68823780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702433 S 2026 0 1 UACA nsv1595 15 68792505 68833994 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5562,nssv1260 M 9 0 2 UACA NA19129,NA19240 nsv436199 15 68808037 68816128 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465523 S 2 0 1 Samples from several populations that are part of the HapMap project. UACA NA18505 nsv512402 15 68808206 68814647 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624992 S 1 0 1 UACA 1 nsv498849 15 68808893 68814577 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585710 S 9 0 1 UACA nsv94433 15 68808894 68814562 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113011 M 24 UACA esv7243 15 68808895 68814564 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29684 S 1 0 1 UACA SJK nsv9274 15 68814996 68840868 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20059 S 31 0 1 Samples from several populations that are part of the HapMap project. UACA NA18572 dgv754e1 15 68815452 68834724 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6522,esv1041 M 271 0 0 UACA NA18572 nsv94637 15 68851911 68853938 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113215 M 24 "" esv274265 15 68940745 68940851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580936 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270549 15 68940773 68941119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518777,essv2515353,essv2518561,essv2514922,essv2515664,essv2516191,essv2516840,essv2517251,essv2513646 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12045,NA12249,NA12287,NA12812,NA12815,NA12891,NA12892,NA18970 dgv153n21 15 68959752 69154066 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521336,nsv523555 M 2026 0 2 LRRC49,THAP10 nsv827381 15 68971235 68972677 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432437 S 31 0 1 LRRC49,THAP10 AK20 esv2515154 15 68999067 69000538 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240587 S 1 0 1 LRRC49 NA18507 nsv457193 15 69023413 69154066 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534435 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRC49 HGDP00023 nsv904330 15 69038595 69116692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529478 S 6533 1 0 LRRC49 SP81553 nsv904331 15 69054098 69082246 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514175 S 6533 1 0 LRRC49 SP55966 esv267653 15 69138318 69138403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519285 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11894 nsv1596 15 69205084 69238505 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7194 S 9 0 1 THSD4 NA12156 nsv471251 15 69219030 69491374 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545739 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations THSD4 HGDP01030 nsv904332 15 69219404 69320285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535844 S 6533 0 1 THSD4 MS12509 nsv457194 15 69222676 69488714 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534436 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations THSD4 HGDP01030 nsv469595 15 69245578 69413360 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649710 M 265 0 16 Samples from several populations that are part of the HapMap project. THSD4 esv27935 15 69261498 69265201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12604 S 451 0 2 THSD4 NA12044,NA12287 nsv904333 15 69325682 69430841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533650 S 6533 0 1 THSD4 MS11249 nsv1597 15 69334822 69369539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2940 S 9 1 0 THSD4 NA18555 dgv154n21 15 69368644 69370467 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520109,nsv522384 M 2026 0 4 THSD4 nsv516900 15 69404788 69418974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654753,nssv680189 M 2026 0 2 THSD4 nsv524913 15 69412176 69455566 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700925 S 2026 1 0 THSD4 esv275141 15 69429369 69431528 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585489,essv2585441 M 1250 1 1 THSD4 nsv1598 15 69438585 69460828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4162 S 9 1 0 THSD4 NA12878 nsv1600 15 69472915 69508151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4163,nssv6638,nssv1261 M 9 0 3 THSD4 NA12156,NA12878,NA19240 nsv510664 15 69486902 69507958 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620085 S 4 0 1 THSD4 NA15510 esv27393 15 69495065 69501715 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18615 S 451 0 10 THSD4 NA07037,NA11894,NA11931,NA11995,NA12156,NA12239,NA12414,NA15510,NA18858,NA19190 esv2442314 15 69495069 69501385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188361 S 1 0 1 THSD4 NA18507 nsv512403 15 69495355 69500836 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624993 S 1 0 1 THSD4 1 esv2419801 15 69495490 69500922 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674843 S 1 0 1 THSD4 NA18507 esv1000075 15 69495565 69501080 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565550 S 3 0 1 THSD4 HuRef nsv435660 15 69495659 69502670 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465524 S 2 0 1 THSD4 NA15510 esv7639 15 69495661 69500745 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30080 S 1 0 1 THSD4 SJK nsv498850 15 69495663 69500745 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585711 S 9 0 1 THSD4 esv2467997 15 69498169 69501392 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360081 S 1 0 1 THSD4 NA18507 nsv521742 15 69507998 69518209 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694506 S 2026 1 0 THSD4 esv1153445 15 69520731 69520731 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695279 S 2 1 0 THSD4 HuRef nsv904334 15 69524430 69964713 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540337 S 6533 1 0 MYO9A,NR2E3,THSD4 MS14805 nsv525831 15 69630134 69635366 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702021 S 2026 1 0 THSD4 nsv833050 15 69635673 69767946 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452016 S 95 1 0 THSD4 esv2244526 15 69643838 69644271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656569 S 1 0 1 THSD4 NA18507 esv1129747 15 69644037 69644090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592921 S 2 0 1 THSD4 HuRef nsv528698 15 69647900 69663064 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705344 S 2026 1 0 THSD4 nsv511552 15 69666107 69669679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626176 S 1 0 1 THSD4 1 nsv512404 15 69668578 69670110 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624994 S 1 0 1 THSD4 1 esv21574 15 69668658 69669934 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12778,esv12723 M 451 36 0 THSD4 NA06985,NA07037,NA11894,NA11993,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820714 15 69668658 69669934 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421129 S 1 0 1 THSD4 NA10851 nsv827382 15 69668658 69669934 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441511,nssv1429807,nssv1426144,nssv1429421,nssv1435434,nssv1433225,nssv1422410,nssv1440670,nssv1430166,nssv1422959,nssv1423772,nssv1437772,nssv1430297 M 31 0 13 THSD4 AK12,AK14,AK4,NA18547,NA18552,NA18564,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18999 esv3043 15 69672373 69672945 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25484 S 1 0 1 Single Asian sample YH THSD4 YH esv996751 15 69672530 69672867 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583055 S 3 0 1 THSD4 HuRef esv8480 15 69672534 69672833 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30921 S 1 0 1 THSD4 SJK esv1756938 15 69672535 69672873 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158537 S 2 0 1 THSD4 HuRef nsv520258 15 69688282 69689872 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662142,nssv685728 M 2026 2 0 THSD4 esv2098669 15 69778409 69779032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591256 S 1 0 1 THSD4 NA18507 esv4992 15 69778580 69778908 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27433 S 1 0 1 Single Asian sample YH THSD4 YH esv2425447 15 69803119 69804861 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281090 S 1 0 1 THSD4 NA18507 nsv512405 15 69803239 69804980 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624995 S 1 0 1 THSD4 1 esv26768 15 69803536 69804543 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17697 S 451 1 0 THSD4 NA19147 esv2347402 15 69804152 69804753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974182 S 1 0 1 THSD4 NA18507 esv8355 15 69804241 69804663 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30796 S 1 0 1 THSD4 SJK esv1295892 15 69804361 69804721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006131 S 2 0 1 THSD4 HuRef nsv904335 15 69805523 69851773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526967 S 6533 0 1 THSD4 SP58026 nsv507788 15 69811068 69817068 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617902,nssv619151,nssv620589 M 4 3 0 THSD4 CHM,NA10860,NA15510 esv7279 15 69836873 69836931 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29720 S 1 1 0 THSD4 SJK esv1002043 15 69836933 69836933 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569038 S 3 1 0 THSD4 HuRef esv1139987 15 69836934 69836934 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285167 S 2 1 0 THSD4 HuRef nsv94608 15 69836935 69836935 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113186 M 24 THSD4 nsv827383 15 69887098 69894293 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432438 S 31 0 1 NR2E3 AK20 esv2531029 15 69911334 69912869 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209236 S 1 0 1 MYO9A NA18507 nsv516871 15 69913088 70112649 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694825,nssv692778,nssv658146,nssv696349,nssv702292,nssv654609 M 2026 1 5 MYO9A nsv904336 15 69932991 70116960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552873 S 6533 0 1 MYO9A MS19634 nsv457195 15 69964713 70037795 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534437 S 1557 0 1 MYO9A NINDS_146 esv2331045 15 70004368 70004802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880765 S 1 0 1 MYO9A NA18507 nsv510405 15 70006420 70012420 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618415,nssv621427,nssv622259 M 4 0 3 MYO9A CHM,NA10860,NA15510 nsv457199 15 70048439 70089721 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534439 S 1557 0 1 MYO9A NINDS_222 nsv457200 15 70048439 70112649 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534440 S 1557 0 1 MYO9A NINDS_223 nsv457201 15 70071701 70116960 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534441 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYO9A HGDP01355 nsv833051 15 70102525 70295483 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452017 S 95 1 0 GRAMD2,MYO9A,PKM2,SENP8 esv28860 15 70140355 70182342 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14544,esv11550 M 451 33 0 MYO9A NA06985,NA07045,NA11894,NA11993,NA11995,NA12156,NA12239,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv904337 15 70148996 70177569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513001 S 6533 0 1 MYO9A SP55663 nsv510665 15 70161916 70194602 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617422 S 4 0 1 MYO9A,SENP8 CHM nsv512406 15 70172560 70175238 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624996 S 1 0 1 MYO9A 1 nsv821198 15 70172981 70175179 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421130 S 1 0 1 MYO9A NA10851 nsv511557 15 70173229 70195123 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626182 S 1 0 1 MYO9A,SENP8 1 nsv1601 15 70336939 70372230 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5563 S 9 0 1 CELF6,PARP6 NA19129 esv1918298 15 70355161 70355618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691027 S 1 0 1 "" NA18507 esv4690 15 70355242 70355579 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27131 S 1 0 1 Single Asian sample YH "" YH esv9307 15 70355285 70355497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31748 S 1 0 1 "" SJK esv1016655 15 70355320 70355512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092414 S 2 0 1 "" HuRef esv28418 15 70358745 70362892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16227 S 451 0 8 "" NA18505,NA18508,NA18909,NA19099,NA19129,NA19190,NA19225,NA19240 nsv7267 15 70410236 70441749 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1262 S 9 0 0 HEXA NA19240 esv2603997 15 70426234 70427250 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385472 S 1 1 0 HEXA NA18507 nsv521971 15 70453478 70465792 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694740 S 2026 1 0 C15orf34,HEXA nsv469704 15 70456428 70640981 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649725 M 265 0 3 Samples from several populations that are part of the HapMap project. ARIH1,C15orf34,TMEM202 esv1069063 15 70476215 70476215 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928795 S 2 1 0 "" HuRef esv1321783 15 70504982 70505049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090247 S 2 0 1 "" HuRef nsv827384 15 70552276 70555663 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433226 S 31 1 0 ARIH1 NA18972 dgv755e1 15 70606839 70907613 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12598,esv389,essv23012,essv23926 M 271 0 0 ADPGK,ARIH1,BBS4,GOLGA6B,HIGD2B,LOC100287559,MIR630 NA12812,NA12814,NA19098 nsv428307 15 70606839 70907613 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452740 S 62 1 0 ADPGK,ARIH1,BBS4,GOLGA6B,HIGD2B,LOC100287559,MIR630 NA19225 nsv521972 15 70646824 70665826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694741 S 2026 1 0 ARIH1 esv27409 15 70708315 70753183 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19973 S 451 8 0 GOLGA6B NA07045,NA11894,NA12006,NA12239,NA18502,NA18511,NA18909,NA19225 nsv821020 15 70708315 70753183 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421131 S 1 1 0 GOLGA6B NA10851 nsv9275 15 70725990 70750328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22883,nssv25810 M 31 0 2 Samples from several populations that are part of the HapMap project. GOLGA6B NA19132,NA19173 esv1004072 15 70726897 70750213 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586240 S 3 1 0 GOLGA6B HuRef nsv94389 15 70767826 70771698 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112967 M 24 BBS4 nsv1602 15 70929694 70952477 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7195 S 9 1 0 "" NA12156 esv4693 15 70939568 70942528 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27134 S 1 0 1 Single Asian sample YH "" YH nsv521475 15 71037538 71050458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698087 S 2026 0 1 "" nsv528233 15 71071234 71074205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704795 S 2026 0 1 "" nsv94939 15 71082778 71088221 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113517 M 24 "" nsv904338 15 71100744 71270771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585271 S 6533 0 1 NEO1 IS37393 nsv517966 15 71136686 71275806 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695378 S 2026 1 0 NEO1 nsv525462 15 71136686 71350548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701590 S 2026 0 1 NEO1 dgv2402n71 15 71162900 71270771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904341,nsv904339 M 6533 0 2 NEO1 IS38463,MS19634 dgv2403n71 15 71162900 71311682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904340,nsv904342 M 6533 0 2 NEO1 IS33507,MS11467 nsv904343 15 71183813 71562096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508747 S 6533 1 0 C15orf60,HCN4,NEO1 SP54665 nsv527236 15 71208292 71256588 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703636 S 2026 1 0 NEO1 esv2061446 15 71270659 71271089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001606 S 1 0 1 NEO1 NA18507 nsv94493 15 71374538 71374538 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113071 M 24 NEO1 nsv524049 15 71399886 71467354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699913 S 2026 0 1 HCN4 esv998986 15 71434511 71436643 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565790 S 3 1 0 HCN4 HuRef esv28407 15 71447032 71448472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12124 S 451 0 2 HCN4 NA07045,NA18511 esv27615 15 71455824 71457899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20092 S 451 0 2 "" NA12828,NA12878 nsv525433 15 71553125 71620653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701560 S 2026 0 1 C15orf60 nsv904344 15 71587572 71651884 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539867 S 6533 1 0 C15orf60,NPTN MS14526 esv26087 15 71711332 71712154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17660 S 451 0 1 NPTN NA07037 esv1006009 15 71711409 71712016 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586910 S 3 0 1 NPTN HuRef esv272499 15 71770346 71770574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581861,essv2582274,essv2582788,essv2584663,essv2583655 M 7 5 0 Samples from several populations that are part of the HapMap project. CD276 NA12878,NA12891,NA12892,NA19239,NA19240 esv268888 15 71770346 71770683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558032,essv2565726,essv2575998,essv2571761,essv2546517,essv2542395,essv2536522,essv2523031,essv2543996,essv2571020,essv2568192,essv2545694,essv2531990,essv2577437,essv2576617,essv2550401,essv2535408,essv2554317,essv2544505,essv2520532,essv2547170,essv2529357,essv2558568,essv2564661,essv2577654,essv2553830,essv2559519,essv2576377,essv2555008,essv2537668,essv2528438,essv2547074,essv2556896,essv2551916,essv2532226,essv2536884,essv2527088,essv2544653,essv2562863,essv2523713,essv2524695,essv2565167,essv2561169,essv2549147,essv2560148,essv2522061,essv2529042,essv2567554,essv2541778,essv2570038,essv2553298,essv2535616,essv2572223,essv2556163,essv2533833,essv2578140,essv2573062,essv2533532,essv2557719,essv2555977,essv2534441,essv2573610,essv2543103,essv2572176,essv2525653,essv2529579,essv2575008,essv2526655,essv2572673,essv2549678,essv2545912,essv2574488,essv2536062,essv2537958,essv2548774,essv2533373,essv2524996,essv2563358 M 157 78 0 Samples from several populations that are part of the HapMap project. CD276 NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12006,NA12043,NA12154,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12872,NA12878,NA12891,NA12892,NA18501,NA18504,NA18505,NA18517,NA18522,NA18526,NA18532,NA18537,NA18555,NA18558,NA18562,NA18564,NA18570,NA18571,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18871,NA18916,NA18940,NA18942,NA18944,NA18953,NA18956,NA18959,NA18964,NA18965,NA18973,NA18980,NA19093,NA19102,NA19114,NA19143,NA19225,NA19239,NA19240 nsv819417 15 71792849 71793842 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419147 S 2 1 0 CD276 AK1 nsv471252 15 71793744 71876846 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545740 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C15orf59,CD276 HGDP00697 esv29159 15 71831222 71835745 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13877,esv9813 M 451 1 1 "" NA12878,NA18511 esv2080287 15 71951066 71951628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908590 S 1 0 1 "" NA18507 esv3582 15 71951224 71951501 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26023 S 1 0 1 Single Asian sample YH "" YH nsv1603 15 71978275 72022786 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4636 S 9 0 1 LOC100287616,LOXL1 NA19129 nsv1604 15 71982673 72016254 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7196 S 9 1 0 LOC100287616,LOXL1 NA12156 dgv756e1 15 72002167 72251969 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13683,esv124,essv20902,essv23056,essv12604,essv23884,essv11247 M 271 0 0 GOLGA6A,ISLR2,LOC100287616,LOC283731,LOXL1,PML,STOML1 NA12801,NA12812,NA12814,NA19098,NA19119,NA19204 nsv428308 15 72002167 72251969 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452743,nssv452741,nssv452744 M 62 1 2 GOLGA6A,ISLR2,LOC100287616,LOC283731,LOXL1,PML,STOML1 HGDP00463,NA18498,NA19225 nsv833052 15 72037431 72164203 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452019,nssv1452018 M 95 1 1 GOLGA6A,PML,STOML1 nsv518316 15 72078046 72118136 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695747 S 2026 1 0 PML nsv469619 15 72078912 72253374 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649544 M 265 0 2 Samples from several populations that are part of the HapMap project. GOLGA6A,ISLR,ISLR2,LOC283731,PML nsv457203 15 72095993 72134776 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534442 S 1557 0 1 PML 1780854065_A nsv509575 15 72097791 72181798 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619668 S 4 1 0 GOLGA6A,PML NA10860 nsv510666 15 72097791 72181798 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622696 S 4 0 1 GOLGA6A,PML NA18994 nsv817697 15 72123686 72130383 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416100,nssv1416101 M 112 2 0 PML NA12801,NA12813 esv24319 15 72134163 72189627 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16734 S 451 6 0 GOLGA6A NA07045,NA12006,NA12239,NA18502,NA18909,NA19225 nsv821535 15 72134163 72189627 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421132 S 1 1 0 GOLGA6A NA10851 nsv9276 15 72141721 72170035 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24777,nssv22912 M 31 0 2 Samples from several populations that are part of the HapMap project. GOLGA6A NA19173,NA19240 nsv1605 15 72146725 72156543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2116,nssv4164,nssv5564 M 9 3 0 GOLGA6A NA12878,NA18555,NA19129 nsv833053 15 72147209 72342193 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452020 S 95 0 1 CCDC33,GOLGA6A,ISLR,ISLR2,LOC283731,STRA6 nsv471380 15 72149251 72161944 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548113,nssv548115,nssv548114 M 3 GOLGA6A nsv482178 15 72149251 72161944 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558539 S 1 1 0 GOLGA6A KB1 esv1002288 15 72150046 72170021 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586565 S 3 1 0 GOLGA6A HuRef nsv1606 15 72156884 72163808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6640 S 9 1 0 GOLGA6A NA12156 nsv1607 15 72163815 72180018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10063,nssv10062 M 9 1 0 "" NA18956 nsv827385 15 72206592 72216354 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433227 S 31 1 0 ISLR2,LOC283731 NA18972 esv271299 15 72239607 72239692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518709 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv833054 15 72244696 72412336 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452021 S 95 0 1 CCDC33,ISLR,STRA6 dgv2404n71 15 72245234 72335826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904345,nsv904347,nsv904348,nsv904346 M 6533 0 4 CCDC33,ISLR,STRA6 IS33162,IS40799,MS10311,MS17208 nsv510938 15 72270003 72452252 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622414 S 4 0 0 CCDC33,CYP11A1,STRA6 NA10860 nsv471253 15 72276260 72332201 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545742,nssv545741 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC33,STRA6 HGDP00298,HGDP00867 dgv2405n71 15 72287158 72335826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904349,nsv904350 M 6533 0 2 CCDC33,STRA6 MS10123,MS16153 nsv507789 15 72292248 72298248 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623194 S 4 1 0 "" NA18994 nsv513432 15 72295953 72296056 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625832 S 1 1 0 "" 1 nsv1608 15 72344914 72377014 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6641 S 9 1 0 CCDC33 NA12156 esv275019 15 72364257 72364862 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585951 S 1250 0 1 CCDC33 nsv1609 15 72398516 72405908 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1263 S 9 1 0 CCDC33 NA19240 dgv2406n71 15 72426018 72502258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904352,nsv904351 M 6533 0 2 CYP11A1,SEMA7A IS32322,IS33684 esv28469 15 72429831 72446632 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18862 S 451 1 0 CYP11A1 NA12878 nsv904353 15 72484137 72503662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506968 S 6533 1 0 SEMA7A SP54442 nsv904354 15 72484137 72509977 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508655,nssv1499533 M 6533 1 1 SEMA7A SP50066,SP54620 dgv2407n71 15 72484137 72516656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904355,nsv904356 M 6533 2 0 SEMA7A SP54381,SP54448 dgv2408n71 15 72495046 72503662 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904358,nsv904366,nsv904357 M 6533 3 0 SEMA7A SP54468,SP54650,SP57367 dgv2409n71 15 72496124 72500332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904359,nsv904363,nsv904362 M 6533 0 3 SEMA7A SP50159,SP80957,SP80977 dgv2410n71 15 72496124 72515202 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904368,nsv904364,nsv904367,nsv904360 M 6533 5 0 SEMA7A SP50061,SP53687,SP54614,SP54792,SP56260 dgv2411n71 15 72497028 72499231 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904365,nsv904361 M 6533 0 3 SEMA7A SP50663,SP55310,SP56846 nsv904369 15 72503814 72506584 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506808 S 6533 1 0 SEMA7A SP54406 dgv2412n71 15 72505752 72510344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904374,nsv904370,nsv904372 M 6533 0 4 SEMA7A SP51307,SP52060,SP54405,SP54406 nsv904371 15 72506302 72518383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508148 S 6533 0 1 SEMA7A SP54672 nsv904373 15 72506584 72508958 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504597 S 6533 0 1 SEMA7A SP52656 dgv2413n71 15 72507051 72510344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904377,nsv904378,nsv904375,nsv904376 M 6533 0 7 SEMA7A SP50159,SP52688,SP54657,SP55279,SP56886,SP80957,SP80977 esv24909 15 72512577 72513245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11851 S 451 0 1 SEMA7A NA18511 nsv1611 15 72613277 72642948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10064 S 9 1 0 ARID3B NA18956 nsv513433 15 72631624 72631893 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625834 S 1 1 0 ARID3B 1 esv1046755 15 72631728 72631728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650035 S 2 1 0 ARID3B HuRef nsv904379 15 72656491 72814933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543663 S 6533 0 1 ARID3B,CLK3,CYP1A1,EDC3 MS16153 nsv904380 15 72656491 72929814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546873,nssv1530812 M 6533 0 2 ARID3B,CLK3,CPLX3,CSK,CYP1A1,CYP1A2,EDC3,LMAN1L,MIR4513,SCAMP2,ULK3 MS10311,MS17208 nsv457204 15 72672144 72735116 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534443 S 1557 0 1 ARID3B,CLK3,EDC3 NINDS_70 nsv817698 15 72676216 72806502 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415707 S 112 1 0 ARID3B,CLK3,CYP1A1,EDC3 NA12248 esv28499 15 72698357 72712550 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19858 S 451 1 0 CLK3,EDC3 NA18511 nsv527730 15 72702941 72707585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704212 S 2026 0 1 CLK3 nsv833055 15 72775397 72953341 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452022 S 95 0 1 CPLX3,CSK,CYP1A1,CYP1A2,EDC3,LMAN1L,MIR4513,SCAMP2,ULK3 nsv520527 15 72895689 72909909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672106,nssv689173 M 2026 0 2 CPLX3,LMAN1L nsv904381 15 72895689 73029208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592318 S 6533 0 1 C15orf17,COX5A,CPLX3,LMAN1L,MPI,SCAMP2,ULK3 IS39233 nsv904382 15 72916647 72927907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510099 S 6533 0 1 SCAMP2,ULK3 SP54956 esv1231258 15 72916947 72916996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144090 S 2 0 1 ULK3 HuRef nsv827386 15 72948415 72953526 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433228 S 31 1 0 SCAMP2 NA18972 nsv827388 15 72948415 72956174 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430312 S 31 1 0 SCAMP2 NA18947 esv990390 15 72966353 72974998 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564305 S 3 0 1 MPI HuRef esv1060905 15 72973502 72973502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728845 S 2 1 0 MPI HuRef nsv819808 15 72985465 72986577 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419176 S 2 1 0 C15orf17 AK1 esv273377 15 72990036 72990187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580227,essv2580449,essv2579978,essv2580986,essv2579364,essv2579784 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2595466 15 73011529 73013025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205539 S 1 0 1 COX5A NA18507 nsv1612 15 73034778 73068337 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7198 S 9 0 1 RPP25 NA12156 esv1327790 15 73056282 73056335 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992127 S 2 0 1 "" HuRef esv1030369 15 73056369 73056444 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912566 S 2 0 1 "" HuRef esv1555207 15 73056651 73056651 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302362 S 2 1 0 "" HuRef esv1597330 15 73056676 73056676 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861430 S 2 1 0 "" HuRef esv1976733 15 73070221 73070707 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800956 S 1 0 1 "" NA18507 esv4606 15 73070261 73070624 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27047 S 1 0 1 Single Asian sample YH "" YH esv1100949 15 73070374 73070505 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114669 S 2 0 1 "" HuRef nsv527237 15 73092093 73108315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703637 S 2026 0 1 PPCDC,SCAMP5 esv5441 15 73157455 73203285 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27882 S 1 0 0 "" SJK nsv904383 15 73169595 73307431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545567 S 6533 1 0 C15orf39 MS16834 esv1464982 15 73202681 73202681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772309 S 2 1 0 "" HuRef nsv525506 15 73217579 73218848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701638 S 2026 0 1 "" nsv833056 15 73240000 73401643 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452023 S 95 1 0 C15orf39,GOLGA6C,GOLGA6D nsv904384 15 73280876 73307431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518429 S 6533 0 1 C15orf39 SP57553 nsv904385 15 73280876 73333753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517492 S 6533 0 1 C15orf39 SP57292 esv22004 15 73329425 73378675 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15468 S 451 5 0 GOLGA6C,GOLGA6D NA12239,NA12287,NA18502,NA18909,NA19225 nsv821359 15 73329425 73378675 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421133 S 1 1 0 GOLGA6C,GOLGA6D NA10851 nsv1613 15 73329885 73375708 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6642,nssv1264 M 9 0 2 GOLGA6C,GOLGA6D NA12156,NA19240 nsv115 15 73332126 73349115 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv115 S 1 1 0 GOLGA6C NA15510 nsv1614 15 73332126 73349115 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10934 S 9 1 0 GOLGA6C NA15510 nsv9277 15 73332278 73370641 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22941 S 31 0 1 Samples from several populations that are part of the HapMap project. GOLGA6C,GOLGA6D NA19173 esv996044 15 73333121 73375224 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586283 S 3 1 0 GOLGA6C,GOLGA6D HuRef nsv498851 15 73336381 73364018 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585712 S 9 0 1 GOLGA6C,GOLGA6D nsv436728 15 73350959 73353331 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465525 S 2 1 0 Samples from several populations that are part of the HapMap project. GOLGA6C NA18505 nsv1615 15 73430790 73456972 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5565 S 9 1 0 MAN2C1,MIR631,NEIL1,SIN3A NA19129 nsv904386 15 73442872 73460262 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501544,nssv1507725 M 6533 2 0 MAN2C1,SIN3A SP50989,SP54663 nsv525265 15 73457132 73479356 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701365 S 2026 1 0 SIN3A nsv904387 15 73493349 73593966 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592698 S 6533 1 0 PTPN9,SIN3A IS39243 dgv2414n71 15 73517235 73593966 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904389,nsv904388 M 6533 0 2 PTPN9,SIN3A IS39363,SP54956 nsv827389 15 73528971 73536506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433229 S 31 1 0 SIN3A NA18972 nsv827390 15 73553140 73582425 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441512 S 31 1 0 PTPN9 NA18969 esv1633101 15 73560782 73560831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352047 S 2 0 1 PTPN9 HuRef esv1611493 15 73560844 73560844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690596 S 2 1 0 PTPN9 HuRef esv1056937 15 73561035 73561035 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926280 S 2 1 0 PTPN9 HuRef esv1664478 15 73561104 73561104 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291021 S 2 1 0 PTPN9 HuRef nsv904390 15 73582232 73627998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539149 S 6533 0 1 PTPN9 MS14216 nsv819520 15 73606508 73652936 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418742 S 2 0 1 PTPN9 AK1 esv2480100 15 73653222 73654875 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289289 S 1 0 1 PTPN9 NA18507 esv1178689 15 73654381 73654684 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588716 S 2 0 1 PTPN9 HuRef nsv527186 15 73711498 73894785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703582 S 2026 0 1 CSPG4,DNM1P35,IMP3,MIR4313,ODF3L1,SNX33 dgv2415n71 15 73717812 73788709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904393,nsv904391 M 6533 0 2 CSPG4,IMP3,SNX33 IS33162,IS40799 dgv2416n71 15 73717812 73858160 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904394,nsv904396,nsv904392 M 6533 0 3 CSPG4,DNM1P35,IMP3,MIR4313,ODF3L1,SNX33 IS39233,MS10311,MS17208 nsv904395 15 73744983 73771150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510101 S 6533 0 1 CSPG4 SP54956 nsv904397 15 73859085 73906147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563759 S 6533 0 1 DNM1P35 IS30066 nsv1616 15 73876653 73909508 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5566 S 9 1 0 "" NA19129 esv271401 15 73930455 73930677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496667,essv2504057,essv2505990,essv2503160,essv2497902,essv2512326,essv2493115,essv2506746 M 157 8 0 Samples from several populations that are part of the HapMap project. UBE2Q2 NA11894,NA18505,NA18523,NA18943,NA18945,NA18949,NA18951,NA19108 nsv904398 15 74007340 74146110 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552027,nssv1535284 M 6533 2 0 C15orf27,FBXO22,FBXO22-AS1,NRG4 MS12129,MS19119 nsv518214 15 74047485 74070997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695639 S 2026 0 1 NRG4 nsv518261 15 74061567 74070997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695692 S 2026 0 1 NRG4 nsv1617 15 74119158 74146490 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5567,nssv9959 M 9 0 2 C15orf27 NA18507,NA19129 esv2523270 15 74122932 74134252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351827 S 1 0 1 "" NA18507 nsv498852 15 74123666 74133766 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585713 S 9 0 1 "" esv28373 15 74123853 74134147 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12345 S 451 0 6 "" NA12776,NA18511,NA19099,NA19108,NA19129,NA19257 nsv442705 15 74127925 74131944 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514785 15 74128064 74133448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628243 S 1414 0 1 "" esv2580191 15 74129105 74132152 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301307 S 1 0 1 "" NA18507 nsv833057 15 74154903 74372923 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452024 S 95 0 1 C15orf27,ETFA,TYRO3P esv274972 15 74270397 74272591 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585980 S 1250 0 1 C15orf27 nsv1618 15 74285720 74319893 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7199 S 9 1 0 ETFA NA12156 esv1180027 15 74309911 74309911 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156662 S 2 1 0 ETFA HuRef nsv527608 15 74317322 74349793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704071 S 2026 0 1 ETFA,TYRO3P nsv520069 15 74389267 74396236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697205 S 2026 0 1 ETFA nsv1619 15 74391671 74425425 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7200 S 9 1 0 ISL2 NA12156 nsv904399 15 74409958 74433630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511497 S 6533 0 1 ISL2,SCAPER SP55021 nsv827391 15 74413626 74423382 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433231 S 31 1 0 ISL2 NA18972 nsv525769 15 74419542 74448980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701937 S 2026 0 1 ISL2,SCAPER nsv510667 15 74440414 74495365 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618928 S 4 0 1 SCAPER NA10860 nsv507790 15 74449311 74455311 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617903 S 4 1 0 SCAPER CHM esv273470 15 74453033 74453118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581478 S 7 1 0 Samples from several populations that are part of the HapMap project. SCAPER NA12878 dgv2417n71 15 74559117 74872338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904400,nsv904401 M 6533 0 2 SCAPER IS31179,IS31302 nsv471254 15 74598445 74765194 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545744,nssv545745 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCAPER HGDP01272,HGDP01277 esv270942 15 74613036 74613269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575933,essv2570820,essv2568333,essv2535206,essv2554161,essv2577983,essv2564107,essv2561959,essv2520786,essv2536806,essv2544957,essv2549143,essv2522097,essv2532623,essv2528813,essv2541721,essv2572238,essv2551050,essv2568975,essv2527935,essv2562292,essv2555644,essv2566658,essv2529423,essv2538566,essv2526468,essv2523967,essv2530253,essv2549717 M 157 29 0 Samples from several populations that are part of the HapMap project. SCAPER NA11830,NA11993,NA11995,NA12249,NA12287,NA12761,NA12828,NA12874,NA18498,NA18517,NA18526,NA18564,NA18571,NA18576,NA18579,NA18592,NA18609,NA18858,NA18861,NA18907,NA18909,NA18945,NA18948,NA19093,NA19108,NA19114,NA19129,NA19141,NA19225 nsv1620 15 74649207 74701343 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10936,nssv1265,nssv7201,nssv4165,nssv2117 M 9 0 5 SCAPER NA12156,NA12878,NA15510,NA18555,NA19240 nsv904402 15 74650078 74717860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586236 S 6533 1 0 SCAPER IS37698 nsv904403 15 74656984 74738095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568706,nssv1569106 M 6533 0 2 SCAPER IS31330,IS31419 dgv2418n71 15 74656984 74834970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904404,nsv904405,nsv904409,nsv904410 M 6533 0 12 SCAPER IS31054,IS31067,IS31359,IS31369,IS31765,IS31904,IS35244,IS35771,IS37393,IS38239,IS38575,IS39100 dgv2419n71 15 74656984 74872338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904406,nsv904412,nsv904411 M 6533 0 6 SCAPER IS30539,IS35145,IS35263,IS35743,IS38183,IS39788 dgv2420n71 15 74656984 74908251 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904407,nsv904408 M 6533 2 0 SCAPER IS32653,IS33857 nsv510668 15 74666907 74688992 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617423 S 4 0 1 SCAPER CHM nsv116 15 74667683 74701343 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv116 S 1 0 1 SCAPER NA15510 esv1002951 15 74669127 74688834 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563889 S 3 0 1 SCAPER HuRef nsv820890 15 74670826 74683868 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421134 S 1 0 1 SCAPER NA10851 nsv827392 15 74670826 74683868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441513,nssv1427860,nssv1426145,nssv1431657,nssv1432439,nssv1435435,nssv1430167,nssv1422960,nssv1430933,nssv1439292,nssv1437039,nssv1428659 M 31 0 12 SCAPER AK10,AK14,AK16,AK18,AK20,AK4,AK8,NA18542,NA18552,NA18942,NA18969,NA18973 esv33866 15 74670838 74671135 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98738 S 51 0 1 SCAPER 21606 esv24977 15 74671070 74683868 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15339,esv13875 M 451 24 3 SCAPER NA07037,NA07045,NA11931,NA11993,NA11995,NA12287,NA12489,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv9278 15 74671122 74696180 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22367,nssv24467,nssv22220,nssv23646,nssv22635,nssv22970,nssv21576,nssv22397,nssv25832,nssv26037,nssv27554,nssv22354,nssv25372,nssv21654,nssv20291,nssv26263,nssv22248,nssv23627,nssv25404,nssv21362,nssv19865,nssv22979 M 31 18 3 Samples from several populations that are part of the HapMap project. SCAPER NA07029,NA10839,NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA18972,NA18975,NA19132,NA19144,NA19173,NA19221 esv32734 15 74671135 74680367 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98832,essv101157,essv93855,essv100673,essv96868,essv96846,essv100989,essv98253,essv94754,essv94141,essv101423,essv97819,essv93060,essv101780,essv94632,essv92943,essv92707,essv93719,essv96143,essv99924,essv99612,essv94887,essv92591,essv100171,essv100533,essv100426,essv94222 M 51 10 16 SCAPER 21606,21618,21634,21656,21659,21693,21772,21791,21802,21805,21837,21863,21909,21932,21939,21944,21972,22007,22086,22217,22231,22233,22286,22298,22300,22394 nsv820145 15 74671396 74685024 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418639 S 2 1 0 SCAPER AK1 dgv439n67 15 74671426 74680690 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827394,nsv827393 M 31 0 3 SCAPER AK12,NA18947,NA18972 nsv498853 15 74671651 74683995 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585714 S 9 0 1 SCAPER nsv507791 15 74675085 74681085 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619152 S 4 1 0 SCAPER NA10860 nsv511549 15 74678065 74689578 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626173 S 1 1 0 SCAPER 1 esv2421572 15 74678296 74682830 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022966,essv5074002,essv5105847,essv5159005,essv5078813,essv5118173,essv5101845,essv5104126,essv5063609,essv5057383,essv5068362,essv5146993,essv5049530,essv5068384,essv5049479,essv5146865,essv5138619,essv5134044,essv5036021,essv5135175,essv5142740,essv5129677,essv5022223,essv5081271,essv5080656,essv5116957,essv5071836,essv5147001,essv5034666,essv5114121,essv5051824,essv5085103,essv5096700,essv5085388,essv5066170,essv5002584,essv5038812,essv5061124,essv5061575,essv5011547,essv5062124,essv5047175,essv5005519,essv5112430,essv5063779,essv5040448,essv5025376,essv5147097,essv5102632,essv5116533,essv5081187,essv5138303,essv5004402,essv5063550,essv5076726,essv5023196,essv5152196,essv5100426,essv5068894,essv5031066,essv5082579,essv5093293,essv5132201,essv5032338,essv5110940,essv5133108,essv5139565,essv5065877,essv5073972,essv5075677,essv5103822,essv5069416,essv5064931,essv5149228,essv5124852,essv5143246,essv5005579,essv5079306,essv5135360,essv5070841,essv5062868,essv5008104,essv5132190,essv5104396,essv5025939,essv5139495,essv5096228,essv5012350,essv5024879,essv5035298,essv5140867,essv5057224,essv5153408,essv5109421,essv5076923,essv5049354,essv5115850,essv5015458,essv5003693,essv5059441,essv5053340,essv5137411,essv5139539,essv5105075,essv5003639,essv5111312,essv5108030,essv5137306,essv5152905,essv5017448,essv5098406,essv5161218,essv5011959,essv5078825,essv5074309,essv5049929,essv5008952,essv5067202,essv5022104,essv5022686,essv5109153,essv5097779,essv5060950,essv5059033,essv5064660,essv5129555,essv5050810,essv5065571,essv5034930,essv5034958,essv5031911,essv5143536,essv5152890,essv5086680,essv5020168,essv5029891,essv5054885,essv5046941,essv5057281,essv5123793,essv5036782,essv5015464,essv5069122,essv5072089,essv5134796,essv5070719,essv5077126,essv5138099,essv5026785,essv5148034,essv5130775,essv5112671,essv5008465,essv5093669,essv5061274,essv5119968,essv5098598,essv5075482,essv5025435,essv5044170,essv5011562,essv5003607,essv5078050,essv5117478,essv5060238,essv5156765,essv5082021,essv5102064,essv5120095,essv5109175,essv5102749,essv5100257,essv5149705,essv5124443,essv5104215,essv5128563,essv5084579,essv5059012,essv5095338,essv5110299,essv5089798,essv5009812,essv5106063,essv5113854,essv5008649,essv5149255,essv5111288,essv5150353,essv5065880,essv5007807,essv5109510,essv5041934,essv5045001,essv5039412,essv5059163,essv5095885,essv5054705,essv5025241,essv5077657,essv5132020,essv5061347,essv5149538,essv5012287,essv5086698,essv5098143,essv5014578,essv5121384,essv5126088,essv5045021,essv5080011,essv5033753,essv5046623,essv5092925,essv5021843,essv5062765,essv5049049,essv5005528,essv5004619,essv5133417,essv5091134,essv5063389,essv5130864,essv5017555,essv5034968,essv5003338,essv5103821,essv5101091,essv5122576,essv5012862,essv5014993,essv5093672,essv5011060,essv5068881,essv5115486,essv5123073,essv5013978,essv5144124,essv5142014,essv5115321,essv5133061,essv5126499,essv5062921,essv5005063,essv5022391,essv5094071,essv5069570,essv5086312,essv5078634,essv5133762,essv5105596,essv5079538,essv5103032,essv5102266,essv5018468,essv5100175,essv5156265,essv5018144,essv5123653,essv5110122,essv5099170,essv5052533,essv5143726,essv5079947,essv5008242,essv5076879,essv5002339,essv5022668,essv5158471,essv5149879,essv5135250,essv5044302,essv5096844,essv5023027,essv5156100,essv5141700,essv5120509,essv5148790,essv5090442,essv5133958,essv5117275,essv5059338,essv5043022,essv5099999,essv5114478,essv5067766,essv5056064,essv5023942,essv5133392,essv5102842,essv5110330,essv5115545,essv5056125,essv5024360,essv5098552,essv5105129,essv5147638,essv5015750,essv5085670,essv5110102,essv5057081,essv5070308,essv5058133,essv5031795,essv5015989,essv5042684,essv5158661,essv5086667,essv5007561,essv5016375,essv5077688,essv5104160,essv5025547,essv5044321,essv5088305,essv5121704,essv5089153,essv5015055,essv5083467,essv5059270,essv5022908,essv5015986,essv5018824,essv5085508,essv5104009,essv5071374,essv5098702,essv5098604,essv5154354,essv5103744,essv5031326,essv5065033,essv5005734,essv5089731,essv5011076,essv5057131,essv5040057,essv5027675,essv5008419,essv5081842,essv5129230,essv5133103,essv5041663,essv5063268,essv5039844,essv5116568,essv5116234,essv5158492,essv5148498,essv5009834,essv5043341,essv5072011,essv5059504,essv5071700,essv5158184,essv5157519,essv5070933,essv5148270,essv5039405,essv5079556,essv5073449,essv5133784,essv5040600,essv5010925,essv5066220,essv5061932,essv5067940,essv5125585,essv5032226,essv5096595,essv5110307,essv5040195,essv5068910,essv5116960,essv5106436,essv5099589,essv5135685,essv5117904,essv5087532,essv5062198,essv5029797,essv5003816,essv5053393,essv5070071,essv5039513,essv5011534,essv5039472,essv5099652,essv5148946,essv5115001,essv5127767,essv5040323,essv5024887,essv5133957,essv5144383,essv5047685,essv5033342,essv5080355,essv5082511,essv5140055,essv5027849,essv5136189,essv5092834,essv5024180,essv5039142,essv5051312,essv5013656,essv5035687,essv5104723,essv5096526,essv5008083,essv5101718,essv5157180,essv5057269,essv5066065,essv5099079,essv5089415,essv5047902,essv5121013,essv5128251,essv5136594,essv5057575,essv5080649,essv5049556,essv5119502,essv5014104,essv5137688,essv5070278,essv5159149,essv5144894,essv5059109,essv5043812,essv5108996,essv5145200,essv5097493,essv5055222,essv5005177,essv5103839,essv5113789,essv5015540,essv5074555,essv5157895,essv5008103,essv5127209,essv5130213,essv5080706,essv5005705,essv5056891,essv5117346,essv5019800,essv5109235,essv5155888,essv5096033,essv5155319,essv5072010,essv5022782,essv5125213,essv5003972,essv5099792,essv5108783,essv5095779,essv5089042,essv5017340,essv5096984,essv5135229,essv5156885,essv5042081,essv5022608,essv5006321,essv5054214,essv5161061,essv5068073,essv5059239,essv5037049,essv5043034,essv5120418,essv5075875,essv5064119,essv5126230,essv5153686,essv5135374,essv5055265,essv5065632,essv5140557,essv5124695,essv5056900,essv5019796,essv5082923,essv5110073,essv5008996,essv5091557,essv5085423,essv5011438,essv5124027,essv5045024,essv5135962,essv5064232,essv5089729,essv5013895,essv5158475,essv5006762,essv5039773,essv5029922,essv5149606,essv5116869,essv5060916,essv5160451,essv5025209,essv5129185,essv5044523,essv5054257,essv5110869,essv5004312,essv5147801,essv5012667,essv5078564,essv5019581,essv5045257,essv5143922,essv5082873,essv5107613,essv5086684,essv5106879,essv5060038,essv5007572,essv5079482,essv5078498,essv5155432,essv5106726,essv5006540,essv5131372,essv5072392,essv5008854,essv5013481,essv5148666,essv5138046,essv5124348 M 1184 0 536 SCAPER NA06984,NA06985,NA06989,NA06991,NA06993,NA06995,NA06997,NA07000,NA07022,NA07031,NA07045,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10835,NA10836,NA10837,NA10838,NA10839,NA10843,NA10845,NA10846,NA10850,NA10852,NA10856,NA10861,NA10864,NA11829,NA11830,NA11831,NA11832,NA11843,NA11881,NA11894,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11994,NA12003,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12156,NA12234,NA12239,NA12248,NA12273,NA12275,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12348,NA12375,NA12383,NA12386,NA12399,NA12400,NA12413,NA12707,NA12708,NA12716,NA12718,NA12740,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12766,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17968,NA17970,NA17974,NA17976,NA17981,NA17995,NA17997,NA17999,NA18101,NA18102,NA18105,NA18108,NA18109,NA18112,NA18114,NA18117,NA18120,NA18125,NA18128,NA18133,NA18134,NA18135,NA18138,NA18139,NA18141,NA18143,NA18146,NA18148,NA18149,NA18150,NA18151,NA18152,NA18154,NA18161,NA18166,NA18486,NA18487,NA18524,NA18532,NA18536,NA18542,NA18544,NA18545,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18562,NA18563,NA18571,NA18572,NA18573,NA18576,NA18593,NA18595,NA18596,NA18599,NA18602,NA18611,NA18612,NA18613,NA18619,NA18620,NA18621,NA18622,NA18626,NA18627,NA18628,NA18631,NA18633,NA18634,NA18635,NA18640,NA18641,NA18643,NA18670,NA18682,NA18704,NA18740,NA18745,NA18757,NA18870,NA18939,NA18940,NA18942,NA18944,NA18947,NA18948,NA18952,NA18954,NA18957,NA18959,NA18960,NA18961,NA18965,NA18967,NA18969,NA18970,NA18973,NA18976,NA18977,NA18979,NA18980,NA18987,NA18990,NA18993,NA18998,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19044,NA19055,NA19056,NA19057,NA19058,NA19062,NA19068,NA19070,NA19072,NA19075,NA19077,NA19079,NA19083,NA19084,NA19085,NA19087,NA19122,NA19123,NA19137,NA19139,NA19178,NA19180,NA19185,NA19204,NA19210,NA19211,NA19238,NA19240,NA19317,NA19321,NA19324,NA19346,NA19352,NA19359,NA19371,NA19375,NA19379,NA19384,NA19403,NA19404,NA19428,NA19468,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19675,NA19676,NA19677,NA19678,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19703,NA19708,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19755,NA19756,NA19757,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19777,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19834,NA19904,NA19909,NA19919,NA19921,NA19982,NA19983,NA20127,NA20279,NA20300,NA20301,NA20302,NA20319,NA20334,NA20335,NA20341,NA20342,NA20343,NA20346,NA20350,NA20364,NA20502,NA20504,NA20505,NA20508,NA20509,NA20510,NA20512,NA20516,NA20517,NA20518,NA20520,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20768,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20804,NA20805,NA20807,NA20808,NA20810,NA20811,NA20812,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20853,NA20854,NA20856,NA20866,NA20869,NA20870,NA20871,NA20873,NA20874,NA20875,NA20876,NA20879,NA20881,NA20885,NA20891,NA20892,NA20895,NA20896,NA20897,NA20901,NA20903,NA20906,NA20909,NA20910,NA21089,NA21091,NA21094,NA21098,NA21099,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21137,NA21141,NA21142,NA21144,NA21295,NA21344,NA21359,NA21363,NA21365,NA21366,NA21367,NA21384,NA21386,NA21387,NA21388,NA21389,NA21403,NA21408,NA21415,NA21417,NA21420,NA21423,NA21434,NA21438,NA21439,NA21440,NA21441,NA21447,NA21451,NA21454,NA21455,NA21476,NA21477,NA21491,NA21509,NA21512,NA21517,NA21523,NA21524,NA21525,NA21529,NA21575,NA21578,NA21615,NA21616,NA21619,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21686,NA21689,NA21716,NA21717,NA21718,NA21738,NA21768,NA21826 nsv442706 15 74678296 74682830 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SCAPER nsv514786 15 74678368 74680552 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628244 S 1414 0 1 SCAPER nsv904413 15 74710972 74782205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513839 S 6533 0 1 SCAPER SP55851 nsv457206 15 74758511 74908251 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534444 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCAPER HGDP00183 esv267529 15 74879526 74879835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557779,essv2565744,essv2575997,essv2540795,essv2521237,essv2525919,essv2536746,essv2523029,essv2544009,essv2556766,essv2523274,essv2531950,essv2577642,essv2570484,essv2521573,essv2544559,essv2520573,essv2547317,essv2529256,essv2564493,essv2553903,essv2559693,essv2564057,essv2530840,essv2537218,essv2528336,essv2546951,essv2562810,essv2541226,essv2540447,essv2524318,essv2565002,essv2561267,essv2539578,essv2522177,essv2565993,essv2532786,essv2570117,essv2542123,essv2543549,essv2578251,essv2573198,essv2533691,essv2567050,essv2534339,essv2522328,essv2543206,essv2577031,essv2526774,essv2560902,essv2571100,essv2574287,essv2537817,essv2554469,essv2547935,essv2525069 M 157 56 0 Samples from several populations that are part of the HapMap project. SCAPER NA07000,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11920,NA11931,NA11992,NA11994,NA12004,NA12006,NA12043,NA12044,NA12144,NA12414,NA12716,NA12717,NA12749,NA12751,NA12763,NA12776,NA12828,NA12873,NA12878,NA12891,NA12892,NA18532,NA18545,NA18552,NA18555,NA18558,NA18562,NA18563,NA18571,NA18572,NA18576,NA18593,NA18856,NA18870,NA18940,NA18942,NA18944,NA18947,NA18959,NA18960,NA18965,NA18970,NA19005,NA19137,NA19238,NA19240 esv272422 15 74879528 74879835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581798,essv2582565,essv2583254,essv2583904,essv2583559 M 7 5 0 Samples from several populations that are part of the HapMap project. SCAPER NA12878,NA12891,NA12892,NA19238,NA19240 dgv757e1 15 74957605 75160503 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv231,essv20150 M 271 0 0 PSTPIP1,RCN2,SCAPER,TSPAN3 NA07345 nsv833058 15 75022950 75180695 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452026,nssv1452035,nssv1452025,nssv1452034,nssv1452028,nssv1452033,nssv1452030,nssv1452027,nssv1452032,nssv1452029,nssv1452031 M 95 0 11 PSTPIP1,RCN2,TSPAN3 nsv509576 15 75041415 75126733 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619670,nssv621012 M 4 2 0 PSTPIP1,TSPAN3 NA10860,NA15510 nsv517068 15 75041599 75168277 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697169,nssv683277,nssv693432,nssv697047,nssv661834,nssv665263,nssv682226,nssv674633,nssv661383,nssv682321,nssv692684,nssv653725,nssv685115,nssv692990 M 2026 1 13 PSTPIP1,TSPAN3 esv259979 15 75076802 75077360 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396451,essv2398019 M 144 0 0 Samples from several populations that are part of the HapMap project. PSTPIP1 NA19138,NA19147 nsv904414 15 75091365 75187443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546875 S 6533 0 1 PSTPIP1,TSPAN3 MS17208 nsv1622 15 75101874 75131321 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5568,nssv9960,nssv1266,nssv6643,nssv2118 M 9 5 0 PSTPIP1,TSPAN3 NA12156,NA18507,NA18555,NA19129,NA19240 nsv511547 15 75115324 75124704 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626171 S 1 0 1 PSTPIP1,TSPAN3 1 nsv9279 15 75117343 75120152 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22250,nssv22036,nssv22999,nssv20321,nssv25429,nssv25397,nssv22384,nssv22586,nssv24493,nssv21606,nssv21452,nssv21684,nssv23674,nssv21873,nssv22278,nssv23654,nssv25853,nssv27562,nssv19810,nssv26281,nssv23008,nssv22585,nssv22457,nssv20351,nssv26057,nssv22665 M 31 13 12 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221 dgv440n67 15 75117477 75120239 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827399,nsv827397,nsv827395 M 31 0 18 "" AK10,AK14,AK18,AK2,AK20,AK8,NA18526,NA18552,NA18570,NA18582,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18997,NA18999 nsv821154 15 75117477 75120239 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421136 S 1 0 1 "" NA10851 esv27513 15 75117485 75119797 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20888 S 451 20 8 "" NA07037,NA11931,NA11993,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv819650 15 75117499 75119940 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419430 S 2 1 0 "" AK1 nsv827396 15 75117682 75119344 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438458 S 31 0 1 "" NA18951 dgv441n67 15 75118355 75119238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827401,nsv827400 M 31 0 2 "" AK16,AK4 nsv1623 15 75323969 75357684 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7202 S 9 1 0 PEAK1 NA12156 esv33934 15 75335819 75366579 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93090,essv99806,essv94266 M 51 0 3 PEAK1 21863,22086,22394 esv22240 15 75376140 75376873 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11837 S 451 0 1 PEAK1 NA19114 esv23118 15 75448029 75460953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17840 S 451 0 1 PEAK1 NA12239 esv23074 15 75495000 75499418 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21291 S 451 0 1 PEAK1 NA07037 esv271174 15 75548612 75548949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514186,essv2515909,essv2514330,essv2513728 M 157 4 0 Samples from several populations that are part of the HapMap project. HMG20A NA07347,NA12043,NA12873,NA12874 nsv1624 15 75594676 75631874 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7203,nssv10065 M 9 2 0 "" NA12156,NA18956 nsv833060 15 75603709 75822259 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452036 S 95 1 0 LINGO1,LOC253044 esv270782 15 75606510 75606611 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494296,essv2502963,essv2505354 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18507,NA18853 dgv2421n71 15 75633014 75730990 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904417,nsv904415 M 6533 0 3 LINGO1,LOC253044 IS33684,MS16153,MS18276 dgv2422n71 15 75633014 75754471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904416,nsv904418 M 6533 0 2 LINGO1,LOC253044 IS33162,MS10311 nsv904419 15 75684252 75730990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585985 S 6533 0 1 LINGO1,LOC253044 IS37646 esv2569789 15 75697230 75698804 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266481 S 1 0 1 LINGO1 NA18507 nsv512407 15 75697578 75699446 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624997 S 1 0 1 LINGO1 1 esv2102930 15 75697733 75698493 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895439 S 1 0 1 LINGO1 NA18507 esv4114 15 75697867 75698430 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26555 S 1 0 1 Single Asian sample YH LINGO1 YH esv996097 15 75697916 75698289 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568166 S 3 0 1 LINGO1 HuRef nsv94941 15 75697917 75698290 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113519 M 24 LINGO1 esv9490 15 75697927 75698291 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31931 S 1 0 1 LINGO1 SJK esv1355090 15 75697927 75698301 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708108 S 2 0 1 LINGO1 HuRef esv270080 15 75699612 75699907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502970,essv2496409,essv2501201,essv2506155,essv2505222,essv2509159,essv2507438,essv2506599 M 157 8 0 Samples from several populations that are part of the HapMap project. LINGO1 NA18507,NA18510,NA18516,NA18523,NA18853,NA18909,NA18912,NA19108 esv25321 15 75710539 75713029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20199 S 451 0 1 LINGO1 NA18511 esv1008836 15 75778583 75779186 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586789 S 3 0 1 "" HuRef nsv827402 15 75778583 75779186 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424576 S 31 0 1 "" NA18582 esv7618 15 75778819 75779051 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30059 S 1 0 1 "" SJK esv1180892 15 75779140 75779140 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953255 S 2 1 0 "" HuRef nsv833061 15 75785429 75908960 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452037,nssv1452038,nssv1452039 M 95 0 3 "" nsv819143 15 75795271 75799522 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419621 S 2 0 1 "" AK1 esv3553 15 75795497 75799693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25994 S 1 0 1 Single Asian sample YH "" YH esv7445 15 75795530 75799640 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29886 S 1 0 1 "" SJK esv23682 15 75795562 75799714 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20035 S 451 0 3 "" NA11931,NA12006,NA12156 nsv827403 15 75795773 75796797 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429424 S 31 0 1 "" AK12 dgv442n67 15 75795773 75798787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827404,nsv827406,nsv827405 M 31 0 6 "" AK10,AK16,NA18542,NA18564,NA18592,NA18949 dgv443n67 15 75795773 75799500 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827408,nsv827407 M 31 0 10 "" AK18,AK2,AK6,AK8,NA18537,NA18547,NA18566,NA18947,NA18973,NA18997 nsv904420 15 75812322 75865958 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585485 S 6533 0 1 "" IS37471 nsv1625 15 75814889 75848370 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5569 S 9 1 0 "" NA19129 nsv833062 15 75822261 76007413 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452040 S 95 0 1 LOC645752 dgv2423n71 15 75828844 75945948 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904421,nsv904425,nsv904424 M 6533 0 4 "" IS33162,IS36876,IS38840,MS10123 dgv2424n71 15 75842534 75906400 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904422,nsv904423 M 6533 0 3 "" IS40799,MS11306,MS11726 nsv471255 15 75850640 75918152 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545746 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00290 esv23904 15 75853160 75855135 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21366 S 451 0 1 "" NA19240 nsv519383 15 75871153 75877685 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696824 S 2026 0 1 "" nsv904426 15 75877685 76051219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524128 S 6533 0 1 LOC645752 SP54857 esv21599 15 75898149 75899870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16103 S 451 0 2 "" NA07045,NA18511 dgv2425n71 15 75917019 76038486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904427,nsv904429 M 6533 0 2 LOC645752 MS16153,MS17208 esv23575 15 75940521 75948429 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20048,esv11991 M 451 0 6 "" NA12004,NA12156,NA12414,NA18858,NA19147,NA19225 nsv904428 15 75943293 76017961 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581268 S 6533 1 0 LOC645752 IS35549 esv29937 15 75990028 76014384 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18540 S 451 1 0 LOC645752 NA19225 nsv9281 15 76000195 76012550 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23027 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC645752 NA19173 esv1535010 15 76064034 76064034 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245305 S 2 1 0 "" HuRef nsv1626 15 76105766 76141035 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4166 S 9 1 0 TBC1D2B NA12878 esv274890 15 76183502 76189313 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585336,essv2585767 M 1250 1 1 CIB2 nsv94529 15 76195877 76196643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113107 M 24 CIB2 nsv94621 15 76196369 76196643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113199 M 24 CIB2 nsv526717 15 76197344 76200071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703057 S 2026 0 1 CIB2 nsv904430 15 76253182 76294371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530815 S 6533 0 1 ACSBG1 MS10311 nsv833063 15 76392270 76542000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452041 S 95 0 1 CRABP1,IREB2 nsv1627 15 76470816 76515659 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7204 S 9 0 1 "" NA12156 nsv94512 15 76581214 76588277 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113090 M 24 AGPHD1 nsv518840 15 76658343 76674226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696293 S 2026 0 1 CHRNA3,CHRNA5 nsv513434 15 76679085 76679221 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625835 S 1 1 0 CHRNA3 1 esv1448423 15 76679183 76679183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038476 S 2 1 0 CHRNA3 HuRef nsv457208 15 76695087 76806665 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534446 S 1557 1 0 CHRNA3,CHRNB4 NINDS_105 nsv1628 15 76696567 76729001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4167 S 9 1 0 CHRNA3,CHRNB4 NA12878 esv2059419 15 76711411 76711834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787973 S 1 0 1 CHRNB4 NA18507 esv1211887 15 76711611 76711669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990023 S 2 0 1 CHRNB4 HuRef dgv8e24 15 76715000 76716971 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750525,esv2750511,esv2750577,esv2750510,esv2750481,esv2750484,esv2750494,esv2750498,esv2750521,esv2750528,esv2750531,esv2750532,esv2750534,esv2750542,esv2750543,esv2750547,esv2750581,esv2750662,esv2750663,esv2750673,esv2750693,esv2750713,esv2750732,esv2750755,esv2750661,esv2750716,esv2750635,esv2750634 M 51 0 28 CHRNB4 21606,21618,21659,21693,21721,21805,21808,21817,21837,21841,21863,21872,21879,21909,21932,21939,22007,22011,22127,22128,22170,22217,22275,22286,22298,22300,22371,22394 esv2750601 15 76715000 76716971 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94857 S 51 1 0 CHRNB4 22231 esv268345 15 76723677 76724027 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516752,essv2514148,essv2514730,essv2518490,essv2514360 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12234,NA12287,NA12874 esv1639323 15 76723726 76723726 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038820 S 2 1 0 "" HuRef nsv457209 15 76736182 76773860 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534447 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01284 nsv471256 15 76736182 76773860 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545747 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01284 nsv904431 15 76793497 76942143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543666 S 6533 0 1 ADAMTS7,LOC646938 MS16153 esv33573 15 76840539 77080936 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99948,essv94264 M 51 1 1 ADAMTS7,CTSH,MORF4L1,RASGRF1 22086,22394 nsv904432 15 76853987 76962868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585986 S 6533 0 1 ADAMTS7,MORF4L1 IS37646 esv1505425 15 76865406 76865406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597383 S 2 1 0 ADAMTS7 HuRef nsv94789 15 76865446 76865446 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113367 M 24 ADAMTS7 esv994389 15 76871319 76871410 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579065 S 3 0 1 ADAMTS7 HuRef esv988480 15 76881530 76885669 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565167 S 3 1 0 ADAMTS7 HuRef nsv522996 15 76962868 76979471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698666 S 2026 0 1 MORF4L1 nsv1629 15 76989411 77019427 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2119 S 9 1 0 CTSH NA18555 nsv904433 15 77030626 77097343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520084 S 6533 1 0 RASGRF1 SP50679 esv1000067 15 77078657 77087232 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563971 S 3 0 1 RASGRF1 HuRef nsv509577 15 77081239 77163371 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619671 S 4 1 0 RASGRF1 NA10860 nsv525630 15 77131379 77146365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701783 S 2026 0 1 RASGRF1 dgv758e1 15 77142292 77305824 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9458,esv6 M 271 0 0 LOC729911,MIR184,RASGRF1 NA19208 nsv827410 15 77169177 77170856 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433234 S 31 1 0 RASGRF1 NA18972 nsv9282 15 77197915 77201443 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24519 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv5768 15 77198046 77198169 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28209 S 1 1 0 "" SJK nsv516129 15 77218118 77232844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652530,nssv659379 M 2026 0 2 "" nsv519998 15 77226214 77242544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697170 S 2026 0 1 "" nsv520845 15 77234865 77266102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697646 S 2026 0 1 "" esv21472 15 77236048 77236697 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20290 S 451 1 0 "" NA07037 nsv521713 15 77252655 77266102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698340 S 2026 0 1 "" esv4597 15 77262015 77262244 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27038 S 1 0 1 Single Asian sample YH "" YH esv1681298 15 77262071 77262141 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774696 S 2 0 1 "" HuRef esv1000643 15 77328781 77333796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563649 S 3 0 1 LOC729911 HuRef nsv517612 15 77335132 77340959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691375,nssv652507,nssv679021,nssv673081,nssv680041,nssv664652,nssv666851,nssv677527 M 2026 0 8 LOC729911 nsv9283 15 77335153 77341881 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23055 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC729911 NA19173 esv24130 15 77335468 77341693 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16098 S 451 0 1 LOC729911 NA18508 nsv442378 15 77335797 77340887 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC729911 nsv817699 15 77336617 77340959 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416602,nssv1416601 M 112 0 2 LOC729911 NA19171,NA19173 dgv759e1 15 77337962 77340626 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1429,essv12115 M 271 0 0 LOC729911 NA19173 esv2273825 15 77338670 77339080 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696441 S 1 0 1 LOC729911 NA18507 esv2485584 15 77341830 77343292 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368570 S 1 0 1 LOC729911 NA18507 nsv524829 15 77428822 77439797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700830 S 2026 0 1 "" nsv1630 15 77514717 77529315 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1267 S 9 1 0 KIAA1024 NA19240 esv27073 15 77515548 77519036 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10547,esv21392 M 451 1 9 KIAA1024 NA07037,NA12006,NA12239,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502 nsv827411 15 77556958 77557544 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432442 S 31 0 1 "" AK20 esv34027 15 77574890 77786478 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2507680 15 77582373 77583326 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282218 S 1 1 0 "" NA18507 esv273282 15 77582906 77583242 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581441,essv2581142 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv269857 15 77582907 77583235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576079,essv2540976,essv2521111,essv2525927,essv2542525,essv2536682,essv2522875,essv2544105,essv2556625,essv2545698,essv2577414,essv2570493,essv2548212,essv2521533,essv2550793,essv2535463,essv2553944,essv2552154,essv2547466,essv2529241,essv2558419,essv2577800,essv2553641,essv2559656,essv2565524,essv2555006,essv2530588,essv2561770,essv2537536,essv2540114,essv2557301,essv2552713,essv2551870,essv2532238,essv2569257,essv2578793,essv2550123,essv2558915,essv2537007,essv2561673,essv2544850,essv2523603,essv2552818,essv2541356,essv2542842,essv2540408,essv2524461,essv2564984,essv2534669,essv2561125,essv2549404,essv2519533,essv2560076,essv2521926,essv2565989,essv2531230,essv2532877,essv2568036,essv2528860,essv2567315,essv2541583,essv2569880,essv2563834,essv2553306,essv2535804,essv2572300,essv2559352,essv2542053,essv2550874,essv2569137,essv2543644,essv2556392,essv2527975,essv2539465,essv2534119,essv2555279,essv2533738,essv2555553,essv2529952,essv2573851,essv2527427,essv2555831,essv2534485,essv2531558,essv2573429,essv2543153,essv2577177,essv2572128,essv2525739,essv2575526,essv2575162,essv2538797,essv2526581,essv2524137,essv2574969,essv2572786,essv2568551,essv2545223,essv2560270,essv2574273,essv2551338,essv2536358,essv2538080,essv2548692,essv2554393,essv2547869 M 157 106 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12043,NA12044,NA12045,NA12144,NA12155,NA12249,NA12287,NA12489,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12872,NA12873,NA12874,NA12878,NA18489,NA18499,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA18943,NA18944,NA18945,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19143,NA19147,NA19172,NA19190,NA19240,NA19257 esv2503592 15 77591241 77592869 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200613 S 1 0 1 "" NA18507 nsv827412 15 77591649 77592638 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437042,nssv1433999,nssv1428662,nssv1437776,nssv1427075 M 31 0 5 "" AK10,AK6,NA18526,NA18542,NA18949 nsv94344 15 77591689 77592047 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112922 M 24 "" esv29208 15 77591716 77592865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13951 S 451 0 17 "" NA06985,NA07045,NA12489,NA12776,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 esv28026 15 77612552 77613067 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12790 S 451 1 0 "" NA07045 esv2636410 15 77631084 77632728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336224 S 1 0 1 "" NA18507 esv2003625 15 77631784 77632274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816302 S 1 0 1 "" NA18507 esv4574 15 77631839 77632182 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27015 S 1 0 1 Single Asian sample YH "" YH dgv44n6 15 77631955 77632093 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv94556,nsv94771 M 24 "" nsv904434 15 77643271 77667888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522983 S 6533 0 1 "" SP53539 esv1002781 15 77654293 77654366 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583730 S 3 0 1 "" HuRef nsv1631 15 77663014 77670740 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9518 S 9 1 0 "" NA18507 esv4421 15 77678831 77679368 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26862 S 1 0 1 Single Asian sample YH "" YH esv6739 15 77678909 77679220 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29180 S 1 0 1 "" SJK esv2498379 15 77698022 77699475 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230067 S 1 0 1 "" NA18507 esv2364013 15 77698445 77699167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981232 S 1 0 1 "" NA18507 esv3530 15 77698602 77699005 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25971 S 1 0 1 Single Asian sample YH "" YH esv6211 15 77698653 77698953 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28652 S 1 0 1 "" SJK esv2480990 15 77698654 77698965 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226566 S 1 0 1 "" NA18507 nsv833064 15 77706273 77907065 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452042 S 95 0 1 "" nsv507792 15 77707987 77713987 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623195 S 4 1 0 "" NA18994 dgv760e1 15 77737577 77850372 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20867,esv1199 M 271 0 0 "" NA12145 esv34113 15 77743844 77775197 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2021860 15 77756755 77757176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640691 S 1 0 1 "" NA18507 esv4810 15 77756847 77757075 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27251 S 1 0 1 Single Asian sample YH "" YH esv1210405 15 77823497 77823546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899963 S 2 0 1 "" HuRef nsv833065 15 77840058 78061877 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452043 S 95 0 1 BCL2A1,C15orf37,MTHFS,ST20,ST20-MTHFS nsv516206 15 77847322 77852392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692280,nssv686291,nssv666819 M 2026 0 3 "" esv7109 15 77849955 77850038 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29550 S 1 1 0 "" SJK nsv525590 15 77852392 77859875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701732 S 2026 0 1 "" esv1070490 15 77919593 77919649 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325232 S 2 0 1 "" HuRef esv28440 15 77923788 77924258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20315 S 451 0 1 MTHFS,ST20-MTHFS NA18508 nsv833066 15 77957475 78112638 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452044 S 95 0 1 BCL2A1,C15orf37,MTHFS,ST20,ST20-MTHFS nsv510406 15 77985681 77991681 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618416 S 4 0 1 ST20,ST20-MTHFS CHM nsv904435 15 77989961 78044410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520309 S 6533 1 0 BCL2A1,C15orf37,ST20,ST20-MTHFS SP50809 dgv155n21 15 77998468 78003070 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524197,nsv525035 M 2026 0 2 C15orf37,ST20,ST20-MTHFS esv1181032 15 78084504 78084504 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904827 S 2 1 0 "" HuRef esv1752871 15 78084600 78084600 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775509 S 2 1 0 "" HuRef nsv526014 15 78124281 78230091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702242 S 2026 0 1 ZFAND6 nsv1634 15 78206366 78251710 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6644 S 9 0 1 FAH,ZFAND6 NA12156 nsv817700 15 78240785 78247579 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417190 S 112 0 1 FAH NA18558 nsv1635 15 78289086 78324339 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1268 S 9 1 0 "" NA19240 nsv442379 15 78310026 78313661 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv1636 15 78366361 78398721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5570 S 9 1 0 LOC283688 NA19129 esv271818 15 78406557 78406642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514484 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC283688 NA12874 nsv471685 15 78610256 78790444 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549896 S 48 1 0 ARNT2,FAM108C1 NA10493 esv273251 15 78645583 78645683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580393,essv2579864 M 7 2 0 Samples from several populations that are part of the HapMap project. ARNT2 NA12891,NA12892 esv2004346 15 78646503 78646937 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743192 S 1 0 1 ARNT2 NA18507 nsv94357 15 78911758 78918685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112935 M 24 KIAA1199 nsv94617 15 78992928 78992928 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113195 M 24 KIAA1199 nsv1637 15 79070446 79115239 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7206 S 9 0 1 MESDC1,MIR4514 NA12156 esv28677 15 79079549 79082834 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20843 S 451 0 2 MESDC1 NA07037,NA18511 nsv827413 15 79127602 79128072 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432443 S 31 0 1 "" AK20 nsv518014 15 79161186 79169043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695426 S 2026 0 1 "" esv272023 15 79179622 79179962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565865,essv2576053,essv2546297,essv2526049,essv2542254,essv2522824,essv2544070,essv2570889,essv2556471,essv2545553,essv2523194,essv2531826,essv2577230,essv2548504,essv2521648,essv2576780,essv2550773,essv2535052,essv2554324,essv2552080,essv2520457,essv2529296,essv2558328,essv2564558,essv2577730,essv2553621,essv2576207,essv2520184,essv2564222,essv2554874,essv2537460,essv2528636,essv2546876,essv2556986,essv2562935,essv2523824,essv2542972,essv2524457,essv2539857,essv2541573,essv2563785,essv2559336,essv2550925,essv2573156,essv2575189,essv2535907,essv2548866,essv2533088,essv2554763,essv2547768,essv2524995 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA11829,NA11830,NA11881,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12828,NA12872,NA12878,NA12891,NA12892,NA18501,NA18532,NA18537,NA18550,NA18555,NA18563,NA18592,NA18603,NA18638,NA18858,NA18942,NA19102 esv274612 15 79179623 79179960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582200,essv2582759,essv2583262 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2303520 15 79209065 79209479 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667711 S 1 0 1 "" NA18507 esv275515 15 79250438 79253034 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585474 S 1250 0 1 "" nsv904436 15 79277375 79351933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513594 S 6533 0 1 IL16 SP55803 nsv520339 15 79406760 79413780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684116,nssv685041,nssv679948,nssv678725,nssv692346,nssv663070 M 2026 0 6 TMC3 nsv525498 15 79561102 79565753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701630 S 2026 0 1 "" nsv1638 15 79588936 79627530 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7207 S 9 0 1 "" NA12156 nsv904437 15 79632208 79925358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540545 S 6533 1 0 "" MS14907 esv1960458 15 79672699 79673090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974194 S 1 0 1 "" NA18507 esv8194 15 79700623 79701081 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30635 S 1 0 0 "" SJK nsv507793 15 79724727 79730727 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620590,nssv623196,nssv619153 M 4 3 0 "" NA10860,NA15510,NA18994 dgv761e1 15 79728575 80011124 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv605,essv17442 M 271 0 0 "" NA12043 dgv156n21 15 79754057 79769178 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527151,nsv520902 M 2026 0 2 "" nsv519643 15 79763098 79765792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657317,nssv659528 M 2026 0 2 "" esv2751537 15 79763100 79844345 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982297,essv6982298 M 771 1 0 "" BEC_414 dgv2426n71 15 79769178 79889995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904438,nsv904439 M 6533 3 0 "" IS33836,IS36647,IS38294 essv23117 15 79788150 79874464 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv34339 15 79788669 79874464 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978622,essv6978623,essv6986664,essv6990262 M 771 1 0 "" NA12043 nsv827414 15 79789688 79795065 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422962 S 31 1 0 "" NA18552 nsv517309 15 79795368 79875169 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704690,nssv651672,nssv675388 M 2026 2 1 "" nsv817701 15 79802980 79875169 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417017 S 112 1 0 "" NA12043 nsv524176 15 79820230 79946286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700057 S 2026 0 1 "" esv272041 15 79822694 79823021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557958,essv2576075,essv2546602,essv2526139,essv2536668,essv2522971,essv2544167,essv2545606,essv2523252,essv2570452,essv2548327,essv2525444,essv2535163,essv2564387,essv2553738,essv2576222,essv2564203,essv2561875,essv2537371,essv2546982,essv2552364,essv2569162,essv2536006,essv2548696,essv2533262,essv2554734,essv2563128 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA10847,NA10851,NA11830,NA11881,NA11918,NA11920,NA11931,NA11992,NA12003,NA12004,NA12044,NA12045,NA12156,NA12249,NA12751,NA12763,NA12814,NA12828,NA12874,NA12878,NA12892,NA18502,NA18861 esv273407 15 79822696 79823023 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581739,essv2582969 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv26801 15 79883451 79900946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14885 S 451 0 1 "" NA07045 nsv523340 15 79944610 80052156 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699087 S 2026 1 0 "" nsv833067 15 80022035 80237540 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452046,nssv1452045 M 95 1 1 EFTUD1,MEX3B nsv1639 15 80056532 80089492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4168 S 9 1 0 "" NA12878 esv2422504 15 80080119 80213455 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161251 S 181 1 0 EFTUD1,MEX3B ND04302 nsv827415 15 80120403 80127824 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433235 S 31 1 0 MEX3B NA18972 nsv457211 15 80149180 80183402 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534448 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00105 nsv528511 15 80178342 80191760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705118 S 2026 0 1 "" esv29205 15 80183942 80188532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16537 S 451 0 1 "" NA19225 dgv321n27 15 80241338 80360310 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457212,nsv457213 M 1557 2 0 EFTUD1,FAM154B 1780854325_A,NINDS_115 esv21471 15 80270066 80273888 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19080 S 451 0 5 EFTUD1 NA07037,NA12287,NA15510,NA19108,NA19147 dgv2427n71 15 80311599 80378137 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904441,nsv904440 M 6533 2 0 EFTUD1,FAM154B SP55557,SP57789 nsv457214 15 80324409 80327229 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534451 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFTUD1 HGDP00476 nsv516603 15 80324409 80327229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669504,nssv660827,nssv662812 M 2026 0 3 EFTUD1 nsv904442 15 80327229 80358101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502059 S 6533 0 1 EFTUD1,FAM154B SP50725 nsv904443 15 80340527 80358835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512900 S 6533 0 1 EFTUD1,FAM154B SP55650 dgv2428n71 15 80376332 80403644 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904444,nsv904445 M 6533 0 6 "" IS30197,IS33162,IS35007,IS35245,IS38388,IS40799 nsv904446 15 80386361 80615168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592699 S 6533 1 0 AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC440300,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 IS39243 nsv510669 15 80387821 80808313 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618929,nssv622697,nssv620086 M 4 0 3 AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC440300,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 NA10860,NA15510,NA18994 esv24498 15 80416064 80470207 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19352,esv19566,esv13042,esv12588,esv12982 M 451 12 5 GOLGA6L10,UBE2Q2P2,UBE2Q2P3 NA07037,NA11894,NA12044,NA12489,NA12749,NA12776,NA12878,NA18858,NA18861,NA18909,NA18916,NA19108,NA19129,NA19190,NA19225,NA19257 nsv9284 15 80431274 80476043 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26298,nssv24545,nssv21903,nssv22066,nssv19895,nssv20381 M 31 5 1 Samples from several populations that are part of the HapMap project. UBE2Q2P2,UBE2Q2P3 NA07048,NA10847,NA12872,NA18504,NA18552,NA18860 esv33165 15 80451465 80838926 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100324 S 51 0 1 AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC440300,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 22300 esv21531 15 80470353 80616664 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13473,esv16001,esv17731,esv13479,esv16849,esv18531,esv18754,esv18177 M 451 19 7 AGSK1,GOLGA6L9,LOC440297,LOC440300,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 NA11894,NA12004,NA12044,NA12239,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19257 esv999520 15 80480642 80580301 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586082 S 3 1 0 AGSK1,GOLGA6L9,LOC440297,LOC440300,LOC727849,UBE2Q2P2,UBE2Q2P3 HuRef nsv9285 15 80508242 80851248 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23655,nssv24657,nssv22156,nssv23036,nssv19840,nssv21933,nssv26315,nssv20441,nssv21482,nssv20471,nssv22126,nssv23712,nssv22694,nssv24631,nssv19925,nssv25874 M 31 5 9 Samples from several populations that are part of the HapMap project. AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC440300,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 NA07029,NA07048,NA10847,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18537,NA18552,NA18860,NA19132 nsv428309 15 80528436 81107580 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452801,nssv452779,nssv452802,nssv452800,nssv452799,nssv452803,nssv452796 M 62 7 0 AGSK1,CPEB1,GOLGA6L10,GOLGA6L9,LOC440297,LOC440300,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 HGDP00449,HGDP00463,HGDP01087,HGDP01088,HGDP01089,HGDP01094,NA19096 essv3955 15 80676701 80772199 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AGSK1,LOC440297,LOC727849 NA18970 dgv762e1 15 80676701 80887174 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16828,essv9322,essv5389,essv22867,essv15400 M 271 0 0 AGSK1,GOLGA6L10,LOC440297,LOC727849,UBE2Q2P2,UBE2Q2P3 NA12760,NA18563,NA18853,NA19203,NA19205 dgv763e1 15 80676701 81024206 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20311,essv13704,essv9156 M 271 0 0 AGSK1,CPEB1,GOLGA6L10,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 NA12236,NA18860,NA19119 dgv764e1 15 80676701 81107580 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1871,essv16675,essv20786,essv5261,essv4785,essv12215,essv7588,essv19561,essv24676,essv6994,essv15809,essv14338,essv7227,essv15615,essv19277,essv6243,esv421,essv12851,essv12981,essv10823,essv16742,essv10171,essv23534,essv17923,essv18302,essv19993,essv23491,essv11179,essv10334,essv4546,essv423,essv3099,essv10917 M 271 0 0 AGSK1,CPEB1,GOLGA6L10,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L,UBE2Q2P2,UBE2Q2P3 NA06993,NA07034,NA07048,NA10838,NA10846,NA11829,NA12003,NA12146,NA12864,NA18506,NA18524,NA18545,NA18547,NA18612,NA18620,NA18624,NA18636,NA18859,NA18871,NA18872,NA18912,NA18952,NA18969,NA18976,NA19101,NA19120,NA19130,NA19142,NA19194,NA19209,NA19211,NA19223 esv21862 15 80676755 80857578 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21257,esv11238,esv21199,esv20276,esv17433,esv13428,esv11776 M 451 23 4 AGSK1,GOLGA6L10,LOC440297,LOC727849,UBE2Q2P2,UBE2Q2P3 NA07037,NA07045,NA11894,NA11995,NA12004,NA12239,NA12489,NA12776,NA12828,NA12878,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19257 nsv833069 15 80733755 80957049 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452048 S 95 0 1 AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC727849,UBE2Q2P2,UBE2Q2P3 nsv904447 15 80749328 80896282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598512 S 6533 0 1 AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC727849,UBE2Q2P2,UBE2Q2P3 IS41317 nsv904448 15 80749328 80943261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592700 S 6533 1 0 AGSK1,GOLGA6L10,GOLGA6L9,LOC440297,LOC727849,UBE2Q2P2,UBE2Q2P3 IS39243 nsv904449 15 80871124 80895216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536116 S 6533 0 1 UBE2Q2P2,UBE2Q2P3 MS12630 nsv469699 15 80885963 81004768 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649632 M 265 0 0 Samples from several populations that are part of the HapMap project. AGSK1,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L nsv471686 15 80885964 81004768 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550158,nssv550156,nssv550157,nssv550155 M 48 2 2 AGSK1,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L NA10493,NA10969,NA11521,NA11523 esv22027 15 80893495 81016695 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9735,esv14041,esv10126,esv16851,esv15860,esv16292,esv16583,esv10828,esv12845 M 451 21 7 AGSK1,CPEB1,GOLGA6L9,LOC440297,LOC727849,RPS17,RPS17L NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12489,NA12749,NA12776,NA12828,NA12878,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv9286 15 80894767 80983078 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22186,nssv19955,nssv26332 M 31 2 1 Samples from several populations that are part of the HapMap project. AGSK1,GOLGA6L9,LOC440297,LOC727849 NA10847,NA18552,NA18860 nsv833071 15 80920701 81107565 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452049 S 95 1 0 AGSK1,CPEB1,LOC440297,LOC727849,RPS17,RPS17L nsv9287 15 80982275 80983944 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19870,nssv22723,nssv21512,nssv24683,nssv23713,nssv23094 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA12155,NA12740,NA12802,NA18504,NA18537 esv2449307 15 81071444 81072914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313214 S 1 0 1 CPEB1 NA18507 nsv1640 15 81071781 81106912 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1269 S 9 1 0 CPEB1 NA19240 esv2160515 15 81072143 81072845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785853 S 1 0 1 CPEB1 NA18507 esv1651554 15 81072290 81072639 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933415 S 2 0 1 CPEB1 HuRef esv4952 15 81072297 81072775 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27393 S 1 0 1 Single Asian sample YH CPEB1 YH esv2566465 15 81072328 81072638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283399 S 1 0 1 CPEB1 NA18507 esv5568 15 81072346 81072645 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28009 S 1 0 1 CPEB1 SJK esv34318 15 81080610 81250549 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979095,essv6988101,essv6989066 M 771 0 1 AP3B2,CPEB1,FSD2,LOC283693,LOC338963,SCARNA15 NA12891 nsv817702 15 81096516 81254478 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416192 S 112 0 1 AP3B2,CPEB1,FSD2,LOC283693,LOC338963,SCARNA15 NA12891 esv33057 15 81111888 81114643 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100630 S 51 1 0 CPEB1 21656 esv23134 15 81124192 81129427 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18367 S 451 1 0 AP3B2 NA18511 nsv94434 15 81140496 81140654 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113012 M 24 AP3B2 nsv904450 15 81144248 81192394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502129 S 6533 1 0 AP3B2,LOC283693,LOC338963 SP51035 nsv469557 15 81214817 81351633 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649668 M 265 0 0 Samples from several populations that are part of the HapMap project. FSD2,HOMER2,SCARNA15,WHAMM nsv471687 15 81214818 81351633 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549241 S 48 1 0 FSD2,HOMER2,SCARNA15,WHAMM NA10493 nsv9288 15 81276538 81293882 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25895 S 31 0 1 Samples from several populations that are part of the HapMap project. WHAMM NA19132 nsv509578 15 81341243 81371807 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619672 S 4 1 0 HOMER2 NA10860 nsv1641 15 81343492 81356434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1270,nssv6645 M 9 2 0 HOMER2 NA12156,NA19240 esv269490 15 81348659 81354756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558115,essv2565647,essv2540764,essv2546151,essv2525880,essv2536676,essv2522845,essv2544119,essv2570979,essv2556549,essv2568176,essv2531732,essv2521662,essv2550540,essv2525286,essv2535381,essv2552239,essv2520431,essv2547311,essv2529177,essv2558437,essv2577805,essv2565270,essv2576383,essv2520076,essv2555035,essv2547024,essv2530512,essv2540072,essv2520875,essv2557358,essv2551800,essv2532265,essv2569351,essv2550087,essv2544667,essv2541161,essv2540456,essv2561122,essv2541524,essv2563713,essv2553490,essv2559091,essv2551081,essv2543469,essv2556253,essv2539444,essv2573972,essv2531300,essv2571898,essv2529813,essv2575594,essv2526318,essv2560632,essv2574769,essv2572856,essv2568493,essv2560169,essv2549632,essv2545802,essv2574067,essv2537753,essv2548899,essv2532970,essv2547983 M 157 65 0 Samples from several populations that are part of the HapMap project. HOMER2 NA07000,NA07037,NA07051,NA07347,NA10851,NA11829,NA11831,NA11881,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12006,NA12144,NA12155,NA12156,NA12249,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12812,NA12814,NA12815,NA12872,NA12892,NA18486,NA18489,NA18498,NA18499,NA18504,NA18505,NA18508,NA18511,NA18526,NA18545,NA18552,NA18562,NA18592,NA18603,NA18605,NA18638,NA18858,NA18870,NA18871,NA18912,NA18951,NA18961,NA18973,NA19093,NA19099,NA19114,NA19116,NA19138,NA19143,NA19147,NA19190,NA19225,NA19239,NA19240 esv273062 15 81348664 81354733 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583102,essv2584531,essv2583396 M 7 3 0 Samples from several populations that are part of the HapMap project. HOMER2 NA12892,NA19239,NA19240 nsv522673 15 81356715 81361118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706078 S 2026 0 1 HOMER2 esv27643 15 81393322 81395792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12334 S 451 0 1 HOMER2 NA18505 esv28659 15 81448701 81450359 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18735,esv18356 M 451 0 4 C15orf40,FAM103A1 NA18502,NA18523,NA18916,NA19257 nsv7269 15 81510680 81538145 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1271 S 9 0 0 BTBD1,MIR4515 NA19240 esv2588536 15 81564196 81565810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306456 S 1 0 1 "" NA18507 esv2221344 15 81564687 81565404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721164 S 1 0 1 "" NA18507 esv8098 15 81564885 81565209 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30539 S 1 0 1 "" SJK nsv94888 15 81636696 81636696 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113466 M 24 HDGFRP3 esv2478815 15 81650642 81652066 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212050 S 1 0 1 HDGFRP3 NA18507 esv2479225 15 81687421 81690747 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213714 S 1 0 1 "" NA18507 esv1746195 15 81689048 81689048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618150 S 2 1 0 "" HuRef esv26814 15 81862565 81863235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11103 S 451 0 1 "" NA19147 esv1004657 15 81875793 81881766 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565709 S 3 1 0 "" HuRef esv26526 15 81877197 81880125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10392,esv19869 M 451 0 5 "" NA18502,NA19147,NA19190,NA19225,NA19257 nsv457216 15 81998554 82026934 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534452 S 1557 0 1 SH3GL3 1787431166_A nsv1642 15 82002172 82046860 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7208 S 9 0 1 SH3GL3 NA12156 nsv833072 15 82048724 82205895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452050,nssv1452051 M 95 2 0 ADAMTSL3,SH3GL3 esv3630 15 82071589 82071912 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26071 S 1 0 1 Single Asian sample YH SH3GL3 YH esv5633 15 82071627 82071845 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28074 S 1 0 1 SH3GL3 SJK nsv524815 15 82140127 82143780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700809 S 2026 0 1 ADAMTSL3 nsv833073 15 82149073 82355602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452052 S 95 0 1 ADAMTSL3 nsv513435 15 82153951 82155719 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625836 S 1 1 0 ADAMTSL3 1 esv2623099 15 82154647 82155525 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224075 S 1 1 0 ADAMTSL3 NA18507 esv1949100 15 82283488 82283895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668949 S 1 0 1 ADAMTSL3 NA18507 nsv904451 15 82294315 82513525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517514 S 6533 0 1 ADAMTSL3 SP57299 dgv765e1 15 82330480 82359162 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1069,essv22015 M 271 0 0 ADAMTSL3 NA12815 esv2421901 15 82331721 82334554 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130532,essv5069431,essv5025292,essv5062564,essv5150781,essv5131307,essv5034921,essv5050662,essv5054746,essv5129431,essv5021412,essv5005596,essv5100429,essv5014196,essv5033851,essv5154104,essv5058500,essv5060460,essv5123562,essv5141724,essv5099797,essv5145312,essv5139131,essv5080373,essv5127469,essv5075354,essv5063090,essv5122824,essv5100468,essv5053081,essv5089761,essv5019934,essv5140636,essv5066559,essv5006653,essv5110987,essv5145299,essv5007446,essv5076594,essv5041661,essv5005357,essv5058907,essv5048209,essv5114995,essv5122494,essv5002729,essv5144285,essv5041674,essv5149960,essv5134264,essv5104507,essv5029171,essv5058847,essv5094733,essv5122147,essv5123984,essv5113995,essv5128066,essv5071938,essv5090043,essv5083427,essv5058216,essv5107447,essv5018726,essv5018055,essv5117458,essv5107848,essv5057611,essv5125066,essv5043517,essv5021486,essv5158906,essv5147230,essv5066878,essv5034916,essv5119155,essv5146898,essv5047801,essv5097412,essv5053626,essv5136328,essv5093444,essv5132950,essv5151169,essv5104279,essv5148537,essv5023813,essv5032761,essv5058180,essv5092539,essv5100630,essv5052376,essv5048066,essv5150937,essv5096426,essv5090298,essv5151915,essv5099586,essv5072297,essv5004437,essv5143162,essv5029789,essv5078180,essv5080412,essv5042715,essv5073762,essv5121276,essv5081964,essv5080107,essv5104256,essv5133977,essv5052400,essv5044285,essv5127241,essv5019970,essv5014015,essv5038920,essv5008350,essv5093620,essv5022338,essv5046608,essv5103972,essv5045117,essv5042513,essv5055983,essv5076126,essv5063875,essv5090810,essv5122604,essv5134802,essv5124328,essv5009760,essv5026932,essv5067074,essv5061284,essv5089576,essv5075319,essv5122166,essv5100433,essv5005295,essv5154957,essv5079762,essv5026531,essv5064348,essv5010022,essv5057966,essv5100439,essv5042838,essv5040385,essv5035177,essv5073207,essv5062412,essv5088461,essv5143415,essv5020520,essv5051817,essv5104053,essv5074937,essv5090862,essv5042686,essv5116644,essv5082851,essv5107776,essv5126987,essv5158489,essv5073622,essv5144591,essv5046396,essv5097874,essv5052300,essv5047904,essv5149579,essv5091763,essv5132335,essv5060315,essv5089672,essv5009184,essv5160931,essv5145147,essv5155709,essv5051228,essv5145986,essv5061883,essv5111162,essv5089346,essv5138885,essv5136263,essv5067192,essv5094837,essv5070751,essv5094348,essv5152142,essv5085851,essv5132938,essv5114024,essv5047564,essv5041778,essv5066012,essv5016593,essv5085768,essv5024215,essv5082367,essv5055891,essv5020754,essv5008475,essv5034237,essv5109820,essv5151576,essv5080936,essv5138241,essv5053084,essv5027079,essv5101728,essv5022925,essv5024916,essv5022336,essv5127777,essv5016659,essv5106484,essv5035674,essv5048801,essv5040960,essv5033105,essv5130645,essv5126962,essv5061232,essv5124231,essv5048144,essv5151330,essv5074310,essv5142020,essv5039056,essv5088662,essv5084103,essv5026556,essv5152691,essv5100162,essv5053710,essv5128020,essv5151124,essv5074758,essv5058255,essv5145667,essv5074634,essv5145448,essv5033738,essv5066020,essv5018028,essv5066184,essv5015760,essv5161087,essv5006415,essv5127510,essv5091576,essv5013920,essv5124978,essv5084795,essv5044307,essv5096070,essv5112289,essv5144770,essv5159970,essv5092059,essv5072575,essv5145389,essv5052235,essv5048437,essv5148028,essv5009767,essv5010212,essv5034966,essv5107696,essv5115371,essv5143282,essv5099622,essv5051762,essv5070432,essv5120664,essv5075387,essv5024115,essv5132565,essv5112284,essv5052507,essv5115514,essv5137624,essv5062292,essv5147133,essv5019411,essv5126870,essv5130148,essv5152365,essv5113463,essv5018782,essv5147836,essv5120599,essv5063362,essv5112873,essv5148972,essv5003906,essv5026905,essv5010130,essv5117505,essv5029603,essv5055338,essv5002817,essv5158491,essv5046547,essv5021819,essv5068049,essv5061263,essv5078925,essv5108707,essv5093549,essv5063453,essv5114525,essv5012404,essv5035441,essv5159001,essv5034453,essv5150656,essv5112779,essv5074123,essv5120801,essv5023680,essv5083431,essv5096617,essv5155899,essv5049536,essv5004078,essv5022112,essv5099328,essv5072195,essv5143555,essv5126494,essv5005998,essv5108658,essv5095347,essv5149067,essv5040578,essv5148461,essv5159573,essv5067802,essv5145838,essv5002977,essv5137520,essv5033338,essv5067498,essv5010847,essv5038083,essv5052007,essv5069546,essv5065075,essv5022980,essv5058815,essv5125356,essv5154868,essv5126211,essv5140765,essv5035764,essv5080089,essv5034505,essv5048259,essv5013349,essv5033076,essv5077614,essv5037278,essv5057702,essv5097145,essv5041872,essv5089250,essv5116267,essv5065887,essv5131705,essv5093454,essv5080179,essv5032774,essv5045716,essv5016688,essv5085937,essv5092554,essv5053017,essv5006191,essv5160914,essv5040848,essv5155517,essv5151558,essv5028295,essv5082598,essv5027012,essv5066896,essv5112784,essv5040387,essv5005685,essv5008783,essv5098023,essv5090621,essv5033806,essv5066632,essv5030756,essv5136575,essv5114200,essv5062021,essv5110715,essv5077269,essv5054129,essv5073539,essv5075352,essv5159542,essv5073640,essv5002866,essv5085434,essv5043980,essv5030812,essv5081313,essv5095098,essv5088571,essv5013292,essv5081464,essv5019151,essv5075871,essv5142735,essv5069550,essv5117201,essv5103642 M 1184 0 424 ADAMTSL3 NA07000,NA07029,NA07347,NA07348,NA07357,NA10838,NA10854,NA11840,NA11893,NA12003,NA12056,NA12146,NA12155,NA12275,NA12282,NA12283,NA12335,NA12340,NA12344,NA12347,NA12375,NA12383,NA12718,NA12748,NA12753,NA12762,NA12767,NA12777,NA12778,NA12813,NA12815,NA12829,NA12865,NA12873,NA12874,NA12875,NA12878,NA12892,NA17965,NA17966,NA17975,NA17981,NA17982,NA17983,NA17986,NA17989,NA17990,NA17996,NA17998,NA17999,NA18101,NA18102,NA18112,NA18114,NA18117,NA18118,NA18122,NA18125,NA18128,NA18129,NA18132,NA18133,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18146,NA18152,NA18153,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18486,NA18489,NA18503,NA18504,NA18505,NA18508,NA18510,NA18518,NA18519,NA18520,NA18526,NA18532,NA18536,NA18543,NA18544,NA18545,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18562,NA18563,NA18564,NA18572,NA18579,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18608,NA18614,NA18618,NA18619,NA18620,NA18623,NA18624,NA18631,NA18633,NA18634,NA18636,NA18637,NA18639,NA18640,NA18641,NA18643,NA18645,NA18647,NA18682,NA18694,NA18696,NA18702,NA18740,NA18745,NA18757,NA18853,NA18854,NA18855,NA18867,NA18868,NA18869,NA18870,NA18872,NA18873,NA18875,NA18923,NA18925,NA18933,NA18934,NA18935,NA18940,NA18942,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18973,NA18975,NA18978,NA18979,NA18981,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19001,NA19002,NA19009,NA19010,NA19027,NA19038,NA19041,NA19046,NA19054,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19067,NA19068,NA19074,NA19075,NA19077,NA19079,NA19080,NA19084,NA19085,NA19086,NA19087,NA19093,NA19095,NA19096,NA19097,NA19099,NA19102,NA19103,NA19107,NA19109,NA19113,NA19115,NA19118,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19131,NA19141,NA19143,NA19144,NA19146,NA19153,NA19160,NA19171,NA19172,NA19173,NA19174,NA19176,NA19182,NA19192,NA19198,NA19199,NA19209,NA19210,NA19213,NA19215,NA19222,NA19224,NA19225,NA19236,NA19237,NA19308,NA19311,NA19315,NA19317,NA19318,NA19319,NA19332,NA19347,NA19350,NA19360,NA19371,NA19372,NA19373,NA19377,NA19379,NA19381,NA19382,NA19383,NA19393,NA19394,NA19399,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19439,NA19444,NA19455,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19473,NA19658,NA19659,NA19660,NA19662,NA19703,NA19704,NA19705,NA19708,NA19711,NA19714,NA19719,NA19725,NA19727,NA19749,NA19751,NA19755,NA19774,NA19789,NA19790,NA19818,NA19819,NA19834,NA19836,NA19900,NA19908,NA19919,NA19982,NA20127,NA20128,NA20287,NA20288,NA20292,NA20294,NA20295,NA20297,NA20334,NA20342,NA20347,NA20348,NA20357,NA20359,NA20360,NA20363,NA20364,NA20504,NA20506,NA20509,NA20520,NA20521,NA20524,NA20528,NA20540,NA20541,NA20544,NA20586,NA20761,NA20770,NA20774,NA20786,NA20792,NA20796,NA20807,NA20815,NA20856,NA20890,NA20894,NA20908,NA21300,NA21301,NA21302,NA21317,NA21320,NA21339,NA21344,NA21352,NA21356,NA21357,NA21362,NA21363,NA21367,NA21371,NA21379,NA21382,NA21385,NA21388,NA21390,NA21391,NA21403,NA21415,NA21417,NA21421,NA21424,NA21434,NA21436,NA21451,NA21453,NA21473,NA21476,NA21493,NA21494,NA21510,NA21512,NA21517,NA21520,NA21523,NA21524,NA21525,NA21529,NA21575,NA21576,NA21578,NA21580,NA21596,NA21599,NA21613,NA21615,NA21616,NA21631,NA21648,NA21689,NA21716,NA21717,NA21718,NA21719,NA21723,NA21733,NA21740,NA21768,NA21776,NA21784,NA21825 nsv442707 15 82331742 82334554 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ADAMTSL3 esv25908 15 82332196 82334814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15935,esv10818 M 451 0 6 ADAMTSL3 NA12878,NA18505,NA18907,NA19099,NA19129,NA19225 nsv9289 15 82332284 82335660 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23741,nssv20662,nssv22280,nssv21963,nssv20119,nssv23113,nssv21714,nssv23732,nssv22308,nssv24709,nssv22487,nssv22216,nssv21542 M 31 0 13 Samples from several populations that are part of the HapMap project. ADAMTSL3 NA07029,NA07048,NA12155,NA18504,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18975,NA19144,NA19173 dgv444n67 15 82332330 82334904 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827417,nsv827416 M 31 0 17 ADAMTSL3 AK10,AK12,AK18,AK2,AK4,NA18526,NA18547,NA18552,NA18564,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv514787 15 82332400 82334752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628245 S 1414 0 1 ADAMTSL3 nsv498854 15 82332438 82334853 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585715 S 9 0 1 ADAMTSL3 esv2421820 15 82333889 82334554 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5032897,essv5085504,essv5151435,essv5011668,essv5010165,essv5028408,essv5063427,essv5127545,essv5139032,essv5035959,essv5125590,essv5008191,essv5063778,essv5134123,essv5012842,essv5061875,essv5038481,essv5081970,essv5119187,essv5124884,essv5113086,essv5064583,essv5133029,essv5075727,essv5031249,essv5052284,essv5023912,essv5112591,essv5108764,essv5146584,essv5075595,essv5088563,essv5003567,essv5156204,essv5082938,essv5143348,essv5006285,essv5072647,essv5111914,essv5147511,essv5019547,essv5012163,essv5079290,essv5084155,essv5070684,essv5113270,essv5055660,essv5049521,essv5036397,essv5090433,essv5119638,essv5033137,essv5090064,essv5060405,essv5120731,essv5024616,essv5087933,essv5147048,essv5048435,essv5063215,essv5160011,essv5021526,essv5011982,essv5079451,essv5046518,essv5076727,essv5077191,essv5097812,essv5069026,essv5130788,essv5050409,essv5067176,essv5127992,essv5077398,essv5138667,essv5070607,essv5090818,essv5118127,essv5052662,essv5066085,essv5098105,essv5032721,essv5002178,essv5149121,essv5158988,essv5136771,essv5015921,essv5056159,essv5012130,essv5031827,essv5048656,essv5097000,essv5124659,essv5031340,essv5084470,essv5107561,essv5024455,essv5115161,essv5051833,essv5112923,essv5152345,essv5141935,essv5160370,essv5053897,essv5051905,essv5023562,essv5148123,essv5145454,essv5088757,essv5146223,essv5114609,essv5151446,essv5015724,essv5072757,essv5071924,essv5028723,essv5115447,essv5040751,essv5139122,essv5079633,essv5028712,essv5097847,essv5004755,essv5100504,essv5067044,essv5140264,essv5112908,essv5027884,essv5026239,essv5140566,essv5135232,essv5028635,essv5068873,essv5047599,essv5092308,essv5049648,essv5156801,essv5081043,essv5039192,essv5103736,essv5049726,essv5044456,essv5092703,essv5040420,essv5109154,essv5021153,essv5020823,essv5042336,essv5137811,essv5012371,essv5006764,essv5144137,essv5140280,essv5010718,essv5149521,essv5073082,essv5159122,essv5010090,essv5115748,essv5059093,essv5013790,essv5143808,essv5130802,essv5151168,essv5013929,essv5155608,essv5117431,essv5102553,essv5143389,essv5055635,essv5089396,essv5081097,essv5003685,essv5018351,essv5124117,essv5082084,essv5062962,essv5120228,essv5054098,essv5129054,essv5003795,essv5064402,essv5047014,essv5117701,essv5145748,essv5002296,essv5138512,essv5045929,essv5151093,essv5058860,essv5136308,essv5148290,essv5034660,essv5034733,essv5107954,essv5154704,essv5067142,essv5084205,essv5154329,essv5141863,essv5069821,essv5069127,essv5051230,essv5077968,essv5127090,essv5156218,essv5106516,essv5074049,essv5031910,essv5073005,essv5119541,essv5132272,essv5081749,essv5123853,essv5111732,essv5042425,essv5092111,essv5120223,essv5126820,essv5050162,essv5076877,essv5089316,essv5080784,essv5091096,essv5133439,essv5127323,essv5080258,essv5059372,essv5031915,essv5100907,essv5064290,essv5092774,essv5025247,essv5028256,essv5058659,essv5076392,essv5079439,essv5097050,essv5055565,essv5011117,essv5043716,essv5133035,essv5068775,essv5014952,essv5124668,essv5114872,essv5130601,essv5105254,essv5081147,essv5150210,essv5115691,essv5034702,essv5070383,essv5131170,essv5145138,essv5148264,essv5135856,essv5008211,essv5066647,essv5081486,essv5114329,essv5107898,essv5137841,essv5087163,essv5142473,essv5013847,essv5056566,essv5085531,essv5102334,essv5078826,essv5127818,essv5051735,essv5032691,essv5115554,essv5139240,essv5089712,essv5123688,essv5054223,essv5087480,essv5089831,essv5123080,essv5119668,essv5128001,essv5086807,essv5019243,essv5055516,essv5075566,essv5158809,essv5030026,essv5013492,essv5041890,essv5070921,essv5022008,essv5089441,essv5088194,essv5124540,essv5101451,essv5003395,essv5063839,essv5093971,essv5118812,essv5017381,essv5040225,essv5116527,essv5118989,essv5020623,essv5160069,essv5111854,essv5038699,essv5027777,essv5022381,essv5085428,essv5004557,essv5101664,essv5151674,essv5032157,essv5100663,essv5072208,essv5110219,essv5127397,essv5092130,essv5138947,essv5149992,essv5005837,essv5003076,essv5148140,essv5014924,essv5108635,essv5114543,essv5036413,essv5070463,essv5037298,essv5129795,essv5097635,essv5093101,essv5068218,essv5017799,essv5129452,essv5011705,essv5117758,essv5013046,essv5111012,essv5110953,essv5018137,essv5100089,essv5105429,essv5064536,essv5014211,essv5100423,essv5128840,essv5115146,essv5062631,essv5074173,essv5068776,essv5060226,essv5044098,essv5115494,essv5140228,essv5089202,essv5072078,essv5044876,essv5107949,essv5012169,essv5149643,essv5156766,essv5080434,essv5102931,essv5115316,essv5006945,essv5048905,essv5153579,essv5060715,essv5104900,essv5089925,essv5083647,essv5040008,essv5138975,essv5068254,essv5079188,essv5073025,essv5115279,essv5094888,essv5146117,essv5043454,essv5012516,essv5074415,essv5045610,essv5104451,essv5064785,essv5056298,essv5034922,essv5086075,essv5080416,essv5128798,essv5112582,essv5011198,essv5078444,essv5086410,essv5042458,essv5097887,essv5055937,essv5121336,essv5015315,essv5045306,essv5140573,essv5095658,essv5055504,essv5027710,essv5139815,essv5029722,essv5137166,essv5051178,essv5025539,essv5059242,essv5015346,essv5054234,essv5047061,essv5076911,essv5075056,essv5153796,essv5076096,essv5135872,essv5078991,essv5150735,essv5050502,essv5148508,essv5096980,essv5153087,essv5144550 M 1184 0 429 ADAMTSL3 NA07000,NA07029,NA07347,NA07348,NA07357,NA10838,NA10854,NA11840,NA11893,NA12003,NA12056,NA12146,NA12155,NA12275,NA12282,NA12283,NA12335,NA12340,NA12344,NA12347,NA12375,NA12383,NA12718,NA12748,NA12753,NA12762,NA12767,NA12777,NA12778,NA12813,NA12815,NA12829,NA12865,NA12873,NA12874,NA12875,NA12878,NA12892,NA17965,NA17966,NA17975,NA17981,NA17982,NA17983,NA17986,NA17989,NA17990,NA17996,NA17998,NA17999,NA18101,NA18102,NA18112,NA18114,NA18117,NA18118,NA18122,NA18125,NA18128,NA18129,NA18132,NA18133,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18152,NA18153,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18486,NA18489,NA18503,NA18504,NA18505,NA18508,NA18510,NA18518,NA18519,NA18520,NA18526,NA18532,NA18536,NA18543,NA18544,NA18545,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18562,NA18563,NA18564,NA18572,NA18579,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18608,NA18614,NA18618,NA18619,NA18620,NA18623,NA18624,NA18631,NA18633,NA18634,NA18636,NA18637,NA18639,NA18640,NA18641,NA18643,NA18645,NA18647,NA18682,NA18694,NA18696,NA18702,NA18740,NA18745,NA18757,NA18853,NA18854,NA18855,NA18867,NA18868,NA18869,NA18870,NA18872,NA18873,NA18875,NA18923,NA18925,NA18933,NA18934,NA18935,NA18940,NA18942,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18973,NA18975,NA18978,NA18979,NA18981,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19001,NA19002,NA19009,NA19010,NA19027,NA19038,NA19041,NA19046,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19067,NA19068,NA19074,NA19075,NA19077,NA19080,NA19084,NA19085,NA19086,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19102,NA19103,NA19107,NA19109,NA19113,NA19115,NA19118,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19131,NA19141,NA19143,NA19144,NA19146,NA19153,NA19160,NA19171,NA19172,NA19173,NA19174,NA19176,NA19182,NA19192,NA19198,NA19199,NA19209,NA19210,NA19213,NA19215,NA19222,NA19224,NA19225,NA19236,NA19237,NA19308,NA19311,NA19315,NA19317,NA19318,NA19319,NA19332,NA19347,NA19350,NA19360,NA19371,NA19372,NA19373,NA19374,NA19377,NA19379,NA19381,NA19382,NA19383,NA19393,NA19394,NA19399,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19439,NA19444,NA19455,NA19466,NA19467,NA19468,NA19469,NA19470,NA19473,NA19658,NA19659,NA19660,NA19662,NA19703,NA19704,NA19705,NA19708,NA19711,NA19714,NA19727,NA19749,NA19751,NA19755,NA19774,NA19789,NA19790,NA19818,NA19819,NA19834,NA19836,NA19900,NA19908,NA19915,NA19919,NA19982,NA20127,NA20128,NA20287,NA20288,NA20292,NA20294,NA20295,NA20297,NA20334,NA20336,NA20342,NA20347,NA20348,NA20357,NA20359,NA20360,NA20363,NA20364,NA20504,NA20506,NA20509,NA20510,NA20520,NA20521,NA20524,NA20528,NA20540,NA20541,NA20544,NA20586,NA20761,NA20770,NA20774,NA20786,NA20792,NA20796,NA20807,NA20815,NA20856,NA20890,NA20894,NA20908,NA21300,NA21301,NA21302,NA21317,NA21320,NA21339,NA21344,NA21352,NA21355,NA21356,NA21357,NA21362,NA21363,NA21365,NA21366,NA21367,NA21371,NA21379,NA21382,NA21385,NA21388,NA21390,NA21391,NA21403,NA21415,NA21417,NA21421,NA21424,NA21434,NA21436,NA21451,NA21453,NA21473,NA21476,NA21493,NA21494,NA21510,NA21512,NA21517,NA21520,NA21523,NA21524,NA21525,NA21529,NA21575,NA21576,NA21578,NA21580,NA21582,NA21596,NA21599,NA21613,NA21615,NA21616,NA21631,NA21648,NA21650,NA21686,NA21689,NA21693,NA21716,NA21718,NA21719,NA21723,NA21733,NA21740,NA21768,NA21776,NA21784,NA21825 nsv833074 15 82335004 82513395 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452053 S 95 1 0 ADAMTSL3 esv2474245 15 82395557 82398721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241052 S 1 0 1 ADAMTSL3 NA18507 esv21721 15 82396113 82397788 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14994 S 451 0 1 ADAMTSL3 NA18861 nsv833075 15 82475717 82647284 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452054 S 95 1 0 ADAMTSL3,DNM1P41,LOC100505679,LOC648809 dgv2429n71 15 82488383 82510502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904453,nsv904452 M 6533 0 3 ADAMTSL3 SP52700,SP55670,SP55992 nsv457220 15 82497201 82623936 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534455 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTSL3,LOC648809 HGDP00208 dgv766e1 15 82506626 82688763 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12803,essv5602,essv441 M 271 0 0 DNM1P41,LOC100505679,LOC388152,LOC440300,LOC648809 NA18529,NA18952,NA19120 dgv767e1 15 82506626 82904075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23561,essv4569,essv20103,essv9082,essv24657,essv15679,essv7582,essv7207,essv10144,essv16642,essv20762,essv1861,essv5250,essv14325,essv10274,essv19236,esv546,essv12966,essv9114,essv19546,essv10828,essv17739,essv18255,essv23512,essv15827,essv12269 M 271 0 0 DNM1P41,GOLGA6L5,LOC100505679,LOC388152,LOC440300,LOC648809,UBE2Q2P1 NA06993,NA07034,NA07048,NA10838,NA10846,NA11829,NA12146,NA12864,NA12872,NA18506,NA18524,NA18545,NA18547,NA18624,NA18859,NA18860,NA18871,NA18912,NA18976,NA19101,NA19130,NA19132,NA19142,NA19194,NA19223 nsv428310 15 82506626 83040661 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452830,nssv452815,nssv452804,nssv452832,nssv452833,nssv452811,nssv452814,nssv452812,nssv452813 M 62 8 1 DNM1P41,GOLGA6L5,LOC100505679,LOC100506874,LOC388152,LOC440300,LOC648809,NMB,SCAND2,SEC11A,UBE2Q2P1,WDR73,ZSCAN2 HGDP00463,HGDP00472,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA19096,NA19189 esv33338 15 82539653 82540264 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93737 S 51 1 0 LOC648809 21972 nsv904454 15 82587271 82669690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528809,nssv1532810 M 6533 2 0 DNM1P41,LOC100505679,LOC388152,LOC440300 MS10867,SP81363 nsv833076 15 82595460 82766552 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452055 S 95 0 1 DNM1P41,LOC100505679,LOC388152,LOC440300 nsv827418 15 82605951 82642439 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431661,nssv1437778,nssv1425345,nssv1441516,nssv1422447,nssv1429851,nssv1422186,nssv1439298,nssv1426148,nssv1427077,nssv1433236,nssv1429426,nssv1436190,nssv1423776,nssv1434001,nssv1439979,nssv1436130,nssv1424577,nssv1430169,nssv1438460,nssv1434721,nssv1435438,nssv1422965,nssv1427865,nssv1432444,nssv1430936,nssv1440673,nssv1430360,nssv1428665,nssv1437043 M 31 0 30 DNM1P41,LOC100505679 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv29092 15 82606345 82705951 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16593,esv17099,esv19413,esv18312,esv16394 M 451 22 35 DNM1P41,LOC100505679,LOC388152,LOC440300 NA06985,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9290 15 82606549 82894318 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26076,nssv26349,nssv27578,nssv25916,nssv22615,nssv22246,nssv24802,nssv27570,nssv25422,nssv23122 M 31 3 7 Samples from several populations that are part of the HapMap project. DNM1P41,GOLGA6L5,LOC100505679,LOC388152,LOC440300,UBE2Q2P1 NA12740,NA18502,NA18517,NA18552,NA18860,NA18980,NA19132,NA19221,NA19240 dgv768e1 15 82618970 82898038 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2554,essv205,essv3,essv18057 M 271 0 0 DNM1P41,GOLGA6L5,LOC100505679,LOC388152,LOC440300,UBE2Q2P1 NA06993,NA18945,NA18974,NA18994 nsv518289 15 82623936 82914976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695720 S 2026 0 1 DNM1P41,GOLGA6L5,LOC100505679,LOC100506874,LOC388152,LOC440300,UBE2Q2P1 nsv833077 15 82649354 82766552 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452059,nssv1452058,nssv1452056,nssv1452057,nssv1452061,nssv1452060 M 95 1 5 LOC388152,LOC440300 nsv117 15 82690614 82745765 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv117 S 1 0 0 "" NA15510 esv22023 15 82739692 82775415 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21233 S 451 4 0 "" NA12239,NA18858,NA18916,NA19190 esv1071570 15 82744230 82744230 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783406 S 2 1 0 "" HuRef esv29772 15 82835510 82890050 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14847,esv11083,esv13146 M 451 4 30 DNM1P41,GOLGA6L5,UBE2Q2P1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225 essv1973 15 82887992 82898038 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. UBE2Q2P1 NA18942 essv9505 15 82887992 82904075 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. UBE2Q2P1 NA18521 dgv2430n71 15 82888263 82969180 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904456,nsv904455 M 6533 2 0 LOC100506874,UBE2Q2P1,ZSCAN2 IS31861,IS39365 nsv1643 15 82914935 82949260 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2941 S 9 1 0 LOC100506874,UBE2Q2P1,ZSCAN2 NA18555 nsv515983 15 82989843 83001758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684350,nssv693631,nssv666098,nssv687932,nssv680700,nssv683185,nssv665582,nssv672238 M 2026 0 8 NMB,WDR73 dgv770e1 15 83063933 83217534 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5918,esv409 M 271 0 0 ALPK3,ZNF592 NA18550 esv33685 15 83076050 83081743 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97425 S 51 0 1 "" 21879 nsv517833 15 83081868 83129356 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695237 S 2026 1 0 ZNF592 esv29903 15 83092245 83093434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14721 S 451 0 1 ZNF592 NA18511 nsv524050 15 83208568 83279733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699914 S 2026 0 1 ALPK3,SLC28A1 dgv322n27 15 83213459 83263320 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457221,nsv457222 M 1557 2 0 ALPK3,SLC28A1 HGDP00562,HGDP00564 nsv471257 15 83213459 83263320 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545748,nssv545749 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALPK3,SLC28A1 HGDP00562,HGDP00564 nsv904457 15 83239192 83250076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502218 S 6533 0 1 SLC28A1 SP50877 esv1025455 15 83244636 83244636 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992617 S 2 1 0 SLC28A1 HuRef nsv519285 15 83253824 83255658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681405,nssv691186,nssv655211 M 2026 0 3 SLC28A1 nsv904458 15 83255164 83262855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563239 S 6533 0 1 SLC28A1 MS25917 nsv457223 15 83257350 83266877 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534458 S 1557 0 1 SLC28A1 NINDS_136 esv4622 15 83262944 83263311 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27063 S 1 0 1 Single Asian sample YH SLC28A1 YH esv1010774 15 83263064 83263195 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579020 S 3 0 1 SLC28A1 HuRef esv1131956 15 83263070 83263202 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809768 S 2 0 1 SLC28A1 HuRef nsv525868 15 83265502 83301233 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702068 S 2026 0 1 SLC28A1 nsv94824 15 83272767 83272767 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113402 M 24 SLC28A1 nsv827419 15 83323970 83328725 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433237 S 31 1 0 PDE8A NA18972 nsv833078 15 83351618 83509068 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452062 S 95 0 1 PDE8A nsv94588 15 83361512 83362122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113166 M 24 PDE8A nsv1645 15 83373219 83392099 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7209 S 9 0 1 PDE8A NA12156 nsv833079 15 83420410 83618546 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452063 S 95 1 0 LOC440300,PDE8A nsv1646 15 83433416 83466824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4170 S 9 1 0 PDE8A NA12878 esv273890 15 83450298 83456393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581011 S 7 1 0 Samples from several populations that are part of the HapMap project. PDE8A NA19238 dgv771e1 15 83451942 83685716 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16655,essv7542,essv10140,essv23502,essv14365,essv19502,esv102,essv13035,essv15659,essv22871,essv7152,essv9146 M 271 0 0 LOC440300,PDE8A NA07034,NA12760,NA12864,NA18545,NA18547,NA18859,NA18860,NA18912,NA19130,NA19142,NA19194 nsv428311 15 83451942 83830509 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452836,nssv452835 M 62 2 0 AKAP13,LOC440300,PDE8A NA18916,NA19096 nsv94721 15 83463717 83472287 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113299 M 24 PDE8A nsv94868 15 83513885 83513968 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113446 M 24 "" nsv517561 15 83517217 83626571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689854,nssv676502,nssv658249,nssv672894,nssv656004,nssv674972,nssv652362,nssv660930,nssv692146,nssv668630,nssv662293,nssv678749 M 2026 0 12 LOC440300 nsv469530 15 83521147 83613140 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649639 M 265 0 3 Samples from several populations that are part of the HapMap project. LOC440300 nsv471690 15 83521148 83613140 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548874,nssv548876,nssv548872,nssv548875,nssv548873,nssv548870,nssv548868,nssv548869,nssv548871 M 48 1 8 LOC440300 JK1051,JK1061,NA10493,NA11523,NA15726,NA15733,NA16688,NA16689,NA17051 nsv817703 15 83522661 83529838 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416975 S 112 0 1 "" NA19137 nsv904459 15 83522661 83616952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553332 S 6533 1 0 LOC440300 MS19930 nsv518064 15 83522661 83950163 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694197 S 2026 1 0 AKAP13,LOC440300 esv29865 15 83523250 83610775 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9742,esv14569,esv9783,esv19544 M 451 22 0 LOC440300 NA07045,NA11995,NA12004,NA12239,NA12776,NA12828,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9292 15 83526988 83582092 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22276,nssv26365 M 31 2 0 Samples from several populations that are part of the HapMap project. LOC440300 NA18552,NA18860 nsv509580 15 83555225 83639834 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623679,nssv619673,nssv621013 M 4 3 0 LOC440300 NA10860,NA15510,NA18994 nsv904460 15 83581320 83696725 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592701 S 6533 1 0 "" IS39243 nsv9293 15 83581731 83582958 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21636,nssv23768,nssv23740,nssv23150,nssv21572,nssv22782,nssv24735,nssv19900 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA11830,NA12155,NA12740,NA12802,NA18504,NA18537 esv2751538 15 83626571 83913433 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987217,essv6987216,essv6988920,essv6985318,essv6985319 M 771 1 0 AKAP13 SPC_141 dgv323n27 15 83626571 83944508 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457226,nsv457225 M 1557 2 0 AKAP13 1782681216_A,1798860114_A dgv2431n71 15 83636662 83811108 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904462,nsv904461 M 6533 4 0 AKAP13 IS33878,IS39348,IS39400,MS20967 nsv9294 15 83684729 83689741 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22645,nssv25937,nssv25477,nssv21666,nssv19930,nssv23178,nssv26095,nssv19985 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12740,NA12802,NA18502,NA18517,NA18980,NA19132 esv25672 15 83685432 83694240 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19539 S 451 0 40 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv904463 15 83691589 83811108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598560 S 6533 1 0 AKAP13 IS41041 esv21779 15 83750733 83755296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13705 S 451 0 2 AKAP13 NA19114,NA19225 nsv516068 15 83752450 83752722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677505,nssv665991,nssv680344,nssv690067,nssv667520,nssv678726,nssv660780,nssv680427,nssv659193 M 2026 0 9 AKAP13 nsv510670 15 83784587 83897649 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620087,nssv622698 M 4 0 2 AKAP13 NA15510,NA18994 nsv457228 15 83785187 83836777 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534461 S 1557 0 1 AKAP13 1782681195_A nsv457229 15 83811349 83853674 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534462 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKAP13 HGDP00199 nsv526173 15 83849793 83865972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702434 S 2026 0 1 AKAP13 esv22016 15 83857919 83860178 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17566 S 451 0 16 AKAP13 NA06985,NA07037,NA12044,NA12287,NA12414,NA12878,NA18505,NA18508,NA18517,NA18861,NA18909,NA19108,NA19114,NA19129,NA19147,NA19225 esv4400 15 83857975 83860318 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26841 S 1 0 1 Single Asian sample YH AKAP13 YH dgv445n67 15 83858637 83860245 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827422,nsv827421,nsv827423 M 31 0 13 AKAP13 AK10,AK14,AK6,AK8,NA18526,NA18537,NA18564,NA18570,NA18949,NA18968,NA18969,NA18973,NA18997 esv32946 15 83859025 83860176 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93885,essv94319,essv95417,essv92889,essv93630,essv96209,essv95936,essv93567,essv93279,essv94852,essv92646,essv97636,essv100570,essv96371 M 51 0 14 AKAP13 21634,21808,21847,21939,21972,22007,22127,22128,22170,22231,22233,22278,22298,22371 esv3421 15 83903834 83904066 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25862 S 1 0 1 Single Asian sample YH AKAP13 YH nsv94598 15 83904395 83906823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113176 M 24 AKAP13 nsv525771 15 83923783 83924992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701941 S 2026 0 1 AKAP13 nsv524939 15 83923783 83926308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700953 S 2026 0 1 AKAP13 esv2599314 15 83934088 83935474 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299259 S 1 0 1 AKAP13 NA18507 esv270414 15 84025937 84026269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540740,essv2571818,essv2536547,essv2522791,essv2570810,essv2556786,essv2545481,essv2570354,essv2548347,essv2576911,essv2547310,essv2558558,essv2564652,essv2520259,essv2564092,essv2557286,essv2552701,essv2532190,essv2535571,essv2539512,essv2575324,essv2538091,essv2533309,essv2554742,essv2557947 M 157 25 0 Samples from several populations that are part of the HapMap project. AKAP13 NA07000,NA07051,NA07346,NA10851,NA11831,NA11840,NA11920,NA11931,NA11993,NA11994,NA12003,NA12044,NA12045,NA12154,NA12717,NA12750,NA12751,NA12815,NA12828,NA18499,NA18502,NA18505,NA18608,NA18912,NA19102 nsv827424 15 84049593 84050242 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432445 S 31 1 0 AKAP13 AK20 esv259980 15 84049785 84050136 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395804,essv2395671,essv2396105,essv2398802,essv2398987,essv2394608,essv2398431,essv2398224,essv2395304,essv2397757,essv2395833,essv2401013,essv2394865,essv2399816,essv2398115 M 144 0 0 Samples from several populations that are part of the HapMap project. AKAP13 NA12004,NA18501,NA18523,NA18582,NA18605,NA18870,NA18871,NA18909,NA18916,NA18956,NA18961,NA19099,NA19114,NA19129,NA19172 nsv516322 15 84089271 84141529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667566,nssv687400,nssv702498,nssv697636,nssv656778,nssv680701,nssv685203,nssv697845,nssv669553 M 2026 0 9 AKAP13,KLHL25,MIR1276 nsv904464 15 84092552 84130514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549875 S 6533 0 1 AKAP13,KLHL25,MIR1276 MS18276 esv24366 15 84101364 84102139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13299 S 451 0 6 "" NA07045,NA11995,NA12006,NA18909,NA19147,NA19225 nsv820673 15 84101364 84102139 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421137 S 1 0 1 "" NA10851 nsv471258 15 84137668 84154465 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545751,nssv545753,nssv545752,nssv545750 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KLHL25 HGDP00466,HGDP00477,HGDP00625,HGDP00926 dgv772e1 15 84140970 84162590 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16574,esv1159,essv12437 M 271 0 0 "" NA19152,NA19193 esv26921 15 84141558 84150999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20685 S 451 0 1 "" NA19225 nsv442380 15 84142284 84151045 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517029 15 84142286 84150824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678727,nssv686159,nssv683587,nssv684351,nssv653644,nssv665992,nssv659194,nssv673922,nssv681969,nssv666075,nssv660781,nssv680345,nssv684045,nssv677506,nssv680428,nssv674804,nssv682286,nssv670470,nssv689306,nssv684398 M 2026 0 20 "" nsv817704 15 84142286 84150824 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418509 S 112 0 1 "" NA19193 esv2421341 15 84142286 84151043 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5092137,essv5151267,essv5160840,essv5131218,essv5124562,essv5052732,essv5073780,essv5135795,essv5159756,essv5095044,essv5025282,essv5060486,essv5025015 M 1184 0 13 "" NA18114,NA18519,NA19121,NA19123,NA19152,NA19154,NA19184,NA19193,NA19222,NA19224,NA19225,NA21599,NA21616 dgv773e1 15 84142636 84151512 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14013,essv9492 M 271 0 0 "" NA19154,NA19222 nsv904465 15 84149393 84187567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539737,nssv1557929 M 6533 0 2 "" MS14485,MS22993 nsv516178 15 84161149 84162823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693687,nssv660931,nssv690797,nssv679276,nssv672047,nssv659983,nssv666643,nssv687519 M 2026 0 8 "" esv33019 15 84168696 84172686 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100496 S 51 0 1 "" 22298 nsv904466 15 84170434 84206708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583683 S 6533 0 1 "" IS36591 esv33026 15 84234580 84247009 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97519 S 51 0 1 "" 21616 nsv820282 15 84244764 84249453 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419652 S 2 0 1 "" AK1 nsv1647 15 84254895 84267820 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10067 S 9 1 0 "" NA18956 nsv524836 15 84263856 84284682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700837 S 2026 0 1 "" nsv442381 15 84312709 84322841 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv519287 15 84312988 84317220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684251,nssv683919,nssv682826,nssv687848,nssv661778,nssv655212,nssv690180,nssv683707,nssv680290 M 2026 0 9 "" nsv94468 15 84325620 84328982 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113046 M 24 "" esv23770 15 84356023 84358160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20970 S 451 0 1 "" NA18861 esv994053 15 84356745 84364427 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586523 S 3 1 0 "" HuRef esv275181 15 84373700 84376565 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585121 S 1250 0 1 "" nsv1648 15 84422529 84463812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7210 S 9 0 1 "" NA12156 nsv519797 15 84429110 85582776 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697057 S 2026 1 0 AGBL1 nsv827425 15 84429552 84433736 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422967 S 31 0 1 "" NA18552 nsv833080 15 84519269 84687942 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452066,nssv1452065,nssv1452064 M 95 3 0 AGBL1 nsv904467 15 84522874 84579052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596332 S 6533 0 1 AGBL1 IS40492 nsv520512 15 84566382 84570270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671965,nssv681406 M 2026 0 2 AGBL1 nsv457231 15 84682665 84716093 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534464 S 1557 0 1 AGBL1 1787431198_A nsv833082 15 84687961 84859560 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452067 S 95 0 1 AGBL1 dgv774e1 15 84946745 84954786 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20751,esv1305 M 271 0 0 AGBL1 NA07357 esv992414 15 84978037 84978084 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567198 S 3 0 1 AGBL1 HuRef esv1001469 15 85014110 85014191 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565654 S 3 1 0 AGBL1 HuRef nsv833083 15 85099630 85269701 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452068 S 95 1 0 AGBL1 nsv526937 15 85122061 85122132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703305 S 2026 0 1 AGBL1 nsv528422 15 85122061 85128572 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705014 S 2026 0 1 AGBL1 nsv524278 15 85170232 85194981 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700177 S 2026 1 0 AGBL1 nsv507794 15 85171365 85177365 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620592,nssv617904,nssv619154,nssv623197 M 4 4 0 AGBL1 CHM,NA10860,NA15510,NA18994 dgv2432n71 15 85172950 85219649 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904469,nsv904468,nsv904470 M 6533 0 3 AGBL1 IS33747,MS20630,MS22662 nsv516208 15 85189572 85194981 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679585,nssv666820,nssv662042 M 2026 0 3 AGBL1 esv2537097 15 85189636 85191074 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181759 S 1 0 1 AGBL1 NA18507 esv1007298 15 85231950 85239860 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565132 S 3 0 1 AGBL1 HuRef esv1137649 15 85318151 85318151 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268205 S 2 1 0 AGBL1 HuRef nsv827426 15 85378472 85379637 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426149 S 31 1 0 "" AK4 esv2110043 15 85378745 85379145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945877 S 1 0 1 "" NA18507 nsv1649 15 85385581 85411002 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7211 S 9 0 1 "" NA12156 esv259418 15 85472078 85491038 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393744,essv2394296 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv25109 15 85472276 85490763 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12490 S 451 1 0 "" NA19240 nsv1650 15 85473257 85478416 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1273 S 9 1 0 "" NA19240 nsv817705 15 85483631 85488179 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416882,nssv1416881 M 112 2 0 "" NA19238,NA19240 nsv1651 15 85489155 85502391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1274 S 9 1 0 "" NA19240 esv2443384 15 85500411 85502142 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314793 S 1 0 1 "" NA18507 esv1960216 15 85500823 85501234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949073 S 1 0 1 "" NA18507 esv1951097 15 85500912 85501636 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666357 S 1 0 1 "" NA18507 esv1225453 15 85501076 85501490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694308 S 2 0 1 "" HuRef nsv904471 15 85522672 85571725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563380 S 6533 0 1 "" MS25976 nsv526463 15 85534529 85535623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702766 S 2026 0 1 "" esv2548678 15 85545262 85546495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257486 S 1 0 1 "" NA18507 nsv904472 15 85562263 85600928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586193 S 6533 0 1 "" IS37684 dgv111e55 15 85564053 85679607 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751539,esv2751540 M 771 0 2 "" BEC_400,SPC_179 dgv324n27 15 85589476 85664719 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457234,nsv457232,nsv457233 M 1557 0 3 "" NINDS_186,NINDS_258,NINDS_260 nsv517389 15 85600928 85664719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686381,nssv656206,nssv666029,nssv652279,nssv653114,nssv666366,nssv671984,nssv671517,nssv664480,nssv679949,nssv683278,nssv659033,nssv681828,nssv669475,nssv651880,nssv692729,nssv685332,nssv657737,nssv677590,nssv666099,nssv669708,nssv660509,nssv658751,nssv661835 M 2026 0 24 "" nsv904473 15 85600928 85675699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590325 S 6533 0 1 "" IS38491 dgv325n27 15 85631534 85633134 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457235,nsv457236,nsv457237 M 1557 0 3 "" 1780854536_A,1782681495_A,HGDP01164 dgv326n27 15 85631534 85664719 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457238,nsv457242,nsv457240,nsv457243,nsv457239 M 1557 0 5 "" 1780862040_A,1780862516_A,HGDP00886,HGDP01166,NINDS_70 esv2383676 15 85691810 85692230 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557529 S 1 0 1 "" NA18507 nsv9295 15 85700660 85702573 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27586 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv29904 15 85706789 85711756 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19522 S 451 0 2 "" NA18505,NA18861 dgv775e1 15 85706849 85711119 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11316,essv9544,esv1101 M 271 0 0 "" NA18861,NA18863 esv2422064 15 85706849 85711226 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003418,essv5015708,essv5115133,essv5070164,essv5031377,essv5048875,essv5134215,essv5039566,essv5009194,essv5089514,essv5103300,essv5009192,essv5024401 M 1184 0 13 "" NA18505,NA18861,NA18863,NA19122,NA19203,NA19359,NA19434,NA19444,NA20129,NA20317,NA20359,NA20360,NA20363 nsv442382 15 85707205 85711226 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515550 15 85707359 85708716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659529,nssv672895,nssv682397,nssv688906,nssv688928,nssv687882,nssv674718,nssv686179,nssv681504,nssv656970,nssv690396,nssv663885,nssv687865 M 2026 0 13 "" nsv514788 15 85707648 85711136 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628246 S 1414 0 1 "" nsv524330 15 85744289 85761018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700236 S 2026 0 1 "" esv268282 15 85753734 85753987 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497347,essv2504890 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18942 esv8864 15 85794573 85796216 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31305 S 1 0 1 "" SJK nsv904474 15 85831437 85913130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579952 S 6533 0 1 "" IS35195 nsv94797 15 85843967 85844037 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113375 M 24 "" nsv833084 15 85951370 86126474 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452069 S 95 0 1 "" esv275462 15 85970103 85971220 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585551 S 1250 0 1 "" nsv524789 15 85976596 85986259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700781 S 2026 0 1 "" esv275494 15 85978386 85984282 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585641 S 1250 0 1 "" esv275258 15 85990128 85997754 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585567,essv2585199 M 1250 1 1 "" nsv1652 15 86173804 86207395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2942 S 9 1 0 "" NA18555 nsv94255 15 86253856 86260898 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112833 M 24 NTRK3 nsv527970 15 86324401 86326955 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704482 S 2026 1 0 NTRK3 esv2608620 15 86345496 86346945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338668 S 1 0 1 NTRK3 NA18507 esv271976 15 86430691 86431021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512568,essv2511876,essv2493274,essv2496410,essv2493733,essv2506282,essv2505304,essv2510856,essv2498830,essv2497512 M 157 10 0 Samples from several populations that are part of the HapMap project. NTRK3 NA18489,NA18499,NA18504,NA18510,NA18517,NA18523,NA18853,NA19116,NA19138,NA19147 nsv904475 15 86460910 86538332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525189 S 6533 1 0 NTRK3 SP56347 nsv904476 15 86548770 86815353 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525190 S 6533 1 0 LOC283738,MRPL46,MRPS11,NTRK3 SP56347 nsv827427 15 86598590 86602740 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433238 S 31 1 0 LOC283738,NTRK3 NA18972 nsv833085 15 86709311 86865897 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452070,nssv1452071 M 95 1 1 DET1,MRPL46,MRPS11 nsv509581 15 86858448 86941959 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621015 S 4 1 0 DET1 NA15510 nsv827428 15 86997569 86998084 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432446 S 31 0 1 ISG20 AK20 nsv904477 15 86999564 87075386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539548 S 6533 0 1 ISG20 MS14359 nsv525114 15 87198061 87199609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701178 S 2026 0 1 ACAN esv2394182 15 87199666 87201045 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724016 S 1 0 1 ACAN NA18507 esv28667 15 87199700 87201550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14263 S 451 0 2 ACAN NA12878,NA18909 nsv820918 15 87199700 87201550 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421138 S 1 0 1 ACAN NA10851 esv1510077 15 87199999 87200113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597157 S 2 0 1 ACAN HuRef esv1164464 15 87200134 87200191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312961 S 2 0 1 ACAN HuRef nsv904478 15 87211318 87249205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530816 S 6533 0 1 ACAN,HAPLN3,MFGE8 MS10311 nsv1653 15 87214644 87259576 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7212 S 9 0 1 ACAN,HAPLN3,MFGE8 NA12156 esv25206 15 87257423 87345863 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17710,esv13344 M 451 3 0 MFGE8 NA12878,NA19099,NA19190 nsv1654 15 87268961 87313339 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4637 S 9 0 1 "" NA19129 esv2502601 15 87284082 87287790 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279986 S 1 0 1 "" NA18507 esv1935678 15 87284780 87287738 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840597 S 1 0 1 "" NA18507 nsv510407 15 87286072 87292072 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621428 S 4 0 1 "" NA15510 nsv827429 15 87293774 87296964 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432447 S 31 0 1 "" AK20 nsv1656 15 87333671 87360279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4171 S 9 1 0 "" NA12878 esv29686 15 87350197 87350811 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20733 S 451 0 1 "" NA18909 nsv523275 15 87490968 87506732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699009 S 2026 0 1 ABHD2 nsv507795 15 87521584 87527584 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620593,nssv619155,nssv617905 M 4 3 0 ABHD2 CHM,NA10860,NA15510 nsv833086 15 87619983 87781613 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452072 S 95 0 1 FANCI,LOC254559,MIR9-3,POLG nsv1657 15 87631469 87652534 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7213 S 9 0 1 FANCI NA12156 nsv94979 15 87658361 87658361 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113557 M 24 FANCI esv1642918 15 87669311 87669509 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307602 S 2 0 1 POLG HuRef esv270532 15 87672201 87672518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493324,essv2500956 M 157 2 0 Samples from several populations that are part of the HapMap project. POLG NA18504,NA18856 esv23656 15 87676882 87679189 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13536 S 451 0 1 POLG NA18511 esv996529 15 87684302 87688161 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564777 S 3 1 0 "" HuRef esv1198745 15 87686847 87686847 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934392 S 2 1 0 "" HuRef nsv94991 15 87690115 87696586 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113569 M 24 "" dgv2433n71 15 87701891 87767696 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904480,nsv904479 M 6533 0 2 LOC254559,MIR9-3 IS33504,SP54956 nsv516532 15 87733799 87749940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659355,nssv688004,nssv669595,nssv668920 M 2026 0 4 LOC254559 nsv521543 15 87749940 87750214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698159 S 2026 0 1 "" esv34025 15 87756366 87974861 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C15orf42,KIF7,LOC283761,RHCG nsv457245 15 87808594 87861562 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534477 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283761,RHCG HGDP00888 esv28452 15 87842957 87843562 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18779 S 451 2 0 "" NA07037,NA11995 esv26745 15 87871925 87916701 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14288 S 451 0 1 "" NA12414 nsv1658 15 87872382 87906424 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7214 S 9 1 0 "" NA12156 nsv1659 15 87954771 87999867 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7215 S 9 0 1 C15orf42,KIF7 NA12156 nsv904481 15 87967830 88013148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510103 S 6533 0 1 C15orf42,KIF7,PLIN1 SP54956 nsv521260 15 87971241 87975432 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689895,nssv689420 M 2026 0 2 C15orf42,KIF7 nsv904482 15 87984945 88012462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510904,nssv1507386 M 6533 0 2 KIF7,PLIN1 SP54725,SP54988 nsv1660 15 88005210 88039094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2943 S 9 1 0 PEX11A,PLIN1,WDR93 NA18555 esv29059 15 88007823 88008308 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20902 S 451 2 0 "" NA18909,NA19108 nsv904483 15 88018100 88093615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561327,nssv1563245 M 6533 0 2 PEX11A,PLIN1,WDR93 MS24935,MS25939 esv268839 15 88036296 88036381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514460 S 157 1 0 Samples from several populations that are part of the HapMap project. WDR93 NA12874 esv9488 15 88043554 88043652 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31929 S 1 1 0 WDR93 SJK dgv2434n71 15 88075146 88162709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904485,nsv904484 M 6533 0 4 ANPEP,MESP1,MESP2,WDR93 IS32322,MS16153,MS17208,MS18276 esv2174903 15 88089926 88090367 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711873 S 1 0 1 "" NA18507 esv2559138 15 88113563 88114581 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351124 S 1 1 0 "" NA18507 nsv819621 15 88129130 88129435 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418582 S 2 1 0 ANPEP AK1 nsv519689 15 88147865 88150562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684732,nssv677654,nssv657582 M 2026 0 3 ANPEP nsv1661 15 88149017 88183948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1275 S 9 1 0 ANPEP,AP3S2,C15orf38-AP3S2 NA19240 esv1678655 15 88198216 88198717 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978439 S 2 0 1 AP3S2,C15orf38-AP3S2 HuRef esv25692 15 88306599 88312272 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10039 S 451 0 2 "" NA18523,NA18909 nsv442383 15 88306853 88311123 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv996812 15 88313720 88323474 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564388 S 3 0 1 "" HuRef esv22491 15 88336405 88339015 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10497 S 451 0 1 "" NA18517 esv997696 15 88344647 88351102 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564635 S 3 0 1 ZNF710 HuRef dgv776e1 15 88366960 88610637 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14606,essv10909,esv866,essv15268,essv11101 M 271 0 0 C15orf58,CIB1,IDH2,NGRN,SEMA4B,TTLL13,ZNF710 NA19093,NA19094,NA19209,NA19211 nsv827430 15 88376965 88378176 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422189 S 31 0 1 ZNF710 NA18997 nsv94745 15 88378711 88382943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113323 M 24 ZNF710 nsv904486 15 88418543 88513559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586168 S 6533 1 0 IDH2,ZNF710 IS37664 dgv112e55 15 88423508 88593510 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34436,esv34510,esv34677,esv34892 M 771 4 0 C15orf58,CIB1,IDH2,SEMA4B,ZNF710 NA19093,NA19094,NA19209,NA19211 dgv777e1 15 88424056 88601412 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12931,essv8410,essv7927,essv10609 M 271 0 0 C15orf58,CIB1,IDH2,SEMA4B,TTLL13,ZNF710 NA19093,NA19094,NA19209,NA19211 nsv442384 15 88433614 88579397 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C15orf58,CIB1,IDH2,SEMA4B nsv817707 15 88448860 88585934 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418319,nssv1418320 M 112 2 0 C15orf58,CIB1,SEMA4B NA19093,NA19094 nsv904487 15 88461363 88561271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531803 S 6533 0 1 SEMA4B MS10665 nsv904488 15 88461363 88565223 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584375 S 6533 1 0 SEMA4B IS36973 esv33160 15 88464299 88468841 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93205 S 51 1 0 "" 22170 nsv94995 15 88489235 88496330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113573 M 24 "" nsv904489 15 88520433 88550783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510104 S 6533 0 1 SEMA4B SP54956 dgv2435n71 15 88525139 88626437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904492,nsv904490 M 6533 0 2 C15orf58,CIB1,NGRN,SEMA4B,TTLL13 IS37646,IS39233 nsv904491 15 88541314 88599276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530817 S 6533 0 1 C15orf58,CIB1,SEMA4B,TTLL13 MS10311 nsv833087 15 88552911 88769961 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452073 S 95 0 1 C15orf58,CIB1,GABARAPL3,IQGAP1,NGRN,SEMA4B,TTLL13,ZNF774 essv11326 15 88589888 88610637 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NGRN,TTLL13 NA19128 esv2751541 15 88589888 88801449 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987218,essv6985320,essv6985321,essv6985322 M 771 1 0 GABARAPL3,IQGAP1,NGRN,TTLL13,ZNF774 SPC_141 nsv9296 15 88591119 88593523 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25988 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv94314 15 88596293 88598424 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112892 M 24 TTLL13 nsv94838 15 88600830 88600893 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113416 M 24 TTLL13 nsv904493 15 88621729 88737708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585148 S 6533 1 0 GABARAPL3,IQGAP1,ZNF774 IS37294 nsv457246 15 88626437 88800132 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534478 S 1557 1 0 GABARAPL3,IQGAP1,ZNF774 1798860114_A nsv833088 15 88814205 88990039 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452074 S 95 0 1 CRTC3,IQGAP1 esv33405 15 88870216 88870427 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98672 S 51 0 1 "" 21606 esv33377 15 88872958 88873027 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95374,essv96023 M 51 2 0 "" 21872,22127 esv33061 15 88876164 88876302 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98819 S 51 0 1 CRTC3 21606 nsv509582 15 88923058 89007405 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621016 S 4 1 0 CRTC3 NA15510 esv2512119 15 88974479 88976383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185742 S 1 0 1 CRTC3 NA18507 esv2234796 15 88974793 88975513 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497037 S 1 0 1 CRTC3 NA18507 esv3955 15 88974928 88975358 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26396 S 1 0 1 Single Asian sample YH CRTC3 YH esv1007679 15 88974978 88975310 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585157 S 3 0 1 CRTC3 HuRef esv1236283 15 88974994 88975327 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882174 S 2 0 1 CRTC3 HuRef nsv94691 15 88974995 88975330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113269 M 24 CRTC3 esv8010 15 88974997 88975322 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30451 S 1 0 1 CRTC3 SJK nsv1662 15 88982742 89012664 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1277 S 9 1 0 CRTC3 NA19240 esv7216 15 88991440 88991892 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29657 S 1 0 1 "" SJK esv2603138 15 88999460 88999923 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290720 S 1 1 0 "" NA18507 esv1060370 15 88999827 88999827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885035 S 2 1 0 "" HuRef esv29358 15 89020479 89023508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10030 S 451 0 1 "" NA18502 nsv94962 15 89065795 89066580 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113540 M 24 BLM esv4561 15 89163433 89163740 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27002 S 1 0 1 Single Asian sample YH "" YH nsv94584 15 89163536 89163676 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113162 M 24 "" esv2400179 15 89202910 89203629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952542 S 1 0 1 "" NA18507 esv6238 15 89203112 89203417 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28679 S 1 0 1 "" SJK esv1141130 15 89203116 89203436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358021 S 2 0 1 "" HuRef nsv833089 15 89204144 89307195 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452075 S 95 0 1 FES,FURIN,HDDC3,MAN2A2,RCCD1,UNC45A nsv515661 15 89211013 89326201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665011,nssv679616,nssv664281 M 2026 0 3 FES,FURIN,HDDC3,MAN2A2,PRC1,RCCD1,UNC45A dgv2436n71 15 89212660 89229201 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904494,nsv904495 M 6533 0 2 FES,FURIN SP54956,SP54988 esv22296 15 89215238 89216672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11186 S 451 0 2 FURIN NA07045,NA18511 nsv833090 15 89255429 89442753 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452076,nssv1452078,nssv1452077 M 95 0 3 HDDC3,MAN2A2,PRC1,RCCD1,UNC45A,VPS33B esv1007089 15 89318602 89318602 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566574 S 3 1 0 PRC1 HuRef esv1247904 15 89318603 89318661 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968663 S 2 0 1 PRC1 HuRef esv1307442 15 89318694 89318694 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257033 S 2 1 0 PRC1 HuRef nsv833091 15 89340549 89400706 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452084,nssv1452090,nssv1452091,nssv1452079,nssv1452080,nssv1452081,nssv1452089,nssv1452082,nssv1452085,nssv1452088,nssv1452086,nssv1452087,nssv1452092,nssv1452083 M 95 0 14 VPS33B esv27553 15 89391739 89393201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14071 S 451 0 1 "" NA11894 esv2186789 15 89392240 89392627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892595 S 1 0 1 "" NA18507 nsv513436 15 89392849 89393143 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625837 S 1 1 0 "" 1 nsv507796 15 89426958 89432958 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623198 S 4 1 0 "" NA18994 esv26699 15 89502483 89503571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15444 S 451 0 2 SV2B NA18517,NA19147 esv8530 15 89503575 89503658 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30971 S 1 1 0 SV2B SJK nsv904496 15 89506341 89526986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515116 S 6533 0 1 SV2B SP56125 nsv904497 15 89609732 89721210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588635 S 6533 1 0 SV2B IS38225 nsv1663 15 89610636 89655131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4172 S 9 0 1 SV2B NA12878 esv2011261 15 89614827 89615280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654471 S 1 0 1 SV2B NA18507 dgv778e1 15 89632854 89841316 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5356,esv84 M 271 0 0 SV2B NA18563 nsv833094 15 89632877 89841316 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452093 S 95 1 0 SV2B esv26104 15 89640675 89641380 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17362 S 451 0 1 SV2B NA12878 nsv827432 15 89651376 89652310 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430171 S 31 0 1 "" AK14 nsv524491 15 89653843 89656585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700429 S 2026 0 1 "" nsv529031 15 89653843 89658955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705742 S 2026 0 1 "" nsv9297 15 89719629 89722900 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22616,nssv26008 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19007,NA19132 esv270185 15 89753493 89753660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496834,essv2503012,essv2505818,essv2507407 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18507,NA18861,NA18912 dgv54e180 15 89779632 89790268 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997131,esv992089 M 3 0 1 "" HuRef nsv511548 15 89780783 89785497 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626172 S 1 0 1 "" 1 nsv9298 15 89781413 89789731 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23141,nssv22811 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA19173 nsv512408 15 89782052 89784468 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624998 S 1 0 1 "" 1 esv999351 15 89782571 89783192 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586906 S 3 0 1 "" HuRef nsv827433 15 89782571 89783192 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429874,nssv1432448,nssv1431662,nssv1426151,nssv1439981,nssv1429427,nssv1422190,nssv1427079,nssv1436141,nssv1437044,nssv1430174,nssv1422459,nssv1427868,nssv1430937,nssv1428667,nssv1430372,nssv1437780,nssv1433239 M 31 15 3 "" AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18592,NA18947,NA18949,NA18968,NA18972,NA18997 esv27349 15 89782788 89784409 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11138 S 451 2 5 "" NA11894,NA11993,NA11995,NA12006,NA12414,NA12828,NA19147 nsv820387 15 89782788 89784409 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421139 S 1 0 1 "" NA10851 esv994561 15 89782843 89784497 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586630 S 3 0 1 "" HuRef esv32951 15 89782898 89793176 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93721 S 51 0 1 "" 21972 nsv833095 15 89807797 89952180 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452094 S 95 0 1 "" nsv1664 15 89992630 90037412 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5574 S 9 0 1 "" NA19129 esv2480351 15 90028888 90030238 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236090 S 1 0 1 "" NA18507 nsv1665 15 90088495 90120094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4173 S 9 1 0 "" NA12878 esv24654 15 90093731 90095450 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20131 S 451 1 0 "" NA12878 esv4705 15 90094849 90095273 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27146 S 1 0 1 Single Asian sample YH "" YH esv272826 15 90108802 90109106 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578932 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270831 15 90108802 90109168 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512616,essv2510538,essv2494170,essv2509812,essv2496543,essv2496205,essv2493738,essv2505158,essv2505731,essv2494112,essv2495618,essv2506716,essv2496913,essv2499628,essv2512121,essv2501744,essv2498263,essv2502153 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18502,NA18508,NA18510,NA18511,NA18517,NA18853,NA18861,NA18871,NA18916,NA19108,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv2360544 15 90168653 90169122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552309 S 1 0 1 "" NA18507 esv275567 15 90232929 90233716 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586013 S 1250 0 1 SLCO3A1 nsv1667 15 90299789 90333837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4174 S 9 1 0 SLCO3A1 NA12878 nsv904498 15 90346288 90359238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595557 S 6533 0 1 SLCO3A1 IS40254 esv269383 15 90374028 90374352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571639,essv2525882,essv2556468,essv2523432,essv2577323,essv2576806,essv2553960,essv2547431,essv2564370,essv2555143,essv2540169,essv2551691,essv2569283,essv2569779,essv2527336,essv2544629,essv2541127,essv2540571,essv2524629,essv2539745,essv2549416,essv2522024,essv2541617,essv2553241,essv2572527,essv2558969,essv2562430,essv2533939,essv2533510,essv2529984,essv2557614,essv2534230,essv2573594,essv2543337,essv2576998,essv2571958,essv2526741,essv2529812,essv2524095,essv2574744,essv2568721,essv2560263,essv2571302,essv2546031,essv2574253,essv2549009,essv2533151 M 157 47 0 Samples from several populations that are part of the HapMap project. SLCO3A1 NA07037,NA07051,NA11840,NA11918,NA11994,NA12004,NA12043,NA12154,NA12287,NA12717,NA12751,NA12872,NA18489,NA18504,NA18508,NA18520,NA18522,NA18526,NA18545,NA18552,NA18555,NA18563,NA18564,NA18571,NA18592,NA18605,NA18609,NA18638,NA18909,NA18916,NA18944,NA18949,NA18953,NA18959,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240 esv273532 15 90374030 90374354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583913,essv2584486,essv2583425 M 7 3 0 Samples from several populations that are part of the HapMap project. SLCO3A1 NA19238,NA19239,NA19240 esv1359284 15 90374058 90374058 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958042 S 2 1 0 SLCO3A1 HuRef esv25947 15 90378252 90380212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19588 S 451 0 2 SLCO3A1 NA11931,NA11995 dgv779e1 15 90382555 90416250 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11347,essv14911,esv981 M 271 0 0 SLCO3A1 NA19128,NA19129 nsv1668 15 90386348 90436995 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5575 S 9 0 1 SLCO3A1 NA19129 esv27351 15 90389547 90407767 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9948 S 451 0 1 SLCO3A1 NA19129 esv1040768 15 90391274 90391274 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782055 S 2 1 0 SLCO3A1 HuRef esv1362653 15 90391805 90391805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964982 S 2 1 0 SLCO3A1 HuRef esv1315861 15 90391872 90391872 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121138 S 2 1 0 SLCO3A1 HuRef nsv118 15 90423352 90426194 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv118 S 1 1 0 SLCO3A1 NA15510 nsv1669 15 90423352 90426194 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10938 S 9 1 0 SLCO3A1 NA15510 nsv119 15 90445911 90449733 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv119 S 1 1 0 SLCO3A1 NA15510 nsv1670 15 90445911 90449733 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10939 S 9 1 0 SLCO3A1 NA15510 nsv120 15 90452957 90456908 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv120 S 1 1 0 SLCO3A1 NA15510 nsv819109 15 90475115 90478455 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419528 S 2 1 0 SLCO3A1 AK1 dgv55e180 15 90475363 90478645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996042,esv999692 M 3 0 1 SLCO3A1 HuRef esv23264 15 90475894 90478000 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17630,esv20023 M 451 30 2 SLCO3A1 NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12878,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821516 15 90475894 90478340 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421140 S 1 0 1 SLCO3A1 NA10851 dgv446n67 15 90476014 90477778 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827434,nsv827435 M 31 3 0 SLCO3A1 AK4,NA18582,NA18972 esv1261605 15 90487617 90487617 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3868597 S 2 1 0 SLCO3A1 HuRef nsv524871 15 90491552 90505184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700876 S 2026 0 1 SLCO3A1 nsv121 15 90526337 90527576 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv121 S 1 1 0 "" NA15510 nsv122 15 90531694 90532600 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv122 S 1 1 0 "" NA15510 nsv1671 15 90531694 90532600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10940 S 9 1 0 "" NA15510 nsv123 15 90540757 90545134 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv123 S 1 1 0 "" NA15510 nsv125 15 90545761 90549975 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv125 S 1 1 0 "" NA15510 nsv126 15 90565670 90568645 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv126 S 1 1 0 "" NA15510 nsv127 15 90570601 90576001 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv127 S 1 1 0 "" NA15510 nsv1672 15 90570601 90576001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10941 S 9 1 0 "" NA15510 nsv128 15 90579704 90582644 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv128 S 1 1 0 "" NA15510 nsv129 15 90585507 90587123 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv129 S 1 1 0 "" NA15510 nsv130 15 90589232 90592546 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv130 S 1 1 0 "" NA15510 nsv131 15 90603911 90607766 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv131 S 1 1 0 "" NA15510 nsv1673 15 90603911 90607766 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10942 S 9 1 0 "" NA15510 nsv132 15 90612102 90614314 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv132 S 1 1 0 "" NA15510 esv1987442 15 90640120 90640518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969340 S 1 0 1 "" NA18507 nsv904499 15 90715799 91273586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527088 S 6533 1 0 ASB9P1,C15orf32,CHD2,FAM174B,LOC100144604,LOC100507217,MIR3175,ST8SIA2 SP58141 nsv519402 15 90814564 90816431 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696834 S 2026 1 0 C15orf32 esv2751542 15 90854685 90892819 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986386,essv6983262 M 771 1 0 "" BEC_560 esv1008640 15 90892546 90898713 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564155 S 3 0 1 "" HuRef esv2091385 15 90915620 90915941 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882270 S 1 0 1 LOC100144604 NA18507 nsv457249 15 90917523 90934429 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534479 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00902 esv26644 15 90952206 90953461 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10575,esv16626 M 451 2 0 "" NA18511,NA18523 nsv1674 15 90982015 91015936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7216 S 9 1 0 FAM174B NA12156 nsv94664 15 91013454 91013508 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113242 M 24 "" esv1604991 15 91013558 91013613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109836 S 2 0 1 "" HuRef nsv827436 15 91070673 91071586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426154 S 31 0 1 "" AK4 nsv94522 15 91107423 91117320 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113100 M 24 "" esv2297672 15 91115976 91116421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944436 S 1 0 1 "" NA18507 nsv94812 15 91122250 91122250 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113390 M 24 "" nsv1675 15 91169565 91204856 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4175 S 9 1 0 "" NA12878 esv2460744 15 91198574 91200022 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227232 S 1 0 1 "" NA18507 esv2567952 15 91316398 91317897 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362966 S 1 0 1 CHD2 NA18507 esv2229244 15 91316605 91317304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606199 S 1 0 1 CHD2 NA18507 esv4137 15 91316744 91317154 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26578 S 1 0 1 Single Asian sample YH CHD2 YH esv1010129 15 91316794 91317106 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582408 S 3 0 1 CHD2 HuRef esv9274 15 91316795 91317109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31715 S 1 0 1 CHD2 SJK esv1475283 15 91316802 91317115 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334300 S 2 0 1 CHD2 HuRef nsv904500 15 91357446 91385619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527089 S 6533 1 0 CHD2 SP58141 esv268591 15 91368141 91368431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523237,essv2548319,essv2576810,essv2553975,essv2544495,essv2564579,essv2530748,essv2561547,essv2549019,essv2563282 M 157 10 0 Samples from several populations that are part of the HapMap project. CHD2 NA07037,NA10847,NA12004,NA12045,NA12154,NA12287,NA12414,NA12751,NA12873,NA18523 nsv520601 15 91371727 91375823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682287,nssv672983 M 2026 0 2 CHD2 dgv157n21 15 91371727 91403060 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525266,nsv526532 M 2026 0 2 CHD2,RGMA dgv2437n71 15 91371727 91406094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904503,nsv904501,nsv904502 M 6533 0 4 CHD2,RGMA IS39417,MS10311,MS16153,MS17208 nsv523617 15 91371727 91411143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699414 S 2026 0 1 CHD2,RGMA nsv833096 15 91385746 91567261 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452095 S 95 0 1 RGMA nsv523171 15 91460705 91461811 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698883 S 2026 0 1 "" nsv527040 15 91461811 91463287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703416 S 2026 0 1 "" esv25642 15 91463131 91463824 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12883 S 451 0 1 "" NA18523 nsv520003 15 91463200 91463287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660030,nssv663520 M 2026 0 2 "" nsv904504 15 91482474 91500194 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527642 S 6533 1 0 "" SP80914 nsv904505 15 91485889 91523448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518392 S 6533 0 1 "" SP57545 nsv904506 15 91500194 91524929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544841 S 6533 1 0 "" MS16537 nsv471259 15 91534413 91565744 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545756,nssv545755 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00956,HGDP01220 dgv327n27 15 91535986 91565744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457253,nsv457251,nsv457255 M 1557 0 3 "" HGDP00955,HGDP00956,HGDP01220 nsv457254 15 91535986 91597282 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534483 S 1557 0 1 "" NINDS_219 esv1431014 15 91548494 91548558 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786873 S 2 0 1 "" HuRef esv1589489 15 91587302 91587363 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197618 S 2 0 1 "" HuRef nsv94504 15 91588772 91588825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113082 M 24 "" dgv780e1 15 91597772 91620597 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19025,esv908 M 271 0 0 "" NA07034 esv2272734 15 91604678 91605082 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540038 S 1 0 1 "" NA18507 nsv442385 15 91605927 91621304 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2336495 15 91610614 91611021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994767 S 1 0 1 "" NA18507 essv11473 15 91612535 91620597 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18856 nsv817708 15 91614570 91620739 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416401,nssv1416402 M 112 2 0 "" NA18856,NA18857 nsv9299 15 91624747 91629401 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27594 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv24455 15 91627075 91629432 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14165,esv21014 M 451 2 0 "" NA18861,NA18916 esv2554373 15 91638968 91640473 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376017 S 1 0 1 "" NA18507 esv34088 15 91654150 92111115 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv442387 15 91656315 91667141 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515575 15 91660035 91666150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657772,nssv663943,nssv686834,nssv671707 M 2026 0 4 "" nsv817709 15 91660035 91666150 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416603,nssv1416680 M 112 0 2 "" NA19119,NA19172 nsv904507 15 91670734 91709406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587625 S 6533 0 1 "" IS38075 esv23948 15 91677546 91678251 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15662 S 451 0 1 "" NA18505 esv1619834 15 91677770 91677770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869973 S 2 1 0 "" HuRef dgv2438n71 15 91686112 91800605 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904509,nsv904508 M 6533 0 6 "" IS30506,IS30590,IS34680,IS36438,IS38308,IS40050 dgv2439n71 15 91728309 91800605 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904511,nsv904510 M 6533 0 2 "" MS17398,SP50134 nsv527966 15 91741190 91743460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704477 S 2026 0 1 "" nsv457256 15 91751706 91768082 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534485 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01223 dgv2440n71 15 91770899 92313071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904513,nsv904512 M 6533 0 2 "" IS35181,IS40473 nsv520593 15 91773349 91779418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697509 S 2026 0 1 "" dgv158n21 15 91805595 91810520 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518394,nsv523392 M 2026 0 2 "" nsv827437 15 91875261 91875818 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434723 S 31 1 0 "" NA18570 nsv520243 15 91906923 91915239 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697304 S 2026 1 0 "" esv26214 15 91907260 91907745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11913 S 451 0 1 "" NA12239 nsv904514 15 91936583 91967763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586688,nssv1564460,nssv1582843 M 6533 0 3 "" IS30218,IS36179,IS37946 dgv328n27 15 91937734 91963332 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457259,nsv457258 M 1557 0 2 "" 1780854128_A,1780862577_A nsv515866 15 91937734 92035325 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665080,nssv690587,nssv681057,nssv680238,nssv662962,nssv684458 M 2026 0 6 "" esv2751543 15 91954500 92087141 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989525,essv6981837,essv6981836,essv6989265 M 771 0 1 "" BEC_492 esv2482120 15 91966044 91967515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261438 S 1 0 1 "" NA18507 esv27327 15 92026459 92037338 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18681 S 451 0 1 "" NA18505 esv2621025 15 92069768 92071238 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307698 S 1 0 1 "" NA18507 nsv904515 15 92072278 92297303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596942 S 6533 1 0 "" IS40677 nsv1676 15 92089313 92123835 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2944 S 9 1 0 "" NA18555 nsv457261 15 92157227 92285468 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534488 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00731 esv2479663 15 92186848 92188564 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219395 S 1 0 1 "" NA18507 nsv904516 15 92200790 92307865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554168 S 6533 0 1 "" MS20630 esv274976 15 92222662 92226305 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585435 S 1250 0 1 "" nsv904517 15 92400579 92656554 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505695 S 6533 1 0 MCTP2 SP53859 nsv904518 15 92400579 93291484 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508558 S 6533 1 0 MCTP2 SP54581 nsv457262 15 92417237 92442685 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534489 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00474 nsv457264 15 92500239 92528658 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534491 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00003 nsv833097 15 92507232 92695300 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452096 S 95 1 0 MCTP2 nsv1678 15 92514862 92548779 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4176 S 9 1 0 "" NA12878 esv273619 15 92516706 92517039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584289,essv2583643 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271664 15 92516712 92517047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514701,essv2517478,essv2514114,essv2515111,essv2516484,essv2514223,essv2515278,essv2518305 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA12043,NA12812,NA12814,NA12874,NA19238,NA19240 nsv904519 15 92522536 92639585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550153 S 6533 0 1 "" MS18326 nsv904520 15 92557833 92616974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593844 S 6533 0 1 "" IS39528 nsv523623 15 92577934 92629470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699420 S 2026 0 1 "" nsv516378 15 92596662 92601453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685042,nssv667915,nssv688793,nssv684399 M 2026 0 4 "" nsv94903 15 92601838 92602267 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113481 M 24 "" esv271022 15 92620871 92621205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571681,essv2548255,essv2565427,essv2571523,essv2545890,essv2574535 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12045,NA12812,NA19238,NA19239,NA19240 esv272819 15 92620876 92621202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584305,essv2584633,essv2583856 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv519193 15 92646402 92647763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696676 S 2026 0 1 MCTP2 nsv904521 15 92662321 92914227 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505696 S 6533 1 0 MCTP2 SP53859 nsv820715 15 92686078 92690490 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421141 S 1 1 0 MCTP2 NA10851 dgv447n67 15 92686658 92689775 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827441,nsv827443,nsv827439,nsv827438 M 31 0 6 MCTP2 AK12,AK2,AK4,NA18526,NA18537,NA18564 nsv827440 15 92687107 92689563 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422191,nssv1428669,nssv1431663,nssv1435439,nssv1422471,nssv1423777,nssv1436152,nssv1430175,nssv1426973,nssv1424579,nssv1433242,nssv1430384 M 31 1 11 MCTP2 AK10,AK14,AK18,NA18547,NA18582,NA18592,NA18942,NA18947,NA18969,NA18972,NA18997,NA18999 esv22514 15 92687327 92693333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13196,esv16500 M 451 0 23 MCTP2 NA06985,NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12414,NA12489,NA12828,NA15510,NA18517,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv513437 15 92692425 92692849 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625838 S 1 1 0 MCTP2 1 esv2474634 15 92692470 92692949 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364195 S 1 1 0 MCTP2 NA18507 nsv520668 15 92703955 92709908 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691571,nssv673746 M 2026 0 2 MCTP2 nsv904522 15 92732422 92816849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588058 S 6533 0 1 MCTP2 IS38149 esv1007834 15 92734282 92734349 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566512 S 3 0 1 MCTP2 HuRef esv1647697 15 92734297 92734365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001521 S 2 0 1 MCTP2 HuRef esv268352 15 92836251 92836568 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494766,essv2507204,essv2497657 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18870,NA19147 nsv520465 15 92853373 92878141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671669,nssv686809 M 2026 0 2 "" nsv521263 15 92915215 92917093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697875 S 2026 0 1 "" nsv515710 15 92916997 92917093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679538,nssv693462,nssv680449,nssv660089,nssv688122,nssv664501,nssv661577,nssv677865 M 2026 0 8 "" nsv523616 15 92916997 92919269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699412 S 2026 0 1 "" esv27139 15 92917064 92917968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14507 S 451 0 1 "" NA19129 nsv904523 15 92955393 93198358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505697 S 6533 1 0 "" SP53859 esv271287 15 92965995 92966332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557801,essv2526009,essv2568248,essv2521556,essv2547229,essv2558649,essv2564737,essv2577659,essv2576466,essv2564292,essv2537564,essv2546807,essv2557408,essv2551915,essv2532242,essv2569593,essv2523876,essv2538272,essv2570320,essv2541953,essv2578160,essv2555351,essv2566512,essv2573694,essv2577073,essv2575217,essv2560402,essv2549746,essv2571459,essv2537749,essv2548918,essv2533297,essv2563194 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA10847,NA10851,NA11918,NA11995,NA12144,NA12717,NA12750,NA12751,NA12761,NA12814,NA12828,NA12878,NA12892,NA18499,NA18504,NA18505,NA18508,NA18537,NA18547,NA18593,NA18856,NA18940,NA18943,NA18948,NA18964,NA18970,NA19102,NA19190,NA19225,NA19238 esv273992 15 92966001 92966338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581664,essv2582770,essv2584358 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv6625 15 93132808 93132881 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29066 S 1 1 0 "" SJK nsv904524 15 93146598 93262057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577913 S 6533 0 1 "" IS34599 nsv904525 15 93146598 93300157 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591424 S 6533 1 0 "" IS38810 dgv2441n71 15 93179247 93206689 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904526,nsv904527 M 6533 0 3 "" SP54043,SP54956,SP54988 nsv904528 15 93225635 93297736 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505698 S 6533 1 0 "" SP53859 dgv781e1 15 93267980 93447142 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv116,essv4491 M 271 0 0 "" NA18552 nsv833098 15 93269408 93434353 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452097 S 95 1 0 "" nsv904529 15 93274149 93345861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592029 S 6533 0 1 "" IS39181 nsv518306 15 93312841 93314700 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695738 S 2026 0 1 "" esv33035 15 93380771 93386006 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101754 S 51 0 1 "" 21909 esv2571440 15 93492014 93493832 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316242 S 1 0 0 "" NA18507 esv2527956 15 93492394 93493910 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385411 S 1 0 1 "" NA18507 nsv827444 15 93492851 93493480 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428670,nssv1432449,nssv1423778,nssv1429429,nssv1430176,nssv1438461,nssv1436163,nssv1433243,nssv1434724,nssv1422968,nssv1430397,nssv1440677,nssv1422192 M 31 0 13 "" AK10,AK12,AK14,AK20,NA18552,NA18564,NA18570,NA18592,NA18947,NA18951,NA18972,NA18997,NA18999 esv3898 15 93493599 93493689 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26339 S 1 0 0 Single Asian sample YH "" YH nsv457265 15 93511754 93572828 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534492 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01307 nsv510671 15 93538447 93577373 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622699 S 4 0 1 "" NA18994 nsv833099 15 93556151 93725630 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452098 S 95 0 1 LOC400456 esv2519602 15 93562705 93564267 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364274 S 1 0 1 "" NA18507 nsv528082 15 93586200 93590806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704618 S 2026 0 1 "" nsv521930 15 93635082 93643881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694699 S 2026 0 1 LOC400456 nsv833100 15 93697383 93853318 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452099 S 95 1 0 LOC145820 nsv1679 15 93724029 93756124 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6647 S 9 1 0 "" NA12156 esv2626912 15 93751813 93753413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167333 S 1 0 1 "" NA18507 esv27313 15 93844438 93847015 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14833 S 451 0 4 LOC145820 NA12828,NA18511,NA18517,NA19257 nsv827445 15 93844909 93846963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427869 S 31 0 1 LOC145820 AK8 esv33663 15 93845138 93846566 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98261,essv95046 M 51 0 2 LOC145820 21772,22231 nsv904530 15 93858985 93920884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579767 S 6533 0 1 "" IS35179 nsv833101 15 93862988 94037985 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452100 S 95 1 0 "" esv271319 15 93928752 93929047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575924,essv2571772,essv2546235,essv2521270,essv2526158,essv2536604,essv2523005,essv2570797,essv2556559,essv2568345,essv2570441,essv2521730,essv2576749,essv2550692,essv2552055,essv2558587,essv2564694,essv2520161,essv2554957,essv2546979,essv2540008,essv2557534,essv2552527,essv2551717,essv2562740,essv2578691,essv2558725,essv2536841,essv2527362,essv2561572,essv2523623,essv2552920,essv2538290,essv2542811,essv2565013,essv2534626,essv2539891,essv2519714,essv2559903,essv2530961,essv2567792,essv2567586,essv2541584,essv2570258,essv2553296,essv2535786,essv2572257,essv2566937,essv2542155,essv2550898,essv2569184,essv2543739,essv2556222,essv2573229,essv2533703,essv2555521,essv2566674,essv2573789,essv2522435,essv2572057,essv2575668,essv2538844,essv2526610,essv2560620,essv2560878,essv2574700,essv2530251,essv2572665,essv2568537,essv2545157,essv2560328,essv2548154,essv2571186,essv2545766,essv2574516,essv2551229,essv2536166,essv2537921,essv2548753,essv2563250 M 157 80 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA10847,NA11830,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11993,NA11994,NA11995,NA12044,NA12144,NA12154,NA12155,NA12489,NA12750,NA12751,NA12815,NA12872,NA12892,NA18489,NA18499,NA18502,NA18504,NA18507,NA18510,NA18516,NA18517,NA18522,NA18523,NA18537,NA18542,NA18547,NA18550,NA18558,NA18561,NA18563,NA18566,NA18570,NA18573,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18942,NA18944,NA18945,NA18948,NA18951,NA18960,NA18973,NA19099,NA19108,NA19114,NA19116,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv273235 15 93928753 93929048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583095,essv2584273,essv2584794,essv2583278 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 esv997670 15 93928769 93928769 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576656 S 3 1 0 "" HuRef nsv833102 15 94030218 94218219 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452101 S 95 1 0 "" esv1006528 15 94062557 94063231 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565484 S 3 1 0 "" HuRef nsv457266 15 94064986 94150930 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534493 S 1557 0 1 "" 1782681093_A esv1010985 15 94069948 94069948 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581983 S 3 1 0 "" HuRef nsv1680 15 94081357 94112224 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5576 S 9 1 0 "" NA19129 nsv904531 15 94115621 94150930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520471 S 6533 0 1 "" SP51084 nsv517693 15 94144839 94146079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683467,nssv656610,nssv652862 M 2026 0 3 "" dgv782e1 15 94219335 94439704 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23438,esv72 M 271 0 0 "" NA10854 nsv827446 15 94304857 94306308 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429431 S 31 0 1 "" AK12 esv2497228 15 94381991 94384663 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214345 S 1 0 1 "" NA18507 nsv9300 15 94382013 94384813 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26410 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv1957331 15 94382491 94384211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647724 S 1 0 1 "" NA18507 esv23454 15 94382691 94383998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10939 S 451 0 1 "" NA18858 nsv515711 15 94409963 94410825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659085,nssv672859,nssv682462,nssv688138,nssv682058,nssv660891,nssv664502,nssv656073,nssv660101,nssv672416 M 2026 0 10 "" esv25040 15 94456413 94457102 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16415 S 451 0 2 "" NA07037,NA12414 esv993819 15 94463199 94463250 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583972 S 3 0 1 "" HuRef esv1270605 15 94463199 94463251 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993553 S 2 0 1 "" HuRef nsv510408 15 94560525 94566525 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621429,nssv624172 M 4 0 2 "" NA15510,NA18994 nsv94578 15 94572729 94572779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113156 M 24 "" esv1010146 15 94617734 94635383 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563551 S 3 0 0 "" HuRef nsv1681 15 94637142 94649388 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7217 S 9 0 1 "" NA12156 dgv448n67 15 94652044 94721724 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827448,nsv827447 M 31 2 0 MIR1469,NR2F2 AK10,NA18968 nsv904532 15 94657205 94711444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510107 S 6533 0 1 MIR1469,NR2F2 SP54956 nsv827449 15 94667784 94687130 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427080 S 31 1 0 MIR1469,NR2F2 AK6 nsv827450 15 94674334 94678867 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433244 S 31 1 0 MIR1469,NR2F2 NA18972 esv21861 15 94674507 94675707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17720 S 451 0 2 NR2F2 NA07045,NA18511 nsv833103 15 94793749 94982390 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452102 S 95 1 0 "" nsv1682 15 94804089 94849215 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7218 S 9 0 1 "" NA12156 nsv94565 15 94841826 94842363 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113143 M 24 "" nsv523954 15 94884928 94886435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699803 S 2026 0 1 "" nsv95009 15 94885282 94885282 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113587 M 24 "" esv1355087 15 94885320 94885320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360478 S 2 1 0 "" HuRef nsv833105 15 94938373 95090825 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452103,nssv1452104,nssv1452105,nssv1452109,nssv1452106,nssv1452107,nssv1452108 M 95 7 0 "" esv24959 15 95062400 95070083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11281 S 451 0 1 "" NA12044 nsv94521 15 95063973 95064036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113099 M 24 "" esv1000659 15 95063998 95064047 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567159 S 3 0 1 "" HuRef nsv522924 15 95109592 95134814 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698585 S 2026 1 0 SPATA8 esv275145 15 95114282 95122682 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586044 S 1250 0 1 "" nsv904533 15 95117069 95136678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517113 S 6533 0 1 SPATA8 SP57190 esv270602 15 95122210 95122553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546378,essv2542403,essv2556806,essv2545506,essv2523304,essv2570513,essv2548516,essv2550581,essv2525509,essv2550485,essv2544416,essv2529184,essv2553901,essv2565392,essv2562784,essv2569665,essv2544985,essv2563079,essv2523729,essv2552999,essv2541449,essv2540401,essv2524495,essv2564784,essv2560971,essv2539609,essv2549480,essv2519907,essv2560153,essv2521946,essv2566074,essv2531248,essv2532670,essv2567398,essv2570262,essv2563651,essv2553130,essv2535578,essv2559266,essv2566736,essv2550877,essv2573240,essv2555282,essv2533503,essv2573809,essv2527560,essv2522571,essv2531439,essv2573347,essv2571896,essv2526802,essv2538703,essv2560388,essv2537955,essv2549120 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA11881,NA11919,NA11994,NA12003,NA12004,NA12044,NA12045,NA12155,NA12156,NA12234,NA12414,NA12749,NA12763,NA12812,NA18507,NA18520,NA18526,NA18532,NA18537,NA18542,NA18545,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18582,NA18593,NA18603,NA18605,NA18608,NA18638,NA18853,NA18858,NA18942,NA18943,NA18944,NA18951,NA18952,NA18960,NA18961,NA18964,NA18973,NA19005,NA19108,NA19190 esv1268027 15 95220956 95221020 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836541 S 2 0 1 "" HuRef esv268088 15 95386916 95387253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558189,essv2543869,essv2577584,essv2554977,essv2537205,essv2528524,essv2539940,essv2557283,essv2552641,essv2536933,essv2562918,essv2541100,essv2538403,essv2542864,essv2549200,essv2519580,essv2559959,essv2567751,essv2528913,essv2570145,essv2572458,essv2559362,essv2550897,essv2543597,essv2556307,essv2562487,essv2533936,essv2533764,essv2573505,essv2577112,essv2571919,essv2526971,essv2526663,essv2572768,essv2554740,essv2524983 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA10851,NA11992,NA12043,NA12872,NA12878,NA12891,NA18489,NA18499,NA18502,NA18517,NA18532,NA18545,NA18547,NA18550,NA18564,NA18566,NA18570,NA18577,NA18579,NA18593,NA18609,NA18638,NA18858,NA18870,NA18871,NA18909,NA18916,NA18944,NA18964,NA18970,NA18973,NA19005,NA19114,NA19143 esv272999 15 95386922 95387173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581700,essv2582554 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv783e1 15 95508704 95833748 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv860,essv6581 M 271 0 0 "" NA18621 nsv904534 15 95514770 95571562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598992 S 6533 0 1 "" IS41113 nsv528888 15 95560939 95583434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705571 S 2026 0 1 "" nsv471261 15 95560939 95609736 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545757 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01182 esv269997 15 95571204 95571535 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557903,essv2565569,essv2575954,essv2540833,essv2546167,essv2521326,essv2526075,essv2542453,essv2536598,essv2571052,essv2556666,essv2568313,essv2545429,essv2523472,essv2577223,essv2570450,essv2548294,essv2521810,essv2576633,essv2550843,essv2525334,essv2535045,essv2552258,essv2520572,essv2547593,essv2558284,essv2553647,essv2559448,essv2576160,essv2555004,essv2530614,essv2561809,essv2537349,essv2528365,essv2557288,essv2551653,essv2532204,essv2578581,essv2539065,essv2561357,essv2544764,essv2562801,essv2523513,essv2552766,essv2541154,essv2538208,essv2542945,essv2540577,essv2524515,essv2534649,essv2560981,essv2539785,essv2549420,essv2519891,essv2522179,essv2566005,essv2532585,essv2567964,essv2529026,essv2541471,essv2569951,essv2553300,essv2535532,essv2572251,essv2566844,essv2542006,essv2551117,essv2543793,essv2527859,essv2562532,essv2533867,essv2578240,essv2572975,essv2555268,essv2533502,essv2555493,essv2529864,essv2573928,essv2527467,essv2556032,essv2522562,essv2531621,essv2573441,essv2573296,essv2576915,essv2572045,essv2526982,essv2538708,essv2526534,essv2524017,essv2574955,essv2530339,essv2572691,essv2568646,essv2560199,essv2571203,essv2545800,essv2574268,essv2551254,essv2536074,essv2533427,essv2554783,essv2547897,essv2524917,essv2563425 M 157 105 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12489,NA12716,NA12717,NA12750,NA12763,NA12776,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA18499,NA18504,NA18505,NA18510,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18952,NA18956,NA18960,NA18961,NA18964,NA18969,NA18970,NA18973,NA19005,NA19108,NA19114,NA19129,NA19138,NA19141,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272252 15 95571205 95571534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581940,essv2582468,essv2584069,essv2584508,essv2583861 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1046235 15 95571238 95571238 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723981 S 2 1 0 "" HuRef nsv516857 15 95583434 95584661 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654473,nssv691187 M 2026 2 0 "" nsv904535 15 95602761 95650142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554370 S 6533 0 1 "" MS20753 esv23595 15 95605337 95633875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15704,esv17000,esv17744 M 451 0 5 "" NA07037,NA07045,NA12044,NA12414,NA18916 nsv437175 15 95607185 95640259 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467056 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07348 nsv437174 15 95607185 95730163 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467055 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 nsv820545 15 95609052 95616364 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421142 S 1 0 1 "" NA10851 nsv526813 15 95609736 95632771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703167 S 2026 0 1 "" nsv9301 15 95609763 95654654 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20501,nssv22310,nssv21602,nssv26114 M 31 2 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA12872,NA18502,NA18853 dgv329n27 15 95616714 95632771 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457269,nsv457268,nsv457270,nsv457267 M 1557 0 4 "" 1780854533_A,HGDP00146,HGDP00169,NINDS_13 nsv817710 15 95616714 95632771 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418027,nssv1418107,nssv1417071,nssv1415915,nssv1418106,nssv1417070,nssv1418028 M 112 0 7 "" NA07000,NA07029,NA07345,NA07348,NA10859,NA11882,NA11994 esv2421581 15 95616714 95633191 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107174,essv5046640,essv5159692,essv5048622,essv5033059,essv5114867,essv5059613,essv5028540,essv5077881,essv5093534,essv5006080,essv5085734,essv5124980,essv5113152,essv5136200,essv5080742,essv5020665,essv5080722,essv5091299,essv5002402,essv5099894,essv5116300,essv5050413,essv5023894,essv5075269,essv5136544,essv5147863,essv5155878,essv5155992,essv5142926,essv5032682,essv5083528,essv5053152,essv5133871,essv5126535,essv5130150,essv5071604,essv5146188,essv5079430,essv5116403,essv5141199,essv5113285,essv5017847,essv5149207,essv5105245,essv5131425,essv5083594,essv5072065,essv5134200,essv5153502,essv5130106,essv5141381,essv5154284 M 1184 0 53 "" NA06984,NA06989,NA07000,NA07029,NA07045,NA07345,NA07347,NA07348,NA10853,NA10859,NA10865,NA11839,NA11882,NA11891,NA11892,NA11994,NA12005,NA12383,NA12386,NA12399,NA12752,NA12760,NA12766,NA12775,NA12832,NA12843,NA12872,NA18621,NA19678,NA19680,NA19761,NA19763,NA20356,NA20358,NA20509,NA20510,NA20519,NA20535,NA20582,NA20589,NA20752,NA20797,NA20803,NA20852,NA20892,NA20896,NA20902,NA21089,NA21106,NA21113,NA21476,NA21597,NA21631 nsv517390 15 95616714 95660482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655839,nssv689753,nssv682417,nssv676548,nssv693133,nssv694773,nssv654622,nssv651881,nssv683975,nssv660990,nssv681158,nssv684543,nssv677469,nssv679378,nssv662985,nssv691376,nssv670346,nssv682840,nssv675464,nssv690548,nssv661535,nssv657237,nssv665763,nssv677847,nssv656039,nssv668900,nssv674338,nssv661980,nssv692513,nssv690126 M 2026 0 30 "" nsv442388 15 95618796 95633187 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514789 15 95627280 95633192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628248 S 1414 0 1 "" essv6081 15 95654446 95716640 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18621 esv268108 15 95697722 95697857 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511211,essv2500174,essv2505910,essv2502467,essv2512289,essv2493030,essv2502636,essv2506705,essv2498949 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12006,NA18861,NA18948,NA18949,NA18951,NA18965,NA19108,NA19114 nsv471262 15 95711357 95873050 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545759,nssv545758 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00684,HGDP00686 dgv330n27 15 95711357 95876724 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457272,nsv457271 M 1557 2 0 "" HGDP00684,HGDP00686 nsv904536 15 95716640 95764563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505312 S 6533 0 1 "" SP53368 nsv518083 15 95807506 95837235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695496 S 2026 0 1 "" esv2486945 15 95811074 95811147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355040 S 1 0 1 "" NA18507 nsv528742 15 95837235 95839609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705400 S 2026 0 1 "" nsv94265 15 95846987 95852557 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112843 M 24 "" dgv331n27 15 95881039 95943653 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457275,nsv457273 M 1557 0 2 "" HGDP00684,HGDP00686 nsv9303 15 95898147 95903274 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26133 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv524692 15 95949078 95952283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700667 S 2026 0 1 "" nsv457276 15 96010241 96049527 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534503 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00956 esv2006918 15 96027822 96028209 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592799 S 1 0 1 "" NA18507 esv1492963 15 96027943 96028089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602505 S 2 0 1 "" HuRef nsv904537 15 96033718 96162993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541964 S 6533 0 1 LOC91948 MS15573 nsv519913 15 96097417 96097480 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659450,nssv661927,nssv678320 M 2026 3 0 LOC91948 nsv525666 15 96097417 96115132 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701822 S 2026 1 0 LOC91948 nsv1683 15 96101678 96136911 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4177 S 9 1 0 LOC91948 NA12878 nsv515565 15 96146080 96147669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663922,nssv657840,nssv665583 M 2026 0 3 LOC91948 nsv457277 15 96149813 96170785 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534504 S 1557 0 1 LOC91948 1780854341_A esv271697 15 96150202 96150390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500177,essv2507743,essv2496804,essv2503063,essv2508998,essv2509223,essv2509437,essv2498868,essv2496984 M 157 9 0 Samples from several populations that are part of the HapMap project. LOC91948 NA12006,NA12751,NA18498,NA18507,NA18522,NA18909,NA19129,NA19138,NA19190 nsv524601 15 96175691 96178634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700562 S 2026 0 1 LOC91948 esv273895 15 96194972 96195210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579070 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC91948 NA19239 nsv904538 15 96296060 96650621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513854 S 6533 0 1 ARRDC4 SP55852 esv27194 15 96333665 96337463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15399 S 451 0 10 "" NA18502,NA18511,NA18523,NA18861,NA18907,NA18909,NA19108,NA19114,NA19129,NA19225 esv272502 15 96370982 96371369 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580595,essv2579046,essv2579529 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269039 15 96371034 96371365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525988,essv2570512,essv2520412,essv2558289,essv2564369,essv2554970,essv2552711,essv2551878,essv2561581,essv2544915,essv2552747,essv2542917,essv2524470,essv2565173,essv2560011,essv2530904,essv2567847,essv2567585,essv2553362,essv2542007,essv2549604,essv2546079 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12044,NA12716,NA12750,NA12751,NA12872,NA18502,NA18504,NA18523,NA18526,NA18542,NA18550,NA18555,NA18558,NA18570,NA18573,NA18577,NA18582,NA18605,NA18856,NA19225,NA19239 esv2554874 15 96401879 96403504 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232272 S 1 0 1 "" NA18507 esv2198005 15 96402346 96402712 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949307 S 1 0 1 "" NA18507 esv987799 15 96402403 96402507 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585596 S 3 0 1 "" HuRef esv27937 15 96414069 96417284 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10340 S 451 2 0 "" NA11995,NA18505 esv1243753 15 96523627 96523955 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128197 S 2 0 1 "" HuRef esv6718 15 96523628 96523948 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29159 S 1 0 1 "" SJK esv24010 15 96578026 96579718 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16523 S 451 0 2 "" NA11931,NA12044 esv25647 15 96598868 96601838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14997 S 451 0 1 "" NA18523 nsv516027 15 96600345 96601419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665799,nssv676985,nssv659833 M 2026 0 3 "" esv21938 15 96615822 96621235 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14958 S 451 2 0 "" NA11894,NA15510 esv2472066 15 96633723 96635377 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308423 S 1 0 1 "" NA18507 esv1928817 15 96634356 96635128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831291 S 1 0 1 "" NA18507 nsv827451 15 96634400 96635540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437045 S 31 1 0 "" NA18542 esv4286 15 96634494 96635259 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26727 S 1 0 1 Single Asian sample YH "" YH esv5991 15 96634530 96634988 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28432 S 1 0 1 "" SJK esv2479194 15 96634542 96634950 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311869 S 1 0 1 "" NA18507 esv2611919 15 96659081 96661887 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189916 S 1 0 1 "" NA18507 nsv820036 15 96659347 96661576 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419404 S 2 1 0 "" AK1 esv2296291 15 96659672 96661507 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648555 S 1 0 1 "" NA18507 dgv449n67 15 96659788 96661543 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827454,nsv827455,nsv827452 M 31 0 19 "" AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18564,NA18566,NA18592,NA18942,NA18949,NA18969,NA18972,NA18997,NA18999 nsv821021 15 96659788 96661543 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421143 S 1 0 1 "" NA10851 nsv512409 15 96659797 96662154 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625000 S 1 0 1 "" 1 esv25379 15 96659844 96661376 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14030 S 451 25 2 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18517,NA18858,NA18861,NA18909,NA19108,NA19114,NA19225,NA19240,NA19257 nsv94261 15 96659850 96661330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112839 M 24 "" nsv827456 15 96660655 96661339 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422483 S 31 0 1 "" NA18547 nsv510409 15 96668623 96674623 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621430 S 4 0 1 "" NA15510 nsv1684 15 96711831 96736162 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7219 S 9 0 1 "" NA12156 nsv512410 15 96716451 96718847 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625001 S 1 0 1 "" 1 esv2623414 15 96716920 96718904 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335634 S 1 0 1 "" NA18507 esv271680 15 96717549 96717634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519205,essv2515135,essv2519028 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12812,NA19141 nsv94782 15 96717595 96718160 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113360 M 24 "" esv2239744 15 96718729 96719148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566748 S 1 0 1 "" NA18507 nsv904539 15 96855377 96929526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541718,nssv1562939 M 6533 0 2 FAM169B MS15475,MS25782 nsv1685 15 96857931 96891920 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1278 S 9 1 0 FAM169B NA19240 esv990309 15 96863435 96878663 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564355 S 3 0 1 FAM169B HuRef esv3583 15 96883265 96883764 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26024 S 1 0 1 Single Asian sample YH "" YH esv997687 15 96883502 96883640 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575965 S 3 0 1 "" HuRef esv1018011 15 96883509 96883648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085327 S 2 0 1 "" HuRef nsv520313 15 96929526 96936134 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697342 S 2026 1 0 "" nsv517927 15 96930773 96950172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695339 S 2026 1 0 "" nsv519364 15 96931778 96936134 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696812 S 2026 1 0 "" nsv827457 15 97005862 97012477 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433246 S 31 1 0 IGF1R NA18972 esv27037 15 97007643 97011339 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14341,esv18990 M 451 0 2 IGF1R NA07045,NA18511 esv32729 15 97271356 97271921 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98237,essv97886,essv95533,essv99682,essv97722 M 51 5 0 IGF1R 21772,21837,21847,22217,22278 esv33604 15 97271553 97272241 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97127 S 51 1 0 IGF1R 22075 nsv526399 15 97305604 97307458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702698 S 2026 0 1 IGF1R nsv904540 15 97307458 97321960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543669 S 6533 0 1 IGF1R MS16153 nsv904541 15 97309568 97389923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599433 S 6533 0 1 IGF1R,PGPEP1L IS41634 nsv509583 15 97330638 97468302 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623680 S 4 1 0 PGPEP1L,SYNM NA18994 nsv904542 15 97330754 97389923 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565610 S 6533 1 0 PGPEP1L IS30480 nsv904543 15 97330754 97809029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520071 S 6533 1 0 LRRC28,PGPEP1L,SYNM,TTC23 SP50672 nsv904544 15 97342388 97485209 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512060 S 6533 1 0 PGPEP1L,SYNM SP55265 esv24968 15 97369336 97374254 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18009,esv17526 M 451 0 2 "" NA18909,NA19225 nsv904545 15 97375124 97459019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527150 S 6533 1 0 "" SP58202 esv2649532 15 97391310 97393700 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253504 S 1 0 1 "" NA18507 nsv512411 15 97391743 97393441 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625002 S 1 0 1 "" 1 esv1004919 15 97391748 97393387 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564958 S 3 0 1 "" HuRef nsv819542 15 97391984 97393190 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419196 S 2 1 0 "" AK1 esv6069 15 97392028 97393159 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28510 S 1 0 1 "" SJK esv1195561 15 97392035 97393161 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908852 S 2 0 1 "" HuRef nsv820891 15 97392091 97393150 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421144 S 1 0 1 "" NA10851 nsv827458 15 97392091 97393150 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433247,nssv1437047,nssv1431666,nssv1428672,nssv1426157,nssv1424580,nssv1429433,nssv1436192,nssv1427082,nssv1422194,nssv1429195,nssv1423780,nssv1434725,nssv1430409,nssv1430177,nssv1436186,nssv1435442,nssv1422969,nssv1427871,nssv1438462,nssv1439984,nssv1440679,nssv1425349,nssv1439300 M 31 0 24 "" AK10,AK12,AK14,AK18,AK2,AK4,AK6,AK8,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 esv27649 15 97392250 97392985 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12145 S 451 23 0 "" NA06985,NA07045,NA11931,NA11995,NA12044,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv827459 15 97392447 97393150 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430941 S 31 0 1 "" AK16 esv28850 15 97435103 97435813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16108 S 451 0 1 "" NA19147 nsv1686 15 97438608 97471192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4178 S 9 1 0 SYNM NA12878 esv1701723 15 97447673 97447673 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346245 S 2 1 0 "" HuRef esv22522 15 97461741 97463545 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20801 S 451 0 1 SYNM NA18511 nsv512412 15 97473846 97475555 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625003 S 1 0 1 SYNM 1 esv4381 15 97473985 97475107 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26822 S 1 0 1 Single Asian sample YH SYNM YH esv22082 15 97474099 97474934 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15942 S 451 0 3 SYNM NA11894,NA11993,NA15510 esv9228 15 97474124 97474918 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31669 S 1 0 1 SYNM SJK esv987621 15 97474124 97474920 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568000 S 3 0 1 SYNM HuRef nsv904546 15 97497178 97983823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512061 S 6533 1 0 LRRC28,MEF2A,TTC23 SP55265 nsv516288 15 97672532 97674372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667343,nssv662043,nssv691474,nssv683615 M 2026 0 4 LRRC28 esv268373 15 97712151 97712236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515854 S 157 1 0 Samples from several populations that are part of the HapMap project. LRRC28 NA12873 dgv2442n71 15 97757744 97809029 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904549,nsv904548,nsv904547 M 6533 0 3 "" IS40799,IS41894,MS10311 nsv519800 15 97768295 97804632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697058 S 2026 0 1 "" dgv2443n71 15 97771801 97800698 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904552,nsv904553,nsv904550,nsv904554,nsv904555,nsv904551 M 6533 0 6 "" IS31656,IS33684,IS35484,MS13770,MS17208,MS18276 dgv2444n71 15 97774477 97809029 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904557,nsv904556 M 6533 0 2 "" IS39233,MS16153 nsv519319 15 97790184 97809029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692748,nssv655400 M 2026 0 2 "" nsv516613 15 97819991 97821703 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673337,nssv669554 M 2026 2 0 "" nsv457278 15 97819991 97832702 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534505 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01234 nsv509584 15 97821706 97893835 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621017 S 4 1 0 "" NA15510 esv23940 15 97833164 97833809 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17862 S 451 2 0 "" NA12044,NA15510 esv988109 15 97833617 97833617 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572770 S 3 1 0 "" HuRef esv1522298 15 97833618 97833618 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157664 S 2 1 0 "" HuRef nsv904558 15 97836905 97989207 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520072 S 6533 1 0 MEF2A SP50672 esv269842 15 97936983 97937068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517394 S 157 1 0 Samples from several populations that are part of the HapMap project. MEF2A NA11918 esv2500079 15 97979283 97980728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379812 S 1 0 1 MEF2A NA18507 nsv513438 15 97991030 97991516 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625839 S 1 1 0 MEF2A 1 nsv904559 15 97992430 98072569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553838 S 6533 0 1 MEF2A MS20346 nsv904560 15 98014180 98156854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584463 S 6533 0 1 DNM1P46,LYSMD4,MEF2A IS37040 nsv904561 15 98022441 98304351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576536 S 6533 1 0 DNM1P46,LYSMD4,MEF2A IS34108 nsv904562 15 98032458 98055205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518377 S 6533 0 1 MEF2A SP57518 nsv428313 15 98053726 98574562 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452845,nssv452846 M 62 2 0 ADAMTS17,DNM1P46,LYSMD4,MEF2A HGDP00986,HGDP01094 nsv904563 15 98057069 98092270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516652 S 6533 0 1 LYSMD4,MEF2A SP56886 nsv904564 15 98062819 98541321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567053 S 6533 1 0 ADAMTS17,DNM1P46,LYSMD4,MEF2A IS31041 nsv94715 15 98081543 98082044 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113293 M 24 "" dgv784e1 15 98091816 98574562 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9638,esv626 M 271 0 0 ADAMTS17,DNM1P46 NA19141 esv2088394 15 98108205 98108587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739148 S 1 0 1 "" NA18507 nsv507797 15 98143176 98149176 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623199,nssv620594 M 4 2 0 DNM1P46 NA15510,NA18994 nsv522419 15 98144590 98441228 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705772 S 2026 0 1 ADAMTS17,DNM1P46 dgv332n27 15 98147574 98416756 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457281,nsv457279 M 1557 2 0 ADAMTS17,DNM1P46 HGDP00986,HGDP01094 dgv333n27 15 98147574 98582661 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457282,nsv457280 M 1557 2 0 ADAMTS17,DNM1P46 HGDP00684,HGDP00686 esv1007601 15 98153180 98153180 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578094 S 3 1 0 DNM1P46 HuRef esv1741156 15 98153181 98153181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334965 S 2 1 0 DNM1P46 HuRef esv2007166 15 98155933 98156363 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604609 S 1 0 1 DNM1P46 NA18507 esv26537 15 98157425 98239518 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17815,esv19799 M 451 35 2 DNM1P46 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1013345 15 98157482 98157482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282163 S 2 1 0 DNM1P46 HuRef nsv471263 15 98174957 98622819 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545762,nssv545763,nssv545761,nssv545760,nssv545764 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS17 HGDP00064,HGDP00684,HGDP00686,HGDP00986,HGDP01094 nsv522834 15 98174958 98416756 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698485 S 2026 1 0 ADAMTS17 esv34620 15 98175492 98409515 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985427,essv6985426,essv6980891,essv6980892,essv6980893 M 771 1 0 ADAMTS17 NA19141 essv12016 15 98175492 98422157 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ADAMTS17 NA19141 nsv817711 15 98177859 98414814 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416172 S 112 1 0 ADAMTS17 NA19141 nsv904565 15 98185369 98242128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579497,nssv1580618 M 6533 0 2 "" IS35114,IS35390 nsv904566 15 98185369 98472830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544149 S 6533 0 1 ADAMTS17 MS16271 nsv522360 15 98202923 98316888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695141 S 2026 0 1 "" nsv524759 15 98223699 98237023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700750 S 2026 0 1 "" nsv819276 15 98227031 98227917 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419108 S 2 0 1 "" AK1 nsv1687 15 98231041 98243453 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6649 S 9 0 1 "" NA12156 esv33145 15 98231984 98242507 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101577,essv98755,essv97529,essv101239,essv93819,essv100824,essv98143,essv94800,essv94120,essv96953,essv95691,essv95426,essv95345,essv97311,essv95780,essv99117,essv96621,essv98567,essv99675,essv100118,essv100464,essv99388,essv96340 M 51 0 23 "" 21603,21606,21616,21618,21634,21656,21772,21791,21802,21817,21841,21847,21872,21879,21911,21938,22011,22085,22217,22286,22298,22335,22371 nsv512413 15 98233023 98241571 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625004 S 1 0 1 "" 1 nsv827460 15 98233730 98242476 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430422,nssv1437782,nssv1429896,nssv1433248,nssv1439301,nssv1422195,nssv1427083,nssv1436197,nssv1422970,nssv1440680,nssv1430942,nssv1430306 M 31 0 12 "" AK16,AK6,NA18552,NA18564,NA18592,NA18947,NA18949,NA18968,NA18969,NA18972,NA18973,NA18997 nsv9304 15 98233842 98242083 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22340,nssv20531,nssv20015,nssv24827,nssv24761,nssv27602,nssv26028,nssv25500,nssv19960,nssv22675,nssv20149,nssv23206,nssv23795,nssv20692,nssv21744,nssv21696,nssv26152,nssv22840,nssv23759,nssv26425,nssv23169 M 31 19 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18572,NA18853,NA18860,NA18942,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819811 15 98233849 98240784 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419799 S 2 0 1 "" AK1 nsv820388 15 98234100 98242476 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421145 S 1 0 1 "" NA10851 nsv827461 15 98234148 98239654 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426158,nssv1424581,nssv1434004,nssv1435443,nssv1422495 M 31 0 5 "" AK4,NA18526,NA18547,NA18582,NA18942 nsv498855 15 98234184 98240762 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585716 S 9 0 1 "" esv992643 15 98234187 98241740 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564621 S 3 0 1 "" HuRef nsv514790 15 98234296 98239248 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628249 S 1414 0 0 "" nsv904567 15 98252586 98316888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499516 S 6533 0 1 "" SP50183 esv2634155 15 98283824 98286337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297534 S 1 0 1 "" NA18507 esv23704 15 98284065 98286470 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16151 S 451 10 3 "" NA06985,NA11894,NA12287,NA12489,NA12749,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18907,NA19257 esv998347 15 98284090 98286065 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586564 S 3 1 0 "" HuRef esv1293056 15 98284484 98285414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046544 S 2 0 1 "" HuRef nsv512414 15 98284618 98286725 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625005 S 1 0 1 "" 1 esv1582908 15 98285461 98285890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032750 S 2 0 1 "" HuRef esv1153792 15 98285939 98286027 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908788 S 2 0 1 "" HuRef dgv2445n71 15 98310312 98432642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904568,nsv904569 M 6533 2 0 ADAMTS17 MS10566,SP52700 nsv904570 15 98325256 98368245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546880 S 6533 0 1 ADAMTS17 MS17208 esv29151 15 98331556 98334541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10478 S 451 0 1 ADAMTS17 NA12828 nsv529040 15 98360917 98377291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705753 S 2026 0 1 ADAMTS17 nsv904571 15 98360917 98457140 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576537 S 6533 1 0 ADAMTS17 IS34108 esv2609224 15 98368722 98369377 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247481 S 1 1 0 ADAMTS17 NA18507 nsv833106 15 98388103 98574487 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452110 S 95 1 0 ADAMTS17 esv1002402 15 98407336 98409051 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586699 S 3 1 0 ADAMTS17 HuRef esv2470581 15 98415539 98416315 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197056 S 1 1 0 ADAMTS17 NA18507 esv2650135 15 98423638 98425262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304390 S 1 0 1 ADAMTS17 NA18507 esv2058680 15 98424340 98424883 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538820 S 1 0 1 ADAMTS17 NA18507 esv1039633 15 98424551 98424749 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651083 S 2 0 1 ADAMTS17 HuRef nsv528540 15 98459951 98472830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705152 S 2026 0 1 ADAMTS17 esv2042603 15 98459979 98460382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711152 S 1 0 1 ADAMTS17 NA18507 nsv904572 15 98460570 98554041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576538 S 6533 1 0 ADAMTS17 IS34108 nsv1689 15 98461005 98478994 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7220 S 9 0 1 ADAMTS17 NA12156 nsv507798 15 98464588 98470588 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623200 S 4 1 0 ADAMTS17 NA18994 esv32990 15 98533636 98552812 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99938 S 51 1 0 ADAMTS17 22086 dgv2446n71 15 98554041 98840407 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904573,nsv904580,nsv904579 M 6533 4 0 ADAMTS17,CERS3,FLJ42289 IS31825,IS34363,IS35558,IS37238 dgv2447n71 15 98554041 98959419 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904575,nsv904574,nsv904577,nsv904582,nsv904576 M 6533 5 0 ADAMTS17,CERS3,FLJ42289,LINS IS30539,IS31909,IS33800,IS35833,IS40396 nsv457284 15 98559551 98953582 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534510 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS17,CERS3,FLJ42289,LINS HGDP00064 nsv9305 15 98569684 98572715 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24786,nssv25523 M 31 2 0 Samples from several populations that are part of the HapMap project. ADAMTS17 NA18504,NA18517 nsv904578 15 98574626 98603313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570369 S 6533 1 0 ADAMTS17 IS31909 esv23977 15 98583251 98583886 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15223 S 451 0 1 ADAMTS17 NA12878 nsv904581 15 98595087 98705909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507670 S 6533 1 0 ADAMTS17,FLJ42289 SP54552 esv21445 15 98613761 98614531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10408 S 451 0 1 ADAMTS17 NA19114 nsv471264 15 98622005 98628117 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545766 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS17 HGDP00911 nsv457286 15 98622005 98633466 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534512 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS17 HGDP00911 esv269199 15 98628483 98628812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565673,essv2540986,essv2571564,essv2546351,essv2521044,essv2525931,essv2536717,essv2522747,essv2544208,essv2570839,essv2556732,essv2545540,essv2523203,essv2577620,essv2548558,essv2550628,essv2535165,essv2520459,essv2547153,essv2529180,essv2558471,essv2577680,essv2553911,essv2565519,essv2576302,essv2564179,essv2562005,essv2537632,essv2528302,essv2546695,essv2530508,essv2557262,essv2551675,essv2532405,essv2569223,essv2536844,essv2569690,essv2561505,essv2544678,essv2562876,essv2523699,essv2541155,essv2542750,essv2540579,essv2524379,essv2534780,essv2539671,essv2519631,essv2531227,essv2532607,essv2567903,essv2529049,essv2567303,essv2541480,essv2570197,essv2563705,essv2553278,essv2535627,essv2572344,essv2559030,essv2542162,essv2551013,essv2527815,essv2562297,essv2539374,essv2578173,essv2533559,essv2567205,essv2566521,essv2530093,essv2574025,essv2556077,essv2534360,essv2522495,essv2531337,essv2573382,essv2576916,essv2572122,essv2575516,essv2575075,essv2538848,essv2526658,essv2574841,essv2572680,essv2568725,essv2560335,essv2549868,essv2571404,essv2574378,essv2551633,essv2537722,essv2533252,essv2554607,essv2547900,essv2525091,essv2563444,essv2557841 M 157 97 0 Samples from several populations that are part of the HapMap project. ADAMTS17 NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12043,NA12045,NA12155,NA12249,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12814,NA12828,NA12874,NA12878,NA12891,NA12892,NA18486,NA18501,NA18504,NA18505,NA18508,NA18517,NA18520,NA18523,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18561,NA18563,NA18566,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18907,NA18909,NA18912,NA18940,NA18944,NA18947,NA18948,NA18949,NA18951,NA18956,NA18959,NA18960,NA18961,NA18964,NA18970,NA18973,NA19099,NA19102,NA19108,NA19114,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19240,NA19257 esv272800 15 98628485 98628814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582084,essv2582524,essv2583060,essv2583943,essv2583685 M 7 5 0 Samples from several populations that are part of the HapMap project. ADAMTS17 NA12878,NA12891,NA12892,NA19238,NA19240 esv1711191 15 98628516 98628516 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226714 S 2 1 0 ADAMTS17 HuRef esv271213 15 98630305 98630632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571623,essv2526287,essv2535107,essv2565418,essv2530623,essv2537343,essv2528238,essv2547046,essv2577108,essv2572761,essv2571507,essv2574221 M 157 12 0 Samples from several populations that are part of the HapMap project. ADAMTS17 NA11840,NA11918,NA12249,NA12812,NA12873,NA12878,NA12891,NA12892,NA18970,NA19143,NA19238,NA19240 esv274161 15 98630311 98630444 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581839,essv2582657,essv2583149,essv2584215,essv2583735 M 7 5 0 Samples from several populations that are part of the HapMap project. ADAMTS17 NA12878,NA12891,NA12892,NA19238,NA19240 esv1330314 15 98630340 98630340 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762603 S 2 1 0 ADAMTS17 HuRef nsv521725 15 98633466 98639099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694485 S 2026 0 1 ADAMTS17 esv1009964 15 98633673 98634448 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586415 S 3 0 1 ADAMTS17 HuRef nsv471265 15 98653979 98942605 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545767,nssv545768 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS17,CERS3,FLJ42289,LINS HGDP00064,HGDP00692 nsv457287 15 98657417 98770934 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534513 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS17,CERS3,FLJ42289 HGDP00692 esv5463 15 98710624 98710694 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27904 S 1 1 0 "" SJK esv271298 15 98716450 98716535 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514609,essv2515460,essv2514949,essv2515547,essv2518094,essv2516041,essv2517626,essv2517170,essv2513645 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA12249,NA12812,NA12815,NA12872,NA12873,NA12878,NA18970 esv273868 15 98716450 98716535 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581500 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1759614 15 98716502 98716502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681409 S 2 1 0 "" HuRef nsv904583 15 98736980 98813448 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508328 S 6533 1 0 CERS3 SP54552 esv1345442 15 98748684 98748684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008483 S 2 1 0 "" HuRef nsv523179 15 98820261 98820644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698892 S 2026 0 1 CERS3 nsv833107 15 98832609 99008349 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452112,nssv1452111 M 95 2 0 ASB7,CERS3,LINS esv1944504 15 98834955 98835378 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713513 S 1 0 1 CERS3 NA18507 nsv904584 15 98844160 98957930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581287 S 6533 1 0 CERS3,LINS IS35558 nsv904585 15 98845798 98893021 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508763 S 6533 1 0 CERS3 SP54552 nsv512415 15 98867492 98869933 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625006 S 1 0 1 CERS3 1 esv2581646 15 98868526 98870201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173577 S 1 0 1 CERS3 NA18507 esv2145822 15 98869098 98869563 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816816 S 1 0 1 CERS3 NA18507 esv3492 15 98869194 98869970 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25933 S 1 0 1 Single Asian sample YH CERS3 YH esv990393 15 98869261 98869699 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584966 S 3 0 1 CERS3 HuRef esv1759060 15 98869279 98869342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227686 S 2 0 1 CERS3 HuRef esv1058598 15 98869375 98869437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287146 S 2 0 1 CERS3 HuRef nsv94807 15 98869417 98869855 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113385 M 24 CERS3 esv1555633 15 98869479 98869793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260574 S 2 0 1 CERS3 HuRef esv6913 15 98869577 98869819 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29354 S 1 0 1 CERS3 SJK nsv1690 15 98872838 98922862 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7221,nssv4180 M 9 0 2 CERS3 NA12156,NA12878 nsv904586 15 98876458 98938486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585066 S 6533 1 0 CERS3,LINS IS37238 nsv523884 15 98893021 98938486 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699726 S 2026 0 1 CERS3,LINS esv1002087 15 98908128 98916140 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564338 S 3 0 1 "" HuRef esv2438161 15 98911594 98916383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292263 S 1 0 1 "" NA18507 nsv821185 15 98911956 98916536 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421147 S 1 0 1 "" NA10851 esv29191 15 98911971 98916331 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14212 S 451 20 2 "" NA07037,NA11931,NA11995,NA12004,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18861,NA19099,NA19129,NA19190,NA19225,NA19240,NA19257 nsv514791 15 98912096 98915672 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627157 S 1414 0 0 "" nsv498856 15 98912133 98916119 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585717 S 9 0 1 "" nsv904587 15 98916445 98957930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570371 S 6533 1 0 LINS IS31909 nsv523892 15 98920035 98925912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699735 S 2026 0 1 "" dgv2448n71 15 98922496 98938486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904589,nsv904588 M 6533 0 4 LINS SP50102,SP54579,SP54617,SP56004 esv2562323 15 98939547 98941070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314203 S 1 0 1 LINS NA18507 esv1000983 15 98939916 98940313 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567095 S 3 0 1 LINS HuRef nsv94263 15 98969226 98969547 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112841 M 24 ASB7 esv996526 15 98978261 98978352 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580111 S 3 0 1 ASB7 HuRef nsv94959 15 98978282 98978373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113537 M 24 ASB7 esv271148 15 98995656 98996011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498362,essv2497316,essv2504870,essv2497544,essv2502104 M 157 5 0 Samples from several populations that are part of the HapMap project. ASB7 NA18526,NA18545,NA19099,NA19147,NA19257 nsv516521 15 99012701 99017807 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668845,nssv690815,nssv685838 M 2026 0 3 "" esv1762138 15 99015894 99015894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912261 S 2 1 0 "" HuRef nsv94678 15 99018007 99018060 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113256 M 24 "" nsv528937 15 99047307 99121689 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705628 S 2026 1 0 "" nsv833108 15 99050206 99226308 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452113 S 95 1 0 "" esv1004266 15 99064071 99064174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575015 S 3 0 1 "" HuRef esv1140272 15 99064349 99064453 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957577 S 2 0 1 "" HuRef nsv94405 15 99064439 99064516 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112983 M 24 "" esv26130 15 99076632 99078092 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18801 S 451 6 4 "" NA11894,NA11931,NA12004,NA12878,NA15510,NA18505,NA18511,NA19129,NA19147,NA19190 nsv820361 15 99076632 99078092 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421148 S 1 0 1 "" NA10851 esv1464373 15 99077099 99077916 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332903 S 2 0 1 "" HuRef nsv469824 15 99117323 99291851 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649845 M 265 0 3 Samples from several populations that are part of the HapMap project. ALDH1A3,LRRK1 esv2489227 15 99158634 99160555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225147 S 1 0 1 "" NA18507 nsv9306 15 99158805 99162779 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22869 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 esv2210418 15 99158822 99160058 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937009 S 1 0 1 "" NA18507 esv3632 15 99158977 99160004 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26073 S 1 0 1 Single Asian sample YH "" YH nsv94580 15 99159014 99159896 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113158 M 24 "" esv5966 15 99159015 99159896 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28407 S 1 0 1 "" SJK esv24334 15 99159046 99159855 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15933 S 451 0 9 "" NA07045,NA12878,NA15510,NA18523,NA18909,NA19147,NA19190,NA19225,NA19240 dgv450n67 15 99159047 99159991 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827463,nsv827462 M 31 0 10 "" AK12,AK4,AK8,NA18537,NA18542,NA18564,NA18592,NA18949,NA18968,NA18997 nsv819167 15 99159071 99159893 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419093 S 2 0 1 "" AK1 dgv451n67 15 99159166 99159863 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827466,nsv827465 M 31 0 13 "" AK10,AK14,AK18,AK2,AK6,NA18526,NA18547,NA18566,NA18942,NA18947,NA18951,NA18969,NA18972 esv272883 15 99162505 99164686 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581430 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2372932 15 99202363 99202938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945796 S 1 0 1 "" NA18507 nsv904590 15 99226990 99241999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571532,nssv1596067,nssv1532478,nssv1576190,nssv1592917,nssv1565197,nssv1576279,nssv1576442,nssv1571931,nssv1573906,nssv1530820,nssv1533134,nssv1598544 M 6533 0 13 ALDH1A3 IS30369,IS32737,IS32841,IS33504,IS33935,IS34005,IS34057,IS39320,IS40396,IS40828,MS10311,MS10769,MS11022 dgv2449n71 15 99226990 99250451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904592,nsv904591 M 6533 0 2 ALDH1A3 MS16153,MS18276 nsv827467 15 99236432 99239596 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433250 S 31 1 0 ALDH1A3 NA18972 esv26584 15 99236848 99238168 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11549 S 451 0 1 ALDH1A3 NA12004 nsv457288 15 99242258 99282099 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534514 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH1A3,LRRK1 HGDP01012 esv4123 15 99266775 99267348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26564 S 1 0 1 Single Asian sample YH ALDH1A3 YH esv1276733 15 99267009 99267118 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990834 S 2 0 1 ALDH1A3 HuRef esv1234590 15 99267119 99267227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050107 S 2 0 1 ALDH1A3 HuRef esv993186 15 99267163 99267238 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583513 S 3 0 1 ALDH1A3 HuRef nsv904593 15 99268433 99282099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510108 S 6533 0 1 ALDH1A3,LRRK1 SP54956 nsv904594 15 99268433 99293837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549879 S 6533 0 1 ALDH1A3,LRRK1 MS18276 esv2547886 15 99269863 99271307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390239 S 1 0 1 ALDH1A3 NA18507 esv2046145 15 99270405 99271110 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711651 S 1 0 1 ALDH1A3 NA18507 esv4921 15 99270532 99271015 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27362 S 1 0 1 Single Asian sample YH ALDH1A3 YH esv9086 15 99270600 99270916 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31527 S 1 0 1 ALDH1A3 SJK esv1484966 15 99270604 99270913 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652337 S 2 0 1 ALDH1A3 HuRef nsv94665 15 99270605 99270913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113243 M 24 ALDH1A3 nsv833109 15 99290979 99484121 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452114 S 95 1 0 LRRK1 nsv516426 15 99297498 99315444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692347,nssv702318,nssv656567,nssv668291 M 2026 0 4 LRRK1 dgv785e1 15 99298613 99478425 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv206,essv21116 M 271 0 0 LRRK1 NA12815 esv1015225 15 99299161 99299161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668218 S 2 1 0 LRRK1 HuRef nsv95032 15 99320522 99320522 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113610 M 24 LRRK1 esv34275 15 99335000 99840279 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986771,essv6979017,essv6979018,essv6979019,essv6979020,essv6990316,essv6986772 M 771 1 0 CHSY1,LRRK1,PCSK6,SELS,SNRPA1 NA12815 esv33120 15 99355030 99357509 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98677 S 51 0 1 LRRK1 21606 esv33725 15 99370521 99413484 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99958 S 51 1 0 LRRK1 22086 nsv904595 15 99402859 99453627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573907 S 6533 0 1 LRRK1 IS33504 esv1932382 15 99409953 99410356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684943 S 1 0 1 LRRK1 NA18507 nsv94609 15 99410092 99410159 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113187 M 24 LRRK1 esv29279 15 99443670 99444235 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13687 S 451 1 0 "" NA18523 nsv9307 15 99453160 99456939 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26440,nssv25546,nssv26048,nssv24811 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA18860,NA19132 esv25093 15 99453501 99454196 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15124 S 451 1 0 "" NA18523 nsv94353 15 99458653 99458653 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv112931 M 24 "" nsv9308 15 99464839 99472536 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26454 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv904596 15 99471420 99531932 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597031 S 6533 1 0 "" IS40707 esv1429132 15 99488277 99488277 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256352 S 2 1 0 "" HuRef esv1007376 15 99488278 99488817 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586308 S 3 1 0 "" HuRef esv21846 15 99488278 99488817 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20866 S 451 3 0 "" NA06985,NA12156,NA12749 nsv820897 15 99488278 99488817 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421149 S 1 0 1 "" NA10851 nsv1691 15 99509769 99544963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1279 S 9 1 0 CHSY1 NA19240 nsv517593 15 99512552 99513774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700813,nssv660892,nssv658876,nssv659963,nssv652460 M 2026 0 5 "" nsv904597 15 99512552 99542756 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522600 S 6533 1 0 CHSY1 SP53262 nsv833110 15 99536874 99695116 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452116,nssv1452115 M 95 1 1 CHSY1,PCSK6,SELS,SNRPA1 dgv786e1 15 99537666 99872978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv775,essv22008 M 271 0 0 CHSY1,PCSK6,SELS,SNRPA1 NA12815 esv1000122 15 99543140 99543140 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577010 S 3 1 0 CHSY1 HuRef esv1358860 15 99543204 99543204 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832305 S 2 1 0 CHSY1 HuRef dgv787e1 15 99550339 99734009 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15811,essv18162,essv24253,essv7306,essv16891,essv9985,essv7169,essv24774,essv24695,essv14968,essv16797,essv18266,essv7596,essv2019,essv362 M 271 0 0 CHSY1,PCSK6,SELS,SNRPA1 NA10846,NA10856,NA10860,NA11829,NA12057,NA18545,NA18547,NA18570,NA18870,NA18872,NA18949,NA18971,NA19099,NA19205,NA19223 nsv428314 15 99550339 99734009 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452849 S 62 0 1 CHSY1,PCSK6,SELS,SNRPA1 NA19108 esv2488930 15 99569914 99574127 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185273 S 1 0 1 CHSY1 NA18507 nsv9309 15 99570510 99576884 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21804 S 31 0 1 Samples from several populations that are part of the HapMap project. CHSY1 NA18975 esv8823 15 99571027 99573939 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31264 S 1 0 1 CHSY1 SJK esv21841 15 99572156 99572635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20864 S 451 0 3 CHSY1 NA12006,NA18505,NA19114 esv2221765 15 99572312 99572667 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555360 S 1 0 1 CHSY1 NA18507 nsv904598 15 99593641 99712558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573908 S 6533 0 1 CHSY1,PCSK6,SELS,SNRPA1 IS33504 dgv452n67 15 99607424 99611711 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827469,nsv827468 M 31 2 0 CHSY1 NA18526,NA18972 esv27268 15 99607966 99611267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15636,esv14325 M 451 0 3 CHSY1 NA07037,NA07045,NA18511 nsv904599 15 99620480 99713394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576551 S 6533 1 0 PCSK6,SELS,SNRPA1 IS34111 dgv2450n71 15 99650211 99729071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904600,nsv904602 M 6533 0 2 PCSK6,SNRPA1 IS32322,MS16153 nsv457290 15 99658269 99682119 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534515 S 1557 0 1 PCSK6 1780854437_A nsv904601 15 99662447 99685010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530821 S 6533 0 1 PCSK6 MS10311 nsv9310 15 99664041 99668214 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27610,nssv23822,nssv26201 M 31 3 0 Samples from several populations that are part of the HapMap project. PCSK6 NA12155,NA18502,NA19221 nsv469741 15 99675228 99834481 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649762 M 265 0 0 Samples from several populations that are part of the HapMap project. PCSK6 nsv94947 15 99692125 99692223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113525 M 24 PCSK6 esv2422359 15 99704914 99951643 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161509 S 181 1 0 PCSK6 ND04845 essv21162 15 99707205 99872978 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PCSK6 NA12815 esv2244647 15 99718079 99718575 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680755 S 1 0 1 PCSK6 NA18507 esv2343291 15 99718904 99719314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570113 S 1 0 1 PCSK6 NA18507 esv1007750 15 99719063 99719119 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565836 S 3 0 1 PCSK6 HuRef nsv904603 15 99729071 99744596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546881 S 6533 0 1 PCSK6 MS17208 nsv457291 15 99745400 99948745 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534516 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCSK6 HGDP00654 nsv471266 15 99745400 99948745 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545769 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCSK6 HGDP00654 esv24793 15 99747547 99748072 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19769 S 451 1 0 PCSK6 NA11894 esv992073 15 99747906 99747906 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568262 S 3 1 0 PCSK6 HuRef esv1370843 15 99747918 99747918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167788 S 2 1 0 PCSK6 HuRef nsv523415 15 99765735 99964634 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699167 S 2026 1 0 PCSK6 nsv904604 15 99789578 99852790 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522611 S 6533 1 0 PCSK6 SP53280 nsv9311 15 99803466 99808360 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24852,nssv27648,nssv23767 M 31 3 0 Samples from several populations that are part of the HapMap project. PCSK6 NA11830,NA19221,NA19240 esv1625622 15 99817209 99817209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673169 S 2 1 0 PCSK6 HuRef esv22828 15 99817265 99818055 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17706 S 451 0 1 PCSK6 NA18505 nsv904605 15 99838011 99911601 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540126 S 6533 0 1 PCSK6 MS14702 dgv2451n71 15 99843069 99963674 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904608,nsv904606,nsv904607 M 6533 3 0 PCSK6 IS30277,IS31346,IS34271 esv27538 15 99846435 99848319 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14922 S 451 0 1 PCSK6 NA07045 esv2566603 15 99850808 99851873 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228152 S 1 1 0 "" NA18507 nsv457293 15 99852790 100091023 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534517 S 1557 1 0 TARSL2,TM2D3 1780862225_A dgv113e55 15 99853900 100210760 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751545,esv2751544 M 771 2 0 GPCRLTM7,OR4F15,OR4F6,TARSL2,TM2D3 BEC_594,SPC_100 nsv521907 15 99853919 99968896 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694109 S 2026 1 0 "" nsv518735 15 99857924 99858141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696184 S 2026 0 1 "" nsv528110 15 99858141 99858195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704652 S 2026 0 1 "" nsv904609 15 99881295 99962145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582719 S 6533 1 0 "" IS36105 nsv904610 15 99890887 99962145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566836 S 6533 0 1 "" IS30934 nsv509585 15 99891839 99913033 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619674,nssv621018,nssv618112 M 4 3 0 "" CHM,NA10860,NA15510 nsv1692 15 99895728 99906112 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5577,nssv4181 M 9 2 0 "" NA12878,NA19129 esv990838 15 99899981 99901612 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565777 S 3 1 0 "" HuRef nsv527365 15 99914018 99922217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703796 S 2026 0 1 "" nsv457298 15 99915149 99948745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534519 S 1557 0 1 "" NINDS_142 nsv525077 15 99927965 99933084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701132 S 2026 0 1 "" esv1944960 15 99928974 99929382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701018 S 1 0 1 "" NA18507 dgv2452n71 15 99938418 100028494 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904612,nsv904611 M 6533 4 0 TARSL2,TM2D3 IS34698,IS35624,IS41263,IS41780 nsv520327 15 99948745 99960170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690099,nssv662925 M 2026 0 2 "" esv268188 15 99955559 99955949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495237,essv2504439,essv2502145,essv2499551 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11992,NA11993,NA19257 dgv2453n71 15 99969565 100089798 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904613,nsv904614 M 6533 2 0 TARSL2,TM2D3 IS31765,IS40839 nsv528761 15 99975177 100066701 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705423 S 2026 1 0 TARSL2,TM2D3 dgv2454n71 15 99980176 100233184 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904615,nsv904617 M 6533 2 0 GPCRLTM7,OR4F15,OR4F6,TARSL2,TM2D3 IS40086,MS11032 esv29627 15 100012728 100013558 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19655 S 451 0 1 TARSL2 NA12878 nsv904616 15 100013355 100077066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576857 S 6533 1 0 TARSL2 IS34271 nsv523315 15 100021401 100066701 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699057 S 2026 1 0 TARSL2 nsv827470 15 100033446 100041645 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432451 S 31 1 0 TARSL2 AK20 esv1005771 15 100035399 100044085 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563972 S 3 0 1 TARSL2 HuRef nsv1693 15 100038691 100071268 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2122 S 9 1 0 TARSL2 NA18555 esv3057 15 100049972 100050506 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25498 S 1 0 1 Single Asian sample YH TARSL2 YH esv1418059 15 100050175 100050297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4295338 S 2 0 1 TARSL2 HuRef nsv521896 15 100065387 100091023 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694108 S 2026 1 0 TARSL2 nsv904618 15 100066701 100141979 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516570 S 6533 1 0 TARSL2 SP56861 nsv904619 15 100066701 100305991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549564 S 6533 1 0 GPCRLTM7,OR4F15,OR4F4,OR4F6,TARSL2 MS18267 dgv788e1 15 100089153 100248597 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv423,essv17824 M 271 0 0 GPCRLTM7,OR4F15,OR4F6 NA10831 nsv9312 15 100090390 100126280 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21632,nssv20179,nssv25569,nssv23197,nssv19990,nssv22338,nssv22646,nssv22704,nssv26468,nssv24836,nssv21993,nssv25507,nssv23786,nssv22370,nssv24877,nssv25484,nssv23794,nssv21726,nssv21834,nssv22444,nssv22306,nssv20722,nssv26220,nssv23234,nssv22336,nssv27656,nssv22517,nssv26067,nssv23849,nssv20045,nssv22898 M 31 28 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv509586 15 100094559 100142932 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621019,nssv618113,nssv623681,nssv619675 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv469708 15 100094758 100248597 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649729 M 265 3 0 Samples from several populations that are part of the HapMap project. GPCRLTM7,OR4F15,OR4F6 nsv1694 15 100105359 100128725 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1280,nssv10943,nssv10070,nssv6650,nssv2123 M 9 5 0 "" NA12156,NA15510,NA18555,NA18956,NA19240 nsv821057 15 100109257 100123072 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421150 S 1 0 1 "" NA10851 esv27669 15 100109920 100122597 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18149 S 451 38 1 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv133 15 100112732 100117754 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv133 S 1 1 0 "" NA15510 nsv94810 15 100121958 100122210 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv113388 M 24 "" esv2751291 15 100122652 100211000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981760,essv6981761 M 771 1 0 GPCRLTM7,OR4F15,OR4F6 BEC_335 nsv904620 15 100133723 100233184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507365 S 6533 0 1 GPCRLTM7,OR4F15,OR4F6 SP54543 nsv469527 15 100141542 100240311 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649620 M 265 0 0 Samples from several populations that are part of the HapMap project. GPCRLTM7,OR4F15,OR4F6 nsv524612 15 100144160 100184372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700573 S 2026 0 1 OR4F15,OR4F6 nsv519940 15 100146047 100184372 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680124,nssv659573 M 2026 2 0 OR4F15,OR4F6 nsv904621 15 100146047 100233184 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555756,nssv1583671,nssv1550091 M 6533 3 0 GPCRLTM7,OR4F15,OR4F6 IS36570,MS18288,MS21532 nsv9314 15 100176426 100222192 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26482,nssv22474,nssv26086 M 31 1 2 Samples from several populations that are part of the HapMap project. GPCRLTM7,OR4F15 NA10839,NA18860,NA19132 esv27561 15 100176880 100338508 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14401,esv20583,esv12265,esv18837 M 451 30 0 DDX11L9,FAM138E,GPCRLTM7,LOC100288778,OR4F4,WASH3P NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv517410 15 100198883 100215583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661901,nssv651937,nssv688763 M 2026 0 3 GPCRLTM7 nsv904622 15 100206215 100338915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584113,nssv1566616,nssv1565365 M 6533 3 0 DDX11L9,FAM138E,GPCRLTM7,LOC100288778,OR4F4,WASH3P IS30406,IS30824,IS36854 nsv9315 15 100217384 100338915 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21786,nssv26496,nssv26105,nssv24932,nssv20209,nssv22504,nssv20020,nssv23876,nssv25530,nssv22366,nssv23225,nssv21864,nssv24861,nssv21662,nssv24916,nssv22400,nssv23813,nssv20105,nssv27664,nssv25592 M 31 15 4 Samples from several populations that are part of the HapMap project. DDX11L9,FAM138E,LOC100288778,OR4F4,WASH3P NA07029,NA10839,NA10847,NA10863,NA12155,NA12802,NA18504,NA18517,NA18552,NA18572,NA18853,NA18860,NA18972,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 nsv471523 15 100218756 100336307 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547903,nssv547901,nssv547902 M 3 DDX11L9,FAM138E,LOC100288778,OR4F4,WASH3P nsv511553 15 100235129 100303929 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626178 S 1 0 1 OR4F4 1 nsv820527 15 100263331 100338508 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421151 S 1 1 0 DDX11L9,FAM138E,LOC100288778,OR4F4,WASH3P NA10851 dgv453n67 15 100277794 100298993 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827472,nsv827471 M 31 2 0 OR4F4 AK8,NA18999 nsv1695 15 100317256 100330545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4182 S 9 1 0 WASH3P NA12878 nsv514760 15 100320064 100327432 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627158 S 1414 0 0 WASH3P nsv9316 16 1 22774 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26510,nssv25615,nssv21894,nssv23262 M 31 2 2 Samples from several populations that are part of the HapMap project. DDX11L10,LOC100288778 NA12740,NA18517,NA18860,NA18975 nsv904623 16 1 83224 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530822,nssv1575300 M 6533 1 1 DDX11L10,LOC100288778,MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 IS33696,MS10311 dgv2455n71 16 1 181211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904625,nsv904624 M 6533 0 2 DDX11L10,HBA1,HBA2,HBM,HBQ1,HBZ,LOC100288778,LUC7L,MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 MS17208,MS18276 esv2422427 16 1 2713166 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161408 S 181 1 0 ABCA17P,ABCA3,AMDHD2,ARHGDIG,ATP6V0C,AXIN1,BAIAP3,C16orf11,C16orf13,C16orf42,C16orf59,C16orf73,C16orf79,C16orf91,C1QTNF8,CACNA1H,CASKIN1,CCDC154,CCDC78,CCNF,CEMP1,CHTF18,CLCN7,CRAMP1L,DDX11L10,DECR2,DNASE1L2,E4F1,ECI1,EME2,FAHD1,FAM173A,FAM195A,FBXL16,FLJ42627,GFER,GNG13,GNPTG,HAGH,HAGHL,HBA1,HBA2,HBM,HBQ1,HBZ,HN1L,HS3ST6,IFT140,IGFALS,ITFG3,JMJD8,KCTD5,LINC00235,LINC00254,LMF1,LOC100134368,LOC100288778,LOC100507321,LOC146336,LOC652276,LUC7L,MAPK8IP3,METRN,MIR1225,MIR3176,MIR3177,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR662,MIR940,MLST8,MPG,MRPL28,MRPS34,MSLN,MSLNL,NARFL,NDUFB10,NHLRC4,NME3,NME4,NOXO1,NPRL3,NPW,NTHL1,NTN3,NUBP2,PDIA2,PDPK1,PGP,PIGQ,PKD1,POLR3K,PRR25,PRSS27,PTX4,RAB11FIP3,RAB26,RAB40C,RGS11,RHBDF1,RHBDL1,RHOT2,RNF151,RNPS1,RPL3L,RPS2,RPUSD1,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SNRNP25,SOLH,SOX8,SPSB3,SSTR5,STUB1,SYNGR3,TBC1D24,TBL3,TELO2,TMEM204,TMEM8A,TPSAB1,TPSB2,TPSD1,TPSG1,TRAF7,TSC2,UBE2I,UNKL,WDR24,WDR90,WFIKKN1,ZNF598 ND01684 esv24534 16 72 24503 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17756,esv10314 M 451 18 3 DDX11L10,LOC100288778 NA07037,NA11894,NA11993,NA11995,NA12239,NA12287,NA12749,NA12776,NA18502,NA18505,NA18523,NA18858,NA18861,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19257 esv1448076 16 20494 20494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804636 S 2 1 0 "" HuRef dgv789e1 16 21052 133600 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24685,essv24282,essv4758,essv11205,essv10149,essv9057,essv11185,essv15748,essv11953,essv9422,essv11671,esv480,essv14317,essv14727,essv12276,essv10670,essv8172,essv16832,essv9369,essv16017,essv10268 M 271 0 0 MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 NA10856,NA11829,NA18501,NA18502,NA18506,NA18620,NA18853,NA18855,NA19101,NA19130,NA19131,NA19132,NA19154,NA19159,NA19194,NA19204,NA19205,NA19206,NA19208,NA19211 nsv522688 16 37354 45444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706098 S 2026 0 1 POLR3K,SNRNP25 nsv518291 16 37354 244515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695722 S 2026 0 1 HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,LUC7L,MPG,NPRL3,POLR3K,RHBDF1,SNRNP25 dgv2456n71 16 41263 73194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904629,nsv904627,nsv904626 M 6533 0 3 MPG,POLR3K,RHBDF1,SNRNP25 SP51109,SP54725,SP54988 nsv904628 16 45444 124390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572672,nssv1589763 M 6533 0 2 MPG,NPRL3,RHBDF1,SNRNP25 IS33162,IS38403 esv988339 16 46481 58285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563509 S 3 0 1 RHBDF1,SNRNP25 HuRef dgv2457n71 16 53924 73194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904633,nsv904632,nsv904630 M 6533 0 3 MPG,RHBDF1 SP54043,SP55019,SP55021 nsv904631 16 55185 79367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510109 S 6533 0 1 MPG,NPRL3,RHBDF1 SP54956 esv32706 16 69409 85537 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98863,essv99858 M 51 0 2 MPG,NPRL3 21606,22086 nsv9317 16 70368 79960 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26524 S 31 1 0 Samples from several populations that are part of the HapMap project. MPG,NPRL3 NA18860 esv26636 16 71670 72210 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18443 S 451 1 3 MPG NA11995,NA18502,NA18508,NA18858 nsv820705 16 71670 72210 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421152 S 1 1 0 MPG NA10851 esv1240373 16 71747 72032 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290375 S 2 0 1 MPG HuRef esv996836 16 72245 72245 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571559 S 3 1 0 MPG HuRef esv1393228 16 72246 72246 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060473 S 2 1 0 MPG HuRef nsv904634 16 73946 83224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509357 S 6533 0 1 MPG,NPRL3 SP54782 nsv904635 16 76258 161986 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519137 S 6533 1 0 HBM,HBZ,NPRL3 SP80957 nsv1697 16 81117 83756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10071 S 9 1 0 NPRL3 NA18956 esv1304431 16 88351 88351 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614672 S 2 1 0 NPRL3 HuRef dgv2458n71 16 116743 321142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904638,nsv904636 M 6533 0 2 ARHGDIG,AXIN1,HBA1,HBA2,HBM,HBQ1,HBZ,ITFG3,LUC7L,NPRL3,PDIA2,RGS11 IS37646,MS10769 nsv9318 16 131416 138537 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21692 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 nsv904637 16 132314 187889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584840,nssv1573072 M 6533 0 2 HBA1,HBA2,HBM,HBQ1,HBZ,LUC7L IS33239,IS37172 nsv827473 16 133564 175762 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427087 S 31 1 0 HBA1,HBA2,HBM,HBQ1,HBZ AK6 dgv2459n71 16 136497 158735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904643,nsv904644,nsv904639 M 6533 0 4 HBM,HBZ SP54002,SP54577,SP54680,SP55820 dgv2460n71 16 136497 177323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904642,nsv904647,nsv904645,nsv904641,nsv904640 M 6533 0 6 HBA1,HBA2,HBM,HBQ1,HBZ SP50979,SP54042,SP54725,SP54956,SP54988,SP55021 nsv904646 16 141389 158735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500239 S 6533 1 0 HBM,HBZ SP50561 esv1084861 16 143131 143131 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943877 S 2 1 0 HBZ HuRef nsv436840 16 143339 151455 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465526 S 2 1 0 Samples from several populations that are part of the HapMap project. HBZ NA18505 nsv827474 16 144259 152495 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429436 S 31 1 0 HBZ AK12 dgv2461n71 16 147742 177323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904650,nsv904651,nsv904648,nsv904649 M 6533 0 4 HBA1,HBA2,HBM,HBQ1 SP51109,SP54043,SP54469,SP54935 nsv512416 16 149540 151069 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625007 S 1 0 1 "" 1 esv27682 16 149785 151113 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18973 S 451 0 8 "" NA07037,NA11995,NA12878,NA15510,NA18858,NA19108,NA19225,NA19240 esv1428899 16 150780 150780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732930 S 2 1 0 "" HuRef nsv904652 16 152649 407586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575138 S 6533 0 1 ARHGDIG,AXIN1,DECR2,HBA1,HBA2,HBM,HBQ1,ITFG3,LOC100134368,LUC7L,MRPL28,NME4,PDIA2,RGS11,TMEM8A IS33684 esv26843 16 153274 153830 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14744 S 451 4 11 "" NA06985,NA07045,NA11894,NA12489,NA15510,NA18502,NA18505,NA18508,NA18523,NA18907,NA18909,NA19114,NA19129,NA19190,NA19257 esv993201 16 153339 153830 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586556 S 3 1 0 "" HuRef dgv2462n71 16 155379 175490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904656,nsv904653,nsv904655,nsv904654,nsv904658 M 6533 0 16 HBA1,HBA2,HBM,HBQ1 SP50084,SP50916,SP51485,SP52101,SP52604,SP53883,SP54442,SP54543,SP54648,SP54722,SP54789,SP55611,SP55670,SP56128,SP56271,SP56457 nsv1698 16 159147 185217 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4639 S 9 0 1 HBA1,HBA2,HBQ1,LUC7L NA19129 nsv904657 16 159744 165159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505364 S 6533 0 1 HBA2 SP53440 nsv433295 16 161986 165653 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463176 S 9 0 1 Samples from several populations that are part of the HapMap project. HBA2 NA19240 dgv2463n71 16 161986 167396 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904663,nsv904659 M 6533 0 6 HBA1,HBA2 SP50562,SP54173,SP54489,SP54726,SP55548,SP55660 nsv904660 16 161986 171167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511233 S 6533 0 1 HBA1,HBA2,HBQ1 SP55019 dgv2464n71 16 161986 175490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904664,nsv904666,nsv904665,nsv904667,nsv904661 M 6533 0 9 HBA1,HBA2,HBQ1 SP50559,SP52060,SP54510,SP55401,SP55797,SP55952,SP55984,SP56707,SP57577 esv24781 16 162083 167514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15758,esv12465,esv13572 M 451 0 6 HBA1,HBA2 NA18511,NA18909,NA19129,NA19190,NA19240,NA19257 nsv904662 16 163121 165653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499991 S 6533 0 1 HBA2 SP50097 esv2421557 16 163618 165653 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5126166,essv5061811,essv5106329,essv5065589,essv5151870,essv5057943,essv5088901,essv5141165,essv5112616,essv5149248,essv5137973,essv5113505,essv5068460,essv5127948,essv5025222,essv5034415,essv5155106,essv5125413,essv5027022,essv5032042,essv5096454,essv5156561,essv5131769,essv5085581,essv5115182,essv5047575,essv5077875,essv5085904,essv5026381,essv5106757,essv5032067,essv5099265,essv5053312,essv5023490,essv5099032,essv5005708,essv5041261,essv5042923,essv5160365,essv5019891,essv5071551,essv5027307,essv5030844,essv5017630,essv5116060,essv5033525,essv5110147,essv5145791,essv5079950,essv5136882,essv5099718,essv5133701,essv5052020,essv5092037,essv5130097,essv5027268,essv5106855,essv5143541,essv5152613,essv5071261,essv5110509,essv5017790,essv5155484,essv5029729,essv5132842,essv5013303,essv5139116,essv5161014,essv5126203,essv5133479,essv5018765,essv5089139,essv5155540,essv5026325,essv5023654,essv5071663,essv5012257,essv5105980,essv5049525,essv5015512,essv5104906,essv5113321,essv5063753,essv5154483,essv5046047,essv5145408,essv5034373,essv5006644,essv5125902,essv5065596,essv5007086,essv5010386,essv5056784,essv5094127,essv5119880,essv5132573,essv5058450,essv5047219,essv5027243,essv5084164,essv5123104,essv5024756,essv5085040,essv5127659,essv5154394,essv5054232,essv5128605,essv5158860,essv5090261,essv5124961,essv5031422,essv5079849,essv5096807,essv5095275,essv5034701,essv5159345,essv5062582,essv5085202,essv5127609,essv5126989,essv5103283,essv5006301,essv5123269,essv5111944,essv5013584,essv5059088,essv5090418,essv5099956,essv5013447,essv5042908,essv5079377,essv5102082,essv5067249,essv5120451,essv5020459,essv5139882,essv5154025,essv5075802,essv5034726,essv5121730,essv5117739,essv5058932,essv5032844,essv5032311,essv5121246,essv5154923,essv5109264,essv5002901,essv5050110,essv5088867,essv5058079,essv5146227,essv5089766,essv5080775,essv5017113,essv5090560,essv5148511,essv5006275,essv5035894,essv5152806 M 1184 0 160 HBA2 NA07037,NA10838,NA11830,NA12003,NA18486,NA18488,NA18498,NA18501,NA18503,NA18510,NA18511,NA18517,NA18520,NA18696,NA18859,NA18861,NA18867,NA18868,NA18869,NA18909,NA18912,NA18914,NA18916,NA18917,NA18930,NA18933,NA18935,NA18990,NA19035,NA19036,NA19038,NA19044,NA19093,NA19102,NA19107,NA19109,NA19114,NA19116,NA19117,NA19121,NA19122,NA19123,NA19129,NA19137,NA19138,NA19139,NA19146,NA19149,NA19151,NA19152,NA19154,NA19159,NA19161,NA19171,NA19172,NA19173,NA19176,NA19182,NA19183,NA19184,NA19190,NA19191,NA19193,NA19194,NA19198,NA19207,NA19214,NA19215,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19256,NA19257,NA19310,NA19318,NA19332,NA19347,NA19352,NA19371,NA19375,NA19376,NA19377,NA19379,NA19381,NA19382,NA19383,NA19390,NA19393,NA19394,NA19396,NA19430,NA19431,NA19434,NA19436,NA19438,NA19439,NA19443,NA19451,NA19452,NA19456,NA19457,NA19468,NA19470,NA19471,NA19473,NA19711,NA19819,NA19828,NA19835,NA19836,NA19900,NA19908,NA19915,NA19916,NA19917,NA19918,NA20277,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20301,NA20302,NA20317,NA20332,NA20336,NA20337,NA20340,NA20344,NA20345,NA20346,NA20347,NA20356,NA20542,NA20816,NA20818,NA20819,NA20853,NA20866,NA20879,NA20894,NA20896,NA20904,NA20906,NA20908,NA21086,NA21088,NA21106,NA21112,NA21333,NA21357,NA21379,NA21415 nsv433296 16 163618 167402 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463177 S 9 0 1 Samples from several populations that are part of the HapMap project. HBA1,HBA2 NA19129 nsv519528 16 165653 175490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656701,nssv676739 M 2026 0 2 HBA1,HBQ1 esv1603514 16 172793 172793 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816344 S 2 1 0 "" HuRef esv2526861 16 175688 178081 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283031 S 1 0 1 "" NA18507 esv4164 16 175939 177317 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26605 S 1 0 1 Single Asian sample YH "" YH esv22208 16 175963 177268 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19577 S 451 0 28 "" NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv512417 16 175970 177478 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625008 S 1 0 1 "" 1 esv995900 16 176038 177268 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586096 S 3 1 0 "" HuRef esv1279079 16 177188 177188 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360944 S 2 1 0 "" HuRef esv1473294 16 229198 229198 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859983 S 2 1 0 ITFG3 HuRef dgv32n68 16 235507 466227 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833112,nsv833111 M 95 0 21 ARHGDIG,AXIN1,DECR2,ITFG3,LOC100134368,MRPL28,NME4,PDIA2,RAB11FIP3,RGS11,TMEM8A dgv2465n71 16 244515 299568 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904668,nsv904670,nsv904669 M 6533 0 6 ARHGDIG,AXIN1,ITFG3,PDIA2,RGS11 IS32737,IS33239,IS35484,IS37172,IS38144,MS16153 dgv2466n71 16 244515 382806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904673,nsv904671,nsv904672 M 6533 0 3 ARHGDIG,AXIN1,ITFG3,LOC100134368,MRPL28,PDIA2,RGS11,TMEM8A IS33248,IS34005,MS10311 nsv904674 16 249525 279500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510909 S 6533 0 1 ARHGDIG,AXIN1,ITFG3,PDIA2,RGS11 SP54988 nsv827477 16 252247 287640 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433253 S 31 1 0 ARHGDIG,AXIN1,ITFG3,PDIA2,RGS11 NA18972 dgv2467n71 16 255840 299568 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904685,nsv904676,nsv904675,nsv904682,nsv904681,nsv904680 M 6533 0 9 ARHGDIG,AXIN1,ITFG3,PDIA2,RGS11 IS30369,IS39233,IS40502,MS10386,MS10698,MS16315,MS18276,SP54725,SP54956 esv2961 16 257438 258174 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25402 S 1 0 1 Single Asian sample YH "" YH nsv904677 16 257756 321142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572673 S 6533 0 1 ARHGDIG,AXIN1,PDIA2,RGS11 IS33162 dgv2468n71 16 259512 276917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904678,nsv904679 M 6533 0 5 ARHGDIG,PDIA2,RGS11 SP51109,SP54002,SP54042,SP54043,SP54591 dgv2469n71 16 259512 589761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904683,nsv904693,nsv904696 M 6533 0 3 ARHGDIG,AXIN1,C16orf11,DECR2,LINC00235,LOC100134368,MIR3176,MRPL28,NHLRC4,NME4,PDIA2,PIGQ,RAB11FIP3,RAB40C,RGS11,SOLH,TMEM8A IS32322,IS33504,IS41634 dgv2470n71 16 262935 277614 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904684,nsv904688,nsv904686,nsv904689,nsv904687 M 6533 0 18 ARHGDIG,AXIN1,PDIA2,RGS11 SP53969,SP54225,SP54577,SP54593,SP54621,SP54657,SP54672,SP54684,SP54750,SP54967,SP54979,SP55019,SP55021,SP55056,SP55318,SP56047,SP56223,SP81010 nsv904690 16 264053 281080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509358 S 6533 0 1 ARHGDIG,AXIN1,PDIA2,RGS11 SP54782 dgv2471n71 16 276397 321142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904692,nsv904691 M 6533 0 2 AXIN1,PDIA2 IS37985,MS17208 dgv2472n71 16 292737 382806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904694,nsv904695 M 6533 0 2 AXIN1,LOC100134368,MRPL28,TMEM8A IS33514,IS34304 nsv515838 16 299954 302639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664978,nssv675930 M 2026 0 2 AXIN1 nsv9319 16 320390 326361 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26538 S 31 1 0 Samples from several populations that are part of the HapMap project. AXIN1 NA18860 esv27385 16 321321 325727 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10928 S 451 1 0 AXIN1 NA18858 dgv2473n71 16 332462 425556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904706,nsv904705,nsv904703,nsv904702,nsv904704,nsv904697,nsv904701 M 6533 0 7 AXIN1,DECR2,LOC100134368,MRPL28,NME4,RAB11FIP3,TMEM8A IS30369,IS34235,IS39363,IS39417,IS40502,SP54956,SP54988 nsv904699 16 338152 360908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511235 S 6533 0 1 AXIN1,MRPL28,TMEM8A SP55019 nsv904700 16 338152 376258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508472,nssv1506053 M 6533 0 2 AXIN1,LOC100134368,MRPL28,TMEM8A SP54043,SP54725 esv996262 16 352983 352984 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584721 S 3 1 0 "" HuRef esv1698205 16 352999 352999 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109363 S 2 1 0 "" HuRef nsv517471 16 354931 372752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652116,nssv688023,nssv656779,nssv677727,nssv669579,nssv676851,nssv692244,nssv656947,nssv656881,nssv692915,nssv660431,nssv657136,nssv689453,nssv675522,nssv681829,nssv679775,nssv674339 M 2026 0 17 LOC100134368,MRPL28,TMEM8A nsv827478 16 358821 374137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433254 S 31 1 0 LOC100134368,MRPL28,TMEM8A NA18972 dgv2474n71 16 359155 441363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904712,nsv904708,nsv904710 M 6533 0 3 DECR2,LOC100134368,MRPL28,NME4,RAB11FIP3,TMEM8A MS19630,MS21340,SP55019 nsv513440 16 360225 360572 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625841 S 1 1 0 MRPL28 1 esv1353875 16 360391 360391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673229 S 2 1 0 MRPL28 HuRef nsv904709 16 364278 431406 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557472,nssv1581017,nssv1579189 M 6533 1 2 DECR2,LOC100134368,NME4,RAB11FIP3,TMEM8A IS35028,IS35487,MS22705 nsv904711 16 367821 395233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511501 S 6533 0 1 DECR2,LOC100134368,NME4,TMEM8A SP55021 esv33562 16 369121 373249 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98391 S 51 0 1 LOC100134368,TMEM8A 22352 nsv457303 16 373624 435663 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534520 S 1557 0 1 DECR2,LOC100134368,NME4,RAB11FIP3 1780862415_A nsv904713 16 381810 390784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506054 S 6533 0 1 LOC100134368,NME4 SP54043 nsv904714 16 381810 395233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501591 S 6533 0 1 DECR2,LOC100134368,NME4 SP51109 nsv904715 16 384277 531356 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519138 S 6533 1 0 DECR2,LINC00235,NME4,RAB11FIP3,SOLH SP80957 esv1430579 16 396841 396897 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244853 S 2 0 1 DECR2 HuRef nsv9320 16 417246 422557 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26124,nssv22460 M 31 0 2 Samples from several populations that are part of the HapMap project. RAB11FIP3 NA18853,NA19132 nsv521610 16 420097 435539 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698227 S 2026 1 0 RAB11FIP3 esv2642014 16 422972 423373 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209214 S 1 1 0 RAB11FIP3 NA18507 nsv904716 16 431406 531587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574944 S 6533 0 1 LINC00235,RAB11FIP3,SOLH IS33669 nsv528354 16 441363 595687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704939 S 2026 0 1 C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH nsv526903 16 441363 800674 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703263 S 2026 0 1 C16orf11,C16orf13,CCDC78,CHTF18,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,LINC00235,METRN,MIR3176,MIR662,MSLN,MSLNL,NARFL,NHLRC4,PIGQ,PRR25,RAB11FIP3,RAB40C,RHBDL1,RHOT2,RPUSD1,SOLH,STUB1,WDR24,WDR90,WFIKKN1 dgv2475n71 16 441363 836800 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904717,nsv904725 M 6533 0 2 C16orf11,C16orf13,CCDC78,CHTF18,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,LINC00235,METRN,MIR3176,MIR662,MSLN,MSLNL,NARFL,NHLRC4,PIGQ,PRR25,RAB11FIP3,RAB40C,RHBDL1,RHOT2,RPUSD1,SOLH,STUB1,WDR24,WDR90,WFIKKN1 IS31045,MS16153 nsv103435 16 442876 443195 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122013 M 24 RAB11FIP3 esv1003529 16 445612 449075 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563545 S 3 1 0 RAB11FIP3 HuRef nsv1700 16 447844 466641 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4183 S 9 1 0 RAB11FIP3 NA12878 esv1053020 16 448605 448605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718042 S 2 1 0 RAB11FIP3 HuRef esv21550 16 457490 458255 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16508 S 451 1 0 RAB11FIP3 NA19225 dgv2476n71 16 464306 589761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904721,nsv904722,nsv904723,nsv904718 M 6533 0 5 C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH IS32737,IS33239,IS33684,IS39363,MS10204 esv1621246 16 471971 471971 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196929 S 2 1 0 RAB11FIP3 HuRef nsv1701 16 475469 512734 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1283,nssv10072 M 9 2 0 RAB11FIP3 NA18956,NA19240 dgv2477n71 16 479141 552699 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904719,nsv904726 M 6533 0 2 C16orf11,LINC00235,MIR3176,RAB11FIP3,SOLH IS33630,IS38176 dgv2478n71 16 479141 581165 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv904720,nsv904730,nsv904733 M 6533 3 10 C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH IS32306,IS34051,IS34057,IS34124,IS34235,IS35484,IS35487,IS37172,IS38144,IS40396,IS41410,MS17825,MS18276 dgv2479n71 16 479141 742235 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904736,nsv904749,nsv904724,nsv904746,nsv904737,nsv904745 M 6533 0 7 C16orf11,C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,LINC00235,METRN,MIR3176,NARFL,NHLRC4,PIGQ,RAB11FIP3,RAB40C,RHBDL1,RHOT2,SOLH,STUB1,WDR24,WDR90,WFIKKN1 IS33797,MS10386,MS10769,MS11306,MS11726,MS13770,SP54956 esv1206343 16 482518 482518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299571 S 2 1 0 RAB11FIP3 HuRef esv1572768 16 484852 484852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115612 S 2 1 0 RAB11FIP3 HuRef esv26517 16 493918 495093 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13352 S 451 1 0 RAB11FIP3 NA06985 dgv2480n71 16 494575 589761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904740,nsv904735,nsv904727,nsv904728,nsv904734,nsv904732,nsv904731 M 6533 0 16 C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH IS30369,IS32841,IS32888,IS32918,IS33361,IS33514,IS34005,IS37985,IS39233,IS39417,IS40230,IS40297,IS40502,MS10311,MS11237,SP55021 nsv833113 16 496514 618161 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452145,nssv1452139,nssv1452138,nssv1452143,nssv1452144,nssv1452142,nssv1452140,nssv1452146,nssv1452141 M 95 0 9 C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH nsv833114 16 496514 649093 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452151,nssv1452147,nssv1452150,nssv1452149,nssv1452148 M 95 1 4 C16orf11,C16orf13,FAM195A,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH,WDR90,WFIKKN1 esv24273 16 500902 501977 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13767 S 451 1 0 RAB11FIP3 NA19225 nsv904729 16 501427 541633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509359 S 6533 0 1 LINC00235,MIR3176,RAB11FIP3,SOLH SP54782 dgv2481n71 16 509087 589761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904744,nsv904747,nsv904739,nsv904748,nsv904743,nsv904738 M 6533 0 8 C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH IS33178,IS33248,MS16315,MS17522,SP54043,SP54672,SP54988,SP55992 nsv471064 16 510624 585969 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545206 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf11,LINC00235,MIR3176,NHLRC4,PIGQ,RAB11FIP3,RAB40C,SOLH HGDP01219 nsv471063 16 510624 842323 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545202,nssv545205,nssv545194,nssv545191,nssv545192,nssv545197,nssv545201,nssv545200,nssv545204,nssv545190,nssv545195,nssv545203,nssv545193,nssv545196,nssv545199 M 443 0 14 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf11,C16orf13,CCDC78,CHTF18,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,LINC00235,METRN,MIR3176,MIR662,MSLN,MSLNL,NARFL,NHLRC4,PIGQ,PRR25,RAB11FIP3,RAB40C,RHBDL1,RHOT2,RPUSD1,SOLH,STUB1,WDR24,WDR90,WFIKKN1 HGDP00288,HGDP00290,HGDP00298,HGDP00302,HGDP00313,HGDP00323,HGDP00328,HGDP00591,HGDP00657,HGDP00789,HGDP00825,HGDP00882,HGDP00963,HGDP01397 dgv2482n71 16 515313 541633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904741,nsv904742 M 6533 0 2 LINC00235,MIR3176,SOLH SP54937,SP55019 esv1954677 16 521454 521844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870407 S 1 0 1 SOLH NA18507 nsv904750 16 531587 562212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509025 S 6533 0 1 C16orf11,MIR3176,NHLRC4,PIGQ,SOLH SP54725 dgv2483n71 16 531587 585969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904751,nsv904752 M 6533 0 2 C16orf11,MIR3176,NHLRC4,PIGQ,RAB40C,SOLH SP54684,SP56223 dgv2484n71 16 531587 650256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904757,nsv904753 M 6533 0 2 C16orf11,C16orf13,FAM195A,MIR3176,NHLRC4,PIGQ,RAB40C,SOLH,WDR90,WFIKKN1 IS39258,MS10123 dgv2485n71 16 531587 820774 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904770,nsv904769,nsv904754,nsv904758 M 6533 0 4 C16orf11,C16orf13,CCDC78,CHTF18,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,METRN,MIR3176,MIR662,MSLN,MSLNL,NARFL,NHLRC4,PIGQ,PRR25,RAB40C,RHBDL1,RHOT2,RPUSD1,SOLH,STUB1,WDR24,WDR90,WFIKKN1 IS33684,MS10311,MS19630,SP54988 nsv103268 16 540121 540190 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121846 M 24 SOLH esv1035948 16 540782 540782 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339497 S 2 1 0 SOLH HuRef nsv457304 16 544555 601143 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534521 S 1557 1 0 C16orf11,NHLRC4,PIGQ,RAB40C,SOLH NINDS_149 nsv511574 16 548265 550420 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626201 S 1 0 1 "" 1 esv25069 16 548975 550896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9885 S 451 0 1 C16orf11 NA12004 dgv2486n71 16 552699 589761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904755,nsv904756 M 6533 0 2 C16orf11,NHLRC4,PIGQ,RAB40C SP51109,SP56047 esv7476 16 561153 561242 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29917 S 1 0 1 PIGQ SJK esv1003846 16 569434 569553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574337 S 3 0 1 PIGQ HuRef esv1189330 16 569646 569814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770096 S 2 0 1 PIGQ HuRef esv1476139 16 574770 574923 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259288 S 2 0 1 "" HuRef esv1430130 16 589693 589693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361611 S 2 1 0 RAB40C HuRef nsv904759 16 592942 740822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597853 S 6533 0 1 C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RAB40C,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 IS41243 dgv334n27 16 595687 660987 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457309,nsv457308 M 1557 0 2 C16orf13,FAM195A,RAB40C,RHOT2,WDR90,WFIKKN1 HGDP00619,NINDS_119 nsv904760 16 595687 660987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576943 S 6533 0 1 C16orf13,FAM195A,RAB40C,RHOT2,WDR90,WFIKKN1 IS34304 dgv2487n71 16 595687 686885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904783,nsv904772,nsv904761,nsv904762,nsv904765,nsv904780,nsv904771 M 6533 0 8 C16orf13,FAM195A,FBXL16,JMJD8,RAB40C,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 IS33361,IS33455,IS33504,IS37172,IS40230,MS10204,MS10698,SP56223 nsv516590 16 595687 738490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680836,nssv689357,nssv669427,nssv687635,nssv662294,nssv675696,nssv678750,nssv683186,nssv686676,nssv672827 M 2026 0 10 C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RAB40C,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 dgv2488n71 16 595687 740822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904773,nsv904789,nsv904764,nsv904787,nsv904782,nsv904768,nsv904775,nsv904777,nsv904790,nsv904763,nsv904767,nsv904766,nsv904778,nsv904774,nsv904786,nsv904776 M 6533 0 22 C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RAB40C,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 IS30369,IS32737,IS32803,IS32841,IS33162,IS33178,IS33239,IS33340,IS34057,IS37985,IS38144,IS38293,IS39233,IS39363,IS39417,IS40297,MS17522,SP54043,SP54593,SP54672,SP54684,SP81010 esv1254347 16 596473 596473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690207 S 2 1 0 RAB40C HuRef esv27398 16 601068 603588 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19082 S 451 0 4 RAB40C NA12489,NA12878,NA18502,NA18916 nsv821458 16 601068 603588 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421153 S 1 0 1 RAB40C NA10851 esv2446759 16 601109 603496 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182044 S 1 0 1 RAB40C NA18507 esv1293738 16 602316 603005 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143047 S 2 0 1 RAB40C HuRef nsv904779 16 611683 640645 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514296 S 6533 0 1 C16orf13,FAM195A,RAB40C,WDR90,WFIKKN1 SP55992 nsv904781 16 611683 725280 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575287 S 6533 1 0 C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RAB40C,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 IS33691 nsv471065 16 619412 729762 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545207 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 HGDP00937 dgv2489n71 16 619413 640645 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904792,nsv904791,nsv904784 M 6533 0 3 C16orf13,FAM195A,WDR90,WFIKKN1 SP54725,SP55019,SP55021 nsv904785 16 619413 680467 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570110,nssv1590926,nssv1596069,nssv1564315 M 6533 2 2 C16orf13,FAM195A,JMJD8,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 IS30197,IS31800,IS38603,IS40396 dgv2490n71 16 620696 712843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904788,nsv904793 M 6533 0 2 C16orf13,CCDC78,FAM173A,FAM195A,FBXL16,JMJD8,METRN,RHBDL1,RHOT2,STUB1,WDR24,WDR90,WFIKKN1 SP51109,SP54937 nsv9321 16 628150 794329 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21816,nssv25638,nssv22733,nssv22023,nssv27672,nssv23290,nssv21722 M 31 6 1 Samples from several populations that are part of the HapMap project. CCDC78,CHTF18,FAM173A,FAM195A,FBXL16,GNG13,HAGHL,JMJD8,METRN,MIR662,MSLN,MSLNL,NARFL,RHBDL1,RHOT2,RPUSD1,STUB1,WDR24,WDR90 NA07029,NA07048,NA10863,NA12740,NA18517,NA18980,NA19221 nsv457310 16 641657 671726 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534524 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations JMJD8,RHBDL1,RHOT2,STUB1,WDR90 HGDP00747 dgv2491n71 16 641657 738490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904795,nsv904794 M 6533 0 2 CCDC78,FAM173A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RHBDL1,RHOT2,STUB1,WDR24,WDR90 IS34005,MS11022 nsv904796 16 650256 810951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544302 S 6533 0 1 CCDC78,CHTF18,FAM173A,FBXL16,GNG13,HAGHL,JMJD8,METRN,MIR662,MSLN,MSLNL,NARFL,PRR25,RHBDL1,RHOT2,RPUSD1,STUB1,WDR24,WDR90 MS16315 nsv904797 16 650256 888967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549883 S 6533 0 1 CCDC78,CHTF18,FAM173A,FBXL16,GNG13,HAGHL,JMJD8,LMF1,METRN,MIR662,MSLN,MSLNL,NARFL,PRR25,RHBDL1,RHOT2,RPUSD1,STUB1,WDR24,WDR90 MS18276 nsv827479 16 652981 653482 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437049 S 31 1 0 WDR90 NA18542 dgv2492n71 16 655061 726088 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904800,nsv904806,nsv904798 M 6533 0 3 CCDC78,FAM173A,FBXL16,HAGHL,JMJD8,METRN,NARFL,RHBDL1,RHOT2,STUB1,WDR24,WDR90 SP54042,SP54967,SP55021 esv1011191 16 655216 655265 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581842 S 3 0 1 WDR90 HuRef nsv103377 16 655363 655412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121955 M 24 WDR90 nsv904799 16 656288 675795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508144 S 6533 0 1 JMJD8,RHBDL1,RHOT2,STUB1,WDR24,WDR90 SP54725 nsv482180 16 658134 664171 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558541 S 1 1 0 RHOT2 KB1 nsv827480 16 662776 675289 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434007 S 31 1 0 JMJD8,RHBDL1,RHOT2,STUB1,WDR24 NA18526 nsv827481 16 663510 667123 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433255 S 31 1 0 RHBDL1,RHOT2 NA18972 dgv2493n71 16 664085 675795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904804,nsv904801 M 6533 0 4 JMJD8,RHBDL1,RHOT2,STUB1,WDR24 SP54591,SP54750,SP55019,SP55056 dgv2494n71 16 664634 699603 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904805,nsv904802,nsv904807 M 6533 0 3 FBXL16,JMJD8,RHBDL1,STUB1,WDR24 SP53969,SP54621,SP54979 nsv904803 16 665336 673188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507572 S 6533 0 1 JMJD8,RHBDL1,STUB1 SP54657 nsv482181 16 670116 672768 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558542 S 1 1 0 JMJD8,STUB1 KB1 nsv482182 16 671668 674440 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558543 S 1 1 0 JMJD8,STUB1 KB1 nsv457311 16 671726 751747 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534525 S 1557 0 1 CCDC78,FAM173A,FBXL16,HAGHL,JMJD8,METRN,MSLN,NARFL,STUB1,WDR24 1780862416_A nsv482183 16 674703 680401 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558544 S 1 1 0 WDR24 KB1 nsv827482 16 679906 682709 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435445 S 31 0 1 FBXL16,WDR24 NA18942 dgv454n67 16 680212 682952 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827485,nsv827484,nsv827483 M 31 3 0 FBXL16,WDR24 NA18542,NA18951,NA18969 nsv904808 16 680467 697167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509094 S 6533 0 1 FBXL16 SP54750 dgv2495n71 16 680467 724766 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904809,nsv904811 M 6533 0 2 CCDC78,FAM173A,FBXL16,HAGHL,METRN,NARFL SP54725,SP54935 nsv827486 16 682118 682590 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429918 S 31 1 0 FBXL16 NA18968 nsv904810 16 686915 704041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505837 S 6533 0 1 FBXL16 SP54002 nsv904812 16 690108 741628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510114 S 6533 0 1 CCDC78,FAM173A,FBXL16,HAGHL,METRN,NARFL SP54956 esv33054 16 695766 696426 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101585,essv95077,essv94304,essv97837,essv101632,essv94587,essv93419,essv99594,essv95050,essv99211,essv100470,essv96269 M 51 5 7 FBXL16 21603,21721,21808,21837,21909,21932,22128,22217,22231,22275,22298,22371 dgv2496n71 16 704041 718821 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904814,nsv904813 M 6533 0 2 CCDC78,FAM173A,HAGHL,METRN SP55056,SP56047 dgv2497n71 16 707520 723005 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904816,nsv904818,nsv904817,nsv904815 M 6533 0 6 CCDC78,FAM173A,HAGHL,NARFL SP50159,SP54225,SP54591,SP54750,SP54782,SP55019 esv2101941 16 735993 736673 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964155 S 1 0 1 "" NA18507 esv21742 16 736237 736927 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11163 S 451 2 0 "" NA07037,NA18511 nsv1702 16 741089 774289 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1285 S 9 1 0 MIR662,MSLN,MSLNL NA19240 dgv2498n71 16 746656 788756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904819,nsv904826,nsv904825,nsv904836 M 6533 0 6 CHTF18,GNG13,MIR662,MSLN,MSLNL,RPUSD1 IS30923,MS12262,SP50159,SP54684,SP54750,SP81010 dgv2499n71 16 746656 815403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904820,nsv904824,nsv904821,nsv904823,nsv904828,nsv904838,nsv904829,nsv904837,nsv904834,nsv904839,nsv904827 M 6533 0 17 CHTF18,GNG13,MIR662,MSLN,MSLNL,PRR25,RPUSD1 IS30369,IS33248,IS33361,IS33776,IS34057,IS34235,IS34304,IS35484,IS37172,IS37985,IS38144,IS39233,IS40297,IS41243,MS17208,SP54043,SP54725 dgv2500n71 16 746656 847715 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904833,nsv904840,nsv904822,nsv904832,nsv904831,nsv904835,nsv904830 M 6533 0 8 CHTF18,GNG13,LMF1,MIR662,MSLN,MSLNL,PRR25,RPUSD1 IS32737,IS32888,IS33162,IS33239,IS40230,MS10698,MS11237,SP54956 nsv457312 16 750040 787744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534526 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHTF18,MIR662,MSLN,MSLNL,RPUSD1 HGDP00602 nsv517488 16 750040 800674 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652170,nssv676853 M 2026 0 2 CHTF18,GNG13,MIR662,MSLN,MSLNL,PRR25,RPUSD1 esv1380569 16 750501 750501 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3669101 S 2 1 0 "" HuRef esv27245 16 757356 758166 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17233 S 451 1 2 MSLN NA12044,NA19108,NA19240 nsv817712 16 764099 800674 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417304 S 112 0 1 CHTF18,GNG13,MSLNL,PRR25,RPUSD1 NA18608 nsv904841 16 769584 786799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510537 S 6533 0 1 CHTF18,MSLNL,RPUSD1 SP54967 nsv904842 16 775299 788756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511241,nssv1508393,nssv1511505,nssv1508598 M 6533 0 4 CHTF18,GNG13,RPUSD1 SP54591,SP54672,SP55019,SP55021 nsv904843 16 775299 820774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599134 S 6533 0 1 CHTF18,GNG13,PRR25,RPUSD1 IS41410 nsv904844 16 775299 847715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570796 S 6533 0 1 CHTF18,GNG13,LMF1,PRR25,RPUSD1 IS32322 nsv904845 16 780379 792138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519139 S 6533 1 0 CHTF18,GNG13 SP80957 dgv2501n71 16 787744 842323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904846,nsv904847 M 6533 0 2 CHTF18,GNG13,PRR25 MS10769,MS13095 dgv2502n71 16 787744 888967 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904850,nsv904848 M 6533 0 2 CHTF18,GNG13,LMF1,PRR25 IS33504,IS39233 nsv482184 16 788042 790734 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558545 S 1 1 0 CHTF18,GNG13 KB1 nsv904849 16 795718 835080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519140 S 6533 1 0 PRR25 SP80957 dgv791e1 16 804894 1111069 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19505,essv18726,essv22878,essv4797,essv19991,essv5295,essv1598,essv3344,essv2054,essv2880,essv6987,essv2687 M 271 0 0 C1QTNF8,LMF1,LOC146336,SOX8,SSTR5 NA07048,NA12760,NA12864,NA12874,NA18612,NA18620,NA18624,NA18942,NA18945,NA18949,NA18953,NA18967 nsv9322 16 806062 809072 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26239 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 esv7804 16 808676 808768 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30245 S 1 1 0 "" SJK esv2480961 16 808751 809078 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255281 S 1 1 0 "" NA18507 esv1660032 16 808897 808897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3822832 S 2 1 0 "" HuRef esv2507147 16 813825 814765 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352105 S 1 1 0 "" NA18507 esv2560070 16 816048 817497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258178 S 1 0 1 "" NA18507 esv1951887 16 816449 817157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877270 S 1 0 1 "" NA18507 esv6185 16 816636 817000 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28626 S 1 0 1 "" SJK nsv457315 16 818325 1192442 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534527 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1QTNF8,CACNA1H,LMF1,LOC146336,SOX8,SSTR5 HGDP00860 nsv9323 16 822150 825098 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22534 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 nsv1703 16 822785 824518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5578 S 9 1 0 "" NA19129 nsv1704 16 826424 857932 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5579,nssv1286,nssv9961,nssv4184,nssv6652,nssv2126 M 9 6 0 LMF1 NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 nsv103363 16 829941 829941 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121941 M 24 "" nsv103236 16 829953 829953 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121814 M 24 "" nsv524198 16 832019 842323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700082 S 2026 0 1 "" esv999714 16 836438 839794 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563713 S 3 1 0 "" HuRef esv26828 16 836580 837295 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20363 S 451 2 3 "" NA11931,NA12156,NA12828,NA15510,NA19190 nsv821300 16 836580 837295 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421154 S 1 1 0 "" NA10851 esv1285354 16 836825 836825 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334397 S 2 1 0 "" HuRef esv1030423 16 840680 840680 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718612 S 2 1 0 "" HuRef nsv9326 16 846662 857236 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26582,nssv23253,nssv24941 M 31 0 3 Samples from several populations that are part of the HapMap project. LMF1 NA18504,NA18860,NA19173 nsv820488 16 847349 850202 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421155 S 1 1 0 LMF1 NA10851 esv2469718 16 847349 850265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329342 S 1 0 1 LMF1 NA18507 esv25389 16 847349 850794 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20024 S 451 0 13 LMF1 NA18502,NA18505,NA18508,NA18511,NA18517,NA18909,NA18916,NA19108,NA19114,NA19129,NA19190,NA19240,NA19257 esv1450859 16 847730 847730 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974106 S 2 1 0 LMF1 HuRef nsv512418 16 848123 851432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625009 S 1 0 1 LMF1 1 esv1454326 16 849437 849437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706059 S 2 1 0 LMF1 HuRef esv1435391 16 849555 849555 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200344 S 2 1 0 LMF1 HuRef esv1349427 16 849602 849602 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646705 S 2 1 0 LMF1 HuRef nsv457316 16 874181 923164 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534528 S 1557 0 1 LMF1 1780862388_A esv2619578 16 875568 877061 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324230 S 1 0 1 LMF1 NA18507 nsv1705 16 880582 913386 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7222,nssv4185 M 9 2 0 LMF1 NA12156,NA12878 nsv523227 16 883362 916555 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698950 S 2026 1 0 LMF1 nsv471066 16 883362 1472838 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545227,nssv545211,nssv545228,nssv545208,nssv545225,nssv545216,nssv545230,nssv545229,nssv545226,nssv545215,nssv545232,nssv545219,nssv545213,nssv545217,nssv545222,nssv545210,nssv545214,nssv545221,nssv545224,nssv545223,nssv545218,nssv545212 M 443 0 19 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAIAP3,C16orf42,C16orf91,C1QTNF8,CACNA1H,CCDC154,CLCN7,GNPTG,LMF1,LOC146336,SOX8,SSTR5,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I,UNKL HGDP00288,HGDP00290,HGDP00298,HGDP00302,HGDP00313,HGDP00326,HGDP00328,HGDP00657,HGDP00789,HGDP00825,HGDP00882,HGDP00883,HGDP00895,HGDP00954,HGDP00959,HGDP00960,HGDP01397,HGDP01398,HGDP01412 nsv103501 16 884015 884299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122079 M 24 LMF1 esv1205211 16 884121 884121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253534 S 2 1 0 LMF1 HuRef esv1426273 16 884144 884144 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921601 S 2 1 0 LMF1 HuRef esv25994 16 890041 895968 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19817,esv20669 M 451 7 3 LMF1 NA07037,NA07045,NA12004,NA12044,NA12239,NA12776,NA15510,NA18511,NA18916,NA19257 nsv103465 16 893618 893618 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122043 M 24 LMF1 esv1603029 16 893663 893756 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158929 S 2 0 1 LMF1 HuRef nsv103751 16 893701 893793 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122329 M 24 LMF1 nsv103466 16 893868 894004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122044 M 24 LMF1 esv1765705 16 893927 894019 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656249 S 2 0 1 LMF1 HuRef dgv2503n71 16 894019 934365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904853,nsv904852,nsv904851 M 6533 0 5 LMF1 IS38176,IS39233,IS39417,MS10769,MS18276 esv1257169 16 894099 894515 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020981 S 2 0 1 LMF1 HuRef esv996453 16 901773 905988 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564197 S 3 1 0 LMF1 HuRef esv3733 16 904551 904814 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26174 S 1 0 1 Single Asian sample YH LMF1 YH esv1668126 16 904650 904650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686476 S 2 1 0 LMF1 HuRef esv1003091 16 907404 907498 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577286 S 3 0 1 LMF1 HuRef esv1270715 16 907404 907499 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711414 S 2 0 1 LMF1 HuRef nsv103789 16 908786 908786 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122367 M 24 LMF1 nsv9327 16 909128 910800 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21846 S 31 0 1 Samples from several populations that are part of the HapMap project. LMF1 NA10863 esv1213288 16 909580 909580 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849480 S 2 1 0 LMF1 HuRef esv26288 16 912543 913208 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10978 S 451 0 14 LMF1 NA11931,NA12004,NA12414,NA15510,NA18502,NA18505,NA18517,NA18523,NA18916,NA19108,NA19114,NA19129,NA19147,NA19225 nsv821033 16 912543 913278 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421156 S 1 1 0 LMF1 NA10851 esv1180581 16 912888 912953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644871 S 2 0 1 LMF1 HuRef nsv904854 16 916555 934365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538693 S 6533 0 1 LMF1 MS13770 nsv457317 16 919007 935895 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534529 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LMF1 HGDP00864 dgv792e1 16 919651 1111069 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17564,essv24043,essv1856,essv18222,essv1498,essv22217,essv15221,essv17752,essv20222,essv24280,essv23418,essv17602,essv21720,essv7363,essv4459,essv17468,essv12399,essv19454,essv439,essv9888,essv6907,essv4595,essv2446,essv2518,essv17043,essv21177,essv119,essv19233,essv5394,essv16329,essv23075,essv22513,essv24860,essv11634,essv19917,essv4188,essv24967,essv14072,essv15320,essv7767,essv21147,essv12755,essv2343,essv21320,essv20594,essv21414,essv1129,essv18652,essv1461,essv4000,essv354 M 271 0 0 C1QTNF8,LMF1,LOC146336,SOX8,SSTR5 NA07000,NA07056,NA10831,NA10838,NA10839,NA10854,NA10856,NA10859,NA11830,NA11840,NA11882,NA12043,NA12044,NA12057,NA12144,NA12234,NA12248,NA12717,NA12753,NA12762,NA12812,NA12813,NA12815,NA12878,NA18524,NA18526,NA18542,NA18552,NA18563,NA18570,NA18605,NA18861,NA18862,NA18914,NA18940,NA18944,NA18952,NA18964,NA18968,NA18970,NA18971,NA18976,NA18980,NA18999,NA19003,NA19094,NA19145,NA19154,NA19172,NA19193,NA19238 nsv428316 16 919651 1353254 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452871,nssv452870,nssv452872,nssv452891 M 62 2 2 BAIAP3,C16orf42,C1QTNF8,CACNA1H,GNPTG,LMF1,LOC146336,SOX8,SSTR5,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I,UNKL NA19113,NA19147,NA19225,NA19257 esv1151031 16 920054 920113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838954 S 2 0 1 LMF1 HuRef esv999223 16 920074 920132 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573259 S 3 0 1 LMF1 HuRef nsv833116 16 923071 1111069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452152,nssv1452153 M 95 0 2 C1QTNF8,LMF1,LOC146336,SOX8,SSTR5 esv22962 16 923425 944273 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10830,esv19328 M 451 1 30 LMF1 NA06985,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19257 nsv1706 16 924545 948579 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1287,nssv5580 M 9 2 0 LMF1 NA19129,NA19240 esv1557013 16 939021 939071 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013407 S 2 0 1 LMF1 HuRef esv1287045 16 940104 940155 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303923 S 2 0 1 LMF1 HuRef esv1335310 16 940200 940250 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887123 S 2 0 1 LMF1 HuRef nsv904855 16 940495 985385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588240 S 6533 0 1 LMF1,SOX8 IS38176 esv1770051 16 941055 941131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591948 S 2 0 1 LMF1 HuRef esv1117925 16 942933 942933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597288 S 2 1 0 LMF1 HuRef esv1552882 16 943396 943908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819758 S 2 0 1 LMF1 HuRef esv1581035 16 943929 944039 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134567 S 2 0 1 LMF1 HuRef dgv2504n71 16 944555 1237072 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904879,nsv904891,nsv904878,nsv904880,nsv904870,nsv904863,nsv904862,nsv904885,nsv904889,nsv904884,nsv904856 M 6533 0 11 C1QTNF8,CACNA1H,LMF1,LOC146336,SOX8,SSTR5,TPSAB1,TPSB2,TPSG1 IS32322,IS33248,IS33504,IS35484,IS37172,IS38403,MS11237,MS12262,MS13095,MS13727,MS16315 esv8383 16 945103 945435 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30824 S 1 0 1 LMF1 SJK esv1159146 16 945151 945151 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945491 S 2 1 0 LMF1 HuRef nsv103556 16 945278 945423 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122134 M 24 LMF1 nsv9328 16 945660 952864 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22490,nssv23930,nssv20782,nssv20050,nssv23903,nssv25553,nssv26143,nssv22676,nssv22792,nssv20135,nssv22564 M 31 4 7 Samples from several populations that are part of the HapMap project. LMF1 NA10839,NA10847,NA12155,NA12802,NA18853,NA18942,NA18972,NA18980,NA19007,NA19132 esv33870 16 946346 947315 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95102,essv101325,essv92680,essv96242,essv95996,essv93496,essv99735,essv99252,essv100526 M 51 0 9 LMF1 21721,21805,21944,22007,22127,22128,22217,22275,22298 dgv2505n71 16 949036 1536260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904873,nsv904857,nsv904864,nsv904876,nsv904875,nsv904912,nsv904874 M 6533 0 7 BAIAP3,C16orf42,C16orf91,C1QTNF8,CACNA1H,CCDC154,CLCN7,GNPTG,IFT140,LMF1,LOC146336,PTX4,SOX8,SSTR5,TELO2,TMEM204,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I,UNKL IS31045,IS33684,IS37646,MS10769,MS11306,MS16153,MS18276 esv2373372 16 950154 950566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760123 S 1 0 1 LMF1 NA18507 esv2252142 16 950247 952253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4600025 S 1 0 1 LMF1 NA18507 esv25730 16 950302 952307 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19376 S 451 4 2 LMF1 NA07037,NA11931,NA12287,NA12776,NA15510,NA19240 nsv820864 16 950302 952307 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421158 S 1 0 1 LMF1 NA10851 esv2530165 16 950394 952280 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181577 S 1 0 1 LMF1 NA18507 dgv2506n71 16 952751 1032102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904859,nsv904858 M 6533 0 2 LMF1,SOX8 IS38293,IS39233 dgv2507n71 16 952751 1095026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904869,nsv904860 M 6533 0 2 C1QTNF8,LMF1,LOC146336,SOX8,SSTR5 IS33239,MS13770 nsv904861 16 952751 1095026 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564430 S 6533 1 0 C1QTNF8,LMF1,LOC146336,SOX8,SSTR5 IS30210 nsv904865 16 956058 980850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509361 S 6533 0 1 LMF1,SOX8 SP54782 nsv457319 16 956058 987730 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534531 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LMF1,SOX8 HGDP01271 dgv2508n71 16 956058 993818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904866,nsv904868,nsv904867 M 6533 0 3 LMF1,SOX8 MS10123,SP54956,SP54988 dgv2509n71 16 956058 1334508 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904871,nsv904872,nsv904925 M 6533 0 3 BAIAP3,C1QTNF8,CACNA1H,LMF1,LOC146336,SOX8,SSTR5,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I IS32737,IS33162,MS10123 esv1011363 16 962079 973667 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565275 S 3 0 1 LMF1,SOX8 HuRef nsv904877 16 965984 1010148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592826 S 6533 0 1 LMF1,SOX8 IS39258 esv24049 16 970736 972670 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15809 S 451 0 2 LMF1,SOX8 NA07045,NA12004 dgv2510n71 16 972777 1095026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904898,nsv904897,nsv904894,nsv904881 M 6533 0 6 C1QTNF8,LOC146336,SOX8,SSTR5 IS32918,IS33601,IS33665,IS34235,IS40396,MS10386 nsv904882 16 976641 1005434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546884 S 6533 0 1 SOX8 MS17208 dgv2511n71 16 976641 1165629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904883,nsv904890 M 6533 0 2 C1QTNF8,CACNA1H,LOC146336,SOX8,SSTR5 IS30197,MS10311 nsv827488 16 985803 986555 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437052,nssv1422971 M 31 2 0 "" NA18542,NA18552 nsv904886 16 986472 1013553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597332 S 6533 0 1 "" IS40799 dgv2512n71 16 986472 1049654 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904896,nsv904887,nsv904888,nsv904893 M 6533 0 4 "" IS32888,IS33178,IS34407,IS36876 nsv471067 16 987729 1210163 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545233,nssv545234,nssv545236,nssv545235 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1QTNF8,CACNA1H,LOC146336,SSTR5 HGDP00076,HGDP00462,HGDP00937,HGDP01218 nsv904892 16 989076 1050645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519141 S 6533 1 0 "" SP80957 nsv457320 16 990878 1032102 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534532 S 1557 0 1 "" 1780854441_A nsv904895 16 992944 1032102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546418 S 6533 0 1 "" MS17208 nsv1707 16 997495 1027569 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1288,nssv6653,nssv4186 M 9 3 0 "" NA12156,NA12878,NA19240 nsv457321 16 1010148 1043096 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534533 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01079 nsv904899 16 1013783 1045761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597703 S 6533 0 1 "" IS41243 nsv904900 16 1013783 1049654 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573323 S 6533 1 0 "" IS33263 nsv904901 16 1013783 1068407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569680,nssv1571934 M 6533 0 2 LOC146336,SSTR5 IS31656,IS32841 dgv2513n71 16 1013783 1095026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904902,nsv904903,nsv904906,nsv904905 M 6533 0 4 C1QTNF8,LOC146336,SSTR5 IS38144,IS38176,MS10126,SP54988 dgv2514n71 16 1013783 1270217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904904,nsv904910,nsv904909,nsv904919,nsv904911,nsv904922 M 6533 0 7 C1QTNF8,CACNA1H,LOC146336,SSTR5,TPSAB1,TPSB2,TPSD1,TPSG1 IS34057,IS39417,IS40230,IS41634,MS11726,MS17208,SP54956 esv1009853 16 1015223 1015455 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564615 S 3 1 0 "" HuRef esv27770 16 1015296 1015876 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12321 S 451 1 0 "" NA07045 nsv103539 16 1015454 1015525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122117 M 24 "" esv1378956 16 1015546 1015546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891663 S 2 1 0 "" HuRef dgv2515n71 16 1026770 1124968 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904907,nsv904916 M 6533 0 2 C1QTNF8,LOC146336,SSTR5 MS10698,MS17522 dgv2516n71 16 1026770 1187483 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904914,nsv904908 M 6533 0 2 C1QTNF8,CACNA1H,LOC146336,SSTR5 IS34304,IS39258 nsv457322 16 1028798 1050645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534534 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00715 esv21681 16 1030954 1031704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20558 S 451 0 1 "" NA19099 nsv904913 16 1032102 1066544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592326 S 6533 0 1 LOC146336,SSTR5 IS39233 dgv2517n71 16 1040777 1095026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904928,nsv904917,nsv904921,nsv904915,nsv904924 M 6533 0 6 C1QTNF8,LOC146336,SSTR5 IS30369,IS32888,IS33178,IS34005,IS38293,MS10204 dgv2518n71 16 1042702 1220123 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904929,nsv904931,nsv904930,nsv904936,nsv904933,nsv904934,nsv904918 M 6533 0 7 C1QTNF8,CACNA1H,LOC146336,SSTR5,TPSB2,TPSG1 IS33514,IS35007,IS38262,IS40297,MS11579,MS13770,MS19630 dgv2519n71 16 1045967 1075010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904920,nsv904926,nsv904923,nsv904927 M 6533 0 5 LOC146336,SSTR5 IS33776,IS40502,MS11467,MS12202,SP54043 nsv457323 16 1050645 1099732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534535 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1QTNF8,LOC146336,SSTR5 HGDP01223 nsv523609 16 1054259 1066544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699403 S 2026 0 1 LOC146336,SSTR5 nsv904932 16 1061227 1132214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592078 S 6533 0 1 C1QTNF8,LOC146336,SSTR5 IS39233 nsv9329 16 1064465 1066916 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22368 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC146336,SSTR5 NA18564 dgv2520n71 16 1071696 1289210 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904942,nsv904935 M 6533 0 2 C1QTNF8,CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1 IS38176,IS40799 nsv904937 16 1074819 1237072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590814 S 6533 1 0 C1QTNF8,CACNA1H,TPSAB1,TPSB2,TPSG1 IS38591 nsv827489 16 1075187 1077119 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435446 S 31 0 1 "" NA18942 esv1360970 16 1082998 1082998 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974220 S 2 1 0 C1QTNF8 HuRef esv1502742 16 1092807 1092807 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616019 S 2 1 0 "" HuRef nsv827490 16 1096853 1130606 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430447 S 31 0 1 "" NA18947 nsv9330 16 1099252 1130614 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22705 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv904938 16 1101811 1179811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508935 S 6533 0 1 CACNA1H SP54725 dgv2521n71 16 1101811 1210163 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv904939,nsv904943,nsv904940 M 6533 3 0 CACNA1H IS30814,IS33066,SP80957 dgv2522n71 16 1101811 1237072 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904941,nsv904951 M 6533 0 3 CACNA1H,TPSAB1,TPSB2,TPSG1 IS34005,IS34235,IS36170 nsv513441 16 1103780 1104892 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625843 S 1 1 0 "" 1 dgv2523n71 16 1110513 1218038 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904944,nsv904947,nsv904946 M 6533 0 3 CACNA1H,TPSG1 IS33601,SP54043,SP55021 dgv2524n71 16 1110513 1218038 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv904953,nsv904945 M 6533 3 8 CACNA1H,TPSG1 IS31656,IS32999,IS33665,IS36183,IS37825,IS38057,IS38538,IS38840,IS39464,MS11669,MS15835 nsv827491 16 1124938 1126443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430459 S 31 0 1 "" NA18947 nsv904948 16 1124968 1237072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574511 S 6533 1 0 CACNA1H,TPSAB1,TPSB2,TPSG1 IS33587 dgv2525n71 16 1124968 1461746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904952,nsv904961,nsv904949 M 6533 0 3 BAIAP3,C16orf42,C16orf91,CACNA1H,CCDC154,CLCN7,GNPTG,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I,UNKL IS33239,MS13770,SP54988 nsv904950 16 1124968 1533607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592327 S 6533 0 1 BAIAP3,C16orf42,C16orf91,CACNA1H,CCDC154,CLCN7,GNPTG,IFT140,PTX4,TELO2,TMEM204,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I,UNKL IS39233 nsv457326 16 1138939 1210163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534536 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA1H HGDP00656 nsv904954 16 1138939 1825633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530826 S 6533 0 1 BAIAP3,C16orf42,C16orf73,C16orf91,CACNA1H,CCDC154,CLCN7,CRAMP1L,EME2,FAHD1,GNPTG,HAGH,HN1L,IFT140,IGFALS,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,PTX4,SPSB3,TELO2,TMEM204,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I,UNKL MS10311 esv27714 16 1142595 1144127 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10405 S 451 0 1 CACNA1H NA18511 esv2037799 16 1163674 1164107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658928 S 1 0 1 CACNA1H NA18507 nsv904955 16 1165629 1273388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597720 S 6533 0 1 CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1 IS41243 esv25289 16 1174874 1176194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16445,esv13458 M 451 0 4 CACNA1H NA18508,NA18861,NA18916,NA19114 esv1586925 16 1175597 1175597 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675491 S 2 1 0 CACNA1H HuRef esv1352926 16 1175684 1175684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270786 S 2 1 0 CACNA1H HuRef esv1043406 16 1175759 1175759 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837647 S 2 1 0 CACNA1H HuRef esv25233 16 1180922 1181877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9820 S 451 0 4 CACNA1H NA12878,NA18907,NA18909,NA19108 nsv7274 16 1184372 1281102 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9520,nssv6654,nssv10074,nssv10073,nssv4188,nssv9310,nssv5581,nssv4187,nssv1289,nssv2128,nssv6655,nssv2127,nssv1290 M 9 0 0 CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1 NA12156,NA12878,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv904956 16 1187607 1237072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599203,nssv1573324,nssv1574972 M 6533 3 0 CACNA1H,TPSAB1,TPSB2,TPSG1 IS33263,IS33676,IS41433 nsv904957 16 1187607 1256226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572812 S 6533 0 1 CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1 IS33178 dgv2526n71 16 1189878 1213983 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904958,nsv904960,nsv904959 M 6533 0 3 CACNA1H,TPSG1 SP54684,SP54782,SP55992 nsv827492 16 1203838 1204275 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421641 S 31 1 0 CACNA1H NA18969 nsv833117 16 1207598 1308869 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452170,nssv1452169,nssv1452163,nssv1452165,nssv1452166,nssv1452161,nssv1452159,nssv1452162,nssv1452173,nssv1452167,nssv1452160,nssv1452168,nssv1452164,nssv1452154,nssv1452172,nssv1452157,nssv1452156,nssv1452158,nssv1452171,nssv1452155 M 95 0 20 CACNA1H,TPSAB1,TPSB2,TPSD1,TPSG1,UBE2I esv1000058 16 1213867 1247853 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563732 S 3 0 0 TPSAB1,TPSB2,TPSD1,TPSG1 HuRef esv29040 16 1215813 1245326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12783 S 451 0 2 TPSAB1,TPSB2 NA19108,NA19129 nsv1708 16 1218094 1253590 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5582 S 9 0 1 TPSAB1,TPSB2,TPSD1 NA19129 nsv103563 16 1221187 1221187 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122141 M 24 "" nsv499512 16 1221778 1244615 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585511 S 9 0 0 TPSAB1 esv1364928 16 1227125 1241677 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861808 S 2 0 0 TPSAB1 HuRef nsv499513 16 1227917 1239111 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585512 S 9 0 0 TPSAB1 nsv523308 16 1237146 1247677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699048 S 2026 0 1 TPSD1 nsv904962 16 1237146 1314819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590280,nssv1568901,nssv1596294 M 6533 3 0 TPSD1,UBE2I IS31372,IS38484,IS40487 nsv904963 16 1237146 1321715 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575742,nssv1584714 M 6533 1 1 TPSD1,UBE2I IS33797,IS37156 dgv2527n71 16 1237146 1541288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904964,nsv904967 M 6533 0 2 BAIAP3,C16orf42,C16orf91,CCDC154,CLCN7,GNPTG,IFT140,PTX4,TELO2,TMEM204,TPSD1,UBE2I,UNKL IS32322,IS33504 esv2216502 16 1238053 1238418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763079 S 1 0 1 "" NA18507 esv2760 16 1238148 1238373 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25201 S 1 0 1 Single Asian sample YH "" YH nsv103222 16 1239048 1246686 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121800 M 24 TPSD1 esv996737 16 1244888 1244955 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581529 S 3 0 1 "" HuRef nsv515770 16 1247677 1289930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679993,nssv680881,nssv673963,nssv664730,nssv689261,nssv666944 M 2026 0 6 TPSD1 esv26086 16 1250610 1296379 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18951 S 451 0 1 "" NA18508 esv1004275 16 1250690 1250690 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566984 S 3 1 0 "" HuRef esv1516575 16 1250763 1250763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333600 S 2 1 0 "" HuRef nsv457328 16 1251334 1289930 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534537 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01418 esv4765 16 1254637 1254897 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27206 S 1 0 1 Single Asian sample YH "" YH esv2609537 16 1255217 1255274 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310484 S 1 0 1 "" NA18507 dgv2528n71 16 1256226 1500112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904965,nsv904973,nsv904968,nsv904976,nsv904975,nsv904969,nsv904966,nsv904970,nsv904971,nsv904974 M 6533 0 11 BAIAP3,C16orf42,C16orf91,CCDC154,CLCN7,GNPTG,PTX4,TELO2,UBE2I,UNKL IS30369,IS32737,IS32841,IS34057,IS34304,IS35484,IS37172,MS10698,MS16315,MS17208,SP54956 nsv442389 16 1260595 1289926 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1153712 16 1265278 1265278 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151788 S 2 1 0 "" HuRef esv1674930 16 1275070 1275070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231337 S 2 1 0 "" HuRef dgv2529n71 16 1289930 1461746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904972,nsv904977 M 6533 0 3 BAIAP3,C16orf42,C16orf91,CCDC154,CLCN7,GNPTG,UBE2I,UNKL IS33601,IS39258,IS40230 esv2316971 16 1297783 1298243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613783 S 1 0 1 "" NA18507 esv2357222 16 1298233 1298619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969934 S 1 0 1 "" NA18507 esv22390 16 1299006 1300243 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18088 S 451 0 1 UBE2I NA12004 nsv103725 16 1307137 1311765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122303 M 24 UBE2I nsv904978 16 1321715 1391520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596393 S 6533 0 1 BAIAP3,C16orf42,GNPTG,UNKL IS40502 dgv2530n71 16 1340694 1454748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904983,nsv904981,nsv904979,nsv904984,nsv904985,nsv904988,nsv904987,nsv904992,nsv904982 M 6533 0 11 C16orf42,C16orf91,CCDC154,CLCN7,GNPTG,UNKL IS32918,IS33162,IS33455,IS34407,IS38403,IS39417,IS40396,IS41243,MS11237,MS11726,MS13727 dgv2531n71 16 1340694 1504824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904989,nsv904986,nsv904980 M 6533 0 3 C16orf42,C16orf91,CCDC154,CLCN7,GNPTG,IFT140,PTX4,TELO2,UNKL IS41410,MS10123,MS10386 nsv827493 16 1353126 1355890 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422972 S 31 1 0 GNPTG,UNKL NA18552 nsv904990 16 1357409 1381275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511507 S 6533 0 1 UNKL SP55021 esv2606593 16 1361976 1364197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191743 S 1 0 1 UNKL NA18507 nsv512419 16 1362767 1364370 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625011 S 1 0 1 UNKL 1 esv2914 16 1362790 1364310 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25355 S 1 0 1 Single Asian sample YH UNKL YH esv1002378 16 1362799 1364154 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586254 S 3 1 0 UNKL HuRef esv24901 16 1362799 1364154 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20985 S 451 14 0 UNKL NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18916,NA19108,NA19114,NA19190,NA19225,NA19240,NA19257 esv8940 16 1362802 1363757 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31381 S 1 0 1 UNKL SJK nsv819318 16 1363159 1363876 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418827,nssv1418849 M 2 0 1 UNKL AK1 nsv904991 16 1366588 1442858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597869 S 6533 0 1 C16orf91,CCDC154,CLCN7,UNKL IS41317 esv1007015 16 1387558 1387731 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577441 S 3 0 1 UNKL HuRef esv1006152 16 1387641 1388013 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565662 S 3 0 1 UNKL HuRef esv1590891 16 1387676 1387850 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220897 S 2 0 1 UNKL HuRef nsv457331 16 1391520 1439378 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534540 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf91,CCDC154,CLCN7,UNKL HGDP00579 nsv904993 16 1391520 1444150 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572047 S 6533 1 0 C16orf91,CCDC154,CLCN7,UNKL IS32843 nsv819844 16 1391520 1447989 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418829 S 2 1 0 C16orf91,CCDC154,CLCN7,UNKL AK1 nsv819259 16 1391520 1500112 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418852 S 2 1 0 C16orf91,CCDC154,CLCN7,PTX4,TELO2,UNKL AK1 dgv2532n71 16 1398848 1441376 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904996,nsv904994,nsv904995 M 6533 0 3 C16orf91,CCDC154,CLCN7,UNKL SP51109,SP54725,SP55021 dgv2533n71 16 1398848 1461746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv904997,nsv904998,nsv904999 M 6533 0 5 C16orf91,CCDC154,CLCN7,UNKL IS32888,IS33630,IS34235,IS36876,IS38293 dgv2534n71 16 1410450 1443880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905000,nsv905001,nsv905002 M 6533 0 3 C16orf91,CCDC154,CLCN7 SP50159,SP54782,SP55992 nsv817713 16 1416466 1450568 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417306 S 112 0 1 C16orf91,CCDC154,CLCN7 NA18608 nsv905003 16 1421021 1454748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573218 S 6533 0 1 CCDC154,CLCN7 IS33248 nsv905004 16 1421021 1495199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552787 S 6533 0 1 CCDC154,CLCN7,PTX4,TELO2 MS19630 nsv471068 16 1429261 1450568 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545237 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC154,CLCN7 HGDP01090 esv1010408 16 1439707 1439707 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580861 S 3 1 0 CLCN7 HuRef dgv2535n71 16 1447989 1495199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905006,nsv905005 M 6533 0 2 CLCN7,PTX4,TELO2 IS34235,IS38538 esv28902 16 1449296 1450561 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19603 S 451 0 2 CLCN7 NA19108,NA19129 esv1712114 16 1449505 1449820 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687822 S 2 0 1 CLCN7 HuRef nsv525102 16 1455163 1457729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701161 S 2026 0 1 CLCN7 nsv905007 16 1457729 1486444 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519143 S 6533 1 0 CLCN7,PTX4,TELO2 SP80957 nsv827494 16 1462062 1464239 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422973 S 31 1 0 CLCN7 NA18552 nsv827495 16 1462668 1463935 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437053 S 31 1 0 CLCN7 NA18542 nsv457332 16 1472838 1500112 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534541 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTX4,TELO2 HGDP00546 nsv905008 16 1472838 1504824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539738,nssv1576947 M 6533 0 2 IFT140,PTX4,TELO2 IS34304,MS14485 dgv2536n71 16 1472838 1541768 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905010,nsv905009,nsv905013,nsv905012,nsv905011,nsv905014 M 6533 0 8 IFT140,PTX4,TELO2,TMEM204 IS32737,IS38176,IS38403,IS40230,IS40799,MS10698,MS11726,MS16315 nsv905015 16 1484303 1556202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537138 S 6533 0 1 IFT140,TELO2,TMEM204 MS13095 dgv2537n71 16 1484303 1631107 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905019,nsv905016 M 6533 0 4 CRAMP1L,IFT140,TELO2,TMEM204 IS31045,IS33684,MS10769,MS16153 nsv905017 16 1484303 1825633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580912 S 6533 0 1 C16orf73,CRAMP1L,EME2,FAHD1,HAGH,HN1L,IFT140,IGFALS,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,SPSB3,TELO2,TMEM204 IS35484 nsv905018 16 1491083 1519152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514299 S 6533 0 1 IFT140,TELO2 SP55992 esv1008115 16 1497836 1497897 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575818 S 3 0 1 TELO2 HuRef nsv905020 16 1523635 1550886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519144 S 6533 1 0 IFT140,TMEM204 SP80957 nsv428317 16 1540718 1701583 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452892 S 62 1 0 CRAMP1L,HN1L,IFT140,MAPK8IP3,TMEM204 NA18916 nsv833118 16 1540718 1701583 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452175,nssv1452174 M 95 0 2 CRAMP1L,HN1L,IFT140,MAPK8IP3,TMEM204 nsv827496 16 1579779 1628335 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421752 S 31 1 0 CRAMP1L,IFT140 NA18969 nsv905021 16 1585746 1632903 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519145 S 6533 1 0 CRAMP1L,IFT140 SP80957 nsv827497 16 1608542 1609570 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437054 S 31 1 0 CRAMP1L NA18542 nsv518641 16 1635777 1825633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696091 S 2026 0 1 C16orf73,CRAMP1L,EME2,FAHD1,HAGH,HN1L,IGFALS,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,SPSB3 nsv457335 16 1719696 1779024 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534542 S 1557 0 1 EME2,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,SPSB3 1780854288_A dgv2538n71 16 1719696 1803521 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905025,nsv905022,nsv905024,nsv905026 M 6533 0 12 EME2,HAGH,IGFALS,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,SPSB3 IS30369,IS31294,IS31679,IS32841,IS33786,IS34005,IS36876,IS38846,IS39473,IS41410,MS11579,MS25304 nsv517196 16 1719696 1834962 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663797,nssv675432,nssv661836,nssv657135,nssv664381,nssv656208,nssv657714,nssv684568,nssv684046,nssv691450,nssv668951,nssv665265,nssv679379,nssv697764,nssv683074,nssv653697,nssv683888,nssv705572,nssv686762,nssv691978,nssv659498,nssv651814,nssv684352,nssv677941,nssv666751,nssv661603,nssv655361,nssv674874,nssv702662,nssv662076,nssv661536,nssv674587,nssv675307,nssv657000,nssv684524,nssv671048,nssv671049,nssv694600,nssv699767,nssv662404,nssv671518 M 2026 13 28 C16orf73,EME2,FAHD1,HAGH,IGFALS,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,SPSB3 nsv905023 16 1719696 1843652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519146 S 6533 1 0 C16orf73,EME2,FAHD1,HAGH,IGFALS,MAPK8IP3,MIR3177,MRPS34,NME3,NUBP2,SPSB3 SP80957 esv27589 16 1724085 1730700 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14600 S 451 0 4 MAPK8IP3,MIR3177 NA07045,NA12776,NA12828,NA18505 dgv2539n71 16 1728711 1879379 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905028,nsv905027 M 6533 0 5 C16orf73,EME2,FAHD1,HAGH,IGFALS,LINC00254,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 IS31563,IS31634,IS33605,IS35566,IS41113 dgv2540n71 16 1728711 2245540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905029,nsv905037 M 6533 0 2 C16orf73,C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,EME2,FAHD1,GFER,HAGH,HS3ST6,IGFALS,LINC00254,MAPK8IP3,MIR1225,MIR3180-5,MIR4516,MLST8,MRPS34,NDUFB10,NME3,NOXO1,NPW,NTHL1,NUBP2,PGP,PKD1,RAB26,RNF151,RNPS1,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SPSB3,SYNGR3,TBL3,TRAF7,TSC2,ZNF598 IS31045,IS33601 nsv457336 16 1742233 1781034 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534543 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EME2,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 HGDP00518 nsv827499 16 1742992 1748063 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437055 S 31 1 0 MAPK8IP3 NA18542 nsv905030 16 1744358 1764076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509364 S 6533 0 1 EME2,MAPK8IP3,MRPS34,NME3 SP54782 nsv471069 16 1744358 1781034 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545240,nssv545243,nssv545238,nssv545245,nssv545241,nssv545239,nssv545244 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EME2,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 HGDP00865,HGDP00883,HGDP00894,HGDP00895,HGDP00951,HGDP00962,HGDP01397 dgv2541n71 16 1744358 1791827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905041,nsv905032 M 6533 0 3 EME2,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 SP54043,SP54988,SP55992 nsv905031 16 1744358 1794541 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571540,nssv1535924,nssv1572678,nssv1569845,nssv1595418,nssv1544306,nssv1591828,nssv1581470,nssv1588850 M 6533 1 8 EME2,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 IS31728,IS32737,IS33162,IS35581,IS38262,IS39046,IS40230,MS12545,MS16315 dgv2542n71 16 1744358 1803521 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905033,nsv905036 M 6533 0 3 EME2,HAGH,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 IS30562,MS14359,MS23531 nsv905034 16 1744358 1825633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589109,nssv1600532,nssv1574806,nssv1538696 M 6533 0 4 C16orf73,EME2,FAHD1,HAGH,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 IS33630,IS38293,IS41894,MS13770 nsv827500 16 1751260 1785128 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433256 S 31 1 0 EME2,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 NA18972 dgv2543n71 16 1751650 1784562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905040,nsv905038,nsv905035 M 6533 0 3 EME2,IGFALS,MAPK8IP3,MRPS34,NME3,NUBP2,SPSB3 SP54672,SP54956,SP55021 nsv905039 16 1752973 1762160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511242 S 6533 0 1 MAPK8IP3,MRPS34,NME3 SP55019 nsv905042 16 1779024 1841212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575848 S 6533 0 1 C16orf73,FAHD1,HAGH,IGFALS,NUBP2 IS33830 nsv482185 16 1780422 1783710 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558546 S 1 1 0 IGFALS KB1 nsv457337 16 1803521 1845007 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534544 S 1557 0 1 C16orf73,FAHD1,HAGH 1782681169_A nsv905043 16 1803521 1879379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578051 S 6533 0 1 C16orf73,FAHD1,HAGH,LINC00254 IS34648 dgv335n27 16 1807041 1887017 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457338,nsv457339 M 1557 2 0 C16orf73,FAHD1,HAGH,LINC00254 HGDP00102,HGDP00105 esv33055 16 1821189 1822881 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95591 S 51 0 1 FAHD1 21841 nsv833119 16 1824310 1901486 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452177,nssv1452178,nssv1452179,nssv1452176 M 95 0 4 C16orf73,FAHD1,HS3ST6,LINC00254 nsv905044 16 1829715 1860679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514709 S 6533 0 1 C16orf73,FAHD1 SP56047 nsv519366 16 1841212 1951127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696813 S 2026 0 1 C16orf73,HS3ST6,LINC00254,NDUFB10,RPL3L,SEPX1 nsv525861 16 1843652 1848257 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702057 S 2026 0 1 C16orf73 dgv2544n71 16 1852022 2245540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905051,nsv905046,nsv905050,nsv905049,nsv905045 M 6533 0 8 C16orf73,C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,GFER,HS3ST6,LINC00254,MIR1225,MIR3180-5,MIR4516,MLST8,NDUFB10,NOXO1,NPW,NTHL1,PGP,PKD1,RAB26,RNF151,RNPS1,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SYNGR3,TBL3,TRAF7,TSC2,ZNF598 IS32322,IS32737,IS33248,IS34057,IS35484,IS37646,IS39417,MS17208 dgv2545n71 16 1852022 2719237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905052,nsv905047 M 6533 0 2 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,C16orf73,C16orf79,CASKIN1,CCNF,CEMP1,DNASE1L2,E4F1,ECI1,FLJ42627,GFER,HS3ST6,KCTD5,LINC00254,LOC100507321,LOC652276,MIR1225,MIR3178,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,NDUFB10,NOXO1,NPW,NTHL1,NTN3,PDPK1,PGP,PKD1,PRSS27,RAB26,RNF151,RNPS1,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SYNGR3,TBC1D24,TBL3,TRAF7,TSC2,ZNF598 IS33504,MS10311 esv1009942 16 1858402 1862761 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564533 S 3 1 0 C16orf73 HuRef esv1701785 16 1861897 1861897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644126 S 2 1 0 C16orf73 HuRef nsv513442 16 1878672 1878963 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625844 S 1 1 0 "" 1 nsv833120 16 1883104 1970662 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452197,nssv1452184,nssv1452183,nssv1452182,nssv1452181,nssv1452180,nssv1452196,nssv1452185,nssv1452195,nssv1452190,nssv1452188,nssv1452194,nssv1452192,nssv1452186,nssv1452187,nssv1452201,nssv1452205,nssv1452198,nssv1452200,nssv1452199,nssv1452204,nssv1452202,nssv1452203,nssv1452206,nssv1452208,nssv1452207,nssv1452191,nssv1452193,nssv1452189 M 95 0 29 HS3ST6,NDUFB10,NOXO1,RNF151,RPL3L,RPS2,SEPX1,SNHG9,SNORA10,SNORA64,SNORA78,TBL3 nsv905048 16 1887017 2045056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599137 S 6533 0 1 GFER,HS3ST6,NDUFB10,NOXO1,NPW,NTHL1,RNF151,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,TSC2,ZNF598 IS41410 nsv905053 16 1894800 1939675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519147 S 6533 1 0 HS3ST6,RPL3L,SEPX1 SP80957 nsv103288 16 1906151 1906151 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121866 M 24 HS3ST6 dgv2546n71 16 1912817 2298761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905097,nsv905068,nsv905090,nsv905054 M 6533 0 4 ABCA3,C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,GFER,MIR1225,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,NDUFB10,NOXO1,NPW,NTHL1,PGP,PKD1,RAB26,RNF151,RNPS1,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SYNGR3,TBL3,TRAF7,TSC2,ZNF598 IS40230,MS13770,MS18276,SP54956 esv33841 16 1918183 1923083 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100990,essv93171,essv99011,essv93582 M 51 4 0 "" 21693,21863,21938,22128 nsv905055 16 1920269 1939675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511843 S 6533 0 1 RPL3L,SEPX1 SP55125 dgv2547n71 16 1927059 2055820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905058,nsv905066,nsv905056,nsv905064,nsv905069,nsv905065,nsv905074 M 6533 0 9 GFER,NDUFB10,NOXO1,NPW,NTHL1,RNF151,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,TSC2,ZNF598 IS33239,IS33514,IS40396,MS10386,MS10698,MS13011,MS15835,MS17522,MS17825 dgv2548n71 16 1927059 2055820 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905057,nsv905075 M 6533 2 0 GFER,NDUFB10,NOXO1,NPW,NTHL1,RNF151,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,TSC2,ZNF598 IS33263,IS34124 dgv2549n71 16 1927059 2184532 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905059,nsv905067,nsv905080,nsv905072 M 6533 0 7 CASKIN1,GFER,MIR1225,MIR3180-5,MIR4516,NDUFB10,NOXO1,NPW,NTHL1,PKD1,RAB26,RNF151,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SYNGR3,TBL3,TRAF7,TSC2,ZNF598 IS31656,IS33178,IS34304,IS39258,MS11306,MS16153,MS16315 dgv2550n71 16 1927059 2253344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905093,nsv905099,nsv905098,nsv905073,nsv905096,nsv905060,nsv905089 M 6533 0 7 C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,GFER,MIR1225,MIR3180-5,MIR4516,MLST8,NDUFB10,NOXO1,NPW,NTHL1,PGP,PKD1,RAB26,RNF151,RNPS1,RPL3L,RPS2,SEPX1,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SNORD60,SYNGR3,TBL3,TRAF7,TSC2,ZNF598 IS32841,IS33162,IS33684,IS33797,IS37172,MS10769,MS13095 nsv905061 16 1937615 1988797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575587 S 6533 0 1 GFER,NDUFB10,NOXO1,RNF151,RPL3L,RPS2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,ZNF598 IS33776 dgv2551n71 16 1937615 2013121 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905062,nsv905063 M 6533 0 2 GFER,NDUFB10,NOXO1,NPW,RNF151,RPL3L,RPS2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,ZNF598 IS39363,IS40297 nsv471070 16 1937615 2014220 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545247,nssv545246 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GFER,NDUFB10,NOXO1,NPW,RNF151,RPL3L,RPS2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,ZNF598 HGDP00566,HGDP01286 esv1003583 16 1938214 1949037 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565731 S 3 0 1 RPL3L HuRef nsv905070 16 1951127 2009168 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585196,nssv1589767,nssv1580371 M 6533 2 1 GFER,NDUFB10,NOXO1,RNF151,RPS2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,ZNF598 IS35280,IS37337,IS38403 dgv2552n71 16 1951127 2045056 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905071,nsv905079 M 6533 10 3 GFER,NDUFB10,NOXO1,NPW,NTHL1,RNF151,RPS2,SLC9A3R2,SNHG9,SNORA10,SNORA64,SNORA78,SYNGR3,TBL3,TSC2,ZNF598 IS30369,IS30814,IS30934,IS32918,IS33070,IS33759,IS33857,IS34912,IS35007,IS35581,IS37825,IS38591,IS40947 dgv336n27 16 1955122 2028586 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457344,nsv457345 M 1557 0 2 GFER,NOXO1,NPW,RNF151,SLC9A3R2,SNHG9,SNORA78,SYNGR3,TBL3,ZNF598 HGDP00433,HGDP00607 nsv905076 16 1955433 1970332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501107 S 6533 1 0 NOXO1,RNF151,SNHG9,TBL3 SP50985 dgv2553n71 16 1955433 2025296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905077,nsv905078,nsv905088,nsv905085,nsv905084 M 6533 0 10 GFER,NOXO1,NPW,RNF151,SLC9A3R2,SNHG9,SYNGR3,TBL3,ZNF598 IS33340,IS39320,IS40449,IS40828,MS10393,MS21868,MS22611,SP54043,SP54672,SP54725 nsv521569 16 1961894 2025998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698185 S 2026 0 1 GFER,NOXO1,NPW,SLC9A3R2,SYNGR3,TBL3,ZNF598 nsv523037 16 1961894 2073902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698720 S 2026 0 1 GFER,NOXO1,NPW,NTHL1,SLC9A3R2,SYNGR3,TBL3,TSC2,ZNF598 nsv471072 16 1961894 2307510 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545251,nssv545252,nssv545250,nssv545248,nssv545255,nssv545249 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA3,C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,GFER,MIR1225,MIR3180-5,MIR3677,MIR4516,MIR4717,MIR940,MLST8,NOXO1,NPW,NTHL1,PGP,PKD1,RAB26,RNPS1,SLC9A3R2,SNORD60,SYNGR3,TBL3,TRAF7,TSC2,ZNF598 HGDP00290,HGDP00298,HGDP00313,HGDP00328,HGDP00702,HGDP00825 dgv2554n71 16 1962075 1987812 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905087,nsv905081,nsv905086,nsv905083 M 6533 0 5 GFER,NOXO1,SYNGR3,TBL3,ZNF598 SP51109,SP54593,SP54684,SP54988,SP55021 nsv905082 16 1965412 1977109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519349 S 6533 0 1 GFER,NOXO1,TBL3 SP81010 nsv905091 16 1972409 1988797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508544 S 6533 0 1 GFER,SYNGR3,ZNF598 SP54657 dgv2555n71 16 1981493 2045056 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905100,nsv905092 M 6533 4 4 NPW,NTHL1,SLC9A3R2,SYNGR3,TSC2,ZNF598 IS31800,IS32998,IS32999,IS33663,IS34005,IS34235,IS38293,MS14485 nsv827501 16 1984062 1987548 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435447 S 31 0 1 SYNGR3 NA18942 dgv455n67 16 1984062 1988772 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827503,nsv827502 M 31 2 0 SYNGR3,ZNF598 NA18542,NA18969 nsv905094 16 1985732 2025296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576386,nssv1577844 M 6533 2 0 NPW,SLC9A3R2,ZNF598 IS34051,IS34582 nsv905095 16 1985732 2045056 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599204 S 6533 1 0 NPW,NTHL1,SLC9A3R2,TSC2,ZNF598 IS41433 nsv457348 16 1994156 2027563 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534550 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NPW,SLC9A3R2,ZNF598 HGDP00626 nsv905101 16 1994156 2055820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600533 S 6533 0 1 NPW,NTHL1,SLC9A3R2,TSC2,ZNF598 IS41894 nsv905102 16 1994156 2131735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597335 S 6533 0 1 MIR1225,MIR3180-5,MIR4516,NPW,NTHL1,PKD1,SLC9A3R2,TSC2,ZNF598 IS40799 dgv2556n71 16 1994156 2203147 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905109,nsv905107,nsv905104,nsv905103 M 6533 0 4 C16orf79,CASKIN1,MIR1225,MIR3180-5,MIR4516,MLST8,NPW,NTHL1,PGP,PKD1,RAB26,SLC9A3R2,SNORD60,TRAF7,TSC2,ZNF598 IS38176,IS39233,MS10123,MS13727 nsv905105 16 1997124 2024115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508862 S 6533 0 1 NPW,SLC9A3R2,ZNF598 SP54657 dgv2557n71 16 2013121 2253344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905111,nsv905108,nsv905106,nsv905110 M 6533 0 4 C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,MIR1225,MIR3180-5,MIR4516,MLST8,NTHL1,PGP,PKD1,RAB26,RNPS1,SLC9A3R2,SNORD60,TRAF7,TSC2 IS33455,IS41243,MS11237,SP54988 nsv522978 16 2025296 2025998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698648 S 2026 0 1 SLC9A3R2 nsv827504 16 2038602 2041177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435448 S 31 0 1 TSC2 NA18942 nsv457349 16 2045056 2190732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534551 S 1557 0 1 CASKIN1,MIR1225,MIR3180-5,MIR4516,PKD1,RAB26,SNORD60,TRAF7,TSC2 1780862197_A dgv2558n71 16 2056819 2213851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905112,nsv905116,nsv905117 M 6533 0 4 C16orf79,CASKIN1,E4F1,MIR1225,MIR3180-5,MIR4516,MLST8,PGP,PKD1,RAB26,SNORD60,TRAF7,TSC2 SP51109,SP54043,SP54725,SP55021 nsv905113 16 2060403 2082354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514301 S 6533 0 1 MIR1225,PKD1,TSC2 SP55992 dgv2559n71 16 2074995 2085130 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905115,nsv905114 M 6533 0 8 MIR1225,PKD1,TSC2 SP54225,SP54593,SP54750,SP54776,SP54937,SP54967,SP55019,SP55056 dgv2560n71 16 2078270 2085788 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905118,nsv905122,nsv905120 M 6533 0 4 MIR1225,PKD1,TSC2 SP50159,SP54042,SP54684,SP56223 dgv2561n71 16 2078270 2120723 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905119,nsv905121 M 6533 0 2 MIR1225,PKD1,TSC2 SP54672,SP54782 nsv471381 16 2078712 2125900 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548116,nssv548118,nssv548117 M 3 MIR1225,MIR4516,PKD1,TSC2 nsv482186 16 2078712 2125900 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558547 S 1 1 0 MIR1225,MIR4516,PKD1,TSC2 KB1 esv26918 16 2081144 2113137 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20253,esv17808,esv18052 M 451 8 1 PKD1 NA06985,NA07045,NA12239,NA12749,NA18502,NA18511,NA18909,NA19099,NA19114 nsv827505 16 2084449 2130474 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422085 S 31 1 0 MIR3180-5,MIR4516,PKD1 NA18969 nsv827506 16 2084875 2086833 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439302 S 31 1 0 PKD1 NA18973 nsv820654 16 2087426 2113137 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421159 S 1 0 1 PKD1 NA10851 esv1009851 16 2087486 2110716 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586215 S 3 0 1 PKD1 HuRef nsv499604 16 2094923 2095024 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586271 S 9 1 0 PKD1 nsv9331 16 2103685 2118476 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22594 S 31 1 0 Samples from several populations that are part of the HapMap project. PKD1 NA10839 nsv1709 16 2104726 2111251 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2945 S 9 1 0 PKD1 NA18555 nsv827507 16 2111288 2131054 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422976 S 31 1 0 MIR3180-5,MIR4516,PKD1 NA18552 nsv9332 16 2118476 2128741 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25661,nssv25576,nssv22734,nssv22396 M 31 0 4 Samples from several populations that are part of the HapMap project. MIR3180-5,MIR4516,PKD1 NA18517,NA18552,NA18972,NA19007 dgv2562n71 16 2120723 2214301 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905123,nsv905130 M 6533 0 4 C16orf79,CASKIN1,E4F1,MIR3180-5,MIR4516,MLST8,PGP,PKD1,RAB26,SNORD60,TRAF7 IS32894,IS34458,IS40449,SP57469 dgv2563n71 16 2120723 2253344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905125,nsv905126,nsv905124 M 6533 0 6 C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,MIR3180-5,MIR4516,MLST8,PGP,PKD1,RAB26,RNPS1,SNORD60,TRAF7 IS30369,IS33239,IS38144,IS38538,IS40297,IS40828 esv26637 16 2121863 2127423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13392 S 451 0 1 MIR3180-5,MIR4516,PKD1 NA19190 nsv905127 16 2124841 2148890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511244 S 6533 0 1 MIR3180-5,PKD1,RAB26,SNORD60,TRAF7 SP55019 dgv2564n71 16 2129131 2144836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905128,nsv905129 M 6533 0 3 RAB26 SP54593,SP54937,SP54967 nsv905131 16 2136779 2188787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505883 S 6533 0 1 CASKIN1,RAB26,SNORD60,TRAF7 SP54042 nsv457351 16 2146592 2264304 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534552 S 1557 0 1 C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,MIR3677,MIR940,MLST8,PGP,RNPS1,TRAF7 1780862347_A esv25100 16 2154311 2156086 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11483 S 451 0 1 TRAF7 NA12878 nsv905132 16 2155479 2253344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586825 S 6533 0 1 C16orf79,CASKIN1,DNASE1L2,E4F1,ECI1,MLST8,PGP,RNPS1,TRAF7 IS37985 dgv456n67 16 2165297 2171917 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827508,nsv827510 M 31 2 0 CASKIN1,TRAF7 NA18526,NA18972 dgv2565n71 16 2165824 2210114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905133,nsv905134 M 6533 0 3 C16orf79,CASKIN1,MLST8,PGP,TRAF7 SP54591,SP54593,SP81010 nsv827511 16 2167745 2168226 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437784 S 31 1 0 CASKIN1,TRAF7 NA18949 dgv2566n71 16 2173566 2210114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905137,nsv905136,nsv905135 M 6533 0 3 C16orf79,CASKIN1,MLST8,PGP SP54657,SP55056,SP56047 nsv1711 16 2189095 2222652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2946 S 9 1 0 C16orf79,E4F1,MLST8,PGP NA18555 nsv905138 16 2196327 2210114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511245 S 6533 0 1 C16orf79,MLST8,PGP SP55019 nsv905139 16 2203147 2719237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570800 S 6533 0 1 ABCA17P,ABCA3,AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,DNASE1L2,E4F1,ECI1,FLJ42627,KCTD5,LOC100507321,LOC652276,MIR3178,MIR3677,MIR4717,MIR940,NTN3,PDPK1,PGP,PRSS27,RNPS1,TBC1D24 IS32322 dgv2567n71 16 2214301 2298761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905140,nsv905141 M 6533 0 2 ABCA3,DNASE1L2,E4F1,ECI1,MIR3677,MIR4717,MIR940,RNPS1 IS37646,MS16153 nsv905142 16 2220278 2244339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507813 S 6533 0 1 DNASE1L2,E4F1,ECI1,RNPS1 SP54725 nsv457353 16 2245540 2355931 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534554 S 1557 0 1 ABCA17P,ABCA3,MIR3677,MIR4717,MIR940,RNPS1 1782681114_A dgv2568n71 16 2257144 2297916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905145,nsv905143 M 6533 0 2 ABCA3,MIR3677,MIR4717,MIR940,RNPS1 SP50159,SP54782 nsv905144 16 2257144 2313787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519148 S 6533 1 0 ABCA3,MIR3677,MIR4717,MIR940,RNPS1 SP80957 nsv103340 16 2260904 2260904 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121918 M 24 "" esv4221 16 2287877 2288329 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26662 S 1 0 1 Single Asian sample YH ABCA3 YH esv6856 16 2287938 2288193 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29297 S 1 0 1 ABCA3 SJK nsv827512 16 2329665 2332657 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433258 S 31 1 0 ABCA17P,ABCA3 NA18972 nsv833121 16 2350977 2508230 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452210,nssv1452209 M 95 0 2 ABCA17P,ATP6V0C,C16orf59,CCNF,NTN3,TBC1D24 esv272992 16 2352338 2352706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580242,essv2580474 M 7 2 0 Samples from several populations that are part of the HapMap project. ABCA17P NA12878,NA12891 dgv2569n71 16 2386022 2582139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905146,nsv905148 M 6533 0 2 ABCA17P,AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,MIR3178,NTN3,PDPK1,TBC1D24 IS34235,SP54956 dgv2570n71 16 2386022 2752940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905151,nsv905150,nsv905147 M 6533 0 4 ABCA17P,AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,FLJ42627,KCTD5,LOC100128788,LOC100507321,LOC652276,MIR3178,NTN3,PDPK1,PRSS27,SRRM2,TBC1D24 IS33684,IS37646,MS16153,MS18276 nsv905149 16 2411583 2645524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592329 S 6533 0 1 ABCA17P,AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,FLJ42627,LOC652276,MIR3178,NTN3,PDPK1,TBC1D24 IS39233 nsv905152 16 2424784 2932115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546888 S 6533 0 1 AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,FLJ42627,FLYWCH1,FLYWCH2,KCTD5,LOC100128788,LOC100507321,LOC652276,MIR3178,NTN3,PDPK1,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,SRRM2,TBC1D24,TCEB2,ZG16B MS17208 nsv905153 16 2446307 2535304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510919 S 6533 0 1 AMDHD2,ATP6V0C,C16orf59,CCNF,CEMP1,MIR3178,NTN3,PDPK1,TBC1D24 SP54988 nsv827513 16 2447674 2452462 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422196 S 31 1 0 C16orf59,CCNF NA18969 esv29545 16 2461158 2465957 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15013 S 451 0 1 NTN3,TBC1D24 NA07045 dgv793e1 16 2476826 2810537 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7533,essv20057,essv20934,esv393,essv7320,essv23074,essv19898 M 271 0 0 AMDHD2,ATP6V0C,CEMP1,FLJ42627,KCTD5,LOC100128788,LOC100507321,LOC652276,MIR3178,PDPK1,PRSS21,PRSS27,PRSS33,PRSS41,SRRM2,TBC1D24,TCEB2 NA07048,NA12801,NA12812,NA12813,NA18545,NA18570 nsv833122 16 2491719 2653939 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452214,nssv1452213,nssv1452219,nssv1452211,nssv1452212,nssv1452218,nssv1452216,nssv1452215,nssv1452217 M 95 0 9 AMDHD2,ATP6V0C,CEMP1,FLJ42627,LOC100507321,LOC652276,MIR3178,PDPK1,TBC1D24 nsv827514 16 2493023 2496990 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435449 S 31 0 1 TBC1D24 NA18942 dgv457n67 16 2493175 2497015 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827515,nsv827517 M 31 2 0 TBC1D24 NA18552,NA18969 nsv827516 16 2493187 2495740 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437786 S 31 1 0 TBC1D24 NA18949 dgv2571n71 16 2500162 2535304 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905156,nsv905155,nsv905154 M 6533 0 4 AMDHD2,ATP6V0C,CEMP1,MIR3178,PDPK1 SP51109,SP54043,SP54725,SP55021 nsv7275 16 2526474 2670331 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9521,nssv2129,nssv4190 M 9 0 0 FLJ42627,LOC100507321,LOC652276,PDPK1 NA12878,NA18507,NA18555 esv22359 16 2528458 2575015 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19866 S 451 1 0 PDPK1 NA12776 nsv833123 16 2551249 2754990 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452238,nssv1452239,nssv1452242,nssv1452241,nssv1452220,nssv1452237,nssv1452240,nssv1452227,nssv1452222,nssv1452221,nssv1452236,nssv1452224,nssv1452223,nssv1452226,nssv1452225,nssv1452228,nssv1452235,nssv1452231,nssv1452230,nssv1452229,nssv1452234,nssv1452233,nssv1452232 M 95 1 22 FLJ42627,KCTD5,LOC100128788,LOC100507321,LOC652276,PDPK1,PRSS27,SRRM2 nsv9333 16 2570428 2573967 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22053 S 31 0 1 Samples from several populations that are part of the HapMap project. PDPK1 NA07048 esv33514 16 2589045 2677262 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101148,essv101235,essv93829,essv100934,essv101059,essv95138,essv94831,essv94338,essv95258,essv95260,essv101713,essv95823,essv94577,essv98945,essv92964,essv92678,essv92745,essv96583,essv97221,essv95942,essv95946,essv99683,essv94964,essv92612,essv92604,essv97684,essv100166,essv100403,essv98525 M 51 12 13 FLJ42627,KCTD5,LOC100507321,LOC652276,PDPK1 21618,21634,21693,21721,21791,21808,21872,21909,21911,21932,21938,21939,21944,22011,22075,22127,22217,22231,22233,22278,22286,22300,22352 esv29849 16 2589819 2676116 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15593,esv14324 M 451 1 9 FLJ42627,KCTD5,LOC100507321,LOC652276,PDPK1 NA11894,NA11931,NA11993,NA12006,NA12044,NA12239,NA12489,NA12776,NA18502,NA18505 esv8446 16 2591655 2670092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30887 S 1 0 1 FLJ42627,LOC100507321,LOC652276,PDPK1 SJK nsv510672 16 2592901 2636476 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617424 S 4 0 1 FLJ42627,LOC652276,PDPK1 CHM nsv827518 16 2595573 2680120 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434726 S 31 1 0 FLJ42627,KCTD5,LOC100507321,LOC652276 NA18570 nsv9334 16 2598958 2609759 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22113 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC652276 NA07048 nsv827519 16 2605219 2639998 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430943 S 31 1 0 FLJ42627,LOC652276 AK16 esv2421848 16 2619669 2681813 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064301,essv5026644,essv5034914,essv5059540,essv5148947,essv5071820,essv5042964,essv5017929,essv5058143,essv5142982,essv5061297,essv5054652,essv5029108,essv5081138,essv5148479,essv5009424,essv5101867,essv5140288,essv5159460,essv5080868,essv5039593,essv5050875,essv5125333,essv5155308,essv5148301,essv5106258,essv5153216,essv5092901,essv5132337,essv5023823,essv5149961,essv5043132,essv5080199,essv5029026,essv5079089,essv5109581,essv5114754,essv5025389,essv5077342,essv5151820,essv5039290,essv5047277,essv5123575,essv5027335,essv5057501,essv5121694,essv5089009,essv5132484,essv5018060,essv5026347,essv5020044,essv5079566,essv5086906,essv5033639,essv5110401,essv5018453,essv5038693,essv5059854,essv5099293,essv5080155,essv5110440,essv5044216,essv5012231,essv5148714,essv5011292,essv5107202,essv5025765,essv5078651,essv5090947,essv5028542,essv5152876,essv5103512,essv5098200,essv5114630,essv5124257,essv5128484,essv5082025,essv5094102,essv5073387,essv5079065,essv5045616,essv5154366,essv5044496,essv5054052,essv5045417,essv5138475,essv5109395,essv5156070,essv5086045,essv5017084,essv5042351,essv5037476,essv5056197,essv5104420,essv5095964,essv5042638,essv5094788,essv5146355,essv5153996,essv5044740,essv5152202,essv5156817,essv5113370,essv5075526,essv5139636,essv5073702,essv5030628,essv5036870,essv5107868,essv5111191,essv5138938,essv5025764,essv5091700,essv5122580,essv5022621,essv5023411,essv5032289,essv5148751,essv5101600,essv5069495,essv5115566,essv5145959,essv5147366,essv5083629,essv5159234,essv5093305,essv5102861,essv5093455,essv5039416,essv5132180,essv5116443,essv5063554,essv5089020,essv5004879,essv5157531,essv5139796,essv5117450,essv5020599,essv5006142,essv5041447,essv5064167,essv5157865,essv5153895,essv5027903,essv5006792,essv5063757,essv5124411,essv5073479,essv5130516,essv5100404,essv5159225,essv5155348,essv5107856,essv5091412,essv5072766,essv5062959,essv5153494,essv5075883,essv5003789,essv5031329,essv5150710,essv5149506,essv5133897,essv5122233,essv5051551,essv5075281,essv5003294,essv5091330,essv5036348,essv5048792,essv5148101,essv5094578,essv5154798,essv5133775,essv5138810,essv5024166,essv5021383,essv5027181,essv5067709,essv5084445,essv5026863,essv5112368,essv5073775,essv5082289,essv5142380,essv5105508,essv5118749,essv5099158,essv5107992,essv5071121,essv5081185,essv5013059,essv5156804,essv5160343,essv5123465,essv5035204,essv5095361,essv5036345,essv5022706,essv5014517,essv5156899,essv5129047,essv5112179,essv5099508,essv5064022,essv5042610,essv5048217,essv5009265,essv5079227,essv5029704,essv5054985 M 1184 211 0 FLJ42627,KCTD5,LOC100507321,LOC652276 NA07000,NA07055,NA07347,NA07349,NA07357,NA10836,NA10837,NA10850,NA10864,NA10865,NA11829,NA11891,NA11894,NA11917,NA11931,NA11992,NA11993,NA12006,NA12044,NA12144,NA12145,NA12155,NA12239,NA12249,NA12272,NA12273,NA12275,NA12282,NA12335,NA12336,NA12340,NA12343,NA12375,NA12376,NA12718,NA12763,NA12777,NA12778,NA12815,NA12842,NA12843,NA17995,NA17999,NA18127,NA18139,NA18166,NA18486,NA18503,NA18505,NA18548,NA18615,NA18696,NA18949,NA18951,NA18961,NA18969,NA18970,NA18977,NA19002,NA19059,NA19063,NA19068,NA19078,NA19087,NA19093,NA19199,NA19247,NA19319,NA19334,NA19380,NA19448,NA19462,NA19467,NA19471,NA19625,NA19649,NA19651,NA19652,NA19656,NA19661,NA19669,NA19671,NA19675,NA19677,NA19679,NA19680,NA19682,NA19683,NA19708,NA19716,NA19718,NA19722,NA19724,NA19746,NA19747,NA19748,NA19756,NA19759,NA19760,NA19771,NA19782,NA19784,NA19789,NA19794,NA19795,NA19796,NA19916,NA19918,NA19921,NA20302,NA20334,NA20335,NA20356,NA20358,NA20359,NA20360,NA20502,NA20510,NA20516,NA20520,NA20527,NA20528,NA20531,NA20534,NA20535,NA20538,NA20544,NA20586,NA20589,NA20752,NA20760,NA20761,NA20765,NA20768,NA20769,NA20771,NA20778,NA20783,NA20790,NA20792,NA20795,NA20799,NA20800,NA20809,NA20810,NA20818,NA20828,NA20850,NA20852,NA20853,NA20856,NA20873,NA20874,NA20875,NA20879,NA20881,NA20890,NA20895,NA20897,NA20898,NA20899,NA20902,NA20908,NA20911,NA21088,NA21089,NA21104,NA21109,NA21115,NA21141,NA21295,NA21302,NA21303,NA21308,NA21339,NA21352,NA21353,NA21356,NA21357,NA21364,NA21368,NA21389,NA21424,NA21434,NA21438,NA21454,NA21455,NA21473,NA21475,NA21477,NA21485,NA21487,NA21490,NA21491,NA21523,NA21524,NA21525,NA21526,NA21574,NA21575,NA21582,NA21583,NA21635,NA21636,NA21716,NA21717,NA21733,NA21738,NA21776,NA21784,NA21826 nsv905157 16 2620478 2687617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502781 S 6533 1 0 FLJ42627,KCTD5,LOC100507321,LOC652276 SP51411 nsv905158 16 2634502 2719237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569683 S 6533 0 1 FLJ42627,KCTD5,LOC100507321,PRSS27 IS31656 nsv9335 16 2637783 2640624 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22143,nssv26257,nssv20812,nssv21876,nssv23957,nssv20110 M 31 2 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA12155,NA12802,NA18502,NA18942 dgv56e180 16 2638330 2639998 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989292,esv1005772 M 3 0 1 "" HuRef nsv827521 16 2638330 2639998 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427875,nssv1437787,nssv1438466 M 31 0 3 "" AK8,NA18949,NA18951 esv2421869 16 2638870 2645417 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005163,essv5041745,essv5140589,essv5115105,essv5067977,essv5070135,essv5090575,essv5104534,essv5134376,essv5008685,essv5028306,essv5117376,essv5106131,essv5052129,essv5024750,essv5160315,essv5093789,essv5145063,essv5106594,essv5035083,essv5014936,essv5027236,essv5063555,essv5118028,essv5072301,essv5120021,essv5142185,essv5090274,essv5003137,essv5084477,essv5008978,essv5146119,essv5124517,essv5018021,essv5135945,essv5066264,essv5053265,essv5098371,essv5019692,essv5040052,essv5076682,essv5025848,essv5096203,essv5130181,essv5121891,essv5144684,essv5105932,essv5071468,essv5034449,essv5069213,essv5046933,essv5004569,essv5100651,essv5007983,essv5143831,essv5080186,essv5004605,essv5042079,essv5016258,essv5037619,essv5126093,essv5113185,essv5157381,essv5069295,essv5046168,essv5073010,essv5108971,essv5014616,essv5043946,essv5030464,essv5027479,essv5018419,essv5143653,essv5029196,essv5135801,essv5143828,essv5108489,essv5143251,essv5047316,essv5050122,essv5024932,essv5031735,essv5136631,essv5030698,essv5161023,essv5033255,essv5124091,essv5093256,essv5126651,essv5081791,essv5133183,essv5123040,essv5093158,essv5081142,essv5066892,essv5120355,essv5028260,essv5059617,essv5040791,essv5090925,essv5026019,essv5106324,essv5067109,essv5123982,essv5125342,essv5033505,essv5070557,essv5121934,essv5031359,essv5073813,essv5127565,essv5159321,essv5006992,essv5130090,essv5130435,essv5047876,essv5057429,essv5141968,essv5093896,essv5143516,essv5150725,essv5086322,essv5137879,essv5155591,essv5094441,essv5130541,essv5120750,essv5009574,essv5070915,essv5070171,essv5089036,essv5007359,essv5104548,essv5110822,essv5076345,essv5135681,essv5152820,essv5116511,essv5151430,essv5116563,essv5095566,essv5061832,essv5115023,essv5111533,essv5089270,essv5067570,essv5057425,essv5076230,essv5149381,essv5074292,essv5053056,essv5146032,essv5085941,essv5052940,essv5137365,essv5136949,essv5045017,essv5138766,essv5070729,essv5031757,essv5005171,essv5120768,essv5010502,essv5047253,essv5130638,essv5116763,essv5078878,essv5095367,essv5110368,essv5052663,essv5158957,essv5005932,essv5045932,essv5134438,essv5153223,essv5074388,essv5119547,essv5013702,essv5147380,essv5015763,essv5071751,essv5058852,essv5014536,essv5019304,essv5073485,essv5091223,essv5073366,essv5017545,essv5096356,essv5088881,essv5090288,essv5066444,essv5060093,essv5133247,essv5019241,essv5069693,essv5126457,essv5113454,essv5149700,essv5129320,essv5090918,essv5037571,essv5153138,essv5132147,essv5088723,essv5088252,essv5034852,essv5032359,essv5063085,essv5063118,essv5053432,essv5104087,essv5040767,essv5090312,essv5082790,essv5086579,essv5049317,essv5143099,essv5068023,essv5018804,essv5100963,essv5032615,essv5108126,essv5017041,essv5152594,essv5035652 M 1184 0 226 "" NA07000,NA07055,NA07349,NA07357,NA10836,NA10837,NA10850,NA10864,NA10865,NA11891,NA11894,NA11917,NA11992,NA11993,NA12003,NA12006,NA12044,NA12144,NA12145,NA12239,NA12249,NA12272,NA12273,NA12275,NA12282,NA12335,NA12336,NA12340,NA12343,NA12375,NA12376,NA12489,NA12718,NA12763,NA12778,NA12802,NA12814,NA12815,NA12832,NA12842,NA17995,NA18127,NA18139,NA18166,NA18484,NA18486,NA18503,NA18548,NA18615,NA18619,NA18696,NA18949,NA18951,NA18961,NA18962,NA18969,NA18970,NA18977,NA19002,NA19063,NA19068,NA19078,NA19087,NA19093,NA19141,NA19197,NA19199,NA19247,NA19313,NA19318,NA19319,NA19334,NA19380,NA19435,NA19437,NA19448,NA19462,NA19467,NA19471,NA19625,NA19649,NA19651,NA19652,NA19653,NA19656,NA19661,NA19669,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19682,NA19683,NA19708,NA19716,NA19718,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19750,NA19756,NA19760,NA19771,NA19775,NA19782,NA19784,NA19789,NA19794,NA19795,NA19796,NA19916,NA19921,NA20302,NA20334,NA20335,NA20356,NA20358,NA20359,NA20510,NA20512,NA20515,NA20516,NA20520,NA20527,NA20528,NA20531,NA20534,NA20535,NA20538,NA20544,NA20582,NA20589,NA20752,NA20761,NA20768,NA20769,NA20770,NA20771,NA20778,NA20783,NA20790,NA20792,NA20795,NA20799,NA20800,NA20809,NA20810,NA20813,NA20818,NA20828,NA20850,NA20852,NA20853,NA20856,NA20866,NA20873,NA20874,NA20875,NA20879,NA20881,NA20890,NA20895,NA20897,NA20898,NA20899,NA20902,NA20908,NA20911,NA21088,NA21089,NA21097,NA21104,NA21109,NA21115,NA21141,NA21295,NA21302,NA21303,NA21308,NA21339,NA21352,NA21353,NA21356,NA21357,NA21364,NA21368,NA21385,NA21389,NA21424,NA21434,NA21454,NA21455,NA21473,NA21475,NA21477,NA21485,NA21487,NA21489,NA21490,NA21491,NA21524,NA21526,NA21527,NA21574,NA21575,NA21582,NA21583,NA21635,NA21636,NA21716,NA21717,NA21718,NA21723,NA21733,NA21738,NA21776,NA21784,NA21826 nsv521693 16 2639305 2647450 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698313 S 2026 1 0 "" nsv457354 16 2639305 2690697 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534555 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCTD5,LOC100507321 HGDP01249 nsv442390 16 2646796 2669702 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100507321 dgv2572n71 16 2658425 2719237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905160,nsv905159 M 6533 0 2 KCTD5,LOC100507321,PRSS27 SP54956,SP54988 nsv905161 16 2658425 2752940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567146,nssv1597939,nssv1588245,nssv1533804,nssv1572680 M 6533 0 5 KCTD5,LOC100128788,LOC100507321,PRSS27,SRRM2 IS31045,IS33162,IS38176,IS41243,MS11306 nsv905162 16 2658425 3040096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529077 S 6533 1 0 CCDC64B,CLDN6,CLDN9,FLYWCH1,FLYWCH2,HCFC1R1,KCTD5,KREMEN2,LOC100128788,LOC100507321,LOC283875,MMP25,PAQR4,PKMYT1,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,SRRM2,TCEB2,THOC6,TNFRSF12A,ZG16B SP81438 nsv905163 16 2677072 2693618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519149 S 6533 1 0 KCTD5 SP80957 nsv905164 16 2677072 2711775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500550 S 6533 0 1 KCTD5,PRSS27 SP50159 nsv471073 16 2677072 2763571 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545256 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCTD5,LOC100128788,PRSS27,SRRM2,TCEB2 HGDP00825 nsv905165 16 2677072 2903318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580914 S 6533 0 1 FLYWCH1,FLYWCH2,KCTD5,LOC100128788,PRSS21,PRSS22,PRSS27,PRSS30P,PRSS33,PRSS41,SRRM2,TCEB2,ZG16B IS35484 nsv9337 16 2683435 2687891 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22173 S 31 0 1 Samples from several populations that are part of the HapMap project. KCTD5 NA07048 nsv519596 16 2687617 2690456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696942 S 2026 0 1 KCTD5 nsv817714 16 2687617 2690697 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417736,nssv1417307 M 112 0 2 KCTD5 NA18608,NA19003 esv2750710 16 2730968 2732403 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95170 S 51 1 0 LOC100128788 21721 nsv827522 16 2750466 2751540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422418 S 31 1 0 SRRM2 NA18969 dgv2573n71 16 2762175 2815484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905168,nsv905166,nsv905172,nsv905171 M 6533 0 4 PRSS21,PRSS33,PRSS41,TCEB2 SP51109,SP54956,SP54988,SP55021 nsv905167 16 2763571 2772758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519351 S 6533 0 1 TCEB2 SP81010 nsv905169 16 2763571 2903318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585994 S 6533 0 1 FLYWCH1,FLYWCH2,PRSS21,PRSS22,PRSS30P,PRSS33,PRSS41,TCEB2,ZG16B IS37646 nsv905170 16 2763571 3191523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573915 S 6533 0 1 CCDC64B,CLDN6,CLDN9,FLYWCH1,FLYWCH2,HCFC1R1,IL32,KREMEN2,LOC283875,MGC3771,MMP25,PAQR4,PKMYT1,PRSS21,PRSS22,PRSS30P,PRSS33,PRSS41,TCEB2,THOC6,TNFRSF12A,ZG16B,ZNF205,ZNF213,ZSCAN10 IS33504 nsv827523 16 2766700 2768318 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433259 S 31 1 0 TCEB2 NA18972 nsv482187 16 2773955 2776709 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558548 S 1 1 0 PRSS33 KB1 nsv905173 16 2785639 2811122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507497 S 6533 0 1 PRSS21,PRSS41 SP54725 dgv2574n71 16 2817635 2924869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905177,nsv905174,nsv905175,nsv905178 M 6533 0 4 FLYWCH1,FLYWCH2,PRSS22,PRSS30P,ZG16B MS10769,MS13095,MS16153,MS18276 nsv509587 16 2832960 2864326 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619676,nssv623682,nssv621020 M 4 3 0 PRSS22 NA10860,NA15510,NA18994 dgv2575n71 16 2832962 3053899 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905176,nsv905180,nsv905179 M 6533 0 3 CCDC64B,CLDN6,CLDN9,FLYWCH1,FLYWCH2,HCFC1R1,KREMEN2,LOC283875,MMP25,PAQR4,PKMYT1,PRSS22,THOC6,TNFRSF12A IS33797,IS34235,IS39233 nsv1712 16 2832986 2860376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9962,nssv10075,nssv6656,nssv2947,nssv5583,nssv1291,nssv4191 M 9 7 0 PRSS22 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv525220 16 2858293 2859930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701306 S 2026 0 1 "" nsv833124 16 2871058 2935707 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452246,nssv1452245,nssv1452244,nssv1452243,nssv1452247 M 95 0 5 FLYWCH1,FLYWCH2 nsv436210 16 2875815 2880614 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465527 S 2 0 1 Samples from several populations that are part of the HapMap project. FLYWCH2 NA18505 esv27009 16 2895505 2896040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20676 S 451 0 1 "" NA12239 nsv905181 16 2909857 2946841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598215 S 6533 0 1 FLYWCH1 IS41243 dgv2576n71 16 2909857 3040096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905182,nsv905184,nsv905183 M 6533 0 4 CCDC64B,CLDN6,CLDN9,FLYWCH1,HCFC1R1,KREMEN2,LOC283875,MMP25,PAQR4,PKMYT1,THOC6,TNFRSF12A IS32841,IS33455,IS34304,MS13770 nsv509588 16 2909882 3033778 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619677 S 4 1 0 CCDC64B,CLDN6,CLDN9,FLYWCH1,HCFC1R1,KREMEN2,LOC283875,PAQR4,PKMYT1,THOC6,TNFRSF12A NA10860 nsv510673 16 2909882 3033778 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622701 S 4 0 1 CCDC64B,CLDN6,CLDN9,FLYWCH1,HCFC1R1,KREMEN2,LOC283875,PAQR4,PKMYT1,THOC6,TNFRSF12A NA18994 esv29676 16 2912982 2925882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17733 S 451 0 1 FLYWCH1 NA11931 nsv905185 16 2917366 3191523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510124 S 6533 0 1 CCDC64B,CLDN6,CLDN9,FLYWCH1,HCFC1R1,IL32,KREMEN2,LOC283875,MGC3771,MMP25,PAQR4,PKMYT1,THOC6,TNFRSF12A,ZNF205,ZNF213,ZSCAN10 SP54956 esv29718 16 2933160 2933621 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13401 S 451 3 0 FLYWCH1 NA12044,NA18916,NA19190 nsv827524 16 2938160 2938618 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425351 S 31 0 1 FLYWCH1 AK2 nsv819421 16 2938218 2938866 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419040 S 2 0 1 FLYWCH1 AK1 dgv2577n71 16 2943835 3040096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905187,nsv905186,nsv905189,nsv905191,nsv905190,nsv905188 M 6533 0 6 CCDC64B,CLDN6,CLDN9,HCFC1R1,KREMEN2,LOC283875,MMP25,PAQR4,PKMYT1,THOC6,TNFRSF12A IS32737,IS33248,IS39417,MS10311,SP54043,SP54988 nsv433167 16 2950446 2955264 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463048 S 9 0 1 Samples from several populations that are part of the HapMap project. KREMEN2 NA19240 dgv2578n71 16 2950511 3077262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905194,nsv905192 M 6533 0 2 CCDC64B,CLDN6,CLDN9,HCFC1R1,IL32,KREMEN2,LOC283875,MMP25,PAQR4,PKMYT1,THOC6,TNFRSF12A IS37172,MS16153 nsv827525 16 2950858 2966335 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433260 S 31 1 0 KREMEN2,PAQR4,PKMYT1 NA18972 nsv905193 16 2958636 3017868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511514 S 6533 0 1 CLDN6,CLDN9,HCFC1R1,LOC283875,PAQR4,PKMYT1,THOC6,TNFRSF12A SP55021 dgv2579n71 16 2963606 3040096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905195,nsv905196 M 6533 0 2 CCDC64B,CLDN6,CLDN9,HCFC1R1,LOC283875,MMP25,PKMYT1,THOC6,TNFRSF12A IS37646,MS17825 nsv103596 16 3001465 3001575 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122174 M 24 "" nsv905197 16 3006169 3017868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508680 S 6533 0 1 CLDN6,HCFC1R1,THOC6,TNFRSF12A SP54725 nsv833125 16 3007126 3121819 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452248 S 95 0 1 CCDC64B,CLDN6,HCFC1R1,IL32,MGC3771,MMP25,THOC6,TNFRSF12A,ZNF205,ZSCAN10 nsv509589 16 3035937 3159202 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619678 S 4 1 0 IL32,MGC3771,MMP25,ZNF205,ZNF213,ZSCAN10 NA10860 nsv905198 16 3042210 3058990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512260 S 6533 0 1 IL32,MMP25 SP55381 nsv905199 16 3050715 3062283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515428 S 6533 0 1 IL32,MMP25 SP56196 nsv515926 16 3053899 3055629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657950,nssv665330 M 2026 0 2 IL32 dgv159n21 16 3053899 3065428 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525573,nsv527051 M 2026 0 2 IL32 dgv2580n71 16 3055629 3173738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905201,nsv905200 M 6533 0 2 IL32,MGC3771,ZNF205,ZNF213,ZSCAN10 IS33684,IS34235 esv2103609 16 3056816 3057194 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4896316 S 1 0 1 IL32 NA18507 esv3251 16 3056896 3057272 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25692 S 1 0 1 Single Asian sample YH IL32 YH nsv103250 16 3056913 3057072 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121828 M 24 IL32 nsv457355 16 3105426 3241898 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534556 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MEFV,MGC3771,OR1F1,OR1F2P,ZNF200,ZNF205,ZNF213 HGDP00697 dgv2581n71 16 3117556 3134617 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905202,nsv905203 M 6533 0 2 ZNF213 SP54672,SP54725 dgv2582n71 16 3125614 3135269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905206,nsv905205,nsv905204 M 6533 0 3 ZNF213 SP54043,SP55019,SP55021 nsv905207 16 3125738 3143036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510923 S 6533 0 1 ZNF213 SP54988 nsv905208 16 3125738 3263570 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571061 S 6533 0 1 FLJ39639,MEFV,OR1F1,OR1F2P,ZNF200,ZNF213 IS32532 esv1496729 16 3132364 3132364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730874 S 2 1 0 ZNF213 HuRef nsv103291 16 3132365 3132365 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121869 M 24 ZNF213 nsv833127 16 3142783 3249414 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452252,nssv1452251,nssv1452249,nssv1452255,nssv1452254,nssv1452250,nssv1452253 M 95 1 6 MEFV,OR1F1,OR1F2P,ZNF200 dgv337n27 16 3143036 3191523 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457357,nsv457356 M 1557 2 0 "" HGDP00615,HGDP01064 nsv471074 16 3143036 3217252 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545257 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR1F1,OR1F2P,ZNF200 HGDP00697 nsv457358 16 3154965 3183367 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534559 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01372 nsv524943 16 3155105 3182616 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700960 S 2026 1 0 "" nsv1713 16 3169213 3202513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5584 S 9 1 0 OR1F1 NA19129 esv1959158 16 3187392 3187800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519065 S 1 0 1 "" NA18507 esv1462106 16 3187582 3187671 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592807 S 2 0 1 "" HuRef nsv524873 16 3191523 3194471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700878 S 2026 0 1 OR1F1 nsv905209 16 3194471 3263570 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598320,nssv1589397,nssv1596574,nssv1595693 M 6533 4 0 FLJ39639,MEFV,OR1F1,OR1F2P,ZNF200 IS38349,IS40298,IS40570,IS41025 nsv516280 16 3197869 3241898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672107,nssv667316 M 2026 2 0 MEFV,OR1F2P,ZNF200 esv27391 16 3201737 3202744 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16031 S 451 0 2 "" NA18916,NA19129 esv2464106 16 3202626 3204304 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346440 S 1 0 1 "" NA18507 nsv509592 16 3202842 3265835 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619679 S 4 1 0 FLJ39639,MEFV,OR1F2P,ZNF200 NA10860 esv1461631 16 3203283 3203578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886604 S 2 0 1 "" HuRef dgv2583n71 16 3206553 3302018 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905211,nsv905210 M 6533 0 2 FLJ39639,MEFV,TIGD7,ZNF200,ZNF263,ZNF75A IS37646,SP54956 nsv905212 16 3302018 3428917 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591490 S 6533 1 0 MTRNR2L4,OR2C1,ZNF174,ZNF434,ZNF597,ZNF75A IS38846 nsv1714 16 3331202 3364534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4192 S 9 1 0 MTRNR2L4,OR2C1 NA12878 nsv513443 16 3358648 3360314 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625846 S 1 1 0 "" 1 esv1219550 16 3383254 3383254 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317661 S 2 1 0 ZNF434 HuRef esv29492 16 3432827 3438745 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18475 S 451 1 0 NAA60,ZNF597 NA07037 nsv512420 16 3435158 3436990 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625012 S 1 0 1 NAA60 1 nsv1715 16 3450129 3458874 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2130 S 9 0 1 NAA60 NA18555 nsv905213 16 3450738 3670579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543682 S 6533 0 1 C16orf90,CLUAP1,DNASE1,NAA60,NLRC3,SLX4,TRAP1 MS16153 nsv905214 16 3465432 3500902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510126 S 6533 0 1 C16orf90,CLUAP1,NAA60 SP54956 nsv905215 16 3473255 3490148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500653 S 6533 0 1 C16orf90,NAA60 SP50159 nsv1716 16 3501574 3534042 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6657 S 9 1 0 CLUAP1,NLRC3 NA12156 nsv833128 16 3515123 3680499 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452256 S 95 0 1 CLUAP1,DNASE1,NLRC3,SLX4,TRAP1 nsv905216 16 3529111 3670579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530829 S 6533 0 1 DNASE1,NLRC3,SLX4,TRAP1 MS10311 nsv517451 16 3539656 3601816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660828,nssv688654,nssv685534,nssv683165,nssv691831,nssv693407,nssv691306,nssv664564,nssv672174,nssv670473,nssv679617,nssv651815,nssv657687,nssv666921,nssv678430,nssv666872,nssv658323,nssv652117,nssv661957,nssv666614,nssv682877,nssv658713,nssv691500,nssv663104,nssv669930,nssv655687,nssv679896,nssv692962,nssv691419,nssv682653,nssv684752,nssv692835,nssv703490,nssv677728,nssv678595,nssv676852,nssv685485,nssv663279,nssv656780,nssv655260,nssv665204,nssv666645,nssv660432,nssv686618,nssv653975,nssv675085,nssv673338,nssv652280,nssv667425,nssv678271,nssv677811,nssv661902,nssv687634,nssv668724,nssv652929,nssv662405 M 2026 0 56 NLRC3,SLX4 nsv905217 16 3549947 3569228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509367 S 6533 0 1 NLRC3 SP54782 nsv518509 16 3573658 3678962 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695950 S 2026 1 0 DNASE1,SLX4,TRAP1 esv28103 16 3622891 3624167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19212 S 451 0 1 "" NA12489 nsv457359 16 3645016 3658849 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534560 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNASE1,TRAP1 HGDP01066 nsv525301 16 3647748 3658849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701407 S 2026 0 1 DNASE1,TRAP1 nsv833129 16 3660076 3854572 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452257 S 95 0 1 CREBBP,TRAP1 nsv516876 16 3670579 3687205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673049,nssv654623 M 2026 0 2 TRAP1 nsv1717 16 3685768 3713048 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5585 S 9 1 0 TRAP1 NA19129 nsv833130 16 3800374 3965511 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452258 S 95 1 0 ADCY9,CREBBP esv21490 16 3815340 4260694 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19264,esv15767,esv9970,esv13542,esv21031,esv18019,esv20992,esv18762 M 451 5 2 ADCY9,CREBBP,LOC100507501,SRL,TFAP4 NA07037,NA07045,NA12004,NA12414,NA18511 esv9178 16 3858272 3858534 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31619 S 1 0 1 CREBBP SJK nsv827526 16 3868422 3872315 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433261 S 31 1 0 CREBBP NA18972 esv1787453 16 3879366 3879366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196306 S 2 1 0 "" HuRef esv1966086 16 3934424 3934853 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759347 S 1 0 1 "" NA18507 nsv905218 16 3937225 3977526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532487 S 6533 0 1 ADCY9 MS10769 nsv833131 16 3945870 4125558 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452260,nssv1452259,nssv1452262,nssv1452261,nssv1452263 M 95 0 5 ADCY9 nsv905219 16 3948231 4003552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530830 S 6533 0 1 ADCY9 MS10311 dgv2584n71 16 3956050 3977526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905221,nsv905220 M 6533 0 3 ADCY9 IS33162,IS36876,MS17208 nsv510410 16 3962382 3968382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621432,nssv624173 M 4 0 2 ADCY9 NA15510,NA18994 nsv525374 16 3972717 3974068 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701495 S 2026 1 0 ADCY9 nsv1718 16 3976236 4010254 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7225 S 9 1 0 ADCY9 NA12156 nsv517942 16 4048908 4055494 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695353 S 2026 0 1 ADCY9 nsv526024 16 4064301 4071884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702254 S 2026 0 1 ADCY9 nsv509593 16 4064554 4128129 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619680 S 4 1 0 ADCY9 NA10860 nsv1719 16 4084900 4129628 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7226 S 9 0 1 ADCY9 NA12156 nsv528573 16 4094852 4096858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705192 S 2026 0 1 ADCY9 dgv458n67 16 4103356 4108958 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827527,nsv827528 M 31 2 0 ADCY9 NA18526,NA18972 esv2751608 16 4109390 4228924 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982056,essv6988487,essv6982058,essv6986073,essv6982057 M 771 1 0 SRL BEC_516 esv2131571 16 4121450 4121888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497691 S 1 0 1 "" NA18507 dgv794e1 16 4149842 4198092 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1014,essv19364,essv24199 M 271 0 0 SRL NA07019,NA07056 nsv9338 16 4154190 4157344 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23840 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv527866 16 4196464 4402620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704364 S 2026 0 1 CORO7,CORO7-PAM16,GLIS2,LOC100507501,PAM16,SRL,TFAP4,VASN nsv524305 16 4202492 4207606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700206 S 2026 0 1 SRL nsv905222 16 4236786 4330359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599436 S 6533 0 1 CORO7-PAM16,GLIS2,LOC100507501,PAM16,TFAP4 IS41634 nsv905223 16 4236786 4385328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573916 S 6533 0 1 CORO7,CORO7-PAM16,GLIS2,LOC100507501,PAM16,TFAP4,VASN IS33504 nsv905224 16 4236786 4467110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546890 S 6533 0 1 CORO7,CORO7-PAM16,DNAJA3,GLIS2,HMOX2,LOC100507501,NMRAL1,PAM16,TFAP4,VASN MS17208 nsv827529 16 4262320 4264249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433264 S 31 1 0 TFAP4 NA18972 dgv2585n71 16 4283621 4380829 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905227,nsv905226,nsv905228,nsv905225 M 6533 0 5 CORO7,CORO7-PAM16,GLIS2,PAM16,VASN IS31656,IS33248,IS37985,IS39233,SP54988 dgv2586n71 16 4299422 4431062 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905231,nsv905230,nsv905229 M 6533 0 4 CORO7,CORO7-PAM16,DNAJA3,GLIS2,PAM16,VASN IS30197,IS33684,IS40799,MS18276 esv29063 16 4305209 4307247 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10913 S 451 0 3 "" NA07045,NA12004,NA18511 nsv471075 16 4307731 4385328 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545258,nssv545259 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CORO7,CORO7-PAM16,GLIS2,PAM16,VASN HGDP00298,HGDP00657 esv23732 16 4330815 4466246 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20232,esv18028 M 451 5 0 CORO7,CORO7-PAM16,DNAJA3,HMOX2,NMRAL1,PAM16,VASN NA07037,NA07045,NA12004,NA12239,NA18511 esv1211300 16 4334512 4334512 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753917 S 2 1 0 CORO7-PAM16,PAM16 HuRef nsv103783 16 4334585 4334815 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122361 M 24 CORO7-PAM16,PAM16 esv1548790 16 4334653 4334653 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192014 S 2 1 0 CORO7-PAM16,PAM16 HuRef nsv905232 16 4337755 4370729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506066 S 6533 0 1 CORO7,CORO7-PAM16,PAM16,VASN SP54043 nsv905233 16 4343665 4410028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499261 S 6533 0 1 CORO7,CORO7-PAM16,VASN SP50159 nsv520212 16 4344621 4380829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661903,nssv698754,nssv663724 M 2026 0 3 CORO7,CORO7-PAM16,VASN nsv833132 16 4360094 4453450 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452264,nssv1452265 M 95 0 2 CORO7,CORO7-PAM16,DNAJA3,NMRAL1,VASN nsv905234 16 4502352 4651738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592830 S 6533 0 1 C16orf5,C16orf96,FAM100A,MGRN1 IS39258 dgv2587n71 16 4526223 4696545 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905235,nsv905238 M 6533 0 3 ANKS3,C16orf5,C16orf96,FAM100A,MGRN1,NUDT16L1 IS30837,IS37985,IS38293 dgv2588n71 16 4526223 4761699 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905237,nsv905236,nsv905239,nsv905240 M 6533 0 5 ANKS3,C16orf5,C16orf71,C16orf96,FAM100A,MGRN1,NUDT16L1,ZNF500 IS33504,IS34304,IS35484,MS19852,MS20471 dgv2589n71 16 4554860 4804180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905241,nsv905242 M 6533 0 2 ANKS3,C16orf71,C16orf96,FAM100A,GLYR1,LOC440335,MGRN1,NUDT16L1,ROGDI,SEPT12,ZNF500 MS10311,MS16153 esv32558 16 4584460 4584920 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100242 S 51 1 0 C16orf96 22286 nsv905243 16 4589721 4696545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510925 S 6533 0 1 ANKS3,C16orf96,FAM100A,MGRN1,NUDT16L1 SP54988 esv28573 16 4638296 4638861 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20725 S 451 1 0 MGRN1 NA18505 dgv2590n71 16 4661469 4773971 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905245,nsv905246,nsv905247,nsv905244 M 6533 0 4 ANKS3,C16orf71,MGRN1,NUDT16L1,SEPT12,ZNF500 IS32841,IS33665,IS39233,IS41634 nsv905248 16 4661469 4804180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546891 S 6533 0 1 ANKS3,C16orf71,GLYR1,LOC440335,MGRN1,NUDT16L1,ROGDI,SEPT12,ZNF500 MS17208 nsv905249 16 4665864 4696545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510127,nssv1507950 M 6533 0 2 ANKS3,MGRN1,NUDT16L1 SP54725,SP54956 nsv905250 16 4706598 4812761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570801 S 6533 0 1 ANKS3,C16orf71,GLYR1,LOC440335,ROGDI,SEPT12,ZNF500 IS32322 nsv512421 16 4709812 4712409 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625013 S 1 0 1 ANKS3 1 esv8161 16 4709821 4712422 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30602 S 1 0 1 ANKS3 SJK esv33706 16 4710525 4711967 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101552,essv101175,essv96836,essv100952,essv94722,essv97804,essv95443,essv93087,essv101765,essv92959,essv92807,essv96130,essv96058,essv93470,essv99579,essv94900,essv92578,essv96433,essv99320,essv97729,essv100185,essv100501 M 51 22 0 ANKS3 21603,21618,21659,21693,21791,21837,21847,21863,21909,21939,21944,22007,22127,22128,22217,22231,22233,22261,22275,22278,22286,22298 nsv435669 16 4711053 4715494 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465528 S 2 0 1 ANKS3 NA15510 esv26756 16 4762531 4845233 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13855,esv10759,esv21156,esv12201 M 451 4 1 GLYR1,LOC440335,ROGDI,SEPT12,UBN1 NA07037,NA07045,NA18511,NA19190 esv2422516 16 4765922 5150981 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161427 S 181 0 1 ALG1,C16orf89,FAM86A,GLYR1,LOC100507589,LOC440335,NAGPA,PPL,ROGDI,SEC14L5,SEPT12,UBN1 ND01527 nsv905251 16 4781618 4800553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510926 S 6533 0 1 GLYR1,LOC440335,ROGDI SP54988 nsv510674 16 4822448 4872733 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620088 S 4 0 1 GLYR1,PPL,UBN1 NA15510 esv998381 16 4837683 4839023 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566478 S 3 0 1 UBN1 HuRef nsv1720 16 4844260 4890579 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6659 S 9 0 1 PPL,UBN1 NA12156 esv25186 16 4848502 5132802 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11787,esv16926 M 451 3 0 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,PPL,SEC14L5,UBN1 NA11931,NA18858,NA19129 nsv905252 16 4864896 4895257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575147,nssv1543684 M 6533 0 2 PPL,UBN1 IS33684,MS16153 nsv905253 16 4864896 4909223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530832 S 6533 0 1 PPL,UBN1 MS10311 nsv905254 16 4864896 5121193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546892 S 6533 0 1 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,PPL,SEC14L5,UBN1 MS17208 dgv795e1 16 4912851 5364830 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv744,essv10673 M 271 0 0 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,PPL,SEC14L5 NA18855 nsv827530 16 4925871 4931136 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433265 S 31 1 0 PPL NA18972 nsv528586 16 4941305 5011671 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705211 S 2026 1 0 SEC14L5 esv33834 16 4943621 4947896 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93808,essv95010 M 51 2 0 "" 21634,22231 nsv9339 16 4949933 4954276 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22547 S 31 0 1 Samples from several populations that are part of the HapMap project. SEC14L5 NA18563 nsv905255 16 4950914 5017453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537141 S 6533 0 1 NAGPA,SEC14L5 MS13095 nsv457360 16 4950914 5274685 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534561 S 1557 0 1 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,SEC14L5 NINDS_90 esv34300 16 4995940 5312536 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979879,essv6979878,essv6979877,essv6990419,essv6979880 M 771 1 0 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,SEC14L5 NA18855 dgv796e1 16 4995942 5310411 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3074,essv17400,essv19547 M 271 0 0 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,SEC14L5 NA12864,NA18855,NA18981 nsv817715 16 4996296 5299354 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416403 S 112 1 0 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,SEC14L5 NA18855 nsv428318 16 5001596 5364830 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452902 S 62 1 0 ALG1,C16orf89,FAM86A,LOC100507589,NAGPA,SEC14L5 NA19113 nsv1722 16 5021099 5065949 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7227 S 9 0 1 ALG1,C16orf89,LOC100507589,NAGPA NA12156 nsv9340 16 5046136 5050660 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25599 S 31 0 1 Samples from several populations that are part of the HapMap project. C16orf89 NA18972 nsv827532 16 5047771 5050836 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427876 S 31 0 1 C16orf89 AK8 nsv482188 16 5061811 5077379 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558549 S 1 1 0 ALG1,FAM86A KB1 nsv482189 16 5074303 5087790 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558550 S 1 1 0 ALG1,FAM86A KB1 esv992192 16 5119942 5121017 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565303 S 3 0 1 "" HuRef nsv905256 16 5124912 5282205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543153 S 6533 0 1 "" MS16064 nsv518948 16 5134459 5191132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696415 S 2026 0 1 "" esv1493241 16 5197598 5197598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086344 S 2 1 0 "" HuRef nsv516117 16 5225395 5291112 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686619,nssv688261,nssv668846,nssv666316 M 2026 0 4 "" nsv507799 16 5275284 5281284 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623201 S 4 1 0 "" NA18994 dgv2591n71 16 5284559 5335092 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905258,nsv905257 M 6533 0 4 "" IS38186,IS38601,IS39418,IS41973 nsv905259 16 5284559 5683762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520856 S 6533 1 0 "" SP51267 nsv9341 16 5286149 5293272 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23318,nssv26275,nssv22456,nssv24966,nssv22203,nssv25683,nssv25622,nssv27680,nssv20239,nssv22624,nssv20842,nssv21782,nssv21906 M 31 10 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA12740,NA18502,NA18504,NA18517,NA18552,NA18572,NA18942,NA18972,NA19221 nsv517528 16 5292667 5299354 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677022,nssv652281,nssv665896,nssv672175,nssv656882 M 2026 5 0 "" nsv134 16 5312714 5329006 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv134 S 1 1 0 "" NA15510 nsv1723 16 5312714 5329006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10944 S 9 1 0 "" NA15510 nsv905260 16 5324422 5968452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537400 S 6533 1 0 "" MS13179 nsv9342 16 5366406 5369809 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23281,nssv23867,nssv26292 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA19144,NA19173 esv27434 16 5366666 5369607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14670 S 451 0 4 "" NA18502,NA18523,NA18861,NA19129 esv275363 16 5394455 5394824 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585152 S 1250 0 1 "" nsv1724 16 5396185 5430203 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7228 S 9 1 0 "" NA12156 esv33090 16 5403356 5407355 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97584 S 51 0 1 "" 21616 esv32682 16 5421933 5424242 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101515 S 51 0 1 "" 21603 esv2216405 16 5478005 5478560 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801290 S 1 0 1 "" NA18507 esv2435109 16 5478433 5478753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198186 S 1 0 1 "" NA18507 nsv905261 16 5493183 5644842 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601161 S 6533 1 0 "" IS41979 esv23379 16 5512059 5520265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10274 S 451 0 1 "" NA11894 nsv833133 16 5523054 5671671 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452266 S 95 0 1 "" esv2751610 16 5523319 5562468 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989785,essv6983405,essv6983406 M 771 0 1 "" BEC_649 nsv521772 16 5523368 5559790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694539 S 2026 0 1 "" nsv510675 16 5533391 5599988 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622702 S 4 0 1 "" NA18994 nsv523610 16 5533820 5540753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699404 S 2026 0 1 "" dgv797e1 16 5542095 5551122 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv185,esv1054 M 271 0 0 "" NA18994 nsv817716 16 5548535 5553562 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417661 S 112 0 1 "" NA18994 esv1237640 16 5643204 5643204 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645530 S 2 1 0 "" HuRef esv2206700 16 5713190 5713685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669134 S 1 0 1 "" NA18507 esv3735 16 5713312 5713757 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26176 S 1 0 1 Single Asian sample YH "" YH nsv103070 16 5713327 5713427 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121648 M 24 "" dgv2592n71 16 5723858 5796463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905263,nsv905262 M 6533 0 2 "" MS20753,MS22146 esv275120 16 5753544 5755199 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585573,essv2585250 M 1250 1 1 "" nsv515535 16 5770743 5792282 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663851,nssv667198 M 2026 2 0 "" nsv509594 16 5773003 5832405 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623683 S 4 1 0 "" NA18994 nsv527117 16 5803764 5825941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703499 S 2026 0 1 "" nsv1725 16 5976689 5999761 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7229 S 9 0 1 "" NA12156 nsv905264 16 6003442 6103801 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567919 S 6533 1 0 RBFOX1 IS31172 nsv905265 16 6020424 6088031 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537401 S 6533 1 0 RBFOX1 MS13179 nsv905266 16 6029496 6068521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565749 S 6533 0 1 RBFOX1 IS30520 nsv457362 16 6077412 6653778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534562 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00655 nsv471076 16 6079141 6653778 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545260,nssv545261 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00655,HGDP01275 nsv457364 16 6084649 6137800 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534564 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00106 nsv905267 16 6140589 6167024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572421 S 6533 1 0 RBFOX1 IS33040 nsv1726 16 6161100 6195634 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4193 S 9 1 0 RBFOX1 NA12878 nsv905268 16 6190972 6672434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559060,nssv1533452 M 6533 0 2 RBFOX1 MS11191,MS23703 nsv457365 16 6197543 6215532 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534565 S 1557 0 1 RBFOX1 1780854261_A nsv522983 16 6197543 6215532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698653 S 2026 0 1 RBFOX1 esv2444502 16 6227760 6229184 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288117 S 1 0 1 RBFOX1 NA18507 esv2548153 16 6232667 6233141 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163649 S 1 0 1 RBFOX1 NA18507 nsv519158 16 6276738 6465984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696638 S 2026 0 1 RBFOX1 nsv457366 16 6336949 6641567 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534566 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP01275 nsv526238 16 6352866 6805182 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702507 S 2026 0 1 RBFOX1 nsv527101 16 6358885 6360927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703481 S 2026 0 1 RBFOX1 dgv459n67 16 6363022 6363833 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827533,nsv827534 M 31 0 3 RBFOX1 AK12,NA18537,NA18997 nsv821478 16 6363022 6363833 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421160 S 1 1 0 RBFOX1 NA10851 esv1467747 16 6363372 6363372 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777372 S 2 1 0 RBFOX1 HuRef nsv520905 16 6381936 6382185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677298,nssv681575,nssv693511 M 2026 0 3 RBFOX1 nsv521039 16 6382185 6385294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697749 S 2026 0 1 RBFOX1 nsv103531 16 6429975 6429975 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122109 M 24 RBFOX1 nsv457367 16 6445965 6696690 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534567 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00672 dgv798e1 16 6448405 6449672 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1316,essv8504 M 271 0 0 RBFOX1 NA18854 nsv518384 16 6452397 6499568 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695815 S 2026 1 0 RBFOX1 nsv510411 16 6472013 6478013 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618417 S 4 0 1 RBFOX1 CHM esv2508614 16 6475300 6476765 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171237 S 1 0 1 RBFOX1 NA18507 nsv103669 16 6502133 6502285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122247 M 24 RBFOX1 nsv520093 16 6518170 6530335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697220 S 2026 0 1 RBFOX1 nsv528564 16 6564364 6573081 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705180 S 2026 1 0 RBFOX1 nsv905269 16 6564364 6617778 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547487 S 6533 1 0 RBFOX1 MS17398 dgv338n27 16 6577114 6629093 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457368,nsv457369,nsv457370,nsv457371 M 1557 4 0 RBFOX1 HGDP00548,HGDP00550,HGDP00552,HGDP00787 nsv520695 16 6582197 6601693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677694,nssv674196 M 2026 0 2 RBFOX1 nsv471077 16 6582197 6629093 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545266,nssv545263,nssv545264,nssv545262,nssv545267 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00548,HGDP00549,HGDP00550,HGDP00787,HGDP00978 dgv799e1 16 6588011 6878909 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv683,essv16029 M 271 0 0 RBFOX1 NA18501 nsv905270 16 6591543 6635343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538241 S 6533 1 0 RBFOX1 MS13548 nsv524570 16 6594460 6621638 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700525 S 2026 1 0 RBFOX1 dgv800e1 16 6594720 6632981 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24643,essv20880 M 271 0 0 RBFOX1 NA10846,NA12145 nsv905271 16 6595450 6621185 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578011 S 6533 1 0 RBFOX1 IS34642 dgv114e55 16 6598310 6632981 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34460,esv35083 M 771 2 0 RBFOX1 NA10846,NA12145 nsv522105 16 6612412 6612742 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694877 S 2026 1 0 RBFOX1 nsv457372 16 6617778 6653778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534572 S 1557 0 1 RBFOX1 1780854080_A nsv522025 16 6617778 6653778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694795 S 2026 0 1 RBFOX1 esv2422241 16 6623718 6852974 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161448 S 181 0 1 RBFOX1 ND03710 esv1394865 16 6626775 6626828 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889020 S 2 0 1 RBFOX1 HuRef nsv523779 16 6640890 6643930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699602 S 2026 0 1 RBFOX1 nsv457373 16 6668604 6714697 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534573 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00771 esv1442422 16 6683282 6683762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321026 S 2 0 1 RBFOX1 HuRef nsv519407 16 6685600 6686373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677299,nssv656005 M 2026 0 2 RBFOX1 dgv2593n71 16 6686746 6736867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905272,nsv905273 M 6533 0 2 RBFOX1 MS24223,SP57469 nsv457375 16 6687103 6694583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534574 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00927 nsv525921 16 6694529 6696397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702125 S 2026 0 1 RBFOX1 esv24834 16 6703954 6724277 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18760,esv16587,esv19093 M 451 3 0 RBFOX1 NA18508,NA18517,NA18909 nsv437800 16 6710879 6745544 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467681 S 60 0 1 Samples from several populations that are part of the HapMap project. RBFOX1 NA18500 esv34485 16 6713809 6742380 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979139,essv6979138,essv6988109 M 771 0 1 RBFOX1 NA18500 dgv801e1 16 6713809 6752649 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13346,essv9577 M 271 0 0 RBFOX1 NA18500,NA18501 nsv9343 16 6715845 6722118 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24991 S 31 1 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA18504 essv1540 16 6717197 6721490 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA19012 nsv905274 16 6718691 6732420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530264 S 6533 0 1 RBFOX1 MS10287 nsv457376 16 6718997 6842149 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534575 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00771 esv268107 16 6733784 6733869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517899,essv2517714 M 157 2 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA12872,NA12878 esv274644 16 6733784 6733869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581343 S 7 1 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA12878 dgv2594n71 16 6752293 6888634 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905277,nsv905281,nsv905275 M 6533 0 7 RBFOX1 MS10127,MS13025,MS13379,MS16042,MS18940,MS19356,MS23713 nsv905276 16 6764824 6804529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565689,nssv1560805,nssv1590370 M 6533 0 3 RBFOX1 IS30506,IS38501,MS24714 esv22255 16 6776370 6777669 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16985,esv13072 M 451 0 2 RBFOX1 NA18517,NA19114 dgv339n27 16 6778399 6867243 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457379,nsv457377 M 1557 0 2 RBFOX1 HGDP01262,HGDP01276 nsv457378 16 6778399 6954663 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534577 S 1557 0 1 RBFOX1 NINDS_96 dgv2595n71 16 6778399 7038654 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905280,nsv905282,nsv905278 M 6533 0 3 RBFOX1 MS12157,MS21465,SP52582 dgv2596n71 16 6778957 6939094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905283,nsv905279 M 6533 0 2 RBFOX1 MS15601,SP50038 nsv525006 16 6783832 6784096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701041 S 2026 0 1 RBFOX1 nsv471078 16 6783832 6867243 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545268,nssv545269 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP01262,HGDP01276 esv1951064 16 6790017 6790455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787691 S 1 0 1 RBFOX1 NA18507 nsv528734 16 6813789 6888634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705390 S 2026 0 1 RBFOX1 esv992566 16 6828491 6830397 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563674 S 3 1 0 RBFOX1 HuRef esv1002783 16 6832073 6833524 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587036 S 3 1 0 RBFOX1 HuRef esv1283590 16 6849122 6849176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350715 S 2 0 1 RBFOX1 HuRef esv1009215 16 6849122 6849188 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570749 S 3 0 1 RBFOX1 HuRef nsv103775 16 6849132 6849197 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122353 M 24 RBFOX1 nsv521646 16 6875269 6888634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694469 S 2026 0 1 RBFOX1 nsv528746 16 6888634 6972054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705407 S 2026 0 1 RBFOX1 nsv905284 16 6888634 6980831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600378 S 6533 0 1 RBFOX1 IS41875 esv988798 16 6897941 6898501 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586614 S 3 0 1 RBFOX1 HuRef nsv905285 16 6912217 6967720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594830 S 6533 0 1 RBFOX1 IS40038 nsv526472 16 6912217 7002446 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702777 S 2026 1 0 RBFOX1 nsv905286 16 6928412 7086270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524195 S 6533 0 1 RBFOX1 SP54905 dgv802e1 16 6973749 7021963 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1191,essv5616 M 271 0 0 RBFOX1 NA18593 nsv515947 16 6980831 6986259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665411,nssv656279,nssv682595,nssv677272 M 2026 0 4 RBFOX1 nsv827535 16 6984858 6995643 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438467 S 31 0 1 RBFOX1 NA18951 nsv817718 16 6986259 6991129 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417406 S 112 0 1 RBFOX1 NA18951 nsv457381 16 6986259 7034208 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534579 S 1557 0 1 RBFOX1 1780862176_A nsv457382 16 6990341 7022046 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534580 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00264 nsv905287 16 6990341 7142604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557338 S 6533 0 1 RBFOX1 MS22611 nsv905288 16 6997568 7029820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516679,nssv1514975,nssv1500951,nssv1518962,nssv1516160 M 6533 0 5 RBFOX1 SP50936,SP56106,SP56505,SP56890,SP80924 esv2636026 16 6997924 6999552 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292253 S 1 0 1 RBFOX1 NA18507 nsv827536 16 7001963 7022763 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429438 S 31 0 1 RBFOX1 AK12 nsv817719 16 7002446 7009057 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417260 S 112 0 1 RBFOX1 NA18593 nsv457383 16 7002446 7022046 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534581 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00771 esv34350 16 7004037 7021960 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989108,essv6988214 M 771 0 1 RBFOX1 NA18593 nsv9344 16 7025772 7033082 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22793 S 31 0 1 Samples from several populations that are part of the HapMap project. RBFOX1 NA19007 nsv827537 16 7028097 7029108 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423783 S 31 0 1 RBFOX1 NA18999 nsv457384 16 7046361 7066733 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534582 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX1 HGDP00808 nsv517828 16 7046361 7066733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695233 S 2026 0 1 RBFOX1 nsv525047 16 7049010 7051528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701092 S 2026 0 1 RBFOX1 nsv521317 16 7055291 7105351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697924 S 2026 0 1 RBFOX1 nsv905289 16 7059846 7123346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541510 S 6533 0 1 RBFOX1 MS15341 nsv1727 16 7073764 7109087 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4194 S 9 1 0 RBFOX1 NA12878 nsv526537 16 7085568 7093693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702851 S 2026 0 1 RBFOX1 nsv905290 16 7101329 7123346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560482,nssv1561713,nssv1534254 M 6533 0 3 RBFOX1 MS11497,MS24498,MS25193 esv275331 16 7107887 7109431 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585161 S 1250 0 1 RBFOX1 nsv518859 16 7110960 7112069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696313 S 2026 0 1 RBFOX1 nsv522167 16 7128254 7141446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694940 S 2026 0 1 RBFOX1 nsv905291 16 7128407 7177956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504598,nssv1517190 M 6533 0 2 RBFOX1 SP52656,SP57205 nsv525094 16 7132653 7141446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701153 S 2026 0 1 RBFOX1 esv2436680 16 7136844 7137410 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280009 S 1 1 0 RBFOX1 NA18507 nsv527944 16 7140241 7140564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704452 S 2026 0 1 RBFOX1 nsv528008 16 7153393 7177956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704534 S 2026 0 1 RBFOX1 esv2581413 16 7165871 7166888 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218833 S 1 1 0 RBFOX1 NA18507 esv272825 16 7166201 7166551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580860,essv2579708 M 7 2 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA19238,NA19240 esv270669 16 7166207 7166534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540968,essv2542363,essv2543808,essv2556739,essv2570427,essv2550584,essv2553947,essv2547236,essv2559562,essv2554897,essv2530671,essv2561930,essv2540166,essv2557548,essv2557254,essv2552501,essv2532370,essv2569535,essv2578702,essv2569648,essv2561717,essv2544616,essv2523618,essv2524557,essv2534909,essv2561062,essv2549287,essv2530953,essv2532901,essv2567843,essv2528940,essv2567579,essv2563660,essv2553202,essv2559293,essv2566716,essv2550889,essv2543428,essv2527875,essv2562375,essv2572938,essv2533570,essv2555760,essv2567206,essv2556070,essv2534241,essv2522392,essv2573591,essv2573316,essv2525808,essv2526789,essv2529544,essv2575480,essv2575356,essv2526489,essv2560683,essv2524188,essv2574746,essv2572896,essv2568641,essv2560497,essv2548086,essv2545716,essv2574167,essv2551308,essv2525169 M 157 66 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA07357,NA11831,NA11919,NA11992,NA11994,NA12044,NA12155,NA12287,NA12717,NA12776,NA12872,NA12873,NA12874,NA18489,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18520,NA18523,NA18526,NA18537,NA18555,NA18561,NA18562,NA18564,NA18573,NA18576,NA18577,NA18579,NA18582,NA18603,NA18605,NA18638,NA18853,NA18858,NA18870,NA18907,NA18909,NA18942,NA18944,NA18945,NA18947,NA18956,NA18959,NA18960,NA18964,NA18969,NA18980,NA19005,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19190,NA19210,NA19239,NA19240,NA19257 esv989383 16 7176254 7176378 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571301 S 3 0 1 RBFOX1 HuRef esv1152754 16 7176429 7176481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922660 S 2 0 1 RBFOX1 HuRef esv1617393 16 7176504 7176582 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803340 S 2 0 1 RBFOX1 HuRef nsv905292 16 7183100 7197763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516519 S 6533 0 1 RBFOX1 SP56849 esv994369 16 7186039 7186573 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586951 S 3 0 1 RBFOX1 HuRef nsv1728 16 7186459 7231400 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7230 S 9 0 1 RBFOX1 NA12156 esv25304 16 7201444 7202322 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21339 S 451 4 0 RBFOX1 NA18909,NA19147,NA19190,NA19225 esv34160 16 7204783 7236885 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 RBFOX1 esv28814 16 7303014 7303665 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17823 S 451 1 0 RBFOX1 NA11894 nsv1729 16 7334099 7378423 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2132 S 9 0 1 RBFOX1 NA18555 nsv520018 16 7345612 7411607 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681407,nssv700391,nssv704964,nssv660102 M 2026 0 4 RBFOX1 nsv457386 16 7345612 7419133 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534583 S 1557 0 1 RBFOX1 1780846005_A nsv827538 16 7361826 7363643 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425353 S 31 0 1 RBFOX1 AK2 nsv905293 16 7386473 7407490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598605 S 6533 0 1 RBFOX1 IS41305 nsv527093 16 7427533 7429077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703472 S 2026 0 1 RBFOX1 esv275330 16 7444671 7445890 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585394,essv2585174 M 1250 1 1 RBFOX1 esv270074 16 7481361 7481687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517377,essv2515417,essv2518098,essv2517869,essv2519467 M 157 5 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA07346,NA11918,NA12249,NA12872,NA12878 esv272564 16 7481361 7481687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581593 S 7 1 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA12878 nsv827539 16 7485900 7486742 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432453 S 31 1 0 RBFOX1 AK20 nsv905294 16 7523109 7532162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570378 S 6533 0 1 RBFOX1 IS31915 nsv507800 16 7557013 7563013 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620595,nssv617906,nssv623202,nssv619156 M 4 4 0 RBFOX1 CHM,NA10860,NA15510,NA18994 nsv524819 16 7588269 7588446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700814 S 2026 0 1 RBFOX1 esv267845 16 7628945 7629138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496299,essv2498563,essv2509266 M 157 3 0 Samples from several populations that are part of the HapMap project. RBFOX1 NA18511,NA18858,NA18909 nsv457387 16 7716125 7743018 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534584 S 1557 1 0 "" 1780854096_A esv272118 16 7736408 7736696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536779,essv2535392,essv2520419,essv2558452 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12249,NA12716,NA12750 dgv460n67 16 7749195 7751769 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827540,nsv827541 M 31 2 0 "" NA18947,NA18949 esv26143 16 7752326 7752848 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10545 S 451 2 0 "" NA19108,NA19129 esv21964 16 7762469 7764381 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16864 S 451 1 0 "" NA19099 esv275240 16 7789971 7793713 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585487 S 1250 0 1 "" nsv516474 16 7796213 7797802 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676987,nssv668588,nssv700192 M 2026 2 1 "" nsv518245 16 7796213 7803360 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695675 S 2026 1 0 "" nsv524014 16 7797802 7801209 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699874 S 2026 0 1 "" dgv803e1 16 7855056 7915358 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20445,esv1295 M 271 0 0 "" NA06994 nsv817720 16 7855056 7917529 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417073 S 112 0 1 "" NA06994 esv2506143 16 7864844 7865753 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267780 S 1 1 0 "" NA18507 nsv905295 16 7879543 8039416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586602 S 6533 1 0 "" IS37874 nsv513444 16 7888214 7888482 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625847 S 1 1 0 "" 1 esv1630563 16 7888371 7888371 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045116 S 2 1 0 "" HuRef esv2036076 16 8006444 8007122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917701 S 1 0 1 "" NA18507 esv998814 16 8006444 8007516 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563771 S 3 0 1 "" HuRef esv4070 16 8006560 8007024 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26511 S 1 0 1 Single Asian sample YH "" YH nsv905296 16 8042291 8136069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514480 S 6533 1 0 "" SP56004 nsv509595 16 8046158 8090541 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623684 S 4 1 0 "" NA18994 esv999860 16 8047043 8056420 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565555 S 3 0 1 "" HuRef nsv512422 16 8047222 8050379 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625014 S 1 0 1 "" 1 nsv1730 16 8052809 8078101 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5586 S 9 1 0 "" NA19129 esv25374 16 8061956 8064997 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14889 S 451 0 1 "" NA19129 esv1003383 16 8071515 8072353 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565743 S 3 1 0 "" HuRef dgv24n47 16 8071552 8071700 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499752,nsv499254 M 9 2 0 "" nsv473600 16 8071552 8071700 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558037 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19129 nsv507801 16 8080809 8086809 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620596,nssv617907,nssv619157 M 4 3 0 "" CHM,NA10860,NA15510 nsv905297 16 8116843 8524666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542875 S 6533 0 1 "" MS15925 nsv528029 16 8159755 8170014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704559 S 2026 0 1 "" nsv827543 16 8168511 8170401 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422978 S 31 0 1 "" NA18552 esv269709 16 8173607 8173692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519068 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv833134 16 8189177 8346262 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452267 S 95 1 0 "" nsv905298 16 8211103 8480732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601169 S 6533 0 1 "" IS41981 nsv905299 16 8212912 8342339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581508 S 6533 0 1 "" IS35605 nsv518113 16 8317168 8524666 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695527 S 2026 1 0 "" nsv820256 16 8324788 8325164 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418925 S 2 1 0 "" AK1 esv2530839 16 8357584 8358703 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285423 S 1 1 0 "" NA18507 esv273246 16 8358145 8358470 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580645,essv2579758 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270590 16 8358156 8358496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514808,essv2516543,essv2513874,essv2518940 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12814,NA19143,NA19239 nsv905300 16 8372143 8435410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577436 S 6533 0 1 "" IS34440 nsv905301 16 8394656 8423425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581547 S 6533 0 1 "" IS35622 nsv905302 16 8399230 8455709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557088,nssv1553766 M 6533 0 2 "" MS20286,MS22353 nsv103758 16 8402574 8402724 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122336 M 24 "" esv28784 16 8410341 8413946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14083 S 451 0 1 "" NA19099 nsv827544 16 8421099 8424144 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427877 S 31 0 1 "" AK8 esv26466 16 8423142 8424146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10349 S 451 0 1 "" NA12414 nsv827545 16 8423259 8424144 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430944 S 31 0 1 "" AK16 nsv905303 16 8423922 8555210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575342 S 6533 1 0 "" IS33712 dgv340n27 16 8435410 8567137 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457389,nsv457390,nsv457388 M 1557 3 0 TMEM114 HGDP00397,HGDP00407,HGDP00438 nsv526026 16 8436036 8443686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702256 S 2026 0 1 "" nsv905304 16 8439512 8467510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559643 S 6533 0 1 "" MS24073 nsv457391 16 8443686 8488151 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534588 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00125 nsv525484 16 8449241 8467510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701613 S 2026 0 1 "" nsv522494 16 8471585 8499502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705862 S 2026 0 1 "" esv269858 16 8475462 8475547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514501,essv2517402,essv2514748,essv2516524,essv2517898,essv2519350 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11918,NA12234,NA12814,NA12872 esv22976 16 8523778 8525834 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14225 S 451 1 0 "" NA19147 esv25283 16 8536635 8547182 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15102 S 451 0 1 "" NA18505 esv1941984 16 8554294 8554656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891457 S 1 0 1 "" NA18507 esv1544132 16 8554859 8554919 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599878 S 2 0 1 "" HuRef nsv905305 16 8569165 8650728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557615 S 6533 0 1 METTL22 MS22770 nsv905306 16 8571376 8623608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548462 S 6533 1 0 METTL22 MS17852 nsv512423 16 8595589 8599260 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625015 S 1 0 1 "" 1 esv993316 16 8595615 8596711 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586968 S 3 0 1 "" HuRef esv23517 16 8595739 8596923 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19433 S 451 0 1 "" NA19129 nsv827546 16 8623776 8624501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422200 S 31 1 0 METTL22 NA18997 esv1261959 16 8642250 8642250 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122232 S 2 1 0 METTL22 HuRef esv1322482 16 8647385 8647385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753640 S 2 1 0 METTL22 HuRef nsv103849 16 8651185 8652744 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122427 M 24 "" nsv517642 16 8662622 8663974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691378,nssv680082,nssv666297,nssv675635,nssv685204,nssv689285,nssv663372,nssv652656 M 2026 0 8 "" nsv457393 16 8662648 8747455 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534589 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABAT HGDP01071 esv28664 16 8663044 8664235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11949,esv17056 M 451 0 6 "" NA12004,NA12239,NA18508,NA18523,NA19099,NA19240 nsv827547 16 8663496 8664021 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432454 S 31 0 1 "" AK20 nsv523677 16 8671929 8687091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699481 S 2026 0 1 ABAT nsv905307 16 8671929 8803595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575857 S 6533 1 0 ABAT,PMM2,TMEM186 IS33830 nsv522342 16 8678687 8684618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695122 S 2026 0 1 ABAT nsv905308 16 8684618 8747417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513243 S 6533 1 0 ABAT SP55698 nsv522898 16 8687091 8770491 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698556 S 2026 1 0 ABAT nsv457394 16 8699413 8917714 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534590 S 1557 1 0 ABAT,CARHSP1,PMM2,TMEM186,USP7 1782681277_A dgv341n27 16 8726183 8865964 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457395,nsv457397 M 1557 2 0 ABAT,CARHSP1,PMM2,TMEM186 HGDP01063,HGDP01291 dgv2597n71 16 8742133 8816312 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905314,nsv905313,nsv905315,nsv905309 M 6533 4 0 ABAT,PMM2,TMEM186 IS41042,SP50743,SP51411,SP55355 dgv2598n71 16 8742317 8902915 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905316,nsv905310 M 6533 2 0 ABAT,CARHSP1,PMM2,TMEM186,USP7 IS31307,IS36103 nsv457398 16 8747455 8809912 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534594 S 1557 1 0 ABAT,PMM2,TMEM186 NINDS_146 nsv905311 16 8755173 8947820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564798 S 6533 1 0 ABAT,CARHSP1,PMM2,TMEM186,USP7 IS30300 nsv905312 16 8758148 8783030 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506680 S 6533 1 0 ABAT SP54389 dgv2599n71 16 8770491 8798075 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905317,nsv905319,nsv905318 M 6533 3 0 ABAT,TMEM186 MS20741,MS25870,MS26100 esv2385301 16 8773400 8773849 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756043 S 1 0 1 ABAT NA18507 nsv819097 16 8794033 8797492 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419546 S 2 0 1 TMEM186 AK1 nsv905320 16 8798075 8854537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589931 S 6533 1 0 CARHSP1,PMM2,TMEM186 IS38430 esv271413 16 8824928 8825213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510152,essv2508577,essv2502536,essv2503914 M 157 4 0 Samples from several populations that are part of the HapMap project. PMM2 NA07037,NA11829,NA12717,NA12750 esv1354772 16 8829173 8829173 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728252 S 2 1 0 PMM2 HuRef nsv521109 16 8830716 8891770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697791 S 2026 0 1 CARHSP1,PMM2 esv24810 16 8834298 8847201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17652 S 451 0 1 PMM2 NA19129 esv27013 16 8847308 8895784 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13431 S 451 2 0 CARHSP1,PMM2,USP7 NA18858,NA19129 nsv905321 16 8847651 8882558 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598530 S 6533 1 0 CARHSP1,PMM2 IS41042 nsv833135 16 8847810 9028458 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452268 S 95 0 1 CARHSP1,PMM2,USP7 esv1003092 16 8871409 8875089 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565314 S 3 0 1 "" HuRef nsv457399 16 8917714 8985113 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534595 S 1557 0 1 USP7 1780862415_A esv26318 16 8937130 8938352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18353 S 451 0 1 USP7 NA11993 nsv827548 16 8945357 8985490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437057 S 31 1 0 USP7 NA18542 esv987802 16 8952626 8952626 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570140 S 3 1 0 USP7 HuRef esv1715688 16 8952627 8952627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341310 S 2 1 0 USP7 HuRef dgv2600n71 16 8956611 9097025 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905323,nsv905322 M 6533 3 0 C16orf72,USP7 MS14330,SP81361,SP81437 nsv905324 16 8961432 9009889 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519587 S 6533 1 0 USP7 SP81097 nsv827549 16 8962702 8967550 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433266 S 31 1 0 USP7 NA18972 nsv457400 16 8975803 9097025 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534596 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf72 HGDP00776 nsv527498 16 8976412 8995885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703948 S 2026 0 1 "" nsv833136 16 8983772 9080198 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452270,nssv1452269 M 95 0 2 "" esv1244631 16 9033477 9033477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978176 S 2 1 0 "" HuRef nsv1731 16 9046621 9091522 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7231 S 9 0 1 "" NA12156 nsv525864 16 9072555 9214168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702061 S 2026 0 1 C16orf72 nsv457401 16 9097025 9150021 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534597 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf72 HGDP00515 nsv519065 16 9109471 9153948 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696537 S 2026 1 0 C16orf72 nsv457402 16 9112864 9147487 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534598 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf72 HGDP01071 dgv160n21 16 9126202 9147487 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524325,nsv528329 M 2026 0 2 "" esv268094 16 9129304 9129389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514901 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv2430740 16 9141594 9142194 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235420 S 1 1 0 "" NA18507 esv2529561 16 9157484 9159133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391695 S 1 0 1 "" NA18507 esv2169585 16 9157551 9158435 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869771 S 1 0 1 "" NA18507 nsv905325 16 9167191 9203038 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574973,nssv1556884 M 6533 2 0 "" IS33676,MS22251 nsv471079 16 9185095 9203038 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545270 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01398 nsv905326 16 9185096 9273860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527811 S 6533 1 0 MIR548X SP81006 dgv161n21 16 9192461 9210189 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518409,nsv522789 M 2026 0 2 "" nsv457403 16 9232588 9276197 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534599 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548X HGDP00535 esv2021475 16 9314315 9314744 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860162 S 1 0 1 "" NA18507 dgv2601n71 16 9391529 9453417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905327,nsv905329,nsv905328 M 6533 0 3 "" MS16343,SP50176,SP58008 esv2476566 16 9394974 9396384 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177694 S 1 0 1 "" NA18507 nsv526856 16 9528370 9531090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703214 S 2026 0 1 "" nsv905330 16 9534237 9574559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531493 S 6533 1 0 "" MS10491 esv2751617 16 9546629 9662313 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983294,essv6983295,essv6983296,essv6983297,essv6983298 M 771 1 0 "" BEC_636 esv259602 16 9575012 9575282 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394225,essv2393812 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv2602n71 16 9582809 9639981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905331,nsv905332 M 6533 0 2 "" SP55789,SP56380 dgv162n21 16 9624870 9691664 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525138,nsv527800 M 2026 0 2 "" dgv804e1 16 9721050 9729949 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1157,essv16170 M 271 0 0 "" NA18506 nsv518585 16 9772508 9783883 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696032 S 2026 0 1 GRIN2A esv1678363 16 9775317 9775388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011077 S 2 0 1 GRIN2A HuRef esv1747191 16 9850070 9850260 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679973 S 2 0 1 GRIN2A HuRef esv2422500 16 9915810 10323018 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161374 S 181 1 0 GRIN2A ND03587 nsv905333 16 9962962 9986625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517307 S 6533 0 1 GRIN2A SP57250 dgv805e1 16 9968477 10165051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv38,essv16631,essv17485 M 271 0 0 GRIN2A NA12762,NA19142 nsv905334 16 10036024 10095217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527315 S 6533 0 1 GRIN2A SP58328 esv2435196 16 10040860 10041583 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195980 S 1 1 0 GRIN2A NA18507 nsv513445 16 10041302 10041377 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625848 S 1 1 0 GRIN2A 1 esv1005648 16 10057627 10058680 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586975 S 3 0 1 GRIN2A HuRef esv271104 16 10060664 10060815 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2569269,essv2578852,essv2527028,essv2566906,essv2526515,essv2572711,essv2545903,essv2574132 M 157 8 0 Samples from several populations that are part of the HapMap project. GRIN2A NA18508,NA18510,NA18522,NA18853,NA19114,NA19143,NA19239,NA19240 esv274276 16 10060667 10060914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584621,essv2583411 M 7 2 0 Samples from several populations that are part of the HapMap project. GRIN2A NA19239,NA19240 nsv833138 16 10072644 10219549 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452271 S 95 0 1 GRIN2A nsv9345 16 10106939 10110128 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25735,nssv23309,nssv20140 M 31 3 0 Samples from several populations that are part of the HapMap project. GRIN2A NA12802,NA18517,NA19173 nsv525725 16 10113676 10114153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701889 S 2026 0 1 GRIN2A nsv905335 16 10132551 10172658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564012 S 6533 1 0 GRIN2A IS30143 nsv9346 16 10167420 10169621 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22233 S 31 1 0 Samples from several populations that are part of the HapMap project. GRIN2A NA07048 nsv457404 16 10231648 10265581 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534600 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00473 nsv471080 16 10231648 10275394 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545271,nssv545272 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00465,HGDP00473 dgv163n21 16 10265581 10268124 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526630,nsv518428 M 2026 0 2 "" esv3972 16 10269622 10270015 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26413 S 1 0 1 Single Asian sample YH "" YH nsv516246 16 10275394 10311911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681714,nssv692056,nssv667024 M 2026 0 3 "" nsv905336 16 10275413 10333629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591002 S 6533 0 1 "" IS38617 nsv1733 16 10315703 10349558 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2133 S 9 0 1 "" NA18555 nsv507802 16 10319913 10325913 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620597 S 4 1 0 "" NA15510 nsv521816 16 10320373 10328250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694588 S 2026 0 1 "" esv1422685 16 10321969 10321969 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853454 S 2 1 0 "" HuRef nsv498857 16 10322183 10330872 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585718 S 9 0 1 "" esv1350365 16 10322767 10322767 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788696 S 2 1 0 "" HuRef nsv905337 16 10363636 10483325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554457 S 6533 0 1 ATF7IP2 MS20813 esv260020 16 10384923 10385194 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401136,essv2398810,essv2399492,essv2397152,essv2394814,essv2399542 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA18582,NA18858,NA18951,NA19114,NA19137 esv1052631 16 10385050 10385050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687989 S 2 1 0 "" HuRef nsv519263 16 10388347 10467886 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686261,nssv663542,nssv693331,nssv655115,nssv692779 M 2026 3 2 ATF7IP2 nsv457405 16 10389813 10467886 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534601 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATF7IP2 HGDP00517 nsv905338 16 10415678 10476092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502176 S 6533 0 1 ATF7IP2 SP50725 nsv833139 16 10443731 10478711 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452272 S 95 0 1 ATF7IP2 nsv905339 16 10519488 10534771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499907,nssv1516741 M 6533 0 2 EMP2 SP50615,SP56926 nsv905340 16 10530396 10533623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514937 S 6533 0 1 EMP2 SP56100 nsv516716 16 10566397 10567387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693033,nssv671190,nssv670815,nssv690675,nssv681036,nssv682923,nssv676903,nssv670388,nssv680429 M 2026 0 9 EMP2 nsv528167 16 10566397 10570539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704716 S 2026 0 1 EMP2 nsv517056 16 10593713 10594694 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653700,nssv666895,nssv696489,nssv673747,nssv663474 M 2026 1 4 "" nsv905341 16 10600333 10626199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538699 S 6533 0 1 "" MS13770 esv1434518 16 10654246 10654246 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984787 S 2 1 0 TEKT5 HuRef nsv833140 16 10665371 10792855 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452273 S 95 0 1 FAM18A,NUBP1,TEKT5 nsv522111 16 10671946 10674800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694883 S 2026 0 1 TEKT5 nsv827550 16 10677985 10679218 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430945 S 31 0 1 TEKT5 AK16 esv5815 16 10678562 10679091 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28256 S 1 0 1 TEKT5 SJK esv1298043 16 10679100 10679100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100932 S 2 1 0 TEKT5 HuRef esv1671601 16 10684684 10684684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909732 S 2 1 0 TEKT5 HuRef nsv905342 16 10691982 10739156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533805 S 6533 0 1 TEKT5 MS11306 esv2594712 16 10698199 10719589 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167850 S 1 0 1 "" NA18507 nsv827551 16 10698665 10700302 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432455 S 31 1 0 "" AK20 esv2024084 16 10704268 10704867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549832 S 1 0 1 "" NA18507 esv1024193 16 10733074 10733074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769063 S 2 1 0 "" HuRef esv988489 16 10766114 10766219 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581380 S 3 0 1 NUBP1 HuRef esv2204919 16 10787871 10788309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926788 S 1 0 1 FAM18A NA18507 esv273506 16 10993868 10994000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579069 S 7 1 0 Samples from several populations that are part of the HapMap project. CLEC16A NA19239 esv270251 16 10993869 10994210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514565,essv2516693,essv2515414,essv2518510,essv2515097,essv2515593,essv2518002,essv2516043,essv2514495,essv2517635,essv2516199,essv2517290,essv2519421,essv2513610 M 157 14 0 Samples from several populations that are part of the HapMap project. CLEC16A NA07346,NA07347,NA11840,NA11881,NA12249,NA12287,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA18970 nsv103022 16 11041889 11048374 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121600 M 24 CLEC16A dgv2603n71 16 11078262 11119054 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905343,nsv905344 M 6533 0 2 CLEC16A IS30127,MS19159 nsv525548 16 11171357 11274090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701686 S 2026 0 1 CLEC16A,SOCS1,TNP2 nsv827552 16 11255644 11259042 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433267 S 31 1 0 SOCS1 NA18972 esv23744 16 11256545 11258445 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18939 S 451 0 1 SOCS1 NA19129 nsv510412 16 11273653 11279653 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621433 S 4 0 1 PRM2,PRM3 NA15510 esv1736680 16 11337373 11337373 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799208 S 2 1 0 "" HuRef nsv521106 16 11384842 11406673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697790 S 2026 0 1 "" nsv905345 16 11384842 11434679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546893 S 6533 0 1 "" MS17208 esv995410 16 11391300 11400442 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565582 S 3 0 1 "" HuRef nsv509596 16 11401412 11444087 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623685 S 4 1 0 "" NA18994 nsv519443 16 11413809 11426275 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656207,nssv676849,nssv672349,nssv657134 M 2026 0 4 "" esv25272 16 11417853 11418993 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12767 S 451 0 2 "" NA18505,NA19240 nsv520088 16 11434679 11481114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661677,nssv660623 M 2026 0 2 "" nsv457408 16 11450395 11465783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534603 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01271 nsv457409 16 11450395 11729567 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534604 S 1557 1 0 LITAF,SNN,TXNDC11 1780862066_A nsv524676 16 11476955 11703080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700647 S 2026 0 1 LITAF,SNN,TXNDC11 nsv905346 16 11481114 11548039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512429 S 6533 1 0 "" SP55509 esv29386 16 11511256 11512335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10099 S 451 0 3 "" NA18517,NA18861,NA19257 nsv827554 16 11528833 11529714 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434011 S 31 0 1 "" NA18526 esv991827 16 11586519 11594789 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563861 S 3 0 1 LITAF HuRef nsv511579 16 11589223 11596392 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626206 S 1 0 1 "" 1 esv2520526 16 11590523 11593434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331279 S 1 0 1 "" NA18507 esv2072418 16 11591111 11593006 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825506 S 1 0 1 "" NA18507 nsv512424 16 11591113 11592962 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625016 S 1 0 1 "" 1 esv26608 16 11591538 11592052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11655 S 451 0 2 "" NA18505,NA19257 nsv518767 16 11608309 11615072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696216 S 2026 0 1 "" nsv457410 16 11631856 11661955 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534605 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01211 esv22331 16 11669525 11670671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17396 S 451 0 1 SNN NA19129 nsv1734 16 11685919 11699876 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10077 S 9 1 0 TXNDC11 NA18956 nsv525726 16 11701568 11729567 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701890 S 2026 1 0 TXNDC11 esv21664 16 11773595 11775578 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15749,esv21287 M 451 0 3 ZC3H7A NA18505,NA19108,NA19257 nsv1735 16 11894464 11939098 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7233 S 9 0 1 GSPT1 NA12156 esv2651942 16 11909057 11910592 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193950 S 1 0 1 GSPT1 NA18507 esv2343500 16 11909644 11910320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660306 S 1 0 1 GSPT1 NA18507 esv7500 16 11909807 11910257 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29941 S 1 0 1 GSPT1 SJK nsv519892 16 11917282 11917945 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659331,nssv661602 M 2026 0 2 GSPT1 nsv524025 16 11917282 11924420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699887 S 2026 0 1 GSPT1 nsv905347 16 11917945 12150830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521224 S 6533 1 0 GSPT1,SNX29,TNFRSF17 SP52297 nsv527197 16 11978842 11981301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703596 S 2026 0 1 SNX29 nsv528952 16 12129565 12142378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705646 S 2026 0 1 SNX29 esv273120 16 12199696 12200030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584272,essv2583433 M 7 2 0 Samples from several populations that are part of the HapMap project. SNX29 NA19238,NA19240 esv1207869 16 12204813 12204813 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274646 S 2 1 0 SNX29 HuRef nsv905348 16 12207437 12265707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502906 S 6533 0 1 SNX29 SP51449 nsv833141 16 12222114 12395493 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452274,nssv1452275 M 95 2 0 SNX29 nsv516932 16 12270536 12270805 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684437,nssv655032 M 2026 2 0 SNX29 nsv905349 16 12316251 12353364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592972 S 6533 0 1 SNX29 IS39326 nsv827555 16 12320745 12337479 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436194 S 31 0 1 SNX29 NA18566 esv1672031 16 12324545 12324545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356950 S 2 1 0 SNX29 HuRef nsv1736 16 12385308 12430208 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7234 S 9 0 1 SNX29 NA12156 nsv520000 16 12421298 12430662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697171 S 2026 0 1 SNX29 esv1735749 16 12453728 12453728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975995 S 2 1 0 SNX29 HuRef nsv524986 16 12519977 12520191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701015 S 2026 0 1 SNX29 esv2751546 16 12542999 12582205 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983021,essv6989340,essv6989720 M 771 0 1 SNX29 BEC_535 nsv507803 16 12544386 12550386 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619158 S 4 1 0 SNX29 NA10860 esv29309 16 12548820 12550440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15370,esv16384 M 451 0 2 SNX29 NA18505,NA18909 nsv9348 16 12549915 12556691 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22577,nssv25757,nssv22927,nssv26596,nssv22822 M 31 0 5 Samples from several populations that are part of the HapMap project. SNX29 NA18517,NA18537,NA18563,NA18860,NA19007 dgv806e1 16 12554682 12561909 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8069,esv1379,essv9549,essv11308,essv8882,essv13966 M 271 0 0 SNX29 NA18861,NA18863,NA19160,NA19161,NA19171 nsv528018 16 12561151 12564822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704546 S 2026 0 1 SNX29 nsv9349 16 12563523 12582140 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22851,nssv20561,nssv23346,nssv26610,nssv25779 M 31 0 5 Samples from several populations that are part of the HapMap project. SNX29 NA12740,NA12872,NA18517,NA18860,NA19007 esv1005656 16 12564033 12566934 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586169 S 3 0 1 SNX29 HuRef esv23890 16 12564033 12566934 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14598 S 451 0 4 SNX29 NA18505,NA18508,NA18858,NA19114 nsv437802 16 12574577 12615795 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467683 S 60 0 1 Samples from several populations that are part of the HapMap project. SNX29 NA19194 nsv517039 16 12575148 12580895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659419,nssv652169,nssv679796,nssv680702,nssv679220,nssv654754,nssv694128,nssv672173,nssv676077,nssv671047,nssv672587,nssv653663,nssv692749,nssv700964,nssv669929 M 2026 0 15 SNX29 dgv342n27 16 12576133 12580363 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457412,nsv457413 M 1557 0 2 "" HGDP01033,NINDS_163 nsv523735 16 12576836 12583348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699551 S 2026 0 1 "" esv27554 16 12578540 12642058 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18787,esv20204,esv20582,esv11602,esv14036,esv18351,esv18422,esv10247,esv11546 M 451 7 8 "" NA11894,NA12004,NA12489,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18907,NA18909,NA18916,NA19190,NA19240 nsv457414 16 12579625 12581598 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534608 S 1557 1 0 "" NINDS_106 dgv343n27 16 12579841 12582463 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457415,nsv457416,nsv457417 M 1557 0 3 "" HGDP00795,HGDP01300,NINDS_227 nsv457419 16 12579853 12584030 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534613 S 1557 0 1 "" 1780862403_A nsv9350 16 12582140 12585680 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27688 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv807e1 16 12584246 12619700 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv884,essv17353,essv8037,essv12880 M 271 0 0 "" NA18502,NA18517,NA19103 nsv507804 16 12584480 12590480 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623203 S 4 1 0 "" NA18994 nsv9351 16 12588878 12615543 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26309,nssv25801 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517 nsv471081 16 12592501 12604712 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545273 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00628 nsv905350 16 12592501 12611641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532577,nssv1558188 M 6533 0 2 "" MS10777,MS23152 nsv517216 16 12592501 12613849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669190,nssv698408,nssv704493,nssv670471,nssv662319,nssv663699,nssv698901,nssv665264,nssv702133,nssv679113,nssv692538,nssv654036,nssv670045,nssv690068 M 2026 0 14 "" nsv433297 16 12592501 12613937 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463178 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 dgv808e1 16 12592528 12619700 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8655,essv8993,essv11407,essv11484 M 271 0 0 "" NA18856,NA19101,NA19192,NA19194 esv2421452 16 12598360 12614014 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5115457,essv5127752,essv5099993,essv5105258,essv5120403,essv5127181,essv5093214,essv5128032,essv5062058,essv5085727,essv5008245,essv5115830,essv5113998,essv5155367,essv5095702,essv5114307,essv5119962 M 1184 0 17 "" NA18500,NA18515,NA18517,NA18857,NA19101,NA19103,NA19190,NA19192,NA19194,NA19213,NA19215,NA19236,NA19237,NA19346,NA19391,NA19471,NA19982 dgv809e1 16 12599033 12615904 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15950,essv13345 M 271 0 0 "" NA18500,NA18515 nsv817721 16 12599154 12613849 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416501,nssv1416404,nssv1416500,nssv1418510,nssv1418511,nssv1416406 M 112 0 6 "" NA18515,NA18517,NA18856,NA18857,NA19192,NA19194 nsv457420 16 12599294 12604712 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534614 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00628 nsv457421 16 12600847 12611981 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534615 S 1557 0 1 "" NINDS_180 nsv905351 16 12604712 12628689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589486 S 6533 0 1 "" IS38371 nsv442709 16 12607660 12614014 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv471083 16 12611641 12621895 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545274 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00052 nsv457422 16 12613431 12618526 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534616 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00052 nsv9352 16 12617545 12618694 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22486,nssv23337 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA19173 nsv521843 16 12629022 12636088 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694616 S 2026 0 1 "" nsv905352 16 12662704 12687941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596276,nssv1592982 M 6533 0 2 CPPED1 IS39330,IS40475 dgv115e55 16 12725421 12799537 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751547,esv2751548 M 771 0 2 CPPED1 BEC_177,BEC_717 nsv525286 16 12734286 12786093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701391 S 2026 0 1 CPPED1 esv2751549 16 12736507 12787947 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982260,essv6982259 M 771 0 1 CPPED1 BEC_408 esv1004863 16 12810239 12819937 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563454 S 3 0 1 "" HuRef nsv833142 16 12830073 13006922 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452276,nssv1452277 M 95 0 2 SHISA9 nsv827556 16 12830346 12837817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439988 S 31 0 1 "" NA18537 nsv827557 16 12901522 12905264 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433268 S 31 1 0 SHISA9 NA18972 nsv1737 16 12923764 12968392 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4640 S 9 0 1 SHISA9 NA19129 esv275394 16 13033972 13037775 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585869 S 1250 0 1 SHISA9 nsv511565 16 13199155 13204849 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626191 S 1 0 1 SHISA9 1 esv1009468 16 13199577 13199654 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577162 S 3 0 1 SHISA9 HuRef esv1257667 16 13199641 13199719 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880496 S 2 0 1 SHISA9 HuRef esv2453404 16 13201367 13204673 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254475 S 1 0 1 SHISA9 NA18507 esv1005806 16 13201463 13204050 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563558 S 3 0 1 SHISA9 HuRef esv2365778 16 13201798 13204173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673574 S 1 0 1 SHISA9 NA18507 esv22866 16 13201846 13204019 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18560 S 451 15 3 SHISA9 NA11894,NA11931,NA12004,NA12044,NA12156,NA12239,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18517,NA19099,NA19108,NA19147,NA19190,NA19257 nsv827558 16 13201846 13204475 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433269,nssv1440682,nssv1430483,nssv1439303,nssv1426160,nssv1439989 M 31 0 6 SHISA9 AK4,NA18537,NA18564,NA18947,NA18972,NA18973 nsv820320 16 13201846 13204585 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421161 S 1 0 1 SHISA9 NA10851 nsv512425 16 13201877 13204084 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625017 S 1 0 1 SHISA9 1 nsv819710 16 13201914 13204509 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419452 S 2 1 0 SHISA9 AK1 dgv461n67 16 13201941 13204015 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827559,nsv827560 M 31 4 0 SHISA9 AK8,NA18526,NA18547,NA18566 esv9240 16 13201960 13203994 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31681 S 1 0 1 SHISA9 SJK nsv1738 16 13219556 13222038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2948 S 9 1 0 SHISA9 NA18555 nsv521045 16 13265389 13271756 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686661,nssv680668 M 2026 0 2 "" nsv905353 16 13300082 13335219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503363 S 6533 1 0 "" SP52039 nsv519404 16 13339855 13365215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696835 S 2026 0 1 "" nsv507805 16 13425866 13431866 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623204,nssv617908,nssv619159,nssv620598 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv270869 16 13453716 13453801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516509 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv905354 16 13525219 13717292 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591217 S 6533 1 0 "" IS38652 nsv833143 16 13580817 13736820 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452278 S 95 1 0 "" esv259538 16 13681530 13681988 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394209,essv2393700,essv2394356 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19240 esv1216694 16 13681875 13681875 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193180 S 2 1 0 "" HuRef nsv103328 16 13803374 13803439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121906 M 24 "" esv1003662 16 13851837 13851940 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567508 S 3 0 1 "" HuRef esv1689149 16 13851837 13851941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3898936 S 2 0 1 "" HuRef nsv528904 16 13978754 14005641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705588 S 2026 0 1 "" esv1996315 16 13982940 13983408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791329 S 1 0 1 "" NA18507 esv5099 16 13983087 13983301 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27540 S 1 0 1 Single Asian sample YH "" YH nsv457423 16 14005641 14078070 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534617 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MKL2 HGDP00080 nsv827561 16 14068724 14070048 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440683 S 31 0 1 "" NA18564 nsv520888 16 14140977 14147804 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683976,nssv677021,nssv681215 M 2026 3 0 MKL2 esv274988 16 14153315 14157957 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585545,essv2585111 M 1250 1 1 MKL2 esv275519 16 14244319 14245917 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585200 S 1250 0 1 MKL2 nsv905355 16 14287432 14378729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543685 S 6533 0 1 MIR193B,MIR365-1 MS16153 nsv103832 16 14317426 14318627 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122410 M 24 "" nsv1739 16 14339141 14379988 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7235 S 9 0 1 "" NA12156 nsv471084 16 14362021 14391043 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545275 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00620 esv993523 16 14362474 14368468 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563652 S 3 0 1 "" HuRef nsv527007 16 14369798 14372157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703382 S 2026 0 1 "" nsv512426 16 14376517 14378457 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625018 S 1 0 1 "" 1 nsv436212 16 14406638 14413788 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465529 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv269138 16 14406781 14406866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518589 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv2524466 16 14407128 14411769 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367748 S 1 0 1 "" NA18507 esv2226703 16 14407154 14412869 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582526 S 1 0 1 "" NA18507 esv25279 16 14407244 14413177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12616 S 451 0 2 "" NA18505,NA18907 dgv810e1 16 14529556 14783012 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8105,essv17149 M 271 0 0 BFAR,PARN,PLA2G10 NA19171,NA19206 dgv811e1 16 14529556 15274051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6594,esv375 M 271 0 0 ABCC6P2,BFAR,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,NOMO1,NPIP,NTAN1,PARN,PDXDC1,PLA2G10,RRN3 NA18621 esv271073 16 14560914 14560999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514230 S 157 1 0 Samples from several populations that are part of the HapMap project. PARN NA12874 nsv833144 16 14588657 14815008 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452279,nssv1452281,nssv1452280,nssv1452282,nssv1452283 M 95 5 0 BFAR,PARN,PLA2G10 nsv905356 16 14617455 15032942 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592702 S 6533 1 0 ABCC6P2,BFAR,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PARN,PDXDC1,PLA2G10 IS39243 nsv1740 16 14655664 14771096 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4195,nssv1292 M 9 0 2 BFAR,PLA2G10 NA12878,NA19240 essv16469 16 14662503 14783012 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BFAR,PLA2G10 NA19139 dgv812e1 16 14662503 15133811 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11187,essv10949,essv22594,essv4287,essv22950,essv13932,essv16011,essv406,essv3470 M 271 0 0 ABCC6P2,BFAR,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1,PLA2G10,RRN3 NA07348,NA07357,NA18501,NA18603,NA18854,NA18971,NA18992,NA19209,NA19211 nsv905357 16 14667269 14897345 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600832 S 6533 1 0 ABCC6P2,BFAR,NOMO1,PLA2G10 IS41927 nsv821150 16 14684902 14772592 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421162 S 1 0 1 PLA2G10 NA10851 esv1008243 16 14689622 14710057 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586235 S 3 1 0 PLA2G10 HuRef esv28787 16 14689682 14772509 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19409,esv13852 M 451 12 1 PLA2G10 NA06985,NA12239,NA18502,NA18517,NA18523,NA18858,NA18861,NA18907,NA19114,NA19129,NA19147,NA19190,NA19225 nsv9353 16 14692801 14710578 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26162,nssv25844,nssv20591,nssv25645,nssv23423,nssv26623,nssv22956,nssv24014,nssv22516,nssv23365,nssv26326,nssv20872,nssv23821,nssv25016,nssv22654,nssv25823 M 31 9 5 Samples from several populations that are part of the HapMap project. PLA2G10 NA10839,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18860,NA18942,NA18972,NA19132,NA19173 nsv510676 16 14710000 14833590 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618931 S 4 0 1 ABCC6P2 NA10860 nsv511045 16 14710000 15382708 OTHER Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618625,nssv622415,nssv621635 M 4 0 0 ABCC6P2,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 CHM,NA10860,NA15510 nsv7277 16 14727039 15361518 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9522,nssv10945,nssv9523,nssv10946,nssv10947,nssv5588,nssv1294,nssv10078,nssv1295,nssv10079,nssv10080,nssv6660,nssv5587,nssv2134 M 9 0 0 ABCC6P2,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 NA12156,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 esv1008242 16 14730745 14749398 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586097 S 3 1 0 "" HuRef nsv9354 16 14731918 14749700 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23848,nssv23451,nssv23479,nssv25865,nssv22684,nssv25886,nssv20902,nssv26343,nssv20621,nssv22546,nssv22985,nssv25667,nssv25041,nssv26211,nssv26636,nssv24041 M 31 9 5 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18860,NA18942,NA18972,NA19132,NA19173 dgv813e1 16 14789257 15133811 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3205,essv1896,essv1395,essv6739,essv3167,essv2994,essv8793,essv7535,essv6954,essv7270,essv7397,essv435,essv2870,essv7215 M 271 0 0 ABCC6P2,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 NA18508,NA18545,NA18547,NA18562,NA18582,NA18592,NA18623,NA18952,NA18953,NA18974,NA18976,NA18981,NA19007,NA19012 esv32598 16 14817728 15032941 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93857,essv95104,essv98215,essv97893,essv99115,essv92816,essv96163,essv100392,essv98344 M 51 9 0 ABCC6P2,MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PDXDC1 21634,21721,21772,21837,21938,21944,22007,22300,22352 nsv509597 16 14833590 14892928 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623686 S 4 1 0 NOMO1 NA18994 nsv471383 16 14835144 14897514 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548120,nssv548119,nssv548121 M 3 NOMO1 dgv2604n71 16 14846194 15023657 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905360,nsv905359,nsv905358,nsv905364,nsv905363 M 6533 6 0 MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PDXDC1 MS18251,MS25814,SP52439,SP57226,SP57553,SP81203 nsv433435 16 14862008 14962366 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463316 S 9 1 0 Samples from several populations that are part of the HapMap project. MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP NA12156 nsv103370 16 14875360 14875435 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121948 M 24 NOMO1 nsv905361 16 14880481 15089028 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580708 S 6533 1 0 MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 IS35436 nsv905362 16 14884380 15002571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500977 S 6533 0 1 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PDXDC1 SP51109 esv994412 16 14895293 14912313 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586558 S 3 1 0 MIR3179-1,MIR3179-2,MIR3179-3,NOMO1 HuRef nsv9355 16 14896075 14929566 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27696,nssv22880,nssv21924,nssv22821,nssv22576,nssv22713,nssv25689,nssv23013,nssv22909,nssv23041 M 31 2 6 Samples from several populations that are part of the HapMap project. MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1 NA10839,NA18537,NA18552,NA18972,NA18975,NA18980,NA19007,NA19221 dgv814e1 16 14896111 15105859 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7082,essv17489,essv2498,essv6726,essv2261,essv1594,essv236,essv1125 M 271 0 0 MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 NA12762,NA18537,NA18608,NA18942,NA18948,NA18964,NA18966,NA19003 essv12354 16 14896111 15274051 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR3180-4,NOMO1,NPIP,NTAN1,PDXDC1,RRN3 NA19138 nsv499081 16 14896114 14938875 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585513 S 9 0 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP esv22206 16 14896148 14949930 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12136,esv13620,esv11447 M 451 2 2 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP NA11894,NA12239,NA12776,NA19190 nsv442710 16 14897364 15016088 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR1972-1,MIR1972-2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO1,NPIP,PDXDC1 nsv136 16 14898879 14973293 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv136 S 1 0 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NPIP NA15510 dgv2n1 16 14901376 15010521 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis nsv137,nsv138 M 1 0 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NPIP,PDXDC1 NA15510 dgv2605n71 16 14913426 15032942 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905366,nsv905368,nsv905365,nsv905367 M 6533 14 0 MIR1972-1,MIR1972-2,NPIP,PDXDC1 SP50783,SP51108,SP51260,SP51486,SP52175,SP52470,SP53044,SP53342,SP53719,SP54622,SP55265,SP55279,SP57199,SP57873 nsv819280 16 14916292 15032663 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418774 S 2 0 1 MIR1972-1,MIR1972-2,NPIP,PDXDC1 AK1 nsv499138 16 14918536 15031764 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585514 S 9 0 0 MIR1972-1,MIR1972-2,NPIP,PDXDC1 nsv905369 16 14929487 15041876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599851 S 6533 0 1 MIR1972-1,MIR1972-2,NPIP,NTAN1,PDXDC1 IS41802 esv2631582 16 14929547 15027619 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220328 S 1 1 0 MIR1972-1,MIR1972-2,NPIP,PDXDC1 NA18507 nsv9356 16 14932517 14941163 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27704 S 31 1 0 Samples from several populations that are part of the HapMap project. NPIP NA19221 nsv471384 16 14938801 14953432 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548123,nssv548125,nssv548124 M 3 NPIP nsv905370 16 14948604 15032942 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501327,nssv1506809,nssv1506489,nssv1502911,nssv1516672,nssv1512144,nssv1504614,nssv1509121,nssv1500427,nssv1513418,nssv1516547,nssv1507357,nssv1517396,nssv1501797 M 6533 14 0 MIR1972-1,MIR1972-2,NPIP,PDXDC1 SP50148,SP50695,SP50977,SP51449,SP52661,SP54356,SP54406,SP54535,SP54750,SP55310,SP55750,SP56856,SP56887,SP57269 dgv2606n71 16 14948604 15111705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905371,nsv905372 M 6533 0 2 MIR1972-1,MIR1972-2,NPIP,NTAN1,PDXDC1,RRN3 MS18658,SP52868 dgv2607n71 16 14948604 15111705 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905375,nsv905373 M 6533 4 0 MIR1972-1,MIR1972-2,NPIP,NTAN1,PDXDC1,RRN3 IS40373,MS16107,MS20471,SP54117 nsv905374 16 14948604 15311212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529479 S 6533 1 0 MIR1972-1,MIR1972-2,MIR3180-4,NPIP,NTAN1,PDXDC1,RRN3 SP81553 nsv9357 16 14955356 15033246 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20932,nssv25066,nssv26359,nssv26649,nssv25741,nssv22850,nssv22938,nssv23099,nssv21954,nssv25907,nssv22398 M 31 0 11 Samples from several populations that are part of the HapMap project. MIR1972-1,MIR1972-2,PDXDC1 NA18502,NA18504,NA18517,NA18537,NA18564,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007 dgv462n67 16 14955977 15031593 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827566,nsv827565,nsv827563,nsv827562,nsv827567 M 31 18 0 MIR1972-1,MIR1972-2,PDXDC1 AK18,AK2,AK4,AK6,NA18526,NA18542,NA18552,NA18564,NA18570,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821043 16 14955977 15032611 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421163 S 1 1 0 MIR1972-1,MIR1972-2,PDXDC1 NA10851 esv1004883 16 14956169 15030295 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586157 S 3 1 0 MIR1972-1,MIR1972-2,PDXDC1 HuRef esv29939 16 14956177 14997419 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84178 S 3 1 0 PDXDC1 WATSON esv23670 16 14956228 15031593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17354 S 451 0 2 MIR1972-1,MIR1972-2,PDXDC1 NA11894,NA19190 nsv514792 16 14958373 14961302 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627159 S 1414 0 0 "" dgv11n31 16 14966820 15039053 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471385,nsv471532 M 3 MIR1972-1,MIR1972-2,PDXDC1 nsv482191 16 14976334 15039053 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558552 S 1 1 0 MIR1972-1,MIR1972-2,PDXDC1 KB1 dgv2608n71 16 14977368 15111705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905378,nsv905376,nsv905379 M 6533 0 5 MIR1972-1,MIR1972-2,NTAN1,PDXDC1,RRN3 IS34803,IS38486,MS11002,MS11652,MS18510 nsv514793 16 14999403 15007845 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627160 S 1414 0 0 PDXDC1 nsv905377 16 15003276 15089028 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590575 S 6533 1 0 MIR1972-1,MIR1972-2,NTAN1,PDXDC1,RRN3 IS38535 nsv905380 16 15003276 15222551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522497 S 6533 1 0 MIR1972-1,MIR1972-2,MIR3180-4,NTAN1,PDXDC1,RRN3 SP53154 nsv514794 16 15008083 15010605 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627161 S 1414 0 0 PDXDC1 nsv509598 16 15026758 15068695 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623687 S 4 1 0 NTAN1,PDXDC1,RRN3 NA18994 dgv344n27 16 15032942 15076261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457425,nsv457424 M 1557 0 2 NTAN1,PDXDC1,RRN3 1780862015_A,HGDP00005 nsv457426 16 15032942 15076261 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534620 S 1557 1 0 NTAN1,PDXDC1,RRN3 1782681079_A dgv815e1 16 15039073 15274051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16417,essv5094 M 271 0 0 MIR3180-4,NTAN1,RRN3 NA18577,NA19139 esv270464 16 15061387 15061472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517142 S 157 1 0 Samples from several populations that are part of the HapMap project. RRN3 hapmap_pooled_sample_set dgv2609n71 16 15076261 15366675 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905383,nsv905382 M 6533 2 0 MIR3180-4,RRN3 IS39243,IS41956 esv1168353 16 15105828 15105899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248744 S 2 0 1 "" HuRef nsv9359 16 15122434 15163059 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27711,nssv25763,nssv22967,nssv22606,nssv20651 M 31 2 3 Samples from several populations that are part of the HapMap project. MIR3180-4 NA12872,NA18552,NA18972,NA19007,NA19221 esv2602193 16 15129195 15145275 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288672 S 1 0 1 "" NA18507 esv26385 16 15132881 15133536 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13396 S 451 0 1 "" NA19108 esv21621 16 15148774 15162963 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12189 S 451 0 2 MIR3180-4 NA12828,NA19190 nsv905384 16 15179672 15334389 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566971 S 6533 1 0 "" IS31039 nsv833145 16 15202458 15407666 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452284,nssv1452287,nssv1452286,nssv1452285,nssv1452290,nssv1452289,nssv1452288 M 95 7 0 MPV17L nsv9360 16 15233376 15236238 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25785 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv435664 16 15248552 18199318 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465530 S 2 0 1 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 NA15510 nsv905385 16 15262883 15398985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541889 S 6533 1 0 MPV17L MS15525 nsv833146 16 15316547 15425383 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452293,nssv1452291,nssv1452292 M 95 3 0 MPV17L esv27929 16 15361751 15388979 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17993 S 451 1 0 "" NA12239 nsv905386 16 15369798 15560731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521031 S 6533 1 0 C16orf45,MPV17L SP51387 dgv2610n71 16 15369798 15780110 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905387,nsv905388 M 6533 2 0 C16orf45,KIAA0430,MIR484,MPV17L,MYH11,NDE1 MS20471,SP54117 nsv457428 16 15387380 18072544 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534621 S 1557 1 0 ABCC1,ABCC6,C16orf45,FOPNL,KIAA0430,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,MIR484,MPV17L,MYH11,NDE1,NOMO3,PKD1P1,XYLT1 1780862014_A nsv1741 16 15388997 15418202 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10081 S 9 1 0 MPV17L NA18956 nsv833147 16 15445744 15611619 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452294 S 95 0 1 C16orf45,KIAA0430 nsv827568 16 15457032 15457513 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429439,nssv1428675 M 31 0 2 C16orf45 AK10,AK12 nsv510677 16 15498234 15565863 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620089 S 4 0 1 C16orf45 NA15510 nsv469626 16 15601000 15767810 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649551 M 265 0 3 Samples from several populations that are part of the HapMap project. KIAA0430,MIR484,MYH11,NDE1 nsv819327 16 15612268 15612927 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419045 S 2 0 1 KIAA0430 AK1 nsv827569 16 15653501 15655169 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431669 S 31 0 1 NDE1 AK18 nsv9361 16 15711487 15721179 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27718,nssv26405 M 31 2 0 Samples from several populations that are part of the HapMap project. MYH11,NDE1 NA18502,NA19221 nsv905398 16 15743316 15762985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515478 S 6533 1 0 MYH11 SP56200 esv1985052 16 15776550 15777016 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548663 S 1 0 1 MYH11 NA18507 esv995232 16 15776766 15776815 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577535 S 3 0 1 MYH11 HuRef esv1484275 16 15776770 15776820 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637447 S 2 0 1 MYH11 HuRef nsv905399 16 15796225 15848526 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521032 S 6533 1 0 MYH11 SP51387 dgv2614n71 16 15796225 15956088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905400,nsv905401 M 6533 2 0 ABCC1,FOPNL,MYH11 IS38168,SP54117 nsv1742 16 15807153 15838779 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10083 S 9 1 0 MYH11 NA18956 nsv833149 16 15816904 15981312 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452297,nssv1452296,nssv1452295 M 95 0 3 ABCC1,FOPNL,MYH11 nsv905402 16 15817551 16069429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553986 S 6533 1 0 ABCC1,FOPNL,MYH11 MS20471 nsv471085 16 15848526 15933251 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545280,nssv545279,nssv545278,nssv545277,nssv545281,nssv545283,nssv545282 M 443 7 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOPNL,MYH11 HGDP00906,HGDP00907,HGDP00911,HGDP00928,HGDP00941,HGDP01201,HGDP01202 esv22836 16 15855649 15858644 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10893,esv17275 M 451 28 0 MYH11 NA07037,NA11894,NA11993,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv2615n71 16 15881106 15933251 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905404,nsv905403 M 6533 3 0 FOPNL IS34083,IS34184,IS37503 esv23840 16 15883340 15931383 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18889,esv17790 M 451 1 1 FOPNL NA18502,NA18858 esv2421345 16 15883514 15933164 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5069718,essv5100430,essv5121340,essv5097487,essv5004662,essv5042318,essv5138911,essv5022088,essv5066800,essv5016171,essv5047221,essv5048106,essv5012814,essv5020026,essv5131132,essv5108281,essv5050752,essv5061064,essv5006279,essv5093244,essv5046575,essv5007756,essv5044744,essv5028858,essv5038025,essv5130758 M 1184 26 0 FOPNL NA18500,NA19095,NA19097,NA19101,NA19103,NA19122,NA19123,NA19210,NA19211,NA19213,NA19215,NA19235,NA19324,NA19360,NA19385,NA19404,NA19440,NA19467,NA20287,NA20342,NA20343,NA21391,NA21417,NA21425,NA21578,NA21596 dgv345n27 16 15885233 15933251 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457430,nsv457433,nsv457435,nsv457431,nsv457434 M 1557 5 0 FOPNL HGDP00906,HGDP00907,HGDP00911,HGDP00928,HGDP00941 nsv514795 16 15885259 15885654 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628250 S 1414 1 0 FOPNL nsv457432 16 15887748 15913069 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534625 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOPNL HGDP01202 nsv457436 16 15887748 15956088 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534629 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC1,FOPNL HGDP01201 nsv442391 16 15888009 15931537 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FOPNL nsv905405 16 15898950 15988624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521033 S 6533 1 0 ABCC1 SP51387 nsv817722 16 15908585 15913069 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415793 S 112 0 1 "" NA12875 esv34006 16 15940440 16178351 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ABCC1,ABCC6 dgv2616n71 16 15968495 16259018 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905410,nsv905408,nsv905409,nsv905406 M 6533 4 0 ABCC1,ABCC6,NOMO3 MS10121,MS23577,SP54117,SP81363 nsv1745 16 15976266 15982046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9524 S 9 1 0 ABCC1 NA18507 esv28545 16 15978895 15984879 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14866 S 451 0 2 ABCC1 NA19099,NA19225 nsv442392 16 15979352 15985377 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABCC1 nsv905407 16 15997855 16062604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572544 S 6533 1 0 ABCC1 IS33129 esv2399145 16 16004443 16004875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844513 S 1 0 1 ABCC1 NA18507 esv1033070 16 16027838 16027838 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165209 S 2 1 0 ABCC1 HuRef nsv905411 16 16076109 16113002 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578386 S 6533 0 1 ABCC1 IS34768 nsv905412 16 16077067 16100661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552265 S 6533 0 1 ABCC1 MS19303 dgv816e1 16 16092718 16304613 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6617,essv8806 M 271 0 0 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,NOMO3 NA18508,NA18621 dgv817e1 16 16092718 16831289 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3196,essv11129,essv2822,essv3452,essv1843,essv16077,essv22582,essv22948,essv4156,essv6760,essv7565,essv22408,essv10944,essv4295,esv810,essv322,essv2311,essv2044,essv453,essv7370,essv7729,essv3862 M 271 0 0 ABCC1,ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 NA07348,NA07357,NA10861,NA18501,NA18545,NA18555,NA18562,NA18570,NA18603,NA18633,NA18940,NA18949,NA18952,NA18971,NA18974,NA18976,NA18987,NA18992,NA18994,NA19209,NA19211 dgv2617n71 16 16094970 16143505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905416,nsv905413 M 6533 0 2 ABCC1 MS17085,SP50086 nsv905414 16 16104340 16225138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556853 S 6533 0 1 ABCC1,ABCC6 MS22227 nsv905415 16 16104340 16269920 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528491 S 6533 1 0 ABCC1,ABCC6,NOMO3 SP81251 nsv905417 16 16109386 16197033 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553987 S 6533 1 0 ABCC1,ABCC6 MS20471 dgv2618n71 16 16123392 16215852 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905420,nsv905422,nsv905418 M 6533 3 0 ABCC1,ABCC6 IS31445,IS41754,SP51387 nsv457437 16 16128359 16197033 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534630 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC1,ABCC6 HGDP00515 nsv469785 16 16129096 16285870 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649806 M 265 1 2 Samples from several populations that are part of the HapMap project. ABCC1,ABCC6,NOMO3 nsv905419 16 16133472 16188508 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593679 S 6533 1 0 ABCC1,ABCC6 IS39475 nsv905421 16 16137912 16168752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522562 S 6533 1 0 ABCC1,ABCC6 SP53252 nsv905423 16 16153665 16170073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525947 S 6533 0 1 ABCC6 SP56903 esv27065 16 16167846 16169141 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17592 S 451 1 0 ABCC6 NA19114 esv1081882 16 16169612 16169612 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995613 S 2 1 0 ABCC6 HuRef esv1100706 16 16173624 16173693 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291822 S 2 0 1 ABCC6 HuRef esv33614 16 16192414 16742637 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101435,essv98879,essv101273,essv101186,essv93865,essv93794,essv93812,essv100965,essv95076,essv95100,essv98198,essv94704,essv94826,essv94043,essv93989,essv97958,essv97882,essv97807,essv95526,essv93071,essv93040,essv95338,essv97358,essv101644,essv95866,essv94543,essv98987,essv98957,essv92859,essv92878,essv92693,essv92776,essv93628,essv93761,essv96101,essv96113,essv97169,essv95954,essv95992,essv93535,essv93378,essv94863,essv94875,essv92608,essv96544,essv96525,essv96484,essv97709,essv97744,essv100276,essv100170,essv100584,essv100293,essv98421 M 51 17 32 ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 21603,21606,21618,21634,21693,21721,21772,21791,21802,21837,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22075,22127,22128,22170,22231,22233,22261,22278,22286,22298,22300,22352 nsv905424 16 16197033 16767302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592704 S 6533 1 0 ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 IS39243 nsv428319 16 16221327 16831289 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452957 S 62 0 1 ABCC6,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 HGDP00473 nsv905425 16 16259018 16434114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533175 S 6533 1 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 MS11032 dgv818e1 16 16260667 16653145 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv197,essv6426,essv6062,essv499,essv7468 M 271 0 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 NA18545,NA18603,NA18633,NA18952,NA18994 nsv509599 16 16291579 16428109 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619681,nssv621021 M 4 2 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 NA10860,NA15510 nsv9362 16 16292396 16293573 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23894,nssv23507 M 31 0 2 Samples from several populations that are part of the HapMap project. NOMO3 NA19144,NA19173 nsv9363 16 16294729 16316579 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22636,nssv22879,nssv22996,nssv25807,nssv23127 M 31 0 5 Samples from several populations that are part of the HapMap project. MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3 NA18537,NA18552,NA18972,NA18980,NA19007 esv28069 16 16294811 16404187 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16365,esv18646,esv18099,esv16364 M 451 7 2 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO3,PKD1P1 NA12004,NA12239,NA12776,NA18505,NA18907,NA19099,NA19114,NA19190,NA19240 nsv820818 16 16309940 16404187 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421164 S 1 0 1 MIR3180-1,MIR3180-2,MIR3180-3,PKD1P1 NA10851 nsv905426 16 16324781 16357821 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534267 S 6533 1 0 PKD1P1 MS11497 dgv2619n71 16 16324781 16400576 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905428,nsv905427 M 6533 2 0 PKD1P1 IS33192,IS34185 dgv2620n71 16 16326995 16739915 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905440,nsv905433,nsv905429,nsv905432,nsv905430,nsv905435,nsv905439 M 6533 7 0 PKD1P1 IS40475,MS10378,MS16308,MS22166,MS25814,SP54030,SP55842 nsv1746 16 16349901 16375507 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4196 S 9 1 0 PKD1P1 NA12878 esv1010980 16 16356583 16376306 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586218 S 3 0 1 "" HuRef nsv905431 16 16357821 16470870 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581269 S 6533 1 0 "" IS35549 nsv9364 16 16363092 16372502 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20962,nssv20681,nssv24957 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA18942,NA19240 dgv2621n71 16 16371454 16569977 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905437,nsv905436,nsv905434 M 6533 4 0 "" IS30553,IS35717,MS26001,SP53303 dgv2622n71 16 16407261 16720982 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905453,nsv905452,nsv905450,nsv905448,nsv905449,nsv905451,nsv905438,nsv905447 M 6533 16 0 "" IS30196,IS30537,IS31145,IS31323,IS31390,IS31703,IS31729,IS35027,IS38065,IS41043,IS41113,IS41927,MS11569,MS25529,SP50936,SP52122 dgv2623n71 16 16434114 16786230 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905454,nsv905441,nsv905494,nsv905481 M 6533 4 0 "" IS31169,MS17678,MS22858,SP55551 dgv2624n71 16 16438818 16580258 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905443,nsv905442,nsv905444,nsv905446,nsv905445 M 6533 5 0 "" IS31706,IS33878,MS18554,SP55749,SP57045 nsv833150 16 16453835 16649933 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452308,nssv1452301,nssv1452326,nssv1452325,nssv1452329,nssv1452315,nssv1452328,nssv1452300,nssv1452298,nssv1452327,nssv1452299,nssv1452303,nssv1452332,nssv1452302,nssv1452331,nssv1452307,nssv1452330,nssv1452306,nssv1452304,nssv1452309,nssv1452313,nssv1452312,nssv1452311,nssv1452305,nssv1452316,nssv1452324,nssv1452314,nssv1452310,nssv1452323,nssv1452318,nssv1452317,nssv1452322,nssv1452321,nssv1452320,nssv1452319 M 95 35 0 "" nsv509600 16 16468008 16468008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623688 S 4 1 0 "" NA18994 nsv9365 16 16469461 16472390 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22520,nssv26420,nssv25829 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA18853,NA18972 dgv819e1 16 16481609 16831289 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2480,essv20788,essv7291,essv4882 M 271 0 0 "" NA12146,NA18561,NA18592,NA18999 nsv469652 16 16481610 16650378 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649580 M 265 2 1 Samples from several populations that are part of the HapMap project. "" dgv2625n71 16 16501222 16739915 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905463,nsv905464,nsv905473,nsv905476,nsv905486,nsv905487,nsv905475,nsv905459,nsv905455,nsv905489,nsv905478,nsv905466,nsv905462,nsv905488,nsv905493,nsv905491,nsv905495,nsv905461,nsv905465,nsv905472,nsv905460,nsv905474,nsv905490 M 6533 44 0 "" IS30066,IS30189,IS30295,IS31189,IS31300,IS32819,IS32850,IS34124,IS34549,IS35271,IS35949,IS36777,IS38668,IS40402,IS40556,IS40990,IS41887,MS10203,MS12286,MS12471,MS13093,MS13390,MS13480,MS14451,MS16616,MS24046,MS24450,MS24808,MS25396,MS25432,SP50876,SP52058,SP52386,SP53083,SP54406,SP54798,SP55647,SP55820,SP55822,SP56096,SP56172,SP57205,SP57891,SP81352 dgv2626n71 16 16505578 16664139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905458,nsv905456 M 6533 0 2 "" MS14035,SP56658 dgv2627n71 16 16505578 16664139 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905485,nsv905484,nsv905457 M 6533 3 0 "" SP54456,SP56012,SP57274 dgv2628n71 16 16505578 16767302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905468,nsv905497,nsv905499,nsv905498,nsv905496,nsv905479 M 6533 0 12 "" MS10491,MS10682,MS11728,MS21188,MS25731,SP54006,SP54882,SP55660,SP56663,SP56856,SP81019,SP81072 dgv2629n71 16 16505578 16767302 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905467,nsv905477,nsv905480,nsv905469,nsv905492 M 6533 7 6 "" IS37892,IS38567,MS10545,MS12509,MS14658,MS18747,MS20269,MS20618,MS24897,MS25521,MS25839,SP50118,SP58007 nsv510413 16 16506641 16512641 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621434 S 4 0 1 "" NA15510 nsv833151 16 16509328 16715772 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452343,nssv1452352,nssv1452337,nssv1452342,nssv1452334,nssv1452335,nssv1452340,nssv1452338,nssv1452344,nssv1452351,nssv1452341,nssv1452333,nssv1452347,nssv1452350,nssv1452346,nssv1452345,nssv1452349,nssv1452348,nssv1452353,nssv1452339,nssv1452336 M 95 21 0 "" dgv2630n71 16 16519474 16595064 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905470,nsv905483 M 6533 2 0 "" SP50996,SP54517 nsv905471 16 16519474 16664139 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509228,nssv1499394,nssv1508781 M 6533 2 1 "" SP50032,SP54673,SP54768 dgv2631n71 16 16519474 18191548 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905482,nsv905508 M 6533 2 0 XYLT1 IS30196,SP54402 nsv9366 16 16537767 16557103 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20165 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 esv2421409 16 16538314 16726778 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5108442,essv5145171,essv5153695,essv5146235,essv5075947,essv5081463,essv5135895,essv5099067,essv5083330,essv5124592,essv5141352,essv5066060,essv5055243,essv5134153,essv5022619,essv5144526,essv5023011,essv5004939,essv5064380,essv5033693,essv5092409,essv5086553,essv5117251,essv5144453,essv5043366,essv5095171,essv5143366,essv5124981,essv5132648,essv5094145,essv5156099,essv5072185,essv5083680,essv5023125,essv5074136,essv5148205,essv5106853,essv5016288,essv5087365,essv5050741,essv5037813,essv5129166,essv5020444,essv5089463,essv5145955,essv5139677,essv5082075,essv5108265,essv5088269,essv5087923,essv5022407,essv5106246,essv5050357,essv5080094,essv5052005,essv5070774,essv5020663,essv5117324,essv5129019,essv5148932,essv5157608,essv5147600,essv5161019,essv5152434,essv5125516,essv5087251,essv5054536,essv5066690,essv5059075,essv5030071,essv5069463,essv5154819,essv5134976,essv5007643,essv5115845,essv5013034,essv5064052,essv5145283,essv5033039,essv5158295,essv5031672,essv5129589,essv5073368,essv5081700,essv5044940 M 1184 43 42 "" NA07348,NA07357,NA10847,NA10861,NA11994,NA12146,NA12275,NA12335,NA12341,NA17965,NA17968,NA17969,NA17987,NA17990,NA17996,NA17998,NA18124,NA18127,NA18131,NA18143,NA18151,NA18157,NA18501,NA18545,NA18555,NA18561,NA18570,NA18603,NA18617,NA18619,NA18628,NA18633,NA18638,NA18641,NA18745,NA18749,NA18949,NA18952,NA18971,NA18974,NA18976,NA18979,NA18987,NA18994,NA18999,NA19010,NA19054,NA19056,NA19078,NA19122,NA19123,NA19209,NA19317,NA19318,NA19328,NA19352,NA19376,NA19377,NA19394,NA19679,NA19914,NA20341,NA20770,NA20846,NA20849,NA20852,NA20885,NA20897,NA20903,NA21088,NA21097,NA21098,NA21106,NA21143,NA21415,NA21524,NA21529,NA21587,NA21599,NA21617,NA21619,NA21650,NA21678,NA21719,NA21825 nsv442711 16 16540862 16598301 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv820305 16 16559285 16644036 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418762 S 2 1 0 "" AK1 nsv9367 16 16576575 16587702 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22908 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 dgv463n67 16 16581563 16649854 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827570,nsv827571 M 31 5 0 "" AK18,AK4,AK6,NA18949,NA18999 dgv464n67 16 16581563 16739755 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827572,nsv827573 M 31 2 0 "" AK8,NA18592 dgv2632n71 16 16595064 16765809 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905500,nsv905502 M 6533 2 0 "" IS34820,SP51427 nsv905501 16 16595064 16767302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520935,nssv1556071 M 6533 0 2 "" MS21780,SP51328 nsv905503 16 16595064 16806996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572400 S 6533 1 0 "" IS33027 nsv833152 16 16627630 16816757 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452355,nssv1452354,nssv1452356,nssv1452357 M 95 4 0 "" nsv827574 16 16628073 16638558 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432456 S 31 1 0 "" AK20 nsv7278 16 16628094 18686540 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2135,nssv10084 M 9 0 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,XYLT1 NA18555,NA18956 nsv9368 16 16632502 16640663 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22772,nssv26435,nssv22666,nssv24982,nssv23404,nssv23921,nssv25928,nssv21984,nssv25850,nssv20170,nssv26230,nssv25091,nssv22550,nssv22263,nssv24068,nssv23535,nssv26662,nssv23155,nssv27755,nssv20195,nssv23024,nssv22458,nssv20711,nssv22937,nssv21812,nssv20992,nssv21936 M 31 27 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv27938 16 16632998 16639195 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18315 S 451 29 1 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12006,NA12239,NA12287,NA12414,NA12749,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv827576 16 16634051 16638558 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436196,nssv1430946,nssv1422535,nssv1435450,nssv1439305,nssv1439990,nssv1434728,nssv1422203,nssv1428676,nssv1422981,nssv1424583,nssv1430179,nssv1440686,nssv1437059,nssv1438469,nssv1422641,nssv1434014 M 31 17 0 "" AK10,AK14,AK16,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18951,NA18969,NA18973,NA18997 nsv905504 16 16657423 16930722 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523249 S 6533 1 0 "" SP53834 nsv905505 16 16664139 16786230 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572545 S 6533 1 0 "" IS33129 nsv905506 16 16664139 18053266 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556854 S 6533 0 1 XYLT1 MS22227 nsv905507 16 16665339 16746190 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507317 S 6533 1 0 "" SP54524 nsv9370 16 16702971 16705030 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23183,nssv23052,nssv22293 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA18537,NA19007 nsv510678 16 16730011 16799696 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618932 S 4 0 1 "" NA10860 nsv905509 16 16739915 17141541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588154 S 6533 1 0 XYLT1 IS38168 nsv905510 16 16769874 17352536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528812 S 6533 1 0 XYLT1 SP81363 esv8021 16 16781898 16781984 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30462 S 1 1 0 "" SJK nsv1747 16 16815143 16862703 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4197,nssv5591,nssv10948,nssv2136,nssv1296 M 9 0 5 "" NA12878,NA15510,NA18555,NA19129,NA19240 esv2751550 16 16824638 18688438 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985612,essv6981570,essv6981571,essv6981572,essv6988420 M 771 1 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,XYLT1 BEC_301 nsv139 16 16835304 16853911 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv139 S 1 0 1 "" NA15510 nsv510679 16 16839699 16876573 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618933 S 4 0 1 "" NA10860 nsv511046 16 16839699 16916838 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621636 S 4 0 0 "" NA15510 esv2581964 16 16841181 16848676 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286049 S 1 0 1 "" NA18507 dgv46n16 16 16841487 16848921 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436207,nsv435667 M 2 0 2 "" NA15510,NA18505 esv1918738 16 16841663 16848126 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690484 S 1 0 1 "" NA18507 esv5331 16 16841845 16848051 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27772 S 1 0 1 Single Asian sample YH "" YH nsv498858 16 16841864 16847931 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585719 S 9 0 1 "" nsv905511 16 16867138 16930722 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525291 S 6533 1 0 "" SP56395 nsv905512 16 16878868 16996235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572546 S 6533 1 0 "" IS33129 nsv1748 16 16882507 16917223 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1297 S 9 1 0 "" NA19240 nsv507806 16 16893326 16899326 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617909,nssv619161 M 4 2 0 "" CHM,NA10860 nsv905513 16 16935748 16984541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514982 S 6533 1 0 "" SP56106 nsv521638 16 17033317 17034924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698256 S 2026 0 1 "" esv2548988 16 17072758 17073475 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366474 S 1 1 0 "" NA18507 nsv513446 16 17072909 17073405 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625849 S 1 1 0 "" 1 nsv833153 16 17074705 17250878 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452359,nssv1452358 M 95 2 0 XYLT1 esv1009408 16 17133872 17133926 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573351 S 3 0 1 XYLT1 HuRef esv1343982 16 17133896 17133951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710829 S 2 0 1 XYLT1 HuRef nsv103826 16 17145213 17145269 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122404 M 24 XYLT1 nsv905514 16 17156081 17214162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572547 S 6533 1 0 XYLT1 IS33129 esv268467 16 17256258 17256343 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515718 S 157 1 0 Samples from several populations that are part of the HapMap project. XYLT1 NA12815 nsv1749 16 17257626 17267859 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7236 S 9 0 1 XYLT1 NA12156 nsv905515 16 17280182 17427348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572548 S 6533 1 0 XYLT1 IS33129 nsv833154 16 17296636 17474358 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452360 S 95 0 1 XYLT1 nsv905516 16 17324547 17353568 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512520 S 6533 0 1 XYLT1 SP55548 dgv465n67 16 17383293 17386639 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827577,nsv827578,nsv827579 M 31 0 6 XYLT1 AK10,AK12,AK14,NA18537,NA18552,NA18570 nsv905517 16 17439072 18243592 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528813 S 6533 1 0 XYLT1 SP81363 dgv820e1 16 17441601 18293192 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7626,essv7221 M 271 0 0 XYLT1 NA18547 esv587 16 17441601 19066807 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ABCC6P1,ARL6IP1,COQ7,ITPRIPL2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1,TMC7,XYLT1 esv270381 16 17448146 17448481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510630,essv2498542,essv2507241 M 157 3 0 Samples from several populations that are part of the HapMap project. XYLT1 NA18501,NA18858,NA18870 nsv1750 16 17453780 17488286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2949 S 9 1 0 XYLT1 NA18555 nsv827580 16 17470918 17474271 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433271 S 31 1 0 XYLT1 NA18972 esv34395 16 17499663 18171589 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979405,essv6979404,essv6990361,essv6986856,essv6986857 M 771 1 0 "" NA18547 esv1513829 16 17507016 17507094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097531 S 2 0 1 "" HuRef esv1426483 16 17507109 17507208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163348 S 2 0 1 "" HuRef nsv827581 16 17508306 18115569 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422547 S 31 1 0 "" NA18547 nsv817723 16 17516975 18072544 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417166 S 112 1 0 "" NA18547 nsv905518 16 17553695 17646047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545747 S 6533 1 0 "" MS16932 nsv9371 16 17562115 17564293 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22323 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv469688 16 17593034 17760316 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649619 M 265 0 0 Samples from several populations that are part of the HapMap project. "" esv2481173 16 17662281 17663204 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277326 S 1 1 0 "" NA18507 nsv9372 16 17697179 17701591 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25979 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv905519 16 17721127 18085470 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572549 S 6533 1 0 "" IS33129 nsv833155 16 17727512 17893402 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452361 S 95 1 0 "" nsv833156 16 17763988 17969946 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452362 S 95 0 1 "" esv274425 16 17837544 17837814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579285 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv520968 16 17841806 17850104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697713 S 2026 0 1 "" esv26029 16 17882756 17883444 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11989 S 451 0 1 "" NA19147 nsv833157 16 17956664 18092692 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452363 S 95 0 1 "" esv29593 16 17977319 17983112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19966 S 451 0 1 "" NA18909 nsv519005 16 17982201 18002188 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696474 S 2026 0 1 "" dgv821e1 16 18000444 18293192 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16445,essv12330 M 271 0 0 "" NA19138,NA19139 nsv9373 16 18010196 18016686 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22014,nssv21022,nssv22801,nssv22488 M 31 1 3 Samples from several populations that are part of the HapMap project. "" NA10839,NA18564,NA18942,NA18975 dgv822e1 16 18036757 18771465 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22539,essv10935,essv22988,essv2799,essv1876,essv4132,essv11104,essv327,essv3478,essv6747,essv7538,essv4273,essv2087,essv16014,essv1681 M 271 0 0 ABCC6P1,ARL6IP1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1 NA07348,NA07357,NA18501,NA18545,NA18555,NA18562,NA18603,NA18949,NA18971,NA18976,NA18987,NA18992,NA19209,NA19211 dgv823e1 16 18036757 19066807 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv202,essv3875 M 271 0 0 ABCC6P1,ARL6IP1,COQ7,ITPRIPL2,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1,TMC7 NA18994 nsv833158 16 18036762 18186964 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452364,nssv1452365 M 95 2 0 "" dgv2633n71 16 18065113 18687337 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905520,nsv905529,nsv905535 M 6533 3 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 IS39243,MS12471,MS17678 nsv510680 16 18067930 18157932 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622704,nssv618934 M 4 0 2 "" NA10860,NA18994 nsv905521 16 18075924 18262224 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567903 S 6533 1 0 "" IS31169 nsv428320 16 18078817 18747491 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv452970 S 62 0 1 ABCC6P1,ARL6IP1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1 HGDP00473 esv1320989 16 18093097 18093097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698075 S 2 1 0 "" HuRef nsv905522 16 18107701 18508767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513765 S 6533 1 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 SP55842 dgv824e1 16 18108163 18577489 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3192,essv6575 M 271 0 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 NA18621,NA18974 nsv905523 16 18132321 18191548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499813 S 6533 1 0 "" SP50128 nsv905524 16 18132321 18224485 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508032,nssv1550555,nssv1551468 M 6533 3 0 "" MS18454,MS18894,SP54704 dgv2634n71 16 18132321 18268877 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905526,nsv905528,nsv905527,nsv905525 M 6533 5 0 "" IS30096,MS18682,MS22807,SP50027,SP52740 nsv9374 16 18150515 18153161 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25999 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 dgv2635n71 16 18158094 18275607 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905532,nsv905531,nsv905530,nsv905533 M 6533 6 0 "" IS30547,IS41905,MS12493,MS18376,SP54249,SP55514 nsv517002 16 18163425 18174650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662196,nssv664026,nssv669376,nssv681765,nssv659220,nssv655585,nssv677271,nssv675762,nssv686949,nssv659174,nssv652461,nssv678789,nssv680261,nssv679196,nssv676175,nssv692327,nssv659852,nssv656040,nssv653598,nssv668878,nssv676051,nssv666177,nssv659775,nssv673253,nssv661015,nssv670631,nssv660782,nssv662466,nssv654474,nssv657493,nssv653645,nssv671932,nssv666553,nssv660624,nssv684689,nssv656277,nssv675633 M 2026 0 37 "" esv34419 16 18171600 18990722 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990216,essv6978265,essv6986578,essv6986579 M 771 1 0 ABCC6P1,ARL6IP1,COQ7,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2,RPS15A,SMG1,TMC7 NA18994 nsv905534 16 18191548 18268877 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517018,nssv1503881,nssv1518342,nssv1518381,nssv1506829,nssv1517808,nssv1516639,nssv1518607 M 6533 8 0 "" SP52122,SP54407,SP56880,SP57027,SP57368,SP57501,SP57518,SP57779 nsv9375 16 18199806 18201680 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21966 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 nsv510414 16 18202265 18208265 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624174,nssv621435 M 4 0 2 "" NA15510,NA18994 nsv433436 16 18206435 18373425 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463317 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv905536 16 18243592 18444045 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533176 S 6533 1 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 MS11032 nsv509601 16 18286484 18423272 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619682 S 4 1 0 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 NA10860 nsv905537 16 18300752 18547499 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540679 S 6533 1 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 MS14953 nsv1751 16 18309681 18385113 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2137 S 9 0 1 "" NA18555 nsv820784 16 18310261 18418104 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421165 S 1 0 1 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3 NA10851 esv28183 16 18310261 18419959 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14837,esv19265,esv16572,esv13812 M 451 8 1 MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 NA06985,NA12239,NA12776,NA18505,NA18907,NA19099,NA19114,NA19190,NA19240 nsv9376 16 18340304 18357495 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27762,nssv22830 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA19221 nsv833160 16 18362910 18589725 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452370,nssv1452369,nssv1452371,nssv1452379,nssv1452380,nssv1452375,nssv1452374,nssv1452376,nssv1452372,nssv1452377,nssv1452368,nssv1452367,nssv1452373,nssv1452366,nssv1452378 M 95 15 0 ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 nsv9377 16 18380411 18391803 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21052,nssv20771 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA18942 nsv9378 16 18397373 18428057 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27769,nssv22695,nssv23563,nssv23948,nssv22966,nssv23110,nssv23211,nssv25871 M 31 1 7 Samples from several populations that are part of the HapMap project. MIR3179-1,MIR3179-2,MIR3179-3,MIR3180-1,MIR3180-2,MIR3180-3,NOMO2 NA18537,NA18552,NA18972,NA18980,NA19007,NA19144,NA19173,NA19221 esv990950 16 18403699 18420039 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586116 S 3 1 0 MIR3179-1,MIR3179-2,MIR3179-3,NOMO2 HuRef essv8865 16 18405310 18577489 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABCC6P1,MIR3179-1,MIR3179-2,MIR3179-3,NOMO2 NA18508 dgv825e1 16 18405310 18771465 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7322,essv444 M 271 0 0 ABCC6P1,ARL6IP1,MIR3179-1,MIR3179-2,MIR3179-3,NOMO2,RPS15A,SMG1 NA18570,NA18952 nsv9379 16 18443823 18447223 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23591 S 31 1 0 Samples from several populations that are part of the HapMap project. NOMO2 NA19173 dgv2636n71 16 18457567 18687337 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905538,nsv905543 M 6533 0 11 ABCC6P1,NOMO2 IS37689,MS10491,MS12509,MS16467,MS20269,MS21188,MS23697,MS24969,SP52614,SP53972,SP54882 dgv2637n71 16 18466916 18647470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905541,nsv905539,nsv905545 M 6533 0 5 ABCC6P1,NOMO2 MS17554,MS25731,SP55019,SP56658,SP57905 esv2421404 16 18478553 18658709 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5097743,essv5096022,essv5106027,essv5058985,essv5126927,essv5018731,essv5136338,essv5110268,essv5005183,essv5091804,essv5149263,essv5003653,essv5153255,essv5082981,essv5068562,essv5052228,essv5039010,essv5108025,essv5038642,essv5117031,essv5122228,essv5007027,essv5113273,essv5109582,essv5017235,essv5048681,essv5144067,essv5146216,essv5052933,essv5155010,essv5015650,essv5020888,essv5108552,essv5136322,essv5018786 M 1184 0 35 ABCC6P1,NOMO2 NA17968,NA17969,NA17987,NA17990,NA17998,NA18127,NA18131,NA18151,NA18157,NA18570,NA18603,NA18617,NA18628,NA18633,NA18638,NA18641,NA18952,NA18974,NA18976,NA18987,NA19056,NA19078,NA19328,NA19439,NA19681,NA19683,NA20126,NA20341,NA20849,NA21415,NA21529,NA21619,NA21650,NA21678,NA21825 nsv905540 16 18482284 18593360 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531901 S 6533 1 0 ABCC6P1 MS10695 dgv2638n71 16 18482284 18701749 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905544,nsv905542 M 6533 3 6 ABCC6P1 IS41043,MS11728,MS14035,MS24897,MS25529,SP54006,SP54853,SP81072,SP81088 nsv442712 16 18501901 18585612 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABCC6P1 nsv9381 16 18507917 18512148 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26449 S 31 1 0 Samples from several populations that are part of the HapMap project. ABCC6P1 NA18502 dgv2639n71 16 18508767 18701749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905551,nsv905554,nsv905546,nsv905547,nsv905553,nsv905550,nsv905552,nsv905549 M 6533 0 8 ABCC6P1 MS10682,MS18436,MS25839,SP50118,SP54768,SP56663,SP56856,SP81019 nsv514796 16 18515688 18582976 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627162 S 1414 0 0 ABCC6P1 nsv905548 16 18525317 18678015 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524024 S 6533 1 0 "" SP54798 nsv469598 16 18569812 18747491 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649713 M 265 1 0 Samples from several populations that are part of the HapMap project. ARL6IP1,RPS15A,SMG1 nsv9382 16 18574371 18576437 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23138,nssv22353,nssv23239 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA18537,NA19007 esv33907 16 18577196 18687445 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101592,essv101248,essv93943,essv100993,essv95200,essv94686,essv94109,essv97961,essv95537,essv93103,essv95319,essv97431,essv101623,essv95812,essv94637,essv98993,essv92904,essv92757,essv93650,essv96241,essv96576,essv96040,essv93531,essv93190,essv94849,essv92619,essv96501,essv97791,essv100141,essv100468,essv100368,essv98516 M 51 0 32 "" 21603,21618,21634,21693,21721,21791,21802,21837,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22127,22128,22170,22231,22233,22261,22278,22286,22298,22300,22352 nsv905555 16 18603441 18701581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514929 S 6533 1 0 "" SP56096 nsv833161 16 18613820 18801926 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452381 S 95 0 1 ARL6IP1,RPS15A,SMG1 nsv9383 16 18634215 18641431 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20225 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv9384 16 18661835 18663323 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26675 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv1752 16 18715597 18758579 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5592,nssv4198,nssv6661 M 9 0 3 ARL6IP1,SMG1 NA12156,NA12878,NA19129 nsv512427 16 18739595 18746210 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625019 S 1 0 1 SMG1 1 nsv436205 16 18739824 18745933 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465534 S 2 0 1 Samples from several populations that are part of the HapMap project. SMG1 NA18505 esv2169089 16 18739827 18746024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572894 S 1 0 1 SMG1 NA18507 dgv57e180 16 18739858 18746220 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv987541,esv1005828 M 3 0 1 SMG1 HuRef esv2632615 16 18739887 18746926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177850 S 1 0 1 SMG1 NA18507 nsv1753 16 18751518 18784350 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1298 S 9 1 0 SMG1 NA19240 esv995185 16 18762126 18764989 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564926 S 3 1 0 SMG1 HuRef esv22839 16 18775476 18849634 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19074,esv19612 M 451 4 0 SMG1 NA12239,NA15510,NA18505,NA18517 nsv905556 16 18794132 18950684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512748 S 6533 1 0 SMG1,TMC7 SP55610 nsv9385 16 18806658 18825354 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22518 S 31 0 1 Samples from several populations that are part of the HapMap project. SMG1 NA18564 nsv905557 16 18822176 18895461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502408 S 6533 1 0 SMG1 SP51161 nsv9386 16 18837819 18850180 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22548 S 31 0 1 Samples from several populations that are part of the HapMap project. SMG1 NA18564 nsv436835 16 18849475 21419798 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465535 S 2 1 0 Samples from several populations that are part of the HapMap project. ACSM1,ACSM2A,ACSM2B,ACSM3,ACSM5,ANKS4B,C16orf62,C16orf88,CCP110,COQ7,CRYM,CRYM-AS1,DCUN1D3,DNAH3,ERI2,GDE1,GP2,GPR139,GPRC5B,IQCK,ITPRIPL2,LOC100190986,LOC100271836,LOC81691,LYRM1,NPIPL3,PDILT,RUNDC2B,SYT17,THUMPD1,TMC5,TMC7,TMEM159,UMOD,ZP2 NA18505 dgv2640n71 16 18852576 18992799 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905562,nsv905559,nsv905558,nsv905563,nsv905564,nsv905560,nsv905561 M 6533 11 0 COQ7,TMC7 MS22411,SP51359,SP52740,SP54442,SP54456,SP55883,SP56119,SP56304,SP56975,SP57278,SP81145 nsv817724 16 18856267 18968449 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417673 S 112 1 0 TMC7 NA18994 esv2363571 16 18874859 18875338 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540638 S 1 0 1 "" NA18507 nsv1754 16 18890521 18901688 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7237 S 9 1 0 "" NA12156 esv27011 16 18908875 18916526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19174 S 451 0 1 TMC7 NA19129 nsv9387 16 18920630 18924810 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23166 S 31 0 1 Samples from several populations that are part of the HapMap project. TMC7 NA19007 nsv905565 16 18924467 18960991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502409 S 6533 1 0 TMC7 SP51161 nsv509603 16 18974548 18974548 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623689 S 4 1 0 TMC7 NA18994 nsv103187 16 18996428 19004770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121765 M 24 COQ7 esv998101 16 19090111 19103372 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564793 S 3 0 1 SYT17 HuRef esv2550711 16 19137105 19138642 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386596 S 1 0 1 SYT17 NA18507 esv2418352 16 19137748 19138494 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933781 S 1 0 1 SYT17 NA18507 esv5037 16 19137900 19138404 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27478 S 1 0 1 Single Asian sample YH SYT17 YH esv993801 16 19137940 19138291 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566070 S 3 0 1 SYT17 HuRef esv1661893 16 19137943 19138295 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946802 S 2 0 1 SYT17 HuRef esv8609 16 19137946 19138288 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31050 S 1 0 1 SYT17 SJK nsv833162 16 19163211 19355377 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452382 S 95 0 1 SYT17,TMC5 esv1183999 16 19240494 19240494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340885 S 2 1 0 "" HuRef nsv905566 16 19245208 19301404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589356 S 6533 1 0 "" IS38342 esv23764 16 19257213 19263072 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10494,esv20480 M 451 2 0 "" NA18508,NA18858 nsv905567 16 19263870 19348022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571016 S 6533 1 0 TMC5 IS32446 dgv2641n71 16 19290228 19327141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905569,nsv905568 M 6533 0 2 "" IS31980,SP54406 esv23579 16 19313927 19321708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20081,esv14796 M 451 0 6 "" NA12239,NA12414,NA12489,NA15510,NA19129,NA19147 esv27832 16 19368688 19370558 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16980 S 451 0 1 TMC5 NA19099 nsv833163 16 19376335 19547539 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452383 S 95 1 0 C16orf62,CCP110,GDE1,TMC5 esv2116787 16 19413633 19414341 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912212 S 1 0 1 TMC5 NA18507 esv3792 16 19413762 19414215 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26233 S 1 0 1 Single Asian sample YH TMC5 YH esv272811 16 19424978 19425063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581451 S 7 1 0 Samples from several populations that are part of the HapMap project. GDE1 NA12878 nsv520441 16 19493489 19516296 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697422 S 2026 0 1 C16orf62 nsv1756 16 19511205 19543572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7238,nssv2138 M 9 2 0 C16orf62 NA12156,NA18555 esv991936 16 19626064 19626764 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586923 S 3 0 1 C16orf88 HuRef nsv428321 16 19660856 19795496 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453004,nssv453005 M 62 0 2 GPRC5B,IQCK HGDP00476,NA19096 esv275046 16 19711347 19714422 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585159,essv2585558 M 1250 1 1 IQCK nsv103121 16 19776589 19779910 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121699 M 24 GPRC5B esv32696 16 19841415 19842073 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94712 S 51 1 0 "" 21791 nsv1757 16 19848625 19887830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4199 S 9 0 1 "" NA12878 dgv47n17 16 19851864 19886835 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437804,nsv437803 M 60 0 2 "" NA19139,NA19205 nsv9388 16 19852680 19879410 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23432,nssv24095 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740 esv33232 16 19853027 19867380 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101615,essv101135,essv101098,essv98252,essv93030,essv96093,essv97079,essv94935,essv92538,essv97626 M 51 0 10 "" 21603,21618,21693,21772,21863,22007,22075,22231,22233,22278 esv21717 16 19853044 19874003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17499 S 451 0 10 "" NA06985,NA11931,NA11993,NA12004,NA12414,NA12489,NA12776,NA12878,NA18508,NA18916 nsv498859 16 19853051 19875086 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585720 S 9 0 1 "" esv2421727 16 19853151 19874863 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124757,essv5145424,essv5013429,essv5039245,essv5095973,essv5076329,essv5126803,essv5015974,essv5011168,essv5123687,essv5157028,essv5071906,essv5003113,essv5021172,essv5034751,essv5157022,essv5007713,essv5100147,essv5069266,essv5102878,essv5108590,essv5041787,essv5105766,essv5124086,essv5113840,essv5039610,essv5085321,essv5113355,essv5129295,essv5101716,essv5050886,essv5155476,essv5079738,essv5111296,essv5008464,essv5105645,essv5093418,essv5060068,essv5019144,essv5063040,essv5024713,essv5082913,essv5064064,essv5117987,essv5130876,essv5135127,essv5091738,essv5153979,essv5028995,essv5025485,essv5065380,essv5061840,essv5083235,essv5072428,essv5141183,essv5037287,essv5158602,essv5092845,essv5122337,essv5138970,essv5064963,essv5095526,essv5157317,essv5112499,essv5113793,essv5012937,essv5131716,essv5140019,essv5151757,essv5016257,essv5030798,essv5123771,essv5116918,essv5150893,essv5073612,essv5159388,essv5144724,essv5120839,essv5052638,essv5026796,essv5080288,essv5145831,essv5047513,essv5149955,essv5139890,essv5036753,essv5038512,essv5147561,essv5107729,essv5134334,essv5158385,essv5040161,essv5070960,essv5155948,essv5117167,essv5049080,essv5118000,essv5035762,essv5051045,essv5140671,essv5142570,essv5155513,essv5128023,essv5147734,essv5056801,essv5051978,essv5147321,essv5047779,essv5037206,essv5133812,essv5074529,essv5115532,essv5106955,essv5133419,essv5024486,essv5103649,essv5071169,essv5014289,essv5006237,essv5097246,essv5152650,essv5002639,essv5110165,essv5059743,essv5059554,essv5142504,essv5077321,essv5090480,essv5075498,essv5111238,essv5037438,essv5119755,essv5090906,essv5135032,essv5089349,essv5122907,essv5116466,essv5081955,essv5064105,essv5057048,essv5129486,essv5067692,essv5139841,essv5140740,essv5067931,essv5083393,essv5139351,essv5118873,essv5042315,essv5051707 M 1184 0 150 "" NA06985,NA06986,NA06997,NA10830,NA11892,NA11917,NA11931,NA11993,NA11994,NA12003,NA12045,NA12145,NA12154,NA12155,NA12234,NA12272,NA12344,NA12348,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12708,NA12740,NA12748,NA12750,NA12761,NA12763,NA12766,NA12767,NA12776,NA12777,NA12813,NA12827,NA12842,NA12877,NA12878,NA12890,NA12892,NA18485,NA18486,NA18488,NA18489,NA18506,NA18508,NA18510,NA18511,NA18857,NA18862,NA18913,NA18914,NA18916,NA18930,NA18934,NA18935,NA19038,NA19102,NA19103,NA19121,NA19122,NA19123,NA19137,NA19139,NA19150,NA19175,NA19204,NA19206,NA19214,NA19224,NA19226,NA19238,NA19308,NA19310,NA19327,NA19328,NA19347,NA19352,NA19360,NA19396,NA19404,NA19435,NA19440,NA19649,NA19650,NA19669,NA19720,NA19722,NA19756,NA19757,NA19819,NA19828,NA19835,NA19914,NA19915,NA20277,NA20287,NA20288,NA20291,NA20292,NA20295,NA20301,NA20319,NA20322,NA20334,NA20337,NA20343,NA20346,NA20349,NA20350,NA20360,NA20504,NA20509,NA20517,NA20521,NA20535,NA20540,NA20542,NA20582,NA20589,NA20752,NA20753,NA20759,NA20768,NA20770,NA20772,NA20774,NA20799,NA20800,NA20802,NA20803,NA20805,NA20810,NA20816,NA20818,NA20845,NA20847,NA20884,NA20898,NA21113,NA21142,NA21143,NA21371,NA21420,NA21434,NA21440,NA21716,NA21718,NA21826 nsv442714 16 19853151 19874863 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514797 16 19853322 19867410 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628251 S 1414 0 1 "" esv268256 16 19887589 19887832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512215,essv2500888,essv2493993,essv2504844,essv2510801,essv2497596,essv2502233 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18856,NA18871,NA19099,NA19116,NA19147,NA19257 esv2628140 16 19895449 19900624 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375447 S 1 0 1 "" NA18507 esv1981290 16 19895799 19900218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634494 S 1 0 1 "" NA18507 esv23570 16 19895975 19900062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13467 S 451 0 1 "" NA18858 esv2441148 16 19896452 19900849 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305964 S 1 0 1 "" NA18507 esv2750508 16 19899518 19900195 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98273 S 51 0 1 "" 21772 esv2640904 16 19914378 19915501 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392670 S 1 1 0 "" NA18507 esv268943 16 19914970 19915231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540165,essv2562597,essv2551125,essv2527810,essv2574828,essv2572821 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18507,NA18858,NA18907,NA19138,NA19143 nsv1758 16 20050109 20085117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4200 S 9 1 0 "" NA12878 esv267581 16 20080935 20081187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500830,essv2512231,essv2503790,essv2509676,essv2496394,essv2494670,essv2497251,essv2508318,essv2511278,essv2501594,essv2507512,essv2493940,essv2511691,essv2504914,essv2493055,essv2505432,essv2495175,essv2500739,essv2505638,essv2498839 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155,NA12761,NA18508,NA18510,NA18519,NA18552,NA18561,NA18570,NA18608,NA18638,NA18871,NA18940,NA18942,NA18951,NA18952,NA18964,NA18973,NA19005,NA19138 esv2499355 16 20088660 20088950 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264261 S 1 0 1 "" NA18507 esv1004785 16 20129124 20129124 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576394 S 3 1 0 "" HuRef esv1266862 16 20129125 20129125 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292738 S 2 1 0 "" HuRef nsv507807 16 20148401 20154401 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623206,nssv617910,nssv619162,nssv620600 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv1759 16 20258087 20292269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1299 S 9 1 0 PDILT,UMOD NA19240 nsv905570 16 20317989 20406898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552398 S 6533 1 0 ACSM2A,ACSM5,PDILT MS19397 nsv510415 16 20347380 20353380 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624175 S 4 0 1 ACSM5 NA18994 dgv826e1 16 20352824 20454385 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10511,essv7895,essv13238 M 271 0 0 ACSM2A,ACSM5 NA19131,NA19143,NA19239 esv1311 16 20352824 20506848 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ACSM2A,ACSM2B,ACSM5 nsv905571 16 20360002 20417197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518463 S 6533 1 0 ACSM2A SP57599 nsv437805 16 20360002 20453390 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467686 S 60 0 1 Samples from several populations that are part of the HapMap project. ACSM2A NA19202 nsv7279 16 20384676 20478327 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4201,nssv9312,nssv9311 M 9 0 0 ACSM2A,ACSM2B NA12878,NA18517 nsv525413 16 20386225 20408047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701537 S 2026 0 1 ACSM2A dgv346n27 16 20386225 20437735 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457443,nsv457442 M 1557 0 2 ACSM2A HGDP00462,HGDP00932 dgv827e1 16 20389173 20455835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7972,essv14952,essv7998,essv14659,essv13295 M 271 0 0 ACSM2A,ACSM2B NA19132,NA19145,NA19202,NA19221,NA19240 nsv516604 16 20391230 20391462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676418,nssv669505 M 2026 0 2 ACSM2A dgv48n17 16 20392371 20453390 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437806,nsv437807 M 60 0 2 ACSM2A NA19132,NA19205 dgv828e1 16 20395870 20478276 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8705,essv9525 M 271 0 0 ACSM2A,ACSM2B NA19200,NA19223 nsv1760 16 20400262 20466261 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1300 S 9 0 1 ACSM2A,ACSM2B NA19240 nsv9389 16 20403144 20405192 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26019 S 31 0 1 Samples from several populations that are part of the HapMap project. ACSM2A NA18517 esv26098 16 20403543 20407769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13760 S 451 0 1 ACSM2A NA18517 nsv827582 16 20405584 20406094 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437060 S 31 1 0 ACSM2A NA18542 nsv9390 16 20406711 20420055 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25116,nssv26039 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517 essv7941 16 20407950 20438354 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19203 esv27489 16 20408602 20457738 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20708,esv10997 M 451 0 3 ACSM2B NA12878,NA18858,NA19240 esv1664887 16 20414999 20415067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987715 S 2 0 1 "" HuRef nsv499800 16 20417200 20441190 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585515 S 9 0 0 "" nsv9392 16 20419728 20441638 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27776,nssv26248,nssv25141,nssv25007 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18504,NA19132,NA19221,NA19240 nsv442715 16 20420282 20440540 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421894 16 20420282 20441021 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5006600,essv5022841,essv5127954,essv5038545,essv5127301,essv5144578,essv5138379,essv5145629,essv5127909,essv5137025,essv5139204,essv5028794,essv5053367,essv5158164,essv5026711,essv5159288,essv5129366,essv5023737,essv5114897,essv5131438,essv5088643,essv5051595,essv5150790,essv5050589,essv5025100,essv5056032,essv5047108,essv5049243,essv5110091,essv5124908,essv5039752,essv5077658,essv5102293,essv5062663,essv5050920,essv5079030,essv5074747,essv5150865,essv5096551,essv5003984,essv5113165,essv5151938,essv5009538,essv5137777,essv5014653,essv5017054,essv5053038,essv5105342,essv5147404,essv5008065,essv5053876,essv5114801,essv5131364,essv5050899,essv5096565,essv5124808,essv5051975,essv5043490 M 1184 0 58 "" NA18484,NA18486,NA18504,NA18509,NA18858,NA19118,NA19122,NA19131,NA19132,NA19138,NA19143,NA19174,NA19178,NA19200,NA19202,NA19203,NA19221,NA19223,NA19239,NA19240,NA19247,NA19256,NA19258,NA19347,NA19381,NA19382,NA19390,NA19398,NA19431,NA19439,NA19462,NA19469,NA19703,NA19705,NA19835,NA19900,NA19902,NA20277,NA20295,NA21300,NA21316,NA21317,NA21318,NA21353,NA21362,NA21417,NA21438,NA21439,NA21485,NA21488,NA21520,NA21574,NA21611,NA21613,NA21635,NA21648,NA21686,NA21722 dgv829e1 16 20420371 20455835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11361,essv11067 M 271 0 0 ACSM2B NA18858,NA19138 nsv516993 16 20421223 20437735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673616,nssv682924,nssv662197,nssv652462,nssv676740,nssv676930,nssv655302,nssv675146,nssv651741,nssv686220,nssv666341,nssv652624,nssv659530,nssv693933,nssv665494,nssv654569,nssv654445,nssv677319,nssv671773,nssv692871,nssv672860,nssv687958,nssv690397,nssv689018,nssv653332,nssv668587,nssv664309,nssv652199,nssv666896,nssv663071,nssv682346,nssv692258,nssv658322,nssv666997,nssv660684,nssv690152,nssv653571,nssv654724,nssv662014,nssv690734,nssv687443,nssv684712,nssv659741,nssv685557,nssv668292,nssv691903,nssv690443,nssv693059 M 2026 0 48 "" nsv817725 16 20421223 20437735 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416976,nssv1416884,nssv1418219,nssv1416885,nssv1418220 M 112 0 5 "" NA19138,NA19143,NA19145,NA19239,NA19240 essv15192 16 20423139 20438354 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv514798 16 20429940 20440884 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628252 S 1414 0 1 "" essv5757 16 20437119 20506848 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACSM2B NA18540 nsv905572 16 20440544 20474839 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516920,nssv1512086,nssv1519570 M 6533 2 1 ACSM2B SP55277,SP56975,SP81091 nsv905573 16 20440544 20475603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502008 S 6533 0 1 ACSM2B SP50711 nsv9393 16 20441310 20452824 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25196 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv833164 16 20442292 20598180 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452384 S 95 0 1 ACSM1,ACSM2B nsv442394 16 20453641 20464610 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ACSM2B nsv905574 16 20454047 20474839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518458 S 6533 0 1 ACSM2B SP57599 nsv905575 16 20454577 20617831 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548239 S 6533 1 0 ACSM1,ACSM2B MS17760 nsv521570 16 20471891 20528494 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698186 S 2026 1 0 ACSM2B esv2533542 16 20482289 20487250 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298721 S 1 0 1 ACSM2B NA18507 nsv103483 16 20485580 20485580 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122061 M 24 ACSM2B nsv507808 16 20488228 20494228 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620601 S 4 1 0 ACSM2B NA15510 nsv509604 16 20496981 20551176 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623690 S 4 1 0 ACSM1 NA18994 nsv1761 16 20532731 20567367 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4202 S 9 1 0 ACSM1 NA12878 nsv516605 16 20579676 20580129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671088,nssv669506,nssv656395 M 2026 0 3 ACSM1 nsv507809 16 20587987 20593987 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623207 S 4 1 0 ACSM1 NA18994 nsv833165 16 20637041 20805219 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452385 S 95 0 1 ACSM3,DCUN1D3,ERI2,LOC81691,THUMPD1 esv2582493 16 20685410 20686924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367005 S 1 0 1 ACSM3 NA18507 esv1965812 16 20685864 20686573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586247 S 1 0 1 ACSM3 NA18507 esv2793 16 20686014 20686614 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25234 S 1 0 1 Single Asian sample YH ACSM3 YH esv1008054 16 20686051 20686370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583101 S 3 0 1 ACSM3 HuRef esv1388215 16 20686058 20686378 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018144 S 2 0 1 ACSM3 HuRef esv9416 16 20686090 20686375 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31857 S 1 0 1 ACSM3 SJK nsv457444 16 20836726 21079374 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534635 S 1557 0 1 DNAH3,LYRM1,TMEM159 1780862082_A nsv833166 16 20943307 21139458 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452386,nssv1452400,nssv1452401,nssv1452399,nssv1452398,nssv1452402,nssv1452412,nssv1452403,nssv1452405,nssv1452404,nssv1452406,nssv1452411,nssv1452410,nssv1452409,nssv1452416,nssv1452413,nssv1452414,nssv1452394,nssv1452387,nssv1452390,nssv1452397,nssv1452389,nssv1452415,nssv1452388,nssv1452396,nssv1452408,nssv1452393,nssv1452392,nssv1452391,nssv1452395,nssv1452407 M 95 4 27 DNAH3,TMEM159,ZP2 nsv819009 16 20973152 20977094 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419591 S 2 0 1 DNAH3 AK1 nsv435666 16 21044614 21050709 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465536 S 2 0 1 DNAH3 NA15510 esv33636 16 21091793 21091924 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101136,essv94511 M 51 0 2 TMEM159 21618,21932 esv33128 16 21091793 21092910 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95435 S 51 0 1 TMEM159 21847 nsv509605 16 21115437 21145627 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621022,nssv619683,nssv618114 M 4 3 0 ZP2 CHM,NA10860,NA15510 nsv1762 16 21117421 21146000 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4203,nssv2950 M 9 2 0 ZP2 NA12878,NA18555 nsv905576 16 21118779 21527771 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586526 S 6533 1 0 ANKS4B,CRYM,CRYM-AS1,LOC100190986,LOC100271836,METTL9,NPIPL3,RUNDC2B,SLC7A5P2,ZP2 IS37848 nsv524978 16 21130097 21136776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701007 S 2026 0 1 ZP2 esv270257 16 21146534 21146872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514598,essv2517491,essv2518693,essv2515546,essv2518152,essv2514490 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA12045,NA12815,NA12872,NA12874 nsv103721 16 21146569 21146569 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122299 M 24 "" esv34235 16 21195086 21905052 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986827,essv6979248 M 771 1 0 CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,PDZD9,RRN3P1,RUNDC2B,SLC7A5P2,UQCRC2 NA18517 nsv526247 16 21211648 21234774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702519 S 2026 0 1 CRYM,CRYM-AS1 dgv830e1 16 21212772 21856623 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1865,essv2390,essv18187,essv20260,essv24851,essv11963,essv17363,essv8138,essv12225,essv20072,essv15108,essv12304,essv13632,essv16698,essv14772,essv19958,essv20994,essv23897,essv16202,essv19579,essv17772,essv18705,esv814,essv18942,essv16058,essv2288,essv5289 M 271 0 0 CRYM,CRYM-AS1,IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,RUNDC2B,SLC7A5P2 NA06991,NA07000,NA07048,NA10831,NA12005,NA12057,NA12144,NA12813,NA12814,NA12864,NA12874,NA18501,NA18517,NA18624,NA18966,NA18976,NA19101,NA19127,NA19129,NA19138,NA19142,NA19159,NA19161,NA19206 nsv827583 16 21256514 21269488 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426165 S 31 0 1 RUNDC2B AK4 nsv905577 16 21263921 21432989 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592706 S 6533 1 0 LOC100190986,LOC100271836,NPIPL3,RUNDC2B IS39243 nsv905578 16 21263921 21506626 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513058 S 6533 1 0 LOC100190986,LOC100271836,NPIPL3,RUNDC2B,SLC7A5P2 SP55671 nsv433437 16 21273056 21484934 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463318 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC100190986,LOC100271836,NPIPL3,RUNDC2B,SLC7A5P2 NA12156 nsv827584 16 21315719 21510870 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428678,nssv1429442,nssv1427091 M 31 3 0 LOC100190986,LOC100271836,NPIPL3,SLC7A5P2 AK10,AK12,AK6 esv25717 16 21315719 21856627 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11530,esv20712,esv19523,esv20752,esv17601,esv20997,esv15471 M 451 32 1 IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2 NA06985,NA07037,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9394 16 21320606 21323839 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22724,nssv23975,nssv23194,nssv23619,nssv22607,nssv25892 M 31 6 0 Samples from several populations that are part of the HapMap project. NPIPL3 NA18552,NA18563,NA18972,NA19007,NA19144,NA19173 nsv433438 16 21332845 21837178 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463319 S 9 1 0 Samples from several populations that are part of the HapMap project. IGSF6,LOC100190986,LOC100271836,METTL9,NPIPL3,OTOA,RRN3P1,SLC7A5P2 NA18517 nsv9395 16 21335940 21342398 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27783 S 31 1 0 Samples from several populations that are part of the HapMap project. NPIPL3 NA19221 nsv9396 16 21369629 21371765 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26059 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC100271836 NA18517 esv33799 16 21382569 21501102 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95087,essv94708,essv100520 M 51 0 3 LOC100271836,SLC7A5P2 21721,21791,22298 nsv905579 16 21392894 21647732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512950 S 6533 1 0 IGSF6,LOC100271836,METTL9,OTOA,SLC7A5P2 SP55655 nsv9397 16 21394254 21717876 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21842,nssv27790,nssv22608,nssv22637,nssv22995,nssv26078,nssv24032,nssv24122,nssv25221,nssv25913,nssv26687,nssv25934,nssv23647,nssv22383,nssv22578,nssv20255,nssv22859,nssv20801,nssv20200,nssv22783,nssv26266 M 31 18 1 Samples from several populations that are part of the HapMap project. IGSF6,LOC100271836,METTL9,OTOA,RRN3P1,SLC7A5P2 NA07029,NA07048,NA10839,NA10847,NA12155,NA12802,NA12872,NA18504,NA18517,NA18552,NA18563,NA18564,NA18860,NA18972,NA18980,NA19132,NA19144,NA19173,NA19221 nsv905580 16 21406245 21506626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515961,nssv1504453 M 6533 0 2 LOC100271836,SLC7A5P2 SP52497,SP56330 dgv2642n71 16 21406245 21655191 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905583,nsv905581 M 6533 0 4 IGSF6,LOC100271836,METTL9,OTOA,SLC7A5P2 IS35581,IS35768,MS11257,MS18620 nsv509606 16 21406662 21487224 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621023 S 4 1 0 LOC100271836,SLC7A5P2 NA15510 essv17266 16 21408063 21559206 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100271836,METTL9,SLC7A5P2 NA18503 dgv831e1 16 21408063 21698983 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22977,essv7389,essv12589,essv7534,essv11241,essv7826,essv9076,essv24781,essv16855,essv15236,essv18104,essv15624,essv9746,essv20589,essv16150,essv4957 M 271 0 0 IGSF6,LOC100271836,METTL9,OTOA,SLC7A5P2 NA07056,NA07357,NA10860,NA11993,NA18545,NA18558,NA18623,NA18637,NA18912,NA18913,NA19094,NA19098,NA19100,NA19132,NA19204,NA19205 dgv832e1 16 21408063 21833734 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22295,essv16995,essv22665,essv4426,essv860,essv10054,essv9232,essv22911,essv24904,essv11717,essv20402,essv8812,essv11517,essv24696,essv4082,essv19460,essv6276,essv24492,essv2092,essv3240,essv25000,essv14499,essv18248,essv17107,essv6019,essv3364,essv14300,essv12671,essv23588,essv15862,essv344 M 271 0 0 IGSF6,LOC100190986,LOC100271836,METTL9,OTOA,RRN3P1,SLC7A5P2 NA06985,NA06994,NA10830,NA10839,NA10846,NA11829,NA11840,NA12006,NA12752,NA12760,NA12802,NA18500,NA18508,NA18571,NA18573,NA18635,NA18636,NA18945,NA18949,NA18971,NA18974,NA19000,NA19099,NA19128,NA19144,NA19154,NA19171,NA19173,NA19194,NA19202,NA19223 nsv428322 16 21408063 21936615 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453010,nssv453007,nssv453009,nssv453006 M 62 4 0 C16orf52,IGSF6,LOC100190986,LOC100271836,METTL9,OTOA,PDZD9,RRN3P1,SLC7A5P2,UQCRC2 HGDP00462,HGDP01087,HGDP01088,NA19113 esv2421840 16 21422575 21498841 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5006628,essv5059863,essv5032785,essv5086829,essv5018958,essv5064578,essv5071613,essv5016411,essv5013713,essv5033955,essv5160071,essv5060894,essv5081237,essv5051411,essv5041614,essv5024863,essv5054983,essv5138641,essv5061317,essv5103017,essv5076245,essv5008657,essv5115463,essv5073714,essv5021794,essv5118384,essv5009014,essv5081156,essv5117960,essv5110864,essv5153281,essv5038548,essv5021020,essv5013111,essv5037481,essv5010399,essv5099507,essv5049036,essv5150849,essv5151106,essv5012237,essv5033066,essv5073665,essv5146501,essv5049734,essv5142087,essv5006081,essv5092455,essv5098214,essv5084921,essv5124025,essv5075065,essv5121750,essv5017742,essv5078629,essv5132262,essv5100016,essv5033845,essv5102892,essv5141523,essv5049444,essv5121107,essv5068618,essv5147150,essv5082475,essv5138658,essv5003990,essv5073839,essv5051482,essv5142767,essv5106056,essv5155404,essv5129787,essv5026198,essv5097910,essv5062202,essv5089264,essv5094675,essv5137326,essv5053995,essv5147225,essv5102833,essv5045591,essv5112529,essv5145692,essv5133102,essv5126320,essv5080269,essv5033844,essv5133254,essv5076821,essv5124373,essv5015589,essv5069731,essv5108520,essv5033849,essv5071780,essv5094699,essv5076179,essv5043423,essv5039466,essv5127946,essv5082819,essv5005401,essv5154913,essv5029629,essv5082889,essv5139713,essv5119565,essv5042906,essv5111980,essv5046783,essv5090891,essv5082383,essv5022803,essv5145196,essv5075514,essv5112693,essv5099517,essv5051216,essv5025949,essv5066849,essv5101050,essv5035003,essv5003586,essv5096095,essv5141681,essv5124238,essv5100053,essv5063172,essv5053874,essv5083508,essv5063883,essv5137523,essv5049560,essv5036463,essv5013643,essv5007751,essv5129356,essv5043649,essv5048445,essv5119969,essv5104551,essv5070281,essv5079977,essv5122074,essv5152265,essv5084032,essv5121098,essv5141240,essv5092346,essv5025857,essv5140674,essv5069804,essv5077338,essv5116172,essv5130443,essv5102989,essv5090002,essv5051970,essv5076442,essv5107307,essv5063780,essv5006115,essv5028492,essv5148142,essv5013901,essv5098099,essv5095664,essv5117548,essv5112578,essv5033992,essv5051235,essv5007445,essv5047135,essv5039748,essv5029579,essv5082264,essv5079755,essv5078477,essv5145130,essv5150103,essv5089585,essv5041846,essv5053110,essv5089646,essv5015093,essv5015092,essv5112718,essv5070639,essv5068345,essv5126389,essv5061988,essv5019583,essv5132227,essv5082843,essv5115538,essv5018092,essv5037020,essv5129075,essv5117675,essv5087167,essv5025027,essv5041702,essv5137874,essv5026052 M 1184 0 206 SLC7A5P2 NA07031,NA07347,NA07349,NA10835,NA10840,NA10852,NA10854,NA10855,NA10856,NA10863,NA10864,NA11830,NA11832,NA11839,NA11840,NA11894,NA12003,NA12056,NA12154,NA12248,NA12264,NA12287,NA12335,NA12341,NA12707,NA12708,NA12716,NA12740,NA12749,NA12750,NA12767,NA12776,NA12777,NA12830,NA12877,NA17965,NA17975,NA17990,NA17996,NA17998,NA18101,NA18107,NA18109,NA18112,NA18127,NA18129,NA18131,NA18132,NA18136,NA18151,NA18160,NA18166,NA18529,NA18537,NA18543,NA18550,NA18555,NA18557,NA18561,NA18564,NA18566,NA18572,NA18576,NA18577,NA18579,NA18582,NA18602,NA18603,NA18605,NA18611,NA18616,NA18619,NA18620,NA18621,NA18622,NA18632,NA18634,NA18638,NA18639,NA18641,NA18642,NA18682,NA18685,NA18694,NA18696,NA18749,NA18923,NA18939,NA18942,NA18944,NA18949,NA18951,NA18952,NA18956,NA18960,NA18965,NA18966,NA18971,NA18975,NA18977,NA18990,NA18994,NA18998,NA19000,NA19010,NA19055,NA19058,NA19059,NA19064,NA19065,NA19068,NA19074,NA19078,NA19079,NA19081,NA19087,NA19180,NA19315,NA19327,NA19466,NA19473,NA19625,NA19649,NA19650,NA19654,NA19669,NA19681,NA19683,NA19708,NA19713,NA19716,NA19723,NA19726,NA19756,NA19757,NA19760,NA19762,NA19771,NA19772,NA19780,NA19782,NA19784,NA19788,NA19790,NA19794,NA19796,NA19983,NA19985,NA20294,NA20301,NA20506,NA20516,NA20520,NA20543,NA20588,NA20755,NA20765,NA20766,NA20803,NA20804,NA20807,NA20826,NA20846,NA20850,NA20851,NA20853,NA20856,NA20858,NA20866,NA20869,NA20871,NA20872,NA20874,NA20881,NA20883,NA20896,NA20901,NA20902,NA20906,NA20907,NA20909,NA21098,NA21101,NA21102,NA21106,NA21107,NA21109,NA21137,NA21142,NA21302,NA21309,NA21333,NA21339,NA21438,NA21439,NA21453,NA21517,NA21575,NA21582,NA21620,NA21635,NA21636,NA21689,NA21740,NA21768,NA21776 nsv442716 16 21422575 21498841 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC7A5P2 esv2651779 16 21428319 21500036 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230316 S 1 1 0 SLC7A5P2 NA18507 dgv2643n71 16 21432989 21600765 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905582,nsv905584 M 6533 2 0 IGSF6,METTL9,OTOA,SLC7A5P2 IS33552,SP54471 dgv466n67 16 21436992 21501273 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827588,nsv827585,nsv827590 M 31 10 0 SLC7A5P2 AK14,AK18,NA18526,NA18542,NA18552,NA18570,NA18969,NA18973,NA18997,NA18999 nsv827589 16 21437192 21493683 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426166 S 31 0 1 SLC7A5P2 AK4 esv2751551 16 21441800 21647800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988497,essv6982155,essv6982156 M 771 1 0 IGSF6,METTL9,OTOA BEC_397 esv34544 16 21441800 21905052 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990206,essv6978192,essv6978191 M 771 1 0 IGSF6,LOC100190986,METTL9,OTOA,PDZD9,RRN3P1,UQCRC2 NA18976 esv2751552 16 21441805 21647775 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983235,essv6983236,essv6989761 M 771 0 1 IGSF6,METTL9,OTOA BEC_558 dgv116e55 16 21441805 21808808 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751554,esv2751553 M 771 0 2 IGSF6,LOC100190986,METTL9,OTOA,RRN3P1 BEC_541,BEC_792 nsv1763 16 21442161 21480215 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7239 S 9 0 1 "" NA12156 nsv819828 16 21444508 21493241 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418744 S 2 1 0 "" AK1 nsv7280 16 21464094 22618248 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4205,nssv9525,nssv10950,nssv10949,nssv9526,nssv4204,nssv9313,nssv6662,nssv1301,nssv6663,nssv10085,nssv5594,nssv5593 M 9 0 0 C16orf52,CDR2,EEF2K,IGSF6,LOC100132247,LOC100190986,LOC641298,LOC653786,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA12156,NA12878,NA15510,NA18507,NA18517,NA18956,NA19129,NA19240 nsv827591 16 21476482 21493683 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425355 S 31 0 1 "" AK2 nsv827592 16 21476482 21501273 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437791,nssv1440687 M 31 0 2 "" NA18564,NA18949 nsv514799 16 21476680 21487380 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628253 S 1414 1 0 "" dgv347n27 16 21482719 21647775 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457446,nsv457445,nsv457450 M 1557 3 0 IGSF6,METTL9,OTOA 1780854129_A,1782681142_A,NINDS_116 dgv348n27 16 21482719 21647775 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457447,nsv457448,nsv457458,nsv457449,nsv457451 M 1557 0 5 IGSF6,METTL9,OTOA 1780854463_A,1780862001_A,1780862399_A,HGDP00697,HGDP00727 nsv471086 16 21482719 21647775 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545284,nssv545285 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGSF6,METTL9,OTOA HGDP00697,HGDP00700 nsv517713 16 21482719 21647775 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694215,nssv684474,nssv652928,nssv702216 M 2026 1 3 IGSF6,METTL9,OTOA nsv817726 16 21482719 21647775 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416502 S 112 1 0 IGSF6,METTL9,OTOA NA18517 dgv2644n71 16 21484934 21666197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905587,nsv905591,nsv905589,nsv905585 M 6533 0 5 IGSF6,METTL9,OTOA IS34434,MS17689,SP50927,SP54734,SP80924 dgv3n1 16 21485316 22595351 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis nsv141,nsv140 M 1 0 0 C16orf52,CDR2,EEF2K,IGSF6,LOC100132247,LOC100190986,LOC641298,LOC653786,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA15510 nsv511047 16 21487224 22432321 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622416,nssv624350 M 4 0 0 C16orf52,CDR2,EEF2K,IGSF6,LOC100190986,LOC641298,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA10860,NA18994 dgv2645n71 16 21493526 21655191 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905588,nsv905592 M 6533 5 5 IGSF6,METTL9,OTOA IS30645,IS41908,MS12331,MS15342,MS18005,SP50110,SP52740,SP53330,SP54524,SP81141 dgv2646n71 16 21493526 21655191 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905586,nsv905593,nsv905595,nsv905594 M 6533 5 0 IGSF6,METTL9,OTOA IS38313,MS13253,MS21159,MS23983,SP81459 nsv905590 16 21493526 21756080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588409 S 6533 1 0 IGSF6,METTL9,OTOA,RRN3P1 IS38191 dgv47n16 16 21500239 22615829 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435955,nsv436665 M 2 0 0 C16orf52,CDR2,EEF2K,IGSF6,LOC100132247,LOC100190986,LOC641298,LOC653786,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA15510,NA18505 nsv499139 16 21501943 22618252 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585516 S 9 0 0 C16orf52,CDR2,EEF2K,IGSF6,LOC100132247,LOC100190986,LOC641298,LOC653786,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A esv998989 16 21501943 22620002 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565267 S 3 0 0 C16orf52,CDR2,EEF2K,IGSF6,LOC100132247,LOC100190986,LOC641298,LOC653786,METTL9,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A HuRef dgv2n29 16 21509119 21691210 CNV Loss Locke et al 2006 16826518 BAC_aCGH nsv469634,nsv469872 M 265 0 13 IGSF6,METTL9,OTOA dgv833e1 16 21509128 21698983 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4477,essv6307,essv13874 M 271 0 0 IGSF6,METTL9,OTOA NA18552,NA18609,NA18854 essv3313 16 21527771 21647775 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. IGSF6,METTL9,OTOA NA18948 nsv457460 16 21573817 21647775 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534645 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations METTL9,OTOA HGDP00700 nsv833167 16 21614282 21787052 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452417 S 95 1 0 LOC100190986,OTOA,RRN3P1 nsv820589 16 21634210 21728519 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421166 S 1 1 0 OTOA,RRN3P1 NA10851 nsv905596 16 21635891 21655191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507115 S 6533 1 0 OTOA SP54471 dgv48n16 16 21649355 22470805 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436837,nsv436061 M 2 2 0 C16orf52,CDR2,EEF2K,LOC100132247,LOC100190986,LOC641298,LOC653786,OTOA,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA15510,NA18505 nsv1764 16 21682239 22544204 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9527,nssv5595 M 9 0 2 C16orf52,CDR2,EEF2K,LOC100132247,LOC100190986,LOC641298,LOC653786,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA18507,NA19129 nsv435668 16 21694370 22510343 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465541 S 2 0 1 C16orf52,CDR2,EEF2K,LOC100132247,LOC100190986,LOC641298,LOC653786,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A NA15510 nsv498860 16 21698840 22516101 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585721 S 9 0 1 C16orf52,CDR2,EEF2K,LOC100132247,LOC100190986,LOC641298,LOC653786,PDZD9,POLR3E,RRN3P1,RRN3P3,UQCRC2,VWA3A nsv9398 16 21753014 21756290 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23675,nssv22580,nssv25985,nssv22667,nssv24059,nssv22812,nssv23222 M 31 7 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18853,NA18972,NA19007,NA19144,NA19173 nsv9399 16 21768405 21774676 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27797 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv9400 16 21780451 21781630 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22841 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv9401 16 21826045 21851618 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22638 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 dgv2647n71 16 21843228 22343312 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905599,nsv905597 M 6533 0 2 C16orf52,CDR2,EEF2K,PDZD9,POLR3E,RRN3P3,UQCRC2,VWA3A IS36798,IS40227 nsv905598 16 21854731 22189651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563737 S 6533 1 0 C16orf52,EEF2K,PDZD9,UQCRC2,VWA3A IS30054 nsv519813 16 21856623 22331199 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695314,nssv658877,nssv695061,nssv695062,nssv697409,nssv679842,nssv700459,nssv702569,nssv696247,nssv699427,nssv695497 M 2026 3 8 C16orf52,CDR2,EEF2K,PDZD9,POLR3E,UQCRC2,VWA3A nsv469628 16 21973871 22123888 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649553 M 265 1 0 Samples from several populations that are part of the HapMap project. C16orf52,VWA3A nsv469818 16 22030947 22180948 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649839 M 265 0 0 Samples from several populations that are part of the HapMap project. EEF2K,VWA3A nsv9403 16 22107905 22118850 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27804 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv834e1 16 22201625 22679810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21062,esv550 M 271 0 0 CDR2,EEF2K,LOC100132247,LOC100190986,LOC641298,LOC653786,POLR3E,RRN3P3 NA06991 nsv9404 16 22292157 22294355 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22668,nssv26698 M 31 2 0 Samples from several populations that are part of the HapMap project. CDR2 NA18564,NA18860 esv995324 16 22312211 22318447 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564033 S 3 0 1 "" HuRef dgv835e1 16 22313312 22679810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18669,essv2549,essv1825,essv2021,essv7393,essv19952,essv22591,essv903,essv2761,essv2529,essv8608,essv7558,essv24648,essv13659,essv13608,essv2882,essv20246,essv15117,essv20099,essv18460,essv21685,essv8846,essv20438,essv76,essv17333,essv11691,essv16447,essv16713,essv289,essv16233,essv4418,essv9914,essv17006,essv22320,essv5103,essv14744,essv17121,essv18205,essv12290,essv19390,essv24856,essv22880,essv13093,essv25190,essv17828,essv24522,essv24924,essv15276,essv2670,essv20354,essv23964,essv25011,essv12860,essv15359,essv19570,essv15669,essv15473,essv21504,essv9748,essv21530,essv12727,essv18698,essv15883,essv4594,essv6009,essv6661,essv14557,essv432,essv11238,essv12184,essv18978,essv16063,essv22636,essv23598,essv5285,essv1118,essv2300,essv23101,essv20111,essv347,essv3229 M 271 0 0 LOC100132247,LOC100190986,LOC641298,LOC653786,RRN3P3 NA06985,NA06994,NA07000,NA07048,NA07345,NA07348,NA10830,NA10831,NA10839,NA11829,NA11832,NA11840,NA12003,NA12005,NA12006,NA12043,NA12056,NA12057,NA12144,NA12236,NA12248,NA12752,NA12760,NA12802,NA12813,NA12814,NA12864,NA12873,NA12874,NA18501,NA18505,NA18508,NA18524,NA18545,NA18571,NA18573,NA18577,NA18608,NA18623,NA18624,NA18852,NA18856,NA18862,NA18912,NA18913,NA18914,NA18949,NA18952,NA18953,NA18964,NA18966,NA18967,NA18971,NA18974,NA18976,NA18978,NA18991,NA19000,NA19003,NA19094,NA19101,NA19119,NA19120,NA19127,NA19129,NA19138,NA19139,NA19142,NA19144,NA19145,NA19154,NA19159,NA19161,NA19171,NA19202,NA19204,NA19223,NA19239 nsv428324 16 22338076 22679810 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453035,nssv453032,nssv453024,nssv453030,nssv453016,nssv453011,nssv453012,nssv453029,nssv453036,nssv453033,nssv453025,nssv453022,nssv453023,nssv453034,nssv453027,nssv453015,nssv453028,nssv453013,nssv453026,nssv453021,nssv453017,nssv453018,nssv453014 M 62 23 0 LOC100132247,LOC100190986,LOC641298,LOC653786,RRN3P3 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv433439 16 22351124 22516508 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463320 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC100132247,LOC100190986,LOC641298,LOC653786,RRN3P3 NA19240 esv25819 16 22352345 22619691 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13175,esv16309 M 451 32 0 LOC100132247,LOC100190986,LOC641298,LOC653786,RRN3P3 NA06985,NA07037,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9405 16 22355697 22455708 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23250,nssv27811,nssv22870,nssv26097,nssv22610,nssv22697,nssv22696,nssv26005,nssv24086 M 31 8 1 Samples from several populations that are part of the HapMap project. LOC100132247,LOC100190986,LOC641298,RRN3P3 NA18517,NA18552,NA18563,NA18564,NA18853,NA18972,NA19007,NA19144,NA19221 esv32980 16 22355698 22633240 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95110,essv94715,essv95864,essv100529,essv100344 M 51 0 5 LOC100132247,LOC100190986,LOC641298,LOC653786,RRN3P3 21721,21791,21911,22298,22300 nsv905600 16 22357384 22603324 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513766 S 6533 1 0 LOC100132247,LOC100190986,LOC641298,LOC653786 SP55842 nsv833168 16 22371369 22506131 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452418,nssv1452420,nssv1452419 M 95 1 2 LOC100132247,LOC100190986,LOC641298,LOC653786 nsv469882 16 22387835 22593523 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649903 M 265 0 11 Samples from several populations that are part of the HapMap project. LOC100132247,LOC100190986,LOC641298,LOC653786 nsv471691 16 22387836 22593523 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551141,nssv551146,nssv551156,nssv551147,nssv551145,nssv551142,nssv551139,nssv551143,nssv551157,nssv551140,nssv551149,nssv551148,nssv551155,nssv551151,nssv551153,nssv551150,nssv551154,nssv551152,nssv551144 M 48 18 1 LOC100132247,LOC100190986,LOC641298,LOC653786 JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10492,NA10493,NA10494,NA10495,NA10971,NA11323,NA11521,NA17014,NA17017,NA17052,P86GA nsv433440 16 22397402 22491228 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463321 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC100132247,LOC100190986,LOC641298,LOC653786 NA18517 dgv33n68 16 22403344 22614048 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833169,nsv833172 M 95 0 7 LOC100132247,LOC100190986,LOC641298,LOC653786 nsv833171 16 22421632 22589139 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452428,nssv1452423,nssv1452424,nssv1452422,nssv1452426,nssv1452425,nssv1452427,nssv1452429 M 95 1 7 LOC100132247,LOC100190986,LOC653786 nsv471386 16 22432345 22455329 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548129,nssv548131,nssv548130 M 3 LOC100132247 nsv827593 16 22451234 22620182 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435451,nssv1430947,nssv1436198,nssv1430508,nssv1439307,nssv1429443,nssv1422863,nssv1433272,nssv1422984,nssv1424584,nssv1427881,nssv1432457,nssv1438470,nssv1429940,nssv1439992,nssv1422559 M 31 16 0 LOC100132247,LOC653786 AK12,AK16,AK20,AK8,NA18537,NA18547,NA18552,NA18566,NA18582,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973 nsv820453 16 22451234 22621097 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421167 S 1 1 0 LOC100132247,LOC653786 NA10851 nsv9406 16 22455152 22623716 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23023,nssv24148,nssv26739,nssv26116,nssv20230,nssv24113,nssv21872,nssv22443,nssv22888,nssv20285,nssv25246,nssv27818,nssv26025,nssv22899,nssv22725,nssv22726,nssv20831,nssv25032,nssv23733 M 31 18 1 Samples from several populations that are part of the HapMap project. LOC100132247,LOC653786 NA07029,NA07048,NA10839,NA10847,NA12155,NA12802,NA12872,NA18504,NA18517,NA18552,NA18563,NA18564,NA18860,NA18972,NA18980,NA19144,NA19173,NA19221,NA19240 nsv905601 16 22460583 22578087 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558564,nssv1563668,nssv1537544 M 6533 2 1 LOC653786 MS13241,MS23356,MS26151 nsv905602 16 22460583 22581356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558879 S 6533 0 1 LOC653786 MS23587 dgv2648n71 16 22460583 22696351 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905603,nsv905604 M 6533 3 0 LOC653786 MS13093,MS15973,MS17359 nsv442717 16 22465433 22612022 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC653786 dgv836e1 16 22466298 22631165 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22287,essv17874,essv5866,essv20828,essv20449,essv13827,essv20506,essv18808,essv5946,essv1704 M 271 0 0 LOC653786 NA06994,NA10855,NA10857,NA12248,NA12716,NA12762,NA18555,NA18577,NA18853,NA18968 nsv905605 16 22494094 22620480 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540636 S 6533 1 0 LOC653786 MS14940 dgv2649n71 16 22494094 22696351 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905621,nsv905635,nsv905628,nsv905619,nsv905606,nsv905620,nsv905627,nsv905611 M 6533 30 0 LOC653786 IS31169,IS39788,MS10378,MS10727,MS11105,MS14835,MS15269,MS15515,MS15856,MS16325,MS16477,MS16898,MS17126,MS17562,MS17730,MS17900,MS18510,MS18599,MS18886,MS18976,MS19304,MS20251,MS20947,MS22797,MS23423,MS24508,MS25284,MS25814,MS26100,SP55269 dgv837e1 16 22503592 22679810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3083,essv10492,essv10303,essv22963,essv8432,essv3959,essv20189,essv12491,essv2485,essv6998,essv23229,essv6352,essv6170,essv23499,essv3346,essv13737,essv19609,essv12559,essv10070,essv8768,essv8285,essv24768,essv21757,essv4128,essv12378,essv3770,essv7827,essv18365,essv13200,essv14186,essv4460,essv14596,essv10999,essv16885,essv10224,essv6748,essv16115,essv21976,essv24070,essv1759,essv8241,essv14453,essv16532,essv10419,essv14343,essv5306,essv23973,essv20807,essv13449,essv4067,essv6259,essv11540,essv10134,essv4973,essv9411,essv13891,essv10688,essv11167,essv10537,essv24589,essv13003,essv4613,essv9115,essv18145,essv9753,essv9087,essv14961,essv18344,essv10831,essv16751,essv10907,essv18282,essv11762,essv17081,essv23830,essv3793,essv10804,essv15566,essv9251,essv23204,essv20557,essv21462,essv12642,essv1954,essv14126,essv17267,essv22201 M 271 0 0 "" NA07022,NA07029,NA07034,NA07056,NA07357,NA10846,NA10859,NA10860,NA11832,NA11992,NA11993,NA11994,NA11995,NA12044,NA12146,NA12155,NA12156,NA12239,NA12249,NA12716,NA12717,NA18500,NA18503,NA18504,NA18506,NA18515,NA18516,NA18523,NA18532,NA18552,NA18555,NA18558,NA18562,NA18563,NA18594,NA18609,NA18612,NA18635,NA18636,NA18637,NA18854,NA18855,NA18859,NA18860,NA18861,NA18863,NA18870,NA18871,NA18872,NA18943,NA18945,NA18959,NA18961,NA18969,NA18970,NA18997,NA18999,NA19092,NA19093,NA19098,NA19099,NA19100,NA19102,NA19103,NA19116,NA19128,NA19130,NA19132,NA19137,NA19140,NA19143,NA19152,NA19153,NA19172,NA19173,NA19192,NA19194,NA19201,NA19205,NA19207,NA19208,NA19209,NA19210,NA19211,NA19222,NA19238,NA19240 esv2422454 16 22513379 22620282 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161524 S 181 0 1 "" ND03971 dgv2650n71 16 22516724 22594690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905623,nsv905607,nsv905613 M 6533 0 3 "" MS13168,SP53242,SP54822 dgv2651n71 16 22516724 22635346 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905625,nsv905608,nsv905618,nsv905616,nsv905632,nsv905610,nsv905633 M 6533 0 15 "" IS36241,IS38315,IS39341,IS40343,SP50038,SP50156,SP51147,SP51427,SP54469,SP54652,SP54761,SP55027,SP56144,SP57268,SP80955 dgv2652n71 16 22521490 22610270 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905609,nsv905631 M 6533 2 2 "" MS11084,SP51450,SP53759,SP56505 esv2643037 16 22530052 22617332 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255512 S 1 1 0 "" NA18507 dgv467n67 16 22530055 22618091 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827596,nsv827594,nsv827597 M 31 10 0 "" AK10,AK14,AK18,AK6,NA18526,NA18542,NA18570,NA18592,NA18997,NA18999 nsv827595 16 22530055 22621097 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426167 S 31 0 1 "" AK4 dgv2653n71 16 22530298 22604928 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905614,nsv905630,nsv905615,nsv905629,nsv905624,nsv905612 M 6533 12 0 "" SP50137,SP52019,SP52124,SP54510,SP55573,SP55647,SP55660,SP55698,SP55749,SP56234,SP56307,SP57274 dgv2654n71 16 22530298 22646184 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905617,nsv905634,nsv905626 M 6533 4 0 "" MS10735,MS11002,MS14495,MS16309 nsv1765 16 22530626 22542368 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7240 S 9 1 0 "" NA12156 nsv905622 16 22533137 22582434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516701 S 6533 0 1 "" SP56913 dgv838e1 16 22533137 22598822 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4324,essv1811 M 271 0 0 "" NA18564,NA18971 dgv839e1 16 22533137 22631165 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5697,essv3632,essv6054,essv925,essv517 M 271 0 0 "" NA18550,NA18603,NA18949,NA18952,NA18966 nsv819485 16 22533269 22620204 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418764 S 2 1 0 "" AK1 nsv821683 16 22533886 22670853 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421315,nssv1421316 M 31 2 0 "" nsv514800 16 22541922 22611060 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628254 S 1414 1 0 "" nsv905636 16 22557770 22620480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516680 S 6533 0 1 "" SP56890 dgv2655n71 16 22564395 22610270 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905638,nsv905637 M 6533 2 0 "" SP52117,SP54383 esv2301064 16 22565290 22565721 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001518 S 1 0 1 "" NA18507 dgv2656n71 16 22573692 22610270 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905643,nsv905641,nsv905640,nsv905648,nsv905639 M 6533 9 0 "" SP52017,SP54389,SP55856,SP56231,SP56260,SP56289,SP57208,SP57368,SP57455 nsv905642 16 22573692 22620480 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505770,nssv1500159 M 6533 1 1 "" SP50120,SP53964 dgv2657n71 16 22578087 22696351 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905647,nsv905649,nsv905644,nsv905645,nsv905646 M 6533 12 0 "" MS14653,MS15752,MS19630,MS20229,MS20987,MS22854,MS23981,MS24587,MS24939,MS25406,MS25888,MS26119 nsv471087 16 22581355 22696351 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545311,nssv545303,nssv545302,nssv545290,nssv545289,nssv545306,nssv545299,nssv545297,nssv545305,nssv545301,nssv545308,nssv545291,nssv545310,nssv545294,nssv545295,nssv545288,nssv545307,nssv545292,nssv545296,nssv545293,nssv545286,nssv545304,nssv545300 M 443 23 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00491,HGDP00542,HGDP00543,HGDP00544,HGDP00546,HGDP00547,HGDP00548,HGDP00549,HGDP00550,HGDP00551,HGDP00553,HGDP00554,HGDP00556,HGDP00655,HGDP00656,HGDP00657,HGDP00661,HGDP00662,HGDP00664,HGDP00787,HGDP00789,HGDP00825,HGDP00978 dgv349n27 16 22581356 22685278 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457465,nsv457464,nsv457461,nsv457462 M 1557 4 0 "" HGDP00543,HGDP00544,HGDP00547,HGDP00664 dgv2658n71 16 22594690 22685278 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905654,nsv905651,nsv905650,nsv905652,nsv905657 M 6533 7 0 "" MS17450,MS17964,MS19502,MS21020,MS21550,MS22928,MS24444 dgv2659n71 16 22594690 22696351 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905662,nsv905653,nsv905655,nsv905658,nsv905659 M 6533 33 0 "" IS30490,IS31317,IS37337,IS37771,IS39627,MS10228,MS10591,MS10674,MS11241,MS12630,MS13500,MS14264,MS14361,MS15220,MS15554,MS16036,MS16334,MS18255,MS18552,MS19035,MS19582,MS19886,MS20073,MS21738,MS21863,MS22639,MS23356,MS23542,MS24172,MS24729,MS25052,MS25163,SP50554 nsv905656 16 22610270 22651304 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542840 S 6533 1 0 "" MS15916 dgv2660n71 16 22620480 22685278 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905665,nsv905661,nsv905660,nsv905664,nsv905667,nsv905666 M 6533 16 0 "" MS11022,MS11352,MS12005,MS12406,MS14591,MS14755,MS14897,MS17394,MS17399,MS18999,MS19584,MS23541,MS23703,MS23796,MS25193,MS25509 dgv350n27 16 22620480 22685278 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457478,nsv457469,nsv457466,nsv457472,nsv457467,nsv457470,nsv457477,nsv457476,nsv457468,nsv457473,nsv457475 M 1557 11 0 "" HGDP00542,HGDP00545,HGDP00548,HGDP00550,HGDP00554,HGDP00556,HGDP00655,HGDP00656,HGDP00662,HGDP00787,HGDP01027 nsv905663 16 22627867 22668168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563149 S 6533 1 0 "" MS25885 dgv2661n71 16 22627867 22700629 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905675,nsv905676,nsv905668,nsv905671,nsv905672 M 6533 101 0 "" IS30255,MS10174,MS10280,MS10592,MS10720,MS10729,MS10871,MS10959,MS10970,MS11064,MS11157,MS11389,MS11431,MS11435,MS11454,MS11663,MS12170,MS12345,MS12648,MS12667,MS12782,MS12991,MS13219,MS13257,MS13384,MS13441,MS13461,MS13487,MS13502,MS13716,MS13771,MS14209,MS14247,MS14384,MS14526,MS14610,MS14630,MS14658,MS14708,MS14717,MS14724,MS14939,MS15014,MS15485,MS15610,MS15749,MS15867,MS16049,MS16573,MS16677,MS16796,MS16902,MS16959,MS17193,MS17232,MS17825,MS17986,MS18288,MS18392,MS18462,MS18722,MS18819,MS18959,MS19143,MS19466,MS20011,MS20037,MS20254,MS20269,MS20356,MS20406,MS20459,MS20510,MS20690,MS20812,MS20860,MS21136,MS21732,MS21866,MS21924,MS22177,MS22494,MS24135,MS24183,MS24244,MS24328,MS24427,MS24498,MS24620,MS24805,MS24969,MS25092,MS25112,MS25294,MS25377,MS25451,MS25519,MS25564,MS25700,MS25884,MS25887 dgv2662n71 16 22635346 22685278 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905677,nsv905674,nsv905670,nsv905669,nsv905673 M 6533 10 0 "" MS11191,MS12561,MS13114,MS14287,MS17779,MS17915,MS18077,MS18922,MS24877,MS25690 nsv817727 16 22638277 22644799 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417308 S 112 0 1 "" NA18608 nsv519620 16 22643850 22646184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657096,nssv663278,nssv696278 M 2026 0 3 "" esv1412519 16 22737702 22737755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613108 S 2 0 1 HS3ST2 HuRef nsv833173 16 22743613 22893177 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452436 S 95 0 1 HS3ST2 esv271347 16 22753482 22753816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557775,essv2571604,essv2558329,essv2577964,essv2565310,essv2576420,essv2555058,essv2530528,essv2562058,essv2557425,essv2557102,essv2550109,essv2544994,essv2524522,essv2534928,essv2521953,essv2531184,essv2532690,essv2572360,essv2539475,essv2533557,essv2534280,essv2522461,essv2531475,essv2560510,essv2538100,essv2533370,essv2547653,essv2525194 M 157 29 0 Samples from several populations that are part of the HapMap project. HS3ST2 NA07000,NA07051,NA07347,NA07357,NA10851,NA11840,NA12750,NA12761,NA12812,NA12814,NA12872,NA12873,NA12874,NA18499,NA18501,NA18511,NA18526,NA18555,NA18561,NA18571,NA18573,NA18576,NA18609,NA18912,NA18944,NA18959,NA18960,NA18961,NA19190 esv2634610 16 22763143 22765157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214924 S 1 0 1 HS3ST2 NA18507 nsv905678 16 22774184 22828353 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526496 S 6533 0 1 HS3ST2 SP57600 esv2548215 16 22815587 22817288 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378648 S 1 0 1 HS3ST2 NA18507 esv2117994 16 22816296 22816949 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935812 S 1 0 1 HS3ST2 NA18507 esv4772 16 22816426 22816869 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27213 S 1 0 1 Single Asian sample YH HS3ST2 YH nsv103335 16 22816476 22816752 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121913 M 24 HS3ST2 esv8326 16 22816478 22816748 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30767 S 1 0 1 HS3ST2 SJK esv2465026 16 22877581 22878968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234502 S 1 0 1 "" NA18507 nsv905679 16 22891356 22917075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559998 S 6533 1 0 "" MS24250 esv268564 16 22901873 22901994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495418,essv2500197,essv2509271,essv2498704 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA12006,NA18909,NA19138 esv33672 16 22952751 22953475 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95191,essv95568,essv95542,essv93086,essv95389,essv101750,essv92990,essv96177,essv97224,essv96047,essv93392,essv92553,essv100523,essv98364 M 51 0 14 "" 21721,21841,21847,21863,21872,21909,21939,22007,22075,22127,22170,22233,22298,22352 nsv511561 16 22953373 22958527 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626186 S 1 0 1 "" 1 esv2566684 16 22954632 22958632 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309694 S 1 0 1 "" NA18507 esv2445139 16 22954675 22957678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171840 S 1 0 1 "" NA18507 esv2004737 16 22955086 22957202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785434 S 1 0 1 "" NA18507 nsv512428 16 22955206 22957072 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625020 S 1 0 1 "" 1 dgv468n67 16 22955213 22957061 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827599,nsv827600,nsv827602,nsv827601 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821260 16 22955213 22957061 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421169 S 1 0 1 "" NA10851 esv3864 16 22955244 22957096 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26305 S 1 0 1 Single Asian sample YH "" YH esv8915 16 22955277 22957021 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31356 S 1 0 1 "" SJK esv29602 16 22955370 22957061 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12548 S 451 17 0 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12776,NA12828,NA15510,NA18505,NA18909,NA19129 esv33565 16 22955581 22956766 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98785,essv101210,essv95225,essv94840,essv95657,essv95558,essv93048,essv95280,essv101661,essv92962,essv96142,essv97244,essv96019,essv93266,essv95043,essv92544,essv100505,essv100340,essv98368 M 51 0 19 "" 21606,21618,21721,21791,21841,21847,21863,21872,21909,21939,22007,22075,22127,22170,22231,22233,22298,22300,22352 nsv521703 16 22993133 23022350 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698326 S 2026 1 0 USP31 esv23899 16 23067368 23068378 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10858 S 451 0 2 USP31 NA12749,NA12878 nsv1767 16 23136454 23167121 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5596 S 9 1 0 "" NA19129 esv2600690 16 23284245 23284306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332334 S 1 0 1 SCNN1B NA18507 nsv1768 16 23369108 23401526 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6664 S 9 1 0 COG7,GGA2 NA12156 esv259975 16 23373723 23374606 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397957,essv2400406,essv2400167 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12751,NA18592,NA18608 esv2535353 16 23374162 23375042 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315896 S 1 1 0 "" NA18507 esv2536944 16 23381014 23382589 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389736 S 1 0 1 GGA2 NA18507 esv993373 16 23381577 23382177 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586162 S 3 1 0 "" HuRef esv275554 16 23422574 23430274 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585848,essv2585255 M 1250 1 1 GGA2 esv990394 16 23432616 23442886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563534 S 3 0 1 EARS2 HuRef esv1921182 16 23435853 23436537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880260 S 1 0 1 "" NA18507 nsv103012 16 23436037 23436349 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121590 M 24 "" nsv819281 16 23522031 23530167 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419857 S 2 0 1 PALB2 AK1 nsv827603 16 23562129 23563079 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426169,nssv1436200,nssv1430949 M 31 0 3 DCTN5 AK16,AK4,NA18566 nsv819151 16 23562159 23569628 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419827 S 2 0 1 DCTN5 AK1 nsv510681 16 23634796 23691469 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617425 S 4 0 1 CHP2 CHM esv2451344 16 23667456 23670419 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325369 S 1 0 1 "" NA18507 nsv512429 16 23667712 23670012 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625022 S 1 0 1 "" 1 esv25251 16 23668555 23669665 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18963 S 451 0 2 "" NA18505,NA19099 nsv513447 16 23694385 23695296 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625850 S 1 1 0 "" 1 esv2115398 16 23742353 23742761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957372 S 1 0 1 "" NA18507 esv271312 16 23772767 23773102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517390,essv2517045,essv2514198,essv2514963,essv2517965,essv2514378,essv2517677,essv2516282,essv2515191,essv2519404 M 157 10 0 Samples from several populations that are part of the HapMap project. PRKCB NA07346,NA11918,NA11931,NA12043,NA12812,NA12872,NA12874,NA12878,NA12891,NA19238 esv272650 16 23772768 23773101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582241,essv2582313,essv2584200 M 7 3 0 Samples from several populations that are part of the HapMap project. PRKCB NA12878,NA12891,NA19238 esv1347038 16 23772801 23772801 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352522 S 2 1 0 PRKCB HuRef nsv103660 16 23784304 23784363 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122238 M 24 PRKCB esv2282551 16 23785676 23786026 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536078 S 1 0 1 PRKCB NA18507 nsv103651 16 23794319 23794368 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122229 M 24 PRKCB esv2654032 16 23817468 23819006 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190642 S 1 0 1 PRKCB NA18507 esv1982695 16 23818268 23818880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865298 S 1 0 1 PRKCB NA18507 esv997589 16 23818387 23818692 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584459 S 3 0 1 PRKCB HuRef esv2452495 16 23818388 23818693 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366086 S 1 0 1 PRKCB NA18507 esv1064145 16 23818388 23818694 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875378 S 2 0 1 PRKCB HuRef esv7420 16 23818390 23818692 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29861 S 1 0 1 PRKCB SJK esv23662 16 23841406 23849733 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12855 S 451 0 1 PRKCB NA06985 esv5194 16 23968171 23968490 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27635 S 1 0 1 Single Asian sample YH PRKCB YH nsv527537 16 23975709 23975815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703998 S 2026 0 1 PRKCB esv2251377 16 23977542 23977931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720483 S 1 0 1 PRKCB NA18507 nsv833174 16 23996675 24177670 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452438,nssv1452437,nssv1452439,nssv1452444,nssv1452443,nssv1452448,nssv1452441,nssv1452440,nssv1452449,nssv1452442,nssv1452446,nssv1452445,nssv1452447 M 95 13 0 CACNG3,PRKCB esv34056 16 24042613 24237802 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CACNG3,PRKCB esv2108885 16 24043743 24044144 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960348 S 1 0 1 PRKCB NA18507 esv27468 16 24051370 24055552 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17210 S 451 0 1 PRKCB NA18517 esv271292 16 24235044 24235383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514536,essv2515304,essv2518001,essv2514280,essv2517645,essv2518242,essv2519473 M 157 7 0 Samples from several populations that are part of the HapMap project. CACNG3 NA07346,NA11840,NA12249,NA12872,NA12874,NA12878,NA19240 esv272515 16 24235044 24235383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581406,essv2581205 M 7 2 0 Samples from several populations that are part of the HapMap project. CACNG3 NA12878,NA19240 esv1634914 16 24236449 24236540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940218 S 2 0 1 CACNG3 HuRef nsv523144 16 24426118 24439219 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698851 S 2026 1 0 "" nsv1769 16 24433061 24467297 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5597 S 9 0 1 RBBP6 NA19129 esv23421 16 24444236 24453871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20231,esv12817 M 451 0 6 "" NA18508,NA18523,NA18907,NA19099,NA19114,NA19129 nsv528111 16 24504517 24504671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704653 S 2026 0 1 "" nsv905680 16 24602841 24636284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503662 S 6533 0 1 "" SP52093 nsv833175 16 24765392 24999329 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452450,nssv1452451 M 95 0 2 ARHGAP17,LOC554206,SLC5A11 esv2415734 16 24771539 24771895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543680 S 1 0 1 SLC5A11 NA18507 nsv509607 16 24785030 24847349 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619684 S 4 1 0 ARHGAP17,SLC5A11 NA10860 dgv840e1 16 24850896 25094479 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv839,essv10905,essv11173 M 271 0 0 ARHGAP17,LCMT1,LOC100506655,LOC554206 NA19209,NA19211 esv273352 16 24889393 24889478 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581349 S 7 1 0 Samples from several populations that are part of the HapMap project. ARHGAP17 NA12878 nsv905681 16 24924895 24967263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557356 S 6533 0 1 ARHGAP17,LOC554206 MS22619 nsv520552 16 24957210 24957265 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680393,nssv672467 M 2026 0 2 "" esv3441 16 24973555 25045087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25882 S 1 0 1 Single Asian sample YH LCMT1 YH dgv41e19 16 24973603 25047092 CNV Loss Ahn et al 2009 19470904 Sequencing esv8067,esv8045 M 1 0 1 LCMT1 SJK essv10614 16 24976087 25044753 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LCMT1 NA19211 esv34994 16 24976087 25044753 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986028,essv6980579 M 771 1 0 LCMT1 NA19211 essv10712 16 24989785 25035978 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LCMT1 NA18508 esv1273415 16 24991121 24991210 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948592 S 2 0 1 "" HuRef nsv820298 16 25140265 25141529 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419219 S 2 1 0 AQP8 AK1 esv7985 16 25187189 25187282 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30426 S 1 1 0 "" SJK nsv833176 16 25198484 25401079 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452452,nssv1452453 M 95 0 2 "" nsv510682 16 25231176 25252417 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622705 S 4 0 1 "" NA18994 nsv833177 16 25236644 25272092 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452459,nssv1452458,nssv1452460,nssv1452456,nssv1452462,nssv1452455,nssv1452454,nssv1452461,nssv1452457 M 95 0 9 "" nsv519089 16 25237330 25261587 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694305 S 2026 0 1 "" dgv49n16 16 25246486 25253333 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435665,nsv436203 M 2 0 2 "" NA15510,NA18505 esv2598250 16 25246871 25251588 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382177 S 1 0 1 "" NA18507 esv1001369 16 25247005 25253409 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564312 S 3 0 1 "" HuRef esv2527748 16 25247069 25251354 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374062 S 1 0 1 "" NA18507 nsv512430 16 25247336 25250762 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625023 S 1 0 1 "" 1 esv2232615 16 25247479 25250819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564955 S 1 0 1 "" NA18507 nsv821128 16 25247581 25250705 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421170 S 1 0 1 "" NA10851 nsv827604 16 25247581 25250705 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431674,nssv1439994,nssv1428682,nssv1429445,nssv1422207,nssv1427883,nssv1439310,nssv1425357,nssv1426170,nssv1436201,nssv1434734,nssv1435454,nssv1430950,nssv1422987,nssv1433275,nssv1437793,nssv1430533,nssv1423085,nssv1423790,nssv1424587,nssv1422583,nssv1436241,nssv1434018,nssv1432459,nssv1427094,nssv1437065 M 31 0 26 "" AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18969,NA18972,NA18973,NA18997,NA18999 esv9470 16 25247596 25250649 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31911 S 1 0 1 "" SJK nsv498861 16 25247610 25250631 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585722 S 9 0 1 "" esv28669 16 25247611 25250595 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11617 S 451 3 24 "" NA06985,NA07037,NA11894,NA11931,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv1770 16 25260758 25268897 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5598 S 9 0 1 "" NA19129 nsv527775 16 25351789 25352058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704266 S 2026 0 1 "" esv6139 16 25377827 25377925 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28580 S 1 1 0 "" SJK nsv507810 16 25406874 25412874 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617911 S 4 1 0 "" CHM esv7926 16 25432353 25433347 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30367 S 1 0 0 "" SJK esv2258050 16 25530851 25531564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931486 S 1 0 1 "" NA18507 dgv841e1 16 25532212 25718755 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv915,esv399 M 271 0 0 HS3ST4 NA19000 esv2575590 16 25546512 25548521 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224036 S 1 0 1 "" NA18507 nsv512431 16 25546647 25547708 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625024 S 1 0 1 "" 1 esv2129373 16 25546693 25547838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895121 S 1 0 1 "" NA18507 esv5712 16 25546882 25547652 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28153 S 1 0 1 "" SJK esv989105 16 25629275 25629329 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585206 S 3 0 1 HS3ST4 HuRef esv1614178 16 25629276 25629331 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263305 S 2 0 1 HS3ST4 HuRef nsv9407 16 25659221 25661723 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23760 S 31 0 1 Samples from several populations that are part of the HapMap project. HS3ST4 NA19173 nsv521162 16 25779528 25781730 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697821 S 2026 1 0 HS3ST4 esv8601 16 25807916 25808030 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31042 S 1 1 0 HS3ST4 SJK esv269084 16 25822580 25822698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494357,essv2496374,essv2500920 M 157 3 0 Samples from several populations that are part of the HapMap project. HS3ST4 NA18502,NA18510,NA18856 dgv164n21 16 25857681 25928335 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524942,nsv523821 M 2026 0 2 HS3ST4 nsv519437 16 25861972 25862104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696853 S 2026 0 1 HS3ST4 esv271094 16 26009070 26009422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499977,essv2504540,essv2507848,essv2506364,essv2494486,essv2497866,essv2502410,essv2512386 M 157 8 0 Samples from several populations that are part of the HapMap project. HS3ST4 NA18558,NA18563,NA18564,NA18566,NA18572,NA18945,NA18948,NA18949 nsv507811 16 26010096 26016096 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619164,nssv623208 M 4 2 0 HS3ST4 NA10860,NA18994 nsv1771 16 26065714 26116844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4206,nssv5599,nssv7241,nssv1302 M 9 4 0 "" NA12156,NA12878,NA19129,NA19240 nsv522735 16 26105031 26114496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698369 S 2026 0 1 "" nsv519054 16 26229587 26231369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696525 S 2026 0 1 "" esv2310493 16 26284160 26284568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945967 S 1 0 1 "" NA18507 esv259472 16 26292800 26293849 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394140,essv2393667,essv2394038,essv2394266 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv2472999 16 26293416 26294490 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348080 S 1 1 0 "" NA18507 nsv833178 16 26366610 26527848 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452463 S 95 1 0 "" esv2466001 16 26515293 26516874 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297729 S 1 0 1 "" NA18507 esv2264992 16 26515334 26516011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987393 S 1 0 1 "" NA18507 esv6459 16 26515512 26515843 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28900 S 1 0 1 "" SJK esv2587262 16 26515525 26515866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205245 S 1 0 1 "" NA18507 esv1018362 16 26515538 26515880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697809 S 2 0 1 "" HuRef nsv527768 16 26564454 26567931 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704257 S 2026 0 1 "" nsv521931 16 26570108 26575167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694700 S 2026 0 1 "" nsv1772 16 26630445 26663071 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10086 S 9 1 0 "" NA18956 esv2590258 16 26730005 26731873 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260012 S 1 0 1 "" NA18507 esv991952 16 26730391 26730884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575404 S 3 0 1 "" HuRef esv1439580 16 26730418 26730912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133230 S 2 0 1 "" HuRef nsv821595 16 26730465 26731272 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421171 S 1 0 1 "" NA10851 esv21950 16 26730465 26737176 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14292,esv17488,esv19393 M 451 0 17 "" NA07037,NA11995,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA18502,NA18505,NA18508,NA18909,NA18916,NA19108,NA19147,NA19190,NA19240 nsv827605 16 26731629 26733168 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430953 S 31 0 1 "" AK16 esv2537407 16 26732325 26732433 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377890 S 1 0 1 "" NA18507 esv23519 16 26787005 26790175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13243 S 451 0 1 "" NA18858 nsv520822 16 26802777 26808047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697633 S 2026 0 1 "" nsv524647 16 26806143 26808047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700613 S 2026 0 1 "" nsv510416 16 26818452 26824452 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622260,nssv621436 M 4 0 2 "" NA10860,NA15510 nsv103407 16 26824422 26826998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121985 M 24 "" esv24453 16 26824444 26827013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10656 S 451 0 6 "" NA18517,NA18909,NA19114,NA19129,NA19147,NA19257 esv999629 16 26870757 26870888 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577672 S 3 0 1 "" HuRef esv1998670 16 26947219 26947680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721582 S 1 0 1 "" NA18507 dgv2663n71 16 26948918 26997812 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905682,nsv905684,nsv905683 M 6533 5 0 C16orf82 IS36183,IS36244,IS38333,IS41874,SP50562 esv3353 16 26957566 26957792 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25794 S 1 0 1 Single Asian sample YH "" YH esv25992 16 26982796 26983421 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13597 S 451 1 0 "" NA18508 nsv103835 16 27057376 27057376 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122413 M 24 "" esv1787214 16 27057581 27057682 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651319 S 2 0 1 "" HuRef esv1437892 16 27057694 27057863 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593605 S 2 0 1 "" HuRef nsv513448 16 27057733 27058254 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625851 S 1 1 0 "" 1 nsv524872 16 27205294 27205537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700877 S 2026 0 1 FLJ21408 esv1656000 16 27213496 27213496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038525 S 2 1 0 "" HuRef esv24900 16 27243851 27258578 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19458 S 451 0 1 IL4R NA12004 nsv516053 16 27248560 27292232 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678966,nssv672657,nssv670202,nssv690601,nssv673748,nssv657660,nssv663817,nssv670645,nssv685438,nssv692670,nssv665924,nssv658712,nssv683708,nssv683643,nssv685116,nssv688331,nssv666251,nssv680201,nssv660649,nssv661272,nssv665894,nssv705647,nssv683337,nssv690816,nssv689335,nssv670713,nssv655179,nssv676850,nssv656053,nssv661779,nssv703842,nssv678985 M 2026 1 31 IL4R nsv833179 16 27260185 27415007 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452464 S 95 0 1 GTF3C1,IL21R,IL4R,LOC283888 nsv905685 16 27265704 27275473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519445 S 6533 0 1 IL4R SP81036 nsv905686 16 27270731 27277110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516600 S 6533 0 1 IL4R SP56874 nsv905687 16 27273627 27296912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530833 S 6533 0 1 IL4R MS10311 nsv1773 16 27331719 27349351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5600 S 9 1 0 IL21R NA19129 esv2751555 16 27436681 27627807 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987424,essv6983808,essv6983809,essv6983810 M 771 1 0 GTF3C1,KIAA0556 BEC_629 nsv1774 16 27491679 27499577 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10087 S 9 1 0 KIAA0556 NA18956 esv1205043 16 27632574 27632574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328744 S 2 1 0 KIAA0556 HuRef esv1009779 16 27636185 27636839 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565705 S 3 1 0 KIAA0556 HuRef nsv103176 16 27760868 27760868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121754 M 24 GSG1L nsv103057 16 27760868 27760937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121635 M 24 GSG1L nsv103097 16 27760923 27761027 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121675 M 24 GSG1L esv1056305 16 27760955 27760955 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305932 S 2 1 0 GSG1L HuRef nsv103125 16 27760958 27761027 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121703 M 24 GSG1L esv2422531 16 27787135 27789723 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329583 S 1 0 1 GSG1L NA18507 esv2511649 16 27787265 27790519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319881 S 1 0 1 GSG1L NA18507 esv2411228 16 27787760 27790089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780158 S 1 0 1 GSG1L NA18507 esv28504 16 27787895 27789945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9945 S 451 0 5 GSG1L NA18907,NA18916,NA19099,NA19108,NA19257 esv1190124 16 27807303 27807392 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805771 S 2 0 1 GSG1L HuRef esv274509 16 27817807 27822025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581511 S 7 1 0 Samples from several populations that are part of the HapMap project. GSG1L NA12878 esv1010296 16 27857643 27862235 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565674 S 3 1 0 GSG1L HuRef esv7177 16 27860513 27861078 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29618 S 1 0 0 GSG1L SJK esv27817 16 27981331 27982917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14574 S 451 0 1 GSG1L NA19129 nsv469663 16 28012682 28171002 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649592 M 265 0 3 Samples from several populations that are part of the HapMap project. XPO6 nsv9408 16 28017595 28019205 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26284 S 31 1 0 Samples from several populations that are part of the HapMap project. XPO6 NA19132 nsv9409 16 28043576 28045124 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26750 S 31 1 0 Samples from several populations that are part of the HapMap project. XPO6 NA18860 dgv842e1 16 28082639 29058054 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16472,essv16664,esv203,essv13896 M 271 0 0 APOBR,ATP2A1,ATXN2L,CCDC101,CD19,CLN3,EIF3C,EIF3CL,IL27,LAT,MIR4517,MIR4721,NFATC2IP,NUPR1,RABEP2,RRN3P2,SBK1,SH2B1,SPNS1,SULT1A1,SULT1A2,TUFM,XPO6 NA18854,NA19139,NA19142 nsv507812 16 28087081 28093081 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619165,nssv623209 M 4 2 0 XPO6 NA10860,NA18994 nsv103104 16 28108442 28116224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121682 M 24 XPO6 nsv525423 16 28109841 28174109 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701547 S 2026 1 0 XPO6 nsv9410 16 28118122 28129108 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23787,nssv21996 M 31 2 0 Samples from several populations that are part of the HapMap project. XPO6 NA10863,NA19173 dgv843e1 16 28140185 28751472 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17496,essv651,essv9620 M 271 0 0 APOBR,ATXN2L,CCDC101,CLN3,EIF3C,EIF3CL,IL27,NUPR1,SBK1,SULT1A1,SULT1A2 NA12762,NA18975,NA19141 nsv526174 16 28173657 28230971 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702435 S 2026 1 0 SBK1 nsv9411 16 28187027 28196598 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27855 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv9412 16 28196598 28206342 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22026 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 nsv516054 16 28212498 28240912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666644,nssv677573,nssv659114,nssv691224,nssv666821,nssv691804,nssv682700,nssv689307,nssv659070,nssv688005,nssv691157,nssv672658,nssv689019,nssv665895,nssv681463,nssv674455,nssv684274,nssv692935,nssv670779 M 2026 0 19 SBK1 nsv511572 16 28245764 28392057 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626198 S 1 0 1 EIF3C,EIF3CL 1 nsv833180 16 28264979 28492987 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452467,nssv1452466,nssv1452465 M 95 0 3 APOBR,CCDC101,CLN3,EIF3C,EIF3CL,IL27,NUPR1 nsv9414 16 28281962 28368612 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27869,nssv27862,nssv20260,nssv22134,nssv24139,nssv24174,nssv21902,nssv23875,nssv22044,nssv26135,nssv22917,nssv22056,nssv23902,nssv22074,nssv26761,nssv22473,nssv22928,nssv23278,nssv23267,nssv23814,nssv22784,nssv25057,nssv23295,nssv25271 M 31 7 13 Samples from several populations that are part of the HapMap project. EIF3C,EIF3CL NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12802,NA18504,NA18517,NA18537,NA18552,NA18563,NA18860,NA18975,NA19007,NA19144,NA19173,NA19221,NA19240 esv23667 16 28283100 28336898 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13985,esv16320,esv16071 M 451 1 13 EIF3C,EIF3CL NA06985,NA11894,NA11993,NA12006,NA12156,NA12239,NA12414,NA18508,NA18517,NA18523,NA18909,NA19108,NA19225,NA19240 nsv905688 16 28298745 28440572 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592707 S 6533 1 0 APOBR,CLN3,EIF3C,EIF3CL,IL27 IS39243 nsv821114 16 28322105 28336898 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421172 S 1 0 1 EIF3C,EIF3CL NA10851 nsv509608 16 28368619 28551717 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623692,nssv623693 M 4 1 0 APOBR,CCDC101,CLN3,IL27,NUPR1,SULT1A1,SULT1A2 NA18994 nsv9415 16 28387703 28417781 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27876 S 31 1 0 Samples from several populations that are part of the HapMap project. APOBR,CLN3 NA19221 nsv103376 16 28397145 28397439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121954 M 24 CLN3 nsv905689 16 28425210 28523209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595191 S 6533 0 1 CCDC101,IL27,NUPR1,SULT1A2 IS40156 nsv833182 16 28456877 28590949 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452470,nssv1452482,nssv1452480,nssv1452481,nssv1452484,nssv1452483,nssv1452485,nssv1452468,nssv1452469,nssv1452486,nssv1452490,nssv1452478,nssv1452479,nssv1452488,nssv1452487,nssv1452476,nssv1452477,nssv1452475,nssv1452472,nssv1452489,nssv1452471,nssv1452474,nssv1452473 M 95 23 0 CCDC101,NUPR1,SULT1A1,SULT1A2 nsv905690 16 28470527 28549743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594361,nssv1586603 M 6533 2 0 CCDC101,SULT1A1,SULT1A2 IS37874,IS39788 dgv2664n71 16 28492438 28549743 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905692,nsv905693,nsv905691 M 6533 4 0 CCDC101,SULT1A1,SULT1A2 IS33262,IS35195,IS36475,IS38103 nsv905694 16 28502050 28555192 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543686 S 6533 0 1 CCDC101,SULT1A1,SULT1A2 MS16153 nsv9416 16 28507328 28535572 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22785,nssv23306,nssv26463,nssv22814,nssv21142,nssv22503,nssv26772,nssv27883,nssv21112,nssv20315,nssv23460,nssv25296,nssv22946 M 31 4 7 Samples from several populations that are part of the HapMap project. CCDC101,SULT1A1,SULT1A2 NA07048,NA10839,NA10847,NA12740,NA18502,NA18504,NA18564,NA18860,NA18942,NA19007,NA19221 dgv12n14 16 28511144 28526810 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433300,nsv433298 M 9 0 2 SULT1A1,SULT1A2 NA12878,NA19240 nsv1775 16 28514267 28538392 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6665,nssv9528,nssv9314 M 9 3 0 SULT1A1,SULT1A2 NA12156,NA18507,NA18517 nsv436734 16 28514922 28520807 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465546 S 2 1 0 Samples from several populations that are part of the HapMap project. SULT1A2 NA18505 nsv827606 16 28515895 28530148 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432460 S 31 0 1 SULT1A1 AK20 nsv820569 16 28515895 28534400 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421173 S 1 1 0 SULT1A1 NA10851 nsv433301 16 28515988 28528253 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463182 S 9 0 1 Samples from several populations that are part of the HapMap project. SULT1A1 NA19129 nsv905695 16 28515988 28535644 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514176,nssv1519164,nssv1505903,nssv1501815,nssv1512848,nssv1515320,nssv1505119,nssv1505158,nssv1516508,nssv1514040,nssv1509440,nssv1499405,nssv1504792,nssv1517554,nssv1518763,nssv1519396,nssv1519116,nssv1506315,nssv1502064,nssv1516846,nssv1516856,nssv1500039,nssv1512975,nssv1509161,nssv1505300,nssv1518237,nssv1515224,nssv1512367,nssv1502497,nssv1515644,nssv1515862,nssv1508845,nssv1507767,nssv1508089,nssv1499392,nssv1508933,nssv1506748,nssv1504397,nssv1516475,nssv1507448,nssv1505682,nssv1502164,nssv1502275,nssv1501725,nssv1517315,nssv1502587,nssv1507848,nssv1519408,nssv1504649,nssv1502815,nssv1502668,nssv1500167,nssv1518054,nssv1506504,nssv1514079,nssv1512708,nssv1507783,nssv1501525,nssv1514471,nssv1499317,nssv1504230,nssv1511708,nssv1518694,nssv1501624,nssv1506275,nssv1515421,nssv1504495,nssv1502039,nssv1515587,nssv1518571,nssv1517117,nssv1503247,nssv1516441,nssv1506531,nssv1516640,nssv1519531,nssv1505513,nssv1502151,nssv1501925,nssv1511718,nssv1515794,nssv1519253,nssv1503851 M 6533 69 14 SULT1A1 SP50118,SP50159,SP50176,SP50179,SP50631,SP50796,SP50880,SP50900,SP50936,SP50985,SP50998,SP51042,SP51049,SP51056,SP51109,SP51216,SP51281,SP51309,SP51419,SP52017,SP52117,SP52308,SP52455,SP52531,SP52688,SP52729,SP53060,SP53276,SP53349,SP53583,SP53827,SP54042,SP54127,SP54189,SP54362,SP54367,SP54401,SP54603,SP54645,SP54672,SP54673,SP54680,SP54704,SP54734,SP54753,SP54790,SP55034,SP55039,SP55462,SP55596,SP55642,SP55660,SP55886,SP55915,SP55966,SP56004,SP56138,SP56154,SP56185,SP56223,SP56231,SP56271,SP56294,SP56833,SP56842,SP56848,SP56880,SP56959,SP56960,SP57190,SP57250,SP57314,SP57449,SP57472,SP57741,SP57921,SP57983,SP80955,SP80970,SP80988,SP81014,SP81015,SP81074 nsv905696 16 28515988 28549743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510128 S 6533 0 1 SULT1A1 SP54956 nsv827607 16 28516254 28534480 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427884,nssv1424588,nssv1425358,nssv1426171,nssv1434735,nssv1432461,nssv1438472,nssv1430545,nssv1433276,nssv1436202 M 31 1 9 SULT1A1 AK2,AK20,AK4,AK8,NA18566,NA18570,NA18582,NA18947,NA18951,NA18972 nsv819128 16 28516708 28538982 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418687 S 2 0 1 SULT1A1 AK1 esv24682 16 28516899 28534415 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19040,esv20745 M 451 2 11 SULT1A1 NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12749,NA15510,NA18909,NA19114 nsv435671 16 28520221 28530344 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465547 S 2 0 1 SULT1A1 NA15510 nsv433302 16 28521466 28528253 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463183 S 9 0 1 Samples from several populations that are part of the HapMap project. SULT1A1 NA18555 nsv827608 16 28522145 28530148 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440689,nssv1435455,nssv1422988,nssv1422595,nssv1436252 M 31 1 4 SULT1A1 NA18547,NA18552,NA18564,NA18592,NA18942 nsv905697 16 28522302 28628321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513767 S 6533 1 0 EIF3C,SULT1A1 SP55842 esv33847 16 28523171 28529968 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98703,essv93155,essv97261,essv93405 M 51 4 0 SULT1A1 21606,21863,22075,22170 esv993722 16 28524872 28525644 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587120 S 3 1 0 SULT1A1 HuRef esv998803 16 28525046 28525577 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586478 S 3 1 0 SULT1A1 HuRef nsv905698 16 28539086 28779467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592708 S 6533 1 0 ATXN2L,EIF3C,EIF3CL,MIR4721,SULT1A1,TUFM IS39243 dgv13n14 16 28549743 28708848 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433442,nsv433441 M 9 2 0 EIF3C,EIF3CL NA18555,NA19240 nsv1776 16 28569859 28715781 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2139 S 9 0 1 EIF3C,EIF3CL NA18555 nsv9417 16 28586215 28603652 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22164 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18975 esv25666 16 28587048 28670623 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15845,esv13430,esv17339 M 451 1 17 EIF3C,EIF3CL NA06985,NA11894,NA11993,NA12006,NA12414,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240 dgv844e1 16 28590949 28751472 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19996,essv7073,essv24809 M 271 0 0 ATXN2L,EIF3C,EIF3CL NA07048,NA10860,NA18537 nsv510683 16 28600304 28670993 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622706 S 4 0 1 EIF3C,EIF3CL NA18994 nsv9418 16 28602258 28604354 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23929 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA11830 nsv905699 16 28602270 28674580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557297,nssv1558581,nssv1523848 M 6533 0 3 EIF3C,EIF3CL MS22600,MS23401,SP54226 nsv9419 16 28604445 28670974 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25082,nssv23956,nssv22116,nssv26783,nssv24165,nssv26154,nssv27895,nssv23334,nssv22224,nssv20861,nssv22533,nssv22813,nssv21172,nssv20290,nssv23841,nssv23004,nssv25321,nssv21932,nssv24200,nssv23323,nssv23351,nssv22957,nssv27889,nssv22194,nssv22975 M 31 9 13 Samples from several populations that are part of the HapMap project. EIF3C,EIF3CL NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18860,NA18942,NA18975,NA19007,NA19144,NA19173,NA19221,NA19240 nsv820432 16 28615691 28628417 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421174 S 1 0 1 EIF3C NA10851 esv999954 16 28619032 28670408 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586407 S 3 0 1 EIF3C,EIF3CL HuRef nsv905700 16 28640368 28882269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598945 S 6533 0 1 ATP2A1,ATXN2L,CD19,EIF3C,EIF3CL,MIR4517,MIR4721,NFATC2IP,RABEP2,SH2B1,TUFM IS41317 nsv9420 16 28698207 28732323 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22254,nssv24013 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA11830,NA18975 nsv905701 16 28721599 28862361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592333 S 6533 0 1 ATP2A1,ATXN2L,CD19,MIR4721,RABEP2,SH2B1,TUFM IS39233 nsv905702 16 28721599 28957155 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595192,nssv1523106 M 6533 1 1 ATP2A1,ATXN2L,CD19,LAT,MIR4517,MIR4721,NFATC2IP,RABEP2,SH2B1,SPNS1,TUFM IS40156,SP53643 nsv9421 16 28732323 28739358 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20345 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv905703 16 28733550 28749934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510129 S 6533 0 1 ATXN2L SP54956 esv26988 16 28741473 28743491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17483 S 451 0 2 ATXN2L NA12239,NA19129 nsv518648 16 28745016 28950951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696097 S 2026 0 1 ATP2A1,ATXN2L,CD19,LAT,MIR4517,MIR4721,NFATC2IP,RABEP2,SH2B1,SPNS1,TUFM nsv519100 16 28745016 28950951 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694306 S 2026 1 0 ATP2A1,ATXN2L,CD19,LAT,MIR4517,MIR4721,NFATC2IP,RABEP2,SH2B1,SPNS1,TUFM esv989259 16 28782551 28783006 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587124 S 3 1 0 SH2B1 HuRef nsv513449 16 28833536 28834116 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625852 S 1 1 0 RABEP2 1 esv2443571 16 28833721 28834255 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308751 S 1 1 0 RABEP2 NA18507 nsv457480 16 28876981 28950951 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534663 S 1557 1 0 LAT,MIR4517,NFATC2IP,SPNS1 1780862078_A esv33811 16 28882516 28892650 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98758,essv97119 M 51 0 2 NFATC2IP 21606,22075 esv2750677 16 28905709 28907873 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97264 S 51 0 1 LAT 22075 esv6316 16 28912786 28913284 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28757 S 1 0 1 "" SJK esv33515 16 28944132 28944272 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95480 S 51 1 0 "" 21847 nsv9422 16 28978132 28992229 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22284 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18975 esv1246246 16 28995629 28995694 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029178 S 2 0 1 RRN3P2 HuRef dgv2665n71 16 29004371 29087908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905704,nsv905705,nsv905708 M 6533 0 3 RRN3P2 IS32841,IS33601,SP54956 dgv2666n71 16 29009349 29112897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905709,nsv905706 M 6533 0 2 RRN3P2 IS39233,MS17208 nsv905707 16 29009349 29249055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530834 S 6533 0 1 RRN3P2,RUNDC2C MS10311 nsv103421 16 29010895 29012713 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121999 M 24 RRN3P2 esv1259219 16 29026763 29026763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000648 S 2 1 0 RRN3P2 HuRef nsv905710 16 29031651 29188567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549890 S 6533 0 1 RRN3P2 MS18276 nsv525812 16 29038500 29056066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701996 S 2026 0 1 "" esv25772 16 29039141 29041358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13752 S 451 0 2 "" NA18508,NA19108 nsv471729 16 29039165 29041643 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646010 M 0.108 95 "" esv2750682 16 29039836 29044941 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98209 S 51 0 1 "" 21772 nsv442719 16 29040382 29041501 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514801 16 29041108 29041428 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628255 S 1414 0 1 "" esv999419 16 29060755 29060812 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567412 S 3 0 1 "" HuRef esv1024616 16 29060776 29060834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914445 S 2 0 1 "" HuRef esv33670 16 29089668 29094062 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96158 S 51 1 0 "" 22007 esv23008 16 29115438 29117468 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16069 S 451 1 0 "" NA12044 nsv1778 16 29132634 29165974 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1303 S 9 1 0 "" NA19240 nsv103674 16 29156061 29156110 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122252 M 24 "" esv1565016 16 29156098 29156098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007564 S 2 1 0 "" HuRef nsv436736 16 29167770 29178004 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465549 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv845e1 16 29181449 29609853 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1900,esv431,essv12258,essv2673,essv18716,essv15046,essv12296,essv24667,essv16660,essv19504,essv14697,essv19005,essv16299,essv16023 M 271 0 0 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,QPRT,RUNDC2C,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SPN,SULT1A3,SULT1A4 NA11829,NA12005,NA12864,NA12874,NA18501,NA18967,NA18976,NA19101,NA19129,NA19138,NA19142,NA19159,NA19161 nsv1779 16 29211639 29256380 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7242 S 9 0 1 RUNDC2C NA12156 esv2410956 16 29217340 29217777 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732310 S 1 0 1 "" NA18507 nsv905711 16 29234430 29554843 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592709 S 6533 1 0 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,RUNDC2C,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 IS39243 esv29892 16 29290525 29560625 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20673,esv21385,esv11251,esv9907 M 451 11 0 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,SLC7A5P1,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 NA12239,NA12287,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18916,NA19190,NA19257 nsv9423 16 29299742 29302977 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26045,nssv23362,nssv23868,nssv24191,nssv22842,nssv22986 M 31 6 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18972,NA19007,NA19144,NA19173 nsv9425 16 29354394 29356641 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23014 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv498862 16 29357727 29464031 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585723 S 9 0 1 BOLA2,BOLA2B,LOC388242,LOC440354,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 nsv820959 16 29366431 29395111 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421175 S 1 1 0 BOLA2,BOLA2B,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 NA10851 nsv9426 16 29368118 29396548 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27901,nssv23420,nssv26794,nssv26477 M 31 4 0 Samples from several populations that are part of the HapMap project. BOLA2,BOLA2B,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 NA18502,NA18860,NA19007,NA19221 nsv905712 16 29386030 29502984 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590485 S 6533 1 0 LOC388242,LOC440354,LOC613038 IS38515 nsv9427 16 29401985 29404436 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23042,nssv23895,nssv22871,nssv26064,nssv24217 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18972,NA19144,NA19173 nsv905713 16 29423037 29466569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513047 S 6533 0 1 LOC440354 SP55671 nsv9428 16 29475322 29496107 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22843 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC440354 NA18564 esv32773 16 29500313 29559994 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97595,essv101152,essv93874,essv94714,essv94128,essv101733,essv98969,essv93196,essv100338 M 51 0 9 SLC7A5P1 21616,21618,21634,21791,21802,21909,21938,22170,22300 nsv9429 16 29506772 29522337 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22872 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv9430 16 29529861 29535031 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26083 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC7A5P1 NA18972 nsv833183 16 29533360 29618322 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452492,nssv1452491 M 95 0 2 QPRT,SPN dgv34n68 16 29536903 29726856 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833185,nsv833184 M 95 0 44 C16orf54,MAZ,QPRT,SPN,ZG16 esv23737 16 29591108 29600139 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14298 S 451 1 0 QPRT NA11894 nsv833186 16 29638374 29782496 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452537 S 95 0 1 C16orf53,C16orf54,CDIPT,MAZ,MVP,PRRT2,ZG16 dgv2667n71 16 29717328 29736031 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905716,nsv905715 M 6533 0 3 C16orf53,MAZ,PRRT2 SP51109,SP54725,SP54956 esv22680 16 29725140 29726112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17942 S 451 0 1 MAZ NA19129 nsv827610 16 29727008 29737047 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423307 S 31 1 0 C16orf53,MAZ,PRRT2 NA18969 nsv827611 16 29727008 29749244 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439311 S 31 1 0 C16orf53,MAZ,MVP,PRRT2 NA18973 nsv518568 16 29759239 29779862 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696011 S 2026 1 0 CDIPT,MVP esv33498 16 29765264 29766138 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101001 S 51 1 0 MVP 21693 nsv905717 16 29777363 29957701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510132 S 6533 0 1 ASPHD1,C16orf92,CDIPT,DOC2A,FAM57B,HIRIP3,INO80E,KCTD13,LOC440356,SEZ6L2,TAOK2,TMEM219 SP54956 nsv457482 16 29779862 29792948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534664 S 1557 0 1 CDIPT,LOC440356,SEZ6L2 1780862346_A nsv103231 16 29795299 29801918 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121809 M 24 SEZ6L2 dgv2668n71 16 29813383 30027026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905719,nsv905718 M 6533 0 2 ALDOA,ASPHD1,C16orf92,DOC2A,FAM57B,GDPD3,HIRIP3,INO80E,KCTD13,PPP4C,SEZ6L2,TAOK2,TBX6,TMEM219,YPEL3 IS37646,IS39233 esv33251 16 29819487 29820360 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100921,essv94071,essv97161,essv93366 M 51 4 0 ASPHD1 21693,21802,22075,22170 esv29470 16 29891564 29892354 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12209 S 451 0 1 TMEM219 NA12239 esv997840 16 29909991 29922739 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564790 S 3 0 1 HIRIP3,INO80E,TAOK2 HuRef nsv833187 16 29970761 30091982 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452541,nssv1452540,nssv1452538,nssv1452539,nssv1452542 M 95 0 5 ALDOA,GDPD3,LOC100271831,MAPK3,PPP4C,TBX6,YPEL3 nsv905720 16 29974393 30116115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510133 S 6533 0 1 ALDOA,BOLA2,BOLA2B,CORO1A,GDPD3,LOC100271831,LOC606724,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,TBX6,YPEL3 SP54956 dgv846e1 16 29981456 30290781 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12261,essv20228,essv12321,essv16682,esv1,essv14731,essv19495,essv18938,essv16225,essv16072 M 271 0 0 ALDOA,BOLA2,BOLA2B,CD2BP2,CORO1A,GDPD3,LOC100271831,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,MAPK3,PPP4C,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B,TBX6,YPEL3 NA12005,NA12144,NA12864,NA18501,NA19101,NA19138,NA19142,NA19159,NA19161 nsv1781 16 30033213 30067116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5601 S 9 1 0 LOC100271831,MAPK3 NA19129 esv993894 16 30041241 30043690 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563829 S 3 1 0 MAPK3 HuRef nsv513450 16 30042744 30042905 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625842 S 1 1 0 "" 1 nsv905721 16 30048759 30105652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514711 S 6533 0 1 CORO1A SP56047 dgv847e1 16 30063032 30290781 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21547,essv18179,essv19962,essv23947 M 271 0 0 BOLA2,BOLA2B,CD2BP2,CORO1A,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4,TBC1D10B NA12057,NA12813,NA12814,NA12873 nsv905722 16 30076008 30107072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511516 S 6533 0 1 CORO1A SP55021 nsv905723 16 30095177 30112803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510927 S 6533 0 1 BOLA2,BOLA2B,CORO1A,LOC606724,SLX1A,SLX1B SP54988 nsv9431 16 30098038 30137347 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20891,nssv25346,nssv22314,nssv23032,nssv26491,nssv26805,nssv22563,nssv26203,nssv23488,nssv26102 M 31 8 2 Samples from several populations that are part of the HapMap project. BOLA2,BOLA2B,CORO1A,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 NA07048,NA10839,NA12740,NA12872,NA18502,NA18504,NA18517,NA18860,NA18972,NA18975 esv32539 16 30101685 30102224 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101058,essv95184,essv95880,essv94581,essv95047,essv97708,essv100599 M 51 2 5 "" 21693,21721,21911,21932,22231,22278,22298 esv22245 16 30105332 30254307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21428,esv12853,esv18616 M 451 11 0 BOLA2,BOLA2B,CORO1A,LOC388242,LOC440354,LOC595101,LOC606724,LOC613037,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 NA12239,NA12287,NA12776,NA15510,NA18502,NA18505,NA18517,NA18861,NA18916,NA19190,NA19225 nsv821543 16 30107337 30134428 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421176 S 1 1 0 BOLA2,BOLA2B,CORO1A,LOC388242,LOC606724,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 NA10851 nsv471387 16 30111758 30113128 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548136,nssv548132,nssv548135 M 3 BOLA2,BOLA2B,SLX1A,SLX1B nsv471388 16 30112718 30116381 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548138,nssv548137,nssv548139 M 3 BOLA2,BOLA2B,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4 nsv471389 16 30113970 30123150 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548142,nssv548140,nssv548141 M 3 LOC388242,LOC613038,SLX1A,SLX1A-SULT1A3,SLX1B,SLX1B-SULT1A4,SULT1A3,SULT1A4 nsv509609 16 30135195 30135195 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618115 S 4 1 0 "" CHM nsv9432 16 30141325 30144406 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23922,nssv24243,nssv23448,nssv22900,nssv26121,nssv23100 M 31 6 0 Samples from several populations that are part of the HapMap project. LOC613037 NA18552,NA18563,NA18972,NA19007,NA19144,NA19173 nsv509610 16 30164697 30164697 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623694 S 4 1 0 "" NA18994 nsv509611 16 30170677 30170677 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621024 S 4 1 0 "" NA15510 nsv9433 16 30215008 30235850 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22901 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC440354,LOC595101 NA18564 nsv9434 16 30239046 30240573 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21962 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC595101 NA07029 nsv9437 16 30246841 30253860 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22930 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC595101 NA18564 nsv905724 16 30276092 30346431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510134 S 6533 0 1 DCTPP1,MYLPF,SEPT1,TBC1D10B,ZNF48,ZNF771 SP54956 nsv827612 16 30279039 30337363 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423418 S 31 1 0 MYLPF,SEPT1,TBC1D10B,ZNF48,ZNF771 NA18969 nsv905725 16 30284460 30328352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510928 S 6533 0 1 MYLPF,SEPT1,TBC1D10B,ZNF48,ZNF771 SP54988 esv26390 16 30288495 30289334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16720 S 451 0 1 TBC1D10B NA19129 esv23207 16 30289504 30290234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15257 S 451 0 1 "" NA12239 nsv1782 16 30299313 30317767 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2140 S 9 0 1 SEPT1,ZNF48 NA18555 nsv1783 16 30356951 30401822 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7243 S 9 0 1 ITGAL,SEPHS2 NA12156 nsv513451 16 30369982 30371096 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625853 S 1 1 0 "" 1 nsv905726 16 30435773 30453989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510135 S 6533 0 1 ITGAL,ZNF747,ZNF768 SP54956 nsv1784 16 30437457 30471643 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4209 S 9 1 0 ITGAL,ZNF747,ZNF768 NA12878 nsv905727 16 30472027 30597197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510136 S 6533 0 1 FBRS,PRR14,ZNF688,ZNF689,ZNF764,ZNF785 SP54956 nsv469724 16 30539946 30747764 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649745 M 265 0 2 Samples from several populations that are part of the HapMap project. C16orf93,FBRS,PHKG2,PRR14,RNF40,SNORA30,SRCAP,ZNF629 nsv833188 16 30539947 30747764 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452543 S 95 0 1 C16orf93,FBRS,PHKG2,PRR14,RNF40,SNORA30,SRCAP,ZNF629 nsv905728 16 30550368 30836471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549891 S 6533 0 1 BCL7C,C16orf93,CTF1,FBRS,MIR4519,MIR762,PHKG2,PRR14,RNF40,SNORA30,SRCAP,ZNF629 MS18276 nsv905729 16 30550368 31155425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530835 S 6533 0 1 BCKDK,BCL7C,C16orf93,CTF1,FBRS,FBXL19,FBXL19-AS1,FUS,HSD3B7,KAT8,MIR4519,MIR762,ORAI3,PHKG2,PRR14,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,RNF40,SETD1A,SNORA30,SRCAP,STX1B,STX4,TRIM72,VKORC1,ZNF629,ZNF646,ZNF668 MS10311 dgv2669n71 16 30574532 30592590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905730,nsv905731 M 6533 0 2 FBRS,PRR14 SP54988,SP55021 nsv1785 16 30593444 30625716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2143 S 9 1 0 SRCAP NA18555 esv33681 16 30618709 30621909 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98277 S 51 0 1 SRCAP 21772 esv2438502 16 30670421 30671344 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227696 S 1 1 0 PHKG2 NA18507 nsv9438 16 30677704 30706943 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27907 S 31 1 0 Samples from several populations that are part of the HapMap project. C16orf93,PHKG2,RNF40,ZNF629 NA19221 nsv905732 16 30695683 30744711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510137 S 6533 0 1 ZNF629 SP54956 nsv905733 16 30704420 30912313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552687 S 6533 0 1 BCL7C,CTF1,FBXL19,FBXL19-AS1,HSD3B7,MIR4519,MIR762,ORAI3,SETD1A,STX1B,ZNF629 MS19584 nsv833189 16 30727209 30868296 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452544 S 95 0 1 BCL7C,CTF1,FBXL19,FBXL19-AS1,MIR4519,MIR762,ORAI3 nsv103692 16 30727991 30731618 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122270 M 24 "" dgv35n68 16 30752552 30955552 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833190,nsv833191 M 95 0 6 BCL7C,CTF1,FBXL19,FBXL19-AS1,HSD3B7,MIR4519,MIR762,ORAI3,SETD1A,STX1B,STX4 nsv507813 16 30765635 30771635 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619166,nssv620603,nssv623210 M 4 3 0 "" NA10860,NA15510,NA18994 esv28742 16 30778439 30784071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12876 S 451 0 1 "" NA19129 dgv2670n71 16 30785045 31155425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905735,nsv905734 M 6533 0 2 BCKDK,BCL7C,CTF1,FBXL19,FBXL19-AS1,FUS,HSD3B7,KAT8,MIR4519,MIR762,ORAI3,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,SETD1A,STX1B,STX4,TRIM72,VKORC1,ZNF646,ZNF668 IS37646,SP54956 dgv2671n71 16 30807736 30921680 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905737,nsv905736 M 6533 0 2 BCL7C,CTF1,FBXL19,FBXL19-AS1,HSD3B7,MIR762,ORAI3,SETD1A,STX1B SP54988,SP55021 nsv457483 16 30811180 31098983 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534665 S 1557 0 1 BCKDK,BCL7C,CTF1,FBXL19,FBXL19-AS1,FUS,HSD3B7,KAT8,MIR762,ORAI3,PRSS36,PRSS53,PRSS8,SETD1A,STX1B,STX4,VKORC1,ZNF646,ZNF668 NINDS_207 nsv905738 16 30813775 30881427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501626 S 6533 0 1 CTF1,FBXL19,FBXL19-AS1,ORAI3,SETD1A SP51109 nsv482192 16 30867906 30873759 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558553 S 1 1 0 ORAI3 KB1 nsv833193 16 30868297 31041105 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452551,nssv1452552 M 95 1 1 BCKDK,HSD3B7,KAT8,ORAI3,PRSS53,SETD1A,STX1B,STX4,VKORC1,ZNF646,ZNF668 nsv827613 16 30874881 30875412 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423529 S 31 1 0 "" NA18969 esv33379 16 30892538 30894915 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98952 S 51 0 1 SETD1A 21938 nsv905739 16 30899449 30911670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509368 S 6533 0 1 HSD3B7,SETD1A,STX1B SP54782 esv270787 16 30915502 30916195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516436 S 157 1 0 Samples from several populations that are part of the HapMap project. STX1B NA12814 nsv827614 16 30965823 30979560 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423641 S 31 1 0 "" NA18969 dgv2672n71 16 30973750 31155425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905742,nsv905741,nsv905740 M 6533 0 6 BCKDK,FUS,KAT8,PRSS36,PRSS53,PRSS8,PYCARD,PYDC1,TRIM72,VKORC1,ZNF646,ZNF668 IS30369,IS32322,IS32841,IS33504,IS39233,MS10769 nsv827615 16 30994044 30994668 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437066 S 31 1 0 ZNF646 NA18542 esv993244 16 30999482 31009066 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565764 S 3 0 1 PRSS53,ZNF646 HuRef esv999616 16 31013376 31014004 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587281 S 3 1 0 VKORC1 HuRef nsv905743 16 31018565 31037443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510931 S 6533 0 1 BCKDK,KAT8 SP54988 esv2273286 16 31056224 31056864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979232 S 1 0 1 "" NA18507 esv987713 16 31070608 31081499 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565302 S 3 0 1 "" HuRef nsv905744 16 31124018 31141789 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508380 S 6533 0 1 PYDC1,TRIM72 SP54725 nsv905745 16 31124018 31155425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511519,nssv1510932 M 6533 0 2 PYDC1,TRIM72 SP54988,SP55021 nsv905746 16 31131050 31145421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508225 S 6533 0 1 PYDC1,TRIM72 SP54593 esv2436135 16 31234164 31235607 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213259 S 1 0 1 ITGAM NA18507 esv2052288 16 31234717 31235209 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867310 S 1 0 1 ITGAM NA18507 esv1039007 16 31234866 31235058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233199 S 2 0 1 ITGAM HuRef nsv833194 16 31265680 31436046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452553,nssv1452554 M 95 0 2 ARMC5,C16orf58,COX6A2,ITGAD,ITGAX,SLC5A2,TGFB1I1,ZNF843 nsv905747 16 31301680 31796185 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587317 S 6533 1 0 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,ITGAD,ITGAX,KIAA0664L3,SLC5A2,TGFB1I1,ZNF267,ZNF720,ZNF843 IS38008 esv25470 16 31307480 31322654 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14191 S 451 1 0 ITGAD NA19108 dgv2673n71 16 31335179 31495163 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905748,nsv905750,nsv905752,nsv905754,nsv905749,nsv905753 M 6533 0 9 AHSP,ARMC5,C16orf58,COX6A2,CSDAP1,ITGAD,SLC5A2,TGFB1I1,ZNF843 IS33669,IS36992,IS37443,IS37639,MS10311,MS14268,MS16153,MS19226,MS19685 nsv905751 16 31338861 31396534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510139 S 6533 0 1 ARMC5,COX6A2,ITGAD,TGFB1I1,ZNF843 SP54956 nsv482193 16 31401940 31409592 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558554 S 1 1 0 C16orf58,SLC5A2 KB1 dgv2674n71 16 31466721 31555255 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905756,nsv905757,nsv905758,nsv905755,nsv905759 M 6533 18 0 CSDAP1 IS31022,MS12640,MS16048,MS22440,MS23210,SP51494,SP52553,SP52713,SP52951,SP53407,SP53448,SP53509,SP54148,SP56234,SP56849,SP57640,SP81085,SP81495 esv275435 16 31468179 31475023 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585902 S 1250 0 1 "" nsv833195 16 31483613 31670723 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452555 S 95 0 1 CSDAP1,KIAA0664L3,ZNF720 nsv905760 16 31501271 31555255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506697 S 6533 1 0 "" SP54393 nsv1786 16 31543488 31576343 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6667 S 9 1 0 "" NA12156 nsv905761 16 31638026 31719943 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592710 S 6533 1 0 ZNF720 IS39243 dgv848e1 16 31658070 33744011 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3894,essv8784,essv672,essv12166,essv22839,essv2530,essv10418,essv15241,essv9225,essv15139,essv9924,essv14334,essv16054,essv9789,essv13425,essv17060,essv17647,essv13877,essv19870,essv735,essv8375,essv15307,essv15011,essv16741,essv1194,essv1480,essv17997,essv3838,essv1939 M 271 0 0 HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,ZNF267,ZNF720 NA11881,NA12004,NA12005,NA18501,NA18508,NA18854,NA18858,NA18862,NA18863,NA18870,NA18872,NA18951,NA18953,NA18959,NA18975,NA18980,NA18994,NA19003,NA19094,NA19101,NA19128,NA19129,NA19145,NA19172,NA19192,NA19194,NA19222 nsv1787 16 31724281 31755376 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4210 S 9 0 1 "" NA12878 dgv849e1 16 31736153 31973415 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21292,essv10777,essv13688,essv2593,essv10539,essv17013,essv17343,essv17540 M 271 0 0 ZNF267 NA10855,NA12762,NA18523,NA18856,NA18990,NA19119,NA19144,NA19240 dgv850e1 16 31736153 32079501 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2797,essv20051,essv21157,essv1347 M 271 0 0 HERC2P4,ZNF267 NA07048,NA12815,NA18987,NA19007 dgv851e1 16 31736153 32205188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21075,essv16237,essv24737 M 271 0 0 HERC2P4,LOC729264,ZNF267 NA06991,NA11829,NA19161 dgv852e1 16 31736153 32345224 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14508,essv2903 M 271 0 0 HERC2P4,LOC390705,LOC729264,ZNF267 NA18953,NA19202 dgv853e1 16 31736153 33295075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11838,essv11516,essv10275,essv12800,essv13576,essv18412 M 271 0 0 HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,ZNF267 NA12249,NA18506,NA19120,NA19160,NA19173,NA19221 nsv428325 16 31736153 33741546 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453104,nssv453168,nssv453140,nssv453102,nssv453063,nssv453065,nssv453181,nssv453187,nssv453188,nssv453139,nssv453157,nssv453190,nssv453117,nssv453092,nssv453098,nssv453184,nssv453196,nssv453155,nssv453189,nssv453105,nssv453101,nssv453066,nssv453141,nssv453161,nssv453070,nssv453100,nssv453111,nssv453195,nssv453192,nssv453151,nssv453167,nssv453099,nssv453136,nssv453094,nssv453093,nssv453096,nssv453107,nssv453116,nssv453159,nssv453160,nssv453202,nssv453152,nssv453203,nssv453103,nssv453156,nssv453201,nssv453106,nssv453194,nssv453095,nssv453150,nssv453154,nssv453193,nssv453200,nssv453143,nssv453185 M 62 20 7 HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,ZNF267 HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00473,HGDP00478,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv833196 16 31804882 31976454 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452557,nssv1452556 M 95 2 0 ZNF267 esv2640928 16 31828389 31832420 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273372 S 1 0 1 ZNF267 NA18507 esv2375355 16 31828773 31831952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598737 S 1 0 1 ZNF267 NA18507 esv29641 16 31829002 31831658 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11658 S 451 0 1 ZNF267 NA18508 dgv2675n71 16 31845097 31977497 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905763,nsv905762 M 6533 0 2 "" SP52081,SP57379 nsv9439 16 31862605 33726211 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25734,nssv22887,nssv23165,nssv23742,nssv26816,nssv22352,nssv23212,nssv23158,nssv23549,nssv24067,nssv23572,nssv22728,nssv28077,nssv26368,nssv23437,nssv24360,nssv24087,nssv20921,nssv22266,nssv23410,nssv26259,nssv22593,nssv22988,nssv22932,nssv23503,nssv25568,nssv26246,nssv24173,nssv23628,nssv22987,nssv24325,nssv23286,nssv24706,nssv23521,nssv23465,nssv21232,nssv27961,nssv23277,nssv26931,nssv22344,nssv25545,nssv24403,nssv26328,nssv21262,nssv24140,nssv23544,nssv20555,nssv22829,nssv23656,nssv26301,nssv26591,nssv26264,nssv26519,nssv26827,nssv21472,nssv21352,nssv20525,nssv21202,nssv22816,nssv24455,nssv22771,nssv22787,nssv26493,nssv26282,nssv23949,nssv26413,nssv23475,nssv25107,nssv26577,nssv26505,nssv26318,nssv26942,nssv22959,nssv23409,nssv23493,nssv24438,nssv22623,nssv23476,nssv26479,nssv22916,nssv20951,nssv24033,nssv21322,nssv28060,nssv25614,nssv22903,nssv23600,nssv26333,nssv20389,nssv26920,nssv22974,nssv22683,nssv21041,nssv20530,nssv20560,nssv23296,nssv26222,nssv21011,nssv22146,nssv21101,nssv20375,nssv21992,nssv22640,nssv20350,nssv26535,nssv26311,nssv27955,nssv22472,nssv20470,nssv25212,nssv22476,nssv22653,nssv25682,nssv22142,nssv22858,nssv26533,nssv26521,nssv20299,nssv22699,nssv20359,nssv22945,nssv22874,nssv26299,nssv26227,nssv23240,nssv22446,nssv23976,nssv25591,nssv24386,nssv25660,nssv27996,nssv22232,nssv22670,nssv23361,nssv22022,nssv24680,nssv26644,nssv22382,nssv25637,nssv25262,nssv27949,nssv23102,nssv25157,nssv22172,nssv22800,nssv23193,nssv25476,nssv26631,nssv26909,nssv26277,nssv22206,nssv23044,nssv23333,nssv25499,nssv22112,nssv27972,nssv23249,nssv20449,nssv27913,nssv22958,nssv25522,nssv22356,nssv24429,nssv22052,nssv23419,nssv22176,nssv26335,nssv24166,nssv24464,nssv22442,nssv27977,nssv23516,nssv23796,nssv22712,nssv25371,nssv26838,nssv28071,nssv22236,nssv21131,nssv21382,nssv20440,nssv22326,nssv26159,nssv28073,nssv26294,nssv26345,nssv25132,nssv23438,nssv24758,nssv23532,nssv23214,nssv23352,nssv24377,nssv24252,nssv23268,nssv23769,nssv20500,nssv28075,nssv23560,nssv23109,nssv23305,nssv24542,nssv26241,nssv24094,nssv28069,nssv24225,nssv22262,nssv23504,nssv23090,nssv26361,nssv26437,nssv24114,nssv26465,nssv24334,nssv20495,nssv26316,nssv26407,nssv23714,nssv24147,nssv24516,nssv23184,nssv26579,nssv25237,nssv26422,nssv23015,nssv24654,nssv23324,nssv20465,nssv23230,nssv24226,nssv23605,nssv23051,nssv23258,nssv26352,nssv20269,nssv22929,nssv23156,nssv27982,nssv28066,nssv23447,nssv26963,nssv24060,nssv23128,nssv23633,nssv23174,nssv23186,nssv27967,nssv23221,nssv26428,nssv23400,nssv25421,nssv26451,nssv22296,nssv23146,nssv24040,nssv25756,nssv24628,nssv20380,nssv23466,nssv22322,nssv23428,nssv23616,nssv24732,nssv28063,nssv24269,nssv27992,nssv26507,nssv20320,nssv22202,nssv24490,nssv23588,nssv24412,nssv23137,nssv23118,nssv23342,nssv22845,nssv20981,nssv24308,nssv24121,nssv23202,nssv26605,nssv24199,nssv26140,nssv21292,nssv23577,nssv26208,nssv25396,nssv23016,nssv20329,nssv20435,nssv23130,nssv22386,nssv23314,nssv22292,nssv26953,nssv27987,nssv24351,nssv26618 M 31 23 29 Samples from several populations that are part of the HapMap project. HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv833197 16 31864841 31995752 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452561,nssv1452559,nssv1452558,nssv1452560,nssv1452563,nssv1452565,nssv1452567,nssv1452566,nssv1452564,nssv1452562 M 95 6 4 "" esv21568 16 31867401 32004307 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18757,esv19582 M 451 9 1 "" NA07037,NA18502,NA18508,NA18523,NA18858,NA18861,NA18916,NA19129,NA19240,NA19257 nsv469789 16 31872116 32027194 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649810 M 265 4 0 Samples from several populations that are part of the HapMap project. "" dgv2676n71 16 31881951 32404517 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905769,nsv905764 M 6533 2 0 HERC2P4,LOC390705,LOC729264 SP55763,SP56834 nsv905765 16 31909325 32219723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563710 S 6533 0 1 HERC2P4,LOC390705,LOC729264 IS30051 dgv2677n71 16 31909325 32606822 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905766,nsv905768 M 6533 3 0 HERC2P4,LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B MS15508,SP52694,SP56950 nsv905767 16 31923247 32090048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516260 S 6533 1 0 HERC2P4 SP56710 nsv433444 16 31931481 33382661 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463325 S 9 1 0 Samples from several populations that are part of the HapMap project. HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B NA19240 dgv469n67 16 31944743 32004630 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827617,nsv827616 M 31 4 0 "" AK18,AK6,NA18951,NA18973 dgv854e1 16 31953353 32205188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20110,essv1897,essv17811,essv5117,essv6347,essv19610,essv10055,essv7561,essv12316,essv914,essv14692,essv21722,essv1734,essv9399,essv16327,essv8295,essv25020,essv17911,essv5283,essv4892,essv6679,essv6893,essv343,essv19701,essv3963 M 271 0 0 HERC2P4,LOC729264 NA07345,NA10831,NA10839,NA12003,NA12155,NA12248,NA12264,NA18545,NA18561,NA18577,NA18605,NA18608,NA18609,NA18624,NA18853,NA18970,NA18971,NA18976,NA18997,NA19000,NA19099,NA19103,NA19138,NA19159,NA19193 essv11015 16 31953353 32902091 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B NA19143 esv29952 16 31958973 33539082 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84191 S 3 1 0 HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B WATSON esv33069 16 31974497 33760388 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97512,essv92942,essv97093,essv99971,essv99646,essv96517,essv100486,essv98350 M 51 0 8 HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B 21616,21939,22075,22086,22217,22261,22298,22352 nsv436841 16 31976776 32915052 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465553 S 2 1 0 Samples from several populations that are part of the HapMap project. HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B NA18505 dgv2678n71 16 31985176 32579320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905780,nsv905770 M 6533 0 2 HERC2P4,LOC390705,LOC729264 MS14296,SP53041 dgv855e1 16 32007266 32345224 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7046,essv4202,essv2020 M 271 0 0 HERC2P4,LOC390705,LOC729264 NA18526,NA18612,NA18949 dgv856e1 16 32007266 32610994 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7069,essv21995,essv20586 M 271 0 0 HERC2P4,LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B NA07056,NA11995,NA18537 dgv857e1 16 32007266 32773201 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3796,essv22101,essv9037,essv8193,essv6163,essv8915,essv24891,essv12995,essv14102 M 271 0 0 HERC2P4,LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B NA07000,NA10857,NA18532,NA18859,NA18861,NA18943,NA19116,NA19132,NA19200 nsv833198 16 32009435 32190330 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452573,nssv1452571,nssv1452572,nssv1452568,nssv1452569,nssv1452570,nssv1452574,nssv1452575 M 95 7 1 HERC2P4,LOC729264 dgv2679n71 16 32011420 32282420 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905771,nsv905788,nsv905772 M 6533 3 0 HERC2P4,LOC390705,LOC729264 SP50831,SP53473,SP56125 dgv2680n71 16 32011420 32310543 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905774,nsv905773,nsv905778 M 6533 0 4 HERC2P4,LOC390705,LOC729264 IS30076,MS12265,MS15682,SP54704 dgv2681n71 16 32011420 32404517 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905784,nsv905783,nsv905775,nsv905779 M 6533 4 0 HERC2P4,LOC390705,LOC729264 MS19301,SP50592,SP52612,SP55764 dgv2682n71 16 32011420 32606822 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905789,nsv905785,nsv905786,nsv905782,nsv905791,nsv905793,nsv905807,nsv905776 M 6533 8 0 HERC2P4,LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B IS39243,MS18077,MS24783,SP52270,SP53734,SP55223,SP56734,SP58325 nsv469816 16 32019055 32204131 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649837 M 265 1 1 Samples from several populations that are part of the HapMap project. HERC2P4,LOC729264 nsv471693 16 32019055 32204131 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550749,nssv550753,nssv550752,nssv550751,nssv550750,nssv550748 M 48 4 2 HERC2P4,LOC729264 JK1058,JK1688,NA10472,NA10493,NA10969,NA17052 dgv2683n71 16 32031485 32242668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905781,nsv905777,nsv905787 M 6533 0 4 HERC2P4,LOC390705,LOC729264 IS38472,IS39420,IS41009,IS41603 nsv520222 16 32045466 33744011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697290 S 2026 0 1 HERC2P4,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B nsv527583 16 32045466 34802728 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704044 S 2026 1 0 HERC2P4,LINC00273,LOC100130700,LOC146481,LOC283914,LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B,UBE2MP1 nsv442720 16 32054387 32542265 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HERC2P4,LOC390705,LOC729264 nsv7281 16 32061335 32742620 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6668 S 9 0 0 HERC2P4,LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B NA12156 nsv905790 16 32062424 32579320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554683,nssv1519895 M 6533 1 1 HERC2P4,LOC390705,LOC729264 MS20888,SP50604 esv27116 16 32070702 32694488 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13731,esv10653,esv17324,esv18786,esv14303,esv17663,esv14537,esv18062,esv11108,esv10791,esv15256,esv16998,esv13412 M 451 23 7 HERC2P4,LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv905792 16 32071836 32242668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514214 S 6533 1 0 LOC390705,LOC729264 SP55971 nsv821684 16 32082890 33533065 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421317,nssv1421319,nssv1421318 M 31 3 0 LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B dgv2684n71 16 32100782 32330561 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905798,nsv905796,nsv905795,nsv905794 M 6533 0 4 LOC390705,LOC729264 IS32532,MS16128,MS23770,MS23916 dgv2685n71 16 32130558 32376539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905797,nsv905801 M 6533 0 2 LOC390705,LOC729264 IS34395,MS21242 dgv858e1 16 32140874 32205188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv452,essv22528,essv20238,essv24229,essv1262,essv2319,essv252,essv18216,essv18970,essv7157,essv3367,essv22972,essv5160,essv4693,essv23006,essv18250,essv3158,essv2229,essv23779,essv4616,essv13745,essv3124,essv773,essv4429,essv7415,essv18730,essv6037,essv6968,essv2684,essv17518,essv4801 M 271 0 0 LOC729264 NA07348,NA07357,NA10846,NA10856,NA12005,NA12057,NA12144,NA12762,NA12763,NA12812,NA12874,NA18547,NA18564,NA18571,NA18573,NA18582,NA18594,NA18620,NA18622,NA18623,NA18940,NA18945,NA18948,NA18952,NA18956,NA18960,NA18967,NA18969,NA18995,NA19012,NA19153 dgv859e1 16 32140874 32345224 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2440,essv5802,essv5749 M 271 0 0 LOC390705,LOC729264 NA18566,NA18593,NA18999 dgv860e1 16 32140874 32497894 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18182,essv22571,essv22986,essv12332,essv6374,essv19223,essv5320,essv12617,essv2223,essv1146,essv4983,essv3562,essv2243,essv11773,essv1283 M 271 0 0 LOC390705,LOC729264 NA07348,NA07357,NA10838,NA12057,NA18500,NA18504,NA18563,NA18572,NA18637,NA18960,NA18964,NA18965,NA18966,NA18995,NA19138 dgv861e1 16 32140874 32610994 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14391,essv830,essv21281,essv16137,essv3032,essv6614,essv12561,essv13188,essv17502,essv15716,essv21829,essv8439,essv4478,essv5501,essv4040,essv10169,essv20036,essv20952,essv15384,essv9124,essv23968,essv21153,essv22436,essv10814,essv450,essv9429,essv11257,essv10459,essv3699,essv7830,essv15657,essv16893,essv34 M 271 0 0 LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B NA07048,NA10855,NA11839,NA12761,NA12762,NA12801,NA12814,NA12815,NA18507,NA18515,NA18516,NA18552,NA18558,NA18621,NA18632,NA18635,NA18860,NA18871,NA18912,NA18947,NA18952,NA18973,NA18981,NA18991,NA19098,NA19100,NA19102,NA19130,NA19131,NA19203,NA19204,NA19205,NA19208 dgv862e1 16 32140874 33715261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2443,essv24805,essv24728,essv14438,essv10683,essv17342,essv14498,essv8739,essv9658,essv2861 M 271 0 0 LOC390705,LOC653550,LOC729264,SLC6A10P,TP53TG3,TP53TG3B NA10860,NA11829,NA18855,NA18856,NA18913,NA18953,NA18999,NA19092,NA19201,NA19202 nsv905799 16 32157905 32274360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503038 S 6533 0 1 LOC390705,LOC729264 SP51480 nsv905800 16 32157905 32300099 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512090 S 6533 1 0 LOC390705,LOC729264 SP55277 dgv2686n71 16 32157905 32443063 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905810,nsv905802,nsv905809,nsv905808 M 6533 6 0 LOC390705,LOC729264 IS41176,MS14313,MS16832,SP58218,SP58343,SP81198 dgv2687n71 16 32157905 32530051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905804,nsv905805,nsv905806,nsv905803,nsv905816 M 6533 0 5 LOC390705,LOC729264 IS30412,MS10843,MS13205,MS20305,MS20627 esv2421440 16 32165010 32621907 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052231,essv5084658,essv5077318,essv5156871,essv5133131,essv5147258,essv5103338,essv5107885,essv5058787,essv5091509,essv5065567,essv5073267,essv5089292,essv5135416,essv5112973,essv5160321,essv5035680,essv5056981,essv5070795,essv5060366,essv5035266,essv5026879,essv5040523,essv5060803,essv5133824,essv5105955,essv5122877,essv5054327,essv5131897,essv5047303,essv5159193,essv5122548,essv5152653,essv5006508,essv5159805,essv5004329,essv5159310,essv5118464,essv5068587,essv5067099,essv5109841,essv5031842,essv5045682,essv5007780,essv5019533,essv5158014,essv5134169,essv5019379,essv5031303,essv5079143,essv5051920,essv5100285,essv5109092,essv5040564,essv5152292,essv5117938,essv5010392,essv5123061,essv5031736,essv5138273,essv5003597,essv5092771,essv5141667,essv5112050,essv5097824,essv5089206,essv5020087,essv5142068,essv5137722,essv5139343,essv5128306,essv5034801,essv5098640,essv5021283,essv5107763,essv5066033,essv5152122,essv5156097,essv5076492,essv5015225,essv5080770,essv5106920,essv5102558,essv5007067,essv5021404,essv5139472,essv5068556,essv5019944,essv5003819,essv5094256,essv5078617,essv5156707,essv5140391,essv5147431,essv5069315,essv5094412,essv5043698,essv5115111,essv5136636,essv5118449,essv5034462,essv5140912,essv5147853,essv5078497,essv5050049,essv5085679,essv5032104,essv5105892,essv5004130,essv5097009,essv5108629,essv5077436,essv5082337,essv5130724,essv5082390,essv5117056,essv5093243,essv5115402,essv5146883,essv5117036,essv5117363,essv5013744,essv5160786,essv5069331,essv5151199,essv5093470,essv5129360,essv5048319,essv5094660,essv5058722,essv5029959,essv5064775,essv5113652,essv5073423,essv5146378,essv5152002,essv5086409,essv5058486,essv5032250,essv5052572,essv5003688,essv5028852,essv5091736,essv5158600,essv5086168,essv5018416,essv5154401,essv5143952,essv5082487,essv5147109,essv5122717,essv5091319,essv5146949,essv5032701,essv5135320,essv5159295,essv5042500,essv5012811,essv5123178,essv5127676,essv5126021,essv5024403,essv5109903,essv5038759,essv5135978,essv5134452,essv5018292,essv5113485,essv5038335,essv5077885,essv5116544,essv5150928,essv5141350,essv5079372,essv5136382,essv5096716,essv5131618,essv5030329,essv5141848,essv5033411,essv5049139,essv5160815,essv5132736,essv5013690,essv5026362,essv5114148,essv5084489,essv5120186,essv5018691,essv5147976,essv5098854,essv5013018,essv5109998,essv5109293,essv5116231,essv5143394,essv5102372,essv5118681,essv5103643,essv5052997,essv5122820,essv5104223,essv5111270,essv5024768,essv5073369,essv5123619,essv5031701,essv5142494,essv5109425,essv5109031,essv5101990,essv5082852,essv5136105,essv5102450,essv5032085,essv5068278,essv5106749,essv5155636,essv5051362,essv5155260,essv5032190,essv5023153,essv5067535,essv5120809,essv5069968,essv5045305,essv5023413,essv5120813,essv5098192,essv5076100,essv5043669,essv5103791,essv5091520,essv5114502,essv5021409,essv5068175,essv5045209,essv5083690,essv5142873,essv5148878,essv5146836,essv5118912,essv5111669,essv5060272,essv5079293,essv5034829,essv5155985,essv5054219,essv5125458,essv5142533,essv5121232,essv5111052,essv5039427,essv5099351,essv5031865,essv5027100,essv5013149,essv5018931,essv5145488,essv5125938,essv5040920,essv5153266,essv5108516,essv5096505,essv5060384,essv5015409,essv5149141,essv5072432,essv5009803,essv5015192,essv5027156,essv5152600,essv5151058,essv5021066,essv5132705,essv5154374,essv5049819,essv5108149,essv5044450,essv5118748,essv5107108,essv5082601,essv5117540,essv5015490,essv5079710,essv5026303,essv5046039,essv5066344,essv5007760,essv5086766,essv5058096,essv5082465,essv5139865,essv5008236,essv5141786,essv5009270,essv5079333,essv5077113,essv5125047,essv5029062,essv5159813,essv5158829,essv5135270,essv5093322,essv5122705,essv5092581,essv5082335,essv5011528,essv5058405,essv5075813,essv5142166,essv5154684,essv5062695,essv5144051,essv5083417,essv5124469,essv5048715,essv5049837,essv5014218,essv5158995,essv5131860,essv5078731,essv5146958,essv5039127,essv5158686,essv5062682,essv5080621,essv5123712,essv5022435,essv5137770,essv5119341,essv5084501,essv5001941,essv5133523,essv5104887,essv5129073,essv5068768,essv5145684,essv5147475,essv5087714,essv5121930,essv5114126,essv5085703,essv5098926,essv5155434,essv5021189,essv5051359,essv5092934,essv5072977,essv5112946,essv5153637,essv5100218,essv5095024,essv5084245,essv5143083,essv5073205,essv5066062,essv5111892,essv5114186,essv5039598,essv5082897,essv5102275,essv5021228,essv5093822,essv5079323,essv5034273,essv5017723,essv5039214,essv5062339,essv5112110,essv5156830,essv5024028,essv5017713,essv5073501,essv5024792,essv5044659,essv5035311,essv5083624,essv5124074,essv5096527,essv5099747,essv5020381,essv5067339,essv5014431,essv5061413,essv5036141,essv5103803,essv5019495,essv5067199,essv5053068,essv5042211,essv5101376,essv5002910,essv5118842,essv5081206,essv5027773,essv5109446,essv5024544,essv5067926,essv5016764,essv5078989,essv5134128,essv5095730,essv5004690,essv5117967,essv5039903,essv5028505,essv5090896,essv5049215,essv5018430,essv5007045,essv5130065,essv5062622,essv5084462,essv5062308,essv5039070,essv5054361,essv5152601,essv5141004,essv5157443,essv5092084,essv5009103,essv5109682,essv5031169,essv5101851,essv5057837,essv5015018,essv5153938,essv5005152,essv5065100,essv5081788,essv5059438,essv5124701,essv5057300,essv5037329,essv5122312,essv5068635,essv5071062,essv5133138,essv5037777,essv5116247,essv5071756,essv5088179,essv5111880,essv5067768,essv5101148,essv5048329,essv5124052,essv5137054,essv5013578,essv5160876,essv5151595,essv5057088,essv5106309,essv5137698,essv5037482,essv5135249,essv5135284,essv5043355,essv5045341,essv5132488,essv5128149,essv5151425,essv5161004,essv5058552,essv5108744,essv5156598,essv5093471,essv5003733,essv5123107,essv5131225,essv5088325,essv5104833,essv5037787,essv5054325,essv5105438,essv5062734,essv5128259,essv5040303,essv5104369,essv5074776,essv5057577,essv5057674,essv5150976,essv5122643,essv5024452,essv5033371,essv5083000,essv5074109,essv5020622,essv5132232,essv5004693,essv5038677,essv5027276,essv5033408,essv5119507,essv5160524,essv5043767,essv5130870,essv5098840,essv5146941,essv5018974,essv5006799,essv5069013,essv5112885,essv5062476,essv5134854,essv5009874,essv5102236,essv5062444,essv5104326,essv5144131,essv5085318,essv5051744,essv5080805,essv5014675,essv5150144,essv5074125,essv5088675,essv5132457,essv5016477,essv5138349,essv5103269,essv5068903,essv5092285,essv5074866,essv5017026,essv5139252,essv5147357,essv5135209,essv5120833,essv5153133,essv5048634,essv5017496,essv5020018,essv5089986,essv5152808,essv5002998,essv5151598,essv5113815,essv5016803,essv5036812,essv5010632,essv5088249,essv5160728,essv5158161,essv5004450,essv5011296,essv5009656,essv5137600,essv5104177,essv5082459,essv5081371,essv5151408,essv5081251,essv5124566,essv5019709,essv5150900,essv5159368,essv5126979,essv5046217,essv5117181,essv5036779,essv5079381,essv5097800,essv5155276,essv5122740,essv5023630,essv5158158,essv5082379,essv5033831,essv5050627,essv5100880,essv5005600,essv5120611,essv5014500,essv5039664,essv5155810,essv5038676,essv5002789,essv5090130,essv5007806,essv5129721,essv5060007,essv5151015,essv5093260,essv5022827,essv5142476,essv5091394,essv5107727,essv5161046,essv5087336,essv5128116,essv5146725,essv5072352,essv5052570,essv5005184,essv5100790,essv5006404,essv5045866,essv5044339,essv5080754,essv5011955,essv5133818,essv5040854,essv5073196,essv5057739,essv5032280,essv5151054,essv5161060,essv5025499,essv5088386,essv5122014,essv5138420,essv5021957,essv5082978,essv5109865,essv5159406,essv5081775,essv5151972,essv5019421,essv5138249,essv5153593,essv5148021,essv5125551,essv5052265,essv5145960,essv5072813,essv5133427,essv5142234,essv5007265,essv5136567,essv5101759,essv5042361,essv5059058,essv5049492,essv5011221,essv5031833,essv5036462,essv5119448 M 1184 81 559 LOC390705,LOC653550,LOC729264,TP53TG3,TP53TG3B NA06985,NA06986,NA06991,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07037,NA07045,NA07056,NA07345,NA07346,NA07347,NA07348,NA07357,NA07435,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10845,NA10846,NA10850,NA10853,NA10856,NA10859,NA10863,NA11829,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11919,NA11930,NA11931,NA11992,NA11993,NA11994,NA12003,NA12005,NA12006,NA12044,NA12045,NA12057,NA12144,NA12154,NA12155,NA12156,NA12248,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12335,NA12336,NA12341,NA12343,NA12344,NA12348,NA12375,NA12376,NA12383,NA12400,NA12413,NA12489,NA12546,NA12707,NA12716,NA12740,NA12749,NA12750,NA12751,NA12760,NA12763,NA12766,NA12767,NA12776,NA12812,NA12813,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12874,NA12875,NA12889,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17969,NA17970,NA17972,NA17977,NA17979,NA17981,NA17982,NA17983,NA17986,NA17988,NA17990,NA17993,NA17995,NA17996,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18109,NA18112,NA18114,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18133,NA18135,NA18140,NA18141,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18485,NA18487,NA18488,NA18489,NA18505,NA18506,NA18508,NA18510,NA18518,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18543,NA18544,NA18545,NA18546,NA18548,NA18552,NA18555,NA18557,NA18559,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18596,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18612,NA18615,NA18616,NA18617,NA18619,NA18620,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18633,NA18634,NA18636,NA18637,NA18638,NA18640,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18704,NA18747,NA18748,NA18749,NA18757,NA18854,NA18858,NA18862,NA18867,NA18869,NA18873,NA18874,NA18875,NA18923,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18945,NA18946,NA18948,NA18949,NA18951,NA18953,NA18954,NA18955,NA18956,NA18959,NA18960,NA18961,NA18962,NA18964,NA18965,NA18966,NA18967,NA18968,NA18970,NA18971,NA18974,NA18975,NA18976,NA18979,NA18980,NA18987,NA18994,NA18997,NA18998,NA18999,NA19001,NA19002,NA19009,NA19031,NA19035,NA19038,NA19054,NA19055,NA19057,NA19058,NA19059,NA19060,NA19062,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19083,NA19084,NA19085,NA19087,NA19088,NA19099,NA19101,NA19103,NA19107,NA19109,NA19117,NA19130,NA19138,NA19149,NA19152,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19176,NA19182,NA19192,NA19194,NA19199,NA19202,NA19206,NA19210,NA19211,NA19213,NA19225,NA19235,NA19236,NA19314,NA19316,NA19324,NA19332,NA19334,NA19350,NA19371,NA19375,NA19379,NA19381,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19428,NA19429,NA19430,NA19435,NA19437,NA19439,NA19446,NA19448,NA19449,NA19455,NA19466,NA19471,NA19473,NA19625,NA19649,NA19650,NA19651,NA19654,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19669,NA19670,NA19671,NA19675,NA19676,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19702,NA19711,NA19712,NA19714,NA19716,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19796,NA19835,NA19836,NA19901,NA19904,NA19914,NA19915,NA19916,NA19921,NA20129,NA20276,NA20277,NA20279,NA20282,NA20294,NA20295,NA20297,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20348,NA20502,NA20505,NA20506,NA20509,NA20510,NA20516,NA20517,NA20518,NA20520,NA20521,NA20525,NA20527,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20752,NA20754,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20766,NA20768,NA20770,NA20772,NA20774,NA20775,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20845,NA20847,NA20852,NA20854,NA20856,NA20858,NA20861,NA20862,NA20866,NA20874,NA20879,NA20887,NA20891,NA20892,NA20896,NA20897,NA20898,NA20900,NA20902,NA20903,NA20904,NA20906,NA20907,NA20909,NA20910,NA21088,NA21089,NA21090,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21106,NA21107,NA21108,NA21111,NA21115,NA21116,NA21117,NA21118,NA21123,NA21137,NA21297,NA21309,NA21363,NA21364,NA21366,NA21368,NA21379,NA21381,NA21385,NA21390,NA21408,NA21415,NA21420,NA21424,NA21435,NA21442,NA21448,NA21451,NA21485,NA21487,NA21494,NA21510,NA21513,NA21520,NA21523,NA21525,NA21528,NA21574,NA21575,NA21578,NA21587,NA21600,NA21613,NA21617,NA21648,NA21650,NA21682,NA21683,NA21685,NA21689,NA21693,NA21716,NA21717,NA21718,NA21723,NA21733,NA21740,NA21768,NA21825 dgv2688n71 16 32178790 32579320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905811,nsv905820,nsv905813 M 6533 5 3 LOC390705 IS30547,MS12406,MS15841,MS20583,MS20997,MS22353,SP52545,SP52754 dgv2689n71 16 32178790 32579320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905825,nsv905828,nsv905826,nsv905818,nsv905812,nsv905815 M 6533 11 0 LOC390705 IS40098,MS12947,MS13721,MS14437,MS23531,SP51165,SP52253,SP54857,SP54921,SP55426,SP81333 nsv833199 16 32190210 32341110 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452577,nssv1452576 M 95 0 2 LOC390705 nsv509612 16 32193206 32214079 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623695,nssv619685,nssv618116 M 4 3 0 LOC390705 CHM,NA10860,NA18994 nsv1789 16 32198944 32220115 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1304,nssv10952,nssv10088,nssv6669 M 9 4 0 LOC390705 NA12156,NA15510,NA18956,NA19240 nsv142 16 32202996 32209339 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv142 S 1 1 0 LOC390705 NA15510 dgv863e1 16 32206388 32902091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15897,essv10746,essv10587 M 271 0 0 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B NA18523,NA19223,NA19240 dgv864e1 16 32206388 33452774 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2601,essv6310,essv13774,essv14750,essv9335,essv16355,essv5273,essv16254,essv18313,essv1467 M 271 0 0 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B NA10846,NA18609,NA18624,NA18853,NA18944,NA18990,NA19153,NA19159,NA19161,NA19193 dgv2690n71 16 32223154 32404517 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905822,nsv905819,nsv905821,nsv905817,nsv905814 M 6533 11 0 "" MS14779,MS14961,MS17964,MS18288,MS18540,MS24738,SP50679,SP52568,SP54766,SP55842,SP81432 dgv2691n71 16 32258794 32463275 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905823,nsv905824,nsv905827 M 6533 3 0 "" MS20361,SP52376,SP54393 nsv905829 16 32274360 32652684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519934 S 6533 1 0 LOC653550,TP53TG3,TP53TG3B SP50622 esv2036018 16 32278618 32279502 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894191 S 1 0 1 "" NA18507 nsv833200 16 32287041 32440412 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452578 S 95 1 0 "" dgv865e1 16 32296493 32610994 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16916,essv11808,essv7146,essv13611,essv17601,essv23422,essv21778,essv3279,essv16406,essv13098,essv12709,essv14161,essv11907,essv11765 M 271 0 0 LOC653550,TP53TG3,TP53TG3B NA10854,NA12239,NA12753,NA18502,NA18504,NA18521,NA18547,NA18852,NA18914,NA18972,NA19127,NA19139,NA19140,NA19144 dgv866e1 16 32296493 32758111 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv285,essv18064,essv14638,essv22416,essv10946 M 271 0 0 LOC653550,TP53TG3,TP53TG3B NA10861,NA12145,NA18978,NA19093,NA19209 nsv827618 16 32298891 32394373 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439313,nssv1436263,nssv1427096,nssv1436203 M 31 4 0 "" AK6,NA18566,NA18592,NA18973 dgv2692n71 16 32300099 32530051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905830,nsv905832,nsv905845,nsv905844 M 6533 0 5 "" IS30265,IS41769,MS10443,MS12401,MS21992 esv2138015 16 32300602 32301139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807554 S 1 0 1 "" NA18507 nsv905831 16 32310543 32498422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574919 S 6533 1 0 "" IS33665 dgv2693n71 16 32330561 32511911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905833,nsv905854 M 6533 7 5 "" IS34610,MS11171,MS15915,MS16724,MS17808,MS20681,MS21457,MS22998,MS23008,SP50711,SP54220,SP55465 dgv2694n71 16 32330561 32579320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905834,nsv905846 M 6533 7 2 "" IS39088,MS10227,MS13774,MS14810,MS21195,MS21841,SP51112,SP53563,SP55295 dgv2695n71 16 32343753 32449148 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905837,nsv905838,nsv905836,nsv905835 M 6533 4 0 "" MS14737,MS16308,SP52816,SP55339 dgv2696n71 16 32343753 32502614 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905840,nsv905843,nsv905839,nsv905841,nsv905842 M 6533 5 0 "" IS31419,MS13095,MS20520,SP50117,SP50159 dgv2697n71 16 32343753 32579320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905857,nsv905855,nsv905858,nsv905847,nsv905856,nsv905859 M 6533 8 0 "" IS38688,MS10228,SP50870,SP52231,SP55310,SP55318,SP56710,SP81149 dgv2698n71 16 32343753 32606822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905849,nsv905860,nsv905848 M 6533 0 3 LOC653550,TP53TG3,TP53TG3B MS15428,MS24900,SP55362 esv996232 16 32357587 32361938 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563676 S 3 1 0 "" HuRef nsv905850 16 32359228 32423732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560706 S 6533 1 0 "" MS24662 nsv905851 16 32359228 32457247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577154 S 6533 0 1 "" IS34374 dgv2699n71 16 32359228 32471758 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905852,nsv905853 M 6533 2 0 "" MS14323,MS23191 nsv511570 16 32364194 32464599 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626196 S 1 0 1 "" 1 esv997535 16 32365293 32365568 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565098 S 3 1 0 "" HuRef esv1010727 16 32365364 32369228 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564478 S 3 1 0 "" HuRef esv2602641 16 32371164 32381615 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355754 S 1 1 0 "" NA18507 dgv2700n71 16 32380006 32424534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905862,nsv905861 M 6533 0 2 "" MS14984,MS23984 dgv2701n71 16 32380006 32476291 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905887,nsv905889,nsv905888,nsv905863,nsv905864 M 6533 7 0 "" IS34271,IS35245,IS38403,IS41045,IS41648,SP55992,SP56330 dgv2702n71 16 32380006 32511911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905988,nsv905987,nsv905867,nsv905891,nsv905869,nsv905879,nsv905893,nsv905892,nsv905866,nsv905868,nsv905865 M 6533 17 0 "" IS30837,IS33455,IS33797,IS34005,IS34235,IS34304,IS38176,IS40396,IS40819,IS41410,IS41634,MS11726,MS24020,SP52531,SP56385,SP57852,SP58305 dgv2703n71 16 32380006 32530051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905874,nsv905870,nsv905872 M 6533 0 4 "" IS33712,IS38067,MS23949,SP54790 dgv2704n71 16 32380006 32530051 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905950,nsv905949,nsv905871,nsv905991,nsv905873,nsv905911,nsv905894,nsv905924,nsv906024,nsv905992,nsv906025,nsv905904,nsv905963 M 6533 82 182 "" IS30076,IS30098,IS30118,IS30276,IS30389,IS30694,IS30725,IS31098,IS31137,IS31441,IS32322,IS32644,IS32888,IS32918,IS33162,IS33178,IS33192,IS33232,IS33493,IS33504,IS33689,IS33696,IS33776,IS34361,IS34407,IS34748,IS34760,IS35436,IS36893,IS37291,IS37498,IS37995,IS38098,IS38266,IS38388,IS38472,IS38618,IS38649,IS39272,IS39343,IS39360,IS39420,IS39450,IS39525,IS39637,IS39817,IS40024,IS40103,IS40230,IS40297,IS40420,IS40708,IS40801,IS40879,IS40883,IS40956,IS41192,IS41319,IS41331,IS41810,IS41818,IS41824,IS41830,IS41840,IS41905,MS10226,MS10241,MS10291,MS10638,MS10666,MS11004,MS11084,MS11105,MS11364,MS11435,MS11641,MS12027,MS13099,MS13143,MS13426,MS13552,MS13553,MS13957,MS14336,MS15092,MS15389,MS15707,MS15752,MS16107,MS16126,MS16128,MS16268,MS16334,MS16399,MS16588,MS16704,MS16707,MS16772,MS16940,MS16947,MS17389,MS17394,MS17563,MS17642,MS17852,MS17878,MS18021,MS18132,MS18143,MS18174,MS18376,MS18407,MS18413,MS18465,MS18510,MS18588,MS18940,MS19008,MS19184,MS19321,MS19397,MS19438,MS19599,MS19634,MS19700,MS19736,MS20170,MS20196,MS20254,MS20269,MS20334,MS20346,MS20702,MS20860,MS20925,MS21117,MS21343,MS21465,MS21483,MS21515,MS21558,MS21677,MS21833,MS22245,MS22608,MS22742,MS22797,MS23079,MS23098,MS23105,MS23165,MS23490,MS23542,MS23577,MS23626,MS23627,MS23811,MS23983,MS24031,MS24046,MS24051,MS24052,MS24121,MS24223,MS24274,MS24339,MS24360,MS24365,MS24374,MS24508,MS24517,MS24714,MS24805,MS24812,MS24918,MS25112,MS25529,MS25589,MS25747,MS25765,MS25801,MS25853,MS25870,MS25903,MS26110,MS26151,SP50125,SP50137,SP50170,SP50520,SP50528,SP50831,SP50942,SP50979,SP50985,SP51145,SP51147,SP51237,SP51469,SP52349,SP52386,SP52633,SP52732,SP53293,SP53415,SP53425,SP53602,SP53625,SP53670,SP53745,SP53812,SP54148,SP54355,SP54430,SP54510,SP54517,SP54544,SP54561,SP54648,SP54652,SP54663,SP54666,SP54673,SP54993,SP55261,SP55304,SP55388,SP55542,SP55565,SP55966,SP55970,SP56003,SP56294,SP56787,SP56890,SP56903,SP56949,SP57044,SP57410,SP57463,SP57469,SP57672,SP57690,SP57734,SP57905,SP57958,SP58031,SP58097,SP58378,SP58432,SP58467,SP58480,SP58558,SP80928,SP80953,SP80994,SP81039,SP81354,SP81364,SP81408,SP81422,SP81495,SP81556,SP81574 dgv2705n71 16 32380006 32556470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905881,nsv905880,nsv905897,nsv905895,nsv905876 M 6533 8 0 "" IS30206,IS39453,IS40799,MS12071,SP50753,SP51368,SP55355,SP56125 dgv2706n71 16 32380006 32579320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906026,nsv905952,nsv905896,nsv905993,nsv905995,nsv905875 M 6533 33 27 "" IS30369,IS31198,IS31861,IS32714,IS33601,IS33632,IS33868,IS33871,IS34648,IS34805,IS35007,IS37874,IS38069,IS39407,IS40368,IS40940,MS10123,MS10204,MS11306,MS11669,MS12265,MS12506,MS13441,MS14986,MS16008,MS16153,MS16323,MS17128,MS17208,MS17421,MS17438,MS17522,MS17562,MS17678,MS20919,MS21325,MS22104,MS23290,MS23770,MS23916,MS24672,MS24854,MS25373,SP50522,SP50661,SP50775,SP51290,SP53569,SP53616,SP54139,SP54617,SP55456,SP55971,SP56707,SP56849,SP56861,SP56882,SP57771,SP58343,SP58465 dgv2707n71 16 32380006 32660911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905877,nsv905898,nsv905899,nsv905997 M 6533 4 0 LOC653550,TP53TG3,TP53TG3B IS30925,IS39784,MS25394,SP56132 dgv2708n71 16 32380006 32722636 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905998,nsv905928,nsv906090,nsv905878,nsv906209 M 6533 0 5 LOC653550,TP53TG3,TP53TG3B IS32532,IS41009,IS41603,MS14824,SP55026 nsv433303 16 32386670 32586534 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463184 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18555 esv2527591 16 32394581 32435815 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281870 S 1 1 0 "" NA18507 nsv905882 16 32396948 32423732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537452 S 6533 0 1 "" MS13211 dgv2709n71 16 32396948 32439052 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905884,nsv905883,nsv905885 M 6533 0 4 "" IS37698,MS12347,MS18896,SP54122 nsv905886 16 32396948 32466036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585711 S 6533 0 1 "" IS37632 dgv2710n71 16 32396948 32489297 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905944,nsv905890,nsv906021,nsv905903,nsv905921,nsv905922,nsv906022 M 6533 0 10 "" IS34549,IS35461,IS39388,MS11002,MS11494,MS11791,MS13401,MS16559,MS17204,MS21637 nsv905900 16 32396948 32772711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532062 S 6533 1 0 LOC653550,TP53TG3,TP53TG3B MS10699 nsv435670 16 32399802 32406285 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465555 S 2 0 1 "" NA15510 nsv512432 16 32401981 32405814 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625025 S 1 0 1 "" 1 esv2490073 16 32402683 32405957 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308987 S 1 0 1 "" NA18507 esv7432 16 32403105 32405319 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29873 S 1 0 1 "" SJK dgv2711n71 16 32404959 32429465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905917,nsv905967,nsv905901,nsv905932 M 6533 0 4 "" IS34352,IS38380,MS12812,SP51087 dgv2712n71 16 32405177 32450736 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906014,nsv905920,nsv906013,nsv905939,nsv905940,nsv905902,nsv905919,nsv905937 M 6533 0 8 "" IS38202,MS14923,MS14953,MS14978,MS15342,MS15905,SP51480,SP81146 dgv2713n71 16 32405177 32597414 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906129,nsv906035,nsv905954,nsv905955,nsv906116,nsv905905,nsv906246,nsv906028,nsv906156,nsv905956,nsv906056,nsv905913 M 6533 20 0 LOC653550,TP53TG3,TP53TG3B MS13918,MS15749,MS16122,MS18011,MS18392,MS18503,MS20200,MS22494,SP52572,SP52940,SP53643,SP54050,SP54401,SP55277,SP55345,SP56458,SP56797,SP56834,SP57273,SP57706 dgv2714n71 16 32405464 32429581 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905969,nsv905906,nsv905934,nsv905933 M 6533 5 5 "" IS37837,IS40748,MS10946,MS17047,MS17689,MS19023,MS19922,MS22382,SP54999,SP57831 dgv2715n71 16 32405464 32436453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905908,nsv905918,nsv905907,nsv905936 M 6533 0 4 "" MS14421,MS15479,MS22453,SP57875 dgv2716n71 16 32405464 32436693 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905909,nsv905935 M 6533 2 0 "" MS20117,SP52379 dgv2717n71 16 32405464 32511911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906093,nsv906023,nsv905989,nsv905948,nsv905990,nsv906054,nsv906059,nsv906078,nsv905961,nsv906039,nsv906062,nsv906077,nsv905947,nsv905910,nsv905962 M 6533 0 18 "" IS32679,IS39333,IS39660,IS41971,MS10515,MS14769,MS16531,MS16926,MS25177,MS25338,MS25868,MS25986,SP50120,SP54812,SP55134,SP55200,SP81019,SP81348 dgv2718n71 16 32405464 32530051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905925,nsv905951,nsv906043,nsv906127,nsv905912,nsv905964 M 6533 0 11 "" IS30051,IS38198,MS10951,MS16406,MS19606,MS19852,MS21857,MS23258,SP50665,SP54556,SP58536 dgv2719n71 16 32405464 32606822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905965,nsv905927,nsv905958,nsv906029,nsv905926,nsv905957,nsv905914,nsv905996 M 6533 0 11 LOC653550,TP53TG3,TP53TG3B MS10362,MS14993,MS15216,MS15682,MS19246,MS24187,MS25730,SP54704,SP55212,SP55488,SP57010 dgv2720n71 16 32405894 32424534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv905930,nsv905929,nsv905915,nsv905916 M 6533 0 10 "" MS10897,MS12520,MS17529,MS18248,MS20878,MS23077,MS24719,SP55003,SP55093,SP55531 dgv2721n71 16 32405894 32489297 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905943,nsv905986,nsv905923,nsv906052,nsv905942,nsv905983,nsv905984,nsv906034,nsv905982 M 6533 10 0 "" IS30835,IS31090,IS35802,IS39258,IS41858,MS11467,MS17624,MS18779,MS22970,SP81072 nsv905931 16 32406646 32426991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575326 S 6533 1 0 "" IS33705 dgv2722n71 16 32406646 32445732 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905960,nsv905938,nsv905977 M 6533 3 0 "" MS14630,MS23163,SP54750 dgv2723n71 16 32406646 32467276 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906019,nsv905980,nsv905941,nsv906016,nsv905978 M 6533 6 0 "" IS35582,SP50637,SP52027,SP52058,SP55106,SP57640 dgv2724n71 16 32406646 32489297 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905981,nsv905985,nsv905945,nsv905946 M 6533 6 4 "" IS30311,IS30567,IS31728,IS32150,IS33772,IS39473,IS41877,IS41964,MS11237,MS14913 dgv2725n71 16 32406646 32579320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905966,nsv906184,nsv906114,nsv906057,nsv905994,nsv906144,nsv905953,nsv906224,nsv906027,nsv906265,nsv906263 M 6533 30 27 "" IS35675,IS41768,IS41926,MS12860,MS13177,MS13549,MS18278,MS19011,MS21795,MS22279,MS22382,MS23184,MS24738,MS24877,MS25330,MS25710,SP50623,SP50629,SP50690,SP50855,SP50921,SP51037,SP51132,SP51196,SP51473,SP52432,SP52588,SP52604,SP52772,SP52816,SP53044,SP53302,SP53473,SP53719,SP54402,SP54580,SP54726,SP54879,SP55041,SP55346,SP55509,SP55586,SP55637,SP55652,SP55684,SP55764,SP55822,SP55843,SP56108,SP56690,SP56976,SP57193,SP57341,SP57534,SP58206,SP81107,SP81403 dgv2726n71 16 32409337 32436693 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv905974,nsv905973,nsv905975,nsv905959,nsv906032,nsv905968,nsv906008,nsv905972,nsv905971 M 6533 9 0 "" MS13383,MS14384,SP50623,SP50692,SP51200,SP53550,SP55061,SP55321,SP81194 nsv512433 16 32410056 32421020 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625026 S 1 0 1 "" 1 dgv2727n71 16 32410369 32437238 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv905976,nsv906010,nsv906011 M 6533 5 4 "" IS37068,IS38505,MS13294,MS19553,MS21180,MS24032,SP50182,SP53972,SP56104 dgv2728n71 16 32410369 32437908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906009,nsv906006,nsv906007,nsv906004,nsv905970,nsv906012,nsv906005 M 6533 0 10 "" IS32699,IS36475,IS38269,IS38436,IS40795,MS10164,MS10430,MS13491,MS15511,MS17363 dgv2729n71 16 32410369 32459884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906017,nsv905979 M 6533 0 2 "" MS22306,MS23868 nsv436209 16 32410543 32421217 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465556 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv2730n71 16 32413490 32429581 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906002,nsv906000,nsv906001 M 6533 4 10 "" IS34262,IS35691,IS38650,MS10999,MS15008,MS16396,MS18311,MS19093,MS21088,MS25771,SP51079,SP51218,SP57580,SP58077 dgv2731n71 16 32413490 32430029 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906003,nsv906030,nsv905999 M 6533 0 4 "" IS35568,MS16188,SP54838,SP81481 dgv2732n71 16 32413490 32463275 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906015,nsv906018 M 6533 2 3 "" MS12943,MS15637,MS23227,SP52701,SP81498 dgv2733n71 16 32413490 32481352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906075,nsv906020,nsv906033,nsv906051,nsv906038 M 6533 0 5 "" IS30365,IS30395,IS36064,IS37848,IS40291 nsv906031 16 32415316 32432070 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520513 S 6533 1 0 "" SP51105 dgv2734n71 16 32419415 32435284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906036,nsv906040,nsv906044 M 6533 0 4 "" IS34811,IS38210,IS38582,SP50177 dgv2735n71 16 32419415 32454287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906037,nsv906071 M 6533 2 0 "" MS14210,SP57741 dgv867e1 16 32419813 32610994 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3228,essv12466,essv761,essv22037,essv24938,essv2690,essv6002,essv20250,essv23556,essv5811,essv4743,essv5118,essv20626,essv4130,essv4646,essv5720,essv21371,essv7035,essv15598,essv13681,essv12669,essv1094 M 271 0 0 LOC653550,TP53TG3,TP53TG3B NA06993,NA06994,NA07056,NA12144,NA12154,NA12740,NA18500,NA18555,NA18566,NA18571,NA18577,NA18593,NA18594,NA18612,NA18620,NA18956,NA18964,NA18967,NA18974,NA19119,NA19137,NA19207 dgv868e1 16 32419813 32773201 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4877,essv17843,essv1768,essv4181,essv1361,essv19621,essv10027,essv18609,essv6682,essv1855,essv21718,essv7092,essv23369,essv6895,essv24985,essv2012,essv18954,essv20128,essv5900,essv4008 M 271 0 0 LOC653550,TP53TG3,TP53TG3B NA07345,NA10831,NA10839,NA12005,NA12155,NA12234,NA12248,NA12750,NA18526,NA18537,NA18550,NA18561,NA18605,NA18608,NA18949,NA18970,NA18976,NA18997,NA19007,NA19099 dgv2736n71 16 32420930 32463275 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906058,nsv906049,nsv906082,nsv906041 M 6533 5 0 "" IS31656,MS15541,MS18821,SP56960,SP81475 nsv906042 16 32420930 32475100 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576125,nssv1589584 M 6533 1 1 "" IS33878,IS38386 dgv2737n71 16 32421616 32437238 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906045,nsv906046 M 6533 2 0 "" MS16774,SP53448 nsv906047 16 32421616 32443063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527885 S 6533 0 1 "" SP81061 dgv2738n71 16 32421616 32459884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906072,nsv906048,nsv906061 M 6533 0 4 "" MS15777,MS20204,SP50046,SP56708 dgv2739n71 16 32421616 32481352 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906085,nsv906050,nsv906073,nsv906088,nsv906074,nsv906083 M 6533 6 0 "" IS33248,MS12262,MS18123,MS18848,SP51111,SP56959 dgv2740n71 16 32421616 32515939 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906212,nsv906089,nsv906126,nsv906153,nsv906119,nsv906103,nsv906076,nsv906248,nsv906143,nsv906053 M 6533 14 0 "" MS10150,MS10375,MS11054,MS12196,MS17817,MS21780,MS21866,MS22177,MS25839,SP51109,SP54603,SP56380,SP56419,SP57884 dgv2741n71 16 32421616 32530051 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906113,nsv906278,nsv906055,nsv906207 M 6533 4 0 "" IS31326,SP52655,SP80936,SP81198 dgv2742n71 16 32424534 32432946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906081,nsv906063,nsv906060 M 6533 0 3 "" IS38382,IS38525,SP56032 nsv512434 16 32425197 32427819 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625027 S 1 0 1 "" 1 dgv2743n71 16 32425564 32436693 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906064,nsv906067 M 6533 3 3 "" IS31144,MS10674,MS19703,MS25833,SP52359,SP53441 dgv2744n71 16 32425564 32437238 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906066,nsv906065,nsv906068 M 6533 3 0 "" MS22268,SP54935,SP57659 dgv2745n71 16 32425564 32449148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906069,nsv906070,nsv906087 M 6533 0 4 "" MS10968,MS16797,MS26050,SP80943 dgv2746n71 16 32425564 32511911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906222,nsv906112,nsv906155,nsv906182,nsv906079,nsv906245,nsv906102,nsv906223,nsv906262 M 6533 35 55 "" IS32699,IS33705,IS33888,IS34820,IS35011,IS35691,IS40145,IS40280,IS40676,MS10094,MS10821,MS11300,MS11981,MS12039,MS12782,MS12812,MS12913,MS13028,MS13030,MS13211,MS13252,MS13363,MS13383,MS14247,MS14728,MS14984,MS15511,MS15780,MS16213,MS16621,MS16697,MS16863,MS17097,MS17408,MS18276,MS18368,MS18485,MS19677,MS20047,MS20828,MS21194,MS21737,MS21928,MS22848,MS23210,MS23725,MS23984,MS24098,MS24172,MS24620,MS25280,MS25703,MS25771,MS25902,SP50692,SP50767,SP50843,SP51380,SP51413,SP52224,SP52313,SP53330,SP53342,SP53527,SP54285,SP54832,SP54846,SP54999,SP55032,SP55061,SP55167,SP55473,SP56012,SP56347,SP56762,SP56845,SP56848,SP57042,SP57603,SP57831,SP58077,SP58257,SP81114,SP81117,SP81127,SP81182,SP81189,SP81239,SP81459,SP81536 dgv2747n71 16 32425564 32556470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906185,nsv906080,nsv906335 M 6533 3 0 "" SP54935,SP56041,SP80977 esv5773 16 32426350 32427005 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28214 S 1 0 1 "" SJK nsv906084 16 32427668 32434537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572061 S 6533 0 1 "" IS32850 nsv906086 16 32428549 32437238 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533421,nssv1549089 M 6533 2 0 "" MS11165,MS18053 dgv2748n71 16 32429581 32476619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906099,nsv906092,nsv906109,nsv906115,nsv906107,nsv906108,nsv906091 M 6533 7 0 "" IS33256,MS10278,MS15835,MS21038,MS23886,SP53402,SP57736 dgv2749n71 16 32430905 32579320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906208,nsv906321,nsv906095,nsv906186,nsv906187,nsv906094,nsv906128,nsv906279,nsv906194 M 6533 0 14 "" IS36640,IS41747,MS10164,MS14258,MS15672,MS18894,MS20195,MS23025,SP50097,SP51450,SP54434,SP56106,SP57037,SP80925 dgv2750n71 16 32431820 32468721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906096,nsv906100 M 6533 0 2 "" MS12387,SP51241 dgv2751n71 16 32431820 32481955 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906257,nsv906225,nsv906110,nsv906240,nsv906239,nsv906097,nsv906125,nsv906220,nsv906139,nsv906211,nsv906124,nsv906219,nsv906218,nsv906131,nsv906101,nsv906177,nsv906259,nsv906258 M 6533 0 27 "" IS34352,IS34386,IS35142,IS35568,IS37040,IS37270,IS38513,IS38600,IS38621,IS39678,IS39832,IS41875,MS10352,MS18185,MS19649,MS23541,MS24563,MS26030,SP53685,SP54122,SP55084,SP55183,SP55795,SP57580,SP57585,SP81481,SP81538 dgv2752n71 16 32432070 32454287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906118,nsv906098 M 6533 2 0 "" IS35270,SP81501 esv5572 16 32432193 32432670 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28013 S 1 0 1 "" SJK nsv906104 16 32432946 32439877 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528814 S 6533 1 0 "" SP81363 dgv2753n71 16 32432946 32443063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906117,nsv906105 M 6533 0 2 "" MS14334,SP50700 dgv2754n71 16 32432946 32454712 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906163,nsv906162,nsv906150,nsv906106,nsv906135,nsv906198 M 6533 0 11 "" IS36594,MS14388,MS20008,MS20878,MS23628,MS24864,MS25675,SP53368,SP53728,SP55003,SP55093 dgv2755n71 16 32432946 32511911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906111,nsv906181,nsv906277,nsv906204,nsv906221,nsv906244,nsv906242,nsv906243,nsv906179,nsv906206,nsv906141,nsv906193,nsv906154,nsv906276,nsv906180,nsv906140,nsv906142,nsv906205 M 6533 0 50 "" IS30406,IS37069,IS38294,IS40748,IS40795,MS10061,MS10430,MS10626,MS10946,MS12055,MS13693,MS14421,MS14855,MS14938,MS15014,MS16396,MS16471,MS17235,MS17375,MS17529,MS17689,MS17825,MS18175,MS18248,MS18311,MS19292,MS21088,MS22337,MS22453,MS22505,MS25244,MS26145,SP50527,SP50571,SP51402,SP52220,SP52282,SP52537,SP52614,SP53287,SP53857,SP54117,SP54311,SP54836,SP55055,SP55531,SP56614,SP56728,SP81351,SP81505 esv270615 16 32433089 32439162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516695,essv2518175,essv2516073,essv2514485,essv2517767,essv2519154,essv2518273 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12872,NA12873,NA12874,NA12878,NA19141,NA19240 esv272503 16 32433089 32439162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581372,essv2581244 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv906120 16 32435284 32443063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532303 S 6533 1 0 "" MS10745 esv2629091 16 32435815 32716834 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393000 S 1 1 0 LOC653550,TP53TG3,TP53TG3B NA18507 dgv2756n71 16 32436693 32451733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906149,nsv906121,nsv906134,nsv906148,nsv906133,nsv906196,nsv906214 M 6533 0 10 "" IS35447,IS37157,IS39248,MS11191,MS15220,MS15704,MS25553,SP50580,SP54190,SP54833 dgv2757n71 16 32436693 32454712 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906190,nsv906227,nsv906122 M 6533 3 0 "" MS16078,MS25696,SP53474 dgv2758n71 16 32436693 32471976 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906253,nsv906170,nsv906229,nsv906203,nsv906230,nsv906231,nsv906233,nsv906172,nsv906171,nsv906174,nsv906232,nsv906234,nsv906252,nsv906192,nsv906217,nsv906123 M 6533 0 23 "" IS30331,IS30620,IS31334,IS35205,IS36475,IS37210,IS37837,IS37946,IS38002,IS38379,IS38380,IS38394,IS38441,IS38448,IS38525,IS39503,IS39687,IS40886,IS41180,MS18896,MS25331,MS25580,SP54191 dgv2759n71 16 32437238 32447083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906130,nsv906146,nsv906189,nsv906188 M 6533 0 5 "" IS39888,SP50569,SP50646,SP52328,SP55417 nsv906132 16 32437365 32443063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541071 S 6533 0 1 "" MS15198 dgv2760n71 16 32437365 32460854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906191,nsv906165,nsv906166,nsv906137,nsv906136,nsv906249,nsv906247,nsv906168,nsv906200,nsv906151,nsv906199,nsv906250,nsv906215,nsv906164 M 6533 0 18 "" IS30255,IS35431,IS38549,IS38620,IS40264,IS40415,IS40930,MS10183,MS10444,MS14818,MS17536,MS24272,MS24798,MS25833,SP54162,SP54753,SP57665,SP81412 dgv2761n71 16 32437365 32465116 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906201,nsv906167,nsv906210,nsv906152,nsv906202,nsv906138,nsv906216 M 6533 8 0 "" IS40318,MS12758,MS13293,MS26128,SP51014,SP56395,SP81194,SP81228 dgv2762n71 16 32437908 32445732 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906158,nsv906145,nsv906157 M 6533 8 8 "" MS11487,MS11635,MS12045,MS14513,MS14708,MS15867,MS16036,MS17091,MS24483,MS24705,MS24872,SP53700,SP54543,SP55165,SP55290,SP57058 nsv906147 16 32437908 32449148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518510 S 6533 1 0 "" SP57651 dgv2763n71 16 32438272 32450736 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906159,nsv906160 M 6533 2 12 "" IS36383,IS38123,MS10682,MS10686,MS11389,MS16188,MS19035,MS20009,MS21891,SP50904,SP52416,SP53252,SP53998,SP81077 dgv2764n71 16 32438272 32454604 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906226,nsv906161,nsv906197 M 6533 4 6 "" IS33487,IS34473,MS10615,MS10875,MS13408,MS20784,MS23077,MS24719,SP54275,SP55189 dgv2765n71 16 32438272 32463275 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906169,nsv906251,nsv906228 M 6533 14 12 "" IS30221,IS32343,IS34262,IS34531,IS34582,IS35025,IS35146,IS35312,IS36698,IS38143,IS38611,IS39116,MS10867,MS13160,MS15291,MS17047,MS20543,MS21242,MS25440,SP50091,SP51179,SP52568,SP54090,SP55108,SP57671,SP81197 dgv2766n71 16 32438272 32477792 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906255,nsv906282,nsv906284,nsv906175,nsv906176,nsv906235,nsv906237,nsv906268,nsv906269 M 6533 11 0 "" IS30616,IS33558,IS34981,IS40950,MS21924,MS24139,MS25241,MS25308,MS25564,MS25755,SP52893 dgv2767n71 16 32438272 32481352 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906236,nsv906173,nsv906238,nsv906241,nsv906256,nsv906254 M 6533 9 8 "" IS30580,IS30967,IS34996,IS38113,IS38152,MS10461,MS10999,MS13491,MS19304,MS19341,MS19922,MS24587,MS24875,SP50936,SP52003,SP54326,SP81363 dgv2768n71 16 32438272 32500561 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906333,nsv906297,nsv906298,nsv906178,nsv906299 M 6533 6 0 "" IS38579,MS17974,MS23973,SP50660,SP51279,SP53709 dgv2769n71 16 32438272 32530051 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906183,nsv906312 M 6533 3 3 "" IS38436,MS13129,MS14105,MS20117,MS22524,MS25294 dgv2770n71 16 32439163 32449148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906195,nsv906213 M 6533 0 3 "" MS10897,MS22653,MS23713 esv6649 16 32439680 32441222 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29090 S 1 0 1 "" SJK nsv906260 16 32441070 32489297 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581039,nssv1594730,nssv1591834,nssv1558100 M 6533 2 2 "" IS35492,IS39046,IS40004,MS23110 nsv906261 16 32441070 32491097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584938 S 6533 0 1 "" IS37207 dgv2771n71 16 32443172 32468721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906267,nsv906272,nsv906274,nsv906288,nsv906290,nsv906287,nsv906281,nsv906273,nsv906307,nsv906264,nsv906266 M 6533 0 14 "" IS32770,IS34405,IS34508,IS35010,IS35486,IS35940,IS39999,IS40104,IS40429,IS40678,IS40855,IS40898,MS17485,SP57875 dgv2772n71 16 32443949 32482392 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906294,nsv906296,nsv906270 M 6533 4 0 "" IS30330,IS39254,SP51449,SP57575 nsv906271 16 32445732 32460319 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596302,nssv1521429 M 6533 1 1 "" IS40490,SP52371 dgv2773n71 16 32445732 32476619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906331,nsv906317,nsv906292,nsv906283,nsv906291,nsv906293,nsv906275 M 6533 0 7 "" IS30178,IS35225,IS38056,IS38268,IS38352,IS41933,MS16125 nsv906280 16 32446638 32463275 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567824,nssv1582184,nssv1536877,nssv1581576 M 6533 4 0 "" IS31154,IS35633,IS35824,MS12991 essv8599 16 32446676 32576815 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv833201 16 32446701 32653573 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452581,nssv1452582,nssv1452580,nssv1452579,nssv1452583,nssv1452587,nssv1452586,nssv1452585,nssv1452584,nssv1452588 M 95 8 2 LOC653550,TP53TG3,TP53TG3B dgv2774n71 16 32447083 32460319 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906285,nsv906301 M 6533 0 2 "" IS32817,IS39785 dgv2775n71 16 32447083 32467276 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906325,nsv906303,nsv906324,nsv906314,nsv906327,nsv906286 M 6533 32 15 "" IS30081,IS31117,IS31147,IS31487,IS31747,IS32766,IS32819,IS33044,IS33262,IS34083,IS34477,IS34749,IS34791,IS34811,IS34872,IS35776,IS36825,IS37068,IS37404,IS38047,IS38210,IS38515,IS38604,IS40302,IS40342,IS40872,IS41008,IS41042,IS41730,MS10950,MS15453,MS15922,MS15984,MS17120,MS17723,MS18873,MS23212,SP50094,SP51175,SP52243,SP52274,SP52351,SP52379,SP53550,SP56956,SP58556,SP81326 dgv2776n71 16 32447083 32468721 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906328,nsv906326,nsv906316,nsv906315,nsv906305,nsv906289 M 6533 8 0 "" IS30553,IS31821,IS33258,IS35372,MS16016,MS19858,MS20771,MS21649 dgv2777n71 16 32447083 32481955 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906332,nsv906295,nsv906339 M 6533 0 3 "" IS32810,IS38269,SP57950 dgv2778n71 16 32449148 32460854 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906300,nsv906302,nsv906313 M 6533 3 0 "" IS35240,IS37156,SP56246 dgv2779n71 16 32449148 32469040 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906329,nsv906306,nsv906304 M 6533 0 4 "" IS30222,IS37850,IS38208,MS17872 nsv906308 16 32449148 32471758 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566573,nssv1590401 M 6533 1 1 "" IS30781,IS38505 dgv2780n71 16 32449148 32472313 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906309,nsv906330 M 6533 5 0 "" IS31142,IS31187,IS31558,IS38162,MS24971 dgv2781n71 16 32449148 32515939 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906320,nsv906311,nsv906344,nsv906310 M 6533 4 0 "" MS19093,SP54350,SP58557,SP80970 dgv2782n71 16 32450736 32511911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906318,nsv906341,nsv906343,nsv906351,nsv906319,nsv906338 M 6533 0 9 "" IS35447,MS10121,MS12281,MS17363,MS18325,MS22858,SP51104,SP54833,SP57347 nsv906322 16 32451733 32460319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574771,nssv1522798,nssv1578190,nssv1541856 M 6533 0 4 "" IS33627,IS34709,MS15514,SP53441 nsv906323 16 32451733 32460854 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519716,nssv1539375,nssv1595514,nssv1531633,nssv1593040,nssv1584210 M 6533 4 2 "" IS36901,IS39341,IS40241,MS10574,MS14313,SP50177 dgv2783n71 16 32451733 32511911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906334,nsv906346 M 6533 3 4 "" IS40023,MS10875,MS15905,MS18053,MS21180,MS24995,SP55353 dgv2784n71 16 32454287 32463275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906337,nsv906336 M 6533 0 2 "" IS37456,MS11552 dgv2785n71 16 32454912 32492503 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906340,nsv906349 M 6533 0 2 "" MS10682,MS15479 dgv2786n71 16 32454912 32590125 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906377,nsv906342,nsv906476,nsv906480,nsv906472,nsv906446,nsv906455,nsv906385,nsv906359,nsv906484,nsv906459,nsv906391,nsv906390,nsv906424,nsv906356,nsv906422,nsv906394,nsv906363 M 6533 21 0 "" IS41176,MS10745,MS14630,MS15541,MS19023,MS20236,MS24662,MS25181,SP50555,SP50592,SP50612,SP51260,SP52428,SP54393,SP54587,SP54952,SP56356,SP56957,SP57640,SP81416,SP81534 nsv469892 16 32456419 32617025 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649913 M 265 19 7 Samples from several populations that are part of the HapMap project. LOC653550,TP53TG3,TP53TG3B nsv471692 16 32456420 32617025 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551205,nssv551201,nssv551200,nssv551202,nssv551212,nssv551220,nssv551207,nssv551204,nssv551209,nssv551208,nssv551197,nssv551203,nssv551218,nssv551210,nssv551217,nssv551199,nssv551215,nssv551213,nssv551214,nssv551216,nssv551206,nssv551219,nssv551198,nssv551211 M 48 15 9 LOC653550,TP53TG3,TP53TG3B JK1051,JK1058,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10493,NA10495,NA10969,NA10970,NA11323,NA15725,NA15730,NA15732,NA16688,NA17014,NA17015,NA17016,NA17017,NA17052,NA17058 nsv906345 16 32458619 32475100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559731 S 6533 0 1 "" MS24103 dgv2787n71 16 32459884 32478340 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906347,nsv906348 M 6533 2 0 "" MS10722,MS15601 dgv2788n71 16 32460991 32505195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906416,nsv906435,nsv906368,nsv906369,nsv906434,nsv906350,nsv906443,nsv906382,nsv906413,nsv906383,nsv906426,nsv906386,nsv906436,nsv906415,nsv906396,nsv906411,nsv906414,nsv906375 M 6533 0 36 "" IS37157,IS40415,MS10867,MS10872,MS10897,MS14334,MS14488,MS14953,MS15198,MS15347,MS15973,MS16108,MS16467,MS17112,MS18211,MS19177,MS19638,MS21522,MS24032,MS24719,MS24864,MS25580,SP51170,SP52390,SP52587,SP52689,SP52830,SP54543,SP54808,SP56448,SP56549,SP56818,SP56841,SP57058,SP58259,SP81060 dgv2789n71 16 32463275 32478340 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906352,nsv906364,nsv906361 M 6533 0 3 "" MS12577,SP54048,SP55489 dgv2790n71 16 32463275 32511911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906358,nsv906448,nsv906353 M 6533 4 0 "" MS14284,MS24839,SP53508,SP57741 dgv2791n71 16 32463275 32530051 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906471,nsv906438,nsv906454,nsv906355 M 6533 4 0 "" MS11333,MS14804,SP52165,SP52376 dgv2792n71 16 32463275 32530051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906354,nsv906466,nsv906398,nsv906445 M 6533 0 5 "" MS11384,MS21242,MS23117,SP51480,SP52082 dgv2793n71 16 32465116 32477792 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906379,nsv906357 M 6533 2 0 "" MS11451,MS17794 dgv2794n71 16 32465567 32511911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906393,nsv906427,nsv906444,nsv906376,nsv906387,nsv906458,nsv906365,nsv906360,nsv906397 M 6533 0 23 "" IS30838,IS31081,IS36383,IS38123,IS39788,MS11049,MS14388,MS15342,MS21315,MS23227,SP50540,SP50694,SP50700,SP51056,SP52025,SP52648,SP53262,SP53329,SP53441,SP54913,SP55165,SP56349,SP58316 dgv2795n71 16 32465671 32511911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906370,nsv906362,nsv906389,nsv906453,nsv906384,nsv906465,nsv906437,nsv906417,nsv906475,nsv906470 M 6533 47 147 "" IS30210,IS31649,IS31693,IS32763,IS33487,IS34473,IS34531,IS34750,IS36011,IS37059,IS37632,IS37990,IS38202,IS38455,IS38549,IS39000,IS39248,IS39888,IS40073,IS40494,IS40930,MS10168,MS10183,MS10590,MS10686,MS10784,MS10818,MS10942,MS10968,MS11057,MS11312,MS11556,MS12005,MS12045,MS12497,MS12520,MS12863,MS12943,MS12972,MS13045,MS13160,MS13219,MS13294,MS13317,MS13759,MS14295,MS14343,MS14500,MS14502,MS14513,MS14818,MS14923,MS14978,MS15175,MS15429,MS15514,MS15777,MS16060,MS16308,MS16385,MS16797,MS16898,MS18748,MS18815,MS18824,MS19062,MS19576,MS19705,MS20008,MS20009,MS20204,MS20588,MS20784,MS20785,MS20878,MS21130,MS21628,MS21840,MS22154,MS22306,MS22999,MS23077,MS23628,MS23713,MS23868,MS24483,MS24600,MS24678,MS24790,MS24798,MS24872,MS24951,MS25285,MS25553,MS25675,MS26050,SP50035,SP50177,SP50519,SP50569,SP50646,SP50746,SP50791,SP50872,SP50904,SP51007,SP51079,SP51244,SP51256,SP51296,SP51377,SP51493,SP52039,SP52081,SP52197,SP52320,SP52328,SP52332,SP52350,SP52399,SP52416,SP52427,SP52497,SP52680,SP52872,SP53023,SP53144,SP53250,SP53252,SP53289,SP53344,SP53412,SP53493,SP53503,SP53705,SP53728,SP53972,SP54190,SP54191,SP54268,SP54275,SP54407,SP54625,SP54753,SP54838,SP54884,SP54901,SP54958,SP54967,SP54968,SP55003,SP55013,SP55093,SP55179,SP55189,SP55195,SP55302,SP55417,SP55787,SP56029,SP56238,SP56339,SP56377,SP56381,SP56400,SP56542,SP56708,SP56894,SP56906,SP56983,SP57208,SP57250,SP57254,SP57269,SP57665,SP57875,SP57886,SP58026,SP58068,SP80943,SP81040,SP81061,SP81077,SP81083,SP81095,SP81106,SP81158,SP81197,SP81266,SP81363,SP81412,SP81438,SP81475,SP81498 dgv2796n71 16 32466460 32482392 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906366,nsv906425,nsv906380,nsv906405 M 6533 0 6 "" MS11137,MS16677,MS20152,SP50742,SP55436,SP55800 dgv2797n71 16 32466460 32492503 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906374,nsv906388,nsv906432,nsv906367,nsv906407 M 6533 0 7 "" MS21563,MS21973,SP54627,SP56887,SP56927,SP56971,SP81541 dgv2798n71 16 32466460 32556470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906372,nsv906378,nsv906460,nsv906477,nsv906449 M 6533 10 0 "" SP50598,SP50637,SP54593,SP54750,SP55106,SP55820,SP56104,SP56330,SP56789,SP56960 dgv2799n71 16 32466460 32579320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906421,nsv906441,nsv906478,nsv906371,nsv906509,nsv906507 M 6533 0 8 "" IS38525,MS12823,MS21706,MS21814,SP50046,SP52101,SP53859,SP58155 nsv513452 16 32466562 32466874 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625854 S 1 1 0 "" 1 nsv906373 16 32467276 32475644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506190 S 6533 0 1 "" SP54058 dgv2800n71 16 32467415 32489297 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906381,nsv906431 M 6533 2 0 "" MS11276,SP57642 dgv2801n71 16 32467634 33268779 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906392,nsv906516 M 6533 2 0 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B IS39243,SP55763 dgv2802n71 16 32469040 32498422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906433,nsv906395 M 6533 3 0 "" MS14384,SP52523,SP81339 dgv2803n71 16 32469358 32476619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906399,nsv906400,nsv906402 M 6533 0 5 "" MS14287,SP50171,SP53131,SP55537,SP81010 dgv2804n71 16 32469358 32477792 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906428,nsv906403,nsv906401 M 6533 8 12 "" MS11157,MS11632,MS14562,MS15317,MS16752,MS18159,MS22499,MS23301,MS25813,SP50554,SP50580,SP51243,SP53317,SP54853,SP55064,SP56197,SP56773,SP58443,SP80945,SP81009 nsv906404 16 32469358 32481352 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539813,nssv1520597,nssv1529736,nssv1523133,nssv1543314,nssv1531439,nssv1528715,nssv1561353,nssv1540114,nssv1563039,nssv1520811,nssv1536705,nssv1520682,nssv1530214,nssv1550990,nssv1520639,nssv1598419,nssv1543962,nssv1528495,nssv1520477,nssv1539415 M 6533 3 18 "" IS40849,MS10119,MS10249,MS10444,MS12917,MS14324,MS14512,MS14696,MS16137,MS16188,MS18715,MS24940,MS25833,SP51087,SP51172,SP51188,SP51218,SP51259,SP53700,SP81254,SP81352 dgv2805n71 16 32469358 32492503 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906406,nsv906408 M 6533 5 5 "" MS15767,MS20247,MS24280,MS24550,SP51067,SP53802,SP54119,SP55075,SP56633,SP57593 dgv2806n71 16 32469358 32503589 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906410,nsv906412,nsv906409 M 6533 3 5 "" IS39365,MS13408,MS14724,MS21891,MS23885,SP52464,SP53368,SP54461 dgv2807n71 16 32469358 32530051 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906418,nsv906492 M 6533 3 3 "" MS11487,MS13491,MS20520,SP56418,SP58141,SP81152 dgv2808n71 16 32469358 32579320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906420,nsv906439,nsv906419,nsv906468,nsv906440,nsv906493,nsv906469 M 6533 34 18 "" MS10574,MS12475,MS13157,MS13288,MS14210,MS15317,MS15637,MS15808,MS16343,MS16494,MS20618,MS24266,MS24390,MS25696,SP50059,SP50102,SP50530,SP50723,SP51483,SP52027,SP52139,SP52359,SP52700,SP52701,SP52717,SP53448,SP53471,SP53528,SP53821,SP54164,SP54225,SP54577,SP54979,SP55019,SP55034,SP55126,SP55290,SP55339,SP55381,SP55596,SP55690,SP55717,SP55851,SP56114,SP56533,SP57137,SP57328,SP57945,SP81088,SP81146,SP81432,SP81501 nsv906423 16 32469358 32660911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541572 S 6533 0 1 LOC653550,TP53TG3,TP53TG3B MS15375 dgv2809n71 16 32470417 32481352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906442,nsv906429,nsv906451,nsv906456,nsv906447 M 6533 0 9 "" IS40072,MS11750,MS16211,MS19698,SP50776,SP52566,SP54023,SP54049,SP81276 nsv906430 16 32470417 32482392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560797,nssv1552628 M 6533 2 0 "" MS19553,MS24705 nsv906450 16 32472584 32478340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555044 S 6533 0 1 "" MS21178 dgv2810n71 16 32472584 32489297 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906452,nsv906463,nsv906457 M 6533 3 4 "" IS36879,MS14385,MS19420,MS22268,MS23650,SP52351,SP57105 nsv906461 16 32474045 32481955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526564 S 6533 1 0 "" SP57659 nsv906462 16 32474045 32482392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539519,nssv1540127,nssv1525405 M 6533 0 3 "" MS14354,MS14702,SP56543 nsv906464 16 32474045 32494598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512288 S 6533 0 1 "" SP55401 dgv2811n71 16 32474045 32545759 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906467,nsv906479 M 6533 0 2 "" SP50058,SP54722 dgv2812n71 16 32475644 32498422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906473,nsv906474 M 6533 2 0 "" MS10983,SP52552 dgv2813n71 16 32478340 32504031 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906481,nsv906483 M 6533 2 0 "" MS15008,MS15610 nsv906482 16 32478340 32511911 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557904,nssv1522538 M 6533 2 0 "" MS22970,SP53240 dgv470n67 16 32481109 32561878 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827621,nsv827619,nsv827622 M 31 10 0 "" AK18,AK6,NA18537,NA18592,NA18947,NA18949,NA18951,NA18973,NA18997,NA18999 nsv906486 16 32482392 32502614 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589528,nssv1542038 M 6533 1 1 "" IS38379,MS15601 dgv2814n71 16 32482392 32505195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906489,nsv906485,nsv906488,nsv906490,nsv906487 M 6533 0 8 "" IS37866,IS38367,IS39388,MS10444,MS10999,MS19649,SP50171,SP58462 nsv906491 16 32482392 32511911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534816,nssv1558783,nssv1523655,nssv1582163,nssv1577593,nssv1527991,nssv1513576,nssv1533409,nssv1519803,nssv1520649,nssv1564625,nssv1545989,nssv1523491,nssv1535319,nssv1543315,nssv1579662,nssv1526884,nssv1542794,nssv1536706,nssv1555830,nssv1525151,nssv1545922,nssv1560572,nssv1599742,nssv1592034,nssv1562010,nssv1523564,nssv1532134,nssv1515771,nssv1505722,nssv1523991,nssv1600380,nssv1534907,nssv1589546,nssv1531737,nssv1543963,nssv1546394,nssv1523119,nssv1535356,nssv1524953,nssv1539416,nssv1526449,nssv1526463,nssv1513537,nssv1559357,nssv1538889,nssv1523134,nssv1531160 M 6533 18 30 "" IS30267,IS34491,IS35146,IS35802,IS38380,IS39181,IS41782,IS41875,MS10352,MS10615,MS10722,MS11159,MS11730,MS11791,MS12149,MS12170,MS12917,MS13800,MS14324,MS15885,MS16137,MS16188,MS17043,MS17091,MS17204,MS21637,MS23541,MS23886,MS24563,MS25308,SP50554,SP51197,SP53685,SP53700,SP53883,SP54048,SP54090,SP54122,SP54326,SP55405,SP55537,SP55795,SP55800,SP56267,SP57580,SP57585,SP57950,SP81099 dgv2815n71 16 32489319 32511911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906495,nsv906501,nsv906494,nsv906506,nsv906505 M 6533 19 14 "" IS33087,IS34066,IS34981,IS35245,IS35385,IS37348,IS37892,IS38362,IS38448,IS38582,IS38621,IS40825,IS41857,IS41858,MS11361,MS14209,MS15078,MS16095,MS16211,MS17400,MS17794,MS18873,MS19553,MS20247,MS20543,MS21071,MS26030,SP51241,SP53317,SP54023,SP54197,SP55489,SP81352 dgv2816n71 16 32489487 32530051 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906502,nsv906496 M 6533 3 0 "" IS32805,MS10674,MS12758 dgv2817n71 16 32489487 32579320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906497,nsv906503,nsv906511 M 6533 6 0 "" IS35270,IS37752,MS11558,MS15771,SP52568,SP55321 dgv2818n71 16 32490487 32504410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906498,nsv906499 M 6533 0 2 "" MS10249,MS14696 nsv906500 16 32490487 32505195 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563040,nssv1524583 M 6533 1 1 "" MS25833,SP55108 dgv2819n71 16 32490487 32556470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906504,nsv906513 M 6533 0 2 "" SP56154,SP57779 dgv2820n71 16 32492503 32556470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906514,nsv906508 M 6533 2 0 "" SP50032,SP50119 dgv2821n71 16 32495078 32511911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906510,nsv906512 M 6533 5 0 "" IS35582,IS39057,MS11097,MS25950,SP53937 esv2450639 16 32507519 32510284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300943 S 1 0 1 "" NA18507 nsv827623 16 32534986 32561878 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423752 S 31 1 0 "" NA18969 nsv471500 16 32561838 33432843 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547841,nssv547842,nssv547843 M 3 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B esv1011117 16 32562029 32615849 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586561 S 3 1 0 LOC653550,TP53TG3,TP53TG3B HuRef dgv869e1 16 32577185 33295075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16419,essv2786,essv14617,essv12361,essv10098,essv7072,essv5927,essv21010,essv24842,essv4632,essv7526,essv23569,essv1131,essv6693 M 271 0 0 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B NA06991,NA06993,NA07000,NA18537,NA18545,NA18550,NA18594,NA18608,NA18964,NA18987,NA19093,NA19130,NA19138,NA19139 essv7855 16 32612180 32902091 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SLC6A10P NA18558 dgv870e1 16 32612180 33715261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv309,essv19699,essv913,essv8211,essv8951,essv20026,essv2062,essv23363,essv13048,essv13701,essv13033,essv17881,essv10945,essv399 M 271 0 0 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B NA07048,NA12003,NA12264,NA12750,NA18852,NA18859,NA18949,NA18971,NA18978,NA19000,NA19116,NA19119,NA19200,NA19209 nsv469746 16 32646443 32828220 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649767 M 265 9 0 Samples from several populations that are part of the HapMap project. SLC6A10P nsv906515 16 32676346 32929733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553901 S 6533 1 0 SLC6A10P MS20361 dgv871e1 16 32722382 32902091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12416,essv56,essv16900,essv484,essv16931,essv21458,essv14070,essv7202,essv4050,essv13198,essv24529,essv21810,essv21150,essv19095,essv15645,essv15763,essv18641,essv11217,essv16149,essv17558,essv11945,essv23409,essv21275 M 271 0 0 SLC6A10P NA07055,NA10854,NA10855,NA11839,NA12234,NA12717,NA12762,NA12802,NA12815,NA18502,NA18547,NA18635,NA18861,NA18912,NA18952,NA18991,NA19100,NA19102,NA19131,NA19144,NA19204,NA19205,NA19238 dgv872e1 16 32722382 33581409 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2645,essv19636,essv21697,essv17789,essv239 M 271 0 0 LOC390705,LOC653550,SLC6A10P,TP53TG3,TP53TG3B NA10831,NA12155,NA12248,NA18948,NA18967 esv7154 16 32725139 32726007 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29595 S 1 0 1 "" SJK nsv827624 16 32745412 32809753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439315,nssv1427099,nssv1431678,nssv1436285,nssv1438476 M 31 5 0 SLC6A10P AK18,AK6,NA18592,NA18951,NA18973 esv23410 16 32755320 32946521 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14407,esv11414,esv10806 M 451 24 0 SLC6A10P NA11931,NA11995,NA12004,NA12239,NA12414,NA12749,NA12776,NA12878,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv442395 16 32806748 32823606 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514802 16 32807756 32816056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627163 S 1414 0 0 "" nsv7282 16 32906698 33539015 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9315 S 9 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA18517 nsv906517 16 32913692 33019894 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534268 S 6533 1 0 "" MS11497 dgv2822n71 16 32959848 33173130 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906518,nsv906519 M 6533 2 0 LOC653550,TP53TG3,TP53TG3B MS11220,MS25394 dgv873e1 16 32985975 33187759 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1267,essv22602,essv10066,essv8290,essv20287,essv2339,essv3094,essv3988 M 271 0 0 LOC653550,TP53TG3,TP53TG3B NA07348,NA12144,NA18940,NA18969,NA18970,NA18995,NA19099,NA19103 dgv874e1 16 32985975 33295075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1846,essv4911,essv1791,essv4701,essv6006,essv6880,essv5107,essv3362,essv6196,essv20144,essv4764,essv22429,essv11777 M 271 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA07345,NA10861,NA18504,NA18532,NA18561,NA18571,NA18577,NA18605,NA18620,NA18622,NA18945,NA18976,NA18997 dgv875e1 16 32985975 33581409 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7018,essv24238,essv4197,essv4445,essv5807,essv24960,essv20622,essv18929,essv762 M 271 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA07056,NA10839,NA10856,NA12005,NA18526,NA18552,NA18566,NA18612,NA18956 dgv2823n71 16 32989819 33194468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906523,nsv906522,nsv906521,nsv906520 M 6533 0 7 LOC653550,TP53TG3,TP53TG3B IS32532,IS39420,IS41009,IS41603,MS15375,SP55026,SP56794 nsv833202 16 33001317 33207033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452599,nssv1452597,nssv1452600,nssv1452598,nssv1452590,nssv1452595,nssv1452596,nssv1452589,nssv1452594,nssv1452591,nssv1452592,nssv1452593 M 95 12 0 LOC390705,LOC653550,TP53TG3,TP53TG3B esv24815 16 33004830 33725484 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16317,esv10966,esv9755,esv10058,esv14906,esv10695,esv19860,esv16670,esv20476,esv11581,esv14625,esv14224,esv19255,esv20156,esv11927,esv20560,esv10866,esv12762,esv19426,esv16299,esv14622,esv15707,esv18664,esv11588 M 451 32 7 LOC390705,LOC653550,TP53TG3,TP53TG3B NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 essv5744 16 33017963 33156694 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC653550,TP53TG3,TP53TG3B NA18593 dgv876e1 16 33017963 33715261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11226,essv22159,essv10997,essv14107,essv23883,essv7857,essv9471,essv21977,essv3825,essv16982,essv418 M 271 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA10857,NA11995,NA12814,NA18558,NA18861,NA18943,NA18952,NA19143,NA19144,NA19204,NA19208 dgv2824n71 16 33060960 33565769 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906526,nsv906529,nsv906524 M 6533 4 0 LOC390705,LOC653550,TP53TG3,TP53TG3B IS34610,MS18620,SP55321,SP58325 dgv2825n71 16 33070317 33220042 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906525,nsv906528 M 6533 0 2 LOC390705,LOC653550,TP53TG3,TP53TG3B MS15682,SP56880 nsv906527 16 33090901 33214305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521708 S 6533 1 0 LOC390705,LOC653550,TP53TG3,TP53TG3B SP52552 esv992951 16 33092514 33201197 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586211 S 3 1 0 LOC653550,TP53TG3,TP53TG3B HuRef dgv877e1 16 33095876 33295075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10486,essv18085,essv23863,essv15629 M 271 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA07022,NA12145,NA18515,NA18912 nsv471390 16 33112481 33115680 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548146,nssv548143,nssv548144 M 3 LOC653550,TP53TG3,TP53TG3B nsv482194 16 33112481 33115680 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558555 S 1 1 0 LOC653550,TP53TG3,TP53TG3B KB1 nsv509614 16 33133840 33133840 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619686 S 4 1 0 "" NA10860 nsv510684 16 33133840 33211488 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622707 S 4 0 1 LOC390705,LOC653550,TP53TG3,TP53TG3B NA18994 nsv511048 16 33133840 33211488 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622417,nssv621637 M 4 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA10860,NA15510 nsv1790 16 33146315 33228951 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6670 S 9 0 1 LOC390705,LOC653550,TP53TG3,TP53TG3B NA12156 dgv878e1 16 33147013 33235516 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18196,essv2160,essv10044,essv7165,essv6971,essv12318,essv22980,essv20266,essv4402,essv5714,essv4617,essv17537,essv18280,essv3110,essv4021,essv22535 M 271 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA07348,NA07357,NA10846,NA12057,NA12144,NA12762,NA18547,NA18573,NA18582,NA18593,NA18594,NA18960,NA18969,NA18970,NA19099,NA19138 dgv879e1 16 33147013 33456507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18710,essv21193,essv3042,essv4163 M 271 0 0 LOC390705,LOC653550,TP53TG3,TP53TG3B NA11830,NA12874,NA18555,NA18981 dgv2826n71 16 33194468 33418030 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906530,nsv906536 M 6533 4 0 LOC390705 IS40098,MS12630,MS24662,SP55971 dgv2827n71 16 33194468 33565769 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906540,nsv906532,nsv906531 M 6533 4 6 LOC390705 IS40494,MS15508,SP51145,SP51432,SP51480,SP54407,SP54857,SP56032,SP56834,SP56950 dgv2828n71 16 33194468 33661069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906542,nsv906538,nsv906533 M 6533 0 3 LOC390705 IS40883,MS25112,SP52688 dgv2829n71 16 33194468 33703188 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906534,nsv906544 M 6533 4 2 LOC390705 IS41176,MS14437,MS16832,MS21457,SP51112,SP80994 nsv442721 16 33208395 33618281 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514803 16 33209592 33538228 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627165 S 1414 0 0 "" nsv509615 16 33211488 33211488 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619687 S 4 1 0 "" NA10860 dgv2830n71 16 33229608 33851769 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906563,nsv906567,nsv906535,nsv906566,nsv906553,nsv906562,nsv906561 M 6533 7 0 "" IS30564,IS30771,IS32615,IS33044,IS38065,MS11032,SP54798 dgv2831n71 16 33240087 33661069 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906547,nsv906541,nsv906537,nsv906552,nsv906558,nsv906560,nsv906559,nsv906551 M 6533 12 0 "" IS34648,IS35771,IS39923,IS41319,IS41992,MS25304,SP50117,SP51109,SP51118,SP51302,SP51477,SP52270 dgv2832n71 16 33268779 33479530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906539,nsv906546,nsv906554 M 6533 0 3 "" SP50058,SP52081,SP80928 dgv2833n71 16 33268779 33735771 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906543,nsv906565,nsv906564 M 6533 4 0 "" IS34599,IS35717,MS12827,SP50604 nsv906545 16 33268779 33829786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499838 S 6533 0 1 "" SP50519 nsv827625 16 33274119 33320729 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429974 S 31 1 0 "" NA18968 nsv827626 16 33274119 33561851 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427100,nssv1439316,nssv1422989,nssv1423863,nssv1436297,nssv1431679,nssv1437795,nssv1438477 M 31 8 0 "" AK18,AK6,NA18552,NA18592,NA18949,NA18951,NA18969,NA18973 esv1006573 16 33278744 33370408 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586829 S 3 0 1 "" HuRef nsv436217 16 33280588 33287970 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465557 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2510232 16 33280818 33287131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189370 S 1 0 1 "" NA18507 esv8976 16 33281549 33286933 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31417 S 1 0 1 "" SJK dgv880e1 16 33282424 33456507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20277,essv536,essv24088,essv16727,essv4991,essv22479 M 271 0 0 "" NA10859,NA11882,NA12144,NA18637,NA18998,NA19142 dgv881e1 16 33282424 33581409 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10448,essv1037,essv22580,essv19510,essv2318,essv16544,essv22393,essv12663,essv4356,essv172,essv3120 M 271 0 0 "" NA07348,NA12864,NA12875,NA18500,NA18515,NA18573,NA18940,NA18968,NA18969,NA19005,NA19210 dgv882e1 16 33282424 33715261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18627,essv21248,essv23564,essv21842,essv10135,essv1344,essv14627,essv12412,essv12546,essv8435,essv5923,essv7191,essv6637,essv18372,essv2773,essv10585,essv9007,essv11920,essv10780,essv16147,essv15428,essv4092,essv20955,essv7696,essv24507,essv16846,essv1456,essv11899,essv21161,essv17490,essv15683,essv12717,essv15812,essv8594,essv21420,essv23415,essv13175,essv10332 M 271 0 0 "" NA06993,NA10854,NA10855,NA11839,NA12234,NA12249,NA12717,NA12762,NA12801,NA12802,NA12815,NA18502,NA18506,NA18516,NA18523,NA18547,NA18550,NA18621,NA18633,NA18635,NA18912,NA18914,NA18944,NA18987,NA19007,NA19093,NA19098,NA19100,NA19102,NA19130,NA19132,NA19203,NA19205,NA19221,NA19223,NA19238,NA19239,NA19240 essv9987 16 33282424 34224164 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LINC00273 NA19099 nsv833205 16 33282450 33452721 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452602,nssv1452601,nssv1452605,nssv1452604,nssv1452603 M 95 4 1 "" dgv2834n71 16 33282771 33526153 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906556,nsv906548,nsv906550 M 6533 6 0 "" SP53473,SP53734,SP54535,SP55548,SP57640,SP58465 nsv906549 16 33293867 33444831 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503578 S 6533 1 0 "" SP52077 esv9151 16 33314189 33314283 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31592 S 1 1 0 "" SJK nsv906555 16 33330533 33491439 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518549,nssv1500397 M 6533 1 1 "" SP50137,SP57672 nsv906557 16 33330533 33565769 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503074,nssv1512643 M 6533 1 1 "" SP51483,SP55567 nsv510417 16 33331252 33337252 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624176 S 4 0 1 "" NA18994 nsv1791 16 33333744 33347220 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1305 S 9 1 0 "" NA19240 nsv435672 16 33334452 33340871 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465558 S 2 0 1 "" NA15510 esv2751556 16 33371600 34997000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988474,essv6981963,essv6981964,essv6981965,essv6981966 M 771 1 0 FLJ26245,LINC00273,LOC100130700,LOC146481,LOC283914,UBE2MP1 BEC_51 dgv2835n71 16 33372834 33491439 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906570,nsv906568 M 6533 10 2 "" SP50723,SP50857,SP51144,SP52255,SP52719,SP54002,SP55345,SP56029,SP56789,SP57545,SP58557,SP81039 dgv2836n71 16 33372834 33565769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906569,nsv906578 M 6533 0 2 "" SP52025,SP53041 dgv2837n71 16 33382661 33565769 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906573,nsv906572,nsv906571,nsv906574 M 6533 7 7 "" SP51244,SP52147,SP53448,SP53528,SP53601,SP53859,SP54350,SP55642,SP55650,SP56012,SP56734,SP56795,SP57410,SP81010 nsv469827 16 33390426 33557453 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649848 M 265 5 63 Samples from several populations that are part of the HapMap project. "" nsv471694 16 33390427 33557453 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550820,nssv550822,nssv550816,nssv550813,nssv550821,nssv550819,nssv550815,nssv550814,nssv550812,nssv550817,nssv550818 M 48 8 3 "" JK1058,NA10493,NA10496,NA10967,NA10969,NA15726,NA15728,NA17014,NA17015,NA17020,P86GA dgv2838n71 16 33391129 33535128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906575,nsv906576,nsv906577 M 6533 3 0 "" SP51058,SP55195,SP55355 esv2341540 16 33393273 33393931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828404 S 1 0 1 "" NA18507 esv990190 16 33393448 33393762 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572210 S 3 0 1 "" HuRef nsv833206 16 33396660 33579116 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452606,nssv1452607,nssv1452608,nssv1452609,nssv1452613,nssv1452611,nssv1452610,nssv1452612 M 95 7 1 "" dgv2839n71 16 33418030 33526153 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906580,nsv906587 M 6533 2 3 "" SP54625,SP55970,SP55984,SP56890,SP57193 dgv2840n71 16 33418030 33535128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906588,nsv906583,nsv906579 M 6533 4 0 "" SP50085,SP50753,SP54884,SP55597 dgv2841n71 16 33418030 33565769 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906581,nsv906589,nsv906584 M 6533 4 3 "" SP51226,SP51339,SP51473,SP54461,SP54517,SP58114,SP80936 dgv2842n71 16 33418030 33661069 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906586,nsv906592,nsv906582 M 6533 3 0 "" SP50129,SP53036,SP54620 dgv883e1 16 33433122 33715261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13794,essv77,essv21056,essv12809,essv15775,essv13586,essv16476,essv6776,essv2621,essv14199,essv10850,essv24921,essv13562,essv18274,essv21338,essv3713 M 271 0 0 "" NA06991,NA06994,NA10846,NA12878,NA18562,NA18871,NA18947,NA18990,NA18991,NA19120,NA19127,NA19131,NA19139,NA19140,NA19153,NA19160 dgv2843n71 16 33434045 33606292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906595,nsv906590,nsv906591,nsv906585 M 6533 7 0 "" SP50017,SP51061,SP51167,SP52055,SP52868,SP56116,SP80930 esv6121 16 33443693 33446031 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28562 S 1 0 1 "" SJK esv6199 16 33451245 33452958 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28640 S 1 0 1 "" SJK esv1002145 16 33452664 33454540 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569303 S 3 0 1 "" HuRef esv7717 16 33452700 33454617 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30158 S 1 0 1 "" SJK nsv833207 16 33456462 33473162 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452614 S 95 0 1 "" nsv433445 16 33463813 33867424 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463326 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv906593 16 33464522 33565769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516372 S 6533 0 1 "" SP56816 nsv507814 16 33465178 33471178 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623211 S 4 1 0 "" NA18994 esv2270564 16 33466527 33466924 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867568 S 1 0 1 "" NA18507 esv1006414 16 33466703 33466798 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580751 S 3 0 1 "" HuRef nsv906594 16 33469353 33565769 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502376,nssv1514217 M 6533 1 1 "" SP50904,SP55971 nsv906596 16 33474542 33565769 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499527 S 6533 1 0 "" SP50118 nsv906597 16 33479530 33735771 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545343 S 6533 1 0 "" MS16724 esv999468 16 33498972 33523462 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586769 S 3 0 1 "" HuRef nsv827627 16 33501707 33517567 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423792 S 31 0 1 "" NA18999 esv2247032 16 33512311 33512872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877132 S 1 0 1 "" NA18507 esv2208287 16 33522609 33523062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948731 S 1 0 1 "" NA18507 nsv827628 16 33527025 33536999 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423794 S 31 0 1 "" NA18999 essv23235 16 33544442 33715261 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07029 dgv2844n71 16 33612986 33829786 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906599,nsv906598 M 6533 3 0 "" SP51260,SP52719,SP55834 nsv1792 16 33661561 33673206 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5602 S 9 0 1 "" NA19129 nsv498863 16 33662520 33668595 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585724 S 9 0 1 "" dgv2845n71 16 33676809 33829786 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906601,nsv906602 M 6533 19 4 "" IS31286,IS32775,IS32858,IS33745,IS34610,IS36552,IS37156,IS37546,IS39205,MS10699,MS12202,MS12401,MS15915,MS17224,MS19634,MS22104,MS23191,MS24162,SP51436,SP55312,SP58408,SP81264,SP81276 dgv2846n71 16 33676809 33839485 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906600,nsv906611 M 6533 3 0 "" IS33575,MS13490,SP56518 dgv2847n71 16 33676809 34034376 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906603,nsv906622 M 6533 2 0 LINC00273 IS41950,MS11332 dgv471n67 16 33680576 33767291 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827629,nsv827630 M 31 5 0 "" AK18,AK6,NA18592,NA18969,NA18973 dgv2848n71 16 33716067 33813567 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906605,nsv906604,nsv906606 M 6533 0 3 "" MS25891,SP53687,SP56116 dgv2849n71 16 33716067 33829786 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906610,nsv906608,nsv906607,nsv906609 M 6533 11 14 "" IS35487,IS35533,IS35582,IS38168,IS38425,MS10797,MS11032,MS13430,MS24918,SP50783,SP50798,SP51450,SP52432,SP53041,SP53490,SP54579,SP54587,SP55279,SP55747,SP56136,SP56707,SP56766,SP56926,SP57197,SP57401 dgv2850n71 16 33735771 33829786 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906613,nsv906621,nsv906614,nsv906620,nsv906618,nsv906615 M 6533 77 42 "" IS30081,IS30193,IS30197,IS30206,IS30389,IS30477,IS30493,IS30610,IS31117,IS31147,IS31487,IS32888,IS32918,IS32999,IS33060,IS33162,IS33689,IS34262,IS34807,IS35007,IS35102,IS35372,IS35447,IS35461,IS35765,IS36364,IS36825,IS37068,IS37157,IS37404,IS37577,IS37874,IS38047,IS38208,IS38262,IS38338,IS38344,IS38388,IS38403,IS38419,IS38441,IS38465,IS38505,IS38515,IS38591,IS38621,IS38644,IS39272,IS39637,IS40267,IS40302,IS40799,IS40928,IS40947,IS41730,MS10195,MS10574,MS10702,MS10729,MS11726,MS12406,MS12493,MS12564,MS13068,MS13099,MS13228,MS13918,MS14451,MS14801,MS15458,MS15487,MS15765,MS17130,MS17316,MS18053,MS18290,MS18947,MS19340,MS19486,MS19736,MS19852,MS19930,MS20117,MS20797,MS21162,MS21214,MS21343,MS21628,MS21833,MS21840,MS22212,MS22653,MS23054,MS23290,MS23566,MS24020,MS24219,MS24719,MS24854,MS25121,MS25511,MS25553,MS25625,MS25814,MS25941,SP50683,SP52292,SP53550,SP54118,SP54862,SP54891,SP55295,SP56840,SP58433,SP58537,SP81242,SP81259,SP81488,SP81495 dgv2851n71 16 33735771 33829786 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906617,nsv906612,nsv906624 M 6533 5 0 "" IS31154,MS10869,MS19341,MS23110,SP50159 dgv2852n71 16 33744011 33819975 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906619,nsv906616,nsv906623 M 6533 0 4 "" IS37351,SP51167,SP53643,SP54753 dgv472n67 16 33757882 33767291 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827633,nsv827632 M 31 2 0 "" AK14,NA18542 dgv2853n71 16 33770630 33816391 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906628,nsv906635,nsv906634,nsv906627 M 6533 5 0 "" MS21159,SP51035,SP52139,SP55277,SP81047 dgv2854n71 16 33770630 33816391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906636,nsv906626 M 6533 0 10 "" IS32686,IS33559,IS40495,MS17563,MS24419,MS26033,SP52651,SP54905,SP57341,SP58432 dgv2855n71 16 33770630 33819975 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906632,nsv906633,nsv906629,nsv906637,nsv906625 M 6533 50 38 "" IS31825,IS35294,IS35972,IS38397,IS39330,IS41008,IS41831,IS41908,MS10950,MS12510,MS13019,MS13362,MS15429,MS16038,MS17014,MS17658,MS18132,MS21449,MS22742,MS23865,MS24031,MS24151,MS24783,MS25306,MS25579,SP50766,SP50882,SP51192,SP51368,SP51460,SP52039,SP52053,SP52095,SP52147,SP52270,SP52274,SP52378,SP52428,SP52455,SP52614,SP52732,SP53332,SP54057,SP54127,SP54196,SP54367,SP54370,SP54389,SP54399,SP54544,SP54607,SP54621,SP54636,SP54661,SP54665,SP54822,SP54936,SP55027,SP55034,SP55056,SP55179,SP55219,SP55508,SP55662,SP55670,SP55852,SP55952,SP55992,SP56108,SP56196,SP56197,SP56248,SP56271,SP56324,SP56887,SP56890,SP56913,SP56927,SP57163,SP57193,SP57205,SP57274,SP57449,SP57469,SP80982,SP80986,SP81024,SP81475 dgv2856n71 16 33770630 33829786 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv906643,nsv906630,nsv906638 M 6533 40 25 "" IS31656,IS33178,IS37632,IS38521,IS39625,MS11181,MS11641,MS11652,MS13872,MS14761,MS15803,MS16918,MS17036,MS17745,MS19356,MS21700,MS22268,MS23330,MS23332,MS24805,SP50592,SP50598,SP50615,SP50753,SP50754,SP51108,SP51132,SP51140,SP51238,SP51473,SP51486,SP52027,SP52175,SP52234,SP52376,SP53036,SP53528,SP54083,SP54225,SP54345,SP54356,SP54408,SP54604,SP54760,SP54796,SP54937,SP54967,SP55102,SP55131,SP55160,SP55212,SP55267,SP55310,SP55345,SP55557,SP55642,SP55683,SP55883,SP56041,SP56085,SP56152,SP56816,SP57273,SP58536,SP81014 dgv2857n71 16 33770630 33851769 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906631,nsv906639 M 6533 2 0 "" SP56505,SP56549 esv2543587 16 33771545 33809436 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332741 S 1 1 0 "" NA18507 nsv509616 16 33771796 33833218 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621025,nssv619688 M 4 2 0 "" NA10860,NA15510 esv26418 16 33772070 33809750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16316,esv17503 M 451 0 24 "" NA07037,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12776,NA12878,NA18502,NA18505,NA18508,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv6296 16 33772464 33773561 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28737 S 1 0 1 "" SJK esv9485 16 33772813 33809140 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31926 S 1 0 0 "" SJK esv1058133 16 33776292 33776292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149686 S 2 1 0 "" HuRef esv2643471 16 33781444 33784319 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323318 S 1 0 1 "" NA18507 nsv906641 16 33786957 33819975 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547923,nssv1590766,nssv1576522,nssv1545507,nssv1570996,nssv1536249 M 6533 3 3 "" IS32411,IS34083,IS38582,MS12657,MS16821,MS17618 dgv2858n71 16 33786957 33829786 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906640,nsv906642 M 6533 2 0 "" SP53791,SP55355 nsv906644 16 33790855 33819975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508717 S 6533 0 1 "" SP54561 dgv2859n71 16 33797286 33819975 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906647,nsv906645 M 6533 2 0 "" MS19922,SP56856 nsv906646 16 33797286 33829786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504430,nssv1506700 M 6533 2 0 "" SP52475,SP54393 dgv2860n71 16 33802141 33829786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906648,nsv906652 M 6533 0 2 "" IS38542,SP50973 nsv906649 16 33805342 33819975 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534310,nssv1580486,nssv1589710,nssv1599973 M 6533 1 3 "" IS35336,IS38400,IS41824,MS11537 nsv906650 16 33805342 33829786 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593589,nssv1595683,nssv1581141,nssv1599639,nssv1575608 M 6533 3 2 "" IS33776,IS35509,IS39453,IS40297,IS41739 nsv906651 16 33808653 33819975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508053,nssv1508911,nssv1517287 M 6533 0 3 "" SP54606,SP54666,SP57243 nsv833208 16 33810521 33927835 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452615 S 95 1 0 LINC00273 dgv42e19 16 33823802 33893752 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv8317,esv5448,esv9207,esv6058,esv7671 M 1 0 0 LINC00273 SJK esv2484726 16 33827063 33895255 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292155 S 1 1 0 LINC00273 NA18507 dgv473n67 16 33830108 33875513 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827634,nsv827635 M 31 5 0 LINC00273 AK14,AK18,NA18542,NA18969,NA18973 nsv512435 16 33833772 33841836 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625028 S 1 0 1 "" 1 esv32538 16 33843007 34316965 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97458,essv99810 M 51 2 0 LINC00273,UBE2MP1 21616,22086 esv7084 16 33844518 33850118 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29525 S 1 0 1 "" SJK esv6407 16 33851519 33852764 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28848 S 1 0 0 "" SJK esv7383 16 33852068 33852405 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29824 S 1 0 0 "" SJK dgv474n67 16 33852162 33873666 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827638,nsv827637,nsv827636 M 31 5 0 LINC00273 AK12,NA18537,NA18566,NA18582,NA18949 esv5544 16 33852432 33853012 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27985 S 1 0 1 "" SJK esv3180 16 33852433 33852768 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25621 S 1 0 0 Single Asian sample YH "" YH esv2840 16 33852467 33852565 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25281 S 1 0 0 Single Asian sample YH "" YH esv994638 16 33856541 33868640 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586297 S 3 1 0 LINC00273 HuRef esv26556 16 33856691 33868750 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19726 S 451 4 0 LINC00273 NA18861,NA18907,NA19099,NA19225 esv5671 16 33857116 33857661 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28112 S 1 0 1 "" SJK esv4537 16 33861740 33862726 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26978 S 1 0 0 Single Asian sample YH "" YH esv7086 16 33862158 33862332 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29527 S 1 0 1 "" SJK esv4061 16 33862748 33865985 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26502 S 1 0 0 Single Asian sample YH "" YH esv9440 16 33863205 33866018 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31881 S 1 0 1 "" SJK nsv827639 16 33864556 33873250 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440690 S 31 1 0 LINC00273 NA18564 esv2432026 16 33865195 33865355 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330140 S 1 0 1 "" NA18507 esv2505129 16 33865234 33865310 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283960 S 1 0 1 "" NA18507 esv2437785 16 33865443 33865805 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222498 S 1 0 1 "" NA18507 esv2599658 16 33865520 33865756 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317193 S 1 0 1 "" NA18507 esv2533169 16 33865794 33865883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224566 S 1 0 1 "" NA18507 esv5743 16 33876697 33876789 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28184 S 1 0 1 "" SJK esv2422813 16 33878884 33879630 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369367 S 1 1 0 "" NA18507 esv7685 16 33878947 33881674 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30126 S 1 0 1 "" SJK nsv833209 16 33883095 33903211 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452642,nssv1452675,nssv1452637,nssv1452674,nssv1452657,nssv1452649,nssv1452677,nssv1452621,nssv1452676,nssv1452678,nssv1452641,nssv1452638,nssv1452640,nssv1452639,nssv1452643,nssv1452648,nssv1452647,nssv1452644,nssv1452652,nssv1452645,nssv1452656,nssv1452618,nssv1452650,nssv1452651,nssv1452617,nssv1452616,nssv1452619,nssv1452654,nssv1452655,nssv1452653,nssv1452661,nssv1452626,nssv1452622,nssv1452636,nssv1452660,nssv1452673,nssv1452666,nssv1452658,nssv1452659,nssv1452623,nssv1452665,nssv1452625,nssv1452624,nssv1452663,nssv1452664,nssv1452662,nssv1452672,nssv1452667,nssv1452627,nssv1452629,nssv1452646,nssv1452628,nssv1452635,nssv1452671,nssv1452632,nssv1452670,nssv1452669,nssv1452631,nssv1452630,nssv1452634,nssv1452668,nssv1452633,nssv1452620 M 95 0 63 "" esv7774 16 33883378 33929922 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30215 S 1 0 1 "" SJK esv268151 16 33884478 33884563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517093,essv2514045,essv2514762,essv2516430,essv2515670,essv2518107,essv2515937,essv2514343,essv2517656,essv2517247 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12043,NA12234,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18970 esv272549 16 33884478 33884563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581327 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv436206 16 33884739 33886078 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465560 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv7697 16 33885083 33886990 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30138 S 1 0 1 "" SJK esv4142 16 33891618 33893486 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26583 S 1 0 0 Single Asian sample YH "" YH esv5512 16 33894576 33895626 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27953 S 1 0 1 "" SJK esv1721554 16 33897623 33899334 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022041 S 2 0 1 "" HuRef esv271070 16 33899902 33902541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514687,essv2517544,essv2518719,essv2518559,essv2515099,essv2516299,essv2514488,essv2517746,essv2515838,essv2519059 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA12045,NA12287,NA12812,NA12814,NA12874,NA12878,NA18969,NA19141 esv274278 16 33899902 33902541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581612 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv436213 16 33902314 33913357 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465561 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv8564 16 33904885 33905591 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31005 S 1 0 1 "" SJK nsv833210 16 33920600 33927835 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452679,nssv1452681,nssv1452680 M 95 2 1 "" nsv906654 16 34034376 34177854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581334 S 6533 1 0 "" IS35568 nsv906655 16 34034376 34454657 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561309 S 6533 1 0 UBE2MP1 MS24931 nsv820423 16 34036533 34054500 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421177 S 1 1 0 "" NA10851 esv2568240 16 34037165 34054415 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370333 S 1 1 0 "" NA18507 esv23327 16 34037507 34054591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18376 S 451 0 26 "" NA07037,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19240,NA19257 esv1006952 16 34038885 34052924 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586713 S 3 0 1 "" HuRef esv2846 16 34041356 34052294 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25287 S 1 0 0 Single Asian sample YH "" YH esv6443 16 34042489 34049107 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28884 S 1 0 1 "" SJK esv1600175 16 34043052 34043104 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077750 S 2 0 1 "" HuRef esv8968 16 34050746 34051514 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31409 S 1 0 1 "" SJK nsv457484 16 34078955 34393084 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534666 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UBE2MP1 HGDP00535 dgv165n21 16 34078955 35026333 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521994,nsv521817 M 2026 2 0 FLJ26245,LOC100130700,LOC146481,LOC283914,UBE2MP1 dgv2861n71 16 34101480 34393084 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906657,nsv906656 M 6533 2 0 UBE2MP1 SP55597,SP55791 nsv516385 16 34117306 34663360 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681279,nssv685243,nssv665516,nssv652714,nssv672391,nssv691142,nssv673236,nssv680275,nssv688006,nssv668631,nssv681926,nssv689553,nssv664481,nssv672133,nssv659380,nssv688067,nssv684782,nssv680816,nssv665546,nssv651703,nssv689604,nssv683050,nssv652392,nssv672659,nssv653883,nssv691581,nssv668269,nssv677984,nssv659243,nssv664630,nssv660090,nssv658428,nssv683836,nssv693689,nssv668384,nssv676580,nssv673065,nssv668614,nssv677591,nssv657415,nssv683536,nssv681938,nssv653077,nssv655180,nssv661981,nssv672468,nssv663620,nssv654174,nssv659034,nssv658297,nssv677895,nssv652687,nssv661837,nssv674233,nssv684252,nssv675843,nssv677556,nssv667894,nssv662341,nssv674214,nssv663058,nssv663966,nssv679169,nssv660408,nssv676296,nssv667226,nssv691960,nssv673669,nssv685999,nssv688634,nssv663828,nssv666693,nssv689262,nssv665925,nssv682925,nssv682827,nssv672281,nssv682082,nssv676607,nssv672961,nssv657914,nssv682045,nssv654387,nssv684615,nssv678894,nssv663337,nssv691904,nssv670752,nssv680407,nssv673749,nssv668828,nssv666280,nssv658839,nssv656727,nssv671915,nssv673964,nssv660397,nssv657019,nssv662509,nssv689842,nssv652819,nssv670284,nssv678258,nssv659086,nssv652864,nssv666670,nssv682766,nssv687344,nssv661560,nssv693375,nssv655879,nssv692780,nssv671825,nssv691077,nssv666752,nssv674365,nssv677961,nssv684195,nssv690775,nssv677339,nssv689797,nssv679254,nssv681891,nssv669684 M 2026 124 0 LOC100130700,LOC146481,LOC283914,UBE2MP1 esv2751557 16 34121100 34614572 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981190,essv6981191,essv6981192 M 771 1 0 LOC100130700,LOC146481,LOC283914,UBE2MP1 BEC_362 nsv833211 16 34123710 34247192 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452683,nssv1452682 M 95 2 0 "" esv27886 16 34154400 34156999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19694,esv17234 M 451 0 2 "" NA18505,NA18861 dgv884e1 16 34215264 34490212 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17337,essv12535,essv10350 M 271 0 0 LOC283914,UBE2MP1 NA18506,NA18856,NA19098 nsv428326 16 34215264 34627143 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453237,nssv453234,nssv453231,nssv453214,nssv453233,nssv453212,nssv453218,nssv453221,nssv453228,nssv453211,nssv453223,nssv453232,nssv453229,nssv453227,nssv453216,nssv453215,nssv453217,nssv453225,nssv453220,nssv453235,nssv453240,nssv453236,nssv453238,nssv453226,nssv453224,nssv453213,nssv453210,nssv453239,nssv453222 M 62 0 29 LOC100130700,LOC146481,LOC283914,UBE2MP1 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 dgv885e1 16 34215264 34679872 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15390,essv11243,essv10071,essv3304,essv21242,essv8843,essv1887,essv25081,essv20147,essv18189,essv10471,essv16108,essv3476,essv22566,essv4675,essv12516,essv7339,essv6605,essv8453,essv20233,essv2823,essv12624,essv22881,essv11806,essv23620,essv2626,essv11990,essv24265,essv1250,essv21703,essv851,essv5223,essv20422,essv4180,essv3885,essv1031,essv1369,essv3174,essv10227,essv6153,essv8766,essv8284,essv2472,essv19632,essv23254,essv22955,essv15290,essv4834,essv15770,essv22329,essv12203,essv13189,essv3773,essv24783,essv24083,essv525,essv6373,essv20355,essv284,essv12840,essv4479,essv13646,essv23849,essv7553,essv7025,essv18281,essv14540,essv21774,essv8168,essv15709,essv9192,essv4893,essv22406,essv23505,essv15548,essv12357,essv18420,essv21523,essv6732,essv23650,essv5169,essv5254,essv14191,essv9592,essv10901,essv16635,essv18680,essv10148,essv6034,essv24682,essv3357,essv21852,essv3221,essv4383,essv13743,essv7183,essv21357,essv7124,essv9882,essv19654,essv11778,essv17825,essv11713,essv6291,essv11874,essv3063,essv6706,essv15022,essv5905,essv18086,essv23202,essv2507,essv14344,essv10376,essv10733,essv20182,essv2586,essv22162,essv4663,essv11580,essv5060,essv4029,essv15462,essv23790,essv19430,essv25047,essv6247,essv11121,essv4964,essv16549,essv15854,essv13084,essv4727,essv5351,essv4155,essv9356,essv20106,essv24536,essv23085,essv13882,essv21197,essv4572,essv10623,essv22496,essv21080,essv6832,essv23741,essv11434,essv23138,essv22681,essv5468,essv22254,essv13002,essv9158,essv2191,essv18542,essv8619,essv14084,essv23966,essv22012,essv22273,essv22069,essv15348,essv19108,essv17212,essv17072,essv9790,essv18351,essv19565,essv14960,essv24975,essv10877,essv1780,essv7293,essv19172,essv14601,essv21391,essv13691,essv16764,essv22715,essv6944,essv18998,essv19336,essv9734,essv18853,essv8208,essv5748,essv12718,essv18768,essv17939,essv2313,essv1621,essv3799,essv7416,essv9415,essv1430,essv14405,essv22399,essv23555,essv20568,essv16868,essv10996,essv18030,essv18655,essv7844,essv3716,essv234,essv5134,essv12407,essv2013,essv1189,essv2246,essv16954,essv19829,essv473,essv9068,essv18575,essv24838,essv2841,essv771,essv21,essv16460,essv21445,essv16049,essv4244,essv16266,essv11932,essv5809,essv807,essv1141,essv23454,essv19765,essv22741,essv3095,essv3521,essv17228,essv3977,essv17453,essv24911,essv151,essv22196,essv6897,essv396,essv14690 M 271 0 0 LOC100130700,LOC146481,LOC283914,UBE2MP1 NA06985,NA06991,NA06993,NA06994,NA07000,NA07019,NA07022,NA07029,NA07034,NA07048,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10835,NA10839,NA10846,NA10847,NA10851,NA10854,NA10855,NA10856,NA10857,NA10859,NA10860,NA10861,NA10863,NA11829,NA11830,NA11832,NA11839,NA11840,NA11882,NA11992,NA11993,NA11994,NA12003,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12717,NA12740,NA12751,NA12752,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12891,NA12892,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18523,NA18524,NA18526,NA18532,NA18537,NA18540,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18978,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19172,NA19173,NA19194,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239 nsv7283 16 34216033 34610198 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4212,nssv10954,nssv10955,nssv4211,nssv10953 M 9 0 0 LOC100130700,LOC146481,LOC283914,UBE2MP1 NA12878,NA15510 nsv509617 16 34231296 34231296 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619689 S 4 1 0 "" NA10860 nsv510685 16 34231296 34295869 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618936 S 4 0 1 UBE2MP1 NA10860 dgv4n1 16 34236453 34590205 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis nsv143,nsv144 M 1 0 1 LOC146481,LOC283914,UBE2MP1 NA15510 nsv499817 16 34249609 34615235 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585517 S 9 0 0 LOC100130700,LOC146481,LOC283914,UBE2MP1 dgv117e55 16 34268070 34654032 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751580,esv2751600,esv2751603,esv2751596,esv2751559,esv34829,esv2751594,esv2751606,esv2751584,esv2751601,esv2751583,esv2751574,esv2751581,esv2751568,esv2751597,esv2751595,esv34552,esv2751558,esv2751560,esv2751561,esv2751562,esv2751563,esv2751564,esv2751565,esv2751566,esv2751567,esv2751569,esv2751570,esv2751571,esv2751572,esv2751573,esv2751575,esv2751577,esv2751578,esv2751579,esv2751582,esv2751585,esv2751586,esv2751587,esv2751589,esv2751590,esv2751591,esv2751592,esv2751593,esv2751598,esv2751599,esv2751602,esv2751604,esv2751605,esv2751607,esv2751588,esv2751576 M 771 52 0 LOC100130700,LOC146481,LOC283914 BEC_114,BEC_182,BEC_280,BEC_293,BEC_32,BEC_333,BEC_376,BEC_389,BEC_415,BEC_424,BEC_483,BEC_510,BEC_513,BEC_524,BEC_547,BEC_550,BEC_559,BEC_565,BEC_575,BEC_578,BEC_596,BEC_604,BEC_606,BEC_625,BEC_626,BEC_635,BEC_637,BEC_646,BEC_652,BEC_653,BEC_660,BEC_667,BEC_668,BEC_676,BEC_682,BEC_685,BEC_687,BEC_708,BEC_734,BEC_775,BEC_793,BEC_810,BEC_89,BEC_98,NA10860,NA12813,SPC_141,SPC_162,SPC_186,SPC_194,SPC_20,SPC_37 nsv145 16 34280595 34333152 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv145 S 1 0 1 "" NA15510 nsv833212 16 34291464 34491828 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452688,nssv1452687,nssv1452686,nssv1452685,nssv1452689,nssv1452692,nssv1452690,nssv1452691,nssv1452684 M 95 9 0 LOC283914 dgv118e55 16 34307200 34560001 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34817,esv34287,esv34539 M 771 3 0 LOC283914 NA12815,NA12872,NA12892 dgv886e1 16 34307201 34900436 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22804,essv21647,essv21917,essv22710 M 271 0 0 FLJ26245,LOC100130700,LOC146481,LOC283914 NA10838,NA12004,NA12753,NA12761 dgv119e55 16 34307201 34996986 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34862,esv34629 M 771 2 0 FLJ26245,LOC100130700,LOC146481,LOC283914 NA12004,NA12239 nsv9441 16 34313085 34617320 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23494,nssv24333,nssv23242,nssv22506,nssv26973,nssv22404,nssv26983,nssv23003,nssv26443,nssv23644,nssv28081,nssv23587,nssv24192,nssv26670,nssv26993,nssv20590,nssv20479,nssv26593,nssv23615,nssv24481,nssv26657,nssv26683,nssv22532,nssv26457,nssv22990,nssv24307,nssv23043,nssv23456,nssv24808,nssv21502,nssv24858,nssv25337,nssv25312,nssv23823,nssv25800,nssv23559,nssv26350,nssv24833,nssv23484,nssv23661 M 31 0 28 Samples from several populations that are part of the HapMap project. LOC100130700,LOC146481,LOC283914 NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820561 16 34313371 34618746 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421178 S 1 1 0 LOC100130700,LOC146481,LOC283914 NA10851 esv22460 16 34317021 34615251 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13081 S 451 2 31 LOC100130700,LOC146481,LOC283914 NA06985,NA07037,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv1793 16 34318608 34349423 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10956 S 9 1 0 "" NA15510 nsv819792 16 34320484 34611175 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418801 S 2 0 1 LOC100130700,LOC146481,LOC283914 AK1 esv995712 16 34323534 34605230 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587163 S 3 0 1 LOC100130700,LOC146481,LOC283914 HuRef esv33073 16 34323915 34602359 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98901,essv97504,essv101193,essv93866,essv101048,essv98171,essv94366,essv93157,essv95401,essv95894,essv94617,essv99052,essv93624,essv96149,essv96605,essv100015,essv93476,essv93310,essv99658,essv96521,essv99238,essv100137,essv100388,essv98353 M 51 0 24 LOC100130700,LOC146481,LOC283914 21606,21616,21618,21634,21693,21772,21808,21863,21872,21911,21932,21938,21972,22007,22011,22086,22128,22170,22217,22261,22275,22286,22300,22352 nsv442722 16 34324072 34614568 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100130700,LOC146481,LOC283914 nsv471088 16 34326402 34550665 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545315,nssv545321,nssv545319,nssv545325,nssv545316,nssv545313,nssv545322,nssv545324,nssv545317,nssv545314,nssv545323,nssv545318,nssv545312 M 443 13 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC283914 HGDP00382,HGDP00558,HGDP00578,HGDP00598,HGDP00612,HGDP00616,HGDP00618,HGDP00624,HGDP00630,HGDP00631,HGDP00638,HGDP00646,HGDP01303 dgv22n64 16 34326402 34550666 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817731,nsv817730 M 112 11 0 LOC283914 NA10847,NA10851,NA10860,NA11992,NA11993,NA12056,NA12239,NA12801,NA12813,NA12878,NA12892 esv2421698 16 34328205 34614572 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5101486,essv5154464,essv5116559,essv5097884,essv5144627,essv5090878,essv5042542,essv5053601,essv5132140,essv5104336,essv5123224,essv5155624,essv5042700,essv5093044,essv5082328,essv5160574,essv5005185,essv5159759,essv5034145,essv5063406,essv5067308,essv5084703,essv5071422,essv5046356,essv5037977,essv5069532,essv5147435,essv5107618,essv5025757,essv5080238,essv5071338,essv5024692,essv5096883,essv5010044,essv5068446,essv5001952,essv5102642,essv5106177,essv5136264,essv5112203,essv5116037,essv5073975,essv5100133,essv5116309,essv5026702,essv5146807,essv5112730,essv5099559,essv5047806,essv5076972,essv5048561,essv5101350,essv5014753,essv5154411 M 1184 54 0 LOC100130700,LOC146481,LOC283914 NA06989,NA10838,NA10840,NA10847,NA10852,NA10864,NA11892,NA11894,NA11920,NA11992,NA11993,NA12056,NA12239,NA12286,NA12753,NA12761,NA12762,NA12801,NA12813,NA12815,NA12872,NA12878,NA12892,NA19780,NA19781,NA20126,NA20128,NA20505,NA20508,NA20519,NA20525,NA20542,NA20586,NA20589,NA20753,NA20760,NA20766,NA20771,NA20787,NA20796,NA20797,NA20808,NA20812,NA20819,NA20870,NA20871,NA20892,NA20896,NA21094,NA21103,NA21104,NA21107,NA21123,NA21457 nsv514804 16 34329352 34588692 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628256 S 1414 1 0 LOC146481,LOC283914 nsv833213 16 34357729 34545210 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452701,nssv1452693,nssv1452700,nssv1452699,nssv1452694,nssv1452698,nssv1452697,nssv1452702,nssv1452704,nssv1452703,nssv1452696,nssv1452695 M 95 12 0 LOC283914 essv19487 16 34388087 34528359 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC283914 NA12750 essv10561 16 34476093 34627143 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100130700,LOC146481,LOC283914 NA19240 nsv833214 16 34515401 34713569 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452706,nssv1452705,nssv1452709,nssv1452710,nssv1452707,nssv1452708,nssv1452711 M 95 7 0 LOC100130700,LOC146481 esv32955 16 34621097 34622406 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99443 S 51 1 0 "" 22335 nsv457486 16 34663360 35026333 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534668 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ26245 HGDP01310 essv19821 16 34667702 34820192 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv9442 16 34733329 34883493 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28113 S 31 1 0 Samples from several populations that are part of the HapMap project. FLJ26245 NA19221 nsv827640 16 34814312 34847070 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430190 S 31 1 0 FLJ26245 AK14 nsv442396 16 34879419 34916829 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv511567 16 34969022 35049830 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626193 S 1 0 1 "" 1 nsv509618 16 35014954 35134994 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619690 S 4 1 0 "" NA10860 nsv527568 16 35026333 35106851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704029 S 2026 0 1 "" nsv512436 16 35039964 35056588 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625029 S 1 0 1 "" 1 esv29737 16 35041786 35045325 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18398 S 451 0 4 "" NA12006,NA12489,NA12749,NA12828 nsv433446 16 35062145 35141900 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463327 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv517097 16 35071364 35106851 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675899,nssv672620,nssv679496,nssv685597,nssv661273,nssv679422,nssv655259,nssv678296,nssv663072,nssv689605,nssv653778,nssv683644,nssv676213,nssv675634,nssv672524,nssv683260,nssv691418,nssv683338,nssv669507,nssv656163,nssv672861,nssv681692,nssv660430,nssv668172,nssv665726,nssv656757,nssv655711,nssv656836,nssv661104,nssv662813,nssv664947,nssv682171,nssv680466,nssv693690,nssv667249,nssv700642,nssv685906,nssv685579,nssv675257,nssv693406,nssv653858,nssv664027,nssv687579,nssv687495,nssv668308,nssv687520,nssv689336,nssv653952,nssv683588,nssv670855,nssv684971,nssv656278,nssv669999,nssv672263,nssv669112,nssv681302,nssv681020,nssv671708,nssv659071,nssv667595,nssv691328,nssv656799,nssv686835,nssv654095,nssv658575,nssv661366,nssv658227,nssv658493,nssv673846,nssv657161,nssv687361,nssv688929,nssv690509,nssv677088,nssv673160,nssv669578,nssv678728,nssv654285,nssv686640 M 2026 1 78 "" nsv1794 16 35076815 35110851 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2951 S 9 1 0 "" NA18555 esv6035 16 35092597 35135503 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28476 S 1 0 1 "" SJK nsv821261 16 35100538 35114501 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419883 S 1 1 0 "" NA10851 esv24296 16 35100538 35143251 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15482,esv17681,esv20421 M 451 0 8 "" NA18517,NA18523,NA18858,NA18861,NA19114,NA19129,NA19190,NA19257 esv2523261 16 35133631 35135852 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321392 S 1 0 1 "" NA18507 esv2471216 16 44943079 44983876 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234620 S 1 0 0 "" NA18507 esv9474 16 44943489 44974308 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31915 S 1 0 0 "" SJK dgv43e19 16 44943581 44992946 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5930,esv9334,esv8739,esv6969,esv6477,esv7620,esv7600,esv8013,esv8708 M 1 0 0 "" SJK nsv433447 16 44943958 45037126 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463328 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv7756 16 44944050 44944127 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30197 S 1 1 0 "" SJK nsv435935 16 44944175 44944273 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465562 S 2 1 0 "" NA15510 esv9574 16 44944217 44948733 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32015 S 1 0 1 "" SJK esv2520313 16 44944240 44944309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217922 S 1 0 1 "" NA18507 esv2439401 16 44944417 44944597 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172487 S 1 0 1 "" NA18507 dgv9e197 16 44944673 44945032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2574163,esv2633666 M 1 0 1 "" NA18507 esv2571792 16 44944866 44944960 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356325 S 1 0 1 "" NA18507 esv2490955 16 44945103 44945550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229510 S 1 0 1 "" NA18507 dgv10e197 16 44945200 44945315 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2537780,esv2443802 M 1 0 1 "" NA18507 esv2535967 16 44945320 44945550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372817 S 1 0 1 "" NA18507 esv2577874 16 44945604 44945923 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366199 S 1 0 1 "" NA18507 esv8334 16 44945936 44963716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30775 S 1 0 1 "" SJK dgv44e19 16 44946026 44951863 CNV Loss Ahn et al 2009 19470904 Sequencing esv9466,esv7625 M 1 0 1 "" SJK dgv45e19 16 44946026 44960851 CNV Loss Ahn et al 2009 19470904 Sequencing esv9457,esv8084 M 1 0 1 "" SJK esv9506 16 44946149 44948430 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31947 S 1 0 1 "" SJK nsv103312 16 44946466 44946466 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121890 M 24 "" esv2629063 16 44946608 44947051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324759 S 1 0 1 "" NA18507 dgv50n16 16 44946635 44977819 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435954,nsv435979 M 2 0 0 "" NA15510 esv2433149 16 44948043 44948209 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274676 S 1 0 1 "" NA18507 nsv103109 16 44948175 44949343 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121687 M 24 "" esv8822 16 44948221 44948285 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31263 S 1 1 0 "" SJK esv2526020 16 44948240 44948317 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199107 S 1 0 1 "" NA18507 esv7485 16 44948251 44948933 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29926 S 1 0 1 "" SJK nsv103238 16 44948917 44952026 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121816 M 24 "" nsv436789 16 44948936 44949282 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465564 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv46e19 16 44949031 44982200 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9083,esv6829,esv6791,esv6200 M 1 0 0 "" SJK esv2472287 16 44949330 44949471 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310527 S 1 0 1 "" NA18507 esv7909 16 44949452 44949508 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30350 S 1 1 0 "" SJK esv2605360 16 44949497 44949691 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317898 S 1 0 1 "" NA18507 nsv436016 16 44949653 44951029 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465566 S 2 1 0 "" NA15510 dgv11e197 16 44949727 44950074 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2484783,esv2449611 M 1 0 1 "" NA18507 esv9257 16 44950570 44951810 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31698 S 1 0 1 "" SJK esv2579065 16 44950608 44950754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356057 S 1 0 1 "" NA18507 esv2492428 16 44950705 44951012 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305497 S 1 0 1 "" NA18507 dgv47e19 16 44950783 44964869 CNV Loss Ahn et al 2009 19470904 Sequencing esv8333,esv6410,esv9588 M 1 0 1 "" SJK esv2654299 16 44951447 44951760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353608 S 1 0 1 "" NA18507 esv2457956 16 44951712 44951801 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342090 S 1 0 1 "" NA18507 dgv48e19 16 44951736 44958798 CNV Loss Ahn et al 2009 19470904 Sequencing esv7354,esv8384 M 1 0 1 "" SJK nsv103808 16 44952529 44953098 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122386 M 24 "" esv2638537 16 44952583 44952657 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367414 S 1 0 1 "" NA18507 nsv436667 16 44953564 44984444 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465569 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2426213 16 44954469 44954837 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380610 S 1 0 1 "" NA18507 nsv103863 16 44954535 44955384 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122441 M 24 "" nsv103586 16 44954535 44960342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122164 M 24 "" dgv3e3 16 44955020 44992439 CNV Complex Wang et al 2008 18987735 Sequencing esv4857,esv4026,esv4493 M 1 0 0 "" YH esv3734 16 44956346 44976972 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26175 S 1 0 0 Single Asian sample YH "" YH esv2624688 16 44957563 44957613 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172197 S 1 0 1 "" NA18507 dgv49e19 16 44957811 44992951 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9495,esv9276,esv5784,esv8040 M 1 0 0 "" SJK esv2439522 16 44959957 44960084 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163936 S 1 0 1 "" NA18507 esv2495852 16 44960120 44960312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366853 S 1 0 1 "" NA18507 dgv50e19 16 44960946 44982156 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7367,esv7460,esv9608,esv7174 M 1 0 0 "" SJK esv2544656 16 44961224 44961388 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344704 S 1 0 1 "" NA18507 dgv12e197 16 44961261 44961378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2453544,esv2595349 M 1 0 1 "" NA18507 esv7288 16 44961412 45057385 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29729 S 1 0 0 "" SJK esv2537428 16 44961636 44961927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393465 S 1 0 1 "" NA18507 esv2615431 16 44962176 44962506 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195686 S 1 0 1 "" NA18507 esv2468407 16 44962286 44962593 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352537 S 1 0 1 "" NA18507 esv2442613 16 44962513 44962636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307632 S 1 0 1 "" NA18507 esv2588700 16 44962624 44962928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379281 S 1 0 1 "" NA18507 esv2459265 16 44963559 44963825 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258140 S 1 0 1 "" NA18507 nsv435953 16 44964089 44977807 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465570 S 2 0 0 "" NA15510 esv8215 16 44964104 44969464 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30656 S 1 0 1 "" SJK esv2637637 16 44964579 44964699 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319699 S 1 0 1 "" NA18507 esv2612936 16 44965220 44965294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331087 S 1 0 1 "" NA18507 dgv51e19 16 44966632 44990190 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7706,esv5795 M 1 0 0 "" SJK esv995719 16 44966803 45011578 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586754 S 3 0 1 "" HuRef dgv52e19 16 44967207 44977327 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7881,esv9174,esv7560 M 1 0 0 "" SJK esv29355 16 44967418 45014339 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12819,esv20494 M 451 0 14 "" NA07037,NA11993,NA11995,NA12006,NA12044,NA12414,NA12776,NA18505,NA18523,NA18907,NA19108,NA19147,NA19240,NA19257 esv2506386 16 44968082 44968434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279191 S 1 0 1 "" NA18507 esv6939 16 44969029 44973033 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29380 S 1 0 1 "" SJK dgv53e19 16 44969388 44987184 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5626,esv6284,esv6945 M 1 0 0 "" SJK esv2635841 16 44970022 44970519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381166 S 1 0 1 "" NA18507 esv2505200 16 44971262 44983876 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297375 S 1 0 0 "" NA18507 dgv13e197 16 44971262 44995071 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing esv2510860,esv2490463 M 1 0 0 "" NA18507 esv2512726 16 44971857 44972153 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197017 S 1 0 1 "" NA18507 esv8116 16 44974590 44998868 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30557 S 1 0 1 "" SJK esv6580 16 44974643 44974729 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29021 S 1 1 0 "" SJK esv6229 16 44974678 44974762 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28670 S 1 1 0 "" SJK nsv103652 16 44975076 44975205 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122230 M 24 "" esv8943 16 44975232 44983756 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31384 S 1 0 1 "" SJK esv8626 16 44977090 44989172 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31067 S 1 0 1 "" SJK nsv436017 16 44978267 44979331 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465571 S 2 1 0 "" NA15510 nsv436732 16 44980298 44980470 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465572 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2626069 16 44980763 44980834 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248160 S 1 0 1 "" NA18507 dgv14e197 16 44982092 44982580 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2436859,esv2592133 M 1 0 1 "" NA18507 esv2439233 16 44982267 44982680 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387675 S 1 0 1 "" NA18507 esv2533202 16 44983881 44984043 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212500 S 1 0 1 "" NA18507 esv2471989 16 44983938 44984051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369339 S 1 0 1 "" NA18507 esv2510673 16 44984043 44984150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340056 S 1 0 1 "" NA18507 nsv103776 16 44984237 44984366 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122354 M 24 "" nsv103777 16 44984664 44992400 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122355 M 24 "" esv9206 16 44985077 44985155 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31647 S 1 1 0 "" SJK esv2572179 16 44985218 45057389 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301442 S 1 0 1 "" NA18507 esv2427839 16 44985865 44986160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237072 S 1 0 1 "" NA18507 esv2492949 16 44986516 44986636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359588 S 1 0 1 "" NA18507 esv2458714 16 44991169 44991560 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316503 S 1 0 1 "" NA18507 nsv103457 16 44992430 45000818 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122035 M 24 "" esv2563096 16 44993651 44993872 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388691 S 1 0 1 "" NA18507 esv8600 16 44995043 45011270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31041 S 1 0 1 "" SJK esv6232 16 44999758 45056708 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28673 S 1 0 1 "" SJK esv4390 16 45003026 45033336 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26831 S 1 0 0 Single Asian sample YH "" YH esv7033 16 45007153 45012340 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29474 S 1 0 1 "" SJK nsv436211 16 45039596 45047612 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465573 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv274229 16 45040405 45040490 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581038 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv906659 16 45048915 45157913 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511851 S 6533 1 0 ANKRD26P1 SP55125 esv27891 16 45055493 45058118 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16563,esv15403 M 451 0 4 "" NA11995,NA12044,NA12414,NA19108 nsv833216 16 45058798 45229361 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452712 S 95 0 1 ANKRD26P1,SHCBP1 esv9407 16 45091492 45091557 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31848 S 1 1 0 ANKRD26P1 SJK nsv526656 16 45096893 45404164 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702984 S 2026 1 0 ANKRD26P1,C16orf87,MYLK3,ORC6,SHCBP1,VPS35 nsv428327 16 45114469 45275991 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453243 S 62 1 0 ANKRD26P1,SHCBP1,VPS35 HGDP00449 esv1995465 16 45536939 45537359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700351 S 1 0 1 "" NA18507 nsv1795 16 45597094 45598005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2952 S 9 1 0 "" NA18555 nsv906660 16 45681225 45905281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552141 S 6533 0 1 ITFG1,NETO2 MS19226 nsv528423 16 45721375 45905281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705015 S 2026 0 1 ITFG1,NETO2 esv22069 16 45734759 45735749 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11610 S 451 0 1 NETO2 NA19129 nsv525170 16 45751552 45861136 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701244 S 2026 1 0 ITFG1 dgv887e1 16 45819013 46163788 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv808,essv2683,essv3249 M 271 0 0 ITFG1,PHKB NA18967 nsv1796 16 45862453 45896271 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7245 S 9 1 0 ITFG1 NA12156 nsv510418 16 45886710 45892710 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624177 S 4 0 1 ITFG1 NA18994 nsv833217 16 45915649 46085156 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452713,nssv1452714 M 95 2 0 ITFG1,PHKB esv34317 16 45948101 46229980 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990452,essv6980181,essv6987026 M 771 1 0 ITFG1,PHKB NA18967 nsv520355 16 45982329 46722278 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697369 S 2026 1 0 ABCC12,ITFG1,PHKB nsv525976 16 46141373 46592527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702195 S 2026 1 0 PHKB nsv1797 16 46317943 46351517 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4213 S 9 1 0 "" NA12878 nsv509619 16 46368442 46390826 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618117 S 4 1 0 "" CHM nsv833218 16 46427320 46609246 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452715 S 95 0 1 "" esv29603 16 46430099 46435933 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15547 S 451 0 1 "" NA19129 nsv1798 16 46593372 46638042 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7246 S 9 0 1 "" NA12156 esv23253 16 46636193 46642457 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15426 S 451 0 1 "" NA12749 nsv827641 16 46801565 46802206 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432462 S 31 1 0 ABCC11 AK20 esv2595682 16 46838419 46839236 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334105 S 1 1 0 LONP2,MIR548AE2 NA18507 esv1677967 16 46838864 46838864 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603642 S 2 1 0 LONP2,MIR548AE2 HuRef nsv833219 16 46848096 47016802 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452716 S 95 1 0 LOC100507577,LONP2,MIR548AE2,SIAH1 dgv888e1 16 46886938 47037255 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4607,esv461 M 271 0 0 LOC100507577,LONP2,MIR548AE2,SIAH1 NA18524 esv26254 16 46975978 46977225 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19461 S 451 0 2 MIR548AE2,SIAH1 NA12878,NA19190 esv1008270 16 47032087 47039824 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564494 S 3 0 1 "" HuRef nsv519663 16 47037436 47046888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696979 S 2026 0 1 "" nsv511575 16 47061865 47070482 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626202 S 1 0 1 "" 1 esv2652423 16 47066182 47069968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163913 S 1 0 1 "" NA18507 nsv512437 16 47066339 47069449 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625030 S 1 0 1 "" 1 esv25788 16 47066789 47068458 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14122,esv9835 M 451 32 0 "" NA06985,NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv820740 16 47066789 47068458 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419884 S 1 0 1 "" NA10851 esv2517815 16 47071718 47072697 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328297 S 1 1 0 "" NA18507 esv1185502 16 47072016 47072016 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744561 S 2 1 0 "" HuRef esv1790561 16 47076777 47077233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202539 S 2 0 1 "" HuRef esv26983 16 47107389 47111835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12376 S 451 0 1 "" NA19225 esv33450 16 47129808 47133420 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98774 S 51 1 0 N4BP1 21606 esv2520398 16 47208274 47208976 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189583 S 1 0 0 "" NA18507 esv8202 16 47208348 47208627 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30643 S 1 0 0 "" SJK esv268043 16 47266597 47266803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511238,essv2508393,essv2494245,essv2504102,essv2502991,essv2496371,essv2506160,essv2505768,essv2497971,essv2502678,essv2506490 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12749,NA18502,NA18505,NA18507,NA18510,NA18523,NA18861,NA18945,NA18965,NA19108 nsv1800 16 47277824 47312102 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1306 S 9 1 0 "" NA19240 nsv833220 16 47304678 47457485 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452717 S 95 1 0 "" esv2384084 16 47374185 47374883 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586177 S 1 0 1 "" NA18507 esv6706 16 47374365 47374694 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29147 S 1 0 1 "" SJK dgv9e24 16 47388180 47389205 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750548,esv2750530,esv2750714,esv2750773 M 51 0 4 "" 21791,21802,21805,22352 nsv1801 16 47460682 47505335 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7247 S 9 0 1 "" NA12156 nsv511569 16 47462755 47463558 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626195 S 1 0 1 "" 1 esv22417 16 47462815 47463296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13745 S 451 0 3 "" NA12749,NA12878,NA18907 esv33343 16 47462888 47464131 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94748,essv94426,essv97359,essv99083,essv92876,essv92751,essv93674,essv96640,essv97249,essv98558,essv96011,essv93485,essv99746,essv99181,essv99374 M 51 15 0 "" 21791,21808,21879,21938,21939,21944,21972,22011,22075,22085,22127,22128,22217,22275,22335 esv33751 16 47472180 47473105 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98820 S 51 1 0 "" 21606 esv1458835 16 47509126 47509183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886232 S 2 0 1 "" HuRef esv3031 16 47523752 47524014 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25472 S 1 1 0 Single Asian sample YH "" YH esv2538187 16 47523808 47524800 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187299 S 1 1 0 "" NA18507 dgv13e194 16 47593388 47593911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1997567,esv2172344 M 1 0 1 "" NA18507 esv3016 16 47593557 47593779 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25457 S 1 0 1 Single Asian sample YH "" YH esv1001983 16 47593579 47593713 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566624 S 3 0 1 "" HuRef esv1129965 16 47593589 47593724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346583 S 2 0 1 "" HuRef nsv821685 16 47619254 47687206 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421320 S 31 0 1 "" nsv525406 16 47628695 47640431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701530 S 2026 0 1 "" esv268693 16 47733111 47733430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511816,essv2505336,essv2505799,essv2499011 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18853,NA18861,NA19114 nsv833221 16 47812734 47993913 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452718 S 95 0 1 C16orf78,CBLN1 esv29501 16 47845833 47846565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9910 S 451 0 3 "" NA18861,NA19190,NA19225 esv269828 16 47891740 47892078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514725,essv2514478,essv2519007 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12874,NA19141 nsv1802 16 47931170 47963291 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5603 S 9 1 0 "" NA19129 nsv833222 16 47958917 48127771 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452719 S 95 0 1 C16orf78,ZNF423 esv270983 16 47970816 47971089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512600,essv2511923,essv2510794,essv2496501,essv2493646,essv2500379,essv2494546,essv2507186,essv2512280,essv2501265,essv2504850,essv2510951,essv2497496,essv2501973 M 157 14 0 Samples from several populations that are part of the HapMap project. C16orf78 NA18489,NA18499,NA18501,NA18510,NA18517,NA18537,NA18550,NA18870,NA18949,NA19093,NA19099,NA19116,NA19147,NA19239 esv272617 16 47970833 47971176 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580614,essv2579639 M 7 2 0 Samples from several populations that are part of the HapMap project. C16orf78 NA19238,NA19240 nsv1803 16 47989648 48023853 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7249 S 9 1 0 C16orf78 NA12156 nsv1804 16 48012212 48056219 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4214 S 9 0 1 "" NA12878 nsv833223 16 48087929 48278735 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452720 S 95 0 1 ZNF423 esv1610530 16 48097968 48098102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802862 S 2 0 1 ZNF423 HuRef nsv522048 16 48101741 48112381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694819 S 2026 0 1 ZNF423 nsv519328 16 48173942 48175356 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696794 S 2026 1 0 ZNF423 nsv507815 16 48184174 48190174 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619167 S 4 1 0 ZNF423 NA10860 nsv517237 16 48212511 48235013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676503,nssv654096 M 2026 0 2 ZNF423 nsv527406 16 48365223 48366033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703843 S 2026 0 1 ZNF423 nsv827643 16 48405588 48406259 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432464 S 31 0 1 ZNF423 AK20 nsv827644 16 48406260 48471219 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424196 S 31 1 0 ZNF423 NA18969 esv28561 16 48446084 48450572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17837,esv11356 M 451 0 3 "" NA11995,NA12749,NA19129 nsv906661 16 48461405 48571468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555904 S 6533 0 1 "" MS21706 nsv525598 16 48519907 48527464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701741 S 2026 0 1 "" esv2534314 16 48536268 48538021 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267625 S 1 0 1 "" NA18507 esv2355600 16 48536727 48537318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926477 S 1 0 1 "" NA18507 esv994864 16 48536901 48537214 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575592 S 3 0 1 "" HuRef esv2507690 16 48536904 48537217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310618 S 1 0 1 "" NA18507 esv1701891 16 48536911 48537225 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017841 S 2 0 1 "" HuRef esv5801 16 48536912 48537213 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28242 S 1 0 1 "" SJK esv2178888 16 48635248 48635649 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975821 S 1 0 1 "" NA18507 nsv827645 16 48779278 48781544 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422210 S 31 1 0 PAPD5 NA18997 nsv906662 16 48849844 48908384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543688 S 6533 0 1 ADCY7 MS16153 nsv103726 16 48851531 48851594 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122304 M 24 "" nsv1805 16 48898527 48943435 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7250 S 9 0 1 ADCY7,BRD7 NA12156 nsv1806 16 48921307 48936970 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5604 S 9 1 0 BRD7 NA19129 esv1011295 16 48924249 48942242 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563989 S 3 0 0 BRD7 HuRef esv2533335 16 49009326 49010772 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333842 S 1 0 1 "" NA18507 esv26759 16 49020884 49057176 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10172 S 451 1 0 "" NA12489 esv2222100 16 49066981 49067434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592043 S 1 0 1 "" NA18507 esv3636 16 49067057 49067570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26077 S 1 0 1 Single Asian sample YH "" YH esv1279658 16 49067185 49067289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805603 S 2 0 1 "" HuRef esv1007144 16 49238674 49250255 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564720 S 3 0 1 "" HuRef nsv518317 16 49415194 49466306 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695748 S 2026 1 0 "" nsv906663 16 49416556 49499536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553356 S 6533 0 1 "" MS19941 nsv528036 16 49430496 49431204 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704568 S 2026 1 0 "" nsv521752 16 49430496 49432256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694094 S 2026 0 1 "" nsv523427 16 49430496 49434889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699182 S 2026 0 1 "" nsv528338 16 49430496 49462511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704920 S 2026 1 0 "" nsv525214 16 49431204 49434889 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701297 S 2026 1 0 "" esv23394 16 49588931 49589402 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11340 S 451 3 0 "" NA18523,NA18861,NA19240 nsv512438 16 49604806 49607542 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625031 S 1 0 1 "" 1 esv2574030 16 49605047 49607030 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299893 S 1 0 1 "" NA18507 nsv821596 16 49605283 49607043 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419885 S 1 0 1 "" NA10851 esv29244 16 49605408 49606648 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16452 S 451 2 13 "" NA07037,NA11993,NA12044,NA12239,NA12287,NA12489,NA18508,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19225,NA19240 esv988568 16 49605810 49605886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584691 S 3 0 1 "" HuRef esv994746 16 49606282 49606595 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579813 S 3 0 1 "" HuRef esv2335999 16 49611237 49611648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727044 S 1 0 1 "" NA18507 nsv833224 16 49653989 49810598 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452721 S 95 0 1 SALL1 dgv475n67 16 49727313 49728391 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827649,nsv827648,nsv827646,nsv827647 M 31 6 0 SALL1 AK12,AK16,AK20,NA18969,NA18972,NA18999 nsv906664 16 49901416 49989517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598884 S 6533 1 0 "" IS41317 nsv833225 16 49932387 50138945 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452723,nssv1452722 M 95 2 0 "" nsv507816 16 49946653 49952653 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620604 S 4 1 0 "" NA15510 nsv1807 16 50001617 50022787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2953 S 9 1 0 "" NA18555 esv5475 16 50053395 50053449 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27916 S 1 1 0 "" SJK esv1157112 16 50070598 50070652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639611 S 2 0 1 "" HuRef nsv833227 16 50146866 50344053 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452724 S 95 1 0 "" esv267928 16 50265349 50265521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514827 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 nsv833228 16 50267071 50409506 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452725 S 95 1 0 "" nsv516564 16 50309552 50321431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669191,nssv698685,nssv685812 M 2026 0 3 "" nsv518099 16 50368066 50371362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695511 S 2026 0 1 "" nsv507817 16 50395675 50401675 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623212,nssv619168,nssv620605 M 4 3 0 "" NA10860,NA15510,NA18994 nsv103142 16 50410900 50410949 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121720 M 24 "" esv34024 16 50436066 50874031 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC100505619,LOC388276 esv6429 16 50561889 50562242 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28870 S 1 0 1 "" SJK esv271821 16 50566986 50567223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497771,essv2500156 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18555,NA18573 esv1922735 16 50569098 50569431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613828 S 1 0 1 "" NA18507 esv9277 16 50569435 50569491 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31718 S 1 1 0 "" SJK nsv520812 16 50596704 50615390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694402 S 2026 0 1 "" nsv827650 16 50625229 50681870 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424529 S 31 0 1 LOC100505619,LOC388276 NA18969 esv2290062 16 50706885 50707257 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952358 S 1 0 1 "" NA18507 nsv102987 16 50706984 50707036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121565 M 24 "" esv1007944 16 50706996 50707048 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574083 S 3 0 1 "" HuRef esv1006524 16 50707049 50707101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575680 S 3 0 1 "" HuRef esv1725100 16 50707090 50707143 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935326 S 2 0 1 "" HuRef nsv103609 16 50707091 50707143 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122187 M 24 "" nsv1808 16 50772280 50804697 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7251 S 9 0 1 "" NA12156 nsv522374 16 50777443 50786246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695153 S 2026 0 1 "" esv1573651 16 50840857 50840992 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163269 S 2 0 1 "" HuRef nsv827651 16 50861530 50931010 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424640 S 31 0 1 "" NA18969 nsv833229 16 50922724 51079858 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452726 S 95 0 1 TOX3 esv268717 16 50969834 50970114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514881,essv2516307,essv2516146 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12814,NA12873 esv22253 16 50970003 50971496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12406 S 451 0 1 "" NA12156 nsv457488 16 51025737 51080218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534669 S 1557 0 1 TOX3 1780854481_A nsv523458 16 51030764 51059625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699216 S 2026 0 1 TOX3 nsv833230 16 51133304 51339070 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452727,nssv1452728 M 95 0 2 LOC643714,TOX3 nsv522973 16 51274992 51278682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698643 S 2026 0 1 "" nsv833231 16 51366066 51539608 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452737,nssv1452736,nssv1452729,nssv1452735,nssv1452730,nssv1452733,nssv1452732,nssv1452731,nssv1452734 M 95 9 0 "" nsv518010 16 51379138 51390923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695422 S 2026 0 1 "" esv2999 16 51461582 51461978 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25440 S 1 0 1 Single Asian sample YH "" YH nsv833232 16 51566351 51749335 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452738 S 95 0 1 CHD9 nsv833233 16 51637432 51848749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452739,nssv1452740 M 95 2 0 CHD9 nsv510419 16 51685587 51691587 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622261,nssv621437,nssv624178 M 4 0 3 CHD9 NA10860,NA15510,NA18994 nsv906665 16 51712089 51946549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576182 S 6533 0 1 CHD9 IS33894 esv21460 16 51721992 51722987 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18142 S 451 0 1 CHD9 NA19129 esv1370771 16 51741171 51741171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307215 S 2 1 0 CHD9 HuRef nsv906666 16 51763885 51854896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517549 S 6533 0 1 CHD9 SP57314 nsv9443 16 51899072 51900525 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27003 S 31 0 1 Samples from several populations that are part of the HapMap project. CHD9 NA18860 nsv827652 16 51915456 51916301 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423796 S 31 0 1 CHD9 NA18999 nsv457489 16 51921186 51974123 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534670 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC643802 HGDP00090 nsv906667 16 51952942 51987801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554089,nssv1555093 M 6533 0 2 LOC643802 MS20612,MS21189 esv32813 16 51982855 51986691 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94561,essv100284 M 51 0 2 "" 21932,22286 nsv103503 16 52150777 52156676 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122081 M 24 "" nsv906668 16 52167949 52256177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554217 S 6533 0 1 RPGRIP1L MS20670 esv268190 16 52240423 52240990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496441,essv2511340 M 157 2 0 Samples from several populations that are part of the HapMap project. RPGRIP1L NA18510,NA18570 esv2651638 16 52248237 52249783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344268 S 1 0 1 RPGRIP1L NA18507 nsv525463 16 52256177 52288103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701591 S 2026 0 1 RPGRIP1L esv2509795 16 52324684 52326122 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238186 S 1 0 1 FTO NA18507 nsv527247 16 52383621 52386253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703649 S 2026 0 1 FTO nsv906669 16 52428307 52474009 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499467 S 6533 0 1 FTO SP50073 esv271058 16 52432445 52432791 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514660,essv2519181,essv2515359,essv2514941,essv2514349,essv2517596,essv2516219,essv2516917,essv2517335,essv2519072,essv2513877,essv2518905,essv2518384,essv2519478,essv2513633 M 157 15 0 Samples from several populations that are part of the HapMap project. FTO NA07346,NA07347,NA11840,NA11894,NA12249,NA12812,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19239,NA19240 esv273135 16 52432450 52432786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581754,essv2582572,essv2582800,essv2584649,essv2583826 M 7 5 0 Samples from several populations that are part of the HapMap project. FTO NA12878,NA12891,NA12892,NA19239,NA19240 nsv906670 16 52441905 52547174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559213,nssv1588246,nssv1538016,nssv1553547,nssv1560223 M 6533 0 5 FTO IS38176,MS13451,MS20152,MS23787,MS24374 esv1018277 16 52479771 52479771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339606 S 2 1 0 FTO HuRef nsv906671 16 52615250 52671108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574772 S 6533 0 1 FTO IS33627 nsv827654 16 52629590 52630584 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432466 S 31 0 1 FTO AK20 nsv833234 16 52637162 52791879 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452746,nssv1452742,nssv1452741,nssv1452743,nssv1452745,nssv1452744 M 95 6 0 FTO esv3322 16 52721615 52721899 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25763 S 1 0 1 Single Asian sample YH "" YH nsv833235 16 52820799 53058588 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452747,nssv1452748 M 95 2 0 IRX3 nsv833236 16 52867795 53040084 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452749 S 95 0 1 IRX3 nsv827655 16 52869584 52885002 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428683 S 31 1 0 IRX3 AK10 dgv166n21 16 52906758 52908713 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524457,nsv527664 M 2026 0 2 "" nsv520631 16 52908713 52909236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697527 S 2026 0 1 "" nsv1809 16 52956578 52991139 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1307 S 9 1 0 "" NA19240 dgv889e1 16 52965305 52987359 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1270,essv22796 M 271 0 0 "" NA12753 esv25157 16 52965514 52977127 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18853 S 451 0 1 "" NA12004 nsv442398 16 52967738 52977129 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv22696 16 52967948 52977133 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12004 nsv516140 16 52971231 52976802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684544,nssv669063,nssv655548,nssv664870,nssv652541,nssv697112,nssv693352,nssv693874,nssv680627,nssv664197,nssv657583,nssv672392,nssv656092,nssv679170,nssv668474,nssv689238,nssv657871,nssv670984 M 2026 0 18 "" esv2751609 16 53014100 53124735 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981901,essv6981902,essv6981903 M 771 0 1 "" BEC_500 nsv519853 16 53050150 53050943 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693662,nssv659087,nssv705440 M 2026 1 2 "" nsv520684 16 53050150 53051333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694394 S 2026 0 1 "" nsv525032 16 53050150 53053287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701073 S 2026 0 1 "" dgv890e1 16 53121783 53309710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5272,esv470 M 271 0 0 "" NA18624 nsv833238 16 53153646 53379117 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452750 S 95 1 0 "" esv2514424 16 53217067 53218643 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320425 S 1 0 1 "" NA18507 esv2189953 16 53217672 53218370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548415 S 1 0 1 "" NA18507 esv4629 16 53217812 53218289 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27070 S 1 0 1 Single Asian sample YH "" YH esv2431117 16 53298191 53299718 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364167 S 1 0 1 "" NA18507 dgv891e1 16 53310669 53336408 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1984,esv1224 M 271 0 0 "" NA18942 esv34604 16 53310669 53404883 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980029,essv6980030 M 771 0 1 "" NA18942 nsv9444 16 53319925 53337148 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21532 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv827656 16 53323380 53336888 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435456 S 31 0 1 "" NA18942 nsv1811 16 53446684 53475782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2954 S 9 1 0 "" NA18555 nsv827657 16 53510982 53527421 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424752 S 31 1 0 CRNDE,IRX5 NA18969 dgv476n67 16 53525364 53525957 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827659,nsv827658 M 31 2 0 IRX5 AK20,AK6 esv2052007 16 53553589 53553997 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554449 S 1 0 1 "" NA18507 esv1486188 16 53553793 53553852 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730368 S 2 0 1 "" HuRef nsv906672 16 53568605 53611626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538700 S 6533 0 1 "" MS13770 nsv526574 16 53642246 53648412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702891 S 2026 0 1 "" nsv525340 16 53645726 53650919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701458 S 2026 0 1 "" esv26131 16 53649384 53651497 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12097 S 451 0 10 "" NA12414,NA12749,NA15510,NA18517,NA18907,NA18909,NA19099,NA19108,NA19147,NA19190 esv23296 16 53716645 53717169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12646 S 451 0 2 "" NA18502,NA18523 esv1000146 16 53737422 53737881 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587067 S 3 0 1 "" HuRef nsv833239 16 53793981 53945033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452754,nssv1452770,nssv1452753,nssv1452751,nssv1452752,nssv1452759,nssv1452755,nssv1452758,nssv1452757,nssv1452756,nssv1452764,nssv1452760,nssv1452761,nssv1452762,nssv1452768,nssv1452763,nssv1452765,nssv1452766,nssv1452767,nssv1452772,nssv1452771,nssv1452769 M 95 22 0 IRX6 esv274233 16 53794015 53794251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579330,essv2579613 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv1812 16 53848161 53880727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4215 S 9 1 0 "" NA12878 esv268071 16 53849482 53849567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518117,essv2517549,essv2516267 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12878,NA12891 esv272824 16 53849489 53850923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578959 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv260060 16 53880882 53881527 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396574,essv2400629,essv2395014,essv2397458,essv2397935,essv2395216,essv2398002 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18510,NA18519,NA18520,NA18907,NA19108,NA19147 nsv507818 16 53996593 54002593 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620606,nssv619169 M 4 2 0 "" NA10860,NA15510 nsv518503 16 54059877 54062022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695944 S 2026 0 1 "" nsv521337 16 54102050 54177075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697945 S 2026 0 1 CAPNS2,LPCAT2 nsv519868 16 54188536 54199114 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697093 S 2026 1 0 "" nsv906673 16 54188536 54355871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533618 S 6533 0 1 CES1P1,CES1P2,SLC6A2 MS11241 nsv517827 16 54213856 54255528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695232 S 2026 0 1 SLC6A2 dgv892e1 16 54226897 54541091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1251,essv6143,essv20105,esv407,essv889 M 271 0 0 CES1,CES1P1,CES1P2,CES5A,SLC6A2 NA07048,NA18532,NA18995,NA19000 esv9043 16 54278535 54278613 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31484 S 1 1 0 SLC6A2 SJK esv8787 16 54278584 54278658 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31228 S 1 1 0 SLC6A2 SJK esv1621115 16 54278604 54278604 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764431 S 2 1 0 SLC6A2 HuRef nsv103423 16 54278604 54278604 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122001 M 24 SLC6A2 nsv906674 16 54287337 54362680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518309 S 6533 1 0 CES1P1,CES1P2,SLC6A2 SP57485 nsv1813 16 54291319 54323315 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5605 S 9 1 0 CES1P2,SLC6A2 NA19129 nsv819933 16 54294857 54295705 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419101 S 2 1 0 SLC6A2 AK1 esv2422643 16 54311903 54313201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231141 S 1 0 1 "" NA18507 nsv7284 16 54315625 54437783 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10958,nssv10957,nssv10091,nssv9316,nssv6671 M 9 0 0 CES1,CES1P1,CES1P2,CES5A NA12156,NA15510,NA18517,NA18956 esv9707 16 54325111 54410865 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32148 S 1 0 0 CES1,CES1P1,CES1P2 SJK nsv147 16 54333781 54403464 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv147 S 1 0 0 CES1,CES1P1,CES1P2 NA15510 nsv527963 16 54333986 54336256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704473 S 2026 0 1 CES1P2 dgv2862n71 16 54336337 54434247 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906676,nsv906677,nsv906679,nsv906680,nsv906678,nsv906675 M 6533 20 0 CES1,CES1P1,CES1P2 IS30241,IS30824,IS30883,IS31054,IS31067,IS31187,IS31205,IS31401,IS31729,IS31904,IS32615,IS33551,IS33760,IS34497,IS36158,IS36722,IS38294,IS39095,IS39243,IS39745 dgv54e19 16 54348845 54427490 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7323,esv8651 M 1 0 0 CES1,CES1P1 SJK esv998750 16 54350056 54429203 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565358 S 3 0 0 CES1,CES1P1 HuRef nsv526517 16 54351338 54351802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702827 S 2026 0 1 "" esv2421900 16 54351338 54379945 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5002516,essv5022604,essv5094839,essv5113461,essv5150542,essv5025732,essv5144006,essv5059856,essv5143149,essv5076595,essv5008613,essv5081573,essv5054505,essv5112713,essv5150616,essv5116667,essv5056273,essv5157236,essv5110952,essv5017936,essv5043186,essv5064326,essv5141130,essv5156011,essv5004297,essv5134734,essv5051340,essv5061105,essv5155426,essv5105327,essv5043718,essv5092463,essv5101646,essv5022660,essv5028506,essv5021871,essv5038570,essv5014042,essv5113462,essv5026753,essv5058519,essv5034836,essv5136731,essv5092865,essv5014626,essv5106210,essv5043504,essv5041907,essv5149023,essv5109742,essv5091130,essv5094189,essv5102626,essv5081349,essv5141180,essv5060417,essv5078207,essv5054003,essv5082222,essv5119136,essv5074957,essv5064165,essv5064716,essv5044457,essv5109526,essv5045324,essv5146037,essv5132499,essv5142823,essv5087650,essv5033744,essv5036737,essv5104318,essv5135415,essv5110027,essv5048825,essv5120176,essv5019266,essv5125028,essv5140166,essv5014739,essv5045985,essv5130398,essv5090799,essv5050943,essv5130575,essv5129851,essv5125924,essv5021827,essv5137503,essv5059910,essv5114921,essv5067439,essv5013238,essv5156880,essv5007507,essv5056896,essv5096971,essv5096508,essv5104885,essv5038021,essv5009234,essv5102067,essv5008776,essv5106211,essv5159094,essv5051932,essv5079873,essv5054554,essv5109163,essv5107972,essv5025469,essv5105249,essv5043699,essv5064705,essv5096360,essv5087934,essv5007381,essv5146618,essv5081603,essv5098018,essv5075500,essv5126896,essv5024325,essv5025835,essv5085709,essv5144793,essv5161037,essv5161161,essv5030553,essv5076339,essv5018707,essv5121300,essv5104529,essv5016374,essv5023290,essv5098954,essv5143471,essv5117782,essv5010976,essv5071615,essv5120330,essv5012436,essv5074751,essv5051114,essv5119485,essv5113006,essv5146751,essv5042903,essv5156923,essv5002994,essv5084728,essv5004205,essv5032408,essv5006931,essv5098519,essv5135058,essv5074535,essv5050528,essv5031734,essv5052953,essv5046715,essv5129508,essv5040445,essv5045686,essv5061695,essv5105623,essv5143772,essv5136817,essv5100169,essv5119085,essv5161121,essv5005210,essv5032211,essv5030153,essv5087788,essv5005827,essv5092521,essv5120251,essv5145610,essv5113235,essv5056830,essv5099163,essv5125036,essv5032947,essv5160286,essv5093467,essv5046906,essv5013218,essv5117864,essv5105925,essv5019931,essv5135806,essv5021059,essv5159847,essv5049799,essv5111149,essv5114556,essv5066649,essv5139108,essv5108652,essv5106689,essv5111146,essv5053634,essv5027387,essv5133240,essv5031988,essv5006918,essv5020560,essv5074208,essv5045969,essv5118259,essv5135404,essv5122222,essv5034907,essv5039357,essv5150582,essv5033050,essv5054716,essv5057972,essv5014712,essv5058352,essv5010605,essv5064468,essv5058329,essv5097390,essv5146334,essv5004742,essv5043448,essv5057152,essv5037574,essv5089056,essv5118760,essv5057935,essv5102826,essv5067970,essv5143470,essv5076504,essv5114927,essv5150020,essv5153789,essv5012883,essv5118713,essv5047945,essv5038464,essv5122972,essv5055112,essv5064849,essv5159963,essv5010987,essv5139709,essv5069337,essv5140258,essv5097963,essv5020399,essv5102452,essv5057297,essv5003937,essv5016019,essv5055299,essv5019210,essv5014643,essv5042555,essv5068056,essv5039129,essv5076419,essv5130984,essv5120815,essv5065375,essv5027901,essv5081338,essv5097134,essv5009263,essv5005735,essv5122785,essv5063261,essv5100552,essv5157867,essv5151552,essv5140610,essv5049219,essv5019145,essv5121689,essv5088383,essv5140184,essv5062008,essv5029918,essv5110705,essv5152272,essv5061236,essv5085439,essv5028107,essv5128503,essv5008587,essv5093692,essv5033483,essv5143783,essv5031157,essv5151905,essv5059303,essv5077948,essv5023838,essv5003778 M 1184 0 303 CES1P1 NA06985,NA06986,NA06991,NA06993,NA06997,NA07014,NA07051,NA07055,NA07345,NA10835,NA10837,NA10839,NA10840,NA10843,NA10845,NA10855,NA10856,NA10863,NA11830,NA11832,NA11891,NA11917,NA11919,NA11920,NA11930,NA11995,NA12005,NA12044,NA12145,NA12146,NA12155,NA12234,NA12248,NA12249,NA12272,NA12286,NA12336,NA12376,NA12386,NA12400,NA12546,NA12750,NA12760,NA12762,NA12777,NA12877,NA12890,NA17962,NA17966,NA17970,NA17974,NA17975,NA17976,NA17977,NA17979,NA17981,NA17982,NA17983,NA17986,NA17987,NA17990,NA17993,NA17996,NA17997,NA17998,NA17999,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18118,NA18127,NA18128,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18146,NA18148,NA18149,NA18150,NA18152,NA18153,NA18154,NA18155,NA18156,NA18158,NA18159,NA18160,NA18161,NA18162,NA18511,NA18515,NA18517,NA18529,NA18532,NA18534,NA18536,NA18537,NA18546,NA18557,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18579,NA18592,NA18593,NA18597,NA18602,NA18603,NA18608,NA18609,NA18610,NA18613,NA18614,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18627,NA18628,NA18630,NA18631,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18670,NA18682,NA18685,NA18702,NA18740,NA18747,NA18748,NA18749,NA18757,NA18939,NA18942,NA18943,NA18946,NA18947,NA18949,NA18954,NA18960,NA18961,NA18962,NA18963,NA18965,NA18966,NA18967,NA18968,NA18970,NA18972,NA18973,NA18974,NA18976,NA18977,NA18978,NA18980,NA18990,NA18991,NA18993,NA18995,NA18998,NA18999,NA19000,NA19010,NA19055,NA19056,NA19057,NA19064,NA19065,NA19067,NA19070,NA19072,NA19075,NA19078,NA19079,NA19081,NA19084,NA19085,NA19087,NA19222,NA19314,NA19317,NA19352,NA19376,NA19625,NA19649,NA19650,NA19652,NA19654,NA19656,NA19661,NA19662,NA19664,NA19665,NA19675,NA19677,NA19678,NA19680,NA19681,NA19683,NA19684,NA19686,NA19700,NA19716,NA19718,NA19720,NA19721,NA19722,NA19724,NA19726,NA19747,NA19748,NA19755,NA19756,NA19757,NA19774,NA19775,NA19789,NA19916,NA19918,NA20292,NA20300,NA20346,NA20504,NA20506,NA20519,NA20520,NA20525,NA20538,NA20540,NA20542,NA20543,NA20582,NA20586,NA20588,NA20752,NA20756,NA20772,NA20802,NA20811,NA20845,NA20852,NA20854,NA20859,NA20861,NA20866,NA20870,NA20872,NA20877,NA20883,NA20885,NA20887,NA20888,NA20899,NA20901,NA20909,NA20911,NA21092,NA21097,NA21099,NA21100,NA21102,NA21104,NA21108,NA21113,NA21118,NA21125,NA21143,NA21297,NA21307,NA21355,NA21359,NA21388,NA21389,NA21435,NA21526,NA21582,NA21634,NA21636 nsv9445 16 54351821 54381093 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22536,nssv24913,nssv23298,nssv24963,nssv23157,nssv23746,nssv24359,nssv23031,nssv21562,nssv24938,nssv23129,nssv23540,nssv23270,nssv20539,nssv21592,nssv23568,nssv26366,nssv24385,nssv26607,nssv23101,nssv23719,nssv21622,nssv20509,nssv23671,nssv23512,nssv23773,nssv24411,nssv23643 M 31 0 13 Samples from several populations that are part of the HapMap project. CES1P1 NA07048,NA10839,NA10863,NA11830,NA12155,NA18517,NA18537,NA18563,NA18564,NA18572,NA18942,NA18972,NA18980 dgv477n67 16 54352196 54390212 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827662,nsv827661,nsv827660,nsv827663,nsv827665,nsv827666 M 31 0 18 CES1P1 AK12,AK14,AK16,AK18,AK20,AK8,NA18537,NA18547,NA18564,NA18566,NA18592,NA18942,NA18947,NA18949,NA18968,NA18972,NA18973,NA18999 esv32885 16 54352307 54379863 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101492,essv98924,essv97507,essv93836,essv96783,essv100999,essv95062,essv98256,essv94756,essv93976,essv101403,essv94443,essv95604,essv93141,essv95241,essv94608,essv92999,essv92764,essv93613,essv96216,essv96745,essv98555,essv100018,essv99927,essv99671,essv94940,essv92525,essv96515,essv99300,essv97654,essv100274,essv100593,essv100372,essv99538,essv96349,essv94219 M 51 33 2 CES1P1 21603,21606,21616,21634,21659,21693,21721,21772,21791,21802,21805,21808,21841,21863,21872,21932,21939,21944,21972,22007,22011,22085,22086,22217,22231,22233,22261,22275,22278,22286,22298,22300,22335,22371,22394 nsv511560 16 54352715 54367645 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626185 S 1 1 0 CES1P1 1 nsv499134 16 54353094 54423417 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585518 S 9 0 0 CES1,CES1P1 esv21956 16 54353245 54381169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13154 S 451 0 5 CES1P1 NA06985,NA11995,NA12044,NA15510,NA18517 esv1000115 16 54353890 54379945 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586023 S 3 0 1 CES1P1 HuRef nsv442723 16 54353890 54379945 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CES1P1 nsv819089 16 54354412 54384955 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418717 S 2 0 1 CES1P1 AK1 dgv15e197 16 54356364 54407878 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing esv2470039,esv2451120 M 1 0 0 CES1,CES1P1 NA18507 esv1010290 16 54360776 54407157 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564285 S 3 0 0 CES1,CES1P1 HuRef nsv827667 16 54363695 54365332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429996,nssv1435458 M 31 0 2 CES1P1 NA18942,NA18968 dgv478n67 16 54370834 54376795 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827668,nsv827669 M 31 0 3 "" AK14,NA18968,NA18999 esv9659 16 54371899 54407507 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32100 S 1 0 0 CES1 SJK nsv827670 16 54372389 54375074 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436206 S 31 0 1 "" NA18566 dgv2863n71 16 54375431 54414218 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906681,nsv906682 M 6533 3 0 CES1 MS13487,MS20957,MS24529 dgv2864n71 16 54375431 54427229 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906690,nsv906684,nsv906692,nsv906691,nsv906686,nsv906685,nsv906689,nsv906683 M 6533 35 0 CES1 IS30218,IS30280,IS30506,IS30564,IS30694,IS30700,IS31011,IS31142,IS31543,IS32361,IS33696,IS35331,IS37156,IS37591,IS38065,IS38072,IS38471,IS39011,IS40491,IS41948,MS10381,MS11015,MS13712,MS14961,MS23627,SP51460,SP52053,SP52057,SP53242,SP54407,SP55800,SP56002,SP56807,SP57599,SP58249 dgv2865n71 16 54375431 54814153 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906699,nsv906711,nsv906687,nsv906712,nsv906688 M 6533 5 0 CES1,CES5A,DKFZP434H168,GNAO1,LOC283856 MS21390,MS24260,MS24444,MS24476,MS24774 nsv471382 16 54379001 54421563 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548167,nssv548178,nssv548156 M 3 CES1 nsv820205 16 54384955 54423513 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418727 S 2 1 0 CES1 AK1 dgv2866n71 16 54390068 54420550 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906695,nsv906693,nsv906694 M 6533 26 0 CES1 IS30129,IS33846,IS34271,IS34422,IS37734,IS38162,IS38507,IS38598,IS39272,IS39678,IS40073,IS41166,IS41284,IS41739,MS13918,MS14872,MS15269,MS16493,MS18326,MS18365,MS20236,SP52329,SP56663,SP57165,SP57860,SP58408 nsv906696 16 54390068 54424740 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564235,nssv1563518,nssv1583550,nssv1599553,nssv1521177,nssv1582577,nssv1528294,nssv1525520,nssv1526109,nssv1540417,nssv1560302,nssv1580391,nssv1519884,nssv1599519,nssv1566403,nssv1589140,nssv1569369,nssv1550161,nssv1537358,nssv1530192,nssv1539574,nssv1530000 M 6533 21 1 CES1 IS30189,IS30683,IS31563,IS35287,IS36011,IS36527,IS38293,IS41648,IS41664,MS10166,MS10228,MS13168,MS14368,MS14835,MS18329,MS24423,MS26073,SP50597,SP52263,SP56658,SP57008,SP81188 dgv2867n71 16 54390068 54434247 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906698,nsv906697,nsv906705 M 6533 9 0 CES1 IS31166,IS31228,IS40571,IS41832,MS10121,MS11622,MS15364,MS18742,MS19008 nsv9446 16 54397874 54424758 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23800,nssv20569,nssv23185,nssv23089,nssv26620,nssv21652,nssv23326,nssv23596,nssv23729,nssv24988 M 31 10 0 Samples from several populations that are part of the HapMap project. CES1 NA07048,NA10839,NA12155,NA18517,NA18537,NA18563,NA18564,NA18572,NA18942,NA18980 esv28619 16 54399626 54422880 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13837 S 451 5 0 CES1 NA06985,NA11995,NA12044,NA15510,NA18517 dgv479n67 16 54399874 54424395 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827673,nsv827674,nsv827671,nsv827672 M 31 9 0 CES1 AK14,AK18,NA18537,NA18564,NA18566,NA18949,NA18968,NA18973,NA18999 nsv442724 16 54399883 54420211 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CES1 esv32573 16 54400504 54422636 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96875,essv94838,essv101369,essv95352,essv94566,essv92960,essv92750,essv96736,essv94896,essv92521,essv96546,essv100266 M 51 1 11 CES1 21659,21791,21805,21872,21932,21939,21944,22011,22231,22233,22261,22286 dgv2868n71 16 54400753 54420550 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906700,nsv906701,nsv906702,nsv906707,nsv906708 M 6533 9 0 CES1 IS32894,IS37065,IS37771,MS24586,SP52427,SP53051,SP54456,SP54684,SP55382 dgv2869n71 16 54400753 54427229 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906703,nsv906704,nsv906710,nsv906709 M 6533 7 0 CES1 IS31094,IS35114,IS35789,IS36533,IS36787,IS38736,MS13426 nsv906706 16 54401929 54410819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518715 S 6533 1 0 CES1 SP57925 nsv148 16 54407676 54413103 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv148 S 1 0 0 CES1 NA15510 nsv827676 16 54412955 54422812 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435459 S 31 1 0 CES1 NA18942 nsv833240 16 54425485 54559961 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452773,nssv1452774 M 95 2 0 CES5A nsv906713 16 54438182 54464729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501630 S 6533 1 0 CES5A SP50695 esv22088 16 54441710 54442285 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11230 S 451 1 0 CES5A NA19240 esv3683 16 54502103 54502480 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26124 S 1 0 1 Single Asian sample YH CES5A YH nsv103512 16 54502196 54502339 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122090 M 24 CES5A esv2274629 16 54536392 54536826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772843 S 1 0 1 CES5A NA18507 nsv833241 16 54570840 54771366 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452775 S 95 0 1 LOC283856 esv1006409 16 54615506 54617563 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587258 S 3 0 1 "" HuRef esv274232 16 54632577 54632907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581714,essv2582439 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv1814 16 54723934 54759593 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7252 S 9 0 1 LOC283856 NA12156 esv272874 16 54846478 54847248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581162 S 7 1 0 Samples from several populations that are part of the HapMap project. GNAO1 NA19240 nsv833242 16 54850767 55038253 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452778,nssv1452777,nssv1452776 M 95 0 3 AMFR,GNAO1,NUDT21 nsv906714 16 54888333 54953987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530837 S 6533 0 1 AMFR,GNAO1 MS10311 nsv519979 16 54897597 54958477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697160 S 2026 0 1 AMFR,GNAO1 nsv906715 16 54904973 55014083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600534 S 6533 0 1 AMFR,GNAO1 IS41894 nsv523649 16 54910406 54944970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699450 S 2026 0 1 GNAO1 nsv521726 16 54922856 54944970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694486 S 2026 0 1 GNAO1 dgv2870n71 16 54926666 54960032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906716,nsv906718 M 6533 0 2 AMFR,GNAO1 IS33797,MS18276 nsv906717 16 54930809 54945545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499634 S 6533 0 1 GNAO1 SP50159 nsv519346 16 54935249 54945545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674532,nssv677766,nssv680835,nssv688024,nssv655524,nssv657137,nssv700464 M 2026 0 7 GNAO1 nsv525929 16 54942221 54958477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702134 S 2026 0 1 AMFR,GNAO1 nsv833243 16 54966784 55140874 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452779 S 95 1 0 AMFR,BBS2,NUDT21,OGFOD1 esv29720 16 55016408 55017058 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12621 S 451 0 1 AMFR NA19129 esv267810 16 55127275 55127612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514871,essv2517962 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12872 esv2266945 16 55131905 55132306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916710 S 1 0 1 "" NA18507 nsv1815 16 55137428 55150597 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7253 S 9 1 0 "" NA12156 nsv906719 16 55145337 55161831 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507164 S 6533 1 0 MT4 SP54480 nsv102988 16 55172686 55174527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121566 M 24 "" esv22398 16 55173007 55174517 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20447 S 451 0 1 "" NA18505 esv2459280 16 55174204 55175391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359231 S 1 0 1 "" NA18507 esv2119964 16 55174337 55175042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722771 S 1 0 1 "" NA18507 esv3204 16 55174462 55175046 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25645 S 1 0 1 Single Asian sample YH "" YH esv6310 16 55174513 55174863 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28751 S 1 0 1 "" SJK nsv906720 16 55196735 55276658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592337,nssv1530838 M 6533 0 2 MT1A,MT1B,MT1DP,MT1E,MT1F,MT1G,MT1H,MT1IP,MT1JP,MT1L,MT1M,MT1X,MT2A IS39233,MS10311 dgv480n67 16 55256326 55267342 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827677,nsv827678 M 31 0 2 MT1G,MT1H,MT1IP NA18592,NA18942 nsv827679 16 55256416 55263862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433279 S 31 0 1 MT1G,MT1H NA18972 dgv481n67 16 55256798 55259457 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827681,nsv827680 M 31 0 2 MT1G AK20,NA18547 nsv827682 16 55256798 55263550 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424590 S 31 1 0 MT1G,MT1H NA18582 nsv833244 16 55269837 55431070 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452780 S 95 1 0 MT1X,NUP93 nsv520661 16 55315317 55317940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687046,nssv673670 M 2026 0 2 "" esv268114 16 55319096 55319436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519104 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv33108 16 55448509 55475034 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98824 S 51 0 1 MIR138-2,SLC12A3 21606 dgv2871n71 16 55462933 55502288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906721,nsv906722 M 6533 0 3 SLC12A3 MS10311,MS13770,MS21706 nsv526264 16 55470404 55484294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702537 S 2026 0 1 SLC12A3 nsv519897 16 55503698 55503922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697113 S 2026 0 1 SLC12A3 nsv524073 16 55552737 55554734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699941 S 2026 0 1 CETP nsv527160 16 55564693 55564854 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703554 S 2026 1 0 CETP nsv827683 16 55608235 55738696 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432470 S 31 0 1 CPNE2,NLRC5 AK20 esv1676058 16 55611988 55611988 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655814 S 2 1 0 NLRC5 HuRef esv1010488 16 55616758 55617286 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586820 S 3 1 0 NLRC5 HuRef nsv906723 16 55639867 55714536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530840 S 6533 0 1 CPNE2,NLRC5 MS10311 esv2132758 16 55662201 55662887 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645706 S 1 0 1 NLRC5 NA18507 esv2254792 16 55662245 55662647 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911548 S 1 0 1 NLRC5 NA18507 esv22093 16 55683572 55684683 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16701 S 451 0 2 CPNE2 NA12749,NA19129 nsv522759 16 55729834 55741226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698398 S 2026 0 1 CPNE2 nsv509621 16 55840107 55891161 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619691 S 4 1 0 ARL2BP,PLLP NA10860 esv9721 16 55840974 55841064 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32162 S 1 1 0 ARL2BP SJK esv1000857 16 55879235 55887248 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564306 S 3 0 1 "" HuRef esv993464 16 55883759 55884708 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586264 S 3 0 1 "" HuRef nsv512439 16 55883778 55886321 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625033 S 1 0 1 "" 1 esv27919 16 55884184 55884708 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13170 S 451 1 0 "" NA12749 esv33351 16 55902640 55902692 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93604 S 51 0 1 "" 21972 esv2469420 16 55922683 55924729 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341654 S 1 0 1 "" NA18507 esv27539 16 55923615 55924606 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18176 S 451 3 2 "" NA11894,NA12878,NA19108,NA19147,NA19257 nsv820546 16 55923615 55924606 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419886 S 1 0 1 "" NA10851 esv1964798 16 55923624 55924807 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788013 S 1 0 1 "" NA18507 esv9400 16 55923814 55924620 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31841 S 1 0 1 "" SJK nsv906724 16 56020648 56102826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527534 S 6533 0 1 CIAPIN1,COQ9,DOK4,POLR2C SP58506 nsv833245 16 56025486 56176032 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452781 S 95 0 1 CCDC102A,CIAPIN1,COQ9,DOK4,GPR114,POLR2C nsv906725 16 56060861 56277989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530841 S 6533 0 1 CCDC102A,DOK4,GPR114,GPR56,GPR97,POLR2C MS10311 nsv906726 16 56066665 56126948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580916 S 6533 0 1 CCDC102A,DOK4 IS35484 nsv906727 16 56089134 56140712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573919 S 6533 0 1 CCDC102A,GPR114 IS33504 nsv906728 16 56089134 56184412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543689 S 6533 0 1 CCDC102A,GPR114 MS16153 esv28778 16 56127517 56128606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14482 S 451 0 1 CCDC102A NA19129 esv33007 16 56163417 56165527 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95932 S 51 0 1 GPR114 22127 nsv833246 16 56168629 56339281 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452783,nssv1452782,nssv1452784 M 95 0 3 CCDC135,GPR56,GPR97,KATNB1 esv259737 16 56235927 56236462 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398504,essv2397644,essv2401000,essv2395184 M 144 0 0 Samples from several populations that are part of the HapMap project. GPR56 NA11894,NA18502,NA19099,NA19108 nsv457490 16 56281253 56335164 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534671 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC135,KATNB1 HGDP00800 dgv58e180 16 56282842 56285336 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1007503,esv990802 M 3 0 1 "" HuRef nsv827684 16 56282842 56285336 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423801,nssv1434020,nssv1440693 M 31 0 3 "" NA18526,NA18564,NA18999 esv21517 16 56282886 56285606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9734 S 451 0 4 "" NA11894,NA12749,NA12828,NA12878 nsv514805 16 56283328 56285376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628257 S 1414 0 1 "" esv33209 16 56283390 56285348 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98864,essv93856,essv98289,essv97799,essv95960,essv93552,essv93325,essv92597,essv97743,essv100111,essv100573,essv100437,essv98435,essv96385 M 51 0 14 "" 21606,21634,21772,21837,22127,22128,22170,22233,22278,22286,22298,22300,22352,22371 esv2084703 16 56284993 56285440 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677136 S 1 0 1 "" NA18507 nsv103248 16 56285215 56285278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121826 M 24 "" nsv906729 16 56293023 56376436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538702 S 6533 0 1 CCDC135,KATNB1,KIFC3 MS13770 nsv525464 16 56305664 56424192 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701592 S 2026 1 0 CCDC135,KATNB1,KIFC3 nsv528250 16 56307105 56377610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704816 S 2026 0 1 CCDC135,KATNB1,KIFC3 nsv509622 16 56311517 56417889 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623697 S 4 1 0 CCDC135,KATNB1,KIFC3 NA18994 dgv2872n71 16 56314144 56357393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906730,nsv906731 M 6533 0 2 CCDC135,KATNB1,KIFC3 IS32322,IS39233 nsv471089 16 56314144 56379768 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545327,nssv545326 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC135,KATNB1,KIFC3 HGDP00302,HGDP00657 dgv2873n71 16 56321539 56376436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906735,nsv906733,nsv906736,nsv906732 M 6533 0 4 CCDC135,KATNB1,KIFC3 IS40799,IS41894,MS17208,MS18276 dgv2874n71 16 56321539 56405377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906734,nsv906737 M 6533 0 2 CCDC135,KATNB1,KIFC3 MS10311,MS16153 nsv103331 16 56336708 56336757 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121909 M 24 KATNB1 esv1720905 16 56336758 56336808 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134507 S 2 0 1 KATNB1 HuRef nsv103302 16 56336759 56336808 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121880 M 24 KATNB1 nsv817732 16 56344528 56351096 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417245 S 112 0 1 KATNB1,KIFC3 NA18577 nsv523237 16 56344528 56377610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698964 S 2026 0 1 KATNB1,KIFC3 nsv526855 16 56376436 56377610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703213 S 2026 0 1 KIFC3 nsv103820 16 56479835 56479835 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122398 M 24 CNGB1 dgv2875n71 16 56528366 56646525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906738,nsv906739 M 6533 0 2 C16orf57,CNGB1,MMP15,TEPP,ZNF319 MS10311,MS16153 nsv523659 16 56563770 56581841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699460 S 2026 0 1 TEPP nsv1816 16 56564857 56609576 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7254 S 9 0 1 C16orf57,TEPP,ZNF319 NA12156 esv29242 16 56591555 56592234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14311 S 451 0 1 "" NA19129 nsv827685 16 56604869 56610205 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424863 S 31 1 0 C16orf57 NA18969 esv1994917 16 56611755 56612105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589208 S 1 0 1 C16orf57 NA18507 nsv906740 16 56615965 56642671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510933 S 6533 0 1 MMP15 SP54988 esv29262 16 56617029 56618844 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14231 S 451 0 1 MMP15 NA19129 nsv906741 16 56623125 56638411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514302 S 6533 0 1 MMP15 SP55992 esv1602811 16 56657070 56657070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616805 S 2 1 0 "" HuRef esv2618354 16 56710895 56711908 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263614 S 1 1 0 C16orf80 NA18507 nsv819431 16 56752532 56753159 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419032 S 2 0 1 CSNK2A2 AK1 nsv457491 16 56764704 56825937 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534672 S 1557 0 1 CSNK2A2 1780862101_A esv23104 16 56788958 56789574 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10627 S 451 0 1 CSNK2A2 NA19129 esv6424 16 56848401 56848726 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28865 S 1 0 1 CCDC113 SJK esv28771 16 57020261 57020875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13714 S 451 0 1 "" NA18505 esv25662 16 57055143 57055928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13865 S 451 0 1 NDRG4 NA19129 nsv528512 16 57071314 57106515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705119 S 2026 0 1 NDRG4 nsv527052 16 57078591 57100402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703428 S 2026 0 1 NDRG4 dgv2876n71 16 57096057 57114843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906742,nsv906743 M 6533 0 2 CNOT1,NDRG4,SETD6 SP54956,SP55021 nsv827687 16 57131320 57132455 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434736 S 31 0 1 CNOT1 NA18570 dgv893e1 16 57136506 57433538 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5061,essv22916,essv24826,esv225,essv19221 M 271 0 0 CNOT1,GOT2,SLC38A7,SNORA46,SNORA50 NA07000,NA10838,NA12760,NA18576 nsv521338 16 57138020 57211339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697946 S 2026 0 1 CNOT1,SNORA46,SNORA50 esv2546975 16 57171984 57173425 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187055 S 1 0 1 CNOT1 NA18507 esv2032869 16 57172241 57172677 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923393 S 1 0 1 CNOT1 NA18507 esv4241 16 57172270 57172631 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26682 S 1 0 1 Single Asian sample YH CNOT1 YH nsv103597 16 57172379 57172465 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122175 M 24 CNOT1 esv2466145 16 57177270 57178227 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179775 S 1 1 0 CNOT1 NA18507 nsv511049 16 57184276 57323395 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621638 S 4 0 0 CNOT1,GOT2,SLC38A7 NA15510 nsv507819 16 57191895 57197895 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617912,nssv619170 M 4 2 0 CNOT1 CHM,NA10860 esv33503 16 57199190 57199231 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93760 S 51 0 1 CNOT1 21972 nsv509623 16 57203620 57323395 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623698 S 4 1 0 CNOT1,GOT2,SLC38A7 NA18994 nsv510686 16 57203620 57323395 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618937 S 4 0 1 CNOT1,GOT2,SLC38A7 NA10860 esv2614548 16 57203855 57208324 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354704 S 1 0 1 CNOT1 NA18507 nsv9448 16 57204170 57208233 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23850,nssv23213,nssv26695,nssv23354,nssv23117,nssv22464,nssv23672,nssv26411,nssv25822,nssv24507,nssv22566,nssv25362,nssv22562,nssv26633,nssv24437,nssv27043,nssv20620,nssv25013,nssv26471,nssv23522,nssv23624,nssv23018,nssv23827,nssv20599,nssv23756,nssv21682,nssv24218,nssv28115 M 31 28 0 Samples from several populations that are part of the HapMap project. CNOT1 NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv512440 16 57204399 57207806 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625034 S 1 0 1 CNOT1 1 nsv819144 16 57204513 57207559 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419500 S 2 1 0 CNOT1 AK1 dgv482n67 16 57204600 57207297 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827688,nsv827689 M 31 0 13 CNOT1 AK12,AK16,AK2,AK20,AK4,NA18537,NA18947,NA18949,NA18968,NA18969,NA18973,NA18997,NA18999 dgv59e180 16 57204600 57207297 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv992485,esv991509 M 3 1 0 CNOT1 HuRef nsv821034 16 57204600 57207297 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419887 S 1 0 1 CNOT1 NA10851 nsv103378 16 57204692 57207765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121956 M 24 CNOT1 esv24929 16 57204759 57207180 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11692 S 451 35 0 CNOT1 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514806 16 57204800 57207156 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628259 S 1414 0 1 CNOT1 esv32972 16 57204829 57207991 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101501,essv101206,essv93803,essv94803,essv101413,essv94318,essv97877,essv95590,essv95264,essv101625,essv98970,essv92800,essv93784,essv96221,essv96704,essv97238,essv99818,essv95970,essv94962,essv92547,essv99237,essv100198,essv99373,essv98508,essv94174 M 51 12 13 CNOT1 21603,21618,21634,21791,21805,21808,21837,21841,21872,21909,21938,21944,21972,22007,22011,22075,22086,22127,22231,22233,22275,22286,22335,22352,22394 nsv528513 16 57230264 57275375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705120 S 2026 0 1 SLC38A7 esv33099 16 57230273 57233686 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96779,essv94812,essv95700,essv95269,essv96076,essv93515,essv94867,essv92655,essv99248,essv100384 M 51 10 0 "" 21659,21791,21841,21872,22127,22128,22231,22233,22275,22300 nsv9449 16 57230452 57235664 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23854,nssv25387,nssv22592,nssv21712,nssv23652,nssv23877 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA12740,NA18537,NA18942,NA19240 esv992743 16 57230461 57234816 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564215 S 3 0 1 "" HuRef esv23419 16 57231107 57233858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13779 S 451 0 7 "" NA11995,NA12004,NA12006,NA12287,NA15510,NA19108,NA19240 dgv483n67 16 57232121 57234031 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827690,nsv827691 M 31 0 11 "" AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18552,NA18942,NA18947,NA18997,NA18999 nsv514807 16 57232320 57233804 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628260 S 1414 0 1 "" esv1039184 16 57302148 57302234 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267088 S 2 0 1 GOT2 HuRef nsv1817 16 57320019 57350992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6672 S 9 1 0 GOT2 NA12156 nsv906744 16 57344896 58683286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559260 S 6533 0 1 LOC644649 MS23798 esv1421905 16 57358411 57358467 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364761 S 2 0 1 "" HuRef nsv1818 16 57363489 57372424 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9530 S 9 1 0 "" NA18507 nsv520998 16 57365043 57391720 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689665,nssv679618 M 2026 2 0 "" nsv9450 16 57403711 57405707 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26426 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 esv1007638 16 57412450 57415371 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563980 S 3 1 0 "" HuRef nsv522382 16 57422523 57428780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695162 S 2026 0 1 "" esv2437938 16 57425115 57426439 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219807 S 1 0 1 "" NA18507 esv6611 16 57458569 57459816 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29052 S 1 0 0 "" SJK nsv827692 16 57497878 57560798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425085 S 31 0 1 "" NA18969 esv3559 16 57503245 57511892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26000 S 1 0 1 Single Asian sample YH "" YH esv24782 16 57503291 57510574 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20502,esv11718 M 451 0 5 "" NA06985,NA18508,NA19099,NA19114,NA19190 esv6934 16 57503291 57511735 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29375 S 1 0 1 "" SJK nsv827693 16 57503846 57505861 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434022,nssv1428684,nssv1425361,nssv1437070 M 31 0 4 "" AK10,AK2,NA18526,NA18542 nsv523137 16 57535751 57598734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698842 S 2026 0 1 "" nsv526025 16 57568002 57577943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702255 S 2026 1 0 "" esv2436385 16 57594834 57596266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378909 S 1 0 1 "" NA18507 esv2375105 16 57595227 57595702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890915 S 1 0 1 "" NA18507 esv1001584 16 57595356 57595480 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577589 S 3 0 1 "" HuRef nsv1819 16 57602586 57632359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7255 S 9 0 1 "" NA12156 esv2251619 16 57645687 57646074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627046 S 1 0 1 "" NA18507 esv1001053 16 57645879 57645933 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580943 S 3 0 1 "" HuRef esv1611123 16 57645879 57645935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894100 S 2 0 1 "" HuRef nsv833247 16 57689699 57851028 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452785 S 95 0 1 "" nsv528943 16 57735040 57739076 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705634 S 2026 0 1 "" nsv827694 16 57747177 57747786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430606,nssv1432473 M 31 0 2 "" AK20,NA18947 nsv833249 16 57840451 58018524 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452786 S 95 1 0 "" dgv2877n71 16 57880526 57981483 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906745,nsv906746 M 6533 0 3 "" IS35018,MS20813,MS21249 nsv906747 16 57943333 58729531 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533709 S 6533 1 0 LOC644649 MS11284 esv2074867 16 57987898 57988336 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885222 S 1 0 1 "" NA18507 nsv906748 16 58021532 58096684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583012 S 6533 0 1 "" IS36219 esv25380 16 58026450 58028846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21112 S 451 0 1 "" NA18505 esv1000791 16 58048566 58055478 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564097 S 3 0 1 "" HuRef esv269703 16 58069198 58069531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542236,essv2536635,essv2523421,essv2535312 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA11920,NA12004,NA12249 esv24509 16 58107125 58113709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14820 S 451 0 1 "" NA19129 nsv827695 16 58174583 58258374 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425196 S 31 0 1 "" NA18969 nsv9451 16 58192741 58590342 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22494 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC644649 NA18975 esv2422221 16 58195603 58409144 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161563 S 181 0 1 LOC644649 ND04274 esv1000855 16 58254730 58254730 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568887 S 3 1 0 "" HuRef esv1066493 16 58254731 58254731 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247738 S 2 1 0 "" HuRef nsv103210 16 58254732 58254732 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121788 M 24 "" esv2595859 16 58300080 58301524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317332 S 1 0 1 "" NA18507 nsv507820 16 58342343 58348343 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617913,nssv623213 M 4 2 0 LOC644649 CHM,NA18994 nsv906749 16 58343521 58434807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578569 S 6533 0 1 LOC644649 IS34805 nsv1820 16 58361199 58370424 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6673 S 9 0 1 "" NA12156 nsv512441 16 58363524 58366732 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625035 S 1 0 1 "" 1 esv2560823 16 58365294 58366989 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320190 S 1 0 1 "" NA18507 esv1330545 16 58365828 58365936 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092343 S 2 0 1 "" HuRef esv1551436 16 58366065 58366268 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678959 S 2 0 1 "" HuRef nsv523260 16 58388338 58473742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698994 S 2026 0 1 "" nsv906750 16 58448199 58547299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561741 S 6533 0 1 "" MS25205 esv269438 16 58533938 58534023 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515576 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 esv2466850 16 58589083 58590833 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236169 S 1 0 1 "" NA18507 esv2407573 16 58589397 58590101 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622021 S 1 0 1 "" NA18507 esv1494503 16 58589594 58589908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784630 S 2 0 1 "" HuRef esv6343 16 58589595 58589897 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28784 S 1 0 1 "" SJK esv2613829 16 58598097 58598972 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254720 S 1 1 0 "" NA18507 esv268873 16 58598626 58598965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519209,essv2517460,essv2516952,essv2514108,essv2514737,essv2515340,essv2518632,essv2515057,essv2516006,essv2517859,essv2513971,essv2519394 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11918,NA11931,NA12043,NA12234,NA12249,NA12287,NA12812,NA12873,NA12878,NA19143 esv272541 16 58598626 58598965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581341 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1689980 16 58598663 58598663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916381 S 2 1 0 "" HuRef nsv103575 16 58620189 58620428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122153 M 24 "" dgv351n27 16 58626771 58706315 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457493,nsv457492 M 1557 0 2 "" HGDP00109,NINDS_212 nsv827696 16 58638615 58655619 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422992,nssv1425307 M 31 0 2 "" NA18552,NA18969 nsv819659 16 58638645 58658275 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418679 S 2 0 1 "" AK1 nsv514808 16 58640092 58654488 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628261 S 1414 0 1 "" nsv442399 16 58640103 58654487 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421333 16 58640107 58654487 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142474,essv5016211,essv5109511,essv5111734,essv5112220,essv5089571,essv5026503,essv5018583,essv5047550,essv5017407,essv5014065,essv5087154,essv5142530,essv5070050,essv5002042,essv5021224,essv5007951,essv5132332,essv5026566,essv5152488,essv5040030,essv5039785,essv5006633,essv5113209,essv5069357,essv5068493,essv5004894,essv5083701,essv5128180 M 1184 0 29 "" NA17977,NA17998,NA18117,NA18118,NA18120,NA18133,NA18529,NA18544,NA18552,NA18619,NA18643,NA18757,NA18965,NA18969,NA19055,NA19064,NA19086,NA19625,NA19716,NA19720,NA19721,NA19770,NA19772,NA19776,NA19778,NA19782,NA19783,NA19784,NA20887 nsv521209 16 58644831 58652880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688201,nssv685178 M 2026 0 2 "" nsv833250 16 58774974 58934881 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452787 S 95 0 1 "" nsv103711 16 58994522 58996802 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122289 M 24 "" esv1195564 16 58997733 58997803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124110 S 2 0 1 "" HuRef esv1727984 16 58997928 58997928 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174421 S 2 1 0 "" HuRef nsv906751 16 59020911 59068132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580235 S 6533 0 1 "" IS35244 esv21848 16 59024211 59024873 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19057 S 451 0 4 "" NA12414,NA19108,NA19240,NA19257 nsv833251 16 59038955 59186708 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452788 S 95 1 0 "" nsv833252 16 59218254 59401751 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452789 S 95 0 1 "" dgv2878n71 16 59218347 59289032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906752,nsv906753 M 6533 0 2 "" MS10203,MS25976 nsv1822 16 59220591 59254728 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7256 S 9 1 0 "" NA12156 nsv906754 16 59235686 59332701 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536275 S 6533 1 0 "" MS12674 nsv833253 16 59300869 59479079 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452794,nssv1452793,nssv1452792,nssv1452791,nssv1452790 M 95 3 2 "" nsv1823 16 59302878 59347810 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7257 S 9 0 1 "" NA12156 nsv457494 16 59314368 59353942 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534675 S 1557 0 1 "" 1782681096_A nsv507821 16 59331696 59337696 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623214,nssv620607 M 4 2 0 "" NA15510,NA18994 nsv906755 16 59370002 59580586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503168 S 6533 0 1 "" SP51494 esv2632689 16 59394671 59396217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358178 S 1 0 1 "" NA18507 esv988304 16 59432223 59432357 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571934 S 3 0 1 "" HuRef esv1980518 16 59438620 59439045 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765741 S 1 0 1 "" NA18507 nsv906756 16 59460324 61730760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588936 S 6533 0 1 CDH8 IS38268 nsv510687 16 59465773 59473174 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618938 S 4 0 1 "" NA10860 esv992849 16 59466846 59473253 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564535 S 3 0 1 "" HuRef esv2495897 16 59467044 59472076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256891 S 1 0 1 "" NA18507 esv2161190 16 59467348 59471618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902735 S 1 0 1 "" NA18507 esv2148231 16 59476207 59476736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501624 S 1 0 1 "" NA18507 esv275094 16 59488409 59492269 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585837,essv2585709 M 1250 1 1 "" esv272806 16 59649674 59650016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580487,essv2579040 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239 esv269978 16 59649675 59650013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557925,essv2546620,essv2526277,essv2542600,essv2536446,essv2543801,essv2531814,essv2554329,essv2544461,essv2520469,essv2558588,essv2578005,essv2553728,essv2559634,essv2576431,essv2520028,essv2540033,essv2556912,essv2569372,essv2562809,essv2523872,essv2538341,essv2540309,essv2534921,essv2560978,essv2519844,essv2522111,essv2566191,essv2532770,essv2567777,essv2528932,essv2567307,essv2541619,essv2570028,essv2553288,essv2572276,essv2559238,essv2542183,essv2551077,essv2527980,essv2562341,essv2533562,essv2555764,essv2566582,essv2573891,essv2527536,essv2555814,essv2573584,essv2543368,essv2576963,essv2572101,essv2526548,essv2560870,essv2574947,essv2530440,essv2568550,essv2549969,essv2571331,essv2574429,essv2538059,essv2548748,essv2533159,essv2554395,essv2525135 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11881,NA11918,NA11919,NA11920,NA11992,NA12006,NA12287,NA12414,NA12716,NA12750,NA12761,NA12763,NA12776,NA12814,NA12815,NA18489,NA18501,NA18508,NA18532,NA18537,NA18547,NA18552,NA18561,NA18562,NA18566,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18638,NA18856,NA18858,NA18907,NA18909,NA18944,NA18945,NA18948,NA18951,NA18952,NA18956,NA18964,NA18965,NA18970,NA18973,NA19114,NA19137,NA19138,NA19141,NA19147,NA19225,NA19238,NA19240 nsv510688 16 59662035 59666401 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622709 S 4 0 1 "" NA18994 nsv833254 16 59673241 59825239 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452796,nssv1452795,nssv1452797 M 95 2 1 "" nsv457498 16 59681209 59724757 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534677 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01076 nsv457499 16 59681699 59761358 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534678 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00153 nsv906757 16 59714606 59769247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518185 S 6533 0 1 "" SP57469 nsv471090 16 59739843 59876707 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545328 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00649 nsv833255 16 59936250 60093791 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452798 S 95 1 0 "" esv4219 16 60010071 60010583 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26660 S 1 0 1 Single Asian sample YH "" YH esv2121732 16 60010104 60010615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596372 S 1 0 1 "" NA18507 esv2440971 16 60016695 60018197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383973 S 1 0 1 "" NA18507 nsv1824 16 60120696 60145151 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9531 S 9 1 0 "" NA18507 nsv833256 16 60150199 60328182 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452799 S 95 1 0 CDH8 nsv817733 16 60358369 60382024 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417939 S 112 1 0 CDH8 NA18852 nsv507822 16 60398361 60404361 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617914 S 4 1 0 CDH8 CHM nsv906758 16 60421266 60553784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575418 S 6533 0 1 CDH8 IS33738 esv2353108 16 60493191 60493641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550829 S 1 0 1 CDH8 NA18507 nsv457500 16 60579381 60640616 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534679 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH8 HGDP00007 esv2593208 16 60603946 60605424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232550 S 1 0 1 CDH8 NA18507 esv1995444 16 60604184 60604884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945320 S 1 0 1 CDH8 NA18507 esv5221 16 60604279 60604848 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27662 S 1 0 1 Single Asian sample YH CDH8 YH nsv103700 16 60604363 60604695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122278 M 24 CDH8 esv6216 16 60604381 60604702 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28657 S 1 0 1 CDH8 SJK nsv827699 16 60626498 60627405 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432475 S 31 0 1 CDH8 AK20 nsv827700 16 60626979 60627431 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427888 S 31 0 1 CDH8 AK8 esv2539910 16 60741635 60744703 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390516 S 1 0 1 "" NA18507 nsv527799 16 60761403 60762679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704292 S 2026 0 1 "" esv24270 16 60796745 60797418 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12155 S 451 2 0 "" NA12489,NA12828 esv2635325 16 60862882 60864428 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331721 S 1 0 1 "" NA18507 nsv528840 16 60886020 60895662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705517 S 2026 0 1 "" dgv2879n71 16 60886020 60944750 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906759,nsv906760 M 6533 3 0 "" MS11934,MS12130,MS16521 nsv1825 16 60937490 60964468 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7258 S 9 0 1 "" NA12156 nsv906761 16 60978689 61125373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581657 S 6533 0 1 "" IS35675 nsv906762 16 61044590 61224753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582238 S 6533 0 1 "" IS35867 nsv1826 16 61071571 61117182 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6675,nssv5606,nssv4217 M 9 0 3 "" NA12156,NA12878,NA19129 nsv510689 16 61085213 61113638 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620090 S 4 0 1 "" NA15510 dgv19n50 16 61101389 61108268 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512442,nsv511578 M 1 0 1 "" 1 dgv484n67 16 61101779 61108101 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827702,nsv827701 M 31 0 12 "" AK10,AK16,AK20,AK6,NA18526,NA18542,NA18566,NA18582,NA18592,NA18972,NA18973,NA18997 nsv498864 16 61101834 61108170 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585725 S 9 0 1 "" esv27650 16 61101872 61108164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16610 S 451 0 7 "" NA12156,NA12749,NA12878,NA15510,NA18907,NA19099,NA19129 nsv521476 16 61111714 61116069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698088 S 2026 0 1 "" nsv1827 16 61165340 61210704 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6676 S 9 0 1 "" NA12156 nsv833257 16 61223623 61403177 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452800 S 95 1 0 "" nsv906763 16 61335863 61430021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525992 S 6533 0 1 "" SP56914 nsv906764 16 61335863 61461523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589643 S 6533 1 0 "" IS38390 esv2388750 16 61354567 61354940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677846 S 1 0 1 "" NA18507 esv2518166 16 61373995 61375549 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248765 S 1 0 1 "" NA18507 dgv2880n71 16 61482926 61933305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906765,nsv906767,nsv906766 M 6533 0 3 "" IS32517,IS40665,IS41832 esv272594 16 61566583 61566668 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581086 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1263358 16 61575924 61575988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182850 S 2 0 1 "" HuRef nsv457502 16 61611059 61678146 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534680 S 1557 0 1 "" 1780862001_A esv1006199 16 61621368 61621368 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585326 S 3 1 0 "" HuRef esv1070556 16 61621369 61621369 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190104 S 2 1 0 "" HuRef nsv906768 16 61633911 61688450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597760 S 6533 0 1 "" IS41113 nsv457506 16 61635272 61678146 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534681 S 1557 0 1 "" 1798860084_A nsv457508 16 61635272 61751400 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534682 S 1557 0 1 "" NINDS_130 esv987547 16 61737703 61738170 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586884 S 3 0 1 "" HuRef esv23387 16 61774095 61780771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18900 S 451 0 1 "" NA19108 nsv524417 16 61775362 61787984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700343 S 2026 0 1 "" nsv521142 16 61839581 61960443 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685839,nssv682878,nssv692374 M 2026 3 0 "" nsv906769 16 61897171 61919879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500775 S 6533 0 1 "" SP51132 nsv833258 16 61914237 62103285 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452801 S 95 1 0 "" nsv1828 16 61924339 61969205 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7259 S 9 0 1 "" NA12156 nsv521466 16 61986281 62033825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698077 S 2026 0 1 "" esv2454273 16 61999114 62000665 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267557 S 1 0 1 "" NA18507 esv2220162 16 61999730 62000455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729695 S 1 0 1 "" NA18507 esv3631 16 61999881 62000348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26072 S 1 0 1 Single Asian sample YH "" YH esv997107 16 61999924 62000253 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567725 S 3 0 1 "" HuRef esv1428682 16 61999941 62000271 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619211 S 2 0 1 "" HuRef esv8913 16 61999943 62000263 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31354 S 1 0 1 "" SJK nsv457509 16 62062832 62106071 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534683 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00766 nsv519865 16 62083717 62169099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659158,nssv661226,nssv704228 M 2026 0 3 "" nsv819465 16 62094160 62106840 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418635 S 2 1 0 "" AK1 esv2222236 16 62114629 62114976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809205 S 1 0 1 "" NA18507 esv6712 16 62122666 62122751 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29153 S 1 1 0 "" SJK esv2570241 16 62175342 62176807 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185344 S 1 0 1 "" NA18507 nsv436220 16 62200362 62207615 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465574 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv1829 16 62213442 62257672 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2144 S 9 0 1 "" NA18555 esv1004975 16 62241843 62242648 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580297 S 3 0 1 "" HuRef esv1314394 16 62313810 62313892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071233 S 2 0 1 "" HuRef nsv525656 16 62339132 62341057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701811 S 2026 0 1 "" nsv525019 16 62360994 62372315 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701058 S 2026 1 0 "" nsv906770 16 62384830 62493187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585329 S 6533 0 1 "" IS37422 nsv507823 16 62587711 62593711 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619171 S 4 1 0 "" NA10860 nsv1830 16 62591051 62606391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1308 S 9 1 0 "" NA19240 nsv827703 16 62597499 62599591 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425418 S 31 0 1 "" NA18969 nsv820306 16 62605856 62612148 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419764 S 2 1 0 "" AK1 nsv516354 16 62630101 62664548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655097,nssv680262,nssv689577,nssv682288,nssv667746,nssv690039,nssv685455,nssv674557,nssv677672,nssv684438,nssv659776,nssv684224,nssv676176,nssv684047,nssv661877,nssv682059,nssv686763,nssv694162 M 2026 0 18 "" nsv817734 16 62633247 62664548 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418321,nssv1416681,nssv1418322 M 112 0 3 "" NA19093,NA19094,NA19119 nsv442401 16 62636133 62671716 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514809 16 62638484 62671424 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628262 S 1414 0 1 "" essv12913 16 62639947 62685365 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19094 dgv894e1 16 62639947 62714192 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8405,essv14839,esv1161 M 271 0 0 "" NA19093,NA19119 dgv2881n71 16 62642930 62763244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906774,nsv906773,nsv906771 M 6533 0 4 "" IS33747,IS38207,IS41964,MS22677 nsv906772 16 62664548 62724486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577834 S 6533 0 1 "" IS34573 nsv457511 16 62676270 62718232 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534684 S 1557 0 1 "" 1782681086_A esv267583 16 62690526 62690813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2561551,essv2543752,essv2556218,essv2575099,essv2530205 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18870,NA18871,NA19102,NA19141 nsv527198 16 62690674 62696633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703597 S 2026 0 1 "" nsv519120 16 62696633 62704590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696596 S 2026 0 1 "" esv270892 16 62731028 62731392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503229,essv2496705,essv2510531,essv2509724,essv2493572,essv2498363,essv2494605,essv2497188,essv2508276,essv2507688,essv2499282,essv2497933,essv2502367,essv2512387,essv2505460,essv2509375,essv2496015,essv2512828,essv2503905,essv2513039 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11881,NA11894,NA18501,NA18508,NA18517,NA18526,NA18550,NA18552,NA18561,NA18576,NA18605,NA18945,NA18948,NA18949,NA18952,NA18953,NA18961,NA18980 esv2519143 16 62756882 62757849 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208861 S 1 1 0 "" NA18507 esv1657143 16 62757398 62757398 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599591 S 2 1 0 "" HuRef esv2588281 16 62797102 62798180 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284226 S 1 1 0 "" NA18507 nsv471091 16 62839110 62930114 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545329 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01285 nsv906775 16 62844775 62978725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567261 S 6533 0 1 "" IS31063 nsv827704 16 63031495 63091095 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425529 S 31 0 1 "" NA18969 esv25463 16 63146796 63148346 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13698 S 451 0 8 "" NA18505,NA18523,NA18861,NA18907,NA18916,NA19099,NA19108,NA19147 nsv457512 16 63444855 63492934 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534685 S 1557 0 1 "" 1780854464_A nsv833260 16 63608148 63776260 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452802,nssv1452803 M 95 0 2 CDH11 nsv1831 16 63629477 63663606 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2145 S 9 0 1 CDH11 NA18555 esv34131 16 63694595 63936997 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CDH11,LOC283867 esv1477708 16 63719794 63719866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186350 S 2 0 1 "" HuRef nsv509625 16 63719954 63738033 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619692,nssv621027 M 4 2 0 "" NA10860,NA15510 esv1066360 16 63720527 63720527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887035 S 2 1 0 "" HuRef nsv522506 16 63739456 63740059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705874 S 2026 0 1 "" nsv525526 16 63815392 63865522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701661 S 2026 0 1 "" dgv2882n71 16 63815392 63872676 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906776,nsv906777 M 6533 0 2 "" MS10109,SP53719 esv23569 16 63843950 63844975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11183 S 451 0 1 "" NA18858 nsv520064 16 63844371 63844889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660370,nssv661227 M 2026 0 2 "" nsv525489 16 63844371 63897395 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701620 S 2026 1 0 LOC283867 esv273216 16 63863468 63863763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581550 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1073377 16 63913816 63913816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750176 S 2 1 0 LOC283867 HuRef nsv1833 16 63916434 63961301 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7260 S 9 0 1 LOC283867 NA12156 dgv2883n71 16 63964209 64098300 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906778,nsv906779 M 6533 2 0 LOC283867 SP54853,SP57640 dgv2884n71 16 63964209 64165032 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906780,nsv906781 M 6533 2 0 LOC283867 SP50857,SP56116 nsv833261 16 63973728 64146306 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452810,nssv1452808,nssv1452807,nssv1452805,nssv1452806,nssv1452804,nssv1452811,nssv1452815,nssv1452809,nssv1452814,nssv1452813,nssv1452812,nssv1452816,nssv1452817,nssv1452820,nssv1452819,nssv1452818 M 95 0 17 LOC283867 esv267387 16 64036417 64036502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519345 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC283867 NA07346 nsv906782 16 64037238 64167205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539996 S 6533 1 0 LOC283867 MS14639 esv268723 16 64039670 64040001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576010,essv2540705,essv2571715,essv2546413,essv2521431,essv2536430,essv2522818,essv2544040,essv2570764,essv2556659,essv2568255,essv2545706,essv2523155,essv2577413,essv2548384,essv2521681,essv2576832,essv2550442,essv2535103,essv2554229,essv2544394,essv2552141,essv2547286,essv2529080,essv2558458,essv2577751,essv2553526,essv2565230,essv2520139,essv2528392,essv2540184,essv2557200,essv2552524,essv2551737,essv2532328,essv2562706,essv2569276,essv2578617,essv2550034,essv2558729,essv2536999,essv2539115,essv2527080,essv2561619,essv2542739,essv2524587,essv2539733,essv2549321,essv2566274,essv2531127,essv2532688,essv2567661,essv2566764,essv2568921,essv2543600,essv2528059,essv2562498,essv2533947,essv2567232,essv2529882,essv2573970,essv2573740,essv2529760,essv2575551,essv2538548,essv2526666,essv2560541,essv2524041,essv2568541,essv2545074,essv2560385,essv2548124,essv2549635,essv2571237,essv2546062,essv2574087,essv2551643,essv2537820,essv2548876,essv2533183,essv2554498,essv2547810,essv2563260,essv2558188 M 157 84 0 Samples from several populations that are part of the HapMap project. LOC283867 NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12045,NA12144,NA12154,NA12234,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12815,NA12891,NA18489,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18550,NA18555,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18853,NA18861,NA18870,NA18907,NA18909,NA18916,NA18947,NA18949,NA18951,NA18964,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv274287 16 64039675 64040004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582606,essv2583900,essv2584523,essv2583851 M 7 4 0 Samples from several populations that are part of the HapMap project. LOC283867 NA12891,NA19238,NA19239,NA19240 nsv103728 16 64039689 64039689 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122306 M 24 LOC283867 nsv525465 16 64097923 64107063 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701593 S 2026 1 0 LOC283867 esv1256190 16 64128482 64128538 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180602 S 2 0 1 LOC283867 HuRef nsv525341 16 64249982 64252852 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701459 S 2026 1 0 "" esv9052 16 64274546 64274653 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31493 S 1 1 0 "" SJK nsv522851 16 64392614 64398663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698505 S 2026 0 1 "" esv1018485 16 64397717 64397717 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872228 S 2 1 0 "" HuRef nsv833262 16 64407359 64573732 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452821 S 95 1 0 "" nsv1834 16 64446819 64448584 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1310 S 9 1 0 "" NA19240 nsv906783 16 64458638 64489834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508871 S 6533 0 1 "" SP54559 nsv516537 16 64461307 64462508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663643,nssv668986 M 2026 0 2 "" esv271092 16 64468967 64473137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512521,essv2496345,essv2507421,essv2499032,essv2510813,essv2501953,essv2498004 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18912,NA19114,NA19116,NA19239,NA19240 esv274415 16 64468992 64473142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580158,essv2580400 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv268273 16 64502819 64503135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496830,essv2494981,essv2513303,essv2502176 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18520,NA18907,NA19257 nsv1835 16 64572910 64598247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10092 S 9 1 0 "" NA18956 nsv528159 16 64575973 64585989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704707 S 2026 0 1 "" nsv833263 16 64588814 64799644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452822 S 95 0 1 "" esv275338 16 64608419 64612210 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585460,essv2585254 M 1250 1 1 "" nsv1836 16 64707553 64740888 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1311 S 9 1 0 "" NA19240 nsv524590 16 64796836 64801256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700549 S 2026 0 1 "" esv259428 16 64880146 64880501 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393635,essv2394004,essv2394291 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259959 16 64880172 64880523 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399623,essv2395627,essv2396597,essv2399260,essv2396136,essv2394692,essv2398248,essv2394905,essv2400986,essv2395185,essv2394851,essv2399514,essv2398021,essv2395961,essv2397089,essv2400492 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12761,NA18501,NA18507,NA18508,NA18523,NA18870,NA18909,NA18942,NA19099,NA19108,NA19114,NA19137,NA19147,NA19238,NA19239,NA19240 nsv833264 16 64890096 65062473 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452823,nssv1452828,nssv1452827,nssv1452826,nssv1452824,nssv1452825 M 95 6 0 BEAN1,CDH5 nsv906784 16 64918330 64960016 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555690 S 6533 1 0 CDH5 MS21515 nsv1837 16 64919562 64953320 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4218 S 9 1 0 "" NA12878 esv2468646 16 64970916 64972338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363226 S 1 0 1 CDH5 NA18507 esv4828 16 64971239 64971784 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27269 S 1 0 1 Single Asian sample YH CDH5 YH nsv906785 16 65009535 65157980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563899 S 6533 0 1 BEAN1,CKLF,CKLF-CMTM1,CMTM1,TK2 IS30127 nsv1838 16 65011521 65045209 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7261 S 9 1 0 BEAN1 NA12156 nsv827705 16 65021919 65023024 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425751 S 31 1 0 BEAN1 NA18969 nsv906786 16 65036953 65360598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556444 S 6533 0 1 BEAN1,CCDC79,CKLF,CKLF-CMTM1,CMTM1,CMTM2,CMTM3,CMTM4,DYNC1LI2,TK2 MS22008 nsv1839 16 65093251 65128488 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1312 S 9 1 0 TK2 NA19240 nsv906787 16 65151293 65166301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513245,nssv1508484 M 6533 2 0 CKLF,CKLF-CMTM1,CMTM1 SP54652,SP55698 esv27090 16 65293885 65296309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11796 S 451 0 5 "" NA18916,NA19108,NA19147,NA19190,NA19240 dgv2885n71 16 65323086 65916317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906789,nsv906788,nsv906790 M 6533 0 3 B3GNT9,C16orf70,CA7,CBFB,CCDC79,CDH16,CES2,CES3,CES4A,DYNC1LI2,E2F4,ELMO3,EXOC3L1,FAM96B,FBXL8,FHOD1,HSF4,KCTD19,KIAA0895L,LRRC29,MIR328,NAE1,NOL3,PDP2,PLEKHG4,RRAD,SLC9A5,TMEM208,TRADD IS37646,MS10311,MS17208 esv1727322 16 65351838 65352491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629774 S 2 0 1 CCDC79 HuRef esv2579855 16 65380311 65381846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358154 S 1 0 1 CCDC79 NA18507 esv1974003 16 65380521 65381235 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752834 S 1 0 1 CCDC79 NA18507 nsv103310 16 65380695 65381028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121888 M 24 CCDC79 esv8216 16 65380706 65381030 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30657 S 1 0 1 CCDC79 SJK esv1025546 16 65380706 65381040 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074722 S 2 0 1 CCDC79 HuRef nsv819809 16 65394536 65401864 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419823 S 2 0 1 NAE1 AK1 nsv510690 16 65408689 65449685 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622710 S 4 0 1 CA7,NAE1 NA18994 nsv827706 16 65485758 65601018 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432477 S 31 0 1 CDH16,CES2,CES3,CES4A,FAM96B,RRAD AK20 nsv906791 16 65491654 65556871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572682 S 6533 0 1 CDH16,CES2,CES3,FAM96B,RRAD IS33162 nsv906792 16 65509284 65609548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549894 S 6533 0 1 CDH16,CES2,CES3,CES4A,FAM96B,RRAD MS18276 nsv509626 16 65574766 65635408 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621028 S 4 1 0 CBFB,CES4A NA15510 nsv906793 16 65585509 65629835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510141 S 6533 0 1 CBFB,CES4A SP54956 nsv1840 16 65598250 65632953 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4219 S 9 1 0 CBFB,CES4A NA12878 nsv516064 16 65631053 65682565 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683506,nssv673651,nssv665949,nssv660991 M 2026 4 0 CBFB nsv906794 16 65649980 65817164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531980 S 6533 0 1 B3GNT9,C16orf70,CBFB,E2F4,ELMO3,EXOC3L1,FBXL8,HSF4,KIAA0895L,LRRC29,MIR328,NOL3,TRADD MS10698 nsv509627 16 65669197 65705732 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621029 S 4 1 0 C16orf70,CBFB NA15510 esv988966 16 65679472 65679985 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564347 S 3 1 0 CBFB HuRef dgv2886n71 16 65682565 65916317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906796,nsv906795 M 6533 0 2 B3GNT9,C16orf70,CBFB,E2F4,ELMO3,EXOC3L1,FBXL8,FHOD1,HSF4,KCTD19,KIAA0895L,LRRC29,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208,TRADD IS33684,IS35484 dgv2887n71 16 65727933 65817164 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906797,nsv906801,nsv906802 M 6533 0 9 B3GNT9,C16orf70,E2F4,ELMO3,EXOC3L1,FBXL8,HSF4,KIAA0895L,LRRC29,MIR328,NOL3,TRADD IS32737,IS34005,IS34057,IS34235,IS39417,MS16315,MS17522,SP54956,SP54988 dgv2888n71 16 65727933 65880358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906798,nsv906800,nsv906799 M 6533 0 4 B3GNT9,C16orf70,E2F4,ELMO3,EXOC3L1,FBXL8,FHOD1,HSF4,KIAA0895L,LRRC29,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208,TRADD IS30369,IS37172,IS39233,MS18276 nsv524363 16 65727933 66662975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700274 S 2026 0 1 ACD,AGRP,ATP6V0D1,B3GNT9,C16orf48,C16orf70,C16orf86,CENPT,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,E2F4,EDC4,ELMO3,EXOC3L1,FAM65A,FBXL8,FHOD1,GFOD2,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LRRC29,LRRC36,MIR328,NOL3,NRN1L,NUTF2,PARD6A,PLEKHG4,PSKH1,PSMB10,RANBP10,RLTPR,SLC12A4,SLC9A5,THAP11,TMEM208,TPPP3,TRADD,TSNAXIP1,ZDHHC1 nsv827707 16 65739759 65880700 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432478 S 31 0 1 B3GNT9,C16orf70,E2F4,ELMO3,EXOC3L1,FBXL8,FHOD1,HSF4,KIAA0895L,LRRC29,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208,TRADD AK20 nsv906803 16 65744712 65916317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543692 S 6533 0 1 E2F4,ELMO3,EXOC3L1,FBXL8,FHOD1,HSF4,KCTD19,KIAA0895L,LRRC29,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208,TRADD MS16153 nsv522852 16 65744712 66662975 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698506 S 2026 1 0 ACD,AGRP,ATP6V0D1,C16orf48,C16orf86,CENPT,CTCF,CTRL,DDX28,DPEP2,DPEP3,DUS2L,E2F4,EDC4,ELMO3,EXOC3L1,FAM65A,FBXL8,FHOD1,GFOD2,HSD11B2,HSF4,KCTD19,KIAA0895L,LCAT,LRRC29,LRRC36,MIR328,NOL3,NRN1L,NUTF2,PARD6A,PLEKHG4,PSKH1,PSMB10,RANBP10,RLTPR,SLC12A4,SLC9A5,THAP11,TMEM208,TPPP3,TRADD,TSNAXIP1,ZDHHC1 nsv524492 16 65765434 65885954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700430 S 2026 0 1 E2F4,ELMO3,EXOC3L1,FHOD1,KCTD19,KIAA0895L,LRRC29,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208 nsv471092 16 65765434 66109796 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545330 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGRP,ATP6V0D1,E2F4,ELMO3,EXOC3L1,FHOD1,HSD11B2,KCTD19,KIAA0895L,LRRC29,LRRC36,MIR328,NOL3,PLEKHG4,SLC9A5,TMEM208,TPPP3,ZDHHC1 HGDP00599 nsv457513 16 65772821 65874101 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534686 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations E2F4,ELMO3,EXOC3L1,FHOD1,KIAA0895L,LRRC29,MIR328,PLEKHG4,SLC9A5,TMEM208 HGDP00857 dgv2889n71 16 65776608 65798783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906804,nsv906805 M 6533 0 2 E2F4,ELMO3,EXOC3L1,LRRC29,MIR328 SP54043,SP55021 esv2079182 16 65811002 65811687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970156 S 1 0 1 LRRC29 NA18507 esv9318 16 65862035 65862109 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31759 S 1 1 0 SLC9A5 SJK nsv819753 16 65862129 65863321 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419193 S 2 1 0 SLC9A5 AK1 nsv827708 16 65875622 65876219 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435462 S 31 1 0 PLEKHG4 NA18942 nsv833265 16 65919118 65964706 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452829 S 95 0 1 LRRC36 nsv1841 16 65944631 65978180 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7262 S 9 1 0 LRRC36 NA12156 nsv906806 16 65982194 66025415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510143 S 6533 0 1 HSD11B2,TPPP3,ZDHHC1 SP54956 nsv833266 16 65999968 66162825 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452830 S 95 0 1 AGRP,ATP6V0D1,CTCF,FAM65A,HSD11B2,ZDHHC1 nsv827710 16 66003354 66017218 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425863 S 31 1 0 ZDHHC1 NA18969 esv2622215 16 66070435 66072154 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265502 S 1 0 1 ATP6V0D1 NA18507 esv2247849 16 66071119 66071838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833967 S 1 0 1 ATP6V0D1 NA18507 esv992883 16 66101454 66109100 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563804 S 3 0 1 "" HuRef nsv906807 16 66113275 66133572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510144 S 6533 0 1 FAM65A SP54956 esv29734 16 66122634 66125177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20508 S 451 0 1 FAM65A NA12776 nsv827711 16 66127507 66175228 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439324 S 31 1 0 CTCF,FAM65A NA18973 esv270767 16 66127816 66127901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516550 S 157 1 0 Samples from several populations that are part of the HapMap project. FAM65A NA12814 esv26764 16 66152972 66155800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14279 S 451 0 1 CTCF NA18511 dgv2890n71 16 66229707 66266398 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906808,nsv906812 M 6533 0 10 ACD,C16orf48,C16orf86,CTCF,GFOD2,PARD6A,RLTPR SP51109,SP54043,SP54593,SP54672,SP54725,SP54956,SP54967,SP54988,SP55019,SP55021 nsv906809 16 66234457 66249016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505800 S 6533 0 1 ACD,RLTPR SP53969 dgv2891n71 16 66234457 66258356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906811,nsv906810 M 6533 0 3 ACD,C16orf48,C16orf86,PARD6A,RLTPR SP54225,SP54591,SP54750 nsv1842 16 66296406 66317090 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1313,nssv5609,nssv6677 M 9 3 0 GFOD2,RANBP10 NA12156,NA19129,NA19240 nsv906813 16 66420952 66492567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510146 S 6533 0 1 CENPT,EDC4,NRN1L,NUTF2,PSKH1,THAP11 SP54956 nsv1844 16 66459729 66508760 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9963,nssv4220,nssv1314 M 9 0 3 EDC4,NRN1L,NUTF2,PSKH1 NA12878,NA18507,NA19240 nsv906814 16 66471737 66492567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510936 S 6533 0 1 EDC4,NRN1L,PSKH1 SP54988 esv2591720 16 66489974 66496896 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274637 S 1 0 1 PSKH1 NA18507 esv21655 16 66491713 66496553 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13854 S 451 0 1 PSKH1 NA19240 nsv442402 16 66492225 66495131 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PSKH1 nsv906815 16 66551144 66574857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506069,nssv1510937 M 6533 0 2 DPEP3,SLC12A4 SP54043,SP54988 nsv906816 16 66551144 66591040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510147 S 6533 0 1 DPEP2,DPEP3,SLC12A4 SP54956 nsv1845 16 66645740 66662305 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7264 S 9 0 1 DUS2L NA12156 nsv906817 16 66673519 66704185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514712 S 6533 0 1 NFATC3 SP56047 nsv1846 16 66771759 66805166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7265 S 9 1 0 NFATC3 NA12156 nsv510691 16 66857931 66916835 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622711 S 4 0 1 PRMT7,SLC7A6,SLC7A6OS NA18994 nsv519368 16 66902197 66902537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696814 S 2026 0 1 PRMT7,SLC7A6OS nsv1847 16 66956175 66988155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10093 S 9 1 0 SMPD3 NA18956 nsv1848 16 67008183 67041762 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4221 S 9 1 0 SMPD3 NA12878 esv2162400 16 67071644 67072156 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665979 S 1 0 1 "" NA18507 nsv1849 16 67093532 67124636 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2146 S 9 1 0 "" NA18555 nsv457515 16 67155508 67482002 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534687 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH1,CDH3,TMCO7,ZFP90 HGDP00512 esv275410 16 67174720 67192837 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586001,essv2585727 M 1250 1 1 "" nsv522753 16 67196839 67198889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698390 S 2026 0 1 "" esv2495111 16 67232898 67233719 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247712 S 1 1 0 "" NA18507 esv1562347 16 67233378 67233378 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204041 S 2 1 0 "" HuRef nsv833267 16 67240000 67415305 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452831 S 95 1 0 CDH1,CDH3 nsv827712 16 67263500 67266377 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440694 S 31 1 0 CDH3 NA18564 esv1005955 16 67273862 67278219 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565756 S 3 0 1 CDH3 HuRef esv1728945 16 67275074 67275125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611871 S 2 0 1 CDH3 HuRef nsv103068 16 67330369 67331573 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121646 M 24 CDH1 esv29196 16 67345074 67351437 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18107 S 451 2 0 CDH1 NA18916,NA19257 nsv817735 16 67414790 67420815 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418323 S 112 1 0 CDH1 NA19092 esv25425 16 67421302 67424310 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16661 S 451 0 2 CDH1 NA18861,NA19099 esv2751611 16 67453255 67604246 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989264,essv6989522 M 771 0 1 TMCO7 BEC_48 nsv906818 16 67485653 67648719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577811 S 6533 0 1 TMCO7 IS34572 esv270917 16 67531968 67532053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519115 S 157 1 0 Samples from several populations that are part of the HapMap project. TMCO7 NA19141 nsv833268 16 67535349 67696999 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452832 S 95 0 1 HAS3,TMCO7 esv2595638 16 67584448 67585798 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257213 S 1 0 1 TMCO7 NA18507 nsv827713 16 67621826 67622939 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422215,nssv1422632,nssv1425362,nssv1430040,nssv1437801 M 31 0 5 TMCO7 AK2,NA18547,NA18949,NA18968,NA18997 nsv827714 16 67621826 67624729 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426176 S 31 0 1 TMCO7 AK4 nsv906819 16 67693063 67713791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499319 S 6533 0 1 CHTF8,HAS3 SP50159 nsv1850 16 67712358 67746766 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7266 S 9 0 1 CHTF8,CIRH1A NA12156 nsv1851 16 67753864 67796337 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4222,nssv7267,nssv2147,nssv5610 M 9 4 0 CIRH1A,SNTB2 NA12156,NA12878,NA18555,NA19129 nsv509628 16 67767331 67839589 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623699,nssv619693,nssv621030 M 4 3 0 SNTB2 NA10860,NA15510,NA18994 esv1482035 16 67782830 67782830 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253033 S 2 1 0 SNTB2 HuRef esv993295 16 67782836 67782909 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564953 S 3 1 0 SNTB2 HuRef nsv103191 16 67800165 67802161 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121769 M 24 SNTB2 esv2180832 16 67873900 67874313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582649 S 1 0 1 SNTB2 NA18507 nsv819598 16 67883264 67892443 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418566 S 2 0 1 SNTB2 AK1 nsv906820 16 67899282 67933983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510148 S 6533 0 1 COG8,NIP7,PDF,SNTB2,VPS4A SP54956 nsv827715 16 67903347 67931862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432479 S 31 0 1 COG8,NIP7,PDF,VPS4A AK20 nsv523736 16 67911088 67913174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699552 S 2026 0 1 VPS4A esv1563205 16 67916832 67916900 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745474 S 2 0 1 "" HuRef esv269474 16 67953318 67953645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565601,essv2540851,essv2571838,essv2546181,essv2521031,essv2526279,essv2536584,essv2523071,essv2556589,essv2545590,essv2523291,essv2577459,essv2550661,essv2550380,essv2520444,essv2558348,essv2564473,essv2553628,essv2559438,essv2576233,essv2520241,essv2537190,essv2546687,essv2530485,essv2552417,essv2551861,essv2562655,essv2569501,essv2578545,essv2558848,essv2539071,essv2523710,essv2524440,essv2532765,essv2569869,essv2563809,essv2566805,essv2541962,essv2551114,essv2543427,essv2527893,essv2566544,essv2573997,essv2522619,essv2573463,essv2529682,essv2574985,essv2538606,essv2526714,essv2545152,essv2549657,essv2535959,essv2537882,essv2548747,essv2524987,essv2563362 M 157 56 0 Samples from several populations that are part of the HapMap project. TERF2 NA06986,NA07000,NA07037,NA07357,NA10847,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11994,NA12003,NA12004,NA12043,NA12155,NA12234,NA12716,NA12750,NA12751,NA12763,NA12776,NA12814,NA12815,NA12878,NA12892,NA18486,NA18502,NA18504,NA18507,NA18508,NA18510,NA18516,NA18519,NA18537,NA18555,NA18576,NA18593,NA18603,NA18853,NA18856,NA18858,NA18870,NA18907,NA18948,NA18951,NA18960,NA18964,NA19093,NA19102,NA19108,NA19114,NA19172,NA19225 esv272592 16 67953318 67953645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581697,essv2582842 M 7 2 0 Samples from several populations that are part of the HapMap project. TERF2 NA12878,NA12892 nsv509629 16 67967902 68026641 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621031 S 4 1 0 CYB5B,TERF2 NA15510 nsv906821 16 68067007 68134395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599490 S 6533 0 1 "" IS41647 nsv1852 16 68123622 68168463 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7268 S 9 0 1 MIR1538,NFAT5 NA12156 nsv906822 16 68269034 68302646 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501558 S 6533 1 0 NFAT5,NQO1 SP51108 nsv906823 16 68269034 68516724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501058 S 6533 1 0 NFAT5,NOB1,NQO1,WWP2 SP51082 nsv517207 16 68302646 68329415 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663543,nssv662557,nssv683447,nssv653708 M 2026 0 4 NQO1 nsv524364 16 68302646 68360944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700275 S 2026 0 1 NOB1,NQO1,WWP2 esv6609 16 68319624 68320148 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29050 S 1 0 0 "" SJK esv1292904 16 68329815 68329815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114219 S 2 1 0 "" HuRef nsv103749 16 68329815 68329815 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122327 M 24 "" nsv528905 16 68387376 68387829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705589 S 2026 0 1 WWP2 dgv895e1 16 68412623 68870723 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18240,essv3075,essv861,essv6721,essv13148,essv16525,essv12320,essv4275,essv13081,essv13921,esv596,essv2065,essv11725,essv21833,essv17521,essv2275,essv4470 M 271 0 0 AARS,CLEC18A,CLEC18C,EXOSC6,LOC729513,MIR140,MIR1972-1,MIR1972-2,PDPR,PDXDC2P,WWP2 NA11839,NA12057,NA12762,NA18552,NA18603,NA18608,NA18852,NA18854,NA18949,NA18966,NA18981,NA19000,NA19102,NA19138,NA19154,NA19210 esv33157 16 68497911 68501070 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99868 S 51 0 1 WWP2 22086 nsv509630 16 68510877 68587894 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621032,nssv623700,nssv618118 M 4 3 0 CLEC18A,MIR140,PDXDC2P,WWP2 CHM,NA15510,NA18994 nsv1853 16 68519797 68826357 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2148,nssv1315 M 9 0 2 CLEC18A,CLEC18C,LOC729513,MIR140,MIR1972-1,MIR1972-2,PDPR,PDXDC2P,WWP2 NA18555,NA19240 esv25670 16 68528337 68601385 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15512,esv12504,esv10351,esv10288,esv17618 M 451 6 1 CLEC18A,PDXDC2P,WWP2 NA07037,NA07045,NA12239,NA18511,NA18907,NA19099,NA19225 nsv9452 16 68533527 68565700 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21742,nssv26441,nssv23550,nssv23904,nssv22524,nssv26485,nssv24533 M 31 0 7 Samples from several populations that are part of the HapMap project. CLEC18A NA12740,NA18552,NA18942,NA18972,NA18975,NA19132,NA19144 dgv2892n71 16 68533980 68775868 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906824,nsv906829,nsv906830,nsv906831,nsv906833,nsv906832 M 6533 8 0 CLEC18A,CLEC18C,MIR1972-1,MIR1972-2,PDPR,PDXDC2P IS31286,IS36854,IS38183,IS38507,IS38577,IS39532,IS40129,IS41664 dgv2893n71 16 68533980 68811479 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906844,nsv906834,nsv906846,nsv906825 M 6533 5 0 CLEC18A,CLEC18C,LOC729513,MIR1972-1,MIR1972-2,PDPR,PDXDC2P IS31649,IS38138,IS39243,SP54030,SP55165 dgv485n67 16 68534089 68795076 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827718,nsv827717,nsv827716 M 31 0 3 CLEC18A,CLEC18C,MIR1972-1,MIR1972-2,PDPR,PDXDC2P NA18537,NA18566,NA18582 esv2122554 16 68534614 68535063 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551198 S 1 0 1 "" NA18507 nsv428328 16 68544064 68870723 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453256,nssv453257 M 62 1 1 AARS,CLEC18A,CLEC18C,EXOSC6,LOC729513,MIR1972-1,MIR1972-2,PDPR,PDXDC2P HGDP00471,NA19113 dgv2894n71 16 68547820 68698988 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906827,nsv906826 M 6533 5 0 CLEC18A,MIR1972-1,MIR1972-2,PDXDC2P IS33529,IS38182,IS38863,IS41992,MS13294 dgv2895n71 16 68547820 68765309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906828,nsv906839 M 6533 0 2 CLEC18A,MIR1972-1,MIR1972-2,PDPR,PDXDC2P IS40254,SP56370 nsv436059 16 68567583 68790725 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465575 S 2 1 0 CLEC18C,MIR1972-1,MIR1972-2,PDPR,PDXDC2P NA15510 dgv2896n71 16 68567959 68715069 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906836,nsv906842,nsv906835,nsv906840 M 6533 6 0 MIR1972-1,MIR1972-2,PDPR,PDXDC2P IS37338,MS10797,MS25484,SP50827,SP52562,SP57147 dgv2897n71 16 68567959 68753813 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906838,nsv906843,nsv906841,nsv906848,nsv906837,nsv906847 M 6533 7 0 MIR1972-1,MIR1972-2,PDPR,PDXDC2P IS40928,MS12353,MS12812,MS22707,SP50604,SP53184,SP81020 nsv827719 16 68577621 68754217 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439325 S 31 1 0 MIR1972-1,MIR1972-2,PDPR,PDXDC2P NA18973 nsv833269 16 68598107 68799077 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452837,nssv1452838,nssv1452833,nssv1452836,nssv1452835,nssv1452834,nssv1452839 M 95 0 7 CLEC18C,MIR1972-1,MIR1972-2,PDPR,PDXDC2P esv987821 16 68601385 68666545 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586583 S 3 1 0 MIR1972-1,MIR1972-2,PDXDC2P HuRef esv25951 16 68601984 68666545 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9780 S 451 0 2 MIR1972-1,MIR1972-2,PDXDC2P NA11894,NA19190 nsv9453 16 68602144 68667058 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23783,nssv23881,nssv23730,nssv26455,nssv22554,nssv21802 M 31 0 6 Samples from several populations that are part of the HapMap project. MIR1972-1,MIR1972-2,PDXDC2P NA18537,NA18942,NA18972,NA18975,NA18980,NA19007 nsv827721 16 68603169 68639885 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428687,nssv1429453 M 31 0 2 MIR1972-1,MIR1972-2,PDXDC2P AK10,AK12 nsv827722 16 68603169 68660407 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435464 S 31 0 1 MIR1972-1,MIR1972-2,PDXDC2P NA18942 nsv827723 16 68603169 68755442 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436352 S 31 0 1 MIR1972-1,MIR1972-2,PDPR,PDXDC2P NA18592 nsv906845 16 68603317 68697043 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514614 S 6533 1 0 MIR1972-1,MIR1972-2,PDXDC2P SP56029 nsv820087 16 68604862 68838427 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418794 S 2 0 1 CLEC18C,LOC729513,MIR1972-1,MIR1972-2,PDPR,PDXDC2P AK1 essv1325 16 68609885 68745051 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR1972-1,MIR1972-2,PDPR,PDXDC2P NA18973 nsv517743 16 68621490 68693706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674145,nssv653078,nssv660558 M 2026 0 3 MIR1972-1,MIR1972-2,PDXDC2P dgv2898n71 16 68640132 68753813 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906850,nsv906849 M 6533 2 0 PDPR,PDXDC2P MS19700,SP56207 esv1034468 16 68643561 68643561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209563 S 2 1 0 PDXDC2P HuRef nsv103190 16 68653098 68655095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121768 M 24 PDXDC2P nsv469646 16 68662992 68814400 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649573 M 265 4 0 Samples from several populations that are part of the HapMap project. CLEC18C,LOC729513,PDPR nsv471695 16 68662993 68814400 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549887,nssv549878,nssv549880,nssv549879,nssv549884,nssv549890,nssv549894,nssv549889,nssv549882,nssv549892,nssv549881,nssv549891,nssv549888,nssv549883,nssv549886,nssv549885,nssv549893 M 48 0 17 CLEC18C,LOC729513,PDPR NA10493,NA10494,NA10967,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA15729,NA16689,NA17014,NA17016,NA17051,NA17052,NA17058,P86GA dgv2899n71 16 68665824 68818396 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906853,nsv906851,nsv906854,nsv906852,nsv906861,nsv906862 M 6533 15 0 CLEC18C,LOC729513,PDPR IS30277,IS35145,IS38143,IS39625,MS12281,MS13373,MS15118,MS22748,MS23152,MS23486,SP55650,SP55791,SP56215,SP56971,SP57190 esv33745 16 68674100 68877374 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101551,essv101474,essv98850,essv97585,essv101233,essv98211,essv93997,essv94311,essv94383,essv95692,essv93041,essv101781,essv101772,essv95907,essv92982,essv92825,essv96654,essv99756,essv95991,essv99696,essv92574,essv99298,essv100159,essv100519,essv99446,essv96274 M 51 18 5 AARS,CLEC18C,EXOSC6,LOC729513,PDPR 21603,21606,21616,21618,21772,21802,21808,21841,21863,21909,21911,21939,21944,22011,22086,22127,22217,22233,22275,22286,22298,22335,22371 nsv9454 16 68681902 68685710 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23145,nssv21161 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA12872 nsv103694 16 68683656 68683656 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122272 M 24 "" dgv896e1 16 68690128 68870723 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23397,essv16914,essv7144 M 271 0 0 AARS,CLEC18C,EXOSC6,LOC729513,PDPR NA10854,NA18547,NA19205 esv997919 16 68693050 68755442 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586813 S 3 0 1 PDPR HuRef dgv2900n71 16 68699063 68765309 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906858,nsv906855,nsv906856,nsv906857 M 6533 31 0 PDPR SP50081,SP50520,SP50904,SP50927,SP50942,SP50997,SP51031,SP51040,SP51057,SP51339,SP51494,SP52055,SP52081,SP52093,SP52109,SP52130,SP52529,SP53333,SP53490,SP53859,SP54058,SP54402,SP54429,SP54803,SP55131,SP55401,SP55715,SP56350,SP56890,SP57205,SP80925 dgv2901n71 16 68699063 68789182 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906859,nsv906860 M 6533 3 0 CLEC18C,PDPR SP54580,SP54884,SP56937 nsv9455 16 68701593 68792833 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21191,nssv26469,nssv20629,nssv26499,nssv24559,nssv23412,nssv23931,nssv24244,nssv21832,nssv25412,nssv25038,nssv22584,nssv20650,nssv23578,nssv25063,nssv26513,nssv23710,nssv24463,nssv26736 M 31 1 16 Samples from several populations that are part of the HapMap project. CLEC18C,PDPR NA10839,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18552,NA18564,NA18572,NA18942,NA18972,NA18975,NA19132,NA19144,NA19173,NA19240 esv25519 16 68702635 68842582 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12910,esv14657,esv21256,esv20058,esv18409 M 451 9 4 CLEC18C,EXOSC6,LOC729513,PDPR NA07037,NA07045,NA12004,NA12044,NA12239,NA12878,NA15510,NA18505,NA18517,NA18523,NA18907,NA19099,NA19108 dgv486n67 16 68702855 68755442 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827727,nsv827726,nsv827724,nsv827725 M 31 20 0 PDPR AK10,AK12,AK14,AK16,AK18,AK4,AK6,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18968,NA18969,NA18973,NA18997,NA18999 nsv820860 16 68702855 68755442 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419888 S 1 1 0 PDPR NA10851 nsv471391 16 68705030 68752685 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548148,nssv548147,nssv548149 M 3 PDPR nsv482195 16 68705030 68752685 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558556 S 1 1 0 PDPR KB1 nsv514810 16 68706240 68753928 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628263 S 1414 0 0 PDPR nsv442725 16 68709061 68755857 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PDPR nsv827728 16 68709447 68795076 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434024,nssv1435465,nssv1434738 M 31 0 3 CLEC18C,PDPR NA18526,NA18570,NA18942 esv1007882 16 68713938 68767179 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586479 S 3 0 1 CLEC18C,PDPR HuRef nsv906863 16 68715069 68752749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503297 S 6533 1 0 PDPR SP52025 nsv7285 16 68716283 72986007 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9532,nssv10094,nssv10959,nssv5611 M 9 0 0 AARS,AP1G1,ATXN1L,CALB2,CHST4,CLEC18C,COG4,DDX19A,DDX19B,DHODH,DHX38,EXOSC6,FTSJD1,FUK,HP,HPR,HTA,HYDIN,IL34,IST1,LOC100130894,LOC100506083,LOC100506172,LOC283922,LOC729513,MARVELD3,MIR3647,MTSS1L,PDPR,PHLPP2,PKD1L3,PMFBP1,PSMD7,SF3B3,SNORA70D,SNORD111,SNORD111B,SNORD71,ST3GAL2,TAT,TXNL4B,VAC14,ZFHX3,ZNF19,ZNF23,ZNF821 NA15510,NA18507,NA18956,NA19129 dgv2902n71 16 68718745 68775868 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906865,nsv906864 M 6533 9 0 CLEC18C,PDPR SP50058,SP50179,SP51427,SP53821,SP54355,SP55996,SP56089,SP80913,SP80932 esv2577915 16 68719349 68764709 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258761 S 1 1 0 PDPR NA18507 esv29970 16 68726357 68754434 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84209 S 2 0 1 PDPR HuRef nsv906866 16 68727687 68799626 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516961,nssv1513789,nssv1516495,nssv1507149 M 6533 4 0 CLEC18C,PDPR SP54478,SP55843,SP56846,SP57009 nsv833271 16 68743195 68910835 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452841,nssv1452842,nssv1452840,nssv1452846,nssv1452843,nssv1452845,nssv1452844 M 95 1 6 AARS,CLEC18C,DDX19B,EXOSC6,LOC100506083,LOC729513,PDPR nsv906867 16 68747902 68782161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506277 S 6533 1 0 CLEC18C,PDPR SP54127 nsv482196 16 68765429 68778297 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558557 S 1 1 0 CLEC18C KB1 nsv906868 16 68827930 68850311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510938 S 6533 0 1 AARS,EXOSC6 SP54988 nsv906869 16 68843402 68850311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510149 S 6533 0 1 AARS SP54956 nsv906870 16 68852562 68880627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503451,nssv1501652 M 6533 0 2 AARS SP50802,SP52058 dgv2903n71 16 68859834 68933374 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906871,nsv906872 M 6533 2 0 AARS,DDX19B,LOC100506083 SP54875,SP55551 esv23255 16 68896097 68898705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20407 S 451 0 1 DDX19B NA18508 nsv833272 16 68927270 69127224 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452847,nssv1452848,nssv1452849 M 95 0 3 COG4,DDX19A,FUK,LOC100506083,MIR3647,SF3B3,SNORD111B,ST3GAL2 nsv906873 16 69053412 69067339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500674 S 6533 0 1 FUK SP50159 esv2047908 16 69094801 69095489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667235 S 1 0 1 COG4 NA18507 esv2439753 16 69109727 69111287 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172674 S 1 0 1 COG4 NA18507 esv2008425 16 69110340 69111038 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884847 S 1 0 1 COG4 NA18507 esv4553 16 69110455 69110923 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26994 S 1 0 1 Single Asian sample YH COG4 YH esv8463 16 69110499 69110837 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30904 S 1 0 1 COG4 SJK esv2425317 16 69110515 69110834 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241075 S 1 0 1 COG4 NA18507 esv1193820 16 69110525 69110845 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784308 S 2 0 1 COG4 HuRef nsv103855 16 69123708 69123761 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122433 M 24 SF3B3 esv26820 16 69208074 69217618 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14380 S 451 0 1 IL34 NA19129 nsv517391 16 69223911 69397991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685729,nssv688907,nssv692963,nssv661199,nssv692375,nssv673990,nssv659499,nssv683671,nssv655688,nssv690212,nssv688332,nssv652655,nssv661274,nssv687636,nssv703722,nssv680962,nssv666998,nssv666646,nssv651882,nssv668450,nssv653188,nssv665897 M 2026 0 22 IL34,LOC100130894,MTSS1L,VAC14 dgv2904n71 16 69235286 69323879 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906877,nsv906874,nsv906875,nsv906876 M 6533 0 7 IL34,MTSS1L,VAC14 IS31045,IS33684,IS34304,IS38403,IS39233,MS17208,MS18276 dgv2905n71 16 69235286 69354016 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906878,nsv906879,nsv906880 M 6533 0 5 IL34,LOC100130894,MTSS1L,VAC14 IS33162,IS35484,MS10311,MS11306,MS13770 nsv906881 16 69245574 69257715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516601 S 6533 0 1 IL34,MTSS1L SP56874 dgv2906n71 16 69248490 69283316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906884,nsv906882 M 6533 0 2 IL34,MTSS1L,VAC14 SP51109,SP54956 nsv906883 16 69251501 69262475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504927 S 6533 0 1 IL34,MTSS1L SP52868 nsv471094 16 69251501 69307471 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545332 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IL34,MTSS1L,VAC14 HGDP00697 nsv906885 16 69253868 69300037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576288 S 6533 0 1 MTSS1L,VAC14 IS34005 nsv1856 16 69262304 69275762 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5612 S 9 1 0 MTSS1L NA19129 dgv2907n71 16 69270050 69284825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906886,nsv906887 M 6533 0 2 MTSS1L,VAC14 SP54988,SP55021 nsv906888 16 69274243 69300037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499383 S 6533 0 1 MTSS1L,VAC14 SP50159 dgv2908n71 16 69281502 69348332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906889,nsv906890 M 6533 0 2 LOC100130894,VAC14 MS11726,MS17208 dgv897e1 16 69364623 69874484 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv763,essv14439,essv14529,essv13304,essv13256,essv17388,essv10659 M 271 0 0 FTSJD1,HYDIN,LOC100130894,VAC14 NA18855,NA19201,NA19202 esv2446050 16 69402878 69760218 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283360 S 1 1 0 HYDIN NA18507 nsv819929 16 69403428 69760528 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418917 S 2 1 0 HYDIN AK1 esv27528 16 69404749 69760030 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12441,esv18746 M 451 3 1 HYDIN NA18517,NA18907,NA19190,NA19225 nsv513453 16 69413092 69413619 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625856 S 1 1 0 HYDIN 1 nsv103278 16 69418137 69426279 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121856 M 24 HYDIN nsv817736 16 69428532 69471485 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416407 S 112 1 0 HYDIN NA18855 nsv906891 16 69491435 69707746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592715 S 6533 1 0 HYDIN IS39243 nsv103320 16 69493393 69495880 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121898 M 24 HYDIN nsv1857 16 69500855 69545517 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7269 S 9 0 1 HYDIN NA12156 nsv511573 16 69505261 69512219 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626200 S 1 0 1 HYDIN 1 esv1000229 16 69534921 69544561 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563752 S 3 0 1 HYDIN HuRef esv2190080 16 69535125 69537573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968325 S 1 0 1 HYDIN NA18507 nsv512443 16 69535234 69537451 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625037 S 1 0 1 HYDIN 1 esv8826 16 69535299 69537389 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31267 S 1 0 1 HYDIN SJK nsv103129 16 69535301 69537395 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121707 M 24 HYDIN nsv514811 16 69536544 69537344 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628264 S 1414 1 0 HYDIN esv1004290 16 69561886 69561886 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570940 S 3 1 0 HYDIN HuRef esv8659 16 69563729 69563808 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31100 S 1 1 0 HYDIN SJK nsv1858 16 69564484 69589769 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7270,nssv10095 M 9 2 0 HYDIN NA12156,NA18956 esv2603903 16 69573206 69574673 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228725 S 1 0 1 HYDIN NA18507 esv993690 16 69585473 69585836 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565667 S 3 1 0 HYDIN HuRef esv268722 16 69585487 69585572 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514540,essv2516801,essv2519240,essv2516977,essv2518760,essv2514836,essv2515174,essv2516423,essv2515758,essv2518146,essv2514336,essv2517807,essv2515798,essv2517236,essv2518982,essv2518256,essv2519461,essv2513685 M 157 18 0 Samples from several populations that are part of the HapMap project. HYDIN NA07346,NA07347,NA11840,NA11881,NA11894,NA11931,NA12045,NA12234,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA18969,NA18970,NA19141,NA19240 esv273207 16 69585487 69585572 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581317,essv2581214 M 7 2 0 Samples from several populations that are part of the HapMap project. HYDIN NA12878,NA19240 esv2628681 16 69617097 69618185 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186263 S 1 1 0 HYDIN NA18507 esv269921 16 69617779 69618114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514621,essv2514072,essv2515297,essv2518626,essv2515011,essv2516485,essv2515737,essv2516026,essv2514316,essv2517879,essv2517288,essv2518959,essv2513968,essv2513655 M 157 14 0 Samples from several populations that are part of the HapMap project. HYDIN NA07347,NA11840,NA12043,NA12249,NA12287,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA18970,NA19141,NA19143 esv273571 16 69617779 69618114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581472 S 7 1 0 Samples from several populations that are part of the HapMap project. HYDIN NA12878 esv270588 16 69688834 69689161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557991,essv2565607,essv2540766,essv2521362,essv2542467,essv2536700,essv2522719,essv2543893,essv2571015,essv2545643,essv2577438,essv2576864,essv2535278,essv2520440,essv2564529,essv2553613,essv2520132,essv2563996,essv2530655,essv2561801,essv2537353,essv2528276,essv2540179,essv2520961,essv2557417,essv2556898,essv2552595,essv2551692,essv2532424,essv2569278,essv2550096,essv2537131,essv2539199,essv2569644,essv2527327,essv2561728,essv2544604,essv2523581,essv2541432,essv2542877,essv2540374,essv2565190,essv2534788,essv2560995,essv2539564,essv2549597,essv2519617,essv2522267,essv2565973,essv2567691,essv2528857,essv2567373,essv2541569,essv2570070,essv2563745,essv2553445,essv2535631,essv2572359,essv2559084,essv2566773,essv2541891,essv2550943,essv2568999,essv2543783,essv2556305,essv2527996,essv2562213,essv2539347,essv2573061,essv2533634,essv2555598,essv2567039,essv2566524,essv2530078,essv2573893,essv2527568,essv2557656,essv2555805,essv2534296,essv2531569,essv2573351,essv2543150,essv2577165,essv2529676,essv2575454,essv2575246,essv2538530,essv2526604,essv2560633,essv2524225,essv2574818,essv2530248,essv2572689,essv2568437,essv2560448,essv2549828,essv2545736,essv2551456,essv2536302,essv2538024,essv2532948,essv2554367,essv2524927,essv2563208 M 157 104 0 Samples from several populations that are part of the HapMap project. HYDIN NA06986,NA07000,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11831,NA11894,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12043,NA12154,NA12249,NA12716,NA12751,NA12763,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19239,NA19257 esv272779 16 69688834 69689161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581941,essv2582290,essv2584568 M 7 3 0 Samples from several populations that are part of the HapMap project. HYDIN NA12878,NA12891,NA19239 esv9491 16 69708518 69709216 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31932 S 1 0 0 HYDIN SJK esv268326 16 69712099 69712184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516422 S 157 1 0 Samples from several populations that are part of the HapMap project. HYDIN NA12814 esv2539613 16 69721488 69722917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257807 S 1 0 1 HYDIN NA18507 esv2325464 16 69721672 69722384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766232 S 1 0 1 HYDIN NA18507 esv1000045 16 69721871 69722197 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585824 S 3 0 1 HYDIN HuRef esv9448 16 69721876 69722200 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31889 S 1 0 1 HYDIN SJK nsv1859 16 69723588 69744131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7271 S 9 0 1 HYDIN NA12156 esv1740201 16 69741152 69741152 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129533 S 2 1 0 HYDIN HuRef nsv1860 16 69826657 69871353 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7273 S 9 0 1 "" NA12156 nsv509631 16 69870746 69928016 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619694,nssv618119,nssv623701 M 4 3 0 FTSJD1 CHM,NA10860,NA18994 nsv511050 16 69870746 69928016 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621639 S 4 0 0 FTSJD1 NA15510 nsv1861 16 69871176 69890120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1316,nssv4223,nssv5613 M 9 3 0 FTSJD1 NA12878,NA19129,NA19240 esv988018 16 69872517 69892942 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563704 S 3 0 0 FTSJD1 HuRef esv993710 16 69882751 69885186 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565365 S 3 1 0 "" HuRef esv4155 16 69885219 69887830 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26596 S 1 0 1 Single Asian sample YH "" YH nsv528229 16 69889229 69916438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704791 S 2026 0 1 "" nsv520747 16 69913636 69916438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674949,nssv690563 M 2026 0 2 "" esv2640068 16 69976066 69976328 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389419 S 1 1 0 CALB2 NA18507 esv1001826 16 69990426 69990426 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585582 S 3 1 0 "" HuRef nsv906892 16 70084221 70127914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504339 S 6533 0 1 CHST4 SP52432 esv2597921 16 70232338 70235497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169972 S 1 0 1 MARVELD3 NA18507 esv2116823 16 70232981 70235144 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675608 S 1 0 1 MARVELD3 NA18507 esv8241 16 70311046 70313098 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30682 S 1 0 1 "" SJK esv29201 16 70314327 70315774 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11117 S 451 0 1 "" NA18511 esv992302 16 70324913 70324922 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576046 S 3 1 0 AP1G1 HuRef esv1254626 16 70324923 70324923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689805 S 2 1 0 AP1G1 HuRef esv1001782 16 70458878 70459611 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564912 S 3 1 0 ATXN1L,ZNF821 HuRef esv267783 16 70471460 70471743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504561 S 157 1 0 Samples from several populations that are part of the HapMap project. ATXN1L,ZNF821 NA18563 nsv906893 16 70480164 70546229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512757 S 6533 0 1 IST1,PKD1L3 SP55611 nsv1862 16 70492292 70526487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7274 S 9 1 0 IST1,PKD1L3 NA12156 nsv516948 16 70523226 70546229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662590,nssv653484 M 2026 0 2 PKD1L3 nsv833273 16 70529306 70710355 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452850 S 95 0 1 DHODH,DHX38,HP,HPR,PKD1L3,TXNL4B dgv898e1 16 70533845 70831848 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9108,essv11832,essv12393,essv10017,essv8293,essv16257,essv13137,essv14291,essv11500,essv13434,esv186,essv8855,essv15833,essv17324,essv15666,essv16723,essv11897,essv10377,essv14758,essv15496,essv17255 M 271 0 0 DHODH,DHX38,HP,HPR,PKD1L3,PMFBP1,TXNL4B NA18503,NA18505,NA18508,NA18521,NA18856,NA18860,NA18912,NA19099,NA19102,NA19103,NA19142,NA19159,NA19161,NA19173,NA19192,NA19194,NA19221,NA19222,NA19223,NA19238 nsv428329 16 70533845 70831848 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453258,nssv453265,nssv453261,nssv453263,nssv453260,nssv453259,nssv453262 M 62 7 0 DHODH,DHX38,HP,HPR,PKD1L3,PMFBP1,TXNL4B HGDP00462,HGDP00472,HGDP01094,NA19096,NA19108,NA19113,NA19181 esv2600685 16 70538052 70538492 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173410 S 1 1 0 PKD1L3 NA18507 nsv513454 16 70538086 70538274 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625857 S 1 1 0 PKD1L3 1 nsv521097 16 70558637 70559809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682109,nssv689754 M 2026 0 2 PKD1L3 nsv103854 16 70567681 70568960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122432 M 24 PKD1L3 nsv906894 16 70571040 70603712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502607 S 6533 1 0 DHODH,PKD1L3 SP51293 dgv2909n71 16 70640819 70671503 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906896,nsv906895 M 6533 0 9 HP,HPR SP50723,SP50783,SP52255,SP52607,SP52834,SP54355,SP54577,SP57328,SP57779 nsv827729 16 70641220 70667752 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430062,nssv1439327 M 31 0 2 HP,HPR NA18968,NA18973 nsv9456 16 70642262 70675823 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25843,nssv27053,nssv25864,nssv20659,nssv25437,nssv25088,nssv28117,nssv26646,nssv24326,nssv26659,nssv24270 M 31 7 1 Samples from several populations that are part of the HapMap project. HP,HPR NA12155,NA18504,NA18517,NA18572,NA18860,NA19173,NA19221,NA19240 esv2422047 16 70644511 70665594 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5115789,essv5047182,essv5077369,essv5149127,essv5077082,essv5137575,essv5094564,essv5152343,essv5042149,essv5049455,essv5110320,essv5099175,essv5071372,essv5024429,essv5003886,essv5121176,essv5065101,essv5156301,essv5084233,essv5053021,essv5098877,essv5112421,essv5106882,essv5081980,essv5154812,essv5087497,essv5157327,essv5084371,essv5038746,essv5038588,essv5119914,essv5061455,essv5127020,essv5119051,essv5012161,essv5122144,essv5002607,essv5135105,essv5005670,essv5153870,essv5142054,essv5079775,essv5020397,essv5136275,essv5016015,essv5038241,essv5094857,essv5133371,essv5104761,essv5052984,essv5091714,essv5057522,essv5101442,essv5090427,essv5008400,essv5130746,essv5106212,essv5062784,essv5049190,essv5126546,essv5057619,essv5055259,essv5075957,essv5119669,essv5020297,essv5132246,essv5011148,essv5018307,essv5003134,essv5016304,essv5125103,essv5016524,essv5132870,essv5007741,essv5066347,essv5070868,essv5156376,essv5135425,essv5157889,essv5141517,essv5124841,essv5155252,essv5019754,essv5140394,essv5076404,essv5115963,essv5146283 M 1184 87 0 HP,HPR NA18497,NA18499,NA18503,NA18504,NA18505,NA18508,NA18515,NA18517,NA18519,NA18859,NA18860,NA18862,NA18870,NA18873,NA18912,NA18913,NA19027,NA19036,NA19096,NA19099,NA19102,NA19103,NA19108,NA19113,NA19115,NA19121,NA19141,NA19142,NA19159,NA19161,NA19172,NA19173,NA19175,NA19181,NA19182,NA19183,NA19184,NA19186,NA19192,NA19194,NA19197,NA19199,NA19209,NA19221,NA19222,NA19223,NA19224,NA19226,NA19238,NA19240,NA19248,NA19249,NA19332,NA19334,NA19383,NA19390,NA19396,NA19428,NA19431,NA19446,NA19449,NA19455,NA19462,NA19473,NA19474,NA19703,NA19705,NA19708,NA19712,NA19771,NA19772,NA20287,NA20289,NA20290,NA20332,NA20333,NA20341,NA20344,NA20350,NA21367,NA21384,NA21387,NA21573,NA21577,NA21611,NA21615,NA21685 nsv817737 16 70645832 70665594 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417511 S 112 0 1 HP,HPR NA18968 esv23639 16 70646001 70669798 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11219,esv13014 M 451 9 4 HP,HPR NA11931,NA12156,NA12776,NA15510,NA18505,NA18508,NA18511,NA18517,NA18909,NA18916,NA19099,NA19108,NA19240 esv2215660 16 70646099 70654957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629639 S 1 0 1 HP,HPR NA18507 esv2478287 16 70646166 70656376 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252355 S 1 0 1 HP,HPR NA18507 nsv514812 16 70647888 70651296 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627166 S 1414 0 0 HP nsv514813 16 70651968 70653656 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628265 S 1414 1 0 HP nsv1863 16 70653305 70654528 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1318 S 9 1 0 "" NA19240 nsv1864 16 70655469 70675458 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9317,nssv1319 M 9 2 0 HPR NA18517,NA19240 nsv436836 16 70655707 70665591 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465577 S 2 1 0 Samples from several populations that are part of the HapMap project. HPR NA18505 nsv514814 16 70667088 70669936 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628266 S 1414 1 0 HPR esv270717 16 70682652 70682823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512591,essv2493268,essv2496312,essv2505757,essv2495486,essv2506464,essv2499144,essv2510832,essv2498815 M 157 9 0 Samples from several populations that are part of the HapMap project. TXNL4B NA18489,NA18504,NA18511,NA18861,NA18916,NA19108,NA19114,NA19116,NA19138 nsv1865 16 70706858 70741353 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1320 S 9 1 0 PMFBP1 NA19240 nsv906897 16 70840648 70883876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512626 S 6533 1 0 "" SP55565 esv25441 16 70876230 70878375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16621,esv21113 M 451 0 3 "" NA18505,NA19099,NA19114 nsv1867 16 70909763 70954840 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7275 S 9 0 1 "" NA12156 esv998812 16 70911139 70916024 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563751 S 3 1 0 "" HuRef esv273668 16 70943156 70943241 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581292 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv523524 16 71021961 71193175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699297 S 2026 0 1 "" nsv518234 16 71101948 71193175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695663 S 2026 0 1 "" esv2751612 16 71190800 71209415 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985589,essv6981506 M 771 1 0 "" BEC_287 nsv513455 16 71286447 71286758 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625858 S 1 1 0 "" 1 esv2520813 16 71303499 71304872 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195433 S 1 0 1 "" NA18507 esv2643023 16 71310334 71312023 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378566 S 1 0 1 "" NA18507 esv2231543 16 71310608 71311303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729939 S 1 0 1 "" NA18507 esv4824 16 71310739 71311176 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27265 S 1 0 1 Single Asian sample YH "" YH esv1086539 16 71310799 71311104 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617264 S 2 0 1 "" HuRef esv8090 16 71310808 71311097 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30531 S 1 0 1 "" SJK nsv1868 16 71359463 71377555 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6678 S 9 0 1 ZFHX3 NA12156 esv259436 16 71429009 71429280 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393773,essv2394045,essv2394285 M 6 0 0 Samples from several populations that are part of the HapMap project. ZFHX3 NA19238,NA19239,NA19240 nsv819379 16 71549914 71550670 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419077 S 2 1 0 ZFHX3 AK1 nsv906898 16 71575185 71685647 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536905 S 6533 0 1 HTA,ZFHX3 MS13011 nsv1869 16 71614493 71645862 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10096 S 9 1 0 ZFHX3 NA18956 dgv487n67 16 71624200 71674095 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827730,nsv827732 M 31 2 0 ZFHX3 NA18969,NA18973 nsv827733 16 71632615 71661222 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428689 S 31 1 0 ZFHX3 AK10 esv268829 16 71632782 71633035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496619,essv2502331,essv2505536,essv2495901,essv2508492,essv2508355,essv2512491,essv2493326,essv2504220,essv2509763,essv2496505,essv2496260,essv2500666,essv2512702,essv2508453,essv2508619,essv2505159,essv2507038,essv2493933,essv2513311,essv2509263,essv2511612,essv2497845,essv2505401,essv2495216,essv2504688,essv2506981,essv2499083,essv2510829,essv2497001,essv2504373,essv2499501,essv2513046 M 157 33 0 Samples from several populations that are part of the HapMap project. ZFHX3 NA07347,NA07357,NA10847,NA11894,NA12004,NA12154,NA12489,NA12717,NA12749,NA18489,NA18504,NA18505,NA18508,NA18510,NA18511,NA18571,NA18577,NA18582,NA18592,NA18853,NA18870,NA18871,NA18907,NA18909,NA18940,NA18945,NA18952,NA18964,NA19099,NA19102,NA19114,NA19116,NA19190 nsv827734 16 71648311 71653683 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426178 S 31 1 0 ZFHX3 AK4 esv29824 16 71649151 71650708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11235 S 451 0 1 ZFHX3 NA07045 nsv1870 16 71717200 71720274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10097 S 9 1 0 "" NA18956 esv33477 16 71755303 71755519 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95471 S 51 1 0 "" 21847 esv32791 16 71771129 71771704 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96677,essv100273 M 51 2 0 "" 22011,22286 nsv524964 16 71875058 71881468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700986 S 2026 0 1 "" esv1261244 16 71878760 71879034 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366035 S 2 0 1 "" HuRef esv1002794 16 71880795 71890970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565720 S 3 0 1 "" HuRef nsv833274 16 71884018 72039267 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452851 S 95 0 1 LOC100506172 esv22502 16 71888584 71889214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13132 S 451 0 1 "" NA18502 nsv512444 16 71947488 71949093 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625038 S 1 0 1 "" 1 nsv517726 16 71947785 71948643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673161,nssv653022,nssv688394,nssv670066 M 2026 0 4 "" nsv523261 16 71957315 71959789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698995 S 2026 0 1 "" nsv515781 16 72016335 72017573 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659221,nssv664757,nssv688655,nssv658494,nssv686103,nssv682398,nssv686493 M 2026 0 7 "" nsv526298 16 72017573 72023455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702579 S 2026 0 1 "" nsv1871 16 72162507 72207421 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7276 S 9 0 1 "" NA12156 esv29483 16 72171957 72174464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17736 S 451 0 2 "" NA18861,NA19099 nsv906899 16 72174500 72290789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530062 S 6533 1 0 "" MS10184 dgv2910n71 16 72208354 73012794 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906901,nsv906900 M 6533 2 0 CLEC18B,LOC283922,PSMD7 MS10184,MS11031 nsv457519 16 72222249 72599222 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534689 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00552 esv275038 16 72243843 72249103 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585855 S 1250 0 1 "" esv22823 16 72256927 72258261 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12996 S 451 0 2 "" NA18907,NA19114 nsv525676 16 72298286 72306271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701833 S 2026 0 1 "" esv9241 16 72326045 72326156 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31682 S 1 1 0 "" SJK dgv899e1 16 72330599 72332356 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21898,esv1164 M 271 0 0 "" NA10838 nsv827735 16 72387304 72388810 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430959 S 31 0 1 "" AK16 nsv906902 16 72389017 72424503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554336 S 6533 0 1 "" MS20741 nsv833275 16 72398500 72601213 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452852 S 95 0 1 "" nsv525758 16 72456853 72610057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701926 S 2026 0 1 "" esv274061 16 72464816 72464930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579272,essv2579485 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268764 16 72464831 72465052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512631,essv2506419,essv2512000 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA19108,NA19238 esv27903 16 72472694 72473224 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10788 S 451 0 1 "" NA12776 nsv1872 16 72473951 72509291 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1321 S 9 1 0 "" NA19240 nsv1873 16 72531877 72558781 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7277 S 9 0 1 "" NA12156 nsv103234 16 72538814 72538881 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121812 M 24 "" nsv523872 16 72544272 72550553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699713 S 2026 0 1 "" nsv523276 16 72617272 72619704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699010 S 2026 0 1 "" nsv1874 16 72626662 72671701 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7278 S 9 0 1 "" NA12156 nsv526777 16 72628133 72666395 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703129 S 2026 1 0 "" nsv819247 16 72643741 72646152 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419427 S 2 1 0 "" AK1 nsv103308 16 72701669 72701669 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121886 M 24 "" nsv519670 16 72714957 72720052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657494,nssv692706,nssv686597,nssv679197,nssv672919 M 2026 0 5 "" esv23100 16 72760674 72761805 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21057 S 451 0 1 "" NA18505 nsv833276 16 72773566 72996369 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452854,nssv1452853 M 95 0 2 LOC283922,PSMD7 nsv1875 16 72814032 72849337 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4225 S 9 1 0 "" NA12878 nsv1876 16 72829055 72874014 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7279 S 9 0 1 "" NA12156 esv2467490 16 72846375 72847922 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298130 S 1 0 1 "" NA18507 esv1996613 16 72846748 72847441 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522045 S 1 0 1 "" NA18507 esv24574 16 72855989 72857342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12920 S 451 0 1 "" NA12239 dgv900e1 16 72892281 73055707 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2982,essv5255,essv6177,essv11731,essv7194,essv18232,essv4229,essv16547,essv4793,essv16421,essv1995 M 271 0 0 CLEC18B,GLG1,LOC283922,PSMD7 NA12057,NA18532,NA18547,NA18603,NA18620,NA18624,NA18949,NA18981,NA19139,NA19154,NA19210 dgv901e1 16 72892281 73144686 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16822,essv13136,essv12323,esv65,essv13087,essv13888 M 271 0 0 CLEC18B,GLG1,LOC283922,PSMD7 NA18852,NA18854,NA19102,NA19138,NA19205 nsv833277 16 72892288 73055634 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452855,nssv1452856,nssv1452857,nssv1452858 M 95 0 4 CLEC18B,GLG1,LOC283922,PSMD7 esv22159 16 72894547 73021767 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10189,esv16192,esv13915,esv18427,esv16662 M 451 6 4 CLEC18B,LOC283922,PSMD7 NA07037,NA12004,NA12239,NA12878,NA18502,NA18508,NA18523,NA18907,NA19099,NA19108 nsv827736 16 72894547 73021767 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428690,nssv1439329 M 31 2 0 CLEC18B,LOC283922,PSMD7 AK10,NA18973 nsv509632 16 72903043 73063016 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619695 S 4 1 0 CLEC18B,GLG1,LOC283922 NA10860 nsv819754 16 72917878 73022634 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418769 S 2 0 1 CLEC18B,LOC283922 AK1 nsv9457 16 72918157 73022647 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24352,nssv23440,nssv24489,nssv24645,nssv26527,nssv26541,nssv21892,nssv26747,nssv26483,nssv21862,nssv24671,nssv23606,nssv23958,nssv25113 M 31 1 10 Samples from several populations that are part of the HapMap project. CLEC18B,LOC283922 NA11830,NA12155,NA12740,NA18502,NA18552,NA18564,NA18942,NA18972,NA19132,NA19144,NA19173 nsv821370 16 72919607 72965320 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419889 S 1 1 0 LOC283922 NA10851 nsv827737 16 72923539 72965320 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435466,nssv1422658 M 31 1 1 LOC283922 NA18547,NA18942 nsv827738 16 72923539 72983204 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440697 S 31 1 0 LOC283922 NA18564 dgv488n67 16 72923539 73012976 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827739,nsv827743 M 31 0 5 CLEC18B,LOC283922 NA18526,NA18947,NA18949,NA18951,NA18972 dgv2911n71 16 72923752 73021300 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906904,nsv906903 M 6533 3 0 CLEC18B,LOC283922 IS31286,SP50182,SP50904 dgv489n67 16 72931307 72965320 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827741,nsv827740 M 31 0 2 LOC283922 AK2,AK20 esv32572 16 72931572 73012790 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101597,essv98896,essv97548,essv94398,essv101686,essv100581 M 51 6 0 CLEC18B,LOC283922 21603,21606,21616,21808,21909,22298 esv996603 16 72940041 72983204 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587093 S 3 0 1 LOC283922 HuRef nsv442726 16 72953795 73009537 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CLEC18B,LOC283922 nsv833278 16 72973445 73141624 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452860,nssv1452859 M 95 0 2 CLEC18B,GLG1 nsv821530 16 72987382 73021604 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419890 S 1 1 0 CLEC18B NA10851 nsv833279 16 73048247 73220574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452862,nssv1452861 M 95 0 2 GLG1,RFWD3 nsv906905 16 73085119 73236745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563304 S 6533 1 0 GLG1,RFWD3 MS25950 esv32537 16 73143239 73150640 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99174 S 51 1 0 GLG1 22275 esv275138 16 73205296 73280408 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585176,essv2586071 M 1250 1 1 MLKL,RFWD3 nsv906906 16 73222244 73363169 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518398 S 6533 1 0 FA2H,MLKL,RFWD3 SP57545 nsv906907 16 73259755 73343403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530846 S 6533 0 1 FA2H,MLKL MS10311 nsv517513 16 73301237 73370177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669555,nssv683889,nssv665558,nssv696370,nssv688466,nssv652240,nssv652381,nssv667941 M 2026 0 8 FA2H nsv457520 16 73316485 73464941 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534690 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FA2H HGDP00538 esv1002594 16 73400704 73402507 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565122 S 3 1 0 "" HuRef nsv833280 16 73413312 73634728 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452863 S 95 0 1 WDR59,ZNRF1 esv2121282 16 73425138 73425653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643295 S 1 0 1 "" NA18507 esv989673 16 73429303 73429303 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581769 S 3 1 0 "" HuRef esv1674609 16 73429350 73429350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045130 S 2 1 0 "" HuRef nsv516231 16 73431014 73433447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656568,nssv661804,nssv679277,nssv666968,nssv696371,nssv654884 M 2026 0 6 "" nsv526213 16 73431014 73547562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702477 S 2026 0 1 WDR59 nsv507824 16 73442442 73448442 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617915,nssv619172 M 4 2 0 "" CHM,NA10860 nsv510420 16 73522747 73528747 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622263 S 4 0 1 WDR59 NA10860 nsv906908 16 73583049 73681495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553090 S 6533 0 1 ZNRF1 MS19721 nsv103814 16 73635206 73639358 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122392 M 24 ZNRF1 nsv1878 16 73647036 73658919 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10098 S 9 1 0 ZNRF1 NA18956 esv3003 16 73652781 73653084 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25444 S 1 0 1 Single Asian sample YH ZNRF1 YH esv1789347 16 73652891 73652968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954056 S 2 0 1 ZNRF1 HuRef nsv833282 16 73711672 73888135 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452865,nssv1452864,nssv1452866 M 95 2 1 BCAR1,CFDP1,CTRB1,CTRB2,ZFP1 nsv7286 16 73758498 73855716 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2149,nssv9533,nssv9534,nssv10961,nssv1322,nssv2150,nssv9318,nssv10099,nssv5615,nssv1323,nssv10100,nssv6679,nssv5614,nssv6680,nssv4227,nssv4226 M 9 0 0 BCAR1,CTRB1,CTRB2,ZFP1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv516504 16 73780992 73863903 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668725,nssv697410,nssv704708,nssv673339,nssv669596,nssv675086,nssv697679 M 2026 1 6 BCAR1,CTRB1,CTRB2 nsv523405 16 73785470 73900347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699156 S 2026 0 1 BCAR1,CFDP1,CTRB1,CTRB2 dgv2912n71 16 73793655 73878328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906912,nsv906910,nsv906909 M 6533 0 4 BCAR1,CTRB1,CTRB2 IS40799,MS10311,MS13770,MS17208 dgv51n16 16 73795432 73815672 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436666,nsv436700 M 2 0 0 CTRB1,CTRB2 NA18505 nsv482197 16 73795496 73798573 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558558 S 1 1 0 CTRB2 KB1 esv2504659 16 73795974 73814712 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384959 S 1 0 0 CTRB1,CTRB2 NA18507 dgv20n50 16 73796039 73815675 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513708,nsv513707 M 1 0 0 CTRB1,CTRB2 1 esv1000574 16 73796628 73815529 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564835 S 3 0 0 CTRB1,CTRB2 HuRef esv1356452 16 73797599 73814159 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208395 S 2 0 0 CTRB1,CTRB2 HuRef dgv25n47 16 73797600 73814719 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499144,nsv499784 M 9 0 0 CTRB1,CTRB2 nsv149 16 73806806 73844683 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv149 S 1 0 0 BCAR1,CTRB1 NA15510 nsv906911 16 73810027 73853748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575150 S 6533 0 1 BCAR1,CTRB1 IS33684 nsv482198 16 73810385 73816322 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558559 S 1 1 0 CTRB1 KB1 nsv906913 16 73825244 73863903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510940 S 6533 0 1 BCAR1 SP54988 nsv471095 16 73827034 73878328 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545333 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BCAR1 HGDP00703 nsv9459 16 73831668 73835001 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25491 S 31 1 0 Samples from several populations that are part of the HapMap project. BCAR1 NA19240 nsv833283 16 73859676 73949809 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452867 S 95 0 1 CFDP1 esv1996027 16 73875678 73876091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719727 S 1 0 1 "" NA18507 nsv1879 16 73902081 73936793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4228 S 9 1 0 CFDP1 NA12878 esv2422358 16 73939263 74014264 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161262 S 181 1 0 CFDP1 ND00728 nsv1880 16 73955342 73984627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10102 S 9 1 0 CFDP1 NA18956 nsv525232 16 73959862 73996633 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701321 S 2026 1 0 CFDP1 nsv525466 16 73959862 73996633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701594 S 2026 0 1 CFDP1 dgv902e1 16 73977115 74134472 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14329,esv209,essv12153 M 271 0 0 CFDP1,CHST5,CHST6,TMEM170A,TMEM231 NA19101,NA19194 nsv512445 16 73986646 73988780 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625039 S 1 0 1 CFDP1 1 nsv820364 16 73987134 73988202 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419891 S 1 0 1 CFDP1 NA10851 nsv827744 16 73987134 73988202 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422217 S 31 1 0 CFDP1 NA18997 dgv490n67 16 73987257 73988202 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827745,nsv827746 M 31 3 2 CFDP1 AK4,NA18552,NA18949,NA18968,NA18973 esv991799 16 73987390 73988077 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586960 S 3 1 0 CFDP1 HuRef nsv827747 16 73987390 73988077 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429455,nssv1440698,nssv1433282,nssv1436374,nssv1431685 M 31 0 5 CFDP1 AK12,AK18,NA18564,NA18592,NA18972 nsv103341 16 73987406 73988247 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121919 M 24 CFDP1 esv32560 16 74023266 74028956 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99398 S 51 0 1 CFDP1 22335 nsv516019 16 74024197 74030833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683339,nssv693493,nssv657988,nssv671569,nssv660559,nssv687105,nssv671442,nssv665764,nssv669011,nssv668952,nssv690364,nssv692119 M 2026 0 12 CFDP1 nsv521596 16 74024197 74044149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698213 S 2026 0 1 CFDP1,TMEM170A nsv525955 16 74030833 74185846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702163 S 2026 0 1 CHST5,CHST6,GABARAPL2,TMEM170A,TMEM231 nsv9460 16 74033190 74037051 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24378,nssv25138 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA12155,NA19173 nsv457521 16 74045259 74161426 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534691 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHST5,CHST6,GABARAPL2,TMEM170A,TMEM231 HGDP00538 esv998685 16 74057678 74061994 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564172 S 3 1 0 "" HuRef esv1007873 16 74070039 74070549 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586798 S 3 1 0 CHST6 HuRef nsv516675 16 74086012 74129513 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658429,nssv654519,nssv671774,nssv696328,nssv681159,nssv702681,nssv694894,nssv687749,nssv670094,nssv690444,nssv676531,nssv694271 M 2026 11 1 CHST5,CHST6 dgv2913n71 16 74086012 74136734 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906915,nsv906914,nsv906916,nsv906919 M 6533 21 0 CHST5,CHST6,TMEM231 IS31039,IS31799,IS33211,IS33351,IS34531,IS35297,IS37338,IS39916,IS40039,IS40603,MS13548,MS17114,MS18537,MS25294,SP51200,SP51449,SP52328,SP53368,SP54312,SP54994,SP81099 nsv906917 16 74086012 74138661 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576363,nssv1530237,nssv1527974,nssv1525102,nssv1596498,nssv1595880,nssv1570969,nssv1599063 M 6533 7 1 CHST5,CHST6,TMEM231 IS32382,IS34025,IS40347,IS40538,IS40956,MS10280,SP55500,SP81092 esv2647265 16 74089532 74130969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206422 S 1 0 1 CHST5,TMEM231 NA18507 nsv906918 16 74089545 74131385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516742 S 6533 0 1 CHST5,TMEM231 SP56926 esv29093 16 74089878 74090533 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12902 S 451 0 1 "" NA19240 nsv9461 16 74093624 74133683 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27063 S 31 1 0 Samples from several populations that are part of the HapMap project. CHST5,TMEM231 NA18860 nsv436838 16 74095732 74131119 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465580 S 2 1 0 Samples from several populations that are part of the HapMap project. CHST5,TMEM231 NA18505 dgv491n67 16 74095943 74138214 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827749,nsv827748,nsv827750 M 31 3 0 CHST5,TMEM231 NA18566,NA18951,NA18997 dgv2914n71 16 74096937 74141000 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906922,nsv906924,nsv906923,nsv906921,nsv906920 M 6533 31 0 CHST5,TMEM231 IS30506,IS31758,IS31825,IS32761,IS32766,IS34484,IS34742,IS35342,IS35691,IS35974,IS36975,IS38093,IS38577,IS38754,IS39356,IS40103,IS40247,IS41013,IS41801,IS41950,MS11307,MS12212,MS15906,MS16039,MS20196,MS22114,MS23958,SP53051,SP56116,SP56342,SP56788 dgv352n27 16 74097386 74145467 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457525,nsv457524,nsv457523,nsv457526,nsv457527,nsv457522 M 1557 6 0 CHST5,TMEM231 HGDP00017,HGDP00629,HGDP00738,HGDP00912,HGDP00913,HGDP00924 nsv906925 16 74107386 74128750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510151 S 6533 0 1 CHST5 SP54956 nsv906926 16 74107386 74137618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509535 S 6533 1 0 CHST5,TMEM231 SP54816 nsv442728 16 74115584 74133500 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CHST5,TMEM231 nsv817738 16 74115984 74129513 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418513,nssv1418512 M 112 2 0 CHST5 NA19192,NA19194 dgv10e24 16 74116046 74137638 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750606,esv2750623,esv2750743 M 51 0 3 CHST5,TMEM231 21693,21802,21847 nsv103830 16 74117549 74117549 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122408 M 24 "" nsv906927 16 74117917 74138661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552600 S 6533 1 0 CHST5,TMEM231 MS19517 nsv906928 16 74123346 74137618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513224 S 6533 1 0 CHST5,TMEM231 SP55695 nsv906929 16 74127240 74152419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544513 S 6533 0 1 TMEM231 MS16361 esv272518 16 74212636 74212891 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579146,essv2579818 M 7 2 0 Samples from several populations that are part of the HapMap project. ADAT1 NA19239,NA19240 nsv1881 16 74243715 74276942 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7280 S 9 1 0 TERF2IP NA12156 nsv906930 16 74285762 74429965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558572 S 6533 0 1 "" MS23376 nsv906931 16 74456142 74563413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596968 S 6533 0 1 "" IS40680 dgv2915n71 16 74456142 74626630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906933,nsv906932 M 6533 0 2 "" SP54350,SP81538 nsv528716 16 74479671 74554851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705366 S 2026 0 1 "" nsv510421 16 74531341 74537341 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618418 S 4 0 1 "" CHM esv2608489 16 74540665 74542020 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328899 S 1 0 1 "" NA18507 nsv827751 16 74559556 74576368 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430096 S 31 0 1 "" NA18968 nsv817739 16 74563413 74576356 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417512 S 112 0 1 "" NA18968 esv34693 16 74566800 74579034 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980197,essv6980198 M 771 0 1 "" NA18968 dgv903e1 16 74567282 74579010 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1712,esv918 M 271 0 0 "" NA18968 dgv167n21 16 74578601 74612987 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521196,nsv520681 M 2026 0 2 "" nsv906934 16 74579199 74626630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598954 S 6533 0 1 "" IS40886 nsv906935 16 74589238 75010611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534492 S 6533 1 0 CNTNAP4 MS11632 nsv906936 16 74589238 75325679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544949 S 6533 1 0 CNTNAP4 MS16607 nsv1882 16 74589698 74641087 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10103,nssv1324,nssv6681,nssv2151 M 9 4 0 "" NA12156,NA18555,NA18956,NA19240 nsv509633 16 74611225 74637213 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619696,nssv623702,nssv621033,nssv618120 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv993566 16 74612548 74614187 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565502 S 3 1 0 "" HuRef nsv833284 16 74615242 74763490 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452868,nssv1452869 M 95 2 0 "" nsv906937 16 74634795 74720550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577914 S 6533 0 1 "" IS34599 esv268523 16 74658493 74658960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501091,essv2494925,essv2509024,essv2513250,essv2509540,essv2498798,essv2497493 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18520,NA18522,NA18907,NA19129,NA19138,NA19147 esv268912 16 74662843 74662986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510537,essv2494364,essv2493301,essv2494734,essv2494111,essv2493545 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18504,NA18519,NA18871,NA19137 nsv833285 16 74693846 74902899 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452870 S 95 1 0 CNTNAP4 nsv515492 16 74701279 74705277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668475,nssv684864,nssv653304,nssv662622 M 2026 0 4 "" esv3665 16 74726115 74726423 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26106 S 1 0 1 Single Asian sample YH "" YH nsv103346 16 74726150 74726254 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121924 M 24 "" nsv524334 16 74727232 74754535 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700241 S 2026 0 1 "" dgv2916n71 16 74731689 74850593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906938,nsv906939 M 6533 0 2 "" IS31205,IS32150 nsv471096 16 74744492 74788279 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545334 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00874 nsv518235 16 74760783 74768987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695664 S 2026 0 1 "" nsv520847 16 74771490 74788279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697647 S 2026 0 1 "" nsv833286 16 74801231 75001784 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452871 S 95 1 0 CNTNAP4 dgv2917n71 16 74804993 74866582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906941,nsv906940,nsv906942 M 6533 0 5 "" IS30522,IS31044,IS31768,IS41094,MS11467 esv22370 16 74807788 74808609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17315 S 451 0 1 "" NA07045 dgv353n27 16 74808776 74850895 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457531,nsv457532 M 1557 0 2 "" 1780854462_A,HGDP00716 nsv471097 16 74809889 74853099 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545336,nssv545335 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890,HGDP01061 dgv904e1 16 74819177 74829497 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1428,essv5762 M 271 0 0 "" NA18540 nsv9462 16 74822628 74849251 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28119 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv520999 16 74829069 74835396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697729 S 2026 0 1 "" nsv457536 16 74829069 74853099 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534701 S 1557 0 1 "" NINDS_178 esv1125059 16 74852413 74852533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062115 S 2 0 1 "" HuRef esv271166 16 74892176 74892459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511192,essv2500183,essv2504290,essv2506601 M 157 4 0 Samples from several populations that are part of the HapMap project. CNTNAP4 NA11931,NA12006,NA18505,NA19108 nsv518584 16 74913896 74924687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696031 S 2026 0 1 CNTNAP4 esv268757 16 74950841 74951681 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511893,essv2509668,essv2496293,essv2509516 M 157 4 0 Samples from several populations that are part of the HapMap project. CNTNAP4 NA18499,NA18508,NA18511,NA19129 nsv906943 16 74971258 75325679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559015 S 6533 1 0 CNTNAP4 MS23670 nsv457537 16 74976212 75001854 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534702 S 1557 0 1 CNTNAP4 1782681093_A nsv457538 16 74988028 75010544 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534703 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTNAP4 HGDP00088 nsv518437 16 75001854 75007489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695873 S 2026 0 1 CNTNAP4 esv22369 16 75007422 75008779 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16318 S 451 0 1 CNTNAP4 NA12749 esv267508 16 75014036 75014378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519023,essv2513845 M 157 2 0 Samples from several populations that are part of the HapMap project. CNTNAP4 NA19141,NA19143 nsv833287 16 75040324 75223927 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452872,nssv1452873 M 95 2 0 CNTNAP4 nsv1883 16 75076716 75120613 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2152,nssv4229,nssv6682 M 9 0 3 CNTNAP4 NA12156,NA12878,NA18555 nsv906944 16 75078737 75325679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534493 S 6533 1 0 CNTNAP4 MS11632 nsv511568 16 75092843 75102259 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626194 S 1 0 1 CNTNAP4 1 nsv819599 16 75095688 75101449 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419733 S 2 0 1 CNTNAP4 AK1 nsv511051 16 75096234 75109924 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618626 S 4 0 0 CNTNAP4 CHM esv990642 16 75096279 75101615 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565119 S 3 0 1 CNTNAP4 HuRef nsv512446 16 75096534 75101542 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625040 S 1 0 1 CNTNAP4 1 esv4230 16 75096554 75101642 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26671 S 1 0 1 Single Asian sample YH CNTNAP4 YH dgv60e180 16 75096634 75101530 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989434,esv989330 M 3 0 1 CNTNAP4 HuRef esv29767 16 75096634 75101530 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12669 S 451 0 22 CNTNAP4 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA19099,NA19114 esv8906 16 75096643 75101525 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31347 S 1 0 1 CNTNAP4 SJK dgv492n67 16 75096826 75101065 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827752,nsv827754 M 31 0 30 CNTNAP4 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514815 16 75097024 75100928 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628267 S 1414 0 1 CNTNAP4 esv2422474 16 75101609 75683063 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161292 S 181 0 1 CNTNAP4,MIR4719 ND04312 nsv906945 16 75105130 75170251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591299 S 6533 1 0 CNTNAP4 IS38670 nsv906946 16 75139103 75170251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581593 S 6533 1 0 CNTNAP4 IS35646 nsv528144 16 75154359 75155458 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704691 S 2026 1 0 "" esv2642472 16 75155476 75159536 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213832 S 1 0 1 "" NA18507 esv2006606 16 75156235 75159244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574356 S 1 0 1 "" NA18507 esv25734 16 75156455 75159014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20979 S 451 0 1 "" NA19129 nsv527859 16 75163254 75280001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704357 S 2026 0 1 "" nsv833288 16 75178859 75342698 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452874 S 95 1 0 "" nsv517913 16 75193464 75198204 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695324 S 2026 1 0 "" esv2457507 16 75208000 75209495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381180 S 1 0 1 "" NA18507 esv23005 16 75219050 75228683 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13448 S 451 0 1 "" NA18916 nsv442729 16 75224186 75226991 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514816 16 75225112 75225968 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628268 S 1414 0 1 "" nsv906947 16 75239764 75718127 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535668 S 6533 1 0 MIR4719 MS12365 nsv827755 16 75244627 75344203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426307 S 31 0 1 "" NA18969 esv26673 16 75273894 75276659 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11052 S 451 0 1 "" NA11993 nsv457539 16 75335165 75639177 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534704 S 1557 0 1 MIR4719 NINDS_163 nsv906948 16 75401656 75562688 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574968 S 6533 0 1 MIR4719 IS33676 nsv1884 16 75414341 75426945 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9535 S 9 1 0 "" NA18507 nsv833289 16 75418543 75576397 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452875 S 95 1 0 MIR4719 nsv524352 16 75446472 75492651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700261 S 2026 0 1 MIR4719 esv270485 16 75457481 75457724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511006,essv2501667,essv2508853,essv2500261,essv2502844,essv2511832,essv2509372,essv2498185,essv2511573 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11831,NA12144,NA12878,NA12891,NA12892,NA18499,NA18953,NA19240 esv274207 16 75457504 75457655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580518 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv1885 16 75458565 75489855 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4230 S 9 1 0 MIR4719 NA12878 nsv833290 16 75463192 75644638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452876 S 95 1 0 "" nsv507825 16 75464389 75470389 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619173,nssv620608 M 4 2 0 "" NA10860,NA15510 nsv906949 16 75472997 75527099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517611 S 6533 0 1 "" SP57328 nsv906950 16 75501858 75541270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544737 S 6533 0 1 "" MS16459 nsv906951 16 75501858 75602898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558490 S 6533 0 1 "" MS23290 nsv906952 16 75501858 75713218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555098 S 6533 1 0 "" MS21189 nsv521663 16 75527099 75649112 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698281 S 2026 0 1 "" esv271134 16 75546796 75547153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496876,essv2509930,essv2506013,essv2493976,essv2509279,essv2510425 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18523,NA18871,NA18909,NA19172 nsv507826 16 75572220 75578220 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623216,nssv619174 M 4 2 0 "" NA10860,NA18994 nsv511564 16 75638890 75651012 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626190 S 1 0 1 "" 1 nsv512447 16 75647188 75650514 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625041 S 1 0 1 "" 1 esv989264 16 75647287 75655567 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565748 S 3 0 1 "" HuRef esv27074 16 75648508 75650440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14668 S 451 0 7 "" NA07037,NA12006,NA12044,NA12239,NA12489,NA15510,NA19257 nsv906953 16 75682603 75709835 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593800 S 6533 1 0 "" IS39521 esv274266 16 75690937 75691303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579375 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 dgv2918n71 16 75755134 75784681 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906955,nsv906954 M 6533 5 0 MON1B SP50179,SP52172,SP52717,SP54399,SP54561 nsv827756 16 75756289 75783313 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434027,nssv1423807 M 31 2 0 MON1B NA18526,NA18999 nsv442403 16 75758984 75780371 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817741 16 75760202 75768840 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417501 S 112 1 0 "" NA18965 nsv103008 16 75764240 75768306 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121586 M 24 "" esv25858 16 75782090 75784512 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11803 S 451 0 1 MON1B NA12239 nsv523187 16 75784681 75787158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698902 S 2026 0 1 MON1B nsv103185 16 75807158 75809976 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121763 M 24 "" nsv524636 16 75816093 75854694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700601 S 2026 0 1 "" nsv517260 16 75821218 75823175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700407,nssv670095,nssv654151 M 2026 0 3 "" nsv526384 16 75821218 75826436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702682 S 2026 0 1 "" nsv1886 16 75833306 75866072 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4231 S 9 1 0 "" NA12878 nsv906956 16 75834791 75866536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502346 S 6533 0 1 "" SP51016 nsv457541 16 75911474 75946503 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534706 S 1557 0 1 ADAMTS18 1782681091_A esv1576922 16 75925266 75925437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162434 S 2 0 1 ADAMTS18 HuRef esv2751613 16 75930540 76002373 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984747,essv6984746,essv6984745,essv6990015 M 771 0 1 ADAMTS18 SPC_173 esv999396 16 75979532 75987828 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565802 S 3 0 1 ADAMTS18 HuRef nsv906957 16 76014567 76200922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526774 S 6533 1 0 ADAMTS18 SP57789 nsv521833 16 76073764 76376942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694606 S 2026 0 1 NUDT7 nsv906958 16 76093144 76242030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590360 S 6533 0 1 "" IS38496 esv33018 16 76113788 76115434 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101601,essv95160,essv98221,essv95708 M 51 0 4 "" 21603,21721,21772,21841 esv1083059 16 76121963 76121963 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802493 S 2 1 0 "" HuRef nsv833291 16 76151117 76185463 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452878,nssv1452877 M 95 1 1 "" nsv906959 16 76165811 76214621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588109 S 6533 1 0 "" IS38153 nsv906960 16 76189021 76221469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573144,nssv1578620,nssv1581443,nssv1571430 M 6533 0 4 "" IS32736,IS33243,IS34820,IS35573 nsv102948 16 76210666 76216793 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121526 M 24 "" nsv906961 16 76231098 76285736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566436 S 6533 0 1 "" IS30720 nsv457542 16 76251592 76318899 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534707 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NUDT7 HGDP00677 nsv471098 16 76255251 76318899 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545337 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NUDT7 HGDP00677 nsv437808 16 76260141 76270643 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467689 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv457543 16 76285736 76567948 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534708 S 1557 1 0 NUDT7,VAT1L 1780862176_A esv2463388 16 76305768 76312277 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223400 S 1 0 1 "" NA18507 esv24842 16 76306856 76312265 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16638 S 451 2 0 "" NA18511,NA19129 nsv827757 16 76307793 76312091 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432482 S 31 1 0 "" AK20 esv2470760 16 76346264 76346656 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197568 S 1 1 0 "" NA18507 nsv906962 16 76402832 76698765 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555519 S 6533 1 0 CLEC3A,VAT1L,WWOX MS21397 esv2618540 16 76406849 76407630 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332622 S 1 1 0 VAT1L NA18507 esv1635984 16 76407320 76407320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003352 S 2 1 0 VAT1L HuRef nsv510422 16 76423682 76429682 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618419 S 4 0 1 VAT1L CHM esv1937488 16 76436304 76436761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584623 S 1 0 1 VAT1L NA18507 esv2618898 16 76436497 76436579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285772 S 1 0 1 VAT1L NA18507 dgv2919n71 16 76448186 77327289 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906965,nsv906963 M 6533 2 0 CLEC3A,VAT1L,WWOX MS18112,SP55352 esv6734 16 76463988 76465867 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29175 S 1 0 1 VAT1L SJK nsv906964 16 76486477 76607720 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575955 S 6533 1 0 VAT1L IS33839 nsv833293 16 76524155 76726189 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452879,nssv1452880 M 95 2 0 CLEC3A,VAT1L,WWOX nsv1887 16 76531376 76562452 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4232 S 9 1 0 VAT1L NA12878 nsv518329 16 76535125 76535568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695759 S 2026 0 1 VAT1L esv28896 16 76535300 76537509 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16087 S 451 0 1 VAT1L NA12006 nsv528395 16 76535568 76547275 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704985 S 2026 1 0 VAT1L nsv103488 16 76536693 76537195 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122066 M 24 VAT1L nsv103420 16 76536693 76537689 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121998 M 24 VAT1L nsv827758 16 76594721 76595446 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434028 S 31 0 1 "" NA18526 nsv817742 16 76619660 76629008 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418515,nssv1418516 M 112 2 0 CLEC3A NA19192,NA19194 dgv2920n71 16 76622640 76656958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906966,nsv906967 M 6533 0 2 CLEC3A SP54680,SP54905 nsv102979 16 76625804 76625999 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121557 M 24 "" nsv906968 16 76640978 77079685 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584246 S 6533 1 0 WWOX IS36911 nsv520613 16 76646877 76649999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682926,nssv675869,nssv673237 M 2026 0 3 "" nsv520408 16 76709247 76728809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671227,nssv680768 M 2026 0 2 WWOX esv26564 16 76729164 76729811 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14508 S 451 0 4 WWOX NA11894,NA12006,NA18858,NA19129 dgv2921n71 16 76757779 76800885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906970,nsv906969 M 6533 0 2 WWOX SP50761,SP55424 nsv817743 16 76771256 76773668 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417625 S 112 0 1 WWOX NA18987 esv2500903 16 76784423 76785146 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186617 S 1 1 0 WWOX NA18507 esv988047 16 76784947 76784947 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571049 S 3 1 0 WWOX HuRef nsv457544 16 76800885 76978383 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534709 S 1557 0 1 WWOX 1780862388_A dgv905e1 16 76811430 76974815 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16844,esv584,essv11267 M 271 0 0 WWOX NA19204,NA19205 nsv518922 16 76837677 76988778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696383 S 2026 0 1 WWOX dgv906e1 16 76848674 76948718 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9959,essv15916 M 271 0 0 WWOX NA19204,NA19205 nsv526983 16 76849354 76853299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703356 S 2026 0 1 WWOX nsv521493 16 76860767 77330083 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698104 S 2026 1 0 WWOX nsv906971 16 76866441 77021013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600321,nssv1564835 M 6533 0 2 WWOX IS30308,IS41869 nsv906972 16 76869274 76918164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536165 S 6533 0 1 WWOX MS12642 nsv507827 16 76915421 76921421 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623217,nssv619175 M 4 2 0 WWOX NA10860,NA18994 nsv150 16 76916517 76969258 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv150 S 1 0 1 WWOX NA15510 nsv1889 16 76916517 76969258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10962,nssv9536,nssv6684 M 9 0 3 WWOX NA12156,NA15510,NA18507 esv2484984 16 76926875 76942549 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243657 S 1 0 1 WWOX NA18507 nsv906973 16 76927191 77021013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535258 S 6533 0 1 WWOX MS12103 nsv820088 16 76927449 76942067 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418645 S 2 1 0 WWOX AK1 nsv9463 16 76928609 76942962 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27073,nssv21922,nssv24697,nssv26758,nssv26672,nssv28121,nssv24404,nssv21221,nssv25885,nssv23757,nssv23634,nssv22614,nssv25193,nssv26585,nssv25514,nssv23046,nssv23908,nssv20689,nssv23241,nssv23810,nssv26497,nssv23468,nssv24515 M 31 21 2 Samples from several populations that are part of the HapMap project. WWOX NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2570625 16 76928704 76943281 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329406 S 1 0 1 WWOX NA18507 nsv436215 16 76928828 76942620 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465581 S 2 0 1 Samples from several populations that are part of the HapMap project. WWOX NA18505 esv2076042 16 76928949 76942596 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720275 S 1 0 1 WWOX NA18507 dgv493n67 16 76929024 76942626 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827760,nsv827759 M 31 0 3 WWOX NA18582,NA18969,NA18999 nsv820565 16 76929024 76942626 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419892 S 1 0 1 WWOX NA10851 dgv61e180 16 76929120 76941790 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994312,esv1011104 M 3 1 0 WWOX HuRef esv22307 16 76929120 76942453 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12208,esv15379,esv11065 M 451 16 7 WWOX NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA18502,NA18508,NA18517,NA18523,NA18907,NA19099,NA19147,NA19190,NA19225,NA19240,NA19257 nsv498865 16 76929139 76942400 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585726 S 9 0 1 WWOX esv32778 16 76929222 76941603 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101574,essv101268,essv93937,essv100912,essv95136,essv98179,essv94777,essv94080,essv101391,essv97826,essv95518,essv93066,essv95406,essv95811,essv92744,essv96628,essv97282,essv98571,essv100078,essv94870,essv92563,essv100530,essv99466,essv98480 M 51 13 11 WWOX 21603,21618,21634,21656,21721,21772,21791,21802,21805,21837,21847,21863,21872,21911,21944,22011,22075,22085,22086,22231,22233,22298,22335,22352 nsv514817 16 76929536 76941632 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628270 S 1414 0 1 WWOX nsv827761 16 76929698 76932829 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427890 S 31 1 0 WWOX AK8 essv11375 16 76929719 76974815 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. WWOX NA19127 nsv442730 16 76929941 76942266 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 WWOX dgv494n67 16 76949565 76950258 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827763,nsv827762 M 31 2 0 WWOX NA18566,NA18972 esv32565 16 76950127 76950765 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100001 S 51 0 1 WWOX 22086 esv2044269 16 76951845 76952231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703645 S 1 0 1 WWOX NA18507 esv1604147 16 76952016 76952107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747462 S 2 0 1 WWOX HuRef nsv457545 16 76966681 76988778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534710 S 1557 0 1 WWOX 1798860102_A nsv510423 16 77022893 77028893 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618420 S 4 0 1 WWOX CHM nsv1890 16 77026930 77058754 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6685 S 9 1 0 WWOX NA12156 nsv906974 16 77050452 77486959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563088 S 6533 0 1 WWOX MS25854 nsv906975 16 77077546 77215086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506557 S 6533 0 1 WWOX SP54373 esv24596 16 77082666 77097508 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14755,esv19764,esv19390 M 451 5 0 WWOX NA11894,NA18502,NA18505,NA18517,NA18907 nsv906976 16 77101949 77228455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584247 S 6533 1 0 WWOX IS36911 nsv103172 16 77119415 77119563 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121750 M 24 WWOX nsv1891 16 77129014 77163630 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1325 S 9 1 0 WWOX NA19240 nsv906977 16 77156356 77208321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543145 S 6533 0 1 WWOX MS16060 nsv471099 16 77170415 77418880 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545338 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WWOX HGDP00655 dgv2922n71 16 77193196 77254936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906979,nsv906980,nsv906978 M 6533 0 6 WWOX MS22022,SP52147,SP53051,SP54461,SP55465,SP56304 nsv510424 16 77220309 77226309 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618421,nssv621439,nssv624179 M 4 0 3 WWOX CHM,NA15510,NA18994 nsv457547 16 77225347 77330083 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534711 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WWOX HGDP00139 nsv457548 16 77245645 77418880 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534712 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WWOX HGDP00655 nsv906981 16 77276915 77410183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584248 S 6533 1 0 WWOX IS36911 nsv442404 16 77319838 77327934 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 WWOX nsv827765 16 77320085 77330007 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437805 S 31 0 1 WWOX NA18949 nsv524805 16 77341734 77364835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700797 S 2026 0 1 WWOX nsv906982 16 77341734 77669335 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549154 S 6533 1 0 WWOX MS18112 nsv515915 16 77367799 77370483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683778,nssv687663,nssv693677,nssv657636,nssv665288 M 2026 0 5 WWOX dgv2923n71 16 77374730 77480575 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906986,nsv906983 M 6533 0 2 WWOX MS15715,SP57886 dgv2924n71 16 77382640 77414800 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv906985,nsv906984 M 6533 0 2 WWOX IS31656,IS34931 esv34093 16 77430360 77689239 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 WWOX nsv511576 16 77433428 77435119 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626203 S 1 0 1 WWOX 1 nsv512448 16 77434023 77435284 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625042 S 1 0 1 WWOX 1 nsv827766 16 77434066 77435067 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430644,nssv1422682 M 31 0 2 WWOX NA18547,NA18947 esv21884 16 77434460 77435452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12698 S 451 0 4 WWOX NA11894,NA12287,NA12828,NA12878 nsv457549 16 77468602 77539836 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534713 S 1557 1 0 WWOX 1780854295_A nsv520056 16 77473661 77474340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678532,nssv678729,nssv660332,nssv692606 M 2026 0 4 WWOX nsv906987 16 77486959 77527482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521209 S 6533 0 1 WWOX SP52292 nsv527702 16 77503712 77504088 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704180 S 2026 0 1 WWOX nsv457550 16 77503712 77524436 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534714 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WWOX HGDP00553 esv22641 16 77530470 77535874 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15485 S 451 0 1 WWOX NA12044 nsv906988 16 77557145 77573909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519787 S 6533 0 1 WWOX SP50548 esv34040 16 77564364 77684171 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 WWOX nsv906989 16 77565768 77594823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584249 S 6533 1 0 WWOX IS36911 esv25849 16 77583935 77596703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9892 S 451 0 1 WWOX NA19257 dgv907e1 16 77607617 77626238 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1081,essv14043 M 271 0 0 WWOX NA18862 nsv516971 16 77614257 77626862 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659420,nssv690735,nssv679423,nssv673603,nssv664251,nssv677192,nssv682347,nssv681780,nssv682879,nssv656883,nssv668544,nssv668045,nssv693900,nssv673395,nssv665412,nssv671292,nssv690040,nssv688835,nssv682674,nssv680081,nssv687173,nssv695249,nssv681607,nssv669747,nssv687612,nssv678617,nssv689067,nssv672731,nssv672309,nssv655586,nssv674558,nssv688764,nssv693691,nssv692936,nssv687723,nssv668847,nssv680143,nssv689502,nssv685558,nssv659072,nssv653536,nssv662356,nssv685369,nssv667521,nssv678069,nssv688446,nssv682801,nssv680467 M 2026 2 46 WWOX essv13302 16 77614399 77620657 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. WWOX NA19202 dgv908e1 16 77616627 77620657 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11307,essv7967,essv8558 M 271 0 0 WWOX NA18503,NA18863,NA19203 esv23645 16 77617107 77620526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20628 S 451 0 4 WWOX NA18505,NA18858,NA19114,NA19147 nsv442731 16 77617649 77620658 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 WWOX esv2421992 16 77617653 77620657 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5127370,essv5156883,essv5135946,essv5062391,essv5047530,essv5007661,essv5010444,essv5018531,essv5002157,essv5024412,essv5149995,essv5110243,essv5156307,essv5032419,essv5074556,essv5024421,essv5124035,essv5078493,essv5074869,essv5026390,essv5008436,essv5119125,essv5098534,essv5038695,essv5076231,essv5023673,essv5092097,essv5097131,essv5070823,essv5087659,essv5128830,essv5007901,essv5035805,essv5077135,essv5020377,essv5051734,essv5156044,essv5144036,essv5055135 M 1184 0 39 WWOX NA18497,NA18498,NA18503,NA18505,NA18510,NA18858,NA18862,NA18863,NA18870,NA18912,NA19114,NA19147,NA19148,NA19150,NA19151,NA19178,NA19180,NA19197,NA19198,NA19199,NA19200,NA19202,NA19203,NA19214,NA19215,NA19235,NA19237,NA19310,NA19328,NA19384,NA19473,NA20127,NA20287,NA20288,NA20317,NA20335,NA20337,NA20344,NA20348 nsv514818 16 77617816 77620448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628271 S 1414 0 1 WWOX esv34199 16 77618863 77620000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980469,essv6987796 M 771 0 1 WWOX NA19200 essv8680 16 77618863 77621695 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. WWOX NA18912 essv14812 16 77618863 77626238 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. WWOX NA18870 nsv526802 16 77620360 77632812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703156 S 2026 0 1 WWOX nsv1892 16 77626779 77672263 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5616,nssv6686 M 9 0 2 WWOX NA12156,NA19129 nsv518429 16 77632003 77632812 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695864 S 2026 1 0 WWOX nsv827767 16 77643035 77644584 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434029 S 31 1 0 WWOX NA18526 nsv457553 16 77644298 77653349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534716 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WWOX HGDP00765 nsv523542 16 77649268 77649949 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699320 S 2026 0 1 WWOX esv9270 16 77660539 77660589 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31711 S 1 1 0 WWOX SJK esv999114 16 77742683 77743712 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586194 S 3 0 1 WWOX HuRef nsv518949 16 77758680 77760691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696416 S 2026 0 1 WWOX nsv906990 16 77789947 77809010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513354 S 6533 1 0 WWOX SP55747 nsv517220 16 77824930 77831740 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654050,nssv683537,nssv667876,nssv687750,nssv692750,nssv653210,nssv677320,nssv668953,nssv671346,nssv679619,nssv662424,nssv687106,nssv659659,nssv654342,nssv696558,nssv664548,nssv666191,nssv666367,nssv659819,nssv655235,nssv670780,nssv688447 M 2026 2 20 "" nsv833294 16 77874786 78046026 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452881 S 95 1 0 "" nsv1893 16 77892204 77896128 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5617 S 9 1 0 "" NA19129 nsv528934 16 77899076 77919276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705625 S 2026 0 1 "" esv271152 16 77946338 77946477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512507,essv2511863,essv2494214,essv2513309,essv2504769 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18499,NA18502,NA18907,NA19099 nsv906991 16 77981638 78013998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502588 S 6533 0 1 "" SP51281 nsv528461 16 78125291 78128823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705063 S 2026 0 1 "" nsv833295 16 78126379 78284269 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452882 S 95 1 0 MAF nsv827768 16 78172779 78197595 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428693 S 31 1 0 MAF AK10 nsv827769 16 78185940 78188848 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426529 S 31 1 0 MAF NA18969 nsv819930 16 78190173 78191193 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419153 S 2 1 0 MAF AK1 nsv906992 16 78206895 78327291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554169 S 6533 0 1 "" MS20630 esv274911 16 78220241 78221607 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585454,essv2585378 M 1250 1 1 "" nsv833296 16 78249737 78447228 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452883 S 95 0 1 "" nsv518748 16 78273834 78286532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696197 S 2026 0 1 "" nsv833297 16 78290002 78477920 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452884 S 95 1 0 "" nsv827770 16 78337176 78337989 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426181 S 31 1 0 "" AK4 nsv827771 16 78346760 78348203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436396 S 31 0 1 "" NA18592 nsv1894 16 78351287 78381989 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5618 S 9 1 0 "" NA19129 esv1000277 16 78361528 78361528 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573129 S 3 1 0 "" HuRef esv1279215 16 78361543 78361543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063297 S 2 1 0 "" HuRef esv26186 16 78392506 78395327 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17229,esv19278 M 451 2 0 "" NA19114,NA19225 nsv1895 16 78404074 78432787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1326 S 9 1 0 "" NA19240 esv273429 16 78422162 78422589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580182,essv2580282,essv2580052,essv2579426 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19240 dgv2925n71 16 78441351 78485687 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv906994,nsv906993 M 6533 2 0 "" SP51290,SP53596 esv34919 16 78447460 78480811 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979786,essv6986943 M 771 1 0 "" NA18632 dgv354n27 16 78451238 78483635 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457555,nsv457556 M 1557 2 0 "" HGDP01323,HGDP01326 nsv471100 16 78451238 78483635 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545339 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01326 dgv909e1 16 78452465 78480811 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1327,essv7656 M 271 0 0 "" NA18632 esv998199 16 78522206 78523047 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586895 S 3 0 1 "" HuRef nsv519616 16 78590032 78593233 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660588,nssv674875,nssv657072,nssv693008,nssv673162,nssv671371 M 2026 0 6 "" nsv520894 16 78600307 78607771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677089,nssv691905,nssv690676 M 2026 0 3 "" nsv906995 16 78652476 78724178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598049 S 6533 0 1 "" IS40902 nsv833298 16 78679838 78872104 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452885,nssv1452886 M 95 2 0 "" nsv507828 16 78691098 78697098 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620609,nssv619176,nssv617916 M 4 3 0 "" CHM,NA10860,NA15510 esv25895 16 78748684 78750530 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17541,esv15881 M 451 0 7 "" NA12287,NA18861,NA19129,NA19147,NA19190,NA19225,NA19240 nsv471718 16 78754338 78754541 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv645999 M 1.553 95 "" esv268084 16 78774908 78775237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546504,essv2542538,essv2522808,essv2556604,essv2568135,essv2577370,essv2570743,essv2576634,essv2550530,essv2525231,essv2550279,essv2544257,essv2520295,essv2547337,essv2529383,essv2558446,essv2564693,essv2577971,essv2565410,essv2519986,essv2555103,essv2530807,essv2561848,essv2537231,essv2528360,essv2546680,essv2520796,essv2552332,essv2578629,essv2550238,essv2539180,essv2569821,essv2527286,essv2544898,essv2540306,essv2524562,essv2565166,essv2534908,essv2539614,essv2519752,essv2560128,essv2567923,essv2529062,essv2541487,essv2535890,essv2572263,essv2550920,essv2562522,essv2533855,essv2578276,essv2573217,essv2533682,essv2555543,essv2566441,essv2530096,essv2573961,essv2527679,essv2555924,essv2534294,essv2522398,essv2531546,essv2573410,essv2529780,essv2526419,essv2574670,essv2530297,essv2572737,essv2560223,essv2545819,essv2574200,essv2533240,essv2525141,essv2563529 M 157 73 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA10847,NA11881,NA11919,NA11931,NA11994,NA11995,NA12043,NA12044,NA12154,NA12155,NA12156,NA12234,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18502,NA18510,NA18511,NA18519,NA18520,NA18522,NA18526,NA18552,NA18555,NA18558,NA18561,NA18563,NA18566,NA18570,NA18577,NA18579,NA18592,NA18608,NA18609,NA18858,NA18909,NA18916,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA19093,NA19114,NA19138,NA19141,NA19143,NA19190,NA19239,NA19240 esv273193 16 78774908 78775237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581924,essv2582415,essv2582787,essv2584611,essv2583369 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 nsv906996 16 78787725 78891511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599947 S 6533 0 1 "" IS41818 esv1056441 16 78788288 78788288 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880707 S 2 1 0 "" HuRef esv1602830 16 78788816 78788916 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188566 S 2 0 1 "" HuRef esv271350 16 78817418 78817573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493773,essv2507076,essv2502081 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18870,NA19257 nsv906997 16 78817667 78848662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590602 S 6533 0 1 "" IS38538 nsv827772 16 78828499 78841222 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428694 S 31 1 0 "" AK10 esv1208284 16 78834662 78835382 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977383 S 2 0 1 "" HuRef nsv1896 16 78840831 78874441 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7281 S 9 1 0 "" NA12156 esv1098067 16 78867115 78867115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008561 S 2 1 0 "" HuRef nsv906998 16 78877557 78928603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564632 S 6533 0 1 "" IS30270 esv33683 16 78882804 78891515 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99552 S 51 0 1 "" 22335 nsv906999 16 78893434 78944520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501502 S 6533 0 1 "" SP51037 nsv833299 16 78899246 79107184 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452887,nssv1452889,nssv1452888 M 95 1 2 MIR548H4 nsv521087 16 78937231 78939425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681755,nssv691650 M 2026 0 2 "" nsv457557 16 78962793 79020900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534719 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00187 nsv907000 16 78962793 79030519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564155 S 6533 0 1 "" IS30171 nsv907001 16 78962793 79178112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563669,nssv1534976 M 6533 2 0 DYNLRB2,MIR548H4 MS11867,MS26151 nsv507829 16 78967350 78973350 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619177 S 4 1 0 "" NA10860 nsv509634 16 78989998 79061108 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623703 S 4 1 0 "" NA18994 nsv510692 16 78989998 79061108 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617426 S 4 0 1 "" CHM nsv907002 16 78998921 79068444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577732 S 6533 0 1 "" IS34543 esv1558918 16 79002506 79002506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767110 S 2 1 0 "" HuRef nsv527134 16 79013904 79014185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703521 S 2026 0 1 "" esv2751614 16 79017052 79069150 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989423,essv6989943 M 771 0 1 "" BEC_689 esv2457793 16 79025694 79027163 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210810 S 1 0 1 "" NA18507 esv2374489 16 79025947 79026646 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897210 S 1 0 1 "" NA18507 esv5329 16 79026073 79026600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27770 S 1 0 1 Single Asian sample YH "" YH esv6166 16 79026141 79026433 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28607 S 1 0 1 "" SJK nsv833300 16 79032567 79158537 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452890 S 95 1 0 DYNLRB2,MIR548H4 nsv457558 16 79047632 79060922 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534720 S 1557 0 1 "" NINDS_101 nsv457559 16 79055595 79065122 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534721 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00883 esv2059408 16 79159510 79159992 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745293 S 1 0 1 MIR548H4 NA18507 esv275156 16 79223722 79230205 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585267 S 1250 0 1 CDYL2,MIR548H4 esv268803 16 79254455 79254540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516803,essv2519284,essv2514017,essv2518763,essv2515567,essv2516000,essv2514301,essv2517569,essv2516206,essv2519446 M 157 10 0 Samples from several populations that are part of the HapMap project. CDYL2,MIR548H4 NA07346,NA11881,NA11894,NA12043,NA12045,NA12815,NA12873,NA12874,NA12878,NA12891 esv273920 16 79254466 79254647 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581778,essv2582441 M 7 2 0 Samples from several populations that are part of the HapMap project. CDYL2,MIR548H4 NA12878,NA12891 esv27892 16 79260390 79262679 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10393 S 451 1 0 CDYL2 NA07045 esv33408 16 79263630 79302872 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97581 S 51 0 1 CDYL2 21616 nsv833301 16 79289671 79486252 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452891 S 95 0 1 CDYL2 esv2636902 16 79353930 79355201 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281290 S 1 0 0 CDYL2 NA18507 esv2618788 16 79354218 79355377 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171170 S 1 1 0 CDYL2 NA18507 nsv525885 16 79361491 79365113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702086 S 2026 0 1 CDYL2 nsv523459 16 79361491 79369438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699217 S 2026 0 1 CDYL2 nsv521339 16 79361491 79375929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697947 S 2026 0 1 CDYL2 nsv457560 16 79382707 79415644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534722 S 1557 0 1 CDYL2 1780862415_A esv26401 16 79395444 79395998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18091 S 451 0 1 CDYL2 NA07045 esv2625273 16 79404905 79405981 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338713 S 1 1 0 "" NA18507 esv271352 16 79405529 79405885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576041,essv2571672,essv2521290,essv2542520,essv2556476,essv2523088,essv2548423,essv2521765,essv2576544,essv2525423,essv2554328,essv2547412,essv2540136,essv2532272,essv2562730,essv2569614,essv2578603,essv2536998,essv2561430,essv2544987,essv2540343,essv2519741,essv2560095,essv2567511,essv2563789,essv2566997,essv2541939,essv2568891,essv2527977,essv2562284,essv2534113,essv2578345,essv2567254,essv2527433,essv2522611,essv2575436,essv2575211,essv2560772,essv2574794,essv2572883,essv2568457,essv2560364,essv2548056,essv2549603,essv2546077,essv2574203,essv2551531,essv2536225,essv2548915 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11830,NA11840,NA11894,NA11919,NA11994,NA12004,NA12045,NA12144,NA12154,NA12156,NA12287,NA12717,NA18489,NA18505,NA18507,NA18508,NA18510,NA18517,NA18523,NA18526,NA18552,NA18566,NA18570,NA18582,NA18603,NA18853,NA18856,NA18861,NA18907,NA18909,NA18916,NA18940,NA18947,NA18952,NA18960,NA19099,NA19102,NA19116,NA19138,NA19143,NA19147,NA19190,NA19210,NA19225,NA19239,NA19240,NA19257 esv274440 16 79405530 79405859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578994 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv442405 16 79460358 79471170 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421876 16 79460360 79471170 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027519,essv5120655,essv5035722,essv5068854,essv5044617,essv5069146,essv5006024,essv5114133,essv5069083,essv5108351,essv5023213,essv5116684,essv5037851,essv5010581,essv5124529,essv5082216 M 1184 0 16 "" NA18909,NA18911,NA19131,NA19159,NA19184,NA19197,NA19199,NA19203,NA19247,NA19469,NA19470,NA19474,NA19703,NA19705,NA21454,NA21455 esv29152 16 79461162 79471134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19058 S 451 0 1 "" NA18909 nsv516964 16 79461910 79471170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675931,nssv686104,nssv685840,nssv660537,nssv664028,nssv653051,nssv653519,nssv654037,nssv690938 M 2026 0 9 "" nsv514819 16 79466080 79471104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628272 S 1414 0 1 "" nsv523962 16 79471447 79472730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699812 S 2026 0 1 "" nsv907003 16 79477169 79508646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521191 S 6533 0 1 "" SP52271 esv275564 16 79493892 79497191 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585503 S 1250 0 1 "" dgv355n27 16 79512894 79547360 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457561,nsv457562 M 1557 0 2 "" HGDP00994,HGDP01408 nsv471101 16 79512894 79547361 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545344,nssv545340,nssv545341,nssv545343 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00455,HGDP00994,HGDP01408,HGDP01415 nsv520122 16 79512894 79559416 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682802,nssv660974,nssv676419,nssv672073,nssv683209,nssv682675 M 2026 0 6 "" nsv907004 16 79515943 79559416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516196 S 6533 1 0 "" SP56518 dgv910e1 16 79529780 79539177 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23718,essv7480 M 271 0 0 "" NA12813,NA18561 dgv911e1 16 79529780 79544102 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv187,essv18868,essv21483 M 271 0 0 "" NA07029,NA10830,NA18994 dgv912e1 16 79529780 79564259 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19723,essv14656,essv7673,essv5004,essv10187 M 271 0 0 "" NA12236,NA18516,NA18571,NA18620,NA19145 dgv913e1 16 79529780 79584643 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19344,esv914 M 271 0 0 C16orf61 NA06985 nsv510425 16 79532198 79538198 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622265 S 4 0 1 "" NA10860 nsv9464 16 79532411 79540970 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23935,nssv27083,nssv22622 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA18537,NA18860 dgv49n17 16 79533041 79541968 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437809,nsv437810 M 60 0 2 "" NA18857,NA19094 esv24316 16 79534303 79540933 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11384 S 451 0 3 "" NA07045,NA11931,NA18858 nsv827773 16 79536215 79540735 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426182,nssv1430198,nssv1440005 M 31 0 3 "" AK14,AK4,NA18537 dgv914e1 16 79536934 79539177 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2146,essv957,essv22610,essv18805,essv6060,essv7241,essv25041,essv1073,essv21952,essv5688,essv6542 M 271 0 0 "" NA07000,NA12154,NA12248,NA12801,NA18603,NA18605,NA18624,NA18635,NA18978,NA18981,NA18990 dgv915e1 16 79536934 79544102 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2557,essv20517,essv4929,essv8404,essv17401,essv3917,essv15938,essv17687,essv22006,essv1004 M 271 0 0 "" NA10835,NA12716,NA12815,NA18515,NA18537,NA18855,NA18960,NA18964,NA18974,NA19093 essv3264 16 79537741 79539177 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18967 nsv510426 16 79544694 79550694 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622266 S 4 0 1 "" NA10860 nsv817744 16 79547360 79585186 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418181 S 112 0 1 C16orf61 NA06985 esv28134 16 79554746 79586313 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11135 S 451 0 1 C16orf61 NA06985 nsv522168 16 79611798 79619328 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694941 S 2026 1 0 CENPN nsv1897 16 79618067 79662761 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7282 S 9 0 1 ATMIN,C16orf46,CENPN NA12156 esv2422360 16 79623534 79738228 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161256 S 181 1 0 ATMIN,C16orf46,CENPN,GCSH,PKD1L2 ND03628 esv25835 16 79626672 79627645 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13684 S 451 0 1 ATMIN NA07045 dgv356n27 16 79637867 79652592 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457564,nsv457565,nsv457569,nsv457568,nsv457566,nsv457567 M 1557 0 6 ATMIN,C16orf46 HGDP00543,HGDP00790,HGDP00820,HGDP01232,HGDP01317,HGDP01386 esv2751615 16 79650600 79865100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987561,essv6987562,essv6984333,essv6984334 M 771 1 0 BCMO1,C16orf46,GCSH,PKD1L2 BEC_691 esv1003113 16 79676139 79677402 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565659 S 3 0 1 GCSH HuRef esv2490578 16 79676507 79677953 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287636 S 1 0 1 GCSH NA18507 esv2127465 16 79676786 79677495 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842182 S 1 0 1 GCSH NA18507 esv6143 16 79676975 79677313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28584 S 1 0 1 GCSH SJK esv1126856 16 79676980 79677333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061192 S 2 0 1 GCSH HuRef nsv907005 16 79678854 79752413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556898 S 6533 0 1 GCSH,PKD1L2 MS22262 esv1203723 16 79697706 79697706 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043576 S 2 1 0 PKD1L2 HuRef nsv520035 16 79703176 79715022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660178,nssv692424 M 2026 0 2 PKD1L2 nsv907006 16 79711949 79724815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516520 S 6533 0 1 PKD1L2 SP56849 nsv907007 16 79715022 79738924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568006,nssv1563688 M 6533 0 2 PKD1L2 IS30039,IS31183 nsv827774 16 79728389 79735289 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424598 S 31 0 1 PKD1L2 NA18582 esv1317764 16 79731342 79731850 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304106 S 2 0 1 PKD1L2 HuRef nsv521055 16 79738924 79822098 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705384,nssv699815,nssv680882,nssv689308 M 2026 0 4 PKD1L2 nsv907008 16 79745353 79765676 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515321 S 6533 1 0 PKD1L2 SP56154 nsv457571 16 79747011 79791115 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534732 S 1557 1 0 PKD1L2 NINDS_13 nsv907009 16 79748291 79820017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515685 S 6533 0 1 PKD1L2 SP56246 esv999287 16 79754990 79755755 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587208 S 3 1 0 PKD1L2 HuRef nsv827776 16 79755186 79755702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437077 S 31 0 1 PKD1L2 NA18542 nsv457573 16 79761582 79852394 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534733 S 1557 1 0 BCMO1,PKD1L2 NINDS_180 nsv527288 16 79761689 79868448 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703702 S 2026 1 0 BCMO1,PKD1L2 nsv457575 16 79787842 79802003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534734 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PKD1L2 HGDP00837 esv21660 16 79796176 79798349 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15766 S 451 7 0 PKD1L2 NA18508,NA18511,NA18523,NA18916,NA19225,NA19240,NA19257 esv24979 16 79802094 79810341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18761,esv16148 M 451 0 2 PKD1L2 NA19108,NA19114 esv270116 16 79802516 79802614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496874,essv2511894,essv2493231,essv2493696,essv2498606,essv2509274,essv2504717 M 157 7 0 Samples from several populations that are part of the HapMap project. PKD1L2 NA18498,NA18499,NA18504,NA18517,NA18858,NA18909,NA19099 esv274566 16 79835485 79835570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581330 S 7 1 0 Samples from several populations that are part of the HapMap project. BCMO1 NA12878 nsv103709 16 79841705 79845417 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122287 M 24 BCMO1 esv9222 16 79842584 79843329 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31663 S 1 0 0 BCMO1 SJK nsv522890 16 79898864 79905897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698548 S 2026 0 1 "" nsv524477 16 79916968 79919635 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700415 S 2026 1 0 GAN nsv524464 16 79916968 79923475 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700398 S 2026 1 0 GAN esv7157 16 79982054 79982141 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29598 S 1 1 0 "" SJK nsv524244 16 79983247 79983359 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700136 S 2026 0 1 "" esv34108 16 80026591 80067972 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CMIP esv23710 16 80035585 80037111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14652 S 451 0 1 CMIP NA18511 nsv907010 16 80046394 80092291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546899 S 6533 0 1 CMIP MS17208 nsv518910 16 80066794 80068243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694049 S 2026 0 1 CMIP nsv522140 16 80066794 80068243 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694135 S 2026 1 0 CMIP nsv521875 16 80068243 80072251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694646 S 2026 0 1 CMIP nsv457576 16 80083138 80136934 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534735 S 1557 0 1 CMIP 1780862304_A nsv526331 16 80125055 80125193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702621 S 2026 0 1 CMIP nsv520382 16 80125055 80129226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697383 S 2026 0 1 CMIP nsv1898 16 80139138 80184006 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7283 S 9 0 1 CMIP NA12156 nsv524589 16 80150435 80166799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700548 S 2026 0 1 CMIP esv2325065 16 80167912 80168264 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958472 S 1 0 1 CMIP NA18507 nsv510427 16 80171172 80177172 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622267 S 4 0 1 CMIP NA10860 esv3256 16 80176600 80176959 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25697 S 1 0 1 Single Asian sample YH CMIP YH nsv907011 16 80196691 80314753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546900,nssv1530848 M 6533 0 2 CMIP,LOC100129617 MS10311,MS17208 esv1774977 16 80260478 80260570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688792 S 2 0 1 CMIP HuRef nsv513456 16 80295090 80295378 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625859 S 1 1 0 CMIP 1 nsv523172 16 80315964 80335992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698884 S 2026 0 1 "" nsv457577 16 80330710 80365734 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534736 S 1557 0 1 "" NINDS_74 nsv1900 16 80343141 80374805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6687 S 9 1 0 PLCG2 NA12156 esv259792 16 80356086 80356852 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398626,essv2400047,essv2398787,essv2400264,essv2395292,essv2399119,essv2398918,essv2396022,essv2397568,essv2394458,essv2396810,essv2396277,essv2400752,essv2395421,essv2396683,essv2397969,essv2399744,essv2401072,essv2396941,essv2397823,essv2400638,essv2396634,essv2400704,essv2400359,essv2396312,essv2399893,essv2397419,essv2397185,essv2400612,essv2397867,essv2396894,essv2395557,essv2398430,essv2399998,essv2394896,essv2394452,essv2395456,essv2394536,essv2400385,essv2395810,essv2394583,essv2398329,essv2395680,essv2396428 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA11829,NA11918,NA11920,NA11995,NA12003,NA12044,NA12045,NA12155,NA12716,NA12717,NA12749,NA12750,NA12751,NA12828,NA12891,NA12892,NA18505,NA18510,NA18526,NA18542,NA18555,NA18558,NA18561,NA18566,NA18572,NA18576,NA18577,NA18579,NA18593,NA18871,NA18940,NA18942,NA18943,NA18948,NA18959,NA18960,NA18961,NA18965,NA19093,NA19116,NA19138 esv259583 16 80356106 80356812 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393904,essv2393808 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv4107 16 80356258 80356661 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26548 S 1 0 0 Single Asian sample YH "" YH esv1387198 16 80367205 80367205 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145330 S 2 1 0 "" HuRef esv26776 16 80395173 80399306 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10620 S 451 1 0 PLCG2 NA19225 nsv442406 16 80395345 80398185 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PLCG2 nsv523908 16 80397623 80402192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699751 S 2026 0 1 PLCG2 esv1122914 16 80457238 80457524 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664902 S 2 0 1 PLCG2 HuRef esv989873 16 80457497 80457780 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574765 S 3 0 1 PLCG2 HuRef esv23360 16 80462268 80466908 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14137 S 451 1 0 PLCG2 NA19099 esv273451 16 80501620 80504085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581403 S 7 1 0 Samples from several populations that are part of the HapMap project. PLCG2 NA12878 esv1008749 16 80539313 80539313 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579863 S 3 1 0 PLCG2 HuRef nsv907012 16 80544397 80672649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577487 S 6533 1 0 HSD17B2,PLCG2,SDR42E1 IS34472 nsv519465 16 80556907 80559605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656280,nssv672507,nssv658819 M 2026 0 3 "" esv2029415 16 80634325 80635010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797639 S 1 0 1 HSD17B2 NA18507 nsv907013 16 80712120 80754309 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577488 S 6533 1 0 MPHOSPH6 IS34472 nsv525467 16 80712120 80780986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701595 S 2026 0 1 MPHOSPH6 esv1410101 16 80721692 80721762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026312 S 2 0 1 "" HuRef esv1277696 16 80721778 80721944 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146014 S 2 0 1 "" HuRef esv268087 16 80722154 80722476 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517490,essv2514031,essv2515385,essv2518572,essv2514992,essv2516060,essv2514236,essv2517683,essv2516287,essv2516858,essv2517200,essv2515188,essv2518941,essv2518298,essv2519436 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11918,NA12043,NA12249,NA12287,NA12812,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19238,NA19239,NA19240 esv272964 16 80722165 80722477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582014,essv2582368,essv2582799,essv2584010,essv2584580,essv2583384 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv26713 16 80722834 80723308 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20883 S 451 1 0 "" NA12004 nsv907014 16 80728018 82221802 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566718 S 6533 1 0 CDH13,MIR3182,MPHOSPH6 IS30883 nsv518129 16 80745674 80785577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695547 S 2026 0 1 MPHOSPH6 nsv833302 16 80745852 80921364 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452892 S 95 0 1 MPHOSPH6 esv7218 16 80754394 80754462 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29659 S 1 1 0 MPHOSPH6 SJK nsv907015 16 80761259 80841557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597187 S 6533 0 1 MPHOSPH6 IS40759 nsv817745 16 80770740 80774123 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416183 S 112 1 0 "" NA19141 nsv907016 16 80792804 80838049 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577489 S 6533 1 0 "" IS34472 nsv522270 16 80809504 80883031 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695050 S 2026 0 1 "" esv25388 16 80832734 80833375 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14284 S 451 2 0 "" NA12004,NA19099 nsv907017 16 80853513 80877154 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577490 S 6533 1 0 "" IS34472 nsv907018 16 80864052 80903084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597188 S 6533 0 1 "" IS40759 nsv833304 16 80864376 80986522 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452893 S 95 0 1 "" nsv820951 16 80866635 80867785 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419894 S 1 0 1 "" NA10851 esv4154 16 80866662 80867796 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26595 S 1 0 1 Single Asian sample YH "" YH esv1727878 16 80866729 80867443 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932529 S 2 0 1 "" HuRef esv27379 16 80866730 80867785 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16833 S 451 0 15 "" NA07037,NA11894,NA11931,NA12156,NA12776,NA18502,NA18517,NA18523,NA18858,NA18907,NA19099,NA19129,NA19190,NA19240,NA19257 dgv62e180 16 80866905 80867867 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993536,esv993357 M 3 0 1 "" HuRef esv24208 16 80890228 80891694 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12806 S 451 4 0 "" NA07045,NA18511,NA19099,NA19129 nsv525789 16 80906745 80960304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701969 S 2026 0 1 "" nsv522194 16 80956298 80957259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694969 S 2026 0 1 "" nsv523980 16 80956298 80958556 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699835 S 2026 1 0 "" nsv521799 16 80957259 80958556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694569 S 2026 0 1 "" nsv527041 16 80958556 80960283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703417 S 2026 0 1 "" nsv519233 16 80973842 80978516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694318 S 2026 0 1 "" nsv1901 16 80974017 81018675 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2153 S 9 0 1 "" NA18555 nsv1902 16 81006303 81049425 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7284,nssv2956 M 9 2 0 "" NA12156,NA18555 esv26582 16 81023895 81024487 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20462 S 451 0 1 "" NA18511 nsv526358 16 81027428 81028777 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702651 S 2026 1 0 "" esv8589 16 81040033 81040350 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31030 S 1 0 1 "" SJK nsv907019 16 81065551 81131595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577491 S 6533 1 0 "" IS34472 nsv833305 16 81121389 81279585 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452894 S 95 1 0 CDH13 nsv907020 16 81141220 81196061 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577492 S 6533 1 0 "" IS34472 nsv528194 16 81173242 81184235 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704751 S 2026 1 0 "" nsv907021 16 81173805 81185684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535039 S 6533 0 1 "" MS11980 esv275004 16 81237033 81239988 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585426 S 1250 0 1 CDH13 nsv907022 16 81237892 81275531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597480 S 6533 0 1 CDH13 IS41305 nsv907023 16 81237892 81309433 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577493 S 6533 1 0 CDH13 IS34472 nsv517665 16 81261056 81261192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677237,nssv666049,nssv667747,nssv676177,nssv663395,nssv671933,nssv686180,nssv675668,nssv664979,nssv681160,nssv688046,nssv688765,nssv690445,nssv663240,nssv688881,nssv652766,nssv666076,nssv660381 M 2026 0 18 CDH13 esv1001951 16 81263608 81264430 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587233 S 3 0 1 CDH13 HuRef esv275089 16 81269816 81271535 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585158 S 1250 0 1 CDH13 dgv2926n71 16 81271375 81326069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907025,nsv907024 M 6533 0 2 CDH13 SP56013,SP81408 esv2751616 16 81272197 81409797 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981239,essv6981237,essv6981238 M 771 1 0 CDH13 BEC_371 nsv527828 16 81278925 81281593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704324 S 2026 0 1 CDH13 nsv526366 16 81278925 81283985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702660 S 2026 0 1 CDH13 nsv907026 16 81323108 81370354 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577494 S 6533 1 0 CDH13 IS34472 nsv521310 16 81330369 81333890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697917 S 2026 0 1 CDH13 esv260026 16 81348488 81348828 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394758,essv2398574,essv2395760,essv2400567,essv2397585,essv2398081,essv2399952,essv2396705,essv2399172,essv2399727,essv2398563,essv2399579,essv2397192,essv2399862,essv2400419,essv2395906,essv2396993 M 144 0 0 Samples from several populations that are part of the HapMap project. CDH13 NA07357,NA10847,NA12004,NA12043,NA12044,NA12144,NA12156,NA12750,NA12776,NA12828,NA18516,NA18570,NA18572,NA18573,NA18592,NA18945,NA18973 esv270453 16 81385436 81385740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576030,essv2540772,essv2521249,essv2526036,essv2542323,essv2543998,essv2556570,essv2577503,essv2521839,essv2525366,essv2535388,essv2553936,essv2520524,essv2558611,essv2553733,essv2559481,essv2564049,essv2563022,essv2560985,essv2541506,essv2570255,essv2566663,essv2534190,essv2522358,essv2531568,essv2573663,essv2525735,essv2533028,essv2547886,essv2524776,essv2563174 M 157 31 0 Samples from several populations that are part of the HapMap project. CDH13 NA07051,NA07347,NA07357,NA10847,NA11830,NA11831,NA11894,NA11918,NA11919,NA11992,NA11994,NA12043,NA12144,NA12156,NA12249,NA12287,NA12716,NA12750,NA12763,NA12776,NA12828,NA18532,NA18562,NA18592,NA18593,NA18948,NA18959,NA18960,NA18961,NA18964,NA18980 nsv907027 16 81387622 81428851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577495 S 6533 1 0 CDH13 IS34472 nsv827777 16 81429728 81430445 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423810,nssv1440006,nssv1428695 M 31 0 3 CDH13 AK10,NA18537,NA18999 esv275275 16 81442719 81444380 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586034,essv2586107 M 1250 1 1 CDH13 esv271521 16 81469585 81469716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552223,essv2520708,essv2578090,essv2553656,essv2576280,essv2537686,essv2547120,essv2557403,essv2556952,essv2532166,essv2569541,essv2558708,essv2537163,essv2569656,essv2527357,essv2561683,essv2544824,essv2523691,essv2553022,essv2542665,essv2524697,essv2564944,essv2534905,essv2561105,essv2539523,essv2549570,essv2519621,essv2559812,essv2522258,essv2565981,essv2531104,essv2532904,essv2567914,essv2528653,essv2567549,essv2541595,essv2570164,essv2563699,essv2535584,essv2572391,essv2558993,essv2566933,essv2551011,essv2569143,essv2543655,essv2556438,essv2578464,essv2573007,essv2555197,essv2555539,essv2566613,essv2573852,essv2527645,essv2555812,essv2531482,essv2573377,essv2543319,essv2576947,essv2571913,essv2529730,essv2574751,essv2545033,essv2560289,essv2571136,essv2545999,essv2574499,essv2551578,essv2536005,essv2537871,essv2563469 M 157 70 0 Samples from several populations that are part of the HapMap project. CDH13 NA06986,NA07000,NA10847,NA12489,NA12716,NA12761,NA12763,NA12814,NA12878,NA12892,NA18499,NA18501,NA18505,NA18508,NA18516,NA18517,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18940,NA18942,NA18943,NA18945,NA18948,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA18970,NA18973,NA19093,NA19138,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv272584 16 81469589 81469809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582223,essv2582794,essv2584263,essv2584865,essv2583497 M 7 5 0 Samples from several populations that are part of the HapMap project. CDH13 NA12878,NA12892,NA19238,NA19239,NA19240 nsv907028 16 81498112 81532129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560723,nssv1545577 M 6533 0 2 CDH13 MS16837,MS24672 esv267660 16 81500551 81500913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495260,essv2508505,essv2507713,essv2507936 M 157 4 0 Samples from several populations that are part of the HapMap project. CDH13 NA11992,NA12717,NA12751,NA18564 dgv2927n71 16 81508680 81602166 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907029,nsv907030 M 6533 0 2 CDH13 SP54393,SP80975 nsv522570 16 81546478 81602166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705954 S 2026 0 1 CDH13 esv22422 16 81562225 81563000 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14658 S 451 0 1 CDH13 NA12006 nsv1903 16 81592953 81637815 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7285 S 9 0 1 CDH13 NA12156 esv275233 16 81611130 81614830 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585364,essv2585362 M 1250 1 1 CDH13 nsv1904 16 81630362 81647884 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4233 S 9 1 0 CDH13 NA12878 nsv907031 16 81654021 81670497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514761 S 6533 0 1 CDH13 SP56064 nsv833306 16 81671400 81856276 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452895 S 95 0 1 CDH13 nsv527342 16 81674862 81692190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703768 S 2026 0 1 CDH13 esv993231 16 81678257 81678869 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587203 S 3 0 1 CDH13 HuRef nsv907032 16 81687761 81709649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553377 S 6533 1 0 CDH13 MS20008 nsv907033 16 81687761 81720179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534800 S 6533 1 0 CDH13 MS11726 nsv457583 16 81691958 81713224 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534737 S 1557 0 1 CDH13 1780854198_A nsv518143 16 81694840 81696825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694205 S 2026 0 1 CDH13 nsv522936 16 81697744 81698178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698599 S 2026 0 1 CDH13 esv29576 16 81706812 81707630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12165 S 451 0 2 CDH13 NA19147,NA19225 nsv907034 16 81750763 81881218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573222 S 6533 0 1 CDH13 IS33248 nsv515825 16 81753265 81759394 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689454,nssv680615,nssv674120,nssv682019,nssv684616,nssv683319,nssv672862,nssv671890,nssv688293,nssv665331,nssv665647,nssv663421,nssv664894,nssv685639 M 2026 0 14 CDH13 esv2286188 16 81845863 81846310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697157 S 1 0 1 CDH13 NA18507 nsv833307 16 81889263 81952169 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452916,nssv1452910,nssv1452908,nssv1452917,nssv1452911,nssv1452915,nssv1452912,nssv1452896,nssv1452909,nssv1452902,nssv1452900,nssv1452907,nssv1452918,nssv1452906,nssv1452898,nssv1452897,nssv1452899,nssv1452913,nssv1452901,nssv1452905,nssv1452903,nssv1452904,nssv1452914 M 95 2 21 CDH13 nsv1905 16 81926795 81960024 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7286 S 9 1 0 CDH13 NA12156 nsv510428 16 81951443 81957443 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624180 S 4 0 1 CDH13 NA18994 esv269371 16 81965786 81966082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516813 S 157 1 0 Samples from several populations that are part of the HapMap project. CDH13 NA11881 esv1010099 16 82035946 82035946 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574202 S 3 1 0 CDH13 HuRef esv1557614 16 82035947 82035947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865191 S 2 1 0 CDH13 HuRef esv2430420 16 82091399 82091480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392200 S 1 0 1 CDH13 NA18507 nsv518084 16 82116303 82122361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695498 S 2026 0 1 CDH13 nsv907035 16 82181179 82219784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539248 S 6533 0 1 CDH13 MS14268 dgv168n21 16 82196700 82201291 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521708,nsv521265 M 2026 0 2 CDH13 nsv524580 16 82199007 82199077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700536 S 2026 0 1 CDH13 esv275268 16 82201491 82210403 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585759,essv2586149 M 1250 1 1 CDH13 nsv523157 16 82209186 82213765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698866 S 2026 0 1 CDH13 nsv515680 16 82213765 82218967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687428,nssv685979,nssv684502,nssv664366,nssv675669,nssv683378 M 2026 0 6 CDH13 esv33495 16 82214966 82248859 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93815 S 51 0 1 CDH13 21634 nsv457586 16 82216511 82222143 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534739 S 1557 0 1 CDH13 NINDS_166 nsv1906 16 82221595 82253574 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9964,nssv1329 M 9 0 2 CDH13 NA18507,NA19240 esv271748 16 82223837 82223922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519288,essv2516936,essv2514019,essv2515463,essv2516412,essv2515682,essv2517951,essv2515868,essv2517314,essv2519150,essv2513689 M 157 11 0 Samples from several populations that are part of the HapMap project. CDH13 NA07347,NA11894,NA11931,NA12043,NA12249,NA12814,NA12815,NA12872,NA12873,NA18970,NA19141 esv1369956 16 82223875 82223875 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235686 S 2 1 0 CDH13 HuRef esv2523201 16 82227665 82234894 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290910 S 1 0 1 CDH13 NA18507 esv2112702 16 82228167 82234623 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555606 S 1 0 1 CDH13 NA18507 esv3135 16 82228321 82234560 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25576 S 1 0 1 Single Asian sample YH CDH13 YH esv9464 16 82228355 82234431 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31905 S 1 0 1 CDH13 SJK esv28755 16 82247466 82250602 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16091 S 451 0 2 CDH13 NA18502,NA18517 esv1768316 16 82249502 82250084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844800 S 2 0 1 CDH13 HuRef esv32756 16 82295946 82296179 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98151,essv97392 M 51 0 2 CDH13 21772,21879 nsv833308 16 82333307 82488856 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452919 S 95 0 1 CDH13,HSBP1 dgv916e1 16 82340616 82351735 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv901,essv19881 M 271 0 0 CDH13 NA11881 esv1003403 16 82355735 82355804 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577092 S 3 0 1 CDH13 HuRef esv1572586 16 82355852 82355922 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359843 S 2 0 1 CDH13 HuRef nsv103273 16 82355853 82355922 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121851 M 24 CDH13 dgv495n67 16 82365985 82366557 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827779,nsv827778 M 31 0 5 CDH13 AK18,NA18552,NA18942,NA18951,NA18972 nsv471102 16 82374996 82398662 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545345 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH13 HGDP00866 nsv1907 16 82391898 82426612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2957 S 9 1 0 HSBP1 NA18555 nsv907036 16 82398662 82434492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521157 S 6533 0 1 HSBP1 SP52253 nsv527290 16 82406324 82408574 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703705 S 2026 0 1 "" nsv457587 16 82408574 82499322 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534740 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MLYCD HGDP00748 nsv471103 16 82418284 82441489 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545346 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00866 nsv522135 16 82423409 82430365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694909 S 2026 0 1 "" nsv524223 16 82434492 82449797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700111 S 2026 0 1 "" nsv529009 16 82434492 82453254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705719 S 2026 1 0 "" nsv525250 16 82441489 82453254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701345 S 2026 1 0 "" nsv528477 16 82445197 82450014 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705080 S 2026 1 0 "" nsv521714 16 82445197 82453254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698341 S 2026 0 1 "" nsv522122 16 82445197 82484740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694895 S 2026 0 1 "" nsv442407 16 82447180 82449266 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421724 16 82447180 82449270 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5039831,essv5067400,essv5132757,essv5140358,essv5086799,essv5087415,essv5025219,essv5074692,essv5005716,essv5125164,essv5013377,essv5127775,essv5063275,essv5040143,essv5091758,essv5060264,essv5028899,essv5046638,essv5122926,essv5030804,essv5081006,essv5056934,essv5153697,essv5026471,essv5039044,essv5109135,essv5132148,essv5153790,essv5076789,essv5057950,essv5029673,essv5060685,essv5044941,essv5050994,essv5104392,essv5086820,essv5102248,essv5132485,essv5053496,essv5147079,essv5045983,essv5080949,essv5023030,essv5066304,essv5005715,essv5093813,essv5112598,essv5104680,essv5028968,essv5084037,essv5106192,essv5116399,essv5021765,essv5060488,essv5063310,essv5134644,essv5105556,essv5079679,essv5020141,essv5035092,essv5007848,essv5025693,essv5095641,essv5088006,essv5093417,essv5114971,essv5112965,essv5057391,essv5034663,essv5072086,essv5116277,essv5024112,essv5051353,essv5100150,essv5035289,essv5004768,essv5034674,essv5042956,essv5035495,essv5159586,essv5057133,essv5061668,essv5014077,essv5085134,essv5145286,essv5113670,essv5122056,essv5056922,essv5081273,essv5105379,essv5127554,essv5016173,essv5055679,essv5071381,essv5144368,essv5134416,essv5045268,essv5066639,essv5072024,essv5133747,essv5101533,essv5051189,essv5055492,essv5135740,essv5145773,essv5146086,essv5025310,essv5024442,essv5052408,essv5121667,essv5152102,essv5039827,essv5015484,essv5078582,essv5129621,essv5045567,essv5016514,essv5118342,essv5033974,essv5056000,essv5034042,essv5012685,essv5040525,essv5152255,essv5010253,essv5033829,essv5021292,essv5022777,essv5097082,essv5104250,essv5045178,essv5152276,essv5068707,essv5037319,essv5061595,essv5047491,essv5112040,essv5095295,essv5044858,essv5090197,essv5146369,essv5078215,essv5110630,essv5050432,essv5083385,essv5159569,essv5018854,essv5105239,essv5074619,essv5096989,essv5149092,essv5117746,essv5124084,essv5153934,essv5032247,essv5155253,essv5057333,essv5037337,essv5074611,essv5054292,essv5089942,essv5012265,essv5011722,essv5072192,essv5006548,essv5093876,essv5086004,essv5089856,essv5083998,essv5100420,essv5029198,essv5016643,essv5080932,essv5078157,essv5030418,essv5105782,essv5123995,essv5069914,essv5094186,essv5017271,essv5085903,essv5133089,essv5142830,essv5015462,essv5022177,essv5028985,essv5131460,essv5052670,essv5098778,essv5113171,essv5143677,essv5142728,essv5121997,essv5142004,essv5071334,essv5021185,essv5104884,essv5040294,essv5110226,essv5007120,essv5098303,essv5026374 M 1184 0 202 "" NA06994,NA10863,NA12234,NA12399,NA12739,NA12748,NA12775,NA17962,NA17966,NA17970,NA17974,NA17976,NA17977,NA17986,NA17987,NA17988,NA17993,NA17996,NA17998,NA18106,NA18120,NA18132,NA18138,NA18147,NA18154,NA18156,NA18158,NA18161,NA18166,NA18487,NA18526,NA18529,NA18544,NA18546,NA18550,NA18557,NA18559,NA18564,NA18566,NA18570,NA18573,NA18596,NA18608,NA18612,NA18613,NA18617,NA18618,NA18619,NA18621,NA18627,NA18630,NA18631,NA18635,NA18636,NA18642,NA18643,NA18670,NA18674,NA18685,NA18689,NA18757,NA18867,NA18869,NA18874,NA18875,NA18934,NA18935,NA18947,NA18949,NA18954,NA18963,NA18970,NA18973,NA18976,NA18978,NA18980,NA18987,NA18991,NA19009,NA19010,NA19031,NA19035,NA19038,NA19041,NA19046,NA19058,NA19074,NA19075,NA19077,NA19084,NA19086,NA19151,NA19182,NA19190,NA19327,NA19346,NA19350,NA19359,NA19360,NA19373,NA19374,NA19376,NA19377,NA19383,NA19385,NA19393,NA19396,NA19398,NA19399,NA19403,NA19430,NA19434,NA19436,NA19443,NA19445,NA19451,NA19456,NA19457,NA19470,NA19711,NA19719,NA19723,NA19835,NA19901,NA19904,NA20127,NA20288,NA20291,NA20340,NA20344,NA20345,NA20349,NA20502,NA20505,NA20521,NA20529,NA20538,NA20768,NA20804,NA20808,NA20809,NA20812,NA20819,NA20845,NA20849,NA20852,NA20853,NA20856,NA20866,NA20869,NA20871,NA20873,NA20877,NA20885,NA20887,NA20892,NA20896,NA20898,NA20901,NA20909,NA21089,NA21100,NA21101,NA21112,NA21125,NA21143,NA21308,NA21336,NA21365,NA21366,NA21367,NA21370,NA21388,NA21420,NA21436,NA21439,NA21441,NA21442,NA21447,NA21475,NA21476,NA21477,NA21479,NA21480,NA21489,NA21494,NA21513,NA21514,NA21520,NA21580,NA21582,NA21597,NA21614,NA21619,NA21631,NA21650,NA21686,NA21689,NA21723,NA21733,NA21740,NA21784 esv24309 16 82448085 82452508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16774 S 451 0 1 "" NA19190 nsv520396 16 82448386 82453254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672920,nssv673202,nssv683779,nssv663671 M 2026 0 4 "" nsv1908 16 82467827 82500439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4234 S 9 1 0 MLYCD NA12878 nsv520970 16 82468007 82484740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697714 S 2026 0 1 "" esv1097636 16 82474754 82474754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954852 S 2 1 0 "" HuRef esv26248 16 82493033 82494041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20626 S 451 0 1 MLYCD NA12489 nsv517566 16 82512886 82604216 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652382,nssv701561,nssv702543,nssv700267,nssv668726,nssv697590 M 2026 1 5 NECAB2,OSGIN1,SLC38A8 nsv471106 16 82512886 82605899 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545348,nssv545347 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NECAB2,OSGIN1,SLC38A8 HGDP00566,HGDP00599 dgv2928n71 16 82518498 82613399 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907039,nsv907037 M 6533 0 2 NECAB2,OSGIN1,SLC38A8 MS17208,MS24285 nsv528396 16 82528743 82641628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704986 S 2026 0 1 NECAB2,OSGIN1,SLC38A8 nsv907038 16 82540572 82594182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524427 S 6533 1 0 NECAB2,OSGIN1 SP55022 esv2193076 16 82541892 82542234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852117 S 1 0 1 "" NA18507 nsv907040 16 82542626 82678157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520923 S 6533 0 1 MBTPS1,NECAB2,OSGIN1,SLC38A8 SP51311 nsv457591 16 82581425 82593420 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534741 S 1557 0 1 NECAB2 1798860361_A dgv357n27 16 82585624 82596250 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457592,nsv457593 M 1557 0 2 NECAB2 1780854206_A,HGDP00784 nsv457594 16 82588936 82599159 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534744 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NECAB2 HGDP01009 esv28321 16 82589884 82592962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9866,esv17645 M 451 0 15 NECAB2 NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18907,NA18909,NA18916,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 nsv827780 16 82591891 82592557 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434742 S 31 0 1 NECAB2 NA18570 dgv2929n71 16 82596250 82672780 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907055,nsv907050,nsv907046,nsv907041,nsv907052,nsv907043 M 6533 6 0 MBTPS1,SLC38A8 IS34346,IS34908,IS36657,IS38274,IS38399,MS11312 dgv2930n71 16 82596250 82689206 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907045,nsv907044,nsv907042,nsv907048,nsv907047,nsv907051,nsv907056 M 6533 16 0 MBTPS1,SLC38A8 IS30645,IS31651,IS32289,IS32365,IS32523,IS32664,IS35263,IS36570,IS38280,IS38491,IS40646,IS40660,IS40925,IS41948,IS41992,MS14837 nsv457595 16 82604216 82682771 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534745 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MBTPS1,SLC38A8 HGDP00445 nsv907049 16 82605899 82641628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524428,nssv1596222 M 6533 2 0 SLC38A8 IS40446,SP55022 dgv2931n71 16 82615072 82649967 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907054,nsv907053 M 6533 0 2 MBTPS1,SLC38A8 MS10311,MS18276 nsv527489 16 82621883 82641628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703937 S 2026 0 1 SLC38A8 nsv1909 16 82622574 82667809 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7287 S 9 0 1 MBTPS1,SLC38A8 NA12156 esv27048 16 82626922 82628012 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21371,esv14895 M 451 0 3 SLC38A8 NA18505,NA18916,NA19099 dgv2932n71 16 82628326 82689206 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907058,nsv907057 M 6533 2 0 MBTPS1,SLC38A8 IS37573,IS40429 esv2505854 16 82641504 82643873 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291318 S 1 0 1 "" NA18507 esv24644 16 82641637 82643502 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12034 S 451 1 6 "" NA18502,NA18508,NA18517,NA18523,NA18861,NA19099,NA19240 esv1527136 16 82642014 82642014 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106897 S 2 1 0 "" HuRef esv1008786 16 82642587 82642643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572565 S 3 0 1 "" HuRef esv1282146 16 82642618 82642675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352972 S 2 0 1 "" HuRef nsv907059 16 82642794 82806258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524429 S 6533 1 0 ADAD2,DNAAF1,HSDL1,MBTPS1,TAF1C SP55022 esv1659142 16 82642844 82642929 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696508 S 2 0 1 "" HuRef nsv907060 16 82649967 82683859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596223 S 6533 1 0 MBTPS1 IS40446 nsv833309 16 82667973 82839698 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452920 S 95 0 1 ADAD2,DNAAF1,HSDL1,KCNG4,MBTPS1,TAF1C nsv907061 16 82760123 82796939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575151 S 6533 0 1 ADAD2,DNAAF1,TAF1C IS33684 nsv518331 16 82767239 82770211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694226 S 2026 0 1 DNAAF1,TAF1C nsv523437 16 82767239 82787877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699193 S 2026 0 1 ADAD2,DNAAF1,TAF1C nsv907062 16 82767239 82790849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549898,nssv1543693,nssv1546902,nssv1592341 M 6533 0 4 ADAD2,DNAAF1,TAF1C IS39233,MS16153,MS17208,MS18276 nsv907063 16 82767239 82819610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530850 S 6533 0 1 ADAD2,DNAAF1,KCNG4,TAF1C MS10311 nsv457597 16 82773193 82806258 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534747 S 1557 0 1 ADAD2,TAF1C NINDS_6 nsv518342 16 82785700 82787736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694227 S 2026 0 1 ADAD2 nsv833310 16 82797547 82963492 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452921 S 95 0 1 ATP2C2,KCNG4,WFDC1 nsv907064 16 82812953 82869458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562904 S 6533 0 1 KCNG4 MS25769 esv22859 16 82836063 82836913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20160 S 451 0 1 "" NA19147 nsv907065 16 82843363 83040060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524430 S 6533 1 0 ATP2C2,WFDC1 SP55022 nsv907066 16 82851668 82941827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529425 S 6533 1 0 WFDC1 SP81536 nsv522245 16 82871699 82871951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695025 S 2026 0 1 "" nsv523416 16 82901770 82907503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699168 S 2026 0 1 WFDC1 dgv169n21 16 82937412 83071842 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521995,nsv521819 M 2026 0 2 ATP2C2,KIAA1609 nsv907067 16 82941827 83093567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538139 S 6533 0 1 ATP2C2,KIAA1609 MS13491 nsv457598 16 82958351 83026812 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534748 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2C2 HGDP00033 dgv2933n71 16 82961068 83002192 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907069,nsv907068 M 6533 3 0 ATP2C2 IS35573,IS38183,IS38611 nsv471107 16 82969357 83046534 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545349 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2C2 HGDP00572 nsv457599 16 82969529 83046431 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534749 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2C2 HGDP00572 nsv457600 16 82978761 83092297 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534750 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2C2,KIAA1609 HGDP00805 nsv527957 16 82980316 82985793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704467 S 2026 0 1 ATP2C2 nsv524545 16 82980316 82988377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700496 S 2026 0 1 ATP2C2 esv26698 16 82987700 82989169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16114 S 451 0 1 ATP2C2 NA19129 nsv517727 16 82988282 82988377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687444,nssv653023,nssv691377,nssv673785,nssv658188 M 2026 0 5 ATP2C2 nsv907070 16 82988377 83026653 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529426 S 6533 1 0 ATP2C2 SP81536 nsv523226 16 82988377 83046534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698949 S 2026 0 1 ATP2C2 dgv2934n71 16 83004576 83070079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907072,nsv907071 M 6533 0 3 ATP2C2,KIAA1609 IS37294,IS37577,IS41042 nsv524729 16 83005506 83006122 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700718 S 2026 0 1 ATP2C2 nsv907073 16 83006707 83177497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559112 S 6533 0 1 ATP2C2,COTL1,KIAA1609 MS23714 nsv817746 16 83010853 83011254 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418029 S 112 1 0 ATP2C2 NA07357 nsv827781 16 83022025 83036163 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434031 S 31 1 0 ATP2C2 NA18526 nsv907074 16 83034347 83071842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546903 S 6533 0 1 ATP2C2,KIAA1609 MS17208 nsv907075 16 83040849 83054687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549899 S 6533 0 1 ATP2C2 MS18276 nsv457603 16 83044557 83055189 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534751 S 1557 0 1 ATP2C2 1798860279_A nsv907076 16 83053716 83177497 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524431 S 6533 1 0 ATP2C2,COTL1,KIAA1609 SP55022 esv33856 16 83053982 83054282 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99827 S 51 1 0 ATP2C2 22086 esv33040 16 83056817 83061318 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98766,essv97569,essv101251,essv93873,essv96806,essv95226,essv94729,essv93984,essv94389,essv95755,essv95410,essv97287,essv101645,essv98940,essv92971,essv92677,essv96627,essv97278,essv100069,essv93371,essv99688,essv92546,essv98023,essv96436,essv97727,essv100591 M 51 0 26 "" 21606,21616,21618,21634,21659,21721,21791,21802,21808,21841,21872,21879,21909,21938,21939,21944,22011,22075,22086,22170,22217,22233,22259,22261,22278,22298 esv25896 16 83058850 83062414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15470 S 451 0 18 "" NA06985,NA07037,NA11995,NA12044,NA12287,NA12414,NA12878,NA18502,NA18511,NA18517,NA18858,NA18861,NA18909,NA19099,NA19108,NA19147,NA19225,NA19240 nsv827782 16 83059123 83061619 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422221,nssv1425366,nssv1427892,nssv1426640,nssv1439333,nssv1430656,nssv1430199 M 31 0 7 "" AK14,AK2,AK8,NA18947,NA18969,NA18973,NA18997 nsv514820 16 83059320 83061480 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628273 S 1414 0 1 "" esv268196 16 83069156 83069457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510530 S 157 1 0 Samples from several populations that are part of the HapMap project. KIAA1609 NA18501 nsv833311 16 83080299 83254964 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452922 S 95 0 1 COTL1,KIAA1609,KLHL36 nsv907077 16 83105501 83135494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512636 S 6533 0 1 "" SP55567 nsv457604 16 83107471 83144977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534752 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01266 nsv471108 16 83107471 83149757 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545350 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01266 esv1002146 16 83116217 83116217 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572468 S 3 1 0 "" HuRef nsv528275 16 83138357 83140466 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704844 S 2026 1 0 "" nsv515513 16 83138484 83139269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678297,nssv653406,nssv655525 M 2026 0 3 "" nsv907078 16 83152950 83177497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600275 S 6533 0 1 COTL1 IS41866 nsv457605 16 83170906 83231036 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534753 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COTL1 HGDP01273 nsv471109 16 83170906 83231036 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545351 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COTL1 HGDP01273 nsv907079 16 83182026 83214612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524432 S 6533 1 0 COTL1 SP55022 nsv151 16 83201418 83232168 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv151 S 1 0 1 COTL1 NA15510 nsv1911 16 83201418 83232168 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10963 S 9 0 1 COTL1 NA15510 nsv498866 16 83209417 83228437 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585727 S 9 0 1 "" esv24611 16 83209425 83228440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14823 S 451 0 1 "" NA15510 esv33456 16 83213092 83229821 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101518,essv98689,essv101165,essv93902,essv96790,essv101013,essv95179,essv98204,essv94745,essv94040,essv101377,essv94449,essv96879,essv97840,essv95639,essv95420,essv93162,essv95238,essv97444,essv101737,essv95856,essv94558,essv99059,essv92850,essv92715,essv96162,essv96702,essv97089,essv96068,essv93435,essv93207,essv99687,essv94862,essv92552,essv98066,essv96559,essv99251,essv97726,essv100153,essv100481,essv100315,essv98491,essv96330 M 51 43 0 "" 21603,21606,21618,21634,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,22007,22011,22075,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22352,22371 nsv907080 16 83214612 83259294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586000 S 6533 0 1 KLHL36 IS37646 esv27063 16 83228495 83229075 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13955 S 451 3 0 "" NA18858,NA18916,NA19129 nsv907081 16 83251176 83424503 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524433 S 6533 1 0 CRISPLD2,KLHL36,USP10 SP55022 esv28029 16 83335578 83336731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10026,esv10421 M 451 0 3 USP10 NA07045,NA12776,NA18907 nsv510429 16 83340676 83346676 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618422 S 4 0 1 USP10 CHM esv22326 16 83369952 83371228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18789 S 451 0 4 USP10 NA07045,NA12044,NA12776,NA18916 nsv457606 16 83383437 83486232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534754 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CRISPLD2 HGDP00766 dgv2935n71 16 83386383 83492503 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907083,nsv907084,nsv907082 M 6533 5 0 CRISPLD2 SP50783,SP50822,SP52369,SP55692,SP57250 nsv457608 16 83436787 83463043 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534755 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CRISPLD2 HGDP00562 nsv907085 16 83444745 83465882 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516962 S 6533 1 0 CRISPLD2 SP57009 nsv907086 16 83446042 83492503 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506258 S 6533 1 0 CRISPLD2 SP54095 nsv457610 16 83482495 83500720 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534756 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CRISPLD2 HGDP01217 esv2570296 16 83520816 83521594 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247934 S 1 1 0 "" NA18507 nsv907087 16 83559513 83702406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546904 S 6533 0 1 FAM92B,KIAA0513,ZDHHC7 MS17208 nsv907088 16 83574476 83639089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595141 S 6533 1 0 KIAA0513,ZDHHC7 IS40130 esv29431 16 83597900 83600672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12028 S 451 0 2 ZDHHC7 NA18861,NA18916 esv275013 16 83644647 83650615 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585543,essv2585958 M 1250 1 1 KIAA0513 nsv520920 16 83646696 83654057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697688 S 2026 0 1 KIAA0513 nsv1912 16 83646769 83659796 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1330 S 9 1 0 KIAA0513 NA19240 nsv907089 16 83663144 83715115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543694 S 6533 0 1 FAM92B,KIAA0513 MS16153 nsv907090 16 83663144 84374825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530851 S 6533 0 1 C16orf74,COX4NB,FAM92B,GINS2,KIAA0182,KIAA0513,LINC00311,LOC400548,LOC727710,MIR1910 MS10311 esv269266 16 83666175 83666520 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558149,essv2565802,essv2575822,essv2541029,essv2536373,essv2531786,essv2577442,essv2576861,essv2525368,essv2534992,essv2529136,essv2578078,essv2559454,essv2564047,essv2554903,essv2561761,essv2537423,essv2528217,essv2546634,essv2557345,essv2557105,essv2538955,essv2544702,essv2528983,essv2535817,essv2566838,essv2542188,essv2550983,essv2527912,essv2573982,essv2575696,essv2575049,essv2526410,essv2572731,essv2568625,essv2549767,essv2571179,essv2546012,essv2536304,essv2549111,essv2525044 M 157 41 0 Samples from several populations that are part of the HapMap project. KIAA0513 NA06986,NA07037,NA07357,NA10851,NA11829,NA11830,NA11831,NA11920,NA12006,NA12043,NA12154,NA12156,NA12249,NA12749,NA12761,NA12776,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18519,NA18526,NA18579,NA18608,NA18853,NA18856,NA18858,NA18907,NA18951,NA19099,NA19102,NA19114,NA19143,NA19147,NA19225,NA19238,NA19239 esv273211 16 83666182 83666527 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581827,essv2582379,essv2583036,essv2583906,essv2584566 M 7 5 0 Samples from several populations that are part of the HapMap project. KIAA0513 NA12878,NA12891,NA12892,NA19238,NA19239 nsv907091 16 83674504 83735148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559099 S 6533 1 0 FAM92B,KIAA0513,LOC400548 MS23713 nsv907092 16 83694752 83921816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519390 S 6533 0 1 FAM92B,LINC00311,LOC400548,LOC727710 SP81014 dgv2936n71 16 83698793 83783372 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907094,nsv907093 M 6533 0 2 FAM92B,LOC400548 IS33684,MS13770 esv2546023 16 83706118 83707968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171377 S 1 0 1 "" NA18507 esv2283489 16 83706821 83707799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510973 S 1 0 1 "" NA18507 nsv103637 16 83707046 83707633 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122215 M 24 "" nsv827783 16 83708376 83712038 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436408 S 31 0 1 "" NA18592 nsv827784 16 83709880 83712251 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427109 S 31 0 1 "" AK6 nsv907095 16 83711778 83746718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549900 S 6533 0 1 LOC400548 MS18276 dgv2937n71 16 83729388 83783372 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907097,nsv907096 M 6533 0 3 LOC400548 IS32322,IS41634,MS16153 esv275398 16 83739296 83740131 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585523 S 1250 0 1 LOC400548 esv274889 16 83741515 83743620 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585505,essv2585604 M 1250 1 1 "" esv992780 16 83744848 83747644 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563516 S 3 0 0 "" HuRef esv2429572 16 83746155 83747328 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293541 S 1 0 0 "" NA18507 esv1149324 16 83746237 83747302 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959658 S 2 0 0 "" HuRef esv1914952 16 83746238 83747302 OTHER Inversion Feuk_et_al_2005 16254605 FISH,PCR Not Provided essv4491059 S 18 0 0 "" esv9026 16 83746333 83747453 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31467 S 1 0 0 "" SJK nsv436699 16 83746823 83748870 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465582 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv833312 16 83749375 83918933 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452924,nssv1452923 M 95 0 2 LINC00311,LOC727710 esv1532065 16 83754479 83754479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638579 S 2 1 0 "" HuRef nsv827785 16 83759334 83762842 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422694 S 31 1 0 "" NA18547 esv22822 16 83799047 83800555 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16558 S 451 0 1 "" NA12239 nsv907098 16 83799785 83910199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573920 S 6533 0 1 LINC00311,LOC727710 IS33504 nsv457611 16 83805825 83861626 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534757 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00685 nsv907099 16 83853732 83994090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543696 S 6533 0 1 LINC00311,LOC727710 MS16153 nsv517320 16 83855188 83867391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665387,nssv666235,nssv684884,nssv678122,nssv651704,nssv653079,nssv692093,nssv703281,nssv686677,nssv678967,nssv662295,nssv658047,nssv682625,nssv688836,nssv677404,nssv669724,nssv677374,nssv691582,nssv680110,nssv652393,nssv687546,nssv687691,nssv662986,nssv675844,nssv690629,nssv668490,nssv670956,nssv690602,nssv653407,nssv691693,nssv670553,nssv670311,nssv659244,nssv659143 M 2026 0 34 "" nsv907100 16 83855188 83888530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534644 S 6533 0 1 LINC00311,LOC727710 MS11703 nsv820448 16 83859332 83862467 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419895 S 1 0 1 "" NA10851 nsv827787 16 83859332 83862467 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432483,nssv1429457,nssv1426183,nssv1440008,nssv1439334,nssv1430668,nssv1427110,nssv1430961 M 31 0 8 "" AK12,AK16,AK20,AK4,AK6,NA18537,NA18947,NA18973 nsv819995 16 83859801 83862615 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419479 S 2 1 0 "" AK1 esv28457 16 83859817 83862162 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14884,esv19496 M 451 35 1 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv496n67 16 83859962 83861898 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827792,nsv827791,nsv827788,nsv827789,nsv827790 M 31 0 15 "" AK10,AK18,AK2,AK8,NA18542,NA18547,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18972,NA18997,NA18999 dgv2938n71 16 83861626 83913630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907101,nsv907102 M 6533 0 2 LINC00311,LOC727710 IS33684,IS39233 nsv833313 16 83873509 84049424 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452925 S 95 0 1 LINC00311,LOC727710 nsv907103 16 83888530 83934389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586001 S 6533 0 1 LOC727710 IS37646 dgv2939n71 16 83893452 84030619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907106,nsv907104,nsv907107 M 6533 0 3 LOC727710 MS10123,MS17208,MS18276 nsv907105 16 83895872 83926076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518430 S 6533 0 1 "" SP57553 esv4262 16 83898601 85737128 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26703 S 1 0 0 Single Asian sample YH C16orf74,COX4I1,COX4NB,FLJ30679,FOXC2,FOXF1,FOXL1,GINS2,IRF8,KIAA0182,LOC146513,LOC400550,LOC732275,MIR1910,MTHFSD YH esv1008020 16 83901328 83905395 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565272 S 3 0 1 "" HuRef nsv907108 16 83930298 83964955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510941 S 6533 0 1 "" SP54988 dgv2940n71 16 83930298 84005439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907110,nsv907109 M 6533 0 2 "" MS10698,MS13770 nsv457612 16 83934389 83987411 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534758 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00776 dgv2941n71 16 83952115 84005439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907113,nsv907111,nsv907112 M 6533 0 5 "" IS35484,IS38840,MS10769,MS11306,MS13095 nsv907114 16 83959500 83982738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499942 S 6533 0 1 "" SP50159 nsv152 16 83973688 84006192 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv152 S 1 0 1 "" NA15510 nsv1913 16 83973688 84012303 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10964,nssv5619,nssv1331,nssv6688,nssv2154 M 9 0 5 "" NA12156,NA15510,NA18555,NA19129,NA19240 esv2001453 16 83974026 83975420 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765256 S 1 0 1 "" NA18507 esv2578266 16 83974046 83976358 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298316 S 1 0 1 "" NA18507 esv2580926 16 83991585 83991740 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182008 S 1 0 1 "" NA18507 esv996278 16 83994132 84004880 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563985 S 3 0 1 "" HuRef nsv9465 16 83994558 84005459 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22644,nssv26769,nssv24723,nssv25537,nssv23269,nssv20585,nssv23104,nssv27093,nssv23173,nssv25906,nssv23784,nssv21952,nssv22596,nssv24015,nssv23962,nssv23496,nssv25218,nssv22652,nssv24430 M 31 8 11 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA12155,NA12740,NA18502,NA18504,NA18537,NA18563,NA18564,NA18853,NA18860,NA18942,NA18975,NA19007,NA19144,NA19173,NA19240 nsv821554 16 83995012 84003892 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419896 S 1 0 1 "" NA10851 esv27998 16 83995102 84003897 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11584,esv11418 M 451 4 27 "" NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12776,NA15510,NA18502,NA18508,NA18511,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514821 16 83995256 84005656 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627167 S 1414 0 0 "" esv1369277 16 83995706 83996103 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4168345 S 2 0 1 "" HuRef esv1575511 16 83996194 83996358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603698 S 2 0 1 "" HuRef esv1118135 16 83996397 83998479 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921102 S 2 0 1 "" HuRef nsv511566 16 83997303 84004685 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626192 S 1 0 1 "" 1 esv1620286 16 83998512 83998611 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800364 S 2 0 1 "" HuRef esv1118329 16 83998638 83998806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215550 S 2 0 1 "" HuRef esv1615954 16 83999144 83999238 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674770 S 2 0 1 "" HuRef nsv103699 16 84002185 84003833 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122277 M 24 "" esv1665247 16 84003325 84003427 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997253 S 2 0 1 "" HuRef dgv2942n71 16 84033004 84256403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907116,nsv907115 M 6533 0 2 KIAA0182 IS33178,MS17208 nsv907117 16 84098885 84146931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520802 S 6533 0 1 "" SP51257 nsv907118 16 84103118 84256403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592343 S 6533 0 1 KIAA0182 IS39233 esv2441212 16 84109914 84110888 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189716 S 1 1 0 "" NA18507 nsv827793 16 84142342 84150551 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427111 S 31 1 0 "" AK6 esv1001323 16 84176065 84195383 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564450 S 3 0 0 "" HuRef nsv907119 16 84178403 84254119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510942 S 6533 0 1 KIAA0182 SP54988 nsv515746 16 84182628 84242621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684299,nssv664653 M 2026 0 2 KIAA0182 esv1101106 16 84195881 84195881 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763691 S 2 1 0 "" HuRef esv27887 16 84202480 84203424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16954 S 451 0 1 KIAA0182 NA19129 nsv526299 16 84242621 84259087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702580 S 2026 0 1 KIAA0182 nsv833316 16 84288439 84491140 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452926,nssv1452927 M 95 0 2 C16orf74,COX4I1,COX4NB,IRF8,MIR1910 nsv527240 16 84300565 84352773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703642 S 2026 0 1 C16orf74,MIR1910 esv1023256 16 84307468 84307668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662666 S 2 0 1 C16orf74 HuRef nsv510693 16 84309198 84363046 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620092 S 4 0 1 C16orf74,MIR1910 NA15510 esv1115251 16 84357970 84358020 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344712 S 2 0 1 "" HuRef nsv513457 16 84425210 84425337 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625860 S 1 1 0 "" 1 nsv907120 16 84436698 84470371 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501841 S 6533 1 0 "" SP50915 esv275382 16 84455377 84458109 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586095 S 1250 0 1 "" nsv1914 16 84457587 84492774 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4237 S 9 1 0 IRF8 NA12878 esv987890 16 84460106 84470207 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565583 S 3 0 1 "" HuRef esv3116 16 84474485 84475019 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25557 S 1 0 1 Single Asian sample YH "" YH esv2075440 16 84474511 84474935 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666860 S 1 0 1 "" NA18507 esv990710 16 84474580 84474718 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577848 S 3 0 1 "" HuRef esv1715607 16 84474659 84474798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845827 S 2 0 1 "" HuRef nsv907121 16 84478848 84510246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546907 S 6533 0 1 IRF8 MS17208 nsv517900 16 84481566 84483902 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695309 S 2026 1 0 "" nsv9466 16 84508957 84511013 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28123 S 31 1 0 Samples from several populations that are part of the HapMap project. IRF8 NA19221 nsv526306 16 84539747 84542101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702589 S 2026 0 1 "" nsv509636 16 84547935 84570807 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623704 S 4 1 0 "" NA18994 nsv526694 16 84553085 84555097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703031 S 2026 0 1 "" esv2775 16 84554386 84555194 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25216 S 1 0 1 Single Asian sample YH "" YH nsv827794 16 84554474 84554912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436216 S 31 0 1 "" NA18566 dgv497n67 16 84554474 84555236 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827796,nsv827795 M 31 0 4 "" AK18,NA18526,NA18552,NA18570 esv21469 16 84554599 84555103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10354 S 451 0 1 "" NA18861 nsv9467 16 84561136 84567780 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22626,nssv24541,nssv26685,nssv23662,nssv23201,nssv23297,nssv20615,nssv26511,nssv27103,nssv20719,nssv24456,nssv28125,nssv26599,nssv21251,nssv23811,nssv23132,nssv24042,nssv21982,nssv20680,nssv23524,nssv22674,nssv25560 M 31 21 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA10863,NA11830,NA12740,NA12802,NA12872,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19007,NA19132,NA19173,NA19221,NA19240 esv28940 16 84563572 84565182 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15539,esv12263 M 451 0 13 "" NA12239,NA12828,NA15510,NA18505,NA18517,NA18523,NA18909,NA19099,NA19108,NA19114,NA19129,NA19225,NA19240 esv2500315 16 84563606 84565392 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187806 S 1 0 1 "" NA18507 nsv820554 16 84564047 84565182 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419897 S 1 0 1 "" NA10851 esv1759539 16 84564086 84564416 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036678 S 2 0 1 "" HuRef esv23123 16 84566187 84566657 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19071 S 451 1 0 "" NA07045 esv1100332 16 84566199 84566199 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718263 S 2 1 0 "" HuRef esv2599204 16 84604828 84605300 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279821 S 1 1 0 "" NA18507 nsv1915 16 84608043 84640642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6689 S 9 1 0 "" NA12156 nsv457613 16 84611335 84632417 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534759 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00785 esv2347369 16 84631178 84631606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540806 S 1 0 1 "" NA18507 esv3750 16 84631290 84631694 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26191 S 1 0 1 Single Asian sample YH "" YH nsv522448 16 84648399 84648572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705807 S 2026 1 0 "" nsv524914 16 84648399 84649131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700926 S 2026 0 1 "" esv25532 16 84666928 84677040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13236 S 451 0 1 "" NA12749 nsv907122 16 84675119 84742273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536301 S 6533 0 1 "" MS12688 dgv2943n71 16 84677876 84716871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907123,nsv907124 M 6533 0 2 "" MS16153,MS17208 nsv520443 16 84680025 84680729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697423 S 2026 0 1 "" esv1620297 16 84699003 84699084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945252 S 2 0 1 "" HuRef esv1660192 16 84699150 84699288 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612746 S 2 0 1 "" HuRef nsv907125 16 84702870 84724633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530852 S 6533 0 1 "" MS10311 nsv516213 16 84713465 84714361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666852,nssv656353 M 2026 0 2 "" dgv2944n71 16 84716871 84756685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907127,nsv907126 M 6533 0 2 "" MS12861,MS15491 dgv2945n71 16 84733792 84756685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907129,nsv907128 M 6533 0 3 "" IS34264,IS38840,MS22993 nsv833317 16 84743365 84933059 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452928 S 95 1 0 LOC146513,LOC732275 esv2276720 16 84798798 84799223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965837 S 1 0 1 "" NA18507 dgv2946n71 16 84824068 84859533 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907130,nsv907131 M 6533 0 4 "" IS37946,MS16965,MS25769,SP50179 nsv524026 16 84832585 84834942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699889 S 2026 0 1 "" dgv917e1 16 84834231 84849716 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1424,essv12137 M 271 0 0 "" NA19173 esv2575962 16 84841240 84842890 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196137 S 1 0 1 "" NA18507 esv1953410 16 84841622 84842309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794830 S 1 0 1 "" NA18507 esv3909 16 84841750 84842193 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26350 S 1 0 1 Single Asian sample YH "" YH esv2639383 16 84841812 84842119 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194015 S 1 0 1 "" NA18507 esv6907 16 84841823 84842120 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29348 S 1 0 1 "" SJK esv271244 16 84862444 84862817 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512490,essv2496426,essv2509111,essv2493956,essv2506486,essv2502119 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18522,NA18871,NA19108,NA19257 esv1161820 16 84869948 84869948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009026 S 2 1 0 "" HuRef esv9547 16 84936817 84943063 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31988 S 1 0 0 "" SJK esv275501 16 84949950 84953148 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585591 S 1250 0 1 "" esv25823 16 84960611 84961816 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15443 S 451 0 2 "" NA12239,NA12749 nsv517218 16 84978318 84978371 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684827,nssv671934,nssv661604,nssv692259,nssv662467,nssv691979,nssv654670,nssv676357,nssv664162,nssv658495,nssv682172,nssv671050,nssv656354,nssv698852,nssv683645,nssv688656,nssv684353,nssv665388,nssv678431,nssv690127,nssv665120,nssv683857,nssv670714,nssv682750,nssv686678,nssv663000,nssv653333,nssv692800,nssv692964,nssv665777,nssv653720,nssv680703,nssv674087,nssv657810,nssv688550,nssv678473,nssv691225,nssv673896,nssv676854,nssv656884,nssv678751,nssv657688,nssv690307,nssv682289,nssv687402,nssv684163,nssv662949,nssv661144,nssv656837,nssv665837,nssv679401,nssv660829,nssv686620,nssv669150,nssv678596,nssv679221,nssv654994,nssv654692,nssv664429,nssv674197,nssv655932,nssv663725,nssv666999,nssv661513,nssv665266,nssv693830,nssv663644,nssv680963,nssv686836,nssv658379,nssv659421,nssv671121,nssv674772,nssv690285,nssv689666,nssv655147,nssv677470,nssv693632,nssv666252,nssv675087,nssv678070,nssv669931,nssv669239,nssv652863,nssv676685,nssv663672,nssv683187,nssv674677,nssv679467,nssv674973,nssv673396,nssv659356 M 2026 91 1 "" esv1670241 16 84986339 84986393 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069081 S 2 0 1 "" HuRef nsv518275 16 85004685 85004856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695707 S 2026 0 1 "" esv4651 16 85022232 85022539 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27092 S 1 0 1 Single Asian sample YH "" YH esv2513386 16 85055376 85056123 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266956 S 1 1 0 "" NA18507 nsv525024 16 85070722 85184943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701063 S 2026 0 1 FLJ30679,FOXC2,FOXF1,FOXL1,LOC400550,MTHFSD dgv498n67 16 85074275 85178636 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827798,nsv827799 M 31 2 0 FLJ30679,FOXC2,FOXF1,FOXL1,LOC400550,MTHFSD NA18969,NA18973 essv7962 16 85079026 85084370 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC400550 NA19203 dgv918e1 16 85079026 85094533 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4511,esv1082 M 271 0 0 LOC400550 NA18623 nsv907132 16 85082979 85162542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546909 S 6533 0 1 FLJ30679,FOXC2,FOXF1,LOC400550,MTHFSD MS17208 nsv907133 16 85084370 85109283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506070 S 6533 0 1 FOXF1,LOC400550 SP54043 nsv9468 16 85085656 85102849 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24019,nssv23229,nssv24069,nssv26697,nssv22682,nssv28127 M 31 6 0 Samples from several populations that are part of the HapMap project. FOXF1,LOC400550 NA07029,NA07048,NA12740,NA18517,NA18537,NA19221 nsv527579 16 85086281 85109283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704040 S 2026 0 1 FOXF1,LOC400550 nsv510430 16 85089907 85095907 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624181,nssv621440 M 4 0 2 LOC400550 NA15510,NA18994 esv29890 16 85099600 85103508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12743 S 451 0 1 FOXF1,LOC400550 NA18511 dgv2947n71 16 85113242 85172770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907135,nsv907134,nsv907136 M 6533 0 3 FLJ30679,FOXC2,FOXL1,MTHFSD IS32322,IS37646,MS16153 esv991781 16 85113840 85113840 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575533 S 3 1 0 "" HuRef esv272031 16 85117830 85118138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517531,essv2515127,essv2516594,essv2518056,essv2515865 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12812,NA12814,NA12872,NA12873 nsv907137 16 85122172 85160208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586271 S 6533 0 1 FLJ30679,FOXC2,MTHFSD IS37713 nsv907138 16 85146494 85172770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510943 S 6533 0 1 FLJ30679,FOXC2,FOXL1 SP54988 esv26858 16 85185098 85187944 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10223 S 451 0 1 "" NA18858 esv1929979 16 85194317 85194665 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668786 S 1 0 1 "" NA18507 esv3564 16 85194480 85194944 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26005 S 1 0 1 Single Asian sample YH "" YH esv1308410 16 85194620 85194901 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649695 S 2 0 1 "" HuRef dgv2948n71 16 85196450 85219811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907140,nsv907139 M 6533 0 11 "" MS17085,MS24461,SP50561,SP51196,SP53863,SP53876,SP54123,SP55028,SP56950,SP57640,SP57874 nsv907141 16 85257186 85308048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530853 S 6533 0 1 "" MS10311 nsv907142 16 85287194 85308696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546910 S 6533 0 1 "" MS17208 esv996346 16 85288539 85300073 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565625 S 3 0 1 "" HuRef nsv907143 16 85304885 85357355 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591411 S 6533 1 0 "" IS38804 esv275397 16 85310464 85311523 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585363 S 1250 0 1 "" nsv907144 16 85324767 85354116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546911 S 6533 0 1 "" MS17208 esv28738 16 85327562 85328787 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13581 S 451 1 0 "" NA11894 esv273987 16 85331488 85331573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581107 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv907145 16 85344426 85364703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552073 S 6533 0 1 "" MS19159 nsv516630 16 85365176 85385659 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653253,nssv669403 M 2026 0 2 "" nsv103659 16 85371727 85371727 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122237 M 24 "" nsv1916 16 85388538 85433860 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7288 S 9 0 1 "" NA12156 dgv919e1 16 85399263 85564336 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18638,esv851 M 271 0 0 "" NA12234 nsv833318 16 85399265 85564330 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452929 S 95 0 1 "" nsv907146 16 85427649 85472243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545791 S 6533 0 1 "" MS16947 esv27657 16 85436448 85437363 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12741 S 451 0 14 "" NA06985,NA11993,NA11995,NA12044,NA12156,NA12749,NA12776,NA15510,NA18861,NA18916,NA19099,NA19114,NA19147,NA19225 nsv907147 16 85454227 85483946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543699 S 6533 0 1 "" MS16153 nsv520672 16 85475004 85477682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675335,nssv678568,nssv676052,nssv673786,nssv686578 M 2026 0 5 "" esv2096722 16 85480105 85480695 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987206 S 1 0 1 "" NA18507 esv1342740 16 85480432 85480764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937351 S 2 0 1 "" HuRef nsv9470 16 85519638 85523198 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23257 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv907148 16 85533934 85624001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534750 S 6533 0 1 "" MS11726 essv5760 16 85539033 85549747 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18540 essv23731 16 85539033 85558564 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12813 nsv509637 16 85570318 85603896 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623706 S 4 1 0 "" NA18994 nsv833319 16 85576497 85754878 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452930 S 95 0 1 "" nsv513458 16 85577921 85578078 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625861 S 1 1 0 "" 1 nsv907149 16 85594229 85620561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537143,nssv1552003,nssv1539798 M 6533 0 3 "" MS13095,MS14502,MS19093 nsv457614 16 85602131 85623320 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534760 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00725 esv2120573 16 85604846 85605243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889424 S 1 0 1 "" NA18507 nsv518841 16 85611230 85616837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696294 S 2026 0 1 "" dgv2949n71 16 85611230 85624001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907151,nsv907150 M 6533 0 2 "" IS35484,MS10311 nsv907152 16 85611230 85630286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579451 S 6533 0 1 "" IS35102 nsv527723 16 85622534 85623320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704204 S 2026 0 1 "" nsv526657 16 85623320 85627484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702985 S 2026 0 1 "" esv2368226 16 85629570 85629977 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780972 S 1 0 1 "" NA18507 esv1444664 16 85629726 85629790 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171929 S 2 0 1 "" HuRef nsv103361 16 85640599 85640599 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121939 M 24 "" nsv436216 16 85708333 85714359 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465583 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv269051 16 85749140 85749474 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516784,essv2518433,essv2514937,essv2516576,essv2517610 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12287,NA12812,NA12814,NA12878 esv272776 16 85749140 85749474 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581494 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv29138 16 85753615 85754326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10616 S 451 0 1 "" NA18502 esv1406854 16 85778744 85778806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262265 S 2 0 1 "" HuRef esv1106085 16 85778937 85778937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221622 S 2 1 0 "" HuRef esv29867 16 85808700 85809810 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12528 S 451 0 2 "" NA18508,NA18517 nsv103390 16 85809499 85809590 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121968 M 24 "" nsv827800 16 85810127 85810569 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424600 S 31 0 1 "" NA18582 nsv1917 16 85821074 85840649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7289 S 9 1 0 "" NA12156 nsv827801 16 85853121 85853877 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432484 S 31 1 0 "" AK20 nsv907153 16 85858461 86327205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546912 S 6533 0 1 C16orf95,FBXO31,JPH3,KLHDC4,MAP1LC3B,ZCCHC14 MS17208 nsv510694 16 85867456 85991191 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620093 S 4 0 1 C16orf95,FBXO31,MAP1LC3B NA15510 nsv907154 16 85867749 85929253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549576 S 6533 1 0 C16orf95,FBXO31 MS18273 nsv907155 16 85886098 85946502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543700 S 6533 0 1 C16orf95,FBXO31 MS16153 nsv907156 16 85886098 86068968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530855 S 6533 0 1 C16orf95,FBXO31,MAP1LC3B,ZCCHC14 MS10311 nsv907157 16 85890034 85929253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601012 S 6533 1 0 C16orf95,FBXO31 IS41956 nsv833320 16 85906951 86092333 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452931,nssv1452933,nssv1452932 M 95 3 0 C16orf95,FBXO31,MAP1LC3B,ZCCHC14 nsv428330 16 85928029 86224189 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453273,nssv453272 M 62 2 0 FBXO31,JPH3,MAP1LC3B,ZCCHC14 HGDP00472,HGDP00984 dgv499n67 16 85945085 86000336 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827802,nsv827803 M 31 2 0 FBXO31,MAP1LC3B,ZCCHC14 NA18969,NA18973 dgv2950n71 16 85972751 86068968 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907158,nsv907159 M 6533 0 2 FBXO31,MAP1LC3B,ZCCHC14 IS37646,IS41634 nsv827804 16 85999244 86000070 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423812 S 31 1 0 ZCCHC14 NA18999 nsv907160 16 86012884 86051238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575746 S 6533 0 1 ZCCHC14 IS33797 nsv907161 16 86012884 86095526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571942 S 6533 0 1 ZCCHC14 IS32841 esv33545 16 86015504 86016210 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98884 S 51 1 0 ZCCHC14 21606 nsv833321 16 86026865 86190517 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452940,nssv1452936,nssv1452937,nssv1452935,nssv1452942,nssv1452941,nssv1452934,nssv1452939,nssv1452938 M 95 1 8 ZCCHC14 nsv907162 16 86038929 86068968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588247 S 6533 0 1 ZCCHC14 IS38176 nsv525605 16 86041339 86045686 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701749 S 2026 1 0 ZCCHC14 dgv500n67 16 86065508 86096377 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827806,nsv827805 M 31 3 0 ZCCHC14 NA18968,NA18969,NA18973 esv24735 16 86067108 86140688 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16842,esv13654,esv20009 M 451 9 0 ZCCHC14 NA07037,NA12044,NA15510,NA18502,NA18858,NA18861,NA18909,NA19147,NA19240 esv1007865 16 86067608 86116994 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586691 S 3 0 1 ZCCHC14 HuRef dgv501n67 16 86069080 86089697 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827810,nsv827807 M 31 2 0 ZCCHC14 NA18582,NA18997 nsv827811 16 86079804 86085615 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422718 S 31 1 0 ZCCHC14 NA18547 esv2608515 16 86092851 86093597 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166304 S 1 1 0 "" NA18507 esv2429195 16 86093481 86093796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326007 S 1 0 1 "" NA18507 nsv1918 16 86098534 86143546 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7291 S 9 0 1 "" NA12156 dgv502n67 16 86108135 86116997 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827813,nsv827812 M 31 3 0 "" NA18582,NA18968,NA18973 nsv524450 16 86138330 86142249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700383 S 2026 0 1 "" dgv2951n71 16 86138356 86180981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907164,nsv907163 M 6533 0 3 "" MS11306,MS11726,MS19630 nsv907165 16 86138699 86240305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573921 S 6533 0 1 JPH3 IS33504 nsv457615 16 86141814 86180981 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534761 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00607 esv273582 16 86150235 86151842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578966,essv2579651 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv907166 16 86152661 86220247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538707 S 6533 0 1 JPH3 MS13770 esv2239618 16 86154992 86155465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744794 S 1 0 1 "" NA18507 esv5434 16 86155063 86155344 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27875 S 1 0 1 Single Asian sample YH "" YH esv1526721 16 86155192 86155291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991874 S 2 0 1 "" HuRef nsv510695 16 86167135 86223037 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620094 S 4 0 1 JPH3 NA15510 dgv503n67 16 86191599 86196143 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827814,nsv827815 M 31 2 0 JPH3 NA18526,NA18547 esv24856 16 86193248 86196238 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10809 S 451 0 1 JPH3 NA18511 nsv907167 16 86202008 86253491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549902 S 6533 0 1 JPH3 MS18276 dgv2952n71 16 86204937 86240305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907168,nsv907169 M 6533 0 2 JPH3 IS30197,MS10311 dgv2953n71 16 86205698 86299593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907170,nsv907171 M 6533 0 2 JPH3,KLHDC4 IS33162,IS35007 dgv2954n71 16 86226080 86340884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907172,nsv907173 M 6533 0 2 JPH3,KLHDC4 IS32322,IS39233 nsv827816 16 86226223 86226731 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424603 S 31 1 0 JPH3 NA18582 nsv907174 16 86229994 86246837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510944 S 6533 0 1 JPH3 SP54988 nsv907175 16 86229994 86284047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574807 S 6533 0 1 JPH3 IS33630 dgv2955n71 16 86245440 86346337 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907181,nsv907180,nsv907176,nsv907179,nsv907178 M 6533 0 6 JPH3,KLHDC4 IS33601,MS10311,MS10769,MS13770,MS16153,MS18276 nsv907177 16 86253773 86299593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572157,nssv1597505 M 6533 0 2 JPH3,KLHDC4 IS32888,IS41243 nsv907182 16 86253773 86488782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567148 S 6533 0 1 CA5A,JPH3,KLHDC4,SLC7A5 IS31045 nsv527983 16 86260171 86267434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704502 S 2026 0 1 JPH3 nsv471110 16 86260171 86285238 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545352 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations JPH3 HGDP00591 nsv103793 16 86262682 86262733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122371 M 24 JPH3 nsv103166 16 86262719 86262770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121744 M 24 JPH3 dgv2956n71 16 86263115 86340884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907192,nsv907183,nsv907186,nsv907189,nsv907190,nsv907193,nsv907188,nsv907185 M 6533 0 12 JPH3,KLHDC4 IS32737,IS32841,IS33455,IS33504,IS33684,IS34235,IS34304,IS35484,IS40230,MS16315,SP54956,SP54988 dgv2957n71 16 86267434 86306049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907187,nsv907191,nsv907184 M 6533 0 3 JPH3,KLHDC4 IS37172,IS40396,MS13727 esv990733 16 86274627 86282833 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565715 S 3 0 1 JPH3 HuRef esv29774 16 86277101 86277836 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10178 S 451 0 1 JPH3 NA12414 esv2229873 16 86277324 86277775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852690 S 1 0 1 JPH3 NA18507 esv1008276 16 86278183 86278457 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564247 S 3 1 0 JPH3 HuRef dgv504n67 16 86287705 86333575 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827818,nsv827817 M 31 2 0 JPH3,KLHDC4 NA18969,NA18973 esv1009822 16 86295506 86295613 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569913 S 3 0 1 "" HuRef esv1274118 16 86295523 86295634 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714570 S 2 0 1 "" HuRef nsv457616 16 86296359 86505516 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534762 S 1557 1 0 CA5A,KLHDC4,SLC7A5 1798860491_A nsv833322 16 86306136 86475977 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452943 S 95 0 1 KLHDC4,SLC7A5 esv28345 16 86317124 86318463 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11844 S 451 1 1 KLHDC4 NA12044,NA15510 esv993111 16 86317313 86317649 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575102 S 3 0 1 KLHDC4 HuRef esv1590350 16 86317330 86317595 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141160 S 2 0 1 KLHDC4 HuRef esv1006084 16 86317482 86318186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565557 S 3 0 1 KLHDC4 HuRef esv1228666 16 86317616 86317688 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148684 S 2 0 1 KLHDC4 HuRef esv3822 16 86324656 86325038 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26263 S 1 0 1 Single Asian sample YH KLHDC4 YH esv1374631 16 86329931 86330578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060489 S 2 0 1 KLHDC4 HuRef nsv907194 16 86349893 86430748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530054 S 6533 0 1 KLHDC4,SLC7A5 MS10184 nsv907195 16 86376070 86465902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546913 S 6533 0 1 SLC7A5 MS17208 nsv511562 16 86383176 86392444 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626187 S 1 0 1 "" 1 dgv505n67 16 86385576 86387558 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827823,nsv827821,nsv827822,nsv827819 M 31 0 5 "" AK20,NA18537,NA18547,NA18564,NA18582 nsv512449 16 86385768 86389201 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625045 S 1 0 1 "" 1 esv25149 16 86385927 86390257 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15168,esv14315 M 451 0 12 "" NA11894,NA12287,NA15510,NA18502,NA18508,NA18517,NA18523,NA19099,NA19147,NA19225,NA19240,NA19257 dgv36n68 16 86392843 86574657 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833324,nsv833323 M 95 0 7 BANP,CA5A,SLC7A5 dgv2958n71 16 86406404 86431641 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907196,nsv907198 M 6533 0 2 SLC7A5 IS39233,MS11726 dgv2959n71 16 86406404 86469410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907197,nsv907206,nsv907202 M 6533 0 9 SLC7A5 IS31656,IS32737,IS33162,IS33504,IS38293,IS40396,IS40799,MS16315,MS18276 dgv2960n71 16 86413596 86439625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907199,nsv907200 M 6533 0 2 SLC7A5 IS33248,IS35484 dgv2961n71 16 86413596 86446704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907201,nsv907205 M 6533 0 2 SLC7A5 IS32322,IS33684 dgv2962n71 16 86413596 86488782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907207,nsv907203 M 6533 0 2 CA5A,SLC7A5 IS37985,MS10769 nsv907204 16 86418824 86427141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499614 S 6533 0 1 SLC7A5 SP50159 nsv907208 16 86421976 86425373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510946 S 6533 0 1 SLC7A5 SP54988 nsv907209 16 86421976 86427141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514303 S 6533 0 1 SLC7A5 SP55992 nsv907210 16 86430748 86506355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543702 S 6533 0 1 CA5A,SLC7A5 MS16153 nsv907211 16 86433796 86747799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530858 S 6533 0 1 BANP,CA5A,SLC7A5 MS10311 esv1188587 16 86436637 86436637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020537 S 2 1 0 SLC7A5 HuRef esv24582 16 86446302 86517872 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19079 S 451 5 0 CA5A,SLC7A5 NA07045,NA12239,NA18517,NA18861,NA19190 nsv907212 16 86459709 86521216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507277 S 6533 0 1 CA5A,SLC7A5 SP54516 nsv9471 16 86472244 86532249 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26738,nssv28129 M 31 2 0 Samples from several populations that are part of the HapMap project. CA5A NA18517,NA19221 dgv920e1 16 86476851 86671233 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4124,esv317 M 271 0 0 BANP,CA5A NA18555 nsv907213 16 86526650 86601376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570808 S 6533 0 1 BANP,CA5A IS32322 esv2261447 16 86539117 86539539 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980247 S 1 0 1 "" NA18507 nsv103170 16 86539301 86539354 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121748 M 24 "" esv1000768 16 86539302 86539355 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566647 S 3 0 1 "" HuRef esv1526608 16 86539302 86539356 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771745 S 2 0 1 "" HuRef nsv1919 16 86554881 86570715 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6690 S 9 0 1 BANP NA12156 nsv907214 16 86557397 86815544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592346 S 6533 0 1 BANP IS39233 nsv907215 16 86567734 86639452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592716 S 6533 1 0 BANP IS39243 nsv9472 16 86577511 86585221 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26780 S 31 0 1 Samples from several populations that are part of the HapMap project. BANP NA18502 esv23831 16 86580132 86581743 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11920 S 451 0 1 BANP NA19108 nsv1920 16 86581816 86628689 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5620 S 9 0 1 BANP NA19129 nsv9473 16 86589032 86592669 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22012,nssv24096 M 31 0 2 Samples from several populations that are part of the HapMap project. BANP NA12740,NA18942 esv22847 16 86589428 86593465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13369 S 451 0 6 BANP NA12004,NA12749,NA18523,NA18916,NA19147,NA19190 nsv821078 16 86589428 86593465 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419898 S 1 0 1 BANP NA10851 nsv103533 16 86589867 86590016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122111 M 24 BANP nsv512450 16 86590117 86592369 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625046 S 1 0 1 BANP 1 esv997568 16 86591306 86592103 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577934 S 3 0 1 BANP HuRef esv1227822 16 86591392 86592190 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104629 S 2 0 1 BANP HuRef nsv510431 16 86613003 86619003 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622268,nssv624182 M 4 0 2 BANP NA10860,NA18994 dgv2963n71 16 86644908 86755779 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907217,nsv907216 M 6533 0 2 BANP MS17208,SP54956 nsv907218 16 86649779 86829897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549905 S 6533 0 1 BANP MS18276 nsv907219 16 86656783 86674516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510947 S 6533 0 1 BANP SP54988 nsv9474 16 86669288 86674103 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20779,nssv25243,nssv23738,nssv23838,nssv24749,nssv22042,nssv20645,nssv26525,nssv23325,nssv22656,nssv24123,nssv22711,nssv24046 M 31 0 13 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA12155,NA12740,NA18537,NA18563,NA18572,NA18942,NA18972,NA19007,NA19144 nsv827824 16 86669289 86671389 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422756 S 31 0 1 "" NA18547 esv2537374 16 86669785 86673944 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209797 S 1 0 1 "" NA18507 esv2193436 16 86670132 86673334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587197 S 1 0 1 "" NA18507 dgv506n67 16 86670192 86671389 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827825,nsv827826 M 31 0 18 "" AK14,AK16,AK18,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18592,NA18942,NA18947,NA18949,NA18968,NA18972,NA18997,NA18999 esv7148 16 86670220 86673183 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29589 S 1 0 1 "" SJK dgv47n6 16 86670233 86673168 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv103705,nsv103282 M 24 "" esv23594 16 86670393 86673640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10661 S 451 0 15 "" NA06985,NA07045,NA11993,NA11995,NA12004,NA12006,NA12239,NA12776,NA18523,NA18861,NA19099,NA19108,NA19114,NA19190,NA19257 esv2421612 16 86671164 86672892 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5159003,essv5089416,essv5031441,essv5004230,essv5040969,essv5142672,essv5113517,essv5097055,essv5067835,essv5004688,essv5079180,essv5052404,essv5094361,essv5011818,essv5159675,essv5066692,essv5136241,essv5094201,essv5133577,essv5129202,essv5004601,essv5150674,essv5144820,essv5092785,essv5072611,essv5160773,essv5112698,essv5089067,essv5098343,essv5040831,essv5015244,essv5029975,essv5146412,essv5077589,essv5111790,essv5014676,essv5086825,essv5043884,essv5133413,essv5114695,essv5045934,essv5131852,essv5074790,essv5006130,essv5054751,essv5029754,essv5061432,essv5154766,essv5080418,essv5095606,essv5003100,essv5141258,essv5021327,essv5039979,essv5099825,essv5105857,essv5057668,essv5103887,essv5137468,essv5054000,essv5093239,essv5056987,essv5031767,essv5109084,essv5026856,essv5045581,essv5149148,essv5075758,essv5154426,essv5014370,essv5159918,essv5050632,essv5155805,essv5084972,essv5153212,essv5109229,essv5114539,essv5010075,essv5120066,essv5072695,essv5015303,essv5076494,essv5122177,essv5134047,essv5156641,essv5050878,essv5013552,essv5105643,essv5154638,essv5155991,essv5131235,essv5097959,essv5011186,essv5157757,essv5154134,essv5030067,essv5121053,essv5115360,essv5040963,essv5013960,essv5022938,essv5132359,essv5152358,essv5141761,essv5043185,essv5043486,essv5014672,essv5052034,essv5116524,essv5089362,essv5022986,essv5126415,essv5007693,essv5104953,essv5009514,essv5070043,essv5019257,essv5049296,essv5106306,essv5149757,essv5157209,essv5142436,essv5044541,essv5131837,essv5110825,essv5133843,essv5049474,essv5075952,essv5159690,essv5098161,essv5046075,essv5140704,essv5007989,essv5097399,essv5131560,essv5074431,essv5085821,essv5102879,essv5096638,essv5002942,essv5154662,essv5072740,essv5140152,essv5127477,essv5050914,essv5077353,essv5157931,essv5029150,essv5058649,essv5151021,essv5122677,essv5069339,essv5075052,essv5059207,essv5140034,essv5057553,essv5013799,essv5004386,essv5091661,essv5019831,essv5118155,essv5050762,essv5085365,essv5029176,essv5089896,essv5013361,essv5112771,essv5132568,essv5143924,essv5122737,essv5078092,essv5119569,essv5148912,essv5158817,essv5009060,essv5160602,essv5059498,essv5029939,essv5005466,essv5121008,essv5107828,essv5144154,essv5079735,essv5026458,essv5037583,essv5085825,essv5058017,essv5093675,essv5034579,essv5127897,essv5028989,essv5090007,essv5115842,essv5032605,essv5080481,essv5130789,essv5123929,essv5020705,essv5009136,essv5050647,essv5029089,essv5025574,essv5097589,essv5081541,essv5145329,essv5010206,essv5013011,essv5029238,essv5037183,essv5120775,essv5124818,essv5141631,essv5062447,essv5085797,essv5015887,essv5149267,essv5093741,essv5028805,essv5084158,essv5114073,essv5099876,essv5057660,essv5026930,essv5012214,essv5080068,essv5147977,essv5147514,essv5072462,essv5032482,essv5134359,essv5112215,essv5002544,essv5090353,essv5022564,essv5107327,essv5080753,essv5102265,essv5042967,essv5102677,essv5015951,essv5027296,essv5043748,essv5126866,essv5118992,essv5135219,essv5123565,essv5109489,essv5017164,essv5024618,essv5067733,essv5073699,essv5133270,essv5090343,essv5040997,essv5101241,essv5108636,essv5066063,essv5047765,essv5150989,essv5108297,essv5111878,essv5087438,essv5030555,essv5033045,essv5122120,essv5101330,essv5030832,essv5070974,essv5051315,essv5133534,essv5102548,essv5142270,essv5076114,essv5029434,essv5123732,essv5035739,essv5119953,essv5072765,essv5086432,essv5025780,essv5138779,essv5136810,essv5013272,essv5100388,essv5085754,essv5092454,essv5081505,essv5117455,essv5017542,essv5075979,essv5025986,essv5146178,essv5103354,essv5066566,essv5002164,essv5122444,essv5020674,essv5025979,essv5121770,essv5131839,essv5035120,essv5069732,essv5149753,essv5069916,essv5142597,essv5099169,essv5042630,essv5091356,essv5141981,essv5093457,essv5138059,essv5014637,essv5117525,essv5017044,essv5064160,essv5020386,essv5002449,essv5046292,essv5103408,essv5033779,essv5155379,essv5119290,essv5084987,essv5117762,essv5154476,essv5085641,essv5120235,essv5057913,essv5057576,essv5022271,essv5087405,essv5067011,essv5160855,essv5084196,essv5085779,essv5096071,essv5133336,essv5013680,essv5020679,essv5144774,essv5046282,essv5155680,essv5038725,essv5101261,essv5048227,essv5047070,essv5092094,essv5141212,essv5019535,essv5096749,essv5100828,essv5010609,essv5084903,essv5050944,essv5149783,essv5119232,essv5067017,essv5142341,essv5037905,essv5066535,essv5093320,essv5096726,essv5140224,essv5054534,essv5035804,essv5135939,essv5046286,essv5033717,essv5115537,essv5092809,essv5093721,essv5067336,essv5057041,essv5021110,essv5006956,essv5119868,essv5073429,essv5055734,essv5116708,essv5049399,essv5081487,essv5080789,essv5082903,essv5005671,essv5010971,essv5022167,essv5068814,essv5079990,essv5058638,essv5111182,essv5151229,essv5014082,essv5157295,essv5037333,essv5051322,essv5085799,essv5061655,essv5091493,essv5056349,essv5052510,essv5134647,essv5055922,essv5119931,essv5063323,essv5013332,essv5093814,essv5078385,essv5101514,essv5158057,essv5078761,essv5154556,essv5079845,essv5082381,essv5044827,essv5116930,essv5008388,essv5060412,essv5064698,essv5067620,essv5020511,essv5075343,essv5092047,essv5149661,essv5089224,essv5152477,essv5130519,essv5057931,essv5103548,essv5082521,essv5065894,essv5030213,essv5080144,essv5060514,essv5075408,essv5141771,essv5097697,essv5152047,essv5089979,essv5019712,essv5081838,essv5059003,essv5015949,essv5061067,essv5083005,essv5080369,essv5007235,essv5029428,essv5005307,essv5062275,essv5063923,essv5103657,essv5108308,essv5086265,essv5104017,essv5050717,essv5042133,essv5097311,essv5132627,essv5150312,essv5034372,essv5025696,essv5084802,essv5013860,essv5094073,essv5029181,essv5159147,essv5075247,essv5069898,essv5002321,essv5052553,essv5043569,essv5101268,essv5144846,essv5004639,essv5130764,essv5095182,essv5087938,essv5102190,essv5141407,essv5088230,essv5055450,essv5158976,essv5061985,essv5093249,essv5075335,essv5034463,essv5132425,essv5122399,essv5123810,essv5103363,essv5158330,essv5102443,essv5030891,essv5100216,essv5051474,essv5045711,essv5035576,essv5022010,essv5122110,essv5106770,essv5085690,essv5155645,essv5083955,essv5151884,essv5130085,essv5082662,essv5146683,essv5032135,essv5152169,essv5043753,essv5128935,essv5115020,essv5137134,essv5096895,essv5073617,essv5037513,essv5061555,essv5024673,essv5100453,essv5041483,essv5067080,essv5057315,essv5096573,essv5022329,essv5095451,essv5104364,essv5063185,essv5013745,essv5114798,essv5059299,essv5130395,essv5101571,essv5098267,essv5010940,essv5074978 M 1184 0 535 "" NA06985,NA06991,NA06993,NA06994,NA07000,NA07014,NA07022,NA07029,NA07045,NA07051,NA10830,NA10831,NA10838,NA10839,NA10847,NA10852,NA10853,NA10854,NA10861,NA10863,NA10865,NA11832,NA11840,NA11843,NA11891,NA11918,NA11930,NA11992,NA11993,NA11995,NA12006,NA12045,NA12057,NA12154,NA12155,NA12156,NA12234,NA12239,NA12264,NA12275,NA12336,NA12342,NA12343,NA12347,NA12375,NA12383,NA12386,NA12399,NA12400,NA12716,NA12739,NA12740,NA12748,NA12750,NA12760,NA12763,NA12776,NA12777,NA12801,NA12813,NA12832,NA12842,NA12865,NA12874,NA17965,NA17966,NA17968,NA17969,NA17970,NA17975,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17995,NA17996,NA17997,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18109,NA18112,NA18114,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18129,NA18131,NA18132,NA18133,NA18135,NA18136,NA18138,NA18139,NA18141,NA18143,NA18144,NA18146,NA18148,NA18149,NA18150,NA18152,NA18153,NA18155,NA18156,NA18157,NA18160,NA18161,NA18485,NA18486,NA18487,NA18489,NA18499,NA18506,NA18507,NA18510,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18546,NA18548,NA18552,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18571,NA18572,NA18573,NA18577,NA18579,NA18592,NA18594,NA18599,NA18602,NA18603,NA18608,NA18609,NA18612,NA18613,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18624,NA18626,NA18628,NA18631,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18682,NA18685,NA18696,NA18702,NA18745,NA18747,NA18749,NA18855,NA18861,NA18862,NA18863,NA18867,NA18870,NA18872,NA18917,NA18924,NA18930,NA18933,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18952,NA18955,NA18956,NA18957,NA18959,NA18961,NA18964,NA18965,NA18966,NA18968,NA18969,NA18971,NA18972,NA18973,NA18976,NA18981,NA18987,NA18990,NA18993,NA18994,NA18995,NA18997,NA19001,NA19005,NA19007,NA19009,NA19010,NA19028,NA19038,NA19055,NA19057,NA19058,NA19059,NA19060,NA19062,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19078,NA19079,NA19081,NA19083,NA19084,NA19087,NA19088,NA19093,NA19094,NA19099,NA19101,NA19108,NA19114,NA19119,NA19122,NA19123,NA19131,NA19137,NA19139,NA19140,NA19142,NA19144,NA19149,NA19150,NA19151,NA19152,NA19159,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19190,NA19191,NA19193,NA19200,NA19201,NA19207,NA19214,NA19222,NA19239,NA19247,NA19248,NA19249,NA19257,NA19258,NA19308,NA19316,NA19318,NA19327,NA19332,NA19352,NA19372,NA19380,NA19385,NA19391,NA19429,NA19438,NA19445,NA19448,NA19451,NA19463,NA19649,NA19651,NA19652,NA19653,NA19656,NA19658,NA19659,NA19661,NA19664,NA19665,NA19676,NA19677,NA19679,NA19681,NA19682,NA19683,NA19684,NA19700,NA19702,NA19703,NA19705,NA19708,NA19713,NA19714,NA19716,NA19722,NA19723,NA19724,NA19726,NA19727,NA19746,NA19747,NA19750,NA19751,NA19759,NA19760,NA19762,NA19770,NA19771,NA19772,NA19773,NA19774,NA19777,NA19778,NA19779,NA19780,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19795,NA19796,NA19818,NA19834,NA19836,NA19904,NA19909,NA19916,NA19918,NA19919,NA19982,NA19983,NA19985,NA20127,NA20128,NA20287,NA20288,NA20292,NA20294,NA20297,NA20300,NA20332,NA20333,NA20340,NA20341,NA20344,NA20356,NA20502,NA20506,NA20509,NA20517,NA20520,NA20521,NA20525,NA20527,NA20534,NA20535,NA20540,NA20581,NA20582,NA20586,NA20589,NA20752,NA20754,NA20755,NA20761,NA20765,NA20766,NA20768,NA20773,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20799,NA20802,NA20804,NA20805,NA20807,NA20810,NA20811,NA20812,NA20815,NA20828,NA20846,NA20849,NA20854,NA20856,NA20861,NA20866,NA20869,NA20872,NA20875,NA20877,NA20883,NA20891,NA20892,NA20894,NA20895,NA20897,NA20898,NA20906,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21100,NA21101,NA21102,NA21103,NA21105,NA21109,NA21111,NA21112,NA21137,NA21295,NA21297,NA21300,NA21301,NA21311,NA21314,NA21320,NA21344,NA21353,NA21360,NA21361,NA21362,NA21366,NA21368,NA21371,NA21379,NA21382,NA21383,NA21385,NA21386,NA21390,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21414,NA21417,NA21420,NA21421,NA21423,NA21425,NA21436,NA21438,NA21439,NA21451,NA21475,NA21476,NA21478,NA21489,NA21510,NA21520,NA21524,NA21529,NA21573,NA21574,NA21575,NA21577,NA21578,NA21582,NA21583,NA21600,NA21601,NA21613,NA21617,NA21620,NA21634,NA21636,NA21650,NA21723,NA21733,NA21741 nsv442733 16 86671164 86672892 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514822 16 86671168 86672920 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628274 S 1414 0 0 "" nsv1922 16 86691220 86775252 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7293,nssv7292 M 9 0 1 "" NA12156 dgv170n21 16 86712145 86722711 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521617,nsv520234 M 2026 0 2 "" nsv103626 16 86713224 86713428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122204 M 24 "" esv24331 16 86722175 86724907 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14993 S 451 1 0 "" NA18511 esv2237115 16 86722284 86722731 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753616 S 1 0 1 "" NA18507 nsv103452 16 86732640 86732704 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122030 M 24 "" esv25780 16 86737338 86740088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19043 S 451 0 1 "" NA19240 esv1579187 16 86754282 86754411 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204060 S 2 0 1 "" HuRef esv1455242 16 86776201 86776283 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891941 S 2 0 1 "" HuRef nsv103723 16 86776202 86776283 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122301 M 24 "" esv1341009 16 86797977 86798533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856087 S 2 0 1 "" HuRef esv1999130 16 86821505 86821925 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531693 S 1 0 1 "" NA18507 esv22468 16 86821670 86822245 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12217 S 451 1 0 "" NA19114 esv992329 16 86821675 86821796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571028 S 3 0 1 "" HuRef esv1376836 16 86821714 86821836 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259997 S 2 0 1 "" HuRef esv8971 16 86838102 86838499 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31412 S 1 0 1 "" SJK dgv2964n71 16 86846179 86976186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907220,nsv907221 M 6533 0 2 "" MS13770,MS16153 esv25558 16 86867814 86873779 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14853 S 451 0 4 "" NA11995,NA12044,NA12828,NA15510 esv1525367 16 86870335 86870335 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079433 S 2 1 0 "" HuRef esv2236052 16 86874857 86875386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519233 S 1 0 1 "" NA18507 nsv471111 16 86889141 87097884 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545357,nssv545356,nssv545354,nssv545355 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZFPM1,ZNF469 HGDP00288,HGDP00290,HGDP00657,HGDP00883 dgv2965n71 16 86912753 87042687 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907227,nsv907231,nsv907222 M 6533 6 0 ZNF469 IS30210,IS35581,IS37996,IS38232,IS38591,MS21242 nsv528456 16 86912753 87079871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705058 S 2026 0 1 ZFPM1,ZNF469 nsv907223 16 86912753 87082408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537144 S 6533 0 1 ZFPM1,ZNF469 MS13095 dgv2966n71 16 86912753 87155228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907224,nsv907238,nsv907237,nsv907240,nsv907239 M 6533 0 8 ZFPM1,ZNF469 IS31045,IS32322,IS32737,IS33504,IS33684,IS40799,MS17208,MS18276 esv1042740 16 86916267 86916327 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756359 S 2 0 1 "" HuRef esv1005645 16 86916291 86916350 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576573 S 3 0 1 "" HuRef nsv907225 16 86924564 86995308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534458 S 6533 1 0 "" MS11609 nsv907226 16 86924564 87573940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580923 S 6533 0 1 APRT,CBFA2T3,CDT1,CTU2,CYBA,GALNS,IL17C,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,RNF166,SNAI3,TRAPPC2L,ZC3H18,ZFPM1,ZNF469 IS35484 nsv907228 16 86936870 87009615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578791 S 6533 0 1 "" IS34908 dgv2967n71 16 86936870 87022477 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907229,nsv907230 M 6533 2 0 ZNF469 MS14755,MS18466 dgv2968n71 16 86936870 87072758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907234,nsv907232,nsv907233,nsv907236,nsv907235 M 6533 0 10 ZFPM1,ZNF469 IS30369,IS32841,IS33162,IS33178,IS33455,IS34304,IS38293,IS40230,MS11579,MS12262 esv2453257 16 86940662 86941573 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176315 S 1 1 0 "" NA18507 esv4718 16 86974311 86975221 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27159 S 1 0 1 Single Asian sample YH "" YH nsv907241 16 86976186 87010259 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537693 S 6533 1 0 "" MS13293 dgv2969n71 16 86976186 87042687 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907242,nsv907246 M 6533 2 0 ZNF469 IS32999,MS25241 dgv2970n71 16 86976186 87078654 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907249,nsv907244,nsv907243 M 6533 0 3 ZFPM1,ZNF469 IS37172,IS41243,SP54988 dgv171n21 16 86976186 87097884 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521704,nsv528251 M 2026 0 2 ZFPM1,ZNF469 dgv2971n71 16 86976186 87155228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907250,nsv907252,nsv907248,nsv907247,nsv907245 M 6533 0 6 ZFPM1,ZNF469 IS34005,IS41634,MS10311,MS11237,MS11306,MS16153 nsv528168 16 86981260 86985334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704717 S 2026 0 1 "" nsv827827 16 86985791 86986304 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432488 S 31 1 0 "" AK20 dgv921e1 16 86986673 87137417 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3787,essv261,esv56 M 271 0 0 ZFPM1,ZNF469 NA18943,NA18948 esv26144 16 86991019 86993684 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18459 S 451 0 2 "" NA18909,NA19099 nsv9475 16 86991678 86996237 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26612 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 nsv471112 16 86991721 87079871 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545358 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZFPM1,ZNF469 HGDP00566 nsv1923 16 86998919 87002647 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7294 S 9 1 0 "" NA12156 esv26995 16 87003692 87004993 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17222 S 451 0 2 "" NA19108,NA19240 esv996612 16 87005900 87005900 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573958 S 3 1 0 "" HuRef esv1133305 16 87005901 87005901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830400 S 2 1 0 "" HuRef nsv907251 16 87010259 87111708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544311 S 6533 0 1 ZFPM1,ZNF469 MS16315 esv995007 16 87020518 87020518 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566175 S 3 1 0 "" HuRef nsv907253 16 87020736 87053922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510154 S 6533 0 1 ZFPM1,ZNF469 SP54956 dgv2972n71 16 87022477 87064471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907257,nsv907256,nsv907254 M 6533 0 5 ZFPM1,ZNF469 SP54043,SP54657,SP54672,SP54684,SP54967 nsv907255 16 87022477 87399730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592347 S 6533 0 1 CDT1,CTU2,CYBA,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18,ZFPM1,ZNF469 IS39233 nsv827828 16 87033857 87034470 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427307 S 31 1 0 ZNF469 NA18969 nsv827829 16 87033947 87035462 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437080 S 31 1 0 ZNF469 NA18542 dgv2973n71 16 87035640 87064471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907259,nsv907258 M 6533 0 3 ZFPM1 SP54225,SP54593,SP55019 dgv2974n71 16 87042687 87064471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907260,nsv907261 M 6533 0 3 ZFPM1 SP51109,SP54750,SP81010 nsv817747 16 87054324 87082060 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416010 S 112 0 1 ZFPM1 NA12750 nsv103216 16 87055016 87055016 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121794 M 24 ZFPM1 esv272113 16 87056735 87057014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543989,essv2577404,essv2554002,essv2547378,essv2558511,essv2565258,essv2530831,essv2533369,essv2563433 M 157 9 0 Samples from several populations that are part of the HapMap project. ZFPM1 NA07051,NA10847,NA11992,NA12043,NA12287,NA12717,NA12750,NA12812,NA12873 dgv2975n71 16 87064580 87138245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907263,nsv907262 M 6533 0 2 ZFPM1 MS10698,SP54988 esv2335139 16 87086824 87087283 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670511 S 1 0 1 ZFPM1 NA18507 nsv907264 16 87089201 87261769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532492 S 6533 0 1 CYBA,IL17C,MGC23284,MVD,ZC3H18,ZFPM1 MS10769 esv29069 16 87089787 87092046 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15953 S 451 0 1 ZFPM1 NA18907 nsv1924 16 87091936 87109063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1332 S 9 1 0 ZFPM1 NA19240 nsv1925 16 87092258 87137402 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7295 S 9 0 1 ZFPM1 NA12156 dgv2976n71 16 87094017 87131078 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907265,nsv907266 M 6533 0 3 ZFPM1 SP54782,SP55021,SP56223 esv1139853 16 87095016 87095371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033555 S 2 0 1 ZFPM1 HuRef esv26368 16 87095041 87095676 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19659 S 451 11 0 ZFPM1 NA06985,NA11995,NA12004,NA18508,NA18909,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv1407878 16 87095577 87095577 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257798 S 2 1 0 ZFPM1 HuRef nsv907267 16 87098176 87160848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510155 S 6533 0 1 ZFPM1 SP54956 esv33406 16 87110561 87135152 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98505 S 51 1 0 ZFPM1 22352 nsv526557 16 87110740 87161479 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702872 S 2026 0 1 ZFPM1 nsv827830 16 87118978 87119422 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435471 S 31 0 1 ZFPM1 NA18942 esv26997 16 87127315 87128706 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11287 S 451 0 2 ZFPM1 NA07045,NA19129 nsv827832 16 87127387 87129039 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422768 S 31 1 0 ZFPM1 NA18547 nsv512451 16 87139368 87142300 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625047 S 1 0 1 "" 1 nsv511571 16 87139514 87144198 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626197 S 1 1 0 "" 1 esv22311 16 87140762 87141972 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19132,esv15890 M 451 25 0 "" NA06985,NA11894,NA11931,NA12004,NA12006,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA15510,NA18508,NA18523,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv1082360 16 87141396 87141396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985703 S 2 1 0 "" HuRef nsv833325 16 87147647 87292103 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452951,nssv1452953,nssv1452954,nssv1452952 M 95 0 4 CYBA,IL17C,MGC23284,MVD,RNF166,SNAI3,ZC3H18 esv28119 16 87166324 87169584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11988 S 451 0 2 ZC3H18 NA07037,NA12044 nsv523859 16 87195552 87229281 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699694 S 2026 1 0 ZC3H18 nsv907268 16 87213729 87811310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567150 S 6533 0 1 ACSF3,APRT,CBFA2T3,CDH15,CDT1,CTU2,CYBA,GALNS,IL17C,LINC00304,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,RNF166,SLC22A31,SNAI3,TRAPPC2L,ZC3H18 IS31045 dgv2977n71 16 87215936 87334706 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907279,nsv907269,nsv907274,nsv907284 M 6533 0 4 CTU2,CYBA,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18 IS39258,IS39417,MS10123,MS10386 dgv2978n71 16 87215936 87430019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907286,nsv907271,nsv907270,nsv907276,nsv907275,nsv907280 M 6533 0 6 APRT,CDT1,CTU2,CYBA,GALNS,IL17C,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3,ZC3H18 IS33684,IS37646,MS10311,MS13770,MS16153,MS18276 dgv2979n71 16 87215936 87537792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907277,nsv907287,nsv907273,nsv907272 M 6533 0 4 APRT,CBFA2T3,CDT1,CTU2,CYBA,GALNS,IL17C,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,RNF166,SNAI3,TRAPPC2L,ZC3H18 IS32737,IS32841,IS33162,IS38403 nsv907278 16 87218902 87602431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546916 S 6533 0 1 APRT,CBFA2T3,CDT1,CTU2,CYBA,GALNS,IL17C,MGC23284,MIR4722,MVD,PABPN1L,PIEZO1,RNF166,SNAI3,TRAPPC2L,ZC3H18 MS17208 nsv1926 16 87220199 87254453 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2958 S 9 1 0 CYBA,IL17C,MVD,ZC3H18 NA18555 dgv2980n71 16 87230724 87261769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907281,nsv907282 M 6533 0 2 CYBA,IL17C,MGC23284,MVD SP54956,SP54988 nsv907283 16 87240737 87301239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597341 S 6533 0 1 CTU2,CYBA,MGC23284,MVD,RNF166,SNAI3 IS40799 dgv2981n71 16 87240737 87376922 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907285,nsv907295 M 6533 0 2 CTU2,CYBA,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3 IS32322,IS37172 nsv907288 16 87240749 87249039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508879 S 6533 0 1 CYBA,MVD SP54672 nsv471113 16 87244574 87358337 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545359,nssv545361,nssv545362,nssv545360,nssv545363 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTU2,CYBA,MGC23284,MIR4722,MVD,PIEZO1,RNF166,SNAI3 HGDP00298,HGDP00302,HGDP00789,HGDP00883,HGDP01036 nsv833327 16 87261340 87351530 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452962,nssv1452956,nssv1452958,nssv1452967,nssv1452957,nssv1452965,nssv1452961,nssv1452963,nssv1452964,nssv1452968,nssv1452959,nssv1452971,nssv1452970,nssv1452969,nssv1452966,nssv1452960,nssv1452955 M 95 0 17 CTU2,MGC23284,MIR4722,PIEZO1,RNF166,SNAI3 esv2622567 16 87262012 87262479 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351210 S 1 1 0 MGC23284 NA18507 esv1063243 16 87262243 87262243 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269745 S 2 1 0 MGC23284 HuRef esv993602 16 87262702 87265616 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564202 S 3 1 0 MGC23284 HuRef nsv819188 16 87266465 87288783 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418850 S 2 1 0 MGC23284,SNAI3 AK1 dgv2982n71 16 87267489 87308541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907289,nsv907290 M 6533 0 2 CTU2,MGC23284,RNF166,SNAI3 IS33248,MS16315 dgv2983n71 16 87267489 87340615 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907297,nsv907291,nsv907293,nsv907294,nsv907292 M 6533 0 7 CTU2,MGC23284,MIR4722,PIEZO1,RNF166,SNAI3 IS30369,IS34005,IS37985,IS40502,IS41243,MS13727,SP54956 nsv907296 16 87267489 87418527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573925 S 6533 0 1 APRT,CDT1,CTU2,GALNS,MGC23284,MIR4722,PIEZO1,RNF166,SNAI3 IS33504 nsv819380 16 87279743 87280937 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419194 S 2 1 0 MGC23284,SNAI3 AK1 dgv2984n71 16 87282370 87332684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907304,nsv907298,nsv907303 M 6533 0 3 CTU2,MIR4722,PIEZO1,RNF166 IS33601,IS34057,IS38538 nsv471114 16 87282370 87350248 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545366 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTU2,MIR4722,PIEZO1,RNF166 HGDP00462 dgv2985n71 16 87284313 87371934 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907301,nsv907302,nsv907299 M 6533 0 3 CTU2,MIR4722,PIEZO1,RNF166 IS40230,MS10698,SP54988 nsv907300 16 87285340 87332684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564432 S 6533 1 0 CTU2,MIR4722,PIEZO1,RNF166 IS30210 nsv827833 16 87290828 87291302 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437809 S 31 1 0 RNF166 NA18949 nsv907305 16 87297166 87321411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508636 S 6533 0 1 CTU2,MIR4722,PIEZO1,RNF166 SP54725 dgv2986n71 16 87301239 87371934 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907306,nsv907310 M 6533 0 2 CTU2,MIR4722,PIEZO1 IS34304,IS41410 nsv907307 16 87301239 87432301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583609 S 6533 1 0 APRT,CDT1,CTU2,GALNS,MIR4722,PIEZO1 IS36536 dgv2987n71 16 87305496 87358337 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907308,nsv907309 M 6533 0 3 CTU2,MIR4722,PIEZO1 IS33455,MS15835,MS16315 nsv907311 16 87305634 87334487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514304 S 6533 0 1 CTU2,MIR4722,PIEZO1 SP55992 nsv1927 16 87306494 87337492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7296,nssv5621 M 9 2 0 CTU2,MIR4722,PIEZO1 NA12156,NA19129 esv1056304 16 87306834 87306834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926751 S 2 1 0 CTU2 HuRef nsv499595 16 87306856 87307073 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586283 S 9 1 0 CTU2 nsv517643 16 87307676 87350248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692965,nssv687496,nssv691871,nssv665584,nssv669113,nssv675166,nssv664140,nssv677150,nssv672984,nssv663521,nssv660783,nssv668671,nssv683672,nssv669932,nssv691475,nssv677918,nssv652657,nssv688908,nssv681715,nssv690237,nssv673024,nssv689646 M 2026 0 22 CTU2,MIR4722,PIEZO1 esv24222 16 87322197 87323887 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20916 S 451 1 0 PIEZO1 NA18858 esv1041922 16 87322459 87322714 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795857 S 2 0 1 PIEZO1 HuRef nsv907312 16 87323172 87358337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548402 S 6533 0 1 PIEZO1 MS17825 nsv907313 16 87323172 87432301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575588 S 6533 0 1 APRT,CDT1,GALNS,PIEZO1 IS33776 esv998799 16 87325871 87326904 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564742 S 3 1 0 PIEZO1 HuRef dgv2988n71 16 87334839 87418527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907317,nsv907315,nsv907314 M 6533 0 5 APRT,CDT1,GALNS,PIEZO1 IS34235,IS40502,IS40828,MS10769,MS19941 esv29457 16 87335271 87335847 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19620 S 451 3 0 PIEZO1 NA18909,NA18916,NA19108 esv2247831 16 87335449 87335966 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782242 S 1 0 1 PIEZO1 NA18507 nsv907316 16 87343542 87395753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590604 S 6533 0 1 PIEZO1 IS38538 dgv2989n71 16 87349902 87517011 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907318,nsv907319 M 6533 2 0 APRT,CBFA2T3,CDT1,GALNS,PABPN1L,PIEZO1,TRAPPC2L SP56271,SP57689 nsv907320 16 87358337 87454722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537145 S 6533 0 1 APRT,CDT1,GALNS,PIEZO1,TRAPPC2L MS13095 dgv2990n71 16 87358337 87527215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907333,nsv907335,nsv907334,nsv907325,nsv907346,nsv907321 M 6533 0 6 APRT,CBFA2T3,CDT1,GALNS,PABPN1L,PIEZO1,TRAPPC2L IS32888,IS37172,IS41243,MS13727,MS16153,MS16315 dgv37n68 16 87361369 87538812 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833328,nsv833329 M 95 0 16 APRT,CBFA2T3,CDT1,GALNS,PABPN1L,PIEZO1,TRAPPC2L nsv907322 16 87363080 87404930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510158 S 6533 0 1 APRT,CDT1,PIEZO1 SP54956 dgv2991n71 16 87372433 87448994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907327,nsv907328,nsv907323 M 6533 0 4 APRT,CDT1,GALNS,PIEZO1 IS32803,IS33361,IS41634,MS10386 dgv2992n71 16 87372433 87491357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907330,nsv907332,nsv907329,nsv907324,nsv907343,nsv907331,nsv907344,nsv907350,nsv907345 M 6533 0 10 APRT,CBFA2T3,CDT1,GALNS,PABPN1L,PIEZO1,TRAPPC2L IS32322,IS32918,IS33178,IS33239,IS34057,IS38176,IS39258,IS39417,IS40230,MS10311 esv24628 16 87378627 87379707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12100 S 451 0 1 PIEZO1 NA18511 dgv2993n71 16 87383871 87434281 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907338,nsv907326,nsv907339 M 6533 0 5 APRT,CDT1,GALNS IS31656,IS39233,IS41410,MS17522,SP54988 nsv907336 16 87386103 87407981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507863 S 6533 0 1 APRT,CDT1,GALNS SP54725 nsv827834 16 87389360 87391006 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424605 S 31 0 1 "" NA18582 nsv827835 16 87389360 87396562 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435472 S 31 0 1 "" NA18942 esv29296 16 87389488 87390959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18103,esv15203 M 451 0 3 "" NA07037,NA12414,NA12749 nsv512452 16 87389508 87392805 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625048 S 1 0 1 "" 1 nsv827836 16 87390035 87391006 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433289,nssv1437081,nssv1428698,nssv1427113,nssv1430693,nssv1423814,nssv1425368,nssv1430202,nssv1422226,nssv1434035,nssv1422782,nssv1440701,nssv1431692,nssv1436217 M 31 0 14 "" AK10,AK14,AK18,AK2,AK6,NA18526,NA18542,NA18547,NA18564,NA18566,NA18947,NA18972,NA18997,NA18999 nsv511577 16 87390089 87395753 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626204 S 1 0 1 "" 1 dgv2994n71 16 87395753 87406588 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907347,nsv907337 M 6533 0 3 APRT,CDT1 SP50159,SP54043,SP55021 nsv457617 16 87395753 87423638 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534763 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APRT,CDT1,GALNS HGDP00078 dgv2995n71 16 87395753 87448994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907340,nsv907341,nsv907348 M 6533 0 3 APRT,CDT1,GALNS IS34005,IS34908,MS18848 dgv2996n71 16 87395753 87462840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907342,nsv907351,nsv907349 M 6533 0 5 APRT,CDT1,GALNS,PABPN1L,TRAPPC2L IS33605,MS10769,MS15749,MS15835,MS18276 nsv471115 16 87395753 87791351 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545375,nssv545374,nssv545369,nssv545377,nssv545367,nssv545371,nssv545368,nssv545373,nssv545372,nssv545378,nssv545370 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACSF3,APRT,CBFA2T3,CDH15,CDT1,GALNS,LINC00304,PABPN1L,SLC22A31,TRAPPC2L HGDP00288,HGDP00302,HGDP00313,HGDP00315,HGDP00657,HGDP00789,HGDP00883,HGDP00962 nsv528898 16 87399730 87420917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705582 S 2026 0 1 APRT,CDT1,GALNS nsv471117 16 87399730 87432301 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545379 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APRT,CDT1,GALNS HGDP00923 nsv819907 16 87399730 87454722 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418851,nssv1418828 M 2 1 0 APRT,CDT1,GALNS,TRAPPC2L AK1 nsv521217 16 87399730 87768284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697850 S 2026 0 1 ACSF3,APRT,CBFA2T3,CDH15,CDT1,GALNS,LINC00304,PABPN1L,TRAPPC2L nsv907352 16 87418527 87522157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529877 S 6533 0 1 CBFA2T3,GALNS,PABPN1L,TRAPPC2L MS10123 esv29821 16 87418889 87419559 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19683 S 451 0 4 GALNS NA18858,NA18909,NA19108,NA19147 nsv527997 16 87420917 87432301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704522 S 2026 0 1 GALNS esv22725 16 87425113 87425993 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15404 S 451 0 30 GALNS NA07037,NA07045,NA11931,NA11995,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv7598 16 87428351 87428563 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30039 S 1 0 1 GALNS SJK esv1489877 16 87428364 87428364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742208 S 2 1 0 GALNS HuRef dgv2997n71 16 87432301 87594028 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907353,nsv907356,nsv907354 M 6533 0 3 CBFA2T3,GALNS,PABPN1L,TRAPPC2L IS33504,IS39233,MS18276 dgv2998n71 16 87444352 87947857 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907355,nsv907361 M 6533 0 2 ACSF3,ANKRD11,CBFA2T3,CDH15,GALNS,LINC00304,LOC100287036,PABPN1L,SLC22A31,TRAPPC2L,ZNF778 IS37646,MS16153 nsv907357 16 87454722 88279695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530861 S 6533 0 1 ACSF3,ANKRD11,C16orf55,CBFA2T3,CDH15,CHMP1A,CPNE7,DPEP1,LINC00304,LOC100287036,PABPN1L,RPL13,SLC22A31,SNORD68,SPG7,TRAPPC2L,ZNF778 MS10311 nsv907358 16 87455791 87489388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510953 S 6533 0 1 CBFA2T3,PABPN1L SP54988 nsv907359 16 87455791 87543995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510159 S 6533 0 1 CBFA2T3,PABPN1L SP54956 nsv1928 16 87459120 87491186 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5622 S 9 1 0 CBFA2T3,PABPN1L NA19129 dgv507n67 16 87468332 87470880 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827838,nsv827837 M 31 2 0 CBFA2T3 NA18542,NA18969 nsv907360 16 87481845 87811310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538711 S 6533 0 1 ACSF3,CBFA2T3,CDH15,LINC00304,SLC22A31 MS13770 nsv103408 16 87503515 87503515 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121986 M 24 CBFA2T3 nsv907362 16 87523013 87551073 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572899 S 6533 1 0 CBFA2T3 IS33192 esv28032 16 87523318 87524318 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16961 S 451 0 4 CBFA2T3 NA18511,NA18909,NA18916,NA19240 nsv103763 16 87523463 87523534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122341 M 24 CBFA2T3 esv1414625 16 87526161 87526161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817039 S 2 1 0 CBFA2T3 HuRef esv4753 16 87527118 87527834 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27194 S 1 0 1 Single Asian sample YH CBFA2T3 YH nsv827839 16 87542448 87546986 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437083 S 31 1 0 CBFA2T3 NA18542 nsv827840 16 87543356 87545583 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427529 S 31 1 0 CBFA2T3 NA18969 esv1433786 16 87544366 87544434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717749 S 2 0 1 CBFA2T3 HuRef esv2036557 16 87544891 87545331 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616947 S 1 0 1 CBFA2T3 NA18507 nsv512453 16 87547279 87550715 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625049 S 1 0 1 CBFA2T3 1 esv2458116 16 87547965 87550098 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283429 S 1 0 1 CBFA2T3 NA18507 esv2078105 16 87548089 87548471 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539781 S 1 0 1 CBFA2T3 NA18507 esv28973 16 87548204 87549939 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12544 S 451 11 1 CBFA2T3 NA07045,NA12006,NA12287,NA12776,NA12828,NA12878,NA18861,NA19099,NA19114,NA19129,NA19190,NA19225 esv1437918 16 87548592 87548649 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867021 S 2 0 1 CBFA2T3 HuRef esv998118 16 87548664 87549919 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563828 S 3 0 1 CBFA2T3 HuRef esv1211270 16 87549122 87549711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612821 S 2 0 1 CBFA2T3 HuRef esv989499 16 87550879 87550930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578721 S 3 0 1 CBFA2T3 HuRef esv1007500 16 87550896 87550947 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579299 S 3 0 1 CBFA2T3 HuRef esv1293084 16 87550900 87550952 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219358 S 2 0 1 CBFA2T3 HuRef esv1019051 16 87555812 87555960 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094193 S 2 0 1 CBFA2T3 HuRef esv1446888 16 87561077 87561077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587546 S 2 1 0 CBFA2T3 HuRef esv23990 16 87593531 87603436 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18047,esv12970 M 451 6 1 "" NA06985,NA12044,NA12414,NA12776,NA18858,NA19129,NA19240 dgv2999n71 16 87602739 87685048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907363,nsv907365,nsv907364 M 6533 0 8 "" IS38176,MS10123,MS10126,MS11306,MS11467,MS11579,MS11726,MS13727 dgv3000n71 16 87602739 87729306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907367,nsv907366 M 6533 0 4 ACSF3 IS34235,IS34304,MS11237,MS13095 dgv3001n71 16 87602739 87811310 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907386,nsv907371,nsv907377,nsv907368,nsv907375,nsv907369,nsv907376,nsv907385 M 6533 0 9 ACSF3,CDH15,LINC00304,SLC22A31 IS31082,IS32737,IS32841,IS33162,IS41243,IS41634,MS15199,MS15835,MS17208 dgv3002n71 16 87602739 87982807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907380,nsv907378,nsv907379,nsv907370 M 6533 0 4 ACSF3,ANKRD11,CDH15,LINC00304,LOC100287036,SLC22A31,ZNF778 IS33684,IS35484,MS10769,SP54956 esv1008301 16 87611230 87611279 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565864 S 3 0 1 "" HuRef esv25544 16 87622552 87624658 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11758 S 451 1 0 "" NA19129 esv1126961 16 87622893 87623173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356960 S 2 0 1 "" HuRef esv1044868 16 87624068 87624566 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114189 S 2 0 1 "" HuRef dgv3003n71 16 87624266 87710427 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907372,nsv907373,nsv907374,nsv907383,nsv907382 M 6533 0 5 ACSF3 IS30369,IS33178,IS38293,IS39233,SP55992 esv27404 16 87627372 87629243 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19872 S 451 0 1 "" NA19190 nsv907381 16 87638421 87697672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581473 S 6533 1 0 ACSF3 IS35581 nsv907384 16 87638421 87778383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578832 S 6533 1 0 ACSF3,CDH15,LINC00304 IS34912 esv2542986 16 87639607 87640236 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361255 S 1 1 0 "" NA18507 nsv457619 16 87650240 87733984 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534765 S 1557 0 1 ACSF3 NINDS_51 esv992174 16 87660792 87660928 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565858 S 3 0 1 "" HuRef esv1672719 16 87668193 87668385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896155 S 2 0 1 "" HuRef nsv512454 16 87675313 87678867 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625050 S 1 0 1 "" 1 esv27668 16 87677333 87678294 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12049 S 451 0 5 "" NA12044,NA12156,NA18511,NA19099,NA19114 esv1505848 16 87678235 87678235 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996166 S 2 1 0 "" HuRef esv1406729 16 87678267 87678267 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288556 S 2 1 0 "" HuRef nsv457620 16 87685048 87768284 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534766 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACSF3,CDH15,LINC00304 HGDP01346 dgv3004n71 16 87685048 87821115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907388,nsv907387 M 6533 0 2 ACSF3,CDH15,LINC00304,SLC22A31,ZNF778 IS38463,IS41894 nsv519104 16 87694595 87791352 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696580 S 2026 0 1 ACSF3,CDH15,LINC00304,SLC22A31 nsv457621 16 87694595 87811310 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534767 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACSF3,CDH15,LINC00304,SLC22A31 HGDP00696 nsv907389 16 87706274 87788064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549909 S 6533 0 1 ACSF3,CDH15,LINC00304 MS18276 esv5123 16 87711746 87712031 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27564 S 1 0 1 Single Asian sample YH ACSF3 YH nsv103175 16 87711805 87711805 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121753 M 24 ACSF3 esv3286 16 87715802 87716244 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25727 S 1 0 1 Single Asian sample YH ACSF3 YH esv1001300 16 87715900 87716036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583307 S 3 0 1 ACSF3 HuRef esv1504476 16 87716036 87716173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204969 S 2 0 1 ACSF3 HuRef nsv827841 16 87718078 87718828 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424608 S 31 0 1 ACSF3 NA18582 dgv3005n71 16 87729306 87811310 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907392,nsv907390,nsv907393 M 6533 4 4 ACSF3,CDH15,LINC00304,SLC22A31 IS30210,IS32322,IS33504,IS33663,IS34051,IS34304,IS38430,MS16315 nsv524478 16 87733011 87762449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700416 S 2026 0 1 ACSF3,LINC00304 nsv907391 16 87733011 87788064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592350 S 6533 0 1 ACSF3,CDH15,LINC00304 IS39233 nsv907394 16 87739701 87891666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584854 S 6533 0 1 ACSF3,ANKRD11,CDH15,LINC00304,SLC22A31,ZNF778 IS37172 nsv509638 16 87746590 87890112 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619697 S 4 1 0 ACSF3,ANKRD11,CDH15,LINC00304,SLC22A31,ZNF778 NA10860 esv8217 16 87751603 87752077 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30658 S 1 0 1 "" SJK esv1010665 16 87754307 87754374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580515 S 3 0 1 LINC00304 HuRef dgv3006n71 16 87760519 87821115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907395,nsv907396 M 6533 0 2 CDH15,SLC22A31,ZNF778 IS33455,SP54988 esv25612 16 87786425 87787010 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15981 S 451 1 0 CDH15 NA15510 esv1002217 16 87790168 87790248 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584299 S 3 0 1 SLC22A31 HuRef esv1613886 16 87790285 87790366 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272948 S 2 0 1 SLC22A31 HuRef nsv469681 16 87800694 87958839 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649612 M 265 0 0 Samples from several populations that are part of the HapMap project. ANKRD11,LOC100287036,ZNF778 nsv457622 16 87801384 87913062 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534768 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD11,ZNF778 HGDP00885 esv1355426 16 87803310 87803310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833254 S 2 1 0 "" HuRef esv270608 16 87809161 87809246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519371 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 esv1459014 16 87809199 87809199 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856652 S 2 1 0 "" HuRef nsv827843 16 87810511 87892831 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439340 S 31 1 0 ANKRD11,ZNF778 NA18973 nsv428331 16 87810544 88779889 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453290,nssv453277,nssv453281,nssv453283,nssv453282,nssv453278,nssv453284,nssv453279,nssv453285,nssv453280 M 62 9 1 AFG3L1P,ANKRD11,C16orf3,C16orf55,C16orf7,CDK10,CENPBD1,CHMP1A,CPNE7,DBNDD1,DEF8,DPEP1,FANCA,GAS8,LOC100128881,LOC100130015,LOC100287036,MC1R,PRDM7,RPL13,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TUBB3,ZNF276,ZNF778 HGDP00460,HGDP00463,HGDP00467,HGDP01089,HGDP01093,NA18498,NA19096,NA19113,NA19181,NA19189 nsv827844 16 87817209 87820908 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427640 S 31 1 0 ZNF778 NA18969 esv268384 16 87818854 87819190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516748,essv2518600,essv2515098,essv2516328,essv2518066,essv2516081,essv2514443,essv2517324,essv2518981,essv2513690 M 157 10 0 Samples from several populations that are part of the HapMap project. ZNF778 NA07347,NA11881,NA12287,NA12812,NA12814,NA12872,NA12873,NA12874,NA18970,NA19141 esv1006131 16 87823386 87823437 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582979 S 3 0 1 ZNF778 HuRef nsv907397 16 87825453 87877679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586484 S 6533 1 0 ANKRD11 IS37825 esv1777774 16 87826835 87826835 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775954 S 2 1 0 "" HuRef esv1509201 16 87827076 87827145 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998360 S 2 0 1 "" HuRef dgv3007n71 16 87834976 87919816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907398,nsv907400 M 6533 0 3 ANKRD11,LOC100287036 IS33601,IS39233,MS18276 nsv907399 16 87855978 87891666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544315 S 6533 0 1 ANKRD11 MS16315 dgv508n67 16 87877039 87879410 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827845,nsv827846 M 31 2 0 ANKRD11 NA18951,NA18969 nsv103332 16 87884133 87884202 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121910 M 24 ANKRD11 esv1011253 16 87893830 87897416 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564323 S 3 0 1 ANKRD11 HuRef esv1743971 16 87900319 87900319 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947599 S 2 1 0 ANKRD11 HuRef esv998083 16 87917440 87917519 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571917 S 3 0 1 ANKRD11,LOC100287036 HuRef esv1704981 16 87922693 87922693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061490 S 2 1 0 ANKRD11 HuRef esv1728025 16 87935982 87935982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912177 S 2 1 0 ANKRD11 HuRef esv992694 16 87935982 87935985 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576603 S 3 1 0 ANKRD11 HuRef dgv922e1 16 87970408 88179649 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22857,essv16416,essv11868,essv10441,essv18194,essv22680,essv23475,essv5914,essv8778,essv14640,essv15269,essv12548,essv10042,essv12377,essv12279,essv17156,essv12817,essv21799,essv8242,essv7841,essv21287,essv16654,essv19776,essv19660,essv16051,essv4898,essv9918,essv18600,essv7143,essv10894,essv21229,essv19424,esv154,essv13856,essv17332,essv11168,essv23258,essv9138,essv14049,essv24832,essv15863,essv15301,essv6872,essv18763,essv17891,essv8104,essv13545,essv2023,essv4141,essv18435,essv16229,essv3523,essv17269,essv16963,essv4788,essv24718,essv15481,essv10583,essv14786 M 271 0 0 ANKRD11,CPNE7,RPL13,SNORD68,SPG7 NA07000,NA07029,NA07034,NA10835,NA10855,NA11829,NA11830,NA11831,NA11840,NA12003,NA12057,NA12234,NA12239,NA12264,NA12752,NA12760,NA12874,NA18501,NA18503,NA18505,NA18515,NA18547,NA18550,NA18555,NA18558,NA18561,NA18605,NA18620,NA18854,NA18856,NA18860,NA18861,NA18862,NA18949,NA18965,NA19092,NA19093,NA19094,NA19098,NA19099,NA19101,NA19116,NA19120,NA19139,NA19142,NA19144,NA19145,NA19159,NA19160,NA19161,NA19171,NA19206,NA19209,NA19211,NA19221,NA19223,NA19238,NA19240 esv1752819 16 87983997 87983997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925584 S 2 1 0 ANKRD11 HuRef nsv907401 16 87984851 88040735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577931 S 6533 1 0 ANKRD11 IS34599 esv2283815 16 87992025 87992540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651886 S 1 0 1 ANKRD11 NA18507 esv1067384 16 87992283 87992283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018228 S 2 1 0 ANKRD11 HuRef esv1771804 16 87994451 87994641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192282 S 2 0 1 ANKRD11 HuRef nsv9476 16 87996062 87999600 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26539 S 31 0 1 Samples from several populations that are part of the HapMap project. ANKRD11 NA18972 esv2499318 16 88014880 88016433 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341633 S 1 0 1 ANKRD11 NA18507 esv1506985 16 88015174 88015324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763769 S 2 0 1 ANKRD11 HuRef esv26174 16 88021338 88024455 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13353,esv12521 M 451 16 0 ANKRD11 NA07045,NA12044,NA12239,NA12287,NA12414,NA12828,NA12878,NA18502,NA18505,NA18511,NA18517,NA18861,NA19099,NA19108,NA19147,NA19240 esv2631884 16 88022531 88024793 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240835 S 1 0 1 ANKRD11 NA18507 nsv512455 16 88022794 88025700 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625051 S 1 0 1 ANKRD11 1 nsv103540 16 88023000 88023167 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122118 M 24 ANKRD11 esv994831 16 88023081 88023794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566841 S 3 0 1 ANKRD11 HuRef nsv471118 16 88040735 88194838 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545380 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD11,CPNE7,RPL13,SNORD68,SPG7 HGDP00461 esv1451902 16 88048805 88048871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091058 S 2 0 1 ANKRD11 HuRef nsv907402 16 88051809 88117744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510161 S 6533 0 1 ANKRD11,SPG7 SP54956 nsv907403 16 88072257 88111039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511526 S 6533 0 1 ANKRD11,SPG7 SP55021 nsv907404 16 88072257 88151280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592833,nssv1579927 M 6533 0 2 ANKRD11,SPG7 IS35189,IS39258 nsv907405 16 88072257 88192509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570813,nssv1599140,nssv1597999,nssv1576751,nssv1565213 M 6533 0 5 ANKRD11,CPNE7,RPL13,SNORD68,SPG7 IS30369,IS32322,IS34235,IS41243,IS41410 dgv3008n71 16 88072257 88339703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907406,nsv907407,nsv907415,nsv907408 M 6533 0 5 ANKRD11,C16orf55,C16orf7,CDK10,CHMP1A,CPNE7,DPEP1,FANCA,LOC100128881,RPL13,SNORD68,SPATA2L,SPG7,ZNF276 IS31045,IS33178,IS35484,MS16153,MS18276 dgv3009n71 16 88072257 88651233 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907416,nsv907409,nsv907413 M 6533 0 3 AFG3L1P,ANKRD11,C16orf3,C16orf55,C16orf7,CDK10,CENPBD1,CHMP1A,CPNE7,DBNDD1,DEF8,DPEP1,FANCA,GAS8,LOC100128881,LOC100130015,MC1R,PRDM7,RPL13,SNORD68,SPATA2L,SPG7,SPIRE2,TCF25,TUBB3,ZNF276 IS33504,IS37646,MS17208 nsv512456 16 88090264 88095308 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625052 S 1 0 1 "" 1 esv33933 16 88091927 88094569 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96789,essv94789 M 51 0 2 "" 21659,21791 esv2263813 16 88096971 88097875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895548 S 1 0 1 "" NA18507 nsv509639 16 88107447 88369824 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619698 S 4 1 0 C16orf55,C16orf7,CDK10,CHMP1A,CPNE7,DPEP1,FANCA,LOC100128881,RPL13,SNORD68,SPATA2L,SPG7,ZNF276 NA10860 dgv3010n71 16 88115372 88219799 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907411,nsv907414,nsv907418,nsv907410 M 6533 0 5 CPNE7,DPEP1,RPL13,SNORD68,SPG7 IS32737,IS37172,IS39233,IS40230,MS16315 dgv3011n71 16 88126505 88192509 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907417,nsv907412 M 6533 0 3 CPNE7,RPL13,SNORD68,SPG7 IS32841,IS38176,SP54956 esv1246626 16 88135090 88135139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748455 S 2 0 1 SPG7 HuRef esv994856 16 88160114 88160114 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574650 S 3 1 0 RPL13 HuRef nsv9477 16 88163792 88202556 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26791,nssv22072,nssv26625,nssv25268,nssv24149,nssv23837,nssv23285,nssv26749,nssv22770,nssv28131,nssv22685,nssv24175,nssv25927 M 31 11 1 Samples from several populations that are part of the HapMap project. CPNE7 NA07029,NA07048,NA10863,NA12155,NA12740,NA18502,NA18504,NA18517,NA18942,NA18980,NA19132,NA19221 esv27493 16 88164553 88165319 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20194 S 451 5 0 "" NA07045,NA12004,NA12414,NA18858,NA18861 esv1000486 16 88173063 88174214 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563511 S 3 0 1 CPNE7 HuRef esv24151 16 88173379 88175204 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10626 S 451 1 0 CPNE7 NA19099 esv2157132 16 88173550 88174280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952442 S 1 0 1 CPNE7 NA18507 nsv103622 16 88173623 88174049 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122200 M 24 CPNE7 esv988408 16 88173731 88174158 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568380 S 3 0 1 CPNE7 HuRef esv1076593 16 88173737 88174165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077513 S 2 0 1 CPNE7 HuRef nsv827847 16 88177312 88181693 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422794 S 31 1 0 CPNE7 NA18547 esv2248730 16 88181445 88181908 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570958 S 1 0 1 CPNE7 NA18507 esv33444 16 88181462 88187850 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98916 S 51 1 0 CPNE7 21606 esv24414 16 88181482 88182112 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17665 S 451 1 0 CPNE7 NA18508 esv1046929 16 88181984 88181984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210967 S 2 1 0 CPNE7 HuRef esv1215908 16 88182004 88182004 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105136 S 2 1 0 CPNE7 HuRef nsv1929 16 88195590 88222426 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5624 S 9 1 0 DPEP1 NA19129 esv1762145 16 88197948 88197948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732967 S 2 1 0 "" HuRef nsv103438 16 88207742 88207796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv122016 M 24 DPEP1 nsv907419 16 88208369 88240390 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511999 S 6533 1 0 CHMP1A,DPEP1 SP55223 esv1242032 16 88211639 88211639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824736 S 2 1 0 DPEP1 HuRef esv24216 16 88212741 88213871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11629 S 451 0 1 DPEP1 NA07037 esv1355826 16 88213416 88213416 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297636 S 2 1 0 DPEP1 HuRef nsv907420 16 88219799 88322986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573225,nssv1575159 M 6533 0 2 C16orf55,C16orf7,CDK10,CHMP1A,DPEP1,LOC100128881,SPATA2L,ZNF276 IS33248,IS33684 nsv907421 16 88220600 88240390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510955 S 6533 0 1 CHMP1A,DPEP1 SP54988 esv7562 16 88227689 88227745 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30003 S 1 1 0 DPEP1 SJK nsv1930 16 88227785 88234659 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4238 S 9 1 0 DPEP1 NA12878 esv1551473 16 88232849 88233110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945045 S 2 0 1 "" HuRef esv1439372 16 88233125 88233311 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351344 S 2 0 1 "" HuRef esv26093 16 88241421 88242346 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15021 S 451 6 2 CHMP1A NA12006,NA12239,NA12878,NA15510,NA18517,NA18861,NA18909,NA19257 esv1520837 16 88241469 88241469 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213286 S 2 1 0 CHMP1A HuRef nsv102951 16 88242736 88242869 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121529 M 24 CHMP1A esv992091 16 88243046 88243110 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581201 S 3 0 1 CHMP1A HuRef nsv457623 16 88258328 88447526 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534769 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C16orf55,C16orf7,CDK10,FANCA,LOC100128881,SPATA2L,SPIRE2,ZNF276 HGDP00629 nsv907422 16 88258686 88288053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517590 S 6533 0 1 C16orf55,CDK10 SP57324 nsv907423 16 88268997 88305262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511527 S 6533 0 1 C16orf7,CDK10,SPATA2L SP55021 nsv907424 16 88268997 88321056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509018 S 6533 0 1 C16orf7,CDK10,LOC100128881,SPATA2L,ZNF276 SP54725 nsv907425 16 88268997 88363824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529550 S 6533 0 1 C16orf7,CDK10,FANCA,LOC100128881,SPATA2L,ZNF276 SP81574 nsv833330 16 88272375 88335692 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1452991,nssv1452988,nssv1452999,nssv1452990,nssv1452989,nssv1452994,nssv1452998,nssv1452993,nssv1452992,nssv1452995,nssv1452997,nssv1452996,nssv1453003,nssv1453002,nssv1453000,nssv1453001 M 95 0 16 C16orf7,CDK10,FANCA,LOC100128881,SPATA2L,ZNF276 dgv3012n71 16 88281756 88321056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907427,nsv907426,nsv907428 M 6533 0 3 C16orf7,CDK10,LOC100128881,SPATA2L,ZNF276 SP51109,SP54956,SP54988 nsv516241 16 88289911 88317399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683166,nssv691476,nssv674088,nssv667000,nssv681078,nssv657073,nssv676855,nssv655933,nssv691980,nssv683279 M 2026 0 10 C16orf7,CDK10,LOC100128881,SPATA2L,ZNF276 nsv907429 16 88290764 88629885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530862 S 6533 0 1 AFG3L1P,C16orf3,C16orf7,CENPBD1,DBNDD1,DEF8,FANCA,GAS8,LOC100128881,MC1R,SPATA2L,SPIRE2,TCF25,TUBB3,ZNF276 MS10311 nsv1931 16 88307558 88340610 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7297 S 9 1 0 C16orf7,FANCA,LOC100128881,ZNF276 NA12156 esv1995159 16 88318816 88319269 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693259 S 1 0 1 ZNF276 NA18507 esv1401930 16 88319493 88319493 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153519 S 2 1 0 ZNF276 HuRef nsv833331 16 88320000 88443715 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453031,nssv1453037,nssv1453019,nssv1453030,nssv1453036,nssv1453033,nssv1453022,nssv1453038,nssv1453041,nssv1453032,nssv1453020,nssv1453039,nssv1453021,nssv1453029,nssv1453028,nssv1453018,nssv1453035,nssv1453023,nssv1453042,nssv1453040,nssv1453034,nssv1453004,nssv1453005,nssv1453009,nssv1453006,nssv1453027,nssv1453016,nssv1453007,nssv1453017,nssv1453008,nssv1453013,nssv1453015,nssv1453024,nssv1453011,nssv1453012,nssv1453010,nssv1453026,nssv1453025,nssv1453014 M 95 38 1 FANCA,SPIRE2,ZNF276 esv25585 16 88326298 88327083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19985 S 451 0 3 ZNF276 NA07037,NA11931,NA12414 nsv907430 16 88328051 88397262 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577193 S 6533 1 0 FANCA,ZNF276 IS34383 nsv457624 16 88332356 88509859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534770 S 1557 0 1 FANCA,SPIRE2,TCF25,ZNF276 NINDS_233 esv28489 16 88339178 88339802 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15771 S 451 0 1 FANCA NA12044 esv4738 16 88339183 88339791 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27179 S 1 0 1 Single Asian sample YH FANCA YH esv1710087 16 88339299 88339565 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341183 S 2 0 1 FANCA HuRef esv1172602 16 88339602 88339678 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850853 S 2 0 1 FANCA HuRef nsv907431 16 88359396 88385436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513157 S 6533 0 1 FANCA SP55692 nsv457625 16 88376981 88403211 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534771 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FANCA HGDP01072 nsv907432 16 88378534 88437537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575260 S 6533 0 1 FANCA,SPIRE2 IS33689 nsv907433 16 88393544 88548362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510164 S 6533 0 1 DEF8,FANCA,MC1R,SPIRE2,TCF25,TUBB3 SP54956 dgv923e1 16 88398233 88495450 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22051,essv20391,esv221,essv23874 M 271 0 0 FANCA,SPIRE2,TCF25 NA10830,NA12154,NA12814 dgv3013n71 16 88403211 88436902 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907436,nsv907435,nsv907434 M 6533 0 3 FANCA,SPIRE2 SP51486,SP55021,SP58462 dgv3014n71 16 88403211 88526295 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907437,nsv907438 M 6533 0 3 FANCA,MC1R,SPIRE2,TCF25,TUBB3 IS32841,IS33684,IS39233 dgv3015n71 16 88403211 88651233 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907440,nsv907439 M 6533 0 2 AFG3L1P,C16orf3,CENPBD1,DBNDD1,DEF8,FANCA,GAS8,LOC100130015,MC1R,PRDM7,SPIRE2,TCF25,TUBB3 IS35484,MS18276 esv993879 16 88420003 88427181 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564390 S 3 0 1 SPIRE2 HuRef nsv9478 16 88423258 88429390 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22714,nssv20675 M 31 0 2 Samples from several populations that are part of the HapMap project. SPIRE2 NA10847,NA10863 esv1005255 16 88423558 88425890 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571605 S 3 0 1 SPIRE2 HuRef esv29066 16 88423599 88425903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20884 S 451 0 3 SPIRE2 NA11995,NA12006,NA12414 dgv63e180 16 88423864 88425944 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991951,esv1007881 M 3 0 1 SPIRE2 HuRef esv32652 16 88424470 88425844 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98323,essv95638,essv97318,essv101628,essv94488,essv92856 M 51 0 6 SPIRE2 21772,21841,21879,21909,21932,21939 esv2501942 16 88436907 88437957 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273745 S 1 1 0 SPIRE2 NA18507 nsv907441 16 88437537 88513655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576957 S 6533 0 1 MC1R,SPIRE2,TCF25 IS34304 esv1071043 16 88437669 88437669 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325049 S 2 1 0 SPIRE2 HuRef esv23219 16 88445958 88446933 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13356,esv19745 M 451 4 2 SPIRE2 NA06985,NA12156,NA19099,NA19190,NA19225,NA19240 nsv9479 16 88472495 88474155 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25293 S 31 1 0 Samples from several populations that are part of the HapMap project. TCF25 NA12155 esv1404867 16 88473528 88473780 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144841 S 2 0 1 TCF25 HuRef nsv907442 16 88481274 88526295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507617 S 6533 0 1 MC1R,TCF25,TUBB3 SP54725 nsv907443 16 88481274 88571529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544317 S 6533 0 1 AFG3L1P,CENPBD1,DEF8,MC1R,TCF25,TUBB3 MS16315 nsv509640 16 88493658 88563706 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619699 S 4 1 0 CENPBD1,DEF8,MC1R,TCF25,TUBB3 NA10860 nsv9481 16 88494483 88496748 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23313 S 31 0 1 Samples from several populations that are part of the HapMap project. TCF25 NA07048 nsv512457 16 88494979 88496687 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625053 S 1 0 1 TCF25 1 esv5359 16 88495278 88496908 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27800 S 1 0 1 Single Asian sample YH TCF25 YH esv1230447 16 88496112 88496584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994595 S 2 0 1 TCF25 HuRef nsv511563 16 88498021 88502997 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626189 S 1 0 1 TCF25 1 nsv526347 16 88499846 88506995 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702639 S 2026 0 1 TCF25 esv24531 16 88501244 88502519 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12959 S 451 1 0 TCF25 NA06985 esv1411513 16 88501567 88501616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733394 S 2 0 1 TCF25 HuRef esv1528431 16 88501617 88501741 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122277 S 2 0 1 TCF25 HuRef nsv519064 16 88506995 88513655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696536 S 2026 0 1 MC1R nsv525671 16 88509859 88526295 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701828 S 2026 0 1 MC1R,TUBB3 nsv907444 16 88512240 88528717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506073 S 6533 0 1 MC1R,TUBB3 SP54043 nsv907445 16 88530183 88629885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584856 S 6533 0 1 AFG3L1P,C16orf3,CENPBD1,DBNDD1,DEF8,GAS8 IS37172 nsv457626 16 88551703 88677423 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534772 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AFG3L1P,C16orf3,CENPBD1,DBNDD1,DEF8,GAS8,LOC100130015,PRDM7 HGDP00460 nsv471119 16 88551703 88677423 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545381 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AFG3L1P,C16orf3,CENPBD1,DBNDD1,DEF8,GAS8,LOC100130015,PRDM7 HGDP00460 nsv471120 16 88571529 88657637 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545382 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AFG3L1P,C16orf3,DBNDD1,GAS8,LOC100130015,PRDM7 HGDP01284 esv2136699 16 88576217 88576643 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508969 S 1 0 1 AFG3L1P NA18507 esv3689 16 88576297 88576524 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26130 S 1 0 1 Single Asian sample YH AFG3L1P YH nsv103116 16 88576334 88576416 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121694 M 24 AFG3L1P nsv103059 16 88576500 88576500 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv121637 M 24 AFG3L1P dgv3016n71 16 88586247 88651233 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907447,nsv907446 M 6533 0 5 AFG3L1P,C16orf3,DBNDD1,GAS8,LOC100130015,PRDM7 IS30369,IS32322,IS33162,IS39233,IS39417 nsv512458 16 88596536 88598572 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625054 S 1 0 1 "" 1 dgv3017n71 16 88596629 88632834 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907449,nsv907448 M 6533 0 2 C16orf3,DBNDD1,GAS8 SP53719,SP54988 esv2126479 16 88597057 88597449 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701543 S 1 0 1 "" NA18507 esv23812 16 88597203 88598526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14792 S 451 0 10 "" NA07045,NA12004,NA12044,NA12414,NA15510,NA18523,NA19108,NA19114,NA19225,NA19240 esv1722182 16 88597238 88597293 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982212 S 2 0 1 "" HuRef esv1590193 16 88597342 88597397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851620 S 2 0 1 "" HuRef esv1535737 16 88597455 88597675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764686 S 2 0 1 "" HuRef esv26767 16 88601726 88602726 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12107 S 451 2 0 DBNDD1 NA18517,NA18861 esv1095561 16 88602099 88602261 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730789 S 2 0 1 DBNDD1 HuRef esv1361959 16 88602381 88602503 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347624 S 2 0 1 DBNDD1 HuRef nsv509641 16 88628603 88714482 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619700 S 4 1 0 GAS8,LOC100130015,PRDM7 NA10860 nsv1933 16 88637496 88648505 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6691 S 9 1 0 GAS8,LOC100130015 NA12156 nsv1934 16 88645830 88682594 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9966 S 9 0 1 PRDM7 NA18507 esv2550224 16 88657784 88664986 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389446 S 1 0 1 PRDM7 NA18507 nsv9482 16 88657900 88667242 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24774,nssv24482 M 31 0 2 Samples from several populations that are part of the HapMap project. PRDM7 NA19144,NA19173 esv1938258 16 88658333 88664804 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970999 S 1 0 1 PRDM7 NA18507 nsv514823 16 88659648 88661392 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628275 S 1414 0 0 PRDM7 esv28486 16 88659694 88664601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10773 S 451 0 1 PRDM7 NA19147 esv24801 16 88689291 88822221 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16256,esv19721,esv15298,esv18516,esv20863,esv20781,esv12816,esv10967,esv21236,esv13386,esv14897 M 451 13 13 "" NA07037,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12776,NA12828,NA15510,NA18502,NA18505,NA18511,NA18517,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19257 nsv9483 16 88689870 88719608 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26760,nssv23353,nssv23865,nssv26802,nssv20809,nssv24508,nssv22773,nssv26638,nssv23160,nssv22703,nssv25318,nssv20705,nssv23864 M 31 4 9 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12155,NA18502,NA18517,NA18563,NA18572,NA18853,NA18975,NA18980,NA19007,NA19132,NA19173 nsv9484 16 88794450 88819185 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23411,nssv24799 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA19144 nsv907450 17 1 69854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592355,nssv1530863 M 6533 0 2 RPH3AL IS39233,MS10311 nsv907451 17 1 113034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546919 S 6533 0 1 RPH3AL MS17208 nsv469538 17 1 116762 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649647 M 265 0 0 Samples from several populations that are part of the HapMap project. RPH3AL nsv907452 17 1 410593 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567429 S 6533 1 0 C17orf97,FAM101B,LOC100506388,RPH3AL,VPS53 IS31081 esv27164 17 41 21799 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10082,esv16521,esv11593,esv21284 M 451 23 0 "" NA07037,NA07045,NA12006,NA12156,NA12239,NA12749,NA12776,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 esv2554624 17 16362 18652 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289387 S 1 0 1 "" NA18507 esv1591929 17 17690 18506 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676461 S 2 0 1 "" HuRef nsv827848 17 28969 62563 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437810,nssv1438483 M 31 2 0 RPH3AL NA18949,NA18951 esv21587 17 30243 31671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11502 S 451 0 2 "" NA11931,NA18511 nsv509642 17 40803 244255 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619701,nssv619703,nssv619702 M 4 1 0 LOC100506388,RPH3AL NA10860 esv22989 17 41135 42666 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13514 S 451 2 16 "" NA07037,NA11995,NA12239,NA12287,NA12414,NA12749,NA15510,NA18511,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19225,NA19240,NA19257 esv1603284 17 42332 42332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971040 S 2 1 0 "" HuRef esv1191668 17 42362 42362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917008 S 2 1 0 "" HuRef esv1371363 17 42412 42412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847519 S 2 1 0 "" HuRef nsv819761 17 48132 48166 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418897 S 2 1 0 "" AK1 esv1200427 17 48385 48385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306352 S 2 1 0 "" HuRef nsv524204 17 51088 58980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700090 S 2026 0 1 "" nsv457627 17 51088 583572 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534773 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf97,FAM101B,FAM57A,LOC100506388,RPH3AL,VPS53 HGDP00796 esv1578801 17 51235 51235 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627122 S 2 1 0 "" HuRef esv23611 17 51239 51734 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17121 S 451 3 0 "" NA07045,NA11993,NA18861 nsv820924 17 51239 51734 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419899 S 1 1 0 "" NA10851 nsv907453 17 53011 123120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563731 S 6533 0 1 RPH3AL IS30054 esv1008917 17 53916 55456 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564680 S 3 1 0 "" HuRef esv2221748 17 56468 56848 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599653 S 1 0 1 "" NA18507 nsv1935 17 57296 62178 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10105,nssv6693 M 9 2 0 "" NA12156,NA18956 esv2185074 17 59641 60200 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809298 S 1 0 1 "" NA18507 nsv907454 17 60532 90429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538712 S 6533 0 1 RPH3AL MS13770 esv2422420 17 60543 963131 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161354 S 181 1 0 ABR,C17orf97,DBIL5P,FAM101B,FAM57A,GEMIN4,GLOD4,LOC100506388,MIR3183,NXN,RNMTL1,RPH3AL,TIMM22,VPS53 ND01666 esv25221 17 66139 71897 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11002,esv16035,esv15491 M 451 21 1 RPH3AL NA06985,NA07037,NA07045,NA11894,NA11931,NA12006,NA12044,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18523,NA18861,NA18909,NA18916,NA19190,NA19225 nsv1936 17 66272 74649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2155,nssv4239 M 9 2 0 RPH3AL NA12878,NA18555 esv2016708 17 66694 67017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783413 S 1 0 1 RPH3AL NA18507 nsv820416 17 66805 68405 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419900 S 1 1 0 RPH3AL NA10851 nsv112249 17 67060 67225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130827 M 24 RPH3AL nsv821266 17 69867 71897 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419901 S 1 0 1 RPH3AL NA10851 dgv26n47 17 69881 71896 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499267,nsv499357 M 9 2 0 RPH3AL nsv112500 17 69927 70151 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131078 M 24 RPH3AL esv1238030 17 70392 71607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173235 S 2 0 1 RPH3AL HuRef esv271538 17 77096 77429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495880,essv2508494 M 157 2 0 Samples from several populations that are part of the HapMap project. RPH3AL NA12489,NA12717 esv23514 17 83652 84147 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12144 S 451 1 0 RPH3AL NA18523 esv24406 17 84932 85782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19047 S 451 0 1 RPH3AL NA18916 esv1001313 17 84982 85752 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586560 S 3 1 0 RPH3AL HuRef esv1506917 17 85337 85337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645518 S 2 1 0 RPH3AL HuRef esv1668100 17 85458 85458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122142 S 2 1 0 RPH3AL HuRef nsv1937 17 86533 124600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1333,nssv5625 M 9 2 0 RPH3AL NA19129,NA19240 nsv519390 17 86802 88988 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680586,nssv687086,nssv655811,nssv698464,nssv693852 M 2026 1 4 RPH3AL esv2613198 17 91121 93647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384446 S 1 0 1 RPH3AL NA18507 nsv820771 17 91610 94094 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419902 S 1 0 1 RPH3AL NA10851 esv25469 17 91976 94094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12820 S 451 0 12 RPH3AL NA07037,NA07045,NA12489,NA12776,NA12828,NA18511,NA18907,NA19114,NA19147,NA19190,NA19225,NA19257 esv1555814 17 92368 92832 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694827 S 2 0 1 RPH3AL HuRef nsv821580 17 103243 107935 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419903 S 1 0 1 RPH3AL NA10851 esv28817 17 103345 107880 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12286 S 451 3 29 RPH3AL NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19225,NA19240 nsv512459 17 103387 107802 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625056 S 1 0 1 RPH3AL 1 esv1006300 17 103396 107860 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586617 S 3 0 1 RPH3AL HuRef esv994991 17 103409 109537 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564768 S 3 0 1 RPH3AL HuRef nsv499514 17 103456 107807 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585607 S 9 1 0 RPH3AL nsv514824 17 103501 107842 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627168 S 1414 0 0 RPH3AL esv3102 17 114025 114462 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25543 S 1 0 1 Single Asian sample YH RPH3AL YH esv1474742 17 114047 114173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227320 S 2 0 1 RPH3AL HuRef esv999265 17 114099 114224 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578592 S 3 0 1 RPH3AL HuRef esv2479428 17 122617 122797 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280719 S 1 1 0 RPH3AL NA18507 esv25604 17 122737 123392 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10059 S 451 36 0 RPH3AL NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv991715 17 122792 123470 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586506 S 3 1 0 RPH3AL HuRef esv1621302 17 123206 123262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213906 S 2 0 1 RPH3AL HuRef esv1074806 17 123271 123383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234370 S 2 0 1 RPH3AL HuRef esv1010573 17 125419 127846 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564553 S 3 1 0 RPH3AL HuRef esv1004648 17 130151 139783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564632 S 3 0 1 RPH3AL HuRef nsv457628 17 135310 218145 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534774 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506388,RPH3AL HGDP00656 esv2627504 17 136349 138954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301502 S 1 0 1 RPH3AL NA18507 esv22684 17 136483 138893 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15478 S 451 16 0 RPH3AL NA06985,NA11894,NA12489,NA12776,NA15510,NA18502,NA18508,NA18517,NA18861,NA18909,NA19099,NA19108,NA19147,NA19190,NA19240,NA19257 nsv820865 17 136483 139728 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419905 S 1 0 1 RPH3AL NA10851 nsv512460 17 136630 138715 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625057 S 1 0 1 RPH3AL 1 esv1654041 17 136737 136737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808795 S 2 1 0 RPH3AL HuRef esv23927 17 143873 146659 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15934 S 451 0 7 RPH3AL NA07037,NA12414,NA18502,NA18916,NA19114,NA19225,NA19240 esv2166716 17 144260 144600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800257 S 1 0 1 RPH3AL NA18507 dgv3018n71 17 146428 225360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907456,nsv907455 M 6533 0 2 LOC100506388,RPH3AL MS10311,MS16153 nsv1938 17 147406 194801 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1334,nssv4240,nssv5627,nssv5626,nssv6694,nssv2156 M 9 5 0 LOC100506388,RPH3AL NA12156,NA12878,NA18555,NA19129,NA19240 esv2172937 17 149650 150140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762714 S 1 0 1 RPH3AL NA18507 esv27547 17 153288 154947 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19446,esv15046 M 451 18 0 RPH3AL NA06985,NA07045,NA11931,NA11993,NA12044,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA18505,NA18523,NA18858,NA18907,NA19114,NA19129,NA19147 esv2124579 17 153508 154085 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736997 S 1 0 1 RPH3AL NA18507 esv2053131 17 154569 155099 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583836 S 1 0 1 RPH3AL NA18507 nsv470565 17 159851 218145 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547438 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506388,RPH3AL HGDP00656 esv1009420 17 161937 178154 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563480 S 3 1 0 RPH3AL HuRef nsv821350 17 163782 167877 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419906 S 1 1 0 RPH3AL NA10851 esv22207 17 163907 167472 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19295 S 451 7 6 RPH3AL NA11993,NA12044,NA12156,NA12287,NA12414,NA18505,NA18508,NA18523,NA18907,NA18909,NA19114,NA19225,NA19240 esv1599430 17 164471 164471 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327145 S 2 1 0 RPH3AL HuRef esv1606158 17 164681 164681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603211 S 2 1 0 RPH3AL HuRef esv1146785 17 164836 164836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632186 S 2 1 0 RPH3AL HuRef esv1449608 17 165459 165459 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726872 S 2 1 0 RPH3AL HuRef nsv827849 17 182185 295850 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427862 S 31 1 0 C17orf97,FAM101B,LOC100506388,RPH3AL NA18969 esv1009337 17 182929 182990 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579000 S 3 0 1 LOC100506388,RPH3AL HuRef esv1535633 17 182989 183051 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796445 S 2 0 1 LOC100506388,RPH3AL HuRef esv33635 17 184117 193065 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98910,essv100833,essv94041 M 51 3 0 RPH3AL 21606,21656,21802 esv5092 17 184190 184800 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27533 S 1 0 1 Single Asian sample YH RPH3AL YH esv2397778 17 184210 184546 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499609 S 1 0 1 RPH3AL NA18507 esv1000357 17 185813 185874 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580296 S 3 0 1 RPH3AL HuRef esv1355549 17 185813 185875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350347 S 2 0 1 RPH3AL HuRef esv999394 17 190182 197894 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564096 S 3 0 1 RPH3AL HuRef esv1650535 17 190739 190739 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291035 S 2 1 0 RPH3AL HuRef nsv827850 17 192961 198407 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434745,nssv1427895,nssv1430705,nssv1427115,nssv1428699,nssv1422227,nssv1425369,nssv1435473,nssv1430203,nssv1434036,nssv1426184,nssv1430965,nssv1422806,nssv1432489,nssv1424609,nssv1440011,nssv1436218,nssv1431693,nssv1440702,nssv1438484 M 31 0 20 RPH3AL AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18951,NA18997 esv2183072 17 193539 193987 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910676 S 1 0 1 RPH3AL NA18507 nsv820496 17 193606 196741 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419907 S 1 0 1 RPH3AL NA10851 esv29007 17 193696 196741 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12776,esv13950,esv13847 M 451 27 4 RPH3AL NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1673020 17 194226 194452 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742963 S 2 0 1 RPH3AL HuRef nsv827851 17 194464 195945 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437811,nssv1422999 M 31 0 2 RPH3AL NA18552,NA18949 esv33596 17 194692 198788 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97490,essv96794,essv95071,essv98243,essv94679,essv94089,essv94437,essv97004,essv95551,essv95387,essv94500,essv92961,essv92771,essv93773,essv99637,essv94994,essv92527,essv96483,essv99272,essv97664,essv100579,essv100317,essv98363,essv96392 M 51 0 24 RPH3AL 21616,21659,21721,21772,21791,21802,21808,21817,21847,21872,21932,21939,21944,21972,22217,22231,22233,22261,22275,22278,22298,22300,22352,22371 esv1011190 17 203310 203310 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576480 S 3 1 0 "" HuRef esv1118111 17 203332 203332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249084 S 2 1 0 "" HuRef esv1003782 17 204454 207487 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564456 S 3 1 0 "" HuRef esv9193 17 205428 206411 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31634 S 1 0 1 "" SJK nsv820993 17 205453 206483 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419908 S 1 0 1 "" NA10851 esv24831 17 205453 210881 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10532,esv16302 M 451 27 0 "" NA06985,NA07037,NA11931,NA12004,NA12156,NA12287,NA12414,NA12828,NA15510,NA18502,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv512461 17 210168 213781 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625058 S 1 0 1 "" 1 esv2094155 17 210396 210968 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726270 S 1 0 1 "" NA18507 esv4967 17 210451 211001 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27408 S 1 0 1 Single Asian sample YH "" YH esv1547251 17 210497 210839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984200 S 2 0 1 "" HuRef esv999081 17 210504 210845 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580334 S 3 0 1 "" HuRef esv1621067 17 211899 211899 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202349 S 2 1 0 "" HuRef esv1312789 17 213277 213599 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673702 S 2 0 1 "" HuRef nsv1939 17 214574 218243 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10106 S 9 1 0 "" NA18956 esv2267073 17 215647 216333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595216 S 1 0 1 "" NA18507 esv2571027 17 216796 218306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216462 S 1 0 1 "" NA18507 esv24949 17 225231 225761 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15808 S 451 0 1 "" NA19108 esv1572522 17 225393 225446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873952 S 2 0 1 "" HuRef nsv511590 17 228978 238193 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626218 S 1 0 1 "" 1 esv2372595 17 229913 230474 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853934 S 1 0 1 "" NA18507 esv24416 17 230166 231311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16690 S 451 0 1 "" NA19108 esv990409 17 237210 237210 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578541 S 3 1 0 "" HuRef esv1074848 17 237264 237264 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018649 S 2 1 0 "" HuRef esv2250289 17 247665 248014 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968410 S 1 0 1 "" NA18507 nsv821466 17 252611 254500 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419909 S 1 0 1 "" NA10851 esv27375 17 252611 254911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11433 S 451 0 14 "" NA07045,NA11993,NA18508,NA18511,NA18517,NA18523,NA18861,NA18916,NA19099,NA19108,NA19114,NA19129,NA19225,NA19240 esv1360042 17 253481 254583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983982 S 2 0 1 "" HuRef esv998391 17 263934 263993 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572850 S 3 0 1 C17orf97 HuRef esv1210692 17 263967 264027 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979523 S 2 0 1 C17orf97 HuRef nsv522031 17 285508 500830 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694800 S 2026 1 0 FAM101B,VPS53 dgv924e1 17 343377 440727 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv232,essv14622 M 271 0 0 VPS53 NA19093 nsv428332 17 343377 440727 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453296 S 62 0 1 VPS53 NA19189 esv27768 17 353019 357415 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20530 S 451 0 8 "" NA07037,NA12287,NA15510,NA18502,NA18517,NA18523,NA18909,NA18916 esv1464121 17 354102 354172 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718679 S 2 0 1 "" HuRef nsv512462 17 354546 357655 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625059 S 1 0 1 "" 1 esv995347 17 355763 356022 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572448 S 3 0 1 "" HuRef esv1688446 17 355938 356133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907239 S 2 0 1 "" HuRef esv1009562 17 356016 356964 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564506 S 3 0 1 "" HuRef esv1568308 17 356458 356783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307435 S 2 0 1 "" HuRef esv1327710 17 356822 357082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307651 S 2 0 1 "" HuRef esv987867 17 356999 357063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578204 S 3 0 1 "" HuRef esv28623 17 358850 360796 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20148 S 451 5 0 VPS53 NA06985,NA18861,NA19129,NA19147,NA19225 esv2052813 17 359227 359688 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943985 S 1 0 1 VPS53 NA18507 esv1004113 17 359415 359481 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585586 S 3 0 1 VPS53 HuRef esv1545947 17 359438 359505 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118458 S 2 0 1 VPS53 HuRef esv1753121 17 360267 360267 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638046 S 2 1 0 VPS53 HuRef esv2540286 17 360430 361382 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213590 S 1 1 0 VPS53 NA18507 esv1159433 17 360445 360445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366110 S 2 1 0 VPS53 HuRef esv1679501 17 360456 360456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781195 S 2 1 0 VPS53 HuRef esv21577 17 363599 364769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12925 S 451 0 2 VPS53 NA18505,NA19099 esv2332044 17 363731 364376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844001 S 1 0 1 VPS53 NA18507 nsv469805 17 373080 560333 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649826 M 265 0 0 Samples from several populations that are part of the HapMap project. VPS53 esv1467116 17 391720 391720 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166921 S 2 1 0 VPS53 HuRef esv1350659 17 398472 398472 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066901 S 2 1 0 VPS53 HuRef esv1749886 17 398502 398502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599271 S 2 1 0 VPS53 HuRef nsv111966 17 398513 398610 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130544 M 24 VPS53 esv2031997 17 402159 402525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691919 S 1 0 1 VPS53 NA18507 esv2630451 17 402618 404070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188865 S 1 0 1 VPS53 NA18507 esv2212170 17 402823 403353 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736774 S 1 0 1 VPS53 NA18507 esv4014 17 402846 403370 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26455 S 1 0 1 Single Asian sample YH VPS53 YH esv997699 17 402906 403165 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577959 S 3 0 1 VPS53 HuRef esv1520334 17 403091 403156 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926628 S 2 0 1 VPS53 HuRef esv1357787 17 403161 403291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280302 S 2 0 1 VPS53 HuRef esv26118 17 425084 446011 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12470 S 451 3 0 VPS53 NA06985,NA12044,NA19129 esv1215226 17 429737 429737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157020 S 2 1 0 VPS53 HuRef esv5641 17 432142 432758 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28082 S 1 0 1 VPS53 SJK nsv9485 17 444399 447066 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24534 S 31 1 0 Samples from several populations that are part of the HapMap project. VPS53 NA19173 esv1335456 17 444887 445533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159054 S 2 0 1 VPS53 HuRef esv24077 17 461422 464183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14878 S 451 0 2 VPS53 NA12828,NA19240 esv1395254 17 468159 468308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205530 S 2 0 1 VPS53 HuRef esv1392031 17 468314 468414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673518 S 2 0 1 VPS53 HuRef esv1712223 17 468982 469770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885642 S 2 0 1 VPS53 HuRef nsv1940 17 475101 506196 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5628 S 9 1 0 VPS53 NA19129 nsv457631 17 483164 725000 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534776 S 1557 1 0 DBIL5P,FAM57A,GEMIN4,GLOD4,NXN,RNMTL1,VPS53 1782681079_A esv27374 17 492375 496922 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17237,esv9921,esv11062 M 451 6 5 VPS53 NA12004,NA12239,NA12287,NA12749,NA12776,NA15510,NA18505,NA18861,NA19108,NA19147,NA19225 esv1330743 17 493109 493577 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134710 S 2 0 1 VPS53 HuRef esv1001912 17 495768 496787 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567961 S 3 0 1 VPS53 HuRef esv1714830 17 495779 496459 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009771 S 2 0 1 VPS53 HuRef esv1490863 17 496480 496820 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686223 S 2 0 1 VPS53 HuRef esv2261698 17 498588 498979 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771792 S 1 0 1 VPS53 NA18507 esv2396313 17 510452 510893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937396 S 1 0 1 VPS53 NA18507 nsv469891 17 513693 687824 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649912 M 265 0 0 Samples from several populations that are part of the HapMap project. DBIL5P,FAM57A,GEMIN4,GLOD4,NXN,RNMTL1,VPS53 dgv925e1 17 568336 880135 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv277,essv2132 M 271 0 0 ABR,DBIL5P,FAM57A,GEMIN4,GLOD4,MIR3183,NXN,RNMTL1,TIMM22 NA18978 esv673 17 568336 1008155 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ABR,DBIL5P,FAM57A,GEMIN4,GLOD4,MIR3183,NXN,RNMTL1,TIMM22 esv1453617 17 572468 572468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215168 S 2 1 0 "" HuRef esv24125 17 581927 583154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15388 S 451 0 1 FAM57A NA18511 esv1005004 17 603160 603250 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570824 S 3 0 1 DBIL5P HuRef nsv907457 17 603425 692488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530865 S 6533 0 1 DBIL5P,GLOD4,NXN,RNMTL1 MS10311 esv2231920 17 605274 605951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933164 S 1 0 1 DBIL5P NA18507 esv2260949 17 617279 617702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827740 S 1 0 1 GLOD4 NA18507 esv23272 17 617401 619115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15120 S 451 0 24 GLOD4 NA07037,NA11931,NA12006,NA12156,NA12287,NA12489,NA12749,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19257 esv1080251 17 618431 618710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179693 S 2 0 1 GLOD4 HuRef nsv907458 17 633311 767074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577942 S 6533 1 0 NXN,RNMTL1 IS34610 esv35056 17 639270 800382 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986560,essv6978207 M 771 1 0 NXN,RNMTL1 NA18978 esv5398 17 640513 641070 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27839 S 1 0 1 Single Asian sample YH RNMTL1 YH esv1058975 17 640633 640800 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253886 S 2 0 1 RNMTL1 HuRef nsv817749 17 642766 797292 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417621 S 112 1 0 NXN NA18978 nsv509643 17 645069 663230 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619704 S 4 1 0 NXN NA10860 nsv907459 17 646770 698753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559492 S 6533 1 0 NXN MS24001 nsv907460 17 647872 842940 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567430 S 6533 1 0 NXN IS31081 nsv9486 17 655962 657896 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26771 S 31 0 1 Samples from several populations that are part of the HapMap project. NXN NA18517 esv24100 17 659844 660329 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16304 S 451 0 1 NXN NA12156 esv1653674 17 660287 660287 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589749 S 2 1 0 NXN HuRef esv1062480 17 660292 660292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139210 S 2 1 0 NXN HuRef esv1751565 17 660318 660318 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975263 S 2 1 0 NXN HuRef esv990845 17 663921 673602 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565225 S 3 0 1 NXN HuRef dgv172n21 17 666202 856403 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526414,nsv518457 M 2026 2 0 ABR,NXN,TIMM22 esv2652373 17 669946 672324 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183835 S 1 0 1 NXN NA18507 esv1468501 17 670461 670773 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015780 S 2 0 1 NXN HuRef esv26221 17 670962 671412 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14862 S 451 0 6 NXN NA12006,NA12044,NA18858,NA19099,NA19108,NA19129 nsv820321 17 670962 671412 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419910 S 1 0 1 NXN NA10851 nsv457633 17 673882 725000 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534777 S 1557 0 1 NXN NINDS_203 dgv3019n71 17 681349 739867 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907461,nsv907462,nsv907463 M 6533 3 0 NXN IS39680,MS12129,MS17047 esv270880 17 681885 682225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515555,essv2516075,essv2515834,essv2519042,essv2514000 M 157 5 0 Samples from several populations that are part of the HapMap project. NXN NA12815,NA12873,NA18969,NA19141,NA19143 esv2751769 17 682518 953196 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981969,essv6981967,essv6981968 M 771 1 0 ABR,MIR3183,NXN,TIMM22 BEC_51 esv2187086 17 685527 686278 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743536 S 1 0 1 NXN NA18507 nsv112227 17 685675 685807 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130805 M 24 NXN nsv111968 17 685675 686074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130546 M 24 NXN esv1000293 17 685680 686079 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567502 S 3 0 1 NXN HuRef esv1262780 17 685698 686098 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017753 S 2 0 1 NXN HuRef esv2551425 17 691147 691759 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191903 S 1 1 0 NXN NA18507 esv1421971 17 691435 691435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287453 S 2 1 0 NXN HuRef esv3986 17 691454 691737 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26427 S 1 0 1 Single Asian sample YH NXN YH esv1130070 17 691496 691689 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220052 S 2 0 1 NXN HuRef nsv469582 17 707747 851359 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649696 M 265 0 0 Samples from several populations that are part of the HapMap project. NXN,TIMM22 essv3392 17 707754 1008155 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABR,MIR3183,NXN,TIMM22 NA18945 nsv517783 17 710822 725000 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682324,nssv667568,nssv653240 M 2026 3 0 NXN esv1296417 17 714133 714133 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236232 S 2 1 0 NXN HuRef esv1781837 17 741768 741768 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595712 S 2 1 0 NXN HuRef esv2522999 17 743404 745368 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204145 S 1 0 1 NXN NA18507 nsv112186 17 743696 743752 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130764 M 24 NXN esv1098416 17 743840 743984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696101 S 2 0 1 NXN HuRef dgv3020n71 17 744610 779934 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907464,nsv907466 M 6533 2 0 NXN IS39680,MS24001 nsv907465 17 746683 770573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532975 S 6533 0 1 NXN MS10957 nsv512463 17 746856 749933 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625060 S 1 0 1 NXN 1 esv2445764 17 747835 749535 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391758 S 1 0 1 NXN NA18507 esv3732 17 748283 749293 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26173 S 1 0 1 Single Asian sample YH NXN YH nsv112140 17 748377 748972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130718 M 24 NXN nsv907467 17 759500 770573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576166 S 6533 1 0 NXN IS33890 nsv112506 17 764040 764174 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131084 M 24 NXN esv4552 17 764117 764604 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26993 S 1 0 1 Single Asian sample YH NXN YH esv997618 17 764138 764272 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582796 S 3 0 1 NXN HuRef esv1608317 17 764169 764304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257458 S 2 0 1 NXN HuRef nsv112448 17 764265 764399 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131026 M 24 NXN nsv112116 17 765866 765866 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130694 M 24 NXN nsv521627 17 777859 783381 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698246 S 2026 1 0 NXN nsv907468 17 777859 793231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597189 S 6533 0 1 NXN IS40759 nsv907469 17 787555 827941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559494 S 6533 1 0 NXN MS24001 esv29359 17 790619 793236 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19806 S 451 4 10 NXN NA06985,NA07037,NA11894,NA12006,NA12749,NA12776,NA12828,NA15510,NA18909,NA18916,NA19114,NA19190,NA19225,NA19257 esv1228868 17 791322 791436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986904 S 2 0 1 NXN HuRef esv1758019 17 791493 791550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674160 S 2 0 1 NXN HuRef esv1681339 17 791635 792946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270313 S 2 0 1 NXN HuRef dgv3021n71 17 793231 967136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907473,nsv907481,nsv907470 M 6533 0 3 ABR,MIR3183,NXN,TIMM22 IS39233,MS10311,MS16153 dgv3022n71 17 797292 906265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907471,nsv907474 M 6533 0 2 ABR,MIR3183,NXN,TIMM22 IS32841,IS37646 esv24016 17 798851 799881 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14358 S 451 0 3 NXN NA07037,NA18502,NA19240 essv8 17 800382 897708 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABR,MIR3183,NXN,TIMM22 NA18945 nsv827852 17 800813 1119548 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427973 S 31 1 0 ABR,MIR3183,NXN,TIMM22 NA18969 esv1008136 17 802149 802849 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586217 S 3 0 1 NXN HuRef esv27012 17 802204 802849 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15233 S 451 25 3 NXN NA06985,NA07037,NA07045,NA12044,NA12156,NA12287,NA12414,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1316976 17 802523 802523 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122683 S 2 1 0 NXN HuRef nsv907472 17 804007 856776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546920 S 6533 0 1 ABR,NXN,TIMM22 MS17208 dgv3023n71 17 816969 863896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907478,nsv907480,nsv907475 M 6533 0 3 ABR,NXN,TIMM22 IS33669,IS38538,SP54956 dgv3024n71 17 816969 887820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907476,nsv907479,nsv907477 M 6533 0 3 ABR,MIR3183,NXN,TIMM22 IS33684,IS35484,IS40396 esv4422 17 834046 834450 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26863 S 1 0 1 Single Asian sample YH "" YH nsv111703 17 834210 834383 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130281 M 24 "" nsv470566 17 842940 957228 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547443,nssv547442,nssv547441,nssv547440,nssv547439 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABR,MIR3183,TIMM22 HGDP00302,HGDP00546,HGDP00661,HGDP00789,HGDP00825 esv1186665 17 843451 843451 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130012 S 2 1 0 "" HuRef dgv3025n71 17 844055 908650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907482,nsv907488,nsv907490 M 6533 0 3 ABR,MIR3183,TIMM22 IS32322,MS13770,MS18276 dgv3026n71 17 849072 891296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907485,nsv907483,nsv907484,nsv907486 M 6533 0 5 ABR,MIR3183,TIMM22 IS33504,IS34005,IS34057,IS40230,IS41894 nsv907487 17 849072 902426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547515 S 6533 1 0 ABR,MIR3183,TIMM22 MS17414 nsv907489 17 853018 863896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500084 S 6533 0 1 ABR SP50159 nsv524326 17 856403 941485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700232 S 2026 0 1 ABR,MIR3183 esv1325308 17 856796 856861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085233 S 2 0 1 ABR HuRef nsv525233 17 862118 863896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701322 S 2026 0 1 ABR nsv9487 17 863873 868438 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23188 S 31 0 1 Samples from several populations that are part of the HapMap project. ABR NA18853 nsv509644 17 875663 1064447 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619705 S 4 1 0 ABR NA10860 nsv907491 17 877752 933492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546921 S 6533 0 1 ABR MS17208 nsv1941 17 882334 925417 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4241,nssv6695,nssv5629,nssv2959 M 9 4 0 ABR NA12156,NA12878,NA18555,NA19129 esv3625 17 882464 882688 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26066 S 1 0 1 Single Asian sample YH ABR YH esv1621176 17 882635 882635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165265 S 2 1 0 ABR HuRef nsv1942 17 886764 931107 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2157 S 9 0 1 ABR NA18555 nsv111824 17 895437 895488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130402 M 24 ABR nsv511586 17 900487 906036 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626214 S 1 1 0 ABR 1 esv27069 17 902106 915670 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15245,esv19337,esv18988 M 451 24 20 ABR NA06985,NA07037,NA07045,NA11894,NA11931,NA12004,NA12044,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18511,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19257 esv1000862 17 902281 903547 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586443 S 3 1 0 ABR HuRef esv1625487 17 903192 903368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012483 S 2 0 1 ABR HuRef esv2108115 17 904380 904881 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976998 S 1 0 1 ABR NA18507 esv989468 17 904537 904686 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576957 S 3 0 1 ABR HuRef esv1591179 17 904541 904691 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921348 S 2 0 1 ABR HuRef nsv833332 17 907029 997949 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453044,nssv1453043,nssv1453045 M 95 0 3 ABR esv990684 17 910494 915515 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564500 S 3 0 1 ABR HuRef nsv9488 17 911452 915696 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20710,nssv28163,nssv26651,nssv23341,nssv22802,nssv23892,nssv24824,nssv24627,nssv23439,nssv24201,nssv22732,nssv23216,nssv22799 M 31 3 10 Samples from several populations that are part of the HapMap project. ABR NA07029,NA07048,NA10863,NA11830,NA12740,NA12802,NA18563,NA18853,NA18975,NA19007,NA19132,NA19144,NA19221 nsv821454 17 911950 916289 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419911 S 1 1 0 ABR NA10851 esv2620952 17 912098 916069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237205 S 1 0 1 ABR NA18507 esv1006959 17 912189 913298 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569702 S 3 0 1 ABR HuRef esv988982 17 912211 915501 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586256 S 3 0 1 ABR HuRef esv1538715 17 912248 912674 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051985 S 2 0 1 ABR HuRef esv1484555 17 912868 913549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039220 S 2 0 1 ABR HuRef esv996479 17 914023 915523 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573392 S 3 0 1 ABR HuRef esv1222301 17 914059 914571 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093537 S 2 0 1 ABR HuRef esv27906 17 924032 924522 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19191 S 451 1 0 ABR NA18909 nsv833333 17 925649 988412 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453047,nssv1453046,nssv1453048,nssv1453049 M 95 0 4 ABR nsv907492 17 941485 1040869 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586008 S 6533 0 1 ABR IS37646 nsv9489 17 957448 974720 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23919,nssv23552,nssv22132,nssv23765,nssv24849,nssv26583,nssv23467,nssv24073,nssv26664,nssv25978,nssv24227,nssv23399,nssv22828,nssv23891,nssv24653,nssv25583,nssv20770,nssv20765,nssv27113,nssv22831,nssv22791,nssv25343,nssv28165 M 31 23 0 Samples from several populations that are part of the HapMap project. ABR NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA18504,NA18537,NA18563,NA18564,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 nsv820394 17 966366 970071 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419912 S 1 0 1 ABR NA10851 esv23900 17 966376 969981 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13343 S 451 17 0 ABR NA06985,NA07045,NA11894,NA11993,NA11995,NA12156,NA12489,NA12749,NA12878,NA15510,NA18858,NA18907,NA19108,NA19129,NA19225,NA19240,NA19257 esv2405073 17 966905 967768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917284 S 1 0 1 ABR NA18507 nsv512464 17 966987 969417 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625061 S 1 0 1 ABR 1 esv1093276 17 967104 967306 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698091 S 2 0 1 ABR HuRef esv1759998 17 967307 968575 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143482 S 2 0 1 ABR HuRef esv1166537 17 968584 968932 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725388 S 2 0 1 ABR HuRef esv1238522 17 969129 969129 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005598 S 2 1 0 ABR HuRef esv1302409 17 969183 969183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718929 S 2 1 0 ABR HuRef esv1128209 17 969184 969184 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042330 S 2 1 0 ABR HuRef esv1376126 17 969207 969207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686248 S 2 1 0 ABR HuRef esv1006512 17 971505 971636 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581129 S 3 0 1 ABR HuRef esv29732 17 979598 982308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10038,esv13609 M 451 0 2 ABR NA12239,NA12776 esv2536141 17 980766 982623 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381048 S 1 0 1 ABR NA18507 esv1716224 17 981417 981639 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829563 S 2 0 1 ABR HuRef esv1047214 17 981817 981908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276775 S 2 0 1 ABR HuRef esv29084 17 992916 993471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15250 S 451 0 1 ABR NA12749 esv28651 17 1003297 1004032 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11597 S 451 0 2 ABR NA12044,NA19114 nsv111934 17 1003367 1003454 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130512 M 24 ABR esv27568 17 1009241 1009856 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14180 S 451 18 1 ABR NA07045,NA11894,NA11931,NA11995,NA12004,NA12489,NA12749,NA18511,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19129,NA19225,NA19240,NA19257 esv1989797 17 1009547 1009868 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4718553 S 1 0 1 ABR NA18507 esv29687 17 1013512 1014502 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9903 S 451 3 0 ABR NA18508,NA18511,NA18861 esv1217319 17 1014012 1014319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167383 S 2 0 1 ABR HuRef nsv907493 17 1014461 1155912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530867 S 6533 0 1 ABR,BHLHA9,TUSC5 MS10311 nsv907494 17 1015143 1061660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546922 S 6533 0 1 ABR MS17208 esv2436532 17 1022963 1024014 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210498 S 1 1 0 ABR NA18507 esv1186091 17 1023122 1023302 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294472 S 2 0 1 ABR HuRef nsv515593 17 1031081 1039169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660589,nssv664029 M 2026 0 2 ABR nsv517261 17 1044134 1045474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682573,nssv676637,nssv654153 M 2026 0 3 "" nsv907495 17 1045474 1109424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576958 S 6533 0 1 "" IS34304 nsv111697 17 1060424 1060519 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130275 M 24 "" nsv513460 17 1069649 1069826 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625864 S 1 1 0 "" 1 nsv907496 17 1070432 1128916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543710 S 6533 0 1 BHLHA9 MS16153 nsv907497 17 1070432 1155912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586009 S 6533 0 1 BHLHA9,TUSC5 IS37646 nsv512465 17 1091443 1094800 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625062 S 1 0 1 "" 1 esv2433745 17 1092309 1095028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300171 S 1 0 1 "" NA18507 nsv509645 17 1099652 1184634 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619706,nssv623707 M 4 2 0 BHLHA9,TUSC5 NA10860,NA18994 nsv112570 17 1100027 1100278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131148 M 24 "" esv1006971 17 1100056 1100235 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569291 S 3 0 1 "" HuRef nsv112255 17 1100239 1100382 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130833 M 24 "" esv1686298 17 1126830 1126830 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033716 S 2 1 0 "" HuRef esv1777284 17 1139114 1139243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734516 S 2 0 1 TUSC5 HuRef esv6254 17 1143588 1143676 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28695 S 1 1 0 TUSC5 SJK nsv1944 17 1151644 1174715 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5630 S 9 1 0 "" NA19129 nsv519959 17 1156618 1156739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692057,nssv685907,nssv688837,nssv659685,nssv677064,nssv687362 M 2026 0 6 "" nsv821213 17 1157121 1163571 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419913 S 1 0 1 "" NA10851 esv25874 17 1157900 1161931 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12510 S 451 15 11 "" NA07045,NA11995,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 dgv3027n71 17 1180385 1211814 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907499,nsv907498 M 6533 9 0 YWHAE SP50940,SP52661,SP52834,SP54049,SP55509,SP56832,SP56976,SP57472,SP58299 nsv528360 17 1180385 1215433 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704947 S 2026 1 0 YWHAE nsv827854 17 1182037 1207141 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437084 S 31 1 0 YWHAE NA18542 nsv527426 17 1184804 1191742 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703865 S 2026 1 0 "" nsv470567 17 1241236 1313872 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547444 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CRK,YWHAE HGDP00599 nsv833334 17 1261371 1432425 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453050 S 95 0 1 CRK,INPP5K,LOC100306951,MYO1C,PITPNA,SLC43A2 esv1931977 17 1297161 1297608 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703591 S 1 0 1 CRK NA18507 dgv3028n71 17 1299451 1347642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907500,nsv907501 M 6533 0 2 CRK,INPP5K,MYO1C SP54725,SP55021 nsv516805 17 1312497 1337249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671051,nssv688467 M 2026 0 2 MYO1C nsv907502 17 1312497 1587459 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586010 S 6533 0 1 INPP5K,LOC100306951,MIR22,MIR22HG,MYO1C,PITPNA,PRPF8,RILP,SCARF1,SLC43A2,TLCD2,WDR81 IS37646 dgv3029n71 17 1313872 1347642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907503,nsv907505 M 6533 0 2 INPP5K,MYO1C SP54956,SP54988 nsv907504 17 1313872 1380508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530868 S 6533 0 1 INPP5K,LOC100306951,MYO1C,PITPNA MS10311 nsv907506 17 1384084 1452363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528824 S 6533 0 1 PITPNA,SLC43A2 SP81364 nsv112511 17 1399542 1399898 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131089 M 24 PITPNA nsv457635 17 1404589 1488940 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534778 S 1557 1 0 PITPNA,SCARF1,SLC43A2 1780854465_A dgv3030n71 17 1405622 1457008 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907508,nsv907507 M 6533 0 3 PITPNA,SLC43A2 IS39233,MS16153,MS17208 nsv1945 17 1410652 1439096 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1335 S 9 1 0 PITPNA,SLC43A2 NA19240 esv1004030 17 1416640 1424931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564607 S 3 0 1 SLC43A2 HuRef nsv907509 17 1425915 1444322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510167 S 6533 0 1 SLC43A2 SP54956 nsv907510 17 1425915 1464664 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580928 S 6533 0 1 SLC43A2 IS35484 nsv907511 17 1431072 1620026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532495 S 6533 0 1 MIR22,MIR22HG,PRPF8,RILP,SCARF1,SERPINF1,SERPINF2,SLC43A2,TLCD2,WDR81 MS10769 dgv3031n71 17 1434521 1496856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907512,nsv907514 M 6533 0 2 RILP,SCARF1,SLC43A2 IS34304,IS38176 nsv907513 17 1434521 1514439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574137 S 6533 0 1 PRPF8,RILP,SCARF1,SLC43A2 IS33514 nsv527897 17 1457008 1488940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704401 S 2026 0 1 SCARF1,SLC43A2 nsv907515 17 1466525 1588986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592358 S 6533 0 1 MIR22,MIR22HG,PRPF8,RILP,SCARF1,SLC43A2,TLCD2,WDR81 IS39233 dgv3032n71 17 1475073 1503661 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907516,nsv907518 M 6533 0 2 PRPF8,RILP,SCARF1,SLC43A2 SP54956,SP55021 nsv516055 17 1477021 1488940 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677942,nssv679125,nssv688657,nssv661514,nssv693875,nssv663320,nssv654915,nssv672843,nssv688068,nssv679357,nssv657900,nssv696884,nssv655446,nssv688743,nssv682489,nssv665898,nssv685892,nssv661466,nssv658380,nssv684253,nssv699945,nssv674089 M 2026 2 20 SCARF1,SLC43A2 nsv907517 17 1477021 1558949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593429 S 6533 0 1 PRPF8,RILP,SCARF1,SLC43A2,TLCD2 IS39417 nsv827855 17 1486795 1487472 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432490 S 31 0 1 SCARF1 AK20 esv29703 17 1498107 1500758 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16370 S 451 0 1 PRPF8,RILP NA18511 nsv827856 17 1502173 1563779 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439342 S 31 1 0 MIR22HG,PRPF8,TLCD2 NA18973 nsv9490 17 1503472 1679037 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23918 S 31 0 1 Samples from several populations that are part of the HapMap project. MIR22,MIR22HG,PRPF8,SERPINF1,SERPINF2,SMYD4,TLCD2,WDR81 NA18980 nsv512466 17 1547899 1550539 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625063 S 1 0 1 "" 1 nsv470568 17 1558949 1598530 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547447,nssv547446 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR22,MIR22HG,SERPINF2,TLCD2,WDR81 HGDP00313,HGDP00550 nsv516886 17 1558949 1604403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654693,nssv682227,nssv692260,nssv672239,nssv679402 M 2026 0 5 MIR22,MIR22HG,SERPINF2,TLCD2,WDR81 dgv3033n71 17 1558949 1629762 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907519,nsv907520 M 6533 0 2 MIR22,MIR22HG,SERPINF1,SERPINF2,SMYD4,TLCD2,WDR81 MS10311,MS17208 nsv833335 17 1563999 1677888 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453052,nssv1453051 M 95 1 1 MIR22,MIR22HG,SERPINF1,SERPINF2,SMYD4,WDR81 nsv1946 17 1567534 1631614 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7299,nssv1336,nssv10107 M 9 3 0 SERPINF1,SERPINF2,SMYD4,WDR81 NA12156,NA18956,NA19240 nsv512467 17 1588584 1592145 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625064 S 1 0 1 WDR81 1 nsv821357 17 1588816 1592261 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419914 S 1 0 1 "" NA10851 esv999032 17 1588886 1592076 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586671 S 3 1 0 "" HuRef esv22013 17 1588886 1592156 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13729 S 451 24 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA12156,NA12239,NA12414,NA12749,NA12776,NA12878,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv1240953 17 1589409 1591207 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125614 S 2 0 1 "" HuRef esv1419098 17 1591813 1591993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681107 S 2 0 1 "" HuRef nsv907521 17 1595044 1636407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542039 S 6533 1 0 SERPINF1,SERPINF2,SMYD4 MS15601 esv33335 17 1629757 1898716 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93944,essv94004,essv95370,essv96178,essv96617,essv92625,essv96572 M 51 0 7 DPH1,OVCA2,RPA1,RTN4RL1,SMYD4 21634,21802,21872,22007,22011,22233,22261 nsv111745 17 1767925 1768306 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130323 M 24 "" nsv112532 17 1768233 1768319 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131110 M 24 "" nsv907522 17 1771055 1809518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573929 S 6533 0 1 RTN4RL1 IS33504 nsv907523 17 1771055 1928230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530870 S 6533 0 1 DPH1,HIC1,MIR132,MIR212,OVCA2,RTN4RL1,SMG6 MS10311 dgv3034n71 17 1780868 1895351 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907524,nsv907525 M 6533 0 2 DPH1,OVCA2,RTN4RL1 MS17208,MS18276 nsv523761 17 1791269 1831875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699581 S 2026 0 1 RTN4RL1 nsv827857 17 1804068 1910573 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428196 S 31 1 0 DPH1,HIC1,MIR132,MIR212,OVCA2,RTN4RL1,SMG6 NA18969 nsv112398 17 1805397 1805397 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130976 M 24 RTN4RL1 esv2636660 17 1858999 1860927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335884 S 1 0 1 RTN4RL1 NA18507 esv23541 17 1859674 1864144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20649,esv18145 M 451 0 5 RTN4RL1 NA12006,NA12414,NA12828,NA19114,NA19240 esv2272299 17 1863521 1863950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841843 S 1 0 1 RTN4RL1 NA18507 esv21816 17 1873801 1876573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15968 S 451 0 1 RTN4RL1 NA18511 esv23494 17 1884206 1885627 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12659 S 451 0 1 DPH1 NA19108 nsv907526 17 1886293 1909144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502000 S 6533 0 1 DPH1,HIC1,MIR132,MIR212,OVCA2 SP51109 dgv3035n71 17 1893253 1913002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907527,nsv907528 M 6533 0 2 DPH1,HIC1,MIR132,MIR212,OVCA2,SMG6 SP54956,SP55021 esv33884 17 1899588 1900537 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101517,essv95249,essv94625,essv93574,essv93352,essv99273 M 51 6 0 MIR132,MIR212 21603,21872,21932,22128,22170,22275 esv996978 17 1901846 1903286 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563603 S 3 0 1 "" HuRef nsv512468 17 1902390 1903209 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625065 S 1 0 1 "" 1 esv22683 17 1902393 1903513 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17146 S 451 1 4 "" NA07037,NA18508,NA18511,NA19108,NA19240 esv993827 17 1902433 1903113 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586738 S 3 0 1 "" HuRef dgv64e180 17 1902484 1903113 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008278,esv998527 M 3 0 1 "" HuRef esv1489252 17 1902563 1903123 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142383 S 2 0 1 "" HuRef nsv111717 17 1902984 1903123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130295 M 24 "" esv24096 17 1903523 1909314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9794 S 451 0 1 HIC1 NA18511 nsv519347 17 1924612 1928230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696804 S 2026 0 1 SMG6 nsv833336 17 2026966 2250500 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453053 S 95 0 1 MNT,SGSM2,SMG6,SNORD91A,SNORD91B,SRR,TSR1 nsv469765 17 2063199 2250490 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649786 M 265 0 0 Samples from several populations that are part of the HapMap project. MNT,SGSM2,SMG6,SNORD91A,SNORD91B,SRR,TSR1 esv275569 17 2064748 2070384 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585376 S 1250 0 1 SMG6 esv27421 17 2072401 2072978 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20935 S 451 0 2 SMG6 NA12006,NA19108 esv2050174 17 2141479 2142009 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556297 S 1 0 1 SMG6 NA18507 esv3071 17 2141635 2141902 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25512 S 1 0 1 Single Asian sample YH SMG6 YH esv1259463 17 2141686 2141821 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715529 S 2 0 1 SMG6 HuRef esv1317366 17 2154359 2154359 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230086 S 2 1 0 SRR HuRef nsv907529 17 2163008 2264927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547516 S 6533 1 0 LOC284009,MNT,SGSM2,SNORD91A,SNORD91B,SRR,TSR1 MS17414 nsv517489 17 2194732 2245724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674090,nssv652171,nssv696223 M 2026 0 3 MNT,SGSM2 nsv907530 17 2202101 2245724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592359 S 6533 0 1 MNT,SGSM2 IS39233 dgv3036n71 17 2202101 2264927 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907533,nsv907534,nsv907535,nsv907531,nsv907536 M 6533 0 6 LOC284009,MNT,SGSM2 IS32322,IS33504,IS33684,IS38293,MS13770,SP54988 esv27399 17 2204726 2207115 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12394 S 451 6 5 SGSM2 NA11894,NA12776,NA18502,NA18517,NA18523,NA18909,NA18916,NA19099,NA19114,NA19129,NA19257 nsv820502 17 2204726 2207135 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419916 S 1 0 1 SGSM2 NA10851 nsv512469 17 2204884 2207514 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625067 S 1 0 1 SGSM2 1 esv1171750 17 2205086 2205385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967780 S 2 0 1 SGSM2 HuRef nsv907532 17 2206630 2302267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543712 S 6533 0 1 LOC284009,METTL16,MNT,SGSM2 MS16153 nsv470569 17 2209453 2245724 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547448 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MNT,SGSM2 HGDP00825 nsv833338 17 2213651 2442249 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453055,nssv1453054 M 95 0 2 LOC284009,METTL16,MNT,SGSM2 nsv907537 17 2222835 2255867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510170 S 6533 0 1 MNT,SGSM2 SP54956 nsv827858 17 2224189 2224761 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428307 S 31 1 0 SGSM2 NA18969 esv275578 17 2256880 2263282 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585252 S 1250 0 1 LOC284009 nsv112269 17 2258324 2258660 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130847 M 24 LOC284009 nsv819217 17 2266769 2268021 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419216 S 2 0 1 METTL16 AK1 nsv111844 17 2267130 2274164 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130422 M 24 METTL16 nsv907538 17 2273230 2392654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533651 S 6533 0 1 METTL16 MS11249 nsv907539 17 2273230 2414919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547517 S 6533 1 0 METTL16 MS17414 esv22012 17 2346259 2349543 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13048,esv19493 M 451 0 2 METTL16 NA18508,NA19225 nsv525358 17 2375258 2380774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701477 S 2026 1 0 "" nsv817750 17 2375258 2380774 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416279 S 112 1 0 "" NA12057 esv1196631 17 2398361 2398361 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273483 S 2 1 0 "" HuRef nsv112187 17 2406365 2410419 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130765 M 24 "" nsv833339 17 2428808 2619819 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453056,nssv1453057 M 95 0 2 KIAA0664,MIR1253,PAFAH1B1 esv275250 17 2475255 2481460 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585404,essv2585334 M 1250 1 1 PAFAH1B1 nsv516756 17 2482617 2525398 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689971,nssv670647,nssv673653,nssv659332 M 2026 4 0 PAFAH1B1 dgv3037n71 17 2507919 2648748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907541,nsv907540 M 6533 0 2 KIAA0664,MIR1253,PAFAH1B1,RAP1GAP2 IS35484,IS37646 dgv3038n71 17 2537348 2566959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907543,nsv907542,nsv907544 M 6533 0 5 KIAA0664 SP54593,SP54672,SP54725,SP54956,SP54988 nsv907545 17 2540968 2587855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511532 S 6533 0 1 KIAA0664 SP55021 nsv833340 17 2555411 2633546 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453060,nssv1453059,nssv1453058 M 95 1 2 KIAA0664,MIR1253 esv7513 17 2569811 2569901 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29954 S 1 1 0 "" SJK esv1025651 17 2569861 2569861 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172635 S 2 1 0 "" HuRef esv27257 17 2573655 2575655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12270 S 451 0 1 "" NA18511 esv25244 17 2588395 2592091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15778 S 451 0 1 "" NA19225 nsv507830 17 2608995 2614995 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623218,nssv620610 M 4 2 0 "" NA15510,NA18994 nsv907546 17 2646855 2672283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553163,nssv1600538 M 6533 0 2 RAP1GAP2 IS41894,MS19771 esv2425553 17 2666090 2668830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249756 S 1 0 1 RAP1GAP2 NA18507 nsv907547 17 2666280 2725738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543713 S 6533 0 1 RAP1GAP2 MS16153 nsv512470 17 2666649 2668693 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625068 S 1 0 1 RAP1GAP2 1 esv2627871 17 2680946 2681577 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338373 S 1 1 0 RAP1GAP2 NA18507 esv1353865 17 2681397 2681397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808857 S 2 1 0 RAP1GAP2 HuRef nsv112042 17 2736199 2739908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130620 M 24 RAP1GAP2 dgv3039n71 17 2783275 2806774 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907549,nsv907548 M 6533 0 3 RAP1GAP2 IS30097,IS38668,IS39407 esv2573108 17 2849964 2851819 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269641 S 1 0 1 RAP1GAP2 NA18507 esv994444 17 2850049 2850822 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564534 S 3 0 1 RAP1GAP2 HuRef esv29841 17 2850465 2851655 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20100 S 451 11 0 RAP1GAP2 NA07045,NA12156,NA12239,NA12749,NA12776,NA12828,NA18511,NA18517,NA19129,NA19225,NA19257 nsv821347 17 2850465 2851655 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419917 S 1 0 1 RAP1GAP2 NA10851 esv1759238 17 2850626 2850923 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326254 S 2 0 1 RAP1GAP2 HuRef esv1684182 17 2850942 2851338 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612883 S 2 0 1 RAP1GAP2 HuRef esv1118636 17 2851557 2851656 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004583 S 2 0 1 RAP1GAP2 HuRef dgv3040n71 17 2852848 2886189 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907551,nsv907550 M 6533 0 2 RAP1GAP2 IS35484,MS16153 nsv7288 17 2874107 3091249 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9319,nssv5631,nssv4242 M 9 0 0 OR1A1,OR1A2,OR1D2,OR1D4,OR1D5,OR1G1,RAP1GAP2 NA12878,NA18517,NA19129 esv2072081 17 2881142 2881478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700026 S 1 0 1 RAP1GAP2 NA18507 esv24712 17 2881341 2882311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15946 S 451 0 3 RAP1GAP2 NA18907,NA19099,NA19240 nsv821474 17 2881341 2882311 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419918 S 1 1 0 RAP1GAP2 NA10851 esv1294904 17 2881496 2881496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642749 S 2 1 0 RAP1GAP2 HuRef nsv457636 17 2889096 2891528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534779 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00788 nsv907552 17 2900168 2972503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555431 S 6533 0 1 OR1D2,OR1D5 MS21325 esv1006264 17 2921366 2922808 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586374 S 3 1 0 "" HuRef dgv3n29 17 2936687 3106602 CNV Complex Locke et al 2006 16826518 BAC_aCGH nsv469601,nsv469600 M 265 0 0 OR1A1,OR1A2,OR1D2,OR1D4,OR1G1 nsv523342 17 2953235 2966540 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699091 S 2026 1 0 "" nsv515684 17 2956705 2972503 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705396,nssv705539,nssv664382,nssv672985,nssv701064,nssv688171,nssv696986 M 2026 5 2 "" nsv907553 17 2957963 3416603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576147 S 6533 0 1 ASPA,OR1A1,OR1A2,OR1D4,OR1E1,OR1E2,OR1G1,OR3A1,OR3A2,OR3A3,OR3A4,SPATA22,TRPV1,TRPV3 IS33888 nsv469609 17 2965195 3106615 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649533 M 265 0 13 Samples from several populations that are part of the HapMap project. OR1A1,OR1A2,OR1D4,OR1G1 nsv907554 17 2996430 3106246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571326 S 6533 0 1 OR1A1,OR1A2,OR1D4 IS32686 nsv519177 17 3008693 3010402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696660 S 2026 0 1 "" nsv526486 17 3010392 3106246 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702795 S 2026 1 0 OR1A1,OR1A2,OR1D4 nsv907555 17 3011784 3216095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559860 S 6533 0 1 OR1A1,OR1A2,OR1D4,OR3A1,OR3A2,OR3A4 MS24187 nsv907556 17 3034611 3128134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502357 S 6533 1 0 OR1A1,OR1A2,OR1D4,OR3A2 SP51082 nsv457637 17 3048441 3109030 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534780 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR1A1,OR1A2,OR1D4 HGDP01319 nsv907557 17 3048860 3156152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596333 S 6533 0 1 OR1A1,OR1D4,OR3A1,OR3A2 IS40492 nsv507831 17 3085150 3091150 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619179 S 4 1 0 OR1D4 NA10860 dgv3041n71 17 3116208 3160478 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907558,nsv907559 M 6533 2 0 OR3A1,OR3A2,OR3A4 MS11220,MS19649 nsv457638 17 3128134 3161719 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534781 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR3A1,OR3A2,OR3A4 HGDP00544 nsv470570 17 3128134 3167294 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547449 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR3A1,OR3A2,OR3A4 HGDP00544 nsv457639 17 3128134 3194402 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534782 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR3A1,OR3A2,OR3A4 HGDP00540 nsv827859 17 3128264 3142081 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435475 S 31 1 0 OR3A1,OR3A2 NA18942 nsv907560 17 3128923 3160478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560970,nssv1533023,nssv1552374 M 6533 3 0 OR3A1,OR3A2,OR3A4 MS10983,MS19365,MS24783 nsv907561 17 3128923 3194402 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546345,nssv1532936 M 6533 2 0 OR3A1,OR3A2,OR3A4 MS10946,MS17156 nsv907562 17 3129146 3142395 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499935 S 6533 1 0 OR3A1 SP50176 esv2554157 17 3147011 3148441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327828 S 1 0 1 "" NA18507 esv2208996 17 3147293 3147978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498862 S 1 0 1 "" NA18507 esv2187129 17 3156622 3157065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888194 S 1 0 1 "" NA18507 nsv520474 17 3160478 3167294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692801,nssv671709 M 2026 0 2 OR3A4 nsv507832 17 3167189 3173189 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620611,nssv619180,nssv623219 M 4 3 0 "" NA10860,NA15510,NA18994 nsv833341 17 3202287 3371434 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453061 S 95 0 1 ASPA,OR1E1,OR1E2,OR3A3,SPATA22,TRPV3 esv2459419 17 3203634 3214404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245533 S 1 0 1 "" NA18507 nsv436232 17 3203952 3214925 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465584 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv24179 17 3204247 3213571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16201 S 451 0 3 "" NA18505,NA18861,NA19225 esv2562681 17 3205818 3214607 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210124 S 1 0 1 "" NA18507 esv2130389 17 3233821 3234227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771310 S 1 0 1 "" NA18507 esv1003070 17 3233983 3234037 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568997 S 3 0 1 "" HuRef esv1356344 17 3234032 3234087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255379 S 2 0 1 "" HuRef nsv521277 17 3240088 3318929 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691624,nssv692294 M 2026 2 0 OR1E1,OR1E2,OR3A3,SPATA22 nsv528368 17 3309819 3357652 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704955 S 2026 1 0 ASPA,SPATA22 esv1173810 17 3315098 3315312 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921087 S 2 0 1 SPATA22 HuRef nsv525085 17 3336758 3340194 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701143 S 2026 1 0 ASPA esv23898 17 3361508 3362939 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19297 S 451 1 0 "" NA19099 nsv526538 17 3365426 3366274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702852 S 2026 0 1 TRPV3 nsv527923 17 3378436 3409617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704430 S 2026 0 1 TRPV3 nsv526175 17 3378436 3466464 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702436 S 2026 1 0 SHPK,TRPV1,TRPV3 dgv3042n71 17 3393635 3447259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907564,nsv907566,nsv907563 M 6533 0 4 TRPV1,TRPV3 IS38176,IS39233,MS17208,MS18276 esv1041981 17 3394323 3394323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4123534 S 2 1 0 TRPV3 HuRef nsv907565 17 3399068 3551149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530871 S 6533 0 1 CTNS,P2RX5,P2RX5-TAX1BP3,SHPK,TAX1BP3,TMEM93,TRPV1,TRPV3 MS10311 nsv516676 17 3403485 3502173 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685266,nssv682729,nssv663645,nssv670098,nssv662273,nssv684146,nssv697356 M 2026 2 5 CTNS,SHPK,TRPV1,TRPV3 nsv907567 17 3419621 3455629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578179 S 6533 1 0 TRPV1 IS34700 nsv907568 17 3433891 3476315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595851 S 6533 0 1 SHPK,TRPV1 IS40345 esv2639824 17 3449392 3450109 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162084 S 1 1 0 TRPV1 NA18507 dgv358n27 17 3451964 3514210 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457642,nsv457641,nsv457643 M 1557 0 3 CTNS,P2RX5-TAX1BP3,SHPK,TAX1BP3,TRPV1 1780854416_A,1780854495_A,1780862528_A esv997341 17 3468032 3477377 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564069 S 3 0 1 SHPK HuRef nsv833342 17 3476231 3656125 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453064,nssv1453065,nssv1453062,nssv1453063,nssv1453066,nssv1453067 M 95 0 6 CTNS,GSG2,ITGAE,P2RX5,P2RX5-TAX1BP3,SHPK,TAX1BP3,TMEM93 nsv1947 17 3491925 3523885 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5632 S 9 1 0 CTNS,P2RX5,P2RX5-TAX1BP3,TAX1BP3,TMEM93 NA19129 nsv907569 17 3502173 3544767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546927 S 6533 0 1 CTNS,P2RX5,P2RX5-TAX1BP3,TAX1BP3,TMEM93 MS17208 nsv1948 17 3524810 3569522 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7300 S 9 0 1 ITGAE,P2RX5,P2RX5-TAX1BP3 NA12156 esv2094472 17 3529981 3530413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790951 S 1 0 1 P2RX5,P2RX5-TAX1BP3 NA18507 esv1195616 17 3530476 3530546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360399 S 2 0 1 P2RX5,P2RX5-TAX1BP3 HuRef esv22375 17 3535645 3538077 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12908 S 451 6 7 P2RX5,P2RX5-TAX1BP3 NA06985,NA07037,NA11931,NA11995,NA12006,NA12414,NA15510,NA18517,NA18523,NA18861,NA18907,NA19114,NA19129 nsv512471 17 3535653 3538041 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625069 S 1 0 1 P2RX5,P2RX5-TAX1BP3 1 nsv111790 17 3535890 3536026 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130368 M 24 P2RX5,P2RX5-TAX1BP3 esv1604795 17 3536912 3537238 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717858 S 2 0 1 P2RX5,P2RX5-TAX1BP3 HuRef nsv827860 17 3544542 3556824 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427116 S 31 0 1 P2RX5,P2RX5-TAX1BP3 AK6 nsv907570 17 3544767 3769386 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562171 S 6533 1 0 C17orf85,CAMKK1,GSG2,ITGAE,P2RX1,P2RX5,P2RX5-TAX1BP3 MS25412 nsv469791 17 3550803 3735942 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649812 M 265 0 0 Samples from several populations that are part of the HapMap project. C17orf85,CAMKK1,GSG2,ITGAE esv24017 17 3565219 3566272 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14272 S 451 0 1 ITGAE NA19108 nsv907571 17 3587629 3672648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546928 S 6533 0 1 C17orf85,ITGAE MS17208 nsv1949 17 3595073 3627673 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1337 S 9 1 0 ITGAE NA19240 esv996976 17 3608019 3618976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564587 S 3 0 1 ITGAE HuRef esv1004185 17 3638898 3638898 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574727 S 3 1 0 ITGAE HuRef esv1749908 17 3638899 3638899 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3897472 S 2 1 0 ITGAE HuRef nsv833343 17 3672216 3830266 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453075,nssv1453073,nssv1453074,nssv1453070,nssv1453072,nssv1453071,nssv1453069,nssv1453068 M 95 0 8 ATP2A3,C17orf85,CAMKK1,P2RX1 nsv520428 17 3672648 3685739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697412 S 2026 1 0 C17orf85 nsv512472 17 3680938 3682700 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625070 S 1 0 1 C17orf85 1 nsv907572 17 3685739 3740052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570817 S 6533 0 1 C17orf85,CAMKK1 IS32322 dgv3043n71 17 3685739 3784997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907574,nsv907573 M 6533 0 2 ATP2A3,C17orf85,CAMKK1,P2RX1 IS39233,MS10311 dgv3044n71 17 3685739 3857362 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907575,nsv907577,nsv907576 M 6533 0 4 ATP2A3,C17orf85,CAMKK1,P2RX1,ZZEF1 IS37646,MS16153,MS17208,MS18276 nsv526126 17 3710682 3843556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702378 S 2026 0 1 ATP2A3,CAMKK1,P2RX1 nsv907578 17 3716156 3754781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576752 S 6533 0 1 CAMKK1,P2RX1 IS34235 nsv907579 17 3716156 3760416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536583 S 6533 1 0 CAMKK1,P2RX1 MS12856 nsv512473 17 3717561 3720021 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625071 S 1 0 1 CAMKK1 1 nsv820660 17 3717788 3718538 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419919 S 1 0 1 CAMKK1 NA10851 esv2150356 17 3717892 3718461 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685717 S 1 0 1 CAMKK1 NA18507 esv28673 17 3717908 3718538 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15143 S 451 13 0 CAMKK1 NA07037,NA07045,NA12006,NA12749,NA12878,NA18505,NA18517,NA18916,NA19099,NA19129,NA19147,NA19225,NA19257 esv998088 17 3718276 3718473 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583799 S 3 0 1 CAMKK1 HuRef esv1243821 17 3718333 3718491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761369 S 2 0 1 CAMKK1 HuRef esv992121 17 3724679 3731142 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563744 S 3 0 1 CAMKK1 HuRef nsv907580 17 3730621 3768737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572690 S 6533 0 1 CAMKK1,P2RX1 IS33162 nsv524296 17 3740052 3785375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700197 S 2026 0 1 ATP2A3,CAMKK1,P2RX1 nsv521340 17 3740052 3826897 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697948 S 2026 1 0 ATP2A3,CAMKK1,P2RX1 esv2505765 17 3748938 3749467 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334369 S 1 1 0 P2RX1 NA18507 nsv517834 17 3754781 3826897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695238 S 2026 0 1 ATP2A3,P2RX1 dgv3045n71 17 3764358 3863478 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907582,nsv907583,nsv907581 M 6533 0 3 ATP2A3,P2RX1,ZZEF1 IS33504,IS33684,SP54956 nsv470571 17 3775451 3843556 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547450 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2A3 HGDP00697 esv2350557 17 3780058 3780462 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657655 S 1 0 1 ATP2A3 NA18507 esv4315 17 3780142 3780372 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26756 S 1 0 1 Single Asian sample YH ATP2A3 YH esv1001211 17 3780159 3780250 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572754 S 3 0 1 ATP2A3 HuRef esv1309502 17 3780248 3780340 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183510 S 2 0 1 ATP2A3 HuRef nsv907584 17 3787302 3818072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510961,nssv1506074,nssv1511533 M 6533 0 3 ATP2A3 SP54043,SP54988,SP55021 nsv907585 17 3807303 3843556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580931 S 6533 0 1 ATP2A3 IS35484 nsv527732 17 3822378 3824770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704215 S 2026 0 1 "" nsv515807 17 3824141 3824770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657200,nssv652153 M 2026 0 2 "" esv27021 17 3834836 3835551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11440 S 451 0 1 "" NA07037 nsv1950 17 3843845 3878746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1339 S 9 1 0 ZZEF1 NA19240 nsv833344 17 3865103 4055315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453076 S 95 1 0 ANKFY1,CYB5D2,ZZEF1 esv268614 17 3868985 3869982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511878,essv2510771,essv2493658,essv2505882,essv2506990,essv2506416,essv2498720,essv2499664,essv2511972,essv2498184,essv2502260 M 157 11 0 Samples from several populations that are part of the HapMap project. ZZEF1 NA18499,NA18501,NA18517,NA18861,NA19102,NA19108,NA19138,NA19225,NA19238,NA19240,NA19257 esv274362 17 3869005 3869975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579292,essv2579783 M 7 2 0 Samples from several populations that are part of the HapMap project. ZZEF1 NA19239,NA19240 nsv907586 17 3869878 3989011 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562172 S 6533 1 0 ZZEF1 MS25412 nsv907587 17 3908603 3989011 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579600 S 6533 1 0 ZZEF1 IS35142 esv25456 17 3910681 3912221 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12832 S 451 0 1 ZZEF1 NA19129 nsv827861 17 3916722 3917169 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424610 S 31 1 0 ZZEF1 NA18582 esv2391084 17 3936169 3936609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774178 S 1 0 1 ZZEF1 NA18507 esv1422120 17 3940001 3940202 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361041 S 2 0 1 ZZEF1 HuRef esv1786350 17 3940223 3940290 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769023 S 2 0 1 ZZEF1 HuRef nsv457647 17 3952270 4020147 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534786 S 1557 1 0 ANKFY1,CYB5D2,ZZEF1 1782681317_A esv2751682 17 3966715 4036632 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983501,essv6983502 M 771 1 0 ANKFY1,CYB5D2,ZZEF1 BEC_662 nsv827862 17 3974903 3975610 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437812 S 31 0 1 ZZEF1 NA18949 esv1086827 17 3982664 3982664 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288605 S 2 1 0 ZZEF1 HuRef esv989391 17 3988003 3988080 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582678 S 3 0 1 ZZEF1 HuRef esv28297 17 3988918 3989416 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18007 S 451 1 0 ZZEF1 NA18511 dgv173n21 17 3994830 4032583 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522552,nsv526907 M 2026 2 0 ANKFY1,CYB5D2 nsv519311 17 3999315 4012972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696785 S 2026 0 1 CYB5D2 nsv527709 17 4003291 4010483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704189 S 2026 0 1 CYB5D2 esv29231 17 4007244 4008199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21384 S 451 0 2 CYB5D2 NA07037,NA19240 nsv518891 17 4008027 4011278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696350 S 2026 0 1 "" nsv525930 17 4008027 4012972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702135 S 2026 0 1 "" nsv907588 17 4012972 4262255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562173 S 6533 1 0 ANKFY1,UBE2G1 MS25412 esv2471538 17 4041256 4042811 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334320 S 1 0 1 ANKFY1 NA18507 esv25467 17 4041327 4042696 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12708 S 451 0 4 ANKFY1 NA12414,NA12749,NA12828,NA19114 esv1497662 17 4041505 4042152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020247 S 2 0 1 ANKFY1 HuRef esv988491 17 4041678 4042003 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569137 S 3 0 1 ANKFY1 HuRef nsv1951 17 4085757 4118144 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4243 S 9 1 0 ANKFY1 NA12878 dgv509n67 17 4121434 4121914 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827867,nsv827865,nsv827863,nsv827866 M 31 0 8 UBE2G1 AK14,AK8,NA18542,NA18552,NA18949,NA18968,NA18973,NA18997 nsv821134 17 4121434 4121914 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419920 S 1 1 0 UBE2G1 NA10851 nsv515940 17 4127871 4195148 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685730,nssv696385,nssv665389,nssv678272,nssv672176,nssv667379,nssv658147,nssv684421 M 2026 5 3 UBE2G1 dgv3046n71 17 4146069 4328497 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907589,nsv907590,nsv907591 M 6533 5 0 SPNS3,UBE2G1 MS23401,SP54958,SP55456,SP55463,SP57736 nsv907592 17 4151273 4275663 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500055 S 6533 1 0 UBE2G1 SP50593 nsv833345 17 4178539 4358570 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453079,nssv1453078,nssv1453077 M 95 0 3 SPNS2,SPNS3,UBE2G1 esv2563152 17 4233488 4234283 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225423 S 1 1 0 "" NA18507 esv1259495 17 4234123 4234123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239898 S 2 1 0 "" HuRef dgv3047n71 17 4246005 4332252 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907599,nsv907602,nsv907603,nsv907597,nsv907601,nsv907598,nsv907596,nsv907593 M 6533 9 0 SPNS3 IS40544,MS10362,MS20468,SP50700,SP51132,SP52751,SP54434,SP57518,SP81464 esv1306659 17 4261744 4261744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973770 S 2 1 0 "" HuRef dgv3048n71 17 4263227 4307913 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907595,nsv907594 M 6533 2 0 SPNS3 SP52626,SP55295 nsv907600 17 4266355 4322256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595096 S 6533 0 1 SPNS3 IS40105 nsv457650 17 4266355 4329478 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534787 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPNS3 HGDP00813 nsv520005 17 4270043 4274255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703291,nssv679078,nssv704483,nssv702389,nssv660031 M 2026 0 5 "" nsv907604 17 4270085 4332252 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524913,nssv1600539 M 6533 1 1 SPNS3 IS41894,SP55362 nsv907605 17 4278869 4404329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546930 S 6533 0 1 MYBBP1A,SPNS2,SPNS3 MS17208 nsv907606 17 4285713 4337278 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500148 S 6533 1 0 SPNS3 SP50134 esv1095840 17 4308446 4308513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268104 S 2 0 1 SPNS3 HuRef nsv907607 17 4310444 4332252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507053 S 6533 1 0 SPNS3 SP54461 esv2148441 17 4311969 4312878 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887806 S 1 0 1 SPNS3 NA18507 nsv513461 17 4312890 4313019 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625865 S 1 1 0 SPNS3 1 nsv907608 17 4317582 4337278 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499714 S 6533 1 0 SPNS3 SP50593 dgv3049n71 17 4329478 4405539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907610,nsv907609 M 6533 0 2 MYBBP1A,SPNS2,SPNS3 IS32841,IS37646 dgv3050n71 17 4345191 4453303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907612,nsv907611 M 6533 0 3 GGT6,MYBBP1A,SMTNL2,SPNS2 MS10311,MS16153,MS18276 dgv3051n71 17 4360776 4405539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907613,nsv907614 M 6533 0 2 MYBBP1A,SPNS2 IS30197,MS10769 esv1003136 17 4383431 4383883 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587072 S 3 1 0 SPNS2 HuRef nsv907615 17 4412251 4442431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510173 S 6533 0 1 SMTNL2 SP54956 nsv907616 17 4421993 4453303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575164,nssv1546931 M 6533 0 2 SMTNL2 IS33684,MS17208 esv997031 17 4427480 4440698 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565238 S 3 0 1 SMTNL2 HuRef nsv907617 17 4438705 4453303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580932 S 6533 0 1 SMTNL2 IS35484 nsv518749 17 4469916 4479446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696198 S 2026 0 1 "" nsv833346 17 4496300 4710353 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453083,nssv1453082,nssv1453081,nssv1453080 M 95 0 4 ARRB2,CXCL16,GLTPD2,MED11,MINK1,PELP1,PLD2,PSMB6,TM4SF5,VMO1,ZMYND15 nsv519349 17 4496938 4512466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696805 S 2026 0 1 "" esv2328716 17 4564530 4564985 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783028 S 1 0 1 ARRB2 NA18507 esv995819 17 4564641 4564740 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576703 S 3 0 1 ARRB2 HuRef nsv111849 17 4564808 4564907 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130427 M 24 ARRB2 nsv1952 17 4576289 4598933 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5634 S 9 1 0 CXCL16,MED11,ZMYND15 NA19129 nsv907618 17 4596534 4646905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501546 S 6533 0 1 GLTPD2,PSMB6,TM4SF5,VMO1 SP51058 nsv833347 17 4635332 4800000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453086,nssv1453084,nssv1453085 M 95 0 3 C17orf107,CHRNE,ENO3,GLTPD2,GP1BA,MINK1,PFN1,PLD2,PSMB6,RNF167,SLC25A11,VMO1 nsv820043 17 4661032 4664614 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419561 S 2 0 1 PLD2 AK1 esv2537517 17 4702570 4703011 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344597 S 1 1 0 MINK1 NA18507 esv1520671 17 4702877 4702877 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954387 S 2 1 0 MINK1 HuRef nsv833349 17 4703111 4835319 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453088,nssv1453087,nssv1453089 M 95 0 3 C17orf107,CAMTA2,CHRNE,ENO3,GP1BA,INCA1,MINK1,PFN1,RNF167,SLC25A11,SPAG7 nsv1953 17 4710314 4740817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6696,nssv1340,nssv10108,nssv4244,nssv5635,nssv2158 M 9 6 0 MINK1 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv509647 17 4714617 4762745 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623708,nssv621034,nssv619707 M 4 3 0 C17orf107,CHRNE,MINK1 NA10860,NA15510,NA18994 nsv907619 17 4724664 4883900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530874,nssv1546932 M 6533 0 2 C17orf107,CAMTA2,CHRNE,ENO3,GP1BA,GPR172B,INCA1,KIF1C,MINK1,PFN1,RNF167,SLC25A11,SPAG7 MS10311,MS17208 nsv907620 17 4724664 4989129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573932 S 6533 0 1 C17orf107,CAMTA2,CHRNE,ENO3,GP1BA,GPR172B,INCA1,KIF1C,MINK1,PFN1,RNF167,SLC25A11,SPAG7,USP6,ZFP3,ZNF232 IS33504 esv1005973 17 4727379 4727507 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564052 S 3 1 0 MINK1 HuRef nsv833350 17 4728791 4904795 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453090 S 95 0 1 C17orf107,CAMTA2,CHRNE,ENO3,GP1BA,GPR172B,INCA1,KIF1C,MINK1,PFN1,RNF167,SLC25A11,SPAG7 nsv907621 17 4777453 4797089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510174 S 6533 0 1 ENO3,GP1BA,PFN1,RNF167,SLC25A11 SP54956 nsv819218 17 4777459 4778164 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419067 S 2 0 1 GP1BA AK1 nsv907622 17 4861084 4883900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510175 S 6533 0 1 GPR172B,KIF1C SP54956 nsv509648 17 4881245 4935471 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623709,nssv619708 M 4 2 0 ZFP3 NA10860,NA18994 nsv907623 17 4887049 4960392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586014 S 6533 0 1 ZFP3,ZNF232 IS37646 esv998483 17 4899929 4900518 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565259 S 3 1 0 "" HuRef esv1513821 17 4899933 4899933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063935 S 2 1 0 "" HuRef esv1149037 17 4913221 4913221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812214 S 2 1 0 "" HuRef nsv907624 17 4915716 4989129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592362 S 6533 0 1 USP6,ZFP3,ZNF232 IS39233 nsv827868 17 4938282 4941016 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428418 S 31 1 0 ZFP3 NA18969 esv25210 17 4966533 4988881 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13074 S 451 15 0 USP6,ZNF232 NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv112540 17 5021547 5021673 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131118 M 24 "" esv259880 17 5076269 5076573 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395789,essv2395570,essv2399243,essv2396623,essv2396325,essv2398536,essv2395076,essv2398858,essv2400413,essv2398934,essv2400669,essv2398165,essv2394872,essv2399516 M 144 0 0 Samples from several populations that are part of the HapMap project. C17orf87,LOC100130950 NA12004,NA18501,NA18508,NA18526,NA18558,NA18562,NA18571,NA18582,NA18592,NA18603,NA18912,NA18949,NA19114,NA19137 esv6556 17 5076297 5076368 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28997 S 1 1 0 C17orf87,LOC100130950 SJK esv1669585 17 5076419 5076419 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317521 S 2 1 0 C17orf87,LOC100130950 HuRef esv21906 17 5084061 5085351 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20587 S 451 1 0 "" NA19108 esv2078341 17 5084995 5085408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619391 S 1 0 1 "" NA18507 nsv1955 17 5132770 5177353 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2159 S 9 0 1 RABEP1 NA18555 nsv819082 17 5228714 5228990 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419625 S 2 0 1 RABEP1 AK1 nsv819549 17 5230156 5232894 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419474 S 2 0 1 NUP88 AK1 nsv819032 17 5249038 5249718 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419054 S 2 0 1 NUP88 AK1 nsv1956 17 5314504 5353626 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7301 S 9 0 1 DERL2,LOC728392,MIS12,NLRP1 NA12156 nsv528302 17 5326122 5337421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704878 S 2026 0 1 DERL2,MIS12 nsv907625 17 5384295 5517609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554170 S 6533 0 1 NLRP1 MS20630 nsv1957 17 5404002 5415364 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4245 S 9 1 0 NLRP1 NA12878 esv993076 17 5405466 5405789 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566915 S 3 0 1 NLRP1 HuRef esv1271433 17 5405475 5405799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753222 S 2 0 1 NLRP1 HuRef esv2653042 17 5466446 5467167 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289841 S 1 1 0 "" NA18507 nsv513462 17 5466798 5466919 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625866 S 1 1 0 "" 1 esv994459 17 5507428 5517952 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565710 S 3 0 1 "" HuRef esv1001340 17 5527973 5538614 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564241 S 3 0 1 "" HuRef nsv514856 17 5536055 5536440 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627169 S 1414 0 0 "" esv992600 17 5536430 5538223 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581591 S 3 0 1 "" HuRef esv1010681 17 5536463 5537573 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586349 S 3 0 1 "" HuRef esv25977 17 5536463 5538252 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15190 S 451 0 15 "" NA12878,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18907,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19257 esv997765 17 5537121 5537726 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587256 S 3 0 1 "" HuRef nsv514857 17 5537374 5537585 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628276 S 1414 0 1 "" esv23320 17 5566069 5566939 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19864 S 451 4 0 "" NA11894,NA12239,NA18858,NA19147 esv26315 17 5594539 5596269 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12255 S 451 0 1 "" NA18907 esv29161 17 5615556 5618057 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15862 S 451 0 1 LOC339166 NA12239 nsv457653 17 5652674 5665837 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534789 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC339166 HGDP00694 nsv470573 17 5652674 5699814 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547451 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC339166 HGDP00694 nsv519243 17 5669057 5670943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696736 S 2026 1 0 LOC339166 dgv3052n71 17 5679875 5719289 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907626,nsv907628,nsv907627 M 6533 16 0 LOC339166 IS40145,MS10549,MS10698,MS10709,MS12045,MS15743,MS17193,MS19324,MS20062,MS20996,MS21038,MS21192,MS24280,MS24419,MS24888,MS25300 nsv111904 17 5684146 5692038 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130482 M 24 LOC339166 esv1667172 17 5686115 5686115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092160 S 2 1 0 LOC339166 HuRef nsv457654 17 5690836 5714624 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534790 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC339166 HGDP01323 nsv907629 17 5690836 5719289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551553,nssv1561333 M 6533 2 0 LOC339166 MS18933,MS24935 esv3267 17 5701532 5702645 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25708 S 1 0 1 Single Asian sample YH LOC339166 YH esv6456 17 5701602 5702606 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28897 S 1 0 1 LOC339166 SJK nsv524677 17 5713000 5719289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700648 S 2026 0 1 LOC339166 nsv1958 17 5726487 5741568 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9537 S 9 1 0 LOC339166 NA18507 nsv507833 17 5733362 5739362 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617917 S 4 1 0 LOC339166 CHM nsv457655 17 5753252 5859286 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534791 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC339166 HGDP01036 nsv470574 17 5753252 5859384 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547452 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC339166 HGDP01036 esv24131 17 5766328 5766838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20082 S 451 0 1 LOC339166 NA18907 esv992740 17 5825790 5829136 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564670 S 3 0 0 "" HuRef esv2640952 17 5826357 5827816 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176314 S 1 0 0 "" NA18507 esv1203573 17 5826739 5827291 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959843 S 2 0 0 "" HuRef nsv436701 17 5827502 5829860 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465585 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2257256 17 5874139 5874842 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629320 S 1 0 1 "" NA18507 esv3097 17 5874240 5874694 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25538 S 1 0 1 Single Asian sample YH "" YH nsv112057 17 5874342 5874658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130635 M 24 "" esv6497 17 5874343 5874646 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28938 S 1 0 1 "" SJK esv2421889 17 5899425 5903107 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013237,essv5099627,essv5120374,essv5064083,essv5092837,essv5145889,essv5061823,essv5157602,essv5031107,essv5080709,essv5055200,essv5133985,essv5156436 M 1184 0 13 "" NA19149,NA19151,NA19160,NA19204,NA19235,NA19237,NA19247,NA19334,NA19373,NA19456,NA20335,NA21439,NA21447 nsv516089 17 5901573 5902369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669748,nssv691849,nssv674559,nssv654319,nssv661627,nssv659574,nssv666124,nssv672312,nssv670609,nssv669508,nssv663171,nssv679279 M 2026 0 12 "" nsv442408 17 5901573 5903107 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv524445 17 5901573 5910843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700378 S 2026 0 1 "" esv26217 17 5913170 5915104 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17306 S 451 0 2 WSCD1 NA07045,NA18511 nsv1959 17 5966976 5997297 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7302 S 9 0 1 WSCD1 NA12156 esv2997 17 5977216 5977627 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25438 S 1 0 1 Single Asian sample YH "" YH nsv457656 17 6013193 6071817 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534792 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01201 nsv509649 17 6027977 6039629 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618121 S 4 1 0 "" CHM nsv1960 17 6030439 6048857 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4246 S 9 1 0 "" NA12878 nsv457657 17 6033270 6076564 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534793 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01264 dgv926e1 17 6034605 6087870 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13285,esv1033 M 271 0 0 "" NA19202 esv1770694 17 6038164 6038164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676003 S 2 1 0 "" HuRef esv1502735 17 6038279 6038279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858297 S 2 1 0 "" HuRef nsv517031 17 6038618 6077274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654643,nssv663357,nssv683448,nssv686707,nssv686598,nssv685093,nssv652895,nssv676079,nssv677574,nssv653052,nssv658453,nssv665413,nssv684439,nssv666434,nssv667679,nssv659964,nssv653646,nssv671624,nssv664080,nssv681191,nssv673025,nssv653189,nssv660273,nssv673898,nssv661322,nssv666922,nssv680628,nssv681079,nssv689504,nssv658250,nssv673787,nssv693959,nssv666342,nssv671396,nssv669240,nssv684021,nssv663887,nssv675168,nssv675020,nssv688931,nssv658714 M 2026 0 41 "" esv28128 17 6042627 6067580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16042 S 451 0 5 "" NA18511,NA18907,NA18916,NA19147,NA19190 esv2422036 17 6047210 6073498 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5088190,essv5002899,essv5064844,essv5129682,essv5102598,essv5109284,essv5073268,essv5114861,essv5010177,essv5124159,essv5043024,essv5144329,essv5138216,essv5123915,essv5136115,essv5024484,essv5117977,essv5078091,essv5018578,essv5059535,essv5095039,essv5129960,essv5136288,essv5044369,essv5056128,essv5123901,essv5028165,essv5026605,essv5026469,essv5079976,essv5062815,essv5126710,essv5125089,essv5098065,essv5021717,essv5148293,essv5108953,essv5024129,essv5156406,essv5050953,essv5146945,essv5118655,essv5131492,essv5045091,essv5002007,essv5147124,essv5020478,essv5150066,essv5025440,essv5056294,essv5141317,essv5153877,essv5112788,essv5050178,essv5072763,essv5042411,essv5079045,essv5052975,essv5147018,essv5104358,essv5096578,essv5044008,essv5108960,essv5108646,essv5069763,essv5112541,essv5090289,essv5067371,essv5007538,essv5025307 M 1184 0 70 "" NA18484,NA18487,NA18488,NA18511,NA18916,NA18917,NA18930,NA19044,NA19147,NA19176,NA19190,NA19191,NA19200,NA19202,NA19209,NA19211,NA19235,NA19237,NA19248,NA19314,NA19327,NA19332,NA19371,NA19374,NA19380,NA19381,NA19383,NA19385,NA19396,NA19397,NA19436,NA19446,NA19448,NA19455,NA19456,NA19457,NA19468,NA19917,NA21300,NA21311,NA21312,NA21313,NA21314,NA21339,NA21357,NA21364,NA21378,NA21399,NA21401,NA21402,NA21423,NA21425,NA21436,NA21475,NA21477,NA21488,NA21509,NA21513,NA21517,NA21521,NA21576,NA21582,NA21597,NA21616,NA21617,NA21631,NA21689,NA21693,NA21825,NA21826 essv8712 17 6047210 6087870 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19200 nsv442409 17 6047214 6073498 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514858 17 6048310 6063946 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628277 S 1414 0 1 "" esv28352 17 6103345 6104670 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12955 S 451 2 0 "" NA18508,NA18511 esv23498 17 6144966 6146013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17292 S 451 0 2 "" NA19099,NA19240 esv267974 17 6212116 6212201 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518645,essv2519106 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA19141 nsv521701 17 6218382 6218612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694474 S 2026 0 1 "" nsv522153 17 6228715 6232132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694926 S 2026 0 1 "" esv2751768 17 6228993 6251460 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982009,essv6982008 M 771 1 0 "" BEC_512 esv1271708 17 6229291 6229291 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989062 S 2 1 0 "" HuRef dgv174n21 17 6237444 6252121 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520718,nsv520009 M 2026 3 0 "" nsv457658 17 6237444 6252121 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534794 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00896 nsv519881 17 6302512 6303457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659295,nssv673505 M 2026 0 2 PITPNM3 nsv524539 17 6302512 6313993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700489 S 2026 0 1 PITPNM3 esv2539012 17 6362805 6364342 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218128 S 1 0 1 PITPNM3 NA18507 esv1197663 17 6363231 6363397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631490 S 2 0 1 PITPNM3 HuRef nsv526449 17 6373023 6373699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702752 S 2026 0 1 PITPNM3 esv4900 17 6404872 6405658 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27341 S 1 0 1 Single Asian sample YH "" YH esv5532 17 6404962 6405159 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27973 S 1 0 1 "" SJK esv26106 17 6476963 6477988 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19616 S 451 0 1 KIAA0753 NA12828 esv273047 17 6479311 6479642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580908 S 7 1 0 Samples from several populations that are part of the HapMap project. KIAA0753 NA19238 esv267669 17 6479362 6479694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546257,essv2535169,essv2530868,essv2552556,essv2532300,essv2562774,essv2550092,essv2537061,essv2527145,essv2561593,essv2544649,essv2562973,essv2540388,essv2524694,essv2564871,essv2534726,essv2539900,essv2559807,essv2531275,essv2532526,essv2567551,essv2541613,essv2570209,essv2572479,essv2559088,essv2551148,essv2543440,essv2528101,essv2534118,essv2573178,essv2533778,essv2567153,essv2566388,essv2530004,essv2527489,essv2557709,essv2556076,essv2531663,essv2577120,essv2571867,essv2525741,essv2575584,essv2575161,essv2538696,essv2574789,essv2530228,essv2568713,essv2560503,essv2548096,essv2549672,essv2571346 M 157 51 0 Samples from several populations that are part of the HapMap project. KIAA0753 NA11881,NA12249,NA12873,NA18502,NA18505,NA18507,NA18511,NA18517,NA18522,NA18523,NA18526,NA18532,NA18552,NA18555,NA18558,NA18561,NA18563,NA18570,NA18573,NA18576,NA18582,NA18592,NA18593,NA18609,NA18638,NA18858,NA18870,NA18907,NA18916,NA18942,NA18944,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18961,NA18970,NA18973,NA18980,NA19099,NA19102,NA19108,NA19138,NA19141,NA19147,NA19190,NA19210,NA19225,NA19238 nsv907630 17 6506471 6738497 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534849 S 6533 1 0 ALOX12P2,FBXO39,SLC13A5,TEKT1,XAF1 MS11741 esv259925 17 6523453 6523862 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398404,essv2399130,essv2394873 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18609,NA18942 nsv907631 17 6538241 6552954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499742 S 6533 0 1 SLC13A5 SP50159 nsv510432 17 6568629 6574629 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624183 S 4 0 1 "" NA18994 nsv907632 17 6613894 6636915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577437 S 6533 0 1 FBXO39,XAF1 IS34440 esv2422288 17 6633976 7490752 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161417 S 181 0 1 ACADVL,ACAP1,ALOX12,ALOX12P2,ASGR1,ASGR2,BCL6B,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf81,CD68,CHRNB1,CLDN7,CLEC10A,CTDNEP1,DLG4,DVL2,EIF4A1,EIF5A,FGF11,FXR2,GABARAP,GPS2,KCTD11,LOC100506713,MIR195,MIR324,MIR497,MIR497HG,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,RNASEK,RNASEK-C17ORF49,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC16A11,SLC16A13,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TEKT1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,YBX2,ZBTB4 ND01705 nsv521515 17 6699238 6801331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698132 S 2026 0 1 ALOX12P2 nsv518777 17 6739102 6742988 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696230 S 2026 1 0 ALOX12P2 esv21524 17 6739343 6739875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19274 S 451 0 1 ALOX12P2 NA12414 esv991759 17 6763057 6763588 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587126 S 3 0 1 "" HuRef esv2634213 17 6787465 6789383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188580 S 1 0 1 "" NA18507 nsv1961 17 6788929 6824697 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1341 S 9 0 1 "" NA19240 esv998176 17 6794143 6803634 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564540 S 3 0 1 "" HuRef nsv512474 17 6795696 6797380 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625072 S 1 0 1 "" 1 esv991297 17 6796279 6797240 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587061 S 3 0 1 "" HuRef nsv498867 17 6812278 6817902 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585728 S 9 0 1 "" esv24362 17 6812288 6817831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19548 S 451 0 1 "" NA19240 esv989475 17 6814733 6815890 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563693 S 3 0 1 "" HuRef esv1969738 17 6815266 6815962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723092 S 1 0 1 "" NA18507 esv5365 17 6815298 6815833 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27806 S 1 0 1 Single Asian sample YH "" YH esv1182794 17 6815460 6815762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803961 S 2 0 1 "" HuRef nsv907633 17 6830281 6841569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510962 S 6533 0 1 ALOX12,LOC100506713 SP54988 nsv907634 17 6845658 6898357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530875 S 6533 0 1 ALOX12,BCL6B,C17orf49,LOC100506713,MIR195,MIR497,MIR497HG,RNASEK,RNASEK-C17ORF49,SLC16A11,SLC16A13 MS10311 esv1008363 17 6849950 6850450 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586149 S 3 0 1 ALOX12,LOC100506713 HuRef nsv457659 17 6854376 7533505 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534795 S 1557 0 1 ACADVL,ACAP1,ALOX12,ASGR1,ASGR2,ATP1B2,BCL6B,C17orf49,C17orf61,C17orf61-PLSCR3,C17orf74,C17orf81,CD68,CHRNB1,CLDN7,CLEC10A,CTDNEP1,DLG4,DVL2,EIF4A1,EIF5A,FGF11,FXR2,GABARAP,GPS2,KCTD11,LOC100506713,MIR195,MIR324,MIR497,MIR497HG,MPDU1,NEURL4,NLGN2,PHF23,PLSCR3,POLR2A,RNASEK,RNASEK-C17ORF49,SAT2,SENP3,SENP3-EIF4A1,SHBG,SLC16A11,SLC16A13,SLC2A4,SLC35G6,SNORA48,SNORA67,SNORD10,SOX15,SPEM1,TMEM102,TMEM95,TNFSF12,TNFSF12-TNFSF13,TNFSF13,TNK1,TP53,WRAP53,YBX2,ZBTB4 NINDS_91 esv269077 17 6871238 6871323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518753 S 157 1 0 Samples from several populations that are part of the HapMap project. BCL6B NA12045 nsv827869 17 6872032 6872519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439344 S 31 1 0 BCL6B NA18973 esv259439 17 6872369 6872628 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394179,essv2393807 M 6 0 0 Samples from several populations that are part of the HapMap project. BCL6B NA12878,NA12892 esv259689 17 6872398 6872659 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398062,essv2397299,essv2396943,essv2395655,essv2399266,essv2396494,essv2399440,essv2394670,essv2396424 M 144 0 0 Samples from several populations that are part of the HapMap project. BCL6B NA12144,NA12878,NA12892,NA18501,NA18508,NA18517,NA18858,NA18870,NA19138 esv987894 17 6872478 6872478 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579332 S 3 1 0 BCL6B HuRef nsv111719 17 6872480 6872480 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130297 M 24 BCL6B esv1009485 17 6872530 6872530 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575506 S 3 1 0 BCL6B HuRef esv1378459 17 6872531 6872531 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217978 S 2 1 0 BCL6B HuRef nsv112411 17 6872542 6872542 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130989 M 24 BCL6B nsv512475 17 6880298 6881985 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625073 S 1 0 1 SLC16A13 1 esv1405948 17 6881116 6881491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134337 S 2 0 1 SLC16A13 HuRef nsv482199 17 6885673 6887966 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558560 S 1 1 0 SLC16A11 KB1 nsv907635 17 6903235 6982970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503977 S 6533 0 1 ASGR2,CLEC10A SP52147 nsv516297 17 6907775 6915009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658715,nssv667398 M 2026 0 2 "" esv5167 17 6913405 6922042 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27608 S 1 0 1 Single Asian sample YH CLEC10A YH esv28478 17 7018302 7021067 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14502 S 451 0 1 ASGR1 NA19257 dgv3053n71 17 7032374 7232831 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907636,nsv907638,nsv907639 M 6533 0 3 ACADVL,ACAP1,C17orf81,CLDN7,CTDNEP1,DLG4,DVL2,EIF5A,GABARAP,GPS2,KCTD11,MIR324,NEURL4,PHF23,SLC2A4,TMEM95,TNK1,YBX2 IS37646,MS17208,MS18276 nsv907637 17 7042016 7173735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592363 S 6533 0 1 ACADVL,C17orf81,CLDN7,CTDNEP1,DLG4,DVL2,EIF5A,GABARAP,GPS2,MIR324,NEURL4,PHF23,SLC2A4,YBX2 IS39233 nsv1962 17 7045223 7078110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6697 S 9 1 0 ACADVL,DLG4,DVL2,MIR324 NA12156 esv28577 17 7082189 7083223 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17241 S 451 0 1 PHF23 NA19108 nsv907640 17 7086705 7113333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510963 S 6533 0 1 C17orf81,CLDN7,CTDNEP1 SP54988 nsv1963 17 7088628 7177898 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4247 S 9 0 1 C17orf81,CLDN7,CTDNEP1,EIF5A,GPS2,NEURL4,SLC2A4,YBX2 NA12878 nsv907641 17 7132815 7185201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510176,nssv1510964 M 6533 0 2 ACAP1,EIF5A,GPS2,NEURL4,YBX2 SP54956,SP54988 nsv827870 17 7140438 7150861 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428529 S 31 1 0 "" NA18969 esv995061 17 7143009 7146473 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563478 S 3 1 0 "" HuRef nsv509650 17 7143122 7182757 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619709,nssv623710 M 4 2 0 ACAP1,EIF5A,GPS2,NEURL4 NA10860,NA18994 nsv827871 17 7145866 7146487 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422229 S 31 0 1 "" NA18997 esv1067891 17 7146588 7146588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157801 S 2 1 0 "" HuRef nsv827872 17 7153881 7155087 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428640 S 31 1 0 EIF5A NA18969 nsv827873 17 7153881 7155832 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439345 S 31 1 0 EIF5A NA18973 nsv907642 17 7157264 7210097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530876,nssv1579022 M 6533 0 2 ACAP1,GPS2,KCTD11,NEURL4,TMEM95 IS35007,MS10311 nsv907643 17 7190594 7210097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510177 S 6533 0 1 ACAP1,KCTD11,TMEM95 SP54956 esv21960 17 7205490 7206527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14375,esv20776 M 451 0 3 "" NA11931,NA11993,NA12749 nsv907644 17 7223868 7287026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592364 S 6533 0 1 C17orf61,C17orf61-PLSCR3,C17orf74,FGF11,NLGN2,PLSCR3,SPEM1,TMEM102,TNK1 IS39233 nsv523672 17 7223868 7393701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699476 S 2026 0 1 C17orf61,C17orf61-PLSCR3,C17orf74,CHRNB1,FGF11,NLGN2,PLSCR3,POLR2A,SLC35G6,SPEM1,TMEM102,TNFSF12,TNFSF12-TNFSF13,TNK1,ZBTB4 nsv907645 17 7226555 7260866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510178,nssv1510965 M 6533 0 2 C17orf61,C17orf61-PLSCR3,NLGN2,PLSCR3,TNK1 SP54956,SP54988 nsv470575 17 7232831 7276779 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547454,nssv547453 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf61,C17orf61-PLSCR3,C17orf74,NLGN2,PLSCR3,SPEM1,TNK1 HGDP00789,HGDP00978 dgv3054n71 17 7234439 7336273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907646,nsv907649 M 6533 0 2 C17orf61,C17orf61-PLSCR3,C17orf74,CHRNB1,FGF11,NLGN2,PLSCR3,POLR2A,SLC35G6,SPEM1,TMEM102,ZBTB4 IS40828,MS17208 dgv3055n71 17 7234962 7262582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907647,nsv907648 M 6533 0 2 C17orf61,C17orf61-PLSCR3,NLGN2,PLSCR3 SP51109,SP55021 esv1007381 17 7235643 7249068 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565658 S 3 0 1 C17orf61,C17orf61-PLSCR3,PLSCR3 HuRef nsv907650 17 7248706 7262582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508912 S 6533 0 1 NLGN2 SP54593 nsv827874 17 7256311 7256912 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432491 S 31 1 0 NLGN2 AK20 nsv526176 17 7260866 7276779 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702437 S 2026 1 0 C17orf74,NLGN2,SPEM1 esv1000184 17 7277700 7278491 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586939 S 3 1 0 "" HuRef nsv827876 17 7277700 7278491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434746 S 31 0 1 "" NA18570 esv29636 17 7277809 7278290 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10853 S 451 0 1 "" NA12044 nsv907651 17 7381708 7470627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592365 S 6533 0 1 CD68,EIF4A1,FXR2,MPDU1,SAT2,SENP3,SENP3-EIF4A1,SHBG,SNORA48,SNORA67,SNORD10,SOX15,TNFSF12,TNFSF12-TNFSF13,TNFSF13 IS39233 esv1589337 17 7390524 7390524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654042 S 2 1 0 "" HuRef nsv907652 17 7480591 7497415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510179 S 6533 0 1 ATP1B2 SP54956 esv2520895 17 7595990 7596203 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169674 S 1 0 1 DNAH2 NA18507 nsv833351 17 7599734 7737906 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453091,nssv1453092 M 95 0 2 CHD3,CYB5D1,DNAH2,KDM6B,LSMD1,TMEM88 nsv518326 17 7628907 7659220 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695756 S 2026 1 0 DNAH2 nsv907653 17 7670431 7703793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510180 S 6533 0 1 CYB5D1,DNAH2,KDM6B,LSMD1,TMEM88 SP54956 esv28370 17 7682081 7682841 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10521 S 451 0 1 "" NA19108 nsv513463 17 7682127 7682702 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625868 S 1 1 0 "" 1 esv989512 17 7696439 7696490 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578816 S 3 0 1 KDM6B HuRef dgv510n67 17 7696472 7755491 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827877,nsv827878 M 31 2 0 CHD3,CYB5D1,KDM6B,LSMD1,SCARNA21,TMEM88 NA18969,NA18973 nsv907654 17 7719282 7773491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510181 S 6533 0 1 CHD3,KCNAB3,LOC284023,SCARNA21 SP54956 nsv457660 17 7725020 7796844 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534796 S 1557 0 1 CHD3,CNTROB,KCNAB3,LOC284023,SCARNA21,TRAPPC1 1780862399_A nsv833352 17 7873762 8031618 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453098,nssv1453095,nssv1453097,nssv1453099,nssv1453096,nssv1453094,nssv1453093 M 95 0 7 ALOX12B,ALOX15B,ALOXE3,HES7,MIR3676,MIR4314,MIR4521,PER1,TMEM107,VAMP2 nsv528325 17 7892544 7895090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704906 S 2026 0 1 ALOX15B esv2055097 17 7896652 7897012 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854269 S 1 0 1 "" NA18507 nsv907655 17 7906338 7931640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592366,nssv1575165 M 6533 0 2 ALOX12B IS33684,IS39233 nsv907656 17 7927441 7937365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504185 S 6533 0 1 ALOX12B,MIR4314 SP52274 nsv907657 17 7949260 8002827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592367 S 6533 0 1 ALOXE3,HES7,PER1 IS39233 nsv518133 17 7950629 7950953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695549 S 2026 0 1 ALOXE3 nsv457661 17 7950629 7991704 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534797 S 1557 0 1 ALOXE3,HES7,PER1 NINDS_3 nsv523885 17 7950889 7950953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699727 S 2026 0 1 ALOXE3 nsv112429 17 7952053 7952053 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131007 M 24 ALOXE3 esv22594 17 7956363 7957047 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15285 S 451 1 0 ALOXE3 NA19129 nsv514860 17 7958139 7960236 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627170 S 1414 0 0 ALOXE3 nsv518983 17 7968318 7991704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696451 S 2026 0 1 PER1 nsv907658 17 7968318 8071592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543717,nssv1546935 M 6533 0 2 AURKB,C17orf59,CTC1,LINC00324,MIR3676,MIR4521,PER1,TMEM107,VAMP2 MS16153,MS17208 nsv1964 17 7984136 8019263 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4248 S 9 1 0 PER1,TMEM107,VAMP2 NA12878 nsv527475 17 7984478 8033419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703919 S 2026 0 1 C17orf59,MIR3676,MIR4521,PER1,TMEM107,VAMP2 nsv516242 17 7988894 7991704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678432,nssv667001 M 2026 0 2 PER1 nsv833353 17 7994103 8170826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453101,nssv1453100 M 95 0 2 ARHGEF15,AURKB,C17orf59,CTC1,LINC00324,MIR3676,MIR4521,PER1,PFAS,RANGRF,SLC25A35,TMEM107,VAMP2 dgv3056n71 17 7999705 8017140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907660,nsv907659 M 6533 0 2 TMEM107,VAMP2 SP51109,SP54956 esv2597330 17 8009869 8010664 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218032 S 1 1 0 "" NA18507 nsv513464 17 8010129 8010294 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625869 S 1 1 0 "" 1 nsv827879 17 8017235 8018116 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428862 S 31 1 0 TMEM107 NA18969 nsv907661 17 8093655 8211272 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500679 S 6533 1 0 ARHGEF15,LOC100128288,ODF4,PFAS,RANGRF,SLC25A35 SP50118 nsv470576 17 8139229 8169025 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547455 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF15 HGDP00599 nsv527633 17 8139886 8157462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704102 S 2026 0 1 ARHGEF15 nsv1967 17 8144451 8189367 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7303 S 9 0 1 ARHGEF15,ODF4 NA12156 nsv457664 17 8155442 8198338 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534799 S 1557 1 0 ARHGEF15,ODF4 1780862084_A nsv827880 17 8178827 8179868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427898 S 31 0 1 "" AK8 esv989739 17 8180455 8188957 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563632 S 3 0 1 ODF4 HuRef esv2555685 17 8186699 8189230 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314765 S 1 0 1 ODF4 NA18507 nsv512476 17 8186869 8189118 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625074 S 1 0 1 ODF4 1 esv1978259 17 8187259 8188887 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550335 S 1 0 1 ODF4 NA18507 dgv3057n71 17 8213492 8254579 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907662,nsv907663 M 6533 0 4 KRBA2,RNF222,RPL26 IS33504,IS39233,MS10311,SP54956 nsv1968 17 8237373 8261131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4249,nssv1342,nssv7305 M 9 3 0 RNF222 NA12156,NA12878,NA19240 nsv509651 17 8239776 8288558 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621035 S 4 1 0 NDEL1,RNF222 NA15510 esv1006535 17 8253383 8253385 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564013 S 3 1 0 "" HuRef esv1538717 17 8253508 8253508 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112149 S 2 1 0 "" HuRef nsv112058 17 8304205 8310973 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130636 M 24 NDEL1 esv2112361 17 8325007 8325401 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669979 S 1 0 1 MYH10 NA18507 nsv111760 17 8325087 8325155 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130338 M 24 MYH10 esv1105639 17 8325138 8325207 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191105 S 2 0 1 MYH10 HuRef nsv111869 17 8325156 8325224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130447 M 24 MYH10 nsv907664 17 8372178 8470734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518224 S 6533 0 1 MYH10 SP57472 nsv510433 17 8378169 8384169 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621442,nssv624184,nssv622269,nssv618423 M 4 0 4 MYH10 CHM,NA10860,NA15510,NA18994 esv270828 17 8391121 8391309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510170,essv2496641,essv2511226,essv2504446,essv2512465,essv2495336,essv2496182,essv2498442,essv2495545,essv2504924,essv2503561,essv2502381,essv2493031,essv2500505,essv2506531,essv2499642,essv2502049,essv2503920 M 157 18 0 Samples from several populations that are part of the HapMap project. MYH10 NA07037,NA10851,NA11894,NA11931,NA11993,NA12043,NA12287,NA18511,NA18858,NA18916,NA18942,NA18947,NA18948,NA18951,NA18956,NA19108,NA19225,NA19257 nsv907665 17 8391482 8456361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503704 S 6533 0 1 MYH10 SP52094 nsv510434 17 8415583 8421583 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618424,nssv624185,nssv622270,nssv621443 M 4 0 4 MYH10 CHM,NA10860,NA15510,NA18994 nsv907666 17 8530270 8566735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518988 S 6533 1 0 "" SP80925 nsv112539 17 8536772 8536952 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131117 M 24 "" nsv518675 17 8540429 8662333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696125 S 2026 1 0 CCDC42,MFSD6L,PIK3R6,SPDYE4 nsv517666 17 8542005 8544692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657901,nssv652767 M 2026 0 2 "" nsv907667 17 8555303 8602679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508315 S 6533 1 0 CCDC42,SPDYE4 SP54583 nsv907668 17 8555303 8672470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501768 S 6533 0 1 CCDC42,MFSD6L,PIK3R6,SPDYE4 SP50943 esv22176 17 8590414 8591563 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10972,esv11410 M 451 2 0 "" NA11894,NA19129 esv2648767 17 8622495 8623893 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306322 S 1 0 1 "" NA18507 nsv1969 17 8624724 8669909 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7306 S 9 0 1 MFSD6L,PIK3R6 NA12156 nsv521208 17 8647176 8647754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697846 S 2026 0 1 PIK3R6 esv994892 17 8652633 8659256 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564129 S 3 0 1 PIK3R6 HuRef nsv1970 17 8687216 8732167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7307 S 9 0 1 PIK3R5,PIK3R6 NA12156 esv2530577 17 8700844 8701223 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258559 S 1 1 0 PIK3R6 NA18507 nsv510696 17 8716259 8773269 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622714 S 4 0 1 PIK3R5 NA18994 esv2282824 17 8729316 8729789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563246 S 1 0 1 PIK3R5 NA18507 nsv827881 17 8730188 8730913 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432492 S 31 0 1 PIK3R5 AK20 esv259863 17 8749160 8749440 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399016,essv2400870,essv2398661,essv2395673,essv2397689,essv2397796,essv2394994,essv2396144,essv2398950,essv2395344,essv2398345,essv2396436 M 144 0 0 Samples from several populations that are part of the HapMap project. PIK3R5 NA10851,NA11993,NA12489,NA18501,NA18502,NA18505,NA18511,NA18523,NA18603,NA18916,NA19093,NA19138 nsv833354 17 8765888 8919717 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453102 S 95 0 1 NTN1,PIK3R5 nsv827882 17 8823842 8883640 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428973 S 31 1 0 NTN1 NA18969 nsv519210 17 8824503 8830866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696700 S 2026 0 1 "" nsv7289 17 8856047 9522889 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4251,nssv9320,nssv10109,nssv2162,nssv1344,nssv2163 M 9 0 0 NTN1,STX8,USP43,WDR16 NA12878,NA18517,NA18555,NA18956,NA19240 nsv516433 17 8861324 8867899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693309,nssv668334 M 2026 0 2 NTN1 esv25265 17 8864903 8867601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20336 S 451 0 1 NTN1 NA18511 nsv833355 17 8898858 9074649 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453103 S 95 0 1 NTN1 nsv1971 17 8905162 8917856 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1343,nssv4250 M 9 2 0 NTN1 NA12878,NA19240 nsv519212 17 8914277 8933807 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696701 S 2026 1 0 NTN1 esv1003228 17 8993683 9005684 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564043 S 3 0 1 NTN1 HuRef nsv111830 17 9005941 9006057 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130408 M 24 NTN1 nsv907669 17 9056130 9082048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543718 S 6533 0 1 NTN1 MS16153 dgv3058n71 17 9056130 9093824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907670,nsv907671 M 6533 0 3 NTN1 IS33162,IS40799,MS18276 nsv519249 17 9064619 9099875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696741 S 2026 0 1 NTN1,STX8 nsv521247 17 9071043 9086693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697413,nssv689704,nssv688335 M 2026 0 3 NTN1 esv27693 17 9119953 9122107 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13685 S 451 0 1 STX8 NA19225 nsv833356 17 9137748 9332478 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453105,nssv1453104 M 95 2 0 STX8 nsv528816 17 9141140 9148178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705490 S 2026 0 1 STX8 nsv521947 17 9141551 9141636 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694716 S 2026 1 0 STX8 dgv175n21 17 9178470 9182843 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527589,nsv518614 M 2026 0 2 STX8 esv29975 17 9181292 9209227 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84214 S 2 0 1 STX8 HuRef nsv509652 17 9185024 9218076 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621036 S 4 1 0 STX8 NA15510 esv29207 17 9194926 9211757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10251 S 451 1 0 STX8 NA15510 esv33701 17 9197787 9205922 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93871,essv100978,essv95159,essv98312,essv93978,essv97821,essv95482,essv93070,essv95773,essv92861,essv96160,essv93449,essv96558,essv97778,essv100122,essv100456,essv100345 M 51 0 17 STX8 21634,21693,21721,21772,21802,21837,21847,21863,21911,21939,22007,22128,22261,22278,22286,22298,22300 nsv153 17 9198372 9199615 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv153 S 1 1 0 STX8 NA15510 nsv1972 17 9198372 9199615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10965 S 9 1 0 STX8 NA15510 nsv436063 17 9198838 9210055 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465586 S 2 1 0 STX8 NA15510 nsv111672 17 9209018 9210166 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130250 M 24 STX8 nsv524312 17 9246895 9249026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700214 S 2026 0 1 STX8 nsv907672 17 9254666 9306213 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574947 S 6533 0 1 STX8 IS33669 esv2533392 17 9257536 9258450 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335912 S 1 1 0 STX8 NA18507 nsv1973 17 9305189 9341018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7308,nssv2164 M 9 2 0 STX8 NA12156,NA18555 nsv528692 17 9316144 9321546 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705335 S 2026 1 0 STX8 nsv833357 17 9362399 9540648 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453107,nssv1453106 M 95 0 2 STX8,USP43,WDR16 nsv1974 17 9371798 9390173 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10110 S 9 1 0 STX8 NA18956 nsv1975 17 9452859 9486156 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1345 S 9 1 0 WDR16 NA19240 nsv833358 17 9487785 9672288 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453108 S 95 1 0 DHRS7C,GLP2R,USP43 nsv510697 17 9573683 9656132 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617427 S 4 0 1 DHRS7C,USP43 CHM nsv833360 17 9578676 9745028 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453109 S 95 0 1 DHRS7C,GLP2R,RCVRN dgv176n21 17 9612883 9616859 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527124,nsv521132 M 2026 0 3 DHRS7C nsv528877 17 9614258 9616859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705557 S 2026 0 1 DHRS7C nsv1976 17 9629661 9674697 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7309 S 9 0 1 DHRS7C,GLP2R NA12156 nsv833361 17 9629905 9823132 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453110 S 95 1 0 DHRS7C,GAS7,GLP2R,RCVRN dgv38n68 17 9741074 9937622 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833363,nsv833362 M 95 0 5 GAS7,RCVRN nsv516119 17 9745218 9761420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684355,nssv666317 M 2026 0 2 GAS7,RCVRN nsv1978 17 9778878 9780289 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5636 S 9 1 0 GAS7 NA19129 nsv833364 17 9865573 10035291 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453116 S 95 1 0 GAS7 nsv907673 17 9908739 10372000 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519730 S 6533 1 0 GAS7,MYH1,MYH13,MYH2,MYH4,MYH8 SP50178 nsv520771 17 9917302 10372000 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704582,nssv678986,nssv681464,nssv686382,nssv688187,nssv698606,nssv703147,nssv675196,nssv699406,nssv695877,nssv695051 M 2026 5 6 GAS7,MYH1,MYH13,MYH2,MYH4,MYH8 nsv907674 17 9926566 9992990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524269 S 6533 1 0 GAS7 SP54942 dgv3059n71 17 9944526 10021106 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907676,nsv907677,nsv907675 M 6533 3 0 GAS7 MS16039,MS16153,SP54099 nsv833365 17 9979758 10130238 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453117 S 95 1 0 GAS7 esv269561 17 10019269 10019354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514557,essv2516710,essv2517507,essv2515774,essv2519127 M 157 5 0 Samples from several populations that are part of the HapMap project. GAS7 NA11840,NA11881,NA11918,NA12815,NA19141 nsv907678 17 10024100 10095073 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523579 S 6533 1 0 GAS7 SP54099 nsv907679 17 10102644 10372000 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523580 S 6533 1 0 MYH1,MYH13,MYH2,MYH4,MYH8 SP54099 nsv907680 17 10112605 10134845 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523984 S 6533 1 0 "" SP54317 nsv470577 17 10112605 10141246 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547458,nssv547457 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01220,HGDP01305 dgv359n27 17 10112605 10142840 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457666,nsv457665 M 1557 2 0 "" HGDP01244,HGDP01305 nsv457667 17 10128654 10154767 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534802 S 1557 0 1 MYH13 1782681110_A esv2648260 17 10143352 10144987 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172901 S 1 0 1 MYH13 NA18507 esv2245689 17 10143990 10144706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818570 S 1 0 1 "" NA18507 esv2758 17 10144068 10144550 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25199 S 1 0 1 Single Asian sample YH "" YH esv2639168 17 10144153 10144503 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342495 S 1 0 1 "" NA18507 esv1669249 17 10144159 10144510 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862803 S 2 0 1 "" HuRef nsv827883 17 10166790 10172839 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436441 S 31 0 1 MYH13 NA18592 esv22034 17 10181488 10182343 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12408 S 451 1 0 MYH13 NA19114 nsv833366 17 10195548 10345813 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453118 S 95 1 0 MYH1,MYH13,MYH4,MYH8 nsv507834 17 10261088 10267088 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623220,nssv620612 M 4 2 0 MYH8 NA15510,NA18994 nsv907681 17 10338610 10368291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505405 S 6533 0 1 MYH1,MYH2 SP53458 esv1537305 17 10450350 10450350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150424 S 2 1 0 "" HuRef nsv907682 17 10526695 10641050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542269 S 6533 1 0 C17orf48,LOC100289255,SCO1,TMEM220 MS15743 nsv833367 17 10527883 10670675 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453119 S 95 0 1 C17orf48,LOC100289255,PIRT,SCO1,TMEM220 esv1506826 17 10599718 10599718 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235262 S 2 1 0 "" HuRef esv1720636 17 10603258 10603258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265923 S 2 1 0 "" HuRef nsv523093 17 10648010 10651899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698785 S 2026 0 1 LOC100289255 nsv907683 17 10681333 10711005 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542270 S 6533 1 0 PIRT MS15743 esv5066 17 10690632 10691059 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27507 S 1 0 1 Single Asian sample YH "" YH esv27530 17 10702389 10707441 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17106 S 451 0 1 "" NA19257 nsv827884 17 10703457 10703912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430162 S 31 0 1 "" NA18968 nsv515551 17 10705319 10705934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666783,nssv663886,nssv691477,nssv664777,nssv659834,nssv667522 M 2026 0 6 "" nsv833368 17 10736300 10882638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453120 S 95 1 0 "" nsv522189 17 10744138 10749538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694964 S 2026 0 1 "" nsv907684 17 10755467 10884111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503862 S 6533 1 0 "" SP52117 esv275531 17 10798168 10803266 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585861,essv2586002 M 1250 1 1 "" nsv907685 17 10822776 10850398 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538127 S 6533 1 0 "" MS13490 esv5356 17 10827251 10836500 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27797 S 1 1 0 Single Asian sample YH "" YH esv3969 17 10827553 10836533 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26410 S 1 0 1 Single Asian sample YH "" YH nsv112575 17 10827584 10836460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131153 M 24 "" esv8358 17 10827586 10836472 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30799 S 1 0 1 "" SJK esv268331 17 10828823 10829149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576018,essv2542339,essv2523120,essv2525521,essv2535033,essv2529393,essv2558606,essv2576463,essv2519956,essv2564118,essv2562031,essv2562697,essv2524683,essv2549547,essv2559900,essv2528992,essv2541842,essv2559162,essv2578280,essv2573180,essv2522537,essv2536186,essv2533206,essv2547808,essv2524849,essv2563399 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA07357,NA10847,NA11830,NA11919,NA12004,NA12156,NA12249,NA12749,NA12750,NA12814,NA12815,NA12828,NA12874,NA18507,NA18555,NA18564,NA18570,NA18579,NA18592,NA18638,NA18940,NA18942,NA18960 esv1232722 17 10828854 10828854 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266510 S 2 1 0 "" HuRef nsv457668 17 10828987 10840419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534803 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00954 nsv517386 17 10830346 10836404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675636,nssv691438,nssv666452,nssv676931,nssv651869,nssv665435,nssv664980,nssv672310,nssv689667,nssv687933,nssv664163,nssv690758,nssv670237,nssv661321,nssv666897 M 2026 0 15 "" esv25950 17 10831072 10836407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17501 S 451 0 3 "" NA12414,NA18858,NA19240 nsv827885 17 10831181 10836433 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422231,nssv1425370,nssv1422818,nssv1440012,nssv1430205,nssv1434037,nssv1427117,nssv1423815,nssv1424611,nssv1431694,nssv1427899 M 31 0 11 "" AK14,AK18,AK2,AK6,AK8,NA18526,NA18537,NA18547,NA18582,NA18997,NA18999 nsv820178 17 10831192 10836619 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419708 S 2 0 1 "" AK1 nsv907686 17 10836404 10850398 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520234 S 6533 1 0 "" SP50756 nsv833369 17 10887573 11072124 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453121 S 95 0 1 "" nsv1979 17 10921286 10966760 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6698 S 9 0 1 "" NA12156 nsv907687 17 10930716 11023937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534873 S 6533 0 1 "" MS11753 dgv50n17 17 10959235 10977806 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437814,nsv437811 M 60 0 2 "" NA18863,NA19208 esv27444 17 10968957 10977235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15051 S 451 0 1 "" NA18861 nsv517122 17 10970310 10976324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690153,nssv673869,nssv665534,nssv662357,nssv664062,nssv654317,nssv678049,nssv667122,nssv691906,nssv690343,nssv671147,nssv684908,nssv674436,nssv691847,nssv683075,nssv692490,nssv667064,nssv653821,nssv677273,nssv685690,nssv670163,nssv673220,nssv665436,nssv682904,nssv685960 M 2026 0 25 "" esv2421866 17 10970310 10977174 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5040834,essv5042895,essv5106313,essv5142671,essv5051056,essv5022526,essv5012428,essv5031063,essv5104457,essv5113122,essv5155940,essv5012417,essv5094884,essv5049802,essv5149354,essv5093928,essv5098979,essv5136690,essv5041290,essv5114637,essv5119635,essv5122540,essv5069457 M 1184 0 23 "" NA18485,NA18487,NA18489,NA18498,NA18861,NA18863,NA18873,NA19107,NA19109,NA19141,NA19143,NA19176,NA19184,NA19203,NA19207,NA19208,NA19239,NA19712,NA19901,NA20292,NA20294,NA20345,NA21634 nsv517798 17 10976324 10987551 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695201 S 2026 1 0 "" nsv9492 17 10978582 11038431 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28167 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv457669 17 11125882 11150676 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534804 S 1557 0 1 SHISA6 NINDS_160 nsv112054 17 11131755 11131755 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130632 M 24 SHISA6 nsv833371 17 11132723 11344170 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453122 S 95 1 0 SHISA6 esv25916 17 11151962 11152721 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15790 S 451 2 0 SHISA6 NA11931,NA12878 nsv523923 17 11156730 11162804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699768 S 2026 0 1 SHISA6 nsv457670 17 11156730 11174760 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534805 S 1557 0 1 SHISA6 1780862001_A esv274513 17 11157303 11157543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578871 S 7 1 0 Samples from several populations that are part of the HapMap project. SHISA6 NA19239 nsv154 17 11157980 11202026 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv154 S 1 0 1 SHISA6 NA15510 nsv1980 17 11157980 11202026 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10966 S 9 0 1 SHISA6 NA15510 nsv518545 17 11162804 11165079 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695988 S 2026 1 0 SHISA6 nsv519168 17 11175344 11181147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696650 S 2026 0 1 SHISA6 nsv526919 17 11179760 11181147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703282 S 2026 0 1 SHISA6 nsv510698 17 11188187 11240228 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620095 S 4 0 1 SHISA6 NA15510 nsv498868 17 11190423 11200651 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585729 S 9 0 1 SHISA6 esv22761 17 11190432 11200514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21068 S 451 0 1 SHISA6 NA15510 nsv433304 17 11190944 11207572 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463185 S 9 0 1 SHISA6 NA15510 esv33600 17 11191993 11199898 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98696,essv97040,essv99060,essv93680,essv98604,essv99667,essv98448 M 51 7 0 SHISA6 21606,21817,21938,21972,22085,22217,22352 esv22264 17 11246898 11247568 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16264 S 451 2 0 SHISA6 NA07045,NA12749 esv1972844 17 11296509 11296928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883624 S 1 0 1 SHISA6 NA18507 nsv1981 17 11343582 11374615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7310 S 9 0 1 SHISA6 NA12156 esv22543 17 11352286 11353191 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11197 S 451 13 3 SHISA6 NA06985,NA07037,NA07045,NA11931,NA11995,NA12239,NA12776,NA12878,NA15510,NA18861,NA18907,NA18916,NA19099,NA19114,NA19240,NA19257 nsv820333 17 11352286 11353191 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419921 S 1 0 1 SHISA6 NA10851 esv2073057 17 11370726 11371175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4991583 S 1 0 1 SHISA6 NA18507 nsv907688 17 11401370 11456387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528863 S 6533 1 0 DNAH9,SHISA6 SP81383 nsv112347 17 11423125 11423125 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130925 M 24 "" nsv1982 17 11441241 11447734 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7311 S 9 1 0 DNAH9 NA12156 nsv907689 17 11467983 11484182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518776 S 6533 1 0 DNAH9 SP58007 esv2636140 17 11538102 11539449 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325024 S 1 0 1 DNAH9 NA18507 esv3161 17 11538553 11539044 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25602 S 1 0 1 Single Asian sample YH DNAH9 YH esv1254302 17 11538794 11538878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679344 S 2 0 1 DNAH9 HuRef esv1227452 17 11538947 11538947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690844 S 2 1 0 DNAH9 HuRef esv1274728 17 11555929 11555981 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247776 S 2 0 1 DNAH9 HuRef esv25918 17 11864727 11865746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18295 S 451 0 1 MAP2K4 NA18511 esv991595 17 11885777 11887498 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586933 S 3 1 0 MAP2K4 HuRef nsv1983 17 11929273 11959317 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1346 S 9 1 0 MAP2K4 NA19240 dgv3060n71 17 11941357 12132064 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907691,nsv907690 M 6533 2 0 MAP2K4 IS30085,IS31228 dgv177n21 17 12000976 12026365 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519225,nsv516020 M 2026 5 0 "" nsv521164 17 12060510 12074911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697822 S 2026 0 1 "" esv2167075 17 12106210 12106593 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671618 S 1 0 1 "" NA18507 esv2629720 17 12136558 12138286 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259392 S 1 0 1 "" NA18507 esv2262289 17 12137110 12137831 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650936 S 1 0 1 "" NA18507 esv3234 17 12137251 12137758 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25675 S 1 0 1 Single Asian sample YH "" YH nsv111935 17 12137305 12137621 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130513 M 24 "" esv993155 17 12137308 12137624 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568114 S 3 0 1 "" HuRef esv2462431 17 12137313 12137629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373494 S 1 0 1 "" NA18507 esv1179355 17 12137319 12137636 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653004 S 2 0 1 "" HuRef esv7645 17 12137321 12137619 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30086 S 1 0 1 "" SJK nsv515526 17 12139547 12143063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663829,nssv669211 M 2026 0 2 "" nsv524704 17 12143063 12155589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700687 S 2026 0 1 "" esv2593735 17 12159939 12162546 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167700 S 1 0 1 "" NA18507 nsv457671 17 12173209 12197672 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534806 S 1557 0 1 "" NINDS_127 nsv521166 17 12186550 12188938 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697823 S 2026 1 0 "" esv1729509 17 12195407 12195407 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589207 S 2 1 0 "" HuRef esv1009685 17 12279376 12288877 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563616 S 3 0 1 "" HuRef esv34095 17 12280303 12686023 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ARHGAP44,FLJ34690,MYOCD nsv1984 17 12282854 12330639 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5637,nssv9538,nssv1347,nssv10111,nssv4252 M 9 0 5 "" NA12878,NA18507,NA18956,NA19129,NA19240 esv2549953 17 12286102 12289069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335789 S 1 0 1 "" NA18507 esv1493644 17 12286572 12286572 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851158 S 2 1 0 "" HuRef esv1426321 17 12287322 12287505 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090653 S 2 0 1 "" HuRef esv2586224 17 12293314 12300653 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291654 S 1 0 1 "" NA18507 esv2228284 17 12293684 12300157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508897 S 1 0 1 "" NA18507 esv1002193 17 12293715 12300917 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565408 S 3 0 1 "" HuRef esv2940 17 12293829 12300053 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25381 S 1 0 1 Single Asian sample YH "" YH esv6415 17 12293865 12299987 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28856 S 1 0 1 "" SJK esv23527 17 12321720 12328414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15706 S 451 0 1 "" NA19190 nsv1985 17 12325164 12358625 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4253 S 9 1 0 "" NA12878 nsv528136 17 12368962 12383556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704681 S 2026 0 1 "" esv2446444 17 12495310 12496827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169093 S 1 0 1 "" NA18507 esv1616263 17 12496202 12496293 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055952 S 2 0 1 "" HuRef nsv528173 17 12502970 12505336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704722 S 2026 0 1 "" nsv524458 17 12582057 12588133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700392 S 2026 0 1 MYOCD nsv833372 17 12669548 12800643 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453123 S 95 0 1 ARHGAP44 esv270747 17 12694398 12694522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496807,essv2510741,essv2494254,essv2498289,essv2503326,essv2497165,essv2506401,essv2494412,essv2496077,essv2512898,essv2500564 M 157 11 0 Samples from several populations that are part of the HapMap project. ARHGAP44 NA18498,NA18501,NA18502,NA18526,NA18542,NA18552,NA18566,NA18572,NA18603,NA18609,NA18956 esv271684 17 12736405 12736490 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519088 S 157 1 0 Samples from several populations that are part of the HapMap project. ARHGAP44 NA19141 nsv112059 17 12757741 12757794 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130637 M 24 ARHGAP44 nsv1986 17 12848405 12878905 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6699 S 9 1 0 ELAC2 NA12156 esv2148861 17 12863577 12863952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803774 S 1 0 1 "" NA18507 esv2569288 17 12866655 12866707 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372946 S 1 0 1 "" NA18507 nsv833373 17 12930070 13098904 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453124 S 95 1 0 "" nsv457672 17 12937680 12964321 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534807 S 1557 0 1 "" 1780862312_A esv273202 17 12985852 12986172 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582399,essv2584831,essv2583505 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv270407 17 12985853 12986173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575932,essv2540716,essv2571579,essv2546569,essv2526281,essv2542294,essv2536457,essv2522671,essv2543795,essv2570785,essv2545518,essv2577383,essv2548331,essv2576522,essv2535393,essv2554326,essv2520508,essv2558576,essv2564527,essv2577766,essv2553567,essv2576353,essv2520016,essv2528598,essv2551658,essv2532360,essv2562641,essv2523665,essv2541325,essv2538392,essv2543002,essv2540327,essv2524349,essv2539563,essv2549244,essv2519874,essv2522197,essv2532803,essv2528899,essv2541654,essv2563815,essv2553251,essv2572426,essv2541889,essv2568940,essv2556334,essv2527894,essv2562270,essv2539339,essv2573102,essv2555684,essv2566414,essv2529886,essv2574007,essv2555918,essv2534290,essv2522524,essv2531671,essv2573355,essv2525724,essv2526740,essv2575382,essv2526341,essv2574940,essv2530310,essv2572757,essv2568829,essv2545058,essv2545894,essv2574109,essv2536270,essv2533052,essv2554376,essv2524871,essv2563478,essv2558065 M 157 76 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12043,NA12045,NA12154,NA12249,NA12287,NA12716,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12891,NA18504,NA18505,NA18507,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18563,NA18564,NA18566,NA18571,NA18576,NA18579,NA18592,NA18603,NA18605,NA18609,NA18856,NA18861,NA18871,NA18907,NA18909,NA18912,NA18942,NA18945,NA18948,NA18949,NA18951,NA18956,NA18959,NA18960,NA18961,NA18964,NA18980,NA19005,NA19099,NA19114,NA19138,NA19141,NA19143,NA19147,NA19172,NA19239,NA19240 esv275354 17 13010680 13011985 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585843,essv2585722 M 1250 1 1 "" nsv1987 17 13024783 13056163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7312 S 9 0 1 "" NA12156 esv25656 17 13039176 13042329 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14838 S 451 0 1 "" NA19099 esv275514 17 13096599 13097486 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585457,essv2586137 M 1250 1 1 "" nsv833374 17 13102483 13265727 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453125 S 95 1 0 "" nsv516172 17 13117537 13174929 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666624,nssv674974 M 2026 2 0 "" nsv457675 17 13135914 13172613 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534809 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01286 esv29428 17 13154371 13155546 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14786 S 451 0 1 "" NA18523 esv2583850 17 13160637 13162271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180664 S 1 0 1 "" NA18507 esv1946242 17 13161024 13161750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508586 S 1 0 1 "" NA18507 esv3650 17 13161169 13161637 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26091 S 1 0 1 Single Asian sample YH "" YH esv8266 17 13161227 13161526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30707 S 1 0 1 "" SJK esv34170 17 13254552 13718932 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 HS3ST3A1 nsv111988 17 13311362 13311362 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130566 M 24 "" nsv833375 17 13317394 13506230 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453126 S 95 0 1 HS3ST3A1 nsv111994 17 13345231 13345336 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130572 M 24 HS3ST3A1 esv271959 17 13377540 13377850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526107,essv2522776,essv2556699,essv2523289,essv2521594,essv2576819,essv2525486,essv2535344,essv2552246,essv2547208,essv2529294,essv2564612,essv2577996,essv2565484,essv2576161,essv2564274,essv2520980,essv2557496,essv2569410,essv2558742,essv2527382,essv2541403,essv2538176,essv2542979,essv2540472,essv2534633,essv2549340,essv2532727,essv2528719,essv2559219,essv2556388,essv2539329,essv2533934,essv2578287,essv2555759,essv2543386,essv2571974,essv2525691,essv2575773,essv2538502,essv2560658,essv2549964,essv2571121,essv2546038,essv2574095,essv2536034,essv2548950,essv2533317,essv2547860,essv2525130,essv2563516 M 157 51 0 Samples from several populations that are part of the HapMap project. HS3ST3A1 NA06986,NA07037,NA07051,NA07347,NA07357,NA10847,NA11918,NA11931,NA11994,NA12004,NA12144,NA12154,NA12156,NA12249,NA12489,NA12717,NA12749,NA12751,NA12761,NA12812,NA12814,NA12828,NA18498,NA18499,NA18508,NA18516,NA18522,NA18545,NA18547,NA18550,NA18552,NA18561,NA18564,NA18576,NA18579,NA18638,NA18871,NA18912,NA18916,NA18940,NA18945,NA18965,NA18973,NA18980,NA19099,NA19108,NA19116,NA19225,NA19238,NA19239,NA19240 esv273769 17 13377540 13377850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584027,essv2584541,essv2583701 M 7 3 0 Samples from several populations that are part of the HapMap project. HS3ST3A1 NA19238,NA19239,NA19240 nsv469679 17 13415315 13594294 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649610 M 265 0 8 Samples from several populations that are part of the HapMap project. HS3ST3A1 nsv471696 17 13415316 13594294 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549982,nssv549980,nssv549985,nssv549979,nssv549988,nssv549989,nssv549981,nssv549987,nssv549983,nssv549990,nssv549986,nssv549984 M 48 10 2 HS3ST3A1 JK1688,NA10473,NA11323,NA15726,NA15731,NA15733,NA16688,NA16689,NA17015,NA17052,NA17059,P86GA nsv819391 17 13455229 13458633 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419535 S 2 1 0 "" AK1 nsv907692 17 13455430 13499805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594223 S 6533 0 1 "" IS39718 esv24632 17 13472216 13473377 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14409 S 451 0 5 "" NA07045,NA12239,NA15510,NA19108,NA19240 dgv511n67 17 13472540 13473530 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827888,nsv827887 M 31 0 6 "" AK10,AK8,NA18526,NA18570,NA18968,NA18972 nsv9493 17 13498240 13499738 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23792 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv507835 17 13501087 13507087 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620613 S 4 1 0 "" NA15510 nsv9494 17 13560483 13565386 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23495,nssv26597,nssv26677 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18563,NA18972,NA19132 esv25448 17 13565432 13566156 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19378 S 451 1 0 "" NA12749 esv1152666 17 13626587 13626587 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925522 S 2 1 0 "" HuRef esv1727213 17 13626712 13626712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129878 S 2 1 0 "" HuRef esv1441678 17 13627606 13628070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748216 S 2 0 1 "" HuRef esv21840 17 13640694 13641662 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12418 S 451 2 0 "" NA12878,NA18511 esv2615328 17 13644667 13646091 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236379 S 1 0 1 "" NA18507 esv2187851 17 13645085 13645757 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810201 S 1 0 1 "" NA18507 esv3782 17 13645247 13645693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26223 S 1 0 1 Single Asian sample YH "" YH dgv48n6 17 13645270 13645574 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv111728,nsv112583 M 24 "" esv8608 17 13645288 13645561 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31049 S 1 0 1 "" SJK esv271200 17 13740345 13740682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517771,essv2516172,essv2517361,essv2513951,essv2518874,essv2518220,essv2513565 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12878,NA12891,NA18970,NA19143,NA19239,NA19240 esv272330 17 13740350 13740677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582024,essv2582481,essv2584516,essv2583362 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv522060 17 13740642 13748934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694831 S 2026 0 1 "" esv275344 17 13791615 13794898 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585692 S 1250 0 1 "" nsv519674 17 13792989 13793379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696985 S 2026 0 1 "" dgv927e1 17 13821966 14069281 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv616,essv9058 M 271 0 0 CDRT15P1,COX10 NA19132 esv268604 17 13825037 13825371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545372,essv2577679,essv2553517,essv2576352,essv2561940,essv2539953,essv2557287,essv2552660,essv2550052,essv2539074,essv2541954,essv2562446,essv2534045,essv2572740,essv2560387,essv2548074,essv2545747,essv2537898,essv2554575 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA12003,NA12761,NA12763,NA12814,NA12874,NA18489,NA18499,NA18502,NA18511,NA18519,NA18856,NA18909,NA18916,NA19143,NA19190,NA19210,NA19239 esv272724 17 13825041 13825381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580963,essv2579543 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv1989 17 13856005 13875551 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7313 S 9 0 1 CDRT15P1 NA12156 essv14935 17 13900781 13965204 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. COX10 NA19132 nsv9495 17 13981856 13988010 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28169 S 31 0 1 Samples from several populations that are part of the HapMap project. COX10 NA19221 nsv510699 17 13995685 14018532 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618940 S 4 0 1 COX10 NA10860 nsv436740 17 14030347 14040311 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465588 S 2 1 0 Samples from several populations that are part of the HapMap project. COX10 NA18505 nsv907693 17 14030694 14077818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526173 S 6533 0 1 COX10 SP57061 esv267808 17 14116582 14116667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519099 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv26471 17 14128961 14132281 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17402,esv13438,esv17792 M 451 4 9 "" NA06985,NA11894,NA11993,NA12004,NA12239,NA12828,NA18505,NA18858,NA19114,NA19129,NA19190,NA19240,NA19257 esv994324 17 14129927 14132354 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565277 S 3 0 1 "" HuRef esv2654196 17 14130090 14132988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368697 S 1 0 1 "" NA18507 nsv512477 17 14130416 14132394 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625075 S 1 0 1 "" 1 esv2195929 17 14130442 14132400 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531929 S 1 0 1 "" NA18507 esv4821 17 14130574 14132344 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27262 S 1 0 1 Single Asian sample YH "" YH nsv820557 17 14130623 14132281 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419922 S 1 0 1 "" NA10851 esv1433958 17 14130636 14132281 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016752 S 2 0 1 "" HuRef esv8295 17 14130638 14132278 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30736 S 1 0 1 "" SJK nsv511587 17 14131403 14135688 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626215 S 1 0 1 "" 1 dgv65e180 17 14131601 14132433 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003198,esv1006826 M 3 0 1 "" HuRef nsv827889 17 14131601 14132433 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424612,nssv1425371,nssv1440703,nssv1427901,nssv1430184,nssv1430966,nssv1433291,nssv1434748,nssv1422232,nssv1437814,nssv1437087,nssv1430717,nssv1429458,nssv1432493,nssv1429084,nssv1430206,nssv1440013,nssv1436452,nssv1439347,nssv1423816,nssv1435476,nssv1431695,nssv1438486,nssv1423001,nssv1434039,nssv1422831 M 31 0 26 "" AK12,AK14,AK16,AK18,AK2,AK20,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv827890 17 14131925 14132433 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428701,nssv1426186,nssv1436220 M 31 0 3 "" AK10,AK4,NA18566 nsv457676 17 14207722 14233633 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534810 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00686 nsv470578 17 14207722 14233633 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547459 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00686 nsv827891 17 14253248 14260395 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432494 S 31 1 0 "" AK20 esv2604261 17 14334881 14335771 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220901 S 1 1 0 "" NA18507 esv1519719 17 14335349 14335349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136332 S 2 1 0 "" HuRef nsv433168 17 14350387 14351933 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463049 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv270883 17 14358613 14358924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494268,essv2506280,essv2505709,essv2507122,essv2509329,essv2501476,essv2510841,essv2509503,essv2498767,essv2497036,essv2493874 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18523,NA18861,NA18870,NA18909,NA19093,NA19116,NA19129,NA19138,NA19190,NA19210 esv2326164 17 14385920 14386389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788406 S 1 0 1 "" NA18507 nsv833376 17 14413537 14607154 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453127 S 95 1 0 "" nsv907695 17 14421734 14456358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561597 S 6533 0 1 "" MS25112 nsv907696 17 14456358 14513126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562799 S 6533 0 1 "" MS25750 esv273050 17 14468342 14468529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579198 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270319 17 14468347 14468675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558116,essv2540760,essv2542300,essv2536710,essv2544162,essv2568136,essv2523107,essv2548498,essv2550269,essv2529211,essv2564441,essv2553896,essv2565274,essv2520058,essv2537571,essv2546678,essv2557423,essv2552559,essv2562613,essv2569235,essv2578713,essv2550230,essv2558803,essv2537153,essv2538892,essv2561691,essv2552881,essv2538404,essv2542754,essv2540619,essv2524612,essv2534877,essv2560987,essv2539803,essv2549455,essv2519740,essv2559926,essv2531153,essv2532761,essv2567981,essv2528805,essv2570133,essv2553137,essv2572234,essv2559389,essv2566826,essv2543764,essv2556399,essv2527775,essv2562177,essv2533898,essv2578367,essv2573063,essv2555284,essv2527602,essv2534383,essv2573452,essv2543087,essv2526943,essv2575472,essv2526488,essv2560506,essv2545856,essv2551246,essv2536046,essv2538137,essv2549081,essv2533338,essv2554542 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA10851,NA11831,NA11919,NA11920,NA11992,NA11995,NA12004,NA12045,NA12234,NA12749,NA12751,NA12763,NA12812,NA12815,NA12878,NA12892,NA18499,NA18502,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18523,NA18542,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18952,NA18959,NA18964,NA18965,NA19005,NA19099,NA19114,NA19190,NA19239,NA19257 esv990981 17 14468363 14468363 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569285 S 3 1 0 "" HuRef esv1664401 17 14468379 14468379 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769032 S 2 1 0 "" HuRef nsv457677 17 14479927 14516314 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534811 S 1557 0 1 "" 1782681294_A nsv827892 17 14494616 14540742 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429196 S 31 0 1 "" NA18969 esv22973 17 14500673 14501959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15746 S 451 0 2 "" NA19099,NA19257 nsv827893 17 14509500 14510049 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422233,nssv1430208,nssv1430196,nssv1431696 M 31 0 4 "" AK14,AK18,NA18968,NA18997 nsv507836 17 14608754 14614754 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623221,nssv619182 M 4 2 0 "" NA10860,NA18994 esv2464762 17 14625876 14627307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247167 S 1 0 1 "" NA18507 esv2403028 17 14626170 14626685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865563 S 1 0 1 "" NA18507 esv2650936 17 14758606 14760044 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281679 S 1 0 1 "" NA18507 esv267637 17 14758659 14758999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515395,essv2515793 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA18969 nsv907697 17 14784066 14865912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594817 S 6533 1 0 "" IS40031 nsv907698 17 14806380 14850204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558554 S 6533 0 1 "" MS23340 nsv457678 17 14826612 14839198 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534812 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01185 nsv907699 17 14834735 14850204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519517 S 6533 0 1 "" SP81073 nsv457679 17 14843143 14856327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534813 S 1557 0 1 "" NINDS_132 esv28065 17 14879725 14881820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16049,esv10173 M 451 0 10 "" NA11894,NA11993,NA12044,NA18505,NA18517,NA18523,NA18861,NA19114,NA19240,NA19257 esv2543895 17 14899037 14900554 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357935 S 1 0 1 "" NA18507 dgv3061n71 17 14967525 15005916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907701,nsv907700,nsv907702 M 6533 0 3 "" IS35299,MS10296,MS10362 dgv360n27 17 14968730 15000001 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457683,nsv457682,nsv457680,nsv457681 M 1557 0 4 "" HGDP00812,HGDP01180,HGDP01288,HGDP01399 nsv1990 17 14981992 15034769 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2165 S 9 0 1 "" NA18555 esv273449 17 14983723 14984001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578924 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268451 17 14983725 14983920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511906,essv2504316,essv2496480,essv2496271,essv2494783,essv2506251,essv2513378,essv2509133,essv2495728,essv2501279,essv2504753,essv2506495,essv2493531,essv2497564,essv2501818,essv2498103 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18505,NA18510,NA18511,NA18519,NA18523,NA18907,NA18909,NA18916,NA19093,NA19099,NA19108,NA19137,NA19147,NA19239,NA19240 nsv9496 17 14984106 14999875 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23580,nssv23720,nssv20839,nssv22820 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18552,NA18564,NA18572,NA18975 esv4607 17 14984542 14999489 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27048 S 1 0 1 Single Asian sample YH "" YH nsv498869 17 14984626 14999446 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585730 S 9 0 1 "" nsv442735 17 14984651 14995227 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422017 17 14984651 14998961 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038777,essv5146403,essv5125271,essv5026171,essv5039443,essv5045374,essv5109824,essv5079125,essv5049191,essv5101138,essv5079584,essv5040509,essv5106679,essv5079951,essv5143322,essv5067883,essv5075745,essv5025345,essv5025800,essv5077494,essv5097250,essv5147585,essv5032869,essv5092189,essv5028303,essv5043673,essv5127232,essv5051134,essv5046377,essv5007254,essv5097602,essv5062854,essv5117203,essv5156309,essv5046467,essv5050351,essv5079736,essv5131564,essv5017686,essv5093389,essv5109403,essv5064970,essv5040738,essv5025300,essv5053740,essv5032635,essv5099937,essv5090618,essv5131061,essv5111147,essv5065849,essv5076429,essv5090097,essv5115353,essv5020335,essv5053748,essv5111729,essv5055723,essv5126536,essv5152049,essv5148801,essv5153507,essv5052118,essv5135413,essv5026780,essv5143289,essv5148434,essv5027004,essv5060334,essv5129552,essv5056145,essv5099138,essv5035213,essv5079390,essv5152575,essv5024230,essv5110341,essv5056781,essv5072380,essv5061177,essv5087679,essv5082015,essv5070179,essv5099023,essv5139838,essv5057899,essv5108444,essv5063144,essv5040614,essv5154217,essv5141732,essv5049873,essv5157445,essv5074548,essv5083129,essv5060113 M 1184 0 96 "" NA17965,NA17970,NA17975,NA17977,NA17980,NA17982,NA17993,NA18101,NA18102,NA18108,NA18114,NA18117,NA18120,NA18125,NA18129,NA18132,NA18135,NA18138,NA18139,NA18140,NA18143,NA18144,NA18150,NA18151,NA18153,NA18157,NA18160,NA18161,NA18162,NA18532,NA18545,NA18546,NA18548,NA18552,NA18555,NA18557,NA18564,NA18572,NA18573,NA18577,NA18582,NA18592,NA18596,NA18599,NA18605,NA18611,NA18613,NA18618,NA18620,NA18621,NA18626,NA18628,NA18630,NA18631,NA18634,NA18636,NA18645,NA18647,NA18670,NA18682,NA18694,NA18740,NA18943,NA18945,NA18947,NA18948,NA18957,NA18961,NA18964,NA18974,NA18975,NA18978,NA18981,NA18990,NA18991,NA18993,NA18999,NA19000,NA19001,NA19005,NA19054,NA19055,NA19058,NA19066,NA19068,NA19074,NA19080,NA19081,NA19088,NA19656,NA19782,NA19784,NA20755,NA20772,NA20853,NA20899 nsv433305 17 14984724 14998961 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463186 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18555 nsv817752 17 14984724 14998961 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417690,nssv1417164,nssv1417612 M 112 0 3 "" NA18547,NA18978,NA18999 nsv438272 17 14984724 14999250 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470667,nssv470669,nssv470668 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18572,NA18592,NA18991 dgv361n27 17 14984724 15001332 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457684,nsv457693,nsv457692,nsv457690,nsv457691,nsv457686,nsv457694,nsv457687,nsv457689,nsv457688 M 1557 0 10 "" HGDP00161,HGDP00583,HGDP00758,HGDP00832,HGDP00977,HGDP01209,HGDP01231,HGDP01240,HGDP01312,HGDP01341 nsv827894 17 14985036 14999469 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423002,nssv1430967,nssv1436463,nssv1430730,nssv1440704,nssv1424613,nssv1426188,nssv1422843,nssv1432495,nssv1423818,nssv1431698 M 31 0 11 "" AK16,AK18,AK20,AK4,NA18547,NA18552,NA18564,NA18582,NA18592,NA18947,NA18999 nsv514825 17 14985258 14999389 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628278 S 1414 0 1 "" nsv1991 17 15070002 15094782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1348 S 9 1 0 PMP22 NA19240 esv8863 17 15109772 15109851 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31304 S 1 1 0 "" SJK dgv512n67 17 15124112 15125856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827898,nsv827896,nsv827895 M 31 0 16 "" AK12,AK16,AK18,AK20,AK4,AK6,AK8,NA18566,NA18570,NA18592,NA18942,NA18949,NA18951,NA18972,NA18973,NA18997 esv21608 17 15124209 15126335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17643 S 451 0 3 "" NA12006,NA12489,NA12776 nsv907703 17 15140632 15311426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511793 S 6533 1 0 CDRT4,FAM18B2-CDRT4,TEKT3 SP55077 nsv1992 17 15254790 15285930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1350 S 9 1 0 CDRT4,FAM18B2-CDRT4 NA19240 esv2346287 17 15308937 15309551 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558905 S 1 0 1 CDRT4,FAM18B2-CDRT4 NA18507 esv4023 17 15309112 15309451 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26464 S 1 0 1 Single Asian sample YH CDRT4,FAM18B2-CDRT4 YH nsv457695 17 15388089 15552220 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534829 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDRT1,FAM18B2,FAM18B2-CDRT4,TRIM16,ZNF286A HGDP00800 esv2421995 17 15483424 15487515 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5154862,essv5071153,essv5083983,essv5084033,essv5066168,essv5092074,essv5087233,essv5076254,essv5087585,essv5095137,essv5018961,essv5008904,essv5135426,essv5056993,essv5014395,essv5076422,essv5071999,essv5051461,essv5144744,essv5130838,essv5029267,essv5121866,essv5126940,essv5087911,essv5013609,essv5097039,essv5129180,essv5128159,essv5116166,essv5069044,essv5051956,essv5035538,essv5155069,essv5107473,essv5035006,essv5074943,essv5147632,essv5013732,essv5133356,essv5120550,essv5053095,essv5034534,essv5140647,essv5022078,essv5083192,essv5057891,essv5054171,essv5134745,essv5004363,essv5113184,essv5153951,essv5033615,essv5080192,essv5150660,essv5158733,essv5159550,essv5087076,essv5079674,essv5133604,essv5022592,essv5010842,essv5071087,essv5148715,essv5011523,essv5149724,essv5043778,essv5106169,essv5030131,essv5037537,essv5088380,essv5035702,essv5098157,essv5033635,essv5028819,essv5119154,essv5046868,essv5148411,essv5133573,essv5067943,essv5153653,essv5020040,essv5055370,essv5138310,essv5031839,essv5126652,essv5051791,essv5134702,essv5074778,essv5035994,essv5084583,essv5071397,essv5005134,essv5053831,essv5101848,essv5075679,essv5124626,essv5023783,essv5031878,essv5108847,essv5036868,essv5149057,essv5138411,essv5132047,essv5135902,essv5131648,essv5104112,essv5019552,essv5026295,essv5039088,essv5005392,essv5128524,essv5152499,essv5094207,essv5089946,essv5157294,essv5083306,essv5005793,essv5055658,essv5090914,essv5114155,essv5039939,essv5032677,essv5015498,essv5029923,essv5024793,essv5119241,essv5071013,essv5064369,essv5155264,essv5041986,essv5068179,essv5078750,essv5033399,essv5065071,essv5028449,essv5113088,essv5045837,essv5076537,essv5024473,essv5134713,essv5040590,essv5050028,essv5054725,essv5105943,essv5039139,essv5015695,essv5053533,essv5055356,essv5103606,essv5046076,essv5032510,essv5006468,essv5074942,essv5073212,essv5090915,essv5044956,essv5073418,essv5038832,essv5006715,essv5135870,essv5121113,essv5146214,essv5077302,essv5020916,essv5037651,essv5054701,essv5126844,essv5097946,essv5151749,essv5036579,essv5005065,essv5083915,essv5096060,essv5061508,essv5151351,essv5030791,essv5130847,essv5159462,essv5050275,essv5094973,essv5065121,essv5007304,essv5125336,essv5098648,essv5066198,essv5086457,essv5094687,essv5081687,essv5064871,essv5159160,essv5008118,essv5146322,essv5148289,essv5029468,essv5117109,essv5084615,essv5013603,essv5029962,essv5064980,essv5087736,essv5022224,essv5056573,essv5127100,essv5127164,essv5050527,essv5098323,essv5143915,essv5062603,essv5145418,essv5140445,essv5123590,essv5054400,essv5114649,essv5063502,essv5025640,essv5089982,essv5149201,essv5013686,essv5031482,essv5159757,essv5003169,essv5044079,essv5101906,essv5012705,essv5088963,essv5121768,essv5093716,essv5100856,essv5009719,essv5154288,essv5158462,essv5032631,essv5108728,essv5012024,essv5131477 M 1184 0 235 TRIM16 NA06989,NA07000,NA07014,NA07051,NA07347,NA07349,NA07435,NA11882,NA11992,NA12413,NA12739,NA12740,NA12749,NA12750,NA12751,NA12753,NA12763,NA12775,NA12802,NA12814,NA12865,NA12875,NA12878,NA12891,NA12892,NA17962,NA17967,NA17968,NA17975,NA17981,NA17986,NA17990,NA18105,NA18109,NA18118,NA18129,NA18134,NA18136,NA18140,NA18141,NA18152,NA18154,NA18157,NA18161,NA18505,NA18510,NA18515,NA18517,NA18534,NA18536,NA18542,NA18548,NA18550,NA18563,NA18579,NA18594,NA18597,NA18620,NA18624,NA18631,NA18633,NA18635,NA18642,NA18643,NA18647,NA18704,NA18748,NA18874,NA18875,NA18912,NA18934,NA18935,NA18943,NA18948,NA18949,NA18951,NA18957,NA18959,NA18960,NA18965,NA18969,NA18970,NA18974,NA18975,NA18976,NA18978,NA18981,NA18990,NA19007,NA19044,NA19046,NA19055,NA19056,NA19057,NA19065,NA19066,NA19067,NA19072,NA19075,NA19076,NA19078,NA19079,NA19083,NA19084,NA19087,NA19088,NA19109,NA19114,NA19117,NA19121,NA19171,NA19189,NA19190,NA19191,NA19204,NA19206,NA19208,NA19209,NA19210,NA19211,NA19221,NA19223,NA19236,NA19238,NA19247,NA19249,NA19256,NA19257,NA19308,NA19311,NA19313,NA19314,NA19317,NA19319,NA19334,NA19346,NA19371,NA19375,NA19384,NA19399,NA19435,NA19438,NA19439,NA19445,NA19452,NA19455,NA19466,NA19473,NA19649,NA19657,NA19659,NA19701,NA19711,NA19834,NA19900,NA19902,NA20127,NA20128,NA20276,NA20282,NA20287,NA20294,NA20295,NA20301,NA20302,NA20332,NA20342,NA20343,NA20357,NA20515,NA20525,NA20544,NA20753,NA20783,NA20790,NA20806,NA20811,NA20813,NA20818,NA20849,NA20856,NA20866,NA20869,NA20870,NA20875,NA20882,NA20888,NA20889,NA20892,NA20898,NA20900,NA20903,NA20906,NA20907,NA20909,NA21089,NA21094,NA21100,NA21103,NA21104,NA21106,NA21108,NA21113,NA21116,NA21119,NA21123,NA21137,NA21141,NA21142,NA21303,NA21318,NA21352,NA21355,NA21357,NA21363,NA21383,NA21387,NA21390,NA21404,NA21405,NA21415,NA21420,NA21448,NA21457,NA21509,NA21513,NA21528,NA21587,NA21597,NA21611,NA21617,NA21632,NA21682,NA21683,NA21693 nsv907704 17 15483658 15507921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514867 S 6533 1 0 TRIM16 SP56086 nsv442736 17 15483886 15487515 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TRIM16 nsv520426 17 15495286 15588448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697411 S 2026 0 1 TBC1D26,TRIM16,ZNF286A nsv522130 17 15504118 15533487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694903 S 2026 0 1 TRIM16 nsv518620 17 15504118 15548919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696068 S 2026 0 1 TRIM16,ZNF286A esv26452 17 15530872 15536092 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18981 S 451 0 1 "" NA19225 nsv522564 17 15533487 15548919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705947 S 2026 0 1 ZNF286A nsv515999 17 15548919 15552220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665648,nssv690887,nssv683992,nssv654842,nssv692730 M 2026 0 5 ZNF286A nsv827899 17 15548946 15550113 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428702 S 31 1 0 ZNF286A AK10 nsv907705 17 15552220 15658271 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586695 S 6533 1 0 CDRT15P2,MEIS3P1,TBC1D26,ZNF286A IS37946 nsv518765 17 15568054 15585231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694272 S 2026 0 1 TBC1D26 esv29820 17 15573008 15628889 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10233,esv11477 M 451 6 1 CDRT15P2,TBC1D26 NA18505,NA18511,NA18523,NA18858,NA18861,NA19099,NA19147 nsv436847 17 15574656 15614740 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465589 S 2 1 0 Samples from several populations that are part of the HapMap project. CDRT15P2,TBC1D26 NA18505 esv2421582 17 15583271 15617726 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5006806,essv5100255,essv5028653,essv5018278,essv5019586,essv5040224,essv5050090,essv5106202,essv5056718,essv5102469,essv5080730,essv5155166,essv5158939,essv5064187,essv5022484,essv5084920,essv5107003,essv5138628,essv5133662,essv5120361,essv5129118,essv5065243,essv5075923,essv5018484,essv5139601,essv5053552,essv5045062 M 1184 27 0 CDRT15P2,TBC1D26 NA18484,NA18487,NA18488,NA18503,NA18505,NA18506,NA18507,NA18511,NA18858,NA18871,NA18972,NA19095,NA19097,NA19101,NA19138,NA19139,NA19140,NA19147,NA19352,NA19474,NA21370,NA21522,NA21574,NA21575,NA21577,NA21619,NA21650 nsv516755 17 15585231 15588448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659742,nssv670646 M 2026 0 2 TBC1D26 nsv524553 17 15588448 15620326 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700505 S 2026 0 1 CDRT15P2,TBC1D26 nsv442410 17 15591355 15614730 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CDRT15P2 nsv442411 17 15617726 15635510 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MEIS3P1 nsv519373 17 15618609 15620326 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692539,nssv655731,nssv683946 M 2026 0 3 "" nsv907706 17 15672648 15997167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586696 S 6533 1 0 ADORA2B,NCOR1,TTC19,ZSWIM7 IS37946 nsv1993 17 15699923 15739754 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5638 S 9 0 1 "" NA19129 nsv435677 17 15729200 15734745 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465594 S 2 0 1 "" NA15510 nsv510700 17 15729342 15739451 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620096 S 4 0 1 "" NA15510 nsv436221 17 15730170 15737491 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465595 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv24537 17 15730266 15734437 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15292 S 451 0 33 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12489,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 dgv513n67 17 15730275 15734637 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827901,nsv827900,nsv827902 M 31 0 6 "" NA18537,NA18547,NA18570,NA18942,NA18951,NA18997 nsv514826 17 15731355 15734023 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628279 S 1414 0 1 "" dgv3062n71 17 15787260 15891476 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907709,nsv907708,nsv907707,nsv907710 M 6533 4 0 ADORA2B,NCOR1,TTC19,ZSWIM7 MS10566,SP50973,SP57147,SP57817 nsv512478 17 15801812 15805328 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625076 S 1 0 1 ADORA2B 1 esv2434647 17 15803924 15805505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282166 S 1 0 1 ADORA2B NA18507 esv2286288 17 15804117 15804708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716069 S 1 0 1 ADORA2B NA18507 esv1683190 17 15804312 15804630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183907 S 2 0 1 ADORA2B HuRef esv1788130 17 15823646 15823904 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080266 S 2 0 1 ZSWIM7 HuRef esv29086 17 15843350 15845435 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10435 S 451 0 1 TTC19,ZSWIM7 NA18511 nsv833377 17 15852738 16045240 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453128 S 95 0 1 NCOR1,TTC19 nsv522169 17 15864434 16088546 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694942 S 2026 1 0 NCOR1,PIGL,TTC19 dgv3063n71 17 15919388 16067931 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907713,nsv907712,nsv907714,nsv907711 M 6533 0 5 NCOR1,PIGL SP51450,SP52093,SP52708,SP56154,SP57266 nsv907715 17 15960703 16147265 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517180 S 6533 1 0 MIR1288,NCOR1,PIGL SP57201 nsv907716 17 16009147 16057560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515358 S 6533 0 1 NCOR1 SP56172 nsv907717 17 16017623 16180557 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499517 S 6533 1 0 MIR1288,NCOR1,PIGL SP50128 nsv907718 17 16021574 16084434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508777 S 6533 0 1 NCOR1,PIGL SP54579 nsv528263 17 16038155 16137721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704830 S 2026 0 1 MIR1288,NCOR1,PIGL nsv112235 17 16057549 16060825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130813 M 24 NCOR1 nsv907719 17 16101761 16125847 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500333 S 6533 1 0 PIGL SP50119 nsv1994 17 16133812 16134923 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10112 S 9 1 0 PIGL NA18956 nsv827903 17 16192704 16224485 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429418,nssv1439349 M 31 2 0 CENPV NA18969,NA18973 esv23481 17 16251530 16252203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16007 S 451 0 1 "" NA19108 esv28979 17 16335634 16336430 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20869 S 451 0 1 C17orf76 NA07045 esv2560448 17 16445871 16447776 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343960 S 1 0 1 "" NA18507 esv2152172 17 16446019 16447186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768690 S 1 0 1 "" NA18507 esv3281 17 16446087 16447218 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25722 S 1 0 1 Single Asian sample YH "" YH nsv521494 17 16448673 16449625 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698105 S 2026 1 0 "" dgv928e1 17 16467781 16758162 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17123,essv14358,esv836,essv15085,essv15689 M 271 0 0 CCDC144A,FAM106CP,KRT16P2,LOC162632,ZNF624 NA18912,NA19129,NA19171,NA19194 dgv3064n71 17 16498331 16698929 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907721,nsv907720 M 6533 2 0 CCDC144A,FAM106CP,KRT16P2,LOC162632 IS39243,IS41944 dgv929e1 17 16512229 16674888 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14897,essv2709 M 271 0 0 CCDC144A,FAM106CP,KRT16P2,LOC162632 NA18944,NA19129 esv2635467 17 16530499 16698629 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194242 S 1 0 1 CCDC144A,FAM106CP,KRT16P2,LOC162632 NA18507 nsv833378 17 16536854 16691688 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453129 S 95 1 0 CCDC144A,FAM106CP,KRT16P2,LOC162632 nsv111702 17 16543545 16543545 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130280 M 24 CCDC144A dgv3065n71 17 16584606 16717902 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907723,nsv907722 M 6533 4 0 CCDC144A,FAM106CP,KRT16P2,LOC162632 IS31094,IS37683,IS41859,IS41984 nsv442737 17 16598056 16665025 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CCDC144A,FAM106CP,LOC162632 nsv9497 17 16605420 16607338 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26689 S 31 0 1 Samples from several populations that are part of the HapMap project. CCDC144A NA19132 nsv833379 17 16624310 16800264 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453130 S 95 1 0 FAM106CP,KRT16P2,LOC162632,TNFRSF13B nsv514827 17 16637766 16664818 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627171 S 1414 0 0 LOC162632 dgv3066n71 17 16640557 16684577 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907724,nsv907725 M 6533 0 3 KRT16P2,LOC162632 SP53060,SP57193,SP57690 nsv511581 17 16651565 16665919 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626208 S 1 1 0 "" 1 nsv827904 17 16656768 16665486 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434040 S 31 1 0 "" NA18526 nsv9498 17 16657056 16718531 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26782,nssv24874,nssv25998,nssv23945,nssv26611,nssv26700,nssv24100,nssv28171,nssv23244,nssv23427,nssv27123,nssv24560,nssv22860,nssv23523,nssv25606 M 31 1 14 Samples from several populations that are part of the HapMap project. KRT16P2 NA07048,NA10863,NA18504,NA18517,NA18537,NA18563,NA18853,NA18860,NA18972,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 esv27294 17 16657468 16665371 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14750,esv20191 M 451 5 16 "" NA07037,NA11894,NA11995,NA12004,NA12287,NA12414,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19240,NA19257 dgv514n67 17 16658547 16663924 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827906,nsv827905 M 31 0 4 "" AK18,NA18592,NA18968,NA18972 nsv155 17 16658684 18263022 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv155 S 1 0 0 ALKBH5,ATPAF2,C17orf39,COPS3,DRG2,EVPLL,FLCN,FLII,KRT16P2,LLGL1,LRRC48,MED9,MIR33B,MPRIP,MYO15A,NT5M,PEMT,PLD6,RAI1,RASD1,SHMT1,SMCR5,SMCR7,SMCR8,SMCR9,SREBF1,TNFRSF13B,TOM1L2,TOP3A NA15510 essv2125 17 16658950 16665029 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18959 dgv930e1 17 16658950 16674888 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10188,essv16568,essv19378 M 271 0 0 KRT16P2 NA07019,NA18516,NA19193 dgv931e1 17 16658950 16705555 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19058,essv20878,essv21743 M 271 0 0 KRT16P2 NA10861,NA11830,NA12145 nsv827907 17 16661538 16663924 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430742 S 31 0 1 "" NA18947 nsv499114 17 16689382 18271429 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585522 S 9 0 0 ALKBH5,ATPAF2,C17orf39,COPS3,DRG2,EVPLL,FLCN,FLII,LLGL1,LOC339240,LRRC48,MED9,MIR33B,MPRIP,MYO15A,NT5M,PEMT,PLD6,RAI1,RASD1,SHMT1,SMCR5,SMCR7,SMCR8,SMCR9,SREBF1,TNFRSF13B,TOM1L2,TOP3A nsv907726 17 16761929 16816361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543092 S 6533 1 0 TNFRSF13B MS16042 nsv517238 17 16762350 16765229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678907,nssv689701,nssv667025,nssv654520,nssv692540,nssv675763,nssv654098 M 2026 0 7 "" nsv526289 17 16762350 16778090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702570 S 2026 0 1 "" esv275147 17 16785892 16789475 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586138,essv2585705 M 1250 1 1 TNFRSF13B nsv524738 17 16802057 16804033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700729 S 2026 0 1 TNFRSF13B esv270587 17 16825460 16828531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516370 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv907727 17 16832990 16879307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546936 S 6533 0 1 "" MS17208 nsv1995 17 16891980 16909266 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4254,nssv5642 M 9 2 0 MPRIP NA12878,NA19129 esv270554 17 16921736 16922147 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494988,essv2507238 M 157 2 0 Samples from several populations that are part of the HapMap project. MPRIP NA18520,NA18870 esv2299362 17 16940122 16940562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723520 S 1 0 1 MPRIP NA18507 nsv907728 17 16953914 17036212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543719 S 6533 0 1 MPRIP MS16153 nsv524958 17 16970443 17001530 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700979 S 2026 0 1 MPRIP nsv1996 17 17010389 17042742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6702 S 9 1 0 MPRIP NA12156 nsv833380 17 17029141 17181931 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453131 S 95 0 1 COPS3,FLCN,MPRIP,NT5M,PLD6 nsv833382 17 17065054 17246408 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453133,nssv1453132 M 95 0 2 COPS3,FLCN,NT5M nsv469777 17 17068110 17213423 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649798 M 265 0 0 Samples from several populations that are part of the HapMap project. COPS3,FLCN,NT5M esv1004208 17 17077658 17088610 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565486 S 3 0 1 FLCN HuRef nsv9499 17 17122336 17128395 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24253,nssv27133,nssv28173 M 31 3 0 Samples from several populations that are part of the HapMap project. COPS3 NA12740,NA18860,NA19221 esv33859 17 17130629 17148882 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98706 S 51 0 1 NT5M 21606 esv5295 17 17151402 17151803 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27736 S 1 0 1 Single Asian sample YH NT5M YH esv1198553 17 17151564 17151680 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292828 S 2 0 1 NT5M HuRef esv2813 17 17170908 17172066 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25254 S 1 0 1 Single Asian sample YH NT5M YH esv6568 17 17170985 17171975 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29009 S 1 0 1 NT5M SJK nsv112007 17 17171083 17171958 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130585 M 24 NT5M esv26411 17 17172009 17176308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10397 S 451 0 1 NT5M NA19257 nsv9500 17 17173522 17176600 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24646 S 31 0 1 Samples from several populations that are part of the HapMap project. NT5M NA19173 esv275128 17 17210483 17216479 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585610,essv2585542 M 1250 1 1 "" esv1010969 17 17244843 17249472 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564774 S 3 0 1 "" HuRef nsv515800 17 17262921 17285378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664821,nssv668349 M 2026 0 2 SMCR9 nsv907729 17 17279261 17366004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510184 S 6533 0 1 MED9,PEMT,RASD1 SP54956 nsv907730 17 17298729 17355942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570818 S 6533 0 1 MED9,PEMT,RASD1 IS32322 nsv907731 17 17298729 17445581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571951 S 6533 0 1 MED9,PEMT,RASD1 IS32841 nsv827909 17 17299670 17335056 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429529,nssv1439350 M 31 2 0 MED9 NA18969,NA18973 esv2441601 17 17303924 17304589 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347076 S 1 1 0 "" NA18507 nsv513465 17 17304150 17304421 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625870 S 1 1 0 "" 1 dgv3067n71 17 17322489 17366583 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907734,nsv907733,nsv907732 M 6533 0 5 MED9,PEMT,RASD1 IS30197,IS33514,IS33630,IS34407,MS18276 dgv3068n71 17 17322489 17406183 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907735,nsv907736 M 6533 0 3 MED9,PEMT,RASD1 IS33797,IS34304,MS10311 nsv907737 17 17328892 17351755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510966 S 6533 0 1 MED9,PEMT,RASD1 SP54988 dgv3069n71 17 17345311 17366583 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907740,nsv907738 M 6533 2 5 PEMT IS30473,IS33263,IS34005,IS35007,IS37577,IS38262,MS21905 dgv3070n71 17 17345311 17373469 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907742,nsv907739,nsv907741 M 6533 0 4 PEMT IS30127,IS33738,IS36117,IS36785 nsv907743 17 17345311 17389314 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572692,nssv1597343,nssv1538715,nssv1565565,nssv1576753 M 6533 1 4 PEMT IS30467,IS33162,IS34235,IS40799,MS13770 dgv3071n71 17 17345311 17445581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907747,nsv907744 M 6533 0 4 PEMT IS33504,IS33684,IS37646,IS38403 nsv907745 17 17351936 17370652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540935 S 6533 0 1 PEMT MS15094 nsv907746 17 17352757 17419642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580933 S 6533 0 1 PEMT IS35484 nsv907748 17 17352757 17723129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546937 S 6533 0 1 MIR33B,PEMT,RAI1,SMCR5,SREBF1,TOM1L2 MS17208 nsv523094 17 17355942 17371374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698786 S 2026 0 1 PEMT nsv907749 17 17357894 17389314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574905 S 6533 0 1 PEMT IS33665 nsv524158 17 17360924 17371374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700037 S 2026 0 1 PEMT nsv470579 17 17365057 17434535 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547460 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PEMT HGDP00825 nsv907750 17 17380183 17400905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549921,nssv1543720 M 6533 0 2 PEMT MS16153,MS18276 nsv833383 17 17405360 17449863 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453134,nssv1453135,nssv1453136 M 95 0 3 PEMT nsv833384 17 17432208 17586373 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453137 S 95 0 1 PEMT,RAI1 esv23671 17 17466317 17474510 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20304 S 451 1 0 "" NA18523 nsv1997 17 17466490 17499342 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6703 S 9 1 0 "" NA12156 nsv907751 17 17471279 17521909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501614 S 6533 1 0 "" SP50936 dgv3072n71 17 17509737 17723129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907752,nsv907754,nsv907753 M 6533 0 4 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 IS32841,IS37646,IS39417,MS21402 nsv907755 17 17521909 17551312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508602 S 6533 0 1 RAI1 SP54725 nsv827910 17 17524626 17527301 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422868 S 31 1 0 RAI1 NA18547 nsv833385 17 17534762 17706303 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453138 S 95 0 1 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 nsv827911 17 17539440 17540700 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429640 S 31 1 0 RAI1 NA18969 dgv3073n71 17 17560584 17693534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907757,nsv907756 M 6533 0 2 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 IS34304,MS10311 nsv522668 17 17560584 17693534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706072 S 2026 0 1 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 dgv3074n71 17 17560584 17743203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907758,nsv907759 M 6533 0 2 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 MS10123,MS13770 nsv9501 17 17563922 17569515 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27173 S 31 1 0 Samples from several populations that are part of the HapMap project. RAI1 NA18860 dgv3075n71 17 17590148 17743203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907762,nsv907761,nsv907760,nsv907765 M 6533 0 8 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 IS30197,IS33162,IS34005,IS35007,IS38463,IS39233,MS13095,MS15835 dgv3076n71 17 17614549 17695358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907763,nsv907764 M 6533 0 2 MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 SP54956,SP54988 nsv907766 17 17623209 17898073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557991,nssv1558724 M 6533 0 2 ATPAF2,C17orf39,LRRC48,MIR33B,RAI1,SMCR5,SREBF1,TOM1L2 MS23025,MS23495 nsv526904 17 17637480 17655826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703264 S 2026 0 1 RAI1,SREBF1 nsv817753 17 17637480 17655826 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417520 S 112 0 1 RAI1,SREBF1 NA18968 nsv907767 17 17649861 17674485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507587 S 6533 0 1 MIR33B,RAI1,SREBF1 SP54672 nsv907768 17 17649861 17688014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507421 S 6533 0 1 MIR33B,RAI1,SREBF1,TOM1L2 SP54725 nsv820244 17 17654892 17655550 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419044 S 2 0 1 RAI1,SREBF1 AK1 nsv513466 17 17675083 17675265 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625871 S 1 1 0 SREBF1 1 esv267802 17 17675103 17675188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517828,essv2519372 M 157 2 0 Samples from several populations that are part of the HapMap project. SREBF1 NA07346,NA12878 esv274268 17 17675103 17675188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581596 S 7 1 0 Samples from several populations that are part of the HapMap project. SREBF1 NA12878 nsv510701 17 17791199 17896210 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618941 S 4 0 1 ATPAF2,C17orf39,LRRC48,TOM1L2 NA10860 esv271669 17 17918927 17919088 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495241,essv2513183,essv2495788 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11992,NA12249 nsv907769 17 17941046 18004920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572694 S 6533 0 1 DRG2,MYO15A IS33162 nsv457697 17 17944570 17987015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534831 S 1557 0 1 DRG2,MYO15A NINDS_71 dgv3077n71 17 17944570 18038743 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907771,nsv907772,nsv907770 M 6533 0 3 ALKBH5,DRG2,MYO15A IS33684,IS37646,MS16153 nsv470580 17 17970582 18000917 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547461 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYO15A HGDP00825 nsv827912 17 17977471 17979714 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429751 S 31 1 0 MYO15A NA18969 nsv510702 17 17978401 18057526 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622715 S 4 0 1 ALKBH5,MYO15A NA18994 dgv3078n71 17 18040687 18146959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907774,nsv907775,nsv907773 M 6533 0 4 ALKBH5,FLII,LLGL1,SMCR7,TOP3A IS35605,IS41956,MS13011,MS20813 nsv9503 17 18062199 18109891 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28175 S 31 1 0 Samples from several populations that are part of the HapMap project. FLII,LLGL1,SMCR7 NA19221 nsv907776 17 18063210 18111673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510968 S 6533 0 1 FLII,LLGL1,SMCR7 SP54988 esv27526 17 18069164 18070260 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19055 S 451 0 1 LLGL1 NA18511 nsv907777 17 18071812 18103987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510186 S 6533 0 1 FLII,LLGL1 SP54956 nsv833386 17 18110986 18273451 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453139 S 95 1 0 EVPLL,LOC339240,SHMT1,SMCR8,TOP3A nsv833387 17 18140806 18318880 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453142,nssv1453140,nssv1453141 M 95 0 3 EVPLL,LOC339240,SHMT1,SMCR8,TOP3A nsv428333 17 18140806 18387109 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453311,nssv453317,nssv453323,nssv453332,nssv453312,nssv453326,nssv453328,nssv453324,nssv453327,nssv453306,nssv453307,nssv453315,nssv453314,nssv453320,nssv453309,nssv453310,nssv453322,nssv453321,nssv453316,nssv453305,nssv453325,nssv453318,nssv453313 M 62 23 0 CCDC144B,EVPLL,FAM106A,LGALS9C,LOC220594,LOC339240,SHMT1,SMCR8,TOP3A HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19189,NA19225,NA19257 esv1743367 17 18142469 18142469 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130259 S 2 1 0 TOP3A HuRef nsv521075 17 18161495 18167806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697770 S 2026 0 1 SMCR8 esv1004827 17 18168493 18174600 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565227 S 3 0 1 SHMT1,SMCR8 HuRef nsv509653 17 18172571 18250227 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621037,nssv619710,nssv623711 M 4 3 0 EVPLL,SHMT1 NA10860,NA15510,NA18994 dgv932e1 17 18175250 18387109 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14381,essv8868,essv8165,essv268,essv10490,essv21701,essv12387,essv492,essv14733,essv10218,essv8186,essv884,essv11134,essv16495,essv13687,essv24799,essv9199,essv8430,essv9648,essv10127,esv78,essv16455,essv16990,essv12199,essv4887,essv15043,essv18230,essv18405,essv8947,essv11534,essv12358,essv9317,essv12502,essv16334,essv13481,essv6618,essv13645,essv5439,essv10699,essv8349,essv23360,essv17127,essv9130,essv14121,essv15568,essv14979,essv14345,essv16809,essv14566,essv15702,essv7265,essv12723,essv9102,essv1463,essv2003,essv17948,essv2833,essv16076,essv2194,essv10532,essv11686,essv17556,essv178,essv15457,essv3097,essv10317,essv9690,essv371,essv21265 M 271 0 0 CCDC144B,EVPLL,FAM106A,LGALS9C,LOC220594,LOC339240,SHMT1 NA10855,NA10860,NA12003,NA12057,NA12248,NA12249,NA12750,NA12762,NA18501,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18561,NA18592,NA18621,NA18632,NA18853,NA18855,NA18858,NA18860,NA18861,NA18870,NA18872,NA18912,NA18913,NA18914,NA18944,NA18949,NA18952,NA18953,NA18960,NA18968,NA18969,NA18971,NA18978,NA19000,NA19101,NA19116,NA19119,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19139,NA19141,NA19144,NA19152,NA19154,NA19159,NA19171,NA19173,NA19192,NA19193,NA19194,NA19200,NA19202,NA19206,NA19207,NA19210,NA19211,NA19238,NA19240 nsv827913 17 18194510 18512847 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429862 S 31 1 0 CCDC144B,EVPLL,FAM106A,FOXO3B,LGALS9C,LOC220594,LOC339240,SHMT1,TBC1D28,ZNF286B NA18969 nsv1998 17 18195776 18232090 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5643,nssv9539,nssv10969,nssv1353,nssv6704 M 9 5 0 EVPLL,SHMT1 NA12156,NA15510,NA18507,NA19129,NA19240 nsv156 17 18207841 18232090 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv156 S 1 1 0 EVPLL NA15510 esv1003663 17 18208694 18209465 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565181 S 3 1 0 "" HuRef esv2604279 17 18210280 18213037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191171 S 1 0 1 "" NA18507 nsv833388 17 18215871 18395498 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453153,nssv1453143,nssv1453152,nssv1453150,nssv1453151,nssv1453149,nssv1453144,nssv1453154,nssv1453145,nssv1453148,nssv1453147,nssv1453146 M 95 0 12 CCDC144B,EVPLL,FAM106A,LGALS9C,LOC220594,LOC339240 nsv907778 17 18216572 18350034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592718 S 6533 1 0 EVPLL,LGALS9C,LOC339240 IS39243 nsv469661 17 18216697 18387102 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649590 M 265 33 0 Samples from several populations that are part of the HapMap project. CCDC144B,EVPLL,FAM106A,LGALS9C,LOC220594,LOC339240 nsv827914 17 18218898 18365568 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437816 S 31 1 0 EVPLL,LGALS9C,LOC220594,LOC339240 NA18949 esv24118 17 18230673 18246338 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13547 S 451 4 0 EVPLL NA18508,NA18858,NA19108,NA19129 nsv9504 17 18233618 19082613 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26650,nssv23551,nssv26763,nssv22849,nssv23664,nssv26813,nssv28177,nssv23973,nssv20899,nssv20929,nssv21281,nssv25418,nssv22162,nssv24679,nssv20989,nssv26752,nssv21311,nssv26804,nssv23747,nssv24309,nssv26058,nssv20795,nssv26676,nssv26038,nssv23774,nssv21019,nssv24153,nssv26774,nssv23455,nssv26741,nssv24929,nssv25368,nssv25393,nssv20800,nssv23579,nssv20869,nssv24335,nssv26018,nssv26796,nssv26637,nssv24954,nssv23972,nssv20959,nssv24127,nssv23272,nssv23483,nssv25629,nssv22222,nssv24698,nssv23300,nssv23946,nssv27183,nssv26824,nssv26793,nssv23819,nssv22857,nssv22886,nssv26624,nssv22192,nssv26835,nssv24724,nssv25473,nssv26663,nssv25652,nssv23636,nssv24775,nssv23608,nssv22918,nssv26785,nssv24672,nssv26826,nssv24750,nssv26815,nssv22889 M 31 24 24 Samples from several populations that are part of the HapMap project. CCDC144B,EPN2,EVPLL,FAM106A,FAM18B1,FAM83G,FBXW10,FOXO3B,GRAP,GRAPL,LGALS9C,LOC220594,LOC339240,PRPSAP2,SLC5A10,TBC1D28,TRIM16L,ZNF286B NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv3079n71 17 18257913 18386648 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907779,nsv907780 M 6533 2 0 CCDC144B,FAM106A,LGALS9C,LOC220594,LOC339240 MS17438,MS17697 esv26293 17 18261066 18263366 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13506 S 451 1 0 "" NA18858 nsv511594 17 18261149 18308015 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626223 S 1 0 1 LOC339240 1 nsv511593 17 18263074 18386251 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626222 S 1 0 1 CCDC144B,FAM106A,LGALS9C,LOC220594,LOC339240 1 nsv907781 17 18292126 18369142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508525 S 6533 0 1 FAM106A,LGALS9C,LOC220594 SP54604 nsv821444 17 18292834 18347736 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419923 S 1 0 1 LGALS9C NA10851 nsv442738 17 18296117 18405946 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CCDC144B,FAM106A,LGALS9C,LOC220594 esv29257 17 18296273 18346651 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19159 S 451 26 5 LGALS9C NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv511052 17 18302690 18397864 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622418 S 4 0 0 CCDC144B,FAM106A,LGALS9C,LOC220594 NA10860 nsv514828 17 18302826 18366016 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628281 S 1414 0 0 LGALS9C,LOC220594 nsv907782 17 18446401 18634765 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533040 S 6533 1 0 CCDC144B,FAM18B1,FBXW10,FOXO3B,TBC1D28,TRIM16L,ZNF286B MS10994 nsv499818 17 18463331 18670065 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585523 S 9 0 0 CCDC144B,FAM18B1,FBXW10,FOXO3B,TBC1D28,TRIM16L,ZNF286B esv29176 17 18469595 18491220 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11469,esv17897 M 451 6 0 CCDC144B,TBC1D28 NA18505,NA18511,NA18523,NA18858,NA18861,NA19147 nsv833389 17 18503339 18688049 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453155,nssv1453157,nssv1453156 M 95 3 0 FAM18B1,FBXW10,FOXO3B,TRIM16L,ZNF286B nsv523721 17 18503445 18858049 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699536 S 2026 1 0 FAM18B1,FAM83G,FBXW10,FOXO3B,PRPSAP2,SLC5A10,TRIM16L,ZNF286B esv3603 17 18533729 18534210 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26044 S 1 0 1 Single Asian sample YH "" YH esv27824 17 18534461 18539282 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20229 S 451 0 1 "" NA19225 nsv442412 17 18539508 18543256 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv22652 17 18546726 18551930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17520 S 451 0 1 "" NA18502 nsv112212 17 18570047 18578498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130790 M 24 TRIM16L esv1199476 17 18578211 18578527 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318371 S 2 0 1 TRIM16L HuRef nsv833390 17 18630950 18820419 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453158 S 95 0 1 FAM18B1,FAM83G,PRPSAP2,SLC5A10 nsv907783 17 18634765 18954494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599652 S 6533 1 0 FAM18B1,FAM83G,GRAP,PRPSAP2,SLC5A10 IS41747 nsv442413 17 18636432 18642948 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM18B1 dgv3080n71 17 18687901 18886060 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907784,nsv907785 M 6533 3 0 FAM83G,GRAP,PRPSAP2,SLC5A10 IS31117,IS36022,MS10994 nsv2000 17 18708790 18739268 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5645 S 9 1 0 PRPSAP2 NA19129 nsv512479 17 18731050 18732925 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625078 S 1 0 1 PRPSAP2 1 esv2533862 17 18731252 18733558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305132 S 1 0 1 PRPSAP2 NA18507 esv2279916 17 18731675 18733098 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584249 S 1 0 1 PRPSAP2 NA18507 esv1041467 17 18731878 18732903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771749 S 2 0 1 PRPSAP2 HuRef nsv112111 17 18731879 18732903 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130689 M 24 PRPSAP2 nsv833391 17 18750925 19082793 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453159 S 95 0 1 EPN2,FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 esv33572 17 18763085 19135083 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93347,essv98057,essv98467 M 51 3 0 EPN2,FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 22170,22259,22352 nsv525221 17 18765277 18781158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701307 S 2026 1 0 PRPSAP2 nsv907786 17 18765277 19077692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544173 S 6533 1 0 FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 MS16286 nsv457699 17 18771012 18831487 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534832 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM83G,PRPSAP2,SLC5A10 HGDP00582 nsv428336 17 18771277 19132640 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453356,nssv453350,nssv453355,nssv453348,nssv453347,nssv453354,nssv453351,nssv453346,nssv453357,nssv453349,nssv453358 M 62 9 2 EPN2,FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00478,HGDP00984,NA18498,NA19096,NA19108,NA19147 dgv933e1 17 18771341 19132640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23538,essv21296,essv23859,essv5298,essv8828,essv10449,essv18183,essv2983,essv11904,essv2610,essv11992,essv2477,essv909,essv5564,essv22561,essv8759,essv5216,essv9782,essv4193,essv8311,essv8237,essv9470,essv21053,essv12841,essv6835,essv566,essv6167,essv6582,essv22432,essv16518,essv5161,essv6720,essv6763,essv3876,essv5031,essv15224,essv14795,essv16013,essv4290,essv19659,essv8132,essv13165,essv3740,essv7700,essv7355,essv10256,essv11581,essv2885,essv13661,essv22684,essv6878,essv19211,esv448,essv5754,essv9370,essv13759,essv17104,essv19924,essv7185,essv14078,essv13023,essv9645,essv14299,essv6983,essv17618,essv21987,essv17192,essv9714,essv7563,essv12741,essv2312,essv1589,essv3982,essv17887,essv7817,essv3360,essv8443,essv240,essv2048,essv1202,essv11620,essv1384,essv5340,essv437,essv4166,essv17532,essv6327,essv2228,essv1156,essv9153,essv2647,essv10356,essv22294,essv168,essv14599,essv22437,essv318 M 271 0 0 EPN2,FAM83G,GRAP,GRAPL,PRPSAP2,SLC5A10 NA06985,NA06991,NA06993,NA07022,NA07348,NA10838,NA10855,NA10861,NA11995,NA12003,NA12057,NA12264,NA12752,NA12753,NA12761,NA12762,NA12813,NA18501,NA18502,NA18506,NA18508,NA18515,NA18516,NA18517,NA18526,NA18529,NA18532,NA18545,NA18547,NA18555,NA18558,NA18562,NA18563,NA18564,NA18570,NA18576,NA18579,NA18593,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18621,NA18624,NA18633,NA18853,NA18859,NA18860,NA18861,NA18863,NA18913,NA18914,NA18940,NA18942,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18964,NA18967,NA18968,NA18970,NA18971,NA18981,NA18990,NA18994,NA18998,NA18999,NA19000,NA19007,NA19092,NA19093,NA19094,NA19102,NA19103,NA19116,NA19119,NA19120,NA19141,NA19152,NA19153,NA19154,NA19159,NA19171,NA19172,NA19173,NA19194,NA19206,NA19208,NA19210 dgv3081n71 17 18774535 18886060 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907788,nsv907787 M 6533 2 0 FAM83G,GRAP,PRPSAP2,SLC5A10 IS36315,MS16126 esv259951 17 18786357 18786953 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399349,essv2399809 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19129 nsv470581 17 18791737 18858049 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547462 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM83G,SLC5A10 HGDP00582 nsv907789 17 18800424 18903368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546938,nssv1530880 M 6533 0 2 FAM83G,GRAP,SLC5A10 MS10311,MS17208 dgv3082n71 17 18820374 19040640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907793,nsv907792,nsv907791,nsv907790,nsv907794,nsv907796 M 6533 0 6 FAM83G,GRAP,GRAPL,SLC5A10 IS32737,IS32841,IS33162,IS38176,IS39233,MS18276 nsv907795 17 18832043 18886060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500482 S 6533 0 1 FAM83G,GRAP,SLC5A10 SP50159 esv1783904 17 18857636 18857636 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236114 S 2 1 0 SLC5A10 HuRef nsv7291 17 18857731 19080546 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9542,nssv2166 M 9 0 0 GRAP,GRAPL,SLC5A10 NA18507,NA18555 dgv3083n71 17 18858049 19015170 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907797,nsv907817,nsv907818,nsv907819,nsv907799,nsv907798,nsv907807 M 6533 0 18 GRAP,GRAPL,SLC5A10 IS36936,IS37609,IS39527,IS40318,IS40415,IS40799,MS18848,MS22568,SP50783,SP52139,SP52320,SP54049,SP54057,SP54782,SP55056,SP55764,SP56271,SP56330 dgv3084n71 17 18858049 19052580 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907811,nsv907801,nsv907821,nsv907813,nsv907802,nsv907814,nsv907824,nsv907803,nsv907829,nsv907812,nsv907808,nsv907800,nsv907809 M 6533 62 88 GRAP,GRAPL,SLC5A10 IS30129,IS30206,IS30317,IS30506,IS30590,IS30635,IS31193,IS32306,IS32704,IS32732,IS32803,IS32918,IS32944,IS32990,IS32998,IS33240,IS33340,IS33403,IS33494,IS33543,IS33689,IS33812,IS33959,IS34185,IS34491,IS34630,IS34648,IS34770,IS34895,IS35403,IS35691,IS35903,IS36330,IS36450,IS36752,IS37226,IS37353,IS37421,IS37480,IS38047,IS38063,IS38075,IS38193,IS38224,IS38335,IS38379,IS38439,IS38472,IS38515,IS38554,IS38594,IS38603,IS38658,IS39316,IS39372,IS39676,IS40003,IS40230,IS40302,IS40521,IS40840,IS40950,IS41243,IS41331,IS41410,IS41795,IS41837,IS41868,MS10102,MS10658,MS10685,MS10946,MS11333,MS11358,MS12724,MS12983,MS13744,MS13819,MS14353,MS14368,MS14374,MS14384,MS14810,MS14824,MS14940,MS15198,MS15359,MS15679,MS16016,MS16325,MS16419,MS16809,MS17113,MS17537,MS17562,MS17820,MS18392,MS18406,MS18407,MS18947,MS18970,MS19341,MS19503,MS20062,MS20236,MS20286,MS20830,MS21038,MS21457,MS21700,MS22112,MS23143,MS23227,MS23709,MS23886,MS24003,MS24265,MS24266,MS24350,MS24365,MS24623,MS24812,MS24932,MS25254,MS25734,MS26050,MS26119,SP50540,SP50633,SP50925,SP51261,SP52582,SP53440,SP54682,SP55005,SP55010,SP56396,SP56410,SP56458,SP56658,SP56690,SP57160,SP57600,SP57673,SP57925,SP58062,SP58241,SP81092,SP81191,SP81203 dgv3085n71 17 18858049 19077692 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907815,nsv907816,nsv907804 M 6533 10 0 GRAP,GRAPL,SLC5A10 IS34363,IS36412,IS39625,IS40039,IS40149,IS41919,MS11032,MS11823,MS17730,SP54833 nsv907805 17 18865850 18984915 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539060,nssv1581444,nssv1521855,nssv1535473,nssv1548323,nssv1542587,nssv1525477,nssv1533474,nssv1558244,nssv1550934,nssv1531828 M 6533 2 9 GRAP,GRAPL IS35573,MS10669,MS11194,MS12234,MS14093,MS15803,MS17802,MS18667,MS23178,SP52614,SP56633 dgv3086n71 17 18865850 19024528 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907823,nsv907810,nsv907820,nsv907806 M 6533 4 0 GRAP,GRAPL IS32819,MS11981,MS16477,SP57243 esv25927 17 18868400 19082043 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18226,esv13758,esv9766,esv21375,esv13526,esv11120 M 451 12 5 EPN2,GRAP,GRAPL NA06985,NA07045,NA11894,NA11995,NA12287,NA12828,NA18502,NA18508,NA18511,NA18517,NA18858,NA18861,NA19108,NA19114,NA19147,NA19240,NA19257 dgv3087n71 17 18886060 18999864 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907827,nsv907822 M 6533 2 3 GRAP,GRAPL IS30610,IS35545,IS35910,IS37062,IS38491 nsv907825 17 18886060 19046968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595888 S 6533 0 1 GRAP,GRAPL IS40349 nsv511054 17 18897287 18953384 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624351 S 4 0 0 "" NA18994 dgv3088n71 17 18903368 19004453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907828,nsv907826 M 6533 0 2 GRAPL MS17285,MS22611 dgv3089n71 17 18903368 19077692 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907831,nsv907830 M 6533 4 0 GRAPL IS31169,IS31396,IS39088,MS18620 nsv2001 17 18915293 19112404 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5646,nssv10113,nssv1357 M 9 0 3 EPN2,GRAPL NA18956,NA19129,NA19240 dgv3090n71 17 18954494 18991735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907832,nsv907833 M 6533 0 2 GRAPL SP52027,SP53060 dgv3091n71 17 18954494 18999864 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907841,nsv907834 M 6533 6 16 GRAPL IS30653,IS33129,IS34083,IS38522,IS38671,MS10356,MS12157,MS14247,MS15022,MS15925,MS16609,MS17221,MS18247,MS18652,MS20784,MS24672,MS25219,SP52243,SP52256,SP53994,SP54311,SP57742 nsv907835 17 18954494 19004453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561798 S 6533 1 0 GRAPL MS25227 nsv907836 17 18954494 19024528 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535062,nssv1596971,nssv1597220 M 6533 1 2 GRAPL IS40680,IS40775,MS11993 dgv3092n71 17 18954494 19046968 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907850,nsv907853,nsv907837,nsv907849,nsv907858 M 6533 14 58 GRAPL IS30174,IS30288,IS31133,IS31800,IS34482,IS34687,IS35329,IS35523,IS35605,IS36512,IS38119,IS38591,IS38743,IS39490,IS40446,IS40571,IS40890,MS10769,MS10784,MS11481,MS11760,MS12149,MS12555,MS12577,MS12634,MS12667,MS12876,MS13548,MS14345,MS15167,MS15628,MS16208,MS16415,MS17017,MS17385,MS17534,MS18149,MS18432,MS18756,MS19683,MS22836,MS23142,MS23356,MS23582,MS24193,MS24714,MS24864,MS25039,MS25327,MS25774,MS26140,SP50522,SP50749,SP50774,SP50872,SP51115,SP51226,SP51235,SP51259,SP52529,SP52829,SP54117,SP54164,SP54916,SP56370,SP56676,SP57070,SP57580,SP57831,SP80971,SP81119,SP81266 dgv3093n71 17 18954494 19046968 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907838,nsv907859 M 6533 2 0 GRAPL MS13757,SP54798 dgv3094n71 17 18954494 19052580 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907846,nsv907839,nsv907845,nsv907843,nsv907854 M 6533 0 11 GRAPL IS32727,IS40862,MS10714,MS11522,MS15658,MS16423,MS19006,MS23701,SP54226,SP54295,SP57771 dgv3095n71 17 18954494 19120783 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907855,nsv907856,nsv907840 M 6533 3 0 EPN2,GRAPL IS30406,IS38069,MS17872 dgv3096n71 17 18967888 19024528 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907842,nsv907848 M 6533 3 0 GRAPL IS32343,SP55150,SP57158 nsv907844 17 18969112 18991735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568414,nssv1552489,nssv1499160 M 6533 0 3 GRAPL IS31283,MS19458,SP50571 dgv3097n71 17 18969465 19024528 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907852,nsv907847 M 6533 4 2 GRAPL IS30766,IS33040,IS39626,IS40925,IS41193,MS24339 dgv3098n71 17 18971335 19024528 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907857,nsv907851 M 6533 0 2 GRAPL MS24854,MS25280 dgv3099n71 17 18984915 19040640 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907861,nsv907860 M 6533 9 5 GRAPL IS30165,IS30245,IS37909,MS10567,MS10686,MS12092,MS14287,MS14708,MS20997,MS23626,MS25406,SP52701,SP52851,SP54337 nsv833393 17 18990988 19205701 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453161,nssv1453162,nssv1453160 M 95 2 1 B9D1,EPN2,GRAPL,MIR1180 dgv3100n71 17 18991735 19052580 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907863,nsv907862 M 6533 4 0 GRAPL MS13451,MS15813,MS25197,SP53441 esv271226 17 19139426 19139511 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515528 S 157 1 0 Samples from several populations that are part of the HapMap project. EPN2 NA12815 nsv907864 17 19181565 19230745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510187 S 6533 0 1 B9D1,MAPK7,MFAP4,MIR1180 SP54956 nsv428337 17 19280637 19526366 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453359 S 62 0 1 ALDH3A2,SLC47A1,SLC47A2,SNORA59A,SNORA59B HGDP01093 nsv827915 17 19338553 19340494 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430240 S 31 0 1 "" NA18968 esv7325 17 19350745 19351099 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29766 S 1 0 1 "" SJK dgv934e1 17 19426327 19504358 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8668,essv8036,essv9269,essv13280,esv1057 M 271 0 0 ALDH3A2 NA19101,NA19103,NA19137,NA19201 dgv51n17 17 19429443 19486426 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437815,nsv437816 M 60 0 2 "" NA19103,NA19139 nsv521483 17 19434770 19435348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698094 S 2026 0 1 "" nsv528606 17 19434770 19436070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705232 S 2026 0 1 "" nsv817754 17 19434770 19436070 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416194,nssv1416205 M 112 0 2 "" NA19140,NA19142 nsv817755 17 19434770 19458360 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416977 S 112 0 1 "" NA19137 nsv9505 17 19434778 19436334 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23801 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 esv2421703 17 19440328 19479039 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057264,essv5119599,essv5062641,essv5142520,essv5143637,essv5097609,essv5037403,essv5134354,essv5112817,essv5061056,essv5098100,essv5049046,essv5034382,essv5129222,essv5053358,essv5117691,essv5114857,essv5128797,essv5140040,essv5084715,essv5073182,essv5092840,essv5066479,essv5145658,essv5049684,essv5063802,essv5051224,essv5156738,essv5115610,essv5142595,essv5071289,essv5079920,essv5037673,essv5074691,essv5146936,essv5108554,essv5069681,essv5125636,essv5082424,essv5021281,essv5057240,essv5072463,essv5154594,essv5016547,essv5057705,essv5048034,essv5125454,essv5085983,essv5073535,essv5126508,essv5030591,essv5007413,essv5074263,essv5014611,essv5123695,essv5084761 M 1184 0 56 "" NA12249,NA18487,NA18488,NA18501,NA18874,NA18910,NA18911,NA19031,NA19036,NA19038,NA19101,NA19103,NA19117,NA19137,NA19139,NA19141,NA19146,NA19174,NA19182,NA19201,NA19247,NA19315,NA19321,NA19372,NA19428,NA19429,NA19451,NA19452,NA19649,NA19703,NA19705,NA19708,NA19917,NA20359,NA20360,NA20363,NA20811,NA20850,NA20853,NA21103,NA21109,NA21308,NA21309,NA21316,NA21352,NA21367,NA21378,NA21424,NA21486,NA21487,NA21519,NA21608,NA21614,NA21678,NA21717,NA21718 nsv442739 17 19440328 19479039 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514829 17 19440784 19478204 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628282 S 1414 0 1 "" nsv9506 17 19443277 19450888 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26688 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv516254 17 19456287 19458360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685813,nssv654610,nssv691848,nssv689485,nssv667086,nssv660271,nssv662696,nssv676078,nssv691379,nssv673965,nssv676904,nssv687445 M 2026 0 12 "" dgv362n27 17 19456287 19478062 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457702,nsv457703,nsv457701 M 1557 0 3 "" HGDP00459,HGDP00470,HGDP01387 esv1623912 17 19460542 19460542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019127 S 2 1 0 "" HuRef esv2558706 17 19483207 19484900 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255491 S 1 0 1 "" NA18507 esv2107222 17 19483824 19484524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901513 S 1 0 1 "" NA18507 esv4573 17 19483961 19484436 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27014 S 1 0 1 Single Asian sample YH "" YH nsv907865 17 19499314 19516313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590059 S 6533 0 1 ALDH3A2 IS38454 esv4947 17 19512473 19513009 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27388 S 1 0 1 Single Asian sample YH ALDH3A2 YH dgv3101n71 17 19523125 19638568 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907866,nsv907867 M 6533 0 6 ALDH3A1,SLC47A2,ULK2 IS32841,IS33684,IS34304,IS38176,MS16153,MS17208 nsv526290 17 19553949 19592074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702571 S 2026 0 1 ALDH3A1,SLC47A2 nsv457704 17 19561069 19604339 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534836 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH3A1 HGDP00961 nsv470582 17 19561069 19604339 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547464,nssv547463,nssv547465 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH3A1 HGDP00302,HGDP00550,HGDP00657 nsv112170 17 19596078 19602940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130748 M 24 "" esv22998 17 19596558 19603056 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13337 S 451 2 0 "" NA18861,NA19225 nsv510435 17 19661548 19667548 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622272,nssv618425 M 4 0 2 ULK2 CHM,NA10860 nsv2002 17 19689156 19704946 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2962 S 9 1 0 ULK2 NA18555 esv2649888 17 19699993 19701518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296636 S 1 0 1 ULK2 NA18507 nsv907868 17 19709516 20157714 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543093 S 6533 1 0 AKAP10,SPECC1,ULK2 MS16042 nsv518888 17 19730045 19744839 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694285 S 2026 1 0 "" esv25814 17 19731715 19739507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10513 S 451 0 1 "" NA19129 nsv907869 17 19736366 19867428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524100 S 6533 0 1 AKAP10,SPECC1 SP54845 nsv833394 17 19768306 19940169 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453163 S 95 1 0 AKAP10,SPECC1 nsv507837 17 19776000 19782000 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623222 S 4 1 0 AKAP10 NA18994 esv1070888 17 19795077 19795171 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956345 S 2 0 1 AKAP10 HuRef nsv907870 17 19812514 19942204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570584 S 6533 1 0 AKAP10,SPECC1 IS32167 nsv907871 17 19868291 20029084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599002 S 6533 0 1 SPECC1 IS41202 nsv907872 17 19886433 19936732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502268 S 6533 0 1 SPECC1 SP51082 nsv833395 17 19910551 20064676 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453164 S 95 0 1 SPECC1 nsv833396 17 19969775 20091400 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453165 S 95 1 0 SPECC1 nsv2003 17 19986898 20031245 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2167 S 9 0 1 SPECC1 NA18555 esv271574 17 20098622 20098967 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500942,essv2505960,essv2499025 M 157 3 0 Samples from several populations that are part of the HapMap project. SPECC1 NA18856,NA18861,NA19114 nsv520772 17 20125093 20463036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697601 S 2026 0 1 CCDC144C,CDRT15L2,KRT16P3,LGALS9B,SPECC1 esv2102373 17 20138360 20138799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4988282 S 1 0 1 SPECC1 NA18507 nsv521025 17 20138616 20455513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697741 S 2026 1 0 CCDC144C,CDRT15L2,KRT16P3,LGALS9B,SPECC1 esv32786 17 20160026 20234600 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101550,essv97608,essv93867,essv100659,essv96782,essv101100,essv95168,essv94673,essv94027,essv96931,essv97925,essv95469,essv93069,essv95340,essv97401,essv101693,essv95900,essv94534,essv99065,essv92898,essv92809,essv93734,essv96129,essv96705,essv96009,essv93576,essv93307,essv94916,essv92602,essv98022,essv96437,essv97783,essv100176,essv100620,essv100301,essv98399,essv96336 M 51 1 36 CCDC144C 21603,21616,21634,21656,21659,21693,21721,21791,21802,21817,21837,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22127,22128,22170,22231,22233,22259,22261,22278,22286,22298,22300,22352,22371 nsv471495 17 20162001 20404817 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547829,nssv547830,nssv547828 M 3 CCDC144C,KRT16P3,LGALS9B nsv469852 17 20185619 20373865 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649873 M 265 0 0 Samples from several populations that are part of the HapMap project. CCDC144C,KRT16P3,LGALS9B nsv833397 17 20185620 20373865 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453172,nssv1453171,nssv1453168,nssv1453166,nssv1453167,nssv1453170,nssv1453169 M 95 0 7 CCDC144C,KRT16P3,LGALS9B nsv2004 17 20209466 20241469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6707 S 9 1 0 CCDC144C NA12156 dgv935e1 17 20227887 20422653 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18225,essv14308,essv15114,essv2227 M 271 0 0 CCDC144C,KRT16P3,LGALS9B NA12057,NA18960,NA19129,NA19194 nsv428338 17 20227887 20422653 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453363,nssv453365 M 62 2 0 CCDC144C,KRT16P3,LGALS9B HGDP00476,HGDP01093 dgv936e1 17 20227887 20640432 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv442,essv2070 M 271 0 0 CCDC144C,CDRT15L2,KRT16P3,LGALS9B NA18949 nsv833398 17 20236818 20342622 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453176,nssv1453190,nssv1453182,nssv1453174,nssv1453173,nssv1453175,nssv1453177,nssv1453178,nssv1453181,nssv1453179,nssv1453184,nssv1453180,nssv1453183,nssv1453189,nssv1453185,nssv1453188,nssv1453187,nssv1453186,nssv1453191,nssv1453192,nssv1453195,nssv1453193,nssv1453194 M 95 0 23 CCDC144C,LGALS9B nsv2005 17 20238037 20282814 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7314 S 9 0 1 CCDC144C NA12156 nsv511599 17 20281117 20316618 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626228 S 1 0 1 LGALS9B 1 nsv833399 17 20282299 20448380 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453204,nssv1453212,nssv1453209,nssv1453208,nssv1453200,nssv1453213,nssv1453203,nssv1453214,nssv1453205,nssv1453215,nssv1453207,nssv1453196,nssv1453202,nssv1453216,nssv1453211,nssv1453206,nssv1453198,nssv1453201,nssv1453210,nssv1453197,nssv1453199 M 95 0 21 CDRT15L2,KRT16P3,LGALS9B nsv821555 17 20284345 20336480 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419924 S 1 0 1 LGALS9B NA10851 esv23447 17 20285952 20432628 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15317,esv16898,esv17385,esv14331,esv20106,esv20964,esv12972 M 451 27 7 CDRT15L2,KRT16P3,LGALS9B NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9507 17 20286103 20373065 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26096,nssv25696,nssv20830,nssv26077,nssv27193,nssv23356,nssv24029,nssv23511,nssv22282,nssv23749,nssv24825,nssv25519,nssv20825,nssv24705,nssv26908,nssv26837,nssv24361,nssv22252,nssv24205,nssv22947,nssv23539,nssv24979,nssv21341,nssv25674,nssv23414,nssv23607,nssv21049,nssv26699,nssv26818,nssv23722,nssv24800,nssv23828,nssv23846,nssv22915,nssv23328,nssv23873,nssv24057,nssv24030,nssv26807,nssv25029,nssv24387,nssv25496,nssv22878,nssv22976,nssv24179,nssv26115,nssv26740,nssv25004 M 31 19 25 Samples from several populations that are part of the HapMap project. KRT16P3,LGALS9B NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 dgv3102n71 17 20291560 20490842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907873,nsv907874 M 6533 0 2 CDRT15L2,KRT16P3,LGALS9B IS30435,IS35428 nsv471392 17 20293768 20311440 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548150,nssv548151,nssv548152 M 3 LGALS9B nsv907875 17 20308829 20567832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540404 S 6533 1 0 CDRT15L2,KRT16P3,LGALS9B MS14828 nsv827916 17 20320422 20383037 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429973 S 31 1 0 KRT16P3 NA18969 dgv3103n71 17 20347741 20490842 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv907876,nsv907877 M 6533 2 10 CDRT15L2,KRT16P3 IS31441,IS35421,IS37645,IS38659,IS39330,IS41180,IS41703,IS41768,MS12718,MS18432,MS25471,SP56842 dgv3104n71 17 20358567 20496322 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907878,nsv907879 M 6533 0 13 CDRT15L2 IS30564,IS30883,IS31369,IS32666,IS33675,IS34489,IS34970,IS38129,IS38162,IS39258,MS18195,MS23587,SP56894 dgv3105n71 17 20358567 20554234 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907881,nsv907880,nsv907882 M 6533 4 0 CDRT15L2 SP54894,SP55966,SP57485,SP80917 essv13903 17 20380658 20640432 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CDRT15L2 NA18854 nsv9508 17 20380721 20398768 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27203,nssv26751,nssv23005,nssv26829,nssv28179 M 31 3 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA18860,NA18972,NA19132,NA19221 nsv510703 17 20382145 20508829 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618942 S 4 0 1 CDRT15L2 NA10860 esv1997360 17 20400505 20400914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548141 S 1 0 1 "" NA18507 esv4393 17 20400620 20401191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26834 S 1 0 1 Single Asian sample YH "" YH esv268842 17 20402105 20402190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515381,essv2514342 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12874 esv1586990 17 20402138 20402138 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736338 S 2 1 0 "" HuRef esv2751619 17 20403500 20854748 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981839,essv6981838,essv6985677 M 771 1 0 CCDC144NL,CDRT15L2,USP22 BEC_492 nsv457705 17 20424474 20468310 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534837 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDRT15L2 HGDP00208 nsv907883 17 20427639 20554234 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524145 S 6533 1 0 "" SP54861 nsv833400 17 20438273 20590250 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453218,nssv1453217 M 95 0 2 "" esv33952 17 20458283 20458705 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93199 S 51 1 0 "" 22170 esv1669338 17 20468340 20468340 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118892 S 2 1 0 "" HuRef nsv469647 17 20492845 20692330 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649574 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv9509 17 20541489 20547490 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24850,nssv27213,nssv25748 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA19173,NA19240 esv23818 17 20542403 20577489 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15870,esv16403,esv15271,esv21131,esv13905 M 451 6 0 "" NA18511,NA18858,NA18907,NA19108,NA19129,NA19240 esv2431843 17 20550451 20555583 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260176 S 1 0 1 "" NA18507 esv2368994 17 20551466 20555281 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922151 S 1 0 1 "" NA18507 nsv514830 17 20553632 20554258 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627172 S 1414 0 0 "" nsv907884 17 20554234 20656318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597796 S 6533 0 1 "" IS41317 nsv9510 17 20571124 20579369 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23033,nssv25054,nssv23442,nssv25770,nssv27223 M 31 4 1 Samples from several populations that are part of the HapMap project. "" NA10863,NA18853,NA18860,NA19144,NA19240 esv26460 17 20619355 20620809 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19602 S 451 0 3 "" NA18523,NA19108,NA19257 nsv9511 17 20620424 20629391 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23900 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 nsv9512 17 20643647 20649720 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25792,nssv23470,nssv23091,nssv25079,nssv27233 M 31 4 1 Samples from several populations that are part of the HapMap project. "" NA10863,NA18853,NA18860,NA19144,NA19240 esv32971 17 20644164 20646285 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101478,essv95061,essv100480 M 51 0 3 "" 21603,21721,22298 esv24431 17 20711225 20713920 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20326 S 451 0 1 CCDC144NL NA19108 nsv457706 17 20755358 20812923 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534838 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00099 nsv527161 17 20755358 20812923 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703555 S 2026 1 0 "" esv23922 17 20763592 20766363 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17086 S 451 0 3 "" NA18505,NA18916,NA19114 nsv2006 17 20787355 20833322 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6708 S 9 0 1 "" NA12156 nsv827917 17 20836692 20902369 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430084 S 31 1 0 USP22 NA18969 esv2103773 17 20872666 20873073 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551941 S 1 0 1 USP22 NA18507 dgv515n67 17 20881719 20891748 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827921,nsv827918 M 31 2 0 USP22 AK10,AK6 esv28319 17 20885725 20887805 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15620 S 451 0 1 USP22 NA18511 esv1007487 17 20922580 20926305 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565637 S 3 1 0 "" HuRef nsv827922 17 20940878 20944594 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430969 S 31 1 0 "" AK16 nsv907885 17 21041161 21145470 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526528 S 6533 1 0 C17orf103,MAP2K3,TMEM11 SP57610 nsv907886 17 21067680 21194354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530881 S 6533 0 1 C17orf103,MAP2K3 MS10311 nsv907887 17 21070496 21138711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501125 S 6533 1 0 C17orf103,MAP2K3 SP50711 nsv907888 17 21134211 21293006 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545977 S 6533 1 0 KCNJ12,KCNJ18,MAP2K3 MS17085 nsv907889 17 21134211 21609936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592719 S 6533 1 0 C17orf51,KCNJ12,KCNJ18,MAP2K3 IS39243 esv2640649 17 21136042 21165252 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263569 S 1 1 0 MAP2K3 NA18507 nsv511592 17 21142828 21154846 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626220 S 1 0 1 MAP2K3 1 nsv436843 17 21150117 22331583 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465602 S 2 1 0 Samples from several populations that are part of the HapMap project. C17orf51,FAM27L,FLJ36000,KCNJ12,KCNJ18,MAP2K3,MTRNR2L1 NA18505 nsv435679 17 21153008 21163779 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465603 S 2 0 1 MAP2K3 NA15510 nsv512480 17 21153143 21161985 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625079 S 1 0 1 MAP2K3 1 esv2484557 17 21153192 21162716 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349236 S 1 0 1 MAP2K3 NA18507 nsv436229 17 21159943 21162130 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465604 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2642206 17 21165252 21186323 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200510 S 1 1 0 "" NA18507 esv2629957 17 21173942 21175123 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367746 S 1 0 1 "" NA18507 esv1930915 17 21174187 21174655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860190 S 1 0 1 "" NA18507 dgv937e1 17 21191534 22014559 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv556,essv2199 M 271 0 0 C17orf51,FAM27L,FLJ36000,KCNJ12,KCNJ18,MTRNR2L1 NA18960 nsv907890 17 21195296 21233445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501818 S 6533 1 0 KCNJ12 SP50711 nsv907891 17 21195296 21260066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600540,nssv1530882 M 6533 0 2 KCNJ12,KCNJ18 IS41894,MS10311 dgv363n27 17 21196002 21377174 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457710,nsv457708,nsv457711 M 1557 3 0 C17orf51,KCNJ12,KCNJ18 HGDP00800,HGDP01099,HGDP01166 nsv2007 17 21200102 21201525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4255 S 9 1 0 "" NA12878 nsv457709 17 21202153 21243600 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534841 S 1557 1 0 KCNJ12 1780854462_A nsv526270 17 21224816 21233445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702544 S 2026 0 1 KCNJ12 esv34477 17 21242033 21449435 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980140,essv6987015,essv6980139 M 771 1 0 C17orf51,KCNJ12,KCNJ18 NA18960 nsv827923 17 21246134 21247303 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430195 S 31 1 0 KCNJ12 NA18969 esv33687 17 21257924 21260682 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96670 S 51 1 0 KCNJ12,KCNJ18 22011 nsv511597 17 21259414 21262028 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626226 S 1 0 1 KCNJ12,KCNJ18 1 esv2498808 17 21261408 21264328 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237759 S 1 0 1 KCNJ12 NA18507 esv2262583 17 21261669 21263559 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774404 S 1 0 1 KCNJ12 NA18507 nsv512481 17 21261838 21266717 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625080 S 1 0 1 KCNJ12 1 esv7290 17 21261867 21263408 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29731 S 1 0 1 KCNJ12 SJK nsv112112 17 21261871 21263413 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130690 M 24 KCNJ12 nsv2008 17 21270135 21289534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2168 S 9 1 0 "" NA18555 dgv3106n71 17 21271558 21480206 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907902,nsv907907,nsv907898,nsv907893,nsv907892,nsv907899,nsv907906 M 6533 8 0 C17orf51 MS14696,MS22273,MS24139,MS25675,SP54535,SP54812,SP55302,SP57518 nsv907894 17 21271967 21473444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517226 S 6533 0 1 C17orf51 SP57217 dgv52n16 17 21274052 22350220 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435686,nsv435678,nsv436224 M 2 0 2 C17orf51,FAM27L,FLJ36000,MTRNR2L1 NA15510,NA18505 dgv3107n71 17 21281408 21346948 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907895,nsv907904 M 6533 3 0 "" SP50081,SP53320,SP54356 dgv3108n71 17 21281408 21369345 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907905,nsv907896,nsv907901,nsv907900 M 6533 6 0 "" IS33543,IS34912,IS37456,MS23189,MS24011,MS25633 nsv907897 17 21281408 21419097 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503734 S 6533 1 0 C17orf51 SP52095 esv32532 17 21283925 21471926 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101173 S 51 0 1 C17orf51 21618 esv2131086 17 21285198 21285587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915526 S 1 0 1 "" NA18507 nsv907903 17 21293006 21480206 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597514,nssv1540928,nssv1547982,nssv1535829,nssv1536759,nssv1548424,nssv1532093,nssv1562091 M 6533 5 3 C17orf51 IS40838,MS10714,MS12506,MS12946,MS15092,MS17665,MS17830,MS25369 esv23282 17 21301640 21302830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15568 S 451 0 1 "" NA19108 esv2751620 17 21308497 21459693 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989311,essv6982537 M 771 0 1 C17orf51 BEC_565 nsv9514 17 21310379 21316114 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24875,nssv28181,nssv25104 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA19144,NA19173,NA19221 esv2640669 17 21310515 21313827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214796 S 1 0 1 "" NA18507 esv2074252 17 21310784 21312901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522942 S 1 0 1 "" NA18507 nsv517456 17 21314071 21430683 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652509,nssv662320,nssv696516,nssv652066,nssv679358,nssv654861,nssv675465,nssv652958,nssv681830,nssv690069,nssv672048,nssv673947 M 2026 5 7 C17orf51 nsv817756 17 21314071 21430683 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417480 S 112 1 0 C17orf51 NA18960 dgv3109n71 17 21319218 21609936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907911,nsv907908 M 6533 0 2 C17orf51 IS41982,MS22465 nsv833401 17 21324678 21476421 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453220,nssv1453219 M 95 2 0 C17orf51 dgv3110n71 17 21328540 21480206 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907912,nsv907910,nsv907909 M 6533 3 0 C17orf51 MS17130,SP53998,SP81263 nsv2009 17 21345725 21385241 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7315 S 9 0 1 C17orf51 NA12156 nsv9515 17 21355507 21357470 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28213 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv995592 17 21356880 21356880 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569185 S 3 1 0 "" HuRef nsv9516 17 21367333 21368822 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24056 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv907913 17 21369345 21609936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545978 S 6533 1 0 C17orf51 MS17085 nsv9517 17 21386258 21390129 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26134,nssv26919,nssv23119 M 31 0 3 Samples from several populations that are part of the HapMap project. C17orf51 NA10863,NA18504,NA18517 nsv9518 17 21410935 21418923 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27243,nssv26906,nssv24413,nssv24930,nssv23927,nssv28215 M 31 5 1 Samples from several populations that are part of the HapMap project. "" NA10839,NA12740,NA18502,NA18860,NA19173,NA19221 esv28894 17 21417034 21417694 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9872 S 451 2 0 "" NA18511,NA18907 nsv9519 17 21423419 21424656 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26917,nssv24955 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA19173 esv2751621 17 21437192 22069633 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987620,essv6984551,essv6984552,essv6984553,essv6987621 M 771 1 0 FAM27L,FLJ36000,MTRNR2L1 BEC_718 esv25812 17 21455110 21456418 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15166 S 451 0 1 "" NA12776 dgv3111n71 17 21468655 21772409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907914,nsv907915,nsv907921,nsv907922,nsv907932,nsv907934,nsv907933,nsv907917,nsv907918,nsv907916,nsv907920,nsv907919 M 6533 20 0 FAM27L IS30340,IS31063,IS31234,IS32777,IS32803,IS33070,IS33239,IS34185,IS35487,IS37784,IS38008,IS38016,IS38184,IS38660,IS39516,IS39626,IS39656,IS41831,IS41840,SP81485 dgv3112n71 17 21468655 21864298 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907935,nsv907923 M 6533 4 0 FAM27L,FLJ36000 IS35205,IS35682,IS37577,IS41803 dgv3113n71 17 21468655 21967881 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907925,nsv907924 M 6533 2 0 FAM27L,FLJ36000,MTRNR2L1 IS40685,IS41113 dgv3114n71 17 21468655 22177957 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907926,nsv907938,nsv907937,nsv907927,nsv907928 M 6533 10 0 FAM27L,FLJ36000,MTRNR2L1 IS30206,IS31044,IS34964,IS35244,IS36170,IS36219,IS37172,IS37789,IS38694,MS10465 dgv3115n71 17 21468655 22296891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907930,nsv907929,nsv907982,nsv907972,nsv907939,nsv907973,nsv907956 M 6533 9 0 FAM27L,FLJ36000,MTRNR2L1 IS30838,IS31656,IS31879,IS32893,IS34630,IS34658,IS35782,IS37778,MS22166 esv26859 17 21473391 21507142 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13577,esv14649,esv10107 M 451 8 0 "" NA07045,NA11931,NA18511,NA18858,NA18861,NA19129,NA19190,NA19240 nsv511583 17 21473601 21506619 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626211 S 1 0 1 "" 1 nsv516664 17 21480206 22166482 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670000,nssv694904,nssv678457 M 2026 2 1 FAM27L,FLJ36000,MTRNR2L1 nsv470584 17 21480206 22166483 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547466,nssv547469,nssv547471,nssv547470 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM27L,FLJ36000,MTRNR2L1 HGDP00290,HGDP00298,HGDP00302 nsv821060 17 21488000 21507142 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419925 S 1 1 0 "" NA10851 esv1006807 17 21497310 21498660 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575043 S 3 0 1 "" HuRef nsv907931 17 21504056 21722633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569485 S 6533 0 1 "" IS31581 dgv3116n71 17 21504056 22116859 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv907965,nsv907936 M 6533 0 2 FAM27L,FLJ36000,MTRNR2L1 IS30412,IS33123 esv22292 17 21607238 21609781 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18198 S 451 5 0 "" NA11931,NA18858,NA18861,NA19190,NA19240 nsv820340 17 21607238 21609781 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419927 S 1 1 0 "" NA10851 dgv3117n71 17 21609936 21759399 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907940,nsv907957,nsv907966,nsv907961,nsv907942,nsv907941,nsv907964,nsv907963,nsv907959,nsv907958,nsv907943 M 6533 18 0 FAM27L IS30308,IS30742,IS34141,IS35142,IS35853,IS36412,IS36612,IS37964,IS38002,IS38303,IS38351,IS39356,IS40169,IS40415,IS40475,MS14210,MS16707,SP57021 dgv3118n71 17 21609936 21824876 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907948,nsv907949,nsv907944,nsv907960,nsv907946,nsv907945,nsv907947 M 6533 7 0 FAM27L IS30041,IS31123,IS34020,IS34257,IS36153,IS40660,IS41112 dgv3119n71 17 21609936 21891848 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907950,nsv907962 M 6533 2 0 FAM27L,FLJ36000 IS35229,IS38522 dgv3120n71 17 21609936 22034311 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907951,nsv907979 M 6533 2 0 FAM27L,FLJ36000,MTRNR2L1 IS30301,IS35388 dgv3121n71 17 21609936 22180403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907954,nsv907985,nsv907953,nsv907955,nsv907978,nsv907981,nsv907980,nsv907952,nsv907971 M 6533 13 0 FAM27L,FLJ36000,MTRNR2L1 IS30530,IS34383,IS36726,IS37043,IS37068,IS37139,IS38455,IS38496,IS40769,IS40812,IS40925,MS12281,SP50023 nsv9520 17 21617211 21629188 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24731 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 essv4843 17 21624144 21841587 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM27L,FLJ36000 NA18540 essv886 17 21624144 21939036 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM27L,FLJ36000 NA19000 nsv827924 17 21625382 21643375 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432498 S 31 1 0 "" AK20 nsv833402 17 21625568 21817779 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453221 S 95 0 1 FAM27L dgv364n27 17 21628545 22166482 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457713,nsv457712,nsv457714 M 1557 3 0 FAM27L,FLJ36000,MTRNR2L1 HGDP00290,HGDP00298,HGDP00302 esv2751622 17 21641572 22069633 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983317,essv6988654,essv6983319,essv6983318 M 771 1 0 FAM27L,FLJ36000,MTRNR2L1 BEC_637 dgv3122n71 17 21641834 21772409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907968,nsv907969,nsv907967 M 6533 3 0 FAM27L IS38313,IS39321,SP56513 nsv907970 17 21654390 21805574 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582753,nssv1578103 M 6533 1 1 FAM27L IS34659,IS36131 nsv457715 17 21654390 21954150 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534847 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM27L,FLJ36000,MTRNR2L1 HGDP00264 dgv3123n71 17 21676722 21772409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907975,nsv907974 M 6533 2 0 FAM27L IS40524,MS25308 dgv3124n71 17 21676722 21967881 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907977,nsv907984,nsv907983,nsv907976 M 6533 4 0 FAM27L,FLJ36000,MTRNR2L1 IS30141,IS30564,IS35127,IS38148 nsv9521 17 21681992 21723721 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26762 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv817757 17 21688485 21709366 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417453 S 112 0 1 "" NA18953 esv22244 17 21715945 21720968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15897 S 451 0 34 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv516n67 17 21717417 21720632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827925,nsv827926 M 31 0 6 "" AK12,AK16,NA18537,NA18947,NA18972,NA18999 nsv827927 17 21717798 21719611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425375 S 31 0 1 "" AK2 nsv833404 17 21718878 21834063 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453222,nssv1453226,nssv1453229,nssv1453223,nssv1453225,nssv1453224,nssv1453227,nssv1453228,nssv1453230,nssv1453236,nssv1453233,nssv1453231,nssv1453232,nssv1453235,nssv1453234 M 95 0 15 FAM27L,FLJ36000 nsv833405 17 21733030 21841527 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453238,nssv1453237 M 95 1 1 FAM27L,FLJ36000 dgv938e1 17 21733030 21841587 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14312,essv8750,essv10318,essv18697 M 271 0 0 FAM27L,FLJ36000 NA12874,NA18506,NA19092,NA19194 nsv428339 17 21733030 21939036 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453368,nssv453366,nssv453367,nssv453369 M 62 4 0 FAM27L,FLJ36000 HGDP00460,HGDP00467,NA19096,NA19181 dgv939e1 17 21733030 22014559 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9915,essv8489,essv12303,essv16526,essv14610,essv12807,essv5287,essv15256,essv16671,essv17027,essv11495,essv12693,essv11124,essv12999,essv22901,essv25019,essv9132,essv11029,essv17200,essv3801,essv14704,essv224,essv16048,essv11954,essv22235,essv16400 M 271 0 0 FAM27L,FLJ36000,MTRNR2L1 NA10839,NA12044,NA12760,NA18500,NA18501,NA18502,NA18516,NA18624,NA18859,NA18860,NA18943,NA18948,NA19093,NA19094,NA19120,NA19138,NA19139,NA19142,NA19143,NA19144,NA19145,NA19159,NA19171,NA19173,NA19210,NA19211 nsv9522 17 21742564 21744586 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26928 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv9523 17 21748059 21755923 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28217 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM27L NA19221 nsv907986 17 21772523 21956604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575470 S 6533 0 1 FLJ36000,MTRNR2L1 IS33747 esv2277228 17 21773406 21775467 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703714 S 1 0 1 "" NA18507 dgv3125n71 17 21794095 21919904 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907988,nsv907987 M 6533 2 0 FLJ36000 IS31330,IS39243 dgv3126n71 17 21794095 22180403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907989,nsv907990 M 6533 2 0 FLJ36000,MTRNR2L1 IS31063,MS21118 dgv940e1 17 21798167 21939036 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10000,essv15321 M 271 0 0 FLJ36000 NA18862,NA19099 nsv2011 17 21817636 21843897 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10114,nssv9543,nssv10115,nssv9544,nssv2169,nssv1360,nssv1359,nssv5648,nssv6713,nssv6712,nssv9322,nssv9323,nssv10971,nssv10970,nssv2170,nssv5647,nssv4258,nssv6709,nssv4257 M 9 9 0 FLJ36000 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv158 17 21818891 21827577 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv158 S 1 1 0 "" NA15510 nsv435685 17 21823897 21829425 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465608 S 2 0 1 FLJ36000 NA15510 nsv820960 17 21824280 21834604 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419928 S 1 1 0 FLJ36000 NA10851 dgv3127n71 17 21824876 21967881 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv907992,nsv907991 M 6533 3 0 FLJ36000,MTRNR2L1 IS34020,IS39516,IS41898 nsv9525 17 21824915 21842352 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26930,nssv28219,nssv24757,nssv24980,nssv25129,nssv22312,nssv27253,nssv26939,nssv22907,nssv25542,nssv24083,nssv23954,nssv22944,nssv24439,nssv21109 M 31 13 2 Samples from several populations that are part of the HapMap project. FLJ36000 NA07029,NA10839,NA11830,NA12155,NA12740,NA18502,NA18517,NA18572,NA18860,NA18942,NA18975,NA18980,NA19144,NA19173,NA19221 nsv499235 17 21825715 21836586 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585609 S 9 1 0 FLJ36000 esv27419 17 21825989 21833919 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14917 S 451 19 4 FLJ36000 NA07037,NA07045,NA11995,NA12006,NA12489,NA12776,NA12828,NA15510,NA18502,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19225,NA19240,NA19257 esv1239829 17 21827694 21828055 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651290 S 2 0 1 "" HuRef nsv159 17 21828960 21832872 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv159 S 1 1 0 FLJ36000 NA15510 nsv457716 17 21833397 21992219 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534848 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ36000,MTRNR2L1 HGDP01053 nsv907993 17 21844527 22093423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581021 S 6533 1 0 MTRNR2L1 IS35487 dgv3128n71 17 21845830 22177957 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908006,nsv907998,nsv908002,nsv907999,nsv907995,nsv908005,nsv908001,nsv907994,nsv908000 M 6533 10 0 MTRNR2L1 IS30340,IS34659,IS35853,IS36153,IS37784,IS40524,IS41803,IS41831,MS22928,SP57021 dgv941e1 17 21850381 22014559 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16130,essv20172,essv9226,essv825,essv10923,essv8808,essv10433,essv8419,essv20240,essv11195,essv250,essv20789,essv3016,essv19556,essv11681,essv19616,essv10347,essv4007,essv7105,essv24773,essv9999,essv2461,essv15888,essv4732,essv7547,essv4452,essv20370,essv16439,essv7814,essv21758,essv20333,essv23599,essv6718,essv1259,essv19774,essv5036,essv7425,essv23662,essv5383,essv11823,essv16628,essv2331,essv4408,essv15048,essv14533,essv14371,essv5245,essv9942,essv5194,essv16535,essv20054,essv4221,essv18586,essv4075,essv19459,essv16852,essv19226,essv20925,essv13460,essv4967,essv13062,essv9373,essv7029,essv15611,essv13842,essv24511,essv11521,essv11048,essv23063,essv19935,essv8371,essv9418,essv14195,essv23943,essv12998,essv24823,essv18151,essv9806,essv21991,essv15617,essv18317,essv17213,essv9725,essv5511,essv12356,essv11857,essv12497,essv3402,essv12220,essv13551,essv24128,essv13621,essv12646,essv464,essv2846,essv7727,essv6348,essv22333,essv2289,essv15528,essv346,essv3287 M 271 0 0 MTRNR2L1 NA06985,NA07000,NA07048,NA10830,NA10835,NA10838,NA10846,NA10847,NA10860,NA10863,NA11832,NA11840,NA11993,NA11995,NA12006,NA12144,NA12146,NA12155,NA12234,NA12236,NA12239,NA12801,NA12802,NA12812,NA12813,NA12814,NA12864,NA18500,NA18505,NA18506,NA18508,NA18515,NA18516,NA18521,NA18537,NA18545,NA18552,NA18558,NA18563,NA18573,NA18576,NA18603,NA18608,NA18609,NA18611,NA18612,NA18620,NA18623,NA18624,NA18632,NA18633,NA18635,NA18637,NA18852,NA18853,NA18854,NA18858,NA18859,NA18863,NA18912,NA18913,NA18940,NA18945,NA18948,NA18952,NA18953,NA18966,NA18970,NA18971,NA18972,NA18973,NA18981,NA18995,NA18999,NA19099,NA19100,NA19101,NA19127,NA19128,NA19129,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19145,NA19154,NA19160,NA19171,NA19173,NA19192,NA19194,NA19202,NA19205,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19223 nsv907996 17 21870697 21984094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573383 S 6533 0 1 MTRNR2L1 IS33340 nsv907997 17 21877754 21967881 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591249 S 6533 1 0 MTRNR2L1 IS38660 nsv908003 17 21877754 22177957 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597120,nssv1568334,nssv1586734,nssv1576819 M 6533 3 1 MTRNR2L1 IS31234,IS34257,IS37964,IS40738 dgv3129n71 17 21877754 22296891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908014,nsv908004 M 6533 3 0 MTRNR2L1 IS32777,IS37577,SP81485 nsv908007 17 21910978 22054912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571744 S 6533 1 0 MTRNR2L1 IS32803 esv29620 17 21935089 21936284 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19933 S 451 0 1 "" NA19108 nsv9526 17 21940656 21955869 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21371,nssv23635,nssv23567,nssv26153,nssv23147,nssv24465,nssv22936,nssv26941,nssv26773,nssv26950,nssv23498,nssv21139,nssv25814,nssv25565,nssv23855,nssv20860,nssv22342,nssv24231,nssv27263,nssv20855,nssv24782,nssv24011,nssv25005,nssv22973,nssv25154 M 31 0 25 Samples from several populations that are part of the HapMap project. MTRNR2L1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19144,NA19173,NA19240 esv26964 17 21941742 21956626 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15563,esv18117 M 451 4 1 MTRNR2L1 NA12156,NA12414,NA12828,NA18916,NA19129 nsv827928 17 21942729 21943339 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430209 S 31 0 1 "" AK14 dgv517n67 17 21942729 21956208 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827929,nsv827930 M 31 0 3 MTRNR2L1 AK2,AK20,AK4 nsv827932 17 21944631 21945068 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427904 S 31 0 1 "" AK8 dgv3130n71 17 21951138 22177957 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908019,nsv908009,nsv908013,nsv908012,nsv908008 M 6533 8 0 "" IS30146,IS35682,IS38184,IS39626,IS40415,IS40660,IS40685,SP54110 nsv908010 17 21956604 22074816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579336 S 6533 0 1 "" IS35083 dgv3131n71 17 21967881 22093423 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908011,nsv908017 M 6533 4 0 "" IS36412,IS38380,MS14210,MS16707 nsv9527 17 21985012 21990181 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25588 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 nsv908015 17 21989115 22066299 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587319 S 6533 1 0 "" IS38008 nsv908016 17 21989115 22296891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573384 S 6533 0 1 "" IS33340 esv23895 17 21992992 21995415 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12640 S 451 0 2 "" NA12776,NA19108 dgv3132n71 17 22000083 22177957 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908018,nsv908022 M 6533 3 0 "" IS38016,IS38660,IS41112 nsv833406 17 22001112 22187001 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453239 S 95 0 1 "" nsv908020 17 22019254 22079250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541229 S 6533 0 1 "" MS15199 dgv3133n71 17 22019254 22093423 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908023,nsv908024,nsv908021 M 6533 3 0 "" IS36681,IS38303,IS39356 dgv3134n71 17 22034311 22138035 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908026,nsv908025 M 6533 2 0 "" IS30564,IS40169 nsv908027 17 22040739 22116859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569107 S 6533 0 1 "" IS31419 essv10573 17 22045526 22170456 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv942e1 17 22045526 22465691 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv260,essv15266,essv14099,essv9706 M 271 0 0 "" NA18861,NA18913,NA19094 nsv827933 17 22079769 22128652 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430767 S 31 0 1 "" NA18947 nsv9528 17 22080287 22117139 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26952,nssv24257 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA18537 esv24192 17 22091486 22095222 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9774 S 451 0 2 "" NA19108,NA19129 nsv827934 17 22095118 22128230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433295 S 31 0 1 "" NA18972 esv28549 17 22115140 22115910 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11018 S 451 0 1 "" NA19129 dgv518n67 17 22116317 22128652 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827936,nsv827935 M 31 0 2 "" NA18592,NA18942 esv9217 17 22120479 22125252 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31658 S 1 0 0 "" SJK esv21730 17 22129928 22187037 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10044,esv18934,esv14685 M 451 5 7 "" NA12044,NA12239,NA12287,NA12489,NA12749,NA18502,NA18511,NA18523,NA18861,NA19099,NA19108,NA19114 nsv9529 17 22129948 22143295 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25836 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv820454 17 22168629 22187037 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419929 S 1 1 0 "" NA10851 esv5684 17 22176372 22183518 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28125 S 1 0 1 "" SJK nsv436737 17 22182003 22182603 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465610 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2449565 17 22185234 22185404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210526 S 1 0 1 "" NA18507 esv26667 17 22287173 22292411 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14257 S 451 0 18 "" NA07037,NA07045,NA11995,NA12006,NA12287,NA12414,NA12776,NA12878,NA18505,NA18511,NA18907,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv7110 17 22287838 22291389 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29551 S 1 0 1 "" SJK esv8888 17 22288376 22289942 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31329 S 1 0 1 "" SJK esv4894 17 22288571 22290702 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27335 S 1 0 0 Single Asian sample YH "" YH esv9477 17 22288923 22290606 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31918 S 1 0 1 "" SJK esv2543677 17 22288999 22289409 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256443 S 1 0 1 "" NA18507 esv8430 17 22289714 22290486 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30871 S 1 0 1 "" SJK dgv55e19 17 22289736 22291682 CNV Loss Ahn et al 2009 19470904 Sequencing esv6717,esv7718 M 1 0 1 "" SJK esv3569 17 22290115 22291587 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26010 S 1 0 0 Single Asian sample YH "" YH esv6372 17 22290137 22291385 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28813 S 1 0 1 "" SJK esv5246 17 22290475 22290550 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27687 S 1 0 0 Single Asian sample YH "" YH esv268454 17 22292786 22292871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516699,essv2516946,essv2515442,essv2514381,essv2513953,essv2518416 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12249,NA12874,NA19143,NA19240 esv272804 17 22292786 22292871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581254 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv272130 17 22302370 22302455 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519203,essv2514101,essv2518651,essv2515363,essv2515061,essv2516512,essv2515707,essv2516057,essv2514324,essv2517827,essv2517365,essv2519045,essv2513954,essv2513589 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA12043,NA12045,NA12249,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA18970,NA19141,NA19143 esv272937 17 22302370 22302455 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581535 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv435673 17 22315606 22323046 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465611 S 2 0 1 "" NA15510 nsv833407 17 22320285 22486425 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453240 S 95 1 0 "" esv267548 17 22321484 22321569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519207,essv2516994,essv2518791,essv2514946,essv2515694,essv2518023,essv2514270,essv2517736,essv2517225,essv2519013,essv2513782,essv2518324 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12045,NA12812,NA12815,NA12872,NA12874,NA12878,NA18970,NA19141,NA19143,NA19240 esv272556 17 22321484 22321569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581586,essv2581161 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv436738 17 22352506 22353557 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465612 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv9530 17 22368576 22375657 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26840 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv523602 17 22412403 22434944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699395 S 2026 0 1 "" nsv2012 17 22425988 22458455 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5649 S 9 1 0 "" NA19129 nsv9531 17 22433338 22442818 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28221 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv510436 17 22435078 22441078 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621445,nssv624186 M 4 0 2 "" NA15510,NA18994 esv22670 17 22438953 22440347 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10810 S 451 0 1 "" NA07045 nsv827937 17 22496280 22510856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433298 S 31 0 1 "" NA18972 dgv519n67 17 22503479 22510856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827938,nsv827939 M 31 0 3 "" NA18566,NA18947,NA18999 esv21533 17 22504953 22510832 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15260 S 451 0 4 "" NA12776,NA19108,NA19129,NA19147 esv1004231 17 22506218 22510856 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586990 S 3 1 0 "" HuRef esv1944603 17 22516718 22517151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729437 S 1 0 1 "" NA18507 nsv510704 17 22545873 22575982 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620097 S 4 0 1 "" NA15510 nsv435683 17 22557335 22564802 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465613 S 2 0 1 "" NA15510 dgv66e180 17 22559930 22564800 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008306,esv996793 M 3 0 1 "" HuRef esv2572086 17 22560410 22565483 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363548 S 1 0 1 "" NA18507 esv2201947 17 22560468 22564716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674660 S 1 0 1 "" NA18507 esv4094 17 22560643 22564594 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26535 S 1 0 1 Single Asian sample YH "" YH esv6600 17 22560682 22564518 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29041 S 1 0 1 "" SJK esv23146 17 22560736 22562381 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14025 S 451 0 6 "" NA12239,NA15510,NA19099,NA19114,NA19240,NA19257 nsv514831 17 22560776 22562388 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627173 S 1414 0 0 "" nsv514832 17 22564696 22567542 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627174 S 1414 0 0 "" esv268205 17 22619160 22619497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517112,essv2515033,essv2516547,essv2515618,essv2518095,essv2515934,essv2517588,essv2518428,essv2519342 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA12812,NA12814,NA12815,NA12872,NA12873,NA12878,NA19240 esv272441 17 22619160 22619497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581587,essv2581170 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv2013 17 22681485 22716785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1361 S 9 1 0 "" NA19240 nsv520301 17 22683415 22684316 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662654,nssv682149 M 2026 0 2 "" nsv2014 17 22743091 22788343 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7316 S 9 0 1 LOC440419 NA12156 nsv436230 17 22766823 22775461 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465614 S 2 0 1 Samples from several populations that are part of the HapMap project. LOC440419 NA18505 esv22166 17 22767210 22780742 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19399 S 451 1 1 LOC440419 NA18505,NA19129 nsv442414 17 22768399 22781620 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC440419 nsv819079 17 22799869 22805265 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419705 S 2 0 1 "" AK1 esv2422193 17 22831080 22974827 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161422 S 181 1 0 KSR1 ND04019 dgv943e1 17 22902614 23201246 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8851,essv15076,essv9035,esv466,essv9353,essv9160,essv9233 M 271 0 0 KSR1,LGALS9,NOS2 NA18508,NA18853,NA18860,NA19128,NA19129,NA19132 esv6766 17 22961725 22961821 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29207 S 1 1 0 KSR1 SJK esv28793 17 22981291 23034982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18742,esv21389 M 451 6 0 LGALS9 NA18511,NA18858,NA18907,NA18916,NA19129,NA19240 nsv9532 17 22996146 23031188 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24491,nssv28223,nssv26962 M 31 3 0 Samples from several populations that are part of the HapMap project. LGALS9 NA12740,NA18517,NA19221 nsv517874 17 22998672 23095936 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694175 S 2026 1 0 LGALS9 nsv435676 17 23003132 23100893 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465615 S 2 0 1 "" NA15510 esv2085603 17 23054362 23054810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4535162 S 1 0 1 "" NA18507 esv1008321 17 23054554 23054625 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577132 S 3 0 1 "" HuRef esv1743234 17 23054554 23054626 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657907 S 2 0 1 "" HuRef esv28579 17 23089855 23119190 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16281 S 451 3 0 NOS2 NA18511,NA18858,NA19129 nsv9533 17 23101223 23129833 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28225,nssv25611,nssv25857 M 31 3 0 Samples from several populations that are part of the HapMap project. NOS2 NA12155,NA19221,NA19240 esv270141 17 23183875 23184155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506285,essv2509441,essv2498858,essv2502146 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19129,NA19138,NA19257 esv1008106 17 23231163 23240224 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563580 S 3 0 1 C17orf108 HuRef nsv2015 17 23238049 23282864 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7317 S 9 0 1 C17orf108 NA12156 nsv112303 17 23272972 23274734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130881 M 24 "" nsv2016 17 23447841 23492790 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7318 S 9 0 1 NLK NA12156 nsv522349 17 23487016 23509196 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695129 S 2026 1 0 NLK nsv519330 17 23634795 23654606 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696795 S 2026 1 0 KRT18P55 nsv519388 17 23654606 23731073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655807,nssv673652 M 2026 0 2 IFT20,KRT18P55,MIR4723,POLDIP2,SARM1,SEBOX,TMEM199,TMEM97,TNFAIP1,VTN nsv2017 17 23676764 23708866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5650 S 9 1 0 IFT20,POLDIP2,TMEM199,TMEM97,TNFAIP1 NA19129 nsv2018 17 23773905 23820636 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6714 S 9 0 1 "" NA12156 nsv511582 17 23799868 23812171 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626209 S 1 0 1 "" 1 nsv512482 17 23803920 23807711 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625081 S 1 0 1 "" 1 esv25649 17 23804530 23806501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18604 S 451 0 8 "" NA11931,NA11995,NA12004,NA12239,NA12414,NA12749,NA12776,NA15510 esv1046249 17 23807248 23807248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334861 S 2 1 0 "" HuRef esv1633785 17 23807287 23807287 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781575 S 2 1 0 "" HuRef esv1175618 17 23867968 23868307 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662087 S 2 0 1 "" HuRef esv988393 17 23868726 23868793 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583731 S 3 0 1 "" HuRef esv1790977 17 23868799 23868867 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075177 S 2 0 1 "" HuRef nsv482200 17 23959109 23965338 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558561 S 1 0 1 SGK494,SPAG5-AS1 KB1 nsv908028 17 24056954 24100588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510188 S 6533 0 1 NEK8,PROCA1,RAB34,RPL23A,SNORD42A,SNORD42B,SNORD4A,SNORD4B,TLCD1,TRAF4 SP54956 esv24071 17 24093092 24095700 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10630 S 451 0 1 NEK8,TRAF4 NA18511 nsv2019 17 24124073 24162624 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2963,nssv7319 M 9 2 0 C17orf63 NA12156,NA18555 esv28410 17 24152648 24155884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10761 S 451 0 1 C17orf63 NA19114 esv1280050 17 24172959 24173621 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908889 S 2 0 1 C17orf63 HuRef nsv457719 17 24218760 24365902 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534850 S 1557 0 1 DHRS13,FLOT2,PHF12,SEZ6 NINDS_71 nsv833408 17 24264614 24456594 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453241 S 95 0 1 MYO18A,PHF12,PIPOX,SEZ6,TIAF1 nsv908029 17 24420016 24671756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599443 S 6533 0 1 CRYBA1,MYO18A,NUFIP2,TIAF1 IS41634 nsv908030 17 24516995 24568889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510189 S 6533 0 1 MYO18A SP54956 nsv2020 17 24519305 24564517 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7320 S 9 0 1 MYO18A NA12156 nsv2022 17 24560331 24595080 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4259 S 9 1 0 "" NA12878 nsv908031 17 24560500 24627212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552789 S 6533 0 1 CRYBA1,NUFIP2 MS19630 nsv908032 17 24560500 24671756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557773 S 6533 0 1 CRYBA1,NUFIP2 MS22858 esv2335781 17 24790128 24790562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913661 S 1 0 1 TAOK1 NA18507 esv994280 17 24800753 24817316 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563979 S 3 0 0 TAOK1 HuRef esv22895 17 24806398 24810806 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19168,esv12354 M 451 0 3 TAOK1 NA18511,NA19190,NA19225 nsv833409 17 24816790 25006951 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453242 S 95 1 0 ABHD15,ANKRD13B,CORO6,GIT1,SSH2,TAOK1,TP53I13 esv2474903 17 24826116 24827624 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226127 S 1 0 1 TAOK1 NA18507 nsv819892 17 24836374 24839429 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419502 S 2 0 1 TAOK1 AK1 esv260002 17 24836561 24839566 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400014,essv2396273,essv2396689,essv2399620 M 144 0 0 Samples from several populations that are part of the HapMap project. TAOK1 NA07051,NA12716,NA12750,NA12761 nsv821292 17 24836642 24840769 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419930 S 1 1 0 TAOK1 NA10851 nsv827940 17 24836642 24840789 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432500 S 31 1 0 TAOK1 AK20 nsv908033 17 24914112 24926101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506075 S 6533 0 1 ABHD15,GIT1,TP53I13 SP54043 nsv521557 17 24914112 24946401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694460 S 2026 0 1 ABHD15,ANKRD13B,GIT1,TP53I13 dgv3135n71 17 24914112 24972970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908035,nsv908034 M 6533 0 2 ABHD15,ANKRD13B,CORO6,GIT1,TP53I13 SP54956,SP55021 esv22811 17 24917830 24920131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13977 S 451 0 1 ABHD15,TP53I13 NA18511 nsv526524 17 24933478 24935683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702836 S 2026 0 1 GIT1 dgv3136n71 17 24934832 24950344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908036,nsv908037 M 6533 0 2 ANKRD13B,GIT1 SP54043,SP54988 nsv908038 17 24935950 24970683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508154 S 6533 0 1 ANKRD13B,CORO6,GIT1 SP54725 esv25114 17 24940173 24941057 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10074 S 451 0 1 GIT1 NA18511 esv26830 17 24944232 24944991 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13323 S 451 0 1 ANKRD13B NA18511 nsv827941 17 24948235 24958785 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430307 S 31 1 0 ANKRD13B NA18969 nsv833410 17 24958227 25127880 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453243 S 95 0 1 ANKRD13B,CORO6,SSH2 nsv908039 17 25073930 25154910 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514713 S 6533 0 1 SSH2 SP56047 nsv514833 17 25204536 25205636 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628283 S 1414 0 1 SSH2 nsv442415 17 25204962 25206809 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SSH2 nsv507838 17 25227543 25233543 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620614,nssv623223 M 4 2 0 SSH2 NA15510,NA18994 nsv112489 17 25246777 25246865 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131067 M 24 SSH2 dgv3137n71 17 25354406 25423103 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908041,nsv908040 M 6533 0 2 EFCAB5 SP56047,SP57472 esv2655258 17 25422306 25422553 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178597 S 1 1 0 EFCAB5 NA18507 nsv908042 17 25460658 25529150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514715 S 6533 0 1 MIR3184,MIR423,NSRP1 SP56047 esv2458896 17 25473257 25474729 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319329 S 1 0 1 NSRP1 NA18507 esv2373242 17 25474043 25474404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834455 S 1 0 1 NSRP1 NA18507 esv268252 17 25482386 25482574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512635,essv2505197 M 157 2 0 Samples from several populations that are part of the HapMap project. NSRP1 NA18489,NA18853 nsv908043 17 25488600 25531819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508006 S 6533 0 1 NSRP1 SP54579 nsv112136 17 25495407 25498957 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130714 M 24 NSRP1 nsv513467 17 25507293 25507445 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625872 S 1 1 0 NSRP1 1 esv2606765 17 25515919 25517534 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331212 S 1 0 1 NSRP1 NA18507 nsv2023 17 25596932 25611165 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2171 S 9 1 0 BLMH NA18555 esv2478144 17 25611775 25613256 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196879 S 1 0 1 BLMH NA18507 esv268309 17 25697646 25697820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494824,essv2509009,essv2501468,essv2499099 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18522,NA19093,NA19114 nsv2024 17 25698623 25722559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9545 S 9 1 0 "" NA18507 esv1069291 17 25710637 25710793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131032 S 2 0 1 "" HuRef nsv908044 17 25716700 25876414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531870 S 6533 1 0 CPD,GOSR1 MS10685 nsv515870 17 25783161 26024145 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665095,nssv678369,nssv663780 M 2026 3 0 CPD,GOSR1,LRRC37BP1,SH3GL1P2,TBC1D29 dgv3138n71 17 25886393 25935906 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908046,nsv908045 M 6533 2 0 LRRC37BP1,TBC1D29 IS34134,MS10685 esv29095 17 25896924 25916544 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16691,esv18759 M 451 3 0 TBC1D29 NA18858,NA19129,NA19240 nsv827943 17 25898789 26114850 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430418 S 31 1 0 LRRC37BP1,SH3GL1P2,SUZ12P,TBC1D29 NA18969 esv32561 17 25901604 25922975 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99794 S 51 1 0 TBC1D29 22086 nsv908047 17 25904061 26131834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592721 S 6533 1 0 LRRC37BP1,SH3GL1P2,SUZ12P,TBC1D29 IS39243 nsv471394 17 25910710 25914633 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548153,nssv548155,nssv548154 M 3 TBC1D29 nsv7292 17 25930480 26015476 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10117,nssv10118,nssv5651 M 9 0 0 LRRC37BP1,SH3GL1P2 NA18956,NA19129 esv273637 17 25939304 25939389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581145 S 7 1 0 Samples from several populations that are part of the HapMap project. LRRC37BP1 NA19240 nsv499557 17 25973017 25981880 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585524 S 9 0 0 LRRC37BP1,SH3GL1P2 nsv457720 17 25976412 26373814 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534851 S 1557 0 1 ADAP2,ATAD5,C17orf42,CRLF3,DPRXP4,LRRC37BP1,RNF135,SH3GL1P2,SUZ12P 1782681208_A nsv9534 17 25977528 25992480 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23663 S 31 1 0 Samples from several populations that are part of the HapMap project. LRRC37BP1,SH3GL1P2 NA18563 dgv3139n71 17 25982426 26138589 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908049,nsv908048 M 6533 3 0 CRLF3,LRRC37BP1,SUZ12P SP53426,SP53812,SP81191 esv29253 17 26039266 26049478 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11439 S 451 0 2 "" NA18909,NA19099 nsv442416 17 26040482 26043732 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv908050 17 26048444 26185484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598292,nssv1579529 M 6533 0 2 ATAD5,CRLF3,SUZ12P IS35127,IS41317 dgv3140n71 17 26078094 26211708 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908052,nsv908051 M 6533 0 2 ATAD5,CRLF3,SUZ12P IS34407,IS39784 nsv833411 17 26090520 26143514 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453244 S 95 0 1 CRLF3,SUZ12P nsv908053 17 26135494 26266726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514472 S 6533 0 1 ATAD5,C17orf42,CRLF3 SP56004 nsv513468 17 26143678 26145071 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625873 S 1 1 0 CRLF3 1 esv2596745 17 26143690 26144403 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304663 S 1 1 0 CRLF3 NA18507 nsv833412 17 26144828 26336083 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453245 S 95 0 1 ADAP2,ATAD5,C17orf42,CRLF3,DPRXP4,RNF135 nsv908054 17 26199298 26250354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514716 S 6533 0 1 ATAD5,C17orf42 SP56047 esv2285349 17 26210645 26211365 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962073 S 1 0 1 ATAD5 NA18507 nsv908055 17 26224248 26248668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517317 S 6533 1 0 ATAD5 SP57250 esv1958886 17 26257028 26257444 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626748 S 1 0 1 C17orf42 NA18507 nsv908056 17 26314909 26339541 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502207 S 6533 0 1 DPRXP4,RNF135 SP51109 esv24402 17 26321421 26322721 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10663 S 451 0 1 RNF135 NA19114 esv2129610 17 26357543 26357950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853829 S 1 0 1 "" NA18507 esv274864 17 26427516 26430585 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585787 S 1250 0 1 "" nsv908057 17 26520469 26577611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586497 S 6533 1 0 NF1 IS37837 dgv3141n71 17 26520469 26588729 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908058,nsv908060 M 6533 0 3 NF1 IS34599,SP55878,SP57472 nsv908059 17 26520469 26612816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541458 S 6533 0 1 NF1 MS15312 nsv522495 17 26554835 26643116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705863 S 2026 0 1 NF1 esv21835 17 26574422 26582110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19314 S 451 0 4 NF1 NA07045,NA12776,NA18858,NA19129 nsv833413 17 26576214 26749754 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453251,nssv1453250,nssv1453249,nssv1453248,nssv1453246,nssv1453247 M 95 1 5 EVI2A,EVI2B,NF1,OMG,RAB11FIP4 nsv514834 17 26577804 26587496 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627176 S 1414 0 0 NF1 esv1000588 17 26578648 26587424 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586129 S 3 0 1 NF1 HuRef nsv827944 17 26581686 26583352 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430791 S 31 0 1 NF1 NA18947 esv1001800 17 26582336 26584220 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587214 S 3 0 1 NF1 HuRef esv25044 17 26605540 26615086 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14434 S 451 3 0 NF1 NA07037,NA11931,NA15510 nsv827945 17 26608422 26613387 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424614 S 31 1 0 NF1 NA18582 nsv514835 17 26608534 26613552 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627177 S 1414 0 0 NF1 esv990886 17 26611172 26613387 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587057 S 3 0 1 NF1 HuRef esv29223 17 26615908 26619405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20412 S 451 0 2 NF1 NA12776,NA19129 nsv512483 17 26680349 26684158 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625082 S 1 0 1 NF1 1 esv3891 17 26683649 26684138 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26332 S 1 0 1 Single Asian sample YH NF1 YH esv991002 17 26683717 26684066 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578026 S 3 0 1 NF1 HuRef esv8375 17 26683721 26684194 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30816 S 1 0 1 NF1 SJK nsv827946 17 26742030 26743909 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422880 S 31 1 0 RAB11FIP4 NA18547 nsv827947 17 26764905 26765494 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430640 S 31 1 0 RAB11FIP4 NA18969 nsv111881 17 26796748 26799536 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130459 M 24 RAB11FIP4 nsv522350 17 26808557 26809496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695130 S 2026 0 1 RAB11FIP4 nsv519930 17 26809246 26809496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679468,nssv688882,nssv659531,nssv682290,nssv674162,nssv690398 M 2026 0 6 RAB11FIP4 esv2536682 17 26853943 26856336 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271247 S 1 0 1 RAB11FIP4 NA18507 esv28654 17 26854482 26855155 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11156 S 451 0 3 RAB11FIP4 NA18861,NA19190,NA19225 esv270287 17 26866576 26866899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571716,essv2546196,essv2542405,essv2536672,essv2544029,essv2545582,essv2548450,essv2521644,essv2535075,essv2520521,essv2564574,essv2578085,essv2553736,essv2559751,essv2565460,essv2576204,essv2528938,essv2571923,essv2554641,essv2525072 M 157 20 0 Samples from several populations that are part of the HapMap project. RAB11FIP4 NA07346,NA07357,NA11840,NA11881,NA11919,NA11920,NA11992,NA12003,NA12045,NA12144,NA12249,NA12716,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA18579,NA18973 nsv908061 17 26940757 26958770 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500291,nssv1514943,nssv1514844 M 6533 3 0 "" SP50129,SP56085,SP56100 nsv908062 17 26958770 27059794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560030 S 6533 0 1 "" MS24266 esv2382766 17 27010181 27010562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579739 S 1 0 1 "" NA18507 nsv527440 17 27069337 27081051 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703881 S 2026 1 0 "" nsv518628 17 27069337 27088333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696078 S 2026 1 0 "" nsv457721 17 27102830 27140959 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534852 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00752 nsv515651 17 27107800 27123735 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658670,nssv681526,nssv664252 M 2026 3 0 "" nsv908063 17 27107800 27161921 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600541 S 6533 0 1 "" IS41894 nsv908064 17 27107800 27177993 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542990 S 6533 1 0 "" MS15997 esv25046 17 27120270 27121891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15419 S 451 0 1 "" NA19129 esv1718538 17 27122880 27122983 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363022 S 2 0 1 "" HuRef esv2594771 17 27130078 27131878 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167463 S 1 0 1 "" NA18507 esv1931361 17 27130546 27131843 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992970 S 1 0 1 "" NA18507 esv4126 17 27130682 27131776 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26567 S 1 0 1 Single Asian sample YH "" YH esv27031 17 27130696 27131638 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12513 S 451 0 8 "" NA07037,NA12414,NA12776,NA18508,NA18523,NA19099,NA19108,NA19257 nsv112134 17 27130738 27131656 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130712 M 24 "" nsv827948 17 27130930 27131420 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427905,nssv1424615,nssv1436223 M 31 0 3 "" AK8,NA18566,NA18582 dgv944e1 17 27245834 27562095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv128,essv16086 M 271 0 0 ARGFXP2,LRRC37B,RHOT1,SH3GL1P1,SUZ12,UTP6 NA18501 nsv908065 17 27246115 27382423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567215 S 6533 0 1 LRRC37B,SUZ12,UTP6 IS31046 nsv2025 17 27280859 27323501 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7321 S 9 0 1 SUZ12 NA12156 nsv908066 17 27286282 27451516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579996 S 6533 1 0 LRRC37B,SH3GL1P1,SUZ12 IS35205 nsv908067 17 27286282 27545508 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592722 S 6533 1 0 ARGFXP2,LRRC37B,RHOT1,SH3GL1P1,SUZ12 IS39243 nsv9536 17 27383767 27385918 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20885 S 31 1 0 Samples from several populations that are part of the HapMap project. LRRC37B NA10847 nsv9537 17 27411281 27439056 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28227 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv1415538 17 27443325 27443383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773583 S 2 0 1 "" HuRef esv2564157 17 27459989 27461612 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311676 S 1 0 1 "" NA18507 esv2357861 17 27460659 27461351 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498390 S 1 0 1 "" NA18507 nsv9538 17 27465328 27471696 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25878,nssv27303 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA19240 esv24535 17 27466732 27471357 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16243 S 451 4 0 "" NA18858,NA18907,NA19129,NA19240 esv996784 17 27474730 27474781 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579259 S 3 0 1 "" HuRef esv1549261 17 27474783 27474835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284806 S 2 0 1 "" HuRef nsv908068 17 27573557 27769855 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544196 S 6533 1 0 C17orf75,MIR632,RHBDL3,RHOT1,ZNF207 MS16309 nsv908069 17 27612377 27707111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522407 S 6533 1 0 C17orf75,MIR632,RHBDL3,ZNF207 SP53003 esv29073 17 27614844 27619890 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11272 S 451 1 0 RHBDL3 NA12044 nsv827949 17 27621887 27622597 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430751 S 31 1 0 RHBDL3 NA18969 esv2238058 17 27627717 27628223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934678 S 1 0 1 RHBDL3 NA18507 esv1001216 17 27633422 27634030 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574565 S 3 0 1 RHBDL3 HuRef esv2621296 17 27668824 27669757 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302617 S 1 1 0 RHBDL3 NA18507 nsv519839 17 27799874 27853777 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697079 S 2026 0 1 CDK5R1,MYO1D,PSMD11 nsv908070 17 27833568 27849640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511536,nssv1508490 M 6533 0 2 CDK5R1,MYO1D SP54725,SP55021 esv21464 17 27837365 27838765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20702 S 451 0 1 CDK5R1 NA07045 esv270522 17 27917944 27918273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558119,essv2546555,essv2521089,essv2536693,essv2522674,essv2544086,essv2571063,essv2568381,essv2531798,essv2521617,essv2535418,essv2553999,essv2529191,essv2578011,essv2553769,essv2537519,essv2528512,essv2546900,essv2539937,essv2520740,essv2557561,essv2557039,essv2552346,essv2551801,essv2532084,essv2562578,essv2578546,essv2558875,essv2536966,essv2538899,essv2569666,essv2527307,essv2544828,essv2523875,essv2552874,essv2541240,essv2538398,essv2542928,essv2540260,essv2524548,essv2565205,essv2539740,essv2549575,essv2519748,essv2559977,essv2566038,essv2531141,essv2532514,essv2529018,essv2567383,essv2541755,essv2563703,essv2553423,essv2535900,essv2559128,essv2568871,essv2543737,essv2528149,essv2539429,essv2534149,essv2578130,essv2573239,essv2533652,essv2555570,essv2567276,essv2573878,essv2557757,essv2555886,essv2534333,essv2531477,essv2573624,essv2543398,essv2571929,essv2525710,essv2526798,essv2575557,essv2524279,essv2574614,essv2545131,essv2560191,essv2549634,essv2545748,essv2574102,essv2538071,essv2548843,essv2533426,essv2554658,essv2547729,essv2524867,essv2563166 M 157 90 0 Samples from several populations that are part of the HapMap project. MYO1D NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11881,NA11894,NA11920,NA11931,NA11992,NA11993,NA11995,NA12006,NA12144,NA12249,NA12287,NA12749,NA12761,NA12763,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18638,NA18861,NA18870,NA18907,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18951,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19099,NA19129,NA19138,NA19172,NA19190,NA19225,NA19239,NA19240 esv274212 17 27917944 27918273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581792,essv2582689,essv2583235,essv2584558,essv2583533 M 7 5 0 Samples from several populations that are part of the HapMap project. MYO1D NA12878,NA12891,NA12892,NA19239,NA19240 esv1340589 17 27917975 27917975 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122244 S 2 1 0 MYO1D HuRef esv270635 17 27923283 27923618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576560,essv2547599,essv2557184,essv2550222,essv2550990,essv2529805,essv2575184,essv2524275,essv2560944,essv2574753,essv2530257,essv2551471 M 157 12 0 Samples from several populations that are part of the HapMap project. MYO1D NA12154,NA12717,NA18501,NA18511,NA18858,NA19093,NA19102,NA19129,NA19137,NA19138,NA19141,NA19257 nsv908071 17 27929523 28060606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571002 S 6533 0 1 MYO1D IS32429 nsv908072 17 27939315 27998612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517054 S 6533 1 0 MYO1D SP57067 nsv833415 17 27961446 28129586 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453252 S 95 1 0 MYO1D nsv833416 17 28028294 28214642 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453253 S 95 1 0 MYO1D esv267480 17 28131601 28131895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513504,essv2501277,essv2506955,essv2510932,essv2497071,essv2501923,essv2498020 M 157 7 0 Samples from several populations that are part of the HapMap project. MYO1D NA18907,NA19093,NA19102,NA19116,NA19190,NA19239,NA19240 esv273461 17 28131610 28131923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580078,essv2579896,essv2579180 M 7 3 0 Samples from several populations that are part of the HapMap project. MYO1D NA12878,NA12892,NA19239 nsv507839 17 28154479 28160479 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617918 S 4 1 0 MYO1D CHM nsv510705 17 28192649 28374212 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620098 S 4 0 1 ACCN1,MYO1D,SPACA3,TMEM98 NA15510 nsv833417 17 28194929 28369711 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453254 S 95 1 0 ACCN1,MYO1D,SPACA3,TMEM98 esv24161 17 28279105 28280814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14929 S 451 0 1 TMEM98 NA19129 esv1006613 17 28341799 28342792 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586917 S 3 0 1 "" HuRef nsv111781 17 28357165 28357228 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130359 M 24 "" nsv2026 17 28366349 28411165 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7322 S 9 0 1 ACCN1 NA12156 esv1962059 17 28501637 28502182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599946 S 1 0 1 ACCN1 NA18507 esv2608939 17 28501828 28502008 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387419 S 1 0 1 ACCN1 NA18507 nsv908073 17 28508850 28519699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513464 S 6533 0 1 ACCN1 SP55774 nsv457722 17 28515620 28533971 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534853 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACCN1 HGDP01163 esv2390875 17 28545582 28546021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635326 S 1 0 1 ACCN1 NA18507 nsv833418 17 28573710 28714625 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453255 S 95 1 0 ACCN1 nsv525886 17 28595941 28596020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702087 S 2026 0 1 ACCN1 esv2028766 17 28620633 28621018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725005 S 1 0 1 ACCN1 NA18507 nsv833419 17 28624283 28648111 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453256 S 95 1 0 ACCN1 nsv827950 17 28630652 28631318 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432501 S 31 0 1 ACCN1 AK20 esv28349 17 28643047 28645208 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14758 S 451 0 1 ACCN1 NA07045 nsv2027 17 28649259 28681300 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6715 S 9 1 0 ACCN1 NA12156 nsv833420 17 28664889 28816126 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453257 S 95 1 0 ACCN1 esv1009599 17 28670843 28673962 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563739 S 3 0 1 ACCN1 HuRef nsv9539 17 28709546 28949830 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26960 S 31 0 1 Samples from several populations that are part of the HapMap project. AA06,ACCN1 NA18502 nsv521841 17 28757874 28944267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694613 S 2026 0 1 AA06,ACCN1 nsv526348 17 28768584 28770788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702640 S 2026 0 1 ACCN1 esv23435 17 28779244 28781640 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16155 S 451 1 0 ACCN1 NA12044 nsv510706 17 28788955 28947509 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620099 S 4 0 1 AA06,ACCN1 NA15510 nsv112442 17 28815651 28815704 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131020 M 24 ACCN1 nsv471803 17 28821970 28822139 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646084 M 0.196 95 ACCN1 esv25758 17 28841965 28842489 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19520 S 451 0 1 ACCN1 NA12287 nsv527765 17 28842475 28850154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704254 S 2026 0 1 ACCN1 nsv833421 17 28871846 29014335 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453259,nssv1453258 M 95 2 0 AA06,ACCN1 nsv908074 17 28881827 28991573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553358 S 6533 0 1 AA06,ACCN1 MS19941 nsv519297 17 28991792 29960126 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696774 S 2026 1 0 ACCN1,C17orf102,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8,TMEM132E nsv827951 17 29075799 29079765 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436224 S 31 0 1 ACCN1 NA18566 nsv827952 17 29087910 29088731 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423822,nssv1423004,nssv1440016,nssv1424616,nssv1436225 M 31 5 0 ACCN1 NA18537,NA18552,NA18566,NA18582,NA18999 esv28058 17 29087983 29088761 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14647 S 451 8 0 ACCN1 NA07037,NA12414,NA12749,NA12878,NA15510,NA18861,NA19114,NA19129 esv268254 17 29088594 29088706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496633,essv2508386,essv2493344,essv2508863,essv2500277,essv2502838,essv2497818,essv2498979,essv2509615,essv2497710,essv2511932,essv2501870,essv2503930,essv2495051 M 157 14 0 Samples from several populations that are part of the HapMap project. ACCN1 NA07037,NA07051,NA11894,NA12749,NA12776,NA12878,NA12891,NA12892,NA18555,NA19114,NA19129,NA19147,NA19238,NA19239 esv272797 17 29088597 29088690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579143,essv2579458 M 7 2 0 Samples from several populations that are part of the HapMap project. ACCN1 NA19239,NA19240 nsv517423 17 29128788 29849374 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665223,nssv657841,nssv681994,nssv679296,nssv696846,nssv651980,nssv660932,nssv664310,nssv680227,nssv660015,nssv655808,nssv655664,nssv696217,nssv703026 M 2026 2 12 ACCN1,CCL1,CCL11,CCL13,CCL2,CCL7,CCL8 nsv833422 17 29170118 29347573 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453260 S 95 1 0 ACCN1 esv26594 17 29201192 29203527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14533 S 451 0 1 ACCN1 NA19114 esv1190540 17 29207664 29207664 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050906 S 2 1 0 ACCN1 HuRef esv270075 17 29245130 29245215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514684 S 157 1 0 Samples from several populations that are part of the HapMap project. ACCN1 NA11840 nsv2028 17 29255449 29287827 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4260 S 9 1 0 ACCN1 NA12878 esv270661 17 29264809 29265395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498408,essv2493939,essv2504871 M 157 3 0 Samples from several populations that are part of the HapMap project. ACCN1 NA18858,NA18871,NA19099 esv1010808 17 29316500 29330190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565159 S 3 0 1 ACCN1 HuRef esv2509611 17 29361807 29362697 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269823 S 1 1 0 ACCN1 NA18507 esv22900 17 29362031 29363159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17784 S 451 0 1 ACCN1 NA18505 esv2594146 17 29362142 29362228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287951 S 1 0 1 ACCN1 NA18507 esv1388614 17 29362187 29362187 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197707 S 2 1 0 ACCN1 HuRef nsv908075 17 29413428 29440368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516275 S 6533 0 1 ACCN1 SP56734 esv2566342 17 29450243 29450296 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355949 S 1 0 1 ACCN1 NA18507 esv1361190 17 29450265 29450317 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151229 S 2 0 1 ACCN1 HuRef esv1004718 17 29509010 29509090 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568674 S 3 0 1 "" HuRef esv1345771 17 29509046 29509127 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212521 S 2 0 1 "" HuRef esv272771 17 29608413 29608498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581412 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2115303 17 29625743 29626205 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788557 S 1 0 1 "" NA18507 esv272947 17 29653359 29653689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581959,essv2582303,essv2583051 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv267476 17 29653361 29653647 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523056,essv2570890,essv2568183,essv2545270,essv2577516,essv2576775,essv2535142,essv2552072,essv2520536,essv2564384,essv2559574,essv2537703,essv2528213,essv2546820,essv2538397,essv2524462,essv2539670,essv2519725,essv2559909,essv2522092,essv2559210,essv2538135 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11931,NA11993,NA11995,NA12003,NA12043,NA12154,NA12249,NA12489,NA12716,NA12751,NA12776,NA12878,NA12891,NA12892,NA18547,NA18555,NA18563,NA18566,NA18570,NA18571,NA18638 esv1430368 17 29697527 29697527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618490 S 2 1 0 "" HuRef esv270606 17 29758501 29758829 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558214,essv2565667,essv2575990,essv2540750,essv2571596,essv2546270,essv2521275,essv2525954,essv2542507,essv2522728,essv2543908,essv2570915,essv2568185,essv2545359,essv2523484,essv2577541,essv2570487,essv2548290,essv2521888,essv2550504,essv2535011,essv2553987,essv2544509,essv2552054,essv2547442,essv2529240,essv2558592,essv2564338,essv2577949,essv2553636,essv2559537,essv2565534,essv2520084,essv2564077,essv2554979,essv2530587,essv2561939,essv2547011,essv2544734,essv2523928,essv2552916,essv2541153,essv2538270,essv2542809,essv2540295,essv2524734,essv2565074,essv2534948,essv2561254,essv2539735,essv2549275,essv2519560,essv2559829,essv2521925,essv2565952,essv2530949,essv2567717,essv2528801,essv2567404,essv2553136,essv2535707,essv2572422,essv2578177,essv2573173,essv2533669,essv2555518,essv2567150,essv2566589,essv2530114,essv2573836,essv2527696,essv2555834,essv2534454,essv2522564,essv2531576,essv2573492,essv2572069,essv2526947,essv2568582,essv2548133,essv2545861,essv2574239,essv2536236,essv2537906,essv2548656,essv2533353,essv2547844,essv2524974 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12234,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12892,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18605,NA18608,NA18609,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18973,NA19005,NA19147,NA19210,NA19239,NA19240 esv274337 17 29758505 29758831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582803,essv2584715,essv2583452 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 esv990241 17 29758517 29758525 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572794 S 3 1 0 "" HuRef nsv2029 17 29760047 29793170 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7323 S 9 1 0 "" NA12156 esv27290 17 29829777 29830595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10110 S 451 0 1 "" NA12414 esv1791571 17 29831784 29831784 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676359 S 2 1 0 "" HuRef nsv513469 17 29837611 29838099 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625863 S 1 1 0 "" 1 nsv2030 17 29863677 29896552 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6716 S 9 1 0 "" NA12156 nsv520285 17 29866716 29869239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687692,nssv662358 M 2026 0 2 "" nsv519238 17 29866716 29873642 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696729 S 2026 0 1 "" esv27059 17 29896539 29898685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17830 S 451 0 11 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12414,NA12749,NA19108 dgv520n67 17 29897006 29898785 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827954,nsv827960,nsv827959,nsv827958,nsv827957 M 31 0 11 "" AK12,AK14,AK18,AK8,NA18526,NA18564,NA18570,NA18942,NA18947,NA18951,NA18968 dgv521n67 17 29897045 29898252 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827955,nsv827956 M 31 0 3 "" NA18582,NA18969,NA18972 esv3610 17 29897059 29898829 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26051 S 1 0 1 Single Asian sample YH "" YH nsv827961 17 29898253 29898785 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424620 S 31 0 1 "" NA18582 esv33292 17 29920449 29935983 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99855 S 51 1 0 C17orf102,TMEM132E 22086 nsv519348 17 29923365 29924950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655526,nssv673897,nssv682702,nssv690655,nssv681216,nssv661605,nssv693901 M 2026 0 7 "" nsv833423 17 29982713 30132270 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453261 S 95 0 1 TMEM132E nsv523302 17 29991897 30015559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699042 S 2026 0 1 "" esv271416 17 30065323 30065408 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518449 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv269033 17 30071466 30071786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494289,essv2496350,essv2493605,essv2508965,essv2495607 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18517,NA18522,NA18916 nsv2031 17 30094460 30137450 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7324 S 9 0 1 "" NA12156 nsv2033 17 30152074 30170521 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2964 S 9 1 0 "" NA18555 nsv524742 17 30154422 30157201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700733 S 2026 0 1 "" nsv2034 17 30185940 30216350 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10119 S 9 1 0 "" NA18956 esv992737 17 30189490 30189628 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584361 S 3 0 1 "" HuRef nsv457723 17 30194596 30241315 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534854 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv112155 17 30269940 30269940 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130733 M 24 "" nsv526685 17 30279875 30310777 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703018 S 2026 1 0 CCT6B esv2619478 17 30328718 30329227 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327859 S 1 1 0 "" NA18507 nsv2035 17 30353734 30398962 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7325 S 9 0 1 LIG3,RAD51L3-RFFL,RFFL NA12156 nsv2036 17 30475909 30494272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2172 S 9 1 0 FNDC8,NLE1 NA18555 esv270317 17 30484750 30485038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497300,essv2499949,essv2507890,essv2507687,essv2512698,essv2511662,essv2503506,essv2500541,essv2503759,essv2499201,essv2498857 M 157 11 0 Samples from several populations that are part of the HapMap project. NLE1 NA18545,NA18558,NA18564,NA18576,NA18577,NA18940,NA18947,NA18956,NA18960,NA19114,NA19138 nsv2037 17 30538437 30564848 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7326 S 9 0 1 SLC35G3,UNC45B NA12156 esv2422399 17 30563353 30642714 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161457 S 181 0 1 SLFN5 ND04296 esv1008307 17 30587210 30588155 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586420 S 3 0 1 "" HuRef nsv457724 17 30633360 30715522 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534855 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLFN11 HGDP00667 nsv515566 17 30688931 30792312 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685161,nssv679424,nssv663924,nssv663544,nssv682841,nssv690238,nssv655753,nssv705635,nssv686085,nssv691329,nssv667652,nssv687242,nssv681737 M 2026 1 12 SLFN11,SLFN12,SLFN13 nsv908077 17 30701608 30787791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582129,nssv1522512 M 6533 0 2 SLFN11,SLFN12,SLFN13 IS35789,SP53196 dgv3142n71 17 30701608 30793975 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908076,nsv908078 M 6533 4 0 SLFN11,SLFN12,SLFN13 MS11389,MS12286,MS13336,MS16746 esv269947 17 30707137 30707317 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513185 S 157 1 0 Samples from several populations that are part of the HapMap project. SLFN11 NA12249 dgv365n27 17 30708148 30791060 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457730,nsv457727 M 1557 0 2 SLFN11,SLFN12,SLFN13 1780854176_A,HGDP00161 nsv457728 17 30708148 30792312 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534857 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLFN11,SLFN12,SLFN13 HGDP01189 esv26676 17 30729317 30740304 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16984 S 451 0 1 "" NA19129 esv1009166 17 30775502 30775561 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580558 S 3 0 1 SLFN12 HuRef esv22340 17 30802117 30805069 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15869 S 451 0 1 "" NA19114 nsv519981 17 30865850 30888592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697161 S 2026 1 0 "" nsv908079 17 30873982 31060803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579887 S 6533 0 1 AP2B1,PEX12,SLFN14,SNORD7 IS35181 nsv2038 17 30920749 30949928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5653 S 9 1 0 AP2B1,PEX12,SNORD7 NA19129 esv2647158 17 31035098 31036494 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234822 S 1 0 1 AP2B1 NA18507 nsv908080 17 31052077 31096668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554533 S 6533 0 1 AP2B1,GAS2L2,RASL10B MS20850 nsv438273 17 31064899 31067497 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470682,nssv470677,nssv470673,nssv470672,nssv470679,nssv470675,nssv470678,nssv470680,nssv470681,nssv470676,nssv470671,nssv470670 M 269 0 11 Samples from several populations that are part of the HapMap project. AP2B1 NA18506,NA18507,NA18914,NA19094,NA19130,NA19132,NA19138,NA19161,NA19192,NA19194,NA19210 dgv52n17 17 31066444 31075289 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437818,nsv437817 M 60 0 2 AP2B1 NA19132,NA19194 esv1004453 17 31095668 31104285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565001 S 3 0 1 GAS2L2 HuRef nsv517530 17 31096668 31101541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704642,nssv652282,nssv687151 M 2026 0 3 GAS2L2 nsv908081 17 31162186 31195703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507204 S 6533 0 1 TAF15 SP54490 esv5147 17 31235168 31236503 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27588 S 1 0 1 Single Asian sample YH "" YH nsv2039 17 31256143 31283843 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4261 S 9 1 0 RDM1 NA12878 nsv833424 17 31263000 31443589 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453262 S 95 1 0 CCL14,CCL14-CCL15,CCL15,CCL16,CCL18,CCL23,CCL3,LYZL6,RDM1 nsv833427 17 31309398 31466733 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453263,nssv1453264 M 95 0 2 CCL14,CCL14-CCL15,CCL15,CCL16,CCL18,CCL23,CCL3,CCL4 dgv945e1 17 31309398 31651855 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3242,essv644,essv2585,essv1018,essv1371,essv3961,essv19433,essv18415,essv3008,essv4117,essv13040,essv7785,essv6326,essv420,essv17766,essv20616,essv2646 M 271 0 0 CCL14,CCL14-CCL15,CCL15,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F NA07056,NA10831,NA11840,NA12249,NA18542,NA18555,NA18609,NA18852,NA18952,NA18967,NA18970,NA18974,NA18975,NA18981,NA18990,NA19005,NA19007 nsv428340 17 31309398 31981395 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453372,nssv453392,nssv453382,nssv453393,nssv453396,nssv453387,nssv453398,nssv453376,nssv453388,nssv453374,nssv453389,nssv453384,nssv453379,nssv453373,nssv453399,nssv453394,nssv453400,nssv453401,nssv453378,nssv453381,nssv453390,nssv453380,nssv453385,nssv453402,nssv453383,nssv453395,nssv453371,nssv453377,nssv453391 M 62 29 0 CCL14,CCL14-CCL15,CCL15,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,GGNBP2,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 dgv946e1 17 31309398 32016863 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3275,essv14393,essv10538,essv4505,essv1913,essv12186,essv16890,essv8474,essv7818,essv86,essv17559,essv2447,essv10446,essv766,essv2542,essv11991,essv1507,essv4836,essv5586,essv11891,essv21303,essv16498,essv3865,essv10024,essv5476,essv9230,essv8219,essv1767,essv16344,essv10892,essv7087,essv11575,essv16037,essv9006,essv2177,essv8151,essv6740,essv12333,essv9639,essv11830,essv15576,essv16730,essv17272,essv17133,essv12695,essv6038,essv15875,essv12818,essv5311,essv10755,essv3115,essv7550,essv1614,essv6140,essv17004,essv8764,essv10209,essv11140,essv14418,essv10326,essv14147,essv4072,essv15005,essv9904,essv11231,essv9382,essv4923,essv15786,essv523,essv13917,esv842,essv6921,essv4286,essv12404,essv13032,essv9113,essv8596,essv17069,essv14090,essv7688,essv14652,essv9807,essv11012,essv8367,essv10826,essv12602,essv18300,essv16749,essv15105,essv9654,essv12734,essv15388,essv2322,essv13153,essv22360,essv5101,essv3381,essv2095,essv14318,essv11919,essv4963,essv3756,essv4777,essv1122,essv11745,essv14881,essv16093,essv12509,essv15526,essv14531 M 271 0 0 CCL14,CCL14-CCL15,CCL15,CCL16,CCL18,CCL23,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,GGNBP2,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 NA10846,NA10855,NA12762,NA12875,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18507,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18529,NA18532,NA18537,NA18540,NA18545,NA18552,NA18558,NA18561,NA18562,NA18563,NA18571,NA18577,NA18603,NA18605,NA18620,NA18632,NA18633,NA18635,NA18637,NA18853,NA18854,NA18858,NA18859,NA18860,NA18861,NA18863,NA18870,NA18871,NA18872,NA18913,NA18914,NA18940,NA18942,NA18945,NA18949,NA18956,NA18960,NA18961,NA18964,NA18969,NA18972,NA18976,NA18980,NA18991,NA18994,NA18997,NA18998,NA18999,NA19003,NA19092,NA19093,NA19098,NA19099,NA19100,NA19101,NA19102,NA19116,NA19120,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19171,NA19172,NA19173,NA19193,NA19194,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19209,NA19210,NA19211,NA19221,NA19223,NA19238,NA19239,NA19240 dgv120e55 17 31396100 31501500 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34491,esv2751625,esv2751624,esv2751623 M 771 4 0 CCL18,CCL3,CCL4 BEC_379,BEC_397,BEC_529,NA18558 esv2551724 17 31400017 31401598 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236785 S 1 0 1 "" NA18507 esv2018093 17 31400201 31400884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912330 S 1 0 1 "" NA18507 esv3179 17 31400351 31400780 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25620 S 1 0 1 Single Asian sample YH "" YH esv6855 17 31400367 31400729 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29296 S 1 0 1 "" SJK esv1686656 17 31400406 31400737 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220439 S 2 0 1 "" HuRef dgv947e1 17 31401905 31651855 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv831,essv20340,essv8327,essv18450,essv19999,essv24068,essv11420,essv7301 M 271 0 0 CCL18,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F NA07048,NA10859,NA11831,NA12236,NA18592,NA18857,NA18973,NA19103 dgv948e1 17 31401905 32016863 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8810,essv11693,essv15929,essv2153,essv5259,essv2795,essv20303,essv191,essv15174,essv14930,essv3513,essv22807,essv20721,essv3163,essv2361,essv21345,essv12080,essv14240,essv23184,essv18607,essv14830,essv13712,essv15433,essv912,essv24009,essv13989,essv3582,essv21753,essv13318,essv8589,essv8674,essv18803,essv20408,essv8968,essv7884,essv4528,essv12009,essv299,essv12024,essv1064,essv5038,essv5790,essv7636,essv17352,essv4419,essv7971,essv7519,essv8994,essv988,essv21018,essv8958,essv15977,essv18832,essv9447,essv13305,essv6787,essv13456,essv5431,essv19674,essv25034,essv13826,essv23471,essv23081,essv21866,essv22493,essv7369,essv8046,essv7662,essv13107,essv10119,essv16581,essv13574,essv9535,essv15317,essv22028,essv18100,essv12938,essv7437,essv14818,essv12943,essv25024,essv8014,essv9514,essv1804,essv13385,essv8903,essv10398,essv15637,essv6849,essv16261,essv11073,essv709,essv17314,essv22751,essv751,essv2721,essv20941,essv6261,essv22701,essv212,essv3436,essv4113,essv14746,essv3922,essv23578,essv6934,essv2297,essv1706,essv23434,essv3940,essv1288,essv2952 M 271 0 0 CCL18,CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,GGNBP2,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 NA06991,NA07019,NA07034,NA10830,NA10839,NA10854,NA11839,NA11882,NA11993,NA12004,NA12006,NA12144,NA12156,NA12234,NA12239,NA12248,NA12264,NA12716,NA12751,NA12752,NA12753,NA12801,NA12812,NA12815,NA12878,NA18507,NA18508,NA18515,NA18517,NA18521,NA18529,NA18532,NA18542,NA18547,NA18558,NA18566,NA18570,NA18573,NA18576,NA18582,NA18594,NA18608,NA18624,NA18632,NA18636,NA18853,NA18856,NA18859,NA18860,NA18861,NA18862,NA18870,NA18871,NA18872,NA18912,NA18940,NA18944,NA18948,NA18956,NA18960,NA18964,NA18966,NA18968,NA18970,NA18971,NA18972,NA18978,NA18987,NA18990,NA18994,NA18995,NA18999,NA19000,NA19003,NA19012,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19130,NA19132,NA19138,NA19139,NA19140,NA19141,NA19142,NA19154,NA19159,NA19160,NA19161,NA19171,NA19192,NA19194,NA19200,NA19202,NA19206,NA19208,NA19210,NA19222,NA19240 nsv457733 17 31427152 31460645 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534860 S 1557 1 0 CCL3,CCL4 1780862402_A nsv9540 17 31429255 31889661 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23882,nssv21169,nssv25899,nssv26795,nssv23803,nssv22462,nssv23554,nssv28231,nssv23203,nssv25209,nssv26817,nssv24136,nssv23623,nssv25030,nssv24543,nssv26980,nssv28263,nssv20920,nssv23857,nssv21199,nssv24365,nssv21229,nssv20890,nssv26202,nssv25797,nssv23595,nssv25920,nssv27321,nssv25657,nssv26240,nssv24162,nssv24807,nssv25634,nssv25819,nssv26839,nssv22965,nssv24163,nssv26972,nssv24313,nssv24038,nssv24832,nssv25775,nssv26221,nssv21259,nssv25679,nssv23776,nssv25055,nssv23884,nssv22522,nssv23116,nssv22612,nssv26982,nssv26911,nssv22372,nssv26990,nssv23030,nssv23526,nssv23022,nssv24084,nssv24111,nssv23088,nssv24092,nssv24517,nssv25234,nssv25753,nssv24065,nssv27330,nssv23963,nssv23936,nssv27312,nssv26258,nssv23748,nssv24629,nssv25731,nssv24188,nssv22402,nssv24020,nssv24189,nssv22994,nssv24339,nssv23909,nssv24137,nssv26784,nssv23830,nssv23721,nssv26970,nssv22492,nssv23002,nssv24110,nssv23175,nssv22582,nssv26806,nssv28229,nssv22552,nssv26828 M 31 23 6 Samples from several populations that are part of the HapMap project. CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 essv19054 17 31429427 31501499 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCL3,CCL4 NA11830 esv29264 17 31430091 31699929 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13509,esv9974,esv10352,esv20478,esv17885,esv20566,esv19720,esv15907,esv20398,esv17537,esv18076,esv18640,esv16050,esv12469,esv18197,esv18956,esv16378,esv9898,esv18225,esv20549 M 451 30 10 CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv908082 17 31431019 31469658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583458 S 6533 1 0 CCL3,CCL4 IS36492 dgv3143n71 17 31431019 31487436 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908083,nsv908085 M 6533 3 0 CCL3,CCL4 IS38344,IS39233,MS16797 dgv3144n71 17 31431019 31511943 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908089,nsv908091,nsv908086,nsv908087,nsv908090,nsv908084 M 6533 14 0 CCL3,CCL4 IS30969,IS33256,IS35053,IS35179,IS35846,IS37044,IS41176,MS10596,MS14210,MS15410,MS15514,MS17121,MS22093,SP56426 dgv522n67 17 31432582 31504608 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827963,nsv827962 M 31 3 0 CCL3,CCL4 AK8,NA18997,NA18999 nsv523265 17 31436315 31444192 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698999 S 2026 1 0 CCL3 dgv178n21 17 31436315 31504639 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524951,nsv522835 M 2026 0 2 CCL3,CCL4 dgv3145n71 17 31436315 31889664 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908129,nsv908148,nsv908088,nsv908144,nsv908134,nsv908164,nsv908099,nsv908127,nsv908112,nsv908092,nsv908139,nsv908094,nsv908155,nsv908163 M 6533 68 0 CCL3,CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H IS31137,IS31335,IS32365,IS33588,IS34896,IS36103,IS36727,IS37157,IS37291,IS38162,IS38170,IS40157,IS41128,IS41807,MS10174,MS11057,MS12657,MS14305,MS14639,MS14837,MS15066,MS15168,MS16128,MS16385,MS17501,MS19645,MS20671,MS22227,MS22999,MS23163,MS26119,SP50032,SP50830,SP51065,SP51172,SP52234,SP52438,SP52440,SP52552,SP52851,SP52908,SP53473,SP53563,SP54030,SP54191,SP54551,SP54816,SP54999,SP55086,SP55200,SP55842,SP56125,SP56458,SP56913,SP56927,SP56975,SP57174,SP57347,SP57771,SP57965,SP58575,SP80914,SP80938,SP81064,SP81241,SP81363,SP81481,SP81526 nsv471395 17 31439716 31441619 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548158,nssv548157,nssv548159 M 3 CCL3 nsv514836 17 31440524 31520184 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628284 S 1414 1 0 CCL3,CCL4,TBC1D3B esv33166 17 31441440 31441586 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99863 S 51 1 0 CCL3 22086 esv33481 17 31448720 31449893 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101549,essv98840,essv97577,essv95099,essv94670,essv97029,essv97438,essv94497,essv99080,essv99951,essv93346,essv99190,essv97730,essv100207,essv100507,essv100370,essv98433 M 51 0 17 "" 21603,21606,21616,21721,21791,21817,21879,21932,21938,22086,22170,22275,22278,22286,22298,22300,22352 dgv121e55 17 31449476 31501500 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34841,esv2751650,esv2751659,esv34872,esv2751646,esv2751641,esv2751642,esv2751658,esv2751640,esv2751638,esv35014,esv2751637,esv34761,esv2751661,esv2751653,esv2751628,esv34355,esv2751652,esv2751660,esv34323,esv2751651,esv2751627,esv34755,esv34700,esv34226,esv34314,esv34338,esv34383,esv34514,esv34522,esv34523,esv34529,esv34556,esv34569,esv34602,esv34612,esv34747,esv34759,esv34772,esv34889,esv34894,esv35001,esv35032,esv35093,esv35108,esv34941,esv2751626,esv2751629,esv2751630,esv2751631,esv2751632,esv2751633,esv2751636,esv2751639,esv2751657,esv2751662,esv2751663,esv2751664,esv2751667,esv2751668,esv2751669,esv2751670,esv2751671,esv2751672,esv2751673,esv2751674,esv2751675,esv2751676,esv34598,esv34397 M 771 70 0 CCL4 BEC_11,BEC_16,BEC_301,BEC_304,BEC_307,BEC_353,BEC_366,BEC_373,BEC_386,BEC_387,BEC_402,BEC_428,BEC_434,BEC_448,BEC_451,BEC_513,BEC_543,BEC_563,BEC_571,BEC_584,BEC_656,BEC_713,BEC_714,BEC_716,BEC_730,BEC_738,BEC_776,BEC_793,BEC_806,BEC_826,NA07345,NA10861,NA11995,NA12004,NA12762,NA12874,NA15510,NA18507,NA18515,NA18517,NA18529,NA18547,NA18632,NA18853,NA18854,NA18861,NA18863,NA18870,NA18872,NA18956,NA18960,NA18964,NA18970,NA18972,NA18978,NA19003,NA19100,NA19102,NA19131,NA19194,NA19201,NA19238,SPC_157,SPC_168,SPC_18,SPC_189,SPC_19,SPC_23,SPC_4,SPC_47 dgv949e1 17 31450358 31501499 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23273,essv2406,essv1298,essv3651,essv1570,essv8502,essv16186,essv10979,essv5759,essv13272,essv12148,essv14910,essv13206,essv13244,essv11608,essv16384,essv7934,essv12063,essv20742,essv10724,essv7902,essv8524,essv16612,essv16573,essv9299,essv6061,essv23737,essv9287,essv12425,essv9857,essv11354,essv14039,essv11315,essv6475,essv11329,essv20543,essv14224,essv13500,essv7492,essv13355,essv18042,essv5874,essv13331,essv9579,essv8550 M 271 0 0 CCL4 NA06993,NA07345,NA07357,NA11995,NA12813,NA18500,NA18501,NA18503,NA18505,NA18506,NA18508,NA18523,NA18540,NA18561,NA18562,NA18603,NA18636,NA18852,NA18854,NA18858,NA18862,NA18863,NA18913,NA18914,NA18976,NA18980,NA18991,NA18997,NA19092,NA19120,NA19128,NA19129,NA19131,NA19137,NA19144,NA19152,NA19159,NA19172,NA19193,NA19201,NA19207,NA19208,NA19209,NA19238,NA19239 dgv122e55 17 31450358 31944821 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751654,esv2751655,esv2751634,esv34913,esv2751647,esv2751635,esv2751643,esv2751644,esv2751648,esv2751649,esv2751665,esv2751666,esv2751677,esv2751678,esv2751679,esv2751680 M 771 16 0 CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,MYO19,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 BEC_383,BEC_539,BEC_588,BEC_593,BEC_603,BEC_606,BEC_630,BEC_660,BEC_661,BEC_673,BEC_694,BEC_783,NA19132,SPC_15,SPC_17,SPC_179 dgv523n67 17 31451170 31504764 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827970,nsv827965,nsv827966,nsv827967,nsv827969,nsv827968 M 31 8 0 CCL4 AK14,AK18,AK2,NA18542,NA18547,NA18566,NA18582,NA18972 dgv3146n71 17 31454449 31504639 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908118,nsv908093,nsv908104,nsv908103,nsv908102,nsv908105 M 6533 28 0 CCL4 MS19652,SP50077,SP50137,SP50723,SP51158,SP51302,SP51483,SP51485,SP52039,SP52122,SP52160,SP52439,SP52835,SP54468,SP54471,SP54636,SP54657,SP54782,SP55381,SP55511,SP55573,SP55611,SP55808,SP55820,SP56734,SP57367,SP57599,SP58557 nsv471396 17 31455333 31457127 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548162,nssv548160,nssv548161 M 3 CCL4 nsv517262 17 31456238 31504639 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658654,nssv654155,nssv686897,nssv670097,nssv652688,nssv667638,nssv699714,nssv665147,nssv665437 M 2026 7 2 CCL4 esv33107 17 31456683 31635490 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101546,essv101468,essv98772,essv97477,essv101266,essv93805,essv100754,essv96781,essv101015,essv95150,essv98225,essv94682,essv94665,essv94012,essv101298,essv94432,essv96880,essv97895,essv95704,essv95425,essv93079,essv95375,essv97451,essv101766,essv95815,essv94527,essv98992,essv92847,essv92804,essv93646,essv96100,essv96608,essv97243,essv98598,essv99970,essv96057,essv93502,essv93216,essv99689,essv94988,essv97990,essv96548,essv99340,essv99231,essv97731,essv97766,essv100267,essv100586,essv100495,essv100435,essv100333,essv99467,essv98398,essv96276,essv94154 M 51 0 49 CCL3L1,CCL3L3,CCL4,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 esv2751645 17 31459600 32155500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983560,essv6986457 M 771 1 0 CCL3L1,CCL3L3,CCL4L1,CCL4L2,DHRS11,GGNBP2,MRM1,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 BEC_668 dgv3147n71 17 31460645 31533533 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908108,nsv908142,nsv908121,nsv908095,nsv908152 M 6533 13 0 TBC1D3B IS30467,MS23152,SP50900,SP51082,SP51309,SP51473,SP53516,SP54355,SP54524,SP54891,SP56085,SP56120,SP58553 dgv3148n71 17 31460645 31567477 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908097,nsv908098,nsv908122,nsv908124,nsv908137,nsv908125,nsv908096,nsv908123,nsv908109 M 6533 27 0 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B IS30487,IS30953,IS33188,IS33577,IS34185,IS35538,IS35833,IS38313,IS39678,IS40380,MS10590,MS10840,MS15637,MS15915,MS16921,MS18540,MS24497,MS25902,SP50649,SP50652,SP52224,SP52594,SP54123,SP55971,SP57341,SP57593,SP80960 dgv3149n71 17 31460821 31489488 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908116,nsv908117,nsv908115,nsv908100,nsv908101,nsv908114,nsv908113 M 6533 17 0 "" SP50087,SP50125,SP52093,SP52231,SP52308,SP53969,SP54467,SP54510,SP54650,SP55829,SP55868,SP55984,SP55996,SP56185,SP57013,SP80955,SP81036 esv2751656 17 31460821 31496575 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987436,essv6988721 M 771 1 0 "" BEC_633 dgv3150n71 17 31460821 31520345 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908119,nsv908107,nsv908136,nsv908132,nsv908120,nsv908106 M 6533 53 0 TBC1D3B SP50023,SP50035,SP50120,SP50148,SP50593,SP50876,SP50877,SP50880,SP50882,SP50989,SP51019,SP51051,SP51061,SP51226,SP51449,SP51489,SP52081,SP52172,SP52470,SP52566,SP53048,SP53060,SP53687,SP54362,SP54395,SP54405,SP54408,SP54614,SP54722,SP54734,SP54774,SP55100,SP55160,SP55569,SP55699,SP55729,SP55749,SP55750,SP55774,SP55946,SP55986,SP56072,SP56106,SP56224,SP56890,SP57067,SP57190,SP57274,SP57368,SP57404,SP57469,SP58215,SP80957 dgv3151n71 17 31460821 31621634 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908138,nsv908161,nsv908154,nsv908128,nsv908126,nsv908133,nsv908153,nsv908111,nsv908162,nsv908143,nsv908110 M 6533 22 0 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F SP50117,SP50561,SP50574,SP50631,SP50954,SP50985,SP51043,SP52080,SP52137,SP52858,SP54345,SP54399,SP54409,SP54606,SP54693,SP54768,SP56086,SP56089,SP57449,SP57640,SP57873,SP81010 dgv950e1 17 31461042 31494924 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11397,essv13956 M 271 0 0 "" NA19160,NA19192 esv2421587 17 31461241 31509204 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5072949,essv5008163,essv5085842,essv5071454,essv5020751,essv5065998,essv5115640,essv5075887,essv5008734,essv5104606,essv5150709,essv5141604,essv5065450,essv5096702,essv5096395,essv5108867,essv5136418,essv5048853,essv5106694,essv5120457,essv5149465,essv5086720,essv5005343,essv5016013,essv5142598,essv5111788,essv5153713,essv5082095,essv5053656,essv5081191,essv5025302,essv5085658,essv5073247,essv5131355,essv5036970,essv5032252,essv5074248,essv5137496,essv5157033,essv5142738,essv5015944,essv5058106,essv5056292,essv5004725,essv5066742,essv5049210,essv5092310,essv5083059,essv5108061,essv5151668,essv5075404,essv5101550,essv5018888,essv5029123,essv5080786,essv5007051,essv5136592,essv5021874,essv5091856,essv5031770,essv5111506,essv5038372,essv5100288,essv5157170,essv5051254,essv5084397,essv5038714,essv5005913,essv5080427,essv5041135,essv5109624,essv5111397,essv5118996,essv5060271,essv5130962,essv5091071,essv5127956,essv5059423,essv5103051,essv5049273,essv5160909,essv5105627,essv5132964,essv5036145,essv5013147,essv5147449,essv5031301,essv5055056,essv5060132,essv5090399,essv5154962,essv5002465,essv5041957,essv5138438,essv5059843,essv5006740,essv5097778,essv5065365,essv5136281,essv5136349,essv5098773,essv5105485,essv5144202,essv5079319,essv5086024,essv5021451,essv5044865,essv5119363,essv5089023,essv5028272,essv5005912,essv5061439,essv5047483,essv5040749,essv5126426,essv5155210,essv5103008,essv5122358,essv5050722,essv5104663,essv5113456,essv5030054,essv5126942,essv5050093,essv5060920,essv5062798,essv5140285,essv5139051,essv5015322,essv5013318,essv5079471,essv5082702,essv5160598,essv5147571,essv5071852,essv5154034,essv5115479,essv5161196,essv5019907,essv5012884,essv5149544,essv5083017,essv5095030,essv5086040,essv5019464,essv5096004,essv5090275,essv5124586,essv5072157,essv5030622,essv5061244,essv5088210,essv5036863,essv5080538,essv5058006,essv5093772,essv5013575,essv5115960,essv5114372,essv5033362,essv5142439,essv5148004,essv5035414,essv5133790,essv5041157,essv5109715,essv5105701,essv5017980,essv5002908,essv5022203,essv5034779,essv5124950,essv5136448,essv5003166,essv5100265,essv5089730,essv5134418,essv5153906,essv5135922,essv5137875,essv5156250,essv5108719,essv5055323,essv5124606,essv5075543,essv5015042,essv5011166,essv5069885,essv5080231,essv5123250,essv5149816,essv5066341,essv5120034,essv5141953,essv5047702,essv5101084,essv5100145,essv5012467,essv5039387,essv5092628,essv5033966,essv5069104,essv5150014,essv5137314,essv5076975,essv5158775,essv5107517,essv5083282,essv5119405,essv5007220,essv5024804,essv5142423,essv5152323,essv5077876,essv5004765,essv5155707,essv5150527,essv5103837,essv5107823,essv5151575,essv5079358,essv5017427,essv5069619,essv5036788,essv5030521,essv5154089,essv5015170,essv5102105,essv5037247,essv5002060,essv5061316,essv5149189,essv5018291,essv5070982,essv5065447,essv5077443,essv5090402,essv5028130,essv5149358,essv5156177,essv5153329,essv5134236,essv5111605,essv5104801,essv5119007,essv5153082,essv5094692,essv5050566,essv5151062,essv5020669,essv5048352,essv5064296,essv5102058,essv5093474,essv5039816,essv5048504,essv5035828,essv5016469,essv5044934,essv5103014,essv5038534,essv5158999,essv5147656,essv5074419,essv5058315,essv5051057,essv5092360,essv5088030,essv5010612,essv5147804,essv5046085,essv5090616,essv5131632,essv5003411,essv5157673,essv5075945,essv5125840,essv5026815,essv5002327,essv5022861,essv5021025,essv5105294,essv5074658,essv5145260,essv5119452,essv5009338,essv5106087,essv5064074,essv5046445,essv5087657,essv5023668,essv5047354,essv5022218,essv5075605,essv5069823,essv5126934,essv5047719,essv5030410,essv5121286,essv5160476,essv5024668,essv5087452,essv5080586,essv5132212,essv5051845,essv5138203,essv5020488,essv5027676,essv5022225,essv5152998,essv5003681,essv5023689,essv5108862,essv5049632,essv5112516,essv5079233,essv5157072,essv5084117,essv5038675,essv5086558,essv5018476,essv5120276,essv5029612,essv5103114,essv5045956,essv5118692,essv5157684,essv5051697,essv5065220,essv5151175,essv5043066,essv5003919,essv5148472,essv5073365,essv5069724,essv5093654,essv5046389,essv5125396,essv5078479,essv5011627,essv5100705,essv5022776,essv5038869,essv5010588,essv5111454,essv5059798,essv5097655,essv5131656,essv5119226,essv5104495,essv5052122,essv5159329,essv5068143,essv5150946,essv5115964,essv5089180,essv5148827,essv5150561,essv5036394,essv5027453,essv5153882,essv5011366,essv5046118,essv5032747,essv5012647,essv5028795,essv5128925,essv5125626,essv5120441,essv5111940,essv5030747,essv5061485,essv5047835,essv5039155,essv5104211,essv5103501,essv5083356,essv5156502,essv5050127,essv5127310,essv5115449,essv5068517,essv5034988,essv5046095,essv5027573,essv5131498,essv5122985,essv5107500,essv5007787,essv5046258,essv5110479,essv5044729,essv5111396,essv5151336,essv5002919,essv5069493,essv5024151,essv5017997,essv5114770,essv5154372,essv5092073,essv5092103,essv5055609,essv5138611,essv5076433,essv5080764,essv5119422,essv5151441,essv5079925,essv5084731,essv5073209,essv5128897,essv5134967,essv5070261,essv5056788,essv5125822,essv5057602,essv5159312,essv5091562,essv5150090,essv5048431,essv5048085,essv5110451,essv5024591,essv5007703,essv5040821,essv5154117,essv5036001,essv5158864,essv5042776,essv5008219,essv5021452,essv5083331,essv5041468,essv5015732,essv5098964,essv5144146,essv5124998,essv5040744,essv5108028,essv5124638,essv5029921,essv5049860,essv5111895,essv5083113,essv5066793,essv5114006,essv5002620,essv5021471,essv5055893,essv5035755,essv5017587,essv5069890,essv5130070,essv5050246,essv5049905,essv5159015,essv5117082,essv5007804,essv5088363,essv5011873,essv5008765,essv5070723,essv5041586,essv5035473,essv5064289,essv5105483,essv5061409,essv5127226,essv5131347,essv5018984,essv5004802,essv5068700,essv5073517,essv5076271,essv5060988,essv5017699,essv5044997,essv5008549,essv5070640,essv5065865,essv5147356,essv5125877,essv5006052 M 1184 483 1 "" NA06984,NA06989,NA06993,NA06995,NA07022,NA07037,NA07045,NA07345,NA07346,NA07348,NA07349,NA07357,NA07435,NA10840,NA10852,NA10861,NA10865,NA11830,NA11843,NA11892,NA11995,NA12044,NA12273,NA12283,NA12286,NA12341,NA12375,NA12383,NA12707,NA12708,NA12718,NA12739,NA12749,NA12751,NA12753,NA12761,NA12762,NA12767,NA12778,NA12801,NA12813,NA12815,NA12827,NA12865,NA12874,NA12877,NA12889,NA17965,NA17968,NA17970,NA17974,NA17979,NA17980,NA17982,NA17983,NA17993,NA18102,NA18106,NA18109,NA18114,NA18120,NA18122,NA18125,NA18127,NA18128,NA18131,NA18132,NA18133,NA18134,NA18139,NA18150,NA18151,NA18152,NA18153,NA18155,NA18157,NA18158,NA18159,NA18166,NA18485,NA18487,NA18497,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18511,NA18517,NA18529,NA18542,NA18543,NA18546,NA18558,NA18559,NA18561,NA18562,NA18566,NA18582,NA18594,NA18595,NA18599,NA18602,NA18603,NA18613,NA18616,NA18619,NA18626,NA18627,NA18630,NA18631,NA18632,NA18634,NA18636,NA18640,NA18643,NA18645,NA18674,NA18702,NA18748,NA18749,NA18852,NA18853,NA18854,NA18858,NA18859,NA18860,NA18861,NA18862,NA18867,NA18871,NA18872,NA18874,NA18875,NA18914,NA18924,NA18925,NA18934,NA18935,NA18939,NA18940,NA18955,NA18956,NA18962,NA18964,NA18968,NA18972,NA18976,NA18978,NA18979,NA18980,NA18990,NA18991,NA18994,NA18995,NA19028,NA19036,NA19041,NA19046,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19068,NA19070,NA19074,NA19076,NA19078,NA19079,NA19081,NA19088,NA19094,NA19095,NA19099,NA19101,NA19102,NA19107,NA19109,NA19114,NA19116,NA19117,NA19120,NA19121,NA19123,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19147,NA19148,NA19149,NA19151,NA19152,NA19159,NA19160,NA19171,NA19172,NA19174,NA19176,NA19179,NA19184,NA19189,NA19191,NA19192,NA19193,NA19194,NA19202,NA19206,NA19209,NA19210,NA19213,NA19215,NA19235,NA19236,NA19237,NA19238,NA19239,NA19247,NA19249,NA19258,NA19307,NA19310,NA19313,NA19315,NA19318,NA19319,NA19324,NA19332,NA19371,NA19372,NA19375,NA19381,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19396,NA19397,NA19398,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19437,NA19438,NA19440,NA19444,NA19445,NA19446,NA19449,NA19456,NA19457,NA19462,NA19466,NA19468,NA19471,NA19473,NA19474,NA19625,NA19658,NA19660,NA19661,NA19662,NA19663,NA19665,NA19670,NA19671,NA19675,NA19676,NA19685,NA19686,NA19700,NA19708,NA19711,NA19714,NA19749,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19779,NA19781,NA19795,NA19818,NA19828,NA19835,NA19909,NA19917,NA19919,NA19982,NA19983,NA20277,NA20282,NA20289,NA20290,NA20297,NA20301,NA20317,NA20319,NA20322,NA20333,NA20335,NA20336,NA20341,NA20344,NA20349,NA20356,NA20358,NA20359,NA20364,NA20502,NA20505,NA20506,NA20509,NA20525,NA20531,NA20534,NA20541,NA20589,NA20753,NA20755,NA20759,NA20760,NA20765,NA20766,NA20771,NA20787,NA20792,NA20797,NA20802,NA20808,NA20809,NA20812,NA20816,NA20847,NA20849,NA20853,NA20856,NA20861,NA20869,NA20870,NA20874,NA20877,NA20879,NA20881,NA20883,NA20884,NA20885,NA20892,NA20897,NA20901,NA20908,NA20910,NA20911,NA21091,NA21105,NA21108,NA21111,NA21117,NA21118,NA21123,NA21143,NA21301,NA21302,NA21303,NA21307,NA21309,NA21311,NA21312,NA21314,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21366,NA21367,NA21379,NA21381,NA21382,NA21385,NA21386,NA21390,NA21391,NA21399,NA21401,NA21403,NA21405,NA21417,NA21418,NA21420,NA21421,NA21424,NA21425,NA21434,NA21438,NA21439,NA21441,NA21485,NA21486,NA21487,NA21493,NA21494,NA21509,NA21510,NA21513,NA21514,NA21517,NA21520,NA21524,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21576,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21597,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21685,NA21686,NA21689,NA21716,NA21718,NA21733,NA21738,NA21739,NA21741,NA21776,NA21825,NA21826 nsv442741 17 31461241 31509204 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv269355 17 31461586 31461794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511032,essv2505127,essv2493648,essv2508681,essv2498512,essv2505700,essv2495598,essv2504837,essv2506590,essv2499788 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11995,NA18517,NA18592,NA18858,NA18861,NA18916,NA19099,NA19108,NA19225 esv2530472 17 31462024 31509831 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374417 S 1 1 0 "" NA18507 nsv433448 17 31462326 31567477 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463329 S 9 1 0 Samples from several populations that are part of the HapMap project. CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B NA18517 esv29998 17 31463252 31895171 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84237 S 2 0 1 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H HuRef dgv3152n71 17 31467924 31504639 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908130,nsv908135,nsv908131,nsv908141,nsv908140 M 6533 7 0 "" SP50904,SP54789,SP55803,SP55911,SP56084,SP56313,SP80988 nsv827971 17 31468512 31469304 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433301 S 31 1 0 "" NA18972 nsv817758 17 31469658 31489062 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417591 S 112 1 0 "" NA18972 nsv817759 17 31469658 31504639 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416503,nssv1417104,nssv1416504,nssv1418518,nssv1417717,nssv1418517 M 112 6 0 "" NA18515,NA18517,NA18529,NA18999,NA19193,NA19194 nsv526727 17 31469658 31979521 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703067 S 2026 1 0 CCL3L1,CCL3L3,CCL4L1,CCL4L2,GGNBP2,MYO19,PIGW,TBC1D3B,TBC1D3C,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 dgv3153n71 17 31475192 31511943 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908147,nsv908145,nsv908159,nsv908146,nsv908156,nsv908150 M 6533 9 0 "" SP50017,SP50691,SP50872,SP51057,SP54673,SP55565,SP55797,SP56331,SP57408 dgv3154n71 17 31480186 31504639 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908149,nsv908158,nsv908157 M 6533 6 0 "" SP50711,SP51457,SP54430,SP55019,SP55039,SP56518 dgv3155n71 17 31480186 31520345 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908160,nsv908151 M 6533 4 0 TBC1D3B SP50176,SP51021,SP57482,SP80924 nsv817760 17 31487436 31504639 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417941,nssv1415918,nssv1417940,nssv1415916 M 112 4 0 "" NA10861,NA11995,NA18853,NA18854 nsv2040 17 31498593 31642646 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10972,nssv5654,nssv9325 M 9 0 3 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F NA15510,NA18517,NA19129 dgv12n31 17 31505927 31698947 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471349,nsv471360,nsv471551 M 3 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3B,TBC1D3C,TBC1D3F nsv514837 17 31527042 31548308 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627178 S 1414 0 0 CCL3L1,CCL3L3,TBC1D3B nsv820772 17 31528216 31574283 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419931 S 1 0 1 CCL3L1,CCL3L3,CCL4L1,CCL4L2 NA10851 esv1002564 17 31532636 31538798 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586316 S 3 0 1 "" HuRef nsv514838 17 31562760 31564406 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627179 S 1414 0 0 CCL4L1,CCL4L2 nsv436845 17 31567944 31665279 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465617 S 2 1 0 Samples from several populations that are part of the HapMap project. CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3C,TBC1D3F NA18505 dgv951e1 17 31583743 31651855 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20213,essv3994,essv13757,essv4698,essv24844,essv4152,essv1469,essv2837,essv23814,essv3559,essv22892 M 271 0 0 CCL3L1,CCL3L3,TBC1D3C,TBC1D3F NA07000,NA11832,NA12760,NA12763,NA18555,NA18622,NA18944,NA18953,NA18965,NA18970,NA19153 nsv821611 17 31593139 31699929 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419932 S 1 0 1 CCL3L1,CCL3L3,CCL4L1,CCL4L2,TBC1D3C,TBC1D3F NA10851 nsv511598 17 31616055 31651825 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626227 S 1 0 1 CCL3L1,CCL3L3,TBC1D3C,TBC1D3F 1 esv987971 17 31620695 31626862 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586760 S 3 0 1 "" HuRef nsv514839 17 31634154 31665600 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627180 S 1414 0 0 CCL3L1,CCL3L3,CCL4L1,CCL4L2 esv988406 17 31635571 31640388 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586502 S 3 0 1 "" HuRef nsv471397 17 31647958 31649843 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548163,nssv548164 M 3 CCL3L1,CCL3L3 nsv112497 17 31666447 31666499 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131075 M 24 "" esv27635 17 31799991 31889304 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15108,esv20150,esv15814,esv17439,esv13174,esv16425,esv17691,esv18812,esv13644,esv14543 M 451 23 9 TBC1D3F,TBC1D3G,TBC1D3H NA11894,NA11931,NA11993,NA12006,NA12044,NA12156,NA12239,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv469796 17 31800001 31931756 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649817 M 265 6 0 Samples from several populations that are part of the HapMap project. MYO19,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 essv6619 17 31800001 31981395 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GGNBP2,MYO19,PIGW,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 NA18621 nsv471697 17 31800001 32004489 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550639,nssv550975,nssv550601,nssv550617,nssv550978,nssv550618,nssv550644,nssv550992,nssv550625,nssv550984,nssv550633,nssv550997,nssv550645,nssv550609,nssv550977,nssv550619,nssv550632,nssv550614,nssv550607,nssv550636,nssv550993,nssv550995,nssv550640,nssv550602,nssv550611,nssv550627,nssv550630,nssv550979,nssv550628,nssv550642,nssv550999,nssv550634,nssv550991,nssv550982,nssv550610,nssv550990,nssv550996,nssv550603,nssv550620,nssv550994,nssv550637,nssv550600,nssv550985,nssv550613,nssv551002,nssv550626,nssv550646,nssv550622,nssv550635,nssv550621,nssv550981,nssv550608,nssv550976,nssv550631,nssv550605,nssv550643,nssv551001,nssv550641,nssv550616,nssv550624,nssv550987,nssv550629,nssv550988,nssv550986,nssv550612,nssv550604,nssv551003,nssv550989,nssv551000,nssv550615,nssv550998,nssv550606,nssv550623,nssv550974,nssv550638,nssv550983,nssv550980 M 48 47 0 GGNBP2,MYO19,PIGW,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059,P86GA nsv471328 17 31800002 31889187 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547984,nssv547983,nssv547982 M 3 TBC1D3F,TBC1D3G,TBC1D3H nsv469738 17 31809072 31888836 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649759 M 265 9 2 Samples from several populations that are part of the HapMap project. TBC1D3F,TBC1D3G,TBC1D3H nsv469853 17 31830237 32004489 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649874 M 265 9 1 Samples from several populations that are part of the HapMap project. GGNBP2,MYO19,PIGW,TBC1D3F,TBC1D3G,TBC1D3H,ZNHIT3 nsv509654 17 31861189 31914932 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619711,nssv623713,nssv621038 M 4 3 0 TBC1D3G NA10860,NA15510,NA18994 nsv457734 17 31889664 31979521 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534861 S 1557 1 0 GGNBP2,MYO19,PIGW,ZNHIT3 1782681378_A nsv516100 17 31889664 31979521 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686837,nssv693163,nssv672621,nssv666207,nssv676214,nssv688794,nssv673306,nssv654641,nssv667523,nssv679403 M 2026 7 3 GGNBP2,MYO19,PIGW,ZNHIT3 nsv469760 17 31949258 32114334 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649781 M 265 0 2 Samples from several populations that are part of the HapMap project. DHRS11,GGNBP2,MRM1,MYO19,PIGW nsv833428 17 31967087 32017546 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453279,nssv1453266,nssv1453285,nssv1453283,nssv1453284,nssv1453280,nssv1453282,nssv1453278,nssv1453281,nssv1453288,nssv1453286,nssv1453287,nssv1453291,nssv1453290,nssv1453289,nssv1453265,nssv1453277,nssv1453269,nssv1453267,nssv1453268,nssv1453276,nssv1453270,nssv1453273,nssv1453272,nssv1453271,nssv1453275,nssv1453274 M 95 0 27 GGNBP2,PIGW essv9000 17 32018706 32097998 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DHRS11,GGNBP2,MRM1 NA19194 dgv953e1 17 32018706 32221507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv873,essv18986 M 271 0 0 DHRS11,GGNBP2,MRM1 NA12005 nsv833429 17 32036161 32221507 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453292 S 95 1 0 MRM1 nsv457736 17 32040112 32065330 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534862 S 1557 1 0 "" 1780854556_A dgv954e1 17 32049873 32104672 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14253,essv12443 M 271 0 0 "" NA19100,NA19152 nsv457737 17 32094404 32128885 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534863 S 1557 0 1 "" 1780854065_A esv33875 17 32094778 32096735 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93298 S 51 1 0 "" 22170 nsv9541 17 32107440 32110588 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26276 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv1763536 17 32146102 32146102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893614 S 2 1 0 "" HuRef nsv827972 17 32155465 32156354 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434753 S 31 1 0 "" NA18570 esv2048038 17 32171720 32172034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4718754 S 1 0 1 "" NA18507 essv13359 17 32210529 32219667 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19159 esv21525 17 32210965 32211875 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17664 S 451 1 0 "" NA12006 nsv517793 17 32214552 32215314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676581,nssv658820,nssv653281,nssv667678,nssv662143,nssv662044,nssv655549,nssv655809 M 2026 0 8 "" nsv509655 17 32215826 32329405 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619712 S 4 1 0 "" NA10860 esv2524506 17 32217308 32219070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356787 S 1 0 1 "" NA18507 esv2359605 17 32217342 32218044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782576 S 1 0 1 "" NA18507 esv3064 17 32217493 32218002 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25505 S 1 0 1 Single Asian sample YH "" YH esv1152023 17 32217550 32217869 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167874 S 2 0 1 "" HuRef dgv49n6 17 32220425 32220492 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv111753,nsv112003 M 24 "" nsv833430 17 32240519 32455752 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453295,nssv1453293,nssv1453294 M 95 2 1 AATF,LHX1 nsv528102 17 32274640 32293318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704643 S 2026 0 1 "" nsv523668 17 32302701 32303842 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699470 S 2026 1 0 "" esv23289 17 32310150 32311214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10130 S 451 0 1 "" NA19257 nsv521763 17 32317613 32320677 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694095 S 2026 1 0 "" nsv527141 17 32320677 32320918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703529 S 2026 0 1 "" nsv520562 17 32322855 32323630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697486 S 2026 0 1 "" esv2457233 17 32452440 32453983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223613 S 1 0 1 AATF NA18507 esv2315584 17 32453007 32453442 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927532 S 1 0 1 AATF NA18507 esv1366836 17 32453057 32453251 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980266 S 2 0 1 AATF HuRef nsv112350 17 32454901 32454901 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130928 M 24 AATF nsv112468 17 32455100 32455100 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131046 M 24 AATF esv2622620 17 32501764 32502749 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237170 S 1 1 0 "" NA18507 nsv821538 17 32511667 32512379 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419933 S 1 0 1 "" NA10851 nsv827973 17 32511667 32512379 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436507,nssv1437089,nssv1430973 M 31 0 3 "" NA18542,NA18592,NA18969 esv999747 17 32530517 32530517 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576543 S 3 1 0 ACACA HuRef nsv527922 17 32557264 32631402 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704429 S 2026 1 0 ACACA dgv955e1 17 32642843 32848430 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv396,essv19279 M 271 0 0 ACACA,C17orf78,TADA2A NA10838 nsv510707 17 32669740 32749856 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618943 S 4 0 1 ACACA NA10860 esv32692 17 32809213 32832671 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94239 S 51 0 1 ACACA,C17orf78 22394 nsv511589 17 32823829 32840133 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626217 S 1 0 1 ACACA 1 nsv510437 17 32828559 32834559 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618426 S 4 0 1 ACACA CHM nsv9542 17 32828825 32837243 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24857,nssv25259,nssv23050,nssv24215,nssv22642,nssv23582,nssv23911,nssv23231,nssv24391,nssv25941,nssv23651,nssv23144,nssv27339,nssv21289,nssv23775,nssv28265,nssv24047,nssv24655,nssv26910,nssv27000,nssv26992,nssv21461,nssv24214,nssv24119 M 31 22 2 Samples from several populations that are part of the HapMap project. ACACA NA07029,NA07048,NA10839,NA10863,NA11830,NA12740,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221,NA19240 nsv820411 17 32829330 32833098 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419934 S 1 0 1 ACACA NA10851 nsv827974 17 32829330 32833098 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430816,nssv1422238,nssv1431084 M 31 0 3 ACACA NA18947,NA18969,NA18997 nsv819713 17 32829486 32833158 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419568 S 2 1 0 ACACA AK1 nsv512484 17 32829596 32833080 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625083 S 1 0 1 ACACA 1 esv23271 17 32829953 32833098 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10032 S 451 25 4 ACACA NA06985,NA07037,NA11894,NA12004,NA12156,NA12239,NA12287,NA12414,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv514840 17 32829984 32832764 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628285 S 1414 0 1 ACACA dgv14n14 17 32831694 32832761 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433169,nsv433170 M 9 0 2 ACACA NA12156,NA12878 esv1010097 17 32851098 32855815 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587121 S 3 1 0 TADA2A HuRef nsv9543 17 32851118 32857501 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26921,nssv23259 M 31 0 2 Samples from several populations that are part of the HapMap project. TADA2A NA10863,NA18972 nsv435684 17 32851460 32856952 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465618 S 2 0 1 TADA2A NA15510 dgv524n67 17 32853062 32855815 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827978,nsv827977,nsv827976 M 31 0 13 TADA2A AK14,AK16,AK18,AK2,AK20,NA18526,NA18537,NA18542,NA18564,NA18570,NA18592,NA18949,NA18972 esv269790 17 32947166 32947858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516084 S 157 1 0 Samples from several populations that are part of the HapMap project. DUSP14 NA12873 nsv827979 17 32955156 32958207 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423824 S 31 0 1 SYNRG NA18999 nsv833431 17 32964856 33160621 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453296 S 95 1 0 DDX52,HNF1B,SYNRG esv274399 17 32996110 32996461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578936,essv2579518 M 7 2 0 Samples from several populations that are part of the HapMap project. SYNRG NA19239,NA19240 esv271409 17 32996111 32996446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565692,essv2571729,essv2570704,essv2548564,essv2576624,essv2525389,essv2544302,essv2547190,essv2553579,essv2576468,essv2530740,essv2539950,essv2557054,essv2561490,essv2552793,essv2549222,essv2531006,essv2528685,essv2541845,essv2570348,essv2563596,essv2535687,essv2533552,essv2567188,essv2527711,essv2573420,essv2538687,essv2560412,essv2545771,essv2574310,essv2536359,essv2548954,essv2532984,essv2554654 M 157 34 0 Samples from several populations that are part of the HapMap project. SYNRG NA06986,NA07037,NA07051,NA07346,NA11829,NA11840,NA12044,NA12045,NA12154,NA12156,NA12414,NA12717,NA12763,NA12814,NA12873,NA18489,NA18501,NA18523,NA18542,NA18564,NA18573,NA18579,NA18592,NA18593,NA18603,NA18608,NA18944,NA18947,NA18952,NA18964,NA19108,NA19190,NA19239,NA19240 dgv956e1 17 33140728 33649105 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24004,essv20435 M 271 0 0 HNF1B,LOC284100,LOC440434,TBC1D3,TBC1D3F NA10830,NA12716 dgv957e1 17 33140728 34010545 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1502,essv14481,essv23356,essv8833,essv5555,essv14586,essv13689,essv16923,essv13940,essv15990,essv14466,essv14283,essv16746,essv16325,esv406,essv13443,essv5230,essv17341,essv24988,essv15362,essv9814,essv19023,essv9735,essv15856,essv12209,essv17802,essv2905,essv1943,essv10352 M 271 0 0 ARHGAP23,GPR179,HNF1B,LOC284100,LOC440434,MRPL45,SOCS7,SRCIN1,TBC1D3,TBC1D3F NA10831,NA10839,NA12005,NA12750,NA18501,NA18506,NA18508,NA18529,NA18624,NA18854,NA18856,NA18862,NA18863,NA18872,NA18913,NA18953,NA18959,NA18980,NA19093,NA19101,NA19119,NA19144,NA19192,NA19193,NA19194,NA19201,NA19202,NA19223 nsv908166 17 33194164 33259151 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558629 S 6533 1 0 "" MS23451 dgv3156n71 17 33208725 33333394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908167,nsv908168 M 6533 2 0 LOC284100 MS12234,MS22321 nsv908169 17 33237263 33259151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591047 S 6533 0 1 "" IS38627 nsv908170 17 33237263 33298720 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559292 S 6533 1 0 LOC284100 MS23865 nsv908171 17 33237263 33333394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596076 S 6533 0 1 LOC284100 IS40396 esv269731 17 33243420 33243758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516694,essv2517456,essv2517026,essv2515350,essv2518554,essv2515178,essv2516593,essv2515767,essv2518120,essv2516129,essv2514418,essv2517684,essv2517330,essv2518261,essv2513575 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11918,NA11931,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18970,NA19240 esv272193 17 33243420 33243758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581417,essv2581172 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv908172 17 33267389 33365282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591048 S 6533 0 1 LOC284100 IS38627 nsv833432 17 33267468 33427467 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453301,nssv1453300,nssv1453297,nssv1453299,nssv1453298 M 95 2 3 LOC284100 nsv9544 17 33288407 33289565 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23610,nssv27348,nssv25992 M 31 3 0 Samples from several populations that are part of the HapMap project. LOC284100 NA18853,NA18860,NA19240 nsv428341 17 33289079 34010545 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453409,nssv453407,nssv453421,nssv453413,nssv453405,nssv453412,nssv453403,nssv453423,nssv453425,nssv453420,nssv453429,nssv453417,nssv453431,nssv453424,nssv453415,nssv453411,nssv453406,nssv453426,nssv453422,nssv453404,nssv453432,nssv453410,nssv453418,nssv453433,nssv453428,nssv453427,nssv453414,nssv453416 M 62 27 1 ARHGAP23,GPR179,LOC284100,LOC440434,MRPL45,SOCS7,SRCIN1,TBC1D3,TBC1D3F HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 dgv3157n71 17 33298720 33722935 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908188,nsv908186,nsv908173,nsv908183,nsv908178,nsv908181,nsv908184,nsv908176,nsv908187,nsv908189 M 6533 13 0 LOC284100,LOC440434,MRPL45,TBC1D3,TBC1D3F IS30506,IS38515,IS38670,IS39243,IS41648,MS11218,MS13490,MS14287,MS14495,MS15749,MS16122,MS25330,SP56913 nsv9545 17 33307576 33311565 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24241,nssv26932 M 31 2 0 Samples from several populations that are part of the HapMap project. LOC284100 NA18972,NA19007 esv28722 17 33319905 33429029 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20751,esv18608,esv20152,esv16161,esv11057,esv18722,esv11770,esv18452,esv13279,esv11850 M 451 25 12 "" NA07037,NA11894,NA11931,NA11993,NA12044,NA12156,NA12239,NA12287,NA12414,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv3158n71 17 33323543 33423677 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908177,nsv908174,nsv908179 M 6533 3 0 "" SP50080,SP56458,SP56959 nsv908175 17 33323543 33570026 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555831,nssv1577147,nssv1584965 M 6533 2 1 TBC1D3,TBC1D3F IS34363,IS37214,MS21637 nsv471329 17 33323961 33428689 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547987,nssv547986,nssv547985 M 3 "" dgv3159n71 17 33338520 33570026 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908180,nsv908185,nsv908182 M 6533 4 0 TBC1D3,TBC1D3F MS13770,MS23997,MS25814,SP55842 dgv39n68 17 33369043 33427467 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833434,nsv833433 M 95 13 49 "" esv1000427 17 33425713 33428974 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586540 S 3 0 1 "" HuRef esv28567 17 33529260 33666666 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9995,esv17200,esv13720,esv14086,esv10211,esv10607,esv10350,esv14772 M 451 27 12 LOC440434,TBC1D3,TBC1D3F NA07037,NA11894,NA11931,NA11993,NA12044,NA12156,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv471507 17 33530002 33716058 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547863,nssv547862,nssv547864 M 3 LOC440434,MRPL45,TBC1D3,TBC1D3F nsv471398 17 33541292 33552188 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548168,nssv548166,nssv548165 M 3 TBC1D3,TBC1D3F nsv820624 17 33584385 33666666 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419935 S 1 1 0 LOC440434,TBC1D3F NA10851 nsv833435 17 33585687 33697018 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453380,nssv1453369,nssv1453368,nssv1453365,nssv1453364,nssv1453367,nssv1453366,nssv1453371,nssv1453383,nssv1453370,nssv1453373,nssv1453372,nssv1453376,nssv1453382,nssv1453375,nssv1453374,nssv1453378,nssv1453381,nssv1453377,nssv1453379 M 95 17 3 LOC440434,TBC1D3F esv1001424 17 33604193 33639026 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586517 S 3 1 0 LOC440434 HuRef esv274376 17 33624210 33624295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581041 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC440434 hapmap_pooled_sample_set esv1010078 17 33654803 33659108 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586412 S 3 0 1 LOC440434 HuRef esv33106 17 33708908 33767330 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96743 S 51 1 0 GPR179,MRPL45,SOCS7 22011 nsv2041 17 33762762 33795562 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4262 S 9 1 0 SOCS7 NA12878 esv1229884 17 33796470 33796604 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670877 S 2 0 1 SOCS7 HuRef esv1311253 17 33797151 33797356 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314531 S 2 0 1 SOCS7 HuRef nsv469701 17 33803798 33955396 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649634 M 265 0 6 Samples from several populations that are part of the HapMap project. ARHGAP23,SOCS7,SRCIN1 dgv959e1 17 33803799 34010545 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv659,essv3868,essv2545,essv24678,essv1183 M 271 0 0 ARHGAP23,SOCS7,SRCIN1 NA11829,NA18951,NA18975,NA18994,NA19003 nsv908191 17 33816085 33899455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592371,nssv1593431 M 6533 0 2 ARHGAP23 IS39233,IS39417 nsv908192 17 33820526 33875130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510191 S 6533 0 1 ARHGAP23 SP54956 nsv908193 17 33835962 34064032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546940 S 6533 0 1 ARHGAP23,SRCIN1 MS17208 esv23483 17 33863142 33865247 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11211,esv13614 M 451 1 1 ARHGAP23 NA07045,NA12044 nsv833436 17 33865615 34078915 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453384 S 95 0 1 ARHGAP23,SRCIN1 esv27695 17 33869857 33942552 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16712 S 451 3 0 ARHGAP23,SRCIN1 NA18858,NA18916,NA19257 nsv9549 17 33874273 33941294 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28273 S 31 1 0 Samples from several populations that are part of the HapMap project. ARHGAP23,SRCIN1 NA19221 nsv908194 17 33938251 34136257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530883 S 6533 0 1 C17orf96,MIR4726,MIR4734,MLLT6,SRCIN1 MS10311 nsv2042 17 33945492 33962446 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4263 S 9 1 0 SRCIN1 NA12878 nsv908195 17 33968705 33991463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510192 S 6533 0 1 SRCIN1 SP54956 nsv827980 17 33975071 33975554 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431195 S 31 1 0 SRCIN1 NA18969 esv1006872 17 33986385 33986854 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586930 S 3 0 1 SRCIN1 HuRef nsv2044 17 33999357 34034160 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4264 S 9 1 0 SRCIN1 NA12878 nsv833438 17 34003220 34231045 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453385 S 95 0 1 C17orf96,CISD3,CWC25,MIR4726,MIR4734,MLLT6,PCGF2,PIP4K2B,PSMB3,SRCIN1 esv274624 17 34004290 34004569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580241,essv2580458,essv2579825,essv2580934,essv2579354 M 7 5 0 Samples from several populations that are part of the HapMap project. SRCIN1 NA12878,NA12891,NA12892,NA19238,NA19239 nsv827981 17 34015186 34016055 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422905 S 31 1 0 SRCIN1 NA18547 nsv827982 17 34030601 34037167 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431306 S 31 1 0 "" NA18969 nsv908196 17 34090751 34161883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549923 S 6533 0 1 CISD3,MIR4726,MIR4734,MLLT6,PCGF2 MS18276 dgv3160n71 17 34101021 34143051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908197,nsv908198 M 6533 0 2 CISD3,MIR4726,MIR4734,MLLT6 SP54956,SP54988 nsv470585 17 34111348 34170125 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547472 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CISD3,MIR4726,MIR4734,MLLT6,PCGF2,PSMB3 HGDP00697 esv21810 17 34114007 34115604 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19286 S 451 1 0 MLLT6 NA12044 nsv833439 17 34153640 34333532 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453386 S 95 0 1 C17orf98,CWC25,LASP1,MIR4727,PCGF2,PIP4K2B,PSMB3,RPL23,SNORA21 esv1005760 17 34213269 34219538 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564883 S 3 0 1 CWC25 HuRef nsv827983 17 34216727 34218399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425379 S 31 0 1 CWC25 AK2 nsv512485 17 34216776 34218531 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625084 S 1 0 1 CWC25 1 nsv908199 17 34219847 34295532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546941 S 6533 0 1 C17orf98,CWC25,LASP1,MIR4727,RPL23,SNORA21 MS17208 nsv2045 17 34304766 34337187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2173 S 9 1 0 LASP1,LOC100505576 NA18555 esv1193917 17 34356527 34356527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020527 S 2 1 0 FBXO47 HuRef nsv518273 17 34404031 34405895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695705 S 2026 0 1 "" nsv2046 17 34432801 34494539 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2174,nssv7327 M 9 0 2 FLJ43826,LOC100131347,PLXDC1 NA12156,NA18555 nsv833440 17 34442984 34620216 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453387 S 95 0 1 ARL5C,CACNB1,FLJ43826,LOC100131347,PLXDC1,RPL19 esv26645 17 34445738 34447572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16698,esv12577 M 451 0 2 FLJ43826 NA11993,NA12156 esv270022 17 34446404 34446489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516085 S 157 1 0 Samples from several populations that are part of the HapMap project. FLJ43826 NA12873 nsv908200 17 34488719 34526657 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590436 S 6533 1 0 LOC100131347,PLXDC1 IS38511 dgv3161n71 17 34566422 34583536 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908201,nsv908202 M 6533 0 4 ARL5C,CACNB1 SP50665,SP54225,SP55019,SP57208 nsv833441 17 34574333 34730322 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453394,nssv1453390,nssv1453389,nssv1453391,nssv1453388,nssv1453392,nssv1453393,nssv1453397,nssv1453396,nssv1453395 M 95 0 10 ARL5C,CACNB1,FBXL20,RPL19,STAC2 nsv908203 17 34580691 34659183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546942,nssv1530884 M 6533 0 2 CACNB1,RPL19,STAC2 MS10311,MS17208 nsv517435 17 34594761 34603181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652015,nssv673082 M 2026 0 2 CACNB1 nsv908204 17 34603181 34936183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572048 S 6533 1 0 CACNB1,CDK12,FBXL20,MED1,RPL19,STAC2 IS32843 nsv510709 17 34691945 34761921 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622717 S 4 0 1 FBXL20 NA18994 esv2506125 17 34700731 34702477 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333479 S 1 0 1 FBXL20 NA18507 esv2132100 17 34701492 34702466 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842944 S 1 0 1 FBXL20 NA18507 esv24997 17 34701689 34702240 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21052 S 451 0 3 FBXL20 NA18505,NA18916,NA19099 nsv827984 17 34862109 34862828 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434755 S 31 1 0 "" NA18570 nsv827985 17 34871034 34872787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432503 S 31 0 1 CDK12 AK20 esv2263528 17 34908551 34909140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994004 S 1 0 1 CDK12 NA18507 esv1352810 17 34908705 34908988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720022 S 2 0 1 CDK12 HuRef dgv50n6 17 34908706 34908987 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv111901,nsv112352 M 24 CDK12 nsv819586 17 34934413 34935020 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419022 S 2 1 0 CDK12 AK1 dgv40n68 17 34946406 35136390 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833442,nsv833443 M 95 0 3 ERBB2,MIR4728,NEUROD2,PGAP3,PNMT,PPP1R1B,STARD3,TCAP nsv521294 17 34948235 35058384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697898 S 2026 0 1 NEUROD2,PPP1R1B,STARD3 dgv3162n71 17 34962948 35119531 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908206,nsv908205 M 6533 0 6 ERBB2,NEUROD2,PGAP3,PNMT,PPP1R1B,STARD3,TCAP IS30197,IS32841,IS35007,IS41243,MS13770,MS16153 nsv908207 17 34962948 35175785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575169,nssv1586019 M 6533 0 2 C17orf37,ERBB2,GRB7,IKZF3,MIR4728,NEUROD2,PGAP3,PNMT,PPP1R1B,STARD3,TCAP IS33684,IS37646 dgv3163n71 17 35002785 35043866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908209,nsv908208 M 6533 0 3 NEUROD2,PPP1R1B SP54956,SP54988,SP55021 nsv2047 17 35012153 35047410 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1365 S 9 1 0 NEUROD2,PPP1R1B,STARD3 NA19240 dgv3164n71 17 35014728 35035936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908210,nsv908211 M 6533 0 2 NEUROD2 SP51109,SP55019 nsv908212 17 35018573 35043866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506077 S 6533 0 1 PPP1R1B SP54043 nsv457738 17 35023531 35084561 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534864 S 1557 0 1 PGAP3,PNMT,PPP1R1B,STARD3,TCAP 1780862585_A nsv516757 17 35035375 35088067 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673307,nssv654953,nssv656800,nssv674678,nssv691478,nssv676856,nssv670648,nssv671519,nssv688658,nssv693494 M 2026 0 10 PGAP3,PNMT,PPP1R1B,STARD3,TCAP nsv908213 17 35061224 35093019 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499584 S 6533 0 1 PGAP3,PNMT,STARD3,TCAP SP50159 nsv528093 17 35067606 35119531 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704631 S 2026 0 1 ERBB2,PGAP3,PNMT,STARD3,TCAP nsv908214 17 35067750 35115359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510195 S 6533 0 1 ERBB2,PGAP3,PNMT,STARD3,TCAP SP54956 nsv908215 17 35072087 35088067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510972 S 6533 0 1 PGAP3,PNMT,STARD3,TCAP SP54988 esv274928 17 35102117 35105158 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586024,essv2585694 M 1250 1 1 ERBB2 dgv3165n71 17 35116541 35133114 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908217,nsv908216,nsv908218 M 6533 4 0 ERBB2 SP54442,SP54614,SP54650,SP56200 nsv2048 17 35128461 35152367 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2966 S 9 1 0 C17orf37,ERBB2,GRB7,MIR4728 NA18555 esv275276 17 35129729 35130332 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585806 S 1250 0 1 ERBB2 nsv908219 17 35133791 35171159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510196 S 6533 0 1 C17orf37,ERBB2,GRB7,MIR4728 SP54956 esv1009212 17 35265736 35265843 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572729 S 3 0 1 IKZF3 HuRef esv1483215 17 35265798 35265906 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744409 S 2 0 1 IKZF3 HuRef esv269544 17 35358966 35359051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519149 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv112056 17 35366072 35366072 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130634 M 24 "" esv1007042 17 35382514 35383548 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587029 S 3 1 0 GSDMA HuRef nsv908220 17 35406999 35428952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503579 S 6533 1 0 CSF3,MED24,PSMD3 SP52077 nsv908221 17 35470048 35542529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543724 S 6533 0 1 MSL1,NR1D1,THRA MS16153 nsv833444 17 35496349 35690806 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453401 S 95 0 1 CASC3,MSL1,NR1D1,RAPGEFL1,THRA,WIPF2 nsv520636 17 35508215 35517723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673397,nssv679044 M 2026 0 2 NR1D1 nsv528369 17 35510219 35542529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704956 S 2026 0 1 MSL1,NR1D1 nsv525796 17 35559891 35658563 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701978 S 2026 1 0 CASC3,RAPGEFL1,WIPF2 esv2430508 17 35630942 35632438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259765 S 1 0 1 WIPF2 NA18507 esv2372222 17 35631296 35632001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891186 S 1 0 1 WIPF2 NA18507 dgv179n21 17 35641566 35658563 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525961,nsv522863 M 2026 0 2 WIPF2 nsv833445 17 35720000 35891495 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453402 S 95 0 1 GJD3,IGFBP4,RARA,TNS4,TOP2A nsv908222 17 35757767 35780499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510197 S 6533 0 1 GJD3,RARA SP54956 nsv908223 17 35784325 35862713 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517103 S 6533 1 0 IGFBP4,TOP2A SP57173 nsv908224 17 35891777 35904973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517104 S 6533 1 0 TNS4 SP57173 esv2422801 17 35918769 35919552 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286529 S 1 1 0 "" NA18507 nsv513470 17 35918859 35920337 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625874 S 1 1 0 "" 1 esv1366594 17 35919329 35919329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331668 S 2 1 0 "" HuRef esv2536793 17 35932713 35933212 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336815 S 1 1 0 "" NA18507 nsv513471 17 35932753 35932987 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625875 S 1 1 0 "" 1 esv1456154 17 35932968 35932968 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222338 S 2 1 0 "" HuRef esv259939 17 35950954 35962203 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395116 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18550 dgv960e1 17 36001826 36103630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20945,esv403 M 271 0 0 KRT222,SMARCE1 NA12801 nsv908225 17 36029932 36122006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582378 S 6533 0 1 KRT222,KRT24,SMARCE1 IS35911 esv25742 17 36075569 36076902 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19527 S 451 0 1 "" NA12828 nsv908226 17 36129935 36256743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599444 S 6533 0 1 KRT10,KRT25,KRT26,KRT27,KRT28,TMEM99 IS41634 nsv517580 17 36137258 36141325 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668046,nssv685333,nssv679539,nssv652428 M 2026 0 4 "" nsv908227 17 36146215 36171665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514717 S 6533 0 1 KRT25 SP56047 dgv3166n71 17 36146215 36204140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908229,nsv908228 M 6533 0 2 KRT25,KRT26,KRT27,KRT28 IS38431,IS39944 nsv9550 17 36298167 36545355 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28275 S 31 0 1 Samples from several populations that are part of the HapMap project. KRT23,KRT39,KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-5,KRTAP2-1,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,KRTAP4-11,KRTAP4-12,KRTAP4-7,KRTAP4-8,KRTAP4-9,LOC730755 NA19221 nsv528074 17 36322979 36325760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704610 S 2026 0 1 "" nsv908230 17 36350144 36489978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599039 S 6533 0 1 KRT39,KRT40,KRTAP1-1,KRTAP1-3,KRTAP1-5,KRTAP2-1,KRTAP2-4,KRTAP3-1,KRTAP3-2,KRTAP3-3,LOC730755 IS41317 nsv111886 17 36357635 36357635 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130464 M 24 "" esv22517 17 36387633 36393501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16283,esv19975 M 451 0 8 KRT40 NA15510,NA18508,NA18523,NA18861,NA18907,NA19099,NA19225,NA19240 esv2190143 17 36403836 36409815 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538575 S 1 0 1 KRTAP3-2,KRTAP3-3 NA18507 esv28462 17 36407885 36410279 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13775 S 451 0 1 KRTAP3-2 NA18916 esv271700 17 36430523 36430608 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517136 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set dgv3167n71 17 36434261 36539706 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908234,nsv908231,nsv908235,nsv908233 M 6533 0 4 KRTAP1-1,KRTAP1-3,KRTAP1-5,KRTAP2-1,KRTAP2-4,KRTAP4-11,KRTAP4-12,KRTAP4-7,KRTAP4-8,KRTAP4-9,LOC730755 IS41839,MS17697,MS17852,MS22854 nsv908232 17 36434261 36639889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530885 S 6533 0 1 KRTAP1-1,KRTAP1-3,KRTAP1-5,KRTAP2-1,KRTAP2-4,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,LOC730755 MS10311 esv2495620 17 36450558 36451992 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225913 S 1 0 1 KRTAP1-1 NA18507 esv2245745 17 36450885 36451363 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640921 S 1 0 1 KRTAP1-1 NA18507 esv24780 17 36456558 36464393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12985 S 451 0 2 KRTAP2-1 NA18523,NA19108 nsv442417 17 36457235 36463665 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514841 17 36457348 36461760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628286 S 1414 0 1 "" esv2751681 17 36463669 36481510 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990122,essv6985373 M 771 0 1 KRTAP2-4,LOC730755 SPC_156 nsv833446 17 36469391 36656785 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453403 S 95 1 0 KRTAP2-4,KRTAP4-1,KRTAP4-11,KRTAP4-12,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP4-6,KRTAP4-7,KRTAP4-8,KRTAP4-9,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-8,LOC730755 esv26423 17 36487049 36491292 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20300,esv18580 M 451 0 12 "" NA11894,NA12006,NA12156,NA12749,NA12828,NA18502,NA18508,NA18909,NA18916,NA19099,NA19240,NA19257 nsv112586 17 36494308 36494308 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131164 M 24 KRTAP4-7 esv1007843 17 36494456 36540699 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564764 S 3 0 1 KRTAP4-11,KRTAP4-12,KRTAP4-7,KRTAP4-8,KRTAP4-9 HuRef nsv507840 17 36497552 36503552 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620615,nssv619183 M 4 2 0 "" NA10860,NA15510 esv26633 17 36506320 36530293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17038 S 451 0 1 KRTAP4-11,KRTAP4-8,KRTAP4-9 NA18523 nsv111868 17 36506495 36506578 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130446 M 24 "" esv993415 17 36509422 36529934 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586655 S 3 0 1 KRTAP4-11,KRTAP4-9 HuRef nsv442418 17 36510770 36528661 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KRTAP4-11,KRTAP4-9 nsv112423 17 36527731 36527835 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131001 M 24 KRTAP4-11 nsv528295 17 36539706 36541317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704870 S 2026 0 1 "" esv2510666 17 36553806 36554019 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185754 S 1 1 0 "" NA18507 nsv513472 17 36553874 36554519 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625876 S 1 1 0 "" 1 dgv961e1 17 36554901 37150369 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12165,esv770 M 271 0 0 EIF1,GAST,HAP1,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT31,KRT32,KRT33A,KRT33B,KRT34,KRT35,KRT36,KRT37,KRT38,KRT42P,KRT9,KRTAP16-1,KRTAP17-1,KRTAP4-1,KRTAP4-2,KRTAP4-3,KRTAP4-4,KRTAP4-5,KRTAP9-1,KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9,LOC100505782,LOC147093 NA19101 esv1004287 17 36577657 36577746 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573223 S 3 0 1 KRTAP4-3 HuRef esv1556857 17 36577762 36577852 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783146 S 2 0 1 KRTAP4-3 HuRef nsv112381 17 36577873 36577873 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130959 M 24 KRTAP4-3 nsv111715 17 36594240 36594296 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130293 M 24 KRTAP4-1 esv996733 17 36594330 36594386 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583166 S 3 0 1 KRTAP4-1 HuRef esv1330095 17 36594337 36594394 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169904 S 2 0 1 KRTAP4-1 HuRef nsv510710 17 36621077 36692905 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620101,nssv617428,nssv618945 M 4 0 3 KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9 CHM,NA10860,NA15510 nsv9551 17 36635767 36686040 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24022,nssv20950,nssv27044,nssv27070,nssv23343,nssv27384,nssv24912,nssv22905,nssv25903,nssv24375,nssv27080,nssv24521,nssv23778,nssv23709,nssv25155,nssv26944,nssv23200,nssv26421,nssv27423,nssv28277,nssv22934,nssv24223,nssv23304,nssv27375,nssv25409,nssv27062,nssv24400,nssv24128,nssv26071,nssv21491,nssv25384 M 31 0 26 Samples from several populations that are part of the HapMap project. KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8,KRTAP9-9 NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv2049 17 36636267 36657760 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9546,nssv5655 M 9 0 2 KRTAP9-2,KRTAP9-3,KRTAP9-8 NA18507,NA19129 nsv436228 17 36636291 36650241 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465619 S 2 0 1 Samples from several populations that are part of the HapMap project. KRTAP9-2,KRTAP9-3,KRTAP9-8 NA18505 esv25995 17 36636299 36660599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17469,esv16310,esv17564,esv17100 M 451 0 10 KRTAP9-2,KRTAP9-3,KRTAP9-4,KRTAP9-8 NA18505,NA18508,NA18517,NA18523,NA18858,NA19099,NA19108,NA19129,NA19147,NA19240 nsv498870 17 36636796 36649082 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585731 S 9 0 1 KRTAP9-2,KRTAP9-3,KRTAP9-8 esv987726 17 36637033 36648603 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564712 S 3 0 1 KRTAP9-2,KRTAP9-3,KRTAP9-8 HuRef dgv67e180 17 36637553 36647822 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990862,esv991633 M 3 0 1 KRTAP9-3,KRTAP9-8 HuRef esv33487 17 36637937 36643557 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95519,essv94892 M 51 0 2 KRTAP9-3 21847,22231 nsv514842 17 36638192 36648184 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628287 S 1414 0 1 KRTAP9-3,KRTAP9-8 esv2647699 17 36639427 36655890 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237378 S 1 0 1 KRTAP9-3,KRTAP9-8 NA18507 nsv442742 17 36641086 36647291 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KRTAP9-3 esv987865 17 36641086 36647295 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586003 S 3 0 1 KRTAP9-3 HuRef nsv471399 17 36642241 36643231 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548171,nssv548170,nssv548169 M 3 KRTAP9-3 nsv112484 17 36645819 36645819 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131062 M 24 "" esv994258 17 36654295 36664171 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564432 S 3 0 1 KRTAP9-4 HuRef nsv2050 17 36667005 36710534 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5656,nssv4265,nssv10120,nssv10973,nssv1366,nssv6718,nssv2175 M 9 0 7 "" NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv160 17 36672430 36691010 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv160 S 1 0 1 "" NA15510 nsv819392 17 36674744 36686537 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418618 S 2 0 1 "" AK1 nsv512486 17 36674843 36686136 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625085 S 1 0 1 "" 1 esv2486786 17 36674878 36686526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360679 S 1 0 1 "" NA18507 dgv68e180 17 36674972 36685551 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996063,esv992394 M 3 0 1 "" HuRef nsv435682 17 36675072 36686575 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465622 S 2 0 1 "" NA15510 esv23181 17 36675163 36685731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19744 S 451 0 34 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv498871 17 36675238 36685612 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585732 S 9 0 1 "" dgv525n67 17 36675425 36685412 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827987,nsv827988 M 31 0 26 "" AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 esv33045 17 36675647 36685241 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98745,essv97543,essv93923,essv100642,essv101036,essv95125,essv98228,essv94739,essv101317,essv94453,essv96887,essv95608,essv95429,essv93161,essv95335,essv101666,essv95870,essv94478,essv98953,essv92702,essv96092,essv96726,essv98534,essv100099,essv93589,essv93383,essv94888,essv92543,essv97633,essv100179,essv100560,essv100414,essv99424,essv98507,essv94302 M 51 35 0 "" 21606,21616,21634,21656,21693,21721,21772,21791,21805,21808,21817,21841,21847,21863,21872,21909,21911,21932,21938,21944,22007,22011,22085,22086,22128,22170,22231,22233,22278,22286,22298,22300,22335,22352,22394 esv2422013 17 36676540 36684057 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033632,essv5033200,essv5048415,essv5019405,essv5053156,essv5081672,essv5094005,essv5074660,essv5035229,essv5081922,essv5159790,essv5053928,essv5083912,essv5157866,essv5063070,essv5140580,essv5079272,essv5067073,essv5153843,essv5133804,essv5092245,essv5004422,essv5066233,essv5091463,essv5077729,essv5040333,essv5044518,essv5026836,essv5084452,essv5136716,essv5042168,essv5036619,essv5020974,essv5033917,essv5141135,essv5100899,essv5115070,essv5126321,essv5053514,essv5080645,essv5084823,essv5153096,essv5101273,essv5074071,essv5072974,essv5108738,essv5101984,essv5015526,essv5114698,essv5149809,essv5004202,essv5066806,essv5118631,essv5150747,essv5044691,essv5121089,essv5135179,essv5159638,essv5048694,essv5118500,essv5154113,essv5025010,essv5152568,essv5066482,essv5130768,essv5156551,essv5114509,essv5141794,essv5071271,essv5054618,essv5029888,essv5161185,essv5017402,essv5056526,essv5005043,essv5110186,essv5003711,essv5075429,essv5138069,essv5114837,essv5103118,essv5109960,essv5102027,essv5009137,essv5152190,essv5140944,essv5085282,essv5114898,essv5131461,essv5023089,essv5042370,essv5027036,essv5048152,essv5064996,essv5054429,essv5077282,essv5118025,essv5092368,essv5095539,essv5115672,essv5024374,essv5090867,essv5116823,essv5085170,essv5137426,essv5112438,essv5005986,essv5060911,essv5017965,essv5009715,essv5096849,essv5131798,essv5024382,essv5069796,essv5072112,essv5004054,essv5107522,essv5119928,essv5144733,essv5070085,essv5121175,essv5066093,essv5011860,essv5032355,essv5141340,essv5071325,essv5115705,essv5046019,essv5106704,essv5014534,essv5053305,essv5149821,essv5085448,essv5049042,essv5033173,essv5010664,essv5034613,essv5142542,essv5088419,essv5130927,essv5113031,essv5092315,essv5055901,essv5056669,essv5123340,essv5046202,essv5145998,essv5106038,essv5103763,essv5146531,essv5017183,essv5083225,essv5004346,essv5028212,essv5002596,essv5006408,essv5081592,essv5139884,essv5157778,essv5091272,essv5141027,essv5113644,essv5160438,essv5053150,essv5060269,essv5060733,essv5010711,essv5069332,essv5068708,essv5060526,essv5029865,essv5024822,essv5131419,essv5138546,essv5085762,essv5069098,essv5027216,essv5136467,essv5026869,essv5133719,essv5114134,essv5096008,essv5127332,essv5021663,essv5157396,essv5121434,essv5061122,essv5074517,essv5080091,essv5107888,essv5125083,essv5107881,essv5015350,essv5139480,essv5114336,essv5142833,essv5013963,essv5147383,essv5058051,essv5039480,essv5004447,essv5117584,essv5009437,essv5010109,essv5055746,essv5056836,essv5087695,essv5158419,essv5023339,essv5025884,essv5052085,essv5091926,essv5034047,essv5136963,essv5150051,essv5039329,essv5133898,essv5141452,essv5146092,essv5123124,essv5095938,essv5150444,essv5070967,essv5161139,essv5099723,essv5087926,essv5143663,essv5061048,essv5115574,essv5129092,essv5041484,essv5121693,essv5078322,essv5098581,essv5159271,essv5131883,essv5150776,essv5068302,essv5042461,essv5091637,essv5019052,essv5037084,essv5035971,essv5002287,essv5134742,essv5114559,essv5124641,essv5148534,essv5094321,essv5095166,essv5116401,essv5117506,essv5005205,essv5085839,essv5042949,essv5143357,essv5021028,essv5004028,essv5081845,essv5047798,essv5027349,essv5136746,essv5038286,essv5084588,essv5066094,essv5141455,essv5026538,essv5129491,essv5030229,essv5062167,essv5059720,essv5121567,essv5102005,essv5125299,essv5071258,essv5130986,essv5008364,essv5009598,essv5074620,essv5045027,essv5158260,essv5068317,essv5143440,essv5075670,essv5062911,essv5093077,essv5010708,essv5041494,essv5122872,essv5121784,essv5004976,essv5113175,essv5144244,essv5026391,essv5147879,essv5100665,essv5136824,essv5091467,essv5035184,essv5158614,essv5019523,essv5038229,essv5040950,essv5097613,essv5068634,essv5130260,essv5051023,essv5007062,essv5122278,essv5031922,essv5052449,essv5084268,essv5059238,essv5092621,essv5099966,essv5113574,essv5118426,essv5037949,essv5098527,essv5156216,essv5086653,essv5160508,essv5126368,essv5098962,essv5048015,essv5095933,essv5015735,essv5019073,essv5060252,essv5012190,essv5082961,essv5056867,essv5085075,essv5003148,essv5150842,essv5003905,essv5040074,essv5015267,essv5079783,essv5066412,essv5015195,essv5076523,essv5030568,essv5007728,essv5020264,essv5105620,essv5144180,essv5118114,essv5026127,essv5087691,essv5122903,essv5030943,essv5124968,essv5086067,essv5113426,essv5005843,essv5020522,essv5112664,essv5146454,essv5078321,essv5132900,essv5039651,essv5121047,essv5067653,essv5123442,essv5033233,essv5033141,essv5155446,essv5002932,essv5019375,essv5111319,essv5036790,essv5076864,essv5132023,essv5108853,essv5083013,essv5114143,essv5104282,essv5131763,essv5066426,essv5002610,essv5110751,essv5016480,essv5159616,essv5042693,essv5040388,essv5152968,essv5026853,essv5082962,essv5017773,essv5072683,essv5135599,essv5024837,essv5158583,essv5115874,essv5025703,essv5023554,essv5135600,essv5100045,essv5064017,essv5080002,essv5004061,essv5054849,essv5035295,essv5065146,essv5139453,essv5101128,essv5091666,essv5010378,essv5146684,essv5038036,essv5052805,essv5076257,essv5041596,essv5049004,essv5094199,essv5074690,essv5034327,essv5067537,essv5023244,essv5045100,essv5112774,essv5047595,essv5113237,essv5016109,essv5036981,essv5139817,essv5099368,essv5080867,essv5021146,essv5015148,essv5033907,essv5021392,essv5119374,essv5143500,essv5005109,essv5040718,essv5122262,essv5159774,essv5147771,essv5087515,essv5019969,essv5008523,essv5120486,essv5051311,essv5139389,essv5096572,essv5122853,essv5157723,essv5026691,essv5100413,essv5148867,essv5005710,essv5014851,essv5046847,essv5016037,essv5047753,essv5069523,essv5007408,essv5071326,essv5084052,essv5022032,essv5107751,essv5085735,essv5091582,essv5159011,essv5039098,essv5079754,essv5123812,essv5134370,essv5139904,essv5017222,essv5120810,essv5090372,essv5159960,essv5027085,essv5085633,essv5110862,essv5090093,essv5077286,essv5128056,essv5158365,essv5151133,essv5036077,essv5123605,essv5115911,essv5093300,essv5062064,essv5056236,essv5019508,essv5148894,essv5104122,essv5128636,essv5067507,essv5094190,essv5153668,essv5133425,essv5107361,essv5062232,essv5013087,essv5071795,essv5094864,essv5101257,essv5107695,essv5012424,essv5058614,essv5047993,essv5075224,essv5156411,essv5061977,essv5142702,essv5119228,essv5002411,essv5084587,essv5061080,essv5069800,essv5074732,essv5071343,essv5070034,essv5119148,essv5019935,essv5077066,essv5110160,essv5084232,essv5140596,essv5128696,essv5018372,essv5091990,essv5004335,essv5129752,essv5043798,essv5010934,essv5142756,essv5060317,essv5030978,essv5046752,essv5002609,essv5099593,essv5087276,essv5158737,essv5011915,essv5128337,essv5153687,essv5005690,essv5080438,essv5135725,essv5138359,essv5009143,essv5135368,essv5010484,essv5128540,essv5035740,essv5035769,essv5070104,essv5150185,essv5051964,essv5126372,essv5159291,essv5094916,essv5143202,essv5147248,essv5153324,essv5096977,essv5067786,essv5092040,essv5031130,essv5047973,essv5108548,essv5033326,essv5002034,essv5031726,essv5069485,essv5005274,essv5105517,essv5017241,essv5141945,essv5155693,essv5152475,essv5110103,essv5160419,essv5159716,essv5064042,essv5143816,essv5132552,essv5088480,essv5036694,essv5050788,essv5154487,essv5105692,essv5128225,essv5102468,essv5031462,essv5080166,essv5010389,essv5121772,essv5093163,essv5122220,essv5094605,essv5035217,essv5144134,essv5127065,essv5032729,essv5154527,essv5106896,essv5130600,essv5002403,essv5083767,essv5091953,essv5128233,essv5047064,essv5085750,essv5113640,essv5024419,essv5009641,essv5151335,essv5057496,essv5099048,essv5096912,essv5111937,essv5103917,essv5142277,essv5025585,essv5111791,essv5013097,essv5155961,essv5025360,essv5071650,essv5067953,essv5008545,essv5079489,essv5097945,essv5094459,essv5047422,essv5106230,essv5109880,essv5119340,essv5084779,essv5058758,essv5019823,essv5133739,essv5064030,essv5141731,essv5022133,essv5020011,essv5118351,essv5058820,essv5042984,essv5038868,essv5115370,essv5094946,essv5110305,essv5115977,essv5144759,essv5123424,essv5018534,essv5042221,essv5025854,essv5118733,essv5077913,essv5103760,essv5138796,essv5096092,essv5091414,essv5104332,essv5053896,essv5056061,essv5133637,essv5095934,essv5016516,essv5083795,essv5125748,essv5067864,essv5012208,essv5145435,essv5023020,essv5093897,essv5015970,essv5153541,essv5154584,essv5047788,essv5129415,essv5131739,essv5105846,essv5129257,essv5156888,essv5091751,essv5139430,essv5118606,essv5064987,essv5035251,essv5091701,essv5011187,essv5139396,essv5005382,essv5148690,essv5158514,essv5114026,essv5154211,essv5004092,essv5018746,essv5030643,essv5079908,essv5051989,essv5125561,essv5053727,essv5090524,essv5023262,essv5098097,essv5006815,essv5161172,essv5038819,essv5064900,essv5116793,essv5082803,essv5138067,essv5135976,essv5083516,essv5120476,essv5094225,essv5138760,essv5129842,essv5065168,essv5145359,essv5045636,essv5046169,essv5027871,essv5088909,essv5149607,essv5147400,essv5067938,essv5021890,essv5138380,essv5137362,essv5088661,essv5004552,essv5111017,essv5059721,essv5092870,essv5134498,essv5072069,essv5150006,essv5129379,essv5062696,essv5015585,essv5134293,essv5055682,essv5121196,essv5026885,essv5068950,essv5138977,essv5119242,essv5093902,essv5085724,essv5050908,essv5042171,essv5027718,essv5058831,essv5046384,essv5050156,essv5023779,essv5039689,essv5021133,essv5009668,essv5027672,essv5153356,essv5158655,essv5008790,essv5032464,essv5044373,essv5059174,essv5030109,essv5153567,essv5029349,essv5016690,essv5007923,essv5130445,essv5093563,essv5066616,essv5053755,essv5065739,essv5007939,essv5083485,essv5036846,essv5160873,essv5138716,essv5073704,essv5031681,essv5060357,essv5044969,essv5056895,essv5090313,essv5144635,essv5005385,essv5153700,essv5029286,essv5104037,essv5022022,essv5050530,essv5007441,essv5039657,essv5044511,essv5146504,essv5106002,essv5143948,essv5025715,essv5110175,essv5112196,essv5081817,essv5077998,essv5134425,essv5133164,essv5093528,essv5028176,essv5157842,essv5141598,essv5105828,essv5010235,essv5027039,essv5022544,essv5031203,essv5026792,essv5047721,essv5022337,essv5106625,essv5101348,essv5044266,essv5060408,essv5007893,essv5068354,essv5035341,essv5056563,essv5144895,essv5161215,essv5013415,essv5085263,essv5107066,essv5153706,essv5137143,essv5093792,essv5100120,essv5137310,essv5146442,essv5128867,essv5098750,essv5020561,essv5059973,essv5116194,essv5095064,essv5098945,essv5149648,essv5040722,essv5147164,essv5004675,essv5018340,essv5092952,essv5145059,essv5144782,essv5117971,essv5104305,essv5008269,essv5014313,essv5062398,essv5051937,essv5093729,essv5048008,essv5015295,essv5091707,essv5106344,essv5093908,essv5098977,essv5078581,essv5003516,essv5115673,essv5072244,essv5132863,essv5012915,essv5013339,essv5033465,essv5091734,essv5089943,essv5082469,essv5037653,essv5071157,essv5038500,essv5074837,essv5023847,essv5106644,essv5159720,essv5155912,essv5034657,essv5097908,essv5124270,essv5079186,essv5134322,essv5026852,essv5053937,essv5080689,essv5011954,essv5130394,essv5119712,essv5068554,essv5043254,essv5054212,essv5076991,essv5008319,essv5139036,essv5110252,essv5059111,essv5087886,essv5129237,essv5105659,essv5079493,essv5083075,essv5116455,essv5015828,essv5080325,essv5106291,essv5088492,essv5041214,essv5091586,essv5088260,essv5041589,essv5085396,essv5148241,essv5103373,essv5060079,essv5068706,essv5138432,essv5111636,essv5070755,essv5082507,essv5085740,essv5019380,essv5048171,essv5035912,essv5106373,essv5036227,essv5117240,essv5126677,essv5159316,essv5010679,essv5156358,essv5063392,essv5012281,essv5022741,essv5096533,essv5063000,essv5015349,essv5078853,essv5128692,essv5045267,essv5040886,essv5017000,essv5091515,essv5006302,essv5022103,essv5110984,essv5086982,essv5037713,essv5153935,essv5073425,essv5020592,essv5092453,essv5081029,essv5129488,essv5055802,essv5064712,essv5021267,essv5079860,essv5159328,essv5079532,essv5147519,essv5141852,essv5105762,essv5095247,essv5022156,essv5099260,essv5124442,essv5058721,essv5083333,essv5061268,essv5003299,essv5114012,essv5117732,essv5153633,essv5083489,essv5049171,essv5037873,essv5133264,essv5026103,essv5110923,essv5076040,essv5093529,essv5038862,essv5039404,essv5044354,essv5158166,essv5118049,essv5013720,essv5052260,essv5063105,essv5082040,essv5146160,essv5128208,essv5112733,essv5004137,essv5071348,essv5012182,essv5154210,essv5132428,essv5151304,essv5152656,essv5087280,essv5061927 M 1184 0 1014 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12707,NA12708,NA12718,NA12739,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12890,NA12891,NA12892,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18489,NA18501,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18536,NA18537,NA18544,NA18546,NA18548,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18641,NA18642,NA18643,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18853,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18869,NA18870,NA18872,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18955,NA18956,NA18957,NA18959,NA18960,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19007,NA19009,NA19010,NA19028,NA19035,NA19041,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19117,NA19119,NA19120,NA19121,NA19122,NA19123,NA19128,NA19129,NA19131,NA19132,NA19137,NA19140,NA19142,NA19143,NA19144,NA19146,NA19148,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19174,NA19175,NA19176,NA19181,NA19182,NA19183,NA19184,NA19190,NA19193,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19236,NA19238,NA19239,NA19240,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19314,NA19315,NA19316,NA19317,NA19319,NA19321,NA19324,NA19327,NA19328,NA19334,NA19346,NA19347,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19379,NA19380,NA19381,NA19382,NA19391,NA19393,NA19394,NA19396,NA19397,NA19403,NA19404,NA19428,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19713,NA19716,NA19718,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19917,NA19921,NA19982,NA19983,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20334,NA20335,NA20336,NA20337,NA20340,NA20344,NA20345,NA20346,NA20349,NA20350,NA20357,NA20358,NA20359,NA20360,NA20364,NA20502,NA20504,NA20505,NA20506,NA20509,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20525,NA20527,NA20528,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20760,NA20761,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21510,NA21513,NA21517,NA21519,NA21521,NA21522,NA21524,NA21525,NA21528,NA21529,NA21573,NA21574,NA21575,NA21577,NA21578,NA21580,NA21587,NA21597,NA21599,NA21600,NA21601,NA21611,NA21613,NA21614,NA21616,NA21617,NA21620,NA21631,NA21632,NA21634,NA21635,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442743 17 36676540 36684057 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514843 17 36676704 36682032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628288 S 1414 0 1 "" esv2459089 17 36676767 36686562 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207174 S 1 0 1 "" NA18507 esv2360635 17 36698437 36698794 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874768 S 1 0 1 "" NA18507 nsv518572 17 36728319 36775721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696016 S 2026 0 1 KRT33A,KRT33B nsv509656 17 36729965 36794338 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619713 S 4 1 0 KRT33A,KRT33B,KRT34 NA10860 nsv9552 17 36732374 36753297 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28279 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv1007414 17 36733511 36743221 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565236 S 3 0 1 "" HuRef nsv2051 17 36758317 36785944 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1367 S 9 0 1 KRT33A,KRT33B NA19240 nsv9553 17 36760010 36779675 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27090,nssv27432,nssv26090 M 31 0 3 Samples from several populations that are part of the HapMap project. KRT33A,KRT33B NA18502,NA18860,NA19240 nsv514844 17 36760120 36779100 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628289 S 1414 0 1 KRT33A,KRT33B esv25327 17 36760471 36779150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16861 S 451 0 8 KRT33A,KRT33B NA18502,NA18508,NA18916,NA19108,NA19114,NA19190,NA19240,NA19257 esv2422104 17 36760641 36778704 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5119169,essv5011939,essv5113420,essv5073113,essv5037038,essv5060527,essv5112318,essv5080525,essv5044091,essv5069934,essv5024192,essv5034022,essv5134860,essv5002603,essv5097717,essv5095495,essv5113063,essv5107735,essv5016696,essv5085046,essv5077152,essv5078938,essv5057664,essv5004721,essv5067828,essv5147154,essv5104504,essv5045577,essv5086655,essv5060097,essv5106326,essv5148563,essv5047705,essv5125446,essv5118040,essv5035409,essv5118943,essv5023167,essv5126993,essv5159438,essv5082635,essv5035310,essv5022964,essv5128151,essv5134435,essv5125757,essv5003666,essv5018329,essv5121786,essv5067252,essv5139578,essv5019204,essv5111835,essv5160371,essv5047089,essv5136758,essv5052849,essv5046713,essv5030224,essv5043690,essv5007325,essv5029169,essv5156495,essv5136063,essv5127143,essv5149193,essv5151147,essv5066432,essv5087253,essv5119056,essv5029506,essv5156349,essv5023827,essv5024241,essv5046158,essv5052833,essv5115277,essv5042005,essv5054258,essv5068312,essv5053215,essv5065806,essv5057332,essv5130095,essv5097852,essv5104528,essv5131947,essv5055567 M 1184 0 88 KRT33B NA18485,NA18489,NA18500,NA18506,NA18508,NA18859,NA18860,NA18916,NA18917,NA18930,NA18933,NA18935,NA19028,NA19093,NA19094,NA19095,NA19098,NA19101,NA19103,NA19108,NA19113,NA19114,NA19115,NA19131,NA19140,NA19142,NA19152,NA19154,NA19182,NA19184,NA19190,NA19191,NA19200,NA19202,NA19203,NA19204,NA19209,NA19211,NA19222,NA19235,NA19237,NA19239,NA19240,NA19257,NA19307,NA19310,NA19346,NA19359,NA19371,NA19375,NA19393,NA19436,NA19444,NA19452,NA19455,NA19456,NA19700,NA19702,NA19713,NA19900,NA19902,NA19904,NA19983,NA20126,NA20127,NA20128,NA20294,NA20317,NA20336,NA21300,NA21312,NA21318,NA21339,NA21344,NA21359,NA21361,NA21370,NA21435,NA21509,NA21520,NA21573,NA21587,NA21596,NA21597,NA21634,NA21636,NA21647,NA21648 nsv457741 17 36763744 36775721 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534866 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KRT33B HGDP00942 nsv516965 17 36763744 36775721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684225,nssv653521,nssv703927,nssv678790,nssv691016,nssv675019,nssv691479,nssv685043,nssv673966,nssv675167,nssv669964,nssv657276,nssv671935,nssv673671,nssv686221,nssv660272,nssv666853,nssv665438,nssv666554,nssv663280,nssv654642,nssv658821,nssv668201,nssv665041,nssv683304,nssv691380,nssv665224,nssv658124,nssv688766,nssv657366,nssv673083,nssv663073,nssv655084,nssv660371,nssv676322,nssv654318,nssv685871,nssv677126,nssv679797,nssv703926 M 2026 0 40 KRT33B dgv23n64 17 36763744 36780688 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817761,nsv817763 M 112 0 6 KRT33B NA19093,NA19094,NA19140,NA19142,NA19239,NA19240 nsv442744 17 36764438 36776021 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KRT33B nsv438274 17 36773527 36778704 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470683,nssv470684 M 269 0 2 Samples from several populations that are part of the HapMap project. KRT33B NA18522,NA19209 nsv526464 17 36775721 36784928 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702767 S 2026 1 0 KRT33B nsv525048 17 36780688 36789385 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701093 S 2026 1 0 KRT34 nsv817764 17 36784928 36789385 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415868 S 112 1 0 KRT34 NA11992 nsv9554 17 36785202 36798980 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27100,nssv26109,nssv27441,nssv23401 M 31 4 0 Samples from several populations that are part of the HapMap project. KRT34 NA10863,NA18502,NA18860,NA19240 dgv526n67 17 36785414 36792929 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv827990,nsv827991,nsv827989 M 31 3 0 KRT34 AK16,AK4,NA18951 nsv514845 17 36785428 36790220 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628290 S 1414 1 0 KRT34 nsv499238 17 36785493 36788307 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586293 S 9 1 0 KRT34 esv24006 17 36785827 36793150 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19237 S 451 7 0 KRT34 NA18502,NA18508,NA18916,NA19108,NA19114,NA19240,NA19257 nsv513753 17 36786310 36792667 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627005 S 1 1 0 KRT34 1 nsv442745 17 36786395 36790200 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KRT34 nsv2052 17 36786796 36812396 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1368 S 9 1 0 KRT31,KRT34,LOC100505782 NA19240 nsv817765 17 36787562 36789385 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415919 S 112 1 0 KRT34 NA11994 dgv962e1 17 36841593 37150369 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15086,essv4327 M 271 0 0 EIF1,GAST,HAP1,KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT32,KRT35,KRT36,KRT38,KRT42P,KRT9,LOC147093 NA18564,NA19129 nsv510711 17 36865553 36984742 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622718 S 4 0 1 KRT13,KRT15,KRT19,KRT32,KRT35,KRT36,KRT9,LOC147093 NA18994 nsv526466 17 36890770 36944625 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702770 S 2026 1 0 KRT13,KRT15,KRT19,KRT35,KRT36 nsv524606 17 36893304 36920055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700567 S 2026 0 1 KRT13,KRT36 nsv9555 17 36897743 36983304 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24049,nssv26436,nssv24249 M 31 3 0 Samples from several populations that are part of the HapMap project. KRT13,KRT15,KRT19,KRT36,KRT9,LOC147093 NA10839,NA18504,NA18564 nsv827992 17 36898229 37040119 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440709 S 31 1 0 KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT36,KRT42P,KRT9,LOC147093 NA18564 esv34903 17 36899692 37042201 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979522,essv6979523 M 771 1 0 KRT13,KRT14,KRT15,KRT16,KRT17,KRT19,KRT42P,KRT9,LOC147093 NA18564 dgv963e1 17 36920120 36953340 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14048,essv11314 M 271 0 0 KRT15,KRT19 NA18862,NA18863 nsv442419 17 36920703 36936394 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KRT15,KRT19 nsv2053 17 36975494 37008718 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4266 S 9 1 0 KRT14,KRT9 NA12878 esv22797 17 36982900 36986273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15511,esv15848 M 451 0 2 "" NA19129,NA19240 esv1005084 17 36986459 36988631 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586944 S 3 0 1 "" HuRef nsv514846 17 36987984 36994872 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627181 S 1414 0 0 KRT14 nsv9556 17 36988009 36992630 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24076 S 31 1 0 Samples from several populations that are part of the HapMap project. KRT14 NA18564 nsv9557 17 36991285 36996015 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27449,nssv26128,nssv24426,nssv25210,nssv27072,nssv23805 M 31 0 6 Samples from several populations that are part of the HapMap project. KRT14 NA18517,NA18853,NA18860,NA18980,NA19173,NA19240 nsv827993 17 36991570 36993741 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431705 S 31 0 1 KRT14 AK18 esv22954 17 36991704 36995424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21193,esv16509 M 451 0 5 KRT14 NA18505,NA18858,NA18907,NA19129,NA19240 nsv471400 17 36992059 36996673 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548173,nssv548172 M 3 KRT14 nsv9559 17 36998799 37018970 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24103 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 esv24109 17 37007536 37009091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17632 S 451 0 1 "" NA19257 esv1007034 17 37040546 37040678 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574410 S 3 0 1 KRT42P HuRef esv1131537 17 37040554 37040686 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349106 S 2 0 1 KRT42P HuRef nsv819224 17 37042939 37043356 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418898 S 2 1 0 KRT42P AK1 nsv9560 17 37046997 37049984 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26147 S 31 0 1 Samples from several populations that are part of the HapMap project. KRT42P NA19240 nsv2055 17 37048216 37081335 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7328 S 9 1 0 KRT42P NA12156 nsv9561 17 37058714 37061632 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26166 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv268064 17 37126649 37126734 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514521,essv2515005 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12812 esv1060250 17 37139907 37139907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676047 S 2 1 0 HAP1 HuRef dgv3168n71 17 37149588 37237346 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908237,nsv908236 M 6533 0 2 FKBP10,JUP,LEPREL4,NT5C3L IS37646,MS10311 nsv833447 17 37204057 37360819 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453404 S 95 0 1 ACLY,FKBP10,KLHL10,KLHL11,LEPREL4,NT5C3L,TTC25 nsv908238 17 37212715 37295202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510198 S 6533 0 1 ACLY,FKBP10,KLHL10,KLHL11,LEPREL4,NT5C3L SP54956 nsv827994 17 37233533 37245831 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421420 S 31 1 0 NT5C3L NA18969 nsv2056 17 37333080 37380705 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1369,nssv4267,nssv6720,nssv9326,nssv2967,nssv5657 M 9 6 0 CNP,TTC25 NA12156,NA12878,NA18517,NA18555,NA19129,NA19240 nsv509658 17 37337270 37408432 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621039,nssv619714 M 4 2 0 CNP,DNAJC7,TTC25 NA10860,NA15510 esv994529 17 37355979 37357910 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564161 S 3 1 0 TTC25 HuRef nsv908239 17 37371613 37391570 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507261 S 6533 1 0 CNP,DNAJC7 SP54510 nsv908240 17 37429655 37525283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510199 S 6533 0 1 DHX58,KAT2A,NKIRAS2,ZNF385C SP54956 nsv908241 17 37458592 37572260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572696 S 6533 0 1 DHX58,HSPB9,KAT2A,KCNH4,RAB5C IS33162 dgv3169n71 17 37469504 37647616 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908243,nsv908242 M 6533 0 2 DHX58,GHDC,HCRT,HSPB9,KAT2A,KCNH4,RAB5C,STAT5B MS17208,MS18276 esv1008006 17 37549079 37550513 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564821 S 3 1 0 RAB5C HuRef nsv908244 17 37579147 37599946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510200,nssv1510973 M 6533 0 2 GHDC,HCRT,KCNH4 SP54956,SP54988 esv2450397 17 37646534 37648089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250579 S 1 0 1 STAT5B NA18507 dgv3170n71 17 37659097 37685526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908246,nsv908245 M 6533 0 2 STAT5B SP50872,SP56047 nsv908247 17 37665691 37680673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514806 S 6533 0 1 STAT5B SP56084 nsv908248 17 37677781 37700927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507505 S 6533 0 1 STAT5A,STAT5B SP54725 nsv833449 17 37680398 37826625 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453406,nssv1453405 M 95 0 2 PTRF,STAT3,STAT5A,STAT5B esv24591 17 37680871 37682509 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16393 S 451 0 1 STAT5B NA07045 nsv908249 17 37723124 37974158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597887 S 6533 0 1 ATP6V0A1,COASY,HSD17B1,MLX,NAGLU,PTRF,STAT3 IS41317 esv2561210 17 37743123 37744702 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194275 S 1 0 1 STAT3 NA18507 nsv512487 17 37743382 37744453 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625086 S 1 0 1 STAT3 1 esv22090 17 37743451 37744141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16182 S 451 0 11 STAT3 NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19114,NA19147,NA19190,NA19240 nsv820731 17 37743451 37744141 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419936 S 1 0 1 STAT3 NA10851 esv1069815 17 37743784 37744004 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767990 S 2 0 1 STAT3 HuRef nsv470586 17 37767727 37864814 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547473 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP6V0A1,PTRF,STAT3 HGDP00641 nsv908250 17 37800443 37835822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510201 S 6533 0 1 PTRF SP54956 nsv513473 17 37802641 37803087 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625878 S 1 1 0 "" 1 dgv3171n71 17 37804137 37811756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908252,nsv908251 M 6533 0 2 PTRF SP54043,SP54725 esv2428314 17 37807137 37807215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375285 S 1 0 1 "" NA18507 dgv3172n71 17 37841195 38025923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908253,nsv908254 M 6533 0 2 ATP6V0A1,COASY,FAM134C,HSD17B1,MLX,NAGLU,PSMC3IP,TUBG1 IS33504,IS39233 nsv827995 17 37883140 37884275 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432505 S 31 0 1 ATP6V0A1 AK20 esv33998 17 37910722 38710722 OTHER Inversion Stefansson et al 2005 15654335 PCR,Southern Not Provided "" S 1 AARSD1,AOC2,AOC3,AOC4,ATP6V0A1,BECN1,BRCA1,CCDC56,CCR10,CNTD1,CNTNAP1,COASY,EZH1,FAM134C,G6PC,HSD17B1,IFI35,LOC100190938,LOC388387,MLX,NAGLU,NBR1,NBR2,PLEKHH3,PSMC3IP,PSME3,RAMP2,RND2,RPL27,RUNDC1,TUBG1,TUBG2,VAT1,VPS25,WNK4 RP11 nsv908255 17 37928061 37975555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510202 S 6533 0 1 ATP6V0A1,COASY,HSD17B1,MLX,NAGLU SP54956 esv30001 17 37949423 37966231 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84240 S 2 0 1 HSD17B1,NAGLU HuRef nsv111876 17 37955040 37961266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130454 M 24 HSD17B1 nsv827996 17 38023105 38055303 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434045 S 31 1 0 "" NA18526 nsv908256 17 38059935 38088157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510203 S 6533 0 1 CCR10,PLEKHH3,TUBG2 SP54956 nsv833450 17 38066529 38230687 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453407 S 95 0 1 BECN1,CCDC56,CCR10,CNTD1,CNTNAP1,EZH1,LOC100190938,PLEKHH3,RAMP2,TUBG2,VPS25,WNK4 esv1007587 17 38086440 38100371 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563775 S 3 0 1 CCR10,CNTNAP1 HuRef nsv908257 17 38161890 38192726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510204 S 6533 0 1 LOC100190938,RAMP2,VPS25,WNK4 SP54956 nsv827998 17 38184585 38202352 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432506 S 31 0 1 VPS25,WNK4 AK20 nsv908258 17 38273320 38394933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585369 S 6533 0 1 AARSD1,AOC4,G6PC,LOC388387,RUNDC1 IS37428 nsv457742 17 38313321 38425007 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534867 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AARSD1,G6PC,IFI35,RPL27,RUNDC1,VAT1 HGDP00076 nsv2057 17 38352399 38385873 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7329 S 9 1 0 AARSD1 NA12156 nsv112322 17 38372737 38372946 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130900 M 24 AARSD1 esv1503826 17 38372771 38372911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215829 S 2 0 1 AARSD1 HuRef esv1214844 17 38373100 38373100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656211 S 2 1 0 AARSD1 HuRef esv2522077 17 38429471 38430151 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295598 S 1 1 0 "" NA18507 nsv457743 17 38444655 38552381 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534868 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BRCA1,NBR2 HGDP01028 nsv908259 17 38467522 38531642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550728,nssv1522513 M 6533 0 2 BRCA1,NBR2 MS18554,SP53196 nsv470587 17 38475122 38552380 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547474 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BRCA1,NBR2 HGDP01028 nsv827999 17 38475591 38481177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437820 S 31 0 1 BRCA1 NA18949 nsv510712 17 38710803 38766400 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618946,nssv622719 M 4 0 2 NBR1,TMEM106A NA10860,NA18994 esv6011 17 38735060 38756580 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28452 S 1 0 0 "" SJK nsv513754 17 38736008 38822702 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627006 S 1 1 0 LOC100130581 1 nsv512489 17 38736710 38821537 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625089 S 1 0 1 LOC100130581 1 esv2500922 17 38736719 38756589 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219989 S 1 0 0 "" NA18507 dgv16e197 17 38736719 38823440 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing esv2525296,esv2619780 M 1 0 0 LOC100130581 NA18507 nsv513755 17 38737134 38756572 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627007 S 1 1 0 "" 1 esv7163 17 38737159 38819151 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29604 S 1 0 0 LOC100130581 SJK nsv512490 17 38737898 38755856 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625090 S 1 0 1 "" 1 nsv436739 17 38738055 38738146 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465624 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436062 17 38738117 38756135 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465625 S 2 1 0 "" NA15510 nsv513709 17 38738656 38756683 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626961 S 1 0 0 "" 1 dgv3173n71 17 38750451 38877192 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908261,nsv908262 M 6533 2 0 ARL4D,LOC100130581 IS39643,MS24151 esv2635118 17 38751940 38756557 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288138 S 1 1 0 "" NA18507 esv27086 17 38753713 38756749 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21151,esv19818 M 451 6 3 "" NA06985,NA12239,NA12776,NA12828,NA18502,NA18861,NA18907,NA19147,NA19257 nsv821115 17 38755421 38756749 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419938 S 1 1 0 "" NA10851 nsv513710 17 38756687 38822299 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626962 S 1 0 0 LOC100130581 1 nsv833451 17 38762512 38932040 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453408 S 95 0 1 ARL4D,DHX8,LOC100130581,MIR2117 nsv833452 17 38766476 38842446 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453409,nssv1453410 M 95 0 2 ARL4D,LOC100130581 nsv2058 17 38777604 38805931 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1370,nssv10122,nssv5658 M 9 3 0 LOC100130581 NA18956,NA19129,NA19240 nsv908263 17 38779391 38804206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550172 S 6533 1 0 LOC100130581 MS18332 nsv470588 17 38779779 39049134 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547475 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARL4D,DHX8,ETV4,LOC100130581,MIR2117 HGDP00854 esv32844 17 38780759 38825561 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97612,essv101254,essv93811,essv101066,essv95220,essv98310,essv94100,essv96902,essv95750,essv95314,essv101769,essv94578,essv99015,essv96226,essv97088,essv96043,essv93545,essv92616,essv97616,essv100385,essv96262 M 51 2 19 LOC100130581 21616,21618,21634,21693,21721,21772,21802,21817,21841,21872,21909,21932,21938,22007,22075,22127,22128,22233,22278,22300,22371 nsv511585 17 38789186 38795762 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626213 S 1 0 1 "" 1 esv1004573 17 38790012 38792374 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563895 S 3 1 0 "" HuRef esv29221 17 38792120 38797927 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19061,esv15633,esv10560,esv16402 M 451 7 15 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA12006,NA12287,NA12749,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190,NA19240,NA19257 nsv820833 17 38792120 38797977 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419939 S 1 1 0 "" NA10851 nsv828000 17 38792120 38800014 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423826,nssv1434757,nssv1421431,nssv1429464,nssv1430215,nssv1436228 M 31 6 0 "" AK12,AK14,NA18566,NA18570,NA18969,NA18999 esv2574109 17 38792671 38794806 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325762 S 1 0 1 "" NA18507 nsv512491 17 38793012 38796093 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625091 S 1 0 1 "" 1 esv1008151 17 38793210 38796125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564210 S 3 0 1 "" HuRef dgv527n67 17 38793228 38797977 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828001,nsv828004,nsv828002 M 31 0 4 "" AK4,AK8,NA18552,NA18951 nsv828003 17 38793228 38800014 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424623 S 31 0 1 "" NA18582 esv2051727 17 38793359 38795945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882602 S 1 0 1 "" NA18507 esv4792 17 38793485 38796015 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27233 S 1 0 1 Single Asian sample YH "" YH esv8050 17 38793513 38795756 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30491 S 1 0 1 "" SJK nsv828005 17 38793535 38795530 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437091 S 31 0 1 "" NA18542 nsv828006 17 38794620 38797977 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432508 S 31 0 1 "" AK20 nsv820245 17 38795301 38801738 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419773 S 2 0 1 "" AK1 nsv828007 17 38795661 38797977 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433304,nssv1437092 M 31 0 2 "" NA18542,NA18972 nsv514847 17 38795920 38797836 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627182 S 1414 0 0 "" nsv513756 17 38818394 38822604 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627008 S 1 1 0 LOC100130581 1 dgv528n67 17 38820192 38821321 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828011,nsv828009 M 31 2 0 LOC100130581 NA18564,NA18969 nsv828010 17 38820192 38822342 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430976 S 31 1 0 LOC100130581 AK16 esv2136442 17 38822257 38822648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646402 S 1 0 1 "" NA18507 nsv513474 17 38846376 38846828 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625879 S 1 1 0 "" 1 esv1638895 17 38846569 38846569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214966 S 2 1 0 "" HuRef nsv833453 17 38864523 39045455 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453413,nssv1453411,nssv1453412 M 95 1 2 DHX8,ETV4,MIR2117 nsv828012 17 38872237 38873534 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425381 S 31 1 0 "" AK2 esv26732 17 38872802 38874073 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17908 S 451 6 5 "" NA07037,NA11993,NA11995,NA12006,NA12156,NA12414,NA12776,NA12878,NA18505,NA18508,NA18916 nsv821447 17 38872802 38874295 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419940 S 1 0 1 "" NA10851 nsv828013 17 38872802 38874295 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430978,nssv1437821,nssv1434758,nssv1427911,nssv1424624,nssv1438493,nssv1421464,nssv1436530,nssv1432509,nssv1427122,nssv1434046,nssv1430273,nssv1426194,nssv1425382,nssv1422929,nssv1439353,nssv1435482,nssv1430841 M 31 0 18 "" AK16,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18973 nsv828014 17 38872932 38873534 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423007,nssv1437093 M 31 0 2 "" NA18542,NA18552 esv1447978 17 38885519 38885519 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178405 S 2 1 0 "" HuRef nsv2059 17 38969898 39004023 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2968 S 9 1 0 ETV4 NA18555 esv6222 17 38987247 38987338 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28663 S 1 1 0 "" SJK nsv828015 17 38989545 38993428 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440020 S 31 0 1 "" NA18537 esv987914 17 39026341 39028213 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564416 S 3 0 1 "" HuRef nsv908264 17 39048132 39178751 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593958 S 6533 1 0 MEOX1 IS39643 nsv908265 17 39048921 39350557 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532343 S 6533 1 0 C17orf105,C17orf88,CD300LG,DUSP3,MEOX1,MPP2,MPP3,SOST MS10764 nsv908266 17 39084825 39127117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581730 S 6533 0 1 MEOX1 IS35701 nsv819106 17 39094767 39098704 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419590 S 2 1 0 MEOX1 AK1 nsv908267 17 39160785 39234600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583551 S 6533 1 0 C17orf105,DUSP3,MPP3,SOST IS36527 nsv2060 17 39161535 39195131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5661 S 9 1 0 SOST NA19129 nsv524189 17 39171292 39176612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700072 S 2026 0 1 "" esv27934 17 39216753 39225081 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18749 S 451 1 0 C17orf105 NA12489 esv2223967 17 39275290 39275894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967988 S 1 0 1 "" NA18507 nsv908268 17 39319609 39357414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593959 S 6533 1 0 C17orf88,MPP2 IS39643 esv26094 17 39332270 39332860 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13203 S 451 1 0 MPP2 NA19257 esv993450 17 39372275 39378543 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563793 S 3 0 1 PPY HuRef nsv833454 17 39373742 39591205 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453414 S 95 0 1 C17orf53,G6PC3,HDAC5,LSM12,NAGS,PPY,PYY,TMEM101 nsv112219 17 39409356 39409356 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130797 M 24 PYY nsv833455 17 39541447 39730194 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453418,nssv1453417,nssv1453416,nssv1453415,nssv1453419,nssv1453420,nssv1453421,nssv1453422 M 95 0 8 ASB16,ATXN7L3,C17orf53,C17orf65,HDAC5,SLC4A1,TMUB2,UBTF nsv908269 17 39541948 39655804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546944 S 6533 0 1 ASB16,ATXN7L3,C17orf53,C17orf65,HDAC5,TMUB2,UBTF MS17208 nsv908270 17 39541948 39793208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586021 S 6533 0 1 ASB16,ATXN7L3,C17orf53,C17orf65,FAM171A2,GRN,HDAC5,RUNDC3A,SLC25A39,SLC4A1,TMUB2,UBTF IS37646 esv2578814 17 39561995 39562547 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318520 S 1 1 0 "" NA18507 nsv513475 17 39562650 39563222 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625880 S 1 1 0 "" 1 nsv908271 17 39581073 39701505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592373 S 6533 0 1 ASB16,ATXN7L3,C17orf53,C17orf65,SLC4A1,TMUB2,UBTF IS39233 dgv529n67 17 39603798 39679338 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828017,nsv828016 M 31 2 0 ASB16,ATXN7L3,C17orf65,TMUB2,UBTF NA18969,NA18973 nsv908272 17 39628915 39658433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511538 S 6533 0 1 ATXN7L3,UBTF SP55021 nsv510713 17 39634073 39773281 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620102 S 4 0 1 RUNDC3A,SLC25A39,SLC4A1,UBTF NA15510 dgv3174n71 17 39637853 39658433 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908274,nsv908273 M 6533 0 2 UBTF SP54956,SP54988 esv29087 17 39651109 39654567 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17922 S 451 0 2 UBTF NA07045,NA19129 nsv112063 17 39673986 39675990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130641 M 24 "" nsv908275 17 39683019 39769007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546945 S 6533 0 1 RUNDC3A,SLC25A39,SLC4A1 MS17208 dgv3175n71 17 39726327 39823330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908276,nsv908277 M 6533 0 3 FAM171A2,GRN,ITGA2B,RUNDC3A,SLC25A39 IS39233,IS39417,SP54956 nsv908278 17 39740627 39758794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510975 S 6533 0 1 RUNDC3A,SLC25A39 SP54988 nsv2061 17 39743892 39777945 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1371 S 9 1 0 RUNDC3A,SLC25A39 NA19240 esv2451459 17 39764940 39765359 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279968 S 1 1 0 "" NA18507 esv1628251 17 39765114 39765114 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921043 S 2 1 0 "" HuRef dgv3176n71 17 39779191 39805042 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908279,nsv908280 M 6533 0 2 FAM171A2,GRN SP51109,SP55021 esv26446 17 39786367 39788305 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20522 S 451 0 1 FAM171A2 NA07045 nsv908281 17 39823330 39925872 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577686,nssv1598619,nssv1566960 M 6533 2 1 GPATCH8 IS31022,IS34523,IS41317 nsv908282 17 39823330 39934408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596822 S 6533 1 0 GPATCH8 IS40646 nsv908283 17 39823330 39979930 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571079,nssv1569560 M 6533 1 1 GPATCH8 IS31617,IS32533 nsv820313 17 39823609 39828177 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419643 S 2 0 1 GPATCH8 AK1 nsv828018 17 39830409 39831441 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432510 S 31 0 1 GPATCH8 AK20 nsv908284 17 39833113 39863370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514719 S 6533 0 1 GPATCH8 SP56047 nsv908285 17 39849711 39979930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597538,nssv1595011,nssv1591829,nssv1566820,nssv1597915 M 6533 0 5 GPATCH8 IS30925,IS39046,IS40067,IS41224,IS41243 nsv112474 17 39945096 39946338 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131052 M 24 "" nsv527258 17 40005308 40011269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703663 S 2026 0 1 "" esv2068719 17 40023775 40024188 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788329 S 1 0 1 "" NA18507 nsv908286 17 40057582 40276455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565974,nssv1568033 M 6533 0 2 ADAM11,C17orf104,CCDC43,DBF4B,GJC1 IS30539,IS31187 nsv833456 17 40072682 40258767 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453425,nssv1453424,nssv1453423 M 95 2 1 ADAM11,C17orf104,CCDC43,DBF4B,GJC1 nsv908287 17 40088730 40111498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514720 S 6533 0 1 C17orf104,CCDC43 SP56047 nsv828020 17 40095982 40096604 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434759 S 31 1 0 C17orf104 NA18570 nsv112452 17 40103453 40110442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131030 M 24 C17orf104,CCDC43 nsv111783 17 40158600 40159186 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130361 M 24 DBF4B nsv828021 17 40219814 40261978 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421486 S 31 1 0 GJC1 NA18969 nsv908288 17 40240992 40278924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514721 S 6533 0 1 GJC1 SP56047 nsv523493 17 40248321 40276455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699262 S 2026 0 1 GJC1 nsv833457 17 40328069 40495152 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453426 S 95 0 1 C1QL1,CCDC103,DCAKD,EFTUD2,GFAP,KIF18B,NMT1 nsv527788 17 40332718 40659391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704280 S 2026 0 1 ACBD4,C1QL1,CCDC103,DCAKD,FMNL1,GFAP,HEXIM1,HEXIM2,KIF18B,NMT1,PLCD3 nsv516758 17 40337025 40344614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662144,nssv676741,nssv674975,nssv670649 M 2026 0 4 GFAP esv989371 17 40348288 40355783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564512 S 3 0 1 GFAP HuRef esv29905 17 40357044 40357972 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11095 S 451 0 1 "" NA18505 nsv908289 17 40388751 40462370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592375 S 6533 0 1 C1QL1,DCAKD IS39233 dgv3177n71 17 40391786 40406871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908290,nsv908291,nsv908295,nsv908292,nsv908293 M 6533 0 5 C1QL1 SP51109,SP52493,SP54043,SP54672,SP54725 nsv908294 17 40393735 40413111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510976 S 6533 0 1 C1QL1 SP54988 nsv527366 17 40410565 40411244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703797 S 2026 0 1 "" nsv112559 17 40446934 40447686 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131137 M 24 "" esv2438788 17 40483663 40485257 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300931 S 1 0 1 DCAKD NA18507 esv1217416 17 40484617 40484829 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026239 S 2 0 1 DCAKD HuRef dgv3178n71 17 40532330 40571807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908298,nsv908296 M 6533 0 3 ACBD4,NMT1,PLCD3 IS34005,MS17208,MS18276 nsv908297 17 40532330 40613722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543725 S 6533 0 1 ACBD4,HEXIM1,HEXIM2,NMT1,PLCD3 MS16153 dgv3179n71 17 40541346 40598315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908301,nsv908299 M 6533 0 3 ACBD4,HEXIM1,HEXIM2,NMT1,PLCD3 MS10311,MS10769,SP54956 nsv908300 17 40541346 40692263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592376 S 6533 0 1 ACBD4,C17orf46,FMNL1,HEXIM1,HEXIM2,LOC100133991,NMT1,PLCD3 IS39233 nsv522514 17 40554524 40555820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705883 S 2026 0 1 PLCD3 esv1790779 17 40566233 40567384 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810321 S 2 0 0 ACBD4 HuRef nsv828022 17 40570376 40593702 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421497 S 31 1 0 ACBD4,HEXIM1 NA18969 esv2516666 17 40572846 40574299 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345226 S 1 0 1 ACBD4 NA18507 esv2061968 17 40573199 40573726 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518008 S 1 0 1 ACBD4 NA18507 esv3428 17 40573269 40573666 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25869 S 1 0 1 Single Asian sample YH ACBD4 YH nsv2062 17 40578525 40605766 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1372 S 9 1 0 HEXIM1,HEXIM2 NA19240 esv994531 17 40602482 40612148 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565352 S 3 0 1 HEXIM2 HuRef nsv512492 17 40612087 40614418 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625092 S 1 0 1 "" 1 esv2512242 17 40613015 40615028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202569 S 1 0 1 "" NA18507 nsv908302 17 40647937 40685551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510208 S 6533 0 1 FMNL1,LOC100133991 SP54956 nsv908303 17 40654171 40732230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576754 S 6533 0 1 C17orf46,FMNL1,LOC100133991,MAP3K14 IS34235 esv1004857 17 40668350 40675090 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563836 S 3 0 1 FMNL1 HuRef esv269245 17 40719769 40719854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518174 S 157 1 0 Samples from several populations that are part of the HapMap project. MAP3K14 NA12872 esv273337 17 40739454 40739731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580693 S 7 1 0 Samples from several populations that are part of the HapMap project. MAP3K14 NA19238 esv1039922 17 40783150 40783225 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144599 S 2 0 1 "" HuRef nsv428342 17 40799337 41006867 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453451 S 62 1 0 ARHGAP27,LRRC37A4,MIR4315-1,MIR4315-2,PLEKHM1 NA19096 dgv964e1 17 40813669 41072668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12008,essv10976,essv14205,essv3671 M 271 0 0 ARHGAP27,C17orf69,CRHR1,LOC644172,LRRC37A4,MGC57346,MIR4315-1,MIR4315-2,PLEKHM1 NA18913,NA18943,NA19092,NA19141 esv627 17 40813669 41171794 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ARHGAP27,C17orf69,CRHR1,LOC644172,LRRC37A4,MGC57346,MIR4315-1,MIR4315-2,PLEKHM1 nsv511056 17 40815030 40967180 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621640 S 4 0 0 ARHGAP27,LRRC37A4,MIR4315-1,MIR4315-2,PLEKHM1 NA15510 dgv965e1 17 40815480 41015758 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12065,essv11613,essv25051,essv14805,essv13493,essv13290 M 271 0 0 ARHGAP27,LRRC37A4,MIR4315-1,MIR4315-2,PLEKHM1 NA12801,NA18870,NA18914,NA19202,NA19207,NA19238 nsv908304 17 40822808 40880294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592377 S 6533 0 1 ARHGAP27,PLEKHM1 IS39233 dgv123e55 17 40826543 41022689 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34307,esv34266,esv34577,esv35084 M 771 0 4 ARHGAP27,LRRC37A4,MIR4315-1,MIR4315-2,PLEKHM1 NA07034,NA12814,NA18505,NA18969 esv22600 17 40852005 40853085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15823 S 451 0 1 ARHGAP27 NA12749 esv1009543 17 40852254 40852254 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579498 S 3 1 0 ARHGAP27 HuRef nsv9562 17 40864626 40889950 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28281 S 31 1 0 Samples from several populations that are part of the HapMap project. ARHGAP27,PLEKHM1 NA19221 dgv966e1 17 40897439 41015758 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14924,essv1042,essv7929,essv3664,essv11385,essv3330,essv18490,essv12955,essv15435,essv18041,essv19710,essv11,essv15963,essv11394,essv6469,essv1648,essv1697,essv13105,essv9556,essv16381,essv11305,essv17862,essv9966,essv1972,essv13368,essv13961,essv2356,essv3850,essv23287,essv13283,essv8407 M 271 0 0 LRRC37A4,MIR4315-1,MIR4315-2,PLEKHM1 NA06993,NA10857,NA12006,NA12156,NA12236,NA18637,NA18859,NA18861,NA18863,NA18942,NA18945,NA18948,NA18953,NA18961,NA18968,NA18975,NA18991,NA18995,NA19093,NA19102,NA19127,NA19129,NA19142,NA19159,NA19160,NA19172,NA19192,NA19201,NA19204,NA19206,NA19209 dgv124e55 17 40897439 41022689 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35055,esv34924 M 771 0 2 LRRC37A4,MIR4315-1,MIR4315-2,PLEKHM1 NA10857,NA12802 dgv967e1 17 40897439 41089766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8516,essv21872,essv16615,essv12125,essv20689,essv8985,essv19049,essv3449,essv9576,essv3939 M 271 0 0 C17orf69,CRHR1,LOC644172,LRRC37A4,MGC57346,MIR4315-1,MIR4315-2,PLEKHM1 NA06991,NA07034,NA12802,NA18501,NA18523,NA18956,NA18970,NA19173,NA19194,NA19208 nsv509659 17 40914367 40967180 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619715,nssv618122,nssv623714 M 4 3 0 LRRC37A4,PLEKHM1 CHM,NA10860,NA18994 esv33076 17 40926182 41031220 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94029,essv96173,essv93486,essv96451,essv99287,essv97624,essv100387,essv98358 M 51 3 5 LRRC37A4 21802,22007,22128,22261,22275,22278,22300,22352 nsv9563 17 40927895 41062697 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23910,nssv25235,nssv25975,nssv23457,nssv24182,nssv26450,nssv27092,nssv23832,nssv23429,nssv24130,nssv28315,nssv23737,nssv25434,nssv23360,nssv24547,nssv24156,nssv26215,nssv24154,nssv26234,nssv21499,nssv23332,nssv24681,nssv24633,nssv28317,nssv28313,nssv20980,nssv22992,nssv21010,nssv23228,nssv21521,nssv20975,nssv24937,nssv24305,nssv22963,nssv25924,nssv24180,nssv24452,nssv23937,nssv27082 M 31 21 12 Samples from several populations that are part of the HapMap project. CRHR1,LOC644172,LRRC37A4,MGC57346 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18975,NA18980,NA19144,NA19173,NA19221,NA19240 esv26189 17 40929257 41067483 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13385,esv9840,esv18251,esv10738,esv10598,esv18214,esv10783,esv17285,esv18131 M 451 28 13 CRHR1,LOC644172,LRRC37A4,MGC57346 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv161 17 40929636 40950911 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv161 S 1 1 0 LRRC37A4 NA15510 nsv2063 17 40929636 40973216 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9967,nssv10974,nssv2177,nssv10123,nssv4268,nssv10975,nssv6722,nssv4269,nssv2176,nssv5662 M 9 7 0 LRRC37A4 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129 nsv524234 17 40938465 41013704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700124 S 2026 0 1 LRRC37A4 nsv442746 17 40941539 41004287 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LRRC37A4 nsv820961 17 40945184 40953438 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419941 S 1 1 0 LRRC37A4 NA10851 nsv514848 17 40947844 40953280 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627183 S 1414 0 0 LRRC37A4 nsv162 17 40950280 40970427 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv162 S 1 1 0 LRRC37A4 NA15510 nsv2064 17 40973796 41019235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6723 S 9 0 1 "" NA12156 dgv968e1 17 40977732 41171794 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23067,essv21461 M 271 0 0 C17orf69,CRHR1,LOC644172,MGC57346 NA12717,NA12812 nsv833458 17 41000969 41140944 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453428,nssv1453429,nssv1453427 M 95 3 0 C17orf69,CRHR1,LOC644172,MGC57346 dgv530n67 17 41006655 41014698 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828024,nsv828027,nsv828023 M 31 3 0 "" AK14,AK8,NA18537 dgv531n67 17 41006655 41017955 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828025,nsv828026 M 31 2 0 "" NA18570,NA18592 nsv820458 17 41006655 41019998 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419942 S 1 1 0 "" NA10851 nsv442747 17 41006741 41015665 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv969e1 17 41006823 41015758 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2556,essv20540,essv20854,essv978,essv729,essv738,essv4096,essv14259,essv13993,essv8672,essv8049,essv17367,essv4331,essv9837,essv5012,essv14836,essv18505,essv21897,essv11324,essv21593,essv24318,essv12932,essv12076,essv25153,essv21948,essv14936,essv13403,essv3619,essv8078,essv22801,essv7883,essv1796 M 271 0 0 "" NA07000,NA10838,NA11829,NA11839,NA11882,NA11995,NA12155,NA12753,NA12763,NA18517,NA18529,NA18564,NA18571,NA18872,NA18940,NA18964,NA18966,NA18971,NA18974,NA19003,NA19094,NA19098,NA19099,NA19100,NA19101,NA19103,NA19119,NA19128,NA19132,NA19140,NA19144,NA19161 dgv125e55 17 41006823 41022689 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34971,esv34801,esv34998,esv34232,esv35061,esv34594,esv34948,esv34974,esv35021,esv34268 M 771 10 0 "" NA07055,NA11993,NA11994,NA12239,NA12717,NA12751,NA12812,NA12865,NA12878,NA12891 dgv126e55 17 41006823 41049321 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751684,esv35162,esv2751683 M 771 3 0 LOC644172 BEC_348,BEC_603,NA10859 dgv970e1 17 41006823 41049321 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13310,essv12144,essv7970,essv1294,essv5873,essv8007,essv17215,essv14032,essv8027,essv3609,essv13330,essv511,essv2746 M 271 0 0 LOC644172 NA18500,NA18505,NA18507,NA18562,NA18857,NA18862,NA18871,NA18952,NA18965,NA18969,NA18980,NA19221,NA19240 dgv971e1 17 41006823 41072668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5835,essv10601 M 271 0 0 C17orf69,CRHR1,LOC644172,MGC57346 NA18524,NA19211 nsv514849 17 41007032 41015040 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628293 S 1414 0 0 "" nsv2066 17 41025629 41058131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10124 S 9 1 0 CRHR1,LOC644172,MGC57346 NA18956 esv270744 17 41025858 41027541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516740 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 nsv457744 17 41074926 41140560 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534869 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf69,CRHR1 HGDP00868 nsv2067 17 41155833 41190993 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4271 S 9 1 0 CRHR1 NA12878 esv1593331 17 41162317 41162389 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269634 S 2 0 1 CRHR1 HuRef esv268910 17 41174695 41175021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520793,essv2557005,essv2552353,essv2532388,essv2562652,essv2569607,essv2558744,essv2566772,essv2551187,essv2569075,essv2543729,essv2556351,essv2527919,essv2562193,essv2575457,essv2560767,essv2524077,essv2560856,essv2572806,essv2545046,essv2560235,essv2551596 M 157 22 0 Samples from several populations that are part of the HapMap project. CRHR1 NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18516,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA19099,NA19116,NA19129,NA19137,NA19143,NA19172,NA19190,NA19257 esv275304 17 41187857 41190684 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585324 S 1250 0 1 CRHR1 dgv3180n71 17 41192249 41291627 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908306,nsv908305 M 6533 0 3 CRHR1,IMP5,LOC100128977 MS10311,MS16153,MS17208 nsv833460 17 41231722 41326291 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453430 S 95 0 1 CRHR1,IMP5,LOC100128977 nsv908307 17 41247968 41297401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597345 S 6533 0 1 CRHR1,IMP5,LOC100128977 IS40799 nsv522515 17 41278960 41279463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705884 S 2026 0 1 IMP5,LOC100128977 nsv518110 17 41281077 41282569 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695523 S 2026 0 1 LOC100128977 dgv127e55 17 41360800 42166300 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751750,esv2751734,esv2751692,esv2751747,esv2751742,esv2751735,esv2751732,esv2751733,esv2751685,esv2751691,esv2751694,esv2751695,esv2751697,esv2751705,esv2751741,esv2751748,esv2751749,esv2751756 M 771 18 0 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,MAPT,NSF,NSFP1,STH BEC_101,BEC_126,BEC_191,BEC_316,BEC_359,BEC_397,BEC_41,BEC_497,BEC_512,BEC_549,BEC_603,BEC_644,BEC_711,BEC_722,BEC_826,SPC_10,SPC_188,SPC_25 nsv510714 17 41389278 41460698 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618947 S 4 0 1 MAPT,STH NA10860 esv2751686 17 41395400 41719833 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981253,essv6981254 M 771 1 0 KIAA1267,LOC644246,MAPT,STH BEC_374 nsv469705 17 41402506 41560265 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649726 M 265 0 7 Samples from several populations that are part of the HapMap project. KIAA1267,MAPT,STH nsv2068 17 41427543 41462421 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1373 S 9 1 0 MAPT,STH NA19240 nsv469537 17 41435315 41596496 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649646 M 265 1 4 Samples from several populations that are part of the HapMap project. KIAA1267,MAPT nsv471698 17 41435316 41734030 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548952,nssv548955,nssv550122,nssv548962,nssv548950,nssv550153,nssv548967,nssv548973,nssv548963,nssv550126,nssv548953,nssv550141,nssv550147,nssv550137,nssv550121,nssv548966,nssv550115,nssv548964,nssv548965,nssv550138,nssv550139,nssv550117,nssv550120,nssv550127,nssv550124,nssv550144,nssv550145,nssv548971,nssv548956,nssv550151,nssv550152,nssv550150,nssv550114,nssv548954,nssv550132,nssv548976,nssv548959,nssv550118,nssv550130,nssv550113,nssv550129,nssv548981,nssv550133,nssv550123,nssv550134,nssv548968,nssv550131,nssv550148,nssv548975,nssv550135,nssv548969,nssv548977,nssv550125,nssv548961,nssv548978,nssv548980,nssv550119,nssv548972,nssv548974,nssv550142,nssv548970,nssv550136,nssv550154,nssv548979,nssv550128,nssv548951,nssv550140,nssv550116,nssv550143,nssv548958,nssv548960,nssv550149,nssv548957,nssv550146,nssv548982,nssv548949 M 48 1 44 ARL17B,KIAA1267,LOC644246,LRRC37A,MAPT JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA15724,NA15725,NA15726,NA15727,NA15728,NA15729,NA15730,NA15731,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059,P86GA dgv972e1 17 41439751 41734030 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18224,essv22592,essv21787,essv24756,essv21683,essv21553,essv18754,essv19168 M 271 0 0 ARL17B,KIAA1267,LOC644246,LRRC37A,MAPT NA07348,NA10860,NA12057,NA12239,NA12248,NA12865,NA12873,NA12874 dgv973e1 17 41439751 41958405 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17673,essv20304,essv17523,essv19700,essv24372,essv20200,essv22451,essv20796,essv23059,essv19903,essv18120,essv18362,essv21308,essv23130,essv21425,essv18834 M 271 0 0 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,MAPT,NSFP1 NA11832,NA11881,NA11993,NA11994,NA12144,NA12146,NA12264,NA12707,NA12717,NA12751,NA12761,NA12762,NA12812,NA12813,NA12878,NA12891 dgv974e1 17 41439751 42268630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23272,essv21918,essv19837,essv24216,essv20310,essv19306,essv19772,essv18657,essv22331,essv23295,essv22271,essv4852,essv23187,essv21578,essv25140,essv21356,essv20447,essv18816,essv20986,essv19620,essv21844,essv18533,essv22000,essv22514,essv17790,essv24120,essv22005,essv17616,essv21152,essv23092,essv17994,essv23781,essv23750,essv18465,essv24461,essv22734,essv23642,essv20550,essv24345,essv23530,essv18963,essv18037,essv21106,essv18899,essv17688,essv23610,essv19359,essv113,essv24067,essv20825 M 271 0 0 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,MAPT,NSF,NSFP1,WNT3 NA06985,NA06993,NA06994,NA07019,NA07022,NA07048,NA07055,NA07345,NA10831,NA10835,NA10839,NA10847,NA10854,NA10855,NA10859,NA10860,NA10863,NA11832,NA11839,NA11882,NA11994,NA11995,NA12005,NA12006,NA12043,NA12057,NA12144,NA12146,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12717,NA12753,NA12762,NA12763,NA12815,NA12865,NA18540,NA18968 dgv975e1 17 41439751 42268630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21293,essv17422,essv20107,essv25002,essv22752,essv23432,essv22232,essv20135 M 271 0 0 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,MAPT,NSF,NSFP1,WNT3 NA07019,NA07048,NA07345,NA10839,NA10854,NA10855,NA12043,NA12044 dgv976e1 17 41439751 42632332 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv848,essv24917,essv7601 M 271 0 0 ARL17A,ARL17B,CDC27,GOSR2,KIAA1267,LOC644246,LRRC37A,LRRC37A2,MAPT,NSF,NSFP1,RPRML,WNT3,WNT9B NA06994,NA18545 dgv128e55 17 41450308 41719833 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751729,esv2751698,esv34316,esv2751738,esv35008,esv2751702,esv2751722,esv2751751,esv34642,esv2751739,esv2751716,esv2751710,esv2751724,esv2751725,esv34326,esv2751721,esv2751693,esv2751719,esv2751718,esv2751744,esv2751709,esv2751688,esv34723,esv2751746,esv2751754,esv34211,esv34225,esv34241,esv34256,esv34343,esv34374,esv34584,esv34589,esv34641,esv34695,esv34740,esv34887,esv34946,esv35089,esv34587,esv2751687,esv2751689,esv2751690,esv2751696,esv2751699,esv2751700,esv2751701,esv2751703,esv2751704,esv2751706,esv2751707,esv2751708,esv2751712,esv2751713,esv2751714,esv2751715,esv2751717,esv2751720,esv2751723,esv2751726,esv2751727,esv2751728,esv2751730,esv2751731,esv2751736,esv2751737,esv2751740,esv2751745,esv2751752,esv2751753 M 771 70 0 KIAA1267,LOC644246,MAPT BEC_103,BEC_175,BEC_22,BEC_289,BEC_299,BEC_303,BEC_304,BEC_312,BEC_314,BEC_335,BEC_348,BEC_353,BEC_355,BEC_371,BEC_395,BEC_402,BEC_433,BEC_501,BEC_535,BEC_546,BEC_561,BEC_563,BEC_578,BEC_597,BEC_636,BEC_647,BEC_669,BEC_671,BEC_674,BEC_685,BEC_688,BEC_695,BEC_717,BEC_727,BEC_730,BEC_8,NA07022,NA10847,NA10859,NA11839,NA11881,NA11993,NA12005,NA12144,NA12146,NA12234,NA12236,NA12264,NA12707,NA12717,NA12751,NA12761,NA12812,NA12874,NA12878,NA12891,SPC_1,SPC_108,SPC_128,SPC_153,SPC_162,SPC_163,SPC_180,SPC_183,SPC_194,SPC_29,SPC_38,SPC_47,SPC_93,SPC_99 esv6819 17 41456494 41456567 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29260 S 1 1 0 MAPT SJK nsv516807 17 41465321 42148466 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684314,nssv672016,nssv659797,nssv675258,nssv689668,nssv653920,nssv665687,nssv684503,nssv656434,nssv660247,nssv691158,nssv658913,nssv664105,nssv680964,nssv704510,nssv692847,nssv678391,nssv659686,nssv680996,nssv653977,nssv682369,nssv656209,nssv668954,nssv692120,nssv668270,nssv671261,nssv691724,nssv655181,nssv676197,nssv668756,nssv660510,nssv692966,nssv668901,nssv668405,nssv662883,nssv674367,nssv685440,nssv655810,nssv657220,nssv668987,nssv658048,nssv674658,nssv671089,nssv683743,nssv681799,nssv654824,nssv678668,nssv667026,nssv662247,nssv686898,nssv658347,nssv689115,nssv679540,nssv654776,nssv693206,nssv672762,nssv694030,nssv692058,nssv672374,nssv690549,nssv689702,nssv653460,nssv665517,nssv690324,nssv663621,nssv689789,nssv693332,nssv653726,nssv690497,nssv655665 M 2026 69 1 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,NSF,NSFP1 dgv366n27 17 41465690 41648797 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457752,nsv457749,nsv457750,nsv457747 M 1557 4 0 KIAA1267,LOC644246 1780862592_A,1780862594_A,NINDS_205,NINDS_66 nsv2069 17 41467598 41498847 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10125 S 9 1 0 KIAA1267 NA18956 nsv457748 17 41474116 41648797 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534871 S 1557 0 1 KIAA1267,LOC644246 NINDS_162 nsv908309 17 41496568 41641308 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593580,nssv1539023 M 6533 1 1 KIAA1267,LOC644246 IS39453,MS14010 dgv3181n71 17 41496568 41648797 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908310,nsv908308 M 6533 18 0 KIAA1267,LOC644246 IS32800,IS33857,MS11273,MS12684,MS13040,MS13253,MS15083,MS16078,MS17148,MS19606,MS20355,MS21308,MS23789,MS23889,MS24265,MS25177,MS25486,MS25627 nsv470589 17 41496568 41705866 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547476,nssv547477 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1267,LOC644246 HGDP01303,HGDP01305 dgv3182n71 17 41496568 41710573 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908312,nsv908311 M 6533 10 4 KIAA1267,LOC644246 IS37044,IS37103,IS37353,IS38515,IS39205,IS39784,IS41908,MS12674,MS18311,MS18911,MS20702,MS21528,MS24077,MS24867 dgv3183n71 17 41496568 41755843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908324,nsv908313,nsv908320,nsv908314,nsv908318,nsv908317,nsv908316,nsv908322,nsv908321 M 6533 17 0 ARL17B,KIAA1267,LOC644246,LRRC37A IS32365,IS39011,MS12188,MS12506,MS15118,MS16259,MS17605,MS18695,MS18828,MS23133,MS23210,MS23648,MS25373,MS25902,SP50876,SP54680,SP55542 nsv908315 17 41496568 42143493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538947 S 6533 1 0 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,NSF,NSFP1 MS13867 dgv129e55 17 41513416 41719833 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751743,esv2751755,esv2751711 M 771 0 3 KIAA1267,LOC644246 BEC_24,BEC_508,BEC_547 nsv821687 17 41515374 42125543 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421322,nssv1421325,nssv1421323 M 31 3 0 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,NSF,NSFP1 dgv977e1 17 41518102 41760200 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19840,essv18269,essv21625,essv18497,essv19732,essv23698,essv19146,essv21004,essv20377,essv24945,essv23665,essv19890,essv24339,essv24176,essv24593,essv18540,essv21409,essv19499,essv17735,essv24018,essv20497,essv18008,essv20641,essv25071,essv18783,essv23320,essv19116,essv21636 M 271 0 0 ARL17B,KIAA1267,LOC644246,LRRC37A NA06991,NA07348,NA10830,NA10846,NA10859,NA10863,NA11881,NA11882,NA11992,NA11993,NA12044,NA12156,NA12234,NA12264,NA12707,NA12740,NA12751,NA12761,NA12812,NA12864,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892 esv33048 17 41518251 42049569 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101581,essv98873,essv97499,essv101155,essv93854,essv96840,essv101101,essv95137,essv98275,essv94742,essv94006,essv96884,essv97955,essv95753,essv93122,essv97370,essv101727,essv95897,essv94516,essv99028,essv92939,essv92775,essv96196,essv96598,essv93588,essv99659,essv98100,essv96460,essv99261,essv97641,essv97776,essv100576,essv100449,essv99401,essv98500,essv96405,essv94282 M 51 36 1 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,NSF,NSFP1 21603,21606,21616,21618,21634,21659,21693,21721,21772,21791,21802,21817,21837,21841,21863,21879,21909,21911,21932,21938,21939,21944,22007,22011,22128,22217,22259,22261,22275,22278,22298,22300,22335,22352,22371,22394 nsv833461 17 41519537 41644115 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453431,nssv1453440,nssv1453445,nssv1453448,nssv1453443,nssv1453446,nssv1453433,nssv1453432,nssv1453450,nssv1453438,nssv1453437,nssv1453442,nssv1453449,nssv1453441,nssv1453436,nssv1453435,nssv1453439,nssv1453444,nssv1453447,nssv1453434 M 95 20 0 KIAA1267,LOC644246 dgv367n27 17 41519743 41648797 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457794,nsv457811,nsv457782,nsv457753,nsv457755,nsv457784,nsv457820,nsv457765,nsv457802,nsv457798,nsv457792,nsv457795,nsv457764,nsv457806,nsv457769,nsv457812,nsv457781,nsv457817,nsv457800,nsv457819,nsv457776,nsv457810,nsv457780,nsv457766,nsv457809,nsv457786,nsv457756,nsv457778,nsv457775,nsv457793,nsv457814,nsv457813,nsv457788,nsv457761,nsv457808,nsv457789,nsv457799,nsv457801,nsv457777,nsv457803,nsv457791,nsv457768,nsv457767,nsv457779,nsv457790,nsv457797,nsv457783,nsv457804,nsv457787,nsv457771,nsv457815,nsv457772,nsv457754,nsv457805,nsv457763,nsv457770,nsv457816 M 1557 57 0 KIAA1267,LOC644246 HGDP00011,HGDP00015,HGDP00019,HGDP00043,HGDP00056,HGDP00058,HGDP00062,HGDP00070,HGDP00080,HGDP00082,HGDP00094,HGDP00099,HGDP00108,HGDP00116,HGDP00122,HGDP00134,HGDP00137,HGDP00149,HGDP00153,HGDP00155,HGDP00177,HGDP00199,HGDP00309,HGDP00319,HGDP00351,HGDP00376,HGDP00428,HGDP00444,HGDP00519,HGDP00524,HGDP00526,HGDP00527,HGDP00534,HGDP00594,HGDP00639,HGDP00666,HGDP00670,HGDP00696,HGDP00697,HGDP00732,HGDP00805,HGDP00806,HGDP00881,HGDP00894,HGDP00898,HGDP01073,HGDP01076,HGDP01079,HGDP01152,HGDP01172,HGDP01300,HGDP01303,HGDP01305,HGDP01369,HGDP01374,HGDP01377,HGDP01378 nsv9564 17 41521002 42142391 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23597,nssv26288,nssv21551,nssv23764,nssv27112,nssv21125,nssv24733,nssv26955,nssv26464,nssv26492,nssv26478,nssv28321,nssv24685,nssv23418,nssv21559,nssv21040,nssv25511,nssv25260,nssv23886,nssv24784,nssv23818,nssv27122,nssv26270,nssv23859,nssv27102,nssv24711,nssv23513,nssv23964,nssv23485,nssv24234,nssv23284,nssv24707,nssv23312,nssv21095,nssv25488,nssv21529,nssv23020,nssv27110,nssv23256,nssv27054,nssv24504,nssv23446,nssv23791,nssv25285,nssv23569,nssv23340,nssv28319,nssv26965,nssv26252,nssv24809,nssv21005,nssv23048,nssv24206,nssv24478,nssv24232,nssv23913,nssv24208,nssv24258,nssv23541,nssv21035,nssv24962,nssv24331,nssv24659,nssv24759,nssv21100,nssv25995 M 31 25 6 Samples from several populations that are part of the HapMap project. ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,NSF,NSFP1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 esv21783 17 41521114 42141957 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12384,esv9865,esv16188,esv15493,esv20286,esv14877,esv10857,esv16294,esv20060,esv13532,esv15571 M 451 28 13 ARL17A,ARL17B,KIAA1267,LOC644246,LRRC37A,LRRC37A2,NSF,NSFP1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv514850 17 41521520 41647328 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628294 S 1414 1 0 KIAA1267,LOC644246 esv29951 17 41521544 41645038 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84190 S 3 1 0 KIAA1267,LOC644246 WATSON nsv442748 17 41521619 41719991 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIAA1267,LOC644246 nsv433449 17 41521621 41709662 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463330 S 9 1 0 Samples from several populations that are part of the HapMap project. KIAA1267,LOC644246 NA12878 esv2422002 17 41521621 41717786 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096389,essv5055089,essv5051050,essv5063699,essv5087468,essv5111226,essv5116034,essv5039366,essv5014369,essv5016045,essv5042939,essv5088700,essv5048464,essv5111167,essv5100768,essv5111589,essv5152250,essv5156206,essv5087619,essv5040842,essv5057022,essv5144698,essv5077002,essv5075972,essv5021884,essv5058028,essv5150038,essv5070452,essv5124652,essv5003880,essv5029204,essv5002200,essv5123439,essv5026632,essv5035072,essv5056469,essv5055189,essv5083476,essv5035244,essv5046222,essv5019984,essv5151807,essv5029906,essv5029504,essv5010807,essv5122857,essv5097111,essv5090957,essv5150001,essv5091439,essv5108717,essv5057713,essv5118443,essv5042056,essv5102982,essv5128666,essv5132259,essv5116640,essv5019471,essv5072342,essv5113328,essv5141429,essv5028865,essv5036528,essv5039574,essv5137040,essv5083563,essv5051265,essv5015771,essv5012168,essv5148756,essv5040215,essv5083106,essv5016860,essv5014893,essv5112448,essv5140058,essv5146035,essv5127473,essv5059766,essv5119126,essv5039196,essv5013546,essv5095215,essv5151289,essv5040780,essv5155144,essv5113836,essv5056868,essv5062769,essv5090076,essv5051293,essv5014033,essv5081229,essv5037527,essv5140506,essv5140424,essv5024425,essv5149653,essv5146988,essv5074480,essv5007396,essv5048525,essv5035897,essv5142837,essv5134773,essv5112761,essv5144924,essv5029501,essv5025644,essv5036520,essv5031182,essv5108775,essv5130737,essv5111004,essv5126697,essv5117375,essv5118043,essv5158023,essv5012308,essv5123553,essv5059992,essv5063913,essv5059228,essv5057936,essv5151415,essv5130672,essv5003896,essv5148785,essv5002777,essv5069248,essv5003222,essv5077572,essv5087645,essv5091229,essv5123402,essv5068149,essv5075166,essv5080139,essv5113056,essv5147362,essv5002535,essv5058527,essv5131979,essv5037444,essv5032999,essv5142086,essv5156170,essv5144752,essv5008260,essv5023650,essv5091342,essv5076652,essv5107187,essv5098817,essv5112696,essv5143785,essv5087395,essv5076403,essv5003406,essv5014722,essv5110551,essv5043337,essv5013808,essv5049338,essv5098190,essv5005753,essv5055322,essv5106424,essv5027669,essv5125846,essv5067260,essv5128519,essv5077252,essv5121157,essv5095156,essv5019534,essv5090615,essv5036495,essv5102379,essv5076357,essv5110552,essv5143430,essv5049057,essv5141971,essv5120293,essv5092820,essv5115903,essv5003952,essv5043091,essv5030920,essv5057741,essv5079153,essv5066636,essv5056729,essv5076714,essv5159269,essv5035363,essv5131070,essv5143120,essv5090192,essv5138145,essv5041475,essv5088787,essv5088561,essv5058703,essv5125142,essv5021646,essv5054396,essv5047247,essv5099396,essv5071287,essv5066605,essv5137329,essv5048201,essv5081228,essv5057071,essv5135546,essv5087704,essv5134310,essv5132928,essv5005468,essv5151107,essv5103462,essv5039791,essv5025078,essv5030318,essv5136093,essv5034354,essv5154064,essv5020764,essv5130129,essv5072976,essv5006071,essv5132629,essv5156607,essv5049375,essv5079136,essv5047000,essv5060110,essv5016140,essv5083514,essv5069818,essv5092372,essv5143088,essv5114354,essv5007913,essv5144473,essv5137509,essv5125125,essv5063092,essv5022442,essv5124107,essv5052043,essv5018996,essv5066293,essv5125178,essv5039797,essv5047184,essv5119022,essv5030233,essv5091199,essv5109241,essv5097205,essv5018392,essv5057704,essv5007117,essv5036494,essv5082977,essv5155894,essv5160551,essv5044389,essv5138381,essv5155398,essv5034987,essv5097248,essv5006025,essv5007206,essv5039377,essv5137955,essv5089829,essv5154965,essv5107527,essv5061562,essv5067765,essv5097597,essv5022042,essv5146985,essv5114460,essv5097725,essv5040207,essv5081937,essv5110452,essv5030155,essv5075054,essv5046100,essv5127412,essv5076661,essv5130077,essv5027069,essv5131124,essv5059838 M 1184 302 0 KIAA1267,LOC644246 NA06984,NA06985,NA06986,NA06989,NA06993,NA06994,NA06995,NA06997,NA07022,NA07031,NA07037,NA07045,NA07055,NA07345,NA07346,NA07347,NA07348,NA07349,NA10830,NA10831,NA10835,NA10836,NA10837,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10859,NA10863,NA10864,NA10865,NA11832,NA11839,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12044,NA12045,NA12057,NA12144,NA12146,NA12155,NA12156,NA12234,NA12239,NA12248,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12342,NA12344,NA12347,NA12348,NA12383,NA12386,NA12399,NA12707,NA12718,NA12739,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12761,NA12762,NA12763,NA12766,NA12767,NA12776,NA12777,NA12778,NA12812,NA12813,NA12815,NA12817,NA12828,NA12832,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12889,NA12890,NA12891,NA12892,NA19085,NA19445,NA19649,NA19650,NA19651,NA19653,NA19657,NA19663,NA19665,NA19675,NA19678,NA19680,NA19684,NA19686,NA19701,NA19708,NA19711,NA19713,NA19716,NA19718,NA19720,NA19726,NA19746,NA19749,NA19750,NA19771,NA19777,NA19778,NA19780,NA19784,NA19788,NA19789,NA19818,NA19819,NA19828,NA19834,NA19836,NA19982,NA19983,NA19985,NA20281,NA20297,NA20317,NA20319,NA20334,NA20335,NA20347,NA20360,NA20363,NA20364,NA20505,NA20506,NA20509,NA20510,NA20512,NA20515,NA20517,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20529,NA20530,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20543,NA20581,NA20586,NA20588,NA20753,NA20755,NA20756,NA20758,NA20759,NA20760,NA20761,NA20765,NA20768,NA20769,NA20771,NA20773,NA20774,NA20778,NA20786,NA20787,NA20790,NA20795,NA20797,NA20799,NA20800,NA20802,NA20803,NA20807,NA20808,NA20809,NA20810,NA20812,NA20816,NA20818,NA20826,NA20828,NA20846,NA20847,NA20849,NA20852,NA20854,NA20856,NA20858,NA20862,NA20866,NA20871,NA20872,NA20873,NA20874,NA20879,NA20881,NA20882,NA20883,NA20885,NA20888,NA20892,NA20894,NA20895,NA20896,NA20898,NA20899,NA20901,NA20903,NA20904,NA20906,NA20907,NA20908,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21353,NA21408,NA21417,NA21436,NA21512,NA21514,NA21599,NA21601,NA21608,NA21615,NA21632,NA21683,NA21722,NA21826 dgv24n64 17 41525626 41605885 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817766,nsv817768 M 112 5 0 KIAA1267 NA10835,NA12043,NA12248,NA12740,NA12751 dgv368n27 17 41525626 41609400 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457757,nsv457760,nsv457758,nsv457759 M 1557 4 0 KIAA1267 HGDP00224,HGDP00313,HGDP00682,HGDP01174 dgv25n64 17 41525626 41705867 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817769,nsv817767 M 112 15 0 KIAA1267,LOC644246 NA07345,NA07348,NA10847,NA10859,NA10860,NA10863,NA11881,NA11993,NA12146,NA12234,NA12239,NA12812,NA12878,NA12891,NA12892 dgv3184n71 17 41532916 41723992 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908325,nsv908323,nsv908319 M 6533 5 0 KIAA1267,LOC644246 IS34742,IS36570,IS40677,MS18392,SP57324 dgv130e55 17 41543275 41719833 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751761,esv34389,esv34949,esv2751757,esv34609,esv34876,esv2751758,esv2751759,esv2751760,esv2751763,esv2751764 M 771 11 0 KIAA1267,LOC644246 BEC_425,BEC_522,BEC_625,BEC_666,BEC_692,BEC_792,NA06993,NA12752,NA12815,SPC_193,SPC_80 dgv978e1 17 41559185 41843177 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23854,essv22653,essv24140 M 271 0 0 ARL17B,KIAA1267,LOC644246,LRRC37A,NSFP1 NA07022,NA10847,NA12752 esv29962 17 41563921 41719833 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84201 S 2 0 1 KIAA1267,LOC644246 HuRef dgv131e55 17 41568981 41719833 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751762,esv2751765 M 771 0 2 KIAA1267,LOC644246 BEC_176,NA07029 nsv471492 17 41569001 41649000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547820 S 3 KIAA1267,LOC644246 dgv979e1 17 41569871 41590303 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21470,essv23724 M 271 0 0 KIAA1267 NA10830,NA12813 dgv980e1 17 41569871 41719833 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19801,essv19707,essv22792 M 271 0 0 KIAA1267,LOC644246 NA12236,NA12753,NA12864 nsv469697 17 41572523 41734030 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649629 M 265 5 18 Samples from several populations that are part of the HapMap project. ARL17B,KIAA1267,LOC644246,LRRC37A nsv833462 17 41590929 41719579 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453452,nssv1453451,nssv1453458,nssv1453456,nssv1453457,nssv1453453,nssv1453454,nssv1453455 M 95 8 0 KIAA1267,LOC644246 dgv981e1 17 41604625 41719833 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23742,essv19351,essv21484,essv22250,essv20722,essv24641,essv19313 M 271 0 0 KIAA1267,LOC644246 NA06985,NA10830,NA10846,NA11992,NA12752,NA12813,NA12872 dgv982e1 17 41604625 41760200 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21599,essv23160 M 271 0 0 ARL17B,KIAA1267,LOC644246,LRRC37A NA10831,NA12155 nsv908326 17 41648797 42005250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592725 S 6533 1 0 ARL17A,ARL17B,KIAA1267,LRRC37A,LRRC37A2,NSFP1 IS39243 nsv908327 17 41684998 41978948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559428 S 6533 0 1 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 MS23973 dgv3185n71 17 41705867 42155230 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908457,nsv908502,nsv908330,nsv908494,nsv908348,nsv908480,nsv908366,nsv908338,nsv908481,nsv908328,nsv908495,nsv908401,nsv908337,nsv908346,nsv908393,nsv908450,nsv908414 M 6533 49 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 IS33665,IS33702,IS34363,IS35205,IS36117,IS37639,IS38378,IS41166,MS10510,MS10790,MS11237,MS11497,MS12045,MS13212,MS13451,MS14495,MS14737,MS14818,MS15571,MS16039,MS16786,MS17849,MS18130,MS18993,MS20361,MS21071,MS22754,MS22798,MS23583,MS24103,MS24280,MS25369,MS25432,MS25814,SP52264,SP52297,SP52364,SP52694,SP53812,SP54665,SP55842,SP56903,SP57176,SP57347,SP57958,SP58090,SP58241,SP58325,SP58404 nsv908329 17 41710573 41854987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550702 S 6533 1 0 ARL17B,LRRC37A,NSFP1 MS18540 dgv13n31 17 41713832 41781181 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471502,nsv471497 M 3 ARL17B,LRRC37A nsv2070 17 41714303 41981453 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4272,nssv10976 M 9 0 2 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 NA12878,NA15510 nsv511057 17 41720555 41944000 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622420,nssv618627 M 4 0 0 ARL17B,LRRC37A,NSFP1 CHM,NA10860 dgv3186n71 17 41723992 42143493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908331,nsv908353,nsv908365 M 6533 0 3 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 IS41317,MS14296,MS22854 nsv163 17 41724262 41981453 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv163 S 1 0 1 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 NA15510 dgv3187n71 17 41730794 41943845 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908333,nsv908332,nsv908335 M 6533 4 0 ARL17B,LRRC37A,NSFP1 MS10695,MS13358,SP54802,SP57463 nsv821581 17 41736115 41941625 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419943 S 1 0 1 ARL17B,LRRC37A,NSFP1 NA10851 nsv908334 17 41741613 41922658 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519935,nssv1555791,nssv1523201,nssv1536881 M 6533 3 1 ARL17B,LRRC37A,NSFP1 MS12996,MS21558,SP50622,SP53759 dgv3188n71 17 41741613 42092850 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908490,nsv908364,nsv908413,nsv908432,nsv908434,nsv908336,nsv908456,nsv908362,nsv908479,nsv908391,nsv908363,nsv908389 M 6533 18 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 IS30406,IS31369,IS37817,IS41648,MS10166,MS13286,MS14305,MS15905,MS15940,MS19135,MS24503,MS24783,SP50936,SP50996,SP54275,SP54337,SP81097,SP81265 dgv983e1 17 41747597 41958405 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19417,essv5731,essv1961 M 271 0 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 NA11840,NA18593,NA18959 dgv984e1 17 41747597 42061631 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv31,essv14375,essv20588,essv2487,essv12640,essv18071,essv2293,essv22094,essv23221,essv12410,essv6751,essv14444,essv7023,essv11454,essv19081,essv7711,essv11849,essv18743,essv3694,essv17252 M 271 0 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 NA07029,NA07055,NA07056,NA12145,NA12154,NA12874,NA18500,NA18503,NA18507,NA18562,NA18612,NA18633,NA18857,NA18947,NA18966,NA18991,NA18999,NA19201,NA19221,NA19238 dgv985e1 17 41747597 42268630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv832,essv10553,essv698,essv7423,essv8847,essv1821,essv10426,essv1485,essv3040,essv7316,essv2540,essv2577,essv5098,essv9926,essv6822,essv24275,essv14883,essv4783,essv3874,essv3207,essv553,essv4602,essv22579,essv878,essv5917,essv24864,essv16144,essv3175,essv22138,essv5800,essv14554,essv7089,essv22976,essv1107,essv364,essv18217,essv5379,essv13158,essv2074,essv5253,essv15038,essv13666,essv13637,essv1239,essv5571,essv2664,essv9070,essv15581,essv18400,essv23462,essv16210,essv5147,essv24651,essv12183,essv17016,essv6889,essv22889,essv12815,essv24385,essv786,essv4699,essv11988,essv8283,essv15534,essv9716,essv4473,essv4236,essv23995,essv11726,essv14756,essv6288,essv4135,essv7755,essv20905,essv4976,essv6391,essv24517,essv9350,essv19213,essv11494,essv21046,essv5035,essv23015,essv13428,essv4649,essv4867,essv21216,essv12996,essv23871,essv9623,essv13541,essv14361,essv16659,essv5446,essv2791,essv15300,essv15286,essv17080,essv16777,essv10744,essv21548,essv10032,essv7304,essv12481,essv2326,essv1609,essv1445,essv22396,essv3393,essv6673,essv22848,essv22410,essv255,essv16512,essv20656,essv2900,essv3778,essv3554,essv18443,essv6305,essv11746,essv3084,essv3980,essv9200,essv10211,essv10292,essv442 M 271 0 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1,WNT3 NA06991,NA07000,NA07034,NA07348,NA07357,NA10838,NA10856,NA10857,NA10861,NA11829,NA11830,NA11831,NA12004,NA12057,NA12249,NA12707,NA12716,NA12760,NA12801,NA12802,NA12812,NA12814,NA12873,NA12875,NA12892,NA18504,NA18505,NA18506,NA18508,NA18517,NA18522,NA18523,NA18524,NA18529,NA18537,NA18542,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18579,NA18592,NA18594,NA18603,NA18605,NA18608,NA18609,NA18620,NA18622,NA18623,NA18624,NA18632,NA18636,NA18637,NA18853,NA18859,NA18862,NA18872,NA18913,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18967,NA18969,NA18970,NA18971,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA18987,NA18990,NA18994,NA18995,NA18998,NA19000,NA19003,NA19012,NA19094,NA19099,NA19100,NA19101,NA19102,NA19103,NA19119,NA19120,NA19127,NA19128,NA19129,NA19132,NA19137,NA19141,NA19142,NA19144,NA19145,NA19152,NA19154,NA19159,NA19160,NA19161,NA19172,NA19173,NA19192,NA19194,NA19202,NA19207,NA19210,NA19222,NA19240 nsv428343 17 41747597 42268630 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453474,nssv453462,nssv453466,nssv453472,nssv453468,nssv453458,nssv453459,nssv453454,nssv453455,nssv453471,nssv453473,nssv453469,nssv453467,nssv453461,nssv453456,nssv453477,nssv453457,nssv453470,nssv453460,nssv453475 M 62 16 4 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1,WNT3 HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00473,HGDP00476,HGDP00984,HGDP00986,HGDP01087,HGDP01089,HGDP01093,HGDP01094,NA18916,NA19096,NA19108,NA19113,NA19181,NA19225,NA19257 nsv442749 17 41756832 42107479 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 dgv3189n71 17 41763883 41854987 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908415,nsv908339 M 6533 0 2 ARL17B,LRRC37A,NSFP1 IS32664,MS12771 dgv3190n71 17 41763883 41922658 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908421,nsv908350,nsv908377,nsv908398,nsv908423,nsv908473,nsv908405,nsv908408,nsv908371,nsv908341,nsv908375,nsv908472,nsv908425,nsv908357,nsv908422,nsv908396,nsv908379,nsv908404,nsv908376,nsv908444,nsv908445,nsv908347 M 6533 395 684 ARL17B,LRRC37A,NSFP1 IS30070,IS30076,IS30179,IS30224,IS30284,IS30332,IS30350,IS30384,IS30388,IS30389,IS30477,IS30504,IS30814,IS30925,IS31074,IS31154,IS31194,IS31211,IS31372,IS31479,IS31576,IS31763,IS31799,IS32312,IS32703,IS32763,IS32806,IS32828,IS32894,IS32990,IS33162,IS33200,IS33345,IS33372,IS33403,IS33494,IS33721,IS33829,IS33863,IS33970,IS33975,IS34059,IS34262,IS34381,IS34405,IS34484,IS34510,IS34543,IS34599,IS34610,IS34684,IS34698,IS34745,IS34760,IS34770,IS34772,IS34791,IS34807,IS35014,IS35099,IS35138,IS35169,IS35176,IS35300,IS35403,IS35411,IS35431,IS35450,IS35505,IS35506,IS35536,IS35676,IS35765,IS35776,IS35877,IS35940,IS36064,IS36241,IS36245,IS36320,IS36492,IS36540,IS36657,IS36726,IS36798,IS36820,IS36911,IS37060,IS37088,IS37159,IS37291,IS37351,IS37435,IS37480,IS37689,IS38078,IS38093,IS38112,IS38114,IS38122,IS38138,IS38153,IS38199,IS38202,IS38220,IS38228,IS38235,IS38237,IS38240,IS38241,IS38267,IS38268,IS38280,IS38309,IS38330,IS38344,IS38367,IS38384,IS38421,IS38479,IS38495,IS38503,IS38505,IS38577,IS38589,IS38600,IS38602,IS38604,IS38610,IS38645,IS38652,IS38660,IS38669,IS38696,IS38743,IS38863,IS38962,IS39009,IS39046,IS39102,IS39181,IS39194,IS39233,IS39322,IS39333,IS39335,IS39336,IS39356,IS39393,IS39407,IS39428,IS39429,IS39522,IS39637,IS39721,IS39838,IS39992,IS40023,IS40033,IS40068,IS40105,IS40137,IS40145,IS40205,IS40222,IS40248,IS40319,IS40329,IS40333,IS40334,IS40342,IS40349,IS40473,IS40502,IS40558,IS40573,IS40577,IS40625,IS40643,IS40660,IS40728,IS40734,IS40752,IS40867,IS40907,IS40925,IS40930,IS40943,IS41008,IS41013,IS41066,IS41404,IS41483,IS41562,IS41647,IS41795,IS41801,IS41806,IS41837,IS41869,IS41875,IS41939,IS41956,IS41997,MS10074,MS10098,MS10102,MS10104,MS10115,MS10123,MS10141,MS10228,MS10278,MS10280,MS10324,MS10444,MS10461,MS10491,MS10499,MS10535,MS10566,MS10567,MS10575,MS10580,MS10591,MS10593,MS10615,MS10665,MS10674,MS10699,MS10709,MS10720,MS10721,MS10739,MS10778,MS10784,MS10816,MS10818,MS10821,MS10825,MS10848,MS10872,MS10897,MS10951,MS10959,MS10999,MS11021,MS11022,MS11031,MS11049,MS11080,MS11084,MS11137,MS11191,MS11241,MS11257,MS11307,MS11337,MS11364,MS11522,MS11558,MS11632,MS11641,MS11666,MS11693,MS11715,MS11738,MS11791,MS11981,MS11993,MS12005,MS12092,MS12109,MS12129,MS12149,MS12202,MS12211,MS12217,MS12281,MS12439,MS12482,MS12520,MS12539,MS12572,MS12597,MS12602,MS12638,MS12656,MS12667,MS12674,MS12684,MS12724,MS12727,MS12785,MS12823,MS12827,MS12837,MS12859,MS12863,MS12868,MS12913,MS12917,MS12986,MS12991,MS13002,MS13068,MS13118,MS13148,MS13162,MS13195,MS13219,MS13241,MS13252,MS13281,MS13294,MS13319,MS13351,MS13362,MS13383,MS13428,MS13436,MS13441,MS13538,MS13567,MS13703,MS13758,MS13771,MS13793,MS13808,MS14164,MS14250,MS14264,MS14284,MS14295,MS14323,MS14324,MS14334,MS14336,MS14388,MS14493,MS14513,MS14518,MS14526,MS14566,MS14601,MS14617,MS14634,MS14637,MS14652,MS14653,MS14676,MS14679,MS14719,MS14728,MS14786,MS14872,MS14897,MS14919,MS14923,MS14938,MS14942,MS14947,MS14978,MS14993,MS15014,MS15041,MS15083,MS15092,MS15198,MS15212,MS15220,MS15303,MS15337,MS15342,MS15359,MS15375,MS15480,MS15482,MS15511,MS15515,MS15525,MS15573,MS15600,MS15601,MS15610,MS15637,MS15682,MS15714,MS15737,MS15752,MS15768,MS15802,MS15803,MS15804,MS15834,MS15841,MS15859,MS15873,MS15885,MS15916,MS15921,MS15923,MS15925,MS15973,MS16008,MS16036,MS16042,MS16060,MS16078,MS16095,MS16124,MS16126,MS16137,MS16168,MS16192,MS16228,MS16252,MS16283,MS16314,MS16315,MS16323,MS16349,MS16352,MS16368,MS16373,MS16381,MS16396,MS16411,MS16416,MS16455,MS16459,MS16493,MS16506,MS16537,MS16555,MS16564,MS16588,MS16611,MS16621,MS16656,MS16699,MS16724,MS16822,MS16834,MS16846,MS16851,MS16859,MS16965,MS17017,MS17091,MS17106,MS17120,MS17126,MS17128,MS17156,MS17193,MS17204,MS17216,MS17221,MS17237,MS17244,MS17278,MS17319,MS17371,MS17373,MS17431,MS17502,MS17534,MS17563,MS17611,MS17624,MS17642,MS17691,MS17693,MS17703,MS17755,MS17802,MS17820,MS17842,MS17852,MS17872,MS17898,MS17911,MS17953,MS18003,MS18005,MS18028,MS18053,MS18101,MS18117,MS18211,MS18226,MS18273,MS18288,MS18307,MS18311,MS18368,MS18377,MS18413,MS18422,MS18431,MS18451,MS18453,MS18465,MS18484,MS18552,MS18553,MS18695,MS18752,MS18837,MS18848,MS18853,MS18876,MS18896,MS19003,MS19008,MS19062,MS19177,MS19276,MS19292,MS19340,MS19356,MS19358,MS19365,MS19372,MS19420,MS19533,MS19599,MS19634,MS19637,MS19645,MS19677,MS19703,MS19705,MS19798,MS19831,MS19842,MS19843,MS19922,MS19941,MS20009,MS20117,MS20196,MS20229,MS20247,MS20288,MS20334,MS20717,MS20771,MS20828,MS20857,MS20878,MS20919,MS20967,MS20996,MS21036,MS21130,MS21159,MS21188,MS21192,MS21225,MS21308,MS21343,MS21420,MS21442,MS21458,MS21470,MS21483,MS21506,MS21525,MS21677,MS21709,MS21730,MS21737,MS21820,MS21841,MS21857,MS21937,MS22008,MS22022,MS22093,MS22112,MS22177,MS22207,MS22251,MS22337,MS22411,MS22606,MS22707,MS22742,MS22764,MS22797,MS22809,MS22848,MS22894,MS22970,MS23008,MS23031,MS23105,MS23109,MS23110,MS23117,MS23120,MS23142,MS23174,MS23191,MS23376,MS23401,MS23456,MS23541,MS23550,MS23577,MS23628,MS23648,MS23669,MS23701,MS23713,MS23798,MS23805,MS23865,MS23875,MS23885,MS23958,MS23981,MS23997,MS24010,MS24032,MS24077,MS24121,MS24139,MS24162,MS24187,MS24193,MS24248,MS24265,MS24274,MS24285,MS24329,MS24330,MS24343,MS24357,MS24372,MS24423,MS24427,MS24444,MS24483,MS24553,MS24651,MS24670,MS24672,MS24678,MS24719,MS24749,MS24798,MS24808,MS24865,MS24867,MS24872,MS24877,MS24918,MS24919,MS24939,MS24970,MS24995,MS25025,MS25039,MS25042,MS25087,MS25139,MS25177,MS25184,MS25216,MS25254,MS25294,MS25308,MS25357,MS25406,MS25451,MS25498,MS25509,MS25519,MS25627,MS25674,MS25725,MS25730,MS25751,MS25755,MS25789,MS25805,MS25831,MS25842,MS25854,MS25868,MS25870,MS25939,MS25940,MS25966,MS26050,MS26073,MS26110,MS26118,MS26120,MS26137,SP50027,SP50029,SP50032,SP50038,SP50046,SP50059,SP50082,SP50087,SP50120,SP50129,SP50153,SP50156,SP50178,SP50179,SP50519,SP50521,SP50523,SP50555,SP50562,SP50569,SP50573,SP50593,SP50608,SP50637,SP50653,SP50665,SP50691,SP50709,SP50721,SP50742,SP50755,SP50766,SP50774,SP50802,SP50809,SP50823,SP50830,SP50831,SP50855,SP50915,SP50940,SP50977,SP50984,SP50989,SP51021,SP51031,SP51043,SP51065,SP51069,SP51084,SP51104,SP51109,SP51115,SP51118,SP51123,SP51142,SP51147,SP51175,SP51179,SP51192,SP51200,SP51234,SP51235,SP51241,SP51259,SP51267,SP51328,SP51379,SP51389,SP51402,SP51411,SP51422,SP51439,SP52052,SP52109,SP52131,SP52137,SP52175,SP52195,SP52234,SP52243,SP52253,SP52255,SP52299,SP52349,SP52351,SP52376,SP52386,SP52431,SP52439,SP52455,SP52458,SP52493,SP52523,SP52531,SP52559,SP52569,SP52625,SP52651,SP52677,SP52689,SP52692,SP52704,SP52716,SP52721,SP52728,SP52734,SP52759,SP52772,SP52782,SP52787,SP52893,SP52904,SP52913,SP52955,SP53036,SP53044,SP53144,SP53154,SP53252,SP53259,SP53262,SP53280,SP53320,SP53324,SP53330,SP53349,SP53368,SP53412,SP53447,SP53449,SP53474,SP53508,SP53518,SP53531,SP53563,SP53583,SP53709,SP53964,SP53987,SP53998,SP54002,SP54007,SP54023,SP54026,SP54058,SP54108,SP54134,SP54138,SP54148,SP54166,SP54216,SP54268,SP54284,SP54312,SP54350,SP54362,SP54373,SP54384,SP54407,SP54429,SP54468,SP54516,SP54532,SP54551,SP54575,SP54580,SP54591,SP54607,SP54627,SP54636,SP54645,SP54650,SP54666,SP54673,SP54680,SP54734,SP54760,SP54769,SP54790,SP54816,SP54853,SP54884,SP54891,SP54942,SP54952,SP54958,SP54975,SP54979,SP54983,SP54994,SP55005,SP55007,SP55013,SP55019,SP55021,SP55024,SP55039,SP55064,SP55075,SP55084,SP55102,SP55126,SP55131,SP55138,SP55264,SP55267,SP55290,SP55310,SP55355,SP55381,SP55401,SP55424,SP55460,SP55493,SP55500,SP55526,SP55539,SP55542,SP55553,SP55558,SP55597,SP55663,SP55698,SP55748,SP55797,SP55803,SP55807,SP55864,SP55868,SP55914,SP55915,SP55937,SP55947,SP55966,SP55970,SP55971,SP55986,SP55992,SP55996,SP56005,SP56022,SP56094,SP56106,SP56107,SP56116,SP56136,SP56144,SP56197,SP56207,SP56213,SP56215,SP56234,SP56301,SP56342,SP56380,SP56390,SP56426,SP56448,SP56458,SP56505,SP56518,SP56533,SP56631,SP56633,SP56689,SP56701,SP56708,SP56769,SP56780,SP56794,SP56807,SP56811,SP56816,SP56828,SP56830,SP56863,SP56922,SP56937,SP56950,SP56960,SP56971,SP56993,SP57005,SP57022,SP57037,SP57042,SP57049,SP57058,SP57061,SP57062,SP57070,SP57105,SP57148,SP57160,SP57173,SP57254,SP57268,SP57278,SP57306,SP57322,SP57324,SP57328,SP57368,SP57445,SP57481,SP57489,SP57545,SP57575,SP57589,SP57599,SP57681,SP57690,SP57736,SP57771,SP57779,SP57860,SP57865,SP57891,SP57921,SP57925,SP57941,SP57950,SP57951,SP58053,SP58114,SP58168,SP58209,SP58259,SP58299,SP58310,SP58343,SP58378,SP58433,SP58506,SP58558,SP80924,SP80928,SP80930,SP80969,SP80977,SP81006,SP81030,SP81040,SP81060,SP81105,SP81107,SP81168,SP81172,SP81181,SP81187,SP81189,SP81194,SP81197,SP81203,SP81213,SP81228,SP81238,SP81255,SP81266,SP81275,SP81276,SP81324,SP81333,SP81352,SP81359,SP81383,SP81385,SP81431,SP81437,SP81438,SP81448,SP81459,SP81471,SP81512,SP81560 dgv3191n71 17 41763883 41922658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908437,nsv908442,nsv908441,nsv908340,nsv908378,nsv908453,nsv908397,nsv908354 M 6533 0 15 ARL17B,LRRC37A,NSFP1 IS38057,MS12157,MS12387,MS12398,MS12640,MS12688,MS13028,MS15102,MS16591,MS16801,MS20355,MS23071,MS23178,MS23889,SP53719 dgv3192n71 17 41763883 41961716 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908399,nsv908358,nsv908477,nsv908426,nsv908361,nsv908474,nsv908409,nsv908383,nsv908343,nsv908380,nsv908385,nsv908386,nsv908446 M 6533 251 155 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 IS30051,IS30082,IS30139,IS30148,IS30270,IS30300,IS30493,IS30953,IS31326,IS31371,IS32817,IS32843,IS32893,IS33023,IS33218,IS33475,IS33676,IS33712,IS33749,IS33871,IS34397,IS34523,IS34804,IS35222,IS35261,IS35297,IS35358,IS35388,IS35440,IS35487,IS35510,IS35561,IS35568,IS35949,IS36463,IS36735,IS36789,IS37194,IS37247,IS37456,IS37704,IS37775,IS37861,IS37866,IS37946,IS37986,IS38011,IS38037,IS38058,IS38128,IS38141,IS38225,IS38349,IS38399,IS38400,IS38474,IS38575,IS38593,IS38754,IS38810,IS38818,IS39022,IS39125,IS39272,IS39320,IS39373,IS39391,IS39400,IS39493,IS39627,IS39660,IS39860,IS39900,IS40027,IS40326,IS40429,IS40581,IS40616,IS40618,IS40676,IS40785,IS40799,IS40940,IS41424,IS41866,IS41949,MS10094,MS10109,MS10120,MS10177,MS10362,MS10375,MS10378,MS10443,MS10515,MS10611,MS10733,MS10756,MS10896,MS10922,MS10937,MS10991,MS11057,MS11097,MS11194,MS11199,MS11823,MS12138,MS12234,MS12261,MS12331,MS12353,MS12365,MS12423,MS12634,MS12657,MS12685,MS12719,MS12734,MS12751,MS12758,MS12983,MS13058,MS13143,MS13254,MS13360,MS13423,MS13469,MS13605,MS14101,MS14111,MS14210,MS14266,MS14287,MS14502,MS14549,MS14639,MS14658,MS14681,MS14708,MS14801,MS14805,MS14824,MS14848,MS14849,MS14905,MS14918,MS14939,MS14971,MS15030,MS15036,MS15065,MS15078,MS15277,MS15291,MS15364,MS15428,MS15487,MS15508,MS15528,MS15596,MS15642,MS15727,MS15771,MS15780,MS15813,MS15826,MS15835,MS15877,MS16117,MS16176,MS16188,MS16209,MS16337,MS16347,MS16357,MS16399,MS16447,MS16471,MS16704,MS16707,MS16722,MS16774,MS16824,MS16835,MS16837,MS16852,MS16863,MS16902,MS16949,MS17043,MS17255,MS17275,MS17359,MS17363,MS17375,MS17447,MS17449,MS17492,MS17508,MS17599,MS17637,MS17696,MS17723,MS17751,MS17779,MS17794,MS17902,MS17973,MS18182,MS18248,MS18261,MS18376,MS18387,MS18503,MS18599,MS18652,MS18677,MS18789,MS18829,MS19119,MS19140,MS19226,MS19267,MS19277,MS19438,MS19517,MS19571,MS19587,MS19638,MS19698,MS19700,MS19746,MS20030,MS20039,MS20146,MS20204,MS20236,MS20503,MS20543,MS20588,MS20630,MS20670,MS20747,MS20885,MS21020,MS21136,MS21218,MS21402,MS21649,MS21706,MS21722,MS21776,MS21780,MS21840,MS21863,MS21866,MS21868,MS22103,MS22279,MS22351,MS22421,MS22453,MS22584,MS23143,MS23165,MS23184,MS23194,MS23332,MS23451,MS23542,MS23609,MS23685,MS23811,MS23949,MS23984,MS24003,MS24098,MS24141,MS24151,MS24173,MS24210,MS24219,MS24225,MS24266,MS24373,MS24381,MS24393,MS24450,MS24692,MS24704,MS24729,MS24733,MS24769,MS24854,MS24897,MS24935,MS24940,MS24971,MS25099,MS25121,MS25193,MS25259,MS25280,MS25330,MS25377,MS25382,MS25484,MS25580,MS25588,MS25625,MS25633,MS25792,MS25833,MS25884,MS25887,MS25889,MS25891,MS25980,MS26030,SP50177,SP50623,SP50660,SP50683,SP50685,SP50708,SP50843,SP51079,SP51102,SP51105,SP51165,SP51359,SP51403,SP52224,SP52350,SP52419,SP52464,SP52571,SP52579,SP52648,SP52800,SP52816,SP52881,SP53068,SP53260,SP53303,SP53401,SP53596,SP53937,SP53997,SP53999,SP54048,SP54117,SP54220,SP54227,SP54812,SP54950,SP55092,SP55093,SP55108,SP55209,SP55405,SP55456,SP55508,SP56367,SP56542,SP56543,SP56574,SP56582,SP56653,SP56805,SP56870,SP56875,SP56995,SP57188,SP57593,SP57875,SP58077,SP58141,SP58180,SP58377,SP58505,SP80968,SP81033,SP81046,SP81120,SP81127,SP81132,SP81202,SP81242,SP81264,SP81347,SP81349,SP81355,SP81364,SP81397,SP81417,SP81432,SP81454,SP81461,SP81485,SP81498,SP81503,SP81533,SP81578,SP81582 dgv3193n71 17 41763883 41962049 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908476,nsv908455,nsv908360,nsv908427,nsv908410,nsv908342,nsv908475,nsv908430,nsv908412,nsv908428,nsv908381,nsv908447 M 6533 27 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 IS34549,IS37992,IS38524,MS11135,MS12191,MS13521,MS15509,MS16740,MS18747,MS24969,MS24997,MS25269,SP50528,SP51196,SP51494,SP52303,SP53041,SP54622,SP54735,SP54761,SP54789,SP55729,SP55804,SP55822,SP56246,SP57193,SP81326 dgv3194n71 17 41763883 41978948 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908388,nsv908352,nsv908454,nsv908429,nsv908411,nsv908448,nsv908382,nsv908359,nsv908351,nsv908384,nsv908400,nsv908449,nsv908387,nsv908344 M 6533 0 15 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSFP1 MS10352,MS11243,MS12432,MS13230,MS14683,MS16708,MS17527,MS17678,MS18116,MS18819,MS19093,MS22756,SP50856,SP53287,SP57078 dgv3195n71 17 41763883 42143493 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908435,nsv908392,nsv908390,nsv908491,nsv908345 M 6533 44 7 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 IS33726,IS35180,IS35509,IS36411,IS36517,IS38069,MS10119,MS10400,MS10777,MS12642,MS12721,MS12856,MS13232,MS13511,MS15286,MS16011,MS16158,MS16477,MS16808,MS17900,MS19301,MS19437,MS19852,MS21314,MS21721,MS22089,MS22580,MS23098,MS23258,MS23486,MS24202,MS24245,MS24439,MS24951,MS25028,MS25305,MS25690,MS25864,MS25901,MS25943,MS26001,SP52858,SP53415,SP54139,SP54430,SP54916,SP55165,SP55649,SP55763,SP56818,SP80938 dgv3196n71 17 41768708 41854987 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908349,nsv908367,nsv908436,nsv908368 M 6533 5 0 ARL17B,LRRC37A,NSFP1 IS36689,MS25888,SP57485,SP57945,SP80932 esv1003686 17 41770843 42140941 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586654 S 3 1 0 ARL17A,ARL17B,LRRC37A,LRRC37A2,NSF,NSFP1 HuRef dgv3197n71 17 41771015 41914286 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908443,nsv908424,nsv908355,nsv908394,nsv908451,nsv908420,nsv908407,nsv908452,nsv908438,nsv908439,nsv908440,nsv908374,nsv908406,nsv908373,nsv908402,nsv908418,nsv908403,nsv908395,nsv908372,nsv908419,nsv908356 M 6533 26 0 ARL17B,NSFP1 IS30039,IS30218,IS30412,IS33148,IS34756,IS35533,IS36785,MS10249,MS12154,MS13444,MS15767,MS16286,MS17385,MS17878,MS20550,MS24909,MS25603,SP51419,SP52872,SP54543,SP54556,SP54937,SP55423,SP55573,SP55684,SP57113 dgv3198n71 17 41775690 41874558 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908416,nsv908369,nsv908370 M 6533 3 0 ARL17B,NSFP1 MS16206,SP51014,SP51413 esv2421412 17 41781186 41914286 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132074,essv5158970,essv5029420,essv5125889,essv5036626,essv5014487,essv5153692,essv5118548,essv5085341,essv5086037,essv5153832,essv5088551,essv5017548,essv5150922,essv5073367,essv5120325,essv5045143,essv5043704,essv5107199,essv5114098,essv5012520,essv5052951,essv5125779,essv5152871,essv5121857,essv5031541,essv5039726,essv5068189,essv5041679,essv5103801,essv5148917,essv5073842,essv5155032,essv5002120,essv5047200,essv5130108,essv5023390,essv5069286,essv5121162,essv5137082,essv5017431,essv5159673,essv5025660,essv5016796,essv5042080,essv5126419,essv5111514,essv5139537,essv5048426,essv5053065,essv5133163,essv5098535,essv5076678,essv5091798,essv5079130,essv5104180,essv5080163,essv5071140,essv5111287,essv5031862,essv5046350,essv5122119,essv5046259,essv5034157,essv5040810,essv5046998,essv5063025,essv5134020,essv5078201,essv5149582,essv5092546,essv5141580,essv5118785,essv5042341,essv5133953,essv5019630,essv5012129,essv5076762,essv5109002,essv5007497,essv5029608,essv5082580,essv5035930,essv5050981,essv5109584,essv5046378,essv5041877,essv5041841,essv5028733,essv5060652,essv5156730,essv5094775,essv5136420,essv5049605,essv5071455,essv5076944,essv5057884,essv5012397,essv5133879,essv5035688,essv5138920,essv5149904,essv5042793,essv5048600,essv5034928,essv5118515,essv5121235,essv5141599,essv5034293,essv5026958,essv5051047,essv5059534,essv5115788,essv5006376,essv5109414,essv5005257,essv5106705,essv5071932,essv5070134,essv5050316,essv5157773,essv5040255,essv5130703,essv5020576,essv5108877,essv5088198,essv5029537,essv5156286,essv5154933,essv5111688,essv5031239,essv5031238,essv5093958,essv5064789,essv5013022,essv5149925,essv5105874,essv5109383,essv5014894,essv5145011,essv5113856,essv5131055,essv5087312,essv5124200,essv5109246,essv5056889,essv5029946,essv5062471,essv5005113,essv5022142,essv5013283,essv5075432,essv5134830,essv5111229,essv5038440,essv5064490,essv5135087,essv5035841,essv5111141,essv5105335,essv5114593,essv5135125,essv5014349,essv5155808,essv5155801,essv5087373,essv5008256,essv5031584,essv5129326,essv5020670,essv5004728,essv5125100,essv5087972,essv5005713,essv5049716,essv5017384,essv5082300,essv5043751,essv5144810,essv5049909,essv5072377,essv5028678,essv5044714,essv5028684,essv5152977,essv5013082,essv5088824,essv5091230,essv5037792,essv5077786,essv5139661,essv5090242,essv5150253,essv5112191,essv5008164,essv5129471,essv5104502,essv5099238,essv5159125,essv5020294,essv5063020,essv5079915,essv5107864,essv5094109,essv5130936,essv5128192,essv5028372,essv5102688,essv5029002,essv5061967,essv5026899,essv5158413,essv5123480,essv5149066,essv5008586,essv5159370,essv5154029,essv5091837,essv5075674,essv5075037,essv5101778,essv5010870,essv5015875,essv5069943,essv5116173,essv5029061,essv5072435,essv5120836,essv5136372,essv5007649,essv5027677,essv5097829,essv5099712,essv5027908,essv5105950,essv5108969,essv5005527,essv5006821,essv5091226,essv5027134,essv5074559,essv5015645,essv5043017,essv5125857,essv5153107,essv5038067,essv5077258,essv5009659,essv5038310,essv5101916,essv5052889,essv5056006,essv5010893,essv5043879,essv5009872,essv5041326,essv5078604,essv5125519,essv5004250,essv5158728,essv5095355,essv5015364,essv5072027,essv5108509,essv5098951,essv5069770,essv5054889,essv5015609,essv5050778,essv5080994,essv5072919,essv5124149,essv5099405,essv5016737,essv5020564,essv5135380,essv5095046,essv5154331,essv5099707,essv5117820,essv5108891,essv5147770,essv5100939,essv5137393,essv5024915,essv5002107,essv5129526,essv5005051,essv5093519,essv5096704,essv5041496,essv5025723,essv5071976,essv5097056,essv5075740,essv5068654,essv5110056,essv5104237,essv5112840,essv5131353,essv5109212,essv5155684,essv5118204,essv5106643,essv5154676,essv5119946,essv5146372,essv5020053,essv5152981,essv5009745,essv5055305,essv5136843,essv5079842,essv5139001,essv5041456,essv5069176,essv5074989,essv5094921,essv5136055,essv5147732,essv5079858,essv5131858,essv5062036,essv5034369,essv5030615,essv5056905,essv5123557,essv5022319,essv5140625,essv5103200,essv5037176,essv5033443,essv5052308,essv5160938,essv5086864,essv5145972,essv5076511,essv5098307,essv5087685,essv5098215,essv5012859,essv5129410,essv5006331,essv5010031,essv5050414,essv5009018,essv5020662,essv5033817,essv5099779,essv5062551,essv5138957,essv5103860,essv5036725,essv5061769,essv5134125,essv5063595,essv5143582,essv5159200,essv5121993,essv5077005,essv5009565,essv5023425,essv5119263,essv5070822,essv5022081,essv5031547,essv5026231,essv5117682,essv5057625,essv5106273,essv5140063,essv5078232,essv5074443,essv5024526,essv5160373,essv5130048,essv5025645,essv5070107,essv5126765,essv5061445,essv5121623,essv5135371,essv5068310,essv5017089,essv5123310,essv5145730,essv5051785,essv5137747,essv5150862,essv5049460,essv5152214,essv5124717,essv5154649,essv5032854,essv5089664,essv5153346,essv5143240,essv5050360,essv5131847,essv5090892,essv5140345,essv5073474,essv5099378,essv5007251,essv5048440,essv5154120,essv5155826,essv5147866,essv5076118,essv5041845,essv5109204,essv5139643,essv5101214,essv5143872,essv5039607,essv5013675,essv5107329,essv5108607,essv5024645,essv5082483,essv5073371,essv5130530,essv5017267,essv5014166,essv5042822,essv5145195,essv5120287,essv5049533,essv5154059,essv5018897,essv5066520,essv5064876,essv5110971,essv5122282,essv5150338,essv5024093,essv5076140,essv5054411,essv5057829,essv5063065,essv5026514,essv5148637,essv5026388,essv5097528,essv5089887,essv5132480,essv5022772,essv5049047,essv5009539,essv5010155,essv5154227,essv5131874,essv5044471,essv5080661,essv5144629,essv5125196,essv5042544,essv5045861,essv5156006,essv5127306,essv5131007,essv5046133,essv5002146,essv5023007,essv5073278,essv5053758,essv5015756,essv5134897,essv5071582,essv5014230,essv5094277,essv5030034,essv5011548,essv5014514,essv5028065,essv5129967,essv5050574,essv5027308,essv5067232,essv5048609,essv5017312,essv5082446,essv5084163,essv5029583,essv5055741,essv5145741,essv5031265,essv5035393,essv5051569,essv5031868,essv5141887,essv5016164,essv5085073,essv5013309,essv5139952,essv5151760,essv5127544,essv5096128,essv5012390,essv5058772,essv5135101,essv5052058,essv5145701,essv5053283,essv5030377,essv5031567,essv5075472,essv5056330,essv5015310,essv5072265,essv5129692,essv5089417,essv5149009,essv5103128,essv5113824,essv5150649,essv5109946,essv5121898,essv5056467,essv5012655,essv5150356,essv5026340,essv5118430,essv5143135,essv5029986,essv5143552,essv5040504,essv5127679,essv5118141,essv5092411,essv5009253,essv5116189,essv5021356,essv5132841,essv5117273,essv5053891,essv5126610,essv5020128,essv5109924,essv5110870,essv5089165,essv5025901,essv5111492,essv5038158,essv5107044,essv5041963,essv5151658,essv5037647,essv5064276,essv5016214,essv5112493,essv5081590,essv5068484,essv5024288,essv5087887,essv5148780,essv5156419,essv5115102,essv5052935,essv5024107,essv5004037,essv5150431,essv5036469,essv5069428,essv5094159,essv5070631,essv5105414,essv5068492,essv5107826,essv5067465,essv5057804,essv5020753,essv5100176,essv5127275,essv5072688,essv5026736,essv5102071,essv5130712,essv5140012,essv5111086,essv5061081,essv5038659,essv5029604,essv5015774,essv5004421,essv5034016,essv5158093,essv5049450,essv5068435,essv5006623,essv5082274,essv5073795,essv5021466,essv5039541,essv5114931,essv5024244,essv5025052,essv5140624,essv5095769,essv5145250,essv5072412,essv5002220,essv5160908,essv5102251,essv5031598,essv5029724,essv5150831,essv5155445,essv5123636,essv5070514,essv5005454,essv5010176,essv5123807,essv5084100,essv5086842,essv5143341,essv5064621,essv5067146,essv5079952,essv5102216,essv5067248,essv5151361,essv5082107,essv5027160,essv5145190,essv5140792,essv5092913,essv5050180,essv5046869,essv5071714,essv5106972,essv5063771,essv5157852,essv5018957,essv5075665,essv5097163,essv5035124,essv5031979,essv5051702,essv5048669,essv5084040,essv5078172,essv5152712,essv5105359,essv5089118,essv5157257,essv5089706,essv5024476,essv5126160,essv5064497,essv5085808,essv5106557,essv5142293,essv5061259,essv5127224,essv5082377,essv5063914,essv5118553,essv5016532,essv5076039,essv5048194,essv5045262,essv5034165,essv5003614,essv5157815,essv5014797,essv5144258,essv5087776,essv5015146,essv5141959,essv5127766,essv5008815,essv5154586,essv5015454,essv5114885,essv5112024,essv5098424,essv5052731,essv5024052,essv5100210,essv5152273,essv5007600,essv5030231,essv5073158,essv5005989,essv5006416,essv5045882,essv5150045,essv5087739,essv5147223,essv5079691,essv5064981,essv5068975,essv5134853,essv5044222,essv5075795,essv5010258,essv5145662,essv5054346,essv5011039,essv5079823,essv5117448 M 1184 443 259 ARL17B,NSFP1 NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07037,NA07051,NA07055,NA07056,NA07345,NA07348,NA07349,NA07435,NA10831,NA10835,NA10836,NA10838,NA10839,NA10843,NA10852,NA10853,NA10854,NA10855,NA10856,NA10861,NA10864,NA10865,NA11829,NA11830,NA11839,NA11840,NA11891,NA11892,NA11894,NA11918,NA11919,NA11930,NA11993,NA12006,NA12043,NA12044,NA12057,NA12145,NA12154,NA12239,NA12248,NA12249,NA12272,NA12273,NA12275,NA12282,NA12335,NA12336,NA12341,NA12342,NA12375,NA12386,NA12399,NA12400,NA12413,NA12546,NA12707,NA12716,NA12739,NA12749,NA12751,NA12753,NA12760,NA12763,NA12766,NA12767,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12814,NA12815,NA12818,NA12827,NA12830,NA12832,NA12843,NA12865,NA12873,NA12874,NA12875,NA12878,NA12891,NA12892,NA17962,NA17966,NA17967,NA17968,NA17969,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17982,NA17983,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA18101,NA18102,NA18106,NA18108,NA18112,NA18114,NA18117,NA18118,NA18120,NA18124,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18141,NA18143,NA18144,NA18147,NA18148,NA18149,NA18152,NA18154,NA18157,NA18159,NA18160,NA18161,NA18166,NA18484,NA18485,NA18487,NA18488,NA18489,NA18500,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18517,NA18518,NA18520,NA18524,NA18534,NA18536,NA18542,NA18543,NA18544,NA18545,NA18546,NA18550,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18603,NA18605,NA18608,NA18612,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18740,NA18745,NA18748,NA18749,NA18757,NA18857,NA18858,NA18862,NA18867,NA18868,NA18872,NA18873,NA18909,NA18910,NA18911,NA18913,NA18916,NA18923,NA18924,NA18933,NA18934,NA18935,NA18940,NA18942,NA18943,NA18945,NA18946,NA18947,NA18948,NA18949,NA18953,NA18955,NA18956,NA18957,NA18959,NA18961,NA18962,NA18963,NA18964,NA18966,NA18968,NA18971,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18987,NA18991,NA18994,NA18995,NA18998,NA18999,NA19000,NA19001,NA19002,NA19009,NA19010,NA19036,NA19038,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19076,NA19078,NA19079,NA19080,NA19083,NA19085,NA19087,NA19094,NA19096,NA19101,NA19102,NA19103,NA19107,NA19108,NA19113,NA19114,NA19119,NA19120,NA19122,NA19123,NA19127,NA19128,NA19129,NA19137,NA19141,NA19142,NA19144,NA19149,NA19150,NA19151,NA19152,NA19154,NA19159,NA19160,NA19172,NA19176,NA19178,NA19181,NA19184,NA19186,NA19190,NA19192,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19207,NA19210,NA19213,NA19214,NA19215,NA19221,NA19222,NA19225,NA19226,NA19236,NA19237,NA19238,NA19240,NA19247,NA19257,NA19258,NA19307,NA19308,NA19310,NA19314,NA19315,NA19317,NA19321,NA19324,NA19334,NA19346,NA19347,NA19359,NA19360,NA19372,NA19375,NA19376,NA19379,NA19380,NA19382,NA19384,NA19390,NA19391,NA19394,NA19404,NA19428,NA19429,NA19430,NA19431,NA19437,NA19438,NA19440,NA19443,NA19444,NA19446,NA19449,NA19452,NA19457,NA19462,NA19466,NA19467,NA19469,NA19473,NA19474,NA19625,NA19649,NA19650,NA19654,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19670,NA19671,NA19676,NA19677,NA19679,NA19680,NA19681,NA19683,NA19685,NA19700,NA19703,NA19704,NA19708,NA19711,NA19712,NA19713,NA19714,NA19718,NA19719,NA19720,NA19721,NA19724,NA19725,NA19726,NA19746,NA19749,NA19750,NA19751,NA19755,NA19759,NA19760,NA19761,NA19762,NA19771,NA19773,NA19776,NA19778,NA19782,NA19783,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19819,NA19828,NA19834,NA19835,NA19900,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19921,NA19982,NA19983,NA19985,NA20126,NA20128,NA20129,NA20276,NA20277,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20292,NA20294,NA20295,NA20297,NA20300,NA20302,NA20334,NA20341,NA20356,NA20357,NA20359,NA20502,NA20504,NA20505,NA20508,NA20509,NA20510,NA20515,NA20522,NA20524,NA20525,NA20527,NA20529,NA20531,NA20534,NA20538,NA20540,NA20542,NA20543,NA20544,NA20582,NA20588,NA20589,NA20752,NA20754,NA20755,NA20758,NA20761,NA20766,NA20768,NA20769,NA20770,NA20772,NA20773,NA20774,NA20778,NA20783,NA20787,NA20790,NA20792,NA20797,NA20801,NA20804,NA20805,NA20806,NA20809,NA20810,NA20811,NA20813,NA20815,NA20826,NA20828,NA20845,NA20846,NA20849,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20872,NA20873,NA20874,NA20879,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20899,NA20901,NA20902,NA20903,NA20906,NA20907,NA20908,NA20909,NA21086,NA21088,NA21090,NA21098,NA21100,NA21101,NA21105,NA21106,NA21108,NA21109,NA21113,NA21123,NA21137,NA21142,NA21295,NA21297,NA21300,NA21307,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21320,NA21333,NA21339,NA21344,NA21353,NA21356,NA21357,NA21359,NA21360,NA21362,NA21363,NA21365,NA21367,NA21368,NA21370,NA21379,NA21381,NA21386,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21415,NA21423,NA21439,NA21440,NA21441,NA21447,NA21454,NA21457,NA21473,NA21475,NA21476,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21519,NA21520,NA21522,NA21523,NA21524,NA21525,NA21528,NA21573,NA21576,NA21577,NA21587,NA21599,NA21600,NA21614,NA21616,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21650,NA21678,NA21682,NA21686,NA21718,NA21722,NA21733,NA21738,NA21740,NA21741,NA21768,NA21776,NA21826 dgv15n14 17 41781186 41935452 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433307,nsv433308,nsv433306 M 9 0 3 ARL17B,NSFP1 NA12878,NA18507,NA18517 nsv819319 17 41781845 41922658 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418880 S 2 0 1 ARL17B,NSFP1 AK1 dgv3199n71 17 41785962 41907421 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908470,nsv908463,nsv908485,nsv908469,nsv908467,nsv908417 M 6533 15 20 ARL17B,NSFP1 IS30297,IS32661,IS33788,IS33800,IS38239,MS11971,MS12938,MS13211,MS15191,MS16271,MS17689,MS19582,MS21390,MS22616,MS24172,MS24968,SP50176,SP51140,SP51296,SP52160,SP52925,SP54294,SP54406,SP54672,SP54885,SP54913,SP55100,SP55345,SP55984,SP56023,SP56783,SP57410,SP57610,SP57717,SP81440 dgv3200n71 17 41785962 42012289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908431,nsv908489,nsv908478 M 6533 0 3 ARL17A,ARL17B,LRRC37A2,NSFP1 IS36728,MS17537,MS23079 dgv3201n71 17 41785962 42092850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908433,nsv908501 M 6533 0 3 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 MS10843,MS12895,MS18185 nsv908458 17 41801275 41850719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576121 S 6533 0 1 NSFP1 IS33878 nsv908460 17 41801275 41860207 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550179 S 6533 1 0 NSFP1 MS18333 dgv3202n71 17 41801275 41871366 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908459,nsv908461 M 6533 2 2 NSFP1 IS30222,IS38006,MS14085,MS16793 dgv3203n71 17 41801275 41910838 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908465,nsv908468,nsv908466,nsv908471,nsv908462,nsv908483,nsv908464,nsv908484 M 6533 11 0 NSFP1 IS30085,IS38056,IS39205,MS10193,MS12606,MS14304,MS22499,MS22639,MS25526,SP50631,SP51030 nsv908482 17 41814370 41881075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514056 S 6533 1 0 NSFP1 SP55911 dgv3204n71 17 41814370 41922658 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908486,nsv908498,nsv908492 M 6533 19 34 NSFP1 IS30133,IS30160,IS30165,IS30235,IS30766,IS32150,IS33115,IS34185,IS36141,IS36383,IS37415,IS37422,IS37752,IS38050,IS40544,IS40990,IS41433,MS10820,MS11333,MS11537,MS11836,MS12644,MS12743,MS14105,MS14433,MS15216,MS17310,MS17825,MS18153,MS18799,MS18970,MS21118,MS22601,MS22971,MS23789,MS23983,MS24223,MS24487,MS24792,MS25244,MS25275,MS25521,SP50091,SP50561,SP51376,SP51398,SP52055,SP55041,SP56387,SP56726,SP57689,SP58161,SP81361 nsv908487 17 41814370 41943845 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600343,nssv1560415,nssv1538850,nssv1544879,nssv1545434 M 6533 4 1 NSFP1 IS41870,MS13783,MS16559,MS16792,MS24476 dgv3205n71 17 41814370 41978948 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908488,nsv908500 M 6533 0 3 ARL17A,LRRC37A2,NSFP1 MS14330,MS18956,MS21992 dgv3206n71 17 41824840 41943845 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908493,nsv908514,nsv908516,nsv908504,nsv908499,nsv908520 M 6533 7 0 NSFP1 IS30899,IS40744,MS16821,MS17036,MS18290,MS24833,SP81408 dgv3207n71 17 41832645 41907421 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908496,nsv908497 M 6533 2 3 NSFP1 IS34346,IS39254,MS20616,MS23086,SP50828 nsv833463 17 41834276 42009713 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453506,nssv1453470,nssv1453466,nssv1453471,nssv1453478,nssv1453472,nssv1453484,nssv1453459,nssv1453473,nssv1453477,nssv1453503,nssv1453505,nssv1453475,nssv1453474,nssv1453501,nssv1453497,nssv1453502,nssv1453504,nssv1453481,nssv1453461,nssv1453460,nssv1453483,nssv1453480,nssv1453479,nssv1453482,nssv1453486,nssv1453469,nssv1453495,nssv1453467,nssv1453463,nssv1453487,nssv1453485,nssv1453496,nssv1453465,nssv1453500,nssv1453462,nssv1453498,nssv1453499,nssv1453464,nssv1453476,nssv1453489,nssv1453494,nssv1453493,nssv1453488,nssv1453490,nssv1453468,nssv1453492,nssv1453491 M 95 0 48 ARL17A,ARL17B,LRRC37A2,NSFP1 dgv3208n71 17 41841267 41922658 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908518,nsv908506,nsv908522,nsv908512,nsv908519,nsv908510,nsv908503,nsv908507,nsv908505 M 6533 12 0 NSFP1 IS34386,IS36893,IS38191,IS38277,IS39515,MS11556,MS15686,MS21522,SP50035,SP50904,SP52574,SP53493 dgv3209n71 17 41844551 41943845 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908508,nsv908528 M 6533 3 2 NSFP1 IS41971,MS11020,MS12265,MS19923,MS21201 dgv3210n71 17 41845935 41907421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908521,nsv908517,nsv908509 M 6533 0 5 NSFP1 IS30993,IS38219,IS40818,MS22677,SP54798 dgv3211n71 17 41845935 41949447 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908511,nsv908515,nsv908524 M 6533 0 4 ARL17A,LRRC37A2,NSFP1 IS31419,IS39716,IS39718,MS11733 dgv3212n71 17 41847635 41922658 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908513,nsv908527,nsv908523 M 6533 16 13 NSFP1 IS30506,IS31330,IS32761,IS33196,IS33543,IS33544,IS40928,IS40942,IS41319,IS41452,IS41456,MS10638,MS11157,MS11361,MS12555,MS13402,MS18348,MS18479,MS19503,MS20690,MS20997,SP51054,SP51178,SP52095,SP53289,SP53972,SP54621,SP55647,SP56724 dgv3213n71 17 41862077 41922658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908525,nsv908526 M 6533 0 2 "" IS30516,IS39643 nsv908529 17 41874558 41922658 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526818,nssv1572883 M 6533 1 1 "" IS33192,SP57852 nsv908530 17 41874558 41978948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540409 S 6533 0 1 ARL17A,LRRC37A2 MS14835 nsv510715 17 41885305 42104457 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622720 S 4 0 1 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 NA18994 nsv908531 17 41886849 41922658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516812,nssv1517004 M 6533 2 0 "" SP56947,SP57021 nsv908532 17 41886849 41949447 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528317 S 6533 1 0 ARL17A,LRRC37A2 SP81191 dgv14n31 17 41915001 41998660 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471503,nsv471508 M 3 ARL17A,ARL17B,LRRC37A2 nsv433450 17 41922658 42005250 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463331 S 9 1 0 Samples from several populations that are part of the HapMap project. ARL17A,ARL17B,LRRC37A2 NA12878 nsv433451 17 41936430 42092850 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463332 S 9 1 0 Samples from several populations that are part of the HapMap project. ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 NA19240 nsv469644 17 41941680 42110774 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649571 M 265 32 26 Samples from several populations that are part of the HapMap project. ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 nsv471700 17 41941681 42110774 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549830,nssv549834,nssv549835,nssv549818,nssv549822,nssv549823,nssv549825,nssv549828,nssv549829,nssv549819,nssv549820,nssv549831,nssv549826,nssv549832,nssv549824,nssv549827,nssv549833,nssv549821 M 48 12 6 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 JK1051,JK1688,NA10492,NA10967,NA10970,NA10971,NA11323,NA11776,NA15728,NA15729,NA16688,NA17014,NA17015,NA17016,NA17017,NA17020,NA17058,P86GA nsv820933 17 41945340 42142846 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419944 S 1 0 1 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 NA10851 nsv833464 17 41949832 42110026 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453507 S 95 1 0 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 nsv908533 17 41963034 42043082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507347 S 6533 1 0 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 SP54532 dgv3214n71 17 41963034 42143493 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908535,nsv908534 M 6533 2 3 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 MS10094,MS10991,MS16368,MS16506,MS19003 dgv3215n71 17 41963034 42145386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908547,nsv908536 M 6533 0 2 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 MS15768,SP50856 dgv3216n71 17 41978948 42143493 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908548,nsv908556,nsv908537,nsv908540 M 6533 13 0 ARL17A,ARL17B,LRRC37A2,NSF,NSFP1 IS30051,IS30766,IS33345,IS34543,IS38220,IS39009,IS39356,IS40068,IS41795,IS41801,MS17689,MS17794,SP57599 nsv471401 17 41989936 42012375 CNV Complex Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548176,nssv548174,nssv548175 M 3 ARL17A,ARL17B nsv482202 17 41989936 42012375 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558563 S 1 1 0 ARL17A,ARL17B KB1 nsv908538 17 41990116 42043082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542664 S 6533 0 1 ARL17A,ARL17B,NSF,NSFP1 MS15826 dgv3217n71 17 41990116 42092850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908544,nsv908539 M 6533 0 8 ARL17A,ARL17B,NSF,NSFP1 MS10821,MS11791,MS13118,MS13428,MS14637,MS15482,SP55401,SP57078 dgv3218n71 17 41990116 42143493 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908560,nsv908549,nsv908559,nsv908551,nsv908561,nsv908541,nsv908557 M 6533 145 88 ARL17A,ARL17B,NSF,NSFP1 IS30148,IS30224,IS30300,IS31799,IS32703,IS32763,IS32817,IS32828,IS32893,IS32990,IS33023,IS33494,IS33829,IS33871,IS33975,IS34386,IS34523,IS34684,IS34701,IS34760,IS34770,IS34791,IS35014,IS35099,IS35176,IS35411,IS35561,IS35676,IS35776,IS36820,IS37291,IS37435,IS37480,IS37861,IS38058,IS38114,IS38268,IS38280,IS38344,IS38367,IS38399,IS38479,IS38524,IS38589,IS38600,IS38602,IS38610,IS38660,IS39125,IS39181,IS39194,IS39320,IS39373,IS39393,IS39400,IS39627,IS40027,IS40033,IS40334,IS40473,IS40581,IS40616,IS40625,IS40660,IS40676,IS40907,IS40930,IS40943,IS41424,IS41837,MS10065,MS10120,MS11031,MS11049,MS11057,MS12606,MS12719,MS13093,MS13143,MS13360,MS14111,MS14502,MS14658,MS15083,MS15600,MS15601,MS15637,MS15771,MS15877,MS16188,MS16206,MS16381,MS16396,MS16564,MS16704,MS16740,MS16835,MS16837,MS16902,MS17036,MS17275,MS17278,MS17375,MS17447,MS17599,MS17820,MS18101,MS18248,MS18789,MS18876,MS19438,MS19700,MS19746,MS20039,MS20229,MS20503,MS20747,MS20885,MS21558,MS21776,MS21857,MS23071,MS23165,MS24210,MS24219,MS24225,MS24285,MS24969,MS24971,MS25330,MS25580,MS25939,MS26030,SP50038,SP50129,SP50156,SP50519,SP50523,SP50528,SP50537,SP50766,SP50802,SP50823,SP50904,SP50915,SP50940,SP50989,SP51031,SP51043,SP51079,SP51104,SP51118,SP51140,SP51175,SP51411,SP52109,SP52131,SP52195,SP52234,SP52243,SP52455,SP52648,SP52716,SP52728,SP52816,SP53320,SP53330,SP53596,SP53719,SP53964,SP54002,SP54048,SP54058,SP54294,SP54362,SP54373,SP54384,SP54575,SP54591,SP54607,SP54627,SP54666,SP54673,SP54680,SP54734,SP54760,SP54812,SP54816,SP54952,SP55019,SP55021,SP55093,SP55100,SP55267,SP55355,SP55424,SP55539,SP55553,SP55729,SP55803,SP55807,SP55966,SP55971,SP55992,SP56022,SP56023,SP56107,SP56197,SP56213,SP56380,SP56518,SP56653,SP56794,SP56816,SP56875,SP56922,SP56950,SP56960,SP56971,SP57037,SP57160,SP57254,SP57324,SP57328,SP57445,SP57852,SP57941,SP58259,SP80968,SP81349,SP81461,SP81485,SP81503 dgv3219n71 17 41995665 42043082 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908542,nsv908552,nsv908543 M 6533 10 6 ARL17A,ARL17B,NSF,NSFP1 IS30350,IS33372,IS34262,IS34510,IS38202,IS38495,IS40137,MS12917,MS14681,MS25725,MS25833,SP51102,SP54117,SP54580,SP54769,SP55915 dgv3220n71 17 41995665 42092850 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv908546,nsv908550,nsv908545,nsv908554,nsv908555 M 6533 30 126 ARL17A,ARL17B,NSF,NSFP1 IS30179,IS30284,IS30953,IS31326,IS31479,IS32806,IS33403,IS33749,IS34059,IS34807,IS35506,IS36492,IS38093,IS38277,IS39335,IS39428,IS40205,IS40643,IS40752,IS41013,IS41404,IS41869,MS10102,MS10352,MS10362,MS10444,MS10461,MS10566,MS10665,MS10674,MS10721,MS10897,MS10922,MS10959,MS11191,MS11199,MS11364,MS11522,MS11632,MS11738,MS11993,MS12211,MS12365,MS12520,MS12539,MS12572,MS12597,MS12685,MS12688,MS12724,MS12859,MS12863,MS12991,MS13148,MS13383,MS13758,MS14101,MS14323,MS14388,MS14513,MS14601,MS14801,MS14824,MS15014,MS15528,MS15610,MS15803,MS16124,MS16137,MS16271,MS16588,MS16611,MS16834,MS16852,MS17091,MS17204,MS17502,MS18028,MS18484,MS18837,MS18848,MS19062,MS19140,MS19177,MS19292,MS19365,MS19922,MS20288,MS20355,MS21343,MS21390,MS21458,MS21483,MS21506,MS21840,MS22022,MS22337,MS22764,MS22894,MS22970,MS23110,MS23178,MS23451,MS23541,MS23542,MS23550,MS23701,MS23798,MS23805,MS23997,MS24098,MS24141,MS24151,MS24274,MS24357,MS24372,MS24798,MS25259,MS25308,MS25498,MS25805,MS25887,MS25966,MS26120,SP50830,SP51123,SP51359,SP51494,SP52175,SP52351,SP52376,SP52419,SP52439,SP52464,SP52579,SP52772,SP52904,SP53068,SP53154,SP53252,SP53531,SP53987,SP54994,SP55084,SP55868,SP56505,SP56633,SP56937,SP57410,SP58377,SP81120,SP81276,SP81352,SP81359,SP81417,SP81448 nsv471514 17 41998661 42133889 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547877,nssv547876 M 3 ARL17A,ARL17B,NSF,NSFP1 dgv3221n71 17 42005250 42092850 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908553,nsv908558 M 6533 2 0 ARL17A,ARL17B,NSF,NSFP1 MS15509,SP57779 dgv16n14 17 42005250 42145209 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433309,nsv433312,nsv433311 M 9 0 3 ARL17A,ARL17B,NSF,NSFP1 NA12878,NA18507,NA18517 nsv471402 17 42023354 42190000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548177,nssv548179 M 3 NSF,NSFP1 nsv833465 17 42061812 42244748 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453535,nssv1453528,nssv1453512,nssv1453519,nssv1453523,nssv1453522,nssv1453520,nssv1453524,nssv1453529,nssv1453525,nssv1453527,nssv1453510,nssv1453511,nssv1453531,nssv1453534,nssv1453530,nssv1453509,nssv1453508,nssv1453533,nssv1453521,nssv1453532,nssv1453544,nssv1453513,nssv1453537,nssv1453536,nssv1453518,nssv1453540,nssv1453539,nssv1453538,nssv1453543,nssv1453541,nssv1453542,nssv1453517,nssv1453526,nssv1453547,nssv1453546,nssv1453545,nssv1453516,nssv1453514,nssv1453515 M 95 0 40 NSF,NSFP1,WNT3 nsv908562 17 42184098 42457412 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593960 S 6533 1 0 GOSR2,NSF,RPRML,WNT3,WNT9B IS39643 esv28523 17 42203622 42204864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12893 S 451 0 1 WNT3 NA07045 esv1005788 17 42228443 42232664 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565076 S 3 0 1 WNT3 HuRef esv1008863 17 42243653 42243653 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579654 S 3 1 0 WNT3 HuRef nsv527367 17 42280490 42280547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703798 S 2026 0 1 "" dgv986e1 17 42326359 42632332 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv657,essv22301,essv3126,essv22132,essv6328,essv7131,essv12219,essv5364,essv16273,essv22199,essv17744,essv467,essv20070,essv5488,essv21070,essv7419,essv24999,essv1588,essv3372,essv14792,essv2904,essv369,essv23586,essv23444,essv160,essv21305 M 271 0 0 CDC27,GOSR2,RPRML NA06985,NA06991,NA07048,NA10831,NA10839,NA10854,NA10855,NA10857,NA12006,NA12044,NA18537,NA18563,NA18609,NA18623,NA18632,NA18942,NA18945,NA18952,NA18953,NA18968,NA18969,NA18971,NA18975,NA19101,NA19159,NA19161 nsv528514 17 42334704 42338180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705121 S 2026 0 1 "" dgv41n68 17 42375359 42607623 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833467,nsv833466 M 95 0 4 CDC27,RPRML nsv522797 17 42439278 42538151 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698442 S 2026 1 0 "" nsv9565 17 42443303 42490258 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26305,nssv23474,nssv28323,nssv24987,nssv27120,nssv24530,nssv24260,nssv24021,nssv23398,nssv24737,nssv21589,nssv24357,nssv23106 M 31 13 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA11830,NA18502,NA18537,NA18563,NA18564,NA18572,NA18942,NA18975,NA18980,NA19221,NA19240 esv24767 17 42446144 42532220 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16081,esv16604,esv16289,esv19725,esv16013,esv9886,esv21010 M 451 30 1 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820424 17 42469978 42490614 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419945 S 1 0 1 "" NA10851 nsv521632 17 42506548 42551189 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698251 S 2026 1 0 CDC27 nsv908563 17 42513536 42585310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579435 S 6533 0 1 CDC27 IS35100 esv2543466 17 42563983 42564548 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385046 S 1 1 0 CDC27 NA18507 nsv513476 17 42564130 42564309 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625881 S 1 1 0 CDC27 1 esv1725912 17 42564254 42564254 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349617 S 2 1 0 CDC27 HuRef esv22671 17 42567899 42569697 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19172 S 451 1 0 CDC27 NA18861 esv7866 17 42568178 42568621 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30307 S 1 0 1 CDC27 SJK dgv532n67 17 42568531 42569710 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828032,nsv828029,nsv828028 M 31 6 0 CDC27 AK14,NA18542,NA18949,NA18968,NA18969,NA18999 esv2655194 17 42568765 42571341 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174814 S 1 1 0 CDC27 NA18507 esv6742 17 42569727 42574239 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29183 S 1 0 1 CDC27 SJK esv5454 17 42569728 42571104 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27895 S 1 0 1 CDC27 SJK esv4562 17 42570734 42573793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27003 S 1 0 1 Single Asian sample YH CDC27 YH esv8768 17 42571217 42574226 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31209 S 1 0 1 CDC27 SJK esv4309 17 42572225 42575291 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26750 S 1 0 0 Single Asian sample YH CDC27 YH esv7557 17 42574790 42576252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29998 S 1 0 1 CDC27 SJK esv8272 17 42574797 42587028 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30713 S 1 0 1 CDC27 SJK esv4896 17 42578248 42588035 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27337 S 1 0 1 Single Asian sample YH CDC27 YH esv6177 17 42589404 42590570 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28618 S 1 0 1 CDC27 SJK esv5729 17 42590669 42604306 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28170 S 1 0 1 CDC27 SJK esv2990 17 42600032 42603948 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25431 S 1 0 1 Single Asian sample YH CDC27 YH esv3584 17 42601215 42620641 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26025 S 1 0 0 Single Asian sample YH CDC27 YH esv3790 17 42602092 42616517 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26231 S 1 0 1 Single Asian sample YH CDC27 YH esv6495 17 42602407 42604307 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28936 S 1 0 1 CDC27 SJK dgv56e19 17 42602407 42621528 CNV Loss Ahn et al 2009 19470904 Sequencing esv6873,esv8330 M 1 0 1 CDC27 SJK esv4785 17 42613972 42621556 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27226 S 1 0 0 Single Asian sample YH CDC27 YH esv4323 17 42613972 42621557 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26764 S 1 0 1 Single Asian sample YH CDC27 YH nsv521092 17 42664692 42672498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697782 S 2026 0 1 "" esv1424224 17 42757407 42757407 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645750 S 2 1 0 C17orf57 HuRef nsv470590 17 42774137 42902076 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547478 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf57,MRPL45P2 HGDP00693 nsv457821 17 42774138 42902077 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534942 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf57,MRPL45P2 HGDP00356 nsv516872 17 42774138 43057279 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654611,nssv656569,nssv698106 M 2026 1 2 C17orf57,MRPL45P2,NPEPPS nsv908564 17 42777627 42877310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521382,nssv1521516,nssv1563197,nssv1551236 M 6533 0 4 C17orf57 MS18837,MS25891,SP52364,SP52416 nsv908565 17 42801157 42849644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514722 S 6533 0 1 C17orf57 SP56047 nsv525267 17 42806893 43090705 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701367 S 2026 1 0 C17orf57,KPNB1,MRPL45P2,NPEPPS nsv908566 17 42820734 42924713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598000 S 6533 0 1 C17orf57,MRPL45P2 IS41317 nsv908567 17 42828106 42849644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519217,nssv1507513,nssv1499722 M 6533 0 3 C17orf57 SP50562,SP54580,SP80986 nsv908568 17 42861681 42945419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596863 S 6533 0 1 C17orf57,MRPL45P2 IS40657 nsv833468 17 42866562 43038163 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453552 S 95 1 0 C17orf57,MRPL45P2,NPEPPS nsv469573 17 42866581 43053941 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649686 M 265 31 0 Samples from several populations that are part of the HapMap project. C17orf57,MRPL45P2,NPEPPS nsv471701 17 42866582 43053941 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549459,nssv549464,nssv549466,nssv549462,nssv549465,nssv549468,nssv549460,nssv549463,nssv549471,nssv549470,nssv549457,nssv549461,nssv549458,nssv549469,nssv549467 M 48 15 0 C17orf57,MRPL45P2,NPEPPS JK1051,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA17015,NA17052,P86GA dgv987e1 17 42875373 43119955 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16714,essv14411,essv19693,essv17566,essv18214,essv8840,essv1883,essv11985,essv1265,essv11197,essv5486,essv10735,essv1760,essv539,essv12683,essv8629,essv12525,essv14635,essv14074,essv12595,essv7583,essv10952,essv8240,essv15023,essv12824,essv13584,essv9212,essv2041,esv355,essv9448,essv15751,essv10108,essv7083,essv11022,essv21835,essv7348,essv10237,essv13197,essv13773,essv16160,essv8156,essv14471,essv16915,essv11695,essv4605,essv17021,essv14333,essv4028,essv13733,essv13053,essv9930,essv9319,essv10551,essv11545,essv13902,essv13485,essv11890,essv8382,essv12974,essv9152,essv16304,essv18127,essv17138,essv12390,essv15332,essv7703,essv9755,essv14577,essv10848,essv10432,essv10020,essv16778,essv9091,essv15625,essv10269,essv17076,essv9680,essv12729,essv6735,essv16509,essv1121,essv22364,essv15985,essv7192,essv13575,essv14715,essv15806,essv11948,essv11176,essv17248,essv2252,essv10391,essv15531,essv3133,essv21295 M 271 0 0 KPNB1,MRPL45P2,NPEPPS NA10855,NA11839,NA11993,NA12057,NA12264,NA12762,NA12875,NA18500,NA18501,NA18502,NA18503,NA18505,NA18506,NA18507,NA18508,NA18515,NA18517,NA18523,NA18524,NA18537,NA18545,NA18547,NA18562,NA18570,NA18632,NA18633,NA18635,NA18852,NA18853,NA18854,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18871,NA18872,NA18912,NA18913,NA18914,NA18949,NA18964,NA18966,NA18969,NA18976,NA18995,NA18997,NA18998,NA19093,NA19098,NA19099,NA19100,NA19102,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239,NA19240 nsv428344 17 42875373 43119955 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453489,nssv453484,nssv453481,nssv453486,nssv453483,nssv453482,nssv453479,nssv453485,nssv453488,nssv453490,nssv453480,nssv453478 M 62 12 0 KPNB1,MRPL45P2,NPEPPS HGDP00449,HGDP00463,HGDP00471,HGDP00986,HGDP01087,NA18498,NA19096,NA19108,NA19113,NA19189,NA19225,NA19257 nsv908569 17 42892394 42958093 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594471 S 6533 1 0 MRPL45P2 IS39886 nsv9566 17 42905585 42914286 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21130,nssv24556,nssv27064,nssv24834,nssv24314,nssv23426,nssv24401,nssv21155 M 31 8 0 Samples from several populations that are part of the HapMap project. MRPL45P2 NA07029,NA10847,NA12740,NA12802,NA18552,NA18972,NA18980,NA19007 esv33689 17 42906958 43019574 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100561 S 51 0 1 MRPL45P2,NPEPPS 22298 nsv471513 17 42907079 43026438 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547875,nssv547874,nssv547873 M 3 MRPL45P2,NPEPPS essv3532 17 42915095 43085418 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. KPNB1,MRPL45P2,NPEPPS NA18965 nsv908570 17 42926501 43039650 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565024 S 6533 1 0 NPEPPS IS30336 nsv9567 17 42951158 42953007 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27074 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv471403 17 42963443 43055641 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548181,nssv548180,nssv548182 M 3 NPEPPS nsv482203 17 42963443 43055641 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558564 S 1 1 0 NPEPPS KB1 nsv821341 17 42966030 43026631 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419946 S 1 1 0 NPEPPS NA10851 nsv828033 17 42966030 43026631 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434761,nssv1428708,nssv1438494,nssv1423009,nssv1424625,nssv1434047,nssv1436552,nssv1435483,nssv1426195,nssv1440022,nssv1439355,nssv1430295,nssv1431706,nssv1440711,nssv1427913,nssv1430853,nssv1437095 M 31 17 0 NPEPPS AK10,AK18,AK4,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18973 nsv9568 17 42968660 43027772 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21649,nssv26975,nssv26520,nssv25534,nssv23940,nssv27130,nssv23134,nssv24763,nssv26015,nssv26322,nssv27457,nssv24340,nssv23502,nssv25310,nssv27132,nssv27465,nssv21619,nssv24427,nssv24048,nssv26506,nssv24668,nssv28325,nssv23162,nssv21185,nssv27084,nssv24642,nssv23625 M 31 14 12 Samples from several populations that are part of the HapMap project. NPEPPS NA10847,NA10863,NA12155,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv26181 17 42971209 43026172 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16149,esv10606,esv12768 M 451 20 8 NPEPPS NA07037,NA11931,NA11993,NA12156,NA12239,NA12414,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514851 17 42971236 43018268 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627184 S 1414 0 0 NPEPPS nsv821688 17 42971395 42992601 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421326 S 31 1 0 NPEPPS esv995713 17 42987209 43028516 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586258 S 3 1 0 NPEPPS HuRef nsv828034 17 42992320 43022517 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430979,nssv1421519,nssv1429465,nssv1423828,nssv1437823,nssv1430219,nssv1422240,nssv1432511 M 31 8 0 NPEPPS AK12,AK14,AK16,AK20,NA18949,NA18969,NA18997,NA18999 nsv908571 17 43120248 43176509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510209 S 6533 0 1 TBKBP1,TBX21 SP54956 nsv9570 17 43125872 43134790 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27170 S 31 1 0 Samples from several populations that are part of the HapMap project. TBKBP1 NA18502 nsv2071 17 43156502 43199228 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7330 S 9 0 1 TBX21 NA12156 nsv507841 17 43168185 43174185 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617919 S 4 1 0 TBX21 CHM nsv908572 17 43213486 43255855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592378 S 6533 0 1 MRPL10,OSBPL7 IS39233 nsv908573 17 43213486 43311072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530889 S 6533 0 1 LRRC46,MRPL10,OSBPL7,SCRN2,SP6 MS10311 nsv908574 17 43231021 43285583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543727 S 6533 0 1 LRRC46,MRPL10,OSBPL7,SCRN2,SP6 MS16153 nsv517880 17 43242950 43288340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695288 S 2026 0 1 LRRC46,MRPL10,OSBPL7,SCRN2,SP6 nsv518892 17 43242950 43384431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696351 S 2026 0 1 LRRC46,MRPL10,OSBPL7,PNPO,PRR15L,SCRN2,SP2,SP6 esv23195 17 43243219 43243870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21396 S 451 0 1 OSBPL7 NA18505 nsv908575 17 43312590 43404532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552790 S 6533 0 1 CDK5RAP3,PNPO,PRR15L,SP2 MS19630 nsv2072 17 43353636 43374625 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7331 S 9 0 1 PNPO,SP2 NA12156 esv1000014 17 43374227 43384456 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565439 S 3 0 1 PNPO,PRR15L HuRef nsv469808 17 43404867 43583672 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649829 M 265 0 0 Samples from several populations that are part of the HapMap project. CBX1,CDK5RAP3,COPZ2,MIR152,NFE2L1,SKAP1,SNX11 nsv527427 17 43425252 43426583 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703866 S 2026 1 0 "" nsv908576 17 43502806 43615365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540645 S 6533 1 0 CBX1,MIR1203,SKAP1,SNX11 MS14942 esv2582446 17 43514192 43517779 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280834 S 1 0 1 CBX1 NA18507 esv1003767 17 43521495 43522736 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564218 S 3 1 0 CBX1 HuRef nsv513477 17 43521844 43522037 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625882 S 1 1 0 CBX1 1 nsv112217 17 43537710 43545092 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130795 M 24 SNX11 esv1007058 17 43543740 43555366 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565548 S 3 0 1 SNX11 HuRef esv23897 17 43755512 43757256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11053 S 451 0 1 SKAP1 NA07045 nsv833469 17 43846848 44064405 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453553 S 95 0 1 HOXB1,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A,SKAP1 esv268582 17 43859971 43860297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575809,essv2540728,essv2546372,essv2521278,essv2526091,essv2536365,essv2570833,essv2523332,essv2577198,essv2548578,essv2525451,essv2554158,essv2520641,essv2529148,essv2558370,essv2559730,essv2565347,essv2576301,essv2520157,essv2562007,essv2537507,essv2528482,essv2547088,essv2556842,essv2552562,essv2578684,essv2537103,essv2527108,essv2523648,essv2541103,essv2542703,essv2540471,essv2549177,essv2566162,essv2541492,essv2569926,essv2563808,essv2566804,essv2542018,essv2551120,essv2568936,essv2543500,essv2527993,essv2533914,essv2555240,essv2557613,essv2573404,essv2526985,essv2575729,essv2575292,essv2538688,essv2526327,essv2574605,essv2530192,essv2545178,essv2571297,essv2545965,essv2574472,essv2536141,essv2532946,essv2524793,essv2558080 M 157 62 0 Samples from several populations that are part of the HapMap project. SKAP1 NA06986,NA07051,NA07357,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11993,NA12004,NA12043,NA12045,NA12156,NA12287,NA12716,NA12749,NA12750,NA12776,NA12812,NA12814,NA12815,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18510,NA18517,NA18522,NA18537,NA18545,NA18550,NA18552,NA18564,NA18572,NA18592,NA18593,NA18603,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18916,NA18943,NA18953,NA18964,NA19005,NA19099,NA19102,NA19108,NA19114,NA19138,NA19141,NA19172,NA19238,NA19239,NA19240 esv273577 17 43859971 43860297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582198,essv2582371,essv2583167,essv2584146,essv2584734,essv2583868 M 7 6 0 Samples from several populations that are part of the HapMap project. SKAP1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1002528 17 43921179 43930959 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563854 S 3 0 1 "" HuRef dgv3222n71 17 43939899 44059535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908577,nsv908578 M 6533 0 2 HOXB1,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A IS37646,MS10311 dgv3223n71 17 43947412 44090519 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908581,nsv908579,nsv908584 M 6533 0 3 HOXB1,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A,MIR196A1 MS17208,SP54956,SP54988 dgv988e1 17 43957672 44191836 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv664,essv19288,essv22851 M 271 0 0 HOXB1,HOXB13,HOXB13-AS1,HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A,MIR196A1,MIR3185,PRAC NA10838,NA12004 dgv3224n71 17 43964102 44059535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908583,nsv908580,nsv908582 M 6533 0 7 HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A IS32322,IS32841,IS33504,IS33601,MS16153,MS17522,MS18276 esv6593 17 43970762 43972280 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29034 S 1 0 1 "" SJK esv273474 17 43972141 43972310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580648,essv2579669 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270742 17 43972192 43972296 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510241,essv2510140,essv2503240,essv2496640,essv2506810,essv2511199,essv2495281,essv2504443,essv2499348,essv2505108,essv2508013,essv2500173,essv2512450,essv2499466,essv2508037,essv2501713,essv2505530,essv2512250,essv2513213,essv2495360,essv2510348,essv2495911,essv2503449,essv2508542,essv2508364,essv2502524,essv2507727,essv2503800,essv2493473,essv2505061,essv2508909,essv2500353,essv2502812,essv2496759,essv2510690,essv2493264,essv2504061,essv2502993,essv2509708,essv2493702,essv2494645,essv2500366,essv2503261,essv2497292,essv2513009,essv2494616,essv2497187,essv2497815,essv2500013,essv2508321,essv2499889,essv2504514,essv2507827,essv2506399,essv2511265,essv2494501,essv2500118,essv2507612,essv2512722,essv2508105,essv2508418,essv2508649,essv2510001,essv2507540,essv2505264,essv2498388,essv2505728,essv2513564,essv2511695,essv2504923,essv2503163,essv2511118,essv2503467,essv2505425,essv2500513,essv2505619,essv2509552,essv2497490,essv2510463,essv2493889,essv2499728,essv2512115,essv2501997,essv2495804,essv2503909,essv2511517,essv2499518,essv2513109 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11829,NA11881,NA11894,NA11918,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18498,NA18501,NA18504,NA18505,NA18507,NA18508,NA18517,NA18519,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18638,NA18853,NA18858,NA18861,NA18907,NA18940,NA18942,NA18943,NA18944,NA18947,NA18952,NA18956,NA19005,NA19129,NA19147,NA19172,NA19210,NA19225,NA19238,NA19257 nsv112225 17 43972220 43972220 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130803 M 24 "" nsv833471 17 43972786 44138344 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453554 S 95 1 0 HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A,MIR196A1 dgv369n27 17 43975401 44053709 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457824,nsv457822 M 1557 0 2 HOXB2,HOXB3,HOXB4,HOXB5,HOXB6,HOXB7,HOXB8,HOXB9,LOC404266,MIR10A NINDS_201,NINDS_210 esv1007307 17 43993900 44008130 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563765 S 3 0 1 HOXB3,HOXB4 HuRef nsv819832 17 44008300 44009187 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419109 S 2 1 0 HOXB4 AK1 esv28375 17 44087108 44138717 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13317 S 451 1 0 "" NA12004 essv21903 17 44093882 44118402 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10838 esv2559363 17 44258473 44262834 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296964 S 1 0 1 "" NA18507 esv29639 17 44259885 44263429 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17079 S 451 0 8 CALCOCO2 NA18508,NA18858,NA18861,NA18916,NA19114,NA19129,NA19147,NA19257 nsv828035 17 44261035 44262016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437096 S 31 0 1 "" NA18542 esv1761794 17 44299073 44299383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277651 S 2 0 1 "" HuRef nsv111938 17 44314280 44322796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130516 M 24 "" nsv833472 17 44328201 44510742 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453555 S 95 1 0 ATP5G1,GIP,IGF2BP1,SNF8,UBE2Z nsv2073 17 44360632 44395064 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1374 S 9 1 0 GIP,SNF8,UBE2Z NA19240 nsv482204 17 44390917 44400954 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558565 S 1 0 1 GIP KB1 esv2651898 17 44391705 44393609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376677 S 1 0 1 GIP NA18507 dgv14e194 17 44391993 44392899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2027035,esv2011242 M 1 0 1 GIP NA18507 esv2237705 17 44392020 44392471 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605598 S 1 0 1 GIP NA18507 esv21954 17 44392072 44392971 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20133 S 451 1 5 GIP NA18861,NA18909,NA18916,NA19099,NA19147,NA19257 nsv820855 17 44392072 44392971 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419947 S 1 0 1 GIP NA10851 esv3754 17 44392083 44392900 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26195 S 1 0 1 Single Asian sample YH GIP YH esv1008009 17 44392218 44392577 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579892 S 3 0 1 GIP HuRef dgv51n6 17 44392268 44392867 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv112294,nsv112437 M 24 GIP esv1331947 17 44392312 44392472 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894680 S 2 0 1 GIP HuRef esv1297877 17 44392529 44392689 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748618 S 2 0 1 GIP HuRef nsv510716 17 44474889 44547064 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618948 S 4 0 1 IGF2BP1 NA10860 esv6448 17 44521541 44526821 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28889 S 1 0 1 "" SJK nsv828036 17 44525179 44526043 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434762,nssv1434048,nssv1433305,nssv1430308 M 31 0 4 "" NA18526,NA18570,NA18968,NA18972 esv2478586 17 44582321 44584168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199353 S 1 0 1 B4GALNT2 NA18507 esv1972485 17 44583266 44583920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739241 S 1 0 1 B4GALNT2 NA18507 esv2911 17 44583393 44583815 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25352 S 1 0 1 Single Asian sample YH B4GALNT2 YH esv2445547 17 44583441 44583770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194993 S 1 0 1 B4GALNT2 NA18507 esv1011150 17 44583444 44583773 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576965 S 3 0 1 B4GALNT2 HuRef esv9571 17 44583448 44583768 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32012 S 1 0 1 B4GALNT2 SJK esv1351644 17 44583452 44583782 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084955 S 2 0 1 B4GALNT2 HuRef nsv2074 17 44640532 44666355 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6724 S 9 1 0 ABI3,GNGT2,PHOSPHO1 NA12156 nsv511591 17 44700562 44709784 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626219 S 1 0 1 "" 1 esv2560334 17 44706545 44709318 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197172 S 1 0 1 "" NA18507 nsv512493 17 44706586 44708361 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625093 S 1 0 1 "" 1 esv1948708 17 44706608 44708186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4988603 S 1 0 1 "" NA18507 nsv820591 17 44706617 44707939 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419949 S 1 0 1 "" NA10851 esv7398 17 44706659 44708106 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29839 S 1 0 1 "" SJK esv25209 17 44706962 44707879 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17844 S 451 14 2 "" NA07037,NA11931,NA11995,NA12239,NA12414,NA12776,NA12878,NA15510,NA18505,NA18508,NA18861,NA19129,NA19147,NA19190,NA19240,NA19257 esv271977 17 44727769 44728037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516745,essv2515516,essv2516077,essv2515790 M 157 4 0 Samples from several populations that are part of the HapMap project. ZNF652 NA11881,NA12249,NA12873,NA18969 nsv526307 17 44761912 44795419 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702590 S 2026 1 0 ZNF652 nsv2075 17 44763016 44788109 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7332 S 9 0 1 ZNF652 NA12156 nsv833473 17 44816026 44978287 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453558,nssv1453557,nssv1453556 M 95 1 2 NGFR,PHB nsv520484 17 44899152 44918120 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671808,nssv678968 M 2026 2 0 "" nsv908585 17 44899152 45017682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546949 S 6533 0 1 NGFR,NXPH3 MS17208 nsv2078 17 44965761 45010486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7333 S 9 0 1 NXPH3 NA12156 nsv525469 17 45136676 45152514 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701597 S 2026 1 0 FAM117A,SLC35B1 esv23674 17 45181434 45183173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17336,esv10071 M 451 0 4 FAM117A NA06985,NA11931,NA12004,NA12287 nsv111821 17 45181826 45182888 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130399 M 24 FAM117A nsv821118 17 45278186 45280247 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419950 S 1 1 0 FLJ45513,TAC4 NA10851 nsv828037 17 45278260 45280247 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430980,nssv1421531 M 31 2 0 FLJ45513,TAC4 AK16,NA18969 nsv819145 17 45278283 45280186 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419356 S 2 0 1 FLJ45513,TAC4 AK1 esv25474 17 45278412 45280247 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12707 S 451 0 5 FLJ45513,TAC4 NA12414,NA12776,NA18505,NA18916,NA19240 nsv908586 17 45281848 45353524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510211 S 6533 0 1 "" SP54956 esv275063 17 45292304 45297374 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585238 S 1250 0 1 "" nsv2079 17 45292480 45326517 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2969 S 9 1 0 "" NA18555 nsv833474 17 45294025 45526562 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453559 S 95 0 1 DLX3,DLX4,ITGA3,LOC284080 nsv908587 17 45315805 45345545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510978 S 6533 0 1 "" SP54988 nsv908588 17 45315805 45644069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543729 S 6533 0 1 COL1A1,DLX3,DLX4,HILS1,ITGA3,LOC284080,PDK2,PPP1R9B,SAMD14,SGCA MS16153 nsv908589 17 45397855 45425224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510212 S 6533 0 1 DLX3,DLX4 SP54956 esv24299 17 45402408 45403793 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17957 S 451 1 0 DLX4 NA12878 nsv509660 17 45452448 45515762 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623715 S 4 1 0 ITGA3,LOC284080 NA18994 esv2564256 17 45455480 45458400 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341887 S 1 0 1 "" NA18507 esv1005343 17 45473188 45475780 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565615 S 3 1 0 "" HuRef esv1560545 17 45473490 45473490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606802 S 2 1 0 "" HuRef esv24435 17 45484765 45486255 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15560 S 451 0 1 LOC284080 NA19099 nsv908590 17 45503412 45563273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549927 S 6533 0 1 ITGA3,PDK2,SAMD14 MS18276 dgv3225n71 17 45514200 45644069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908591,nsv908595 M 6533 0 2 COL1A1,HILS1,ITGA3,PDK2,PPP1R9B,SAMD14,SGCA IS39233,MS10311 esv993321 17 45515009 45520798 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565074 S 3 1 0 ITGA3 HuRef esv1740779 17 45518321 45518321 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949182 S 2 1 0 ITGA3 HuRef dgv3226n71 17 45522365 45569133 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908592,nsv908596 M 6533 0 2 ITGA3,PDK2,PPP1R9B,SAMD14 SP51109,SP54988 dgv3227n71 17 45529907 45550817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908593,nsv908594 M 6533 0 3 PDK2,SAMD14 SP50159,SP54043,SP54725 esv1003562 17 45557759 45558208 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586915 S 3 0 1 SAMD14 HuRef nsv828038 17 45580893 45583950 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422942 S 31 1 0 PPP1R9B NA18547 nsv507842 17 45603929 45609929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623224,nssv617920,nssv619185 M 4 3 0 HILS1,SGCA CHM,NA10860,NA18994 nsv908597 17 45619898 45628154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499166 S 6533 0 1 COL1A1 SP50159 nsv833475 17 45651880 45821193 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453560 S 95 0 1 EME1,LRRC59,MRPL27,TMEM92,XYLT2 nsv516463 17 45664873 45671871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672311,nssv668545 M 2026 0 2 "" nsv509661 17 45677932 45739460 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623716 S 4 1 0 TMEM92 NA18994 esv1270724 17 45733243 45733324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904119 S 2 0 1 "" HuRef nsv510438 17 45741569 45747569 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624187 S 4 0 1 "" NA18994 nsv833476 17 45749357 45906345 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453561 S 95 0 1 ACSF2,CHAD,EME1,LRRC59,MRPL27,XYLT2 nsv512494 17 45781548 45784678 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625094 S 1 0 1 XYLT2 1 esv1694921 17 45782307 45782690 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299008 S 2 0 1 XYLT2 HuRef esv2130764 17 45782346 45783050 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819466 S 1 0 1 XYLT2 NA18507 esv4968 17 45782364 45783040 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27409 S 1 0 1 Single Asian sample YH XYLT2 YH esv7737 17 45782447 45782884 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30178 S 1 0 1 XYLT2 SJK nsv112280 17 45782538 45782921 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130858 M 24 XYLT2 nsv519530 17 45788957 45805535 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657074,nssv686494,nssv656702 M 2026 0 3 MRPL27,XYLT2 nsv2080 17 45828120 45873207 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7334 S 9 0 1 ACSF2,LRRC59 NA12156 dgv3228n71 17 45856656 45942306 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908598,nsv908599 M 6533 2 0 ACSF2,CHAD,MYCBPAP,RSAD1 SP50915,SP52593 nsv908600 17 45858309 45998714 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500833 S 6533 1 0 ACSF2,CACNA1G,CHAD,EPN3,LOC253962,MYCBPAP,RSAD1,SPATA20 SP50973 nsv2081 17 45887668 45932180 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2179 S 9 0 1 ACSF2,CHAD,RSAD1 NA18555 esv1211586 17 45908562 45908562 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657725 S 2 1 0 "" HuRef dgv3229n71 17 45933725 46037922 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908601,nsv908603 M 6533 0 2 CACNA1G,EPN3,LOC253962,MYCBPAP,SPATA20 IS37646,IS39233 nsv2082 17 45934075 45960448 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10126 S 9 1 0 MYCBPAP NA18956 nsv833477 17 45949240 46110829 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453567,nssv1453562,nssv1453566,nssv1453564,nssv1453563,nssv1453568,nssv1453565,nssv1453572,nssv1453570,nssv1453569,nssv1453571,nssv1453573 M 95 0 12 ABCC3,CACNA1G,EPN3,LOC253962,MYCBPAP,SPATA20 dgv3230n71 17 45953784 46071719 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908602,nsv908607,nsv908604,nsv908606 M 6533 0 4 ABCC3,CACNA1G,EPN3,LOC253962,MYCBPAP,SPATA20 MS10311,MS16153,MS17208,MS18276 nsv111976 17 45955070 45962857 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130554 M 24 MYCBPAP nsv908605 17 45971657 45997692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510213 S 6533 0 1 CACNA1G,EPN3,LOC253962,SPATA20 SP54956 esv2625984 17 45984841 45984893 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240112 S 1 0 1 SPATA20 NA18507 nsv908608 17 46000610 46065530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557473,nssv1571957 M 6533 0 2 CACNA1G IS32841,MS22705 dgv42n68 17 46016871 46255459 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833478,nsv833479 M 95 0 2 ABCC3,ANKRD40,CACNA1G,LINC00483,LUC7L3 esv989095 17 46020716 46020718 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572303 S 3 1 0 CACNA1G HuRef nsv111873 17 46020718 46020718 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130451 M 24 CACNA1G esv1506174 17 46020719 46020719 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346411 S 2 1 0 CACNA1G HuRef nsv111816 17 46020720 46020720 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130394 M 24 CACNA1G nsv2083 17 46062972 46077744 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1375 S 9 1 0 ABCC3 NA19240 nsv908609 17 46080603 46122430 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548281 S 6533 1 0 ABCC3 MS17785 nsv111922 17 46125721 46126489 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130500 M 24 ANKRD40 esv2242752 17 46133276 46133702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661277 S 1 0 1 ANKRD40 NA18507 nsv507843 17 46165485 46171485 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623225 S 4 1 0 LUC7L3 NA18994 esv2615229 17 46176162 46177466 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252274 S 1 0 1 LUC7L3 NA18507 esv2448711 17 46183938 46185438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242928 S 1 0 1 LUC7L3 NA18507 esv1295497 17 46313099 46313099 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231931 S 2 1 0 "" HuRef nsv112079 17 46313125 46313125 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130657 M 24 "" nsv112476 17 46315725 46315776 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131054 M 24 "" nsv457825 17 46331231 46438527 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534945 S 1557 1 0 SPAG9 1780854328_A esv270376 17 46353399 46353739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514515,essv2516747,essv2518611,essv2516501,essv2514408,essv2517666 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12287,NA12814,NA12874,NA12878 esv273901 17 46353399 46353739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581606 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1006619 17 46357963 46369455 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564170 S 3 0 1 "" HuRef dgv69e180 17 46359092 46368385 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989743,esv1005053 M 3 0 1 "" HuRef nsv833480 17 46400485 46560339 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453576,nssv1453577,nssv1453578 M 95 0 3 SPAG9 nsv525470 17 46422762 46516580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701598 S 2026 0 1 SPAG9 nsv908610 17 46440174 46484591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499618 S 6533 0 1 SPAG9 SP50120 esv2178597 17 46509154 46509641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4795157 S 1 0 1 SPAG9 NA18507 nsv520111 17 46783558 46803529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660830,nssv690521 M 2026 0 2 "" nsv2084 17 46827085 46872235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7336 S 9 0 1 "" NA12156 dgv370n27 17 46849574 46910094 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457826,nsv457827 M 1557 2 0 "" 1780862301_A,1780862584_A nsv516691 17 46849574 46910094 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670190,nssv659558,nssv690888 M 2026 3 0 "" nsv2085 17 46854280 46886879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6725 S 9 1 0 "" NA12156 nsv457830 17 46869866 46891150 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534949 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00241 esv25367 17 46874906 46875373 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20797 S 451 0 1 "" NA18916 esv268138 17 46884361 46884446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514111,essv2515511,essv2515560 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12249,NA12815 nsv527842 17 46902697 46988478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704340 S 2026 0 1 "" esv1445702 17 46942539 46942539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133110 S 2 1 0 "" HuRef nsv519579 17 46964280 46988478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696932 S 2026 0 1 "" esv2573895 17 46978287 46982617 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341524 S 1 0 1 "" NA18507 esv2069213 17 46978827 46982220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968758 S 1 0 1 "" NA18507 nsv828039 17 46978954 46980711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435484,nssv1427123,nssv1433306,nssv1422242,nssv1431707,nssv1440023 M 31 0 6 "" AK18,AK6,NA18537,NA18942,NA18972,NA18997 esv22320 17 46979028 46982066 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12891 S 451 0 14 "" NA18502,NA18505,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 esv2462601 17 46979285 46982091 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281747 S 1 0 1 "" NA18507 esv2612428 17 47045286 47046188 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255332 S 1 1 0 "" NA18507 esv34090 17 47170360 47204207 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CA10 nsv908611 17 47202057 47369531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589771 S 6533 0 1 CA10 IS38403 nsv2086 17 47235979 47271164 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4274 S 9 1 0 CA10 NA12878 esv24039 17 47252967 47254370 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13980 S 451 0 1 CA10 NA12287 nsv828040 17 47265851 47266314 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432512 S 31 1 0 CA10 AK20 nsv833482 17 47283330 47476499 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453579 S 95 1 0 CA10 nsv507844 17 47328333 47334333 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619186 S 4 1 0 CA10 NA10860 esv2567906 17 47331824 47332886 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175604 S 1 1 0 CA10 NA18507 nsv828041 17 47334520 47491463 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421542 S 31 0 1 CA10 NA18969 nsv2087 17 47339861 47373394 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2970,nssv1376 M 9 2 0 CA10 NA18555,NA19240 esv273536 17 47404704 47404838 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578893 S 7 1 0 Samples from several populations that are part of the HapMap project. CA10 NA19239 esv270984 17 47404707 47405045 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571759,essv2542416,essv2545283,essv2529269,essv2520045,essv2554883,essv2562676,essv2561578,essv2541129,essv2541527,essv2553406,essv2535728,essv2559361,essv2568863,essv2543605,essv2533435,essv2566576,essv2575486,essv2575140,essv2526586,essv2574888,essv2530424,essv2572754,essv2568578,essv2560416,essv2571181 M 157 26 0 Samples from several populations that are part of the HapMap project. CA10 NA11840,NA11919,NA12003,NA12749,NA12815,NA12872,NA18507,NA18523,NA18545,NA18592,NA18605,NA18608,NA18638,NA18861,NA18870,NA18944,NA18948,NA19099,NA19102,NA19114,NA19138,NA19141,NA19143,NA19147,NA19190,NA19238 nsv828043 17 47471576 47481187 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436563 S 31 0 1 CA10 NA18592 esv9578 17 47471616 47481359 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32019 S 1 0 1 CA10 SJK esv4530 17 47477103 47477689 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26971 S 1 0 1 Single Asian sample YH CA10 YH esv9077 17 47602386 47602461 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31518 S 1 1 0 "" SJK nsv528447 17 47678520 48473172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705043 S 2026 0 1 LOC100506650 nsv428345 17 47703159 47866535 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453511 S 62 0 1 "" HGDP00986 esv271198 17 47753471 47753798 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575795,essv2546500,essv2521228,essv2526241,essv2536456,essv2544053,essv2545677,essv2531982,essv2570617,essv2521523,essv2576849,essv2550660,essv2525394,essv2554289,essv2544305,essv2520652,essv2558493,essv2577783,essv2553732,essv2565536,essv2576508,essv2520020,essv2530855,essv2537448,essv2528563,essv2578753,essv2550005,essv2544715,essv2553098,essv2542845,essv2540630,essv2534857,essv2560991,essv2549561,essv2521961,essv2566115,essv2530975,essv2532900,essv2567975,essv2572273,essv2558997,essv2542180,essv2543643,essv2539498,essv2578378,essv2533704,essv2567120,essv2530035,essv2527713,essv2557616,essv2531280,essv2543397,essv2572107,essv2529693,essv2575150,essv2526702,essv2560752,essv2524237,essv2545040,essv2560476,essv2571163,essv2551511,essv2536064,essv2548909,essv2547994 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA11830,NA11881,NA11894,NA11918,NA11920,NA11992,NA12003,NA12006,NA12044,NA12144,NA12154,NA12155,NA12156,NA12287,NA12414,NA12716,NA12750,NA12761,NA12763,NA12812,NA12814,NA12815,NA12873,NA12878,NA12891,NA18510,NA18511,NA18526,NA18542,NA18550,NA18552,NA18561,NA18562,NA18564,NA18571,NA18572,NA18573,NA18576,NA18577,NA18609,NA18638,NA18856,NA18870,NA18912,NA18940,NA18944,NA18947,NA18949,NA18952,NA18953,NA18961,NA18965,NA18973,NA19093,NA19102,NA19114,NA19116,NA19129,NA19172,NA19190,NA19238,NA19257 esv274450 17 47753471 47753800 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581863,essv2582616,essv2584040 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv268652 17 47768845 47768994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508314 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18561 nsv2089 17 47784703 47817990 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2180 S 9 1 0 "" NA18555 esv2639455 17 47796366 47798007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341264 S 1 0 1 "" NA18507 nsv833483 17 47830616 48007499 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453580 S 95 1 0 "" nsv908612 17 47861925 48075232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564156 S 6533 0 1 "" IS30171 nsv527898 17 47869418 48018354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704402 S 2026 0 1 "" nsv522251 17 47885327 47893566 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694149 S 2026 1 0 "" esv268856 17 47896689 47896896 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494316,essv2493159,essv2493737,essv2506271,essv2505210,essv2505817,essv2493943,essv2506426,essv2497620,essv2493842 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517,NA18523,NA18853,NA18861,NA18871,NA19108,NA19147,NA19210 nsv908613 17 47899757 48190536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527839 S 6533 0 1 "" SP81030 nsv523399 17 47902899 47906495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699150 S 2026 0 1 "" nsv528751 17 47902899 47912115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705413 S 2026 0 1 "" nsv828044 17 47919075 48095066 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421553 S 31 0 1 "" NA18969 nsv525382 17 47932943 48190536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701504 S 2026 0 1 "" nsv521099 17 47983255 48018354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688717,nssv682260 M 2026 0 2 "" dgv3231n71 17 47999299 48285168 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908615,nsv908614 M 6533 0 2 "" MS11451,MS22959 nsv509662 17 48005939 48033920 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623717,nssv619716,nssv621041,nssv618123 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv2090 17 48024502 48035145 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4275 S 9 1 0 "" NA12878 esv1007506 17 48030613 48031265 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564978 S 3 1 0 "" HuRef esv1429046 17 48030961 48030961 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692210 S 2 1 0 "" HuRef nsv510439 17 48123253 48129253 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624188,nssv618427,nssv621446 M 4 0 3 "" CHM,NA15510,NA18994 esv2148723 17 48142817 48143196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770115 S 1 0 1 "" NA18507 nsv828045 17 48285307 48290140 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434764 S 31 0 1 "" NA18570 nsv523579 17 48306578 48668858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699365 S 2026 0 1 LOC100506650 nsv908616 17 48350494 48467696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568461 S 6533 0 1 LOC100506650 IS31285 dgv989e1 17 48369345 48627779 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3303,essv4076,esv769 M 271 0 0 LOC100506650 NA18635,NA18972 nsv457834 17 48382639 48457920 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534950 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506650 HGDP01285 esv270517 17 48386180 48386265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514082,essv2518691,essv2518000,essv2517806,essv2519134,essv2513578 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12043,NA12045,NA12872,NA12878,NA19141 esv273661 17 48386180 48386265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581400 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv9571 17 48390330 48424815 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27094 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC100506650 NA18972 nsv828046 17 48390766 48424567 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433307 S 31 0 1 LOC100506650 NA18972 essv2963 17 48396906 48413228 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv2091 17 48400884 48434530 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7337 S 9 1 0 LOC100506650 NA12156 nsv908617 17 48444686 48490409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545142 S 6533 0 1 "" MS16697 nsv828047 17 48468144 48573318 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421564 S 31 0 1 "" NA18969 esv2422354 17 48493902 48661611 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161536 S 181 1 0 "" ND05370 nsv9572 17 48508969 48510731 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21581,nssv24694,nssv23530 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA12872,NA18975,NA18980 nsv519088 17 48513856 48523317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696562 S 2026 0 1 "" nsv9573 17 48567066 48568376 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26339 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv828048 17 48662124 48662675 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434765 S 31 1 0 "" NA18570 nsv457835 17 48670836 48732019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534951 S 1557 0 1 "" NINDS_94 nsv457837 17 48688258 48793944 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534952 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00226 nsv2092 17 48782357 48811692 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10127 S 9 0 1 "" NA18956 esv272836 17 48782797 48782954 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580169,essv2580338,essv2579899,essv2581022 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv268020 17 48782832 48782947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510227,essv2510118,essv2503253,essv2506786,essv2504456,essv2507971,essv2499447,essv2501688,essv2505491,essv2502904,essv2495346,essv2495909,essv2508884,essv2500346,essv2502792,essv2512511,essv2494202,essv2504147,essv2496489,essv2496297,essv2493587,essv2494715,essv2509030,essv2500463,essv2497321,essv2497776,essv2494451,essv2508664,essv2496142,essv2507518,essv2505326,essv2509360,essv2507376,essv2495505,essv2503171,essv2512319,essv2505465,essv2495940,essv2501401,essv2506670,essv2499109,essv2509518,essv2501795,essv2502043,essv2503633,essv2495767,essv2499510,essv2513116 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA10847,NA10851,NA11829,NA11881,NA11918,NA11993,NA12003,NA12044,NA12144,NA12154,NA12156,NA12287,NA12489,NA12878,NA12891,NA12892,NA18489,NA18502,NA18505,NA18510,NA18511,NA18517,NA18519,NA18522,NA18537,NA18545,NA18555,NA18572,NA18592,NA18603,NA18638,NA18853,NA18909,NA18912,NA18916,NA18943,NA18949,NA18952,NA18961,NA19093,NA19108,NA19114,NA19129,NA19239,NA19257 nsv498872 17 48797980 48802478 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585733 S 9 0 1 "" nsv524167 17 48836272 48848032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700047 S 2026 0 1 "" nsv522401 17 48866443 48873035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695183 S 2026 0 1 "" nsv908618 17 48873035 48968234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527576 S 6533 0 1 "" SP58537 nsv470591 17 48899775 48935133 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547480 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00471 dgv3232n71 17 48909861 49013767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908622,nsv908619 M 6533 0 4 "" IS31187,IS35236,MS10802,MS17114 nsv908620 17 48921066 51825310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512360 S 6533 0 1 ANKFN1,COX11,HLF,KIF2B,MIR548AJ2,MMD,PCTP,STXBP4,TMEM100,TOM1L1 SP55462 nsv908621 17 48929613 49013767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525340 S 6533 1 0 "" SP56426 nsv833484 17 48987821 49168885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453581 S 95 1 0 "" nsv521655 17 49002450 49004707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698273 S 2026 0 1 "" nsv908623 17 49004707 49083858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557090 S 6533 0 1 "" MS22353 nsv833485 17 49007306 49205759 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453582 S 95 0 1 MIR548AJ2 nsv457844 17 49047083 49129918 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534954 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00963 nsv908624 17 49048233 49195488 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525341 S 6533 1 0 MIR548AJ2 SP56426 nsv908625 17 49057059 49129918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568298 S 6533 0 1 "" IS31228 nsv819651 17 49068262 49069731 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419265 S 2 1 0 "" AK1 nsv507845 17 49090431 49096431 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623226,nssv617921 M 4 2 0 "" CHM,NA18994 esv32932 17 49172701 49173047 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100109 S 51 0 1 "" 22086 nsv2093 17 49181728 49218641 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6726,nssv4276 M 9 0 2 MIR548AJ2 NA12156,NA12878 nsv511584 17 49203807 49217027 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626212 S 1 0 1 MIR548AJ2 1 esv33384 17 49204620 49211902 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97482,essv100905,essv101031,essv95659,essv93723,essv96208,essv99959,essv93421,essv99697 M 51 0 9 MIR548AJ2 21616,21656,21693,21841,21972,22007,22086,22128,22217 esv998753 17 49206609 49215698 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563846 S 3 0 1 MIR548AJ2 HuRef nsv512495 17 49206894 49216073 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625095 S 1 0 1 MIR548AJ2 1 nsv819810 17 49207046 49214646 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419832 S 2 0 1 MIR548AJ2 AK1 nsv498873 17 49207786 49215747 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585734 S 9 0 1 MIR548AJ2 esv1111774 17 49207793 49215746 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989434 S 2 0 1 MIR548AJ2 HuRef esv22955 17 49208291 49216229 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9947,esv21288 M 451 0 11 MIR548AJ2 NA06985,NA11993,NA11995,NA12006,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878 esv1002064 17 49208550 49214575 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586174 S 3 0 1 MIR548AJ2 HuRef dgv533n67 17 49208950 49212150 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828051,nsv828049 M 31 0 4 MIR548AJ2 AK2,NA18526,NA18969,NA18973 esv1002386 17 49208950 49212150 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587027 S 3 0 1 MIR548AJ2 HuRef nsv828050 17 49208950 49217292 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424626 S 31 0 1 MIR548AJ2 NA18582 nsv514852 17 49209752 49212008 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628295 S 1414 0 1 MIR548AJ2 esv32590 17 49226591 49227308 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98663 S 51 0 1 MIR548AJ2 21606 esv26726 17 49233205 49239996 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11345 S 451 1 0 MIR548AJ2 NA19114 nsv525511 17 49250421 49252775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701644 S 2026 0 1 MIR548AJ2 nsv457845 17 49264151 49331461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534955 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548AJ2 HGDP00828 esv272037 17 49312089 49312174 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514707,essv2516937,essv2514193,essv2518722,essv2515394,essv2518517,essv2517780,essv2517350,essv2513719 M 157 9 0 Samples from several populations that are part of the HapMap project. MIR548AJ2 NA07347,NA11840,NA11931,NA12043,NA12045,NA12249,NA12287,NA12878,NA18970 esv273695 17 49312089 49312174 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581545 S 7 1 0 Samples from several populations that are part of the HapMap project. MIR548AJ2 NA12878 esv1456093 17 49312127 49312127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908272 S 2 1 0 MIR548AJ2 HuRef nsv833486 17 49380860 49574410 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453583 S 95 1 0 MIR548AJ2 nsv2094 17 49444939 49478956 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1377 S 9 1 0 MIR548AJ2 NA19240 nsv522309 17 49449022 49454833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695089 S 2026 0 1 MIR548AJ2 nsv517594 17 49452410 49454833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683379,nssv660685,nssv669377,nssv687934,nssv656570,nssv671936,nssv652463,nssv662198,nssv687291,nssv661744,nssv659896,nssv674505,nssv664030,nssv679726,nssv689020,nssv656801,nssv663241,nssv688069,nssv682905,nssv682348,nssv655587,nssv652658,nssv675792,nssv689503,nssv676053,nssv684048,nssv662926,nssv666822 M 2026 0 28 MIR548AJ2 nsv507846 17 49485323 49491323 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617922 S 4 1 0 MIR548AJ2 CHM nsv833487 17 49496217 49675287 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453586,nssv1453585,nssv1453584 M 95 3 0 MIR548AJ2 esv996796 17 49513127 49523071 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565619 S 3 0 1 MIR548AJ2 HuRef nsv435681 17 49513414 49523124 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465627 S 2 0 1 MIR548AJ2 NA15510 esv24768 17 49513698 49518065 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19166,esv19557 M 451 0 6 MIR548AJ2 NA06985,NA07045,NA15510,NA18861,NA18907,NA19147 nsv828052 17 49515380 49517663 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436574 S 31 0 1 MIR548AJ2 NA18592 esv32908 17 49515609 49525095 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98787,essv97573,essv100917,essv93742,essv96090,essv99909,essv93532,essv99569 M 51 8 0 MIR548AJ2 21606,21616,21693,21972,22007,22086,22128,22217 nsv457847 17 49554092 49650015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534956 S 1557 0 1 MIR548AJ2 1780854496_A esv1637899 17 49571251 49571433 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3789355 S 2 0 1 MIR548AJ2 HuRef esv1091163 17 49638721 49638721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043837 S 2 1 0 MIR548AJ2 HuRef esv1473795 17 49678095 49678219 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230388 S 2 0 1 MIR548AJ2 HuRef nsv833488 17 49694519 49819710 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453587 S 95 0 1 MIR548AJ2 nsv457848 17 49782907 49899520 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534957 S 1557 0 1 MIR548AJ2 1780854462_A nsv908626 17 49788671 50087685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532695 S 6533 0 1 MIR548AJ2 MS10802 esv28927 17 49844329 49849024 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15654 S 451 0 1 "" NA19129 nsv2095 17 49865014 49900406 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4277 S 9 1 0 "" NA12878 nsv2096 17 49902764 49912087 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1378 S 9 1 0 "" NA19240 nsv2097 17 49913041 49948159 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4278 S 9 1 0 "" NA12878 nsv112335 17 49918421 49918421 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130913 M 24 "" nsv457849 17 49924305 49941907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534958 S 1557 0 1 "" 1780862042_A nsv2098 17 49979148 50010749 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2181 S 9 1 0 "" NA18555 nsv507847 17 50007085 50013085 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619187,nssv617923 M 4 2 0 "" CHM,NA10860 esv2308759 17 50059986 50060408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676671 S 1 0 1 "" NA18507 nsv111680 17 50060176 50060225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130258 M 24 "" esv2615107 17 50060177 50060226 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229789 S 1 0 1 "" NA18507 esv2575964 17 50138530 50140398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272971 S 1 0 1 "" NA18507 esv2012561 17 50138685 50139711 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849957 S 1 0 1 "" NA18507 esv2870 17 50138796 50139596 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25311 S 1 0 1 Single Asian sample YH "" YH esv5462 17 50138836 50139549 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27903 S 1 0 1 "" SJK nsv112471 17 50138868 50139541 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131049 M 24 "" dgv180n21 17 50188330 50259525 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525657,nsv525424 M 2026 0 2 "" nsv908627 17 50204083 50235076 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555973 S 6533 1 0 "" MS21730 nsv457850 17 50229929 50246036 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534959 S 1557 0 1 "" 1782681169_A nsv457852 17 50246036 50280501 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534961 S 1557 0 1 "" 1780862432_A esv269577 17 50318928 50319229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505067,essv2509844,essv2500392,essv2512947 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18508,NA18537,NA18547 nsv457853 17 50343231 50415108 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534962 S 1557 0 1 COX11,STXBP4,TOM1L1 1780854128_A esv2471400 17 50351471 50352926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166872 S 1 0 1 TOM1L1 NA18507 nsv111920 17 50384915 50391090 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130498 M 24 COX11,TOM1L1 nsv522299 17 50398768 50628909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695080 S 2026 0 1 COX11,STXBP4 nsv515749 17 50415108 50455167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661016,nssv698314,nssv664671 M 2026 0 3 STXBP4 nsv833489 17 50461992 50669122 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453588 S 95 1 0 STXBP4 esv267853 17 50471061 50471420 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510600,essv2504107,essv2509825,essv2508973,essv2506051,essv2501008,essv2498555,essv2493929,essv2512094,essv2498093,essv2502216 M 157 11 0 Samples from several populations that are part of the HapMap project. STXBP4 NA18501,NA18505,NA18508,NA18522,NA18523,NA18856,NA18858,NA18871,NA19238,NA19240,NA19257 esv273017 17 50471063 50471412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580821 S 7 1 0 Samples from several populations that are part of the HapMap project. STXBP4 NA19238 esv2478056 17 50497512 50498834 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169810 S 1 0 1 STXBP4 NA18507 esv7298 17 50610561 50610651 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29739 S 1 1 0 "" SJK esv1433203 17 50617589 50617640 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213002 S 2 0 1 "" HuRef esv272030 17 50663196 50663309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508778,essv2500443,essv2497779,essv2499957,essv2506385,essv2511275,essv2500698,essv2494496,essv2512714,essv2509997,essv2501540,essv2493145,essv2500510,essv2503730,essv2495992,essv2503611 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA18532,NA18537,NA18555,NA18558,NA18566,NA18570,NA18571,NA18572,NA18577,NA18593,NA18608,NA18951,NA18956,NA18960,NA18961 nsv908628 17 50706544 50782775 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588615 S 6533 1 0 HLF IS38220 esv24830 17 50818728 50820322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15002 S 451 0 7 "" NA12287,NA12776,NA18502,NA18505,NA18861,NA19225,NA19240 nsv2100 17 50847379 51683515 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10128 S 9 0 1 ANKFN1,MMD,PCTP,TMEM100 NA18956 esv24228 17 50900953 50908609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16382 S 451 0 1 "" NA19129 nsv833490 17 50919972 50967481 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453589,nssv1453590 M 95 1 1 "" nsv2101 17 51021664 51054124 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4279 S 9 1 0 "" NA12878 nsv518015 17 51164164 51170595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695427 S 2026 0 1 TMEM100 dgv181n21 17 51165836 51166997 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521960,nsv526984 M 2026 0 2 "" esv2483218 17 51167695 51168983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286522 S 1 0 1 "" NA18507 nsv833491 17 51240195 51401294 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453591 S 95 1 0 "" nsv515953 17 51288952 51292323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677866,nssv665439,nssv682906,nssv681303 M 2026 0 4 "" esv2633207 17 51290114 51291508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362114 S 1 0 1 "" NA18507 nsv510717 17 51408269 51529074 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618949 S 4 0 1 "" NA10860 esv2194451 17 51444580 51445010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979939 S 1 0 1 "" NA18507 esv1004748 17 51444747 51444801 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568477 S 3 0 1 "" HuRef esv1045892 17 51444801 51444856 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734714 S 2 0 1 "" HuRef esv2751766 17 51503473 51522852 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989412,essv6989914 M 771 0 1 "" BEC_774 dgv990e1 17 51506859 51535723 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19354,essv9490,esv1047,essv720,essv21890,essv18792 M 271 0 0 "" NA06985,NA06991,NA12891,NA18940,NA19154 nsv908629 17 51508333 51532981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578570 S 6533 0 1 "" IS34805 dgv991e1 17 51510198 51522852 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18546,essv18456 M 271 0 0 "" NA11832,NA11993 nsv470592 17 51513281 51534561 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547481 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00640 dgv182n21 17 51513281 51537493 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528216,nsv515819 M 2026 0 120 "" esv24554 17 51515261 51527716 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15172 S 451 0 4 "" NA06985,NA11993,NA12287,NA12489 dgv371n27 17 51515464 51527276 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457855,nsv457857,nsv457856 M 1557 0 3 "" HGDP00678,HGDP00807,HGDP01163 nsv817770 17 51515464 51527276 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416199,nssv1418203,nssv1415871,nssv1418192 M 112 0 4 "" NA06985,NA06991,NA11993,NA12891 esv2421401 17 51515464 51527822 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150603,essv5134245,essv5061973,essv5081851,essv5061552,essv5026794,essv5028280,essv5121904,essv5118826,essv5137287,essv5035467,essv5079416,essv5016503,essv5065382,essv5140428,essv5014387,essv5061943,essv5018490,essv5129067,essv5029187,essv5092679,essv5140031,essv5091043,essv5125978,essv5113244,essv5013468,essv5076017,essv5072756,essv5004345,essv5037602,essv5047041,essv5069407,essv5010598,essv5013024,essv5018425,essv5084786,essv5139844,essv5131212,essv5085354,essv5140488,essv5111564,essv5121834,essv5073198,essv5080366,essv5159701,essv5092398,essv5022470,essv5117942,essv5160112,essv5106333,essv5153239,essv5052462,essv5104339,essv5117179,essv5070871,essv5078147,essv5120667,essv5031086,essv5104069,essv5110200,essv5089722 M 1184 0 61 "" NA06985,NA06991,NA07346,NA11832,NA11993,NA12273,NA12287,NA12376,NA12489,NA12718,NA12877,NA12890,NA12891,NA18871,NA19031,NA19113,NA19153,NA19154,NA19256,NA19403,NA19467,NA19675,NA19678,NA19680,NA19712,NA19725,NA19727,NA19904,NA20319,NA20335,NA20344,NA20345,NA20508,NA20509,NA20581,NA20582,NA20768,NA20772,NA20775,NA20790,NA20792,NA20799,NA20808,NA20811,NA20826,NA21300,NA21314,NA21320,NA21359,NA21360,NA21361,NA21362,NA21370,NA21476,NA21509,NA21522,NA21576,NA21583,NA21632,NA21682,NA21689 nsv514853 17 51515888 51527608 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628296 S 1414 0 1 "" nsv442422 17 51515913 51527586 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv132e55 17 51518046 51522852 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34293,esv34313,esv2751767 M 771 0 3 "" BEC_57,NA06991,NA18871 esv34781 17 51518046 51534381 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978557,essv6988015 M 771 0 1 "" NA11993 dgv992e1 17 51518243 51535723 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8259,essv8021 M 271 0 0 "" NA18871,NA19153 esv1003003 17 51520410 51522945 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564939 S 3 0 1 "" HuRef esv2530279 17 51549967 51551303 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266451 S 1 0 1 "" NA18507 nsv833493 17 51564019 51749272 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453592,nssv1453593 M 95 0 2 ANKFN1 nsv2102 17 51628052 51660332 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5663 S 9 1 0 ANKFN1 NA19129 esv2406695 17 51652965 51653441 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607743 S 1 0 1 ANKFN1 NA18507 nsv2103 17 51834885 51869439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4280 S 9 1 0 ANKFN1 NA12878 nsv833494 17 51899075 52078237 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453594 S 95 1 0 ANKFN1,NOG nsv908630 17 51923826 51966290 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558566 S 6533 1 0 "" MS23356 nsv525631 17 51943898 51951225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701784 S 2026 0 1 "" nsv523095 17 51943898 51966496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698787 S 2026 0 1 "" esv26278 17 51954491 51957593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12517 S 451 0 1 "" NA19147 nsv908631 17 52051979 52181226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558567 S 6533 1 0 "" MS23356 esv22406 17 52060086 52061159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15607 S 451 0 1 "" NA19240 nsv833495 17 52107585 52294742 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453595 S 95 0 1 C17orf67,DGKE esv32884 17 52115894 52434492 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99932 S 51 0 1 C17orf67,COIL,DGKE,MIR3614,MTVR2,SCPEP1,TRIM25 22086 esv27548 17 52145682 52150856 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16216,esv15872,esv14069 M 451 12 0 "" NA11993,NA11995,NA12414,NA12749,NA12828,NA12878,NA15510,NA18508,NA18861,NA19114,NA19147,NA19257 esv2294409 17 52169399 52169803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676841 S 1 0 1 "" NA18507 nsv2104 17 52180745 52205025 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4281 S 9 1 0 "" NA12878 nsv908632 17 52191605 52306228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577438 S 6533 0 1 C17orf67,DGKE IS34440 esv2633698 17 52242424 52242520 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165855 S 1 0 1 C17orf67 NA18507 esv1366533 17 52243984 52243984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133576 S 2 1 0 C17orf67 HuRef esv2470850 17 52302101 52303029 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288810 S 1 1 0 "" NA18507 esv269815 17 52302534 52302866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517517,essv2514170,essv2518751,essv2515523,essv2518489,essv2515151,essv2515741,essv2517960,essv2515888,essv2517840,essv2516920,essv2517256,essv2513776,essv2515207,essv2518871,essv2518197,essv2519343,essv2513665 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11918,NA12043,NA12045,NA12249,NA12287,NA12812,NA12815,NA12872,NA12873,NA12878,NA12892,NA18970,NA19143,NA19238,NA19239,NA19240 esv273897 17 52302544 52302866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581862,essv2583229,essv2583980,essv2584698,essv2583604 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1674862 17 52302582 52302582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926182 S 2 1 0 "" HuRef nsv828054 17 52304893 52307395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433309,nssv1439357 M 31 0 2 "" NA18972,NA18973 esv2638270 17 52305338 52308999 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374683 S 1 0 1 "" NA18507 nsv828055 17 52305767 52307395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438495,nssv1427914 M 31 0 2 "" AK8,NA18951 esv1004959 17 52320796 52321273 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587003 S 3 1 0 TRIM25 HuRef nsv524499 17 52326240 52331921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700441 S 2026 0 1 TRIM25 nsv2105 17 52443666 52490415 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1380 S 9 0 1 RNF126P1 NA19240 esv2485783 17 52443902 52448385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343288 S 1 0 1 "" NA18507 nsv820482 17 52444164 52448005 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419951 S 1 0 1 "" NA10851 nsv828056 17 52444164 52448005 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425384 S 31 0 1 "" AK2 nsv498874 17 52444712 52447824 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585735 S 9 0 1 "" nsv819289 17 52444724 52450647 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419743 S 2 1 0 "" AK1 nsv828057 17 52444837 52447264 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434050,nssv1430319 M 31 2 0 "" NA18526,NA18968 esv27636 17 52445032 52447654 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15541 S 451 20 2 "" NA07037,NA07045,NA11931,NA11993,NA12006,NA12239,NA12287,NA12414,NA12776,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18916,NA19114,NA19129,NA19147,NA19190 esv33941 17 52445066 53148466 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98834,essv101002,essv94048,essv101383,essv93002,essv101761,essv95860,essv92770,essv96634,essv100096,essv93213,essv99323,essv97770,essv100279,essv100364,essv98489,essv96351 M 51 0 17 AKAP1,MSI2,RNF126P1 21606,21693,21802,21805,21863,21909,21911,21944,22011,22086,22170,22275,22278,22286,22300,22352,22371 nsv514854 17 52446036 52447124 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628297 S 1414 0 1 "" esv271674 17 52453986 52454071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515989 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv5630 17 52461668 52461762 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28071 S 1 1 0 "" SJK nsv111740 17 52552211 52556883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130318 M 24 AKAP1 nsv507848 17 52561349 52567349 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623227 S 4 1 0 "" NA18994 esv25809 17 52563474 52565332 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13137,esv20238 M 451 0 5 "" NA12006,NA12414,NA12749,NA12878,NA19240 nsv511588 17 52564312 52564994 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626216 S 1 1 0 "" 1 esv1473260 17 52564994 52564994 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992731 S 2 1 0 "" HuRef esv1677907 17 52586576 52586667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818570 S 2 0 1 "" HuRef nsv519111 17 52655236 52664872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694307 S 2026 0 1 "" nsv522539 17 52657724 52659851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705917 S 2026 0 1 "" nsv2106 17 52663404 52696012 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5664 S 9 1 0 MSI2 NA19129 nsv819455 17 52689497 52689886 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418933 S 2 1 0 MSI2 AK1 esv259698 17 52816366 52818242 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399076,essv2401163,essv2399253,essv2396539,essv2400997,essv2395186 M 144 0 0 Samples from several populations that are part of the HapMap project. MSI2 NA10851,NA11931,NA18508,NA18517,NA19099,NA19108 esv2422464 17 52851727 52878314 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161506 S 181 1 0 MSI2 ND04019 nsv833496 17 52856819 53048274 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453596,nssv1453597 M 95 2 0 MSI2 nsv510718 17 52862434 52911279 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617430 S 4 0 1 MSI2 CHM esv1002111 17 52989416 53000098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564662 S 3 0 1 MSI2 HuRef esv988833 17 53037181 53046963 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564642 S 3 0 1 MSI2 HuRef nsv819762 17 53041685 53045120 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419540 S 2 1 0 MSI2 AK1 nsv512496 17 53042042 53045064 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625096 S 1 0 1 MSI2 1 esv2540858 17 53042053 53045348 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221472 S 1 0 1 MSI2 NA18507 nsv511595 17 53042488 53052802 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626224 S 1 0 1 MSI2 1 dgv70e180 17 53042759 53044835 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010997,esv1008389 M 3 1 0 MSI2 HuRef nsv828058 17 53042759 53044835 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422954,nssv1423010,nssv1433310,nssv1434051,nssv1434766,nssv1437098 M 31 1 5 MSI2 NA18526,NA18542,NA18547,NA18552,NA18570,NA18972 dgv534n67 17 53042759 53044903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828063,nsv828059,nsv828060,nsv828062 M 31 0 8 MSI2 AK10,AK14,AK6,AK8,NA18564,NA18582,NA18947,NA18973 nsv820633 17 53042759 53044903 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419952 S 1 0 1 MSI2 NA10851 esv26233 17 53042845 53044836 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15532 S 451 25 0 MSI2 NA07037,NA11894,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12878,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19147,NA19225,NA19240,NA19257 esv2477259 17 53042918 53044918 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387459 S 1 0 1 MSI2 NA18507 nsv828061 17 53042983 53044835 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421608 S 31 1 0 MSI2 NA18969 nsv828065 17 53056633 53063379 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432513 S 31 0 1 MSI2 AK20 nsv2107 17 53096769 53122168 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7338 S 9 0 1 MSI2 NA12156 dgv3233n71 17 53104232 53154992 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908636,nsv908633 M 6533 0 2 MSI2 IS37639,MS19587 dgv3234n71 17 53108826 53125857 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908634,nsv908635 M 6533 0 2 MSI2 IS35675,MS19630 esv998319 17 53129023 53130493 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587014 S 3 0 1 "" HuRef dgv993e1 17 53175939 53180824 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1287,essv21083 M 271 0 0 "" NA10854 esv23131 17 53235074 53236880 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10361 S 451 2 0 "" NA18508,NA18916 nsv819589 17 53272285 53272614 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418704 S 2 0 1 MRPS23 AK1 esv272079 17 53281186 53281529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518650,essv2515940,essv2514365,essv2513873,essv2519416 M 157 5 0 Samples from several populations that are part of the HapMap project. MRPS23 NA07346,NA12045,NA12873,NA12874,NA19143 esv1001954 17 53286258 53290033 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564342 S 3 1 0 "" HuRef nsv828066 17 53296684 53346137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432514 S 31 0 1 CUEDC1 AK20 esv272917 17 53347504 53347746 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580175,essv2580428,essv2579989,essv2578958 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv269653 17 53347574 53347787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546244,essv2529125,essv2565351,essv2540040,essv2562667,essv2569356,essv2558814,essv2539059,essv2561552,essv2566851,essv2527800,essv2539314,essv2529573,essv2575586,essv2526517,essv2560560,essv2530352,essv2568819,essv2548104,essv2545846,essv2554463,essv2525010 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA11881,NA12749,NA12812,NA18489,NA18507,NA18508,NA18516,NA18519,NA18523,NA18853,NA18907,NA18912,NA19093,NA19099,NA19114,NA19116,NA19141,NA19147,NA19210,NA19239 nsv833497 17 53361570 53540375 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453598 S 95 0 1 DYNLL2,SRSF1,VEZF1 esv2595030 17 53401311 53401983 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372670 S 1 1 0 "" NA18507 esv1175910 17 53452388 53452388 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863629 S 2 1 0 "" HuRef esv1398603 17 53506637 53506814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588437 S 2 0 1 "" HuRef esv23250 17 53523149 53523734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16433 S 451 0 1 "" NA12239 nsv908637 17 53530360 53562730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516755 S 6533 1 0 "" SP56926 nsv2108 17 53545335 53579759 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1381 S 9 1 0 "" NA19240 esv28011 17 53562575 53568434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17357 S 451 0 1 "" NA12006 esv2421680 17 53567511 53569097 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5071972,essv5044530,essv5026679,essv5095393,essv5122626,essv5068131,essv5151154,essv5132835,essv5083534,essv5038590,essv5145042,essv5149800,essv5140940,essv5010569,essv5014945,essv5095445,essv5005095,essv5020550,essv5152277,essv5037265,essv5048582,essv5133990,essv5125916,essv5069781,essv5147454,essv5058088,essv5158785,essv5013179,essv5024639,essv5106050,essv5101744,essv5053868,essv5044194 M 1184 0 33 "" NA10843,NA10852,NA10854,NA10855,NA10863,NA11831,NA11839,NA11843,NA11893,NA12006,NA12043,NA12154,NA12248,NA12273,NA12335,NA12340,NA12341,NA12890,NA19659,NA19779,NA20334,NA20509,NA20512,NA20544,NA20753,NA20760,NA20768,NA20773,NA20792,NA20810,NA20819,NA21104,NA21123 nsv442423 17 53567511 53569097 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv995666 17 53600710 53601233 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587175 S 3 0 1 "" HuRef nsv517229 17 53608586 53805523 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667567,nssv682228,nssv674773,nssv674976,nssv680169,nssv667942,nssv659500,nssv652341,nssv660831,nssv658324,nssv701447,nssv680741,nssv668727,nssv654003,nssv704365,nssv654917,nssv690266,nssv689455,nssv680965,nssv680794,nssv682131,nssv664609,nssv692802,nssv657584,nssv680291,nssv697255,nssv665168,nssv655934,nssv665838,nssv693433,nssv660434,nssv675226,nssv672622,nssv653731,nssv700838,nssv657001,nssv683646,nssv674163,nssv654995,nssv665559,nssv690239,nssv672375,nssv677729,nssv652241,nssv673340,nssv684354,nssv693743,nssv654885,nssv677489,nssv664549,nssv667284,nssv663673,nssv683280,nssv694286,nssv684594,nssv672588,nssv657075,nssv683076,nssv666077,nssv674533,nssv692892,nssv699582,nssv657495,nssv669272,nssv681595,nssv682261,nssv692916,nssv660933,nssv688551,nssv674746,nssv670957,nssv680997,nssv671372,nssv670001,nssv692000,nssv659743,nssv678298,nssv665899,nssv691451,nssv693034,nssv654755,nssv692937,nssv657661,nssv684985,nssv652172,nssv656781,nssv684099,nssv685731,nssv692376,nssv693334,nssv683780,nssv674198,nssv692685,nssv657811,nssv682323,nssv690759,nssv688522,nssv656919,nssv674410 M 2026 1 98 BZRAP1,EPX,LOC100506779,LPO,MIR142,MIR4736,MKS1,MPO,RNF43,SUPT4H1 nsv457858 17 53612983 53645333 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534966 S 1557 0 1 EPX,MKS1 1780854491_A nsv509663 17 53695801 53777713 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621042 S 4 1 0 BZRAP1,LOC100506779,LPO,MIR142,MIR4736,MPO,SUPT4H1 NA15510 nsv2109 17 53701822 53741738 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7339 S 9 0 1 BZRAP1,MPO NA12156 nsv820094 17 53722429 53733303 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418600 S 2 0 1 "" AK1 nsv908638 17 53733066 53759348 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543731 S 6533 0 1 BZRAP1,LOC100506779 MS16153 dgv3235n71 17 53733066 53772001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908639,nsv908640 M 6533 0 3 BZRAP1,LOC100506779,MIR142,MIR4736 MS10311,MS13770,MS17208 nsv457859 17 53738052 53751608 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534967 S 1557 0 1 BZRAP1 1780862081_A nsv470593 17 53743925 53760857 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547482 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BZRAP1,LOC100506779 HGDP00789 nsv457860 17 53743926 53772286 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534968 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BZRAP1,LOC100506779,MIR142,MIR4736 HGDP00527 nsv819948 17 53779583 53783721 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419607 S 2 0 1 LOC100506779,SUPT4H1 AK1 nsv908641 17 53779709 53985358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552143 S 6533 0 1 C17orf47,HSF5,LOC100506779,MTMR4,RNF43,SEPT4,SUPT4H1 MS19226 dgv994e1 17 53997375 54149948 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15849,essv19984,esv420,essv4795,essv23494 M 271 0 0 RAD51C,TEX14 NA07034,NA07048,NA18620,NA19223 nsv428347 17 53997375 54149948 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453523 S 62 1 0 RAD51C,TEX14 HGDP00984 nsv908642 17 53999815 54154343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550534,nssv1563520 M 6533 0 2 RAD51C,TEX14 MS18451,MS26073 nsv457863 17 54063018 54064116 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534970 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TEX14 HGDP01028 nsv515871 17 54063018 54064116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669356,nssv698322,nssv693495,nssv672897,nssv665096,nssv687693,nssv670312,nssv661384,nssv686353,nssv655966,nssv657965,nssv663522 M 2026 0 12 TEX14 nsv833498 17 54084423 54247391 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453599 S 95 0 1 PPM1E,RAD51C,TEX14 dgv3236n71 17 54158027 54603792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908645,nsv908643 M 6533 0 2 MIR301A,MIR454,PPM1E,PRR11,RAD51C,SKA2,TRIM37 IS38065,MS15364 nsv908644 17 54158027 54726214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598847 S 6533 0 1 GDPD1,MIR301A,MIR454,PPM1E,PRR11,RAD51C,SKA2,SMG8,TRIM37 IS40819 esv991006 17 54158817 54158970 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583244 S 3 0 1 RAD51C HuRef esv1778308 17 54158849 54159003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654632 S 2 0 1 RAD51C HuRef esv1008894 17 54390032 54399092 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565013 S 3 0 1 PPM1E HuRef nsv510719 17 54394135 54459211 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622722 S 4 0 1 PPM1E,TRIM37 NA18994 nsv828067 17 54412066 54413021 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432515 S 31 0 1 PPM1E AK20 nsv908646 17 54416020 54610592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594616 S 6533 0 1 MIR301A,MIR454,PPM1E,PRR11,SKA2,TRIM37 IS39944 nsv833499 17 54425475 54643192 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453600 S 95 0 1 MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37 dgv995e1 17 54437361 54780416 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv16,essv10043 M 271 0 0 GDPD1,MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37,YPEL2 NA19099 nsv9574 17 54464205 54473521 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23190 S 31 0 1 Samples from several populations that are part of the HapMap project. TRIM37 NA18942 nsv828068 17 54464557 54473048 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435486 S 31 0 1 TRIM37 NA18942 nsv514855 17 54464856 54472760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628298 S 1414 0 1 TRIM37 esv2421884 17 54465109 54472903 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003143,essv5052309,essv5159527,essv5104370,essv5054304,essv5046430,essv5085162,essv5108415,essv5089007,essv5052336,essv5075378,essv5099448,essv5143056,essv5050853,essv5149605,essv5112231,essv5158372,essv5129529,essv5046185,essv5037345,essv5042538 M 1184 0 21 TRIM37 NA18942,NA18943,NA18955,NA18956,NA18957,NA18959,NA18974,NA18994,NA19002,NA19054,NA19059,NA19060,NA19079,NA19081,NA19088,NA19373,NA19374,NA20519,NA21371,NA21439,NA21447 nsv507849 17 54484911 54490911 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617924,nssv623228,nssv620616 M 4 3 0 TRIM37 CHM,NA15510,NA18994 dgv3237n71 17 54519879 54677736 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908647,nsv908648 M 6533 0 2 GDPD1,MIR301A,MIR454,PRR11,SKA2,SMG8,TRIM37 IS31765,IS36170 nsv828069 17 54538258 54539269 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432516 S 31 0 1 TRIM37 AK20 esv990139 17 54565741 54573778 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564100 S 3 0 1 MIR454,SKA2 HuRef esv28194 17 54587338 54587862 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9853 S 451 0 1 PRR11,SKA2 NA12239 esv25721 17 54605994 54620048 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17783 S 451 1 0 PRR11 NA19099 nsv833500 17 54643700 54877132 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453602,nssv1453601 M 95 0 2 GDPD1,MIR4729,SMG8,YPEL2 nsv908649 17 54645983 54896409 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551443 S 6533 1 0 GDPD1,MIR4729,SMG8,YPEL2 MS18876 nsv908650 17 54656790 54683688 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505069 S 6533 0 1 GDPD1 SP53041 nsv828070 17 54683553 54687559 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434053 S 31 0 1 GDPD1 NA18526 nsv9575 17 54718493 54720971 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26035,nssv24788,nssv21679,nssv24075,nssv27104 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA12155,NA18537,NA18563,NA18572,NA18972 esv996016 17 54719033 54720294 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586886 S 3 1 0 "" HuRef nsv828071 17 54719033 54720294 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422243,nssv1428710,nssv1438497,nssv1433311,nssv1437824,nssv1440024,nssv1432517,nssv1426198,nssv1424628,nssv1431709,nssv1425387,nssv1439359,nssv1434054,nssv1434767,nssv1430878 M 31 0 15 "" AK10,AK18,AK2,AK20,AK4,NA18526,NA18537,NA18570,NA18582,NA18947,NA18949,NA18951,NA18972,NA18973,NA18997 esv33206 17 54719438 54719842 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94726,essv101415,essv97900,essv93173,essv94594,essv92721,essv96114,essv94906,essv96500,essv97710,essv100485 M 51 11 0 "" 21791,21805,21837,21863,21932,21944,22007,22231,22261,22278,22298 esv7723 17 54808790 54808882 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30164 S 1 1 0 YPEL2 SJK nsv527058 17 54811074 54820686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703435 S 2026 0 1 YPEL2 esv2500158 17 54983567 54984129 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261624 S 1 1 0 "" NA18507 esv259946 17 54984699 54985018 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394989,essv2397930,essv2394857,essv2398014,essv2397255 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18907,NA19114,NA19147,NA19225 nsv833501 17 55060069 55211936 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453603 S 95 0 1 CLTC,PTRH2,VMP1 esv32651 17 55129820 55133214 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100739 S 51 0 1 PTRH2 21656 nsv908651 17 55200406 55252391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514723 S 6533 0 1 VMP1 SP56047 dgv3238n71 17 55209565 55249807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908653,nsv908652 M 6533 0 2 VMP1 SP53041,SP54579 esv2483856 17 55224535 55226798 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364889 S 1 0 1 VMP1 NA18507 nsv512497 17 55224844 55225969 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625097 S 1 0 1 VMP1 1 esv998658 17 55225269 55225818 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587269 S 3 1 0 VMP1 HuRef nsv821151 17 55225269 55225818 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419953 S 1 0 1 VMP1 NA10851 nsv828072 17 55225269 55225818 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430330,nssv1424630,nssv1423011,nssv1432519,nssv1437825,nssv1423831,nssv1422244,nssv1430890 M 31 7 1 VMP1 AK20,NA18552,NA18582,NA18947,NA18949,NA18968,NA18997,NA18999 nsv471702 17 55328115 55513938 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550671,nssv550670 M 48 2 0 HEATR6,MIR4737,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1 NA10470,NA10471 nsv833502 17 55328115 55513938 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453605,nssv1453604 M 95 2 0 HEATR6,MIR4737,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1 dgv996e1 17 55350429 55513944 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8877,essv10473,essv10321,essv10563,essv565,essv16934,essv1742,essv16131,essv10257,essv16275,essv15777,essv15110,essv11118,essv14454,essv14579,essv9383,esv103,essv9937,essv11209,essv13916,essv11684,essv12994,essv14050,essv9769,essv12394,essv22380,essv11966,essv9175,essv9080,essv5480,essv16728,essv1139 M 271 0 0 HEATR6,MIR4737,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1 NA12875,NA18506,NA18508,NA18515,NA18517,NA18632,NA18853,NA18854,NA18859,NA18861,NA18863,NA18964,NA18997,NA18998,NA19100,NA19128,NA19129,NA19131,NA19132,NA19142,NA19144,NA19145,NA19152,NA19154,NA19161,NA19201,NA19202,NA19204,NA19211,NA19238,NA19240 nsv428348 17 55350429 55513944 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453529,nssv453524,nssv453525,nssv453528,nssv453527,nssv453530,nssv453526 M 62 7 0 HEATR6,MIR4737,RNFT1,RPS6KB1,TBC1D3P1-DHX40P1 HGDP01087,HGDP01088,NA18498,NA19096,NA19113,NA19189,NA19257 nsv471544 17 55354088 55388002 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547964,nssv547962,nssv547963 M 3 RNFT1,RPS6KB1 nsv9576 17 55368278 55374573 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26356,nssv25557,nssv27180,nssv23653,nssv27172,nssv27473,nssv23967,nssv28327 M 31 7 1 Samples from several populations that are part of the HapMap project. RPS6KB1 NA10863,NA18502,NA18517,NA18853,NA18860,NA19144,NA19221,NA19240 esv24411 17 55369513 55375672 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10642 S 451 2 0 RPS6KB1 NA18861,NA19240 nsv9577 17 55383216 55385299 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27114 S 31 1 0 Samples from several populations that are part of the HapMap project. RNFT1 NA18972 nsv7295 17 55431923 55583777 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5666,nssv5665 M 9 0 0 CA4,HEATR6,LOC645638,LOC653653,MIR4737,TBC1D3P1-DHX40P1 NA19129 nsv9578 17 55434445 55466391 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24720,nssv27134,nssv27481,nssv27190,nssv28329,nssv26372,nssv27192,nssv24051,nssv25580,nssv23711,nssv23454,nssv24024,nssv27489,nssv26417,nssv27182,nssv26985,nssv27124,nssv26055 M 31 8 5 Samples from several populations that are part of the HapMap project. TBC1D3P1-DHX40P1 NA07029,NA10863,NA12155,NA18502,NA18517,NA18853,NA18860,NA18972,NA18980,NA19132,NA19144,NA19221,NA19240 esv28791 17 55434684 55460046 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12643 S 451 18 1 TBC1D3P1-DHX40P1 NA11993,NA12156,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv499622 17 55467159 55543152 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585525 S 9 0 0 HEATR6,LOC645638,LOC653653,MIR4737 esv2653138 17 55474090 55475609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345710 S 1 0 1 HEATR6,MIR4737 NA18507 esv2017815 17 55474420 55475013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821595 S 1 0 1 "" NA18507 esv26907 17 55474446 55475271 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17144 S 451 0 1 MIR4737 NA12044 nsv833504 17 55503143 55709933 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453606 S 95 1 0 CA4,HEATR6,LOC645638,LOC653653,SCARNA20,USP32 nsv9579 17 55513299 55591671 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27005,nssv24078,nssv27497,nssv26074,nssv26447,nssv27200,nssv26995,nssv25603,nssv27202,nssv27174,nssv26432 M 31 8 1 Samples from several populations that are part of the HapMap project. CA4,LOC645638,LOC653653 NA12155,NA18502,NA18517,NA18853,NA18860,NA18972,NA19132,NA19144,NA19240 esv23747 17 55527349 55559551 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20472,esv19626 M 451 16 0 LOC653653 NA11993,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv828073 17 55531008 55559354 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423832 S 31 1 0 LOC653653 NA18999 nsv828074 17 55538120 55542910 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433312 S 31 1 0 "" NA18972 esv1298311 17 55552838 55556395 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359053 S 2 0 0 "" HuRef nsv527094 17 55560921 55595546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703473 S 2026 0 1 CA4 nsv519766 17 55580548 55595546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697038 S 2026 0 1 CA4 nsv528050 17 55581582 55595546 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704583 S 2026 1 0 CA4 esv2280900 17 55606034 55606859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568220 S 1 0 1 "" NA18507 esv2554487 17 55606213 55606686 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232430 S 1 0 1 "" NA18507 dgv3239n71 17 55680650 55789734 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908656,nsv908655,nsv908654 M 6533 0 3 USP32 IS30925,IS41317,MS15704 nsv9581 17 55687363 55828979 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21709,nssv23739,nssv27184,nssv24746 M 31 0 4 Samples from several populations that are part of the HapMap project. USP32 NA10863,NA18572,NA18972,NA18980 nsv507850 17 55691613 55697613 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617925,nssv620617,nssv619188,nssv623229 M 4 4 0 USP32 CHM,NA10860,NA15510,NA18994 dgv3240n71 17 55725979 55848986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908657,nsv908658 M 6533 0 2 USP32 IS37226,IS38650 nsv519929 17 55743561 55863400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697132 S 2026 0 1 C17orf64,USP32 dgv535n67 17 55764839 55768701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828077,nsv828076 M 31 4 0 USP32 AK20,NA18537,NA18949,NA18999 esv2438168 17 55766044 55769335 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220247 S 1 0 1 USP32 NA18507 esv22599 17 55766887 55768922 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15649,esv16125 M 451 23 3 USP32 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18861,NA19099,NA19147,NA19190,NA19240,NA19257 nsv820574 17 55766887 55768922 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419954 S 1 0 1 USP32 NA10851 nsv828078 17 55766887 55768922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440713,nssv1433313,nssv1437827,nssv1426199,nssv1425388,nssv1432521 M 31 0 6 USP32 AK2,AK20,AK4,NA18564,NA18949,NA18972 nsv828079 17 55767290 55768701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430981,nssv1429466,nssv1427917,nssv1427125,nssv1439360 M 31 0 5 USP32 AK12,AK16,AK6,AK8,NA18973 esv2478804 17 55800625 55802086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259316 S 1 0 1 USP32 NA18507 esv2085161 17 55800945 55801625 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915317 S 1 0 1 USP32 NA18507 esv24610 17 55806826 55814355 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19162 S 451 3 5 USP32 NA07037,NA12156,NA12414,NA12878,NA18508,NA18916,NA19240,NA19257 nsv820735 17 55806826 55814355 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419955 S 1 1 0 USP32 NA10851 nsv521420 17 55855046 55863400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698030 S 2026 0 1 C17orf64 esv1010187 17 55884276 55887873 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564756 S 3 1 0 APPBP2 HuRef esv29677 17 55934524 55936075 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14499 S 451 0 1 APPBP2 NA19257 nsv828080 17 55957960 55958459 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432522 S 31 0 1 APPBP2 AK20 esv2054419 17 55980468 55980816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893689 S 1 0 1 "" NA18507 nsv821556 17 56009052 56010102 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419956 S 1 1 0 "" NA10851 esv22287 17 56009052 56011085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10048,esv10605 M 451 0 5 "" NA18523,NA18858,NA18907,NA18909,NA19129 esv33904 17 56235759 56239609 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94772 S 51 0 1 BCAS3 21791 nsv908659 17 56309866 56581400 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598189 S 6533 0 1 BCAS3 IS41317 nsv908660 17 56345807 56436171 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546319 S 6533 0 1 BCAS3 MS17130 esv2581647 17 56347365 56348340 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374627 S 1 1 0 BCAS3 NA18507 nsv908661 17 56378596 56445773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564529 S 6533 0 1 BCAS3 IS30228 nsv428349 17 56414621 56674984 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453532 S 62 0 1 BCAS3 HGDP01094 esv27670 17 56473709 56483520 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19627 S 451 0 1 BCAS3 NA11894 nsv908662 17 56491859 56610013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529572 S 6533 0 1 BCAS3 MS10060 nsv2111 17 56620289 56650196 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7340 S 9 0 1 BCAS3 NA12156 dgv43n68 17 56678248 56917766 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833506,nsv833505 M 95 0 2 BCAS3,C17orf82,TBX2,TBX4 esv991598 17 56723103 56741296 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565574 S 3 0 0 BCAS3 HuRef nsv2112 17 56735868 56747819 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2971 S 9 1 0 BCAS3 NA18555 nsv518130 17 56811371 56846063 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695548 S 2026 1 0 BCAS3,C17orf82,TBX2 nsv908663 17 56818851 56876092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586024 S 6533 0 1 BCAS3,C17orf82,TBX2 IS37646 dgv3241n71 17 56820479 56849356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908668,nsv908667,nsv908670,nsv908665,nsv908666,nsv908664,nsv908669 M 6533 0 11 BCAS3,C17orf82,TBX2 SP54002,SP54042,SP54043,SP54225,SP54591,SP54672,SP54684,SP54782,SP54956,SP54967,SP55021 dgv3242n71 17 56830670 56849356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908672,nsv908671 M 6533 0 2 C17orf82,TBX2 SP54725,SP54988 dgv536n67 17 56841528 56842008 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828083,nsv828082,nsv828081 M 31 3 0 TBX2 AK2,AK6,NA18969 nsv519931 17 56846063 56869243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697133 S 2026 0 1 "" nsv523855 17 56851020 56871616 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699690 S 2026 1 0 "" nsv828084 17 56860359 56886468 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421630 S 31 1 0 "" NA18969 nsv516957 17 56869243 56871616 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653334,nssv685486,nssv666671,nssv667943,nssv669151,nssv653503,nssv682262,nssv688552,nssv654694,nssv669556,nssv681892,nssv651816,nssv652243,nssv658381,nssv688334,nssv661145 M 2026 14 2 "" nsv2113 17 56890726 56922767 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6727 S 9 1 0 TBX4 NA12156 nsv457864 17 56966823 57001546 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534971 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00580 esv2276638 17 57044241 57044696 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499509 S 1 0 1 "" NA18507 nsv908673 17 57122283 57281427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579337 S 6533 0 1 BRIP1 IS35083 esv259676 17 57148826 57149083 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399979,essv2399394,essv2396690,essv2399171,essv2397710,essv2397815,essv2396580,essv2394953,essv2396309,essv2395500,essv2395068,essv2399430,essv2395329,essv2396207,essv2395867,essv2398344,essv2399797,essv2396443,essv2394481 M 144 0 0 Samples from several populations that are part of the HapMap project. BRIP1 NA12156,NA12287,NA12750,NA12776,NA18502,NA18505,NA18507,NA18545,NA18558,NA18563,NA18571,NA18858,NA18916,NA18944,NA18945,NA19093,NA19129,NA19138,NA19257 esv7670 17 57148978 57149068 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30111 S 1 1 0 BRIP1 SJK esv9358 17 57149428 57149482 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31799 S 1 1 0 BRIP1 SJK nsv908674 17 57155609 57254572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513095 S 6533 0 1 BRIP1 SP55683 esv2489612 17 57178726 57180291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184908 S 1 0 1 BRIP1 NA18507 nsv908675 17 57190646 57292068 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587270 S 6533 0 1 BRIP1 IS37999 esv2576756 17 57271197 57272622 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233742 S 1 0 1 BRIP1 NA18507 esv269932 17 57340921 57341271 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514141,essv2515579 M 157 2 0 Samples from several populations that are part of the HapMap project. INTS2 NA12043,NA12815 nsv112179 17 57440180 57440460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130757 M 24 MED13 nsv833507 17 57529441 57724323 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453609 S 95 0 1 TBC1D3P2 nsv469887 17 57531461 57736681 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649908 M 265 5 1 Samples from several populations that are part of the HapMap project. TBC1D3P2 nsv527199 17 57532286 57536565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703598 S 2026 0 1 "" nsv518016 17 57627080 57675035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695428 S 2026 0 1 "" nsv516367 17 57629843 57652778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684147,nssv667793 M 2026 0 2 "" nsv833508 17 57649463 57842003 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453611,nssv1453612,nssv1453610 M 95 2 1 EFCAB3,TBC1D3P2 dgv997e1 17 57650339 57826573 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21249,essv8821,essv1867,essv10461,essv5481,essv1753,essv9190,essv2438,essv13131,essv12382,essv17230,essv7125,essv9878,essv15135,essv8246,essv14270,essv12777,essv10569,essv3087,essv8635,essv12600,essv16684,essv11016,essv584,essv9094,essv11268,essv7525,essv14428,essv10231,essv17050,essv12703,essv15773,essv16988,esv349,essv16513,essv9364,essv13922,essv8337,essv12989,essv11135,essv9131,essv16128,essv15338,essv18126,essv9832,essv10731,essv15639,essv9695,essv17170,essv13555,essv2026,essv16302,essv14493,essv21859,essv11915,essv11664,essv1140,essv15815,essv15504,essv14127,essv10313 M 271 0 0 EFCAB3,TBC1D3P2 NA10855,NA11839,NA11993,NA18502,NA18503,NA18505,NA18506,NA18508,NA18515,NA18523,NA18537,NA18545,NA18632,NA18853,NA18854,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18912,NA18913,NA18914,NA18949,NA18964,NA18969,NA18976,NA18997,NA18998,NA18999,NA19098,NA19100,NA19102,NA19116,NA19120,NA19128,NA19129,NA19131,NA19132,NA19142,NA19143,NA19144,NA19145,NA19152,NA19154,NA19160,NA19161,NA19171,NA19172,NA19194,NA19201,NA19202,NA19204,NA19210,NA19211,NA19223,NA19238,NA19239,NA19240 nsv428350 17 57650339 57826573 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453533,nssv453539,nssv453543,nssv453536,nssv453540,nssv453541,nssv453535,nssv453538,nssv453537,nssv453534 M 62 10 0 EFCAB3,TBC1D3P2 HGDP00462,HGDP00463,HGDP00986,HGDP01087,HGDP01088,NA19096,NA19108,NA19113,NA19189,NA19257 esv27452 17 57650372 57712051 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14532,esv15770,esv19625,esv18994 M 451 22 2 TBC1D3P2 NA11894,NA11931,NA11993,NA12156,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9582 17 57652052 57668349 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27045,nssv26461,nssv23766,nssv27212,nssv28331,nssv24105,nssv25626,nssv27535,nssv27210 M 31 8 1 Samples from several populations that are part of the HapMap project. "" NA10863,NA18502,NA18517,NA18853,NA18860,NA19132,NA19144,NA19221,NA19240 nsv820413 17 57652770 57667629 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419957 S 1 1 0 "" NA10851 nsv523527 17 57652778 57675035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699301 S 2026 0 1 "" nsv9583 17 57679509 57712918 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25335,nssv26534,nssv27222,nssv26475,nssv27220,nssv24813,nssv24131,nssv27543,nssv28363,nssv27055,nssv23793,nssv25649,nssv23218,nssv24771 M 31 13 1 Samples from several populations that are part of the HapMap project. TBC1D3P2 NA10863,NA18502,NA18504,NA18517,NA18537,NA18853,NA18860,NA18942,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 dgv3243n71 17 57703107 57818893 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908676,nsv908678 M 6533 2 0 EFCAB3,TBC1D3P2 IS34709,IS39233 nsv908677 17 57703107 57858045 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579137 S 6533 1 0 EFCAB3,METTL2A,TBC1D3P2 IS35018 nsv908679 17 57721635 57777988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582379 S 6533 0 1 "" IS35911 esv273684 17 57731511 57731769 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580744,essv2579649 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269621 17 57731529 57731799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565571,essv2575826,essv2546421,essv2521136,essv2542560,essv2556531,essv2568133,essv2523355,essv2548460,essv2521891,essv2550708,essv2554080,essv2547283,essv2529404,essv2558614,essv2577784,essv2553816,essv2557393,essv2557245,essv2551923,essv2532311,essv2527330,essv2561553,essv2567556,essv2563754,essv2535659,essv2566751,essv2551182,essv2568896,essv2562277,essv2534145,essv2529448,essv2524085,essv2568495,essv2560386,essv2549900,essv2545826,essv2551581,essv2535916,essv2549104,essv2547979,essv2563182 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA10847,NA11829,NA11830,NA11881,NA11894,NA11919,NA11994,NA11995,NA12004,NA12045,NA12144,NA12155,NA12287,NA12717,NA12749,NA12750,NA12761,NA12763,NA18499,NA18501,NA18504,NA18505,NA18522,NA18523,NA18582,NA18603,NA18608,NA18853,NA18858,NA18861,NA18909,NA18916,NA19093,NA19129,NA19147,NA19190,NA19225,NA19239,NA19257 esv2559894 17 57741122 57742618 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220606 S 1 0 1 "" NA18507 nsv507851 17 57771193 57777193 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620618,nssv623230 M 4 2 0 "" NA15510,NA18994 nsv9584 17 57773553 57781313 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25012 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv513478 17 57773667 57774078 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625883 S 1 1 0 "" 1 esv268831 17 57787720 57788102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511207,essv2511793,essv2494274,essv2509943,essv2496496,essv2501182,essv2493734,essv2494779,essv2494943,essv2505989,essv2497291,essv2505220,essv2498544,essv2507058,essv2494084,essv2513384,essv2509203,essv2511083,essv2495127,essv2504693,essv2506413,essv2499134,essv2510905,essv2509462,essv2498936,essv2497721,essv2499806,essv2512149,essv2498173,essv2502215 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA18499,NA18502,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18523,NA18545,NA18853,NA18858,NA18870,NA18871,NA18907,NA18909,NA18944,NA18964,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19147,NA19225,NA19238,NA19240,NA19257 esv273391 17 57787729 57788090 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579095 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271279 17 57822248 57822392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510174,essv2495323,essv2493370,essv2494304,essv2504180,essv2502952,essv2493739,essv2506118,essv2495583,essv2503087,essv2497844,essv2512304,essv2493125,essv2502750,essv2506698,essv2499617 M 157 16 0 Samples from several populations that are part of the HapMap project. EFCAB3 NA10851,NA12287,NA12776,NA18502,NA18505,NA18507,NA18517,NA18523,NA18916,NA18943,NA18945,NA18949,NA18951,NA18965,NA19108,NA19225 esv1421317 17 57999778 58000250 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960708 S 2 0 0 TLK2 HuRef nsv516636 17 58005113 58015954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662833,nssv660104,nssv669771 M 2026 0 3 TLK2 nsv509664 17 58036062 58130415 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623718 S 4 1 0 MRC2,TLK2 NA18994 nsv2114 17 58040493 58057661 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7342 S 9 1 0 TLK2 NA12156 nsv908680 17 58045912 58140225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543732 S 6533 0 1 MARCH10,MRC2,TLK2 MS16153 nsv470595 17 58062309 58123535 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547483 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MRC2 HGDP00546 nsv516921 17 58094696 58200390 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701074,nssv663321,nssv705808,nssv654996,nssv699915,nssv705122,nssv679222,nssv676233,nssv697792 M 2026 1 8 MARCH10,MIR548W,MRC2 nsv2115 17 58123904 58157946 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4282 S 9 1 0 MARCH10,MIR548W,MRC2 NA12878 nsv509665 17 58153952 58237142 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621043 S 4 1 0 MARCH10,MIR548W NA15510 esv26867 17 58204811 58205551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10450 S 451 0 1 MARCH10,MIR548W NA18505 esv2804 17 58288039 58288268 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25245 S 1 0 1 Single Asian sample YH MIR548W YH esv996048 17 58299314 58299947 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586830 S 3 0 1 MIR548W HuRef nsv528785 17 58308456 58323238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705452 S 2026 0 1 MIR548W nsv908681 17 58362494 58638930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597910 S 6533 0 1 MIR548W,TANC2 IS41113 nsv457865 17 58369941 58467725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534972 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548W,TANC2 HGDP00719 nsv526533 17 58405003 58414333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702846 S 2026 1 0 MIR548W nsv526079 17 58405003 58440805 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702323 S 2026 1 0 MIR548W,TANC2 nsv523102 17 58409122 58426356 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698795 S 2026 1 0 MIR548W nsv457866 17 58409122 58498812 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534973 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548W,TANC2 HGDP01330 nsv457867 17 58440805 58586210 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534974 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548W,TANC2 HGDP00647 nsv2116 17 58480953 58513480 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10129 S 9 1 0 MIR548W,TANC2 NA18956 nsv112050 17 58526108 58526108 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130628 M 24 MIR548W,TANC2 esv27080 17 58535919 58541738 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17295 S 451 0 2 MIR548W,TANC2 NA18907,NA19225 nsv833509 17 58580927 58798390 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453613,nssv1453615,nssv1453614 M 95 1 2 MIR548W,TANC2 nsv908682 17 58850203 58931780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543733 S 6533 0 1 ACE,CYB561,TANC2 MS16153 esv23801 17 58895978 58900415 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14418 S 451 0 1 "" NA19257 nsv908683 17 58902680 58983808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549929 S 6533 0 1 ACE,DCAF7,KCNH6 MS18276 nsv525599 17 58911961 58913655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701742 S 2026 0 1 ACE esv270563 17 58919605 58919934 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516778,essv2517449,essv2515019,essv2516364,essv2515646,essv2514402,essv2517608,essv2518972,essv2513858 M 157 9 0 Samples from several populations that are part of the HapMap project. ACE NA11881,NA11918,NA12812,NA12814,NA12815,NA12874,NA12878,NA19141,NA19143 esv273813 17 58919605 58919934 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581477 S 7 1 0 Samples from several populations that are part of the HapMap project. ACE NA12878 nsv817771 17 58919763 58927493 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417318 S 112 0 1 ACE NA18608 esv2364883 17 58932194 58932663 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519393 S 1 0 1 "" NA18507 nsv507852 17 58975524 58981524 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617926,nssv623231,nssv619189,nssv620619 M 4 4 0 KCNH6 CHM,NA10860,NA15510,NA18994 esv2510594 17 59084747 59085768 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341670 S 1 1 0 MAP3K3 NA18507 esv271856 17 59085386 59085471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514677,essv2518665,essv2515136,essv2519349 M 157 4 0 Samples from several populations that are part of the HapMap project. MAP3K3 NA07346,NA11840,NA12045,NA12812 nsv819101 17 59128650 59128917 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419559 S 2 1 0 LIMD2 AK1 esv2266185 17 59178894 59179347 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848070 S 1 0 1 CCDC47 NA18507 nsv833510 17 59198385 59358882 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453616 S 95 0 1 CCDC47,CSH1,CSH2,CSHL1,DDX42,FTSJ3,GH1,GH2,PSMC5,SMARCD2,TCAM1P nsv510720 17 59240443 59339872 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617431 S 4 0 1 CSH1,CSH2,DDX42,FTSJ3,GH2,PSMC5,SMARCD2,TCAM1P CHM nsv517272 17 59245399 59451224 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660158,nssv659422,nssv657138,nssv699804,nssv667944,nssv688483,nssv690286,nssv686445,nssv701764,nssv659744,nssv659897,nssv654177 M 2026 1 11 C17orf72,CD79B,CSH1,CSH2,CSHL1,DDX42,FTSJ3,GH1,GH2,ICAM2,PSMC5,SCN4A,SMARCD2,TCAM1P nsv833511 17 59297087 59495397 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453617 S 95 0 1 C17orf72,CD79B,CSH1,CSH2,CSHL1,ERN1,GH1,GH2,ICAM2,SCN4A nsv436234 17 59302511 59323244 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465628 S 2 0 1 Samples from several populations that are part of the HapMap project. CSH2,GH2 NA18505 esv26789 17 59305965 59314917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16772 S 451 0 1 GH2 NA19114 nsv111804 17 59307651 59315399 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130382 M 24 GH2 esv24237 17 59346697 59353650 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18266 S 451 0 1 GH1 NA12749 nsv908684 17 59359739 59451224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538719 S 6533 0 1 C17orf72,CD79B,ICAM2,SCN4A MS13770 nsv820272 17 59370109 59370368 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419503 S 2 0 1 SCN4A AK1 nsv470596 17 59372505 59414450 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547484 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCN4A HGDP00661 esv999259 17 59392575 59393042 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586844 S 3 0 1 SCN4A HuRef nsv908685 17 59397940 59451224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573937 S 6533 0 1 C17orf72,ICAM2,SCN4A IS33504 nsv2117 17 59562946 59607330 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4641 S 9 0 1 SNORA76,SNORD104,TEX2 NA19129 esv2440294 17 59566301 59568327 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245240 S 1 0 1 "" NA18507 nsv512498 17 59566559 59568200 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625098 S 1 0 1 "" 1 nsv833512 17 59641842 59823300 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453618,nssv1453619 M 95 1 1 PECAM1,TEX2 nsv524852 17 59646131 59760871 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700854 S 2026 1 0 PECAM1,TEX2 nsv833513 17 59666458 59823300 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453620 S 95 0 1 PECAM1,TEX2 nsv509666 17 59685547 59823323 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623719 S 4 1 0 PECAM1,TEX2 NA18994 nsv511058 17 59685547 59823323 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621641 S 4 0 0 PECAM1,TEX2 NA15510 nsv112578 17 59725660 59729432 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131156 M 24 "" nsv2118 17 59771722 59807138 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4284,nssv2182 M 9 2 0 PECAM1 NA12878,NA18555 esv990152 17 59795514 59798749 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564203 S 3 1 0 PECAM1 HuRef nsv507853 17 59795793 59801793 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617927,nssv619190 M 4 2 0 PECAM1 CHM,NA10860 esv1046865 17 59798505 59798505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043801 S 2 1 0 PECAM1 HuRef nsv2119 17 59811608 59824314 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7343 S 9 1 0 PECAM1 NA12156 esv2530971 17 59848478 59849426 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329722 S 1 1 0 "" NA18507 esv1603932 17 59848968 59848968 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686563 S 2 1 0 "" HuRef nsv2120 17 59880975 59892495 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5667 S 9 1 0 MILR1 NA19129 nsv819879 17 59935006 59935235 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419337 S 2 1 0 CEP95 AK1 nsv828085 17 59953733 59954572 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421642 S 31 0 1 CEP95 NA18969 nsv908686 17 59988076 60332741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592726 S 6533 1 0 LOC146880,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P,SMURF2 IS39243 nsv908687 17 59993923 60037778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514724 S 6533 0 1 SMURF2 SP56047 nsv2122 17 60133617 60167687 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7344 S 9 1 0 "" NA12156 dgv44n68 17 60152895 60327536 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833515,nsv833516 M 95 0 20 LOC146880,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P nsv469875 17 60168350 60371564 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649896 M 265 0 39 Samples from several populations that are part of the HapMap project. LOC146880,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P nsv112551 17 60194606 60194656 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131129 M 24 LOC146880 nsv828087 17 60201918 60208461 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422966 S 31 1 0 LOC146880 NA18547 nsv471504 17 60211001 60346727 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547855,nssv547854,nssv547857 M 3 LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P dgv45n68 17 60217926 60412922 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833517,nsv833518 M 95 0 15 AMZ2P1,LRRC37A3,MIR4315-1,MIR4315-2,PLEKHM1P esv24547 17 60263746 60361500 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16891,esv16458,esv11378,esv14894,esv12111 M 451 23 0 LRRC37A3,PLEKHM1P NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA19190,NA19225,NA19240,NA19257 nsv9585 17 60268357 60360602 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25037,nssv24383,nssv23246,nssv25671,nssv21215,nssv26489,nssv24796,nssv23274,nssv21739,nssv24838,nssv27230,nssv23586,nssv24316,nssv23558,nssv24102,nssv26093,nssv21611,nssv28365,nssv24366 M 31 13 6 Samples from several populations that are part of the HapMap project. LRRC37A3 NA10839,NA10847,NA11830,NA12155,NA12872,NA18502,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18975,NA18980,NA19144,NA19221,NA19240 nsv908688 17 60336899 60401077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599445 S 6533 0 1 AMZ2P1,LRRC37A3 IS41634 esv33086 17 60347959 60348782 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101190,essv93847,essv101046,essv95106,essv94842,essv93172,essv101758,essv96206,essv93516,essv96560,essv99319,essv97621,essv100569 M 51 13 0 "" 21618,21634,21693,21721,21791,21863,21909,22007,22128,22261,22275,22278,22298 nsv908689 17 60368201 60416824 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509182 S 6533 1 0 AMZ2P1 SP54760 nsv528780 17 60428485 60432142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705446 S 2026 0 1 "" nsv112105 17 60465291 60474901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130683 M 24 GNA13 nsv2123 17 60479939 60502601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2972 S 9 1 0 GNA13 NA18555 esv267535 17 60506340 60510061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514606 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv112229 17 60525585 60535356 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130807 M 24 "" nsv527042 17 60553994 60558723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703418 S 2026 0 1 "" esv1009898 17 60566196 60577185 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564780 S 3 0 1 RGS9 HuRef esv3338 17 60702472 60702930 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25779 S 1 0 1 Single Asian sample YH "" YH nsv2124 17 60719392 60753195 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7345 S 9 1 0 "" NA12156 esv2212690 17 60725282 60725706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759019 S 1 0 1 "" NA18507 esv2172180 17 60752480 60752893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952568 S 1 0 1 "" NA18507 esv26171 17 60894269 60895044 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15372 S 451 0 1 "" NA18916 esv3860 17 60894381 60894824 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26301 S 1 0 1 Single Asian sample YH "" YH esv5206 17 60926404 60926886 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27647 S 1 0 1 Single Asian sample YH "" YH esv2444336 17 60926478 60927095 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366423 S 1 1 0 "" NA18507 esv1973791 17 60926520 60926876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996191 S 1 0 1 "" NA18507 nsv2125 17 61053422 61085464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5668 S 9 1 0 CEP112 NA19129 nsv833519 17 61195430 61359639 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453657,nssv1453656,nssv1453660,nssv1453659,nssv1453658 M 95 2 3 CEP112 esv270058 17 61196286 61196371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517057 S 157 1 0 Samples from several populations that are part of the HapMap project. CEP112 NA11931 nsv828088 17 61202201 61205484 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427128 S 31 0 1 CEP112 AK6 nsv457868 17 61218655 61326533 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534975 S 1557 0 1 CEP112 NINDS_147 nsv457869 17 61270012 61326533 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534976 S 1557 0 1 CEP112 NINDS_241 nsv523470 17 61320518 61578821 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699229 S 2026 0 1 CEP112 esv24211 17 61358140 61400340 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12931 S 451 4 0 CEP112 NA11894,NA18505,NA18517,NA19099 esv33092 17 61386980 61388280 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99782 S 51 0 1 CEP112 22086 nsv507854 17 61393410 61399410 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619191,nssv617928,nssv620620,nssv623232 M 4 4 0 CEP112 CHM,NA10860,NA15510,NA18994 esv1969767 17 61396766 61397218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549735 S 1 0 1 CEP112 NA18507 esv2438395 17 61412334 61413969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292313 S 1 0 1 CEP112 NA18507 nsv457871 17 61465730 61524973 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534977 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CEP112 HGDP00952 nsv510440 17 61513929 61519929 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618428 S 4 0 1 CEP112 CHM nsv457878 17 61529007 61610860 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534979 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CEP112 HGDP01238 nsv457880 17 61555793 61600257 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534980 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CEP112 HGDP00007 nsv510721 17 61667479 61740220 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618950,nssv620103 M 4 0 2 PRKCA NA10860,NA15510 nsv833520 17 61687756 61864837 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453661 S 95 1 0 PRKCA esv2602493 17 61695135 61697445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330545 S 1 0 1 "" NA18507 esv2035460 17 61695313 61696771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981740 S 1 0 1 "" NA18507 esv5215 17 61695467 61696648 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27656 S 1 0 1 Single Asian sample YH "" YH esv5901 17 61695518 61696604 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28342 S 1 0 1 "" SJK esv1010843 17 61717101 61719390 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587197 S 3 1 0 "" HuRef nsv828089 17 61717438 61719390 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421653,nssv1436585,nssv1434768 M 31 0 3 "" NA18570,NA18592,NA18969 esv29933 17 61717639 61719231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16016 S 451 0 2 "" NA18505,NA19099 esv2421472 17 61717771 61719200 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5030098,essv5136865,essv5002261,essv5139300,essv5146288,essv5126878,essv5086815,essv5160630,essv5094568,essv5048689,essv5098727,essv5048360,essv5118095,essv5031396,essv5153867,essv5104414,essv5131917,essv5045314,essv5067380,essv5128121,essv5008454,essv5004488,essv5018119,essv5106664,essv5153009,essv5055207,essv5005953,essv5076720,essv5121553,essv5005960,essv5144374,essv5077912,essv5154861,essv5043382,essv5038138,essv5034960,essv5068538,essv5059637,essv5074326,essv5026408,essv5020933,essv5004905,essv5098766,essv5002385,essv5107580,essv5006200,essv5051573,essv5062670,essv5099504,essv5067834,essv5051270,essv5160026,essv5054782,essv5125400,essv5118356,essv5057120,essv5120499,essv5109798,essv5114508,essv5135466,essv5063977,essv5077721,essv5036301,essv5106213,essv5071488,essv5143362,essv5108285,essv5047104,essv5134611,essv5114194,essv5154945,essv5080519,essv5029046,essv5100391,essv5002724,essv5069520,essv5019833,essv5047661,essv5076842,essv5012913,essv5109188,essv5108545,essv5068427,essv5100964,essv5011256,essv5102035,essv5060995,essv5075763,essv5144291,essv5151697,essv5128441,essv5042372,essv5098513,essv5043273,essv5121147,essv5097716,essv5146620,essv5155251,essv5130766,essv5013907,essv5061216,essv5024437,essv5101511,essv5141099,essv5040155,essv5102061,essv5022220,essv5115939,essv5071903,essv5100014,essv5095503,essv5032257,essv5161142,essv5131942,essv5135733,essv5031081,essv5150287,essv5157166,essv5082954,essv5061757,essv5049384,essv5143752,essv5089563,essv5128443,essv5040691,essv5118407,essv5007715,essv5068865,essv5141550,essv5129498,essv5118849,essv5065327,essv5029054,essv5060338,essv5028574,essv5078428,essv5141718,essv5136009,essv5107932,essv5155326,essv5036436,essv5128755,essv5078224,essv5041736,essv5150915,essv5033341,essv5066927,essv5135972,essv5058702,essv5113476,essv5009088,essv5087209,essv5008252,essv5160959,essv5070023,essv5105046,essv5160837,essv5022694,essv5087283,essv5095388,essv5048095,essv5055602,essv5123852,essv5009406,essv5039606,essv5105315,essv5156377,essv5144928,essv5156643,essv5127707,essv5145940,essv5086990,essv5050783,essv5061685,essv5008316,essv5117294,essv5117015,essv5048072,essv5030792,essv5074714,essv5021976,essv5116924,essv5119030,essv5110141,essv5109060,essv5148125,essv5057782,essv5047083,essv5076413,essv5016786,essv5083472,essv5070457,essv5010930,essv5062136,essv5085569,essv5118871,essv5114156,essv5098558,essv5043358,essv5086370,essv5010719,essv5049736,essv5088556,essv5084759,essv5066900,essv5038004,essv5061070,essv5069670,essv5147341,essv5160854,essv5032959,essv5110240,essv5128075,essv5017522,essv5111343,essv5038841,essv5092462,essv5153587,essv5088989,essv5098148,essv5053857,essv5003332,essv5073337,essv5006348,essv5036004,essv5004747,essv5039951,essv5121136,essv5083875,essv5150150,essv5004047,essv5082752,essv5015021,essv5095809,essv5037497,essv5036332,essv5157699,essv5076503,essv5011513,essv5073905,essv5046302,essv5064364,essv5024013,essv5052320,essv5119557,essv5156227,essv5052508,essv5145239,essv5079459,essv5125893,essv5142388,essv5076111,essv5151155,essv5137914,essv5138478,essv5159611,essv5037863,essv5029813,essv5070963,essv5102806,essv5048031,essv5025902,essv5097217,essv5049043,essv5125941,essv5107684,essv5142612,essv5157211,essv5043585,essv5130441,essv5121179,essv5009581,essv5115480,essv5122421,essv5024739,essv5133929,essv5098370,essv5120346,essv5066130,essv5118708,essv5026515,essv5004290,essv5132391,essv5151886,essv5105626,essv5128286,essv5028425,essv5052762,essv5069363,essv5051031,essv5044288,essv5133044,essv5044179,essv5057874,essv5049311,essv5103389,essv5123981,essv5025343,essv5010853,essv5124962,essv5103157,essv5031606,essv5081635,essv5124894,essv5020566,essv5081861,essv5094951,essv5051690,essv5142169,essv5009358,essv5076686,essv5151902,essv5024248,essv5012891,essv5015821,essv5040465,essv5131328,essv5014222,essv5044244,essv5011047,essv5129640,essv5052090,essv5043122,essv5047454,essv5068182,essv5122469,essv5133882,essv5074097,essv5051352,essv5059491,essv5066328,essv5154076,essv5129592,essv5059614,essv5109119,essv5013337,essv5054095,essv5113450,essv5028237,essv5146054,essv5037783,essv5117124,essv5065852,essv5025604,essv5115109,essv5006942,essv5149474,essv5110545,essv5102291,essv5085981,essv5129715,essv5159129,essv5016588,essv5053825,essv5094827,essv5082697,essv5036275,essv5019108,essv5096878,essv5022638,essv5090324,essv5148463,essv5045612 M 1184 0 363 "" NA06984,NA07014,NA07051,NA07056,NA07345,NA10839,NA10852,NA10865,NA11891,NA11918,NA12005,NA12145,NA12234,NA12739,NA12749,NA12775,NA12802,NA12814,NA12818,NA12829,NA12843,NA17976,NA17980,NA18102,NA18120,NA18128,NA18143,NA18148,NA18149,NA18154,NA18166,NA18484,NA18486,NA18487,NA18501,NA18503,NA18505,NA18509,NA18511,NA18516,NA18517,NA18529,NA18562,NA18570,NA18571,NA18573,NA18592,NA18596,NA18608,NA18616,NA18620,NA18626,NA18635,NA18852,NA18853,NA18855,NA18857,NA18867,NA18869,NA18871,NA18873,NA18874,NA18875,NA18909,NA18912,NA18916,NA18917,NA18930,NA18933,NA18935,NA18945,NA18957,NA18961,NA18963,NA18964,NA18969,NA18977,NA18978,NA18987,NA18993,NA19005,NA19028,NA19036,NA19046,NA19057,NA19060,NA19064,NA19070,NA19084,NA19085,NA19087,NA19088,NA19093,NA19094,NA19098,NA19099,NA19101,NA19103,NA19107,NA19117,NA19118,NA19119,NA19120,NA19122,NA19123,NA19127,NA19130,NA19132,NA19140,NA19142,NA19143,NA19146,NA19147,NA19148,NA19149,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19174,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19189,NA19192,NA19194,NA19197,NA19199,NA19203,NA19213,NA19215,NA19222,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19310,NA19313,NA19318,NA19319,NA19327,NA19328,NA19332,NA19334,NA19347,NA19352,NA19371,NA19375,NA19376,NA19381,NA19382,NA19393,NA19399,NA19403,NA19428,NA19429,NA19439,NA19440,NA19446,NA19449,NA19456,NA19466,NA19468,NA19471,NA19473,NA19625,NA19652,NA19653,NA19654,NA19656,NA19658,NA19663,NA19664,NA19665,NA19678,NA19682,NA19716,NA19718,NA19725,NA19726,NA19727,NA19747,NA19755,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19771,NA19772,NA19774,NA19777,NA19778,NA19789,NA19795,NA19818,NA19834,NA19835,NA19836,NA19901,NA19904,NA19914,NA19915,NA19916,NA19982,NA19983,NA20126,NA20127,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20294,NA20295,NA20301,NA20302,NA20333,NA20334,NA20348,NA20517,NA20519,NA20520,NA20525,NA20527,NA20540,NA20582,NA20586,NA20757,NA20760,NA20768,NA20771,NA20772,NA20774,NA20785,NA20800,NA20801,NA20807,NA20819,NA20826,NA20846,NA20847,NA20850,NA20851,NA20856,NA20861,NA20869,NA20871,NA20872,NA20875,NA20877,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20895,NA20896,NA20897,NA20898,NA20899,NA20901,NA20902,NA20904,NA20906,NA20907,NA20908,NA21086,NA21088,NA21089,NA21091,NA21094,NA21100,NA21103,NA21104,NA21105,NA21106,NA21108,NA21109,NA21111,NA21112,NA21113,NA21117,NA21119,NA21125,NA21137,NA21141,NA21142,NA21143,NA21295,NA21297,NA21302,NA21303,NA21308,NA21309,NA21311,NA21313,NA21336,NA21355,NA21362,NA21363,NA21364,NA21370,NA21379,NA21381,NA21383,NA21385,NA21386,NA21391,NA21400,NA21402,NA21404,NA21405,NA21423,NA21438,NA21439,NA21451,NA21457,NA21473,NA21476,NA21478,NA21493,NA21509,NA21512,NA21513,NA21514,NA21517,NA21520,NA21526,NA21527,NA21573,NA21574,NA21583,NA21587,NA21608,NA21611,NA21613,NA21614,NA21617,NA21620,NA21634,NA21647,NA21648,NA21650,NA21683,NA21686,NA21689,NA21722,NA21768,NA21776 nsv515667 17 61719099 61726150 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664654,nssv684275,nssv682399,nssv695512,nssv680857,nssv670958,nssv669318,nssv668293,nssv693692,nssv664312,nssv668309,nssv667397,nssv665267,nssv658066 M 2026 1 13 "" nsv526542 17 61719099 61734255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702856 S 2026 0 1 PRKCA nsv523847 17 61734255 61753145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699681 S 2026 0 1 PRKCA nsv519825 17 61735096 61753145 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697071 S 2026 1 0 PRKCA esv272620 17 61764516 61764996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578973 S 7 1 0 Samples from several populations that are part of the HapMap project. PRKCA NA19239 esv267744 17 61764628 61764988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511942 S 157 1 0 Samples from several populations that are part of the HapMap project. PRKCA NA19238 nsv457881 17 61839311 61862528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534981 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCA HGDP00700 nsv470597 17 61839311 61862528 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547485 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCA HGDP00700 nsv457882 17 61841377 61902137 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534982 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCA HGDP01400 nsv457887 17 61841377 61948969 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534986 S 1557 0 1 PRKCA 1782681117_A esv274286 17 61850355 61850463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581006,essv2579767 M 7 2 0 Samples from several populations that are part of the HapMap project. PRKCA NA19238,NA19240 esv22631 17 61888436 61889221 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21104 S 451 0 1 PRKCA NA18508 nsv528595 17 61966895 61967521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705221 S 2026 0 1 PRKCA nsv517904 17 61984799 62009907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695315 S 2026 0 1 PRKCA esv2160844 17 62014096 62014555 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802622 S 1 0 1 PRKCA NA18507 nsv2126 17 62058655 62079021 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10130,nssv4285 M 9 2 0 PRKCA NA12878,NA18956 esv268759 17 62067721 62067806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516770,essv2516968,essv2514190,essv2514853,essv2518536,essv2517726 M 157 6 0 Samples from several populations that are part of the HapMap project. PRKCA NA11881,NA11931,NA12043,NA12234,NA12287,NA12878 esv274427 17 62067721 62067806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581633 S 7 1 0 Samples from several populations that are part of the HapMap project. PRKCA NA12878 nsv510441 17 62076323 62082323 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618429 S 4 0 1 PRKCA CHM nsv516184 17 62099506 62099806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667823,nssv666672 M 2026 0 2 PRKCA nsv111836 17 62175537 62175696 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130414 M 24 PRKCA nsv512499 17 62224581 62226849 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625100 S 1 0 1 PRKCA 1 nsv833521 17 62285480 62454197 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453664,nssv1453662,nssv1453663 M 95 0 3 CACNG4,CACNG5 esv2468847 17 62360636 62362322 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306021 S 1 0 1 "" NA18507 esv2095294 17 62360815 62361448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856149 S 1 0 1 "" NA18507 esv3155 17 62360937 62361396 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25596 S 1 0 1 Single Asian sample YH "" YH esv1047635 17 62361017 62361333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271877 S 2 0 1 "" HuRef esv25859 17 62390119 62392112 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11360 S 451 1 0 CACNG4 NA12044 nsv469731 17 62392932 62579144 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649752 M 265 0 3 Samples from several populations that are part of the HapMap project. CACNG1,CACNG4,HELZ esv27303 17 62415336 62416542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11802 S 451 0 3 CACNG4 NA19108,NA19147,NA19257 esv1634500 17 62453075 62453129 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962460 S 2 0 1 CACNG4 HuRef nsv828090 17 62458945 62469116 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436229 S 31 0 1 CACNG4 NA18566 nsv9586 17 62482048 62484983 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27232 S 31 0 1 Samples from several populations that are part of the HapMap project. CACNG1 NA18517 nsv908690 17 62483067 62706913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573652 S 6533 0 1 CACNG1,HELZ IS33475 esv2558362 17 62532555 62533476 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333513 S 1 1 0 HELZ NA18507 esv269464 17 62733943 62734281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514545,essv2516669,essv2519302,essv2517087,essv2515303,essv2516616,essv2515575,essv2515930,essv2517364 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11931,NA12249,NA12814,NA12815,NA12873,NA18970 esv23559 17 62818658 62832140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12886 S 451 0 1 PITPNC1 NA12489 nsv471703 17 62820088 62981367 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551221,nssv551224,nssv551229,nssv551226,nssv551223,nssv551228,nssv551225,nssv551222,nssv551227 M 48 9 0 MIR548AA2,PITPNC1 NA10493,NA15724,NA15725,NA15726,NA15727,NA15732,NA15733,NA16688,NA17020 nsv527795 17 62847603 62862409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704287 S 2026 0 1 PITPNC1 esv25094 17 62868854 62874004 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19774 S 451 0 1 PITPNC1 NA11993 nsv833522 17 62875936 63067191 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453666,nssv1453665 M 95 1 1 MIR548AA2,PITPNC1 nsv2127 17 62914960 62946793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1382 S 9 1 0 PITPNC1 NA19240 nsv111730 17 62949252 62950071 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130308 M 24 PITPNC1 esv2578455 17 62950769 62952055 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280076 S 1 0 1 PITPNC1 NA18507 esv2132459 17 62951130 62951843 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864024 S 1 0 1 PITPNC1 NA18507 esv3230 17 62951241 62951763 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25671 S 1 0 1 Single Asian sample YH PITPNC1 YH esv8059 17 62951314 62951646 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30500 S 1 0 1 PITPNC1 SJK nsv111972 17 62951317 62951646 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130550 M 24 PITPNC1 esv1090676 17 62951327 62951657 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081175 S 2 0 1 PITPNC1 HuRef nsv510722 17 63022299 63127963 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618951 S 4 0 1 PITPNC1 NA10860 nsv112354 17 63109768 63114916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130932 M 24 PITPNC1 esv267883 17 63127471 63127684 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507911,essv2511143,essv2497841,essv2503529 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18944,NA18945,NA18947 nsv511059 17 63140093 63298876 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622421 S 4 0 0 BPTF,NOL11,SNORA38B NA10860 nsv510442 17 63156645 63162645 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618430 S 4 0 1 NOL11 CHM esv2556372 17 63156818 63158477 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362335 S 1 0 1 NOL11 NA18507 esv2209241 17 63157619 63158298 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685875 S 1 0 1 NOL11 NA18507 esv3806 17 63157802 63158167 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26247 S 1 0 1 Single Asian sample YH NOL11 YH esv1406871 17 63157833 63158109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144741 S 2 0 1 NOL11 HuRef esv7392 17 63157842 63158091 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29833 S 1 0 1 NOL11 SJK nsv507855 17 63200464 63206464 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617929 S 4 1 0 "" CHM nsv828091 17 63203053 63204902 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434769 S 31 0 1 "" NA18570 nsv828092 17 63203620 63204902 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431710 S 31 0 1 "" AK18 nsv111983 17 63205382 63205667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130561 M 24 "" esv22926 17 63255728 63270086 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11054 S 451 1 0 BPTF NA11993 nsv436233 17 63284939 63723041 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465629 S 2 0 1 Samples from several populations that are part of the HapMap project. BPTF,C17orf58,KPNA2,LOC100499466,LOC440461 NA18505 esv22750 17 63377932 63419924 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18655 S 451 2 0 BPTF,C17orf58 NA07045,NA11931 esv1429192 17 63382734 63383379 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080134 S 2 0 1 BPTF HuRef nsv112009 17 63411224 63415901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130587 M 24 "" nsv471405 17 63417679 63420227 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548185,nssv548183,nssv548184 M 3 C17orf58 esv26540 17 63420019 63421152 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18073 S 451 0 1 C17orf58 NA07045 esv2475828 17 63432211 63432696 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177929 S 1 1 0 "" NA18507 nsv908691 17 63492778 63681642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587299 S 6533 0 1 LOC100499466 IS38006 nsv9587 17 63587668 63677919 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24409 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC100499466 NA10839 esv23951 17 63595799 63690146 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9829,esv18935 M 451 1 1 LOC100499466 NA07045,NA12749 nsv828093 17 63732005 63739329 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432523 S 31 0 1 "" AK20 esv274872 17 63734897 63735417 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585584,essv2585266 M 1250 1 1 "" esv33825 17 63738745 63739158 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96622,essv93579 M 51 1 1 "" 22011,22128 esv2280171 17 63738968 63739564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804466 S 1 0 1 "" NA18507 esv3843 17 63739090 63739442 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26284 S 1 0 1 Single Asian sample YH "" YH nsv908692 17 63787425 63811843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510215 S 6533 0 1 ARSG,SLC16A6 SP54956 nsv833523 17 63854918 64022056 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453667 S 95 1 0 ARSG,MIR635,PRKAR1A,WIPI1 esv2557973 17 63938896 63939863 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273380 S 1 1 0 WIPI1 NA18507 esv993931 17 63939463 63939463 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570757 S 3 1 0 WIPI1 HuRef esv1105165 17 63939503 63939503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849461 S 2 1 0 WIPI1 HuRef esv274688 17 63981729 63982062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581212 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv522271 17 63987181 63989613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695052 S 2026 0 1 "" esv2430964 17 64003438 64004363 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207495 S 1 1 0 "" NA18507 nsv833524 17 64035625 64216789 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453668 S 95 1 0 FAM20A,PRKAR1A nsv510723 17 64041263 64069020 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622723 S 4 0 1 FAM20A NA18994 nsv507856 17 64043518 64049518 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617930 S 4 1 0 FAM20A CHM nsv522126 17 64049834 64060052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694900 S 2026 0 1 FAM20A nsv908693 17 64130649 64159435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500380 S 6533 1 0 "" SP50118 nsv521432 17 64164189 64172422 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698042 S 2026 1 0 "" nsv521300 17 64184833 64185387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697907 S 2026 0 1 "" nsv522322 17 64185387 64194774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695102 S 2026 0 1 "" esv23111 17 64188878 64192042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12506 S 451 0 1 "" NA19129 nsv523831 17 64244733 64250500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699662 S 2026 0 1 "" nsv526857 17 64299023 64301554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703215 S 2026 0 1 "" esv27220 17 64309442 64311113 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10514 S 451 2 0 "" NA19099,NA19114 nsv908694 17 64314587 64425531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596761 S 6533 0 1 ABCA8 IS40627 nsv7296 17 64351723 64386607 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10131 S 9 0 0 ABCA8 NA18956 nsv908695 17 64377178 64415596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557774 S 6533 0 1 ABCA8 MS22858 nsv908696 17 64397121 64414888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561195 S 6533 0 1 ABCA8 MS24873 dgv3244n71 17 64397121 64427193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908697,nsv908698 M 6533 0 4 ABCA8 MS10203,MS12624,SP54223,SP57165 dgv3245n71 17 64397121 64444598 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908699,nsv908702 M 6533 0 3 ABCA8 IS39326,MS20346,SP56914 dgv3246n71 17 64397121 64497587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908700,nsv908701,nsv908703 M 6533 0 3 ABCA8,ABCA9 IS33533,IS33738,MS25617 nsv908704 17 64436919 64471305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513979 S 6533 0 1 ABCA8 SP55878 esv2551004 17 64471950 64473474 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382949 S 1 0 1 "" NA18507 esv1970031 17 64472328 64473041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875936 S 1 0 1 "" NA18507 esv5238 17 64472461 64472933 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27679 S 1 0 1 Single Asian sample YH "" YH esv9159 17 64472515 64472856 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31600 S 1 0 1 "" SJK esv995953 17 64472522 64472854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584271 S 3 0 1 "" HuRef esv1608576 17 64472536 64472869 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842152 S 2 0 1 "" HuRef nsv833526 17 64492353 64648629 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453669 S 95 1 0 ABCA6,ABCA9,MIR4524 nsv908705 17 64573493 64624051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526320 S 6533 0 1 ABCA6,MIR4524 SP57165 nsv470598 17 64593425 64724190 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547486 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA10,ABCA6,MIR4524 HGDP00983 esv2556464 17 64598511 64600168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343682 S 1 0 1 ABCA6 NA18507 esv2069389 17 64599059 64599763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697390 S 1 0 1 ABCA6 NA18507 esv2615334 17 64599250 64599560 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332328 S 1 0 1 ABCA6 NA18507 esv1450413 17 64599261 64599572 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186204 S 2 0 1 ABCA6 HuRef nsv2128 17 64642025 64676507 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4286 S 9 1 0 ABCA10,ABCA6 NA12878 nsv457888 17 64661568 64738238 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534987 S 1557 0 1 ABCA10 1780862176_A nsv2129 17 64700255 64733873 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2973 S 9 1 0 ABCA10 NA18555 nsv516799 17 64721862 64743176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682084,nssv670999,nssv677274,nssv687866 M 2026 0 4 ABCA10 nsv833527 17 64752170 64912466 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453671,nssv1453670 M 95 1 1 ABCA10,ABCA5 esv275054 17 64767821 64771740 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585555 S 1250 0 1 ABCA5 nsv457890 17 64775934 64839401 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534988 S 1557 0 1 ABCA5 NINDS_95 nsv908706 17 64802435 64843950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587576 S 6533 0 1 ABCA5 IS38065 esv2546518 17 64855370 64861112 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301403 S 1 0 1 "" NA18507 esv2049701 17 64855813 64860605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770185 S 1 0 1 "" NA18507 esv29283 17 64855986 64860374 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16992 S 451 0 8 "" NA18523,NA18907,NA18916,NA19114,NA19129,NA19190,NA19225,NA19257 esv2431356 17 64856005 64858855 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242092 S 1 0 1 "" NA18507 nsv522420 17 64856953 64869168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705773 S 2026 0 1 "" nsv112099 17 64914168 64914168 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130677 M 24 "" nsv2130 17 64921203 64953449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10132 S 9 1 0 MAP2K6 NA18956 nsv520649 17 64932028 64952406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687714,nssv673534,nssv701997 M 2026 0 3 MAP2K6 nsv516319 17 65114184 65126171 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661492,nssv667544,nssv703098,nssv657585,nssv683017 M 2026 4 1 "" nsv510724 17 65201314 65264008 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620104 S 4 0 1 "" NA15510 nsv828094 17 65218362 65257146 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421664 S 31 0 1 "" NA18969 nsv828095 17 65251086 65257975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434770 S 31 0 1 "" NA18570 nsv516735 17 65251349 65269890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686993,nssv676549,nssv670535 M 2026 0 3 "" nsv112101 17 65347582 65347644 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130679 M 24 "" esv2449656 17 65386370 65387385 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177900 S 1 1 0 "" NA18507 esv268553 17 65386927 65387253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575856,essv2521085,essv2526243,essv2536532,essv2543830,essv2570927,essv2564378,essv2577838,essv2564287,essv2554916,essv2530491,essv2540143,essv2520768,essv2557047,essv2552733,essv2551743,essv2532170,essv2562664,essv2569583,essv2578680,essv2536814,essv2539135,essv2527356,essv2561548,essv2540321,essv2561127,essv2560039,essv2522226,essv2532600,essv2567947,essv2528976,essv2563635,essv2559187,essv2542192,essv2568930,essv2543493,essv2556346,essv2527856,essv2562359,essv2539414,essv2533907,essv2555430,essv2567264,essv2573990,essv2557612,essv2556119,essv2522324,essv2531654,essv2572127,essv2529543,essv2575717,essv2575330,essv2538610,essv2560805,essv2568535,essv2545148,essv2560450,essv2571515,essv2545928,essv2574283,essv2551214,essv2533208,essv2554352,essv2563468 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA10847,NA11830,NA11894,NA11918,NA11920,NA11992,NA11993,NA12751,NA12761,NA12828,NA12872,NA18486,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18552,NA18562,NA18570,NA18571,NA18576,NA18577,NA18579,NA18603,NA18638,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18943,NA18947,NA18951,NA18953,NA18956,NA18960,NA18961,NA18973,NA19093,NA19099,NA19102,NA19108,NA19137,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv274554 17 65386927 65387253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584164,essv2584672,essv2583568 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv27038 17 65394199 65394974 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18591 S 451 0 2 "" NA18508,NA19240 esv275207 17 65396861 65403601 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585811,essv2585914 M 1250 1 1 "" dgv998e1 17 65403530 65490775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2432,esv495 M 271 0 0 "" NA18999 nsv521892 17 65406549 65469283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694664 S 2026 0 1 "" esv8145 17 65416856 65416932 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30586 S 1 1 0 "" SJK esv259490 17 65469182 65469786 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394110,essv2393836,essv2393673,essv2394037,essv2394261 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv259961 17 65469190 65469794 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398642,essv2400011,essv2398597,essv2400323,essv2398462,essv2395288,essv2399118,essv2401151,essv2397541,essv2398870,essv2396241,essv2397565,essv2398683,essv2396279,essv2395378,essv2397955,essv2399622,essv2397317,essv2396914,essv2397603,essv2395252,essv2397686,essv2399913,essv2397835,essv2399219,essv2400624,essv2398572,essv2396461,essv2395033,essv2397449,essv2396120,essv2400958,essv2395115,essv2398401,essv2398526,essv2395055,essv2399867,essv2400622,essv2396882,essv2400418,essv2396847,essv2398433,essv2397926,essv2400670,essv2395318,essv2394408,essv2397470,essv2397124,essv2395811,essv2396974,essv2398314,essv2401008,essv2399312,essv2395141,essv2399803,essv2399531,essv2395982,essv2397026,essv2400505,essv2394521 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA10847,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11995,NA12006,NA12044,NA12489,NA12716,NA12749,NA12751,NA12761,NA12878,NA12892,NA18489,NA18499,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18523,NA18547,NA18550,NA18552,NA18562,NA18571,NA18573,NA18576,NA18579,NA18592,NA18638,NA18871,NA18907,NA18912,NA18916,NA18943,NA18947,NA18951,NA18961,NA18973,NA19093,NA19099,NA19102,NA19108,NA19129,NA19137,NA19238,NA19239,NA19240,NA19257 esv2473047 17 65488148 65489611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195663 S 1 0 1 "" NA18507 esv260022 17 65536535 65537029 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399745,essv2395552,essv2398141,essv2398765 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18593,NA18949,NA19005 nsv833528 17 65547048 65749094 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453672 S 95 0 1 FLJ36644,KCNJ16,KCNJ2 nsv2131 17 65598518 65893913 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10977 S 9 0 1 FLJ36644,KCNJ16,KCNJ2 NA15510 nsv498875 17 65603121 65859006 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585736 S 9 0 1 FLJ36644,KCNJ16,KCNJ2 nsv828096 17 65614411 65616016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436596 S 31 0 1 KCNJ16 NA18592 nsv526271 17 65618583 65627648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702545 S 2026 0 1 KCNJ16 nsv520048 17 65626554 65632401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697195 S 2026 0 1 KCNJ16 esv2371301 17 65661634 65662349 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648019 S 1 0 1 "" NA18507 esv1333460 17 65661843 65662151 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918956 S 2 0 1 "" HuRef nsv111987 17 65671536 65671868 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130565 M 24 "" nsv820316 17 65684274 65684811 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418994 S 2 1 0 KCNJ2 AK1 dgv3247n71 17 65710430 65747240 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908707,nsv908709 M 6533 0 3 "" IS33533,MS10737,MS25617 nsv908708 17 65712954 65733612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519779 S 6533 1 0 "" SP50544 nsv457891 17 65715510 65733612 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534989 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01304 esv273250 17 65718237 65718421 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580272 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv908710 17 65719222 65736884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581319 S 6533 0 1 "" IS35566 nsv457892 17 65724050 65733612 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534990 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00516 dgv3248n71 17 65724237 65747240 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908713,nsv908711,nsv908712 M 6533 0 6 "" IS38630,SP51082,SP54370,SP54402,SP57329,SP57401 esv2509131 17 65730778 65732264 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225803 S 1 0 1 "" NA18507 esv995560 17 65731309 65731417 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573203 S 3 0 1 "" HuRef esv1037341 17 65731369 65731478 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183469 S 2 0 1 "" HuRef esv2468309 17 65783502 65784474 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255417 S 1 1 0 "" NA18507 esv270897 17 65820696 65821008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546187,essv2535380,essv2544469,essv2547304,essv2553753,essv2554820,essv2557156,essv2544834,essv2572190,essv2539236,essv2572630,essv2549903,essv2551544,essv2533050 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11881,NA12249,NA12414,NA12717,NA12763,NA12872,NA18501,NA18526,NA18609,NA18912,NA19143,NA19225,NA19257 nsv2133 17 65849961 65878846 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2183,nssv10133,nssv4287 M 9 3 0 "" NA12878,NA18555,NA18956 esv987872 17 65867742 65869071 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564936 S 3 1 0 "" HuRef esv273655 17 65868976 65875025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581708,essv2582806 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv269159 17 65868976 65875053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540805,essv2546551,essv2525994,essv2542269,essv2522700,essv2570732,essv2548241,essv2550465,essv2535330,essv2544304,essv2577775,essv2553558,essv2576198,essv2520252,essv2537578,essv2547048,essv2562993,essv2542708,essv2540589,essv2524727,essv2564786,essv2549170,essv2519745,essv2565977,essv2532840,essv2568018,essv2528968,essv2567499,essv2570135,essv2553283,essv2535712,essv2578150,essv2573260,essv2533630,essv2566353,essv2556011,essv2534373,essv2531400,essv2573564,essv2525767,essv2538052,essv2548962,essv2533012,essv2554567,essv2547757,essv2524835 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA11831,NA11881,NA11918,NA11919,NA11931,NA12044,NA12045,NA12234,NA12249,NA12414,NA12761,NA12763,NA12814,NA12815,NA12878,NA12892,NA18532,NA18550,NA18552,NA18555,NA18558,NA18564,NA18566,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18605,NA18608,NA18940,NA18942,NA18944,NA18948,NA18956,NA18959,NA18961,NA18964,NA18980 nsv510725 17 65891559 65958973 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622724 S 4 0 1 "" NA18994 nsv908714 17 65932841 66027640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555138 S 6533 0 1 "" MS21195 nsv2134 17 65950899 66012668 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10978,nssv2184,nssv6729,nssv5670 M 9 0 4 "" NA12156,NA15510,NA18555,NA19129 esv2234858 17 65957859 65958307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757958 S 1 0 1 "" NA18507 nsv510726 17 65961471 65974036 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622725,nssv620105,nssv617432,nssv618952 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv271012 17 65964790 65964950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505962,essv2507139 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18861,NA18870 esv2438613 17 65965992 65973302 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308895 S 1 0 1 "" NA18507 nsv512500 17 65966327 65972984 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625101 S 1 0 1 "" 1 esv991072 17 65966432 65973612 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564620 S 3 0 1 "" HuRef nsv435674 17 65966602 65972772 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465630 S 2 0 1 "" NA15510 esv3357 17 65966652 65972819 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25798 S 1 0 1 Single Asian sample YH "" YH esv5947 17 65966688 65972773 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28388 S 1 0 1 "" SJK nsv833529 17 66004374 66186087 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453673 S 95 1 0 "" nsv908715 17 66007685 66090535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528352 S 6533 1 0 "" SP81202 nsv2135 17 66095452 66128351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6730 S 9 1 0 "" NA12156 nsv908716 17 66117911 66294236 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528353 S 6533 1 0 "" SP81202 esv2134236 17 66126595 66127020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941163 S 1 0 1 "" NA18507 nsv908717 17 66305185 66418658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528354 S 6533 1 0 "" SP81202 nsv516671 17 66340178 66361624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670067,nssv685774,nssv662834,nssv654931 M 2026 0 4 "" esv1099300 17 66366222 66366222 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043458 S 2 1 0 "" HuRef esv1285443 17 66366380 66366586 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612444 S 2 0 1 "" HuRef esv2054991 17 66399679 66400114 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612367 S 1 0 1 "" NA18507 esv2317893 17 66431614 66432042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558712 S 1 0 1 "" NA18507 nsv457893 17 66454608 66522718 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534991 S 1557 1 0 "" NINDS_174 esv270272 17 66494908 66494993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513981 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv526073 17 66615939 66617179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702313 S 2026 0 1 "" nsv516815 17 66617179 66620348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671122,nssv672732,nssv658067,nssv693408,nssv681623 M 2026 0 5 "" esv24284 17 66636478 66637108 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13657 S 451 1 0 "" NA11993 nsv457894 17 66713406 66750867 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534992 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00638 esv1010523 17 66719028 66727989 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587032 S 3 1 0 "" HuRef dgv537n67 17 66719028 66728032 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828099,nsv828098 M 31 3 0 "" AK12,NA18570,NA18947 nsv828100 17 66727289 66728032 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423012 S 31 1 0 "" NA18552 nsv908718 17 66750867 66772508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600398,nssv1600906,nssv1559644,nssv1557091,nssv1554460 M 6533 0 5 "" IS41877,IS41940,MS20813,MS22353,MS24073 dgv3249n71 17 66750867 66789877 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908720,nsv908719 M 6533 0 3 "" IS31228,IS37428,MS10393 nsv908721 17 66750867 66822812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557474 S 6533 0 1 "" MS22705 esv1669542 17 66776270 66776270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674102 S 2 1 0 "" HuRef nsv112055 17 66776271 66776271 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130633 M 24 "" nsv908722 17 66802264 66868911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578771 S 6533 0 1 "" IS34896 nsv908723 17 66836296 66891355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575631 S 6533 0 1 "" IS33786 nsv507857 17 66836310 66842310 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617931,nssv623233,nssv619192,nssv620621 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv457895 17 66838178 66882690 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534993 S 1557 0 1 "" 1798860114_A esv1043651 17 66846571 66846631 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973324 S 2 0 1 "" HuRef nsv111829 17 66846600 66846659 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130407 M 24 "" nsv111759 17 66851440 66857293 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130337 M 24 "" nsv457896 17 66872466 66899055 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534994 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 esv270524 17 66889614 66889774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494165,essv2494765,essv2507198,essv2509178,essv2506738,essv2493521,essv2512142,essv2501978,essv2498228 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18519,NA18870,NA18909,NA19108,NA19137,NA19238,NA19239,NA19240 esv273842 17 66889620 66889787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584091,essv2584453,essv2583402 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv112378 17 66988602 66996806 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130956 M 24 "" nsv908724 17 67109812 67244986 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541026 S 6533 1 0 "" MS15167 esv1734555 17 67117605 67117605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139167 S 2 1 0 "" HuRef esv268496 17 67126379 67126882 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511008,essv2506813,essv2511911,essv2506044,essv2503162,essv2512354,essv2506637,essv2499045,essv2504339 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11831,NA11918,NA18499,NA18523,NA18943,NA18949,NA19108,NA19114 nsv2136 17 67157099 67188301 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6731 S 9 0 1 "" NA12156 esv2574837 17 67234683 67235678 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298263 S 1 1 0 "" NA18507 nsv112579 17 67256170 67256223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131157 M 24 "" esv2452933 17 67363011 67364335 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163019 S 1 0 1 "" NA18507 esv1980578 17 67363543 67364274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698241 S 1 0 1 "" NA18507 esv3865 17 67363702 67364170 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26306 S 1 0 1 Single Asian sample YH "" YH nsv111699 17 67363750 67364076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130277 M 24 "" esv274039 17 67398695 67399016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584709,essv2583807 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv112282 17 67436334 67436407 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130860 M 24 "" esv29056 17 67537841 67538535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11451 S 451 0 1 "" NA18505 nsv833530 17 67541685 67740709 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453676,nssv1453675,nssv1453674 M 95 2 1 SOX9 esv2653817 17 67567802 67569361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357234 S 1 0 1 "" NA18507 nsv828101 17 67601856 67602357 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426201 S 31 1 0 "" AK4 nsv833531 17 67701255 67859924 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453677 S 95 1 0 "" nsv520881 17 67726593 67758303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697667 S 2026 1 0 "" nsv833532 17 67746245 67905909 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453678 S 95 0 1 "" nsv457898 17 67776374 67804357 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534996 S 1557 0 1 "" 1780854393_A nsv517799 17 67801683 67804357 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695202 S 2026 1 0 "" nsv833533 17 67849973 68017750 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453679 S 95 1 0 LOC100499467 nsv517967 17 67879239 67882483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695379 S 2026 0 1 "" nsv507858 17 67897508 67903508 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620622,nssv623234 M 4 2 0 "" NA15510,NA18994 nsv527550 17 67992695 68001836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704011 S 2026 0 1 LOC100499467 esv24730 17 68049304 68051034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12998 S 451 0 1 LOC100499467 NA19225 nsv528666 17 68168325 68169864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705304 S 2026 0 1 SLC39A11 esv1118006 17 68172528 68172594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923006 S 2 0 1 SLC39A11 HuRef esv259495 17 68192946 68193281 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394208,essv2393806,essv2393672,essv2394010,essv2394254 M 6 0 0 Samples from several populations that are part of the HapMap project. SLC39A11 NA12878,NA12892,NA19238,NA19239,NA19240 esv259955 17 68192960 68193294 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400227,essv2400297,essv2401118,essv2396255,essv2400576,essv2397595,essv2398058,essv2399980,essv2396661,essv2398656,essv2397312,essv2396937,essv2395577,essv2397652,essv2397844,essv2396601,essv2399257,essv2396465,essv2396132,essv2396612,essv2395720,essv2395109,essv2399550,essv2400160,essv2399929,essv2399473,essv2394603,essv2398197,essv2395338,essv2394874,essv2394417,essv2397512,essv2395134,essv2397719,essv2398289,essv2401017,essv2395170,essv2394826,essv2396401,essv2398048,essv2397235,essv2395938,essv2397050,essv2400543 M 144 0 0 Samples from several populations that are part of the HapMap project. SLC39A11 NA07037,NA11881,NA11931,NA12006,NA12043,NA12044,NA12144,NA12156,NA12414,NA12489,NA12878,NA12892,NA18501,NA18502,NA18505,NA18507,NA18508,NA18517,NA18523,NA18526,NA18532,NA18550,NA18570,NA18608,NA18856,NA18858,NA18870,NA18909,NA18916,NA18942,NA18943,NA18947,NA18953,NA18956,NA19093,NA19099,NA19108,NA19114,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240 dgv3250n71 17 68199476 68233377 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908725,nsv908729,nsv908728 M 6533 3 0 SLC39A11 IS34184,IS34830,IS37992 dgv3251n71 17 68199668 68213962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908726,nsv908727 M 6533 0 3 SLC39A11 SP54072,SP56013,SP57376 esv267646 17 68207738 68208067 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526084,essv2536641,essv2568374,essv2570593,essv2554173,essv2544411,essv2520644,essv2537795,essv2533333 M 157 9 0 Samples from several populations that are part of the HapMap project. SLC39A11 NA07000,NA07051,NA11918,NA11920,NA11995,NA12044,NA12287,NA12414,NA12716 esv259651 17 68209503 68209798 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394087,essv2393927,essv2394043,essv2394302 M 6 0 0 Samples from several populations that are part of the HapMap project. SLC39A11 NA12878,NA12891,NA19239,NA19240 esv259893 17 68209510 68209843 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394771,essv2399015,essv2400265,essv2400299,essv2400911,essv2400589,essv2398086,essv2397338,essv2401051,essv2397655,essv2399263,essv2399315,essv2400836,essv2397434,essv2399573,essv2400151,essv2395859,essv2399787,essv2397061,essv2400511 M 144 0 0 Samples from several populations that are part of the HapMap project. SLC39A11 NA07357,NA10851,NA11829,NA11881,NA11993,NA12043,NA12144,NA12878,NA12891,NA18502,NA18508,NA18522,NA18564,NA18566,NA18570,NA18608,NA18945,NA19129,NA19239,NA19240 nsv111666 17 68209598 68209598 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130244 M 24 SLC39A11 esv1465732 17 68209729 68209729 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712728 S 2 1 0 SLC39A11 HuRef nsv519333 17 68246282 68257187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698810,nssv655470,nssv693189 M 2026 0 3 SLC39A11 nsv517895 17 68269420 68501296 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695304 S 2026 0 1 SLC39A11 esv6132 17 68269635 68269693 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28573 S 1 1 0 SLC39A11 SJK nsv457899 17 68284502 68320680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534997 S 1557 0 1 SLC39A11 1780862176_A nsv525813 17 68284502 68320680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701998 S 2026 0 1 SLC39A11 nsv524320 17 68285380 68293500 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700223 S 2026 1 0 SLC39A11 esv28025 17 68301580 68306770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15634 S 451 0 1 SLC39A11 NA18508 nsv442424 17 68304153 68306056 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC39A11 esv24117 17 68326764 68332721 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14066 S 451 0 3 SLC39A11 NA07045,NA12006,NA12044 nsv509667 17 68346490 68372691 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618124,nssv619718,nssv621045 M 4 3 0 SLC39A11 CHM,NA10860,NA15510 nsv511060 17 68346490 68399536 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624353 S 4 0 0 SLC39A11 NA18994 nsv2137 17 68349209 68391836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10979,nssv1383,nssv9968,nssv10134,nssv4288,nssv2185,nssv7346,nssv5672,nssv5671 M 9 8 0 SLC39A11 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv164 17 68361430 68390648 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv164 S 1 1 0 SLC39A11 NA15510 esv1004601 17 68367716 68370231 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565258 S 3 1 0 SLC39A11 HuRef nsv908730 17 68417046 68450807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528839 S 6533 0 1 SLC39A11 SP81367 esv26793 17 68422318 68423388 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19176 S 451 0 1 SLC39A11 NA12239 esv27281 17 68491243 68492191 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9787 S 451 0 1 SLC39A11 NA12414 nsv528252 17 68497256 68497686 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704818 S 2026 1 0 SLC39A11 nsv908731 17 68513124 68550945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523840,nssv1531550,nssv1555103,nssv1545996,nssv1526390 M 6533 0 5 SLC39A11 MS10544,MS17093,MS21192,SP54223,SP57536 dgv3252n71 17 68513124 68571003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908732,nsv908733 M 6533 0 2 SLC39A11 MS25963,SP58026 nsv509669 17 68520211 68577573 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623720 S 4 1 0 SLC39A11 NA18994 nsv470599 17 68530900 68567461 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547487 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC39A11 HGDP01382 nsv523221 17 68530900 68567461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698943 S 2026 0 1 SLC39A11 esv2499710 17 68559105 68559669 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285771 S 1 1 0 SLC39A11 NA18507 nsv513479 17 68559327 68559595 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625885 S 1 1 0 SLC39A11 1 esv1578515 17 68559495 68559495 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901903 S 2 1 0 SLC39A11 HuRef nsv519473 17 68565359 68567461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689421,nssv656304,nssv687261 M 2026 0 3 SLC39A11 nsv908734 17 68572430 68627289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528914 S 6533 0 1 SLC39A11 SP81389 esv1031977 17 68589424 68589424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912938 S 2 1 0 SLC39A11 HuRef nsv528296 17 68609128 68613568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704871 S 2026 0 1 "" nsv509670 17 68641641 68662859 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618125 S 4 1 0 "" CHM esv1404271 17 68655669 68655903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170996 S 2 0 1 "" HuRef esv8996 17 68655729 68655981 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31437 S 1 0 1 "" SJK nsv833534 17 68663376 68857089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453680 S 95 0 1 C17orf80,CDC42EP4,COG1,CPSF4L,FAM104A,SDK2,SSTR2 esv2104946 17 68700399 68700830 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798906 S 1 0 1 COG1 NA18507 nsv112364 17 68700568 68700669 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130942 M 24 "" esv2186746 17 68728086 68729394 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648406 S 1 0 1 FAM104A NA18507 esv2562139 17 68728341 68730030 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266353 S 1 0 1 FAM104A NA18507 nsv2138 17 68742643 68777144 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2974 S 9 1 0 C17orf80,CPSF4L NA18555 nsv908735 17 68761290 68869405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546952 S 6533 0 1 CDC42EP4,CPSF4L,SDK2 MS17208 nsv112220 17 68804740 68807188 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130798 M 24 CDC42EP4 nsv908736 17 68805762 68865385 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587714 S 6533 1 0 CDC42EP4,SDK2 IS38101 nsv112181 17 68811406 68816772 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130759 M 24 CDC42EP4 nsv908737 17 68831812 68918837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530894 S 6533 0 1 SDK2 MS10311 nsv457900 17 68846855 68869405 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534998 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDK2 HGDP00553 esv2507814 17 68881251 68883064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168175 S 1 0 1 SDK2 NA18507 esv2415749 17 68881487 68882554 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975270 S 1 0 1 SDK2 NA18507 nsv513480 17 68912862 68912982 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625886 S 1 1 0 SDK2 1 esv1445939 17 68912944 68912944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686943 S 2 1 0 SDK2 HuRef esv271862 17 68922867 68928639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518610 S 157 1 0 Samples from several populations that are part of the HapMap project. SDK2 NA12287 nsv908738 17 69040691 69086657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543734 S 6533 0 1 SDK2 MS16153 nsv908739 17 69070014 69120727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546953 S 6533 0 1 SDK2 MS17208 esv29459 17 69152265 69153639 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15394 S 451 0 1 "" NA07045 dgv12e196 17 69182777 70073273 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422233,esv2422280 M 181 2 0 BTBD17,CD300A,CD300C,CD300LB,DNAI2,GPR142,GPRC5C,KIF19,LINC00469,LOC400620,MGC16275,RPL38,TTYH2 ND02258,ND04274 esv268807 17 69195102 69195377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540951,essv2577866,essv2520865,essv2551851,essv2532425,essv2527377,essv2574750,essv2554754,essv2547976,essv2563196 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA11831,NA12761,NA18498,NA18504,NA18505,NA18522,NA19138 esv26857 17 69215043 69215635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13907 S 451 0 1 "" NA19129 nsv512501 17 69233102 69235385 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625102 S 1 0 1 "" 1 esv2601808 17 69233510 69235038 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272842 S 1 0 1 "" NA18507 nsv821019 17 69233956 69234625 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419958 S 1 0 1 "" NA10851 esv27087 17 69234006 69234625 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19680 S 451 0 18 "" NA11995,NA12776,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv2764 17 69234087 69234692 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25205 S 1 0 1 Single Asian sample YH "" YH esv28640 17 69246974 69247658 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17694 S 451 0 4 "" NA12749,NA18508,NA19225,NA19240 dgv999e1 17 69252400 69258719 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1352,essv7880 M 271 0 0 LINC00469 NA19140 nsv819477 17 69256798 69257556 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419078 S 2 0 1 LINC00469 AK1 esv2274431 17 69257010 69257435 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760908 S 1 0 1 LINC00469 NA18507 esv2422139 17 69257546 69259700 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107870,essv5107316,essv5004021,essv5122343,essv5015511,essv5055969,essv5147377,essv5138412,essv5041803,essv5133313,essv5128765,essv5160122,essv5116588,essv5120482,essv5136461,essv5066186,essv5133457,essv5074323,essv5065601,essv5115262,essv5138660,essv5016023,essv5091959,essv5031307,essv5139722,essv5020716,essv5071634,essv5006595,essv5112325,essv5136458,essv5037869,essv5020260,essv5026840,essv5054971,essv5111348,essv5147448,essv5117323,essv5150729,essv5160092,essv5128295,essv5066457,essv5150571,essv5153980,essv5078686,essv5009951 M 1184 0 45 LINC00469 NA18934,NA18935,NA19036,NA19118,NA19159,NA19174,NA19373,NA19380,NA19391,NA19404,NA19443,NA19701,NA19719,NA19819,NA19828,NA19904,NA20297,NA20337,NA21300,NA21312,NA21314,NA21320,NA21333,NA21339,NA21362,NA21367,NA21370,NA21440,NA21478,NA21480,NA21485,NA21487,NA21491,NA21517,NA21575,NA21596,NA21617,NA21620,NA21634,NA21636,NA21648,NA21686,NA21689,NA21719,NA21741 nsv528478 17 69257546 69259700 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705081 S 2026 0 1 LINC00469 nsv442425 17 69257574 69259206 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LINC00469 nsv527318 17 69320932 69345596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703743 S 2026 0 1 LINC00469 nsv527584 17 69323998 69324111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704045 S 2026 0 1 LINC00469 nsv522548 17 69323998 69326645 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705929 S 2026 1 0 LINC00469 dgv372n27 17 69333750 70193536 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457902,nsv457901 M 1557 2 0 BTBD17,C17orf77,CD300A,CD300C,CD300E,CD300LB,CD300LD,DNAI2,GPR142,GPRC5C,KIF19,LINC00469,MGC16275,RAB37,RPL38,TTYH2 NINDS_116,NINDS_131 nsv517569 17 69345596 70193536 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703507,nssv652394,nssv652821,nssv706041,nssv699066 M 2026 2 3 BTBD17,C17orf77,CD300A,CD300C,CD300E,CD300LB,CD300LD,DNAI2,GPR142,GPRC5C,KIF19,MGC16275,RAB37,RPL38,TTYH2 esv2751770 17 69345596 70223957 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983346,essv6983347,essv6986405,essv6983348,essv6983349 M 771 1 0 BTBD17,C17orf77,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,DNAI2,GPR142,GPRC5C,KIF19,MGC16275,RAB37,RPL38,TTYH2 BEC_641 nsv908740 17 69352820 69383617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559409 S 6533 1 0 "" MS23957 nsv2139 17 69365641 69399419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5673 S 9 1 0 "" NA19129 nsv833535 17 69419415 69634642 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453681 S 95 1 0 "" nsv509671 17 69489619 69539554 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621046 S 4 1 0 "" NA15510 nsv509672 17 69558184 69650397 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623721 S 4 1 0 "" NA18994 esv7308 17 69664345 69664404 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29749 S 1 1 0 "" SJK nsv509673 17 69674688 69936575 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623722,nssv623723 M 4 1 0 BTBD17,DNAI2,GPR142,KIF19,MGC16275,RPL38,TTYH2 NA18994 nsv833538 17 69684458 69900085 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453682 S 95 1 0 BTBD17,DNAI2,GPR142,KIF19,MGC16275,RPL38,TTYH2 esv2083699 17 69685185 69685605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4850793 S 1 0 1 "" NA18507 esv996520 17 69685307 69685401 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572066 S 3 0 1 "" HuRef esv1725701 17 69685402 69685497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642670 S 2 0 1 "" HuRef nsv112547 17 69685403 69685497 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131125 M 24 "" esv1330113 17 69706999 69706999 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831757 S 2 1 0 "" HuRef esv27340 17 69758002 69761257 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11926,esv13556 M 451 0 6 TTYH2 NA18505,NA18517,NA18909,NA19099,NA19147,NA19257 nsv833539 17 69760270 69945060 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453687,nssv1453686,nssv1453685,nssv1453684,nssv1453683 M 95 0 5 BTBD17,DNAI2,GPR142,GPRC5C,KIF19,TTYH2 esv33995 17 69768787 70239827 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95580 S 51 0 1 BTBD17,C17orf77,CD300A,CD300C,CD300E,CD300LB,CD300LD,CD300LF,DNAI2,GPR142,GPRC5C,KIF19,RAB37,TTYH2 21841 esv1978492 17 69809464 69809979 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519377 S 1 0 1 DNAI2 NA18507 esv1307217 17 69809643 69809843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002257 S 2 0 1 DNAI2 HuRef nsv908741 17 69843750 70005349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543735 S 6533 0 1 BTBD17,CD300A,GPR142,GPRC5C,KIF19 MS16153 esv29259 17 69846115 69847415 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15090 S 451 0 1 KIF19 NA12414 nsv908742 17 69856711 69881299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510981 S 6533 0 1 BTBD17,GPR142,KIF19 SP54988 esv1975690 17 69904520 69904966 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701931 S 1 0 1 "" NA18507 esv3857 17 69904647 69904987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26298 S 1 0 1 Single Asian sample YH "" YH esv1180538 17 69904717 69904851 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706642 S 2 0 1 "" HuRef nsv470600 17 69974616 70058713 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547488 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD300A,CD300C,CD300LB HGDP00546 esv29120 17 70011000 70019802 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17754 S 451 0 1 "" NA19129 esv2421329 17 70056258 70066802 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135417,essv5106647,essv5087669,essv5125459,essv5142510,essv5106016,essv5122833,essv5060611,essv5106988,essv5073466,essv5097892,essv5158399,essv5056148,essv5146795,essv5011052,essv5060388,essv5156047,essv5002115,essv5110756,essv5048704,essv5037957,essv5108496,essv5147327 M 1184 0 23 "" NA19307,NA19315,NA21300,NA21312,NA21313,NA21336,NA21405,NA21423,NA21425,NA21439,NA21447,NA21517,NA21575,NA21597,NA21613,NA21617,NA21635,NA21636,NA21647,NA21678,NA21716,NA21718,NA21741 esv2604772 17 70131219 70132308 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196587 S 1 1 0 CD300E NA18507 esv273080 17 70131770 70131885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580746 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271931 17 70131773 70132117 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514502,essv2519165,essv2517030,essv2514048,essv2518690,essv2516506,essv2516092,essv2516257,essv2516876,essv2519076,essv2513781,essv2513723 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11894,NA11931,NA12043,NA12045,NA12814,NA12873,NA12891,NA12892,NA19141,NA19143 nsv2140 17 70145000 70187875 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7347 S 9 0 1 RAB37 NA12156 esv4044 17 70240534 70241328 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26485 S 1 0 1 Single Asian sample YH RAB37 YH esv8799 17 70240569 70241200 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31240 S 1 0 1 RAB37 SJK esv2574609 17 70241034 70241467 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256108 S 1 1 0 RAB37 NA18507 nsv908743 17 70241829 70397218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530895 S 6533 0 1 FADS6,FDXR,GRIN2C,MIR3615,NAT9,RAB37,SLC9A3R1,TMEM104 MS10311 nsv523611 17 70263258 70275393 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699405 S 2026 0 1 SLC9A3R1 nsv457907 17 70285770 70326171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535001 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM104 HGDP00402 esv1000943 17 70299057 70299057 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572595 S 3 1 0 TMEM104 HuRef esv1113079 17 70299118 70299118 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227503 S 2 1 0 TMEM104 HuRef esv8400 17 70316790 70316878 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30841 S 1 1 0 TMEM104 SJK nsv518292 17 70318616 70490508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695723 S 2026 0 1 C17orf28,FADS6,FDXR,GRIN2C,OTOP2,OTOP3,TMEM104,USH1G nsv908744 17 70326171 70619865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573938 S 6533 0 1 ARMC7,ATP5H,C17orf28,CDR2L,FADS6,FDXR,GRIN2C,ICT1,KCTD2,OTOP2,OTOP3,SLC16A5,TMEM104,USH1G IS33504 dgv3253n71 17 70344245 70375194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908745,nsv908747,nsv908746 M 6533 0 3 FDXR,GRIN2C,TMEM104 SP54043,SP55019,SP55021 nsv833540 17 70346705 70527055 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453688,nssv1453689 M 95 0 2 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,ICT1,OTOP2,OTOP3,TMEM104,USH1G nsv519902 17 70348607 70362728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659423,nssv680704 M 2026 0 2 GRIN2C dgv3254n71 17 70358800 70521039 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908749,nsv908748 M 6533 0 2 C17orf28,CDR2L,FADS6,FDXR,GRIN2C,ICT1,OTOP2,OTOP3,USH1G IS33684,IS39233 nsv457909 17 70397218 70490508 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535003 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf28,FADS6,OTOP2,OTOP3,USH1G HGDP01349 nsv470601 17 70438718 70490508 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547489 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf28,OTOP2,OTOP3 HGDP00550 dgv3255n71 17 70438718 70518591 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908751,nsv908750,nsv908754 M 6533 0 3 C17orf28,CDR2L,OTOP2,OTOP3 MS10311,MS18276,SP54956 nsv908752 17 70452076 70463612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510982 S 6533 0 1 C17orf28,OTOP3 SP54988 nsv908753 17 70452076 70598561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586025 S 6533 0 1 ATP5H,C17orf28,CDR2L,ICT1,KCTD2,OTOP3,SLC16A5 IS37646 nsv819301 17 70458918 70459154 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419414 S 2 1 0 C17orf28 AK1 nsv908755 17 70472719 70513281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510983 S 6533 0 1 C17orf28,CDR2L SP54988 esv2566082 17 70551004 70552634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320827 S 1 0 1 ATP5H NA18507 esv1720628 17 70551894 70552211 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071010 S 2 0 1 ATP5H HuRef nsv112456 17 70551895 70552211 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131034 M 24 ATP5H nsv908756 17 70589660 70732594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590144 S 6533 0 1 ARMC7,HN1,NT5C,NUP85,SLC16A5,SUMO2 IS38463 nsv470602 17 70598561 70715732 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547491 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARMC7,HN1,NT5C,NUP85,SLC16A5,SUMO2 HGDP00326 nsv908757 17 70610348 70668091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510217 S 6533 0 1 ARMC7,HN1,NT5C,SLC16A5 SP54956 nsv908758 17 70621739 70805947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586026 S 6533 0 1 ARMC7,GGA3,HN1,LOC100287042,MIF4GD,MRPS7,NT5C,NUP85,SLC25A19,SUMO2 IS37646 nsv908759 17 70668147 70689039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514725 S 6533 0 1 SUMO2 SP56047 nsv2141 17 70680597 70704486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5674 S 9 0 1 SUMO2 NA19129 esv2327618 17 70702216 70702800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786756 S 1 0 1 "" NA18507 nsv908760 17 70757615 70791219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510218 S 6533 0 1 GGA3,LOC100287042,MIF4GD,MRPS7,SLC25A19 SP54956 nsv510727 17 70767892 70839132 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622726 S 4 0 1 GGA3,GRB2,LOC100287042,MIF4GD,MRPS7,SLC25A19 NA18994 nsv908761 17 70769904 70956242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553091 S 6533 0 1 GGA3,GRB2,LOC100287042,MIF4GD,MIR3678,MRPS7,SLC25A19 MS19721 nsv833541 17 70804880 70967699 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453693,nssv1453692,nssv1453691,nssv1453690 M 95 0 4 GRB2,KIAA0195,MIR3678 nsv111918 17 70806063 70806063 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130496 M 24 "" esv1727562 17 70806071 70806071 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350232 S 2 1 0 "" HuRef nsv111943 17 70824627 70827123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130521 M 24 GRB2 nsv516133 17 70928409 71270899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701945,nssv657812,nssv670959,nssv666418,nssv663338,nssv685418,nssv669670,nssv656029,nssv694444,nssv682093,nssv697018,nssv687740,nssv654997 M 2026 0 13 C17orf109,C17orf110,CASKIN2,GALK1,ITGB4,KIAA0195,LLGL2,MYO15B,RECQL5,SAP30BP,TSEN54 nsv908762 17 70930457 71063780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546954 S 6533 0 1 CASKIN2,KIAA0195,LLGL2,TSEN54 MS17208 esv2552921 17 70938634 70939124 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307487 S 1 1 0 "" NA18507 nsv513481 17 70938694 70939883 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625887 S 1 1 0 "" 1 esv2474219 17 70944028 70944689 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182725 S 1 1 0 "" NA18507 nsv833542 17 70948719 71052669 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453694 S 95 0 1 CASKIN2,KIAA0195,LLGL2,TSEN54 nsv908763 17 70956242 71074472 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586372 S 6533 1 0 CASKIN2,KIAA0195,LLGL2,TSEN54 IS37753 dgv3256n71 17 70956242 71199090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908771,nsv908764,nsv908770 M 6533 0 4 C17orf109,C17orf110,CASKIN2,KIAA0195,LLGL2,MYO15B,RECQL5,SAP30BP,TSEN54 IS32841,IS33684,IS37646,MS16153 nsv470603 17 70975889 71249042 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547498,nssv547494,nssv547495,nssv547497,nssv547499,nssv547492,nssv547493,nssv547496 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf109,C17orf110,CASKIN2,ITGB4,KIAA0195,LLGL2,MYO15B,RECQL5,SAP30BP,TSEN54 HGDP00302,HGDP00313,HGDP00546,HGDP00550,HGDP00657,HGDP00825,HGDP00978 dgv3257n71 17 70980029 71105169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908767,nsv908769,nsv908768,nsv908766,nsv908765 M 6533 0 5 CASKIN2,KIAA0195,LLGL2,MYO15B,TSEN54 IS34005,IS38403,IS40230,IS40799,IS41243 dgv3258n71 17 71017172 71042832 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908776,nsv908772,nsv908773,nsv908774 M 6533 0 8 CASKIN2,LLGL2,TSEN54 SP54043,SP54593,SP54684,SP54725,SP54937,SP54988,SP55019,SP81010 nsv908775 17 71020011 71049819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510219 S 6533 0 1 CASKIN2,LLGL2,TSEN54 SP54956 nsv828102 17 71024857 71049960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435487 S 31 0 1 LLGL2,TSEN54 NA18942 nsv833543 17 71025280 71200424 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453695 S 95 0 1 C17orf109,C17orf110,LLGL2,MYO15B,RECQL5,SAP30BP,TSEN54 esv273022 17 71034530 71035162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581192 S 7 1 0 Samples from several populations that are part of the HapMap project. LLGL2 NA19240 nsv908777 17 71053605 71098863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572697 S 6533 0 1 LLGL2,MYO15B IS33162 dgv3259n71 17 71053605 71153309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908781,nsv908778,nsv908782,nsv908780 M 6533 0 4 C17orf109,LLGL2,MYO15B,RECQL5 IS32888,IS33248,IS34304,MS18276 dgv3260n71 17 71053605 71199090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908779,nsv908793 M 6533 0 4 C17orf109,C17orf110,LLGL2,MYO15B,RECQL5,SAP30BP IS41634,MS10123,MS13770,MS17208 esv3480 17 71054225 71054640 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25921 S 1 0 1 Single Asian sample YH LLGL2 YH esv22892 17 71054238 71054808 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10128 S 451 0 8 LLGL2 NA07037,NA12044,NA12239,NA12828,NA18505,NA19099,NA19114,NA19257 nsv820595 17 71054238 71054808 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419960 S 1 0 1 LLGL2 NA10851 esv1007606 17 71054252 71054467 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583941 S 3 0 1 LLGL2 HuRef esv2286878 17 71066362 71066751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999909 S 1 0 1 LLGL2 NA18507 esv1010854 17 71066483 71066562 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583616 S 3 0 1 LLGL2 HuRef nsv908783 17 71067500 71093194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500118 S 6533 0 1 LLGL2 SP50159 dgv3261n71 17 71076766 71102780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908787,nsv908784 M 6533 0 2 LLGL2,MYO15B IS38176,SP54956 dgv3262n71 17 71076766 71153309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908791,nsv908796,nsv908792,nsv908785 M 6533 0 5 C17orf109,LLGL2,MYO15B,RECQL5 IS32737,IS33178,IS33504,IS33601,IS35007 nsv908786 17 71077183 71093194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514308 S 6533 0 1 LLGL2 SP55992 dgv3263n71 17 71083828 71105169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908788,nsv908789 M 6533 0 2 MYO15B IS35484,SP54043 nsv908790 17 71083828 71125952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564323 S 6533 0 1 MYO15B IS30197 nsv908794 17 71083828 71257965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592382 S 6533 0 1 C17orf109,C17orf110,ITGB4,MYO15B,RECQL5,SAP30BP IS39233 dgv3264n71 17 71083828 71453550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908795,nsv908799 M 6533 0 2 ACOX1,C17orf109,C17orf110,FBF1,GALK1,H3F3B,ITGB4,MIR4738,MRPL38,MYO15B,RECQL5,SAP30BP,TRIM47,TRIM65,UNC13D,UNK,WBP2 IS32322,MS10311 dgv373n27 17 71093194 71112486 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457911,nsv457910 M 1557 2 0 MYO15B HGDP00984,HGDP01081 nsv470604 17 71093194 71112486 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547500,nssv547502 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYO15B HGDP00984,HGDP01081 dgv3265n71 17 71097953 71128174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908797,nsv908798 M 6533 0 2 MYO15B IS39417,SP54782 nsv833544 17 71103217 71279315 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453697,nssv1453696,nssv1453698 M 95 0 3 C17orf109,C17orf110,GALK1,ITGB4,MYO15B,RECQL5,SAP30BP nsv908800 17 71120734 71153309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500416 S 6533 0 1 C17orf109,MYO15B,RECQL5 SP50159 dgv3266n71 17 71221964 71257205 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908801,nsv908802 M 6533 0 2 ITGB4 SP50159,SP54782 nsv908803 17 71228965 71246406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509036 S 6533 1 0 ITGB4 SP54620 nsv817772 17 71232322 71257965 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417319 S 112 0 1 ITGB4 NA18608 nsv908804 17 71232751 71383062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595428 S 6533 0 1 GALK1,H3F3B,ITGB4,MIR4738,TRIM47,UNC13D,UNK,WBP2 IS40230 dgv3267n71 17 71232751 71453550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908810,nsv908805,nsv908816,nsv908807,nsv908808,nsv908815,nsv908818,nsv908817 M 6533 0 9 ACOX1,FBF1,GALK1,H3F3B,ITGB4,MIR4738,MRPL38,TRIM47,TRIM65,UNC13D,UNK,WBP2 IS32737,IS32841,IS33504,IS34235,IS39417,IS41894,MS16153,MS18276,MS21124 dgv3268n71 17 71244117 71356343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908814,nsv908813,nsv908806 M 6533 0 3 GALK1,H3F3B,ITGB4,MIR4738,UNC13D,UNK,WBP2 IS30369,IS38176,MS10698 nsv833545 17 71245816 71453607 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453699 S 95 1 0 ACOX1,FBF1,GALK1,H3F3B,ITGB4,MIR4738,MRPL38,TRIM47,TRIM65,UNC13D,UNK,WBP2 dgv3269n71 17 71249042 71284595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908811,nsv908809 M 6533 0 2 GALK1,H3F3B,ITGB4 SP54956,SP54988 nsv908812 17 71257965 71274157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508999 S 6533 0 1 GALK1,ITGB4 SP54725 nsv470606 17 71257965 71356343 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547503 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GALK1,H3F3B,ITGB4,MIR4738,UNC13D,UNK,WBP2 HGDP01412 nsv908819 17 71263226 71279032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502292 S 6533 0 1 GALK1,ITGB4 SP51109 esv260011 17 71274527 71275011 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396052,essv2395499,essv2400846,essv2397191,essv2400601,essv2397857,essv2395474,essv2395125,essv2395822,essv2399656 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18563,NA18564,NA18572,NA18576,NA18577,NA18948,NA18953,NA18961,NA18964 nsv908820 17 71297313 71429859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580935 S 6533 0 1 FBF1,MRPL38,TRIM47,TRIM65,UNC13D,UNK,WBP2 IS35484 nsv510728 17 71309198 71397649 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622727 S 4 0 1 TRIM47,TRIM65,UNC13D,UNK,WBP2 NA18994 nsv908821 17 71356343 71465452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586028 S 6533 0 1 ACOX1,FBF1,MRPL38,TRIM47,TRIM65,WBP2 IS37646 nsv908822 17 71377252 71416345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510222 S 6533 0 1 MRPL38,TRIM47,TRIM65 SP54956 nsv908823 17 71385251 71408641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510986 S 6533 0 1 MRPL38,TRIM47,TRIM65 SP54988 esv22840 17 71387046 71390764 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15297 S 451 0 3 "" NA18517,NA19108,NA19240 nsv908824 17 71471452 71674592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546956 S 6533 0 1 ACOX1,C17orf106-CDK3,CDK3,EVPL,EXOC7,FOXJ1,GALR2,LOC100507218,RNF157,SRP68,TEN1,ZACN MS17208 nsv908825 17 71481548 71551888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530898,nssv1575172,nssv1586029 M 6533 0 3 ACOX1,C17orf106-CDK3,CDK3,EVPL,SRP68,TEN1 IS33684,IS37646,MS10311 nsv908826 17 71505235 71551888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549933 S 6533 0 1 C17orf106-CDK3,CDK3,EVPL,SRP68,TEN1 MS18276 nsv833546 17 71510753 71694648 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453700 S 95 0 1 C17orf106-CDK3,CDK3,EVPL,EXOC7,FOXJ1,GALR2,LOC100507218,RNF157,SRP68,ZACN dgv3270n71 17 71511227 71658328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908827,nsv908828 M 6533 0 2 C17orf106-CDK3,CDK3,EVPL,EXOC7,FOXJ1,GALR2,LOC100507218,RNF157,SRP68,ZACN IS33504,MS16153 nsv817774 17 71514320 71520806 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417337 S 112 0 1 EVPL NA18609 esv2588678 17 71557727 71558775 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246995 S 1 1 0 SRP68 NA18507 esv270157 17 71558386 71558687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565688,essv2576082,essv2521041,essv2542337,essv2571048,essv2568079,essv2545576,essv2570517,essv2548456,essv2552145,essv2529361,essv2577876,essv2576349,essv2537392,essv2528181,essv2540139,essv2520874,essv2557465,essv2551893,essv2562681,essv2569621,essv2578657,essv2536988,essv2539077,essv2569819,essv2527388,essv2561597,essv2544975,essv2523605,essv2552890,essv2541297,essv2538462,essv2565203,essv2534934,essv2559932,essv2521952,essv2531226,essv2532846,essv2567740,essv2567324,essv2570241,essv2553316,essv2572358,essv2566942,essv2568925,essv2543682,essv2556348,essv2539365,essv2534039,essv2578196,essv2573117,essv2533759,essv2555785,essv2567035,essv2529845,essv2556002,essv2534245,essv2522489,essv2531604,essv2543251,essv2572060,essv2525564,essv2526886,essv2575667,essv2575172,essv2538572,essv2526459,essv2560525,essv2524063,essv2574938,essv2572659,essv2568696,essv2560216,essv2571250,essv2545963,essv2574232,essv2548669,essv2533305,essv2554537,essv2547864,essv2525158,essv2557978 M 157 82 0 Samples from several populations that are part of the HapMap project. SRP68 NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11894,NA11919,NA11993,NA11995,NA12003,NA12044,NA12045,NA12489,NA12749,NA12761,NA12814,NA12878,NA12891,NA18489,NA18498,NA18499,NA18504,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18558,NA18561,NA18570,NA18571,NA18573,NA18576,NA18577,NA18582,NA18593,NA18605,NA18609,NA18853,NA18861,NA18870,NA18871,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18949,NA18956,NA18959,NA18960,NA18961,NA18965,NA18973,NA18980,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240 esv273820 17 71558387 71558653 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582004,essv2582395,essv2583995,essv2584454,essv2583772 M 7 5 0 Samples from several populations that are part of the HapMap project. SRP68 NA12878,NA12891,NA19238,NA19239,NA19240 nsv509674 17 71559873 71614112 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621047,nssv623724,nssv619719 M 4 3 0 EXOC7,GALR2,SRP68,ZACN NA10860,NA15510,NA18994 nsv2142 17 71577861 71595478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4289 S 9 1 0 EXOC7,GALR2,SRP68,ZACN NA12878 esv989375 17 71580284 71581523 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563484 S 3 1 0 "" HuRef nsv828103 17 71614539 71626972 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421675 S 31 1 0 "" NA18969 esv259852 17 71631907 71632184 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398382,essv2394820,essv2398040,essv2399690,essv2397262 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19114,NA19147,NA19210,NA19225 nsv112544 17 71632001 71632001 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131122 M 24 "" nsv2144 17 71649942 71675911 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1384 S 9 1 0 LOC100507218,RNF157 NA19240 nsv833547 17 71716175 71906903 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453702,nssv1453704,nssv1453701,nssv1453703 M 95 0 4 FAM100B,PRPSAP1,QRICH2,RNF157,SPHK1,UBE2O dgv3271n71 17 71738055 71781664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908830,nsv908829 M 6533 0 3 FAM100B,RNF157 SP54591,SP54956,SP55021 nsv828104 17 71742974 71779033 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435488 S 31 0 1 FAM100B,RNF157 NA18942 esv26992 17 71747388 71748684 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13947 S 451 0 1 RNF157 NA19129 esv1009926 17 71754337 71764222 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565579 S 3 0 1 "" HuRef esv2430837 17 71791176 71793050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211067 S 1 0 1 QRICH2 NA18507 esv21573 17 71798997 71801487 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15945 S 451 0 1 QRICH2 NA19240 nsv512502 17 71806217 71809535 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625103 S 1 0 1 QRICH2 1 esv2363913 17 71817800 71818215 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763387 S 1 0 1 "" NA18507 nsv527075 17 71822938 71842233 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703454 S 2026 1 0 PRPSAP1 nsv518967 17 71822938 71848140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694293 S 2026 0 1 PRPSAP1 esv24990 17 71846782 71848269 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16876 S 451 0 1 PRPSAP1 NA18861 esv994582 17 71869834 71878096 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563634 S 3 0 1 "" HuRef nsv511596 17 71870138 71877870 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626225 S 1 0 1 "" 1 nsv2145 17 71870781 71916016 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5675 S 9 0 1 SPHK1,UBE2O NA19129 nsv828105 17 71872998 71876676 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439361 S 31 0 1 "" NA18973 nsv833549 17 71873120 72035567 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453705 S 95 1 0 AANAT,CYGB,PRCD,RHBDF2,SPHK1,UBE2O esv2474617 17 71873200 71877502 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266479 S 1 0 1 "" NA18507 esv21830 17 71873457 71876602 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18083 S 451 0 7 "" NA12414,NA15510,NA18502,NA18907,NA19099,NA19129,NA19225 esv1953262 17 71873674 71877089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672046 S 1 0 1 "" NA18507 nsv512503 17 71873801 71876949 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625104 S 1 0 1 "" 1 esv8203 17 71873831 71876924 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30644 S 1 0 1 "" SJK nsv828106 17 71874732 71876463 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430982 S 31 0 1 "" AK16 esv23649 17 71891796 71893826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12831 S 451 0 1 SPHK1 NA07045 nsv525148 17 71988773 72030895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701218 S 2026 0 1 RHBDF2 nsv908831 17 71997938 72069078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510224 S 6533 0 1 CYGB,LOC100507246,PRCD,RHBDF2,SNORD1B,SNORD1C SP54956 esv1597045 17 72034571 72034571 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773237 S 2 1 0 "" HuRef nsv828107 17 72056534 72074711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435489 S 31 0 1 LOC100507246,SNORD1A,SNORD1B,SNORD1C,ST6GALNAC2 NA18942 esv28008 17 72075917 72077600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18237 S 451 0 2 ST6GALNAC2 NA18505,NA19108 nsv908832 17 72103429 72130466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511993 S 6533 0 1 "" SP55223 nsv520706 17 72105498 72108559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694081 S 2026 0 1 "" nsv518385 17 72105498 72168755 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695816 S 2026 1 0 ST6GALNAC1 nsv820158 17 72135339 72136804 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419264 S 2 1 0 ST6GALNAC1 AK1 esv269901 17 72139418 72139867 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511149 S 157 1 0 Samples from several populations that are part of the HapMap project. ST6GALNAC1 NA18944 nsv528889 17 72154009 72173649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705573 S 2026 0 1 "" nsv908833 17 72208981 72251995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510225 S 6533 0 1 JMJD6,METTL23,MFSD11,MIR636,MXRA7,SRSF2 SP54956 nsv111859 17 72210537 72210537 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130437 M 24 MXRA7 nsv828109 17 72212976 72214362 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430352 S 31 1 0 MXRA7 NA18968 esv2426649 17 72213134 72214675 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187638 S 1 0 1 MXRA7 NA18507 esv2190268 17 72213760 72214272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525589 S 1 0 1 MXRA7 NA18507 esv28006 17 72214376 72228358 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9750 S 451 1 0 JMJD6,MXRA7 NA12044 nsv833550 17 72219715 72393967 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453707,nssv1453706 M 95 0 2 JMJD6,METTL23,MFSD11,MGAT5B,MIR636,SRSF2 nsv828110 17 72244404 72245313 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429468 S 31 1 0 MFSD11,SRSF2 AK12 nsv828111 17 72294928 72299841 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430363,nssv1430221,nssv1436231 M 31 0 3 "" AK14,NA18566,NA18968 esv26365 17 72295131 72301707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16688,esv12395 M 451 0 5 "" NA11894,NA12006,NA12489,NA18916,NA19147 nsv457912 17 72345915 72388223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535006 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MGAT5B HGDP00846 dgv3272n71 17 72374712 72429448 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908836,nsv908835,nsv908834 M 6533 3 0 MGAT5B MS17067,MS17872,MS23142 nsv908837 17 72402594 72449676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534754 S 6533 0 1 MGAT5B MS11726 dgv3273n71 17 72423370 72475855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908839,nsv908838 M 6533 0 2 MGAT5B IS33162,MS10311 nsv510443 17 72428795 72434795 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621448,nssv622273,nssv618431 M 4 0 3 MGAT5B CHM,NA10860,NA15510 esv2546238 17 72432712 72433137 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295644 S 1 1 0 MGAT5B NA18507 nsv521914 17 72457486 72457881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694685 S 2026 0 1 MGAT5B nsv524066 17 72457486 72461821 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699934 S 2026 0 1 MGAT5B nsv512504 17 72496938 72499850 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625105 S 1 0 1 "" 1 esv2472143 17 72498389 72500073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215596 S 1 0 1 "" NA18507 esv2101090 17 72498925 72499612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575032 S 1 0 1 "" NA18507 esv4714 17 72499064 72499556 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27155 S 1 0 1 Single Asian sample YH "" YH nsv112479 17 72499116 72499434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131057 M 24 "" esv2571171 17 72499121 72499439 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180013 S 1 0 1 "" NA18507 esv1394365 17 72499125 72499444 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987051 S 2 0 1 "" HuRef esv6769 17 72499128 72499463 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29210 S 1 0 1 "" SJK esv996364 17 72513453 72514625 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564227 S 3 1 0 "" HuRef esv6862 17 72533690 72533775 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29303 S 1 1 0 "" SJK nsv2146 17 72550200 72581765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5676 S 9 1 0 "" NA19129 nsv908840 17 72551796 72570920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575874 S 6533 0 1 "" IS33832 nsv908841 17 72557578 72581501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543739 S 6533 0 1 "" MS16153 esv34174 17 72606512 72865653 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SEC14L1,SEPT9 esv2635212 17 72610846 72611433 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206696 S 1 1 0 SEC14L1 NA18507 nsv513482 17 72611307 72611426 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625888 S 1 1 0 SEC14L1 1 nsv2147 17 72628843 72663960 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1385 S 9 1 0 SEC14L1 NA19240 dgv1000e1 17 72638503 72807003 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13709,esv159 M 271 0 0 SEC14L1,SEPT9 NA19119 nsv833551 17 72646598 72817361 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453708 S 95 1 0 SEC14L1,SEPT9 nsv908842 17 72694717 72853369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546957 S 6533 0 1 SEC14L1,SEPT9 MS17208 nsv908843 17 72711627 72772685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543740 S 6533 0 1 SEC14L1 MS16153 nsv2148 17 72718292 72735763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5677,nssv9327 M 9 2 0 SEC14L1 NA18517,NA19129 esv6153 17 72723408 72724123 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28594 S 1 0 1 SEC14L1 SJK esv2050948 17 72723606 72723978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4718562 S 1 0 1 SEC14L1 NA18507 nsv9588 17 72726533 72745448 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27242,nssv25693 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA19144 esv26381 17 72727679 72747906 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21098 S 451 3 0 "" NA18517,NA19114,NA19129 esv2421477 17 72728774 72743351 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156771,essv5021307,essv5021750,essv5044105,essv5161001,essv5091340,essv5098713,essv5062991,essv5067819,essv5116758,essv5147690,essv5046110,essv5041975,essv5118218,essv5149837,essv5049885,essv5077381,essv5080340,essv5069340,essv5065953 M 1184 20 0 "" NA18501,NA18517,NA19028,NA19114,NA19115,NA19129,NA19143,NA19144,NA19181,NA19183,NA19226,NA19313,NA19463,NA19708,NA19712,NA20282,NA20301,NA20302,NA20332,NA20333 nsv442426 17 72728774 72743351 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv457913 17 72729603 72762070 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535007 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00909 nsv833552 17 72734233 72921574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453709 S 95 0 1 MIR4316,SEPT9 nsv2149 17 72742829 72753221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5678 S 9 1 0 "" NA19129 esv2241276 17 72747348 72748073 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580674 S 1 0 1 "" NA18507 esv1080801 17 72747559 72747901 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629032 S 2 0 1 "" HuRef esv2341835 17 72753457 72753986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530408 S 1 0 1 "" NA18507 esv4843 17 72753620 72753902 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27284 S 1 0 1 Single Asian sample YH "" YH esv1416221 17 72753648 72753816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988056 S 2 0 1 "" HuRef esv28924 17 72760200 72762153 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15776,esv21170 M 451 3 0 "" NA11995,NA19099,NA19129 nsv9589 17 72766351 72770203 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23482 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 esv992724 17 72775601 72789214 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563686 S 3 0 1 SEPT9 HuRef esv1001473 17 72776092 72778865 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587250 S 3 0 1 "" HuRef esv1007977 17 72777229 72784171 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586545 S 3 0 1 "" HuRef esv29532 17 72777229 72784171 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18657 S 451 0 1 "" NA12287 nsv517339 17 72777846 72790904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671000,nssv676147,nssv683433,nssv680553,nssv651774,nssv678375,nssv682199 M 2026 0 7 SEPT9 nsv908844 17 72781683 72833493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575173 S 6533 0 1 SEPT9 IS33684 nsv908845 17 72781683 72858526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580936 S 6533 0 1 SEPT9 IS35484 nsv908846 17 72818116 72906286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534755 S 6533 0 1 MIR4316,SEPT9 MS11726 nsv457914 17 72820946 72856622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535008 S 1557 0 1 SEPT9 1782681080_A nsv525375 17 72842515 72844541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701496 S 2026 0 1 SEPT9 nsv457915 17 72842515 72861556 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535009 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SEPT9 HGDP01173 nsv525851 17 72842515 72862467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702045 S 2026 0 1 SEPT9 esv1080795 17 72843170 72843460 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143467 S 2 0 1 SEPT9 HuRef nsv908847 17 72848875 72862467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503493 S 6533 0 1 SEPT9 SP52064 nsv908848 17 72853369 73025007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543741 S 6533 0 1 MIR4316,SEPT9 MS16153 nsv111673 17 72859930 72863658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130251 M 24 SEPT9 nsv908849 17 72861690 72911904 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538721 S 6533 0 1 MIR4316,SEPT9 MS13770 nsv513483 17 72864268 72864595 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625890 S 1 1 0 SEPT9 1 nsv908850 17 72870788 72891034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592383 S 6533 0 1 SEPT9 IS39233 dgv3274n71 17 72870788 72906286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908854,nsv908851,nsv908852 M 6533 0 3 MIR4316,SEPT9 IS33248,IS33504,SP54956 nsv908853 17 72877835 72891034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510987 S 6533 0 1 SEPT9 SP54988 esv34184 17 72878858 72903592 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SEPT9 nsv908855 17 72911904 73025007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546958,nssv1549934 M 6533 0 2 SEPT9 MS17208,MS18276 nsv2150 17 72918959 72952439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7348 S 9 1 0 SEPT9 NA12156 esv274097 17 72937537 72937622 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581549 S 7 1 0 Samples from several populations that are part of the HapMap project. SEPT9 NA12878 esv2378475 17 72995112 72995612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965245 S 1 0 1 SEPT9 NA18507 esv3114 17 72995173 72995585 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25555 S 1 0 1 Single Asian sample YH SEPT9 YH esv996321 17 72995260 72995428 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573448 S 3 0 1 SEPT9 HuRef esv1440775 17 72995313 72995482 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116464 S 2 0 1 SEPT9 HuRef esv1001835 17 73000526 73001251 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586768 S 3 0 1 SEPT9 HuRef nsv526477 17 73006992 73008055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702784 S 2026 0 1 SEPT9 nsv833553 17 73020577 73183184 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453710 S 95 1 0 LOC100507351 esv1710928 17 73030207 73030207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3789845 S 2 1 0 "" HuRef nsv510729 17 73031788 73132251 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622728 S 4 0 1 LOC100507351 NA18994 nsv908856 17 73052140 73081651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546959 S 6533 0 1 LOC100507351 MS17208 esv28404 17 73066141 73070621 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18612,esv16840 M 451 8 0 LOC100507351 NA07045,NA12878,NA18861,NA18907,NA19129,NA19190,NA19240,NA19257 nsv512505 17 73068818 73070338 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625106 S 1 0 1 LOC100507351 1 esv1592741 17 73069379 73069485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989846 S 2 0 1 LOC100507351 HuRef esv1104700 17 73070099 73070099 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136364 S 2 1 0 LOC100507351 HuRef esv2348759 17 73070261 73070616 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641311 S 1 0 1 LOC100507351 NA18507 nsv2151 17 73093099 73128014 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4290 S 9 1 0 "" NA12878 nsv908857 17 73148296 73179375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584051 S 6533 0 1 "" IS36787 nsv520514 17 73153511 73157586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674605,nssv671966,nssv676657 M 2026 0 3 "" esv29811 17 73184489 73185052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9984 S 451 0 2 "" NA18916,NA19240 esv25589 17 73194527 73195214 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14471 S 451 1 0 "" NA12776 esv1386200 17 73197072 73197134 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199455 S 2 0 1 "" HuRef nsv2152 17 73219368 73252478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5679 S 9 1 0 "" NA19129 nsv519159 17 73262825 73264564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696639 S 2026 0 1 "" nsv516090 17 73264500 73264564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677151,nssv666125,nssv659480,nssv686950,nssv679498 M 2026 0 5 "" esv25522 17 73266886 73268526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19506 S 451 0 5 "" NA07037,NA12489,NA15510,NA18523,NA19240 esv1088167 17 73267514 73267944 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604982 S 2 0 1 "" HuRef esv989839 17 73279151 73282045 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565668 S 3 0 1 "" HuRef nsv908858 17 73286286 73357711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527442 S 6533 1 0 "" SP58416 esv5423 17 73336473 73336921 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27864 S 1 0 1 Single Asian sample YH "" YH nsv908859 17 73350621 73410365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546960 S 6533 0 1 FLJ45079 MS17208 nsv518722 17 73370128 73373248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696172 S 2026 0 1 "" esv2476368 17 73392706 73393732 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291525 S 1 1 0 "" NA18507 esv2582248 17 73447122 73448092 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314398 S 1 1 0 "" NA18507 esv267930 17 73447564 73447901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517510,essv2517010,essv2514032,essv2518560,essv2518138,essv2517729,essv2519049 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931,NA12043,NA12287,NA12872,NA12878,NA19141 esv273214 17 73447564 73447901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581395 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv828112 17 73482537 73485707 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434055 S 31 0 1 "" NA18526 nsv833554 17 73485102 73659590 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453711,nssv1453712 M 95 1 1 C17orf99,LOC100131096,TMC6,TMC8,TNRC6C esv2436489 17 73499188 73500918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184896 S 1 0 1 "" NA18507 esv2080470 17 73499689 73500404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854546 S 1 0 1 "" NA18507 esv4352 17 73499848 73500324 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26793 S 1 0 1 Single Asian sample YH "" YH nsv112454 17 73499878 73500192 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131032 M 24 "" esv6978 17 73499894 73500216 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29419 S 1 0 1 "" SJK nsv908860 17 73529687 73694638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574626 S 6533 0 1 C17orf99,LOC100131096,SYNGR2,TK1,TMC6,TMC8,TNRC6C IS33601 dgv3275n71 17 73559207 73662981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908861,nsv908862 M 6533 0 3 C17orf99,LOC100131096,TMC6,TMC8,TNRC6C IS35566,IS38176,IS41634 nsv2153 17 73574296 73587248 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7350 S 9 0 1 TNRC6C NA12156 dgv3276n71 17 73598773 73662981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908868,nsv908863,nsv908864,nsv908865 M 6533 0 4 C17orf99,LOC100131096,TMC6,TMC8,TNRC6C IS32322,IS37172,IS39417,MS15835 dgv3277n71 17 73605461 73700348 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908866,nsv908869 M 6533 0 2 AFMID,C17orf99,LOC100131096,SYNGR2,TK1,TMC6,TMC8,TNRC6C IS33684,MS10311 dgv3278n71 17 73605461 73759138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908870,nsv908867 M 6533 0 2 AFMID,BIRC5,C17orf99,LOC100131096,SYNGR2,TK1,TMC6,TMC8,TMEM235,TNRC6C MS17208,SP54956 nsv908871 17 73622798 73654604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510988 S 6533 0 1 C17orf99,TMC6,TMC8 SP54988 nsv515500 17 73628956 73647007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658972,nssv653335 M 2026 0 2 TMC6,TMC8 nsv470607 17 73628956 73685017 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547506,nssv547504,nssv547505 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C17orf99,SYNGR2,TK1,TMC6,TMC8 HGDP00550,HGDP00661,HGDP00825 nsv908872 17 73647007 73678988 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561934 S 6533 1 0 C17orf99,SYNGR2,TMC8 MS25300 dgv3279n71 17 73665754 73700348 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908874,nsv908875,nsv908873 M 6533 0 3 AFMID,C17orf99,SYNGR2,TK1 IS33504,IS39233,IS40799 nsv524306 17 73691125 73788369 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700207 S 2026 1 0 AFMID,BIRC5,TK1,TMEM235 nsv908876 17 73706897 73808867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578164 S 6533 1 0 AFMID,BIRC5,TMEM235 IS34698 nsv908877 17 73734183 73773839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543742,nssv1575175 M 6533 0 2 TMEM235 IS33684,MS16153 nsv470608 17 73740166 73778456 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547507,nssv547508 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM235 HGDP00661,HGDP00978 nsv908878 17 73754653 73799302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530901 S 6533 0 1 "" MS10311 nsv908879 17 73778456 73808867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579027 S 6533 0 1 "" IS35007 nsv516327 17 73788369 73808867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667596,nssv661385,nssv684100,nssv674977,nssv705809,nssv682263,nssv693335 M 2026 0 7 "" nsv512506 17 73793806 73795683 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625107 S 1 0 1 "" 1 nsv820642 17 73794003 73794755 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419961 S 1 0 1 "" NA10851 nsv828113 17 73794003 73794755 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438498 S 31 0 1 "" NA18951 esv29289 17 73794122 73794572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14179 S 451 0 5 "" NA12239,NA12414,NA12749,NA18505,NA18508 nsv528790 17 73799302 73817208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705460 S 2026 0 1 "" nsv908880 17 73817228 73872133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510228 S 6533 0 1 SOCS3 SP54956 nsv908881 17 73819299 74017503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546962 S 6533 0 1 DNAH17,PGS1,SOCS3 MS17208 nsv908882 17 73844676 73872133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510989 S 6533 0 1 SOCS3 SP54988 nsv513484 17 73858151 73859255 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625891 S 1 1 0 "" 1 esv2465507 17 73858333 73859045 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331028 S 1 1 0 "" NA18507 esv272148 17 73858877 73858962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514018,essv2515093,essv2517896,essv2516099,essv2514235,essv2517735,essv2518380 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12812,NA12872,NA12873,NA12874,NA12878,NA19240 esv273273 17 73858877 73858962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581476,essv2581257 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv833555 17 73864143 73968946 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453724,nssv1453744,nssv1453743,nssv1453742,nssv1453736,nssv1453745,nssv1453730,nssv1453749,nssv1453731,nssv1453733,nssv1453735,nssv1453732,nssv1453723,nssv1453748,nssv1453722,nssv1453747,nssv1453721,nssv1453746,nssv1453726,nssv1453725,nssv1453741,nssv1453729,nssv1453720,nssv1453738,nssv1453737,nssv1453734,nssv1453727,nssv1453740,nssv1453719,nssv1453739,nssv1453728,nssv1453718,nssv1453713,nssv1453715,nssv1453714,nssv1453717,nssv1453716 M 95 0 37 DNAH17,PGS1,SOCS3 esv1002451 17 73900920 73910431 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564600 S 3 0 1 PGS1 HuRef nsv820049 17 73906963 73908180 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419201 S 2 1 0 PGS1 AK1 dgv3280n71 17 73907229 74043209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908886,nsv908885,nsv908884,nsv908883 M 6533 0 4 DNAH17,PGS1 IS41894,MS10311,MS16153,MS21100 nsv908887 17 73936771 73999879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573944 S 6533 0 1 DNAH17 IS33504 esv2512413 17 73945879 73946525 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199163 S 1 1 0 DNAH17 NA18507 esv2185799 17 73982402 73982853 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675196 S 1 0 1 DNAH17 NA18507 nsv470609 17 74007778 74019561 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547509 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNAH17 HGDP00550 nsv524975 17 74007778 74033232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701003 S 2026 0 1 DNAH17 esv995150 17 74008176 74020661 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564102 S 3 0 1 DNAH17 HuRef esv2650648 17 74015891 74017357 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348361 S 1 0 1 DNAH17 NA18507 nsv512507 17 74016381 74018441 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625108 S 1 0 1 DNAH17 1 esv2301284 17 74016553 74017021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656772 S 1 0 1 DNAH17 NA18507 nsv527452 17 74024594 74027315 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703893 S 2026 1 0 DNAH17 nsv521975 17 74024594 74030083 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694742 S 2026 1 0 DNAH17 dgv3281n71 17 74027315 74145560 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908888,nsv908889 M 6533 2 0 DNAH17 IS37968,IS38342 nsv908890 17 74032183 74109718 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578515 S 6533 1 0 DNAH17 IS34797 esv997097 17 74042048 74045328 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563490 S 3 0 1 DNAH17 HuRef nsv112223 17 74058021 74058021 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130801 M 24 DNAH17 nsv457916 17 74071972 74106726 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535010 S 1557 1 0 DNAH17 1780862586_A nsv520357 17 74075906 74084911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697370 S 2026 0 1 DNAH17 nsv908891 17 74075906 74109718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546963 S 6533 0 1 DNAH17 MS17208 nsv515872 17 74089903 74170722 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666236,nssv704461,nssv690344,nssv687580,nssv676658,nssv669338,nssv677528,nssv659984,nssv665097 M 2026 6 3 "" nsv908892 17 74092253 74123392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536782 S 6533 1 0 "" MS12947 esv1932150 17 74094565 74094909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4561612 S 1 0 1 "" NA18507 esv2573494 17 74168590 74172159 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356232 S 1 0 1 "" NA18507 nsv819517 17 74188636 74199664 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418602 S 2 0 1 CYTH1 AK1 nsv519983 17 74222907 74279586 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697162 S 2026 1 0 CYTH1 nsv522366 17 74251445 74279586 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695146 S 2026 1 0 CYTH1 nsv908893 17 74281810 74313693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510229 S 6533 0 1 CYTH1,USP36 SP54956 nsv520359 17 74290335 74296376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697371 S 2026 0 1 "" nsv908894 17 74345511 74408942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552551 S 6533 0 1 LOC100653515,TIMP2,USP36 MS19488 dgv3282n71 17 74383233 74451104 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908895,nsv908896 M 6533 0 2 LOC100653515,TIMP2 IS37573,IS39233 esv2031325 17 74400886 74401220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704407 S 1 0 1 LOC100653515,TIMP2 NA18507 dgv3283n71 17 74409569 74505964 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908897,nsv908898,nsv908901,nsv908899 M 6533 0 5 CANT1,LGALS3BP,LOC100653515,TIMP2 MS10311,MS19721,MS22421,MS22993,MS23531 nsv457917 17 74418948 74499358 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535011 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LGALS3BP,TIMP2 HGDP01333 nsv908900 17 74418948 74544687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538722,nssv1599448 M 6533 0 2 C1QTNF1,CANT1,LGALS3BP,LOC100507410,TIMP2 IS41634,MS13770 dgv3284n71 17 74429726 74703613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908904,nsv908902 M 6533 0 2 C1QTNF1,CANT1,ENGASE,LGALS3BP,LOC100507410,RBFOX3,TIMP2 IS41894,MS18276 nsv457918 17 74435021 74470354 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535012 S 1557 0 1 "" NINDS_61 nsv523650 17 74441474 74673240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699451 S 2026 0 1 C1QTNF1,CANT1,ENGASE,LGALS3BP,LOC100507410,RBFOX3 nsv2155 17 74453212 74487621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4291 S 9 1 0 LGALS3BP NA12878 nsv518775 17 74468926 74470354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696226 S 2026 0 1 "" nsv908903 17 74473654 74544687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573945 S 6533 0 1 C1QTNF1,CANT1,LGALS3BP,LOC100507410 IS33504 nsv470610 17 74481477 74599400 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547511,nssv547510,nssv547515,nssv547514,nssv547513 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1QTNF1,CANT1,ENGASE,LGALS3BP,LOC100507410,RBFOX3 HGDP00288,HGDP00290,HGDP00298,HGDP00661,HGDP00825 nsv908905 17 74481477 74613683 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564908 S 6533 1 0 C1QTNF1,CANT1,ENGASE,LGALS3BP,LOC100507410,RBFOX3 IS30316 dgv3285n71 17 74500380 74607772 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908907,nsv908906 M 6533 0 2 C1QTNF1,CANT1,ENGASE,LOC100507410,RBFOX3 IS31656,IS33684 esv22503 17 74511536 74512945 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18845 S 451 2 0 CANT1 NA18858,NA18916 nsv521186 17 74544687 74557017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684101,nssv689972 M 2026 0 2 C1QTNF1 nsv470611 17 74544687 74596676 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547516 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1QTNF1,ENGASE HGDP00641 nsv833556 17 74545568 74729151 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453750,nssv1453751,nssv1453755,nssv1453753,nssv1453754,nssv1453752 M 95 0 6 C1QTNF1,ENGASE,RBFOX3 nsv2156 17 74547156 74571779 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9969 S 9 0 1 C1QTNF1 NA18507 esv2491285 17 74559698 74568146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379092 S 1 0 1 "" NA18507 esv2497211 17 74559931 74565778 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348476 S 1 0 1 "" NA18507 esv2413063 17 74560236 74567757 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508748 S 1 0 1 "" NA18507 esv22333 17 74560648 74567933 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13769 S 451 0 3 "" NA18517,NA18909,NA19147 nsv514859 17 74561000 74561472 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628299 S 1414 0 1 "" dgv3286n71 17 74561296 74621639 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908910,nsv908908,nsv908909 M 6533 0 18 ENGASE,RBFOX3 IS30197,IS32737,IS33239,IS33514,IS33601,IS33630,IS33797,IS34407,IS37577,IS37874,IS40297,IS40799,IS41243,IS41634,MS10386,MS13095,MS13727,MS17208 esv25518 17 74572818 74573353 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15305 S 451 0 1 "" NA19129 nsv2157 17 74582573 74613381 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6732 S 9 1 0 ENGASE,RBFOX3 NA12156 nsv828114 17 74583884 74585756 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421686 S 31 1 0 ENGASE NA18969 nsv908911 17 74585161 74613683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544319 S 6533 0 1 ENGASE,RBFOX3 MS16315 dgv3287n71 17 74585161 74703613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908915,nsv908913,nsv908912 M 6533 0 3 ENGASE,RBFOX3 MS10311,MS16153,MS17208 esv23539 17 74589694 74592184 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21415 S 451 0 1 ENGASE NA19099 nsv524700 17 74593383 74607772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700680 S 2026 0 1 ENGASE,RBFOX3 nsv527899 17 74593383 74673240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704403 S 2026 0 1 ENGASE,RBFOX3 nsv908914 17 74599400 74646151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529881 S 6533 0 1 RBFOX3 MS10123 nsv833557 17 74607557 74789722 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453756,nssv1453757 M 95 0 2 RBFOX3 nsv908916 17 74621639 74646151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592386 S 6533 0 1 RBFOX3 IS39233 nsv908917 17 74632266 74703613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533811 S 6533 0 1 RBFOX3 MS11306 nsv112361 17 74646369 74646369 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130939 M 24 RBFOX3 esv1233971 17 74646393 74646393 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995113 S 2 1 0 RBFOX3 HuRef nsv817775 17 74650744 74662402 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417521 S 112 0 1 RBFOX3 NA18968 nsv522632 17 74651557 74657392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706030 S 2026 0 1 RBFOX3 dgv3288n71 17 74656886 74703613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908921,nsv908920,nsv908918,nsv908919 M 6533 0 4 RBFOX3 IS32322,IS32841,IS35484,IS39233 nsv908922 17 74678554 74708398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534756 S 6533 0 1 RBFOX3 MS11726 esv2000452 17 74679193 74679657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593800 S 1 0 1 RBFOX3 NA18507 nsv470612 17 74703613 74735394 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547517 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX3 HGDP00599 nsv527021 17 74703613 74746266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703396 S 2026 0 1 RBFOX3 esv1010966 17 74724022 74737297 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565203 S 3 0 1 RBFOX3 HuRef dgv1001e1 17 74743681 74774728 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19312,esv1080 M 271 0 0 RBFOX3 NA07022 nsv833558 17 74744878 74959077 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453759,nssv1453758 M 95 0 2 RBFOX3 nsv908923 17 74747800 74789085 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546965 S 6533 0 1 RBFOX3 MS17208 essv17993 17 74754058 74774728 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. RBFOX3 NA12005 esv998420 17 74768699 74782575 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563797 S 3 0 1 RBFOX3 HuRef nsv528997 17 74773715 74779109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705702 S 2026 0 1 RBFOX3 nsv529010 17 74775597 74787673 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705720 S 2026 1 0 RBFOX3 nsv908924 17 74777114 74794825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549936 S 6533 0 1 RBFOX3 MS18276 nsv908925 17 74779109 74808227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543745 S 6533 0 1 RBFOX3 MS16153 nsv470613 17 74785108 74820377 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547518 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX3 HGDP01412 nsv518325 17 74838408 74843754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695755 S 2026 0 1 RBFOX3 nsv833560 17 74849624 75033343 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453764,nssv1453763,nssv1453762,nssv1453761,nssv1453760 M 95 0 5 RBFOX3 dgv3289n71 17 74862253 74899145 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908928,nsv908926,nsv908930 M 6533 0 3 RBFOX3 MS13770,MS16153,MS17208 nsv908927 17 74867283 74879587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530905 S 6533 0 1 RBFOX3 MS10311 nsv517744 17 74868289 74905632 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671999,nssv653080,nssv656093,nssv663422,nssv666192,nssv657872,nssv673004,nssv655502,nssv681251,nssv685267,nssv678392,nssv696554,nssv683921,nssv669212,nssv662248,nssv689240,nssv666237 M 2026 16 1 RBFOX3 nsv908929 17 74870988 74890702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537149 S 6533 0 1 RBFOX3 MS13095 esv23168 17 74874819 74875939 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18501 S 451 0 1 RBFOX3 NA11894 nsv457924 17 74875302 74915689 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535014 S 1557 1 0 RBFOX3 1780862432_A nsv470614 17 74875302 74915689 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547522,nssv547526,nssv547527,nssv547519,nssv547525,nssv547520,nssv547521,nssv547524 M 443 8 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX3 HGDP00586,HGDP00599,HGDP00645,HGDP00678,HGDP00892,HGDP00903,HGDP01255,HGDP01280 nsv527752 17 74875302 74946181 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704238 S 2026 1 0 RBFOX3 dgv3290n71 17 74876674 74899145 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908931,nsv908932 M 6533 2 0 RBFOX3 IS33776,MS14147 nsv817776 17 74876674 74905197 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415873 S 112 1 0 RBFOX3 NA11992 dgv3291n71 17 74876674 74905632 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908936,nsv908933,nsv908934,nsv908940,nsv908938,nsv908935,nsv908937,nsv908941,nsv908942,nsv908939 M 6533 18 0 RBFOX3 IS30319,IS32653,IS34750,IS39331,IS40319,MS13232,MS15453,MS16385,MS20042,MS20346,MS21192,MS21780,MS22076,MS22707,MS24003,MS25617,MS26069,SP81381 dgv374n27 17 74876674 74907220 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457947,nsv457951,nsv457939,nsv457942,nsv457961,nsv457953,nsv457944,nsv457948,nsv457964,nsv457932,nsv457928,nsv457925,nsv457929,nsv457926,nsv457958,nsv457931,nsv457935,nsv457946,nsv457927,nsv457965,nsv457949,nsv457938,nsv457962,nsv457934,nsv457945,nsv457943,nsv457933,nsv457937,nsv457950,nsv457960,nsv457940,nsv457936,nsv457959 M 1557 33 0 RBFOX3 1780854128_A,1780854336_A,1780854486_A,1780854511_A,1780854599_A,1780862195_A,1780862390_A,1780862435_A,1780862530_A,1782681110_A,1782681195_A,1782681316_A,1787431197_A,1788485381_A,1798860186_A,HGDP00586,HGDP00599,HGDP00642,HGDP00645,HGDP00678,HGDP00726,HGDP00732,HGDP00735,HGDP01063,HGDP01065,HGDP01076,HGDP01153,HGDP01255,HGDP01280,NINDS_101,NINDS_190,NINDS_256,NINDS_99 nsv442427 17 74879746 74900069 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RBFOX3 nsv908943 17 74882676 74915689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530906 S 6533 0 1 RBFOX3 MS10311 nsv908944 17 74887246 74905632 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571745 S 6533 1 0 RBFOX3 IS32803 nsv908945 17 74889203 74912218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549937 S 6533 0 1 RBFOX3 MS18276 nsv828115 17 74901223 74901838 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421697 S 31 1 0 RBFOX3 NA18969 nsv908946 17 74912218 74946780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558324 S 6533 0 1 RBFOX3 MS23210 nsv457966 17 74930223 74954948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535052 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RBFOX3 HGDP01303 esv1345308 17 74971096 74971168 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872560 S 2 0 1 RBFOX3 HuRef nsv513485 17 74990917 74991119 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625892 S 1 1 0 "" 1 esv1067302 17 74991139 74991139 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002364 S 2 1 0 "" HuRef nsv9590 17 74991853 75033127 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27551,nssv28367,nssv24435,nssv25360,nssv26503 M 31 1 4 Samples from several populations that are part of the HapMap project. "" NA10839,NA18860,NA19173,NA19221,NA19240 esv2043488 17 74992030 74992431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842991 S 1 0 1 "" NA18507 nsv112374 17 74992191 74992278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130952 M 24 "" esv23359 17 74997596 75003574 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14964,esv20365 M 451 2 0 "" NA12044,NA19099 esv22826 17 75019234 75020954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17611 S 451 0 1 "" NA12044 esv1382305 17 75020306 75020306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593943 S 2 1 0 "" HuRef esv1993740 17 75044077 75044518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995029 S 1 0 1 "" NA18507 esv33693 17 75047370 75048961 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93236 S 51 1 0 "" 22170 nsv9592 17 75223385 75225810 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21160,nssv25385,nssv23845,nssv27559,nssv26517,nssv24461 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA12802,NA18860,NA19173,NA19240 esv23358 17 75223739 75225224 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16502 S 451 0 1 "" NA12044 nsv9593 17 75252336 75270348 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28369 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv908947 17 75269306 75388471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575177 S 6533 0 1 CBX2,CBX8,ENPP7,MIR4739 IS33684 esv28226 17 75287400 75320117 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19811,esv10973,esv10632 M 451 7 1 ENPP7,MIR4739 NA07037,NA12156,NA15510,NA18502,NA18861,NA19108,NA19240,NA19257 nsv9594 17 75294537 75306490 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23302,nssv26531 M 31 2 0 Samples from several populations that are part of the HapMap project. MIR4739 NA18942,NA19240 nsv908948 17 75317285 75404730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592388 S 6533 0 1 CBX2,CBX8,ENPP7 IS39233 dgv3292n71 17 75317285 75448511 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908954,nsv908955,nsv908949,nsv908950 M 6533 0 4 CBX2,CBX4,CBX8,ENPP7 IS30369,IS32841,IS41410,MS18276 nsv828116 17 75337386 75443727 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435490 S 31 0 1 CBX2,CBX4,CBX8 NA18942 nsv908951 17 75342867 75373079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500939 S 6533 0 1 CBX2 SP51109 dgv3293n71 17 75349284 75404730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908952,nsv908953 M 6533 0 2 CBX2,CBX8 MS10311,SP54956 dgv538n67 17 75353546 75437042 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828118,nsv828117 M 31 2 0 CBX2,CBX4,CBX8 NA18542,NA18968 nsv469865 17 75358742 75546172 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649886 M 265 0 2 Samples from several populations that are part of the HapMap project. CBX2,CBX4,CBX8,TBC1D16 nsv908956 17 75358818 75377539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507449 S 6533 0 1 CBX2 SP54725 nsv908957 17 75363556 75412999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596396 S 6533 0 1 CBX2,CBX8 IS40502 esv269503 17 75364274 75364359 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518459,essv2516111 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12873 esv33969 17 75365893 75368981 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98240,essv94790,essv93995,essv101409,essv97937,essv95652,essv95483,essv93144,essv95400,essv97403,essv94630,essv92723,essv93707,essv97200,essv96038,essv93543,essv93276,essv99701,essv95033,essv99299,essv97752,essv100140,essv100409 M 51 22 1 CBX2 21772,21791,21802,21805,21837,21841,21847,21863,21872,21879,21932,21944,21972,22075,22127,22128,22170,22217,22231,22275,22278,22286,22300 dgv3294n71 17 75369373 75436486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908959,nsv908958 M 6533 0 2 CBX2,CBX4,CBX8 SP54043,SP55021 nsv908960 17 75413442 75469049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592389 S 6533 0 1 CBX4 IS39233 nsv908961 17 75413442 75546086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530908 S 6533 0 1 CBX4,TBC1D16 MS10311 nsv828120 17 75421499 75430955 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434772 S 31 1 0 CBX4 NA18570 nsv111891 17 75467980 75468263 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130469 M 24 "" dgv3295n71 17 75471233 75553253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908964,nsv908965,nsv908962,nsv908966 M 6533 0 4 TBC1D16 IS32841,IS37646,IS39233,MS17208 dgv183n21 17 75477911 75486138 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526017,nsv526563 M 2026 0 2 "" nsv908963 17 75486138 75527356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575178 S 6533 0 1 "" IS33684 nsv470615 17 75499806 75524033 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547528 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00302 dgv3296n71 17 75499806 75546086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908968,nsv908967,nsv908969 M 6533 0 3 TBC1D16 IS32737,MS16153,MS18276 nsv908970 17 75501231 75525527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510231 S 6533 0 1 "" SP54956 nsv9595 17 75502474 75504797 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24859 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv520743 17 75547666 75555232 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674902,nssv689647,nssv687521 M 2026 3 0 TBC1D16 esv2210925 17 75559060 75559470 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807819 S 1 0 1 TBC1D16 NA18507 nsv833561 17 75566340 75755445 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453765,nssv1453766 M 95 0 2 CCDC40,EIF4A3,GAA,TBC1D16 nsv908971 17 75568048 75626437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510990 S 6533 0 1 CCDC40,TBC1D16 SP54988 nsv527410 17 75590730 75612284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703848 S 2026 0 1 TBC1D16 nsv517686 17 75597441 75612284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663523,nssv680933,nssv660734,nssv690446,nssv688262,nssv667087,nssv682596,nssv675726,nssv683616,nssv677867,nssv653024,nssv677919,nssv652837,nssv674437,nssv658671,nssv654320,nssv667524,nssv671473,nssv685294,nssv659532,nssv687581,nssv691480,nssv656396,nssv672921,nssv656435,nssv677529,nssv685094,nssv658932,nssv666648,nssv663212,nssv689505,nssv666873,nssv672898,nssv693164,nssv675932,nssv690399 M 2026 0 36 TBC1D16 esv29117 17 75606643 75615557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20930 S 451 0 8 TBC1D16 NA18517,NA18907,NA18909,NA19108,NA19114,NA19147,NA19190,NA19257 nsv828121 17 75607499 75615447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430914 S 31 0 1 TBC1D16 NA18947 esv2642422 17 75611884 75612914 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351252 S 1 1 0 TBC1D16 NA18507 nsv828122 17 75640091 75641270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422979 S 31 0 1 CCDC40 NA18547 esv271948 17 75670614 75670927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510178,essv2510116,essv2500823,essv2510988,essv2503179,essv2496621,essv2506753,essv2495422,essv2511440,essv2511184,essv2495286,essv2505099,essv2507946,essv2502343,essv2500208,essv2499440,essv2508062,essv2501699,essv2512208,essv2513226,essv2495392,essv2495903,essv2503392,essv2508580,essv2508360,essv2502543,essv2503835,essv2493432,essv2504994,essv2508899,essv2500321,essv2502798,essv2512553,essv2496794,essv2511748,essv2510689,essv2494301,essv2504226,essv2503033,essv2496564,essv2496269,essv2501150,essv2493628,essv2494808,essv2509016,essv2506134,essv2498367,essv2508790,essv2503347,essv2497259,essv2512964,essv2494576,essv2497182,essv2497823,essv2499945,essv2508319,essv2499902,essv2504588,essv2507893,essv2506336,essv2511298,essv2494483,essv2500110,essv2507673,essv2512678,essv2508109,essv2508490,essv2508616,essv2510006,essv2496113,essv2499244,essv2501627,essv2507453,essv2501035,essv2498464,essv2505883,essv2507214,essv2494020,essv2513543,essv2509228,essv2507393,essv2495604,essv2504900,essv2511087,essv2497849,essv2503456,essv2502417,essv2512310,essv2493041,essv2505438,essv2500560,essv2497400,essv2496031,essv2495154,essv2502621,essv2512806,essv2505682,essv2501493,essv2504864,essv2506924,essv2506591,essv2499092,essv2510904,essv2509650,essv2493533,essv2498799,essv2497497,essv2510497,essv2496994,essv2493885,essv2499754,essv2512199,essv2501974,essv2498019,essv2502234,essv2503648,essv2495744,essv2503993,essv2495009,essv2511532,essv2504362,essv2499526,essv2513102 M 157 123 0 Samples from several populations that are part of the HapMap project. CCDC40 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv273978 17 75670623 75670906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579334 S 7 1 0 Samples from several populations that are part of the HapMap project. CCDC40 NA19239 esv1580229 17 75670643 75670643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768489 S 2 1 0 CCDC40 HuRef nsv469591 17 75673716 75881880 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649706 M 265 0 31 Samples from several populations that are part of the HapMap project. CARD14,CCDC40,EIF4A3,GAA,RNF213,SGSH,SLC26A11 esv990091 17 75678785 75678847 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571688 S 3 0 1 CCDC40 HuRef esv1736428 17 75678812 75678875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291553 S 2 0 1 CCDC40 HuRef nsv908972 17 75691187 75707728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500603 S 6533 0 1 GAA SP50159 nsv9596 17 75701401 75706415 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23614,nssv24129,nssv27194 M 31 3 0 Samples from several populations that are part of the HapMap project. GAA NA18563,NA18972,NA18975 nsv833562 17 75702917 75889734 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453767 S 95 0 1 CARD14,EIF4A3,GAA,RNF213,SGSH,SLC26A11 esv1445518 17 75708629 75709078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830898 S 2 0 1 "" HuRef dgv1002e1 17 75752791 75790078 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7660,esv1279 M 271 0 0 CARD14 NA18632 esv34722 17 75758600 75780106 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979791,essv6986945,essv6990408 M 771 1 0 CARD14 NA18632 nsv908973 17 75760611 75789742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513145 S 6533 1 0 CARD14 SP55690 nsv908974 17 75767725 75808426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570823,nssv1592391 M 6533 0 2 CARD14,SGSH IS32322,IS39233 dgv3297n71 17 75767725 75826801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908978,nsv908979,nsv908975 M 6533 0 7 CARD14,SGSH,SLC26A11 IS32737,IS33504,IS38403,MS10386,MS10769,MS15835,MS18276 dgv3298n71 17 75767725 75894625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908981,nsv908977,nsv908976,nsv908980 M 6533 0 4 CARD14,RNF213,SGSH,SLC26A11 IS32841,IS34235,IS37646,MS10311 esv1007097 17 75773015 75773072 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565943 S 3 0 1 CARD14 HuRef nsv457968 17 75793488 75881354 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535053 S 1557 0 1 CARD14,RNF213,SGSH,SLC26A11 1780854080_A nsv908982 17 75794003 75861057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510232 S 6533 0 1 CARD14,RNF213,SGSH,SLC26A11 SP54956 nsv828123 17 75810941 75846094 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437100 S 31 1 0 SLC26A11 NA18542 nsv908983 17 75822969 75854127 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514944 S 6533 1 0 RNF213,SLC26A11 SP56100 nsv908984 17 75833660 75908064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537387 S 6533 1 0 RNF213,SLC26A11 MS13177 nsv908985 17 75845351 75937477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544803 S 6533 1 0 RNF213 MS16506 esv2009527 17 75845849 75846289 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502852 S 1 0 1 "" NA18507 esv1155210 17 75846052 75846125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921457 S 2 0 1 "" HuRef esv2545815 17 75862762 75863576 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390461 S 1 1 0 RNF213 NA18507 esv7605 17 75863296 75869745 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30046 S 1 0 0 RNF213 SJK nsv513486 17 75869420 75870480 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625893 S 1 1 0 RNF213 1 nsv908986 17 75882889 75937477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532897 S 6533 1 0 RNF213 MS10925 nsv2158 17 75892709 75937915 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7351 S 9 0 1 RNF213 NA12156 esv2166847 17 75901667 75902077 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902572 S 1 0 1 RNF213 NA18507 esv29846 17 75901759 75904858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12582,esv16037 M 451 0 4 RNF213 NA18502,NA18861,NA19108,NA19257 esv2473168 17 75901966 75904420 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247711 S 1 0 1 RNF213 NA18507 nsv821604 17 75902274 75904858 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419962 S 1 0 1 RNF213 NA10851 esv2311590 17 75944088 75944418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962518 S 1 0 1 LOC100294362,RNF213 NA18507 esv271360 17 75971100 75971428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548247,essv2530804,essv2544869,essv2534561,essv2561266,essv2549187,essv2519716,essv2522304,essv2565958,essv2532647,essv2528901,essv2553295,essv2533768,essv2527459,essv2555943,essv2531453,essv2526948 M 157 17 0 Samples from several populations that are part of the HapMap project. LOC100294362,RNF213 NA12045,NA12873,NA18526,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18576,NA18579,NA18605,NA18944,NA18952,NA18956,NA18961,NA19005 dgv3299n71 17 75982646 76133717 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908988,nsv908990,nsv908987 M 6533 0 3 ENDOV,LOC100294362,MIR4730,NPTX1,RNF213,RPTOR IS32841,IS33684,MS16153 esv24254 17 75984923 76245252 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13125,esv14129 M 451 16 1 ENDOV,LOC100294362,MIR4730,NPTX1,RPTOR NA07037,NA07045,NA11931,NA11993,NA11995,NA12006,NA12878,NA18508,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19129,NA19190,NA19257 dgv3300n71 17 76006829 76071303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908991,nsv908989 M 6533 0 4 ENDOV,MIR4730,NPTX1 IS37646,MS10769,MS17208,MS18276 nsv524479 17 76022586 76082006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700417 S 2026 0 1 ENDOV,NPTX1 dgv539n67 17 76030171 76102468 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828125,nsv828124 M 31 2 0 NPTX1 NA18542,NA18968 nsv526291 17 76034556 76043498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702572 S 2026 0 1 "" nsv908992 17 76034937 76076001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510233 S 6533 0 1 NPTX1 SP54956 nsv828126 17 76036926 76093798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435491 S 31 0 1 NPTX1 NA18942 nsv828127 17 76055210 76058870 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421719 S 31 1 0 NPTX1 NA18969 nsv820327 17 76075882 76078492 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419963 S 1 0 1 "" NA10851 esv2560345 17 76076116 76078620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5394148 S 1 0 1 "" NA18507 nsv512508 17 76076190 76078392 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625109 S 1 0 1 "" 1 esv1069968 17 76076543 76076831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278409 S 2 0 1 "" HuRef esv1729531 17 76076852 76077466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625806 S 2 0 1 "" HuRef esv1744973 17 76077614 76077899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691614 S 2 0 1 "" HuRef esv1419316 17 76080897 76080897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674381 S 2 1 0 "" HuRef esv2502163 17 76086157 76086571 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334393 S 1 1 0 "" NA18507 esv2610204 17 76086380 76086458 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238360 S 1 0 1 "" NA18507 nsv523005 17 76141122 76173006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698677 S 2026 0 1 RPTOR dgv3301n71 17 76141889 76238536 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv908993,nsv908994 M 6533 2 0 RPTOR IS38515,MS22707 esv1005839 17 76153937 76153937 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575944 S 3 1 0 RPTOR HuRef esv1689211 17 76154071 76154071 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926247 S 2 1 0 RPTOR HuRef esv1400864 17 76178988 76179061 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702116 S 2 0 1 RPTOR HuRef esv2639854 17 76189452 76191752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214324 S 1 0 1 RPTOR NA18507 nsv512509 17 76189676 76190934 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625111 S 1 0 1 RPTOR 1 esv2145853 17 76189767 76191048 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4642745 S 1 0 1 RPTOR NA18507 nsv833563 17 76194331 76402137 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453768 S 95 1 0 RPTOR esv1175895 17 76217874 76217874 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654811 S 2 1 0 RPTOR HuRef esv26223 17 76247436 77313922 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14954,esv13590,esv15510,esv20250,esv17782,esv18136,esv15794,esv10808,esv11192,esv20147,esv10582,esv10870,esv11485,esv14185,esv16043 M 451 20 25 AATK,AATK-AS1,ACTG1,ARL16,AZI1,BAHCC1,BAIAP2,C17orf56,C17orf70,C17orf89,C17orf90,CCDC137,CHMP6,FLJ90757,FSCN2,HGS,LINC00482,MIR1250,MIR3065,MIR3186,MIR338,MIR4740,MIR657,MRPL12,NPLOC4,PDE6G,RPTOR,SLC25A10,SLC38A10,TMEM105,TSPAN10 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv828128 17 76247436 77313922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432524,nssv1427919,nssv1423013,nssv1434056,nssv1429469,nssv1428711,nssv1422991,nssv1437828,nssv1424633,nssv1433314,nssv1430222,nssv1430927,nssv1430983,nssv1436232,nssv1425390,nssv1426202,nssv1431711,nssv1434773 M 31 0 18 AATK,AATK-AS1,ACTG1,ARL16,AZI1,BAHCC1,BAIAP2,C17orf56,C17orf70,C17orf89,C17orf90,CCDC137,CHMP6,FLJ90757,FSCN2,HGS,LINC00482,MIR1250,MIR3065,MIR3186,MIR338,MIR4740,MIR657,MRPL12,NPLOC4,PDE6G,RPTOR,SLC25A10,SLC38A10,TMEM105,TSPAN10 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18547,NA18552,NA18566,NA18570,NA18582,NA18947,NA18949,NA18972 esv1733088 17 76253806 76253896 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710587 S 2 0 1 RPTOR HuRef nsv112123 17 76253865 76253959 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130701 M 24 RPTOR esv1009971 17 76270030 76270081 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573839 S 3 0 1 RPTOR HuRef esv1366509 17 76270156 76270208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279852 S 2 0 1 RPTOR HuRef esv2255721 17 76279464 76279893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507816 S 1 0 1 RPTOR NA18507 nsv513488 17 76288574 76288863 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625896 S 1 1 0 RPTOR 1 esv2446389 17 76288647 76289459 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313201 S 1 1 0 RPTOR NA18507 nsv524591 17 76303498 76306599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700550 S 2026 0 1 RPTOR nsv908995 17 76306599 76399520 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557493 S 6533 1 0 RPTOR MS22707 nsv2159 17 76323766 76362867 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6733 S 9 0 1 RPTOR NA12156 nsv509675 17 76328493 76394967 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623725 S 4 1 0 RPTOR NA18994 esv988487 17 76331582 76332701 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564122 S 3 0 1 RPTOR HuRef esv2643427 17 76331879 76333974 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368689 S 1 0 1 RPTOR NA18507 esv1283102 17 76332095 76332311 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770469 S 2 0 1 RPTOR HuRef esv1469675 17 76332501 76333203 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958984 S 2 0 1 RPTOR HuRef esv1000448 17 76334584 76334694 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585516 S 3 0 1 RPTOR HuRef esv1522120 17 76334603 76334714 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714294 S 2 0 1 RPTOR HuRef esv995334 17 76336720 76336884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579629 S 3 0 1 RPTOR HuRef esv1198916 17 76336730 76336895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163233 S 2 0 1 RPTOR HuRef esv1272153 17 76400076 76400076 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070370 S 2 1 0 RPTOR HuRef esv1343992 17 76400097 76400097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776987 S 2 1 0 RPTOR HuRef nsv510730 17 76402173 76406716 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622729 S 4 0 1 RPTOR NA18994 dgv3302n71 17 76403883 76443970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv908996,nsv908997 M 6533 0 2 RPTOR IS34235,MS16153 dgv3303n71 17 76403883 76514053 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909002,nsv908998,nsv909004 M 6533 0 3 RPTOR IS41634,MS10386,MS18276 dgv3304n71 17 76403883 76760486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909001,nsv908999 M 6533 0 2 AATK,AATK-AS1,BAIAP2,CHMP6,FLJ90757,MIR1250,MIR3065,MIR338,MIR657,RPTOR MS10311,MS10769 nsv909000 17 76403883 77169413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546969 S 6533 0 1 AATK,AATK-AS1,ACTG1,AZI1,BAHCC1,BAIAP2,C17orf56,C17orf70,C17orf89,CHMP6,FLJ90757,FSCN2,LINC00482,MIR1250,MIR3065,MIR3186,MIR338,MIR4740,MIR657,NPLOC4,RPTOR,SLC38A10,TMEM105 MS17208 nsv470617 17 76408071 76434806 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547529 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RPTOR HGDP00586 nsv909003 17 76425282 76615895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557494 S 6533 1 0 CHMP6,RPTOR MS22707 nsv909005 17 76426770 76607004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573947 S 6533 0 1 CHMP6,RPTOR IS33504 esv1734821 17 76428901 76428996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245374 S 2 0 1 RPTOR HuRef esv1410733 17 76429013 76429114 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686490 S 2 0 1 RPTOR HuRef esv1605798 17 76429145 76429246 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105385 S 2 0 1 RPTOR HuRef esv1257641 17 76429316 76429526 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589468 S 2 0 1 RPTOR HuRef nsv828129 17 76449250 76449954 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423834,nssv1440026,nssv1436607 M 31 0 3 RPTOR NA18537,NA18592,NA18999 nsv819049 17 76449280 76449983 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419065 S 2 0 1 RPTOR AK1 esv991324 17 76449409 76449954 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586937 S 3 0 1 RPTOR HuRef nsv509676 17 76453155 76524914 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619720 S 4 1 0 RPTOR NA10860 dgv3305n71 17 76463451 76524437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909007,nsv909006 M 6533 0 2 RPTOR IS33248,IS34235 nsv909008 17 76463451 76552980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510234 S 6533 0 1 RPTOR SP54956 esv1674602 17 76464967 76464967 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643249 S 2 1 0 RPTOR HuRef esv1576909 17 76465142 76465142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186892 S 2 1 0 RPTOR HuRef esv1007678 17 76478203 76478278 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581572 S 3 0 1 RPTOR HuRef nsv112141 17 76506794 76506847 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130719 M 24 RPTOR nsv457969 17 76509109 76534515 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535054 S 1557 0 1 RPTOR NINDS_22 nsv457970 17 76509748 76565772 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535055 S 1557 1 0 RPTOR 1788485381_A esv1499151 17 76518856 76518856 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858347 S 2 1 0 RPTOR HuRef nsv909009 17 76527577 76658879 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593822 S 6533 1 0 BAIAP2,CHMP6,FLJ90757,RPTOR IS39526 nsv909010 17 76535542 76598170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510991 S 6533 0 1 CHMP6,RPTOR SP54988 nsv112459 17 76539639 76539639 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131037 M 24 RPTOR nsv470618 17 76540545 76585878 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547530 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHMP6,RPTOR HGDP00464 dgv3306n71 17 76545624 76644549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909012,nsv909020,nsv909011 M 6533 0 3 BAIAP2,CHMP6,FLJ90757,RPTOR IS37172,IS40230,MS16315 dgv3307n71 17 76545624 76697457 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909013,nsv909014 M 6533 0 2 BAIAP2,CHMP6,FLJ90757,RPTOR IS39233,MS18276 dgv3308n71 17 76545624 77073994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909027,nsv909026,nsv909022,nsv909015,nsv909016 M 6533 0 6 AATK,AATK-AS1,AZI1,BAHCC1,BAIAP2,C17orf56,C17orf89,CHMP6,FLJ90757,LINC00482,MIR1250,MIR3065,MIR3186,MIR338,MIR4740,MIR657,RPTOR,SLC38A10,TMEM105 IS33504,IS34235,IS41894,MS10123,MS10386,MS16153 esv1087588 17 76552027 76552027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764962 S 2 1 0 RPTOR HuRef nsv526008 17 76554452 76559732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702236 S 2026 0 1 RPTOR dgv3309n71 17 76559732 76625139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909019,nsv909017 M 6533 0 2 BAIAP2,CHMP6,FLJ90757 SP54956,SP55021 nsv909018 17 76568174 76594970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506086 S 6533 0 1 CHMP6 SP54043 esv1004379 17 76583113 76583190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577909 S 3 0 1 CHMP6 HuRef esv1442457 17 76583193 76583271 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049347 S 2 0 1 CHMP6 HuRef nsv2160 17 76592776 76606136 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5682 S 9 1 0 "" NA19129 esv1602955 17 76596256 76596256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591214 S 2 1 0 "" HuRef nsv833564 17 76603108 76752449 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453779,nssv1453770,nssv1453773,nssv1453769,nssv1453771,nssv1453772,nssv1453778,nssv1453777,nssv1453776,nssv1453775,nssv1453780,nssv1453781,nssv1453774 M 95 0 13 AATK,BAIAP2,FLJ90757,MIR1250,MIR3065,MIR338,MIR657 nsv909021 17 76608112 76733197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538724 S 6533 0 1 AATK,BAIAP2,FLJ90757,MIR1250,MIR3065,MIR338,MIR657 MS13770 esv1228535 17 76611351 76611597 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015990 S 2 0 1 "" HuRef nsv470619 17 76620628 76938238 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547531,nssv547535,nssv547532,nssv547533 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AATK,AATK-AS1,AZI1,BAIAP2,C17orf56,C17orf89,FLJ90757,LINC00482,MIR1250,MIR3065,MIR338,MIR657,SLC38A10,TMEM105 HGDP00302,HGDP00313,HGDP00556,HGDP00657 dgv3310n71 17 76632362 76938238 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909035,nsv909036,nsv909023 M 6533 0 3 AATK,AATK-AS1,AZI1,BAIAP2,C17orf56,C17orf89,LINC00482,MIR1250,MIR3065,MIR338,MIR657,SLC38A10,TMEM105 IS32322,IS37646,MS11237 nsv828131 17 76636399 76640525 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440714 S 31 0 1 BAIAP2 NA18564 nsv112250 17 76643979 76650702 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130828 M 24 BAIAP2 dgv3311n71 17 76650303 76739760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909028,nsv909024,nsv909030,nsv909025,nsv909029 M 6533 0 8 AATK,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 IS33248,IS33630,IS34908,IS35726,IS38293,IS39258,MS11579,MS13727 dgv3312n71 17 76658879 76772601 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909032,nsv909039,nsv909038,nsv909042,nsv909041,nsv909031 M 6533 0 6 AATK,AATK-AS1,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 IS32918,IS39417,MS10311,MS12262,MS16315,SP54988 dgv3313n71 17 76658879 76795370 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909033,nsv909034 M 6533 0 4 AATK,AATK-AS1,AZI1,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 IS32737,IS33684,MS10698,SP54956 nsv909037 17 76674775 76732848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514309 S 6533 0 1 AATK,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 SP55992 dgv3314n71 17 76674775 76807025 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909046,nsv909043,nsv909044,nsv909045,nsv909049,nsv909040 M 6533 0 6 AATK,AATK-AS1,AZI1,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 IS35007,IS35484,IS37172,MS15835,MS21124,SP54782 nsv828132 17 76698360 76698930 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435492 S 31 0 1 BAIAP2 NA18942 nsv523417 17 76704185 76752666 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699169 S 2026 1 0 AATK,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 nsv909047 17 76704185 76772601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574865 S 6533 1 0 AATK,AATK-AS1,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 IS33663 dgv3315n71 17 76704185 76795370 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909048,nsv909053 M 6533 0 2 AATK,AATK-AS1,AZI1,BAIAP2,MIR1250,MIR3065,MIR338,MIR657 IS39233,MS21059 dgv3316n71 17 76709739 76938238 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909055,nsv909050,nsv909051,nsv909056 M 6533 0 4 AATK,AATK-AS1,AZI1,C17orf56,C17orf89,LINC00482,MIR1250,MIR3065,MIR338,MIR657,SLC38A10,TMEM105 IS31045,IS32841,IS38840,IS40799 nsv909052 17 76709739 77910612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549944 S 6533 0 1 AATK,AATK-AS1,ACTG1,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,BAHCC1,C17orf56,C17orf70,C17orf89,C17orf90,CCDC137,CCDC57,CD7,CSNK1D,DCXR,DUS1L,DYSFIP1,FASN,FSCN2,GPS1,HGS,LINC00482,LOC92659,LRRC45,MAFG,MIR1250,MIR3065,MIR3186,MIR338,MIR4740,MIR657,MRPL12,MYADML2,NOTUM,NPB,NPLOC4,P4HB,PCYT2,PDE6G,PYCR1,RAC3,RFNG,SECTM1,SIRT7,SLC16A3,SLC25A10,SLC38A10,STRA13,TEX19,THOC4,TMEM105,TSPAN10 MS18276 dgv46n68 17 76722316 76877327 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833566,nsv833565 M 95 0 32 AATK,AATK-AS1,AZI1,C17orf56,C17orf89,SLC38A10 esv1011110 17 76727916 76727916 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571011 S 3 1 0 AATK HuRef esv271790 17 76735307 76735664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517397,essv2516949,essv2514067,essv2518839,essv2515484,essv2515170,essv2515553,essv2518096,essv2514413,essv2515799 M 157 10 0 Samples from several populations that are part of the HapMap project. AATK NA11918,NA11931,NA12043,NA12045,NA12249,NA12812,NA12815,NA12872,NA12874,NA18969 dgv3317n71 17 76739760 76859397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909057,nsv909054 M 6533 0 2 AATK,AATK-AS1,AZI1,C17orf56,C17orf89,SLC38A10 IS40230,MS13095 dgv1003e1 17 76741026 76933757 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15235,essv10207,essv14611,essv16524,esv295,essv2450,essv1472,essv7545,essv4587 M 271 0 0 AATK,AATK-AS1,AZI1,C17orf56,C17orf89,LINC00482,SLC38A10,TMEM105 NA18524,NA18545,NA18944,NA18999,NA19093,NA19094,NA19152,NA19210 nsv428351 17 76741026 78615238 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453569,nssv453566,nssv453568,nssv453567,nssv453570 M 62 5 0 AATK,AATK-AS1,ACTG1,ANAPC11,ARHGDIA,ARL16,ASPSCR1,AZI1,B3GNTL1,BAHCC1,C17orf101,C17orf56,C17orf62,C17orf70,C17orf89,C17orf90,CCDC137,CCDC57,CD7,CSNK1D,DCXR,DUS1L,DYSFIP1,FASN,FN3K,FN3KRP,FOXK2,FSCN2,GPS1,HEXDC,HGS,LINC00482,LOC92659,LRRC45,MAFG,MIR3186,MIR4740,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,P4HB,PCYT2,PDE6G,PYCR1,RAB40B,RAC3,RFNG,SECTM1,SIRT7,SLC16A3,SLC25A10,SLC38A10,STRA13,TBCD,TEX19,THOC4,TMEM105,TSPAN10,UTS2R,WDR45L,ZNF750 HGDP00467,HGDP00986,NA19096,NA19225,NA19257 esv2278259 17 76742816 76743419 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721384 S 1 0 1 AATK NA18507 esv2148507 17 76744352 76744792 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806828 S 1 0 1 AATK NA18507 esv1314431 17 76744532 76744590 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956379 S 2 0 1 AATK HuRef dgv3318n71 17 76747354 77125528 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909059,nsv909058 M 6533 0 2 AATK,AATK-AS1,ACTG1,AZI1,BAHCC1,C17orf56,C17orf70,C17orf89,FSCN2,LINC00482,MIR3186,MIR4740,SLC38A10,TMEM105 IS33248,MS10311 nsv828133 17 76760674 76766273 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435493 S 31 0 1 AATK-AS1 NA18942 nsv909060 17 76765275 76795370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499100 S 6533 0 1 AATK-AS1,AZI1 SP50159 dgv3319n71 17 76774020 76899209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909062,nsv909061 M 6533 0 2 AZI1,C17orf56,C17orf89,LINC00482,SLC38A10 IS31082,MS11726 nsv9597 17 76778846 76787233 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28371 S 31 1 0 Samples from several populations that are part of the HapMap project. AZI1 NA19221 esv1160595 17 76796305 76796305 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106408 S 2 1 0 AZI1 HuRef esv1728201 17 76796330 76796330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592742 S 2 1 0 AZI1 HuRef esv995211 17 76798283 76798457 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581928 S 3 0 1 AZI1 HuRef esv1376421 17 76798317 76798492 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000514 S 2 0 1 AZI1 HuRef nsv457971 17 76805157 76871369 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535056 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AZI1,C17orf56,C17orf89,SLC38A10 HGDP00814 dgv3320n71 17 76807025 77150886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909070,nsv909063,nsv909073,nsv909072,nsv909071 M 6533 0 6 ACTG1,AZI1,BAHCC1,C17orf56,C17orf70,C17orf89,FSCN2,LINC00482,MIR3186,MIR4740,NPLOC4,SLC38A10,TMEM105 IS33601,IS33684,IS34005,IS39233,IS41634,MS13770 dgv3321n71 17 76809616 76880296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909064,nsv909065,nsv909066 M 6533 0 11 AZI1,C17orf56,C17orf89,SLC38A10 IS30197,IS33162,IS34407,IS35484,IS38388,IS39258,IS41243,MS10769,MS11306,MS18848,SP54956 nsv909067 17 76809616 76899209 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575749,nssv1589117,nssv1584860,nssv1576017 M 6533 1 3 AZI1,C17orf56,C17orf89,LINC00482,SLC38A10 IS33797,IS33857,IS37172,IS38293 dgv3322n71 17 76809616 76938238 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909069,nsv909068 M 6533 0 3 AZI1,C17orf56,C17orf89,LINC00482,SLC38A10,TMEM105 IS33665,MS10698,MS16315 nsv509677 17 76815534 76855704 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619721 S 4 1 0 C17orf56,C17orf89,SLC38A10 NA10860 nsv909074 17 76819578 76847536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510993 S 6533 0 1 C17orf56,C17orf89,SLC38A10 SP54988 nsv2161 17 76826476 76870479 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10135,nssv5683 M 9 2 0 C17orf56,C17orf89,SLC38A10 NA18956,NA19129 esv987875 17 76836797 76837656 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564785 S 3 1 0 SLC38A10 HuRef dgv3323n71 17 76842778 77028031 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909075,nsv909077 M 6533 0 2 BAHCC1,LINC00482,MIR4740,SLC38A10,TMEM105 IS31656,IS34304 esv997494 17 76866467 76866467 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577417 S 3 1 0 SLC38A10 HuRef nsv909076 17 76882829 76931800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509375 S 6533 0 1 LINC00482,SLC38A10,TMEM105 SP54782 dgv3324n71 17 76882829 77143096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909078,nsv909083 M 6533 0 2 ACTG1,BAHCC1,C17orf70,FSCN2,LINC00482,MIR3186,MIR4740,NPLOC4,SLC38A10,TMEM105 IS32737,IS32841 nsv909079 17 76891102 76913185 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499897 S 6533 1 0 LINC00482,TMEM105 SP50107 dgv3325n71 17 76895520 76938238 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909080,nsv909081 M 6533 0 2 LINC00482,TMEM105 SP54956,SP54988 dgv3326n71 17 76902072 77083169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909082,nsv909084 M 6533 0 2 BAHCC1,MIR3186,MIR4740,TMEM105 IS30369,IS35484 nsv9598 17 76912973 76917686 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23820 S 31 0 1 Samples from several populations that are part of the HapMap project. TMEM105 NA10863 nsv909085 17 76917817 76966349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504106 S 6533 0 1 TMEM105 SP52195 esv1650860 17 76924821 76924821 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956112 S 2 1 0 "" HuRef esv1001151 17 76940929 76941759 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565712 S 3 1 0 "" HuRef esv1641825 17 76941079 76941079 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025684 S 2 1 0 "" HuRef dgv3327n71 17 76943559 77047701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909090,nsv909086,nsv909087 M 6533 0 6 BAHCC1,MIR3186,MIR4740 IS33514,IS33776,IS39258,IS41243,MS11669,MS12262 dgv3328n71 17 76943559 77086490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909088,nsv909091,nsv909094 M 6533 0 4 BAHCC1,MIR3186,MIR4740 IS32888,IS33178,IS33797,MS11726 dgv3329n71 17 76943559 77155280 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909089,nsv909100,nsv909093,nsv909097,nsv909092,nsv909098,nsv909095,nsv909096 M 6533 0 12 ACTG1,BAHCC1,C17orf70,FSCN2,MIR3186,MIR4740,NPLOC4 IS33239,IS34057,IS37172,IS37646,IS38176,IS40396,IS41410,MS10698,MS10769,MS19630,SP54956,SP54988 dgv3330n71 17 76963595 77664739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909108,nsv909099 M 6533 0 2 ACTG1,ANAPC11,ARHGDIA,ARL16,ASPSCR1,BAHCC1,C17orf70,C17orf90,CCDC137,CCDC57,DCXR,DUS1L,DYSFIP1,FASN,FSCN2,GPS1,HGS,LOC92659,LRRC45,MAFG,MIR3186,MIR4740,MRPL12,MYADML2,NOTUM,NPB,NPLOC4,P4HB,PCYT2,PDE6G,PYCR1,RAC3,RFNG,SIRT7,SLC25A10,STRA13,THOC4,TSPAN10 IS32322,IS33684 nsv828134 17 76979933 76995727 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435494 S 31 0 1 BAHCC1,MIR4740 NA18942 nsv2162 17 76986304 76987009 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1386 S 9 1 0 "" NA19240 nsv909101 17 76990592 77038675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500253 S 6533 0 1 BAHCC1,MIR3186 SP50159 nsv909102 17 76990592 77086490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589118 S 6533 0 1 BAHCC1,MIR3186 IS38293 nsv457973 17 76995142 77108300 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535057 S 1557 0 1 ACTG1,BAHCC1,MIR3186 1780862304_A esv1007420 17 76999931 77014997 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564196 S 3 1 0 BAHCC1 HuRef nsv2163 17 77000524 77027861 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4292,nssv6734,nssv1387,nssv10137,nssv2186,nssv9548,nssv10980,nssv5684 M 9 8 0 BAHCC1 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv165 17 77000543 77019553 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv165 S 1 1 0 BAHCC1 NA15510 esv2799 17 77004422 77005010 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25240 S 1 0 1 Single Asian sample YH BAHCC1 YH esv7468 17 77004458 77004915 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29909 S 1 0 1 BAHCC1 SJK esv1130130 17 77004895 77004895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328802 S 2 1 0 BAHCC1 HuRef esv2604305 17 77013373 77016177 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356759 S 1 0 1 BAHCC1 NA18507 esv1750680 17 77013668 77013726 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896583 S 2 0 1 BAHCC1 HuRef esv1551656 17 77014169 77014261 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127750 S 2 0 1 BAHCC1 HuRef esv1485304 17 77014279 77014364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278094 S 2 0 1 BAHCC1 HuRef nsv828135 17 77044910 77046345 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435495 S 31 0 1 BAHCC1 NA18942 dgv3331n71 17 77047701 77131682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909104,nsv909103 M 6533 0 2 ACTG1,BAHCC1,C17orf70,FSCN2 IS38144,IS39363 nsv909105 17 77061187 77115491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511547 S 6533 0 1 ACTG1,FSCN2 SP55021 esv1370864 17 77070054 77070109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670321 S 2 0 1 "" HuRef nsv112176 17 77070055 77070109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130754 M 24 "" nsv833567 17 77073553 77154421 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453828,nssv1453823,nssv1453819,nssv1453822,nssv1453818,nssv1453817,nssv1453820,nssv1453821,nssv1453824,nssv1453827,nssv1453826,nssv1453825,nssv1453816,nssv1453830,nssv1453829,nssv1453815,nssv1453814 M 95 0 17 ACTG1,C17orf70,FSCN2,NPLOC4 nsv833568 17 77073553 77213226 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453833,nssv1453835,nssv1453832,nssv1453834,nssv1453831 M 95 0 5 ACTG1,C17orf70,FSCN2,NPLOC4 esv991238 17 77078078 77080773 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565304 S 3 0 1 "" HuRef esv3402 17 77084809 77086204 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25843 S 1 0 1 Single Asian sample YH "" YH esv8044 17 77084909 77086075 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30485 S 1 0 1 "" SJK dgv3332n71 17 77086490 78074377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909106,nsv909112,nsv909113,nsv909132,nsv909133 M 6533 0 6 ACTG1,ANAPC11,ARHGDIA,ARL16,ASPSCR1,C17orf101,C17orf62,C17orf70,C17orf90,CCDC137,CCDC57,CD7,CSNK1D,DCXR,DUS1L,DYSFIP1,FASN,FOXK2,FSCN2,GPS1,HEXDC,HGS,LOC92659,LRRC45,MAFG,MRPL12,MYADML2,NARF,NOTUM,NPB,NPLOC4,P4HB,PCYT2,PDE6G,PYCR1,RAC3,RFNG,SECTM1,SIRT7,SLC16A3,SLC25A10,STRA13,TEX19,THOC4,TSPAN10,UTS2R IS32841,IS33504,IS34235,IS35484,IS38176,MS16153 nsv909107 17 77094403 77115491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508630 S 6533 0 1 ACTG1,FSCN2 SP54725 nsv470620 17 77098594 77615650 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547539,nssv547536,nssv547541,nssv547540,nssv547537,nssv547538,nssv547542 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANAPC11,ARHGDIA,ARL16,ASPSCR1,C17orf70,C17orf90,CCDC137,DCXR,DUS1L,DYSFIP1,FSCN2,GPS1,HGS,LOC92659,LRRC45,MAFG,MRPL12,MYADML2,NOTUM,NPB,NPLOC4,P4HB,PCYT2,PDE6G,PYCR1,RAC3,RFNG,SIRT7,SLC25A10,STRA13,THOC4,TSPAN10 HGDP00550,HGDP00657,HGDP00661,HGDP00702,HGDP00789,HGDP00825,HGDP00978 nsv2164 17 77109841 77143492 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4294 S 9 1 0 C17orf70,FSCN2,NPLOC4 NA12878 nsv475605 17 77112939 77113072 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558008 S 9 1 0 Samples from several populations that are part of the HapMap project. FSCN2 NA12878 esv1009816 17 77181305 77181948 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565788 S 3 1 0 NPLOC4 HuRef nsv909109 17 77182191 77303622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510240 S 6533 0 1 ARL16,C17orf90,CCDC137,HGS,MRPL12,NPLOC4,PDE6G,SLC25A10,TSPAN10 SP54956 esv9166 17 77188138 77188442 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31607 S 1 0 1 NPLOC4 SJK esv1319911 17 77188311 77189319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330613 S 2 0 1 NPLOC4 HuRef nsv909110 17 77207216 77224886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511548 S 6533 0 1 NPLOC4,TSPAN10 SP55021 nsv909111 17 77207216 77247754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510996 S 6533 0 1 C17orf90,CCDC137,NPLOC4,PDE6G,TSPAN10 SP54988 dgv3333n71 17 77213225 77664739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909117,nsv909130,nsv909118,nsv909121,nsv909115,nsv909114,nsv909135,nsv909131,nsv909129 M 6533 0 10 ANAPC11,ARHGDIA,ARL16,ASPSCR1,C17orf90,CCDC137,CCDC57,DCXR,DUS1L,DYSFIP1,FASN,GPS1,HGS,LOC92659,LRRC45,MAFG,MRPL12,MYADML2,NOTUM,NPB,NPLOC4,P4HB,PCYT2,PDE6G,PYCR1,RAC3,RFNG,SIRT7,SLC25A10,STRA13,THOC4,TSPAN10 IS32737,IS35968,IS37172,IS37646,IS38144,IS40230,IS41410,MS10311,MS17208,SP54956 esv1981187 17 77220583 77221262 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578715 S 1 0 1 TSPAN10 NA18507 esv1711846 17 77220760 77221075 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704012 S 2 0 1 TSPAN10 HuRef nsv909116 17 77260586 77303622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510997 S 6533 0 1 ARL16,HGS,MRPL12,SLC25A10 SP54988 dgv3334n71 17 77274831 77298027 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909124,nsv909119 M 6533 0 3 HGS,MRPL12,SLC25A10 SP54043,SP54725,SP55021 dgv3335n71 17 77274831 77303622 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909120,nsv909125 M 6533 0 2 HGS,MRPL12,SLC25A10 SP54672,SP55992 dgv3336n71 17 77279302 77292456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909122,nsv909123 M 6533 0 2 HGS,MRPL12,SLC25A10 SP55019,SP81010 nsv909126 17 77283518 77298027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508352 S 6533 0 1 MRPL12,SLC25A10 SP54684 nsv909127 17 77288155 77303622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507480 S 6533 0 1 SLC25A10 SP54657 nsv828136 17 77301768 77303583 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435497 S 31 0 1 "" NA18942 nsv909128 17 77307788 77542520 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600716,nssv1573231 M 6533 1 1 ANAPC11,ARHGDIA,ASPSCR1,DYSFIP1,LOC92659,MAFG,MYADML2,NOTUM,NPB,P4HB,PCYT2,PYCR1,SIRT7,THOC4 IS33248,IS41919 nsv909134 17 77307788 78217719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592395 S 6533 0 1 ANAPC11,ARHGDIA,ASPSCR1,C17orf101,C17orf62,CCDC57,CD7,CSNK1D,DCXR,DUS1L,DYSFIP1,FASN,FOXK2,GPS1,HEXDC,LOC92659,LRRC45,MAFG,MYADML2,NARF,NOTUM,NPB,P4HB,PCYT2,PYCR1,RAB40B,RAC3,RFNG,SECTM1,SIRT7,SLC16A3,STRA13,TEX19,THOC4,UTS2R,WDR45L IS39233 esv21913 17 77379288 78654713 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13390,esv18606,esv18867,esv18984,esv13452,esv18728,esv9782,esv20411,esv20774,esv21353,esv15116,esv12397,esv14693,esv13201,esv13575,esv16225,esv15303,esv14822,esv14525,esv20732,esv12572 M 451 15 25 ANAPC11,ARHGDIA,ASPSCR1,B3GNTL1,C17orf101,C17orf62,CCDC57,CD7,CSNK1D,DCXR,DUS1L,DYSFIP1,FASN,FN3K,FN3KRP,FOXK2,GPS1,HEXDC,LOC92659,LRRC45,MAFG,METRNL,MYADML2,NARF,NOTUM,NPB,P4HB,PCYT2,PYCR1,RAB40B,RAC3,RFNG,SECTM1,SIRT7,SLC16A3,STRA13,TBCD,TEX19,THOC4,UTS2R,WDR45L,ZNF750 NA06985,NA07037,NA07045,NA11993,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18916,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv833569 17 77390101 77562577 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453842,nssv1453837,nssv1453849,nssv1453841,nssv1453839,nssv1453836,nssv1453838,nssv1453840,nssv1453843,nssv1453846,nssv1453848,nssv1453845,nssv1453844,nssv1453847 M 95 0 14 ANAPC11,ARHGDIA,ASPSCR1,LOC92659,MAFG,MYADML2,NOTUM,NPB,P4HB,PCYT2,PYCR1,SIRT7,THOC4 dgv3337n71 17 77398423 77598217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909148,nsv909136 M 6533 0 2 ANAPC11,ARHGDIA,ASPSCR1,DCXR,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,NPB,P4HB,PCYT2,PYCR1,RAC3,SIRT7,STRA13,THOC4 IS33797,IS40828 dgv3338n71 17 77406296 77542520 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909137,nsv909147,nsv909138,nsv909139 M 6533 0 4 ANAPC11,ARHGDIA,ASPSCR1,LOC92659,MAFG,MYADML2,NOTUM,NPB,P4HB,PCYT2,PYCR1,SIRT7,THOC4 IS32803,IS32918,IS40396,SP54725 dgv3339n71 17 77406296 77664739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909146,nsv909143,nsv909140,nsv909157,nsv909150,nsv909156,nsv909141,nsv909149,nsv909144,nsv909142,nsv909145 M 6533 0 21 ANAPC11,ARHGDIA,ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,NPB,P4HB,PCYT2,PYCR1,RAC3,RFNG,SIRT7,STRA13,THOC4 IS30369,IS33178,IS33239,IS33361,IS33455,IS34057,IS34304,IS38538,IS39258,IS39363,IS39417,IS40297,IS40502,IS41634,MS10386,MS10698,MS11306,MS16315,MS17522,SP54988,SP55021 nsv909151 17 77420010 77695568 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575590,nssv1583649 M 6533 1 1 ANAPC11,ARHGDIA,ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,NPB,PCYT2,PYCR1,RAC3,RFNG,SIRT7,STRA13,THOC4 IS33776,IS36559 dgv3340n71 17 77420010 77725168 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909162,nsv909152,nsv909158 M 6533 0 4 ANAPC11,ARHGDIA,ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,NPB,PCYT2,PYCR1,RAC3,RFNG,SIRT7,STRA13,THOC4 IS34005,IS41317,MS10123,MS13770 dgv3341n71 17 77420010 77972228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909153,nsv909159,nsv909165 M 6533 0 3 ANAPC11,ARHGDIA,ASPSCR1,C17orf101,CCDC57,CD7,CSNK1D,DCXR,DUS1L,FASN,GPS1,HEXDC,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,NPB,PCYT2,PYCR1,RAC3,RFNG,SECTM1,SIRT7,SLC16A3,STRA13,TEX19,THOC4,UTS2R IS33601,IS41243,MS10769 esv33475 17 77422720 77442707 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100733,essv97967 M 51 1 1 THOC4 21656,21837 dgv3342n71 17 77433203 77490187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909154,nsv909155 M 6533 0 2 ANAPC11,LOC92659,MAFG,NPB,PCYT2,PYCR1,SIRT7,THOC4 SP51109,SP54043 esv29964 17 77442483 77503679 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84203 S 2 0 1 ANAPC11,LOC92659,MAFG,MYADML2,NOTUM,NPB,PCYT2,PYCR1,SIRT7,THOC4 HuRef esv33468 17 77442707 77478923 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94467 S 51 0 1 ANAPC11,MAFG,NPB,PCYT2,SIRT7,THOC4 21808 nsv909160 17 77455896 77586501 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573327 S 6533 1 0 ASPSCR1,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,PCYT2,PYCR1,RAC3,SIRT7,STRA13 IS33263 nsv909161 17 77455896 77598217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570643 S 6533 0 1 ASPSCR1,DCXR,LOC92659,LRRC45,MAFG,MYADML2,NOTUM,PCYT2,PYCR1,RAC3,SIRT7,STRA13 IS32306 nsv833571 17 77464559 77531108 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453851,nssv1453850,nssv1453853,nssv1453852,nssv1453854 M 95 0 5 ASPSCR1,LOC92659,MAFG,MYADML2,NOTUM,PYCR1,SIRT7 esv32874 17 77478923 77503400 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95173 S 51 0 1 LOC92659,MYADML2,PYCR1 21721 esv1917158 17 77480813 77481317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827341 S 1 0 1 LOC92659 NA18507 esv2338985 17 77498317 77498745 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815895 S 1 0 1 MYADML2 NA18507 nsv828137 17 77499152 77503892 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435498 S 31 0 1 NOTUM NA18942 dgv3343n71 17 77502230 77664739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909164,nsv909163 M 6533 0 2 ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LRRC45,NOTUM,RAC3,RFNG,STRA13 IS33162,IS37985 esv1277097 17 77521435 77521435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913258 S 2 1 0 "" HuRef nsv909166 17 77524946 77627732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574811,nssv1595943 M 6533 0 2 ASPSCR1,DCXR,DUS1L,GPS1,LRRC45,RAC3,RFNG,STRA13 IS33630,IS40368 nsv457975 17 77542520 77638015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535059 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASPSCR1,DCXR,DUS1L,FASN,GPS1,LRRC45,RAC3,RFNG,STRA13 HGDP00546 nsv909167 17 77542520 77664739 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567452,nssv1569846,nssv1548404,nssv1598009 M 6533 1 3 ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LRRC45,RAC3,RFNG,STRA13 IS31082,IS31728,IS40947,MS17825 dgv3344n71 17 77542520 77725168 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909171,nsv909168 M 6533 0 2 ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LRRC45,RAC3,RFNG,STRA13 IS33514,IS40799 dgv3345n71 17 77552948 77664739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909169,nsv909170,nsv909173,nsv909177 M 6533 0 7 ASPSCR1,CCDC57,DCXR,DUS1L,FASN,GPS1,LRRC45,RAC3,RFNG,STRA13 IS30197,IS32888,IS32918,IS39254,MS11054,MS11237,SP54725 dgv3346n71 17 77555299 77587196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909172,nsv909175,nsv909174 M 6533 0 4 ASPSCR1,DCXR,LRRC45,RAC3,STRA13 SP50159,SP54684,SP54782,SP55992 esv1006218 17 77560749 77560749 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566008 S 3 1 0 ASPSCR1 HuRef dgv3347n71 17 77564354 77621795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909185,nsv909180,nsv909176 M 6533 0 3 ASPSCR1,DCXR,DUS1L,GPS1,LRRC45,RAC3,RFNG,STRA13 SP51109,SP54043,SP54591 dgv3348n71 17 77574313 77594188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909182,nsv909179,nsv909178 M 6533 0 6 DCXR,LRRC45,RAC3 SP54750,SP54776,SP54967,SP55019,SP81010,SP81015 nsv909181 17 77575180 77652776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508122 S 6533 0 1 CCDC57,DCXR,DUS1L,FASN,GPS1,LRRC45,RAC3,RFNG SP54672 dgv3349n71 17 77575766 77609741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909183,nsv909184 M 6533 0 2 DCXR,DUS1L,GPS1,LRRC45,RAC3,RFNG SP54225,SP54892 nsv457976 17 77586501 77727682 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535060 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC57,DCXR,DUS1L,FASN,GPS1,RFNG HGDP00908 nsv470621 17 77598217 77725168 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547543 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC57,DUS1L,FASN,GPS1,RFNG HGDP00908 nsv909186 17 77598217 77725168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569690 S 6533 0 1 CCDC57,DUS1L,FASN,GPS1,RFNG IS31656 dgv3350n71 17 77599204 77611187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909194,nsv909187,nsv909190,nsv909195 M 6533 0 8 DUS1L,GPS1,RFNG SP54173,SP54657,SP55019,SP55195,SP55257,SP55264,SP81005,SP81010 nsv909188 17 77599204 77632770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509377 S 6533 0 1 DUS1L,FASN,GPS1,RFNG SP54782 dgv3351n71 17 77599204 77652776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909197,nsv909189 M 6533 0 2 CCDC57,DUS1L,FASN,GPS1,RFNG SP54684,SP55992 dgv3352n71 17 77599716 77621795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909196,nsv909191 M 6533 0 2 DUS1L,GPS1,RFNG SP54593,SP54937 nsv909192 17 77601176 77725168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597148 S 6533 1 0 CCDC57,DUS1L,FASN,GPS1,RFNG IS40744 dgv3353n71 17 77601176 78066366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909200,nsv909203,nsv909193 M 6533 0 3 C17orf101,C17orf62,CCDC57,CD7,CSNK1D,DUS1L,FASN,GPS1,HEXDC,NARF,RFNG,SECTM1,SLC16A3,TEX19,UTS2R IS33797,MS10311,MS17208 nsv909198 17 77624969 77652776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506090 S 6533 0 1 CCDC57,FASN SP54043 nsv909199 17 77627732 77644060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508691 S 6533 1 0 FASN SP54614 nsv909201 17 77629648 77652776 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511259,nssv1515267 M 6533 1 1 CCDC57,FASN SP55019,SP56143 nsv909202 17 77634806 77644472 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507893 S 6533 1 0 FASN SP54620 esv1000741 17 77637039 77649749 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564604 S 3 0 1 FASN HuRef nsv112507 17 77673576 77673576 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131085 M 24 CCDC57 nsv819888 17 77680497 77689837 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418574 S 2 0 1 CCDC57 AK1 esv1493148 17 77698968 77699048 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311586 S 2 0 1 CCDC57 HuRef nsv512510 17 77699242 77700273 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625112 S 1 0 1 CCDC57 1 esv7032 17 77699374 77700321 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29473 S 1 0 1 CCDC57 SJK esv3678 17 77699462 77700404 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26119 S 1 0 1 Single Asian sample YH CCDC57 YH esv1149029 17 77702053 77702107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292781 S 2 0 1 CCDC57 HuRef nsv112197 17 77713719 77713834 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130775 M 24 CCDC57 esv3254 17 77713795 77714177 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25695 S 1 0 1 Single Asian sample YH CCDC57 YH esv1004361 17 77713879 77713995 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572353 S 3 0 1 CCDC57 HuRef dgv3354n71 17 77725168 78074377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909204,nsv909213,nsv909209 M 6533 0 3 C17orf101,C17orf62,CCDC57,CD7,CSNK1D,FOXK2,HEXDC,NARF,SECTM1,SLC16A3,TEX19,UTS2R IS32737,IS37646,SP54956 nsv112226 17 77750173 77750642 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130804 M 24 CCDC57 nsv833572 17 77756142 77940000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453855,nssv1453858,nssv1453859,nssv1453857,nssv1453861,nssv1453860,nssv1453862,nssv1453856 M 95 0 8 CCDC57,CD7,CSNK1D,SECTM1,SLC16A3,TEX19,UTS2R dgv3355n71 17 77760278 77910612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909212,nsv909205,nsv909207,nsv909206 M 6533 0 5 CCDC57,CD7,CSNK1D,SECTM1,SLC16A3,TEX19 IS32322,IS33455,IS37172,IS40230,MS16315 nsv909208 17 77760278 77943620 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573232 S 6533 0 1 C17orf101,CCDC57,CD7,CSNK1D,SECTM1,SLC16A3,TEX19,UTS2R IS33248 nsv2166 17 77763457 77790137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4295 S 9 1 0 CCDC57,SLC16A3 NA12878 nsv513489 17 77766260 77766825 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625897 S 1 1 0 "" 1 esv2482984 17 77766375 77767046 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215312 S 1 1 0 "" NA18507 nsv909210 17 77775737 77788871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506091 S 6533 0 1 SLC16A3 SP54043 nsv909211 17 77775737 77802693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510999 S 6533 0 1 CSNK1D,SLC16A3 SP54988 nsv111744 17 77778735 77778800 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130322 M 24 "" nsv112264 17 77778787 77778855 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130842 M 24 "" esv995451 17 77786976 77794303 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564569 S 3 0 1 CSNK1D,SLC16A3 HuRef nsv828138 17 77795308 77795990 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437102 S 31 1 0 CSNK1D NA18542 nsv469561 17 77802313 78023439 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649673 M 265 0 0 Samples from several populations that are part of the HapMap project. C17orf101,C17orf62,CD7,CSNK1D,HEXDC,NARF,SECTM1,TEX19,UTS2R nsv828139 17 77802527 77818478 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435499 S 31 0 1 CSNK1D NA18942 nsv828140 17 77807815 77808955 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437830 S 31 1 0 CSNK1D NA18949 dgv3356n71 17 77818834 77943620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909215,nsv909214,nsv909216 M 6533 0 4 C17orf101,CD7,CSNK1D,SECTM1,TEX19,UTS2R IS33162,IS33665,IS38403,MS13095 nsv909217 17 77818834 77972228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538727,nssv1599453 M 6533 0 2 C17orf101,CD7,CSNK1D,HEXDC,SECTM1,TEX19,UTS2R IS41634,MS13770 nsv833573 17 77826218 77957348 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453863 S 95 0 1 C17orf101,CD7,SECTM1,TEX19,UTS2R dgv3357n71 17 77862035 77950709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909219,nsv909218 M 6533 0 2 C17orf101,CD7,SECTM1,TEX19,UTS2R IS30923,MS11467 nsv909220 17 77882573 77930126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573653,nssv1529936,nssv1534445,nssv1535408 M 6533 0 4 SECTM1,TEX19,UTS2R IS33475,MS10126,MS11579,MS12202 dgv3358n71 17 77882573 77966666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909226,nsv909222,nsv909221 M 6533 0 6 C17orf101,SECTM1,TEX19,UTS2R IS31045,IS38431,MS10123,MS10204,MS12262,MS15749 nsv909223 17 77882573 78009203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576966 S 6533 0 1 C17orf101,C17orf62,HEXDC,SECTM1,TEX19,UTS2R IS34304 esv1009380 17 77884735 77884735 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567763 S 3 1 0 SECTM1 HuRef dgv3359n71 17 77887398 77950709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909224,nsv909225 M 6533 0 8 C17orf101,TEX19,UTS2R IS30330,IS30835,IS31282,IS33580,IS33630,IS34645,IS35189,MS11726 esv3385 17 77891379 77891673 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25826 S 1 0 1 Single Asian sample YH "" YH esv1108699 17 77898574 77898832 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927740 S 2 0 1 "" HuRef nsv821135 17 77910387 77912828 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419964 S 1 0 1 TEX19 NA10851 esv2162612 17 77912229 77912934 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802044 S 1 0 1 TEX19 NA18507 esv1367803 17 77912444 77912444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876598 S 2 1 0 TEX19 HuRef nsv112382 17 77912492 77912601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130960 M 24 TEX19 nsv909227 17 77917676 77972228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511000 S 6533 0 1 C17orf101,HEXDC,UTS2R SP54988 nsv909228 17 77943620 78033022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581309 S 6533 1 0 C17orf101,C17orf62,HEXDC,NARF IS35565 nsv909229 17 77943620 78074377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572822 S 6533 0 1 C17orf101,C17orf62,FOXK2,HEXDC,NARF IS33178 dgv3360n71 17 77943620 78166561 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909232,nsv909230 M 6533 0 2 C17orf101,C17orf62,FOXK2,HEXDC,NARF,WDR45L IS32841,IS33684 nsv909231 17 77950709 78015159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599145 S 6533 0 1 C17orf101,C17orf62,HEXDC,NARF IS41410 nsv828143 17 77951259 77980807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435500 S 31 0 1 C17orf101,HEXDC NA18942 nsv112498 17 77963194 77963301 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131076 M 24 C17orf101 nsv833574 17 77970219 78130419 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453864 S 95 1 0 C17orf62,FOXK2,HEXDC,NARF dgv3361n71 17 77978909 78074377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909234,nsv909233 M 6533 0 2 C17orf62,FOXK2,HEXDC,NARF IS32322,MS16153 dgv3362n71 17 77981302 77998841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909235,nsv909236 M 6533 0 3 C17orf62,HEXDC SP54725,SP54988,SP55992 nsv828144 17 78009304 78009756 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426203 S 31 1 0 NARF AK4 nsv909237 17 78043426 78088328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510243 S 6533 0 1 FOXK2 SP54956 nsv909238 17 78049910 78147635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588260 S 6533 0 1 FOXK2 IS38176 esv1003878 17 78072585 78073783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566858 S 3 0 1 FOXK2 HuRef nsv909239 17 78097641 78147635 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594089 S 6533 1 0 FOXK2 IS39680 nsv509678 17 78105417 78151688 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619722 S 4 1 0 FOXK2 NA10860 nsv2167 17 78111090 78153104 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10982,nssv4296,nssv9971,nssv10138,nssv5685,nssv6735 M 9 6 0 FOXK2 NA12156,NA12878,NA15510,NA18507,NA18956,NA19129 nsv166 17 78122582 78151657 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv166 S 1 1 0 FOXK2 NA15510 nsv909240 17 78123568 78273738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546972 S 6533 0 1 FN3KRP,FOXK2,RAB40B,WDR45L MS17208 dgv3363n71 17 78123568 78367437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909242,nsv909241 M 6533 0 2 FN3K,FN3KRP,FOXK2,RAB40B,TBCD,WDR45L IS37646,MS10311 esv991816 17 78135397 78137619 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565040 S 3 1 0 FOXK2 HuRef nsv828145 17 78152626 78153519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427129,nssv1437103,nssv1430984 M 31 3 0 FOXK2 AK16,AK6,NA18542 esv990318 17 78165403 78165546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569191 S 3 0 1 "" HuRef esv1148493 17 78165409 78165553 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206569 S 2 0 1 "" HuRef nsv112341 17 78165495 78165566 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130919 M 24 "" esv1010132 17 78191084 78191084 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584744 S 3 1 0 WDR45L HuRef esv1510304 17 78191123 78191123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608539 S 2 1 0 WDR45L HuRef nsv909243 17 78206350 78273738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575184 S 6533 0 1 FN3KRP,RAB40B IS33684 nsv833575 17 78212041 78398677 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453865,nssv1453866 M 95 0 2 FN3K,FN3KRP,RAB40B,TBCD,ZNF750 nsv509680 17 78212478 78230761 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618126 S 4 1 0 RAB40B CHM nsv820798 17 78222170 78223821 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419965 S 1 1 0 RAB40B NA10851 esv1683901 17 78222623 78222678 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053637 S 2 0 1 RAB40B HuRef nsv909244 17 78222795 78311676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543753 S 6533 0 1 FN3K,FN3KRP,RAB40B,TBCD MS16153 esv1371613 17 78222819 78222926 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742356 S 2 0 1 RAB40B HuRef esv1463213 17 78222948 78223056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217859 S 2 0 1 RAB40B HuRef esv1288593 17 78223095 78223413 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984909 S 2 0 1 RAB40B HuRef esv2506580 17 78223458 78224501 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355261 S 1 1 0 RAB40B NA18507 esv1664800 17 78223475 78223475 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619842 S 2 1 0 RAB40B HuRef esv1565279 17 78223490 78223490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286020 S 2 1 0 RAB40B HuRef esv1330810 17 78223548 78223548 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633700 S 2 1 0 RAB40B HuRef esv5414 17 78243096 78243495 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27855 S 1 0 1 Single Asian sample YH RAB40B YH esv1007821 17 78243194 78243279 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568737 S 3 0 1 RAB40B HuRef esv1706997 17 78243344 78243430 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639727 S 2 0 1 RAB40B HuRef esv1589041 17 78264624 78264624 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343768 S 2 1 0 "" HuRef esv1006824 17 78267678 78267757 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575704 S 3 0 1 "" HuRef nsv828146 17 78309086 78317937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421730 S 31 1 0 TBCD NA18969 esv2473716 17 78315409 78317329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279469 S 1 0 1 TBCD NA18507 esv2073196 17 78315780 78316244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4925985 S 1 0 1 TBCD NA18507 esv2100645 17 78315813 78316712 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544835 S 1 0 1 TBCD NA18507 nsv820596 17 78315872 78316647 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419966 S 1 0 1 TBCD NA10851 esv1655374 17 78316058 78316058 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743101 S 2 1 0 TBCD HuRef esv2543939 17 78316497 78316572 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307022 S 1 0 1 TBCD NA18507 nsv909245 17 78316740 78446843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570828 S 6533 0 1 TBCD,ZNF750 IS32322 nsv909246 17 78316740 78618682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592396 S 6533 0 1 B3GNTL1,TBCD,ZNF750 IS39233 nsv833576 17 78320327 78398677 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453867 S 95 1 0 TBCD,ZNF750 nsv2168 17 78339493 78372274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5686 S 9 1 0 TBCD NA19129 esv267991 17 78353237 78353919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511394,essv2500219,essv2512430,essv2499432,essv2501697,essv2505543,essv2502888,essv2513193,essv2495843,essv2508539,essv2502558,essv2503770,essv2493494,essv2509857,essv2506086,essv2498278,essv2500407,essv2497326,essv2494527,essv2497151,essv2499891,essv2504523,essv2506381,essv2500609,essv2507620,essv2496096,essv2501556,essv2513448,essv2504975,essv2503067,essv2512378,essv2505474,essv2500487,essv2502725,essv2512829,essv2505671,essv2501258,essv2499211,essv2509535,essv2496947,essv2503959,essv2495086,essv2511488,essv2504343 M 157 44 0 Samples from several populations that are part of the HapMap project. TBCD NA07037,NA07051,NA07346,NA07347,NA11920,NA12006,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12489,NA12717,NA12750,NA12761,NA12763,NA18508,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18562,NA18563,NA18566,NA18571,NA18576,NA18603,NA18608,NA18907,NA18942,NA18943,NA18949,NA18952,NA18956,NA18965,NA18980,NA19005,NA19093,NA19114,NA19129,NA19190 esv1161627 17 78353281 78353281 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324664 S 2 1 0 TBCD HuRef esv4667 17 78371898 78372126 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27108 S 1 0 1 Single Asian sample YH TBCD YH dgv3364n71 17 78389960 78493217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909248,nsv909249,nsv909247 M 6533 0 3 TBCD,ZNF750 MS16315,MS18276,SP54988 esv1709974 17 78397426 78397426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730106 S 2 1 0 TBCD HuRef esv2456872 17 78399759 78400645 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171183 S 1 1 0 TBCD NA18507 esv1617510 17 78400048 78400048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744493 S 2 1 0 TBCD HuRef esv1425638 17 78400477 78400477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225948 S 2 1 0 TBCD HuRef dgv3365n71 17 78415369 78774742 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909258,nsv909250 M 6533 7 0 B3GNTL1,METRNL,TBCD IS35280,MS12138,MS13232,MS14636,MS20120,MS21225,MS22836 nsv909251 17 78421192 78494309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546973 S 6533 0 1 TBCD MS17208 dgv3366n71 17 78421192 78541807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909252,nsv909253 M 6533 0 2 B3GNTL1,TBCD MS10311,MS16153 nsv909254 17 78455193 78517996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540468 S 6533 1 0 B3GNTL1,TBCD MS14849 esv1644280 17 78456975 78456975 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077952 S 2 1 0 TBCD HuRef nsv909255 17 78470842 78508277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538798 S 6533 1 0 B3GNTL1,TBCD MS13770 dgv3367n71 17 78470842 78618682 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909261,nsv909256 M 6533 2 0 B3GNTL1,TBCD MS12033,MS19756 esv2259631 17 78476931 78477434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684194 S 1 0 1 TBCD NA18507 esv3529 17 78477059 78477544 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25970 S 1 0 1 Single Asian sample YH TBCD YH nsv112068 17 78477069 78477242 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130646 M 24 TBCD esv992336 17 78477087 78477260 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566747 S 3 0 1 TBCD HuRef esv1732251 17 78477122 78477296 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820307 S 2 0 1 TBCD HuRef nsv909257 17 78479817 78551840 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538112 S 6533 1 0 B3GNTL1,TBCD MS13487 nsv909259 17 78483927 78514443 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539905 S 6533 1 0 B3GNTL1,TBCD MS14566 esv1007172 17 78490010 78490010 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569145 S 3 1 0 TBCD HuRef esv1168558 17 78490050 78490050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730951 S 2 1 0 TBCD HuRef dgv3368n71 17 78491377 78541807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909263,nsv909260 M 6533 0 2 B3GNTL1,TBCD IS37172,MS11306 nsv529032 17 78498133 78514318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705743 S 2026 0 1 B3GNTL1 nsv909262 17 78498133 78526085 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576455,nssv1573950 M 6533 0 2 B3GNTL1 IS33504,IS34057 dgv3369n71 17 78498133 78573430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909265,nsv909264 M 6533 0 2 B3GNTL1 MS10769,MS18276 esv1364448 17 78520520 78520520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115225 S 2 1 0 B3GNTL1 HuRef esv1522450 17 78521834 78521834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042291 S 2 1 0 B3GNTL1 HuRef esv1980223 17 78522628 78523491 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784472 S 1 0 1 B3GNTL1 NA18507 esv1789492 17 78523419 78523419 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805623 S 2 1 0 B3GNTL1 HuRef nsv112402 17 78523849 78524004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130980 M 24 B3GNTL1 esv2512397 17 78525830 78528242 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213118 S 1 0 1 B3GNTL1 NA18507 nsv512511 17 78526100 78528257 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625113 S 1 0 1 B3GNTL1 1 esv1063912 17 78526243 78526304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271230 S 2 0 1 B3GNTL1 HuRef esv1207311 17 78526366 78526427 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985095 S 2 0 1 B3GNTL1 HuRef esv1777160 17 78526550 78526978 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301527 S 2 0 1 B3GNTL1 HuRef esv1317334 17 78527310 78527371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165214 S 2 0 1 B3GNTL1 HuRef esv1627319 17 78527608 78527669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646721 S 2 0 1 B3GNTL1 HuRef esv1073119 17 78533639 78533639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146279 S 2 1 0 B3GNTL1 HuRef esv1055866 17 78533726 78533726 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227590 S 2 1 0 B3GNTL1 HuRef esv2337820 17 78535146 78535653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967189 S 1 0 1 B3GNTL1 NA18507 esv1040276 17 78535295 78535469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051941 S 2 0 1 B3GNTL1 HuRef nsv909266 17 78541807 78573430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544326 S 6533 0 1 B3GNTL1 MS16315 nsv817777 17 78560778 78579829 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417206 S 112 0 1 B3GNTL1 NA18558 esv2476328 17 78562514 78563879 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306748 S 1 0 1 B3GNTL1 NA18507 nsv111962 17 78563030 78563221 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130540 M 24 B3GNTL1 esv5160 17 78563054 78563566 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27601 S 1 0 1 Single Asian sample YH B3GNTL1 YH esv998309 17 78563083 78563322 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579516 S 3 0 1 B3GNTL1 HuRef esv1288528 17 78563124 78563364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969909 S 2 0 1 B3GNTL1 HuRef nsv112440 17 78563299 78563490 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv131018 M 24 B3GNTL1 nsv820466 17 78573412 78574577 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419967 S 1 0 1 B3GNTL1 NA10851 esv1508603 17 78573617 78573711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920782 S 2 0 1 B3GNTL1 HuRef esv2567730 17 78577477 78578479 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262157 S 1 1 0 B3GNTL1 NA18507 esv1787320 17 78577792 78577792 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798602 S 2 1 0 B3GNTL1 HuRef nsv828147 17 78582838 78636054 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435501 S 31 0 1 B3GNTL1,METRNL NA18942 dgv3372n71 17 78587132 78634366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909270,nsv909277 M 6533 0 3 B3GNTL1,METRNL IS36527,SP51109,SP54782 dgv3373n71 17 78587132 78653169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909273,nsv909271,nsv909275 M 6533 0 3 B3GNTL1,METRNL IS39473,MS10123,SP54988 nsv828148 17 78589549 78590227 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426204 S 31 0 1 B3GNTL1 AK4 nsv828149 17 78599951 78638192 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437831 S 31 1 0 B3GNTL1,METRNL NA18949 nsv112308 17 78604001 78604204 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130886 M 24 "" nsv821597 17 78605752 78607172 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419968 S 1 0 1 "" NA10851 nsv529045 17 78609338 78634366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705761 S 2026 0 1 METRNL nsv819941 17 78609338 78653169 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418830 S 2 1 0 METRNL AK1 dgv3374n71 17 78615226 78636267 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909282,nsv909281,nsv909284 M 6533 0 3 METRNL SP54593,SP54725,SP55021 nsv909283 17 78615226 78653169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511260 S 6533 0 1 METRNL SP55019 nsv522768 17 78618682 78634366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698409 S 2026 0 1 METRNL esv2809 17 78618761 78619067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25250 S 1 0 1 Single Asian sample YH "" YH esv1360350 17 78619324 78619324 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875199 S 2 1 0 "" HuRef esv994347 17 78620058 78622009 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564131 S 3 1 0 "" HuRef nsv828150 17 78620631 78637841 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434057 S 31 1 0 METRNL NA18526 nsv111986 17 78623208 78623265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv130564 M 24 "" esv1010836 17 78643732 78643788 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585365 S 3 0 1 METRNL HuRef esv4139 17 78652991 78654462 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26580 S 1 0 1 Single Asian sample YH "" YH nsv828151 17 78653075 78653860 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438499 S 31 0 1 "" NA18951 nsv828152 17 78653075 78654250 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434775,nssv1424634 M 31 1 1 "" NA18570,NA18582 nsv828154 17 78653075 78654455 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436618 S 31 1 0 "" NA18592 nsv820443 17 78653075 78654713 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419969 S 1 0 1 "" NA10851 esv6552 17 78653162 78654302 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28993 S 1 0 1 "" SJK nsv9599 18 1 58441 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24453 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19007 nsv909285 18 1 186829 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537498 S 6533 1 0 ROCK1P1,USP14 MS13228 esv24223 18 657 102540 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16847,esv21286,esv20269 M 451 1 7 ROCK1P1 NA11931,NA11995,NA12044,NA12414,NA18502,NA18508,NA18907,NA19240 nsv909286 18 2842 129767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592727 S 6533 1 0 ROCK1P1 IS39243 nsv442428 18 38133 68539 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1392919 18 39124 39124 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075199 S 2 1 0 "" HuRef nsv821099 18 95197 102540 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419971 S 1 1 0 ROCK1P1 NA10851 esv8460 18 97082 97333 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30901 S 1 0 1 "" SJK esv3749 18 97796 99941 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26190 S 1 0 0 Single Asian sample YH ROCK1P1 YH esv5596 18 98266 98356 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28037 S 1 1 0 "" SJK esv7911 18 98318 98375 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30352 S 1 1 0 "" SJK esv4511 18 98416 98896 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26952 S 1 0 0 Single Asian sample YH "" YH esv1435867 18 98573 98573 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931765 S 2 1 0 "" HuRef nsv436849 18 98589 98756 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465631 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv435936 18 98610 98856 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465633 S 2 1 0 "" NA15510 esv5115 18 98973 99173 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27556 S 1 0 0 Single Asian sample YH ROCK1P1 YH esv7134 18 99208 101094 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29575 S 1 0 1 ROCK1P1 SJK esv6651 18 99210 99286 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29092 S 1 1 0 ROCK1P1 SJK esv6206 18 99345 99439 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28647 S 1 1 0 ROCK1P1 SJK esv7202 18 99486 100576 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29643 S 1 0 1 ROCK1P1 SJK nsv828155 18 111931 136891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430223 S 31 0 1 ROCK1P1 AK14 nsv2173 18 133622 142558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1389 S 9 1 0 "" NA19240 nsv518642 18 186829 321506 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696092 S 2026 1 0 COLEC12,THOC1,USP14 nsv512512 18 196610 199267 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625114 S 1 0 1 USP14 1 nsv909287 18 215964 667240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564493 S 6533 1 0 C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,THOC1,TYMS IS30222 nsv2174 18 230074 275087 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7353 S 9 0 1 THOC1 NA12156 esv7003 18 260798 260893 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29444 S 1 1 0 "" SJK nsv2175 18 264272 298896 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2975 S 9 1 0 "" NA18555 nsv909288 18 267763 2426748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559589 S 6533 0 1 ADCYAP1,C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,LINC00470,TYMS,YES1 MS24046 nsv437819 18 276971 302577 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467700 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19145 dgv1004e1 18 277648 297134 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14678,essv13504 M 271 0 0 "" NA18914,NA19145 dgv1005e1 18 277648 306558 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8678,esv1214 M 271 0 0 "" NA18912 nsv457977 18 279153 397958 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535061 S 1557 1 0 COLEC12 1780862457_A nsv517057 18 283519 292224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680468,nssv681192,nssv670119,nssv699637,nssv658013,nssv680742,nssv665358,nssv668547,nssv680263,nssv655840,nssv685295,nssv691420,nssv657298,nssv653859,nssv704088,nssv653701,nssv656511,nssv658716,nssv684022,nssv662814,nssv687883,nssv666898,nssv662963,nssv693496,nssv661068,nssv666435,nssv667748,nssv684753,nssv665414,nssv669319,nssv681624,nssv655085 M 2026 0 32 "" nsv817778 18 283519 292224 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418221,nssv1418222 M 112 0 2 "" NA19143,NA19145 nsv523438 18 283519 309176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699194 S 2026 0 1 "" nsv442429 18 283522 294262 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv7019 18 302597 302680 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29460 S 1 1 0 "" SJK esv1525800 18 302694 302694 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766882 S 2 1 0 "" HuRef nsv9600 18 305966 308389 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23642,nssv27204 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18972,NA18975 nsv517980 18 324742 328132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695392 S 2026 0 1 COLEC12 nsv2177 18 336361 368242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4301 S 9 1 0 COLEC12 NA12878 nsv909289 18 359148 713778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521238 S 6533 0 1 C18orf56,CETN1,CLUL1,COLEC12,ENOSF1,TYMS,YES1 SP52303 nsv909290 18 367746 397958 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582439,nssv1579190 M 6533 0 2 COLEC12 IS35028,IS35952 nsv909291 18 369749 388147 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548743 S 6533 1 0 COLEC12 MS17878 nsv522804 18 372088 384946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698449 S 2026 0 1 COLEC12 nsv510444 18 448226 454226 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624189,nssv618432 M 4 0 2 COLEC12 CHM,NA18994 nsv528515 18 495004 495472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705123 S 2026 0 1 "" esv1550212 18 502363 502481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888120 S 2 0 1 "" HuRef esv1454496 18 504527 504527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286165 S 2 1 0 "" HuRef nsv833577 18 511331 715019 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453869,nssv1453868,nssv1453871,nssv1453877,nssv1453870,nssv1453872,nssv1453876,nssv1453874,nssv1453873,nssv1453875,nssv1453882,nssv1453879,nssv1453878,nssv1453880,nssv1453881 M 95 14 1 C18orf56,CETN1,CLUL1,ENOSF1,TYMS,YES1 nsv909292 18 523191 608124 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593272 S 6533 1 0 CETN1,CLUL1 IS39391 nsv510731 18 524693 551718 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618953 S 4 0 1 "" NA10860 nsv528169 18 541688 2230220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704718 S 2026 0 1 ADCYAP1,C18orf56,CETN1,CLUL1,ENOSF1,LINC00470,TYMS,YES1 nsv510445 18 543671 549671 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624190 S 4 0 1 "" NA18994 nsv909293 18 562336 593871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507712 S 6533 0 1 CETN1,CLUL1 SP54725 esv2115113 18 581786 582228 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881406 S 1 0 1 "" NA18507 esv1551698 18 586910 586961 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200524 S 2 0 1 "" HuRef esv1619817 18 623827 623883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895239 S 2 0 1 CLUL1 HuRef nsv131524 18 623828 623883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150102 M 24 CLUL1 esv29026 18 641992 644019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10339 S 451 0 1 C18orf56 NA18517 esv2521731 18 656609 658137 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338537 S 1 0 1 TYMS NA18507 esv2023053 18 656750 657220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827541 S 1 0 1 TYMS NA18507 esv1982616 18 656764 657432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682001 S 1 0 1 TYMS NA18507 esv4728 18 656813 657198 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27169 S 1 0 1 Single Asian sample YH TYMS YH esv9315 18 657129 657252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31756 S 1 0 1 TYMS SJK dgv1006e1 18 667302 695598 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3251,esv1114 M 271 0 0 ENOSF1 NA18967 nsv527894 18 688312 693442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704397 S 2026 0 1 ENOSF1 nsv523729 18 693442 702037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699545 S 2026 0 1 ENOSF1 nsv131646 18 702350 702403 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150224 M 24 ENOSF1 esv1238079 18 702376 702376 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890276 S 2 1 0 ENOSF1 HuRef esv1006381 18 712193 728040 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564517 S 3 0 0 YES1 HuRef esv2577954 18 826252 827851 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190829 S 1 0 1 "" NA18507 esv1164731 18 827118 827434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793617 S 2 0 1 "" HuRef nsv522339 18 834449 882467 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695119 S 2026 1 0 "" esv271487 18 843452 843537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516988,essv2514843,essv2515299,essv2516567,essv2515611,essv2516070,essv2517637,essv2513636 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12234,NA12249,NA12814,NA12815,NA12873,NA12878 esv272566 18 843452 843537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581622 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2516091 18 844106 845208 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369659 S 1 1 0 "" NA18507 esv1010258 18 844878 844878 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568388 S 3 1 0 "" HuRef nsv131668 18 844880 844880 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150246 M 24 "" nsv525998 18 852169 872510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702223 S 2026 0 1 "" nsv2178 18 858312 878328 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10144 S 9 1 0 "" NA18956 nsv518677 18 885555 897710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696126 S 2026 0 1 ADCYAP1 nsv517252 18 892328 900635 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657497,nssv686020,nssv687522,nssv673398,nssv691982,nssv666078,nssv674164,nssv684690,nssv691307,nssv661018,nssv679898,nssv671206,nssv676857,nssv682292,nssv671053,nssv664283,nssv651939,nssv687637,nssv669933,nssv662099,nssv670611,nssv657097,nssv667400,nssv652867,nssv674679,nssv675228,nssv652309,nssv678475,nssv654756,nssv670475,nssv658413,nssv667619,nssv654073,nssv671522,nssv679405,nssv655935,nssv677920,nssv674560,nssv664430,nssv674092,nssv657787,nssv676686,nssv678597,nssv680707,nssv687935,nssv657140,nssv663281,nssv689287,nssv677730,nssv692751,nssv670960,nssv674534,nssv680795,nssv679469,nssv659357,nssv661146,nssv677768,nssv672177,nssv689039,nssv664822,nssv657689,nssv667003,nssv673993,nssv652896,nssv677695,nssv673026,nssv652173,nssv662642,nssv683858,nssv687068,nssv665901,nssv667571,nssv655690,nssv684596,nssv679776,nssv682325,nssv666514,nssv653753,nssv694010,nssv683341,nssv693802,nssv678752,nssv682561,nssv661838,nssv662407,nssv688336,nssv682598,nssv660867,nssv687025,nssv656211,nssv682229,nssv669273,nssv657842,nssv674199,nssv692893,nssv673342,nssv669581,nssv680968,nssv674411,nssv672660,nssv665866,nssv669597,nssv659745,nssv672763,nssv685419 M 2026 0 105 ADCYAP1 nsv833578 18 905710 1076135 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453883 S 95 1 0 "" nsv909294 18 984149 1040812 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548744 S 6533 1 0 "" MS17878 nsv2179 18 1011735 1056543 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7354 S 9 0 1 "" NA12156 esv995789 18 1021871 1027130 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565523 S 3 0 1 "" HuRef nsv909295 18 1043494 2214646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586158,nssv1593863 M 6533 0 2 LINC00470 IS37651,IS39530 esv5679 18 1066121 1066205 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28120 S 1 1 0 "" SJK esv5349 18 1106829 1107275 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27790 S 1 0 1 Single Asian sample YH "" YH esv21865 18 1189543 1190014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16015 S 451 0 1 "" NA18909 esv2211211 18 1209233 1209671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854009 S 1 0 1 "" NA18507 nsv130609 18 1209390 1209444 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149187 M 24 "" esv995620 18 1209398 1209452 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582916 S 3 0 1 "" HuRef esv1097645 18 1209453 1209508 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979635 S 2 0 1 "" HuRef nsv130620 18 1209454 1209508 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149198 M 24 "" esv2454333 18 1209766 1211177 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370467 S 1 0 1 "" NA18507 esv275071 18 1211972 1217820 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585907 S 1250 0 1 "" esv273512 18 1225760 1226084 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582035,essv2582570,essv2582947,essv2584214,essv2583761 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv268870 18 1225760 1226086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558207,essv2565762,essv2576011,essv2540827,essv2546473,essv2521321,essv2526251,essv2536709,essv2522800,essv2543936,essv2556575,essv2568285,essv2545648,essv2523119,essv2531981,essv2577615,essv2570499,essv2548365,essv2521709,essv2576511,essv2550750,essv2525429,essv2550432,essv2535310,essv2554023,essv2544512,essv2551950,essv2520411,essv2547483,essv2529091,essv2558413,essv2564375,essv2578028,essv2553638,essv2559758,essv2576329,essv2520245,essv2564306,essv2555160,essv2530697,essv2537631,essv2528643,essv2546836,essv2562619,essv2569263,essv2578522,essv2550069,essv2527068,essv2544833,essv2523576,essv2541105,essv2538190,essv2542919,essv2540413,essv2524340,essv2565068,essv2539553,essv2549530,essv2519685,essv2559815,essv2521958,essv2566257,essv2532634,essv2567836,essv2528877,essv2567507,essv2541782,essv2570147,essv2563925,essv2553330,essv2535729,essv2572305,essv2559241,essv2566809,essv2569088,essv2543496,essv2556445,essv2528049,essv2578317,essv2572952,essv2533659,essv2555768,essv2567080,essv2566628,essv2530136,essv2573778,essv2527632,essv2556017,essv2534478,essv2522644,essv2531616,essv2573370,essv2543205,essv2571914,essv2529688,essv2575674,essv2538681,essv2560610,essv2560861,essv2574638,essv2571268,essv2574506,essv2551303,essv2536140,essv2549004,essv2554362,essv2547644,essv2525081,essv2563204 M 157 109 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18507,NA18508,NA18510,NA18511,NA18522,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18870,NA18871,NA18907,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA19093,NA19099,NA19108,NA19116,NA19137,NA19138,NA19238,NA19240,NA19257 esv1406503 18 1225790 1225790 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595881 S 2 1 0 "" HuRef esv271653 18 1242560 1242720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503350,essv2512961,essv2499860,essv2507880,essv2500614,essv2512750,essv2508457,essv2496063,essv2512896,essv2503172,essv2511117,essv2497396,essv2495223 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18547,NA18562,NA18564,NA18571,NA18577,NA18582,NA18603,NA18609,NA18943,NA18944,NA18959,NA18964 nsv909296 18 1250539 1435905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556507 S 6533 0 1 LINC00470 MS22093 dgv3375n71 18 1285476 1357453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909298,nsv909297 M 6533 0 2 LINC00470 SP54490,SP54792 nsv909299 18 1313701 1350905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515614 S 6533 0 1 LINC00470 SP56224 nsv909300 18 1451084 1804845 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555998 S 6533 1 0 "" MS21737 dgv3376n71 18 1451084 2084574 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909302,nsv909301 M 6533 2 0 "" IS34837,MS21863 nsv527644 18 1456512 1457944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704115 S 2026 0 1 "" esv999244 18 1505745 1505795 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568004 S 3 0 1 "" HuRef esv1288659 18 1505746 1505796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131126 S 2 0 1 "" HuRef nsv2180 18 1527213 1572099 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7355 S 9 0 1 "" NA12156 esv274074 18 1529384 1530458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584221,essv2583554 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv909303 18 1547276 1773437 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519994 S 6533 1 0 "" SP50633 nsv528181 18 1564274 1567409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704731 S 2026 0 1 "" nsv527043 18 1573633 1574082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703419 S 2026 0 1 "" nsv909304 18 1580043 1625748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570514 S 6533 0 1 "" IS32150 nsv909305 18 1608782 1728361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563774 S 6533 0 1 "" IS30067 esv267393 18 1613143 1613272 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494347,essv2509941,essv2494683,essv2501323,essv2510502 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18508,NA18519,NA19093,NA19172 esv1386280 18 1619514 1619514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864722 S 2 1 0 "" HuRef esv2751772 18 1668746 1853989 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989538,essv6989270,essv6981894,essv6981895 M 771 0 1 "" BEC_5 dgv3377n71 18 1671354 1855220 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909307,nsv909306,nsv909309,nsv909308 M 6533 0 7 "" IS30597,IS32653,IS35189,IS36533,IS39393,IS40237,IS41243 dgv133e55 18 1703347 1824650 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751774,esv2751773 M 771 0 2 "" BEC_360,BEC_448 nsv457982 18 1708332 1750084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535062 S 1557 0 1 "" NINDS_189 nsv131670 18 1711055 1711126 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150248 M 24 "" nsv132036 18 1711189 1711257 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150614 M 24 "" dgv375n27 18 1721154 1829387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457984,nsv457983,nsv457986 M 1557 0 3 "" HGDP01384,HGDP01402,NINDS_62 nsv470402 18 1721154 1829387 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546998,nssv546987 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216,HGDP01384 nsv515908 18 1721154 1829387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661467,nssv667639,nssv684488,nssv702217,nssv657885,nssv665246,nssv687664,nssv676777,nssv688422,nssv667498,nssv683018 M 2026 0 11 "" nsv909310 18 1726035 1760403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577074 S 6533 0 1 "" IS34353 nsv833579 18 1734202 1904419 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453884 S 95 1 0 "" esv2422300 18 1753379 1840254 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161503 S 181 0 1 "" ND03938 nsv457990 18 1764157 1818189 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535067 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 nsv470403 18 1767013 1815170 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547009 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 nsv909311 18 1794619 1960241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519995 S 6533 1 0 "" SP50633 nsv131201 18 1810321 1810321 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149779 M 24 "" esv270290 18 1820637 1820964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558216,essv2541023,essv2546467,essv2525960,essv2542402,essv2536660,essv2571073,essv2523469,essv2531722,essv2577399,essv2521547,essv2576649,essv2525476,essv2535252,essv2544551,essv2552260,essv2520288,essv2547164,essv2558537,essv2577903,essv2553627,essv2565214,essv2576249,essv2519947,essv2554817,essv2530564,essv2537325,essv2528646,essv2546693,essv2557517,essv2578636,essv2539179,essv2527169,essv2544874,essv2523735,essv2552749,essv2541254,essv2540517,essv2539536,essv2519602,essv2567773,essv2567609,essv2570204,essv2553128,essv2550937,essv2556354,essv2527959,essv2578457,essv2531430,essv2543258,essv2538631,essv2571265,essv2536291,essv2538144,essv2549029,essv2554784,essv2524854 M 157 57 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA10851,NA11831,NA11881,NA11918,NA11919,NA11920,NA11993,NA12004,NA12006,NA12043,NA12144,NA12154,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12812,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18499,NA18510,NA18519,NA18522,NA18526,NA18537,NA18542,NA18545,NA18552,NA18563,NA18566,NA18577,NA18582,NA18593,NA18605,NA18858,NA18871,NA18907,NA18940,NA18961,NA18965,NA19108,NA19238 esv272328 18 1820637 1820964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582180,essv2582392,essv2582896,essv2583927 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 nsv2181 18 1825566 1832005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1390,nssv6741 M 9 2 0 "" NA12156,NA19240 esv1010566 18 1836153 1844849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563919 S 3 0 1 "" HuRef esv2447667 18 1841284 1842719 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343885 S 1 0 1 "" NA18507 esv2057111 18 1841834 1842482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652968 S 1 0 1 "" NA18507 esv2367713 18 1844539 1844937 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607419 S 1 0 1 "" NA18507 esv1512518 18 1844776 1844898 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655120 S 2 0 1 "" HuRef nsv909312 18 1862421 2032445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555999 S 6533 1 0 "" MS21737 esv2751775 18 1887930 1997871 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983543,essv6989809 M 771 0 1 "" BEC_667 dgv376n27 18 1903316 1970668 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457999,nsv457998,nsv457993,nsv457995,nsv458000,nsv457992,nsv457991,nsv457994 M 1557 0 8 "" 1780846320_A,1780854464_A,1780854522_A,1780854540_A,HGDP01373,NINDS_117,NINDS_132,NINDS_209 nsv517531 18 1903316 1970668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679519,nssv652283,nssv688909,nssv681576,nssv685942,nssv655261,nssv694142,nssv681280,nssv663599,nssv655903,nssv676583,nssv665012,nssv685016,nssv655812,nssv667618,nssv688955,nssv678321,nssv668130,nssv691607,nssv685244,nssv680817,nssv673991,nssv661928,nssv661515,nssv689648,nssv662682,nssv680966,nssv682370,nssv669685 M 2026 0 29 "" nsv428352 18 1905709 2162954 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453572,nssv453571 M 62 2 0 "" HGDP00472,HGDP01094 esv995130 18 1906720 1906720 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583531 S 3 1 0 "" HuRef nsv438275 18 1907900 1922838 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470686,nssv470687 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18612,NA18635 nsv2182 18 1909888 1943485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2976 S 9 1 0 "" NA18555 esv1689937 18 1945408 1945408 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996951 S 2 1 0 "" HuRef esv2603175 18 1951145 1953556 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329041 S 1 0 1 "" NA18507 nsv2183 18 1955951 1990972 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1391 S 9 1 0 "" NA19240 dgv377n27 18 1962346 2065915 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458009,nsv458010 M 1557 2 0 "" HGDP00472,HGDP01094 nsv470404 18 1964315 2059951 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547043,nssv547032,nssv547020 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00453,HGDP00472,HGDP01094 nsv521845 18 1964966 2011735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694619 S 2026 0 1 "" esv273431 18 2013977 2014094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580189,essv2580492,essv2579991,essv2580951,essv2579090,essv2579803 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv271442 18 2013997 2014239 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493764,essv2494937,essv2505786,essv2499187,essv2497711,essv2512005 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18520,NA18861,NA19114,NA19147,NA19238 esv2609259 18 2056410 2056906 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349329 S 1 1 0 "" NA18507 nsv909313 18 2068441 2396195 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511653 S 6533 1 0 "" SP55021 nsv833580 18 2096453 2285346 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453885 S 95 0 1 "" nsv909314 18 2230220 2559348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566254 S 6533 1 0 METTL4 IS30620 esv275056 18 2260703 2270490 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585246,essv2585842 M 1250 1 1 "" esv273946 18 2294359 2294474 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580861 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270616 18 2294382 2294682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558187,essv2565577,essv2546530,essv2542420,essv2536775,essv2544160,essv2571083,essv2568318,essv2523238,essv2531905,essv2577394,essv2548211,essv2554213,essv2547339,essv2564750,essv2559445,essv2519960,essv2562129,essv2546885,essv2552734,essv2544639,essv2523920,essv2552750,essv2541107,essv2538234,essv2542659,essv2540248,essv2561023,essv2539587,essv2519914,essv2522159,essv2565926,essv2568014,essv2528657,essv2553449,essv2535650,essv2559173,essv2556389,essv2567236,essv2530025,essv2573884,essv2527551,essv2534352,essv2568837,essv2533303,essv2554757,essv2547722,essv2563157 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11881,NA11919,NA11920,NA11992,NA11993,NA11995,NA12004,NA12006,NA12043,NA12045,NA12287,NA12717,NA12751,NA12776,NA12815,NA12874,NA12892,NA18502,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18562,NA18563,NA18566,NA18571,NA18572,NA18577,NA18579,NA18605,NA18608,NA18638,NA18871,NA18947,NA18949,NA18951,NA18952,NA18959,NA19147 esv2563125 18 2326531 2327431 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334882 S 1 1 0 "" NA18507 nsv2184 18 2326651 2353219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2977 S 9 1 0 "" NA18555 esv269529 18 2327087 2327435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512549,essv2511737,essv2493147,essv2503050,essv2493797,essv2494753,essv2506141,essv2505164,essv2507234,essv2494069,essv2495525,essv2499002,essv2497724,essv2496903,essv2502067 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18499,NA18504,NA18507,NA18517,NA18519,NA18523,NA18853,NA18870,NA18871,NA18916,NA19114,NA19147,NA19190,NA19257 esv2208824 18 2327570 2328062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916184 S 1 0 1 "" NA18507 esv22078 18 2362269 2367052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15418 S 451 0 2 "" NA18517,NA18861 nsv520081 18 2380802 2381697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697214 S 2026 0 1 "" nsv2185 18 2384019 2427903 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7356 S 9 0 1 "" NA12156 nsv458012 18 2402278 2437965 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535081 S 1557 0 1 "" 1780854255_A nsv828156 18 2420765 2421250 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426205 S 31 1 0 "" AK4 esv5407 18 2462689 2462915 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27848 S 1 0 1 Single Asian sample YH "" YH esv1747904 18 2462724 2462838 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717587 S 2 0 1 "" HuRef nsv130573 18 2462725 2462838 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149151 M 24 "" nsv2186 18 2466222 2499389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7357 S 9 1 0 "" NA12156 nsv132209 18 2555289 2556061 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150787 M 24 METTL4 esv1001812 18 2588380 2588884 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587087 S 3 1 0 NDC80 HuRef esv2487024 18 2603580 2605140 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331171 S 1 0 1 NDC80 NA18507 esv2089038 18 2604401 2604823 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887520 S 1 0 1 NDC80 NA18507 nsv131902 18 2604443 2604640 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150480 M 24 NDC80 esv1594787 18 2604470 2604656 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918399 S 2 0 1 NDC80 HuRef nsv909315 18 2632376 2807052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546239 S 6533 0 1 CBX3P2,SMCHD1 MS17114 nsv909316 18 2668064 2777776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566255 S 6533 1 0 SMCHD1 IS30620 esv2178988 18 2866418 2866826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987680 S 1 0 1 EMILIN2 NA18507 esv1007840 18 2866493 2866639 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574981 S 3 0 1 EMILIN2 HuRef esv1259581 18 2866495 2866642 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690427 S 2 0 1 EMILIN2 HuRef nsv2189 18 2890694 2935703 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7359 S 9 0 1 EMILIN2,LOC727896,LPIN2 NA12156 esv1119374 18 2987377 2987458 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888582 S 2 0 1 LPIN2 HuRef nsv513490 18 3026452 3027129 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625898 S 1 1 0 "" 1 nsv131766 18 3093002 3093002 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150344 M 24 MYOM1 nsv509681 18 3098405 3104722 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621048,nssv619723 M 4 2 0 MYOM1 NA10860,NA15510 esv1010829 18 3099976 3101695 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564257 S 3 1 0 MYOM1 HuRef nsv458013 18 3178976 3206302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535082 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYOM1 HGDP00637 nsv909317 18 3199224 3378779 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565984 S 6533 1 0 MYL12A,MYL12B,MYOM1 IS30539 esv275271 18 3241461 3245564 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585366 S 1250 0 1 MYL12A esv1749261 18 3262300 3262300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616295 S 2 1 0 MYL12B HuRef nsv131953 18 3262301 3262301 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150531 M 24 MYL12B esv1979638 18 3307896 3308293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821861 S 1 0 1 "" NA18507 nsv131161 18 3308056 3308128 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149739 M 24 "" nsv132111 18 3312428 3313286 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150689 M 24 "" esv25252 18 3340167 3340947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19232 S 451 0 1 "" NA19240 nsv2190 18 3398992 3432000 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1392 S 9 1 0 TGIF1 NA19240 esv1720477 18 3411289 3411289 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700474 S 2 1 0 TGIF1 HuRef nsv527676 18 3435826 3442978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704151 S 2026 0 1 TGIF1 nsv516490 18 3438762 3441762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668672,nssv663700 M 2026 0 2 TGIF1 dgv52n6 18 3492644 3498568 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv130703,nsv130606 M 24 DLGAP1 dgv184n21 18 3516775 5920979 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521255,nsv521876 M 2026 2 0 C18orf18,C18orf42,DLGAP1,EPB41L3,FLJ35776,LOC201477,LOC284215,LOC339290,LOC645355,MIR3976,TMEM200C,ZFP161 esv2637001 18 3549992 3553203 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194635 S 1 0 1 DLGAP1 NA18507 esv22513 18 3550692 3551929 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14684 S 451 0 2 DLGAP1 NA18861,NA19225 dgv540n67 18 3559331 3561302 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828158,nsv828157 M 31 0 2 DLGAP1 AK2,NA18969 nsv516032 18 3559620 3561217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682463,nssv654777,nssv665823,nssv693512,nssv685758,nssv666453,nssv705273,nssv679141,nssv675856,nssv691554,nssv693761,nssv667318,nssv672483,nssv685180 M 2026 0 14 DLGAP1 nsv817779 18 3559620 3561217 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417451,nssv1417550 M 112 0 2 DLGAP1 NA18953,NA18971 nsv517856 18 3569850 3570742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695260 S 2026 0 1 DLGAP1 esv2490559 18 3599550 3600368 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344024 S 1 1 0 DLGAP1 NA18507 esv2559439 18 3608557 3609021 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222101 S 1 1 0 DLGAP1 NA18507 dgv541n67 18 3625285 3626535 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828159,nsv828160 M 31 0 7 DLGAP1 AK16,NA18542,NA18592,NA18942,NA18951,NA18969,NA18972 esv29392 18 3625526 3627823 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15053,esv16896 M 451 0 2 DLGAP1 NA18907,NA19225 esv267398 18 3659100 3659439 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514602,essv2515513,essv2514915,essv2515921 M 157 4 0 Samples from several populations that are part of the HapMap project. DLGAP1 NA11840,NA12249,NA12812,NA12873 esv1053603 18 3664895 3665033 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217052 S 2 0 1 DLGAP1 HuRef dgv1007e1 18 3667422 4160252 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv741,essv18063,essv18324 M 271 0 0 DLGAP1,LOC201477 NA10846,NA12145 nsv523341 18 3710081 3713036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699088 S 2026 0 1 DLGAP1 nsv458014 18 3738286 3791031 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535083 S 1557 0 1 DLGAP1 1780854081_A nsv833582 18 3752990 3921071 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453886 S 95 0 1 DLGAP1,LOC201477 dgv134e55 18 3783886 4096164 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34571,esv34574 M 771 2 0 DLGAP1,LOC201477 NA10846,NA12145 dgv1008e1 18 3784119 4112410 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20859,essv24635 M 271 0 0 DLGAP1,LOC201477 NA10846,NA12145 nsv525905 18 3810050 3814077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702109 S 2026 0 1 DLGAP1 nsv438276 18 3815114 3820892 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470688,nssv470689 M 269 0 2 Samples from several populations that are part of the HapMap project. DLGAP1 NA10846,NA12145 esv2166992 18 3822960 3823391 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923371 S 1 0 1 DLGAP1 NA18507 nsv131465 18 3823131 3823182 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150043 M 24 DLGAP1 esv1733623 18 3823187 3823239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937288 S 2 0 1 DLGAP1 HuRef nsv2191 18 3866907 3909812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7360 S 9 0 1 DLGAP1,LOC201477 NA12156 nsv909318 18 3893635 3959844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548745 S 6533 1 0 DLGAP1 MS17878 nsv9601 18 3977018 3981223 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27214 S 31 1 0 Samples from several populations that are part of the HapMap project. DLGAP1 NA18972 esv2577067 18 3986299 3988169 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351542 S 1 0 1 DLGAP1 NA18507 esv2282661 18 3986833 3987682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692587 S 1 0 1 DLGAP1 NA18507 esv4964 18 3986975 3987546 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27405 S 1 0 1 Single Asian sample YH DLGAP1 YH esv7766 18 3987030 3987471 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30207 S 1 0 1 DLGAP1 SJK esv2432132 18 3987031 3987487 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240443 S 1 0 1 DLGAP1 NA18507 esv1587054 18 3987031 3987488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827053 S 2 0 1 DLGAP1 HuRef nsv131065 18 3987032 3987488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149643 M 24 DLGAP1 esv1608190 18 3992385 3992385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639913 S 2 1 0 DLGAP1 HuRef nsv9603 18 3998420 4000770 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24487 S 31 0 1 Samples from several populations that are part of the HapMap project. DLGAP1 NA10839 nsv520546 18 4147759 4154167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684276,nssv682597,nssv672417 M 2026 0 3 DLGAP1 nsv909319 18 4205843 4282011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535299 S 6533 0 1 DLGAP1,LOC284215 MS12138 nsv909320 18 4224452 4317490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548746 S 6533 1 0 DLGAP1,LOC284215 MS17878 nsv131453 18 4259350 4266170 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150031 M 24 DLGAP1,LOC284215 nsv523068 18 4275070 4282011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698755 S 2026 0 1 DLGAP1,LOC284215 nsv510446 18 4285763 4291763 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621449 S 4 0 1 DLGAP1,LOC284215 NA15510 nsv517765 18 4301534 4303044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677260,nssv684672,nssv660670,nssv670910,nssv653156 M 2026 0 5 DLGAP1 nsv516152 18 4312214 4325455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670650,nssv686641,nssv652553,nssv659268,nssv678005,nssv673477,nssv665993,nssv680346,nssv674506,nssv658068,nssv690154,nssv684930,nssv705961,nssv674830,nssv682490,nssv693693,nssv683590,nssv665122,nssv678050,nssv678845 M 2026 0 20 DLGAP1 nsv909321 18 4312214 4386466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527068 S 6533 0 1 DLGAP1 SP58108 esv2023494 18 4314556 4314959 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626144 S 1 0 1 DLGAP1 NA18507 esv1436100 18 4314711 4314781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284553 S 2 0 1 DLGAP1 HuRef esv28168 18 4320259 4325790 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17859 S 451 0 2 DLGAP1 NA18858,NA19257 esv2421665 18 4320954 4325455 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060968,essv5100495,essv5026442,essv5152379,essv5056517,essv5034691,essv5010113,essv5079529,essv5068831,essv5014916,essv5078905,essv5003139,essv5123536,essv5059452,essv5134759,essv5005090,essv5067544,essv5142968,essv5057483,essv5007161,essv5059608,essv5072986,essv5007852,essv5146589,essv5089884,essv5073389,essv5009531,essv5115095,essv5158953,essv5097199,essv5098707 M 1184 0 31 DLGAP1 NA18503,NA18504,NA18509,NA18511,NA18858,NA19140,NA19142,NA19213,NA19215,NA19223,NA19224,NA19257,NA19258,NA19350,NA19371,NA19712,NA19788,NA19835,NA19916,NA20126,NA20128,NA21368,NA21384,NA21386,NA21388,NA21400,NA21403,NA21404,NA21491,NA21509,NA21740 nsv458015 18 4320954 4325455 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535084 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DLGAP1 HGDP00462 nsv817780 18 4320954 4325455 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416239,nssv1416250 M 112 0 2 DLGAP1 NA19140,NA19142 esv268835 18 4345850 4346170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541011,essv2546353,essv2544032,essv2570990,essv2568310,essv2523345,essv2521832,essv2576831,essv2525216,essv2550322,essv2554319,essv2552144,essv2564678,essv2553789,essv2520255,essv2564255,essv2555064,essv2562059,essv2537553,essv2528200,essv2547009,essv2569661,essv2527095,essv2561480,essv2544842,essv2523775,essv2524410,essv2564818,essv2534770,essv2561304,essv2559808,essv2567699,essv2541525,essv2570037,essv2563757,essv2535641,essv2578357,essv2573210,essv2555480,essv2567129,essv2566548,essv2530102,essv2557680,essv2543088,essv2571878,essv2538701,essv2549831,essv2571193,essv2546021,essv2574302,essv2535917,essv2554530,essv2525124,essv2563436 M 157 54 0 Samples from several populations that are part of the HapMap project. DLGAP1 NA06986,NA07346,NA07357,NA10847,NA11831,NA11881,NA11992,NA11993,NA11995,NA12004,NA12144,NA12154,NA12156,NA12234,NA12287,NA12489,NA12751,NA12763,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18520,NA18522,NA18523,NA18526,NA18537,NA18555,NA18558,NA18561,NA18562,NA18570,NA18577,NA18592,NA18593,NA18603,NA18608,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18953,NA18965,NA18973,NA19108,NA19225,NA19238,NA19239,NA19240 esv272473 18 4345852 4346170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581978,essv2582453,essv2583056,essv2584108,essv2584772,essv2583277 M 7 6 0 Samples from several populations that are part of the HapMap project. DLGAP1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv909322 18 4360882 4415743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565826 S 6533 0 1 DLGAP1 IS30522 nsv528429 18 4364408 4380081 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705022 S 2026 1 0 DLGAP1 nsv909323 18 4364408 4402153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598615 S 6533 0 1 DLGAP1 IS41113 esv5302 18 4427694 4427992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27743 S 1 0 1 Single Asian sample YH DLGAP1 YH nsv519915 18 4452824 4483207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659451,nssv689359,nssv663727 M 2026 0 3 "" nsv2192 18 4473893 4511167 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5688,nssv10145 M 9 2 0 "" NA18956,NA19129 dgv3378n71 18 4478582 4899341 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909324,nsv909325 M 6533 2 0 "" IS30532,IS33304 nsv509682 18 4491792 4511824 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623726 S 4 1 0 "" NA18994 esv26058 18 4496475 4500678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19473 S 451 0 2 "" NA18508,NA18858 nsv516161 18 4499325 4508688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670610,nssv659334,nssv675227,nssv666555,nssv681995,nssv686160,nssv693902,nssv671052,nssv656398,nssv675169,nssv658251,nssv685350,nssv672265,nssv670474,nssv689670,nssv672492,nssv659222,nssv660686,nssv670238 M 2026 0 19 "" esv29136 18 4503869 4505734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19747 S 451 0 1 "" NA19240 dgv542n67 18 4514542 4526716 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828163,nsv828161,nsv828162 M 31 7 0 "" AK4,NA18552,NA18564,NA18949,NA18972,NA18997,NA18999 nsv821240 18 4525206 4526764 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419972 S 1 0 1 "" NA10851 dgv543n67 18 4525312 4526716 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828165,nsv828166 M 31 19 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18566,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968 dgv71e180 18 4525312 4526716 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010795,esv995483 M 3 1 0 "" HuRef esv29113 18 4525436 4526716 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15139 S 451 18 1 "" NA07037,NA11995,NA12004,NA12044,NA12239,NA12414,NA12489,NA12749,NA12828,NA18508,NA18858,NA18861,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225 nsv132052 18 4568709 4568709 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150630 M 24 "" nsv2193 18 4684041 4717824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7361 S 9 1 0 "" NA12156 nsv2194 18 4746875 4779293 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6742 S 9 1 0 "" NA12156 nsv909326 18 4790713 4899341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553164,nssv1557340 M 6533 0 2 "" MS19771,MS22611 esv2551772 18 4803394 4805077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230499 S 1 0 1 "" NA18507 esv2182487 18 4803611 4804660 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963485 S 1 0 1 "" NA18507 esv1522373 18 4864671 4864671 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137101 S 2 1 0 "" HuRef esv2447875 18 4893214 4894625 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387679 S 1 0 1 "" NA18507 esv3248 18 4945541 4946050 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25689 S 1 0 1 Single Asian sample YH "" YH esv275163 18 4968893 4975470 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585388 S 1250 0 1 "" esv272224 18 5026909 5027243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578879,essv2579602 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269994 18 5026930 5027291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499473,essv2502902,essv2502584,essv2512510,essv2511784,essv2504186,essv2498292,essv2497181,essv2497801,essv2507931,essv2506322,essv2507650,essv2512677,essv2508410,essv2496114,essv2494068,essv2511616,essv2511105,essv2497399,essv2503725,essv2495947,essv2495125,essv2500747,essv2501494,essv2498714,essv2510501,essv2512169,essv2502231 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA12156,NA12750,NA18489,NA18499,NA18505,NA18526,NA18552,NA18555,NA18564,NA18566,NA18576,NA18577,NA18582,NA18603,NA18871,NA18940,NA18944,NA18959,NA18960,NA18961,NA18964,NA18973,NA19093,NA19138,NA19172,NA19238,NA19257 esv274316 18 5072632 5072833 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580264 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv2552328 18 5088440 5089379 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271434 S 1 1 0 "" NA18507 esv271176 18 5088859 5089181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494152,essv2493188,essv2503008,essv2493609,essv2506245,essv2513514,essv2509323 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18507,NA18517,NA18523,NA18907,NA18909 nsv510447 18 5115686 5121686 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618433 S 4 0 1 "" CHM nsv523963 18 5178972 5191442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699813 S 2026 0 1 C18orf42 esv29706 18 5199094 5201041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14440,esv18881 M 451 0 4 "" NA15510,NA18858,NA19108,NA19240 nsv828167 18 5199515 5200676 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440716,nssv1432525 M 31 0 2 "" AK20,NA18564 esv2545600 18 5199518 5201344 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255203 S 1 0 1 "" NA18507 esv6485 18 5199581 5200670 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28926 S 1 0 1 "" SJK nsv820201 18 5199874 5202781 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419493 S 2 0 1 "" AK1 nsv828168 18 5199958 5200676 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430407,nssv1427132,nssv1427921,nssv1423016,nssv1423015,nssv1428713,nssv1436652,nssv1438502,nssv1429472,nssv1440028,nssv1435504,nssv1433317,nssv1430226,nssv1430988,nssv1434059,nssv1423836,nssv1437833,nssv1434776,nssv1436234,nssv1437106,nssv1431713,nssv1422246,nssv1430952,nssv1426207,nssv1439362,nssv1425393 M 31 0 26 "" AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 esv275202 18 5211558 5214409 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585326,essv2585593 M 1250 1 1 "" nsv510448 18 5242455 5248455 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618434,nssv621450,nssv622274,nssv624191 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv7301 18 5243805 5280052 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1393 S 9 0 0 ZFP161 NA19240 nsv2195 18 5282101 5325575 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7362 S 9 0 1 ZFP161 NA12156 nsv511601 18 5282983 5287603 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626230 S 1 1 0 ZFP161 1 esv23795 18 5284874 5286604 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19067 S 451 0 1 ZFP161 NA12489 dgv72e180 18 5290839 5291969 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv992309,esv996679 M 3 0 1 "" HuRef esv33355 18 5293097 5294034 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97563 S 51 0 1 "" 21616 nsv512513 18 5296511 5298044 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625115 S 1 0 1 "" 1 esv2268134 18 5296683 5297476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624563 S 1 0 1 "" NA18507 esv1722727 18 5296856 5297342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631273 S 2 0 1 "" HuRef esv1372640 18 5298218 5298274 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608128 S 2 0 1 "" HuRef esv33923 18 5305223 5308882 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98670,essv99922 M 51 2 0 "" 21606,22086 dgv11e24 18 5313741 5314539 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750594,esv2750609,esv2750707,esv2750724 M 51 4 0 "" 21656,21772,21805,21808 esv2484030 18 5313960 5316862 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340131 S 1 0 1 "" NA18507 esv2503987 18 5314027 5317191 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193283 S 1 0 1 "" NA18507 esv1957054 18 5314481 5316411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555718 S 1 0 1 "" NA18507 esv4914 18 5314578 5316284 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27355 S 1 0 1 Single Asian sample YH "" YH nsv130629 18 5314646 5316244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149207 M 24 "" esv28095 18 5314675 5316779 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17480,esv19568 M 451 22 0 "" NA07037,NA07045,NA11995,NA12004,NA12239,NA12287,NA12489,NA12749,NA12828,NA12878,NA18508,NA18517,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225 nsv820405 18 5314675 5316779 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419973 S 1 0 1 "" NA10851 esv32860 18 5328955 5332577 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100010 S 51 0 1 "" 22086 esv273358 18 5401634 5401972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584186,essv2583836 M 7 2 0 Samples from several populations that are part of the HapMap project. EPB41L3 NA19238,NA19240 esv3439 18 5447007 5447281 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25880 S 1 0 1 Single Asian sample YH EPB41L3 YH dgv53n6 18 5447106 5447209 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131937,nsv131146 M 24 EPB41L3 esv989108 18 5447109 5447208 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567433 S 3 0 1 EPB41L3 HuRef nsv521827 18 5514781 5516319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694601 S 2026 0 1 EPB41L3 esv998712 18 5592362 5596959 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565011 S 3 0 1 "" HuRef nsv909327 18 5740349 6030997 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555012 S 6533 1 0 L3MBTL4,LOC645355,MIR3976,TMEM200C MS21136 esv1960286 18 5760569 5760978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899473 S 1 0 1 LOC645355 NA18507 nsv909328 18 5912014 5948901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548747 S 6533 1 0 L3MBTL4 MS17878 nsv516209 18 5916216 5922670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659335,nssv657496,nssv666823,nssv693960,nssv656490,nssv655789,nssv667148,nssv669866,nssv688172 M 2026 0 9 "" esv29099 18 5917649 5960711 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17669,esv15961,esv16193,esv13255 M 451 6 1 L3MBTL4 NA07037,NA07045,NA12044,NA18502,NA18523,NA19114,NA19190 nsv442430 18 5918109 5923771 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514877 18 5918766 5921538 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628300 S 1414 0 1 "" nsv131965 18 5948119 5948169 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150543 M 24 L3MBTL4 nsv819367 18 5950194 5953109 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419495 S 2 1 0 L3MBTL4 AK1 nsv521604 18 5976416 5977788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698220 S 2026 0 1 L3MBTL4 nsv518347 18 6027422 6030997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695775 S 2026 0 1 L3MBTL4 nsv828169 18 6097632 6100111 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432526 S 31 0 1 L3MBTL4 AK20 nsv817781 18 6114882 6174092 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418519 S 112 0 1 L3MBTL4 NA19193 nsv131663 18 6146425 6146425 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150241 M 24 L3MBTL4 nsv131635 18 6146437 6146437 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150213 M 24 L3MBTL4 nsv521173 18 6152006 6174092 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697826 S 2026 1 0 L3MBTL4 nsv512514 18 6261622 6265173 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625116 S 1 0 1 L3MBTL4 1 esv2585361 18 6262079 6263775 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211322 S 1 0 1 L3MBTL4 NA18507 esv27049 18 6262476 6263541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20703 S 451 0 5 L3MBTL4 NA11894,NA18907,NA19190,NA19225,NA19240 nsv821505 18 6262476 6263541 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419974 S 1 0 1 L3MBTL4 NA10851 esv1675053 18 6262554 6262788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3897553 S 2 0 1 L3MBTL4 HuRef nsv909329 18 6284683 6391072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548748 S 6533 1 0 L3MBTL4,MIR4317 MS17878 nsv909330 18 6296121 6419648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556314 S 6533 0 1 L3MBTL4,MIR4317 MS21905 nsv525681 18 6305088 6310328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701839 S 2026 0 1 L3MBTL4 nsv909331 18 6419648 6506387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548749 S 6533 1 0 LOC100130480 MS17878 nsv528722 18 6487116 6488557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705376 S 2026 0 1 "" esv272077 18 6511649 6511976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502341,essv2495892,essv2507765,essv2500435,essv2500642,essv2500071,essv2507504,essv2497898,essv2503513,essv2505384 M 157 10 0 Samples from several populations that are part of the HapMap project. LOC100130480 NA12004,NA12489,NA12751,NA18537,NA18571,NA18573,NA18638,NA18945,NA18947,NA18952 esv1389062 18 6511697 6511697 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587993 S 2 1 0 LOC100130480 HuRef esv2473553 18 6530841 6532406 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256490 S 1 0 1 LOC100130480 NA18507 esv2265039 18 6531234 6531678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715989 S 1 0 1 LOC100130480 NA18507 nsv131661 18 6531311 6531499 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150239 M 24 LOC100130480 esv1687749 18 6531343 6531343 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177312 S 2 1 0 LOC100130480 HuRef nsv525383 18 6537010 6537131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701505 S 2026 0 1 LOC100130480 dgv185n21 18 6537010 6537397 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518781,nsv518419 M 2026 0 2 LOC100130480 nsv909332 18 6617063 6677257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505755 S 6533 0 1 "" SP53894 dgv3379n71 18 6636446 6710033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909333,nsv909334 M 6533 0 2 "" MS21738,MS22122 nsv909335 18 6651946 6670658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514348 S 6533 0 1 "" SP55996 esv2566842 18 6718880 6720366 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200268 S 1 0 1 "" NA18507 esv34611 18 6731970 6828290 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986689,essv6978686,essv6978687 M 771 1 0 ARHGAP28 NA12145 dgv1009e1 18 6752909 6933645 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv161,essv18309 M 271 0 0 ARHGAP28,LAMA1,LOC400643 NA10846 nsv9604 18 6833479 6836587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27065 S 31 0 1 Samples from several populations that are part of the HapMap project. ARHGAP28 NA19132 esv271900 18 6840830 6841155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578579,essv2569633,essv2561686,essv2533893,essv2575601,essv2560619,essv2524053,essv2574727,essv2572877 M 157 9 0 Samples from several populations that are part of the HapMap project. ARHGAP28 NA18510,NA18520,NA18523,NA18916,NA19099,NA19116,NA19129,NA19138,NA19143 nsv833583 18 6853008 7001756 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453887 S 95 1 0 ARHGAP28,LAMA1,LOC400643 nsv909336 18 6858925 6920901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548750 S 6533 1 0 ARHGAP28,LOC400643 MS17878 esv27738 18 6861761 6862242 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15631 S 451 1 0 ARHGAP28 NA12489 nsv909337 18 6880709 6929755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543756 S 6533 0 1 ARHGAP28,LOC400643 MS16153 nsv132229 18 6899248 6899248 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150807 M 24 ARHGAP28 nsv9605 18 6902443 6905166 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26545,nssv23872,nssv25062,nssv24513,nssv23670 M 31 0 5 Samples from several populations that are part of the HapMap project. ARHGAP28 NA07048,NA10839,NA11830,NA18975,NA19240 nsv7302 18 6916147 6967388 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2187 S 9 0 0 LAMA1,LOC400643 NA18555 nsv909338 18 6969570 6982249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548751 S 6533 1 0 LAMA1 MS17878 nsv526300 18 6970523 8381829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702581 S 2026 0 1 LAMA1,LOC100192426,LRRC30,PTPRM esv1010298 18 6996361 6996967 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587196 S 3 0 1 LAMA1 HuRef esv1060234 18 7063839 7063892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711216 S 2 0 1 LAMA1 HuRef nsv909339 18 7066836 7197967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516005 S 6533 1 0 LAMA1 SP56350 dgv3380n71 18 7066836 7359057 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909340,nsv909346,nsv909341 M 6533 3 0 LAMA1,LRRC30 MS22227,SP54177,SP55882 dgv3381n71 18 7066836 7568782 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909344,nsv909342,nsv909343,nsv909345 M 6533 7 0 LAMA1,LRRC30,PTPRM MS17674,SP50530,SP52552,SP52569,SP52851,SP53947,SP54395 esv1093980 18 7088822 7088948 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3755935 S 2 0 1 LAMA1 HuRef esv22796 18 7098710 7103772 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12264 S 451 1 0 LAMA1 NA18858 nsv828170 18 7125584 7136632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433318 S 31 1 0 "" NA18972 dgv544n67 18 7133648 7137129 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828172,nsv828171 M 31 2 0 "" AK20,NA18537 esv27498 18 7134225 7136816 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18441 S 451 1 0 "" NA18508 nsv820206 18 7134240 7136923 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419465 S 2 1 0 "" AK1 dgv545n67 18 7134373 7137129 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828173,nsv828174 M 31 14 0 "" AK10,AK12,AK14,AK18,AK4,AK6,NA18526,NA18547,NA18552,NA18582,NA18942,NA18949,NA18969,NA18999 esv993099 18 7134858 7138406 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565506 S 3 1 0 "" HuRef nsv909347 18 7166761 7324214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531781 S 6533 1 0 LRRC30 MS10645 nsv909348 18 7269341 7568782 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516006 S 6533 1 0 PTPRM SP56350 esv2550998 18 7287243 7288640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173153 S 1 0 1 "" NA18507 dgv3382n71 18 7333763 7457962 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909352,nsv909350,nsv909349,nsv909351 M 6533 4 0 "" MS10645,MS22227,SP54177,SP55882 esv1024341 18 7336429 7336429 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671954 S 2 1 0 "" HuRef nsv131244 18 7336430 7336430 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149822 M 24 "" esv273217 18 7349695 7349780 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581127 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1001102 18 7366827 7367376 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586128 S 3 1 0 "" HuRef dgv3383n71 18 7469133 7568782 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909353,nsv909356,nsv909355,nsv909354 M 6533 4 0 PTPRM MS10645,MS22227,SP54177,SP55882 nsv2196 18 7475533 7510484 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1394 S 9 1 0 "" NA19240 nsv909357 18 7514275 7568782 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499646 S 6533 1 0 PTPRM SP50530 esv2586739 18 7555506 7559506 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277175 S 1 0 1 PTPRM NA18507 esv23000 18 7556788 7558888 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15715 S 451 0 2 PTPRM NA12489,NA12749 nsv909358 18 7675307 7683309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585447 S 6533 0 1 PTPRM IS37458 nsv458017 18 7679201 7737873 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535085 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRM HGDP01213 nsv470406 18 7690462 7737873 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547054 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRM HGDP01213 esv271410 18 7715466 7715642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504213,essv2503026,essv2494737,essv2505309,essv2513431,essv2509268,essv2501309,essv2506904,essv2498970,essv2497057,essv2502037 M 157 11 0 Samples from several populations that are part of the HapMap project. PTPRM NA18505,NA18507,NA18519,NA18853,NA18907,NA18909,NA19093,NA19102,NA19114,NA19190,NA19257 nsv525328 18 7722917 7750498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701438 S 2026 0 1 PTPRM esv6046 18 7786752 7786805 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28487 S 1 1 0 PTPRM SJK nsv130934 18 7899701 7899756 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149512 M 24 PTPRM nsv2197 18 7937208 7969930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2188 S 9 1 0 PTPRM NA18555 nsv521059 18 7952217 7971018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692542,nssv680934,nssv683591 M 2026 0 3 PTPRM esv1023039 18 7975487 7975487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031301 S 2 1 0 PTPRM HuRef nsv909359 18 7991853 8054021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525887 S 6533 0 1 PTPRM SP56870 nsv2198 18 8062281 8096349 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7363 S 9 1 0 PTPRM NA12156 esv267735 18 8149110 8149195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519034 S 157 1 0 Samples from several populations that are part of the HapMap project. PTPRM NA19141 nsv458020 18 8151470 8173260 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535087 S 1557 0 1 PTPRM 1780854123_A nsv909360 18 8157050 8197445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566437 S 6533 0 1 PTPRM IS30720 nsv458021 18 8183657 8217344 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535088 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRM HGDP00640 nsv470407 18 8183657 8217344 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547065 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRM HGDP00640 esv2647835 18 8195906 8200605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263177 S 1 0 1 PTPRM NA18507 esv275400 18 8278568 8280747 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585292,essv2585504 M 1250 1 1 PTPRM nsv817782 18 8287072 8290337 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417199 S 112 0 1 PTPRM NA18558 nsv909361 18 8354598 8436393 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548752 S 6533 1 0 LOC100192426,PTPRM MS17878 esv2451132 18 8361601 8363121 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233673 S 1 0 1 PTPRM NA18507 esv2419492 18 8361878 8362573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4600508 S 1 0 1 PTPRM NA18507 dgv186n21 18 8553622 8572179 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524077,nsv519772 M 2026 0 2 "" nsv2200 18 8608182 8653130 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7364 S 9 0 1 RAB12 NA12156 esv5209 18 8624105 8624451 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27650 S 1 0 1 Single Asian sample YH RAB12 YH esv1001194 18 8626113 8629190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563783 S 3 0 1 RAB12 HuRef esv23442 18 8694953 8696813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15640 S 451 0 4 "" NA07045,NA12489,NA12749,NA19190 esv273063 18 8708926 8709264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580467 S 7 1 0 Samples from several populations that are part of the HapMap project. CCDC165 NA12891 nsv909362 18 8710897 8753794 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548753 S 6533 1 0 CCDC165 MS17878 nsv523589 18 8713308 8716629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699379 S 2026 0 1 CCDC165 nsv517204 18 8714457 8716629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680818,nssv654004,nssv669710,nssv656586 M 2026 0 4 CCDC165 nsv521231 18 8714457 8727474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697859 S 2026 0 1 CCDC165 nsv833584 18 8718616 8894213 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453889,nssv1453888 M 95 1 1 CCDC165 esv1962484 18 8719478 8719905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000251 S 1 0 1 CCDC165 NA18507 nsv516355 18 8724995 8725545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673204,nssv667750 M 2026 0 2 CCDC165 nsv909363 18 8765184 8848086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530916 S 6533 0 1 CCDC165 MS10311 dgv53n17 18 8766431 8776354 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437820,nsv437821 M 60 0 2 CCDC165 NA18521,NA18857 esv274572 18 8917313 8917656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581354 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv131521 18 8947113 8947113 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150099 M 24 "" esv2468622 18 8953421 8954499 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184788 S 1 1 0 "" NA18507 esv2602541 18 9025128 9026968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351348 S 1 0 1 "" NA18507 esv1713108 18 9025861 9025861 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135699 S 2 1 0 "" HuRef esv2303103 18 9025887 9026554 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558090 S 1 0 1 "" NA18507 esv3961 18 9026029 9026425 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26402 S 1 0 1 Single Asian sample YH "" YH esv1384924 18 9026098 9026387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775237 S 2 0 1 "" HuRef esv2497026 18 9047415 9048436 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348096 S 1 1 0 "" NA18507 esv1179619 18 9048099 9048099 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823281 S 2 1 0 "" HuRef esv5142 18 9071114 9071736 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27583 S 1 0 1 Single Asian sample YH "" YH nsv523325 18 9073702 9078650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699068 S 2026 0 1 "" nsv909364 18 9104096 9176684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535438 S 6533 0 1 ANKRD12,NDUFV2 MS12209 nsv131135 18 9165550 9166274 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149713 M 24 ANKRD12 dgv187n21 18 9167894 9168306 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516645,nsv526584 M 2026 0 5 ANKRD12 esv1632576 18 9186141 9186141 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119710 S 2 1 0 ANKRD12 HuRef esv28200 18 9195217 9196940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15844 S 451 0 1 ANKRD12 NA12414 esv3372 18 9215025 9215602 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25813 S 1 0 1 Single Asian sample YH ANKRD12 YH esv8562 18 9215099 9215480 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31003 S 1 0 1 ANKRD12 SJK dgv54n6 18 9215119 9215455 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv130627,nsv130689 M 24 ANKRD12 esv1009496 18 9215120 9215454 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582476 S 3 0 1 ANKRD12 HuRef nsv2201 18 9237631 9269825 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7365 S 9 0 1 ANKRD12 NA12156 nsv828176 18 9266946 9267822 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437835 S 31 0 1 ANKRD12 NA18949 esv267419 18 9277045 9277130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516746 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 nsv909365 18 9289538 9390422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565101 S 6533 0 1 TWSG1 IS30363 dgv55n6 18 9375392 9375728 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131995,nsv130848 M 24 TWSG1 esv7261 18 9375394 9375739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29702 S 1 0 1 TWSG1 SJK nsv507859 18 9375814 9381814 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620624,nssv617932,nssv623237,nssv619194 M 4 4 0 TWSG1 CHM,NA10860,NA15510,NA18994 esv274543 18 9391380 9391646 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579170 S 7 1 0 Samples from several populations that are part of the HapMap project. TWSG1 NA19239 esv269088 18 9391385 9391718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546162,essv2525227,essv2554946,essv2530830,essv2540127,essv2520975,essv2556962,essv2552489,essv2558948,essv2539229,essv2569715,essv2542203,essv2539239,essv2572918,essv2568577,essv2545086,essv2546074,essv2574166 M 157 18 0 Samples from several populations that are part of the HapMap project. TWSG1 NA11881,NA12156,NA12872,NA12873,NA18489,NA18498,NA18501,NA18502,NA18516,NA18519,NA18520,NA18856,NA18912,NA19143,NA19147,NA19172,NA19239,NA19240 nsv833585 18 9391630 9587291 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453892,nssv1453891,nssv1453890 M 95 1 2 PPP4R1,RALBP1,TWSG1 esv1674060 18 9439200 9439200 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051349 S 2 1 0 "" HuRef nsv458024 18 9548240 9818448 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535089 S 1557 1 0 PPP4R1,RAB31 1782681555_A nsv509683 18 9590019 9593790 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619724 S 4 1 0 PPP4R1 NA10860 esv29650 18 9604223 9604938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13724 S 451 0 1 PPP4R1 NA12489 nsv521175 18 9605851 9613052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697827 S 2026 0 1 "" esv1545571 18 9610377 9610377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136319 S 2 1 0 "" HuRef esv2470365 18 9611431 9613058 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196287 S 1 0 1 "" NA18507 esv2200835 18 9611764 9612370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751059 S 1 0 1 "" NA18507 esv1570821 18 9611961 9612267 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207698 S 2 0 1 "" HuRef nsv131279 18 9611962 9612267 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149857 M 24 "" nsv469897 18 9664498 9860517 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649918 M 265 0 3 Samples from several populations that are part of the HapMap project. RAB31 nsv9606 18 9733017 9745287 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27224 S 31 0 1 Samples from several populations that are part of the HapMap project. RAB31 NA18972 dgv1010e1 18 9733326 9743992 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1430,essv2942 M 271 0 0 RAB31 NA18972 nsv828177 18 9733875 9744292 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433320 S 31 0 1 RAB31 NA18972 nsv817783 18 9736909 9742939 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417571 S 112 0 1 RAB31 NA18972 nsv909366 18 9750942 9817368 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548754 S 6533 1 0 RAB31 MS17878 nsv909367 18 9755845 9777464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506418 S 6533 0 1 RAB31 SP54345 nsv833586 18 9773830 9961693 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453893 S 95 0 1 RAB31,TXNDC2,VAPA esv259550 18 9798968 9799363 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394138,essv2393925,essv2393800,essv2393704,essv2394343 M 6 0 0 Samples from several populations that are part of the HapMap project. RAB31 NA12878,NA12891,NA12892,NA19238,NA19240 esv260000 18 9798968 9799375 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396771,essv2400036,essv2396075,essv2400266,essv2400919,essv2399826,essv2395763,essv2396222,essv2400575,essv2394457,essv2400272,essv2396790,essv2399356,essv2400772,essv2396687,essv2397958,essv2399202,essv2397314,essv2401089,essv2396909,essv2395236,essv2396293,essv2395524,essv2397427,essv2395061,essv2397178,essv2399836,essv2400607,essv2396879,essv2395539,essv2398926,essv2399132,essv2396858,essv2399476,essv2400086,essv2400003,essv2396179,essv2395907,essv2397115,essv2400799,essv2397739,essv2399649,essv2394602,essv2398741,essv2396450,essv2398049,essv2397227,essv2395954,essv2400518 M 144 0 0 Samples from several populations that are part of the HapMap project. RAB31 NA07000,NA07051,NA07346,NA11829,NA11993,NA11994,NA12004,NA12006,NA12043,NA12045,NA12154,NA12249,NA12287,NA12717,NA12750,NA12751,NA12776,NA12878,NA12891,NA12892,NA18499,NA18558,NA18563,NA18566,NA18571,NA18572,NA18573,NA18576,NA18579,NA18593,NA18603,NA18609,NA18638,NA18858,NA18861,NA18940,NA18944,NA18945,NA18951,NA18952,NA18956,NA18964,NA18965,NA19005,NA19138,NA19147,NA19225,NA19238,NA19240 nsv9607 18 9804637 9806374 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24342,nssv27252,nssv27234,nssv24863,nssv23330,nssv24914,nssv23728,nssv26589,nssv24155 M 31 0 9 Samples from several populations that are part of the HapMap project. RAB31 NA12740,NA18517,NA18537,NA18563,NA18564,NA18942,NA18972,NA18975,NA19240 nsv820745 18 9804979 9806456 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419975 S 1 0 1 RAB31 NA10851 esv25767 18 9805046 9806215 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12113 S 451 0 12 RAB31 NA06985,NA12004,NA12239,NA18505,NA18517,NA18861,NA18907,NA18909,NA19099,NA19147,NA19225,NA19240 esv5001 18 9805230 9806309 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27442 S 1 0 1 Single Asian sample YH RAB31 YH esv999723 18 9826769 9826773 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569233 S 3 1 0 RAB31 HuRef nsv507860 18 9838078 9844078 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623238,nssv620625,nssv619195 M 4 3 0 RAB31 NA10860,NA15510,NA18994 esv2626874 18 9867058 9868504 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331053 S 1 0 1 "" NA18507 esv2032290 18 9867364 9868075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887044 S 1 0 1 "" NA18507 nsv527829 18 9872587 9915700 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704325 S 2026 1 0 TXNDC2,VAPA esv24761 18 9903879 9904977 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18986 S 451 0 1 VAPA NA12489 esv2012315 18 9913110 9913560 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782742 S 1 0 1 VAPA NA18507 esv5283 18 9913225 9913455 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27724 S 1 0 1 Single Asian sample YH VAPA YH nsv131733 18 9913242 9913336 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150311 M 24 VAPA esv1000474 18 9913257 9913351 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572246 S 3 0 1 VAPA HuRef esv1026283 18 9913337 9913432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982155 S 2 0 1 VAPA HuRef nsv131589 18 9913338 9913432 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150167 M 24 VAPA nsv526637 18 9941304 9947918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702959 S 2026 0 1 VAPA nsv518334 18 9984685 10122916 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695763 S 2026 1 0 "" esv24104 18 10124666 10135472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14276 S 451 0 1 "" NA19147 nsv909368 18 10132323 10262979 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548755 S 6533 1 0 "" MS17878 esv25155 18 10140590 10141050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20175 S 451 0 1 "" NA11993 nsv132087 18 10140893 10141048 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150665 M 24 "" nsv833587 18 10200667 10367230 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453894 S 95 1 0 "" nsv512515 18 10211993 10213628 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625117 S 1 0 1 "" 1 esv1965999 18 10212112 10213776 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579986 S 1 0 1 "" NA18507 esv8558 18 10212226 10213615 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30999 S 1 0 1 "" SJK esv3991 18 10212239 10213715 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26432 S 1 0 1 Single Asian sample YH "" YH esv993653 18 10265323 10276200 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563993 S 3 0 1 "" HuRef nsv909369 18 10265935 10296854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553711 S 6533 0 1 "" MS20251 esv267933 18 10298829 10299012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494829,essv2506308,essv2507201,essv2513434,essv2510889,essv2509481,essv2498765 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18523,NA18870,NA18907,NA19116,NA19129,NA19138 esv994272 18 10321018 10321157 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572294 S 3 0 1 "" HuRef esv1456623 18 10321020 10321160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718807 S 2 0 1 "" HuRef nsv521207 18 10334360 10340887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700290,nssv685117,nssv692448 M 2026 0 3 "" esv2206189 18 10335240 10335671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920553 S 1 0 1 "" NA18507 esv2066236 18 10346938 10347320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796414 S 1 0 1 "" NA18507 esv1008907 18 10404444 10404444 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569677 S 3 1 0 "" HuRef esv1275289 18 10404574 10404574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716022 S 2 1 0 "" HuRef esv33029 18 10448243 10448572 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99313 S 51 1 0 APCDD1 22275 esv2443287 18 10451908 10453315 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274041 S 1 0 1 APCDD1 NA18507 esv1968192 18 10452247 10452821 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681334 S 1 0 1 APCDD1 NA18507 esv3055 18 10452376 10452805 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25496 S 1 0 1 Single Asian sample YH APCDD1 YH esv988512 18 10452407 10452654 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576826 S 3 0 1 APCDD1 HuRef nsv131991 18 10452423 10452669 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150569 M 24 APCDD1 esv5818 18 10452447 10452676 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28259 S 1 0 1 APCDD1 SJK nsv458026 18 10477443 10505294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535090 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APCDD1 HGDP01372 nsv909370 18 10556581 10594362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548756 S 6533 1 0 "" MS17878 nsv525588 18 10568697 10586536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701727 S 2026 0 1 "" nsv2202 18 10598248 10632111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2978 S 9 1 0 "" NA18555 nsv909371 18 10639422 10666435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574047 S 6533 1 0 PIEZO2 IS33504 nsv2203 18 10699396 10728627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10146 S 9 1 0 PIEZO2 NA18956 nsv833588 18 10726486 10958885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453895 S 95 1 0 PIEZO2 esv29564 18 10744158 10747494 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19088,esv19605 M 451 3 0 PIEZO2 NA06985,NA12044,NA12156 esv2260074 18 10747246 10747724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827872 S 1 0 1 PIEZO2 NA18507 nsv828178 18 10787582 10788309 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431715,nssv1434777,nssv1426210,nssv1425394 M 31 4 0 PIEZO2 AK18,AK2,AK4,NA18570 nsv470408 18 10804334 10844509 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547073 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIEZO2 HGDP00696 nsv458028 18 10804334 10853849 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535091 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIEZO2 HGDP00696 nsv458029 18 10804334 11652151 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535092 S 1557 1 0 PIEZO2 1782681555_A nsv909372 18 10813628 10872121 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548757 S 6533 1 0 PIEZO2 MS17878 nsv828179 18 10838096 10838550 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439364 S 31 1 0 PIEZO2 NA18973 esv267768 18 10853663 10853909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504684,essv2509546 M 157 2 0 Samples from several populations that are part of the HapMap project. PIEZO2 NA19099,NA19129 nsv909373 18 10878930 10918707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521266 S 6533 0 1 PIEZO2 SP52320 esv1115779 18 10901136 10901136 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740435 S 2 1 0 PIEZO2 HuRef dgv3384n71 18 10903663 10998835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909379,nsv909375,nsv909378,nsv909376,nsv909374 M 6533 0 5 PIEZO2 MS21905,MS22797,MS24624,MS25750,SP54223 nsv909377 18 10918707 10965610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554372 S 6533 0 1 PIEZO2 MS20753 nsv909380 18 10930211 11019609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582094 S 6533 0 1 PIEZO2 IS35788 esv1001413 18 11004272 11004326 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586000 S 3 0 1 PIEZO2 HuRef nsv131984 18 11005115 11005284 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150562 M 24 PIEZO2 nsv833589 18 11283101 11444521 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453896 S 95 1 0 "" esv275231 18 11287066 11296074 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586180 S 1250 0 1 "" esv275015 18 11412601 11414685 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585919 S 1250 0 1 "" nsv909381 18 11421945 11599487 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548758 S 6533 1 0 "" MS17878 nsv516281 18 11461820 11462102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672108,nssv667317 M 2026 0 2 "" nsv2204 18 11489825 11534209 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2189 S 9 0 1 "" NA18555 esv267972 18 11496350 11496538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503260,essv2504510,essv2511258,essv2500684,essv2494475,essv2511594,essv2495991 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18563,NA18570,NA18571,NA18572,NA18940,NA18961 esv2586381 18 11499257 11502103 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356075 S 1 0 1 "" NA18507 esv7265 18 11499514 11501290 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29706 S 1 0 0 "" SJK esv2236416 18 11499528 11501613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959095 S 1 0 1 "" NA18507 nsv820459 18 11499609 11501491 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419976 S 1 0 1 "" NA10851 nsv512516 18 11499610 11501504 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625118 S 1 0 1 "" 1 esv9579 18 11499700 11501474 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32020 S 1 0 1 "" SJK nsv131377 18 11499706 11501474 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149955 M 24 "" esv23552 18 11499973 11501491 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15616,esv18553 M 451 7 12 "" NA07045,NA11995,NA12004,NA12044,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18909,NA18916,NA19114,NA19129,NA19147,NA19190,NA19257 esv1956970 18 11511294 11511632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555093 S 1 0 1 "" NA18507 nsv131616 18 11511743 11511743 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150194 M 24 "" nsv2205 18 11534143 11535718 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6743 S 9 1 0 "" NA12156 nsv520209 18 11547161 11554905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697282 S 2026 0 1 "" nsv519488 18 11552631 11555370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656397,nssv674021,nssv686708 M 2026 0 3 "" esv259636 18 11562074 11562330 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394106,essv2393669,essv2394255 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19240 esv259803 18 11562086 11562343 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399095,essv2399721,essv2397358,essv2395613,essv2396607,essv2394964,essv2400068,essv2394641,essv2395452,essv2400827,essv2394568,essv2396345,essv2399692,essv2395914,essv2400456 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12828,NA12878,NA18501,NA18507,NA18511,NA18861,NA18870,NA18948,NA18952,NA18965,NA19138,NA19210,NA19238,NA19240 esv8146 18 11562229 11562316 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30587 S 1 1 0 "" SJK esv25238 18 11600070 11635495 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19197,esv11091 M 451 7 0 "" NA12006,NA12239,NA12414,NA12489,NA18502,NA19129,NA19225 nsv820969 18 11600070 11635495 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419977 S 1 0 1 "" NA10851 dgv53n16 18 11601345 11635370 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435693,nsv436243 M 2 0 2 "" NA15510,NA18505 nsv524533 18 11660845 11673431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700483 S 2026 0 1 "" nsv518207 18 11660845 11685676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695631 S 2026 0 1 GNAL nsv130708 18 11669607 11671299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149286 M 24 "" nsv516128 18 11673431 11685676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668546,nssv680483,nssv669192,nssv692491,nssv690447,nssv679994,nssv666392,nssv671148,nssv690798,nssv667147,nssv683589,nssv673586,nssv684569,nssv654726 M 2026 0 14 GNAL nsv833590 18 11747329 11914539 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453897 S 95 1 0 CHMP1B,GNAL,MPPE1 esv6550 18 11782025 11782130 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28991 S 1 1 0 GNAL SJK nsv828180 18 11792641 11798013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423838 S 31 0 1 GNAL NA18999 esv2115144 18 11816059 11816555 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754241 S 1 0 1 GNAL NA18507 esv4523 18 11816161 11816549 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26964 S 1 0 1 Single Asian sample YH GNAL YH nsv131836 18 11816236 11816299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150414 M 24 GNAL esv27176 18 11854890 11856873 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11594 S 451 0 9 GNAL NA18508,NA18858,NA18907,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 nsv909382 18 11860015 11882860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530917 S 6533 0 1 GNAL,MPPE1 MS10311 nsv525904 18 11863934 11869825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702108 S 2026 0 1 GNAL esv2432184 18 11864328 11864977 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234885 S 1 1 0 GNAL NA18507 esv1495837 18 11864570 11864570 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858426 S 2 1 0 GNAL HuRef dgv1011e1 18 11887023 12066102 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7746,esv440,essv10693,essv14725,essv10951 M 271 0 0 IMPA2,MPPE1 NA18542,NA18855,NA19159,NA19209 nsv909383 18 11894266 11916730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499536 S 6533 1 0 MPPE1 SP50171 nsv909384 18 11897374 12091109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548759 S 6533 1 0 IMPA2,MPPE1 MS17878 esv2034781 18 11908328 11908904 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635974 S 1 0 1 "" NA18507 nsv2206 18 11909202 11936727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10148 S 9 1 0 "" NA18956 nsv909385 18 11928102 11976557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592397 S 6533 0 1 IMPA2 IS39233 nsv909386 18 11928102 12085950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530918 S 6533 0 1 IMPA2 MS10311 nsv909387 18 11943187 11976557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596079 S 6533 0 1 IMPA2 IS40396 esv2590619 18 11960990 11962739 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389655 S 1 0 1 "" NA18507 esv1998748 18 11961721 11962436 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837384 S 1 0 1 "" NA18507 dgv17e197 18 11961919 11962250 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2475431,esv2431830 M 1 0 1 "" NA18507 dgv3385n71 18 11977988 12145371 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909388,nsv909393,nsv909392,nsv909391,nsv909389,nsv909390,nsv909394 M 6533 8 0 IMPA2 MS10106,SP50585,SP50755,SP50876,SP51031,SP53515,SP81030,SP81538 nsv528699 18 11979416 12019857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705345 S 2026 0 1 IMPA2 esv9600 18 12017399 12017453 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32041 S 1 1 0 IMPA2 SJK dgv3386n71 18 12047195 12073314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909396,nsv909397,nsv909395 M 6533 0 3 "" IS37646,MS11022,SP55021 esv26512 18 12050305 12053440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16174,esv11123 M 451 0 2 "" NA18505,NA19240 nsv828181 18 12055246 12081392 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427134 S 31 1 0 "" AK6 nsv9608 18 12062482 12068283 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28373 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv909398 18 12073552 12111294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548121 S 6533 0 1 "" MS17697 nsv909399 18 12073552 12131372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537153 S 6533 0 1 "" MS13095 nsv828182 18 12076983 12079097 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421775 S 31 1 0 "" NA18969 esv1290018 18 12134389 12137214 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357480 S 2 0 0 "" HuRef esv1007632 18 12167862 12168073 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582659 S 3 0 1 "" HuRef esv1019181 18 12167873 12168085 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698638 S 2 0 1 "" HuRef nsv507861 18 12190955 12196955 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620626,nssv617933,nssv623239 M 4 3 0 "" CHM,NA15510,NA18994 nsv909400 18 12191374 12575545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524618 S 6533 0 1 AFG3L2,CIDEA,SLMO1,SPIRE1,TUBB6 SP55126 nsv909401 18 12201483 12302075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548760 S 6533 1 0 CIDEA,TUBB6 MS17878 dgv3387n71 18 12201483 12315222 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909402,nsv909403 M 6533 0 2 CIDEA,TUBB6 MS10311,MS17208 nsv131748 18 12221204 12221204 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150326 M 24 "" dgv1012e1 18 12230681 12489525 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4203,esv140 M 271 0 0 AFG3L2,CIDEA,SLMO1,SPIRE1,TUBB6 NA18526 nsv819744 18 12341281 12344053 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419478 S 2 0 1 AFG3L2 AK1 nsv9609 18 12386442 12389505 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26112,nssv26603,nssv24539,nssv27567 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA18860,NA19240 esv273537 18 12386594 12386903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581548,essv2581219 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv909404 18 12399955 12428402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503852 S 6533 0 1 SLMO1 SP52117 nsv9610 18 12407586 12414527 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28375 S 31 1 0 Samples from several populations that are part of the HapMap project. SLMO1 NA19221 nsv519557 18 12407905 12421506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683891,nssv656838 M 2026 0 2 SLMO1 nsv130656 18 12415482 12416552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149234 M 24 SLMO1 nsv130820 18 12451596 12451596 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149398 M 24 SPIRE1 nsv2207 18 12462444 12483521 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4302,nssv1395 M 9 2 0 SPIRE1 NA12878,NA19240 nsv2208 18 12462999 12508189 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7366 S 9 0 1 SPIRE1 NA12156 nsv523743 18 12464505 12732809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699559 S 2026 0 1 CEP76,PSMG2,SPIRE1 nsv511600 18 12492514 12495089 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626229 S 1 0 1 SPIRE1 1 nsv512517 18 12493410 12494665 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625119 S 1 0 1 SPIRE1 1 esv28832 18 12493702 12494211 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9833 S 451 0 1 SPIRE1 NA18505 nsv131761 18 12581993 12583952 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150339 M 24 SPIRE1 esv28888 18 12647165 12648579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15559 S 451 0 1 SPIRE1 NA12489 esv33130 18 12701423 12705465 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101000 S 51 0 1 PSMG2 21693 nsv909405 18 12717224 12740499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501455 S 6533 0 1 "" SP50943 nsv909406 18 12717224 12751498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506523 S 6533 0 1 "" SP54367 esv275378 18 12769947 12773335 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585125 S 1250 0 1 "" esv3172 18 12841127 12841734 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25613 S 1 0 1 Single Asian sample YH PTPN2 YH nsv130834 18 12841183 12841511 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149412 M 24 PTPN2 nsv131711 18 12842004 12842004 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150289 M 24 PTPN2 nsv909407 18 12867060 12907703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511553 S 6533 0 1 PTPN2 SP55021 esv274245 18 12874807 12875018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580427,essv2579934 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv268815 18 12874809 12874914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504617,essv2510468,essv2501804,essv2498113,essv2502196 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA19099,NA19172,NA19239,NA19240,NA19257 nsv132152 18 12875273 12880021 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150730 M 24 "" esv270040 18 12922585 12922670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519123 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv437176 18 13048494 13058132 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467057 S 60 0 1 Samples from several populations that are part of the HapMap project. CEP192 NA07348 nsv833591 18 13083777 13243748 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453899,nssv1453898 M 95 2 0 C18orf1,CEP192 esv3139 18 13096383 13096648 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25580 S 1 0 1 Single Asian sample YH CEP192 YH nsv515878 18 13112618 13132415 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655550,nssv692377,nssv665121,nssv682349,nssv672899,nssv671937 M 2026 0 6 CEP192 dgv3388n71 18 13112618 13298950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909410,nsv909408 M 6533 0 2 C18orf1,CEP192 MS10311,MS17208 nsv817785 18 13120681 13123577 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416809,nssv1416808 M 112 0 2 "" NA19159,NA19161 esv2534756 18 13132662 13134576 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261931 S 1 0 1 "" NA18507 esv2143620 18 13132965 13134355 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685868 S 1 0 1 "" NA18507 esv22020 18 13133387 13134152 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9930 S 451 2 3 "" NA12414,NA12489,NA12749,NA19099,NA19257 nsv820778 18 13133387 13134152 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419978 S 1 0 1 "" NA10851 nsv909409 18 13141544 13230284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543757 S 6533 0 1 C18orf1 MS16153 esv1042878 18 13142466 13142466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264696 S 2 1 0 "" HuRef nsv524245 18 13178524 13178836 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700137 S 2026 1 0 "" nsv828183 18 13201474 13212376 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428715 S 31 1 0 C18orf1 AK10 esv2182710 18 13222298 13222753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983845 S 1 0 1 C18orf1 NA18507 nsv131306 18 13222455 13222530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149884 M 24 C18orf1 esv998847 18 13251093 13253956 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564574 S 3 1 0 C18orf1 HuRef esv1008130 18 13251871 13253196 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586650 S 3 0 1 C18orf1 HuRef esv26175 18 13251871 13253406 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12934 S 451 11 2 C18orf1 NA11993,NA12004,NA12239,NA12749,NA12776,NA15510,NA18508,NA18858,NA18861,NA18916,NA19147,NA19225,NA19257 nsv2209 18 13266410 13306570 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7367 S 9 0 1 C18orf1 NA12156 nsv828184 18 13375973 13376666 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437107 S 31 1 0 C18orf1 NA18542 nsv909411 18 13415604 13483554 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548761 S 6533 1 0 C18orf1,LOC100288122 MS17878 esv28046 18 13484918 13485928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18417 S 451 0 1 C18orf1 NA19108 nsv131518 18 13576421 13576861 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150096 M 24 C18orf1 nsv2211 18 13588706 13604926 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5689 S 9 1 0 C18orf1,MIR4526 NA19129 nsv909412 18 13596184 13650590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530921 S 6533 0 1 C18orf1,MIR4526 MS10311 nsv131156 18 13649843 13653204 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149734 M 24 "" esv28578 18 13662294 13666728 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20894 S 451 0 17 C18orf19 NA07037,NA11993,NA12004,NA12749,NA12828,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240,NA19257 nsv821605 18 13662883 13666728 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419979 S 1 0 1 C18orf19 NA10851 esv1001818 18 13663121 13666538 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586391 S 3 0 1 C18orf19 HuRef esv1025327 18 13664316 13664448 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209139 S 2 0 1 C18orf19 HuRef esv1408829 18 13664475 13664742 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796000 S 2 0 1 C18orf19 HuRef esv1105405 18 13665114 13665298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853057 S 2 0 1 C18orf19 HuRef esv1773722 18 13665432 13665837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322323 S 2 0 1 C18orf19 HuRef esv1692955 18 13666069 13666165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734961 S 2 0 1 C18orf19 HuRef esv8144 18 13751597 13751656 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30585 S 1 1 0 RNMT SJK nsv909413 18 13770084 13830147 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548762 S 6533 1 0 MC5R MS17878 nsv507862 18 13770399 13776399 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623240 S 4 1 0 "" NA18994 nsv523660 18 13800828 13805680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699461 S 2026 0 1 "" nsv525155 18 13800828 13809673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701227 S 2026 0 1 "" esv1184151 18 13813327 13813327 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885934 S 2 1 0 "" HuRef nsv521602 18 13844080 13855075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698218 S 2026 0 1 "" nsv909414 18 13872486 13884260 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503365 S 6533 1 0 MC2R SP52039 esv1935496 18 13876957 13877310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603786 S 1 0 1 MC2R NA18507 esv2224461 18 13877026 13877560 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746212 S 1 0 1 MC2R NA18507 esv989455 18 13877179 13877386 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565880 S 3 0 1 MC2R HuRef nsv523316 18 13942711 13972662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699058 S 2026 0 1 "" nsv507863 18 13963750 13969750 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619196 S 4 1 0 "" NA10860 esv2519798 18 13972019 13972828 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179445 S 1 1 0 "" NA18507 esv1381315 18 13972056 13972056 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247091 S 2 1 0 "" HuRef nsv909415 18 13977292 14307766 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577205 S 6533 1 0 ANKRD20A5P,ZNF519 IS34386 dgv1013e1 18 13988748 15367893 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4840,esv791 M 271 0 0 ANKRD20A5P,ANKRD30B,CXADRP3,LOC284233,LOC644669,MIR3156-2,POTEC,ZNF519 NA18540 esv33327 18 14027144 14027487 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99776 S 51 0 1 "" 22086 esv22431 18 14040861 14041522 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18690 S 451 0 1 "" NA19190 nsv909416 18 14042668 14170547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548763 S 6533 1 0 ANKRD20A5P,ZNF519 MS17878 nsv131218 18 14046518 14047216 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149796 M 24 "" nsv520945 18 14066972 14255834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697702 S 2026 0 1 ANKRD20A5P,ZNF519 nsv909417 18 14067381 14127657 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586431 S 6533 1 0 ZNF519 IS37784 nsv828185 18 14071628 14073540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426211 S 31 1 0 ZNF519 AK4 essv3388 18 14077067 14251361 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD20A5P,ZNF519 NA18945 nsv516839 18 14085439 14087884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654375,nssv675021 M 2026 0 2 ZNF519 nsv528944 18 14085439 14095853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705636 S 2026 0 1 ZNF519 nsv828187 18 14094784 14096367 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430419 S 31 1 0 ZNF519 NA18968 esv994375 18 14094814 14096367 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587229 S 3 0 1 ZNF519 HuRef esv27400 18 14095035 14104011 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14260 S 451 1 0 ZNF519 NA15510 nsv525471 18 14127657 14298620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701599 S 2026 1 0 ANKRD20A5P nsv9611 18 14129951 14141707 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27240,nssv28377 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 nsv909418 18 14140724 14195995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511925 S 6533 1 0 ANKRD20A5P SP55174 nsv909419 18 14140724 14216633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506869 S 6533 0 1 ANKRD20A5P SP54409 dgv3389n71 18 14162163 14241213 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909423,nsv909420 M 6533 3 0 ANKRD20A5P SP50532,SP56549,SP56766 nsv909421 18 14170547 14298620 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588135 S 6533 1 0 ANKRD20A5P IS38162 dgv3390n71 18 14170547 14435897 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909422,nsv909424 M 6533 2 0 ANKRD20A5P,LOC284233 MS17130,MS24900 nsv9612 18 14172152 14181251 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24368,nssv24918,nssv26131,nssv23847 M 31 4 0 Samples from several populations that are part of the HapMap project. ANKRD20A5P NA10863,NA12155,NA18537,NA18564 essv21603 18 14198563 14548050 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD20A5P,CXADRP3,LOC284233,POTEC NA12155 nsv909425 18 14216633 14325306 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532064 S 6533 1 0 ANKRD20A5P MS10699 essv5519 18 14233252 14962122 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30B,CXADRP3,LOC284233,MIR3156-2,POTEC NA18529 nsv526752 18 14243537 14255834 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703099 S 2026 1 0 "" nsv9614 18 14243872 14326527 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28379,nssv26150,nssv27244,nssv24392,nssv27575,nssv27075,nssv27250 M 31 5 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18552,NA18860,NA18972,NA19132,NA19221 esv21493 18 14245121 14323732 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18852,esv15523,esv10528 M 451 36 0 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv9012 18 14249218 14268438 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31453 S 1 0 1 "" SJK esv990285 18 14258331 14305220 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564594 S 3 0 1 "" HuRef nsv2212 18 14266803 14299431 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5690 S 9 1 0 "" NA19129 nsv2213 18 14267319 14292749 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6745 S 9 0 1 "" NA12156 nsv821116 18 14269741 14288312 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419980 S 1 0 1 "" NA10851 nsv909426 18 14409170 14485615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503829 S 6533 0 1 CXADRP3 SP52114 esv22403 18 14421322 14589321 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19881,esv16841,esv13975 M 451 5 3 CXADRP3,POTEC NA07037,NA11931,NA12044,NA15510,NA18858,NA18861,NA18907,NA19240 nsv833593 18 14422183 14599021 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453909,nssv1453911,nssv1453906,nssv1453907,nssv1453905,nssv1453902,nssv1453901,nssv1453903,nssv1453910,nssv1453908,nssv1453900,nssv1453904 M 95 12 0 CXADRP3,POTEC nsv819182 18 14424194 14532394 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418918 S 2 1 0 CXADRP3,POTEC AK1 nsv9615 18 14431576 14599353 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24181,nssv21190,nssv27085,nssv27254,nssv23755,nssv23358,nssv26578,nssv26629,nssv24394,nssv26616,nssv27260,nssv26199,nssv25745,nssv24939,nssv25087 M 31 5 9 Samples from several populations that are part of the HapMap project. CXADRP3,POTEC NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18563,NA18564,NA18942,NA18972,NA18975,NA19132,NA19144,NA19240 nsv2214 18 14439752 14451382 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6746 S 9 0 1 "" NA12156 dgv3391n71 18 14463743 14538204 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909428,nsv909427 M 6533 3 0 CXADRP3,POTEC SP54875,SP56549,SP56927 nsv514861 18 14467547 14584525 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627185 S 1414 0 0 CXADRP3,POTEC nsv909429 18 14514300 14593859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548764 S 6533 1 0 POTEC MS17878 nsv909430 18 14514300 14618542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565666 S 6533 0 1 POTEC IS30493 nsv909431 18 14514300 14741049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526498 S 6533 0 1 ANKRD30B,POTEC SP57600 nsv909432 18 14516439 14580752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505366 S 6533 0 1 POTEC SP53440 nsv510732 18 14528883 14557998 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622730 S 4 0 1 POTEC NA18994 dgv73e180 18 14539344 14540805 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997220,esv999198 M 3 0 1 "" HuRef nsv436236 18 14541582 14558944 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465636 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv828188 18 14571589 14584347 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436663 S 31 1 0 "" NA18592 nsv523173 18 14574726 14724475 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698885 S 2026 1 0 "" nsv442431 18 14583863 14594228 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv27637 18 14602921 14606051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14524 S 451 0 2 "" NA19108,NA19190 nsv2215 18 14636188 14671278 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4303 S 9 1 0 "" NA12878 esv2751771 18 14694694 15096727 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984124,essv6984123 M 771 0 1 ANKRD30B,MIR3156-2 BEC_779 nsv9616 18 14701431 14704052 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24420,nssv23899,nssv21220 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA12802,NA18564 nsv909433 18 14701974 14787570 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595756 S 6533 1 0 ANKRD30B IS40310 esv2421993 18 14712006 14748540 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111665,essv5024267,essv5093582,essv5003912,essv5084732,essv5046808,essv5093233,essv5120128,essv5016798,essv5155116,essv5067479,essv5151773,essv5012154,essv5005469,essv5073586,essv5137476,essv5089309,essv5014719,essv5070943,essv5135131,essv5019120,essv5055913,essv5055803,essv5007524,essv5138685,essv5139367,essv5043950,essv5013319,essv5059996,essv5099728,essv5151060,essv5059004,essv5119944,essv5030956,essv5014448,essv5128673,essv5006304,essv5035065,essv5017396,essv5104166,essv5033816,essv5021352,essv5109601,essv5039471,essv5097610,essv5149147,essv5100258,essv5046017,essv5021773,essv5135478,essv5103087,essv5083968,essv5069716,essv5130333,essv5035355,essv5142574,essv5154184,essv5079546,essv5056181,essv5141637,essv5119922,essv5062789,essv5034486,essv5100264,essv5092799,essv5116946,essv5090788,essv5015958,essv5057480,essv5091828,essv5062504,essv5131534,essv5138012,essv5155523,essv5067788,essv5042723,essv5003508,essv5062710,essv5039799,essv5099655,essv5110504,essv5102803,essv5053989,essv5035655,essv5108382,essv5100496,essv5121129,essv5076050,essv5054303,essv5034961,essv5082921,essv5043387,essv5081050,essv5087069,essv5013642,essv5038831,essv5068305,essv5160608,essv5046932,essv5089732,essv5137334,essv5089495,essv5084168,essv5031043,essv5002488,essv5153020,essv5082989,essv5066005,essv5135617,essv5021779,essv5027240,essv5147598,essv5109361,essv5143524,essv5039061,essv5111372,essv5061450,essv5022188,essv5012259,essv5090830,essv5115454,essv5032654,essv5098240,essv5141438,essv5042330,essv5049319,essv5122251,essv5149368,essv5095785,essv5006888,essv5157298,essv5109800,essv5098421,essv5130994,essv5133554,essv5051525,essv5087716,essv5149375,essv5125352,essv5147805,essv5086620,essv5071376,essv5052720,essv5127029,essv5076920,essv5090492,essv5057623,essv5044006,essv5050202,essv5022528,essv5079808,essv5057934,essv5009481,essv5145880,essv5153674,essv5005577,essv5081874,essv5019102,essv5028877,essv5098447,essv5151911,essv5121077,essv5111529,essv5098516,essv5077293,essv5027250,essv5109077,essv5063195,essv5076794,essv5091768,essv5149133,essv5073854,essv5112828,essv5019456,essv5080368,essv5158447,essv5145303,essv5139875,essv5025048,essv5067340,essv5011508,essv5107543,essv5055309,essv5047775,essv5069208,essv5062330,essv5097620,essv5136937,essv5152864,essv5104854,essv5032997,essv5144376,essv5003231,essv5134651,essv5004277,essv5065631,essv5035189,essv5118935,essv5054119,essv5027662,essv5071067,essv5140945,essv5110378,essv5144651,essv5089591,essv5131950,essv5046092,essv5106184,essv5135394,essv5156365,essv5072106,essv5079368,essv5046369,essv5048784,essv5111272,essv5077825,essv5072204,essv5098174,essv5101389,essv5081431,essv5028722,essv5113930,essv5138904,essv5118435,essv5045742,essv5062644,essv5109996,essv5121259,essv5035466,essv5088743,essv5046243,essv5024375,essv5106011,essv5042331,essv5025362,essv5039251,essv5019023,essv5110505,essv5097662,essv5053612,essv5045655,essv5053953,essv5156793,essv5063242,essv5084917 M 1184 245 0 ANKRD30B NA06989,NA07014,NA10839,NA10854,NA10861,NA10864,NA11840,NA11893,NA11931,NA11995,NA12006,NA12056,NA12145,NA12335,NA12341,NA12342,NA12413,NA12740,NA12750,NA12767,NA12778,NA12878,NA12891,NA17962,NA17966,NA17970,NA17974,NA17976,NA17981,NA17987,NA17990,NA17993,NA17995,NA17999,NA18102,NA18122,NA18124,NA18129,NA18131,NA18133,NA18134,NA18135,NA18136,NA18138,NA18143,NA18144,NA18146,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18166,NA18488,NA18501,NA18505,NA18532,NA18534,NA18537,NA18543,NA18545,NA18546,NA18548,NA18550,NA18552,NA18558,NA18559,NA18561,NA18562,NA18582,NA18605,NA18610,NA18614,NA18618,NA18619,NA18622,NA18626,NA18627,NA18631,NA18640,NA18645,NA18647,NA18674,NA18689,NA18740,NA18757,NA18858,NA18860,NA18871,NA18872,NA18873,NA18875,NA18909,NA18911,NA18913,NA18939,NA18940,NA18942,NA18943,NA18944,NA18948,NA18956,NA18962,NA18964,NA18968,NA18973,NA18977,NA18979,NA18981,NA18990,NA18994,NA18999,NA19002,NA19038,NA19046,NA19054,NA19056,NA19070,NA19072,NA19076,NA19078,NA19085,NA19088,NA19095,NA19096,NA19097,NA19113,NA19115,NA19171,NA19173,NA19206,NA19208,NA19210,NA19213,NA19215,NA19224,NA19225,NA19238,NA19309,NA19311,NA19317,NA19374,NA19381,NA19383,NA19390,NA19399,NA19403,NA19431,NA19443,NA19449,NA19457,NA19474,NA19701,NA19712,NA19713,NA19746,NA19770,NA19772,NA19776,NA19778,NA19794,NA19982,NA19985,NA20129,NA20287,NA20288,NA20289,NA20332,NA20333,NA20341,NA20359,NA20505,NA20517,NA20518,NA20521,NA20522,NA20527,NA20542,NA20582,NA20754,NA20768,NA20786,NA20795,NA20796,NA20808,NA20815,NA20816,NA20819,NA20828,NA20846,NA20851,NA20852,NA20856,NA20859,NA20869,NA20883,NA20885,NA20888,NA20894,NA20895,NA20908,NA20910,NA21090,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21105,NA21116,NA21123,NA21143,NA21300,NA21357,NA21363,NA21365,NA21367,NA21378,NA21383,NA21385,NA21387,NA21389,NA21391,NA21415,NA21439,NA21440,NA21477,NA21479,NA21486,NA21487,NA21493,NA21494,NA21510,NA21575,NA21576,NA21683,NA21693,NA21716,NA21718,NA21723,NA21741 nsv9617 18 14726667 14738499 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23510,nssv24943,nssv24964,nssv24821,nssv23782,nssv26218,nssv24625 M 31 2 5 Samples from several populations that are part of the HapMap project. ANKRD30B NA07029,NA10839,NA12155,NA12740,NA18537,NA18975,NA18980 esv24597 18 14726743 14732594 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14599 S 451 1 0 "" NA18858 nsv510449 18 14728143 14734143 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618435,nssv622276 M 4 0 2 "" CHM,NA10860 dgv1014e1 18 14731611 14855985 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17854,essv21877 M 271 0 0 ANKRD30B,MIR3156-2 NA06991,NA10857 essv24101 18 14743891 14828909 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30B,MIR3156-2 NA07048 esv21571 18 14760192 14762361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10278 S 451 0 1 ANKRD30B NA19257 nsv2216 18 14766359 14831989 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9972,nssv10149,nssv1396,nssv5691 M 9 0 4 ANKRD30B,MIR3156-2 NA18507,NA18956,NA19129,NA19240 esv2107318 18 14771512 14772327 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827218 S 1 0 1 ANKRD30B NA18507 nsv514862 18 14773504 14774600 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627187 S 1414 0 0 ANKRD30B nsv9618 18 14774248 14807724 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21641,nssv26592 M 31 1 1 Samples from several populations that are part of the HapMap project. ANKRD30B NA12872,NA18504 essv21900 18 14782614 14845278 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30B,MIR3156-2 NA10838 esv22961 18 14789518 14805415 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19254 S 451 0 2 ANKRD30B NA18517,NA19114 nsv498876 18 14789957 14801249 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585737 S 9 0 1 ANKRD30B nsv436247 18 14793857 14801075 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465637 S 2 0 1 Samples from several populations that are part of the HapMap project. ANKRD30B NA18505 esv2397925 18 14812773 14813504 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935259 S 1 0 1 ANKRD30B NA18507 esv999230 18 14812943 14813305 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576342 S 3 0 1 ANKRD30B HuRef esv2429241 18 14812948 14813310 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176841 S 1 0 1 ANKRD30B NA18507 esv1712682 18 14812955 14813318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918555 S 2 0 1 ANKRD30B HuRef dgv1015e1 18 14817332 14998645 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5399,essv883 M 271 0 0 ANKRD30B,MIR3156-2 NA18563,NA19000 nsv909434 18 14831828 15139366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565858 S 6533 1 0 ANKRD30B IS30531 nsv9619 18 14832691 14841922 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24846 S 31 0 1 Samples from several populations that are part of the HapMap project. ANKRD30B NA18980 nsv512518 18 14845492 14850951 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625120 S 1 0 1 "" 1 esv22233 18 14854416 14855648 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13946 S 451 0 1 "" NA18907 nsv9620 18 14858404 14886940 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24207,nssv27300 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18563 nsv2217 18 14892173 14926129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4304 S 9 1 0 "" NA12878 nsv132082 18 14911129 14911129 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150660 M 24 "" esv33381 18 14919347 15042868 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98695 S 51 1 0 "" 21606 esv2582130 18 14921263 14922084 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300562 S 1 1 0 "" NA18507 nsv513491 18 14921763 14922240 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625899 S 1 1 0 "" 1 nsv437822 18 14928839 14937953 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467703 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv526858 18 14930293 14944303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703216 S 2026 1 0 "" dgv1016e1 18 14979964 15367893 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21680,essv1891 M 271 0 0 LOC644669 NA12248,NA18976 nsv909435 18 14987823 15120158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582029 S 6533 1 0 "" IS35771 nsv511061 18 15026919 15101569 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621642 S 4 0 0 "" NA15510 dgv3392n71 18 15034574 15079396 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909437,nsv909438,nsv909441 M 6533 0 7 "" SP50652,SP52094,SP52925,SP54356,SP55856,SP56207,SP57270 dgv3393n71 18 15034574 15139366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909443,nsv909439 M 6533 0 2 "" MS18947,SP55650 nsv909440 18 15034574 15157351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505308 S 6533 1 0 "" SP53349 dgv3394n71 18 15035811 15112502 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909442,nsv909445 M 6533 2 0 "" SP50637,SP52728 nsv909444 18 15037444 15098540 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540490,nssv1532622 M 6533 1 1 "" MS10797,MS14855 nsv909446 18 15037753 15219051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533079 S 6533 0 1 "" MS11002 nsv510450 18 15046835 15052835 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624192 S 4 0 1 "" NA18994 nsv2218 18 15060298 15092282 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4305,nssv6747 M 9 2 0 "" NA12156,NA12878 dgv1017e1 18 15151379 15367893 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7365,essv6980 M 271 0 0 LOC644669 NA18570,NA18612 nsv909447 18 15157351 15295568 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527547,nssv1533490 M 6533 0 2 "" MS11204,SP58536 nsv2219 18 15157665 15176048 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7368 S 9 0 1 "" NA12156 nsv509684 18 15215338 15250269 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623727 S 4 1 0 "" NA18994 nsv527649 18 15235488 15309251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704120 S 2026 0 1 LOC644669 esv23538 18 15365298 15400866 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20370,esv13477 M 451 10 0 "" NA07037,NA15510,NA18505,NA18517,NA18523,NA18907,NA19147,NA19225,NA19240,NA19257 nsv821061 18 15365298 15400866 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419982 S 1 1 0 "" NA10851 esv999793 18 15368985 15380368 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564640 S 3 0 1 "" HuRef nsv512519 18 15370729 15375146 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625122 S 1 0 1 "" 1 esv1575628 18 15385380 15385893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596853 S 2 0 1 "" HuRef esv7905 18 15395781 15399217 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30346 S 1 0 1 "" SJK esv7954 18 15396853 15400403 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30395 S 1 0 1 "" SJK dgv57e19 18 16765084 16774237 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7284,esv9389,esv6181,esv7283,esv9143,esv6022,esv8186,esv8792,esv8508,esv8878,esv7100 M 1 0 0 "" SJK dgv58e19 18 16765201 16770130 CNV Loss Ahn et al 2009 19470904 Sequencing esv9029,esv8367,esv8591,esv7493 M 1 0 1 "" SJK nsv436851 18 16765925 16766073 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465640 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv59e19 18 16766032 16771161 CNV Loss Ahn et al 2009 19470904 Sequencing esv9027,esv8017,esv7483,esv8366 M 1 0 1 "" SJK esv9395 18 16766803 16768672 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31836 S 1 0 1 "" SJK dgv60e19 18 16767064 16773919 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9674,esv9503,esv7239,esv6010,esv9514,esv9094,esv9068,esv7344,esv8883,esv9725,esv7286 M 1 0 0 "" SJK dgv61e19 18 16767272 16771689 CNV Loss Ahn et al 2009 19470904 Sequencing esv5856,esv8192,esv8964,esv9104,esv9719,esv9435 M 1 0 1 "" SJK esv6362 18 16767654 16770408 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28803 S 1 0 1 "" SJK dgv62e19 18 16768711 16773065 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5761,esv7465 M 1 0 0 "" SJK nsv833594 18 16768852 16810218 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453912,nssv1453913 M 95 1 1 ROCK1 esv6694 18 16769013 16770567 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29135 S 1 0 1 "" SJK esv9686 18 16769082 16769749 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32127 S 1 0 1 "" SJK esv8634 18 16769083 16770143 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31075 S 1 0 1 "" SJK esv1695823 18 16769362 16770046 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650104 S 2 0 1 "" HuRef dgv63e19 18 16769437 16771401 CNV Loss Ahn et al 2009 19470904 Sequencing esv7720,esv7541 M 1 0 1 "" SJK dgv64e19 18 16769443 16774012 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7035,esv5702,esv5606,esv9385 M 1 0 0 "" SJK esv9216 18 16769844 16771920 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31657 S 1 0 1 "" SJK esv2561956 18 16770061 16770231 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276282 S 1 0 1 "" NA18507 dgv65e19 18 16770183 16773270 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7813,esv8350,esv6417 M 1 0 0 "" SJK esv6926 18 16770236 16771109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29367 S 1 0 1 "" SJK dgv66e19 18 16770603 16771162 CNV Loss Ahn et al 2009 19470904 Sequencing esv8419,esv7491 M 1 0 1 "" SJK dgv67e19 18 16770913 16772108 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv7042,esv7805 M 1 0 0 "" SJK dgv68e19 18 16771103 16772971 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9429,esv9601 M 1 0 0 "" SJK dgv69e19 18 16771214 16773518 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv8270,esv5665,esv6117 M 1 0 0 "" SJK dgv4e3 18 16771398 16774309 CNV Complex Wang et al 2008 18987735 Sequencing esv3268,esv5128,esv4626 M 1 0 0 "" YH dgv70e19 18 16771725 16772959 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv8657,esv6871 M 1 0 0 "" SJK esv8119 18 16772029 16772667 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30560 S 1 0 0 "" SJK esv2629059 18 16772057 16772195 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314931 S 1 0 0 "" NA18507 esv2774 18 16772155 16772706 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25215 S 1 0 0 Single Asian sample YH "" YH esv4351 18 16772184 16772947 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26792 S 1 0 0 Single Asian sample YH "" YH esv6480 18 16772200 16772926 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28921 S 1 0 1 "" SJK esv5054 18 16772853 16773070 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27495 S 1 0 0 Single Asian sample YH "" YH esv5245 18 16772968 16774184 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27686 S 1 0 0 Single Asian sample YH "" YH nsv436848 18 16773011 16773167 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465641 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2641546 18 16773104 16773275 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218964 S 1 0 1 "" NA18507 esv4950 18 16773869 16774012 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27391 S 1 0 0 Single Asian sample YH "" YH esv4437 18 16774095 16774294 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26878 S 1 0 0 Single Asian sample YH "" YH esv270844 18 16855982 16856298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510412,essv2512036,essv2501862,essv2498264,essv2502033 M 157 5 0 Samples from several populations that are part of the HapMap project. ROCK1 NA19172,NA19238,NA19239,NA19240,NA19257 esv273128 18 16856014 16856352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584333,essv2584559,essv2583675 M 7 3 0 Samples from several populations that are part of the HapMap project. ROCK1 NA19238,NA19239,NA19240 esv28294 18 16990709 16994468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9801 S 451 0 1 "" NA19190 nsv509685 18 17027778 17068328 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623728 S 4 1 0 "" NA18994 nsv833595 18 17093610 17277836 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453914 S 95 0 1 GREB1L nsv909448 18 17204648 17584843 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548765 S 6533 1 0 ABHD3,ESCO1,GREB1L,MIB1,MIR320C1,SNRPD1 MS17878 nsv909449 18 17269829 17502690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527537 S 6533 1 0 ABHD3,ESCO1,GREB1L,SNRPD1 SP58506 nsv509686 18 17291660 17353866 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623729 S 4 1 0 GREB1L NA18994 nsv2220 18 17308557 17353374 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7370 S 9 0 1 GREB1L NA12156 esv7076 18 17315703 17315810 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29517 S 1 1 0 GREB1L SJK nsv132210 18 17355344 17355963 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150788 M 24 GREB1L esv2561824 18 17408319 17409749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167048 S 1 0 1 ESCO1 NA18507 esv29974 18 17427868 17502690 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84213 S 2 0 1 ABHD3,ESCO1,SNRPD1 HuRef nsv130594 18 17437257 17441294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149172 M 24 "" nsv909450 18 17624106 17958034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564985 S 6533 1 0 MIB1,MIR1-2,MIR133A1 IS30330 nsv2222 18 17650509 17685513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1397 S 9 1 0 MIB1,MIR1-2,MIR133A1 NA19240 dgv3395n71 18 17660599 17681850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909451,nsv909452 M 6533 0 2 MIB1,MIR1-2 SP55694,SP55986 nsv909453 18 17661399 17704301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517361 S 6533 0 1 MIB1,MIR1-2 SP57266 nsv131147 18 17791293 17795405 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149725 M 24 "" nsv132173 18 17816312 17817095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150751 M 24 "" nsv527879 18 17878222 17880193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704381 S 2026 0 1 "" nsv833596 18 17908992 18073471 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453916,nssv1453915 M 95 0 2 GATA6 nsv2223 18 17917076 17950569 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4306 S 9 1 0 "" NA12878 esv33265 18 17928102 17928958 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98809,essv97034,essv95636,essv97397,essv99397,essv96363 M 51 5 1 "" 21606,21817,21841,21879,22335,22371 esv267700 18 17959126 17959211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517451,essv2514279,essv2517623,essv2516204,essv2515203,essv2518939,essv2518277 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12874,NA12878,NA12891,NA19238,NA19239,NA19240 esv272896 18 17959131 17959297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581817,essv2582601,essv2583914,essv2584701,essv2583618 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv996644 18 18065034 18067875 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564552 S 3 1 0 "" HuRef esv1612270 18 18065939 18065939 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124002 S 2 1 0 "" HuRef esv1525004 18 18065941 18065941 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082576 S 2 1 0 "" HuRef nsv130851 18 18066639 18066639 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149429 M 24 "" nsv909454 18 18099760 18194143 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548766 S 6533 1 0 "" MS17878 esv1008524 18 18280325 18281134 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586510 S 3 1 0 "" HuRef esv2462339 18 18286041 18286557 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245104 S 1 1 0 "" NA18507 nsv515584 18 18299754 18320153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673535,nssv678618,nssv664031,nssv664003,nssv669241,nssv679404,nssv678645,nssv665357,nssv659985,nssv659533,nssv674022,nssv668202,nssv682907,nssv680484,nssv657367,nssv679995,nssv685691,nssv656281,nssv665169,nssv690400 M 2026 0 20 "" esv26056 18 18308185 18321383 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11416 S 451 0 1 "" NA18502 nsv442432 18 18308209 18319975 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421805 18 18308209 18320153 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107435,essv5086131,essv5123874,essv5036531,essv5089917,essv5044253,essv5059064,essv5129463,essv5092330,essv5040405,essv5039706,essv5036257,essv5124905,essv5004328,essv5093031,essv5088453,essv5027571,essv5122379,essv5051135,essv5062294,essv5077770 M 1184 0 21 "" NA18867,NA18874,NA18923,NA19137,NA19143,NA19146,NA19148,NA19176,NA19214,NA19215,NA19452,NA19713,NA19983,NA20127,NA20281,NA20290,NA20357,NA20358,NA21339,NA21381,NA21383 nsv817786 18 18308209 18320153 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418223,nssv1416978 M 112 0 2 "" NA19137,NA19143 nsv510451 18 18329957 18335957 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621451 S 4 0 1 "" NA15510 nsv428353 18 18343779 18719572 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453581 S 62 1 0 "" NA19108 nsv524015 18 18350593 18357065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699875 S 2026 0 1 "" nsv2224 18 18355324 18393418 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2979,nssv9973,nssv4307,nssv7371,nssv10151,nssv1398 M 9 6 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19240 esv1008481 18 18383014 18389524 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564538 S 3 1 0 "" HuRef esv1672220 18 18384689 18384689 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284512 S 2 1 0 "" HuRef nsv509687 18 18386272 18386272 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623730 S 4 1 0 "" NA18994 nsv516372 18 18412571 18414312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671520,nssv663646,nssv678669,nssv658168,nssv667842 M 2026 0 5 "" esv2280790 18 18425868 18426282 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798851 S 1 0 1 "" NA18507 nsv131389 18 18426057 18426109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149967 M 24 "" nsv2225 18 18426316 18460345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2980 S 9 1 0 "" NA18555 nsv2226 18 18459666 18505443 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6748 S 9 0 1 "" NA12156 esv27367 18 18493563 18556754 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12880 S 451 1 0 "" NA19108 nsv526753 18 18551873 18553111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703100 S 2026 0 1 "" nsv909455 18 18565553 18748550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582285,nssv1564599 M 6533 0 2 "" IS30245,IS35908 nsv131531 18 18574261 18574261 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150109 M 24 "" esv1129773 18 18574327 18574327 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320770 S 2 1 0 "" HuRef nsv2227 18 18734801 18761840 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6749 S 9 1 0 "" NA12156 esv259466 18 18817525 18817849 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394122,essv2393780,essv2393772 M 6 0 0 Samples from several populations that are part of the HapMap project. RBBP8 NA12878,NA12892,NA19238 esv259813 18 18817526 18817868 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400231,essv2400053,essv2399030,essv2400248,essv2398882,essv2395773,essv2396257,essv2399370,essv2396644,essv2398669,essv2400739,essv2395405,essv2397956,essv2399712,essv2397339,essv2396957,essv2394722,essv2395691,essv2397440,essv2399585,essv2395084,essv2399859,essv2400609,essv2396887,essv2398862,essv2398933,essv2400182,essv2399141,essv2394426,essv2396170,essv2395868,essv2395454,essv2395132,essv2394532,essv2395820,essv2399640,essv2395937 M 144 0 0 Samples from several populations that are part of the HapMap project. RBBP8 NA07037,NA07051,NA10851,NA11829,NA11995,NA12004,NA12006,NA12287,NA12414,NA12489,NA12717,NA12749,NA12751,NA12828,NA12878,NA12892,NA18498,NA18532,NA18566,NA18570,NA18571,NA18573,NA18576,NA18579,NA18582,NA18603,NA18608,NA18609,NA18943,NA18944,NA18945,NA18948,NA18953,NA18959,NA18961,NA18964,NA19238 nsv131399 18 18817628 18817628 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149977 M 24 RBBP8 esv1450571 18 18856632 18856632 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587775 S 2 1 0 RBBP8 HuRef nsv130930 18 18873987 18874038 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149508 M 24 "" nsv131438 18 18905068 18910922 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150016 M 24 "" esv27368 18 18969575 18970286 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17796 S 451 0 2 CABLES1 NA12489,NA19190 esv991609 18 19012229 19018382 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565711 S 3 0 1 CABLES1 HuRef nsv833597 18 19017248 19059585 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453917,nssv1453918 M 95 0 2 CABLES1 dgv1018e1 18 19024430 19181612 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17263,esv122 M 271 0 0 C18orf45,CABLES1 NA18503 esv32657 18 19037930 19187865 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99393 S 51 0 1 C18orf45,CABLES1 22335 esv1008398 18 19052560 19052631 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566416 S 3 0 1 CABLES1 HuRef esv1669821 18 19052573 19052645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934262 S 2 0 1 CABLES1 HuRef nsv458033 18 19054713 19124158 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535094 S 1557 0 1 CABLES1 1780854288_A esv34149 18 19112137 19475889 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ANKRD29,C18orf45,C18orf8,NPC1,RIOK3 nsv131131 18 19137579 19138323 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149709 M 24 C18orf45 dgv3396n71 18 19149047 19200794 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909457,nsv909456 M 6533 0 3 C18orf45 MS18375,MS20286,MS21249 nsv909458 18 19257059 19425143 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548767 S 6533 1 0 C18orf45,C18orf8,NPC1,RIOK3 MS17878 nsv509688 18 19317821 19444615 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623731 S 4 1 0 ANKRD29,C18orf8,NPC1 NA18994 nsv525746 18 19321074 19334672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701913 S 2026 0 1 "" nsv131772 18 19327710 19327801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150350 M 24 "" esv1417509 18 19327834 19327834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807670 S 2 1 0 "" HuRef esv1106737 18 19411338 19411338 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710443 S 2 1 0 NPC1 HuRef nsv131804 18 19449937 19449937 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150382 M 24 ANKRD29 nsv131838 18 19450128 19450128 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150416 M 24 ANKRD29 esv1282056 18 19515384 19515384 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282197 S 2 1 0 "" HuRef esv2556502 18 19604303 19605680 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244649 S 1 0 1 LAMA3 NA18507 nsv2228 18 19741828 19776743 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4308 S 9 1 0 LAMA3 NA12878 esv2839 18 19744908 19745181 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25280 S 1 0 1 Single Asian sample YH LAMA3 YH nsv909459 18 19846567 20003613 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599653 S 6533 1 0 CABYR,OSBPL1A,TTC39C IS41747 esv259739 18 19876733 19887292 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394910 S 144 0 0 Samples from several populations that are part of the HapMap project. TTC39C NA18942 nsv828189 18 19876804 19887180 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435506 S 31 1 0 TTC39C NA18942 esv2641358 18 19932999 19933077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280603 S 1 0 1 TTC39C NA18507 nsv909460 18 19962997 20020109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548768 S 6533 1 0 CABYR,OSBPL1A,TTC39C MS17878 nsv2229 18 20027954 20047108 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4309 S 9 1 0 OSBPL1A NA12878 nsv828190 18 20123851 20128194 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434061 S 31 1 0 OSBPL1A NA18526 esv2476704 18 20156905 20159422 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321384 S 1 0 1 OSBPL1A NA18507 nsv512520 18 20156971 20159265 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625123 S 1 0 1 OSBPL1A 1 esv2539637 18 20167070 20168548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311616 S 1 0 1 OSBPL1A NA18507 nsv522361 18 20220413 20227868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695142 S 2026 0 1 OSBPL1A nsv512521 18 20244650 20246726 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625124 S 1 0 1 "" 1 esv989461 18 20244701 20246011 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586979 S 3 0 1 "" HuRef dgv546n67 18 20244701 20246050 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828191,nsv828192 M 31 0 2 "" AK2,NA18942 nsv909461 18 20257300 20318010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539118 S 6533 1 0 HRH4,IMPACT MS14164 nsv521369 18 20302545 20313092 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697978 S 2026 1 0 HRH4 nsv2230 18 20328125 20363360 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1399,nssv7372 M 9 2 0 "" NA12156,NA19240 nsv909462 18 20345021 20378416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538954 S 6533 1 0 "" MS13871 esv268009 18 20355871 20356198 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503197,essv2495420,essv2504409,essv2505137,essv2505568,essv2500299,essv2494333,essv2494788,essv2508728,essv2500695,essv2510065,essv2498511,essv2495560,essv2502380,essv2501384,essv2510868,essv2509447,essv2499611,essv2512015,essv2501822,essv2498118,essv2513133 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11881,NA11919,NA11993,NA11995,NA12154,NA12891,NA18502,NA18519,NA18532,NA18571,NA18593,NA18858,NA18916,NA18948,NA19093,NA19116,NA19129,NA19225,NA19238,NA19239,NA19240 esv272205 18 20355884 20356209 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582375,essv2584009,essv2584759,essv2583702 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 nsv833598 18 20425356 20591550 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453919,nssv1453920 M 95 2 0 LOC729950 nsv527893 18 20461587 20556033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704396 S 2026 0 1 LOC729950 dgv3397n71 18 20506273 20566685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909465,nsv909463,nsv909466,nsv909464 M 6533 0 5 "" SP50979,SP51302,SP55553,SP80980,SP81566 nsv909467 18 20601617 20719535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548769 S 6533 1 0 "" MS17878 esv269934 18 20644060 20644393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510728,essv2509829,essv2496510,essv2506415 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18510,NA19108 esv997133 18 20714171 20716452 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563550 S 3 0 1 "" HuRef nsv458035 18 20714783 20730927 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535095 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00883 esv1096104 18 20772737 20772789 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680468 S 2 0 1 "" HuRef nsv130991 18 20772758 20772809 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149569 M 24 "" esv1673899 18 20773231 20773295 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711716 S 2 0 1 "" HuRef nsv132044 18 20773559 20773622 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150622 M 24 "" nsv909468 18 20784777 20890413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548770 S 6533 1 0 "" MS17878 esv2528672 18 20867086 20868048 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201393 S 1 1 0 "" NA18507 esv1005517 18 20932942 20936100 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563561 S 3 1 0 ZNF521 HuRef nsv527984 18 20937539 20945081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704503 S 2026 0 1 ZNF521 nsv131198 18 21033944 21039103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149776 M 24 ZNF521 nsv510733 18 21078856 21127801 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622732 S 4 0 1 ZNF521 NA18994 nsv828193 18 21097901 21098765 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426213 S 31 1 0 ZNF521 AK4 esv2908 18 21146395 21146999 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25349 S 1 0 1 Single Asian sample YH ZNF521 YH dgv56n6 18 21146479 21146816 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131003,nsv131871 M 24 ZNF521 esv1007123 18 21146482 21146805 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583151 S 3 0 1 ZNF521 HuRef esv1137776 18 21146492 21146816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955892 S 2 0 1 ZNF521 HuRef esv8931 18 21146493 21146820 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31372 S 1 0 1 ZNF521 SJK nsv828194 18 21175241 21193830 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428716 S 31 1 0 ZNF521 AK10 nsv521168 18 21181755 21186844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697824 S 2026 0 1 ZNF521 nsv507864 18 21265579 21271579 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623241,nssv619197 M 4 2 0 "" NA10860,NA18994 nsv909469 18 21275054 21458701 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548771 S 6533 1 0 "" MS17878 nsv428354 18 21286743 21462321 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453583 S 62 0 1 "" NA19096 nsv524667 18 21455049 21458701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700636 S 2026 0 1 "" esv269310 18 21543493 21543639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504085,essv2502961,essv2509816,essv2509487 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18507,NA18508,NA19129 nsv833599 18 21543717 21705588 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453921 S 95 1 0 "" nsv828195 18 21601089 21604927 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424637 S 31 0 1 "" NA18582 nsv2231 18 21669312 21700649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10152 S 9 1 0 "" NA18956 esv269114 18 21692644 21692978 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503354,essv2499947,essv2507884,essv2511350,essv2512879,essv2496000,essv2500706 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18558,NA18564,NA18570,NA18609,NA18961,NA18973 nsv521170 18 21698467 21714952 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697825 S 2026 1 0 "" nsv909470 18 21705732 21747359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503278,nssv1525693 M 6533 0 2 "" SP52020,SP56773 nsv458036 18 21707096 21734125 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535096 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00259 esv1562984 18 21721617 21721617 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084849 S 2 1 0 "" HuRef esv1957384 18 21727400 21727840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932102 S 1 0 1 "" NA18507 esv1004966 18 21727579 21727647 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581879 S 3 0 1 "" HuRef nsv2233 18 21951693 21986289 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4311 S 9 1 0 PSMA8 NA12878 nsv2234 18 21995198 22033246 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2190,nssv7373 M 9 0 2 PSMA8 NA12156,NA18555 esv996517 18 22000965 22005751 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564350 S 3 0 1 PSMA8 HuRef esv2575414 18 22001559 22006376 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332043 S 1 0 1 PSMA8 NA18507 esv2119871 18 22001637 22005486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962327 S 1 0 1 PSMA8 NA18507 esv3977 18 22001741 22005377 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26418 S 1 0 1 Single Asian sample YH PSMA8 YH nsv498877 18 22001803 22005329 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585738 S 9 0 1 PSMA8 esv1171407 18 22001811 22005328 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056056 S 2 0 1 PSMA8 HuRef esv28116 18 22001856 22005785 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17153 S 451 0 9 PSMA8 NA18502,NA18517,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147,NA19190 esv1011173 18 22001979 22005156 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586476 S 3 0 1 PSMA8 HuRef esv995923 18 22016288 22020178 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563880 S 3 0 1 PSMA8 HuRef esv1206471 18 22016969 22020126 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042292 S 2 0 1 PSMA8 HuRef dgv74e180 18 22017569 22020049 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004839,esv994224 M 3 0 1 PSMA8 HuRef dgv547n67 18 22017956 22020390 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828198,nsv828196 M 31 0 6 PSMA8 AK16,AK4,NA18526,NA18542,NA18564,NA18949 esv27050 18 22018116 22020426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12077 S 451 0 4 PSMA8 NA12006,NA12156,NA18907,NA19099 nsv909471 18 22020969 22172943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554301 S 6533 0 1 PSMA8,TAF4B MS20710 esv274170 18 22048177 22048351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581601,essv2581282 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv512522 18 22081094 22083158 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625125 S 1 0 1 TAF4B 1 esv2459954 18 22081374 22083675 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282213 S 1 0 1 TAF4B NA18507 esv1519371 18 22180736 22180736 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618226 S 2 1 0 TAF4B HuRef esv2119422 18 22299808 22300258 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527422 S 1 0 1 KCTD1 NA18507 esv3380 18 22299930 22300142 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25821 S 1 0 1 Single Asian sample YH KCTD1 YH esv1006523 18 22299997 22300075 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580693 S 3 0 1 KCTD1 HuRef esv1276406 18 22300010 22300089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695147 S 2 0 1 KCTD1 HuRef nsv2235 18 22387727 22397875 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7374 S 9 0 1 KCTD1 NA12156 esv274457 18 22588388 22588771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579345,essv2579500 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270417 18 22588461 22588546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519062,essv2515276 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19238 esv275390 18 22619849 22620365 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585666 S 1250 0 1 "" nsv438277 18 22620486 22621971 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470690 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19171 esv22614 18 22662669 22663886 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15627 S 451 0 3 "" NA12156,NA18517,NA19257 nsv527852 18 22718280 22720491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704350 S 2026 0 1 CHST9-AS1 nsv833600 18 22727892 22935017 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453922 S 95 1 0 CHST9,CHST9-AS1 nsv909472 18 22733958 22868190 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548772 S 6533 1 0 CHST9,CHST9-AS1 MS17878 esv1411247 18 22792027 22792027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066064 S 2 1 0 CHST9 HuRef nsv512523 18 22825344 22826450 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625126 S 1 0 1 CHST9 1 esv25443 18 22825640 22826304 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13972 S 451 39 0 CHST9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820910 18 22825640 22826304 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419983 S 1 0 1 CHST9 NA10851 dgv3398n71 18 22909233 23086021 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909474,nsv909473 M 6533 2 0 CHST9 IS41883,MS17878 nsv909475 18 22941322 23030224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555512 S 6533 0 1 CHST9 MS21397 nsv909476 18 22976837 23033599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556054 S 6533 0 1 CHST9 MS21771 nsv2236 18 22977712 23010289 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5692 S 9 1 0 CHST9 NA19129 nsv909477 18 22981745 22998025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516944 S 6533 0 1 CHST9 SP56987 nsv528945 18 23004144 23004732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705637 S 2026 0 1 CHST9 nsv518698 18 23033599 23047161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696149 S 2026 0 1 "" esv2443116 18 23045157 23046707 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346674 S 1 0 1 "" NA18507 esv2344195 18 23045389 23046042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668763 S 1 0 1 "" NA18507 esv4832 18 23045509 23045980 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27273 S 1 0 1 Single Asian sample YH "" YH esv7191 18 23045568 23045871 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29632 S 1 0 1 "" SJK nsv833601 18 23162238 23334973 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453923 S 95 0 1 "" nsv833602 18 23247028 23434821 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453924 S 95 1 0 "" esv22851 18 23324856 23326160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10219 S 451 0 1 "" NA19225 esv271118 18 23350975 23351278 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2568213,essv2578789,essv2566780,essv2533026,essv2547945 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA11995,NA18510,NA18853 esv275076 18 23386546 23388544 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585858 S 1250 0 1 "" esv269041 18 23400128 23400845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515859 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv833604 18 23480725 23671421 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453925 S 95 1 0 "" nsv521603 18 23553827 23563412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698219 S 2026 0 1 "" dgv3399n71 18 23646567 23755999 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909478,nsv909479 M 6533 0 2 "" IS41909,MS20630 esv1437472 18 23690417 23690417 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961998 S 2 1 0 "" HuRef esv1452576 18 23690439 23690439 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795914 S 2 1 0 "" HuRef esv1058963 18 23690695 23690745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062647 S 2 0 1 "" HuRef nsv909480 18 23694256 23755999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585371 S 6533 0 1 "" IS37428 nsv828199 18 23699806 23700264 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434778 S 31 1 0 "" NA18570 nsv833605 18 23721094 23897445 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453926 S 95 1 0 CDH2 nsv528211 18 23727940 23728970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704772 S 2026 0 1 "" esv996728 18 23754206 23754261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583706 S 3 0 1 "" HuRef esv1403372 18 23754262 23754318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988210 S 2 0 1 "" HuRef nsv9622 18 24003903 24286814 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24157,nssv28380,nssv27095 M 31 0 3 Samples from several populations that are part of the HapMap project. CDH2 NA18853,NA19132,NA19221 esv267800 18 24024395 24024713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515672 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 esv2480689 18 24081293 24082816 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196080 S 1 0 1 "" NA18507 esv2180428 18 24081684 24082404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588102 S 1 0 1 "" NA18507 esv998759 18 24081877 24082209 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580157 S 3 0 1 "" HuRef esv9090 18 24081887 24082237 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31531 S 1 0 1 "" SJK esv1543986 18 24081890 24082223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594069 S 2 0 1 "" HuRef nsv132148 18 24081891 24082223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150726 M 24 "" esv2651179 18 24104680 24105624 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376155 S 1 1 0 "" NA18507 esv273983 18 24105037 24105483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580728 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271212 18 24105152 24105478 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576039,essv2546183,essv2568249,essv2545401,essv2548521,essv2535339,essv2520507,essv2553669,essv2539987,essv2521011,essv2578644,essv2537168,essv2538986,essv2542020,essv2528046,essv2575218,essv2538571,essv2560809,essv2545714,essv2524830,essv2563457 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11830,NA11881,NA11995,NA12003,NA12045,NA12249,NA12716,NA12763,NA18489,NA18498,NA18510,NA18517,NA18519,NA18856,NA18907,NA19102,NA19108,NA19137,NA19239 esv273136 18 24125785 24126125 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581910,essv2582312,essv2582932,essv2584248,essv2583474 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv271425 18 24125790 24126128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540848,essv2521083,essv2526266,essv2542452,essv2522799,essv2543798,essv2568222,essv2523242,essv2577590,essv2521872,essv2576871,essv2550722,essv2554140,essv2552209,essv2529267,essv2564567,essv2577942,essv2565395,essv2519931,essv2563942,essv2554816,essv2530894,essv2561760,essv2537646,essv2528442,essv2546686,essv2551709,essv2569472,essv2550148,essv2561517,essv2544765,essv2523645,essv2553031,essv2541164,essv2538284,essv2540512,essv2524521,essv2561128,essv2549501,essv2559870,essv2522181,essv2531268,essv2570321,essv2563797,essv2535628,essv2572425,essv2558965,essv2566744,essv2551124,essv2556299,essv2533991,essv2578136,essv2555413,essv2533651,essv2555580,essv2567064,essv2574034,essv2556110,essv2522471,essv2531589,essv2571911,essv2525770,essv2526809,essv2529623,essv2575344,essv2526374,essv2572718,essv2571493,essv2574165,essv2535920,essv2548726,essv2532955,essv2554584,essv2547890,essv2563500 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA10847,NA11831,NA11894,NA11918,NA11919,NA11931,NA11992,NA11995,NA12004,NA12043,NA12144,NA12154,NA12155,NA12287,NA12489,NA12749,NA12751,NA12761,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18504,NA18508,NA18511,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18562,NA18564,NA18570,NA18571,NA18573,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18858,NA18871,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18951,NA18956,NA18960,NA18961,NA18973,NA18980,NA19005,NA19093,NA19102,NA19114,NA19143,NA19238,NA19240 nsv132043 18 24125817 24125817 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150621 M 24 "" nsv833606 18 24155779 24347910 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453927 S 95 0 1 "" nsv909481 18 24160567 24257078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600246 S 6533 0 1 "" IS41862 nsv470410 18 24169138 24215515 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547075 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00661 nsv470409 18 24169138 24313305 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547074 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00461 nsv909482 18 24215515 24430916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548774 S 6533 1 0 "" MS17878 esv28809 18 24228341 24235418 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19445 S 451 0 1 "" NA18523 nsv516519 18 24230826 24232717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692541,nssv668812,nssv674023 M 2026 0 3 "" esv272324 18 24241901 24242076 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579965 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv267448 18 24241908 24242186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512563,essv2496550,essv2506226,essv2497458,essv2501926 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18523,NA19147,NA19239 nsv909483 18 24282866 24368110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578571 S 6533 0 1 "" IS34805 nsv833607 18 24344567 24490809 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453930,nssv1453929,nssv1453928 M 95 3 0 "" nsv131565 18 24355420 24355562 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150143 M 24 "" nsv909484 18 24385115 24452220 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524457 S 6533 1 0 "" SP55028 dgv1019e1 18 24413258 24450849 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1345,essv22262,essv3849 M 271 0 0 "" NA11992,NA18953 esv991451 18 24432397 24434102 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564784 S 3 1 0 "" HuRef nsv828200 18 24455457 24456220 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426215 S 31 1 0 "" AK4 nsv2237 18 24489581 24557666 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2192,nssv10153,nssv1400 M 9 0 3 "" NA18555,NA18956,NA19240 nsv131093 18 24508543 24514665 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149671 M 24 "" nsv510734 18 24525563 24537748 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620106 S 4 0 1 "" NA15510 nsv435689 18 24526336 24534035 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465642 S 2 0 1 "" NA15510 nsv512524 18 24526757 24532725 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625127 S 1 0 1 "" 1 esv1245602 18 24528583 24528676 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130260 S 2 0 1 "" HuRef nsv828201 18 24540126 24541879 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422247 S 31 0 1 "" NA18997 esv2569536 18 24617222 24618642 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347312 S 1 0 1 "" NA18507 esv2297770 18 24617560 24618243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798799 S 1 0 1 "" NA18507 esv3434 18 24617671 24618129 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25875 S 1 0 1 Single Asian sample YH "" YH esv7419 18 24617745 24618061 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29860 S 1 0 1 "" SJK esv997968 18 24617751 24618071 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582377 S 3 0 1 "" HuRef esv1154048 18 24617756 24618077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753123 S 2 0 1 "" HuRef nsv131340 18 24617757 24618077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149918 M 24 "" esv1678151 18 24633421 24633421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208122 S 2 1 0 "" HuRef nsv833608 18 24640345 24737104 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453931 S 95 1 0 "" nsv819320 18 24688156 24695277 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419806 S 2 1 0 "" AK1 nsv909485 18 24711165 24804828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546240,nssv1545548 M 6533 0 2 "" MS16832,MS17114 nsv909486 18 24748505 24840424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502447 S 6533 1 0 "" SP51175 nsv517928 18 24778672 24781137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695340 S 2026 0 1 "" nsv909487 18 24823899 24949012 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548775 S 6533 1 0 "" MS17878 nsv458039 18 24831978 24873396 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535097 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01201 nsv526404 18 25020105 25022184 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702704 S 2026 1 0 "" nsv909488 18 25023877 25102265 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548776 S 6533 1 0 "" MS17878 nsv909489 18 25073974 25138365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595012 S 6533 0 1 "" IS40067 dgv3400n71 18 25073974 25381767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909490,nsv909491 M 6533 0 2 "" IS39011,MS17114 nsv833609 18 25103630 25299486 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453933,nssv1453932 M 95 0 2 "" nsv525561 18 25116408 25135862 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701700 S 2026 1 0 "" nsv909492 18 25146707 25276628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548777 S 6533 1 0 "" MS17878 nsv2238 18 25212134 25246442 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4312 S 9 1 0 "" NA12878 nsv909493 18 25220939 25417449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562521 S 6533 0 1 "" MS25617 nsv524830 18 25230292 25234387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700831 S 2026 0 1 "" nsv2239 18 25278345 25312558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4313 S 9 1 0 "" NA12878 esv273056 18 25299123 25299322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584550,essv2583787 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv470411 18 25314428 25381766 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547076 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199 esv2428670 18 25409965 25410984 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221323 S 1 1 0 "" NA18507 esv267533 18 25410331 25410678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517972,essv2516101,essv2517630,essv2516264,essv2513944,essv2518916,essv2518402 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12873,NA12878,NA12891,NA19143,NA19239,NA19240 esv274606 18 25410335 25410672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581975,essv2582646,essv2584859,essv2583531 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv1260736 18 25430645 25430645 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818040 S 2 1 0 "" HuRef esv2641817 18 25435551 25436599 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276398 S 1 1 0 "" NA18507 esv268127 18 25436062 25436252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510217,essv2508012,essv2510371,essv2508564,essv2502497,essv2507761,essv2493429,essv2508834,essv2500291,essv2496718,essv2494391,essv2493257,essv2504308,essv2509818,essv2496388,essv2493600,essv2494996,essv2506073,essv2500479,essv2503344,essv2497305,essv2494603,essv2497138,essv2497757,essv2499924,essv2504595,essv2511353,essv2508141,essv2508641,essv2496111,essv2501567,essv2507457,essv2498480,essv2505699,essv2509190,essv2507351,essv2509382,essv2495967,essv2502617,essv2504683,essv2506892,essv2506565,essv2510824,essv2498869,essv2497492,essv2510436,essv2501872,essv2498241,essv2503913 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA12003,NA12414,NA12717,NA12750,NA12751,NA12763,NA12878,NA12891,NA18498,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18520,NA18523,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18562,NA18563,NA18570,NA18579,NA18592,NA18603,NA18608,NA18638,NA18858,NA18861,NA18909,NA18912,NA18953,NA18961,NA18965,NA19099,NA19102,NA19108,NA19116,NA19138,NA19147,NA19172,NA19239,NA19240 esv272744 18 25436072 25436240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582174,essv2582700,essv2584539,essv2583442 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv520618 18 25462507 25588781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697521 S 2026 0 1 "" nsv517228 18 25471320 25476107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697206,nssv684129,nssv676260,nssv657381,nssv679897,nssv654072 M 2026 0 6 "" nsv817787 18 25471320 25476107 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417074,nssv1417075 M 112 0 2 "" NA07000,NA07029 esv2440335 18 25472825 25473490 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194941 S 1 1 0 "" NA18507 esv7407 18 25479575 25479654 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29848 S 1 1 0 "" SJK esv2599645 18 25492028 25496457 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165455 S 1 0 1 "" NA18507 esv2535790 18 25492217 25496137 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238888 S 1 0 1 "" NA18507 esv2094548 18 25492624 25495614 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585123 S 1 0 1 "" NA18507 nsv525997 18 25552694 25603527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702222 S 2026 0 1 "" nsv909494 18 25593562 25685668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567216 S 6533 0 1 "" IS31046 nsv470412 18 25603527 25677373 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547077 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01051 nsv518017 18 25607166 25622783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695429 S 2026 0 1 "" nsv909495 18 25609472 25862854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520634 S 6533 1 0 "" SP51182 esv998236 18 25617722 25618143 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565392 S 3 0 1 "" HuRef nsv131967 18 25617743 25617743 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150545 M 24 "" nsv131292 18 25617761 25617761 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149870 M 24 "" esv1493488 18 25617962 25618084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727706 S 2 0 1 "" HuRef nsv131968 18 25618024 25618183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150546 M 24 "" esv1774940 18 25618228 25618568 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990253 S 2 0 1 "" HuRef nsv130692 18 25618229 25618534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149270 M 24 "" dgv378n27 18 25652631 25720175 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458043,nsv458042 M 1557 2 0 "" HGDP01250,HGDP01397 nsv470413 18 25652856 25714956 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547078 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01397 nsv2240 18 25701410 25746737 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7375 S 9 0 1 "" NA12156 esv25435 18 25743035 25744853 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15626 S 451 0 1 "" NA07037 nsv833610 18 25770362 25922349 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453934 S 95 0 1 "" esv272166 18 25785814 25786066 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579306 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269717 18 25785834 25786173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517063,essv2516552,essv2516093,essv2517622,essv2516175,essv2516856 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12814,NA12873,NA12878,NA12891,NA12892 nsv833611 18 25849306 25897384 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453936,nssv1453939,nssv1453935,nssv1453938,nssv1453937 M 95 5 0 "" nsv828202 18 25852795 25853281 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426216 S 31 1 0 "" AK4 nsv131259 18 25883679 25884004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149837 M 24 "" esv8164 18 25883687 25884001 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30605 S 1 0 1 "" SJK esv1218481 18 25883688 25884014 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646046 S 2 0 1 "" HuRef nsv2241 18 25964850 25998563 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7376 S 9 1 0 "" NA12156 nsv909496 18 25969767 26080651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584052 S 6533 0 1 "" IS36787 nsv909497 18 26027903 26057218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548778 S 6533 1 0 "" MS17878 nsv909498 18 26027903 26082308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546242 S 6533 0 1 "" MS17114 esv1571865 18 26045656 26045656 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206820 S 2 1 0 "" HuRef dgv3401n71 18 26051291 26087568 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909500,nsv909499 M 6533 0 3 "" IS31145,IS41113,IS41224 nsv909501 18 26051291 26230232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585043 S 6533 0 1 MIR302F IS37226 esv271842 18 26054823 26055169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516805,essv2519218,essv2517411,essv2514182,essv2518831,essv2514761,essv2515398,essv2518439,essv2514912,essv2516511,essv2515697,essv2516091,essv2514411,essv2517692,essv2515794,essv2513830,essv2518316 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA12043,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA18969,NA19143,NA19240 esv273100 18 26054823 26055169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581391,essv2581174 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1228642 18 26054859 26054859 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631701 S 2 1 0 "" HuRef nsv131443 18 26054860 26054860 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150021 M 24 "" nsv516109 18 26057218 26116543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683837,nssv682842,nssv675406,nssv666253,nssv663476,nssv693099,nssv684148,nssv682110,nssv674277 M 2026 0 9 "" esv1988163 18 26064701 26065075 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507393 S 1 0 1 "" NA18507 dgv1020e1 18 26068546 26073661 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17877,essv21621,essv20747,esv906,essv23116 M 271 0 0 "" NA07348,NA07357,NA10857,NA12043 esv267502 18 26070290 26070375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514258 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv909502 18 26071406 26135031 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569706 S 6533 1 0 MIR302F IS31656 dgv3402n71 18 26073661 26213100 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909503,nsv909504,nsv909505 M 6533 0 4 MIR302F IS31179,IS35788,MS11467,MS18620 nsv817788 18 26080651 26082308 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415602 S 112 1 0 "" NA12154 nsv828203 18 26099710 26100631 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426217 S 31 1 0 "" AK4 esv267754 18 26110878 26110963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516376 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv909506 18 26112579 26213100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580145,nssv1582380 M 6533 0 2 MIR302F IS35229,IS35911 esv1937732 18 26126379 26127078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780709 S 1 0 1 "" NA18507 esv7906 18 26126578 26126901 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30347 S 1 0 1 "" SJK esv34009 18 26211964 26369012 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv909507 18 26237997 26273206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585145 S 6533 0 1 "" IS37294 dgv3403n71 18 26240200 26308259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909510,nsv909509,nsv909508 M 6533 0 7 "" SP50604,SP51065,SP51460,SP53685,SP54665,SP55970,SP56029 nsv2242 18 26268037 26313385 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6750 S 9 0 1 "" NA12156 nsv909511 18 26273206 26303706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513980 S 6533 0 1 "" SP55878 esv259845 18 26285791 26286074 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400301,essv2398903,essv2399598,essv2399173,essv2396535,essv2400089,essv2394616,essv2395347,essv2394444,essv2397156,essv2394550,essv2395151,essv2396353 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11995,NA12761,NA12776,NA18517,NA18861,NA18870,NA18916,NA18943,NA18951,NA18965,NA19108,NA19138 nsv909512 18 26320599 26355659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548779 S 6533 1 0 "" MS17878 nsv909513 18 26323557 26368956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555318 S 6533 0 1 "" MS21258 esv2542717 18 26323577 26326776 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347856 S 1 0 1 "" NA18507 esv1762749 18 26325160 26325160 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865115 S 2 1 0 "" HuRef nsv833612 18 26342778 26505574 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453940,nssv1453941,nssv1453942 M 95 1 2 "" esv274349 18 26389684 26389906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584592,essv2583340 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv5833 18 26407821 26407918 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28274 S 1 1 0 "" SJK nsv828204 18 26434200 26435002 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434779 S 31 1 0 "" NA18570 esv1490535 18 26487987 26487987 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314904 S 2 1 0 "" HuRef esv25798 18 26533456 26537861 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10037 S 451 0 2 "" NA19190,NA19225 esv2421334 18 26535250 26537409 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085807,essv5029569,essv5035668,essv5107165,essv5060174,essv5103840,essv5028444,essv5042810,essv5112570,essv5131614,essv5055618,essv5024079,essv5085178,essv5094714,essv5088820,essv5069211,essv5086416,essv5129780,essv5060219,essv5155896,essv5011087,essv5058640,essv5003000,essv5135516 M 1184 0 24 "" NA18511,NA18862,NA19031,NA19036,NA19096,NA19103,NA19190,NA19198,NA19213,NA19215,NA19225,NA19236,NA19247,NA19256,NA19258,NA19360,NA19428,NA19439,NA21318,NA21421,NA21478,NA21480,NA21614,NA21631 nsv515523 18 26535250 26537409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666152,nssv677424,nssv676742,nssv659575,nssv653451,nssv659631,nssv674829,nssv675088,nssv688070,nssv686709,nssv672074,nssv673587,nssv674252,nssv691106,nssv666208,nssv700506,nssv666475,nssv667569 M 2026 0 18 "" nsv909514 18 26575801 26674332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519845 S 6533 1 0 "" SP50575 nsv833613 18 26700452 26877597 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453943,nssv1453944 M 95 1 1 DSC3 nsv507865 18 26732661 26738661 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619198 S 4 1 0 "" NA10860 nsv909515 18 26810765 26838554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568835 S 6533 0 1 DSC3 IS31359 nsv470414 18 26820663 26830531 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547080 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DSC3 HGDP00903 nsv526587 18 26883837 26893546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702905 S 2026 0 1 "" nsv2244 18 26889552 26920378 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7377 S 9 0 1 DSC2 NA12156 nsv130642 18 26950271 26955120 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149220 M 24 "" nsv519734 18 26961413 26975532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697019 S 2026 0 1 DSC1 nsv820166 18 26975590 26977658 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419377 S 2 0 1 DSC1 AK1 esv2646471 18 26983661 26984839 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231706 S 1 1 0 DSC1 NA18507 esv274283 18 26986869 26987684 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578990 S 7 1 0 Samples from several populations that are part of the HapMap project. DSC1 NA19239 esv269494 18 26986870 26987728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503243,essv2496632,essv2511400,essv2499341,essv2512402,essv2505515,essv2508342,essv2502583,essv2503832,essv2493460,essv2493402,essv2502785,essv2512583,essv2510762,essv2504246,essv2496360,essv2496247,essv2493667,essv2494710,essv2508785,essv2500431,essv2503327,essv2497333,essv2512972,essv2494598,essv2497252,essv2497764,essv2499982,essv2499870,essv2504593,essv2507919,essv2506405,essv2494481,essv2512648,essv2508206,essv2508424,essv2508698,essv2496062,essv2501583,essv2512870,essv2507499,essv2505219,essv2498520,essv2495535,essv2511598,essv2511104,essv2497974,essv2502491,essv2512396,essv2505424,essv2497387,essv2495135,essv2500725,essv2512781,essv2506641,essv2499121,essv2495781,essv2503902,essv2499498 M 157 59 0 Samples from several populations that are part of the HapMap project. DSC1 NA07000,NA07037,NA07357,NA11881,NA11894,NA11920,NA11994,NA12043,NA12154,NA12749,NA12750,NA12761,NA12763,NA12776,NA12892,NA18489,NA18501,NA18505,NA18510,NA18511,NA18517,NA18519,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18572,NA18577,NA18579,NA18582,NA18592,NA18603,NA18608,NA18609,NA18638,NA18853,NA18858,NA18916,NA18940,NA18944,NA18945,NA18948,NA18949,NA18952,NA18959,NA18964,NA18973,NA18980,NA19108,NA19114 dgv57n6 18 26993026 27002056 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131242,nsv132191 M 24 DSC1 esv21667 18 27025338 27029871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20999 S 451 0 1 "" NA19108 nsv2245 18 27041074 27075373 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1401 S 9 1 0 "" NA19240 nsv507866 18 27090564 27096564 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617934,nssv619199 M 4 2 0 "" CHM,NA10860 esv1722429 18 27130372 27130372 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047450 S 2 1 0 "" HuRef nsv909516 18 27164613 27200102 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558659 S 6533 1 0 DSG1 MS23472 nsv521618 18 27190831 27191190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698236 S 2026 0 1 DSG1 nsv909517 18 27210902 27272112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513730 S 6533 0 1 DSG4 SP55835 nsv524890 18 27221408 27310463 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700896 S 2026 1 0 DSG3,DSG4 nsv458045 18 27223042 27310463 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535101 S 1557 1 0 DSG3,DSG4 1780862557_A esv2751776 18 27224145 27311717 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983125,essv6983124,essv6983123 M 771 1 0 DSG3,DSG4 BEC_544 esv26807 18 27257298 27258314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17678 S 451 0 1 "" NA18907 esv267593 18 27257566 27257795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516661,essv2514123,essv2518783,essv2515788,essv2518121,essv2517798,essv2516866,essv2517292,essv2513930,essv2515271,essv2518877,essv2518320 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12045,NA12815,NA12872,NA12878,NA12892,NA18970,NA19143,NA19238,NA19239,NA19240 esv272807 18 27257573 27257792 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580221,essv2580302,essv2580057 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv991672 18 27257599 27257599 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579360 S 3 1 0 "" HuRef esv1389645 18 27257619 27257619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026932 S 2 1 0 "" HuRef nsv833615 18 27262394 27446974 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453945 S 95 1 0 DSG2,DSG3,TTR nsv909518 18 27263407 27303016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583079 S 6533 0 1 DSG3 IS36244 nsv437177 18 27283766 27293281 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467058 S 60 0 1 Samples from several populations that are part of the HapMap project. DSG3 NA10855 nsv438278 18 27287138 27288302 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470694,nssv470693,nssv470692,nssv470691 M 269 0 2 Samples from several populations that are part of the HapMap project. DSG3 NA10855,NA11832 nsv507867 18 27395426 27401426 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623242,nssv620628 M 4 2 0 "" NA15510,NA18994 esv23853 18 27400939 27402051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21155 S 451 0 1 "" NA18907 nsv909519 18 27426863 27584212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557558 S 6533 1 0 B4GALT6,TTR MS22754 nsv819046 18 27457486 27458228 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419076 S 2 0 1 B4GALT6 AK1 esv2577449 18 27516074 27517293 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345075 S 1 0 1 B4GALT6 NA18507 nsv2246 18 27558955 27574748 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5693 S 9 1 0 "" NA19129 esv29145 18 27624462 27645295 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13087 S 451 1 0 "" NA12828 nsv2247 18 27624840 27669710 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7378 S 9 0 1 TRAPPC8 NA12156 esv990849 18 27682803 27685173 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563692 S 3 0 1 TRAPPC8 HuRef nsv820095 18 27731464 27735067 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419563 S 2 0 1 TRAPPC8 AK1 nsv131072 18 27769530 27770863 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149650 M 24 TRAPPC8 esv1720728 18 27774565 27774565 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011783 S 2 1 0 TRAPPC8 HuRef esv1215312 18 27794597 27795077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640599 S 2 0 1 "" HuRef nsv524199 18 27849162 27852807 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700083 S 2026 0 1 RNF125 dgv1021e1 18 27886747 27928990 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6802,esv1029 M 271 0 0 RNF125,RNF138 NA18594 nsv909520 18 27899494 27920125 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518838 S 6533 1 0 RNF125 SP58299 dgv3404n71 18 27899494 27933920 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909521,nsv909523,nsv909522 M 6533 8 0 RNF125,RNF138 SP50876,SP51031,SP54384,SP54510,SP54734,SP55100,SP57278,SP58206 nsv2248 18 27928799 27945678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2193 S 9 1 0 RNF138 NA18555 esv2141547 18 27964804 27965198 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872778 S 1 0 1 RNF138 NA18507 esv1931613 18 27979428 27979853 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957193 S 1 0 1 "" NA18507 esv32777 18 27991072 27992015 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100813,essv98985,essv98126 M 51 2 1 "" 21656,21938,22259 nsv2249 18 27994192 28026646 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6751 S 9 1 0 MEP1B NA12156 nsv833616 18 28046334 28218210 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453949,nssv1453946,nssv1453956,nssv1453948,nssv1453947,nssv1453950,nssv1453951,nssv1453955,nssv1453952,nssv1453953,nssv1453954,nssv1453957,nssv1453960,nssv1453958,nssv1453959 M 95 15 0 FAM59A,MEP1B nsv528846 18 28086145 28144040 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705525 S 2026 1 0 FAM59A esv2632529 18 28141407 28143981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376960 S 1 0 1 FAM59A NA18507 esv26402 18 28141460 28143645 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17226,esv11116,esv14632,esv12965 M 451 20 0 FAM59A NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18858,NA18861,NA18909,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 nsv828205 18 28141460 28143645 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430991 S 31 0 1 FAM59A AK16 esv2517711 18 28141848 28144137 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363786 S 1 0 1 FAM59A NA18507 nsv9623 18 28141854 28143744 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24989,nssv27583,nssv24479,nssv24871,nssv23416,nssv21250,nssv24446,nssv21671,nssv24259,nssv23926,nssv25112,nssv25410,nssv26642,nssv26237,nssv23874,nssv27304,nssv24183,nssv27262,nssv24968,nssv27105 M 31 20 0 Samples from several populations that are part of the HapMap project. FAM59A NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19173,NA19240 nsv821392 18 28141914 28143635 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419984 S 1 0 1 FAM59A NA10851 esv2159930 18 28141976 28143684 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976306 S 1 0 1 FAM59A NA18507 nsv828206 18 28142158 28143441 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439365 S 31 1 0 FAM59A NA18973 nsv820046 18 28142431 28143726 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419227 S 2 1 0 FAM59A AK1 dgv3405n71 18 28369416 28469054 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909524,nsv909525 M 6533 0 11 "" IS35260,IS35379,IS35523,IS36244,IS36901,IS38409,IS38441,IS39528,IS41034,IS41892,MS26119 nsv909526 18 28378309 28513107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548780 S 6533 1 0 KLHL14 MS17878 esv270026 18 28443775 28444131 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510279,essv2500826,essv2505119,essv2500221,essv2505533,essv2512214,essv2503404,essv2508520,essv2508383,essv2507722,essv2505056,essv2494687,essv2506400,essv2494488,essv2500091,essv2508445,essv2509964,essv2495573,essv2503468,essv2497389,essv2505584,essv2501218,essv2504817,essv2503650,essv2503895,essv2499564,essv2513029 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07357,NA10847,NA10851,NA11830,NA11995,NA12006,NA12154,NA12155,NA12716,NA12717,NA12749,NA12751,NA12828,NA18519,NA18566,NA18572,NA18573,NA18582,NA18593,NA18916,NA18947,NA18959,NA19005,NA19093,NA19099 esv2439490 18 28446688 28447705 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195784 S 1 1 0 "" NA18507 nsv527853 18 28450802 28460208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704351 S 2026 0 1 "" esv998622 18 28547279 28558577 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565443 S 3 0 1 KLHL14 HuRef dgv1022e1 18 28637325 28828735 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv311,essv12721 M 271 0 0 C18orf34 NA18914 esv32785 18 28667357 28725469 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99415 S 51 1 0 "" 22335 nsv2250 18 28727756 28759925 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4314 S 9 0 1 "" NA12878 esv27606 18 28749708 28757535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20109 S 451 0 3 "" NA12878,NA19108,NA19147 nsv514863 18 28749988 28755040 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628301 S 1414 0 1 "" nsv528397 18 28752619 28810983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704987 S 2026 0 1 C18orf34 nsv909527 18 28802900 29162579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556446 S 6533 0 1 C18orf34 MS22008 nsv833617 18 28809109 28947585 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453963,nssv1453962,nssv1453961,nssv1453965,nssv1453964 M 95 5 0 C18orf34 esv2634635 18 28899775 28901352 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297462 S 1 0 1 C18orf34 NA18507 nsv130684 18 28930256 28930311 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149262 M 24 C18orf34 nsv131084 18 28930300 28930355 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149662 M 24 C18orf34 esv2593101 18 29096947 29098632 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179868 S 1 0 1 C18orf34 NA18507 esv2453134 18 29100274 29101938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246165 S 1 0 1 C18orf34 NA18507 nsv438279 18 29106117 29116515 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470695,nssv470698,nssv470697 M 269 0 3 Samples from several populations that are part of the HapMap project. C18orf34 NA18624,NA18968,NA19007 esv2541909 18 29124130 29125637 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177607 S 1 0 1 C18orf34 NA18507 nsv909528 18 29129116 29265924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579338 S 6533 0 1 C18orf34 IS35083 nsv909529 18 29212152 29296853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566823 S 6533 0 1 C18orf34 IS30925 nsv520131 18 29236866 29256803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697240 S 2026 0 1 C18orf34 nsv833618 18 29251935 29427023 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453966 S 95 1 0 ASXL3,C18orf34 esv270433 18 29313191 29313462 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505863,essv2513418,essv2504636 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18861,NA18907,NA19099 nsv909530 18 29335121 29407198 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501994 S 6533 1 0 "" SP50690 nsv131173 18 29405460 29405531 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149751 M 24 "" nsv131746 18 29568096 29568096 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150324 M 24 ASXL3 nsv819880 18 29573298 29573596 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419836 S 2 0 1 ASXL3 AK1 dgv379n27 18 29637887 29674008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458047,nsv458046 M 1557 0 2 "" 1780862276_A,1780862345_A nsv828207 18 29652539 29658072 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430964 S 31 1 0 "" NA18947 nsv512525 18 29653368 29655154 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625128 S 1 0 1 "" 1 nsv458048 18 29674008 29751344 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535104 S 1557 0 1 NOL4 1780862093_A nsv909531 18 29688484 29778911 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588067 S 6533 1 0 NOL4 IS38151 nsv909532 18 29751344 29972523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519661 S 6533 0 1 NOL4 SP50101 esv267479 18 29787177 29787482 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514651,essv2516622,essv2518714,essv2518512,essv2517974,essv2515914,essv2514400,essv2519090 M 157 8 0 Samples from several populations that are part of the HapMap project. NOL4 NA11840,NA11881,NA12045,NA12287,NA12872,NA12873,NA12874,NA19141 nsv132109 18 29787207 29787207 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150687 M 24 NOL4 nsv458049 18 29811111 29846136 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535105 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NOL4 HGDP01256 nsv909533 18 29861746 29933547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542316 S 6533 0 1 NOL4 MS15749 nsv909534 18 29861746 30042025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551831 S 6533 0 1 NOL4 MS18978 nsv470415 18 29967348 30042456 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547081 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NOL4 HGDP00866 nsv909535 18 29972523 30081833 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588068 S 6533 1 0 NOL4 IS38151 esv2019786 18 30000533 30001232 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844094 S 1 0 1 NOL4 NA18507 esv3222 18 30000623 30001240 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25663 S 1 0 1 Single Asian sample YH NOL4 YH esv1010069 18 30000704 30001040 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578586 S 3 0 1 NOL4 HuRef dgv58n6 18 30000704 30001054 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131590,nsv131123 M 24 NOL4 esv1694854 18 30000717 30001054 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122102 S 2 0 1 NOL4 HuRef nsv519676 18 30005069 30005999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696987 S 2026 1 0 NOL4 nsv833619 18 30109036 30293803 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453967 S 95 1 0 "" nsv909536 18 30272073 30343848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557006 S 6533 0 1 DTNA MS22322 nsv516464 18 30333530 30339720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668548,nssv668632,nssv693779 M 2026 0 3 DTNA nsv525306 18 30333530 30357167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701413 S 2026 0 1 DTNA nsv2251 18 30398963 30408650 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5694 S 9 1 0 DTNA NA19129 nsv131325 18 30587307 30587655 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149903 M 24 DTNA dgv3406n71 18 30741953 30860380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909538,nsv909537 M 6533 0 2 MAPRE2 IS30311,IS35911 esv2391457 18 30784780 30785415 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584102 S 1 0 1 "" NA18507 esv4733 18 30784922 30785302 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27174 S 1 0 1 Single Asian sample YH "" YH nsv516682 18 30797532 30811679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670120,nssv679972 M 2026 0 2 MAPRE2 nsv132225 18 30818964 30819014 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150803 M 24 MAPRE2 esv2458354 18 30915300 30916913 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286836 S 1 0 1 MAPRE2 NA18507 esv2362277 18 30915745 30916478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770192 S 1 0 1 MAPRE2 NA18507 esv7024 18 30915964 30916266 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29465 S 1 0 1 MAPRE2 SJK nsv828209 18 30987497 30990382 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425397 S 31 0 1 "" AK2 nsv828210 18 31006651 31007525 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432528 S 31 0 1 "" AK20 esv25322 18 31013744 31021792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19365 S 451 0 1 "" NA18502 esv270226 18 31087974 31088741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514087 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF397,ZSCAN30 NA12043 nsv2252 18 31279912 31326016 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6752 S 9 0 1 INO80C NA12156 esv2466134 18 31398362 31400045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380302 S 1 0 1 "" NA18507 esv24136 18 31414795 31415917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19153 S 451 0 1 "" NA12489 esv2486401 18 31454563 31456018 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223333 S 1 0 1 "" NA18507 esv2024416 18 31455011 31455692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949877 S 1 0 1 "" NA18507 esv4027 18 31455113 31455581 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26468 S 1 0 1 Single Asian sample YH "" YH esv2582964 18 31455197 31455522 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175486 S 1 0 1 "" NA18507 nsv2253 18 31548610 31559822 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4642 S 9 0 1 "" NA19129 nsv2255 18 31591628 31623948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6753 S 9 1 0 "" NA12156 nsv524112 18 31594247 31611866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699990 S 2026 0 1 "" nsv528670 18 31604915 31605822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705308 S 2026 0 1 "" esv2462248 18 31643944 31645414 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214360 S 1 0 1 "" NA18507 esv2146905 18 31644059 31644733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559501 S 1 0 1 "" NA18507 nsv519182 18 31651305 31662316 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696666 S 2026 0 1 "" nsv523832 18 31651305 31670273 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699663 S 2026 0 1 "" esv3253 18 31666188 31674459 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25694 S 1 0 1 Single Asian sample YH "" YH esv2177012 18 31791295 31791682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677752 S 1 0 1 "" NA18507 esv1506593 18 31842539 31842539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259203 S 2 1 0 RPRD1A HuRef esv25678 18 31848882 31850935 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12988 S 451 0 1 RPRD1A NA12004 nsv7303 18 31849863 31861728 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10984 S 9 0 0 RPRD1A NA15510 nsv522157 18 31866827 31879368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694931 S 2026 0 1 RPRD1A esv275291 18 31882713 31890064 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586162 S 1250 0 1 RPRD1A nsv526055 18 31973042 31998700 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702293 S 2026 0 1 ELP2 esv987550 18 32021203 32030994 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563574 S 3 0 1 MOCOS HuRef nsv522803 18 32021747 32033703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698448 S 2026 0 1 MOCOS esv268498 18 32022703 32022980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548293,essv2520560,essv2544589,essv2542874,essv2565051,essv2566130,essv2531049,essv2532577,essv2572982,essv2555640,essv2526869,essv2538120,essv2533017 M 157 13 0 Samples from several populations that are part of the HapMap project. MOCOS NA07000,NA07051,NA12045,NA12716,NA18526,NA18550,NA18558,NA18572,NA18573,NA18576,NA18942,NA18945,NA19005 nsv130568 18 32027290 32035624 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149146 M 24 MOCOS nsv909539 18 32091493 32127413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541762 S 6533 1 0 MOCOS MS15485 nsv524668 18 32105471 32106615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700637 S 2026 0 1 "" nsv522170 18 32143579 32156598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694943 S 2026 0 1 FHOD3 nsv527769 18 32233409 32283169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704258 S 2026 0 1 FHOD3 nsv828211 18 32237778 32238306 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432533 S 31 0 1 FHOD3 AK20 dgv1023e1 18 32241210 32272575 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13209,esv1389 M 271 0 0 FHOD3 NA19120 nsv833620 18 32252405 32457732 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453969,nssv1453968 M 95 2 0 FHOD3 nsv819365 18 32256838 32262178 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419701 S 2 0 1 FHOD3 AK1 nsv909540 18 32283169 32638832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530193 S 6533 1 0 C18orf10,FHOD3 MS10228 nsv525007 18 32290294 32291551 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701042 S 2026 0 1 FHOD3 esv996876 18 32291688 32297280 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565494 S 3 1 0 FHOD3 HuRef nsv9625 18 32292885 32298321 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27591 S 31 0 1 Samples from several populations that are part of the HapMap project. FHOD3 NA18860 nsv513492 18 32296940 32297618 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625900 S 1 1 0 FHOD3 1 esv1752551 18 32297375 32297375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290978 S 2 1 0 FHOD3 HuRef esv1093578 18 32297383 32297383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841783 S 2 1 0 FHOD3 HuRef dgv1024e1 18 32304033 32735865 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1806,esv843,essv392 M 271 0 0 C18orf10,FHOD3,KIAA1328 NA18971 esv21615 18 32305194 32307641 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19779 S 451 0 1 FHOD3 NA18916 nsv518778 18 32306136 32306192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696231 S 2026 0 1 FHOD3 nsv909541 18 32337334 32373815 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548781 S 6533 1 0 FHOD3 MS17878 nsv130624 18 32347988 32353916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149202 M 24 FHOD3 esv34228 18 32370299 32683125 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978136,essv6978137,essv6978138,essv6978139,essv6990201 M 771 1 0 C18orf10,FHOD3,KIAA1328 NA18971 nsv817789 18 32370299 32690368 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417558 S 112 1 0 C18orf10,FHOD3,KIAA1328 NA18971 nsv438280 18 32373426 32438195 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470699 S 269 0 1 Samples from several populations that are part of the HapMap project. FHOD3 NA18971 nsv2256 18 32395946 32429229 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7379 S 9 1 0 FHOD3 NA12156 nsv9626 18 32407624 32412027 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24505 S 31 0 1 Samples from several populations that are part of the HapMap project. FHOD3 NA19007 nsv909542 18 32428956 32474489 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548782 S 6533 1 0 FHOD3 MS17878 nsv909543 18 32461905 32506747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600276 S 6533 0 1 FHOD3 IS41866 nsv526596 18 32487229 32487640 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702915 S 2026 1 0 FHOD3 nsv909544 18 32497128 32625859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555382 S 6533 1 0 FHOD3 MS21308 nsv437823 18 32497970 32515046 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467704 S 60 0 1 Samples from several populations that are part of the HapMap project. FHOD3 NA18503 nsv436238 18 32506084 32513933 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465644 S 2 0 1 Samples from several populations that are part of the HapMap project. FHOD3 NA18505 esv24629 18 32507174 32513837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20080 S 451 0 1 FHOD3 NA18505 nsv442433 18 32508865 32513777 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FHOD3 nsv438282 18 32509114 32510666 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470701,nssv470700 M 269 0 2 Samples from several populations that are part of the HapMap project. FHOD3 NA18503,NA18505 nsv132037 18 32597574 32597629 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150615 M 24 FHOD3 nsv438283 18 32655158 32679797 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470702 S 269 0 1 Samples from several populations that are part of the HapMap project. C18orf10,KIAA1328 NA18971 nsv909545 18 32662316 32959745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526970 S 6533 0 1 C18orf10,KIAA1328 SP58026 nsv909546 18 32735865 32995109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555383 S 6533 1 0 KIAA1328 MS21308 esv27487 18 32763246 32766004 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13882 S 451 0 2 KIAA1328 NA18916,NA19114 esv2140858 18 32834438 32834856 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4761047 S 1 0 1 KIAA1328 NA18507 nsv2257 18 32860311 32878773 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4315 S 9 1 0 KIAA1328 NA12878 nsv909547 18 32959745 33168744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548783 S 6533 1 0 CELF4,KIAA1328 MS17878 nsv833621 18 32961686 33136674 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453970 S 95 0 1 CELF4,KIAA1328 nsv2258 18 32993780 33038203 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4643 S 9 0 1 KIAA1328 NA19129 esv2562764 18 33117603 33118163 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371113 S 1 1 0 CELF4 NA18507 nsv513493 18 33117718 33118214 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625902 S 1 1 0 CELF4 1 nsv527900 18 33132224 33136657 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704404 S 2026 0 1 CELF4 nsv518594 18 33156345 33159109 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696041 S 2026 1 0 CELF4 esv4383 18 33171943 33172456 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26824 S 1 0 1 Single Asian sample YH CELF4 YH esv21448 18 33171947 33172402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13325 S 451 0 1 CELF4 NA19190 dgv59n6 18 33172084 33172423 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131412,nsv132067 M 24 CELF4 nsv833622 18 33200000 33382388 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453972,nssv1453973,nssv1453971 M 95 0 3 CELF4 nsv458053 18 33207043 33235614 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535107 S 1557 0 1 CELF4 NINDS_69 nsv509689 18 33270910 33373773 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623732,nssv619725 M 4 2 0 CELF4 NA10860,NA18994 nsv458055 18 33296880 33321125 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535108 S 1557 0 1 CELF4 1780854492_A esv1711446 18 33325159 33325159 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036890 S 2 1 0 CELF4 HuRef nsv524947 18 33328480 33328759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700965 S 2026 0 1 CELF4 nsv2259 18 33334136 33379367 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7380 S 9 0 1 CELF4 NA12156 esv34087 18 33350466 33531547 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CELF4,MIR4318 nsv509691 18 33499815 33579170 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619726 S 4 1 0 "" NA10860 nsv512526 18 33559465 33561426 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625129 S 1 0 1 "" 1 nsv819232 18 33559951 33560682 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419075 S 2 0 1 "" AK1 esv2966 18 33560020 33560768 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25407 S 1 0 1 Single Asian sample YH "" YH nsv828212 18 33560039 33560600 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432534,nssv1427922,nssv1423839,nssv1438503,nssv1429475,nssv1436674,nssv1430992,nssv1434780,nssv1440719,nssv1430228,nssv1430977,nssv1433321,nssv1423040,nssv1428719,nssv1425399,nssv1426218,nssv1439366,nssv1437110,nssv1424638 M 31 3 16 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK8,NA18542,NA18547,NA18564,NA18570,NA18582,NA18592,NA18947,NA18951,NA18972,NA18973,NA18999 nsv821236 18 33560039 33560645 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419985 S 1 0 1 "" NA10851 nsv828213 18 33560039 33560645 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421786,nssv1434064,nssv1422248,nssv1431716,nssv1436235,nssv1440031,nssv1437837,nssv1423018 M 31 0 8 "" AK18,NA18526,NA18537,NA18552,NA18566,NA18949,NA18969,NA18997 esv6044 18 33560058 33560640 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28485 S 1 0 1 "" SJK esv29000 18 33560073 33560645 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16254 S 451 5 1 "" NA12044,NA12156,NA18508,NA18858,NA19108,NA19147 esv4731 18 33569571 33570122 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27172 S 1 0 1 Single Asian sample YH "" YH esv994611 18 33569620 33569937 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570617 S 3 0 1 "" HuRef esv1649801 18 33569634 33569952 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712839 S 2 0 1 "" HuRef nsv131974 18 33569635 33569952 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150552 M 24 "" esv6023 18 33569635 33569957 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28464 S 1 0 1 "" SJK esv275581 18 33612893 33616739 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585277,essv2585882 M 1250 1 1 "" esv2491511 18 33614025 33614642 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288971 S 1 1 0 "" NA18507 esv1052786 18 33614461 33614461 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145242 S 2 1 0 "" HuRef esv2150157 18 33614698 33615116 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798680 S 1 0 1 "" NA18507 nsv2260 18 33651576 33697019 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5695 S 9 0 1 "" NA19129 nsv442434 18 33787635 33791132 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv520984 18 33788038 33789684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691981,nssv679171 M 2026 0 2 "" esv22472 18 33804539 33805940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19733 S 451 0 3 "" NA18907,NA19114,NA19225 esv2291226 18 33820972 33821411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684355 S 1 0 1 "" NA18507 nsv833623 18 33833685 34045546 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453974 S 95 1 0 "" nsv520543 18 33939251 33941894 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697477 S 2026 0 1 "" nsv909548 18 34008140 34093251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548784 S 6533 1 0 "" MS17878 nsv524335 18 34029234 34038769 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700242 S 2026 0 1 "" nsv527743 18 34078343 34093363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704229 S 2026 0 1 "" esv1007852 18 34080676 34088885 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564471 S 3 0 1 "" HuRef esv2422089 18 34081395 34092156 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015141,essv5029898,essv5119835,essv5039255,essv5090341,essv5017934,essv5149485,essv5058055,essv5097529,essv5020749,essv5101056,essv5054060 M 1184 0 12 "" NA19313,NA19334,NA19398,NA19443,NA21344,NA21399,NA21402,NA21404,NA21405,NA21573,NA21631,NA21741 nsv521820 18 34087299 34090565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694591 S 2026 0 1 "" nsv524150 18 34131180 34145420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700029 S 2026 0 1 "" nsv515553 18 34214924 34221480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684570,nssv668813,nssv671846,nssv683236,nssv666513,nssv665800,nssv679641,nssv663888,nssv661878,nssv686951,nssv682060 M 2026 0 11 "" esv29185 18 34217777 34221782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21251 S 451 0 2 "" NA18508,NA18858 nsv909549 18 34279407 34349092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555039 S 6533 0 1 "" MS21163 nsv131721 18 34306141 34306224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150299 M 24 "" nsv521112 18 34318613 34323444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682371,nssv687741 M 2026 0 2 "" nsv909550 18 34353899 34395660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583192 S 6533 0 1 "" IS36316 esv24391 18 34398561 34399297 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10239 S 451 0 1 "" NA19257 nsv513494 18 34399124 34400039 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625903 S 1 1 0 "" 1 esv1786452 18 34399753 34399753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054213 S 2 1 0 "" HuRef nsv909551 18 34414015 34536389 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548785 S 6533 1 0 "" MS17878 esv1471935 18 34415493 34415575 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754812 S 2 0 1 "" HuRef esv2609241 18 34766005 34766998 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366298 S 1 1 0 "" NA18507 esv269744 18 34766507 34766845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575971,essv2540894,essv2571708,essv2546516,essv2526282,essv2542500,essv2536783,essv2522655,essv2543994,essv2570851,essv2556472,essv2568268,essv2545504,essv2531733,essv2577263,essv2570689,essv2548475,essv2521769,essv2576836,essv2525275,essv2550366,essv2535416,essv2554164,essv2552275,essv2520335,essv2547402,essv2558332,essv2564456,essv2578096,essv2553707,essv2565263,essv2576395,essv2520054,essv2564161,essv2555003,essv2561955,essv2537236,essv2528372,essv2547041,essv2530484,essv2557208,essv2552716,essv2562557,essv2569619,essv2578685,essv2550164,essv2537057,essv2569711,essv2527369,essv2561695,essv2562898,essv2523541,essv2552964,essv2541374,essv2540232,essv2524661,essv2564899,essv2534703,essv2539538,essv2549289,essv2560136,essv2522067,essv2566232,essv2530913,essv2567818,essv2529007,essv2567505,essv2541572,essv2570130,essv2553313,essv2535692,essv2572315,essv2559042,essv2569147,essv2543480,essv2556267,essv2528081,essv2562473,essv2539454,essv2533850,essv2578419,essv2573186,essv2555237,essv2533592,essv2530099,essv2573849,essv2527413,essv2555960,essv2534219,essv2573658,essv2543053,essv2526928,essv2529496,essv2538684,essv2560727,essv2574802,essv2530314,essv2572802,essv2568607,essv2545115,essv2549617,essv2571108,essv2546039,essv2574459,essv2535902,essv2537912,essv2549101,essv2533128,essv2554338,essv2524984,essv2563490,essv2558111 M 157 112 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18486,NA18501,NA18502,NA18507,NA18508,NA18510,NA18511,NA18517,NA18520,NA18522,NA18523,NA18532,NA18537,NA18542,NA18545,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18949,NA18951,NA18952,NA18956,NA18959,NA18964,NA18965,NA19005,NA19093,NA19108,NA19116,NA19138,NA19141,NA19143,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240 esv272449 18 34766507 34766845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581965,essv2582637,essv2583263,essv2584063,essv2584818,essv2583311 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1390729 18 34766544 34766544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604113 S 2 1 0 "" HuRef nsv2261 18 34881903 34929468 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1402 S 9 0 1 "" NA19240 esv268784 18 34903478 34903563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514491 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv2560138 18 34909356 34911412 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305080 S 1 0 1 "" NA18507 nsv498878 18 34910873 34920709 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585739 S 9 0 1 "" esv25792 18 34910886 34920742 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12999 S 451 0 2 "" NA18858,NA19240 nsv514864 18 34910932 34920608 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628302 S 1414 0 1 "" esv2421912 18 34911440 34920221 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016191,essv5149895,essv5042329,essv5115384,essv5061852,essv5081060,essv5160918,essv5036984,essv5074818,essv5134397,essv5140112,essv5136894,essv5114532,essv5021119,essv5121698,essv5004470,essv5134070,essv5034549,essv5103002,essv5056834,essv5040335,essv5148955,essv5079660,essv5019296,essv5049456,essv5055987,essv5081537,essv5047481,essv5048794,essv5010052 M 1184 0 30 "" NA18858,NA18860,NA19027,NA19193,NA19194,NA19239,NA19240,NA19311,NA19396,NA19397,NA19431,NA19438,NA19446,NA19462,NA20347,NA20363,NA21316,NA21357,NA21359,NA21361,NA21368,NA21423,NA21434,NA21457,NA21510,NA21573,NA21576,NA21577,NA21685,NA21738 nsv442435 18 34911440 34920221 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv833624 18 35066932 35247233 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453976,nssv1453975,nssv1453977 M 95 1 2 LOC647946 esv4916 18 35070096 35070337 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27357 S 1 0 1 Single Asian sample YH LOC647946 YH esv1103359 18 35070175 35070278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814917 S 2 0 1 LOC647946 HuRef esv271426 18 35074027 35076407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514457 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC647946 NA12874 nsv518021 18 35107732 35113200 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695431 S 2026 0 1 LOC647946 nsv132102 18 35116042 35116042 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150680 M 24 LOC647946 esv2315224 18 35157641 35158056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915506 S 1 0 1 LOC647946 NA18507 nsv131527 18 35157767 35157840 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150105 M 24 LOC647946 nsv131786 18 35157842 35157915 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150364 M 24 LOC647946 esv1027760 18 35158849 35158849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672890 S 2 1 0 LOC647946 HuRef nsv833626 18 35200904 35355309 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453978 S 95 0 1 LOC647946 nsv833627 18 35233797 35380105 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453979 S 95 1 0 LOC647946 nsv518996 18 35242311 35338454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696463 S 2026 0 1 LOC647946 nsv518471 18 35266706 35540370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695907 S 2026 0 1 LOC647946 esv1617092 18 35311190 35311190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007285 S 2 1 0 LOC647946 HuRef esv2643105 18 35314993 35316493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223365 S 1 0 1 LOC647946 NA18507 esv1965311 18 35315446 35316170 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858508 S 1 0 1 LOC647946 NA18507 esv990579 18 35315498 35316327 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564217 S 3 0 1 LOC647946 HuRef esv5226 18 35315597 35316156 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27667 S 1 0 1 Single Asian sample YH LOC647946 YH dgv60n6 18 35315631 35315974 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131387,nsv131513 M 24 LOC647946 esv9054 18 35315633 35315962 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31495 S 1 0 1 LOC647946 SJK esv991309 18 35315640 35315969 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581685 S 3 0 1 LOC647946 HuRef esv1512882 18 35315644 35315974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124570 S 2 0 1 LOC647946 HuRef nsv519944 18 35387259 35395199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659591,nssv690550 M 2026 0 2 LOC647946 nsv510735 18 35396386 35411565 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620107 S 4 0 1 LOC647946 NA15510 nsv507868 18 35401703 35407703 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619200,nssv623244,nssv617935 M 4 3 0 LOC647946 CHM,NA10860,NA18994 nsv909552 18 35471396 35851608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548786 S 6533 1 0 LOC647946 MS17878 esv993075 18 35511614 35519364 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564638 S 3 0 1 LOC647946 HuRef dgv1025e1 18 35736115 35903305 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5270,esv352 M 271 0 0 "" NA18624 nsv909553 18 35744297 35826088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568708 S 6533 0 1 "" IS31330 nsv9627 18 35757036 35770901 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27115,nssv27309 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132 nsv2262 18 35768560 35803463 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4316 S 9 1 0 "" NA12878 nsv512527 18 35804098 35806646 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625130 S 1 0 1 "" 1 esv1205796 18 35805497 35805899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911279 S 2 0 1 "" HuRef esv1457594 18 35805986 35806042 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3607788 S 2 0 1 "" HuRef esv27922 18 35820615 35821103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12157 S 451 0 1 "" NA19147 nsv131359 18 35834375 35834375 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149937 M 24 "" nsv2263 18 35870370 35904617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7381 S 9 1 0 "" NA12156 nsv510452 18 36016865 36022865 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621452 S 4 0 1 "" NA15510 nsv519000 18 36085155 36104003 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694296 S 2026 1 0 "" nsv909554 18 36106156 36238798 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577518 S 6533 1 0 "" IS34477 nsv458057 18 36169650 36195504 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535109 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00886 esv1006112 18 36184889 36185515 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586099 S 3 0 1 "" HuRef nsv438284 18 36241530 36249382 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470703 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18506 nsv909555 18 36255130 36291219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577519 S 6533 1 0 "" IS34477 nsv909556 18 36255130 36321011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581429 S 6533 0 1 "" IS35572 nsv909557 18 36257764 36431363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564157 S 6533 0 1 "" IS30171 nsv471798 18 36260200 36261019 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646079 M 1.289 95 "" esv7331 18 36260256 36261000 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29772 S 1 0 1 "" SJK nsv828214 18 36260561 36261007 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423053 S 31 0 1 "" NA18547 nsv516683 18 36315699 36319558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660560,nssv670137 M 2026 0 2 "" nsv828215 18 36321902 36322466 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426220 S 31 1 0 "" AK4 nsv2264 18 36329177 36362917 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7382 S 9 1 0 "" NA12156 esv2573296 18 36367690 36369089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272994 S 1 0 1 "" NA18507 nsv833628 18 36430587 36595707 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453980,nssv1453981 M 95 2 0 "" esv2557251 18 36431426 36432575 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310374 S 1 1 0 "" NA18507 nsv510736 18 36506049 36519265 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618954 S 4 0 1 "" NA10860 nsv511607 18 36511380 36524196 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626237 S 1 1 0 "" 1 nsv819073 18 36513038 36520815 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419842 S 2 0 1 "" AK1 dgv548n67 18 36513737 36520654 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828217,nsv828216 M 31 0 19 "" AK10,AK12,AK16,AK20,AK4,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18969,NA18972,NA18999 nsv9628 18 36513759 36521669 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24418,nssv23444,nssv23809,nssv27313,nssv26255,nssv27318,nssv23538,nssv24209,nssv24993,nssv27125,nssv28411,nssv24315,nssv24926,nssv24651,nssv25014,nssv26655 M 31 0 16 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA12155,NA12740,NA18502,NA18537,NA18552,NA18563,NA18853,NA18942,NA18972,NA18975,NA18980,NA19132,NA19221,NA19240 esv21725 18 36513895 36520704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14130 S 451 0 16 "" NA07037,NA11993,NA12006,NA12044,NA12239,NA12287,NA12489,NA12776,NA12878,NA18502,NA18523,NA18909,NA19129,NA19147,NA19190,NA19240 esv8411 18 36513895 36520751 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30852 S 1 0 1 "" SJK nsv442750 18 36514418 36519387 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421819 18 36514418 36519446 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091609,essv5012673,essv5009582,essv5160325,essv5104329,essv5007982,essv5155226,essv5050592,essv5027941,essv5106781,essv5069441,essv5075230,essv5035593,essv5042705,essv5104851,essv5086689,essv5012140,essv5159661,essv5143194,essv5125650,essv5083382,essv5103516,essv5055078,essv5143538,essv5022171,essv5064238,essv5108439,essv5143962,essv5135702,essv5103079,essv5131595,essv5085367,essv5113692,essv5110329,essv5126767,essv5049163,essv5073523,essv5153532,essv5125546,essv5050450,essv5145384,essv5076385,essv5052341,essv5131134,essv5101706,essv5134430,essv5147934,essv5133311,essv5105838,essv5084683,essv5060111,essv5031682,essv5102512,essv5114860,essv5132940,essv5125901,essv5114920,essv5086614,essv5159827,essv5041895,essv5139236,essv5005891,essv5151211,essv5032934,essv5095283,essv5028016,essv5023874,essv5031406,essv5064224,essv5008496,essv5133111,essv5039768,essv5036352,essv5091174,essv5028412,essv5118018,essv5042669,essv5154785,essv5060874,essv5096790,essv5040363,essv5064938,essv5063455,essv5030743,essv5101883,essv5031998,essv5020860,essv5155640,essv5124486,essv5090296,essv5126638,essv5028062,essv5032156,essv5150411,essv5099546,essv5033383,essv5072218,essv5113490,essv5022802,essv5136936,essv5016970,essv5001991,essv5015766,essv5127105,essv5024569,essv5137247,essv5125180,essv5076048,essv5074842,essv5096402,essv5010038,essv5070576,essv5024460,essv5039619,essv5128196,essv5024298,essv5106583,essv5020768,essv5106019,essv5036879,essv5116585,essv5061340,essv5026521,essv5131893,essv5019691,essv5026695,essv5151392,essv5058080,essv5030298,essv5042423,essv5013348,essv5127200,essv5055862,essv5045138,essv5084053,essv5049186,essv5085564,essv5036912,essv5056695,essv5078145,essv5117578,essv5046686,essv5072657,essv5056299,essv5110861,essv5096179,essv5159338,essv5063592,essv5056271,essv5046887,essv5116440,essv5096230,essv5011066,essv5038615,essv5130793,essv5138506,essv5021055,essv5069445,essv5122285,essv5102810,essv5005200,essv5112290,essv5025167,essv5017592,essv5009892,essv5093071,essv5028119,essv5158111,essv5145246,essv5093181,essv5134810,essv5139432,essv5060485,essv5160633,essv5093180,essv5030520,essv5057849,essv5161151,essv5079354,essv5008572,essv5016946,essv5036594,essv5079410,essv5020153,essv5155250,essv5137194,essv5063706,essv5010804,essv5133255,essv5035660,essv5115484,essv5108024,essv5014550,essv5008039,essv5070928,essv5067163,essv5108527,essv5053123,essv5101400,essv5047321,essv5124338,essv5140098,essv5027695,essv5117806,essv5112883,essv5021043,essv5131570,essv5004980,essv5070041,essv5091300,essv5017080,essv5106370,essv5028096,essv5007842,essv5006995,essv5004223,essv5088936,essv5125591,essv5021180,essv5012307,essv5061318,essv5076848,essv5023770,essv5101314,essv5108657,essv5044642,essv5010567,essv5157421,essv5065892,essv5033970,essv5124179,essv5061536,essv5070643,essv5094133,essv5038054,essv5154051,essv5106809,essv5046614,essv5069133,essv5111977,essv5123294,essv5154559,essv5081088,essv5154026,essv5002011,essv5078937,essv5053810,essv5062488,essv5025102,essv5035460,essv5089914,essv5146686,essv5123209,essv5050133,essv5098804,essv5027051,essv5014462,essv5148501,essv5129559,essv5012770,essv5053428,essv5033119,essv5015314,essv5067226,essv5011293,essv5074423,essv5143160,essv5118206,essv5038447,essv5135076,essv5124220,essv5002055,essv5031669,essv5044508,essv5029880,essv5092016,essv5042037,essv5004874,essv5074586,essv5147129,essv5003885,essv5006129,essv5023469,essv5117902,essv5082719,essv5136235,essv5097344,essv5121624,essv5027029,essv5009419,essv5045115,essv5119375,essv5043361,essv5157949,essv5104051,essv5023749,essv5006884,essv5080485,essv5061802,essv5096557,essv5141635,essv5036958,essv5034671,essv5054015,essv5081923,essv5129651,essv5078067,essv5111046,essv5108802,essv5103460,essv5108009,essv5042230,essv5096428,essv5074188,essv5095105,essv5085268,essv5080750,essv5072043,essv5035774,essv5114916,essv5009705,essv5123338,essv5075838,essv5020431,essv5094000,essv5085293,essv5123312,essv5154101,essv5113654,essv5043419,essv5004146,essv5101082,essv5130448,essv5014777,essv5065583,essv5036248,essv5092068,essv5003626,essv5064738,essv5045500,essv5055781,essv5054282,essv5137680,essv5050313,essv5011622,essv5045342,essv5047323,essv5069240,essv5145709,essv5077275,essv5116642,essv5122618,essv5025324,essv5151221,essv5041240,essv5024902,essv5066845,essv5158501,essv5158705,essv5074032,essv5039633,essv5106841,essv5002472,essv5093235,essv5051814,essv5042398,essv5093002,essv5035880,essv5041008,essv5035582,essv5126133,essv5124221,essv5106930,essv5097860,essv5072790,essv5057738,essv5057965,essv5008196,essv5107753,essv5065193,essv5110125,essv5082009,essv5073171,essv5136217,essv5118949,essv5031147,essv5002201,essv5115381,essv5056245,essv5096705,essv5100480,essv5055798,essv5130727,essv5076326,essv5030040,essv5079507,essv5148589,essv5017058,essv5138334,essv5150298,essv5152168,essv5090180,essv5131288,essv5064553,essv5037650,essv5100117,essv5027266,essv5149191,essv5012846,essv5038881,essv5124922,essv5034267,essv5096586,essv5113612,essv5027561,essv5070965,essv5091431,essv5027413,essv5106525,essv5014386,essv5017661,essv5149728,essv5087797,essv5110009,essv5021919,essv5153766,essv5075949,essv5099380,essv5145754,essv5011599,essv5044103,essv5014774,essv5015438,essv5029332,essv5099362,essv5119657,essv5107407,essv5032159,essv5041091,essv5070461,essv5004117,essv5074574,essv5017916,essv5136102,essv5061337,essv5107119,essv5123184,essv5013833,essv5072465,essv5128354,essv5068038,essv5119874,essv5154011,essv5030863,essv5015709,essv5144681,essv5065952,essv5037634,essv5124160,essv5154860,essv5070932,essv5067356,essv5126540,essv5059555,essv5026936,essv5117445,essv5020107 M 1184 0 467 "" NA06986,NA06991,NA06993,NA06994,NA07000,NA07029,NA07037,NA07055,NA07346,NA07347,NA10830,NA10835,NA10836,NA10839,NA10843,NA10853,NA10854,NA10856,NA11829,NA11832,NA11840,NA11843,NA11892,NA11917,NA11919,NA11920,NA11930,NA11993,NA12005,NA12006,NA12044,NA12145,NA12154,NA12155,NA12239,NA12248,NA12264,NA12272,NA12275,NA12286,NA12287,NA12335,NA12340,NA12343,NA12344,NA12347,NA12375,NA12376,NA12383,NA12386,NA12399,NA12489,NA12708,NA12718,NA12739,NA12740,NA12748,NA12750,NA12751,NA12752,NA12753,NA12761,NA12763,NA12766,NA12767,NA12776,NA12777,NA12801,NA12812,NA12829,NA12843,NA12864,NA12873,NA12877,NA12878,NA12889,NA12890,NA12891,NA17966,NA17969,NA17972,NA17975,NA17979,NA17983,NA17989,NA17995,NA17997,NA18101,NA18106,NA18108,NA18109,NA18117,NA18118,NA18120,NA18125,NA18129,NA18131,NA18133,NA18136,NA18139,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18154,NA18158,NA18159,NA18166,NA18484,NA18488,NA18497,NA18498,NA18500,NA18526,NA18532,NA18536,NA18537,NA18543,NA18548,NA18552,NA18558,NA18559,NA18561,NA18562,NA18563,NA18566,NA18570,NA18577,NA18582,NA18592,NA18593,NA18594,NA18608,NA18612,NA18613,NA18614,NA18617,NA18621,NA18623,NA18624,NA18626,NA18630,NA18631,NA18633,NA18634,NA18639,NA18641,NA18642,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18740,NA18747,NA18749,NA18853,NA18855,NA18857,NA18862,NA18863,NA18871,NA18872,NA18909,NA18910,NA18911,NA18913,NA18914,NA18924,NA18925,NA18942,NA18943,NA18949,NA18953,NA18954,NA18955,NA18959,NA18961,NA18962,NA18963,NA18964,NA18965,NA18969,NA18970,NA18972,NA18975,NA18976,NA18977,NA18979,NA18980,NA18981,NA18991,NA18993,NA18995,NA18998,NA18999,NA19002,NA19005,NA19010,NA19027,NA19036,NA19038,NA19054,NA19056,NA19058,NA19060,NA19063,NA19064,NA19065,NA19070,NA19074,NA19076,NA19077,NA19078,NA19079,NA19086,NA19102,NA19103,NA19128,NA19129,NA19130,NA19132,NA19147,NA19182,NA19190,NA19191,NA19192,NA19194,NA19197,NA19198,NA19199,NA19203,NA19221,NA19223,NA19238,NA19240,NA19311,NA19316,NA19346,NA19347,NA19352,NA19376,NA19383,NA19404,NA19430,NA19434,NA19439,NA19469,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19659,NA19661,NA19664,NA19665,NA19676,NA19677,NA19679,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19705,NA19712,NA19725,NA19727,NA19749,NA19750,NA19755,NA19757,NA19760,NA19761,NA19770,NA19772,NA19773,NA19774,NA19775,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19789,NA19795,NA19796,NA19818,NA19828,NA19901,NA19902,NA19904,NA19921,NA20127,NA20128,NA20129,NA20281,NA20289,NA20290,NA20340,NA20349,NA20350,NA20356,NA20358,NA20502,NA20512,NA20517,NA20520,NA20521,NA20525,NA20527,NA20528,NA20539,NA20543,NA20589,NA20754,NA20756,NA20758,NA20760,NA20766,NA20770,NA20774,NA20783,NA20785,NA20786,NA20790,NA20795,NA20796,NA20797,NA20800,NA20803,NA20807,NA20810,NA20813,NA20818,NA20819,NA20826,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20859,NA20861,NA20866,NA20870,NA20871,NA20872,NA20874,NA20875,NA20876,NA20883,NA20885,NA20887,NA20889,NA20891,NA20895,NA20896,NA20898,NA20899,NA20900,NA20904,NA20906,NA20907,NA20908,NA20911,NA21086,NA21089,NA21090,NA21091,NA21094,NA21097,NA21098,NA21101,NA21102,NA21103,NA21106,NA21108,NA21109,NA21112,NA21113,NA21118,NA21123,NA21137,NA21142,NA21143,NA21300,NA21301,NA21302,NA21307,NA21309,NA21352,NA21355,NA21359,NA21361,NA21367,NA21370,NA21371,NA21378,NA21379,NA21381,NA21383,NA21403,NA21404,NA21408,NA21417,NA21418,NA21421,NA21423,NA21435,NA21436,NA21448,NA21453,NA21455,NA21457,NA21473,NA21475,NA21476,NA21479,NA21480,NA21486,NA21487,NA21488,NA21493,NA21494,NA21510,NA21512,NA21514,NA21522,NA21523,NA21527,NA21528,NA21529,NA21578,NA21583,NA21600,NA21601,NA21608,NA21615,NA21617,NA21620,NA21678,NA21685,NA21693,NA21716,NA21717,NA21718,NA21722,NA21739,NA21825 nsv438285 18 36514524 36520198 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470708,nssv470705,nssv470709,nssv470704,nssv470706 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA06994,NA10830,NA10839,NA11993,NA12761 nsv514865 18 36514792 36519324 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628304 S 1414 0 1 "" nsv819432 18 36514913 36519446 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418831,nssv1418853 M 2 0 1 "" AK1 dgv3407n71 18 36519446 36578306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909559,nsv909558 M 6533 0 5 "" IS40657,IS41984,MS10393,MS12837,MS21258 nsv519861 18 36536284 36538715 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694075 S 2026 1 0 "" nsv909560 18 36571408 36845848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574562 S 6533 0 1 "" IS33600 esv2654530 18 36601624 36602545 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311870 S 1 1 0 "" NA18507 esv271795 18 36602126 36602467 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514529,essv2514168,essv2518683,essv2515517,essv2516478,essv2515720,essv2518022,essv2516148,essv2517889,essv2516209,essv2516837,essv2517209,essv2519103,essv2515275,essv2518924,essv2518401,essv2513591 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA12043,NA12045,NA12249,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18970,NA19141,NA19238,NA19239,NA19240 esv274085 18 36602131 36602462 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581904,essv2582478,essv2582916,essv2584197,essv2584507,essv2583816 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1010344 18 36644013 36644022 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568805 S 3 1 0 "" HuRef esv1120198 18 36644023 36644023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750549 S 2 1 0 "" HuRef nsv507869 18 36677876 36683876 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623245 S 4 1 0 "" NA18994 nsv820268 18 36726294 36731203 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419669 S 2 1 0 "" AK1 nsv524224 18 36784354 36791626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700112 S 2026 0 1 "" dgv3408n71 18 36817097 36900357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909561,nsv909562 M 6533 0 4 "" IS31369,IS37065,IS41292,MS23670 nsv2266 18 36831597 36866228 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4317 S 9 1 0 "" NA12878 nsv470417 18 36833775 36876691 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547082 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00606 nsv909563 18 36906373 36952338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572302 S 6533 1 0 "" IS32918 nsv438286 18 36928405 36932801 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470710 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18571 esv271618 18 36940548 36940633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517124,essv2517955,essv2517881,essv2513872,essv2518430,essv2513635 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12872,NA12878,NA19143,NA19240 esv272755 18 36940548 36940633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581489,essv2581245 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv520844 18 36952338 36954862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692608,nssv676323 M 2026 0 2 "" nsv520104 18 36966697 36968599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697225 S 2026 0 1 "" nsv909564 18 36993065 37433254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556223 S 6533 1 0 KC6 MS21863 nsv833629 18 37045938 37213143 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453983,nssv1453982 M 95 2 0 "" nsv833630 18 37071117 37266220 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453984 S 95 0 1 "" nsv510737 18 37114424 37125440 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622733,nssv620108 M 4 0 2 "" NA15510,NA18994 nsv511605 18 37116145 37127830 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626235 S 1 0 1 "" 1 esv1004320 18 37117858 37123000 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563748 S 3 0 1 "" HuRef esv2563993 18 37117873 37122811 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335250 S 1 0 1 "" NA18507 esv2615588 18 37117995 37122818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283667 S 1 0 1 "" NA18507 nsv435695 18 37118402 37124662 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465645 S 2 0 1 "" NA15510 nsv512528 18 37118457 37122651 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625131 S 1 0 1 "" 1 esv1988212 18 37118614 37122527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983883 S 1 0 1 "" NA18507 nsv436245 18 37118653 37122254 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465646 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv4407 18 37118732 37122391 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26848 S 1 0 1 Single Asian sample YH "" YH esv7658 18 37118780 37122343 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30099 S 1 0 1 "" SJK esv29177 18 37118859 37122282 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15796 S 451 8 0 "" NA06985,NA12044,NA12414,NA12749,NA12878,NA19099,NA19225,NA19257 nsv820694 18 37118859 37122282 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419986 S 1 0 1 "" NA10851 nsv514866 18 37120344 37122220 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628305 S 1414 0 1 "" nsv132062 18 37182812 37182939 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150640 M 24 "" esv1363122 18 37182908 37183036 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3682073 S 2 0 1 "" HuRef esv1556573 18 37183746 37183746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852238 S 2 1 0 "" HuRef esv271817 18 37189298 37189623 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536404,essv2570604,essv2550292,essv2547482,essv2534829,essv2539639,essv2528879,essv2553439,essv2566339,essv2557690,essv2534355,essv2573650,essv2543095,essv2525587,essv2526766,essv2530215 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12044,NA12234,NA12717,NA18561,NA18563,NA18579,NA18605,NA18948,NA18953,NA18959,NA18964,NA18965,NA18980,NA19005,NA19141 esv1002655 18 37326767 37326767 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574515 S 3 1 0 KC6 HuRef esv1042508 18 37326768 37326768 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117278 S 2 1 0 KC6 HuRef nsv130773 18 37326769 37326769 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149351 M 24 KC6 nsv2267 18 37377938 37423581 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6754 S 9 0 1 "" NA12156 dgv61n6 18 37397401 37397481 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131506,nsv132151 M 24 "" nsv131559 18 37441996 37442333 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150137 M 24 "" esv1994866 18 37450903 37451316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771456 S 1 0 1 "" NA18507 esv270111 18 37455728 37455866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496565,essv2509069,essv2494441,essv2497889,essv2498844 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18522,NA18572,NA18945,NA19138 nsv909565 18 37511637 37552355 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540338 S 6533 1 0 "" MS14805 esv269556 18 37567471 37567601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493990,essv2497722,essv2497048 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA19147,NA19190 nsv909566 18 37581960 37942450 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556224 S 6533 1 0 PIK3C3 MS21863 esv34808 18 37638400 37686700 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988990,essv6978007 M 771 0 1 "" NA10856 dgv1026e1 18 37638408 37686676 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25133,essv20837,esv1321 M 271 0 0 "" NA10856,NA11829 esv34153 18 37652766 38126263 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 PIK3C3 esv23646 18 37696590 37697631 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18790 S 451 5 0 "" NA18523,NA18907,NA19114,NA19225,NA19257 nsv820562 18 37696590 37697631 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419987 S 1 0 1 "" NA10851 nsv909567 18 37724188 37906937 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540339 S 6533 1 0 PIK3C3 MS14805 nsv2268 18 37741040 37785719 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7384 S 9 0 1 "" NA12156 nsv909568 18 37745871 38022744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548787 S 6533 1 0 PIK3C3 MS17878 nsv507870 18 37786048 37792048 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623246 S 4 1 0 PIK3C3 NA18994 esv1001271 18 37840578 37850607 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564828 S 3 1 0 PIK3C3 HuRef esv2316444 18 37843464 37843851 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588204 S 1 0 1 PIK3C3 NA18507 esv1518239 18 37843673 37843733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951527 S 2 0 1 PIK3C3 HuRef nsv131226 18 37843681 37843740 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149804 M 24 PIK3C3 nsv833631 18 37887501 38078089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453985 S 95 0 1 PIK3C3 nsv909569 18 37969792 38045231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540340 S 6533 1 0 "" MS14805 dgv3409n71 18 37985206 38057819 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909570,nsv909571 M 6533 0 5 "" IS35073,IS36170,IS38344,IS39914,SP55596 nsv525562 18 38003560 38054891 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701701 S 2026 1 0 "" nsv130787 18 38107995 38107995 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149365 M 24 "" esv272618 18 38137006 38137303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579852 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 dgv1027e1 18 38183758 38194401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1077,essv8679,essv8025 M 271 0 0 "" NA18871,NA18912 esv2421962 18 38185537 38191787 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5102942,essv5124037,essv5015916,essv5114140,essv5141713,essv5036079,essv5051861,essv5123578,essv5071232,essv5127347,essv5129391,essv5027851,essv5053296,essv5037372,essv5032128,essv5129129,essv5026174,essv5037415,essv5049552,essv5158520,essv5140814,essv5159923,essv5032744,essv5145552,essv5093282,essv5068262,essv5037940,essv5131200,essv5158028,essv5018470,essv5086707,essv5049603,essv5134428,essv5147349,essv5077447,essv5071502,essv5046115,essv5011345,essv5096853 M 1184 0 39 "" NA11894,NA18484,NA18486,NA18861,NA18863,NA18868,NA18869,NA18871,NA18910,NA18911,NA19096,NA19097,NA19102,NA19103,NA19118,NA19174,NA19176,NA19210,NA19226,NA19248,NA19373,NA19440,NA19651,NA19679,NA19982,NA20277,NA20348,NA21339,NA21365,NA21366,NA21418,NA21451,NA21489,NA21575,NA21617,NA21634,NA21636,NA21685,NA21723 nsv909572 18 38192508 38317998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582754 S 6533 0 1 "" IS36131 nsv828218 18 38197100 38201376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432536 S 31 0 1 "" AK20 nsv511062 18 38284297 38323378 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618628 S 4 0 0 "" CHM nsv909573 18 38304361 38385267 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548788 S 6533 1 0 "" MS17878 nsv471800 18 38307770 38311677 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646081 M 0.064 95 "" esv27751 18 38308078 38311677 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10284 S 451 0 4 "" NA11894,NA11995,NA12828,NA18858 esv2421511 18 38309785 38311765 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142521,essv5078302,essv5044840,essv5090885,essv5089952,essv5074378,essv5016585,essv5003133,essv5042187,essv5049671,essv5038253,essv5111364,essv5123613,essv5139830,essv5017714,essv5012328,essv5043859,essv5130875,essv5013651,essv5090514,essv5072258,essv5126024,essv5086334,essv5088465,essv5080313,essv5134634,essv5003244,essv5102208,essv5015419,essv5079643,essv5137120,essv5008178,essv5025683,essv5100743,essv5007024,essv5079187,essv5084710,essv5109162,essv5020300,essv5096983,essv5088184,essv5128729,essv5134995,essv5088685,essv5156168,essv5069496,essv5132056,essv5055616,essv5093378,essv5096422,essv5044874,essv5087655,essv5092020,essv5155107,essv5012351,essv5031385,essv5065328,essv5153849,essv5089192,essv5050866,essv5047630,essv5091218,essv5019812,essv5045921,essv5040902,essv5066043,essv5152032,essv5048647,essv5156488,essv5104775,essv5081310,essv5018649,essv5043532,essv5004316,essv5048006,essv5076252,essv5057446,essv5060811,essv5153389,essv5110594,essv5011799,essv5059321,essv5059197,essv5029218,essv5110127,essv5025217,essv5026064,essv5160205 M 1184 0 88 "" NA10856,NA10861,NA10863,NA11829,NA11839,NA11840,NA11881,NA11894,NA11995,NA12234,NA12273,NA12283,NA12335,NA12340,NA12383,NA12753,NA12762,NA12767,NA12777,NA12778,NA12818,NA12828,NA12830,NA18858,NA18860,NA19138,NA19139,NA19374,NA19430,NA19434,NA19446,NA19452,NA19468,NA19661,NA19675,NA19678,NA19680,NA19685,NA19686,NA19749,NA19770,NA19772,NA19774,NA19775,NA19776,NA19780,NA19781,NA19789,NA19818,NA19828,NA19921,NA20289,NA20300,NA20341,NA20516,NA20525,NA20529,NA20538,NA20540,NA20542,NA20586,NA20752,NA20755,NA20760,NA20766,NA20783,NA20787,NA20795,NA20797,NA20803,NA20805,NA20816,NA20818,NA20885,NA20892,NA20902,NA21086,NA21123,NA21333,NA21336,NA21371,NA21436,NA21512,NA21519,NA21526,NA21578,NA21648,NA21686 nsv817790 18 38309785 38312891 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415920 S 112 1 0 "" NA11995 nsv514867 18 38310408 38311728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628306 S 1414 0 1 "" nsv442751 18 38310567 38311469 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv525717 18 38436604 38439784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701880 S 2026 0 1 "" nsv833632 18 38441677 38642056 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453987,nssv1453986 M 95 0 2 RIT2 nsv2269 18 38684928 38729716 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7385 S 9 0 1 RIT2 NA12156 dgv3410n71 18 38694607 38747498 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909575,nsv909574 M 6533 0 4 RIT2 IS34440,IS35179,IS35789,MS22798 nsv470418 18 38720755 38747499 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547083 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RIT2 HGDP01091 nsv519875 18 38725419 38725876 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672212,nssv684713,nssv659267,nssv689358 M 2026 4 0 RIT2 nsv458058 18 38732647 38770526 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535110 S 1557 0 1 RIT2 1780854464_A nsv522338 18 38740689 38742277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695118 S 2026 0 1 RIT2 nsv526691 18 38742277 38747498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703027 S 2026 0 1 RIT2 nsv458059 18 38747498 38774646 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535111 S 1557 0 1 RIT2 NINDS_234 nsv458060 18 38747498 38786750 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535112 S 1557 0 1 RIT2 1780854118_A nsv833633 18 38812562 38977743 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453988 S 95 1 0 RIT2 esv990550 18 38814496 38815066 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563690 S 3 1 0 RIT2 HuRef nsv131143 18 38891779 38899181 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149721 M 24 RIT2 nsv817791 18 39006193 39042339 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418520 S 112 0 1 "" NA19193 nsv514868 18 39135056 39157016 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628307 S 1414 0 0 "" nsv442437 18 39135060 39157329 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421793 18 39135064 39157329 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5037968,essv5074452,essv5116314,essv5069045,essv5040618,essv5096268,essv5051476,essv5083138,essv5011905,essv5032846,essv5160845,essv5124350,essv5063887,essv5145395,essv5090702,essv5069279,essv5139585,essv5090009 M 1184 0 18 "" NA19121,NA19171,NA19317,NA19318,NA19347,NA19352,NA19456,NA19463,NA19723,NA20127,NA20287,NA21387,NA21388,NA21389,NA21479,NA21485,NA21574,NA21575 nsv520105 18 39138987 39154512 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678619,nssv660784,nssv661201 M 2026 0 3 "" nsv833634 18 39217319 39387116 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453989 S 95 1 0 "" nsv909576 18 39256773 39409804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555432 S 6533 0 1 "" MS21325 nsv909577 18 39265343 39359461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596865 S 6533 0 1 "" IS40657 nsv909578 18 39279828 39401490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548789 S 6533 1 0 "" MS17878 nsv512529 18 39283536 39286729 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625133 S 1 0 1 "" 1 esv2647032 18 39285052 39287446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195289 S 1 0 1 "" NA18507 esv2249658 18 39285347 39286716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499863 S 1 0 1 "" NA18507 esv2923 18 39285497 39286599 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25364 S 1 0 1 Single Asian sample YH "" YH esv6190 18 39285539 39286532 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28631 S 1 0 1 "" SJK nsv130587 18 39285551 39286534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149165 M 24 "" esv26969 18 39370887 39372174 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10295 S 451 0 1 "" NA12044 nsv526201 18 39399573 39409804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702464 S 2026 0 1 "" nsv909579 18 39524670 39676449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525604,nssv1551684 M 6533 0 2 "" MS18976,SP56728 esv1086935 18 39533277 39533365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358936 S 2 0 1 "" HuRef nsv2270 18 39556837 39586780 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4318,nssv10154,nssv9974,nssv7386 M 9 4 0 "" NA12156,NA12878,NA18507,NA18956 nsv833635 18 39564898 39769424 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453990 S 95 1 0 "" nsv511063 18 39567899 39583141 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618677 S 4 0 0 "" CHM esv270458 18 39627791 39628169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494151,essv2501410 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19093 esv1672779 18 39635569 39635619 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4277573 S 2 0 1 "" HuRef nsv909580 18 39703741 39841548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536005 S 6533 1 0 "" MS12577 esv2072180 18 39707252 39707800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694652 S 1 0 1 "" NA18507 nsv131517 18 39707426 39707753 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150095 M 24 "" esv997970 18 39707430 39707757 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580319 S 3 0 1 "" HuRef esv1533434 18 39707448 39707776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691713 S 2 0 1 "" HuRef nsv909581 18 39753985 39806389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514882 S 6533 0 1 "" SP56089 nsv909582 18 39772726 39977856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548790 S 6533 1 0 "" MS17878 nsv520200 18 39811560 39841548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661678,nssv663074,nssv684643 M 2026 0 3 "" esv269063 18 39838398 39838851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507573 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18638 nsv909583 18 39897824 40011337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534175 S 6533 0 1 "" MS11467 esv2429977 18 39912103 39914723 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213131 S 1 0 1 "" NA18507 nsv510738 18 40012093 40017770 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620109 S 4 0 1 "" NA15510 esv2421372 18 40019676 40030578 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5108648,essv5020199,essv5150854,essv5081249,essv5128365,essv5147186,essv5005876,essv5097269,essv5148850,essv5008728,essv5030761,essv5137870,essv5032794,essv5025068,essv5126187,essv5038341 M 1184 0 16 "" NA07022,NA07051,NA10836,NA12375,NA12753,NA12762,NA12767,NA12777,NA19700,NA19722,NA19724,NA19779,NA20761,NA20859,NA20889,NA20910 nsv514869 18 40019712 40030112 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628308 S 1414 0 1 "" nsv442438 18 40019717 40030582 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv2271 18 40042830 40087578 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7387 S 9 0 1 "" NA12156 esv272598 18 40074984 40075295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580195,essv2579988,essv2580546,essv2579302,essv2579811 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv271436 18 40075002 40075105 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571841,essv2544017,essv2570677,essv2576768,essv2550691,essv2525233,essv2552161,essv2558334,essv2564141,essv2528340,essv2553090,essv2538177,essv2559885,essv2568055,essv2541479,essv2572456,essv2573238,essv2533600 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11992,NA12044,NA12154,NA12155,NA12156,NA12489,NA12750,NA12828,NA12891,NA18542,NA18547,NA18570,NA18577,NA18592,NA18609,NA18942,NA18944 esv269841 18 40121662 40121747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518462 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv2283650 18 40140612 40140992 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790220 S 1 0 1 "" NA18507 esv1012148 18 40140664 40140799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293450 S 2 0 1 "" HuRef esv1095034 18 40196002 40196002 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248032 S 2 1 0 "" HuRef nsv510878 18 40215209 40243938 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618629 S 4 0 0 "" CHM esv2562658 18 40229833 40236604 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385985 S 1 0 1 "" NA18507 nsv435690 18 40230125 40236659 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465647 S 2 0 1 "" NA15510 esv2307139 18 40230516 40236265 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666098 S 1 0 1 "" NA18507 esv29513 18 40230687 40236035 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15247 S 451 0 4 "" NA12239,NA15510,NA18858,NA19129 esv33651 18 40230856 40235930 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98868,essv98217 M 51 2 0 "" 21606,21772 esv2421930 18 40230884 40232624 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067944,essv5029585,essv5046925,essv5013631,essv5113573,essv5045877,essv5056743,essv5144280,essv5090633,essv5034061,essv5037406,essv5079426,essv5096518,essv5006819,essv5109978,essv5113848,essv5114378,essv5057591,essv5057798,essv5043196,essv5072318,essv5105422,essv5145824,essv5107591,essv5066804,essv5075165,essv5140368,essv5141585,essv5149450,essv5047125,essv5023652,essv5055844,essv5137356,essv5032387,essv5007836,essv5157818,essv5054278,essv5156882,essv5100451,essv5107204,essv5030448,essv5071384,essv5044776,essv5152571,essv5127483,essv5158886,essv5121746,essv5099950,essv5146724,essv5148440,essv5124306,essv5081681,essv5099618,essv5117423,essv5132081,essv5017595,essv5137370,essv5112998,essv5083141,essv5013718,essv5127529,essv5015227,essv5054764,essv5072236,essv5023628,essv5082325,essv5115471,essv5038261,essv5048346,essv5109588,essv5126922,essv5128769,essv5156223,essv5101410,essv5157185,essv5117764,essv5032334 M 1184 0 77 "" NA07000,NA07029,NA07346,NA10863,NA12264,NA12375,NA12751,NA18488,NA18507,NA18516,NA18858,NA18860,NA18910,NA18911,NA18960,NA19031,NA19093,NA19094,NA19107,NA19117,NA19122,NA19123,NA19127,NA19129,NA19174,NA19179,NA19182,NA19189,NA19191,NA19193,NA19311,NA19316,NA19390,NA19429,NA19443,NA19462,NA19469,NA19470,NA19471,NA19761,NA19819,NA19834,NA19901,NA19917,NA19918,NA19921,NA20129,NA20279,NA20281,NA20282,NA20284,NA20302,NA20334,NA20341,NA20359,NA20360,NA20541,NA20582,NA20783,NA20847,NA20849,NA20851,NA20872,NA20879,NA20881,NA20884,NA20885,NA21141,NA21357,NA21362,NA21447,NA21509,NA21517,NA21576,NA21597,NA21719,NA21784 nsv442439 18 40230885 40232624 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514870 18 40230952 40232488 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628309 S 1414 0 1 "" esv2641689 18 40231515 40235824 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298004 S 1 0 1 "" NA18507 nsv131047 18 40378242 40378299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149625 M 24 "" nsv909584 18 40464806 40562970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564158 S 6533 0 1 SETBP1 IS30171 nsv2272 18 40512479 40557301 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7388 S 9 0 1 SETBP1 NA12156 nsv828220 18 40512572 40514636 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426222 S 31 1 0 SETBP1 AK4 esv272827 18 40554060 40554145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581525 S 7 1 0 Samples from several populations that are part of the HapMap project. SETBP1 NA12878 esv1008653 18 40555904 40555904 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569922 S 3 1 0 SETBP1 HuRef nsv2273 18 40637227 40682845 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6755 S 9 0 1 SETBP1 NA12156 nsv833637 18 40684297 40838877 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453991 S 95 1 0 MIR4319,SETBP1 esv1005718 18 40688769 40700119 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564555 S 3 0 1 SETBP1 HuRef nsv2274 18 40709695 40743866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7389 S 9 1 0 SETBP1 NA12156 nsv909585 18 40768446 40858407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548791 S 6533 1 0 MIR4319,SETBP1 MS17878 esv22280 18 40878660 40880045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15316,esv11079 M 451 0 2 SETBP1 NA18916,NA19190 nsv523324 18 40977527 40985990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699067 S 2026 0 1 "" nsv525268 18 41002363 41728793 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701368 S 2026 1 0 EPG5,SIGLEC15,SLC14A1,SLC14A2 nsv512530 18 41069186 41070673 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625134 S 1 0 1 SLC14A2 1 esv2457646 18 41069544 41070993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348791 S 1 0 1 SLC14A2 NA18507 esv1664752 18 41070240 41070298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844563 S 2 0 1 SLC14A2 HuRef nsv523238 18 41077512 41102316 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698965 S 2026 1 0 SLC14A2 esv2593617 18 41091348 41093361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350967 S 1 0 1 SLC14A2 NA18507 esv2393030 18 41091909 41093011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981949 S 1 0 1 SLC14A2 NA18507 nsv828221 18 41092058 41092790 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427924,nssv1440720,nssv1431717 M 31 0 3 SLC14A2 AK18,AK8,NA18564 nsv132183 18 41092106 41092807 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150761 M 24 SLC14A2 esv28429 18 41092113 41092725 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16166 S 451 0 11 SLC14A2 NA07045,NA12156,NA12239,NA12749,NA18508,NA18907,NA18909,NA19099,NA19129,NA19147,NA19240 nsv833638 18 41138027 41328931 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453992 S 95 1 0 SLC14A2 esv26245 18 41267409 41268200 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12162 S 451 0 4 SLC14A2 NA11995,NA18861,NA19099,NA19147 esv275024 18 41300813 41303870 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585810,essv2585706 M 1250 1 1 SLC14A2 nsv2275 18 41306259 41350899 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7390 S 9 0 1 SLC14A2 NA12156 nsv518479 18 41342636 41346378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695916 S 2026 0 1 SLC14A2 nsv909586 18 41458846 41567307 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548792 S 6533 1 0 SLC14A1,SLC14A2 MS17878 esv991584 18 41512838 41519439 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564975 S 3 0 1 SLC14A2 HuRef esv2508453 18 41514610 41515965 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310904 S 1 0 1 SLC14A2 NA18507 esv2073991 18 41514826 41515519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774333 S 1 0 1 SLC14A2 NA18507 esv3150 18 41514953 41515404 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25591 S 1 0 1 Single Asian sample YH SLC14A2 YH esv988746 18 41515006 41515330 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567718 S 3 0 1 SLC14A2 HuRef esv1524268 18 41515012 41515337 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839882 S 2 0 1 SLC14A2 HuRef esv8679 18 41515014 41515326 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31120 S 1 0 1 SLC14A2 SJK nsv909587 18 41523123 41587524 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538467 S 6533 1 0 SLC14A1 MS13727 nsv131040 18 41599200 41599279 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149618 M 24 "" nsv909588 18 41728793 41808369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548793 S 6533 1 0 EPG5 MS17878 nsv2277 18 41797713 41842577 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7391 S 9 0 1 EPG5,PSTPIP2 NA12156 nsv817792 18 41810950 41815236 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417790 S 112 1 0 "" NA12234 dgv549n67 18 41930774 41931870 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828222,nsv828223 M 31 0 3 ATP5A1 AK10,NA18949,NA18997 esv1334297 18 41946804 41946804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710702 S 2 1 0 HAUS1 HuRef nsv131594 18 41977382 41977533 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150172 M 24 "" esv2537008 18 42003835 42005569 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365278 S 1 0 1 "" NA18507 esv273961 18 42038302 42038530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579337 S 7 1 0 Samples from several populations that are part of the HapMap project. C18orf25 NA19239 nsv2278 18 42095727 42130286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4319 S 9 1 0 C18orf25 NA12878 nsv828224 18 42167678 42169861 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426223 S 31 1 0 RNF165 AK4 esv22561 18 42167703 42168288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18303 S 451 0 1 RNF165 NA12489 esv24686 18 42231081 42232886 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14178 S 451 0 1 RNF165 NA18907 nsv2279 18 42246802 42279626 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6756 S 9 1 0 RNF165 NA12156 nsv428355 18 42414179 42660283 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453590 S 62 1 0 LOXHD1,PIAS2,ST8SIA5 NA19147 esv259974 18 42476782 42518038 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397994 S 144 0 0 Samples from several populations that are part of the HapMap project. LOXHD1,ST8SIA5 NA19147 esv25184 18 42476958 42517855 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15009 S 451 1 0 LOXHD1,ST8SIA5 NA19147 nsv515609 18 42477363 42517235 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655588,nssv664081 M 2026 2 0 LOXHD1,ST8SIA5 nsv9629 18 42518691 43011509 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26273,nssv27327,nssv21280,nssv27302,nssv27322,nssv25435,nssv27599,nssv24472,nssv28412,nssv23566,nssv23836,nssv24531,nssv24444,nssv25767,nssv26668,nssv27135 M 31 6 10 Samples from several populations that are part of the HapMap project. HDHD2,IER3IP1,KATNAL2,LOC100506888,PIAS2,ST8SIA5,TCEB3B,TCEB3C,TCEB3CL NA07029,NA12155,NA12802,NA18502,NA18517,NA18552,NA18564,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv3411n71 18 42533890 42586909 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909589,nsv909590 M 6533 4 0 ST8SIA5 IS32651,IS34381,IS37752,IS40752 dgv3412n71 18 42533890 42654619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909600,nsv909597,nsv909601,nsv909591,nsv909592,nsv909594,nsv909593,nsv909599 M 6533 14 0 PIAS2,ST8SIA5 IS31090,IS33129,IS33812,IS34055,IS37068,IS38092,IS38242,IS38348,IS38421,IS39113,IS39526,IS40247,IS40520,IS40812 dgv3413n71 18 42533890 42676659 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909598,nsv909595,nsv909602 M 6533 12 0 PIAS2,ST8SIA5 IS31081,IS31118,IS33140,IS33351,IS34872,IS34931,IS35637,IS36046,IS37450,IS40662,IS41831,IS41992 dgv3414n71 18 42545417 42589722 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909603,nsv909596 M 6533 3 0 ST8SIA5 IS34092,IS35554,IS36973 nsv909604 18 42554279 42624516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591784 S 6533 1 0 ST8SIA5 IS39011 nsv509692 18 42559691 42607587 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621049 S 4 1 0 ST8SIA5 NA15510 dgv3415n71 18 42570717 42676659 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909607,nsv909605,nsv909606,nsv909608 M 6533 5 0 PIAS2,ST8SIA5 IS30407,IS34809,IS40296,IS40558,IS41292 esv2647235 18 42592094 42593550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216545 S 1 0 1 "" NA18507 esv2222754 18 42592227 42592944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907904 S 1 0 1 "" NA18507 esv4591 18 42592378 42592866 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27032 S 1 0 1 Single Asian sample YH "" YH esv992851 18 42592420 42592756 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579010 S 3 0 1 "" HuRef esv7085 18 42592421 42592751 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29526 S 1 0 1 "" SJK esv1391446 18 42592431 42592768 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065776 S 2 0 1 "" HuRef nsv130571 18 42592432 42592768 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149149 M 24 "" nsv833639 18 42680361 42806717 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1453997,nssv1453998,nssv1453996,nssv1453995,nssv1453994,nssv1453993 M 95 0 6 KATNAL2,LOC100506888,PIAS2,TCEB3C,TCEB3CL esv999328 18 42685000 42692660 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565688 S 3 0 1 PIAS2 HuRef nsv522397 18 42705642 42770086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695177 S 2026 0 1 PIAS2 nsv909609 18 42767069 42851090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590043 S 6533 0 1 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL IS38448 nsv509693 18 42775967 42828249 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619727,nssv621050,nssv623733 M 4 3 0 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL NA10860,NA15510,NA18994 nsv821062 18 42795752 42811370 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419988 S 1 1 0 KATNAL2,LOC100506888,TCEB3C,TCEB3CL NA10851 esv29643 18 42795906 42811898 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14271,esv17377 M 451 16 10 KATNAL2,LOC100506888,TCEB3C,TCEB3CL NA06985,NA07037,NA11894,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19190,NA19240,NA19257 nsv2280 18 42798587 42799404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5696,nssv4321 M 9 2 0 KATNAL2,LOC100506888 NA12878,NA19129 nsv2281 18 42799442 42801648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2194,nssv1403,nssv6757 M 9 3 0 KATNAL2 NA12156,NA18555,NA19240 nsv514871 18 42800004 42816252 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627188 S 1414 0 0 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL nsv2282 18 42801636 42844331 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4322 S 9 0 1 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL NA12878 nsv2283 18 42801793 42803759 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6758,nssv5697 M 9 2 0 KATNAL2,LOC100506888,TCEB3C,TCEB3CL NA12156,NA19129 dgv3416n71 18 42803453 42868088 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909611,nsv909610 M 6533 2 0 KATNAL2,LOC100506888,TCEB3B,TCEB3C,TCEB3CL MS12791,MS17689 nsv167 18 42804836 42806019 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv167 S 1 1 0 KATNAL2 NA15510 nsv2284 18 42804836 42824029 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10155,nssv9851,nssv5698,nssv10986,nssv6760,nssv9976,nssv10157,nssv4323,nssv9975,nssv1404,nssv5699,nssv9328,nssv10156,nssv2195,nssv6759,nssv9549 M 9 9 0 KATNAL2,TCEB3B,TCEB3C,TCEB3CL NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv833640 18 42806274 42968870 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454000,nssv1453999,nssv1454003,nssv1454001,nssv1454002,nssv1454004,nssv1454007,nssv1454008,nssv1454006,nssv1454005,nssv1454009 M 95 0 11 HDHD2,IER3IP1,KATNAL2,TCEB3B,TCEB3C,TCEB3CL nsv471406 18 42808571 42810447 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548188,nssv548187,nssv548186 M 3 KATNAL2,TCEB3C,TCEB3CL nsv828225 18 42813047 42814162 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427135 S 31 1 0 KATNAL2,TCEB3B AK6 esv998188 18 42813110 42814264 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586863 S 3 1 0 KATNAL2,TCEB3B HuRef nsv909612 18 42814873 42935483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521760 S 6533 1 0 HDHD2,IER3IP1,KATNAL2,TCEB3B SP52571 esv271855 18 42895851 42896092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508779,essv2499280,essv2501575,essv2507561,essv2511640,essv2503710,essv2505617,essv2493544,essv2499555 M 157 9 0 Samples from several populations that are part of the HapMap project. HDHD2 NA07357,NA18532,NA18605,NA18608,NA18638,NA18940,NA18960,NA19005,NA19137 nsv909613 18 42898528 42944105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514923 S 6533 0 1 HDHD2,IER3IP1 SP56096 esv2330479 18 42968962 42969434 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678147 S 1 0 1 "" NA18507 esv1525134 18 42969164 42969241 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795127 S 2 0 1 "" HuRef nsv510453 18 42996053 43002053 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618436,nssv622277 M 4 0 2 "" CHM,NA10860 nsv828226 18 43016012 43055194 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430430 S 31 1 0 "" NA18968 esv22148 18 43028048 43029628 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20807 S 451 0 1 "" NA12749 nsv833641 18 43069061 43274200 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454010,nssv1454011 M 95 2 0 "" esv270371 18 43082643 43082971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552437,essv2569256,essv2568963,essv2526626,essv2574548,essv2530193,essv2546055,essv2574330 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18508,NA18861,NA19114,NA19138,NA19141,NA19239,NA19240 esv274319 18 43082649 43082990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580292 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv269301 18 43178699 43178998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510162,essv2504453,essv2502569,essv2500447,essv2497263,essv2494600,essv2497119,essv2497769,essv2507888,essv2512841,essv2511653 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11993,NA12750,NA18537,NA18545,NA18550,NA18552,NA18555,NA18564,NA18609,NA18940 esv28213 18 43179358 43183857 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21357,esv16703 M 451 1 10 "" NA11931,NA11993,NA12006,NA12044,NA12414,NA18502,NA18517,NA18861,NA19129,NA19190,NA19225 nsv820911 18 43180636 43183857 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419989 S 1 0 1 "" NA10851 esv1535101 18 43181096 43181263 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889296 S 2 0 1 "" HuRef esv1303557 18 43181271 43181897 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652722 S 2 0 1 "" HuRef esv1015109 18 43182064 43182148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118945 S 2 0 1 "" HuRef nsv512531 18 43182084 43183949 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625135 S 1 0 1 "" 1 esv1578584 18 43182231 43182315 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3898710 S 2 0 1 "" HuRef esv1548845 18 43182594 43182970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685437 S 2 0 1 "" HuRef nsv510454 18 43221901 43227901 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624193,nssv622278,nssv621453 M 4 0 3 "" NA10860,NA15510,NA18994 nsv517425 18 43237379 43252022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694123,nssv651982,nssv653139 M 2026 0 3 "" nsv521709 18 43249174 43255771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698333 S 2026 0 1 "" nsv2285 18 43286688 43320721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7393 S 9 1 0 "" NA12156 esv25102 18 43349292 43350083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15393 S 451 0 3 "" NA18505,NA18858,NA18916 nsv513495 18 43380669 43381763 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625904 S 1 1 0 "" 1 esv2592662 18 43380716 43381310 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375865 S 1 1 0 "" NA18507 nsv2286 18 43435895 43480626 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7394 S 9 0 1 "" NA12156 esv269574 18 43486730 43487017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494233,essv2501189,essv2506432,essv2498919,essv2497639 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18516,NA19108,NA19138,NA19147 esv1008833 18 43553370 43558139 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564101 S 3 0 1 "" HuRef nsv132205 18 43630559 43631027 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150783 M 24 SMAD2 esv1323042 18 43630957 43630957 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006743 S 2 1 0 SMAD2 HuRef esv2627568 18 43632623 43634155 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268640 S 1 0 1 SMAD2 NA18507 nsv909614 18 43673419 43732488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513981 S 6533 0 1 SMAD2 SP55878 nsv2288 18 43693020 43695188 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7395 S 9 1 0 SMAD2 NA12156 nsv909615 18 43706319 43747024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501651 S 6533 0 1 SMAD2 SP50725 nsv909616 18 43721804 44098498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544863 S 6533 1 0 ZBTB7C MS16558 esv274948 18 43806288 43811860 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585580 S 1250 0 1 ZBTB7C nsv2289 18 43823075 43857457 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1405 S 9 1 0 ZBTB7C NA19240 esv1002707 18 43857721 43867178 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564173 S 3 0 1 ZBTB7C HuRef esv2313973 18 43870872 43871302 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937323 S 1 0 1 ZBTB7C NA18507 nsv517835 18 43926938 43932477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695239 S 2026 0 1 "" nsv909617 18 43956058 44003903 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548794 S 6533 1 0 "" MS17878 esv28299 18 43990994 43993426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16676 S 451 0 1 "" NA19108 esv23129 18 44000666 44002512 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14735 S 451 0 1 "" NA12828 esv2163987 18 44001585 44002039 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747251 S 1 0 1 "" NA18507 nsv527397 18 44053782 44059600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703832 S 2026 0 1 "" esv2162921 18 44069734 44070162 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804078 S 1 0 1 "" NA18507 esv267587 18 44091900 44092004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509673,essv2494927,essv2503259,essv2497802,essv2507172,essv2497428,essv2502693,essv2499161 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18520,NA18542,NA18555,NA18870,NA18959,NA18965,NA19114 esv269073 18 44171871 44172191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494334,essv2496495,essv2506214,essv2504828,essv2493560,essv2497489,essv2499714,essv2501753,essv2498222 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18523,NA19099,NA19137,NA19147,NA19225,NA19239,NA19240 esv272424 18 44171880 44172216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584577,essv2583403 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv909618 18 44225137 44295753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544864 S 6533 1 0 "" MS16558 nsv833642 18 44230305 44475049 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454012 S 95 1 0 CTIF,MIR4743 esv2534902 18 44249635 44251224 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297429 S 1 0 1 "" NA18507 esv2206839 18 44249935 44250658 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674678 S 1 0 1 "" NA18507 esv5369 18 44250121 44250589 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27810 S 1 0 1 Single Asian sample YH "" YH dgv63n6 18 44250142 44250477 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv130828,nsv131499 M 24 "" esv1010325 18 44250150 44250466 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573299 S 3 0 1 "" HuRef esv9647 18 44250151 44250454 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32088 S 1 0 1 "" SJK esv1465537 18 44250160 44250477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985868 S 2 0 1 "" HuRef esv23412 18 44293613 44294592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14467 S 451 0 1 "" NA18858 nsv833643 18 44395723 44551598 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454013 S 95 1 0 CTIF,MIR4743 esv2253454 18 44413179 44413607 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932429 S 1 0 1 CTIF NA18507 esv5388 18 44413287 44413475 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27829 S 1 0 1 Single Asian sample YH CTIF YH nsv471801 18 44413298 44413438 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646082 M 2.680 95 CTIF nsv458065 18 44417970 44444719 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535113 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTIF HGDP00862 nsv517984 18 44418885 44422574 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695397 S 2026 0 1 CTIF nsv909619 18 44424898 44470411 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547736 S 6533 1 0 CTIF,MIR4743 MS17529 nsv2290 18 44433552 44438066 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10158 S 9 1 0 CTIF NA18956 nsv2291 18 44439982 44466028 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7396,nssv5700,nssv2981 M 9 3 0 CTIF,MIR4743 NA12156,NA18555,NA19129 nsv509694 18 44440518 44467421 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619728,nssv623734,nssv618127 M 4 3 0 CTIF,MIR4743 CHM,NA10860,NA18994 esv1009332 18 44452304 44453275 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565189 S 3 1 0 CTIF HuRef esv1253863 18 44452353 44452353 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778760 S 2 1 0 CTIF HuRef nsv909620 18 44501421 44633624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544865 S 6533 1 0 CTIF MS16558 esv1745659 18 44510862 44510970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744547 S 2 0 1 CTIF HuRef nsv909621 18 44537910 44597664 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548795 S 6533 1 0 CTIF MS17878 esv1006969 18 44538050 44550340 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565476 S 3 0 1 CTIF HuRef esv33629 18 44546730 44547663 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98799,essv100767 M 51 2 0 CTIF 21606,21656 nsv833644 18 44549759 44723913 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454014 S 95 1 0 CTIF,SMAD7 esv992593 18 44552838 44552838 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574995 S 3 1 0 CTIF HuRef esv1435704 18 44552892 44552892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774405 S 2 1 0 CTIF HuRef nsv521210 18 44566578 44568382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697847 S 2026 0 1 CTIF esv1976211 18 44587746 44588124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906856 S 1 0 1 CTIF NA18507 nsv130701 18 44587864 44587969 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149279 M 24 CTIF nsv515638 18 44587919 44597664 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666126,nssv675830,nssv656074,nssv664198,nssv699334,nssv691452 M 2026 3 3 CTIF nsv458066 18 44594688 44613022 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535114 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTIF HGDP00859 nsv525699 18 44597664 44601203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701859 S 2026 0 1 CTIF nsv510739 18 44608951 44691272 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618955 S 4 0 1 CTIF NA10860 esv988938 18 44629652 44635589 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564544 S 3 0 1 CTIF HuRef nsv438287 18 44634522 44638410 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470711,nssv470712 M 269 0 2 Samples from several populations that are part of the HapMap project. CTIF NA18944,NA18947 nsv909622 18 44636557 44694487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543758 S 6533 0 1 CTIF MS16153 nsv819050 18 44641350 44642524 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419189 S 2 1 0 CTIF AK1 nsv821393 18 44650134 44650859 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419990 S 1 1 0 "" NA10851 esv28961 18 44650134 44651739 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16872,esv18633 M 451 0 5 "" NA12414,NA18505,NA19129,NA19190,NA19240 esv2167037 18 44650192 44650749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827957 S 1 0 1 "" NA18507 esv1003791 18 44650374 44650455 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584420 S 3 0 1 "" HuRef esv1655415 18 44650374 44650456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793727 S 2 0 1 "" HuRef nsv833645 18 44703045 44816161 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454015 S 95 0 1 SMAD7 nsv909623 18 44765784 44812287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546976 S 6533 0 1 "" MS17208 esv268906 18 44777805 44777965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511434,essv2495276,essv2504408,essv2507972,essv2502337,essv2500179,essv2499494,essv2501694,essv2502884,essv2495374,essv2510335,essv2508531,essv2508366,essv2502598,essv2503776,essv2508840,essv2500260,essv2502790,essv2509927,essv2496579,essv2500035,essv2507834,essv2506350,essv2511297,essv2500685,essv2512848,essv2504935,essv2503091,essv2512277,essv2505469,essv2495225,essv2512816,essv2505607,essv2504742,essv2498780,essv2512162,essv2498099 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA11992,NA11993,NA12003,NA12004,NA12006,NA12044,NA12144,NA12156,NA12287,NA12414,NA12717,NA12749,NA12750,NA12761,NA12878,NA12891,NA12892,NA18508,NA18510,NA18558,NA18564,NA18566,NA18570,NA18571,NA18609,NA18942,NA18943,NA18949,NA18952,NA18964,NA18980,NA19005,NA19099,NA19138,NA19238,NA19240 esv273335 18 44777807 44777965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579295 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv995463 18 44777843 44777843 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568284 S 3 1 0 "" HuRef esv1117578 18 44777844 44777844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010502 S 2 1 0 "" HuRef nsv2292 18 44783737 44829241 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6761 S 9 0 1 DYM NA12156 nsv833646 18 44791561 44965941 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454016,nssv1454018,nssv1454017,nssv1454021,nssv1454020,nssv1454019 M 95 6 0 DYM,MIR4744 nsv909624 18 44805862 44834265 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548796 S 6533 1 0 DYM,MIR4744 MS17878 nsv458067 18 44841652 44904435 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535115 S 1557 0 1 DYM NINDS_119 esv2543335 18 44847709 44848286 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333377 S 1 1 0 DYM NA18507 esv1452367 18 44847795 44847795 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032066 S 2 1 0 DYM HuRef esv1577618 18 44847815 44847815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886133 S 2 1 0 DYM HuRef nsv909625 18 44856962 45004421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526560 S 6533 0 1 DYM SP57659 nsv833649 18 44890646 45068650 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454022 S 95 0 1 DYM nsv458068 18 44921110 44971794 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535116 S 1557 0 1 DYM 1782681099_A nsv520341 18 44931183 44933897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663075,nssv672264 M 2026 0 2 DYM nsv522529 18 44931183 44974759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705901 S 2026 0 1 DYM nsv828227 18 44960690 45007005 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435510 S 31 0 1 DYM NA18942 nsv2293 18 44980965 45011785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1406 S 9 1 0 DYM NA19240 nsv522553 18 45024096 45178143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705934 S 2026 0 1 DYM esv1022137 18 45221198 45221198 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160745 S 2 1 0 DYM HuRef esv1556786 18 45221232 45221232 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056938 S 2 1 0 DYM HuRef nsv2294 18 45251209 45272914 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1407 S 9 0 1 C18orf32,MIR1539,RPL17,RPL17-C18ORF32,SNORD58A,SNORD58B,SNORD58C NA19240 nsv498879 18 45251696 45259315 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585740 S 9 0 1 "" nsv442752 18 45251724 45257350 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28872 18 45251740 45259314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18992 S 451 0 5 "" NA18858,NA18916,NA19147,NA19240,NA19257 nsv514872 18 45253260 45259296 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628310 S 1414 0 1 "" nsv2295 18 45265141 45266966 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7397 S 9 1 0 C18orf32,RPL17-C18ORF32 NA12156 esv2606664 18 45273317 45274581 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359470 S 1 0 1 "" NA18507 esv2079160 18 45273666 45274365 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950873 S 1 0 1 "" NA18507 esv4354 18 45273819 45274303 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26795 S 1 0 1 Single Asian sample YH "" YH dgv64n6 18 45273850 45274188 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131478,nsv130925 M 24 "" nsv521322 18 45278511 45284250 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697929 S 2026 1 0 "" nsv438288 18 45356000 45371907 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470713,nssv470714 M 269 0 2 Samples from several populations that are part of the HapMap project. LIPG NA18944,NA18947 esv1216550 18 45357982 45358307 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887351 S 2 0 1 LIPG HuRef esv2604136 18 45400835 45401811 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225824 S 1 1 0 "" NA18507 nsv828228 18 45414116 45417253 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437841 S 31 0 1 "" NA18949 nsv516143 18 45415626 45415731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672109,nssv666454,nssv667319 M 2026 0 3 "" nsv458069 18 45426728 45472119 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535117 S 1557 1 0 "" 1782681329_A nsv909626 18 45449950 45503295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548797 S 6533 1 0 "" MS17878 nsv510455 18 45456624 45462624 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624194 S 4 0 1 "" NA18994 nsv513497 18 45541553 45541692 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625907 S 1 1 0 "" 1 nsv516056 18 45548880 45619003 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665900,nssv685664,nssv663647,nssv680967 M 2026 4 0 ACAA2,MYO5B,SCARNA17 nsv828229 18 45604178 45605841 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432537 S 31 1 0 MYO5B AK20 nsv516786 18 45648393 45648536 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663373,nssv696295,nssv670836,nssv655992 M 2026 3 1 MYO5B esv1004902 18 45649667 45661295 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586368 S 3 1 0 MYO5B HuRef nsv909627 18 45654899 45713229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548798 S 6533 1 0 MYO5B MS17878 nsv909628 18 45701430 45798787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564328 S 6533 0 1 MYO5B IS30197 nsv2296 18 45715341 45753850 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7399 S 9 0 1 MYO5B NA12156 dgv3417n71 18 45757577 45878935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909629,nsv909630 M 6533 0 2 MYO5B IS38538,IS40568 nsv517830 18 45790820 45794097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694169 S 2026 0 1 MYO5B nsv909631 18 45814228 45864819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531551 S 6533 0 1 MYO5B MS10544 nsv833650 18 45822849 45992284 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454023 S 95 0 1 MIR4320,MYO5B nsv909632 18 45845366 45901224 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548799 S 6533 1 0 MYO5B MS17878 nsv518557 18 45845666 45853091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696000 S 2026 0 1 MYO5B nsv528145 18 45857288 45857463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704692 S 2026 0 1 MYO5B esv24940 18 45862977 45863446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18061 S 451 0 1 MYO5B NA19114 nsv909633 18 45864819 45932903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530274 S 6533 0 1 MIR4320,MYO5B MS10291 esv23780 18 45888725 45889643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18133 S 451 0 1 MYO5B NA19129 nsv510740 18 45925941 45956835 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620110 S 4 0 1 MYO5B NA15510 nsv2297 18 45934806 45977632 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4324,nssv4644 M 9 0 2 MYO5B NA12878,NA19129 esv270918 18 45935636 45936030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512582,essv2507426 M 157 2 0 Samples from several populations that are part of the HapMap project. MYO5B NA18489,NA18912 nsv436237 18 45948267 45954234 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465648 S 2 0 1 Samples from several populations that are part of the HapMap project. MYO5B NA18505 nsv512532 18 45948882 45952581 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625136 S 1 0 1 MYO5B 1 esv3542 18 45948935 45952472 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25983 S 1 0 1 Single Asian sample YH MYO5B YH nsv498880 18 45948971 45952385 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585741 S 9 0 1 MYO5B esv9694 18 45948973 45952380 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32135 S 1 0 1 MYO5B SJK dgv550n67 18 45948975 45952515 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828231,nsv828232 M 31 0 13 MYO5B AK12,AK14,AK18,AK20,AK4,AK8,NA18537,NA18547,NA18566,NA18592,NA18947,NA18973,NA18997 nsv819736 18 45948997 45952542 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419556 S 2 0 1 MYO5B AK1 esv24732 18 45949037 45952430 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12357 S 451 0 23 MYO5B NA07045,NA11894,NA11931,NA11993,NA12004,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19225 nsv514873 18 45949056 45952360 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628311 S 1414 0 1 MYO5B nsv2300 18 46075696 46091043 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1408 S 9 0 1 "" NA19240 nsv498881 18 46078955 46082992 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585742 S 9 0 1 "" esv27126 18 46079011 46082808 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20164 S 451 0 1 "" NA19240 nsv909634 18 46097752 46170203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576053 S 6533 0 1 SKA1 IS33864 esv273835 18 46103786 46109204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581543 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv2301 18 46112634 46138579 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1409 S 9 0 1 "" NA19240 nsv909635 18 46113324 46165629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548800 S 6533 1 0 SKA1 MS17878 nsv909636 18 46119985 46170203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552727 S 6533 0 1 SKA1 MS19587 dgv3418n71 18 46119985 46211467 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909642,nsv909641,nsv909637 M 6533 0 17 SKA1 IS40627,IS41771,IS41862,IS41909,MS10393,MS19303,MS19414,MS19584,MS20753,MS20843,MS21356,MS21868,MS22008,MS22103,MS22179,MS22421,MS22858 nsv436239 18 46123472 46130335 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465649 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498882 18 46124301 46130372 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585743 S 9 0 1 "" dgv3419n71 18 46132711 46170203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909639,nsv909638 M 6533 0 44 SKA1 IS30141,IS30435,IS31228,IS32891,IS34358,IS34737,IS34762,IS34768,IS34775,IS34797,IS34805,IS34896,IS35622,IS35789,IS38207,IS41819,IS41838,IS41863,IS41984,MS10203,MS14268,MS14485,MS15672,MS18742,MS19161,MS19685,MS19798,MS20195,MS20286,MS20359,MS20708,MS20813,MS21189,MS21258,MS21863,MS22093,MS22353,MS22619,MS22677,MS22705,MS23531,MS24373,MS24868,MS25373 nsv909640 18 46132711 46195440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554934 S 6533 0 1 SKA1 MS21100 esv34028 18 46138509 46524501 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MAPK4,SKA1 nsv515672 18 46141196 46170203 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676198,nssv676080,nssv691537,nssv686552,nssv691961,nssv692170,nssv691421,nssv687429,nssv687345,nssv685961,nssv683759,nssv674368,nssv659559,nssv681431,nssv682767,nssv672812,nssv664334,nssv684049,nssv665547,nssv696730,nssv690699,nssv698001,nssv675336,nssv679996,nssv691514,nssv661879,nssv665359,nssv667749,nssv677127,nssv680769,nssv680228,nssv678865,nssv660227,nssv688502,nssv660709,nssv685990,nssv689937,nssv681954,nssv669299,nssv684254 M 2026 2 38 SKA1 nsv522433 18 46141196 46195712 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705789 S 2026 1 0 SKA1 esv988818 18 46161532 46162152 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586817 S 3 1 0 SKA1 HuRef nsv519289 18 46217962 46227726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673636,nssv655213 M 2026 0 2 "" nsv509695 18 46218352 46239328 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619729 S 4 1 0 "" NA10860 nsv2302 18 46218628 46242797 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4325,nssv1410,nssv2196,nssv5701 M 9 4 0 "" NA12878,NA18555,NA19129,NA19240 nsv499183 18 46229936 46230034 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586308 S 9 1 0 "" nsv909643 18 46240787 46261873 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511157 S 6533 1 0 "" SP54988 nsv438289 18 46254963 46259069 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470716,nssv470715 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18944,NA18947 nsv9630 18 46312475 46702834 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21799,nssv24341 M 31 0 2 Samples from several populations that are part of the HapMap project. MAPK4,ME2,MRO NA18563,NA18572 nsv833651 18 46348631 46493352 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454024 S 95 0 1 MAPK4 nsv909644 18 46384530 46480066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548801 S 6533 1 0 MAPK4 MS17878 nsv2303 18 46404397 46439155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1413 S 9 1 0 MAPK4 NA19240 nsv130821 18 46417354 46417424 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149399 M 24 MAPK4 nsv527714 18 46598775 46668924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704194 S 2026 1 0 ME2,MRO nsv525950 18 46734236 46746491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702157 S 2026 0 1 "" nsv909645 18 46803943 47015624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548802 S 6533 1 0 MEX3C,SMAD4 MS17878 nsv833652 18 46926935 47077089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454026,nssv1454025 M 95 0 2 MEX3C nsv507871 18 46929568 46935568 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617936,nssv620629,nssv619202 M 4 3 0 "" CHM,NA10860,NA15510 nsv909646 18 47015624 47110171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558012 S 6533 1 0 "" MS23054 nsv2304 18 47019010 47063759 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7400 S 9 0 1 "" NA12156 esv1005284 18 47107345 47113990 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564573 S 3 0 1 "" HuRef nsv2305 18 47172879 47206753 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7401 S 9 1 0 LOC100287225 NA12156 esv2567489 18 47203436 47203903 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312339 S 1 1 0 LOC100287225 NA18507 nsv513498 18 47203603 47203790 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625908 S 1 1 0 LOC100287225 1 nsv909647 18 47290514 47391338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548803 S 6533 1 0 LOC100287225 MS17878 esv2447754 18 47292466 47293948 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285822 S 1 0 1 LOC100287225 NA18507 nsv833653 18 47306010 47496852 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454027 S 95 1 0 LOC100287225 esv2554364 18 47335344 47336662 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331774 S 1 0 1 LOC100287225 NA18507 esv273829 18 47356448 47356799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579097,essv2579553 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2443580 18 47441185 47445139 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376893 S 1 0 1 "" NA18507 esv1923657 18 47441835 47444747 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696801 S 1 0 1 "" NA18507 nsv828233 18 47448269 47448905 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423021 S 31 0 1 "" NA18552 nsv819090 18 47450357 47453035 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419463 S 2 1 0 "" AK1 nsv512533 18 47450495 47453079 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625137 S 1 0 1 "" 1 nsv821237 18 47450562 47453053 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419991 S 1 0 1 "" NA10851 nsv828234 18 47450562 47453053 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431001,nssv1434782,nssv1440721,nssv1429478,nssv1438504,nssv1430231,nssv1440034,nssv1424642,nssv1432539,nssv1434066,nssv1422253,nssv1439368 M 31 0 12 "" AK12,AK14,AK20,NA18526,NA18537,NA18564,NA18570,NA18582,NA18947,NA18951,NA18973,NA18997 nsv828235 18 47450842 47452251 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423022,nssv1430441,nssv1435511,nssv1421808,nssv1433323,nssv1426226 M 31 0 6 "" AK4,NA18552,NA18942,NA18968,NA18969,NA18972 esv26938 18 47450919 47452309 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19444 S 451 21 3 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18517,NA18909,NA18916,NA19108,NA19147,NA19190,NA19257 nsv509696 18 47455917 47482117 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621051,nssv623735 M 4 2 0 "" NA15510,NA18994 nsv2306 18 47465049 47481167 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2982,nssv5703 M 9 2 0 "" NA18555,NA19129 esv993121 18 47469965 47470956 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565825 S 3 1 0 "" HuRef nsv520385 18 47471358 47471927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694961,nssv663477,nssv675001 M 2026 0 3 "" nsv520697 18 47529967 47636360 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674234,nssv699016,nssv682957 M 2026 2 1 "" esv271113 18 47555356 47555689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525364,essv2558701,essv2530670,essv2544770,essv2523709,essv2552787,essv2538304,essv2540282,essv2564857,essv2534575,essv2561063,essv2539766,essv2549397,essv2559851,essv2528995,essv2567583,essv2553236,essv2572406,essv2578337,essv2572956,essv2567151,essv2566547,essv2527675,essv2555800,essv2531278,essv2573618,essv2572132 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA12156,NA12750,NA12873,NA18526,NA18537,NA18542,NA18547,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18579,NA18582,NA18605,NA18609,NA18940,NA18942,NA18947,NA18948,NA18952,NA18956,NA18961,NA18964,NA18973 esv28892 18 47612149 47613285 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19570 S 451 0 1 "" NA18909 dgv3420n71 18 47619019 47691080 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909649,nsv909648 M 6533 0 2 "" IS38006,IS41838 esv2518421 18 47698095 47699421 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363871 S 1 0 1 "" NA18507 esv1964356 18 47698562 47699078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504605 S 1 0 1 "" NA18507 esv4978 18 47698659 47698977 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27419 S 1 0 1 Single Asian sample YH "" YH nsv471802 18 47698735 47698919 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646083 M 0.841 95 "" nsv833654 18 47727651 47908331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454028 S 95 1 0 "" esv272126 18 47767034 47767374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519219,essv2514965,essv2513949 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12812,NA19143 esv1007273 18 47767055 47767055 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576670 S 3 1 0 "" HuRef nsv2307 18 47777417 47811668 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2984 S 9 1 0 "" NA18555 nsv458073 18 47786548 47918470 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535118 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00622 nsv470419 18 47786548 47929408 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547084 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00622 nsv833655 18 47798231 47973455 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454029 S 95 1 0 "" nsv510456 18 47901541 47907541 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621454,nssv618437 M 4 0 2 "" CHM,NA15510 nsv833656 18 47940870 48119502 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454030 S 95 1 0 "" esv268983 18 48049381 48049575 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557840,essv2571800,essv2522965,essv2539961,essv2520958,essv2551782,essv2569566,essv2536830,essv2527083,essv2561456,essv2544704,essv2523857,essv2552888,essv2538432,essv2542795,essv2540638,essv2565133,essv2534768,essv2561287,essv2539539,essv2560007,essv2565911,essv2531258,essv2567972,essv2528799,essv2572506,essv2558984,essv2542143,essv2550882,essv2543768,essv2539516,essv2578434,essv2555206,essv2533731,essv2555524,essv2567199,essv2566476,essv2555995,essv2522608,essv2576995,essv2525715,essv2529796,essv2560565,essv2524203,essv2568821,essv2549924,essv2536071,essv2548973 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA10851,NA11840,NA11931,NA18489,NA18498,NA18504,NA18508,NA18517,NA18522,NA18523,NA18526,NA18537,NA18542,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18570,NA18572,NA18573,NA18577,NA18579,NA18609,NA18638,NA18856,NA18858,NA18870,NA18912,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18956,NA18960,NA18970,NA18980,NA19093,NA19116,NA19129,NA19147,NA19225 esv275550 18 48134240 48136184 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585393 S 1250 0 1 DCC esv22158 18 48165897 48168724 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13555 S 451 0 1 DCC NA18907 esv1534314 18 48185753 48185753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218489 S 2 1 0 DCC HuRef nsv833657 18 48220603 48386185 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454032,nssv1454033,nssv1454031,nssv1454035,nssv1454034,nssv1454038,nssv1454037,nssv1454036 M 95 0 8 DCC nsv2308 18 48244346 48254500 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1414 S 9 1 0 DCC NA19240 esv272016 18 48246117 48246638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499973,essv2500650,essv2501548,essv2505408,essv2495976,essv2495140 M 157 6 0 Samples from several populations that are part of the HapMap project. DCC NA18558,NA18571,NA18608,NA18952,NA18961,NA18964 nsv521063 18 48261248 48263676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681100,nssv681037 M 2026 0 2 DCC esv267489 18 48351712 48352216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510125,essv2500825,essv2503248,essv2495301,essv2508023,essv2501687,essv2509641,essv2503596,essv2499528 M 157 9 0 Samples from several populations that are part of the HapMap project. DCC NA06986,NA07357,NA11829,NA11830,NA11881,NA11992,NA12003,NA12144,NA19129 nsv515816 18 48379680 48412118 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683492,nssv664871 M 2026 2 0 DCC nsv458076 18 48384335 48412076 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535120 S 1557 1 0 DCC 1780854206_A nsv909650 18 48427619 48447559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514491 S 6533 0 1 DCC SP56005 esv270128 18 48484444 48484771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557271,essv2552628,essv2551663,essv2532342,essv2578624,essv2558766,essv2539110,essv2527111,essv2529627,essv2575634,essv2538732,essv2530198,essv2560258,essv2545952,essv2574360,essv2551221 M 157 16 0 Samples from several populations that are part of the HapMap project. DCC NA18499,NA18502,NA18504,NA18505,NA18510,NA18516,NA18519,NA18522,NA19093,NA19099,NA19108,NA19141,NA19190,NA19239,NA19240,NA19257 esv273444 18 48484444 48484787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580226,essv2580306,essv2580038,essv2581016,essv2579764 M 7 5 0 Samples from several populations that are part of the HapMap project. DCC NA12878,NA12891,NA12892,NA19238,NA19240 nsv458079 18 48610420 48876902 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535121 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DCC HGDP01339 nsv516994 18 48610758 48611793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655098,nssv686710,nssv686599,nssv667002,nssv653572 M 2026 0 5 DCC nsv521932 18 48610758 48620939 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694701 S 2026 0 1 DCC esv2938 18 48686164 48687347 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25379 S 1 0 1 Single Asian sample YH DCC YH esv273869 18 48706233 48706465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584825,essv2583493 M 7 2 0 Samples from several populations that are part of the HapMap project. DCC NA19239,NA19240 esv269222 18 48706238 48706520 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2547249,essv2530628,essv2543013,essv2542024,essv2531653,essv2572047,essv2529809,essv2538584,essv2545098,essv2545835,essv2574073 M 157 11 0 Samples from several populations that are part of the HapMap project. DCC NA12717,NA12873,NA18550,NA18856,NA18961,NA18973,NA19093,NA19108,NA19172,NA19239,NA19240 esv2592738 18 48716077 48717487 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342283 S 1 0 1 DCC NA18507 esv2108318 18 48716383 48717206 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873881 S 1 0 1 DCC NA18507 esv23617 18 48716526 48717028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17314 S 451 0 1 DCC NA18909 esv1007284 18 48716529 48717047 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586870 S 3 0 1 DCC HuRef nsv828236 18 48716529 48717047 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436707,nssv1430994,nssv1424643,nssv1428722,nssv1431013,nssv1440722,nssv1436238,nssv1431720,nssv1433324,nssv1423090,nssv1437111,nssv1426227 M 31 0 12 DCC AK10,AK16,AK18,AK4,NA18542,NA18547,NA18564,NA18566,NA18582,NA18592,NA18947,NA18972 esv6032 18 48716558 48717032 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28473 S 1 0 1 DCC SJK nsv131400 18 48716564 48717028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149978 M 24 DCC esv2518546 18 48716565 48717029 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330200 S 1 0 1 DCC NA18507 nsv2309 18 48730184 48738502 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7402 S 9 1 0 DCC NA12156 esv2251611 18 48741886 48743652 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844648 S 1 0 1 DCC NA18507 esv4836 18 48742023 48743542 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27277 S 1 0 1 Single Asian sample YH DCC YH esv9355 18 48742063 48743492 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31796 S 1 0 1 DCC SJK nsv130811 18 48742064 48743491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149389 M 24 DCC nsv458080 18 48750682 48843081 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535122 S 1557 0 1 DCC 1780854464_A nsv909651 18 48807971 48935108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548804 S 6533 1 0 DCC MS17878 esv275215 18 48836808 48843167 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585391 S 1250 0 1 DCC esv1388943 18 48866358 48866821 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138065 S 2 0 1 DCC HuRef nsv528217 18 48875048 48875453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704778 S 2026 0 1 DCC esv2252212 18 48984240 48984669 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819402 S 1 0 1 DCC NA18507 esv1146191 18 48986505 48986505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839536 S 2 1 0 DCC HuRef nsv909652 18 49067508 49337138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548805 S 6533 1 0 DCC MS17878 esv2653679 18 49092546 49092713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191547 S 1 0 1 DCC NA18507 nsv828237 18 49112514 49113152 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426228 S 31 1 0 DCC AK4 nsv828238 18 49127656 49131526 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433325 S 31 0 1 DCC NA18972 esv1010861 18 49155273 49155885 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586920 S 3 0 1 DCC HuRef nsv507872 18 49175504 49181504 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619203,nssv617937 M 4 2 0 DCC CHM,NA10860 esv2496857 18 49179133 49180682 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228365 S 1 0 1 DCC NA18507 esv2111490 18 49179783 49180495 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945454 S 1 0 1 DCC NA18507 esv4954 18 49179928 49180347 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27395 S 1 0 1 Single Asian sample YH DCC YH esv7831 18 49179988 49180300 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30272 S 1 0 1 DCC SJK esv995021 18 49179988 49180310 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584585 S 3 0 1 DCC HuRef esv1682692 18 49179990 49180313 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028370 S 2 0 1 DCC HuRef nsv507873 18 49188468 49194468 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617938,nssv619204 M 4 2 0 DCC CHM,NA10860 nsv510457 18 49225402 49231402 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618438 S 4 0 1 DCC CHM esv268292 18 49240518 49240859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575929,essv2540934,essv2546507,essv2521073,essv2526104,essv2536380,essv2522813,essv2543887,essv2568281,essv2545578,essv2532018,essv2570735,essv2548437,essv2521472,essv2576679,essv2550701,essv2535462,essv2554196,essv2544357,essv2552296,essv2520321,essv2558579,essv2577669,essv2553806,essv2559709,essv2576380,essv2563974,essv2554938,essv2530553,essv2561882,essv2537408,essv2528533,essv2547028,essv2532374,essv2536936,essv2538912,essv2569675,essv2523488,essv2541364,essv2538298,essv2524519,essv2565137,essv2565904,essv2530956,essv2532580,essv2568054,essv2528973,essv2567356,essv2563884,essv2535791,essv2550880,essv2568854,essv2533885,essv2572927,essv2534217,essv2531365,essv2573393,essv2526814,essv2529768,essv2526396,essv2560274,essv2551348,essv2535926,essv2537830,essv2554508,essv2524775 M 157 66 0 Samples from several populations that are part of the HapMap project. DCC NA06986,NA07000,NA07346,NA07357,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11995,NA12003,NA12006,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12750,NA12761,NA12763,NA12776,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18505,NA18517,NA18519,NA18520,NA18537,NA18545,NA18547,NA18555,NA18558,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18603,NA18608,NA18858,NA18861,NA18916,NA18942,NA18959,NA18961,NA18964,NA19005,NA19093,NA19114,NA19190,NA19257 esv274482 18 49240521 49240860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581705,essv2582578,essv2582853 M 7 3 0 Samples from several populations that are part of the HapMap project. DCC NA12878,NA12891,NA12892 esv1008613 18 49240536 49240536 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576905 S 3 1 0 DCC HuRef nsv510741 18 49244819 49299194 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622734 S 4 0 1 DCC NA18994 nsv2311 18 49251654 49273141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4326 S 9 1 0 DCC NA12878 nsv909653 18 49367477 49467364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548806 S 6533 1 0 "" MS17878 nsv909654 18 49369786 49512336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579191 S 6533 0 1 "" IS35028 nsv833658 18 49370974 49572264 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454039 S 95 1 0 "" dgv551n67 18 49390426 49391842 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828242,nsv828239,nsv828240 M 31 0 19 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18537,NA18542,NA18564,NA18566,NA18570,NA18582,NA18969,NA18972,NA18997,NA18999 nsv821301 18 49390426 49391842 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419994 S 1 0 1 "" NA10851 esv26137 18 49390443 49391768 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11853 S 451 23 0 "" NA07037,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18508,NA18858,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv819590 18 49390456 49391785 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419240 S 2 1 0 "" AK1 nsv519132 18 49440541 49450390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696612 S 2026 0 1 "" nsv819776 18 49459710 49464584 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419666 S 2 1 0 "" AK1 esv28144 18 49459896 49464733 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15467 S 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820503 18 49459896 49464733 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419995 S 1 0 1 "" NA10851 nsv514874 18 49460688 49464548 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628312 S 1414 0 1 "" nsv442441 18 49461207 49464634 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv909655 18 49467364 49529525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554090 S 6533 0 1 "" MS20612 nsv523580 18 49500758 49504661 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699366 S 2026 0 1 "" dgv1028e1 18 49503791 49532928 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24340,esv1358 M 271 0 0 "" NA11882 esv2509592 18 49521231 49522025 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174181 S 1 1 0 "" NA18507 esv2497629 18 49573071 49574439 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344273 S 1 0 1 "" NA18507 nsv2312 18 49671865 49691438 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1415,nssv5704 M 9 2 0 "" NA19129,NA19240 esv271169 18 49679701 49679786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514584,essv2519333,essv2517086,essv2515310,essv2516435,essv2515636,essv2516836,essv2515792,essv2515259,essv2518918,essv2518308 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA11931,NA12249,NA12814,NA12815,NA12892,NA18969,NA19238,NA19239,NA19240 esv272781 18 49679706 49685784 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583008,essv2584240,essv2584807,essv2583558 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv828243 18 49689772 49690391 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424646 S 31 1 0 "" NA18582 nsv820185 18 49690051 49690517 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418965 S 2 1 0 "" AK1 nsv528642 18 49704264 49705698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705274 S 2026 0 1 "" nsv510742 18 49719272 49800851 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622735 S 4 0 1 "" NA18994 esv274366 18 49742249 49742407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579116 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270733 18 49742285 49742427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510172,essv2499395,essv2505075,essv2512202,essv2510359,essv2493444,essv2500295,essv2509075,essv2506035,essv2499990,essv2510077,essv2507245,essv2493084,essv2509561,essv2503949,essv2495036 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA10851,NA11994,NA11995,NA12155,NA12414,NA12763,NA12891,NA18522,NA18523,NA18558,NA18593,NA18870,NA18951,NA19129 nsv522885 18 49753121 49797200 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698541 S 2026 0 1 "" esv275296 18 49778199 49782354 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585939,essv2585949 M 1250 1 1 "" nsv438290 18 49791725 49798777 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470717 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19116 nsv518555 18 49795877 49796651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695998 S 2026 0 1 "" nsv458081 18 49819705 49843034 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535123 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01386 esv993042 18 49963410 49974316 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565112 S 3 0 1 MBD2 HuRef esv25725 18 50008381 50010821 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20039 S 451 1 0 "" NA11931 nsv130853 18 50016744 50016744 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149431 M 24 "" nsv433313 18 50059128 50074033 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463194 S 9 0 1 Samples from several populations that are part of the HapMap project. POLI NA18517 nsv828244 18 50075144 50078185 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426229 S 31 0 1 POLI AK4 nsv909656 18 50155863 50215755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505591 S 6533 0 1 C18orf54 SP53687 nsv828245 18 50158508 50161408 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427137 S 31 1 0 C18orf54 AK6 nsv2313 18 50172057 50248272 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1416,nssv2197,nssv5705,nssv4327 M 9 0 4 "" NA12878,NA18555,NA19129,NA19240 nsv510743 18 50191647 50211371 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622736,nssv617433 M 4 0 2 "" CHM,NA18994 nsv436241 18 50205543 50211216 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465650 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2641960 18 50206184 50211398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322244 S 1 0 1 "" NA18507 nsv512534 18 50206649 50211065 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625138 S 1 0 1 "" 1 esv2162659 18 50206776 50211152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704309 S 1 0 1 "" NA18507 esv4080 18 50206914 50211214 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26521 S 1 0 1 Single Asian sample YH "" YH dgv27n47 18 50206961 50210963 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498883,nsv498884 M 9 0 2 "" dgv65n6 18 50206962 50210962 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv130928,nsv131137 M 24 "" esv9399 18 50206967 50210966 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31840 S 1 0 1 "" SJK dgv188n21 18 50251961 50558610 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519491,nsv528776 M 2026 0 2 C18orf26 nsv833660 18 50364118 50524795 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454040 S 95 1 0 C18orf26 nsv522262 18 50535588 50544742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694150 S 2026 0 1 "" esv26321 18 50542199 50545156 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12729 S 451 0 1 "" NA11995 esv2581282 18 50597867 50599357 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267537 S 1 0 1 "" NA18507 esv1956016 18 50598006 50598749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574049 S 1 0 1 "" NA18507 nsv510458 18 50649559 50655559 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621455,nssv624196,nssv622279 M 4 0 3 RAB27B NA10860,NA15510,NA18994 nsv520160 18 50654311 50654587 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662015,nssv680144,nssv683892,nssv671775,nssv661295 M 2026 0 5 RAB27B nsv2314 18 50667809 50714361 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6762 S 9 0 1 RAB27B NA12156 esv268797 18 50720085 50720345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505064,essv2494215,essv2509655,essv2496303,essv2493666,essv2505846,essv2493045,essv2502662,essv2499615 M 157 9 0 Samples from several populations that are part of the HapMap project. CCDC68 NA12828,NA18502,NA18508,NA18511,NA18517,NA18861,NA18951,NA18965,NA19225 esv2651782 18 50845722 50847270 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337772 S 1 0 1 "" NA18507 nsv131012 18 50973183 50973276 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149590 M 24 "" nsv2315 18 50997934 51042551 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7403 S 9 0 1 TCF4 NA12156 esv2202225 18 51010603 51010962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910508 S 1 0 1 "" NA18507 esv273068 18 51090843 51091143 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580838 S 7 1 0 Samples from several populations that are part of the HapMap project. TCF4 NA19238 nsv438291 18 51291248 51296309 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470719 S 269 0 1 Samples from several populations that are part of the HapMap project. TCF4 NA19116 esv274560 18 51296899 51297197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580062 S 7 1 0 Samples from several populations that are part of the HapMap project. TCF4 hapmap_pooled_sample_set esv271560 18 51297042 51297368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575989,essv2540714,essv2544066,essv2568284,essv2577596,essv2521578,essv2525539,essv2550278,essv2547592,essv2577961,essv2565341,essv2576438,essv2564270,essv2557419,essv2569597,essv2538943,essv2523703,essv2540463,essv2524554,essv2534511,essv2549291,essv2519754,essv2560156,essv2522101,essv2532476,essv2567859,essv2529027,essv2541686,essv2570122,essv2535593,essv2559307,essv2562344,essv2539462,essv2533942,essv2578311,essv2572949,essv2555346,essv2566391,essv2573871,essv2543096,essv2571863,essv2571191,essv2536327,essv2538077,essv2525043,essv2557957 M 157 46 0 Samples from several populations that are part of the HapMap project. TCF4 NA06986,NA07000,NA07357,NA10851,NA11830,NA11831,NA11992,NA11995,NA12043,NA12144,NA12156,NA12234,NA12717,NA12761,NA12812,NA12814,NA12828,NA18499,NA18508,NA18519,NA18537,NA18552,NA18555,NA18561,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18638,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18948,NA18951,NA18965,NA18973,NA19238 esv2635967 18 51372676 51373895 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242861 S 1 0 1 TCF4 NA18507 esv2487089 18 51392585 51394097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259880 S 1 0 1 TCF4 NA18507 nsv828246 18 51406588 51408290 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426231 S 31 1 0 TCF4 AK4 nsv131347 18 51439754 51439754 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149925 M 24 TCF4 nsv516739 18 51467056 51467830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670554,nssv656210 M 2026 0 2 "" esv28898 18 51514726 51516780 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15850 S 451 0 5 "" NA18505,NA18858,NA18907,NA19099,NA19108 nsv909657 18 51831360 51983057 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548807 S 6533 1 0 LOC100505474 MS17878 nsv833661 18 51863272 52041050 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454041,nssv1454042 M 95 2 0 LOC100505474 esv25232 18 51908041 51908838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11406 S 451 0 2 LOC100505474 NA18907,NA19225 esv2506493 18 51916068 51917515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319403 S 1 0 1 LOC100505474 NA18507 esv1107800 18 51916665 51916728 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258120 S 2 0 1 LOC100505474 HuRef esv274000 18 51920569 51920926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579902 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100505474 NA12892 dgv189n21 18 51998525 52004487 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521743,nsv520113 M 2026 3 0 "" nsv909658 18 52026288 52063003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598585 S 6533 1 0 "" IS41317 nsv909659 18 52069922 52285486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548808 S 6533 1 0 "" MS17878 esv3762 18 52079984 52082088 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26203 S 1 0 1 Single Asian sample YH "" YH nsv132192 18 52080025 52081996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150770 M 24 "" esv22748 18 52080186 52082237 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14245,esv12302 M 451 0 3 "" NA12749,NA18907,NA19147 esv1108450 18 52080337 52080337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644397 S 2 1 0 "" HuRef esv1154733 18 52081014 52081086 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733853 S 2 0 1 "" HuRef esv1634369 18 52081265 52081265 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171481 S 2 1 0 "" HuRef nsv833662 18 52125693 52259186 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454043 S 95 1 0 "" nsv2316 18 52138442 52171515 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5706 S 9 1 0 "" NA19129 nsv828247 18 52173114 52177245 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423102 S 31 0 1 "" NA18547 esv7364 18 52295439 52295526 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29805 S 1 1 0 "" SJK esv274578 18 52324500 52325007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580756 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv130735 18 52374139 52383706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149313 M 24 "" esv1616072 18 52418624 52418692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146597 S 2 0 1 "" HuRef esv271272 18 52508035 52508375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518790,essv2518043,essv2516018,essv2517601 M 157 4 0 Samples from several populations that are part of the HapMap project. WDR7 NA12045,NA12872,NA12873,NA12878 esv273667 18 52508035 52508375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581542 S 7 1 0 Samples from several populations that are part of the HapMap project. WDR7 NA12878 nsv524292 18 52510578 52520793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700193 S 2026 0 1 WDR7 nsv521938 18 52566351 52706471 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694707 S 2026 1 0 WDR7 nsv2317 18 52573240 52601433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2198 S 9 1 0 WDR7 NA18555 nsv517361 18 52575873 52716353 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664758,nssv701245,nssv685487,nssv695550,nssv692312,nssv651817,nssv667285,nssv683803,nssv700948,nssv680705,nssv660435,nssv660866,nssv661166,nssv674091 M 2026 10 4 WDR7 esv259896 18 52644195 52644615 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398635,essv2400230,essv2396077,essv2398797,essv2398611,essv2399042,essv2398511,essv2396561,essv2399104,essv2401158,essv2396023,essv2395779,essv2394474,essv2396815,essv2399951,essv2396798,essv2400759,essv2396712,essv2397960,essv2399746,essv2396055,essv2398403,essv2400354,essv2398538,essv2397428,essv2395059,essv2396895,essv2400409,essv2398999,essv2400168,essv2399142,essv2399465,essv2394878,essv2395478,essv2398167,essv2399648,essv2397005,essv2399291 M 144 0 0 Samples from several populations that are part of the HapMap project. WDR7 NA06986,NA07037,NA07346,NA07347,NA10847,NA10851,NA11894,NA11919,NA11920,NA11931,NA12003,NA12004,NA12045,NA12155,NA12156,NA12249,NA12717,NA12750,NA12751,NA12828,NA18537,NA18552,NA18555,NA18562,NA18566,NA18571,NA18579,NA18592,NA18605,NA18608,NA18609,NA18858,NA18942,NA18948,NA18949,NA18964,NA18973,NA19102 esv1004514 18 52644284 52644284 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568665 S 3 1 0 WDR7 HuRef nsv817793 18 52742869 52772681 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417942 S 112 1 0 WDR7 NA18852 nsv516762 18 52746016 52772681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687985,nssv663186,nssv656934,nssv670675 M 2026 0 4 WDR7 nsv909660 18 52785380 52845149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505433 S 6533 1 0 WDR7 SP53473 esv269189 18 52802254 52802499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540812,essv2523038,essv2544195,essv2550517,essv2520406,essv2530706,essv2541418,essv2570309,essv2555591 M 157 9 0 Samples from several populations that are part of the HapMap project. WDR7 NA11831,NA11931,NA11992,NA12155,NA12716,NA12873,NA18545,NA18593,NA18945 nsv909661 18 52810853 52912680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590842 S 6533 1 0 WDR7 IS38593 nsv510943 18 52823934 52843923 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618678 S 4 0 0 WDR7 CHM esv1419362 18 52843012 52843012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171221 S 2 1 0 WDR7 HuRef esv1508428 18 52843149 52843149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016359 S 2 1 0 WDR7 HuRef esv272042 18 52857156 52857494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514642,essv2516692,essv2517515,essv2517125,essv2514840,essv2515298,essv2518507,essv2515076,essv2515695,essv2518065,essv2514499,essv2517711,essv2516274,essv2517266,essv2513922,essv2518922,essv2518290,essv2519389,essv2513682 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA11918,NA11931,NA12234,NA12249,NA12287,NA12812,NA12815,NA12872,NA12874,NA12878,NA12891,NA18970,NA19143,NA19239,NA19240 esv274353 18 52857161 52857489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581787,essv2582452,essv2584480,essv2583665 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv458083 18 52865314 52892671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535124 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01152 esv2437519 18 52880315 52880692 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367449 S 1 1 0 "" NA18507 nsv909662 18 52912971 53137639 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505434 S 6533 1 0 BOD1P SP53473 esv29716 18 52963553 52964562 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16549 S 451 1 0 "" NA12828 esv269710 18 52979601 52979829 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508293,essv2502711 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18561,NA18965 esv270357 18 53059010 53059372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504758,essv2509507,essv2497689,essv2496999 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA19099,NA19129,NA19147,NA19190 nsv2318 18 53069876 53103461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7404 S 9 1 0 "" NA12156 esv2456093 18 53097222 53100409 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343077 S 1 0 1 "" NA18507 nsv819006 18 53097461 53099799 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419419 S 2 0 1 "" AK1 esv1927627 18 53097564 53099904 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517689 S 1 0 1 "" NA18507 nsv512535 18 53097615 53099720 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625139 S 1 0 1 "" 1 esv5322 18 53097683 53099870 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27763 S 1 0 1 Single Asian sample YH "" YH nsv820695 18 53097727 53099769 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419996 S 1 0 1 "" NA10851 nsv828248 18 53097727 53099769 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424647,nssv1438505,nssv1422255,nssv1428724,nssv1427139,nssv1427928,nssv1423114,nssv1431025,nssv1430997,nssv1434784,nssv1436240,nssv1421841,nssv1436718,nssv1423844,nssv1437842,nssv1434067,nssv1439369 M 31 1 16 "" AK10,AK16,AK6,AK8,NA18526,NA18547,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18969,NA18973,NA18997,NA18999 esv22691 18 53097735 53099702 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13736 S 451 13 14 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 esv1000879 18 53097735 53099784 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564268 S 3 0 1 "" HuRef nsv828249 18 53098115 53099769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425401,nssv1437113,nssv1429480,nssv1440724,nssv1430233,nssv1433327,nssv1431722,nssv1432541,nssv1440036 M 31 0 9 "" AK12,AK14,AK18,AK2,AK20,NA18537,NA18542,NA18564,NA18972 esv2057088 18 53111165 53111635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703140 S 1 0 1 "" NA18507 nsv131283 18 53111329 53111442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149861 M 24 "" nsv828250 18 53242240 53260582 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427140 S 31 1 0 ONECUT2 AK6 esv995991 18 53271815 53271815 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582134 S 3 1 0 ONECUT2 HuRef esv1478795 18 53271816 53271816 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958635 S 2 1 0 ONECUT2 HuRef esv2643933 18 53327523 53329271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330706 S 1 0 1 "" NA18507 esv2324771 18 53328079 53328639 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745653 S 1 0 1 "" NA18507 nsv512536 18 53328144 53330331 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625140 S 1 0 1 "" 1 esv2751777 18 53334033 53623314 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981577,essv6981578,essv6981579,essv6981580,essv6988422 M 771 1 0 ATP8B1,FECH,LOC100505549,NARS BEC_301 nsv458086 18 53335746 53574937 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535125 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP8B1,FECH,LOC100505549,NARS HGDP01212 nsv909663 18 53337015 53587347 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589141 S 6533 1 0 ATP8B1,FECH,LOC100505549,NARS IS38293 nsv527744 18 53346679 53350257 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704230 S 2026 0 1 "" nsv833663 18 53367260 53536819 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454044 S 95 1 0 ATP8B1,FECH,LOC100505549,NARS nsv909664 18 53401892 53470470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570830 S 6533 0 1 ATP8B1,FECH,LOC100505549,NARS IS32322 esv1228761 18 53451234 53451234 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077974 S 2 1 0 LOC100505549 HuRef nsv131427 18 53452306 53452531 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150005 M 24 LOC100505549 nsv2319 18 53456312 53476247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10160 S 9 1 0 ATP8B1,LOC100505549 NA18956 esv1027456 18 53460840 53460840 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243612 S 2 1 0 LOC100505549 HuRef nsv458087 18 53476197 53503387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535126 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP8B1,LOC100505549 HGDP00540 esv1788273 18 53496919 53497242 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345056 S 2 0 1 ATP8B1 HuRef esv1135051 18 53550364 53550364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037839 S 2 1 0 ATP8B1 HuRef esv1050363 18 53550502 53550564 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192037 S 2 0 1 ATP8B1 HuRef nsv2320 18 53564954 53596883 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10161 S 9 1 0 ATP8B1 NA18956 nsv909665 18 53622868 53667211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537604 S 6533 0 1 "" MS13254 nsv909666 18 53646206 53812821 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589142 S 6533 1 0 "" IS38293 nsv130771 18 53653454 53654524 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149349 M 24 "" esv997861 18 53678531 53679272 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586103 S 3 0 1 "" HuRef nsv512537 18 53819845 53822543 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625141 S 1 0 1 "" 1 esv2517279 18 53821189 53822983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279825 S 1 0 1 "" NA18507 esv1926350 18 53821924 53822633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669015 S 1 0 1 "" NA18507 esv2878 18 53822087 53822583 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25319 S 1 0 1 Single Asian sample YH "" YH esv8829 18 53822113 53822424 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31270 S 1 0 1 "" SJK esv989958 18 53822125 53822430 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569359 S 3 0 1 "" HuRef esv1623496 18 53822134 53822440 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700785 S 2 0 1 "" HuRef nsv131251 18 53822135 53822440 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149829 M 24 "" nsv523158 18 53879847 53880500 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698867 S 2026 1 0 NEDD4L nsv2322 18 53927764 53959785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10163 S 9 1 0 NEDD4L NA18956 esv1752057 18 53948536 53948536 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595408 S 2 1 0 NEDD4L HuRef esv1432973 18 53948832 53949424 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702906 S 2 0 1 NEDD4L HuRef esv2426857 18 53951904 53953551 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188987 S 1 0 1 NEDD4L NA18507 esv2006464 18 53952454 53953106 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565351 S 1 0 1 NEDD4L NA18507 esv3030 18 53952523 53952992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25471 S 1 0 1 Single Asian sample YH NEDD4L YH esv1499259 18 53952590 53952916 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362121 S 2 0 1 NEDD4L HuRef nsv131445 18 53952591 53952916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150023 M 24 NEDD4L esv7213 18 53952613 53952907 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29654 S 1 0 1 NEDD4L SJK nsv510459 18 53973708 53979708 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618439 S 4 0 1 NEDD4L CHM esv2572802 18 53988314 53989909 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276072 S 1 0 1 NEDD4L NA18507 nsv2323 18 54009148 54043062 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2985 S 9 1 0 NEDD4L NA18555 esv2643904 18 54027220 54027795 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357544 S 1 1 0 NEDD4L NA18507 nsv518049 18 54048700 54054001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695460 S 2026 0 1 NEDD4L esv29895 18 54059726 54060326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16105 S 451 0 1 NEDD4L NA19257 nsv528313 18 54073769 54088089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704892 S 2026 0 1 NEDD4L dgv1029e1 18 54081842 54086942 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21354,essv18812,essv20536 M 271 0 0 NEDD4L NA10860,NA11995,NA12248 essv18552 18 54081842 54089919 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NEDD4L NA11993 dgv1030e1 18 54081842 54095115 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17689,esv1043 M 271 0 0 NEDD4L NA10835 nsv442442 18 54081846 54086942 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NEDD4L esv29817 18 54082087 54088134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13971 S 451 0 2 NEDD4L NA11993,NA11995 nsv514875 18 54082096 54086836 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628313 S 1414 0 1 NEDD4L nsv516529 18 54087084 54088089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655689,nssv684953,nssv664594,nssv653064,nssv663358,nssv690677,nssv689456,nssv653921,nssv693800,nssv679297,nssv652244,nssv689378,nssv668101,nssv674950 M 2026 0 14 NEDD4L nsv817794 18 54087084 54088089 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415921,nssv1415874,nssv1415875 M 112 0 3 NEDD4L NA10860,NA11993,NA11995 esv2138002 18 54187472 54187871 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910947 S 1 0 1 NEDD4L NA18507 nsv458089 18 54288805 54313093 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535127 S 1557 0 1 ALPK2 NINDS_198 nsv909667 18 54332923 54362167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499511 S 6533 1 0 ALPK2 SP50159 nsv521388 18 54357935 54364370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697998 S 2026 0 1 ALPK2 esv2442112 18 54368343 54369165 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324924 S 1 1 0 ALPK2 NA18507 esv269606 18 54458313 54458667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512599,essv2511772,essv2504183,essv2494638,essv2494949,essv2506232,essv2505279,essv2513488,essv2509349,essv2495602,essv2501264,essv2506995,essv2499120,essv2498675,essv2510415,essv2499769 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18499,NA18505,NA18519,NA18520,NA18523,NA18853,NA18907,NA18909,NA18916,NA19093,NA19102,NA19114,NA19138,NA19172,NA19225 esv2447858 18 54528512 54530024 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320365 S 1 0 1 MALT1 NA18507 nsv819829 18 54530144 54533333 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419518 S 2 0 1 MALT1 AK1 nsv519742 18 54533105 54567673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678987,nssv658091 M 2026 0 2 MALT1 nsv820257 18 54541462 54565655 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418696 S 2 0 1 MALT1 AK1 nsv524760 18 54567673 54573848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700751 S 2026 0 1 MALT1 esv1006983 18 54623610 54630116 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564617 S 3 0 1 "" HuRef nsv2324 18 54629790 54637236 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7405 S 9 0 1 "" NA12156 esv28415 18 54688335 54690872 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12553 S 451 0 1 ZNF532 NA19225 esv1419346 18 54707100 54707100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213565 S 2 1 0 ZNF532 HuRef nsv2325 18 54713349 54747591 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4328 S 9 1 0 ZNF532 NA12878 nsv833664 18 54765321 54911494 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454045 S 95 0 1 LOC390858,ZNF532 nsv2326 18 54792971 54806556 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7406 S 9 0 1 ZNF532 NA12156 nsv909668 18 54810638 54845759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556018 S 6533 0 1 "" MS21738 nsv525125 18 54830479 54845759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701193 S 2026 0 1 "" nsv526202 18 54835165 54837156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702465 S 2026 0 1 "" nsv130933 18 54847386 54855869 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149511 M 24 LOC390858 nsv909669 18 54875241 54924425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552689 S 6533 0 1 "" MS19584 nsv525195 18 54888767 54895646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701276 S 2026 0 1 "" nsv527272 18 54891155 54895646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703682 S 2026 0 1 "" esv1172783 18 54899539 54899539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224442 S 2 1 0 "" HuRef nsv519425 18 54907113 54909556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696847 S 2026 0 1 "" esv22329 18 54921134 54921820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13417 S 451 0 1 "" NA12489 nsv909670 18 54938546 54968042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548809 S 6533 1 0 SEC11C MS17878 esv268428 18 54970419 54970670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503252,essv2512227,essv2504319,essv2496552,essv2501197,essv2500411,essv2499932,essv2506377,essv2500994,essv2507187,essv2507386,essv2495996,essv2501522,essv2506883,essv2506721,essv2509578,essv2513060 M 157 17 0 Samples from several populations that are part of the HapMap project. SEC11C NA10847,NA11881,NA12155,NA18505,NA18510,NA18516,NA18537,NA18562,NA18566,NA18856,NA18870,NA18912,NA18961,NA19093,NA19102,NA19108,NA19129 esv2750760 18 55000993 55001825 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98190 S 51 1 0 "" 21772 nsv132154 18 55051914 55051914 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150732 M 24 "" nsv522853 18 55146376 55183633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698507 S 2026 0 1 LMAN1 esv998164 18 55183562 55184093 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587191 S 3 0 1 "" HuRef esv7793 18 55216752 55216854 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30234 S 1 1 0 "" SJK nsv909671 18 55279936 55485572 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548810 S 6533 1 0 CCBE1 MS17878 nsv828251 18 55281243 55281769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432542 S 31 0 1 CCBE1 AK20 esv274875 18 55282276 55285132 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585676,essv2586083 M 1250 1 1 CCBE1 nsv513499 18 55291535 55291968 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625909 S 1 1 0 CCBE1 1 esv2507425 18 55291747 55292503 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170644 S 1 1 0 CCBE1 NA18507 esv275221 18 55292533 55295531 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585160 S 1250 0 1 CCBE1 esv267528 18 55301068 55301418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525999,essv2568326,essv2577592,essv2570492,essv2521519,essv2554014,essv2544236,essv2552303,essv2520482,essv2529262,essv2577959,essv2559433,essv2576442,essv2554907,essv2520743,essv2544716,essv2523874,essv2538448,essv2524596,essv2560142,essv2565970,essv2532783,essv2567958,essv2567423,essv2541717,essv2566500,essv2527575,essv2529765,essv2538020,essv2548861,essv2547915,essv2557952 M 157 32 0 Samples from several populations that are part of the HapMap project. CCBE1 NA07000,NA07037,NA07347,NA10851,NA11918,NA11995,NA12043,NA12044,NA12144,NA12287,NA12414,NA12489,NA12716,NA12749,NA12761,NA12776,NA12814,NA12872,NA18498,NA18526,NA18537,NA18547,NA18555,NA18570,NA18572,NA18576,NA18577,NA18582,NA18592,NA18948,NA18952,NA19093 esv1302581 18 55301101 55301101 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610497 S 2 1 0 CCBE1 HuRef nsv522624 18 55365136 55367006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706021 S 2026 0 1 CCBE1 esv2578250 18 55408839 55410393 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215969 S 1 0 1 CCBE1 NA18507 esv2344726 18 55408963 55409708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564537 S 1 0 1 CCBE1 NA18507 esv4345 18 55409110 55409585 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26786 S 1 0 1 Single Asian sample YH CCBE1 YH esv8710 18 55409164 55409498 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31151 S 1 0 1 CCBE1 SJK nsv470420 18 55507128 55530466 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547085 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCBE1 HGDP01202 dgv68n6 18 55516873 55526762 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131447,nsv131005 M 24 "" esv268932 18 55523715 55524052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514505,essv2519255,essv2517464,essv2514130,essv2518771,essv2515342,essv2518443,essv2515104,essv2515750,essv2518113,essv2517865,essv2516215,essv2516887,essv2515209,essv2518913,essv2518372 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA11918,NA12043,NA12045,NA12249,NA12287,NA12812,NA12815,NA12872,NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv273182 18 55523720 55524047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581810,essv2582681,essv2582873,essv2584319,essv2584546,essv2583842 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 dgv69n6 18 55553980 55562747 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131630,nsv131481 M 24 "" dgv552n67 18 55605159 55607033 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828254,nsv828255 M 31 0 4 "" AK2,NA18582,NA18972,NA18999 nsv131680 18 55614674 55624505 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150258 M 24 "" dgv190n21 18 55623746 55625566 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521292,nsv523460 M 2026 0 2 "" nsv132059 18 55633720 55633818 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150637 M 24 "" esv32948 18 55641331 55641670 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94173 S 51 0 1 "" 22394 nsv2327 18 55661941 55696000 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7407 S 9 1 0 "" NA12156 nsv523909 18 55715245 55717819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699752 S 2026 0 1 "" nsv523228 18 55715245 55719673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698951 S 2026 0 1 PMAIP1 esv34188 18 55723871 55732462 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv131097 18 55786357 55786357 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149675 M 24 "" esv268653 18 55791045 55791266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511185,essv2508341,essv2498594,essv2505760,essv2495678,essv2503159,essv2511137,essv2509536,essv2497516 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12749,NA18858,NA18861,NA18916,NA18943,NA18944,NA19129,NA19147 nsv515764 18 55802280 55826838 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664707,nssv690477,nssv684226,nssv687325,nssv668203,nssv669300,nssv684644,nssv656332,nssv693165,nssv658014,nssv674903,nssv679079,nssv689755,nssv684994 M 2026 14 0 "" nsv9631 18 55802910 55822613 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25489 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 nsv442443 18 55803727 55815999 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1031e1 18 55803729 55814543 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16388,essv8664 M 271 0 0 "" NA19101,NA19172 esv2421426 18 55803729 55816004 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018633,essv5159016,essv5007183,essv5045353,essv5091235,essv5110633,essv5009619,essv5156471,essv5085149,essv5158386,essv5083221,essv5141089,essv5132955,essv5134770,essv5160830,essv5065257,essv5031649,essv5058648,essv5003164 M 1184 19 0 "" NA18509,NA19044,NA19101,NA19150,NA19151,NA19172,NA19173,NA19197,NA19309,NA19376,NA19448,NA19452,NA19900,NA19902,NA20301,NA20342,NA20343,NA21647,NA21739 dgv1032e1 18 55803729 55838153 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12122,esv1402 M 271 0 0 "" NA19173 dgv380n27 18 55804734 55814159 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458091,nsv458090 M 1557 2 0 "" HGDP00937,HGDP01416 nsv817796 18 55804734 55814159 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416604,nssv1416606 M 112 2 0 "" NA19172,NA19173 nsv518068 18 55847024 55858970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695481 S 2026 0 1 "" nsv515954 18 55876168 55884408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678273,nssv682677,nssv665440,nssv657395,nssv682804 M 2026 0 5 "" nsv833665 18 55884092 56063744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454046 S 95 1 0 "" nsv458092 18 55890778 56445686 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535130 S 1557 0 1 MC4R 1782681294_A nsv2328 18 55950201 55981400 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10164 S 9 1 0 "" NA18956 nsv833666 18 55969123 56149433 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454047 S 95 0 1 "" esv267575 18 55976588 55976692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512968,essv2499955,essv2496066,essv2503528 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18547,NA18558,NA18603,NA18947 nsv437825 18 56066949 56077242 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467706 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 esv2421922 18 56067532 56075469 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132766,essv5045144,essv5015607,essv5043000,essv5097522,essv5093198,essv5012851,essv5088734,essv5154900,essv5119937,essv5137107,essv5003703,essv5086546,essv5036070,essv5104382,essv5005520,essv5023220,essv5030199,essv5114263 M 1184 0 19 "" NA18505,NA18870,NA19140,NA19142,NA19182,NA19198,NA19214,NA19215,NA19318,NA19319,NA19448,NA20289,NA20290,NA21363,NA21473,NA21520,NA21608,NA21613,NA21614 nsv436240 18 56067675 56076233 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465651 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28426 18 56068034 56076708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16575 S 451 0 1 "" NA18505 nsv442753 18 56068921 56073194 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517595 18 56069015 56073506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662530,nssv671640,nssv672049,nssv652466,nssv684754,nssv673180,nssv658210,nssv687292,nssv692328,nssv658690,nssv675933,nssv684023 M 2026 0 12 "" nsv514876 18 56069040 56072776 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628315 S 1414 0 1 "" nsv438293 18 56072413 56074460 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470720,nssv470721 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19140,NA19142 dgv3421n71 18 56077719 56160406 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909673,nsv909672 M 6533 0 2 "" IS31373,IS35181 nsv470421 18 56094405 56125900 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547086,nssv547087 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863,HGDP00876 nsv2329 18 56134841 56148670 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9550 S 9 1 0 "" NA18507 nsv522392 18 56206085 56209691 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695172 S 2026 1 0 "" nsv909674 18 56230239 56271506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579339,nssv1536552 M 6533 0 2 "" IS35083,MS12827 dgv3422n71 18 56245154 56278445 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909676,nsv909675 M 6533 0 3 "" IS40874,IS41263,SP57449 dgv1033e1 18 56251349 56278547 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18509,esv1016 M 271 0 0 "" NA12763 dgv381n27 18 56251779 56271952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458093,nsv458094 M 1557 0 2 "" 1780862074_A,NINDS_56 nsv524099 18 56251779 56281356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699974 S 2026 0 1 "" nsv527826 18 56256487 56256684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704322 S 2026 0 1 "" esv2421987 18 56267422 56272211 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057706,essv5009750,essv5149050,essv5151398,essv5135489,essv5001948,essv5110319,essv5130963,essv5004859,essv5140861,essv5118604,essv5013637,essv5146800,essv5042147,essv5157052,essv5125236,essv5040930,essv5144731,essv5117852,essv5065814,essv5045193,essv5030006,essv5062013,essv5068040,essv5103541,essv5114988,essv5105463,essv5047334,essv5095072,essv5145783,essv5037657,essv5052876,essv5025097,essv5069945 M 1184 0 34 "" NA12763,NA18924,NA18925,NA19046,NA19117,NA19174,NA19209,NA19334,NA19359,NA19375,NA19393,NA19404,NA20792,NA20808,NA21307,NA21344,NA21414,NA21435,NA21448,NA21453,NA21455,NA21493,NA21494,NA21510,NA21513,NA21514,NA21614,NA21616,NA21617,NA21686,NA21717,NA21718,NA21740,NA21825 nsv517625 18 56268102 56271952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671123,nssv666899,nssv652579,nssv669193,nssv674307,nssv674904,nssv672623,nssv671847,nssv682061,nssv686911,nssv682094,nssv665148 M 2026 0 12 "" nsv522004 18 56268102 56281356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694774 S 2026 0 1 "" nsv527291 18 56290954 56293022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703706 S 2026 0 1 "" nsv909677 18 56305330 56334911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566285 S 6533 0 1 "" IS30635 esv275161 18 56306642 56312935 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585210 S 1250 0 1 "" nsv909678 18 56319999 56379062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569109 S 6533 0 1 "" IS31419 esv2286886 18 56344282 56344691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716563 S 1 0 1 "" NA18507 nsv909679 18 56366682 56434182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588069 S 6533 1 0 "" IS38151 nsv909680 18 56372151 56442459 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556664 S 6533 0 1 "" MS22104 nsv522707 18 56379691 56467325 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706119 S 2026 1 0 "" esv26545 18 56381511 56384324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19149 S 451 0 1 "" NA19190 nsv520502 18 56418823 56461323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686354,nssv705748,nssv671891,nssv686383,nssv687003 M 2026 5 0 "" nsv458095 18 56423793 56467506 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535133 S 1557 1 0 "" 1782681110_A esv271164 18 56452045 56452230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511397,essv2507948,essv2505493,essv2512233,essv2513218,essv2495363,essv2510370,essv2504256,essv2503636,essv2499565,essv2513132 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA10847,NA11920,NA12003,NA12154,NA12155,NA12249,NA12287,NA12414,NA18505 dgv3423n71 18 56485987 56745169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909682,nsv909681 M 6533 0 2 "" IS35181,MS10287 nsv2330 18 56543756 56588977 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7409 S 9 0 1 "" NA12156 nsv909683 18 56578946 56779344 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548811 S 6533 1 0 "" MS17878 esv271315 18 56604958 56605289 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2554321,essv2551686,essv2538880,essv2566790,essv2556428,essv2555298,essv2575408,essv2538666,essv2572767,essv2549699 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA18504,NA18519,NA18853,NA18871,NA18943,NA19099,NA19108,NA19143,NA19225 nsv909684 18 56606345 56779344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574457 S 6533 0 1 "" IS33575 esv22676 18 56643089 56643553 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17732 S 451 1 0 "" NA18523 nsv828256 18 56789932 56790550 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432544 S 31 1 0 "" AK20 nsv833667 18 56798880 56930859 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454048 S 95 0 1 "" nsv828257 18 56822349 56823874 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426232 S 31 1 0 "" AK4 esv25653 18 56823209 56823716 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16798 S 451 8 0 "" NA11995,NA12044,NA12156,NA12749,NA18909,NA19129,NA19147,NA19225 nsv821214 18 56823209 56823716 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419997 S 1 0 1 "" NA10851 esv1073972 18 56841973 56841973 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353707 S 2 1 0 "" HuRef nsv131210 18 56842004 56842004 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149788 M 24 "" nsv833668 18 56865703 57039356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454049 S 95 1 0 "" esv270306 18 56903972 56909989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516724 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv270951 18 56925942 56926282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546580,essv2547519,essv2557232,essv2532363,essv2569289,essv2578769,essv2536957,essv2527126,essv2561330,essv2562934,essv2523682,essv2542918,essv2540656,essv2565021,essv2561168,essv2566246,essv2530931,essv2567662,essv2570278,essv2563595,essv2553151,essv2559140,essv2566905,essv2541884,essv2543574,essv2556213,essv2527998,essv2562335,essv2539317,essv2533819,essv2533729,essv2567174,essv2573832,essv2557596,essv2555889,essv2522429,essv2573614,essv2571882,essv2526964,essv2529750,essv2575665,essv2575005,essv2538796,essv2526640,essv2574620,essv2545064,essv2560193,essv2549932,essv2551529 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12717,NA18501,NA18505,NA18508,NA18510,NA18517,NA18522,NA18523,NA18532,NA18537,NA18550,NA18552,NA18558,NA18562,NA18572,NA18573,NA18577,NA18593,NA18603,NA18605,NA18638,NA18853,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18944,NA18947,NA18951,NA18953,NA18956,NA18960,NA18964,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19138,NA19172,NA19190,NA19225,NA19257 nsv833669 18 56994025 57140896 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454050,nssv1454051 M 95 1 1 "" nsv909685 18 57035566 57093437 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539956 S 6533 1 0 "" MS14630 nsv510460 18 57093708 57099708 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621456,nssv624197,nssv622280 M 4 0 3 "" NA10860,NA15510,NA18994 nsv521582 18 57177220 57179748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698197 S 2026 0 1 "" esv1603313 18 57314242 57314481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667278 S 2 0 1 CDH20 HuRef nsv524346 18 57317521 57319125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700254 S 2026 0 1 CDH20 esv271335 18 57319495 57319822 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542437,essv2556692,essv2531975,essv2535336,essv2559477,essv2519938,essv2552651,essv2562210,essv2545121,essv2537968,essv2532972,essv2554390,essv2525097,essv2563251 M 157 14 0 Samples from several populations that are part of the HapMap project. CDH20 NA07000,NA07051,NA07346,NA07357,NA10847,NA11919,NA11994,NA12006,NA12249,NA12776,NA12815,NA18502,NA18909,NA19172 nsv909686 18 57325739 57417351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548812 S 6533 1 0 CDH20 MS17878 nsv828258 18 57382482 57383075 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426233 S 31 1 0 "" AK4 esv2565501 18 57399017 57399217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235008 S 1 0 1 "" NA18507 esv275064 18 57433136 57435833 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585930 S 1250 0 1 "" esv2110273 18 57434655 57435281 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934818 S 1 0 1 "" NA18507 dgv70n6 18 57434843 57435091 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv130943,nsv131625 M 24 "" esv1010990 18 57434846 57435081 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576275 S 3 0 1 "" HuRef esv1259501 18 57434855 57435091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243957 S 2 0 1 "" HuRef esv33325 18 57446374 57486452 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98201 S 51 0 1 "" 21772 esv2448037 18 57462573 57463475 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378429 S 1 1 0 "" NA18507 nsv513500 18 57462935 57463294 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625910 S 1 1 0 "" 1 nsv909687 18 57465930 57537499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551985 S 6533 0 1 "" MS19068 nsv507874 18 57534996 57540996 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617939 S 4 1 0 "" CHM esv267737 18 57617319 57617520 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510143,essv2511058,essv2499337,essv2508081,essv2513176,essv2508516,essv2504384 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11829,NA11831,NA11994,NA12045,NA12249,NA12717 nsv833671 18 57740254 57928625 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454053,nssv1454054,nssv1454052 M 95 1 2 PIGN esv1110294 18 57788915 57788969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853740 S 2 0 1 "" HuRef esv2481572 18 57822886 57825824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172059 S 1 0 1 "" NA18507 nsv512538 18 57823530 57825199 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625142 S 1 0 1 "" 1 esv2082808 18 57823580 57825382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639263 S 1 0 1 "" NA18507 nsv507875 18 57855664 57861664 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623247 S 4 1 0 "" NA18994 esv22850 18 57857651 57858531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16239 S 451 0 5 "" NA12044,NA12156,NA12749,NA12828,NA15510 esv272602 18 57864681 57865017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581899,essv2582810,essv2584325,essv2584724,essv2583882 M 7 5 0 Samples from several populations that are part of the HapMap project. PIGN NA12878,NA12892,NA19238,NA19239,NA19240 esv271938 18 57864684 57865022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557805,essv2521355,essv2542495,essv2550516,essv2550351,essv2535266,essv2520447,essv2547176,essv2558547,essv2577847,essv2576428,essv2520188,essv2537669,essv2546659,essv2552663,essv2550204,essv2523806,essv2524642,essv2564963,essv2549255,essv2519585,essv2566255,essv2531075,essv2532680,essv2541577,essv2570019,essv2553230,essv2535871,essv2573021,essv2534306,essv2522517,essv2573469,essv2525624,essv2575087,essv2524055,essv2530197,essv2571410,essv2545787,essv2574483,essv2548951,essv2532976,essv2525156 M 157 42 0 Samples from several populations that are part of the HapMap project. PIGN NA07037,NA07051,NA07357,NA10851,NA11894,NA11919,NA12155,NA12234,NA12249,NA12716,NA12717,NA12750,NA12761,NA12814,NA12815,NA12878,NA12892,NA18502,NA18511,NA18537,NA18555,NA18558,NA18564,NA18566,NA18572,NA18573,NA18576,NA18592,NA18593,NA18605,NA18608,NA18942,NA18959,NA18960,NA18964,NA18980,NA19102,NA19129,NA19141,NA19238,NA19239,NA19240 esv5079 18 57879588 57879835 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27520 S 1 0 1 Single Asian sample YH PIGN YH nsv130647 18 57879650 57879760 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149225 M 24 PIGN esv33793 18 57880267 57880877 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99519 S 51 0 1 PIGN 22335 nsv131648 18 57943368 57943453 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150226 M 24 PIGN nsv819755 18 58083025 58083343 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418637 S 2 0 1 KIAA1468 AK1 esv997466 18 58139677 58140211 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586747 S 3 0 1 "" HuRef nsv2331 18 58249781 58283354 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4329 S 9 1 0 "" NA12878 nsv828259 18 58338323 58345342 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434068 S 31 1 0 ZCCHC2 NA18526 esv26655 18 58340255 58345128 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14336 S 451 0 1 ZCCHC2 NA12489 nsv2333 18 58362063 58407635 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6763 S 9 0 1 ZCCHC2 NA12156 nsv524459 18 58396986 58438386 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700393 S 2026 0 1 "" esv2445147 18 58398400 58400497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190480 S 1 0 1 "" NA18507 esv22252 18 58398680 58400119 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14128 S 451 3 1 "" NA07037,NA07045,NA12239,NA15510 nsv512539 18 58398689 58399984 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625144 S 1 0 1 "" 1 nsv458097 18 58405769 58442024 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535135 S 1557 0 1 "" NINDS_61 esv2384564 18 58626338 58626768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566718 S 1 0 1 PHLPP1 NA18507 esv267732 18 58675469 58675554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514580 S 157 1 0 Samples from several populations that are part of the HapMap project. PHLPP1 NA11840 nsv525821 18 58698041 58744472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702007 S 2026 0 1 PHLPP1 esv268204 18 58837055 58837140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517404,essv2516581,essv2517969,essv2517812,essv2518279,essv2519458 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11918,NA12814,NA12872,NA12878,NA19240 esv272790 18 58837055 58837140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581597,essv2581176 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv2282697 18 58881710 58882130 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689017 S 1 0 1 "" NA18507 esv2533175 18 58910001 58910210 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312299 S 1 0 1 "" NA18507 esv4627 18 58921448 58921887 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27068 S 1 0 1 Single Asian sample YH "" YH esv2086747 18 58963385 58963812 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966295 S 1 0 1 BCL2 NA18507 dgv3424n71 18 58974534 59025474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909690,nsv909688 M 6533 0 2 BCL2 MS12861,MS24528 nsv909689 18 58983021 59018003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565397,nssv1556529,nssv1600081,nssv1557776,nssv1560541,nssv1601257,nssv1554462 M 6533 0 7 BCL2 IS30409,IS41838,IS41997,MS20813,MS22103,MS22858,MS24529 esv2571485 18 58990677 58992219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353586 S 1 0 1 BCL2 NA18507 esv1611780 18 59017097 59017097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212310 S 2 1 0 BCL2 HuRef nsv2334 18 59055703 59090712 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1417 S 9 1 0 BCL2 NA19240 esv6445 18 59083077 59083177 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28886 S 1 1 0 BCL2 SJK esv1004886 18 59083116 59083120 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571885 S 3 1 0 BCL2 HuRef nsv131879 18 59083119 59083119 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150457 M 24 BCL2 esv1187842 18 59083121 59083121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656441 S 2 1 0 BCL2 HuRef esv270155 18 59159296 59159611 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509934,essv2506873,essv2496950 M 157 3 0 Samples from several populations that are part of the HapMap project. KDSR NA18508,NA19102,NA19190 esv1455992 18 59179250 59179250 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239652 S 2 1 0 KDSR HuRef esv1620605 18 59288188 59288188 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347674 S 2 1 0 "" HuRef esv1728233 18 59288223 59288223 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617901 S 2 1 0 "" HuRef nsv131597 18 59291511 59300913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150175 M 24 SERPINB5 esv26779 18 59322895 59325120 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17555 S 451 0 2 SERPINB5 NA11993,NA11995 nsv2335 18 59348557 59352910 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5707 S 9 1 0 "" NA19129 nsv833672 18 59438659 59590695 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454056,nssv1454055,nssv1454057 M 95 3 0 SERPINB11,SERPINB3,SERPINB4,SERPINB7 esv2313855 18 59453268 59471418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665780 S 1 0 1 SERPINB4 NA18507 esv21739 18 59533336 60096344 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18241,esv16044 M 451 2 0 HMSD,LINC00305,LOC284294,LOC400654,SERPINB10,SERPINB11,SERPINB2,SERPINB7,SERPINB8 NA11995,NA19114 esv1109412 18 59604355 59604355 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221884 S 2 1 0 SERPINB7 HuRef dgv3425n71 18 59627742 59667720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909692,nsv909691 M 6533 0 6 "" IS30081,IS35025,IS36465,IS40272,IS41785,IS41868 nsv909693 18 59660266 59796144 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548813 S 6533 1 0 HMSD,SERPINB10,SERPINB2,SERPINB8 MS17878 nsv525889 18 59663346 59766324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702092 S 2026 0 1 SERPINB10,SERPINB2 dgv1034e1 18 59700021 59742065 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1247,essv13307,essv7976,essv14019,essv14263 M 271 0 0 SERPINB10,SERPINB2 NA19100,NA19202,NA19222,NA19240 nsv833673 18 59715286 59915235 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454058 S 95 1 0 HMSD,LINC00305,SERPINB10,SERPINB2,SERPINB8 essv7909 18 59715493 59742040 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SERPINB10,SERPINB2 NA19239 nsv510461 18 59829627 59835627 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618440 S 4 0 1 "" CHM nsv131936 18 59845676 59845779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150514 M 24 "" esv272462 18 59845790 59845875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581304 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv909694 18 59917019 60137564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585406 S 6533 0 1 LINC00305,LOC284294,LOC400654 IS37443 nsv909695 18 59917926 60008045 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548814 S 6533 1 0 LINC00305,LOC284294 MS17878 nsv131608 18 59961754 59961851 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150186 M 24 LINC00305,LOC284294 nsv828260 18 60016673 60022498 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436242 S 31 0 1 LOC284294 NA18566 esv991229 18 60122883 60123093 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567723 S 3 0 1 LOC284294 HuRef esv2422190 18 60125616 60303316 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161413 S 181 1 0 LOC284294 ND04498 esv23334 18 60186868 60188223 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13990 S 451 0 5 LOC284294 NA18858,NA18861,NA18907,NA18916,NA19257 nsv527008 18 60192977 60193688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703383 S 2026 0 1 LOC284294 nsv909696 18 60237488 60332964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591773,nssv1567704 M 6533 0 2 LOC284294 IS31137,IS39011 nsv909697 18 60237488 61674951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540984 S 6533 0 1 CDH7,LOC284294 MS15118 esv5834 18 60265359 60268695 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28275 S 1 0 0 "" SJK nsv458099 18 60266055 60421595 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535136 S 1557 1 0 "" NINDS_256 nsv2336 18 60288113 60322180 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7410 S 9 1 0 "" NA12156 esv1728486 18 60309916 60309916 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663071 S 2 1 0 "" HuRef nsv909698 18 60317371 60362886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519662 S 6533 0 1 "" SP50101 nsv909699 18 60321038 60451748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588070 S 6533 1 0 "" IS38151 esv2490465 18 60324272 60325293 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278885 S 1 1 0 "" NA18507 esv270900 18 60324745 60325082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557985,essv2565563,essv2575805,essv2541026,essv2546315,essv2521424,essv2526301,essv2536664,essv2544179,essv2570969,essv2556571,essv2568417,essv2523185,essv2577573,essv2570358,essv2548222,essv2521495,essv2576571,essv2550532,essv2535472,essv2554089,essv2547401,essv2529301,essv2558612,essv2577703,essv2553908,essv2559476,essv2576474,essv2564144,essv2554998,essv2530760,essv2562116,essv2537484,essv2528459,essv2546987,essv2530514,essv2520953,essv2557378,essv2556998,essv2552525,essv2551931,essv2532055,essv2562562,essv2569509,essv2578666,essv2536974,essv2538860,essv2527099,essv2561523,essv2562814,essv2523871,essv2538308,essv2542886,essv2565034,essv2534860,essv2561075,essv2539529,essv2549424,essv2519721,essv2560062,essv2566068,essv2532587,essv2567750,essv2528851,essv2567302,essv2541837,essv2570002,essv2563872,essv2553427,essv2572349,essv2559309,essv2566699,essv2542078,essv2543626,essv2556140,essv2527732,essv2562543,essv2539269,essv2534125,essv2578227,essv2555445,essv2533477,essv2555792,essv2567070,essv2529986,essv2573766,essv2527451,essv2534299,essv2522629,essv2531368,essv2573692,essv2543228,essv2571950,essv2526990,essv2529724,essv2526467,essv2524091,essv2574641,essv2530317,essv2568712,essv2545013,essv2560361,essv2549894,essv2545961,essv2574220,essv2551613,essv2548660,essv2533015,essv2554782,essv2547847,essv2525103,essv2563105 M 157 112 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA11995,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18532,NA18537,NA18547,NA18550,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19093,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv273776 18 60324745 60325082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581805,essv2582490,essv2583276,essv2584479,essv2583460 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv1030229 18 60324778 60324778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862886 S 2 1 0 "" HuRef esv22751 18 60332717 60344437 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21273 S 451 1 0 "" NA12239 nsv817797 18 60332964 60342805 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418410,nssv1418409 M 112 2 0 "" NA10847,NA12239 esv2444699 18 60361998 60365148 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372737 S 1 0 1 "" NA18507 nsv909700 18 60470234 60531125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548040 S 6533 0 1 "" MS17680 nsv909701 18 60534163 60636711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548815 S 6533 1 0 "" MS17878 esv2161235 18 60536560 60537267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669267 S 1 0 1 "" NA18507 esv2988 18 60536701 60537151 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25429 S 1 0 1 Single Asian sample YH "" YH esv993660 18 60536750 60537063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585491 S 3 0 1 "" HuRef esv1513460 18 60536762 60537076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103127 S 2 0 1 "" HuRef nsv2337 18 60537805 60571091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7411 S 9 0 1 "" NA12156 nsv909702 18 60554657 60613920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561837 S 6533 0 1 "" MS25250 dgv1035e1 18 60558805 60600790 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24218,esv1338 M 271 0 0 "" NA12144 nsv909703 18 60560977 60600588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588071 S 6533 1 0 "" IS38151 esv1683410 18 60562132 60562132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737185 S 2 1 0 "" HuRef nsv507876 18 60567877 60573877 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619206,nssv620631 M 4 2 0 "" NA10860,NA15510 nsv828261 18 60573149 60573700 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426234 S 31 1 0 "" AK4 esv28133 18 60583646 60584276 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21393 S 451 0 2 "" NA12828,NA18858 nsv821069 18 60583646 60584276 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419998 S 1 0 1 "" NA10851 nsv909704 18 60616020 60676752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560677 S 6533 0 1 "" MS24624 dgv3426n71 18 60655903 60755608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909707,nsv909705 M 6533 0 2 "" IS30311,IS33786 nsv909706 18 60655903 60765964 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588072 S 6533 1 0 "" IS38151 nsv470422 18 60676752 60725765 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547088 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00947 nsv828262 18 60717111 60717708 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426235 S 31 1 0 "" AK4 esv270830 18 60717623 60717985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502509,essv2501142,essv2503289,essv2497332,essv2512950,essv2494584,essv2497203,essv2497808,essv2499931,essv2506368,essv2494440,essv2507608,essv2496127,essv2512850,essv2504894,essv2503132,essv2503473,essv2502389,essv2506702 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18516,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18562,NA18566,NA18572,NA18576,NA18603,NA18609,NA18942,NA18943,NA18947,NA18948,NA19108 nsv909708 18 60747007 61106349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504186 S 6533 0 1 "" SP52274 esv1010474 18 60780419 60780419 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574642 S 3 1 0 "" HuRef nsv131629 18 60780421 60780421 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150207 M 24 "" esv1775403 18 60780482 60780482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165175 S 2 1 0 "" HuRef nsv132171 18 60780493 60780493 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150749 M 24 "" nsv131315 18 60788258 60788258 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149893 M 24 "" nsv909709 18 60871166 60996941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588073 S 6533 1 0 "" IS38151 esv267567 18 60878321 60878406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516136 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv828263 18 60894146 60894962 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426238 S 31 1 0 "" AK4 dgv3427n71 18 60900483 61004431 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909711,nsv909710 M 6533 0 2 "" IS40492,MS11002 nsv828265 18 60905162 60905790 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426239 S 31 1 0 "" AK4 nsv2338 18 60950747 60980361 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1418 S 9 1 0 "" NA19240 nsv909712 18 60958616 61036648 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593721 S 6533 1 0 "" IS39503 nsv507877 18 61004596 61010596 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620632,nssv619207,nssv623248,nssv617940 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1347992 18 61035108 61035108 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717818 S 2 1 0 "" HuRef nsv525667 18 61036648 61044850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701823 S 2026 0 1 "" nsv909713 18 61108446 61182216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541230 S 6533 0 1 "" MS15199 nsv909714 18 61136862 61482789 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504187 S 6533 0 1 "" SP52274 nsv909715 18 61142545 61182216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574307 S 6533 0 1 "" IS33533 esv1010811 18 61147825 61147905 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572946 S 3 0 1 "" HuRef esv1620291 18 61147826 61147907 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063955 S 2 0 1 "" HuRef nsv909716 18 61218634 61324314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601069 S 6533 0 1 "" IS41964 nsv470423 18 61233578 61329341 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547089 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00599 nsv510744 18 61245995 61265974 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618956 S 4 0 1 "" NA10860 nsv833674 18 61285329 61469771 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454059 S 95 1 0 "" nsv131801 18 61300318 61302041 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150379 M 24 "" nsv909717 18 61329341 61364137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588074 S 6533 1 0 "" IS38151 esv269345 18 61345018 61345103 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513956 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv437826 18 61350545 61358853 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467707 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19161 nsv9632 18 61351102 61359126 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27175,nssv25789,nssv25512 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA19132,NA19144,NA19173 esv997338 18 61351404 61351466 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564650 S 3 1 0 "" HuRef dgv75e180 18 61351444 61358131 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990681,esv993460 M 3 1 0 "" HuRef esv21687 18 61351788 61358235 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9772 S 451 1 2 "" NA06985,NA18916,NA19108 nsv438294 18 61352438 61356682 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470722,nssv470723 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19159,NA19161 esv2421408 18 61352708 61358253 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5086292,essv5050863,essv5029937,essv5108741,essv5129612,essv5036763,essv5092224,essv5070080,essv5129182,essv5005004,essv5016436,essv5044615,essv5012149,essv5072833,essv5128965,essv5016412,essv5010437,essv5059912,essv5074651,essv5128063,essv5041832,essv5084295,essv5114257,essv5129542,essv5056837,essv5033464,essv5095158,essv5009441,essv5130124,essv5012691,essv5160764,essv5065659,essv5029633,essv5087162,essv5014751,essv5032276,essv5160665,essv5033470,essv5068812,essv5024640,essv5038871,essv5068274,essv5120710,essv5089961,essv5150936,essv5086578,essv5066282,essv5009816,essv5044077,essv5092420,essv5040114,essv5081975,essv5153721,essv5032507,essv5028544,essv5084709,essv5129281,essv5132297,essv5062402,essv5059139,essv5134885,essv5116001,essv5062461,essv5065201,essv5007902,essv5072094,essv5119811,essv5054696,essv5137451,essv5119054,essv5002338,essv5050714,essv5050224,essv5091280,essv5116287,essv5014613,essv5009146,essv5110542,essv5014109,essv5042016,essv5062611,essv5011944,essv5151608,essv5105628,essv5077644,essv5099614,essv5034060,essv5076081,essv5152114,essv5020288,essv5114351,essv5028571,essv5035787,essv5026117,essv5093738,essv5020086,essv5117291,essv5027234,essv5058183,essv5056980,essv5072937,essv5145612 M 1184 40 62 "" NA06985,NA06991,NA10850,NA10865,NA11891,NA11992,NA12146,NA12248,NA12336,NA12342,NA12343,NA12708,NA12775,NA12875,NA18152,NA18497,NA18498,NA18509,NA18510,NA18511,NA18515,NA18516,NA18518,NA18519,NA18867,NA18869,NA18870,NA18916,NA18930,NA18933,NA18934,NA18935,NA19108,NA19109,NA19127,NA19131,NA19132,NA19144,NA19146,NA19148,NA19159,NA19161,NA19172,NA19173,NA19189,NA19206,NA19208,NA19209,NA19211,NA19235,NA19236,NA19256,NA19258,NA19311,NA19317,NA19334,NA19446,NA19649,NA19650,NA19708,NA19723,NA19724,NA19776,NA19778,NA19788,NA19789,NA19834,NA19836,NA19909,NA19914,NA19915,NA19919,NA20276,NA20277,NA20319,NA20528,NA20543,NA20753,NA20756,NA20765,NA20858,NA20859,NA20871,NA20876,NA20885,NA20899,NA20902,NA21086,NA21092,NA21098,NA21116,NA21117,NA21118,NA21352,NA21357,NA21371,NA21509,NA21517,NA21521,NA21577,NA21599,NA21826 esv1005054 18 61354958 61355680 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565452 S 3 1 0 "" HuRef esv1001583 18 61356015 61356480 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563802 S 3 1 0 "" HuRef esv994307 18 61358007 61358450 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564391 S 3 1 0 "" HuRef esv1968370 18 61359017 61359493 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673751 S 1 0 1 "" NA18507 nsv130883 18 61359210 61359304 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149461 M 24 "" nsv518000 18 61364137 61426221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695412 S 2026 0 1 "" nsv909718 18 61390994 61479028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591311 S 6533 0 1 "" IS38671 nsv833675 18 61450050 61625687 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454060 S 95 1 0 CDH7 nsv512540 18 61455710 61458430 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625145 S 1 0 1 "" 1 nsv828266 18 61455810 61456700 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430452,nssv1431037,nssv1435512,nssv1436243 M 31 0 4 "" NA18566,NA18942,NA18947,NA18968 nsv518272 18 61521202 61545248 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695704 S 2026 1 0 "" esv22448 18 61527174 61530594 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19917 S 451 0 1 "" NA19225 nsv909719 18 61533416 61819870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579890 S 6533 0 1 CDH7 IS35181 nsv458102 18 61533416 63820684 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535137 S 1557 0 1 CDH19,CDH7,DSEL,LOC643542 1780862576_A nsv909720 18 61612618 61692026 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548816 S 6533 1 0 CDH7 MS17878 esv268998 18 61632557 61632863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511019,essv2512539,essv2493631,essv2505218,essv2513276 M 157 5 0 Samples from several populations that are part of the HapMap project. CDH7 NA11831,NA18489,NA18517,NA18853,NA18907 esv269715 18 61638230 61638563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558199,essv2565886,essv2576001,essv2540729,essv2546190,essv2521317,essv2525955,essv2542574,essv2536736,essv2522669,essv2544174,essv2571012,essv2556751,essv2568308,essv2545684,essv2531922,essv2577448,essv2570628,essv2521468,essv2576744,essv2550650,essv2525415,essv2550429,essv2535341,essv2553955,essv2544291,essv2552150,essv2520283,essv2547561,essv2529135,essv2558308,essv2564513,essv2578081,essv2553523,essv2559717,essv2565255,essv2519996,essv2564113,essv2554894,essv2530608,essv2562044,essv2537237,essv2528344,essv2547100,essv2520747,essv2557396,essv2557253,essv2552732,essv2551655,essv2569563,essv2578802,essv2550071,essv2536929,essv2538963,essv2527270,essv2561550,essv2544654,essv2523681,essv2552757,essv2541348,essv2538438,essv2542701,essv2540308,essv2524459,essv2565155,essv2534566,essv2539554,essv2549462,essv2519805,essv2560003,essv2522183,essv2565988,essv2531254,essv2532776,essv2567727,essv2528743,essv2567542,essv2541790,essv2569973,essv2563875,essv2553131,essv2535807,essv2572396,essv2559254,essv2566932,essv2550921,essv2569146,essv2556250,essv2527886,essv2562185,essv2539348,essv2578344,essv2572951,essv2555183,essv2533804,essv2555624,essv2567224,essv2566661,essv2529859,essv2527725,essv2555799,essv2522388,essv2531404,essv2573573,essv2543289,essv2577085,essv2572039,essv2526780,essv2529613,essv2575440,essv2575309,essv2538534,essv2526386,essv2560555,essv2524284,essv2560895,essv2574631,essv2530265,essv2572672,essv2568636,essv2545012,essv2571419,essv2545776,essv2574146,essv2535971,essv2537867,essv2548636,essv2533402,essv2554541,essv2547633,essv2525049,essv2563378 M 157 132 0 Samples from several populations that are part of the HapMap project. CDH7 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19238,NA19239,NA19240 esv274112 18 61638230 61638563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582187,essv2582430,essv2583014,essv2584030,essv2584405,essv2583828 M 7 6 0 Samples from several populations that are part of the HapMap project. CDH7 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1064517 18 61638267 61638267 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699863 S 2 1 0 CDH7 HuRef nsv828267 18 61643512 61645925 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426240 S 31 1 0 CDH7 AK4 nsv833676 18 61654238 61877770 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454061,nssv1454062 M 95 2 0 CDH7 esv2521787 18 61683593 61685254 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274708 S 1 0 1 CDH7 NA18507 esv1954972 18 61684032 61684784 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557411 S 1 0 1 CDH7 NA18507 esv3413 18 61684170 61684664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25854 S 1 0 1 Single Asian sample YH CDH7 YH esv1005846 18 61684228 61684571 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576704 S 3 0 1 CDH7 HuRef esv1389809 18 61684234 61684578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253119 S 2 0 1 CDH7 HuRef esv6192 18 61684238 61684558 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28633 S 1 0 1 CDH7 SJK esv1000701 18 61684610 61685218 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563987 S 3 0 1 CDH7 HuRef nsv510462 18 61698720 61704720 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624198,nssv622281,nssv621457 M 4 0 3 CDH7 NA10860,NA15510,NA18994 nsv909721 18 61704561 61783932 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520334 S 6533 1 0 "" SP50825 nsv909722 18 61722350 61768571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548817 S 6533 1 0 "" MS17878 nsv909723 18 61739825 61776985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594238 S 6533 1 0 "" IS39721 nsv909724 18 61745163 61819870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580146 S 6533 0 1 "" IS35229 esv995523 18 61768283 61768283 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572216 S 3 1 0 "" HuRef esv1401339 18 61768284 61768284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246124 S 2 1 0 "" HuRef nsv527801 18 61782532 61793058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704294 S 2026 0 1 "" esv26710 18 61786443 61791218 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18883 S 451 0 5 "" NA18502,NA18907,NA18916,NA19108,NA19147 nsv442444 18 61788030 61791107 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421604 18 61788031 61791104 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112482,essv5077860,essv5094748,essv5059768,essv5152035,essv5130598,essv5069730,essv5153847,essv5102712,essv5125311,essv5158946,essv5015943,essv5103299,essv5045270,essv5130039,essv5047752,essv5092033,essv5101513,essv5123057,essv5153457,essv5123655,essv5080421,essv5037678,essv5102304,essv5071995,essv5083419,essv5097369,essv5115016,essv5149527,essv5021535,essv5077216,essv5142097,essv5144990,essv5010475,essv5119301,essv5100070,essv5109021,essv5055961,essv5058865,essv5026576,essv5027353,essv5121605,essv5103325,essv5021057,essv5060868,essv5069350,essv5032552,essv5051846,essv5148669,essv5158071,essv5107441,essv5030253,essv5010706,essv5146852,essv5015850,essv5054422,essv5060705,essv5073179,essv5012555,essv5139063,essv5079590,essv5019883,essv5145808,essv5081153,essv5159419 M 1184 0 65 "" NA18500,NA18519,NA18867,NA18869,NA18870,NA18916,NA18923,NA18924,NA18925,NA18930,NA19044,NA19096,NA19097,NA19101,NA19103,NA19108,NA19109,NA19113,NA19115,NA19117,NA19121,NA19122,NA19123,NA19137,NA19139,NA19141,NA19147,NA19198,NA19310,NA19350,NA19373,NA19374,NA19381,NA19382,NA19383,NA19391,NA19396,NA19397,NA19430,NA19438,NA19448,NA19449,NA19462,NA19467,NA19469,NA19703,NA19704,NA19705,NA19835,NA19900,NA19915,NA20291,NA20292,NA20317,NA20335,NA20348,NA20356,NA20358,NA21357,NA21371,NA21509,NA21521,NA21526,NA21634,NA21636 nsv514878 18 61788128 61791096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628316 S 1414 0 1 "" esv272840 18 61812930 61813305 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579115,essv2579390 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268145 18 61812951 61813291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571642,essv2568368,essv2545667,essv2521498,essv2561989,essv2528600,essv2546831,essv2551785,essv2561414,essv2562176,essv2539338,essv2563541 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11840,NA11995,NA12003,NA12144,NA12874,NA12891,NA12892,NA18504,NA18523,NA18909,NA18912 nsv510745 18 61854000 61885150 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620111 S 4 0 1 "" NA15510 nsv2339 18 61858938 61894678 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9852 S 9 0 1 "" NA18507 dgv1036e1 18 61863327 62021348 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4749,essv6039,essv2973,essv2694,essv3473,essv12383,essv20431,essv17608,esv25,essv20964,essv19273,essv14755,essv23065,essv19963,essv24822,essv12634,essv2209,essv10164 M 271 0 0 "" NA07000,NA10830,NA10838,NA12753,NA12801,NA12812,NA12813,NA18500,NA18571,NA18620,NA18960,NA18967,NA18981,NA18992,NA19130,NA19159,NA19238 nsv458103 18 61870387 61907469 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535138 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00668 nsv9633 18 61873334 61883473 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21829,nssv21245,nssv21310,nssv28413,nssv25039,nssv21701,nssv23594,nssv27331,nssv26290 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA12155,NA12740,NA12802,NA12872,NA18572,NA18972,NA19221 esv2541420 18 61873594 61884122 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167779 S 1 0 1 "" NA18507 esv2429529 18 61873983 61883810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252867 S 1 0 1 "" NA18507 dgv21n50 18 61874125 61883787 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512541,nsv511610 M 1 0 1 "" 1 dgv553n67 18 61874507 61883353 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828269,nsv828270,nsv828268 M 31 0 5 "" AK12,AK8,NA18969,NA18972,NA18973 esv2079309 18 61874642 61883514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879698 S 1 0 1 "" NA18507 esv24662 18 61874647 61883655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16632 S 451 0 10 "" NA07037,NA11995,NA12044,NA12287,NA12776,NA12828,NA12878,NA15510,NA19225,NA19257 nsv435692 18 61874764 61885039 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465652 S 2 0 1 "" NA15510 esv2928 18 61874779 61883439 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25369 S 1 0 1 Single Asian sample YH "" YH nsv514879 18 61875020 61883192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628317 S 1414 0 1 "" esv32784 18 61876553 61881250 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100867,essv97066,essv99001,essv99839 M 51 4 0 "" 21656,21817,21938,22086 esv2421790 18 61878472 61881930 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5021885,essv5044310,essv5056040,essv5053576,essv5087273,essv5036635,essv5132714,essv5017032,essv5016841,essv5068615,essv5107570,essv5100428,essv5107521,essv5140770,essv5044613,essv5013621,essv5155964,essv5123428,essv5083747,essv5005162,essv5131795,essv5016357,essv5062992,essv5091149,essv5123643,essv5142703,essv5007596,essv5109928,essv5122753,essv5060951,essv5066970,essv5039000,essv5026787,essv5029400,essv5136876,essv5093933,essv5097021,essv5036415,essv5118174,essv5081824,essv5093456,essv5044754,essv5118893,essv5110945,essv5060978,essv5125452,essv5037243,essv5117173,essv5052059,essv5023016,essv5107379,essv5103419,essv5143882,essv5042704,essv5064379,essv5078862,essv5114712,essv5098433,essv5084141,essv5017478,essv5137984,essv5023076,essv5132987,essv5149112,essv5066736,essv5158095,essv5159594,essv5134617,essv5066256,essv5130997,essv5005604,essv5073167,essv5015437,essv5109376,essv5022673,essv5095107,essv5009926,essv5102619,essv5073372,essv5156059,essv5094387,essv5075320,essv5086088,essv5069032,essv5025840,essv5153729,essv5046719,essv5082455,essv5065683,essv5016716,essv5143855,essv5030447,essv5097844,essv5114108,essv5053294,essv5024070,essv5139917,essv5051538,essv5147352,essv5064646,essv5122876,essv5005036,essv5101820,essv5092653,essv5116167,essv5107650,essv5022545,essv5130979,essv5146658,essv5114097,essv5047843,essv5110129,essv5045151,essv5060649,essv5029672,essv5118683,essv5106803,essv5106062,essv5150301,essv5068102,essv5101675,essv5019634,essv5093583,essv5107771,essv5116818,essv5009473,essv5139268,essv5117175,essv5121575,essv5082051,essv5050980,essv5133936,essv5158801,essv5084542,essv5154131,essv5040107,essv5150063,essv5031593,essv5151424,essv5148865,essv5159964,essv5091470,essv5088611,essv5091916,essv5056001,essv5117574,essv5113597,essv5107264,essv5078846,essv5031934,essv5055698,essv5098167,essv5134678,essv5058959,essv5152694,essv5130230,essv5023781,essv5104284,essv5036461,essv5003565,essv5152901,essv5087277,essv5086699,essv5064129,essv5024942,essv5055713,essv5120320,essv5037831,essv5016584,essv5137266,essv5113190,essv5114290,essv5069841,essv5131810,essv5049587,essv5072215,essv5137620,essv5150142,essv5048496,essv5109833,essv5009026,essv5003041,essv5023485,essv5096403,essv5092109,essv5072198,essv5145758,essv5046428,essv5059700,essv5075587,essv5132303,essv5061697,essv5061449,essv5062877,essv5130497,essv5013625,essv5127070,essv5152853,essv5023054,essv5029478,essv5090556,essv5147826,essv5033469,essv5053071,essv5045183,essv5083515,essv5074791,essv5046835,essv5027715,essv5126562,essv5104664,essv5002771,essv5076772,essv5081438,essv5143511,essv5125373,essv5150772,essv5036605,essv5154973,essv5152979,essv5006224,essv5158704,essv5069908,essv5148112,essv5024699,essv5073028,essv5091008,essv5059337,essv5006584,essv5119337,essv5124910,essv5145992,essv5159349,essv5077702,essv5124248,essv5056996,essv5074982,essv5023325,essv5031636,essv5015291,essv5150040,essv5150877,essv5123663,essv5042474,essv5090102,essv5151756,essv5044032,essv5085731,essv5095849,essv5082999,essv5097761,essv5025510,essv5010241,essv5155644,essv5032442,essv5124843,essv5071451,essv5038409,essv5063720,essv5067029,essv5122718,essv5022158,essv5151203,essv5016594,essv5152954,essv5081499,essv5039060,essv5132155,essv5002434,essv5040484,essv5106452,essv5074267,essv5069794,essv5115517,essv5053004,essv5069141,essv5123053,essv5136543,essv5073199,essv5124613,essv5124844,essv5038081,essv5124400,essv5080349,essv5034978,essv5152881,essv5159434,essv5084764,essv5035042,essv5086296,essv5068358,essv5044551,essv5025228,essv5040822,essv5148138,essv5054932,essv5078702,essv5108977,essv5015070,essv5079415,essv5103673,essv5015600,essv5073691,essv5019977,essv5151635,essv5119174,essv5016984,essv5085880,essv5030344,essv5140891,essv5059167,essv5091064,essv5018762,essv5023131,essv5039126,essv5067861,essv5155864,essv5104812,essv5124094,essv5146481,essv5034547,essv5070313,essv5035917,essv5126823,essv5124907,essv5159868,essv5015173,essv5133452,essv5003457,essv5129664,essv5104660,essv5110965,essv5053161,essv5040884,essv5094540,essv5114003,essv5053843,essv5098501,essv5151667,essv5021588,essv5076919,essv5073170,essv5035873,essv5126252,essv5106269,essv5107838,essv5011045,essv5138691,essv5079406,essv5044809,essv5096387,essv5035940,essv5049027,essv5035058,essv5150224,essv5134249,essv5084744,essv5115647,essv5148192,essv5029481,essv5010690,essv5158408,essv5009203,essv5144336,essv5062494,essv5095604,essv5070824,essv5009584,essv5100734,essv5080552,essv5041485,essv5113743,essv5026730,essv5073262,essv5070998,essv5058731,essv5145143,essv5012567,essv5009131,essv5160969,essv5081405,essv5013176,essv5100515,essv5075755,essv5075938,essv5132255,essv5018622,essv5032567,essv5111042,essv5140869,essv5121564,essv5087680,essv5125022,essv5129151,essv5017553,essv5029809,essv5050237,essv5090913,essv5085817,essv5089323,essv5112762,essv5072947,essv5038961,essv5093877,essv5055133,essv5002627,essv5061708,essv5050535,essv5100460,essv5105539,essv5098345,essv5025734,essv5097727,essv5152079,essv5059434,essv5053003,essv5127675,essv5010347 M 1184 0 418 "" NA06984,NA06986,NA06991,NA06993,NA06994,NA06995,NA07022,NA07029,NA07037,NA07056,NA07346,NA07347,NA07349,NA07435,NA10831,NA10837,NA10840,NA10843,NA10846,NA10847,NA10854,NA10864,NA11839,NA11893,NA11918,NA11920,NA11995,NA12005,NA12043,NA12044,NA12144,NA12145,NA12146,NA12154,NA12155,NA12264,NA12273,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12386,NA12400,NA12707,NA12718,NA12740,NA12748,NA12750,NA12760,NA12762,NA12775,NA12776,NA12802,NA12814,NA12818,NA12828,NA12829,NA12830,NA12843,NA12864,NA12865,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12892,NA17965,NA17972,NA17981,NA17989,NA17995,NA18105,NA18108,NA18133,NA18139,NA18140,NA18146,NA18148,NA18150,NA18154,NA18155,NA18160,NA18166,NA18484,NA18488,NA18497,NA18498,NA18507,NA18509,NA18518,NA18520,NA18524,NA18532,NA18546,NA18548,NA18562,NA18572,NA18573,NA18608,NA18611,NA18612,NA18622,NA18628,NA18631,NA18634,NA18638,NA18639,NA18642,NA18645,NA18647,NA18749,NA18757,NA18852,NA18854,NA18855,NA18867,NA18869,NA18874,NA18875,NA18923,NA18934,NA18940,NA18944,NA18959,NA18965,NA18969,NA18972,NA18973,NA18974,NA18991,NA18993,NA18994,NA18998,NA19009,NA19027,NA19036,NA19041,NA19046,NA19066,NA19067,NA19074,NA19075,NA19079,NA19087,NA19098,NA19117,NA19121,NA19123,NA19138,NA19146,NA19148,NA19149,NA19174,NA19175,NA19182,NA19193,NA19197,NA19198,NA19199,NA19206,NA19207,NA19208,NA19221,NA19222,NA19224,NA19225,NA19239,NA19257,NA19310,NA19319,NA19321,NA19328,NA19332,NA19350,NA19359,NA19371,NA19375,NA19393,NA19394,NA19396,NA19397,NA19399,NA19403,NA19429,NA19436,NA19472,NA19473,NA19654,NA19656,NA19658,NA19659,NA19660,NA19661,NA19662,NA19664,NA19676,NA19681,NA19683,NA19685,NA19701,NA19711,NA19713,NA19714,NA19723,NA19724,NA19725,NA19726,NA19747,NA19748,NA19749,NA19750,NA19751,NA19756,NA19757,NA19761,NA19762,NA19773,NA19774,NA19776,NA19777,NA19778,NA19779,NA19782,NA19783,NA19784,NA19789,NA19794,NA19818,NA19819,NA19828,NA19834,NA19901,NA19902,NA19908,NA19919,NA19921,NA19985,NA20287,NA20288,NA20337,NA20350,NA20502,NA20504,NA20506,NA20509,NA20510,NA20512,NA20516,NA20518,NA20520,NA20521,NA20522,NA20538,NA20539,NA20540,NA20541,NA20581,NA20586,NA20589,NA20755,NA20756,NA20757,NA20758,NA20759,NA20765,NA20769,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20785,NA20786,NA20790,NA20799,NA20800,NA20804,NA20805,NA20806,NA20808,NA20810,NA20811,NA20812,NA20813,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20870,NA20872,NA20873,NA20874,NA20877,NA20879,NA20882,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20906,NA20907,NA21086,NA21088,NA21090,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21143,NA21295,NA21297,NA21300,NA21339,NA21344,NA21355,NA21357,NA21363,NA21368,NA21370,NA21382,NA21384,NA21385,NA21386,NA21387,NA21388,NA21391,NA21399,NA21402,NA21403,NA21404,NA21405,NA21408,NA21415,NA21420,NA21434,NA21438,NA21440,NA21448,NA21453,NA21455,NA21473,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21491,NA21493,NA21494,NA21520,NA21523,NA21525,NA21576,NA21577,NA21608,NA21611,NA21613,NA21614,NA21632,NA21650,NA21693,NA21739,NA21784,NA21826 nsv438295 18 61880067 61881930 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470725,nssv470724 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18852,NA19208 nsv433171 18 61880550 61881930 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463052 S 9 0 1 "" NA15510 dgv3428n71 18 61881930 61943945 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909726,nsv909725 M 6533 0 4 "" IS34358,IS40657,IS41964,MS22993 nsv909727 18 61881930 62050828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552425 S 6533 0 1 "" MS19414 nsv523685 18 61884005 61901405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699490 S 2026 0 1 "" dgv3429n71 18 61884005 61994823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909729,nsv909728 M 6533 0 2 "" IS35127,IS40503 esv999475 18 61912838 61920402 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563882 S 3 0 1 "" HuRef esv2427957 18 61917209 61921028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339458 S 1 0 1 "" NA18507 nsv512542 18 61917231 61920399 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625147 S 1 0 1 "" 1 nsv9634 18 61917522 61920697 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26681,nssv21731,nssv25811,nssv25018,nssv24498,nssv27607,nssv21340,nssv21859,nssv27340,nssv27336,nssv21275,nssv23863,nssv23622,nssv25137,nssv24367,nssv24470,nssv28414,nssv26307,nssv25064,nssv24677,nssv27185 M 31 21 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18537,NA18552,NA18563,NA18564,NA18572,NA18860,NA18972,NA18975,NA19132,NA19144,NA19221,NA19240 esv2128260 18 61917666 61920368 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550866 S 1 0 1 "" NA18507 esv4729 18 61917819 61920243 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27170 S 1 0 1 Single Asian sample YH "" YH esv6763 18 61917840 61920192 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29204 S 1 0 1 "" SJK esv989091 18 61917849 61920181 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582636 S 3 0 1 "" HuRef esv1118367 18 61917853 61920186 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635267 S 2 0 1 "" HuRef nsv132182 18 61917854 61920186 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150760 M 24 "" dgv554n67 18 61917859 61920289 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828272,nsv828273,nsv828271 M 31 0 27 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv820532 18 61917859 61920289 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419999 S 1 0 1 "" NA10851 nsv819600 18 61917888 61920244 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419422 S 2 1 0 "" AK1 esv28650 18 61917905 61920159 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14389 S 451 26 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18858,NA18909,NA18916,NA19225,NA19240,NA19257 nsv828274 18 61918158 61918944 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436729 S 31 0 1 "" NA18592 nsv909730 18 61920813 62008747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570515 S 6533 0 1 "" IS32150 esv2507549 18 61980492 61986783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386923 S 1 0 1 "" NA18507 nsv442446 18 61980604 61984771 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2352028 18 61980768 61986031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4940316 S 1 0 1 "" NA18507 esv29753 18 61982161 61985749 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20672 S 451 0 1 "" NA18523 nsv514880 18 61982176 61984712 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628318 S 1414 0 1 "" nsv458104 18 61992270 62356871 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535139 S 1557 0 1 CDH19 1780854103_A dgv191n21 18 62002070 62002577 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524915,nsv518146 M 2026 0 2 "" nsv526803 18 62002070 62015177 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703157 S 2026 1 0 "" nsv909731 18 62015177 62154165 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529262 S 6533 1 0 "" SP81491 nsv9636 18 62025633 62030850 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26606,nssv23650 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA18504 esv2545364 18 62034500 62035479 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297107 S 1 1 0 "" NA18507 esv271500 18 62035123 62035214 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500854,essv2511820,essv2496160,essv2506223,essv2508653,essv2494065,essv2504764,essv2506505,essv2509607 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA18499,NA18511,NA18523,NA18592,NA18871,NA19099,NA19108,NA19129 esv1153816 18 62035150 62035150 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009677 S 2 1 0 "" HuRef dgv3430n71 18 62037691 62326247 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909733,nsv909732 M 6533 2 0 CDH19 SP52057,SP81454 dgv1037e1 18 62053230 62063989 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24637,essv24602 M 271 0 0 "" NA10846,NA12875 dgv1038e1 18 62053230 62087598 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1183,essv24456,essv20500 M 271 0 0 "" NA12865,NA12874 nsv435691 18 62056808 62062979 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465653 S 2 0 1 "" NA15510 dgv22n50 18 62057658 62063678 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512543,nsv511608 M 1 0 1 "" 1 nsv9637 18 62057838 62063079 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21370 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv514881 18 62058404 62062484 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628319 S 1414 0 1 "" esv2421862 18 62058414 62062569 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038115,essv5050187,essv5157777,essv5045624,essv5065789,essv5034821,essv5061796,essv5127214,essv5092618,essv5008684,essv5072282,essv5086170,essv5060571,essv5019115,essv5038062,essv5151181,essv5079164,essv5012147,essv5044851,essv5092335,essv5021556,essv5151412,essv5109533,essv5060860,essv5114793,essv5119993,essv5127019,essv5129801,essv5153037,essv5126108,essv5035107,essv5050621,essv5075118,essv5135146,essv5097142,essv5141963,essv5158400,essv5064281,essv5045640,essv5028354,essv5142518,essv5137220,essv5113601,essv5122401,essv5064817,essv5129087,essv5053119,essv5011355,essv5158703,essv5008803,essv5091213,essv5160303,essv5044796,essv5014638,essv5148003,essv5117798,essv5110550,essv5148976,essv5098798,essv5016317,essv5132176,essv5075410,essv5138993,essv5070768,essv5047075,essv5133121,essv5057832,essv5057172,essv5089227,essv5084439,essv5131405,essv5019954,essv5116872,essv5045915,essv5045775,essv5027313,essv5070044,essv5010533,essv5095423,essv5141603,essv5013213,essv5015246,essv5101579,essv5083776,essv5050154,essv5096187,essv5077431,essv5086831,essv5156710,essv5099030,essv5058195,essv5061786,essv5041852,essv5022731,essv5121500,essv5121573,essv5078279,essv5072096,essv5028296,essv5034006 M 1184 0 100 "" NA06984,NA06994,NA06995,NA07022,NA07435,NA10846,NA10854,NA11839,NA12044,NA12057,NA12145,NA12154,NA12283,NA12286,NA12335,NA12340,NA12341,NA12344,NA12348,NA12707,NA12718,NA12802,NA12814,NA12818,NA12828,NA12829,NA12843,NA12865,NA12874,NA12875,NA12877,NA12889,NA19654,NA19658,NA19659,NA19676,NA19681,NA19683,NA19719,NA19723,NA19724,NA19725,NA19726,NA19747,NA19748,NA19749,NA19750,NA19751,NA19756,NA19757,NA19762,NA19773,NA19777,NA19794,NA19796,NA19921,NA20287,NA20288,NA20350,NA20509,NA20520,NA20538,NA20540,NA20757,NA20765,NA20773,NA20785,NA20786,NA20806,NA20808,NA20811,NA20816,NA20818,NA20847,NA20850,NA20854,NA20859,NA20861,NA20862,NA20870,NA20874,NA20879,NA20882,NA20885,NA20888,NA20889,NA20891,NA20896,NA20899,NA20900,NA20907,NA21090,NA21092,NA21099,NA21101,NA21103,NA21104,NA21106,NA21115,NA21137 nsv442754 18 62058414 62062569 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23880 18 62058470 62062636 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19046 S 451 0 3 "" NA12044,NA12828,NA15510 nsv433172 18 62058882 62061927 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463053 S 9 0 1 "" NA15510 dgv1039e1 18 62059541 62062341 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25149,essv21098 M 271 0 0 "" NA10854,NA11839 dgv1040e1 18 62059541 62064357 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19299,essv22622,essv24957,essv20452,essv25096,essv20866,essv21933,essv20705,essv18888,essv17864 M 271 0 0 "" NA06994,NA07022,NA10857,NA12057,NA12145,NA12154,NA12707,NA12717,NA12802,NA12814 esv1006725 18 62062457 62062518 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567454 S 3 0 1 "" HuRef esv1188664 18 62062461 62062523 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858903 S 2 0 1 "" HuRef nsv524036 18 62083778 62104703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699900 S 2026 0 1 "" nsv833677 18 62124968 62271091 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454063,nssv1454065,nssv1454064 M 95 0 3 "" nsv909734 18 62155650 62222556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568771 S 6533 0 1 "" IS31335 dgv3431n71 18 62155650 62254329 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909736,nsv909735 M 6533 0 2 "" IS35229,MS15199 dgv1041e1 18 62157007 62341492 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2999,essv5384,essv4782,essv4361,essv19250,essv20961,esv266,essv23009,essv21110,essv20365,essv23584,essv2641 M 271 0 0 CDH19 NA10830,NA10838,NA12006,NA12801,NA12812,NA12815,NA18563,NA18573,NA18620,NA18967,NA18981 esv2639255 18 62157206 62159234 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221763 S 1 0 1 "" NA18507 esv2007850 18 62157763 62159171 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567492 S 1 0 1 "" NA18507 esv29357 18 62158130 62159001 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16871 S 451 0 3 "" NA18517,NA18909,NA19190 nsv828276 18 62158467 62159127 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431063 S 31 0 1 "" NA18947 nsv909737 18 62210578 62273843 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548818 S 6533 1 0 "" MS17878 esv24522 18 62281307 62284286 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19794 S 451 0 2 "" NA18861,NA19257 nsv909738 18 62288983 62356871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579340 S 6533 0 1 CDH19 IS35083 nsv521111 18 62327345 62426942 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697793 S 2026 1 0 CDH19 esv7054 18 62361062 62361117 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29495 S 1 1 0 CDH19 SJK dgv555n67 18 62370020 62372234 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828278,nsv828277 M 31 0 2 CDH19 NA18947,NA18969 nsv821348 18 62370610 62372234 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420000 S 1 0 1 CDH19 NA10851 nsv820231 18 62370671 62372471 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419330 S 2 1 0 CDH19 AK1 esv21881 18 62370731 62372179 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17072 S 451 17 5 CDH19 NA06985,NA07037,NA07045,NA11894,NA11931,NA12004,NA12044,NA12156,NA12239,NA12414,NA12749,NA12878,NA15510,NA18505,NA18508,NA18909,NA18916,NA19099,NA19129,NA19147,NA19225,NA19240 nsv909739 18 62390176 62529936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554374 S 6533 0 1 CDH19 MS20753 nsv819554 18 62422224 62425778 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419557 S 2 1 0 "" AK1 nsv828279 18 62550579 62551880 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426243 S 31 1 0 "" AK4 nsv828280 18 62564815 62565439 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426244 S 31 1 0 "" AK4 esv267628 18 62580151 62580546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510229,essv2510151,essv2511056,essv2495913,essv2499271,essv2495610,essv2503490,essv2495943,essv2498955 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11829,NA11831,NA12489,NA18605,NA18916,NA18947,NA18961,NA19114 nsv909740 18 62596491 62726211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581430 S 6533 0 1 "" IS35572 nsv909741 18 62642027 62730185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536553 S 6533 0 1 "" MS12827 nsv909742 18 62683673 62730185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513982 S 6533 0 1 "" SP55878 nsv520946 18 62688706 62726211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681527,nssv678169 M 2026 0 2 "" esv1926964 18 62689629 62690073 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762114 S 1 0 1 "" NA18507 esv1651942 18 62689753 62689834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604731 S 2 0 1 "" HuRef esv2520831 18 62693451 62695085 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195629 S 1 0 1 "" NA18507 esv2219999 18 62693741 62694447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757337 S 1 0 1 "" NA18507 esv3506 18 62693820 62694324 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25947 S 1 0 1 Single Asian sample YH "" YH nsv131281 18 62693911 62694231 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149859 M 24 "" esv989050 18 62693914 62694233 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567219 S 3 0 1 "" HuRef nsv522131 18 62747007 62783447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694905 S 2026 0 1 "" nsv2340 18 62776114 62809145 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4330 S 9 1 0 "" NA12878 dgv3432n71 18 62799258 62955575 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909743,nsv909744 M 6533 0 2 "" IS38072,IS41863 esv269286 18 62876518 62876867 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504440,essv2493705,essv2505889,essv2493937,essv2498797,essv2510451,essv2503634 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11993,NA18517,NA18861,NA18871,NA19138,NA19172 nsv828281 18 62928173 62930320 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429484,nssv1427931,nssv1431088 M 31 0 3 "" AK12,AK8,NA18947 esv25587 18 62928224 62930428 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13751 S 451 0 2 "" NA07037,NA12828 nsv524880 18 62929622 62933123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700886 S 2026 0 1 "" nsv909745 18 62955575 63059774 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541605 S 6533 1 0 "" MS15385 nsv507878 18 62996975 63002975 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623249,nssv619208 M 4 2 0 "" NA10860,NA18994 nsv833678 18 63003844 63174547 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454066 S 95 1 0 "" esv1190030 18 63007437 63007489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145123 S 2 0 1 "" HuRef nsv909746 18 63022319 63106250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560862 S 6533 0 1 "" MS24736 nsv526985 18 63080092 63109788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703358 S 2026 0 1 "" esv1063188 18 63081807 63081807 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826378 S 2 1 0 "" HuRef nsv428356 18 63092767 63241939 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453591 S 62 0 1 "" NA18916 nsv833679 18 63094913 63241866 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454067 S 95 0 1 "" nsv2341 18 63096504 63130223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2199,nssv1419 M 9 0 2 "" NA18555,NA19240 dgv1042e1 18 63098485 63123732 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1002,esv1286 M 271 0 0 "" NA18964 nsv9638 18 63109644 63119403 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27349,nssv26324,nssv26693,nssv28415,nssv24951,nssv24235,nssv24557,nssv23890,nssv21889 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA12155,NA18572,NA18853,NA18972,NA18975,NA18980,NA19007,NA19221,NA19240 nsv436244 18 63109678 63118284 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465655 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv23n50 18 63109715 63119689 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511609,nsv512544 M 1 0 1 "" 1 dgv556n67 18 63109932 63116264 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828285,nsv828284,nsv828282,nsv828283 M 31 0 14 "" AK10,AK14,AK18,AK2,AK4,AK6,NA18526,NA18542,NA18566,NA18947,NA18968,NA18969,NA18972,NA18999 nsv819055 18 63109962 63117577 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419835 S 2 0 1 "" AK1 nsv498885 18 63109993 63118243 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585746 S 9 0 1 "" esv28922 18 63109995 63118458 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10709 S 451 0 6 "" NA15510,NA18505,NA18508,NA18916,NA19114,NA19240 esv2421947 18 63110203 63118245 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027212,essv5113769,essv5066860,essv5118699,essv5003460,essv5133527,essv5006347,essv5047916,essv5096325,essv5100570,essv5142616,essv5057635,essv5029775,essv5117054,essv5055874,essv5141740,essv5089593,essv5020210,essv5052384,essv5076079,essv5089710,essv5014656,essv5131346,essv5048751,essv5120501,essv5048020,essv5010755,essv5006923,essv5004527,essv5116326,essv5137553,essv5135442,essv5021688,essv5074428,essv5004165,essv5096654,essv5154069,essv5047558,essv5033016,essv5135577,essv5119911,essv5067683,essv5046372,essv5020134,essv5146152,essv5013104,essv5030949,essv5036285,essv5147581,essv5021115,essv5098844,essv5119103,essv5064153,essv5094045,essv5047086,essv5067480,essv5105410,essv5075504,essv5110649,essv5018123,essv5017691,essv5021379,essv5015159,essv5049037,essv5067973,essv5014186,essv5011354,essv5125712,essv5057175,essv5154541,essv5019669,essv5036606,essv5141259,essv5028599,essv5141769,essv5071539,essv5037808,essv5089347,essv5139630,essv5153611,essv5050907,essv5023269,essv5058535,essv5137696,essv5019272,essv5006959,essv5133370,essv5091597,essv5034151,essv5045048,essv5143121,essv5134998,essv5159331,essv5133659,essv5013197,essv5033474,essv5077124,essv5130741,essv5140832,essv5072507,essv5082220,essv5091558,essv5027053,essv5051194,essv5048593,essv5083722,essv5062681,essv5091621,essv5140555,essv5153191,essv5082772,essv5116196,essv5157272,essv5065554,essv5147078,essv5087371,essv5133209,essv5104136,essv5105077,essv5111070,essv5080246,essv5157834,essv5082452,essv5063747,essv5154511,essv5007829,essv5018509,essv5102192,essv5147462,essv5016322,essv5128176,essv5029767,essv5151437,essv5011825,essv5085996,essv5076869,essv5147371,essv5017571,essv5031781,essv5023268,essv5153309,essv5143719,essv5081363,essv5137960,essv5122016,essv5051651,essv5103950,essv5157313,essv5076749,essv5118884,essv5009019,essv5043902,essv5034855,essv5007013,essv5044466,essv5155077,essv5009653,essv5078921,essv5106521,essv5035476,essv5116198,essv5056952,essv5110516,essv5032460,essv5119763,essv5053347,essv5141501,essv5030569,essv5030820,essv5151344,essv5023337,essv5013810,essv5010566,essv5109986,essv5019598,essv5002266,essv5131913,essv5038330,essv5107049,essv5003017,essv5085674,essv5007008,essv5027316,essv5083661,essv5002522,essv5051125,essv5003682,essv5036456,essv5121662,essv5138287,essv5103320,essv5005419,essv5004546,essv5069182,essv5051848,essv5018711,essv5138296,essv5049428,essv5088145,essv5032056,essv5068677,essv5142131,essv5009611,essv5042757,essv5126412,essv5072962,essv5052581,essv5077760,essv5028947,essv5148893,essv5152123,essv5087275,essv5050201,essv5014588,essv5131244,essv5009627,essv5131139,essv5032848,essv5111321,essv5062819,essv5011779,essv5044347,essv5129642,essv5104602,essv5089594,essv5149972,essv5129299,essv5098963,essv5052095,essv5157555,essv5028029,essv5111833,essv5050829,essv5077295,essv5053592,essv5035400,essv5059497,essv5002659,essv5068042,essv5104118,essv5136891,essv5074830,essv5120437,essv5056773,essv5100363,essv5127842,essv5014302,essv5160236,essv5158333,essv5026365,essv5052782,essv5148083,essv5116884,essv5150187,essv5120184,essv5048507,essv5084105,essv5077497,essv5008746,essv5132583,essv5003751,essv5110472,essv5121254,essv5039029,essv5118349,essv5012654,essv5076258,essv5121026,essv5110239,essv5074467,essv5093062,essv5063598,essv5090249,essv5071100,essv5150879,essv5018843,essv5049749,essv5004783,essv5013764,essv5065476,essv5145528,essv5018153,essv5039603,essv5117184,essv5070231,essv5060794,essv5061394,essv5052202,essv5045442,essv5119266,essv5081758,essv5037842,essv5014814,essv5091578,essv5036764,essv5156178,essv5083613,essv5016530,essv5005706,essv5083981,essv5151554,essv5027647,essv5049239,essv5144384,essv5027394,essv5024641,essv5021359,essv5128707,essv5022306,essv5137930,essv5067711,essv5103907 M 1184 0 312 "" NA12155,NA12344,NA12347,NA12748,NA17962,NA17965,NA17966,NA17968,NA17972,NA17976,NA17979,NA17980,NA17981,NA17986,NA17987,NA17988,NA17993,NA17995,NA17997,NA17999,NA18101,NA18112,NA18114,NA18120,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18150,NA18153,NA18154,NA18155,NA18156,NA18158,NA18159,NA18160,NA18505,NA18508,NA18510,NA18524,NA18526,NA18529,NA18534,NA18542,NA18544,NA18545,NA18550,NA18555,NA18559,NA18561,NA18562,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18610,NA18611,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18626,NA18628,NA18630,NA18632,NA18635,NA18640,NA18642,NA18689,NA18696,NA18740,NA18745,NA18748,NA18757,NA18852,NA18853,NA18854,NA18855,NA18871,NA18872,NA18912,NA18914,NA18916,NA18924,NA18930,NA18940,NA18945,NA18947,NA18954,NA18955,NA18957,NA18960,NA18961,NA18963,NA18964,NA18968,NA18969,NA18971,NA18972,NA18975,NA18976,NA18977,NA18979,NA18980,NA18990,NA18993,NA18995,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19028,NA19044,NA19056,NA19057,NA19058,NA19059,NA19060,NA19063,NA19064,NA19065,NA19066,NA19068,NA19075,NA19076,NA19077,NA19078,NA19080,NA19083,NA19084,NA19085,NA19087,NA19088,NA19093,NA19113,NA19114,NA19116,NA19130,NA19137,NA19139,NA19152,NA19160,NA19161,NA19176,NA19178,NA19180,NA19201,NA19202,NA19206,NA19213,NA19215,NA19221,NA19222,NA19226,NA19235,NA19239,NA19240,NA19248,NA19249,NA19256,NA19258,NA19309,NA19314,NA19317,NA19318,NA19350,NA19373,NA19381,NA19382,NA19384,NA19391,NA19436,NA19438,NA19440,NA19443,NA19445,NA19448,NA19452,NA19462,NA19463,NA19469,NA19470,NA19471,NA19473,NA19669,NA19671,NA19675,NA19676,NA19677,NA19679,NA19700,NA19702,NA19704,NA19705,NA19713,NA19714,NA19716,NA19719,NA19746,NA19748,NA19755,NA19757,NA19782,NA19784,NA19795,NA19796,NA19916,NA19918,NA19985,NA20300,NA20334,NA20335,NA20336,NA20337,NA20346,NA20347,NA20363,NA20766,NA20785,NA20797,NA20810,NA20811,NA20853,NA20871,NA20873,NA20883,NA20890,NA20897,NA20901,NA21097,NA21103,NA21105,NA21107,NA21108,NA21116,NA21123,NA21125,NA21142,NA21143,NA21295,NA21301,NA21303,NA21312,NA21313,NA21318,NA21320,NA21365,NA21366,NA21367,NA21371,NA21378,NA21381,NA21388,NA21400,NA21401,NA21415,NA21417,NA21423,NA21425,NA21435,NA21439,NA21441,NA21447,NA21457,NA21491,NA21493,NA21512,NA21519,NA21523,NA21574,NA21578,NA21600,NA21615,NA21631,NA21635,NA21636,NA21678,NA21683,NA21685,NA21722,NA21723,NA21739,NA21768 nsv442755 18 63110203 63118245 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514882 18 63110920 63116072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628320 S 1414 0 1 "" nsv909747 18 63162673 63178960 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541606 S 6533 1 0 "" MS15385 nsv2342 18 63163055 63195729 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1420 S 9 1 0 "" NA19240 nsv458106 18 63208880 63247032 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535140 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00153 nsv909748 18 63227575 63379391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588075 S 6533 1 0 DSEL,LOC643542 IS38151 nsv510879 18 63272046 63283751 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621643,nssv624354,nssv622422 M 4 0 0 "" NA10860,NA15510,NA18994 esv271988 18 63289794 63290126 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509227,essv2506499 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18909,NA19108 nsv522951 18 63312986 63321517 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698619 S 2026 0 1 "" nsv521537 18 63339146 63454257 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698153 S 2026 1 0 LOC643542 nsv2344 18 63341445 63373239 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10165 S 9 1 0 LOC643542 NA18956 nsv524650 18 63363118 63472882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700616 S 2026 0 1 LOC643542 nsv909749 18 63379391 63472714 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515836 S 6533 1 0 LOC643542 SP56289 esv272150 18 63401920 63402162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496463,essv2496310,essv2495717,essv2504834 M 157 4 0 Samples from several populations that are part of the HapMap project. LOC643542 NA18510,NA18511,NA18916,NA19099 nsv909750 18 63414753 63483660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585372 S 6533 0 1 LOC643542 IS37428 nsv2345 18 63430962 63489057 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1421,nssv5708 M 9 0 2 LOC643542 NA19129,NA19240 nsv909751 18 63439699 63494153 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589857 S 6533 1 0 LOC643542 IS38417 nsv909752 18 63441694 63943013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543326 S 6533 0 1 LOC643542 MS16152 nsv498886 18 63446553 63468227 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585747 S 9 0 1 LOC643542 esv26877 18 63447079 63468313 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18609 S 451 0 3 LOC643542 NA19129,NA19190,NA19240 nsv514883 18 63447264 63468032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628321 S 1414 0 1 LOC643542 esv2422116 18 63448025 63468185 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5093588,essv5084244,essv5062690,essv5035076,essv5151217,essv5027995,essv5151733,essv5138503,essv5143043,essv5145749,essv5051076,essv5147824,essv5115313,essv5123586,essv5036711,essv5074757,essv5155261,essv5005492,essv5087535,essv5024482,essv5087880,essv5072260,essv5154338,essv5002106,essv5096515,essv5073836,essv5128955,essv5055689,essv5035575,essv5089883,essv5107039,essv5025597,essv5152414,essv5092200,essv5094529,essv5145444,essv5023031,essv5059296,essv5063758,essv5007742,essv5025476,essv5151903 M 1184 0 42 LOC643542 NA18487,NA18489,NA18501,NA18503,NA18504,NA18518,NA18519,NA18855,NA18862,NA18913,NA18914,NA19116,NA19119,NA19120,NA19121,NA19123,NA19128,NA19129,NA19141,NA19149,NA19151,NA19184,NA19190,NA19191,NA19238,NA19240,NA19311,NA19443,NA19469,NA19470,NA19474,NA19651,NA19653,NA20346,NA20347,NA20360,NA21475,NA21477,NA21489,NA21490,NA21620,NA21722 nsv817799 18 63448025 63468185 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416682,nssv1416685,nssv1416261,nssv1416408,nssv1416409 M 112 1 4 LOC643542 NA18855,NA18856,NA19119,NA19120,NA19141 dgv26n64 18 63448025 63469774 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817798,nsv817800 M 112 0 3 LOC643542 NA19116,NA19238,NA19240 dgv192n21 18 63448025 63472714 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517463,nsv522769 M 2026 0 93 LOC643542 nsv470424 18 63448025 63497384 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547091,nssv547092 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC643542 HGDP00905,HGDP01286 nsv442756 18 63455071 63466327 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC643542 nsv528890 18 63494969 63497384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705574 S 2026 0 1 LOC643542 nsv833680 18 63538821 63701257 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454068 S 95 0 1 LOC643542 esv1685376 18 63591659 63591862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927869 S 2 0 1 LOC643542 HuRef nsv517766 18 63606591 63715040 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700668,nssv705401,nssv677261,nssv670911,nssv653157,nssv699491 M 2026 1 5 LOC643542 nsv909753 18 63611483 63639054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541232 S 6533 0 1 LOC643542 MS15199 dgv3433n71 18 63618842 63647372 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909754,nsv909760 M 6533 2 0 LOC643542 IS41664,SP50593 nsv909755 18 63618842 63648961 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583543,nssv1575681 M 6533 1 1 LOC643542 IS33796,IS36527 dgv3434n71 18 63618842 63711815 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909757,nsv909758,nsv909756 M 6533 0 3 LOC643542 IS35181,IS39011,MS17114 dgv3435n71 18 63618842 63769001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909763,nsv909759 M 6533 0 3 LOC643542 IS33533,IS35028,IS35229 nsv470425 18 63630851 63650584 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547094,nssv547093 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC643542 HGDP00864,HGDP00875 esv27124 18 63630885 63631413 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15740 S 451 2 0 LOC643542 NA19099,NA19225 nsv507879 18 63637047 63643047 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620633 S 4 1 0 LOC643542 NA15510 nsv909761 18 63640601 63677797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569110 S 6533 0 1 LOC643542 IS31419 nsv909762 18 63650584 63693376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582559 S 6533 0 1 LOC643542 IS35993 dgv3436n71 18 63665991 63736560 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909764,nsv909765 M 6533 0 2 LOC643542 IS31179,IS40627 dgv3437n71 18 63688332 63711815 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909768,nsv909766 M 6533 0 2 LOC643542 MS15704,MS25304 dgv3438n71 18 63688332 63734534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909767,nsv909769 M 6533 0 3 LOC643542 IS30667,IS36219,MS25751 nsv470426 18 63692394 63715040 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547095 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC643542 HGDP01061 nsv828287 18 63713084 63714662 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426246 S 31 1 0 LOC643542 AK4 esv1715748 18 63739834 63739886 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969441 S 2 0 1 "" HuRef esv992530 18 63739868 63739917 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578590 S 3 0 1 "" HuRef nsv909770 18 63798623 63854220 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584746 S 6533 1 0 "" IS37159 nsv528218 18 63815942 63843372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704779 S 2026 0 1 "" esv268862 18 63831598 63831858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509901,essv2509486 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA19129 nsv458117 18 63843275 64685792 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535143 S 1557 1 0 CCDC102B,TMX3 1780854159_A dgv13e196 18 63855650 63908913 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422419,esv2422235,esv2422410,esv2422483 M 181 0 4 "" ND00672,ND01678,ND03938,ND04853 nsv909771 18 63883577 63929319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548819 S 6533 1 0 "" MS17878 nsv909772 18 63885125 63929319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578462,nssv1581731 M 6533 0 2 "" IS34782,IS35701 nsv909773 18 63892501 63974186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579892,nssv1579341,nssv1565975 M 6533 0 3 "" IS30539,IS35083,IS35181 nsv470428 18 63902752 63982373 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547097,nssv547096 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864,HGDP01060 dgv3439n71 18 63904295 63983767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909776,nsv909774,nsv909777,nsv909775 M 6533 0 4 "" IS33811,IS35911,MS17114,MS18978 esv1924262 18 63914458 63914846 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843299 S 1 0 1 "" NA18507 esv1268010 18 63914638 63914732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279204 S 2 0 1 "" HuRef nsv527736 18 63929319 64101688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704220 S 2026 0 1 "" nsv909778 18 63934626 63981586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541459 S 6533 0 1 "" MS15312 nsv470429 18 63940318 63981586 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547098 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226 nsv442447 18 63949433 63959430 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817801 18 63951553 63959826 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416686,nssv1416687 M 112 2 0 "" NA19119,NA19120 nsv458120 18 63951553 63981586 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535145 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 dgv193n21 18 63984412 63984735 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522736,nsv528384 M 2026 0 2 "" nsv526952 18 63993805 63997305 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703324 S 2026 0 1 "" nsv516694 18 64003187 64042401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676034,nssv660957,nssv657341,nssv673824,nssv687475,nssv693376,nssv663728,nssv677592,nssv675870,nssv697613,nssv670203,nssv691583,nssv678569,nssv657715 M 2026 0 14 "" dgv382n27 18 64003187 64050360 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458123,nsv458124,nsv458126,nsv458128,nsv458125,nsv458122,nsv458127 M 1557 0 7 "" 1780854462_A,1780854522_A,1780854573_A,NINDS_117,NINDS_190,NINDS_20,NINDS_6 nsv833682 18 64010482 64163155 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454069 S 95 0 1 "" nsv513501 18 64027929 64029321 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625911 S 1 1 0 "" 1 esv1772600 18 64028471 64028471 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792988 S 2 1 0 "" HuRef nsv909779 18 64075007 64104343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540177,nssv1537007 M 6533 0 2 "" MS13062,MS14724 nsv909780 18 64080211 64173738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565532 S 6533 1 0 "" IS30455 nsv828288 18 64098893 64099978 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422257 S 31 0 1 "" NA18997 esv29249 18 64098947 64100003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21084 S 451 0 1 "" NA12749 dgv1043e1 18 64126718 64284813 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14236,essv13982 M 271 0 0 "" NA19098,NA19100 esv847 18 64126718 64543942 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 CCDC102B,TMX3 essv12591 18 64138015 64411132 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19098 nsv909781 18 64146863 64195285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566185 S 6533 0 1 "" IS30597 nsv437827 18 64152547 64218618 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467708 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 dgv3440n71 18 64152547 64224755 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909782,nsv909784 M 6533 0 2 "" IS35181,MS17114 nsv458134 18 64152547 64272543 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535154 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00041 nsv909783 18 64152547 64279235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524625,nssv1528165 M 6533 0 2 "" SP55132,SP81146 nsv438296 18 64173660 64272543 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470727,nssv470728,nssv470733,nssv470734,nssv470730,nssv470732,nssv470726,nssv470731 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19098,NA19100 nsv909785 18 64176615 64204345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545653 S 6533 0 1 "" MS16885 dgv3441n71 18 64182680 64204345 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909786,nsv909787 M 6533 0 2 "" SP50101,SP58416 dgv3442n71 18 64186512 64196864 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909789,nsv909788 M 6533 0 2 "" IS33763,IS41866 dgv3443n71 18 64186512 64200430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909790,nsv909792,nsv909791 M 6533 0 4 "" IS33530,MS17611,MS19634,SP52708 nsv909793 18 64186512 64204345 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562665 S 6533 1 0 "" MS25695 nsv909794 18 64186512 64218445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538100 S 6533 0 1 "" MS13480 nsv458135 18 64190117 64195537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535155 S 1557 0 1 "" NINDS_67 nsv909795 18 64190117 64199502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514924 S 6533 0 1 "" SP56096 nsv458136 18 64190117 64200056 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535156 S 1557 0 1 "" NINDS_106 dgv3444n71 18 64190871 64197160 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909796,nsv909797 M 6533 0 2 "" MS15402,MS17674 nsv828289 18 64196159 64196628 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426247 S 31 1 0 "" AK4 nsv909798 18 64205636 64279235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568176 S 6533 0 1 "" IS31205 nsv437828 18 64224755 64257638 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467709 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 dgv383n27 18 64228059 64246764 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458138,nsv458139,nsv458137 M 1557 0 3 "" 1780862310_A,NINDS_104,NINDS_97 nsv828290 18 64238989 64239469 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426248 S 31 0 1 "" AK4 nsv909799 18 64249839 64272543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541511 S 6533 0 1 "" MS15341 nsv909800 18 64258633 64272543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540041 S 6533 0 1 "" MS14665 dgv3445n71 18 64275478 64356370 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909804,nsv909803,nsv909801 M 6533 0 3 "" IS40627,MS19721,SP81324 nsv909802 18 64279235 64343434 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548820,nssv1554091 M 6533 1 1 "" MS17878,MS20612 nsv9639 18 64307579 64310212 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27645 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv458140 18 64311444 64340670 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535160 S 1557 0 1 "" 1780854545_A nsv833683 18 64317157 64463860 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454070 S 95 1 0 "" nsv510746 18 64348902 64368577 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617434 S 4 0 1 "" CHM nsv9640 18 64349207 64361122 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24976 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 esv1002799 18 64352173 64362178 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564105 S 3 0 1 "" HuRef esv25072 18 64353350 64360608 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12781 S 451 2 0 "" NA12749,NA19240 nsv820533 18 64353350 64360608 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420001 S 1 0 1 "" NA10851 nsv436242 18 64354523 64359956 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465656 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1234158 18 64356413 64358591 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196898 S 2 0 1 "" HuRef nsv470430 18 64367236 64449042 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547099 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 dgv71n6 18 64372299 64372631 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv131794,nsv132091 M 24 "" esv29692 18 64379656 64380332 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16171 S 451 1 0 "" NA19108 esv1774994 18 64379937 64380315 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128728 S 2 0 1 "" HuRef nsv130825 18 64379938 64380315 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149403 M 24 "" esv6520 18 64379973 64380309 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28961 S 1 0 1 "" SJK nsv909805 18 64387270 64472145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569486 S 6533 0 1 "" IS31581 nsv517811 18 64387270 64478294 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695216 S 2026 1 0 "" dgv1044e1 18 64388382 64543942 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3549,essv13918,essv17849 M 271 0 0 CCDC102B,TMX3 NA10831,NA18854,NA18965 nsv438297 18 64446648 64452096 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470735 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18964 dgv3446n71 18 64498030 64721403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909806,nsv909807,nsv909808 M 6533 3 0 CCDC102B,TMX3 SP52057,SP81454,SP81491 esv268163 18 64550117 64550456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514519,essv2516641,essv2519259,essv2517500,essv2517022,essv2518759,essv2514814,essv2515339,essv2518571,essv2515047,essv2516592,essv2515554,essv2518079,essv2516141,essv2517845,essv2516218,essv2516827,essv2517367,essv2518851,essv2519454,essv2513732 M 157 21 0 Samples from several populations that are part of the HapMap project. CCDC102B NA07346,NA07347,NA11840,NA11881,NA11894,NA11918,NA11931,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18970,NA19239 esv274202 18 64550122 64550451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581992,essv2582493,essv2582933,essv2584861 M 7 4 0 Samples from several populations that are part of the HapMap project. CCDC102B NA12878,NA12891,NA12892,NA19239 esv1283313 18 64550155 64550155 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995888 S 2 1 0 CCDC102B HuRef esv2094660 18 64581728 64582166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924231 S 1 0 1 CCDC102B NA18507 nsv909809 18 64596256 64685792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588076 S 6533 1 0 CCDC102B IS38151 nsv833684 18 64596565 64777467 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454071 S 95 0 1 CCDC102B nsv507880 18 64624908 64630908 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623250 S 4 1 0 CCDC102B NA18994 nsv458144 18 64651976 64741759 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535162 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC102B HGDP00765 esv1339608 18 64675454 64675454 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829482 S 2 1 0 CCDC102B HuRef nsv520275 18 64681343 64721403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690070,nssv662321,nssv684755 M 2026 0 3 CCDC102B esv9513 18 64695059 64695113 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31954 S 1 1 0 CCDC102B SJK esv2597360 18 64722845 64723859 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162415 S 1 1 0 CCDC102B NA18507 esv273600 18 64723448 64723796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580791,essv2578869 M 7 2 0 Samples from several populations that are part of the HapMap project. CCDC102B NA19238,NA19239 esv271308 18 64723451 64723812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519249,essv2517519,essv2517090,essv2514181,essv2518638,essv2515119,essv2516493,essv2517967,essv2515927,essv2514442,essv2517713,essv2516239,essv2516845,essv2517182,essv2519110,essv2513810,essv2515273,essv2518868,essv2518239,essv2519422,essv2513714 M 157 21 0 Samples from several populations that are part of the HapMap project. CCDC102B NA07346,NA07347,NA11894,NA11918,NA11931,NA12043,NA12287,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 nsv131067 18 64723474 64723474 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149645 M 24 CCDC102B esv1721304 18 64723481 64723481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815501 S 2 1 0 CCDC102B HuRef nsv528146 18 64727217 64730589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704693 S 2026 0 1 CCDC102B nsv510463 18 64728376 64734376 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622282 S 4 0 1 CCDC102B NA10860 nsv909810 18 64756369 65065931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583337 S 6533 0 1 CCDC102B IS36424 nsv909811 18 64773253 64862553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537310 S 6533 0 1 CCDC102B MS13154 nsv909812 18 64780832 64839606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554463 S 6533 0 1 CCDC102B MS20813 dgv3447n71 18 64780832 64909808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909814,nsv909815,nsv909816,nsv909813 M 6533 0 4 CCDC102B IS36527,IS37065,SP50649,SP56007 nsv524761 18 64797539 64846196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700752 S 2026 0 1 CCDC102B nsv470431 18 64800790 64906488 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547118,nssv547117,nssv547110,nssv547103,nssv547111,nssv547102,nssv547100,nssv547113,nssv547105,nssv547116,nssv547109,nssv547104,nssv547119,nssv547114,nssv547115,nssv547106,nssv547108,nssv547107 M 443 18 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC102B HGDP00356,HGDP00655,HGDP00716,HGDP00953,HGDP01213,HGDP01227,HGDP01228,HGDP01297,HGDP01301,HGDP01357,HGDP01361,HGDP01362,HGDP01363,HGDP01364,HGDP01365,HGDP01366,HGDP01370,HGDP01383 nsv909817 18 64819792 64851614 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558180 S 6533 0 1 CCDC102B MS23147 nsv458147 18 64824572 64886115 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535163 S 1557 0 1 CCDC102B NINDS_223 dgv3448n71 18 64832896 64868487 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909819,nsv909818 M 6533 0 2 CCDC102B MS20618,MS22104 nsv470432 18 64836992 64886115 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547120 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC102B HGDP01286 nsv526548 18 64851232 64851614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702862 S 2026 0 1 CCDC102B nsv527349 18 64851232 64857835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703776 S 2026 0 1 CCDC102B nsv458168 18 64851232 64889909 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535165 S 1557 0 1 CCDC102B 1780854491_A esv2653298 18 64860665 64862138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267855 S 1 0 1 CCDC102B NA18507 nsv458171 18 64868487 65027016 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535166 S 1557 1 0 CCDC102B 1780854441_A nsv458172 18 64877649 64897188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535167 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01368 dgv3449n71 18 64877649 64904521 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909821,nsv909820 M 6533 2 0 "" IS35300,IS38151 dgv3450n71 18 64877649 64909808 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv909824,nsv909822 M 6533 5 8 "" MS10797,MS13567,MS15347,MS16944,MS22505,SP50073,SP51060,SP55663,SP55926,SP56120,SP56185,SP56914,SP58408 dgv3451n71 18 64879175 64909808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909823,nsv909825 M 6533 0 2 "" SP54606,SP57297 dgv1045e1 18 64888576 64903434 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5859,essv25103,essv1978 M 271 0 0 "" NA12814,NA18555,NA18942 dgv1046e1 18 64888576 64912007 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv618,essv7501,esv1004,essv2155,essv3324,essv2426,essv3830,essv3629,essv3257 M 271 0 0 "" NA18561,NA18948,NA18951,NA18953,NA18966,NA18967,NA18978,NA18998 dgv3452n71 18 64890061 64904521 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv909826,nsv909827 M 6533 7 3 "" IS31074,IS33073,IS34555,IS35236,IS39011,IS41189,MS10351,MS14522,MS15216,MS24733 dgv3453n71 18 64890061 64906488 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909829,nsv909828,nsv909831,nsv909833 M 6533 6 0 "" MS12542,MS13441,MS13783,MS17878,MS18715,MS23295 dgv3454n71 18 64890061 64909808 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv909830,nsv909834 M 6533 25 50 "" IS30054,IS32653,IS33846,IS34748,IS35549,IS40703,MS10102,MS10115,MS10195,MS11181,MS11312,MS11333,MS11669,MS11741,MS12071,MS12103,MS12837,MS13205,MS13232,MS13241,MS13444,MS13512,MS13762,MS14683,MS14855,MS15808,MS16038,MS17120,MS17492,MS17745,MS18240,MS18465,MS18494,MS18748,MS18779,MS18940,MS18966,MS20251,MS22764,MS22797,MS22840,MS26061,SP50176,SP50527,SP50755,SP51391,SP51450,SP52093,SP52094,SP52113,SP52625,SP52723,SP52902,SP52925,SP53490,SP53724,SP54223,SP54286,SP54383,SP54384,SP54544,SP54587,SP54617,SP54816,SP55381,SP55542,SP56132,SP56267,SP56937,SP57176,SP57193,SP57368,SP57803,SP57921,SP58310 nsv2346 18 64890559 64939249 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2201 S 9 0 1 "" NA18555 nsv909832 18 64892426 64905087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549206 S 6533 0 1 "" MS18130 nsv470433 18 64892426 64906488 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547129,nssv547148,nssv547150,nssv547141,nssv547151,nssv547147,nssv547132,nssv547145,nssv547127,nssv547131,nssv547121,nssv547152,nssv547140,nssv547144,nssv547133,nssv547143,nssv547159,nssv547158,nssv547125,nssv547155,nssv547142,nssv547126,nssv547124,nssv547136,nssv547153,nssv547138,nssv547137,nssv547130,nssv547149,nssv547154,nssv547122,nssv547128,nssv547156,nssv547139 M 443 0 34 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00491,HGDP00549,HGDP00550,HGDP00553,HGDP00554,HGDP00556,HGDP00568,HGDP00579,HGDP00580,HGDP00583,HGDP00586,HGDP00599,HGDP00629,HGDP00714,HGDP00717,HGDP00721,HGDP00876,HGDP00895,HGDP00948,HGDP00959,HGDP01046,HGDP01186,HGDP01216,HGDP01220,HGDP01222,HGDP01223,HGDP01224,HGDP01225,HGDP01318,HGDP01319,HGDP01323,HGDP01326,HGDP01371,HGDP01388 dgv557n67 18 64894605 64907951 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828291,nsv828293,nsv828292 M 31 0 8 "" AK12,AK18,NA18564,NA18942,NA18951,NA18968,NA18972,NA18997 nsv9641 18 64894789 64908244 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23472,nssv25001,nssv23708,nssv24643,nssv24550,nssv24524,nssv27358,nssv24393 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA07029,NA18563,NA18564,NA18942,NA18972,NA18980,NA19007 esv33492 18 64894834 64907837 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98224 S 51 0 1 "" 21772 dgv3455n71 18 64895268 64906488 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv909836,nsv909835,nsv909837,nsv909838 M 6533 12 38 "" MS11064,MS12353,MS12823,MS14388,MS15589,MS15752,MS15765,MS15916,MS17158,MS17879,MS18182,MS18431,MS18484,MS18829,MS19358,MS20237,MS20860,MS22103,MS23789,MS24584,MS25730,SP50843,SP50914,SP51108,SP52139,SP52455,SP52529,SP52700,SP52816,SP53287,SP53719,SP53859,SP53863,SP53998,SP54049,SP54239,SP54317,SP54471,SP54593,SP54967,SP55433,SP55715,SP56104,SP56128,SP56136,SP56144,SP57078,SP58047,SP58299,SP81263 dgv384n27 18 64895268 64906488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458181,nsv458180 M 1557 0 2 "" 1780862470_A,HGDP00491 dgv3456n71 18 64895268 64909808 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv909839,nsv909843 M 6533 45 977 "" IS30051,IS30076,IS30098,IS30129,IS30197,IS30238,IS30316,IS30340,IS30435,IS30473,IS31054,IS31169,IS31179,IS31317,IS31479,IS31570,IS31747,IS32289,IS32644,IS33143,IS33460,IS33493,IS33507,IS33544,IS33675,IS33676,IS33719,IS33757,IS33811,IS33975,IS34083,IS34111,IS34358,IS34473,IS34612,IS34697,IS34747,IS34825,IS34909,IS34970,IS35088,IS35099,IS35102,IS35280,IS35403,IS35471,IS35717,IS35789,IS36099,IS36248,IS36320,IS36411,IS36492,IS36512,IS36540,IS36785,IS36882,IS36887,IS37065,IS37207,IS37214,IS37577,IS37713,IS38054,IS38067,IS38075,IS38122,IS38123,IS38148,IS38293,IS38309,IS38352,IS38355,IS38403,IS38412,IS38445,IS38461,IS38487,IS38592,IS38599,IS38670,IS39116,IS39399,IS39426,IS39517,IS39528,IS39666,IS39788,IS40067,IS40297,IS40449,IS40673,IS40729,IS40785,IS40818,IS41041,IS41317,IS41511,IS41664,IS41703,IS41783,IS41819,IS41853,IS41868,MS10061,MS10103,MS10105,MS10109,MS10150,MS10164,MS10169,MS10184,MS10291,MS10361,MS10393,MS10444,MS10517,MS10535,MS10566,MS10574,MS10590,MS10593,MS10709,MS10722,MS10737,MS10778,MS10807,MS10820,MS10825,MS10840,MS10897,MS10937,MS10942,MS10950,MS10951,MS10999,MS11032,MS11058,MS11078,MS11084,MS11194,MS11243,MS11257,MS11271,MS11306,MS11326,MS11337,MS11364,MS11389,MS11497,MS11547,MS11550,MS11858,MS11883,MS11923,MS11980,MS12033,MS12076,MS12088,MS12154,MS12157,MS12217,MS12262,MS12347,MS12387,MS12432,MS12439,MS12461,MS12510,MS12520,MS12539,MS12564,MS12577,MS12615,MS12624,MS12634,MS12642,MS12667,MS12719,MS12727,MS12743,MS12822,MS12876,MS12883,MS12938,MS12963,MS12986,MS12991,MS13002,MS13019,MS13028,MS13058,MS13098,MS13143,MS13148,MS13154,MS13162,MS13207,MS13219,MS13252,MS13293,MS13294,MS13317,MS13330,MS13336,MS13358,MS13360,MS13428,MS13430,MS13451,MS13469,MS13487,MS13491,MS13511,MS13552,MS13605,MS13735,MS13751,MS13777,MS13793,MS13810,MS13819,MS13872,MS14019,MS14093,MS14101,MS14284,MS14290,MS14295,MS14309,MS14313,MS14324,MS14384,MS14450,MS14469,MS14512,MS14518,MS14591,MS14658,MS14679,MS14714,MS14724,MS14761,MS14764,MS14805,MS14809,MS14872,MS14888,MS14897,MS14953,MS14984,MS14993,MS15097,MS15103,MS15150,MS15165,MS15232,MS15242,MS15291,MS15307,MS15342,MS15398,MS15427,MS15429,MS15479,MS15480,MS15541,MS15545,MS15601,MS15630,MS15637,MS15715,MS15771,MS15804,MS15867,MS15873,MS15877,MS15922,MS15942,MS16008,MS16049,MS16056,MS16124,MS16126,MS16158,MS16188,MS16192,MS16208,MS16211,MS16214,MS16228,MS16308,MS16323,MS16352,MS16393,MS16406,MS16423,MS16493,MS16494,MS16506,MS16537,MS16559,MS16607,MS16621,MS16667,MS16697,MS16711,MS16740,MS16809,MS16837,MS16851,MS16852,MS16863,MS17017,MS17019,MS17043,MS17128,MS17204,MS17221,MS17231,MS17232,MS17255,MS17275,MS17285,MS17321,MS17335,MS17421,MS17431,MS17450,MS17485,MS17501,MS17536,MS17537,MS17554,MS17563,MS17605,MS17618,MS17624,MS17689,MS17691,MS17705,MS17751,MS17760,MS17773,MS17779,MS17788,MS17802,MS17817,MS17820,MS17906,MS17968,MS18028,MS18080,MS18108,MS18124,MS18159,MS18195,MS18209,MS18217,MS18226,MS18263,MS18276,MS18311,MS18333,MS18348,MS18368,MS18376,MS18392,MS18414,MS18451,MS18453,MS18485,MS18599,MS18677,MS18694,MS18740,MS18815,MS18819,MS18828,MS18837,MS18848,MS18876,MS18976,MS19017,MS19023,MS19062,MS19177,MS19184,MS19267,MS19334,MS19345,MS19372,MS19454,MS19553,MS19571,MS19630,MS19637,MS19649,MS19683,MS19685,MS19756,MS19766,MS19917,MS19922,MS19955,MS20009,MS20037,MS20120,MS20239,MS20305,MS20355,MS20356,MS20367,MS20406,MS20546,MS20632,MS20655,MS20681,MS20690,MS20725,MS20741,MS20771,MS20797,MS20813,MS20843,MS20872,MS20919,MS20997,MS21059,MS21117,MS21136,MS21162,MS21192,MS21194,MS21262,MS21309,MS21397,MS21420,MS21457,MS21465,MS21470,MS21517,MS21528,MS21709,MS21730,MS21776,MS21840,MS21857,MS21863,MS22000,MS22112,MS22146,MS22154,MS22207,MS22252,MS22268,MS22321,MS22343,MS22421,MS22440,MS22492,MS22494,MS22590,MS22601,MS22644,MS22754,MS22756,MS22798,MS22854,MS22894,MS22928,MS22930,MS22962,MS22970,MS22998,MS23054,MS23086,MS23160,MS23163,MS23178,MS23189,MS23191,MS23205,MS23236,MS23301,MS23340,MS23401,MS23456,MS23488,MS23579,MS23628,MS23669,MS23697,MS23705,MS23758,MS23787,MS23805,MS23958,MS23997,MS24001,MS24003,MS24015,MS24046,MS24051,MS24056,MS24100,MS24101,MS24103,MS24108,MS24139,MS24141,MS24193,MS24202,MS24245,MS24248,MS24260,MS24350,MS24357,MS24360,MS24419,MS24426,MS24447,MS24459,MS24461,MS24479,MS24489,MS24533,MS24589,MS24605,MS24624,MS24651,MS24670,MS24705,MS24736,MS24781,MS24785,MS24796,MS24833,MS24837,MS24854,MS24873,MS24877,MS24900,MS24932,MS24940,MS24951,MS24997,MS25021,MS25028,MS25087,MS25092,MS25101,MS25190,MS25219,MS25239,MS25280,MS25394,MS25436,MS25447,MS25511,MS25529,MS25553,MS25588,MS25589,MS25617,MS25653,MS25669,MS25675,MS25696,MS25710,MS25725,MS25731,MS25751,MS25755,MS25768,MS25771,MS25792,MS25801,MS25814,MS25839,MS25939,MS25940,MS25941,MS25943,MS25946,MS25968,MS25983,MS26001,MS26069,MS26100,MS26121,MS26128,MS26144,SP50043,SP50080,SP50097,SP50117,SP50119,SP50128,SP50153,SP50170,SP50177,SP50520,SP50521,SP50537,SP50555,SP50559,SP50561,SP50569,SP50622,SP50624,SP50629,SP50631,SP50685,SP50690,SP50694,SP50713,SP50766,SP50767,SP50774,SP50802,SP50822,SP50823,SP50825,SP50831,SP50839,SP50850,SP50870,SP50877,SP50921,SP50940,SP50943,SP50963,SP50973,SP51022,SP51025,SP51030,SP51037,SP51042,SP51043,SP51065,SP51069,SP51084,SP51086,SP51087,SP51105,SP51109,SP51111,SP51123,SP51132,SP51134,SP51158,SP51175,SP51178,SP51196,SP51197,SP51203,SP51206,SP51218,SP51257,SP51290,SP51300,SP51332,SP51338,SP51342,SP51345,SP51359,SP51387,SP51389,SP51402,SP51403,SP51422,SP51436,SP51449,SP51483,SP51499,SP52019,SP52052,SP52077,SP52080,SP52082,SP52109,SP52165,SP52193,SP52197,SP52224,SP52234,SP52255,SP52274,SP52328,SP52338,SP52353,SP52359,SP52428,SP52448,SP52464,SP52470,SP52500,SP52543,SP52552,SP52553,SP52571,SP52572,SP52574,SP52593,SP52612,SP52677,SP52680,SP52685,SP52692,SP52701,SP52716,SP52751,SP52787,SP52851,SP52859,SP52893,SP52904,SP52914,SP52921,SP52986,SP53023,SP53041,SP53044,SP53048,SP53131,SP53144,SP53147,SP53221,SP53240,SP53260,SP53342,SP53344,SP53401,SP53412,SP53413,SP53441,SP53458,SP53493,SP53513,SP53515,SP53527,SP53550,SP53585,SP53596,SP53685,SP53709,SP53725,SP53732,SP53776,SP53803,SP53834,SP53883,SP53972,SP54026,SP54050,SP54060,SP54063,SP54069,SP54078,SP54083,SP54090,SP54095,SP54099,SP54108,SP54119,SP54139,SP54162,SP54171,SP54183,SP54191,SP54230,SP54249,SP54345,SP54355,SP54362,SP54389,SP54406,SP54430,SP54434,SP54455,SP54477,SP54480,SP54509,SP54516,SP54535,SP54583,SP54604,SP54614,SP54620,SP54627,SP54636,SP54650,SP54652,SP54681,SP54684,SP54685,SP54704,SP54747,SP54750,SP54753,SP54812,SP54836,SP54845,SP54853,SP54857,SP54892,SP54936,SP54937,SP54957,SP54958,SP54966,SP54983,SP54993,SP55056,SP55074,SP55075,SP55086,SP55100,SP55110,SP55121,SP55122,SP55131,SP55132,SP55152,SP55156,SP55160,SP55165,SP55167,SP55212,SP55264,SP55278,SP55302,SP55310,SP55339,SP55346,SP55352,SP55360,SP55369,SP55401,SP55407,SP55424,SP55465,SP55469,SP55470,SP55511,SP55531,SP55557,SP55569,SP55611,SP55621,SP55650,SP55655,SP55660,SP55677,SP55684,SP55692,SP55695,SP55698,SP55717,SP55749,SP55750,SP55765,SP55787,SP55797,SP55800,SP55804,SP55829,SP55842,SP55856,SP55868,SP55966,SP55971,SP55984,SP55996,SP56003,SP56007,SP56013,SP56023,SP56029,SP56042,SP56085,SP56089,SP56114,SP56271,SP56324,SP56331,SP56342,SP56350,SP56370,SP56373,SP56381,SP56385,SP56387,SP56395,SP56410,SP56418,SP56457,SP56467,SP56539,SP56543,SP56580,SP56653,SP56658,SP56734,SP56757,SP56783,SP56788,SP56795,SP56811,SP56818,SP56828,SP56845,SP56851,SP56861,SP56862,SP56880,SP56889,SP56909,SP56922,SP56959,SP56976,SP57005,SP57022,SP57042,SP57045,SP57250,SP57254,SP57266,SP57278,SP57322,SP57347,SP57376,SP57408,SP57455,SP57489,SP57501,SP57534,SP57545,SP57593,SP57634,SP57654,SP57679,SP57681,SP57742,SP57771,SP57779,SP57789,SP57817,SP57856,SP57873,SP57884,SP57950,SP57970,SP58026,SP58168,SP58182,SP58202,SP58236,SP58377,SP58433,SP58443,SP58537,SP58553,SP58575,SP80909,SP80914,SP80924,SP80925,SP80928,SP80930,SP80947,SP80960,SP80988,SP81006,SP81024,SP81039,SP81040,SP81059,SP81060,SP81061,SP81064,SP81090,SP81091,SP81095,SP81120,SP81127,SP81132,SP81141,SP81143,SP81149,SP81156,SP81160,SP81181,SP81187,SP81191,SP81202,SP81213,SP81226,SP81239,SP81240,SP81242,SP81264,SP81273,SP81275,SP81324,SP81326,SP81339,SP81361,SP81367,SP81385,SP81389,SP81399,SP81469,SP81471,SP81485,SP81501,SP81534,SP81543,SP81553,SP81554,SP81560 nsv909840 18 64895268 64909977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559113 S 6533 0 1 "" MS23714 dgv3457n71 18 64895268 64916195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909841,nsv909844 M 6533 0 8 "" IS30423,IS41224,MS17678,MS18487,MS18752,MS20011,MS22971,SP58008 nsv498887 18 64896574 64907984 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585748 S 9 0 1 "" nsv442757 18 64897086 64904306 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421893 18 64897086 64906488 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156879,essv5019655,essv5026709,essv5069448,essv5069348,essv5116661,essv5100673,essv5029328,essv5103882,essv5005390,essv5036880,essv5052438,essv5072240,essv5014429,essv5045338,essv5003814,essv5038268,essv5038818,essv5138805,essv5098213,essv5036717,essv5091324,essv5099002,essv5092558,essv5083246,essv5092793,essv5079827,essv5070225,essv5007072,essv5158942,essv5024290,essv5007054,essv5134067,essv5160888,essv5073256,essv5027797,essv5147539,essv5013871,essv5016361,essv5103207,essv5031087,essv5068571,essv5080152,essv5023840,essv5076855,essv5071816,essv5002080,essv5039738,essv5092923,essv5017611,essv5127684,essv5065638,essv5159014,essv5030620,essv5055386,essv5100065,essv5156555,essv5138774,essv5098195,essv5136976,essv5129758,essv5109309,essv5017993,essv5152880,essv5092585,essv5058507,essv5145373,essv5128630,essv5127861,essv5099210,essv5112048,essv5095612,essv5143545,essv5121061,essv5055270,essv5101580,essv5004495,essv5106411,essv5018916,essv5127425,essv5068817,essv5111433,essv5152443,essv5025662,essv5080360,essv5132009,essv5154568,essv5102103,essv5013145,essv5122963,essv5116084,essv5126333,essv5032676,essv5158354,essv5056097,essv5080027,essv5095557,essv5070312,essv5114441,essv5003021,essv5099918,essv5101809,essv5155559,essv5016666,essv5048899,essv5127005,essv5148769,essv5128136,essv5015798 M 1184 0 109 "" NA06994,NA07029,NA10852,NA12045,NA12275,NA12767,NA12778,NA12814,NA17968,NA17974,NA17975,NA17987,NA17993,NA18101,NA18107,NA18108,NA18114,NA18125,NA18133,NA18134,NA18141,NA18149,NA18150,NA18151,NA18153,NA18157,NA18158,NA18161,NA18534,NA18544,NA18555,NA18561,NA18563,NA18564,NA18577,NA18579,NA18596,NA18597,NA18610,NA18614,NA18631,NA18634,NA18636,NA18639,NA18643,NA18670,NA18674,NA18740,NA18745,NA18748,NA18757,NA18939,NA18942,NA18943,NA18948,NA18951,NA18953,NA18961,NA18962,NA18963,NA18964,NA18966,NA18967,NA18968,NA18972,NA18976,NA18977,NA18978,NA18980,NA18981,NA18987,NA18994,NA18997,NA18998,NA19001,NA19005,NA19007,NA19009,NA19054,NA19055,NA19058,NA19063,NA19067,NA19070,NA19076,NA19083,NA19086,NA19087,NA19318,NA19678,NA19776,NA19777,NA20524,NA20752,NA20771,NA20773,NA20858,NA20861,NA21301,NA21302,NA21364,NA21424,NA21454,NA21455,NA21488,NA21490,NA21526,NA21527,NA21583 nsv458183 18 64897188 64901130 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535171 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00967 nsv458189 18 64897188 64905087 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535177 S 1557 1 0 "" 1780862076_A dgv27n64 18 64897188 64906488 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817803,nsv817804,nsv817802 M 112 0 9 "" NA06994,NA07029,NA18577,NA18951,NA18953,NA18968,NA18972,NA18978,NA18987 dgv3458n71 18 64897188 64906488 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909842,nsv909846 M 6533 0 3 "" MS18153,SP54760,SP57217 dgv385n27 18 64897188 64906488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458205,nsv458214,nsv458208,nsv458211,nsv458193,nsv458203,nsv458192,nsv458198,nsv458204,nsv458210,nsv458209,nsv458190,nsv458215,nsv458213,nsv458188,nsv458212,nsv458202,nsv458216,nsv458206,nsv458217,nsv458187,nsv458220,nsv458191,nsv458201,nsv458194,nsv458197,nsv458195,nsv458186,nsv458199,nsv458200,nsv458184 M 1557 0 31 "" 1780854016_A,1780854512_A,1780862520_A,1782681555_A,1788485589_A,HGDP00338,HGDP00545,HGDP00553,HGDP00599,HGDP00629,HGDP00757,HGDP00778,HGDP00813,HGDP00815,HGDP00832,HGDP00845,HGDP00876,HGDP01044,HGDP01072,HGDP01096,HGDP01098,HGDP01099,HGDP01186,HGDP01220,HGDP01250,HGDP01288,HGDP01290,HGDP01293,HGDP01339,NINDS_125,NINDS_173 nsv438298 18 64897188 64906488 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470736,nssv470737,nssv470738 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18564,NA18964,NA18976 dgv386n27 18 64897188 64909808 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458245,nsv458246 M 1557 0 2 "" 1780862019_A,HGDP01310 nsv517241 18 64897188 64909808 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672110,nssv668155,nssv678299,nssv666455,nssv676467,nssv685615,nssv692121,nssv673267,nssv689486,nssv671262,nssv664550,nssv681871,nssv659798,nssv693934,nssv687559,nssv678190,nssv678322,nssv686711,nssv687209,nssv670148,nssv691204,nssv654843,nssv663396,nssv653158,nssv672703,nssv652284,nssv688025,nssv667993,nssv681058,nssv688995,nssv685335,nssv664804,nssv671521,nssv670734,nssv680998,nssv685513,nssv673825,nssv653742,nssv679826,nssv677767,nssv684006,nssv661652,nssv662600,nssv670879,nssv678809,nssv656745,nssv669339,nssv675697,nssv675831,nssv657020,nssv689649,nssv677262,nssv678570,nssv666281,nssv667895,nssv668131,nssv654178,nssv651983,nssv693207,nssv672403,nssv674024,nssv689175,nssv676905,nssv686086,nssv671607,nssv657139,nssv675961,nssv679520,nssv679223,nssv665865,nssv690564,nssv680276,nssv683104,nssv664253,nssv673561,nssv654625,nssv665316,nssv689241,nssv670313,nssv666318,nssv672029,nssv667320,nssv659367,nssv652564,nssv667680,nssv693513,nssv677943,nssv657716,nssv665064,nssv686810,nssv662574,nssv657183,nssv693134,nssv681021,nssv653081,nssv692968,nssv691352,nssv686791,nssv678376,nssv680264,nssv654156,nssv675542,nssv665206,nssv660511,nssv673992,nssv674456,nssv655033,nssv673923,nssv672863 M 2026 0 109 "" nsv433314 18 64897188 64923013 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463195 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18555 nsv514884 18 64897288 64907444 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628322 S 1414 0 1 "" dgv1047e1 18 64897804 64903434 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2402,essv1556,essv1586,essv3587,essv6483,essv5964,essv1005 M 271 0 0 "" NA18577,NA18636,NA18964,NA18976,NA18987,NA18997,NA19012 dgv1048e1 18 64897804 64912007 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv95,essv20456,essv18880,essv3678,essv1304,essv1643,essv1688,essv5626,essv2959 M 271 0 0 "" NA06994,NA07029,NA18579,NA18943,NA18961,NA18968,NA18972,NA18980,NA19005 dgv387n27 18 64898548 64906488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458255,nsv458248,nsv458254,nsv458258,nsv458250,nsv458251,nsv458256,nsv458249,nsv458259,nsv458253,nsv458257,nsv458247 M 1557 0 12 "" 1780854567_A,HGDP00724,HGDP00768,HGDP01189,HGDP01319,HGDP01323,HGDP01378,NINDS_106,NINDS_120,NINDS_174,NINDS_3,NINDS_78 dgv3459n71 18 64898548 64909808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909845,nsv909848,nsv909849 M 6533 0 10 "" MS11298,MS11331,MS13363,MS17319,MS17953,MS26140,SP57689,SP80955,SP81251,SP81488 nsv909847 18 64899349 64909808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528371 S 6533 1 0 "" SP81203 dgv388n27 18 64901130 64906488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458264,nsv458271,nsv458268,nsv458269,nsv458260,nsv458270,nsv458261,nsv458267,nsv458265,nsv458262,nsv458266 M 1557 0 11 "" 1780854105_A,1782681092_A,HGDP00550,HGDP00597,HGDP00819,HGDP00852,HGDP01059,HGDP01193,HGDP01244,HGDP01307,HGDP01326 dgv1049e1 18 64902064 64903434 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv972,essv190 M 271 0 0 "" NA18981,NA18994 dgv135e55 18 64902064 64903434 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34330,esv35029 M 771 0 2 "" NA18964,NA18976 nsv817805 18 64902105 64906488 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417662 S 112 0 1 "" NA18994 dgv389n27 18 64902105 64909977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458272,nsv458273 M 1557 0 2 "" 1780854463_A,HGDP00104 nsv909850 18 64934020 65034941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558769 S 6533 0 1 "" MS23531 esv32736 18 64953366 67496827 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98793,essv98138,essv99133,essv97234 M 51 2 2 CD226,DOK6,LOC100505776,RTTN,SOCS6 21606,21772,21938,22075 nsv507881 18 64969163 64975163 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619209 S 4 1 0 "" NA10860 nsv522658 18 65053505 65062249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706060 S 2026 0 1 "" nsv518376 18 65062093 65062249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694230 S 2026 0 1 "" nsv525797 18 65062093 65062249 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701979 S 2026 1 0 "" nsv525414 18 65080512 65084648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701538 S 2026 0 1 "" nsv458275 18 65098328 65134861 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535239 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01297 esv1000782 18 65118643 65128088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565801 S 3 0 1 "" HuRef esv2423223 18 65143181 65145800 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193442 S 1 0 1 "" NA18507 esv1936317 18 65143614 65145251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4781059 S 1 0 1 "" NA18507 esv23707 18 65143723 65145055 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13481 S 451 0 9 "" NA12489,NA18502,NA18517,NA18523,NA18858,NA18861,NA18907,NA19190,NA19240 esv2971 18 65143753 65145179 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25412 S 1 0 1 Single Asian sample YH "" YH esv993396 18 65143780 65145055 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586094 S 3 0 1 "" HuRef esv990943 18 65143795 65145074 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581898 S 3 0 1 "" HuRef esv5458 18 65143797 65145074 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27899 S 1 0 1 "" SJK nsv524293 18 65171953 65173597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700194 S 2026 0 1 "" nsv828294 18 65184114 65199486 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421897 S 31 0 1 "" NA18969 nsv909851 18 65217529 65328879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596867,nssv1555433 M 6533 0 2 DOK6 IS40657,MS21325 nsv523105 18 65237600 65296049 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698801 S 2026 1 0 DOK6 esv26936 18 65300586 65302558 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20388 S 451 0 3 DOK6 NA07045,NA18523,NA18916 nsv515792 18 65300853 65302586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665054,nssv663729,nssv689953,nssv664805,nssv660671,nssv680771,nssv675503,nssv683003,nssv660975,nssv657442,nssv668204,nssv666127,nssv654287,nssv684673,nssv684595,nssv656094,nssv655304,nssv670347,nssv675884,nssv656356,nssv656822 M 2026 0 21 DOK6 nsv437829 18 65302586 65311575 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467710 S 60 0 1 Samples from several populations that are part of the HapMap project. DOK6 NA19103 nsv909852 18 65302586 65328879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557870 S 6533 0 1 DOK6 MS22959 nsv909853 18 65302586 65346421 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588078 S 6533 1 0 DOK6 IS38151 esv268666 18 65311015 65311354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557837,essv2576105,essv2540815,essv2546333,essv2526017,essv2522682,essv2556622,essv2568065,essv2531987,essv2570582,essv2521820,essv2576545,essv2525439,essv2550267,essv2535439,essv2552020,essv2520517,essv2547415,essv2564749,essv2577857,essv2553737,essv2559565,essv2520105,essv2554881,essv2561843,essv2552632,essv2551853,essv2532302,essv2558770,essv2564867,essv2522168,essv2570129,essv2553373,essv2551191,essv2528083,essv2527524,essv2531327,essv2573535,essv2529466,essv2575561,essv2538740,essv2568651,essv2536257,essv2537896,essv2549046,essv2554657,essv2525009,essv2563470 M 157 48 0 Samples from several populations that are part of the HapMap project. DOK6 NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11918,NA11931,NA11994,NA11995,NA12006,NA12044,NA12144,NA12154,NA12156,NA12234,NA12249,NA12489,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12815,NA12872,NA12874,NA18502,NA18504,NA18505,NA18516,NA18558,NA18571,NA18593,NA18605,NA18858,NA18907,NA18952,NA18961,NA18964,NA19093,NA19099,NA19108,NA19147 esv1507792 18 65311046 65311046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203255 S 2 1 0 DOK6 HuRef nsv909854 18 65320974 65346421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591776 S 6533 0 1 DOK6 IS39011 dgv3460n71 18 65330234 65346421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909856,nsv909857,nsv909858,nsv909855 M 6533 0 10 DOK6 IS31205,IS35229,MS10228,MS10737,MS14848,MS19487,MS21252,MS25751,SP55694,SP57314 nsv528494 18 65332189 65340340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705099 S 2026 0 1 DOK6 dgv3461n71 18 65349636 65673014 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909860,nsv909859 M 6533 2 0 DOK6 SP51144,SP53812 nsv909861 18 65357521 65368522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499871 S 6533 0 1 DOK6 SP50137 nsv517162 18 65358832 65367619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684007,nssv668350,nssv690622,nssv667047,nssv690510,nssv662249,nssv670138,nssv685692,nssv661123,nssv668902,nssv652067,nssv677471,nssv673254,nssv673341,nssv658348,nssv684489,nssv675056,nssv657739,nssv687774,nssv691205,nssv668988,nssv655826,nssv666030,nssv676130,nssv674146,nssv668173,nssv668078,nssv677425,nssv686087,nssv678393,nssv654695,nssv662406,nssv656229,nssv669965,nssv669622,nssv682173,nssv683922,nssv675294,nssv664895,nssv683340,nssv677812,nssv675308,nssv669429,nssv692206,nssv664576,nssv666282,nssv654376,nssv667344,nssv688279,nssv668509,nssv656117,nssv654825,nssv662490,nssv675170,nssv687210,nssv659560,nssv669772,nssv680594,nssv657952,nssv656728,nssv675523,nssv657021,nssv680126,nssv673126,nssv652343,nssv669340,nssv652959,nssv670269,nssv686000,nssv679224,nssv666419,nssv657002,nssv669357,nssv655904,nssv667426,nssv679172,nssv676894,nssv682843,nssv686977,nssv659870,nssv671489,nssv666754,nssv665149,nssv671347,nssv675109,nssv672282,nssv667199,nssv673084,nssv678474,nssv673140,nssv666100,nssv691294,nssv703114,nssv687791,nssv657586,nssv672017,nssv653900,nssv664455,nssv671746,nssv684255,nssv672962,nssv679000,nssv688491,nssv678670,nssv666494,nssv652531 M 2026 0 106 DOK6 esv2421592 18 65358832 65368251 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132012,essv5012407,essv5109979,essv5136519,essv5076530,essv5125890,essv5090544,essv5111763,essv5151536,essv5028210,essv5159998,essv5053244,essv5048341,essv5132076,essv5064066,essv5086604,essv5128094,essv5069385,essv5063435,essv5077404,essv5084859,essv5085994,essv5138657,essv5139760,essv5081344,essv5087851,essv5027386,essv5153051,essv5129376,essv5065786,essv5099765,essv5065983,essv5052470,essv5097795,essv5056380,essv5132266,essv5098726,essv5033184,essv5156989,essv5030204,essv5006767 M 1184 0 41 DOK6 NA06984,NA06991,NA06993,NA07345,NA10847,NA11917,NA11931,NA11994,NA12146,NA12753,NA12762,NA12818,NA12830,NA17975,NA17979,NA18160,NA18536,NA18562,NA18670,NA18694,NA18972,NA18979,NA18987,NA19658,NA19669,NA19678,NA20322,NA20527,NA20530,NA20531,NA20581,NA20582,NA20774,NA20796,NA20811,NA20847,NA20877,NA21086,NA21091,NA21094,NA21137 nsv442449 18 65358832 65368255 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DOK6 esv2861 18 65359293 65368505 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25302 S 1 0 1 Single Asian sample YH DOK6 YH nsv828295 18 65359366 65368402 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433334 S 31 0 1 DOK6 NA18972 nsv458276 18 65359372 65361327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535240 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOK6 HGDP00692 dgv390n27 18 65359372 65367619 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458278,nsv458279,nsv458277 M 1557 0 3 DOK6 1798860567_A,HGDP00543,HGDP00545 nsv817807 18 65359372 65367619 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418032,nssv1418412,nssv1418226,nssv1417574,nssv1418215,nssv1417628,nssv1418411,nssv1415922 M 112 0 8 DOK6 NA06991,NA06993,NA07345,NA10847,NA11994,NA12146,NA18972,NA18987 esv24037 18 65359374 65368451 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17105 S 451 0 1 DOK6 NA11931 nsv514885 18 65359516 65367884 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628323 S 1414 0 1 DOK6 nsv909862 18 65414207 65457993 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548822 S 6533 1 0 DOK6 MS17878 nsv510747 18 65428971 65491611 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622737 S 4 0 1 DOK6 NA18994 nsv510464 18 65434246 65440246 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618441,nssv621458 M 4 0 2 DOK6 CHM,NA15510 esv2268046 18 65434503 65434923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859942 S 1 0 1 DOK6 NA18507 esv1008327 18 65434631 65434711 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569292 S 3 0 1 DOK6 HuRef esv1633222 18 65434652 65434733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776899 S 2 0 1 DOK6 HuRef nsv131554 18 65435566 65435709 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150132 M 24 DOK6 nsv833685 18 65440677 65581946 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454072 S 95 0 1 DOK6 nsv909863 18 65487173 65526556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531338 S 6533 0 1 DOK6 MS10393 nsv909864 18 65487173 65537261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588079 S 6533 1 0 DOK6 IS38151 nsv909865 18 65487173 65563874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539741 S 6533 0 1 DOK6 MS14485 nsv520983 18 65491819 65492342 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697721 S 2026 0 1 DOK6 nsv510748 18 65558741 65624318 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622738 S 4 0 1 DOK6 NA18994 esv1558164 18 65578942 65579042 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292789 S 2 0 1 DOK6 HuRef nsv523563 18 65613506 65624033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699344 S 2026 0 1 DOK6 nsv909866 18 65614315 65633130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574083,nssv1532696,nssv1580150 M 6533 0 3 DOK6 IS33507,IS35229,MS10802 nsv909867 18 65700586 65787044 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548823 S 6533 1 0 CD226 MS17878 nsv2347 18 65733845 65762749 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4331 S 9 1 0 CD226 NA12878 nsv510465 18 65854097 65860097 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624199 S 4 0 1 RTTN NA18994 nsv833686 18 65856695 66078429 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454085,nssv1454075,nssv1454101,nssv1454103,nssv1454093,nssv1454074,nssv1454081,nssv1454077,nssv1454082,nssv1454105,nssv1454104,nssv1454102,nssv1454083,nssv1454084,nssv1454080,nssv1454076,nssv1454073,nssv1454079,nssv1454086,nssv1454092,nssv1454100,nssv1454098,nssv1454095,nssv1454087,nssv1454097,nssv1454099,nssv1454078,nssv1454091,nssv1454094,nssv1454090,nssv1454088,nssv1454096,nssv1454089 M 95 33 0 RTTN esv2517385 18 66099728 66101317 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355728 S 1 0 1 "" NA18507 esv2071031 18 66100380 66101109 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715759 S 1 0 1 "" NA18507 esv4899 18 66100499 66101046 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27340 S 1 0 1 Single Asian sample YH "" YH esv5968 18 66100563 66100903 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28409 S 1 0 1 "" SJK nsv820398 18 66104005 66106574 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420002 S 1 0 1 "" NA10851 nsv819931 18 66104327 66106410 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419383 S 2 1 0 "" AK1 dgv558n67 18 66104549 66106508 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828300,nsv828298,nsv828296,nsv828299 M 31 27 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 esv27218 18 66104674 66106294 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10437 S 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv34014 18 66128281 66625936 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SOCS6 nsv909868 18 66224737 66276162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548824 S 6533 1 0 "" MS17878 esv271643 18 66247999 66248084 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516591,essv2515702,essv2516184,essv2513569 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12814,NA12815,NA12891 esv273453 18 66248001 66248260 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580440,essv2579998 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 nsv521302 18 66255570 66311554 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697908 S 2026 1 0 "" nsv458280 18 66269897 66315754 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535244 S 1557 1 0 "" 1780854103_A nsv2348 18 66274064 66292408 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1423 S 9 1 0 "" NA19240 esv2472402 18 66274127 66274962 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391673 S 1 1 0 "" NA18507 nsv509697 18 66276899 66288668 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619730,nssv618128,nssv621052 M 4 3 0 "" CHM,NA10860,NA15510 esv2627685 18 66283407 66283867 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238393 S 1 1 0 "" NA18507 esv34035 18 66293394 66625936 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv526009 18 66392248 66395965 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702237 S 2026 0 1 "" nsv526953 18 66460710 66947697 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703325 S 2026 1 0 "" nsv458281 18 66476676 67093543 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535245 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01228 nsv909869 18 66489923 66575175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561212 S 6533 0 1 "" MS24877 nsv833687 18 66518156 66661891 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454106 S 95 1 0 "" esv267497 18 66589237 66589418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503177,essv2508570,essv2508906,essv2500301,essv2502752,essv2493295,essv2509693,essv2512647,essv2500992,essv2511693,essv2502477,essv2506967 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12717,NA12878,NA12891,NA12892,NA18504,NA18508,NA18577,NA18856,NA18940,NA18948,NA19102 esv272284 18 66589238 66589543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581658,essv2582552,essv2583025 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv528516 18 66619564 66623186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705124 S 2026 0 1 "" nsv833688 18 66650944 66823918 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454107 S 95 1 0 "" esv2531500 18 66651493 66652911 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288787 S 1 0 1 "" NA18507 nsv521094 18 66728791 66739200 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697783 S 2026 0 1 "" nsv517694 18 66735202 66739200 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669152,nssv661441,nssv652866,nssv656802,nssv667173,nssv680706,nssv677575 M 2026 2 5 "" nsv470434 18 66755666 67098989 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547160 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01228 nsv524500 18 66775973 66779058 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700442 S 2026 1 0 "" dgv3462n71 18 66838729 67514725 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909870,nsv909871 M 6533 2 0 LOC100505776 IS38436,IS40625 nsv2349 18 66872083 66906930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4332 S 9 1 0 "" NA12878 esv2627036 18 66874401 66875945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291141 S 1 0 1 "" NA18507 esv1983983 18 66875174 66875845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646758 S 1 0 1 "" NA18507 nsv131232 18 66875348 66875657 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149810 M 24 "" nsv909872 18 66901235 67188947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588746 S 6533 1 0 "" IS38239 nsv510749 18 66945895 66951767 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622739 S 4 0 1 "" NA18994 esv27748 18 66946477 66947388 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20042 S 451 0 1 "" NA19129 nsv817808 18 66947425 66952836 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416979 S 112 0 1 "" NA19137 nsv2350 18 66959625 66993795 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2986 S 9 1 0 "" NA18555 esv2539222 18 66966400 66967794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329729 S 1 0 1 "" NA18507 nsv909873 18 66968691 67008297 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538023 S 6533 1 0 "" MS13451 nsv909874 18 66973308 67008297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566550 S 6533 0 1 "" IS30775 esv2751778 18 66996822 67218979 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985009,essv6988931,essv6988878,essv6987141 M 771 1 0 "" SPC_31 esv999748 18 66997320 66998367 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564644 S 3 0 1 "" HuRef esv2340736 18 66997525 66998237 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506646 S 1 0 1 "" NA18507 esv5034 18 66997657 66998176 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27475 S 1 0 1 Single Asian sample YH "" YH esv7401 18 66997718 66998040 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29842 S 1 0 1 "" SJK esv987774 18 66997718 66998051 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570770 S 3 0 1 "" HuRef esv1021302 18 66997721 66998055 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331631 S 2 0 1 "" HuRef nsv131331 18 66997722 66998055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149909 M 24 "" dgv391n27 18 67001714 67059331 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458283,nsv458286,nsv458284 M 1557 0 3 "" 1780862093_A,1780862180_A,1780862416_A esv1237205 18 67016751 67016751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610163 S 2 1 0 "" HuRef dgv3463n71 18 67044705 67188947 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909875,nsv909876,nsv909877 M 6533 0 3 "" IS40902,IS41780,MS23531 dgv559n67 18 67065211 67066560 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828301,nsv828302 M 31 0 3 "" AK14,NA18564,NA18582 nsv909878 18 67103877 67188947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588080 S 6533 1 0 "" IS38151 esv993213 18 67109629 67115921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564591 S 3 0 1 "" HuRef nsv909879 18 67117031 67188947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578362,nssv1563992,nssv1539742 M 6533 0 3 "" IS30141,IS34762,MS14485 nsv526784 18 67179878 67247130 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703136 S 2026 0 1 "" nsv458287 18 67221595 67250588 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535250 S 1557 0 1 "" NINDS_84 nsv512545 18 67228341 67230337 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625150 S 1 0 1 "" 1 esv2525692 18 67228735 67230653 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225854 S 1 0 1 "" NA18507 nsv131636 18 67229375 67230032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150214 M 24 "" esv1645716 18 67246375 67246590 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131611 S 2 0 1 "" HuRef nsv828303 18 67247911 67248426 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426251 S 31 1 0 "" AK4 nsv833689 18 67255112 67415521 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454108 S 95 0 1 LOC100505776 nsv909880 18 67280091 67339871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503665 S 6533 0 1 LOC100505776 SP52093 nsv909881 18 67287404 67425288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581431 S 6533 0 1 LOC100505776 IS35572 nsv131562 18 67294705 67294705 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150140 M 24 "" nsv507882 18 67311167 67317167 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623252 S 4 1 0 "" NA18994 nsv518500 18 67318152 67340810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695940 S 2026 0 1 LOC100505776 nsv130621 18 67319702 67319751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149199 M 24 "" nsv520578 18 67378570 67389435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697500 S 2026 0 1 LOC100505776 nsv909882 18 67385427 67432490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582810 S 6533 0 1 LOC100505776 IS36170 nsv833690 18 67422671 67604065 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454109 S 95 0 1 "" nsv909883 18 67449664 67492275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568977 S 6533 0 1 "" IS31373 nsv909884 18 67453041 67512084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588747 S 6533 1 0 "" IS38239 esv268539 18 67462962 67463091 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510784,essv2494697,essv2501314 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18519,NA19093 nsv9642 18 67471918 67690349 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23500 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv909885 18 67516912 67857043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590554 S 6533 0 1 "" IS38525 nsv458288 18 67533577 67555724 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535251 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891 nsv458289 18 67543840 67745379 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535252 S 1557 0 1 "" 1782681164_A nsv470435 18 67545932 67564048 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547161 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891 nsv909886 18 67552965 67606515 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561856 S 6533 1 0 "" MS25255 nsv516800 18 67579536 67590053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657717,nssv671001,nssv674775,nssv677448,nssv655447,nssv683824 M 2026 0 6 "" nsv518586 18 67631759 67642697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696033 S 2026 0 1 "" nsv517069 18 67638279 67642697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684617,nssv693801,nssv693876,nssv671641,nssv673536,nssv673163,nssv670139,nssv688702,nssv660123,nssv685370,nssv655063,nssv653727,nssv668491,nssv680014 M 2026 0 14 "" nsv518811 18 67638279 67645890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696264 S 2026 0 1 "" nsv525939 18 67638279 67649369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702145 S 2026 0 1 "" nsv469658 18 67677836 67827101 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649586 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv909887 18 67690248 67784448 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570144 S 6533 1 0 "" IS31812 dgv1050e1 18 67700021 68125877 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1391,essv2914,esv590 M 271 0 0 "" NA19007 dgv3464n71 18 67728273 67804296 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909890,nsv909889,nsv909891,nsv909888 M 6533 0 4 "" IS31137,IS37999,MS15199,MS16286 esv35041 18 67728273 68039117 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987379,essv6987378,essv6978356,essv6978357,essv6978358 M 771 0 1 "" NA19007 nsv9643 18 67738923 68035868 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24669,nssv28416 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19007,NA19221 esv268901 18 67751936 67752170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541035,essv2568103,essv2577293,essv2552097,essv2547346,essv2529113,essv2577749,essv2559582,essv2565523,essv2530674,essv2539974,essv2557457,essv2569455,essv2561651,essv2523777,essv2542910,essv2568943,essv2534224,essv2575772,essv2572872,essv2568514,essv2538165,essv2554599 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA11831,NA11995,NA12043,NA12489,NA12717,NA12749,NA12761,NA12776,NA12812,NA12873,NA18489,NA18499,NA18508,NA18523,NA18537,NA18550,NA18861,NA18959,NA19099,NA19143,NA19147 esv270274 18 67768306 67768391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515032 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv909892 18 67828785 67976290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546246 S 6533 0 1 "" MS17114 nsv909893 18 67828785 68109258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548825 S 6533 1 0 "" MS17878 nsv909894 18 67857043 67930116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564159 S 6533 0 1 "" IS30171 nsv909895 18 67864609 67914209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580151 S 6533 0 1 "" IS35229 nsv909896 18 67914209 67964490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501712 S 6533 0 1 "" SP50725 nsv522916 18 67922339 67933066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698577 S 2026 0 1 "" nsv909897 18 67931021 68072361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549004,nssv1548290 M 6533 0 2 "" MS17788,MS17974 nsv833691 18 67947531 68119688 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454110 S 95 1 0 "" esv1921268 18 67990034 67990472 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604268 S 1 0 1 "" NA18507 esv33202 18 68015384 68085984 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98575 S 51 0 1 "" 22085 nsv828304 18 68042362 68043344 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425406 S 31 1 0 "" AK2 nsv131098 18 68047740 68048055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149676 M 24 "" esv5735 18 68047759 68048058 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28176 S 1 0 1 "" SJK esv26172 18 68056754 68059014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20597 S 451 0 1 "" NA12156 esv29486 18 68151595 68155710 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10229,esv18669 M 451 0 3 "" NA12287,NA19129,NA19190 nsv833693 18 68218849 68404990 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454111,nssv1454112 M 95 2 0 CBLN2 nsv520557 18 68288505 68297364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697484 S 2026 0 1 "" nsv433173 18 68337587 68341352 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463054 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv34051 18 68456086 68824705 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 NETO1 esv991123 18 68474297 68474369 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579124 S 3 0 1 "" HuRef esv1226648 18 68474407 68474480 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841791 S 2 0 1 "" HuRef nsv132196 18 68479688 68484483 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150774 M 24 "" nsv909898 18 68490525 68538432 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527912 S 6533 1 0 "" SP81068 esv992161 18 68504200 68504401 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577045 S 3 0 1 "" HuRef esv28477 18 68515166 68516352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16478 S 451 0 3 "" NA18523,NA18861,NA19114 esv1677169 18 68518865 68518865 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792048 S 2 1 0 "" HuRef nsv526088 18 68534099 68534238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702334 S 2026 0 1 "" nsv828305 18 68568200 68568841 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422260 S 31 0 1 NETO1 NA18997 dgv1051e1 18 68579533 68585381 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1376,essv14245 M 271 0 0 NETO1 NA19100 nsv9644 18 68583275 68586066 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21919 S 31 0 1 Samples from several populations that are part of the HapMap project. NETO1 NA18572 esv27222 18 68590188 68590753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20671 S 451 0 1 NETO1 NA12878 esv988415 18 68590188 68590753 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586224 S 3 0 1 NETO1 HuRef nsv2351 18 68610050 68645847 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7412 S 9 0 1 NETO1 NA12156 nsv526339 18 68627019 68627217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702631 S 2026 0 1 NETO1 nsv526519 18 68640760 68641554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702830 S 2026 0 1 NETO1 nsv458290 18 68644727 68663818 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535253 S 1557 0 1 NETO1 1780854384_A nsv828306 18 68687248 68687989 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432547 S 31 0 1 "" AK20 nsv523159 18 68715424 68717331 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698868 S 2026 1 0 "" esv24549 18 68761461 68764163 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19291,esv16398 M 451 4 0 "" NA11894,NA18523,NA18916,NA19147 esv1007242 18 68780245 68794841 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564378 S 3 1 0 "" HuRef nsv2352 18 68780594 68802873 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6764,nssv5709,nssv1424,nssv10166 M 9 4 0 "" NA12156,NA18956,NA19129,NA19240 nsv515817 18 68783679 68792198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675962,nssv683493,nssv664896,nssv682174,nssv664872,nssv684865,nssv674457,nssv668102 M 2026 0 8 "" nsv473377 18 68790622 68790708 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557994 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19129 nsv499623 18 68790622 68790708 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586313 S 9 1 0 "" nsv828307 18 68795703 68797187 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434788 S 31 1 0 "" NA18570 nsv833694 18 68798182 68946307 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454113 S 95 1 0 "" nsv909899 18 68842782 68908094 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521697 S 6533 1 0 "" SP52545 nsv520259 18 68871791 68876810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697312 S 2026 0 1 "" esv27927 18 68872295 68877800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16369 S 451 0 2 "" NA06985,NA11894 nsv458291 18 68896604 68926719 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535254 S 1557 0 1 "" 1782681080_A nsv909900 18 68898378 68962372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546247 S 6533 0 1 "" MS17114 nsv909901 18 68910075 68948906 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519229 S 6533 1 0 "" SP80986 esv2524344 18 68916914 68920804 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267522 S 1 0 1 "" NA18507 esv2087882 18 68917453 68920445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689099 S 1 0 1 "" NA18507 nsv131356 18 68917641 68920240 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149934 M 24 "" esv2422238 18 68919651 69057023 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161371 S 181 0 1 LOC400655 ND00709 nsv458292 18 68931729 69047309 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535255 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC400655 HGDP00218 nsv131618 18 68990158 68990158 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150196 M 24 LOC400655 esv2632514 18 69024733 69026440 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284316 S 1 0 1 LOC400655 NA18507 esv1511391 18 69025342 69025455 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752878 S 2 0 1 LOC400655 HuRef nsv458293 18 69065051 69134108 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535256 S 1557 0 1 LOC400655 NINDS_89 esv1303764 18 69067825 69067880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832736 S 2 0 1 LOC400655 HuRef nsv131376 18 69068547 69068547 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149954 M 24 LOC400655 nsv131514 18 69092571 69098685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150092 M 24 "" esv275530 18 69098077 69099251 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585430,essv2585754 M 1250 1 1 "" nsv438299 18 69102094 69105459 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470742,nssv470739 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12801,NA12812 nsv909902 18 69102192 69246806 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585155 S 6533 1 0 LOC100505817 IS37321 dgv3465n71 18 69114690 69210486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909904,nsv909903 M 6533 0 6 LOC100505817 SP51188,SP52694,SP54399,SP54685,SP56231,SP81260 nsv524088 18 69114690 69223208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699960 S 2026 0 1 LOC100505817 esv259736 18 69115234 69115718 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399568,essv2400400,essv2400386 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18570,NA18592,NA18960 esv4961 18 69129795 69130217 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27402 S 1 0 1 Single Asian sample YH "" YH esv7275 18 69129817 69130162 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29716 S 1 0 1 "" SJK nsv131189 18 69129843 69130157 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149767 M 24 "" nsv518789 18 69216761 69217997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696242 S 2026 0 1 "" nsv519721 18 69266063 69267213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657916,nssv672135 M 2026 0 2 "" nsv521197 18 69282169 69306485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691060,nssv684475 M 2026 0 2 "" nsv828309 18 69300043 69301024 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426253 S 31 1 0 "" AK4 nsv909905 18 69382549 69423998 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548826 S 6533 1 0 "" MS17878 nsv528650 18 69397065 69404448 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705283 S 2026 1 0 "" nsv2353 18 69420105 69464776 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7413 S 9 0 1 "" NA12156 esv2584727 18 69423731 69425201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216471 S 1 0 1 "" NA18507 esv2299667 18 69424190 69424898 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502922 S 1 0 1 "" NA18507 esv4592 18 69424328 69424793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27033 S 1 0 1 Single Asian sample YH "" YH esv1580104 18 69424394 69424715 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362413 S 2 0 1 "" HuRef esv7572 18 69424398 69424697 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30013 S 1 0 1 "" SJK nsv909906 18 69445149 69517834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548827 S 6533 1 0 "" MS17878 nsv510466 18 69449099 69455099 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622283,nssv618442,nssv621459 M 4 0 3 "" CHM,NA10860,NA15510 esv269694 18 69475599 69475888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494290,essv2496548,essv2496302,essv2493615,essv2509048,essv2506154,essv2500404,essv2512978,essv2512695,essv2508675,essv2501630,essv2500925,essv2505947,essv2507079,essv2513401,essv2495642,essv2503478,essv2495988,essv2512827,essv2501528,essv2504601,essv2506617 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18511,NA18517,NA18522,NA18523,NA18537,NA18547,NA18577,NA18592,NA18608,NA18856,NA18861,NA18870,NA18907,NA18916,NA18947,NA18961,NA18980,NA19093,NA19099,NA19108 nsv522751 18 69593055 69597863 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698387 S 2026 0 1 "" esv5027 18 69595143 69595613 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27468 S 1 0 1 Single Asian sample YH "" YH esv1010643 18 69595188 69595522 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579742 S 3 0 1 "" HuRef esv7843 18 69595200 69595519 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30284 S 1 0 1 "" SJK esv1416559 18 69595204 69595539 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235317 S 2 0 1 "" HuRef esv2549622 18 69611799 69613202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343482 S 1 0 1 "" NA18507 nsv828310 18 69621713 69634778 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431727 S 31 0 1 "" AK18 nsv909907 18 69622071 69637596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525126,nssv1524661 M 6533 0 2 "" SP55150,SP55513 nsv909908 18 69637596 69741616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586355 S 6533 0 1 "" IS37752 nsv507883 18 69640887 69646887 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620634 S 4 1 0 "" NA15510 nsv909909 18 69696208 69823403 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548828 S 6533 1 0 "" MS17878 esv992173 18 69718479 69719116 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586842 S 3 1 0 "" HuRef nsv909910 18 69880279 69999449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600278 S 6533 0 1 C18orf55,FBXO15 IS41866 nsv2355 18 69887559 69932279 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7414 S 9 0 1 FBXO15 NA12156 esv27743 18 69965355 69969170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10690 S 451 0 1 C18orf55,FBXO15 NA18907 nsv909911 18 69967258 70092638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563797 S 6533 1 0 C18orf55,CYB5A IS30076 esv27272 18 70022694 70023764 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21303 S 451 5 0 "" NA15510,NA18861,NA19147,NA19190,NA19257 nsv820861 18 70022694 70023764 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420003 S 1 0 1 "" NA10851 esv1009977 18 70032038 70034486 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563544 S 3 1 0 "" HuRef nsv519101 18 70066567 70073769 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696575 S 2026 0 1 CYB5A nsv2356 18 70102886 70137952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1425 S 9 1 0 C18orf63,CYB5A NA19240 nsv909912 18 70111116 70184763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576122 S 6533 0 1 C18orf63 IS33878 dgv3466n71 18 70174447 70193967 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909913,nsv909914 M 6533 2 0 C18orf63 MS10840,MS25377 nsv819427 18 70175558 70175792 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419392 S 2 0 1 C18orf63 AK1 nsv909915 18 70176783 70221308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548829 S 6533 1 0 C18orf63 MS17878 nsv524678 18 70184763 70184882 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700649 S 2026 1 0 "" nsv909916 18 70190655 70326132 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563798 S 6533 1 0 CNDP2,FAM69C IS30076 esv29847 18 70227869 70228865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17122 S 451 0 1 "" NA19108 nsv527671 18 70233924 70294366 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704146 S 2026 1 0 FAM69C esv1000434 18 70240950 70283616 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564404 S 3 0 1 FAM69C HuRef esv997716 18 70243257 70243321 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580747 S 3 0 1 "" HuRef esv992377 18 70243315 70243379 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579664 S 3 0 1 "" HuRef esv1268291 18 70243317 70243382 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628034 S 2 0 1 "" HuRef nsv458298 18 70264181 70285832 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535258 S 1557 1 0 FAM69C 1780862575_A dgv3467n71 18 70294366 70349958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909917,nsv909918 M 6533 0 2 CNDP2 MS10311,MS17208 esv2432643 18 70302914 70304638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381320 S 1 0 1 "" NA18507 esv2243913 18 70303221 70303952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599881 S 1 0 1 "" NA18507 esv2816 18 70303329 70303849 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25257 S 1 0 1 Single Asian sample YH "" YH esv1005097 18 70303416 70303755 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582997 S 3 0 1 "" HuRef esv1657344 18 70303422 70303762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793017 S 2 0 1 "" HuRef esv6933 18 70303424 70303741 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29374 S 1 0 1 "" SJK esv1617659 18 70332786 70332786 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991159 S 2 1 0 CNDP2 HuRef nsv909919 18 70333945 70667412 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563799 S 6533 1 0 CNDP1,CNDP2,LOC400657,ZNF407 IS30076 nsv909920 18 70353243 70392209 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548830 S 6533 1 0 CNDP1 MS17878 nsv909921 18 70370317 70538070 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554095 S 6533 1 0 CNDP1,LOC400657,ZNF407 MS20612 nsv2357 18 70474523 70508506 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4333 S 9 1 0 ZNF407 NA12878 nsv2358 18 70522053 70555629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7415 S 9 1 0 ZNF407 NA12156 esv2034794 18 70614127 70614545 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828346 S 1 0 1 ZNF407 NA18507 esv999235 18 70614308 70614479 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578571 S 3 0 1 ZNF407 HuRef esv1570874 18 70614330 70614502 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177741 S 2 0 1 ZNF407 HuRef nsv523996 18 70647870 70654268 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699856 S 2026 1 0 ZNF407 nsv516801 18 70742196 70747030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671002,nssv688294 M 2026 0 2 ZNF407 nsv2359 18 70753969 70798864 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2202 S 9 0 1 ZNF407 NA18555 esv2521516 18 70756111 70758115 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251522 S 1 0 1 ZNF407 NA18507 esv2612943 18 70757083 70757218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313856 S 1 0 1 ZNF407 NA18507 esv2561068 18 70757597 70757728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238448 S 1 0 1 ZNF407 NA18507 nsv518563 18 70830929 70834198 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696007 S 2026 1 0 ZNF407 esv2053114 18 70853038 70853528 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755455 S 1 0 1 ZNF407 NA18507 esv4223 18 70853089 70853500 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26664 S 1 0 1 Single Asian sample YH ZNF407 YH nsv2360 18 70901581 70946896 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5711 S 9 0 1 ZNF407 NA19129 esv4920 18 70908238 70908734 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27361 S 1 0 1 Single Asian sample YH "" YH esv2400039 18 70908258 70908653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604883 S 1 0 1 "" NA18507 esv1002598 18 70908380 70908465 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571497 S 3 0 1 "" HuRef esv1102371 18 70908476 70908562 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821796 S 2 0 1 "" HuRef nsv131351 18 70908553 70908638 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149929 M 24 "" esv999506 18 70908972 70909021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570443 S 3 0 1 "" HuRef esv1653458 18 70908983 70909033 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049637 S 2 0 1 "" HuRef nsv130683 18 70909002 70909051 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149261 M 24 "" nsv833695 18 70923918 71118616 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454114 S 95 1 0 TSHZ1,ZADH2 esv1521023 18 70945872 70945872 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021147 S 2 1 0 "" HuRef esv1007046 18 70946153 70946228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571069 S 3 0 1 "" HuRef esv1370397 18 70946186 70946262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750763 S 2 0 1 "" HuRef nsv909922 18 70958244 70981947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565220 S 6533 0 1 "" IS30369 nsv909923 18 70958244 70994152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530923 S 6533 0 1 "" MS10311 nsv518899 18 70967007 70970501 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694287 S 2026 1 0 "" nsv524451 18 70967007 70977103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700384 S 2026 0 1 "" nsv131791 18 71020567 71020567 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150369 M 24 "" nsv909924 18 71067174 71116477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548831 S 6533 1 0 TSHZ1 MS17878 nsv132104 18 71072490 71078734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150682 M 24 TSHZ1 nsv132006 18 71090614 71090705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150584 M 24 TSHZ1 nsv458299 18 71103295 71119261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535259 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSHZ1 HGDP00894 nsv2361 18 71130955 71176149 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7416 S 9 0 1 "" NA12156 nsv519850 18 71132478 71134403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697085 S 2026 0 1 "" nsv507884 18 71219416 71225416 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623253,nssv619210,nssv620635 M 4 3 0 "" NA10860,NA15510,NA18994 nsv909925 18 71278968 71386585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537640 S 6533 1 0 "" MS13286 nsv828311 18 71309085 71309659 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426254 S 31 1 0 "" AK4 dgv560n67 18 71400587 71401224 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828312,nsv828315,nsv828314,nsv828313 M 31 25 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18999 nsv820349 18 71400587 71401677 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420005 S 1 0 1 "" NA10851 nsv820179 18 71400617 71401200 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419011 S 2 1 0 "" AK1 esv24350 18 71400669 71401677 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10343,esv11532 M 451 4 0 "" NA12749,NA18508,NA18907,NA18909 nsv509699 18 71410245 71425657 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618129 S 4 1 0 "" CHM esv273159 18 71439918 71440115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580137,essv2580470,essv2579898,essv2580740,essv2579135,essv2579756 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268308 18 71450628 71450721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542585,essv2576347,essv2547931 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11919,NA12814 nsv130731 18 71464636 71464821 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149309 M 24 "" nsv519728 18 71480016 71481322 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697015 S 2026 1 0 "" nsv458300 18 71503505 71586126 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535260 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00199 nsv131508 18 71553280 71553347 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150086 M 24 "" esv2345031 18 71591879 71592325 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566126 S 1 0 1 "" NA18507 esv25826 18 71697469 71697923 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10736 S 451 0 1 "" NA18523 esv2470877 18 71698756 71700137 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209224 S 1 0 1 "" NA18507 esv2258583 18 71698796 71699537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646106 S 1 0 1 "" NA18507 esv4460 18 71698955 71699372 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26901 S 1 0 1 Single Asian sample YH "" YH esv2532487 18 71698998 71699322 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231258 S 1 0 1 "" NA18507 esv6784 18 71699005 71699316 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29225 S 1 0 1 "" SJK esv993816 18 71699006 71699330 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585455 S 3 0 1 "" HuRef esv1456445 18 71699009 71699334 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940628 S 2 0 1 "" HuRef nsv131535 18 71699010 71699334 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150113 M 24 "" esv271667 18 71791762 71792092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558173,essv2526045,essv2536611,essv2531869,essv2550439,essv2544313,essv2551999,essv2547303,essv2558663,essv2564769,essv2553655,essv2530665,essv2534688,essv2533751,essv2538501,essv2538027,essv2533068,essv2563286 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA10847,NA10851,NA11918,NA11920,NA12006,NA12234,NA12414,NA12489,NA12717,NA12750,NA12751,NA12763,NA12873,NA18561,NA18944,NA19108 nsv833696 18 71838977 71930686 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454116,nssv1454115,nssv1454118,nssv1454117,nssv1454120,nssv1454119,nssv1454122,nssv1454121,nssv1454123 M 95 9 0 "" nsv507885 18 71848199 71854199 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617941,nssv623254,nssv620636,nssv619211 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv525632 18 71869832 71873772 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701785 S 2026 1 0 "" nsv529011 18 71869832 71876148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705721 S 2026 0 1 "" nsv527178 18 71869875 71876148 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703574 S 2026 1 0 "" nsv2362 18 71900793 71907711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10167 S 9 1 0 "" NA18956 nsv909926 18 71920248 71978741 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562649 S 6533 0 1 LOC339298 MS25690 esv275486 18 71931761 71935725 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585541 S 1250 0 1 "" nsv458301 18 71960066 71984919 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535261 S 1557 0 1 LOC339298 1780854288_A esv7196 18 72030657 72031030 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29637 S 1 0 1 "" SJK esv1624156 18 72081257 72081257 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306360 S 2 1 0 "" HuRef esv273838 18 72082894 72083224 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582232,essv2582471,essv2582824,essv2584868,essv2583281 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv271210 18 72082895 72083225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565603,essv2575934,essv2540864,essv2571749,essv2521109,essv2525917,essv2542218,essv2536575,essv2522790,essv2544150,essv2570848,essv2568421,essv2545267,essv2523423,essv2531833,essv2577353,essv2548344,essv2521850,essv2550685,essv2525343,essv2550348,essv2535473,essv2554110,essv2544437,essv2552233,essv2520514,essv2547333,essv2529073,essv2558546,essv2564409,essv2577716,essv2553623,essv2559647,essv2565345,essv2576219,essv2520141,essv2564063,essv2555085,essv2530730,essv2561899,essv2537395,essv2528412,essv2546855,essv2557505,essv2557018,essv2552610,essv2578573,essv2550078,essv2558709,essv2539162,essv2569739,essv2527064,essv2561380,essv2544740,essv2523519,essv2553083,essv2541257,essv2538411,essv2542992,essv2540552,essv2524353,essv2564908,essv2534954,essv2539693,essv2549243,essv2519919,essv2521994,essv2566273,essv2531011,essv2532542,essv2567821,essv2567401,essv2541605,essv2569972,essv2563899,essv2535524,essv2572399,essv2559006,essv2566855,essv2542103,essv2543640,essv2556187,essv2562544,essv2578385,essv2573028,essv2533493,essv2555489,essv2566377,essv2527692,essv2557714,essv2555963,essv2534201,essv2522476,essv2573409,essv2576957,essv2572042,essv2526870,essv2575373,essv2575110,essv2538516,essv2526691,essv2560594,essv2524224,essv2574603,essv2572884,essv2568487,essv2549905,essv2545865,essv2574363,essv2536315,essv2537991,essv2549030,essv2532966,essv2554723,essv2547771,essv2525168,essv2563144,essv2558175 M 157 118 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18510,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18909,NA18940,NA18942,NA18944,NA18945,NA18948,NA18952,NA18953,NA18956,NA18959,NA18960,NA18964,NA18970,NA18973,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19225,NA19239,NA19240 esv1743784 18 72082927 72082927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044515 S 2 1 0 "" HuRef dgv3468n71 18 72194339 72226947 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909928,nsv909927 M 6533 0 2 ZNF516 IS37646,MS18276 esv2026073 18 72198169 72198624 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706219 S 1 0 1 "" NA18507 esv1004583 18 72198299 72198374 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568638 S 3 0 1 "" HuRef esv1625184 18 72198342 72198418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291327 S 2 0 1 "" HuRef nsv523904 18 72198776 72198871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699747 S 2026 0 1 ZNF516 nsv909929 18 72208237 72239551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546978 S 6533 0 1 ZNF516 MS17208 dgv3469n71 18 72215071 72343402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909930,nsv909931 M 6533 0 2 ZNF516 MS10311,MS16153 nsv828316 18 72220623 72369429 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430518 S 31 1 0 ZNF516 NA18968 esv2508066 18 72233277 72236147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378131 S 1 0 1 ZNF516 NA18507 esv2282909 18 72233437 72233799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4767605 S 1 0 1 ZNF516 NA18507 nsv512546 18 72233565 72235834 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625151 S 1 0 1 ZNF516 1 esv28838 18 72233885 72235750 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17449 S 451 27 0 ZNF516 NA06985,NA11931,NA11995,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv2629775 18 72242387 72242986 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362668 S 1 1 0 ZNF516 NA18507 esv1525447 18 72242788 72242788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999047 S 2 1 0 ZNF516 HuRef nsv131595 18 72264494 72264558 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150173 M 24 ZNF516 esv988971 18 72265185 72265246 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573848 S 3 0 1 ZNF516 HuRef nsv458302 18 72298989 72325606 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535262 S 1557 0 1 ZNF516 1780862586_A nsv131684 18 72308029 72308190 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150262 M 24 ZNF516 esv1000604 18 72308086 72308139 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573338 S 3 0 1 ZNF516 HuRef esv1570708 18 72308184 72308238 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188576 S 2 0 1 ZNF516 HuRef nsv131705 18 72308189 72308350 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150283 M 24 ZNF516 nsv458303 18 72308578 72325606 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535263 S 1557 0 1 ZNF516 1780862444_A dgv3470n71 18 72319121 72377225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909932,nsv909936 M 6533 0 2 LOC284276,ZNF516 MS16153,MS17208 dgv3471n71 18 72325011 72343127 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909934,nsv909935,nsv909937,nsv909933 M 6533 0 5 ZNF516 SP54593,SP54956,SP54988,SP55019,SP55021 nsv458305 18 72325606 72362054 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535264 S 1557 0 1 ZNF516 NINDS_273 esv1303461 18 72349436 72349436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292748 S 2 1 0 "" HuRef nsv524820 18 72356083 72362054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700815 S 2026 0 1 "" nsv833697 18 72365502 72533452 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454124 S 95 0 1 LOC284276 esv275247 18 72402818 72407044 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585741,essv2586059 M 1250 1 1 "" nsv909938 18 72402818 72457017 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527360 S 6533 1 0 "" SP58382 nsv909939 18 72410800 72442367 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517530 S 6533 1 0 "" SP57306 esv2640557 18 72425657 72427413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217123 S 1 0 1 "" NA18507 esv4019 18 72426239 72426933 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26460 S 1 0 1 Single Asian sample YH "" YH esv7228 18 72426278 72426881 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29669 S 1 0 1 "" SJK nsv131694 18 72426283 72426854 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150272 M 24 "" esv1326375 18 72426294 72426863 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751894 S 2 0 1 "" HuRef esv2537774 18 72426761 72426863 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287468 S 1 0 1 "" NA18507 nsv510467 18 72446708 72452708 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618443 S 4 0 1 "" CHM esv23122 18 72452465 72453138 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14585 S 451 0 1 "" NA19108 nsv131503 18 72452631 72452631 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150081 M 24 "" esv1034728 18 72452905 72452905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308317 S 2 1 0 "" HuRef nsv909940 18 72464342 72646301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595601,nssv1587429 M 6533 2 0 LOC100131655 IS38050,IS40280 esv2435504 18 72475648 72477478 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283851 S 1 0 1 "" NA18507 esv1940065 18 72476032 72477158 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624754 S 1 0 1 "" NA18507 esv990796 18 72476111 72476615 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587186 S 3 0 1 "" HuRef nsv821479 18 72476111 72476615 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420006 S 1 0 1 "" NA10851 nsv828317 18 72476111 72476615 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434073,nssv1423026,nssv1430530,nssv1428731,nssv1422262,nssv1430241,nssv1432549,nssv1423164,nssv1431729,nssv1433337,nssv1440731,nssv1437846,nssv1425409,nssv1423850,nssv1424654,nssv1429489 M 31 14 2 "" AK10,AK12,AK14,AK18,AK2,AK20,NA18526,NA18547,NA18552,NA18564,NA18582,NA18949,NA18968,NA18972,NA18997,NA18999 esv1358886 18 72494363 72494669 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077093 S 2 0 1 "" HuRef nsv909941 18 72531390 72604358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512562 S 6533 1 0 "" SP55553 nsv909942 18 72533033 72604358 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546980,nssv1590750,nssv1578413,nssv1521711,nssv1596647 M 6533 4 1 "" IS34770,IS38577,IS40582,MS17208,SP52552 nsv909943 18 72534292 72604358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499134,nssv1503338 M 6533 0 2 "" SP50029,SP52039 dgv194n21 18 72537956 72600805 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519497,nsv523132 M 2026 2 0 "" nsv458308 18 72537956 72600805 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535265 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01319 nsv526677 18 72537956 72600805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703009 S 2026 0 1 "" nsv470436 18 72540583 72600805 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547162 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01319 esv2557091 18 72542441 72543381 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370256 S 1 1 0 "" NA18507 esv267597 18 72548591 72548873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507748,essv2509797,essv2506572,essv2513104 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12751,NA18508,NA19108 dgv195n21 18 72565690 72600805 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519619,nsv518917 M 2026 0 2 "" esv8038 18 72574761 72575143 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30479 S 1 0 0 "" SJK nsv909944 18 72582406 72633717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588261 S 6533 0 1 "" IS38176 esv2520261 18 72587382 72590105 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271673 S 1 0 1 "" NA18507 esv2206585 18 72587989 72589642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732385 S 1 0 1 "" NA18507 nsv909945 18 72595148 72626197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592398 S 6533 0 1 "" IS39233 esv1436915 18 72617650 72617650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769405 S 2 1 0 "" HuRef esv25595 18 72663091 72664132 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18392 S 451 0 1 LOC100131655 NA12489 esv268598 18 72691999 72692084 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514567,essv2516759,essv2517285 M 157 3 0 Samples from several populations that are part of the HapMap project. ZNF236 NA11840,NA11881,NA18970 nsv909946 18 72723160 72837047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548832 S 6533 1 0 MBP,ZNF236 MS17878 esv2547601 18 72767166 72768018 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235996 S 1 1 0 ZNF236 NA18507 nsv2363 18 72785291 72793785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5712 S 9 1 0 ZNF236 NA19129 esv2625456 18 72807860 72808454 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188214 S 1 1 0 ZNF236 NA18507 esv2588513 18 72808188 72808273 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188080 S 1 0 1 ZNF236 NA18507 nsv526525 18 72833263 72834215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702837 S 2026 0 1 MBP nsv909947 18 72835447 72868010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543761 S 6533 0 1 MBP MS16153 esv1337607 18 72869653 72869779 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689741 S 2 0 1 MBP HuRef esv1000858 18 72871173 72874774 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565331 S 3 0 1 MBP HuRef esv2578357 18 72876858 72878429 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172995 S 1 0 1 MBP NA18507 esv269268 18 72885839 72886184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2531697,essv2576550,essv2564073,essv2562092,essv2539988,essv2557562,essv2569304,essv2550107,essv2536986,essv2538967,essv2541405,essv2542677,essv2561024,essv2519670,essv2522032,essv2566261,essv2541585,essv2569978,essv2535738,essv2572394,essv2559342,essv2556278,essv2578473,essv2533595,essv2567107,essv2534247,essv2531618,essv2543215,essv2576956,essv2572000,essv2575118,essv2574861,essv2545060,essv2525123,essv2558007 M 157 35 0 Samples from several populations that are part of the HapMap project. MBP NA07357,NA10851,NA12006,NA12154,NA12828,NA12874,NA18489,NA18499,NA18508,NA18511,NA18517,NA18519,NA18545,NA18550,NA18562,NA18566,NA18571,NA18572,NA18592,NA18593,NA18608,NA18609,NA18638,NA18871,NA18940,NA18944,NA18947,NA18959,NA18961,NA18965,NA18970,NA18973,NA19102,NA19138,NA19172 esv996768 18 72886308 72886308 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584579 S 3 1 0 MBP HuRef esv1353770 18 72886331 72886331 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034708 S 2 1 0 MBP HuRef nsv130931 18 72886473 72886473 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149509 M 24 MBP esv2425384 18 72898483 72900113 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384724 S 1 0 1 MBP NA18507 esv2008649 18 72898586 72899255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725914 S 1 0 1 MBP NA18507 esv3092 18 72898618 72899210 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25533 S 1 0 1 Single Asian sample YH MBP YH esv9710 18 72898757 72899074 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32151 S 1 0 1 MBP SJK esv2535215 18 72898771 72899071 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310812 S 1 0 1 MBP NA18507 esv999528 18 72923639 72923639 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584334 S 3 1 0 MBP HuRef esv1080906 18 72923702 72923702 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810737 S 2 1 0 MBP HuRef esv1249335 18 72958904 72958953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936655 S 2 0 1 MBP HuRef esv22996 18 72974899 72975359 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14347 S 451 1 0 "" NA12239 esv999392 18 72982350 72982443 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572150 S 3 0 1 "" HuRef esv1721736 18 72982357 72982451 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098570 S 2 0 1 "" HuRef esv2751779 18 73012400 73487286 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981991,essv6981993,essv6981992,essv6981990,essv6981989 M 771 1 0 GALR1 BEC_510 nsv131118 18 73039868 73039868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149696 M 24 "" dgv1052e1 18 73047414 73306926 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18658,essv7569,essv22155,essv23653,essv24784,esv175,essv13899,essv18106,essv7715,essv18322,essv5409,essv7856,essv17607,essv2286 M 271 0 0 GALR1 NA10846,NA10857,NA10860,NA10863,NA11993,NA12234,NA12753,NA18545,NA18558,NA18563,NA18633,NA18854,NA18966 nsv518302 18 73055415 73058030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695733 S 2026 0 1 "" nsv2364 18 73076907 73109120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10168 S 9 1 0 GALR1 NA18956 dgv196n21 18 73083303 73137020 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518395,nsv523393 M 2026 2 0 GALR1 esv2169580 18 73093716 73094081 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858894 S 1 0 1 GALR1 NA18507 nsv130653 18 73093924 73093998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149231 M 24 GALR1 esv7653 18 73099866 73100452 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30094 S 1 0 1 GALR1 SJK esv33903 18 73116034 73134527 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101704 S 51 0 1 "" 21909 esv25851 18 73125354 73139924 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16472 S 451 1 0 "" NA15510 nsv131760 18 73135009 73135199 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150338 M 24 "" nsv833698 18 73172599 73312412 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454125 S 95 1 0 "" esv26228 18 73213707 73214587 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18123 S 451 1 7 "" NA11993,NA11995,NA12414,NA12489,NA12749,NA18523,NA18907,NA19190 esv2209221 18 73213737 73214143 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956000 S 1 0 1 "" NA18507 esv1365192 18 73213906 73213956 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719503 S 2 0 1 "" HuRef esv1051121 18 73214017 73214067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020420 S 2 0 1 "" HuRef esv2298518 18 73214193 73214721 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790002 S 1 0 1 "" NA18507 esv1343642 18 73214217 73214217 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730039 S 2 1 0 "" HuRef esv4610 18 73214305 73214654 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27051 S 1 0 1 Single Asian sample YH "" YH esv992840 18 73214327 73214526 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576255 S 3 0 1 "" HuRef esv1032341 18 73214335 73214535 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785728 S 2 0 1 "" HuRef nsv909948 18 73215731 73391251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594755 S 6533 1 0 "" IS40012 nsv909949 18 73229270 73278738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548833 S 6533 1 0 "" MS17878 esv26703 18 73233763 73234343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19027 S 451 0 1 "" NA19147 nsv131247 18 73288111 73297822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149825 M 24 "" esv989528 18 73331420 73331471 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579861 S 3 0 1 "" HuRef esv1049927 18 73331518 73331570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047412 S 2 0 1 "" HuRef dgv3472n71 18 73336488 73391251 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv909950,nsv909951 M 6533 2 0 "" MS14495,MS25839 nsv833699 18 73339212 73379768 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454133,nssv1454131,nssv1454132,nssv1454135,nssv1454136,nssv1454134,nssv1454130,nssv1454127,nssv1454129,nssv1454128,nssv1454126 M 95 7 4 "" nsv131431 18 73348464 73348464 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150009 M 24 "" esv2483406 18 73367758 73367884 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161780 S 1 0 1 "" NA18507 esv7799 18 73390122 73390526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30240 S 1 0 1 "" SJK esv1420551 18 73390519 73390519 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930771 S 2 1 0 "" HuRef nsv511604 18 73391251 73397481 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626234 S 1 0 1 "" 1 nsv512547 18 73395894 73397432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625152 S 1 0 1 "" 1 esv4915 18 73395957 73397243 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27356 S 1 0 1 Single Asian sample YH "" YH esv5674 18 73395960 73397155 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28115 S 1 0 1 "" SJK dgv561n67 18 73395974 73397161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828320,nsv828318 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv1006699 18 73395974 73397161 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586949 S 3 1 0 "" HuRef nsv820706 18 73395974 73397161 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420007 S 1 0 1 "" NA10851 esv21914 18 73395994 73397090 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15097 S 451 29 0 "" NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12044,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv909952 18 73424966 73496612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548834 S 6533 1 0 "" MS17878 esv2353445 18 73454868 73455224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699545 S 1 0 1 "" NA18507 nsv517996 18 73460585 73547284 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695408 S 2026 1 0 "" nsv909953 18 73506535 73770479 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594756 S 6533 1 0 "" IS40012 nsv512548 18 73510531 73512198 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625153 S 1 0 1 "" 1 esv22258 18 73510663 73512313 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11193 S 451 0 8 "" NA06985,NA07045,NA11993,NA11995,NA12006,NA12239,NA12287,NA12776 nsv821544 18 73510663 73512313 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420008 S 1 0 1 "" NA10851 esv1432591 18 73510907 73510907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950738 S 2 1 0 "" HuRef esv1135484 18 73510923 73510923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213570 S 2 1 0 "" HuRef nsv131731 18 73511094 73511144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150309 M 24 "" nsv516261 18 73541346 73545542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679080,nssv667149 M 2026 0 2 "" esv2092434 18 73553554 73553961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611642 S 1 0 1 "" NA18507 nsv2366 18 73641573 73670484 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7418 S 9 0 1 "" NA12156 esv21457 18 73671572 73672363 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13102 S 451 1 0 "" NA19129 esv992657 18 73672015 73672015 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582934 S 3 1 0 "" HuRef nsv909954 18 73761156 73905534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539743 S 6533 0 1 "" MS14485 esv2557885 18 73767265 73768810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240969 S 1 0 1 "" NA18507 esv1107396 18 73767771 73767827 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360564 S 2 0 1 "" HuRef nsv131401 18 73767982 73767982 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149979 M 24 "" esv5111 18 73798394 73798922 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27552 S 1 0 1 Single Asian sample YH "" YH esv5677 18 73798515 73798810 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28118 S 1 0 1 "" SJK esv1029904 18 73799122 73799122 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749243 S 2 1 0 "" HuRef esv21864 18 73810129 73810902 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13531 S 451 2 0 "" NA12287,NA19257 esv2141477 18 73810547 73811016 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533103 S 1 0 1 "" NA18507 esv3162 18 73810618 73811024 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25603 S 1 0 1 Single Asian sample YH "" YH nsv428358 18 73930742 74629152 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453596,nssv453597,nssv453600,nssv453601,nssv453599,nssv453595 M 62 5 1 "" HGDP00460,HGDP00462,HGDP00476,HGDP01086,NA18498,NA19113 esv27866 18 73934088 73935266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10454 S 451 0 1 "" NA19099 esv270115 18 73947441 73947774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571824,essv2570972,essv2568357,essv2545382,essv2531873,essv2548461,essv2520494,essv2553561,essv2564234,essv2555001,essv2530718,essv2561938,essv2537332,essv2528487,essv2546860,essv2520912,essv2551730,essv2569457,essv2550097,essv2538949,essv2566961,essv2569093,essv2527763,essv2575536,essv2538789,essv2574787,essv2530267,essv2538111,essv2554806,essv2524763 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07357,NA11840,NA11993,NA11995,NA12003,NA12006,NA12045,NA12716,NA12763,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18504,NA18508,NA18511,NA18519,NA18853,NA18861,NA18907,NA19099,NA19108,NA19138,NA19141 esv274673 18 73947444 73947764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582067,essv2582706,essv2582866 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2532985 18 73947910 73948937 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281212 S 1 1 0 "" NA18507 esv989245 18 73948398 73948398 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573431 S 3 1 0 "" HuRef nsv527971 18 73953062 73953169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704484 S 2026 0 1 "" nsv519693 18 73953062 73958207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694342 S 2026 0 1 "" nsv522352 18 73970670 73971993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695131 S 2026 0 1 "" nsv909955 18 73975720 74048791 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556901 S 6533 1 0 "" MS22262 esv1010656 18 73984611 73984611 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567611 S 3 1 0 "" HuRef esv1736174 18 73991989 73991989 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112004 S 2 1 0 "" HuRef esv2458914 18 74019546 74020645 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268305 S 1 1 0 "" NA18507 nsv828321 18 74027877 74028331 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432551 S 31 1 0 "" AK20 nsv909956 18 74089829 74149564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537154 S 6533 0 1 "" MS13095 nsv509700 18 74094998 74102578 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619732 S 4 1 0 "" NA10860 esv2640693 18 74097379 74098970 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318132 S 1 0 1 "" NA18507 esv1918981 18 74098095 74098829 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570564 S 1 0 1 "" NA18507 esv5370 18 74098200 74098684 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27811 S 1 0 1 Single Asian sample YH "" YH esv1011219 18 74098278 74098609 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575526 S 3 0 1 "" HuRef esv1017441 18 74098284 74098616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973884 S 2 0 1 "" HuRef esv5736 18 74098289 74098647 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28177 S 1 0 1 "" SJK nsv2367 18 74108474 74143162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1426 S 9 1 0 "" NA19240 dgv1053e1 18 74125373 74378820 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15088,essv20223,esv385,essv16200,essv13532 M 271 0 0 "" NA12144,NA19129,NA19160,NA19161 esv1008573 18 74160635 74160635 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567614 S 3 1 0 "" HuRef esv1088064 18 74160636 74160636 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787460 S 2 1 0 "" HuRef nsv130878 18 74169674 74173564 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149456 M 24 "" nsv909957 18 74217265 74265626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530925 S 6533 0 1 "" MS10311 nsv2368 18 74222829 74247926 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6765 S 9 0 1 "" NA12156 nsv9645 18 74229210 74234412 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27345,nssv24636,nssv21791,nssv26341,nssv24695,nssv25043,nssv25089,nssv21949,nssv21305,nssv23917,nssv26704,nssv27195,nssv28417,nssv24261,nssv24419,nssv27367,nssv23901,nssv27653,nssv25833,nssv23528 M 31 7 13 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19007,NA19132,NA19144,NA19221,NA19240 esv989326 18 74230105 74234538 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565607 S 3 0 1 "" HuRef esv2596102 18 74230685 74234540 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322047 S 1 0 1 "" NA18507 esv29256 18 74230931 74234271 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20544 S 451 6 15 "" NA06985,NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18907,NA19129,NA19147,NA19225,NA19240,NA19257 nsv820395 18 74230931 74234296 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420009 S 1 0 1 "" NA10851 esv1476708 18 74231716 74232450 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323805 S 2 0 1 "" HuRef nsv909958 18 74232199 74363231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548835 S 6533 1 0 "" MS17878 esv1544896 18 74233253 74233367 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756317 S 2 0 1 "" HuRef esv1318348 18 74233446 74233636 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770541 S 2 0 1 "" HuRef esv1052265 18 74233715 74233829 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949440 S 2 0 1 "" HuRef esv2002639 18 74233918 74234390 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735168 S 1 0 1 "" NA18507 esv1268262 18 74234081 74234195 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073861 S 2 0 1 "" HuRef nsv517617 18 74244128 74278929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658169,nssv653365,nssv667994,nssv701361,nssv683519,nssv668700,nssv685066,nssv693633,nssv676297,nssv663830,nssv655503,nssv689790,nssv686712,nssv684525,nssv687973,nssv662425,nssv661017,nssv684545,nssv656729,nssv677300,nssv652554,nssv673506,nssv678345,nssv666283,nssv652532,nssv680999,nssv690817,nssv691651 M 2026 0 28 "" nsv909959 18 74244128 74296139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546981 S 6533 0 1 "" MS17208 nsv817809 18 74258734 74260996 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418111,nssv1418110 M 112 0 2 "" NA10859,NA11881 esv2287251 18 74261527 74261991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814581 S 1 0 1 "" NA18507 esv270387 18 74270058 74270441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504177,essv2495696,essv2498772 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18916,NA19138 esv2098120 18 74270410 74270910 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719333 S 1 0 1 "" NA18507 esv4348 18 74270452 74270990 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26789 S 1 0 1 Single Asian sample YH "" YH esv24955 18 74270489 74272382 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19073 S 451 0 1 "" NA18916 esv7666 18 74270532 74270780 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30107 S 1 0 1 "" SJK esv999725 18 74270606 74270836 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567650 S 3 0 1 "" HuRef esv1769317 18 74270615 74270846 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648106 S 2 0 1 "" HuRef nsv2369 18 74278870 74323832 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7419 S 9 0 1 "" NA12156 nsv909960 18 74278929 74329531 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580589 S 6533 1 0 "" IS35385 nsv132118 18 74282962 74282962 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150696 M 24 "" esv1124298 18 74283027 74283027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154579 S 2 1 0 "" HuRef nsv2370 18 74288034 74321378 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7420 S 9 1 0 "" NA12156 esv999001 18 74290515 74290515 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583215 S 3 1 0 "" HuRef nsv131570 18 74290517 74290517 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150148 M 24 "" esv1451577 18 74292016 74292073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836125 S 2 0 1 "" HuRef esv1958172 18 74292072 74292426 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541848 S 1 0 1 "" NA18507 nsv9647 18 74294454 74299615 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27205,nssv23953,nssv27376,nssv26745,nssv24317,nssv27354,nssv25114,nssv25854,nssv28418,nssv24703,nssv24721,nssv27311 M 31 4 8 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA12740,NA18502,NA18517,NA18853,NA18972,NA19007,NA19132,NA19144,NA19221,NA19240 esv270620 18 74295171 74295453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496852,essv2505262,essv2505861,essv2493963,essv2509185,essv2502132 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18853,NA18861,NA18871,NA18909,NA19257 esv991470 18 74295248 74297339 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565081 S 3 1 0 "" HuRef nsv499729 18 74298102 74299423 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585610 S 9 1 0 "" esv26809 18 74298110 74299395 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12333 S 451 7 18 "" NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12287,NA12414,NA12489,NA12776,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821199 18 74298110 74299450 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420010 S 1 0 1 "" NA10851 esv1003671 18 74302641 74305255 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564376 S 3 1 0 "" HuRef esv2496251 18 74302909 74305460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340460 S 1 0 1 "" NA18507 esv2077868 18 74302916 74304537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865271 S 1 0 1 "" NA18507 esv4970 18 74303080 74304470 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27411 S 1 0 1 Single Asian sample YH "" YH nsv498888 18 74303107 74304345 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585749 S 9 0 1 "" esv6928 18 74303113 74304329 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29369 S 1 0 1 "" SJK nsv509703 18 74308970 74405562 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619733,nssv621053 M 4 2 0 "" NA10860,NA15510 nsv909961 18 74331973 74374152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538728 S 6533 0 1 "" MS13770 nsv9648 18 74345318 74348255 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25026 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 esv2494528 18 74345859 74347943 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278906 S 1 0 1 "" NA18507 esv2022650 18 74346209 74346829 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542061 S 1 0 1 "" NA18507 nsv130976 18 74354442 74354561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149554 M 24 "" nsv2371 18 74362481 74385085 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10169,nssv4334 M 9 2 0 "" NA12878,NA18956 esv23659 18 74363392 74366177 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18126,esv12592 M 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1001355 18 74365354 74365404 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581152 S 3 0 1 "" HuRef nsv9649 18 74371016 74381593 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21335,nssv24496,nssv25139,nssv25875,nssv26619,nssv21821,nssv25192,nssv27320,nssv24343,nssv24010,nssv25068,nssv23736,nssv25051,nssv24747,nssv27385,nssv24445,nssv24662,nssv21979,nssv23928 M 31 16 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18972,NA18980,NA19007,NA19144 esv27229 18 74373346 74375961 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19665 S 451 3 0 "" NA11995,NA12004,NA19129 nsv821022 18 74373346 74375961 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420011 S 1 0 1 "" NA10851 esv2478821 18 74373822 74376512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309568 S 1 0 1 "" NA18507 esv999664 18 74375433 74375790 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568649 S 3 0 1 "" HuRef esv1629908 18 74378650 74378650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291549 S 2 1 0 "" HuRef esv24792 18 74379293 74379828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17560 S 451 0 1 "" NA18858 nsv820898 18 74390329 74398588 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420012 S 1 0 1 "" NA10851 nsv437178 18 74390771 74398377 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467059 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10851 nsv9650 18 74390826 74398660 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27329,nssv21851,nssv24772,nssv25896,nssv27661,nssv22009,nssv21365,nssv25076,nssv25217,nssv24522,nssv25535,nssv21460,nssv25093,nssv24037,nssv26632,nssv27215,nssv27424,nssv26756,nssv25194,nssv23556,nssv23955,nssv24688,nssv24471,nssv23763,nssv28419,nssv24729,nssv26357,nssv23944,nssv27363,nssv24369 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv527813 18 74391061 74397540 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704307 S 2026 0 1 "" esv29219 18 74391384 74397871 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15179 S 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv833700 18 74393755 74532331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454137 S 95 1 0 "" nsv438300 18 74394310 74397540 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470743,nssv470744 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10851,NA12056 nsv819364 18 74394582 74397903 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419527 S 2 1 0 "" AK1 dgv562n67 18 74396449 74397407 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828322,nsv828323 M 31 2 0 "" AK4,NA18968 nsv909962 18 74397540 74493777 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548836 S 6533 1 0 "" MS17878 nsv458310 18 74400046 74449768 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535266 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00794 nsv909963 18 74405696 74448466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596080 S 6533 0 1 "" IS40396 esv29929 18 74407618 74408253 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11070 S 451 1 0 "" NA12489 dgv563n67 18 74439157 74440116 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828325,nsv828324,nsv828326 M 31 5 0 "" NA18526,NA18542,NA18564,NA18951,NA18968 esv2159195 18 74445368 74445888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770986 S 1 0 1 "" NA18507 esv996593 18 74445609 74445679 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568964 S 3 0 1 "" HuRef esv1060099 18 74445628 74445699 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657598 S 2 0 1 "" HuRef nsv909964 18 74456072 74511521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591349 S 6533 1 0 "" IS38696 nsv512549 18 74473808 74476231 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625156 S 1 0 1 "" 1 esv1007302 18 74473884 74474719 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564276 S 3 0 1 "" HuRef esv2587112 18 74473980 74476062 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368355 S 1 0 1 "" NA18507 esv26624 18 74474482 74475417 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19592 S 451 9 0 "" NA07045,NA12006,NA12878,NA18508,NA18907,NA18909,NA19114,NA19147,NA19190 nsv820707 18 74474482 74475417 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420013 S 1 0 1 "" NA10851 esv2078322 18 74474491 74475536 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790624 S 1 0 1 "" NA18507 esv9234 18 74474589 74475421 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31675 S 1 0 1 "" SJK esv1118846 18 74474859 74474943 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334854 S 2 0 1 "" HuRef esv1020895 18 74474955 74475515 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4155064 S 2 0 1 "" HuRef nsv2372 18 74479797 74497358 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1427 S 9 1 0 "" NA19240 esv2257322 18 74482300 74482768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966554 S 1 0 1 "" NA18507 esv2751780 18 74485052 74613300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981316,essv6985542,essv6985543,essv6981317,essv6981318 M 771 1 0 "" BEC_385 dgv3473n71 18 74487161 74531353 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909965,nsv909967 M 6533 0 3 "" MS10311,MS16153,MS17208 esv2336182 18 74493678 74494088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678048 S 1 0 1 "" NA18507 esv29284 18 74493793 74494886 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15052 S 451 8 0 "" NA18508,NA18858,NA18861,NA18907,NA19099,NA19114,NA19147,NA19240 nsv820539 18 74493793 74494886 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420014 S 1 0 1 "" NA10851 nsv130575 18 74493868 74493961 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149153 M 24 "" nsv909966 18 74494328 74660475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570831 S 6533 0 1 "" IS32322 nsv2373 18 74502533 74525402 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2987 S 9 1 0 "" NA18555 nsv130989 18 74512435 74512435 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149567 M 24 "" esv990433 18 74512475 74512475 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582495 S 3 1 0 "" HuRef esv1137431 18 74512506 74512506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686436 S 2 1 0 "" HuRef nsv511606 18 74512828 74516951 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626236 S 1 0 1 "" 1 esv25291 18 74513574 74522245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19661,esv17020,esv13508 M 451 0 8 "" NA06985,NA07037,NA11993,NA12287,NA18909,NA19108,NA19190,NA19225 esv1004892 18 74513850 74522245 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586304 S 3 0 1 "" HuRef esv1514660 18 74513999 74514086 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664306 S 2 0 1 "" HuRef esv1343965 18 74514087 74514173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127731 S 2 0 1 "" HuRef esv1437193 18 74514195 74514350 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593126 S 2 0 1 "" HuRef esv1606338 18 74514361 74514463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233782 S 2 0 1 "" HuRef esv1088307 18 74514570 74516292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939524 S 2 0 1 "" HuRef nsv130937 18 74514630 74514734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149515 M 24 "" dgv3474n71 18 74542139 74696213 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909969,nsv909970,nsv909968 M 6533 0 3 "" MS10311,MS16153,MS17208 nsv909971 18 74559468 74597608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592399 S 6533 0 1 "" IS39233 nsv458311 18 74566171 74592329 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535267 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00898 esv2516306 18 74599423 74600442 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391217 S 1 1 0 "" NA18507 esv24986 18 74614841 74615451 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12864 S 451 0 1 "" NA12044 nsv131862 18 74615355 74615506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150440 M 24 "" nsv909972 18 74627006 74655800 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578794,nssv1550588,nssv1571561 M 6533 1 2 "" IS32737,IS34908,MS18479 dgv3475n71 18 74627006 74667117 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909976,nsv909975,nsv909973,nsv909974 M 6533 0 5 "" IS33684,IS39473,IS40396,MS13770,MS18276 dgv3476n71 18 74627006 74694826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909981,nsv909977 M 6533 0 2 "" IS33455,MS10769 nsv526473 18 74634753 74636680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702779 S 2026 0 1 "" nsv909978 18 74636680 74708523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572900 S 6533 1 0 "" IS33192 dgv3477n71 18 74638572 74667117 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909980,nsv909979 M 6533 0 2 "" IS33665,MS13095 esv25682 18 74642892 74644142 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13696 S 451 2 0 "" NA12239,NA12489 esv988979 18 74642917 74643712 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579114 S 3 0 1 "" HuRef esv1714038 18 74642917 74643713 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866820 S 2 0 1 "" HuRef esv1419526 18 74643888 74643888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135191 S 2 1 0 "" HuRef nsv2374 18 74658455 74683343 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5713 S 9 1 0 "" NA19129 esv2497100 18 74660506 74660649 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365407 S 1 0 1 "" NA18507 esv1404974 18 74661608 74661608 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906057 S 2 1 0 "" HuRef nsv909982 18 74672711 74708523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590491 S 6533 1 0 "" IS38515 esv1449817 18 74680716 74680716 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267478 S 2 1 0 "" HuRef esv21467 18 74692989 74702736 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10725,esv19307,esv12133,esv17855 M 451 0 5 "" NA11995,NA12239,NA12828,NA18523,NA18907 nsv433452 18 74693156 74702191 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463333 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12156 esv1239373 18 74693229 74693325 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974406 S 2 0 1 "" HuRef esv1139695 18 74693346 74693622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306515 S 2 0 1 "" HuRef esv1177529 18 74693856 74693906 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145379 S 2 0 1 "" HuRef esv2450323 18 74695635 74697262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324757 S 1 0 1 "" NA18507 esv1515625 18 74696475 74696533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924274 S 2 0 1 "" HuRef nsv130899 18 74700154 74700397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149477 M 24 "" nsv131111 18 74700276 74700397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149689 M 24 "" esv3882 18 74715287 74715835 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26323 S 1 0 1 Single Asian sample YH "" YH esv1201897 18 74715920 74715920 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902782 S 2 1 0 "" HuRef esv28590 18 74716428 74717275 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12038 S 451 10 0 "" NA06985,NA12414,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA19129,NA19190 esv1008499 18 74727474 74727599 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585011 S 3 0 1 "" HuRef esv1193083 18 74727582 74727708 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939790 S 2 0 1 "" HuRef nsv132206 18 74727666 74727790 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150784 M 24 "" dgv3478n71 18 74731402 74865275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909984,nsv909983 M 6533 0 2 SALL3 IS37646,IS40396 nsv458312 18 74735554 74756771 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535268 S 1557 0 1 "" 1780862444_A esv24456 18 74738143 74740628 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19578 S 451 0 2 "" NA18916,NA19147 nsv517026 18 74762665 74766163 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658853,nssv677340,nssv681642,nssv680646,nssv668757,nssv670363,nssv703272,nssv678551,nssv680669,nssv686662,nssv683559,nssv665332,nssv691768,nssv658430,nssv678415,nssv652395,nssv655236,nssv678696,nssv661049,nssv660352,nssv667048,nssv692628,nssv675148,nssv661561,nssv689843,nssv668903,nssv672783,nssv667653,nssv671149,nssv685980,nssv653637,nssv660717,nssv677301,nssv669320,nssv660305,nssv652689 M 2026 1 35 "" nsv522228 18 74762665 74777090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695005 S 2026 0 1 "" esv27482 18 74763549 74767192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9785 S 451 0 3 "" NA11931,NA12828,NA12878 nsv442450 18 74763700 74765854 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv521948 18 74763702 74769610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694717 S 2026 0 1 "" nsv514886 18 74763920 74765864 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628324 S 1414 0 0 "" nsv521955 18 74776799 74788302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694724 S 2026 0 1 "" esv22607 18 74777156 74778555 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12365 S 451 0 4 "" NA11993,NA19099,NA19108,NA19147 esv1955371 18 74777284 74777672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835069 S 1 0 1 "" NA18507 nsv2375 18 74782564 74815685 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4335 S 9 1 0 "" NA12878 dgv3479n71 18 74792833 74883300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909986,nsv909985 M 6533 0 2 SALL3 IS33684,MS16153 esv2217820 18 74803414 74803835 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649033 S 1 0 1 "" NA18507 nsv131811 18 74810764 74810923 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150389 M 24 "" nsv458313 18 74812012 74883300 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535269 S 1557 0 1 SALL3 1780862415_A dgv564n67 18 74813763 74874924 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828329,nsv828331,nsv828328,nsv828336,nsv828337,nsv828334,nsv828335,nsv828332,nsv828327 M 31 9 0 SALL3 AK10,AK12,AK18,NA18542,NA18949,NA18951,NA18968,NA18969,NA18997 nsv828333 18 74816937 74878290 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435517 S 31 0 1 SALL3 NA18942 dgv3480n71 18 74820848 74865275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909987,nsv909988 M 6533 0 7 SALL3 SP51109,SP54725,SP54956,SP54967,SP54988,SP55019,SP55021 nsv828338 18 74824802 74862717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427147 S 31 1 0 SALL3 AK6 esv1416926 18 74826204 74826204 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127441 S 2 1 0 "" HuRef dgv565n67 18 74835282 74854909 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828340,nsv828339 M 31 2 0 SALL3 AK4,AK8 nsv828342 18 74837537 74844532 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431148 S 31 1 0 SALL3 NA18947 esv29012 18 74840415 74842027 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15992 S 451 0 1 SALL3 NA12489 nsv2377 18 74852255 74886439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1428,nssv9331,nssv10170 M 9 3 0 SALL3 NA18517,NA18956,NA19240 nsv510947 18 74861809 74889275 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618679 S 4 0 0 "" CHM nsv509704 18 74873869 74938226 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619735,nssv623738,nssv619734 M 4 2 0 ATP9B NA10860,NA18994 esv1006263 18 74874443 74883274 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565472 S 3 0 1 "" HuRef esv2589959 18 74874753 74878057 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202662 S 1 0 1 "" NA18507 nsv514887 18 74875104 74878136 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627189 S 1414 0 0 "" nsv821545 18 74875198 74878203 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420016 S 1 1 0 "" NA10851 esv2077177 18 74875235 74876427 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519821 S 1 0 1 "" NA18507 dgv28n47 18 74875298 74878261 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499566,nsv499523 M 9 2 0 "" esv28178 18 74875302 74878203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20834 S 451 0 24 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA12006,NA12044,NA12156,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18861,NA18907,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv2378 18 74891685 74906441 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2203 S 9 1 0 "" NA18555 esv1004823 18 74893735 74898030 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586089 S 3 0 1 "" HuRef esv28444 18 74893735 74900979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20775,esv15488 M 451 0 29 "" NA07037,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240,NA19257 nsv131086 18 74894212 74894803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149664 M 24 "" esv1776563 18 74894267 74894637 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171571 S 2 0 1 "" HuRef esv1376844 18 74896101 74897285 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714825 S 2 0 1 "" HuRef esv1244226 18 74897545 74897693 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878460 S 2 0 1 "" HuRef esv1599208 18 74900276 74900276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745227 S 2 1 0 "" HuRef nsv513502 18 74902990 74904518 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625912 S 1 1 0 "" 1 esv2540949 18 74903930 74904693 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257504 S 1 1 0 "" NA18507 nsv438301 18 74911018 74925033 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470745 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18582 esv24030 18 75005943 75007779 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19832 S 451 0 12 ATP9B NA06985,NA07037,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12878,NA18505,NA19108,NA19129 nsv820421 18 75005943 75007826 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420017 S 1 0 1 ATP9B NA10851 esv1783371 18 75006147 75007152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161598 S 2 0 1 ATP9B HuRef nsv2379 18 75008652 75034510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2988 S 9 1 0 ATP9B NA18555 esv2618492 18 75032572 75034077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277703 S 1 0 1 ATP9B NA18507 esv2199105 18 75033121 75033720 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786937 S 1 0 1 ATP9B NA18507 nsv909989 18 75046473 75169730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539139 S 6533 1 0 ATP9B MS14210 nsv509705 18 75056531 75065875 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623739 S 4 1 0 ATP9B NA18994 esv2585896 18 75061230 75061695 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189850 S 1 1 0 ATP9B NA18507 esv7963 18 75061599 75061693 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30404 S 1 1 0 ATP9B SJK esv1190688 18 75061714 75061714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279656 S 2 1 0 ATP9B HuRef nsv131327 18 75096638 75096638 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149905 M 24 ATP9B nsv130781 18 75096760 75096760 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149359 M 24 ATP9B esv1713949 18 75098059 75098328 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735211 S 2 0 1 ATP9B HuRef esv2450569 18 75106459 75108092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259977 S 1 0 1 ATP9B NA18507 esv2335299 18 75106858 75107516 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693120 S 1 0 1 ATP9B NA18507 esv1119288 18 75107110 75107184 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773007 S 2 0 1 ATP9B HuRef nsv428359 18 75138536 76114092 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453602 S 62 1 0 ADNP2,ATP9B,CTDP1,HSBP1L1,KCNG2,LOC100130522,NFATC1,PARD6G,PQLC1,RBFA,TXNL4A HGDP00467 nsv828343 18 75158627 75159879 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422266 S 31 0 1 ATP9B NA18997 esv3212 18 75158701 75160112 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25653 S 1 0 1 Single Asian sample YH ATP9B YH esv25299 18 75158729 75160076 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15325 S 451 0 13 ATP9B NA06985,NA11894,NA12004,NA12749,NA12878,NA18505,NA18523,NA18861,NA18916,NA19099,NA19114,NA19225,NA19257 esv6904 18 75158732 75160013 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29345 S 1 0 1 ATP9B SJK nsv131643 18 75158735 75159972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150221 M 24 ATP9B nsv131751 18 75169628 75170491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150329 M 24 ATP9B esv23740 18 75169632 75170778 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20755 S 451 0 1 ATP9B NA07037 nsv909990 18 75170621 75228132 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556416 S 6533 1 0 ATP9B MS22000 nsv909991 18 75170621 75278365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552029 S 6533 1 0 ATP9B,NFATC1 MS19119 nsv509706 18 75176077 75307146 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621055,nssv621054 M 4 1 0 ATP9B,NFATC1 NA15510 esv23162 18 75188417 75189266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16822 S 451 0 4 ATP9B NA06985,NA12828,NA18505,NA18916 esv2578938 18 75196610 75197400 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207287 S 1 1 0 ATP9B NA18507 esv1174461 18 75197174 75197174 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103124 S 2 1 0 ATP9B HuRef esv1733392 18 75197216 75197216 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851389 S 2 1 0 ATP9B HuRef esv2312062 18 75197993 75198386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754315 S 1 0 1 ATP9B NA18507 esv1522973 18 75202322 75202383 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829327 S 2 0 1 ATP9B HuRef esv1259444 18 75202455 75202516 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019573 S 2 0 1 ATP9B HuRef nsv132147 18 75207393 75207531 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150725 M 24 ATP9B esv992301 18 75207495 75207633 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576474 S 3 0 1 ATP9B HuRef esv1264547 18 75207569 75207708 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074124 S 2 0 1 ATP9B HuRef nsv131338 18 75207570 75207708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149916 M 24 ATP9B esv26605 18 75212252 75220040 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19702,esv19035 M 451 1 10 ATP9B NA18502,NA18505,NA18517,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19147,NA19257 esv1008165 18 75216825 75219835 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586439 S 3 1 0 ATP9B HuRef esv1077708 18 75217822 75217822 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745817 S 2 1 0 ATP9B HuRef esv1673763 18 75218210 75218210 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922542 S 2 1 0 ATP9B HuRef esv1056624 18 75218344 75218344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265161 S 2 1 0 ATP9B HuRef esv1427355 18 75218696 75219068 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164960 S 2 0 1 ATP9B HuRef dgv3481n71 18 75219276 75263701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909994,nsv909992 M 6533 0 3 ATP9B,NFATC1 IS38176,MS11726,MS13770 nsv131739 18 75224576 75224687 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150317 M 24 ATP9B dgv3482n71 18 75224938 75400268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv909998,nsv909997,nsv909993,nsv910003,nsv909999,nsv909996,nsv910007 M 6533 0 7 ATP9B,NFATC1 IS32737,IS33684,IS35484,MS10311,MS10769,MS16153,SP54956 nsv909995 18 75228203 75342653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592400,nssv1549950 M 6533 0 2 ATP9B,NFATC1 IS39233,MS18276 nsv910000 18 75228203 75798098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586042 S 6533 0 1 ATP9B,CTDP1,KCNG2,NFATC1,PQLC1 IS37646 nsv130751 18 75235246 75235337 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149329 M 24 ATP9B nsv910001 18 75235536 75278365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556417 S 6533 1 0 ATP9B,NFATC1 MS22000 nsv910002 18 75238190 75274967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511556 S 6533 0 1 ATP9B,NFATC1 SP55021 nsv2380 18 75240545 75274429 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5714 S 9 1 0 NFATC1 NA19129 dgv3483n71 18 75249961 75278365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910005,nsv910004 M 6533 0 2 NFATC1 IS39417,MS10698 dgv3484n71 18 75251323 75342653 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910008,nsv910006,nsv910010,nsv910011 M 6533 0 4 NFATC1 IS32322,IS37172,IS40396,SP54988 nsv828344 18 75253632 75274768 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427148 S 31 1 0 NFATC1 AK6 nsv525694 18 75256172 75822113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701853 S 2026 0 1 CTDP1,KCNG2,NFATC1,PQLC1 nsv910009 18 75259213 76067271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546984 S 6533 0 1 ADNP2,CTDP1,HSBP1L1,KCNG2,LOC100130522,NFATC1,PARD6G,PQLC1,RBFA,TXNL4A MS17208 esv2651032 18 75269216 75270736 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198582 S 1 0 1 NFATC1 NA18507 esv1006618 18 75269490 75270252 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563477 S 3 0 1 NFATC1 HuRef esv2012703 18 75269752 75270359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776143 S 1 0 1 NFATC1 NA18507 esv3900 18 75269869 75270308 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26341 S 1 0 1 Single Asian sample YH NFATC1 YH esv1785248 18 75270002 75270202 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089286 S 2 0 1 NFATC1 HuRef dgv3485n71 18 75270559 75391973 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910016,nsv910012 M 6533 2 0 NFATC1 IS38461,MS22000 nsv833701 18 75275649 75427593 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454140,nssv1454138,nssv1454139 M 95 0 3 NFATC1 nsv910013 18 75282991 75326142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544327 S 6533 0 1 NFATC1 MS16315 dgv3486n71 18 75282991 75365109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910018,nsv910021,nsv910017,nsv910015,nsv910014 M 6533 0 6 NFATC1 IS33601,IS38176,IS39258,IS39417,IS40230,MS10698 dgv3487n71 18 75288153 75389794 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910020,nsv910019 M 6533 0 2 NFATC1 IS32841,IS33504 nsv458315 18 75293104 75321604 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535270 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NFATC1 HGDP00372 nsv522375 18 75300466 75308112 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695154 S 2026 0 1 NFATC1 nsv522642 18 75301833 75312752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706042 S 2026 0 1 NFATC1 nsv518913 18 75301833 75352049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696372 S 2026 0 1 NFATC1 dgv3488n71 18 75301833 75365109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910022,nsv910023 M 6533 0 2 NFATC1 IS31656,MS11467 nsv509707 18 75314994 75440438 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621056 S 4 1 0 NFATC1 NA15510 nsv523985 18 75328464 75351626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699841 S 2026 0 1 NFATC1 nsv828345 18 75329092 75329594 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435520 S 31 0 1 NFATC1 NA18942 nsv910024 18 75333697 75388784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537156 S 6533 0 1 NFATC1 MS13095 esv29064 18 75334363 75336323 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18304 S 451 1 0 NFATC1 NA07045 esv2413184 18 75334440 75334770 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655928 S 1 0 1 NFATC1 NA18507 nsv131115 18 75334659 75334738 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149693 M 24 NFATC1 nsv131042 18 75334659 75335534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149620 M 24 NFATC1 esv1967866 18 75342611 75342982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504784 S 1 0 1 NFATC1 NA18507 esv2047377 18 75342805 75343463 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698013 S 1 0 1 NFATC1 NA18507 esv2174956 18 75343787 75344280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865681 S 1 0 1 NFATC1 NA18507 nsv131868 18 75349238 75349287 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150446 M 24 NFATC1 esv25051 18 75365694 75367034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14040 S 451 0 4 NFATC1 NA18502,NA19190,NA19240,NA19257 esv1043802 18 75366457 75366514 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091388 S 2 0 1 NFATC1 HuRef esv1593083 18 75366544 75366601 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851625 S 2 0 1 NFATC1 HuRef nsv910025 18 75380738 75418856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549951 S 6533 0 1 NFATC1 MS18276 esv28648 18 75381478 75383653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17779 S 451 0 1 NFATC1 NA12414 esv1062567 18 75381711 75381711 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626124 S 2 1 0 NFATC1 HuRef nsv130687 18 75386353 75386550 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149265 M 24 NFATC1 nsv910026 18 75387291 75506719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530929 S 6533 0 1 NFATC1 MS10311 esv1685115 18 75393196 75393196 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132983 S 2 1 0 "" HuRef nsv910027 18 75400268 75452343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592401,nssv1544328 M 6533 0 2 "" IS39233,MS16315 nsv910028 18 75400268 75794374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528235 S 6533 1 0 CTDP1,KCNG2,PQLC1 SP81161 nsv513503 18 75402634 75402985 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625914 S 1 1 0 "" 1 esv1365872 18 75402927 75402927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876502 S 2 1 0 "" HuRef esv1257024 18 75402945 75402945 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646472 S 2 1 0 "" HuRef nsv511603 18 75408356 75413976 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626233 S 1 0 1 "" 1 esv1011085 18 75408478 75414039 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565059 S 3 0 1 "" HuRef nsv512550 18 75410834 75413180 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625157 S 1 0 1 "" 1 esv5143 18 75410899 75413183 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27584 S 1 0 1 Single Asian sample YH "" YH esv5875 18 75410934 75413093 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28316 S 1 0 1 "" SJK esv1009590 18 75410936 75413075 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584520 S 3 0 1 "" HuRef esv1305992 18 75410938 75411952 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998612 S 2 0 1 "" HuRef esv1003587 18 75410960 75413095 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586260 S 3 0 1 "" HuRef esv25227 18 75410960 75413095 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19837,esv9767 M 451 26 11 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv131832 18 75411134 75411183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150410 M 24 "" esv1691316 18 75411970 75413096 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906139 S 2 0 1 "" HuRef esv2152576 18 75420093 75420562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672947 S 1 0 1 "" NA18507 nsv910029 18 75423215 75486867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536677 S 6533 1 0 "" MS12895 nsv910030 18 75427747 75613759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580943 S 6533 0 1 CTDP1 IS35484 esv9544 18 75430803 75430859 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31985 S 1 1 0 "" SJK nsv131023 18 75430869 75430869 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149601 M 24 "" esv7264 18 75430889 75430947 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29705 S 1 1 0 "" SJK nsv910031 18 75431496 75456991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510248 S 6533 0 1 "" SP54956 nsv509708 18 75459644 75532471 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619736,nssv621057 M 4 2 0 "" NA10860,NA15510 nsv2381 18 75462992 75491762 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6766,nssv5715 M 9 2 0 "" NA12156,NA19129 nsv821612 18 75479267 75482097 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420018 S 1 1 0 "" NA10851 esv29153 18 75479427 75481907 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18750 S 451 16 12 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 esv1487938 18 75479583 75479699 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158550 S 2 0 1 "" HuRef nsv132053 18 75481211 75481330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150631 M 24 "" esv1728996 18 75481400 75481400 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940774 S 2 1 0 "" HuRef esv1540426 18 75481479 75481479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663002 S 2 1 0 "" HuRef esv1164290 18 75481744 75481744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274444 S 2 1 0 "" HuRef esv1982889 18 75483590 75484037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837379 S 1 0 1 "" NA18507 esv998255 18 75483756 75483832 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567940 S 3 0 1 "" HuRef esv1621412 18 75483778 75483855 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620997 S 2 0 1 "" HuRef esv1498852 18 75484769 75484769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098287 S 2 1 0 "" HuRef nsv519406 18 75491331 75758307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696836 S 2026 1 0 CTDP1,KCNG2 nsv910032 18 75493367 75574074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527890 S 6533 1 0 CTDP1 SP81061 esv2612268 18 75494371 75495043 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264562 S 1 1 0 "" NA18507 esv1380879 18 75494496 75494496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872970 S 2 1 0 "" HuRef esv1062278 18 75494673 75494847 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365407 S 2 0 1 "" HuRef esv1575004 18 75494973 75495045 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918360 S 2 0 1 "" HuRef esv2108343 18 75503768 75504197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831865 S 1 0 1 "" NA18507 esv2503150 18 75507475 75508985 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383380 S 1 0 1 "" NA18507 esv26714 18 75509552 75510137 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12410 S 451 1 0 "" NA19257 esv1360289 18 75509566 75509566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193454 S 2 1 0 "" HuRef esv1081525 18 75509650 75509801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692637 S 2 0 1 "" HuRef dgv3489n71 18 75518922 75625484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910033,nsv910036 M 6533 0 3 CTDP1 IS33455,IS33504,IS33797 nsv470437 18 75518922 75962647 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547163 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTDP1,HSBP1L1,KCNG2,PQLC1,RBFA,TXNL4A HGDP00954 nsv910034 18 75528076 75579565 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539636 S 6533 1 0 CTDP1 MS14396 nsv910035 18 75528076 75613759 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536678,nssv1571971 M 6533 1 1 CTDP1 IS32841,MS12895 esv2531346 18 75545780 75545921 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391763 S 1 1 0 CTDP1 NA18507 esv1011198 18 75545946 75545946 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571255 S 3 1 0 CTDP1 HuRef esv1046194 18 75546020 75546020 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030261 S 2 1 0 CTDP1 HuRef esv1368125 18 75546069 75546069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176740 S 2 1 0 CTDP1 HuRef nsv509709 18 75546356 75699363 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619738 S 4 1 0 CTDP1 NA10860 esv1626049 18 75548081 75548401 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4216369 S 2 0 1 CTDP1 HuRef dgv3490n71 18 75550062 75654161 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910037,nsv910038 M 6533 0 2 CTDP1 MS16315,MS18276 nsv910039 18 75550062 75870356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530930 S 6533 0 1 CTDP1,HSBP1L1,KCNG2,PQLC1,TXNL4A MS10311 esv25884 18 75552426 75553296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21255 S 451 0 3 CTDP1 NA18916,NA19129,NA19240 esv988016 18 75555256 75555443 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570084 S 3 0 1 CTDP1 HuRef nsv910040 18 75569936 75746969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592402 S 6533 0 1 CTDP1,KCNG2 IS39233 esv1003318 18 75584506 75594314 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564278 S 3 0 1 CTDP1 HuRef nsv910041 18 75592268 75613759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511007 S 6533 0 1 CTDP1 SP54988 nsv910042 18 75592268 75666154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543766 S 6533 0 1 CTDP1 MS16153 nsv828346 18 75592876 75593940 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421941 S 31 1 0 CTDP1 NA18969 esv2447548 18 75600133 75601579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327223 S 1 0 1 CTDP1 NA18507 esv2926 18 75600633 75601250 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25367 S 1 0 1 Single Asian sample YH CTDP1 YH esv2134672 18 75600638 75601318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552577 S 1 0 1 CTDP1 NA18507 esv996423 18 75600770 75601129 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570606 S 3 0 1 CTDP1 HuRef esv8210 18 75600832 75601179 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30651 S 1 0 1 CTDP1 SJK nsv2382 18 75604004 75634660 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7421 S 9 0 1 CTDP1 NA12156 esv2564978 18 75605505 75607507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260230 S 1 0 1 CTDP1 NA18507 esv28962 18 75605822 75608807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13816,esv13748 M 451 0 15 CTDP1 NA11894,NA12044,NA12156,NA12239,NA12489,NA18502,NA18505,NA18523,NA18858,NA18861,NA18907,NA19099,NA19129,NA19147,NA19225 nsv458316 18 75609169 75649547 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535271 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTDP1 HGDP00954 esv1394695 18 75613607 75613733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923947 S 2 0 1 CTDP1 HuRef esv2440038 18 75625183 75627221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352115 S 1 0 1 "" NA18507 nsv514888 18 75625192 75626080 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627190 S 1414 0 0 "" nsv512551 18 75625199 75627271 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625158 S 1 0 1 "" 1 esv24141 18 75625416 75626546 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9760 S 451 26 1 "" NA07037,NA11894,NA11995,NA12004,NA12006,NA12239,NA12287,NA12489,NA12878,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820634 18 75625416 75626731 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420019 S 1 0 1 "" NA10851 esv1071605 18 75625886 75626574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774010 S 2 0 1 "" HuRef nsv910043 18 75628183 75666154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531991 S 6533 0 1 "" MS10698 esv28980 18 75631776 75632491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15290 S 451 0 1 "" NA07037 nsv511602 18 75631803 75634606 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626231 S 1 0 1 "" 1 esv1129131 18 75632528 75632528 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361142 S 2 1 0 "" HuRef esv1311176 18 75633495 75633495 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222179 S 2 1 0 "" HuRef nsv910044 18 75634710 75680761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593441 S 6533 0 1 "" IS39417 dgv3491n71 18 75640752 75752524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910050,nsv910048,nsv910045 M 6533 0 3 KCNG2 IS32322,MS18276,SP54956 dgv3492n71 18 75640752 75870356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910059,nsv910053,nsv910049,nsv910046 M 6533 0 4 HSBP1L1,KCNG2,PQLC1,TXNL4A IS33504,IS33684,IS34235,MS16153 esv4770 18 75641104 75641702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27211 S 1 0 1 Single Asian sample YH "" YH esv8977 18 75641135 75641491 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31418 S 1 0 1 "" SJK esv1644418 18 75641194 75641299 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4035713 S 2 0 1 "" HuRef nsv910047 18 75641332 75726537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536679 S 6533 1 0 KCNG2 MS12895 esv2015493 18 75642770 75643342 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900003 S 1 0 1 "" NA18507 nsv132060 18 75647137 75647203 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150638 M 24 "" nsv131255 18 75647329 75647395 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149833 M 24 "" esv1003713 18 75656568 75656568 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571106 S 3 1 0 "" HuRef nsv2383 18 75657193 75690224 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5716 S 9 1 0 "" NA19129 nsv512552 18 75668406 75671592 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625159 S 1 0 1 "" 1 esv2413756 18 75668595 75669050 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567728 S 1 0 1 "" NA18507 esv29277 18 75668754 75670669 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13571 S 451 0 3 "" NA06985,NA12044,NA12156 esv1020561 18 75668950 75669130 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590976 S 2 0 1 "" HuRef esv1266255 18 75669358 75669478 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289298 S 2 0 1 "" HuRef esv1267482 18 75669515 75669935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766004 S 2 0 1 "" HuRef dgv3493n71 18 75680761 75770203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910051,nsv910052,nsv910054,nsv910057,nsv910055,nsv910056 M 6533 0 13 KCNG2,PQLC1 IS32737,IS32841,IS33514,IS34057,IS34304,IS35484,IS40230,IS40297,MS10698,MS10769,MS13770,MS16315,MS17825 nsv469607 18 75685835 75831017 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649723 M 265 0 1 Samples from several populations that are part of the HapMap project. HSBP1L1,KCNG2,PQLC1 esv993547 18 75687425 75687490 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575846 S 3 0 1 "" HuRef esv5328 18 75689884 75690272 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27769 S 1 0 1 Single Asian sample YH "" YH nsv910058 18 75690747 75794374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573086 S 6533 0 1 KCNG2,PQLC1 IS33239 nsv130923 18 75692301 75692765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149501 M 24 "" esv1553162 18 75692445 75692569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806398 S 2 0 1 "" HuRef nsv910060 18 75702324 75735349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511008 S 6533 0 1 KCNG2 SP54988 nsv509710 18 75704886 75811038 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619739 S 4 1 0 KCNG2,PQLC1 NA10860 nsv910061 18 75717496 75745996 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506093 S 6533 0 1 KCNG2 SP54043 dgv3494n71 18 75717496 75770203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910063,nsv910062 M 6533 0 2 KCNG2,PQLC1 SP54684,SP55021 esv2625425 18 75717583 75718504 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237166 S 1 1 0 "" NA18507 esv1057576 18 75718057 75718057 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691469 S 2 1 0 "" HuRef esv29216 18 75723358 75725743 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19911 S 451 1 0 KCNG2 NA12044 nsv131019 18 75726401 75726566 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149597 M 24 KCNG2 nsv130639 18 75726677 75726966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149217 M 24 KCNG2 nsv520750 18 75731061 75738412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674978,nssv686764 M 2026 0 2 KCNG2 esv2487517 18 75746309 75748235 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253544 S 1 0 1 KCNG2 NA18507 esv23843 18 75746827 75748192 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10164 S 451 33 0 KCNG2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821139 18 75746827 75748192 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420020 S 1 0 1 KCNG2 NA10851 esv1026680 18 75746869 75748049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184331 S 2 0 1 KCNG2 HuRef nsv130646 18 75748043 75748181 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149224 M 24 KCNG2 esv4697 18 75749140 75749669 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27138 S 1 0 1 Single Asian sample YH KCNG2 YH esv1002151 18 75749360 75749437 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579043 S 3 0 1 KCNG2 HuRef esv23902 18 75752606 75756865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10119 S 451 0 1 KCNG2 NA12828 esv2118355 18 75755085 75755901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690226 S 1 0 1 KCNG2 NA18507 esv1438403 18 75755288 75755288 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068847 S 2 1 0 KCNG2 HuRef nsv130913 18 75755294 75756061 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv149491 M 24 KCNG2 nsv820460 18 75780082 75783242 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420021 S 1 0 1 PQLC1 NA10851 esv26048 18 75780457 75783177 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11878 S 451 10 3 PQLC1 NA06985,NA12044,NA12156,NA12489,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA19099,NA19190,NA19225 esv1573671 18 75782898 75782898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151042 S 2 1 0 PQLC1 HuRef nsv131578 18 75788308 75788372 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv150156 M 24 PQLC1 esv1148746 18 75805901 75805901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025614 S 2 1 0 PQLC1 HuRef esv988335 18 75805986 75805986 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581719 S 3 1 0 PQLC1 HuRef nsv910064 18 75807282 75831185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510250 S 6533 0 1 HSBP1L1,PQLC1 SP54956 esv1629570 18 75808584 75808584 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617828 S 2 1 0 PQLC1 HuRef esv1068304 18 75813580 75813580 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076102 S 2 1 0 "" HuRef esv1520746 18 75813598 75813598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937934 S 2 1 0 "" HuRef nsv910065 18 75849963 75927294 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559410 S 6533 1 0 RBFA MS23957 esv28269 18 75909213 75910158 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17987 S 451 3 0 RBFA NA12489,NA18508,NA19147 esv23876 18 75932161 75932841 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17161 S 451 0 8 "" NA07037,NA12156,NA12414,NA12749,NA12828,NA18508,NA18907,NA19190 esv1593592 18 75932624 75932624 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245710 S 2 1 0 "" HuRef esv1134300 18 75932635 75932635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930520 S 2 1 0 "" HuRef esv29747 18 75934338 75934918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18018 S 451 0 2 "" NA18909,NA19147 dgv3495n71 18 75948990 76075974 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910067,nsv910066 M 6533 2 0 ADNP2,LOC100130522,PARD6G MS17878,SP55500 nsv828347 18 75972905 75976408 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426259 S 31 1 0 ADNP2 AK4 esv275287 18 75977692 75992434 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585492,essv2586121 M 1250 1 1 ADNP2 nsv458317 18 75997233 76075974 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535272 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADNP2,LOC100130522,PARD6G HGDP00752 nsv910068 18 76007491 76108775 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597673 S 6533 1 0 LOC100130522,PARD6G IS40854 nsv910069 18 76007491 76117153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534761 S 6533 0 1 LOC100130522,PARD6G MS11726 esv25081 18 76009800 76011900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15345 S 451 0 1 LOC100130522 NA19190 nsv507886 18 76046976 76052976 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619212,nssv620638 M 4 2 0 PARD6G NA10860,NA15510 nsv910070 19 1 189011 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583158 S 6533 1 0 FAM138A,FAM138F,FLJ45445,OR4F17,WASH5P IS36287 nsv9651 19 11001 128093 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26645,nssv26767,nssv27669,nssv27372,nssv25143,nssv28420,nssv25558,nssv27433,nssv24395,nssv25118,nssv25917,nssv24548,nssv27677,nssv24755,nssv27225,nssv24064,nssv26403,nssv24797,nssv23790,nssv26658,nssv27338,nssv23971,nssv21490,nssv22039,nssv24012 M 31 20 3 Samples from several populations that are part of the HapMap project. FAM138A,FAM138F,OR4F17,WASH5P NA07029,NA07048,NA10839,NA10863,NA12155,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18572,NA18853,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv471520 19 11002 210400 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547892,nssv547891,nssv547893 M 3 FAM138A,FAM138F,FLJ45445,OR4F17,WASH5P esv994482 19 11070 33205 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586674 S 3 1 0 FAM138A,FAM138F,WASH5P HuRef nsv820962 19 11070 73886 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420022 S 1 1 0 FAM138A,FAM138F,OR4F17,WASH5P NA10851 esv22059 19 11070 196320 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14390,esv17209,esv15641,esv11711,esv11126,esv17163,esv12154,esv15629 M 451 34 8 FAM138A,FAM138F,FLJ45445,OR4F17,WASH5P NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv471407 19 61679 62596 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548190,nssv548191,nssv548192 M 3 OR4F17 nsv821117 19 73887 123370 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420023 S 1 0 1 "" NA10851 esv993445 19 149637 151757 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586270 S 3 0 1 FLJ45445 HuRef dgv1054e1 19 183069 327646 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22821,esv265 M 271 0 0 MIER2,PPAP2C,THEG NA12004 nsv428360 19 183069 653131 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453603,nssv453604 M 62 2 0 BSG,C19orf20,C2CD4C,CDC34,FGF22,FSTL3,GZMM,HCN2,MADCAM1,MIER2,ODF3L2,POLRMT,PPAP2C,PRSS57,RNF126,SHC2,THEG HGDP00467,NA19113 nsv833702 19 189657 353129 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454141 S 95 0 1 MIER2,PPAP2C,THEG nsv512553 19 198673 206189 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625160 S 1 0 1 "" 1 esv2422333 19 202718 355517 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161416 S 181 1 0 MIER2,PPAP2C,THEG ND01666 nsv910071 19 207649 252619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527092 S 6533 1 0 PPAP2C SP58141 nsv910072 19 207649 291700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518799 S 6533 1 0 MIER2,PPAP2C SP58155 dgv3496n71 19 207649 317451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910073,nsv910074 M 6533 0 2 MIER2,PPAP2C,THEG MS16153,MS18276 nsv9652 19 217988 226953 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25101,nssv27235 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18980,NA19132 esv2463047 19 220537 222149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235212 S 1 0 1 "" NA18507 esv2060795 19 220569 221078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630032 S 1 0 1 "" NA18507 nsv138494 19 220752 220752 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157072 M 24 "" esv1162378 19 220777 220777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598516 S 2 1 0 "" HuRef dgv3497n71 19 233753 317451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910079,nsv910075,nsv910078,nsv910076 M 6533 0 5 MIER2,PPAP2C,THEG IS39233,IS40396,IS40502,IS41410,MS13770 nsv910077 19 233753 339413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532509 S 6533 0 1 MIER2,PPAP2C,THEG MS10769 dgv3498n71 19 239246 532070 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910082,nsv910080 M 6533 0 2 BSG,C19orf20,C2CD4C,CDC34,GZMM,MADCAM1,MIER2,ODF3L2,PPAP2C,SHC2,THEG IS33504,IS33684 nsv9653 19 240981 243869 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25219 S 31 1 0 Samples from several populations that are part of the HapMap project. PPAP2C NA12740 nsv523433 19 243082 245526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699188 S 2026 0 1 "" nsv910081 19 243901 267040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511558 S 6533 0 1 MIER2 SP55021 nsv518514 19 244913 252619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695954 S 2026 0 1 "" esv21484 19 245121 252705 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17018,esv18055 M 451 1 7 "" NA12004,NA12006,NA12239,NA12828,NA15510,NA18517,NA18909,NA19240 nsv820604 19 247867 252705 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420024 S 1 0 1 "" NA10851 nsv9654 19 247972 253507 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27347 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 esv1008709 19 251174 251501 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585439 S 3 0 1 "" HuRef esv1531041 19 251365 251693 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890366 S 2 0 1 "" HuRef nsv9655 19 251836 255707 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21520,nssv25244,nssv26671,nssv25126 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA12740,NA12802,NA18504,NA18980 esv1344228 19 251864 252024 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663605 S 2 0 1 "" HuRef esv8818 19 253549 254511 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31259 S 1 0 1 "" SJK esv1153640 19 253718 253718 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337586 S 2 1 0 "" HuRef esv1133698 19 253879 254074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969663 S 2 0 1 "" HuRef esv1210107 19 254133 254481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979468 S 2 0 1 "" HuRef nsv9656 19 254742 264997 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26418 S 31 1 0 Samples from several populations that are part of the HapMap project. MIER2 NA12155 esv1259902 19 255011 255173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626759 S 2 0 1 "" HuRef nsv138180 19 263122 263178 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156758 M 24 MIER2 nsv9659 19 273796 276648 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27381,nssv25151 M 31 2 0 Samples from several populations that are part of the HapMap project. MIER2 NA18502,NA18980 esv2016015 19 274959 275786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589717 S 1 0 1 MIER2 NA18507 esv1399571 19 284274 284968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160892 S 2 0 1 MIER2 HuRef nsv910083 19 291700 459626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546985 S 6533 0 1 C19orf20,C2CD4C,MADCAM1,MIER2,ODF3L2,SHC2,THEG MS17208 nsv509711 19 305479 337439 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619740 S 4 1 0 THEG NA10860 dgv3499n71 19 307003 378604 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910084,nsv910086 M 6533 0 2 C2CD4C,SHC2,THEG IS35484,IS40230 nsv9660 19 309687 316399 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26684,nssv27356,nssv27420,nssv24091,nssv27442,nssv22069,nssv21455,nssv25938,nssv23584,nssv26778,nssv26433,nssv24497,nssv24039,nssv21881,nssv21550,nssv23817,nssv24421,nssv27685,nssv27245,nssv24634,nssv24822,nssv25581,nssv24780,nssv24028,nssv24714,nssv28451,nssv25198,nssv25206 M 31 0 28 Samples from several populations that are part of the HapMap project. THEG NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2135609 19 310971 311525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829170 S 1 0 1 "" NA18507 nsv138274 19 311057 312400 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156852 M 24 "" esv24777 19 311148 312903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18586 S 451 0 26 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18858,NA18907,NA18909,NA18916,NA19129,NA19147,NA19190,NA19225,NA19240 nsv522660 19 314127 315695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706062 S 2026 0 1 THEG nsv910085 19 318313 351304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530390 S 6533 0 1 THEG MS10311 dgv3500n71 19 323661 469686 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910087,nsv910093,nsv910100,nsv910111,nsv910110 M 6533 0 5 C19orf20,C2CD4C,MADCAM1,ODF3L2,SHC2,THEG IS34235,MS10311,MS13770,MS16153,MS18276 esv1010364 19 326718 330405 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565154 S 3 1 0 THEG HuRef esv27916 19 327486 333829 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12041,esv9792,esv16763 M 451 11 3 "" NA11894,NA11995,NA12006,NA12414,NA12749,NA12878,NA18523,NA18861,NA18907,NA18909,NA19108,NA19114,NA19190,NA19240 esv8994 19 327694 328269 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31435 S 1 0 1 "" SJK nsv511615 19 327701 328718 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626246 S 1 0 1 "" 1 esv1218282 19 327776 327909 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629998 S 2 0 1 "" HuRef esv1325732 19 327925 327976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230113 S 2 0 1 "" HuRef dgv3501n71 19 330003 378604 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910088,nsv910092,nsv910091 M 6533 11 0 C2CD4C,SHC2 MS10596,MS10669,MS12055,MS14437,MS15600,MS15834,MS16122,MS17158,MS17271,MS21275,MS21677 nsv9661 19 331314 333948 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26696,nssv24118,nssv24447,nssv25269,nssv26789,nssv25989,nssv24805,nssv24847,nssv23844,nssv24066 M 31 10 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA12740,NA18504,NA18853,NA19007,NA19144,NA19240 nsv138495 19 331876 332023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157073 M 24 "" nsv910089 19 333559 357370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573572 S 6533 0 1 C2CD4C IS33455 dgv3502n71 19 333559 368396 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910096,nsv910095,nsv910104,nsv910090 M 6533 0 5 C2CD4C,SHC2 IS33239,IS34057,IS40396,MS10769,SP54988 nsv910094 19 335644 362849 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538894,nssv1599148 M 6533 1 1 C2CD4C IS41410,MS13803 dgv3503n71 19 335644 382187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910107,nsv910097,nsv910098,nsv910106,nsv910105,nsv910103 M 6533 0 10 C2CD4C,SHC2 IS32322,IS32737,IS33162,IS33601,IS37172,IS38293,IS39417,IS40799,MS10698,MS16315 dgv3504n71 19 335644 433221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910108,nsv910099 M 6533 0 2 C2CD4C,ODF3L2,SHC2 IS32888,IS33178 dgv3505n71 19 335644 503650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910101,nsv910113 M 6533 0 2 C19orf20,C2CD4C,CDC34,GZMM,MADCAM1,ODF3L2,SHC2 IS39233,MS10769 nsv910102 19 335644 614929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592840 S 6533 0 1 BSG,C19orf20,C2CD4C,CDC34,FGF22,GZMM,HCN2,MADCAM1,ODF3L2,POLRMT,RNF126,SHC2 IS39258 nsv817810 19 339413 369178 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417943 S 112 0 1 C2CD4C,SHC2 NA18853 nsv910109 19 341627 768708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586043 S 6533 0 1 BSG,C19orf20,C19orf21,C2CD4C,CDC34,FGF22,FSTL3,GZMM,HCN2,LPPR3,MADCAM1,MIR3187,MIR4745,ODF3L2,PALM,POLRMT,PRSS57,PTBP1,RNF126,SHC2 IS37646 nsv509712 19 342096 509643 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619741 S 4 1 0 C19orf20,C2CD4C,CDC34,GZMM,MADCAM1,ODF3L2,SHC2 NA10860 nsv512554 19 343234 346106 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625161 S 1 0 1 "" 1 esv2568150 19 344425 346811 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246311 S 1 0 1 "" NA18507 esv1928517 19 344543 345093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928812 S 1 0 1 "" NA18507 esv23072 19 344571 347416 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20426 S 451 0 3 "" NA12828,NA18916,NA19240 esv2155340 19 344939 346045 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579856 S 1 0 1 "" NA18507 esv7704 19 345113 345968 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30145 S 1 0 1 "" SJK esv1922167 19 349370 349776 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752633 S 1 0 1 "" NA18507 nsv137977 19 349537 349623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156555 M 24 "" nsv137957 19 349566 349623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156535 M 24 "" esv22759 19 350541 351931 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20507 S 451 4 2 "" NA12156,NA12287,NA18858,NA18861,NA19108,NA19190 nsv512555 19 350742 353198 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625162 S 1 0 1 "" 1 esv988751 19 350841 351639 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579221 S 3 0 1 "" HuRef nsv470101 19 352714 959504 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546413,nssv546414,nssv546405,nssv546406,nssv546412,nssv546408,nssv546411,nssv546410,nssv546407 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARID3A,AZU1,BSG,C19orf20,C19orf21,C19orf22,C2CD4C,CDC34,CFD,ELANE,FGF22,FSTL3,GRIN3B,GZMM,HCN2,KISS1R,LPPR3,MADCAM1,MED16,MIR3187,MIR4745,ODF3L2,PALM,POLRMT,PRSS57,PRTN3,PTBP1,RNF126,SHC2,WDR18 HGDP00288,HGDP00290,HGDP00298,HGDP00302,HGDP00315,HGDP00323,HGDP00326,HGDP00550,HGDP00556 esv26691 19 354998 356088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19128 S 451 0 27 "" NA07037,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12828,NA12878,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1421384 19 355930 356087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122922 S 2 0 1 "" HuRef nsv910112 19 357370 394434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538449 S 6533 0 1 C2CD4C,SHC2 MS13727 esv25203 19 361772 362352 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12288 S 451 3 11 "" NA06985,NA07045,NA11894,NA12044,NA12156,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18861,NA19190 esv1331526 19 362152 362300 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311297 S 2 0 1 "" HuRef esv2497793 19 373719 375211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390467 S 1 0 1 SHC2 NA18507 esv1994729 19 374008 374784 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814895 S 1 0 1 SHC2 NA18507 esv26032 19 374051 374676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11446 S 451 0 4 SHC2 NA12004,NA19099,NA19147,NA19240 esv3494 19 374094 374786 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25935 S 1 0 1 Single Asian sample YH SHC2 YH nsv828348 19 376481 377085 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435521 S 31 0 1 SHC2 NA18942 esv5410 19 378449 378972 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27851 S 1 0 1 Single Asian sample YH SHC2 YH esv25497 19 379811 385721 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16268,esv20655 M 451 3 1 SHC2 NA12828,NA18508,NA18517,NA19099 nsv2384 19 381805 395497 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4336 S 9 1 0 SHC2 NA12878 nsv820768 19 382221 385316 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420025 S 1 0 1 SHC2 NA10851 nsv433453 19 382359 403577 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463334 S 9 1 0 Samples from several populations that are part of the HapMap project. SHC2 NA19240 esv1627441 19 382939 384609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648393 S 2 0 1 SHC2 HuRef nsv514895 19 384555 384663 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627191 S 1414 0 0 SHC2 esv1499855 19 385576 385576 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743636 S 2 1 0 SHC2 HuRef esv2276998 19 394059 394559 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730101 S 1 0 1 SHC2 NA18507 dgv3506n71 19 394434 459626 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910114,nsv910128,nsv910122 M 6533 0 3 C19orf20,MADCAM1,ODF3L2,SHC2 IS31045,IS39417,SP54988 dgv3507n71 19 394434 503650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910118,nsv910125,nsv910124,nsv910115,nsv910123,nsv910116,nsv910129 M 6533 0 9 C19orf20,CDC34,GZMM,MADCAM1,ODF3L2,SHC2 IS32737,IS32841,IS33239,IS35968,IS37172,IS40230,IS40502,MS10698,MS16315 esv2323487 19 402049 402585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590376 S 1 0 1 SHC2 NA18507 esv4763 19 402066 402504 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27204 S 1 0 1 Single Asian sample YH SHC2 YH esv1557758 19 403381 403446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791367 S 2 0 1 SHC2 HuRef nsv138298 19 403564 403628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156876 M 24 SHC2 nsv910117 19 403577 476739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564434 S 6533 1 0 C19orf20,MADCAM1,ODF3L2,SHC2 IS30210 nsv910119 19 403577 555154 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551115 S 6533 1 0 BSG,C19orf20,CDC34,GZMM,HCN2,MADCAM1,ODF3L2,SHC2 MS18784 dgv3508n71 19 403577 817018 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910143,nsv910131,nsv910120,nsv910130 M 6533 0 4 AZU1,BSG,C19orf20,C19orf21,CDC34,CFD,ELANE,FGF22,FSTL3,GZMM,HCN2,LPPR3,MADCAM1,MIR3187,MIR4745,ODF3L2,PALM,POLRMT,PRSS57,PRTN3,PTBP1,RNF126,SHC2 IS32322,IS33455,IS35484,MS17208 dgv3509n71 19 405430 423980 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910121,nsv910126,nsv910127 M 6533 0 3 ODF3L2,SHC2 SP54043,SP54725,SP54956 esv2223344 19 407626 408064 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804212 S 1 0 1 SHC2 NA18507 esv28823 19 407734 408374 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14277 S 451 0 3 SHC2 NA11995,NA12044,NA12828 esv23197 19 408434 418277 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12477 S 451 1 0 ODF3L2,SHC2 NA12044 esv1002488 19 419807 419886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570312 S 3 0 1 ODF3L2 HuRef esv1405790 19 419834 419914 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339596 S 2 0 1 ODF3L2 HuRef nsv138338 19 420026 420026 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156916 M 24 ODF3L2 esv28250 19 421703 472323 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12873,esv13712,esv21188,esv10417,esv18199,esv18865 M 451 6 2 C19orf20,MADCAM1,ODF3L2 NA12044,NA12156,NA12414,NA18508,NA18858,NA19129,NA19225,NA19240 esv996354 19 424192 424316 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566513 S 3 0 1 ODF3L2 HuRef esv1453393 19 424216 424341 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838739 S 2 0 1 ODF3L2 HuRef nsv138206 19 424627 424876 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156784 M 24 ODF3L2 esv1506097 19 424906 424906 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780266 S 2 1 0 ODF3L2 HuRef esv33417 19 425104 469906 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93564,essv92516,essv96387 M 51 1 2 C19orf20,MADCAM1,ODF3L2 22128,22233,22371 esv1250211 19 430770 430770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269159 S 2 1 0 "" HuRef nsv516566 19 446722 476739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660354,nssv669213,nssv677303 M 2026 3 0 C19orf20,MADCAM1 nsv910132 19 450978 507632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530391 S 6533 0 1 C19orf20,CDC34,GZMM,MADCAM1 MS10311 dgv3510n71 19 452900 722860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910133,nsv910142,nsv910146,nsv910154,nsv910168,nsv910149,nsv910148,nsv910135 M 6533 0 14 BSG,C19orf20,C19orf21,CDC34,FGF22,FSTL3,GZMM,HCN2,MADCAM1,PALM,POLRMT,PRSS57,RNF126 IS30369,IS31656,IS32737,IS33178,IS33239,IS34005,IS37172,IS38538,IS39417,IS40396,IS41243,MS10698,MS16315,SP54956 nsv910134 19 459626 492685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508894 S 6533 0 1 C19orf20,CDC34 SP54725 dgv3511n71 19 469686 634221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910136,nsv910141,nsv910140 M 6533 0 3 BSG,C19orf20,CDC34,FGF22,FSTL3,GZMM,HCN2,POLRMT,RNF126 IS38176,MS13095,SP54988 esv1083686 19 475933 475933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190547 S 2 1 0 "" HuRef esv1041801 19 476005 476005 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071965 S 2 1 0 "" HuRef nsv138339 19 476015 476181 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156917 M 24 "" nsv910137 19 476739 532070 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567156 S 6533 0 1 BSG,CDC34,GZMM IS31045 dgv3512n71 19 476739 593217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910139,nsv910138 M 6533 0 3 BSG,CDC34,FGF22,GZMM,HCN2,POLRMT IS33776,IS34407,MS11579 dgv3513n71 19 476739 1065119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910209,nsv910144,nsv910210,nsv910151 M 6533 0 4 ABCA7,ARID3A,AZU1,BSG,C19orf21,C19orf22,C19orf6,CDC34,CFD,CNN2,ELANE,FGF22,FSTL3,GPX4,GRIN3B,GZMM,HCN2,HMHA1,KISS1R,LPPR3,MED16,MIR3187,MIR4745,PALM,POLR2E,POLRMT,PRSS57,PRTN3,PTBP1,RNF126,SBNO2,WDR18 IS32841,IS33601,MS10311,MS16153 esv1634833 19 485499 485499 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957349 S 2 1 0 CDC34 HuRef nsv828349 19 488759 489791 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435522 S 31 0 1 CDC34 NA18942 dgv3514n71 19 489531 614929 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910145,nsv910152,nsv910150,nsv910161 M 6533 4 0 BSG,CDC34,FGF22,GZMM,HCN2,POLRMT,RNF126 IS30953,IS33419,IS33759,IS36196 esv21617 19 491025 491783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21143 S 451 0 5 CDC34 NA12489,NA18508,NA19099,NA19147,NA19190 dgv3515n71 19 493672 642025 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910171,nsv910153,nsv910167,nsv910147,nsv910165,nsv910164,nsv910166 M 6533 0 12 BSG,FGF22,FSTL3,GZMM,HCN2,POLRMT,PRSS57,RNF126 IS33361,IS33630,IS34235,IS39233,IS39320,IS39453,IS40297,IS40502,MS11054,MS11306,MS13770,SP54043 esv1609139 19 501624 501624 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4123749 S 2 1 0 "" HuRef dgv3516n71 19 507632 908385 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910169,nsv910155 M 6533 0 2 ARID3A,AZU1,BSG,C19orf21,C19orf22,CFD,ELANE,FGF22,FSTL3,HCN2,KISS1R,LPPR3,MED16,MIR3187,MIR4745,PALM,POLRMT,PRSS57,PRTN3,PTBP1,RNF126 IS34304,MS10769 nsv821070 19 514941 517106 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420027 S 1 0 1 "" NA10851 esv26031 19 515001 520307 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21029,esv12954 M 451 14 9 "" NA06985,NA11931,NA12004,NA12006,NA12287,NA12414,NA15510,NA18517,NA18523,NA18858,NA18907,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv910156 19 516114 524487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511263 S 6533 0 1 BSG SP55019 dgv3517n71 19 516114 531154 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910157,nsv910158 M 6533 0 2 BSG SP54725,SP55021 dgv3518n71 19 516114 593217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910159,nsv910160 M 6533 0 5 BSG,FGF22,HCN2,POLRMT IS30197,IS30781,IS33504,IS37874,IS38840 dgv3519n71 19 516114 614929 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv910162,nsv910163,nsv910219 M 6533 4 7 BSG,FGF22,HCN2,POLRMT,RNF126 IS32888,IS33263,IS33514,IS33547,IS34310,IS35007,IS35968,IS37353,IS39046,MS11237,MS15835 esv2493943 19 516849 521157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278851 S 1 0 1 "" NA18507 nsv910170 19 522513 525927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508303 S 6533 0 1 BSG SP54684 nsv910172 19 523004 526674 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510546,nssv1508258 M 6533 1 1 BSG SP54650,SP54967 nsv910173 19 523004 531154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509379 S 6533 0 1 BSG SP54782 dgv3520n71 19 523004 536805 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910179,nsv910174 M 6533 2 0 BSG SP52077,SP54614 nsv910175 19 523004 544018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508056 S 6533 0 1 BSG,HCN2 SP54657 dgv3521n71 19 523293 539305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910180,nsv910176 M 6533 0 2 BSG SP51109,SP54967 nsv910177 19 526964 531154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499353 S 6533 0 1 BSG SP50159 dgv3522n71 19 526964 534744 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910178,nsv910181 M 6533 0 2 BSG SP55992,SP56886 dgv3523n71 19 529759 536805 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910182,nsv910184 M 6533 3 0 BSG SP50179,SP54620,SP56260 nsv910183 19 530100 533253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508811 S 6533 1 0 BSG SP54650 nsv910185 19 530351 531643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509591 S 6533 0 1 BSG SP54884 dgv3524n71 19 531268 533253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910192,nsv910189,nsv910186,nsv910191 M 6533 0 4 BSG SP50159,SP54782,SP55699,SP56846 nsv910187 19 531268 536805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516057 S 6533 0 1 BSG SP56385 nsv910188 19 531333 532944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507977 S 6533 1 0 BSG SP54726 dgv3525n71 19 531333 602852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910215,nsv910190,nsv910199 M 6533 0 3 BSG,FGF22,HCN2,POLRMT,RNF126 IS38058,SP54672,SP55021 nsv910193 19 531349 534268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502642 S 6533 0 1 BSG SP51307 dgv3526n71 19 531388 637574 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910221,nsv910204,nsv910194,nsv910201,nsv910200,nsv910212,nsv910203,nsv910205,nsv910202 M 6533 0 15 BSG,FGF22,FSTL3,HCN2,POLRMT,PRSS57,RNF126 IS32306,IS32803,IS32918,IS33248,IS33340,IS34057,IS39363,IS40449,IS40702,IS41410,MS10123,MS10386,MS17522,SP54593,SP54725 nsv910195 19 531575 539305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514726 S 6533 0 1 BSG SP56047 dgv3527n71 19 531575 580303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910196,nsv910198 M 6533 0 4 BSG,HCN2,POLRMT IS38388,IS38463,IS40799,SP54684 nsv910197 19 531793 533775 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515102 S 6533 1 0 BSG SP56120 dgv3528n71 19 532070 715389 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910223,nsv910207,nsv910206,nsv910208 M 6533 0 4 BSG,C19orf21,FGF22,FSTL3,HCN2,PALM,POLRMT,PRSS57,RNF126 IS33684,IS38144,IS40230,MS18276 nsv910211 19 533253 552532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512028 S 6533 0 1 BSG,HCN2 SP55264 dgv3529n71 19 534268 545599 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910213,nsv910214 M 6533 0 3 BSG,HCN2 SP54225,SP54577,SP54750 dgv3530n71 19 539860 616186 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910216,nsv910217,nsv910220,nsv910218 M 6533 7 0 FGF22,HCN2,POLRMT,RNF126 IS31763,IS33044,IS33493,IS33543,IS33651,IS34124,IS34912 dgv3531n71 19 539860 642025 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910237,nsv910222 M 6533 0 2 FGF22,FSTL3,HCN2,POLRMT,PRSS57,RNF126 IS40828,MS10871 nsv910224 19 539860 791984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599454 S 6533 0 1 AZU1,C19orf21,FGF22,FSTL3,HCN2,LPPR3,MIR3187,MIR4745,PALM,POLRMT,PRSS57,PTBP1,RNF126 IS41634 nsv828350 19 544831 553794 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435523 S 31 0 1 HCN2 NA18942 esv1739089 19 553971 553971 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098909 S 2 1 0 HCN2 HuRef dgv3532n71 19 555154 616186 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910230,nsv910225,nsv910226,nsv910229 M 6533 5 0 FGF22,HCN2,POLRMT,RNF126 IS33261,IS34055,IS35581,IS37996,IS38304 esv3037 19 556219 559487 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25478 S 1 0 1 Single Asian sample YH HCN2 YH dgv3533n71 19 556985 608666 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv910228,nsv910236 M 6533 2 3 FGF22,HCN2,POLRMT,RNF126 IS30210,IS32894,IS35633,MS11022,MS16213 dgv3534n71 19 556985 621828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910234,nsv910227,nsv910231,nsv910243,nsv910232 M 6533 0 7 FGF22,HCN2,POLRMT,RNF126 IS34908,IS36450,MS11726,MS15997,MS17825,SP54937,SP56223 nsv910233 19 561847 574729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511664,nssv1510596,nssv1506368 M 6533 0 3 HCN2,POLRMT SP54225,SP54979,SP55026 nsv910235 19 562373 596780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511264 S 6533 0 1 FGF22,HCN2,POLRMT SP55019 esv27631 19 564272 573246 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17953 S 451 1 0 HCN2,POLRMT NA12239 nsv910238 19 565967 579181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510548,nssv1512173,nssv1509103 M 6533 0 3 HCN2,POLRMT SP54750,SP54967,SP55318 dgv3535n71 19 565967 592215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910244,nsv910239 M 6533 0 2 FGF22,HCN2,POLRMT SP51109,SP53969 dgv3536n71 19 565967 612080 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910245,nsv910240,nsv910241 M 6533 6 0 FGF22,HCN2,POLRMT,RNF126 IS30406,IS30814,IS33240,IS33676,IS36183,IS38603 dgv3537n71 19 565967 715389 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910255,nsv910242,nsv910250 M 6533 0 3 C19orf21,FGF22,FSTL3,HCN2,PALM,POLRMT,PRSS57,RNF126 IS33504,IS33797,MS13727 nsv482205 19 568223 584568 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558566 S 1 1 0 POLRMT KB1 nsv828351 19 576291 582012 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421963 S 31 1 0 POLRMT NA18969 nsv910246 19 580303 608666 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593486,nssv1587532,nssv1573479,nssv1531883,nssv1568894,nssv1588677,nssv1573151 M 6533 5 2 FGF22,POLRMT,RNF126 IS31371,IS33243,IS33403,IS38063,IS38232,IS39418,MS10686 dgv3538n71 19 580303 614929 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910248,nsv910247 M 6533 8 0 FGF22,POLRMT,RNF126 IS32998,IS33406,IS35167,IS35833,IS36519,IS41433,IS41452,IS41524 dgv3539n71 19 580303 616186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910249,nsv910251 M 6533 0 2 FGF22,POLRMT,RNF126 MS14318,SP57469 nsv910252 19 587638 607701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508514 S 6533 0 1 FGF22,RNF126 SP54684 esv2176059 19 593044 593469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971636 S 1 0 1 FGF22 NA18507 nsv910253 19 593380 606608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509381 S 6533 0 1 FGF22,RNF126 SP54782 nsv910254 19 593380 616186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564331,nssv1598115 M 6533 0 2 FGF22,RNF126 IS30197,IS40819 esv990334 19 594103 594103 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579421 S 3 1 0 FGF22 HuRef esv1315871 19 594120 594120 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133638 S 2 1 0 FGF22 HuRef dgv3540n71 19 599173 633010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910256,nsv910257 M 6533 0 2 FSTL3,RNF126 SP55019,SP55021 dgv3541n71 19 616186 715389 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910261,nsv910258,nsv910259 M 6533 0 5 C19orf21,FSTL3,PALM,PRSS57 IS33776,IS34235,IS38176,IS39233,MS18848 nsv138027 19 618202 618263 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156605 M 24 "" nsv910260 19 633010 804666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592841 S 6533 0 1 AZU1,C19orf21,ELANE,FSTL3,LPPR3,MIR3187,MIR4745,PALM,PRSS57,PRTN3,PTBP1 IS39258 dgv3542n71 19 650532 704990 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910262,nsv910263 M 6533 0 2 C19orf21,PALM SP54988,SP55021 dgv3543n71 19 668664 715389 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910265,nsv910266,nsv910264 M 6533 0 4 C19orf21,PALM IS30197,IS33162,SP54043,SP54725 dgv3544n71 19 668664 759357 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910270,nsv910273,nsv910268,nsv910267,nsv910277 M 6533 5 0 C19orf21,MIR4745,PALM,PTBP1 MS18112,SP51058,SP51145,SP54217,SP56841 nsv910269 19 668664 768708 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550293,nssv1597353,nssv1520412 M 6533 2 1 C19orf21,LPPR3,MIR3187,MIR4745,PALM,PTBP1 IS40799,MS18392,SP50839 esv1111384 19 671441 671441 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208882 S 2 1 0 PALM HuRef dgv3545n71 19 677098 707179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910271,nsv910278,nsv910275 M 6533 0 8 C19orf21,PALM IS32918,IS33361,IS33665,IS41894,MS11306,MS17825,MS18276,MS19630 nsv910272 19 677098 715389 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535925,nssv1534763,nssv1581321,nssv1591489,nssv1578053,nssv1542317,nssv1587490,nssv1577328,nssv1566591,nssv1534177 M 6533 1 9 C19orf21,PALM IS30814,IS34407,IS34648,IS35566,IS38057,IS38846,MS11467,MS11726,MS12545,MS15749 dgv3546n71 19 677098 768708 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910281,nsv910274 M 6533 0 2 C19orf21,LPPR3,MIR3187,MIR4745,PALM,PTBP1 IS32888,IS41410 nsv458320 19 681235 703878 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535273 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C19orf21,PALM HGDP00604 nsv910276 19 681297 715389 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581023,nssv1573152 M 6533 2 0 C19orf21,PALM IS33243,IS35487 nsv910279 19 686867 715389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595663,nssv1596401 M 6533 0 2 C19orf21,PALM IS40297,IS40502 esv1010920 19 691650 698510 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563593 S 3 0 1 PALM HuRef nsv910280 19 692758 727648 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562572,nssv1550913 M 6533 2 0 C19orf21,PALM MS18652,MS25648 nsv520063 19 702553 703878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697202 S 2026 0 1 C19orf21 esv1005768 19 716233 716308 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573895 S 3 0 1 "" HuRef esv1269889 19 716249 716325 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838731 S 2 0 1 "" HuRef dgv3547n71 19 717103 774550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910282,nsv910288 M 6533 0 2 LPPR3,MIR3187,MIR4745,PTBP1 IS32306,IS40396 dgv3548n71 19 717103 791984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910287,nsv910283 M 6533 0 2 AZU1,LPPR3,MIR3187,MIR4745,PTBP1 IS30197,IS33797 dgv3549n71 19 717103 858673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910284,nsv910289,nsv910304 M 6533 0 4 AZU1,C19orf22,CFD,ELANE,LPPR3,MED16,MIR3187,MIR4745,PRTN3,PTBP1 IS33248,IS38538,MS13770,MS18276 dgv3550n71 19 717103 969318 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910286,nsv910285,nsv910308 M 6533 0 3 ARID3A,AZU1,C19orf22,C19orf6,CFD,ELANE,GRIN3B,KISS1R,LPPR3,MED16,MIR3187,MIR4745,PRTN3,PTBP1,WDR18 IS33504,IS34235,IS39417 nsv828353 19 726335 763296 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435524 S 31 0 1 MIR4745,PTBP1 NA18942 dgv3551n71 19 727648 925967 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910295,nsv910294,nsv910290,nsv910306,nsv910307,nsv910305 M 6533 0 7 ARID3A,AZU1,C19orf22,CFD,ELANE,KISS1R,LPPR3,MED16,MIR3187,MIR4745,PRTN3,PTBP1 IS30369,IS35484,IS39233,IS40297,IS40502,MS17825,SP54988 dgv3552n71 19 727648 1081986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910321,nsv910291,nsv910296,nsv910309 M 6533 0 4 ABCA7,ARID3A,AZU1,C19orf22,C19orf6,CFD,CNN2,ELANE,GPX4,GRIN3B,HMHA1,KISS1R,LPPR3,MED16,MIR3187,MIR4745,POLR2E,PRTN3,PTBP1,SBNO2,WDR18 IS33239,IS33684,IS38176,MS16315 nsv910292 19 727648 1658526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595439 S 6533 0 1 ABCA7,ADAMTSL5,APC2,ARID3A,ATP5D,AZU1,C19orf22,C19orf23,C19orf24,C19orf25,C19orf26,C19orf6,CFD,CIRBP,CNN2,DAZAP1,EFNA2,ELANE,GAMT,GPX4,GRIN3B,HMHA1,KISS1R,LPPR3,MBD3,MED16,MEX3D,MIDN,MIR3187,MIR4745,MUM1,NDUFS7,PCSK4,PLK5,POLR2E,PRTN3,PTBP1,REEP6,RPS15,SBNO2,STK11,TCF3,UQCR11,WDR18 IS40230 dgv3553n71 19 733854 780568 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910299,nsv910297,nsv910293,nsv910298,nsv910300 M 6533 0 10 AZU1,LPPR3,MIR3187,MIR4745,PTBP1 IS40449,SP54043,SP54657,SP54672,SP54684,SP54725,SP54967,SP55019,SP55021,SP81010 esv2012083 19 737454 737852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507818 S 1 0 1 "" NA18507 dgv3554n71 19 740890 799798 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910302,nsv910301,nsv910303,nsv910312 M 6533 0 4 AZU1,LPPR3,MIR3187,MIR4745,PRTN3,PTBP1 IS34407,IS41243,SP51109,SP54591 nsv910310 19 740890 1114934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510253 S 6533 0 1 ABCA7,ARID3A,AZU1,C19orf22,C19orf6,CFD,CNN2,ELANE,GPX4,GRIN3B,HMHA1,KISS1R,LPPR3,MED16,MIR3187,MIR4745,POLR2E,PRTN3,PTBP1,SBNO2,WDR18 SP54956 dgv3555n71 19 740890 1361493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910322,nsv910311 M 6533 0 2 ABCA7,ARID3A,ATP5D,AZU1,C19orf22,C19orf23,C19orf24,C19orf26,C19orf6,CFD,CIRBP,CNN2,DAZAP1,EFNA2,ELANE,GAMT,GPX4,GRIN3B,HMHA1,KISS1R,LPPR3,MED16,MIDN,MIR3187,MIR4745,MUM1,NDUFS7,POLR2E,PRTN3,PTBP1,SBNO2,STK11,WDR18 IS32737,IS37172 nsv828354 19 747933 766173 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434078 S 31 1 0 LPPR3,MIR3187,MIR4745,PTBP1 NA18526 nsv458321 19 748079 801574 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535274 S 1557 0 1 AZU1,LPPR3,MIR3187,MIR4745,PRTN3,PTBP1 1780862100_A dgv3556n71 19 750770 770997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910315,nsv910313,nsv910316 M 6533 0 6 LPPR3,MIR3187,MIR4745,PTBP1 SP54042,SP54593,SP54621,SP54776,SP54937,SP55056 dgv3557n71 19 755327 774550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910314,nsv910317 M 6533 0 2 LPPR3,MIR3187,MIR4745,PTBP1 SP54225,SP54750 dgv566n67 19 756448 765402 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828355,nsv828356 M 31 2 0 LPPR3,MIR3187,PTBP1 NA18969,NA18997 nsv910318 19 759586 782811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514727 S 6533 0 1 AZU1,LPPR3,MIR3187,PTBP1 SP56047 esv26343 19 762335 763583 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11232 S 451 1 0 LPPR3,PTBP1 NA12044 nsv828357 19 768381 774632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435525 S 31 0 1 LPPR3 NA18942 dgv3558n71 19 774550 908385 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910319,nsv910323 M 6533 0 2 ARID3A,AZU1,C19orf22,CFD,ELANE,KISS1R,MED16,PRTN3 IS34057,IS39363 nsv910320 19 780568 832413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570836 S 6533 0 1 AZU1,CFD,ELANE,MED16,PRTN3 IS32322 nsv513504 19 786396 786510 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625915 S 1 1 0 "" 1 esv1095211 19 786484 786484 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293781 S 2 1 0 "" HuRef esv1084418 19 786520 786520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312780 S 2 1 0 "" HuRef nsv138320 19 792457 792540 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156898 M 24 PRTN3 dgv3559n71 19 795020 861742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910328,nsv910327,nsv910333,nsv910324 M 6533 0 5 C19orf22,CFD,ELANE,MED16,PRTN3 IS32306,IS33340,IS40828,MS11726,MS19488 dgv3560n71 19 795020 1041803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910325,nsv910345 M 6533 0 2 ABCA7,ARID3A,C19orf22,C19orf6,CFD,CNN2,ELANE,GRIN3B,HMHA1,KISS1R,MED16,POLR2E,PRTN3,WDR18 IS32803,MS17522 dgv3561n71 19 801574 939261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910326,nsv910341,nsv910337,nsv910331 M 6533 0 4 ARID3A,C19orf22,CFD,ELANE,KISS1R,MED16,WDR18 IS37646,IS40396,MS10386,MS15835 nsv910329 19 804857 874744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587995 S 6533 0 1 C19orf22,CFD,ELANE,KISS1R,MED16 IS38144 dgv3562n71 19 804857 915434 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910339,nsv910336,nsv910340,nsv910330,nsv910335,nsv910344,nsv910346,nsv910342,nsv910334 M 6533 0 10 ARID3A,C19orf22,CFD,ELANE,KISS1R,MED16 IS32888,IS33361,IS41243,IS41410,MS10698,MS11054,MS15997,SP51109,SP54043,SP55021 nsv910332 19 807130 826389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507623 S 6533 0 1 CFD,ELANE,MED16 SP54684 nsv2385 19 809907 845070 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2204,nssv7422,nssv4337,nssv1429,nssv5717 M 9 5 0 CFD,MED16 NA12156,NA12878,NA18555,NA19129,NA19240 nsv910338 19 816406 908385 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546421,nssv1566592 M 6533 1 1 ARID3A,C19orf22,KISS1R,MED16 IS30814,MS17208 esv998260 19 817554 817706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576627 S 3 0 1 "" HuRef esv1426500 19 817657 817810 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008026 S 2 0 1 "" HuRef nsv910343 19 819115 855528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508631 S 6533 0 1 C19orf22,MED16 SP54725 nsv513505 19 822709 822867 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625916 S 1 1 0 MED16 1 esv1010169 19 822774 825006 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563954 S 3 1 0 MED16 HuRef esv2273959 19 823810 824281 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737671 S 1 0 1 MED16 NA18507 esv3473 19 824196 824428 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25914 S 1 0 1 Single Asian sample YH MED16 YH esv28908 19 828547 830982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21065 S 451 9 0 MED16 NA06985,NA12004,NA12828,NA18523,NA18861,NA19099,NA19108,NA19190,NA19225 nsv9662 19 844394 1268739 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21911,nssv24523,nssv27429,nssv25242,nssv28452,nssv22129,nssv24830,nssv26448 M 31 8 0 Samples from several populations that are part of the HapMap project. ABCA7,ARID3A,ATP5D,C19orf22,C19orf23,C19orf24,C19orf26,C19orf6,CIRBP,CNN2,EFNA2,GPX4,GRIN3B,HMHA1,KISS1R,MIDN,POLR2E,SBNO2,STK11,WDR18 NA10839,NA11830,NA12155,NA12872,NA18502,NA18563,NA18572,NA19221 nsv910347 19 850978 915434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597354 S 6533 0 1 ARID3A,C19orf22,KISS1R IS40799 dgv3563n71 19 861742 896013 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910350,nsv910348,nsv910349,nsv910353 M 6533 0 7 ARID3A,C19orf22,KISS1R SP54593,SP54657,SP54725,SP54937,SP54967,SP55019,SP81010 nsv910351 19 861742 925967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597106 S 6533 1 0 ARID3A,C19orf22,KISS1R IS40735 dgv3564n71 19 861742 980146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910352,nsv910357 M 6533 0 3 ARID3A,C19orf22,C19orf6,CNN2,GRIN3B,KISS1R,WDR18 IS30197,IS31282,IS39258 nsv482206 19 868342 872015 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558567 S 1 1 0 KISS1R KB1 nsv828358 19 871643 874371 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428734 S 31 1 0 KISS1R AK10 nsv828359 19 871792 874371 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435526 S 31 0 1 KISS1R NA18942 dgv3565n71 19 874744 969318 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910355,nsv910354,nsv910356 M 6533 0 3 ARID3A,C19orf6,GRIN3B,WDR18 IS38538,IS39233,MS10769 dgv3566n71 19 896013 1015193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910362,nsv910358 M 6533 0 2 ABCA7,ARID3A,C19orf6,CNN2,GRIN3B,WDR18 IS32322,IS33455 esv3453 19 900985 901507 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25894 S 1 0 1 Single Asian sample YH ARID3A YH esv1501734 19 901035 901151 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999162 S 2 0 1 ARID3A HuRef nsv469845 19 902640 1095485 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649866 M 265 0 16 Samples from several populations that are part of the HapMap project. ABCA7,ARID3A,C19orf6,CNN2,GPX4,GRIN3B,HMHA1,POLR2E,SBNO2,WDR18 essv258 19 902641 1095485 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABCA7,ARID3A,C19orf6,CNN2,GPX4,GRIN3B,HMHA1,POLR2E,SBNO2,WDR18 NA18948 nsv833704 19 902641 1095485 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454143,nssv1454142,nssv1454145,nssv1454144 M 95 4 0 ABCA7,ARID3A,C19orf6,CNN2,GPX4,GRIN3B,HMHA1,POLR2E,SBNO2,WDR18 dgv1055e1 19 902641 1495933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14884,esv107,essv3812 M 271 0 0 ABCA7,ADAMTSL5,APC2,ARID3A,ATP5D,C19orf23,C19orf24,C19orf25,C19orf26,C19orf6,CIRBP,CNN2,DAZAP1,EFNA2,GAMT,GPX4,GRIN3B,HMHA1,MIDN,MUM1,NDUFS7,PCSK4,PLK5,POLR2E,REEP6,RPS15,SBNO2,STK11,WDR18 NA18522,NA18943 nsv910359 19 911445 925967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509382 S 6533 0 1 ARID3A SP54782 nsv910361 19 915434 980146 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576567,nssv1595944 M 6533 1 1 ARID3A,C19orf6,CNN2,GRIN3B,WDR18 IS34124,IS40368 dgv3567n71 19 915434 985009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910360,nsv910364,nsv910363,nsv910365 M 6533 0 7 ARID3A,C19orf6,CNN2,GRIN3B,WDR18 IS30369,IS34005,MS10698,MS18276,SP54672,SP54988,SP55021 nsv138039 19 924126 929272 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156617 M 24 "" esv1415605 19 931005 931060 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119067 S 2 0 1 "" HuRef dgv3568n71 19 935578 989445 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910373,nsv910367,nsv910368,nsv910366 M 6533 0 4 C19orf6,CNN2,GRIN3B,WDR18 IS38144,MS11726,SP54043,SP54725 dgv3569n71 19 939261 1140482 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910390,nsv910369 M 6533 0 2 ABCA7,C19orf6,CNN2,GPX4,GRIN3B,HMHA1,POLR2E,SBNO2,WDR18 IS40828,MS17208 esv2145472 19 939817 940305 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700737 S 1 0 1 WDR18 NA18507 nsv138364 19 942561 942673 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156942 M 24 WDR18 nsv910370 19 943903 958353 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506690 S 6533 0 1 GRIN3B,WDR18 SP54393 dgv3570n71 19 943903 965188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910372,nsv910371 M 6533 0 2 C19orf6,GRIN3B,WDR18 SP54591,SP81010 dgv3571n71 19 947549 965188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910377,nsv910374 M 6533 0 2 C19orf6,GRIN3B SP53969,SP54776 dgv3572n71 19 947549 980146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910378,nsv910379,nsv910382,nsv910375 M 6533 0 5 C19orf6,CNN2,GRIN3B SP51109,SP54042,SP55019,SP55056,SP56223 nsv910376 19 950673 962215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509634 S 6533 0 1 C19orf6,GRIN3B SP54935 dgv3573n71 19 954172 965398 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910381,nsv910380 M 6533 0 4 C19orf6,GRIN3B SP54593,SP54684,SP54937,SP55992 nsv910383 19 954172 1002214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572433 S 6533 1 0 ABCA7,C19orf6,CNN2,GRIN3B IS33044 nsv910384 19 957768 1002751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532512 S 6533 0 1 ABCA7,C19orf6,CNN2,GRIN3B MS10769 dgv3574n71 19 957768 1058035 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910385,nsv910389 M 6533 0 3 ABCA7,C19orf6,CNN2,GPX4,GRIN3B,HMHA1,POLR2E IS39233,MS13770,MS18276 dgv3575n71 19 957768 1342059 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910393,nsv910396,nsv910399,nsv910408,nsv910391,nsv910400,nsv910386 M 6533 0 7 ABCA7,ATP5D,C19orf23,C19orf24,C19orf26,C19orf6,CIRBP,CNN2,EFNA2,GPX4,GRIN3B,HMHA1,MIDN,MUM1,NDUFS7,POLR2E,SBNO2,STK11 IS30369,IS33248,IS34235,IS39417,MS10698,MS16153,SP54988 nsv910387 19 961755 965398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510551 S 6533 0 1 C19orf6 SP54967 nsv910388 19 969318 1002214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590492 S 6533 1 0 ABCA7,C19orf6,CNN2 IS38515 nsv828360 19 971791 973008 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435527 S 31 0 1 C19orf6 NA18942 esv2586842 19 979533 981360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331823 S 1 0 1 CNN2 NA18507 esv2044506 19 979952 980675 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921581 S 1 0 1 CNN2 NA18507 esv25790 19 979965 980535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12981 S 451 0 13 CNN2 NA12044,NA12287,NA18505,NA18508,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19129,NA19190,NA19240 esv1006717 19 980035 980535 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586296 S 3 0 1 CNN2 HuRef nsv512556 19 983655 987242 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625163 S 1 0 1 CNN2 1 esv2492823 19 984537 986289 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366347 S 1 0 1 CNN2 NA18507 esv22453 19 984637 986297 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11905 S 451 0 4 CNN2 NA11993,NA11995,NA12414,NA12828 esv1680853 19 985075 985777 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113145 S 2 0 1 CNN2 HuRef nsv910392 19 989445 1021991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573329 S 6533 1 0 ABCA7,CNN2,HMHA1 IS33263 dgv3576n71 19 992352 1015193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910394,nsv910397 M 6533 0 2 ABCA7 IS40396,SP54430 dgv3577n71 19 992352 1026979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910398,nsv910395 M 6533 0 2 ABCA7,HMHA1 IS37646,IS39258 nsv910401 19 997520 1046061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575756 S 6533 0 1 ABCA7,HMHA1,POLR2E IS33797 nsv470102 19 997520 1103655 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546415 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA7,GPX4,HMHA1,POLR2E,SBNO2 HGDP00288 esv1005530 19 999199 1005414 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564802 S 3 1 0 ABCA7 HuRef esv26912 19 1000440 1001029 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21258 S 451 3 0 ABCA7 NA11995,NA19147,NA19240 esv1435034 19 1000472 1000521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352416 S 2 0 1 ABCA7 HuRef dgv3578n71 19 1009176 1039285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910403,nsv910402,nsv910405 M 6533 0 3 ABCA7,HMHA1,POLR2E SP54043,SP54672,SP54725 nsv910404 19 1010004 1026979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511566 S 6533 0 1 ABCA7,HMHA1 SP55021 dgv3579n71 19 1010004 1136924 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910406,nsv910407,nsv910410 M 6533 0 4 ABCA7,GPX4,HMHA1,POLR2E,SBNO2 IS37646,MS11054,MS16315,MS17522 nsv828361 19 1010115 1011275 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421986 S 31 1 0 ABCA7 NA18969 nsv910409 19 1015485 1026979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511665 S 6533 0 1 ABCA7,HMHA1 SP55026 nsv910411 19 1017738 1031189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509105,nssv1511269,nssv1507778 M 6533 0 3 HMHA1 SP54593,SP54750,SP55019 nsv828362 19 1027040 1028176 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435528 S 31 0 1 HMHA1 NA18942 nsv910412 19 1027063 1097100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532513 S 6533 0 1 GPX4,HMHA1,POLR2E,SBNO2 MS10769 nsv910413 19 1027063 1136924 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573330 S 6533 1 0 GPX4,HMHA1,POLR2E,SBNO2 IS33263 dgv3580n71 19 1027063 1487534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910414,nsv910431 M 6533 0 2 ADAMTSL5,APC2,ATP5D,C19orf23,C19orf24,C19orf25,C19orf26,CIRBP,DAZAP1,EFNA2,GAMT,GPX4,HMHA1,MIDN,MUM1,NDUFS7,PCSK4,PLK5,POLR2E,REEP6,RPS15,SBNO2,STK11 MS10386,MS18276 nsv470103 19 1037043 1276150 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546416,nssv546417,nssv546418 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,GPX4,HMHA1,MIDN,POLR2E,SBNO2,STK11 HGDP00553,HGDP00925,HGDP00938 nsv828366 19 1045446 1056728 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435529 S 31 0 1 GPX4,POLR2E NA18942 dgv3581n71 19 1046716 1121445 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910425,nsv910415 M 6533 0 2 GPX4,SBNO2 IS33162,MS10123 dgv3582n71 19 1046716 1140482 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910427,nsv910419,nsv910418,nsv910417,nsv910416,nsv910426 M 6533 0 20 GPX4,SBNO2 IS30197,IS30835,IS31082,IS32841,IS32918,IS33178,IS33239,IS33684,IS34005,IS35007,IS35484,IS38388,IS38463,IS39258,IS40297,IS40799,IS41243,MS13095,MS13770,MS15997 nsv910420 19 1046716 1290058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574144,nssv1589777 M 6533 0 2 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,GPX4,MIDN,SBNO2,STK11 IS33514,IS38403 dgv3583n71 19 1046716 1855612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910421,nsv910448,nsv910449 M 6533 0 3 ADAMTSL5,APC2,ATP5D,ATP8B3,C19orf23,C19orf24,C19orf25,C19orf26,CIRBP,DAZAP1,EFNA2,FAM108A1,GAMT,GPX4,KLF16,LOC100288123,MBD3,MEX3D,MIDN,MIR1909,MUM1,NDUFS7,ONECUT3,PCSK4,PLK5,REEP6,REXO1,RPS15,SBNO2,STK11,TCF3,UQCR11 IS32322,IS33504,IS33684 dgv3584n71 19 1050701 1067117 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910422,nsv910424,nsv910423 M 6533 0 3 GPX4,SBNO2 SP54043,SP54684,SP54937 nsv828367 19 1053093 1064816 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434079 S 31 1 0 GPX4,SBNO2 NA18526 nsv516646 19 1061829 1097100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657535,nssv669846,nssv672733,nssv693678,nssv680883,nssv685991,nssv670935,nssv655651,nssv673238,nssv677472,nssv685893,nssv680239,nssv687548,nssv673447,nssv658752 M 2026 0 15 SBNO2 dgv3585n71 19 1061829 1214299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910428,nsv910430 M 6533 0 2 ATP5D,C19orf26,MIDN,SBNO2,STK11 IS39233,MS10311 nsv910429 19 1067117 1097438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501368 S 6533 0 1 SBNO2 SP51109 nsv910432 19 1079191 1133415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508003 S 6533 0 1 SBNO2 SP54725 nsv2386 19 1083296 1118729 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6767,nssv2989,nssv5718,nssv10171 M 9 4 0 SBNO2 NA12156,NA18555,NA18956,NA19129 nsv526080 19 1083637 1103656 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702324 S 2026 0 1 SBNO2 esv27094 19 1088277 1089293 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19989 S 451 1 0 SBNO2 NA12156 esv2616658 19 1092897 1093342 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219405 S 1 1 0 SBNO2 NA18507 esv1210673 19 1093177 1093177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325097 S 2 1 0 SBNO2 HuRef esv29901 19 1099447 1100065 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18082 S 451 5 0 SBNO2 NA06985,NA11894,NA12004,NA12414,NA15510 esv1785958 19 1099719 1099978 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845434 S 2 0 1 SBNO2 HuRef nsv910433 19 1100046 1133415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508478 S 6533 0 1 SBNO2 SP54672 esv1002029 19 1107439 1113871 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563796 S 3 1 0 SBNO2 HuRef esv2640042 19 1111832 1117203 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342423 S 1 0 1 SBNO2 NA18507 esv1649795 19 1113222 1113222 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781040 S 2 1 0 SBNO2 HuRef esv2538063 19 1116636 1117465 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333725 S 1 1 0 SBNO2 NA18507 nsv138169 19 1116691 1116831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156747 M 24 SBNO2 esv1428489 19 1116977 1116977 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990069 S 2 1 0 SBNO2 HuRef dgv3586n71 19 1121445 1253265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910438,nsv910434 M 6533 0 2 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,MIDN,SBNO2,STK11 IS37646,SP54725 nsv470104 19 1121445 1276150 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546421,nssv546422,nssv546419 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,MIDN,SBNO2,STK11 HGDP00298,HGDP00556,HGDP00657 dgv3587n71 19 1136924 1309726 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910443,nsv910441,nsv910444,nsv910452,nsv910435,nsv910437,nsv910439,nsv910440,nsv910436 M 6533 0 12 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,MIDN,MUM1,STK11 IS32918,IS33797,IS34005,IS38058,IS39258,IS40449,MS10769,MS11237,MS15997,SP54043,SP54956,SP55021 esv1002673 19 1144898 1152785 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563877 S 3 0 1 "" HuRef nsv512557 19 1145515 1149826 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625164 S 1 0 1 "" 1 esv1030655 19 1146537 1148425 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297644 S 2 0 1 "" HuRef nsv910442 19 1158238 1290058 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573331,nssv1576460,nssv1598026,nssv1599206,nssv1548409,nssv1547700,nssv1533210,nssv1573575,nssv1596403,nssv1570647 M 6533 2 8 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,MIDN,STK11 IS32306,IS33263,IS33455,IS34057,IS40502,IS41243,IS41433,MS11054,MS17522,MS17825 dgv3588n71 19 1158238 1361493 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910445,nsv910446 M 6533 0 2 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,DAZAP1,EFNA2,GAMT,MIDN,MUM1,NDUFS7,STK11 IS38463,IS40396 dgv3589n71 19 1158238 1537274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910447,nsv910481,nsv910482 M 6533 0 3 ADAMTSL5,APC2,ATP5D,C19orf23,C19orf24,C19orf25,C19orf26,CIRBP,DAZAP1,EFNA2,GAMT,MBD3,MEX3D,MIDN,MUM1,NDUFS7,PCSK4,PLK5,REEP6,RPS15,STK11 IS32841,IS33601,MS13770 dgv3590n71 19 1159289 1208271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910450,nsv910453,nsv910455,nsv910456,nsv910457 M 6533 0 5 ATP5D,C19orf26,MIDN,STK11 SP54591,SP54935,SP54967,SP55019,SP55318 dgv3591n71 19 1159289 1238387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910464,nsv910463,nsv910451,nsv910458 M 6533 0 4 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,MIDN,STK11 SP54593,SP54750,SP54937,SP81010 dgv3592n71 19 1165408 1261872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910459,nsv910465,nsv910454 M 6533 0 3 ATP5D,C19orf23,C19orf24,C19orf26,CIRBP,EFNA2,MIDN,STK11 SP51109,SP54672,SP54684 dgv3593n71 19 1169723 1197368 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910462,nsv910461,nsv910460 M 6533 0 3 ATP5D,C19orf26,STK11 SP54225,SP54621,SP55257 nsv828368 19 1174050 1225099 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434080 S 31 1 0 ATP5D,C19orf23,C19orf26,CIRBP,MIDN,STK11 NA18526 nsv910466 19 1177004 1201109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511755 S 6533 0 1 ATP5D,C19orf26,MIDN,STK11 SP55056 dgv3594n71 19 1189899 1302916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910468,nsv910472,nsv910470,nsv910467 M 6533 0 6 ATP5D,C19orf23,C19orf24,CIRBP,EFNA2,MIDN IS30197,IS31082,IS33239,IS34304,IS38144,MS10311 nsv910469 19 1192594 1207998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511939 S 6533 0 1 ATP5D,MIDN SP55195 esv9337 19 1198070 1198368 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31778 S 1 0 1 "" SJK nsv828369 19 1199258 1210343 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422268 S 31 1 0 MIDN NA18997 esv24381 19 1200083 1202277 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21374 S 451 0 1 MIDN NA12489 nsv910471 19 1201109 1253265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507494 S 6533 0 1 C19orf23,C19orf24,CIRBP,EFNA2,MIDN SP54657 dgv3595n71 19 1201109 1371137 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910477,nsv910473,nsv910479,nsv910478 M 6533 0 4 C19orf23,C19orf24,CIRBP,DAZAP1,EFNA2,GAMT,MIDN,MUM1,NDUFS7 IS33178,IS34407,IS39233,MS13095 dgv3596n71 19 1201109 1476307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910480,nsv910474 M 6533 0 2 ADAMTSL5,APC2,C19orf23,C19orf24,C19orf25,CIRBP,DAZAP1,EFNA2,GAMT,MIDN,MUM1,NDUFS7,PCSK4,PLK5,REEP6,RPS15 IS35484,MS17208 nsv828370 19 1208077 1208607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432552 S 31 0 1 MIDN AK20 nsv828371 19 1208221 1225099 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435531 S 31 0 1 C19orf23,CIRBP,MIDN NA18942 nsv828372 19 1209446 1210343 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423853 S 31 1 0 MIDN NA18999 nsv910475 19 1214299 1241235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510553,nssv1511271 M 6533 0 2 C19orf23,C19orf24,CIRBP,EFNA2 SP54967,SP55019 nsv910476 19 1222274 1308082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586046 S 6533 0 1 C19orf24,CIRBP,EFNA2,MUM1 IS37646 esv990677 19 1229173 1229173 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580497 S 3 1 0 C19orf24 HuRef esv1779341 19 1229197 1229197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981566 S 2 1 0 C19orf24 HuRef nsv138017 19 1229240 1229240 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156595 M 24 C19orf24 dgv3597n71 19 1253265 1347462 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910485,nsv910484,nsv910483 M 6533 0 3 MUM1,NDUFS7 IS41634,MS11726,MS16153 esv32942 19 1271267 1950204 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101457,essv100994,essv95088,essv95120,essv94703,essv94429,essv95378,essv97304,essv101655,essv95841,essv94554,essv98974,essv92897,essv95945,essv93473,essv94864,essv94882,essv92605,essv96506,essv99346,essv99290,essv97629,essv100494 M 51 12 9 ADAMTSL5,ADAT3,APC2,ATP8B3,BTBD2,C19orf25,C19orf34,CSNK1G2,DAZAP1,FAM108A1,GAMT,KLF16,LOC100288123,MBD3,MEX3D,MIR1909,MUM1,NDUFS7,ONECUT3,PCSK4,PLK5,REEP6,REXO1,RPS15,SCAMP4,TCF3,UQCR11 21603,21693,21721,21791,21808,21872,21879,21909,21911,21932,21938,21939,22127,22128,22231,22233,22261,22275,22278,22298 dgv3598n71 19 1276150 1487534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910490,nsv910487,nsv910486 M 6533 0 3 ADAMTSL5,APC2,C19orf25,DAZAP1,GAMT,MUM1,NDUFS7,PCSK4,PLK5,REEP6,RPS15 IS37985,IS39417,MS10698 esv2430616 19 1278706 1279217 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331748 S 1 1 0 "" NA18507 esv1613163 19 1278959 1278959 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719729 S 2 1 0 "" HuRef nsv7304 19 1289603 1322592 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9332 S 9 0 0 MUM1 NA18517 nsv910488 19 1302916 1342809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585768 S 6533 0 1 MUM1,NDUFS7 IS37646 nsv910489 19 1302916 1361493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576461 S 6533 0 1 DAZAP1,GAMT,MUM1,NDUFS7 IS34057 nsv828373 19 1307448 1308480 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428735 S 31 1 0 MUM1 AK10 nsv910491 19 1319398 1463093 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584871,nssv1572374 M 6533 1 1 ADAMTSL5,APC2,C19orf25,DAZAP1,GAMT,MUM1,NDUFS7,PCSK4,REEP6,RPS15 IS32999,IS37172 nsv138487 19 1319821 1319906 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157065 M 24 MUM1 nsv910492 19 1321526 1426391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530934 S 6533 0 1 APC2,C19orf25,DAZAP1,GAMT,MUM1,NDUFS7,RPS15 MS10311 dgv3599n71 19 1323441 1497180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910498,nsv910497,nsv910493,nsv910496,nsv910495,nsv910501 M 6533 0 7 ADAMTSL5,APC2,C19orf25,DAZAP1,GAMT,MUM1,NDUFS7,PCSK4,PLK5,REEP6,RPS15 IS33797,IS34235,IS37646,IS41243,MS10769,SP54725,SP54988 esv1153316 19 1326583 1326583 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886977 S 2 1 0 MUM1 HuRef nsv910494 19 1328173 1371137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510255 S 6533 0 1 DAZAP1,GAMT,MUM1,NDUFS7 SP54956 essv18235 19 1331124 1495933 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ADAMTSL5,APC2,C19orf25,DAZAP1,GAMT,NDUFS7,PCSK4,PLK5,REEP6,RPS15 NA12057 nsv833705 19 1331124 1495933 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454148,nssv1454153,nssv1454158,nssv1454149,nssv1454152,nssv1454154,nssv1454150,nssv1454157,nssv1454156,nssv1454155,nssv1454159,nssv1454160,nssv1454147,nssv1454151,nssv1454146,nssv1454161,nssv1454163,nssv1454162 M 95 0 18 ADAMTSL5,APC2,C19orf25,DAZAP1,GAMT,NDUFS7,PCSK4,PLK5,REEP6,RPS15 nsv482207 19 1334883 1346588 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558568 S 1 1 0 NDUFS7 KB1 nsv910499 19 1342809 2211361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543772 S 6533 0 1 ADAMTSL5,ADAT3,AMH,AP3D1,APC2,ATP8B3,BTBD2,C19orf25,C19orf34,CSNK1G2,DAZAP1,DOT1L,FAM108A1,GAMT,IZUMO4,JSRP1,KLF16,LOC100288123,MBD3,MEX3D,MIR1227,MIR1909,MIR4321,MKNK2,MOBKL2A,NDUFS7,ONECUT3,PCSK4,PLEKHJ1,PLK5,REEP6,REXO1,RPS15,SCAMP4,SF3A2,TCF3,UQCR11 MS16153 nsv910500 19 1344763 1361351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506103 S 6533 0 1 DAZAP1,GAMT,NDUFS7 SP54043 nsv9663 19 1351723 1354361 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24055,nssv24855,nssv24740 M 31 3 0 Samples from several populations that are part of the HapMap project. GAMT NA10839,NA18564,NA18975 nsv828374 19 1368012 1379750 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421997 S 31 1 0 DAZAP1 NA18969 nsv828375 19 1369725 1379859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435532 S 31 0 1 DAZAP1 NA18942 dgv3600n71 19 1371289 1487534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910504,nsv910502,nsv910503 M 6533 0 5 ADAMTSL5,APC2,C19orf25,DAZAP1,PCSK4,PLK5,REEP6,RPS15 IS34057,IS34458,IS40828,MS15997,MS16315 dgv3601n71 19 1371289 1537274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910511,nsv910513,nsv910512,nsv910505 M 6533 0 6 ADAMTSL5,APC2,C19orf25,DAZAP1,MBD3,MEX3D,PCSK4,PLK5,REEP6,RPS15 IS30764,IS31563,IS33455,IS38057,IS41634,MS11726 dgv3602n71 19 1371289 1579388 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910506,nsv910514 M 6533 0 4 ADAMTSL5,APC2,C19orf25,DAZAP1,MBD3,MEX3D,PCSK4,PLK5,REEP6,RPS15,TCF3,UQCR11 IS30369,IS32737,IS33514,IS39258 nsv910507 19 1374688 1454964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510554 S 6533 0 1 APC2,C19orf25,DAZAP1,PCSK4,REEP6,RPS15 SP54967 dgv3603n71 19 1378368 1667865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910508,nsv910515 M 6533 0 2 ADAMTSL5,APC2,C19orf25,DAZAP1,MBD3,MEX3D,PCSK4,PLK5,REEP6,RPS15,TCF3,UQCR11 IS38176,SP54956 nsv828377 19 1386064 1390351 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435533 S 31 0 1 DAZAP1,RPS15 NA18942 nsv817811 19 1395419 1426391 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417241 S 112 0 1 APC2,C19orf25 NA18577 nsv470105 19 1395419 1477613 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546423 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTSL5,APC2,C19orf25,PCSK4,PLK5,REEP6 HGDP00930 dgv3604n71 19 1399180 1497180 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv910509,nsv910510 M 6533 2 5 ADAMTSL5,APC2,C19orf25,PCSK4,PLK5,REEP6 IS32803,IS33403,IS33630,IS33665,IS40297,IS40646,MS11237 dgv3605n71 19 1405969 1441703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910516,nsv910518,nsv910519 M 6533 0 3 APC2,C19orf25,PCSK4 SP54043,SP55019,SP55021 nsv910517 19 1405969 1454964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508297 S 6533 0 1 APC2,C19orf25,PCSK4,REEP6 SP54672 esv25963 19 1416058 1421715 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10365 S 451 0 1 APC2 NA12489 nsv470106 19 1426391 1501650 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546424,nssv546427,nssv546426,nssv546425 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTSL5,C19orf25,PCSK4,PLK5,REEP6 HGDP00550,HGDP00654,HGDP00789,HGDP00951 nsv910520 19 1432481 1454964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509030 S 6533 0 1 PCSK4,REEP6 SP54593 nsv910521 19 1447384 1480423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508246 S 6533 0 1 ADAMTSL5,PLK5,REEP6 SP54684 dgv3606n71 19 1455618 1480423 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910523,nsv910522 M 6533 0 2 ADAMTSL5,PLK5 SP54043,SP55019 dgv3607n71 19 1456874 1601134 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910531,nsv910526,nsv910524,nsv910525 M 6533 0 5 ADAMTSL5,MBD3,MEX3D,PLK5,TCF3,UQCR11 IS31656,IS33178,IS37646,IS39363,MS13095 dgv3608n71 19 1463093 1686218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910535,nsv910533,nsv910536,nsv910528,nsv910534,nsv910527 M 6533 0 6 ADAMTSL5,MBD3,MEX3D,PLK5,TCF3,UQCR11 IS32888,IS34235,IS34304,MS10123,MS10769,MS17208 dgv3609n71 19 1463093 1983148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910529,nsv910530 M 6533 0 2 ADAMTSL5,ADAT3,ATP8B3,BTBD2,C19orf34,CSNK1G2,FAM108A1,KLF16,LOC100288123,MBD3,MEX3D,MIR1909,ONECUT3,PLK5,REXO1,SCAMP4,TCF3,UQCR11 IS39233,MS10311 nsv458324 19 1476307 1501650 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535275 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLK5 HGDP00654 esv1284037 19 1479524 1479677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198333 S 2 0 1 PLK5 HuRef dgv197n21 19 1487534 1491506 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526214,nsv520030 M 2026 0 2 "" nsv138241 19 1494371 1496308 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156819 M 24 "" nsv910532 19 1497211 1530465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514728 S 6533 0 1 MBD3,MEX3D SP56047 nsv517758 19 1501650 1523369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673051,nssv653140,nssv683128 M 2026 0 3 MEX3D dgv3610n71 19 1501872 1561809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910539,nsv910537,nsv910538 M 6533 0 3 MBD3,MEX3D,TCF3,UQCR11 SP54672,SP54725,SP55021 nsv910540 19 1501872 1579388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511017 S 6533 0 1 MBD3,MEX3D,TCF3,UQCR11 SP54988 esv23826 19 1517424 1519402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10883 S 451 0 1 MEX3D NA12489 nsv828378 19 1530133 1531226 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422008 S 31 1 0 MBD3 NA18969 dgv3611n71 19 1540064 1667865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910541,nsv910542 M 6533 0 2 MBD3,TCF3,UQCR11 IS33239,IS41243 nsv828379 19 1561816 1562354 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422269 S 31 1 0 TCF3 NA18997 esv28953 19 1578764 1580149 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12950 S 451 31 0 TCF3 NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv138347 19 1578783 1578957 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156925 M 24 TCF3 nsv828380 19 1584433 1591145 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422019 S 31 1 0 TCF3 NA18969 nsv910543 19 1589919 1619161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511570 S 6533 0 1 TCF3 SP55021 dgv3612n71 19 1593507 2060157 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910546,nsv910544 M 6533 0 2 ADAT3,AP3D1,ATP8B3,BTBD2,C19orf34,CSNK1G2,FAM108A1,IZUMO4,KLF16,LOC100288123,MIR1909,MKNK2,MOBKL2A,ONECUT3,REXO1,SCAMP4,TCF3 IS37646,SP54956 nsv527350 19 1635137 1646176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703777 S 2026 0 1 "" nsv910545 19 1635137 1875653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546989 S 6533 0 1 ADAT3,ATP8B3,FAM108A1,KLF16,LOC100288123,MIR1909,ONECUT3,REXO1,SCAMP4 MS17208 esv990088 19 1635980 1643323 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564866 S 3 0 1 "" HuRef nsv2388 19 1658798 1692437 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2990 S 9 1 0 "" NA18555 dgv3613n71 19 1694329 1972909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910561,nsv910555,nsv910547,nsv910562,nsv910551,nsv910548 M 6533 0 8 ADAT3,ATP8B3,BTBD2,C19orf34,CSNK1G2,FAM108A1,KLF16,LOC100288123,MIR1909,ONECUT3,REXO1,SCAMP4 IS32841,IS33178,IS33601,IS33776,IS34235,IS41243,MS16315,MS18276 dgv3614n71 19 1696610 2297730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910556,nsv910549 M 6533 0 2 ADAT3,AMH,AP3D1,ATP8B3,BTBD2,C19orf34,C19orf35,CSNK1G2,DOT1L,FAM108A1,IZUMO4,JSRP1,KLF16,LINGO3,LOC100288123,LSM7,MIR1227,MIR1909,MIR4321,MKNK2,MOBKL2A,OAZ1,ONECUT3,PLEKHJ1,REXO1,SCAMP4,SF3A2,SPPL2B IS33504,IS40230 esv7507 19 1720000 1720087 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29948 S 1 1 0 ONECUT3 SJK nsv910550 19 1724999 1798698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573577 S 6533 0 1 ATP8B3,LOC100288123,MIR1909,ONECUT3,REXO1 IS33455 nsv521005 19 1733798 1735944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679662,nssv680321,nssv686001,nssv684618 M 2026 0 4 ATP8B3 nsv470107 19 1733798 2051346 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546429,nssv546436,nssv546435,nssv546430,nssv546433,nssv546432,nssv546428,nssv546434 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAT3,ATP8B3,BTBD2,C19orf34,CSNK1G2,FAM108A1,IZUMO4,KLF16,LOC100288123,MIR1909,MKNK2,MOBKL2A,REXO1,SCAMP4 HGDP00298,HGDP00313,HGDP00315,HGDP00330,HGDP00657,HGDP00789,HGDP01397 dgv3615n71 19 1735944 1831343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910557,nsv910563,nsv910552 M 6533 0 3 ATP8B3,FAM108A1,KLF16,LOC100288123,MIR1909,REXO1 IS37985,MS10123,MS10698 dgv3616n71 19 1735944 1876942 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910560,nsv910558,nsv910559,nsv910565,nsv910564,nsv910554,nsv910553 M 6533 0 9 ADAT3,ATP8B3,FAM108A1,KLF16,LOC100288123,MIR1909,REXO1,SCAMP4 IS32322,IS32737,IS33248,IS34304,IS35484,IS38538,IS41634,MS13770,MS17522 nsv910566 19 1759863 1861106 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573153,nssv1584872 M 6533 1 1 ADAT3,ATP8B3,FAM108A1,KLF16,LOC100288123,MIR1909,REXO1,SCAMP4 IS33243,IS37172 dgv3617n71 19 1759863 1868925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910567,nsv910568,nsv910573,nsv910572,nsv910571,nsv910570 M 6533 0 7 ADAT3,ATP8B3,FAM108A1,KLF16,LOC100288123,MIR1909,REXO1,SCAMP4 IS30369,IS33475,IS34057,MS18848,SP53196,SP54988,SP55021 nsv910569 19 1762130 1940480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532517 S 6533 0 1 ADAT3,ATP8B3,BTBD2,C19orf34,CSNK1G2,FAM108A1,KLF16,LOC100288123,MIR1909,REXO1,SCAMP4 MS10769 dgv567n67 19 1765819 1767717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828382,nsv828383,nsv828381 M 31 3 0 MIR1909,REXO1 AK12,AK14,NA18969 nsv828384 19 1766594 1767285 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422270 S 31 1 0 MIR1909,REXO1 NA18997 nsv520344 19 1779948 1784338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697360 S 2026 0 1 REXO1 dgv3618n71 19 1784338 1875653 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910580,nsv910578,nsv910582,nsv910574 M 6533 0 4 ADAT3,FAM108A1,KLF16,REXO1,SCAMP4 IS33340,IS38144,IS40502,SP54725 dgv3619n71 19 1790483 1818912 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910583,nsv910575 M 6533 0 2 KLF16,REXO1 SP54591,SP54750 dgv3620n71 19 1790483 1844464 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910577,nsv910576,nsv910581,nsv910585,nsv910584 M 6533 0 5 FAM108A1,KLF16,REXO1 SP51109,SP54593,SP56047,SP57469,SP81010 nsv910579 19 1790483 1871342 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574464 S 6533 1 0 ADAT3,FAM108A1,KLF16,REXO1,SCAMP4 IS33575 nsv910586 19 1807186 1833762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510555 S 6533 0 1 FAM108A1,KLF16 SP54967 nsv910587 19 1810390 1940480 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574911,nssv1573332 M 6533 1 1 ADAT3,BTBD2,C19orf34,CSNK1G2,FAM108A1,KLF16,SCAMP4 IS33263,IS33665 esv2646506 19 1813394 1815394 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354842 S 1 0 1 KLF16 NA18507 esv25510 19 1813845 1816249 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10777 S 451 0 1 KLF16 NA12489 nsv828385 19 1824482 1826117 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435534 S 31 0 1 "" NA18942 nsv910588 19 1825988 1948729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574146 S 6533 0 1 ADAT3,BTBD2,C19orf34,CSNK1G2,FAM108A1,SCAMP4 IS33514 nsv482208 19 1827975 1836518 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558569 S 1 1 0 FAM108A1 KB1 nsv518629 19 1855612 1861106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696079 S 2026 0 1 ADAT3,SCAMP4 nsv910589 19 1873599 1940480 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546423,nssv1572050 M 6533 1 1 BTBD2,C19orf34,CSNK1G2,SCAMP4 IS32843,MS17208 dgv3621n71 19 1873599 1972909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910590,nsv910591,nsv910592 M 6533 0 3 BTBD2,C19orf34,CSNK1G2,SCAMP4 IS30837,IS32737,IS33239 esv2571215 19 1873943 1874920 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393126 S 1 1 0 SCAMP4 NA18507 nsv910593 19 1899701 2024354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530393 S 6533 0 1 BTBD2,C19orf34,CSNK1G2,MKNK2,MOBKL2A MS10311 dgv568n67 19 1900977 1902786 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828386,nsv828390,nsv828389 M 31 13 0 CSNK1G2 AK14,AK2,AK6,AK8,NA18526,NA18564,NA18570,NA18582,NA18947,NA18951,NA18968,NA18973,NA18997 nsv820901 19 1900977 1902786 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420028 S 1 0 1 CSNK1G2 NA10851 nsv828388 19 1901283 1901965 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431733 S 31 1 0 CSNK1G2 AK18 esv26747 19 1901483 1902640 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12847 S 451 6 1 CSNK1G2 NA11995,NA12239,NA12414,NA18858,NA18909,NA18916,NA19129 esv989730 19 1910617 1910730 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579147 S 3 0 1 CSNK1G2 HuRef esv1678175 19 1910739 1910853 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891016 S 2 0 1 CSNK1G2 HuRef esv1623717 19 1918792 1918914 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973970 S 2 0 1 CSNK1G2 HuRef nsv910594 19 1918992 1937455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511572 S 6533 0 1 BTBD2,CSNK1G2 SP55021 dgv3622n71 19 1918992 2320415 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910595,nsv910608,nsv910607 M 6533 0 3 AMH,AP3D1,BTBD2,C19orf35,CSNK1G2,DOT1L,IZUMO4,JSRP1,LINGO3,LSM7,MIR1227,MIR4321,MKNK2,MOBKL2A,OAZ1,PLEKHJ1,SF3A2,SPPL2B IS32841,IS33684,MS17208 nsv138132 19 1919250 1919250 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156710 M 24 CSNK1G2 dgv3623n71 19 1923214 1948363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910597,nsv910596 M 6533 0 2 BTBD2,CSNK1G2 SP54988,SP55019 nsv910598 19 1932999 1948363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519364 S 6533 0 1 BTBD2 SP81010 nsv910599 19 1938386 1948363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510556 S 6533 0 1 BTBD2 SP54967 nsv910600 19 1965037 2024354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589778 S 6533 0 1 BTBD2,MKNK2,MOBKL2A IS38403 dgv3624n71 19 1965037 2054962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910601,nsv910604,nsv910602,nsv910611,nsv910603,nsv910610 M 6533 0 10 AP3D1,BTBD2,IZUMO4,MKNK2,MOBKL2A IS30781,IS31142,IS31282,IS32737,IS34407,IS38388,IS41634,MS11054,MS11237,MS11726 esv27612 19 1965069 1966499 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15602 S 451 1 0 BTBD2 NA12044 esv1200367 19 1976055 1976055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153815 S 2 1 0 "" HuRef dgv3625n71 19 1979985 2091009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910605,nsv910617,nsv910612,nsv910621,nsv910618 M 6533 0 13 AP3D1,IZUMO4,MKNK2,MOBKL2A IS31082,IS32322,IS33239,IS33669,IS33776,IS35007,IS37985,IS39258,IS40799,MS13095,MS13770,MS16315,MS18276 dgv3626n71 19 1979985 2211361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910622,nsv910606,nsv910620 M 6533 0 3 AMH,AP3D1,DOT1L,IZUMO4,JSRP1,MIR1227,MIR4321,MKNK2,MOBKL2A,PLEKHJ1,SF3A2 IS37172,IS38293,IS39233 dgv3627n71 19 1983148 2048832 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv910616,nsv910609 M 6533 2 3 IZUMO4,MKNK2,MOBKL2A IS33403,IS34523,IS34895,IS38057,IS38176 nsv910613 19 1985151 2001823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514730 S 6533 0 1 MKNK2 SP56047 dgv3628n71 19 1989137 2022080 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910615,nsv910614 M 6533 0 2 MKNK2,MOBKL2A SP54988,SP55021 esv271907 19 1992867 1992952 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518132 S 157 1 0 Samples from several populations that are part of the HapMap project. MKNK2 NA12872 nsv458325 19 1994271 2029488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535276 S 1557 0 1 MKNK2,MOBKL2A 1780862229_A nsv910619 19 2008907 2054962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564337 S 6533 0 1 AP3D1,IZUMO4,MOBKL2A IS30197 nsv910623 19 2015619 2416737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530936 S 6533 0 1 AMH,AP3D1,C19orf35,DOT1L,IZUMO4,JSRP1,LINGO3,LMNB2,LSM7,MIR1227,MIR4321,MOBKL2A,OAZ1,PLEKHJ1,SF3A2,SPPL2B,TIMM13,TMPRSS9 MS10311 nsv828391 19 2017054 2019665 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422041 S 31 1 0 "" NA18969 nsv910624 19 2024466 2091009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573333 S 6533 1 0 AP3D1,IZUMO4,MOBKL2A IS33263 nsv910625 19 2029488 2091009 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532518 S 6533 0 1 AP3D1,IZUMO4,MOBKL2A MS10769 esv26236 19 2036035 2041634 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13362 S 451 1 0 MOBKL2A NA19147 nsv910626 19 2040230 2127586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511021 S 6533 0 1 AP3D1,DOT1L,IZUMO4,MOBKL2A SP54988 dgv3629n71 19 2049015 2232273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910627,nsv910628 M 6533 0 2 AMH,AP3D1,C19orf35,DOT1L,IZUMO4,JSRP1,MIR1227,MIR4321,OAZ1,PLEKHJ1,SF3A2 IS33601,IS35484 nsv523590 19 2054962 2060157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699380 S 2026 0 1 AP3D1 dgv3630n71 19 2060157 2311854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910630,nsv910629 M 6533 0 3 AMH,AP3D1,C19orf35,DOT1L,JSRP1,LINGO3,LSM7,MIR1227,MIR4321,OAZ1,PLEKHJ1,SF3A2,SPPL2B IS34235,IS37646,IS41410 nsv910631 19 2074516 2127586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511574 S 6533 0 1 AP3D1,DOT1L SP55021 nsv828392 19 2076165 2076867 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435535 S 31 0 1 AP3D1 NA18942 esv23222 19 2079443 2080063 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9797 S 451 1 3 AP3D1 NA12006,NA12156,NA12287,NA18909 esv1666079 19 2079510 2079588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213146 S 2 0 1 AP3D1 HuRef nsv833706 19 2082210 2200763 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454176,nssv1454168,nssv1454170,nssv1454172,nssv1454174,nssv1454173,nssv1454177,nssv1454175,nssv1454178,nssv1454171,nssv1454169,nssv1454167,nssv1454166,nssv1454164,nssv1454165 M 95 0 15 AMH,AP3D1,DOT1L,MIR1227,PLEKHJ1,SF3A2 esv1514310 19 2082615 2082672 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217593 S 2 0 1 AP3D1 HuRef esv996177 19 2082658 2082714 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567599 S 3 0 1 AP3D1 HuRef esv1492561 19 2104899 2105006 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883030 S 2 0 1 "" HuRef nsv470108 19 2127586 2175387 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546437 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOT1L HGDP00789 dgv3631n71 19 2135005 2298405 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910632,nsv910633,nsv910634,nsv910635 M 6533 0 5 AMH,C19orf35,DOT1L,JSRP1,LINGO3,LSM7,MIR1227,MIR4321,OAZ1,PLEKHJ1,SF3A2,SPPL2B IS33239,IS39363,MS10698,MS10769,MS16315 nsv833707 19 2138091 2323221 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454183,nssv1454179,nssv1454181,nssv1454180,nssv1454182,nssv1454187,nssv1454195,nssv1454184,nssv1454186,nssv1454185,nssv1454191,nssv1454189,nssv1454194,nssv1454190,nssv1454188,nssv1454193,nssv1454192 M 95 0 17 AMH,C19orf35,DOT1L,JSRP1,LINGO3,LSM7,MIR1227,MIR4321,OAZ1,PLEKHJ1,SF3A2,SPPL2B nsv2389 19 2157861 2191688 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2991 S 9 1 0 DOT1L,MIR1227,PLEKHJ1,SF3A2 NA18555 nsv828393 19 2176161 2176607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435536 S 31 0 1 DOT1L NA18942 nsv828394 19 2176161 2181915 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437849 S 31 1 0 DOT1L NA18949 nsv910636 19 2177772 2234384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510258 S 6533 0 1 AMH,C19orf35,DOT1L,JSRP1,MIR1227,MIR4321,OAZ1,PLEKHJ1,SF3A2 SP54956 nsv828395 19 2179706 2181739 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435537 S 31 0 1 DOT1L NA18942 dgv3632n71 19 2183313 2206336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910637,nsv910638 M 6533 0 2 AMH,DOT1L,JSRP1,MIR1227,MIR4321,PLEKHJ1,SF3A2 SP54725,SP54988 dgv3633n71 19 2185013 2277215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910639,nsv910640 M 6533 0 2 AMH,C19orf35,JSRP1,LINGO3,LSM7,MIR1227,MIR4321,OAZ1,PLEKHJ1,SF3A2 IS33797,SP51109 nsv828396 19 2188438 2194104 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435538 S 31 0 1 SF3A2 NA18942 dgv3634n71 19 2192052 2204590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910642,nsv910641 M 6533 0 2 AMH,JSRP1,MIR4321,SF3A2 SP54684,SP54782 esv1711865 19 2198152 2198152 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745350 S 2 1 0 SF3A2 HuRef nsv910643 19 2200477 2311854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573959 S 6533 0 1 AMH,C19orf35,JSRP1,LINGO3,LSM7,MIR4321,OAZ1,SPPL2B IS33504 dgv3635n71 19 2211361 2311854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910649,nsv910645,nsv910644,nsv910648,nsv910647 M 6533 0 6 C19orf35,LINGO3,LSM7,OAZ1,SPPL2B IS32737,IS34304,IS37172,IS39233,SP54725,SP54988 nsv910646 19 2222741 2231988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511575 S 6533 0 1 C19orf35,OAZ1 SP55021 esv991767 19 2255621 2267029 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564118 S 3 0 0 LINGO3 HuRef nsv910650 19 2257575 2347243 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590493 S 6533 1 0 LINGO3,LSM7,SPPL2B,TMPRSS9 IS38515 nsv910651 19 2264800 2311854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572830 S 6533 0 1 LSM7,SPPL2B IS33178 nsv910652 19 2282181 2307475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510259 S 6533 0 1 SPPL2B SP54956 esv22825 19 2296270 2302210 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20525 S 451 0 1 SPPL2B NA07037 esv987545 19 2298191 2298597 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583849 S 3 0 1 SPPL2B HuRef esv2385804 19 2298419 2299051 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569669 S 1 0 1 SPPL2B NA18507 esv1110117 19 2298800 2298884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754256 S 2 0 1 SPPL2B HuRef esv1566250 19 2298899 2299175 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122826 S 2 0 1 SPPL2B HuRef esv1603035 19 2300432 2300432 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924785 S 2 1 0 SPPL2B HuRef esv1114382 19 2300512 2300512 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348424 S 2 1 0 SPPL2B HuRef esv2534504 19 2300651 2300830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248712 S 1 0 1 SPPL2B NA18507 esv21530 19 2311559 2314189 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11508 S 451 0 1 "" NA12414 nsv513507 19 2328438 2328664 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625919 S 1 1 0 "" 1 esv1610799 19 2334651 2334651 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991798 S 2 1 0 "" HuRef esv272241 19 2340710 2346428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581285 S 7 1 0 Samples from several populations that are part of the HapMap project. TMPRSS9 NA19240 esv1399285 19 2348799 2349175 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119703 S 2 0 1 TMPRSS9 HuRef dgv3636n71 19 2356559 2434713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910658,nsv910653,nsv910662,nsv910657 M 6533 0 8 GADD45B,LMNB2,TIMM13,TMPRSS9 IS32322,IS32841,IS33776,IS39258,IS40230,IS41243,IS41634,MS13770 dgv3637n71 19 2356559 2479705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910663,nsv910654,nsv910659 M 6533 0 3 GADD45B,GNG7,LMNB2,TIMM13,TMPRSS9 IS37646,IS39233,MS18276 esv1707583 19 2356610 2356924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115511 S 2 0 1 TMPRSS9 HuRef nsv910655 19 2361829 2398987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571573 S 6533 0 1 LMNB2,TIMM13,TMPRSS9 IS32737 dgv3638n71 19 2361829 2416737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910656,nsv910661 M 6533 0 2 LMNB2,TIMM13,TMPRSS9 IS34304,SP54956 nsv910660 19 2361829 2531057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546991 S 6533 0 1 GADD45B,GNG7,LMNB2,TIMM13,TMPRSS9 MS17208 dgv3639n71 19 2367377 2395363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910666,nsv910664 M 6533 0 2 LMNB2,TIMM13,TMPRSS9 SP54725,SP54988 nsv910665 19 2371674 2389119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508670 S 6533 0 1 LMNB2,TIMM13,TMPRSS9 SP54657 nsv910667 19 2374439 2384890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508675 S 6533 0 1 LMNB2,TIMM13,TMPRSS9 SP54591 esv23012 19 2383885 2384730 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13099 S 451 0 1 LMNB2 NA18508 esv1372661 19 2401795 2402128 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3919078 S 2 0 1 LMNB2 HuRef nsv910668 19 2416737 2465565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575195 S 6533 0 1 GADD45B,GNG7 IS33684 esv274471 19 2426294 2426379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581051 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2538326 19 2431588 2432326 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266081 S 1 1 0 "" NA18507 nsv910669 19 2434847 2614849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530937 S 6533 0 1 GNG7 MS10311 nsv910670 19 2451252 2485518 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576107,nssv1575760,nssv1592415,nssv1592849 M 6533 1 3 GNG7 IS33797,IS33871,IS39233,IS39258 dgv3640n71 19 2451252 2493673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910671,nsv910673 M 6533 0 3 GNG7 IS33178,IS34304,IS38293 nsv910672 19 2451252 2508610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586834 S 6533 0 1 GNG7 IS37985 nsv910674 19 2456737 2538576 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532520 S 6533 0 1 GNG7 MS10769 nsv509714 19 2470627 2745401 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623742,nssv623741 M 4 1 0 DIRAS1,GNG7,SGTA,SLC39A3,THOP1 NA18994 nsv833708 19 2484003 2613636 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454206,nssv1454197,nssv1454203,nssv1454196,nssv1454202,nssv1454198,nssv1454200,nssv1454204,nssv1454205,nssv1454207,nssv1454199,nssv1454201 M 95 0 12 GNG7 nsv526820 19 2485518 2485581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703174 S 2026 0 1 GNG7 esv1406094 19 2499791 2499791 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817248 S 2 1 0 GNG7 HuRef nsv910675 19 2501852 2768724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543773 S 6533 0 1 DIRAS1,GNG7,SGTA,SLC39A3,THOP1 MS16153 nsv470109 19 2508610 2670367 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546438 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DIRAS1,GNG7 HGDP00313 esv2444878 19 2519400 2519550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297193 S 1 0 1 GNG7 NA18507 nsv458326 19 2524995 2570143 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535277 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNG7 HGDP00910 nsv470111 19 2527272 2570143 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546439 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNG7 HGDP00910 esv1706865 19 2546103 2546718 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613716 S 2 0 1 GNG7 HuRef nsv910676 19 2549192 2704270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546992 S 6533 0 1 DIRAS1,GNG7,SLC39A3 MS17208 dgv3641n71 19 2601034 2778300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910679,nsv910677 M 6533 0 2 DIRAS1,GNG7,SGTA,SLC39A3,THOP1,ZNF554 IS39417,MS18276 nsv910678 19 2628012 2724253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571980 S 6533 0 1 DIRAS1,GNG7,SGTA,SLC39A3 IS32841 nsv910680 19 2633749 2684394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514731 S 6533 0 1 DIRAS1,GNG7,SLC39A3 SP56047 nsv828397 19 2639985 2751504 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437121 S 31 1 0 DIRAS1,GNG7,SGTA,SLC39A3,THOP1 NA18542 esv29337 19 2643117 2646570 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15552 S 451 0 1 GNG7 NA18508 esv2153598 19 2646385 2647301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987354 S 1 0 1 GNG7 NA18507 nsv910681 19 2650585 2689352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511576,nssv1510261 M 6533 0 2 DIRAS1,GNG7,SLC39A3 SP54956,SP55021 dgv3642n71 19 2650585 2732325 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910682,nsv910684,nsv910683 M 6533 0 3 DIRAS1,GNG7,SGTA,SLC39A3 IS33514,IS33776,IS39233 esv23824 19 2652479 2653569 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16219 S 451 0 2 GNG7 NA11993,NA12006 dgv3643n71 19 2659337 2778300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910687,nsv910686,nsv910685,nsv910690,nsv910688 M 6533 0 5 DIRAS1,SGTA,SLC39A3,THOP1,ZNF554 IS33504,IS34057,IS35484,IS37172,MS10698 nsv137989 19 2664054 2664405 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156567 M 24 "" esv24565 19 2664066 2665451 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15566 S 451 1 0 "" NA15510 esv7968 19 2664079 2664443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30409 S 1 0 1 "" SJK esv2229192 19 2665185 2665612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659194 S 1 0 1 DIRAS1 NA18507 nsv828399 19 2665964 2675568 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434082 S 31 1 0 DIRAS1 NA18526 nsv819697 19 2666086 2667128 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419161 S 2 0 1 DIRAS1 AK1 nsv910689 19 2666287 2689352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508394,nssv1507971 M 6533 0 2 DIRAS1,SLC39A3 SP54591,SP54593 nsv910691 19 2697519 2778300 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532521 S 6533 0 1 SGTA,THOP1,ZNF554 MS10769 nsv910692 19 2722641 2884181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546993 S 6533 0 1 SGTA,THOP1,ZNF554,ZNF555,ZNF556,ZNF57 MS17208 esv2605105 19 2723403 2725173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289506 S 1 0 1 SGTA NA18507 esv2363232 19 2723626 2724173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981167 S 1 0 1 SGTA NA18507 esv29323 19 2723808 2725118 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11789 S 451 0 13 SGTA NA11993,NA12044,NA12287,NA12878,NA18505,NA18523,NA18858,NA18861,NA18907,NA19108,NA19114,NA19190,NA19240 esv1403577 19 2724194 2724317 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315988 S 2 0 1 SGTA HuRef esv1158443 19 2724338 2724871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205421 S 2 0 1 SGTA HuRef nsv910693 19 2726723 2781344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510262 S 6533 0 1 SGTA,THOP1,ZNF554 SP54956 nsv509715 19 2746592 2821099 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623743 S 4 1 0 THOP1,ZNF554,ZNF555,ZNF556 NA18994 esv1006393 19 2756830 2756885 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577994 S 3 0 1 THOP1 HuRef esv1432748 19 2756907 2756963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704076 S 2 0 1 THOP1 HuRef esv1039020 19 2762854 2762854 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803562 S 2 1 0 THOP1 HuRef esv2453637 19 2768577 2770415 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253038 S 1 0 1 "" NA18507 esv28522 19 2768651 2769621 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9923 S 451 0 3 "" NA12287,NA18508,NA18909 nsv528638 19 2778300 2797557 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705269 S 2026 1 0 ZNF554,ZNF555 esv2118962 19 2786981 2787406 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884479 S 1 0 1 ZNF554 NA18507 esv27111 19 2792218 2793149 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20840 S 451 0 1 ZNF555 NA12239 nsv482209 19 2792482 2805033 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558570 S 1 0 1 ZNF555 KB1 esv1000566 19 2859454 2869643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564466 S 3 0 1 ZNF57 HuRef esv2555501 19 2859995 2862749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187101 S 1 0 1 ZNF57 NA18507 nsv511619 19 2860033 2866738 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626250 S 1 0 1 ZNF57 1 nsv512558 19 2860068 2861750 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625165 S 1 0 1 ZNF57 1 esv22112 19 2860172 2861422 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10127,esv13893 M 451 14 0 ZNF57 NA12006,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19225,NA19240 esv1105151 19 2860347 2861527 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284921 S 2 0 1 ZNF57 HuRef nsv821398 19 2860624 2861422 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420029 S 1 0 1 ZNF57 NA10851 esv23141 19 2897001 2899250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16253 S 451 0 1 "" NA07045 nsv2390 19 2899212 2911788 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7424 S 9 0 1 "" NA12156 nsv833709 19 2901242 3019607 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454209,nssv1454208 M 95 0 2 AES,TLE2,TLE6 esv26876 19 2903464 2912355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11250 S 451 0 1 "" NA18517 nsv910694 19 2913275 3103982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592417 S 6533 0 1 AES,GNA11,GNA15,TLE2,TLE6 IS39233 dgv47n68 19 2928774 3113119 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833710,nsv833711 M 95 0 15 AES,GNA11,GNA15,TLE2,TLE6 nsv910695 19 2931269 3023859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530938 S 6533 0 1 AES,TLE2,TLE6 MS10311 nsv2391 19 2956881 2988947 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5719 S 9 1 0 TLE2 NA19129 dgv3644n71 19 2966481 3106736 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910698,nsv910701,nsv910696,nsv910699 M 6533 0 4 AES,GNA11,GNA15,TLE2 IS33504,IS35484,MS16153,SP54988 nsv910697 19 2971691 3158646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586051 S 6533 0 1 AES,GNA11,GNA15,NCLN,S1PR4,TLE2 IS37646 nsv910700 19 2981168 3055629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510263 S 6533 0 1 AES,GNA11,TLE2 SP54956 nsv910702 19 2993734 3014409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511577 S 6533 0 1 AES,TLE2 SP55021 nsv910703 19 3005567 3021479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511275 S 6533 0 1 AES SP55019 nsv509716 19 3028660 3213651 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619742,nssv623744,nssv621058,nssv623745 M 4 3 0 CELF5,GNA11,GNA15,NCLN,S1PR4 NA10860,NA15510,NA18994 dgv3645n71 19 3029394 3103982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910707,nsv910704,nsv910711,nsv910710 M 6533 0 5 GNA11,GNA15 IS32888,IS33162,IS33455,IS33684,IS39258 dgv3646n71 19 3035944 3077332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910708,nsv910705 M 6533 0 2 GNA11 IS32737,IS40230 dgv3647n71 19 3035944 3087845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910706,nsv910709 M 6533 0 2 GNA11,GNA15 IS41410,MS18276 nsv470112 19 3046927 3077332 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546440 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNA11 HGDP01090 nsv470113 19 3050982 3077332 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546441 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNA11 HGDP00550 nsv910712 19 3056987 3077332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508960 S 6533 0 1 GNA11 SP54672 nsv910713 19 3067725 3077332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513568 S 6533 1 0 GNA11 SP55797 nsv910714 19 3067725 3132066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537162 S 6533 0 1 GNA11,GNA15,S1PR4 MS13095 nsv435938 19 3078909 3079163 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465657 S 2 1 0 "" NA15510 nsv513508 19 3078948 3079281 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625920 S 1 1 0 "" 1 esv2584592 19 3096449 3097046 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339883 S 1 1 0 GNA15 NA18507 esv1660661 19 3096601 3096601 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915475 S 2 1 0 GNA15 HuRef dgv3648n71 19 3106902 3178102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910716,nsv910715 M 6533 0 2 CELF5,GNA15,NCLN,S1PR4 IS34235,IS39233 esv1005890 19 3120170 3127648 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565091 S 3 0 1 "" HuRef nsv821254 19 3123028 3126904 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420030 S 1 0 1 "" NA10851 esv2463657 19 3123373 3127066 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264657 S 1 0 1 "" NA18507 esv28467 19 3123493 3126878 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11577 S 451 1 28 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19147,NA19190,NA19225,NA19240,NA19257 esv995709 19 3123708 3126818 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586373 S 3 0 1 "" HuRef esv1554404 19 3124009 3124317 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355941 S 2 0 1 "" HuRef nsv138042 19 3124380 3126819 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156620 M 24 "" esv1454505 19 3124652 3124863 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070623 S 2 0 1 "" HuRef esv998283 19 3125266 3126725 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579639 S 3 0 1 "" HuRef esv1702643 19 3125337 3126682 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820129 S 2 0 1 "" HuRef esv1694234 19 3126718 3126834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238569 S 2 0 1 "" HuRef esv1590281 19 3129265 3129265 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288961 S 2 1 0 "" HuRef dgv3649n71 19 3135083 3186188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910718,nsv910719,nsv910717 M 6533 0 3 CELF5,NCLN MS16315,SP54956,SP54988 nsv910720 19 3140278 3159043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511578 S 6533 0 1 NCLN SP55021 nsv910721 19 3147667 3160661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508632 S 6533 0 1 NCLN SP54725 nsv833712 19 3181780 3316288 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454229,nssv1454228,nssv1454226,nssv1454227,nssv1454230,nssv1454231,nssv1454225 M 95 0 7 CELF5,NFIC esv2494686 19 3186346 3187299 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292507 S 1 1 0 CELF5 NA18507 esv1459053 19 3186503 3186503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139218 S 2 1 0 CELF5 HuRef esv1699504 19 3186701 3186701 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018742 S 2 1 0 CELF5 HuRef nsv910722 19 3212995 3802344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592419 S 6533 0 1 APBA3,C19orf28,C19orf29,C19orf29-AS1,C19orf71,C19orf77,CELF5,DOHH,FZR1,GIPC3,HMG20B,MATK,MRPL54,NFIC,PIP5K1C,RAX2,TBXA2R,TJP3,ZFR2 IS39233 nsv910723 19 3219785 3589856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543775 S 6533 0 1 C19orf28,C19orf29,C19orf29-AS1,C19orf71,C19orf77,CELF5,DOHH,FZR1,GIPC3,HMG20B,NFIC,PIP5K1C,TBXA2R MS16153 nsv509717 19 3222018 3343048 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623747,nssv623746 M 4 1 0 CELF5,NFIC NA18994 nsv138276 19 3257044 3257044 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156854 M 24 "" esv2532862 19 3259988 3261485 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183746 S 1 0 1 "" NA18507 esv2203394 19 3260851 3261310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530441 S 1 0 1 "" NA18507 esv1318547 19 3261690 3262009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244114 S 2 0 1 "" HuRef esv2426031 19 3261691 3262161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189853 S 1 0 1 "" NA18507 nsv138150 19 3262072 3262193 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156728 M 24 "" esv1420746 19 3262160 3262288 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810702 S 2 0 1 "" HuRef dgv3650n71 19 3295477 3333274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910724,nsv910725 M 6533 0 2 NFIC SP51109,SP54956 dgv3651n71 19 3305956 3802344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910737,nsv910733,nsv910726,nsv910734,nsv910728 M 6533 0 5 APBA3,C19orf28,C19orf29,C19orf29-AS1,C19orf71,C19orf77,DOHH,FZR1,GIPC3,HMG20B,MATK,MRPL54,NFIC,PIP5K1C,RAX2,TBXA2R,TJP3,ZFR2 IS32737,IS37646,MS10311,MS17208,MS18276 nsv470114 19 3323514 3806977 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546443,nssv546446,nssv546445,nssv546447,nssv546444 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA3,C19orf28,C19orf29,C19orf29-AS1,C19orf71,C19orf77,DOHH,FZR1,GIPC3,HMG20B,MATK,MRPL54,NFIC,PIP5K1C,RAX2,TBXA2R,TJP3,ZFR2 HGDP00288,HGDP00290,HGDP00550,HGDP00556,HGDP01397 dgv3652n71 19 3325702 3554227 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910732,nsv910727 M 6533 0 2 C19orf28,C19orf71,C19orf77,DOHH,FZR1,GIPC3,HMG20B,NFIC,TBXA2R IS33601,MS16315 esv1167286 19 3357334 3357468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024912 S 2 0 1 NFIC HuRef dgv3653n71 19 3365088 3503093 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910729,nsv910736,nsv910735,nsv910730,nsv910731 M 6533 0 5 C19orf28,C19orf71,C19orf77,DOHH,FZR1,NFIC IS32322,IS33248,IS34304,IS37172,SP54956 nsv910738 19 3392385 3409653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511027 S 6533 0 1 NFIC SP54988 nsv526602 19 3403683 3442368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702922 S 2026 0 1 C19orf77,DOHH,NFIC dgv3654n71 19 3421862 3505783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910739,nsv910741 M 6533 0 2 C19orf28,C19orf71,C19orf77,DOHH,FZR1 IS33239,IS40230 esv24346 19 3426233 3431366 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16120 S 451 1 0 C19orf77 NA12044 dgv3655n71 19 3439287 3589856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910742,nsv910743,nsv910740 M 6533 0 3 C19orf28,C19orf29,C19orf29-AS1,C19orf71,DOHH,FZR1,GIPC3,HMG20B,PIP5K1C,TBXA2R IS33504,IS39417,SP54988 dgv3656n71 19 3459499 3682847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910751,nsv910744 M 6533 0 2 C19orf28,C19orf29,C19orf29-AS1,C19orf71,FZR1,GIPC3,HMG20B,PIP5K1C,TBXA2R,TJP3 IS33684,MS10769 nsv910745 19 3462709 3516357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580954 S 6533 0 1 C19orf28,C19orf71,FZR1 IS35484 nsv910746 19 3473132 3495725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514316 S 6533 0 1 C19orf28,C19orf71,FZR1 SP55992 esv26869 19 3479562 3481792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20215 S 451 0 3 FZR1 NA07037,NA11993,NA12414 dgv3657n71 19 3486606 3588395 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910749,nsv910747 M 6533 0 2 C19orf28,C19orf29,C19orf29-AS1,C19orf71,FZR1,GIPC3,HMG20B,PIP5K1C,TBXA2R IS32841,SP54956 nsv910748 19 3490488 3542590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532003 S 6533 0 1 C19orf28,C19orf71,GIPC3,HMG20B MS10698 esv1009517 19 3507882 3507884 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581986 S 3 1 0 C19orf28 HuRef esv1722786 19 3507990 3507990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777241 S 2 1 0 C19orf28 HuRef nsv833713 19 3515421 3578359 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454252,nssv1454257,nssv1454236,nssv1454249,nssv1454251,nssv1454250,nssv1454256,nssv1454254,nssv1454253,nssv1454235,nssv1454232,nssv1454255,nssv1454234,nssv1454233,nssv1454248,nssv1454239,nssv1454238,nssv1454237,nssv1454242,nssv1454241,nssv1454240,nssv1454244,nssv1454247,nssv1454260,nssv1454243,nssv1454246,nssv1454245,nssv1454259,nssv1454258 M 95 0 29 C19orf29,C19orf29-AS1,GIPC3,HMG20B,TBXA2R dgv3658n71 19 3516909 3589856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910753,nsv910756,nsv910750,nsv910754,nsv910759 M 6533 0 6 C19orf29,C19orf29-AS1,GIPC3,HMG20B,PIP5K1C,TBXA2R IS30369,IS32322,IS34057,IS38538,IS41410,SP55021 nsv910752 19 3522446 3555549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576773 S 6533 0 1 GIPC3,HMG20B,TBXA2R IS34235 dgv3659n71 19 3529773 3554227 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910760,nsv910755 M 6533 0 3 GIPC3,HMG20B,TBXA2R IS33455,IS39258,SP54043 dgv3660n71 19 3529773 3743245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910765,nsv910757 M 6533 0 2 APBA3,C19orf29,C19orf29-AS1,GIPC3,HMG20B,MATK,MRPL54,PIP5K1C,RAX2,TBXA2R,TJP3 IS35484,IS37172 dgv3661n71 19 3530481 3566465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910761,nsv910758 M 6533 0 2 C19orf29,C19orf29-AS1,GIPC3,TBXA2R SP54672,SP54725 nsv910762 19 3540339 3561776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576977 S 6533 0 1 C19orf29,C19orf29-AS1,GIPC3,TBXA2R IS34304 nsv910763 19 3543730 3589856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532004,nssv1596091 M 6533 0 2 C19orf29,C19orf29-AS1,GIPC3,PIP5K1C,TBXA2R IS40396,MS10698 nsv910764 19 3543730 3630740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544342 S 6533 0 1 C19orf29,C19orf29-AS1,GIPC3,PIP5K1C,TBXA2R MS16315 nsv910766 19 3594093 3656677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511029 S 6533 0 1 PIP5K1C SP54988 esv28172 19 3600029 3600899 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15148 S 451 7 0 PIP5K1C NA11995,NA12006,NA12239,NA12414,NA18502,NA19190,NA19257 esv1403607 19 3600461 3600511 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982397 S 2 0 1 PIP5K1C HuRef dgv3662n71 19 3627507 3743245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910769,nsv910767 M 6533 0 3 APBA3,MATK,MRPL54,PIP5K1C,RAX2,TJP3 IS30369,IS40396,SP54956 nsv509718 19 3627945 3795681 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623748 S 4 1 0 APBA3,MATK,MRPL54,PIP5K1C,RAX2,TJP3,ZFR2 NA18994 nsv910768 19 3649333 3720049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570844 S 6533 0 1 APBA3,MRPL54,PIP5K1C,TJP3 IS32322 nsv828400 19 3651449 3652590 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422052 S 31 1 0 PIP5K1C NA18969 esv1006960 19 3662941 3668216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565442 S 3 0 1 "" HuRef esv1650113 19 3669984 3669984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624327 S 2 1 0 "" HuRef nsv910770 19 3684651 3806977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599460 S 6533 0 1 APBA3,MATK,MRPL54,RAX2,TJP3,ZFR2 IS41634 dgv3663n71 19 3689649 3743245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910772,nsv910776,nsv910774,nsv910771 M 6533 0 8 APBA3,MATK,MRPL54,RAX2,TJP3 IS32841,IS33239,IS34057,IS39258,IS39417,IS40502,MS17522,SP54043 nsv910773 19 3691658 3713498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501304 S 6533 0 1 APBA3,TJP3 SP51109 nsv513509 19 3693231 3693727 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625921 S 1 1 0 TJP3 1 nsv910775 19 3697207 3730934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511030 S 6533 0 1 APBA3,MATK,MRPL54,RAX2,TJP3 SP54988 esv271721 19 3712980 3713210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498630,essv2495627,essv2504760,essv2506584,essv2511946,essv2498001 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA18916,NA19099,NA19108,NA19238,NA19240 esv272590 19 3712987 3713110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584014,essv2583441 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv910777 19 3717720 3802344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553770 S 6533 0 1 MATK,MRPL54,RAX2,ZFR2 MS20286 esv1011184 19 3723968 3734839 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563513 S 3 0 1 MATK HuRef nsv833715 19 3737756 3928142 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454262,nssv1454261 M 95 0 2 ATCAY,DAPK3,EEF2,ITGB1BP3,MATK,MIR637,ZFR2 dgv3664n71 19 3747849 3806977 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910778,nsv910779 M 6533 0 2 MATK,ZFR2 IS32322,IS40230 nsv910780 19 3747849 3934302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586053 S 6533 0 1 ATCAY,DAPK3,EEF2,ITGB1BP3,MATK,MIR637,SNORD37,ZFR2 IS37646 esv2071608 19 3771713 3772148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619029 S 1 0 1 ZFR2 NA18507 esv5059 19 3771759 3772278 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27500 S 1 0 1 Single Asian sample YH ZFR2 YH esv1995150 19 3817227 3817675 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703776 S 1 0 1 ZFR2 NA18507 nsv138020 19 3817387 3817447 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156598 M 24 ZFR2 esv991288 19 3817409 3817469 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575285 S 3 0 1 ZFR2 HuRef esv1602911 19 3817448 3817509 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673046 S 2 0 1 ZFR2 HuRef nsv910781 19 3831577 3861933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518227 S 6533 0 1 ATCAY SP57472 dgv3665n71 19 3844993 4090849 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910785,nsv910782,nsv910787,nsv910784 M 6533 0 5 ATCAY,DAPK3,EEF2,ITGB1BP3,MAP2K2,MIR637,PIAS4,SNORD37,ZBTB7A IS39233,MS10311,MS10769,MS16153,MS18276 nsv910783 19 3844993 4153793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546995 S 6533 0 1 ANKRD24,ATCAY,CREB3L3,DAPK3,EEF2,ITGB1BP3,MAP2K2,MIR637,PIAS4,SIRT6,SNORD37,ZBTB7A MS17208 esv1401003 19 3860148 3860148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958797 S 2 1 0 ATCAY HuRef nsv910786 19 3879369 3962265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544343 S 6533 0 1 DAPK3,EEF2,ITGB1BP3,MIR637,PIAS4,SNORD37 MS16315 esv26716 19 3888031 3889551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10052 S 451 0 1 ITGB1BP3 NA11993 dgv3666n71 19 3895240 4063895 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910788,nsv910789,nsv910790 M 6533 0 3 DAPK3,EEF2,MAP2K2,MIR637,PIAS4,SNORD37,ZBTB7A IS37172,SP54956,SP54988 nsv910791 19 3903061 3927053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508435 S 6533 0 1 DAPK3,MIR637 SP54725 dgv3667n71 19 3921435 4090849 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910797,nsv910792,nsv910799 M 6533 0 3 EEF2,MAP2K2,PIAS4,SNORD37,ZBTB7A IS33178,IS33684,IS41410 esv1001715 19 3923103 3932535 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565383 S 3 0 1 EEF2 HuRef esv2442702 19 3923874 3926324 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268489 S 1 0 1 "" NA18507 nsv512559 19 3924088 3926262 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625167 S 1 0 1 "" 1 esv24999 19 3924264 3925945 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13602 S 451 1 0 "" NA07045 dgv3668n71 19 3927441 3935132 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910793,nsv910795 M 6533 3 0 EEF2,SNORD37 SP54442,SP54614,SP54650 nsv910794 19 3927549 3933241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505270 S 6533 0 1 EEF2 SP53347 nsv910796 19 3927549 3941291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508953 S 6533 1 0 EEF2,SNORD37 SP54620 nsv2392 19 3929492 3954200 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4338,nssv1430 M 9 2 0 EEF2,SNORD37 NA12878,NA19240 nsv828401 19 3940295 3963940 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423855 S 31 1 0 PIAS4 NA18999 esv996969 19 3940877 3941128 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563986 S 3 1 0 "" HuRef nsv519665 19 3958080 3991305 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696980 S 2026 0 1 PIAS4 dgv3669n71 19 3962932 4025697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910800,nsv910798 M 6533 0 2 PIAS4,ZBTB7A SP54043,SP54725 nsv470115 19 3975020 4049776 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546448 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAP2K2,PIAS4,ZBTB7A HGDP00288 dgv3670n71 19 3979783 4025697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910801,nsv910812,nsv910809,nsv910807,nsv910804,nsv910802,nsv910803 M 6533 0 11 PIAS4,ZBTB7A SP51109,SP54042,SP54591,SP54672,SP54684,SP54750,SP54937,SP54967,SP55019,SP55021,SP55318 dgv3671n71 19 3984718 4014067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910810,nsv910806,nsv910805 M 6533 0 3 PIAS4,ZBTB7A SP54225,SP54776,SP55056 esv9150 19 3986852 3987632 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31591 S 1 0 1 PIAS4 SJK nsv828402 19 3988458 4028404 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437122 S 31 1 0 PIAS4,ZBTB7A NA18542 dgv3672n71 19 3988986 4025697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910811,nsv910808,nsv910815 M 6533 0 3 PIAS4,ZBTB7A SP54593,SP56047,SP81010 dgv3673n71 19 3991305 4131836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910813,nsv910814 M 6533 0 3 CREB3L3,MAP2K2,SIRT6,ZBTB7A IS38176,MS13095,MS14485 nsv828403 19 3994167 3998802 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435539 S 31 0 1 ZBTB7A NA18942 esv26783 19 4016267 4018669 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16493 S 451 0 1 ZBTB7A NA12489 nsv2393 19 4068490 4100563 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10172 S 9 1 0 MAP2K2 NA18956 nsv910816 19 4070012 4141870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552795 S 6533 0 1 ANKRD24,CREB3L3,MAP2K2,SIRT6 MS19630 nsv833716 19 4072257 4225851 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454266,nssv1454263,nssv1454267,nssv1454265,nssv1454264 M 95 0 5 ANKRD24,CCDC94,CREB3L3,EBI3,MAP2K2,SIRT6 esv1448615 19 4073270 4073270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197021 S 2 1 0 MAP2K2 HuRef esv999672 19 4088272 4095186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564516 S 3 0 1 "" HuRef nsv910817 19 4098445 4485014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586054 S 6533 0 1 ANKRD24,CCDC94,CHAF1A,CREB3L3,EBI3,FSD1,HDGFRP2,MIR4746,MPND,PLIN4,PLIN5,SH3GL1,SHD,SIRT6,STAP2,TMIGD2,UBXN6 IS37646 nsv910818 19 4115474 4239332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592421 S 6533 0 1 ANKRD24,CCDC94,CREB3L3,EBI3,SHD,SIRT6 IS39233 nsv910819 19 4142051 4194792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510270 S 6533 0 1 ANKRD24,EBI3 SP54956 nsv833717 19 4155754 4319516 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454268 S 95 0 1 ANKRD24,CCDC94,EBI3,FSD1,MPND,SH3GL1,SHD,STAP2,TMIGD2 esv1448643 19 4161588 4161645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801601 S 2 0 1 ANKRD24 HuRef esv32625 19 4170533 4175602 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94501,essv96435 M 51 2 0 ANKRD24 21932,22261 nsv833718 19 4172574 4431245 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454269,nssv1454270 M 95 0 2 ANKRD24,CCDC94,CHAF1A,EBI3,FSD1,HDGFRP2,MIR4746,MPND,SH3GL1,SHD,STAP2,TMIGD2,UBXN6 esv1618091 19 4179490 4179490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721179 S 2 1 0 "" HuRef nsv910820 19 4187996 4520809 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564392 S 6533 1 0 CCDC94,CHAF1A,EBI3,FSD1,HDGFRP2,LRG1,MIR4746,MPND,PLIN4,PLIN5,SEMA6B,SH3GL1,SHD,STAP2,TMIGD2,UBXN6 IS30204 esv28436 19 4197932 4198485 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16571 S 451 0 1 CCDC94 NA12239 dgv3674n71 19 4239555 4569750 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910822,nsv910826,nsv910821 M 6533 0 3 CHAF1A,FSD1,HDGFRP2,LRG1,MIR4746,MPND,PLIN4,PLIN5,SEMA6B,SH3GL1,SHD,STAP2,TMIGD2,UBXN6 MS10311,MS16153,SP54956 dgv3675n71 19 4252845 4335674 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910825,nsv910823 M 6533 0 2 FSD1,MPND,SH3GL1,STAP2,TMIGD2 IS33504,IS39233 nsv910824 19 4257209 4306300 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512710 S 6533 1 0 FSD1,MPND,STAP2 SP55596 nsv458328 19 4271218 4337352 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535278 S 1557 1 0 FSD1,MPND,SH3GL1,STAP2 NINDS_194 esv1106527 19 4272308 4272308 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958320 S 2 1 0 FSD1 HuRef nsv833719 19 4276242 4329049 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454271,nssv1454276,nssv1454274,nssv1454275,nssv1454273,nssv1454272 M 95 0 6 MPND,SH3GL1,STAP2 esv4291 19 4285723 4285975 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26732 S 1 0 1 Single Asian sample YH STAP2 YH esv9292 19 4285753 4285828 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31733 S 1 1 0 STAP2 SJK nsv910827 19 4306300 4417107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546996 S 6533 0 1 CHAF1A,MIR4746,MPND,SH3GL1,UBXN6 MS17208 nsv833720 19 4318718 4491568 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454277 S 95 0 1 CHAF1A,HDGFRP2,LRG1,MIR4746,PLIN4,PLIN5,SH3GL1,UBXN6 dgv3676n71 19 4379041 4526751 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910835,nsv910828,nsv910834,nsv910831,nsv910832,nsv910838,nsv910833 M 6533 0 7 CHAF1A,HDGFRP2,LRG1,MIR4746,PLIN4,PLIN5,SEMA6B,UBXN6 IS32322,IS32841,IS33455,IS33684,IS33797,IS39233,MS10769 dgv3677n71 19 4394046 4472625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910829,nsv910830 M 6533 0 3 CHAF1A,HDGFRP2,MIR4746,PLIN4,UBXN6 IS41410,MS11237,MS11726 nsv910836 19 4405092 4426270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506109 S 6533 0 1 HDGFRP2,UBXN6 SP54043 nsv828404 19 4411601 4423060 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422063 S 31 1 0 "" NA18969 nsv910837 19 4417107 4463995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571576 S 6533 0 1 HDGFRP2,PLIN4 IS32737 nsv470116 19 4417107 4472625 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546449 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HDGFRP2,PLIN4 HGDP01275 esv23101 19 4422340 4423189 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15832 S 451 0 1 "" NA12239 nsv910839 19 4426362 4485014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546997 S 6533 0 1 HDGFRP2,PLIN4,PLIN5 MS17208 dgv3678n71 19 4426362 4668187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910840,nsv910841 M 6533 0 2 C19orf10,DPP9,HDGFRP2,LOC100131094,LRG1,PLIN4,PLIN5,SEMA6B,TNFAIP8L1 IS33504,MS18276 nsv910842 19 4439470 4566843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572707 S 6533 0 1 HDGFRP2,LRG1,PLIN4,PLIN5,SEMA6B IS33162 nsv910843 19 4453201 4504185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538742 S 6533 0 1 HDGFRP2,LRG1,PLIN4,PLIN5,SEMA6B MS13770 nsv137949 19 4460338 4461377 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156527 M 24 PLIN4 nsv428361 19 4461054 4640201 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453607,nssv453611,nssv453608,nssv453612,nssv453610,nssv453606 M 62 0 6 C19orf10,DPP9,LOC100131094,LRG1,PLIN4,PLIN5,SEMA6B,TNFAIP8L1 HGDP00462,HGDP00471,HGDP00474,HGDP00476,HGDP01094,NA19181 esv23799 19 4461620 4464210 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13615,esv10391 M 451 0 12 PLIN4 NA12044,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190 esv5020 19 4462172 4462842 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27461 S 1 0 1 Single Asian sample YH PLIN4 YH esv2892 19 4462268 4462841 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25333 S 1 0 0 Single Asian sample YH PLIN4 YH esv1218220 19 4462282 4462282 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103248 S 2 1 0 PLIN4 HuRef esv5592 19 4462501 4462767 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28033 S 1 0 1 PLIN4 SJK esv1468103 19 4462539 4462737 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321357 S 2 0 1 PLIN4 HuRef esv990843 19 4462547 4462744 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568769 S 3 0 1 PLIN4 HuRef esv1932333 19 4463517 4464030 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874997 S 1 0 1 PLIN4 NA18507 nsv138483 19 4464038 4464235 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157061 M 24 PLIN4 nsv828405 19 4491180 4497237 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422086 S 31 1 0 SEMA6B NA18969 nsv910844 19 4491429 4520809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571577 S 6533 0 1 SEMA6B IS32737 nsv2394 19 4498434 4543435 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7425 S 9 0 1 SEMA6B NA12156 esv1703929 19 4513036 4513036 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109616 S 2 1 0 "" HuRef dgv3679n71 19 4526751 4605757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910846,nsv910845 M 6533 0 2 TNFAIP8L1 IS41956,MS20359 esv27947 19 4530235 4533395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21075 S 451 1 0 "" NA12044 nsv910847 19 4550172 4767160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530942 S 6533 0 1 C19orf10,DPP9,FEM1A,LOC100131094,MIR7-3,MIR7-3HG,TICAM1,TNFAIP8L1 MS10311 nsv526746 19 4558587 4598231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703090 S 2026 0 1 TNFAIP8L1 nsv828406 19 4566296 4573333 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436774 S 31 0 1 "" NA18592 nsv910848 19 4566843 4715306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571984 S 6533 0 1 C19orf10,DPP9,LOC100131094,TNFAIP8L1 IS32841 esv6104 19 4569560 4570143 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28545 S 1 0 1 "" SJK esv1010181 19 4569597 4570580 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567525 S 3 0 1 "" HuRef nsv910849 19 4573380 4636276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573581,nssv1575200 M 6533 0 2 C19orf10,DPP9,LOC100131094,TNFAIP8L1 IS33455,IS33684 dgv3680n71 19 4573380 4668187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910851,nsv910855,nsv910850 M 6533 0 3 C19orf10,DPP9,LOC100131094,TNFAIP8L1 IS38176,IS39233,MS17208 dgv3681n71 19 4573380 4686663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910857,nsv910852,nsv910858,nsv910854,nsv910853 M 6533 0 5 C19orf10,DPP9,LOC100131094,TNFAIP8L1 IS30369,IS32737,IS34005,IS38538,MS16153 nsv910856 19 4598231 4656508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576978,nssv1576774 M 6533 0 2 C19orf10,DPP9,LOC100131094,TNFAIP8L1 IS34235,IS34304 nsv833721 19 4599141 4719653 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454278 S 95 0 1 C19orf10,DPP9,LOC100131094,TNFAIP8L1 esv29521 19 4614056 4615031 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18032 S 451 1 0 C19orf10 NA12044 esv2068082 19 4622742 4623299 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735749 S 1 0 1 "" NA18507 esv26771 19 4643171 4645141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10294 S 451 0 1 DPP9 NA12749 nsv513510 19 4690096 4690302 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625922 S 1 1 0 "" 1 esv1512108 19 4690220 4690480 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992102 S 2 0 0 "" HuRef nsv910859 19 4727218 4836777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592425 S 6533 0 1 FEM1A,PLIN3,TICAM1 IS39233 nsv523986 19 4732910 4735553 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699842 S 2026 1 0 "" nsv470117 19 4762671 4851684 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546450 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARRDC5,PLIN3,TICAM1 HGDP00550 nsv910860 19 4792151 4859093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546999 S 6533 0 1 ARRDC5,PLIN3 MS17208 nsv522005 19 4798713 4819802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694775 S 2026 0 1 PLIN3 nsv910861 19 4799396 4829608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546036 S 6533 0 1 PLIN3 MS17113 nsv516323 19 4802850 4807694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667572,nssv698228,nssv676422 M 2026 0 3 PLIN3 nsv528462 19 4803337 4829608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705064 S 2026 0 1 PLIN3 nsv910862 19 4817451 5069835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530943 S 6533 0 1 ARRDC5,KDM4B,MIR4747,PLIN3,UHRF1 MS10311 esv1125423 19 4825758 4826077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689548 S 2 0 1 "" HuRef nsv517448 19 4826708 4829608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652047,nssv688575,nssv667525,nssv701000,nssv678143,nssv652800,nssv663984,nssv687867,nssv677896,nssv667709 M 2026 0 10 "" esv25954 19 4836263 4851658 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21102 S 451 1 0 ARRDC5 NA12749 esv1774618 19 4836372 4836372 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644547 S 2 1 0 "" HuRef nsv910863 19 4851684 4905310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549969 S 6533 0 1 ARRDC5,MIR4747,UHRF1 MS18276 dgv3682n71 19 4851684 4927335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910864,nsv910865 M 6533 0 2 ARRDC5,KDM4B,MIR4747,UHRF1 IS37646,SP54956 nsv518075 19 4884228 4896974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694198 S 2026 0 1 UHRF1 esv1664470 19 4916591 4916591 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251536 S 2 1 0 "" HuRef nsv910866 19 4946926 5029415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571985 S 6533 0 1 KDM4B IS32841 esv27574 19 4948958 4966266 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16012 S 451 1 0 KDM4B NA12287 nsv833722 19 4960407 5144570 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454279 S 95 0 1 KDM4B dgv3683n71 19 4968567 5021809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910869,nsv910870,nsv910867,nsv910868 M 6533 0 5 KDM4B IS32737,IS38176,IS39233,MS13770,SP54956 dgv3684n71 19 4973604 5093817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910871,nsv910874,nsv910876 M 6533 0 3 KDM4B IS40799,MS16153,MS18276 dgv3685n71 19 4988415 5017995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910873,nsv910872 M 6533 0 4 KDM4B IS32322,IS33162,IS33504,MS10769 nsv910875 19 4988415 5345056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587160 S 6533 0 1 KDM4B,PTPRS IS37990 esv2105827 19 4994536 4995116 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968387 S 1 0 1 KDM4B NA18507 nsv525126 19 5006196 5010360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701194 S 2026 0 1 KDM4B dgv3686n71 19 5010360 5125180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910877,nsv910879 M 6533 0 3 KDM4B IS37172,IS39233,MS17208 esv2013056 19 5026876 5027693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722478 S 1 0 1 KDM4B NA18507 esv26165 19 5027094 5027844 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17026 S 451 1 0 KDM4B NA12239 esv1001351 19 5027200 5027261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585175 S 3 0 1 KDM4B HuRef esv1201127 19 5027286 5027286 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150149 S 2 1 0 KDM4B HuRef dgv3687n71 19 5032364 5104606 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910880,nsv910878 M 6533 0 2 KDM4B IS40230,SP54988 dgv3688n71 19 5050099 5129324 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910881,nsv910882 M 6533 0 3 KDM4B IS32322,MS10311,MS10698 nsv833723 19 5057828 5224466 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454280 S 95 0 1 KDM4B,PTPRS nsv828407 19 5063995 5064754 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432553 S 31 0 1 KDM4B AK20 nsv510750 19 5072827 5197215 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622740 S 4 0 1 KDM4B,PTPRS NA18994 esv1690767 19 5095421 5095421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701230 S 2 1 0 KDM4B HuRef dgv3689n71 19 5125180 5212506 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910884,nsv910883,nsv910885 M 6533 0 3 PTPRS IS35484,IS39233,MS10311 nsv521544 19 5129324 5153825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698160 S 2026 0 1 "" dgv3690n71 19 5152800 5218751 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910887,nsv910886 M 6533 0 2 PTPRS IS33684,SP54988 dgv3691n71 19 5157775 5294270 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910889,nsv910888 M 6533 0 2 PTPRS IS37646,MS16153 esv1006709 19 5159602 5161175 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586867 S 3 0 1 PTPRS HuRef nsv833724 19 5164519 5350029 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454281,nssv1454282 M 95 0 2 PTPRS nsv910890 19 5176031 5205970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510274 S 6533 0 1 PTPRS SP54956 esv22199 19 5201743 5202257 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9839 S 451 0 2 PTPRS NA12414,NA19114 nsv510751 19 5307433 5438605 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622741 S 4 0 1 ZNRF4 NA18994 nsv833726 19 5350030 5502334 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454283 S 95 0 1 ZNRF4 dgv3692n71 19 5382265 5412962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910891,nsv910892 M 6533 0 2 ZNRF4 IS41881,MS10311 nsv470118 19 5395451 5417417 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546451 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNRF4 HGDP01275 nsv516923 19 5406263 5407930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702892,nssv672662,nssv658229,nssv655000,nssv675765,nssv691873 M 2026 0 6 ZNRF4 esv1005270 19 5449442 5449442 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575076 S 3 1 0 "" HuRef esv1683645 19 5449905 5449905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134983 S 2 1 0 "" HuRef nsv471733 19 5460785 5463225 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646014 M 1.250 95 "" esv993581 19 5460818 5462640 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565268 S 3 0 1 "" HuRef esv6006 19 5460858 5461793 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28447 S 1 0 1 "" SJK esv1389590 19 5460861 5461829 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726761 S 2 0 1 "" HuRef dgv569n67 19 5461049 5461752 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828410,nsv828408 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820417 19 5461049 5461752 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420031 S 1 0 1 "" NA10851 esv2421443 19 5461239 5461653 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5151949,essv5055823,essv5126277,essv5060908,essv5133078,essv5071679,essv5111712,essv5143526,essv5030952,essv5064098,essv5159478,essv5080357,essv5051931,essv5002924,essv5150195,essv5159374,essv5003357,essv5075348,essv5156805,essv5005369,essv5102941,essv5022275,essv5102200,essv5157283,essv5090221,essv5043299,essv5150507,essv5122967,essv5158305,essv5068573,essv5014961,essv5150961,essv5070013,essv5155777,essv5075773,essv5018165,essv5147390,essv5073085,essv5087638,essv5028596,essv5056616,essv5119475,essv5039026,essv5036109,essv5077681,essv5084228,essv5150763,essv5011849,essv5107479,essv5081519,essv5080177,essv5072832,essv5096779,essv5102757,essv5074998,essv5052871,essv5127432,essv5035619,essv5071610,essv5102037,essv5046794,essv5160986,essv5011486,essv5130709,essv5146007,essv5006159,essv5074875,essv5157232,essv5136311,essv5065293,essv5119319,essv5085405,essv5121363,essv5060477,essv5070851,essv5116589,essv5076044,essv5064825,essv5160916,essv5119869,essv5111069,essv5040466,essv5156183,essv5058788,essv5042473,essv5032704,essv5091069,essv5123738,essv5125216,essv5042141,essv5021836,essv5128941,essv5039266,essv5042354,essv5059545,essv5118176,essv5070977,essv5075481,essv5019489,essv5051911,essv5131599,essv5119546,essv5084748,essv5112728,essv5099423,essv5098119,essv5081040,essv5033982,essv5049814,essv5087783,essv5104060,essv5055880,essv5148187,essv5110734,essv5101677,essv5044531,essv5107203,essv5151522,essv5143171,essv5054034,essv5011417,essv5083120,essv5131655,essv5133543,essv5043189,essv5104860,essv5040223,essv5067760,essv5070853,essv5134065,essv5008404,essv5114435,essv5159601,essv5142019,essv5047634,essv5117986,essv5077211,essv5144529,essv5149302,essv5013410,essv5001943,essv5104744,essv5090206,essv5070695,essv5154547,essv5060773,essv5006539,essv5113076,essv5098983,essv5035113,essv5099727,essv5116134,essv5132046,essv5016982,essv5036683,essv5115969,essv5020505,essv5060643,essv5103724,essv5135029,essv5141361,essv5043418,essv5027271,essv5055692,essv5138131,essv5057728,essv5027303,essv5081149,essv5017734,essv5153355,essv5017213,essv5012857,essv5017090,essv5143859,essv5051742,essv5102310,essv5046811,essv5112451,essv5148414,essv5096199,essv5056887,essv5156325,essv5066550,essv5143623,essv5090935,essv5100256,essv5008476,essv5103072,essv5135956,essv5112268,essv5128610,essv5043548,essv5010593,essv5015015,essv5099060,essv5100335,essv5106170,essv5082679,essv5074542,essv5093375,essv5020393,essv5040662,essv5120055,essv5044756,essv5148759,essv5094169,essv5064983,essv5113970,essv5079671,essv5032372,essv5010945,essv5146639,essv5032485,essv5087429,essv5028526,essv5133714,essv5107604,essv5129863,essv5052787,essv5018504,essv5148795,essv5133597,essv5110877,essv5017535,essv5051156,essv5114425,essv5059933,essv5116610,essv5055023,essv5155001,essv5110113,essv5071676,essv5088197,essv5119440,essv5145570,essv5103672,essv5127118,essv5132622,essv5052754,essv5116254,essv5064645,essv5059031,essv5020130,essv5056087,essv5126038,essv5084705,essv5131044,essv5130728,essv5122238,essv5136781,essv5057549,essv5111639,essv5039358,essv5090437,essv5025668,essv5012201,essv5143328,essv5067397,essv5023818,essv5124452,essv5087624,essv5115509,essv5077166,essv5066034,essv5015014,essv5093710,essv5083914,essv5141490,essv5015523,essv5154989,essv5107474,essv5122430,essv5039788,essv5042660,essv5134259,essv5046824,essv5109777,essv5088584,essv5030529,essv5034941,essv5123357,essv5054331,essv5117504,essv5113272,essv5020354,essv5046726,essv5071370,essv5033035,essv5126557,essv5054637,essv5066764,essv5123098,essv5091775,essv5151550,essv5021078,essv5053010,essv5089434,essv5038838,essv5013148,essv5154393,essv5030359,essv5120610,essv5095884,essv5053769,essv5081967,essv5045734,essv5080029,essv5010216,essv5058459,essv5140480,essv5049685,essv5151637,essv5030651,essv5110036,essv5109804,essv5014080,essv5060222,essv5096452,essv5118345,essv5015083,essv5129108,essv5047510,essv5038993,essv5038635,essv5054103,essv5135068,essv5009687,essv5028567,essv5141022,essv5075647,essv5121905,essv5074382,essv5147367,essv5027683,essv5116311,essv5126716,essv5043058,essv5136270,essv5114846,essv5086610,essv5118219,essv5135802,essv5033932,essv5123749,essv5024397,essv5122219,essv5107160,essv5033873,essv5070743,essv5043416,essv5037630,essv5155798,essv5153397,essv5094948,essv5041706,essv5058761,essv5095586,essv5086038,essv5160556,essv5029490,essv5119472,essv5003981,essv5063704,essv5072344,essv5047147,essv5013531,essv5160998,essv5083811,essv5134756,essv5126587,essv5033686,essv5041546,essv5107123,essv5155781,essv5128821,essv5132939,essv5094851,essv5118998,essv5053220,essv5107033,essv5058049,essv5036497,essv5067946,essv5082619,essv5156934,essv5002822,essv5147202,essv5157672,essv5094245,essv5129146,essv5083518,essv5155364,essv5155359,essv5117164,essv5022516,essv5074578,essv5091225,essv5019095,essv5109506,essv5039512,essv5017125,essv5073074,essv5062273,essv5086418,essv5007230,essv5005792,essv5113318,essv5083635,essv5086884,essv5006194,essv5065642,essv5029894,essv5032325,essv5002965,essv5061687,essv5042801,essv5104176,essv5003776,essv5046204,essv5018878,essv5105053,essv5131771,essv5155965,essv5071721,essv5146064,essv5123260,essv5124343,essv5145544,essv5031302,essv5060135,essv5139163,essv5149916,essv5136788,essv5135486,essv5006809,essv5024891,essv5041690,essv5122246,essv5008716,essv5154225,essv5010379,essv5120056,essv5069170,essv5097146,essv5032513,essv5030683,essv5136299,essv5133866,essv5133368,essv5061876,essv5047342,essv5149410,essv5148986,essv5137437,essv5002881,essv5135747,essv5038523,essv5118617,essv5089549,essv5145536,essv5027688,essv5138272,essv5157164,essv5019732,essv5116969,essv5078869,essv5026692,essv5107552,essv5143086,essv5003267,essv5064816,essv5130968,essv5134210,essv5076646,essv5003279,essv5083513,essv5075261,essv5077133,essv5092533,essv5070958,essv5018063,essv5113514,essv5094666,essv5078393,essv5092104,essv5139070,essv5026698,essv5082657,essv5032972,essv5051094,essv5045522,essv5102140,essv5153115,essv5105033,essv5037886,essv5077906,essv5052687,essv5142062,essv5088804,essv5094739,essv5015634,essv5072775,essv5026999,essv5038565,essv5113274,essv5118729,essv5105799,essv5103468,essv5034763,essv5158858,essv5150607,essv5063898,essv5015713,essv5152889,essv5004144,essv5098618,essv5034425,essv5052542,essv5036299,essv5046670,essv5062832,essv5118555,essv5055760,essv5085759,essv5134167,essv5145128,essv5019627,essv5081977,essv5023575,essv5112809 M 1184 0 530 "" NA06984,NA06986,NA06989,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07045,NA07055,NA07345,NA07346,NA07347,NA07348,NA07349,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10846,NA10850,NA10852,NA10853,NA10854,NA10856,NA10865,NA11829,NA11830,NA11831,NA11832,NA11840,NA11882,NA11891,NA11893,NA11917,NA11918,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12145,NA12146,NA12154,NA12155,NA12234,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12286,NA12335,NA12340,NA12343,NA12375,NA12376,NA12383,NA12399,NA12400,NA12413,NA12489,NA12707,NA12740,NA12748,NA12749,NA12750,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12815,NA12817,NA12827,NA12842,NA12864,NA12865,NA12872,NA12873,NA12874,NA12877,NA12889,NA12890,NA17965,NA17966,NA17968,NA17969,NA17970,NA17972,NA17975,NA17977,NA17979,NA17981,NA17982,NA17986,NA17987,NA17988,NA17989,NA17990,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18108,NA18109,NA18114,NA18118,NA18122,NA18124,NA18125,NA18127,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18139,NA18140,NA18143,NA18146,NA18147,NA18148,NA18149,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18499,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18558,NA18559,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18613,NA18615,NA18616,NA18617,NA18619,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18636,NA18637,NA18639,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18757,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18914,NA18940,NA18943,NA18944,NA18946,NA18949,NA18951,NA18953,NA18957,NA18959,NA18961,NA18963,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18976,NA18977,NA18978,NA18980,NA18981,NA18991,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19005,NA19009,NA19010,NA19056,NA19057,NA19059,NA19060,NA19063,NA19064,NA19065,NA19070,NA19072,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19084,NA19085,NA19116,NA19120,NA19128,NA19129,NA19130,NA19132,NA19143,NA19146,NA19152,NA19159,NA19174,NA19178,NA19180,NA19182,NA19193,NA19194,NA19204,NA19213,NA19223,NA19236,NA19256,NA19308,NA19309,NA19315,NA19327,NA19371,NA19375,NA19377,NA19381,NA19382,NA19390,NA19393,NA19396,NA19397,NA19403,NA19446,NA19448,NA19467,NA19472,NA19652,NA19654,NA19656,NA19661,NA19675,NA19685,NA19701,NA19702,NA19708,NA19711,NA19713,NA19718,NA19722,NA19748,NA19749,NA19750,NA19770,NA19772,NA19773,NA19774,NA19775,NA19788,NA19790,NA19795,NA19835,NA19916,NA19983,NA19985,NA20126,NA20128,NA20287,NA20289,NA20290,NA20295,NA20341,NA20342,NA20343,NA20347,NA20357,NA20358,NA20504,NA20506,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20522,NA20530,NA20534,NA20538,NA20539,NA20541,NA20586,NA20754,NA20756,NA20757,NA20760,NA20761,NA20765,NA20768,NA20769,NA20770,NA20772,NA20773,NA20775,NA20783,NA20786,NA20787,NA20797,NA20801,NA20805,NA20806,NA20807,NA20809,NA20810,NA20813,NA20815,NA20818,NA20819,NA20828,NA20849,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20874,NA20875,NA20877,NA20879,NA20881,NA20883,NA20884,NA20885,NA20888,NA20889,NA20891,NA20894,NA20895,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20906,NA20907,NA20908,NA20909,NA20910,NA21086,NA21097,NA21098,NA21100,NA21101,NA21103,NA21104,NA21106,NA21109,NA21111,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21142,NA21143,NA21295,NA21302,NA21303,NA21311,NA21318,NA21333,NA21336,NA21353,NA21356,NA21357,NA21359,NA21360,NA21361,NA21365,NA21366,NA21368,NA21371,NA21378,NA21385,NA21386,NA21391,NA21414,NA21424,NA21435,NA21439,NA21447,NA21448,NA21453,NA21457,NA21473,NA21486,NA21487,NA21493,NA21494,NA21509,NA21510,NA21521,NA21523,NA21525,NA21529,NA21575,NA21576,NA21578,NA21583,NA21596,NA21597,NA21599,NA21601,NA21617,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21719,NA21722,NA21723,NA21733,NA21784,NA21826 nsv442758 19 5461239 5464062 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28518 19 5461246 5461694 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18302 S 451 2 0 "" NA11995,NA15510 nsv514899 19 5461248 5461599 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627192 S 1414 0 0 "" dgv3693n71 19 5495085 5894306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910893,nsv910897 M 6533 0 3 C19orf70,CAPS,DUS3L,FUT3,FUT5,FUT6,HSD11B1L,LONP1,NDUFA11,NRTN,PLAC2,PRR22,RANBP3,RPL36,SAFB,SAFB2,TMEM146,VMAC IS37646,MS10311,MS17208 nsv2395 19 5564173 5595273 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10173 S 9 1 0 SAFB,SAFB2 NA18956 esv275346 19 5588876 5602877 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586181,essv2585847 M 1250 1 1 SAFB nsv910894 19 5600605 5694824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576979,nssv1544344,nssv1592429 M 6533 0 3 C19orf70,HSD11B1L,LONP1,RPL36,SAFB,TMEM146 IS34304,IS39233,MS16315 dgv3694n71 19 5600605 5802336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910895,nsv910896 M 6533 0 3 C19orf70,DUS3L,FUT3,FUT6,HSD11B1L,LONP1,NRTN,PRR22,RPL36,SAFB,TMEM146 MS10769,MS16153,MS18276 dgv3695n71 19 5626496 5685239 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910898,nsv910899 M 6533 0 2 C19orf70,HSD11B1L,LONP1,RPL36,TMEM146 SP54956,SP54988 nsv516021 19 5645630 5655353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665767,nssv681997 M 2026 0 2 LONP1 nsv470119 19 5647146 5751273 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546452 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DUS3L,LONP1,PRR22,TMEM146 HGDP00323 nsv521656 19 5655353 5662217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698274 S 2026 0 1 LONP1 nsv525707 19 5694824 5751273 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701869 S 2026 0 1 DUS3L,PRR22,TMEM146 esv1495928 19 5712630 5712630 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264021 S 2 1 0 TMEM146 HuRef dgv3696n71 19 5732998 5766254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910900,nsv910902 M 6533 0 2 DUS3L,PRR22 SP54725,SP55021 nsv910901 19 5732998 5787964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510276 S 6533 0 1 DUS3L,FUT6,NRTN,PRR22 SP54956 nsv817812 19 5736113 5751273 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417278 S 112 0 1 DUS3L NA18608 esv1024134 19 5738224 5738224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914868 S 2 1 0 DUS3L HuRef esv1693395 19 5738236 5738236 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884332 S 2 1 0 DUS3L HuRef esv1936758 19 5746979 5747553 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883317 S 1 0 1 "" NA18507 nsv828411 19 5766105 5767971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424659 S 31 0 1 "" NA18582 nsv910903 19 5781447 5792356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505122,nssv1508266,nssv1502132 M 6533 0 3 FUT6 SP51051,SP53060,SP54635 nsv910904 19 5802801 5869207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597358 S 6533 0 1 CAPS,FUT5,NDUFA11,RANBP3,VMAC IS40799 esv1656692 19 5812237 5812287 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181137 S 2 0 1 "" HuRef nsv482210 19 5816838 5821551 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558571 S 1 1 0 FUT5 KB1 nsv910905 19 5818913 5894306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579032 S 6533 0 1 CAPS,FUT5,NDUFA11,RANBP3,VMAC IS35007 nsv910906 19 5832194 5866594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510277 S 6533 0 1 CAPS,NDUFA11,VMAC SP54956 nsv910907 19 5832194 5966066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592430 S 6533 0 1 CAPS,NDUFA11,RANBP3,RFX2,VMAC IS39233 esv27099 19 5855363 5855863 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13510 S 451 0 1 VMAC NA12239 nsv910908 19 5935815 5960445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510278 S 6533 0 1 RFX2 SP54956 nsv910909 19 5993059 6081661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582096 S 6533 0 1 RFX2 IS35788 esv2574381 19 6083977 6084094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382391 S 1 0 1 "" NA18507 esv2543418 19 6102922 6104480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378442 S 1 0 1 ACSBG2 NA18507 esv2154244 19 6103116 6103744 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831915 S 1 0 1 ACSBG2 NA18507 esv3187 19 6103223 6103630 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25628 S 1 0 1 Single Asian sample YH ACSBG2 YH esv2458578 19 6113981 6115785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388876 S 1 0 1 ACSBG2 NA18507 nsv910910 19 6126936 6246863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592431 S 6533 0 1 ACSBG2,MLLT1 IS39233 nsv910911 19 6126936 6352588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543782 S 6533 0 1 ACER1,ACSBG2,ALKBH7,CLPP,GTF2F1,MLLT1,PSPN MS16153 dgv3697n71 19 6156825 6241706 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910912,nsv910913 M 6533 0 3 MLLT1 IS37172,MS18276,SP54956 nsv2396 19 6183834 6201641 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7426 S 9 1 0 MLLT1 NA12156 esv991625 19 6187612 6192153 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565683 S 3 0 1 MLLT1 HuRef nsv2397 19 6252390 6285220 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5720 S 9 1 0 ACER1 NA19129 nsv2399 19 6256705 6301357 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7427 S 9 0 1 ACER1 NA12156 nsv513511 19 6269193 6269330 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625923 S 1 1 0 ACER1 1 esv2629784 19 6280457 6282879 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254052 S 1 0 1 ACER1 NA18507 dgv3698n71 19 6284476 6426613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910914,nsv910915 M 6533 0 2 ACER1,ALKBH7,CLPP,CRB3,DENND1C,GTF2F1,KHSRP,MIR3940,PSPN,SLC25A23,SLC25A41 IS32322,IS34304 nsv910916 19 6284476 6494342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549973 S 6533 0 1 ACER1,ALKBH7,CLPP,CRB3,DENND1C,GTF2F1,KHSRP,MIR3940,PSPN,SLC25A23,SLC25A41,TNFSF9,TUBB4 MS18276 dgv3699n71 19 6320709 6329125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910917,nsv910918 M 6533 0 3 ALKBH7,PSPN SP54593,SP54684,SP55019 dgv3700n71 19 6324687 6331023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910921,nsv910919,nsv910920 M 6533 0 5 ALKBH7,GTF2F1,PSPN SP54043,SP54725,SP54956,SP54988,SP55021 nsv513757 19 6326564 6339081 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627009 S 1 1 0 GTF2F1,PSPN 1 nsv833727 19 6351112 6519252 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454284 S 95 0 1 CRB3,DENND1C,KHSRP,MIR3940,SLC25A23,SLC25A41,TNFSF9,TUBB4 nsv138141 19 6362585 6362585 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156719 M 24 "" nsv910922 19 6363929 6381106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510281 S 6533 0 1 KHSRP,MIR3940,SLC25A41 SP54956 nsv910923 19 6367123 6494342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592432 S 6533 0 1 CRB3,DENND1C,KHSRP,MIR3940,SLC25A23,SLC25A41,TNFSF9,TUBB4 IS39233 esv2017710 19 6392598 6393053 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558037 S 1 0 1 SLC25A23 NA18507 nsv910924 19 6411214 6481656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547002 S 6533 0 1 CRB3,DENND1C,TUBB4 MS17208 esv2161777 19 6430158 6430599 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943301 S 1 0 1 DENND1C NA18507 nsv833728 19 6450800 6626432 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454286,nssv1454285,nssv1454288,nssv1454287 M 95 0 4 CD70,TNFSF14,TNFSF9,TUBB4 esv22875 19 6484477 6485628 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10075 S 451 0 1 TNFSF9 NA19108 nsv138022 19 6484721 6484721 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156600 M 24 TNFSF9 esv1341670 19 6499525 6499525 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848001 S 2 1 0 "" HuRef esv1514809 19 6577286 6577286 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103572 S 2 1 0 "" HuRef esv2572653 19 6581970 6582024 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242829 S 1 0 1 "" NA18507 nsv910925 19 6631510 6641571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503524 S 6533 0 1 C3 SP52077 nsv910926 19 6636304 6648406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504708 S 6533 1 0 C3 SP52708 dgv3701n71 19 6641276 6653022 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910930,nsv910927 M 6533 2 0 C3 SP52077,SP54442 nsv910928 19 6641276 6673022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506618 S 6533 1 0 C3 SP54381 dgv3702n71 19 6641982 6647672 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910929,nsv910931 M 6533 2 0 C3 SP54614,SP54650 nsv910932 19 6643796 6646001 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507985 S 6533 1 0 C3 SP54620 esv33172 19 6644142 6645818 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96973 S 51 1 0 C3 21817 esv2265092 19 6644870 6645368 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854949 S 1 0 1 C3 NA18507 nsv470120 19 6653246 6711974 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546454 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3,GPR108,SH2D3A,TRIP10 HGDP00697 dgv3703n71 19 6653246 6725069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910934,nsv910933,nsv910935 M 6533 0 4 C3,GPR108,SH2D3A,TRIP10,VAV1 IS37172,IS37646,MS16153,MS18276 dgv14e196 19 6661065 6937831 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422507,esv2422461,esv2422286 M 181 3 0 C3,EMR1,EMR4P,GPR108,SH2D3A,TRIP10,VAV1 ND01205,ND01570,ND03660 esv5110 19 6661126 6661369 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27551 S 1 0 1 Single Asian sample YH C3 YH dgv3704n71 19 6663419 6669387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910937,nsv910936 M 6533 0 2 C3 SP55699,SP56846 dgv3705n71 19 6663419 6673022 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910938,nsv910939 M 6533 2 0 C3 SP54614,SP54650 nsv910940 19 6673635 6711974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511036 S 6533 0 1 GPR108,SH2D3A,TRIP10 SP54988 nsv519827 19 6681855 6718743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697072 S 2026 0 1 GPR108,SH2D3A,TRIP10 nsv910941 19 6683982 6705774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508109 S 6533 0 1 GPR108,SH2D3A,TRIP10 SP54725 nsv910942 19 6690278 6718743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510282 S 6533 0 1 SH2D3A,TRIP10 SP54956 nsv519561 19 6696105 6725069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691061,nssv672591,nssv656886,nssv691521,nssv692917,nssv688524,nssv690240 M 2026 0 7 SH2D3A,TRIP10,VAV1 dgv136e55 19 6771951 7063270 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751807,esv2751808 M 771 2 0 EMR1,EMR4P,FLJ25758,INSR,MBD3L2,MBD3L3,MBD3L4,MBD3L5,VAV1,ZNF557 BEC_817,SPC_87 nsv529046 19 6773219 6783880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705762 S 2026 0 1 VAV1 nsv833729 19 6783400 6928162 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454292,nssv1454291,nssv1454290,nssv1454289 M 95 0 4 EMR1,EMR4P,VAV1 nsv510752 19 6802086 6867793 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620113 S 4 0 1 EMR1,VAV1 NA15510 esv29628 19 6804075 6837794 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18701 S 451 1 0 VAV1 NA19099 nsv442451 19 6805266 6833431 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 VAV1 nsv910943 19 6813498 6872868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584490 S 6533 1 0 EMR1 IS37044 nsv910944 19 6838736 6870529 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507034 S 6533 1 0 EMR1 SP54456 dgv392n27 19 6846866 6951401 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458333,nsv458344 M 1557 2 0 EMR1,EMR4P 1782681287_A,NINDS_66 nsv517794 19 6846866 7056136 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698763,nssv653282,nssv690326,nssv685247,nssv682554 M 2026 4 1 EMR1,EMR4P,FLJ25758,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 dgv393n27 19 6846866 7063593 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458337,nsv458342,nsv458343,nsv458338 M 1557 4 0 EMR1,EMR4P,FLJ25758,INSR,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 1780854184_A,HGDP00160,NINDS_231,NINDS_236 esv2751809 19 6847380 7787030 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984574,essv6984573,essv6984572,essv6984571,essv6987626,essv6987625 M 771 1 0 ARHGEF18,C19orf45,C19orf59,C19orf79,CAMSAP3,CD209,CLEC4G,CLEC4GP1,CLEC4M,EMR1,EMR4P,FCER2,FLJ25758,INSR,LOC100128573,MBD3L2,MBD3L3,MBD3L4,MBD3L5,MCOLN1,PCP2,PEX11G,PNPLA6,RETN,STXBP2,TRAPPC5,XAB2,ZNF358,ZNF557 BEC_720 esv33729 19 6849585 7060545 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95536,essv93187 M 51 1 1 EMR1,EMR4P,FLJ25758,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 21847,22170 dgv3706n71 19 6849681 6873735 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910946,nsv910945 M 6533 4 0 EMR1 IS31225,IS33547,IS35277,IS39660 esv1597449 19 6874865 6874865 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680528 S 2 1 0 EMR1 HuRef nsv910947 19 6892867 6947509 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594012 S 6533 1 0 EMR4P IS39660 dgv3707n71 19 6892867 6992843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910950,nsv910948 M 6533 3 0 EMR4P,FLJ25758,MBD3L4,MBD3L5 IS31225,IS33547,SP54456 dgv3708n71 19 6892867 7063593 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910951,nsv910949 M 6533 3 0 EMR4P,FLJ25758,INSR,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 IS35277,IS37415,SP55417 esv2751810 19 6902567 7034629 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981132,essv6981131 M 771 0 1 EMR4P,FLJ25758,MBD3L2,MBD3L3,MBD3L4,MBD3L5,ZNF557 BEC_355 dgv394n27 19 6909134 6951401 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458346,nsv458345 M 1557 0 2 EMR4P HGDP01078,HGDP01147 esv2751811 19 6909134 6962766 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982870,essv6982869,essv6989693 M 771 0 1 EMR4P,FLJ25758 BEC_606 dgv3709n71 19 6919186 6947509 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910952,nsv910953 M 6533 0 2 EMR4P SP50179,SP55750 nsv910954 19 6935708 6992843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515674 S 6533 0 1 EMR4P,FLJ25758,MBD3L4,MBD3L5 SP56238 esv27190 19 6937108 6942858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12750 S 451 0 1 EMR4P NA11894 esv2425378 19 6937193 6938841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363965 S 1 0 1 EMR4P NA18507 nsv513512 19 6946469 6946659 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625924 S 1 1 0 "" 1 dgv570n67 19 6956280 6957774 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828414,nsv828413,nsv828412 M 31 0 7 FLJ25758 AK20,NA18547,NA18592,NA18942,NA18947,NA18972,NA18973 esv24114 19 6969530 7014213 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19303 S 451 8 1 MBD3L2,MBD3L3,MBD3L4,MBD3L5 NA12287,NA12749,NA12776,NA18858,NA18861,NA18907,NA18916,NA19099,NA19240 nsv821572 19 6969530 7014213 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420032 S 1 1 0 MBD3L2,MBD3L3,MBD3L4,MBD3L5 NA10851 nsv510880 19 6981192 6991585 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618680 S 4 0 0 MBD3L4,MBD3L5 CHM nsv910955 19 6992843 7063593 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594013 S 6533 1 0 INSR,MBD3L2,MBD3L3,ZNF557 IS39660 nsv482211 19 7000351 7002746 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558572 S 1 1 0 MBD3L2 KB1 esv1736341 19 7004602 7004679 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989894 S 2 0 1 "" HuRef nsv828415 19 7014141 7014880 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430618 S 31 0 1 "" NA18968 nsv521213 19 7054542 7117109 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694424 S 2026 1 0 INSR esv8061 19 7055549 7055610 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30502 S 1 1 0 "" SJK esv7638 19 7058347 7058527 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30079 S 1 0 1 "" SJK nsv458347 19 7063593 7156240 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535290 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations INSR HGDP01102 esv2568778 19 7081450 7082235 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193772 S 1 1 0 INSR NA18507 esv1122975 19 7083747 7083747 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587829 S 2 1 0 INSR HuRef esv2600509 19 7103824 7104538 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199921 S 1 1 0 INSR NA18507 esv1602115 19 7104224 7104329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357332 S 2 0 1 INSR HuRef nsv910956 19 7118817 7202842 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564393 S 6533 1 0 INSR IS30204 nsv521868 19 7147565 7155470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694640 S 2026 0 1 INSR esv259606 19 7162839 7163133 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393997,essv2394270 M 6 0 0 Samples from several populations that are part of the HapMap project. INSR NA19239,NA19240 esv259876 19 7162849 7163175 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397717,essv2397811,essv2396475,essv2396146,essv2400064,essv2398210,essv2395160,essv2394871,essv2399754,essv2396394,essv2399681,essv2397037,essv2400491 M 144 0 0 Samples from several populations that are part of the HapMap project. INSR NA18502,NA18505,NA18517,NA18523,NA18861,NA18909,NA19108,NA19114,NA19129,NA19138,NA19210,NA19239,NA19240 nsv524177 19 7169382 7174848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700058 S 2026 0 1 INSR dgv395n27 19 7182644 7220321 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458348,nsv458349 M 1557 2 0 INSR HGDP01234,HGDP01240 esv1934161 19 7197680 7198233 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735101 S 1 0 1 INSR NA18507 esv9300 19 7197814 7198063 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31741 S 1 0 1 INSR SJK esv26586 19 7202000 7203818 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21035 S 451 0 1 INSR NA18861 esv1005113 19 7206770 7215632 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564613 S 3 0 1 INSR HuRef nsv510753 19 7236661 7318398 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620114,nssv622742,nssv618958 M 4 0 3 INSR NA10860,NA15510,NA18994 esv2083377 19 7330136 7330573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543048 S 1 0 1 "" NA18507 esv5225 19 7332862 7333182 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27666 S 1 0 1 Single Asian sample YH "" YH nsv442452 19 7357300 7360022 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509719 19 7361579 7455797 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619743,nssv623749,nssv621059 M 4 3 0 ARHGEF18,LOC100128573,PEX11G NA10860,NA15510,NA18994 esv28715 19 7388902 7390874 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12896 S 451 0 1 ARHGEF18 NA19257 nsv910957 19 7393313 7540112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573966 S 6533 0 1 ARHGEF18,C19orf45,LOC100128573,MCOLN1,PEX11G,PNPLA6,ZNF358 IS33504 esv22545 19 7420520 7422227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20818,esv18928 M 451 0 6 ARHGEF18 NA07045,NA12004,NA12287,NA12414,NA18909,NA19147 nsv821186 19 7421216 7422227 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420033 S 1 1 0 ARHGEF18 NA10851 esv3821 19 7421297 7421657 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26262 S 1 0 0 Single Asian sample YH ARHGEF18 YH esv9482 19 7421706 7421807 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31923 S 1 1 0 ARHGEF18 SJK nsv910958 19 7422243 7475282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510283 S 6533 0 1 ARHGEF18,C19orf45,LOC100128573,PEX11G SP54956 nsv910959 19 7435491 7464024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511037 S 6533 0 1 ARHGEF18,LOC100128573,PEX11G SP54988 dgv3710n71 19 7444117 7540112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910961,nsv910960 M 6533 0 2 C19orf45,LOC100128573,MCOLN1,PEX11G,PNPLA6,ZNF358 MS10311,MS17208 nsv2400 19 7452483 7483823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2205 S 9 1 0 C19orf45,PEX11G NA18555 nsv828416 19 7454529 7490087 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435543 S 31 0 1 C19orf45,PEX11G,ZNF358 NA18942 nsv910962 19 7467996 7517117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586059 S 6533 0 1 C19orf45,MCOLN1,PNPLA6,ZNF358 IS37646 nsv910963 19 7467996 7540112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573099 S 6533 0 1 C19orf45,MCOLN1,PNPLA6,ZNF358 IS33239 dgv3711n71 19 7477775 7499589 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910964,nsv910965,nsv910966,nsv910967 M 6533 0 5 C19orf45,MCOLN1,ZNF358 SP51109,SP54725,SP54956,SP54988,SP55021 nsv833730 19 7480391 7604483 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454293 S 95 0 1 C19orf79,CAMSAP3,MCOLN1,PCP2,PNPLA6,XAB2,ZNF358 dgv3712n71 19 7500159 7599814 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910978,nsv910968 M 6533 0 2 CAMSAP3,MCOLN1,PNPLA6,XAB2 IS33797,IS35484 nsv910969 19 7508421 7540112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592433,nssv1544345,nssv1549975 M 6533 0 3 PNPLA6 IS39233,MS16315,MS18276 nsv910970 19 7508421 7687435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543784 S 6533 0 1 C19orf59,C19orf79,CAMSAP3,FCER2,PCP2,PNPLA6,RETN,STXBP2,TRAPPC5,XAB2 MS16153 dgv3713n71 19 7513023 7530079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910971,nsv910972 M 6533 0 2 PNPLA6 IS34304,MS11054 dgv3714n71 19 7517117 7540112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910977,nsv910976,nsv910973 M 6533 0 5 PNPLA6 IS31656,IS32737,IS32841,IS38176,IS41634 nsv910974 19 7517117 7553709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574637 S 6533 0 1 PNPLA6 IS33601 nsv910975 19 7522585 7531366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575202 S 6533 0 1 PNPLA6 IS33684 nsv516576 19 7553709 7561810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673996,nssv692427,nssv669276,nssv657478 M 2026 0 4 "" esv24715 19 7554267 7558758 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20548 S 451 6 0 "" NA11995,NA12287,NA12749,NA12828,NA18909,NA19129 nsv821615 19 7554267 7558758 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420034 S 1 0 1 "" NA10851 nsv833731 19 7560000 7710217 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454294,nssv1454295 M 95 0 2 C19orf59,C19orf79,CAMSAP3,CLEC4G,FCER2,PCP2,RETN,STXBP2,TRAPPC5,XAB2 nsv910979 19 7563100 7625758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510285 S 6533 0 1 C19orf79,CAMSAP3,PCP2,STXBP2,XAB2 SP54956 esv993190 19 7586513 7600252 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565418 S 3 0 1 CAMSAP3,XAB2 HuRef nsv833732 19 7643542 7842215 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454296 S 95 1 0 C19orf59,CD209,CLEC4G,CLEC4GP1,CLEC4M,EVI5L,FCER2,FLJ22184,TRAPPC5 esv2405737 19 7659634 7660038 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915792 S 1 0 1 FCER2 NA18507 esv26340 19 7660964 7669062 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17249,esv9972 M 451 4 0 FCER2 NA06985,NA11993,NA12044,NA12878 esv8285 19 7662006 7662100 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30726 S 1 1 0 FCER2 SJK esv8263 19 7662854 7663313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30704 S 1 0 1 FCER2 SJK nsv828417 19 7687037 7689934 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425414 S 31 0 1 "" AK2 esv1566474 19 7710024 7710024 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692657 S 2 1 0 "" HuRef esv1300284 19 7736868 7737006 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268066 S 2 0 1 CLEC4M HuRef nsv910980 19 7754679 7841716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572709 S 6533 0 1 CLEC4GP1,EVI5L,FLJ22184 IS33162 dgv3715n71 19 7754679 8023308 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910981,nsv910982,nsv910983 M 6533 0 4 CLEC4GP1,CTXN1,ELAVL1,EVI5L,FLJ22184,LOC388499,LOC645781,LRRC8E,MAP2K7,SNAPC2,TIMM44 IS33504,IS33684,IS39233,IS41243 nsv833733 19 7770115 7966138 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454297 S 95 1 0 CTXN1,ELAVL1,EVI5L,FLJ22184,LOC388499,LOC645781,LRRC8E,MAP2K7,SNAPC2,TIMM44 nsv138066 19 7777007 7777718 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156644 M 24 "" nsv525499 19 7800732 7827623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701631 S 2026 0 1 EVI5L nsv910984 19 7806562 7876635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538451 S 6533 0 1 EVI5L,FLJ22184,LOC388499,LRRC8E,MAP2K7 MS13727 nsv910985 19 7815883 7841716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511039,nssv1500612 M 6533 0 2 EVI5L,FLJ22184 SP50159,SP54988 nsv910986 19 7822475 7863481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510286 S 6533 0 1 EVI5L,FLJ22184,LOC388499,LRRC8E SP54956 esv22487 19 7840856 7842869 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19511 S 451 2 0 FLJ22184 NA12044,NA12156 nsv138067 19 7841786 7841854 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156645 M 24 FLJ22184 esv1656337 19 7841878 7841947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694893 S 2 0 1 FLJ22184 HuRef dgv3716n71 19 7842208 7992055 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910987,nsv910991,nsv910992,nsv910988 M 6533 0 4 CTXN1,ELAVL1,FLJ22184,LOC388499,LOC645781,LRRC8E,MAP2K7,SNAPC2,TIMM44 IS34235,IS34304,MS17208,SP54956 esv1221839 19 7849005 7849065 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213223 S 2 0 1 "" HuRef nsv137988 19 7849035 7849096 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156566 M 24 "" nsv910989 19 7871339 7904733 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511040 S 6533 0 1 CTXN1,LOC645781,LRRC8E,MAP2K7,SNAPC2,TIMM44 SP54988 nsv828418 19 7872181 7873575 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430629 S 31 1 0 LRRC8E NA18968 nsv828419 19 7872839 7873575 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422108 S 31 1 0 LRRC8E NA18969 nsv910990 19 7876635 7899806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507470 S 6533 0 1 CTXN1,LOC645781,MAP2K7,SNAPC2,TIMM44 SP54725 nsv828421 19 7884580 7885343 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422119 S 31 1 0 MAP2K7 NA18969 nsv910993 19 7885496 7903575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501847 S 6533 0 1 CTXN1,LOC645781,SNAPC2,TIMM44 SP51109 nsv819168 19 7893541 7894369 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419098 S 2 0 1 SNAPC2 AK1 nsv833734 19 7931450 8109195 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454299,nssv1454298,nssv1454301,nssv1454300 M 95 0 4 CCL25,ELAVL1,FBN3 nsv138435 19 7932342 7932342 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157013 M 24 ELAVL1 nsv910994 19 7958646 8072377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586060 S 6533 0 1 CCL25,ELAVL1,FBN3 IS37646 nsv910995 19 8018622 8044054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547005 S 6533 0 1 CCL25,FBN3 MS17208 esv1497112 19 8025874 8026356 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931034 S 2 0 1 CCL25 HuRef esv1031279 19 8056951 8056951 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096826 S 2 1 0 FBN3 HuRef esv1156835 19 8069415 8069481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167257 S 2 0 1 FBN3 HuRef nsv469677 19 8072714 8276904 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649607 M 265 0 2 Samples from several populations that are part of the HapMap project. CD320,CERS4,FBN3 nsv518595 19 8082640 8083620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696042 S 2026 0 1 FBN3 nsv498889 19 8097310 8100047 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585750 S 9 0 1 FBN3 nsv526669 19 8120970 8177721 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702999 S 2026 1 0 "" nsv511614 19 8148511 8153444 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626245 S 1 0 1 "" 1 nsv518135 19 8148511 8177721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695552 S 2026 0 1 "" nsv512560 19 8148611 8151054 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625168 S 1 0 1 "" 1 esv2522363 19 8148713 8151916 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262905 S 1 0 1 "" NA18507 esv2296361 19 8148847 8151102 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551798 S 1 0 1 "" NA18507 esv5937 19 8148966 8151038 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28378 S 1 0 1 "" SJK esv27803 19 8149075 8150643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14807 S 451 0 3 "" NA07037,NA18909,NA19147 nsv9664 19 8179323 8181207 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27255 S 31 1 0 Samples from several populations that are part of the HapMap project. CERS4 NA19132 dgv3717n71 19 8219334 8253237 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv910996,nsv910997 M 6533 2 0 CERS4 IS35470,IS38099 dgv3718n71 19 8226890 8324902 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv910998,nsv910999 M 6533 0 2 CD320,CERS4,KANK3,NDUFA7,RPS28 IS39233,MS17208 nsv2401 19 8229484 8291544 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10987,nssv9853,nssv10174,nssv6768,nssv9333,nssv1432,nssv4339,nssv2206,nssv5721 M 9 0 9 CD320,CERS4,NDUFA7 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv169 19 8237615 8276742 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv169 S 1 0 1 CD320 NA15510 esv991034 19 8241073 8273131 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564831 S 3 0 1 CD320 HuRef nsv436256 19 8241693 8258798 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465658 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv9665 19 8242830 8272717 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27693,nssv24766 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18860 esv23344 19 8243134 8272327 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15628 S 451 2 0 "" NA18523,NA18907 nsv820790 19 8243134 8272327 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420035 S 1 0 1 "" NA10851 nsv442759 19 8256197 8271067 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv498890 19 8257599 8272564 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585751 S 9 0 1 "" nsv524436 19 8273158 8276921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700366 S 2026 0 1 CD320 dgv3719n71 19 8292998 8438219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911000,nsv911002 M 6533 0 2 ANGPTL4,HNRNPM,KANK3,LOC100507567,MARCH2,RAB11B,RPS28 IS33601,IS34908 nsv911001 19 8300092 8392218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510288 S 6533 0 1 ANGPTL4,KANK3,LOC100507567,MARCH2,RAB11B SP54956 nsv512561 19 8316785 8321227 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625169 S 1 0 1 "" 1 esv24806 19 8318084 8319600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11249 S 451 0 1 "" NA12044 nsv911003 19 8337581 8392218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511041 S 6533 0 1 ANGPTL4,LOC100507567,MARCH2,RAB11B SP54988 nsv911004 19 8342164 8492086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599157 S 6533 0 1 ANGPTL4,HNRNPM,LOC100507567,MARCH2,MYO1F,PRAM1,RAB11B,ZNF414 IS41410 esv28519 19 8360839 8362179 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20646 S 451 0 1 LOC100507567,RAB11B NA12239 nsv911005 19 8371303 8392218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511584 S 6533 0 1 MARCH2,RAB11B SP55021 nsv513514 19 8393718 8393912 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625927 S 1 1 0 MARCH2 1 esv2335907 19 8420236 8420913 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703084 S 1 0 1 HNRNPM NA18507 esv4060 19 8420394 8420865 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26501 S 1 0 1 Single Asian sample YH HNRNPM YH esv989310 19 8420410 8420716 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578673 S 3 0 1 HNRNPM HuRef esv7145 19 8420421 8420696 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29586 S 1 0 1 HNRNPM SJK esv1320041 19 8420425 8420732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819331 S 2 0 1 HNRNPM HuRef dgv3720n71 19 8442373 8521268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911007,nsv911006 M 6533 0 3 HNRNPM,MYO1F,PRAM1,ZNF414 IS35484,IS39233,SP54956 dgv3721n71 19 8454175 8501254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911008,nsv911010,nsv911009 M 6533 0 3 HNRNPM,MYO1F,PRAM1,ZNF414 SP54043,SP54988,SP55021 nsv458350 19 8454175 8503865 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535293 S 1557 0 1 HNRNPM,MYO1F,PRAM1,ZNF414 1782681247_A dgv396n27 19 8458273 8535500 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458353,nsv458351,nsv458354 M 1557 0 3 HNRNPM,MYO1F,PRAM1,ZNF414 1780862300_A,1780862306_A,1780862415_A nsv137944 19 8470336 8470336 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156522 M 24 PRAM1 dgv3722n71 19 8470523 8496919 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911011,nsv911015,nsv911014,nsv911016 M 6533 0 5 MYO1F,PRAM1,ZNF414 SP51109,SP54593,SP54672,SP55264,SP80988 dgv3723n71 19 8473265 8486602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911017,nsv911012,nsv911013 M 6533 0 4 PRAM1,ZNF414 SP54042,SP54684,SP54808,SP55056 esv269938 19 8496475 8496560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514339 S 157 1 0 Samples from several populations that are part of the HapMap project. MYO1F NA12874 nsv528946 19 8535500 8538587 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705638 S 2026 0 1 MYO1F nsv911018 19 8545093 8566004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510290 S 6533 0 1 ADAMTS10,MYO1F SP54956 nsv469747 19 8621093 8774315 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649768 M 265 52 1 Samples from several populations that are part of the HapMap project. ACTL9,OR2Z1 nsv471705 19 8621094 8774315 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550354,nssv550355,nssv550346,nssv550363,nssv550362,nssv550351,nssv550360,nssv550361,nssv550349,nssv550365,nssv550345,nssv550344,nssv550358,nssv550367,nssv550347,nssv550366,nssv550357,nssv550350,nssv550359,nssv550356,nssv550348,nssv550352,nssv550353,nssv550364 M 48 22 2 ACTL9,OR2Z1 JK1061,NA10469,NA10470,NA10471,NA10472,NA10493,NA10969,NA10970,NA10971,NA11323,NA11521,NA11523,NA15725,NA15726,NA15727,NA15728,NA15730,NA15732,NA16688,NA16689,NA17020,NA17052,NA17058,NA17059 esv1747794 19 8626738 8626880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007426 S 2 0 1 "" HuRef nsv137974 19 8626746 8626870 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156552 M 24 "" esv3345 19 8626913 8627111 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25786 S 1 0 1 Single Asian sample YH "" YH esv2609798 19 8633139 8634818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356447 S 1 0 1 "" NA18507 esv1186366 19 8634087 8634377 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610655 S 2 0 1 "" HuRef nsv833735 19 8665783 8736725 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454310,nssv1454342,nssv1454334,nssv1454335,nssv1454337,nssv1454339,nssv1454338,nssv1454340,nssv1454304,nssv1454348,nssv1454303,nssv1454309,nssv1454343,nssv1454302,nssv1454347,nssv1454344,nssv1454308,nssv1454346,nssv1454305,nssv1454336,nssv1454307,nssv1454306,nssv1454345,nssv1454311,nssv1454349,nssv1454314,nssv1454316,nssv1454321,nssv1454313,nssv1454312,nssv1454315,nssv1454320,nssv1454319,nssv1454333,nssv1454318,nssv1454317,nssv1454332,nssv1454322,nssv1454355,nssv1454325,nssv1454352,nssv1454324,nssv1454350,nssv1454323,nssv1454351,nssv1454354,nssv1454326,nssv1454353,nssv1454330,nssv1454327,nssv1454328,nssv1454341,nssv1454329,nssv1454331 M 95 52 2 ACTL9,OR2Z1 nsv469648 19 8669454 8825625 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649575 M 265 79 16 Samples from several populations that are part of the HapMap project. ACTL9,MBD3L1,MUC16,OR2Z1,ZNF558 esv2559420 19 8677224 8680932 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248937 S 1 0 1 "" NA18507 esv1597658 19 8678583 8678583 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629933 S 2 1 0 "" HuRef nsv833737 19 8681094 8714315 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454396,nssv1454365,nssv1454391,nssv1454371,nssv1454361,nssv1454388,nssv1454359,nssv1454357,nssv1454386,nssv1454387,nssv1454378,nssv1454410,nssv1454364,nssv1454393,nssv1454362,nssv1454363,nssv1454390,nssv1454389,nssv1454395,nssv1454369,nssv1454366,nssv1454368,nssv1454367,nssv1454370,nssv1454392,nssv1454397,nssv1454409,nssv1454400,nssv1454373,nssv1454399,nssv1454358,nssv1454398,nssv1454372,nssv1454403,nssv1454401,nssv1454376,nssv1454408,nssv1454402,nssv1454404,nssv1454375,nssv1454407,nssv1454374,nssv1454377,nssv1454406,nssv1454405,nssv1454411,nssv1454414,nssv1454385,nssv1454379,nssv1454413,nssv1454360,nssv1454412,nssv1454356,nssv1454383,nssv1454415,nssv1454384,nssv1454382,nssv1454394,nssv1454380,nssv1454381 M 95 58 2 OR2Z1 nsv2402 19 8684242 8796961 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10989,nssv1433,nssv5722,nssv2207,nssv2208,nssv6769 M 9 0 5 OR2Z1,ZNF558 NA12156,NA15510,NA18555,NA19129,NA19240 dgv571n67 19 8702687 8765913 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828425,nsv828423,nsv828422,nsv828424 M 31 12 0 OR2Z1 AK10,AK16,AK18,AK4,AK6,NA18542,NA18564,NA18570,NA18592,NA18968,NA18969,NA18973 nsv9666 19 8703659 8706686 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21485,nssv21580 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12802 nsv514906 19 8704885 8764184 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627193 S 1414 0 0 "" nsv9667 19 8704912 8765759 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25223,nssv25294,nssv24082,nssv24791,nssv24910,nssv24549,nssv24144,nssv27265,nssv21610,nssv25231,nssv27450,nssv24660,nssv26009,nssv24473,nssv26462,nssv28453,nssv21515,nssv24499,nssv25248,nssv26737,nssv25267,nssv22159,nssv24816,nssv23612,nssv21941,nssv24093 M 31 14 9 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19221 nsv2403 19 8706164 8727439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10988,nssv6771 M 9 2 0 "" NA12156,NA15510 esv24941 19 8708231 8764008 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20368,esv18482 M 451 28 4 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1146218 19 8711275 8711500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346222 S 2 0 1 "" HuRef esv1635188 19 8712861 8720323 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169934 S 2 0 1 "" HuRef nsv428362 19 8713561 8911446 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453621,nssv453646,nssv453638,nssv453650,nssv453652,nssv453644,nssv453619,nssv453651,nssv453654,nssv453639,nssv453641,nssv453649,nssv453647,nssv453648,nssv453640,nssv453637,nssv453622,nssv453636,nssv453643,nssv453645,nssv453618 M 62 15 6 MBD3L1,MUC16,ZNF558 HGDP00449,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00476,HGDP00478,HGDP00984,HGDP01087,HGDP01088,HGDP01089,HGDP01093,NA18498,NA18916,NA19113,NA19147,NA19181,NA19189,NA19225 nsv170 19 8719093 8725990 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv170 S 1 1 0 "" NA15510 nsv171 19 8721564 8796961 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv171 S 1 0 1 ZNF558 NA15510 nsv911019 19 8724306 8989937 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533235 S 6533 1 0 MBD3L1,MUC16,ZNF558 MS11057 nsv138331 19 8724851 8732344 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156909 M 24 "" nsv2404 19 8733580 8741789 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5723 S 9 1 0 "" NA19129 nsv137985 19 8733767 8740067 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156563 M 24 "" nsv2405 19 8741869 8744192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4341 S 9 1 0 "" NA12878 nsv833738 19 8743028 8784826 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454425,nssv1454427,nssv1454423,nssv1454422,nssv1454434,nssv1454433,nssv1454431,nssv1454429,nssv1454432,nssv1454428,nssv1454436,nssv1454435,nssv1454437,nssv1454430,nssv1454439,nssv1454424,nssv1454440,nssv1454443,nssv1454442,nssv1454441,nssv1454426,nssv1454421,nssv1454438,nssv1454416,nssv1454420,nssv1454417,nssv1454418,nssv1454419 M 95 28 0 ZNF558 nsv833739 19 8743145 8784792 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454456,nssv1454459,nssv1454466,nssv1454457,nssv1454465,nssv1454461,nssv1454464,nssv1454463,nssv1454462,nssv1454477,nssv1454468,nssv1454467,nssv1454471,nssv1454470,nssv1454469,nssv1454489,nssv1454473,nssv1454475,nssv1454474,nssv1454478,nssv1454481,nssv1454486,nssv1454479,nssv1454482,nssv1454483,nssv1454484,nssv1454488,nssv1454487,nssv1454446,nssv1454445,nssv1454444,nssv1454476,nssv1454460,nssv1454472,nssv1454458,nssv1454449,nssv1454447,nssv1454448,nssv1454480,nssv1454455,nssv1454451,nssv1454485,nssv1454450,nssv1454454,nssv1454453,nssv1454452 M 95 45 1 ZNF558 nsv138062 19 8745302 8750615 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156640 M 24 "" nsv828426 19 8750405 8762840 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429494,nssv1430246,nssv1440042 M 31 0 3 "" AK12,AK14,NA18537 esv33984 19 8750627 8761175 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97788,essv100562 M 51 1 1 "" 22278,22298 dgv48n68 19 8751188 8836490 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv833740,nsv833741 M 95 34 0 MBD3L1,MUC16,ZNF558 dgv1056e1 19 8758670 8832847 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14388,essv11886,essv18210,essv8836,essv1839,essv1501,essv20787,essv7422,essv3468,essv806,essv21849,essv12373,essv10242,essv6645,essv4403,essv293,essv16987,essv20261,essv3183,essv13723,essv4206,essv14522,essv18441,essv14643,essv15243,essv6628,essv12575,essv7360,essv6813,essv7572,essv8312,essv7228,essv5052,essv12822,essv15399,essv20356,essv13609,essv4503,essv8776,essv15852,essv15103,essv12168,essv10086,essv5825,essv14745,essv21347,essv4176,essv4738,essv21264,essv23844,essv18937,essv16877,essv5517,essv18417,essv14330,essv16648,essv24665,essv9594,essv2991,essv21171,essv19761,essv2778,essv11651,essv6216,essv5733,essv20006,essv15759,essv20919,essv4972,esv364,essv9066,essv5141,essv8166,essv23470,essv21711,essv9374,essv24488,essv16346,essv23064,essv5441,essv19228,essv24089,essv19970,essv8357,essv4249,essv23953,essv24558,essv12451,essv14101,essv21114,essv25013,essv19088,essv19536,essv23807,essv6367,essv6171,essv23557,essv9674,essv21524,essv44,essv12762,essv7271,essv6959,essv3784,essv22401,essv5133,essv24127,essv3704,essv260,essv18585,essv24935,essv18746,essv20646,essv22782,essv12612,essv5248,essv23592,essv14202,essv1137,essv3537,essv20169,essv164,essv7106,essv22940,essv3125,essv22221,essv3972,essv10284,essv342 M 271 0 0 MBD3L1,MUC16,ZNF558 NA06993,NA06994,NA07019,NA07022,NA07034,NA07048,NA07055,NA07357,NA10835,NA10838,NA10839,NA10847,NA10855,NA10859,NA11829,NA11830,NA11831,NA11832,NA11839,NA11992,NA12005,NA12006,NA12044,NA12057,NA12144,NA12146,NA12234,NA12236,NA12248,NA12249,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12873,NA12874,NA12875,NA12878,NA12892,NA18500,NA18506,NA18507,NA18508,NA18526,NA18529,NA18532,NA18537,NA18545,NA18547,NA18552,NA18555,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18620,NA18621,NA18623,NA18624,NA18632,NA18636,NA18637,NA18853,NA18858,NA18861,NA18913,NA18914,NA18943,NA18947,NA18948,NA18964,NA18965,NA18968,NA18969,NA18970,NA18971,NA18973,NA18976,NA18978,NA18980,NA18981,NA18987,NA18991,NA18992,NA19012,NA19092,NA19093,NA19094,NA19098,NA19101,NA19103,NA19119,NA19120,NA19127,NA19129,NA19130,NA19131,NA19132,NA19140,NA19141,NA19142,NA19144,NA19152,NA19154,NA19159,NA19193,NA19194,NA19202,NA19203,NA19205,NA19206,NA19207,NA19221,NA19223,NA19238 nsv2406 19 8854953 8864763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5724 S 9 1 0 MUC16 NA19129 esv2221846 19 8855866 8856382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580789 S 1 0 1 MUC16 NA18507 esv2117991 19 8869439 8869982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697126 S 1 0 1 MUC16 NA18507 nsv2407 19 8875808 8909190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4342 S 9 1 0 MUC16 NA12878 nsv523652 19 8901732 8957252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699453 S 2026 0 1 MUC16 nsv470123 19 8923415 8938803 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546455 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MUC16 HGDP01412 dgv198n21 19 8957252 8962672 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522984,nsv526942 M 2026 2 0 "" nsv138341 19 9026451 9026451 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156919 M 24 "" esv1492645 19 9038587 9038587 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959131 S 2 1 0 "" HuRef nsv509720 19 9044436 9160487 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623750 S 4 1 0 OR1M1,OR7D2,OR7G1,OR7G2,OR7G3,ZNF317 NA18994 nsv138381 19 9049042 9049042 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156959 M 24 "" esv1359293 19 9049260 9049260 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977787 S 2 1 0 "" HuRef nsv138506 19 9083945 9086121 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157084 M 24 "" esv27686 19 9084144 9085660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19439 S 451 0 1 "" NA19225 esv25491 19 9106106 9107371 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20347 S 451 0 1 "" NA12489 nsv911020 19 9107205 9507898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533236 S 6533 1 0 OR7D2,OR7D4,OR7E24,ZNF177,ZNF266,ZNF317,ZNF426,ZNF559,ZNF559-ZNF177,ZNF560,ZNF699 MS11057 esv275448 19 9113154 9115342 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585498,essv2585863 M 1250 1 1 ZNF317 nsv2408 19 9113723 9126325 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2209 S 9 0 1 ZNF317 NA18555 nsv2411 19 9128749 9174321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2210,nssv1434 M 9 0 2 OR7D2,ZNF317 NA18555,NA19240 nsv138312 19 9129373 9136643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156890 M 24 ZNF317 nsv911021 19 9134800 9200399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558398 S 6533 0 1 OR7D2,OR7D4,ZNF317 MS23257 esv27422 19 9135034 9145376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13642 S 451 0 6 ZNF317 NA12006,NA19108,NA19190,NA19225,NA19240,NA19257 nsv498891 19 9135510 9145364 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585752 S 9 0 1 "" esv2421989 19 9135672 9139121 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033698,essv5108011,essv5056941,essv5065726,essv5084427,essv5008636,essv5026880,essv5004022,essv5009034,essv5032705,essv5128515,essv5153299,essv5111159,essv5125122,essv5127048,essv5023586,essv5109034,essv5018205,essv5023632,essv5098001,essv5078134,essv5020508,essv5039589,essv5085520,essv5004954,essv5057807,essv5017404,essv5029071,essv5144573,essv5023955,essv5051285,essv5051959,essv5026245,essv5154195,essv5035751,essv5145352,essv5134693,essv5036419,essv5115609,essv5062948,essv5106976,essv5033799,essv5159482,essv5154390,essv5097678,essv5043792,essv5097980,essv5030371,essv5026244,essv5039304,essv5158744,essv5052658,essv5039730,essv5078220,essv5091039,essv5059628,essv5024737,essv5003835,essv5006615,essv5024345,essv5136578,essv5003014,essv5085862,essv5141321,essv5150081,essv5159583,essv5064011,essv5144283,essv5025699,essv5142635,essv5084634,essv5051250,essv5136733,essv5143630,essv5123111,essv5079979,essv5046987,essv5142800,essv5128384,essv5013150,essv5119695,essv5143380,essv5033688,essv5066920,essv5088558,essv5049701,essv5028699,essv5002616,essv5124173,essv5140956,essv5156483,essv5056220,essv5010228,essv5058684,essv5158708,essv5119609,essv5053919,essv5121925,essv5090469,essv5024026,essv5147484,essv5088849,essv5160435,essv5154187,essv5053760,essv5094021 M 1184 0 106 "" NA10854,NA10856,NA11829,NA11839,NA11918,NA12006,NA12045,NA12348,NA12751,NA12864,NA12873,NA12875,NA17980,NA18101,NA18134,NA18139,NA18150,NA18158,NA18159,NA18162,NA18499,NA18516,NA18526,NA18534,NA18544,NA18555,NA18557,NA18558,NA18563,NA18592,NA18610,NA18616,NA18619,NA18626,NA18637,NA18641,NA18647,NA18854,NA18912,NA18947,NA18949,NA18962,NA18965,NA18972,NA19000,NA19028,NA19074,NA19076,NA19088,NA19101,NA19103,NA19108,NA19119,NA19144,NA19146,NA19150,NA19151,NA19152,NA19160,NA19161,NA19176,NA19190,NA19204,NA19225,NA19239,NA19240,NA19257,NA19258,NA19328,NA19394,NA19396,NA19431,NA19448,NA19757,NA19770,NA19904,NA19908,NA19919,NA19921,NA20279,NA20281,NA20282,NA20284,NA20289,NA20301,NA20346,NA20516,NA20527,NA20528,NA20530,NA20540,NA20586,NA20752,NA20774,NA20807,NA20853,NA20862,NA20869,NA20903,NA20908,NA21097,NA21115,NA21116,NA21119,NA21143,NA21144 nsv442760 19 9135672 9139121 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv572n67 19 9138736 9145441 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828429,nsv828428,nsv828427 M 31 0 11 "" AK10,AK16,AK2,AK20,AK6,NA18526,NA18547,NA18592,NA18947,NA18949,NA18972 nsv514907 19 9139563 9145080 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628326 S 1414 0 1 "" nsv820286 19 9146251 9151308 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419678 S 2 1 0 "" AK1 dgv573n67 19 9146725 9151083 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828430,nsv828432 M 31 6 0 "" AK2,AK4,NA18564,NA18949,NA18969,NA18973 nsv516657 19 9152190 9178125 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669934,nssv680084,nssv672494,nssv696737 M 2026 4 0 OR7D2 nsv523472 19 9152190 9312577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699231 S 2026 0 1 OR7D2,OR7D4,OR7E24,ZNF559,ZNF559-ZNF177,ZNF699 nsv911022 19 9156591 9262159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552204 S 6533 0 1 OR7D2,OR7D4,OR7E24 MS19277 esv33639 19 9253140 9253284 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101323 S 51 0 1 "" 21805 nsv521091 19 9262159 9311029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681893,nssv689798,nssv694451 M 2026 0 3 ZNF559,ZNF559-ZNF177,ZNF699 nsv911023 19 9299867 9316796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501202 S 6533 0 1 ZNF559,ZNF559-ZNF177 SP51031 nsv819521 19 9310011 9310440 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418950 S 2 1 0 ZNF559,ZNF559-ZNF177 AK1 nsv2412 19 9357001 9401267 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2211 S 9 0 1 ZNF266 NA18555 nsv828433 19 9378391 9379577 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435544 S 31 0 1 "" NA18942 esv2163841 19 9380454 9380880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682850 S 1 0 1 "" NA18507 nsv911024 19 9435874 9558460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509478 S 6533 0 1 ZNF121,ZNF426,ZNF560 SP54792 esv995010 19 9446123 9448416 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564481 S 3 0 1 ZNF560 HuRef esv9552 19 9478886 9486796 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31993 S 1 0 1 "" SJK esv2080782 19 9520585 9520960 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883468 S 1 0 1 "" NA18507 nsv138179 19 9576769 9586516 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156757 M 24 ZNF561 esv994852 19 9581871 9586980 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565404 S 3 1 0 ZNF561 HuRef nsv518826 19 9671038 9729404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696279 S 2026 0 1 ZNF812,ZNF846 nsv2413 19 9715828 9742451 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5726 S 9 0 1 ZNF846 NA19129 nsv514908 19 9724418 9732091 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628327 S 1414 0 1 ZNF846 esv22853 19 9724461 9732586 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16444 S 451 0 1 ZNF846 NA19129 nsv498892 19 9724578 9732838 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585753 S 9 0 1 ZNF846 nsv520683 19 9779229 9940093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697555 S 2026 0 1 COL5A3,FBXL12,OLFM2,PIN1,UBL5 esv1298463 19 9792105 9792284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659093 S 2 0 1 "" HuRef esv33490 19 9812812 9812929 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94697,essv97421,essv97175,essv93408 M 51 0 4 PIN1 21791,21879,22075,22170 nsv833742 19 9843879 9992977 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454527,nssv1454524,nssv1454525,nssv1454526 M 95 0 4 COL5A3,OLFM2,RDH8 esv1205344 19 9941909 9942031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361738 S 2 0 1 COL5A3 HuRef esv1171542 19 9942136 9942136 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037975 S 2 1 0 COL5A3 HuRef esv2406867 19 9943339 9943776 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984664 S 1 0 1 COL5A3 NA18507 esv1756302 19 9943562 9943662 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076902 S 2 0 1 COL5A3 HuRef dgv3724n71 19 9954028 10059441 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911026,nsv911025 M 6533 3 0 C19orf66,C3P1,COL5A3,RDH8 IS30473,IS41909,MS25216 nsv911027 19 9990262 10014603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585651 S 6533 0 1 C3P1,RDH8 IS37605 nsv515879 19 9996284 9996711 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678274,nssv679779,nssv661147,nssv655936,nssv665393,nssv672351,nssv665123,nssv691454,nssv689973,nssv669557,nssv686765,nssv665587,nssv683077,nssv655117,nssv668312 M 2026 15 0 "" nsv527207 19 9996284 9998663 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703607 S 2026 1 0 "" esv2649300 19 9999971 10000026 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378781 S 1 0 1 "" NA18507 esv2558738 19 10028038 10028284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216434 S 1 0 1 C3P1 NA18507 nsv458355 19 10033516 10074154 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535298 S 1557 0 1 ANGPTL6,C19orf66,C3P1 NINDS_165 nsv2414 19 10035445 10069078 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4343 S 9 1 0 ANGPTL6,C19orf66,C3P1 NA12878 nsv833743 19 10049325 10223589 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454530,nssv1454529,nssv1454528 M 95 0 3 ANGPTL6,C19orf66,DNMT1,EIF3G,MIR4322,P2RY11,PPAN,PPAN-P2RY11,S1PR2,SNORD105,SNORD105B esv29826 19 10073175 10075414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16088 S 451 0 1 ANGPTL6 NA12749 nsv911028 19 10080076 10091328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511043 S 6533 0 1 EIF3G,P2RY11,PPAN,PPAN-P2RY11,SNORD105B SP54988 esv1001261 19 10147856 10154941 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565233 S 3 0 1 DNMT1 HuRef nsv911029 19 10182089 10305826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538744 S 6533 0 1 FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,MIR4322,MRPL4,RAVER1,S1PR2,ZGLP1 MS13770 nsv911030 19 10219460 10310202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532527 S 6533 0 1 FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,MRPL4,RAVER1,ZGLP1 MS10769 dgv3725n71 19 10219460 10531992 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911032,nsv911039,nsv911031 M 6533 0 3 ATG4D,CDC37,FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,KEAP1,KRI1,MIR1181,MIR1238,MRPL4,PDE4A,RAVER1,S1PR5,TYK2,ZGLP1 IS37646,IS39233,MS10311 nsv911033 19 10238885 10269318 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515783 S 6533 1 0 ICAM1,ICAM4,ICAM5 SP56267 nsv911034 19 10241282 10255792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515747 S 6533 1 0 ICAM1 SP56260 dgv3726n71 19 10243537 10339683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911038,nsv911036,nsv911035 M 6533 0 3 FDX1L,ICAM1,ICAM3,ICAM4,ICAM5,RAVER1,TYK2,ZGLP1 MS16153,MS17208,SP54956 nsv911037 19 10259206 10267747 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508279 S 6533 1 0 ICAM4,ICAM5 SP54614 nsv470124 19 10260904 10333933 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546457,nssv546456 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FDX1L,ICAM3,ICAM5,RAVER1,TYK2,ZGLP1 HGDP00893,HGDP01090 nsv911040 19 10283004 10310202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576983,nssv1573238 M 6533 0 2 FDX1L,ICAM3,RAVER1 IS33248,IS34304 nsv470125 19 10305826 10352475 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546458 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ICAM3,TYK2 HGDP01412 nsv518008 19 10310358 10398268 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694190 S 2026 1 0 CDC37,ICAM3,MIR1181,PDE4A,TYK2 nsv2415 19 10312307 10344873 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6772 S 9 1 0 TYK2 NA12156 esv1644479 19 10313815 10314264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732681 S 2 0 1 "" HuRef esv24860 19 10350139 10366017 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10794 S 451 1 0 CDC37,TYK2 NA19099 nsv911041 19 10353466 10435549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510292 S 6533 0 1 CDC37,MIR1181,PDE4A SP54956 nsv521918 19 10398268 10403610 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694110 S 2026 1 0 PDE4A nsv833744 19 10430640 10606709 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454531 S 95 0 1 AP1M2,ATG4D,CDKN2D,KEAP1,KRI1,MIR1238,PDE4A,S1PR5,SLC44A2 nsv911042 19 10450422 10589030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579033,nssv1570850 M 6533 0 2 AP1M2,ATG4D,CDKN2D,KEAP1,KRI1,MIR1238,S1PR5,SLC44A2 IS32322,IS35007 dgv574n67 19 10452256 10457158 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828435,nsv828434 M 31 0 3 "" AK2,NA18582,NA18968 nsv820616 19 10452256 10457158 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420036 S 1 0 1 "" NA10851 nsv819038 19 10452272 10457771 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419712 S 2 0 1 "" AK1 dgv3727n71 19 10460965 10547123 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911043,nsv911044 M 6533 0 2 AP1M2,ATG4D,CDKN2D,KEAP1,KRI1,MIR1238,S1PR5 MS18276,SP54956 nsv833745 19 10510808 10699596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454532 S 95 0 1 AP1M2,ATG4D,CDKN2D,DNM2,ILF3,KRI1,LOC147727,MIR1238,MIR638,QTRT1,SLC44A2 nsv911045 19 10512171 10547123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584882,nssv1593451 M 6533 0 2 AP1M2,ATG4D,CDKN2D,KRI1,MIR1238 IS37172,IS39417 nsv911046 19 10512171 10589030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597359,nssv1543786,nssv1588273 M 6533 0 3 AP1M2,ATG4D,CDKN2D,KRI1,MIR1238,SLC44A2 IS38176,IS40799,MS16153 nsv911047 19 10533493 10714296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547008 S 6533 0 1 AP1M2,CDKN2D,DNM2,ILF3,KRI1,LOC147727,MIR638,QTRT1,SLC44A2 MS17208 nsv911048 19 10567567 10633685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510294 S 6533 0 1 ILF3,LOC147727,SLC44A2 SP54956 esv1002882 19 10626541 10631919 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563928 S 3 0 1 ILF3 HuRef nsv833746 19 10650427 10814432 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454534,nssv1454533,nssv1454535 M 95 0 3 DNM2,ILF3,MIR199A1,MIR4748,MIR638,QTRT1,TMED1 esv1772990 19 10686696 10686696 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861573 S 2 1 0 "" HuRef nsv833748 19 10728678 10897044 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454546,nssv1454544,nssv1454540,nssv1454543,nssv1454545,nssv1454542,nssv1454541,nssv1454539,nssv1454537,nssv1454538,nssv1454536 M 95 0 11 C19orf38,CARM1,DNM2,MIR199A1,MIR4748,TMED1,YIPF2 nsv138450 19 10732521 10736637 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157028 M 24 DNM2 nsv911049 19 10781634 10805040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509384 S 6533 0 1 DNM2,MIR199A1,TMED1 SP54782 nsv2416 19 10785899 10820583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1435 S 9 1 0 C19orf38,DNM2,MIR199A1,TMED1 NA19240 nsv828436 19 10807442 10807918 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426265 S 31 1 0 TMED1 AK4 nsv911050 19 10831558 11035625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530949 S 6533 0 1 C19orf38,C19orf52,CARM1,SMARCA4,YIPF2 MS10311 nsv833749 19 10852931 10999254 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454547 S 95 0 1 C19orf52,CARM1,SMARCA4,YIPF2 nsv911051 19 10875937 10903743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510295 S 6533 0 1 C19orf52,CARM1,YIPF2 SP54956 nsv7305 19 10941472 10978072 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1436,nssv5727 M 9 0 0 SMARCA4 NA19129,NA19240 nsv833750 19 10954342 11054633 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454548,nssv1454549 M 95 0 2 SMARCA4 nsv470126 19 10966608 11088602 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546459 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LDLR,SMARCA4 HGDP00298 dgv3728n71 19 10977266 11053226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911054,nsv911053,nsv911052 M 6533 0 3 SMARCA4 IS32322,IS37646,IS39233 nsv833751 19 10977815 11135901 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454550 S 95 0 1 LDLR,SMARCA4,SPC24 esv275095 19 11024689 11038408 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586023,essv2585994 M 1250 1 1 SMARCA4 dgv3729n71 19 11119638 11170871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911056,nsv911055 M 6533 0 2 KANK2,SPC24 IS33601,SP54956 dgv3730n71 19 11127693 11188608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911057,nsv911058 M 6533 0 2 DOCK6,KANK2 IS37646,IS39233 nsv911059 19 11154809 11174256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511044 S 6533 0 1 DOCK6,KANK2 SP54988 esv29212 19 11156091 11157445 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13694 S 451 0 1 KANK2 NA18858 nsv911060 19 11162147 11225495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547009 S 6533 0 1 C19orf80,DOCK6,KANK2 MS17208 nsv522449 19 11163807 11188626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705810 S 2026 0 1 DOCK6,KANK2 nsv525977 19 11165404 11219440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702196 S 2026 0 1 C19orf80,DOCK6,KANK2 nsv833752 19 11180000 11420754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454551 S 95 0 1 C19orf39,C19orf80,CCDC151,CCDC159,DOCK6,EPOR,LPPR2,PRKCSH,RAB3D,RGL3,TMEM205,TSPAN16 esv28707 19 11180906 11183751 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11513 S 451 1 0 DOCK6 NA12044 nsv523678 19 11202635 11219799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699482 S 2026 0 1 C19orf80,DOCK6 nsv519802 19 11208493 11550158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697059 S 2026 0 1 ACP5,C19orf39,C19orf80,CCDC151,CCDC159,CNN1,DOCK6,ECSIT,ELAVL3,ELOF1,EPOR,LPPR2,PRKCSH,RAB3D,RGL3,TMEM205,TSPAN16,ZNF653 nsv911061 19 11225495 11253431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511586 S 6533 0 1 DOCK6 SP55021 esv26258 19 11346189 11347204 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11947 S 451 0 1 C19orf39 NA12239 nsv482213 19 11349475 11356019 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558574 S 1 1 0 EPOR KB1 nsv911062 19 11363291 11590705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586064 S 6533 0 1 ACP5,CCDC151,CNN1,ECSIT,ELAVL3,ELOF1,PRKCSH,RGL3,ZNF627,ZNF653 IS37646 esv1464086 19 11374675 11375207 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036019 S 2 0 1 RGL3 HuRef dgv3731n71 19 11414827 11425205 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911063,nsv911064 M 6533 0 2 ELAVL3,PRKCSH SP54725,SP54988 nsv911065 19 11414827 11515782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510297 S 6533 0 1 CNN1,ECSIT,ELAVL3,PRKCSH,ZNF653 SP54956 nsv819522 19 11423884 11424812 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419124 S 2 0 1 ELAVL3 AK1 nsv819321 19 11425515 11426061 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418999 S 2 1 0 ELAVL3 AK1 nsv911066 19 11445818 11470924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500799 S 6533 0 1 ELAVL3,ZNF653 SP51109 nsv509721 19 11497031 11663205 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619744 S 4 1 0 ACP5,CNN1,ECSIT,ELOF1,ZNF627,ZNF833P NA10860 esv991647 19 11547027 11559489 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565707 S 3 0 1 ACP5 HuRef nsv513515 19 11584574 11585056 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625884 S 1 1 0 ZNF627 1 esv2464355 19 11584657 11585358 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277285 S 1 1 0 ZNF627 NA18507 nsv819872 19 11619229 11625263 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419751 S 2 0 1 "" AK1 nsv525966 19 11638889 12096478 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702180 S 2026 1 0 ZNF433,ZNF439,ZNF440,ZNF441,ZNF491,ZNF69,ZNF700,ZNF763,ZNF788,ZNF823,ZNF833P,ZNF844,ZNF878 esv27676 19 11641159 11642844 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17769 S 451 0 1 "" NA11894 nsv911067 19 11658469 11708615 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515933,nssv1506278,nssv1512872,nssv1514984 M 6533 4 0 ZNF823 SP54127,SP55647,SP56106,SP56313 nsv522659 19 11680193 11693283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706061 S 2026 0 1 ZNF823 esv22040 19 11680245 11681094 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10696 S 451 1 0 "" NA19147 nsv518441 19 11689410 11700595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695878 S 2026 0 1 ZNF823 esv275168 19 11715914 11726607 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585875,essv2585989 M 1250 1 1 "" nsv911068 19 11731583 12384289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572051 S 6533 1 0 ZNF136,ZNF20,ZNF433,ZNF439,ZNF44,ZNF440,ZNF441,ZNF442,ZNF491,ZNF563,ZNF625,ZNF625-ZNF20,ZNF69,ZNF700,ZNF763,ZNF788,ZNF799,ZNF844,ZNF878 IS32843 esv33306 19 11753968 11754549 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95209,essv95532 M 51 2 0 ZNF441 21721,21847 nsv458356 19 11781215 11875274 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535299 S 1557 1 0 ZNF439,ZNF440,ZNF69 1780846321_A esv2147526 19 11783572 11783932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821151 S 1 0 1 "" NA18507 esv1213055 19 11783717 11783803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911011 S 2 0 1 "" HuRef nsv482214 19 11837844 11841306 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558575 S 1 1 0 ZNF439 KB1 nsv911069 19 11866312 12361149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519265 S 6533 0 1 ZNF136,ZNF20,ZNF433,ZNF44,ZNF442,ZNF563,ZNF625,ZNF625-ZNF20,ZNF69,ZNF700,ZNF763,ZNF788,ZNF844,ZNF878 SP80992 nsv482215 19 11896900 11922577 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558576 S 1 1 0 ZNF700 KB1 nsv2417 19 11898982 11908137 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5728 S 9 0 1 ZNF700 NA19129 esv23756 19 11900599 11907033 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16325 S 451 0 11 ZNF700 NA18517,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv507887 19 11916938 11922938 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620639,nssv623256 M 4 2 0 ZNF700 NA15510,NA18994 nsv819366 19 12025961 12040898 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418649 S 2 0 1 ZNF844 AK1 nsv828437 19 12026595 12040717 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424661 S 31 0 1 ZNF844 NA18582 nsv828438 19 12026805 12036662 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437125 S 31 0 1 ZNF844 NA18542 nsv524284 19 12047761 12049266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700183 S 2026 0 1 ZNF844 nsv833753 19 12072785 12245978 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454553,nssv1454552 M 95 0 2 ZNF136,ZNF20,ZNF44,ZNF625,ZNF625-ZNF20,ZNF788 nsv138142 19 12095688 12099487 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156720 M 24 "" esv1002859 19 12112879 12114677 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563569 S 3 1 0 ZNF625-ZNF20 HuRef nsv510754 19 12160956 12177360 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620115 S 4 0 1 ZNF136 NA15510 nsv911070 19 12240079 12297410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500376 S 6533 1 0 ZNF44,ZNF563 SP50593 nsv911071 19 12297410 12377150 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576018 S 6533 1 0 ZNF442,ZNF563,ZNF799 IS33857 esv1086965 19 12326843 12327519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330730 S 2 0 1 ZNF442 HuRef nsv828439 19 12347677 12353842 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422275 S 31 0 1 "" NA18997 dgv1057e1 19 12350726 12410655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19133,esv1123 M 271 0 0 ZNF443,ZNF799 NA12044 esv2528408 19 12360558 12401423 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212916 S 1 0 1 ZNF799 NA18507 esv21983 19 12361000 12411775 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16408 S 451 1 0 ZNF443,ZNF799 NA12044 dgv3732n71 19 12361413 12410085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911074,nsv911072 M 6533 0 3 ZNF443,ZNF799 IS33887,IS41926,MS10658 nsv911073 19 12361413 12423294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563608 S 6533 0 1 ZNF443,ZNF799 MS26123 esv2421660 19 12366873 12394259 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060327,essv5106152,essv5123181,essv5028499,essv5105044,essv5050620,essv5065963,essv5040518,essv5041324,essv5130916,essv5151875,essv5011540,essv5086424 M 1184 13 0 ZNF799 NA12044,NA18599,NA19131,NA19176,NA19197,NA19207,NA19208,NA20359,NA20363,NA21307,NA21309,NA21360,NA21361 nsv442453 19 12377146 12407188 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZNF443 dgv199n21 19 12377150 12393330 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527952,nsv517868 M 2026 2 0 "" nsv817813 19 12377150 12393330 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417039 S 112 1 0 "" NA12044 nsv911075 19 12401103 12454118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514733 S 6533 0 1 ZNF443,ZNF709 SP56047 nsv512562 19 12417261 12419354 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625170 S 1 0 1 "" 1 esv1949244 19 12418526 12419088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833849 S 1 0 1 "" NA18507 esv1398146 19 12418711 12419000 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688973 S 2 0 1 "" HuRef nsv2418 19 12465973 12490479 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4645 S 9 0 1 "" NA19129 nsv436260 19 12466738 12473066 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465659 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv23943 19 12467543 12472445 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12914 S 451 0 6 "" NA18505,NA18858,NA19099,NA19114,NA19129,NA19147 nsv510755 19 12488638 12579004 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618959,nssv620116 M 4 0 2 ZNF490,ZNF564 NA10860,NA15510 nsv2419 19 12521505 12577197 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5729,nssv1437,nssv6773,nssv4344 M 9 0 4 ZNF490,ZNF564 NA12156,NA12878,NA19129,NA19240 nsv828440 19 12522299 12527646 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423857 S 31 0 1 ZNF564 NA18999 esv997496 19 12552482 12560851 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565327 S 3 0 1 ZNF490 HuRef dgv54n16 19 12554349 12560074 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435706,nsv436258 M 2 0 2 ZNF490 NA15510,NA18505 nsv512563 19 12555460 12559956 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625171 S 1 0 1 ZNF490 1 nsv821459 19 12555551 12560157 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420038 S 1 0 1 ZNF490 NA10851 nsv828441 19 12555551 12560157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424662,nssv1423032,nssv1433343,nssv1434085,nssv1431211,nssv1437855,nssv1429497,nssv1440043,nssv1422152,nssv1436249,nssv1423858,nssv1422276,nssv1428739,nssv1435545 M 31 0 14 ZNF490 AK10,AK12,NA18526,NA18537,NA18552,NA18566,NA18582,NA18942,NA18947,NA18949,NA18969,NA18972,NA18997,NA18999 nsv498893 19 12555876 12559939 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585754 S 9 0 1 ZNF490 nsv820210 19 12555934 12562427 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419776 S 2 1 0 ZNF490 AK1 esv23136 19 12555939 12559475 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10570 S 451 8 12 ZNF490 NA06985,NA07045,NA11931,NA11993,NA11995,NA12287,NA12489,NA12776,NA12878,NA15510,NA18858,NA18861,NA18907,NA18916,NA19108,NA19114,NA19129,NA19190,NA19225,NA19257 esv996849 19 12556130 12556903 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586851 S 3 1 0 ZNF490 HuRef nsv828443 19 12556130 12556903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427938,nssv1431006 M 31 0 2 ZNF490 AK16,AK8 nsv514889 19 12556329 12556758 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628328 S 1414 0 1 ZNF490 nsv512564 19 12614273 12615742 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625172 S 1 0 1 "" 1 nsv138389 19 12621314 12622177 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156967 M 24 MAN2B1 dgv3733n71 19 12633263 12868458 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911076,nsv911078 M 6533 0 2 ASNA1,BEST2,C19orf43,C19orf56,DHPS,DNASE2,FBXW9,GCDH,HOOK2,JUNB,KLF1,MAN2B1,MAST1,PRDX2,RNASEH2A,RTBDN,SNORD41,TNPO2,WDR83 IS37646,MS10311 nsv911077 19 12662715 12776994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510298 S 6533 0 1 ASNA1,BEST2,C19orf43,FBXW9,HOOK2,JUNB,PRDX2,SNORD41,TNPO2 SP54956 esv273009 19 12688940 12689281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581231 S 7 1 0 Samples from several populations that are part of the HapMap project. TNPO2 NA19240 nsv911079 19 12722984 12768332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511046 S 6533 0 1 BEST2,HOOK2,JUNB SP54988 dgv3734n71 19 12745757 12768332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911081,nsv911080 M 6533 0 3 HOOK2,JUNB SP51109,SP54725,SP55021 nsv819690 19 12756147 12757451 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419231 S 2 0 1 "" AK1 nsv513711 19 12781566 12784332 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626963 S 1 0 0 RNASEH2A 1 nsv513712 19 12782917 12785249 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626964 S 1 0 0 RNASEH2A 1 nsv911082 19 12793303 13137345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543787 S 6533 0 1 CALR,DAND5,DNASE2,FARSA,GADD45GIP1,GCDH,IER2,KLF1,LYL1,MAST1,NACC1,NFIX,RAD23A,RTBDN,STX10,SYCE2,TRMT1 MS16153 nsv2420 19 12800001 12835472 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4345,nssv5730 M 9 2 0 MAST1,RTBDN NA12878,NA19129 nsv911083 19 12803798 12850294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511047 S 6533 0 1 DNASE2,MAST1,RTBDN SP54988 nsv911084 19 12824285 12848605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510299 S 6533 0 1 DNASE2,MAST1 SP54956 nsv833754 19 12848022 13000000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454554 S 95 0 1 CALR,DAND5,DNASE2,FARSA,GADD45GIP1,GCDH,KLF1,NFIX,RAD23A,SYCE2 nsv911085 19 12915781 12983612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510300 S 6533 0 1 CALR,DAND5,GADD45GIP1,NFIX,RAD23A SP54956 nsv911086 19 12942089 13109856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586066 S 6533 0 1 DAND5,LYL1,NACC1,NFIX,TRMT1 IS37646 nsv513516 19 12959463 12959546 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625928 S 1 1 0 "" 1 esv9729 19 12961079 12961366 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32170 S 1 0 1 "" SJK nsv819472 19 12961208 12961816 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418899 S 2 1 0 "" AK1 nsv2422 19 12972176 13004525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10175 S 9 1 0 NFIX NA18956 nsv828444 19 12984495 12999167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435546 S 31 0 1 NFIX NA18942 esv275430 19 12986959 12992379 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585698,essv2585409 M 1250 1 1 NFIX nsv911087 19 13024576 13143235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510301 S 6533 0 1 IER2,LYL1,NACC1,NFIX,STX10,TRMT1 SP54956 dgv3735n71 19 13055772 13081176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911089,nsv911088 M 6533 0 2 LYL1,NFIX,TRMT1 SP51109,SP54988 nsv828445 19 13067696 13070568 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422277 S 31 1 0 NFIX NA18997 nsv911090 19 13067711 13076934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515576 S 6533 0 1 LYL1,NFIX,TRMT1 SP56223 nsv828446 19 13068731 13070705 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435547 S 31 0 1 NFIX NA18942 nsv828447 19 13068740 13070869 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429498 S 31 1 0 LYL1,NFIX AK12 dgv3736n71 19 13069677 13081676 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911091,nsv911092 M 6533 0 2 LYL1,NFIX,TRMT1 SP54725,SP55021 dgv3737n71 19 13098502 13143235 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911093,nsv911094 M 6533 0 3 IER2,NACC1,STX10 IS37172,IS39233,MS18276 nsv525967 19 13184759 13596342 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702181 S 2026 1 0 CACNA1A esv1689364 19 13193039 13193039 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111912 S 2 1 0 CACNA1A HuRef nsv138156 19 13193041 13193041 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156734 M 24 CACNA1A nsv138168 19 13212503 13212563 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156746 M 24 CACNA1A nsv510468 19 13235042 13241042 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624200,nssv618444 M 4 0 2 CACNA1A CHM,NA18994 nsv819328 19 13248371 13248996 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419031 S 2 0 1 CACNA1A AK1 nsv833755 19 13258013 13465847 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454555 S 95 1 0 CACNA1A nsv911095 19 13263072 13331316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534645 S 6533 0 1 CACNA1A MS11703 esv34036 19 13275594 13727866 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CACNA1A,CCDC130 nsv911096 19 13291324 13326001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585747 S 6533 0 1 CACNA1A IS37639 nsv523990 19 13292565 13302743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699846 S 2026 0 1 CACNA1A nsv520548 19 13296829 13300130 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682599,nssv672550,nssv672418 M 2026 0 3 CACNA1A esv4302 19 13340458 13340971 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26743 S 1 0 1 Single Asian sample YH CACNA1A YH esv7746 19 13410223 13410275 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30187 S 1 1 0 CACNA1A SJK esv271414 19 13449814 13449992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516701 S 157 1 0 Samples from several populations that are part of the HapMap project. CACNA1A NA11881 esv1507670 19 13507613 13507613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239266 S 2 1 0 "" HuRef esv1078592 19 13516214 13516214 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305897 S 2 1 0 "" HuRef nsv833756 19 13553567 13735165 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454556 S 95 0 1 CCDC130 esv27781 19 13559524 13563681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10834 S 451 0 1 "" NA19099 esv259543 19 13598445 13599876 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394164,essv2393874,essv2393721,essv2394398 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv2277689 19 13599902 13600407 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590153 S 1 0 1 "" NA18507 esv2653438 19 13636215 13638774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300399 S 1 0 1 "" NA18507 esv27732 19 13636994 13637717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20592 S 451 0 3 "" NA11995,NA12828,NA19225 nsv821354 19 13636994 13637805 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420039 S 1 1 0 "" NA10851 nsv828448 19 13637109 13637579 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434794 S 31 0 1 "" NA18570 esv993456 19 13637109 13637805 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586775 S 3 0 1 "" HuRef nsv828449 19 13637109 13637805 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423033,nssv1422278,nssv1431223,nssv1423859,nssv1429499,nssv1440738,nssv1434087,nssv1439379,nssv1424664,nssv1436829,nssv1430247,nssv1438516,nssv1431736,nssv1436250,nssv1422163,nssv1427941,nssv1437126,nssv1427155,nssv1430663,nssv1440044,nssv1423225 M 31 0 21 "" AK12,AK14,AK18,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv828450 19 13637109 13639328 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432558 S 31 0 1 "" AK20 esv1207637 19 13675537 13675588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314616 S 2 0 1 "" HuRef nsv833757 19 13697718 13923800 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454558,nssv1454560,nssv1454559,nssv1454557 M 95 0 4 C19orf53,C19orf57,CC2D1A,CCDC130,LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,MRI1,NANOS3,PODNL1,ZSWIM4 esv1419525 19 13709453 13709453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635867 S 2 1 0 "" HuRef nsv911097 19 13759779 13847555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511049 S 6533 0 1 LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,ZSWIM4 SP54988 nsv911098 19 13797640 13926488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574640 S 6533 0 1 C19orf57,CC2D1A,DCAF15,LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,NANOS3,PODNL1,ZSWIM4 IS33601 dgv3738n71 19 13797640 13999212 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911101,nsv911100,nsv911099 M 6533 0 3 C19orf57,CC2D1A,DCAF15,LOC284454,MIR181C,MIR181D,MIR23A,MIR24-2,MIR27A,NANOS3,PODNL1,RFX1,ZSWIM4 IS33239,IS35484,MS17208 nsv911102 19 13821386 14056892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543788 S 6533 0 1 C19orf57,CC2D1A,DCAF15,IL27RA,LOC113230,MIR181C,MIR181D,NANOS3,PALM3,PODNL1,RFX1,RLN3 MS16153 dgv3739n71 19 13836377 14159442 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911107,nsv911103 M 6533 0 2 ASF1B,C19orf57,CC2D1A,DCAF15,IL27RA,LOC113230,LPHN1,MIR181C,MIR181D,NANOS3,PALM3,PODNL1,PRKACA,RFX1,RLN3,SAMD1 IS39233,MS10311 nsv833760 19 13844286 13899886 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454561 S 95 0 1 C19orf57,CC2D1A,MIR181C,MIR181D,NANOS3 dgv3740n71 19 13871933 13999212 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911105,nsv911104 M 6533 0 3 C19orf57,CC2D1A,DCAF15,PODNL1,RFX1 IS32322,IS32737,MS10769 dgv3741n71 19 13871933 14141194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911110,nsv911108,nsv911111,nsv911106,nsv911109 M 6533 0 5 ASF1B,C19orf57,CC2D1A,DCAF15,IL27RA,LOC113230,LPHN1,PALM3,PODNL1,PRKACA,RFX1,RLN3,SAMD1 IS33684,IS34235,IS34304,IS40396,SP54956 nsv828451 19 13909610 13936998 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435548 S 31 0 1 DCAF15,PODNL1,RFX1 NA18942 dgv3742n71 19 13930568 13977856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911114,nsv911112 M 6533 0 2 DCAF15,RFX1 SP54988,SP55021 nsv820186 19 13933200 13933782 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419009 S 2 0 1 DCAF15,RFX1 AK1 dgv3743n71 19 13933734 13969153 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911115,nsv911113 M 6533 0 3 RFX1 SP51109,SP54043,SP54725 nsv833761 19 13970471 14108590 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454563,nssv1454562,nssv1454564 M 95 0 3 ASF1B,IL27RA,LOC113230,PALM3,PRKACA,RFX1,RLN3,SAMD1 nsv828452 19 14031554 14119966 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435549 S 31 0 1 ASF1B,LOC113230,LPHN1,PRKACA,SAMD1 NA18942 nsv828454 19 14033523 14068593 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427156 S 31 1 0 LOC113230,PRKACA,SAMD1 AK6 dgv49n68 19 14038314 14245943 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833762,nsv833763 M 95 0 3 ASF1B,LOC113230,LPHN1,PRKACA,SAMD1 dgv3744n71 19 14042842 14068771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911116,nsv911118 M 6533 0 3 LOC113230,PRKACA,SAMD1 SP54042,SP54725,SP54988 nsv911117 19 14042842 14094734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511590 S 6533 0 1 ASF1B,LOC113230,PRKACA,SAMD1 SP55021 nsv911119 19 14053064 14068771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505773,nssv1507991,nssv1510558 M 6533 0 3 PRKACA,SAMD1 SP53964,SP54591,SP54967 nsv828455 19 14058281 14065015 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431235 S 31 1 0 PRKACA,SAMD1 NA18947 esv21807 19 14061616 14063374 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20138 S 451 0 1 SAMD1 NA12489 nsv911120 19 14083509 14099102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506113 S 6533 0 1 ASF1B,PRKACA SP54043 esv22154 19 14087825 14092072 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16726 S 451 1 0 ASF1B,PRKACA NA12044 nsv517436 19 14107429 14159442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683127,nssv669114,nssv652016,nssv667027,nssv678216,nssv686292,nssv689705 M 2026 0 7 ASF1B,LPHN1 nsv2423 19 14123914 14156934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4346 S 9 1 0 LPHN1 NA12878 esv1923248 19 14285877 14286292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937266 S 1 0 1 "" NA18507 esv1066817 19 14349199 14349270 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594489 S 2 0 1 "" HuRef esv1124112 19 14349489 14349489 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795532 S 2 1 0 "" HuRef nsv833764 19 14353599 14475873 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454568,nssv1454570,nssv1454571,nssv1454569 M 95 0 4 CD97,DDX39A,GIPC1,PKN1,PTGER1 nsv911121 19 14373489 14464932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530952 S 6533 0 1 CD97,DDX39A,GIPC1,PKN1,PTGER1 MS10311 nsv911122 19 14387036 14444772 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586067,nssv1580960 M 6533 0 2 DDX39A,PKN1,PTGER1 IS35484,IS37646 nsv911123 19 14399620 14418821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511052,nssv1508359,nssv1511591 M 6533 0 3 PKN1 SP54725,SP54988,SP55021 dgv3745n71 19 14404466 14421237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911124,nsv911125 M 6533 0 2 PKN1 SP54043,SP54956 nsv470127 19 14406542 14451612 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546461,nssv546460 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GIPC1,PKN1,PTGER1 HGDP00556,HGDP00657 nsv911126 19 14422722 14481467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504497 S 6533 1 0 GIPC1,PKN1,PTGER1 SP52531 nsv828456 19 14430064 14434803 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435550 S 31 0 1 PKN1 NA18942 nsv828457 19 14430140 14435508 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422174 S 31 1 0 PKN1 NA18969 nsv911127 19 14441113 14444582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507466 S 6533 0 1 PKN1,PTGER1 SP54672 nsv817814 19 14441113 14451612 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417504 S 112 0 1 GIPC1,PKN1,PTGER1 NA18968 nsv527867 19 14441328 14475242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704366 S 2026 0 1 GIPC1,PKN1,PTGER1 esv22179 19 14447911 14448811 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18739 S 451 0 2 "" NA12006,NA18505 nsv911128 19 14487197 14497619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510304 S 6533 0 1 DNAJB1 SP54956 nsv138351 19 14494320 14496657 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156929 M 24 "" esv25063 19 14556453 14565392 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19042 S 451 0 1 CLEC17A NA18909 esv7099 19 14567581 14567793 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29540 S 1 0 1 CLEC17A SJK esv2650508 19 14567691 14567877 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178690 S 1 1 0 CLEC17A NA18507 nsv820025 19 14567837 14567882 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418900 S 2 1 0 CLEC17A AK1 esv2534308 19 14592705 14595593 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358335 S 1 0 1 EMR3 NA18507 esv28692 19 14592794 14595049 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13241,esv18955 M 451 4 7 EMR3 NA12006,NA12044,NA12156,NA18505,NA18517,NA18523,NA18861,NA18909,NA19099,NA19129,NA19225 nsv820830 19 14592794 14595049 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420040 S 1 0 1 EMR3 NA10851 nsv512565 19 14592904 14595360 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625173 S 1 0 1 EMR3 1 esv995429 19 14593195 14599902 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564091 S 3 0 1 EMR3 HuRef esv1975584 19 14593219 14595302 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566334 S 1 0 1 EMR3 NA18507 esv1027269 19 14593345 14595142 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281906 S 2 0 1 EMR3 HuRef esv5910 19 14593355 14595128 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28351 S 1 0 1 EMR3 SJK esv995771 19 14593503 14594997 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586060 S 3 0 1 EMR3 HuRef nsv458357 19 14667162 14707335 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535300 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EMR2,ZNF333 HGDP00029 nsv509722 19 14722607 14774812 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621060 S 4 1 0 EMR2,OR7C1 NA15510 esv1001961 19 14734874 14735710 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563914 S 3 1 0 EMR2 HuRef esv2421430 19 14776641 14783883 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095768,essv5063184,essv5074844,essv5068481,essv5070117,essv5118494,essv5156247,essv5048516,essv5050541,essv5033450,essv5150517,essv5092561,essv5141647,essv5096748,essv5106943 M 1184 0 15 "" NA18857,NA18868,NA18869,NA18913,NA19036,NA19113,NA19175,NA19184,NA19185,NA19186,NA19204,NA19311,NA19393,NA19473,NA20786 nsv442454 19 14776641 14783883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514890 19 14776889 14783632 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628329 S 1414 0 1 "" nsv517123 19 14777571 14780710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653822,nssv679587,nssv666784,nssv692122,nssv677090,nssv658069,nssv661713,nssv679045 M 2026 0 8 "" esv259978 19 14805614 14805919 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401113,essv2398904,essv2398648,essv2395562,essv2397627,essv2400962,essv2398806,essv2396183,essv2395874,essv2398172,essv2400788,essv2394833,essv2399799,essv2396432 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA11995,NA12489,NA18501,NA18502,NA18547,NA18582,NA18944,NA18945,NA18949,NA18952,NA19114,NA19129,NA19138 nsv911129 19 14820299 14936266 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533652 S 6533 0 1 OR7A17,OR7C2,SLC1A6 MS11249 esv275428 19 14837065 14842367 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585627 S 1250 0 1 "" nsv520716 19 14844544 14850048 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674680,nssv675698 M 2026 2 0 "" esv275057 19 14873726 14877660 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585421 S 1250 0 1 "" esv2095775 19 14888460 14888895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636047 S 1 0 1 "" NA18507 nsv510756 19 14898268 14923955 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617435,nssv622743 M 4 0 2 OR7C2,SLC1A6 CHM,NA18994 nsv2424 19 14906620 14950627 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4347 S 9 0 1 OR7C2,SLC1A6 NA12878 esv2508789 19 14907091 14911633 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386380 S 1 0 1 "" NA18507 esv2405423 19 14907201 14910670 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870472 S 1 0 1 "" NA18507 nsv820365 19 14907218 14910722 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420041 S 1 0 1 "" NA10851 nsv828458 19 14907218 14910722 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423034,nssv1429500,nssv1438517,nssv1423237,nssv1439380,nssv1436840,nssv1440739,nssv1432559,nssv1424665,nssv1436251,nssv1426266,nssv1427942,nssv1427157,nssv1423860,nssv1434795,nssv1430674 M 31 0 16 "" AK12,AK20,AK4,AK6,AK8,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18951,NA18968,NA18973,NA18999 esv22484 19 14907340 14910599 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21175,esv19404,esv13805 M 451 13 10 "" NA06985,NA07045,NA11894,NA11931,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18517,NA18523,NA18861,NA18907,NA19108,NA19129,NA19225,NA19240,NA19257 esv3726 19 14907359 14910523 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26167 S 1 0 1 Single Asian sample YH "" YH esv6379 19 14907392 14910475 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28820 S 1 0 1 "" SJK nsv511611 19 14907722 14909807 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626241 S 1 1 0 "" 1 esv2554553 19 14907910 14910578 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321894 S 1 0 1 "" NA18507 dgv575n67 19 14908171 14910468 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828461,nsv828462,nsv828460,nsv828459 M 31 0 7 "" AK10,AK16,NA18526,NA18537,NA18942,NA18947,NA18969 nsv514891 19 14908479 14910507 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628330 S 1414 0 1 "" dgv1058e1 19 14957950 15120179 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24273,esv365 M 271 0 0 CASP14,CCDC105,ILVBL,OR1I1,SYDE1 NA10856 nsv527295 19 14974675 14974778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703710 S 2026 0 1 "" nsv138379 19 14981078 14981078 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156957 M 24 "" nsv518179 19 14994926 14996741 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695599 S 2026 0 1 CCDC105 nsv523277 19 14994926 14998243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699011 S 2026 0 1 CCDC105 nsv828463 19 14997992 15004489 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426267 S 31 0 1 "" AK4 nsv525115 19 15053988 15061165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701179 S 2026 0 1 OR1I1 nsv911130 19 15071776 15094581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510305 S 6533 0 1 ILVBL,SYDE1 SP54956 esv34154 19 15073434 15256623 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BRD4,EPHX3,ILVBL,NOTCH3,SYDE1 nsv9668 19 15073611 15103322 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28454,nssv27438 M 31 2 0 Samples from several populations that are part of the HapMap project. ILVBL,SYDE1 NA18502,NA19221 nsv911131 19 15126732 15155991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511053 S 6533 0 1 NOTCH3 SP54988 nsv911132 19 15131665 15226685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510306 S 6533 0 1 BRD4,EPHX3,NOTCH3 SP54956 esv997404 19 15131787 15132235 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586850 S 3 0 1 NOTCH3 HuRef nsv521424 19 15131805 15132771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694445 S 2026 0 1 NOTCH3 esv271038 19 15237943 15238028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514077 S 157 1 0 Samples from several populations that are part of the HapMap project. BRD4 NA12043 nsv833765 19 15264050 15447364 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454572 S 95 0 1 AKAP8,AKAP8L,MIR1470,PGLYRP2,RASAL3,WIZ nsv911133 19 15286752 15448185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510307 S 6533 0 1 AKAP8,AKAP8L,MIR1470,PGLYRP2,RASAL3,WIZ SP54956 dgv3746n71 19 15381536 15501972 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911135,nsv911134 M 6533 0 2 AKAP8L,CYP4F22,MIR1470,PGLYRP2,RASAL3,WIZ MS10311,MS17208 nsv828465 19 15382501 15389032 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422208 S 31 1 0 AKAP8L NA18969 dgv3747n71 19 15390020 15432338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911136,nsv911137 M 6533 0 4 AKAP8L,MIR1470,RASAL3,WIZ SP51109,SP54725,SP54988,SP55021 nsv819830 19 15393426 15393991 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419006 S 2 1 0 WIZ AK1 nsv482216 19 15423438 15436382 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558577 S 1 0 1 RASAL3 KB1 esv2551856 19 15430770 15431050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175119 S 1 0 1 RASAL3 NA18507 nsv828466 19 15441764 15443925 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431009 S 31 1 0 PGLYRP2 AK16 nsv911138 19 15479771 15526528 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549093 S 6533 1 0 CYP4F22 MS18053 nsv911139 19 15494436 15899535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569603 S 6533 1 0 CYP4F11,CYP4F12,CYP4F2,CYP4F22,CYP4F24P,CYP4F3,CYP4F8,OR10H1,OR10H2,OR10H3,OR10H5,UCA1 IS31649 esv1000418 19 15508413 15517400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565184 S 3 0 1 CYP4F22 HuRef nsv817815 19 15526528 15529140 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418225,nssv1418224,nssv1418227 M 112 0 3 "" NA19143,NA19144,NA19145 nsv515771 19 15527533 15529140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690401,nssv664731 M 2026 0 2 "" esv1497518 19 15587943 15587943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612695 S 2 1 0 CYP4F8 HuRef nsv911140 19 15611803 15633233 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548282 S 6533 1 0 CYP4F3 MS17785 nsv9670 19 15621314 15637760 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21640 S 31 0 1 Samples from several populations that are part of the HapMap project. CYP4F3 NA12802 esv2477444 19 15622452 15624125 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201586 S 1 0 1 CYP4F3 NA18507 esv1597130 19 15622636 15622636 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002469 S 2 1 0 CYP4F3 HuRef esv2269626 19 15622808 15623597 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845370 S 1 0 1 CYP4F3 NA18507 esv22910 19 15623030 15624264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14085 S 451 0 2 CYP4F3 NA11995,NA12239 nsv470128 19 15625071 15700365 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546466,nssv546472,nssv546462,nssv546467,nssv546481,nssv546480,nssv546471,nssv546469,nssv546474,nssv546477,nssv546463,nssv546465,nssv546473,nssv546482,nssv546470,nssv546483,nssv546484,nssv546478,nssv546479,nssv546468 M 443 20 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP4F12,CYP4F3,OR10H2 HGDP00450,HGDP00459,HGDP00466,HGDP00467,HGDP00470,HGDP00471,HGDP00472,HGDP00473,HGDP00479,HGDP00924,HGDP00936,HGDP00940,HGDP00942,HGDP00982,HGDP00985,HGDP01028,HGDP01081,HGDP01089,HGDP01413,HGDP01414 dgv3748n71 19 15626013 15634915 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911142,nsv911141 M 6533 0 2 CYP4F3 SP52094,SP57472 nsv911143 19 15627515 15631418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501851 S 6533 0 1 CYP4F3 SP51058 dgv3749n71 19 15631784 15635241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911145,nsv911144 M 6533 0 2 CYP4F3 SP56172,SP57401 nsv911146 19 15633233 15634271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506600 S 6533 0 1 "" SP54381 nsv516707 19 15634915 15696522 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684241,nssv660894,nssv681375,nssv680265,nssv665442,nssv656672,nssv698418,nssv657613,nssv652997,nssv668549,nssv690678,nssv675022,nssv673967,nssv652599,nssv681505,nssv689506,nssv659013,nssv678006 M 2026 18 0 CYP4F12 nsv9671 19 15638296 15694832 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25627,nssv25604,nssv27701 M 31 2 0 Samples from several populations that are part of the HapMap project. CYP4F12 NA18860,NA19173 dgv137e55 19 15638409 15700459 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35069,esv34923,esv34230,esv34310,esv34334,esv34422,esv34445,esv34718 M 771 8 0 CYP4F12,OR10H2 NA18505,NA18515,NA18523,NA18854,NA18859,NA18860,NA19171,NA19173 esv22534 19 15639056 15698007 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17693,esv16131,esv19280 M 451 5 1 CYP4F12 NA12489,NA18505,NA18508,NA18523,NA18916,NA19240 esv2421519 19 15640453 15691468 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5072251,essv5033140,essv5113829,essv5141395,essv5092964,essv5056066,essv5041813,essv5110601,essv5005914,essv5125604,essv5042761,essv5022370,essv5154830,essv5052431,essv5071646,essv5013118,essv5098435,essv5083139,essv5041172,essv5150575,essv5091595,essv5069103,essv5016456,essv5047626,essv5026072,essv5037179,essv5095944,essv5129381,essv5077743,essv5123468,essv5111165,essv5017272,essv5038507,essv5159378,essv5137693,essv5149881,essv5147206,essv5086474 M 1184 38 0 CYP4F12 NA18505,NA18506,NA18508,NA18515,NA18516,NA18852,NA18854,NA18859,NA18860,NA18916,NA18924,NA19116,NA19117,NA19137,NA19139,NA19171,NA19173,NA19182,NA19183,NA19198,NA19199,NA19247,NA19317,NA19346,NA19350,NA19384,NA19398,NA19456,NA19711,NA20127,NA20334,NA20335,NA21451,NA21529,NA21678,NA21717,NA21718,NA21740 dgv397n27 19 15641017 15652606 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458358,nsv458359 M 1557 2 0 CYP4F12 HGDP00458,HGDP00473 nsv458360 19 15641017 15672717 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535303 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP4F12 HGDP00471 dgv28n64 19 15641017 15691468 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817816,nsv817818 M 112 9 0 CYP4F12 NA18515,NA18516,NA18852,NA18854,NA19116,NA19137,NA19139,NA19171,NA19173 dgv398n27 19 15641017 15696522 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458362,nsv458367,nsv458365,nsv458364,nsv458370,nsv458368,nsv458366,nsv458369,nsv458361,nsv458371 M 1557 10 0 CYP4F12 HGDP00450,HGDP00459,HGDP00467,HGDP00470,HGDP00479,HGDP00924,HGDP00936,HGDP00940,HGDP00942,HGDP01414 dgv1059e1 19 15641041 15712261 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10195,essv15937,essv8517,essv12112,essv9265,essv9298,esv1306,essv8496,essv13115,essv16591,essv8909,essv12142 M 271 0 0 CYP4F12,OR10H2 NA18505,NA18515,NA18516,NA18523,NA18852,NA18854,NA18859,NA18860,NA19137,NA19171,NA19173 nsv442455 19 15641343 15652621 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CYP4F12 dgv1060e1 19 15641593 15686739 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8967,essv12027,essv10716,essv16185 M 271 0 0 CYP4F12 NA18506,NA18508,NA19116,NA19139 nsv526168 19 15641747 15720712 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702429 S 2026 1 0 CYP4F12,OR10H2,OR10H3 nsv436858 19 15642611 15692561 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465662 S 2 1 0 Samples from several populations that are part of the HapMap project. CYP4F12 NA18505 esv7528 19 15645881 15646418 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29969 S 1 0 1 CYP4F12 SJK esv1195281 19 15646238 15646292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702327 S 2 0 1 CYP4F12 HuRef esv3260 19 15647059 15749458 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25701 S 1 0 0 Single Asian sample YH CYP4F12,CYP4F24P,OR10H2,OR10H3 YH esv1181428 19 15648197 15648197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961744 S 2 1 0 CYP4F12 HuRef esv6588 19 15648213 15648777 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29029 S 1 0 1 CYP4F12 SJK esv1095444 19 15648298 15648472 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029491 S 2 0 1 CYP4F12 HuRef esv1556855 19 15648494 15648760 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978140 S 2 0 1 CYP4F12 HuRef esv1436299 19 15648778 15648898 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278616 S 2 0 1 CYP4F12 HuRef esv1047697 19 15649081 15649278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143091 S 2 0 1 CYP4F12 HuRef esv1029693 19 15649493 15649493 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790319 S 2 1 0 CYP4F12 HuRef esv1237749 19 15649557 15649557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795530 S 2 1 0 CYP4F12 HuRef esv2125708 19 15649577 15649938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734033 S 1 0 1 CYP4F12 NA18507 esv1718200 19 15649759 15649759 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003226 S 2 1 0 CYP4F12 HuRef nsv442761 19 15661348 15685067 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CYP4F12 esv259444 19 15673809 15674107 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393941,essv2393742,essv2394033,essv2394346 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv1076232 19 15683472 15683472 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734995 S 2 1 0 "" HuRef nsv833766 19 15730905 15928714 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454573 S 95 0 1 CYP4F11,CYP4F2,CYP4F24P,OR10H1,OR10H4,OR10H5,UCA1 nsv2425 19 15736235 15766462 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2992 S 9 1 0 CYP4F24P,OR10H5 NA18555 nsv138369 19 15772887 15773185 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156947 M 24 "" esv1504680 19 15788952 15788952 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596441 S 2 1 0 "" HuRef dgv3750n71 19 15845508 15880408 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911147,nsv911148,nsv911149 M 6533 0 4 CYP4F2 MS19606,SP54789,SP55131,SP56757 esv1958771 19 15854192 15854601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982312 S 1 0 1 CYP4F2 NA18507 esv1124839 19 15854392 15854510 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050659 S 2 0 1 CYP4F2 HuRef nsv911150 19 15865371 15894485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586068 S 6533 0 1 CYP4F11,CYP4F2 IS37646 nsv911151 19 15866296 15885538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530954 S 6533 0 1 CYP4F11,CYP4F2 MS10311 esv21733 19 15898624 15906679 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17120,esv20980,esv14714 M 451 6 7 CYP4F11 NA11894,NA11995,NA12004,NA12044,NA12776,NA12828,NA18517,NA18523,NA18909,NA19114,NA19147,NA19190,NA19240 nsv821195 19 15902619 15906679 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420042 S 1 0 1 CYP4F11 NA10851 esv1311910 19 15905230 15905690 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907327 S 2 0 1 CYP4F11 HuRef esv1040025 19 15905830 15905830 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908143 S 2 1 0 CYP4F11 HuRef nsv911152 19 15936177 15987795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554935 S 6533 0 1 LOC126536 MS21100 dgv3751n71 19 15936177 16033739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911154,nsv911153 M 6533 0 2 FLJ25328,LOC126536 IS41894,MS22103 esv1457740 19 15937806 15937806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307148 S 2 1 0 "" HuRef nsv522331 19 15946596 15950925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695111 S 2026 0 1 "" nsv520592 19 15950925 15966270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687293,nssv672922,nssv686051,nssv687959,nssv678217,nssv695676,nssv679642 M 2026 0 7 "" esv2515041 19 15957272 15958118 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278868 S 1 1 0 "" NA18507 esv21458 19 15964205 15967575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14996 S 451 0 2 "" NA18517,NA19190 dgv3752n71 19 15971879 16022283 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911155,nsv911156 M 6533 0 2 FLJ25328,LOC126536 MS10311,MS19630 dgv200n21 19 15987795 16011779 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524067,nsv517514 M 2026 0 18 FLJ25328,LOC126536 nsv458372 19 16005586 16033739 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535315 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ25328 HGDP01169 nsv513517 19 16029279 16029998 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625929 S 1 1 0 "" 1 nsv911157 19 16033739 16053625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510308 S 6533 0 1 TPM4 SP54956 nsv137994 19 16037883 16039993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156572 M 24 TPM4 nsv911158 19 16080751 16111595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510309 S 6533 0 1 HSH2D,RAB8A SP54956 nsv833767 19 16093201 16319571 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454574 S 95 0 1 AP1M1,CIB3,FAM32A,HSH2D,KLF2,RAB8A esv2036810 19 16211902 16212317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752750 S 1 0 1 "" NA18507 nsv513518 19 16228088 16228254 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625930 S 1 1 0 "" 1 esv7730 19 16228320 16228375 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30171 S 1 1 0 "" SJK nsv517667 19 16230410 16253163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658672,nssv676743,nssv657318,nssv692707,nssv684571,nssv652768,nssv689938,nssv682449,nssv654954,nssv655732,nssv653025,nssv673182,nssv677576,nssv679280 M 2026 0 14 "" nsv911159 19 16230410 16315110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552797 S 6533 0 1 KLF2 MS19630 esv1519225 19 16272176 16272328 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754499 S 2 0 1 "" HuRef nsv828467 19 16275365 16281405 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436253 S 31 0 1 "" NA18566 nsv507888 19 16275835 16281835 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619214 S 4 1 0 "" NA10860 dgv3753n71 19 16288607 16302799 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911161,nsv911160 M 6533 0 2 KLF2 SP51109,SP54042 nsv911162 19 16288607 16310517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510310 S 6533 0 1 KLF2 SP54956 nsv911163 19 16293696 16300390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509684 S 6533 0 1 KLF2 SP54937 dgv3754n71 19 16296011 16302799 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911164,nsv911165 M 6533 0 4 KLF2 SP54593,SP54725,SP54988,SP55019 nsv911166 19 16320005 16439881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543789 S 6533 0 1 EPS15L1 MS16153 nsv911167 19 16484119 16617182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586069 S 6533 0 1 C19orf44,CHERP,MED26,SLC35E1 IS37646 nsv510757 19 16531732 16604120 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622744 S 4 0 1 MED26,SLC35E1 NA18994 nsv911168 19 16761878 16874919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547012 S 6533 0 1 CPAMD8,F2RL3,NWD1,SIN3B MS17208 nsv911169 19 16807764 16874919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595446,nssv1570853,nssv1573968 M 6533 0 3 CPAMD8,F2RL3,SIN3B IS32322,IS33504,IS40230 esv24348 19 16846026 16847792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16076 S 451 0 1 SIN3B NA12828 esv1088392 19 16847403 16847623 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120448 S 2 0 1 SIN3B HuRef nsv911170 19 16857200 16869105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510311 S 6533 0 1 CPAMD8,F2RL3 SP54956 dgv3755n71 19 16857200 16874919 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911171,nsv911173 M 6533 0 2 CPAMD8,F2RL3 SP54725,SP54988 nsv911172 19 16857200 16915492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543790 S 6533 0 1 CPAMD8,F2RL3 MS16153 nsv911174 19 16861231 16868740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506115 S 6533 0 1 CPAMD8,F2RL3 SP54043 esv29414 19 16868275 16869550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19277 S 451 0 1 CPAMD8 NA12239 nsv911175 19 16929524 16960980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499220 S 6533 0 1 CPAMD8 SP50074 nsv2426 19 16967705 16986457 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1438 S 9 1 0 CPAMD8 NA19240 esv1011304 19 16970357 16974019 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586135 S 3 0 1 CPAMD8 HuRef nsv519740 19 16973827 16974147 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660470,nssv658049,nssv699664 M 2026 1 2 CPAMD8 esv32733 19 16998070 16999171 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97555 S 51 1 0 CPAMD8 21616 esv27066 19 17002653 17006495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14659 S 451 0 1 "" NA18517 nsv2427 19 17069627 17104026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1439 S 9 1 0 MYO9B NA19240 esv29036 19 17122340 17122790 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10068 S 451 1 0 MYO9B NA12239 nsv821248 19 17122340 17122948 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420043 S 1 0 1 MYO9B NA10851 nsv828468 19 17122367 17122948 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431259,nssv1434797,nssv1436852,nssv1437856,nssv1424666,nssv1423035,nssv1434089,nssv1430685 M 31 8 0 MYO9B NA18526,NA18552,NA18570,NA18582,NA18592,NA18947,NA18949,NA18968 dgv3756n71 19 17153014 17212535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911177,nsv911176 M 6533 0 2 MYO9B,NR2F6,OCEL1,USE1 IS33178,IS37985 nsv458373 19 17155296 17198344 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535316 S 1557 0 1 MYO9B,OCEL1,USE1 1780854288_A dgv3757n71 19 17155296 17255504 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911180,nsv911178,nsv911179 M 6533 0 3 ANKLE1,BABAM1,MYO9B,NR2F6,OCEL1,USE1,USHBP1 IS32322,IS33504,IS38176 dgv3758n71 19 17155296 17325713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911187,nsv911183,nsv911181 M 6533 0 3 ABHD8,ANKLE1,ANO8,BABAM1,DDA1,GTPBP3,MRPL34,MYO9B,NR2F6,OCEL1,PLVAP,USE1,USHBP1 IS34235,IS39258,SP54956 nsv911182 19 17155296 17552751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574641 S 6533 0 1 ABHD8,ANKLE1,ANO8,BABAM1,BST2,DDA1,FAM125A,FAM129C,GLT25D1,GTPBP3,MRPL34,MYO9B,NR2F6,NXNL1,OCEL1,PGLS,PLVAP,SLC27A1,TMEM221,USE1,USHBP1 IS33601 nsv470129 19 17159893 17313527 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546485,nssv546488,nssv546489,nssv546486 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABHD8,ANKLE1,ANO8,BABAM1,DDA1,GTPBP3,MRPL34,MYO9B,NR2F6,OCEL1,USE1,USHBP1 HGDP00302,HGDP00657,HGDP00702,HGDP00951 nsv911184 19 17175874 17186913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511057 S 6533 0 1 MYO9B SP54988 nsv911185 19 17175874 17278252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595447 S 6533 0 1 ABHD8,ANKLE1,BABAM1,MRPL34,MYO9B,NR2F6,OCEL1,USE1,USHBP1 IS40230 nsv911186 19 17182669 17278252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590818 S 6533 1 0 ABHD8,ANKLE1,BABAM1,MRPL34,MYO9B,NR2F6,OCEL1,USE1,USHBP1 IS38591 nsv828469 19 17192690 17198976 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435553 S 31 0 1 OCEL1 NA18942 nsv911188 19 17198344 17253894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592442 S 6533 0 1 ANKLE1,BABAM1,NR2F6,OCEL1,USHBP1 IS39233 nsv911189 19 17203664 17228435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511058 S 6533 0 1 NR2F6,USHBP1 SP54988 dgv3759n71 19 17212535 17278252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911194,nsv911190 M 6533 0 2 ABHD8,ANKLE1,BABAM1,MRPL34,NR2F6,USHBP1 IS38293,MS17208 dgv3760n71 19 17212535 17325713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911192,nsv911191,nsv911196,nsv911195,nsv911193,nsv911197 M 6533 0 8 ABHD8,ANKLE1,ANO8,BABAM1,DDA1,GTPBP3,MRPL34,NR2F6,PLVAP,USHBP1 IS30197,IS32841,IS33178,IS37646,IS40799,IS41243,MS10311,MS13770 esv29611 19 17216504 17218436 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12480 S 451 0 1 NR2F6 NA18511 nsv911198 19 17236213 17374981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543791 S 6533 0 1 ABHD8,ANKLE1,ANO8,BABAM1,BST2,DDA1,GTPBP3,MRPL34,PLVAP,USHBP1 MS16153 esv24265 19 17238697 17239172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10214 S 451 0 1 "" NA12239 nsv911199 19 17239337 17257549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499461 S 6533 0 1 ANKLE1,BABAM1 SP50159 nsv515965 19 17245267 17281289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679225,nssv658228,nssv676858,nssv672661,nssv662342,nssv665495,nssv673562,nssv675433,nssv662122,nssv677944,nssv688468,nssv659424,nssv703068,nssv702549 M 2026 0 14 ABHD8,ANKLE1,BABAM1,MRPL34 nsv911200 19 17245267 17302488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566726 S 6533 0 1 ABHD8,ANKLE1,ANO8,BABAM1,DDA1,MRPL34 IS30884 esv1009781 19 17259616 17266443 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563689 S 3 0 1 ABHD8 HuRef esv1347676 19 17286944 17287030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253132 S 2 0 1 DDA1 HuRef esv21604 19 17304249 17311279 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18599 S 451 1 0 ANO8,GTPBP3 NA12828 nsv833768 19 17310649 17498547 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454575 S 95 0 1 BST2,FAM125A,FAM129C,GTPBP3,NXNL1,PGLS,PLVAP,SLC27A1,TMEM221 nsv911201 19 17313527 17413306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547014 S 6533 0 1 BST2,FAM125A,GTPBP3,PLVAP,TMEM221 MS17208 esv1083366 19 17320972 17320972 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273836 S 2 1 0 "" HuRef dgv3761n71 19 17402182 17494933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911202,nsv911204 M 6533 0 2 NXNL1,PGLS,SLC27A1,TMEM221 IS37646,SP54956 nsv911203 19 17417054 17451281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502730 S 6533 0 1 NXNL1,SLC27A1,TMEM221 SP51368 nsv911205 19 17417054 17552751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530957 S 6533 0 1 FAM129C,GLT25D1,NXNL1,PGLS,SLC27A1,TMEM221 MS10311 dgv3762n71 19 17440984 17521300 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911207,nsv911206 M 6533 0 2 FAM129C,PGLS,SLC27A1 IS39233,MS18276 esv2422429 19 17501677 17550862 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161469 S 181 1 0 FAM129C,GLT25D1 ND05370 nsv138503 19 17548813 17548813 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157081 M 24 GLT25D1 nsv138197 19 17609483 17609746 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156775 M 24 UNC13A esv999988 19 17609501 17609764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569602 S 3 0 1 UNC13A HuRef esv269588 19 17613461 17613765 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546313,essv2577349,essv2547308,essv2564265,essv2530746,essv2537974 M 157 6 0 Samples from several populations that are part of the HapMap project. UNC13A NA07000,NA11881,NA12043,NA12717,NA12828,NA12873 nsv138145 19 17637787 17637844 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156723 M 24 UNC13A dgv50n68 19 17643691 17814732 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833771,nsv833769 M 95 0 4 B3GNT3,FCHO1,INSL3,JAK3,MAP1S,UNC13A nsv911208 19 17650409 17723131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510314 S 6533 0 1 FCHO1,MAP1S,UNC13A SP54956 nsv911209 19 17650409 17865912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573970 S 6533 0 1 B3GNT3,FCHO1,INSL3,JAK3,MAP1S,RPL18A,SLC5A5,SNORA68,UNC13A IS33504 esv992383 19 17669799 17674221 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564973 S 3 0 1 "" HuRef dgv3763n71 19 17681405 17711189 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911211,nsv911210 M 6533 0 4 MAP1S SP51109,SP54043,SP54725,SP54988 dgv3764n71 19 17681405 17818024 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911215,nsv911213,nsv911212 M 6533 0 3 B3GNT3,FCHO1,INSL3,JAK3,MAP1S IS39233,MS10769,MS17208 nsv911214 19 17688442 17984965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574642 S 6533 0 1 ARRDC2,B3GNT3,CCDC124,FCHO1,INSL3,JAK3,KCNN1,MAP1S,RPL18A,SLC5A5,SNORA68 IS33601 dgv3765n71 19 17690717 17775484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911216,nsv911217 M 6533 0 2 B3GNT3,FCHO1,MAP1S MS10311,MS16153 esv1349147 19 17694249 17694249 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344361 S 2 1 0 MAP1S HuRef nsv911218 19 17733069 17767839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538275 S 6533 1 0 B3GNT3,FCHO1 MS13561 nsv911219 19 17753591 17849825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549979 S 6533 0 1 B3GNT3,FCHO1,INSL3,JAK3,RPL18A,SLC5A5,SNORA68 MS18276 nsv911220 19 17761158 17802143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579034 S 6533 0 1 B3GNT3,INSL3,JAK3 IS35007 nsv911221 19 17775484 17806696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510315 S 6533 0 1 B3GNT3,INSL3,JAK3 SP54956 dgv3766n71 19 17783795 17865912 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911222,nsv911224,nsv911223 M 6533 0 3 B3GNT3,INSL3,JAK3,RPL18A,SLC5A5,SNORA68 IS33684,IS37646,MS16153 nsv911225 19 17809861 17833027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510316 S 6533 0 1 JAK3,RPL18A SP54956 nsv833772 19 17826173 18000337 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454581,nssv1454580 M 95 1 1 ARRDC2,CCDC124,KCNN1,RPL18A,SLC5A5,SNORA68 nsv911226 19 17868077 17936077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589125 S 6533 0 1 CCDC124,KCNN1 IS38293 nsv911227 19 17868077 17978646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576985 S 6533 0 1 ARRDC2,CCDC124,KCNN1 IS34304 esv2300953 19 17878450 17878873 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644678 S 1 0 1 "" NA18507 dgv3767n71 19 17899782 17978646 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911228,nsv911229 M 6533 0 2 ARRDC2,CCDC124,KCNN1 IS34235,IS39233 esv2232366 19 17905702 17906322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4529201 S 1 0 1 CCDC124 NA18507 nsv470130 19 17908283 18095587 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546490 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARRDC2,CCDC124,IL12RB1,KCNN1,MAST3 HGDP00313 dgv3768n71 19 17920744 17956251 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911231,nsv911230 M 6533 0 2 KCNN1 SP55019,SP55021 dgv3769n71 19 17922509 17989388 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911234,nsv911232 M 6533 0 3 ARRDC2,KCNN1 IS33504,IS33684,SP54956 nsv911233 19 17922639 17944619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508174 S 6533 0 1 KCNN1 SP54593 esv274435 19 17957034 17957119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581553 S 7 1 0 Samples from several populations that are part of the HapMap project. KCNN1 NA12878 esv991938 19 17960265 17961550 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586876 S 3 1 0 KCNN1 HuRef nsv2428 19 17966839 18000567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7428 S 9 1 0 ARRDC2,KCNN1 NA12156 nsv911235 19 18004862 18036853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500202 S 6533 0 1 IL12RB1 SP50159 nsv833773 19 18013971 18163988 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454583,nssv1454582 M 95 0 2 IFI30,IL12RB1,MAST3,PIK3R2 nsv911236 19 18030314 18036853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502643,nssv1516615 M 6533 0 2 IL12RB1 SP51307,SP56878 dgv3770n71 19 18030449 18054060 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911237,nsv911239 M 6533 2 0 IL12RB1 SP52077,SP53347 nsv911238 19 18033004 18041194 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507001 S 6533 1 0 IL12RB1 SP54448 nsv911240 19 18037357 18042779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514658 S 6533 0 1 IL12RB1 SP56042 dgv3771n71 19 18054191 18165700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911241,nsv911242 M 6533 0 2 IFI30,IL12RB1,MAST3,MPV17L2,PIK3R2 IS33504,MS21814 dgv3772n71 19 18067681 18149069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911246,nsv911247,nsv911243 M 6533 0 4 IFI30,MAST3,PIK3R2 IS32737,IS33178,IS37172,IS40230 nsv911244 19 18067681 18165700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581475 S 6533 1 0 IFI30,MAST3,MPV17L2,PIK3R2 IS35581 dgv3773n71 19 18067681 18199101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911252,nsv911245,nsv911248 M 6533 0 6 IFI30,MAST3,MPV17L2,PDE4C,PIK3R2,RAB3A IS32322,IS32841,IS33455,MS13770,MS16153,MS17208 nsv833774 19 18074761 18156329 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454590,nssv1454584,nssv1454585,nssv1454589,nssv1454586,nssv1454588,nssv1454587,nssv1454592,nssv1454591,nssv1454593 M 95 0 10 IFI30,MAST3,PIK3R2 nsv833775 19 18074761 18251074 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454607,nssv1454606,nssv1454605,nssv1454602,nssv1454608,nssv1454609,nssv1454603,nssv1454604,nssv1454601,nssv1454596,nssv1454600,nssv1454595,nssv1454594,nssv1454597,nssv1454599,nssv1454598 M 95 0 16 IFI30,KIAA1683,LOC729966,MAST3,MPV17L2,PDE4C,PIK3R2,RAB3A dgv3774n71 19 18085729 18283364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911253,nsv911249,nsv911251,nsv911250 M 6533 0 4 IFI30,JUND,KIAA1683,LOC729966,LSM4,MAST3,MIR3188,MPV17L2,PDE4C,PIK3R2,RAB3A IS33601,IS37646,IS39233,MS10311 nsv2429 19 18095179 18140381 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7429 S 9 0 1 MAST3,PIK3R2 NA12156 nsv911254 19 18109146 18171678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510318 S 6533 0 1 IFI30,MAST3,MPV17L2,PIK3R2,RAB3A SP54956 dgv3775n71 19 18115876 18143586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911257,nsv911255 M 6533 0 2 MAST3,PIK3R2 SP54988,SP55021 nsv911256 19 18116359 18199101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544346 S 6533 0 1 IFI30,MAST3,MPV17L2,PDE4C,PIK3R2,RAB3A MS16315 dgv3776n71 19 18123371 18144501 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911259,nsv911258 M 6533 0 2 MAST3,PIK3R2 SP51109,SP54672 nsv911260 19 18149069 18247798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549980 S 6533 0 1 IFI30,KIAA1683,LOC729966,MPV17L2,PDE4C,RAB3A MS18276 dgv3777n71 19 18149947 18173453 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911262,nsv911261 M 6533 5 0 MPV17L2,RAB3A SP50109,SP52058,SP52858,SP57376,SP57905 dgv576n67 19 18150598 18172602 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828470,nsv828471 M 31 3 0 MPV17L2,RAB3A AK2,NA18951,NA18997 nsv819691 19 18155153 18173275 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418673 S 2 1 0 MPV17L2,RAB3A AK1 nsv911263 19 18170365 18185329 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510607 S 6533 1 0 PDE4C,RAB3A SP54979 nsv911264 19 18170365 18230644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576986 S 6533 0 1 KIAA1683,LOC729966,PDE4C,RAB3A IS34304 nsv470131 19 18187222 18250135 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546491,nssv546493,nssv546492 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1683,LOC729966,PDE4C HGDP00298,HGDP00313,HGDP01397 dgv3778n71 19 18212674 18236659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911265,nsv911266 M 6533 0 2 KIAA1683,LOC729966,PDE4C SP51109,SP54988 dgv3779n71 19 18212674 18256537 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911267,nsv911268 M 6533 0 2 JUND,KIAA1683,LOC729966,MIR3188,PDE4C IS32737,IS34235 dgv3780n71 19 18212674 18283364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911270,nsv911269 M 6533 0 2 JUND,KIAA1683,LOC729966,LSM4,MIR3188,PDE4C IS39417,MS16153 nsv911271 19 18223940 18314124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510319 S 6533 0 1 JUND,KIAA1683,LOC729966,LSM4,MIR3188,PGPEP1 SP54956 nsv828472 19 18238725 18265131 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435554 S 31 0 1 JUND,KIAA1683,MIR3188 NA18942 dgv3781n71 19 18239219 18315825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911273,nsv911272 M 6533 0 2 JUND,KIAA1683,LSM4,MIR3188,PGPEP1 IS41410,SP54988 esv29755 19 18251503 18254159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18473 S 451 0 2 JUND,MIR3188 NA12489,NA18511 nsv911274 19 18301942 18552942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530960 S 6533 0 1 C19orf50,ELL,FKBP8,GDF15,ISYNA1,LRRC25,MIR3189,PGPEP1,SSBP4,UBA52 MS10311 nsv911275 19 18345922 18447759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549981 S 6533 0 1 ELL,GDF15,ISYNA1,LRRC25,MIR3189,SSBP4 MS18276 nsv2430 19 18357428 18375937 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7430 S 9 0 1 GDF15,LRRC25,MIR3189 NA12156 nsv911276 19 18358141 18415972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510320 S 6533 0 1 ELL,GDF15,ISYNA1,LRRC25,MIR3189,SSBP4 SP54956 dgv3782n71 19 18381231 18413139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911277,nsv911278 M 6533 0 2 ISYNA1,SSBP4 SP54672,SP54988 dgv3783n71 19 18394642 18413139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911279,nsv911280 M 6533 0 5 ISYNA1,SSBP4 SP54043,SP54593,SP54684,SP55021,SP81010 nsv482217 19 18406625 18409943 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558578 S 1 1 0 ISYNA1 KB1 esv2609171 19 18414182 18414616 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256886 S 1 1 0 ELL NA18507 nsv513519 19 18414226 18414283 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625931 S 1 1 0 "" 1 nsv911281 19 18474917 18619255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590615 S 6533 0 1 C19orf50,C19orf60,CRLF1,ELL,FKBP8,KLHL26,TMEM59L,UBA52 IS38538 nsv911282 19 18485964 18789480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532530 S 6533 0 1 C19orf50,C19orf60,COMP,CRLF1,CRTC1,ELL,FKBP8,KLHL26,TMEM59L,UBA52 MS10769 nsv911283 19 18487732 18550830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510321 S 6533 0 1 C19orf50,ELL,FKBP8,UBA52 SP54956 nsv833776 19 18499028 18643264 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454610 S 95 0 1 C19orf50,C19orf60,CRLF1,FKBP8,KLHL26,TMEM59L,UBA52 nsv911284 19 18504036 18545216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511064 S 6533 0 1 C19orf50,FKBP8,UBA52 SP54988 nsv911285 19 18507932 18528472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501374 S 6533 0 1 FKBP8 SP51109 dgv3784n71 19 18513844 18672112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911286,nsv911289 M 6533 0 2 C19orf50,C19orf60,CRLF1,CRTC1,FKBP8,KLHL26,TMEM59L,UBA52 IS39233,IS39258 dgv3785n71 19 18560333 18592658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911287,nsv911291,nsv911292 M 6533 0 3 C19orf60,CRLF1,TMEM59L SP54672,SP54725,SP54988 nsv911288 19 18561047 18600497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510322 S 6533 0 1 C19orf60,CRLF1,TMEM59L SP54956 nsv911290 19 18562499 18581981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511596 S 6533 0 1 C19orf60,CRLF1 SP55021 esv24367 19 18578041 18578785 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9977 S 451 0 1 CRLF1 NA18511 esv25959 19 18607535 18608892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12495 S 451 0 1 KLHL26 NA12239 esv24559 19 18624872 18626637 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18322 S 451 1 0 KLHL26 NA12044 esv2610416 19 18661112 18661726 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234898 S 1 1 0 CRTC1 NA18507 nsv2431 19 18682366 18686055 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10176 S 9 1 0 CRTC1 NA18956 nsv2433 19 18693064 18735412 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5732,nssv6774 M 9 2 0 CRTC1 NA12156,NA19129 esv999375 19 18696599 18696601 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565589 S 3 1 0 CRTC1 HuRef dgv3786n71 19 18733917 18954619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911294,nsv911293 M 6533 0 2 CERS1,COMP,COPE,CRTC1,DDX49,GDF1,HOMER3,UPF1 IS33601,MS10311 nsv911295 19 18735483 18763592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511066 S 6533 0 1 COMP,CRTC1 SP54988 nsv911296 19 18735483 18776988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510323 S 6533 0 1 COMP,CRTC1 SP54956 nsv833777 19 18736936 18892076 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454612,nssv1454611 M 95 0 2 CERS1,COMP,COPE,CRTC1,DDX49,GDF1,UPF1 nsv2434 19 18767640 18799921 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10177 S 9 1 0 "" NA18956 dgv3787n71 19 18789480 18954619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911297,nsv911300,nsv911298 M 6533 0 3 CERS1,COPE,DDX49,GDF1,HOMER3,UPF1 IS33684,IS37646,IS39233 nsv911299 19 18800954 18845843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511597 S 6533 0 1 CERS1,GDF1,UPF1 SP55021 nsv470132 19 18825442 18915720 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546495,nssv546496,nssv546494 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CERS1,COPE,DDX49,GDF1,HOMER3,UPF1 HGDP00657,HGDP00697,HGDP00789 nsv828473 19 18836130 18855875 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422219 S 31 1 0 CERS1,GDF1,UPF1 NA18969 nsv828474 19 18836942 18839783 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427158 S 31 1 0 UPF1 AK6 nsv828477 19 18838150 18838683 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422280 S 31 1 0 UPF1 NA18997 dgv3788n71 19 18855638 18949981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911302,nsv911301 M 6533 0 3 CERS1,COPE,DDX49,GDF1,HOMER3 IS35007,IS37577,SP54956 esv28733 19 18867542 18868176 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16767 S 451 0 1 CERS1,GDF1 NA12489 nsv817819 19 18870470 18883204 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417279 S 112 0 1 COPE NA18608 nsv833778 19 18873669 19062487 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454613,nssv1454614 M 95 0 2 ARMC6,COPE,DDX49,HOMER3,SLC25A42,SUGP2 nsv2435 19 18938432 18983579 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7431 S 9 0 1 SUGP2 NA12156 nsv828478 19 18943842 18945230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427159 S 31 0 1 "" AK6 nsv833779 19 19024492 19174091 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454616,nssv1454615 M 95 0 2 ARMC6,MEF2B,MEF2BNB,MEF2BNB-MEF2B,NR2C2AP,RFXANK,SLC25A42,TMEM161A esv28513 19 19035047 19038125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17267 S 451 0 1 SLC25A42 NA12239 esv2531796 19 19088056 19088602 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320738 S 1 1 0 "" NA18507 nsv911303 19 19117870 19366087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586075 S 6533 0 1 GATAD2A,HAPLN4,MAU2,MEF2B,MEF2BNB,MEF2BNB-MEF2B,NCAN,NR2C2AP,RFXANK,SUGP1,TM6SF2 IS37646 nsv819543 19 19118144 19119357 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419200 S 2 1 0 MEF2B,MEF2BNB-MEF2B AK1 esv5981 19 19119017 19119292 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28422 S 1 0 1 MEF2B,MEF2BNB-MEF2B SJK esv1336135 19 19119022 19119296 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119562 S 2 0 1 MEF2B,MEF2BNB-MEF2B HuRef nsv911304 19 19164802 19269164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549982 S 6533 0 1 HAPLN4,NCAN,NR2C2AP,RFXANK,SUGP1,TM6SF2 MS18276 nsv911305 19 19164802 19524850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530962 S 6533 0 1 CILP2,GATAD2A,HAPLN4,MAU2,NCAN,NDUFA13,NR2C2AP,RFXANK,SUGP1,TM6SF2,TSSK6,YJEFN3 MS10311 esv2630330 19 19182777 19183262 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192043 S 1 1 0 "" NA18507 nsv911306 19 19227643 19252838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511067 S 6533 0 1 HAPLN4,SUGP1,TM6SF2 SP54988 esv1173984 19 19298527 19298527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762663 S 2 1 0 MAU2 HuRef esv1620066 19 19340862 19341274 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964821 S 2 0 1 "" HuRef nsv509723 19 19489356 19567370 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621061 S 4 1 0 CILP2,NDUFA13,PBX4,YJEFN3 NA15510 dgv3789n71 19 19492655 19524850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911307,nsv911308 M 6533 0 2 CILP2,NDUFA13,YJEFN3 SP54956,SP54988 nsv518076 19 19553579 19576794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695489 S 2026 0 1 PBX4 nsv509725 19 19581803 19637160 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623751 S 4 1 0 ATP13A1,GMIP,LPAR2,PBX4 NA18994 nsv911309 19 19588042 19645891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511069 S 6533 0 1 ATP13A1,GMIP,LPAR2,PBX4,ZNF101 SP54988 nsv911310 19 19614882 19645891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510326 S 6533 0 1 ATP13A1,GMIP,ZNF101 SP54956 nsv519533 19 19650528 19692544 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696905 S 2026 1 0 ZNF101,ZNF14 esv1277881 19 19660504 19660572 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620399 S 2 0 1 "" HuRef esv1404627 19 19660593 19660642 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046580 S 2 0 1 "" HuRef esv1092195 19 19660798 19660862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960422 S 2 0 1 "" HuRef nsv2436 19 19676858 19730171 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2212,nssv6775,nssv5733 M 9 0 3 LOC284440,ZNF14 NA12156,NA18555,NA19129 esv33937 19 19687866 19692655 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97220,essv100132 M 51 0 2 ZNF14 22075,22286 nsv911311 19 19692544 19724284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530963 S 6533 0 1 ZNF14 MS10311 nsv509726 19 19692717 19759564 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623752,nssv621062 M 4 2 0 LOC284440,ZNF14 NA15510,NA18994 esv22084 19 19693965 19700599 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11743,esv17935 M 451 18 6 ZNF14 NA06985,NA11894,NA11993,NA11995,NA12006,NA12044,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18523,NA18858,NA18907,NA18909,NA19099,NA19129,NA19147,NA19190,NA19225,NA19257 nsv828479 19 19693965 19700690 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425421,nssv1427160,nssv1436863,nssv1432560,nssv1440742,nssv1424667,nssv1431737,nssv1434090,nssv1428743,nssv1440046,nssv1423036,nssv1430696,nssv1431271 M 31 0 13 ZNF14 AK10,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18552,NA18564,NA18582,NA18592,NA18947,NA18968 nsv512566 19 19694186 19701187 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625174 S 1 0 1 ZNF14 1 nsv436259 19 19694686 19701914 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465663 S 2 0 1 Samples from several populations that are part of the HapMap project. ZNF14 NA18505 nsv498894 19 19695443 19700666 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585755 S 9 0 1 ZNF14 nsv819368 19 19696552 19700767 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419613 S 2 1 0 ZNF14 AK1 nsv821501 19 19698606 19700690 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420044 S 1 0 1 ZNF14 NA10851 nsv828480 19 19698824 19700664 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434798,nssv1422281,nssv1439381,nssv1426268,nssv1437857,nssv1423861,nssv1429501,nssv1423249,nssv1427943,nssv1438521,nssv1437127 M 31 8 3 ZNF14 AK12,AK4,AK8,NA18542,NA18547,NA18570,NA18949,NA18951,NA18973,NA18997,NA18999 nsv514892 19 19699024 19700680 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628331 S 1414 0 1 ZNF14 esv33361 19 19699073 19700649 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101543,essv101106,essv100938,essv95158,essv101416,essv94408,essv97014,essv95564,essv95267,essv97411,essv101653,essv95776,essv92755,essv96656,essv96015,essv93481,essv93397,essv95016,essv92618,essv96443,essv99185,essv97758,essv100506,essv100424,essv98397 M 51 0 25 ZNF14 21603,21618,21693,21721,21805,21808,21817,21841,21872,21879,21909,21911,21944,22011,22127,22128,22170,22231,22233,22261,22275,22278,22298,22300,22352 esv269670 19 19700643 19700728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516403 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF14 NA12814 nsv517362 19 19707458 19733093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685371,nssv693634,nssv654696,nssv651818 M 2026 0 4 LOC284440 dgv3790n71 19 19722682 19797078 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911313,nsv911312 M 6533 2 0 LOC284440,ZNF506 SP54673,SP54836 nsv458375 19 19724014 19810209 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535318 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC284440,ZNF506 HGDP00776 dgv3791n71 19 19727371 19882046 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911315,nsv911314,nsv911316 M 6533 0 7 LOC284440,ZNF253,ZNF506,ZNF93 IS30925,IS31187,IS31563,IS33196,IS33601,IS35181,IS37999 nsv519535 19 19732250 20422200 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696906 S 2026 1 0 LOC284440,MIR1270-1,MIR1270-2,ZNF253,ZNF486,ZNF506,ZNF682,ZNF826P,ZNF90,ZNF93 dgv3792n71 19 19814114 20349698 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911318,nsv911317 M 6533 2 0 ZNF253,ZNF486,ZNF682,ZNF90,ZNF93 MS11753,MS18407 esv2259143 19 19856884 19857276 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733221 S 1 0 1 ZNF253 NA18507 nsv138332 19 19857076 19857218 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156910 M 24 ZNF253 nsv458376 19 19882046 20012257 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535319 S 1557 1 0 ZNF682,ZNF93 1780854017_A nsv911319 19 19886940 20031214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502704 S 6533 1 0 ZNF682,ZNF93 SP51339 esv27490 19 19917361 19920304 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10305 S 451 0 1 "" NA19190 nsv911320 19 19922125 20229532 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557294 S 6533 1 0 ZNF486,ZNF682,ZNF90 MS22590 nsv911321 19 19956448 20162645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513380 S 6533 1 0 ZNF486,ZNF682,ZNF90 SP55748 nsv911322 19 19972134 20103274 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580725 S 6533 1 0 ZNF682,ZNF90 IS35440 dgv3793n71 19 19972994 20360525 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911323,nsv911324 M 6533 2 0 ZNF486,ZNF682,ZNF90 MS12946,MS13157 nsv512567 19 20011695 20015387 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625175 S 1 0 1 "" 1 dgv3794n71 19 20012257 20949974 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911325,nsv911326 M 6533 0 2 MIR1270-1,MIR1270-2,ZNF486,ZNF626,ZNF737,ZNF826P,ZNF85,ZNF90 IS30096,IS31067 nsv9672 19 20023638 20024700 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28455 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv1061e1 19 20028401 20290544 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv716,essv22359 M 271 0 0 ZNF486,ZNF90 NA12875 esv1739719 19 20035690 20036008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207884 S 2 0 1 "" HuRef esv2121987 19 20037552 20038214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828232 S 1 0 1 "" NA18507 esv8078 19 20037711 20038025 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30519 S 1 0 1 "" SJK esv34357 19 20070600 20178000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979076,essv6986791 M 771 1 0 ZNF486,ZNF90 NA12875 nsv817820 19 20072540 20162645 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415794 S 112 1 0 ZNF486,ZNF90 NA12875 nsv911327 19 20079177 20229532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584740 S 6533 0 1 ZNF486,ZNF90 IS37159 nsv911328 19 20079177 20293930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505144 S 6533 1 0 ZNF486,ZNF90 SP53242 essv24619 19 20079226 20152327 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ZNF486,ZNF90 NA12875 nsv520325 19 20108927 20153859 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697349 S 2026 1 0 ZNF486 esv1722861 19 20116870 20116870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831144 S 2 1 0 "" HuRef nsv911329 19 20139448 20360525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583309 S 6533 0 1 ZNF486 IS36412 nsv9673 19 20173172 20180764 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27305 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv32533 19 20174267 20176988 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101378 S 51 0 1 "" 21805 nsv911330 19 20175416 20293930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543175 S 6533 0 1 "" MS16070 esv2422327 19 20212706 20384170 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161237 S 181 0 1 MIR1270-1,MIR1270-2,ZNF826P ND03403 nsv911331 19 20233900 20413668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582513 S 6533 0 1 MIR1270-1,MIR1270-2,ZNF826P IS35974 dgv3795n71 19 20233900 20618710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911332,nsv911333 M 6533 0 2 MIR1270-1,MIR1270-2,ZNF626,ZNF737,ZNF826P IS32680,IS37546 nsv911334 19 20274862 20522325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579132 S 6533 0 1 MIR1270-1,MIR1270-2,ZNF737,ZNF826P IS35018 nsv833780 19 20283011 20453165 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454617 S 95 1 0 MIR1270-1,MIR1270-2,ZNF826P nsv523471 19 20296660 20589484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699230 S 2026 0 1 MIR1270-1,MIR1270-2,ZNF737,ZNF826P dgv1062e1 19 20321226 20566187 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9863,essv632,essv12048,essv8547,essv4224,essv6059,essv13284 M 271 0 0 MIR1270-1,MIR1270-2,ZNF737,ZNF826P NA18503,NA18603,NA18998,NA19116,NA19144,NA19201 dgv1063e1 19 20321226 20637787 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv59,essv17194,esv648 M 271 0 0 MIR1270-1,MIR1270-2,ZNF626,ZNF737,ZNF826P NA18991,NA19171 nsv817821 19 20323995 20368239 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417946 S 112 1 0 "" NA18852 dgv3796n71 19 20323995 20528316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911340,nsv911337,nsv911339,nsv911336,nsv911335,nsv911338 M 6533 0 19 MIR1270-1,MIR1270-2,ZNF737,ZNF826P IS31373,IS33894,IS35010,IS35127,IS37065,IS37226,IS37393,IS37884,IS37985,IS38166,IS38235,MS13228,MS16128,MS16808,MS17680,MS18876,MS23258,MS23798,SP56042 nsv458377 19 20323995 21503042 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535320 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC400680,MIR1270-1,MIR1270-2,ZNF429,ZNF430,ZNF431,ZNF493,ZNF626,ZNF708,ZNF714,ZNF737,ZNF738,ZNF826P,ZNF85 HGDP00598 dgv399n27 19 20350861 20522325 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458405,nsv458401,nsv458392,nsv458410,nsv458404,nsv458378,nsv458408,nsv458409,nsv458393,nsv458403,nsv458406,nsv458411,nsv458402 M 1557 0 13 MIR1270-1,MIR1270-2,ZNF737,ZNF826P 1780854197_A,1780854489_A,1798860587_A,HGDP00241,HGDP00458,HGDP00643,HGDP00647,HGDP00649,HGDP00682,HGDP00722,HGDP00766,HGDP01297,HGDP01396 dgv400n27 19 20360525 20473895 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458395,nsv458382,nsv458394,nsv458383,nsv458399,nsv458400,nsv458397,nsv458398 M 1557 0 8 MIR1270-1,MIR1270-2,ZNF826P 1780854101_A,1780854261_A,1780854517_A,1780854574_A,HGDP00035,HGDP00623,NINDS_142,NINDS_45 dgv401n27 19 20360525 20585008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458384,nsv458412 M 1557 0 2 MIR1270-1,MIR1270-2,ZNF737,ZNF826P HGDP00205,HGDP01237 nsv2437 19 20362702 20521721 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4348,nssv2213 M 9 0 2 MIR1270-1,MIR1270-2,ZNF737,ZNF826P NA12878,NA18555 nsv9674 19 20365974 20368758 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27314 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv517263 19 20368239 20562663 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658454,nssv686275,nssv669243,nssv662859,nssv669430,nssv662322,nssv682400,nssv684400,nssv688242,nssv672828,nssv668248,nssv664948,nssv685162,nssv665390,nssv678909,nssv680211,nssv682379,nssv679426,nssv664032,nssv669643,nssv680347,nssv656249,nssv673708,nssv687908,nssv672313,nssv669341,nssv684674,nssv677302,nssv659014,nssv659576,nssv688683,nssv663360,nssv674341,nssv681831,nssv677769,nssv678571,nssv677490,nssv680292,nssv665317,nssv684801,nssv672589,nssv663172,nssv688158,nssv688484,nssv677091,nssv680145,nssv658252,nssv660650,nssv654005,nssv691501,nssv666476,nssv689309,nssv653115,nssv657587,nssv652999,nssv686021,nssv673900,nssv686838,nssv653461,nssv655880,nssv672350,nssv683019,nssv666393,nssv659397,nssv684691,nssv682751,nssv693877,nssv673221,nssv664823,nssv660228,nssv664850,nssv655858,nssv684597,nssv683520,nssv665705,nssv685420,nssv651883,nssv688574,nssv686203,nssv668351,nssv673948,nssv685710,nssv687885,nssv663301,nssv652175,nssv678941,nssv667974,nssv655905,nssv680067,nssv663756,nssv665766,nssv663701,nssv693434,nssv682046,nssv689263,nssv677577,nssv675963,nssv673278,nssv688083,nssv656491,nssv686899,nssv692425,nssv656436,nssv681625,nssv659195,nssv659609,nssv665170,nssv669051,nssv670476,nssv686713,nssv660124,nssv661408,nssv685096,nssv669831,nssv688280,nssv667150,nssv664406,nssv653764,nssv668550,nssv683760,nssv667620,nssv690071,nssv688449,nssv670817,nssv654844,nssv678218,nssv682293,nssv673588,nssv671809,nssv688222,nssv685640,nssv681996,nssv682730,nssv687812,nssv669750,nssv690155,nssv680430,nssv690603,nssv673085,nssv674438,nssv674535,nssv675057,nssv655035,nssv652363,nssv690954,nssv689379,nssv662145,nssv669800,nssv667004,nssv686871,nssv652868,nssv662000,nssv653305,nssv673205,nssv678846,nssv687326,nssv672986,nssv694257,nssv690850,nssv665560,nssv690308,nssv688123,nssv673239,nssv661040,nssv660248,nssv690448,nssv693983,nssv688047,nssv652690,nssv654321,nssv654132,nssv682927,nssv671776,nssv668229,nssv676713,nssv655607,nssv664456,nssv659368,nssv689939,nssv664897,nssv668311,nssv668941,nssv679499,nssv656971,nssv665268,nssv655841,nssv657953,nssv683947,nssv693100,nssv671348,nssv677673,nssv670364,nssv693310,nssv679798,nssv664778,nssv685245,nssv684476,nssv685908,nssv676959,nssv664183,nssv671320,nssv690041,nssv683592,nssv671293,nssv693336,nssv660353,nssv701444,nssv659777,nssv675259,nssv666343,nssv669966,nssv661929,nssv661839,nssv667250,nssv688910,nssv668406,nssv652715,nssv666456,nssv702338,nssv690128,nssv686419,nssv693935,nssv686912,nssv665333,nssv657076,nssv681080,nssv689538,nssv679046 M 2026 1 227 MIR1270-1,MIR1270-2,ZNF737,ZNF826P nsv510758 19 20373933 20395826 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620117 S 4 0 1 ZNF826P NA15510 dgv54n17 19 20376443 20510677 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437181,nsv437179 M 60 0 2 ZNF826P NA12802,NA12878 nsv512568 19 20376702 20380078 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625176 S 1 0 1 ZNF826P 1 nsv510469 19 20376769 20382769 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618445,nssv624201 M 4 0 2 ZNF826P CHM,NA18994 esv33627 19 20383239 20425030 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97054 S 51 0 1 ZNF826P 21817 esv33886 19 20384800 20510816 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101512,essv96750,essv100991,essv94066,essv97074,essv101718,essv98956 M 51 3 4 ZNF826P 21603,21659,21693,21802,21817,21909,21938 nsv470134 19 20385941 20473895 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546497 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF826P HGDP00722 nsv911341 19 20386247 20473895 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574229,nssv1541290,nssv1578395,nssv1582403,nssv1551032,nssv1538818,nssv1556376,nssv1523712,nssv1557555 M 6533 0 9 ZNF826P IS33531,IS34769,IS35924,MS13774,MS15220,MS18742,MS21958,MS22754,SP54162 dgv3797n71 19 20386247 20520617 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv911342,nsv911345,nsv911348 M 6533 3 529 ZNF737,ZNF826P IS30118,IS30129,IS30152,IS30206,IS30224,IS30265,IS30278,IS30322,IS30365,IS30384,IS30466,IS30478,IS30516,IS30593,IS30605,IS30653,IS30824,IS30899,IS31044,IS31118,IS31205,IS31234,IS31282,IS31294,IS31419,IS31563,IS31576,IS31825,IS31837,IS32282,IS32343,IS32365,IS32633,IS33066,IS33188,IS33211,IS33332,IS33372,IS33403,IS33530,IS33543,IS33576,IS33596,IS33691,IS33796,IS33800,IS33839,IS34025,IS34207,IS34235,IS34346,IS34352,IS34397,IS34515,IS34714,IS34733,IS34770,IS34775,IS34782,IS34811,IS34820,IS34896,IS34951,IS35131,IS35141,IS35181,IS35255,IS35263,IS35280,IS35319,IS35412,IS35470,IS35505,IS35633,IS35788,IS35803,IS35833,IS35895,IS36064,IS36103,IS36179,IS36298,IS36312,IS36442,IS36465,IS36656,IS36728,IS36899,IS37088,IS37110,IS37149,IS37346,IS37351,IS37415,IS37421,IS37612,IS37645,IS37651,IS37743,IS37766,IS37817,IS37850,IS37990,IS38009,IS38063,IS38108,IS38122,IS38170,IS38242,IS38265,IS38330,IS38338,IS38344,IS38356,IS38386,IS38388,IS38390,IS38395,IS38430,IS38465,IS38469,IS38472,IS38515,IS38544,IS38633,IS38640,IS38644,IS38669,IS38736,IS38840,IS39000,IS39356,IS39515,IS39521,IS39656,IS39750,IS40067,IS40205,IS40292,IS40402,IS40494,IS40812,IS40849,IS40877,IS40879,IS41009,IS41041,IS41051,IS41128,IS41305,IS41456,IS41648,IS41703,IS41859,IS41884,IS41894,IS41904,IS41906,MS10106,MS10156,MS10164,MS10193,MS10195,MS10283,MS10324,MS10362,MS10574,MS10592,MS10658,MS10682,MS10686,MS10699,MS10720,MS11015,MS11057,MS11064,MS11078,MS11087,MS11171,MS11237,MS11273,MS11331,MS11361,MS11444,MS11494,MS11505,MS11525,MS11547,MS11550,MS11616,MS11669,MS11753,MS11858,MS11867,MS11883,MS12109,MS12234,MS12262,MS12353,MS12365,MS12366,MS12439,MS12475,MS12482,MS12510,MS12542,MS12555,MS12572,MS12597,MS12614,MS12624,MS12634,MS12731,MS12876,MS12963,MS12973,MS13050,MS13062,MS13179,MS13219,MS13230,MS13240,MS13288,MS13360,MS13383,MS13502,MS13511,MS13517,MS13694,MS13721,MS13735,MS14010,MS14019,MS14250,MS14313,MS14323,MS14330,MS14334,MS14384,MS14454,MS14566,MS14708,MS14986,MS15084,MS15092,MS15103,MS15168,MS15212,MS15365,MS15385,MS15386,MS15482,MS15487,MS15541,MS15554,MS15628,MS15658,MS15802,MS15813,MS15867,MS15925,MS15972,MS15991,MS16023,MS16038,MS16039,MS16122,MS16125,MS16160,MS16164,MS16211,MS16268,MS16357,MS16385,MS16393,MS16416,MS16419,MS16423,MS16447,MS16558,MS16559,MS16588,MS16616,MS16656,MS16707,MS16792,MS16793,MS16801,MS16809,MS16885,MS16902,MS17113,MS17114,MS17204,MS17231,MS17278,MS17321,MS17414,MS17438,MS17489,MS17504,MS17599,MS17677,MS17691,MS17779,MS17806,MS17830,MS17842,MS17902,MS17911,MS17958,MS17964,MS18021,MS18132,MS18159,MS18190,MS18195,MS18205,MS18209,MS18252,MS18332,MS18376,MS18387,MS18407,MS18416,MS18667,MS18694,MS18740,MS18756,MS18803,MS18821,MS18896,MS18916,MS18959,MS19003,MS19006,MS19143,MS19184,MS19267,MS19303,MS19334,MS19340,MS19556,MS19652,MS19669,MS19685,MS19705,MS20037,MS20690,MS20860,MS20888,MS20919,MS21038,MS21071,MS21356,MS21390,MS21397,MS21442,MS21457,MS21470,MS21536,MS21550,MS21563,MS21626,MS21717,MS21730,MS22088,MS22212,MS22251,MS22321,MS22393,MS22454,MS22494,MS22524,MS22742,MS22959,MS22971,MS23008,MS23077,MS23133,MS23205,MS23456,MS23532,MS23577,MS23709,MS23789,MS23791,MS23796,MS23871,MS24015,MS24100,MS24121,MS24172,MS24173,MS24244,MS24260,MS24265,MS24285,MS24426,MS24427,MS24533,MS24550,MS24587,MS24714,MS24733,MS24738,MS24783,MS24805,MS24865,MS24918,MS24932,MS25087,MS25163,MS25177,MS25254,MS25275,MS25304,MS25308,MS25331,MS25338,MS25375,MS25432,MS25484,MS25553,MS25690,MS25730,MS25768,MS25870,MS25983,MS26017,MS26061,SP50170,SP50580,SP50661,SP50700,SP50749,SP50827,SP50830,SP50831,SP50834,SP51065,SP51102,SP51112,SP51134,SP51142,SP51231,SP51241,SP51280,SP51332,SP51388,SP52243,SP52349,SP52386,SP52438,SP52500,SP52593,SP52594,SP52889,SP52893,SP52982,SP53051,SP53154,SP53252,SP53259,SP53260,SP53303,SP53447,SP53474,SP53513,SP53602,SP53802,SP53803,SP53812,SP53857,SP53876,SP54007,SP54069,SP54099,SP54110,SP54134,SP54312,SP54916,SP54921,SP54994,SP55064,SP55108,SP55122,SP55339,SP55388,SP55456,SP55498,SP55526,SP56640,SP56663,SP56701,SP56811,SP56870,SP56995,SP57138,SP57148,SP57539,SP57564,SP57593,SP57681,SP57789,SP57831,SP58068,SP58166,SP58236,SP58409,SP58536,SP80914,SP80937,SP80938,SP80960,SP80967,SP80971,SP81040,SP81080,SP81127,SP81143,SP81144,SP81194,SP81349,SP81355,SP81364,SP81389,SP81464,SP81503,SP81543,SP81554,SP81557 dgv3798n71 19 20386247 20528316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911357,nsv911369,nsv911359,nsv911371,nsv911346,nsv911343,nsv911349,nsv911353,nsv911361,nsv911354,nsv911370,nsv911358,nsv911362,nsv911347,nsv911368,nsv911352,nsv911344,nsv911351,nsv911372,nsv911350,nsv911367 M 6533 0 420 ZNF737,ZNF826P IS30054,IS30146,IS30198,IS30292,IS30340,IS30389,IS30395,IS30435,IS31133,IS31317,IS31326,IS31359,IS31634,IS31832,IS32651,IS32732,IS32770,IS32775,IS32817,IS32864,IS32892,IS33076,IS33221,IS33292,IS33632,IS33768,IS33774,IS33788,IS33836,IS34059,IS34185,IS34356,IS34381,IS34416,IS34458,IS34530,IS34531,IS34543,IS34737,IS34756,IS34762,IS34821,IS34909,IS34912,IS35100,IS35119,IS35196,IS35222,IS35242,IS35253,IS35312,IS35378,IS35379,IS35428,IS35484,IS35499,IS35548,IS35605,IS35624,IS35824,IS35853,IS35940,IS35963,IS35974,IS36071,IS36077,IS36287,IS36552,IS36766,IS36879,IS36992,IS37098,IS37247,IS37291,IS37523,IS37687,IS37778,IS37946,IS37964,IS37992,IS38037,IS38069,IS38115,IS38207,IS38270,IS38411,IS38461,IS38474,IS38508,IS38525,IS38660,IS38671,IS38818,IS38962,IS39026,IS39104,IS39116,IS39331,IS39347,IS39348,IS39369,IS39393,IS39408,IS39418,IS39428,IS39512,IS39817,IS39838,IS39860,IS39966,IS40021,IS40063,IS40156,IS40188,IS40227,IS40237,IS40247,IS40291,IS40299,IS40304,IS40307,IS40334,IS40345,IS40356,IS40374,IS40382,IS40420,IS40446,IS40544,IS40552,IS40703,IS40752,IS40757,IS40823,IS41112,IS41192,IS41525,IS41802,IS41803,IS41810,IS41837,IS41852,IS41858,IS41860,IS41883,IS41889,IS41903,IS41956,IS41964,MS10109,MS10150,MS10174,MS10177,MS10183,MS10184,MS10291,MS10350,MS10433,MS10590,MS10666,MS10784,MS10821,MS10994,MS11105,MS11137,MS11204,MS11558,MS11693,MS11733,MS12180,MS12191,MS12347,MS12493,MS12946,MS12972,MS13157,MS13362,MS13552,MS13791,MS13916,MS14247,MS14258,MS14281,MS14295,MS14485,MS14684,MS14804,MS14872,MS14905,MS15066,MS15243,MS15317,MS15389,MS15428,MS15539,MS15610,MS15642,MS15686,MS16047,MS16347,MS16349,MS16580,MS16632,MS16797,MS17028,MS17158,MS17271,MS17363,MS17563,MS17658,MS17678,MS17865,MS17906,MS18003,MS18117,MS18182,MS18192,MS18211,MS18255,MS18485,MS19035,MS19039,MS19277,MS19301,MS19503,MS19584,MS19746,MS20152,MS20850,MS21124,MS21182,MS21244,MS21758,MS22076,MS22353,MS22421,MS22854,MS23163,MS23332,MS23423,MS23566,MS24010,MS24101,MS24183,MS24210,MS24373,MS24476,MS24662,MS24749,MS24796,MS24909,MS25092,MS25172,MS25526,MS25765,MS25801,MS25891,MS26118,MS26137,SP50025,SP50061,SP50084,SP50097,SP50102,SP50110,SP50125,SP50137,SP50144,SP50159,SP50182,SP50519,SP50530,SP50561,SP50652,SP50711,SP50767,SP50772,SP50850,SP50859,SP50927,SP50963,SP50977,SP50985,SP51007,SP51022,SP51082,SP51105,SP51118,SP51145,SP51422,SP51450,SP51473,SP51477,SP52017,SP52025,SP52052,SP52101,SP52110,SP52117,SP52122,SP52165,SP52174,SP52195,SP52493,SP52700,SP52858,SP53036,SP53317,SP53401,SP53402,SP53527,SP53719,SP54002,SP54119,SP54226,SP54284,SP54356,SP54362,SP54367,SP54370,SP54373,SP54381,SP54384,SP54405,SP54429,SP54442,SP54490,SP54510,SP54556,SP54559,SP54561,SP54580,SP54585,SP54604,SP54620,SP54622,SP54645,SP54648,SP54650,SP54666,SP54722,SP54761,SP54766,SP54776,SP54789,SP54790,SP55134,SP55195,SP55264,SP55382,SP55407,SP55417,SP55557,SP55586,SP55684,SP55748,SP55791,SP55800,SP55822,SP55851,SP55856,SP55878,SP55966,SP55996,SP56022,SP56119,SP56132,SP56223,SP56260,SP56313,SP56319,SP56330,SP56458,SP56762,SP56769,SP56788,SP56834,SP56861,SP56880,SP56889,SP56937,SP56960,SP56975,SP57009,SP57173,SP57188,SP57197,SP57254,SP57273,SP57278,SP57314,SP57336,SP57368,SP57410,SP57443,SP57449,SP57455,SP57482,SP57574,SP57600,SP57754,SP57779,SP57856,SP57941,SP58382,SP80925,SP80930,SP80957,SP81059,SP81105,SP81108,SP81182,SP81333,SP81356,SP81361,SP81383,SP81407,SP81440,SP81459,SP81507 dgv3799n71 19 20386247 20576701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911355,nsv911356,nsv911373 M 6533 0 5 ZNF737,ZNF826P IS32006,IS40492,MS13095,MS20359,SP53041 nsv9675 19 20387407 20510731 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24935,nssv26748,nssv24872,nssv21670,nssv24960,nssv28456,nssv27458,nssv26029,nssv25650,nssv27365 M 31 0 9 Samples from several populations that are part of the HapMap project. ZNF826P NA10839,NA12802,NA18504,NA18517,NA18972,NA19007,NA19144,NA19173,NA19221 dgv577n67 19 20387594 20509753 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828481,nsv828484,nsv828482,nsv828483 M 31 0 7 ZNF826P AK14,AK2,NA18526,NA18542,NA18972,NA18973,NA18999 nsv498895 19 20387650 20509814 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585756 S 9 0 1 ZNF826P esv23917 19 20387675 20509639 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19084 S 451 0 5 ZNF826P NA12878,NA18517,NA19108,NA19114,NA19147 nsv514893 19 20388020 20518178 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628332 S 1414 0 1 ZNF737,ZNF826P esv2422114 19 20388046 20513074 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5136111,essv5026183,essv5125392,essv5139786,essv5067777,essv5035345,essv5011038,essv5002983,essv5057795,essv5069058,essv5029739,essv5005908,essv5056676,essv5155441,essv5095163,essv5097115,essv5156669,essv5100332,essv5079383,essv5144250,essv5144914,essv5048021,essv5129078,essv5058404,essv5009264,essv5147862,essv5072373,essv5058029,essv5102344,essv5121940,essv5030414,essv5059040,essv5072088,essv5151826,essv5009134,essv5012501,essv5032118,essv5039776,essv5089003,essv5130825,essv5076437,essv5072529,essv5157992,essv5023331,essv5029118,essv5066249,essv5028951,essv5099916,essv5129869,essv5146757,essv5041101,essv5157739,essv5062352,essv5146813,essv5118122,essv5096939,essv5117549,essv5100001,essv5082836,essv5150097,essv5003879,essv5080383,essv5054176,essv5041760,essv5048236,essv5037552,essv5160812,essv5099783,essv5065584,essv5080433,essv5005108,essv5067105,essv5022368,essv5113156,essv5032890,essv5142181,essv5128440,essv5053263,essv5158138,essv5137579,essv5150926,essv5131857,essv5154492,essv5040500,essv5099709,essv5151919,essv5010085,essv5075291,essv5145347,essv5064895,essv5152726,essv5117196,essv5069198,essv5105786,essv5077995,essv5080256,essv5141672,essv5136269,essv5142523,essv5132223,essv5050734,essv5158748,essv5015518,essv5064637,essv5154149,essv5128884,essv5004193,essv5109746,essv5138645,essv5157937,essv5062965,essv5135252,essv5128704,essv5096789,essv5093653,essv5072838,essv5062370,essv5122915,essv5136986,essv5046338,essv5058557,essv5106888,essv5141423,essv5144643,essv5047284,essv5148210,essv5156357,essv5045778,essv5096118,essv5011468,essv5038027,essv5138215,essv5082388,essv5041582,essv5025850,essv5117961,essv5085706,essv5060856,essv5103055,essv5042808,essv5049678,essv5081386,essv5039846,essv5148126,essv5110790,essv5022110,essv5046474,essv5109719,essv5066964,essv5154153,essv5011238,essv5008286,essv5085680,essv5059516,essv5012278,essv5137147,essv5112782,essv5144901,essv5010907,essv5077181,essv5062829,essv5080580,essv5015936,essv5071781,essv5141522,essv5090326,essv5013998,essv5099891,essv5096167,essv5086098,essv5113554,essv5142868,essv5009666,essv5150008,essv5061744,essv5130592,essv5121114,essv5038726,essv5083977,essv5159711,essv5116546,essv5155416,essv5074363,essv5099574,essv5113037,essv5101841,essv5013403,essv5030137,essv5154575,essv5077026,essv5028610,essv5045649,essv5021234,essv5094534,essv5117563 M 1184 0 195 ZNF737,ZNF826P NA06986,NA06997,NA10839,NA10865,NA11892,NA11917,NA12005,NA12057,NA12802,NA12815,NA12832,NA12842,NA12878,NA12889,NA12891,NA17966,NA17977,NA17983,NA17995,NA17996,NA17998,NA18106,NA18107,NA18109,NA18112,NA18133,NA18139,NA18158,NA18484,NA18486,NA18487,NA18503,NA18504,NA18517,NA18526,NA18542,NA18550,NA18555,NA18566,NA18573,NA18576,NA18582,NA18602,NA18603,NA18609,NA18613,NA18614,NA18622,NA18633,NA18634,NA18635,NA18647,NA18674,NA18702,NA18859,NA18868,NA18869,NA18873,NA18940,NA18954,NA18960,NA18961,NA18965,NA18969,NA18972,NA18973,NA18991,NA18993,NA18998,NA18999,NA19000,NA19005,NA19007,NA19055,NA19058,NA19075,NA19086,NA19088,NA19098,NA19108,NA19114,NA19115,NA19116,NA19122,NA19140,NA19144,NA19147,NA19148,NA19150,NA19151,NA19171,NA19173,NA19184,NA19189,NA19201,NA19221,NA19223,NA19247,NA19249,NA19311,NA19316,NA19377,NA19384,NA19390,NA19403,NA19437,NA19440,NA19445,NA19457,NA19660,NA19664,NA19681,NA19682,NA19683,NA19684,NA19711,NA19909,NA20281,NA20289,NA20294,NA20295,NA20341,NA20357,NA20359,NA20520,NA20527,NA20540,NA20760,NA20765,NA20769,NA20772,NA20773,NA20786,NA20787,NA20792,NA20811,NA20815,NA20847,NA20853,NA20890,NA20891,NA20892,NA20894,NA20907,NA21088,NA21089,NA21097,NA21098,NA21100,NA21103,NA21104,NA21109,NA21117,NA21123,NA21297,NA21303,NA21308,NA21309,NA21311,NA21316,NA21317,NA21318,NA21339,NA21356,NA21360,NA21361,NA21400,NA21401,NA21408,NA21418,NA21420,NA21423,NA21425,NA21438,NA21439,NA21448,NA21454,NA21457,NA21475,NA21486,NA21489,NA21510,NA21519,NA21521,NA21573,NA21599,NA21635,NA21647,NA21648,NA21683,NA21716,NA21723,NA21733,NA21738,NA21741 nsv442762 19 20388046 20513077 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZNF737,ZNF826P dgv3800n71 19 20398673 20499408 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911366,nsv911360,nsv911375,nsv911364,nsv911376,nsv911377,nsv911380,nsv911389,nsv911365,nsv911378,nsv911390,nsv911363 M 6533 0 65 ZNF826P IS30295,IS30515,IS30781,IS32850,IS33256,IS33675,IS34108,IS34218,IS37458,IS38031,IS38111,IS39061,IS40588,IS40867,IS41950,MS10443,MS10549,MS11980,MS12149,MS12561,MS12734,MS12771,MS13030,MS14284,MS15942,MS16406,MS16667,MS16859,MS17232,MS18648,MS18978,MS19324,MS19917,MS24995,MS25227,MS25833,SP50721,SP50723,SP51062,SP51161,SP51192,SP52470,SP52723,SP53368,SP53473,SP53572,SP54030,SP54112,SP54196,SP54299,SP54345,SP54471,SP54760,SP54879,SP55106,SP55829,SP55834,SP56863,SP56926,SP57140,SP57163,SP57672,SP58465,SP81047,SP81488 esv270143 19 20399325 20400601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513849 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF826P NA19143 dgv17n14 19 20404485 20514068 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433317,nsv433315 M 9 0 2 ZNF737 NA18517,NA18555 nsv433316 19 20413668 20473895 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463197 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv3801n71 19 20413668 20493452 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911374,nsv911398 M 6533 0 3 "" IS40618,MS14210,SP51031 dgv3802n71 19 20413668 20528316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911379,nsv911384,nsv911382,nsv911385,nsv911387,nsv911386,nsv911397,nsv911383,nsv911391,nsv911392,nsv911381,nsv911393,nsv911399,nsv911394,nsv911396 M 6533 0 323 ZNF737 IS30063,IS30180,IS30372,IS30597,IS30763,IS30766,IS30771,IS31011,IS31142,IS31144,IS31286,IS31481,IS31558,IS31703,IS31766,IS31812,IS31816,IS31879,IS31904,IS31915,IS31971,IS32361,IS32411,IS32607,IS32819,IS32918,IS33178,IS33263,IS33552,IS33771,IS33948,IS33959,IS34083,IS34262,IS34363,IS34630,IS34687,IS34837,IS34895,IS35027,IS35240,IS35506,IS35582,IS35691,IS36438,IS36612,IS36820,IS37029,IS37467,IS37609,IS37730,IS37874,IS37975,IS38064,IS38072,IS38113,IS38182,IS38191,IS38228,IS38240,IS38322,IS38352,IS38403,IS38554,IS38592,IS38972,IS39057,IS39119,IS39254,IS39388,IS39944,IS39996,IS40062,IS40145,IS40248,IS40347,IS40415,IS40458,IS40582,IS41204,IS41284,IS41331,IS41868,MS10580,MS10615,MS10714,MS10764,MS10816,MS10848,MS10937,MS10973,MS11218,MS11312,MS11435,MS11556,MS11726,MS11746,MS11886,MS12041,MS12196,MS12244,MS12266,MS12281,MS12432,MS12544,MS12640,MS12642,MS12718,MS12913,MS12938,MS13098,MS13118,MS13206,MS13211,MS13241,MS13359,MS13401,MS13629,MS13716,MS13771,MS14266,MS14316,MS14343,MS14345,MS14353,MS14421,MS14433,MS14500,MS14637,MS14644,MS14702,MS14717,MS14801,MS14851,MS14855,MS14938,MS14942,MS14953,MS15050,MS15060,MS15167,MS15191,MS15347,MS15382,MS15997,MS16124,MS16213,MS16315,MS16467,MS16506,MS16677,MS16832,MS16863,MS16949,MS16981,MS17036,MS17120,MS17223,MS17373,MS17485,MS17536,MS17562,MS17689,MS17718,MS18053,MS18116,MS18149,MS18273,MS18677,MS18911,MS19011,MS19119,MS19177,MS19341,MS19487,MS19645,MS19700,MS19777,MS20042,MS20269,MS20302,MS20406,MS20510,MS20520,MS20543,MS20632,MS20885,MS21088,MS21192,MS21194,MS21252,MS22245,MS22279,MS22306,MS22343,MS22590,MS22639,MS22644,MS22653,MS22797,MS22928,MS22999,MS23054,MS23142,MS23191,MS23541,MS23669,MS23670,MS23725,MS23787,MS23997,MS24045,MS24141,MS24400,MS24439,MS24692,MS24701,MS24792,MS24886,MS24897,MS25052,MS25259,MS25294,MS25357,MS25580,MS25831,MS26030,SP50571,SP50637,SP50660,SP50746,SP50776,SP51069,SP51188,SP51197,SP51242,SP51377,SP52027,SP52058,SP52077,SP52175,SP52263,SP52274,SP52299,SP52328,SP52399,SP52430,SP52626,SP52627,SP52701,SP52719,SP52724,SP52751,SP52762,SP53221,SP53415,SP53493,SP53509,SP53585,SP53616,SP54083,SP54164,SP54220,SP54225,SP54275,SP54337,SP54802,SP54833,SP54937,SP55026,SP55125,SP55174,SP55290,SP55507,SP55558,SP55624,SP55764,SP55774,SP55992,SP56041,SP56084,SP56100,SP56347,SP56419,SP56582,SP56856,SP56887,SP57045,SP57058,SP57062,SP57105,SP57158,SP57201,SP57226,SP57610,SP57700,SP57925,SP58026,SP58097,SP58182,SP58215,SP58305,SP58373,SP80982,SP81010,SP81077,SP81095,SP81189,SP81191,SP81197,SP81198,SP81276,SP81280,SP81339,SP81354,SP81386,SP81397,SP81399,SP81414,SP81431,SP81467,SP81512,SP81533 nsv911388 19 20413668 20558498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598807 S 6533 1 0 ZNF737 IS40843 nsv507889 19 20418948 20424948 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619215,nssv623257 M 4 2 0 "" NA10860,NA18994 dgv578n67 19 20422023 20509753 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828488,nsv828486,nsv828485 M 31 0 3 "" NA18566,NA18582,NA18969 nsv458413 19 20422200 20439390 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535347 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00195 nsv458414 19 20422200 20473895 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535348 S 1557 0 1 "" 1798860280_A nsv817822 19 20422200 20473895 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417466,nssv1416272,nssv1416508,nssv1416610,nssv1416280,nssv1417728,nssv1416609,nssv1416200,nssv1417485,nssv1417330,nssv1416201,nssv1418228,nssv1417568,nssv1417679,nssv1418229,nssv1417215,nssv1417170,nssv1417141 M 112 0 18 "" NA12057,NA12878,NA12891,NA18517,NA18542,NA18550,NA18576,NA18609,NA18960,NA18965,NA18972,NA18999,NA19003,NA19140,NA19144,NA19145,NA19171,NA19173 nsv911395 19 20422200 20520617 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600869,nssv1545330,nssv1561213,nssv1520166,nssv1540819,nssv1563093,nssv1529616,nssv1540061 M 6533 1 7 ZNF737 IS41938,MS10074,MS14679,MS15041,MS16722,MS24877,MS25854,SP50720 dgv402n27 19 20422200 20528316 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458488,nsv458435,nsv458487,nsv458454,nsv458465,nsv458476,nsv458447,nsv458475,nsv458473,nsv458451,nsv458453,nsv458420,nsv458502,nsv458428,nsv458471,nsv458464,nsv458503,nsv458456,nsv458430,nsv458417,nsv458472,nsv458432,nsv458468,nsv458482,nsv458433,nsv458458,nsv458415,nsv458422,nsv458450,nsv458470,nsv458481,nsv458445,nsv458469,nsv458480,nsv458426,nsv458459,nsv458443,nsv458462,nsv458477,nsv458431,nsv458419,nsv458467,nsv458444,nsv458478,nsv458449,nsv458434,nsv458416,nsv458439,nsv458446,nsv458455,nsv458460,nsv458424,nsv458425,nsv458437,nsv458483,nsv458438,nsv458423,nsv458486,nsv458421,nsv458442,nsv458457,nsv458436,nsv458427,nsv458479,nsv458484,nsv458448,nsv458466,nsv458461 M 1557 0 68 ZNF737 1780854023_A,1780854079_A,1780854096_A,1780854313_A,1782681091_A,1787431197_A,1788485381_A,HGDP00001,HGDP00052,HGDP00058,HGDP00080,HGDP00082,HGDP00096,HGDP00116,HGDP00130,HGDP00161,HGDP00173,HGDP00187,HGDP00199,HGDP00210,HGDP00258,HGDP00274,HGDP00333,HGDP00351,HGDP00417,HGDP00546,HGDP00554,HGDP00561,HGDP00587,HGDP00601,HGDP00619,HGDP00663,HGDP00700,HGDP00723,HGDP00736,HGDP00739,HGDP00745,HGDP00764,HGDP00781,HGDP00885,HGDP00931,HGDP00936,HGDP00948,HGDP00949,HGDP00963,HGDP00966,HGDP00973,HGDP01064,HGDP01069,HGDP01074,HGDP01094,HGDP01152,HGDP01172,HGDP01187,HGDP01191,HGDP01197,HGDP01212,HGDP01290,HGDP01301,HGDP01303,HGDP01305,HGDP01340,HGDP01380,HGDP01383,HGDP01400,NINDS_259,NINDS_29,NINDS_93 dgv403n27 19 20422200 20585008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458491,nsv458506,nsv458492,nsv458504,nsv458490,nsv458489,nsv458493 M 1557 0 7 ZNF737 1780854538_A,1780854594_A,1780862001_A,HGDP00622,HGDP00758,HGDP01156,NINDS_156 dgv1064e1 19 20424240 20515739 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2958,essv1330,essv1653,essv3663,essv3490,essv758,essv14675,essv8899,essv5885,essv13985,essv7988,essv7254,essv20704,essv12103,essv4341,essv22018,essv6102,essv710,essv7470 M 271 0 0 ZNF737 NA12802,NA12815,NA18573,NA18576,NA18622,NA18633,NA18635,NA18940,NA18961,NA18972,NA18973,NA18991,NA18999,NA19003,NA19098,NA19145,NA19171,NA19173,NA19221 dgv1065e1 19 20424240 20551548 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2918,essv21924,essv24344,essv3911,essv17992,essv7435,essv18786,essv5857,essv2729,essv3594 M 271 0 0 ZNF737 NA10839,NA12005,NA12057,NA12891,NA18555,NA18582,NA18960,NA18965,NA18969,NA19007 nsv817823 19 20439390 20473895 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416689 S 112 0 1 "" NA19116 nsv458508 19 20449621 20455154 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535434 S 1557 0 1 "" 1780854216_A nsv458509 19 20473895 20523385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535435 S 1557 0 1 ZNF737 NINDS_127 nsv523499 19 20473895 20582566 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699268 S 2026 1 0 ZNF737 dgv579n67 19 20473940 20506209 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828489,nsv828490 M 31 0 2 "" AK2,NA18972 dgv3803n71 19 20482954 20576701 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911400,nsv911401 M 6533 2 0 ZNF737 IS40577,MS10102 nsv828491 19 20493201 20505985 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430250 S 31 0 1 "" AK14 dgv3804n71 19 20507068 20599273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911403,nsv911406,nsv911402,nsv911404 M 6533 0 5 ZNF626,ZNF737 IS40657,IS41884,MS19303,MS20843,SP55878 nsv911405 19 20507068 20618710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582514 S 6533 0 1 ZNF626,ZNF737 IS35974 esv2751781 19 20528668 20777265 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985841,essv6987280,essv6985842,essv6985843 M 771 1 0 ZNF626,ZNF737 SPC_65 esv267467 19 20537790 20538128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519328,essv2517441,essv2514807,essv2518568,essv2514964,essv2516611,essv2518089,essv2515926,essv2517786,essv2517190,essv2513838,essv2518224,essv2513618 M 157 13 0 Samples from several populations that are part of the HapMap project. ZNF737 NA07347,NA11894,NA11918,NA12234,NA12287,NA12812,NA12814,NA12872,NA12873,NA12878,NA18970,NA19143,NA19240 esv274568 19 20537790 20538128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581627,essv2581141 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNF737 NA12878,NA19240 esv1696645 19 20537828 20537828 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001467 S 2 1 0 ZNF737 HuRef esv995759 19 20542636 20553326 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586453 S 3 0 1 "" HuRef esv28775 19 20544441 20553326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13622,esv12204 M 451 0 9 "" NA06985,NA12004,NA12044,NA12414,NA12828,NA12878,NA18916,NA19129,NA19240 esv1615641 19 20562158 20562158 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986530 S 2 1 0 "" HuRef dgv3805n71 19 20576701 20677651 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911407,nsv911408 M 6533 0 2 ZNF626 MS22765,SP55878 nsv9676 19 20588542 20594641 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25672,nssv24841 M 31 2 0 Samples from several populations that are part of the HapMap project. ZNF626 NA18564,NA19173 nsv828492 19 20592586 20593926 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431010 S 31 1 0 "" AK16 esv27457 19 20592635 20593903 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12717,esv21296 M 451 4 0 "" NA12156,NA18517,NA19225,NA19257 esv1003988 19 20592734 20674837 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565221 S 3 0 0 ZNF626 HuRef dgv71e19 19 20592924 20675983 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv5836,esv7950 M 1 0 0 ZNF626 SJK nsv820682 19 20593167 20593926 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420045 S 1 0 1 "" NA10851 nsv828493 19 20593167 20593926 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422282,nssv1430718,nssv1423037 M 31 3 0 "" NA18552,NA18968,NA18997 dgv580n67 19 20593389 20593926 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828495,nsv828494 M 31 5 0 "" AK2,NA18526,NA18564,NA18566,NA18949 esv2573650 19 20593743 20675993 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368829 S 1 0 0 ZNF626 NA18507 nsv436702 19 20597114 20674868 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465664 S 2 0 0 Samples from several populations that are part of the HapMap project. ZNF626 NA18505 esv1010023 19 20598974 20599140 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566982 S 3 0 1 ZNF626 HuRef esv1100051 19 20599018 20599185 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282100 S 2 0 1 ZNF626 HuRef nsv510470 19 20611872 20617872 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624202,nssv618446 M 4 0 2 ZNF626 CHM,NA18994 esv2751782 19 20613342 20777300 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983784,essv6987415 M 771 1 0 ZNF626 BEC_626 nsv458512 19 20618532 20833190 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535436 S 1557 1 0 ZNF626 1780862577_A nsv911409 19 20618710 20793016 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586750 S 6533 1 0 ZNF626 IS37969 dgv404n27 19 20625937 20779390 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458524,nsv458515,nsv458516,nsv458514 M 1557 4 0 ZNF626 1780854063_A,1780862408_A,1782681317_A,NINDS_110 nsv517256 19 20625937 20779390 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686022,nssv677612,nssv686464,nssv671810,nssv654133,nssv687665 M 2026 6 0 ZNF626 nsv911410 19 20699919 20793016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568994 S 6533 0 1 "" IS31385 nsv507890 19 20802708 20808708 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619216,nssv623258 M 4 2 0 "" NA10860,NA18994 dgv201n21 19 20833190 20901624 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522090,nsv515576 M 2026 0 12 ZNF85 nsv509727 19 20836977 20905163 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623753,nssv619745 M 4 2 0 ZNF85 NA10860,NA18994 esv1650449 19 20854990 20854990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601139 S 2 1 0 "" HuRef nsv2438 19 20877999 20908466 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10991 S 9 1 0 ZNF85 NA15510 esv1007478 19 20884511 20884511 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569472 S 3 1 0 "" HuRef esv1474484 19 20884557 20884557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140342 S 2 1 0 "" HuRef esv2474386 19 20893679 20894321 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383453 S 1 1 0 "" NA18507 esv1454581 19 20893831 20893831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104812 S 2 1 0 "" HuRef esv275329 19 20933033 20937234 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585313 S 1250 0 1 "" nsv515577 19 20944207 20956239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660735,nssv659534,nssv676108,nssv674832,nssv664916,nssv692609,nssv662762,nssv661904,nssv665994,nssv671710,nssv673604,nssv657277,nssv656571,nssv691907,nssv664216,nssv686106,nssv686714,nssv657319,nssv658822,nssv693936,nssv682805,nssv687174,nssv678730,nssv672923,nssv663945,nssv663126,nssv690402,nssv681391,nssv687294 M 2026 0 29 "" esv33140 19 20949267 20949451 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94258 S 51 1 0 "" 22394 esv2421972 19 20949730 20957007 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5008620,essv5050258,essv5122981,essv5091044,essv5101183,essv5082070,essv5053828,essv5100825,essv5046807,essv5134993,essv5142719,essv5039976,essv5111842,essv5080110,essv5146790,essv5153228,essv5079158,essv5018779,essv5102069,essv5119223,essv5122181,essv5009525,essv5028967,essv5117559 M 1184 0 24 "" NA11992,NA19146,NA19148,NA19172,NA19176,NA19210,NA19236,NA19237,NA19310,NA19398,NA19438,NA19455,NA19467,NA19909,NA20334,NA20335,NA20336,NA20337,NA21364,NA21582,NA21632,NA21723,NA21733,NA21776 nsv817824 19 20949974 20956239 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416611 S 112 0 1 "" NA19172 nsv911411 19 20976373 21055358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512862 S 6533 0 1 ZNF430 SP55647 nsv2439 19 20978765 21011480 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6776 S 9 1 0 ZNF430 NA12156 esv272073 19 20988310 20988395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515067 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv1456117 19 20994442 20994442 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330787 S 2 1 0 "" HuRef esv1762547 19 20994473 20994473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128240 S 2 1 0 "" HuRef esv1634993 19 21000732 21001041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965245 S 2 0 1 ZNF430 HuRef nsv911412 19 21025228 21089198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515615 S 6533 0 1 ZNF430,ZNF714 SP56224 nsv911413 19 21055358 21139438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511711 S 6533 1 0 ZNF431,ZNF714 SP55034 dgv72e19 19 21060368 21128162 CNV Loss Ahn et al 2009 19470904 Sequencing esv5909,esv7695,esv7204 M 1 0 1 ZNF431,ZNF714 SJK esv5243 19 21064388 21126510 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27684 S 1 0 1 Single Asian sample YH ZNF431,ZNF714 YH esv4924 19 21083872 22934034 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27365 S 1 0 0 Single Asian sample YH LOC400680,LOC440518,LOC641367,ZNF100,ZNF208,ZNF257,ZNF429,ZNF43,ZNF431,ZNF492,ZNF493,ZNF676,ZNF708,ZNF714,ZNF729,ZNF738,ZNF98,ZNF99 YH nsv520833 19 21105942 21106614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694403 S 2026 0 1 "" nsv911414 19 21147313 21246512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558364 S 6533 0 1 ZNF431 MS23237 dgv3806n71 19 21180835 21279010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911419,nsv911415 M 6533 0 3 ZNF708 IS33475,IS35911,MS25963 dgv3807n71 19 21180835 21355841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911417,nsv911416 M 6533 0 2 ZNF708,ZNF738 IS31067,IS31706 nsv911418 19 21182448 21246512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590294,nssv1584633,nssv1569357 M 6533 0 3 "" IS31563,IS37098,IS38487 nsv517759 19 21183684 21212722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673141,nssv680537,nssv692671,nssv653141,nssv661714 M 2026 0 5 "" nsv911420 19 21246512 21405237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581432 S 6533 0 1 ZNF493,ZNF708,ZNF738 IS35572 esv2751783 19 21257662 21518177 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989401,essv6989884,essv6983949,essv6983950 M 771 0 1 LOC400680,ZNF429,ZNF493,ZNF708,ZNF738 BEC_737 esv2328342 19 21305625 21306068 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931612 S 1 0 1 "" NA18507 esv998496 19 21305810 21305996 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584244 S 3 0 1 "" HuRef esv1407709 19 21305810 21305997 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158194 S 2 0 1 "" HuRef nsv507891 19 21307212 21313212 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619217,nssv617942 M 4 2 0 "" CHM,NA10860 nsv911421 19 21371558 21405237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509154 S 6533 0 1 ZNF493 SP54753 nsv138313 19 21417637 21420273 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156891 M 24 "" nsv138282 19 21417637 21426681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156860 M 24 "" esv23261 19 21428050 21429849 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16977 S 451 0 1 "" NA19129 esv33676 19 21428053 21428509 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96873 S 51 0 1 "" 21659 nsv833782 19 21455377 21637562 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454618,nssv1454619,nssv1454620,nssv1454621 M 95 0 4 LOC400680,ZNF429 nsv510759 19 21456631 21515031 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622746 S 4 0 1 LOC400680,ZNF429 NA18994 esv1010333 19 21507590 21511483 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564384 S 3 1 0 ZNF429 HuRef esv6839 19 21508932 21509186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29280 S 1 0 1 ZNF429 SJK nsv510923 19 21521532 21549970 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621644 S 4 0 0 "" NA15510 dgv581n67 19 21537635 21561973 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828504,nsv828500,nsv828503,nsv828501,nsv828496,nsv828502,nsv828505 M 31 8 0 "" AK10,AK14,AK6,NA18542,NA18564,NA18592,NA18951,NA18999 esv23791 19 21540540 21558083 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12177,esv11151,esv14673,esv20264,esv12116 M 451 18 0 "" NA12044,NA12156,NA12287,NA12414,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA19099,NA19108,NA19114,NA19147,NA19240,NA19257 dgv582n67 19 21541040 21555098 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828497,nsv828499 M 31 3 0 "" AK4,AK8,NA18547 nsv828506 19 21541666 21546774 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424670 S 31 1 0 "" NA18582 nsv911422 19 21543849 21765769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530964 S 6533 0 1 LOC641367,ZNF100 MS10311 esv1989469 19 21548867 21549397 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575974 S 1 0 1 "" NA18507 esv2170315 19 21550328 21550948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648844 S 1 0 1 "" NA18507 nsv828507 19 21557845 21558357 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427945,nssv1423275 M 31 2 0 "" AK8,NA18547 nsv911423 19 21575835 21650834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578364,nssv1531339 M 6533 0 2 "" IS34762,MS10393 nsv7306 19 21587741 22072901 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10179,nssv10178 M 9 0 0 LOC641367,ZNF100,ZNF208,ZNF257,ZNF43 NA18956 nsv528643 19 21588783 21590281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705275 S 2026 0 1 "" dgv3808n71 19 21590281 22262996 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911424,nsv911425 M 6533 2 0 LOC641367,ZNF100,ZNF208,ZNF257,ZNF43,ZNF676,ZNF729 IS31251,IS40012 esv1522649 19 21610798 21610798 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288851 S 2 1 0 "" HuRef nsv138061 19 21610799 21620561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156639 M 24 "" nsv833783 19 21613246 21783678 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454622 S 95 0 1 LOC641367,ZNF100,ZNF43 esv25565 19 21616520 21625673 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11535 S 451 1 0 "" NA12828 dgv73e19 19 21620571 21713043 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9546,esv7735,esv6191 M 1 0 0 ZNF100 SJK dgv3809n71 19 21683880 21765769 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911426,nsv911427 M 6533 2 0 LOC641367,ZNF100 IS40728,SP52165 nsv512569 19 21694287 21697754 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625178 S 1 0 1 "" 1 esv2495874 19 21694318 21698119 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194574 S 1 0 1 "" NA18507 esv1006184 19 21694320 21697694 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564327 S 3 0 1 "" HuRef nsv833784 19 21694487 21828993 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454624,nssv1454623 M 95 0 2 LOC641367,ZNF100,ZNF43 esv2343977 19 21694720 21697598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947065 S 1 0 1 "" NA18507 esv2578515 19 21694897 21700320 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383199 S 1 0 1 ZNF100 NA18507 esv24427 19 21773079 21775849 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12961 S 451 0 1 "" NA18511 dgv1066e1 19 21777328 22982374 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25160,essv21861 M 271 0 0 LOC440518,ZNF208,ZNF257,ZNF43,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 NA11839 esv731 19 21777328 23732307 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 LOC440518,ZNF208,ZNF257,ZNF43,ZNF492,ZNF675,ZNF676,ZNF681,ZNF729,ZNF91,ZNF98,ZNF99 dgv3810n71 19 21778132 21902059 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911428,nsv911430,nsv911429 M 6533 0 3 ZNF43 MS14919,MS21550,SP54581 dgv3811n71 19 21818119 21902059 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911433,nsv911432,nsv911431 M 6533 0 32 "" IS31070,MS10739,MS11002,MS11019,MS11057,MS12050,MS12791,MS12812,MS13232,MS13795,MS14764,MS15630,MS15782,MS16108,MS16158,MS16588,MS16656,MS16837,MS17221,MS18332,MS18694,MS21863,MS23579,MS23949,MS24497,MS24736,MS24886,MS25436,MS25683,MS25745,MS25854,SP58164 esv34340 19 21818621 22864300 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987328,essv6978112,essv6978111,essv6978110,essv6978109,essv6987327 M 771 0 1 LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 NA11839 nsv833785 19 21873983 22055152 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454625 S 95 1 0 ZNF208,ZNF257 esv1719837 19 21888810 21888810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100985 S 2 1 0 "" HuRef nsv436853 19 21911213 22904112 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465666 S 2 1 0 Samples from several populations that are part of the HapMap project. LOC440518,ZNF208,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 NA18505 nsv469674 19 21946355 22136832 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649604 M 265 0 0 Samples from several populations that are part of the HapMap project. ZNF208,ZNF257 nsv436253 19 21980319 22177052 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465667 S 2 0 1 Samples from several populations that are part of the HapMap project. ZNF208,ZNF257,ZNF676 NA18505 esv28016 19 22003623 22018785 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21410 S 451 1 0 "" NA18861 nsv911434 19 22007297 22229909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528052 S 6533 1 0 ZNF257,ZNF676 SP81109 nsv436857 19 22015354 22221269 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465668 S 2 1 0 Samples from several populations that are part of the HapMap project. ZNF257,ZNF676 NA18505 nsv911435 19 22025349 22108988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600684 S 6533 0 1 ZNF257 IS41909 nsv520741 19 22041976 22113096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683948,nssv674876 M 2026 0 2 ZNF257 nsv470135 19 22041977 22113096 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546499 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF257 HGDP01266 nsv525240 19 22042752 23008507 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701330 S 2026 1 0 LOC440518,ZNF257,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 dgv3812n71 19 22044663 22156460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911436,nsv911437 M 6533 0 2 ZNF257,ZNF676 IS39944,MS20630 nsv911438 19 22069961 22138243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574751 S 6533 0 1 "" IS33616 dgv3813n71 19 22117231 22691425 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911445,nsv911439,nsv911442,nsv911443 M 6533 4 0 LOC440518,ZNF492,ZNF676,ZNF729,ZNF98 IS41224,MS10156,MS20346,MS26030 dgv3814n71 19 22117231 23008507 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911444,nsv911440 M 6533 2 0 LOC440518,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 MS11119,MS15487 nsv833786 19 22126684 22292691 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454626 S 95 1 0 ZNF676,ZNF729 dgv3n43 19 22128104 23015536 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819205,nsv819194 M 2 1 0 LOC440518,ZNF492,ZNF676,ZNF729,ZNF98,ZNF99 AK1 nsv911441 19 22129982 22391962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544128 S 6533 1 0 ZNF676,ZNF729,ZNF98 MS16266 nsv469671 19 22133661 22288914 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649601 M 265 0 0 Samples from several populations that are part of the HapMap project. ZNF676,ZNF729 nsv9677 19 22138302 22139215 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24525 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv9678 19 22139594 22153540 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26759,nssv27446,nssv26049,nssv28457,nssv25256,nssv27374 M 31 1 5 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517,NA18980,NA19144,NA19221 nsv2440 19 22141755 22175664 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7432 S 9 1 0 ZNF676 NA12156 esv1004381 19 22155493 22155576 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565909 S 3 0 1 ZNF676 HuRef esv1536549 19 22155665 22155665 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034945 S 2 1 0 ZNF676 HuRef nsv509728 19 22198410 22198410 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621063 S 4 1 0 "" NA15510 nsv9679 19 22199151 22240276 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24551 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv2441 19 22202771 22208037 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1440,nssv10180,nssv5734 M 9 3 0 "" NA18956,NA19129,NA19240 esv29842 19 22206556 22248719 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10678,esv20683 M 451 1 1 "" NA18861,NA18916 nsv442456 19 22216254 22218356 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515993 19 22229909 22242762 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665627,nssv666178,nssv703591 M 2026 3 0 "" nsv817825 19 22229909 22242762 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417947 S 112 1 0 "" NA18853 esv2267871 19 22300785 22301309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632419 S 1 0 1 "" NA18507 essv3682 19 22310497 22372715 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ZNF98 NA18943 esv991355 19 22320536 22321821 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586522 S 3 1 0 "" HuRef esv29222 19 22320608 22321320 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14439 S 451 1 0 "" NA19257 nsv911446 19 22321405 22373668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500678,nssv1507747 M 6533 0 2 ZNF98 SP50017,SP54593 dgv1067e1 19 22325357 22372453 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3572,essv1674 M 271 0 0 ZNF98 NA18987,NA18992 nsv442457 19 22325358 22358984 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv911447 19 22329702 22457456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550658,nssv1553367,nssv1598183 M 6533 0 3 ZNF98 IS41113,MS18529,MS19955 esv2751784 19 22358984 24297500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988446,essv6985665,essv6981745,essv6981746,essv6981747 M 771 1 0 LOC100101266,LOC440518,RPSAP58,ZNF254,ZNF492,ZNF675,ZNF681,ZNF726,ZNF91,ZNF98,ZNF99 BEC_333 esv1314456 19 22366580 22367000 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663857 S 2 0 1 ZNF98 HuRef nsv516536 19 22402580 22414593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673994,nssv668973 M 2026 0 2 "" nsv911448 19 22414593 22591133 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544129 S 6533 1 0 LOC440518 MS16266 nsv138421 19 22415646 22415840 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156999 M 24 "" nsv911449 19 22426892 22462168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567796 S 6533 0 1 "" IS31145 nsv833787 19 22430858 22603985 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454627 S 95 1 0 LOC440518 nsv458526 19 22431189 22462840 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535442 S 1557 0 1 "" NINDS_142 esv272902 19 22451319 22451682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579008,essv2579406 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv518685 19 22485436 22488541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696136 S 2026 0 1 "" nsv9681 19 22500564 22507918 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26770 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv911450 19 22542595 22572657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534771,nssv1529890 M 6533 0 2 LOC440518 MS10123,MS11726 nsv9682 19 22559099 22561064 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26068,nssv27383 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19144 esv2541735 19 22559437 22560901 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366317 S 1 0 1 "" NA18507 esv1930056 19 22559809 22560511 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504062 S 1 0 1 "" NA18507 esv9356 19 22559985 22560314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31797 S 1 0 1 "" SJK esv2521496 19 22559989 22560311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290105 S 1 0 1 "" NA18507 nsv911451 19 22618568 22990277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544130 S 6533 1 0 ZNF492,ZNF99 MS16266 nsv9683 19 22626147 22627934 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26087,nssv24866 M 31 0 2 Samples from several populations that are part of the HapMap project. ZNF492 NA18564,NA19144 esv2236506 19 22626678 22627146 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829118 S 1 0 1 ZNF492 NA18507 nsv9684 19 22639995 22646307 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27323 S 31 0 1 Samples from several populations that are part of the HapMap project. ZNF492 NA19132 nsv9685 19 22661443 22664981 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27332 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 dgv138e55 19 22714389 23474937 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34470,esv34907 M 771 2 0 ZNF91,ZNF99 NA19144,NA19145 nsv509729 19 22721804 22818468 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619746 S 4 1 0 ZNF99 NA10860 nsv510881 19 22721804 22818468 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621645 S 4 0 0 ZNF99 NA15510 nsv911452 19 22730358 23008507 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563460 S 6533 1 0 ZNF99 MS26030 esv2284083 19 22730665 22731591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934043 S 1 0 1 ZNF99 NA18507 esv990916 19 22730824 22731407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582472 S 3 0 1 ZNF99 HuRef esv1780124 19 22731450 22731952 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046651 S 2 0 1 ZNF99 HuRef esv2126648 19 22732544 22733604 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622522 S 1 0 1 ZNF99 NA18507 nsv507892 19 22745015 22751015 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617943,nssv623259 M 4 2 0 ZNF99 CHM,NA18994 esv1007183 19 22746477 22747304 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564383 S 3 1 0 ZNF99 HuRef esv1611747 19 22746539 22746539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230110 S 2 1 0 ZNF99 HuRef essv17031 19 22774966 23732307 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ZNF675,ZNF681,ZNF91 NA19144 dgv1068e1 19 22779523 23514066 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9849,essv9943,essv14661 M 271 0 0 ZNF91 NA19144,NA19145 nsv9686 19 22781294 23445590 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25319,nssv23898,nssv24663,nssv25292,nssv27422,nssv27359,nssv27341,nssv25746,nssv24921,nssv24689,nssv28460,nssv24971,nssv27456,nssv24927,nssv24120,nssv27350,nssv23640,nssv24741,nssv24661,nssv27470,nssv21971,nssv24952,nssv24196,nssv25010,nssv24637,nssv25306,nssv26106,nssv22001,nssv21820,nssv27466,nssv21790,nssv24146,nssv25694,nssv25344,nssv26792,nssv22219,nssv26476,nssv26781,nssv24170,nssv25768,nssv25273,nssv27448,nssv26803,nssv23871,nssv24172,nssv24222,nssv26833,nssv21700,nssv26800,nssv22189,nssv28459,nssv25281,nssv27708,nssv27715,nssv24715,nssv27462,nssv26844,nssv24985,nssv21730,nssv27440,nssv27454,nssv23925,nssv24109,nssv24635,nssv25317,nssv28458,nssv24712,nssv21545,nssv27474,nssv27431,nssv26822,nssv24946,nssv24686,nssv26811,nssv26814 M 31 30 15 Samples from several populations that are part of the HapMap project. ZNF91 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv817826 19 22792585 23412472 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418230,nssv1418231 M 112 2 0 ZNF91 NA19144,NA19145 nsv911453 19 22815454 22905004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569289 S 6533 0 1 "" IS31554 dgv3815n71 19 22815454 22945590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911455,nsv911454 M 6533 0 2 "" IS33240,IS35701 nsv911456 19 22815454 23008507 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529976 S 6533 1 0 "" MS10156 esv1092892 19 22837088 22837147 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152502 S 2 0 1 "" HuRef nsv828508 19 22851981 22888322 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430729 S 31 1 0 "" NA18968 nsv2442 19 22886865 22918039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10181 S 9 1 0 "" NA18956 nsv2444 19 22897277 22943005 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5735 S 9 0 1 "" NA19129 nsv911457 19 22916585 23020097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586616 S 6533 0 1 "" IS37884 esv1000973 19 22930782 22935732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565360 S 3 0 1 "" HuRef nsv436251 19 22930973 22935770 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465669 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv512570 19 22932192 22935650 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625179 S 1 0 1 "" 1 esv1002770 19 22932698 22934767 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586743 S 3 1 0 "" HuRef esv23488 19 22932698 22934767 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16725,esv17181 M 451 24 0 "" NA06985,NA11894,NA12006,NA12749,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821506 19 22932698 22934980 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420046 S 1 0 1 "" NA10851 nsv519744 19 22945590 22959810 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658092,nssv693599,nssv697343 M 2026 1 2 "" nsv469842 19 22956074 23114254 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649863 M 265 1 1 Samples from several populations that are part of the HapMap project. "" nsv833788 19 22970885 23120505 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454628 S 95 1 0 "" nsv2445 19 22996557 23028969 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6777 S 9 0 1 "" NA12156 esv25214 19 23008548 23015296 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11185,esv18320 M 451 37 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821052 19 23008548 23015366 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420047 S 1 0 1 "" NA10851 nsv828510 19 23010327 23014118 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422241 S 31 0 1 "" NA18969 esv6564 19 23027986 23028617 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29005 S 1 0 0 "" SJK esv5233 19 23075867 23234160 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27674 S 1 0 0 Single Asian sample YH "" YH dgv3816n71 19 23089343 23151535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911459,nsv911458 M 6533 0 2 "" SP55878,SP57469 nsv458527 19 23101782 23184318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535443 S 1557 0 1 "" 1780862042_A esv2511687 19 23112158 23113662 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276471 S 1 0 1 "" NA18507 esv1932531 19 23112443 23113160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521297 S 1 0 1 "" NA18507 esv2934 19 23112594 23113066 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25375 S 1 0 1 Single Asian sample YH "" YH esv2436547 19 23112631 23112947 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360413 S 1 0 1 "" NA18507 esv8775 19 23112641 23112970 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31216 S 1 0 1 "" SJK esv1572676 19 23112643 23112960 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968978 S 2 0 1 "" HuRef dgv3817n71 19 23119554 23199969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911460,nsv911461 M 6533 0 13 "" IS31837,IS32918,IS33504,IS33601,IS34235,IS35100,IS35287,IS35484,IS38176,IS39258,IS40368,MS10311,MS17208 dgv3818n71 19 23119554 23222276 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911463,nsv911462 M 6533 0 8 "" IS31137,IS31706,IS31768,IS33605,IS33776,IS33797,IS36533,IS41043 nsv833789 19 23121303 23279637 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454630,nssv1454629 M 95 1 1 "" nsv911464 19 23165040 23222276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569112 S 6533 0 1 "" IS31419 esv260050 19 23166636 23171389 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400623,essv2397452,essv2398394 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18520,NA19093 esv26081 19 23166809 23170812 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14457 S 451 2 0 "" NA19108,NA19129 nsv833790 19 23197812 23349360 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454631 S 95 1 0 ZNF91 esv992876 19 23256929 23258421 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587089 S 3 0 1 "" HuRef esv26348 19 23256971 23258653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12881 S 451 0 10 "" NA07045,NA12287,NA12414,NA12489,NA12828,NA18517,NA18523,NA18909,NA19129,NA19147 nsv138139 19 23257033 23258677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156717 M 24 "" nsv509730 19 23262710 23304305 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621064 S 4 1 0 "" NA15510 nsv2446 19 23272990 23290286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6778 S 9 1 0 "" NA12156 esv2517583 19 23297433 23300164 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188277 S 1 0 1 "" NA18507 nsv509731 19 23418390 23449133 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621065 S 4 1 0 "" NA15510 esv2367708 19 23440940 23441365 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973246 S 1 0 1 "" NA18507 nsv513520 19 23441547 23441974 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625932 S 1 1 0 "" 1 esv1539929 19 23447030 23447087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335231 S 2 0 1 "" HuRef nsv9687 19 23449607 23454200 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26125 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 essv10192 19 23474937 23534946 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18516 dgv3819n71 19 23488097 23722719 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911470,nsv911465 M 6533 0 2 ZNF675,ZNF681 SP52202,SP56733 nsv509732 19 23494684 23562253 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621066 S 4 1 0 "" NA15510 nsv523603 19 23495542 23595881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699396 S 2026 0 1 "" nsv911466 19 23505306 23775137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561992 S 6533 1 0 RPSAP58,ZNF675,ZNF681 MS25306 dgv3820n71 19 23506281 23613629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911469,nsv911467,nsv911468 M 6533 0 3 "" SP50559,SP54424,SP57472 nsv524183 19 23534198 24282139 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700065 S 2026 1 0 LOC100101266,RPSAP58,ZNF254,ZNF675,ZNF681,ZNF726 nsv458528 19 23567873 23730242 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535444 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF675,ZNF681 HGDP00017 nsv9688 19 23596144 23600870 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24198,nssv21850,nssv27752,nssv21575,nssv25342,nssv28491,nssv25035,nssv25369 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA10863,NA11830,NA12740,NA12802,NA18860,NA19221 esv1009823 19 23596580 23603626 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564449 S 3 0 1 "" HuRef esv999165 19 23597595 23599854 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586777 S 3 0 1 "" HuRef nsv828511 19 23597595 23599854 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427164,nssv1427946 M 31 0 2 "" AK6,AK8 esv24495 19 23597810 23599889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13868 S 451 0 3 "" NA12239,NA12414,NA18907 nsv9689 19 23602241 23604846 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24248 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07048 nsv2447 19 23604052 23637612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1442 S 9 1 0 ZNF675 NA19240 nsv9690 19 23616105 23626043 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25790 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 esv23608 19 23648550 23657875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10132 S 451 0 1 ZNF675 NA18523 esv1432237 19 23662402 23662402 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028943 S 2 1 0 "" HuRef nsv138443 19 23662411 23662411 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157021 M 24 "" nsv911471 19 23672089 23722719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508639 S 6533 0 1 ZNF681 SP54579 nsv9692 19 23682751 23684114 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27478 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv9693 19 23685163 23687896 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23952,nssv25060 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839 dgv3821n71 19 23688044 24393520 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911475,nsv911472,nsv911473 M 6533 3 0 LOC100101266,RPSAP58,ZNF254,ZNF681,ZNF726 IS40473,SP53700,SP54399 nsv9694 19 23700861 23703081 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27368 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv1455183 19 23708905 23708905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029667 S 2 1 0 "" HuRef esv1418599 19 23727905 23727905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261808 S 2 1 0 ZNF681 HuRef nsv911474 19 23735083 23874513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553953 S 6533 0 1 RPSAP58 MS20440 esv4296 19 23747312 23748540 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26737 S 1 0 0 Single Asian sample YH RPSAP58 YH esv2619335 19 23777183 23778693 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235185 S 1 0 1 RPSAP58 NA18507 esv2268001 19 23778056 23778767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674686 S 1 0 1 RPSAP58 NA18507 esv9336 19 23778144 23778557 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31777 S 1 0 1 RPSAP58 SJK nsv138127 19 23778235 23778556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156705 M 24 RPSAP58 nsv138104 19 23790633 23799222 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156682 M 24 RPSAP58 nsv2448 19 23799303 23822924 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1443 S 9 1 0 RPSAP58 NA19240 esv1010779 19 23802979 23804808 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565650 S 3 1 0 "" HuRef esv273705 19 23803097 23804526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579117,essv2579782 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267671 19 23803106 23804515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565852,essv2576056,essv2540905,essv2546392,essv2521324,essv2525983,essv2542591,essv2536398,essv2522763,essv2556743,essv2577482,essv2570734,essv2548343,essv2521631,essv2576846,essv2550753,essv2535001,essv2554184,essv2520562,essv2547367,essv2558305,essv2577878,essv2553890,essv2564143,essv2554908,essv2537558,essv2528370,essv2546840,essv2540035,essv2557542,essv2556999,essv2551770,essv2532234,essv2569232,essv2578779,essv2550002,essv2536914,essv2538959,essv2561317,essv2544662,essv2563015,essv2523794,essv2552968,essv2541382,essv2538271,essv2542658,essv2540367,essv2564825,essv2534863,essv2561017,essv2539638,essv2549357,essv2559947,essv2521894,essv2565902,essv2532738,essv2528985,essv2541514,essv2569889,essv2535685,essv2572233,essv2559081,essv2566952,essv2541907,essv2551085,essv2543575,essv2556217,essv2528120,essv2562396,essv2534038,essv2578239,essv2533646,essv2555562,essv2567238,essv2566494,essv2530186,essv2574060,essv2522648,essv2531571,essv2573436,essv2572118,essv2529646,essv2575391,essv2575163,essv2538477,essv2526413,essv2524127,essv2574792,essv2568505,essv2545217,essv2560490,essv2548150,essv2549817,essv2571129,essv2545930,essv2574230,essv2551541,essv2536299,essv2537813,essv2548942,essv2533347,essv2554402,essv2524907 M 157 103 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11994,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12716,NA12717,NA12750,NA12761,NA12763,NA12828,NA12872,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18504,NA18505,NA18508,NA18510,NA18511,NA18517,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18579,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18960,NA18961,NA18964,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv1450721 19 23803140 23803140 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132514 S 2 1 0 "" HuRef nsv509733 19 23809556 23826570 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623754,nssv621067,nssv619747 M 4 3 0 "" NA10860,NA15510,NA18994 esv992798 19 23821415 23823765 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565057 S 3 1 0 "" HuRef nsv513521 19 23824832 23825224 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625933 S 1 1 0 "" 1 esv2604413 19 23824939 23825158 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353602 S 1 1 0 "" NA18507 esv1353458 19 23825024 23825024 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906029 S 2 1 0 "" HuRef esv2633716 19 23846169 23942674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335415 S 1 0 1 ZNF726 NA18507 esv8359 19 23847443 23942479 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30800 S 1 0 1 ZNF726 SJK nsv470136 19 23848643 23925321 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546500 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF726 HGDP01364 nsv458530 19 23848643 23944575 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535446 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF726 HGDP01364 nsv528059 19 23852820 23861006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704593 S 2026 0 1 "" nsv911476 19 23890820 23994269 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533930 S 6533 1 0 ZNF726 MS11333 nsv513522 19 23947909 23947959 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625934 S 1 1 0 "" 1 esv1130528 19 23947933 23947933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888969 S 2 1 0 "" HuRef nsv833791 19 23952703 24085177 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454632 S 95 0 1 ZNF254 esv1003586 19 23974194 23977381 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587137 S 3 1 0 "" HuRef dgv3822n71 19 24008904 24337206 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911478,nsv911477 M 6533 2 0 LOC100101266,ZNF254 IS38219,MS17375 esv993002 19 24056921 24057336 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565261 S 3 1 0 "" HuRef nsv833793 19 24061049 24216635 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454633,nssv1454634,nssv1454636,nssv1454637,nssv1454635,nssv1454638,nssv1454639,nssv1454641,nssv1454642,nssv1454640,nssv1454644,nssv1454643,nssv1454647,nssv1454646,nssv1454645,nssv1454649,nssv1454651,nssv1454648,nssv1454650 M 95 1 18 LOC100101266,ZNF254 dgv3823n71 19 24076295 24273912 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911482,nsv911479,nsv911481 M 6533 5 0 LOC100101266,ZNF254 SP51021,SP51086,SP52114,SP54311,SP56734 nsv911480 19 24082118 24136819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507769 S 6533 1 0 ZNF254 SP54661 nsv9695 19 24130564 24130791 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26144 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 esv34504 19 24131560 24295825 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979792,essv6979793,essv6986946 M 771 1 0 LOC100101266 NA18632 dgv1069e1 19 24131560 24349203 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv681,essv7645,essv5457 M 271 0 0 LOC100101266 NA18632 dgv405n27 19 24146152 24282139 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458531,nsv458532 M 1557 0 2 "" 1780862355_A,NINDS_94 nsv9696 19 24146390 24146504 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24687,nssv24977 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA19007 nsv9697 19 24146639 24147089 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27377,nssv27486 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132 nsv9698 19 24147801 24149295 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26915,nssv26825,nssv26490,nssv24996,nssv27386,nssv25367,nssv27494,nssv27482 M 31 2 6 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155,NA18502,NA18504,NA18564,NA18972,NA19132,NA19240 nsv9699 19 24150419 24152142 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27425 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv9700 19 24152364 24156224 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27532,nssv27464,nssv28492,nssv24738,nssv26504,nssv27490 M 31 3 3 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18517,NA18552,NA18972,NA19221 nsv510760 19 24158001 24228840 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618960,nssv622747 M 4 0 2 "" NA10860,NA18994 nsv9701 19 24169019 24169140 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24767 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv517869 19 24170037 24282139 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695274 S 2026 0 1 "" nsv911483 19 24170240 24337206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533931,nssv1595684 M 6533 2 0 "" IS40297,MS11333 nsv911485 19 24171423 24282784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508248 S 6533 1 0 "" SP54661 nsv911486 19 24199234 24322879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502136 S 6533 0 1 "" SP51040 nsv469593 19 24216683 24414563 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649708 M 265 2 0 Samples from several populations that are part of the HapMap project. "" nsv510761 19 24235421 24316643 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622748,nssv618961 M 4 0 2 "" NA10860,NA18994 nsv526151 19 24248960 24282139 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702410 S 2026 1 0 "" esv28785 19 24250953 24255966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17062 S 451 0 1 "" NA12287 esv2421509 19 24252658 24256797 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070582,essv5019696,essv5095178,essv5086930,essv5050855,essv5021867,essv5086927,essv5136037,essv5113636,essv5021706,essv5069165,essv5024030,essv5010604,essv5070323,essv5112257,essv5160057,essv5137533,essv5014036,essv5031719,essv5091325,essv5156745,essv5035788,essv5042875,essv5085022,essv5091385,essv5109150,essv5052009,essv5013345,essv5157225,essv5016007,essv5075344,essv5108667,essv5080579,essv5087745,essv5089061,essv5127949,essv5058935,essv5157755,essv5114813,essv5079785,essv5132252,essv5015082,essv5051058,essv5140195,essv5075395,essv5024705,essv5160253,essv5089109,essv5055595,essv5057645,essv5147743,essv5060261,essv5088192,essv5027577,essv5014493,essv5008028,essv5013834,essv5054432,essv5118067,essv5156784,essv5153314,essv5144532,essv5006185,essv5039731,essv5140985,essv5074781,essv5092355,essv5034003,essv5022015,essv5111223,essv5046976,essv5110925,essv5131638,essv5034577,essv5099848,essv5144943,essv5039885,essv5042863,essv5144307,essv5160440,essv5008182,essv5144269,essv5146381,essv5044970,essv5104912,essv5080529,essv5133505,essv5148281 M 1184 0 88 "" NA06995,NA07022,NA07435,NA10840,NA11830,NA11891,NA11919,NA12003,NA12156,NA12287,NA12763,NA12777,NA18497,NA18498,NA18944,NA18962,NA19063,NA19078,NA19081,NA19130,NA19239,NA19310,NA19311,NA19372,NA19373,NA19374,NA19445,NA19676,NA19701,NA19702,NA19718,NA19789,NA19790,NA19916,NA20519,NA20520,NA20527,NA20531,NA20534,NA20588,NA20752,NA20760,NA20775,NA20785,NA20804,NA20809,NA20816,NA20819,NA20858,NA20871,NA20873,NA20876,NA20881,NA20892,NA20895,NA20896,NA20898,NA20902,NA20908,NA21090,NA21091,NA21094,NA21098,NA21102,NA21103,NA21115,NA21119,NA21123,NA21295,NA21308,NA21352,NA21384,NA21387,NA21408,NA21414,NA21415,NA21424,NA21425,NA21448,NA21453,NA21454,NA21455,NA21493,NA21510,NA21524,NA21529,NA21600,NA21784 nsv442458 19 24252658 24256797 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv821689 19 24271666 24280183 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421327 S 31 0 1 "" nsv911490 19 24273912 24402634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514332 S 6533 1 0 "" SP55992 esv28564 19 24343380 24423484 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13966,esv14008 M 451 24 1 "" NA06985,NA07037,NA07045,NA11894,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19225 esv2474024 19 24364847 24366760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237511 S 1 0 1 "" NA18507 nsv512571 19 24365351 24366197 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625180 S 1 0 1 "" 1 esv7249 19 24365397 24366097 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29690 S 1 0 1 "" SJK nsv512572 19 24385430 24388610 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625181 S 1 0 1 "" 1 esv2544561 19 24386053 24388256 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162174 S 1 0 1 "" NA18507 esv8379 19 24386872 24387884 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30820 S 1 0 1 "" SJK esv28965 19 32423675 32433039 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10692 S 451 0 2 "" NA11995,NA19147 nsv833794 19 32423910 32626502 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454652 S 95 0 1 "" esv5247 19 32423925 32431671 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27688 S 1 0 0 Single Asian sample YH "" YH dgv55n16 19 32423989 32424265 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436790,nsv435937 M 2 2 0 "" NA15510,NA18505 dgv74e19 19 32423999 32432163 CNV Loss Ahn et al 2009 19470904 Sequencing esv5755,esv9522,esv7847,esv9320,esv6253,esv7935,esv7633,esv6189,esv6081,esv6380 M 1 0 1 "" SJK esv6019 19 32424023 32425038 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28460 S 1 0 1 "" SJK esv5456 19 32424130 32424424 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27897 S 1 0 1 "" SJK esv7396 19 32424156 32426264 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29837 S 1 0 1 "" SJK nsv436852 19 32424605 32425193 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465672 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436066 19 32424702 32426322 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465673 S 2 1 0 "" NA15510 nsv428363 19 32425016 32597579 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453703 S 62 1 0 "" NA19181 dgv75e19 19 32425206 32430258 CNV Loss Ahn et al 2009 19470904 Sequencing esv9039,esv8175,esv6250,esv9260 M 1 0 1 "" SJK dgv18e197 19 32425825 32425999 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2473334,esv2606882 M 1 0 1 "" NA18507 esv274542 19 32426100 32426185 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581037 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set dgv76e19 19 32426129 32428392 CNV Loss Ahn et al 2009 19470904 Sequencing esv9563,esv5650 M 1 0 1 "" SJK esv7377 19 32426509 32430272 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29818 S 1 0 1 "" SJK esv7475 19 32427221 32428558 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29916 S 1 0 1 "" SJK dgv77e19 19 32427805 32430311 CNV Loss Ahn et al 2009 19470904 Sequencing esv8780,esv8889 M 1 0 1 "" SJK esv8053 19 32427844 32428482 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30494 S 1 0 1 "" SJK esv2564498 19 32427968 32428307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346176 S 1 0 1 "" NA18507 esv2491010 19 32428290 32428629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182863 S 1 0 1 "" NA18507 esv7903 19 32428789 32429312 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30344 S 1 0 1 "" SJK esv6160 19 32428795 32431601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28601 S 1 0 1 "" SJK esv2640562 19 32428989 32429327 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331958 S 1 0 1 "" NA18507 esv8727 19 32429615 32430313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31168 S 1 0 1 "" SJK esv7589 19 32430350 32431606 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30030 S 1 0 1 "" SJK esv2514305 19 32430742 32430912 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366775 S 1 0 1 "" NA18507 esv6723 19 32452409 32462634 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29164 S 1 0 1 "" SJK nsv911502 19 32455280 32551407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516692 S 6533 1 0 "" SP56890 dgv3824n71 19 32455280 32640702 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911503,nsv911515 M 6533 2 0 "" IS35447,SP55662 nsv911504 19 32455280 32670285 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587416,nssv1593894 M 6533 1 1 "" IS38047,IS39625 dgv3825n71 19 32455280 32757923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911506,nsv911505,nsv911517 M 6533 0 5 "" IS31257,IS35088,IS38388,IS38419,MS24372 dgv3826n71 19 32455280 32836340 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911520,nsv911522,nsv911518,nsv911508,nsv911507,nsv911521 M 6533 9 0 "" IS32322,IS34005,IS34407,IS38176,IS40297,IS40396,IS41410,IS41511,IS41634 dgv3827n71 19 32455280 33022748 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911509,nsv911510 M 6533 2 0 LOC148189 IS31748,SP50830 dgv3828n71 19 32455280 33187893 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911511,nsv911543,nsv911514,nsv911535,nsv911525,nsv911536,nsv911524,nsv911512,nsv911513,nsv911523,nsv911526 M 6533 12 0 LOC148189 IS30041,IS30224,IS31045,IS38220,IS38291,IS39399,IS39450,IS39860,IS40444,IS41831,IS41944,MS21308 dgv3829n71 19 32470668 32697522 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911516,nsv911528,nsv911519 M 6533 4 0 "" IS33248,IS33455,IS34304,IS38293 esv2587662 19 32492157 32498203 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315989 S 1 0 1 "" NA18507 esv23424 19 32493445 32498268 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20937 S 451 1 0 "" NA19108 nsv911527 19 32493654 32608499 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512063 S 6533 1 0 "" SP55265 nsv435696 19 32506251 32556483 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465674 S 2 0 1 "" NA15510 esv2444976 19 32512868 32515186 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186235 S 1 0 1 "" NA18507 nsv435705 19 32522143 32528552 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465675 S 2 0 1 "" NA15510 nsv512573 19 32522889 32530217 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625182 S 1 0 1 "" 1 nsv436252 19 32523259 32527419 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465677 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2548510 19 32523270 32529675 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393778 S 1 0 1 "" NA18507 dgv3830n71 19 32526903 32892128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911530,nsv911541,nsv911529,nsv911538,nsv911534 M 6533 6 0 "" IS33601,IS33797,MS11306,MS11579,MS11726,SP52051 esv271534 19 32528380 32528465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517700,essv2519433,essv2513617 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12878 esv274135 19 32528380 32528465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581529 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv833795 19 32535227 32599962 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454654,nssv1454653,nssv1454659,nssv1454656,nssv1454655,nssv1454657,nssv1454658,nssv1454660,nssv1454661 M 95 2 7 "" esv8666 19 32546224 32580687 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31107 S 1 0 1 "" SJK nsv911531 19 32551407 32670285 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512158 S 6533 1 0 "" SP55312 dgv3831n71 19 32553835 32728584 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911540,nsv911532 M 6533 2 0 "" MS19736,SP55295 nsv911533 19 32553835 32757923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566371 S 6533 0 1 "" IS30669 esv8697 19 32559910 32560276 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31138 S 1 0 1 "" SJK esv2587710 19 32560905 32561106 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242155 S 1 1 0 "" NA18507 esv6213 19 32572030 32572522 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28654 S 1 0 1 "" SJK esv2471355 19 32573151 32574946 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351647 S 1 0 1 "" NA18507 esv8894 19 32573492 32574318 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31335 S 1 0 1 "" SJK dgv3832n71 19 32576636 32702956 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911539,nsv911537 M 6533 0 2 "" IS34742,SP55557 nsv911542 19 32585501 32961206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523915 S 6533 1 0 "" SP54275 esv1145312 19 32603564 32603906 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027033 S 2 0 1 "" HuRef nsv911544 19 32608499 32670285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505592 S 6533 0 1 "" SP53687 nsv817827 19 32615675 32664393 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417442 S 112 0 1 "" NA18953 nsv911545 19 32615675 32670285 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504196 S 6533 1 0 "" SP52274 nsv516449 19 32615675 32810457 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668476,nssv696137,nssv695275,nssv675560,nssv673750,nssv681738 M 2026 3 3 "" esv8344 19 32621106 32658965 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30785 S 1 0 0 "" SJK esv6541 19 32626997 32627700 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28982 S 1 0 1 "" SJK dgv3833n71 19 32640702 32836340 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911546,nsv911547 M 6533 2 0 "" IS32015,IS33504 nsv911548 19 32640702 33536970 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561304 S 6533 1 0 LOC148189 MS24919 nsv911549 19 32642512 32757923 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514333 S 6533 1 0 "" SP55992 nsv512574 19 32653033 32655131 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625183 S 1 0 1 "" 1 esv1388444 19 32653208 32655091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764965 S 2 0 1 "" HuRef esv9093 19 32653222 32655121 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31534 S 1 0 1 "" SJK esv23782 19 32653388 32654893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11004 S 451 0 3 "" NA11995,NA12239,NA12749 dgv1070e1 19 32658593 32953337 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24741,esv190,essv14146,essv14089,essv22299 M 271 0 0 "" NA06985,NA11829,NA18861,NA19140 dgv3834n71 19 32679064 32930410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911550,nsv911552 M 6533 0 2 "" IS31082,IS38492 esv2446605 19 32687493 32691201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207266 S 1 0 1 "" NA18507 nsv911551 19 32690406 32810457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599906 S 6533 0 1 "" IS41807 nsv911553 19 32770985 32938582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564886 S 6533 0 1 "" IS30311 dgv3835n71 19 32817478 32930410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911554,nsv911555 M 6533 0 12 "" IS30635,IS33040,IS34111,IS34987,IS36067,IS37480,IS38054,IS38142,IS38183,IS39786,IS41166,MS10241 esv2011184 19 32817659 32818361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832655 S 1 0 1 "" NA18507 nsv510762 19 32836786 32891822 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620118 S 4 0 1 "" NA15510 esv2064972 19 32846106 32846577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506878 S 1 0 1 "" NA18507 esv28333 19 32906838 32911395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18247 S 451 3 0 "" NA12156,NA12489,NA12749 nsv911556 19 32935836 33580180 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570464 S 6533 1 0 LOC148189 IS32015 nsv436254 19 32942106 32946759 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465678 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv24870 19 32942495 32945530 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19070 S 451 0 1 "" NA18505 nsv911557 19 32950620 33187893 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599265 S 6533 1 0 LOC148189 IS41511 esv33362 19 32986351 32987972 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94474 S 51 0 1 "" 21808 esv33096 19 32989665 33010656 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94419 S 51 0 1 "" 21808 esv991579 19 33001364 33003414 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565575 S 3 1 0 "" HuRef nsv512575 19 33014224 33021383 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625184 S 1 0 1 "" 1 esv6785 19 33014994 33021008 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29226 S 1 0 1 "" SJK esv29536 19 33024841 33028761 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17931 S 451 0 2 "" NA12239,NA12489 esv24170 19 33052723 33058968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13945 S 451 0 2 "" NA18523,NA18909 nsv520798 19 33077108 33171613 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675561,nssv681739 M 2026 2 0 "" esv23660 19 33097107 33102850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14778 S 451 0 2 "" NA18517,NA19099 nsv458533 19 33141651 33158120 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535449 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01090 nsv525352 19 33164183 33220146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701471 S 2026 0 1 "" dgv3836n71 19 33176516 33261241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911558,nsv911560,nsv911559 M 6533 0 25 "" MS10283,MS10381,MS11194,MS11252,MS11858,MS12648,MS12972,MS13205,MS14209,MS15487,MS16959,MS17819,MS18143,MS19143,MS21090,MS21563,MS21795,MS22453,MS22524,MS23758,MS23775,MS24508,MS25038,SP54381,SP56614 nsv911561 19 33359223 33410500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514088 S 6533 0 1 "" SP55926 esv2751785 19 33367179 33461459 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989396,essv6983873,essv6989871 M 771 0 1 "" BEC_727 nsv911562 19 33428164 33499519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582755 S 6533 0 1 "" IS36131 nsv519213 19 33445190 33474702 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696702 S 2026 1 0 "" dgv583n67 19 33448556 33459553 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828512,nsv828513 M 31 2 0 "" AK4,NA18968 nsv820497 19 33448556 33459553 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420049 S 1 0 1 "" NA10851 nsv527703 19 33461302 33466407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704181 S 2026 0 1 "" esv989425 19 33464030 33467233 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587055 S 3 0 1 "" HuRef esv24389 19 33464478 33468451 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12360 S 451 2 1 "" NA06985,NA12044,NA19108 nsv520556 19 33464816 33466407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689706,nssv672676,nssv678810,nssv672493 M 2026 0 4 "" nsv528339 19 33464816 33474702 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704921 S 2026 0 1 "" nsv2449 19 33631953 33677565 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6779 S 9 0 1 "" NA12156 nsv911563 19 33694131 33782542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529330 S 6533 0 1 "" SP81504 nsv833796 19 33742778 33936080 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454662 S 95 1 0 "" esv2548006 19 33882118 33883518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379936 S 1 0 1 "" NA18507 dgv3837n71 19 33882358 34517198 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911564,nsv911565 M 6533 2 0 LOC100505835,LOC148145,LOC284395,UQCRFS1 SP52633,SP57671 nsv828514 19 33930375 33931282 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431011 S 31 1 0 "" AK16 nsv833797 19 33935188 34130591 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454663,nssv1454664 M 95 0 2 "" esv2546773 19 33986124 33991723 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295141 S 1 0 1 "" NA18507 nsv2450 19 33988079 34033088 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5736 S 9 0 1 "" NA19129 esv22354 19 34001060 34017397 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18987,esv13372 M 451 2 0 "" NA12828,NA18523 esv990626 19 34012929 34017397 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586332 S 3 1 0 "" HuRef esv990246 19 34016247 34016691 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586905 S 3 1 0 "" HuRef nsv911566 19 34026267 34055927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553094 S 6533 0 1 "" MS19721 esv23597 19 34028758 34031777 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19033 S 451 0 2 "" NA18907,NA19129 esv2422134 19 34029192 34031422 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028634,essv5074851,essv5104600,essv5158619,essv5147249,essv5076410,essv5139873,essv5074226,essv5065564,essv5020269,essv5113200,essv5054567,essv5023625,essv5010264,essv5156346,essv5136587,essv5014025,essv5145378,essv5112895,essv5135294 M 1184 0 20 "" NA18497,NA18498,NA18859,NA18860,NA18912,NA18917,NA19128,NA19129,NA19137,NA19139,NA19223,NA19372,NA19373,NA19374,NA19430,NA19463,NA19712,NA19914,NA20129,NA21451 nsv442459 19 34029192 34031422 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1071e1 19 34038496 34356975 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23675,esv90 M 271 0 0 LOC100505835,LOC148145 NA10863 esv1731905 19 34071059 34071059 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809895 S 2 1 0 "" HuRef nsv517098 19 34084586 34092732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664981,nssv654209,nssv681528,nssv652429,nssv656972,nssv677869,nssv666420,nssv653779,nssv660687,nssv660590,nssv665995,nssv674025,nssv669451,nssv674561,nssv679047,nssv690736,nssv666556,nssv678646,nssv692543,nssv678191,nssv681392,nssv664217,nssv652136 M 2026 0 23 "" nsv520161 19 34084586 34103313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697256 S 2026 0 1 "" nsv526642 19 34088467 34093608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702967 S 2026 0 1 "" esv27610 19 34148510 34149929 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18006 S 451 0 1 LOC148145 NA12156 esv2519556 19 34192901 34193210 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366652 S 1 1 0 LOC100505835 NA18507 esv1159408 19 34192953 34192953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042003 S 2 1 0 LOC100505835 HuRef esv26883 19 34196377 34197052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19619 S 451 0 1 LOC100505835 NA12287 nsv2451 19 34269655 34296944 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7433 S 9 0 1 "" NA12156 nsv9704 19 34310203 34323396 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24764 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 nsv2452 19 34381502 34416771 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1444 S 9 1 0 UQCRFS1 NA19240 esv2567774 19 34405810 34405885 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185671 S 1 0 1 "" NA18507 nsv828515 19 34441531 34458785 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439383 S 31 0 1 "" NA18973 dgv1072e1 19 34447521 34456548 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1320,esv1210 M 271 0 0 "" NA18973 nsv2453 19 34449595 34493404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1445,nssv2993 M 9 2 0 LOC284395 NA18555,NA19240 nsv513523 19 34547556 34548404 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625937 S 1 1 0 LOC284395 1 nsv833798 19 34561922 34734125 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454665 S 95 0 1 LOC284395,VSTM2B nsv522565 19 34578374 34586645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705948 S 2026 0 1 LOC284395 nsv911567 19 34578374 34604254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547018 S 6533 0 1 LOC284395 MS17208 nsv518118 19 34610357 34612613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695535 S 2026 0 1 LOC284395 nsv2455 19 34620762 34657151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9551,nssv2214,nssv4349,nssv5737,nssv6780,nssv1446 M 9 0 6 LOC284395 NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 esv1010496 19 34640037 34648007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564307 S 3 0 1 LOC284395 HuRef esv2449741 19 34641171 34648481 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291583 S 1 0 1 LOC284395 NA18507 esv2281219 19 34641847 34648210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826789 S 1 0 1 LOC284395 NA18507 dgv56n16 19 34641860 34649280 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436249,nsv435703 M 2 0 2 LOC284395 NA15510,NA18505 nsv512576 19 34641921 34648228 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625185 S 1 0 1 LOC284395 1 esv9272 19 34642038 34648014 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31713 S 1 0 1 LOC284395 SJK esv2560996 19 34693441 34698382 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224288 S 1 0 1 LOC284395 NA18507 esv23059 19 34694025 34698191 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18548,esv15660 M 451 15 0 LOC284395 NA06985,NA11995,NA12044,NA12156,NA15510,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19147,NA19225 esv2387608 19 34694560 34695048 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933722 S 1 0 1 LOC284395 NA18507 esv5350 19 34694600 34694920 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27791 S 1 0 1 Single Asian sample YH LOC284395 YH esv2019824 19 34695009 34695417 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893517 S 1 0 1 LOC284395 NA18507 esv5060 19 34695191 34695640 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27501 S 1 0 1 Single Asian sample YH LOC284395 YH esv1341466 19 34696342 34696391 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969415 S 2 0 1 LOC284395 HuRef esv21555 19 34724433 34725508 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17421 S 451 1 0 VSTM2B NA12044 esv275023 19 34730994 34740982 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585866,essv2586166 M 1250 1 1 VSTM2B nsv833799 19 34733312 34866442 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454666 S 95 1 0 PLEKHF1,POP4,VSTM2B esv22343 19 34748640 34750574 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13391,esv20941 M 451 1 2 "" NA12044,NA18505,NA18511 esv994628 19 34750386 34750386 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579751 S 3 1 0 "" HuRef esv992368 19 34760029 34763190 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586365 S 3 1 0 "" HuRef nsv828516 19 34762791 34763283 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437131 S 31 0 1 "" NA18542 esv32922 19 34762868 34763098 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97599,essv97865 M 51 2 0 "" 21616,21837 esv259429 19 34805254 34805517 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394192,essv2393765,essv2394029,essv2394290 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv259767 19 34805258 34805516 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396743,essv2394789,essv2399039,essv2400325,essv2395780,essv2400574,essv2398061,essv2396655,essv2398651,essv2399718,essv2397352,essv2395663,essv2397832,essv2396100,essv2394926,essv2398963,essv2400070,essv2394613,essv2397898,essv2396187,essv2395458,essv2398174,essv2397109,essv2400798,essv2398365,essv2394832,essv2399775,essv2399537,essv2396376,essv2395960,essv2397021,essv2400484 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA10851,NA11881,NA12004,NA12043,NA12144,NA12414,NA12489,NA12828,NA12878,NA18501,NA18505,NA18523,NA18545,NA18603,NA18861,NA18870,NA18907,NA18944,NA18948,NA18949,NA18951,NA18952,NA19093,NA19114,NA19129,NA19137,NA19138,NA19238,NA19239,NA19240 esv5541 19 34822492 34824202 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27982 S 1 0 1 "" SJK esv29368 19 34877738 34881162 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11413 S 451 2 3 "" NA06985,NA11993,NA12006,NA12044,NA19147 esv7550 19 34879620 34880181 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29991 S 1 0 0 "" SJK nsv833800 19 34944487 35094215 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454667 S 95 0 1 CCNE1 nsv828517 19 34963890 35133338 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430752 S 31 1 0 C19orf2,CCNE1 NA18968 nsv2456 19 34987906 35032546 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7434 S 9 0 1 CCNE1 NA12156 nsv828518 19 34995565 35013744 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435555 S 31 0 1 CCNE1 NA18942 esv274862 19 34999291 35002398 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586016 S 1250 0 1 CCNE1 nsv512577 19 35008313 35012156 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625186 S 1 0 1 "" 1 esv7490 19 35008524 35009031 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29931 S 1 0 1 "" SJK nsv510763 19 35042546 35087946 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622749,nssv617436,nssv618962 M 4 0 3 "" CHM,NA10860,NA18994 nsv2457 19 35061465 35101616 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2215,nssv10183,nssv1447,nssv4350,nssv5738,nssv7435 M 9 0 6 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv2297836 19 35078169 35078767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963396 S 1 0 1 "" NA18507 esv5433 19 35078309 35078792 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27874 S 1 0 1 Single Asian sample YH "" YH esv1686577 19 35078373 35078596 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882451 S 2 0 1 "" HuRef esv8466 19 35078389 35078586 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30907 S 1 0 1 "" SJK esv992348 19 35079558 35085194 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564019 S 3 0 1 "" HuRef esv2502192 19 35080101 35085651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313613 S 1 0 1 "" NA18507 nsv512578 19 35080281 35085006 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625187 S 1 0 1 "" 1 esv1930771 19 35080442 35085126 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575856 S 1 0 1 "" NA18507 esv4007 19 35080616 35085001 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26448 S 1 0 1 Single Asian sample YH "" YH dgv57n16 19 35080616 35086683 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435698,nsv436248 M 2 0 2 "" NA15510,NA18505 esv7836 19 35080631 35084937 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30277 S 1 0 1 "" SJK nsv498896 19 35080643 35084955 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585757 S 9 0 1 "" esv1236434 19 35080644 35084954 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718833 S 2 0 1 "" HuRef nsv138449 19 35080645 35084954 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157027 M 24 "" esv2050236 19 35092565 35092955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949149 S 1 0 1 "" NA18507 esv1605665 19 35102937 35102989 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223585 S 2 0 1 "" HuRef esv270710 19 35140022 35140350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541052,essv2546371,essv2521364,essv2522699,essv2570992,essv2553883,essv2537605,essv2528268,essv2532376,essv2565946,essv2531126,essv2569992,essv2578206,essv2567181,essv2566378,essv2576937,essv2571960,essv2525580,essv2575203,essv2560299,essv2549805,essv2571387,essv2548930,essv2548006 M 157 24 0 Samples from several populations that are part of the HapMap project. C19orf2 NA07037,NA07347,NA11831,NA11881,NA11894,NA11931,NA11993,NA12763,NA12878,NA12891,NA18505,NA18572,NA18573,NA18593,NA18940,NA18947,NA18948,NA18970,NA18973,NA18980,NA19102,NA19190,NA19225,NA19238 esv272672 19 35140023 35140351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581702,essv2582363,essv2584121 M 7 3 0 Samples from several populations that are part of the HapMap project. C19orf2 NA12878,NA12891,NA19238 nsv519832 19 35157036 35238024 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658973,nssv684050 M 2026 2 0 C19orf2 nsv911568 19 35244873 35311922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547019 S 6533 0 1 "" MS17208 esv999868 19 35250404 35251488 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587046 S 3 0 1 "" HuRef nsv817829 19 35264596 35272437 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416107,nssv1416106 M 112 2 0 "" NA12801,NA12813 esv4818 19 35313377 35313608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27259 S 1 0 1 Single Asian sample YH "" YH esv2388295 19 35330695 35331134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730256 S 1 0 1 "" NA18507 esv998147 19 35348555 35357046 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565100 S 3 0 1 "" HuRef nsv2458 19 35378612 35422894 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2216 S 9 0 1 "" NA18555 nsv833801 19 35453338 35594061 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454668 S 95 0 1 ZNF536 esv1270496 19 35470111 35470530 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846029 S 2 0 1 "" HuRef nsv525912 19 35473391 35488438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702116 S 2026 0 1 "" esv1416276 19 35527052 35527052 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775248 S 2 1 0 "" HuRef esv270497 19 35541738 35542119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496465,essv2493910,essv2502083 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18871,NA19257 esv32918 19 35557808 35558067 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101347,essv97829,essv97997,essv96247,essv94150 M 51 1 4 ZNF536 21805,21837,22259,22371,22394 esv8807 19 35566293 35566772 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31248 S 1 0 1 ZNF536 SJK nsv458534 19 35635517 35665223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535450 S 1557 0 1 ZNF536 1780854128_A nsv138500 19 35675864 35676785 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157078 M 24 ZNF536 esv989390 19 35704998 35704998 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577880 S 3 1 0 ZNF536 HuRef esv1248605 19 35705008 35705008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153918 S 2 1 0 ZNF536 HuRef esv1004854 19 35742708 35743150 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586882 S 3 0 1 "" HuRef esv275127 19 35759494 35765098 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585443,essv2585453 M 1250 1 1 "" esv268240 19 35844565 35844650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517376,essv2513729 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11918 nsv2459 19 35847080 35879739 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4352 S 9 1 0 "" NA12878 nsv833802 19 35929886 36107804 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454669 S 95 1 0 "" nsv911569 19 35943417 36021405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514062 S 6533 0 1 "" SP55914 nsv2460 19 35955766 35988210 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7436 S 9 0 1 "" NA12156 esv2573411 19 35978449 35981928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381146 S 1 0 1 "" NA18507 esv28073 19 35978675 35981288 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21318,esv14196 M 451 10 11 "" NA06985,NA07037,NA11931,NA12006,NA12044,NA12156,NA12414,NA12489,NA12749,NA12776,NA18508,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225,NA19240 dgv584n67 19 35978675 35981413 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828521,nsv828519 M 31 0 23 "" AK10,AK18,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820635 19 35978675 35981664 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420050 S 1 0 1 "" NA10851 esv2650939 19 35978728 35981056 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235894 S 1 0 1 "" NA18507 dgv24n50 19 35978787 35981773 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512579,nsv511621 M 1 0 1 "" 1 esv2084585 19 35979132 35981777 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942253 S 1 0 1 "" NA18507 nsv498897 19 35979312 35981599 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585758 S 9 0 1 "" esv6953 19 35979314 35981609 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29394 S 1 0 1 "" SJK dgv76e180 19 35979347 35981413 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv987909,esv1003011 M 3 1 0 "" HuRef nsv514894 19 35979424 35981160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628333 S 1414 0 1 "" esv33227 19 35979790 35980636 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101166,essv97923,essv98527,essv96017,essv99718,essv94224 M 51 0 6 "" 21618,21837,22085,22127,22217,22394 esv25661 19 36008563 36010505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20854 S 451 0 3 "" NA19108,NA19225,NA19257 nsv911570 19 36073126 36290110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579193 S 6533 0 1 "" IS35028 esv3318 19 36187205 36187667 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25759 S 1 0 1 Single Asian sample YH "" YH nsv833804 19 36264971 36414542 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454670 S 95 1 0 DKFZp566F0947 nsv2461 19 36338187 36354904 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9552 S 9 1 0 "" NA18507 esv2630638 19 36381816 36383020 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382317 S 1 1 0 "" NA18507 esv268586 19 36382486 36382571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514106,essv2514835,essv2518148,essv2515929,essv2514414,essv2517811,essv2517358 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12234,NA12872,NA12873,NA12874,NA12878,NA18970 esv273710 19 36382486 36382571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581517 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1467238 19 36382524 36382524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012692 S 2 1 0 "" HuRef esv2068753 19 36425287 36425793 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671120 S 1 0 1 "" NA18507 esv5122 19 36425463 36425685 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27563 S 1 0 1 Single Asian sample YH "" YH nsv510764 19 36466822 36487387 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622750 S 4 0 1 TSHZ3 NA18994 esv25402 19 36475065 36475864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14893 S 451 0 1 TSHZ3 NA12749 nsv911571 19 36504012 36580239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547020 S 6533 0 1 TSHZ3 MS17208 nsv828522 19 36525232 36540210 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426272 S 31 1 0 TSHZ3 AK4 esv998287 19 36578324 36581619 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586542 S 3 0 1 "" HuRef esv21580 19 36580439 36583959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20162 S 451 2 0 "" NA12044,NA12749 nsv833805 19 36602072 36738737 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454671,nssv1454672 M 95 1 1 "" esv268458 19 36620955 36625966 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515492 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 esv1757561 19 36659216 36659492 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154141 S 2 0 1 "" HuRef esv2288287 19 36672162 36672571 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543352 S 1 0 1 "" NA18507 esv26739 19 36674870 36675355 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15487 S 451 1 0 "" NA12044 nsv137976 19 36769245 36769245 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156554 M 24 "" esv22250 19 36881050 36884750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14302 S 451 0 2 "" NA11995,NA12006 esv268320 19 37038258 37038428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513343,essv2497528 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19147 nsv833806 19 37247664 37419259 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454674,nssv1454673 M 95 2 0 "" esv1002846 19 37297669 37297669 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567045 S 3 1 0 "" HuRef esv1638096 19 37297670 37297670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657783 S 2 1 0 "" HuRef nsv525568 19 37327301 37337812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701707 S 2026 0 1 "" nsv507893 19 37459601 37465601 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619218,nssv617944,nssv620640 M 4 3 0 "" CHM,NA10860,NA15510 esv2482268 19 37481343 37482795 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283961 S 1 0 1 "" NA18507 nsv510471 19 37641942 37647942 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624203,nssv621461 M 4 0 2 DPY19L3 NA15510,NA18994 nsv137998 19 37670765 37672073 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156576 M 24 "" esv26192 19 37686078 37686737 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12277 S 451 1 0 "" NA18511 esv8796 19 37691233 37691292 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31237 S 1 1 0 "" SJK nsv828523 19 37702394 37704083 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440048 S 31 0 1 "" NA18537 esv2006658 19 37722012 37722395 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966857 S 1 0 1 "" NA18507 esv1729888 19 37722140 37722233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052823 S 2 0 1 "" HuRef nsv138453 19 37722188 37722279 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157031 M 24 "" nsv510472 19 37733681 37739681 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622285,nssv624204,nssv621462 M 4 0 3 "" NA10860,NA15510,NA18994 esv1751837 19 37738335 37738335 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663205 S 2 1 0 "" HuRef nsv519794 19 37768455 37777341 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658735,nssv693903,nssv678219 M 2026 3 0 PDCD5 nsv527490 19 37810606 37830208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703938 S 2026 0 1 ANKRD27 dgv3838n71 19 37852966 37891623 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911572,nsv911573,nsv911574 M 6533 0 3 ANKRD27,NUDT19,RGS9BP SP54956,SP54988,SP55021 nsv911575 19 37891623 38006753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541798 S 6533 0 1 NUDT19,TDRD12 MS15491 nsv458535 19 37899485 38006753 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535451 S 1557 0 1 TDRD12 1780854128_A nsv511617 19 37902087 37913166 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626248 S 1 0 1 TDRD12 1 esv24839 19 37902940 37903703 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10916 S 451 1 0 TDRD12 NA12044 esv1422310 19 37911632 37912202 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748447 S 2 0 1 TDRD12 HuRef esv29523 19 37928480 37930065 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20197 S 451 0 1 TDRD12 NA12489 esv2527998 19 37936439 37936737 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228575 S 1 0 1 TDRD12 NA18507 nsv911576 19 37942530 38096936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579194 S 6533 0 1 CEP89,SLC7A9,TDRD12 IS35028 nsv518446 19 37962731 38006753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695884 S 2026 0 1 TDRD12 nsv516922 19 38026818 38065962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703093,nssv695894,nssv657044,nssv654998 M 2026 0 4 CEP89,SLC7A9 nsv911577 19 38035562 38084330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530966 S 6533 0 1 CEP89,SLC7A9 MS10311 nsv911578 19 38056468 38106260 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562252 S 6533 1 0 CEP89 MS25451 esv24841 19 38062384 38063019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21317 S 451 0 1 CEP89 NA11995 esv26692 19 38067441 38068896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15206 S 451 0 1 CEP89 NA18858 nsv833807 19 38072584 38260436 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454675 S 95 0 1 C19orf40,CEP89,RHPN2 nsv510473 19 38079846 38085846 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618447,nssv621463 M 4 0 2 CEP89 CHM,NA15510 nsv820055 19 38159097 38159860 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419079 S 2 1 0 C19orf40 AK1 esv28223 19 38161407 38215172 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15248 S 451 11 0 RHPN2 NA07037,NA11995,NA12414,NA15510,NA18502,NA18858,NA18861,NA18909,NA19147,NA19190,NA19240 nsv9705 19 38161563 38244832 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26926 S 31 1 0 Samples from several populations that are part of the HapMap project. RHPN2 NA19240 nsv828524 19 38203634 38212917 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430763 S 31 1 0 RHPN2 NA18968 nsv2462 19 38208173 38252882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7437 S 9 0 1 RHPN2 NA12156 esv2077920 19 38264440 38265033 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601189 S 1 0 1 GPATCH1 NA18507 nsv833808 19 38313633 38533448 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454676 S 95 0 1 CEBPA,LOC80054,LRP3,SLC7A10,WDR88 nsv828525 19 38343876 38344551 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434800 S 31 0 1 WDR88 NA18570 nsv911579 19 38363464 38394085 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510328 S 6533 0 1 LRP3,SLC7A10 SP54956 dgv3839n71 19 38363464 38418215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911580,nsv911581 M 6533 0 2 LRP3,SLC7A10 IS37646,IS39363 dgv3840n71 19 38374831 38397295 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911582,nsv911583,nsv911586 M 6533 0 3 LRP3,SLC7A10 SP54725,SP54988,SP55019 dgv3841n71 19 38374831 38494382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911584,nsv911585,nsv911589 M 6533 0 3 CEBPA,LOC80054,LRP3,SLC7A10 IS33504,MS10123,MS10311 esv24627 19 38376827 38377864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16484 S 451 0 1 LRP3 NA18511 dgv3842n71 19 38382536 38442154 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911588,nsv911587 M 6533 0 2 LRP3,SLC7A10 IS37172,MS17208 esv1069310 19 38401421 38401421 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808532 S 2 1 0 SLC7A10 HuRef dgv3843n71 19 38406209 38460761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911591,nsv911592,nsv911590 M 6533 0 5 SLC7A10 IS32737,IS34235,IS39233,IS39258,MS11237 nsv911593 19 38415545 38494382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574647 S 6533 0 1 CEBPA,LOC80054 IS33601 nsv470137 19 38418214 38467166 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546501 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00313 nsv523161 19 38418215 38434210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698871 S 2026 0 1 "" nsv911594 19 38425768 38466431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538747,nssv1546424 M 6533 0 2 "" MS13770,MS17208 esv7652 19 38432539 38433074 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30093 S 1 0 1 "" SJK nsv819722 19 38432900 38433168 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418901 S 2 1 0 "" AK1 esv2278164 19 38440957 38441388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588382 S 1 0 1 "" NA18507 dgv3844n71 19 38444834 38497979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911595,nsv911596 M 6533 0 2 CEBPA,LOC80054 IS40799,MS16153 dgv1073e1 19 38468914 39273401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv579,essv14034,essv15369,essv11295,essv9767 M 271 0 0 CEBPA,CEBPG,CHST8,KCTD15,LOC80054,PEPD NA18862,NA18863 nsv2463 19 38477685 38496328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4353 S 9 0 1 CEBPA,LOC80054 NA12878 nsv911597 19 38543985 38598604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592450 S 6533 0 1 CEBPG,PEPD IS39233 nsv828526 19 38551168 38569944 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435557 S 31 0 1 CEBPG,PEPD NA18942 dgv3845n71 19 38559853 38610263 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911598,nsv911600,nsv911604,nsv911601,nsv911602,nsv911599 M 6533 0 11 CEBPG,PEPD IS32841,IS33601,IS35484,IS36876,IS37985,IS38176,IS38403,MS10769,MS18276,SP54956,SP54988 dgv3846n71 19 38568234 38752711 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911603,nsv911606 M 6533 0 2 PEPD MS10123,MS10311 nsv470138 19 38570676 38601691 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546502 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PEPD HGDP00462 dgv3847n71 19 38575088 38646428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911605,nsv911607 M 6533 0 2 PEPD IS37646,MS22705 nsv522571 19 38578194 38594649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705955 S 2026 0 1 PEPD dgv139e55 19 38589007 39215623 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34290,esv34628 M 771 2 0 CHST8,KCTD15,PEPD NA18862,NA18863 nsv525549 19 38610263 38620583 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701687 S 2026 1 0 PEPD nsv828527 19 38626013 38626934 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432562 S 31 1 0 PEPD AK20 nsv911608 19 38638733 38702129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547022 S 6533 0 1 PEPD MS17208 nsv513524 19 38641438 38641928 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625938 S 1 1 0 PEPD 1 esv2469451 19 38641479 38641805 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251764 S 1 1 0 PEPD NA18507 nsv819550 19 38641535 38641576 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418902 S 2 1 0 PEPD AK1 nsv509734 19 38710382 38770324 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621069 S 4 1 0 "" NA15510 nsv522979 19 38761006 38762038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698649 S 2026 0 1 "" esv23382 19 38804323 38805160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11860 S 451 0 1 CHST8 NA12489 nsv509736 19 38835960 38977873 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621071,nssv621070 M 4 1 0 CHST8 NA15510 nsv833809 19 38874742 39036502 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454677 S 95 0 1 CHST8,KCTD15 essv22276 19 38899057 38945239 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CHST8 NA12762 nsv507894 19 38932804 38938804 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619219 S 4 1 0 CHST8 NA10860 esv1416262 19 38940134 38940209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968585 S 2 0 1 CHST8 HuRef esv1700346 19 38943014 38943014 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926702 S 2 1 0 CHST8 HuRef esv33416 19 38951636 38959616 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97086 S 51 0 1 CHST8 22075 nsv911609 19 38969526 39007736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510330 S 6533 0 1 KCTD15 SP54956 nsv828528 19 38969594 38980770 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422263 S 31 1 0 KCTD15 NA18969 nsv2464 19 38987055 39019246 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2218 S 9 1 0 KCTD15 NA18555 esv2617745 19 39007626 39008975 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297728 S 1 0 1 "" NA18507 esv2386169 19 39008145 39008589 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621175 S 1 0 1 "" NA18507 nsv138149 19 39037820 39041611 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156727 M 24 "" esv2263495 19 39041425 39041848 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739736 S 1 0 1 "" NA18507 esv994185 19 39109095 39117995 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564929 S 3 0 1 "" HuRef nsv2466 19 39137238 39164530 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7438 S 9 0 1 "" NA12156 nsv526512 19 39237395 39245765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702822 S 2026 0 1 "" nsv524037 19 39275498 39301928 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699901 S 2026 0 1 "" nsv2467 19 39400857 39404541 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6781 S 9 1 0 LSM14A NA12156 nsv509737 19 39411460 39469969 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619748,nssv623756,nssv621072,nssv618130 M 4 4 0 KIAA0355,LSM14A CHM,NA10860,NA15510,NA18994 nsv9706 19 39418853 39423316 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25394,nssv26937,nssv27759,nssv27472,nssv24304,nssv26163,nssv23668,nssv24250,nssv27434,nssv21880,nssv25085,nssv26836,nssv25331,nssv24792,nssv25323,nssv26518,nssv28493,nssv22249,nssv25392,nssv27540,nssv25021,nssv24713,nssv22031,nssv24135,nssv25002,nssv24009 M 31 26 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 nsv821467 19 39418990 39422528 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420051 S 1 0 1 "" NA10851 nsv819051 19 39419237 39422624 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419534 S 2 1 0 "" AK1 dgv585n67 19 39419325 39422143 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828529,nsv828530 M 31 4 0 "" NA18542,NA18570,NA18951,NA18968 esv26765 19 39419344 39422528 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12485,esv12738 M 451 39 0 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv2468 19 39422052 39451984 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5739,nssv1448,nssv10992,nssv9854,nssv6782,nssv10185,nssv2995,nssv4354 M 9 8 0 KIAA0355 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv172 19 39422156 39434971 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv172 S 1 1 0 "" NA15510 esv997540 19 39428920 39428992 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565209 S 3 1 0 "" HuRef nsv509738 19 39534544 39595153 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621073,nssv623757,nssv618131,nssv619749 M 4 4 0 GPI,KIAA0355,PDCD2L CHM,NA10860,NA15510,NA18994 esv2864 19 39575269 39575507 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25305 S 1 0 0 Single Asian sample YH GPI YH nsv2469 19 39625701 39659348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4355 S 9 1 0 UBA2 NA12878 nsv517392 19 39650771 39688942 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684527,nssv692848,nssv676859,nssv692752,nssv672764,nssv675699,nssv660436,nssv654999,nssv701942,nssv662468,nssv693878,nssv661537,nssv656948,nssv664610,nssv687936,nssv666515,nssv679777,nssv660179,nssv651884,nssv691453,nssv687152,nssv677945,nssv663576,nssv705648,nssv671207 M 2026 1 24 UBA2,WTIP esv22345 19 39663860 39665587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11003 S 451 0 2 WTIP NA12489,NA18511 esv273594 19 39719825 39720186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580542,essv2579810 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv23085 19 39720234 39720942 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10187 S 451 0 1 "" NA18858 esv5547 19 39757148 39850512 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27988 S 1 0 0 LOC643719,SCGBL SJK esv997908 19 39761817 39767990 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563726 S 3 0 1 "" HuRef esv274246 19 39765347 39765671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580203,essv2580357,essv2579841,essv2580814,essv2579027,essv2579413 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv269980 19 39765362 39765661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506805,essv2507997,essv2508827,essv2500250,essv2511778,essv2510519,essv2494370,essv2493246,essv2509929,essv2496346,essv2493709,essv2494722,essv2501511,essv2506943,essv2497486,essv2499831,essv2512002,essv2501770,essv2498193,essv2503581 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11918,NA12003,NA12878,NA12891,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18517,NA18519,NA19093,NA19102,NA19147,NA19225,NA19238,NA19239,NA19240 nsv512580 19 39810964 39815362 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625190 S 1 0 1 "" 1 dgv1074e1 19 39817858 39984175 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4610,esv114 M 271 0 0 ZNF181,ZNF302,ZNF599 NA18524 nsv9707 19 39832159 39846418 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27480,nssv24817,nssv25812 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA19173 esv26852 19 39832238 39839942 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17083 S 451 0 4 "" NA18517,NA18861,NA19108,NA19147 nsv442763 19 39835983 39838570 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv22073 19 39874353 39874995 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12570 S 451 0 1 "" NA18858 nsv9708 19 39929473 39932142 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26212 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 esv1643430 19 39960145 39960236 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814524 S 2 0 1 "" HuRef nsv510474 19 40008307 40014307 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618448 S 4 0 1 LOC400685 CHM nsv520859 19 40008379 40036814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676421,nssv681853 M 2026 0 2 LOC400685 nsv138441 19 40105754 40105754 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157019 M 24 "" nsv523802 19 40126078 40126846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699631 S 2026 0 1 ZNF30 nsv911610 19 40175519 40226776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510331 S 6533 0 1 GRAMD1A,HPN,SCN1B SP54956 dgv3848n71 19 40175519 40294338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911611,nsv911612 M 6533 0 2 GRAMD1A,HPN,LOC100128675,SCN1B MS10311,MS17208 nsv911613 19 40198569 40226776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511073 S 6533 0 1 GRAMD1A,HPN,SCN1B SP54988 dgv3849n71 19 40262147 40360911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911616,nsv911615,nsv911614 M 6533 0 3 FXYD1,FXYD3,FXYD5,FXYD7,LGI4,LOC100128675 IS33504,MS13770,MS16153 nsv525108 19 40269710 40281760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701168 S 2026 0 1 LOC100128675 nsv911617 19 40279631 40334137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510332 S 6533 0 1 FXYD1,FXYD3,FXYD7,LGI4,LOC100128675 SP54956 esv1320761 19 40288738 40288738 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162247 S 2 1 0 LOC100128675 HuRef esv259532 19 40299410 40299669 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394224 S 6 0 0 Samples from several populations that are part of the HapMap project. FXYD3 NA12878 nsv138264 19 40299483 40299483 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156842 M 24 FXYD3 esv1002416 19 40299499 40299499 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571902 S 3 1 0 FXYD3 HuRef esv1471418 19 40299575 40299575 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978538 S 2 1 0 FXYD3 HuRef nsv138054 19 40299595 40299595 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156632 M 24 FXYD3 nsv137954 19 40300509 40301099 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156532 M 24 FXYD3 nsv819858 19 40306561 40307064 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418974 S 2 0 1 FXYD3 AK1 esv993226 19 40315079 40315654 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587193 S 3 0 1 LGI4 HuRef essv510 19 40345482 40359032 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FXYD5 NA18952 esv1374 19 40345482 40365173 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FXYD5 nsv2470 19 40347121 40394405 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4646,nssv4356 M 9 0 2 FXYD5 NA12878,NA19129 dgv1075e1 19 40350568 40359032 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv759,essv19859,essv18504,essv19156,essv6410,essv18015,essv22786,essv3333,essv3617,essv12091,essv19375,essv3263,essv3600 M 271 0 0 FXYD5 NA07019,NA12234,NA12753,NA12763,NA12812,NA12878,NA18545,NA18948,NA18966,NA18967,NA18969,NA19003,NA19099 dgv1076e1 19 40350568 40365173 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3644,essv3581,essv3512 M 271 0 0 FXYD5 NA18987,NA18991,NA18999 nsv516540 19 40352290 40377376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652467,nssv693531,nssv682844,nssv684675,nssv664551,nssv667843,nssv692467,nssv659660,nssv681907,nssv657163,nssv677962,nssv670002,nssv673375,nssv663412,nssv653075,nssv653116,nssv677790,nssv656611,nssv660672,nssv657740,nssv662815,nssv688932,nssv671892,nssv681693,nssv681304,nssv689069,nssv653745,nssv652068,nssv686446,nssv653522,nssv663730,nssv659561,nssv680450,nssv681038,nssv670880,nssv655133,nssv678942,nssv673924,nssv691938,nssv665727,nssv673279,nssv687849,nssv662228,nssv654521,nssv689954,nssv687986,nssv674930,nssv672442,nssv662343,nssv653978,nssv684117,nssv672864,nssv675504,nssv689606,nssv662250,nssv655280,nssv662835,nssv675407,nssv667708,nssv676378,nssv676008,nssv674790,nssv675871,nssv652555,nssv693101,nssv692580,nssv661805,nssv663282,nssv662575,nssv667088,nssv676584,nssv652215,nssv682958,nssv665926,nssv685775,nssv666590,nssv676261,nssv681872,nssv691725,nssv671777,nssv661759,nssv683261,nssv668492,nssv662623,nssv660229,nssv671659,nssv684256,nssv675466,nssv692295,nssv688503,nssv667896,nssv671174,nssv664106,nssv681252,nssv671747,nssv674147,nssv652344,nssv654157,nssv671826,nssv683923,nssv659088,nssv678533,nssv670314,nssv690889,nssv693311,nssv693258,nssv652095,nssv676518,nssv659369,nssv670285,nssv680796,nssv683380,nssv677674,nssv690832,nssv657109,nssv688048 M 2026 0 116 FXYD5 nsv9709 19 40352601 40359169 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24789,nssv24306 M 31 0 2 Samples from several populations that are part of the HapMap project. FXYD5 NA10863,NA18552 dgv586n67 19 40352819 40356844 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828534,nsv828532,nsv828535 M 31 0 7 "" AK14,AK4,AK8,NA18566,NA18570,NA18969,NA18999 nsv828533 19 40352819 40359093 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434093,nssv1428746,nssv1431012,nssv1423039 M 31 0 4 "" AK10,AK16,NA18526,NA18552 nsv498898 19 40352919 40357640 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585759 S 9 0 1 "" esv9184 19 40352926 40357641 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31625 S 1 0 1 "" SJK esv22868 19 40353025 40358078 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13653 S 451 0 7 "" NA07037,NA11894,NA12004,NA12749,NA12878,NA19099,NA19129 nsv819243 19 40353124 40357867 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419660 S 2 0 1 "" AK1 dgv406n27 19 40353627 40354649 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458561,nsv458558,nsv458539,nsv458537,nsv458549,nsv458554,nsv458559,nsv458560,nsv458557,nsv458542,nsv458544,nsv458545,nsv458556,nsv458546,nsv458543,nsv458548,nsv458541,nsv458547,nsv458538,nsv458536,nsv458553,nsv458565,nsv458555,nsv458550,nsv458564,nsv458562 M 1557 0 26 "" 1780846320_A,1780862007_A,1780862162_A,HGDP00684,HGDP00759,HGDP00760,HGDP00769,HGDP00785,HGDP00958,HGDP00975,HGDP01067,HGDP01097,HGDP01195,HGDP01203,HGDP01222,HGDP01230,HGDP01290,HGDP01291,HGDP01311,HGDP01321,HGDP01333,HGDP01334,HGDP01340,HGDP01349,NINDS_14,NINDS_61 nsv817830 19 40353627 40354649 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416110,nssv1417481,nssv1416109,nssv1416203,nssv1416108,nssv1416202,nssv1418112 M 112 0 7 "" NA11881,NA12801,NA12812,NA12813,NA12878,NA12891,NA18965 nsv817831 19 40353627 40365083 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417791,nssv1417792 M 112 0 2 "" NA10863,NA12234 nsv514896 19 40354032 40356692 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628334 S 1414 0 1 "" dgv1077e1 19 40355683 40356647 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6784,essv25039 M 271 0 0 "" NA12801,NA18594 dgv1078e1 19 40355683 40359032 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2134,essv708,essv23723,essv4336,essv5954 M 271 0 0 "" NA12813,NA18577,NA18622,NA18940,NA18978 dgv1079e1 19 40355683 40361844 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19886,essv22688 M 271 0 0 "" NA11881,NA12004 essv20713 19 40355683 40365173 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12752 nsv510765 19 40400066 40582508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620119 S 4 0 1 CD22,FAM187B,FFAR1,FFAR3,HAMP,LSR,MAG,USF2 NA15510 dgv1080e1 19 40402918 40578953 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24365,esv394,essv7208,essv17963 M 271 0 0 CD22,FAM187B,FFAR1,FFAR3,HAMP,LSR,MAG,USF2 NA12003,NA12707,NA18547 nsv9710 19 40412021 40416734 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24739 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv524195 19 40414066 40415840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700078 S 2026 0 1 "" nsv911618 19 40425947 40499685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547024 S 6533 0 1 HAMP,LSR,MAG,USF2 MS17208 dgv3850n71 19 40441403 40467281 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911619,nsv911622,nsv911620,nsv911623,nsv911621 M 6533 0 5 HAMP,LSR,USF2 SP54672,SP54725,SP54956,SP54988,SP55021 esv27788 19 40449880 40452896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12105,esv18325 M 451 0 2 LSR,USF2 NA12489,NA18511 nsv911624 19 40450883 40463222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500825 S 6533 0 1 USF2 SP51109 nsv512581 19 40471401 40473402 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625191 S 1 0 1 "" 1 nsv833810 19 40474428 40663799 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454678 S 95 1 0 CD22,FFAR1,FFAR2,FFAR3,LOC100128682,MAG esv1763084 19 40480456 40480892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029516 S 2 0 1 MAG HuRef nsv9711 19 40489030 40497036 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25348 S 31 0 1 Samples from several populations that are part of the HapMap project. MAG NA18537 esv1006379 19 40490412 40502661 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565539 S 3 0 1 MAG HuRef nsv173 19 40529245 40558675 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv173 S 1 0 1 CD22,FFAR1,FFAR3 NA15510 nsv2471 19 40529245 40594955 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1449,nssv2219,nssv10993 M 9 0 3 CD22,FFAR1,FFAR3,LOC100128682 NA15510,NA18555,NA19240 nsv9712 19 40540646 40556247 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24161,nssv22061,nssv25046,nssv24330,nssv21940,nssv25077,nssv25071,nssv25096,nssv25520,nssv25102,nssv21605,nssv25474,nssv25419,nssv25052,nssv27498,nssv21910,nssv25027,nssv21970,nssv24332,nssv25121,nssv22121,nssv24790,nssv25497,nssv24765,nssv22000 M 31 0 11 Samples from several populations that are part of the HapMap project. FFAR3 NA07048,NA10847,NA10863,NA12740,NA12802,NA12872,NA18563,NA18564,NA18972,NA18975,NA19007 esv32683 19 40540647 40556189 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101433,essv97594,essv101208,essv93939,essv96844,essv96761,essv101045,essv94023,essv94406,essv97962,essv97828,essv93039,essv95265,essv97336,essv101680,essv95829,essv94476,essv92806,essv92810,essv96200,essv96709,essv97240,essv95938,essv93551,essv93278,essv99716,essv95031,essv92562,essv96554,essv96450,essv99310,essv97779,essv100575,essv100559,essv94274 M 51 25 5 FFAR3 21603,21616,21618,21634,21659,21693,21802,21808,21837,21863,21872,21879,21909,21911,21932,21944,22007,22011,22075,22127,22128,22170,22217,22231,22233,22261,22275,22278,22298,22394 nsv828536 19 40540885 40544107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429502 S 31 0 1 FFAR3 AK12 nsv828537 19 40540885 40557709 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424672 S 31 0 1 FFAR3 NA18582 nsv820224 19 40540915 40554850 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418641 S 2 1 0 FFAR3 AK1 esv25268 19 40541094 40557441 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13778 S 451 0 8 FFAR3 NA07037,NA11894,NA11995,NA12239,NA12287,NA12776,NA12828,NA15510 nsv514897 19 40541312 40553580 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628335 S 1414 0 1 FFAR3 esv2421571 19 40541333 40553688 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5026774,essv5027780,essv5091565,essv5083323,essv5038325,essv5046937,essv5043328,essv5055785,essv5091943,essv5160072,essv5150125,essv5027474,essv5011325,essv5097707,essv5155356,essv5047311,essv5046343,essv5112544,essv5080632,essv5029671,essv5070244,essv5077007,essv5012413,essv5130743,essv5091625,essv5093750,essv5039002,essv5004646,essv5123644,essv5108377,essv5039046,essv5060806,essv5101518,essv5059052,essv5099470,essv5077900,essv5128184,essv5153147,essv5055012,essv5095872,essv5116129,essv5145675,essv5004168,essv5133096,essv5037317,essv5156930,essv5039529,essv5158880,essv5138457,essv5113694,essv5071512,essv5126852,essv5111189,essv5060952,essv5013437,essv5088417,essv5076185,essv5132599,essv5017132,essv5025860,essv5119961,essv5072534,essv5055352,essv5012443,essv5030306,essv5141841,essv5133328,essv5138184,essv5050854,essv5151551,essv5156884,essv5007624,essv5011981,essv5019673,essv5147971,essv5053297,essv5081870,essv5003082,essv5086644,essv5116659,essv5028798,essv5107157,essv5104689,essv5156783,essv5143565,essv5129760,essv5052730,essv5092662,essv5035624,essv5107691,essv5063770,essv5051802,essv5134926,essv5132082,essv5160730,essv5067449,essv5031550,essv5148478,essv5095239,essv5020609,essv5051171,essv5108079,essv5076181,essv5091498,essv5031375,essv5004133,essv5101305,essv5123254,essv5051195,essv5102889,essv5027466,essv5008501,essv5100183,essv5010320,essv5040634,essv5134209,essv5034054,essv5025606,essv5025688,essv5156158,essv5154420,essv5129817,essv5143250,essv5149860,essv5043874,essv5049680,essv5039465,essv5154634,essv5010009,essv5044505,essv5085648,essv5005191,essv5080625,essv5067790,essv5103158,essv5007349,essv5084620,essv5099357,essv5118522,essv5098230,essv5037257,essv5107460,essv5039660,essv5018838,essv5055709,essv5017538,essv5016125,essv5088610,essv5095921,essv5087635,essv5017460,essv5058176,essv5141784,essv5051832,essv5067051,essv5106166,essv5073917,essv5095676,essv5102118,essv5005420,essv5017973,essv5135642,essv5112958,essv5120875,essv5107371,essv5056081,essv5081584,essv5090031,essv5053295,essv5138005,essv5134401,essv5102396,essv5066730,essv5109271,essv5089878,essv5091126,essv5130451,essv5107535,essv5096549,essv5063360,essv5045588,essv5034956,essv5115354,essv5104657,essv5039860,essv5077188,essv5018421,essv5110446,essv5084654,essv5050487,essv5105287,essv5144815,essv5091037,essv5061377,essv5120461,essv5015229,essv5103059,essv5068515,essv5090837,essv5134090,essv5067934,essv5058794,essv5124982,essv5067496,essv5103352,essv5039280,essv5060148,essv5116402,essv5009555,essv5058602,essv5116901,essv5133561,essv5103792,essv5041672,essv5005031,essv5064503,essv5108420,essv5143936,essv5145590,essv5124144,essv5159750,essv5109282,essv5054074,essv5031121,essv5103494,essv5031434,essv5113822,essv5132516,essv5009571,essv5136737,essv5040018,essv5056208,essv5012621,essv5134747,essv5028649,essv5139103,essv5066575,essv5025719,essv5095514,essv5065274,essv5139967,essv5031819,essv5060232,essv5068343,essv5049805,essv5040576,essv5006440,essv5077960,essv5123696,essv5118145,essv5039907,essv5061487,essv5145443,essv5031137,essv5011634,essv5123842,essv5060624,essv5066075,essv5062870,essv5031578,essv5139250,essv5030631,essv5068953,essv5028669,essv5066101,essv5151829,essv5009273,essv5022263,essv5124767,essv5054196,essv5051364,essv5071655,essv5100942,essv5135565,essv5119305,essv5148732,essv5041992,essv5009572,essv5084937,essv5052986,essv5154745 M 1184 0 281 FFAR3 NA06984,NA06994,NA06995,NA07022,NA07031,NA07037,NA07345,NA07435,NA10835,NA10836,NA10837,NA10838,NA10840,NA10846,NA10847,NA10852,NA10854,NA10855,NA10863,NA10864,NA10865,NA11831,NA11832,NA11839,NA11843,NA11891,NA11893,NA11894,NA11917,NA11992,NA11994,NA11995,NA12003,NA12045,NA12056,NA12144,NA12146,NA12154,NA12234,NA12239,NA12249,NA12264,NA12272,NA12275,NA12282,NA12283,NA12287,NA12335,NA12336,NA12340,NA12342,NA12344,NA12347,NA12375,NA12383,NA12399,NA12413,NA12707,NA12716,NA12740,NA12750,NA12751,NA12752,NA12761,NA12766,NA12767,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12814,NA12815,NA12817,NA12827,NA12828,NA12832,NA12843,NA12864,NA12865,NA12872,NA12874,NA12877,NA12889,NA12890,NA17962,NA17969,NA17974,NA17975,NA17986,NA17988,NA17995,NA17996,NA18105,NA18106,NA18108,NA18114,NA18117,NA18127,NA18132,NA18133,NA18134,NA18138,NA18139,NA18148,NA18153,NA18157,NA18158,NA18160,NA18166,NA18529,NA18532,NA18534,NA18543,NA18545,NA18555,NA18562,NA18563,NA18564,NA18570,NA18573,NA18576,NA18579,NA18582,NA18593,NA18595,NA18597,NA18599,NA18608,NA18610,NA18612,NA18618,NA18619,NA18621,NA18624,NA18630,NA18631,NA18632,NA18635,NA18636,NA18638,NA18639,NA18640,NA18642,NA18643,NA18674,NA18685,NA18702,NA18704,NA18747,NA18748,NA18749,NA18940,NA18943,NA18946,NA18948,NA18951,NA18953,NA18954,NA18960,NA18961,NA18963,NA18966,NA18967,NA18968,NA18970,NA18972,NA18975,NA18977,NA18987,NA18991,NA18993,NA18995,NA18998,NA19002,NA19007,NA19009,NA19010,NA19059,NA19060,NA19062,NA19064,NA19066,NA19075,NA19076,NA19078,NA19080,NA19084,NA19193,NA19651,NA19663,NA19665,NA19669,NA19671,NA19681,NA19684,NA19686,NA19704,NA19705,NA19716,NA19718,NA19725,NA19727,NA19746,NA19747,NA19748,NA19749,NA19751,NA19755,NA19757,NA19761,NA19763,NA19771,NA19777,NA19783,NA19784,NA19900,NA19902,NA19908,NA19919,NA19921,NA19982,NA19983,NA20129,NA20287,NA20288,NA20322,NA20356,NA20358,NA20502,NA20504,NA20505,NA20512,NA20515,NA20517,NA20518,NA20524,NA20525,NA20534,NA20539,NA20540,NA20543,NA20544,NA20582,NA20586,NA20754,NA20768,NA20769,NA20773,NA20775,NA20783,NA20787,NA20796,NA20799,NA20801,NA20808,NA20811,NA20813,NA20826,NA20875,NA20882,NA20890,NA20900,NA20908,NA20909,NA20910,NA21086,NA21103,NA21107,NA21111,NA21119,NA21297,NA21339,NA21378,NA21421,NA21608,NA21611,NA21614,NA21689,NA21693 nsv442764 19 40541333 40553688 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FFAR3 nsv833811 19 40542097 40721375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454679 S 95 1 0 DMKN,FFAR2,FFAR3,GAPDHS,KRTDAP,LOC100128682,SBSN nsv498899 19 40542399 40555983 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585760 S 9 0 1 FFAR3 esv1002795 19 40543454 40544781 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586997 S 3 1 0 "" HuRef nsv828538 19 40543454 40544781 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423299,nssv1432563,nssv1433347,nssv1430785,nssv1434803 M 31 0 5 "" AK20,NA18547,NA18570,NA18968,NA18972 dgv587n67 19 40543454 40556141 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828540,nsv828539 M 31 0 4 "" AK4,NA18564,NA18951,NA18973 nsv828541 19 40544858 40546811 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440747 S 31 0 1 "" NA18564 nsv828543 19 40547881 40553723 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433348 S 31 0 1 "" NA18972 dgv3851n71 19 40548765 40588307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911626,nsv911625 M 6533 0 7 "" IS30127,IS38459,MS12188,MS12861,MS15168,MS19159,MS22224 nsv911627 19 40548765 40613106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591465 S 6533 0 1 LOC100128682 IS38840 esv270006 19 40560649 40560734 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517143 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv9714 19 40576676 40579416 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25543 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12740 nsv911628 19 40691331 40748093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530970 S 6533 0 1 ATP4A,DMKN,GAPDHS,LOC100506469,SBSN,TMEM147 MS10311 esv1008611 19 40694211 40694261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569103 S 3 0 1 DMKN HuRef nsv138144 19 40694221 40694271 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156722 M 24 DMKN esv27260 19 40709870 40711575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19504 S 451 0 1 SBSN NA18916 esv1366374 19 40710481 40710535 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003156 S 2 0 1 SBSN HuRef esv1003511 19 40710483 40710536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584881 S 3 0 1 SBSN HuRef esv2599797 19 40809522 40811364 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321885 S 1 0 1 "" NA18507 nsv911629 19 40814726 40828289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510334 S 6533 0 1 ETV2,RBM42 SP54956 dgv3852n71 19 40841601 40982817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911630,nsv911632,nsv911631 M 6533 0 3 ARHGAP33,C19orf55,HSPB6,IGFLR1,LIN37,MLL4,PRODH2,PSENEN,U2AF1L4,UPK1A,ZBTB32 MS16153,MS17208,SP54956 nsv526166 19 40848428 40851208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702426 S 2026 0 1 UPK1A nsv817832 19 40848428 40851208 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417794 S 112 0 1 UPK1A NA12264 nsv138418 19 40882496 40885771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156996 M 24 "" dgv3853n71 19 40897890 40982817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911634,nsv911633,nsv911635 M 6533 0 3 ARHGAP33,C19orf55,HSPB6,IGFLR1,LIN37,MLL4,PRODH2,PSENEN,U2AF1L4,ZBTB32 IS34057,MS17522,MS18276 nsv828544 19 40899031 40902598 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434094 S 31 1 0 MLL4,ZBTB32 NA18526 nsv515536 19 40911365 40932800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663852,nssv690309,nssv704831,nssv663674,nssv658673,nssv674588,nssv691805,nssv670781 M 2026 0 8 IGFLR1,LIN37,MLL4,PSENEN,U2AF1L4 nsv911636 19 40932800 40982817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595449,nssv1573976,nssv1571585 M 6533 0 3 ARHGAP33,C19orf55,HSPB6,LIN37,PRODH2 IS32737,IS33504,IS40230 nsv819381 19 40937482 40937796 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418604 S 2 1 0 HSPB6 AK1 nsv911637 19 40953768 41001161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576987 S 6533 0 1 ARHGAP33,PRODH2 IS34304 nsv911638 19 40957348 41229799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592451 S 6533 0 1 ALKBH6,APLP1,ARHGAP33,C19orf46,CLIP3,HCST,KIRREL2,LRFN3,NFKBID,NPHS1,PRODH2,SDHAF1,THAP8,TYROBP IS39233 esv2481755 19 41018511 41019289 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370871 S 1 1 0 NPHS1 NA18507 esv1600817 19 41018811 41018811 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651135 S 2 1 0 NPHS1 HuRef dgv51n68 19 41023753 41199434 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833812,nsv833813 M 95 0 5 ALKBH6,APLP1,C19orf46,CLIP3,HCST,KIRREL2,LRFN3,NFKBID,NPHS1,SDHAF1,TYROBP nsv911639 19 41034749 41057825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510336 S 6533 0 1 APLP1,KIRREL2 SP54956 nsv911640 19 41045720 41057825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511075 S 6533 0 1 APLP1,KIRREL2 SP54988 nsv911641 19 41165517 41228778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510337 S 6533 0 1 ALKBH6,C19orf46,CLIP3,SDHAF1,THAP8 SP54956 esv1000212 19 41186483 41200348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564627 S 3 0 1 ALKBH6,C19orf46,CLIP3 HuRef nsv833815 19 41211643 41316776 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454687,nssv1454686,nssv1454685 M 95 0 3 CLIP3,POLR2I,TBCB,THAP8,WDR62 dgv3854n71 19 41312618 41343339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911643,nsv911642,nsv911647,nsv911645 M 6533 0 5 CAPNS1,COX7A1 SP54593,SP54672,SP54725,SP54956,SP55021 dgv3855n71 19 41320303 41335535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911644,nsv911646 M 6533 0 2 CAPNS1,COX7A1 SP54988,SP55019 esv1150407 19 41345673 41345991 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627293 S 2 0 1 "" HuRef esv1925186 19 41354390 41354982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798402 S 1 0 1 "" NA18507 nsv138090 19 41356681 41358859 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156668 M 24 "" esv1010122 19 41378022 41380821 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564947 S 3 1 0 ZNF565 HuRef nsv509739 19 41387373 41496199 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621074 S 4 1 0 LOC100134317,LOC100506930,ZNF146,ZNF565 NA15510 nsv520020 19 41413208 41514434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692753,nssv660125 M 2026 0 2 LOC100134317,LOC100506930,ZNF146 nsv9715 19 41421528 41503589 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23726,nssv25834,nssv27536,nssv26948,nssv24187,nssv25110,nssv22279,nssv28494,nssv21635,nssv24356,nssv27766,nssv27548,nssv24815,nssv26907,nssv27488 M 31 10 5 Samples from several populations that are part of the HapMap project. LOC100134317,LOC100506930 NA07048,NA10839,NA10847,NA18502,NA18504,NA18517,NA18563,NA18572,NA18860,NA18942,NA18972,NA18975,NA19173,NA19221,NA19240 nsv511620 19 41441644 41493742 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626251 S 1 0 1 "" 1 nsv820362 19 41441803 41499141 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420052 S 1 0 1 LOC100134317,LOC100506930 NA10851 esv23652 19 41449253 41494562 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16483 S 451 16 6 LOC100134317 NA06985,NA11894,NA11931,NA11995,NA12004,NA12044,NA12749,NA15510,NA18502,NA18508,NA18517,NA18523,NA18907,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv2472 19 41454921 41460426 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6783 S 9 1 0 "" NA12156 nsv2473 19 41490030 41505792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9553 S 9 1 0 LOC100134317,LOC100506930 NA18507 nsv2474 19 41496309 41557255 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4357,nssv2220,nssv10994 M 9 0 3 LOC100506930,ZFP14 NA12878,NA15510,NA18555 nsv833816 19 41516097 41726127 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454688 S 95 1 0 LOC644189,LOC728752,ZFP14,ZFP82,ZNF260,ZNF566 nsv174 19 41523559 41557255 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv174 S 1 0 1 ZFP14 NA15510 nsv821399 19 41532042 41539211 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420053 S 1 0 1 ZFP14 NA10851 nsv9716 19 41532090 41543017 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27544,nssv22030,nssv24213,nssv25127,nssv27773,nssv23753,nssv25135 M 31 6 1 Samples from several populations that are part of the HapMap project. ZFP14 NA10839,NA12802,NA18860,NA18942,NA18972,NA18975,NA19007 esv26179 19 41532106 41538865 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10192,esv11683 M 451 32 0 ZFP14 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv436255 19 41532262 41540104 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465683 S 2 0 1 Samples from several populations that are part of the HapMap project. ZFP14 NA18505 nsv498900 19 41532591 41538914 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585761 S 9 0 1 ZFP14 esv1010898 19 41532930 41538865 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586685 S 3 1 0 ZFP14 HuRef nsv514898 19 41532972 41538736 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628337 S 1414 0 1 ZFP14 esv2421498 19 41534966 41539338 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064730,essv5117466,essv5103250,essv5016470,essv5107181,essv5105298,essv5036498,essv5011776,essv5150059,essv5016770,essv5068692,essv5006655,essv5016133,essv5077087,essv5092736,essv5073109,essv5080382,essv5039166,essv5061990,essv5142075,essv5019007,essv5073676,essv5027934,essv5121561,essv5082082,essv5101260,essv5053963,essv5022926,essv5152103,essv5065109,essv5042604,essv5060663,essv5157962,essv5003928,essv5158997,essv5122422,essv5151524,essv5085510,essv5050400,essv5026387,essv5035705,essv5069126,essv5035599,essv5075608,essv5042841,essv5107743,essv5125760,essv5094035,essv5132682,essv5145921,essv5050425,essv5093508,essv5048084,essv5090147,essv5009920,essv5116275,essv5046024,essv5157048,essv5050634,essv5016963,essv5075849,essv5093060,essv5069827,essv5091014,essv5109206,essv5012622,essv5013897,essv5148597,essv5044633,essv5121926,essv5149479,essv5159791,essv5114845,essv5050416,essv5056339,essv5132371,essv5095159,essv5096123,essv5029467,essv5146492,essv5143884,essv5081996,essv5144452,essv5058892,essv5077892,essv5025525,essv5117993,essv5137581,essv5134251,essv5018170,essv5140735,essv5095060,essv5074663,essv5042871,essv5057202,essv5083471,essv5028998,essv5039300,essv5043936,essv5102764,essv5029713,essv5072516,essv5112543,essv5019078,essv5078101,essv5124009,essv5158933,essv5055082,essv5078292,essv5157811,essv5050742,essv5148430,essv5040316,essv5136732,essv5002591,essv5045819,essv5148190,essv5032598,essv5045764,essv5066228,essv5136954,essv5051318,essv5101134,essv5071757,essv5035767,essv5081899,essv5127712,essv5084425,essv5139989,essv5145161,essv5043276,essv5072365,essv5045206,essv5083540,essv5035890,essv5008563,essv5122906,essv5126902,essv5073727,essv5096093,essv5061188,essv5112354,essv5065096,essv5061654,essv5002550,essv5139663,essv5055163,essv5105020,essv5122405,essv5102623,essv5010504,essv5010225,essv5059821,essv5101741,essv5044138,essv5063014,essv5110563,essv5062003,essv5020600,essv5145057,essv5052472,essv5033008,essv5128784,essv5136220,essv5155026,essv5042465,essv5131277,essv5095688,essv5141868,essv5087676,essv5096136,essv5110471,essv5003355,essv5063519,essv5011478,essv5139249,essv5074817,essv5129962,essv5124508,essv5039171,essv5076683,essv5031397,essv5097378,essv5072500,essv5008936,essv5071748,essv5155595,essv5149559,essv5157241,essv5135606,essv5063002,essv5009141,essv5046780,essv5072820,essv5005651,essv5009658,essv5070904,essv5127925,essv5066969,essv5131292,essv5002909,essv5065768,essv5032126,essv5159898,essv5123367,essv5138713,essv5008637,essv5086452,essv5155807,essv5033385,essv5139822,essv5124973,essv5093487,essv5077789,essv5064639,essv5128824,essv5007475,essv5099349,essv5025040,essv5118180,essv5073460,essv5158628,essv5055238,essv5142929,essv5107465,essv5068153,essv5096528,essv5095385,essv5068922,essv5046956,essv5144992,essv5096851,essv5067478,essv5005554,essv5040968,essv5071214,essv5054317,essv5079376,essv5131356,essv5096411,essv5141875,essv5130720,essv5061178,essv5072979,essv5117252,essv5071188,essv5123403,essv5146550,essv5111053,essv5099392,essv5076922,essv5017680,essv5016591,essv5077525,essv5106916,essv5060319,essv5052647,essv5053259,essv5075314,essv5086779,essv5159173,essv5111071,essv5064494,essv5128705,essv5145294,essv5121533,essv5007518,essv5009954,essv5145633,essv5109852,essv5157171,essv5150644,essv5073976,essv5027521,essv5137031,essv5108949,essv5058305,essv5114067,essv5124888,essv5031609,essv5128017,essv5049961,essv5119221,essv5063686,essv5123446,essv5101335,essv5070017,essv5147364,essv5112831,essv5124688,essv5047085,essv5066515,essv5152560,essv5114430,essv5048806,essv5003634,essv5120581,essv5068170,essv5002702,essv5044200,essv5090875,essv5007801,essv5086626,essv5154961,essv5044163,essv5153574,essv5091403,essv5120400,essv5079091,essv5006969,essv5044323,essv5073694,essv5144317,essv5053426,essv5088602,essv5016158,essv5008699,essv5140169,essv5029011,essv5065681,essv5113948,essv5067164 M 1184 0 322 ZFP14 NA06984,NA06986,NA06989,NA06993,NA06994,NA06997,NA07014,NA07031,NA07056,NA07345,NA07346,NA07348,NA07357,NA10840,NA10847,NA10852,NA10859,NA10865,NA11843,NA11882,NA11892,NA11893,NA11919,NA11931,NA12045,NA12056,NA12146,NA12239,NA12282,NA12342,NA12343,NA12344,NA12348,NA12546,NA12708,NA12740,NA12750,NA12761,NA12767,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12814,NA12815,NA12864,NA12872,NA12873,NA12878,NA12892,NA17965,NA17969,NA17974,NA17975,NA17977,NA17981,NA17982,NA17986,NA17987,NA17990,NA17995,NA18102,NA18114,NA18117,NA18122,NA18125,NA18129,NA18131,NA18132,NA18135,NA18138,NA18144,NA18148,NA18151,NA18152,NA18155,NA18157,NA18158,NA18161,NA18484,NA18487,NA18488,NA18497,NA18498,NA18505,NA18518,NA18519,NA18524,NA18526,NA18536,NA18543,NA18555,NA18561,NA18564,NA18573,NA18577,NA18592,NA18594,NA18595,NA18596,NA18597,NA18602,NA18610,NA18615,NA18617,NA18619,NA18623,NA18624,NA18628,NA18630,NA18635,NA18637,NA18639,NA18640,NA18643,NA18670,NA18685,NA18702,NA18704,NA18749,NA18757,NA18853,NA18854,NA18862,NA18868,NA18874,NA18875,NA18909,NA18924,NA18933,NA18935,NA18947,NA18961,NA18964,NA18965,NA18970,NA18971,NA18974,NA18976,NA18977,NA18978,NA18979,NA18987,NA18993,NA18997,NA19009,NA19010,NA19044,NA19055,NA19058,NA19060,NA19063,NA19064,NA19068,NA19074,NA19078,NA19080,NA19081,NA19083,NA19087,NA19095,NA19097,NA19102,NA19103,NA19122,NA19123,NA19159,NA19171,NA19172,NA19173,NA19192,NA19194,NA19206,NA19209,NA19211,NA19214,NA19221,NA19223,NA19236,NA19247,NA19248,NA19249,NA19314,NA19321,NA19347,NA19385,NA19437,NA19438,NA19440,NA19654,NA19663,NA19670,NA19681,NA19682,NA19683,NA19700,NA19702,NA19713,NA19716,NA19718,NA19720,NA19721,NA19746,NA19749,NA19751,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19771,NA19772,NA19776,NA19777,NA19778,NA19783,NA19784,NA19788,NA19900,NA19901,NA19902,NA19904,NA19909,NA19916,NA19919,NA19921,NA20129,NA20279,NA20282,NA20284,NA20294,NA20297,NA20301,NA20302,NA20317,NA20319,NA20334,NA20337,NA20346,NA20350,NA20359,NA20502,NA20504,NA20506,NA20508,NA20519,NA20520,NA20521,NA20524,NA20525,NA20529,NA20530,NA20539,NA20540,NA20541,NA20542,NA20581,NA20586,NA20756,NA20758,NA20765,NA20766,NA20771,NA20774,NA20778,NA20790,NA20796,NA20797,NA20799,NA20800,NA20801,NA20804,NA20806,NA20816,NA20828,NA20845,NA20856,NA20859,NA20861,NA20869,NA20870,NA20873,NA20876,NA20879,NA20898,NA20904,NA20907,NA20909,NA21086,NA21094,NA21097,NA21105,NA21109,NA21112,NA21113,NA21116,NA21137,NA21336,NA21418,NA21420,NA21424,NA21440,NA21447,NA21451,NA21478,NA21480,NA21485,NA21509,NA21524,NA21529,NA21573,NA21582,NA21583,NA21600,NA21601,NA21616,NA21716,NA21718,NA21738 nsv911648 19 41606011 41739312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546287 S 6533 0 1 LOC728752,ZNF260,ZNF529,ZNF566 MS17126 nsv833817 19 41670692 41887535 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454689 S 95 0 1 LOC728752,ZNF260,ZNF382,ZNF461,ZNF529,ZNF566,ZNF567 esv2570514 19 41737464 41738966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286270 S 1 0 1 ZNF529 NA18507 esv2205269 19 41737829 41738552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969842 S 1 0 1 ZNF529 NA18507 nsv138053 19 41738022 41738337 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156631 M 24 ZNF529 esv1008911 19 41738029 41738344 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570377 S 3 0 1 ZNF529 HuRef esv1768990 19 41738035 41738351 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266277 S 2 0 1 ZNF529 HuRef nsv469794 19 41821698 42002097 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649815 M 265 0 0 Samples from several populations that are part of the HapMap project. LOC284408,ZNF461,ZNF567,ZNF790,ZNF850 esv34384 19 41825908 42022453 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979102,essv6979101 M 771 0 1 LOC284408,ZNF461,ZNF567,ZNF790,ZNF850 NA12891 nsv817833 19 41838534 42049129 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416204 S 112 0 1 LOC284408,ZNF345,ZNF461,ZNF567,ZNF790,ZNF850 NA12891 nsv2475 19 41843381 41861780 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2996 S 9 1 0 ZNF461 NA18555 nsv470139 19 41863041 41956030 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546503 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF567,ZNF850 HGDP00633 nsv911649 19 41895089 41949032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505593 S 6533 0 1 ZNF567,ZNF850 SP53687 esv2044965 19 41911176 41911767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830639 S 1 0 1 "" NA18507 esv271514 19 41932151 41932927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516385 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF850 NA12814 nsv911650 19 41932981 42023454 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554025,nssv1560210 M 6533 2 0 LOC284408,ZNF790,ZNF850 MS20543,MS24372 nsv521605 19 41953650 42175284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698221 S 2026 0 1 LOC284408,ZNF345,ZNF568,ZNF790,ZNF829,ZNF850 nsv513525 19 41973015 41973593 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625939 S 1 1 0 "" 1 esv2469327 19 41975630 41977165 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191789 S 1 0 1 "" NA18507 esv987534 19 41975684 41976051 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563981 S 3 0 1 "" HuRef esv1958565 19 41975958 41976672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540335 S 1 0 1 "" NA18507 esv8220 19 41976145 41976474 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30661 S 1 0 1 "" SJK esv991819 19 41976168 41976477 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574631 S 3 0 1 "" HuRef esv1499603 19 41976175 41976485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749863 S 2 0 1 "" HuRef nsv911651 19 41992394 42120305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528384 S 6533 0 1 LOC284408,ZNF345,ZNF568,ZNF790,ZNF829 SP81212 nsv458569 19 42023454 42104727 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535481 S 1557 0 1 ZNF345,ZNF568,ZNF790,ZNF829 NINDS_142 nsv523848 19 42049129 42179472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699682 S 2026 0 1 ZNF345,ZNF568,ZNF829 nsv819209 19 42061188 42062100 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419118 S 2 0 1 ZNF345 AK1 nsv524754 19 42075734 42095064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700745 S 2026 0 1 ZNF345,ZNF829 nsv833818 19 42119648 42294640 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454690 S 95 1 0 ZNF420,ZNF568 dgv3856n71 19 42128946 42466139 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911654,nsv911652 M 6533 2 0 LOC284412,ZNF383,ZNF420,ZNF568,ZNF585A,ZNF585B IS30616,IS34382 nsv509740 19 42153620 42224450 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623758 S 4 1 0 ZNF568 NA18994 esv2370712 19 42155093 42155523 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758971 S 1 0 1 ZNF568 NA18507 esv990224 19 42155283 42155350 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581924 S 3 0 1 ZNF568 HuRef nsv138138 19 42155284 42155351 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156716 M 24 ZNF568 nsv138492 19 42157587 42158440 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157070 M 24 ZNF568 nsv911653 19 42173991 42248513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503064 S 6533 1 0 ZNF568 SP51481 nsv2477 19 42309188 42354047 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7439 S 9 0 1 ZNF420,ZNF585A NA12156 nsv828545 19 42332401 42333315 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423869 S 31 0 1 ZNF585A NA18999 nsv911655 19 42338585 42449922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507013 S 6533 0 1 LOC284412,ZNF383,ZNF585A,ZNF585B SP54455 nsv9717 19 42413600 42488538 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24382,nssv28495,nssv27556,nssv24239,nssv22309,nssv23780,nssv21665,nssv27780,nssv24840,nssv25190,nssv26918,nssv25855,nssv26958,nssv27552,nssv27496 M 31 10 5 Samples from several populations that are part of the HapMap project. LOC284412,ZNF383 NA07048,NA10839,NA10847,NA18502,NA18504,NA18517,NA18563,NA18572,NA18860,NA18942,NA18972,NA18975,NA19173,NA19221,NA19240 esv2580999 19 42424195 42425069 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262761 S 1 1 0 ZNF383 NA18507 esv1445664 19 42424829 42424829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115433 S 2 1 0 ZNF383 HuRef esv1570552 19 42424848 42424848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766837 S 2 1 0 ZNF383 HuRef nsv509741 19 42447892 42497859 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619750,nssv618132,nssv621075,nssv623759 M 4 4 0 LOC284412 CHM,NA10860,NA15510,NA18994 nsv821351 19 42448239 42488333 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420054 S 1 0 1 LOC284412 NA10851 esv28051 19 42448749 42486693 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12700 S 451 16 5 LOC284412 NA11894,NA11931,NA11995,NA12004,NA12044,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 dgv1081e1 19 42486690 42743446 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1065,essv23630 M 271 0 0 HKR1,LOC100507433,ZNF527,ZNF540,ZNF569,ZNF570,ZNF793 NA07055 nsv9718 19 42530910 42544712 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27560,nssv23807,nssv24265,nssv26532,nssv25215 M 31 0 5 Samples from several populations that are part of the HapMap project. HKR1 NA10839,NA12155,NA18942,NA18972,NA18975 nsv833819 19 42591341 42743439 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454691 S 95 1 0 LOC100507433,ZNF540,ZNF569,ZNF570,ZNF793 esv28496 19 42661319 42661904 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20574 S 451 0 1 ZNF570 NA12044 nsv2478 19 42717180 42735658 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7440 S 9 0 1 LOC100507433,ZNF540,ZNF793 NA12156 esv269267 19 42723261 42723346 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514861,essv2515427,essv2516319,essv2515602,essv2514291,essv2517773 M 157 6 0 Samples from several populations that are part of the HapMap project. ZNF793 NA12234,NA12249,NA12814,NA12815,NA12874,NA12878 esv272929 19 42723261 42723346 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581613 S 7 1 0 Samples from several populations that are part of the HapMap project. ZNF793 NA12878 esv270543 19 42749105 42749190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516394 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC100507433,ZNF540,ZNF571 NA12814 nsv833820 19 42882561 43105889 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454693,nssv1454695,nssv1454692,nssv1454694 M 95 0 4 LOC100631378,LOC644554,SIPA1L3,WDR87,ZNF573,ZNF607 esv1564972 19 42934088 42934154 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726895 S 2 0 1 ZNF573 HuRef esv2437108 19 42951075 42952603 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306518 S 1 0 1 ZNF573 NA18507 esv24668 19 43033392 43037198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17162,esv13068 M 451 0 5 LOC100631378 NA12044,NA12287,NA12749,NA12878,NA15510 esv274412 19 43041108 43041193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581295 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2610413 19 43142695 43144217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342051 S 1 0 1 SIPA1L3 NA18507 nsv911656 19 43196877 43231828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582276 S 6533 1 0 SIPA1L3 IS35895 esv1080341 19 43314298 43314298 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593339 S 2 1 0 SIPA1L3 HuRef nsv138463 19 43318659 43320603 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157041 M 24 SIPA1L3 nsv833821 19 43321777 43448632 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454696 S 95 0 1 DPF1,PPP1R14A,SIPA1L3,SPINT2 nsv911657 19 43347289 43445626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510339 S 6533 0 1 DPF1,PPP1R14A,SIPA1L3 SP54956 esv1195611 19 43424500 43425203 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853764 S 2 0 1 "" HuRef nsv833822 19 43452588 43636945 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454698,nssv1454697 M 95 0 2 C19orf33,CATSPERG,FAM98C,GGN,KCNK6,PSMD8,RASGRP4,RYR1,SPINT2,SPRED3,YIF1B nsv911658 19 43477158 43693980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543799 S 6533 0 1 C19orf33,CATSPERG,FAM98C,GGN,KCNK6,PSMD8,RASGRP4,RYR1,SPRED3,YIF1B MS16153 esv22727 19 43518328 43519814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21001 S 451 0 1 CATSPERG NA12239 nsv470140 19 43531979 43811334 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546504 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CATSPERG,EIF3K,FAM98C,GGN,MAP4K1,PSMD8,RASGRP4,RYR1,SPRED3 HGDP00599 nsv911659 19 43544197 43693980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573977 S 6533 0 1 CATSPERG,FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 IS33504 nsv911660 19 43544197 43752078 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566241 S 6533 1 0 CATSPERG,FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 IS30616 nsv833823 19 43547390 43727640 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454699 S 95 0 1 CATSPERG,FAM98C,GGN,PSMD8,RASGRP4,RYR1,SPRED3 dgv3857n71 19 43564175 43587649 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911662,nsv911661 M 6533 0 2 FAM98C,GGN,PSMD8,SPRED3 SP54956,SP54988 dgv3858n71 19 43591388 43793719 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911665,nsv911663 M 6533 0 2 FAM98C,MAP4K1,RASGRP4,RYR1 MS10311,MS17208 nsv833824 19 43606458 43776598 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454700 S 95 0 1 MAP4K1,RASGRP4,RYR1 nsv911664 19 43616654 43740003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552798 S 6533 0 1 RYR1 MS19630 nsv833826 19 43636946 43876387 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454702,nssv1454701 M 95 0 2 ACTN4,EIF3K,MAP4K1,RYR1 nsv911666 19 43640196 43706024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586078 S 6533 0 1 RYR1 IS37646 nsv2479 19 43657587 43692049 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2997 S 9 1 0 RYR1 NA18555 nsv833827 19 43684894 43876387 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454703 S 95 1 0 ACTN4,EIF3K,MAP4K1,RYR1 nsv138081 19 43723922 43723922 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156659 M 24 RYR1 nsv513526 19 43729137 43729284 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625940 S 1 1 0 RYR1 1 esv2452159 19 43736497 43737061 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313843 S 1 1 0 RYR1 NA18507 nsv513527 19 43736774 43737537 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625941 S 1 1 0 RYR1 1 esv1437952 19 43736814 43736814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697324 S 2 1 0 RYR1 HuRef nsv521114 19 43760481 43767232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693337,nssv682401 M 2026 0 2 RYR1 nsv833828 19 43776599 43949819 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454704 S 95 0 1 ACTN4,CAPN12,EIF3K,MAP4K1 nsv911667 19 43811738 43835129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504247 S 6533 1 0 ACTN4,EIF3K SP52338 esv22820 19 43830023 43832205 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18193 S 451 0 1 ACTN4 NA12239 nsv817834 19 43866172 43929790 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417698 S 112 1 0 ACTN4,CAPN12 NA18999 nsv911668 19 43866509 43983611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530972 S 6533 0 1 ACTN4,CAPN12,LGALS7,LGALS7B MS10311 nsv911669 19 43888585 43923388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510341 S 6533 0 1 ACTN4,CAPN12 SP54956 nsv7307 19 43913069 44013422 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5740,nssv2221,nssv10186,nssv6785,nssv9855,nssv10187,nssv9335,nssv5741,nssv2222,nssv10995,nssv6784,nssv4358,nssv1450 M 9 0 0 CAPN12,ECH1,LGALS4,LGALS7,LGALS7B NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv259599 19 43932576 43932901 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394111,essv2393894,essv2393853,essv2393730,essv2394023,essv2394389 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259983 19 43932661 43933075 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400019,essv2400331,essv2401149,essv2400901,essv2398890,essv2396040,essv2395798,essv2400559,essv2397600,essv2398076,essv2398658,essv2399607,essv2399165,essv2399739,essv2395645,essv2397687,essv2395008,essv2399313,essv2396112,essv2400955,essv2395519,essv2395071,essv2400415,essv2398972,essv2400162,essv2400077,essv2394693,essv2398205,essv2394420,essv2396175,essv2395860,essv2397498,essv2398150,essv2397729,essv2396982,essv2398303,essv2394811,essv2399788,essv2398055,essv2397240 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11881,NA11931,NA11993,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12489,NA12761,NA12776,NA12828,NA18501,NA18502,NA18511,NA18522,NA18523,NA18547,NA18563,NA18571,NA18592,NA18603,NA18608,NA18861,NA18870,NA18909,NA18943,NA18944,NA18945,NA18947,NA18949,NA18956,NA18973,NA19093,NA19114,NA19129,NA19147,NA19225 esv6321 19 43932707 43932775 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28762 S 1 1 0 "" SJK nsv911670 19 43942148 44013927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517296 S 6533 1 0 ECH1,LGALS4,LGALS7,LGALS7B SP57243 dgv3859n71 19 43944078 44009846 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911671,nsv911672 M 6533 0 2 ECH1,LGALS4,LGALS7,LGALS7B IS39233,MS19630 esv1006530 19 43950284 43975420 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565005 S 3 0 0 LGALS7,LGALS7B HuRef nsv9719 19 43952054 43954292 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26576 S 31 1 0 Samples from several populations that are part of the HapMap project. LGALS7 NA12155 dgv29n47 19 43956118 43972798 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499124,nsv499813 M 9 0 0 LGALS7B esv1571373 19 43956215 43971463 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026079 S 2 0 0 "" HuRef nsv175 19 43964751 44004122 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv175 S 1 0 0 ECH1,LGALS4,LGALS7B NA15510 nsv9720 19 43969171 43975216 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28496,nssv26590 M 31 2 0 Samples from several populations that are part of the HapMap project. LGALS7B NA12155,NA19221 nsv510475 19 43973001 43979001 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622286,nssv624205 M 4 0 2 LGALS7B NA10860,NA18994 nsv9721 19 43973697 43978968 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24408,nssv25356,nssv25373,nssv26604,nssv24036,nssv24358,nssv25146,nssv27568 M 31 0 8 Samples from several populations that are part of the HapMap project. LGALS7B NA07029,NA07048,NA10863,NA12155,NA18537,NA18564,NA18972,NA18980 nsv9722 19 43989913 43999413 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28497 S 31 1 0 Samples from several populations that are part of the HapMap project. ECH1,LGALS4 NA19221 nsv911673 19 44027114 44057241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511078 S 6533 0 1 HNRNPL,RINL SP54988 esv29388 19 44031526 44033072 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16518 S 451 0 1 HNRNPL NA12239 nsv911674 19 44083387 44090471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510342 S 6533 0 1 NFKBIB SP54956 esv2414967 19 44084833 44085265 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907300 S 1 0 1 NFKBIB NA18507 esv3793 19 44084936 44085158 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26234 S 1 0 1 Single Asian sample YH NFKBIB YH nsv911675 19 44086111 44090471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506973 S 6533 1 0 NFKBIB SP54442 nsv911676 19 44087494 44091117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506118 S 6533 0 1 NFKBIB SP54043 nsv911677 19 44087494 44096297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508978 S 6533 0 1 LOC643669,NFKBIB SP54672 nsv820174 19 44090292 44090588 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419814 S 2 1 0 NFKBIB AK1 nsv458570 19 44225594 44230432 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535482 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00455 nsv526711 19 44225594 44230432 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703050 S 2026 0 1 "" nsv458571 19 44225594 44319890 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535483 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PAK4,PAPL HGDP01348 nsv522530 19 44243990 44265758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705902 S 2026 0 1 "" nsv833829 19 44261521 44422617 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454706,nssv1454705 M 95 0 2 NCCRP1,PAK4,PAPL,SYCN nsv507895 19 44297165 44303165 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623260 S 4 1 0 "" NA18994 esv26259 19 44308383 44309122 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13804 S 451 0 1 PAK4 NA18505 esv2545161 19 44316242 44317640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187196 S 1 0 1 PAK4 NA18507 esv2008944 19 44316755 44317424 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876501 S 1 0 1 PAK4 NA18507 esv2369247 19 44329368 44329770 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930981 S 1 0 1 PAK4 NA18507 esv1255974 19 44379264 44379338 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011370 S 2 0 1 "" HuRef nsv518540 19 44389814 44423623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695984 S 2026 0 1 "" nsv833830 19 44401378 44529686 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454708,nssv1454707 M 95 0 2 GMFG,IL28A,IL28B,IL29,LRFN1,SAMD4B nsv911678 19 44402743 44455605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593167 S 6533 0 1 IL28A,IL28B IS39363 nsv911679 19 44426946 44615969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573978 S 6533 0 1 GMFG,IL28A,IL28B,IL29,LRFN1,MED29,MIR4530,PAF1,PLEKHG2,RPS16,SAMD4B,ZFP36 IS33504 nsv911680 19 44484300 44615969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590616 S 6533 0 1 GMFG,LRFN1,MED29,MIR4530,PAF1,PLEKHG2,RPS16,SAMD4B,ZFP36 IS38538 nsv911681 19 44489556 44548086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510343 S 6533 0 1 GMFG,LRFN1,SAMD4B SP54956 esv25791 19 44503410 44578052 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10629 S 451 1 0 GMFG,MED29,PAF1,SAMD4B NA12044 nsv2480 19 44519625 44554291 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1451 S 9 1 0 SAMD4B NA19240 dgv202n21 19 44536016 44541942 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520245,nsv526707 M 2026 0 2 SAMD4B dgv3860n71 19 44538972 44615969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911682,nsv911683 M 6533 0 2 MED29,MIR4530,PAF1,PLEKHG2,RPS16,SAMD4B,ZFP36 IS33455,IS34235 dgv3861n71 19 44578058 44615703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911688,nsv911684 M 6533 0 2 MED29,MIR4530,PLEKHG2,RPS16,ZFP36 SP54956,SP54988 nsv911685 19 44580289 44640619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553771 S 6533 0 1 MED29,MIR4530,PLEKHG2,RPS16,SUPT5H,ZFP36 MS20286 dgv3862n71 19 44583059 44601554 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911686,nsv911687 M 6533 0 2 MIR4530,PLEKHG2,ZFP36 SP54043,SP54725 dgv3863n71 19 44594928 44738703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911689,nsv911690 M 6533 0 3 DLL3,EID2,EID2B,PLEKHG2,RPS16,SELV,SUPT5H,TIMM50 MS19303,MS19808,MS20813 nsv523856 19 44605398 44689312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699691 S 2026 0 1 DLL3,PLEKHG2,RPS16,SUPT5H,TIMM50 dgv3864n71 19 44671806 44738703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911692,nsv911691,nsv911693 M 6533 0 8 DLL3,EID2,EID2B,SELV,TIMM50 IS32737,IS33504,IS34235,IS39233,IS40396,MS10698,MS18276,SP54956 nsv522811 19 44696480 44700060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698457 S 2026 0 1 SELV nsv911694 19 44707747 44723209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518189 S 6533 0 1 EID2,EID2B SP57469 nsv137930 19 44711329 44719696 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156508 M 24 EID2B esv34120 19 44736475 44823660 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LGALS13,LOC100129935 nsv2481 19 44764741 44797347 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1452 S 9 1 0 LGALS13 NA19240 esv1329854 19 44816545 44816627 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603846 S 2 0 1 "" HuRef nsv2482 19 44817637 44862606 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2223 S 9 0 1 LGALS16,LGALS17A,LOC100129935 NA18555 nsv817835 19 44824665 44853859 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417280 S 112 0 1 LGALS16,LOC100129935 NA18608 esv3998 19 44826960 44880486 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26439 S 1 0 1 Single Asian sample YH LGALS16,LGALS17A YH esv271109 19 44880140 44886210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494241 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv911695 19 44909634 44926848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512394 S 6533 0 1 CLC SP55469 nsv9723 19 44913308 44919554 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24434,nssv27534 M 31 0 2 Samples from several populations that are part of the HapMap project. CLC NA07048,NA18517 dgv1082e1 19 44919744 45212970 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14502,essv9077,esv410,essv11498,essv10861,essv16795 M 271 0 0 CLC,DYRK1B,FBL,FCGBP,LEUTX,PSMC4,ZNF546 NA18871,NA18872,NA19132,NA19173,NA19202 esv2546627 19 44977813 44978393 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274001 S 1 1 0 "" NA18507 nsv513528 19 44977903 44979250 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625942 S 1 1 0 "" 1 esv1202202 19 44978232 44978232 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783652 S 2 1 0 "" HuRef nsv911696 19 45002337 45036488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510346 S 6533 0 1 DYRK1B,FBL SP54956 nsv9725 19 45007359 45104363 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28498,nssv26929,nssv23834 M 31 2 1 Samples from several populations that are part of the HapMap project. DYRK1B,FBL,FCGBP NA18504,NA18942,NA19221 esv1008734 19 45029564 45030045 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586055 S 3 0 1 "" HuRef nsv2483 19 45032481 45127345 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1453,nssv2224,nssv6787,nssv10188,nssv4360,nssv10997,nssv5745 M 9 0 7 FCGBP NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv509742 19 45036196 45144858 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623760 S 4 1 0 FCGBP NA18994 nsv510766 19 45036196 45144858 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620120 S 4 0 1 FCGBP NA15510 nsv2484 19 45038831 45072938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5746,nssv2225,nssv6786,nssv9554,nssv4359,nssv10996 M 9 6 0 FCGBP NA12156,NA12878,NA15510,NA18507,NA18555,NA19129 nsv482218 19 45045803 45132373 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558579 S 1 1 0 FCGBP KB1 nsv176 19 45049019 45072938 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv176 S 1 1 0 FCGBP NA15510 esv21806 19 45054470 45103664 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19371,esv12245,esv11847 M 451 7 3 FCGBP NA07037,NA11993,NA12414,NA12489,NA12828,NA18502,NA19108,NA19114,NA19129,NA19147 esv1006063 19 45060672 45077177 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586150 S 3 1 0 FCGBP HuRef nsv436744 19 45061632 45067595 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465684 S 2 1 0 Samples from several populations that are part of the HapMap project. FCGBP NA18505 nsv471484 19 45065108 45096549 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548406,nssv548405,nssv547802 M 3 FCGBP nsv177 19 45065417 45081095 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv177 S 1 0 1 FCGBP NA15510 nsv442460 19 45066660 45073371 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FCGBP esv1010625 19 45077250 45077890 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586146 S 3 0 1 FCGBP HuRef esv990421 19 45077920 45092865 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586647 S 3 1 0 FCGBP HuRef nsv2485 19 45082323 45108201 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2227,nssv5747 M 9 2 0 FCGBP NA18555,NA19129 esv267757 19 45135593 45137118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516610 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv9726 19 45168293 45169888 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28499 S 31 1 0 Samples from several populations that are part of the HapMap project. PSMC4 NA19221 nsv2486 19 45225055 45250957 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9336 S 9 1 0 ZNF780B NA18517 nsv2488 19 45285658 45323246 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2228,nssv7441 M 9 0 2 ZNF780A NA12156,NA18555 nsv911697 19 45291443 45403173 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594564 S 6533 1 0 MAP3K10 IS39931 dgv1083e1 19 45304260 45531360 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv255,essv2674 M 271 0 0 AKT2,C19orf47,CNTD2,MAP3K10,MIR641,TTC9B NA18967 esv2425802 19 45304464 45308340 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334926 S 1 0 1 "" NA18507 esv2312735 19 45304738 45307808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712250 S 1 0 1 "" NA18507 nsv498901 19 45304929 45307616 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585762 S 9 0 1 "" esv8106 19 45304947 45307601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30547 S 1 0 1 "" SJK esv33840 19 45355279 45361177 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101424 S 51 1 0 "" 21805 nsv528831 19 45357764 45376759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705505 S 2026 0 1 "" dgv3865n71 19 45381420 45423211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911702,nsv911701,nsv911700,nsv911698 M 6533 0 4 CNTD2,MAP3K10,TTC9B SP51109,SP54956,SP55056,SP81003 nsv911699 19 45383472 45508370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547027 S 6533 0 1 AKT2,CNTD2,MAP3K10,MIR641,TTC9B MS17208 dgv3866n71 19 45403173 45423211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911704,nsv911703,nsv911705 M 6533 0 3 CNTD2,MAP3K10,TTC9B SP54043,SP54591,SP54988 nsv9727 19 45410153 45412566 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25566 S 31 1 0 Samples from several populations that are part of the HapMap project. MAP3K10 NA12740 nsv9728 19 45412566 45413827 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22060,nssv25201,nssv24460,nssv24063,nssv26940,nssv25398,nssv23861 M 31 0 7 Samples from several populations that are part of the HapMap project. MAP3K10,TTC9B NA07029,NA07048,NA12802,NA18504,NA18537,NA18564,NA18942 esv1037738 19 45446729 45446804 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080544 S 2 0 1 AKT2 HuRef esv1005660 19 45476578 45482675 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565085 S 3 0 1 AKT2,MIR641 HuRef nsv833831 19 45488580 45652705 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454710,nssv1454709 M 95 0 2 BLVRB,C19orf47,HIPK4,PLD3,PRX,SERTAD1,SERTAD3 dgv3867n71 19 45534369 45674215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911707,nsv911708,nsv911706 M 6533 0 3 BLVRB,C19orf47,HIPK4,PLD3,PRX,SERTAD1,SERTAD3,SPTBN4 IS34235,MS10311,MS18276 esv1638921 19 45575149 45575149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039232 S 2 1 0 PLD3 HuRef nsv911709 19 45620784 45752456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571306 S 6533 0 1 BLVRB,SERTAD1,SERTAD3,SPTBN4 IS32680 nsv819017 19 45638944 45639303 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418882 S 2 0 1 SERTAD3 AK1 dgv3868n71 19 45645902 45673038 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911713,nsv911712,nsv911710 M 6533 0 5 BLVRB,SPTBN4 SP51109,SP54043,SP54725,SP54988,SP55021 nsv911711 19 45645902 45676843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510348 S 6533 0 1 BLVRB,SPTBN4 SP54956 nsv138059 19 45697830 45697830 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156637 M 24 SPTBN4 dgv3869n71 19 45698266 45868243 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911719,nsv911720,nsv911722,nsv911715,nsv911714,nsv911717 M 6533 0 6 LTBP4,NUMBL,SHKBP1,SPTBN4 IS32322,IS33504,IS37646,IS39233,MS10311,MS17208 esv1007999 19 45706734 45720853 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563547 S 3 0 1 SPTBN4 HuRef dgv3870n71 19 45715351 45816771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911721,nsv911716 M 6533 0 2 LTBP4,SHKBP1,SPTBN4 MS10386,MS16153 nsv911718 19 45724949 45774708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510349 S 6533 0 1 SHKBP1,SPTBN4 SP54956 esv992020 19 45731517 45731981 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586783 S 3 0 1 SPTBN4 HuRef dgv3871n71 19 45767830 45902896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911728,nsv911727,nsv911723 M 6533 0 4 ADCK4,LTBP4,NUMBL,SHKBP1,SPTBN4 IS32841,IS39363,MS19630,MS20286 nsv911724 19 45781345 45857092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510350 S 6533 0 1 LTBP4,SHKBP1 SP54956 nsv911725 19 45782030 45805905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507828 S 6533 0 1 LTBP4,SHKBP1 SP54725 nsv911726 19 45782030 45833274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511082 S 6533 0 1 LTBP4,SHKBP1 SP54988 nsv2489 19 45836874 45874010 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6788 S 9 0 1 NUMBL NA12156 esv993784 19 45842818 45852266 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563923 S 3 0 1 "" HuRef nsv820299 19 45885104 45887834 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419471 S 2 0 1 NUMBL AK1 esv259622 19 45900466 45900719 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393664 S 6 0 0 Samples from several populations that are part of the HapMap project. ADCK4 NA19238 esv21537 19 45948391 45949064 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16940 S 451 0 1 SNRPA NA12239 nsv833832 19 45952203 46026437 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454720,nssv1454717,nssv1454719,nssv1454712,nssv1454726,nssv1454713,nssv1454711,nssv1454718,nssv1454716,nssv1454715,nssv1454722,nssv1454721,nssv1454725,nssv1454724,nssv1454723,nssv1454728,nssv1454727,nssv1454714 M 95 0 18 EGLN2,MIA,MIA-RAB4B,RAB4B,RAB4B-EGLN2,SNRPA esv26234 19 45974903 45977103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13500 S 451 0 1 MIA,MIA-RAB4B,RAB4B,RAB4B-EGLN2 NA12239 dgv1084e1 19 45983467 46237908 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv833,essv2976,esv832,essv497 M 271 0 0 CYP2A6,CYP2A7,CYP2B6,CYP2B7P1,CYP2G1P,EGLN2,MIA-RAB4B,RAB4B,RAB4B-EGLN2 NA18952,NA18973,NA18981 nsv521459 19 46005042 46025124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698069 S 2026 0 1 EGLN2,RAB4B-EGLN2 dgv3872n71 19 46013212 46084725 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911729,nsv911734 M 6533 2 0 CYP2A6,CYP2A7 MS17785,SP52332 nsv817836 19 46025124 46055605 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416690,nssv1416692,nssv1416691 M 112 1 2 CYP2A6 NA19116,NA19119,NA19120 esv21610 19 46029141 46085096 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14395 S 451 3 1 CYP2A6,CYP2A7 NA06985,NA15510,NA18861,NA19129 nsv9729 19 46029645 46086247 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25589,nssv25423,nssv25152,nssv24321,nssv23888,nssv27576 M 31 0 6 Samples from several populations that are part of the HapMap project. CYP2A6,CYP2A7 NA12740,NA18537,NA18942,NA18972,NA18975,NA19007 dgv3873n71 19 46029763 46048591 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911731,nsv911736,nsv911730,nsv911735 M 6533 0 26 CYP2A6 IS39343,IS39530,MS10204,MS11273,MS12398,MS13211,MS13293,MS14209,MS16137,MS16934,MS17014,MS20718,MS23889,MS24533,MS25412,MS25745,SP52161,SP52724,SP55108,SP55699,SP56084,SP57174,SP57700,SP58480,SP81273,SP81560 dgv3874n71 19 46029763 46064315 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911737,nsv911732 M 6533 4 0 CYP2A6 IS33575,MS17572,MS24785,SP55022 dgv3875n71 19 46029763 46075668 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911733,nsv911738,nsv911740 M 6533 4 0 CYP2A6,CYP2A7 IS41098,MS13758,SP52039,SP81036 nsv2490 19 46031887 46065109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5748,nssv2229 M 9 2 0 CYP2A6 NA18555,NA19129 esv33053 19 46032469 46092475 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101494,essv97571,essv101204,essv93820,essv96855,essv95083,essv94671,essv93994,essv101338,essv94363,essv97838,essv95452,essv95237,essv97296,essv101745,essv95890,essv94612,essv92989,essv92700,essv96099,essv96638,essv95977,essv93467,essv99650,essv94929,essv92661,essv96495,essv99179,essv97748,essv100204,essv100548,essv100439,essv96407 M 51 33 0 CYP2A6,CYP2A7,CYP2G1P 21603,21616,21618,21634,21659,21721,21791,21802,21805,21808,21837,21847,21872,21879,21909,21911,21932,21939,21944,22007,22011,22127,22128,22217,22231,22233,22261,22275,22278,22286,22298,22300,22371 nsv516972 19 46033429 46055605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655328,nssv657164,nssv653537,nssv666017,nssv678007,nssv692296,nssv667216,nssv676054,nssv665443,nssv691250,nssv681908,nssv661715,nssv691260,nssv691625,nssv687048,nssv664482,nssv655859,nssv675964,nssv657342,nssv671263,nssv655281,nssv693208,nssv676778,nssv665098,nssv656230 M 2026 0 25 CYP2A6 nsv911739 19 46033429 46075668 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566054,nssv1540170,nssv1585486,nssv1532923,nssv1571133,nssv1549150,nssv1554125,nssv1560810 M 6533 7 1 CYP2A6,CYP2A7 IS30564,IS32607,IS37471,MS10942,MS14719,MS18108,MS20618,MS24714 nsv482219 19 46041283 46048192 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558580 S 1 1 0 CYP2A6 KB1 nsv911741 19 46041614 46048591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504664 S 6533 0 1 CYP2A6 SP52700 dgv3876n71 19 46041614 46077876 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911757,nsv911748,nsv911751,nsv911754,nsv911743,nsv911742,nsv911756,nsv911746,nsv911750,nsv911759 M 6533 0 37 CYP2A6,CYP2A7 IS35968,SP50098,SP50521,SP50585,SP50631,SP50857,SP50876,SP50896,SP50940,SP50997,SP51030,SP51031,SP51049,SP51058,SP51158,SP51167,SP51422,SP51493,SP52060,SP52122,SP52161,SP52835,SP54442,SP54461,SP54607,SP54722,SP54726,SP54782,SP55660,SP55699,SP55747,SP55774,SP56005,SP56084,SP56260,SP57401,SP57410 nsv442765 19 46042834 46072786 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CYP2A6 nsv433318 19 46043107 46056935 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463199 S 9 0 1 CYP2A6 NA15510 nsv911744 19 46043107 46064315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569999,nssv1596913 M 6533 2 0 CYP2A6 IS31763,IS40665 dgv3877n71 19 46043107 46075668 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv911758,nsv911745,nsv911749,nsv911753 M 6533 8 74 CYP2A6,CYP2A7 IS30243,IS31849,IS32864,IS33531,IS33552,IS33705,IS33776,IS34262,IS34264,IS34742,IS35566,IS37194,IS38193,IS38264,IS39417,IS39817,IS40716,IS40990,IS41034,IS41657,IS41894,MS11669,MS12630,MS13330,MS15036,MS16821,MS18453,MS19503,MS19529,MS21216,MS22611,MS24662,SP50059,SP50084,SP50102,SP50116,SP50137,SP50523,SP50593,SP50691,SP50859,SP50925,SP50954,SP50973,SP50996,SP51022,SP51056,SP51112,SP51292,SP51427,SP51486,SP51489,SP52003,SP52299,SP54408,SP54429,SP54587,SP54635,SP54663,SP55106,SP55401,SP55426,SP55463,SP55565,SP55610,SP55683,SP56085,SP56207,SP56234,SP56294,SP56780,SP57270,SP57273,SP57328,SP57379,SP57418,SP57481,SP57779,SP58205,SP58305,SP58548,SP81361 nsv911747 19 46044103 46064315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515459 S 6533 0 1 CYP2A6 SP56200 dgv3878n71 19 46044103 46084725 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911752,nsv911755 M 6533 0 2 CYP2A6,CYP2A7 IS36248,IS38840 nsv436743 19 46044607 46047017 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465685 S 2 1 0 Samples from several populations that are part of the HapMap project. CYP2A6 NA18505 nsv435697 19 46046162 46079968 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465686 S 2 0 1 CYP2A6,CYP2A7 NA15510 nsv438302 19 46046373 46065873 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470746,nssv470747 M 269 0 2 Samples from several populations that are part of the HapMap project. CYP2A6 NA18952,NA18973 dgv588n67 19 46046659 46065626 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828549,nsv828548,nsv828547,nsv828546 M 31 0 5 CYP2A6 AK20,NA18537,NA18942,NA18972,NA18999 dgv407n27 19 46048591 46055605 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458572,nsv458577,nsv458580,nsv458581,nsv458573,nsv458575,nsv458576,nsv458579,nsv458578 M 1557 0 9 "" HGDP00328,HGDP00656,HGDP00664,HGDP00722,HGDP00752,HGDP00758,HGDP01205,HGDP01211,NINDS_131 nsv817837 19 46048591 46055605 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417596,nssv1416014,nssv1417364,nssv1417486,nssv1417622,nssv1417111,nssv1417418,nssv1416013,nssv1418237 M 112 1 8 "" NA06985,NA12740,NA12750,NA18537,NA18944,NA18952,NA18965,NA18978,NA18987 nsv828550 19 46053147 46063560 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422284 S 31 0 1 "" NA18997 nsv911760 19 46054013 46075639 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513381,nssv1509183,nssv1512711,nssv1514599,nssv1513159,nssv1507973,nssv1515130,nssv1507727,nssv1516198,nssv1503952,nssv1507280 M 6533 7 4 CYP2A7 SP52137,SP54516,SP54604,SP54725,SP54760,SP55596,SP55692,SP55748,SP56023,SP56125,SP56518 nsv511622 19 46070988 46074981 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626253 S 1 0 1 CYP2A7 1 esv1005181 19 46074425 46079103 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587133 S 3 1 0 CYP2A7 HuRef esv1001236 19 46078508 46078558 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584976 S 3 0 1 CYP2A7 HuRef dgv55n17 19 46100586 46215927 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437830,nsv437831 M 60 0 2 CYP2B6,CYP2B7P1 NA18506,NA18872 nsv523686 19 46123775 46200282 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699492 S 2026 1 0 CYP2B6,CYP2B7P1 dgv1085e1 19 46123775 46220507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13391,essv8029,essv16184 M 271 0 0 CYP2B6,CYP2B7P1 NA18506,NA18871,NA18872 nsv517597 19 46125453 46200282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665150,nssv658691,nssv683381,nssv686715,nssv679727,nssv653026,nssv652468 M 2026 0 7 CYP2B6,CYP2B7P1 nsv509743 19 46129206 46246920 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621076 S 4 1 0 CYP2B6,CYP2B7P1 NA15510 dgv3879n71 19 46134005 46207542 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911765,nsv911763,nsv911762,nsv911766,nsv911761 M 6533 16 0 CYP2B6,CYP2B7P1 IS35028,MS11730,MS15218,MS15269,MS15835,MS17611,MS19502,MS21528,MS23878,MS25239,MS25890,SP51165,SP52694,SP52713,SP55463,SP58306 esv2597443 19 46137955 46206463 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248293 S 1 0 1 CYP2B6,CYP2B7P1 NA18507 nsv911764 19 46140574 46174582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506201 S 6533 1 0 CYP2B7P1 SP54058 nsv433319 19 46140574 46201870 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463200 S 9 0 1 Samples from several populations that are part of the HapMap project. CYP2B6,CYP2B7P1 NA18507 nsv470141 19 46141443 46200281 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546506,nssv546505,nssv546507 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP2B6,CYP2B7P1 HGDP00927,HGDP00941,HGDP00943 dgv408n27 19 46141443 46200282 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458582,nsv458583,nsv458584 M 1557 0 3 CYP2B6,CYP2B7P1 HGDP00927,HGDP00941,HGDP00943 nsv442461 19 46143504 46205185 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CYP2B6,CYP2B7P1 esv2573378 19 46157599 46157905 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267636 S 1 0 1 "" NA18507 nsv470142 19 46174582 46215993 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546508 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP2B6 HGDP00905 esv24009 19 46187254 46217777 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11642 S 451 1 0 CYP2B6 NA19190 nsv2491 19 46252788 46296062 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7443 S 9 0 1 CYP2A13 NA12156 nsv2492 19 46294299 46328940 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5749,nssv2998 M 9 2 0 CYP2F1 NA18555,NA19129 nsv512582 19 46300427 46303343 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625192 S 1 0 1 "" 1 esv1634257 19 46300998 46301178 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219015 S 2 0 1 "" HuRef esv28334 19 46318543 46320463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15484 S 451 0 1 CYP2F1 NA18517 nsv911767 19 46341356 46408111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554981 S 6533 0 1 CYP2S1 MS21124 esv29233 19 46371661 46372959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11798,esv15817 M 451 4 0 "" NA12044,NA12239,NA12489,NA19225 nsv821187 19 46372097 46372837 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420055 S 1 0 1 "" NA10851 nsv523521 19 46372264 46394266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699294 S 2026 0 1 CYP2S1 nsv911768 19 46372264 46440593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586080 S 6533 0 1 AXL,CYP2S1 IS37646 esv24440 19 46383741 46389308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17033 S 451 0 1 "" NA19114 esv995062 19 46437072 46440438 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586890 S 3 0 1 AXL HuRef nsv819422 19 46437244 46439870 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419457 S 2 0 1 AXL AK1 esv26941 19 46462068 46507122 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17637 S 451 1 0 HNRNPUL1 NA12044 nsv911769 19 46505516 46537641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510351 S 6533 0 1 CCDC97,HNRNPUL1,TGFB1 SP54956 nsv521311 19 46548726 46574552 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697919 S 2026 1 0 B9D2,TGFB1,TMEM91 esv1542493 19 46559541 46559833 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921631 S 2 0 1 B9D2 HuRef esv2587471 19 46571017 46571760 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301511 S 1 1 0 TMEM91 NA18507 esv996035 19 46573285 46579389 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563826 S 3 0 1 TMEM91 HuRef nsv828551 19 46595016 46595496 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440748 S 31 1 0 EXOSC5 NA18564 nsv519523 19 46645768 46693050 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671711,nssv659196,nssv656673 M 2026 0 3 LOC100505495 dgv3880n71 19 46645768 46777713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911770,nsv911771 M 6533 0 3 CEACAM21,LOC100505495 IS31228,IS35788,IS35862 nsv510767 19 46650121 46741005 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622752 S 4 0 1 LOC100505495 NA18994 nsv442462 19 46668500 46699711 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100505495 esv25601 19 46673961 46698990 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17598 S 451 0 1 LOC100505495 NA18861 nsv817838 19 46675662 46693050 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418521,nssv1418522 M 112 0 2 LOC100505495 NA19193,NA19194 nsv521657 19 46675968 46711952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694470 S 2026 0 1 LOC100505495 dgv3881n71 19 46677464 46777713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911772,nsv911773 M 6533 0 3 CEACAM21,LOC100505495 IS30976,IS41634,MS13095 nsv523947 19 46711027 46711952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699794 S 2026 0 1 "" nsv2493 19 46726211 46741937 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9555 S 9 1 0 "" NA18507 nsv442463 19 46751686 46754143 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv519408 19 46758119 46863746 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696837 S 2026 1 0 CEACAM21,CEACAM4 esv29494 19 46808987 46810992 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11752 S 451 0 1 "" NA18909 nsv2494 19 46811009 46844303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5750 S 9 1 0 CEACAM4 NA19129 nsv522854 19 46812123 47622844 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698508 S 2026 1 0 ARHGEF1,ATP1A3,CD79A,CEACAM3,CEACAM4,CEACAM5,CEACAM6,CEACAM7,CIC,CNFN,DEDD2,DMRTC2,ERF,GRIK5,GSK3A,LIPE,LOC100505622,LYPD4,MEGF8,MIR4323,PAFAH1B3,POU2F2,PRR19,RABAC1,RPS19,TMEM145,ZNF526,ZNF574 esv2260460 19 46820924 46821280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596478 S 1 0 1 CEACAM4 NA18507 esv1010283 19 46839703 46844127 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565107 S 3 1 0 "" HuRef nsv507896 19 46841674 46847674 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623261,nssv619220 M 4 2 0 "" NA10860,NA18994 esv29931 19 46878332 46883547 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12262 S 451 1 0 CEACAM7 NA18861 nsv442464 19 46879180 46883135 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CEACAM7 esv24728 19 46895676 46896671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18342 S 451 0 1 "" NA19257 nsv482220 19 46904370 46926276 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558581 S 1 1 0 CEACAM5 KB1 nsv911774 19 46942165 46980661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499513 S 6533 0 1 CEACAM6 SP50144 nsv911775 19 46951068 46980661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511949 S 6533 1 0 CEACAM6 SP55195 nsv2495 19 46954051 46985680 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1454 S 9 1 0 CEACAM6 NA19240 esv2568775 19 46998981 47000503 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161985 S 1 0 1 CEACAM3 NA18507 dgv3882n71 19 47035366 47169150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911776,nsv911778 M 6533 0 2 ARHGEF1,ATP1A3,CD79A,DMRTC2,LYPD4,RABAC1,RPS19 IS33504,SP54956 dgv3883n71 19 47049295 47234839 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911780,nsv911777,nsv911781 M 6533 0 3 ARHGEF1,ATP1A3,CD79A,GRIK5,RABAC1,RPS19 MS10698,MS17208,MS18276 nsv520239 19 47049295 47622844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693635,nssv662078 M 2026 0 2 ARHGEF1,ATP1A3,CD79A,CIC,CNFN,DEDD2,ERF,GRIK5,GSK3A,LIPE,LOC100505622,MEGF8,MIR4323,PAFAH1B3,POU2F2,PRR19,RABAC1,RPS19,TMEM145,ZNF526,ZNF574 nsv911779 19 47090290 47137681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511083 S 6533 0 1 ARHGEF1 SP54988 esv2399724 19 47090558 47091102 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937817 S 1 0 1 ARHGEF1 NA18507 esv22227 19 47092182 47093217 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14978 S 451 0 6 ARHGEF1 NA18909,NA19099,NA19108,NA19147,NA19240,NA19257 nsv820680 19 47092182 47093217 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420056 S 1 0 1 ARHGEF1 NA10851 esv2227579 19 47092521 47092909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574581 S 1 0 1 ARHGEF1 NA18507 esv1980650 19 47110422 47110939 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4925728 S 1 0 1 "" NA18507 esv7914 19 47110563 47110844 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30355 S 1 0 1 "" SJK esv2114792 19 47110606 47111039 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582227 S 1 0 1 "" NA18507 nsv138436 19 47138086 47141859 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157014 M 24 "" esv992854 19 47170818 47186982 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564076 S 3 0 0 ATP1A3 HuRef nsv911782 19 47181356 47622844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586081 S 6533 0 1 ATP1A3,CIC,CNFN,DEDD2,ERF,GRIK5,GSK3A,LIPE,LOC100505622,MEGF8,MIR4323,PAFAH1B3,POU2F2,PRR19,TMEM145,ZNF526,ZNF574 IS37646 nsv138051 19 47186335 47186478 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156629 M 24 ATP1A3 esv24829 19 47239709 47245814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10559 S 451 0 1 GRIK5 NA12006 nsv819928 19 47266462 47266787 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418682 S 2 0 1 "" AK1 nsv911783 19 47267302 47316502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510353 S 6533 0 1 POU2F2,ZNF574 SP54956 esv25421 19 47271839 47274154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12493 S 451 0 1 ZNF574 NA12239 nsv2496 19 47326702 47361596 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4362 S 9 1 0 LOC100505622,MIR4323,POU2F2 NA12878 nsv820069 19 47346269 47349315 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419501 S 2 1 0 "" AK1 nsv833833 19 47349116 47474962 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454729 S 95 0 1 DEDD2,ERF,GSK3A,ZNF526 nsv526186 19 47368321 47895347 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702448 S 2026 1 0 CEACAM1,CEACAM8,CIC,CNFN,CXCL17,DEDD2,ERF,GSK3A,LIPE,MEGF8,PAFAH1B3,PRR19,TMEM145,ZNF526 esv275463 19 47380837 47392356 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585632 S 1250 0 1 "" esv2422471 19 47424981 48361325 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161412 S 181 0 1 CEACAM1,CEACAM8,CIC,CNFN,CXCL17,ERF,GSK3A,LIPE,LOC100289650,MEGF8,PAFAH1B3,PRR19,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG6,PSG7,PSG8,TMEM145 ND04178 nsv833834 19 47428284 47526867 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454730 S 95 0 1 CIC,ERF,GSK3A,MEGF8,PAFAH1B3,PRR19,TMEM145 dgv3884n71 19 47432964 47489799 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911786,nsv911784 M 6533 0 2 CIC,ERF,GSK3A SP51109,SP54988 nsv911785 19 47432964 47609385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510354 S 6533 0 1 CIC,CNFN,ERF,GSK3A,LIPE,MEGF8,PAFAH1B3,PRR19,TMEM145 SP54956 nsv828552 19 47456176 47466006 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435559 S 31 0 1 "" NA18942 esv25659 19 47464296 47465248 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17956 S 451 0 1 "" NA12239 nsv911787 19 47465702 47487394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511602 S 6533 0 1 CIC SP55021 esv28255 19 47478751 47481362 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11470 S 451 1 0 CIC NA12044 esv994842 19 47505744 47506272 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586972 S 3 1 0 PRR19 HuRef nsv911788 19 47579332 47622492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517784 S 6533 1 0 CNFN,LIPE SP57367 dgv3885n71 19 47593270 47599914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911790,nsv911789 M 6533 0 3 LIPE SP51058,SP51307,SP54672 nsv911791 19 47593270 47601318 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503583 S 6533 1 0 LIPE SP52077 dgv3886n71 19 47593270 47624539 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911792,nsv911798,nsv911793,nsv911795,nsv911794,nsv911799,nsv911800 M 6533 15 0 CXCL17,LIPE SP50179,SP51486,SP53687,SP54381,SP54442,SP54448,SP54579,SP54614,SP54620,SP54650,SP54792,SP55878,SP56143,SP56260,SP56267 dgv3887n71 19 47596228 47598754 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911796,nsv911797 M 6533 0 2 LIPE SP55469,SP58373 dgv3888n71 19 47602256 47621342 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911802,nsv911801 M 6533 2 0 LIPE SP54585,SP54635 dgv3889n71 19 47608681 47620237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911806,nsv911803,nsv911805 M 6533 0 3 LIPE SP56846,SP57027,SP80957 nsv911804 19 47608681 47624539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519446 S 6533 0 1 CXCL17,LIPE SP81036 nsv911807 19 47612395 47621094 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512951 S 6533 1 0 LIPE SP55655 nsv911808 19 47617476 47622492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507084 S 6533 1 0 LIPE SP54468 dgv15e196 19 47683129 48361325 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422468,esv2422227 M 181 0 2 CEACAM1,CEACAM8,LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG6,PSG7,PSG8 ND00940,ND01548 esv28684 19 47727125 47729754 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11884 S 451 0 3 "" NA18505,NA19099,NA19190 dgv1086e1 19 47734587 48127284 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4604,essv7112 M 271 0 0 CEACAM8,LOC100289650,PSG1,PSG10P,PSG3,PSG6,PSG7,PSG8 NA18524,NA18537 dgv1087e1 19 47734587 48590893 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21266,essv9246,essv17017,essv6883,esv817,essv17754,essv21386,essv775 M 271 0 0 CD177,CEACAM8,LOC100289650,LOC284344,PRG1,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9,TEX101 NA10831,NA10855,NA12740,NA18605,NA18956,NA19128,NA19144 nsv482221 19 47776235 47790922 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558582 S 1 1 0 CEACAM8 KB1 esv32716 19 47846315 47846476 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97130 S 51 1 0 "" 22075 dgv1088e1 19 47856258 48314448 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5831,essv3442,essv21587,essv15921,essv595,essv3589 M 271 0 0 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG6,PSG7,PSG8 NA12146,NA18524,NA18947,NA18956,NA18969,NA19205 esv2613541 19 47858477 47860204 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393312 S 1 0 1 "" NA18507 esv992726 19 47858515 47859881 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565573 S 3 0 1 "" HuRef esv2369981 19 47859076 47859889 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841745 S 1 0 1 "" NA18507 esv1268933 19 47859275 47859723 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945985 S 2 0 1 "" HuRef dgv140e55 19 47889875 48497200 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751790,esv34426,esv34541,esv34661,esv2751786 M 771 5 0 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9 BEC_298,BEC_402,NA18537,NA18605,NA19203 nsv516973 19 47894610 48558663 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667844,nssv684645,nssv652396,nssv658577,nssv683893,nssv665778,nssv674492,nssv676532,nssv653538,nssv676485,nssv655402,nssv657773,nssv687243,nssv696061,nssv662469,nssv684051,nssv686088,nssv680266,nssv686397,nssv665360,nssv660561,nssv679381,nssv656334,nssv679997,nssv687193,nssv688337,nssv692731,nssv682436,nssv652469,nssv679588,nssv689671,nssv662323,nssv661745,nssv655906,nssv660409,nssv705054,nssv689264,nssv665996,nssv688576,nssv695103,nssv688703,nssv670753,nssv655282,nssv662201,nssv687974,nssv669686,nssv660076,nssv662601,nssv667123,nssv651730,nssv657886,nssv662964,nssv686928,nssv651743,nssv681120,nssv683781,nssv662683,nssv680240,nssv671321,nssv672419,nssv668205,nssv679427,nssv691695,nssv673826,nssv673871,nssv683281,nssv660785,nssv672213,nssv689731,nssv676988,nssv673399,nssv676379,nssv681716,nssv690851,nssv665269,nssv656652,nssv684572,nssv689870,nssv693285,nssv668451,nssv686136,nssv672624,nssv678711,nssv690072,nssv664708,nssv667444,nssv685926,nssv692849,nssv678620,nssv681281,nssv689337,nssv658283,nssv669773,nssv679198,nssv678346,nssv673618,nssv668921,nssv684356,nssv652838,nssv681119,nssv662763,nssv691670,nssv666874,nssv654498,nssv688485,nssv688767,nssv663889,nssv666193,nssv688159,nssv663302,nssv657184,nssv690042,nssv675987,nssv662643,nssv680394,nssv667770,nssv667897,nssv661942,nssv657045,nssv683859,nssv670837,nssv669886,nssv687960,nssv690604,nssv684315,nssv663441,nssv658914,nssv686262,nssv653337,nssv671544,nssv665748,nssv684619,nssv692079,nssv653257,nssv666625,nssv680911,nssv681253,nssv699170,nssv675467,nssv691308,nssv667174,nssv656634,nssv658576,nssv673183,nssv666495,nssv655504,nssv667466,nssv687262,nssv683647,nssv692672,nssv676324,nssv672590,nssv657917,nssv692468,nssv685441,nssv686929,nssv686355,nssv653000,nssv653780,nssv665728,nssv678866,nssv655881,nssv653027,nssv682175,nssv652216,nssv674458,nssv686447,nssv663262,nssv679921,nssv654589,nssv675637,nssv692147,nssv689265,nssv689507,nssv684401,nssv674589,nssv675110,nssv698971,nssv672225,nssv672376,nssv659035,nssv659577,nssv664284,nssv654038,nssv653171,nssv687813,nssv659610,nssv665065,nssv671150,nssv679337,nssv680512,nssv658621,nssv655993,nssv662491,nssv652174,nssv663397,nssv701750,nssv681193,nssv669431,nssv657763,nssv684802,nssv691939,nssv692207,nssv660196,nssv656458,nssv659746,nssv668206,nssv657239,nssv692610,nssv662927,nssv681305,nssv663361,nssv693102,nssv663242,nssv681626,nssv677092,nssv681393,nssv665519,nssv684024,nssv657718,nssv692873,nssv659632,nssv666457,nssv658170,nssv690345 M 2026 28 197 CD177,LOC100289650,LOC284344,PRG1,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9 nsv9730 19 47895299 48494496 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26961,nssv26951,nssv22120,nssv28500,nssv26630,nssv25501,nssv27558,nssv26617,nssv25524,nssv25635,nssv25547,nssv27542,nssv25612,nssv25381,nssv27550,nssv25478,nssv26231,nssv25207 M 31 7 3 Samples from several populations that are part of the HapMap project. LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9 NA12155,NA12740,NA12802,NA18504,NA18517,NA18537,NA18980,NA19007,NA19144,NA19221 nsv510768 19 47909197 47991203 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618964 S 4 0 1 PSG3,PSG8 NA10860 nsv833835 19 47912047 48115213 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454731,nssv1454732,nssv1454733 M 95 3 0 LOC100289650,PSG1,PSG10P,PSG3,PSG6,PSG8 nsv428364 19 47912047 48127284 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453710,nssv453711 M 62 1 1 LOC100289650,PSG1,PSG10P,PSG3,PSG6,PSG7,PSG8 HGDP00984,NA18498 nsv482222 19 47917635 47936508 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558583 S 1 1 0 PSG3 KB1 nsv911809 19 47924888 48066441 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547549 S 6533 1 0 LOC100289650,PSG1,PSG10P,PSG3,PSG8 MS17438 dgv3890n71 19 47924888 48321413 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911810,nsv911813,nsv911855 M 6533 3 0 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG6,PSG7,PSG8 IS39243,MS13129,MS19303 dgv1089e1 19 47929604 48485993 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4934,essv14841,essv7950,essv5676,essv20831,essv18469 M 271 0 0 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9 NA10855,NA11832,NA18537,NA18605,NA19119,NA19203 dgv141e55 19 47932219 48422999 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751788,esv2751791,esv2751793,esv2751787,esv2751789 M 771 0 5 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG3,PSG4,PSG5,PSG6,PSG7,PSG8 BEC_446,BEC_739,BEC_98,SPC_186,SPC_7 dgv3891n71 19 47939188 48498399 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911954,nsv911811,nsv911857,nsv911842 M 6533 4 0 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG8,PSG9 IS34530,IS35165,IS39745,MS23648 dgv3892n71 19 47948855 48066441 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911815,nsv911812,nsv911814 M 6533 6 0 LOC100289650,PSG1,PSG10P,PSG8 IS40730,IS40966,MS11333,MS12202,MS21214,MS21515 nsv471408 19 47950225 47961671 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548195,nssv548194,nssv548193 M 3 PSG8 nsv482038 19 47950225 47961671 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558399 S 1 1 0 PSG8 KB1 esv33217 19 47952718 48237089 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100976,essv96730 M 51 0 2 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7,PSG8 21693,22011 dgv1090e1 19 47957445 48127284 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13717,essv9909 M 271 0 0 LOC100289650,PSG1,PSG10P,PSG6,PSG7,PSG8 NA19119,NA19145 nsv828554 19 47960658 48340565 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440050 S 31 1 0 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7,PSG8 NA18537 dgv3893n71 19 47963831 48133891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911821,nsv911816,nsv911844,nsv911822 M 6533 0 6 LOC100289650,PSG1,PSG10P,PSG6,PSG7 IS40775,MS12932,SP50679,SP54118,SP54665,SP57574 dgv3894n71 19 47963831 48235556 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911852,nsv911817 M 6533 2 0 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 IS38119,IS38391 dgv3895n71 19 47963831 48321413 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911830,nsv911838,nsv911834,nsv911832,nsv911854,nsv911833,nsv911853,nsv911818,nsv911835,nsv911831,nsv911836,nsv911837,nsv911840 M 6533 0 53 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 IS30228,IS30295,IS30435,IS30467,IS32719,IS33887,IS34353,IS38144,IS38446,IS38494,IS38554,IS39322,MS10296,MS10731,MS10797,MS11204,MS11271,MS12509,MS13957,MS14216,MS14416,MS14637,MS14851,MS15092,MS15175,MS15199,MS16211,MS16635,MS16797,MS17817,MS20196,MS21194,MS21258,MS21528,MS22279,MS22619,MS24193,MS24987,SP50043,SP50126,SP52858,SP53344,SP54913,SP55586,SP56004,SP56750,SP56757,SP57205,SP57243,SP57250,SP57404,SP58404,SP80969 nsv2497 19 47970563 48243144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6790,nssv10190 M 9 0 2 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 NA12156,NA18956 nsv470143 19 47975959 48387679 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546514,nssv546522,nssv546515,nssv546521,nssv546511,nssv546516,nssv546518,nssv546517,nssv546519,nssv546510,nssv546512,nssv546513 M 443 12 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG5,PSG6,PSG7 HGDP00631,HGDP00676,HGDP00696,HGDP00721,HGDP00892,HGDP00923,HGDP00984,HGDP01029,HGDP01033,HGDP01271,HGDP01274,HGDP01386 dgv409n27 19 47975960 48285261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458587,nsv458586,nsv458593 M 1557 0 3 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 HGDP00388,HGDP01104,NINDS_84 dgv410n27 19 47975960 48321413 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458592,nsv458589,nsv458588,nsv458626,nsv458625 M 1557 5 0 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 1780862057_A,1780862334_A,1780862408_A,HGDP01329,NINDS_247 dgv411n27 19 47975960 48484147 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458591,nsv458590 M 1557 0 2 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9 HGDP01232,HGDP01336 dgv142e55 19 47979077 48230800 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34210,esv34849,esv2751792 M 771 0 3 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 BEC_468,NA18524,NA18969 nsv911819 19 47982103 48052544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517647,nssv1514762 M 6533 0 2 LOC100289650,PSG10P SP56064,SP57336 nsv911820 19 47982103 48107283 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556960,nssv1583174,nssv1572518,nssv1525605,nssv1525315,nssv1541660,nssv1537239,nssv1529266,nssv1598698,nssv1578524,nssv1563205,nssv1550679,nssv1571297,nssv1564781,nssv1536886 M 6533 1 14 LOC100289650,PSG1,PSG10P,PSG6 IS30297,IS32679,IS33115,IS34803,IS36312,IS40831,MS13002,MS13131,MS15410,MS18537,MS22297,MS25901,SP56410,SP56728,SP81495 dgv3896n71 19 47982103 48205107 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911828,nsv911827,nsv911845,nsv911850,nsv911825,nsv911824,nsv911823 M 6533 0 18 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 IS30201,IS30300,IS30423,IS34429,IS34804,IS35014,IS35763,IS38292,IS40157,IS40874,MS13205,MS18682,MS18929,MS23423,MS25447,SP55642,SP56390,SP81408 dgv3897n71 19 47982103 48213514 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv911829,nsv911847,nsv911851,nsv911846,nsv911826,nsv911848 M 6533 9 18 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 IS30270,IS31757,IS35294,IS35581,IS37968,IS39992,IS41979,MS12039,MS13441,MS14984,MS15905,MS16949,MS17609,MS20302,MS21294,MS21738,MS22322,MS22754,MS23714,MS24508,MS25087,MS25805,SP50756,SP51102,SP53451,SP56387,SP58377 nsv911839 19 47982103 48312997 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566191,nssv1579133 M 6533 1 1 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 IS30597,IS35018 dgv3898n71 19 47982103 48454167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911889,nsv911953,nsv911966,nsv911841,nsv911856,nsv911890,nsv911924 M 6533 0 10 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9 IS36465,IS38030,IS38281,IS39393,IS41724,MS14971,MS23142,MS24868,SP53323,SP54362 dgv589n67 19 47986094 48256180 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828556,nsv828555 M 31 0 2 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 NA18947,NA18969 nsv442766 19 47986230 48149894 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100289650,PSG1,PSG10P,PSG6,PSG7 dgv1091e1 19 47997284 48296563 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1664,essv11331 M 271 0 0 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 NA18992,NA19128 dgv3899n71 19 47997996 48107283 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911843,nsv911860 M 6533 0 6 LOC100289650,PSG1,PSG10P,PSG6 IS30395,IS38620,MS10164,MS12602,SP50839,SP51235 dgv3900n71 19 47997996 48213514 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911863,nsv911858,nsv911870,nsv911864,nsv911859,nsv911861,nsv911849,nsv911862,nsv911865 M 6533 12 0 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 IS31649,IS32150,IS35498,SP50144,SP52458,SP52782,SP54409,SP55749,SP56213,SP57463,SP57603,SP81352 esv22277 19 48000706 48492519 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13582,esv19637,esv16501,esv12103,esv14038,esv10364,esv20446,esv19002 M 451 28 3 LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9 NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19129,NA19147,NA19240,NA19257 esv2421673 19 48007451 48211202 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132910,essv5092583,essv5159592,essv5077874,essv5072577,essv5143717,essv5108070,essv5108081,essv5021077,essv5124784,essv5083959,essv5108318,essv5077403,essv5114106,essv5132812,essv5118718,essv5011188,essv5144172,essv5046097,essv5094326,essv5029803,essv5012322,essv5064950,essv5064278,essv5149774,essv5112175,essv5104046,essv5082551,essv5103861,essv5062416,essv5096921,essv5110217,essv5112940,essv5047602,essv5051660,essv5132361,essv5141915,essv5117202,essv5094397,essv5014078,essv5089436,essv5155735,essv5122127,essv5102830,essv5118421,essv5116474,essv5030134,essv5112006,essv5116228,essv5135411,essv5004455,essv5156319,essv5041201,essv5053495,essv5074865,essv5026693,essv5005940,essv5156764,essv5146819,essv5141641,essv5083487,essv5151975,essv5055623,essv5153696,essv5045928,essv5102938,essv5157823,essv5012019,essv5042346,essv5014693,essv5021415,essv5043877,essv5021643,essv5086307,essv5159048,essv5067346,essv5101167,essv5115713,essv5156151,essv5132071,essv5082349,essv5094961,essv5141370,essv5059387 M 1184 31 53 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 NA10840,NA10855,NA11832,NA12146,NA12286,NA12341,NA12344,NA12348,NA12739,NA12748,NA12749,NA17965,NA18109,NA18136,NA18524,NA18537,NA18605,NA18630,NA18643,NA18868,NA18874,NA18947,NA18956,NA18969,NA19044,NA19119,NA19128,NA19144,NA19182,NA19183,NA19197,NA19199,NA19203,NA19375,NA19376,NA19396,NA19397,NA19443,NA19469,NA19470,NA19625,NA19654,NA19656,NA19669,NA19671,NA19675,NA19677,NA19678,NA19679,NA19761,NA19775,NA19783,NA19795,NA19901,NA19902,NA20281,NA20342,NA20343,NA20517,NA20589,NA20759,NA20775,NA20804,NA20826,NA20828,NA20846,NA20854,NA20877,NA20887,NA20899,NA20903,NA20908,NA21089,NA21113,NA21123,NA21302,NA21363,NA21371,NA21415,NA21440,NA21442,NA21493,NA21494,NA21611 dgv3901n71 19 48009908 48275526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911881,nsv911883,nsv911882,nsv911905,nsv911908,nsv911884,nsv911907,nsv911898,nsv911887,nsv911906,nsv911897,nsv911871,nsv911866,nsv911885,nsv911904 M 6533 0 29 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 IS31045,IS34698,IS35219,IS40707,MS11481,MS15342,MS15779,MS15859,MS17400,MS17677,MS17760,MS18251,MS18946,MS20550,MS20718,MS21491,MS21841,MS24266,SP50585,SP50942,SP52933,SP53516,SP54652,SP55150,SP55407,SP55763,SP55847,SP57379,SP81152 nsv817841 19 48013905 48093776 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417456 S 112 1 0 LOC100289650,PSG1,PSG10P NA18953 nsv817842 19 48013905 48231029 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416693,nssv1417637,nssv1418413,nssv1418232,nssv1418233 M 112 3 2 LOC100289650,PSG1,PSG10P,PSG11,PSG6,PSG7 NA12146,NA18992,NA19119,NA19144,NA19145 nsv817843 19 48013905 48338970 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417124 S 112 1 0 LOC100289650,PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 NA18537 nsv470145 19 48013905 48531928 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546529,nssv546537,nssv546543,nssv546550,nssv546552,nssv546538,nssv546524,nssv546547,nssv546536,nssv546549,nssv546548,nssv546546,nssv546528,nssv546544,nssv546525,nssv546556,nssv546541,nssv546532,nssv546554,nssv546551,nssv546555,nssv546533,nssv546540,nssv546530,nssv546539,nssv546545,nssv546523,nssv546535,nssv546534,nssv546526,nssv546527 M 443 0 31 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100289650,LOC284344,PSG1,PSG10P,PSG11,PSG2,PSG4,PSG5,PSG6,PSG7,PSG9 HGDP00057,HGDP00323,HGDP00330,HGDP00346,HGDP00388,HGDP00461,HGDP00582,HGDP00620,HGDP00678,HGDP00681,HGDP00698,HGDP00713,HGDP00720,HGDP00905,HGDP00924,HGDP00933,HGDP00934,HGDP00960,HGDP01186,HGDP01224,HGDP01254,HGDP01259,HGDP01264,HGDP01282,HGDP01284,HGDP01318,HGDP01323,HGDP01358,HGDP01365,HGDP01366,HGDP01397 dgv3902n71 19 48014139 48197824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911875,nsv911896,nsv911869,nsv911877,nsv911878,nsv911899,nsv911876,nsv911895,nsv911879,nsv911874,nsv911900,nsv911867 M 6533 0 30 LOC100289650,PSG1,PSG10P,PSG6,PSG7 IS30097,IS30434,IS33263,IS33788,IS35523,IS35571,IS36117,IS38098,IS38153,IS41950,MS11760,MS14374,MS14433,MS14522,MS14719,MS14786,MS15658,MS15771,MS17097,MS17529,MS18554,MS20471,MS20588,MS25486,MS25903,SP50896,SP52057,SP53449,SP57734,SP81172 dgv3903n71 19 48017902 48146458 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911873,nsv911894,nsv911892,nsv911893,nsv911891,nsv911868,nsv911872 M 6533 0 14 LOC100289650,PSG1,PSG10P,PSG6,PSG7 IS34019,MS11494,MS21201,MS22568,MS25730,SP50615,SP52431,SP53894,SP54095,SP54173,SP55005,SP56458,SP80975,SP81582 essv17365 19 48024719 48171792 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PSG1,PSG10P,PSG6,PSG7 NA18517 dgv3904n71 19 48031795 48205107 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv911902,nsv911880,nsv911901 M 6533 4 8 PSG1,PSG10P,PSG11,PSG6,PSG7 IS40130,MS13160,MS18552,MS20117,MS21789,MS22840,MS23401,SP52329,SP55041,SP56653,SP58141,SP58236 dgv3905n71 19 48031795 48327285 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911886,nsv911951,nsv911921,nsv911923 M 6533 4 0 PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 IS30197,IS38342,IS39205,MS19677 dgv3906n71 19 48031795 48337397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911950,nsv911971,nsv911922,nsv911952,nsv911888,nsv911930 M 6533 0 6 PSG1,PSG10P,PSG11,PSG2,PSG6,PSG7 IS33768,IS35190,IS35908,SP50826,SP54230,SP54406 dgv3907n71 19 48039926 48197824 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911915,nsv911903 M 6533 2 0 PSG1,PSG10P,PSG6,PSG7 MS11883,MS19341 dgv3908n71 19 48052544 48175709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911945,nsv911940,nsv911944,nsv911934,nsv911912,nsv911914,nsv911960,nsv911909 M 6533 0 61 PSG1,PSG6,PSG7 IS30653,IS31113,IS32395,IS33622,IS34055,IS34059,IS34352,IS34494,IS35099,IS35253,IS36678,IS38101,IS38241,IS38544,IS39321,IS39356,IS40606,IS40812,IS41042,IS41243,MS10391,MS10722,MS12191,MS12261,MS14388,MS14708,MS14905,MS15480,MS15805,MS16128,MS16408,MS16801,MS18211,MS19008,MS22644,MS22678,MS24265,MS24672,MS24781,MS24968,MS25139,MS25345,MS25653,MS25756,MS25765,MS25950,SP52299,SP52332,SP53083,SP53333,SP54063,SP54490,SP54648,SP56731,SP56748,SP57105,SP57268,SP57336,SP58180,SP80917,SP81543 nsv911910 19 48060801 48156721 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525483 S 6533 1 0 PSG1,PSG6,PSG7 SP56633 dgv3909n71 19 48060801 48166539 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv911935,nsv911911,nsv911913,nsv911928 M 6533 5 65 PSG1,PSG6,PSG7 IS30466,IS30775,IS32868,IS34565,IS36011,IS36158,IS36258,IS36789,IS37435,IS37992,IS38012,IS38103,IS38145,IS38444,IS38668,IS39057,IS39194,IS39418,IS39650,IS40449,IS40556,IS40956,MS10074,MS11675,MS12076,MS12577,MS12719,MS13162,MS13281,MS13548,MS14334,MS14518,MS15307,MS15596,MS16011,MS16192,MS16809,MS16926,MS17394,MS17449,MS17739,MS17788,MS18190,MS18307,MS18368,MS20367,MS20583,MS22590,MS24274,MS24444,MS24705,MS24839,MS25436,MS25511,MS25710,MS25725,MS25734,MS25889,SP50170,SP53147,SP53413,SP53802,SP54355,SP54468,SP55092,SP55569,SP55886,SP56708,SP57686,SP58132 dgv3910n71 19 48060801 48205107 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911965,nsv911916,nsv911946,nsv911977 M 6533 0 7 PSG1,PSG11,PSG6,PSG7 IS30593,IS31800,IS33460,IS35076,IS35138,IS36103,IS41802 dgv3911n71 19 48060801 48235556 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv911917,nsv911920 M 6533 2 14 PSG1,PSG11,PSG6,PSG7 MS10119,MS10291,MS13252,MS13774,MS14810,MS15589,MS15826,MS15923,MS16667,MS17563,MS18789,MS24248,MS24808,MS24886,SP53412,SP81562 dgv3912n71 19 48060801 48248683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911948,nsv911970,nsv911919,nsv911949,nsv911961,nsv911932,nsv911937,nsv911936,nsv911947,nsv911918,nsv911979,nsv911978,nsv911929 M 6533 0 26 PSG1,PSG11,PSG6,PSG7 IS36570,IS38461,MS11554,MS12432,MS13206,MS14702,MS14872,MS16373,MS17642,MS17665,MS21924,MS22742,MS24837,SP50179,SP50537,SP50691,SP50725,SP51158,SP51486,SP52137,SP54373,SP54408,SP54891,SP55649,SP56064,SP80928 dgv3913n71 19 48062053 48133891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911942,nsv911941,nsv911926,nsv911943,nsv911931,nsv911939,nsv911925,nsv911933,nsv911938,nsv911927 M 6533 0 16 PSG1,PSG6,PSG7 SP50171,SP50880,SP50914,SP52761,SP53349,SP54043,SP54621,SP54627,SP54808,SP56271,SP56834,SP56950,SP56975,SP80992,SP81014,SP81024 nsv471409 19 48063198 48075711 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548196,nssv548197,nssv548198 M 3 PSG1 nsv482039 19 48063198 48075711 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558400 S 1 1 0 PSG1 KB1 dgv412n27 19 48066441 48160500 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458595,nsv458597,nsv458594 M 1557 3 0 PSG1,PSG6,PSG7 HGDP00062,HGDP00099,HGDP01348 dgv413n27 19 48066441 48253562 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458610,nsv458605,nsv458609,nsv458619,nsv458611,nsv458604,nsv458613,nsv458612,nsv458599,nsv458606,nsv458601,nsv458616,nsv458608,nsv458614,nsv458603,nsv458598,nsv458600 M 1557 0 17 PSG1,PSG11,PSG6,PSG7 1780854302_A,1780854485_A,1798860552_A,HGDP00041,HGDP00105,HGDP00531,HGDP00620,HGDP00820,HGDP00967,HGDP01206,HGDP01208,HGDP01249,HGDP01291,HGDP01330,HGDP01331,HGDP01332,HGDP01358 dgv414n27 19 48066441 48285261 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458602,nsv458622,nsv458615,nsv458624,nsv458620,nsv458623,nsv458617,nsv458621 M 1557 8 0 PSG1,PSG11,PSG2,PSG6,PSG7 HGDP00039,HGDP00135,HGDP00644,HGDP00721,HGDP00791,HGDP00892,HGDP00984,HGDP01191 dgv415n27 19 48066441 48387680 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458649,nsv458639,nsv458648,nsv458641,nsv458637,nsv458636,nsv458642,nsv458675,nsv458635 M 1557 9 0 PSG1,PSG11,PSG2,PSG5,PSG6,PSG7 1780862212_A,HGDP00673,HGDP00676,HGDP00683,HGDP00738,HGDP00964,HGDP01029,HGDP01033,HGDP01164 dgv416n27 19 48066441 48387680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458644,nsv458631,nsv458627,nsv458646,nsv458628,nsv458634,nsv458647,nsv458638,nsv458630,nsv458633,nsv458643,nsv458632,nsv458645 M 1557 0 13 PSG1,PSG11,PSG2,PSG5,PSG6,PSG7 1780854103_A,1780854419_A,1780854522_A,1780862457_A,HGDP00319,HGDP00323,HGDP00736,HGDP01246,HGDP01264,HGDP01282,HGDP01378,NINDS_101,NINDS_13 dgv3914n71 19 48071601 48133891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911959,nsv911956,nsv911958,nsv911955,nsv911957 M 6533 0 9 PSG1,PSG6,PSG7 SP50066,SP54480,SP54657,SP54803,SP55265,SP55652,SP55952,SP57577,SP57925 dgv3915n71 19 48082202 48184865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911964,nsv911962,nsv911969,nsv911976,nsv911975,nsv911974,nsv911963 M 6533 0 9 PSG6,PSG7 IS34081,IS36735,IS37874,IS38617,IS41825,MS18970,MS23796,SP51030,SP55984 dgv3916n71 19 48083865 48133891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911972,nsv911967,nsv911968,nsv911973 M 6533 0 5 PSG6,PSG7 SP50761,SP52676,SP54983,SP57199,SP57545 nsv471410 19 48099608 48113829 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548199,nssv548202,nssv548201 M 3 PSG6 nsv482040 19 48099608 48113829 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558401 S 1 1 0 PSG6 KB1 nsv911980 19 48111750 48146458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503055 S 6533 0 1 PSG6,PSG7 SP51481 nsv458650 19 48111750 48231029 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535562 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSG11,PSG6,PSG7 HGDP01211 nsv911981 19 48114839 48231029 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559685 S 6533 0 1 PSG11,PSG7 MS24083 dgv417n27 19 48114839 48387680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458665,nsv458677,nsv458659,nsv458670,nsv458673,nsv458664,nsv458678,nsv458681,nsv458668,nsv458679,nsv458666,nsv458682,nsv458669,nsv458671,nsv458652,nsv458672,nsv458661,nsv458680 M 1557 0 18 PSG11,PSG2,PSG5,PSG7 1780854483_A,1780862346_A,1788485381_A,HGDP00423,HGDP00678,HGDP00698,HGDP00740,HGDP00769,HGDP01063,HGDP01254,HGDP01259,HGDP01284,HGDP01337,HGDP01365,HGDP01366,NINDS_156,NINDS_195,NINDS_205 esv2751794 19 48116890 48403432 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984276,essv6984277 M 771 1 0 PSG11,PSG2,PSG4,PSG5,PSG7 BEC_683 nsv471411 19 48120124 48133170 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548203,nssv548205,nssv548204 M 3 PSG7 nsv482041 19 48120124 48133170 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558402 S 1 1 0 PSG7 KB1 nsv458653 19 48130590 48285261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535565 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSG11,PSG2,PSG7 HGDP00330 dgv3917n71 19 48133891 48213514 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911983,nsv911982 M 6533 0 3 PSG11 MS11061,MS25675,SP52058 nsv911984 19 48146458 48213514 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520978,nssv1600384,nssv1539897,nssv1541661,nssv1563206,nssv1597993,nssv1554421,nssv1541816,nssv1520545,nssv1536887 M 6533 3 7 PSG11 IS40883,IS41875,MS13002,MS14566,MS15410,MS15502,MS20797,MS25901,SP51134,SP51356 dgv3918n71 19 48146458 48253562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911995,nsv911992,nsv911986,nsv911994,nsv911991,nsv911985 M 6533 0 18 PSG11 IS30297,IS30395,IS31113,IS31307,IS31728,IS33622,IS34494,IS35568,IS38620,MS10164,MS11494,MS12602,MS16801,SP50839,SP51016,SP56410,SP57574,SP81543 dgv3919n71 19 48146458 48312997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv911988,nsv912004,nsv911987 M 6533 0 4 PSG11,PSG2 IS35015,MS13703,SP52925,SP53260 dgv3920n71 19 48146458 48337397 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv911998,nsv912015,nsv912011,nsv912006,nsv912000,nsv911999,nsv912014,nsv912005,nsv911989 M 6533 11 0 PSG11,PSG2 IS32888,IS34510,IS35622,IS40104,IS40302,MS12640,MS23098,MS24158,MS24749,SP50720,SP55558 dgv3921n71 19 48146458 48486426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912018,nsv911990,nsv911997,nsv912008,nsv912007,nsv911996,nsv912019 M 6533 0 8 LOC284344,PSG11,PSG2,PSG4,PSG5,PSG9 IS33263,IS38448,IS39400,MS15364,MS15771,SP50624,SP50830,SP57852 esv2421574 19 48149894 48389173 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129588,essv5002863,essv5053256,essv5138573,essv5101902,essv5109185,essv5053695,essv5036700,essv5046653,essv5148365,essv5030436,essv5107539,essv5124042,essv5050143,essv5121976,essv5118851,essv5030612,essv5145335,essv5041254,essv5025116,essv5025744,essv5025596,essv5128509,essv5012329,essv5010730,essv5022519,essv5084912,essv5136621,essv5059045,essv5028485,essv5015873,essv5077274,essv5035272,essv5023230,essv5159598,essv5043224,essv5045687,essv5082048,essv5053632,essv5074337,essv5024256,essv5055019,essv5131120,essv5105452,essv5143777,essv5053724,essv5002799,essv5099007,essv5085525,essv5128321,essv5158116,essv5147363,essv5080151,essv5123030,essv5056174,essv5074291,essv5067667,essv5039982,essv5028404,essv5045659,essv5056039 M 1184 27 34 PSG11,PSG2,PSG4,PSG5 NA07345,NA18497,NA18498,NA18500,NA18501,NA18517,NA18537,NA18543,NA18605,NA18630,NA18748,NA18862,NA18874,NA18999,NA19010,NA19044,NA19057,NA19147,NA19148,NA19192,NA19203,NA19256,NA19258,NA19375,NA19376,NA19396,NA19397,NA19625,NA19654,NA19656,NA19660,NA19664,NA19665,NA19675,NA19678,NA19761,NA19795,NA19834,NA19836,NA19916,NA20276,NA20297,NA20301,NA20346,NA20350,NA20517,NA20775,NA20826,NA20883,NA21102,NA21113,NA21303,NA21316,NA21318,NA21390,NA21414,NA21573,NA21577,NA21582,NA21716,NA21718 dgv418n27 19 48150403 48231029 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458655,nsv458654 M 1557 0 2 PSG11 HGDP01069,NINDS_26 dgv419n27 19 48150403 48329023 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458658,nsv458656,nsv458676,nsv458667,nsv458657,nsv458660 M 1557 6 0 PSG11,PSG2 HGDP00112,HGDP00205,HGDP00234,HGDP00258,HGDP00577,HGDP01271 nsv510769 19 48155337 48194927 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617437 S 4 0 1 "" CHM dgv3922n71 19 48156721 48275526 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912003,nsv911993 M 6533 2 0 PSG11,PSG2 IS38438,SP52464 nsv912001 19 48160500 48498399 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586324 S 6533 1 0 LOC284344,PSG11,PSG2,PSG4,PSG5,PSG9 IS37738 nsv833837 19 48162116 48366577 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454734,nssv1454736,nssv1454735 M 95 3 0 PSG11,PSG2,PSG5 nsv912002 19 48166539 48235556 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501887,nssv1514962,nssv1503708 M 6533 1 2 PSG11 SP51030,SP52094,SP56104 nsv469727 19 48171288 48356279 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649748 M 265 0 15 Samples from several populations that are part of the HapMap project. PSG11,PSG2 dgv3923n71 19 48175709 48275526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912012,nsv912020,nsv912009 M 6533 0 8 PSG11,PSG2 IS38145,IS38962,IS41825,MS18209,SP53242,SP53413,SP53802,SP81145 dgv3924n71 19 48175709 48296578 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912013,nsv912010,nsv912021 M 6533 0 5 PSG11,PSG2 IS38635,SP50896,SP51403,SP53147,SP81495 dgv1092e1 19 48182927 48496602 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9520,essv11479,essv13348,essv9571 M 271 0 0 LOC284344,PSG11,PSG2,PSG4,PSG5,PSG9 NA18500,NA18501,NA18521,NA18856 nsv912016 19 48184865 48333776 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532755,nssv1579371,nssv1528028 M 6533 1 2 PSG11,PSG2 IS35099,MS10825,SP81107 nsv912017 19 48184865 48338970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588099 S 6533 0 1 PSG11,PSG2 IS38153 dgv3925n71 19 48192574 48454167 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912032,nsv912022,nsv912044,nsv912031,nsv912043,nsv912033,nsv912025 M 6533 9 0 LOC284344,PSG11,PSG2,PSG4,PSG5,PSG9 IS30742,IS32322,IS33076,IS33494,IS33636,MS18123,MS24995,SP50921,SP81047 dgv3926n71 19 48197824 48337397 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912024,nsv912023 M 6533 2 0 PSG11,PSG2 IS36656,SP54921 dgv420n27 19 48197824 48387680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458689,nsv458691,nsv458683,nsv458690,nsv458692 M 1557 0 5 PSG11,PSG2,PSG5 HGDP00520,HGDP00905,HGDP00924,HGDP00933,HGDP01323 dgv421n27 19 48197824 48387680 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458687,nsv458695,nsv458694,nsv458697,nsv458693,nsv458686,nsv458688,nsv458684 M 1557 8 0 PSG11,PSG2,PSG5 1780854499_A,1782681164_A,HGDP00210,HGDP00631,HGDP00696,HGDP01078,HGDP01274,HGDP01386 nsv437832 19 48198909 48492801 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467713 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC284344,PSG11,PSG2,PSG4,PSG5,PSG9 NA18500 dgv1093e1 19 48200873 48403432 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12901,essv3514,essv14026 M 271 0 0 PSG11,PSG2,PSG4,PSG5 NA18522,NA18862,NA18999 nsv471412 19 48203649 48222471 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548206,nssv548207,nssv548208 M 3 PSG11 nsv482042 19 48203649 48222471 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558403 S 1 1 0 PSG11 KB1 nsv817844 19 48205499 48387680 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416410 S 112 0 1 PSG11,PSG2,PSG5 NA18856 dgv1094e1 19 48230781 48481823 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv974,essv17374,essv742,essv11405,essv21651 M 271 0 0 LOC284344,PSG2,PSG4,PSG5,PSG9 NA12761,NA18517,NA18981,NA19003,NA19192 dgv3927n71 19 48231029 48312997 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912026,nsv912027 M 6533 2 0 PSG2 SP52160,SP56518 dgv3928n71 19 48231029 48358537 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912056,nsv912037,nsv912048,nsv912038,nsv912039,nsv912055,nsv912029,nsv912028 M 6533 9 0 PSG2 IS30127,MS12406,MS19606,MS23120,SP53625,SP55642,SP55984,SP56870,SP57336 dgv3929n71 19 48231029 48374431 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912030,nsv912051,nsv912040,nsv912050,nsv912059,nsv912049,nsv912057 M 6533 12 0 PSG2,PSG5 IS30206,IS31487,IS36963,MS12366,MS13428,MS17857,MS19068,MS20229,MS20671,MS20771,MS21442,MS21626 dgv3930n71 19 48231029 48498399 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912072,nsv912045,nsv912053,nsv912034,nsv912085 M 6533 10 0 LOC284344,PSG2,PSG4,PSG5,PSG9 IS31837,IS40502,MS10378,MS11675,MS12785,MS13068,MS20334,MS22166,MS24503,MS25406 dgv3931n71 19 48235556 48296578 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912035,nsv912036 M 6533 0 4 PSG2 SP50171,SP54173,SP54627,SP56975 nsv912041 19 48235556 48391048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519074 S 6533 0 1 PSG2,PSG4,PSG5 SP80948 nsv912042 19 48235556 48418735 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595787,nssv1525268,nssv1520546,nssv1558873,nssv1533980,nssv1529970,nssv1531784,nssv1537728,nssv1547413,nssv1588597,nssv1554666,nssv1545612,nssv1588802,nssv1526230,nssv1533042,nssv1556839,nssv1539522,nssv1586255,nssv1526731,nssv1535142,nssv1562465,nssv1578157 M 6533 18 4 LOC284344,PSG2,PSG4,PSG5 IS34698,IS37704,IS38219,IS38251,IS40326,MS10150,MS10645,MS10994,MS11358,MS12039,MS13330,MS14354,MS16851,MS17371,MS20878,MS22212,MS23583,MS25603,SP51134,SP56387,SP57113,SP57736 nsv912046 19 48235556 48498399 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596765,nssv1562616 M 6533 1 1 LOC284344,PSG2,PSG4,PSG5,PSG9 IS40627,MS25674 nsv442767 19 48248681 48288811 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PSG2 nsv912047 19 48248683 48329023 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535610 S 6533 1 0 PSG2 MS12281 dgv3932n71 19 48248683 48430180 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912061,nsv912082,nsv912060,nsv912070,nsv912079,nsv912052,nsv912083,nsv912058 M 6533 29 0 LOC284344,PSG2,PSG4,PSG5 IS32532,IS33871,IS34108,IS35726,IS36262,IS38006,IS38141,IS38333,IS38371,IS41687,IS41875,MS10301,MS10983,MS12345,MS12837,MS13751,MS14939,MS15167,MS15679,MS18070,MS21709,MS22448,MS22971,MS24223,MS25588,SP50843,SP53368,SP55348,SP57965 nsv912054 19 48251170 48296578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513426 S 6533 0 1 PSG2 SP55763 esv2751795 19 48251170 48562727 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984990,essv6990056 M 771 0 1 CD177,LOC284344,PRG1,PSG2,PSG4,PSG5,PSG9 SPC_29 nsv817845 19 48253562 48285261 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415796 S 112 0 1 PSG2 NA12875 dgv422n27 19 48253562 48387680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458701,nsv458699,nsv458698,nsv458702 M 1557 0 4 PSG2,PSG5 HGDP00461,HGDP00934,HGDP01397,NINDS_26 nsv817846 19 48253562 48387680 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416509,nssv1417680 M 112 1 1 PSG2,PSG5 NA18517,NA18999 dgv3933n71 19 48262782 48462406 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912080,nsv912071,nsv912062,nsv912097,nsv912092 M 6533 5 0 LOC284344,PSG2,PSG4,PSG5,PSG9 IS30336,IS40883,MS12092,MS18503,SP50629 dgv3934n71 19 48262782 48498399 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912098,nsv912084,nsv912063 M 6533 0 3 LOC284344,PSG2,PSG4,PSG5,PSG9 IS33887,IS40521,SP50099 dgv3935n71 19 48267714 48338970 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912064,nsv912074 M 6533 2 0 PSG2 MS25653,SP56104 nsv458700 19 48267714 48354926 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535612 S 1557 0 1 PSG2 1780862310_A nsv817847 19 48267714 48354926 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418523 S 112 1 0 PSG2 NA19192 dgv3936n71 19 48275526 48374431 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912068,nsv912076,nsv912066,nsv912081,nsv912077,nsv912065,nsv912067 M 6533 24 0 PSG2,PSG5 IS30189,IS30241,IS30294,IS33786,IS34748,IS36789,IS37915,IS38119,MS11337,MS11741,MS11883,MS12642,MS12886,MS13441,MS17691,MS18028,MS18694,MS19301,MS22962,MS24864,MS24918,MS26017,SP51102,SP57603 dgv3937n71 19 48275526 48391048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912069,nsv912075,nsv912078 M 6533 0 3 PSG2,PSG4,PSG5 IS40759,SP52057,SP55834 nsv912073 19 48277736 48329023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516858 S 6533 0 1 PSG2 SP56960 dgv3938n71 19 48312997 48370536 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912088,nsv912087,nsv912093,nsv912086 M 6533 4 0 PSG5 MS14526,MS16419,MS21506,SP80924 dgv3939n71 19 48312997 48391048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912094,nsv912089 M 6533 0 2 PSG4,PSG5 MS20797,SP55763 dgv3940n71 19 48312997 48418735 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv912102,nsv912090,nsv912104,nsv912100 M 6533 19 13 LOC284344,PSG4,PSG5 IS31307,IS35331,IS38031,IS38069,IS41524,MS12544,MS12972,MS13205,MS14522,MS14630,MS15090,MS15502,MS15768,MS16947,MS17817,MS18077,MS18190,MS18209,MS18368,MS18667,MS19584,MS20550,MS20588,MS21159,MS21789,MS23423,MS24444,MS24483,MS25675,MS25833,SP53569,SP58325 dgv3941n71 19 48312997 48454167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912103,nsv912095,nsv912091 M 6533 0 3 LOC284344,PSG4,PSG5,PSG9 IS39022,MS10164,MS13703 nsv442768 19 48316884 48335220 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1095e1 19 48316888 48445318 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3656,essv1552,essv15908,essv7252,essv6798,essv180,essv5955 M 271 0 0 LOC284344,PSG4,PSG5 NA18577,NA18594,NA18635,NA18991,NA18994,NA19012,NA19205 nsv833838 19 48319379 48401580 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454737,nssv1454738 M 95 2 0 PSG4,PSG5 dgv1096e1 19 48319691 48503651 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19307,essv1077,essv18500,essv25093,essv5893,essv19848,essv9551,essv2139,essv18886,essv13944 M 271 0 0 LOC284344,PSG4,PSG5,PSG9 NA07022,NA12156,NA12234,NA12717,NA12814,NA18576,NA18861,NA18978,NA18990,NA19160 nsv458703 19 48321413 48383158 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535615 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSG5 HGDP00791 nsv912096 19 48321413 48454167 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529739,nssv1532316 M 6533 1 1 LOC284344,PSG4,PSG5,PSG9 MS10119,MS10756 nsv437833 19 48326010 48471583 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467714 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC284344,PSG4,PSG5,PSG9 NA18521 dgv3942n71 19 48329023 48387680 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912101,nsv912099 M 6533 2 0 PSG5 MS13281,MS24837 esv7692 19 48336611 48436114 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30133 S 1 0 1 LOC284344,PSG4,PSG5 SJK nsv912105 19 48337397 48454167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590683 S 6533 1 0 LOC284344,PSG4,PSG5,PSG9 IS38552 essv22369 19 48347697 48590893 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CD177,LOC284344,PRG1,PSG4,PSG5,PSG9,TEX101 NA12875 nsv458704 19 48350666 48387680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535616 S 1557 0 1 PSG5 1782681262_A nsv437182 19 48350666 48422858 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467063 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC284344,PSG4,PSG5 NA10831 dgv1097e1 19 48350666 48462406 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1332,essv15933,essv8536,essv3624,essv8065,essv6206,essv2910,essv20728,essv22278,essv3841,essv8966,essv1718,essv8543,essv8265,essv12017,essv18529,essv6474,essv10190,essv17375,essv19159,essv14231,essv4531,essv13491,essv20487,essv24623,essv922,essv12868,essv7918,essv19343 M 271 0 0 LOC284344,PSG4,PSG5,PSG9 NA06985,NA10846,NA12752,NA12762,NA12763,NA12812,NA12874,NA18502,NA18503,NA18515,NA18516,NA18523,NA18563,NA18566,NA18636,NA18855,NA18913,NA18914,NA18949,NA18953,NA18966,NA18968,NA18973,NA19007,NA19139,NA19141,NA19153,NA19161,NA19209 dgv1098e1 19 48350666 48485993 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4212,essv21929,essv22027,essv20703,essv21895,essv6856,essv18548,essv23629,essv24212,essv21476,essv17850,essv25152,essv8670,essv24545,essv24174,essv20857,essv21086,essv19725,essv23319,essv18799,essv25132,essv22737,essv20871,essv21945,essv19119,essv25037,essv19067,essv20522,essv19888,essv18056,essv24329,essv24105,essv12940,essv19488,essv24355,essv20545,essv20444,essv19711,essv19371,essv24187,essv2105,essv18022,essv21581,essv22690,essv25075,essv19830,essv25181,essv19029,essv23297,essv16623,essv23105 M 271 0 0 LOC284344,PSG4,PSG5,PSG9 NA06991,NA06993,NA06994,NA07000,NA07019,NA07034,NA07048,NA07055,NA07056,NA10830,NA10839,NA10847,NA10854,NA10856,NA10857,NA10859,NA11829,NA11830,NA11831,NA11839,NA11840,NA11881,NA11882,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12057,NA12144,NA12145,NA12146,NA12236,NA12239,NA12248,NA12264,NA12716,NA12750,NA12751,NA12801,NA12802,NA12815,NA12878,NA12892,NA18558,NA18609,NA18959,NA19101,NA19102,NA19208 nsv458705 19 48354926 48531928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535617 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC284344,PSG4,PSG5,PSG9 HGDP00057 nsv817848 19 48354926 48531928 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415797 S 112 0 1 LOC284344,PSG4,PSG5,PSG9 NA12875 dgv1099e1 19 48362135 48445318 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1051,essv5868,essv11353,essv17691,essv15154,essv12436,essv9261,essv8034,essv11388,essv15184 M 271 0 0 LOC284344,PSG4,PSG5 NA10835,NA18504,NA18555,NA18975,NA19103,NA19127,NA19128,NA19137,NA19152,NA19210 dgv1100e1 19 48362135 48511244 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2943,essv22613,essv20741,essv21355,essv20470,essv20971,essv12113,essv1642,essv23749,essv24436,essv8883,essv6090 M 271 0 0 LOC284344,PSG4,PSG5,PSG9 NA07357,NA10860,NA10863,NA11994,NA12154,NA12249,NA12865,NA18621,NA18961,NA18972,NA19171,NA19173 dgv1101e1 19 48362435 48435623 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15961,essv8409,essv18877,essv17986,essv9489,essv8581,essv10604,essv21909,essv617,essv23692,essv14916,essv22790 M 271 0 0 LOC284344,PSG4,PSG5 NA07029,NA10838,NA12005,NA12740,NA12753,NA18998,NA19093,NA19129,NA19130,NA19142,NA19154,NA19211 nsv471413 19 48363735 48382528 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548212,nssv548209,nssv548210 M 3 PSG5 nsv482043 19 48363735 48382528 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558404 S 1 1 0 PSG5 KB1 esv34676 19 48373067 48511244 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980393,essv6980392 M 771 0 1 LOC284344,PSG4,PSG5,PSG9 NA10831 nsv828557 19 48377689 48400480 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422296 S 31 0 1 PSG4,PSG5 NA18969 nsv2499 19 48380975 48458730 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9337 S 9 0 1 LOC284344,PSG4,PSG5,PSG9 NA18517 dgv590n67 19 48381513 48461975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828559,nsv828558 M 31 0 25 LOC284344,PSG4,PSG5,PSG9 AK10,AK12,AK16,AK18,AK2,AK20,AK4,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv33039 19 48381840 48449576 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94657,essv93986,essv95495,essv93136,essv95913,essv94485,essv92740,essv96087,essv96587,essv96050,essv93539,essv93390,essv95028,essv92640,essv96534,essv99226,essv100220 M 51 17 0 LOC284344,PSG4,PSG5,PSG9 21791,21802,21847,21863,21911,21932,21944,22007,22011,22127,22128,22170,22231,22233,22261,22275,22286 nsv482044 19 48388696 48401630 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558405 S 1 1 0 PSG4 KB1 nsv435702 19 48392289 48457065 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465688 S 2 0 1 LOC284344,PSG4,PSG9 NA15510 esv6630 19 48392832 48456657 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29071 S 1 0 1 LOC284344,PSG4,PSG9 SJK nsv820547 19 48393200 48461975 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420057 S 1 0 1 LOC284344,PSG4,PSG9 NA10851 esv1002165 19 48394082 48461975 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586121 S 3 1 0 LOC284344,PSG4,PSG9 HuRef nsv442769 19 48394873 48448077 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC284344,PSG4 dgv1102e1 19 48395295 48427094 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3447,essv11599,essv614,essv16177 M 271 0 0 LOC284344,PSG4 NA18506,NA18947,NA18956,NA19207 dgv1103e1 19 48395295 48445318 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2383,essv1296,essv5775,essv12095,essv7910,essv7482,essv13374,essv7061 M 271 0 0 LOC284344,PSG4 NA18540,NA18561,NA18612,NA18976,NA18980,NA19099,NA19159,NA19239 dgv1104e1 19 48395295 48462406 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6520,essv4344,essv1562,essv10503,essv8685,essv986 M 271 0 0 LOC284344,PSG4,PSG9 NA18572,NA18622,NA18912,NA18964,NA18997,NA19143 dgv1105e1 19 48395295 48496602 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12029,essv11070,essv14811,essv2708,essv7473 M 271 0 0 LOC284344,PSG4,PSG9 NA18633,NA18870,NA18944,NA19116,NA19138 nsv469787 19 48405048 48578186 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649808 M 265 0 3 Samples from several populations that are part of the HapMap project. CD177,LOC284344,PRG1,PSG9 essv16583 19 48405051 48427094 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC284344 NA18860 nsv912106 19 48418735 48527556 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592730 S 6533 1 0 LOC284344,PSG9 IS39243 nsv436856 19 48422617 48480504 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465689 S 2 1 0 Samples from several populations that are part of the HapMap project. LOC284344,PSG9 NA18505 essv21588 19 48435623 48562727 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CD177,LOC284344,PRG1,PSG9 NA12155 essv23156 19 48445318 48511244 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PSG9 NA10831 nsv471414 19 48449275 48465522 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548215,nssv548213,nssv548214 M 3 PSG9 nsv482045 19 48449275 48465522 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558406 S 1 1 0 PSG9 KB1 essv24618 19 48461673 48501787 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PSG9 NA12875 nsv511618 19 48462406 48537433 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626249 S 1 0 1 PSG9 1 nsv469666 19 48468987 48626174 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649595 M 265 0 0 Samples from several populations that are part of the HapMap project. CD177,PRG1,TEX101 nsv9731 19 48490564 48503771 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26643 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 dgv423n27 19 48498399 48531928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458708,nsv458709,nsv458706 M 1557 0 3 "" 1780854095_A,1780854480_A,1788485590_A nsv526966 19 48498835 48562727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703338 S 2026 0 1 CD177,PRG1 nsv2500 19 48511889 48547817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6791,nssv2230 M 9 2 0 PRG1 NA12156,NA18555 nsv9732 19 48512660 48527653 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26656 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 nsv9733 19 48529507 48535807 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26669 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 esv5616 19 48550551 48576084 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28057 S 1 0 0 CD177 SJK nsv828560 19 48551234 48556173 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439388,nssv1438527 M 31 2 0 CD177 NA18951,NA18973 nsv828561 19 48551234 48575460 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435561,nssv1436907 M 31 0 2 CD177 NA18592,NA18942 esv8862 19 48556041 48570759 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31303 S 1 0 0 CD177 SJK nsv520852 19 48576925 48651954 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684803,nssv676380,nssv686356,nssv698358 M 2026 3 1 TEX101 esv1342569 19 48594022 48594090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367396 S 2 0 1 TEX101 HuRef nsv509744 19 48596284 48672809 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623761 S 4 1 0 LYPD3,PHLDB3,TEX101 NA18994 nsv2501 19 48634421 48670264 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7444 S 9 0 1 LYPD3 NA12156 nsv2502 19 48662931 48697567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2999 S 9 1 0 PHLDB3 NA18555 nsv137943 19 48707634 48707824 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156521 M 24 ETHE1 nsv513529 19 48713172 48713439 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625943 S 1 1 0 ETHE1 1 esv2584150 19 48713271 48713431 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244819 S 1 1 0 ETHE1 NA18507 esv1297424 19 48713383 48713383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288990 S 2 1 0 ETHE1 HuRef nsv912107 19 48722838 48747566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511603,nssv1510355 M 6533 0 2 ETHE1,XRCC1,ZNF575 SP54956,SP55021 nsv833839 19 48791653 48964139 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454739 S 95 0 1 CADM4,IRGC,IRGQ,KCNN4,PLAUR,SMG9,SRRM5,ZNF428,ZNF576 esv23415 19 48834753 48836180 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11178 S 451 1 0 CADM4 NA12044 esv2445332 19 48861253 48862164 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166800 S 1 1 0 PLAUR NA18507 esv2495435 19 48874842 48875588 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289016 S 1 1 0 "" NA18507 esv259763 19 48875236 48875934 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396745,essv2396691,essv2398565,essv2400613,essv2395678,essv2396384 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA12750,NA18516,NA18576,NA19116,NA19138 esv1320860 19 48875567 48875567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054147 S 2 1 0 "" HuRef nsv2503 19 48886912 48919203 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4363 S 9 1 0 IRGC NA12878 nsv819607 19 48888433 48893040 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419646 S 2 0 1 "" AK1 nsv509745 19 48942280 49004487 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623762 S 4 1 0 KCNN4,LYPD5,SMG9 NA18994 esv1764870 19 48984233 48984305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227866 S 2 0 1 "" HuRef esv1576801 19 48994183 48994183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206272 S 2 1 0 LYPD5 HuRef nsv458710 19 49031800 49102686 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535622 S 1557 0 1 LOC100505715,ZNF283,ZNF404 NINDS_222 nsv524460 19 49044528 49063855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700394 S 2026 0 1 ZNF283 nsv912108 19 49050601 49127007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514734 S 6533 0 1 LOC100505715,ZNF404,ZNF45 SP56047 esv269278 19 49062960 49063045 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516751 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv268165 19 49069737 49071383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496755,essv2510665,essv2496148,essv2493808,essv2505170,essv2507180,essv2509339,essv2504600,essv2506434,essv2499067,essv2497586,essv2499746,essv2502246 M 157 13 0 Samples from several populations that are part of the HapMap project. ZNF404 NA18498,NA18501,NA18511,NA18517,NA18853,NA18870,NA18909,NA19099,NA19108,NA19114,NA19147,NA19225,NA19257 nsv2504 19 49077112 49107598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1455 S 9 1 0 LOC100505715 NA19240 nsv469650 19 49097834 49247266 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649578 M 265 15 0 Samples from several populations that are part of the HapMap project. ZNF155,ZNF221,ZNF222,ZNF230,ZNF45 nsv510476 19 49123763 49129763 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622287 S 4 0 1 ZNF45 NA10860 nsv912109 19 49150914 49184982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526321 S 6533 0 1 ZNF155,ZNF221 SP57165 esv1970688 19 49193815 49194260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855936 S 1 0 1 ZNF155 NA18507 nsv819782 19 49209746 49211215 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419266 S 2 0 1 ZNF230 AK1 nsv833840 19 49212460 49407600 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454740 S 95 1 0 LOC100379224,ZNF222,ZNF223,ZNF224,ZNF225,ZNF226,ZNF234,ZNF284 nsv2505 19 49403409 49437772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1456 S 9 1 0 ZNF227 NA19240 nsv521923 19 49455904 49461814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694693 S 2026 0 1 ZNF233 dgv3943n71 19 49532629 49594030 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912110,nsv912111 M 6533 0 2 ZFP112,ZNF285 IS34262,IS38521 esv1016841 19 49533408 49533408 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058582 S 2 1 0 ZFP112 HuRef nsv515911 19 49543974 49626859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659425,nssv706114,nssv673184,nssv683320,nssv667681,nssv657396,nssv675197,nssv681643,nssv665270 M 2026 0 9 ZFP112,ZNF229,ZNF285 dgv3944n71 19 49545547 49703567 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912112,nsv912114 M 6533 0 2 CEACAM20,ZFP112,ZNF180,ZNF229,ZNF285 MS16834,MS25756 nsv912113 19 49550616 49620725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581185 S 6533 0 1 ZFP112,ZNF285 IS35523 esv3646 19 49573730 49574412 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26087 S 1 0 1 Single Asian sample YH "" YH esv25060 19 49584220 49605040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15098 S 451 0 1 ZNF285 NA18858 nsv9734 19 49584601 49631863 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25232,nssv27787 M 31 1 1 Samples from several populations that are part of the HapMap project. ZNF229,ZNF285 NA18860,NA19007 dgv1106e1 19 49585942 49639284 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13357,essv16586,esv1355 M 271 0 0 ZNF229,ZNF285 NA18860,NA19159 esv2421963 19 49588238 49630631 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033065,essv5039707,essv5044448,essv5007261,essv5106399,essv5111706,essv5152211,essv5060072,essv5120107,essv5083503,essv5035896,essv5126714,essv5030032 M 1184 0 13 ZNF229,ZNF285 NA18858,NA18860,NA18874,NA18875,NA18933,NA18935,NA19159,NA19315,NA20322,NA20345,NA21336,NA21387,NA21389 nsv442465 19 49588238 49630631 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZNF229,ZNF285 nsv817849 19 49594855 49626859 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416810 S 112 0 1 ZNF229,ZNF285 NA19159 esv23930 19 49605136 49612671 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14016 S 451 1 1 "" NA12044,NA12828 nsv820389 19 49605136 49612671 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420058 S 1 1 0 "" NA10851 esv6503 19 49607609 49653263 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28944 S 1 0 0 ZNF229 SJK esv26773 19 49620084 49630561 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16323 S 451 0 1 ZNF229 NA18858 nsv523693 19 49647767 49649348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699500 S 2026 0 1 "" nsv524201 19 49647767 49670023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700087 S 2026 0 1 "" nsv525472 19 49647767 49670023 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701600 S 2026 1 0 "" esv21557 19 49649342 49656093 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16834 S 451 1 1 "" NA12044,NA12828 nsv912115 19 49649348 49687830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540936 S 6533 0 1 ZNF180 MS15094 nsv512583 19 49649363 49654415 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625193 S 1 0 1 "" 1 esv7164 19 49649526 49655612 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29605 S 1 0 1 "" SJK nsv513758 19 49649789 49656046 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627010 S 1 1 0 "" 1 nsv507897 19 49655744 49661744 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620641 S 4 1 0 "" NA15510 nsv507898 19 49658038 49664038 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619221 S 4 1 0 "" NA10860 esv270884 19 49671419 49677510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511868,essv2504277,essv2501014,essv2509313 M 157 4 0 Samples from several populations that are part of the HapMap project. ZNF180 NA18499,NA18505,NA18856,NA18909 nsv521513 19 49691899 49694403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698130 S 2026 0 1 ZNF180 esv1361421 19 49746432 49746432 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214820 S 2 1 0 CEACAM22P HuRef esv1393126 19 49754335 49754437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022255 S 2 0 1 "" HuRef esv1160218 19 49759177 49759177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836528 S 2 1 0 "" HuRef esv25250 19 49802205 49805405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10477 S 451 0 1 "" NA19108 nsv912116 19 49837943 49989909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529893 S 6533 0 1 BCL3,CBLC,CEACAM16,CEACAM19,MIR4531,PVR MS10123 nsv9736 19 49861247 49865838 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27566 S 31 0 1 Samples from several populations that are part of the HapMap project. PVR NA18517 esv21879 19 49861799 49862494 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16405 S 451 0 1 "" NA18517 esv1147178 19 49863422 49863488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956179 S 2 0 1 "" HuRef nsv9737 19 49869950 49898469 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28561 S 31 1 0 Samples from several populations that are part of the HapMap project. CEACAM16,CEACAM19 NA19221 nsv833841 19 49900326 49999883 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454741 S 95 0 1 BCL3,CBLC,CEACAM16 nsv2506 19 49945103 49989651 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2231 S 9 0 1 BCL3,CBLC NA18555 dgv3945n71 19 49989909 50018504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912118,nsv912122,nsv912117 M 6533 4 0 BCAM,CBLC SP52077,SP54614,SP54792,SP55878 dgv3946n71 19 49996147 50009309 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912120,nsv912119 M 6533 2 0 BCAM SP54381,SP54448 nsv912121 19 49996147 50011137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511085 S 6533 0 1 BCAM SP54988 esv1337771 19 49996159 49996915 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717285 S 2 0 1 "" HuRef esv269650 19 50000698 50000783 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517152 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv912123 19 50002159 50006235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502278,nssv1500035 M 6533 0 2 BCAM SP50043,SP51061 nsv912124 19 50002159 50010404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509000 S 6533 0 1 BCAM SP54725 dgv3947n71 19 50002159 50013681 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912125,nsv912128 M 6533 0 2 BCAM SP54672,SP54956 nsv912126 19 50003363 50008929 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509203,nssv1502645 M 6533 1 1 BCAM SP51307,SP54761 nsv912127 19 50003954 50008647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508008 S 6533 1 0 BCAM SP54650 dgv12e24 19 50043310 50044258 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750526,esv2750571,esv2750480,esv2750491,esv2750495,esv2750613,esv2750617,esv2750681,esv2750687,esv2750725,esv2750758,esv2750768,esv2750664,esv2750556 M 51 14 0 PVRL2 21618,21634,21808,21847,21863,21872,21939,22011,22127,22128,22231,22286,22298,22371 dgv13e24 19 50043310 50044258 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750647,esv2750568,esv2750590,esv2750740 M 51 0 4 PVRL2 21909,21932,21938,22278 esv2750597 19 50051654 50053314 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96465 S 51 0 1 PVRL2 22261 dgv3948n71 19 50071631 50140305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912130,nsv912129 M 6533 0 6 APOC1,APOC1P1,APOC4,APOC4-APOC2,APOE,PVRL2,TOMM40 IS34235,IS39417,MS10698,MS16153,MS17208,MS18276 nsv509747 19 50073033 50138523 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619751 S 4 1 0 APOC1,APOC1P1,APOC4,APOC4-APOC2,APOE,PVRL2,TOMM40 NA10860 dgv3949n71 19 50083422 50107480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912132,nsv912131 M 6533 0 2 APOE,PVRL2,TOMM40 SP54956,SP54988 nsv912133 19 50087459 50174724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599159,nssv1573584 M 6533 0 2 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,CLPTM1,TOMM40 IS33455,IS41410 nsv912134 19 50087459 50220639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586082 S 6533 0 1 APOC1,APOC1P1,APOC2,APOC4,APOC4-APOC2,APOE,CLPTM1,RELB,TOMM40 IS37646 dgv3950n71 19 50100152 50107480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912135,nsv912139,nsv912137,nsv912138 M 6533 0 4 APOE SP54593,SP54672,SP54725,SP55019 nsv912136 19 50100676 50105714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511604 S 6533 0 1 APOE SP55021 nsv138296 19 50110835 50113137 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156874 M 24 APOC1 nsv912140 19 50126714 50143561 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518026 S 6533 1 0 APOC2,APOC4,APOC4-APOC2 SP57443 esv22789 19 50165112 50165859 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12248 S 451 0 2 CLPTM1 NA12749,NA19240 esv32608 19 50165453 50166427 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99623,essv99268 M 51 0 2 CLPTM1 22217,22275 dgv14e24 19 50174559 50175069 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750527,esv2750692,esv2750585,esv2750517,esv2750626,esv2750674,esv2750476,esv2750487,esv2750529,esv2750540,esv2750545,esv2750550,esv2750562,esv2750596,esv2750619,esv2750648,esv2750666,esv2750701,esv2750705,esv2750733,esv2750771,esv2750505 M 51 0 22 CLPTM1 21616,21634,21693,21721,21791,21847,21872,21879,21911,21932,21938,21939,22011,22075,22128,22233,22261,22275,22278,22286,22298,22371 nsv912141 19 50183014 50210940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510358 S 6533 0 1 CLPTM1,RELB SP54956 nsv828562 19 50188067 50188624 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440750 S 31 1 0 CLPTM1 NA18564 nsv912142 19 50261891 50400598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586083 S 6533 0 1 BLOC1S3,CLASRP,GEMIN7,LRRC68,NKPD1,TRAPPC6A,ZNF296 IS37646 esv27359 19 50280751 50287217 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10933 S 451 0 1 GEMIN7 NA11894 nsv833842 19 50285728 50376148 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454742 S 95 0 1 BLOC1S3,GEMIN7,LRRC68,NKPD1,TRAPPC6A nsv833843 19 50285728 50485522 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454744,nssv1454743,nssv1454748,nssv1454746,nssv1454747,nssv1454745,nssv1454749 M 95 0 7 BLOC1S3,EXOC3L2,GEMIN7,LRRC68,MARK4,NKPD1,TRAPPC6A nsv828563 19 50286431 50290008 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437135 S 31 1 0 GEMIN7,LRRC68 NA18542 nsv912143 19 50316143 50459054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530975,nssv1576787 M 6533 0 2 BLOC1S3,EXOC3L2,LRRC68,MARK4,NKPD1,TRAPPC6A IS34235,MS10311 nsv912144 19 50328159 50379286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510359 S 6533 0 1 BLOC1S3,LRRC68,NKPD1,TRAPPC6A SP54956 nsv522341 19 50331964 50356058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695120 S 2026 0 1 LRRC68,NKPD1 nsv520051 19 50351976 50356058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694361 S 2026 0 1 NKPD1 nsv828565 19 50367191 50367888 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422289 S 31 1 0 TRAPPC6A NA18997 esv1005203 19 50367652 50376708 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564845 S 3 0 1 BLOC1S3,TRAPPC6A HuRef esv2422482 19 50368545 50461645 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161521 S 181 1 0 BLOC1S3,EXOC3L2,MARK4,TRAPPC6A ND04274 esv29928 19 50373348 50373858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11492 S 451 0 1 BLOC1S3 NA12239 nsv833844 19 50376149 50579246 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454750 S 95 0 1 BLOC1S3,CKM,ERCC2,EXOC3L2,KLC3,MARK4,PPP1R13L esv1222023 19 50385906 50385906 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163552 S 2 1 0 "" HuRef nsv513530 19 50388838 50389319 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625944 S 1 1 0 "" 1 esv1275203 19 50388969 50388969 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182004 S 2 1 0 "" HuRef nsv912145 19 50400728 50512078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510360 S 6533 0 1 CKM,EXOC3L2,MARK4 SP54956 esv23015 19 50426733 50432224 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17219 S 451 1 0 EXOC3L2 NA12044 nsv912146 19 50480452 50554355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586084 S 6533 0 1 CKM,ERCC2,KLC3,MARK4 IS37646 nsv833845 19 50503912 50652469 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454751 S 95 0 1 CD3EAP,CKM,ERCC1,ERCC2,KLC3,PPP1R13L nsv912147 19 50507021 50522787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504928 S 6533 0 1 CKM SP52868 dgv3951n71 19 50508387 50519034 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912149,nsv912148 M 6533 0 2 CKM SP54726,SP80957 nsv912150 19 50508387 50522787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503585 S 6533 1 0 CKM SP52077 nsv912151 19 50510675 50515904 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505527 S 6533 0 1 CKM SP53601 dgv3952n71 19 50513023 50522787 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912152,nsv912153 M 6533 5 0 CKM SP54381,SP54442,SP54448,SP54620,SP54650 nsv470146 19 50518206 50568807 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546557 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERCC2,KLC3 HGDP01412 nsv458711 19 50518206 50603842 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535623 S 1557 1 0 CD3EAP,ERCC1,ERCC2,KLC3,PPP1R13L NINDS_116 esv1506901 19 50520244 50520244 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069761 S 2 1 0 "" HuRef dgv29n64 19 50529109 50568807 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817850,nsv817852 M 112 3 0 ERCC2,KLC3 NA07357,NA10863,NA12234 nsv442466 19 50542545 50583764 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ERCC2,KLC3,PPP1R13L nsv515681 19 50547984 50559099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664367,nssv686357,nssv675988 M 2026 0 3 ERCC2 nsv428365 19 50553125 50664187 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453716,nssv453718,nssv453717 M 62 1 2 CD3EAP,ERCC1,ERCC2,FOSB,PPP1R13L HGDP00462,HGDP00474,NA19257 nsv833846 19 50576103 50664187 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454752 S 95 0 1 CD3EAP,ERCC1,FOSB,PPP1R13L esv6828 19 50595854 50596185 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29269 S 1 0 1 PPP1R13L SJK nsv912154 19 50612636 50751204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592455 S 6533 0 1 ERCC1,FOSB,OPA3,PPM1N,RTN2,VASP IS39233 esv33485 19 50641706 50642298 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97111 S 51 1 0 "" 22075 nsv833848 19 50652470 50840037 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454754,nssv1454753 M 95 0 2 EML2,FOSB,GPR4,LOC100287177,MIR330,OPA3,PPM1N,RTN2,VASP nsv912155 19 50678730 50772115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576788 S 6533 0 1 OPA3,PPM1N,RTN2,VASP IS34235 nsv912156 19 50685408 50709959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511605 S 6533 0 1 PPM1N,RTN2,VASP SP55021 dgv3953n71 19 50689187 50706428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912158,nsv912157 M 6533 0 3 PPM1N,RTN2,VASP SP54725,SP54956,SP54988 nsv523694 19 50710980 50721994 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699501 S 2026 0 1 VASP nsv520061 19 50761879 50766057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697201 S 2026 0 1 OPA3 esv1941589 19 50789635 50790114 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539847 S 1 0 1 GPR4 NA18507 nsv912159 19 50825096 50894012 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530976 S 6533 0 1 EML2,GIPR,LOC100287177,MIR330,MIR642A,MIR642B,QPCTL,SNRPD2 MS10311 esv1315131 19 50843629 50843629 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181283 S 2 1 0 "" HuRef dgv3954n71 19 50872024 51037726 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912164,nsv912162,nsv912165,nsv912160 M 6533 0 5 DMPK,DMWD,FBXO46,GIPR,LOC388553,QPCTL,RSPH6A,SIX5,SNRPD2,SYMPK IS40492,MS11249,MS19267,MS19584,MS19771 dgv3955n71 19 50877990 50974343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912163,nsv912161 M 6533 0 4 DMPK,FBXO46,LOC388553,QPCTL,SIX5,SNRPD2 IS33669,IS35605,MS21020,MS21738 esv22434 19 50912263 50913209 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11722 S 451 0 1 FBXO46 NA12239 esv987735 19 50937263 50956210 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563845 S 3 0 1 LOC388553 HuRef nsv912166 19 50943608 51046169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530977 S 6533 0 1 DMPK,DMWD,LOC388553,RSPH6A,SIX5,SYMPK MS10311 dgv3956n71 19 50943608 51098538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912168,nsv912167 M 6533 0 2 DMPK,DMWD,FOXA3,IRF2BP1,LOC388553,MYPOP,RSPH6A,SIX5,SYMPK IS33684,MS18276 dgv3957n71 19 50958988 50995468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912169,nsv912171 M 6533 0 2 DMPK,DMWD,RSPH6A,SIX5 SP54988,SP55021 nsv912170 19 50959374 50984099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510362 S 6533 0 1 DMPK,DMWD,SIX5 SP54956 esv2465515 19 50969865 50972254 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311261 S 1 0 1 DMPK NA18507 nsv512584 19 50970437 50971572 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625194 S 1 0 1 DMPK 1 nsv828566 19 50975238 50975981 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437136 S 31 1 0 DMPK NA18542 nsv912172 19 51009433 51086913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547031 S 6533 0 1 FOXA3,IRF2BP1,MYPOP,RSPH6A,SYMPK MS17208 esv25340 19 51019028 51019579 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14654 S 451 1 0 SYMPK NA11995 nsv510770 19 51037007 51116532 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622753 S 4 0 1 FOXA3,IRF2BP1,MYPOP,NANOS2,SYMPK NA18994 nsv523029 19 51068057 51071487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698710 S 2026 0 1 FOXA3 dgv3958n71 19 51074585 51098538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912173,nsv912174 M 6533 0 2 IRF2BP1,MYPOP SP54956,SP54988 nsv2507 19 51090682 51125124 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4364 S 9 1 0 MYPOP,NANOS2 NA12878 nsv2508 19 51171349 51176350 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9856 S 9 1 0 "" NA18507 esv2543120 19 51178266 51181651 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223110 S 1 1 0 "" NA18507 nsv912175 19 51188633 51236151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530978 S 6533 0 1 CCDC61,IGFL4,MIR769,PGLYRP1 MS10311 esv25420 19 51190183 51190895 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17864 S 451 0 1 CCDC61 NA12239 nsv912176 19 51205023 51336467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557798 S 6533 1 0 CCDC61,IGFL3,IGFL4,MIR769,PGLYRP1 MS22886 nsv519520 19 51252350 51252533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696898 S 2026 0 1 "" nsv525917 19 51252350 51258501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702121 S 2026 0 1 "" nsv528826 19 51272994 51315848 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705500 S 2026 1 0 IGFL3 nsv2510 19 51284716 51308599 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4365 S 9 0 1 "" NA12878 nsv828567 19 51313235 51320202 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440751 S 31 0 1 IGFL3 NA18564 esv28290 19 51314420 51320101 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12501 S 451 0 5 IGFL3 NA12749,NA12878,NA18502,NA18861,NA18909 nsv498902 19 51314574 51320157 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585763 S 9 0 1 IGFL3 dgv591n67 19 51315885 51320165 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828568,nsv828569 M 31 0 2 IGFL3 NA18547,NA18997 nsv2511 19 51324988 51360184 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1457 S 9 1 0 IGFL2 NA19240 dgv3959n71 19 51328940 51382394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912178,nsv912177 M 6533 2 0 IGFL2 MS12003,MS15589 nsv912179 19 51328940 51446375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561056 S 6533 1 0 DKFZp434J0226,IGFL1,IGFL2 MS24808 nsv470147 19 51338776 51435798 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546558 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DKFZp434J0226,IGFL1,IGFL2 HGDP01182 nsv458713 19 51338776 51458819 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535624 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DKFZp434J0226,IGFL1,IGFL2 HGDP01182 esv1736178 19 51383033 51383033 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788759 S 2 1 0 "" HuRef nsv458714 19 51385102 51474446 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535625 S 1557 1 0 DKFZp434J0226,IGFL1 NINDS_133 nsv912180 19 51391455 51435085 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541992 S 6533 1 0 DKFZp434J0226,IGFL1 MS15589 dgv3960n71 19 51405469 51435085 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912182,nsv912181 M 6533 2 0 DKFZp434J0226,IGFL1 MS23174,SP51241 esv25133 19 51481475 51487592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10823,esv10643 M 451 0 2 "" NA12044,NA18916 nsv528813 19 51486111 51487724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705487 S 2026 0 1 "" esv2573837 19 51508693 51511334 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334959 S 1 0 1 HIF3A NA18507 nsv912183 19 51548855 51598837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543802 S 6533 0 1 PPP5C MS16153 nsv912184 19 51548855 51683141 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523424 S 6533 1 0 CCDC8,LOC100506012,PNMAL1,PPP5C SP54023 nsv912185 19 51567091 51617515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530979 S 6533 0 1 CCDC8,PPP5C MS10311 nsv138470 19 51584460 51584511 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157048 M 24 PPP5C nsv912186 19 51622687 51667007 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595570 S 6533 1 0 PNMAL1 IS40264 esv273314 19 51628127 51628212 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581188 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2451067 19 51633489 51636255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213769 S 1 0 1 "" NA18507 nsv512585 19 51633575 51636966 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625195 S 1 0 1 "" 1 esv1005137 19 51633812 51642489 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565493 S 3 0 1 "" HuRef esv1356105 19 51633896 51635311 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602678 S 2 0 1 "" HuRef esv2620801 19 51647510 51649192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255982 S 1 0 1 "" NA18507 esv2364161 19 51647885 51648454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981236 S 1 0 1 "" NA18507 esv6830 19 51647935 51648379 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29271 S 1 0 1 "" SJK esv1068998 19 51647947 51648274 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618023 S 2 0 1 "" HuRef esv24482 19 51648870 51654964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18622 S 451 0 1 "" NA18523 nsv442467 19 51650847 51653422 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv268178 19 51716744 51716829 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517475 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC100506012 NA11918 nsv527638 19 51741768 51753357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704107 S 2026 0 1 LOC100506012 nsv833849 19 51753928 51898157 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454755 S 95 0 1 CALM3,DACT3,GNG8,LOC100506012,LOC100506068,PRKD2,PTGIR dgv3961n71 19 51781925 51987492 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912188,nsv912187 M 6533 0 4 CALM3,DACT3,FKRP,GNG8,LOC100506012,LOC100506068,MIR320E,PRKD2,PTGIR,SLC1A5,STRN4 IS39233,MS10311,MS16153,MS17208 nsv828570 19 51832531 51847788 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434096 S 31 1 0 DACT3 NA18526 nsv912189 19 51869753 51920825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510364 S 6533 0 1 LOC100506068,MIR320E,PRKD2,STRN4 SP54956 nsv833850 19 51898382 52062150 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454758,nssv1454757,nssv1454756 M 95 0 3 AP2S1,FKRP,MIR320E,PRKD2,SLC1A5,SNAR-E,STRN4 esv1341540 19 51948476 51948476 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239186 S 2 1 0 FKRP HuRef esv1008167 19 51972934 51984815 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563496 S 3 0 1 SLC1A5 HuRef nsv912190 19 51974002 52033334 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513459 S 6533 1 0 AP2S1,SLC1A5,SNAR-E SP55765 esv1186343 19 52002906 52002906 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968333 S 2 1 0 "" HuRef esv22197 19 52030900 52032103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14369 S 451 0 2 "" NA18517,NA18909 nsv138519 19 52038581 52039656 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157097 M 24 AP2S1 nsv912191 19 52046363 52106826 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513460 S 6533 1 0 "" SP55765 nsv520664 19 52106826 52162376 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703982,nssv673709,nssv679226,nssv682492,nssv674747 M 2026 4 1 ARHGAP35 esv271344 19 52111458 52111797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514362 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv33665 19 52170612 52170998 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101247,essv93949,essv100945,essv94755,essv94079,essv94388,essv93053,essv95395,essv97414,essv101672,essv98984,essv92913,essv96742,essv95950,essv93495,essv94982,essv92623,essv96509,essv99316,essv97673,essv100252,essv100596,essv100358,essv98457,essv96409 M 51 0 25 ARHGAP35 21618,21634,21693,21791,21802,21808,21863,21872,21879,21909,21938,21939,22011,22127,22128,22231,22233,22261,22275,22278,22286,22298,22300,22352,22371 nsv912192 19 52190871 52253963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511090 S 6533 0 1 ARHGAP35,NPAS1,TMEM160 SP54988 esv2750638 19 52198852 52199555 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96020 S 51 1 0 ARHGAP35 22127 esv33386 19 52210608 52216464 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94499,essv93394 M 51 2 0 NPAS1 21932,22170 nsv912193 19 52210974 52253963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507490 S 6533 0 1 NPAS1,TMEM160 SP54672 esv2560518 19 52219657 52221471 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390071 S 1 0 1 NPAS1 NA18507 dgv15e24 19 52219854 52221741 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750482,esv2750741,esv2750756,esv2750752,esv2750522,esv2750512,esv2750486,esv2750504,esv2750535,esv2750554,esv2750565,esv2750569,esv2750570,esv2750584,esv2750587,esv2750615,esv2750639,esv2750652,esv2750668,esv2750680,esv2750685,esv2750688,esv2750698,esv2750704,esv2750708,esv2750717,esv2750726,esv2750729,esv2750734,esv2750764,esv2750765,esv2750721,esv2750559,esv2750769 M 51 34 0 NPAS1 21618,21634,21693,21721,21791,21802,21805,21808,21837,21863,21872,21879,21909,21911,21932,21938,21939,21944,22007,22011,22075,22127,22128,22170,22217,22231,22233,22275,22278,22286,22298,22300,22352,22371 esv1670372 19 52220114 52220581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122117 S 2 0 1 NPAS1 HuRef nsv2512 19 52230052 52261959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10191 S 9 1 0 NPAS1,TMEM160,ZC3H4 NA18956 dgv3962n71 19 52232699 52260843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912194,nsv912195 M 6533 0 2 NPAS1,TMEM160,ZC3H4 SP54725,SP54956 nsv833851 19 52253642 52403876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454760,nssv1454759 M 95 0 2 SAE1,ZC3H4 nsv833852 19 52329687 52502931 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454761 S 95 0 1 BBC3,CCDC9,MIR3190,MIR3191,PRR24,SAE1 nsv512586 19 52368933 52371127 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625196 S 1 0 1 SAE1 1 nsv912196 19 52407117 52487809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510366 S 6533 0 1 BBC3,CCDC9,MIR3190,MIR3191,PRR24 SP54956 dgv3963n71 19 52417090 52451713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912198,nsv912197 M 6533 0 2 BBC3,CCDC9,MIR3190,MIR3191 SP51109,SP55021 nsv819260 19 52424063 52427597 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419555 S 2 0 1 BBC3 AK1 esv26583 19 52424808 52427527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17975 S 451 0 1 BBC3 NA18511 nsv912199 19 52454967 52479427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511091 S 6533 0 1 CCDC9,PRR24 SP54988 esv26946 19 52490146 52495114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12275 S 451 0 1 "" NA18858 nsv912200 19 52504740 52583345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530981 S 6533 0 1 C5AR1,DHX34,GPR77 MS10311 dgv1107e1 19 52549596 52717317 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8135,essv15045,esv97,essv20062 M 271 0 0 DHX34,KPTN,LOC100505681,MEIS3,NAPA,SLC8A2,ZNF541 NA07048,NA19129,NA19206 nsv428366 19 52549596 52717317 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453721,nssv453719 M 62 0 2 DHX34,KPTN,LOC100505681,MEIS3,NAPA,SLC8A2,ZNF541 NA19113,NA19189 nsv912201 19 52550264 52629278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510367 S 6533 0 1 DHX34,MEIS3,SLC8A2 SP54956 nsv9738 19 52551366 52623000 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28562 S 31 1 0 Samples from several populations that are part of the HapMap project. DHX34,MEIS3 NA19221 nsv516890 19 52569010 52573346 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661635,nssv686223,nssv697775,nssv654727,nssv677946 M 2026 0 5 DHX34 nsv521341 19 52569010 52616611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697949 S 2026 1 0 DHX34,MEIS3 nsv517901 19 52569010 52640040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695310 S 2026 0 1 DHX34,MEIS3,SLC8A2 esv2479786 19 52613809 52615834 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366830 S 1 0 1 MEIS3 NA18507 nsv912202 19 52645983 52757676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530982 S 6533 0 1 KPTN,LOC100505681,NAPA,SLC8A2,ZNF541 MS10311 esv1055822 19 52658320 52658724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367352 S 2 0 1 SLC8A2 HuRef esv1000004 19 52660889 52668275 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564606 S 3 0 1 SLC8A2 HuRef esv2131971 19 52685363 52685771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755935 S 1 0 1 LOC100505681,NAPA NA18507 nsv138407 19 52685585 52685638 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156985 M 24 LOC100505681,NAPA nsv912203 19 52832669 52919511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500902 S 6533 1 0 EHD2,GLTSCR1 SP50725 nsv912204 19 52867487 52925939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559386 S 6533 1 0 EHD2,GLTSCR1 MS23942 nsv912205 19 52869181 52925939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573101,nssv1532532,nssv1584886 M 6533 0 3 EHD2,GLTSCR1 IS33239,IS37172,MS10769 nsv912206 19 52869181 52955447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543804,nssv1530983 M 6533 0 2 EHD2,GLTSCR1,GLTSCR2,SNORD23 MS10311,MS16153 nsv912207 19 52871600 52888310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511608 S 6533 0 1 GLTSCR1 SP55021 esv23734 19 52881801 52885019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18447 S 451 0 1 GLTSCR1 NA07037 dgv3964n71 19 52888310 52989040 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912209,nsv912208 M 6533 0 2 EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23 IS37646,MS17208 nsv521727 19 52890487 52897537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694487 S 2026 0 1 GLTSCR1 nsv912210 19 52893235 52993660 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532791 S 6533 1 0 EHD2,GLTSCR1,GLTSCR2,SEPW1,SNORD23 MS10843 nsv138164 19 52915040 52915790 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156742 M 24 EHD2 nsv912211 19 52925939 52977975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510368 S 6533 0 1 EHD2,GLTSCR2,SEPW1,SNORD23 SP54956 nsv912212 19 52956801 53014730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528073 S 6533 1 0 SEPW1,TPRX1 SP81119 nsv520703 19 52958342 52961906 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681139,nssv674369 M 2026 2 0 "" nsv482046 19 52973654 52979751 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558407 S 1 0 1 SEPW1 KB1 nsv520073 19 52973984 53002354 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694362 S 2026 1 0 SEPW1,TPRX1 nsv428367 19 52983968 53234728 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453725,nssv453732,nssv453736,nssv453733,nssv453723,nssv453726,nssv453730,nssv453729,nssv453737,nssv453735,nssv453722,nssv453728,nssv453724,nssv453727,nssv453734 M 62 2 13 BSPH1,CABP5,CRX,ELSPBP1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1,TPRX1 HGDP00450,HGDP00460,HGDP00467,HGDP00471,HGDP00473,HGDP00474,HGDP00476,HGDP01087,HGDP01094,NA18498,NA19108,NA19113,NA19181,NA19189,NA19257 nsv458715 19 52989040 53085854 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535626 S 1557 1 0 CRX,SULT2A1,TPRX1 NINDS_203 esv1223331 19 53044727 53044727 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992798 S 2 1 0 "" HuRef esv1006582 19 53063915 53066764 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565534 S 3 1 0 SULT2A1 HuRef nsv523319 19 53063945 53067510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699061 S 2026 0 1 SULT2A1 nsv912213 19 53069792 53093141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567257 S 6533 0 1 SULT2A1 IS31062 dgv3965n71 19 53069792 53109081 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912215,nsv912214 M 6533 0 2 SNAR-A12,SNAR-A13,SNAR-C1,SNAR-C2,SNAR-C5,SULT2A1 IS40299,IS40685 nsv2513 19 53070465 53175116 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1458,nssv6792,nssv4368,nssv10999,nssv2232 M 9 0 5 BSPH1,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1 NA12156,NA12878,NA15510,NA18555,NA19240 nsv828571 19 53072796 53094230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427949 S 31 0 1 SULT2A1 AK8 nsv509748 19 53080869 53154788 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619752,nssv618133,nssv621077 M 4 3 0 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SULT2A1 CHM,NA10860,NA15510 nsv178 19 53086420 53143430 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv178 S 1 0 1 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C4,SNAR-C5 NA15510 esv991047 19 53090673 53155464 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586466 S 3 1 0 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5 HuRef nsv9739 19 53096909 55338132 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24410,nssv28564,nssv26285,nssv27580,nssv24920,nssv25658,nssv22150,nssv24486,nssv27592,nssv25570,nssv22339,nssv27572,nssv28565,nssv25680,nssv25226,nssv22180,nssv24865,nssv26735,nssv24347,nssv27564,nssv27584,nssv24867,nssv24384,nssv24842,nssv24373,nssv26249,nssv28563,nssv24090,nssv26971,nssv25251,nssv26682,nssv25240,nssv26267,nssv26694,nssv25265,nssv26981,nssv25593,nssv24117,nssv22369 M 31 2 18 Samples from several populations that are part of the HapMap project. AKT1S1,ALDH16A1,AP2A1,ATF5,BAX,BCAT2,BCL2L12,BSPH1,C19orf73,C19orf76,CA11,CABP5,CARD8,CCDC114,CCDC155,CD37,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,CPT1C,CYTH2,DBP,DHDH,DKKL1,ELSPBP1,EMP3,FAM83E,FCGRT,FGF21,FLJ26850,FLT3LG,FTL,FUT1,FUT2,FUZ,GRIN2D,GRWD1,GYS1,HRC,HSD17B14,IL4I1,IRF3,IZUMO1,KCNA7,KCNJ14,KDELR1,LHB,LIG1,LIN7B,LMTK3,LOC100505812,LOC100506033,LOC100507003,MAMSTR,MED25,MIR150,MIR4324,MIR4749,MIR4750,MIR4751,NOSIP,NTF4,NTN5,NUCB1,NUP62,PIH1D1,PLA2G4C,PLEKHA4,PNKP,PPFIA3,PPP1R15A,PRMT1,PRR12,PRRG2,PTH2,PTOV1,RASIP1,RCN3,RPL13A,RPL13AP5,RPL18,RPS11,RRAS,RUVBL2,SCAF1,SEC1,SIGLEC11,SIGLEC16,SLC17A7,SLC6A16,SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5,SNAR-D,SNAR-G1,SNAR-G2,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,SNRNP70,SPACA4,SPHK2,SULT2B1,SYNGR4,TBC1D17,TEAD2,TMEM143,TRPM4,TSKS,TULP2,VRK3,ZNF114,ZNF473 NA07029,NA07048,NA10839,NA10863,NA12155,NA12740,NA12802,NA18502,NA18504,NA18537,NA18563,NA18564,NA18572,NA18853,NA18972,NA18975,NA19144,NA19221 esv28347 19 53098102 53155188 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10962,esv13050,esv12912,esv14551,esv13159,esv19231 M 451 3 10 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A12,SNAR-A13,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C4,SNAR-C5 NA06985,NA11931,NA12004,NA12044,NA12156,NA18502,NA18505,NA18511,NA18517,NA18916,NA19114,NA19129,NA19257 nsv2514 19 53104872 53122676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4366,nssv1459,nssv9556,nssv6793 M 9 4 0 SNAR-A1,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A2,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-C1,SNAR-C2,SNAR-C5 NA12156,NA12878,NA18507,NA19240 nsv2515 19 53136688 53174275 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3000,nssv2233,nssv6795,nssv10192,nssv11000,nssv4367,nssv9338,nssv1460,nssv6794,nssv5751 M 9 8 0 BSPH1,SNAR-A12,SNAR-A13,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C5 NA12156,NA12878,NA15510,NA18517,NA18555,NA18956,NA19129,NA19240 nsv180 19 53144775 53174275 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv180 S 1 1 0 BSPH1,SNAR-C1,SNAR-C2,SNAR-C3,SNAR-C5 NA15510 nsv833853 19 53177608 53379386 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454763,nssv1454762,nssv1454765,nssv1454764 M 95 0 4 BSPH1,CABP5,ELSPBP1,LIG1,PLA2G4C nsv912216 19 53186257 53278990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562608 S 6533 0 1 BSPH1,CABP5,ELSPBP1,PLA2G4C MS25674 esv34181 19 53204446 53611751 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CABP5,CARD8,CCDC114,ELSPBP1,EMP3,GRIN2D,KDELR1,LIG1,LOC100505812,PLA2G4C,SYNGR4,TMEM143,ZNF114 esv25290 19 53228579 53229099 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18281 S 451 0 1 CABP5 NA07045 esv2619667 19 53238403 53239167 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270400 S 1 1 0 CABP5 NA18507 nsv2516 19 53241784 53275738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7445 S 9 1 0 PLA2G4C NA12156 nsv2517 19 53287453 53306360 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1461 S 9 1 0 PLA2G4C NA19240 nsv912217 19 53361163 53400939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510369 S 6533 0 1 LIG1 SP54956 esv1261804 19 53382493 53382493 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903881 S 2 1 0 "" HuRef nsv525109 19 53386161 53394031 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701169 S 2026 0 1 "" nsv523716 19 53394031 53403288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699529 S 2026 0 1 CARD8 nsv912218 19 53394031 53435281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506691 S 6533 0 1 CARD8 SP54393 nsv458716 19 53403288 53434199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535627 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CARD8 HGDP01332 nsv469623 19 53404797 53555305 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649548 M 265 0 1 Samples from several populations that are part of the HapMap project. CARD8,CCDC114,EMP3,LOC100505812,TMEM143,ZNF114 esv8882 19 53437096 53458094 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31323 S 1 0 0 CARD8,LOC100505812 SJK nsv458717 19 53438493 53453236 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535628 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CARD8,LOC100505812 HGDP00734 nsv517364 19 53438493 53462379 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669244,nssv674165,nssv665779,nssv685163,nssv663283,nssv697563,nssv694547,nssv670651,nssv665391,nssv680146,nssv673400,nssv676860,nssv660833,nssv651819,nssv657240,nssv668728,nssv681332,nssv697950,nssv675700,nssv697501,nssv684357,nssv668510,nssv693338,nssv655116 M 2026 21 3 CARD8,LOC100505812 nsv833854 19 53445212 53619236 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454768,nssv1454767,nssv1454766 M 95 0 3 CARD8,CCDC114,EMP3,GRIN2D,KDELR1,LOC100505812,SYNGR4,TMEM143,ZNF114 esv269836 19 53474450 53475221 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516682 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF114 NA11881 nsv137963 19 53537359 53537411 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156541 M 24 TMEM143 dgv5e22 19 53537425 53537478 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array esv1778763,esv1423504 M 2 0 1 TMEM143 HuRef nsv912219 19 53568002 53712127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586086 S 6533 0 1 CYTH2,GRIN2D,GRWD1,KCNJ14,KDELR1,LMTK3,SYNGR4 IS37646 esv23564 19 53592305 53593439 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17247 S 451 1 0 GRIN2D NA12044 nsv828572 19 53594104 53692678 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435562 S 31 0 1 CYTH2,GRIN2D,GRWD1,KCNJ14,LMTK3 NA18942 nsv912220 19 53628618 53649309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501560 S 6533 0 1 GRIN2D,GRWD1 SP51109 nsv912221 19 53628618 53664241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511609 S 6533 0 1 GRIN2D,GRWD1,KCNJ14 SP55021 nsv912222 19 53628618 53712127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510370 S 6533 0 1 CYTH2,GRIN2D,GRWD1,KCNJ14,LMTK3 SP54956 esv25255 19 53637769 53639097 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12429 S 451 0 1 GRIN2D NA18511 nsv912223 19 53640582 53753536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592457 S 6533 0 1 CYTH2,GRWD1,KCNJ14,LMTK3,SULT2B1 IS39233 nsv518578 19 53670137 53705903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696022 S 2026 0 1 CYTH2,LMTK3 nsv817853 19 53705903 53769479 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417729 S 112 0 1 LMTK3,SULT2B1 NA19003 nsv510882 19 53721976 53772738 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621647 S 4 0 0 SULT2B1 NA15510 nsv828573 19 53743721 53745650 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427166,nssv1437137,nssv1434805 M 31 0 3 "" AK6,NA18542,NA18570 nsv518776 19 53745060 53745118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694273 S 2026 0 1 "" nsv507899 19 53761148 53767148 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619222 S 4 1 0 SULT2B1 NA10860 dgv3966n71 19 53786668 53894671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912226,nsv912224,nsv912229,nsv912230,nsv912233,nsv912232 M 6533 0 12 CA11,DBP,FAM83E,FUT2,NTN5,RPL18,SEC1,SPACA4,SPHK2,SULT2B1 IS33601,IS35007,IS37172,IS38176,IS39233,MS10311,MS10698,MS10769,MS13770,MS16315,MS18276,SP54956 nsv912225 19 53787877 53852067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543805 S 6533 0 1 CA11,DBP,FAM83E,RPL18,SEC1,SPACA4,SPHK2,SULT2B1 MS16153 dgv3967n71 19 53787877 53969954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912227,nsv912231 M 6533 0 2 CA11,DBP,FAM83E,FGF21,FUT1,FUT2,IZUMO1,MAMSTR,NTN5,RASIP1,RPL18,SEC1,SPACA4,SPHK2,SULT2B1 IS33504,IS37646 nsv912228 19 53788123 53802310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517030,nssv1505508,nssv1502646 M 6533 0 3 FAM83E,SPACA4,SULT2B1 SP51307,SP53583,SP57045 nsv138413 19 53792730 53799405 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156991 M 24 FAM83E,SULT2B1 nsv912234 19 53806195 53812246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499204 S 6533 0 1 FAM83E,RPL18 SP50159 esv1003432 19 53814191 53814711 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587244 S 3 1 0 RPL18,SPHK2 HuRef nsv912235 19 53852067 53903781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598148,nssv1572837,nssv1573239 M 6533 0 3 FUT2,NTN5,SEC1 IS33178,IS33248,IS41243 nsv912236 19 53852067 53925147 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572052 S 6533 1 0 FUT2,MAMSTR,NTN5,RASIP1,SEC1 IS32843 nsv521477 19 53868842 53888898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698089 S 2026 0 1 SEC1 nsv912237 19 53868842 53925147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567457 S 6533 0 1 FUT2,MAMSTR,RASIP1,SEC1 IS31082 nsv458719 19 53875517 53894671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535630 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FUT2,SEC1 HGDP00748 nsv912238 19 53875517 53936032 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590494 S 6533 1 0 FUT2,IZUMO1,MAMSTR,RASIP1,SEC1 IS38515 nsv442468 19 53881228 53897953 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FUT2 nsv912239 19 53888898 53933788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599713,nssv1565230 M 6533 0 2 FUT2,MAMSTR,RASIP1 IS30369,IS41774 dgv3968n71 19 53888898 53971424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912243,nsv912240 M 6533 0 5 FGF21,FUT1,FUT2,IZUMO1,MAMSTR,RASIP1 IS37172,IS37467,IS39233,MS16153,MS18276 nsv912241 19 53891727 53901038 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515162 S 6533 0 1 FUT2 SP56128 nsv516677 19 53894671 53902195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689720,nssv698023,nssv682574,nssv662274,nssv670099,nssv695842 M 2026 0 6 FUT2 nsv912242 19 53903781 53940452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510372 S 6533 0 1 IZUMO1,MAMSTR,RASIP1 SP54956 nsv912244 19 53936032 53980700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583370 S 6533 1 0 FGF21,FUT1,IZUMO1 IS36442 nsv833855 19 53945167 54144850 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454770,nssv1454769,nssv1454771,nssv1454772,nssv1454773,nssv1454774 M 95 0 6 BCAT2,DHDH,FGF21,FUT1,HSD17B14,NUCB1,PLEKHA4,PPP1R15A,TULP2 esv1114602 19 53953952 53953952 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859987 S 2 1 0 "" HuRef nsv912245 19 54012819 54108748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547034 S 6533 0 1 HSD17B14,NUCB1,PLEKHA4,PPP1R15A,TULP2 MS17208 esv1431206 19 54019306 54019306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698598 S 2 1 0 HSD17B14 HuRef esv2431202 19 54029155 54031025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191477 S 1 0 1 HSD17B14 NA18507 esv6750 19 54029508 54030601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29191 S 1 0 1 HSD17B14 SJK dgv3969n71 19 54034081 54123651 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912247,nsv912246 M 6533 2 0 NUCB1,PLEKHA4,PPP1R15A,TULP2 IS30352,IS39372 nsv833856 19 54042935 54181552 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454780,nssv1454781,nssv1454779,nssv1454778,nssv1454775,nssv1454777,nssv1454776 M 95 0 7 BAX,DHDH,FTL,GYS1,NUCB1,PLEKHA4,PPP1R15A,TULP2 nsv470148 19 54060655 54102003 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546559 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NUCB1,PLEKHA4,PPP1R15A,TULP2 HGDP01223 nsv138250 19 54098651 54098790 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156828 M 24 NUCB1 nsv833857 19 54109545 54341389 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454782 S 95 0 1 BAX,C19orf73,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,DHDH,FTL,GYS1,KCNA7,LHB,LIN7B,NTF4,NUCB1,PPFIA3,RUVBL2,SNAR-G1,SNAR-G2,SNRNP70 nsv518164 19 54116737 54139525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695585 S 2026 0 1 DHDH,NUCB1 nsv912248 19 54123651 54264359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586088 S 6533 0 1 BAX,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,DHDH,FTL,GYS1,KCNA7,LHB,NTF4,RUVBL2,SNAR-G1,SNAR-G2 IS37646 nsv521890 19 54130175 54147966 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694662 S 2026 1 0 DHDH dgv3970n71 19 54177570 54410360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912253,nsv912250,nsv912249 M 6533 0 3 C19orf73,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,GYS1,HRC,KCNA7,LHB,LIN7B,NTF4,PPFIA3,RUVBL2,SNAR-G1,SNAR-G2,SNRNP70,TRPM4 IS39233,MS16153,MS17208 nsv833859 19 54192078 54368335 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454783,nssv1454786,nssv1454788,nssv1454785,nssv1454787,nssv1454784 M 95 0 6 C19orf73,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,HRC,KCNA7,LHB,LIN7B,NTF4,PPFIA3,RUVBL2,SNAR-G1,SNAR-G2,SNRNP70,TRPM4 nsv912251 19 54199390 54279437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510373 S 6533 0 1 CGB,CGB1,CGB2,CGB5,CGB7,CGB8,KCNA7,LHB,NTF4,RUVBL2,SNAR-G1,SNAR-G2 SP54956 esv3491 19 54206818 54207173 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25932 S 1 0 1 Single Asian sample YH RUVBL2 YH esv22462 19 54210660 54251751 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18927 S 451 1 0 CGB,CGB1,CGB2,CGB5,CGB7,CGB8,LHB,RUVBL2,SNAR-G1,SNAR-G2 NA12239 nsv471416 19 54211050 54212159 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548218,nssv548216,nssv548217 M 3 LHB nsv912252 19 54216032 54332106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549992 S 6533 0 1 C19orf73,CGB,CGB1,CGB2,CGB5,CGB7,CGB8,KCNA7,LIN7B,NTF4,PPFIA3,SNAR-G1,SNAR-G2,SNRNP70 MS18276 nsv138420 19 54221622 54221928 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156998 M 24 "" dgv592n67 19 54224546 54250814 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828574,nsv828576 M 31 0 2 CGB1,CGB2,CGB5,CGB7,CGB8,SNAR-G1,SNAR-G2 NA18592,NA18947 nsv520785 19 54245944 54265250 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691940,nssv675408 M 2026 2 0 CGB7,KCNA7,NTF4 nsv912254 19 54252273 54331814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565231 S 6533 0 1 C19orf73,KCNA7,LIN7B,NTF4,PPFIA3,SNRNP70 IS30369 nsv912255 19 54252273 54367045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576789 S 6533 0 1 C19orf73,HRC,KCNA7,LIN7B,NTF4,PPFIA3,SNRNP70,TRPM4 IS34235 nsv912256 19 54255936 54298261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552801 S 6533 0 1 KCNA7,NTF4,SNRNP70 MS19630 nsv912257 19 54262498 54279437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502075 S 6533 0 1 KCNA7 SP51109 nsv828577 19 54264435 54265231 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434098 S 31 1 0 KCNA7 NA18526 esv1484746 19 54273764 54274070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915522 S 2 0 1 "" HuRef nsv912258 19 54286819 54367045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530985 S 6533 0 1 C19orf73,HRC,LIN7B,PPFIA3,SNRNP70,TRPM4 MS10311 dgv3971n71 19 54302201 54355601 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912260,nsv912259 M 6533 0 2 C19orf73,HRC,LIN7B,PPFIA3,SNRNP70,TRPM4 IS33504,IS40799 esv1011024 19 54309319 54312935 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564150 S 3 0 1 LIN7B HuRef nsv819445 19 54313706 54315085 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419250 S 2 1 0 C19orf73,PPFIA3 AK1 nsv470149 19 54324584 54350179 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546560 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HRC,PPFIA3 HGDP00298 nsv524235 19 54331814 54353839 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700125 S 2026 1 0 HRC,PPFIA3,TRPM4 esv1416468 19 54351663 54351733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124242 S 2 0 1 "" HuRef esv999596 19 54363579 54364625 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565231 S 3 1 0 TRPM4 HuRef esv2268034 19 54409112 54409750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959331 S 1 0 1 "" NA18507 dgv52n68 19 54481754 54651200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833861,nsv833860 M 95 0 5 ALDH16A1,CCDC155,CD37,DKKL1,LOC100507003,MIR4324,PIH1D1,PTH2,SLC17A7,SLC6A16,TEAD2 nsv912261 19 54513158 54761706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547036 S 6533 0 1 ALDH16A1,CCDC155,CD37,DKKL1,FCGRT,FLT3LG,LOC100507003,MIR150,NOSIP,PIH1D1,PTH2,RCN3,RPL13A,RPL13AP5,RPS11,SLC17A7,SLC6A16,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B,TEAD2 MS17208 nsv912262 19 54606508 54761706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592461,nssv1543808 M 6533 0 2 ALDH16A1,CCDC155,FCGRT,FLT3LG,LOC100507003,MIR150,NOSIP,PIH1D1,PTH2,RCN3,RPL13A,RPL13AP5,RPS11,SLC17A7,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B IS39233,MS16153 nsv912263 19 54607723 54626813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510374 S 6533 0 1 CCDC155,LOC100507003,PTH2,SLC17A7 SP54956 nsv138000 19 54609744 54609744 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156578 M 24 CCDC155 nsv912264 19 54622533 54719975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549993 S 6533 0 1 ALDH16A1,FCGRT,FLT3LG,LOC100507003,MIR150,PIH1D1,RPL13A,RPL13AP5,RPS11,SLC17A7,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B MS18276 esv1994168 19 54639040 54639498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793132 S 1 0 1 "" NA18507 esv1481405 19 54639198 54639343 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267932 S 2 0 1 "" HuRef nsv833862 19 54643858 54765745 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454815,nssv1454811,nssv1454816,nssv1454810,nssv1454797,nssv1454818,nssv1454796,nssv1454809,nssv1454814,nssv1454795,nssv1454794,nssv1454817,nssv1454801,nssv1454808,nssv1454813,nssv1454799,nssv1454800,nssv1454798,nssv1454803,nssv1454802,nssv1454812,nssv1454806,nssv1454807,nssv1454804,nssv1454805 M 95 0 25 ALDH16A1,FCGRT,FLT3LG,MIR150,NOSIP,PIH1D1,RCN3,RPL13A,RPL13AP5,RPS11,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B nsv2518 19 54647342 54660206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3001 S 9 1 0 ALDH16A1 NA18555 esv1432834 19 54656316 54656316 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283722 S 2 1 0 ALDH16A1 HuRef esv1208352 19 54656367 54656367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055558 S 2 1 0 ALDH16A1 HuRef esv1526018 19 54656436 54656436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145302 S 2 1 0 ALDH16A1 HuRef nsv499659 19 54656577 54656648 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586323 S 9 1 0 ALDH16A1 esv1213251 19 54658277 54658495 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004230 S 2 0 1 ALDH16A1 HuRef nsv912265 19 54666198 54761706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530986 S 6533 0 1 FCGRT,FLT3LG,MIR150,NOSIP,RCN3,RPL13A,RPL13AP5,RPS11,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B MS10311 nsv833863 19 54674246 54824785 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454819,nssv1454820 M 95 0 2 FCGRT,FLT3LG,MIR150,NOSIP,PRR12,PRRG2,RCN3,RPL13A,RPL13AP5,RPS11,SNORD32A,SNORD33,SNORD34,SNORD35A,SNORD35B nsv833864 19 54746859 54928888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454822,nssv1454823,nssv1454824,nssv1454821 M 95 4 0 BCL2L12,C19orf76,CPT1C,IRF3,NOSIP,PRMT1,PRR12,PRRG2,RRAS,SCAF1 nsv828578 19 54755846 54875617 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435564 S 31 0 1 BCL2L12,IRF3,NOSIP,PRMT1,PRR12,PRRG2,RRAS,SCAF1 NA18942 nsv469715 19 54767613 54925355 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649736 M 265 1 23 Samples from several populations that are part of the HapMap project. BCL2L12,C19orf76,CPT1C,IRF3,NOSIP,PRMT1,PRR12,PRRG2,RRAS,SCAF1 nsv833865 19 54767614 54925355 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454827,nssv1454826,nssv1454825,nssv1454829,nssv1454828 M 95 1 4 BCL2L12,C19orf76,CPT1C,IRF3,NOSIP,PRMT1,PRR12,PRRG2,RRAS,SCAF1 nsv912266 19 54778618 54852903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510375 S 6533 0 1 PRR12,PRRG2,RRAS,SCAF1 SP54956 dgv3972n71 19 54783610 54921456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912267,nsv912268 M 6533 0 2 BCL2L12,C19orf76,CPT1C,IRF3,PRMT1,PRR12,PRRG2,RRAS,SCAF1 MS17208,MS18276 nsv912269 19 54783610 55106529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530987 S 6533 0 1 AKT1S1,AP2A1,BCL2L12,C19orf76,CPT1C,FUZ,IL4I1,IRF3,LOC100506033,MED25,MIR4749,MIR4750,NUP62,PNKP,PRMT1,PRR12,PRRG2,PTOV1,RRAS,SCAF1,TBC1D17,TSKS MS10311 nsv817854 19 54813890 54921456 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417699 S 112 1 0 BCL2L12,C19orf76,CPT1C,IRF3,PRMT1,PRR12,RRAS,SCAF1 NA18999 nsv470150 19 54813890 55051858 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546561 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AP2A1,BCL2L12,C19orf76,CPT1C,FUZ,IRF3,LOC100506033,MED25,MIR4749,PRMT1,PRR12,PTOV1,RRAS,SCAF1,TSKS HGDP00599 esv21818 19 54818738 54819793 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12112 S 451 1 0 PRR12 NA12044 dgv3973n71 19 54840204 54858462 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912270,nsv912271 M 6533 0 2 IRF3,SCAF1 SP54725,SP54967 esv24796 19 54871783 54872263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11886 S 451 0 1 PRMT1 NA12239 nsv7308 19 54882709 54888661 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10193 S 9 0 0 C19orf76,CPT1C,PRMT1 NA18956 esv1580543 19 54896123 54896123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834737 S 2 1 0 CPT1C HuRef esv1209349 19 54896927 54896927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644771 S 2 1 0 CPT1C HuRef dgv53n68 19 54919462 55138293 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833866,nsv833867 M 95 0 17 AKT1S1,AP2A1,ATF5,FUZ,IL4I1,LOC100506033,MED25,MIR4749,MIR4750,MIR4751,NUP62,PNKP,PTOV1,TBC1D17,TSKS esv2483638 19 54925601 54928400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202220 S 1 0 1 "" NA18507 esv269069 19 54941263 54941348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516002 S 157 1 0 Samples from several populations that are part of the HapMap project. TSKS NA12873 esv26817 19 54961457 54961912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19912 S 451 0 1 "" NA12239 nsv912272 19 54967944 55069569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547038,nssv1576790 M 6533 0 2 AKT1S1,AP2A1,FUZ,LOC100506033,MED25,MIR4749,PNKP,PTOV1 IS34235,MS17208 nsv524546 19 54981671 54987957 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700497 S 2026 0 1 AP2A1 nsv518114 19 54984922 54987957 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695528 S 2026 0 1 AP2A1 dgv3974n71 19 55040710 55091906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912274,nsv912273 M 6533 0 2 AKT1S1,IL4I1,LOC100506033,MIR4749,MIR4750,PNKP,PTOV1,TBC1D17 SP54956,SP54988 dgv54n68 19 55043581 55203857 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833868,nsv833871 M 95 0 3 AKT1S1,ATF5,IL4I1,LOC100506033,MIR4749,MIR4750,MIR4751,NUP62,PNKP,PTOV1,SIGLEC11,SIGLEC16,TBC1D17,VRK3 nsv524534 19 55048976 55051858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700484 S 2026 0 1 MIR4749,PTOV1 nsv526372 19 55048976 55072670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702668 S 2026 0 1 AKT1S1,MIR4749,PNKP,PTOV1,TBC1D17 nsv524068 19 55048976 55092860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699936 S 2026 0 1 AKT1S1,IL4I1,MIR4749,MIR4750,PNKP,PTOV1,TBC1D17 nsv2519 19 55066103 55085537 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7446 S 9 0 1 AKT1S1,IL4I1,MIR4750,TBC1D17 NA12156 nsv138068 19 55070363 55070434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156646 M 24 AKT1S1 esv996372 19 55098024 55103283 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564354 S 3 0 1 IL4I1,NUP62 HuRef nsv458720 19 55110547 55152726 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535631 S 1557 1 0 ATF5,IL4I1,MIR4751,NUP62,SIGLEC11 NINDS_67 nsv7309 19 55115479 55166106 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1462,nssv5752 M 9 0 0 ATF5,IL4I1,MIR4751,NUP62,SIGLEC11,SIGLEC16 NA19129,NA19240 esv24527 19 55137612 55138851 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19710 S 451 0 1 "" NA18858 esv2751796 19 55190200 55477198 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987270,essv6985811,essv6985812,essv6985813 M 771 1 0 FLJ26850,IZUMO2,MYH14,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,VRK3,ZNF473 SPC_56 esv29129 19 55199999 55201064 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12651 S 451 0 1 VRK3 NA19129 nsv819518 19 55201411 55203440 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419369 S 2 1 0 VRK3 AK1 nsv458722 19 55216038 55255711 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535632 S 1557 1 0 FLJ26850,VRK3,ZNF473 1780862432_A nsv469748 19 55228821 55344796 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649769 M 265 5 2 Samples from several populations that are part of the HapMap project. FLJ26850,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,ZNF473 dgv1108e1 19 55228822 55344796 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3278,essv21273,essv675,essv5279,essv5199,essv8448,essv3004,essv17614,essv2620,essv60,essv14855,essv14490,essv18074,essv4455,essv7760,essv2458,essv15841,essv23784,essv10390,essv20428,essv7128,essv23255,essv4052,essv4770,essv12284,essv24049,essv13205,essv22578,essv7164,essv18643,essv8737,essv8195,essv13594,essv895,essv22981,essv21667,essv15772,essv10012,essv1280,essv5391,essv18830,essv6599,essv20801,essv16401,essv4919,essv7273,essv23474,essv9455,essv23659,essv1746,essv24877,essv3482,essv6691,essv11043,essv16992,essv24401,essv6398,essv1837,essv22042,essv19617,essv20053,essv14696,essv20248,essv5154,essv4227,essv15028,essv22917,essv5529,essv14426,essv6159,essv20357,essv14983,essv4631,essv9917,essv6334,essv19407,esv101,essv9254,essv8623,essv16505,essv19284,essv4952,essv20891,essv9349,essv24497,essv4414,essv13880,essv12367,essv23018,essv6918,essv7721,essv16341,essv21040,essv25009,essv19682,essv4718,essv5745,essv11138,essv15358,essv7573,essv19563,essv9776,essv14271,essv9665,essv17893,essv18283,essv18700,essv14623,essv23531,essv6952,essv1458,essv5497,essv3385,essv11875,essv22824,essv23128,essv243,essv14159,essv12579,essv17588,essv10225,essv21463,essv3162,essv767,essv6837,essv2170,essv16247,essv3767,essv23594,essv11925,essv1154,essv20138,essv2251,essv19926,essv8116,essv22181,essv17847 M 271 0 0 FLJ26850,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,ZNF473 NA06991,NA06993,NA07000,NA07029,NA07034,NA07048,NA07345,NA07348,NA07357,NA10830,NA10831,NA10838,NA10839,NA10846,NA10855,NA10859,NA10863,NA11840,NA12003,NA12004,NA12006,NA12044,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12236,NA12248,NA12264,NA12707,NA12717,NA12751,NA12753,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12864,NA12874,NA12891,NA18502,NA18516,NA18522,NA18529,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18561,NA18563,NA18564,NA18572,NA18573,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18637,NA18853,NA18854,NA18862,NA18863,NA18870,NA18913,NA18944,NA18945,NA18948,NA18956,NA18960,NA18961,NA18964,NA18966,NA18972,NA18975,NA18976,NA18981,NA18990,NA18991,NA18992,NA18995,NA18997,NA18999,NA19000,NA19012,NA19092,NA19093,NA19098,NA19099,NA19101,NA19102,NA19116,NA19127,NA19128,NA19129,NA19131,NA19138,NA19139,NA19140,NA19143,NA19144,NA19145,NA19152,NA19159,NA19161,NA19193,NA19194,NA19201,NA19202,NA19206,NA19208,NA19210,NA19211,NA19221,NA19222,NA19223,NA19239 nsv428369 19 55228822 55462387 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453747,nssv453745,nssv453759,nssv453758,nssv453756,nssv453744,nssv453751,nssv453750,nssv453738,nssv453754,nssv453741,nssv453743,nssv453749,nssv453746,nssv453757,nssv453740,nssv453752,nssv453739,nssv453755,nssv453748 M 62 0 20 FLJ26850,IZUMO2,MYH14,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D,ZNF473 HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00473,HGDP00474,HGDP00476,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189 nsv458723 19 55233955 55249688 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535633 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ26850,ZNF473 HGDP00918 esv2571711 19 55246058 55253846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246605 S 1 0 1 FLJ26850 NA18507 esv24005 19 55246629 55253468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15280 S 451 0 4 FLJ26850 NA18502,NA18907,NA19114,NA19129 esv2527889 19 55249188 55252266 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345450 S 1 0 1 FLJ26850 NA18507 esv33440 19 55250216 55252940 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95971,essv94930 M 51 0 2 FLJ26850 22127,22231 nsv2523 19 55260473 55297519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2234,nssv10195,nssv5753,nssv1463 M 9 4 0 FLJ26850,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 NA18555,NA18956,NA19129,NA19240 nsv2524 19 55264627 55313639 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10194 S 9 0 1 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 NA18956 nsv509749 19 55274016 55337024 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623763,nssv621078 M 4 2 0 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D NA15510,NA18994 esv24726 19 55284756 55335308 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20756,esv17352 M 451 1 11 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D NA06985,NA11931,NA12004,NA12044,NA12156,NA18502,NA18505,NA18511,NA18907,NA18916,NA19114,NA19129 nsv820746 19 55284756 55339801 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420060 S 1 0 1 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D NA10851 nsv514900 19 55295168 55296256 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627194 S 1414 0 0 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 nsv2525 19 55309273 55313987 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9339 S 9 1 0 SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9 NA18517 dgv3975n71 19 55321846 55428768 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912275,nsv912276 M 6533 2 0 IZUMO2,MYH14,SNAR-A10,SNAR-A11,SNAR-A14,SNAR-A3,SNAR-A4,SNAR-A5,SNAR-A6,SNAR-A7,SNAR-A8,SNAR-A9,SNAR-B1,SNAR-B2,SNAR-D IS40759,SP52518 nsv2526 19 55328405 55350814 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2235,nssv9557,nssv4369,nssv9340,nssv6797,nssv6798,nssv1464 M 9 6 0 IZUMO2,SNAR-B1,SNAR-B2,SNAR-D NA12156,NA12878,NA18507,NA18517,NA18555,NA19240 esv32841 19 55344029 55346308 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95747 S 51 0 1 "" 21841 nsv2527 19 55362010 55395249 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2236 S 9 1 0 "" NA18555 nsv523948 19 55373590 55549635 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699795 S 2026 1 0 KCNC3,MYH14,NAPSB nsv912277 19 55389699 55488717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530988 S 6533 0 1 MYH14 MS10311 esv1752526 19 55421266 55421563 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309285 S 2 0 1 MYH14 HuRef nsv912278 19 55437220 55507855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547039 S 6533 0 1 MYH14 MS17208 nsv2528 19 55445403 55498308 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9558 S 9 0 1 MYH14 NA18507 dgv3976n71 19 55507855 55644865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912280,nsv912279 M 6533 0 2 KCNC3,MYBPC2,NAPSA,NAPSB,NR1H2,POLD1,SPIB IS37646,SP54956 nsv2529 19 55531721 55563576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5754 S 9 1 0 NAPSA,NAPSB NA19129 nsv912281 19 55547761 55631549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543809,nssv1549995 M 6533 0 2 MYBPC2,NAPSA,NR1H2,POLD1,SPIB MS16153,MS18276 nsv912282 19 55547761 55721414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532534 S 6533 0 1 ASPDH,C19orf63,FAM71E1,JOSD2,LRRC4B,MYBPC2,NAPSA,NR1H2,POLD1,SPIB MS10769 esv1338683 19 55634691 55634765 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995149 S 2 0 1 MYBPC2 HuRef nsv509750 19 55638147 55735426 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619753 S 4 1 0 ASPDH,C19orf63,FAM71E1,JOSD2,LRRC4B,MYBPC2 NA10860 nsv912283 19 55649416 55710629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501666 S 6533 1 0 ASPDH,C19orf63,FAM71E1,JOSD2,MYBPC2 SP51049 esv2480946 19 55687912 55688228 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236492 S 1 1 0 "" NA18507 esv990412 19 55688721 55688721 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575089 S 3 1 0 "" HuRef esv1142191 19 55688722 55688722 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110952 S 2 1 0 "" HuRef nsv912284 19 55696566 55765344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547040 S 6533 0 1 ASPDH,JOSD2,LRRC4B MS17208 esv994565 19 55737348 55739576 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565037 S 3 0 1 LRRC4B HuRef nsv2530 19 55748319 55793486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7447 S 9 0 1 LRRC4B NA12156 esv991572 19 55768381 55774898 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563773 S 3 0 1 "" HuRef esv29544 19 55769690 55774043 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20667 S 451 0 14 "" NA11894,NA11993,NA12006,NA12156,NA12287,NA12414,NA12878,NA15510,NA18502,NA18517,NA19108,NA19129,NA19240,NA19257 esv9254 19 55769705 55774348 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31695 S 1 0 1 "" SJK nsv828579 19 55769972 55772929 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437138,nssv1430818,nssv1427167,nssv1434099,nssv1430254,nssv1433351,nssv1425427,nssv1423043 M 31 0 8 "" AK14,AK2,AK6,NA18526,NA18542,NA18552,NA18968,NA18972 nsv828580 19 55769972 55776062 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440753 S 31 0 1 "" NA18564 esv2528317 19 55783713 55785385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171579 S 1 0 1 "" NA18507 esv2044092 19 55784011 55784934 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895259 S 1 0 1 "" NA18507 nsv512587 19 55797572 55801663 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625197 S 1 0 1 SNAR-F 1 esv25869 19 55797954 55803638 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16242,esv20094,esv19700 M 451 0 7 SNAR-F NA07045,NA12044,NA12156,NA12287,NA12489,NA18858,NA19225 nsv828581 19 55801384 55816528 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430840 S 31 0 1 "" NA18968 esv33810 19 55802063 55816357 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94421,essv95531,essv95788,essv97114,essv95023 M 51 1 4 "" 21808,21847,21911,22075,22231 esv1317437 19 55815006 55815064 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103860 S 2 0 1 "" HuRef esv33599 19 55816357 55819582 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97610 S 51 0 1 SYT3 21616 esv1959087 19 55820647 55821086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619246 S 1 0 1 SYT3 NA18507 esv1000559 19 55820805 55820878 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569848 S 3 0 1 SYT3 HuRef esv1394478 19 55820854 55820928 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173091 S 2 0 1 SYT3 HuRef esv32592 19 55824555 55825906 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93253 S 51 1 0 SYT3 22170 esv1217472 19 55824800 55824800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008472 S 2 1 0 SYT3 HuRef nsv828582 19 55832561 55834543 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423872 S 31 0 1 SYT3 NA18999 nsv828583 19 55832564 55941649 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435565 S 31 0 1 C19orf81,CLEC11A,SHANK1,SYT3 NA18942 nsv912285 19 55833298 55928646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593169 S 6533 0 1 C19orf81,CLEC11A,SHANK1,SYT3 IS39363 nsv828584 19 55834459 55835301 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437139 S 31 0 1 SYT3 NA18542 nsv912286 19 55851001 55901761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510378 S 6533 0 1 C19orf81,SHANK1 SP54956 nsv912287 19 55909362 55946362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510379 S 6533 0 1 CLEC11A,SHANK1 SP54956 esv26629 19 55946455 55966891 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10221,esv14094 M 451 1 1 GPR32 NA11995,NA19114 nsv442469 19 55949062 55957853 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817855 19 55952801 55955322 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415923,nssv1415924 M 112 2 0 "" NA10861,NA11995 nsv517376 19 55952801 55972568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681781,nssv666694,nssv670754,nssv692313,nssv667682,nssv676550,nssv692514,nssv651844,nssv702230,nssv690724,nssv657536,nssv676639 M 2026 0 12 GPR32 dgv3977n71 19 55975603 56036295 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912289,nsv912290,nsv912288 M 6533 0 5 ACPT,C19orf48,KLK1,KLK15,MGC45922,SNORD88A,SNORD88B,SNORD88C IS39233,MS10311,MS16153,MS17208,MS18276 dgv203n21 19 55993042 56027755 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526232,nsv519121 M 2026 0 2 C19orf48,KLK1,KLK15,MGC45922,SNORD88A,SNORD88B,SNORD88C esv23493 19 56006371 56007486 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14669 S 451 1 0 "" NA18511 esv1651308 19 56006929 56006929 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680279 S 2 1 0 "" HuRef nsv516450 19 56012895 56014124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668477,nssv679298 M 2026 0 2 MGC45922 dgv204n21 19 56012895 56028009 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524637,nsv523089 M 2026 0 2 KLK1,KLK15,MGC45922 esv2422090 19 56022744 56025050 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5069548,essv5130291,essv5075633,essv5102529,essv5124834,essv5093494,essv5006250,essv5069697,essv5095684,essv5110688,essv5081200,essv5066885,essv5065779,essv5083651,essv5135508,essv5128806,essv5011358,essv5134283,essv5108808,essv5126435,essv5068479,essv5131561,essv5059268,essv5042856,essv5007171,essv5103037,essv5046281,essv5013399,essv5031658,essv5075231,essv5008397,essv5018564,essv5030924,essv5090923,essv5127839,essv5022988,essv5054365,essv5148291 M 1184 0 38 KLK15 NA12272,NA12342,NA12343,NA12386,NA12400,NA12832,NA12877,NA12890,NA18995,NA19307,NA19316,NA19327,NA19373,NA19374,NA19652,NA19657,NA19659,NA19663,NA19678,NA19680,NA19684,NA19686,NA19915,NA20510,NA20515,NA20519,NA20775,NA20778,NA20803,NA20807,NA20819,NA20826,NA21111,NA21333,NA21390,NA21494,NA21583,NA21682 nsv515608 19 56022744 56028151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688635,nssv661493,nssv691261,nssv678773,nssv667898,nssv685909,nssv680670,nssv693312,nssv686448,nssv670818,nssv651898,nssv672469,nssv677593,nssv679799,nssv692297,nssv693463,nssv652533,nssv667845,nssv691769,nssv676551,nssv692492,nssv667445,nssv675409,nssv682845 M 2026 0 24 KLK15 nsv2531 19 56025440 56070409 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7448 S 9 0 1 KLK15,KLK2,KLK3 NA12156 esv1444940 19 56034084 56034206 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923293 S 2 0 1 "" HuRef nsv524465 19 56051899 56055210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700399 S 2026 0 1 KLK3 esv1010987 19 56070817 56071522 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586822 S 3 0 1 KLK2 HuRef nsv511623 19 56092587 56100654 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626256 S 1 0 1 "" 1 esv1010378 19 56092956 56095063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565169 S 3 0 1 "" HuRef esv27133 19 56098419 56099818 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18371 S 451 4 5 "" NA06985,NA12044,NA12239,NA12749,NA18517,NA18909,NA19099,NA19147,NA19240 nsv821568 19 56098419 56099818 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420061 S 1 0 1 "" NA10851 nsv512588 19 56098430 56100158 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625198 S 1 0 1 "" 1 esv1709160 19 56098589 56100165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203922 S 2 0 1 "" HuRef nsv138426 19 56098662 56100237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157004 M 24 "" esv989477 19 56098754 56099818 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586667 S 3 0 1 "" HuRef esv1633192 19 56101789 56101856 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120299 S 2 0 1 KLK4 HuRef esv21452 19 56108625 56109760 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10112 S 451 0 1 "" NA18511 esv1004962 19 56133536 56136466 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564008 S 3 0 1 "" HuRef esv2310946 19 56149154 56149802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986140 S 1 0 1 "" NA18507 esv24846 19 56151332 56153219 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16640 S 451 0 1 "" NA15510 nsv513532 19 56175420 56176511 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625946 S 1 1 0 KLK7 1 esv1738203 19 56177914 56178263 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914180 S 2 0 0 KLK7 HuRef nsv912291 19 56197537 56229494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592463 S 6533 0 1 KLK10,KLK11,KLK12,KLK9 IS39233 esv29146 19 56201266 56202928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10043 S 451 0 1 KLK9 NA12006 esv23312 19 56237191 56239141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9749 S 451 0 1 "" NA11931 nsv527850 19 56237863 56238454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704348 S 2026 0 1 "" esv1132191 19 56241449 56241512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752831 S 2 0 1 "" HuRef nsv828585 19 56253689 56254200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426278 S 31 0 1 KLK13 AK4 nsv524556 19 56257787 56263880 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700510 S 2026 1 0 KLK13 esv34104 19 56257982 56333487 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CTU1,KLK13,KLK14,SIGLEC9 nsv819004 19 56258749 56261215 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419432 S 2 1 0 KLK13 AK1 nsv520705 19 56265850 56267236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694050 S 2026 0 1 "" nsv912292 19 56279455 56320341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575209 S 6533 0 1 CTU1,SIGLEC9 IS33684 nsv912293 19 56287948 56306273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507577 S 6533 0 1 CTU1 SP54591 nsv519982 19 56442050 56449939 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659898,nssv683924,nssv659871 M 2026 0 3 "" nsv518134 19 56442050 56457765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695551 S 2026 0 1 C19orf75 nsv819924 19 56463551 56464057 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418975 S 2 0 1 C19orf75 AK1 esv997576 19 56468219 56468991 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564387 S 3 0 1 "" HuRef nsv138271 19 56468220 56468530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156849 M 24 "" nsv912294 19 56536790 56570653 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530255 S 6533 1 0 CLDND2,ETFB,NKG7,VSIG10L MS10283 esv2296440 19 56540978 56541512 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693547 S 1 0 1 ETFB NA18507 esv1441812 19 56548684 56548758 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056809 S 2 0 1 ETFB HuRef esv1016811 19 56548991 56548991 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151940 S 2 1 0 ETFB HuRef esv21876 19 56583110 56584630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14170 S 451 0 2 LOC147646 NA19129,NA19147 nsv458724 19 56617331 56667535 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535634 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SIGLEC8 HGDP01047 dgv1109e1 19 56683708 56958512 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17487,essv10047,essv4577,essv7093,essv13598,essv4234,essv13837,essv3197,essv374,essv4800 M 271 0 0 FLJ30403,FPR1,FPR2,HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,ZNF175 NA12762,NA18524,NA18537,NA18603,NA18620,NA18854,NA18971,NA18974,NA19099,NA19127 esv638 19 56683708 57296437 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FLJ30403,FPR1,FPR2,FPR3,HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,ZNF175,ZNF350,ZNF432,ZNF577,ZNF613,ZNF614,ZNF615,ZNF649,ZNF841 nsv469584 19 56693193 56843633 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649698 M 265 0 0 Samples from several populations that are part of the HapMap project. FLJ30403,SIGLEC12,SIGLEC14,SIGLEC5,SIGLEC6,ZNF175 esv33175 19 56693910 56702651 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99206 S 51 1 0 SIGLEC12 22275 esv268778 19 56775117 56775355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518092 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF175 NA12872 dgv1110e1 19 56783548 56958512 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6589,essv23862,essv7000,essv23869,essv5456 M 271 0 0 FLJ30403,FPR1,FPR2,HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E,SIGLEC14,SIGLEC5,ZNF175 NA07022,NA12814,NA18612,NA18621,NA18632 nsv9740 19 56788043 56798833 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27794,nssv23915,nssv25257,nssv25290,nssv24399,nssv27600,nssv24945 M 31 6 1 Samples from several populations that are part of the HapMap project. FLJ30403 NA10839,NA18563,NA18860,NA18942,NA18972,NA18975,NA19007 nsv510771 19 56795529 56845160 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620121,nssv622754 M 4 0 2 SIGLEC14,SIGLEC5 NA15510,NA18994 nsv2532 19 56800917 56878758 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5755,nssv7449,nssv9559,nssv10196,nssv11001,nssv4370 M 9 0 6 SIGLEC14,SIGLEC5 NA12156,NA12878,NA15510,NA18507,NA18956,NA19129 nsv181 19 56804935 56854345 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv181 S 1 0 1 SIGLEC14,SIGLEC5 NA15510 nsv912295 19 56811358 56843829 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542342 S 6533 1 0 SIGLEC14,SIGLEC5 MS15752 nsv458725 19 56815361 56847261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535635 S 1557 0 1 SIGLEC14,SIGLEC5 NINDS_88 dgv424n27 19 56819556 56822931 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458728,nsv458732,nsv458730,nsv458726,nsv458731,nsv458727 M 1557 0 6 SIGLEC5 HGDP00456,HGDP00463,HGDP00474,HGDP00478,HGDP00984,HGDP01081 nsv2534 19 56820403 56833648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2238 S 9 1 0 SIGLEC5 NA18555 dgv593n67 19 56823561 56840915 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828591,nsv828593,nsv828590,nsv828599,nsv828588,nsv828589,nsv828595,nsv828597,nsv828600,nsv828596,nsv828594,nsv828592 M 31 0 27 SIGLEC14,SIGLEC5 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997 esv27396 19 56823616 56842035 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20603 S 451 0 14 SIGLEC14,SIGLEC5 NA06985,NA11931,NA11995,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18907,NA19099,NA19114,NA19129 nsv9741 19 56824136 56844329 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24503,nssv25754,nssv25639,nssv26746,nssv27654,nssv25382,nssv27608,nssv24477,nssv24995,nssv25276,nssv25776,nssv24451,nssv25070,nssv24970,nssv25045,nssv25616,nssv25357,nssv24143,nssv27646,nssv24425,nssv27801,nssv25332,nssv27443,nssv24529,nssv25897,nssv22210,nssv25876,nssv26757,nssv23942,nssv25020,nssv25732,nssv25662,nssv22399,nssv25307,nssv25406,nssv25282 M 31 0 16 Samples from several populations that are part of the HapMap project. SIGLEC14,SIGLEC5 NA07029,NA12155,NA12740,NA12802,NA18537,NA18563,NA18564,NA18572,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173 esv2516533 19 56824187 56842170 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220647 S 1 0 1 SIGLEC14,SIGLEC5 NA18507 dgv30n47 19 56825580 56842035 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498904,nsv498903 M 9 0 2 SIGLEC14 esv32724 19 56825823 56840373 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101481,essv97534,essv101226,essv93801,essv100974,essv95165,essv94736,essv94113,essv101376,essv95530,essv97367,essv101635,essv95843,essv94599,essv92893,essv92761,essv96614,essv96003,essv93365,essv99742,essv94866,essv92518,essv98061,essv96547,essv99285,essv97652,essv100488,essv100411,essv99504,essv94247 M 51 30 0 SIGLEC14 21603,21616,21618,21634,21693,21721,21791,21802,21805,21847,21879,21909,21911,21932,21939,21944,22011,22127,22170,22217,22231,22233,22259,22261,22275,22278,22298,22300,22335,22394 esv2571166 19 56826751 56840020 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322705 S 1 0 1 SIGLEC14 NA18507 esv273454 19 56827207 56827292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581059 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv594n67 19 56831678 56837681 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828601,nsv828605,nsv828603,nsv828602,nsv828604 M 31 0 5 SIGLEC14 AK4,AK6,NA18547,NA18942,NA18947 dgv4e195 19 56832974 56840616 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array esv2421396,esv2421562 M 1184 29 589 SIGLEC14 NA06985,NA06989,NA07022,NA10836,NA10840,NA10843,NA10852,NA10853,NA10859,NA11881,NA11882,NA11892,NA11917,NA11918,NA11919,NA11930,NA11931,NA11992,NA11995,NA12043,NA12045,NA12145,NA12154,NA12155,NA12282,NA12283,NA12286,NA12335,NA12336,NA12341,NA12342,NA12343,NA12375,NA12376,NA12383,NA12386,NA12400,NA12489,NA12708,NA12740,NA12750,NA12751,NA12753,NA12762,NA12766,NA12775,NA12777,NA12801,NA12802,NA12812,NA12814,NA12815,NA12818,NA12828,NA12829,NA12877,NA12878,NA12890,NA12891,NA17962,NA17966,NA17968,NA17969,NA17972,NA17975,NA17977,NA17980,NA17981,NA17983,NA17987,NA17989,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18106,NA18107,NA18108,NA18112,NA18118,NA18120,NA18122,NA18125,NA18127,NA18131,NA18132,NA18134,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18157,NA18159,NA18160,NA18161,NA18162,NA18166,NA18487,NA18497,NA18498,NA18499,NA18503,NA18505,NA18506,NA18507,NA18509,NA18511,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18536,NA18537,NA18542,NA18543,NA18546,NA18548,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18620,NA18621,NA18622,NA18623,NA18624,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18642,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18757,NA18852,NA18854,NA18859,NA18860,NA18862,NA18868,NA18869,NA18871,NA18872,NA18874,NA18875,NA18912,NA18913,NA18914,NA18917,NA18923,NA18925,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18949,NA18951,NA18952,NA18953,NA18954,NA18956,NA18959,NA18960,NA18963,NA18964,NA18965,NA18967,NA18968,NA18970,NA18971,NA18972,NA18974,NA18975,NA18976,NA18978,NA18979,NA18980,NA18987,NA18990,NA18993,NA18994,NA18997,NA18998,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19028,NA19031,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19062,NA19063,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19080,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19094,NA19095,NA19096,NA19097,NA19099,NA19102,NA19107,NA19109,NA19114,NA19115,NA19121,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19141,NA19146,NA19148,NA19149,NA19150,NA19151,NA19152,NA19159,NA19160,NA19161,NA19172,NA19173,NA19176,NA19178,NA19180,NA19181,NA19185,NA19186,NA19191,NA19193,NA19201,NA19204,NA19207,NA19209,NA19210,NA19235,NA19238,NA19239,NA19248,NA19249,NA19256,NA19307,NA19308,NA19310,NA19313,NA19314,NA19315,NA19316,NA19321,NA19332,NA19334,NA19359,NA19360,NA19371,NA19372,NA19375,NA19377,NA19383,NA19384,NA19385,NA19390,NA19391,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19429,NA19431,NA19435,NA19439,NA19443,NA19446,NA19455,NA19462,NA19463,NA19466,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19657,NA19659,NA19662,NA19664,NA19680,NA19684,NA19685,NA19686,NA19701,NA19708,NA19712,NA19713,NA19714,NA19716,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19727,NA19759,NA19762,NA19770,NA19772,NA19777,NA19778,NA19779,NA19781,NA19788,NA19795,NA19835,NA19900,NA19904,NA19915,NA19916,NA19917,NA19918,NA19982,NA19983,NA19985,NA20126,NA20127,NA20276,NA20277,NA20284,NA20289,NA20290,NA20291,NA20294,NA20295,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20343,NA20345,NA20348,NA20349,NA20502,NA20505,NA20508,NA20509,NA20510,NA20516,NA20519,NA20520,NA20521,NA20524,NA20525,NA20531,NA20534,NA20535,NA20538,NA20541,NA20582,NA20588,NA20752,NA20754,NA20757,NA20760,NA20766,NA20770,NA20771,NA20772,NA20775,NA20783,NA20785,NA20792,NA20795,NA20797,NA20799,NA20802,NA20803,NA20809,NA20811,NA20815,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20849,NA20850,NA20852,NA20859,NA20861,NA20862,NA20866,NA20871,NA20872,NA20874,NA20876,NA20877,NA20882,NA20883,NA20884,NA20885,NA20887,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20900,NA20901,NA20903,NA20906,NA20908,NA20909,NA20910,NA20911,NA21089,NA21090,NA21091,NA21098,NA21099,NA21104,NA21105,NA21106,NA21108,NA21109,NA21111,NA21112,NA21117,NA21125,NA21142,NA21295,NA21300,NA21301,NA21309,NA21311,NA21313,NA21314,NA21316,NA21318,NA21333,NA21339,NA21344,NA21352,NA21353,NA21355,NA21357,NA21360,NA21362,NA21365,NA21366,NA21367,NA21378,NA21385,NA21386,NA21388,NA21391,NA21399,NA21415,NA21418,NA21423,NA21424,NA21425,NA21435,NA21438,NA21439,NA21453,NA21454,NA21455,NA21457,NA21473,NA21479,NA21480,NA21485,NA21509,NA21512,NA21513,NA21514,NA21520,NA21523,NA21525,NA21527,NA21529,NA21573,NA21576,NA21577,NA21583,NA21596,NA21597,NA21608,NA21611,NA21613,NA21614,NA21615,NA21619,NA21620,NA21631,NA21634,NA21636,NA21647,NA21648,NA21650,NA21683,NA21685,NA21686,NA21693,NA21717,NA21733,NA21739,NA21740,NA21768,NA21776,NA21825,NA21826 nsv442771 19 56834427 56840009 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SIGLEC14 dgv1111e1 19 56834443 56856939 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1559,essv6468,essv18046 M 271 0 0 SIGLEC14 NA06993,NA18637,NA18997 dgv595n67 19 56837681 56839060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828608,nsv828606,nsv828610,nsv828607 M 31 0 6 SIGLEC14 AK18,AK8,NA18526,NA18537,NA18582,NA18972 nsv828611 19 56839045 56840364 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430256 S 31 0 1 SIGLEC14 AK14 nsv828612 19 56839695 56840364 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428749 S 31 0 1 SIGLEC14 AK10 nsv510477 19 56867057 56873057 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618449,nssv624206,nssv621464 M 4 0 3 "" CHM,NA15510,NA18994 esv2588011 19 56867118 56869927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277829 S 1 0 1 "" NA18507 esv988297 19 56867442 56869549 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565374 S 3 0 1 "" HuRef nsv512589 19 56867683 56869340 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625200 S 1 0 1 "" 1 esv3012 19 56867713 56869399 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25453 S 1 0 1 Single Asian sample YH "" YH esv9423 19 56867744 56869329 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31864 S 1 0 1 "" SJK esv1478464 19 56867749 56869333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087162 S 2 0 1 "" HuRef nsv521396 19 56873207 56873610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698007 S 2026 0 1 "" nsv523262 19 56873610 56873827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698996 S 2026 0 1 "" nsv912296 19 56874175 56922844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510380 S 6533 0 1 HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E SP54956 nsv9742 19 56879350 56913554 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25431,nssv27588,nssv27451,nssv28566,nssv24814 M 31 4 1 Samples from several populations that are part of the HapMap project. HAS1,LINC00085,MIR125A,MIR99B,MIRLET7E NA18502,NA18552,NA18980,NA19132,NA19221 nsv912297 19 56905555 56918878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511093 S 6533 0 1 HAS1 SP54988 nsv524403 19 56917579 57048603 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700322 S 2026 1 0 FPR1,FPR2,FPR3,HAS1 nsv470151 19 56917579 57050981 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546562 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FPR1,FPR2,FPR3,HAS1,ZNF577 HGDP00936 nsv458733 19 56917579 57051795 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535642 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FPR1,FPR2,FPR3,HAS1,ZNF577 HGDP00936 dgv143e55 19 56919728 57322747 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751799,esv2751798,esv2751797,esv34502,esv34938,esv2751800,esv2751801 M 771 7 0 FPR1,FPR2,FPR3,ZNF350,ZNF432,ZNF577,ZNF613,ZNF614,ZNF615,ZNF616,ZNF649,ZNF841 BEC_540,BEC_671,BEC_686,NA10855,NA11832,SPC_195,SPC_88 dgv1112e1 19 56951383 57296437 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20826,essv18468 M 271 0 0 FPR2,FPR3,ZNF350,ZNF432,ZNF577,ZNF613,ZNF614,ZNF615,ZNF649,ZNF841 NA10855,NA11832 dgv425n27 19 56979264 57299577 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458736,nsv458735 M 1557 2 0 FPR3,ZNF350,ZNF432,ZNF577,ZNF613,ZNF614,ZNF615,ZNF649,ZNF841 1780854257_A,1780862390_A dgv1113e1 19 57037904 57225638 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20206,essv21274 M 271 0 0 ZNF350,ZNF577,ZNF613,ZNF614,ZNF615,ZNF649 NA10855,NA11832 nsv912298 19 57062988 57095328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591132 S 6533 0 1 ZNF577,ZNF649 IS38642 nsv833872 19 57123599 57310836 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454850 S 95 0 1 ZNF350,ZNF432,ZNF613,ZNF614,ZNF615,ZNF616,ZNF841 nsv525259 19 57159634 57163376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701358 S 2026 0 1 ZNF350 esv2242567 19 57170993 57171362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540518 S 1 0 1 ZNF350 NA18507 nsv2535 19 57272718 57317701 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7450 S 9 0 1 ZNF616,ZNF841 NA12156 nsv817856 19 57339705 57360509 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418113 S 112 1 0 ZNF836 NA11882 esv22131 19 57384367 57388027 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21017 S 451 0 1 PPP2R1A NA12239 nsv518533 19 57402826 57402950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695976 S 2026 0 1 PPP2R1A nsv517598 19 57459909 57460244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678791,nssv688883,nssv688768,nssv660538,nssv691108,nssv652470,nssv668207,nssv659469,nssv690100 M 2026 0 9 "" nsv833873 19 57480751 57629093 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454851 S 95 1 0 ZNF480,ZNF528,ZNF534,ZNF610,ZNF766,ZNF880 nsv912299 19 57487797 57524642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514735 S 6533 0 1 ZNF480 SP56047 esv27010 19 57491989 57492674 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20268 S 451 0 1 ZNF480 NA12287 nsv458742 19 57500798 57557983 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535645 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF480,ZNF610 HGDP01189 dgv3978n71 19 57524642 57619851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912301,nsv912300 M 6533 0 3 ZNF528,ZNF610,ZNF880 MS25696,SP54480,SP55003 esv2600634 19 57540507 57542138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266173 S 1 0 1 ZNF610 NA18507 dgv3979n71 19 57551640 57619851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912302,nsv912303 M 6533 0 2 ZNF528,ZNF610,ZNF880 IS38596,IS40581 esv21813 19 57554521 57555986 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20474,esv18115 M 451 15 0 ZNF610 NA11995,NA12044,NA12239,NA12878,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19129,NA19190,NA19225,NA19240 nsv2536 19 57561269 57593876 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7451 S 9 0 1 ZNF528,ZNF610,ZNF880 NA12156 nsv507900 19 57573542 57579542 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620643,nssv617945 M 4 2 0 ZNF880 CHM,NA15510 esv2750580 19 57574242 57577035 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94825 S 51 0 1 ZNF880 21791 nsv521079 19 57577949 57609438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697776 S 2026 0 1 ZNF528,ZNF880 nsv511613 19 57579883 57586978 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626244 S 1 0 1 ZNF880 1 nsv512590 19 57580392 57583218 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625201 S 1 0 1 ZNF880 1 esv28637 19 57580562 57582941 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17108 S 451 0 12 ZNF880 NA07045,NA11931,NA11993,NA11995,NA12156,NA12489,NA12776,NA18508,NA18861,NA18907,NA19190,NA19240 dgv596n67 19 57580579 57583262 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828614,nsv828613 M 31 0 4 ZNF880 NA18566,NA18949,NA18972,NA18997 nsv828615 19 57580579 57628367 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431016 S 31 0 1 ZNF528,ZNF534,ZNF880 AK16 esv32843 19 57580834 57582921 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93911,essv94099,essv96921,essv97927,essv95682,essv95567,essv98967,essv92932,essv92679,essv93747,essv93562,essv93309,essv94966,essv96478,essv99201,essv99546 M 51 0 15 ZNF880 21634,21802,21817,21837,21841,21938,21939,21944,21972,22128,22170,22231,22261,22275,22335 esv33518 19 57592739 57592999 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93382 S 51 1 0 ZNF528 22170 esv2314940 19 57640599 57641091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771984 S 1 0 1 "" NA18507 nsv138393 19 57640782 57640887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156971 M 24 "" esv1406635 19 57640783 57640889 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975351 S 2 0 1 "" HuRef nsv509751 19 57673196 57673196 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623764 S 4 1 0 ZNF578 NA18994 nsv436854 19 57693832 57733438 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465690 S 2 1 0 Samples from several populations that are part of the HapMap project. ZNF578,ZNF808 NA18505 nsv510772 19 57729023 57795282 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620122 S 4 0 1 ZNF137P,ZNF701,ZNF808 NA15510 nsv833874 19 57749826 57949687 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454852 S 95 0 1 ZNF137P,ZNF611,ZNF701,ZNF808,ZNF83 nsv458743 19 57757473 57806079 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535646 S 1557 0 1 ZNF137P,ZNF701 1780862226_A nsv912304 19 57762967 57806079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580964 S 6533 0 1 ZNF137P,ZNF701 IS35484 esv2545014 19 57773053 57775807 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176391 S 1 0 1 ZNF701 NA18507 esv4313 19 57775791 57776206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26754 S 1 0 1 Single Asian sample YH ZNF701 YH dgv3980n71 19 57784277 58041662 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912312,nsv912305 M 6533 2 0 ZNF137P,ZNF28,ZNF468,ZNF600,ZNF611,ZNF83 MS16822,SP57314 dgv3981n71 19 57784277 58143103 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912310,nsv912309,nsv912307,nsv912308,nsv912313,nsv912306,nsv912318,nsv912317 M 6533 10 0 ZNF137P,ZNF28,ZNF320,ZNF321P,ZNF468,ZNF600,ZNF611,ZNF816-ZNF321P,ZNF83 MS13810,MS14696,MS15630,MS18479,MS18902,MS21242,MS23120,MS24021,MS24550,MS25345 esv2607292 19 57786238 57791581 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214791 S 1 0 1 "" NA18507 nsv828616 19 57787028 57829635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433356 S 31 1 0 ZNF137P,ZNF83 NA18972 nsv512591 19 57787510 57789458 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625202 S 1 0 1 "" 1 esv2456216 19 57787595 57790243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350000 S 1 0 1 "" NA18507 esv1005702 19 57787640 57789612 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564164 S 3 0 1 "" HuRef esv2232002 19 57787645 57789590 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878481 S 1 0 1 "" NA18507 esv1257151 19 57787834 57789436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301737 S 2 0 1 "" HuRef nsv912311 19 57795687 57904173 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560311 S 6533 1 0 ZNF611,ZNF83 MS24426 dgv3982n71 19 57797359 57849835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912316,nsv912314,nsv912315 M 6533 0 8 ZNF83 MS20041,MS20286,MS21059,MS21244,MS21325,MS22093,MS22353,MS22765 nsv519070 19 57806079 57807655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696542 S 2026 0 1 ZNF83 nsv527815 19 57806079 57809343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704310 S 2026 0 1 ZNF83 nsv817857 19 57806079 57812371 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417579 S 112 1 0 ZNF83 NA18972 nsv522273 19 57807655 57807872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694151 S 2026 0 1 ZNF83 esv2094808 19 57808559 57808988 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635053 S 1 0 1 ZNF83 NA18507 nsv458744 19 57812371 57928143 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535647 S 1557 1 0 ZNF611,ZNF83 NINDS_204 nsv509752 19 57842381 58018662 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619754 S 4 1 0 ZNF28,ZNF600,ZNF611,ZNF83 NA10860 dgv3983n71 19 57844735 57934838 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912319,nsv912320 M 6533 0 2 ZNF611,ZNF83 IS31563,IS33504 dgv3984n71 19 57878648 58143103 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912323,nsv912321 M 6533 2 0 ZNF28,ZNF320,ZNF321P,ZNF468,ZNF600,ZNF611,ZNF816-ZNF321P,ZNF83 MS24426,MS25750 esv2599883 19 57890848 57954295 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310860 S 1 0 1 ZNF611 NA18507 esv7362 19 57896301 57957478 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29803 S 1 0 1 ZNF611 SJK nsv470152 19 57898994 57941160 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546563 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF611 HGDP00928 nsv458745 19 57898994 57966208 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535648 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF600,ZNF611 HGDP00928 nsv833875 19 57903147 58083271 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454853,nssv1454854 M 95 0 2 ZNF28,ZNF320,ZNF468,ZNF600,ZNF611 nsv912322 19 57904173 57959318 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524399 S 6533 1 0 ZNF611 SP55007 nsv521828 19 57924105 57925085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694602 S 2026 0 1 ZNF611 esv1709802 19 57927515 57927515 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320068 S 2 1 0 ZNF611 HuRef nsv527597 19 57959318 57970794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704058 S 2026 0 1 ZNF600 nsv458746 19 57980685 58049723 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535649 S 1557 1 0 ZNF28,ZNF468,ZNF600 NINDS_266 esv2445065 19 57991776 58034207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173536 S 1 0 1 ZNF28,ZNF468 NA18507 nsv817858 19 57994293 58049723 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416890,nssv1416891 M 112 2 0 ZNF28,ZNF468 NA19238,NA19240 nsv458747 19 57994293 58116136 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535650 S 1557 1 0 ZNF28,ZNF320,ZNF468 NINDS_240 dgv3985n71 19 57994434 58059204 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912325,nsv912324 M 6533 8 0 ZNF28,ZNF468 IS35771,MS14268,MS20546,MS21677,MS22224,MS22741,SP52264,SP58240 nsv528436 19 57994434 58065844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705030 S 2026 0 1 ZNF28,ZNF468 esv1065813 19 58001661 58001661 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350795 S 2 1 0 ZNF28 HuRef dgv1114e1 19 58002524 58037133 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1671,essv1537,esv1032,essv10969,essv3597,essv21105 M 271 0 0 ZNF28,ZNF468 NA10854,NA18969,NA18992,NA19012,NA19092 dgv3986n71 19 58003375 58065844 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912326,nsv912328 M 6533 0 2 ZNF28,ZNF468 MS19437,MS25025 esv2464403 19 58004034 58013770 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343602 S 1 0 1 ZNF28 NA18507 esv1009469 19 58005678 58016158 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564625 S 3 0 1 ZNF28 HuRef nsv912327 19 58008078 58041662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501437 S 6533 0 1 ZNF28,ZNF468 SP51108 nsv9743 19 58008184 58012105 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26991 S 31 0 1 Samples from several populations that are part of the HapMap project. ZNF28 NA18504 esv1979870 19 58008333 58011947 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716460 S 1 0 1 ZNF28 NA18507 esv999313 19 58008356 58014027 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586324 S 3 0 1 ZNF28 HuRef esv28948 19 58008356 58014417 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19928,esv10035 M 451 0 4 ZNF28 NA18523,NA18858,NA19099,NA19129 esv1010802 19 58008681 58011228 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586796 S 3 0 1 ZNF28 HuRef nsv828617 19 58008681 58011228 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431346,nssv1436940 M 31 0 2 ZNF28 NA18592,NA18947 nsv828618 19 58008681 58014612 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434102 S 31 0 1 ZNF28 NA18526 dgv3987n71 19 58008813 58169921 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912330,nsv912329 M 6533 2 0 ZNF28,ZNF320,ZNF321P,ZNF468,ZNF702P,ZNF816,ZNF816-ZNF321P MS17751,SP54092 nsv912331 19 58009042 58041662 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500573,nssv1518640,nssv1513602,nssv1499176,nssv1503401,nssv1518400,nssv1512441,nssv1516976 M 6533 6 2 ZNF28,ZNF468 SP50082,SP50571,SP52052,SP55511,SP55803,SP57010,SP57545,SP57860 nsv912332 19 58009042 58043513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511879,nssv1503388,nssv1501635 M 6533 3 0 ZNF28,ZNF468 SP50796,SP52051,SP55131 dgv3988n71 19 58009042 58059204 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv912334,nsv912333 M 6533 28 5 ZNF28,ZNF468 SP50519,SP50593,SP51368,SP52160,SP52399,SP52729,SP53440,SP54362,SP54442,SP54509,SP54526,SP54650,SP54879,SP55257,SP55346,SP55469,SP55670,SP55747,SP55787,SP55820,SP56002,SP56023,SP56215,SP56307,SP56313,SP56710,SP56833,SP57226,SP57278,SP57348,SP57355,SP81003,SP81091 esv1004256 19 58013889 58050120 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565602 S 3 0 1 ZNF28,ZNF468 HuRef nsv828619 19 58014735 58049229 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431743 S 31 1 0 ZNF28,ZNF468 AK18 esv21942 19 58014801 58053170 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20968 S 451 1 0 ZNF28,ZNF468 NA19240 esv2013773 19 58014981 58015538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929708 S 1 0 1 ZNF28 NA18507 nsv9744 19 58016032 58051085 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26968 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF28,ZNF468 NA19240 nsv819146 19 58016841 58054820 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418725 S 2 1 0 ZNF468 AK1 nsv436855 19 58018774 58050847 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465691 S 2 1 0 Samples from several populations that are part of the HapMap project. ZNF468 NA18505 esv2421897 19 58019371 58050701 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003913,essv5017931,essv5072455,essv5039889,essv5144803,essv5016340,essv5015493,essv5045892,essv5079146,essv5155845,essv5030031,essv5040413,essv5115804,essv5083929,essv5127771,essv5036007,essv5071068,essv5151925,essv5086389,essv5093697,essv5155224,essv5056578,essv5120905,essv5091408,essv5157491,essv5048029,essv5114905,essv5143791,essv5131035,essv5051815,essv5093696,essv5058178,essv5130957,essv5125699,essv5101173,essv5085747,essv5081072,essv5007898 M 1184 24 14 ZNF468 NA10854,NA11839,NA11882,NA18101,NA18108,NA18122,NA18133,NA18136,NA18138,NA18140,NA18510,NA18555,NA18594,NA18954,NA18959,NA18965,NA18969,NA18970,NA18978,NA18991,NA18995,NA19059,NA19063,NA19081,NA19209,NA19211,NA19238,NA19240,NA19918,NA20126,NA20284,NA20859,NA20894,NA20897,NA21105,NA21143,NA21357,NA21491 nsv828621 19 58019653 58049229 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422330 S 31 0 1 ZNF468 NA18969 nsv442470 19 58019782 58045481 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZNF468 nsv2537 19 58019892 58064406 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4647 S 9 0 1 ZNF468 NA19129 dgv18n14 19 58023726 58065844 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433456,nsv433455 M 9 2 0 ZNF468 NA18555,NA19240 dgv3989n71 19 58023726 58066719 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912336,nsv912339,nsv912335 M 6533 0 21 ZNF468 MS10241,MS10937,MS11057,MS11257,MS11858,MS12461,MS13605,MS13819,MS14637,MS15342,MS18933,MS20987,MS21216,MS22764,MS24219,MS24704,MS24752,MS24812,MS25839,MS26118,SP58462 dgv1115e1 19 58023851 58037133 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6796,essv2113,essv2730,essv3938 M 271 0 0 ZNF468 NA18594,NA18959,NA18965,NA18970 dgv3990n71 19 58023851 58059204 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912337,nsv912338 M 6533 6 0 ZNF468 SP51051,SP53276,SP54409,SP54682,SP56125,SP57208 dgv426n27 19 58028179 58036513 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458748,nsv458749 M 1557 0 2 ZNF468 HGDP00998,HGDP01010 nsv817859 19 58028179 58036513 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417497 S 112 1 0 ZNF468 NA18965 nsv458750 19 58028179 58041662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535653 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF468 HGDP01019 nsv517570 19 58028179 58049723 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684277,nssv682880,nssv682600,nssv667725,nssv678509,nssv689216,nssv652398 M 2026 2 5 ZNF468 nsv817860 19 58028179 58049723 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417597,nssv1418328,nssv1417654 M 112 2 1 ZNF468 NA18978,NA18992,NA19092 nsv458752 19 58028179 58075997 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535655 S 1557 0 1 ZNF320,ZNF468 1780854465_A nsv524151 19 58028179 58084899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700030 S 2026 1 0 ZNF320,ZNF468 nsv525329 19 58028179 58084899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701439 S 2026 0 1 ZNF320,ZNF468 nsv519916 19 58033964 58062157 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697123 S 2026 1 0 ZNF468 nsv819613 19 58033964 58065844 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418883 S 2 1 0 ZNF468 AK1 nsv2538 19 58034024 58039352 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1465 S 9 1 0 ZNF468 NA19240 nsv912340 19 58062157 58122174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517556 S 6533 1 0 ZNF320 SP57314 dgv1116e1 19 58102271 58344387 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19552,essv12256,essv13685,essv24883,essv20011,esv660,essv9736 M 271 0 0 ERVV-1,ERVV-2,ZNF160,ZNF321P,ZNF347,ZNF415,ZNF702P,ZNF816,ZNF816-ZNF321P NA07000,NA07048,NA12864,NA18913,NA19101,NA19119 nsv428370 19 58102271 58344387 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453761,nssv453760 M 62 0 2 ERVV-1,ERVV-2,ZNF160,ZNF321P,ZNF347,ZNF415,ZNF702P,ZNF816,ZNF816-ZNF321P NA18498,NA19096 nsv522421 19 58105637 58124866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705774 S 2026 0 1 ZNF321P,ZNF816-ZNF321P esv2143715 19 58113819 58116199 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724427 S 1 0 1 "" NA18507 esv8584 19 58114019 58116018 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31025 S 1 0 1 "" SJK nsv2539 19 58119965 58126372 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7452 S 9 0 1 ZNF321P,ZNF816-ZNF321P NA12156 essv1672 19 58162326 58246052 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ERVV-1,ERVV-2,ZNF702P NA18992 nsv9745 19 58168791 58174784 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23969,nssv25315,nssv24555,nssv25485,nssv21695,nssv26768,nssv25407,nssv22459,nssv25301 M 31 9 0 Samples from several populations that are part of the HapMap project. ZNF702P NA10839,NA10847,NA12155,NA18564,NA18572,NA18942,NA18975,NA18980,NA19007 esv34546 19 58169921 58201500 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978255,essv6978256 M 771 0 1 ZNF702P NA18992 nsv817861 19 58175844 58197672 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417639 S 112 0 1 ZNF702P NA18992 dgv427n27 19 58176902 58244108 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458753,nsv458754 M 1557 2 0 ERVV-1,ERVV-2,ZNF702P 1780862212_A,HGDP00572 nsv515506 19 58206416 58244108 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676585,nssv670286,nssv653366,nssv688838,nssv661105,nssv702012,nssv692648,nssv678510,nssv672704,nssv685246 M 2026 9 1 ERVV-1,ERVV-2 nsv528740 19 58206416 58246520 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705397 S 2026 1 0 ERVV-1,ERVV-2 dgv428n27 19 58206499 58246520 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458756,nsv458755,nsv458757 M 1557 3 0 ERVV-1,ERVV-2 HGDP00580,HGDP00587,HGDP00734 nsv511612 19 58208475 58245498 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626242 S 1 1 0 ERVV-1,ERVV-2 1 nsv820366 19 58208755 58246545 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420062 S 1 1 0 ERVV-1,ERVV-2 NA10851 dgv597n67 19 58208862 58244232 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828622,nsv828623 M 31 3 0 ERVV-1,ERVV-2 AK12,AK14,AK16 nsv820081 19 58208888 58244983 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418724 S 2 0 1 ERVV-1,ERVV-2 AK1 esv22342 19 58208979 58246055 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21246,esv12655,esv20939 M 451 0 38 ERVV-1,ERVV-2 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9747 19 58208997 58246838 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27459,nssv25918,nssv25417,nssv24436,nssv26779,nssv27574,nssv25508,nssv27001,nssv27596,nssv24839,nssv22240,nssv25432,nssv24641,nssv26978,nssv27662,nssv24512,nssv22151,nssv24169,nssv21725,nssv27808,nssv25684,nssv28567,nssv24026,nssv26302,nssv24922,nssv22489,nssv25340,nssv25326,nssv25798,nssv25095 M 31 0 30 Samples from several populations that are part of the HapMap project. ERVV-1,ERVV-2 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2421539 19 58210326 58244108 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107331,essv5084068,essv5040131,essv5042559,essv5140683,essv5158699,essv5139954,essv5066687,essv5127012,essv5030273,essv5018343,essv5135781,essv5030680,essv5031523,essv5070854,essv5060744,essv5064918,essv5055897,essv5042679,essv5080499,essv5077568,essv5109850,essv5007436,essv5146867,essv5007173,essv5102276,essv5015497,essv5066452,essv5079900,essv5046924,essv5071579,essv5096290,essv5083889,essv5054379,essv5039199,essv5108803,essv5120546,essv5021118,essv5120360,essv5093860,essv5119986,essv5096899,essv5015823,essv5148577,essv5033286,essv5066531,essv5010959,essv5044745,essv5048164,essv5082481,essv5069854,essv5110907,essv5018903,essv5160224,essv5023079,essv5054925,essv5096628,essv5152469,essv5103388,essv5071692,essv5116058,essv5115134,essv5110184,essv5056378,essv5121277,essv5122047,essv5058767,essv5031670,essv5112854,essv5143827,essv5087988,essv5116217,essv5108282,essv5121353,essv5126427,essv5029130,essv5057402,essv5013281 M 1184 78 0 ERVV-1,ERVV-2 NA07022,NA07051,NA07347,NA10854,NA10859,NA10863,NA11831,NA11832,NA11839,NA11882,NA11892,NA11931,NA12044,NA12234,NA12248,NA12249,NA12275,NA12283,NA12344,NA12347,NA12413,NA12708,NA12716,NA12718,NA12752,NA12761,NA12762,NA12801,NA12802,NA12812,NA12814,NA12817,NA12828,NA12830,NA12872,NA18955,NA18974,NA19084,NA19474,NA19649,NA19650,NA19651,NA19653,NA19660,NA19670,NA19671,NA19682,NA19685,NA19722,NA19724,NA19725,NA19746,NA19748,NA19776,NA19777,NA19779,NA19819,NA19828,NA19915,NA20281,NA20518,NA20527,NA20530,NA20534,NA20538,NA20755,NA20801,NA20861,NA20887,NA20904,NA21094,NA21123,NA21355,NA21385,NA21386,NA21405,NA21648,NA21738 nsv513759 19 58210518 58243813 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627011 S 1 1 0 ERVV-1,ERVV-2 1 nsv912341 19 58210559 58246052 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506750,nssv1513627 M 6533 2 0 ERVV-1,ERVV-2 SP54401,SP55807 nsv442772 19 58210563 58244245 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ERVV-1,ERVV-2 esv32872 19 58210665 58245897 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97589,essv101401,essv101760,essv99014,essv96089,essv93463,essv97632,essv99438,essv96297,essv94211 M 51 10 0 ERVV-1,ERVV-2 21616,21805,21909,21938,22007,22128,22278,22335,22371,22394 dgv30n64 19 58224973 58244108 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817864,nsv817863 M 112 11 0 ERVV-2 NA10851,NA10859,NA10863,NA11881,NA12044,NA12056,NA12234,NA12248,NA12249,NA12801,NA12812 nsv2540 19 58239047 58253671 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7453 S 9 0 1 ERVV-2 NA12156 nsv912342 19 58272963 58702571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574236 S 6533 1 0 BIRC8,LOC147804,LOC646508,VN1R2,VN1R4,ZNF160,ZNF347,ZNF415,ZNF525,ZNF665,ZNF677,ZNF761,ZNF765,ZNF813,ZNF845 IS33531 nsv912343 19 58286618 58324708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536794 S 6533 0 1 ZNF160,ZNF415 MS12963 nsv9748 19 58291348 58294829 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28568 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF160 NA19221 dgv3991n71 19 58291430 58324708 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv912344,nsv912346 M 6533 5 5 ZNF160,ZNF415 IS35637,IS37415,IS38280,IS38972,IS40149,IS40898,MS15097,MS15475,MS16070,MS23767 nsv435700 19 58291944 58322826 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465692 S 2 0 1 ZNF160,ZNF415 NA15510 esv2488809 19 58292636 58323862 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250267 S 1 0 1 ZNF160,ZNF415 NA18507 nsv527053 19 58292657 58317924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703429 S 2026 1 0 ZNF160,ZNF415 nsv912345 19 58292657 58317924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542805 S 6533 0 1 ZNF160,ZNF415 MS15906 nsv470153 19 58292657 58318325 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546565 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF160,ZNF415 HGDP00466 dgv429n27 19 58292657 58319589 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458758,nsv458760 M 1557 2 0 ZNF160,ZNF415 1798860292_A,HGDP00214 esv8151 19 58294538 58324205 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30592 S 1 0 1 ZNF160,ZNF415 SJK nsv515862 19 58294765 58318325 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701180,nssv665055,nssv683687 M 2026 1 2 ZNF160,ZNF415 dgv3992n71 19 58294765 58324708 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912348,nsv912347 M 6533 4 0 ZNF160,ZNF415 IS30763,IS38016,MS18848,MS22840 nsv912349 19 58304667 58319589 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512525 S 6533 1 0 ZNF415 SP55548 esv2228870 19 58308156 58308797 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713584 S 1 0 1 ZNF415 NA18507 esv5924 19 58308270 58308595 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28365 S 1 0 1 ZNF415 SJK esv1316926 19 58308276 58308594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346217 S 2 0 1 ZNF415 HuRef esv1006571 19 58308282 58308599 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572578 S 3 0 1 ZNF415 HuRef esv23288 19 58321407 58324031 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19831,esv12325 M 451 3 0 ZNF415 NA12414,NA15510,NA18916 nsv912350 19 58327828 58379630 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576019,nssv1572053 M 6533 2 0 ZNF347,ZNF415,ZNF665 IS32843,IS33857 nsv912351 19 58347305 58394320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547042 S 6533 0 1 ZNF347,ZNF665 MS17208 dgv430n27 19 58373854 58397366 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458766,nsv458761,nsv458765,nsv458764,nsv458763 M 1557 5 0 ZNF665 HGDP01066,HGDP01073,HGDP01075,NINDS_201,NINDS_233 esv2611703 19 58379625 58383924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282538 S 1 0 1 ZNF665 NA18507 nsv512592 19 58380872 58383781 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625203 S 1 0 1 ZNF665 1 esv1301232 19 58380989 58383771 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338766 S 2 0 1 ZNF665 HuRef esv1006343 19 58380998 58384587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565818 S 3 0 1 ZNF665 HuRef nsv435701 19 58380999 58384953 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465693 S 2 0 1 ZNF665 NA15510 esv26891 19 58426234 58430161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10033 S 451 0 1 "" NA19114 esv6489 19 58467451 58506864 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28930 S 1 0 0 BIRC8,LOC646508 SJK esv5629 19 58480401 58493562 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28070 S 1 0 0 BIRC8 SJK nsv817865 19 58484854 58490757 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418117 S 112 1 0 BIRC8 NA11882 esv271494 19 58490910 58491247 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514697,essv2517664 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12878 esv272401 19 58490910 58491247 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581318 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2025777 19 58512399 58513108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868767 S 1 0 1 "" NA18507 esv2516980 19 58512532 58513924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386528 S 1 0 1 "" NA18507 esv3085 19 58512558 58512971 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25526 S 1 0 1 Single Asian sample YH "" YH esv1280247 19 58512614 58512929 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162212 S 2 0 1 "" HuRef nsv912352 19 58524727 58715491 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565912 S 6533 1 0 LOC147804,ZNF525,ZNF761,ZNF765,ZNF813,ZNF845 IS30537 nsv512593 19 58564169 58566984 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625204 S 1 0 1 ZNF525 1 nsv458767 19 58564240 58640198 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535669 S 1557 0 1 LOC147804,ZNF525,ZNF761,ZNF765 1780846029_A esv8848 19 58565589 58640631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31289 S 1 0 1 LOC147804,ZNF525,ZNF761,ZNF765 SJK nsv521988 19 58567920 58640198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694755 S 2026 0 1 LOC147804,ZNF525,ZNF761,ZNF765 nsv527524 19 58569346 58585150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703979 S 2026 0 1 ZNF525 nsv912353 19 58569516 58650075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570963 S 6533 0 1 LOC147804,ZNF525,ZNF761,ZNF765 IS32382 nsv912354 19 58572985 58621499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558897 S 6533 0 1 ZNF525,ZNF765 MS23609 esv2368045 19 58581220 58581699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914059 S 1 0 1 ZNF525 NA18507 esv2462032 19 58581437 58581533 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289329 S 1 0 1 ZNF525 NA18507 nsv912355 19 58585150 58631502 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572054 S 6533 1 0 LOC147804,ZNF761,ZNF765 IS32843 esv259424 19 58586054 58586318 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394017,essv2394344 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv817866 19 58591685 58626449 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418118 S 112 1 0 ZNF765 NA11882 dgv3993n71 19 58591685 58675523 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912356,nsv912359 M 6533 3 0 LOC147804,ZNF761,ZNF765,ZNF813 MS17913,MS21958,MS24141 nsv515728 19 58591685 58705990 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674634,nssv668424,nssv687446,nssv664595,nssv684216,nssv669801,nssv698698,nssv682372,nssv681432 M 2026 8 1 LOC147804,ZNF761,ZNF765,ZNF813 nsv912357 19 58594425 58634965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512031 S 6533 0 1 LOC147804,ZNF761,ZNF765 SP55264 nsv912358 19 58594425 58650075 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590055,nssv1594818,nssv1531596,nssv1555095,nssv1528825,nssv1546373,nssv1533628,nssv1599498,nssv1544639,nssv1540500,nssv1561275,nssv1540410,nssv1553734,nssv1537582,nssv1533481,nssv1563276,nssv1547543,nssv1536731,nssv1559875,nssv1537847,nssv1544723,nssv1554813,nssv1549339,nssv1583331,nssv1560865,nssv1557234 M 6533 4 22 LOC147804,ZNF761,ZNF765 IS36423,IS38449,IS40031,IS41647,MS10566,MS11199,MS11243,MS12938,MS13253,MS13384,MS14835,MS14872,MS16408,MS16455,MS17193,MS17438,MS18192,MS20269,MS21017,MS21189,MS22505,MS24193,MS24736,MS24909,MS25943,SP81364 nsv9749 19 58599853 58602833 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27467 S 31 0 1 Samples from several populations that are part of the HapMap project. ZNF765 NA19132 nsv458768 19 58602330 58638832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535670 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC147804,ZNF761,ZNF765 HGDP01216 nsv470154 19 58602330 58641292 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546566 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC147804,ZNF761,ZNF765 HGDP01216 nsv912360 19 58602330 58650075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557698,nssv1587462 M 6533 2 0 LOC147804,ZNF761,ZNF765 IS38055,MS22807 essv5683 19 58604054 58651380 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC147804,ZNF761,ZNF765 NA18605 dgv1117e1 19 58604054 58696751 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8268,esv1263 M 271 0 0 LOC147804,ZNF761,ZNF765,ZNF813 NA19153 dgv3994n71 19 58612803 58709070 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912372,nsv912361,nsv912364,nsv912366,nsv912365,nsv912375,nsv912377,nsv912363,nsv912367 M 6533 18 0 LOC147804,ZNF761,ZNF813 IS32518,IS34649,IS36600,MS15103,MS15167,MS16591,MS19003,SP51014,SP51281,SP51300,SP52064,SP53344,SP56029,SP56234,SP57418,SP80909,SP81036,SP81117 nsv912362 19 58614327 58692136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585202 S 6533 0 1 LOC147804,ZNF761,ZNF813 IS37338 dgv3995n71 19 58614327 58709070 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv912368,nsv912373,nsv912371 M 6533 28 4 LOC147804,ZNF761,ZNF813 IS30180,IS31194,IS31821,IS32322,IS34613,IS35505,IS35538,IS36990,IS39326,IS41968,MS11550,MS14752,MS15788,MS21182,SP50519,SP50882,SP51279,SP51457,SP52172,SP52350,SP52371,SP52506,SP52562,SP52573,SP53051,SP53447,SP54118,SP54239,SP56803,SP56983,SP80980,SP81061 esv2491793 19 58617627 58699284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379771 S 1 0 1 LOC147804,ZNF761,ZNF813 NA18507 nsv436742 19 58618473 58622259 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465694 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv912369 19 58621499 58650075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528085 S 6533 1 0 LOC147804,ZNF761 SP81120 dgv3996n71 19 58621499 58687562 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912374,nsv912370 M 6533 2 0 LOC147804,ZNF761,ZNF813 MS10362,SP57589 nsv470156 19 58624107 58705989 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546567,nssv546568 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC147804,ZNF761,ZNF813 HGDP00699,HGDP00711 dgv431n27 19 58624107 58714537 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458771,nsv458776,nsv458775,nsv458772,nsv458769,nsv458778,nsv458770,nsv458777 M 1557 8 0 LOC147804,ZNF761,ZNF813 1780854480_A,1780854540_A,HGDP00674,HGDP00699,HGDP00711,HGDP00783,HGDP01163,HGDP01367 dgv78e19 19 58628517 58667167 CNV Loss Ahn et al 2009 19470904 Sequencing esv7338,esv7726 M 1 0 1 LOC147804,ZNF761,ZNF813 SJK nsv912376 19 58631834 58674524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578606 S 6533 0 1 LOC147804,ZNF761,ZNF813 IS34811 nsv912378 19 58641292 58667280 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506771 S 6533 1 0 ZNF761,ZNF813 SP54402 dgv3997n71 19 58641292 58702571 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912383,nsv912384,nsv912379 M 6533 4 0 ZNF761,ZNF813 SP52688,SP52694,SP52732,SP56185 nsv912380 19 58650342 58679350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499420 S 6533 0 1 ZNF761,ZNF813 SP50046 dgv3998n71 19 58650342 58692136 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912382,nsv912381 M 6533 2 0 ZNF761,ZNF813 SP51345,SP81461 nsv458779 19 58662393 58704092 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535681 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF813 HGDP00205 esv28878 19 58725214 58726360 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16029 S 451 0 1 ZNF331 NA19114 esv268330 19 58728138 58728499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500210,essv2501718,essv2495919,essv2508892,essv2500280,essv2495805,essv2503884,essv2495013 M 157 8 0 Samples from several populations that are part of the HapMap project. ZNF331 NA07000,NA07037,NA07051,NA12006,NA12144,NA12489,NA12878,NA12891 esv273673 19 58728153 58728483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582079,essv2582761 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNF331 NA12878,NA12891 esv2642494 19 58754702 58754810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270577 S 1 0 1 ZNF331 NA18507 nsv523944 19 58769368 58799498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699791 S 2026 0 1 LOC284379,ZNF331 nsv912385 19 58811886 58949734 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545830 S 6533 1 0 DPRX,MIR1283-1,MIR1323,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527 MS16965 nsv515586 19 58830971 58839857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664005,nssv685843 M 2026 0 2 DPRX esv1649345 19 58843896 58844131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240315 S 2 0 1 "" HuRef dgv3999n71 19 58853397 59022044 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912387,nsv912386 M 6533 2 0 MIR1283-1,MIR1283-2,MIR1323,MIR371,MIR371B,MIR372,MIR373,MIR498,MIR512-1,MIR512-2,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,NLRP12 SP52537,SP55352 esv5886 19 58860843 58863530 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28327 S 1 0 1 MIR512-1,MIR512-2 SJK nsv458781 19 58869085 58995524 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535682 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR1283-1,MIR1283-2,MIR371,MIR371B,MIR372,MIR373,MIR498,MIR515-1,MIR515-2,MIR516A1,MIR516A2,MIR516B1,MIR516B2,MIR517A,MIR517B,MIR517C,MIR518A1,MIR518A2,MIR518B,MIR518C,MIR518D,MIR518E,MIR518F,MIR519A1,MIR519A2,MIR519B,MIR519C,MIR519D,MIR519E,MIR520A,MIR520B,MIR520C,MIR520D,MIR520E,MIR520F,MIR520G,MIR520H,MIR521-1,MIR521-2,MIR522,MIR523,MIR524,MIR525,MIR526A1,MIR526A2,MIR526B,MIR527,NLRP12 HGDP01238 esv25591 19 58872043 58873370 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12882 S 451 0 3 "" NA18861,NA18907,NA19108 esv2448351 19 58923202 58955505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218077 S 1 0 1 MIR1283-2,MIR516A1,MIR516B1,MIR517C,MIR518A1,MIR518A2,MIR518D,MIR518E,MIR519A1,MIR520H,MIR521-1,MIR522,MIR527 NA18507 nsv524891 19 58986294 58988606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700897 S 2026 0 1 "" nsv912388 19 58986294 59059409 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571360 S 6533 1 0 NLRP12 IS32703 nsv519727 19 58988000 58988606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678433,nssv657935,nssv661562,nssv685598,nssv684804,nssv672314,nssv676148,nssv694011 M 2026 0 8 "" esv1103808 19 58989664 58989664 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684896 S 2 1 0 NLRP12 HuRef esv22987 19 59037079 59040275 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20887 S 451 0 1 "" NA18858 nsv833876 19 59041022 59190183 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454858,nssv1454856,nssv1454857,nssv1454855,nssv1454859 M 95 0 5 CACNG6,CACNG7,CACNG8,MIR935,MYADM,PRKCG esv24957 19 59047967 59061281 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12794 S 451 0 1 "" NA11995 nsv518546 19 59049576 59059409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695989 S 2026 0 1 "" nsv912389 19 59049576 59076223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510381 S 6533 0 1 MYADM SP54956 esv7999 19 59075333 59075522 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30440 S 1 0 1 "" SJK esv998310 19 59075336 59075543 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582838 S 3 0 1 "" HuRef esv1542173 19 59075345 59075553 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947680 S 2 0 1 "" HuRef esv1466526 19 59075741 59075741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341867 S 2 1 0 "" HuRef esv3276 19 59075764 59075992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25717 S 1 0 1 Single Asian sample YH "" YH esv1327084 19 59075805 59075903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893701 S 2 0 1 "" HuRef nsv2541 19 59096830 59141655 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5756,nssv7454 M 9 0 2 CACNG7,PRKCG NA12156,NA19129 esv24802 19 59111496 59121017 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20918 S 451 16 1 CACNG7 NA06985,NA07045,NA11894,NA11993,NA12004,NA12044,NA12239,NA12489,NA12776,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA19225,NA19257 nsv821044 19 59111496 59121266 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420063 S 1 0 1 CACNG7 NA10851 esv1776456 19 59114970 59114970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809790 S 2 1 0 CACNG7 HuRef esv1132464 19 59115290 59115370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003514 S 2 0 1 CACNG7 HuRef esv1297128 19 59116225 59116735 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246807 S 2 0 1 CACNG7 HuRef esv1328421 19 59116807 59116861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932181 S 2 0 1 CACNG7 HuRef esv1077595 19 59116896 59117467 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866170 S 2 0 1 CACNG7 HuRef esv1583311 19 59117641 59118098 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597926 S 2 0 1 CACNG7 HuRef esv1716904 19 59118165 59118729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217255 S 2 0 1 CACNG7 HuRef nsv912390 19 59123128 59143425 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517318 S 6533 1 0 CACNG7 SP57250 nsv833877 19 59146595 59312515 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454860 S 95 0 1 CACNG6,CACNG8,MIR935,NDUFA3,OSCAR,PRPF31,TARM1,TFPT,VSTM1 esv21442 19 59153351 59158214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16096,esv18753 M 451 0 14 CACNG8 NA11995,NA12006,NA12239,NA18502,NA18505,NA18858,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19225,NA19240 nsv820406 19 59153351 59158214 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420064 S 1 0 1 CACNG8 NA10851 nsv828624 19 59153351 59158214 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422341,nssv1434808,nssv1427170,nssv1424677,nssv1440755,nssv1435568,nssv1429506,nssv1437861,nssv1422293,nssv1430258,nssv1436261,nssv1431744,nssv1432568,nssv1437142,nssv1423360,nssv1430863,nssv1434103,nssv1428750,nssv1440055,nssv1439390,nssv1433357,nssv1425429,nssv1438529,nssv1423873,nssv1436951,nssv1431019,nssv1427954,nssv1431358,nssv1426281,nssv1423044 M 31 0 30 CACNG8 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv458782 19 59156210 59288431 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535683 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNG6,CACNG8,MIR935,TARM1,VSTM1 HGDP00080 esv1633824 19 59157739 59157838 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013874 S 2 0 1 "" HuRef esv989848 19 59157740 59157835 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579321 S 3 0 1 "" HuRef nsv912391 19 59164025 59189513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511610 S 6533 0 1 CACNG6,CACNG8,MIR935 SP55021 dgv4000n71 19 59170357 59192424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912392,nsv912393 M 6533 0 3 CACNG6,CACNG8,MIR935 SP54593,SP54725,SP54967 dgv205n21 19 59211572 59216837 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522633,nsv527223 M 2026 0 2 "" nsv510773 19 59212246 59327479 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620123 S 4 0 1 NDUFA3,OSCAR,PRPF31,TARM1,TFPT,VSTM1 NA15510 nsv820269 19 59235718 59236422 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419066 S 2 1 0 VSTM1 AK1 nsv9750 19 59244993 59253694 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27670,nssv24864,nssv25736,nssv26790,nssv26319,nssv22270,nssv22519,nssv25486,nssv24667,nssv24538,nssv25531,nssv27041,nssv21785,nssv25351,nssv25120,nssv24947,nssv27582,nssv25365,nssv27815 M 31 19 0 Samples from several populations that are part of the HapMap project. VSTM1 NA07048,NA10839,NA10847,NA12155,NA12802,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19144 nsv435707 19 59245792 59253278 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465695 S 2 0 1 VSTM1 NA15510 nsv182 19 59245803 59293019 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv182 S 1 0 1 OSCAR,TARM1,VSTM1 NA15510 nsv2542 19 59245803 59293019 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11002 S 9 0 1 OSCAR,TARM1,VSTM1 NA15510 esv2552009 19 59246492 59252956 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320973 S 1 0 1 VSTM1 NA18507 nsv828625 19 59246689 59252447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427171,nssv1437862,nssv1435569,nssv1425431,nssv1427955,nssv1431745 M 31 0 6 VSTM1 AK18,AK2,AK6,AK8,NA18942,NA18949 nsv820902 19 59246741 59252447 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420065 S 1 0 1 VSTM1 NA10851 nsv498905 19 59247337 59252461 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585766 S 9 0 1 VSTM1 esv27833 19 59247515 59252299 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12456 S 451 29 0 VSTM1 NA06985,NA07045,NA11894,NA11931,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12878,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv987659 19 59247618 59252289 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586739 S 3 1 0 VSTM1 HuRef esv2595621 19 59247643 59252907 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260150 S 1 0 1 VSTM1 NA18507 nsv819771 19 59247941 59252843 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419668 S 2 1 0 VSTM1 AK1 esv995580 19 59248856 59252052 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586957 S 3 1 0 VSTM1 HuRef nsv470157 19 59259065 59322960 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546569 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NDUFA3,OSCAR,PRPF31,TARM1,TFPT HGDP00657 esv29726 19 59269974 59282106 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19299 S 451 1 0 TARM1 NA12489 nsv138275 19 59285037 59285299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156853 M 24 "" dgv4001n71 19 59288841 59389526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912394,nsv912395 M 6533 0 2 CNOT3,LENG1,MBOAT7,NDUFA3,OSCAR,PRPF31,TFPT,TMC4,TSEN34 IS37646,MS18276 esv1149991 19 59291693 59291693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017837 S 2 1 0 OSCAR HuRef nsv515623 19 59298021 59374679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655362,nssv664142,nssv672240 M 2026 0 3 CNOT3,LENG1,MBOAT7,NDUFA3,PRPF31,TFPT,TMC4 esv1362488 19 59304980 59304980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045380 S 2 1 0 TFPT HuRef nsv2543 19 59313802 59316099 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4372 S 9 1 0 PRPF31 NA12878 dgv4002n71 19 59315361 59423491 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912396,nsv912397 M 6533 0 2 CNOT3,LENG1,LILRB3,MBOAT7,PRPF31,RPS9,TMC4,TSEN34 IS39233,IS39417 nsv2545 19 59318140 59338155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6799 S 9 1 0 CNOT3,PRPF31 NA12156 esv1131677 19 59325478 59325534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265578 S 2 0 1 PRPF31 HuRef esv24700 19 59332695 59333370 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17367 S 451 0 1 CNOT3 NA12239 nsv912398 19 59344166 59396532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510382 S 6533 0 1 CNOT3,LENG1,MBOAT7,TMC4,TSEN34 SP54956 nsv510774 19 59353561 59465177 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620124 S 4 0 1 LENG1,LILRA6,LILRB3,LILRB5,MBOAT7,RPS9,TMC4,TSEN34 NA15510 nsv9751 19 59354435 59389195 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27604,nssv28569 M 31 2 0 Samples from several populations that are part of the HapMap project. LENG1,MBOAT7,TMC4,TSEN34 NA18502,NA19221 dgv1118e1 19 59359391 59475333 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10052,essv9686,essv5674,essv17533,essv9088,essv11592,essv13928,essv17304,essv19564,essv17125,essv16784,essv21186,essv14718,essv16298,essv11795 M 271 0 0 LILRA6,LILRB2,LILRB3,LILRB5,MBOAT7,RPS9,TMC4,TSEN34 NA11830,NA12762,NA12864,NA18504,NA18605,NA18854,NA18856,NA18872,NA18913,NA19099,NA19132,NA19159,NA19161,NA19171,NA19173 nsv428371 19 59359391 59570403 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453763,nssv453765,nssv453762 M 62 2 1 LAIR1,LILRA3,LILRA4,LILRA5,LILRA6,LILRB2,LILRB3,LILRB5,MBOAT7,MIR4752,RPS9,TMC4,TSEN34 HGDP00462,HGDP00471,HGDP00472 dgv1119e1 19 59359391 60158136 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19951,essv10126,esv698,essv16929,essv23809,essv24879 M 271 0 0 CDC42EP5,FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,KIR3DX1,LAIR1,LAIR2,LENG8,LENG9,LILRA1,LILRA2,LILRA3,LILRA4,LILRA5,LILRA6,LILRB1,LILRB2,LILRB3,LILRB4,LILRB5,LILRP2,MBOAT7,MIR4752,NCR1,NLRP7,RPS9,TMC4,TSEN34,TTYH1 NA07000,NA12763,NA12813,NA19130,NA19144 esv1685576 19 59367845 59367993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901530 S 2 0 1 TMC4 HuRef esv1201253 19 59377258 59377534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364115 S 2 0 1 MBOAT7 HuRef nsv2546 19 59378308 59466337 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4373,nssv11003,nssv9341 M 9 0 3 LILRA6,LILRB3,LILRB5,MBOAT7,RPS9,TSEN34 NA12878,NA15510,NA18517 nsv458783 19 59391198 59440823 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535684 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LILRA6,LILRB3,RPS9 HGDP00780 essv101799 19 59397400 59433175 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. LILRA6,LILRB3,RPS9 NA19238 dgv1120e1 19 59398234 59457974 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv620,essv8549 M 271 0 0 LILRA6,LILRB3,LILRB5,RPS9 NA18503,NA18998 dgv1121e1 19 59398234 59491567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14217,essv12003,essv8498,essv16592,essv8026,essv22806 M 271 0 0 LILRA6,LILRB2,LILRB3,LILRB5,MIR4752,RPS9 NA12753,NA18854,NA18860,NA18871,NA18913,NA19141 dgv1122e1 19 59399676 59445355 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1534,essv19075,essv12061,essv17373 M 271 0 0 LILRA6,LILRB3,RPS9 NA11830,NA18517,NA19012,NA19238 dgv432n27 19 59401089 59435029 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458786,nsv458784 M 1557 0 2 LILRA6,LILRB3,RPS9 HGDP00045,HGDP01309 nsv912399 19 59403070 59451383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530990 S 6533 0 1 LILRA6,LILRB3,LILRB5,RPS9 MS10311 nsv183 19 59408310 59460933 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv183 S 1 0 1 LILRA6,LILRB3,LILRB5 NA15510 nsv517129 19 59409113 59442877 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664982,nssv667573,nssv689578,nssv671938,nssv669034,nssv654402,nssv662045,nssv693166,nssv666436,nssv673673,nssv680042,nssv656335,nssv658253,nssv658674,nssv693663,nssv682402,nssv679048,nssv653172,nssv667945,nssv666824,nssv676325,nssv659336,nssv696766,nssv683593,nssv672705,nssv660372,nssv692708,nssv668879,nssv656782,nssv669623,nssv668352,nssv656823,nssv686738,nssv661275,nssv675728,nssv668551,nssv653823,nssv690776,nssv660711,nssv673901,nssv657788,nssv681970,nssv691626,nssv682655,nssv675562,nssv683449,nssv655148,nssv659872,nssv687868,nssv663127,nssv670912,nssv652383,nssv653608,nssv654955,nssv661167,nssv656973,nssv660016,nssv658717,nssv681506,nssv663149,nssv683648,nssv680083,nssv674562,nssv680348,nssv690101,nssv671294,nssv654100,nssv659398,nssv675524,nssv665444,nssv670204,nssv673401,nssv678008,nssv676381,nssv662100,nssv652897,nssv680647,nssv693228,nssv675965,nssv684278,nssv681577,nssv659835,nssv656118,nssv651744,nssv674308,nssv669529,nssv654932,nssv698043,nssv675058,nssv676215,nssv678220,nssv686553,nssv692649,nssv666344,nssv670164,nssv681254,nssv664033,nssv668174,nssv669274,nssv668829,nssv676744,nssv663702,nssv654006,nssv666394,nssv659223,nssv684358,nssv657989,nssv659938,nssv685181,nssv685372,nssv683949,nssv683020,nssv653159 M 2026 30 83 LILRA6,LILRB3 dgv4003n71 19 59409113 59493011 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912400,nsv912401 M 6533 0 2 LILRA3,LILRA6,LILRB2,LILRB3,LILRB5,MIR4752 IS32361,MS16153 nsv912402 19 59409113 59530106 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532836 S 6533 1 0 LILRA3,LILRA5,LILRA6,LILRB2,LILRB3,LILRB5,MIR4752 MS10871 esv1003658 19 59410750 59453547 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586012 S 3 1 0 LILRA6,LILRB3,LILRB5 HuRef nsv2547 19 59411385 59423104 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6800,nssv5757 M 9 2 0 LILRB3 NA12156,NA19129 nsv912403 19 59412770 59440823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508812 S 6533 1 0 LILRA6,LILRB3 SP54684 nsv912404 19 59414407 59440823 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502473,nssv1502071,nssv1511979,nssv1499638,nssv1506834,nssv1501053,nssv1514660,nssv1515500,nssv1499245,nssv1503374,nssv1500577,nssv1509204,nssv1502915,nssv1516945,nssv1503736,nssv1509528,nssv1506873,nssv1519313,nssv1502785,nssv1502163,nssv1503098,nssv1513059,nssv1514257,nssv1509267,nssv1503767,nssv1513628,nssv1501603,nssv1514545,nssv1515880,nssv1501746,nssv1508363,nssv1514767,nssv1509490,nssv1519068,nssv1503489,nssv1499733,nssv1518459,nssv1503248 M 6533 24 14 LILRA6,LILRB3 SP50082,SP50097,SP50099,SP50102,SP50695,SP50857,SP50859,SP51049,SP51115,SP51196,SP51411,SP51449,SP51485,SP52017,SP52051,SP52060,SP52101,SP52109,SP54408,SP54409,SP54636,SP54761,SP54774,SP54792,SP54816,SP55219,SP55671,SP55807,SP55986,SP56012,SP56042,SP56064,SP56207,SP56301,SP56987,SP57599,SP80936,SP81009 nsv912405 19 59414407 59442877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505803,nssv1505420,nssv1504770 M 6533 0 3 LILRA6,LILRB3 SP52728,SP53473,SP53969 nsv9752 19 59414575 59440302 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25472,nssv24693,nssv27071,nssv27642,nssv24624,nssv27598,nssv28601,nssv22181,nssv27852,nssv21815,nssv25990,nssv28570,nssv27051,nssv27061,nssv24972,nssv25939,nssv25390,nssv25376,nssv26010,nssv25554,nssv27590,nssv27475 M 31 10 6 Samples from several populations that are part of the HapMap project. LILRA6,LILRB3 NA07048,NA10839,NA10847,NA11830,NA12872,NA18502,NA18504,NA18517,NA18564,NA18853,NA18860,NA18975,NA18980,NA19132,NA19173,NA19221 esv6034 19 59415591 59435361 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28475 S 1 0 1 LILRA6,LILRB3 SJK esv989644 19 59415605 59421936 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563818 S 3 1 0 LILRB3 HuRef esv23225 19 59415731 59440844 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16399,esv11047,esv18565,esv20157,esv11279,esv12215 M 451 24 9 LILRA6,LILRB3 NA07037,NA07045,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 dgv598n67 19 59416187 59436142 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828626,nsv828627,nsv828628 M 31 4 0 LILRA6,LILRB3 NA18564,NA18582,NA18947,NA18999 nsv514901 19 59416384 59431960 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628338 S 1414 0 0 LILRB3 dgv1123e1 19 59416447 59435029 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8011,essv22274,essv12919,essv15934,essv3616,essv1335,essv6490,essv11357,essv24119,essv19798,essv13397,essv12881 M 271 0 0 LILRA6,LILRB3 NA07048,NA12762,NA12864,NA18502,NA18515,NA18636,NA18858,NA18872,NA18966,NA18973,NA19094,NA19221 dgv1124e1 19 59416447 59446197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8577,essv22721,essv741,essv13955,essv10961,essv1291,essv18495,essv11056,essv14934,essv5881,essv12079,essv20748,essv13362,essv25173,essv12105,essv14821,essv7472,essv2715,essv8062,essv12910 M 271 0 0 LILRA6,LILRB3,LILRB5 NA07357,NA11840,NA12156,NA12239,NA18522,NA18562,NA18633,NA18870,NA18944,NA18980,NA19003,NA19092,NA19099,NA19130,NA19132,NA19138,NA19159,NA19160,NA19161,NA19173 dgv1125e1 19 59416447 59473655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1044,essv13293,essv24166,essv2119,essv18523,essv9309,essv20875,essv13265,essv990 M 271 0 0 LILRA6,LILRB2,LILRB3,LILRB5 NA12145,NA12751,NA12763,NA18852,NA18959,NA18964,NA18975,NA19201,NA19202 nsv513760 19 59417410 59437716 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627012 S 1 1 0 LILRA6,LILRB3 1 nsv498906 19 59419083 59439891 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585767 S 9 0 1 LILRA6 dgv77e180 19 59420261 59436343 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988540,esv1006146 M 3 1 0 LILRA6 HuRef esv32835 19 59421840 59435034 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101575,essv97526,essv101158,essv93802,essv96851,essv100933,essv95133,essv94696,essv93988,essv101294,essv94464,essv97000,essv97934,essv95640,essv95498,essv93068,essv95409,essv97433,essv101777,essv95787,essv94537,essv98972,essv92901,essv92821,essv93629,essv96219,essv96694,essv97132,essv98601,essv96044,essv93560,essv93398,essv99699,essv95035,essv92540,essv98046,essv96549,essv99334,essv97740,essv100142,essv100521,essv100399,essv99432,essv98430,essv96386,essv94288 M 51 46 0 LILRA6 21603,21616,21618,21634,21659,21693,21721,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 nsv442773 19 59422012 59433131 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LILRA6 esv2421809 19 59422014 59435029 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5026288,essv5098800,essv5036270,essv5060253,essv5141172,essv5118677,essv5034101,essv5059181,essv5024708,essv5135964,essv5053987,essv5133256,essv5078827,essv5046982,essv5124832,essv5104578,essv5079445,essv5052333,essv5152530,essv5021650,essv5156000,essv5138354,essv5109784,essv5006668,essv5114427,essv5141987,essv5153018,essv5069756,essv5134015,essv5148967,essv5094655,essv5011214,essv5117244,essv5110659,essv5072978,essv5113369,essv5030383,essv5151117,essv5006215,essv5073270,essv5144233,essv5024900,essv5075391,essv5023260,essv5067664,essv5035459,essv5157095,essv5092658,essv5158658,essv5017398,essv5146083,essv5026706,essv5086768,essv5056388,essv5099706,essv5070033,essv5140399,essv5101387,essv5102542,essv5027319,essv5139329,essv5125078,essv5082536,essv5077143,essv5122006,essv5032147,essv5122062,essv5050737,essv5136316,essv5014272,essv5129659,essv5086888,essv5046484,essv5070430,essv5151540,essv5155590,essv5092997,essv5002271,essv5130901,essv5043277,essv5078015,essv5071890,essv5073803,essv5126747,essv5121070,essv5013419,essv5054056,essv5062358,essv5110108,essv5029848,essv5130361,essv5035389,essv5139498,essv5156064,essv5149359,essv5160466,essv5018800,essv5056234,essv5160294,essv5028857,essv5081785,essv5081770,essv5048202,essv5053917,essv5072768,essv5006746,essv5091948,essv5035910,essv5097214,essv5057189,essv5007750,essv5005019,essv5043909,essv5101132,essv5048080,essv5149702,essv5057227,essv5120578,essv5104985,essv5146572,essv5010146,essv5057777,essv5020506,essv5077423,essv5123455,essv5107234,essv5058089,essv5064390,essv5135170,essv5145091,essv5031316,essv5081558,essv5138883,essv5137181,essv5011767,essv5113293,essv5032362,essv5095711,essv5129002,essv5070268,essv5131511,essv5135862,essv5054935,essv5140423,essv5145700,essv5056552,essv5155916,essv5033424,essv5099245,essv5138908,essv5142710,essv5036769,essv5115792,essv5104181,essv5080558,essv5097168,essv5095298,essv5083505,essv5014402,essv5081199,essv5065154,essv5028089,essv5110064,essv5071063,essv5057845,essv5104359,essv5157120,essv5010453,essv5137560,essv5026633,essv5102816,essv5096186,essv5160762,essv5131011,essv5084288,essv5157307,essv5117005,essv5051939,essv5129197,essv5116121,essv5076604,essv5051909,essv5136871,essv5070800,essv5050912,essv5014648,essv5056450,essv5017864,essv5148689,essv5148646,essv5042709,essv5021401,essv5031875,essv5150967,essv5142994,essv5128788,essv5029874,essv5052155,essv5085438,essv5111604,essv5010308,essv5015156,essv5055349,essv5124614,essv5137788,essv5135213,essv5157488,essv5028377,essv5137008,essv5045459,essv5152877,essv5041533,essv5146331,essv5143665,essv5089726,essv5085960,essv5099469,essv5014857,essv5072697,essv5081744,essv5085315,essv5115317,essv5123582,essv5075024,essv5055722,essv5041868,essv5044068,essv5122113,essv5079134,essv5029613,essv5133397,essv5069280,essv5042598,essv5108675,essv5027344,essv5108484,essv5151039,essv5106151,essv5014702,essv5002836,essv5003066,essv5074618,essv5007075,essv5104155,essv5095517,essv5049248,essv5095752,essv5114474,essv5005862,essv5072287,essv5090844,essv5040231,essv5041795,essv5144108,essv5009610,essv5026694,essv5143201,essv5092110,essv5032762,essv5034260,essv5114320,essv5079127,essv5070174,essv5141016,essv5142361,essv5099767,essv5119239,essv5090542,essv5017651,essv5066717,essv5041417,essv5134950,essv5054191,essv5014818,essv5029645,essv5037242,essv5017690,essv5094614,essv5019276,essv5156908,essv5069747,essv5101036,essv5060622,essv5081835,essv5035835,essv5006911,essv5069509,essv5148569,essv5045673,essv5155038,essv5104730,essv5144679,essv5089607,essv5132446,essv5094954,essv5140054,essv5085464,essv5076713,essv5047603,essv5160945,essv5140043,essv5132200,essv5031499,essv5070500,essv5151879,essv5133562,essv5139115,essv5111007,essv5063532,essv5017246,essv5128266,essv5111090,essv5003322,essv5143346,essv5027954,essv5114940,essv5023276,essv5025614,essv5073180,essv5151763,essv5094982,essv5038639,essv5006406,essv5053198,essv5007498,essv5030962,essv5150176,essv5083021,essv5098887,essv5146944,essv5010358,essv5032776,essv5095573,essv5081238,essv5112242,essv5020648,essv5076644,essv5092058,essv5006530,essv5102381,essv5028840,essv5067406,essv5105425,essv5155782,essv5023507,essv5098688,essv5143801,essv5134362,essv5075157,essv5011553,essv5045029,essv5113127,essv5100578,essv5092475,essv5031460,essv5092930,essv5125738,essv5117382,essv5073742,essv5040549,essv5039545,essv5097002,essv5096554,essv5052567,essv5084192,essv5107210,essv5030203,essv5111683,essv5158904,essv5063043,essv5150617,essv5087063,essv5059859,essv5053372,essv5060816,essv5136904,essv5149986,essv5064654,essv5045560,essv5120175,essv5078820,essv5042634,essv5111549,essv5049019,essv5008831,essv5133716,essv5073817,essv5154036,essv5042256,essv5151499,essv5035527,essv5108390,essv5009206,essv5119493,essv5068778,essv5125963,essv5075489,essv5096785,essv5034822,essv5137018,essv5066008,essv5063982,essv5074426,essv5009925,essv5069217,essv5006489,essv5083901,essv5029997,essv5126190,essv5067572,essv5016731,essv5074462,essv5042921,essv5145542,essv5145936,essv5021696,essv5090811,essv5024060,essv5079896,essv5161094,essv5122063,essv5003435,essv5063305,essv5127162,essv5125976,essv5023826,essv5092806,essv5067408,essv5153188,essv5101352,essv5150670,essv5157995,essv5039678,essv5090764,essv5145553,essv5148475,essv5030783,essv5124260,essv5002340,essv5043230,essv5127893,essv5130843,essv5008139 M 1184 329 114 LILRA6 NA06995,NA06997,NA07022,NA07037,NA07051,NA07055,NA07347,NA07348,NA07349,NA07357,NA10830,NA10836,NA10837,NA10839,NA10847,NA10853,NA11830,NA11832,NA11840,NA11843,NA11917,NA11919,NA11920,NA11931,NA12006,NA12044,NA12057,NA12145,NA12146,NA12154,NA12156,NA12234,NA12272,NA12273,NA12275,NA12336,NA12343,NA12344,NA12348,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12546,NA12749,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12767,NA12776,NA12777,NA12778,NA12801,NA12813,NA12832,NA12842,NA12843,NA12864,NA12875,NA12878,NA12891,NA12892,NA17966,NA17983,NA17990,NA18107,NA18112,NA18124,NA18135,NA18143,NA18154,NA18485,NA18486,NA18487,NA18489,NA18497,NA18501,NA18504,NA18511,NA18515,NA18517,NA18518,NA18544,NA18546,NA18562,NA18564,NA18582,NA18597,NA18605,NA18631,NA18633,NA18636,NA18694,NA18740,NA18852,NA18853,NA18854,NA18857,NA18858,NA18860,NA18861,NA18862,NA18867,NA18868,NA18870,NA18871,NA18872,NA18874,NA18909,NA18910,NA18911,NA18913,NA18916,NA18917,NA18923,NA18930,NA18933,NA18934,NA18935,NA18940,NA18944,NA18959,NA18964,NA18966,NA18973,NA18975,NA18980,NA18998,NA19002,NA19005,NA19027,NA19028,NA19031,NA19035,NA19041,NA19064,NA19065,NA19070,NA19074,NA19080,NA19081,NA19087,NA19094,NA19095,NA19096,NA19099,NA19101,NA19108,NA19114,NA19115,NA19121,NA19122,NA19129,NA19130,NA19132,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19154,NA19160,NA19161,NA19172,NA19173,NA19174,NA19176,NA19178,NA19180,NA19181,NA19182,NA19184,NA19186,NA19190,NA19191,NA19192,NA19198,NA19199,NA19201,NA19202,NA19209,NA19210,NA19214,NA19215,NA19221,NA19222,NA19235,NA19238,NA19239,NA19258,NA19307,NA19308,NA19313,NA19314,NA19315,NA19317,NA19319,NA19321,NA19324,NA19334,NA19347,NA19352,NA19359,NA19371,NA19375,NA19377,NA19379,NA19381,NA19383,NA19385,NA19391,NA19398,NA19399,NA19428,NA19429,NA19430,NA19431,NA19435,NA19436,NA19439,NA19443,NA19446,NA19448,NA19449,NA19451,NA19455,NA19456,NA19457,NA19463,NA19467,NA19468,NA19469,NA19470,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19652,NA19658,NA19661,NA19662,NA19686,NA19701,NA19703,NA19704,NA19705,NA19712,NA19713,NA19720,NA19721,NA19723,NA19724,NA19726,NA19749,NA19760,NA19771,NA19772,NA19773,NA19789,NA19790,NA19795,NA19796,NA19819,NA19828,NA19835,NA19836,NA19900,NA19902,NA19904,NA19908,NA19909,NA19914,NA19916,NA19919,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20276,NA20282,NA20290,NA20294,NA20297,NA20302,NA20317,NA20322,NA20332,NA20333,NA20334,NA20335,NA20337,NA20345,NA20349,NA20350,NA20356,NA20358,NA20359,NA20360,NA20363,NA20504,NA20506,NA20508,NA20509,NA20515,NA20517,NA20518,NA20519,NA20522,NA20524,NA20527,NA20529,NA20535,NA20538,NA20539,NA20540,NA20542,NA20544,NA20581,NA20752,NA20753,NA20756,NA20758,NA20761,NA20765,NA20770,NA20795,NA20800,NA20801,NA20802,NA20806,NA20812,NA20813,NA20816,NA20818,NA20826,NA20845,NA20850,NA20853,NA20854,NA20861,NA20869,NA20871,NA20874,NA20888,NA20894,NA20896,NA20902,NA20904,NA20906,NA21090,NA21091,NA21094,NA21100,NA21101,NA21112,NA21113,NA21123,NA21125,NA21141,NA21142,NA21143,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21320,NA21344,NA21352,NA21355,NA21357,NA21359,NA21362,NA21367,NA21371,NA21390,NA21391,NA21401,NA21402,NA21404,NA21414,NA21418,NA21420,NA21421,NA21424,NA21434,NA21438,NA21439,NA21441,NA21454,NA21455,NA21473,NA21475,NA21477,NA21478,NA21486,NA21489,NA21494,NA21510,NA21522,NA21526,NA21528,NA21573,NA21575,NA21577,NA21583,NA21587,NA21596,NA21599,NA21600,NA21608,NA21611,NA21614,NA21631,NA21632,NA21650,NA21678,NA21685,NA21686,NA21716,NA21722,NA21733,NA21776 nsv817867 19 59423491 59428132 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416613,nssv1416294,nssv1416305,nssv1418235,nssv1415604,nssv1417078,nssv1416206,nssv1416813,nssv1418236,nssv1418234,nssv1415603,nssv1416208,nssv1416207,nssv1416812 M 112 14 0 "" NA07000,NA10830,NA12154,NA12878,NA12891,NA12892,NA19140,NA19142,NA19143,NA19144,NA19145,NA19159,NA19161,NA19172 dgv433n27 19 59423491 59435029 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458787,nsv458789,nsv458788 M 1557 0 3 LILRA6 1780862584_A,HGDP00472,HGDP01419 nsv433320 19 59423491 59435029 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463201 S 9 0 1 LILRA6 NA15510 nsv817868 19 59423491 59435029 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416412,nssv1417951,nssv1416694,nssv1416893,nssv1417730,nssv1418417,nssv1416510,nssv1416811,nssv1417950,nssv1416614,nssv1416696,nssv1416283,nssv1418415,nssv1417700,nssv1416892,nssv1416612,nssv1416511,nssv1416411,nssv1417949,nssv1418416 M 112 13 7 LILRA6 NA10847,NA12146,NA12239,NA18515,NA18517,NA18852,NA18853,NA18854,NA18856,NA18857,NA18999,NA19003,NA19119,NA19120,NA19141,NA19160,NA19171,NA19173,NA19238,NA19239 nsv433322 19 59423491 59440823 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463203 S 9 0 1 Samples from several populations that are part of the HapMap project. LILRA6 NA18517 nsv817869 19 59423491 59442877 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418330,nssv1418329 M 112 0 2 LILRA6 NA19092,NA19094 dgv434n27 19 59423491 59454220 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458791,nsv458792,nsv458790 M 1557 3 0 LILRA6,LILRB5 1780854264_A,HGDP00206,NINDS_73 nsv817870 19 59423491 59455781 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418119 S 112 1 0 LILRA6,LILRB5 NA11882 dgv599n67 19 59428608 59429814 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828630,nsv828633,nsv828629,nsv828632 M 31 5 0 "" AK8,NA18552,NA18566,NA18592,NA18968 nsv821084 19 59428608 59430202 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420066 S 1 0 1 "" NA10851 esv1006598 19 59433698 59445896 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565786 S 3 1 0 LILRA6 HuRef dgv4004n71 19 59435029 59500426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912406,nsv912407 M 6533 0 2 LILRA3,LILRA6,LILRB2,LILRB5,MIR4752 IS33504,MS19488 nsv2548 19 59435067 59456844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4374,nssv5758 M 9 2 0 LILRA6,LILRB5 NA12878,NA19129 nsv528370 19 59442877 59480568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704957 S 2026 0 1 LILRB2,LILRB5,MIR4752 nsv435704 19 59444289 59470441 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465696 S 2 0 1 LILRB2,LILRB5 NA15510 nsv912408 19 59455781 59500426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524386,nssv1520576 M 6533 2 0 LILRA3,LILRB2,MIR4752 SP51146,SP55005 nsv833878 19 59464633 59721885 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454862,nssv1454861,nssv1454863 M 95 0 3 CDC42EP5,LAIR1,LAIR2,LENG8,LENG9,LILRA3,LILRA4,LILRA5,LILRB2,MIR4752,TTYH1 nsv9753 19 59465127 59471780 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25758 S 31 0 1 Samples from several populations that are part of the HapMap project. LILRB2 NA18537 nsv912409 19 59473655 59495191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506923 S 6533 1 0 LILRA3,LILRB2,MIR4752 SP54430 nsv442471 19 59477769 59491563 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR4752 nsv912410 19 59481078 59500426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505474 S 6533 1 0 LILRA3 SP53528 nsv527908 19 59481078 59588689 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704414 S 2026 1 0 LAIR1,LILRA3,LILRA4,LILRA5 nsv2549 19 59483883 59509050 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6801,nssv2239,nssv10197 M 9 0 3 LILRA3 NA12156,NA18555,NA18956 esv991182 19 59489567 59499645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564816 S 3 0 1 LILRA3 HuRef esv33839 19 59491525 59497078 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101469,essv97497,essv100958,essv95064,essv98330,essv94461,essv101634,essv96152,essv97195,essv93396,essv100202,essv100542,essv96266 M 51 0 13 LILRA3 21603,21616,21693,21721,21772,21808,21909,22007,22075,22170,22286,22298,22371 nsv9754 19 59491568 59501953 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26801,nssv26336,nssv25415,nssv26988,nssv27650,nssv25495,nssv24650,nssv27081,nssv28602,nssv24195,nssv27859,nssv27483,nssv27606,nssv22211 M 31 14 0 Samples from several populations that are part of the HapMap project. LILRA3 NA07029,NA07048,NA10839,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18860,NA19132,NA19144,NA19221,NA19240 nsv819942 19 59491587 59498902 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419822 S 2 0 1 LILRA3 AK1 nsv828634 19 59492058 59503174 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422352,nssv1432569,nssv1422294,nssv1435570,nssv1440757,nssv1434809,nssv1440056,nssv1428753,nssv1434104,nssv1439391,nssv1426282,nssv1438531,nssv1436974,nssv1431020,nssv1431382 M 31 0 15 LILRA3 AK10,AK16,AK20,AK4,NA18526,NA18537,NA18564,NA18570,NA18592,NA18942,NA18947,NA18951,NA18969,NA18973,NA18997 nsv821486 19 59492114 59497392 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420067 S 1 0 1 LILRA3 NA10851 nsv510775 19 59492127 59512849 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622756 S 4 0 1 LILRA3,LILRA5 NA18994 esv28827 19 59492209 59503174 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15892 S 451 30 1 LILRA3 NA06985,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv998993 19 59492450 59497392 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587136 S 3 0 1 LILRA3 HuRef nsv828635 19 59492450 59497392 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427172,nssv1424679,nssv1437864,nssv1429509,nssv1430259,nssv1436264,nssv1430885,nssv1423876,nssv1433358,nssv1423372,nssv1431746,nssv1423046,nssv1427957,nssv1425432 M 31 0 14 LILRA3 AK12,AK14,AK18,AK2,AK6,AK8,NA18547,NA18552,NA18566,NA18582,NA18949,NA18968,NA18972,NA18999 esv8385 19 59492667 59499522 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30826 S 1 0 1 LILRA3 SJK nsv498907 19 59492672 59499433 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585768 S 9 0 1 LILRA3 esv2435205 19 59501985 59504014 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194247 S 1 0 1 "" NA18507 nsv512594 19 59502136 59503970 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625205 S 1 0 1 "" 1 esv1349906 19 59502407 59502407 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188564 S 2 1 0 "" HuRef esv990257 19 59502460 59503399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565395 S 3 0 1 "" HuRef nsv912411 19 59527583 59544422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571991 S 6533 0 1 LILRA4 IS32841 nsv912412 19 59531270 59549723 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566298 S 6533 1 0 LILRA4 IS30635 nsv828636 19 59547863 59548443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423877,nssv1439392,nssv1438532 M 31 0 3 "" NA18951,NA18973,NA18999 esv2256723 19 59552554 59552869 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509216 S 1 0 1 "" NA18507 esv29126 19 59552673 59553592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11580 S 451 0 5 "" NA11993,NA18505,NA18508,NA18511,NA18517 nsv820324 19 59552673 59553592 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420068 S 1 1 0 "" NA10851 esv1030706 19 59552772 59552772 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874497 S 2 1 0 "" HuRef nsv9755 19 59584932 59591675 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25780 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv828637 19 59586098 59587298 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440057 S 31 0 1 "" NA18537 nsv2550 19 59606665 59619628 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4375,nssv6802 M 9 2 0 TTYH1 NA12156,NA12878 esv998950 19 59611221 59612520 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564133 S 3 1 0 "" HuRef nsv513533 19 59611905 59612176 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625948 S 1 1 0 "" 1 nsv9756 19 59616540 59634757 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27658,nssv28603 M 31 2 0 Samples from several populations that are part of the HapMap project. TTYH1 NA18502,NA19221 esv2534395 19 59616720 59617444 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189541 S 1 1 0 "" NA18507 esv7519 19 59617034 59617224 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29960 S 1 0 1 "" SJK nsv2551 19 59628953 59642119 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10198 S 9 1 0 TTYH1 NA18956 nsv9758 19 59651609 59653424 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26998 S 31 1 0 Samples from several populations that are part of the HapMap project. LENG8 NA19240 nsv912413 19 59656420 59671530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511283 S 6533 0 1 CDC42EP5,LENG8,LENG9 SP55019 nsv512595 19 59692494 59696062 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625206 S 1 0 1 "" 1 nsv137938 19 59693507 59693572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156516 M 24 "" nsv138515 19 59693657 59693908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157093 M 24 "" nsv138300 19 59717591 59726858 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156878 M 24 "" dgv4005n71 19 59718210 59846092 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912415,nsv912414 M 6533 0 2 KIR3DX1,LILRA1,LILRA2,LILRB1 IS35770,IS38633 nsv522872 19 59721995 59840299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698527 S 2026 0 1 KIR3DX1,LILRA1,LILRA2,LILRB1 dgv435n27 19 59721995 59848854 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458795,nsv458798,nsv458797 M 1557 0 3 KIR3DX1,LILRA1,LILRA2,LILRB1 HGDP00388,HGDP00957,HGDP01242 nsv470158 19 59721995 59869952 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546571,nssv546570 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIR3DX1,LILRA1,LILRA2,LILRB1,LILRB4 HGDP00388,HGDP00579 nsv518262 19 59729127 59738299 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695693 S 2026 1 0 KIR3DX1 nsv828638 19 59737390 59738342 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422295 S 31 0 1 KIR3DX1 NA18997 esv2118143 19 59748179 59748542 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878157 S 1 0 1 "" NA18507 esv1013807 19 59748317 59748390 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659675 S 2 0 1 "" HuRef esv7755 19 59777242 59797627 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30196 S 1 0 1 LILRA1,LILRA2 SJK dgv16e196 19 59778542 59950557 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422228,esv2422385 M 181 1 0 KIR2DL3,KIR3DL3,LILRA1,LILRA2,LILRB1,LILRB4,LILRP2 ND05027 dgv17e196 19 59779270 59936708 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422234,esv2422470,esv2422364 M 181 0 3 KIR3DL3,LILRA1,LILRA2,LILRB1,LILRB4,LILRP2 ND01666,ND03403,ND05165 esv2519988 19 59783262 59786604 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283138 S 1 0 1 LILRA2 NA18507 nsv9759 19 59790016 59793368 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22300 S 31 1 0 Samples from several populations that are part of the HapMap project. LILRA2 NA12802 dgv1126e1 19 59799647 60158136 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10754,essv4568,essv3168,essv21113,essv23688,essv4391,essv24494,essv16442,essv21059,essv7298,essv5506,essv7759,essv2072,essv17444 M 271 0 0 FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRA1,LILRB1,LILRB4,LILRP2,NCR1,NLRP7 NA06991,NA10863,NA12043,NA12802,NA12815,NA18523,NA18524,NA18542,NA18573,NA18592,NA18632,NA18949,NA19012,NA19139 nsv428372 19 59799647 60158136 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453780,nssv453777,nssv453774,nssv453785,nssv453776,nssv453784,nssv453782,nssv453779,nssv453787,nssv453778,nssv453783,nssv453781 M 62 11 1 FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRA1,LILRB1,LILRB4,LILRP2,NCR1,NLRP7 HGDP00449,HGDP00460,HGDP00473,HGDP00474,HGDP00984,HGDP00986,HGDP01086,HGDP01089,HGDP01094,NA18916,NA19108,NA19257 nsv516569 19 59803539 59855149 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698489,nssv702424,nssv679756,nssv698613,nssv669245 M 2026 2 3 LILRA1,LILRB1 esv2304491 19 59805229 59805632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610890 S 1 0 1 "" NA18507 nsv458799 19 59821717 59869741 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535698 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LILRB1,LILRB4 HGDP01229 dgv4006n71 19 59835264 59875226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912418,nsv912416,nsv912417 M 6533 0 9 LILRB1,LILRB4 IS40491,MS10837,MS12234,MS18311,MS18652,MS24419,MS24450,MS24563,SP54626 nsv9760 19 59839753 59870894 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25802 S 31 0 1 Samples from several populations that are part of the HapMap project. LILRB1,LILRB4 NA18537 nsv828639 19 59840231 59869813 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440058 S 31 0 1 LILRB1,LILRB4 NA18537 nsv470159 19 59840299 59869952 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546573,nssv546572 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LILRB1,LILRB4 HGDP00948,HGDP01229 nsv523723 19 59840299 59869952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699538 S 2026 0 1 LILRB1,LILRB4 nsv817871 19 59840299 59869952 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417112 S 112 0 1 LILRB1,LILRB4 NA18537 nsv912419 19 59846092 59875226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520188,nssv1554396,nssv1523970,nssv1578039 M 6533 0 4 LILRB4 IS34645,MS20784,SP50742,SP54312 esv1216730 19 59848509 59848595 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723737 S 2 0 1 "" HuRef essv4924 19 59850663 59886999 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LILRB4 NA18537 esv2422341 19 59857960 59880396 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161236 S 181 1 0 LILRB4 ND03746 nsv518953 19 59865354 59875226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696421 S 2026 0 1 LILRB4 nsv833879 19 59865879 60069408 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454866,nssv1454865,nssv1454864 M 95 1 2 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRB4,LILRP2 nsv524470 19 59866025 59875226 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700408 S 2026 1 0 LILRB4 dgv1127e1 19 59878067 60158136 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15604,essv10400,essv9953 M 271 0 0 FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRP2,NCR1,NLRP7 NA19137,NA19204,NA19222 esv32713 19 59879758 59885221 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97542 S 51 0 1 "" 21616 esv1001297 19 59883700 59883777 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567705 S 3 0 1 "" HuRef esv1212374 19 59883841 59883919 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706150 S 2 0 1 "" HuRef esv2227375 19 59885890 59886278 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556640 S 1 0 1 "" NA18507 esv27025 19 59894904 59897249 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20491 S 451 0 2 "" NA11993,NA12287 esv2076893 19 59895638 59895962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595009 S 1 0 1 "" NA18507 esv1520145 19 59895897 59896350 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025487 S 2 0 1 "" HuRef dgv1128e1 19 59906801 60085534 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12072,essv8567,essv15968,essv10495,essv17222,essv13494 M 271 0 0 FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRP2 NA18857,NA18914,NA19130,NA19142,NA19143,NA19238 nsv469656 19 59909221 60083800 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649584 M 265 0 13 Samples from several populations that are part of the HapMap project. FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRP2 nsv471706 19 59909222 60083800 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549907,nssv549898,nssv549901,nssv549902,nssv549905,nssv549897,nssv549900,nssv549903,nssv549899,nssv549906,nssv549904 M 48 0 11 FCAR,KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRP2 JK1051,JK1058,JK1061,NA10471,NA10492,NA10970,NA11523,NA11776,NA15726,NA15732,NA17017 esv1478232 19 59915770 59915770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842160 S 2 1 0 LILRP2 HuRef nsv437834 19 59916697 60065174 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467715 S 60 0 1 Samples from several populations that are part of the HapMap project. KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3,LILRP2 NA18521 nsv517143 19 59917647 60069820 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652769,nssv666101,nssv688884,nssv687724,nssv684316,nssv675171,nssv666153,nssv667467,nssv658125,nssv686161,nssv671228,nssv673788,nssv673027,nssv666128,nssv685814,nssv658431,nssv674805,nssv688996,nssv655505,nssv665824,nssv692148,nssv687937,nssv696232,nssv692992,nssv680912,nssv681121,nssv669868,nssv672283,nssv687694,nssv688839,nssv665801,nssv684528,nssv660289,nssv688591,nssv664898,nssv656231,nssv680744,nssv688188,nssv674905,nssv654933,nssv660333,nssv659820,nssv653860,nssv675468,nssv690833,nssv663731,nssv691671,nssv652899,nssv660591,nssv693435,nssv658718,nssv671967,nssv663398,nssv676660,nssv677656,nssv669378,nssv666458,nssv689457,nssv674342,nssv692378,nssv692001,nssv681971,nssv662697,nssv656459,nssv683450,nssv662146,nssv688139,nssv667899,nssv672677,nssv678572,nssv685844,nssv658455,nssv659853,nssv669671,nssv680884,nssv673537,nssv658284,nssv683051,nssv661607,nssv681766,nssv651845,nssv675198,nssv675602,nssv678242,nssv680858,nssv668942,nssv661168,nssv682943,nssv681282,nssv673109,nssv680170,nssv674606,nssv693167,nssv682731,nssv654051,nssv687327,nssv690325,nssv669452,nssv659452,nssv684995,nssv655448,nssv686952,nssv670239,nssv680772,nssv678792,nssv656141,nssv653954,nssv678072,nssv677275,nssv686384,nssv670961,nssv676468,nssv685457,nssv657741,nssv660958,nssv674720,nssv673507,nssv664851,nssv692544,nssv671295,nssv692314,nssv692515,nssv687069,nssv660453,nssv669012,nssv692059,nssv687107,nssv682983,nssv663890,nssv671939,nssv653901,nssv675793,nssv662492,nssv686872,nssv692673,nssv659986,nssv672706,nssv667401 M 2026 23 115 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3 dgv4007n71 19 59919691 60054671 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv912430,nsv912421 M 6533 7 4 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3 IS30096,IS31041,IS38099,MS11271,MS13169,MS14601,MS16824,MS17900,MS18021,SP55160,SP55611 dgv4008n71 19 59919691 60069820 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912426,nsv912423,nsv912422,nsv912420,nsv912424,nsv912425 M 6533 21 0 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3 IS31044,IS31194,IS31563,IS34962,IS35489,IS36973,IS37874,IS38421,IS38646,IS39011,IS39365,IS39944,IS40799,MS13205,MS16357,MS17677,MS18843,MS18929,MS22789,MS24265,MS25275 esv26630 19 59931522 60071017 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15504,esv17863,esv9800,esv12313,esv18546,esv11708,esv10719,esv14841,esv21059,esv12040 M 451 15 5 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2,KIR3DL3 NA07045,NA11931,NA11995,NA12006,NA12239,NA12828,NA12878,NA15510,NA18508,NA18523,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240,NA19257 nsv9761 19 59939167 60028176 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27008,nssv27866,nssv25518,nssv27048,nssv26030,nssv27058,nssv25824,nssv26353,nssv22330 M 31 2 5 Samples from several populations that are part of the HapMap project. KIR2DL1,KIR2DL3,KIR2DL4,KIR3DL1,KIR3DL3 NA11830,NA12802,NA18537,NA18860,NA19144,NA19173,NA19240 esv32828 19 59939799 60043746 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92732,essv98113 M 51 0 2 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL3 21944,22259 dgv1129e1 19 59939919 60049236 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7987,essv4938,essv5424,essv20983,essv23308,essv6095,essv16562,essv8996,essv11468,essv4207,essv6444,essv8691,essv8964 M 271 0 0 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1 NA10863,NA12264,NA18537,NA18542,NA18573,NA18592,NA18609,NA18856,NA18912,NA19139,NA19193,NA19194,NA19240 dgv144e55 19 59939919 60074863 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751802,esv2751804,esv2751803 M 771 3 0 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2 BEC_5,BEC_505,BEC_625 essv8523 19 59940064 59971780 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIR2DL3 NA18523 essv19144 19 59940064 59993623 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIR2DL1,KIR2DL3 NA12812 nsv912427 19 59941382 60069820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556021 S 6533 0 1 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2 MS21738 dgv145e55 19 59942897 60049236 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751806,esv2751805 M 771 0 2 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1 BEC_792,SPC_184 nsv912428 19 59944232 60001297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518305,nssv1513622 M 6533 0 2 KIR2DL1,KIR2DL3 SP55807,SP57485 essv14850 19 59946625 60018425 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIR2DL1,KIR2DL3,KIR2DL4 NA19119 nsv436250 19 59950533 59984822 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465697 S 2 0 1 Samples from several populations that are part of the HapMap project. KIR2DL1,KIR2DL3 NA18505 esv2421952 19 59951765 60040503 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028971,essv5056428,essv5046650,essv5038407,essv5089692,essv5156611,essv5100654,essv5054841,essv5086629,essv5129637,essv5042394,essv5078628,essv5018300,essv5088644,essv5110454,essv5130704,essv5075898,essv5058895,essv5007915,essv5133954,essv5142841,essv5039161,essv5054617,essv5158648,essv5120727,essv5031952,essv5023170,essv5095798,essv5022756,essv5159350,essv5004469,essv5089581,essv5006217,essv5039477,essv5068093,essv5053986,essv5089017,essv5087033,essv5048988,essv5117118,essv5062039,essv5061829,essv5117867,essv5052526,essv5160219,essv5031809,essv5018391,essv5055833,essv5097063,essv5119790,essv5064724,essv5094372,essv5096697,essv5158763,essv5059677,essv5010643,essv5138705,essv5141793,essv5002254,essv5127409,essv5137780,essv5035982,essv5129686,essv5128664,essv5099673,essv5081430,essv5108348,essv5021797,essv5039474,essv5119379,essv5073904,essv5009585,essv5060355,essv5050008,essv5055197,essv5130931,essv5091496,essv5151553,essv5045480,essv5100086,essv5082525,essv5134947,essv5045350,essv5069845,essv5081235,essv5025043,essv5038715,essv5064723,essv5004528,essv5114662,essv5010684,essv5061826,essv5033085,essv5096884,essv5096728,essv5077478,essv5102002 M 1184 0 97 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1 NA10865,NA11891,NA12827,NA17982,NA17990,NA18124,NA18537,NA18573,NA18592,NA18609,NA18613,NA18643,NA18857,NA18910,NA18911,NA18912,NA18914,NA19028,NA19041,NA19046,NA19074,NA19119,NA19122,NA19128,NA19137,NA19139,NA19141,NA19142,NA19143,NA19146,NA19147,NA19148,NA19181,NA19184,NA19186,NA19193,NA19194,NA19204,NA19236,NA19238,NA19240,NA19248,NA19307,NA19309,NA19310,NA19311,NA19319,NA19332,NA19359,NA19371,NA19372,NA19385,NA19390,NA19404,NA19449,NA19462,NA19473,NA19712,NA19789,NA19834,NA19909,NA19919,NA20282,NA20284,NA20294,NA20295,NA20342,NA20506,NA20527,NA20758,NA20869,NA20888,NA20894,NA20895,NA20899,NA21091,NA21092,NA21097,NA21100,NA21109,NA21125,NA21297,NA21312,NA21313,NA21314,NA21360,NA21363,NA21415,NA21423,NA21521,NA21574,NA21578,NA21613,NA21616,NA21648,NA21686,NA21740 dgv4009n71 19 59951765 60052298 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912429,nsv912434 M 6533 0 2 KIR2DL1,KIR2DL3,KIR2DL4,KIR2DS4,KIR3DL1 SP52008,SP53583 dgv4010n71 19 59959017 60052298 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912432,nsv912431,nsv912433 M 6533 4 0 KIR2DL1,KIR2DL4,KIR2DS4,KIR3DL1 SP55019,SP56848,SP57226,SP57640 esv6207 19 59965910 59980481 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28648 S 1 0 1 KIR2DL1 SJK nsv514902 19 59968064 60038124 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627195 S 1414 0 0 KIR2DL1,KIR2DL4,KIR2DS4,KIR3DL1 essv15906 19 59971717 60018425 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIR2DL1,KIR2DL4 NA19205 dgv1130e1 19 59971717 60049236 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9496,essv12020,essv12894,essv11338,essv924 M 271 0 0 KIR2DL1,KIR2DL4,KIR2DS4,KIR3DL1 NA18521,NA18522,NA18949,NA19128,NA19141 nsv138103 19 59972799 59972799 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156681 M 24 "" dgv4011n71 19 59986141 60038236 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912436,nsv912435 M 6533 0 13 KIR2DL1,KIR2DL4,KIR2DS4,KIR3DL1 SP50119,SP52051,SP54430,SP54551,SP54626,SP55277,SP55596,SP56458,SP56890,SP56922,SP56960,SP57199,SP81015 dgv4012n71 19 59989664 60052298 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912442,nsv912437 M 6533 5 0 KIR2DL4,KIR2DS4,KIR3DL1 SP55610,SP55663,SP55926,SP56289,SP56874 nsv442774 19 59989695 60018421 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIR2DL4 essv9282 19 59991881 60007809 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIR2DL4 NA19137 dgv4013n71 19 59993439 60040503 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912438,nsv912439,nsv912440 M 6533 3 0 KIR2DL4,KIR2DS4,KIR3DL1 SP56313,SP56947,SP57347 nsv470160 19 59993623 60018550 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546591,nssv546582,nssv546589,nssv546576,nssv546584,nssv546580,nssv546585,nssv546578,nssv546579,nssv546574,nssv546577,nssv546583,nssv546590,nssv546581 M 443 0 14 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIR2DL4 HGDP00313,HGDP00463,HGDP00478,HGDP00621,HGDP00629,HGDP00789,HGDP00913,HGDP00919,HGDP00924,HGDP00982,HGDP00983,HGDP01028,HGDP01029,HGDP01418 nsv470161 19 59993623 60018550 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546597,nssv546596,nssv546598,nssv546594,nssv546593,nssv546592,nssv546595,nssv546600 M 443 8 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIR2DL4 HGDP00448,HGDP00557,HGDP00564,HGDP00599,HGDP00677,HGDP00680,HGDP00689,HGDP01089 dgv436n27 19 59993623 60018551 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458806,nsv458809,nsv458803 M 1557 3 0 KIR2DL4 NINDS_197,NINDS_246,NINDS_84 dgv437n27 19 59993623 60018551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458801,nsv458805,nsv458802,nsv458808,nsv458804 M 1557 0 5 KIR2DL4 NINDS_158,NINDS_196,NINDS_218,NINDS_224,NINDS_39 nsv817872 19 59993623 60018551 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417331,nssv1417152,nssv1416984,nssv1416697,nssv1416897,nssv1416316,nssv1418238,nssv1416327,nssv1416896,nssv1416982,nssv1418524,nssv1417391,nssv1416413,nssv1416414,nssv1417113,nssv1418526 M 112 2 14 KIR2DL4 NA18537,NA18542,NA18609,NA18856,NA18857,NA18949,NA19119,NA19137,NA19139,NA19141,NA19142,NA19143,NA19193,NA19194,NA19238,NA19240 nsv458810 19 59993623 60069820 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535708 S 1557 0 1 KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2 NINDS_159 dgv438n27 19 59993623 60084567 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458811,nsv458826 M 1557 2 0 FCAR,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2 NINDS_114,NINDS_237 nsv912441 19 60001297 60052298 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506718,nssv1499818,nssv1518695 M 6533 2 1 KIR2DL4,KIR2DS4,KIR3DL1 SP50530,SP54395,SP57921 nsv912443 19 60007252 60084567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566438 S 6533 0 1 FCAR,KIR2DL4,KIR2DS4,KIR3DL1,KIR3DL2 IS30720 dgv439n27 19 60014787 60018551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458831,nsv458830,nsv458832 M 1557 0 3 KIR2DL4 HGDP00554,HGDP00857,HGDP00913 nsv9762 19 60025232 60040336 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22360 S 31 1 0 Samples from several populations that are part of the HapMap project. KIR2DS4,KIR3DL1 NA12802 esv7080 19 60030397 60048220 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29521 S 1 0 1 KIR2DS4,KIR3DL1 SJK esv2477686 19 60030604 60048449 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361811 S 1 0 1 KIR2DS4,KIR3DL1 NA18507 nsv471417 19 60035986 60051835 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548219,nssv548220,nssv548221 M 3 KIR2DS4 nsv138073 19 60036607 60036798 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156651 M 24 KIR2DS4 nsv9763 19 60039278 60046008 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25845 S 31 0 1 Samples from several populations that are part of the HapMap project. KIR2DS4 NA18537 nsv9764 19 60043738 60052858 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22390,nssv24462 M 31 2 0 Samples from several populations that are part of the HapMap project. KIR2DS4 NA10863,NA12802 esv32688 19 60043739 60071782 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97889,essv93006,essv93647,essv96084,essv93520,essv93244 M 51 0 6 KIR2DS4,KIR3DL2 21837,21863,21972,22007,22128,22170 nsv9765 19 60058682 60069725 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22450 S 31 1 0 Samples from several populations that are part of the HapMap project. KIR3DL2 NA12802 nsv520644 19 60092982 60143609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697534 S 2026 0 1 FCAR,NCR1,NLRP7 nsv833880 19 60093130 60270523 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454867 S 95 0 1 FCAR,GP6,NCR1,NLRP2,NLRP7,RDH13 esv1600155 19 60097740 60097791 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653759 S 2 0 1 "" HuRef nsv912444 19 60124341 60193646 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582418 S 6533 1 0 NLRP2,NLRP7 IS35940 nsv9766 19 60146836 60152724 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24221 S 31 0 1 Samples from several populations that are part of the HapMap project. NLRP7 NA07029 nsv9767 19 60165407 60174941 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27068,nssv24488,nssv27873,nssv25509,nssv26812 M 31 5 0 Samples from several populations that are part of the HapMap project. NLRP2 NA10863,NA12155,NA18860,NA19007,NA19240 esv25586 19 60168046 60169697 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15184 S 451 11 0 NLRP2 NA11931,NA12239,NA12749,NA12878,NA15510,NA18505,NA18517,NA18909,NA19108,NA19147,NA19240 nsv821136 19 60168046 60169697 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420069 S 1 0 1 NLRP2 NA10851 nsv512596 19 60178111 60180800 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625207 S 1 0 1 NLRP2 1 dgv4014n71 19 60207784 60256851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912447,nsv912445 M 6533 0 2 GP6,RDH13 IS33684,MS17208 nsv912446 19 60207784 60315925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543812 S 6533 0 1 EPS8L1,GP6,PPP1R12C,RDH13 MS16153 nsv912448 19 60228407 60262594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530991 S 6533 0 1 GP6,RDH13 MS10311 dgv1131e1 19 60229274 60342499 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7671,esv1257 M 271 0 0 EPS8L1,GP6,PPP1R12C,RDH13,TNNT1 NA18620 esv34356 19 60229274 60342499 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986929,essv6979734,essv6990402 M 771 1 0 EPS8L1,GP6,PPP1R12C,RDH13,TNNT1 NA18620 nsv821557 19 60236017 60236811 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420071 S 1 0 1 GP6 NA10851 esv25428 19 60236037 60236811 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21400 S 451 0 14 GP6 NA11931,NA12006,NA12044,NA12749,NA12878,NA18502,NA18505,NA18508,NA18517,NA18858,NA18916,NA19099,NA19147,NA19225 nsv9770 19 60252536 60257158 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27091 S 31 0 1 Samples from several populations that are part of the HapMap project. RDH13 NA18504 esv9070 19 60267876 60268992 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31511 S 1 0 1 RDH13 SJK nsv817874 19 60270514 60306735 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417506 S 112 0 1 EPS8L1,PPP1R12C,RDH13 NA18968 nsv817875 19 60273323 60293927 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417281 S 112 0 1 EPS8L1 NA18608 dgv4015n71 19 60273323 60336137 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912452,nsv912450,nsv912449 M 6533 0 3 EPS8L1,PPP1R12C,TNNT1 IS39233,MS10311,SP54956 nsv912451 19 60273323 60372558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547044 S 6533 0 1 C19orf51,EPS8L1,PPP1R12C,TNNI3,TNNT1 MS17208 esv29147 19 60281425 60282070 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10689 S 451 0 1 EPS8L1 NA19108 nsv138118 19 60281802 60282023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156696 M 24 EPS8L1 esv23852 19 60291900 60292566 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20543 S 451 0 1 "" NA12287 nsv512597 19 60295696 60297549 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625208 S 1 0 1 PPP1R12C 1 esv27516 19 60299590 60301305 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19087 S 451 0 2 PPP1R12C NA11993,NA19240 esv1366716 19 60300140 60300266 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191342 S 2 0 1 PPP1R12C HuRef nsv138336 19 60300690 60300824 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156914 M 24 PPP1R12C esv1010486 19 60300707 60300770 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584200 S 3 0 1 PPP1R12C HuRef esv1104675 19 60300733 60300797 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856238 S 2 0 1 PPP1R12C HuRef esv2541049 19 60337407 60338239 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317513 S 1 1 0 TNNT1 NA18507 esv2308409 19 60350351 60350787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882388 S 1 0 1 TNNT1 NA18507 esv1688462 19 60350545 60350618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093306 S 2 0 1 TNNT1 HuRef esv1785452 19 60356977 60356977 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874860 S 2 1 0 TNNI3 HuRef esv2485681 19 60357719 60359391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277104 S 1 0 1 TNNI3 NA18507 nsv912453 19 60363819 60382210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510384 S 6533 0 1 C19orf51,SYT5 SP54956 nsv512598 19 60410505 60413607 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625209 S 1 0 1 PTPRH 1 esv1564792 19 60411544 60411837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124127 S 2 0 1 PTPRH HuRef nsv912454 19 60417222 60475364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530993 S 6533 0 1 HSPBP1,PPP6R1,TMEM86B MS10311 dgv4016n71 19 60417222 60617312 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912456,nsv912455 M 6533 0 2 BRSK1,COX6B2,FAM71E2,HSPBP1,IL11,PPP6R1,RPL28,SUV420H2,TMEM150B,TMEM190,TMEM238,TMEM86B,UBE2S IS39233,MS18537 nsv912457 19 60417222 60711409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543813 S 6533 0 1 BRSK1,COX6B2,FAM71E2,HSPBP1,IL11,ISOC2,NAT14,PPP6R1,RPL28,SHISA7,SSC5D,SUV420H2,TMEM150B,TMEM190,TMEM238,TMEM86B,UBE2S,ZNF628 MS16153 esv1600198 19 60421665 60421665 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671556 S 2 1 0 "" HuRef nsv912458 19 60455221 60515634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510385 S 6533 0 1 BRSK1,HSPBP1,PPP6R1 SP54956 nsv912459 19 60483192 60537198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586091 S 6533 0 1 BRSK1,HSPBP1,TMEM150B IS37646 nsv912460 19 60506693 60589139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590617 S 6533 0 1 BRSK1,COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM150B,TMEM190,TMEM238 IS38538 esv1551083 19 60511544 60511544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274034 S 2 1 0 BRSK1 HuRef nsv912461 19 60537198 60589139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596095 S 6533 0 1 COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM190,TMEM238 IS40396 nsv470162 19 60537198 60594069 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546601,nssv546602 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM190,TMEM238 HGDP00298,HGDP00302 dgv4017n71 19 60537198 60626996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912465,nsv912464,nsv912462 M 6533 0 3 COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM190,TMEM238,UBE2S IS32803,IS33684,SP54956 nsv912463 19 60537198 60696713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530994 S 6533 0 1 COX6B2,FAM71E2,IL11,ISOC2,NAT14,RPL28,SHISA7,SSC5D,SUV420H2,TMEM190,TMEM238,UBE2S,ZNF628 MS10311 esv26533 19 60542431 60543181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20612 S 451 0 1 SUV420H2 NA12239 nsv516199 19 60546125 60592911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668103,nssv682326,nssv684598,nssv666755,nssv677657,nssv697438,nssv669275,nssv694980,nssv682959 M 2026 0 9 COX6B2,FAM71E2,IL11,RPL28,SUV420H2,TMEM190,TMEM238 nsv912466 19 60558849 60567886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500594 S 6533 0 1 FAM71E2,IL11 SP50159 nsv912467 19 60562831 60570333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509386 S 6533 0 1 FAM71E2,IL11 SP54782 esv1487088 19 60563581 60563581 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085187 S 2 1 0 FAM71E2 HuRef dgv4018n71 19 60564403 60575691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912474,nsv912468 M 6533 0 3 FAM71E2,IL11 SP54657,SP54725,SP55021 dgv4019n71 19 60564403 60580410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912475,nsv912469,nsv912472 M 6533 0 3 FAM71E2,IL11,TMEM190 SP51109,SP54672,SP54684 dgv4020n71 19 60564403 60589139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912470,nsv912476 M 6533 0 3 FAM71E2,IL11,RPL28,TMEM190,TMEM238 SP54043,SP54593,SP54988 esv5326 19 60564716 60565075 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27767 S 1 0 1 Single Asian sample YH FAM71E2 YH esv1695561 19 60564800 60564977 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762575 S 2 0 1 FAM71E2 HuRef nsv912471 19 60565538 60570333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515578 S 6533 0 1 FAM71E2,IL11 SP56223 nsv912473 19 60566454 60837240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573986 S 6533 0 1 FIZ1,IL11,ISOC2,NAT14,RPL28,SBK2,SGK110,SHISA7,SSC5D,TMEM190,TMEM238,UBE2S,ZNF524,ZNF579,ZNF628,ZNF784,ZNF865 IS33504 esv1088106 19 60622008 60622008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340271 S 2 1 0 "" HuRef dgv4021n71 19 60628188 60664762 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912477,nsv912479 M 6533 0 2 ISOC2,SHISA7 SP51109,SP54988 nsv912478 19 60628188 60737334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510387 S 6533 0 1 ISOC2,NAT14,SBK2,SHISA7,SSC5D,ZNF628 SP54956 dgv600n67 19 60633631 60634981 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828640,nsv828641 M 31 0 2 SHISA7 AK4,NA18999 esv4343 19 60653206 60653793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26784 S 1 0 1 Single Asian sample YH "" YH esv2048146 19 60653248 60653717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736468 S 1 0 1 "" NA18507 dgv4022n71 19 60664762 60711409 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912480,nsv912484,nsv912481 M 6533 0 4 ISOC2,NAT14,SSC5D,ZNF628 IS30369,IS33248,IS39233,MS18276 dgv4023n71 19 60664762 60757975 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912485,nsv912490,nsv912482,nsv912491,nsv912492 M 6533 0 5 ISOC2,NAT14,SBK2,SGK110,SSC5D,ZNF628 IS33601,IS34235,IS38176,IS38538,IS39417 dgv4024n71 19 60667298 60695589 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912488,nsv912483 M 6533 0 2 NAT14,SSC5D,ZNF628 SP54725,SP54988 nsv458833 19 60669721 60724900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535716 S 1557 0 1 NAT14,SSC5D,ZNF628 NINDS_69 nsv912486 19 60669721 60837240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570858 S 6533 0 1 FIZ1,NAT14,SBK2,SGK110,SSC5D,ZNF524,ZNF579,ZNF628,ZNF784,ZNF865 IS32322 dgv4025n71 19 60669721 60906996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912487,nsv912494,nsv912498 M 6533 0 4 CCDC106,EPN1,FIZ1,NAT14,SBK2,SGK110,SSC5D,U2AF2,ZNF524,ZNF579,ZNF580,ZNF581,ZNF628,ZNF784,ZNF865 IS37646,IS39233,MS16153,MS17208 nsv2552 19 60670258 60701897 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5759 S 9 1 0 NAT14,SSC5D,ZNF628 NA19129 esv1001643 19 60675264 60675264 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569786 S 3 1 0 "" HuRef esv1088900 19 60675666 60675666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290280 S 2 1 0 "" HuRef nsv912489 19 60682787 60694141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508859 S 6533 0 1 NAT14,SSC5D,ZNF628 SP54593 esv1314346 19 60692055 60692055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601196 S 2 1 0 SSC5D HuRef nsv912493 19 60701693 60750549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538750 S 6533 0 1 SBK2,SGK110,SSC5D MS13770 esv24327 19 60708172 60709528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13032 S 451 0 1 SSC5D NA18511 esv2116865 19 60711635 60712024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792952 S 1 0 1 SSC5D NA18507 esv3217 19 60711811 60712238 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25658 S 1 0 1 Single Asian sample YH SSC5D YH nsv138517 19 60711818 60711965 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157095 M 24 SSC5D esv1093065 19 60711851 60711999 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665180 S 2 0 1 SSC5D HuRef dgv4026n71 19 60724900 60837240 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912497,nsv912495,nsv912496 M 6533 0 4 FIZ1,SBK2,SGK110,ZNF524,ZNF579,ZNF784,ZNF865 IS33684,IS35484,IS41410,MS18276 esv2310572 19 60730667 60731052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973249 S 1 0 1 "" NA18507 esv1724227 19 60730873 60730935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790796 S 2 0 1 "" HuRef esv4756 19 60733577 60734111 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27197 S 1 0 1 Single Asian sample YH SBK2 YH nsv138153 19 60733624 60733959 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156731 M 24 SBK2 esv997838 19 60733636 60733971 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577075 S 3 0 1 SBK2 HuRef esv1510388 19 60733648 60733984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082223 S 2 0 1 SBK2 HuRef esv7136 19 60733653 60733938 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29577 S 1 0 1 SBK2 SJK nsv828643 19 60751092 60846635 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435571 S 31 0 1 FIZ1,ZNF524,ZNF579,ZNF580,ZNF784,ZNF865 NA18942 nsv912499 19 60763105 60824299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510388 S 6533 0 1 FIZ1,ZNF524,ZNF579,ZNF784,ZNF865 SP54956 esv1730596 19 60766882 60767111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134193 S 2 0 1 "" HuRef nsv912500 19 60770534 60867327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533139 S 6533 0 1 CCDC106,FIZ1,U2AF2,ZNF524,ZNF579,ZNF580,ZNF581,ZNF784,ZNF865 MS11022 nsv912501 19 60785177 60906996 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532010,nssv1530995 M 6533 0 2 CCDC106,EPN1,FIZ1,U2AF2,ZNF524,ZNF580,ZNF581,ZNF784,ZNF865 MS10311,MS10698 nsv912502 19 60791696 60830387 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511097 S 6533 0 1 FIZ1,ZNF524,ZNF784,ZNF865 SP54988 nsv2553 19 60829367 60862026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5760 S 9 1 0 CCDC106,U2AF2,ZNF580,ZNF581 NA19129 nsv912503 19 60840889 60854588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511098 S 6533 0 1 CCDC106,ZNF580,ZNF581 SP54988 nsv912504 19 60840889 60862227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510389 S 6533 0 1 CCDC106,U2AF2,ZNF580,ZNF581 SP54956 nsv833882 19 60850445 61018376 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454869,nssv1454868 M 95 0 2 CCDC106,EPN1,NLRP11,NLRP9,RFPL4A,U2AF2 esv1128019 19 60873678 60873678 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883953 S 2 1 0 U2AF2 HuRef nsv828644 19 60875341 60876030 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422363 S 31 1 0 U2AF2 NA18969 nsv522559 19 60877062 60882627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705942 S 2026 0 1 EPN1,U2AF2 nsv2554 19 60896809 60930970 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3003 S 9 1 0 EPN1,NLRP9 NA18555 nsv510927 19 60910065 61123638 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624356 S 4 0 0 NLRP11,NLRP13,NLRP4,NLRP9,RFPL4A NA18994 nsv912505 19 60913396 61089008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559665 S 6533 1 0 NLRP11,NLRP4,NLRP9,RFPL4A MS24077 esv27102 19 60915487 60916545 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18450 S 451 1 0 NLRP9 NA12044 esv1008459 19 60915892 60916322 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563867 S 3 1 0 NLRP9 HuRef nsv912506 19 60918977 61017870 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551156 S 6533 1 0 NLRP11,NLRP9,RFPL4A MS18803 dgv1132e1 19 60927349 61018118 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3578,esv1131 M 271 0 0 NLRP11,NLRP9,RFPL4A NA18987 nsv9771 19 60937613 60940358 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27101 S 31 0 1 Samples from several populations that are part of the HapMap project. NLRP9 NA18504 nsv509753 19 60942129 61002190 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619755 S 4 1 0 NLRP11,RFPL4A NA10860 nsv2556 19 60948980 61003018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2240,nssv10199,nssv6803,nssv9857,nssv10200 M 9 4 0 NLRP11,RFPL4A NA12156,NA18507,NA18555,NA18956 nsv9772 19 60951331 60980499 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22241,nssv27491,nssv24919,nssv24997,nssv25532,nssv21845,nssv24676,nssv25820,nssv25541,nssv22549,nssv26050,nssv27078,nssv27678,nssv25401,nssv27880,nssv26823,nssv25866,nssv26369,nssv25145,nssv25470,nssv24053,nssv28604,nssv27644,nssv24719 M 31 0 24 Samples from several populations that are part of the HapMap project. RFPL4A NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12872,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv1133e1 19 60957621 60988304 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2749,essv3510,essv1687,essv600,essv8898,essv5948,essv3243 M 271 0 0 RFPL4A NA18577,NA18947,NA18965,NA18967,NA18992,NA18999,NA19171 essv183 19 60957621 61015021 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NLRP11,RFPL4A NA18994 nsv828645 19 60957937 60975015 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432570 S 31 0 1 RFPL4A AK20 nsv821063 19 60957937 60978231 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420072 S 1 1 0 RFPL4A NA10851 esv24770 19 60959297 60978150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12032 S 451 0 36 RFPL4A NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv1134e1 19 60959616 60974624 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5872,essv7498,essv1703 M 271 0 0 RFPL4A NA18561,NA18562,NA18968 nsv514903 19 60959840 60966244 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627196 S 1414 0 0 RFPL4A nsv442473 19 60959856 60969865 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RFPL4A nsv435699 19 60961580 60974440 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465699 S 2 0 1 RFPL4A NA15510 nsv482047 19 60962319 60966351 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558408 S 1 1 0 RFPL4A KB1 esv6309 19 60962435 60972440 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28750 S 1 0 1 RFPL4A SJK esv2432344 19 60963340 60974522 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210365 S 1 0 1 RFPL4A NA18507 esv3329 19 60964711 60974849 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25770 S 1 0 1 Single Asian sample YH RFPL4A YH nsv436257 19 60967583 60971309 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465700 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv514904 19 60972448 60981376 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627198 S 1414 0 0 "" nsv526248 19 60996419 60998214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702520 S 2026 0 1 NLRP11 nsv525923 19 60998008 60998151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702127 S 2026 0 1 NLRP11 esv2586154 19 61038205 61039578 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337129 S 1 0 1 NLRP11 NA18507 nsv912507 19 61040328 61279908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567827 S 6533 1 0 NLRP13,NLRP4,NLRP5,NLRP8 IS31154 nsv820912 19 61052818 61055583 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420073 S 1 0 1 NLRP4 NA10851 esv22163 19 61052832 61055166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20353 S 451 0 19 NLRP4 NA06985,NA07037,NA11931,NA11993,NA11995,NA12044,NA12156,NA12239,NA12414,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18858,NA18909,NA18916,NA19099 nsv138082 19 61053170 61053289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156660 M 24 NLRP4 esv1278224 19 61053426 61054707 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021396 S 2 0 1 NLRP4 HuRef nsv912508 19 61056102 61128652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566368 S 6533 1 0 NLRP13,NLRP4 IS30668 nsv912509 19 61059517 61071326 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551157 S 6533 1 0 NLRP4 MS18803 nsv507901 19 61070827 61076827 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617946,nssv619223,nssv620644 M 4 3 0 NLRP4 CHM,NA10860,NA15510 nsv912510 19 61153844 61263359 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566369 S 6533 1 0 NLRP5,NLRP8 IS30668 esv2526743 19 61196353 61197172 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178499 S 1 1 0 "" NA18507 nsv833883 19 61204413 61331901 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454870,nssv1454871 M 95 0 2 NLRP5,ZNF787 esv2646225 19 61209143 61211570 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308505 S 1 0 1 NLRP5 NA18507 nsv912511 19 61212834 61270050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505730 S 6533 1 0 NLRP5 SP53883 nsv2557 19 61224115 61239819 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7455 S 9 0 1 NLRP5 NA12156 dgv206n21 19 61229340 61398860 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528998,nsv523651 M 2026 0 2 GALP,NLRP5,ZNF444,ZNF787,ZSCAN5B esv2069811 19 61272580 61273015 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619087 S 1 0 1 "" NA18507 esv1760936 19 61272769 61272819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069026 S 2 0 1 "" HuRef esv2469180 19 61282867 61284291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257154 S 1 0 1 "" NA18507 esv2288482 19 61282951 61283898 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721664 S 1 0 1 "" NA18507 esv3539 19 61283079 61283884 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25980 S 1 0 1 Single Asian sample YH "" YH esv7495 19 61283088 61283812 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29936 S 1 0 1 "" SJK esv1555941 19 61283148 61283286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013954 S 2 0 1 "" HuRef dgv4027n71 19 61284098 61328571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912514,nsv912512 M 6533 0 2 ZNF787 SP54956,SP54988 nsv912513 19 61284098 61377275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586093 S 6533 0 1 ZNF444,ZNF787 IS37646 dgv207n21 19 61284098 61378765 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521744,nsv517365 M 2026 0 17 ZNF444,ZNF787 nsv912515 19 61290641 61315522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514736 S 6533 0 1 ZNF787 SP56047 nsv912516 19 61293110 61673194 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505731 S 6533 1 0 GALP,LOC386758,ZNF444,ZNF542,ZNF582,ZNF583,ZNF667,ZNF787,ZSCAN5A,ZSCAN5B SP53883 esv2064147 19 61301547 61302046 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502534 S 1 0 1 ZNF787 NA18507 esv4826 19 61301585 61302139 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27267 S 1 0 1 Single Asian sample YH ZNF787 YH esv991692 19 61301820 61301896 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570350 S 3 0 1 ZNF787 HuRef esv1322949 19 61301820 61301897 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235234 S 2 0 1 ZNF787 HuRef esv1002478 19 61309914 61309914 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576654 S 3 1 0 ZNF787 HuRef esv1007685 19 61309994 61309994 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584855 S 3 1 0 ZNF787 HuRef esv1027952 19 61309995 61309995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253489 S 2 1 0 ZNF787 HuRef nsv528361 19 61330657 61380382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704948 S 2026 0 1 GALP,ZNF444 esv27902 19 61378531 61380470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20520 S 451 0 2 GALP NA12287,NA12749 nsv828646 19 61393277 61428338 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432571 S 31 0 1 ZSCAN5A,ZSCAN5B AK20 nsv828647 19 61393300 61450213 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436985 S 31 0 1 ZSCAN5A,ZSCAN5B NA18592 esv5726 19 61396206 61447033 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28167 S 1 0 0 ZSCAN5A,ZSCAN5B SJK esv7336 19 61404022 61442076 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29777 S 1 0 1 ZSCAN5A SJK esv25999 19 61405191 61414764 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14147 S 451 0 2 "" NA18523,NA19114 esv2421407 19 61405760 61412086 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5062569,essv5157894,essv5053873,essv5074276,essv5107420,essv5137176,essv5063671,essv5107725,essv5064548,essv5041611,essv5081406,essv5114419,essv5100912,essv5036217,essv5015477,essv5088101,essv5027423,essv5129077,essv5141989,essv5066955,essv5054497,essv5053512,essv5041683,essv5046619,essv5043243,essv5156057,essv5156702,essv5088766,essv5120882,essv5035246,essv5014865,essv5052546,essv5120318,essv5079941,essv5075801,essv5133715,essv5096810,essv5012420,essv5155111,essv5025954,essv5017923,essv5152077,essv5098173 M 1184 0 43 "" NA18852,NA18854,NA18871,NA18872,NA19041,NA19114,NA19115,NA19119,NA19138,NA19140,NA19175,NA19181,NA19182,NA19183,NA19204,NA19314,NA19319,NA19371,NA19373,NA19374,NA19399,NA19429,NA19471,NA19473,NA19700,NA19702,NA19704,NA19705,NA20294,NA20300,NA20342,NA20343,NA20359,NA20360,NA21356,NA21359,NA21453,NA21578,NA21582,NA21599,NA21601,NA21716,NA21722 nsv442474 19 61405760 61414571 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv526325 19 61432998 61543847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702614 S 2026 0 1 "" nsv521243 19 61434487 61444704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694012,nssv688140 M 2026 0 2 "" nsv821531 19 61436993 61440226 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420074 S 1 0 1 "" NA10851 esv28725 19 61437252 61442513 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16056,esv14578 M 451 14 0 "" NA11894,NA11931,NA11995,NA12004,NA12006,NA12489,NA12878,NA18505,NA18523,NA18909,NA19114,NA19147,NA19225,NA19257 esv1631243 19 61438375 61438620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604327 S 2 0 1 "" HuRef esv1051137 19 61439697 61439837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737493 S 2 0 1 "" HuRef esv2651586 19 61440432 61441428 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284039 S 1 1 0 "" NA18507 esv1280436 19 61441166 61441166 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026047 S 2 1 0 "" HuRef nsv528817 19 61470853 61477220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705491 S 2026 0 1 "" nsv912517 19 61486457 61514278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514594 S 6533 0 1 "" SP56023 esv2549833 19 61509049 61510638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223273 S 1 0 1 "" NA18507 esv1725119 19 61509588 61510008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770678 S 2 0 1 "" HuRef esv21601 19 61541784 61543237 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20742,esv17420 M 451 14 2 "" NA06985,NA11931,NA11993,NA11995,NA12156,NA12239,NA12414,NA12749,NA18505,NA18517,NA18523,NA18861,NA18909,NA18916,NA19190,NA19257 nsv820866 19 61542270 61543237 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420075 S 1 0 1 "" NA10851 nsv138350 19 61542414 61542685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156928 M 24 "" nsv442475 19 61551396 61556644 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv828648 19 61553497 61556674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437143 S 31 0 1 "" NA18542 esv994926 19 61554824 61562742 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564630 S 3 0 1 "" HuRef esv274418 19 61557430 61557606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580933 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269283 19 61557436 61557652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505544,essv2508826,essv2500287,essv2498366,essv2500466,essv2503321,essv2512977,essv2504585,essv2507825,essv2500692,essv2507664,essv2512707,essv2509980,essv2496050,essv2499283,essv2512835,essv2511158,essv2493095,essv2500514,essv2512786 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA12154,NA12878,NA12891,NA18526,NA18537,NA18542,NA18547,NA18563,NA18564,NA18571,NA18576,NA18577,NA18593,NA18603,NA18605,NA18609,NA18944,NA18951,NA18956,NA18980 esv2638090 19 61557607 61562239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371235 S 1 0 1 "" NA18507 esv2009132 19 61558078 61561922 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736229 S 1 0 1 "" NA18507 nsv820371 19 61558171 61561655 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420076 S 1 0 1 "" NA10851 dgv601n67 19 61558171 61566181 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828650,nsv828649 M 31 2 0 "" AK4,NA18949 nsv819437 19 61558197 61566221 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419852 S 2 1 0 "" AK1 esv24800 19 61558276 61561655 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19116 S 451 33 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv2541604 19 61559226 61561740 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385731 S 1 0 1 "" NA18507 esv1044797 19 61647905 61647905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862468 S 2 1 0 ZNF667 HuRef esv268963 19 61657829 61658174 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557818,essv2571774,essv2546234,essv2525933,essv2556470,essv2568078,essv2545470,essv2523343,essv2531928,essv2570444,essv2521563,essv2576703,essv2550398,essv2535484,essv2520404,essv2547260,essv2529268,essv2558326,essv2565366,essv2576321,essv2563950,essv2530763,essv2546699,essv2532439,essv2578834,essv2540357,essv2549535,essv2559890,essv2535718,essv2541928,essv2562320,essv2533857,essv2555507,essv2529549,essv2526353,essv2560843,essv2572676,essv2549907,essv2571467,essv2574170,essv2536084,essv2532964,essv2524932,essv2563197 M 157 44 0 Samples from several populations that are part of the HapMap project. ZNF667 NA06986,NA07051,NA07357,NA10847,NA10851,NA11840,NA11881,NA11918,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12144,NA12154,NA12234,NA12249,NA12716,NA12717,NA12749,NA12750,NA12812,NA12814,NA12828,NA12873,NA12892,NA18505,NA18510,NA18552,NA18564,NA18570,NA18608,NA18856,NA18909,NA18916,NA18945,NA19093,NA19114,NA19137,NA19143,NA19225,NA19238,NA19240 esv273931 19 61657836 61657980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580091,essv2580340,essv2580548,essv2579377,essv2579470 M 7 5 0 Samples from several populations that are part of the HapMap project. ZNF667 NA12878,NA12891,NA19238,NA19239,NA19240 nsv912518 19 61687549 61801633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505732 S 6533 1 0 LOC100128252,ZFP28,ZNF470,ZNF471,ZNF71 SP53883 nsv912519 19 61712566 61757001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514737 S 6533 0 1 ZFP28,ZNF471 SP56047 esv272537 19 61715360 61715688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581755,essv2583041,essv2584850,essv2583317 M 7 4 0 Samples from several populations that are part of the HapMap project. ZNF471 NA12878,NA12892,NA19239,NA19240 esv269143 19 61715361 61715687 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540957,essv2521198,essv2525925,essv2570895,essv2576636,essv2535046,essv2551998,essv2520462,essv2529215,essv2558240,essv2564537,essv2578109,essv2576214,essv2530533,essv2537598,essv2547078,essv2557430,essv2557192,essv2551773,essv2537147,essv2569765,essv2540325,essv2566321,essv2541971,essv2551112,essv2539460,essv2572948,essv2529504,essv2526536,essv2574593,essv2545066,essv2545732,essv2574491,essv2536144,essv2554436,essv2548018 M 157 36 0 Samples from several populations that are part of the HapMap project. ZNF471 NA06986,NA07346,NA07347,NA11831,NA11894,NA11918,NA11993,NA12154,NA12249,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12814,NA12873,NA12878,NA12892,NA18499,NA18501,NA18504,NA18517,NA18520,NA18552,NA18572,NA18856,NA18858,NA18912,NA18942,NA19093,NA19114,NA19138,NA19172,NA19239,NA19240 nsv524734 19 61753885 61755452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700725 S 2026 0 1 ZFP28 nsv828651 19 61759134 61759878 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426287 S 31 1 0 ZFP28 AK4 esv8168 19 61803376 61803686 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30609 S 1 0 1 ZNF71 SJK nsv912520 19 61818540 61852327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530996 S 6533 0 1 LOC147670,ZNF71 MS10311 nsv912521 19 61826103 61962190 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505733 S 6533 1 0 LOC147670,ZNF71,ZNF835 SP53883 nsv138064 19 61855309 61861853 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156642 M 24 LOC147670 esv22638 19 61872686 61873271 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19104 S 451 0 4 ZNF835 NA12044,NA18517,NA19099,NA19108 nsv517449 19 61890337 61906985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678073,nssv662046,nssv685711,nssv684692,nssv675023,nssv652048,nssv664852,nssv658254,nssv702088,nssv659197,nssv679081,nssv663243,nssv684164 M 2026 0 13 "" nsv137982 19 61891568 61891625 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156560 M 24 "" esv21969 19 61894710 61903742 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11619 S 451 0 4 "" NA18508,NA18523,NA18907,NA19147 nsv458835 19 61894736 61902598 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535717 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00151 esv2421722 19 61894736 61903323 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138038,essv5105393,essv5142534,essv5160088,essv5047223,essv5124857,essv5104872,essv5052797,essv5030197,essv5015213,essv5057033,essv5057918,essv5054313,essv5108787,essv5019697,essv5020801,essv5091111,essv5112699,essv5084935,essv5036443,essv5064657,essv5089653,essv5065908,essv5097104,essv5095320,essv5121869,essv5045248,essv5099203,essv5010948,essv5103369,essv5010616,essv5102648,essv5080047,essv5088598,essv5005900,essv5074838,essv5028214,essv5128155,essv5056825,essv5068403,essv5155219,essv5050448,essv5096318,essv5031295,essv5134499,essv5118475,essv5005767,essv5117887,essv5010135,essv5129382,essv5056838,essv5040339 M 1184 0 52 "" NA18485,NA18487,NA18504,NA18506,NA18508,NA18934,NA19044,NA19102,NA19117,NA19121,NA19138,NA19143,NA19147,NA19159,NA19161,NA19176,NA19189,NA19191,NA19214,NA19310,NA19328,NA19347,NA19352,NA19375,NA19376,NA19382,NA19391,NA19396,NA19397,NA19436,NA19468,NA19471,NA19625,NA19701,NA19704,NA19705,NA19711,NA19713,NA19835,NA19914,NA19917,NA19918,NA19985,NA20276,NA20277,NA20347,NA20349,NA21360,NA21476,NA21689,NA21719,NA21723 nsv442476 19 61896070 61903319 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514905 19 61896192 61903320 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628339 S 1414 0 1 "" esv1774230 19 61900205 61900205 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736091 S 2 1 0 "" HuRef nsv833884 19 61907423 62089065 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454872 S 95 0 1 MIMT1,PEG3,PEG3-AS1,ZIM2 nsv509754 19 61907544 61964684 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623765 S 4 1 0 "" NA18994 esv1476989 19 61949025 61949025 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912549 S 2 1 0 "" HuRef esv2123461 19 61975637 61976163 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661291 S 1 0 1 "" NA18507 esv1267163 19 61975839 61976036 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981432 S 2 0 1 "" HuRef nsv138047 19 61975840 61976036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156625 M 24 "" nsv912522 19 62084041 62169294 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505734 S 6533 1 0 "" SP53883 nsv138335 19 62112288 62112288 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv156913 M 24 "" nsv509755 19 62114247 62171736 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623766 S 4 1 0 "" NA18994 esv268868 19 62117305 62117644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516939,essv2518767,essv2514778,essv2515365,essv2518466,essv2515038,essv2516572,essv2515781,essv2517973,essv2517887,essv2513978,essv2518285,essv2513572 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12878,NA19143,NA19240 esv273515 19 62117305 62117644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581361,essv2581217 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1136093 19 62117344 62117344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658787 S 2 1 0 "" HuRef nsv2558 19 62142215 62158577 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1466 S 9 1 0 "" NA19240 nsv138520 19 62150211 62150266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv157098 M 24 "" nsv442477 19 62165323 62171290 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv512599 19 62166673 62167858 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625211 S 1 0 1 "" 1 esv3859 19 62166687 62167506 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26300 S 1 0 1 Single Asian sample YH "" YH esv6731 19 62166719 62167420 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29172 S 1 0 1 "" SJK nsv912523 19 62180880 62357157 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505735 S 6533 1 0 DUXA,USP29,ZIM3 SP53883 nsv509756 19 62234401 62289840 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623767 S 4 1 0 "" NA18994 nsv528378 19 62338030 62341712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704966 S 2026 0 1 ZIM3 nsv817876 19 62338030 62357562 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418120 S 112 1 0 DUXA,ZIM3 NA11882 esv2280796 19 62340936 62341357 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671425 S 1 0 1 ZIM3 NA18507 nsv511616 19 62371427 62375111 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626247 S 1 1 0 "" 1 esv25702 19 62371884 62373039 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13319 S 451 2 0 "" NA18858,NA19147 esv29805 19 62375135 62376372 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16832 S 451 1 0 "" NA12044 esv1942885 19 62444611 62445042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968792 S 1 0 1 ZNF805 NA18507 esv22387 19 62447332 62448314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16973 S 451 0 1 ZNF805 NA18858 esv24776 19 62469653 62471324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13424 S 451 0 1 "" NA18505 esv1369020 19 62522590 62522590 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208850 S 2 1 0 "" HuRef nsv819727 19 62527017 62528338 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419236 S 2 1 0 ZNF543 AK1 dgv602n67 19 62527459 62528308 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828654,nsv828652 M 31 3 0 ZNF543 AK4,NA18552,NA18570 nsv821238 19 62527459 62528327 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420077 S 1 0 1 ZNF543 NA10851 esv25537 19 62527588 62528327 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18573 S 451 18 0 ZNF543 NA11995,NA12044,NA12239,NA12287,NA12414,NA12749,NA12828,NA15510,NA18505,NA18511,NA18858,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 esv2531361 19 62530375 62531185 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242682 S 1 1 0 ZNF543 NA18507 nsv819877 19 62530958 62531291 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418748 S 2 0 1 ZNF543 AK1 nsv817877 19 62547742 62552897 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418121 S 112 1 0 "" NA11882 nsv912524 19 62677701 62695392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511100 S 6533 0 1 ZNF419,ZNF772 SP54988 nsv912525 19 62677701 62750058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530997 S 6533 0 1 ZNF419,ZNF549,ZNF772,ZNF773 MS10311 esv24439 19 62680372 62695532 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21160 S 451 1 0 ZNF419,ZNF772 NA11995 nsv828655 19 62680521 62694780 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423048 S 31 1 0 ZNF419,ZNF772 NA18552 nsv9773 19 62680661 62689885 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24944 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF772 NA18552 dgv1135e1 19 62684998 62694776 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5969,esv1120 M 271 0 0 ZNF419 NA18552 nsv522762 19 62695392 62727457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698401 S 2026 0 1 ZNF419,ZNF773 nsv525323 19 62699597 62703233 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701433 S 2026 0 1 ZNF773 esv2171200 19 62702606 62702974 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833568 S 1 0 1 "" NA18507 esv1737306 19 62702752 62702818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837391 S 2 0 1 "" HuRef esv2021342 19 62726234 62726827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949732 S 1 0 1 "" NA18507 esv3925 19 62726353 62726693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26366 S 1 0 1 Single Asian sample YH "" YH esv7192 19 62726397 62726633 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29633 S 1 0 1 "" SJK esv28244 19 62726477 62727008 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9979 S 451 0 1 "" NA18511 nsv526203 19 62727457 62727577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702466 S 2026 0 1 "" dgv4028n71 19 62809211 62875288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912526,nsv912527 M 6533 0 2 ZNF134,ZNF211,ZNF530,ZSCAN4 IS38123,MS23077 nsv912528 19 62834703 63093129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579197 S 6533 1 0 FKBP1AP1,LOC100293516,ZNF154,ZNF211,ZNF551,ZNF552,ZNF586,ZNF587,ZNF671,ZNF776,ZNF814,ZSCAN4 IS35028 nsv516393 19 62940924 62941116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687751,nssv672075,nssv668010 M 2026 0 3 "" nsv912529 19 62947836 63077193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554717 S 6533 0 1 FKBP1AP1,LOC100293516,ZNF552,ZNF586,ZNF587,ZNF776,ZNF814 MS20925 nsv520155 19 62973186 63022824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661276,nssv676862,nssv695605 M 2026 0 3 ZNF552,ZNF586 nsv912530 19 62973186 63033655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505713 S 6533 1 0 FKBP1AP1,LOC100293516,ZNF552,ZNF586 SP53863 dgv4029n71 19 62973186 63066765 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912532,nsv912531 M 6533 4 0 FKBP1AP1,LOC100293516,ZNF552,ZNF586,ZNF587 SP50857,SP53196,SP53894,SP55966 esv7167 19 62973237 62989868 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29608 S 1 0 1 ZNF586 SJK nsv7311 19 62998882 63084614 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2241,nssv6804 M 9 0 0 FKBP1AP1,LOC100293516,ZNF552,ZNF587,ZNF814 NA12156,NA18555 esv2302097 19 63077492 63077888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868631 S 1 0 1 ZNF814 NA18507 esv1001775 19 63077518 63077682 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585994 S 3 0 1 ZNF814 HuRef nsv525611 19 63160968 63162333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701756 S 2026 0 1 C19orf18 nsv833885 19 63182936 63368540 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454875,nssv1454874,nssv1454873,nssv1454877,nssv1454878,nssv1454881,nssv1454876,nssv1454880,nssv1454879 M 95 0 9 LOC100128398,ZNF135,ZNF329,ZNF606,ZSCAN1,ZSCAN18 nsv516650 19 63183439 63186871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669887,nssv657789 M 2026 0 2 ZNF606 nsv912533 19 63202744 63296809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592469 S 6533 0 1 LOC100128398,ZNF135,ZNF606,ZSCAN1,ZSCAN18 IS39233 nsv912534 19 63228678 63268170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510391 S 6533 0 1 ZNF135,ZSCAN1 SP54956 esv21803 19 63229828 63234858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13783 S 451 0 1 "" NA19108 esv989057 19 63259754 63259877 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575223 S 3 0 1 "" HuRef esv1688838 19 63259803 63259927 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251196 S 2 0 1 "" HuRef nsv458836 19 63261443 63308486 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535718 S 1557 1 0 ZNF135,ZSCAN18 1780862014_A nsv828656 19 63271849 63272292 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431021 S 31 1 0 ZNF135 AK16 nsv912535 19 63272206 63367728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586094 S 6533 0 1 ZNF135,ZNF329,ZSCAN18 IS37646 nsv912536 19 63284600 63428437 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561840 S 6533 1 0 ZNF274,ZNF329,ZSCAN18 MS25250 esv2189581 19 63309414 63310011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954679 S 1 0 1 ZSCAN18 NA18507 esv6433 19 63309496 63309940 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28874 S 1 0 1 ZSCAN18 SJK esv1409673 19 63309581 63309912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045630 S 2 0 1 ZSCAN18 HuRef nsv833886 19 63312933 63536034 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454882 S 95 1 0 ZNF274,ZNF329,ZNF544,ZNF8,ZSCAN18,ZSCAN22 nsv912537 19 63340171 63540768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570555 S 6533 0 1 ZNF274,ZNF329,ZNF544,ZNF8,ZSCAN22 IS32166 esv989961 19 63444337 63444337 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581039 S 3 1 0 ZNF544 HuRef esv1513336 19 63444356 63444356 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278806 S 2 1 0 ZNF544 HuRef esv2087272 19 63461467 63461872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4991557 S 1 0 1 ZNF544 NA18507 esv1001037 19 63461646 63461750 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569924 S 3 0 1 ZNF544 HuRef esv1435930 19 63461664 63461769 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637929 S 2 0 1 ZNF544 HuRef nsv833887 19 63465828 63637003 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454883 S 95 0 1 A1BG,A1BG-AS1,LOC646862,MIR4754,RPS5,ZNF132,ZNF497,ZNF544,ZNF584,ZNF8,ZNF837,ZSCAN22 esv5914 19 63471554 63471641 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28355 S 1 1 0 "" SJK nsv515731 19 63523631 63779291 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691832,nssv662644,nssv703816,nssv665392,nssv692969,nssv679778,nssv655363,nssv674681,nssv695240,nssv673563,nssv679620,nssv676687,nssv684829,nssv689458,nssv697402,nssv674776,nssv677947,nssv673995,nssv684359,nssv701043,nssv665207,nssv665586,nssv693569,nssv670715,nssv664611 M 2026 1 24 A1BG,A1BG-AS1,CHMP2A,LOC100131691,LOC646862,MGC2752,MIR4754,MZF1,RPS5,SLC27A5,TRIM28,UBE2M,ZBTB45,ZNF132,ZNF324,ZNF324B,ZNF446,ZNF497,ZNF584,ZNF837,ZSCAN22 esv1426100 19 63529862 63529862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879994 S 2 1 0 "" HuRef dgv4030n71 19 63540880 63620598 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912545,nsv912542,nsv912541,nsv912539,nsv912538,nsv912540 M 6533 0 8 A1BG,A1BG-AS1,LOC646862,MIR4754,RPS5,ZNF497,ZNF584,ZNF837,ZSCAN22 IS33504,IS33684,IS35484,IS37646,IS41410,MS17208,SP54956,SP55021 nsv833888 19 63543177 63680223 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454886,nssv1454884,nssv1454885 M 95 0 3 A1BG,A1BG-AS1,LOC646862,MIR4754,RPS5,ZNF132,ZNF324,ZNF324B,ZNF446,ZNF497,ZNF584,ZNF837,ZSCAN22 dgv4031n71 19 63547672 63569151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912543,nsv912544 M 6533 0 2 A1BG,A1BG-AS1,ZNF497 SP54725,SP54988 nsv817878 19 63556291 63590994 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417282 S 112 0 1 A1BG,A1BG-AS1,MIR4754,RPS5,ZNF497,ZNF837 NA18608 essv17855 19 63590775 63594002 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. RPS5 NA10857 dgv1136e1 19 63590775 63596527 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23096,esv1061 M 271 0 0 RPS5 NA12043 esv2546940 19 63613286 63614782 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177002 S 1 0 1 ZNF584 NA18507 esv1059195 19 63613719 63613961 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813881 S 2 0 1 ZNF584 HuRef esv999478 19 63636186 63636186 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576301 S 3 1 0 ZNF132 HuRef nsv828657 19 63686663 63788919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437144 S 31 1 0 CHMP2A,LOC100131691,MGC2752,MZF1,SLC27A5,TRIM28,UBE2M,ZBTB45 NA18542 esv1392974 19 63691553 63691553 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149911 S 2 1 0 "" HuRef nsv912546 19 63714165 63776118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510393 S 6533 0 1 CHMP2A,LOC100131691,MZF1,SLC27A5,TRIM28,UBE2M,ZBTB45 SP54956 nsv828658 19 63727937 63730817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422374 S 31 0 1 "" NA18969 esv25011 19 63741946 63746981 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16470 S 451 2 1 "" NA06985,NA18858,NA18909 esv1354085 19 63742519 63742594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065875 S 2 0 1 "" HuRef esv1282013 19 63742632 63742710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990365 S 2 0 1 "" HuRef esv1496820 19 63744672 63744672 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189726 S 2 1 0 "" HuRef dgv4032n71 19 63750011 63769885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912547,nsv912548 M 6533 0 2 CHMP2A,LOC100131691,MZF1,TRIM28,UBE2M SP54672,SP55021 nsv820066 19 63755066 63755701 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419035 S 2 0 1 CHMP2A AK1 esv4470 19 63788152 63788592 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26911 S 1 0 1 Single Asian sample YH "" YH esv2600214 19 63788278 63788432 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376087 S 1 0 1 "" NA18507 esv28703 19 63798094 63806593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20865,esv12037 M 451 0 2 "" NA19099,NA19147 dgv4033n71 2 1 202106 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873519,nsv873520 M 6533 2 0 FAM110C IS38126,MS13048 esv2751887 2 2994 241673 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989369,essv6989800,essv6983491,essv6983492 M 771 0 1 FAM110C,SH3YL1 BEC_661 esv29328 2 22585 24787 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11118 S 451 0 1 "" NA11894 nsv873521 2 26787 108913 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505679 S 6533 1 0 FAM110C SP53827 dgv4034n71 2 58851 196704 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873524,nsv873526,nsv873523,nsv873522 M 6533 6 0 "" IS33526,IS33970,IS40333,MS25627,SP52955,SP53616 nsv873525 2 58851 216933 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593685 S 6533 1 0 SH3YL1 IS39490 nsv519763 2 75793 252553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685875,nssv658365,nssv658330 M 2026 0 3 SH3YL1 nsv833148 2 79317 234096 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441757 S 95 0 1 SH3YL1 nsv213707 2 85577 90694 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232285 M 24 "" nsv873527 2 100819 189678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512385 S 6533 0 1 "" SP55469 nsv873528 2 111222 187455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525815 S 6533 1 0 "" SP56830 nsv873529 2 111222 285255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590037 S 6533 1 0 ACP1,FAM150B,SH3YL1 IS38446 nsv468872 2 129346 201069 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543931 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01236 esv1571430 2 148188 148188 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044047 S 2 1 0 "" HuRef nsv833159 2 148491 317294 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441758,nssv1441759 M 95 0 2 ACP1,FAM150B,SH3YL1 essv2780 2 157949 334228 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACP1,FAM150B,SH3YL1 NA18987 dgv1137e1 2 157949 915588 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5376,essv6197,esv573 M 271 0 0 ACP1,FAM150B,LOC339822,SH3YL1,TMEM18 NA18563 nsv873530 2 165407 333588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589660 S 6533 1 0 ACP1,FAM150B,SH3YL1 IS38394 nsv2561 2 166235 217293 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1469,nssv5766,nssv3005,nssv4379 M 9 4 0 SH3YL1 NA12878,NA18555,NA19129,NA19240 nsv508735 2 183497 223292 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623854,nssv619886,nssv621156 M 4 3 0 SH3YL1 NA10860,NA15510,NA18994 esv27207 2 187458 188538 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13355 S 451 2 0 "" NA19114,NA19190 esv1432383 2 187567 188191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038583 S 2 0 1 "" HuRef esv998318 2 187583 188538 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586612 S 3 0 1 "" HuRef esv1005837 2 196762 198591 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565301 S 3 1 0 "" HuRef esv28923 2 197761 205529 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10254 S 451 0 1 "" NA07045 esv1073071 2 204552 204552 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951511 S 2 1 0 "" HuRef esv994728 2 225376 225495 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583285 S 3 0 1 SH3YL1 HuRef esv1237216 2 225556 225660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183643 S 2 0 1 SH3YL1 HuRef esv1550511 2 225808 225975 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976720 S 2 0 1 SH3YL1 HuRef nsv873531 2 232800 333588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561988 S 6533 1 0 ACP1,FAM150B,SH3YL1 MS25306 essv3569 2 240958 295803 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACP1,FAM150B,SH3YL1 NA18987 nsv833170 2 264456 461195 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441760 S 95 0 1 ACP1,FAM150B esv28356 2 283607 284402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16860 S 451 0 1 "" NA12489 esv1047238 2 284100 284196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301455 S 2 0 1 "" HuRef esv34786 2 286852 836164 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979493,essv6979494,essv6979496,essv6979495 M 771 1 0 LOC339822,TMEM18 NA18563 nsv821521 2 296102 299357 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421157 S 1 0 1 "" NA10851 nsv9247 2 296213 299189 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22758,nssv27613,nssv23681,nssv25702,nssv28402,nssv26177,nssv23377,nssv28294,nssv24567,nssv27941,nssv24587,nssv28489,nssv26705,nssv25455,nssv27517,nssv25964 M 31 3 13 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12872,NA18502,NA18517,NA18564,NA18572,NA18853,NA18972,NA18975,NA19007,NA19173,NA19221 esv28435 2 296307 299117 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21018 S 451 3 18 "" NA06985,NA07045,NA11993,NA11995,NA12004,NA12006,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA18502,NA18511,NA18517,NA18907,NA18909,NA18916,NA19114,NA19190,NA19225 esv1011262 2 296679 297655 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580161 S 3 0 1 "" HuRef esv1123032 2 296692 296828 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255368 S 2 0 1 "" HuRef esv1126886 2 296837 297678 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140805 S 2 0 1 "" HuRef esv2472514 2 297529 299797 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173288 S 1 0 1 "" NA18507 dgv4035n71 2 299480 772581 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873536,nsv873532 M 6533 2 0 LOC339822,TMEM18 IS38446,SP53550 dgv4036n71 2 299480 950849 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873538,nsv873534,nsv873533 M 6533 3 0 LOC339822,SNTG2,TMEM18 IS34346,SP56862,SP57113 nsv9258 2 304425 846963 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24885,nssv27288,nssv23376,nssv26556,nssv27627,nssv26730,nssv26571,nssv27735,nssv22763,nssv23076,nssv26393,nssv26383,nssv24902,nssv28344,nssv23687,nssv26189,nssv26845,nssv23686,nssv28442,nssv26720,nssv27158,nssv24879,nssv27400,nssv27721 M 31 14 9 Samples from several populations that are part of the HapMap project. LOC339822,TMEM18 NA07029,NA07048,NA10839,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132 nsv833181 2 317295 495695 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441761 S 95 1 0 "" nsv873535 2 320659 376021 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502880 S 6533 1 0 "" SP51439 nsv469802 2 333653 497241 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649823 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv508071 2 333877 339877 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622330,nssv621513,nssv618529,nssv624262 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv873537 2 338470 432575 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577128 S 6533 1 0 "" IS34361 nsv873539 2 356410 467364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546474 S 6533 0 1 "" MS17208 esv26717 2 378690 380417 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14553 S 451 0 1 "" NA18909 dgv4037n71 2 381781 512921 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873541,nsv873540 M 6533 2 0 "" IS33864,IS40639 nsv511755 2 388369 391145 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626402 S 1 0 1 "" 1 esv24337 2 388384 391204 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15351 S 451 7 4 "" NA12004,NA12239,NA12414,NA12489,NA12749,NA18508,NA18517,NA18523,NA19108,NA19147,NA19257 nsv821031 2 388384 391251 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1421168 S 1 0 1 "" NA10851 esv1939858 2 388451 388757 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712778 S 1 0 1 "" NA18507 esv1005138 2 388574 391114 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586351 S 3 1 0 "" HuRef nsv214898 2 388729 390495 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233476 M 24 "" esv989638 2 388866 389255 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572996 S 3 0 1 "" HuRef esv1005069 2 389613 389690 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567358 S 3 0 1 "" HuRef esv1202925 2 390204 390722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180341 S 2 0 1 "" HuRef nsv827886 2 399535 435567 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436400 S 31 1 0 "" NA18542 nsv827897 2 409898 428566 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426447 S 31 1 0 "" AK6 esv26030 2 410249 411144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10342 S 451 0 1 "" NA12489 esv1621370 2 410859 411021 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972041 S 2 0 1 "" HuRef nsv873542 2 410887 502170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585796 S 6533 0 1 "" IS37646 esv27611 2 416434 417619 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19240 S 451 0 10 "" NA11993,NA11995,NA12156,NA12287,NA12749,NA12878,NA18861,NA18907,NA18909,NA19147 esv1006377 2 416534 417579 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586102 S 3 0 1 "" HuRef esv1009622 2 417396 417495 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579375 S 3 0 1 "" HuRef esv1138392 2 417503 417503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196274 S 2 1 0 "" HuRef esv21582 2 432008 433033 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18069 S 451 0 1 "" NA12489 nsv873543 2 450928 845107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502881 S 6533 1 0 LOC339822,TMEM18 SP51439 esv2422306 2 454320 1051765 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161424 S 181 1 0 LOC339822,SNTG2,TMEM18 ND03527 nsv521394 2 459494 460602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698004 S 2026 0 1 "" esv2518004 2 477513 479079 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244327 S 1 0 1 "" NA18507 esv2453251 2 484582 486172 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299999 S 1 0 1 "" NA18507 nsv820799 2 484955 485861 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419882 S 1 0 1 "" NA10851 esv29325 2 485037 485861 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13468 S 451 0 13 "" NA06985,NA07037,NA07045,NA11993,NA12004,NA12239,NA12749,NA12878,NA15510,NA18508,NA18861,NA19114,NA19240 esv2108558 2 485051 485863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694181 S 1 0 1 "" NA18507 esv991252 2 485181 485270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585759 S 3 0 1 "" HuRef esv1346465 2 485188 485278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122950 S 2 0 1 "" HuRef esv7770 2 485240 485793 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30211 S 1 0 1 "" SJK nsv873544 2 489823 730082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577129 S 6533 1 0 TMEM18 IS34361 nsv873545 2 506696 648595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521783 S 6533 1 0 "" SP52574 nsv873546 2 525533 586532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543370 S 6533 0 1 "" MS16153 esv3745 2 537216 537713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26186 S 1 0 1 Single Asian sample YH "" YH nsv213219 2 537220 537333 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231797 M 24 "" esv2422321 2 544629 698009 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161273 S 181 1 0 TMEM18 ND03355 nsv833192 2 554442 696156 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441762 S 95 1 0 TMEM18 esv269829 2 557351 557675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513718 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 dgv4038n71 2 568204 638899 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873547,nsv873549,nsv873548 M 6533 0 3 "" IS33504,MS10769,MS18276 nsv873550 2 592475 671739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570678 S 6533 0 1 TMEM18 IS32322 esv2483737 2 594240 595285 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366102 S 1 1 0 "" NA18507 nsv468883 2 597107 1110566 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543937 S 1557 1 0 LOC339822,SNTG2,TMEM18 NINDS_109 nsv511170 2 620995 621759 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626221 S 1 1 0 "" 1 esv269093 2 642640 642887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565652,essv2536465,essv2571039,essv2545255,essv2521501,essv2520571,essv2565271,essv2576270,essv2562596,essv2549153,essv2559867,essv2578178,essv2526571,essv2560588,essv2572826,essv2568668,essv2532980,essv2557939 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11829,NA11920,NA11993,NA12003,NA12144,NA12716,NA12812,NA12814,NA18507,NA18564,NA18570,NA18940,NA19114,NA19116,NA19143,NA19147 esv1445228 2 642657 642657 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955552 S 2 1 0 "" HuRef esv1452860 2 655690 655690 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4155054 S 2 1 0 "" HuRef nsv468894 2 686317 904564 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543945 S 1557 1 0 LOC339822 NINDS_139 esv1368176 2 705460 705460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043479 S 2 1 0 "" HuRef nsv508746 2 714907 731571 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619887 S 4 1 0 "" NA10860 esv2295974 2 715401 715802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503367 S 1 0 1 "" NA18507 esv1538453 2 715555 715639 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984765 S 2 0 1 "" HuRef nsv2562 2 717756 720052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4380 S 9 1 0 "" NA12878 esv29578 2 722114 723131 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10063 S 451 11 1 "" NA07037,NA07045,NA11993,NA12156,NA15510,NA18858,NA18861,NA18907,NA18916,NA19147,NA19190,NA19257 esv1488746 2 722221 722221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995015 S 2 1 0 "" HuRef esv28844 2 729939 730899 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13625 S 451 22 0 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12006,NA12156,NA12414,NA12749,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18909,NA19099,NA19114,NA19190,NA19225,NA19240,NA19257 dgv31n47 2 729987 730914 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499443,nsv499363 M 9 2 0 "" esv999406 2 729994 730814 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586127 S 3 0 1 "" HuRef esv8955 2 730299 730491 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31396 S 1 0 1 "" SJK esv988681 2 730776 730838 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577806 S 3 0 1 "" HuRef esv1163754 2 730782 730845 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752930 S 2 0 1 "" HuRef esv1001949 2 730831 730893 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565980 S 3 0 1 "" HuRef dgv4039n71 2 733205 864930 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873551,nsv873552 M 6533 2 0 LOC339822 IS34361,SP53550 nsv469596 2 733711 915569 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649711 M 265 0 0 Samples from several populations that are part of the HapMap project. LOC339822 nsv2563 2 752519 757928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4381 S 9 1 0 "" NA12878 nsv519071 2 763278 766287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696543 S 2026 0 1 "" nsv2564 2 781117 812995 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1470,nssv5767,nssv4382 M 9 3 0 LOC339822 NA12878,NA19129,NA19240 nsv508757 2 789187 799538 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623855,nssv621157,nssv619888 M 4 3 0 LOC339822 NA10860,NA15510,NA18994 nsv873553 2 795871 854361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529784 S 6533 0 1 LOC339822 MS10123 esv988638 2 799191 800292 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565139 S 3 1 0 LOC339822 HuRef esv991195 2 806158 806223 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577989 S 3 0 1 LOC339822 HuRef esv1729356 2 806264 806330 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340309 S 2 0 1 LOC339822 HuRef nsv523188 2 807217 841144 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698903 S 2026 1 0 LOC339822 nsv873554 2 829556 953326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538573 S 6533 0 1 LOC339822,SNTG2 MS13770 esv25313 2 832222 836862 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11165,esv16241 M 451 2 0 LOC339822 NA12239,NA19108 esv1103686 2 832494 832584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153289 S 2 0 1 LOC339822 HuRef esv9215 2 835559 835816 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31656 S 1 0 1 LOC339822 SJK nsv873555 2 835642 870072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546475 S 6533 0 1 LOC339822 MS17208 nsv873556 2 835642 913803 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573671 S 6533 1 0 LOC339822 IS33487 esv22241 2 846481 847607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16144,esv12018 M 451 0 2 LOC339822 NA12749,NA19190 nsv512762 2 846792 847124 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625392 S 1 1 0 LOC339822 1 esv1527119 2 846801 846801 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164932 S 2 1 0 LOC339822 HuRef esv4103 2 849620 850030 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26544 S 1 0 1 Single Asian sample YH LOC339822 YH esv2624855 2 853591 855465 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202224 S 1 0 1 LOC339822 NA18507 esv23989 2 853997 855007 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20167 S 451 0 1 LOC339822 NA18916 nsv468905 2 858450 982661 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543954 S 1557 0 1 SNTG2 1780862089_A esv1780963 2 864809 864809 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933845 S 2 1 0 "" HuRef esv994194 2 876144 876227 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585969 S 3 0 1 "" HuRef nsv508768 2 877763 952010 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619889,nssv621158 M 4 2 0 SNTG2 NA10860,NA15510 esv29889 2 895276 895921 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12527 S 451 18 0 "" NA07045,NA11931,NA11993,NA11995,NA12004,NA12156,NA12287,NA12749,NA12776,NA12878,NA15510,NA18508,NA18511,NA18523,NA18858,NA18916,NA19108,NA19225 esv989388 2 895406 895921 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586445 S 3 0 1 "" HuRef esv24379 2 897782 899792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13308 S 451 0 5 "" NA12828,NA18517,NA18907,NA18909,NA19225 esv2493867 2 897960 899674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184543 S 1 0 1 "" NA18507 esv1000324 2 898044 899272 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565130 S 3 0 1 "" HuRef esv1230210 2 899236 899236 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358594 S 2 1 0 "" HuRef esv24923 2 911613 915448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12498,esv20226,esv19011 M 451 0 22 "" NA06985,NA11995,NA12004,NA12156,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 esv1054710 2 913898 914501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720906 S 2 0 1 "" HuRef esv1734668 2 918117 918117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149952 S 2 1 0 "" HuRef esv1687043 2 922773 922773 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890133 S 2 1 0 "" HuRef nsv827908 2 927885 945198 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426448 S 31 1 0 SNTG2 AK6 esv2188360 2 950720 951152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744564 S 1 0 1 SNTG2 NA18507 nsv827920 2 965419 966018 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424017,nssv1438140,nssv1423997,nssv1438637,nssv1424800,nssv1436074,nssv1436401,nssv1433481,nssv1437997,nssv1440182 M 31 10 0 SNTG2 AK2,NA18526,NA18542,NA18547,NA18564,NA18582,NA18592,NA18951,NA18968,NA18973 nsv214107 2 991493 991542 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232685 M 24 SNTG2 esv4011 2 995135 995595 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26452 S 1 0 1 Single Asian sample YH SNTG2 YH nsv873557 2 995298 1150034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573672 S 6533 1 0 SNTG2 IS33487 esv2556327 2 998034 1000762 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193530 S 1 0 1 SNTG2 NA18507 nsv821278 2 998207 1000612 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419893 S 1 0 1 SNTG2 NA10851 esv26963 2 998223 1000537 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13357 S 451 26 0 SNTG2 NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12239,NA12414,NA12749,NA12776,NA12878,NA15510,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19240,NA19257 nsv511756 2 998238 1000098 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626403 S 1 0 1 SNTG2 1 esv1177146 2 998546 999397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150244 S 2 0 1 SNTG2 HuRef esv1182776 2 999443 999517 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964810 S 2 0 1 SNTG2 HuRef esv1420311 2 999521 999595 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105275 S 2 0 1 SNTG2 HuRef esv1684264 2 999663 999996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044837 S 2 0 1 SNTG2 HuRef esv2750739 2 1041893 1043486 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98099 S 51 0 1 SNTG2 22259 esv1785618 2 1042405 1042541 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209392 S 2 0 1 SNTG2 HuRef esv2594417 2 1079086 1081161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383462 S 1 0 1 SNTG2 NA18507 esv2021015 2 1079393 1079912 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757567 S 1 0 1 SNTG2 NA18507 esv4971 2 1079547 1080809 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27412 S 1 0 1 Single Asian sample YH SNTG2 YH nsv820761 2 1079649 1080814 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419904 S 1 0 1 SNTG2 NA10851 esv25805 2 1079649 1101412 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20344,esv12620,esv14565,esv18793 M 451 6 31 SNTG2 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1006304 2 1085851 1095167 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564490 S 3 0 1 SNTG2 HuRef esv5053 2 1091651 1092323 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27494 S 1 0 1 Single Asian sample YH SNTG2 YH esv1772570 2 1092978 1094694 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055110 S 2 0 1 SNTG2 HuRef esv2491095 2 1099110 1102487 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187053 S 1 0 1 SNTG2 NA18507 esv23155 2 1108176 1109526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11462 S 451 0 1 SNTG2 NA18916 esv29923 2 1128817 1130050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12197 S 451 0 1 SNTG2 NA11993 esv27993 2 1131529 1144686 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16132 S 451 1 0 SNTG2 NA19108 esv267937 2 1136182 1136267 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516444 S 157 1 0 Samples from several populations that are part of the HapMap project. SNTG2 NA12814 esv1729282 2 1136956 1136956 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825364 S 2 1 0 SNTG2 HuRef esv275045 2 1180248 1186834 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585571 S 1250 0 1 SNTG2 esv272138 2 1184833 1185170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571032,essv2531938,essv2577474,essv2570377,essv2576759,essv2535114,essv2554273,essv2520620,essv2564718,essv2553706,essv2555042,essv2528290,essv2547003,essv2520815,essv2569439,essv2578754,essv2538869,essv2527223,essv2561732,essv2544695,essv2562813,essv2552817,essv2541248,essv2538319,essv2542900,essv2540551,essv2524579,essv2564920,essv2561004,essv2549411,essv2522029,essv2566168,essv2530908,essv2532683,essv2567883,essv2528929,essv2570000,essv2563589,essv2535882,essv2572430,essv2542062,essv2543653,essv2528116,essv2534143,essv2533754,essv2566393,essv2530088,essv2574054,essv2555855,essv2534470,essv2573442,essv2543295,essv2572073,essv2525751,essv2575711,essv2575123,essv2568749,essv2571243,essv2545830,essv2574208,essv2536273,essv2538168,essv2532990,essv2554564,essv2547898,essv2558057 M 157 66 0 Samples from several populations that are part of the HapMap project. SNTG2 NA06986,NA07000,NA07051,NA07346,NA07347,NA10851,NA11993,NA12006,NA12043,NA12044,NA12154,NA12249,NA12287,NA12716,NA12751,NA12763,NA12872,NA12891,NA12892,NA18498,NA18508,NA18510,NA18519,NA18522,NA18523,NA18526,NA18532,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18564,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18603,NA18608,NA18609,NA18856,NA18870,NA18907,NA18916,NA18944,NA18948,NA18949,NA18951,NA18956,NA18959,NA18964,NA18965,NA18973,NA18980,NA19099,NA19102,NA19147,NA19238,NA19239,NA19240 esv273601 2 1184836 1185167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582737,essv2583175,essv2584205,essv2584414,essv2583852 M 7 5 0 Samples from several populations that are part of the HapMap project. SNTG2 NA12891,NA12892,NA19238,NA19239,NA19240 nsv2565 2 1187715 1234009 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10202,nssv6808,nssv4383 M 9 3 0 SNTG2 NA12156,NA12878,NA18956 nsv508779 2 1192524 1226386 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619890 S 4 1 0 SNTG2 NA10860 nsv873558 2 1194796 1299150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546476 S 6533 0 1 SNTG2 MS17208 esv27414 2 1206894 1209794 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9784,esv19553 M 451 13 10 SNTG2 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18517,NA18858,NA18907,NA18916,NA19114,NA19129,NA19225 esv1295552 2 1208007 1208007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799046 S 2 1 0 SNTG2 HuRef esv1172694 2 1208220 1208220 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064592 S 2 1 0 SNTG2 HuRef esv1277876 2 1208248 1208248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848308 S 2 1 0 SNTG2 HuRef nsv821574 2 1208452 1209844 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419915 S 1 0 1 SNTG2 NA10851 esv989870 2 1208584 1209704 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586676 S 3 1 0 SNTG2 HuRef esv1548787 2 1208599 1208599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139949 S 2 1 0 SNTG2 HuRef nsv215334 2 1249021 1249021 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233912 M 24 SNTG2 esv2455698 2 1263413 1264420 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339335 S 1 1 0 SNTG2 NA18507 nsv873559 2 1277922 1443268 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581598 S 6533 1 0 SNTG2,TPO IS35654 nsv511757 2 1298451 1300998 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626404 S 1 0 1 SNTG2 1 esv27230 2 1299319 1301346 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12679 S 451 0 9 SNTG2 NA07045,NA11995,NA12156,NA12749,NA12776,NA12828,NA12878,NA19190,NA19240 esv1922088 2 1299349 1300210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908106 S 1 0 1 SNTG2 NA18507 esv1939838 2 1306050 1306527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906814 S 1 0 1 SNTG2 NA18507 nsv820345 2 1324905 1329165 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419926 S 1 0 1 SNTG2 NA10851 nsv511758 2 1324971 1329055 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626405 S 1 0 1 SNTG2 1 esv23636 2 1325040 1329150 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13996 S 451 3 17 SNTG2 NA11995,NA12156,NA12489,NA12828,NA12878,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19225,NA19240,NA19257 nsv514980 2 1325107 1328330 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628465 S 1414 0 0 SNTG2 nsv214978 2 1327894 1329029 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233556 M 24 SNTG2 nsv511759 2 1336298 1338263 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626406 S 1 0 1 SNTG2 1 esv2571201 2 1336518 1337979 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272667 S 1 0 1 SNTG2 NA18507 esv2024635 2 1336861 1337394 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873771 S 1 0 1 SNTG2 NA18507 esv2273265 2 1336919 1337661 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610480 S 1 0 1 SNTG2 NA18507 esv5074 2 1336961 1337726 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27515 S 1 0 1 Single Asian sample YH SNTG2 YH nsv215284 2 1336994 1337437 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233862 M 24 SNTG2 esv1000564 2 1337001 1337107 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577436 S 3 0 1 SNTG2 HuRef esv8388 2 1337031 1337512 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30829 S 1 0 1 SNTG2 SJK esv27633 2 1344051 1346376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14702 S 451 0 7 SNTG2 NA07037,NA12004,NA12828,NA18909,NA19114,NA19147,NA19257 esv1005044 2 1344332 1345681 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586236 S 3 0 1 SNTG2 HuRef nsv468916 2 1357950 1498557 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543960 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TPO HGDP00766 esv268944 2 1381158 1381243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517479 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 nsv2567 2 1391604 1425116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7456 S 9 1 0 TPO NA12156 esv1053095 2 1400206 1400605 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835727 S 2 0 1 TPO HuRef esv1496362 2 1405112 1405112 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761572 S 2 1 0 TPO HuRef nsv527311 2 1405628 1495794 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703734 S 2026 1 0 TPO nsv818900 2 1405628 1499683 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416297 S 112 1 0 TPO NA18856 esv8113 2 1407520 1408098 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30554 S 1 0 1 TPO SJK dgv1138e1 2 1410597 1484084 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1062,essv11483 M 271 0 0 TPO NA18856 esv35100 2 1410806 1484084 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979893,essv6979892,essv6979891 M 771 1 0 TPO NA18856 nsv873560 2 1413375 1455998 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520339 S 6533 1 0 TPO SP50827 nsv833204 2 1420083 1613342 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441764,nssv1441765 M 95 2 0 TPO nsv511760 2 1425550 1428419 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626407 S 1 0 1 TPO 1 nsv9269 2 1425894 1433235 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26395,nssv22438 M 31 2 0 Samples from several populations that are part of the HapMap project. TPO NA18975,NA19144 esv1516032 2 1427814 1428412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589598 S 2 0 1 TPO HuRef nsv525619 2 1434010 1435835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701765 S 2026 0 1 TPO dgv4040n71 2 1438468 1647573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873561,nsv873563 M 6533 0 2 PXDN,TPO MS13770,MS16153 esv2643071 2 1439072 1440855 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175951 S 1 0 1 TPO NA18507 nsv511761 2 1439108 1440580 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626408 S 1 0 1 TPO 1 nsv214173 2 1439269 1439746 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232751 M 24 TPO esv22106 2 1439304 1440434 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16650 S 451 1 0 TPO NA18508 esv1641412 2 1439973 1440239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012581 S 2 0 1 TPO HuRef nsv2568 2 1447723 1481059 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5768 S 9 1 0 TPO NA19129 esv272127 2 1450701 1451042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518586,essv2516372,essv2515604,essv2515908,essv2517854,essv2518996,essv2518313 M 157 7 0 Samples from several populations that are part of the HapMap project. TPO NA12287,NA12814,NA12815,NA12873,NA12878,NA19141,NA19240 esv274018 2 1450701 1451042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581499,essv2581301 M 7 2 0 Samples from several populations that are part of the HapMap project. TPO NA12878,NA19240 nsv827931 2 1452634 1465087 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426449 S 31 1 0 TPO AK6 nsv873562 2 1455998 1517506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530441 S 6533 0 1 TPO MS10311 esv27443 2 1472788 1473328 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17532 S 451 1 0 TPO NA18511 esv1010288 2 1472848 1472897 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584009 S 3 0 1 TPO HuRef esv1471512 2 1472896 1472946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257430 S 2 0 1 TPO HuRef nsv214904 2 1476202 1476273 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233482 M 24 TPO nsv527538 2 1478934 1499683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703999 S 2026 0 1 TPO nsv873564 2 1487692 1846247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581599 S 6533 1 0 MYT1L,PXDN,TPO IS35654 esv2371250 2 1493980 1494438 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764466 S 1 0 1 TPO NA18507 nsv873565 2 1498557 1598128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537049 S 6533 0 1 TPO MS13095 nsv508790 2 1498704 1521353 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619891,nssv621159 M 4 2 0 TPO NA10860,NA15510 esv1002938 2 1503585 1508451 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565697 S 3 1 0 TPO HuRef nsv511195 2 1504536 1507627 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626499 S 1 0 1 TPO 1 dgv603n67 2 1504668 1522510 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827942,nsv827953,nsv827986,nsv827964,nsv827975 M 31 0 24 TPO AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18973,NA18997,NA18999 esv24515 2 1504719 1521768 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16223,esv14680,esv14915,esv16379,esv18682,esv14747,esv19490 M 451 10 12 TPO NA06985,NA07037,NA11894,NA11993,NA12006,NA12239,NA12414,NA12776,NA12828,NA15510,NA18502,NA18508,NA18511,NA18858,NA18909,NA18916,NA19108,NA19114,NA19190,NA19257 nsv821156 2 1504719 1522510 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419937 S 1 0 1 TPO NA10851 nsv214040 2 1504856 1504976 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232618 M 24 TPO esv3911 2 1504963 1505244 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26352 S 1 0 1 Single Asian sample YH TPO YH esv2598362 2 1506261 1521816 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286956 S 1 0 1 TPO NA18507 esv2042950 2 1507294 1508196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660824 S 1 0 1 TPO NA18507 esv4097 2 1509149 1512357 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26538 S 1 1 0 Single Asian sample YH TPO YH esv1747962 2 1509180 1510056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979040 S 2 0 1 TPO HuRef esv8957 2 1509455 1519405 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31398 S 1 0 1 TPO SJK nsv215163 2 1510611 1510611 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233741 M 24 TPO esv4834 2 1512357 1517129 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27275 S 1 0 1 Single Asian sample YH TPO YH esv1006306 2 1514159 1515134 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586165 S 3 1 0 TPO HuRef nsv2569 2 1514848 1521188 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1471 S 9 1 0 TPO NA19240 esv999851 2 1516265 1520478 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586571 S 3 1 0 TPO HuRef dgv604n67 2 1516897 1518484 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv827997,nsv828031 M 31 0 3 TPO NA18537,NA18570,NA18951 dgv605n67 2 1516897 1519763 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828008,nsv828019 M 31 0 2 TPO NA18547,NA18968 esv1981245 2 1520673 1521134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4761890 S 1 0 1 TPO NA18507 esv25207 2 1548076 1549177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12043 S 451 0 1 "" NA12004 esv997632 2 1548207 1548266 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571670 S 3 0 1 "" HuRef nsv873566 2 1549420 1740668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520340 S 6533 1 0 PXDN SP50827 esv23464 2 1563531 1564806 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20044 S 451 5 0 "" NA11894,NA12239,NA12489,NA19108,NA19147 esv998345 2 1563531 1564806 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586582 S 3 0 1 "" HuRef esv6888 2 1563557 1564301 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29329 S 1 0 1 "" SJK esv1006994 2 1563668 1564086 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584261 S 3 0 1 "" HuRef esv1489120 2 1563700 1564119 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733879 S 2 0 1 "" HuRef esv7178 2 1578532 1580289 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29619 S 1 0 1 "" SJK esv1036847 2 1578553 1578553 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955978 S 2 1 0 "" HuRef esv1016524 2 1578725 1578725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265622 S 2 1 0 "" HuRef esv2334207 2 1583655 1584137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899617 S 1 0 1 "" NA18507 nsv511762 2 1593165 1594692 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626409 S 1 0 1 "" 1 esv21880 2 1593372 1594825 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18238 S 451 2 0 "" NA07045,NA12239 esv2518000 2 1593421 1595097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352986 S 1 0 1 "" NA18507 nsv873567 2 1601147 1698090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530442 S 6533 0 1 PXDN MS10311 esv1008434 2 1601800 1602513 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586755 S 3 0 1 "" HuRef esv2001156 2 1601852 1602323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573648 S 1 0 1 "" NA18507 esv28676 2 1601919 1602628 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12930 S 451 3 0 "" NA12239,NA12828,NA18858 esv7150 2 1601980 1602481 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29591 S 1 0 1 "" SJK nsv215170 2 1602017 1602145 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233748 M 24 "" esv2077923 2 1602149 1602608 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799043 S 1 0 1 "" NA18507 esv1160442 2 1602371 1602456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165451 S 2 0 1 "" HuRef esv2306287 2 1604723 1605201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684385 S 1 0 1 "" NA18507 esv1011031 2 1604886 1605072 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573829 S 3 0 1 "" HuRef esv1676106 2 1604916 1605103 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111462 S 2 0 1 "" HuRef nsv521199 2 1605399 1631667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705611,nssv691309,nssv684830,nssv696248 M 2026 0 4 PXDN dgv4041n71 2 1605399 1655395 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873569,nsv873568 M 6533 0 2 PXDN MS17208,MS18276 esv1243391 2 1620224 1620224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684905 S 2 1 0 PXDN HuRef esv2270555 2 1620382 1620932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595700 S 1 0 1 PXDN NA18507 nsv215054 2 1621811 1621862 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233632 M 24 PXDN esv1009579 2 1621825 1621876 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569310 S 3 0 1 PXDN HuRef esv1343489 2 1621860 1621912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252130 S 2 0 1 PXDN HuRef dgv606n67 2 1637874 1640934 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828042,nsv828053 M 31 2 0 PXDN AK14,NA18997 nsv828064 2 1642030 1642538 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431882 S 31 1 0 PXDN AK20 nsv828075 2 1664933 1666778 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431883 S 31 1 0 PXDN AK20 esv989069 2 1666248 1666248 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569118 S 3 1 0 PXDN HuRef esv1443452 2 1666249 1666322 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733254 S 2 0 1 PXDN HuRef esv1407173 2 1666322 1666322 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832255 S 2 1 0 PXDN HuRef nsv873570 2 1678720 1834724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549616 S 6533 0 1 MYT1L,PXDN MS18276 esv2544823 2 1685034 1687678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204839 S 1 0 1 PXDN NA18507 esv2045423 2 1685565 1686458 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630390 S 1 0 1 PXDN NA18507 esv28170 2 1685743 1687549 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13324 S 451 2 9 PXDN NA11993,NA12006,NA12239,NA18858,NA18861,NA18907,NA19108,NA19114,NA19190,NA19240,NA19257 nsv821306 2 1685743 1687549 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419948 S 1 0 1 PXDN NA10851 esv26558 2 1689235 1690212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21250 S 451 0 2 PXDN NA07045,NA12004 esv1653800 2 1689388 1689518 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782816 S 2 0 1 PXDN HuRef esv1629001 2 1689757 1689757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683838 S 2 1 0 PXDN HuRef esv1278021 2 1689913 1689913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033672 S 2 1 0 PXDN HuRef esv23941 2 1709453 1728401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14374 S 451 0 1 PXDN NA19257 esv1002606 2 1714065 1714114 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579345 S 3 0 1 PXDN HuRef esv1273929 2 1714072 1714122 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207706 S 2 0 1 PXDN HuRef nsv828086 2 1721943 1741744 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426451 S 31 1 0 PXDN AK6 nsv828097 2 1725597 1728335 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432650 S 31 1 0 PXDN NA18972 esv28568 2 1732530 1734014 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15527,esv19228 M 451 3 0 "" NA12239,NA18907,NA19225 nsv2570 2 1736828 1771037 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3006 S 9 1 0 "" NA18555 esv2531234 2 1739173 1740659 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271557 S 1 0 1 "" NA18507 esv2384365 2 1739441 1740103 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663209 S 1 0 1 "" NA18507 esv3035 2 1739462 1740181 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25476 S 1 0 1 Single Asian sample YH "" YH esv7728 2 1739566 1739993 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30169 S 1 0 1 "" SJK nsv215164 2 1739661 1740046 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233742 M 24 "" nsv470440 2 1740668 1803129 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547164 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYT1L HGDP00894 nsv873571 2 1767854 1834724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543372 S 6533 0 1 MYT1L MS16153 esv1354694 2 1780712 1780712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176965 S 2 1 0 MYT1L HuRef nsv215466 2 1805530 1805587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234044 M 24 MYT1L nsv213819 2 1805564 1805621 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232397 M 24 MYT1L nsv508801 2 1806923 1855983 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623856,nssv619892 M 4 2 0 MYT1L NA10860,NA18994 nsv433166 2 1850484 1854799 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463047 S 9 0 1 Samples from several populations that are part of the HapMap project. MYT1L NA18956 dgv1139e1 2 1875438 2043855 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8467,esv75,essv11547 M 271 0 0 MYT1L NA18516,NA19173 nsv833215 2 1907672 2111233 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441767,nssv1441766 M 95 0 2 MYT1L esv1011603 2 1935662 1935732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032978 S 2 0 1 MYT1L HuRef nsv9280 2 1944969 1949205 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27617 S 31 1 0 Samples from several populations that are part of the HapMap project. MYT1L NA12155 esv999007 2 1979291 1979359 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571962 S 3 0 1 MYT1L HuRef esv1336055 2 1979328 1979397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113554 S 2 0 1 MYT1L HuRef nsv833226 2 1985883 2178033 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441768 S 95 0 1 MYT1L esv26151 2 1986780 1988992 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10587 S 451 0 2 MYT1L NA18909,NA19114 esv2045899 2 1987775 1988469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860407 S 1 0 1 MYT1L NA18507 nsv2571 2 1999231 2031828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10203 S 9 1 0 MYT1L NA18956 esv26557 2 2014281 2019478 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9952,esv13677 M 451 1 8 MYT1L NA11993,NA12006,NA12156,NA12878,NA18505,NA18517,NA18861,NA18909,NA19147 esv2498228 2 2016848 2019342 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194708 S 1 0 1 MYT1L NA18507 nsv820484 2 2016914 2019478 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419959 S 1 0 1 MYT1L NA10851 esv1004740 2 2017042 2019092 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586286 S 3 0 1 MYT1L HuRef esv1109475 2 2017122 2018069 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866508 S 2 0 1 MYT1L HuRef esv1230269 2 2018141 2019038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036583 S 2 0 1 MYT1L HuRef nsv828108 2 2037018 2037648 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437282 S 31 0 1 MYT1L NA18949 nsv873572 2 2045684 2142083 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551618 S 6533 1 0 MYT1L MS18948 nsv528587 2 2126428 2183186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705212 S 2026 0 1 MYT1L nsv833237 2 2152848 2332916 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441769 S 95 0 1 LOC730811,MYT1L esv29784 2 2157376 2158472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19746 S 451 0 1 MYT1L NA19114 esv32943 2 2165127 2173231 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99477 S 51 1 0 MYT1L 22335 esv2604908 2 2239849 2242996 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259483 S 1 0 1 MYT1L NA18507 esv2073375 2 2240228 2242405 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4742365 S 1 0 1 MYT1L NA18507 nsv213832 2 2245719 2245719 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232410 M 24 MYT1L esv1464832 2 2278372 2278372 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321114 S 2 1 0 MYT1L HuRef nsv819486 2 2394558 2403870 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418570 S 2 0 1 "" AK1 nsv873573 2 2435031 2658488 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561751 S 6533 1 0 "" MS25216 nsv2572 2 2471280 2514285 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7457 S 9 0 1 "" NA12156 esv2503509 2 2475528 2476863 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190109 S 1 0 1 "" NA18507 esv2124779 2 2476021 2476562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935458 S 1 0 1 "" NA18507 esv1008108 2 2502835 2502835 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570630 S 3 1 0 "" HuRef esv994670 2 2502856 2502856 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572671 S 3 1 0 "" HuRef esv1550622 2 2502877 2502877 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360570 S 2 1 0 "" HuRef esv272033 2 2518920 2519252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575944,essv2540923,essv2546379,essv2525906,essv2536468,essv2522860,essv2545430,essv2532006,essv2577505,essv2570362,essv2548253,essv2576740,essv2550562,essv2525210,essv2550354,essv2535371,essv2552215,essv2520589,essv2529331,essv2558434,essv2564367,essv2577989,essv2559414,essv2576470,essv2520264,essv2563997,essv2555037,essv2530580,essv2562095,essv2537305,essv2528453,essv2546766,essv2556940,essv2552454,essv2532051,essv2561432,essv2544970,essv2562875,essv2523837,essv2553041,essv2538256,essv2542672,essv2540495,essv2524692,essv2565069,essv2561220,essv2539818,essv2549171,essv2519642,essv2559887,essv2521908,essv2566077,essv2530958,essv2532899,essv2568025,essv2528947,essv2541509,essv2570075,essv2563578,essv2553418,essv2535889,essv2572559,essv2566858,essv2542019,essv2543734,essv2578459,essv2573126,essv2555347,essv2533541,essv2555719,essv2567183,essv2566599,essv2573953,essv2534206,essv2522319,essv2531552,essv2577027,essv2571876,essv2525656,essv2527010,essv2526409,essv2560646,essv2524252,essv2574698,essv2537757,essv2548882,essv2533042,essv2554655,essv2547907,essv2525126,essv2558136 M 157 91 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11881,NA11918,NA11920,NA11931,NA12003,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12234,NA12249,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18870,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18959,NA18960,NA18961,NA18970,NA18973,NA18980,NA19005,NA19114,NA19116,NA19129,NA19138 esv274250 2 2518923 2519253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581844,essv2582372,essv2582908 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1002328 2 2518940 2518940 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572782 S 3 1 0 "" HuRef esv22402 2 2562810 2564240 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17289 S 451 1 0 "" NA11993 nsv468927 2 2581405 2604255 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543969 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00031 esv275036 2 2587800 2589527 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585895,essv2585478 M 1250 1 1 "" nsv828119 2 2596574 2597279 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436403 S 31 0 1 "" NA18542 nsv818911 2 2603405 2616742 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416298 S 112 1 0 "" NA18855 esv1738675 2 2633385 2633385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902819 S 2 1 0 "" HuRef nsv2573 2 2667690 2681404 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7458 S 9 0 1 "" NA12156 nsv873574 2 2684936 2924462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561752 S 6533 1 0 "" MS25216 esv3954 2 2699371 2699704 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26395 S 1 0 1 Single Asian sample YH "" YH esv1240776 2 2703974 2704042 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126049 S 2 0 1 "" HuRef esv2212638 2 2705112 2705853 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815049 S 1 0 1 "" NA18507 esv27323 2 2705147 2705842 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15140 S 451 3 0 "" NA11894,NA18505,NA18523 nsv820989 2 2705147 2705842 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419970 S 1 0 1 "" NA10851 esv3277 2 2705264 2705749 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25718 S 1 0 1 Single Asian sample YH "" YH nsv214805 2 2705309 2705536 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233383 M 24 "" esv26711 2 2718132 2719767 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10558 S 451 2 0 "" NA06985,NA12776 nsv873575 2 2718605 2754702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530443 S 6533 0 1 "" MS10311 nsv873576 2 2720453 2740148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540933 S 6533 0 1 "" MS15094 esv2492001 2 2732986 2733494 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251874 S 1 1 0 "" NA18507 esv990725 2 2741051 2753813 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563633 S 3 0 1 "" HuRef esv2310757 2 2775323 2776117 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4781502 S 1 0 1 "" NA18507 esv5351 2 2775372 2776023 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27792 S 1 0 1 Single Asian sample YH "" YH esv1165023 2 2775846 2775846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063766 S 2 1 0 "" HuRef esv27700 2 2777617 2778107 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11737 S 451 0 1 "" NA07045 esv3680 2 2777707 2778330 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26121 S 1 0 1 Single Asian sample YH "" YH dgv607n67 2 2777733 2778467 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828130,nsv828142 M 31 3 0 "" NA18526,NA18547,NA18969 nsv821449 2 2777733 2778467 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419981 S 1 0 1 "" NA10851 esv991517 2 2777781 2778250 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567894 S 3 0 1 "" HuRef nsv828153 2 2796890 2808987 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431884 S 31 0 1 "" AK20 esv2269333 2 2839263 2839655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838441 S 1 0 1 "" NA18507 esv1279695 2 2848377 2848451 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603875 S 2 0 1 "" HuRef esv1378693 2 2848763 2848894 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820798 S 2 0 1 "" HuRef esv1598679 2 2848953 2848953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128603 S 2 1 0 "" HuRef esv1398142 2 2867125 2867200 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590253 S 2 0 1 "" HuRef nsv526520 2 2880768 2881261 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702831 S 2026 1 0 "" esv1578007 2 2889388 2889524 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255657 S 2 0 1 "" HuRef esv22381 2 2889441 2889991 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14793 S 451 0 1 "" NA11931 nsv528764 2 2925053 2925338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705426 S 2026 0 1 "" nsv873577 2 3008049 3092378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530444 S 6533 0 1 "" MS10311 esv1112972 2 3026316 3026316 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299511 S 2 1 0 "" HuRef esv1495137 2 3028800 3028800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191797 S 2 1 0 "" HuRef esv2423295 2 3040128 3041199 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276742 S 1 1 0 "" NA18507 esv4586 2 3040231 3040738 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27027 S 1 0 1 Single Asian sample YH "" YH nsv524948 2 3042244 3060050 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700966 S 2026 0 1 "" nsv523012 2 3047341 3052190 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698687 S 2026 1 0 "" nsv873578 2 3096254 3189734 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581099 S 6533 1 0 TSSC1 IS35499 nsv518752 2 3106217 3106650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696201 S 2026 0 1 "" nsv873579 2 3110103 3189734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546478 S 6533 0 1 TSSC1 MS17208 nsv523510 2 3116122 3131473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699282 S 2026 0 1 "" nsv873580 2 3121507 3177182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592111 S 6533 0 1 TSSC1 IS39233 nsv524365 2 3130664 3142745 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700276 S 2026 0 1 "" nsv2581 2 3152729 3178867 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11007,nssv2248,nssv1473,nssv10205,nssv5771,nssv4389,nssv6812 M 9 7 0 TSSC1 NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 esv1102166 2 3153856 3153856 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023650 S 2 1 0 "" HuRef nsv213472 2 3153893 3153893 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232050 M 24 "" nsv528723 2 3154999 3169976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705377 S 2026 0 1 "" nsv873581 2 3154999 3263059 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577717 S 6533 1 0 TSSC1 IS34531 nsv146 2 3158354 3178867 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv146 S 1 1 0 TSSC1 NA15510 esv1005249 2 3162436 3163688 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565297 S 3 1 0 "" HuRef nsv9313 2 3162875 3165390 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27725,nssv27821,nssv27835 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA18564 esv1301905 2 3163228 3163228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906942 S 2 1 0 "" HuRef esv996843 2 3163234 3164259 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586623 S 3 1 0 "" HuRef esv23240 2 3163234 3164299 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11128 S 451 1 1 "" NA06985,NA18502 nsv820837 2 3163234 3164299 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1419993 S 1 1 0 "" NA10851 esv1752743 2 3163251 3163251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812019 S 2 1 0 "" HuRef nsv499090 2 3163254 3163804 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586325 S 9 1 0 "" esv1238535 2 3163266 3163266 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720348 S 2 1 0 "" HuRef esv5417 2 3163281 3163429 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27858 S 1 0 0 Single Asian sample YH "" YH esv1512825 2 3163299 3163299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588583 S 2 1 0 "" HuRef nsv214571 2 3163320 3163320 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233149 M 24 "" nsv214955 2 3163775 3163775 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233533 M 24 "" esv1002496 2 3163810 3164321 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586912 S 3 1 0 "" HuRef esv1751298 2 3163918 3163918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933538 S 2 1 0 "" HuRef esv990138 2 3182464 3182464 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570802 S 3 1 0 TSSC1 HuRef esv6954 2 3182493 3182586 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29395 S 1 1 0 TSSC1 SJK esv1332508 2 3182531 3182531 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342480 S 2 1 0 TSSC1 HuRef nsv213961 2 3182578 3182635 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232539 M 24 TSSC1 esv1275017 2 3204479 3204479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125292 S 2 1 0 TSSC1 HuRef nsv2582 2 3209915 3244846 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1474 S 9 1 0 TSSC1 NA19240 esv1457193 2 3222912 3222912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843998 S 2 1 0 TSSC1 HuRef esv3034 2 3222977 3224122 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25475 S 1 0 1 Single Asian sample YH TSSC1 YH esv1790966 2 3223037 3223037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747044 S 2 1 0 TSSC1 HuRef esv1132688 2 3223444 3223444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597112 S 2 1 0 TSSC1 HuRef esv1510808 2 3223728 3223728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025763 S 2 1 0 TSSC1 HuRef esv2206412 2 3224876 3225272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966553 S 1 0 1 TSSC1 NA18507 esv992005 2 3225031 3225139 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574271 S 3 0 1 TSSC1 HuRef esv1558154 2 3225066 3225175 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818712 S 2 0 1 TSSC1 HuRef esv275148 2 3228657 3229255 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585599,essv2585522 M 1250 1 1 TSSC1 nsv873582 2 3239073 3334977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546479 S 6533 0 1 TSSC1 MS17208 nsv213539 2 3252074 3252238 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232117 M 24 TSSC1 esv1000150 2 3277114 3278718 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563624 S 3 1 0 TSSC1 HuRef esv2535058 2 3286863 3288491 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220885 S 1 0 1 TSSC1 NA18507 esv1597731 2 3287274 3287434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326386 S 2 0 1 TSSC1 HuRef nsv873583 2 3288022 3342118 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581100 S 6533 1 0 TSSC1 IS35499 nsv2583 2 3310988 3315797 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4390 S 9 1 0 TSSC1 NA12878 esv6094 2 3311707 3312078 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28535 S 1 0 1 TSSC1 SJK esv992834 2 3311708 3312107 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572849 S 3 0 1 TSSC1 HuRef esv1349936 2 3312038 3312038 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865491 S 2 1 0 TSSC1 HuRef nsv873584 2 3345897 3451672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532365 S 6533 0 1 TSSC1,TTC15 MS10769 nsv520390 2 3398018 3414675 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679759,nssv663545,nssv683084 M 2026 3 0 TTC15 esv997718 2 3400869 3401485 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564396 S 3 1 0 TTC15 HuRef nsv473532 2 3400904 3400966 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557991 S 9 1 0 Samples from several populations that are part of the HapMap project. TTC15 NA19129 dgv4042n71 2 3417362 3487138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873586,nsv873585 M 6533 0 2 ADI1,TTC15 MS16153,MS17208 nsv2584 2 3418551 3431175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5772 S 9 1 0 TTC15 NA19129 esv25165 2 3419422 3421257 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20783 S 451 1 2 TTC15 NA12828,NA15510,NA19129 nsv821316 2 3419422 3421257 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420004 S 1 0 1 TTC15 NA10851 esv1396860 2 3419653 3420176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181874 S 2 0 1 TTC15 HuRef esv2392388 2 3424718 3425125 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573401 S 1 0 1 TTC15 NA18507 nsv214768 2 3431541 3431541 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233346 M 24 TTC15 nsv873587 2 3434699 3633618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549617 S 6533 0 1 ADI1,COLEC11,LOC100506054,RNASEH1,RPS7,TTC15 MS18276 esv2258495 2 3469309 3469766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987095 S 1 0 1 "" NA18507 esv275511 2 3477890 3498747 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585309,essv2585126 M 1250 1 1 ADI1 nsv873588 2 3477890 3624992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544917 S 6533 1 0 ADI1,COLEC11,LOC100506054,RNASEH1,RPS7 MS16588 nsv873589 2 3498747 3676246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585797 S 6533 0 1 ADI1,COLEC11,LOC100506054,RNASEH1,RPS7 IS37646 esv271393 2 3507127 3507212 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515112,essv2515832 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA18969 nsv873590 2 3565156 3633618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530445 S 6533 0 1 COLEC11,LOC100506054,RNASEH1,RPS7 MS10311 nsv819972 2 3576872 3585867 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418564 S 2 1 0 LOC100506054,RNASEH1 AK1 nsv873591 2 3586631 3923350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563544 S 6533 1 0 ALLC,COLEC11,LOC100506054,RPS7 MS26110 esv1314700 2 3616996 3617111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101186 S 2 0 1 "" HuRef nsv468950 2 3623304 3654897 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543982 S 1557 0 1 COLEC11 1780862444_A nsv818922 2 3623304 3713701 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416299 S 112 1 0 ALLC,COLEC11 NA18855 esv1749783 2 3630863 3630863 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765844 S 2 1 0 COLEC11 HuRef nsv468961 2 3633618 4102531 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv543988 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALLC,COLEC11,LOC100505964 HGDP00259 dgv4043n71 2 3643217 3696102 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873593,nsv873592 M 6533 2 0 ALLC,COLEC11 IS40055,MS16588 nsv214922 2 3666429 3666429 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233500 M 24 COLEC11 esv994394 2 3673032 3673032 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566891 S 3 1 0 "" HuRef esv1575343 2 3673089 3673089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931433 S 2 1 0 "" HuRef nsv213741 2 3673191 3673191 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232319 M 24 "" nsv2574 2 3678672 3699307 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4385 S 9 1 0 ALLC NA12878 nsv517058 2 3689794 3690772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686954,nssv656184,nssv666945,nssv653702,nssv679875,nssv670122 M 2026 0 6 ALLC nsv873594 2 3692890 3729999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579149 S 6533 0 1 ALLC IS35027 esv29025 2 3695384 3698202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12927,esv20942 M 451 0 3 ALLC NA11993,NA12004,NA12489 esv271682 2 3696304 3696656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500875,essv2510979,essv2506809,essv2495465,essv2511388,essv2504464,essv2508017,essv2505497,essv2495875,essv2503380,essv2500326,essv2496864,essv2511794,essv2510715,essv2502995,essv2509767,essv2494822,essv2511286,essv2505187,essv2507268,essv2494091,essv2513253,essv2495676,essv2503737,essv2504781,essv2499203,essv2497733,essv2496978,essv2501799,essv2498162,essv2503970,essv2499505 M 157 32 0 Samples from several populations that are part of the HapMap project. ALLC NA07037,NA07357,NA11830,NA11831,NA11918,NA11919,NA11920,NA11993,NA12003,NA12154,NA12489,NA12716,NA12891,NA18498,NA18499,NA18501,NA18507,NA18508,NA18519,NA18570,NA18853,NA18870,NA18871,NA18907,NA18916,NA18960,NA19099,NA19114,NA19147,NA19190,NA19239,NA19240 esv273654 2 3696310 3696639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580118,essv2580037,essv2580703 M 7 3 0 Samples from several populations that are part of the HapMap project. ALLC NA12878,NA12892,NA19238 esv2428176 2 3696738 3698914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206050 S 1 0 1 ALLC NA18507 nsv873595 2 3700901 3923350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544919 S 6533 1 0 ALLC MS16588 nsv523573 2 3704038 3722603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699355 S 2026 0 1 ALLC nsv2575 2 3707111 3726000 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4386 S 9 0 1 ALLC NA12878 nsv498908 2 3710680 3715904 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585769 S 9 0 1 ALLC esv27648 2 3710705 3715673 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16963 S 451 0 2 ALLC NA11894,NA12878 nsv828164 2 3713077 3714608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440186,nssv1439515,nssv1429622 M 31 0 3 ALLC AK14,NA18537,NA18564 esv32895 2 3713886 3727163 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97527 S 51 0 1 ALLC 21616 dgv1140e1 2 3740744 3773155 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv902,essv18054 M 271 0 0 "" NA06993 esv2185351 2 3750757 3751220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692255 S 1 0 1 "" NA18507 esv4379 2 3750770 3751217 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26820 S 1 0 1 Single Asian sample YH "" YH nsv821189 2 3750859 3751369 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420015 S 1 1 0 "" NA10851 nsv828175 2 3750859 3751369 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430403,nssv1427316 M 31 2 0 "" AK16,AK8 esv1568450 2 3750888 3751020 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366961 S 2 0 1 "" HuRef esv2482665 2 3799811 3801806 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226657 S 1 0 1 "" NA18507 nsv511763 2 3800556 3801533 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626411 S 1 0 1 "" 1 esv4544 2 3800564 3801547 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26985 S 1 0 1 Single Asian sample YH "" YH esv1340410 2 3800641 3801019 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343512 S 2 0 1 "" HuRef esv1348299 2 3801096 3801201 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044302 S 2 0 1 "" HuRef nsv214960 2 3801159 3801473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233538 M 24 "" esv1607144 2 3801271 3801376 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831597 S 2 0 1 "" HuRef esv2055557 2 3803301 3803765 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652057 S 1 0 1 "" NA18507 esv275260 2 3803342 3808478 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585645,essv2585117 M 1250 1 1 "" esv4287 2 3803361 3803820 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26728 S 1 0 1 Single Asian sample YH "" YH esv1008461 2 3803435 3803558 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571549 S 3 0 1 "" HuRef esv1753884 2 3803482 3803606 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788262 S 2 0 1 "" HuRef esv2607811 2 3811188 3812555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168893 S 1 0 1 "" NA18507 esv5118 2 3811749 3812238 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27559 S 1 0 1 Single Asian sample YH "" YH esv1004556 2 3811813 3812057 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581800 S 3 0 1 "" HuRef esv1775252 2 3811813 3812058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990534 S 2 0 1 "" HuRef nsv506993 2 3819085 3825085 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621986 S 4 1 0 "" NA10860 esv2777 2 3826007 3826542 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25218 S 1 0 1 Single Asian sample YH "" YH esv2163054 2 3862919 3863403 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001688 S 1 0 1 "" NA18507 nsv873596 2 3862929 3984284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577852 S 6533 0 1 LOC100505964 IS34599 esv27169 2 3955082 3956034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10749 S 451 0 1 "" NA12828 nsv873597 2 4090913 4616289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523935,nssv1535964,nssv1521470 M 6533 0 3 "" MS12564,SP52381,SP54286 esv23969 2 4117978 4119168 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19051 S 451 1 0 "" NA18517 nsv2576 2 4124907 4155068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5769 S 9 1 0 "" NA19129 dgv55n68 2 4127543 4357227 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv833259,nsv833270 M 95 2 0 "" nsv526821 2 4127943 4130803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703176 S 2026 0 1 "" nsv526056 2 4171931 4200019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702294 S 2026 0 1 "" esv26632 2 4182669 4201645 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16600 S 451 0 8 "" NA06985,NA11894,NA12006,NA12156,NA12239,NA12749,NA12776,NA12878 nsv2578 2 4189111 4205047 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4387,nssv6810 M 9 0 2 "" NA12156,NA12878 nsv498909 2 4190551 4201354 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585770 S 9 0 1 "" nsv9291 2 4191044 4205632 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26870 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 dgv440n27 2 4191253 4200019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469205,nsv469183,nsv469083,nsv469127,nsv469271,nsv469094,nsv469038,nsv469216,nsv469194,nsv469027,nsv469305,nsv469138,nsv469172,nsv469349,nsv469238,nsv469160,nsv469072,nsv469116,nsv469338,nsv469249,nsv469105,nsv469016,nsv468972,nsv469049,nsv469283,nsv469005,nsv469260,nsv468994,nsv469316,nsv469227,nsv468983,nsv469061,nsv469149,nsv469327,nsv469294 M 1557 0 35 "" 1780854038_A,1780854391_A,1780854419_A,1780854594_A,1780862040_A,1780862123_A,1780862437_A,1798860210_A,HGDP00045,HGDP00057,HGDP00326,HGDP00534,HGDP00583,HGDP00606,HGDP00613,HGDP00631,HGDP00653,HGDP00671,HGDP00674,HGDP00679,HGDP00680,HGDP00740,HGDP01064,HGDP01071,HGDP01152,HGDP01259,HGDP01362,HGDP01370,NINDS_165,NINDS_203,NINDS_216,NINDS_217,NINDS_26,NINDS_40,NINDS_46 nsv818933 2 4191253 4200019 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415612,nssv1417001,nssv1415561,nssv1418325,nssv1417002,nssv1418044,nssv1418043,nssv1416220,nssv1416126,nssv1416127,nssv1418344,nssv1418436,nssv1415611,nssv1416125 M 112 1 13 "" NA06985,NA06991,NA06993,NA06994,NA07029,NA10835,NA10859,NA11881,NA12057,NA12239,NA12248,NA12878,NA12891,NA12892 esv2421438 2 4191253 4201042 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064432,essv5068012,essv5047860,essv5149896,essv5122754,essv5049164,essv5129741,essv5072190,essv5027207,essv5090278,essv5158416,essv5085897,essv5108467,essv5038526,essv5158461,essv5121427,essv5007592,essv5073336,essv5063139,essv5015248,essv5071433,essv5130715,essv5047912,essv5044002,essv5041480,essv5054624,essv5118825,essv5155610,essv5012115,essv5083313,essv5119299,essv5015022,essv5099695,essv5118315,essv5054967,essv5146861,essv5008634,essv5076638,essv5089229,essv5069727,essv5070672,essv5058799,essv5102486,essv5068441,essv5059689,essv5008063,essv5085343,essv5103083,essv5114530,essv5136116,essv5033780,essv5061335,essv5036576,essv5009858,essv5149260,essv5049691,essv5143912,essv5041704,essv5054662,essv5160109,essv5145672,essv5070522,essv5075285,essv5111080,essv5137936,essv5145928,essv5090111,essv5109547,essv5065993,essv5156486,essv5080824,essv5017564,essv5151627,essv5148638,essv5145000,essv5100772,essv5136541,essv5121736,essv5119550,essv5083009,essv5014430,essv5110411,essv5051165,essv5099299,essv5046772,essv5046579,essv5072531,essv5013455,essv5072023,essv5065697,essv5021166,essv5139972,essv5049026,essv5063717,essv5116396,essv5018747,essv5061133,essv5061705,essv5116235,essv5079829,essv5086965,essv5064754,essv5143615,essv5059224,essv5021603,essv5130382,essv5151423,essv5063222,essv5092311,essv5066488,essv5141285,essv5084384,essv5020843,essv5063801,essv5097931,essv5129934,essv5116124,essv5063299,essv5076841,essv5028912,essv5078630,essv5121040,essv5084008,essv5108326,essv5131151,essv5048206,essv5142285,essv5113641,essv5011206,essv5151186,essv5137349,essv5058665 M 1184 0 132 "" NA06984,NA06985,NA06991,NA06993,NA06994,NA07022,NA07029,NA07055,NA07056,NA10831,NA10835,NA10839,NA10850,NA10852,NA10853,NA10856,NA10859,NA10864,NA11829,NA11831,NA11881,NA11892,NA11893,NA11894,NA11920,NA11994,NA12005,NA12006,NA12045,NA12057,NA12154,NA12155,NA12156,NA12239,NA12248,NA12273,NA12336,NA12340,NA12343,NA12375,NA12546,NA12707,NA12718,NA12739,NA12749,NA12750,NA12751,NA12766,NA12776,NA12815,NA12832,NA12842,NA12864,NA12873,NA12878,NA12892,NA18147,NA18562,NA18642,NA19657,NA19701,NA19716,NA19718,NA19720,NA19722,NA19749,NA19751,NA19756,NA19757,NA19760,NA19782,NA19784,NA19788,NA19789,NA19790,NA20502,NA20505,NA20508,NA20516,NA20519,NA20520,NA20521,NA20531,NA20543,NA20544,NA20581,NA20582,NA20586,NA20752,NA20759,NA20761,NA20765,NA20766,NA20770,NA20771,NA20772,NA20775,NA20800,NA20803,NA20805,NA20808,NA20809,NA20816,NA20818,NA20846,NA20847,NA20858,NA20870,NA20872,NA20875,NA20894,NA20903,NA21090,NA21123,NA21137,NA21141,NA21333,NA21391,NA21424,NA21425,NA21438,NA21439,NA21473,NA21488,NA21513,NA21520,NA21613,NA21631,NA21635,NA21636,NA21683,NA21784 nsv516551 2 4191253 4201943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671322,nssv657457,nssv677617,nssv692317,nssv682984,nssv655632,nssv677898,nssv692403,nssv669066,nssv658108,nssv668427,nssv681162,nssv685600,nssv660513,nssv670883,nssv680395,nssv655772,nssv688578,nssv666286,nssv651721,nssv684531,nssv686003,nssv693853,nssv693514,nssv652511,nssv654903,nssv674791,nssv684318,nssv653747,nssv678698,nssv667227,nssv663611,nssv655215,nssv688106,nssv687842,nssv676824,nssv676384,nssv660382,nssv665066,nssv688863,nssv679542,nssv689609,nssv682641,nssv688339,nssv654935,nssv655171,nssv660410,nssv675212,nssv682603,nssv683399,nssv686901,nssv678243,nssv675885,nssv676298,nssv657549,nssv691598,nssv673143,nssv690892,nssv668758,nssv683081,nssv660960,nssv659633,nssv665630,nssv662988,nssv676152,nssv671176,nssv684954,nssv673418,nssv653678,nssv653434,nssv660488,nssv668615,nssv663558,nssv678632,nssv686386,nssv659803,nssv686739,nssv671416,nssv676009,nssv690834,nssv668409,nssv688823,nssv693783,nssv679952,nssv680190,nssv681483,nssv688008,nssv685069,nssv656055,nssv682928,nssv652536,nssv690183,nssv660231,nssv681059,nssv677849,nssv653161,nssv661541,nssv686139,nssv681767,nssv652961,nssv652400,nssv664806,nssv691628,nssv693136,nssv674751,nssv689145,nssv663190,nssv677559,nssv690631,nssv686035,nssv653097,nssv674053,nssv689127,nssv683928,nssv674476,nssv667879,nssv665731,nssv652287,nssv658432,nssv668788,nssv653885,nssv691770,nssv659125,nssv671850,nssv680595,nssv677405,nssv681218,nssv667381,nssv684149,nssv672791,nssv671827,nssv673378,nssv656008,nssv679359,nssv656164,nssv673638,nssv666716,nssv682373,nssv666258,nssv656758,nssv672707,nssv679153,nssv690725,nssv688970,nssv652322,nssv654359,nssv683106,nssv676589,nssv685167,nssv655967,nssv658738 M 2026 0 151 "" nsv442648 2 4191739 4201042 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438170 2 4195411 4200019 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470086,nssv470075 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12248,NA12873 dgv1141e1 2 4214680 4254689 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1201,essv16558 M 271 0 0 "" NA19193 esv269668 2 4233996 4234181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546616,essv2536804,essv2548330,essv2547138,essv2529332,essv2561108 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11920,NA12045,NA12717,NA12749,NA18562 nsv873598 2 4250125 4285092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600969 S 6533 0 1 "" IS41955 dgv208n21 2 4268536 4279132 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517222,nsv526603 M 2026 0 74 "" nsv520707 2 4272264 4279132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694395 S 2026 0 1 "" esv2546884 2 4293413 4296637 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303581 S 1 0 1 "" NA18507 esv1238594 2 4294304 4294459 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883805 S 2 0 1 "" HuRef nsv517230 2 4471483 4473049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677055,nssv654074 M 2026 0 2 "" nsv512763 2 4477843 4477966 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625393 S 1 1 0 "" 1 nsv2579 2 4516850 4550472 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7459 S 9 1 0 "" NA12156 dgv209n21 2 4569916 4574936 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522724,nsv528306 M 2026 0 2 "" dgv4044n71 2 4574936 4628771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873599,nsv873602,nsv873604,nsv873601 M 6533 0 5 "" IS31046,IS35236,IS35788,IS36219,IS36981 dgv4045n71 2 4574936 4640531 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873600,nsv873603,nsv873605 M 6533 0 5 "" IS30562,IS35862,MS11237,MS11467,MS11669 nsv518172 2 4605600 4606854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695593 S 2026 0 1 "" esv2471528 2 4625651 4632925 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319867 S 1 0 1 "" NA18507 nsv512764 2 4626605 4627542 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625394 S 1 1 0 "" 1 esv2434794 2 4628999 4632552 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257383 S 1 0 1 "" NA18507 esv2297786 2 4629433 4632027 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507703 S 1 0 1 "" NA18507 esv2421561 2 4629667 4631497 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5140349,essv5019507,essv5065812,essv5034934,essv5097745,essv5008452,essv5045358,essv5146695,essv5010580,essv5036729,essv5081779,essv5031497,essv5155581,essv5015647,essv5062617,essv5111254,essv5005175,essv5005903,essv5156354,essv5092279,essv5109694,essv5081345,essv5156205,essv5106092,essv5155313,essv5037409,essv5038076,essv5016778,essv5005869,essv5068337,essv5006126,essv5107336,essv5123256,essv5061834,essv5046141,essv5053386,essv5041081,essv5095942 M 1184 0 38 "" NA18504,NA18507,NA18509,NA18519,NA18520,NA19036,NA19095,NA19097,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19149,NA19151,NA19171,NA19174,NA19207,NA19208,NA19224,NA19226,NA19377,NA19440,NA19449,NA19455,NA19713,NA19834,NA19900,NA19915,NA19983,NA20127,NA20317,NA20319,NA21360,NA21439,NA21447,NA21716 nsv214705 2 4707248 4712445 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233283 M 24 "" nsv2580 2 4738306 4786657 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6811,nssv5770,nssv10204,nssv4388,nssv2247,nssv1472 M 9 0 6 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv508708 2 4752738 4796715 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622804,nssv620176,nssv619025,nssv617453 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2568776 2 4758088 4765447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242548 S 1 0 1 "" NA18507 dgv58n16 2 4758225 4765743 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436298,nsv435710 M 2 0 2 "" NA15510,NA18505 esv2090715 2 4758961 4765432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696587 S 1 0 1 "" NA18507 nsv511764 2 4758991 4765457 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626412 S 1 0 1 "" 1 esv3799 2 4759154 4765295 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26240 S 1 0 1 Single Asian sample YH "" YH nsv498910 2 4759166 4765251 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585771 S 9 0 1 "" esv7142 2 4759176 4765215 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29583 S 1 0 1 "" SJK esv1008590 2 4759177 4765333 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565604 S 3 0 1 "" HuRef esv1285496 2 4759185 4765250 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915686 S 2 0 1 "" HuRef esv2632024 2 4780697 4782110 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330313 S 1 0 1 "" NA18507 nsv828186 2 4818472 4828243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427317 S 31 1 0 "" AK8 nsv469360 2 4826691 4871441 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544251 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00251 nsv818944 2 4859997 4863959 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417176 S 112 0 1 "" NA18550 nsv873606 2 4871441 4935064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567878 S 6533 0 1 "" IS31169 nsv9302 2 4884465 4888750 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28529 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 dgv1142e1 2 4886578 4902097 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20988,esv1269 M 271 0 0 "" NA10863 esv7434 2 5098589 5098643 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29875 S 1 1 0 "" SJK nsv873607 2 5099109 5184418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557756 S 6533 0 1 "" MS22858 nsv2585 2 5111176 5141688 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6813 S 9 0 1 "" NA12156 esv2456598 2 5126140 5127617 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194629 S 1 0 1 "" NA18507 esv2083049 2 5126448 5127164 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878295 S 1 0 1 "" NA18507 esv3133 2 5126572 5127066 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25574 S 1 0 1 Single Asian sample YH "" YH esv1595986 2 5126641 5126967 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945727 S 2 0 1 "" HuRef esv8523 2 5126643 5126952 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30964 S 1 0 1 "" SJK nsv469371 2 5156127 5174185 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544258 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 nsv528387 2 5157595 5159217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704976 S 2026 0 1 "" nsv873608 2 5167388 5183292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513797 S 6533 0 1 "" SP55847 esv991270 2 5242810 5247614 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563523 S 3 0 1 "" HuRef nsv213313 2 5253883 5263484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231891 M 24 "" nsv873609 2 5267362 5380736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557418 S 6533 0 1 "" MS22677 nsv508072 2 5281990 5287990 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618530,nssv624263,nssv622332,nssv621515 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv873610 2 5316172 5377941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556110 S 6533 0 1 "" MS21814 nsv215298 2 5335087 5336042 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233876 M 24 "" esv29202 2 5346110 5347578 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10551 S 451 6 0 "" NA07045,NA11931,NA12749,NA15510,NA18909,NA19225 nsv873611 2 5347640 5372930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503603 S 6533 1 0 "" SP52080 esv8945 2 5364881 5364960 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31386 S 1 1 0 "" SJK nsv469382 2 5366080 5417753 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544265 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00607 nsv470441 2 5367316 5417753 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547165 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00607 esv2534502 2 5404372 5405976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173057 S 1 0 1 "" NA18507 esv2083217 2 5405023 5405700 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545191 S 1 0 1 "" NA18507 esv4258 2 5405148 5405633 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26699 S 1 0 1 Single Asian sample YH "" YH esv1002742 2 5405220 5405486 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570709 S 3 0 1 "" HuRef nsv213443 2 5405220 5405486 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232021 M 24 "" esv8757 2 5405231 5405483 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31198 S 1 0 1 "" SJK dgv1143e1 2 5415120 5585805 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23683,esv111,essv3270,essv7567 M 271 0 0 "" NA10863,NA18545,NA18972 esv273877 2 5480307 5480663 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579286,essv2579523 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271076 2 5480329 5480661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576098,essv2540749,essv2546338,essv2526255,essv2544093,essv2548356,essv2554119,essv2544456,essv2553807,essv2530703,essv2562124,essv2528500,essv2523589,essv2538223,essv2542720,essv2540261,essv2524632,essv2534722,essv2539802,essv2549249,essv2519861,essv2559884,essv2522138,essv2566027,essv2530970,essv2532748,essv2567715,essv2528872,essv2541502,essv2570078,essv2563883,essv2535798,essv2572438,essv2559295,essv2556376,essv2534127,essv2578433,essv2533664,essv2567163,essv2522485,essv2573681,essv2543119,essv2576914,essv2572010,essv2525627,essv2526752,essv2526575,essv2533201,essv2554758,essv2524829 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07357,NA11830,NA11831,NA11881,NA11918,NA11992,NA12045,NA12287,NA12414,NA12763,NA12873,NA12874,NA12891,NA18537,NA18547,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18871,NA18916,NA18940,NA18944,NA18947,NA18960,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19114 esv996412 2 5532267 5532331 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577944 S 3 0 1 "" HuRef esv1491125 2 5532303 5532368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676612 S 2 0 1 "" HuRef nsv2586 2 5538897 5575345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1475,nssv4391,nssv3007 M 9 3 0 "" NA12878,NA18555,NA19240 nsv508812 2 5542117 5553828 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619893,nssv623858,nssv621160 M 4 3 0 "" NA10860,NA15510,NA18994 nsv873612 2 5542951 5606432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579757 S 6533 0 1 "" IS35179 nsv873613 2 5542951 5662380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556111 S 6533 0 1 "" MS21814 esv993993 2 5546142 5549255 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564242 S 3 1 0 "" HuRef esv9419 2 5567418 5567516 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31860 S 1 1 0 "" SJK nsv2587 2 5597203 5630772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1476 S 9 1 0 "" NA19240 nsv525574 2 5597990 5611308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701713 S 2026 0 1 "" nsv213255 2 5621753 5621833 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231833 M 24 "" esv23778 2 5653565 5654755 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10998 S 451 0 1 "" NA12287 dgv608n67 2 5704676 5789468 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828208,nsv828197 M 31 2 0 SOX11 NA18968,NA18973 nsv833292 2 5720952 5885572 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441777,nssv1441776,nssv1441775 M 95 1 2 SOX11 dgv609n67 2 5723457 5768378 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828219,nsv828230 M 31 2 0 SOX11 AK10,AK6 nsv520446 2 5727884 5736346 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686956,nssv671548,nssv672735,nssv672266 M 2026 0 4 "" nsv828241 2 5746728 5753110 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425566 S 31 1 0 SOX11 AK4 esv27383 2 5762701 5764172 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14919 S 451 3 2 "" NA06985,NA12156,NA12776,NA18505,NA19147 nsv520803 2 5780605 5782111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697621 S 2026 0 1 "" nsv2589 2 5791346 5825653 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4392 S 9 1 0 "" NA12878 esv2537591 2 5805456 5806869 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292537 S 1 0 1 "" NA18507 esv2121948 2 5805689 5806031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894094 S 1 0 1 "" NA18507 esv2281807 2 5805736 5806258 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582170 S 1 0 1 "" NA18507 nsv506994 2 5873441 5879441 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620709,nssv623326 M 4 2 0 "" NA15510,NA18994 nsv524347 2 5875999 5876996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700255 S 2026 0 1 "" nsv506995 2 5940359 5946359 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620710 S 4 1 0 "" NA15510 esv2537601 2 5980197 5981258 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237354 S 1 1 0 "" NA18507 esv1010737 2 5980719 5980719 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570686 S 3 1 0 "" HuRef nsv2590 2 6025290 6046570 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4649 S 9 0 1 LOC150622,LOC400940 NA19129 nsv506996 2 6056120 6062120 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623327 S 4 1 0 "" NA18994 nsv2591 2 6072160 6105871 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4393 S 9 1 0 "" NA12878 esv259453 2 6079717 6079990 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394081,essv2394258 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv833303 2 6106555 6134060 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441781,nssv1441778,nssv1441779,nssv1441780 M 95 0 4 "" esv260054 2 6124793 6125052 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400879,essv2398095,essv2399373,essv2400729,essv2396701,essv2395576,essv2399264,essv2395113,essv2395158 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11993,NA12144,NA12287,NA12717,NA12750,NA18501,NA18508,NA18550,NA19108 nsv2592 2 6208099 6254823 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1477 S 9 0 1 "" NA19240 nsv437275 2 6214696 6228331 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467156 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19120 nsv9325 2 6215270 6226219 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27512,nssv26874,nssv28024 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18504,NA19173,NA19240 dgv31n64 2 6215473 6224852 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818955,nsv818966 M 112 0 9 "" NA19093,NA19119,NA19120,NA19160,NA19161,NA19171,NA19173,NA19238,NA19240 nsv517145 2 6215473 6227468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682418,nssv659298,nssv653863,nssv690478,nssv683805,nssv692874,nssv688203,nssv682908,nssv684650,nssv688770,nssv691910,nssv656675,nssv654007,nssv686498,nssv668679,nssv664037,nssv692031,nssv686957,nssv672508,nssv675938,nssv687029,nssv675564,nssv652473,nssv679802,nssv679591,nssv679728,nssv677734,nssv678053,nssv659537,nssv671778,nssv669246,nssv667526,nssv691384,nssv661791,nssv665226,nssv685817,nssv662532,nssv689509,nssv680397,nssv660033,nssv665479,nssv690405,nssv656975,nssv685693,nssv689218,nssv664854,nssv682063,nssv685048,nssv658824,nssv662020,nssv679319,nssv666079,nssv674094,nssv660594,nssv652434,nssv686642,nssv671714 M 2026 0 57 "" dgv1144e1 2 6215502 6223235 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13212,essv13510,essv14223,essv11321 M 271 0 0 "" NA18913,NA18914,NA19120,NA19128 dgv1145e1 2 6215502 6239998 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13233,essv8402,essv14826,essv12090,essv12123,essv8886,esv1154,essv13957,essv7979,essv8079,essv7930,essv15182 M 271 0 0 "" NA18504,NA19093,NA19099,NA19119,NA19131,NA19160,NA19161,NA19171,NA19173,NA19209,NA19240 nsv498911 2 6215744 6226172 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585772 S 9 0 1 "" nsv442656 2 6215763 6225305 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421871 2 6215763 6225571 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5081823,essv5069226,essv5080853,essv5136617,essv5023653,essv5035585,essv5143854,essv5132461,essv5033737,essv5042027,essv5090741,essv5151803,essv5136326,essv5050657,essv5006997,essv5153409,essv5049816,essv5060337,essv5087615,essv5046038,essv5159390,essv5090989,essv5126273,essv5100304,essv5079923,essv5086995,essv5015209,essv5126246,essv5082739,essv5149884,essv5091344,essv5105945,essv5043687,essv5021590,essv5156287,essv5083440,essv5145994,essv5143209,essv5046612,essv5072583,essv5057067,essv5074730,essv5027535,essv5055520,essv5110644,essv5122899,essv5100903 M 1184 0 47 "" NA18503,NA18504,NA18873,NA18913,NA18914,NA18924,NA18925,NA19093,NA19099,NA19107,NA19109,NA19119,NA19120,NA19128,NA19131,NA19160,NA19161,NA19171,NA19173,NA19178,NA19209,NA19226,NA19235,NA19238,NA19240,NA19247,NA19256,NA19257,NA19258,NA19307,NA19314,NA19319,NA19321,NA19347,NA19359,NA19373,NA19394,NA19404,NA19428,NA19444,NA19456,NA19711,NA19819,NA19909,NA20345,NA21360,NA21479 esv23409 2 6215778 6226161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17763 S 451 0 4 "" NA18907,NA19099,NA19240,NA19257 nsv514050 2 6215987 6225221 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628136 S 1414 0 1 "" dgv1146e1 2 6217591 6228331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8553,essv12052 M 271 0 0 "" NA18503,NA19238 esv2387492 2 6241764 6242226 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890076 S 1 0 1 "" NA18507 nsv9336 2 6245953 6254712 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24882,nssv25159,nssv24286 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA18537 esv24670 2 6260158 6260634 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11791 S 451 6 0 "" NA12004,NA12749,NA12878,NA18505,NA18909,NA19225 nsv526387 2 6269313 6269394 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702685 S 2026 0 1 "" esv2587476 2 6295431 6296848 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228874 S 1 0 1 "" NA18507 nsv214974 2 6295693 6295948 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233552 M 24 "" esv997978 2 6295714 6296509 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586450 S 3 0 1 "" HuRef nsv214973 2 6296240 6296495 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233551 M 24 "" esv1658389 2 6296345 6296473 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159163 S 2 0 1 "" HuRef nsv470442 2 6303844 6357821 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547166 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00599 esv1082197 2 6310910 6311098 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598285 S 2 0 1 "" HuRef nsv819447 2 6317542 6319438 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419355 S 2 1 0 "" AK1 dgv610n67 2 6317759 6319604 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828253,nsv828275,nsv828286,nsv828264 M 31 0 18 "" AK10,AK12,AK16,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18547,NA18564,NA18582,NA18942,NA18951,NA18969,NA18972,NA18973,NA18997 nsv821157 2 6317759 6319604 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420026 S 1 0 1 "" NA10851 nsv213376 2 6317960 6319644 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231954 M 24 "" esv8485 2 6317964 6319647 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30926 S 1 0 1 "" SJK esv21591 2 6317978 6319604 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18456 S 451 31 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv214828 2 6318171 6318406 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233406 M 24 "" esv1004893 2 6318283 6318406 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569026 S 3 0 1 "" HuRef esv1222063 2 6318344 6318468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126041 S 2 0 1 "" HuRef esv2470713 2 6340968 6341049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265478 S 1 0 1 "" NA18507 esv2523160 2 6434306 6435259 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288761 S 1 1 0 "" NA18507 esv271897 2 6434846 6434931 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514857,essv2516580,essv2518958,essv2518347 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12814,NA19141,NA19240 esv273736 2 6434846 6434931 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581079 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv527932 2 6441445 6441958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704440 S 2026 0 1 "" nsv2593 2 6521629 6566745 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7461 S 9 0 1 "" NA12156 esv1114520 2 6531466 6531524 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148912 S 2 0 1 "" HuRef nsv214519 2 6536220 6539739 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233097 M 24 "" esv275246 2 6567949 6568536 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586030 S 1250 0 1 "" nsv2594 2 6574617 6608334 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4394 S 9 1 0 "" NA12878 esv1922316 2 6577804 6578251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958346 S 1 0 1 "" NA18507 nsv2595 2 6610575 6663502 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9563 S 9 0 1 "" NA18507 nsv833315 2 6610609 6795750 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441782 S 95 1 0 LINC00487 nsv525741 2 6611970 6624838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701907 S 2026 0 1 "" esv29382 2 6713153 6722846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20032 S 451 0 1 "" NA06985 nsv506997 2 6713862 6719862 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621987 S 4 1 0 "" NA10860 esv991908 2 6715655 6715789 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563789 S 3 1 0 "" HuRef esv267828 2 6715693 6717903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511052,essv2495460,essv2504405,essv2507950,essv2502906,essv2503430,essv2503785,essv2493278,essv2496336,essv2497137,essv2501550,essv2509169,essv2502398,essv2493075,essv2504794,essv2510909,essv2498846,essv2497109,essv2499841,essv2501781,essv2498187,essv2503588,essv2503956,essv2511586,essv2504354 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA11831,NA11919,NA11993,NA12003,NA12156,NA12716,NA12761,NA18504,NA18510,NA18552,NA18608,NA18909,NA18948,NA18951,NA19099,NA19116,NA19138,NA19190,NA19225,NA19239,NA19240 esv272186 2 6715701 6717904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580553 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv833326 2 6902478 7060015 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441783 S 95 0 1 CMPK2,LOC386597,RNF144A,RSAD2 nsv2596 2 6932484 6941207 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6814 S 9 1 0 RSAD2 NA12156 esv272135 2 6968024 6968202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510194,essv2510124,essv2511046,essv2496652,essv2511403,essv2512245,essv2495357,essv2503802,essv2505001,essv2497422,essv2501237,essv2504845,essv2495751,essv2513027 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA10851,NA11829,NA11831,NA11894,NA11920,NA12155,NA12287,NA12761,NA12828,NA18959,NA19093,NA19099 esv1599993 2 6968054 6968054 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741409 S 2 1 0 "" HuRef esv24593 2 6973840 6975666 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12362 S 451 0 1 LOC386597,RNF144A NA07045 nsv2597 2 6986868 7018416 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4395 S 9 1 0 RNF144A NA12878 esv1768137 2 6993239 6993302 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889186 S 2 0 1 RNF144A HuRef nsv508073 2 6993984 6999984 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618531 S 4 0 1 RNF144A CHM nsv2598 2 7006188 7050866 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7462 S 9 0 1 RNF144A NA12156 nsv526590 2 7083958 7085040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702908 S 2026 0 1 RNF144A nsv469394 2 7114650 7148439 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544270 S 1557 0 1 "" NINDS_173 dgv56n17 2 7146621 7163838 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437276,nsv437277 M 60 0 2 "" NA18857,NA19129 esv26595 2 7147487 7153166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15834 S 451 0 2 "" NA19114,NA19129 esv2421692 2 7148439 7151927 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022911,essv5097318,essv5139944,essv5089719,essv5137129,essv5150973,essv5081850,essv5105537,essv5054922,essv5039873,essv5127499,essv5044438,essv5103902,essv5005052,essv5026167,essv5084923,essv5081822,essv5110163,essv5090238,essv5120341,essv5159943,essv5048990,essv5024513,essv5091482,essv5012912,essv5080311,essv5131963,essv5079888,essv5057027,essv5076469,essv5115650,essv5034173,essv5023900,essv5122414,essv5095088,essv5101837,essv5080436,essv5074932,essv5060476,essv5022325,essv5123495,essv5125144,essv5010761,essv5062757,essv5009927,essv5126769,essv5026012,essv5044265,essv5080320,essv5009227,essv5071667,essv5142463,essv5037761,essv5084118 M 1184 0 54 "" NA18510,NA18855,NA18857,NA18862,NA18917,NA18930,NA19114,NA19128,NA19129,NA19152,NA19171,NA19184,NA19198,NA19226,NA19316,NA19318,NA19321,NA19347,NA19359,NA19373,NA19379,NA19384,NA19385,NA19391,NA19393,NA19399,NA19429,NA19439,NA19451,NA19457,NA19473,NA19625,NA19700,NA19713,NA19834,NA19836,NA19983,NA20282,NA20301,NA20348,NA20356,NA21360,NA21363,NA21370,NA21403,NA21404,NA21522,NA21528,NA21574,NA21575,NA21578,NA21716,NA21719,NA21776 esv9061 2 7214131 7214229 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31502 S 1 1 0 "" SJK nsv833337 2 7254724 7438597 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441784 S 95 0 1 "" nsv506998 2 7328235 7334235 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620711,nssv623328,nssv617555 M 4 3 0 "" CHM,NA15510,NA18994 esv1010624 2 7543892 7548882 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564902 S 3 1 0 "" HuRef esv2632696 2 7545590 7547197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276893 S 1 0 1 "" NA18507 esv1768352 2 7546230 7546636 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987518 S 2 0 1 "" HuRef esv1339209 2 7546670 7546861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3919444 S 2 0 1 "" HuRef esv5557 2 7577646 7577852 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27998 S 1 0 1 "" SJK nsv512765 2 7651228 7651924 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625395 S 1 1 0 "" 1 esv1513718 2 7651489 7651489 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665048 S 2 1 0 "" HuRef esv1583825 2 7651499 7651499 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078315 S 2 1 0 "" HuRef esv1686979 2 7651618 7651618 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016261 S 2 1 0 "" HuRef esv27780 2 7671245 7672875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18310,esv12599 M 451 0 13 "" NA11894,NA12414,NA12489,NA12776,NA18508,NA18511,NA18523,NA18858,NA19108,NA19129,NA19147,NA19225,NA19240 esv273513 2 7846821 7847228 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580100,essv2580348 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2422245 2 7925294 8474950 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161351 S 181 1 0 LINC00299,LOC339788 ND01702 esv999584 2 7960915 7960915 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573355 S 3 1 0 "" HuRef esv1028311 2 7961014 7961014 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886627 S 2 1 0 "" HuRef esv34005 2 8010767 8059641 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC339788 esv994815 2 8034519 8034519 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577577 S 3 1 0 "" HuRef nsv516711 2 8097640 8098076 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691354,nssv670317 M 2026 0 2 LINC00299 nsv833348 2 8123122 8332993 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441786 S 95 1 0 LINC00299 esv2358828 2 8455878 8456178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551265 S 1 0 1 "" NA18507 nsv213459 2 8455968 8456059 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232037 M 24 "" nsv525002 2 8522554 8548532 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701035 S 2026 1 0 "" esv2554175 2 8533708 8535189 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170558 S 1 0 1 "" NA18507 esv2250643 2 8534057 8534765 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521131 S 1 0 1 "" NA18507 esv4909 2 8534206 8534622 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27350 S 1 0 1 Single Asian sample YH "" YH esv1009691 2 8534251 8534557 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585801 S 3 0 1 "" HuRef esv2521998 2 8534253 8534559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309444 S 1 0 1 "" NA18507 esv1318435 2 8534264 8534571 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762689 S 2 0 1 "" HuRef esv9299 2 8534275 8534528 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31740 S 1 0 1 "" SJK esv27784 2 8604297 8605462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13913 S 451 0 1 "" NA19108 nsv873614 2 8623322 8760874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585798 S 6533 0 1 ID2 IS37646 esv275380 2 8635517 8636057 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585663 S 1250 0 1 "" esv991725 2 8645637 8645637 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574044 S 3 1 0 "" HuRef nsv214528 2 8645742 8645742 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233106 M 24 "" esv24483 2 8666810 8667636 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13303 S 451 0 1 "" NA15510 nsv873615 2 8718258 8749865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509770 S 6533 0 1 ID2 SP54956 nsv873616 2 8728805 8749865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508269 S 6533 0 1 ID2 SP54725 esv267394 2 8773208 8773561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512593,essv2509771,essv2496359,essv2494851,essv2509015,essv2507009,essv2510897,essv2502201 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18508,NA18510,NA18519,NA18522,NA19102,NA19116,NA19257 esv2585545 2 8817946 8819366 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328261 S 1 0 1 KIDINS220 NA18507 nsv833359 2 8867775 9048252 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441787 S 95 0 1 KIDINS220,MBOAT2 nsv521067 2 8895221 8896127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697766 S 2026 0 1 "" nsv517367 2 8910956 9103967 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701848,nssv670784,nssv684131,nssv656894,nssv688027,nssv672553,nssv651825 M 2026 7 0 MBOAT2 nsv2600 2 8944335 8978506 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3008 S 9 1 0 MBOAT2 NA18555 nsv873617 2 9075613 9202976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598355 S 6533 0 1 "" IS40902 esv270555 2 9102853 9102938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519101 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv521113 2 9145966 9154641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697794 S 2026 0 1 "" esv1009102 2 9170934 9170934 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581397 S 3 1 0 "" HuRef nsv517184 2 9202976 9207775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653956,nssv686388 M 2026 0 2 "" esv25422 2 9264015 9264541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11555 S 451 0 1 ASAP2 NA12489 esv272973 2 9355412 9355742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579911,essv2578992,essv2579561 M 7 3 0 Samples from several populations that are part of the HapMap project. ASAP2 NA12892,NA19239,NA19240 esv29614 2 9362028 9363868 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13936 S 451 1 0 ASAP2 NA12776 nsv2601 2 9399745 9433131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4396 S 9 1 0 ASAP2 NA12878 esv2604725 2 9457553 9458255 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181687 S 1 1 0 ASAP2 NA18507 esv2478125 2 9463117 9464696 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367375 S 1 0 1 ASAP2,ITGB1BP1 NA18507 esv998356 2 9463545 9464080 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586766 S 3 0 1 ITGB1BP1 HuRef esv28515 2 9463600 9464235 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10008 S 451 4 7 ITGB1BP1 NA07045,NA11995,NA12156,NA12489,NA12749,NA18523,NA18861,NA19108,NA19114,NA19129,NA19225 nsv2602 2 9466397 9511115 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7463 S 9 0 1 CPSF3,ITGB1BP1 NA12156 nsv514992 2 9482062 9483251 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628466 S 1414 0 0 CPSF3 nsv214045 2 9651490 9660442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232623 M 24 YWHAQ nsv518363 2 9694680 9705766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695790 S 2026 0 1 "" nsv527083 2 9715445 9728099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703462 S 2026 0 1 "" nsv469405 2 9731825 9882398 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544272 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00573 nsv470443 2 9774469 9893008 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547167,nssv547169 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00573,HGDP01319 esv29609 2 9781602 9782867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21309 S 451 0 1 "" NA19108 nsv873618 2 9788082 9837210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539707 S 6533 1 0 "" MS14454 nsv873619 2 9788082 9874432 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588665 S 6533 1 0 "" IS38231 nsv508823 2 9792437 9882580 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619894,nssv623859 M 4 2 0 "" NA10860,NA18994 nsv2603 2 9792981 9800103 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6815 S 9 1 0 "" NA12156 esv2531717 2 9794728 9795686 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200647 S 1 1 0 "" NA18507 esv992075 2 9795042 9795050 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565592 S 3 1 0 "" HuRef esv1346082 2 9797683 9797683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242078 S 2 1 0 "" HuRef esv2643661 2 9805650 9806661 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229755 S 1 1 0 "" NA18507 esv269567 2 9806222 9806569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558124,essv2565878,essv2540803,essv2546254,essv2521417,essv2526085,essv2542259,essv2536495,essv2522986,essv2543837,essv2570966,essv2556561,essv2568395,essv2545638,essv2523305,essv2531754,essv2577581,essv2570580,essv2548307,essv2521479,essv2576762,essv2550542,essv2525499,essv2534968,essv2544555,essv2552146,essv2520480,essv2547188,essv2529173,essv2558490,essv2564372,essv2577825,essv2553876,essv2559655,essv2555067,essv2530542,essv2561944,essv2537250,essv2546824,essv2540113,essv2520858,essv2552582,essv2551830,essv2532105,essv2562645,essv2578708,essv2536931,essv2539189,essv2561337,essv2523523,essv2541344,essv2524635,essv2564798,essv2534661,essv2559997,essv2566333,essv2531259,essv2532701,essv2567759,essv2541711,essv2563582,essv2535822,essv2559341,essv2542158,essv2551084,essv2569024,essv2527864,essv2562506,essv2533835,essv2578323,essv2555405,essv2555715,essv2567100,essv2566528,essv2574030,essv2527661,essv2534481,essv2522421,essv2543035,essv2576928,essv2571991,essv2529460,essv2575732,essv2575335,essv2526531,essv2574617,essv2568666,essv2560225,essv2549911,essv2546053,essv2574152,essv2551260,essv2535957,essv2537787,essv2548815,essv2533356,essv2554378,essv2547796,essv2524855,essv2563462 M 157 100 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12872,NA12873,NA12874,NA12878,NA12892,NA18489,NA18498,NA18502,NA18504,NA18505,NA18507,NA18510,NA18517,NA18519,NA18523,NA18537,NA18545,NA18555,NA18558,NA18561,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18603,NA18608,NA18638,NA18856,NA18858,NA18861,NA18907,NA18909,NA18916,NA18940,NA18943,NA18945,NA18947,NA18948,NA18951,NA18952,NA18959,NA18960,NA18965,NA18970,NA18973,NA19093,NA19099,NA19102,NA19114,NA19138,NA19147,NA19190,NA19225,NA19239,NA19240,NA19257 esv274046 2 9806223 9806561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581833,essv2582898,essv2584549,essv2583535 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv1750793 2 9806252 9806252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798397 S 2 1 0 "" HuRef nsv518227 2 9810905 9826565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695654 S 2026 0 1 "" nsv873620 2 9823596 9869421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546481 S 6533 0 1 "" MS17208 nsv524327 2 9830966 9872219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700233 S 2026 0 1 "" esv2545696 2 9834352 9834879 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243112 S 1 1 0 "" NA18507 esv1116760 2 9834550 9834550 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967081 S 2 1 0 "" HuRef nsv873621 2 9841838 9872049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530446 S 6533 0 1 "" MS10311 esv2567095 2 9842003 9846814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210273 S 1 0 1 "" NA18507 esv2640411 2 9842255 9847539 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321731 S 1 0 1 "" NA18507 esv2135511 2 9842753 9846701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928740 S 1 0 1 "" NA18507 esv24165 2 9842985 9846510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10568 S 451 0 18 "" NA06985,NA12004,NA12489,NA12828,NA18502,NA18511,NA18517,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv514051 2 9843065 9846538 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628147 S 1414 0 1 "" nsv2604 2 9846549 9859924 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4397 S 9 1 0 "" NA12878 nsv517701 2 9851407 9872219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652900,nssv654701,nssv688028,nssv656213 M 2026 0 4 "" nsv528645 2 9863664 9893008 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705277 S 2026 1 0 "" dgv4046n71 2 9865855 9893008 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873622,nsv873625,nsv873626 M 6533 5 0 "" MS13712,MS18453,MS24447,SP55611,SP80928 nsv873623 2 9866915 9882398 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508633 S 6533 1 0 "" SP54673 nsv873624 2 9866915 9888817 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547746,nssv1562952,nssv1547263,nssv1569653,nssv1588174,nssv1539762,nssv1540741,nssv1539520,nssv1531528,nssv1540582,nssv1591295,nssv1543148,nssv1536556,nssv1539360 M 6533 12 2 "" IS31656,IS38176,IS38670,MS10517,MS12827,MS14309,MS14354,MS14493,MS14920,MS15008,MS16060,MS17275,MS17534,MS25789 dgv441n27 2 9866915 9893008 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv469416,nsv469427 M 1557 2 0 "" 1780862014_A,HGDP01319 dgv4047n71 2 9866915 9903121 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873627,nsv873628 M 6533 28 0 TAF1B MS10400,MS10574,MS11481,MS11632,MS12261,MS12493,MS12506,MS13721,MS14837,MS14872,MS15545,MS15749,MS16126,MS16268,MS16643,MS17705,MS20302,MS21820,MS22114,MS22252,MS24001,MS24550,MS25101,SP50076,SP53509,SP54099,SP57472,SP81160 dgv4048n71 2 9866915 9947475 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873630,nsv873629 M 6533 2 0 TAF1B MS10311,MS14454 esv4891 2 9876630 9877117 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27332 S 1 0 1 Single Asian sample YH "" YH esv7018 2 9876677 9876997 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29459 S 1 0 1 "" SJK nsv873631 2 9893008 9977221 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574053 S 6533 0 1 TAF1B IS33507 nsv873632 2 9918429 9962465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503102 S 6533 0 1 TAF1B SP51486 nsv828297 2 10026750 10153783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434917 S 31 0 1 CYS1,GRHL1,KLF11 NA18942 nsv213438 2 10056029 10056029 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232016 M 24 GRHL1 esv1497328 2 10056209 10056209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126601 S 2 1 0 GRHL1 HuRef nsv508826 2 10060174 10108436 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619895 S 4 1 0 KLF11 NA10860 esv24175 2 10068005 10075137 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20389 S 451 0 4 "" NA11995,NA18505,NA18517,NA19240 nsv820666 2 10068005 10075137 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420037 S 1 1 0 "" NA10851 esv2067673 2 10069116 10069500 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613632 S 1 0 1 "" NA18507 esv2298743 2 10069355 10069777 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528365 S 1 0 1 "" NA18507 esv1277665 2 10072867 10072867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998015 S 2 1 0 "" HuRef nsv873633 2 10092893 10184014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585799 S 6533 0 1 CYS1,KLF11,RRM2 IS37646 nsv828308 2 10092976 10117779 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436404 S 31 1 0 CYS1,KLF11 NA18542 esv996512 2 10134767 10138539 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564402 S 3 0 1 CYS1 HuRef dgv4049n71 2 10193265 10261916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873634,nsv873635 M 6533 0 2 C2orf48,MIR4261 IS40799,MS17208 nsv873636 2 10217841 10249370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502487 S 6533 0 1 C2orf48 SP51216 nsv818977 2 10251218 10310489 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416538,nssv1416527 M 112 2 0 C2orf48 NA10857,NA12043 esv2176584 2 10257906 10258357 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4679540 S 1 0 1 C2orf48 NA18507 dgv146e55 2 10258919 10301753 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34981,esv35171 M 771 2 0 C2orf48 NA10857,NA12043 dgv1147e1 2 10264593 10324157 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1163,essv23114 M 271 0 0 C2orf48 NA12043 dgv4050n71 2 10267309 10298885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873637,nsv873638 M 6533 0 2 C2orf48 MS10311,MS16153 nsv9347 2 10284938 10287372 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27408 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv873639 2 10289512 10392759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585800 S 6533 0 1 HPCAL1 IS37646 esv4566 2 10291249 10291707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27007 S 1 0 1 Single Asian sample YH "" YH nsv873640 2 10302548 10339793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537050 S 6533 0 1 "" MS13095 nsv527868 2 10311533 10313395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704367 S 2026 0 1 "" esv1468618 2 10348956 10349094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921059 S 2 0 1 "" HuRef esv1495796 2 10349153 10349153 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804543 S 2 1 0 "" HuRef esv23590 2 10350956 10356634 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19004 S 451 0 1 "" NA12776 esv27364 2 10359922 10361250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10180 S 451 0 1 HPCAL1 NA07045 nsv873641 2 10397866 10462091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530448 S 6533 0 1 HPCAL1 MS10311 nsv873642 2 10409436 10450320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543375 S 6533 0 1 HPCAL1 MS16153 nsv508827 2 10409774 10484033 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619896 S 4 1 0 HPCAL1 NA10860 nsv2605 2 10438980 10461071 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4398 S 9 1 0 HPCAL1 NA12878 dgv4051n71 2 10452932 10500611 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873643,nsv873644 M 6533 0 2 HPCAL1,ODC1 IS39233,MS17208 dgv4052n71 2 10454798 10529542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873646,nsv873645 M 6533 0 4 HPCAL1,ODC1,SNORA80B IS33504,IS34235,IS35484,IS37646 esv1007136 2 10456196 10457354 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565116 S 3 1 0 HPCAL1 HuRef esv1409580 2 10487070 10487142 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080105 S 2 0 1 "" HuRef nsv873647 2 10493875 10515309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509771 S 6533 0 1 ODC1,SNORA80B SP54956 dgv4053n71 2 10502090 10516944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873648,nsv873651,nsv873650 M 6533 0 7 ODC1,SNORA80B SP51109,SP54043,SP54591,SP54937,SP54988,SP55021,SP57469 nsv873649 2 10502909 10509079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507745 S 6533 0 1 ODC1,SNORA80B SP54725 esv23515 2 10505303 10506458 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20256 S 451 0 1 ODC1 NA07045 dgv1148e1 2 10513029 10606420 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4326,esv1093 M 271 0 0 "" NA18564 nsv833370 2 10542600 10702853 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441788 S 95 1 0 NOL10 dgv4054n71 2 10545311 10606420 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873653,nsv873652 M 6533 5 0 "" SP53036,SP57009,SP57297,SP57873,SP81181 esv2286752 2 10545421 10545826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874951 S 1 0 1 "" NA18507 nsv9358 2 10547772 10604272 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27930 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 nsv828319 2 10547879 10596479 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440188 S 31 1 0 "" NA18564 nsv873654 2 10572592 10615815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530449 S 6533 0 1 "" MS10311 dgv4055n71 2 10573735 10606420 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873656,nsv873659,nsv873655,nsv873660 M 6533 6 0 "" MS18552,MS25696,SP52331,SP56833,SP58325,SP81068 esv2296958 2 10575582 10576044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519037 S 1 0 1 "" NA18507 nsv873657 2 10579817 10599696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572112 S 6533 0 1 "" IS32888 nsv873658 2 10581932 10601842 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512274 S 6533 1 0 "" SP55382 nsv873661 2 10593000 10620927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561974 S 6533 0 1 "" MS25305 nsv512766 2 10593531 10594329 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625396 S 1 1 0 "" 1 esv2215054 2 10593621 10594201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766068 S 1 0 1 "" NA18507 esv23378 2 10593747 10594425 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17533 S 451 1 0 "" NA18916 esv1074511 2 10593759 10593759 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181271 S 2 1 0 "" HuRef esv1418406 2 10594019 10594019 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344864 S 2 1 0 "" HuRef nsv519963 2 10601842 10606420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684693,nssv680797,nssv659716 M 2026 0 3 "" nsv525241 2 10601842 10620927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701331 S 2026 0 1 "" nsv522123 2 10614034 10623090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694896 S 2026 0 1 "" nsv828330 2 10619969 10623805 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433486 S 31 0 1 "" NA18526 nsv441747 2 10619971 10622306 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv828341 2 10630357 10631259 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434234 S 31 0 1 NOL10 NA18570 nsv833381 2 10640916 10828735 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441789 S 95 0 1 ATP6V1C2,NOL10 nsv828352 2 10730045 10730714 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434235 S 31 1 0 NOL10 NA18570 nsv828365 2 10801997 10811556 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423186 S 31 1 0 ATP6V1C2 NA18999 dgv210n21 2 10803549 10807239 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526794,nsv525276 M 2026 2 0 ATP6V1C2 nsv508074 2 10843353 10849353 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618532,nssv622333 M 4 0 2 PDIA6 CHM,NA10860 nsv524969 2 10887015 10888468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700994 S 2026 0 1 "" nsv818988 2 10907649 10927061 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416300 S 112 1 0 "" NA18855 nsv438181 2 10938444 10939406 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470108,nssv470097 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07000,NA12813 nsv520545 2 10948999 10949239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697478 S 2026 0 1 "" nsv873662 2 10952881 10978607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510658 S 6533 0 1 KCNF1 SP54988 nsv521177 2 10957597 10984150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697828 S 2026 0 1 KCNF1 nsv833392 2 10972031 11152690 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441790 S 95 1 0 "" nsv817618 2 10972749 10993205 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416301 S 112 1 0 "" NA18855 nsv469438 2 10972749 11003195 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544302 S 1557 0 1 "" NINDS_54 nsv523537 2 10978607 10992768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699313 S 2026 0 1 "" esv990890 2 11034767 11041559 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565463 S 3 0 1 "" HuRef nsv2606 2 11093167 11122226 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6816 S 9 1 0 "" NA12156 nsv516163 2 11117422 11122872 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683649,nssv678476,nssv688263,nssv685373,nssv661840,nssv688223,nssv675089,nssv682752,nssv660032,nssv674682,nssv669277,nssv662324,nssv658496,nssv692938,nssv664552,nssv652930,nssv675310,nssv667574,nssv667380,nssv684599,nssv657662,nssv665588,nssv674748,nssv661169,nssv672178,nssv664082,nssv652176,nssv661296,nssv682132,nssv651885,nssv658974,nssv685665,nssv692754,nssv674563,nssv674635,nssv656041,nssv692970,nssv677731,nssv692002,nssv654918,nssv666254,nssv678434,nssv684715,nssv665612,nssv673827,nssv666102,nssv668313,nssv653338,nssv654757,nssv655262,nssv668511,nssv681833,nssv676745,nssv668729,nssv655118,nssv686766,nssv682656,nssv675443,nssv667286,nssv697839,nssv682703,nssv688660,nssv662079,nssv669013,nssv691983,nssv677770,nssv671055,nssv653504,nssv691751,nssv683078,nssv656887,nssv689123,nssv680708,nssv665271,nssv688338,nssv659426,nssv692804,nssv680837,nssv665902,nssv669935,nssv684529,nssv684733,nssv669802,nssv678988,nssv661516,nssv664917,nssv672214,nssv664824,nssv652575,nssv678598,nssv659358,nssv690287,nssv676688,nssv679227,nssv671124,nssv661442,nssv675525,nssv685514,nssv669558,nssv670003,nssv677921,nssv657690,nssv683189,nssv665208,nssv651822,nssv675002,nssv670716,nssv657814,nssv652246,nssv662904,nssv663442,nssv684573,nssv678300,nssv657241,nssv679470,nssv679621,nssv669432,nssv678753,nssv692449,nssv663649,nssv683282 M 2026 115 6 "" dgv211n21 2 11122105 11125745 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519160,nsv527179 M 2026 2 0 "" esv2635128 2 11148111 11149992 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385566 S 1 0 1 "" NA18507 esv1301513 2 11148396 11148396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137051 S 2 1 0 "" HuRef esv1200095 2 11148549 11148549 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856365 S 2 1 0 "" HuRef esv1674307 2 11149236 11149390 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746830 S 2 0 1 "" HuRef esv1444028 2 11149640 11149714 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131674 S 2 0 1 "" HuRef esv1118036 2 11170503 11170503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008454 S 2 1 0 FLJ33534 HuRef esv3945 2 11170938 11171435 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26386 S 1 0 1 Single Asian sample YH FLJ33534 YH nsv520789 2 11176518 11229675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679228,nssv675444,nssv680709,nssv685641 M 2026 0 4 C2orf50,FLJ33534,PQLC3 esv2592438 2 11270659 11271753 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204641 S 1 1 0 ROCK2 NA18507 esv267549 2 11271117 11271456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558128,essv2565833,essv2571584,essv2546199,essv2521247,essv2556591,essv2568093,essv2545696,essv2531919,essv2577309,essv2570717,essv2548370,essv2521535,essv2576683,essv2550712,essv2525422,essv2550399,essv2554283,essv2544369,essv2547301,essv2529086,essv2564526,essv2577773,essv2553574,essv2559654,essv2565329,essv2576292,essv2520072,essv2561845,essv2537529,essv2528599,essv2520877,essv2557162,essv2552347,essv2532263,essv2569604,essv2536849,essv2544971,essv2523687,essv2541292,essv2538209,essv2542808,essv2524564,essv2564929,essv2534619,essv2539708,essv2549247,essv2566144,essv2530930,essv2532516,essv2567911,essv2567364,essv2541816,essv2563748,essv2553510,essv2572498,essv2541988,essv2551183,essv2562154,essv2534173,essv2573131,essv2533722,essv2566577,essv2529964,essv2573797,essv2557604,essv2534362,essv2522333,essv2543230,essv2573301,essv2571865,essv2529456,essv2575742,essv2538491,essv2574745,essv2560460,essv2535994,essv2537954,essv2554574,essv2547876,essv2525188 M 157 81 0 Samples from several populations that are part of the HapMap project. ROCK2 NA06986,NA07000,NA07346,NA07347,NA07357,NA10851,NA11829,NA11840,NA11881,NA11894,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12287,NA12414,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12874,NA12878,NA12891,NA18498,NA18501,NA18502,NA18505,NA18508,NA18517,NA18526,NA18537,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18603,NA18605,NA18609,NA18856,NA18858,NA18909,NA18916,NA18942,NA18944,NA18948,NA18949,NA18951,NA18953,NA18959,NA18960,NA18965,NA18969,NA18973,NA19093,NA19099,NA19108,NA19138,NA19190 esv272377 2 11271119 11271458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582219,essv2582532 M 7 2 0 Samples from several populations that are part of the HapMap project. ROCK2 NA12878,NA12891 nsv526038 2 11286529 11406982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702270 S 2026 0 1 ROCK2 nsv2607 2 11298792 11327383 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5775 S 9 0 1 ROCK2 NA19129 nsv436304 2 11312440 11318844 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465888 S 2 0 1 Samples from several populations that are part of the HapMap project. ROCK2 NA18505 esv25473 2 11312481 11318071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16727 S 451 0 3 ROCK2 NA18505,NA19129,NA19257 nsv498912 2 11312639 11317881 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585773 S 9 0 1 ROCK2 nsv514052 2 11312817 11317741 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628158 S 1414 0 1 ROCK2 esv2543558 2 11343215 11344377 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213522 S 1 1 0 ROCK2 NA18507 esv271091 2 11343789 11344127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519215,essv2517034,essv2514121,essv2514856,essv2518503,essv2515006,essv2516573,essv2515662,essv2517919,essv2514373,essv2517687,essv2515810,essv2519120,essv2513761,essv2519387,essv2513629 M 157 16 0 Samples from several populations that are part of the HapMap project. ROCK2 NA07346,NA07347,NA11894,NA11931,NA12043,NA12234,NA12287,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA18969,NA19141,NA19143 esv272435 2 11343789 11344127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581323 S 7 1 0 Samples from several populations that are part of the HapMap project. ROCK2 NA12878 esv1339412 2 11343826 11343826 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806677 S 2 1 0 ROCK2 HuRef esv2453181 2 11387860 11388924 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250959 S 1 1 0 ROCK2 NA18507 esv26478 2 11421261 11421896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18702 S 451 0 1 "" NA11993 esv2026877 2 11437839 11438487 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890394 S 1 0 1 "" NA18507 esv27377 2 11502937 11504172 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13573 S 451 2 0 E2F6 NA06985,NA19147 nsv873663 2 11581800 11701226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546484 S 6533 0 1 GREB1,MIR4429 MS17208 esv1008112 2 11675776 11675776 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572471 S 3 1 0 GREB1 HuRef esv1626684 2 11675824 11675824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095499 S 2 1 0 GREB1 HuRef esv1172824 2 11694607 11694607 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226192 S 2 1 0 GREB1 HuRef esv1662162 2 11694622 11694622 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701329 S 2 1 0 GREB1 HuRef esv1097706 2 11694652 11694652 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329064 S 2 1 0 GREB1 HuRef nsv469449 2 11726105 11771463 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv544313 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NTSR2 HGDP01072 nsv527025 2 11741036 11750910 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703400 S 2026 0 1 "" esv26740 2 11749878 11755426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10240 S 451 0 3 "" NA18511,NA18517,NA18523 esv269391 2 11796093 11796395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494273,essv2495500,essv2506449 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18916,NA19108 nsv528398 2 11796556 11796625 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704988 S 2026 1 0 "" nsv2608 2 11828147 11836870 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6817 S 9 1 0 LPIN1 NA12156 nsv833403 2 11862003 12043085 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441791 S 95 1 0 LPIN1,MIR4262 nsv512767 2 11866674 11867141 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625397 S 1 1 0 LPIN1 1 nsv2609 2 11895214 11927813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2249 S 9 1 0 "" NA18555 nsv508710 2 11900422 11946006 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617454 S 4 0 1 "" CHM nsv511765 2 11910755 11913795 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626413 S 1 0 1 "" 1 esv2513600 2 11911229 11912974 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358968 S 1 0 1 "" NA18507 esv21772 2 11911456 11912751 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16551 S 451 13 1 "" NA07037,NA11995,NA12004,NA12239,NA12776,NA18502,NA18505,NA18508,NA18511,NA18858,NA18907,NA18916,NA19147,NA19257 nsv820510 2 11911456 11912751 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420048 S 1 0 1 "" NA10851 nsv2611 2 11924603 11969621 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7465 S 9 0 1 "" NA12156 nsv821015 2 11936307 11939000 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420059 S 1 0 1 "" NA10851 esv29387 2 11936443 11945511 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14967,esv19644 M 451 35 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820275 2 11936890 11942059 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419687 S 2 1 0 "" AK1 nsv2612 2 12049722 12083290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5776 S 9 1 0 "" NA19129 esv21903 2 12189926 12190560 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19940 S 451 0 1 "" NA18505 nsv437402 2 12218482 12225399 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467283 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12801 esv22802 2 12229279 12230124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19936 S 451 0 5 "" NA06985,NA11894,NA18505,NA19190,NA19257 nsv518596 2 12290074 12291291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696043 S 2026 0 1 "" nsv524249 2 12314886 12355644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700141 S 2026 0 1 "" nsv2613 2 12342376 12371965 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6818 S 9 1 0 "" NA12156 esv1001616 2 12415786 12415795 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585643 S 3 1 0 "" HuRef esv1681655 2 12415796 12415796 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360554 S 2 1 0 "" HuRef nsv214225 2 12415797 12415797 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232803 M 24 "" nsv828376 2 12442151 12448701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436405 S 31 0 1 "" NA18542 esv1722134 2 12513663 12513738 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640160 S 2 0 1 "" HuRef esv1470787 2 12513814 12513814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768535 S 2 1 0 "" HuRef esv1444682 2 12525008 12525008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956717 S 2 1 0 "" HuRef esv1503250 2 12586436 12586485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999786 S 2 0 1 "" HuRef dgv4056n71 2 12768571 12829998 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873664,nsv873665 M 6533 0 3 MIR3125,TRIB2 IS34996,MS11703,MS19808 nsv873666 2 12792172 12829998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585460 S 6533 0 1 MIR3125,TRIB2 IS37467 esv1456728 2 12844230 12844287 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288239 S 2 0 1 "" HuRef nsv508075 2 12885719 12891719 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621516 S 4 0 1 "" NA15510 esv5585 2 12905803 12906265 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28026 S 1 0 0 "" SJK nsv2614 2 12980935 13010545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4399 S 9 1 0 "" NA12878 esv272967 2 12993996 12994202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580914 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268162 2 12994005 12994302 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548472,essv2521785,essv2544389,essv2537523,essv2528481,essv2538931,essv2544705,essv2562854,essv2523929,essv2552812,essv2541351,essv2538394,essv2540494,essv2565025,essv2561295,essv2539757,essv2549457,essv2560045,essv2522202,essv2566207,essv2531116,essv2532891,essv2567856,essv2567526,essv2541550,essv2563835,essv2535857,essv2542052,essv2533871,essv2573269,essv2555454,essv2533799,essv2573922,essv2527408,essv2557640,essv2555871,essv2534187,essv2543080,essv2577066,essv2572002,essv2526888,essv2575402,essv2563122 M 157 43 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12045,NA12144,NA12414,NA12878,NA12891,NA18519,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18558,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18603,NA18608,NA18856,NA18916,NA18942,NA18943,NA18944,NA18951,NA18952,NA18953,NA18956,NA18959,NA18965,NA18970,NA18973,NA19005,NA19099 esv25211 2 13004883 13010647 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20410 S 451 0 1 "" NA12287 nsv517437 2 13005831 13007183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688718,nssv652960,nssv660673,nssv656587,nssv684676,nssv656840,nssv652017 M 2026 0 7 "" nsv833414 2 13032063 13188099 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441792 S 95 1 0 LOC100506474 dgv4057n71 2 13054464 13196109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873667,nsv873668 M 6533 0 2 LOC100506474 IS35862,MS22765 nsv518954 2 13064096 13119667 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696422 S 2026 1 0 LOC100506474 nsv527888 2 13067291 13073836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704391 S 2026 0 1 "" nsv873669 2 13085683 13250777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579789 S 6533 0 1 "" IS35181 nsv214196 2 13088609 13088888 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232774 M 24 "" dgv442n27 2 13108727 13206469 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv455686,nsv455708,nsv469493,nsv455697,nsv455675,nsv469460,nsv455664,nsv469471,nsv469482 M 1557 9 0 "" 1788485588_A,HGDP00966,HGDP01072,HGDP01266,HGDP01272,HGDP01274,HGDP01280,HGDP01379,NINDS_222 nsv516862 2 13110195 13203052 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658171,nssv692094,nssv661538,nssv655713,nssv654522 M 2026 5 0 "" nsv470444 2 13119667 13235339 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547171,nssv547170 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01266,HGDP01274 nsv833426 2 13157972 13352271 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441793 S 95 0 1 "" esv2524354 2 13175959 13177498 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249026 S 1 0 1 "" NA18507 dgv1149e1 2 13201751 13665273 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv282,essv17983 M 271 0 0 "" NA12003 nsv9369 2 13257520 13259587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28599 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv833437 2 13282286 13468199 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441794 S 95 1 0 "" nsv508076 2 13288255 13294255 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621517,nssv624264,nssv618533 M 4 0 3 "" CHM,NA15510,NA18994 nsv9380 2 13291673 13298358 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28639 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv873670 2 13292214 13517880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525745 S 6533 0 1 "" SP56797 nsv2615 2 13321935 13354594 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10206 S 9 1 0 "" NA18956 dgv1150e1 2 13389162 13575685 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24698,essv19393,essv15992 M 271 0 0 "" NA11829,NA11840,NA18501 nsv428368 2 13389162 13575685 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453576 S 62 0 1 "" NA18916 essv24302 2 13389162 13665273 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10856 nsv9391 2 13411117 13515767 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26172,nssv26865,nssv28679,nssv26725,nssv27168,nssv25439,nssv23391,nssv23084,nssv27034,nssv23987,nssv25165,nssv25162,nssv22766,nssv27038,nssv28393,nssv23081,nssv25947,nssv26566,nssv27825 M 31 4 9 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA18517,NA18942,NA18980,NA19132,NA19144,NA19221,NA19240 esv22157 2 13417182 13484801 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15741,esv13801 M 451 6 4 "" NA07037,NA12489,NA12776,NA12878,NA15510,NA18502,NA18861,NA18916,NA19147,NA19240 dgv4058n71 2 13424444 14257740 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873675,nsv873674,nsv873673,nsv873671 M 6533 4 0 "" SP51063,SP51376,SP52139,SP55765 dgv611n67 2 13429871 13479402 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828398,nsv828387 M 31 2 0 "" NA18582,NA18968 esv33147 2 13432999 13477144 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97591,essv97258,essv99664,essv100371,essv94210 M 51 0 5 "" 21616,22075,22217,22300,22394 nsv873672 2 13442364 13526105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515330 S 6533 0 1 "" SP56172 nsv526994 2 13460343 13482587 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703369 S 2026 0 1 "" esv28993 2 13497032 13515653 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16331 S 451 5 3 "" NA07037,NA12489,NA12878,NA15510,NA18502,NA18861,NA18916,NA19240 nsv828409 2 13501961 13514712 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424063 S 31 1 0 "" NA18968 nsv873676 2 13503450 13549186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566826 S 6533 1 0 "" IS30925 esv272692 2 13538150 13538402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584340,essv2584445,essv2583289 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268760 2 13538150 13538434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552545,essv2537040,essv2569074,essv2527835,essv2539467,essv2533813,essv2529719,essv2574559,essv2572660,essv2571309,essv2546146,essv2574117 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517,NA18861,NA18907,NA18912,NA18916,NA19093,NA19138,NA19143,NA19238,NA19239,NA19240 nsv9402 2 13543077 13553032 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27920 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 nsv9413 2 13617112 13624284 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28719 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv9424 2 13626973 13637145 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28759 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv33656 2 13627356 13637146 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96760 S 51 0 1 "" 21659 nsv524272 2 13633992 13637083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700170 S 2026 0 1 "" nsv9436 2 13637145 13640050 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24576 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv833448 2 13733235 13865065 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441795 S 95 1 0 "" nsv828420 2 13775688 13778622 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434236 S 31 1 0 "" NA18570 nsv528607 2 13824368 13873078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705233 S 2026 0 1 "" nsv518955 2 13863047 13870945 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696423 S 2026 1 0 "" esv988573 2 13877383 13877383 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572504 S 3 1 0 "" HuRef esv1524960 2 13877446 13877446 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877120 S 2 1 0 "" HuRef nsv526974 2 13926497 13934760 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703346 S 2026 1 0 "" esv1595292 2 13971904 13971970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832912 S 2 0 1 "" HuRef esv2261040 2 13983283 13983701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559804 S 1 0 1 "" NA18507 esv2119691 2 13993009 13993419 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541423 S 1 0 1 "" NA18507 nsv873677 2 14000228 14123211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537051 S 6533 0 1 "" MS13095 nsv470445 2 14095364 14235257 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547174,nssv547172,nssv547173 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864,HGDP01061,HGDP01397 dgv4059n71 2 14096435 14221090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873678,nsv873679 M 6533 0 2 "" IS33196,MS17114 esv22174 2 14107547 14116937 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15385 S 451 0 1 "" NA19129 nsv2616 2 14111552 14145219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1478 S 9 1 0 "" NA19240 nsv873680 2 14139213 14215760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509446 S 6533 0 1 "" SP54792 esv988045 2 14184182 14184290 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571146 S 3 0 1 "" HuRef esv1706983 2 14184293 14184374 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960870 S 2 0 1 "" HuRef nsv213826 2 14186861 14186931 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232404 M 24 "" nsv833459 2 14218880 14382993 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441797 S 95 1 0 "" nsv508077 2 14223052 14229052 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624265,nssv618534 M 4 0 2 "" CHM,NA18994 esv2751827 2 14246678 14297728 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988398,essv6981386,essv6981387 M 771 1 0 "" BEC_175 nsv526442 2 14257740 14300558 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702745 S 2026 1 0 "" dgv1151e1 2 14263242 14286419 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24213,esv1344 M 271 0 0 "" NA12144 nsv873681 2 14264093 14291348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558637,nssv1588524,nssv1598172,nssv1587638,nssv1594832,nssv1595675 M 6533 6 0 "" IS38078,IS38210,IS40038,IS40297,IS40883,MS23456 dgv147e55 2 14271361 14298705 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34509,esv2751828 M 771 2 0 "" NA12144,SPC_178 nsv517171 2 14273172 14329634 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692245,nssv675111,nssv678552,nssv692189,nssv652217,nssv671175,nssv653922,nssv688577,nssv676586,nssv693984 M 2026 10 0 "" esv2751829 2 14277550 14334223 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981718,essv6985652 M 771 1 0 "" BEC_328 esv21635 2 14283523 14284134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16594 S 451 0 1 "" NA12749 nsv2617 2 14299819 14345276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6820 S 9 0 1 "" NA12156 esv2553989 2 14331825 14332322 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209304 S 1 1 0 "" NA18507 esv1763059 2 14332058 14332058 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029479 S 2 1 0 "" HuRef nsv514981 2 14333140 14333262 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628467 S 1414 0 0 "" nsv833470 2 14350933 14464805 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441798 S 95 1 0 "" nsv528565 2 14413897 14427585 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705181 S 2026 1 0 "" esv3975 2 14448649 14449111 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26416 S 1 0 1 Single Asian sample YH "" YH nsv508712 2 14485107 14523238 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617455 S 4 0 1 "" CHM nsv9447 2 14594275 14603437 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27520,nssv27298,nssv27029 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18860,NA18942,NA19240 nsv455730 2 14609386 14627062 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533225 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00797 dgv1152e1 2 14609386 14627543 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19729,esv976 M 271 0 0 "" NA10859 nsv526615 2 14610212 14627062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702935 S 2026 0 1 "" nsv2618 2 14613581 14635079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4400 S 9 0 1 "" NA12878 dgv1153e1 2 14614859 14627543 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24165,essv22256,essv24096,essv21501 M 271 0 0 "" NA07048,NA11992,NA12003,NA12751 nsv516976 2 14619875 14640629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655329,nssv671940,nssv654959,nssv697620,nssv693353,nssv659592,nssv676383,nssv659245,nssv675505,nssv655237,nssv657664,nssv652558,nssv677614,nssv663187,nssv658736,nssv683052,nssv654845,nssv674979,nssv673925,nssv654475,nssv684885,nssv654256,nssv693009,nssv688861,nssv676469,nssv656588,nssv670819,nssv654358,nssv661608,nssv687910,nssv672215,nssv663214,nssv682021,nssv676358,nssv652822,nssv662602,nssv659873,nssv655652,nssv666591,nssv680649,nssv687666,nssv691584,nssv653676,nssv652801,nssv690194,nssv667877,nssv669725,nssv690366,nssv693545,nssv672528,nssv672592,nssv693780,nssv665334,nssv669711,nssv651673,nssv653540,nssv667597,nssv683994,nssv687154,nssv677641,nssv667726,nssv684546,nssv657887,nssv656935,nssv671660,nssv684783,nssv653367,nssv657815,nssv688719,nssv654697,nssv692003 M 2026 0 71 "" nsv9458 2 14621178 14628661 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25698 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv25578 2 14621617 14627496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10553 S 451 0 2 "" NA12489,NA12878 nsv514053 2 14622233 14627230 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628169 S 1414 0 1 "" esv2421520 2 14622400 14627543 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5113522,essv5158132,essv5131724,essv5124391,essv5126854,essv5115569,essv5087453,essv5029753,essv5100040,essv5157634,essv5071954,essv5016160,essv5160337,essv5002987,essv5136392,essv5036918,essv5046706,essv5072853,essv5109557,essv5017010,essv5008020,essv5127273,essv5108345,essv5143343,essv5064395,essv5014224,essv5003637,essv5018310,essv5012313,essv5037228,essv5112096 M 1184 0 31 "" NA07014,NA07051,NA10859,NA11882,NA11992,NA12003,NA12340,NA12489,NA12751,NA12767,NA12778,NA12878,NA12891,NA18125,NA19204,NA19682,NA19683,NA19789,NA20518,NA20530,NA20753,NA20786,NA20800,NA20801,NA20803,NA20850,NA20854,NA20875,NA20887,NA21408,NA21739 esv32757 2 14622586 14627151 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97558,essv99741,essv100410 M 51 0 3 "" 21616,22217,22300 nsv817629 2 14622841 14627062 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416129,nssv1418046,nssv1418045,nssv1416130,nssv1415936 M 112 0 5 "" NA10859,NA11882,NA12751,NA12878,NA12891 dgv1154e1 2 14622841 14627543 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24335,essv18787,essv18018,essv19039 M 271 0 0 "" NA07034,NA11882,NA12878,NA12891 nsv455741 2 14622841 14682651 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533232 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00630 nsv441748 2 14623720 14627544 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2751830 2 14624232 14627553 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984703,essv6984704 M 771 0 1 "" SPC_167 nsv524713 2 14683228 14684265 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700698 S 2026 0 1 "" esv27592 2 14770495 14772707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15235 S 451 0 1 "" NA18858 nsv528953 2 14804724 14809333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705649 S 2026 1 0 "" nsv469525 2 14859310 15023784 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649598 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv471616 2 14859311 15023784 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548847 S 48 0 1 "" NA10493 nsv527540 2 14887333 14888493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704001 S 2026 0 1 "" nsv515567 2 14922199 15824229 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702968,nssv681394,nssv695341,nssv681566,nssv663925,nssv702504,nssv655860,nssv695669,nssv682350,nssv677848,nssv703182,nssv665999 M 2026 4 8 DDX1,NBAS esv272959 2 14938750 14938835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581581 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv4060n71 2 15065789 15116419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873683,nsv873682 M 6533 0 7 "" SP50126,SP52253,SP53293,SP54225,SP54337,SP54627,SP57067 esv267866 2 15081185 15081522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521396,essv2526295,essv2522739,essv2570841,essv2556747,essv2568282,essv2545374,essv2523411,essv2548582,essv2521608,essv2576572,essv2550742,essv2525295,essv2535246,essv2544503,essv2520397,essv2547480,essv2558283,essv2565245,essv2554956,essv2561936,essv2537663,essv2547118,essv2557030,essv2551832,essv2532082,essv2569461,essv2558928,essv2561711,essv2553071,essv2534632,essv2561291,essv2539775,essv2549250,essv2519811,essv2559881,essv2566172,essv2530995,essv2569980,essv2535743,essv2559255,essv2551026,essv2569164,essv2527885,essv2578460,essv2567026,essv2531347,essv2577029,essv2529731,essv2538535,essv2526614,essv2549661,essv2571277,essv2574154,essv2551280,essv2538164,essv2533073,essv2554785,essv2547999 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA11894,NA11918,NA11931,NA11993,NA11994,NA11995,NA12003,NA12004,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12414,NA12716,NA12717,NA12750,NA12812,NA12872,NA12874,NA12878,NA12892,NA18501,NA18504,NA18505,NA18508,NA18516,NA18523,NA18542,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18593,NA18608,NA18638,NA18858,NA18861,NA18907,NA18940,NA18947,NA18961,NA18970,NA19093,NA19108,NA19114,NA19225,NA19238,NA19240,NA19257 esv272642 2 15081186 15081523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581882,essv2582955,essv2584236,essv2583522 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv2509036 2 15083054 15084574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315680 S 1 0 1 "" NA18507 esv3255 2 15083593 15084315 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25696 S 1 0 1 Single Asian sample YH "" YH esv9607 2 15083733 15084106 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32048 S 1 0 1 "" SJK nsv213809 2 15083737 15084062 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232387 M 24 "" dgv1155e1 2 15119640 15275310 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv112,essv13075 M 271 0 0 NBAS NA18852 esv1474340 2 15155769 15155769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922293 S 2 1 0 "" HuRef esv2617488 2 15436355 15437453 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289666 S 1 1 0 NBAS NA18507 esv268567 2 15436966 15437305 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565746,essv2575918,essv2571616,essv2546561,essv2526138,essv2542373,essv2536587,essv2522686,essv2543814,essv2570798,essv2523443,essv2577514,essv2570669,essv2548507,essv2521784,essv2576642,essv2550667,essv2525262,essv2535090,essv2554160,essv2552248,essv2547227,essv2558616,essv2564453,essv2577831,essv2553875,essv2559551,essv2576162,essv2520118,essv2564090,essv2555050,essv2530626,essv2562009,essv2537298,essv2528188,essv2546738,essv2530454,essv2540218,essv2557267,essv2552591,essv2551820,essv2569453,essv2578775,essv2558892,essv2536926,essv2539114,essv2527121,essv2561438,essv2544787,essv2523621,essv2552831,essv2541411,essv2538264,essv2540655,essv2524447,essv2565151,essv2534873,essv2539875,essv2560048,essv2522107,essv2566132,essv2563804,essv2535678,essv2559204,essv2567002,essv2551126,essv2556382,essv2527799,essv2562514,essv2534170,essv2555290,essv2566562,essv2530061,essv2522400,essv2572161,essv2525552,essv2575500,essv2575138,essv2538766,essv2526498,essv2560678,essv2523945,essv2560936,essv2574686,essv2530364,essv2568614,essv2548159,essv2571167,essv2545726,essv2574185,essv2551273,essv2536052,essv2538167,essv2548897,essv2533364,essv2554355,essv2547750,essv2525183,essv2557962 M 157 99 0 Samples from several populations that are part of the HapMap project. NBAS NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18501,NA18502,NA18504,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18563,NA18570,NA18571,NA18572,NA18603,NA18608,NA18638,NA18853,NA18858,NA18871,NA18907,NA18909,NA18916,NA18943,NA18948,NA18949,NA18960,NA18973,NA18980,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19147,NA19210,NA19238,NA19239,NA19240,NA19257 esv274491 2 15436966 15437305 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582021,essv2582558,essv2582972,essv2584292,essv2584770,essv2583434 M 7 6 0 Samples from several populations that are part of the HapMap project. NBAS NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1243706 2 15437004 15437004 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744656 S 2 1 0 NBAS HuRef nsv819028 2 15437342 15438247 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419116 S 2 1 0 NBAS AK1 dgv612n67 2 15437358 15439235 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828464,nsv828431 M 31 2 0 NBAS NA18564,NA18592 dgv613n67 2 15437373 15438523 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828453,nsv828442,nsv828476 M 31 4 0 NBAS AK6,AK8,NA18951,NA18969 esv6386 2 15465836 15465908 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28827 S 1 1 0 NBAS SJK esv1330669 2 15599423 15599423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823264 S 2 1 0 NBAS HuRef esv2257722 2 15711914 15712380 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664887 S 1 0 1 "" NA18507 nsv828487 2 15733965 15741775 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426456 S 31 1 0 "" AK6 esv2220341 2 15845215 15845584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528079 S 1 0 1 "" NA18507 nsv214726 2 15848562 15848562 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233304 M 24 "" nsv2619 2 15852798 15887470 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3010 S 9 1 0 "" NA18555 nsv520284 2 15921874 15936568 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694373 S 2026 1 0 "" nsv520657 2 16062968 16067231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675260,nssv673619 M 2026 0 2 "" esv2464817 2 16146655 16148247 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199411 S 1 0 1 "" NA18507 esv2225057 2 16147544 16147965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934174 S 1 0 1 "" NA18507 esv1439556 2 16147853 16147949 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629115 S 2 0 1 "" HuRef esv2558766 2 16167934 16169445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368047 S 1 0 1 "" NA18507 esv2310294 2 16168372 16169065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833619 S 1 0 1 "" NA18507 esv4514 2 16168401 16169110 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26955 S 1 0 1 Single Asian sample YH "" YH esv990164 2 16168558 16168882 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581465 S 3 0 1 "" HuRef esv5766 2 16168564 16168878 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28207 S 1 0 1 "" SJK esv1254765 2 16168571 16168896 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310114 S 2 0 1 "" HuRef esv1141969 2 16269891 16269891 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157136 S 2 1 0 "" HuRef nsv2620 2 16333660 16367044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3011 S 9 1 0 "" NA18555 nsv517581 2 16345331 16346420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693781,nssv652431,nssv667175,nssv689607,nssv662816,nssv681578,nssv678458 M 2026 0 7 "" nsv455763 2 16345331 16414864 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533248 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01237 nsv833481 2 16361494 16551074 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441799 S 95 1 0 "" esv34115 2 16383293 16737520 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FAM49A nsv528305 2 16409763 16414864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704883 S 2026 0 1 "" esv22130 2 16414792 16416127 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17223 S 451 0 1 "" NA19114 nsv833492 2 16430260 16582553 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441802,nssv1441801,nssv1441800 M 95 3 0 "" esv5548 2 16440251 16440305 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27989 S 1 1 0 "" SJK esv25288 2 16530570 16531273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18926 S 451 0 1 "" NA19108 nsv506999 2 16589212 16595212 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621988,nssv620712 M 4 2 0 FAM49A NA10860,NA15510 nsv2622 2 16692674 16726879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3012 S 9 1 0 FAM49A NA18555 esv23923 2 16710404 16711060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19476 S 451 0 1 FAM49A NA07045 esv270998 2 16802791 16803058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512554,essv2498901 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA19138 dgv4061n71 2 16845359 17131742 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873685,nsv873684,nsv873686 M 6533 4 0 "" IS36975,IS37270,IS38346,IS39022 nsv525774 2 16887578 16899190 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701946 S 2026 1 0 "" nsv508713 2 16903033 16933643 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617456 S 4 0 1 "" CHM dgv1156e1 2 16925212 16931006 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7893,esv982 M 271 0 0 "" NA19239 nsv833503 2 16952266 17123295 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441803 S 95 0 1 "" nsv507000 2 17005917 17011917 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621989,nssv623329 M 4 2 0 "" NA10860,NA18994 nsv873687 2 17011348 17110615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567743 S 6533 0 1 "" IS31145 esv2422487 2 17056039 17204865 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161541 S 181 1 0 "" ND01493 nsv455775 2 17079940 17095859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533259 S 1557 0 1 "" 1780854592_A nsv437413 2 17082225 17105642 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467294 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12801 nsv517728 2 17084885 17095859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672785,nssv688637,nssv669888,nssv673268,nssv659800,nssv691833,nssv684258,nssv671893,nssv688382,nssv657918,nssv690288,nssv686398,nssv685992,nssv683105,nssv678553,nssv667176,nssv677053,nssv653028,nssv687584,nssv691962 M 2026 0 20 "" nsv817640 2 17084885 17095859 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416030,nssv1416029 M 112 0 2 "" NA12801,NA12812 nsv438193 2 17086609 17095859 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470130,nssv470141,nssv470152,nssv470119 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12801,NA12812 esv2562249 2 17188728 17190097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230588 S 1 0 1 "" NA18507 nsv2623 2 17303485 17348129 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7466 S 9 0 1 "" NA12156 nsv528878 2 17337926 17342979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705558 S 2026 0 1 "" nsv833514 2 17341117 17494103 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441804 S 95 1 0 "" esv2334618 2 17381912 17382342 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764342 S 1 0 1 "" NA18507 dgv59n16 2 17446697 17454631 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435708,nsv436308 M 2 0 2 "" NA15510,NA18505 esv28419 2 17447561 17455527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13026,esv15912 M 451 0 11 "" NA07037,NA07045,NA18502,NA18505,NA18523,NA18858,NA18861,NA18907,NA19099,NA19190,NA19225 esv2485815 2 17448107 17454813 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253077 S 1 0 1 "" NA18507 esv2228726 2 17448440 17454256 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755239 S 1 0 1 "" NA18507 esv1009704 2 17448884 17454008 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586173 S 3 1 0 "" HuRef nsv213269 2 17522829 17522829 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231847 M 24 "" dgv1157e1 2 17751531 17838572 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1091,essv5846 M 271 0 0 GEN1,SMC6 NA18524 nsv522195 2 17771611 17825931 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694055 S 2026 0 1 GEN1,SMC6 esv2439754 2 17775752 17777163 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340039 S 1 0 1 SMC6 NA18507 dgv4062n71 2 17793676 18089609 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873688,nsv873690,nsv873689 M 6533 3 0 GEN1,KCNS3,MSGN1,SMC6 SP54268,SP57250,SP81388 esv2061440 2 17822938 17823310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763763 S 1 0 1 GEN1 NA18507 nsv518050 2 17947331 18253696 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695461 S 2026 1 0 KCNS3 esv2509266 2 17981362 17983898 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224501 S 1 0 1 "" NA18507 nsv511187 2 17981474 17985679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626410 S 1 0 1 "" 1 nsv511766 2 17982134 17983522 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626414 S 1 0 1 "" 1 esv2025534 2 17982170 17983691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885652 S 1 0 1 "" NA18507 esv25315 2 17982326 17983503 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10404,esv17914 M 451 0 7 "" NA07037,NA12287,NA12489,NA18858,NA18907,NA19147,NA19190 nsv828498 2 17982411 17983178 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428087,nssv1424594,nssv1424022,nssv1424074,nssv1438001,nssv1427320 M 31 0 6 "" AK10,AK8,NA18582,NA18947,NA18951,NA18968 nsv828509 2 17982411 17983916 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432652 S 31 0 1 "" NA18972 dgv1158e1 2 18005614 18088988 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15436,esv891 M 271 0 0 "" NA19206 esv1128484 2 18008269 18008269 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328369 S 2 1 0 "" HuRef nsv528069 2 18026019 18056323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704605 S 2026 1 0 "" nsv873691 2 18027050 18062826 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582406,nssv1600945,nssv1588861,nssv1582187,nssv1597570,nssv1588003,nssv1583552,nssv1511868,nssv1600860,nssv1596700,nssv1596444,nssv1595309,nssv1599876,nssv1564923,nssv1527056,nssv1580744,nssv1593786,nssv1547415,nssv1590236,nssv1590517,nssv1576552,nssv1568645,nssv1528093,nssv1572528,nssv1568340,nssv1597827,nssv1571850,nssv1580447,nssv1599291,nssv1528022,nssv1596238,nssv1520352,nssv1520464,nssv1588998,nssv1572748,nssv1526259,nssv1568255,nssv1578518,nssv1515031,nssv1568719,nssv1520094,nssv1519449,nssv1562257,nssv1585190,nssv1583600,nssv1598895,nssv1600357,nssv1527309,nssv1578699 M 6533 17 32 "" IS30319,IS31227,IS31251,IS31326,IS31334,IS32841,IS33123,IS33175,IS34124,IS34803,IS34872,IS35312,IS35447,IS35833,IS35940,IS36532,IS36536,IS37337,IS38144,IS38263,IS38277,IS38474,IS38521,IS39519,IS40224,IS40458,IS40520,IS40618,IS40920,IS41054,IS41128,IS41549,IS41804,IS41874,IS41937,IS41949,MS17373,MS25471,SP50684,SP50828,SP51079,SP55131,SP56114,SP57140,SP58097,SP58328,SP81036,SP81107,SP81127 dgv4063n71 2 18027050 18073245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873693,nsv873692 M 6533 0 2 "" IS33530,IS40801 nsv437278 2 18027050 18073245 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467159 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 dgv4064n71 2 18027050 18123023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873695,nsv873694 M 6533 0 10 "" IS32717,IS32723,IS34484,IS35388,IS35441,IS36876,IS37621,IS41013,IS41025,MS10400 nsv438204 2 18035293 18056322 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470208,nssv470197,nssv470186,nssv470163,nssv470174 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA19093,NA19094,NA19206 nsv441749 2 18037156 18056737 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1159e1 2 18039601 18088988 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12916,essv8415 M 271 0 0 "" NA19093,NA19094 nsv817651 2 18048653 18056323 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418252,nssv1418251 M 112 0 2 "" NA19093,NA19094 nsv516214 2 18048653 18067272 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670838,nssv687404,nssv680068,nssv666854,nssv693103,nssv682022,nssv656635,nssv686792,nssv676746,nssv675729,nssv704073,nssv685872,nssv703664,nssv668589,nssv675113,nssv668676,nssv658325,nssv656357 M 2026 2 16 "" nsv455808 2 18049071 18115436 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533284 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00007 esv25395 2 18123732 18131478 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18882 S 451 0 1 "" NA18517 nsv873696 2 18129002 18178027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587236 S 6533 0 1 "" IS37999 esv2524243 2 18169226 18170339 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285827 S 1 1 0 "" NA18507 esv270534 2 18169865 18170197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520103,essv2540175,essv2557318,essv2562575,essv2556177,essv2529527,essv2575685,essv2538699,essv2526483,essv2547733 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12815,NA18489,NA18499,NA18507,NA18871,NA19093,NA19099,NA19108,NA19114 esv2751834 2 18180122 18205353 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988842,essv6984735 M 771 1 0 "" SPC_171 nsv516186 2 18189686 18206726 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681694,nssv666673,nssv658148 M 2026 3 0 "" nsv873697 2 18189686 18263047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598066 S 6533 0 1 "" IS40879 esv2751835 2 18191820 18205353 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982628,essv6986218 M 771 1 0 "" BEC_573 esv2751836 2 18191820 18223709 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981648,essv6985626 M 771 1 0 "" BEC_311 nsv437424 2 18250315 18254080 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467305 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10861 nsv438215 2 18253105 18253696 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470230,nssv470219 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10861,NA11994 nsv873698 2 18269399 18322345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521764 S 6533 0 1 "" SP52572 esv2751837 2 18285494 18876595 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988559,essv6982612,essv6982613,essv6986214 M 771 1 0 NT5C1B,NT5C1B-RDH14,RDH14 BEC_570 nsv873699 2 18296112 18347525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562473 S 6533 0 1 "" MS25617 esv22306 2 18299842 18302534 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12913 S 451 0 1 "" NA18502 nsv833525 2 18303565 18476069 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441805 S 95 1 0 "" nsv518051 2 18314094 18322345 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695462 S 2026 1 0 "" esv28118 2 18339031 18341960 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13688 S 451 2 0 "" NA12156,NA12749 esv1528060 2 18339358 18339358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677971 S 2 1 0 "" HuRef esv2610635 2 18339726 18343484 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161901 S 1 0 1 "" NA18507 esv1365418 2 18340668 18340668 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764239 S 2 1 0 "" HuRef esv1332286 2 18340694 18340694 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760406 S 2 1 0 "" HuRef esv1022608 2 18341419 18341419 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765510 S 2 1 0 "" HuRef esv2088854 2 18367582 18368024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964850 S 1 0 1 "" NA18507 nsv213779 2 18398176 18398176 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232357 M 24 "" esv993411 2 18430532 18431159 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587262 S 3 0 1 "" HuRef nsv520890 2 18550046 18551015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677239,nssv689398,nssv677023,nssv689757 M 2026 0 4 "" nsv2624 2 18572658 18607655 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4401 S 9 1 0 NT5C1B,NT5C1B-RDH14,RDH14 NA12878 esv2229780 2 18616222 18616720 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839237 S 1 0 1 NT5C1B,NT5C1B-RDH14 NA18507 nsv519085 2 18619133 18754160 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696559 S 2026 0 1 NT5C1B,NT5C1B-RDH14 dgv614n67 2 18648463 18650113 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828520,nsv828531 M 31 0 2 "" AK18,AK8 nsv213907 2 18769631 18770832 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232485 M 24 "" esv1009006 2 18770713 18771185 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586797 S 3 0 1 "" HuRef esv1136863 2 18799982 18800074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167093 S 2 0 1 "" HuRef esv5357 2 18866314 18866932 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27798 S 1 0 1 Single Asian sample YH "" YH dgv615n67 2 18866351 18866847 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828542,nsv828553 M 31 0 21 "" AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 esv22834 2 18866351 18866847 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18851 S 451 15 0 "" NA11993,NA12414,NA12749,NA12776,NA12828,NA12878,NA18505,NA18907,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225 nsv820845 2 18866351 18866847 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420070 S 1 0 1 "" NA10851 nsv2625 2 18875037 18902649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1479 S 9 1 0 "" NA19240 nsv2626 2 19044021 19098922 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11008,nssv5777,nssv9564,nssv1480,nssv6821,nssv9342,nssv2250,nssv4402 M 9 0 8 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA19129,NA19240 esv993198 2 19044579 19090180 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565686 S 3 0 1 "" HuRef nsv157 2 19051097 19091018 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv157 S 1 0 1 "" NA15510 nsv498913 2 19051686 19088706 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585774 S 9 0 1 "" esv1507318 2 19058768 19077252 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930377 S 2 0 1 "" HuRef nsv508714 2 19063307 19099233 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617457,nssv622805,nssv619027,nssv620178 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv516775 2 19252780 19272888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670755,nssv690182 M 2026 0 2 "" nsv2627 2 19348960 19382389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7467 S 9 1 0 "" NA12156 nsv522943 2 19351070 19360699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698608 S 2026 0 1 "" nsv819849 2 19416398 19416930 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418987 S 2 1 0 OSR1 AK1 nsv517767 2 19444015 19446256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691627,nssv653160,nssv670913,nssv676262 M 2026 0 4 "" nsv873700 2 19444015 19506029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549038 S 6533 1 0 "" MS18003 nsv873701 2 19444015 19535662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560264 S 6533 1 0 "" MS24400 nsv873702 2 19444015 19741675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544041 S 6533 1 0 "" MS16213 esv29979 2 19472128 20544415 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84218 S 2 0 1 FLJ12334,LAPTM4A,MATN3,PUM2,RHOB,SDC1,TTC32,WDR35 HuRef esv274973 2 19509571 19509978 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585401 S 1250 0 1 "" dgv4065n71 2 19526819 19723895 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873704,nsv873703 M 6533 2 0 "" MS15427,MS18003 esv25401 2 19549986 19551112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10904 S 451 0 1 "" NA19190 nsv873705 2 19565318 19809013 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560265 S 6533 1 0 "" MS24400 nsv2628 2 19598439 19645139 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1481 S 9 0 1 "" NA19240 esv273168 2 19611727 19612067 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579895,essv2580709 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238 esv271467 2 19611864 19612203 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545664,essv2547449,essv2529195,essv2559455,essv2540014,essv2520739,essv2557389,essv2556883,essv2552325,essv2558931,essv2561653,essv2544659,essv2523741,essv2543011,essv2540650,essv2524529,essv2564860,essv2534653,essv2539848,essv2521997,essv2530992,essv2567768,essv2528787,essv2569930,essv2553204,essv2572374,essv2558979,essv2541879,essv2551058,essv2568931,essv2527952,essv2562357,essv2578303,essv2555677,essv2567259,essv2566366,essv2573900,essv2527592,essv2531405,essv2577101,essv2572037,essv2525753,essv2529756,essv2526347,essv2574915,essv2546087,essv2551479,essv2554473 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12003,NA12717,NA12749,NA12776,NA18489,NA18498,NA18499,NA18501,NA18502,NA18516,NA18523,NA18526,NA18537,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18571,NA18573,NA18577,NA18579,NA18593,NA18605,NA18609,NA18638,NA18856,NA18858,NA18861,NA18907,NA18909,NA18940,NA18945,NA18947,NA18948,NA18951,NA18952,NA18961,NA18970,NA18973,NA18980,NA19093,NA19114,NA19138,NA19239,NA19257 dgv4066n71 2 19618640 19651692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873706,nsv873707 M 6533 0 2 "" MS19226,MS21124 nsv436291 2 19629707 19634998 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465891 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv25n50 2 19630270 19634451 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511181,nsv511767 M 1 0 1 "" 1 nsv820000 2 19630841 19634293 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419544 S 2 1 0 "" AK1 esv2040986 2 19630889 19634239 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738777 S 1 0 1 "" NA18507 esv2518476 2 19630905 19635013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278066 S 1 0 1 "" NA18507 nsv821307 2 19630933 19634424 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420081 S 1 0 1 "" NA10851 nsv828564 2 19630933 19634424 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436409,nssv1438643,nssv1421516,nssv1424097 M 31 0 4 "" NA18542,NA18968,NA18973,NA18997 esv25381 2 19631016 19634043 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10685 S 451 26 1 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18508,NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19190,NA19225 nsv498914 2 19631062 19634046 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585775 S 9 0 1 "" nsv514054 2 19631170 19633954 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628181 S 1414 0 1 "" nsv873708 2 19636625 19651692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593724 S 6533 0 1 "" IS39509 nsv873709 2 19653234 19848027 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595817 S 6533 1 0 "" IS40334 nsv523971 2 19704340 19706522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699823 S 2026 0 1 "" nsv2629 2 19751677 19784534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2251 S 9 1 0 "" NA18555 nsv873710 2 19772020 19889800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541670 S 6533 1 0 "" MS15427 esv24838 2 19789126 19789765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16918 S 451 0 3 "" NA12239,NA12414,NA19099 nsv873711 2 19814345 19937341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560266 S 6533 1 0 FLJ12334 MS24400 dgv4067n71 2 19818726 20007853 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873713,nsv873712 M 6533 2 0 FLJ12334,TTC32,WDR35 MS16213,MS18003 esv275217 2 19820485 19821489 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585824,essv2585257 M 1250 1 1 "" esv2559861 2 19830771 19832231 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325042 S 1 0 1 "" NA18507 nsv518598 2 19831425 19836691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696045 S 2026 0 1 "" esv2545031 2 19847369 19848300 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269584 S 1 1 0 "" NA18507 esv1113048 2 19847574 19847574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077691 S 2 1 0 "" HuRef esv33534 2 19849890 19850346 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98155 S 51 1 0 "" 21772 nsv873714 2 19883097 19976569 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595818 S 6533 1 0 FLJ12334,TTC32,WDR35 IS40334 nsv873715 2 19922804 20007853 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541671 S 6533 1 0 FLJ12334,TTC32,WDR35 MS15427 esv269797 2 19940295 19941051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516378,essv2516068 M 157 2 0 Samples from several populations that are part of the HapMap project. FLJ12334 NA12814,NA12873 esv274381 2 19948688 19949042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580907,essv2579775 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271430 2 19948689 19949048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511837,essv2509751,essv2496538,essv2496304,essv2501082,essv2494721,essv2505272,essv2498474,essv2494028,essv2513442,essv2509366,essv2501334,essv2504851,essv2506983,essv2506429,essv2509438,essv2493504,essv2497527,essv2493863,essv2512076,essv2501792 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18508,NA18510,NA18511,NA18516,NA18519,NA18853,NA18858,NA18871,NA18907,NA18909,NA19093,NA19099,NA19102,NA19108,NA19129,NA19137,NA19147,NA19210,NA19238,NA19239 nsv522640 2 19961689 19972542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706038 S 2026 0 1 TTC32 nsv521619 2 19961689 20014298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698237 S 2026 0 1 TTC32,WDR35 nsv527453 2 19972542 20023690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703894 S 2026 1 0 WDR35 esv273450 2 20040880 20041224 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578948 S 7 1 0 Samples from several populations that are part of the HapMap project. WDR35 NA19239 nsv2630 2 20180002 20212669 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4404 S 9 1 0 "" NA12878 esv991709 2 20240369 20246852 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563694 S 3 0 1 "" HuRef nsv819169 2 20265743 20266658 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419120 S 2 1 0 SDC1 AK1 esv29269 2 20286708 20288691 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15661 S 451 0 1 SDC1 NA07045 nsv524207 2 20312042 20366917 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700094 S 2026 1 0 PUM2 nsv873716 2 20435575 20484885 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554114 S 6533 1 0 "" MS20616 nsv455830 2 20484885 20523343 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533302 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RHOB HGDP00553 dgv4068n71 2 20488655 20623270 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873717,nsv873719,nsv873720,nsv873721,nsv873718 M 6533 5 0 RHOB MS17696,MS18789,MS18824,MS19177,MS22207 dgv56n68 2 20493573 20727559 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833548,nsv833537 M 95 0 2 HS1BP3,RHOB esv1234006 2 20505499 20505893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114369 S 2 0 1 "" HuRef esv28921 2 20509050 20509560 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15782 S 451 1 0 "" NA18916 nsv482049 2 20510316 20512681 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558410 S 1 1 0 RHOB KB1 nsv873722 2 20515988 20569391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537836 S 6533 1 0 "" MS13383 esv2438580 2 20529542 20531237 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272657 S 1 0 1 "" NA18507 esv2124231 2 20529962 20530637 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616737 S 1 0 1 "" NA18507 esv5131 2 20530114 20530552 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27572 S 1 0 1 Single Asian sample YH "" YH esv989927 2 20530156 20530462 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567257 S 3 0 1 "" HuRef esv1195912 2 20530159 20530466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663278 S 2 0 1 "" HuRef esv9021 2 20530164 20530466 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31462 S 1 0 1 "" SJK nsv873723 2 20541481 20583718 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555205 S 6533 1 0 "" MS21236 nsv873724 2 20541481 20620767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589977 S 6533 1 0 "" IS38439 esv2154027 2 20646452 20646840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592575 S 1 0 1 "" NA18507 nsv215414 2 20646537 20646614 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233992 M 24 "" nsv508828 2 20667361 20742319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619898 S 4 1 0 GDF7,HS1BP3 NA10860 nsv517472 2 20678064 20718657 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691502,nssv678051,nssv654759,nssv655403,nssv695978,nssv652118,nssv684831,nssv692918 M 2026 0 8 HS1BP3 nsv873725 2 20678064 20718657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530450,nssv1543376 M 6533 0 2 HS1BP3 MS10311,MS16153 nsv527901 2 20681939 20739867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704405 S 2026 0 1 GDF7,HS1BP3 dgv4069n71 2 20693443 20739741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873727,nsv873726 M 6533 0 2 GDF7,HS1BP3 IS39233,SP54988 esv272408 2 20702390 20702475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581365 S 7 1 0 Samples from several populations that are part of the HapMap project. HS1BP3 NA12878 esv2030538 2 20834837 20835260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717792 S 1 0 1 C2orf43 NA18507 nsv455841 2 20950174 20999058 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533310 S 1557 0 1 "" 1780862564_A nsv455852 2 20989223 21006810 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533319 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01308 nsv873728 2 21104419 21314291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601181 S 6533 0 1 APOB IS41982 esv259756 2 21137083 21137457 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398072,essv2395089,essv2395245,essv2397839,essv2394993,essv2395011,essv2399346,essv2396611,essv2394942,essv2399872,essv2400837,essv2397423,essv2395062,essv2400434,essv2398991,essv2400183,essv2399151,essv2396838,essv2399928,essv2400072,essv2397893,essv2397126,essv2400384,essv2397390,essv2399755,essv2399548,essv2396405,essv2398035,essv2398113,essv2397244,essv2394490 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA18486,NA18499,NA18505,NA18511,NA18519,NA18522,NA18526,NA18545,NA18561,NA18564,NA18566,NA18571,NA18592,NA18605,NA18608,NA18609,NA18638,NA18856,NA18861,NA18907,NA18951,NA18960,NA18980,NA19129,NA19137,NA19138,NA19147,NA19172,NA19225,NA19257 nsv213693 2 21137178 21137178 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232271 M 24 "" nsv518443 2 21154275 21159092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695879 S 2026 0 1 "" nsv828575 2 21200695 21202107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426459 S 31 0 1 "" AK6 nsv828587 2 21201137 21201985 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423189 S 31 0 1 "" NA18999 esv2621130 2 21203793 21205106 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380019 S 1 0 1 "" NA18507 esv271794 2 21234653 21234990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575980,essv2540839,essv2546526,essv2526052,essv2522778,essv2570836,essv2568151,essv2545466,essv2548354,essv2576645,essv2550356,essv2535044,essv2554108,essv2544397,essv2520515,essv2547471,essv2529255,essv2558583,essv2564361,essv2553888,essv2559734,essv2537428,essv2528282,essv2544726,essv2562805,essv2523563,essv2541378,essv2542653,essv2540272,essv2524553,essv2564789,essv2534660,essv2561170,essv2539599,essv2519903,essv2559974,essv2521951,essv2566129,essv2531119,essv2532715,essv2567857,essv2528948,essv2567496,essv2541727,essv2570240,essv2553226,essv2559096,essv2533838,essv2578458,essv2555336,essv2533796,essv2567260,essv2566411,essv2530123,essv2527685,essv2522505,essv2531524,essv2573707,essv2573321,essv2536196,essv2537838,essv2549049,essv2533387,essv2525017,essv2563257 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA11830,NA11831,NA11881,NA11918,NA11931,NA11993,NA11995,NA12003,NA12045,NA12154,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12878,NA12891,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18638,NA18916,NA18940,NA18943,NA18944,NA18947,NA18948,NA18949,NA18952,NA18960,NA18961,NA18964,NA18969 esv272465 2 21234655 21234992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582196,essv2582734 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2298289 2 21261266 21261699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876612 S 1 0 1 "" NA18507 esv21873 2 21267778 21268637 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12838 S 451 0 1 "" NA18909 esv28129 2 21296132 21296635 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11312 S 451 1 0 "" NA07037 nsv519215 2 21327256 21356232 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696704 S 2026 1 0 "" nsv523572 2 21342588 21346774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699354 S 2026 0 1 "" nsv518468 2 21342588 21356232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695904 S 2026 0 1 "" esv269964 2 21388592 21388958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494738,essv2498325,essv2511312,essv2508712,essv2499269,essv2512910,essv2493047,essv2495213,essv2499519 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA18519,NA18526,NA18570,NA18592,NA18605,NA18609,NA18951,NA18964 nsv455863 2 21400508 21468845 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533326 S 1557 0 1 "" 1780854464_A nsv213297 2 21426299 21426603 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231875 M 24 "" nsv528844 2 21440730 21458508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705522 S 2026 0 1 "" nsv2631 2 21460500 21505519 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7468 S 9 0 1 "" NA12156 esv25159 2 21464823 21465655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11873 S 451 0 1 "" NA19108 esv2428264 2 21629815 21630823 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379478 S 1 1 0 "" NA18507 esv272025 2 21630176 21630277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511796,essv2503014,essv2493678,essv2506965 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18507,NA18517,NA19102 esv269800 2 21650297 21650619 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565656,essv2576014,essv2541015,essv2571610,essv2546251,essv2521132,essv2525873,essv2542503,essv2536583,essv2522705,essv2544107,essv2570857,essv2556753,essv2568112,essv2545408,essv2523292,essv2531944,essv2577265,essv2570682,essv2548448,essv2521741,essv2576691,essv2550591,essv2525379,essv2550339,essv2535116,essv2553976,essv2544406,essv2552169,essv2520643,essv2547290,essv2529419,essv2558625,essv2564358,essv2577678,essv2559473,essv2565438,essv2576252,essv2520240,essv2564216,essv2530827,essv2561831,essv2537247,essv2528509,essv2546996,essv2540107,essv2520864,essv2557399,essv2556841,essv2552675,essv2551822,essv2532440,essv2569335,essv2578593,essv2550006,essv2558748,essv2536979,essv2538875,essv2569791,essv2527057,essv2561629,essv2544613,essv2563040,essv2523578,essv2552807,essv2541098,essv2542758,essv2540584,essv2524422,essv2565131,essv2534570,essv2561048,essv2539681,essv2549273,essv2519547,essv2559982,essv2521921,essv2566004,essv2530997,essv2532559,essv2567825,essv2528749,essv2567433,essv2541634,essv2569994,essv2563772,essv2553124,essv2535774,essv2572386,essv2559268,essv2566924,essv2541888,essv2551005,essv2568962,essv2543547,essv2556149,essv2527902,essv2562365,essv2539484,essv2533875,essv2578167,essv2572985,essv2555283,essv2533501,essv2555487,essv2567191,essv2566484,essv2529971,essv2573885,essv2527430,essv2557755,essv2556023,essv2534202,essv2522617,essv2531465,essv2573500,essv2543390,essv2573335,essv2577076,essv2571880,essv2526744,essv2529726,essv2575533,essv2575022,essv2538644,essv2526710,essv2560628,essv2524144,essv2560892,essv2574627,essv2568526,essv2560336,essv2548106,essv2549701,essv2571312,essv2546131,essv2574527,essv2551217,essv2536037,essv2537793,essv2548852,essv2533314,essv2554459,essv2547711,essv2525172,essv2563201,essv2558101 M 157 147 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272226 2 21650298 21650618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582248,essv2582677,essv2583032,essv2584238,essv2584696,essv2583810 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv213358 2 21650316 21650316 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231936 M 24 "" esv1293703 2 21650332 21650332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625381 S 2 1 0 "" HuRef esv274361 2 21665742 21666140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580179,essv2580324,essv2579900 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv999121 2 21773042 21776761 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565704 S 3 1 0 LOC645949 HuRef nsv508829 2 21880413 21928354 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621161 S 4 1 0 "" NA15510 nsv507002 2 21896858 21902858 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617556,nssv621990,nssv623331 M 4 3 0 "" CHM,NA10860,NA18994 esv995605 2 21898360 21900438 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565641 S 3 1 0 "" HuRef esv1191614 2 21900015 21900015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725083 S 2 1 0 "" HuRef nsv528966 2 21933275 21961685 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705665 S 2026 0 1 "" nsv2634 2 22065624 22099829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7469 S 9 1 0 "" NA12156 dgv4n43 2 22125108 22956055 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819680,nsv819524,nsv820011,nsv820147 M 2 1 0 "" AK1 nsv511768 2 22181706 22186447 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626416 S 1 0 1 "" 1 esv32997 2 22181860 22185387 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92855 S 51 0 1 "" 21939 nsv2635 2 22208254 22242583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1483 S 9 1 0 "" NA19240 dgv212n21 2 22255766 22260839 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524414,nsv524885 M 2026 0 2 "" nsv214479 2 22335788 22335788 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233057 M 24 "" nsv213896 2 22359573 22359660 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232474 M 24 "" nsv819882 2 22381401 22381423 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418886 S 2 1 0 "" AK1 nsv520667 2 22475673 22492691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697547 S 2026 0 1 "" dgv616n67 2 22541826 22543499 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828598,nsv828620,nsv828609 M 31 0 13 "" AK12,AK16,AK18,AK2,NA18542,NA18552,NA18564,NA18949,NA18968,NA18969,NA18972,NA18973,NA18999 nsv821158 2 22541826 22543559 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420092 S 1 0 1 "" NA10851 esv23942 2 22542015 22543447 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19825 S 451 1 0 "" NA19108 nsv828631 2 22542707 22543354 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435708,nssv1428088,nssv1421517,nssv1438003 M 31 0 4 "" AK10,NA18566,NA18951,NA18997 esv269730 2 22559807 22560808 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510207,essv2508820,essv2500304,essv2493817,essv2505371,essv2505784,essv2513435,essv2504661,essv2506741,essv2499042,essv2510871,essv2498703 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12878,NA12891,NA18517,NA18853,NA18861,NA18907,NA19099,NA19108,NA19114,NA19116,NA19138 esv272567 2 22559814 22560871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581948,essv2582414 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv1160e1 2 22667644 22844546 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20161,essv12519,essv697,essv21288,essv22568,essv6045,essv20114,essv5226,essv314,essv13758,essv10470,essv18199,essv21465,essv3053,essv14346,essv6381,essv2794,essv40,essv8428,essv20441,essv2615,essv18348,essv1270,essv24959,essv9461,essv1766,essv24064,essv3707,essv21858,essv8744,essv2495,essv22072,essv16740,essv1363,essv7198,essv23189,essv13151,essv10370,essv6172,essv19596,essv15239,essv6313,essv4593,essv6680,essv14524,essv10854,essv16151,essv7524,essv24427,essv4827,essv463,essv20298,essv8157,essv8800,essv6817,essv12668,essv9213,essv21400,essv15132,essv15799,essv4912,essv16933,essv9013,essv5538,essv15594,essv1635,essv16429,essv1884,essv8317,essv6624,essv7401,essv7311,essv9984,essv12596,essv2176,essv7847,essv4406,essv13569,essv14785,essv4987,essv22959,essv176,essv7766,essv4301,essv24010,essv24271,essv4033,essv23450,essv22426,essv21734,essv13464,essv20793,essv7064,essv20923,essv23346,essv17053,essv9352,essv19209,essv3817,essv16872,essv24534,essv13908,essv17590,essv22854,essv23049,essv5040,essv6882,essv24714,essv22485,essv19977,essv11559,essv24762,essv8386,essv24580,essv7004,essv21240,essv22669,essv5357,essv13019,essv23661,essv23963,essv7702,essv18648,essv14125,essv21115,essv15305,essv9773,essv19549,essv3294,essv14998,essv5717,essv11203,essv19782,essv19169,essv4760,essv16550,essv21967,essv22113,essv17716,essv15622,essv17776,essv19465,essv21507,essv11093,essv12742,essv17195,essv18734,essv18244,essv17886,essv16192,essv1437,essv13626,essv12194,essv3361,essv21331,essv15879,essv23123,essv2008,essv12314,essv22767,essv24147,essv12861,essv20676,essv17628,essv2864,essv6228,essv14433,essv16021,essv22345,essv9922,essv2699,essv3747,essv18379,essv23607,essv1102,essv3541,essv2299,essv17232,essv10939,essv11753,essv15477,essv3104,essv22193,essv23815,essv3951,essv338,essv10337,essv21002,essv5823 M 271 0 0 "" NA06985,NA06991,NA07019,NA07345,NA07348,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10854,NA10855,NA10856,NA10857,NA10859,NA10860,NA10861,NA10863,NA11829,NA11830,NA11832,NA11839,NA11840,NA11882,NA11992,NA11994,NA11995,NA12003,NA12006,NA12044,NA12057,NA12144,NA12146,NA12154,NA12155,NA12156,NA12234,NA12248,NA12249,NA12707,NA12716,NA12717,NA12740,NA12750,NA12752,NA12753,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18508,NA18515,NA18516,NA18524,NA18529,NA18532,NA18537,NA18540,NA18542,NA18545,NA18547,NA18558,NA18561,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18593,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18623,NA18633,NA18635,NA18636,NA18637,NA18853,NA18854,NA18858,NA18859,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18914,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18952,NA18953,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18975,NA18976,NA18978,NA18981,NA18987,NA18990,NA18991,NA18995,NA18997,NA19003,NA19007,NA19092,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19144,NA19145,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19222,NA19223 nsv428379 2 22667644 22844546 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453598,nssv453664,nssv453642,nssv453609,nssv453587,nssv453620,nssv453653,nssv453675,nssv453631 M 62 0 9 "" HGDP00450,HGDP00463,HGDP00471,HGDP00984,HGDP01088,HGDP01094,NA19096,NA19113,NA19147 dgv1161e1 2 22667644 22973524 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv80,essv24861 M 271 0 0 "" NA07000 nsv508078 2 22685573 22691573 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622334,nssv618535 M 4 0 2 "" CHM,NA10860 esv1724667 2 22693728 22693777 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930742 S 2 0 1 "" HuRef nsv526638 2 22746143 22751220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702960 S 2026 0 1 "" esv269147 2 22794062 22794147 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517348 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv819850 2 22868464 22948733 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418760 S 2 1 0 "" AK1 nsv873729 2 22951846 23218216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499063 S 6533 0 1 "" SP50574 nsv833559 2 22973524 23167454 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441809 S 95 1 0 "" nsv828642 2 23005834 23006394 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427324 S 31 1 0 "" AK8 esv29584 2 23007372 23013257 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13328 S 451 1 0 "" NA12239 nsv526488 2 23008718 23036066 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702797 S 2026 1 0 "" nsv2636 2 23024221 23055660 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4405,nssv2252,nssv6822,nssv5778 M 9 4 0 "" NA12156,NA12878,NA18555,NA19129 nsv522258 2 23039477 23054915 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695038 S 2026 0 1 "" nsv508830 2 23042947 23048933 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621162,nssv623861 M 4 2 0 "" NA15510,NA18994 esv1004553 2 23044465 23045180 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564233 S 3 1 0 "" HuRef esv274282 2 23044482 23050561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581932,essv2583250,essv2584847,essv2583860 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv268566 2 23044485 23050573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575896,essv2540778,essv2546267,essv2521404,essv2542288,essv2536506,essv2568129,essv2545347,essv2523399,essv2577568,essv2570447,essv2535337,essv2547204,essv2558345,essv2564336,essv2565382,essv2576376,essv2554932,essv2561900,essv2537389,essv2546815,essv2557172,essv2552342,essv2551678,essv2578797,essv2558718,essv2563036,essv2523889,essv2553027,essv2542987,essv2540284,essv2524336,essv2565073,essv2534651,essv2560996,essv2539704,essv2549308,essv2519860,essv2522085,essv2532842,essv2567998,essv2528793,essv2567362,essv2570294,essv2553446,essv2535784,essv2572571,essv2559326,essv2566770,essv2528139,essv2539432,essv2578339,essv2572991,essv2534462,essv2577146,essv2572117,essv2529651,essv2560655,essv2530438,essv2545715,essv2574241,essv2536223,essv2537873,essv2533107,essv2554679,essv2563335 M 157 66 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA10847,NA11830,NA11831,NA11881,NA11894,NA11919,NA11920,NA11995,NA12003,NA12004,NA12043,NA12044,NA12249,NA12717,NA12750,NA12751,NA12812,NA12814,NA12872,NA12874,NA12878,NA12892,NA18501,NA18502,NA18504,NA18510,NA18516,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18576,NA18577,NA18579,NA18582,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18907,NA18912,NA18940,NA18942,NA18959,NA18970,NA18973,NA19093,NA19116,NA19141,NA19239,NA19240 nsv508715 2 23130524 23213334 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619028 S 4 0 1 "" NA10860 nsv873730 2 23142619 23753312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514841 S 6533 1 0 KLHL29 SP56085 nsv2637 2 23205695 23273264 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5779,nssv7470 M 9 0 2 "" NA12156,NA19129 nsv2638 2 23213790 23239837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1484 S 9 1 0 "" NA19240 esv22439 2 23299931 23300446 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20536 S 451 1 0 "" NA12749 nsv515556 2 23321589 23321812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687962,nssv663479,nssv673435,nssv663894,nssv662047,nssv677530,nssv677361 M 2026 0 7 "" esv2235479 2 23441461 23441876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524868 S 1 0 1 "" NA18507 esv2589962 2 23444077 23445554 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247360 S 1 0 1 "" NA18507 esv27159 2 23461251 23463440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10628 S 451 0 1 KLHL29 NA07045 esv2552237 2 23498356 23498413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383646 S 1 0 1 KLHL29 NA18507 nsv833570 2 23515057 23693621 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441810 S 95 1 0 KLHL29 esv9475 2 23551729 23551817 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31916 S 1 1 0 KLHL29 SJK nsv873731 2 23565513 23708401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546485 S 6533 0 1 KLHL29 MS17208 nsv873732 2 23621300 23775888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530451 S 6533 0 1 KLHL29 MS10311 nsv214546 2 23629154 23634784 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233124 M 24 KLHL29 esv2639907 2 23655992 23657547 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304181 S 1 0 1 KLHL29 NA18507 esv1295316 2 23657026 23657329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248101 S 2 0 1 KLHL29 HuRef nsv2639 2 23688241 23720572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2253 S 9 1 0 KLHL29 NA18555 nsv527636 2 23708401 23887682 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704105 S 2026 1 0 ATAD2B,KLHL29 nsv455886 2 23713681 23783483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533345 S 1557 0 1 KLHL29 NINDS_111 nsv2640 2 23826673 23840928 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6823 S 9 0 1 ATAD2B NA12156 esv33590 2 23837535 23847871 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93601 S 51 0 1 ATAD2B 21972 nsv214066 2 23882183 23884189 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232644 M 24 ATAD2B esv1350131 2 23884497 23884497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4250728 S 2 1 0 ATAD2B HuRef nsv524917 2 23902957 23966858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700929 S 2026 0 1 ATAD2B nsv511769 2 23920633 23924219 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626417 S 1 0 1 ATAD2B 1 esv1080283 2 23922681 23923223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600829 S 2 0 1 ATAD2B HuRef nsv507003 2 23975724 23981724 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621991 S 4 1 0 ATAD2B NA10860 nsv2641 2 24158246 24179748 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7472 S 9 0 1 TP53I3 NA12156 dgv4070n71 2 24161279 24405940 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873739,nsv873736,nsv873733,nsv873738,nsv873735 M 6533 5 0 C2orf84,ITSN2,LOC375190,PFN4,TP53I3 SP50179,SP52377,SP56904,SP56971,SP81459 esv32848 2 24166016 24169246 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101538,essv94774,essv97062,essv97802,essv95651,essv97291,essv101640,essv92803,essv99212,essv100259 M 51 10 0 "" 21603,21791,21817,21837,21841,21879,21909,21944,22275,22286 nsv873734 2 24169217 24241600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504118 S 6533 1 0 LOC375190,PFN4 SP52231 nsv873737 2 24177676 24309334 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508622 S 6533 1 0 C2orf84,ITSN2,LOC375190,PFN4 SP54561 nsv455897 2 24191365 24394095 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533352 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2orf84,ITSN2,LOC375190,PFN4 HGDP00811 esv2131572 2 24305229 24305671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648429 S 1 0 1 ITSN2 NA18507 esv1408843 2 24327844 24327976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794879 S 2 0 1 ITSN2 HuRef esv259672 2 24340980 24341246 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396088,essv2399397,essv2395665,essv2396483,essv2395695,essv2398850,essv2394673,essv2397479,essv2394585,essv2398381,essv2401029,essv2396378 M 144 0 0 Samples from several populations that are part of the HapMap project. ITSN2 NA07346,NA12287,NA18501,NA18517,NA18532,NA18582,NA18870,NA18947,NA18965,NA19093,NA19099,NA19138 esv1382590 2 24341092 24341092 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686857 S 2 1 0 ITSN2 HuRef nsv873740 2 24343917 24405940 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508606 S 6533 1 0 ITSN2 SP54561 nsv2642 2 24433642 24469777 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9565 S 9 0 1 ITSN2 NA18507 dgv57n17 2 24451783 24473387 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437279,nsv437281,nsv437282 M 60 0 3 "" NA18506,NA18854,NA19205 nsv9469 2 24452381 24467232 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25442 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 esv992152 2 24452739 24465617 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563780 S 3 0 1 "" HuRef esv2462713 2 24453275 24465942 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170601 S 1 0 1 "" NA18507 esv2533662 2 24453309 24463778 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165263 S 1 0 1 "" NA18507 nsv498915 2 24453457 24465033 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585776 S 9 0 1 "" esv22313 2 24453732 24464909 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11800 S 451 0 3 "" NA11931,NA18907,NA19190 dgv78e180 2 24454358 24464596 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009168,esv1002578 M 3 0 1 "" HuRef esv2422060 2 24455015 24465231 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107827,essv5090720,essv5151205,essv5068166,essv5082809,essv5035809,essv5143539,essv5043588,essv5154155,essv5087493,essv5120090,essv5033310,essv5011065,essv5043917,essv5149826,essv5154235,essv5122240,essv5020989,essv5091289,essv5116462,essv5041979,essv5019329,essv5066459,essv5102864,essv5002674,essv5005102,essv5006541,essv5020279,essv5152649,essv5007191,essv5094501,essv5111136,essv5045242,essv5047116,essv5111016,essv5145567,essv5106113,essv5074884,essv5147898,essv5134201,essv5080465,essv5030969,essv5061737,essv5055975,essv5130800,essv5067837,essv5070662,essv5033511,essv5061310,essv5064405,essv5013138,essv5055332,essv5099075,essv5113705,essv5123355,essv5125555,essv5022479,essv5131291,essv5042978,essv5003859,essv5048958,essv5034073,essv5012246,essv5043717,essv5035000,essv5126482,essv5118313,essv5082463,essv5052607,essv5043991,essv5141347,essv5117422,essv5097381,essv5060240,essv5138193,essv5104971,essv5136564,essv5141639,essv5132993,essv5143876,essv5139187,essv5013069,essv5068311,essv5075845,essv5133470,essv5101415,essv5129420 M 1184 0 87 "" NA06991,NA06993,NA07056,NA07435,NA10840,NA10845,NA10863,NA11843,NA11931,NA12234,NA12286,NA12752,NA12760,NA12766,NA12775,NA17981,NA17982,NA18133,NA18157,NA18160,NA18166,NA18506,NA18507,NA18559,NA18596,NA18645,NA18694,NA18704,NA18852,NA18854,NA18924,NA18925,NA18957,NA18959,NA18987,NA18995,NA19074,NA19083,NA19171,NA19175,NA19179,NA19182,NA19183,NA19185,NA19186,NA19189,NA19190,NA19191,NA19204,NA19226,NA19308,NA19372,NA19399,NA19439,NA19445,NA19455,NA19457,NA19469,NA19470,NA19916,NA19917,NA19918,NA19982,NA19983,NA20287,NA20332,NA20333,NA20343,NA20524,NA20785,NA20810,NA20858,NA20871,NA20876,NA20877,NA20902,NA20908,NA21097,NA21118,NA21119,NA21356,NA21384,NA21386,NA21388,NA21716,NA21718,NA21719 esv33087 2 24455351 24462660 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101109,essv98949,essv96449 M 51 0 3 "" 21618,21938,22261 nsv438226 2 24455943 24459556 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470274,nssv470263,nssv470241,nssv470297,nssv470285,nssv470252 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18506,NA18507,NA18852,NA18854,NA19204,NA19205 nsv514055 2 24457024 24459936 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628192 S 1414 0 1 "" nsv442682 2 24460486 24464632 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1286060 2 24494274 24494274 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887929 S 2 1 0 "" HuRef esv23478 2 24567185 24568562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13470 S 451 0 2 "" NA07045,NA12489 nsv528347 2 24582922 24623319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704931 S 2026 0 1 "" esv1073266 2 24593365 24593365 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594202 S 2 1 0 "" HuRef nsv516493 2 24637672 24797476 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690268,nssv655364,nssv669803,nssv668678,nssv679231,nssv703000 M 2026 6 0 NCOA1 nsv873741 2 24713371 24777942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515393 S 6533 0 1 NCOA1 SP56185 nsv528864 2 24725967 24800554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705544 S 2026 0 1 NCOA1 nsv2643 2 24790221 24824595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3013 S 9 1 0 NCOA1 NA18555 esv1430695 2 24827388 24827942 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029242 S 2 0 1 NCOA1 HuRef nsv508831 2 24863461 24933934 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623862 S 4 1 0 ADCY3,CENPO,PTRHD1 NA18994 nsv873742 2 24899859 25011785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546486 S 6533 0 1 ADCY3 MS17208 nsv2645 2 24910814 24955178 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2254 S 9 0 1 ADCY3 NA18555 nsv2646 2 24978196 25011308 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2255 S 9 1 0 ADCY3 NA18555 esv989967 2 24986596 24999044 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564303 S 3 0 1 ADCY3 HuRef nsv524979 2 24992491 25011785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701008 S 2026 0 1 ADCY3 esv25364 2 24995947 24997312 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13166 S 451 0 2 "" NA07045,NA12489 nsv517715 2 25007490 25011785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683080,nssv663759,nssv689673,nssv668453,nssv678075,nssv660934,nssv691423,nssv678301,nssv657047,nssv679900,nssv693498,nssv689977,nssv674566,nssv693831,nssv652935,nssv672241 M 2026 0 16 "" nsv524772 2 25007490 25014247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700763 S 2026 0 1 "" esv2552379 2 25080623 25082094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383873 S 1 0 1 DNAJC27-AS1 NA18507 esv2106301 2 25080981 25081630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502336 S 1 0 1 DNAJC27-AS1 NA18507 esv3594 2 25081026 25081688 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26035 S 1 0 1 Single Asian sample YH DNAJC27-AS1 YH esv8717 2 25081127 25081461 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31158 S 1 0 1 DNAJC27-AS1 SJK esv1663408 2 25081133 25081448 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872967 S 2 0 1 DNAJC27-AS1 HuRef dgv57n68 2 25117846 25333397 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833581,nsv833592 M 95 0 2 DNMT3A,EFR3B,POMC esv33372 2 25140708 25462320 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98854,essv99882 M 51 0 2 DNMT3A,DTNB,EFR3B,MIR1301,POMC 21606,22086 nsv2647 2 25143046 25167692 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6824 S 9 1 0 EFR3B NA12156 esv24844 2 25148155 25152249 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18607 S 451 1 0 EFR3B NA12156 esv1006182 2 25170418 25184363 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563648 S 3 0 0 EFR3B HuRef nsv455908 2 25272977 25347978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533361 S 1557 0 1 DNMT3A NINDS_31 nsv828653 2 25389655 25448470 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434920 S 31 0 1 DNMT3A,MIR1301 NA18942 esv27729 2 25416335 25419204 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14787 S 451 0 5 DNMT3A NA07045,NA12489,NA18508,NA19190,NA19257 esv2573580 2 25416830 25418832 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247294 S 1 0 1 DNMT3A NA18507 esv988737 2 25417196 25418944 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586515 S 3 0 1 DNMT3A HuRef nsv511770 2 25429658 25431295 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626418 S 1 0 1 "" 1 esv4217 2 25457092 25457315 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26658 S 1 0 1 Single Asian sample YH DTNB YH nsv512768 2 25475167 25476187 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625398 S 1 1 0 DTNB 1 esv33756 2 25480886 25482614 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99785 S 51 1 0 DTNB 22086 esv33316 2 25516390 26749172 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100757 S 51 0 1 ASXL2,C2orf70,CCDC164,CIB4,DTNB,EPT1,FAM59B,GPR113,HADHA,HADHB,KIF3C,OTOF,RAB10 21656 nsv819351 2 25657039 25657256 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419281 S 2 1 0 DTNB AK1 nsv873743 2 25675193 25866684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560740 S 6533 0 1 ASXL2,DTNB MS24690 esv25482 2 25749422 25750524 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15197 S 451 0 2 DTNB NA07045,NA12489 nsv508716 2 25840953 25845447 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622806 S 4 0 1 ASXL2 NA18994 nsv873744 2 25898711 26030702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560741 S 6533 0 1 ASXL2,KIF3C MS24690 nsv873745 2 25989756 26079784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539201 S 6533 1 0 KIF3C MS14258 nsv873746 2 26036646 26216019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534402,nssv1538363 M 6533 2 0 KIF3C,RAB10 MS11565,MS13712 nsv215114 2 26051414 26052330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233692 M 24 KIF3C nsv508717 2 26119498 26208349 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619029 S 4 0 1 RAB10 NA10860 nsv873747 2 26155665 26316234 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597198 S 6533 1 0 FAM59B,HADHA,RAB10 IS40762 nsv508079 2 26229645 26235645 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624266,nssv622335,nssv618536,nssv621519 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv442684 2 26230008 26232251 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv520638 2 26246245 26266872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688662,nssv673404,nssv679232,nssv703509 M 2026 0 4 FAM59B nsv524918 2 26246245 26269540 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700930 S 2026 1 0 FAM59B,HADHA esv22083 2 26249115 26249834 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14963 S 451 0 1 FAM59B NA07045 nsv873748 2 26252718 26269540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509772 S 6533 0 1 FAM59B,HADHA SP54956 nsv2648 2 26254213 26299148 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7473 S 9 0 1 FAM59B,HADHA NA12156 esv267941 2 26327417 26327760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515950,essv2517789 M 157 2 0 Samples from several populations that are part of the HapMap project. HADHB NA12873,NA12878 esv273638 2 26327417 26327760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581416 S 7 1 0 Samples from several populations that are part of the HapMap project. HADHB NA12878 esv1501344 2 26327450 26327450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715510 S 2 1 0 HADHB HuRef nsv508832 2 26394866 26432816 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623863 S 4 1 0 EPT1,GPR113 NA18994 nsv2649 2 26399757 26415858 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10207,nssv7474 M 9 2 0 GPR113 NA12156,NA18956 esv1009939 2 26408998 26410164 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565809 S 3 1 0 GPR113 HuRef esv1067506 2 26409805 26409805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225868 S 2 1 0 GPR113 HuRef nsv2650 2 26417396 26436915 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4406 S 9 1 0 EPT1,GPR113 NA12878 esv271484 2 26477150 26477497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516796,essv2519187,essv2517051,essv2518754,essv2515036,essv2517984,essv2514340,essv2517607,essv2519415 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11894,NA11931,NA12045,NA12812,NA12872,NA12874,NA12878 esv274254 2 26477150 26477497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581492 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv873749 2 26506961 26609055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558650 S 6533 0 1 CCDC164,OTOF MS23472 nsv517800 2 26525518 26693996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695203 S 2026 0 1 C2orf70,CCDC164,CIB4,OTOF nsv819195 2 26536882 26538135 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419213 S 2 1 0 OTOF AK1 nsv455941 2 26577231 26595055 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533389 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OTOF HGDP00491 nsv455952 2 26595055 26601802 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533400 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OTOF HGDP00417 nsv817662 2 26629631 26631917 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417314 S 112 0 1 OTOF NA18608 nsv2651 2 26707536 26749383 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7475 S 9 0 1 CIB4 NA12156 nsv523435 2 26724737 26782315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699190 S 2026 0 1 KCNK3 dgv4071n71 2 26727176 26810900 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873750,nsv873751 M 6533 0 2 KCNK3 IS32891,MS14359 nsv508833 2 26729008 26837456 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621163 S 4 1 0 KCNK3 NA15510 nsv522805 2 26748093 26782315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698450 S 2026 0 1 KCNK3 esv26532 2 26768537 26769741 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15500 S 451 0 1 KCNK3 NA07045 nsv2652 2 26772984 26800111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10208 S 9 1 0 KCNK3 NA18956 esv1018822 2 26790841 26790841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906740 S 2 1 0 KCNK3 HuRef esv989007 2 26790841 26792588 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564082 S 3 1 0 KCNK3 HuRef nsv2653 2 26804857 26829003 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9343 S 9 1 0 KCNK3 NA18517 esv1009796 2 26927707 26927707 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572218 S 3 1 0 DPYSL5 HuRef nsv214236 2 26927709 26927709 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232814 M 24 DPYSL5 esv1993351 2 26963871 26964336 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512291 S 1 0 1 DPYSL5 NA18507 esv275060 2 27003940 27010912 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585130 S 1250 0 1 DPYSL5 nsv455974 2 27066147 27204783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533415 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABHD1,AGBL5,CGREF1,EMILIN1,KHK,MAPRE3,OST4,TMEM214 HGDP00859 nsv817673 2 27113973 27240303 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416302 S 112 1 0 ABHD1,AGBL5,C2orf53,CGREF1,EMILIN1,KHK,OST4,PREB,TCF23,TMEM214 NA18855 nsv833603 2 27135478 27340003 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441813 S 95 0 1 ABHD1,AGBL5,C2orf28,C2orf53,CAD,CGREF1,EMILIN1,KHK,OST4,PREB,SLC30A3,SLC5A6,TCF23 nsv873752 2 27139364 27168386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509773 S 6533 0 1 AGBL5,EMILIN1,KHK,OST4 SP54956 esv989926 2 27177759 27177809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574985 S 3 0 1 CGREF1 HuRef esv1742991 2 27177843 27177894 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096132 S 2 0 1 CGREF1 HuRef nsv873753 2 27185939 27205097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507637 S 6533 0 1 ABHD1,CGREF1 SP54725 nsv482050 2 27225506 27229237 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558411 S 1 1 0 TCF23 KB1 nsv873754 2 27281799 27531195 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585802,nssv1543377 M 6533 0 2 C2orf28,CAD,DNAJC5G,EIF2B4,FTH1P3,GTF3C2,IFT172,KRTCAP3,LOC100505624,MPV17,NRBP1,PPM1G,SLC30A3,SLC5A6,SNX17,TRIM54,UCN,ZNF513 IS37646,MS16153 esv275571 2 27293255 27295408 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585831 S 1250 0 1 C2orf28,CAD nsv833614 2 27339931 27528584 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441814 S 95 1 0 DNAJC5G,EIF2B4,FTH1P3,GTF3C2,IFT172,KRTCAP3,LOC100505624,MPV17,NRBP1,PPM1G,SNX17,TRIM54,UCN,ZNF513 esv33516 2 27374738 27383640 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93886,essv98652,essv99904,essv93214,essv99665 M 51 5 0 TRIM54 21634,22085,22086,22170,22217 esv2571212 2 27380338 27380997 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386793 S 1 1 0 TRIM54 NA18507 nsv2654 2 27385815 27413141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1485 S 9 1 0 GTF3C2,LOC100505624,MPV17 NA19240 dgv4072n71 2 27432735 27460466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873755,nsv873756 M 6533 0 3 EIF2B4,GTF3C2,PPM1G,SNX17,ZNF513 SP54725,SP54988,SP55021 nsv873757 2 27445927 27460466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509774 S 6533 0 1 EIF2B4,PPM1G,SNX17,ZNF513 SP54956 nsv817684 2 27510671 27700107 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416303 S 112 1 0 C2orf16,FNDC4,GCKR,IFT172,KRTCAP3,NRBP1,ZNF512 NA18855 esv267441 2 27515965 27516050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514015 S 157 1 0 Samples from several populations that are part of the HapMap project. NRBP1 NA19143 esv2422070 2 27618812 27633022 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033372,essv5067902,essv5090217,essv5082869,essv5092773,essv5058538,essv5145027,essv5051467,essv5118032,essv5094701,essv5102563,essv5138629,essv5076560 M 1184 0 13 "" NA18485,NA18487,NA19096,NA19210,NA19214,NA19328,NA19375,NA19448,NA19451,NA19466,NA19469,NA20322,NA21528 esv1599518 2 27825637 27825637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934776 S 2 1 0 "" HuRef nsv507004 2 27890667 27896667 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620713 S 4 1 0 RBKS NA15510 nsv873758 2 27899532 28004858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514678 S 6533 0 1 BRE,LOC100302650,RBKS SP56047 esv268461 2 27907561 27907887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2554076,essv2537244,essv2528294,essv2578610,essv2561688,essv2568881,essv2543615,essv2539411,essv2572886,essv2568831,essv2571402,essv2545946,essv2574421 M 157 13 0 Samples from several populations that are part of the HapMap project. RBKS NA12287,NA12878,NA12891,NA18510,NA18523,NA18861,NA18870,NA18912,NA19143,NA19147,NA19238,NA19239,NA19240 esv274540 2 27907563 27907885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581781,essv2582512,essv2584012,essv2584597,essv2583352 M 7 5 0 Samples from several populations that are part of the HapMap project. RBKS NA12878,NA12891,NA19238,NA19239,NA19240 nsv873759 2 27911327 28089267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577853 S 6533 0 1 BRE,LOC100302650,MIR4263,RBKS IS34599 dgv1162e1 2 27914840 28078134 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv276,essv6814 M 271 0 0 BRE,LOC100302650,MIR4263,RBKS NA18579 nsv873760 2 27935134 28042784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570563 S 6533 0 1 BRE,LOC100302650,RBKS IS32167 nsv873761 2 27967415 28089267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567633 S 6533 0 1 BRE,LOC100302650,MIR4263 IS31137 esv271229 2 27986650 27986793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511867,essv2494242,essv2501130,essv2498653 M 157 4 0 Samples from several populations that are part of the HapMap project. BRE NA18499,NA18502,NA18516,NA19138 nsv873762 2 27989855 28066928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576112 S 6533 0 1 BRE IS33878 esv33936 2 28046586 28053465 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97485 S 51 0 1 BRE 21616 esv2470846 2 28206491 28208119 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245718 S 1 0 1 BRE NA18507 esv2252743 2 28207239 28207947 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946561 S 1 0 1 BRE NA18507 esv3893 2 28207391 28208055 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26334 S 1 0 1 Single Asian sample YH BRE YH nsv516533 2 28227056 28229276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670348,nssv684317,nssv668924,nssv654523,nssv678943 M 2026 0 5 BRE nsv527688 2 28227056 28233480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704164 S 2026 0 1 BRE nsv215424 2 28324598 28325461 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234002 M 24 BRE esv9589 2 28364232 28364308 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32030 S 1 1 0 BRE SJK nsv873763 2 28374561 28488294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558704 S 6533 0 1 BRE,FOSL2,LOC100505716 MS23495 nsv873764 2 28393648 28437819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546487 S 6533 0 1 BRE MS17208 nsv819706 2 28401649 28403902 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419409 S 2 1 0 BRE AK1 nsv833625 2 28405199 28432180 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441832,nssv1441823,nssv1441831,nssv1441817,nssv1441833,nssv1441819,nssv1441830,nssv1441816,nssv1441820,nssv1441822,nssv1441821,nssv1441826,nssv1441824,nssv1441825,nssv1441834,nssv1441815,nssv1441828,nssv1441827 M 95 0 18 BRE nsv520154 2 28423902 28424525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697252 S 2026 0 1 "" nsv828664 2 28468060 28470411 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423191 S 31 1 0 FOSL2 NA18999 nsv511771 2 28533595 28536043 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626419 S 1 0 1 "" 1 esv2604455 2 28534560 28536252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282545 S 1 0 1 "" NA18507 esv991671 2 28534659 28535648 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564234 S 3 0 1 "" HuRef esv1601501 2 28535178 28535666 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645611 S 2 0 1 "" HuRef nsv512769 2 28536856 28537708 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625400 S 1 1 0 "" 1 esv1187433 2 28542437 28542493 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698124 S 2 0 1 "" HuRef nsv470446 2 28589502 28621931 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547175 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLB1 HGDP00863 nsv455985 2 28590086 28622785 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533423 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLB1 HGDP00863 nsv517970 2 28692031 28709724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695382 S 2026 0 1 PLB1 nsv521405 2 28711863 28730510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698015 S 2026 0 1 PLB1 nsv527580 2 28720705 28725189 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704041 S 2026 0 1 "" nsv2656 2 28755590 28780449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9344 S 9 1 0 "" NA18517 nsv819532 2 28926403 28927303 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419113 S 2 0 1 SPDYA,TRMT61B AK1 nsv518751 2 28937354 28954146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696200 S 2026 1 0 TRMT61B nsv817695 2 28937354 29017526 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416304 S 112 1 0 SNORD53,SNORD92,TRMT61B,WDR43 NA18855 esv29033 2 28938627 28940827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12818 S 451 0 1 TRMT61B NA19099 nsv828675 2 28961276 28970306 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431142 S 31 0 1 "" AK18 esv1693261 2 29015330 29015512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222213 S 2 0 1 WDR43 HuRef dgv1163e1 2 29030000 30392933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv711,essv6824,essv5637 M 271 0 0 ALK,C2orf71,CLIP4,FAM179A,LBH,YPEL5 NA18579 esv34904 2 29055853 30360853 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979605,essv6990385,essv6986903,essv6979606,essv6979604 M 771 1 0 ALK,C2orf71,CLIP4,FAM179A,LBH,YPEL5 NA18579 dgv213n21 2 29067797 29101398 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525563,nsv523661 M 2026 0 2 FAM179A esv4275 2 29081183 29082266 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26716 S 1 0 1 Single Asian sample YH FAM179A YH esv2162111 2 29081784 29082217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791685 S 1 0 1 FAM179A NA18507 esv7077 2 29081828 29082551 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29518 S 1 0 1 FAM179A SJK esv1152713 2 29082004 29082073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241768 S 2 0 1 FAM179A HuRef nsv525642 2 29083310 29092110 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701796 S 2026 1 0 FAM179A nsv528652 2 29083310 29099437 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705285 S 2026 1 0 FAM179A nsv2657 2 29098850 29143442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4650 S 9 0 1 C2orf71,FAM179A NA19129 esv1687880 2 29162311 29162372 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039236 S 2 0 1 "" HuRef esv27586 2 29191462 29192349 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9899 S 451 0 1 CLIP4 NA07045 nsv2658 2 29212955 29257933 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7476 S 9 0 1 CLIP4 NA12156 nsv438237 2 29265627 29280442 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470308 S 269 0 1 Samples from several populations that are part of the HapMap project. ALK NA18579 nsv455997 2 29266815 29278219 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533432 S 1557 0 1 ALK NINDS_74 nsv524336 2 29387669 29398280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700243 S 2026 0 1 ALK nsv525718 2 29391915 29392821 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701881 S 2026 0 1 ALK nsv456008 2 29430909 29449992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533436 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALK HGDP01310 dgv4073n71 2 29430909 29452886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873766,nsv873767,nsv873765 M 6533 0 5 ALK SP52130,SP52400,SP55150,SP81135,SP81144 nsv438248 2 29490544 29508457 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470319 S 269 0 1 Samples from several populations that are part of the HapMap project. ALK NA18579 nsv9480 2 29494450 29499162 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28109 S 31 0 1 Samples from several populations that are part of the HapMap project. ALK NA19173 esv23879 2 29495174 29498745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17361 S 451 0 2 ALK NA18909,NA18916 nsv817706 2 29495378 29496836 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416531,nssv1416532 M 112 0 2 ALK NA19172,NA19173 esv2421745 2 29495378 29498441 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135974,essv5124924,essv5055156,essv5154308,essv5073733,essv5132399,essv5086407,essv5068160,essv5153183,essv5159702,essv5074399,essv5035566,essv5020859,essv5160486,essv5063512,essv5058288,essv5055914,essv5005384,essv5130060,essv5022552,essv5089715,essv5120350,essv5118200,essv5020820,essv5156253,essv5065811,essv5004271,essv5038135,essv5040522,essv5016800,essv5117985,essv5020917,essv5004212,essv5074446,essv5030563,essv5120720,essv5126307,essv5113479,essv5013806,essv5009695,essv5142654,essv5050821,essv5081100,essv5035738,essv5015624,essv5160143 M 1184 0 46 ALK NA12843,NA18497,NA18499,NA18867,NA18868,NA18869,NA18909,NA18911,NA18913,NA18916,NA18924,NA18925,NA18930,NA19027,NA19101,NA19172,NA19173,NA19184,NA19189,NA19204,NA19214,NA19215,NA19226,NA19309,NA19315,NA19324,NA19384,NA19390,NA19391,NA19404,NA19429,NA19437,NA19446,NA19452,NA19762,NA19916,NA19918,NA20300,NA20357,NA20358,NA21359,NA21447,NA21475,NA21489,NA21528,NA21716 nsv515557 2 29495378 29499722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665124,nssv693241,nssv676180,nssv680433,nssv672866,nssv664709,nssv703312,nssv663578,nssv663895,nssv668591,nssv684362,nssv664985,nssv660896,nssv665446,nssv659016,nssv666000,nssv681507,nssv659780,nssv661906,nssv659338,nssv684166,nssv661298,nssv684997,nssv676083,nssv692125,nssv654289,nssv673676,nssv671941 M 2026 0 28 ALK nsv441750 2 29495382 29497726 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ALK nsv514056 2 29495834 29497710 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628203 S 1414 0 1 ALK esv271348 2 29498632 29504699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530506,essv2556852,essv2534794,essv2556444,essv2529711,essv2572722 M 157 6 0 Samples from several populations that are part of the HapMap project. ALK NA18486,NA18501,NA18561,NA18871,NA19093,NA19143 esv271041 2 29659896 29660232 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514637,essv2517536,essv2514745,essv2516004,essv2517717,essv2518270 M 157 6 0 Samples from several populations that are part of the HapMap project. ALK NA11840,NA11918,NA12234,NA12873,NA12878,NA19240 esv274310 2 29659896 29660232 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581427,essv2581204 M 7 2 0 Samples from several populations that are part of the HapMap project. ALK NA12878,NA19240 nsv2659 2 29688299 29721491 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1486 S 9 1 0 ALK NA19240 nsv433197 2 29692287 29716419 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463078 S 9 0 1 Samples from several populations that are part of the HapMap project. ALK NA18517 esv990532 2 29700504 29700504 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585109 S 3 1 0 ALK HuRef esv1191389 2 29700505 29700505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086034 S 2 1 0 ALK HuRef nsv833636 2 29717494 29874258 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441835 S 95 1 0 ALK nsv2660 2 29807239 29842033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4407 S 9 1 0 ALK NA12878 esv29115 2 29811541 29816792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12373 S 451 0 2 ALK NA18858,NA18916 esv8173 2 29852091 29852175 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30614 S 1 1 0 ALK SJK esv4149 2 29852549 29852908 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26590 S 1 0 1 Single Asian sample YH ALK YH nsv471776 2 29852709 29852817 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646057 M 2.906 95 ALK esv1273908 2 29852731 29852806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142107 S 2 0 1 ALK HuRef nsv2661 2 29967808 30013717 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6825 S 9 0 1 ALK NA12156 esv270240 2 29990241 29990621 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494660,essv2505737,essv2493961,essv2509267 M 157 4 0 Samples from several populations that are part of the HapMap project. ALK NA18519,NA18861,NA18871,NA18909 esv23702 2 30005157 30006541 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15719 S 451 1 0 "" NA12828 nsv438259 2 30016656 30034161 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470330 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18579 esv2525255 2 30017844 30018686 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351378 S 1 1 0 "" NA18507 nsv438270 2 30109116 30121546 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470341 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18579 esv29927 2 30223606 30224411 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17078 S 451 0 1 YPEL5 NA07045 nsv873768 2 30257266 30289753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597859 S 6533 1 0 "" IS40812 nsv438281 2 30260406 30271798 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470352 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18579 nsv2662 2 30316409 30348638 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7477 S 9 0 1 LBH NA12156 nsv833648 2 30359386 30549779 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441836 S 95 1 0 LCLAT1 nsv2663 2 30376254 30421048 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7479 S 9 0 1 "" NA12156 nsv873769 2 30439142 30478768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558539,nssv1577251 M 6533 0 2 "" IS34400,MS23340 esv1010639 2 30446604 30451915 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564103 S 3 0 1 "" HuRef esv28005 2 30468878 30481277 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11669 S 451 0 1 "" NA12776 esv271415 2 30523461 30523794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521219,essv2522764,essv2531723,essv2577201,essv2552101,essv2577871,essv2565435,essv2530736,essv2540096,essv2552462,essv2532172,essv2538944,essv2562974,essv2541094,essv2534762,essv2539620,essv2519511,essv2522268,essv2531145,essv2532667,essv2541593,essv2570166,essv2553352,essv2572551,essv2542059,essv2556308,essv2555238,essv2522315,essv2531311,essv2575090,essv2526346,essv2574689,essv2554349,essv2525115 M 157 34 0 Samples from several populations that are part of the HapMap project. LCLAT1 NA07346,NA07357,NA11894,NA11931,NA12006,NA12043,NA12489,NA12761,NA12812,NA12873,NA18489,NA18502,NA18505,NA18519,NA18532,NA18545,NA18561,NA18563,NA18566,NA18571,NA18573,NA18576,NA18592,NA18593,NA18605,NA18609,NA18856,NA18871,NA18943,NA18960,NA18961,NA19102,NA19114,NA19138 nsv524988 2 30712240 30713511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701017 S 2026 0 1 LCLAT1 nsv215004 2 30718793 30723039 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233582 M 24 LCLAT1 esv32718 2 30772050 30779696 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93268 S 51 1 0 "" 22170 nsv873770 2 30806491 30838354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566966 S 6533 0 1 CAPN13 IS31039 nsv520269 2 30811641 30841879 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681873,nssv662275 M 2026 2 0 CAPN13 nsv456019 2 30821732 30838354 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533442 S 1557 0 1 CAPN13 1780854485_A esv9096 2 30847556 30847613 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31537 S 1 1 0 CAPN13 SJK nsv833659 2 30874076 31025009 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441838,nssv1441837 M 95 2 0 CAPN13,GALNT14 esv275432 2 30876566 30881014 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585447 S 1250 0 1 CAPN13 esv268544 2 30911911 30912263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497150,essv2500001,essv2508282,essv2508174,essv2499293,essv2497911,essv2503461,essv2505417,essv2500524 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18558,NA18561,NA18579,NA18605,NA18945,NA18947,NA18952,NA18956 nsv828686 2 30954705 30955213 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437286 S 31 0 1 "" NA18949 esv269861 2 30963394 30963612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517012 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 esv22531 2 31123906 31127887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10373 S 451 0 1 GALNT14 NA18858 esv3567 2 31196151 31196600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26008 S 1 0 1 Single Asian sample YH GALNT14 YH esv1683223 2 31196245 31196560 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050000 S 2 0 1 GALNT14 HuRef dgv4074n71 2 31217236 31271367 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873772,nsv873771 M 6533 2 0 CAPN14 SP50624,SP56390 dgv4075n71 2 31217236 31292947 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873773,nsv873774,nsv873775 M 6533 3 0 CAPN14 MS10362,SP51311,SP55005 nsv873776 2 31237513 31292947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503731 S 6533 1 0 CAPN14 SP52095 esv24497 2 31256855 31265215 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21047 S 451 0 2 CAPN14 NA18916,NA19190 nsv523787 2 31279953 31281534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699614 S 2026 0 1 CAPN14 esv1010164 2 31289530 31293325 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586437 S 3 1 0 CAPN14 HuRef esv1127111 2 31360009 31360063 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644815 S 2 0 1 "" HuRef nsv214337 2 31360035 31360088 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232915 M 24 "" esv273011 2 31380924 31381233 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579367 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271223 2 31380931 31381211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510214,essv2500877,essv2506781,essv2499353,essv2512469,essv2510311,essv2493374,essv2508804,essv2502809,essv2513073 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA10851,NA11830,NA11918,NA11994,NA12043,NA12414,NA12776,NA12878,NA12892 esv21922 2 31390762 31391550 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10069 S 451 3 0 "" NA12004,NA12239,NA12489 nsv529012 2 31403261 31403684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705723 S 2026 0 1 "" esv2544812 2 31412546 31413460 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273526 S 1 1 0 XDH NA18507 esv271536 2 31413166 31413432 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557879,essv2575854,essv2540769,essv2571646,essv2546418,essv2521365,essv2526058,essv2542423,essv2536499,essv2523013,essv2544175,essv2556814,essv2568354,essv2545524,essv2531886,essv2577567,essv2570420,essv2521602,essv2576631,essv2550749,essv2525515,essv2535064,essv2554314,essv2544277,essv2520377,essv2547262,essv2529237,essv2558399,essv2564457,essv2577804,essv2553607,essv2559649,essv2565559,essv2576505,essv2520036,essv2563972,essv2530749,essv2561785,essv2537306,essv2528236,essv2546688,essv2540050,essv2557459,essv2557160,essv2552738,essv2551729,essv2532391,essv2562565,essv2569362,essv2578862,essv2550116,essv2558795,essv2537089,essv2538945,essv2569654,essv2527265,essv2561621,essv2544796,essv2562904,essv2523679,essv2552801,essv2541095,essv2538408,essv2543030,essv2540450,essv2524527,essv2564916,essv2534866,essv2561043,essv2539774,essv2549193,essv2519869,essv2559968,essv2521944,essv2566289,essv2530942,essv2532730,essv2567774,essv2528663,essv2567584,essv2541470,essv2569882,essv2563776,essv2553411,essv2535646,essv2572427,essv2559151,essv2566821,essv2542087,essv2551107,essv2568869,essv2543703,essv2556237,essv2528080,essv2562468,essv2539361,essv2533822,essv2578304,essv2573116,essv2533705,essv2555657,essv2567031,essv2566374,essv2530031,essv2573759,essv2527548,essv2555980,essv2534468,essv2522367,essv2531434,essv2573701,essv2543126,essv2571969,essv2525815,essv2526758,essv2529625,essv2575395,essv2575050,essv2538715,essv2526456,essv2560674,essv2524278,essv2574882,essv2572675,essv2568518,essv2560341,essv2548136,essv2549933,essv2571138,essv2546122,essv2574158,essv2551618,essv2536215,essv2537864,essv2549080,essv2533124,essv2554693,essv2548015,essv2524945,essv2563437 M 157 140 0 Samples from several populations that are part of the HapMap project. XDH NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv273424 2 31413166 31413435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582201,essv2582662,essv2583068,essv2583938,essv2584585,essv2583660 M 7 6 0 Samples from several populations that are part of the HapMap project. XDH NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv456030 2 31452327 31673760 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533453 S 1557 1 0 SRD5A2,XDH 1780854095_A nsv525643 2 31549159 31562120 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701797 S 2026 1 0 "" nsv2664 2 31563921 31587266 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6826 S 9 0 1 "" NA12156 esv999787 2 31572978 31581111 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564166 S 3 0 1 "" HuRef nsv511772 2 31578304 31581118 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626420 S 1 0 1 "" 1 nsv498916 2 31578686 31580897 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585777 S 9 0 1 "" esv2462583 2 31579125 31582297 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274496 S 1 0 1 "" NA18507 nsv2665 2 31617149 31649024 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10209 S 9 1 0 SRD5A2 NA18956 esv1971875 2 31662016 31662431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724070 S 1 0 1 "" NA18507 nsv508080 2 31663891 31669891 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622337,nssv618537,nssv624267,nssv621520 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2572272 2 31805385 31806276 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235863 S 1 1 0 "" NA18507 esv274498 2 31805668 31806010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582032,essv2582617,essv2582821,essv2584208,essv2584404,essv2583627 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv267870 2 31805671 31806013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558052,essv2565735,essv2576113,essv2540933,essv2571812,essv2546502,essv2521333,essv2525926,essv2542394,essv2536393,essv2523069,essv2543894,essv2556462,essv2568245,essv2545607,essv2523348,essv2577537,essv2570448,essv2548321,essv2521473,essv2576539,essv2535254,essv2553946,essv2544529,essv2552190,essv2520297,essv2547139,essv2558478,essv2564335,essv2577715,essv2553700,essv2559558,essv2565284,essv2576191,essv2520032,essv2564098,essv2555175,essv2530694,essv2561764,essv2537625,essv2528223,essv2546653,essv2540021,essv2557280,essv2557077,essv2552424,essv2551852,essv2532353,essv2562708,essv2569339,essv2578642,essv2558772,essv2537115,essv2538966,essv2569776,essv2527159,essv2561512,essv2544969,essv2523827,essv2552897,essv2541197,essv2538328,essv2542978,essv2540421,essv2564941,essv2534749,essv2561178,essv2539749,essv2549194,essv2519791,essv2559788,essv2522044,essv2565980,essv2530974,essv2532751,essv2567872,essv2528679,essv2567540,essv2541496,essv2569879,essv2563661,essv2553356,essv2535870,essv2572332,essv2558963,essv2566711,essv2542136,essv2551046,essv2568992,essv2543656,essv2556373,essv2527945,essv2562295,essv2578129,essv2573005,essv2533525,essv2567016,essv2566422,essv2574026,essv2527677,essv2557605,essv2534337,essv2522525,essv2573443,essv2577131,essv2571999,essv2529739,essv2575314,essv2526632,essv2560627,essv2524268,essv2560854,essv2574563,essv2530410,essv2568824,essv2545222,essv2571150,essv2545785,essv2574150,essv2551362,essv2536357,essv2537931,essv2548788,essv2533038,essv2547660,essv2525127,essv2563261 M 157 127 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18942,NA18944,NA18947,NA18948,NA18951,NA18952,NA18953,NA18959,NA18960,NA18964,NA18970,NA18973,NA19093,NA19102,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19147,NA19172,NA19238,NA19239,NA19240,NA19257 esv1492727 2 31805714 31805714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603447 S 2 1 0 "" HuRef nsv873777 2 31873251 32050627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505544 S 6533 0 1 MEMO1 SP53687 nsv508834 2 31896706 31941029 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619899 S 4 1 0 "" NA10860 esv2496642 2 31899527 31899752 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345739 S 1 1 0 "" NA18507 esv1425632 2 31899666 31899666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302225 S 2 1 0 "" HuRef esv997217 2 31901234 31904274 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563964 S 3 1 0 "" HuRef esv1564682 2 31901990 31901990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727717 S 2 1 0 "" HuRef nsv508718 2 32007719 32026314 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622807 S 4 0 1 MEMO1 NA18994 nsv820001 2 32146866 32150576 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419573 S 2 1 0 SPAST AK1 nsv828698 2 32146997 32150088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435709 S 31 1 0 SPAST NA18566 nsv833670 2 32149282 32335361 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441839 S 95 0 1 NLRC4,SLC30A6,SPAST nsv873778 2 32151488 32262511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513910 S 6533 0 1 SLC30A6,SPAST SP55878 nsv873779 2 32184389 32225749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505545 S 6533 0 1 SPAST SP53687 esv2422335 2 32265834 33054085 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161483 S 181 1 0 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,NLRC4,SLC30A6,TTC27,YIPF4 ND05052 nsv2667 2 32298314 32343259 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7480 S 9 0 1 NLRC4,SLC30A6 NA12156 esv21473 2 32332147 32333762 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12013 S 451 0 1 NLRC4 NA19099 nsv819851 2 32380057 32383495 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419541 S 2 0 1 YIPF4 AK1 nsv528463 2 32389072 32394942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705065 S 2026 0 1 "" esv2751888 2 32392740 33185053 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988645,essv6986387,essv6983265,essv6983264,essv6983263 M 771 1 0 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,TTC27 BEC_560 nsv516173 2 32394942 33183461 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696854,nssv689541,nssv693229,nssv667964,nssv666627,nssv703436,nssv687765,nssv702404,nssv678192,nssv697899 M 2026 5 5 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,TTC27 nsv873780 2 32480121 32578526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508224 S 6533 0 1 BIRC6 SP54579 dgv443n27 2 32487194 33183461 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456119,nsv456085,nsv456074,nsv456096 M 1557 4 0 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,TTC27 1780854103_A,1787431166_A,HGDP00896,NINDS_147 nsv833681 2 32505834 32668612 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441841,nssv1441842 M 95 1 1 BIRC6,MIR558 nsv470447 2 32515047 32636267 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547176 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BIRC6,MIR558 HGDP00876 nsv833692 2 32531918 32706696 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441843 S 95 0 1 BIRC6,MIR558,TTC27 esv2422472 2 32532164 33063930 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161343 S 181 1 0 BIRC6,LINC00486,LOC100271832,LTBP1,MIR4765,MIR558,TTC27 ND03627 nsv873781 2 32606514 32697274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513178 S 6533 0 1 BIRC6,MIR558 SP55694 nsv470448 2 32608490 32736700 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547177 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BIRC6,MIR4765,MIR558,TTC27 HGDP00548 nsv456108 2 32608490 32750559 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533512 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BIRC6,MIR4765,MIR558,TTC27 HGDP00548 nsv873782 2 32608613 32750559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513911 S 6533 0 1 BIRC6,MIR4765,MIR558,TTC27 SP55878 nsv873783 2 32636267 32815362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581101 S 6533 1 0 BIRC6,MIR4765,TTC27 IS35499 nsv873784 2 32663797 32777706 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549549 S 6533 1 0 BIRC6,MIR4765,TTC27 MS18263 esv2464710 2 32669555 32671039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307178 S 1 0 1 BIRC6 NA18507 nsv833703 2 32673558 32852595 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441844 S 95 0 1 BIRC6,MIR4765,TTC27 dgv4076n71 2 32763428 32807524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873785,nsv873786 M 6533 0 2 TTC27 MS25963,SP56914 esv2652244 2 32872919 32874383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287404 S 1 0 1 TTC27 NA18507 nsv873787 2 32893194 32967622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559946 S 6533 1 0 LINC00486,TTC27 MS24225 nsv2668 2 32921808 32967178 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2258 S 9 0 1 LINC00486 NA18555 nsv873788 2 32922579 33004436 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549550 S 6533 1 0 LINC00486 MS18263 nsv508719 2 32943297 32956453 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620179 S 4 0 1 LINC00486 NA15510 dgv60n16 2 32943578 32949732 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436275,nsv435731 M 2 0 2 LINC00486 NA15510,NA18505 nsv511773 2 32943649 32947293 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626422 S 1 0 1 LINC00486 1 esv2438612 2 32944334 32949600 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202085 S 1 0 1 LINC00486 NA18507 esv1004193 2 32944382 32949147 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564236 S 3 0 1 LINC00486 HuRef esv8758 2 32945236 32949124 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31199 S 1 0 1 LINC00486 SJK esv993874 2 32990389 32998378 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565526 S 3 0 1 LINC00486 HuRef nsv2669 2 32991768 33032618 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6827 S 9 0 1 LINC00486,LOC100271832,LTBP1 NA12156 esv2518901 2 32993559 32997393 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251834 S 1 0 1 LINC00486 NA18507 esv2562805 2 32994240 32997638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344691 S 1 0 1 LINC00486 NA18507 nsv511774 2 32994541 32996971 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626423 S 1 0 1 LINC00486 1 nsv2670 2 33071410 33084997 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2259 S 9 0 1 LTBP1 NA18555 nsv511178 2 33076523 33081796 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626310 S 1 0 1 LTBP1 1 nsv819533 2 33077282 33080799 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419554 S 2 0 1 LTBP1 AK1 dgv617n67 2 33077792 33079503 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828720,nsv828709 M 31 0 3 LTBP1 AK16,AK4,NA18997 dgv618n67 2 33077792 33080827 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828731,nsv828742 M 31 0 16 LTBP1 AK10,AK14,AK20,AK6,AK8,NA18547,NA18564,NA18570,NA18582,NA18592,NA18942,NA18951,NA18968,NA18969,NA18973,NA18999 nsv820846 2 33077792 33080827 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420104 S 1 0 1 LTBP1 NA10851 esv992850 2 33077915 33080645 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586497 S 3 1 0 LTBP1 HuRef nsv511775 2 33077917 33081503 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626424 S 1 0 1 LTBP1 1 esv2994 2 33077923 33080880 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25435 S 1 0 1 Single Asian sample YH LTBP1 YH nsv498917 2 33077966 33080797 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585778 S 9 0 1 LTBP1 nsv514057 2 33077992 33080690 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628214 S 1414 0 1 LTBP1 esv24129 2 33078009 33080817 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11386 S 451 18 2 LTBP1 NA06985,NA07037,NA12006,NA12489,NA12749,NA12776,NA12828,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19225,NA19257 esv1004367 2 33079123 33080769 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586862 S 3 1 0 LTBP1 HuRef nsv828753 2 33079123 33080769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432655,nssv1424606,nssv1433487 M 31 0 3 LTBP1 NA18526,NA18947,NA18972 nsv828764 2 33079675 33080769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425569,nssv1421520,nssv1430410 M 31 0 3 LTBP1 AK16,AK4,NA18997 esv33628 2 33110988 33308859 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100651 S 51 0 1 LTBP1 21656 nsv873789 2 33151471 33243692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561566 S 6533 1 0 LTBP1 MS25099 esv1003692 2 33214093 33214144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571280 S 3 0 1 LTBP1 HuRef nsv873790 2 33223086 33319987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557419 S 6533 0 1 LTBP1 MS22677 esv270870 2 33258198 33258520 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510967,essv2494258,essv2504269,essv2494759,essv2506122,essv2500976,essv2504728,essv2499177,essv2510844,essv2497587,essv2499640,essv2512056,essv2497993,essv2502156 M 157 14 0 Samples from several populations that are part of the HapMap project. LTBP1 NA11831,NA18502,NA18505,NA18519,NA18523,NA18856,NA19099,NA19114,NA19116,NA19147,NA19225,NA19238,NA19240,NA19257 esv273215 2 33258203 33258510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584374,essv2583553 M 7 2 0 Samples from several populations that are part of the HapMap project. LTBP1 NA19238,NA19240 esv2517327 2 33333140 33333424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238819 S 1 0 1 LTBP1 NA18507 nsv873791 2 33343479 33440280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564115 S 6533 0 1 LTBP1 IS30171 nsv518285 2 33356009 33362723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695717 S 2026 0 1 LTBP1 esv268552 2 33429272 33429619 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504469,essv2507986,essv2503383,essv2502534,essv2503637,essv2511481 M 157 6 0 Samples from several populations that are part of the HapMap project. LTBP1 NA06986,NA07346,NA11993,NA12003,NA12716,NA12750 nsv524337 2 33466346 33467691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700244 S 2026 0 1 LTBP1 nsv528277 2 33466828 33467691 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704847 S 2026 1 0 LTBP1 nsv517737 2 33517854 33529944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677276,nssv687051,nssv653055,nssv664686,nssv667065,nssv682742,nssv672285,nssv662837,nssv658174,nssv666734,nssv677531,nssv670391 M 2026 0 12 RASGRP3 nsv873792 2 33536241 33569246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545001 S 6533 0 1 RASGRP3 MS16632 nsv828775 2 33570570 33581186 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422428 S 31 0 1 RASGRP3 NA18552 dgv444n27 2 33611960 33619459 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456141,nsv456130 M 1557 0 2 RASGRP3 HGDP01003,NINDS_66 nsv433177 2 33611960 33619459 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463058 S 9 0 1 RASGRP3 NA15510 nsv516338 2 33611960 33633735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667684,nssv668701,nssv683321,nssv687715,nssv670556,nssv692651,nssv682327,nssv687561,nssv663151,nssv671643,nssv669532,nssv672626,nssv686069,nssv668355,nssv661187,nssv662625,nssv660562,nssv681284,nssv656030,nssv681597,nssv673029 M 2026 0 21 RASGRP3 nsv435723 2 33616697 33621360 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465896 S 2 0 1 RASGRP3 NA15510 nsv820684 2 33617842 33621311 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420115 S 1 0 1 RASGRP3 NA10851 esv28690 2 33617977 33621197 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14675,esv19946 M 451 31 1 RASGRP3 NA06985,NA07037,NA11931,NA11993,NA11995,NA12006,NA12239,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819369 2 33618484 33621661 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419516 S 2 1 0 RASGRP3 AK1 esv2462414 2 33633776 33635233 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226754 S 1 0 1 RASGRP3 NA18507 esv2199255 2 33634604 33635307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928701 S 1 0 1 RASGRP3 NA18507 esv4426 2 33634681 33635200 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26867 S 1 0 1 Single Asian sample YH RASGRP3 YH nsv873793 2 33790205 33841677 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540116 S 6533 1 0 MYADML MS14696 dgv4077n71 2 33790205 33957050 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873794,nsv873795 M 6533 2 0 MYADML MS14942,MS16647 esv270961 2 33799291 33799630 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2564312,essv2552633,essv2538775,essv2572858 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18502,NA19108,NA19143 nsv214925 2 33804659 33812939 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233503 M 24 MYADML nsv873796 2 33806690 33835005 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517092 S 6533 0 1 MYADML SP57173 esv26355 2 33836740 33847668 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21301,esv19235 M 451 14 0 "" NA07037,NA11931,NA12006,NA12156,NA12828,NA18505,NA18523,NA18858,NA18916,NA19108,NA19114,NA19147,NA19240,NA19257 esv2027756 2 33845860 33846282 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840476 S 1 0 1 "" NA18507 esv1628058 2 33846042 33846091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031482 S 2 0 1 "" HuRef nsv873797 2 33850487 33981506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522763 S 6533 1 0 "" SP53413 nsv873798 2 33850487 34263744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523142 S 6533 1 0 "" SP53705 dgv4078n71 2 33850487 34900611 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873804,nsv873799,nsv873800 M 6533 3 0 "" SP50530,SP51377,SP53413 dgv4079n71 2 33859297 33968347 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873801,nsv873802 M 6533 2 0 "" MS14696,MS19649 esv271826 2 33868907 33869031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511892,essv2510663,essv2493635,essv2506230,essv2505885,essv2513377 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18517,NA18523,NA18861,NA18907 nsv528984 2 33889931 33896930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705684 S 2026 0 1 "" dgv445n27 2 33899749 34021235 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456152,nsv456163 M 1557 0 2 "" HGDP00557,HGDP00578 nsv470449 2 33899749 34040760 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547180,nssv547178 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00557,HGDP00578 nsv524602 2 33914848 33920261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700563 S 2026 0 1 "" nsv528832 2 33952011 33981506 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705507 S 2026 1 0 "" nsv873803 2 33991407 34076425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522175 S 6533 0 1 "" SP52787 nsv873805 2 34021235 34076425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523996 S 6533 0 1 "" SP54337 esv273419 2 34042252 34042337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581296 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv873806 2 34054197 34083946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555655,nssv1544142 M 6533 2 0 "" MS16268,MS21483 nsv873807 2 34083946 34223160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552932 S 6533 1 0 "" MS19649 nsv523688 2 34099009 34201484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699494 S 2026 0 1 "" esv2495607 2 34108271 34109283 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217184 S 1 1 0 "" NA18507 esv269873 2 34108864 34109196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558044,essv2546617,essv2521386,essv2522731,essv2544112,essv2556618,essv2545459,essv2523445,essv2577314,essv2570722,essv2548410,essv2521493,essv2550638,essv2535355,essv2554008,essv2544330,essv2552173,essv2547474,essv2558442,essv2564730,essv2577818,essv2559432,essv2576425,essv2520213,essv2554976,essv2530589,essv2561838,essv2537440,essv2528177,essv2540060,essv2557089,essv2552482,essv2551719,essv2532349,essv2562762,essv2569547,essv2578777,essv2549982,essv2558800,essv2536982,essv2539171,essv2569663,essv2527256,essv2544760,essv2523673,essv2538349,essv2524345,essv2534620,essv2561187,essv2539903,essv2549344,essv2566173,essv2532893,essv2567833,essv2541759,essv2570059,essv2572496,essv2559095,essv2566881,essv2541997,essv2551152,essv2543649,essv2562293,essv2539410,essv2533844,essv2578146,essv2555601,essv2567247,essv2530170,essv2555822,essv2534423,essv2531343,essv2573435,essv2577037,essv2571961,essv2526756,essv2529602,essv2575273,essv2526648,essv2524047,essv2560871,essv2530401,essv2568698,essv2549951,essv2571434,essv2545797,essv2574222,essv2551211,essv2535935,essv2549115,essv2554415,essv2524792,essv2563138 M 157 93 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07357,NA10847,NA10851,NA11881,NA11894,NA11931,NA11992,NA11994,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12155,NA12249,NA12287,NA12414,NA12489,NA12717,NA12750,NA12751,NA12761,NA12776,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA18489,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18537,NA18547,NA18555,NA18561,NA18562,NA18563,NA18564,NA18572,NA18576,NA18577,NA18592,NA18593,NA18609,NA18638,NA18853,NA18856,NA18858,NA18870,NA18909,NA18912,NA18916,NA18940,NA18945,NA18947,NA18949,NA18956,NA18959,NA18961,NA18964,NA18970,NA18973,NA19005,NA19093,NA19102,NA19114,NA19129,NA19137,NA19141,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv272359 2 34108865 34109195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582168,essv2582330,essv2584161,essv2584832,essv2583327 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1407424 2 34108896 34108896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252065 S 2 1 0 "" HuRef nsv873808 2 34129261 34556561 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529047 S 6533 1 0 "" SP81432 nsv873809 2 34131483 34171065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574670 S 6533 0 1 "" IS33605 nsv456185 2 34156247 34166507 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533558 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00169 esv27499 2 34157269 34166531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13493 S 451 0 1 "" NA11995 nsv833714 2 34201697 34358396 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441845,nssv1441848,nssv1441847,nssv1441846 M 95 4 0 "" esv271095 2 34210448 34210571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493312,essv2504289,essv2502949,essv2501090,essv2494770,essv2500933,essv2507365,essv2498801,essv2502250 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18507,NA18516,NA18519,NA18856,NA18912,NA19138,NA19257 nsv522079 2 34252242 34256848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694853 S 2026 0 1 "" nsv873810 2 34309704 34900611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523143 S 6533 1 0 "" SP53705 esv2528907 2 34320506 34321543 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391631 S 1 1 0 "" NA18507 esv270645 2 34320925 34321092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502924,essv2513261,essv2510901,essv2496932,essv2493876,essv2511980 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18907,NA19116,NA19190,NA19210,NA19238 esv272814 2 34320937 34321204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580804 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269810 2 34327138 34327331 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512493,essv2504192,essv2496482,essv2498354,essv2499930,essv2494436,essv2508124,essv2510082,essv2499255,essv2501598,essv2512923,essv2507517,essv2505953,essv2509199,essv2500481,essv2497408,essv2505679 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18505,NA18510,NA18526,NA18562,NA18572,NA18579,NA18593,NA18605,NA18608,NA18609,NA18638,NA18861,NA18909,NA18956,NA18959,NA19005 nsv873811 2 34354908 35565365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552933 S 6533 1 0 "" MS19649 esv32820 2 34357818 34359582 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93906,essv94091,essv97067,essv101782,essv93729,essv98556,essv93418,essv99690,essv99284,essv97683,essv100227,essv100300,essv99413,essv94271 M 51 14 0 "" 21634,21802,21817,21909,21972,22085,22128,22217,22275,22278,22286,22300,22335,22394 nsv526661 2 34372698 34386019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702989 S 2026 0 1 "" esv1000974 2 34374809 34383545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565191 S 3 0 1 "" HuRef esv2543833 2 34376800 34380053 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287842 S 1 0 1 "" NA18507 nsv873812 2 34376978 34442513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569059 S 6533 0 1 "" IS31419 esv2327816 2 34376983 34379407 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846829 S 1 0 1 "" NA18507 esv4366 2 34377127 34379374 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26807 S 1 0 1 Single Asian sample YH "" YH esv1003491 2 34377158 34379222 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579097 S 3 0 1 "" HuRef esv9003 2 34377158 34379228 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31444 S 1 0 1 "" SJK nsv215035 2 34377161 34379225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233613 M 24 "" nsv821159 2 34377193 34378411 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420126 S 1 0 1 "" NA10851 esv21982 2 34377193 34379324 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13334,esv18155 M 451 14 6 "" NA06985,NA07045,NA12004,NA12006,NA12239,NA12489,NA12828,NA15510,NA18502,NA18511,NA18523,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19240 nsv828786 2 34377193 34379324 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422429,nssv1438646,nssv1434922,nssv1436518,nssv1421522,nssv1440193,nssv1426461,nssv1433488,nssv1428883 M 31 0 9 "" AK12,AK6,NA18526,NA18552,NA18564,NA18592,NA18942,NA18973,NA18997 dgv619n67 2 34377194 34378411 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828797,nsv828809 M 31 0 21 "" AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18537,NA18542,NA18547,NA18566,NA18570,NA18582,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18999 nsv514058 2 34377372 34378112 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628225 S 1414 0 1 "" esv33506 2 34377401 34378081 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101438,essv98763,essv97546,essv101187,essv93841,essv100844,essv98250,essv94074,essv94411,essv96982,essv97945,essv97323,essv101735,essv92837,essv92754,essv93600,essv96128,essv97124,essv98560,essv100041,essv93561,essv93219,essv99663,essv94952,essv98058,essv99260,essv97687,essv100174,essv100353,essv99396,essv98387,essv96360,essv94190 M 51 33 0 "" 21603,21606,21616,21618,21634,21656,21772,21802,21808,21817,21837,21879,21909,21939,21944,21972,22007,22075,22085,22086,22128,22170,22217,22231,22259,22275,22278,22286,22300,22335,22352,22371,22394 esv2225318 2 34398768 34399513 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984878 S 1 0 1 "" NA18507 esv5838 2 34398922 34399464 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28279 S 1 0 1 "" SJK esv32638 2 34404397 34405107 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92823 S 51 1 0 "" 21944 nsv873813 2 34407546 34504243 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503955 S 6533 1 0 "" SP52137 nsv521324 2 34418090 34422280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694433 S 2026 0 1 "" nsv873814 2 34444524 34556561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601021 S 6533 0 1 "" IS41964 esv2444504 2 34460573 34462084 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322760 S 1 0 1 "" NA18507 nsv833725 2 34472432 34641495 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441849,nssv1441853,nssv1441850 M 95 1 2 "" nsv817717 2 34487806 34495679 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417829,nssv1417828 M 112 2 0 "" NA18852,NA18853 esv2562445 2 34496726 34498194 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164033 S 1 0 1 "" NA18507 esv2278477 2 34496988 34497656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790714 S 1 0 1 "" NA18507 esv4250 2 34497084 34497530 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26691 S 1 0 1 Single Asian sample YH "" YH esv2560204 2 34497149 34497455 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347251 S 1 0 1 "" NA18507 esv9100 2 34497155 34497441 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31541 S 1 0 1 "" SJK essv2916 2 34538784 34580815 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19007 dgv1164e1 2 34538784 34608536 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18479,essv20756,essv21618,esv1034 M 271 0 0 "" NA07348,NA07357,NA12156 nsv2671 2 34539122 34596305 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4408,nssv6828 M 9 0 2 "" NA12156,NA12878 esv32894 2 34542550 34542943 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94185 S 51 1 0 "" 22394 nsv9491 2 34543671 34590250 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23386,nssv28797,nssv24281,nssv26715,nssv27164,nssv28159,nssv25714,nssv25943,nssv23982,nssv27630,nssv24891,nssv26568,nssv28013,nssv28003,nssv23394,nssv26860,nssv23701,nssv28482,nssv27418,nssv23993,nssv27622,nssv27159,nssv28433 M 31 22 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA12155,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv828820 2 34543847 34590292 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429626 S 31 0 1 "" AK14 esv32622 2 34543915 34590026 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98691,essv97501,essv101231,essv93931,essv100670,essv98308,essv94720,essv94105,essv94431,essv96924,essv97951,essv97440,essv101664,essv99088,essv92828,essv93691,essv96224,essv98624,essv99977,essv93452,essv93402,essv99673,essv94865,essv98103,essv96457,essv99283,essv97651,essv100113,essv100582,essv100335,essv98523,essv96279,essv94201 M 51 0 33 "" 21606,21616,21618,21634,21656,21772,21791,21802,21808,21817,21837,21879,21909,21938,21944,21972,22007,22085,22086,22128,22170,22217,22231,22259,22261,22275,22278,22286,22298,22300,22352,22371,22394 nsv820504 2 34543973 34590292 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420137 S 1 0 1 "" NA10851 dgv4080n71 2 34544587 34592120 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873815,nsv873819,nsv873816,nsv873817,nsv873820 M 6533 0 59 "" SP50058,SP50128,SP50183,SP50823,SP50832,SP50876,SP51058,SP51069,SP51147,SP51422,SP52081,SP52299,SP52531,SP52716,SP52834,SP53342,SP53894,SP54469,SP54489,SP54579,SP54672,SP54766,SP54790,SP55195,SP55287,SP55382,SP55509,SP55558,SP55621,SP55663,SP55677,SP55717,SP55800,SP55803,SP55835,SP55911,SP55914,SP56012,SP56108,SP56126,SP56223,SP56294,SP56301,SP56385,SP56467,SP56862,SP56971,SP56975,SP57173,SP57193,SP57336,SP57355,SP57545,SP57651,SP57671,SP57873,SP58114,SP80977,SP81091 nsv819852 2 34547637 34590120 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418734 S 2 1 0 "" AK1 esv26780 2 34548934 34590089 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14584 S 451 31 3 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv498918 2 34549333 34590072 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585779 S 9 0 1 "" nsv828831 2 34551022 34590090 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427327 S 31 1 0 "" AK8 nsv873818 2 34551325 34582939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518402 S 6533 0 1 "" SP57551 nsv514059 2 34552668 34583216 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628236 S 1414 0 1 "" nsv442694 2 34552823 34590561 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv508720 2 34560276 34599150 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617458 S 4 0 1 "" CHM nsv438292 2 34567231 34575063 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470463,nssv470452,nssv470474,nssv470430,nssv470374,nssv470485,nssv470408,nssv470519,nssv470363,nssv470441,nssv470385,nssv470496,nssv470396,nssv470419,nssv470530,nssv470507 M 269 0 16 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA06993,NA07019,NA10855,NA11994,NA12005,NA12155,NA12716,NA12751,NA12801,NA12812,NA12813,NA12865,NA12874,NA12891 nsv873821 2 34592120 35269579 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529048 S 6533 1 0 "" SP81432 nsv518535 2 34604049 34731437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695979 S 2026 0 1 "" nsv2672 2 34628286 34672431 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4409 S 9 0 1 "" NA12878 nsv873822 2 34650236 34723166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503207 S 6533 0 1 "" SP52003 dgv4081n71 2 34668022 34787189 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873824,nsv873823 M 6533 0 2 "" IS38268,IS40017 nsv522238 2 34675494 34681882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695019 S 2026 0 1 "" esv1926029 2 34680559 34682986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750457 S 1 0 1 "" NA18507 nsv9502 2 34680611 34684005 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28473,nssv27530 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19240 nsv471777 2 34680685 34683250 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646058 M 0.085 95 "" esv29048 2 34680770 34682491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12613 S 451 0 2 "" NA18517,NA19240 nsv517738 2 34681882 34731437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655383,nssv681395,nssv653056,nssv665447,nssv663284,nssv663896,nssv659536,nssv666050,nssv690404 M 2026 0 9 "" esv4087 2 34682287 34682913 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26528 S 1 0 1 Single Asian sample YH "" YH esv1099046 2 34682556 34682815 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613998 S 2 0 1 "" HuRef nsv214081 2 34682593 34682851 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232659 M 24 "" nsv873825 2 34746336 34969352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572974 S 6533 0 1 "" IS33200 esv2638080 2 34752165 34753644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298749 S 1 0 1 "" NA18507 nsv873826 2 34768818 34840337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562525 S 6533 1 0 "" MS25617 nsv873827 2 34773019 34816037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592533,nssv1584934 M 6533 0 2 "" IS37207,IS39243 nsv873828 2 34773019 34875923 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588905,nssv1536875 M 6533 1 1 "" IS38265,MS12991 esv29236 2 34775299 34777524 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18077 S 451 1 0 "" NA18909 nsv873829 2 34781584 34875923 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594731 S 6533 1 0 "" IS40004 esv29335 2 34819216 34820134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21293 S 451 0 2 "" NA12414,NA12489 nsv873830 2 34826295 34900611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500285 S 6533 1 0 "" SP50530 nsv524038 2 34844441 34927111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699902 S 2026 0 1 "" nsv511776 2 34860310 34861937 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626425 S 1 0 1 "" 1 esv2433782 2 34860342 34862011 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307428 S 1 0 1 "" NA18507 esv2293833 2 34860549 34861512 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897696 S 1 0 1 "" NA18507 dgv4082n71 2 34867355 34969352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873831,nsv873833,nsv873832 M 6533 0 3 "" IS36424,IS37226,MS18886 nsv516219 2 34875923 34887500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666876,nssv657022 M 2026 0 2 "" esv2490386 2 34887602 34889113 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200610 S 1 0 1 "" NA18507 esv2125398 2 34887858 34888383 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681000 S 1 0 1 "" NA18507 esv3047 2 34887906 34888285 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25488 S 1 0 1 Single Asian sample YH "" YH nsv215147 2 34887942 34888186 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233725 M 24 "" nsv873834 2 34891237 34992022 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513798 S 6533 0 1 "" SP55847 nsv516465 2 34914715 34927111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670477,nssv699818,nssv691019,nssv659747,nssv661519,nssv668554,nssv675004,nssv673605 M 2026 0 8 "" nsv441751 2 34917577 34920174 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv522582 2 34918750 34941739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705969 S 2026 0 1 "" nsv517815 2 34927111 34946266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695220 S 2026 0 1 "" esv268480 2 34970542 34970726 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510249,essv2500832,essv2507726 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11830,NA12751 nsv833736 2 34984622 35174806 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441854 S 95 1 0 "" esv271640 2 35029661 35030070 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506064,essv2496898 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19190 nsv873835 2 35030685 35182821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558015 S 6533 0 1 "" MS23057 nsv873836 2 35078545 35201278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577854 S 6533 0 1 "" IS34599 dgv1165e1 2 35091247 35258488 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15415,esv493 M 271 0 0 "" NA19203 nsv9513 2 35120775 35123332 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28522 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 dgv4083n71 2 35157606 35217591 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873837,nsv873838 M 6533 0 2 "" IS30522,IS38235 nsv528847 2 35169957 35172516 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705526 S 2026 1 0 "" nsv873839 2 35182821 35257515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539319 S 6533 0 1 "" MS14296 nsv873840 2 35193444 35310494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540275 S 6533 0 1 "" MS14779 nsv873841 2 35203547 35297337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582826 S 6533 1 0 "" IS36173 nsv873842 2 35220734 35506420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600176 S 6533 0 1 "" IS41857 nsv528631 2 35241795 35242492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705261 S 2026 0 1 "" nsv527036 2 35241795 35257515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703412 S 2026 0 1 "" nsv524509 2 35241795 35269579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700453 S 2026 0 1 "" nsv833747 2 35242137 35421717 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441855 S 95 0 1 "" nsv524168 2 35262635 35269579 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700048 S 2026 1 0 "" nsv519522 2 35279033 35715387 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696899 S 2026 1 0 "" nsv873843 2 35297337 35405000 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539556 S 6533 0 1 "" MS14361 esv33519 2 35344462 35345679 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98720 S 51 0 1 "" 21606 esv32795 2 35364494 35364552 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100002 S 51 0 1 "" 22086 nsv873844 2 35368592 35480089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528708 S 6533 0 1 "" SP81352 dgv446n27 2 35373678 35488015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456219,nsv456207 M 1557 0 2 "" HGDP01254,HGDP01260 nsv470451 2 35373678 35488015 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547181,nssv547183,nssv547188,nssv547182,nssv547187,nssv547185,nssv547186,nssv547184 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00473,HGDP00617,HGDP00635,HGDP00941,HGDP01254,HGDP01260,HGDP01283,HGDP01405 nsv873845 2 35411849 35495036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549000 S 6533 0 1 "" MS17974 nsv2673 2 35414614 35491604 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9567,nssv1487 M 9 0 2 "" NA18507,NA19240 essv9564 2 35426063 35439433 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18501 dgv1166e1 2 35426063 35490710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1258,essv14233 M 271 0 0 "" NA18913 nsv437283 2 35432536 35473020 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467164 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv516995 2 35433195 35467948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663375,nssv670478,nssv659748,nssv681608,nssv653573,nssv690737,nssv687070,nssv657936,nssv661907,nssv690702,nssv676690,nssv664164,nssv669936,nssv671298,nssv689339,nssv652840,nssv656703,nssv672317,nssv680711,nssv677024,nssv684986,nssv684757,nssv663244,nssv680469,nssv687888,nssv666346,nssv661880,nssv684053,nssv693191,nssv665172,nssv677752,nssv665125,nssv669969,nssv678895,nssv657320,nssv686840,nssv658976 M 2026 0 37 "" nsv9524 2 35433253 35473954 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28827,nssv27640 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19221,NA19240 esv2584238 2 35433757 35470211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302192 S 1 0 1 "" NA18507 esv23666 2 35434274 35469913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15716 S 451 0 1 "" NA19240 esv2421525 2 35435011 35469179 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5159959,essv5051983,essv5144903,essv5049727,essv5110697,essv5111608,essv5137428,essv5046576,essv5099715,essv5111100,essv5131126,essv5129567,essv5125090,essv5129969,essv5008702,essv5098526,essv5021565,essv5132437,essv5152485,essv5086853,essv5137285,essv5016572,essv5157561,essv5116471,essv5139458,essv5120856,essv5124178,essv5096902,essv5041849,essv5156814,essv5019751,essv5093867,essv5054558,essv5104907 M 1184 0 34 "" NA17998,NA18501,NA18506,NA18507,NA18913,NA19041,NA19149,NA19151,NA19175,NA19178,NA19180,NA19181,NA19198,NA19221,NA19222,NA19239,NA19240,NA19332,NA19399,NA19462,NA19711,NA19713,NA19720,NA19983,NA19985,NA21336,NA21418,NA21421,NA21454,NA21479,NA21485,NA21529,NA21739,NA21784 esv2642900 2 35435076 35470814 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362085 S 1 0 1 "" NA18507 nsv442700 2 35435499 35458674 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv456230 2 35435501 35454896 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533593 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00941 dgv19n14 2 35435501 35467948 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433200,nsv433198 M 9 0 2 "" NA18507,NA19240 dgv447n27 2 35435501 35467948 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456241,nsv456252 M 1557 0 2 "" HGDP01283,HGDP01405 nsv817729 2 35435501 35467948 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416826,nssv1416827 M 112 0 2 "" NA19239,NA19240 nsv514060 2 35435676 35469212 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628247 S 1414 0 1 "" dgv1167e1 2 35435972 35476164 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14003,essv16176 M 271 0 0 "" NA18506,NA19222 nsv438304 2 35439139 35468369 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470596,nssv470585,nssv470618,nssv470607,nssv470574,nssv470563,nssv470552,nssv470541 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA18501,NA18506,NA18507,NA18913,NA19221,NA19222,NA19239,NA19240 nsv873846 2 35446247 35477063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590056,nssv1575984 M 6533 0 2 "" IS33852,IS38454 nsv873847 2 35454896 35524155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581878,nssv1570182 M 6533 0 2 "" IS31825,IS35743 nsv873848 2 35495036 35827467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526144 S 6533 1 0 "" SP57044 nsv873849 2 35538389 35570743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514398 S 6533 0 1 "" SP56004 nsv523461 2 35556037 35566813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699219 S 2026 0 1 "" nsv518450 2 35565365 35632862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695888 S 2026 0 1 "" esv270208 2 35613463 35617484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496822,essv2494999,essv2506030,essv2505873 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18520,NA18523,NA18861 nsv214580 2 35625771 35625823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233158 M 24 "" nsv2674 2 35654359 35699246 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7481 S 9 0 1 "" NA12156 dgv4084n71 2 35667583 35838622 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873850,nsv873854 M 6533 0 4 "" IS33460,IS38335,IS38356,MS16107 dgv4085n71 2 35667583 35948942 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873853,nsv873851,nsv873856,nsv873855 M 6533 0 15 "" IS32724,IS33248,IS33663,IS34184,IS34374,IS37651,IS37995,IS38544,IS38633,IS39100,IS39680,IS39838,IS40660,MS11556,MS13735 nsv470452 2 35671610 35941146 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547189,nssv547191,nssv547192 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875,HGDP01060,HGDP01382 nsv873852 2 35671611 35780017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536251 S 6533 0 1 "" MS12662 nsv519867 2 35671611 35941146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699422,nssv698222,nssv694581,nssv704182,nssv676691,nssv686276,nssv659176 M 2026 0 7 "" dgv58n68 2 35674864 35885590 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv833770,nsv833759 M 95 6 0 "" dgv448n27 2 35690667 35941146 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456274,nsv456285,nsv456263 M 1557 0 3 "" 1780854061_A,1782681555_A,HGDP00155 nsv508835 2 35711991 35742681 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623865 S 4 1 0 "" NA18994 nsv2675 2 35717176 35740594 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6830 S 9 1 0 "" NA12156 dgv1168e1 2 35717470 35885592 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9983,essv20433,essv7168 M 271 0 0 "" NA10830,NA18547,NA19099 dgv1169e1 2 35717470 35973085 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20262,essv15035,essv16841,esv484,essv13912,essv17202,essv2024,essv16284,essv14354 M 271 0 0 "" NA12144,NA18854,NA18949,NA19129,NA19161,NA19171,NA19194,NA19205 nsv428390 2 35717470 35973085 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453753,nssv453720,nssv453742,nssv453731,nssv453709 M 62 0 5 "" HGDP00449,HGDP00450,HGDP00462,HGDP01087,NA19189 nsv9535 2 35722812 35739593 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27289 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 esv272821 2 35732817 35738906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580094,essv2579858 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv268518 2 35732821 35738922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565567,essv2523338,essv2552202,essv2537437,essv2546927,essv2521018,essv2557516,essv2556963,essv2532131,essv2578618,essv2537034,essv2539078,essv2561613,essv2544865,essv2563073,essv2523649,essv2552914,essv2561046,essv2566254,essv2532928,essv2541679,essv2566888,essv2541899,essv2551169,essv2543662,essv2528147,essv2573209,essv2533786,essv2573801,essv2522587,essv2531421,essv2571881,essv2538575,essv2560570,essv2524061,essv2574783,essv2545168,essv2549713,essv2571222,essv2551590,essv2538051,essv2533118,essv2547727,essv2563249 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07347,NA10847,NA11829,NA12004,NA12489,NA12878,NA12892,NA18498,NA18499,NA18501,NA18505,NA18510,NA18517,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18562,NA18572,NA18576,NA18592,NA18853,NA18856,NA18858,NA18870,NA18907,NA18942,NA18944,NA18951,NA18960,NA18961,NA18973,NA19108,NA19116,NA19129,NA19138,NA19172,NA19225,NA19238,NA19257 dgv4086n71 2 35762504 35797101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873857,nsv873860,nsv873865,nsv873859,nsv873864,nsv873858 M 6533 0 10 "" IS31563,IS32006,IS32289,IS33878,IS35498,IS36219,IS36244,IS37999,IS39861,MS15036 dgv4087n71 2 35762504 35808790 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873861,nsv873862 M 6533 0 3 "" IS30539,IS39119,MS18978 nsv873863 2 35762504 35873441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574244 S 6533 0 1 "" IS33533 nsv456296 2 35769632 35790473 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533640 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00738 dgv4088n71 2 35780017 35803292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873866,nsv873867 M 6533 0 2 "" IS35271,IS39718 nsv456307 2 35781854 35800575 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533651 S 1557 0 1 "" 1780862358_A nsv9547 2 35787317 35794183 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27294 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv456318 2 35789030 35803292 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533661 S 1557 0 1 "" 1798860567_A nsv873868 2 35811355 35871192 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560380 S 6533 0 1 "" MS24459 nsv2676 2 35817084 35883358 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6831,nssv4410,nssv1488,nssv9345,nssv5780 M 9 0 5 "" NA12156,NA12878,NA18517,NA19129,NA19240 nsv9558 2 35821278 35851674 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27730,nssv28209,nssv28513,nssv26168,nssv23988,nssv25171,nssv26727,nssv23696,nssv25701,nssv26855,nssv28088,nssv28592,nssv24276,nssv27738,nssv28098,nssv25445,nssv27748,nssv27916,nssv24002,nssv24287,nssv27414,nssv27009,nssv27409 M 31 0 23 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19173,NA19240 dgv620n67 2 35821325 35845084 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828842,nsv828853 M 31 0 4 "" AK14,NA18526,NA18942,NA18968 esv1005352 2 35821447 35845084 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586889 S 3 0 1 "" HuRef nsv508721 2 35821558 35843723 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619030 S 4 0 1 "" NA10860 esv1009573 2 35826333 35851852 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564876 S 3 0 1 "" HuRef nsv511777 2 35828602 35851206 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626426 S 1 0 1 "" 1 nsv436278 2 35829250 35850830 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465897 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498919 2 35829488 35850687 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585780 S 9 0 1 "" esv987531 2 35829759 35844687 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586380 S 3 0 1 "" HuRef esv22490 2 35829759 35850986 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14944 S 451 0 30 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv2421432 2 35831294 35841451 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033152,essv5055397,essv5141157,essv5041418,essv5014778,essv5150637,essv5092869,essv5135667,essv5141003,essv5082375,essv5148102,essv5117078,essv5009537,essv5098127,essv5003025,essv5082484,essv5061468,essv5130597,essv5099339,essv5090463,essv5104188,essv5097408,essv5110382,essv5085780,essv5023132,essv5014335,essv5072544,essv5043843,essv5096778,essv5006867,essv5047366,essv5154890,essv5136650,essv5110047,essv5112918,essv5094760,essv5133601,essv5037198,essv5150566,essv5045979,essv5038273,essv5067298,essv5087299,essv5071716,essv5151023,essv5086091,essv5005076,essv5080129,essv5002129,essv5046216,essv5026048,essv5051922,essv5105863,essv5030785,essv5019914,essv5049397,essv5152293,essv5122315,essv5092532,essv5071070,essv5081629,essv5133952,essv5062382,essv5040183,essv5073161,essv5014673,essv5099904,essv5068927,essv5057944,essv5109925,essv5020763,essv5070844,essv5095321,essv5160771,essv5133298,essv5021436,essv5121830,essv5002248,essv5131258,essv5152608,essv5043220,essv5095647,essv5071242,essv5042912,essv5028885,essv5126936,essv5065728,essv5120881,essv5054804,essv5074688,essv5074810,essv5020232,essv5160718,essv5051934,essv5148317,essv5141949,essv5114025,essv5114052,essv5089632,essv5104443,essv5101814,essv5154524,essv5013830,essv5031235,essv5063298,essv5055000,essv5029836,essv5061285,essv5065273,essv5035071,essv5142253,essv5147474,essv5007049,essv5136133,essv5160185,essv5121273,essv5151933,essv5027720,essv5065308,essv5093314,essv5159850,essv5069591,essv5007854,essv5052679,essv5081971,essv5071114,essv5058374,essv5031640,essv5106674,essv5110203,essv5097038,essv5019250,essv5006661,essv5020780,essv5078496,essv5132893,essv5066348,essv5148821,essv5155371,essv5146070,essv5092140,essv5133440,essv5108917,essv5077306,essv5005645,essv5071584,essv5096280,essv5140796,essv5060265,essv5058561,essv5056458,essv5046081,essv5029708,essv5035933,essv5037577,essv5113707,essv5129130,essv5097594,essv5015426,essv5066165,essv5034156,essv5098207,essv5110072,essv5020119,essv5026379,essv5118162,essv5116802,essv5103483,essv5143378,essv5109367,essv5075854,essv5112955,essv5084271,essv5036792,essv5119245,essv5137580,essv5052852,essv5115328,essv5104597,essv5030159,essv5064338,essv5074951,essv5055768,essv5074737,essv5108198,essv5016376,essv5036674,essv5148387,essv5023434,essv5051159,essv5129611,essv5158618,essv5095623,essv5137667,essv5052636,essv5154459,essv5069924,essv5109855,essv5052963,essv5134850,essv5112661,essv5043487,essv5157816,essv5055500,essv5092484,essv5127405,essv5160427,essv5074133,essv5036556,essv5121749,essv5096006,essv5037028,essv5100431,essv5112765,essv5040290,essv5064610,essv5140221,essv5024733,essv5118957,essv5055701,essv5127056,essv5027774,essv5088673,essv5109312,essv5093128,essv5095560,essv5058497,essv5005399,essv5062456,essv5045430,essv5002102,essv5068359,essv5155327,essv5106460,essv5058570,essv5053812,essv5159230,essv5071249,essv5082266,essv5127064,essv5007531,essv5102032,essv5023869,essv5066232,essv5012310,essv5071004,essv5121795,essv5112490,essv5063376,essv5158359,essv5144849,essv5123466,essv5128455,essv5045625,essv5123072,essv5084805,essv5106524,essv5145023,essv5040020,essv5096840,essv5149838,essv5114963,essv5089771,essv5089466,essv5069875,essv5108369,essv5108152,essv5101618,essv5010531,essv5106422,essv5072022,essv5066988,essv5151227,essv5115687,essv5010330,essv5075766,essv5147545,essv5147107,essv5075053,essv5025748,essv5129364,essv5156910,essv5015701,essv5031215,essv5072369,essv5039944,essv5026741,essv5045758,essv5160716,essv5018232,essv5118645,essv5014563,essv5152751,essv5042357,essv5020697,essv5008755,essv5011747,essv5007044,essv5099861,essv5137603,essv5097358,essv5002913,essv5156264,essv5080828,essv5087249,essv5143263,essv5102572,essv5041701,essv5005235,essv5044943,essv5037939,essv5040122,essv5036373,essv5110780,essv5009339,essv5098410,essv5066403,essv5028402,essv5101290,essv5161054,essv5048508,essv5060626,essv5053961,essv5017643,essv5038843,essv5126434,essv5125193,essv5064510,essv5053501,essv5091893,essv5068612,essv5091084,essv5153883,essv5104393,essv5140171,essv5070206,essv5093694,essv5067916,essv5002786,essv5091406,essv5050325,essv5070902,essv5077177,essv5134252,essv5059570,essv5114853,essv5101218,essv5035664,essv5110195,essv5043674,essv5007894,essv5158382,essv5124718,essv5126348,essv5137617,essv5152688,essv5054020,essv5016238,essv5155884,essv5038243,essv5047499,essv5160604,essv5059186,essv5064515,essv5035689,essv5113342,essv5142783,essv5116895,essv5125209,essv5118403,essv5096075,essv5059834,essv5019041,essv5061848,essv5031900,essv5117799,essv5025591,essv5092836,essv5048867,essv5033747,essv5025544,essv5050604,essv5046423,essv5040033,essv5102238,essv5022535,essv5096916,essv5103835,essv5098599,essv5038505,essv5018146,essv5111213,essv5026201,essv5018367,essv5053246,essv5160726,essv5110957,essv5077898,essv5080629,essv5092829,essv5003752,essv5027886,essv5146104,essv5090993,essv5004014,essv5011472,essv5052207,essv5032643,essv5156937,essv5045918,essv5089559,essv5007628,essv5120732,essv5114271,essv5005587,essv5102487,essv5151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5007689,essv5030264,essv5039286,essv5016757,essv5080782,essv5051703,essv5142653,essv5091844,essv5086592,essv5017076,essv5149953,essv5112198,essv5125031,essv5069990,essv5070170,essv5100930,essv5096237,essv5157279,essv5132154,essv5056888,essv5023050,essv5043606,essv5003764,essv5076782,essv5044537,essv5061354 M 1184 0 859 "" NA06985,NA06989,NA06991,NA06994,NA06995,NA07000,NA07014,NA07029,NA07031,NA07037,NA07051,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10838,NA10839,NA10840,NA10843,NA10846,NA10847,NA10850,NA10852,NA10854,NA10855,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11918,NA11919,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12056,NA12144,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12273,NA12283,NA12286,NA12287,NA12335,NA12340,NA12341,NA12342,NA12344,NA12347,NA12376,NA12386,NA12399,NA12413,NA12489,NA12546,NA12707,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12761,NA12763,NA12766,NA12767,NA12775,NA12777,NA12778,NA12814,NA12815,NA12817,NA12827,NA12828,NA12830,NA12832,NA12842,NA12864,NA12872,NA12873,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17965,NA17966,NA17967,NA17972,NA17974,NA17975,NA17976,NA17979,NA17980,NA17981,NA17983,NA17993,NA17995,NA17996,NA17997,NA17999,NA18102,NA18108,NA18109,NA18112,NA18114,NA18118,NA18120,NA18122,NA18124,NA18129,NA18133,NA18138,NA18140,NA18143,NA18144,NA18147,NA18148,NA18149,NA18152,NA18154,NA18155,NA18156,NA18160,NA18161,NA18162,NA18484,NA18486,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18508,NA18509,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18532,NA18534,NA18537,NA18543,NA18544,NA18545,NA18546,NA18550,NA18552,NA18557,NA18559,NA18562,NA18564,NA18570,NA18571,NA18573,NA18576,NA18579,NA18582,NA18592,NA18594,NA18595,NA18602,NA18605,NA18608,NA18614,NA18615,NA18616,NA18617,NA18618,NA18620,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18704,NA18740,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18858,NA18859,NA18860,NA18861,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18914,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18954,NA18955,NA18959,NA18960,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18972,NA18975,NA18977,NA18980,NA18990,NA18993,NA18994,NA18995,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19010,NA19027,NA19028,NA19031,NA19036,NA19046,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19084,NA19085,NA19086,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19113,NA19114,NA19115,NA19116,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19140,NA19142,NA19143,NA19146,NA19147,NA19148,NA19150,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19176,NA19178,NA19179,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19204,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19224,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19332,NA19346,NA19347,NA19350,NA19359,NA19360,NA19371,NA19372,NA19375,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19394,NA19396,NA19397,NA19398,NA19404,NA19428,NA19429,NA19434,NA19435,NA19437,NA19438,NA19439,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19658,NA19659,NA19660,NA19662,NA19663,NA19664,NA19665,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19683,NA19700,NA19701,NA19702,NA19703,NA19705,NA19708,NA19711,NA19712,NA19713,NA19718,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19727,NA19749,NA19751,NA19756,NA19757,NA19759,NA19760,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19778,NA19782,NA19784,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20289,NA20290,NA20291,NA20292,NA20294,NA20297,NA20301,NA20317,NA20319,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20346,NA20347,NA20349,NA20356,NA20357,NA20358,NA20359,NA20363,NA20364,NA20504,NA20505,NA20506,NA20510,NA20512,NA20515,NA20516,NA20518,NA20520,NA20521,NA20524,NA20527,NA20528,NA20529,NA20531,NA20538,NA20539,NA20540,NA20541,NA20544,NA20581,NA20582,NA20586,NA20588,NA20754,NA20756,NA20757,NA20759,NA20760,NA20761,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20774,NA20778,NA20795,NA20796,NA20797,NA20799,NA20800,NA20803,NA20806,NA20807,NA20808,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20828,NA20846,NA20847,NA20849,NA20850,NA20851,NA20853,NA20854,NA20858,NA20861,NA20862,NA20869,NA20870,NA20871,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20888,NA20889,NA20890,NA20892,NA20894,NA20896,NA20897,NA20899,NA20900,NA20901,NA20902,NA20904,NA20907,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21103,NA21104,NA21106,NA21108,NA21109,NA21115,NA21118,NA21119,NA21123,NA21125,NA21137,NA21143,NA21295,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21414,NA21415,NA21417,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21438,NA21441,NA21442,NA21451,NA21454,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21480,NA21488,NA21489,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21521,NA21522,NA21523,NA21524,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21631,NA21632,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21716,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442704 2 35831294 35841451 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv828864 2 35841036 35845084 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437288,nssv1434240,nssv1438219,nssv1424026,nssv1422431,nssv1421523,nssv1440891,nssv1439520,nssv1438006,nssv1436629,nssv1423194,nssv1426462,nssv1430412,nssv1440194,nssv1427328 M 31 0 15 "" AK16,AK6,AK8,NA18537,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18949,NA18951,NA18969,NA18997,NA18999 esv33640 2 35841284 35844318 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97552,essv101230,essv98229,essv94324,essv96898,essv97913,essv95743,essv97290,essv98995,essv92929,essv97137,essv98570,essv100061,essv97976,essv97660,essv100320,essv98464,essv96348 M 51 0 18 "" 21616,21618,21772,21808,21817,21837,21841,21879,21938,21939,22075,22085,22086,22259,22278,22300,22352,22371 nsv873869 2 35841309 35897855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547364 S 6533 0 1 "" MS17359 dgv4089n71 2 35841309 35948942 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873871,nsv873870 M 6533 0 4 "" IS33460,IS38335,IS38356,MS16107 nsv514061 2 35844236 35844944 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628258 S 1414 0 0 "" dgv214n21 2 35851821 35966626 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524113,nsv523074 M 2026 0 2 "" esv2238332 2 35862306 35862754 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559953 S 1 0 1 "" NA18507 esv29617 2 35862439 35863145 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9913 S 451 0 3 "" NA18508,NA18858,NA18861 nsv456330 2 35873441 35952465 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533671 S 1557 1 0 "" 1780854439_A nsv9569 2 35903854 35906643 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27019,nssv28857,nssv28632,nssv27521,nssv27526 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18502,NA18942,NA18972,NA19132,NA19221 nsv833781 2 35935976 36089066 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441862 S 95 1 0 "" esv23960 2 35954733 35967337 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15407 S 451 0 1 "" NA12287 esv24615 2 35975429 35987527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19210 S 451 0 1 "" NA12287 esv269877 2 36029831 36029968 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519958,essv2569243,essv2556355,essv2538541,essv2524101,essv2568664,essv2560394,essv2551320,essv2554633 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12815,NA18508,NA18871,NA19108,NA19129,NA19147,NA19190,NA19257 esv1473131 2 36034621 36034621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118975 S 2 1 0 "" HuRef esv1533262 2 36034696 36034696 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750731 S 2 1 0 "" HuRef nsv508139 2 36036294 36074224 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622808 S 4 0 1 "" NA18994 nsv2678 2 36044501 36083331 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7482 S 9 0 1 "" NA12156 nsv873872 2 36058281 36199242 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580673 S 6533 1 0 "" IS35422 esv987560 2 36068315 36074384 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563573 S 3 0 1 "" HuRef nsv511778 2 36069650 36073468 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626427 S 1 0 1 "" 1 esv1508707 2 36069829 36071896 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307775 S 2 0 1 "" HuRef nsv456341 2 36077556 36101820 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533681 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00935 dgv1170e1 2 36096956 36444162 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv618,essv23948,essv25112 M 271 0 0 CRIM1,LOC100288911 NA12814 nsv9580 2 36137198 36139083 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24282 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv873873 2 36141824 36199242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532138 S 6533 0 1 "" MS10727 nsv213769 2 36156403 36156468 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232347 M 24 "" esv34222 2 36163166 36422553 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989058,essv6978996,essv6978997,essv6988083,essv6988084 M 771 0 1 "" NA12814 nsv2679 2 36164106 36202573 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11010,nssv5781 M 9 0 2 "" NA15510,NA19129 nsv168 2 36185253 36201933 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv168 S 1 0 1 "" NA15510 nsv9591 2 36185322 36199408 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27024,nssv25182,nssv27631,nssv26867,nssv24577 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18942,NA18975,NA19007 nsv828875 2 36185761 36193112 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424632 S 31 0 1 "" NA18947 esv23872 2 36186093 36193059 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11243,esv16189 M 451 0 2 "" NA15510,NA19129 dgv621n67 2 36189613 36193112 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828897,nsv828886 M 31 0 8 "" AK12,AK18,AK8,NA18526,NA18542,NA18552,NA18942,NA18972 esv996632 2 36189868 36199489 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586645 S 3 1 0 "" HuRef nsv442708 2 36190123 36193058 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514062 2 36190212 36192972 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628269 S 1414 0 1 "" esv2421610 2 36190244 36193058 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117475,essv5016773,essv5057896,essv5154263,essv5015541,essv5068284,essv5131427,essv5138488,essv5011868,essv5161102,essv5086161,essv5106901,essv5133248,essv5150953,essv5013234,essv5052865,essv5073594,essv5049870,essv5011680,essv5137778,essv5030328,essv5150711,essv5058161,essv5134956,essv5040913,essv5140949,essv5003982,essv5137435,essv5114321,essv5047011,essv5001908,essv5141280,essv5123734,essv5093861,essv5052184,essv5135539,essv5058417,essv5017413,essv5008761,essv5103040,essv5028138,essv5121876,essv5150249,essv5045530,essv5107841,essv5157128,essv5054589,essv5066044,essv5111172,essv5052298,essv5111869,essv5074995,essv5117197,essv5144355,essv5028263,essv5063571,essv5108873,essv5038255,essv5059312,essv5144153,essv5012965,essv5065174,essv5098096,essv5072120,essv5049537,essv5031104,essv5040677,essv5087874,essv5101826,essv5126121,essv5111798,essv5074936,essv5086178,essv5059275,essv5066126,essv5031581,essv5146168,essv5124683,essv5090874,essv5124598,essv5149529,essv5118658,essv5155524,essv5158993,essv5036277,essv5029042,essv5076414,essv5048928,essv5081433,essv5010188,essv5063885,essv5088212,essv5033594,essv5101985,essv5098719,essv5105538,essv5004838,essv5018141,essv5101234,essv5098125,essv5117331,essv5076400,essv5093017,essv5074820,essv5008534,essv5147739,essv5082165 M 1184 0 107 "" NA06986,NA06997,NA17968,NA17972,NA17989,NA17996,NA17997,NA18114,NA18120,NA18124,NA18125,NA18127,NA18140,NA18141,NA18147,NA18148,NA18149,NA18153,NA18154,NA18159,NA18526,NA18534,NA18542,NA18552,NA18563,NA18599,NA18602,NA18608,NA18614,NA18622,NA18623,NA18628,NA18632,NA18633,NA18634,NA18640,NA18643,NA18645,NA18689,NA18745,NA18757,NA18942,NA18944,NA18946,NA18947,NA18959,NA18971,NA18975,NA18981,NA18987,NA18995,NA19001,NA19002,NA19005,NA19007,NA19054,NA19058,NA19060,NA19065,NA19066,NA19074,NA19077,NA19084,NA19085,NA19113,NA19128,NA19129,NA19140,NA19142,NA19146,NA19182,NA19183,NA19185,NA19186,NA19189,NA19375,NA19649,NA19650,NA19651,NA19654,NA19656,NA19669,NA19670,NA19671,NA19686,NA19720,NA19721,NA19723,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19757,NA19761,NA19763,NA19777,NA19783,NA19795,NA20300,NA20911,NA21418 nsv518004 2 36199509 36422518 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695416 S 2026 1 0 "" nsv873874 2 36217668 36285895 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569492 S 6533 0 1 "" IS31587 nsv833792 2 36223912 36402917 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441864 S 95 1 0 "" essv5830 2 36228920 36305966 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18524 esv273725 2 36234706 36236254 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580748 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 dgv4090n71 2 36234999 36285895 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873875,nsv873877 M 6533 0 4 "" MS21868,SP50522,SP51182,SP54833 esv34674 2 36236970 36275853 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979303,essv6979302,essv6988148 M 771 0 1 "" NA18524 nsv873876 2 36240665 36272085 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581353 S 6533 0 1 "" IS35572 nsv9602 2 36242285 36243719 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27739 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv213651 2 36243003 36243804 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232229 M 24 "" nsv9613 2 36245006 36247148 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28138,nssv27636 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA19132 esv1932753 2 36248216 36248743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598880 S 1 0 1 "" NA18507 esv3233 2 36248410 36248664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25674 S 1 0 1 Single Asian sample YH "" YH esv1663764 2 36262949 36262949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722153 S 2 1 0 "" HuRef nsv819189 2 36263684 36264490 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418813 S 2 0 1 "" AK1 esv1259875 2 36263741 36263741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763513 S 2 1 0 "" HuRef esv1512097 2 36264703 36264703 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758814 S 2 1 0 "" HuRef esv1190214 2 36264852 36264852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317509 S 2 1 0 "" HuRef esv269396 2 36312939 36313024 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513935 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv269470 2 36330166 36330525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517049,essv2517994,essv2519025 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12872,NA19141 esv270739 2 36371288 36371612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576004,essv2521098,essv2570385,essv2550632,essv2554151,essv2544422,essv2547207,essv2558455,essv2578652,essv2536972,essv2567041,essv2537771 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11830,NA11894,NA12044,NA12155,NA12287,NA12414,NA12717,NA12750,NA18510,NA18517,NA18947 nsv508837 2 36399328 36428223 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619900,nssv621164 M 4 2 0 "" NA10860,NA15510 nsv2680 2 36418422 36449235 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4411,nssv5782,nssv2260 M 9 3 0 CRIM1,LOC100288911 NA12878,NA18555,NA19129 esv992104 2 36423304 36423746 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564468 S 3 1 0 "" HuRef nsv833803 2 36442569 36599283 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441871,nssv1441869,nssv1441870,nssv1441865,nssv1441867,nssv1441868,nssv1441866,nssv1441876,nssv1441872,nssv1441875,nssv1441873,nssv1441877,nssv1441878,nssv1441879 M 95 14 0 CRIM1 dgv1171e1 2 36476410 36510809 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8980,esv1145 M 271 0 0 CRIM1 NA19139 esv2536024 2 36585164 36586910 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174884 S 1 0 1 CRIM1 NA18507 esv1790942 2 36586211 36586465 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627704 S 2 0 1 CRIM1 HuRef nsv213151 2 36586212 36586465 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231729 M 24 CRIM1 nsv2681 2 36676494 36701675 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5783 S 9 0 1 FEZ2 NA19129 esv1120925 2 36685447 36685447 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775825 S 2 1 0 "" HuRef esv21570 2 36689933 36694112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18169 S 451 0 1 "" NA19129 nsv523146 2 36702724 36751413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698854 S 2026 0 1 "" nsv526283 2 36704768 36734335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702562 S 2026 0 1 "" nsv507005 2 36716700 36722700 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617557,nssv621992 M 4 2 0 "" CHM,NA10860 esv22838 2 36748539 36751492 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11690 S 451 1 0 "" NA19240 nsv828908 2 36752779 36753554 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439521 S 31 1 0 "" NA18537 nsv873878 2 36762165 36795770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593335 S 6533 0 1 VIT IS39408 esv9230 2 36809174 36809519 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31671 S 1 0 1 VIT SJK esv1427533 2 36809178 36809494 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3868881 S 2 0 1 VIT HuRef nsv525132 2 36812990 36818255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701200 S 2026 0 1 VIT nsv820661 2 36839659 36844552 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420148 S 1 0 1 VIT NA10851 nsv828920 2 36839659 36844552 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431890 S 31 0 1 VIT AK20 esv24650 2 36839799 36844533 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14542 S 451 39 0 VIT NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819346 2 36839875 36844580 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419654 S 2 1 0 VIT AK1 nsv428395 2 36843852 37153856 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453764 S 62 1 0 HEATR5B,STRN,VIT HGDP00476 esv1722218 2 36857754 36857754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632004 S 2 1 0 VIT HuRef nsv2682 2 36869054 36913936 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7483 S 9 0 1 VIT NA12156 dgv1172e1 2 36900857 36902455 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv942,essv17680 M 271 0 0 "" NA10835 nsv456363 2 36962785 37088828 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533696 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HEATR5B,STRN HGDP00476 nsv828931 2 37000497 37010058 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423195 S 31 1 0 STRN NA18999 nsv828942 2 37009472 37016435 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436413 S 31 0 1 STRN NA18542 nsv873879 2 37053537 37152649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579387 S 6533 0 1 HEATR5B IS35100 nsv511779 2 37200422 37202547 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626428 S 1 0 1 EIF2AK2 1 nsv512770 2 37246611 37247391 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625401 S 1 1 0 "" 1 nsv2683 2 37253982 37257338 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5784 S 9 1 0 SULT6B1 NA19129 nsv2684 2 37284003 37316937 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4412,nssv7485 M 9 2 0 C2orf56,CEBPZ,LOC100505876 NA12156,NA12878 nsv828953 2 37358617 37359801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436414 S 31 0 1 PRKD3 NA18542 nsv2685 2 37403600 37448427 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7486 S 9 0 1 QPCT NA12156 nsv2686 2 37428171 37461190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5785 S 9 1 0 QPCT NA19129 nsv833814 2 37496636 37693751 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441880 S 95 1 0 "" nsv456374 2 37522991 37721718 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533707 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00880 nsv470453 2 37522991 37721718 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547193 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00880 nsv2687 2 37613848 37647972 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7487 S 9 1 0 "" NA12156 esv7535 2 37642611 37642700 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29976 S 1 1 0 "" SJK dgv1173e1 2 37650158 37992443 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16234,essv12297,esv643,essv23076,essv361 M 271 0 0 CDC42EP3 NA12812,NA18971,NA19138,NA19161 nsv833825 2 37661673 37839421 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441881 S 95 1 0 CDC42EP3 nsv873880 2 37721718 37779550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552079 S 6533 0 1 CDC42EP3 MS19161 nsv508081 2 37738298 37744298 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621521,nssv622338 M 4 0 2 CDC42EP3 NA10860,NA15510 dgv1174e1 2 37762891 37858812 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10711,essv20976,essv13820 M 271 0 0 "" NA10863,NA18508,NA18853 dgv1175e1 2 37789642 37857935 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19847,essv5610,essv19810,essv20541,essv6407,essv20495 M 271 0 0 "" NA11995,NA12234,NA12864,NA12874,NA18545,NA18593 esv992207 2 37801257 37855968 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586421 S 3 1 0 "" HuRef esv32731 2 37803266 37867915 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101607,essv101093,essv94822,essv101392,essv97313,essv92681,essv97171,essv98599,essv96059,essv93525,essv99597,essv92554,essv96574,essv99144,essv100479,essv99386,essv96322 M 51 6 11 "" 21603,21693,21791,21805,21879,21944,22075,22085,22127,22128,22217,22233,22261,22275,22298,22335,22371 nsv9624 2 37810421 37856762 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27154,nssv28148,nssv26374,nssv27830,nssv28583,nssv27744,nssv23997,nssv25451,nssv25462,nssv24566,nssv27838,nssv28259,nssv24572,nssv28672,nssv27031,nssv25704,nssv25946 M 31 6 11 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA10863,NA12740,NA12872,NA18504,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA18972,NA18975,NA19007,NA19132,NA19173 nsv819538 2 37811156 37856685 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418739 S 2 0 1 "" AK1 nsv820851 2 37811233 37859388 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420159 S 1 1 0 "" NA10851 nsv828964 2 37811233 37859388 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438647,nssv1434242,nssv1435711,nssv1421524,nssv1425572,nssv1436740,nssv1428093,nssv1440892,nssv1422433,nssv1426464,nssv1429628,nssv1436415,nssv1438008,nssv1424645,nssv1434925,nssv1432658,nssv1430413,nssv1423198,nssv1428886,nssv1427331 M 31 20 0 "" AK10,AK12,AK14,AK16,AK4,AK6,AK8,NA18542,NA18552,NA18566,NA18570,NA18592,NA18942,NA18947,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 esv23932 2 37811582 37859388 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10094 S 451 3 2 "" NA12239,NA12414,NA18508,NA18909,NA19099 dgv1176e1 2 37814216 37843583 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1302,essv17678,essv2140,essv19037,essv11596,essv19483,essv22289,essv24032,essv19836 M 271 0 0 "" NA07034,NA10835,NA10847,NA12750,NA12762,NA12873,NA18978,NA18980,NA19207 dgv1177e1 2 37814406 37856989 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8721,essv24112 M 271 0 0 "" NA07048,NA19200 nsv213183 2 37816892 37817196 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231761 M 24 "" nsv833836 2 37819847 37967581 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441884,nssv1441883,nssv1441882 M 95 3 0 "" nsv214183 2 37819888 37819888 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232761 M 24 "" dgv1178e1 2 37839235 37843377 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23299,essv19335 M 271 0 0 "" NA12006,NA12872 essv25162 2 37839235 37856989 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11839 essv14212 2 37840628 37842945 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18913 esv992544 2 37894416 37894471 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578848 S 3 0 1 "" HuRef nsv9635 2 37985543 37987786 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27933 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv2578410 2 37998518 37999882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163933 S 1 0 1 "" NA18507 nsv516007 2 38006211 38006323 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687108,nssv667289,nssv671057,nssv661959,nssv691874,nssv655404,nssv656892,nssv673406,nssv688469,nssv651823,nssv674166,nssv655002,nssv687027,nssv675702,nssv691080,nssv674093,nssv672181,nssv667947,nssv652408,nssv656056,nssv655365,nssv694013,nssv659430,nssv685536,nssv678600,nssv674683,nssv669434,nssv674851,nssv672242,nssv663001,nssv658350,nssv676360,nssv692246,nssv680839,nssv657187,nssv682134,nssv659269,nssv663285,nssv686812,nssv674752,nssv661843,nssv672989,nssv673345,nssv670653,nssv655691,nssv669155,nssv682328,nssv698668,nssv666759,nssv669805,nssv674235,nssv665869,nssv670965,nssv690289,nssv658383,nssv652936,nssv669937,nssv673710,nssv657004,nssv673829,nssv693881,nssv682705,nssv675603,nssv664143,nssv654700,nssv664383,nssv682493,nssv688912,nssv664431,nssv679338,nssv672767,nssv683168,nssv666259,nssv692428,nssv662410,nssv677733,nssv676867,nssv686680,nssv691984,nssv676750,nssv669970,nssv693638,nssv656784,nssv670783,nssv652177,nssv692894,nssv658977,nssv681598,nssv679501 M 2026 1 88 FAM82A1 nsv9646 2 38211815 38935693 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27848 S 31 0 1 Samples from several populations that are part of the HapMap project. ATL2,CYP1B1-AS1,DHX57,GALM,GEMIN6,HNRPLL,SRSF7 NA19240 esv2245622 2 38222744 38223136 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755449 S 1 0 1 CYP1B1-AS1 NA18507 esv21528 2 38224470 38227117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12178 S 451 0 1 CYP1B1-AS1 NA12156 nsv2689 2 38262491 38293524 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11011 S 9 1 0 CYP1B1-AS1 NA15510 nsv522806 2 38268045 38301027 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698451 S 2026 1 0 "" nsv528297 2 38360429 38362287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704872 S 2026 0 1 "" esv2176515 2 38406118 38406526 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590155 S 1 0 1 ATL2 NA18507 nsv2690 2 38500851 38507928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3015 S 9 1 0 "" NA18555 nsv520646 2 38510385 38513161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697535 S 2026 0 1 "" nsv522259 2 38521840 38589594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695039 S 2026 0 1 "" nsv527429 2 38529042 38529467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703868 S 2026 0 1 "" esv1091303 2 38568111 38568215 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691187 S 2 0 1 "" HuRef nsv213192 2 38569262 38571464 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231770 M 24 "" nsv526489 2 38585278 38589594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702798 S 2026 0 1 "" nsv873881 2 38599128 38731140 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525426 S 6533 1 0 HNRPLL SP56580 nsv527492 2 38606841 38613301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703940 S 2026 0 1 "" nsv2691 2 38612975 38638818 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10210 S 9 1 0 "" NA18956 esv2468665 2 38630353 38631802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214908 S 1 0 1 "" NA18507 esv2050254 2 38704745 38705431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583471 S 1 0 1 "" NA18507 nsv528170 2 38706599 38707528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704719 S 2026 0 1 "" nsv873882 2 38712173 38775002 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591835,nssv1575843 M 6533 0 2 GALM IS33830,IS39057 esv26514 2 38725454 38736025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14023 S 451 0 2 "" NA18909,NA19108 nsv442713 2 38727303 38730104 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421758 2 38727303 38734610 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5134685,essv5023964,essv5064921,essv5132579,essv5055331,essv5074487,essv5068750,essv5133855,essv5031272,essv5089137,essv5062902,essv5155521,essv5119781,essv5012120,essv5084796,essv5043664,essv5136292,essv5029203,essv5152974,essv5021759,essv5022504,essv5041897,essv5108767,essv5137157,essv5096130,essv5062144,essv5152275,essv5136173,essv5114168,essv5145402,essv5013248,essv5124339 M 1184 0 32 "" NA18909,NA18911,NA18934,NA19035,NA19093,NA19094,NA19108,NA19141,NA19142,NA19149,NA19160,NA19161,NA19189,NA19191,NA19203,NA19214,NA19223,NA19381,NA19446,NA19462,NA19712,NA19771,NA19772,NA19982,NA20289,NA20290,NA20317,NA20319,NA20341,NA20364,NA21352,NA21583 nsv516043 2 38727681 38734610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665870,nssv683082,nssv674028,nssv660935,nssv659297,nssv676219,nssv683894,nssv662203,nssv677241 M 2026 0 9 "" nsv817740 2 38727681 38734610 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418459,nssv1418470 M 112 0 2 "" NA19141,NA19142 nsv873883 2 38734610 38786281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592038 S 6533 0 1 GALM IS39194 nsv213847 2 38748015 38748342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232425 M 24 GALM nsv820974 2 38798962 38826475 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420170 S 1 1 0 GALM,SRSF7 NA10851 nsv828975 2 38799170 38799871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434243 S 31 0 1 GALM NA18570 nsv828986 2 38806452 38808018 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431891 S 31 0 1 GALM AK20 nsv819664 2 38809041 38826440 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418667 S 2 0 1 GALM,SRSF7 AK1 nsv828997 2 38809169 38826475 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425573 S 31 0 1 GALM,SRSF7 AK4 nsv441752 2 38809366 38825785 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GALM,SRSF7 esv2421335 2 38809370 38825785 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005580,essv5059785,essv5064179,essv5102850,essv5135522,essv5067642,essv5053371,essv5034683,essv5002231,essv5154709,essv5064699,essv5068084,essv5021313,essv5031818,essv5121969,essv5022409,essv5142287,essv5144588,essv5039692,essv5053571,essv5050770,essv5093095,essv5085628,essv5125624,essv5153279,essv5136513,essv5117157,essv5079788,essv5049244,essv5156727,essv5133550 M 1184 31 0 GALM,SRSF7 NA06994,NA07000,NA07022,NA07029,NA07347,NA10839,NA10845,NA11892,NA11931,NA12005,NA12056,NA12249,NA12283,NA12343,NA12348,NA12763,NA12767,NA12778,NA12812,NA12817,NA19046,NA19794,NA20126,NA20128,NA20287,NA20288,NA20521,NA21301,NA21344,NA21418,NA21647 esv24300 2 38809381 38826334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20771 S 451 0 38 GALM,SRSF7 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv518220 2 38810451 38818065 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694213 S 2026 1 0 GALM nsv817751 2 38810451 38818065 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416031,nssv1415613 M 112 2 0 GALM NA12249,NA12812 esv268479 2 38898303 38903648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514306 S 157 1 0 Samples from several populations that are part of the HapMap project. DHX57 NA12874 nsv2692 2 38919272 38965375 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6832 S 9 0 1 DHX57,MORN2 NA12156 esv4781 2 38924869 38925447 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27222 S 1 0 1 Single Asian sample YH DHX57 YH esv1005417 2 38924984 38925325 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567241 S 3 0 1 DHX57 HuRef esv1777011 2 38924994 38925336 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763543 S 2 0 1 DHX57 HuRef esv6905 2 38924996 38925361 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29346 S 1 0 1 DHX57 SJK nsv873884 2 39007967 39185597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513912 S 6533 0 1 ARHGEF33,LOC375196,SOS1 SP55878 nsv873885 2 39053702 39427025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582311 S 6533 0 1 ARHGEF33,CDKL4,MAP4K3,SOS1 IS35911 esv1269226 2 39159801 39159801 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075705 S 2 1 0 SOS1 HuRef esv2552919 2 39168202 39169143 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256863 S 1 1 0 SOS1 NA18507 esv271949 2 39168808 39169146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514674,essv2519297,essv2517497,essv2514192,essv2518832,essv2514830,essv2518623,essv2514933,essv2516338,essv2516048,essv2514213,essv2517878,essv2517326,essv2519423 M 157 14 0 Samples from several populations that are part of the HapMap project. SOS1 NA07346,NA11840,NA11894,NA11918,NA12043,NA12045,NA12234,NA12287,NA12812,NA12814,NA12873,NA12874,NA12878,NA18970 esv273433 2 39168808 39169146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581377 S 7 1 0 Samples from several populations that are part of the HapMap project. SOS1 NA12878 esv1618069 2 39168843 39168843 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820052 S 2 1 0 SOS1 HuRef nsv833847 2 39264266 39458144 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441886 S 95 0 1 CDKL4,MAP4K3 esv1085195 2 39266043 39266095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327291 S 2 0 1 CDKL4 HuRef nsv2693 2 39322145 39367304 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7488 S 9 0 1 MAP4K3 NA12156 dgv4091n71 2 39322180 39455393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873886,nsv873887 M 6533 0 3 MAP4K3 IS38463,SP55851,SP56119 nsv873888 2 39362334 39427025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515753 S 6533 0 1 MAP4K3 SP56267 esv6749 2 39381487 39381578 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29190 S 1 1 0 MAP4K3 SJK nsv2694 2 39385769 39420882 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1489 S 9 1 0 MAP4K3 NA19240 esv2582384 2 39477277 39478797 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191941 S 1 0 1 MAP4K3 NA18507 nsv2695 2 39496725 39541519 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7489 S 9 0 1 LOC728730,MAP4K3 NA12156 esv2442819 2 39508303 39509806 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176701 S 1 0 1 MAP4K3 NA18507 nsv215442 2 39530138 39535387 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234020 M 24 LOC728730 nsv833858 2 39537987 39710002 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441887 S 95 1 0 LOC728730 nsv873889 2 39683687 39803986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530095 S 6533 0 1 TMEM178 MS10203 nsv833870 2 39690526 39879528 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441888 S 95 1 0 THUMPD2,TMEM178 nsv833881 2 39768062 39920760 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441889 S 95 0 1 THUMPD2,TMEM178 nsv873890 2 39830314 39862545 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500137 S 6533 1 0 THUMPD2 SP50081 nsv2696 2 39841885 39886792 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7490 S 9 0 1 THUMPD2 NA12156 nsv873891 2 39900162 40027409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519828 S 6533 0 1 LOC100128590 SP50569 nsv507006 2 39906698 39912698 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620714,nssv623332 M 4 2 0 "" NA15510,NA18994 nsv873892 2 39956268 39992754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589067 S 6533 0 1 "" IS38293 dgv4092n71 2 39991446 40100220 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873893,nsv873897,nsv873898 M 6533 0 3 LOC100128590 IS41804,MS23983,SP56965 dgv4093n71 2 39992754 40062169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873895,nsv873896,nsv873894 M 6533 0 6 LOC100128590 MS16772,MS17203,MS19487,MS20717,MS21159,MS24940 dgv449n27 2 40005386 40062169 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456385,nsv456407 M 1557 0 2 LOC100128590 HGDP00146,HGDP00428 nsv873899 2 40014672 40135468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502026 S 6533 0 1 LOC100128590 SP51145 nsv2697 2 40024161 40056854 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5786 S 9 1 0 LOC100128590 NA19129 nsv833892 2 40042289 40216984 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441890 S 95 0 1 LOC100128590,SLC8A1 nsv873900 2 40056009 40132413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505517 S 6533 0 1 LOC100128590 SP53601 nsv519483 2 40060842 40089092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694331 S 2026 0 1 LOC100128590 nsv873901 2 40060842 40118365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512679,nssv1502558 M 6533 2 0 LOC100128590 SP51254,SP55573 dgv4094n71 2 40084786 40319772 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv873902,nsv873904 M 6533 3 0 LOC100128590,SLC8A1 MS10821,MS21194,MS22999 nsv873903 2 40138649 40236216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557218 S 6533 1 0 LOC100128590,SLC8A1 MS22499 esv275350 2 40186355 40191571 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585226,essv2586065 M 1250 1 1 LOC100128590 nsv873905 2 40195351 40218399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600262 S 6533 0 1 LOC100128590,SLC8A1 IS41866 dgv4095n71 2 40195351 40238549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873906,nsv873907 M 6533 0 2 LOC100128590,SLC8A1 IS30700,MS22756 nsv873908 2 40204957 40224599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577411,nssv1577797 M 6533 0 2 LOC100128590,SLC8A1 IS34440,IS34572 nsv873909 2 40212030 40224599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556708,nssv1555127 M 6533 0 2 LOC100128590,SLC8A1 MS21195,MS22122 nsv873910 2 40245411 40319772 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557219 S 6533 1 0 LOC100128590,SLC8A1 MS22499 dgv215n21 2 40271890 40305228 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526074,nsv526425 M 2026 0 2 LOC100128590,SLC8A1 nsv873911 2 40276958 41014968 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577757 S 6533 1 0 LOC100128590,SLC8A1 IS34555 esv34071 2 40288735 40431733 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC100128590,SLC8A1 esv4917 2 40300286 40300652 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27358 S 1 0 1 Single Asian sample YH LOC100128590,SLC8A1 YH esv995388 2 40300450 40300576 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584655 S 3 0 1 LOC100128590,SLC8A1 HuRef esv1125657 2 40300451 40300578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666192 S 2 0 1 LOC100128590,SLC8A1 HuRef nsv524586 2 40301091 40351005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700544 S 2026 0 1 LOC100128590,SLC8A1 nsv873912 2 40321922 40345819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554723 S 6533 0 1 LOC100128590,SLC8A1 MS20947 nsv873913 2 40323209 40338578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561160 S 6533 0 1 LOC100128590,SLC8A1 MS24868 esv2234750 2 40334918 40335350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562619 S 1 0 1 LOC100128590,SLC8A1 NA18507 esv991008 2 40335101 40335156 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575025 S 3 0 1 LOC100128590,SLC8A1 HuRef esv1427276 2 40335127 40335183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350477 S 2 0 1 LOC100128590,SLC8A1 HuRef dgv1179e1 2 40401451 40587280 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv357,essv19955 M 271 0 0 SLC8A1 NA12813 esv2536757 2 40423132 40424744 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245277 S 1 0 1 SLC8A1 NA18507 nsv873914 2 40426854 40439526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577818,nssv1562474 M 6533 0 2 SLC8A1 IS34573,MS25617 nsv873915 2 40426854 40469024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513293,nssv1526435 M 6533 0 2 SLC8A1 SP55717,SP57575 nsv516330 2 40429851 40433452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667622,nssv691505,nssv672551 M 2026 0 3 SLC8A1 nsv2698 2 40447989 40482563 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3016 S 9 1 0 SLC8A1 NA18555 nsv873916 2 40461008 40502588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568720 S 6533 1 0 SLC8A1 IS31334 nsv9658 2 40465513 40469224 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28623 S 31 0 1 Samples from several populations that are part of the HapMap project. SLC8A1 NA18517 esv25665 2 40465808 40468286 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20227 S 451 0 8 SLC8A1 NA18508,NA18511,NA18517,NA18916,NA19108,NA19129,NA19147,NA19225 esv274519 2 40467159 40467457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582019,essv2582310,essv2583002 M 7 3 0 Samples from several populations that are part of the HapMap project. SLC8A1 NA12878,NA12891,NA12892 esv270790 2 40467159 40467498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571801,essv2525841,essv2556784,essv2545650,essv2531829,essv2577452,essv2521619,essv2576661,essv2535228,essv2520360,essv2564470,essv2559674,essv2565346,essv2554845,essv2537412,essv2528292,essv2546863,essv2557432,essv2552697,essv2551833,essv2578528,essv2561540,essv2540629,essv2561026,essv2519496,essv2528741,essv2535793,essv2559301,essv2556129,essv2555692,essv2527474,essv2557720,essv2556079,essv2545091,essv2549837,essv2551245,essv2536073,essv2538161,essv2548974,essv2533244,essv2554366,essv2547772,essv2563515,essv2558209 M 157 44 0 Samples from several populations that are part of the HapMap project. SLC8A1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11840,NA11918,NA11994,NA12003,NA12006,NA12043,NA12144,NA12154,NA12249,NA12716,NA12751,NA12776,NA12812,NA12872,NA12878,NA12891,NA12892,NA18499,NA18502,NA18504,NA18510,NA18523,NA18552,NA18562,NA18566,NA18579,NA18608,NA18638,NA18871,NA18945,NA18952,NA18953,NA18956,NA19172,NA19225,NA19257 nsv2700 2 40520965 40566309 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6833 S 9 0 1 SLC8A1 NA12156 nsv873917 2 40564457 40869502 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539088 S 6533 1 0 SLC8A1 MS14147 nsv441753 2 40617671 40622406 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514063 2 40618708 40621536 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628280 S 1414 0 1 "" nsv456418 2 40658931 40702054 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533744 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01237 nsv873918 2 40658931 40743920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579388 S 6533 0 1 "" IS35100 nsv528865 2 40658931 41072314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705545 S 2026 0 1 "" nsv873919 2 40668742 40706821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570263 S 6533 0 1 "" IS31849 nsv470454 2 40668742 40749889 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547194,nssv547195 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00697,HGDP00710 nsv456429 2 40676530 40749889 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533752 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00710 dgv4096n71 2 40686646 40743920 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873920,nsv873923 M 6533 0 20 "" IS31054,IS31123,IS31259,IS31546,IS31706,IS32615,IS34962,IS35229,IS35742,IS39011,IS39944,IS41068,MS10611,MS12827,MS13426,MS13727,MS15312,MS17611,MS18847,MS18978 dgv4097n71 2 40688789 40729617 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873922,nsv873921 M 6533 0 10 "" IS30432,IS31554,IS36785,IS38065,IS39718,IS39784,IS40067,IS41043,IS41292,MS18620 nsv873924 2 40688789 40779642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568095,nssv1534936,nssv1581059,nssv1567634 M 6533 0 4 "" IS31137,IS31205,IS35498,MS11836 dgv4098n71 2 40688789 40840364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873925,nsv873926 M 6533 0 2 "" IS38993,MS10802 nsv470455 2 40688789 40912668 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547199,nssv547197,nssv547198,nssv547202,nssv547200,nssv547196 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864,HGDP00876,HGDP00883,HGDP00892,HGDP00895,HGDP00903 dgv4099n71 2 40688789 40928638 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873927,nsv873928 M 6533 0 3 "" IS30539,IS31581,MS20872 nsv873929 2 40688789 41034194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582910 S 6533 0 1 "" IS36219 nsv873930 2 40691457 40711033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515754 S 6533 0 1 "" SP56267 esv28413 2 40714921 40716275 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15118 S 451 0 1 "" NA19108 nsv873931 2 40722669 40820223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538114 S 6533 0 1 "" MS13490 nsv873932 2 40733547 40766101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505546 S 6533 0 1 "" SP53687 esv2290258 2 40735821 40736251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666750 S 1 0 1 "" NA18507 nsv456441 2 40735906 40918328 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533760 S 1557 0 1 "" 1780862310_A nsv518438 2 40735923 40738151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695874 S 2026 0 1 "" nsv456452 2 40743920 40842565 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533766 S 1557 0 1 "" 1780854449_A esv34871 2 40775602 40805171 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988254,essv6979834 M 771 0 1 "" NA18637 dgv622n67 2 40780506 40802808 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829008,nsv829019 M 31 0 2 "" NA18582,NA18592 nsv441754 2 40780879 40803106 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514064 2 40782536 40802660 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628292 S 1414 0 0 "" dgv1180e1 2 40784225 40820223 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv951,essv6458,essv6433,essv7445 M 271 0 0 "" NA18582,NA18592,NA18637 nsv456463 2 40784562 40793815 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv533773 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01193 nsv526113 2 40785424 40793815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702362 S 2026 0 1 "" nsv9669 2 40805231 40813288 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27844 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2547602 2 40830461 40832093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326726 S 1 0 1 "" NA18507 esv1948221 2 40831471 40832163 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844371 S 1 0 1 "" NA18507 esv4273 2 40831607 40832161 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26714 S 1 0 1 Single Asian sample YH "" YH nsv214500 2 40831655 40831986 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233078 M 24 "" esv6621 2 40831657 40831996 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29062 S 1 0 1 "" SJK nsv873933 2 40842565 40928638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566006 S 6533 0 1 "" IS30553 nsv518293 2 40912669 41115496 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695724 S 2026 1 0 "" nsv2701 2 40927138 40961520 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1490 S 9 1 0 "" NA19240 nsv520704 2 40933337 40960524 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697567 S 2026 1 0 "" dgv4100n71 2 40956727 41129076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873937,nsv873934,nsv873935 M 6533 0 3 "" IS33533,IS41043,MS18847 nsv873936 2 40956727 41219655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580054 S 6533 0 1 "" IS35229 esv1961629 2 40971656 40972044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855312 S 1 0 1 "" NA18507 nsv873938 2 40990337 41092148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558603 S 6533 0 1 "" MS23423 esv23231 2 41000735 41004275 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15825 S 451 0 1 "" NA12287 nsv873939 2 41035318 41109046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531249 S 6533 0 1 "" MS10386 nsv507007 2 41044495 41050495 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617558,nssv621993 M 4 2 0 "" CHM,NA10860 nsv873940 2 41051212 41201323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579790 S 6533 0 1 "" IS35181 nsv518255 2 41053117 41099005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695685 S 2026 0 1 "" nsv523251 2 41067128 41095773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698980 S 2026 0 1 "" esv6880 2 41069449 41070174 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29321 S 1 0 1 "" SJK esv6301 2 41070127 41070186 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28742 S 1 1 0 "" SJK dgv450n27 2 41073046 41099005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456518,nsv456529,nsv456496,nsv456507,nsv456485 M 1557 0 5 "" 1780854444_A,HGDP00108,NINDS_169,NINDS_212,NINDS_236 nsv515841 2 41073046 41129076 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673087,nssv675445,nssv673949,nssv685489,nssv662626,nssv691081,nssv679408,nssv693814,nssv667975,nssv652472,nssv673790,nssv660091,nssv688224,nssv652049,nssv686955,nssv661683,nssv691516,nssv669774,nssv688886,nssv678622,nssv688492,nssv657499,nssv660936,nssv663855,nssv652100,nssv676035,nssv674412,nssv664063,nssv662253,nssv667447,nssv653357,nssv657991,nssv684621,nssv666477,nssv691113,nssv672182,nssv680229,nssv661908,nssv676057,nssv684026,nssv666717,nssv680798,nssv677025,nssv677697,nssv669971,nssv677194,nssv665667,nssv652178,nssv675579,nssv656572,nssv653083,nssv666877,nssv691383,nssv691908,nssv672318,nssv672566,nssv653032,nssv682232,nssv670047,nssv652432,nssv682867,nssv657397,nssv669834,nssv661299,nssv652691,nssv680245,nssv676282,nssv665416,nssv688913,nssv654446,nssv678011,nssv690588,nssv661149,nssv681508,nssv660897,nssv687175,nssv672552,nssv659749,nssv680973,nssv685712,nssv669303,nssv669752,nssv673206,nssv657920,nssv692710,nssv674607,nssv670885,nssv655384,nssv655183,nssv674591,nssv653259,nssv679855,nssv660626,nssv672665,nssv677304,nssv693679,nssv652841,nssv691727,nssv690311,nssv686294,nssv659201,nssv657479,nssv686716,nssv682985,nssv673732,nssv689917,nssv666651,nssv692348,nssv674254,nssv659822,nssv676424,nssv654057,nssv688154,nssv692807,nssv688451,nssv658328,nssv681998,nssv665173,nssv657443,nssv691754,nssv671152,nssv692404,nssv673567,nssv678302,nssv665929,nssv668975,nssv689760,nssv684719,nssv685269,nssv655003,nssv692080,nssv662019,nssv678193,nssv654181,nssv663263,nssv691062,nssv673711,nssv688049,nssv687028,nssv655331,nssv690184,nssv681609,nssv656144,nssv663128,nssv666347,nssv688840,nssv669052,nssv675846,nssv680086,nssv667428,nssv688174,nssv666674,nssv654805,nssv689266,nssv661636,nssv679676,nssv664353,nssv672627,nssv667880,nssv670123,nssv680629,nssv679428,nssv669938,nssv668315,nssv677772,nssv680396,nssv695658,nssv659102,nssv652384,nssv665126,nssv662685,nssv662229,nssv688795,nssv664036,nssv663024,nssv663760,nssv691608,nssv662428,nssv652978,nssv691793,nssv681396,nssv670756,nssv687214,nssv681163,nssv663559,nssv658539,nssv693499,nssv662165,nssv692546,nssv670316,nssv671005,nssv668555,nssv660275,nssv674981,nssv692379,nssv668230,nssv681123,nssv690913,nssv659664,nssv674309,nssv685119,nssv664899,nssv671644,nssv682883,nssv671092,nssv686004,nssv661469,nssv654257,nssv676960,nssv672138,nssv663303,nssv659612,nssv676990,nssv658675,nssv680322,nssv664710,nssv680859,nssv678647,nssv686554,nssv657345,nssv664673,nssv675174,nssv666194,nssv670207,nssv661324,nssv678848,nssv661564,nssv666001,nssv682450,nssv690133,nssv672867,nssv665631,nssv689508,nssv682753,nssv685046,nssv672286,nssv671125,nssv662846,nssv656009,nssv668512,nssv663897,nssv694181,nssv689360,nssv655472,nssv693906,nssv654428,nssv684150,nssv689070,nssv675061,nssv657720,nssv668011,nssv681532,nssv679300,nssv651944,nssv682768,nssv660835,nssv681696,nssv691943,nssv687963,nssv662764,nssv666970,nssv683083,nssv666154,nssv652718,nssv685962,nssv679085,nssv682494,nssv671626,nssv691652,nssv671265,nssv692632,nssv663798,nssv666787,nssv687524,nssv681043,nssv683839,nssv656057,nssv664368,nssv664565,nssv681083,nssv683224,nssv675670,nssv678170,nssv691506,nssv675261,nssv656653,nssv657254,nssv673677,nssv652626,nssv686024,nssv666826,nssv663947,nssv688383,nssv659990,nssv671851,nssv671021,nssv688071,nssv693746,nssv674218,nssv675149,nssv687586,nssv689554,nssv677532,nssv658657,nssv684363,nssv653785,nssv686277,nssv676341,nssv701656,nssv698915,nssv680305,nssv660307,nssv681627,nssv689340,nssv653703,nssv675411,nssv665732,nssv687244,nssv689581,nssv684934,nssv673281,nssv682743,nssv662048,nssv661984,nssv655149,nssv680452,nssv660471,nssv659144,nssv655405,nssv659359,nssv684649,nssv674508,nssv689217,nssv653923,nssv652197,nssv689288,nssv688283,nssv681358,nssv680840,nssv678675,nssv657873,nssv675367,nssv667090,nssv660058,nssv655608,nssv673830,nssv668851,nssv679712,nssv690013,nssv668634 M 2026 9 341 "" dgv4101n71 2 41079931 41109046 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873943,nsv873946,nsv873941,nsv873942 M 6533 0 332 "" IS30152,IS30179,IS30201,IS30226,IS30235,IS30297,IS30311,IS30325,IS30363,IS30398,IS30479,IS30515,IS30616,IS30645,IS30826,IS30835,IS30953,IS31227,IS31766,IS31812,IS31821,IS31879,IS32312,IS32523,IS32871,IS32999,IS33055,IS33073,IS33263,IS33406,IS33522,IS33580,IS33592,IS33776,IS33832,IS33850,IS34059,IS34184,IS34363,IS34416,IS34477,IS34508,IS34573,IS34612,IS34613,IS34632,IS34697,IS34964,IS35007,IS35028,IS35053,IS35100,IS35102,IS35138,IS35255,IS35436,IS35484,IS35519,IS35568,IS35802,IS35968,IS35972,IS36077,IS36411,IS36594,IS36752,IS36820,IS37029,IS37063,IS37338,IS37467,IS37684,IS37946,IS37976,IS38009,IS38016,IS38067,IS38072,IS38108,IS38110,IS38166,IS38186,IS38212,IS38266,IS38365,IS38439,IS38455,IS38464,IS38472,IS38474,IS38475,IS38494,IS38554,IS38557,IS38582,IS38646,IS38670,IS39104,IS39316,IS39386,IS39400,IS39420,IS39438,IS39450,IS39517,IS39526,IS39627,IS39721,IS39996,IS40104,IS40111,IS40307,IS40570,IS40839,IS40874,IS40925,IS41042,IS41102,IS41202,IS41511,IS41758,IS41806,IS41808,IS41909,MS10510,MS10626,MS10698,MS10735,MS10941,MS10968,MS11241,MS11487,MS11552,MS11981,MS12347,MS12938,MS13426,MS13511,MS14266,MS14851,MS14888,MS15036,MS15102,MS15103,MS15347,MS15475,MS15515,MS15601,MS16036,MS16107,MS16206,MS16209,MS16343,MS16408,MS16419,MS16783,MS16822,MS16863,MS17106,MS17120,MS17316,MS17504,MS17562,MS17703,MS17705,MS17723,MS17869,MS17913,MS18053,MS18416,MS18432,MS18784,MS18910,MS18979,MS19159,MS19360,MS19638,MS19705,MS19746,MS20236,MS20367,MS20670,MS20987,MS21118,MS21252,MS21315,MS21460,MS21470,MS21477,MS21677,MS22179,MS22440,MS22524,MS22601,MS23098,MS23174,MS23541,MS23724,MS23875,MS24052,MS24103,MS24193,MS24239,MS24476,MS24651,MS24738,MS24839,MS24886,MS25087,MS25139,MS25177,MS25193,MS25269,MS25699,MS25703,MS25750,MS25853,MS26151,SP50029,SP50081,SP50085,SP50179,SP50548,SP50552,SP50561,SP50684,SP50694,SP50832,SP50856,SP50882,SP50936,SP50963,SP50996,SP51019,SP51051,SP51105,SP51132,SP51179,SP51297,SP51300,SP51391,SP51413,SP51457,SP51486,SP52017,SP52077,SP52114,SP52139,SP52195,SP52376,SP52626,SP52728,SP52902,SP53413,SP53425,SP53539,SP53596,SP54090,SP54110,SP54295,SP54456,SP54544,SP54552,SP54593,SP54680,SP54734,SP55007,SP55034,SP55061,SP55106,SP55125,SP55209,SP55265,SP55339,SP55381,SP55405,SP55462,SP55537,SP55565,SP55662,SP55692,SP55749,SP55764,SP56032,SP56108,SP56143,SP56224,SP56231,SP56289,SP56339,SP56356,SP56385,SP56396,SP56640,SP56663,SP56710,SP56724,SP56807,SP56856,SP56874,SP56875,SP56878,SP56899,SP56904,SP57020,SP57401,SP57410,SP57536,SP57734,SP57925,SP58077,SP58097,SP58114,SP58575,SP80916,SP80924,SP80960,SP80968,SP81009,SP81019,SP81077,SP81088,SP81092,SP81108,SP81182,SP81239,SP81263,SP81276,SP81326,SP81453,SP81469,SP81485 dgv451n27 2 41082092 41099005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456751,nsv456552,nsv456685,nsv456629,nsv456718,nsv456596,nsv456563,nsv456707,nsv456640,nsv456651,nsv456618,nsv456740,nsv456729,nsv456696,nsv456775,nsv456574,nsv456762,nsv456607,nsv456540,nsv456585,nsv456663 M 1557 0 21 "" 1780854418_A,1780854512_A,1780862459_A,1780862539_A,1782681115_A,1798860336_A,HGDP00060,HGDP00302,HGDP01069,HGDP01100,HGDP01189,HGDP01220,HGDP01245,HGDP01254,HGDP01267,HGDP01277,HGDP01284,HGDP01321,HGDP01357,NINDS_167,NINDS_168 dgv452n27 2 41082092 41109046 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456786,nsv456674 M 1557 0 2 "" HGDP00625,NINDS_166 dgv4102n71 2 41083802 41129076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873945,nsv873947,nsv873944 M 6533 0 18 "" IS32365,IS35189,IS35271,IS36170,IS37698,IS38378,IS38463,IS41166,IS41944,MS11054,MS13455,MS15813,MS17359,MS20020,MS20459,MS21117,MS22104,SP51473 dgv58n17 2 41091423 41106569 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437284,nsv437285,nsv437286 M 60 0 3 "" NA19094,NA19139,NA19142 nsv9680 2 41091719 41104562 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27939,nssv26171,nssv28309,nssv27925,nssv27149,nssv24291 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA10863,NA18502,NA18504,NA18853,NA19132,NA19173 esv28097 2 41091877 41104422 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16648 S 451 0 10 "" NA12776,NA18502,NA18508,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19225 dgv623n67 2 41091898 41102344 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829042,nsv829031 M 31 0 3 "" AK18,NA18547,NA18997 nsv442718 2 41091947 41099391 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421939 2 41091947 41101972 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024003,essv5152159,essv5004490,essv5125703,essv5125471,essv5113534,essv5153905,essv5132414,essv5080715,essv5114505,essv5114933,essv5154780,essv5127755,essv5006469,essv5101062,essv5027699,essv5067963,essv5088441,essv5047314,essv5086435,essv5049796,essv5023928,essv5053345,essv5159281,essv5113844,essv5095313,essv5106810,essv5061189,essv5111299,essv5075499,essv5059202,essv5120343,essv5027322,essv5033812,essv5090488,essv5007327,essv5020620,essv5140840,essv5016230,essv5153277,essv5094384,essv5016490,essv5051231,essv5134985,essv5062848,essv5020373,essv5120746,essv5074115,essv5085921,essv5056315,essv5074959,essv5121272,essv5136490,essv5125607,essv5071171,essv5094433,essv5074876,essv5142342,essv5083699,essv5024831,essv5091293,essv5027222,essv5109151,essv5047262,essv5037819,essv5008951,essv5140615,essv5026786,essv5121788,essv5141932,essv5112637,essv5103173,essv5013807,essv5102535,essv5031599,essv5073670,essv5083115,essv5156330,essv5121696,essv5025153,essv5043347,essv5054097,essv5092023,essv5109070,essv5136803,essv5006660,essv5045537,essv5004645,essv5154718,essv5019920,essv5044062,essv5153283,essv5010903,essv5031039,essv5006319,essv5019186,essv5138440,essv5033691,essv5028559,essv5086788,essv5159907,essv5017483,essv5139781,essv5027687,essv5030190,essv5132762,essv5079204,essv5056025,essv5045232,essv5023746,essv5047356,essv5081289,essv5105924,essv5136929,essv5108723,essv5044622,essv5081798,essv5118940,essv5121851,essv5021902,essv5141924,essv5104062,essv5044513,essv5147046,essv5147637,essv5100033,essv5144676,essv5049117,essv5028386,essv5140783,essv5125380,essv5152459,essv5115208,essv5126948,essv5012415,essv5051001,essv5005458,essv5034735,essv5137852,essv5044094,essv5009346,essv5092437,essv5142305,essv5017029,essv5026013,essv5042516,essv5070908,essv5118307,essv5050682,essv5029982,essv5062032,essv5094924,essv5129517,essv5095578,essv5041345,essv5155613,essv5061640,essv5137733,essv5145695,essv5115044,essv5002944,essv5023383,essv5032105,essv5037844,essv5109943,essv5113883,essv5071621,essv5127285,essv5025814,essv5107553,essv5063507,essv5050906,essv5036575,essv5142089,essv5064940,essv5129271,essv5085621,essv5148228,essv5101732,essv5013206,essv5071162,essv5014567,essv5017079,essv5150762,essv5158739,essv5119955,essv5105346,essv5071033,essv5087269,essv5105728,essv5088238,essv5030489,essv5079066,essv5067466,essv5031174,essv5091310,essv5138444,essv5038110,essv5156096,essv5087969,essv5068003,essv5140049,essv5039263,essv5156697,essv5055300,essv5092515,essv5113762,essv5055882,essv5157013,essv5029303 M 1184 0 210 "" NA10863,NA12249,NA12264,NA12335,NA12341,NA12347,NA12386,NA12399,NA12400,NA12707,NA12708,NA12718,NA12776,NA12812,NA12832,NA12842,NA12891,NA17967,NA17975,NA17982,NA18140,NA18484,NA18488,NA18499,NA18500,NA18503,NA18504,NA18506,NA18508,NA18518,NA18520,NA18562,NA18593,NA18595,NA18597,NA18599,NA18612,NA18622,NA18623,NA18694,NA18757,NA18853,NA18854,NA18859,NA18862,NA18863,NA18868,NA18873,NA18875,NA18912,NA18913,NA18916,NA18924,NA18925,NA18930,NA18933,NA18934,NA18995,NA18997,NA19038,NA19041,NA19081,NA19093,NA19094,NA19096,NA19097,NA19098,NA19099,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19118,NA19121,NA19123,NA19127,NA19130,NA19132,NA19137,NA19139,NA19140,NA19141,NA19142,NA19147,NA19148,NA19150,NA19151,NA19152,NA19154,NA19159,NA19172,NA19173,NA19175,NA19178,NA19180,NA19181,NA19183,NA19184,NA19192,NA19193,NA19197,NA19198,NA19199,NA19201,NA19202,NA19209,NA19213,NA19224,NA19225,NA19236,NA19237,NA19248,NA19256,NA19307,NA19313,NA19318,NA19332,NA19346,NA19350,NA19371,NA19373,NA19374,NA19375,NA19379,NA19428,NA19430,NA19431,NA19435,NA19436,NA19445,NA19451,NA19462,NA19472,NA19473,NA19625,NA19663,NA19684,NA19701,NA19703,NA19705,NA19771,NA19772,NA19794,NA19835,NA19836,NA19900,NA19902,NA19917,NA20126,NA20290,NA20300,NA20340,NA20344,NA20345,NA20348,NA20357,NA20358,NA20364,NA20515,NA20541,NA20544,NA20756,NA20774,NA20795,NA20803,NA20804,NA20806,NA20807,NA20811,NA20854,NA20858,NA20879,NA20888,NA20904,NA21089,NA21113,NA21311,NA21316,NA21320,NA21356,NA21357,NA21365,NA21371,NA21378,NA21403,NA21404,NA21418,NA21439,NA21447,NA21489,NA21490,NA21493,NA21494,NA21509,NA21519,NA21523,NA21525,NA21573,NA21577,NA21578,NA21587,NA21597,NA21617,NA21650,NA21716,NA21717,NA21722,NA21739 nsv470456 2 41092147 41116007 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547203,nssv547204 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00470,HGDP01286 dgv453n27 2 41092148 41099005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456863,nsv456874,nsv456919,nsv456852,nsv456841,nsv457074,nsv457085,nsv456808,nsv456886,nsv456908,nsv457096,nsv456830,nsv456819,nsv456897 M 1557 0 14 "" 1780854179_A,1780854436_A,1780854449_A,1780862300_A,HGDP00049,HGDP00587,HGDP00908,HGDP00909,HGDP01166,HGDP01263,HGDP01285,HGDP01419,NINDS_115,NINDS_181 nsv817762 2 41092148 41099005 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417163,nssv1418481,nssv1416905,nssv1418254,nssv1417349,nssv1416132,nssv1417831,nssv1416533,nssv1418492,nssv1418503,nssv1416904,nssv1416705,nssv1417830,nssv1417265,nssv1416534,nssv1418428,nssv1418429,nssv1416032,nssv1416131,nssv1418253,nssv1415614 M 112 1 20 "" NA12249,NA12812,NA12891,NA12892,NA18547,NA18593,NA18612,NA18853,NA18854,NA19093,NA19094,NA19137,NA19139,NA19140,NA19141,NA19142,NA19159,NA19172,NA19173,NA19192,NA19193 nsv817773 2 41092148 41109046 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417183,nssv1417172 M 112 0 2 "" NA10863,NA12264 dgv454n27 2 41092148 41116007 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv456997,nsv456963,nsv456941,nsv456974,nsv457041,nsv457063,nsv457019,nsv457030,nsv457052,nsv457008,nsv456952,nsv456985,nsv456930 M 1557 0 13 "" 1780854009_A,1780854439_A,1780854536_A,1780854594_A,1780862470_A,1782681112_A,HGDP00608,HGDP00644,HGDP00703,HGDP00881,HGDP00924,HGDP01164,NINDS_195 nsv514065 2 41092164 41098908 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628303 S 1414 0 1 "" nsv438315 2 41092614 41100358 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470674,nssv470663,nssv470641,nssv470685,nssv470652,nssv470630 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18504,NA18612,NA18862,NA19130,NA19201 esv32630 2 41093018 41101669 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98705,essv93963,essv101371,essv101768,essv96446,essv97668,essv100512 M 51 0 7 "" 21606,21634,21805,21909,22261,22278,22298 nsv457108 2 41095773 41099005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534374 S 1557 0 1 "" 1782681286_A nsv214690 2 41118288 41121199 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233268 M 24 "" nsv817784 2 41185545 41193536 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417194 S 112 1 0 "" NA12234 nsv457119 2 41227800 41275098 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534380 S 1557 0 1 "" 1798860084_A esv1000036 2 41283111 41283854 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564277 S 3 1 0 "" HuRef nsv873948 2 41322578 41376902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577547 S 6533 0 1 "" IS34489 dgv4103n71 2 41352004 41490525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873952,nsv873951,nsv873956,nsv873949 M 6533 0 13 "" IS34549,IS35146,IS38374,IS38704,MS14653,SP50573,SP50608,SP52353,SP53451,SP55032,SP57534,SP57679,SP81355 dgv4104n71 2 41360393 41413094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873950,nsv873955 M 6533 0 2 "" SP52329,SP58003 dgv4105n71 2 41360563 41436748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873954,nsv873953 M 6533 0 8 "" SP50766,SP52110,SP53885,SP54127,SP54356,SP56064,SP56828,SP56834 nsv873957 2 41385607 41500699 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524443 S 6533 1 0 "" SP55024 nsv873958 2 41436748 41509158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517718 S 6533 0 1 "" SP57367 nsv873959 2 41476693 41509914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514244 S 6533 0 1 "" SP55986 nsv873960 2 41498331 41564061 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500044 S 6533 1 0 "" SP50109 nsv214819 2 41514195 41514418 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233397 M 24 "" esv1540535 2 41514245 41514469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848928 S 2 0 1 "" HuRef nsv457130 2 41523784 41619459 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534389 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00120 nsv873961 2 41619459 41773932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583682 S 6533 0 1 "" IS36591 nsv2702 2 41626015 41674406 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6834 S 9 0 1 "" NA12156 esv2440129 2 41628720 41635438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375413 S 1 0 1 "" NA18507 esv998943 2 41629130 41635010 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564439 S 3 0 1 "" HuRef esv2334707 2 41629281 41634969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646990 S 1 0 1 "" NA18507 dgv624n67 2 41629432 41630762 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829075,nsv829053 M 31 0 5 "" AK12,NA18547,NA18570,NA18951,NA18999 esv1010905 2 41629432 41630762 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586973 S 3 0 1 "" HuRef nsv821152 2 41629432 41636531 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420181 S 1 0 1 "" NA10851 nsv829064 2 41629432 41636531 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436416 S 31 0 1 "" NA18542 esv22940 2 41629512 41634678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16097 S 451 0 3 "" NA12414,NA12749,NA12828 nsv213656 2 41647855 41654389 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232234 M 24 "" nsv523959 2 41667678 41703299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699809 S 2026 0 1 "" nsv2703 2 41670171 41689620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4413 S 9 1 0 "" NA12878 nsv527845 2 41739277 41754400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704343 S 2026 0 1 "" nsv527978 2 41773932 41778940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704494 S 2026 0 1 "" nsv521044 2 41788306 41793712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694414 S 2026 0 1 "" esv28293 2 41817888 41818771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15065 S 451 0 5 "" NA12006,NA12749,NA18511,NA18523,NA19108 nsv508140 2 41819807 41858203 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620180,nssv617459 M 4 0 2 "" CHM,NA15510 esv2624873 2 41826324 41830438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199493 S 1 0 1 "" NA18507 esv2397217 2 41826476 41829569 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628186 S 1 0 1 "" NA18507 nsv511780 2 41826517 41829381 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626429 S 1 0 1 "" 1 dgv79e180 2 41826573 41829381 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997013,esv995839 M 3 0 1 "" HuRef esv3465 2 41826625 41829441 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25906 S 1 0 1 Single Asian sample YH "" YH esv271550 2 41838593 41838921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540799,essv2571605,essv2546445,essv2536741,essv2522855,essv2543875,essv2545679,essv2577548,essv2570421,essv2550786,essv2525505,essv2550385,essv2558319,essv2577815,essv2553680,essv2559469,essv2576296,essv2562097,essv2562710,essv2561446,essv2552946,essv2524449,essv2539914,essv2522287,essv2566195,essv2532466,essv2559008,essv2562531,essv2538532,essv2545083,essv2548712,essv2547738 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA11831,NA11840,NA11881,NA11920,NA11931,NA11992,NA12003,NA12043,NA12044,NA12155,NA12156,NA12234,NA12750,NA12761,NA12763,NA12776,NA12814,NA12874,NA18507,NA18523,NA18542,NA18555,NA18563,NA18571,NA18572,NA18576,NA18638,NA18909,NA19108,NA19172 esv23479 2 41859501 41863038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18339 S 451 0 1 "" NA19099 nsv523175 2 41864664 41871904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698887 S 2026 0 1 "" nsv179 2 41900320 41918270 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv179 S 1 1 0 "" NA15510 nsv2704 2 41900320 41918270 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11012 S 9 1 0 "" NA15510 nsv873962 2 41915543 41967233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583634 S 6533 0 1 LOC388942 IS36559 nsv457141 2 41922802 42055112 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534399 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC388942,LOC400950 HGDP01078 nsv833903 2 42033434 42215232 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441891 S 95 1 0 LOC400950,PKDCC esv274903 2 42071838 42074597 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585536,essv2585361 M 1250 1 1 "" esv1164264 2 42093830 42093830 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791652 S 2 1 0 "" HuRef esv1435647 2 42093849 42093849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644935 S 2 1 0 "" HuRef nsv829086 2 42093879 42098956 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426465 S 31 1 0 "" AK6 esv26899 2 42127992 42129350 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10296 S 451 0 2 PKDCC NA07045,NA12489 nsv873963 2 42160068 42182833 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505547 S 6533 0 1 "" SP53687 nsv873964 2 42188689 42249498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502084 S 6533 1 0 "" SP51021 esv2499079 2 42199478 42201550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238838 S 1 0 1 "" NA18507 nsv511781 2 42199614 42201126 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626430 S 1 0 1 "" 1 esv29346 2 42199654 42200606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18410,esv18345 M 451 0 10 "" NA06985,NA07045,NA11894,NA11931,NA12239,NA12414,NA12489,NA12749,NA12828,NA18858 esv2095885 2 42199666 42200993 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786792 S 1 0 1 "" NA18507 esv4786 2 42199677 42201057 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27227 S 1 0 1 Single Asian sample YH "" YH esv9354 2 42199765 42200928 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31795 S 1 0 1 "" SJK nsv2705 2 42253049 42287403 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4414 S 9 1 0 EML4 NA12878 dgv4106n71 2 42263135 42312144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873967,nsv873965 M 6533 0 2 EML4 SP56580,SP56926 nsv873966 2 42263135 42408977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501545 S 6533 1 0 EML4 SP51021 nsv2706 2 42278279 42323240 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7491 S 9 0 1 EML4 NA12156 nsv873968 2 42289765 42356534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593609 S 6533 0 1 EML4 IS39464 nsv441755 2 42300861 42306117 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EML4 nsv521335 2 42316384 42321138 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694434 S 2026 1 0 EML4 esv8006 2 42330945 42330996 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30447 S 1 1 0 EML4 SJK nsv873969 2 42332554 42376260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514399 S 6533 0 1 EML4 SP56004 nsv525133 2 42341549 42353753 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701201 S 2026 1 0 EML4 esv2533393 2 42381625 42382996 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298693 S 1 0 1 EML4 NA18507 nsv873970 2 42420794 42656869 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590380 S 6533 1 0 COX7A2L,KCNG3,MTA3 IS38503 nsv524679 2 42430674 42656869 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700650 S 2026 0 1 COX7A2L,KCNG3,MTA3 esv23097 2 42574265 42574845 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14045 S 451 0 1 KCNG3 NA07045 nsv817795 2 42831736 42849352 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416306 S 112 1 0 HAAO,OXER1 NA18855 nsv519877 2 42831940 42874418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691333,nssv701229,nssv659270,nssv700823 M 2026 0 4 HAAO,OXER1 nsv457152 2 42833573 42867793 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534408 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HAAO,OXER1 HGDP00656 esv2479359 2 42877053 42877892 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167919 S 1 1 0 "" NA18507 esv269348 2 42877549 42877879 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514514,essv2514034,essv2515375,essv2518436,essv2515059,essv2514450,essv2517595,essv2516848,essv2517339,essv2518998,essv2513835,essv2515189,essv2518883,essv2518204,essv2519475 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12043,NA12249,NA12287,NA12812,NA12874,NA12878,NA12892,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv272619 2 42877555 42877873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582220,essv2583214,essv2584118,essv2584583,essv2583401 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1002703 2 42877570 42877570 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568200 S 3 1 0 "" HuRef esv1556252 2 42877580 42877580 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052813 S 2 1 0 "" HuRef nsv517850 2 42891176 42894081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695255 S 2026 0 1 "" esv2751889 2 42947271 42995273 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982845,essv6982846 M 771 0 1 "" BEC_604 dgv4107n71 2 42965676 43038008 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873971,nsv873972 M 6533 0 2 "" MS18400,MS25305 esv1042303 2 42982772 42983103 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626489 S 2 0 1 "" HuRef nsv214516 2 42982785 42983115 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233094 M 24 "" esv28958 2 43001433 43003208 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19241 S 451 1 0 "" NA11993 esv1967292 2 43059100 43059505 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958167 S 1 0 1 "" NA18507 nsv525307 2 43070039 43101123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701414 S 2026 0 1 "" nsv521421 2 43100577 43101123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698031 S 2026 0 1 "" esv24207 2 43102764 43103599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18587 S 451 0 1 "" NA18511 nsv817806 2 43237741 43250680 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417742 S 112 0 1 "" NA19003 nsv213495 2 43264221 43264221 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232073 M 24 "" nsv527482 2 43266618 43274965 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703929 S 2026 0 1 "" nsv829097 2 43304803 43308613 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432659 S 31 1 0 LOC100129726,ZFP36L2 NA18972 esv25646 2 43304929 43308419 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19938 S 451 0 1 LOC100129726,ZFP36L2 NA07045 nsv457163 2 43338060 43407453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534415 S 1557 0 1 THADA NINDS_102 nsv525157 2 43355981 43391513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701230 S 2026 0 1 THADA esv23574 2 43376883 43388044 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13388 S 451 0 1 THADA NA07037 esv8546 2 43417288 43417359 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30987 S 1 1 0 THADA SJK nsv873973 2 43469512 43523687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569745 S 6533 0 1 THADA IS31703 esv272451 2 43476103 43476188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581210 S 7 1 0 Samples from several populations that are part of the HapMap project. THADA NA19240 nsv520247 2 43488426 43523687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697306 S 2026 0 1 THADA esv267495 2 43506698 43509398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505121 S 157 1 0 Samples from several populations that are part of the HapMap project. THADA NA11995 nsv511782 2 43510797 43511264 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626431 S 1 0 1 THADA 1 nsv873974 2 43586327 43796620 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600758 S 6533 0 1 LOC728819,PLEKHH2,THADA IS41924 esv1449377 2 43595916 43595916 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923699 S 2 1 0 THADA HuRef esv34086 2 43600147 43694519 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 THADA dgv4108n71 2 43619614 43659886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873976,nsv873975 M 6533 0 2 THADA SP52094,SP56004 nsv2707 2 43638661 43667382 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10211 S 9 1 0 THADA NA18956 nsv2708 2 43639940 43682615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7492 S 9 0 1 THADA NA12156 dgv148e55 2 43656932 43848995 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751891,esv2751890,esv2751892 M 771 0 3 LOC728819,PLEKHH2,THADA BEC_305,BEC_557,BEC_642 nsv873977 2 43672643 43738359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563336 S 6533 0 1 PLEKHH2,THADA MS25966 esv34046 2 43676093 43694519 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 THADA dgv59n68 2 43700488 43952228 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv833914,nsv833925 M 95 2 0 ABCG5,ABCG8,DYNC2LI1,LOC728819,PLEKHH2 nsv2709 2 43726390 43750392 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5787 S 9 0 1 PLEKHH2 NA19129 nsv498920 2 43741064 43747160 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585781 S 9 0 1 PLEKHH2 nsv507008 2 43776908 43782908 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617559,nssv621994 M 4 2 0 PLEKHH2 CHM,NA10860 nsv873978 2 43797029 43867805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556991 S 6533 0 1 DYNC2LI1,PLEKHH2 MS22322 nsv873979 2 43797029 43900998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499449 S 6533 0 1 ABCG5,DYNC2LI1,PLEKHH2 SP50649 nsv525332 2 43805375 43807168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701445 S 2026 0 1 PLEKHH2 esv2525475 2 43813625 43815161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182688 S 1 0 1 PLEKHH2 NA18507 esv259628 2 43834758 43835074 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393680,essv2394308 M 6 0 0 Samples from several populations that are part of the HapMap project. PLEKHH2 NA19238,NA19240 nsv457174 2 43843045 44226413 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534419 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCG5,ABCG8,DYNC2LI1,LRPPRC,PLEKHH2 HGDP01104 nsv873980 2 43877040 43900998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526313 S 6533 0 1 ABCG5,DYNC2LI1 SP57165 esv271843 2 43896593 43901892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516729 S 157 1 0 Samples from several populations that are part of the HapMap project. ABCG5 NA11881 nsv873981 2 43918594 43932508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571621,nssv1561312 M 6533 0 2 ABCG5,ABCG8 IS32761,MS24932 nsv519633 2 43925247 43932508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683618,nssv687406,nssv657255,nssv682518,nssv698339,nssv663002,nssv671713,nssv658823 M 2026 0 8 ABCG8 dgv216n21 2 43925247 43954353 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520346,nsv521611 M 2026 0 2 ABCG8 esv267396 2 43933548 43933916 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496670,essv2507965,essv2500265,essv2509833,essv2494813,essv2507324,essv2507016,essv2509456,essv2512026 M 157 9 0 Samples from several populations that are part of the HapMap project. ABCG8 NA11894,NA12003,NA12891,NA18508,NA18519,NA18912,NA19102,NA19129,NA19238 esv274645 2 43933549 43933883 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579971 S 7 1 0 Samples from several populations that are part of the HapMap project. ABCG8 NA12892 esv27861 2 43935538 43952549 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17294 S 451 2 2 ABCG8 NA12828,NA18508,NA18909,NA19108 nsv829108 2 43935674 43952134 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431892 S 31 1 0 ABCG8 AK20 nsv470457 2 43944561 43961246 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547205 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCG8 HGDP00916 nsv516120 2 43944562 43952359 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666760,nssv666321 M 2026 0 2 ABCG8 nsv817817 2 44086208 44091378 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416307 S 112 1 0 "" NA18855 nsv521949 2 44086208 44111865 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694718 S 2026 1 0 "" nsv873982 2 44091378 44166201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564748 S 6533 0 1 "" IS30294 esv273021 2 44091457 44091542 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581068 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv526607 2 44135829 44137247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702927 S 2026 0 1 "" esv2587354 2 44161536 44163086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347423 S 1 0 1 "" NA18507 nsv519938 2 44172156 44173237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659562,nssv690893,nssv662166 M 2026 0 3 "" nsv873983 2 44172810 44205040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536422 S 6533 0 1 "" MS12780 nsv507009 2 44179200 44185200 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623333,nssv617560,nssv620715 M 4 3 0 "" CHM,NA15510,NA18994 nsv457185 2 44195480 44226413 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534429 S 1557 0 1 "" 1780854255_A esv29722 2 44248517 44249396 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15938 S 451 0 1 "" NA12239 esv2751893 2 44261489 44401786 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989664,essv6982660,essv6982659 M 771 0 1 PPM1B,PREPL,SLC3A1 BEC_576 nsv833936 2 44269896 44442498 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441894 S 95 0 1 PPM1B,PREPL,SLC3A1 nsv508082 2 44317642 44323642 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618538,nssv622339,nssv624268 M 4 0 3 "" CHM,NA10860,NA18994 nsv511194 2 44318133 44325549 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626488 S 1 0 1 "" 1 nsv9691 2 44319440 44323552 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25949,nssv27139,nssv24881,nssv27161,nssv24296,nssv24892,nssv27999,nssv26378 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA11830,NA12740,NA18552,NA18975,NA18980 nsv511783 2 44320325 44322699 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626433 S 1 0 1 "" 1 esv27474 2 44320425 44322053 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17220 S 451 0 9 "" NA06985,NA11931,NA11993,NA11995,NA12414,NA12489,NA12749,NA12828,NA18907 nsv829119 2 44320464 44321728 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434245 S 31 0 1 "" NA18570 nsv471778 2 44320597 44322391 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646059 M 0.547 95 "" esv2421374 2 44320603 44321576 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055637,essv5005920,essv5081917,essv5113649,essv5151018,essv5006943,essv5015548,essv5119939,essv5133795,essv5137097,essv5045212,essv5101629,essv5083956,essv5051589,essv5126857,essv5026316,essv5104289,essv5120883,essv5006871,essv5127574,essv5100860,essv5135293,essv5110666,essv5156889,essv5027960,essv5113619,essv5105625,essv5064489,essv5124175,essv5114585,essv5107156,essv5047662,essv5046545,essv5047677,essv5137892,essv5111884,essv5143161,essv5008356,essv5095065,essv5155233,essv5018297,essv5015395,essv5108222,essv5103227,essv5120906,essv5010732,essv5073861,essv5154084,essv5135242,essv5078324,essv5149458,essv5076498,essv5071414,essv5073395,essv5101475,essv5085112,essv5003542,essv5126713,essv5024824,essv5147268,essv5144027,essv5126082,essv5151531,essv5122627,essv5160389,essv5019567,essv5144524,essv5123365,essv5014935,essv5009912,essv5145947,essv5137514,essv5104760,essv5143386,essv5129720,essv5153057,essv5150033,essv5062017,essv5018890,essv5067633,essv5082594,essv5125907,essv5107427,essv5090091,essv5040601,essv5134177,essv5116364,essv5057961,essv5142552,essv5119587,essv5160859,essv5090658,essv5101818,essv5009683,essv5151279,essv5010631,essv5076295,essv5024646,essv5142204,essv5086258,essv5063799,essv5057186,essv5022451,essv5066406,essv5072759,essv5073544,essv5038391,essv5071459,essv5002741,essv5122725,essv5115301,essv5024533,essv5100600,essv5037664,essv5058710,essv5154882,essv5017035,essv5145132,essv5054005,essv5160794,essv5030519,essv5111041,essv5127786,essv5049617,essv5075827,essv5062779,essv5146236,essv5025308,essv5016907,essv5136286,essv5019175,essv5102731,essv5010357,essv5122818,essv5088206,essv5070270,essv5083495,essv5138403,essv5040407,essv5114666,essv5022598,essv5007262,essv5090286,essv5068924,essv5011788,essv5056794,essv5100482,essv5127467,essv5045346,essv5129898,essv5152175,essv5028818,essv5031841,essv5153665,essv5034627,essv5118030,essv5057606,essv5126337,essv5096302,essv5068543,essv5017826,essv5057813,essv5035985,essv5037501,essv5133685,essv5098402,essv5109265,essv5091224,essv5018547,essv5108788,essv5017347,essv5125859,essv5088433,essv5118927,essv5006976,essv5118265,essv5147196,essv5067754,essv5005507,essv5054206,essv5158058,essv5111680,essv5013420,essv5032849,essv5092974,essv5122126,essv5106153,essv5083642,essv5142529,essv5058467,essv5034106,essv5018767,essv5107659,essv5134319,essv5084083,essv5025357,essv5101202,essv5109894,essv5108434,essv5151042,essv5136073,essv5080517,essv5021830,essv5063075,essv5075109,essv5148045,essv5126980,essv5026672,essv5020414,essv5072958,essv5128615,essv5100165,essv5085776,essv5116974,essv5074944,essv5074892,essv5081531,essv5009094,essv5112015,essv5159694,essv5026876,essv5088459,essv5149701,essv5156656,essv5152483,essv5027721,essv5143360,essv5105723,essv5131239,essv5146068,essv5075325,essv5136484,essv5108155,essv5145187,essv5046700,essv5073841,essv5031510,essv5024217,essv5154970,essv5091372 M 1184 0 240 "" NA06984,NA06985,NA06994,NA07022,NA07029,NA07347,NA07349,NA10831,NA10837,NA10839,NA10846,NA10847,NA10856,NA10861,NA11830,NA11840,NA11918,NA11919,NA11931,NA11992,NA11993,NA11995,NA12003,NA12005,NA12044,NA12144,NA12145,NA12146,NA12156,NA12264,NA12273,NA12283,NA12287,NA12335,NA12340,NA12348,NA12489,NA12739,NA12740,NA12749,NA12751,NA12752,NA12760,NA12761,NA12762,NA12778,NA12817,NA12818,NA12828,NA12829,NA12830,NA12842,NA17962,NA17966,NA17975,NA17977,NA17979,NA17983,NA17986,NA17989,NA17990,NA17997,NA17998,NA18105,NA18106,NA18128,NA18132,NA18136,NA18140,NA18144,NA18149,NA18150,NA18152,NA18154,NA18156,NA18160,NA18161,NA18524,NA18526,NA18536,NA18546,NA18550,NA18552,NA18561,NA18562,NA18570,NA18576,NA18592,NA18595,NA18597,NA18615,NA18619,NA18622,NA18623,NA18628,NA18630,NA18631,NA18637,NA18639,NA18670,NA18674,NA18740,NA18745,NA18945,NA18947,NA18951,NA18955,NA18957,NA18962,NA18969,NA18974,NA18975,NA18976,NA18977,NA18978,NA18980,NA18993,NA18994,NA18999,NA19002,NA19036,NA19057,NA19059,NA19062,NA19066,NA19067,NA19068,NA19075,NA19080,NA19083,NA19085,NA19086,NA19088,NA19176,NA19179,NA19180,NA19181,NA19183,NA19207,NA19208,NA19313,NA19315,NA19347,NA19398,NA19403,NA19404,NA19431,NA19439,NA19455,NA19466,NA19625,NA19669,NA19682,NA19700,NA19702,NA19703,NA19789,NA19819,NA19828,NA19835,NA19836,NA19901,NA19902,NA20332,NA20333,NA20343,NA20357,NA20358,NA20505,NA20512,NA20518,NA20520,NA20521,NA20525,NA20527,NA20535,NA20539,NA20541,NA20544,NA20752,NA20760,NA20766,NA20770,NA20771,NA20778,NA20785,NA20787,NA20795,NA20799,NA20801,NA20806,NA20807,NA20808,NA20813,NA20845,NA20846,NA20849,NA20851,NA20852,NA20853,NA20858,NA20862,NA20866,NA20871,NA20873,NA20875,NA20876,NA20881,NA20889,NA20894,NA20897,NA20898,NA20904,NA20908,NA20911,NA21089,NA21090,NA21091,NA21094,NA21100,NA21103,NA21104,NA21105,NA21106,NA21108,NA21112,NA21117,NA21118,NA21125,NA21137,NA21141,NA21355,NA21440,NA21521,NA21599,NA21601,NA21685,NA21689,NA21738,NA21784 dgv4109n71 2 44323253 44399080 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873984,nsv873985 M 6533 0 2 PREPL,SLC3A1 IS30605,IS37063 nsv457196 2 44357633 44420376 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534438 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PREPL,SLC3A1 HGDP01306 nsv521399 2 44360717 44398418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698010 S 2026 0 1 PREPL,SLC3A1 nsv873986 2 44379514 44566433 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527964 S 6533 1 0 CAMKMT,PREPL,SLC3A1 SP81090 esv2538552 2 44398775 44399804 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222304 S 1 0 0 PREPL,SLC3A1 NA18507 nsv833947 2 44421782 44595899 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441897,nssv1441898,nssv1441895 M 95 3 0 CAMKMT,PREPL esv2253758 2 44489622 44490017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806357 S 1 0 1 CAMKMT NA18507 nsv214031 2 44489744 44489831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232609 M 24 CAMKMT dgv4110n71 2 44550660 44610721 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873987,nsv873988 M 6533 0 2 CAMKMT MS19414,SP55851 nsv522689 2 44556482 44574256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706099 S 2026 0 1 CAMKMT nsv873989 2 44581276 44636611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536937 S 6533 0 1 CAMKMT,MIR548AD MS13028 esv2480971 2 44636504 44637991 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208321 S 1 0 1 CAMKMT NA18507 nsv511784 2 44636598 44638771 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626434 S 1 0 1 CAMKMT 1 nsv214988 2 44637092 44637412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233566 M 24 CAMKMT esv1306593 2 44637105 44637426 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253139 S 2 0 1 CAMKMT HuRef esv1206912 2 44669590 44669676 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4250558 S 2 0 1 CAMKMT HuRef esv22809 2 44670637 44684041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19755,esv17512 M 451 0 3 CAMKMT NA12776,NA18508,NA18861 esv270639 2 44679322 44679650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558137,essv2540840,essv2571619,essv2546484,essv2521320,essv2525977,essv2542283,essv2536683,essv2522749,essv2544217,essv2571060,essv2545559,essv2523426,essv2531863,essv2577509,essv2570649,essv2521740,essv2550559,essv2525348,essv2535491,essv2544361,essv2552075,essv2520502,essv2547257,essv2529214,essv2558303,essv2564360,essv2577957,essv2553717,essv2519933,essv2564126,essv2555178,essv2537505,essv2528466,essv2547059,essv2540032,essv2552689,essv2532062,essv2562717,essv2558713,essv2537145,essv2539203,essv2561718,essv2544930,essv2563096,essv2523592,essv2552944,essv2538207,essv2524487,essv2534736,essv2561197,essv2539778,essv2549221,essv2559840,essv2531241,essv2532675,essv2563847,essv2535852,essv2572482,essv2559331,essv2566967,essv2568917,essv2543701,essv2556288,essv2527995,essv2562488,essv2534019,essv2573154,essv2533575,essv2566454,essv2529867,essv2573804,essv2527650,essv2573418,essv2543198,essv2576964,essv2529680,essv2575378,essv2574988,essv2538744,essv2526580,essv2524037,essv2574883,essv2530428,essv2560178,essv2571395,essv2545957,essv2574528,essv2551296,essv2536278,essv2538054,essv2548742,essv2533272,essv2547650,essv2563229 M 157 95 0 Samples from several populations that are part of the HapMap project. CAMKMT NA06986,NA07000,NA07037,NA07051,NA07347,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12815,NA12828,NA12872,NA12878,NA12891,NA12892,NA18489,NA18502,NA18505,NA18507,NA18516,NA18517,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18555,NA18561,NA18562,NA18563,NA18564,NA18570,NA18573,NA18576,NA18603,NA18608,NA18609,NA18638,NA18853,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18944,NA18948,NA18949,NA18951,NA18952,NA18964,NA18965,NA18970,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19190,NA19238,NA19239,NA19240,NA19257 esv273785 2 44679322 44679650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582002,essv2582475,essv2583069,essv2584382,essv2584520,essv2583758 M 7 6 0 Samples from several populations that are part of the HapMap project. CAMKMT NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv441756 2 44680343 44682239 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CAMKMT nsv514066 2 44680416 44682232 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628314 S 1414 0 1 CAMKMT esv271057 2 44702736 44702821 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518051 S 157 1 0 Samples from several populations that are part of the HapMap project. CAMKMT NA12872 nsv507010 2 44709088 44715088 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617561 S 4 1 0 CAMKMT CHM esv2592933 2 44783981 44785430 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283695 S 1 0 1 CAMKMT NA18507 esv267871 2 44876701 44876786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514624 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv873990 2 45003685 45038728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509775 S 6533 0 1 SIX3 SP54956 nsv457207 2 45011742 45047793 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534445 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SIX3 HGDP00774 nsv526386 2 45014802 45018893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702684 S 2026 0 1 "" nsv526534 2 45014802 45065743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702847 S 2026 0 1 SIX3 nsv2711 2 45053813 45098548 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7493 S 9 0 1 SIX2 NA12156 nsv523494 2 45146584 45243487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699263 S 2026 0 1 "" nsv457219 2 45151924 45188917 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534454 S 1557 1 0 "" 1780862547_A nsv873991 2 45156201 45188917 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566236 S 6533 1 0 "" IS30616 esv272543 2 45162713 45164007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580436,essv2579151,essv2579542 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 dgv455n27 2 45164823 45185832 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457241,nsv457230 M 1557 2 0 "" HGDP00133,HGDP00183 esv259494 2 45176356 45176697 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393873,essv2393705,essv2393992,essv2394304 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv260053 2 45176363 45176712 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400013,essv2394745,essv2398588,essv2396720,essv2400335,essv2400893,essv2396030,essv2395791,essv2396232,essv2399978,essv2399381,essv2398645,essv2400767,essv2398265,essv2399188,essv2401045,essv2395566,essv2397628,essv2397802,essv2399222,essv2395034,essv2395723,essv2396326,essv2397401,essv2399558,essv2395049,essv2399847,essv2398807,essv2399436,essv2400082,essv2394611,essv2400679,essv2395322,essv2396208,essv2395856,essv2397467,essv2398148,essv2399631,essv2398346,essv2399798,essv2399505,essv2398036,essv2398112,essv2398719,essv2399683,essv2397234,essv2395936,essv2397031,essv2400530,essv2394517 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA10847,NA11831,NA11881,NA11993,NA12003,NA12004,NA12006,NA12156,NA12287,NA12489,NA12717,NA12763,NA12776,NA12891,NA18501,NA18502,NA18505,NA18508,NA18519,NA18532,NA18558,NA18566,NA18570,NA18571,NA18573,NA18582,NA18858,NA18861,NA18870,NA18912,NA18916,NA18944,NA18945,NA18947,NA18949,NA18964,NA19093,NA19129,NA19137,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 nsv457252 2 45185832 45201781 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534481 S 1557 1 0 "" 1780862067_A nsv520318 2 45220135 45222194 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662860,nssv692450,nssv672243,nssv679233,nssv690134 M 2026 5 0 "" esv2751894 2 45222194 45853323 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985831,essv6985832,essv6985833,essv6987276,essv6987275 M 771 1 0 PRKCE,SRBD1,UNQ6975 SPC_63 nsv2712 2 45226443 45258692 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2261 S 9 1 0 UNQ6975 NA18555 nsv526205 2 45257987 45258553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702468 S 2026 0 1 UNQ6975 esv29116 2 45266896 45270365 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16344 S 451 0 1 UNQ6975 NA19108 esv2424728 2 45324174 45325491 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253732 S 1 0 1 UNQ6975 NA18507 dgv456n27 2 45333646 45394890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457274,nsv457263 M 1557 0 2 UNQ6975 1798860279_A,HGDP01373 nsv873992 2 45357147 45378944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503261 S 6533 1 0 "" SP52019 esv29400 2 45390037 45392251 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12797 S 451 0 1 "" NA18909 nsv214834 2 45394448 45399707 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233412 M 24 "" nsv833958 2 45406741 45565989 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441899 S 95 1 0 SRBD1 esv2618979 2 45494949 45496600 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242566 S 1 0 1 SRBD1 NA18507 esv269905 2 45524320 45526809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516517 S 157 1 0 Samples from several populations that are part of the HapMap project. SRBD1 NA12814 dgv217n21 2 45543819 45676527 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526369,nsv524130 M 2026 0 2 SRBD1 nsv457285 2 45553574 45605718 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534511 S 1557 0 1 SRBD1 NINDS_145 esv2590571 2 45553760 45555216 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229344 S 1 0 1 SRBD1 NA18507 dgv4111n71 2 45561318 45676527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv873994,nsv873993 M 6533 0 2 SRBD1 MS10737,SP57367 nsv873995 2 45580767 45649739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539238 S 6533 0 1 SRBD1 MS14268 nsv519046 2 45599235 45605718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696517 S 2026 0 1 SRBD1 nsv521080 2 45609173 45636831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691046,nssv681434 M 2026 0 2 SRBD1 nsv520955 2 45609173 45685041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697707 S 2026 0 1 SRBD1 esv22205 2 45611617 45613496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17570 S 451 0 1 SRBD1 NA11993 nsv457296 2 45628052 45690285 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534518 S 1557 0 1 SRBD1 NINDS_133 nsv528112 2 45798033 45799602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704654 S 2026 0 1 PRKCE esv269618 2 45855551 45856584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508297,essv2507844,essv2507658,essv2511673,essv2504893,essv2511069,essv2497847,essv2505484,essv2500555,essv2500749 M 157 10 0 Samples from several populations that are part of the HapMap project. PRKCE NA18561,NA18564,NA18576,NA18940,NA18942,NA18944,NA18945,NA18952,NA18956,NA18973 nsv2713 2 45857124 45886547 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7494 S 9 0 1 PRKCE NA12156 nsv457318 2 45875110 45906001 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534530 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCE HGDP00756 nsv829130 2 45908219 45909160 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440195 S 31 1 0 PRKCE NA18564 esv273768 2 46049670 46050011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582487,essv2584081,essv2583692 M 7 3 0 Samples from several populations that are part of the HapMap project. PRKCE NA12891,NA19238,NA19240 esv267472 2 46049671 46050009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558017,essv2521065,essv2536418,essv2568254,essv2545685,essv2531739,essv2548280,essv2521466,essv2576568,essv2550563,essv2535287,essv2544432,essv2552290,essv2547180,essv2553879,essv2520218,essv2554985,essv2528283,essv2520923,essv2557372,essv2556838,essv2532307,essv2569466,essv2537118,essv2569799,essv2527298,essv2523557,essv2531089,essv2543483,essv2527735,essv2562230,essv2534114,essv2533610,essv2527414,essv2531369,essv2526860,essv2575543,essv2575046,essv2568530,essv2571358,essv2574417,essv2551399,essv2536171,essv2538061,essv2548818,essv2533202,essv2554769,essv2525085 M 157 48 0 Samples from several populations that are part of the HapMap project. PRKCE NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11894,NA11920,NA11995,NA12003,NA12006,NA12045,NA12144,NA12154,NA12155,NA12249,NA12414,NA12489,NA12717,NA12763,NA12815,NA12872,NA12891,NA18498,NA18499,NA18501,NA18505,NA18508,NA18517,NA18520,NA18522,NA18537,NA18573,NA18870,NA18907,NA18909,NA18916,NA18944,NA18952,NA18961,NA19005,NA19099,NA19102,NA19147,NA19238,NA19240,NA19257 nsv518264 2 46106065 46107466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695695 S 2026 0 1 PRKCE esv3096 2 46166167 46166529 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25537 S 1 0 1 Single Asian sample YH PRKCE YH nsv213629 2 46166202 46166452 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232207 M 24 PRKCE esv9518 2 46166207 46166457 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31959 S 1 0 1 PRKCE SJK nsv517015 2 46174384 46176109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654540,nssv653619,nssv693747,nssv652512,nssv693854,nssv661106,nssv677618,nssv671373,nssv693209,nssv687134,nssv657590 M 2026 0 11 PRKCE nsv521205 2 46217311 46219424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688202,nssv685047 M 2026 0 2 PRKCE nsv829142 2 46268238 46268709 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427332 S 31 1 0 PRKCE AK8 nsv515653 2 46271150 46273751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681195,nssv664255 M 2026 0 2 "" esv2644719 2 46286675 46288202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237509 S 1 0 1 "" NA18507 esv2403255 2 46287098 46287652 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588142 S 1 0 1 "" NA18507 esv3478 2 46287260 46287551 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25919 S 1 0 1 Single Asian sample YH "" YH esv1607565 2 46287301 46287463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127355 S 2 0 1 "" HuRef dgv1181e1 2 46386316 46727655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20783,esv815 M 271 0 0 ATP6V1E2,CRIPT,EPAS1,LOC388946,PIGF,RHOQ NA12146 nsv2714 2 46445218 46476816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6835 S 9 1 0 EPAS1 NA12156 dgv149e55 2 46459163 46672496 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34937,esv34650 M 771 0 2 ATP6V1E2,EPAS1,LOC388946,PIGF,RHOQ NA10847,NA12146 essv19828 2 46467739 46609935 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATP6V1E2,LOC388946 NA10847 nsv437435 2 46490471 46617091 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467316 S 60 0 1 Samples from several populations that are part of the HapMap project. ATP6V1E2,LOC388946 NA10847 nsv457330 2 46490585 46514256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534539 S 1557 0 1 "" NINDS_163 essv21584 2 46495131 46593187 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATP6V1E2,LOC388946 NA12146 nsv9702 2 46521610 46599244 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27839,nssv25161 M 31 0 2 Samples from several populations that are part of the HapMap project. ATP6V1E2,LOC388946 NA10847,NA18942 nsv817828 2 46523650 46592661 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418346,nssv1418345 M 112 0 2 ATP6V1E2,LOC388946 NA10847,NA12146 nsv873996 2 46524445 46918731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578184 S 6533 1 0 ATP6V1E2,CRIPT,LOC100134259,LOC388946,LOC388948,PIGF,RHOQ,SOCS5 IS34701 nsv519216 2 46537187 46576723 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696705 S 2026 1 0 LOC388946 nsv2715 2 46545877 46580592 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3017 S 9 1 0 LOC388946 NA18555 nsv471779 2 46547749 46551197 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646060 M 0.021 95 "" dgv625n67 2 46547799 46551042 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829175,nsv829153,nsv829164 M 31 0 3 "" NA18547,NA18566,NA18942 nsv441757 2 46549602 46551188 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33715 2 46563268 46566296 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97650 S 51 1 0 LOC388946 22278 nsv457341 2 46566263 46577520 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534547 S 1557 1 0 "" NINDS_106 nsv438326 2 46576723 46579714 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470707,nssv470696 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA12146 esv23599 2 46623173 46623699 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15018 S 451 0 1 RHOQ NA07045 nsv9713 2 46628860 46644070 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28022 S 31 1 0 Samples from several populations that are part of the HapMap project. RHOQ NA19132 nsv521013 2 46665842 46671148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681255,nssv693784,nssv679828 M 2026 0 3 PIGF nsv873997 2 46675144 46838131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558461 S 6533 0 1 CRIPT,PIGF,SOCS5 MS23290 esv2548666 2 46763018 46764611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222990 S 1 0 1 "" NA18507 esv2049503 2 46763444 46764168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908306 S 1 0 1 "" NA18507 esv3545 2 46763568 46764077 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25986 S 1 0 1 Single Asian sample YH "" YH esv6555 2 46763662 46763965 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28996 S 1 0 1 "" SJK esv2578626 2 46782064 46783002 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317119 S 1 1 0 SOCS5 NA18507 esv269673 2 46782437 46782740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575960,essv2540881,essv2546559,essv2521452,essv2526024,essv2536650,essv2544218,essv2568418,essv2545702,essv2523176,essv2577534,essv2570543,essv2548603,essv2576738,essv2525309,essv2550367,essv2554244,essv2520523,essv2547568,essv2558510,essv2564357,essv2578021,essv2553780,essv2559502,essv2565530,essv2520125,essv2564201,essv2530640,essv2561985,essv2537458,essv2547116,essv2520737,essv2557379,essv2552444,essv2551847,essv2532298,essv2562694,essv2569413,essv2578672,essv2550004,essv2558710,essv2536864,essv2569852,essv2561309,essv2544725,essv2562916,essv2523932,essv2542852,essv2540599,essv2524321,essv2565070,essv2549208,essv2519611,essv2522006,essv2566236,essv2532682,essv2541594,essv2569966,essv2563826,essv2553433,essv2535560,essv2572547,essv2559230,essv2566914,essv2541927,essv2551141,essv2568984,essv2543546,essv2556247,essv2562326,essv2533990,essv2578373,essv2573226,essv2533720,essv2566464,essv2527542,essv2557717,essv2522597,essv2531573,essv2573743,essv2543217,essv2572029,essv2525811,essv2526761,essv2575540,essv2575124,essv2538515,essv2524209,essv2574551,essv2530395,essv2572655,essv2568626,essv2545193,essv2560310,essv2549639,essv2545926,essv2574494,essv2551469,essv2536263,essv2537877,essv2548778,essv2554625,essv2547821,essv2563292 M 157 104 0 Samples from several populations that are part of the HapMap project. SOCS5 NA06986,NA07000,NA07037,NA07346,NA07347,NA10847,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11992,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12154,NA12156,NA12234,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12873,NA12874,NA12878,NA12892,NA18498,NA18499,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18520,NA18523,NA18526,NA18532,NA18537,NA18550,NA18552,NA18555,NA18558,NA18564,NA18566,NA18571,NA18572,NA18576,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18909,NA18916,NA18940,NA18942,NA18944,NA18948,NA18952,NA18953,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19099,NA19102,NA19108,NA19129,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv273266 2 46782438 46782741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582006,essv2582839,essv2584521,essv2583613 M 7 4 0 Samples from several populations that are part of the HapMap project. SOCS5 NA12878,NA12892,NA19239,NA19240 esv2639866 2 46798761 46800181 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164118 S 1 0 1 SOCS5 NA18507 esv25338 2 46821324 46832464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14887 S 451 0 1 SOCS5 NA18909 nsv213378 2 46855338 46859625 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231956 M 24 "" nsv457352 2 46858292 47179477 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534553 S 1557 0 1 C2orf61,LOC100134259,LOC388948,MCFD2,TTC7A 1780854536_A nsv213366 2 46867372 46868838 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231944 M 24 "" esv2259348 2 46879699 46880102 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694442 S 1 0 1 "" NA18507 nsv213855 2 46879832 46879886 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232433 M 24 "" nsv817840 2 46897722 46924331 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416308 S 112 1 0 LOC100134259,LOC388948 NA18855 nsv524374 2 46919629 46919786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700286 S 2026 0 1 LOC100134259 nsv524970 2 47016243 47155599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700995 S 2026 0 1 MCFD2,TTC7A esv1009804 2 47046634 47050289 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564083 S 3 0 1 TTC7A HuRef nsv525197 2 47064251 47151477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701278 S 2026 0 1 TTC7A nsv517929 2 47070598 47096816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695342 S 2026 0 1 TTC7A nsv518312 2 47078431 47115641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695743 S 2026 0 1 TTC7A nsv519298 2 47083457 47084235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675671,nssv656824,nssv655239 M 2026 0 3 TTC7A nsv521400 2 47083457 47084719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698011 S 2026 0 1 TTC7A nsv519217 2 47083457 47085999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696706 S 2026 1 0 TTC7A nsv521030 2 47102743 47108563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692190,nssv683540,nssv680111,nssv696970,nssv681285 M 2026 0 5 TTC7A nsv525855 2 47102743 47112971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702050 S 2026 0 1 TTC7A nsv457363 2 47102743 47116736 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534563 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TTC7A HGDP00747 nsv528091 2 47102743 47127236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704627 S 2026 0 1 TTC7A nsv873998 2 47127236 47167128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546488 S 6533 0 1 TTC7A MS17208 nsv2716 2 47165670 47190104 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5788 S 9 0 1 C2orf61 NA19129 esv2471188 2 47172327 47173273 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204132 S 1 1 0 C2orf61 NA18507 esv270146 2 47172762 47172847 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514662,essv2517534,essv2517042,essv2518647,essv2516608,essv2515622,essv2518049,essv2517710,essv2513686 M 157 9 0 Samples from several populations that are part of the HapMap project. C2orf61 NA07347,NA11840,NA11918,NA11931,NA12287,NA12814,NA12815,NA12872,NA12878 esv272208 2 47172762 47172847 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581311 S 7 1 0 Samples from several populations that are part of the HapMap project. C2orf61 NA12878 nsv498921 2 47180466 47188025 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585782 S 9 0 1 C2orf61 esv23099 2 47282820 47326174 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10649 S 451 1 0 "" NA19225 nsv526478 2 47330320 47331088 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702785 S 2026 0 1 "" nsv524003 2 47396749 47443538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699863 S 2026 0 1 "" nsv520660 2 47443538 47454610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697542 S 2026 0 1 EPCAM nsv527823 2 47498753 47563208 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704318 S 2026 1 0 MSH2 esv2291090 2 47507416 47507855 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691703 S 1 0 1 MSH2 NA18507 esv3890 2 47507521 47507743 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26331 S 1 0 1 Single Asian sample YH MSH2 YH esv995811 2 47507562 47507640 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569986 S 3 0 1 MSH2 HuRef esv1070809 2 47507640 47507719 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097515 S 2 0 1 MSH2 HuRef nsv2717 2 47621553 47655954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3018 S 9 1 0 KCNK12 NA18555 esv29460 2 47650507 47651607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14517 S 451 0 1 KCNK12 NA07045 nsv457396 2 47719637 47810348 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534592 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00210 nsv873999 2 47769578 47872989 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542201 S 6533 1 0 MSH6 MS15707 nsv522213 2 47801605 47810348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694989 S 2026 0 1 "" nsv215484 2 47837180 47837529 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234062 M 24 "" esv2611764 2 47849162 47849746 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309076 S 1 1 0 "" NA18507 esv1216334 2 47849566 47849566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725585 S 2 1 0 "" HuRef nsv519831 2 47926359 48419535 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697074 S 2026 1 0 FBXO11,FOXN2 nsv523013 2 47926621 47999626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698688 S 2026 0 1 FBXO11 nsv874000 2 47932342 48145086 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585498 S 6533 1 0 FBXO11 IS37480 nsv519761 2 47999626 48101605 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694427,nssv685873,nssv658329 M 2026 2 1 "" esv1979585 2 48060348 48060774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548993 S 1 0 1 "" NA18507 nsv833969 2 48074431 48181832 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441902,nssv1441900,nssv1441901 M 95 1 2 "" nsv2718 2 48075616 48108967 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1491 S 9 1 0 "" NA19240 esv272010 2 48130009 48130097 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545449,essv2523103,essv2531890,essv2577513,essv2570533,essv2535412,essv2544358,essv2552037,essv2520466,essv2577702,essv2548718,essv2547718 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA12003,NA12004,NA12006,NA12043,NA12044,NA12249,NA12414,NA12489,NA12716,NA12761 esv270795 2 48130935 48134214 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518973 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv457407 2 48268239 48346686 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534602 S 1557 0 1 "" NINDS_46 nsv874001 2 48387867 48477511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508645 S 6533 0 1 FOXN2 SP54579 nsv874002 2 48401255 48463871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503810 S 6533 0 1 FOXN2 SP52114 nsv874003 2 48424013 48473373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504729 S 6533 0 1 FOXN2 SP52717 nsv518718 2 48477511 48503812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696169 S 2026 0 1 "" nsv524919 2 48503242 48512283 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700931 S 2026 1 0 "" esv2548827 2 48529025 48530320 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359144 S 1 0 1 KLRAQ1 NA18507 esv1932167 2 48529031 48529456 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822351 S 1 0 1 KLRAQ1 NA18507 nsv833981 2 48558948 48731683 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441903 S 95 0 1 GTF2A1L,KLRAQ1,STON1,STON1-GTF2A1L nsv829186 2 48597923 48600317 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434927 S 31 0 1 "" NA18942 esv2631205 2 48634746 48639315 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208019 S 1 0 1 STON1,STON1-GTF2A1L NA18507 esv990475 2 48635033 48638658 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564823 S 3 0 1 STON1,STON1-GTF2A1L HuRef esv2354047 2 48635154 48638577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923542 S 1 0 1 STON1,STON1-GTF2A1L NA18507 esv3660 2 48635327 48638427 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26101 S 1 0 1 Single Asian sample YH STON1,STON1-GTF2A1L YH esv8396 2 48635338 48638376 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30837 S 1 0 1 STON1,STON1-GTF2A1L SJK esv1633121 2 48635356 48638388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083506 S 2 0 1 STON1,STON1-GTF2A1L HuRef esv1496764 2 48645124 48645197 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637721 S 2 0 1 STON1,STON1-GTF2A1L HuRef esv1298688 2 48645226 48645283 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991302 S 2 0 1 STON1,STON1-GTF2A1L HuRef nsv829197 2 48666000 48677613 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428094 S 31 1 0 STON1,STON1-GTF2A1L AK10 nsv833992 2 48667727 48851541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441904 S 95 1 0 GTF2A1L,LHCGR,STON1,STON1-GTF2A1L esv275164 2 48685405 48686601 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585927,essv2585957 M 1250 1 1 STON1-GTF2A1L nsv874004 2 48692459 48758054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580164 S 6533 0 1 GTF2A1L,STON1-GTF2A1L IS35236 nsv2719 2 48700959 48720617 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6836 S 9 0 1 GTF2A1L,STON1-GTF2A1L NA12156 esv991713 2 48704358 48714056 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565687 S 3 0 1 GTF2A1L,STON1-GTF2A1L HuRef esv997251 2 48704713 48708305 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586408 S 3 0 1 GTF2A1L,STON1-GTF2A1L HuRef esv24510 2 48704713 48711350 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19846 S 451 0 8 GTF2A1L,STON1-GTF2A1L NA07037,NA11993,NA12006,NA12156,NA12239,NA12414,NA12749,NA12776 nsv817851 2 48794932 48826631 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416309 S 112 1 0 LHCGR,STON1-GTF2A1L NA18855 nsv518963 2 48891658 48905797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696430 S 2026 0 1 "" nsv519859 2 48899488 48905797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704547,nssv671266,nssv659126 M 2026 0 3 "" esv1655012 2 48914941 48914941 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952259 S 2 1 0 "" HuRef dgv4112n71 2 48939903 48995703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874006,nsv874005 M 6533 0 2 "" IS40538,IS40956 esv2431681 2 48940917 48941971 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197533 S 1 1 0 "" NA18507 nsv874007 2 48956030 49174668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527235 S 6533 0 1 FSHR SP58257 nsv874008 2 48980306 49043425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572997 S 6533 0 1 FSHR IS33218 nsv834003 2 48985177 49165777 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441905 S 95 0 1 FSHR nsv874009 2 49015427 49073584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550079 S 6533 0 1 FSHR MS18278 esv2751895 2 49031853 49124921 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989933,essv6984230,essv6984229,essv6984228 M 771 0 1 FSHR BEC_814 nsv523955 2 49040206 49043425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699805 S 2026 0 1 FSHR nsv518852 2 49040206 49045094 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696306 S 2026 0 1 FSHR nsv817862 2 49046208 49076076 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416310 S 112 1 0 FSHR NA18855 esv259989 2 49053940 49054690 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397830,essv2396510,essv2399281,essv2399515 M 144 0 0 Samples from several populations that are part of the HapMap project. FSHR NA18505,NA18517,NA19102,NA19137 nsv874010 2 49083917 49246886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552242 S 6533 0 1 FSHR MS19303 nsv829208 2 49103554 49114411 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436962 S 31 1 0 FSHR NA18592 nsv2720 2 49126682 49171394 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7495 S 9 0 1 FSHR NA12156 dgv218n21 2 49128954 49133436 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521961,nsv526986 M 2026 0 2 FSHR nsv527059 2 49159437 49174668 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703437 S 2026 1 0 FSHR nsv214070 2 49208469 49208539 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232648 M 24 FSHR dgv4113n71 2 49212159 49342837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874012,nsv874011 M 6533 0 2 FSHR IS38522,MS17235 nsv817873 2 49224633 49279972 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416311 S 112 1 0 FSHR NA18855 esv28189 2 49230704 49231542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18285 S 451 0 1 FSHR NA06985 nsv522402 2 49246886 49282613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695184 S 2026 0 1 "" nsv517823 2 49273914 49277418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695228 S 2026 0 1 "" nsv529037 2 49273914 49282613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705749 S 2026 0 1 "" esv9615 2 49334957 49335056 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32056 S 1 1 0 "" SJK nsv508141 2 49344272 49399135 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622809 S 4 0 1 "" NA18994 dgv4114n71 2 49351510 49544340 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874013,nsv874014 M 6533 0 2 "" MS16847,SP56874 nsv213365 2 49352447 49362068 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231943 M 24 "" nsv457418 2 49368235 49416040 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534612 S 1557 0 1 "" NINDS_72 nsv2722 2 49371724 49416895 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7496 S 9 0 1 "" NA12156 dgv626n67 2 49386669 49392850 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829219,nsv829230,nsv829241,nsv829253 M 31 0 6 "" AK16,NA18526,NA18564,NA18570,NA18973,NA18997 dgv457n27 2 49387002 49391299 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457485,nsv457441,nsv457429,nsv457496,nsv457474,nsv457463,nsv457452 M 1557 0 7 "" 1780854489_A,1780862546_A,HGDP00949,HGDP01103,HGDP01204,HGDP01232,HGDP01250 nsv517366 2 49387002 49391299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667685,nssv662107,nssv666592,nssv683561,nssv655556,nssv669067,nssv656638,nssv690565,nssv657743,nssv667796,nssv674236,nssv679953,nssv693855,nssv672001,nssv687156,nssv673481,nssv658949,nssv699522,nssv651824,nssv673849,nssv652101,nssv694033,nssv654806 M 2026 0 23 "" nsv817884 2 49387002 49391299 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416133,nssv1417266 M 112 0 2 "" NA12891,NA18593 esv2421747 2 49387002 49394694 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5116027,essv5077104,essv5143101,essv5129306,essv5109967,essv5025121,essv5134281,essv5086229,essv5079138,essv5058370,essv5072434,essv5009477,essv5154844,essv5050537,essv5105213,essv5038948,essv5064008,essv5138747,essv5006890,essv5090346,essv5037558,essv5057177,essv5129210,essv5057276,essv5033616,essv5124497,essv5149508,essv5076822,essv5146298,essv5155303,essv5068150,essv5063461,essv5104808,essv5017400,essv5143414,essv5149535,essv5133406,essv5121289,essv5073574,essv5036834,essv5017410,essv5114137,essv5014396,essv5026368,essv5024686,essv5117702,essv5072608,essv5143338,essv5118106,essv5036181,essv5038375,essv5057348,essv5062315,essv5126604,essv5098227,essv5029149,essv5111145,essv5159361,essv5130119,essv5008141,essv5112083,essv5120216,essv5031608,essv5063871,essv5150078,essv5028336,essv5032821,essv5085271,essv5060365,essv5030363,essv5032412,essv5107990,essv5054493,essv5160601,essv5088407,essv5086619,essv5090948,essv5146912,essv5012671,essv5108393,essv5038900,essv5084821,essv5081106,essv5007818,essv5136801,essv5092567,essv5012375,essv5102285,essv5055952,essv5097790,essv5045842,essv5024828,essv5086026,essv5151258,essv5123133,essv5017705,essv5082251,essv5023165,essv5142999,essv5013209,essv5142539,essv5066536,essv5146527,essv5150119,essv5139628,essv5131822,essv5082399,essv5119920,essv5057532,essv5068954,essv5006355,essv5128665,essv5072658,essv5096272,essv5063552,essv5040763,essv5064750,essv5149365 M 1184 0 118 "" NA07056,NA07346,NA11830,NA11931,NA11994,NA12144,NA12146,NA12283,NA12375,NA12716,NA12752,NA12760,NA12865,NA12891,NA17969,NA17972,NA17974,NA17975,NA17979,NA17981,NA17982,NA17986,NA17989,NA17995,NA18102,NA18107,NA18108,NA18122,NA18128,NA18129,NA18131,NA18134,NA18135,NA18141,NA18144,NA18146,NA18150,NA18160,NA18166,NA18524,NA18526,NA18532,NA18543,NA18544,NA18546,NA18559,NA18564,NA18570,NA18573,NA18579,NA18593,NA18594,NA18605,NA18610,NA18612,NA18613,NA18614,NA18615,NA18623,NA18624,NA18626,NA18627,NA18630,NA18631,NA18636,NA18638,NA18639,NA18640,NA18642,NA18643,NA18647,NA18685,NA18694,NA18745,NA18747,NA18748,NA18749,NA18757,NA18939,NA18940,NA18943,NA18944,NA18962,NA18965,NA18967,NA18971,NA18973,NA18981,NA18994,NA18997,NA19001,NA19010,NA19054,NA19055,NA19057,NA19060,NA19062,NA19063,NA19065,NA19066,NA19070,NA19075,NA19078,NA19080,NA19084,NA19086,NA19663,NA19665,NA19750,NA19759,NA20518,NA20538,NA20539,NA20774,NA20812,NA20813,NA20877,NA21116 nsv519183 2 49387002 49413051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696667 S 2026 0 1 "" esv26890 2 49387224 49392786 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14729 S 451 0 2 "" NA11931,NA12414 nsv442732 2 49389272 49394694 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv458n27 2 49389360 49391299 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457529,nsv457518 M 1557 0 2 "" 1780854479_A,HGDP01221 nsv514067 2 49389808 49392668 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628325 S 1414 0 1 "" esv2203926 2 49414801 49415321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858211 S 1 0 1 "" NA18507 esv3808 2 49414951 49415208 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26249 S 1 0 1 Single Asian sample YH "" YH dgv4115n71 2 49442161 49567633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874015,nsv874016 M 6533 0 2 "" IS33663,SP54477 nsv457540 2 49458396 49492625 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534705 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00600 dgv4116n71 2 49463690 49522477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874019,nsv874017,nsv874018 M 6533 0 9 "" IS30226,IS30824,IS33837,IS33850,IS34005,IS35205,IS36196,IS37294,IS37346 nsv874020 2 49463690 49537979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570264 S 6533 0 1 "" IS31849 esv2301740 2 49466216 49466923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860259 S 1 0 1 "" NA18507 esv2500413 2 49466237 49468104 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210386 S 1 0 1 "" NA18507 esv1001182 2 49466271 49466993 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565247 S 3 0 1 "" HuRef esv3283 2 49466345 49466762 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25724 S 1 0 1 Single Asian sample YH "" YH esv8287 2 49466353 49466713 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30728 S 1 0 1 "" SJK esv1637090 2 49466402 49466725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846069 S 2 0 1 "" HuRef nsv2723 2 49471639 49486057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9346 S 9 1 0 "" NA18517 nsv525181 2 49480285 49484137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701258 S 2026 0 1 "" dgv4117n71 2 49489095 49515582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874021,nsv874022 M 6533 0 4 "" MS13281,SP51350,SP54853,SP80925 esv21887 2 49507190 49515691 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19007 S 451 0 2 "" NA18858,NA19108 nsv874023 2 49515582 49591323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580790 S 6533 0 1 "" IS35475 dgv4118n71 2 49556703 49662066 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874024,nsv874025 M 6533 2 0 "" MS17878,MS22639 esv2455967 2 49586300 49587292 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317377 S 1 1 0 "" NA18507 esv270799 2 49586966 49587304 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565896,essv2575977,essv2540878,essv2571693,essv2546268,essv2521428,essv2525943,essv2542583,essv2536572,essv2522938,essv2544132,essv2570863,essv2556774,essv2568422,essv2531976,essv2577426,essv2548465,essv2521847,essv2576552,essv2550653,essv2535101,essv2554176,essv2544270,essv2552050,essv2547189,essv2529117,essv2558310,essv2564353,essv2578088,essv2553677,essv2559616,essv2520000,essv2564000,essv2554840,essv2530652,essv2561841,essv2537243,essv2528491,essv2539962,essv2520738,essv2557499,essv2556917,essv2551744,essv2562798,essv2578842,essv2558760,essv2539117,essv2569763,essv2561334,essv2544573,essv2523807,essv2552913,essv2541402,essv2538283,essv2542615,essv2540316,essv2524406,essv2564799,essv2534599,essv2561235,essv2539800,essv2549428,essv2519662,essv2559963,essv2522188,essv2565937,essv2531100,essv2532534,essv2567966,essv2528791,essv2567625,essv2541824,essv2570312,essv2563561,essv2535604,essv2559381,essv2566901,essv2542047,essv2551071,essv2568912,essv2543502,essv2556406,essv2528089,essv2562250,essv2539235,essv2533984,essv2578265,essv2555613,essv2567263,essv2566418,essv2529889,essv2527436,essv2557692,essv2555966,essv2534353,essv2522464,essv2531422,essv2573638,essv2543274,essv2573326,essv2571925,essv2525772,essv2526944,essv2529698,essv2575159,essv2526716,essv2560738,essv2524094,essv2574649,essv2568593,essv2560272,essv2549797,essv2571449,essv2545845,essv2574329,essv2551491,essv2536163,essv2537984,essv2549016,essv2533172,essv2554696,essv2563334,essv2557796 M 157 123 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18489,NA18498,NA18499,NA18501,NA18504,NA18507,NA18510,NA18516,NA18519,NA18520,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18973,NA18980,NA19005,NA19093,NA19102,NA19114,NA19116,NA19129,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273220 2 49586966 49587306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582074,essv2582323,essv2584226,essv2584723,essv2583388 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1350770 2 49586998 49586998 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282591 S 2 1 0 "" HuRef nsv457563 2 49612179 49715638 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534725 S 1557 0 1 "" 1780854467_A esv273232 2 49633888 49633973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581498 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv874026 2 49683134 49742180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554388 S 6533 0 1 "" MS20784 nsv874027 2 49715638 49809930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581565,nssv1591121,nssv1566023,nssv1583553,nssv1595799,nssv1594728,nssv1591495,nssv1572749,nssv1576154,nssv1575800,nssv1591210,nssv1573373,nssv1586852,nssv1600570,nssv1593699,nssv1594890,nssv1583654,nssv1595282,nssv1600331 M 6533 0 19 "" IS30562,IS33175,IS33340,IS33811,IS33890,IS35633,IS36532,IS36563,IS37986,IS38640,IS38652,IS38849,IS39494,IS40004,IS40057,IS40222,IS40333,IS41870,IS41898 esv1058715 2 49716063 49716063 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749249 S 2 1 0 "" HuRef nsv522280 2 49724834 49725943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695063 S 2026 0 1 "" nsv470458 2 49724834 49800047 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547206 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01303 nsv527407 2 49725943 49742180 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703844 S 2026 1 0 "" nsv874028 2 49767459 49815594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499888 S 6533 0 1 "" SP50097 nsv874029 2 49800047 49902481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580463 S 6533 1 0 "" IS35319 nsv518396 2 49843521 49843872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695826 S 2026 0 1 "" nsv874030 2 49845557 49885317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500932 S 6533 0 1 "" SP51104 nsv507011 2 49867348 49873348 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623334 S 4 1 0 "" NA18994 esv28054 2 49881058 49881893 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19908 S 451 2 0 "" NA18523,NA18861 nsv522572 2 49946257 49962286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705956 S 2026 0 1 "" esv22744 2 49988223 49989019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18429 S 451 0 1 "" NA19108 esv269090 2 50030270 50030600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557404,essv2578832,essv2561329,essv2526391,essv2530414,essv2572684,essv2568718 M 157 7 0 Samples from several populations that are part of the HapMap project. NRXN1 NA18499,NA18510,NA18523,NA19114,NA19141,NA19143,NA19147 nsv874031 2 50056457 50096890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508856 S 6533 0 1 NRXN1 SP54648 esv273381 2 50187573 50187658 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581519 S 7 1 0 Samples from several populations that are part of the HapMap project. NRXN1 NA12878 nsv527569 2 50225192 50227124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704030 S 2026 0 1 NRXN1 nsv470459 2 50285256 50367531 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547207 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRXN1 HGDP00891 nsv874032 2 50288245 50302642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582911 S 6533 0 1 NRXN1 IS36219 nsv508083 2 50351206 50357206 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618539 S 4 0 1 NRXN1 CHM esv275348 2 50354899 50368334 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585402 S 1250 0 1 NRXN1 esv267745 2 50456116 50456446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557888,essv2546406,essv2542217,essv2536396,essv2523074,essv2556712,essv2523437,essv2577564,essv2521796,essv2576821,essv2525305,essv2550391,essv2535226,essv2544486,essv2552210,essv2520358,essv2529284,essv2564608,essv2578073,essv2553904,essv2559453,essv2576454,essv2520071,essv2561789,essv2537283,essv2546811,essv2539931,essv2520811,essv2557557,essv2557125,essv2551909,essv2532227,essv2562660,essv2549993,essv2558715,essv2537038,essv2539149,essv2569777,essv2527282,essv2561352,essv2544781,essv2523609,essv2552981,essv2541271,essv2538293,essv2540490,essv2524334,essv2564980,essv2534895,essv2561199,essv2539649,essv2549345,essv2519761,essv2560120,essv2522008,essv2565967,essv2530927,essv2532541,essv2568034,essv2528834,essv2567637,essv2541660,essv2569990,essv2563749,essv2553294,essv2535823,essv2572264,essv2559236,essv2566947,essv2541979,essv2551061,essv2569073,essv2543426,essv2556403,essv2527858,essv2562201,essv2539303,essv2578205,essv2573001,essv2533697,essv2555566,essv2574011,essv2527455,essv2556105,essv2534255,essv2573697,essv2543376,essv2577078,essv2572140,essv2525571,essv2529747,essv2575632,essv2575068,essv2538553,essv2526582,essv2560736,essv2524100,essv2560818,essv2574862,essv2530279,essv2568750,essv2545110,essv2560316,essv2549967,essv2571162,essv2545976,essv2574179,essv2551524,essv2535991,essv2549026,essv2533330,essv2554662,essv2547795,essv2525137,essv2563441 M 157 115 0 Samples from several populations that are part of the HapMap project. NRXN1 NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11881,NA11919,NA11920,NA11931,NA11994,NA12004,NA12043,NA12144,NA12154,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12749,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12874,NA12878,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18944,NA18945,NA18951,NA18952,NA18956,NA18959,NA18964,NA18965,NA18970,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273903 2 50456116 50456446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582158,essv2583223,essv2584312,essv2584451,essv2583528 M 7 5 0 Samples from several populations that are part of the HapMap project. NRXN1 NA12878,NA12892,NA19238,NA19239,NA19240 nsv2724 2 50542380 50587825 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6837 S 9 0 1 NRXN1 NA12156 esv267915 2 50570124 50570349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496827,essv2510780,essv2496159,essv2494853,essv2509066,essv2500954,essv2498439,essv2505835,essv2494089,essv2507292,essv2501512,essv2506877,essv2506444,essv2499183,essv2509566,essv2498899,essv2497060 M 157 17 0 Samples from several populations that are part of the HapMap project. NRXN1 NA18498,NA18501,NA18511,NA18519,NA18522,NA18856,NA18858,NA18861,NA18871,NA18912,NA19093,NA19102,NA19108,NA19114,NA19129,NA19138,NA19190 nsv9724 2 50639834 50689115 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28712 S 31 0 1 Samples from several populations that are part of the HapMap project. NRXN1 NA18972 nsv817895 2 50643118 50686339 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417577 S 112 0 1 NRXN1 NA18972 nsv874033 2 50651583 50682535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579256 S 6533 0 1 NRXN1 IS35083 dgv1182e1 2 50651965 50714553 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2947,esv1299 M 271 0 0 NRXN1 NA18972 esv9183 2 50668033 50670003 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31624 S 1 0 0 NRXN1 SJK nsv522125 2 50682535 50682648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694899 S 2026 0 1 NRXN1 nsv874034 2 50708516 50774831 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539660 S 6533 1 0 NRXN1 MS14421 nsv523020 2 50724922 50792463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698699 S 2026 0 1 NRXN1 nsv874035 2 50730546 50800548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588830 S 6533 0 1 NRXN1 IS38258 dgv4119n71 2 50739363 50786446 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874036,nsv874039,nsv874041 M 6533 0 4 NRXN1 IS33760,MS10611,SP55878,SP56886 nsv829264 2 50739989 50740489 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427333 S 31 1 0 NRXN1 AK8 dgv4120n71 2 50743463 50776341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874038,nsv874037 M 6533 0 2 NRXN1 MS16986,SP80913 dgv4121n71 2 50745513 50836690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874040,nsv874042 M 6533 0 2 NRXN1 SP52113,SP53323 nsv874043 2 50756435 50790540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566703 S 6533 0 1 NRXN1 IS30883 nsv874044 2 50777395 50836690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502874 S 6533 0 1 NRXN1 SP51439 nsv874045 2 50777862 50926953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600837 S 6533 0 1 NRXN1 IS41933 nsv521027 2 50786446 50792463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697742 S 2026 0 1 NRXN1 nsv528678 2 50800548 50822312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705318 S 2026 0 1 NRXN1 nsv874046 2 50800548 51132898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570609 S 6533 0 1 NRXN1 IS32289 nsv470460 2 50817045 50913340 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547209,nssv547208 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRXN1 HGDP00382,HGDP01261 nsv526822 2 50817046 50836690 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703177 S 2026 0 1 NRXN1 nsv874047 2 50817046 50847400 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559018 S 6533 0 1 NRXN1 MS23685 nsv457585 2 50817046 50892633 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534738 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRXN1 HGDP01261 nsv522899 2 50818611 50847740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698557 S 2026 0 1 NRXN1 nsv874048 2 50818611 50870615 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523221,nssv1519616 M 6533 2 0 NRXN1 SP50086,SP53802 esv2751896 2 50829675 50894324 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981196,essv6987924 M 771 0 1 NRXN1 BEC_362 nsv520225 2 50836690 50936258 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675262,nssv661985,nssv703711 M 2026 0 3 NRXN1 nsv874049 2 50847759 50936258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560786 S 6533 0 1 NRXN1 MS24705 nsv457596 2 50867151 50907506 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534746 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRXN1 HGDP01155 nsv874050 2 50874992 50912249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531475 S 6533 0 1 NRXN1 MS10470 nsv457618 2 50882166 50913340 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534764 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRXN1 HGDP00382 nsv528417 2 50890216 51092156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705009 S 2026 0 1 NRXN1 nsv874051 2 50892633 50968208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562157,nssv1547555 M 6533 0 2 NRXN1 MS17447,MS25406 nsv457629 2 50895846 50974385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534775 S 1557 0 1 NRXN1 1780862212_A nsv528430 2 50912249 50959356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705023 S 2026 0 1 NRXN1 dgv4122n71 2 50913340 50976552 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874052,nsv874053 M 6533 0 2 NRXN1 IS38455,MS20618 nsv470462 2 50931073 50969123 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547210 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRXN1 HGDP00679 nsv525262 2 50959356 51068497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701362 S 2026 0 1 NRXN1 nsv874054 2 50961637 51304624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564387 S 6533 0 1 NRXN1 IS30204 esv34150 2 51018764 51063670 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 NRXN1 nsv874055 2 51025466 51132898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564847 S 6533 0 1 NRXN1 IS30311 nsv834014 2 51035350 51214041 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441906 S 95 0 1 NRXN1 nsv523528 2 51037063 51037727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699302 S 2026 0 1 NRXN1 nsv508084 2 51039631 51045631 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624269,nssv621522 M 4 0 2 NRXN1 NA15510,NA18994 nsv523833 2 51044748 51044936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699665 S 2026 0 1 NRXN1 dgv627n67 2 51077569 51079003 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829275,nsv829286 M 31 0 4 NRXN1 NA18537,NA18592,NA18969,NA18999 esv993206 2 51077839 51079003 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586868 S 3 0 1 NRXN1 HuRef esv987833 2 51078051 51079045 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582773 S 3 0 1 NRXN1 HuRef dgv628n67 2 51078243 51079053 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829297,nsv829308 M 31 0 3 NRXN1 NA18566,NA18570,NA18582 esv28897 2 51078462 51079177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10561 S 451 0 12 NRXN1 NA12489,NA18505,NA18523,NA18858,NA18907,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv2725 2 51126836 51147981 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6839 S 9 1 0 "" NA12156 nsv521850 2 51132898 51290920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694625 S 2026 0 1 "" dgv1183e1 2 51135218 51219386 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2668,esv412 M 271 0 0 "" NA18967 nsv874056 2 51136113 51189362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539053 S 6533 0 1 "" MS14093 nsv874057 2 51147600 51460063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557643 S 6533 0 1 "" MS22797 dgv4123n71 2 51157742 51199019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874058,nsv874059 M 6533 0 4 "" MS15525,MS16834,MS17232,MS18784 nsv520083 2 51164471 51199019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697215 S 2026 0 1 "" nsv457651 2 51179406 51211406 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534788 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00766 dgv4124n71 2 51180001 51214171 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874061,nsv874060 M 6533 0 8 "" MS12577,MS14281,MS20200,MS21038,MS21840,MS24151,MS24360,MS24888 nsv874062 2 51203727 51316791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563685 S 6533 0 1 "" IS30039 nsv457674 2 51222043 51330460 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534808 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00145 esv990098 2 51224073 51226156 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564214 S 3 1 0 "" HuRef nsv457685 2 51275286 51330460 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534819 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056 nsv457696 2 51280678 51306583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534830 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00157 esv268673 2 51284183 51284543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511760,essv2510766,essv2496246,essv2494115,essv2504598,essv2506529,essv2498975 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18511,NA18871,NA19099,NA19108,NA19114 esv271578 2 51322706 51323033 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518737,essv2518081,essv2514372,essv2517725,essv2518954,essv2518399 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12872,NA12874,NA12878,NA19141,NA19240 esv273925 2 51322706 51323033 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581371,essv2581289 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv874063 2 51332674 51373831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581945 S 6533 0 1 "" IS35770 nsv874064 2 51346477 51447984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583877 S 6533 0 1 "" IS36722 nsv9735 2 51363187 51364969 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28008,nssv24581 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18853 nsv821624 2 51367429 51698368 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421257 S 31 0 1 "" nsv518215 2 51371279 51373831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695640 S 2026 0 1 "" dgv4125n71 2 51391535 51533993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874066,nsv874065 M 6533 0 2 "" IS41924,MS17114 nsv874067 2 51416820 51460063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579390 S 6533 0 1 "" IS35100 nsv874068 2 51422546 51502240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569567,nssv1591979 M 6533 0 2 "" IS31634,IS39119 esv272055 2 51466937 51467290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546412,essv2525861,essv2542308,essv2571061,essv2548245,essv2550487,essv2535332,essv2529174,essv2558481,essv2564622,essv2565492,essv2520170,essv2554823,essv2557029,essv2552507,essv2578715,essv2537047,essv2569789,essv2527199,essv2561403,essv2523577,essv2552918,essv2540279,essv2565083,essv2561049,essv2519599,essv2560006,essv2566088,essv2535873,essv2572446,essv2559077,essv2566820,essv2539514,essv2534017,essv2555689,essv2534459,essv2531612,essv2577057,essv2575229,essv2526553,essv2560614,essv2524028,essv2574898,essv2572796,essv2548162,essv2571415,essv2545879,essv2574255,essv2551300,essv2537868,essv2554408 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA11881,NA11918,NA11919,NA11993,NA12045,NA12234,NA12249,NA12749,NA12750,NA12751,NA12812,NA12815,NA12872,NA18501,NA18502,NA18510,NA18517,NA18520,NA18522,NA18523,NA18537,NA18542,NA18552,NA18558,NA18562,NA18566,NA18570,NA18572,NA18608,NA18609,NA18638,NA18853,NA18912,NA18916,NA18945,NA18959,NA18961,NA18970,NA19102,NA19114,NA19116,NA19129,NA19138,NA19143,NA19210,NA19238,NA19239,NA19240,NA19257 esv273586 2 51466943 51467292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584311,essv2584612,essv2583847 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv470463 2 51496689 51521646 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547211 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00553 nsv437446 2 51504747 51518891 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467327 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12801 nsv527513 2 51527080 51547102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703967 S 2026 0 1 "" nsv874069 2 51576611 51860087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545614 S 6533 0 1 "" MS16852 nsv457707 2 51597192 51625568 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534839 S 1557 0 1 "" NINDS_130 nsv874070 2 51606865 51663943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582912,nssv1593610 M 6533 0 2 "" IS36219,IS39464 dgv459n27 2 51610465 51667472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457718,nsv457729 M 1557 0 2 "" 1780854299_A,1780862355_A nsv457740 2 51622416 51654887 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534865 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01185 nsv523014 2 51623573 51625568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698689 S 2026 0 1 "" nsv817906 2 51625568 51635357 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416033,nssv1416034 M 112 0 2 "" NA12801,NA12813 esv26575 2 51626042 51635323 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16428 S 451 0 1 "" NA07045 nsv9746 2 51626222 51642164 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28663,nssv28752,nssv25172 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18552,NA18972 nsv874071 2 51640024 51672890 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580236 S 6533 1 0 "" IS35244 nsv527776 2 51730167 51751780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704267 S 2026 0 1 "" nsv874072 2 51736960 51781546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549225 S 6533 0 1 "" MS18143 nsv518405 2 51751780 51753298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695836 S 2026 0 1 "" nsv874073 2 51759601 51781546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590419,nssv1598244 M 6533 0 2 "" IS38508,IS41045 nsv874074 2 51759601 51783534 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576316 S 6533 1 0 "" IS34005 nsv874075 2 51763257 51783534 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572181,nssv1581060,nssv1582913 M 6533 1 2 "" IS32888,IS35498,IS36219 dgv4126n71 2 51767858 51788252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874076,nsv874077 M 6533 0 11 "" IS30171,IS30537,IS31041,IS35622,IS36533,IS36876,IS38239,IS40494,IS41874,IS41924,IS41940 nsv516396 2 51767858 51788252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657346,nssv672078,nssv673255,nssv685945,nssv687964,nssv682642,nssv679062,nssv671006,nssv663423,nssv663480,nssv691159,nssv659593,nssv687114,nssv676058,nssv690256,nssv657863,nssv658300,nssv683343,nssv670679,nssv664566,nssv681956,nssv680914,nssv692212,nssv677753,nssv657992,nssv679829,nssv663601,nssv671586,nssv675767,nssv683711,nssv690214,nssv669195,nssv686387,nssv657208,nssv689021,nssv674370,nssv692733,nssv680514,nssv676011,nssv687346,nssv690606,nssv686070,nssv664218,nssv690551,nssv653887,nssv676235,nssv671229,nssv684548,nssv669342,nssv660092,nssv661654,nssv671748,nssv677658,nssv671493,nssv661107,nssv689610,nssv678028,nssv671870,nssv664369,nssv652875,nssv684532,nssv688360,nssv680112,nssv653787,nssv691675,nssv653057,nssv668104,nssv672002,nssv665548,nssv668852,nssv673568,nssv663948,nssv661368,nssv659688,nssv675213,nssv672845,nssv693314,nssv652071,nssv653109,nssv687696,nssv683131,nssv655473,nssv682233,nssv672158,nssv682944,nssv678492,nssv655172,nssv683436,nssv652720,nssv662627,nssv665916,nssv682929,nssv691985,nssv658855,nssv682539,nssv672445,nssv678512,nssv691189,nssv688705,nssv661780,nssv676470,nssv693719,nssv661041,nssv689422,nssv655968,nssv693137,nssv665871,nssv653033,nssv652310,nssv685070,nssv661171,nssv665650,nssv658285,nssv678757,nssv653924,nssv661253,nssv689884,nssv692126,nssv654826,nssv682111,nssv685249,nssv691653,nssv685142,nssv666131,nssv653679,nssv692150,nssv655557,nssv661578,nssv691555,nssv658840,nssv688085,nssv653980,nssv690969,nssv683840,nssv684259,nssv664201,nssv652937,nssv687798,nssv681484,nssv656234,nssv663831,nssv662715,nssv674731,nssv657638,nssv662494,nssv673850,nssv676909,nssv683193,nssv665521,nssv669477,nssv667228,nssv675389,nssv676283,nssv666105,nssv656058,nssv655426,nssv678377,nssv685759,nssv687477,nssv692652,nssv653507,nssv665589,nssv690981,nssv670717,nssv655450,nssv681579,nssv674459,nssv679623,nssv681219,nssv683508,nssv680230,nssv658415,nssv669279,nssv661808,nssv653241,nssv669036,nssv669135,nssv691771,nssv671828,nssv666628,nssv672567,nssv669835,nssv692895,nssv678573,nssv657844,nssv684182,nssv660472,nssv657700,nssv652600,nssv687157,nssv665708,nssv681307,nssv667251 M 2026 0 193 "" nsv511161 2 51775035 51781546 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626121 S 1 0 1 "" 1 nsv874078 2 51776071 51788252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592960,nssv1580594,nssv1590089,nssv1586227,nssv1594449,nssv1579477,nssv1553503,nssv1574200,nssv1566502 M 6533 0 9 "" IS30764,IS33530,IS35111,IS35388,IS37698,IS38459,IS39326,IS39881,MS20073 nsv511785 2 51779841 51781755 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626435 S 1 0 1 "" 1 nsv9757 2 51780050 51781946 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26377,nssv25441,nssv28188 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12155 nsv471780 2 51780080 51781274 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646061 M 0.312 95 "" esv2422151 2 51780103 51781218 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5106357,essv5121646,essv5038658,essv5081353,essv5066532,essv5056370,essv5090540,essv5128940,essv5081776,essv5101445,essv5008622,essv5051184,essv5071998,essv5092445,essv5105142,essv5073709,essv5093899,essv5098776,essv5145751,essv5036751,essv5024405,essv5016223,essv5091660,essv5073644,essv5084869,essv5053578,essv5126963,essv5047665,essv5054220,essv5147266,essv5011667,essv5033154,essv5146826,essv5104915,essv5110364,essv5062532,essv5070694,essv5029083,essv5144362,essv5156230,essv5130498,essv5154672,essv5034147,essv5066469,essv5100694,essv5113079,essv5034638,essv5099856,essv5095192,essv5091510,essv5160679,essv5145583,essv5033853,essv5003151,essv5156534,essv5119347,essv5068273,essv5134877,essv5142118,essv5023951,essv5037107,essv5088469,essv5105274,essv5145548,essv5109465,essv5160697,essv5124629,essv5014382,essv5152048,essv5043126,essv5052512,essv5094269,essv5145341,essv5124397,essv5014420,essv5134805,essv5047156,essv5055104,essv5076935,essv5150267,essv5114582,essv5138089,essv5098660,essv5062807,essv5058991,essv5093839,essv5107626,essv5064661,essv5096001,essv5152839,essv5031091,essv5101341,essv5146342,essv5126808,essv5133748,essv5059451,essv5090570,essv5149996,essv5010463,essv5092153,essv5044577,essv5058114,essv5023598,essv5003173,essv5104580,essv5099009,essv5118671,essv5143451,essv5027317,essv5123999,essv5149517,essv5047607,essv5056694,essv5023580,essv5099186,essv5134948,essv5119970,essv5039778,essv5158610,essv5032440,essv5008418,essv5045725 M 1184 0 122 "" NA06986,NA06997,NA07346,NA07349,NA10831,NA10847,NA10850,NA10859,NA10863,NA11843,NA11882,NA11917,NA11931,NA12043,NA12155,NA12239,NA12249,NA12264,NA12283,NA12342,NA12348,NA12386,NA12399,NA12546,NA12708,NA12718,NA12739,NA12748,NA12749,NA12753,NA12763,NA12818,NA12829,NA12830,NA12877,NA12878,NA12890,NA12891,NA19625,NA19651,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19670,NA19676,NA19681,NA19683,NA19684,NA19685,NA19686,NA19725,NA19727,NA19746,NA19747,NA19748,NA19755,NA19756,NA19757,NA19761,NA19777,NA19782,NA19783,NA19784,NA19788,NA19790,NA19819,NA19914,NA20301,NA20302,NA20502,NA20512,NA20517,NA20528,NA20539,NA20755,NA20771,NA20778,NA20783,NA20797,NA20805,NA20813,NA20818,NA20826,NA20849,NA20852,NA20859,NA20861,NA20872,NA20873,NA20875,NA20890,NA20891,NA20894,NA20895,NA20896,NA20900,NA20901,NA20906,NA20909,NA20910,NA21097,NA21099,NA21101,NA21105,NA21108,NA21137,NA21357,NA21368,NA21400,NA21401,NA21478,NA21480,NA21509,NA21513,NA21514,NA21574,NA21575,NA21635,NA21636 esv24204 2 51780138 51781276 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16112 S 451 0 5 "" NA11931,NA12239,NA12749,NA12878,NA15510 dgv4127n71 2 51789301 51937070 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874079,nsv874080 M 6533 0 2 "" IS39564,MS15312 esv1353181 2 51797049 51797119 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746164 S 2 0 1 "" HuRef nsv215007 2 51797059 51797122 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233585 M 24 "" nsv520028 2 51820748 51839843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660149,nssv693012 M 2026 0 2 "" dgv629n67 2 51827254 51827791 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829330,nsv829319 M 31 0 12 "" AK12,AK16,AK18,AK6,NA18526,NA18537,NA18564,NA18566,NA18968,NA18972,NA18973,NA18997 esv998671 2 51827289 51827791 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587031 S 3 0 1 "" HuRef esv7907 2 51827318 51827761 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30348 S 1 0 1 "" SJK nsv874081 2 51829436 51915612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582537,nssv1535481,nssv1589390 M 6533 0 3 "" IS35993,IS38349,MS12244 nsv829341 2 51836693 51837138 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427334 S 31 1 0 "" AK8 esv269900 2 51849442 51849538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510267,essv2502519,essv2504262,essv2506207,essv2500940,essv2507350,essv2502275 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12750,NA18505,NA18523,NA18856,NA18912,NA19257 nsv874082 2 51860087 51892051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599832 S 6533 0 1 "" IS41801 dgv4128n71 2 51877854 51949761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874086,nsv874083,nsv874089 M 6533 0 3 "" IS31373,IS37226,IS41043 dgv4129n71 2 51878627 51922011 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874085,nsv874084 M 6533 0 2 "" MS13480,SP52694 nsv874087 2 51884487 51913629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587548 S 6533 0 1 "" IS38065 nsv526861 2 51889819 51892179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703219 S 2026 1 0 "" nsv457751 2 51894346 51913629 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534874 S 1557 0 1 "" NINDS_95 nsv874088 2 51896017 51915612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598764 S 6533 0 1 "" IS41113 nsv457774 2 51901779 51919471 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534896 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01053 dgv460n27 2 51904573 51918921 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457796,nsv457785 M 1557 0 2 "" HGDP00157,HGDP01337 nsv874090 2 51904573 51922011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594582 S 6533 0 1 "" IS39944 dgv4130n71 2 51910791 51927124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874091,nsv874092 M 6533 0 2 "" MS18620,MS18947 nsv874093 2 51910791 51942630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551272 S 6533 0 1 "" MS18847 nsv525128 2 51913629 51913735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701196 S 2026 0 1 "" nsv524762 2 51913629 51919855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700753 S 2026 0 1 "" nsv817917 2 51913629 51919855 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418430 S 112 0 1 "" NA19193 dgv4131n71 2 51922011 52027691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874094,nsv874095 M 6533 0 2 "" IS31419,MS22104 nsv518842 2 51937070 51942630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696296 S 2026 0 1 "" nsv517644 2 51937093 51937820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652659,nssv688959 M 2026 0 2 "" nsv526141 2 51949761 52116436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702396 S 2026 0 1 "" nsv518024 2 51984711 51985046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695434 S 2026 0 1 "" nsv2726 2 51990584 52025175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1493 S 9 1 0 "" NA19240 nsv874096 2 52003538 52049176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522503 S 6533 1 0 "" SP53184 nsv874097 2 52019502 52081328 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548159 S 6533 1 0 "" MS17718 nsv874098 2 52060865 52114256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554821 S 6533 0 1 "" MS21020 nsv874099 2 52086967 52132703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521789 S 6533 0 1 "" SP52579 nsv874100 2 52100791 52356868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548160 S 6533 1 0 "" MS17718 dgv4132n71 2 52101695 52254925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874102,nsv874101 M 6533 0 3 "" SP50038,SP52353,SP54510 nsv526275 2 52109101 52169802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702553 S 2026 0 1 "" nsv829352 2 52118337 52119195 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433493 S 31 0 1 "" NA18526 esv270580 2 52146109 52146422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504010 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv2617262 2 52146356 52147919 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390803 S 1 0 1 "" NA18507 nsv874103 2 52156106 52193187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574427 S 6533 0 1 "" IS33566 nsv874104 2 52181728 52223385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574246,nssv1520228,nssv1601102,nssv1584916 M 6533 0 4 "" IS33533,IS37194,IS41971,SP50756 nsv874105 2 52181728 52254925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568268 S 6533 0 1 "" IS31228 dgv4133n71 2 52181728 52317114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874106,nsv874107,nsv874108 M 6533 0 4 "" IS33763,IS36992,IS41955,SP56914 nsv874109 2 52237202 52344039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568096 S 6533 0 1 "" IS31205 nsv874110 2 52237202 52436039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595840 S 6533 0 1 "" IS40343 nsv874111 2 52237202 52815559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535243 S 6533 1 0 "" MS12092 nsv874112 2 52268227 52402976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533239 S 6533 0 1 "" MS11058 nsv523804 2 52356868 52406527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699633 S 2026 0 1 "" nsv834025 2 52368463 52546553 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441908 S 95 1 0 "" dgv4134n71 2 52374630 52481739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874114,nsv874113 M 6533 0 2 "" MS10737,MS23531 nsv874115 2 52406527 52463211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544929 S 6533 1 0 "" MS16591 esv2525016 2 52412128 52413624 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253508 S 1 0 1 "" NA18507 nsv874116 2 52436270 52539096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600359 S 6533 0 1 "" IS41874 dgv4135n71 2 52487067 52599061 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874120,nsv874117 M 6533 0 2 "" IS33533,IS39011 nsv829364 2 52489063 52490126 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421528 S 31 0 1 "" NA18997 nsv2727 2 52494480 52527269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6840 S 9 1 0 "" NA12156 dgv4136n71 2 52499840 52548142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874119,nsv874118 M 6533 0 3 "" MS15545,SP80961,SP81067 esv1152167 2 52508451 52508545 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854974 S 2 0 1 "" HuRef dgv4137n71 2 52521448 52583525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874121,nsv874122 M 6533 0 4 "" MS14824,MS15371,MS19703,MS21258 nsv874123 2 52559993 52583525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600513 S 6533 0 1 "" IS41894 nsv874124 2 52559993 52613957 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556297 S 6533 0 1 "" MS21905 nsv2728 2 52578681 52661400 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11013,nssv6841,nssv4415,nssv9348 M 9 0 4 "" NA12156,NA12878,NA15510,NA18517 nsv834036 2 52580744 52769704 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441909 S 95 0 1 "" dgv1184e1 2 52580884 52668041 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17541,esv143 M 271 0 0 "" NA12762 nsv874125 2 52588872 52704577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600971,nssv1593097 M 6533 0 2 "" IS39356,IS41955 nsv508142 2 52601629 52640273 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622810 S 4 0 1 "" NA18994 nsv435718 2 52602916 52639952 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465900 S 2 0 1 "" NA15510 esv23520 2 52602921 52638820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19466 S 451 0 10 "" NA11894,NA11993,NA11995,NA12156,NA12414,NA12749,NA12878,NA15510,NA18517,NA19114 nsv9769 2 52603071 52639175 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24571,nssv28198,nssv28790,nssv25959,nssv25452,nssv28703,nssv25710,nssv27934,nssv27284,nssv23704,nssv25721,nssv27291,nssv26551,nssv26174 M 31 0 14 Samples from several populations that are part of the HapMap project. "" NA11830,NA12740,NA12802,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA19007,NA19144 nsv819845 2 52603073 52638746 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418723 S 2 0 1 "" AK1 dgv630n67 2 52603146 52639232 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829386,nsv829375 M 31 0 24 "" AK10,AK12,AK18,AK2,AK20,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 esv2831 2 52603158 52638854 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25272 S 1 0 1 Single Asian sample YH "" YH nsv514068 2 52603216 52637452 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628336 S 1414 0 1 "" esv33556 2 52603248 52639345 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101496,essv98699,essv97536,essv101126,essv93908,essv100750,essv96810,essv95081,essv98183,essv94751,essv93970,essv94447,essv96984,essv97935,essv95419,essv93045,essv95903,essv94572,essv99113,essv92883,essv96179,essv96737,essv97110,essv98536,essv96007,essv93433,essv93285,essv95040,essv92520,essv96487,essv97698,essv100458,essv100430,essv99507,essv98426,essv96402 M 51 32 4 "" 21603,21606,21616,21618,21634,21656,21659,21721,21772,21791,21802,21808,21817,21837,21847,21863,21911,21932,21938,21939,22007,22011,22075,22085,22127,22128,22170,22231,22233,22261,22278,22298,22300,22335,22352,22371 nsv438337 2 52605035 52636054 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470729,nssv470973,nssv470983,nssv470818,nssv470985,nssv470970,nssv470940,nssv470852,nssv470774,nssv470975,nssv470993,nssv470996,nssv470984,nssv470990,nssv470907,nssv470829,nssv470741,nssv470987,nssv470997,nssv470982,nssv470974,nssv470929,nssv470998,nssv470977,nssv470718,nssv470918,nssv470951,nssv470986,nssv470896,nssv470785,nssv470989,nssv470840,nssv470971,nssv470807,nssv470752,nssv470999,nssv470874,nssv470963,nssv470981,nssv470972,nssv470796,nssv470988,nssv470994,nssv470992,nssv470763,nssv470885,nssv470995,nssv470976,nssv470863,nssv470978 M 269 0 49 Samples from several populations that are part of the HapMap project. "" NA07019,NA07056,NA10856,NA10859,NA11881,NA11993,NA12249,NA12717,NA12753,NA12762,NA12812,NA12815,NA12878,NA12891,NA18524,NA18526,NA18537,NA18542,NA18545,NA18547,NA18561,NA18564,NA18570,NA18571,NA18579,NA18608,NA18609,NA18620,NA18621,NA18637,NA18940,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18964,NA18968,NA18975,NA18976,NA18978,NA18981,NA18990,NA18991,NA18992,NA18994,NA18995,NA19007 nsv442734 2 52605074 52635046 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421377 2 52607972 52637176 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5089598,essv5103358,essv5062536,essv5027297,essv5127976,essv5050848,essv5069393,essv5122471,essv5106021,essv5121524,essv5017708,essv5131885,essv5062828,essv5135649,essv5051008,essv5014021,essv5112400,essv5005459,essv5019194,essv5067892,essv5154212,essv5053266,essv5140094,essv5004572,essv5022698,essv5131945,essv5044359,essv5082798,essv5159628,essv5095464,essv5131554,essv5104428,essv5049986,essv5108180,essv5007293,essv5156005,essv5118823,essv5058435,essv5040070,essv5024118,essv5096944,essv5158697,essv5077248,essv5090606,essv5102432,essv5124462,essv5156421,essv5064184,essv5075848,essv5009777,essv5151352,essv5029264,essv5004955,essv5159186,essv5090908,essv5092131,essv5108405,essv5013870,essv5039672,essv5030175,essv5120659,essv5099976,essv5107258,essv5021478,essv5092754,essv5035504,essv5054539,essv5095856,essv5126617,essv5047457,essv5150010,essv5070202,essv5067482,essv5156597,essv5071578,essv5036342,essv5123443,essv5038288,essv5014397,essv5075108,essv5061709,essv5026847,essv5158548,essv5049714,essv5108895,essv5132241,essv5082828,essv5055086,essv5095435,essv5023090,essv5006647,essv5145154,essv5111806,essv5120542,essv5056643,essv5158241,essv5112801,essv5051440,essv5012459,essv5108043,essv5087660,essv5023732,essv5044589,essv5133335,essv5096147,essv5061561,essv5014119,essv5056478,essv5147041,essv5122658,essv5028188,essv5098383,essv5044376,essv5078695,essv5059422,essv5065031,essv5084157,essv5032707,essv5090115,essv5123858,essv5132149,essv5103045,essv5078907,essv5159144,essv5125062,essv5111461,essv5081556,essv5120050,essv5021604,essv5094194,essv5009994,essv5028942,essv5038368,essv5093731,essv5006877,essv5023342,essv5081750,essv5053659,essv5045051,essv5037683,essv5106759,essv5098656,essv5029309,essv5159695,essv5082833,essv5061357,essv5136066,essv5113128,essv5142116,essv5109690,essv5108433,essv5091679,essv5052464,essv5062530,essv5150545,essv5081889,essv5010922,essv5156007,essv5139701,essv5128133,essv5077655,essv5051361,essv5004480,essv5062137,essv5031332,essv5081888,essv5110782,essv5048831,essv5012385,essv5057243,essv5117539,essv5041744,essv5084027,essv5049102,essv5104301,essv5125929,essv5018052,essv5119751,essv5059502,essv5120795,essv5112746,essv5145321,essv5130744,essv5097554,essv5005693,essv5154226,essv5109578,essv5057176,essv5085958,essv5111663,essv5095057,essv5067431,essv5130145,essv5135458,essv5135259,essv5004514,essv5148839,essv5033061,essv5084746,essv5100491,essv5071598,essv5136711,essv5115282,essv5033776,essv5059506,essv5033772,essv5132375,essv5052579,essv5052334,essv5074269,essv5066529,essv5009205,essv5115919,essv5044832,essv5128171,essv5105104,essv5084544,essv5091728,essv5098469,essv5134591,essv5152330,essv5088307,essv5046148,essv5061321,essv5105318,essv5070070,essv5019170,essv5073573,essv5023918,essv5037908,essv5057294,essv5131841,essv5113783,essv5046603,essv5039823,essv5016989,essv5002167,essv5057609,essv5015061,essv5160474,essv5096168,essv5139774,essv5023917,essv5053505,essv5075999,essv5090748,essv5157008,essv5143021,essv5048937,essv5131431,essv5157785,essv5135064,essv5078927,essv5025592,essv5108337,essv5095897,essv5143381,essv5006332,essv5105344,essv5080958,essv5021913,essv5115697,essv5138044,essv5127456,essv5057171,essv5126929,essv5129154,essv5088990,essv5048299,essv5146262,essv5048996,essv5075311,essv5106885,essv5071905,essv5014161,essv5108517,essv5130526,essv5110845,essv5050694,essv5019400,essv5017231,essv5121549,essv5146598,essv5027862,essv5059171,essv5081506,essv5030084,essv5148535,essv5025528,essv5070260,essv5085242,essv5077540,essv5144029,essv5116479,essv5106445,essv5072134,essv5091454,essv5026348,essv5126996,essv5056462,essv5097133,essv5062693,essv5015150,essv5112755,essv5017621,essv5009560,essv5154880,essv5048904,essv5086169,essv5015610,essv5153780,essv5138724,essv5139294,essv5126871,essv5144053,essv5036453,essv5128024,essv5004311,essv5119131,essv5034258,essv5086351,essv5063352,essv5099674,essv5076939,essv5090796,essv5120496,essv5141742,essv5129727,essv5084255,essv5093228,essv5086408,essv5148592,essv5090886,essv5129560,essv5093905,essv5031683,essv5159649,essv5115066,essv5123202,essv5121545,essv5045190,essv5050137,essv5111076,essv5090196,essv5149314,essv5037898,essv5118766,essv5049856,essv5142952,essv5054507,essv5069427,essv5040106,essv5045110,essv5038698,essv5050630,essv5061806,essv5153495,essv5140849,essv5113712,essv5004120,essv5123314,essv5111018,essv5097161,essv5134804,essv5142251,essv5100756,essv5155459,essv5076926,essv5123436,essv5023619,essv5112806,essv5153526,essv5024799,essv5058063,essv5067616,essv5073572,essv5109418,essv5041505,essv5035032,essv5004632,essv5135792,essv5044749,essv5085765,essv5160298,essv5009707,essv5055574,essv5011080,essv5041388,essv5139024,essv5097530,essv5014729,essv5144777,essv5026410,essv5135530,essv5130540,essv5106942,essv5084537,essv5152078,essv5051745,essv5041757,essv5120776,essv5064089,essv5094448,essv5010751,essv5062061,essv5033178,essv5135958,essv5062615,essv5140158,essv5022736,essv5125946,essv5088342,essv5079791,essv5005555,essv5044939,essv5042605,essv5133708,essv5133022,essv5050575,essv5135914,essv5071675,essv5035978,essv5055505,essv5102206,essv5092280,essv5010367,essv5057491,essv5149574,essv5154674,essv5098651,essv5137264,essv5065534,essv5037346,essv5139658,essv5111160,essv5014385,essv5137022,essv5156845,essv5139746,essv5014954,essv5073496,essv5071540,essv5091249,essv5099420,essv5130118,essv5094290,essv5080305,essv5148117,essv5021382,essv5026136,essv5088572,essv5083247,essv5039296,essv5130178,essv5106040,essv5126019,essv5100107,essv5142081,essv5112622,essv5031002,essv5026433,essv5130719,essv5139743,essv5050043,essv5086085,essv5059120,essv5036659,essv5103683,essv5139247,essv5057363,essv5156700,essv5122994,essv5068025,essv5077337,essv5129091,essv5019928,essv5128717,essv5141069,essv5133106,essv5066786,essv5038593,essv5042377,essv5074909,essv5103844,essv5008513,essv5007224,essv5129181,essv5061911,essv5146142,essv5140387,essv5146720,essv5027489,essv5053761,essv5008261,essv5111207,essv5059230,essv5154776,essv5151935,essv5082753,essv5136106,essv5069992,essv5043396,essv5018132,essv5160616,essv5042753,essv5002441,essv5124447,essv5107855,essv5034339,essv5053300,essv5126884,essv5049939,essv5106203,essv5148105,essv5053413,essv5011036,essv5097158,essv5136662 M 1184 0 518 "" NA06986,NA06989,NA06991,NA06993,NA07022,NA07051,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA10830,NA10831,NA10835,NA10836,NA10837,NA10840,NA10845,NA10846,NA10850,NA10854,NA10855,NA10856,NA10859,NA10864,NA11829,NA11830,NA11831,NA11839,NA11843,NA11881,NA11882,NA11891,NA11893,NA11894,NA11917,NA11918,NA11930,NA11992,NA11993,NA11995,NA12043,NA12057,NA12145,NA12146,NA12156,NA12234,NA12249,NA12272,NA12273,NA12275,NA12286,NA12336,NA12341,NA12342,NA12343,NA12344,NA12348,NA12375,NA12383,NA12400,NA12546,NA12707,NA12708,NA12716,NA12718,NA12740,NA12749,NA12750,NA12753,NA12761,NA12762,NA12763,NA12767,NA12778,NA12801,NA12802,NA12812,NA12815,NA12832,NA12842,NA12843,NA12864,NA12873,NA12878,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA18102,NA18105,NA18106,NA18108,NA18109,NA18112,NA18118,NA18120,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18134,NA18135,NA18136,NA18139,NA18140,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18166,NA18510,NA18517,NA18524,NA18526,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18559,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18595,NA18596,NA18597,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18627,NA18628,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18694,NA18696,NA18702,NA18704,NA18745,NA18748,NA18749,NA18757,NA18852,NA18870,NA18912,NA18924,NA18939,NA18940,NA18942,NA18943,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18960,NA18961,NA18962,NA18964,NA18965,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19084,NA19085,NA19087,NA19088,NA19098,NA19114,NA19137,NA19144,NA19181,NA19182,NA19198,NA19199,NA19203,NA19321,NA19434,NA19448,NA19625,NA19650,NA19651,NA19652,NA19653,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19683,NA19684,NA19685,NA19704,NA19705,NA19714,NA19716,NA19718,NA19720,NA19721,NA19722,NA19726,NA19727,NA19750,NA19771,NA19773,NA19775,NA19782,NA19783,NA19818,NA19835,NA19904,NA20126,NA20289,NA20290,NA20292,NA20294,NA20322,NA20341,NA20356,NA20506,NA20510,NA20512,NA20517,NA20518,NA20520,NA20521,NA20524,NA20527,NA20528,NA20531,NA20541,NA20542,NA20543,NA20544,NA20581,NA20586,NA20589,NA20752,NA20754,NA20755,NA20756,NA20757,NA20758,NA20761,NA20768,NA20770,NA20771,NA20773,NA20774,NA20775,NA20783,NA20785,NA20787,NA20790,NA20792,NA20801,NA20802,NA20805,NA20807,NA20809,NA20811,NA20826,NA20846,NA20847,NA20849,NA20850,NA20851,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20871,NA20872,NA20873,NA20875,NA20876,NA20877,NA20882,NA20885,NA20888,NA20891,NA20892,NA20894,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20909,NA20910,NA20911,NA21086,NA21088,NA21091,NA21092,NA21094,NA21097,NA21099,NA21100,NA21101,NA21102,NA21104,NA21106,NA21107,NA21112,NA21113,NA21115,NA21117,NA21118,NA21119,NA21125,NA21137,NA21141,NA21142,NA21143,NA21300,NA21301,NA21344,NA21355,NA21357,NA21360,NA21362,NA21366,NA21378,NA21384,NA21386,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21405,NA21417,NA21420,NA21421,NA21451,NA21493,NA21494,NA21509,NA21520,NA21521,NA21524,NA21525,NA21526,NA21527,NA21529,NA21575,NA21583,NA21613,NA21616,NA21617,NA21619,NA21632,NA21647,NA21678,NA21689,NA21693,NA21722,NA21723,NA21733,NA21776,NA21784 nsv433188 2 52613957 52637176 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463069 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv819029 2 52613957 52637176 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418817,nssv1418857 M 2 0 1 "" AK1 nsv874126 2 52637176 52695099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576030 S 6533 0 1 "" IS33864 nsv9780 2 52651304 52653547 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28887 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv874127 2 52651344 52786811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566490 S 6533 0 1 "" IS30763 nsv874128 2 52668008 52713333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578802,nssv1592758 M 6533 0 2 "" IS34909,IS39250 dgv4138n71 2 52679905 52748401 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874130,nsv874129 M 6533 0 25 "" IS30412,IS31000,IS31285,IS31302,IS33261,IS34353,IS35148,IS35411,IS37214,IS37837,IS38145,IS38668,IS38972,IS39391,IS39716,IS40086,IS40310,IS40492,IS40677,IS40734,IS41331,IS41603,MS10567,MS15359,MS25184 nsv517582 2 52682962 52746669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656674,nssv652433,nssv667656 M 2026 0 3 "" nsv834047 2 52727761 52909743 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441910 S 95 1 0 "" nsv874131 2 52752510 52786811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591551 S 6533 0 1 "" IS38987 dgv4139n71 2 52762591 52881302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874133,nsv874134,nsv874132 M 6533 0 20 "" IS30340,IS30432,IS31098,IS33493,IS33530,IS33669,IS34047,IS34092,IS34912,IS35319,IS35336,IS35788,IS36893,IS38055,IS38371,IS38412,IS40342,IS41783,IS41940,MS24139 nsv508085 2 52767062 52773062 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622340 S 4 0 1 "" NA10860 nsv874135 2 52790821 52915338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576496 S 6533 0 1 "" IS34081 nsv507012 2 52804242 52810242 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620716,nssv621995,nssv623335,nssv617562 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv527135 2 52810528 52873326 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703522 S 2026 0 1 "" nsv508086 2 52842697 52848697 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618540 S 4 0 1 "" CHM nsv524510 2 52855729 52883840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700454 S 2026 0 1 "" nsv457807 2 52857244 52881302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534929 S 1557 0 1 "" NINDS_38 nsv524806 2 52866824 52905984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700798 S 2026 0 1 "" nsv520722 2 52893274 53274519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674792,nssv690894,nssv702554,nssv702363 M 2026 0 4 "" esv32824 2 52904791 52904952 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100653 S 51 0 1 "" 21656 nsv508087 2 52906260 52912260 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622341,nssv624271 M 4 0 2 "" NA10860,NA18994 dgv16e24 2 52921159 52921931 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750524,esv2750624,esv2750633,esv2750695,esv2750754,esv2750778,esv2750670 M 51 0 7 "" 21659,21772,21808,21817,21847,21938,22335 esv2605826 2 52952973 52954542 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162229 S 1 0 1 "" NA18507 dgv4140n71 2 52954570 53072278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874138,nsv874137,nsv874136 M 6533 0 22 "" IS30295,IS30478,IS31062,IS31213,IS32666,IS33768,IS34409,IS34791,IS35229,IS38153,IS38210,IS38309,IS38503,IS38610,IS39320,IS39373,IS39714,IS40296,IS41888,IS41918,MS10739,MS15487 esv33478 2 52960747 52960876 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99822 S 51 0 1 "" 22086 esv33728 2 52979169 52985184 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99513 S 51 1 0 "" 22335 esv270469 2 53007052 53007375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516069 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 dgv4141n71 2 53070421 53130709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874140,nsv874139 M 6533 0 2 "" SP55526,SP58299 nsv829397 2 53102901 53105487 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429630 S 31 0 1 "" AK14 esv28600 2 53103070 53105910 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11531 S 451 0 3 "" NA18511,NA18907,NA18916 nsv874141 2 53117148 53206134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570529 S 6533 0 1 "" IS32166 nsv829408 2 53145844 53146557 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438651 S 31 0 1 "" NA18973 esv2751897 2 53211709 53328842 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989732,essv6983094,essv6983095 M 771 0 1 "" BEC_542 nsv829419 2 53212397 53213043 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436418 S 31 0 1 "" NA18542 esv2474094 2 53218828 53220298 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265963 S 1 0 1 "" NA18507 esv2274279 2 53219399 53219964 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976554 S 1 0 1 "" NA18507 nsv508088 2 53237894 53243894 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624272,nssv622342,nssv618541 M 4 0 3 "" CHM,NA10860,NA18994 esv269926 2 53313532 53313617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517070,essv2518663,essv2515777,essv2515849,essv2514210,essv2517890,essv2519119 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12045,NA12815,NA12873,NA12874,NA12878,NA19141 esv274336 2 53313532 53313617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581482 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv219n21 2 53328842 53405104 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522095,nsv522463 M 2026 0 2 "" nsv874142 2 53336130 53462867 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600337 S 6533 1 0 "" IS41870 esv2014731 2 53341208 53341652 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497500 S 1 0 1 "" NA18507 nsv874143 2 53352566 53496597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507761 S 6533 0 1 "" SP54551 nsv874144 2 53364050 53415079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535469,nssv1549084,nssv1554554,nssv1550733 M 6533 0 4 "" MS12234,MS18053,MS18568,MS20857 dgv461n27 2 53383061 53405104 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457851,nsv457829,nsv457840 M 1557 0 3 "" HGDP00810,HGDP01318,HGDP01321 nsv470464 2 53383061 53405104 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547213,nssv547214,nssv547215 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01317,HGDP01318,HGDP01321 nsv820346 2 53411155 53413773 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420192 S 1 0 1 "" NA10851 nsv829421 2 53411305 53413773 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438653,nssv1424032,nssv1440200,nssv1422436,nssv1438011,nssv1429632,nssv1437185,nssv1432662,nssv1430416,nssv1433495,nssv1437290,nssv1431894 M 31 0 12 "" AK14,AK16,AK20,NA18526,NA18552,NA18564,NA18582,NA18592,NA18949,NA18951,NA18972,NA18973 esv2641357 2 53411367 53414523 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189647 S 1 0 1 "" NA18507 nsv829422 2 53411372 53412992 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421529,nssv1435716,nssv1426467,nssv1428096,nssv1424669,nssv1423203,nssv1427337,nssv1425575,nssv1440895,nssv1438274,nssv1431149,nssv1424807,nssv1439525,nssv1424185,nssv1428891 M 31 0 15 "" AK10,AK12,AK18,AK2,AK4,AK6,AK8,NA18537,NA18547,NA18566,NA18947,NA18968,NA18969,NA18997,NA18999 esv29596 2 53411428 53413564 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9933 S 451 19 6 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA19099,NA19114,NA19147,NA19240 nsv215113 2 53411588 53413281 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233691 M 24 "" esv2421909 2 53412341 53412983 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121856,essv5079578,essv5029162,essv5077122,essv5103167,essv5083576,essv5086080,essv5044024,essv5150022,essv5026674,essv5059526,essv5098008,essv5034288,essv5096484,essv5033112,essv5119336,essv5159728,essv5080409,essv5036936,essv5009962,essv5020325,essv5106338,essv5155509,essv5091920,essv5142874,essv5133273,essv5067416,essv5112202,essv5127128,essv5049876,essv5070652,essv5074773,essv5079322,essv5046253,essv5160646,essv5111349,essv5160532,essv5095461,essv5155602,essv5136051,essv5004822,essv5015736,essv5043146,essv5127044,essv5048060,essv5057730,essv5057725,essv5131849,essv5039680,essv5012798,essv5075461,essv5041322,essv5010281,essv5126444,essv5069541,essv5117523,essv5099518,essv5025388,essv5055769,essv5122100,essv5140600,essv5052301,essv5148779,essv5085756,essv5156018,essv5116363,essv5144739,essv5084756,essv5068826,essv5142151,essv5023278,essv5014164,essv5102136,essv5125219,essv5104994,essv5087291,essv5009239,essv5055571,essv5112642,essv5063444,essv5058332,essv5034748,essv5123670,essv5011385,essv5152456,essv5027572,essv5064500,essv5053822,essv5116353,essv5018433,essv5130424,essv5106160,essv5109791,essv5138814,essv5120126,essv5088329,essv5061443,essv5025882,essv5039301,essv5146525,essv5156400,essv5004631,essv5042090,essv5144892,essv5038827,essv5155227,essv5132245,essv5128780,essv5014102,essv5144367,essv5093407,essv5120040,essv5122533,essv5136092,essv5027544,essv5028160,essv5057987,essv5119905,essv5042007,essv5160863,essv5060956,essv5115778,essv5005035,essv5040798,essv5100207,essv5117908,essv5161058,essv5098906,essv5126848,essv5025549,essv5016420,essv5129169,essv5016161,essv5135134,essv5052711,essv5050101,essv5109652,essv5030706,essv5019959,essv5018022,essv5081981,essv5013619,essv5096606,essv5056473,essv5030611,essv5056594,essv5032249,essv5017171,essv5127393,essv5108309,essv5055433,essv5148775,essv5012355,essv5111675,essv5036182,essv5080732,essv5004463,essv5018659,essv5143501,essv5004554,essv5051529,essv5150981,essv5145292,essv5106100,essv5004257,essv5135094,essv5010054,essv5110463,essv5040961,essv5037002,essv5119731,essv5101340,essv5069779,essv5078993,essv5071510,essv5056558,essv5014432,essv5058307,essv5047686,essv5028751,essv5006121,essv5099277,essv5142882,essv5017552,essv5005400,essv5089499,essv5003259,essv5008061,essv5007228,essv5039498,essv5018934,essv5157476,essv5061467,essv5022611,essv5031331,essv5010126,essv5146365,essv5153347,essv5017640,essv5010629,essv5115717,essv5087259,essv5025929,essv5030752,essv5008471,essv5139185,essv5059705,essv5109347,essv5132689,essv5051232,essv5078822,essv5026980,essv5158673,essv5036445,essv5039063,essv5027907,essv5029965,essv5146748,essv5108506,essv5028935,essv5111259,essv5019097,essv5006849,essv5123529,essv5033658,essv5034078,essv5004384,essv5073678,essv5072263,essv5157458,essv5096408,essv5081495,essv5021888,essv5103022,essv5142246,essv5134675,essv5112537,essv5057497,essv5120337,essv5019147,essv5016899,essv5062407,essv5074958,essv5125562,essv5042258,essv5151395,essv5020379,essv5014094,essv5013070,essv5035296,essv5083403,essv5121325,essv5107346,essv5088875,essv5091800,essv5071239,essv5106494,essv5147332,essv5100523,essv5076451,essv5028389,essv5135038,essv5130710,essv5143344,essv5030686,essv5129266,essv5129296,essv5062424,essv5156465,essv5004220,essv5012142,essv5045469,essv5124333,essv5020579,essv5032224 M 1184 0 275 "" NA07022,NA07045,NA07435,NA10864,NA11839,NA11894,NA12003,NA12006,NA12056,NA12749,NA12751,NA12865,NA12874,NA12889,NA18485,NA18487,NA18489,NA18499,NA18500,NA18501,NA18504,NA18506,NA18507,NA18508,NA18509,NA18511,NA18552,NA18605,NA18852,NA18853,NA18855,NA18858,NA18862,NA18868,NA18869,NA18871,NA18872,NA18873,NA18874,NA18910,NA18912,NA18916,NA18917,NA18923,NA18930,NA18933,NA18935,NA19027,NA19028,NA19031,NA19035,NA19041,NA19044,NA19046,NA19093,NA19094,NA19099,NA19107,NA19108,NA19109,NA19123,NA19128,NA19129,NA19130,NA19132,NA19137,NA19140,NA19141,NA19142,NA19143,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19153,NA19154,NA19171,NA19173,NA19175,NA19176,NA19179,NA19180,NA19184,NA19185,NA19186,NA19190,NA19193,NA19194,NA19198,NA19201,NA19202,NA19203,NA19204,NA19206,NA19209,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19314,NA19316,NA19317,NA19319,NA19321,NA19324,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19375,NA19376,NA19379,NA19383,NA19384,NA19385,NA19391,NA19393,NA19394,NA19403,NA19428,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19449,NA19455,NA19457,NA19462,NA19463,NA19466,NA19470,NA19472,NA19474,NA19676,NA19677,NA19700,NA19704,NA19705,NA19713,NA19723,NA19724,NA19725,NA19834,NA19835,NA19836,NA19901,NA19909,NA19917,NA19919,NA19921,NA19985,NA20126,NA20129,NA20277,NA20281,NA20282,NA20284,NA20289,NA20290,NA20291,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20356,NA20357,NA20358,NA20363,NA20364,NA20528,NA20529,NA20772,NA20811,NA20815,NA20828,NA20883,NA21141,NA21295,NA21297,NA21356,NA21357,NA21359,NA21360,NA21361,NA21367,NA21382,NA21387,NA21388,NA21408,NA21414,NA21418,NA21440,NA21442,NA21447,NA21454,NA21455,NA21457,NA21473,NA21476,NA21485,NA21487,NA21488,NA21491,NA21509,NA21510,NA21513,NA21520,NA21526,NA21527,NA21573,NA21574,NA21577,NA21614,NA21615,NA21616,NA21620,NA21631,NA21632,NA21634,NA21636,NA21648,NA21650,NA21678,NA21682,NA21686,NA21689,NA21719,NA21733,NA21768,NA21826 esv2458894 2 53478629 53482246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278731 S 1 0 1 "" NA18507 esv2337956 2 53479071 53481692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936054 S 1 0 1 "" NA18507 nsv518692 2 53505415 53510372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696143 S 2026 0 1 "" esv29551 2 53524961 53541268 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20666,esv10691,esv15234 M 451 5 0 "" NA07045,NA12156,NA12828,NA19114,NA19190 nsv457862 2 53541234 53560407 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534969 S 1557 0 1 "" 1782681495_A nsv522771 2 53547123 53554828 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698412 S 2026 0 1 "" nsv457873 2 53554828 53638541 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534978 S 1557 1 0 "" 1798860279_A nsv457886 2 53576099 53688587 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534985 S 1557 0 1 "" 1780862212_A dgv4142n71 2 53626065 53740303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874147,nsv874145,nsv874146 M 6533 0 4 "" IS30276,IS30388,IS40487,IS41171 nsv527830 2 53638541 53720812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704326 S 2026 0 1 "" nsv2729 2 53652031 53685281 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5789 S 9 1 0 "" NA19129 esv2506138 2 53674633 53676128 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386155 S 1 0 1 "" NA18507 esv2209311 2 53674775 53675530 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689981 S 1 0 1 "" NA18507 nsv516185 2 53695586 53703886 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666924,nssv677130,nssv654447,nssv657591,nssv666900,nssv692081,nssv673791,nssv692380,nssv670479,nssv659073,nssv679471,nssv674310,nssv663264,nssv677242,nssv668556,nssv686717,nssv654429,nssv685846,nssv655590,nssv676084,nssv657278,nssv678144,nssv692547,nssv663481,nssv686250,nssv688997,nssv691483,nssv672868,nssv663217,nssv664655,nssv672319,nssv670654,nssv656974,nssv673873,nssv687295,nssv652597,nssv680267,nssv655733,nssv659401,nssv675229,nssv666348,nssv670371,nssv680150,nssv684935,nssv665535,nssv693411,nssv671942,nssv691909,nssv665043,nssv675795,nssv685296,nssv676933,nssv686555,nssv657321,nssv663703,nssv667066,nssv652627,nssv655692,nssv665969,nssv701772,nssv680915,nssv660737,nssv666002,nssv661325,nssv681782,nssv661629,nssv667976,nssv665496,nssv661070 M 2026 0 69 "" esv23896 2 53697335 53700161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21072 S 451 0 3 "" NA18508,NA18511,NA18916 esv2421717 2 53698406 53700051 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5082028,essv5156255,essv5039230,essv5042280,essv5140560,essv5066998,essv5095188,essv5111969,essv5156320,essv5031844,essv5014901,essv5122457,essv5031226,essv5056957,essv5022350,essv5045748,essv5092897,essv5014876,essv5148685,essv5008853,essv5072382,essv5080021,essv5147437,essv5052657,essv5120503,essv5066309,essv5139377,essv5135314,essv5096260,essv5090551,essv5077244,essv5056396,essv5044811,essv5121357,essv5151544,essv5132015,essv5047872,essv5153259,essv5020699,essv5005304,essv5063901,essv5048649,essv5120382,essv5074266,essv5078155,essv5050153,essv5160796 M 1184 0 47 "" NA18485,NA18487,NA18499,NA18506,NA18508,NA18509,NA18511,NA18916,NA18930,NA18934,NA18935,NA19046,NA19122,NA19123,NA19137,NA19139,NA19140,NA19142,NA19149,NA19150,NA19151,NA19172,NA19201,NA19202,NA19209,NA19211,NA19235,NA19237,NA19247,NA19249,NA19308,NA19324,NA19347,NA19373,NA19374,NA19404,NA19719,NA20290,NA20291,NA20292,NA20356,NA21473,NA21526,NA21527,NA21620,NA21719,NA21825 nsv817928 2 53698406 53700051 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416908,nssv1418514,nssv1416907,nssv1416535,nssv1418525 M 112 0 5 "" NA19137,NA19139,NA19140,NA19142,NA19172 nsv834058 2 53754178 53925515 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441914,nssv1441913,nssv1441911,nssv1441912 M 95 1 3 ASB3,CHAC2,ERLEC1,GPR75-ASB3 nsv2730 2 53807185 53841533 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3019 S 9 1 0 ASB3,GPR75-ASB3 NA18555 esv2484606 2 53965667 53967098 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308288 S 1 0 1 PSME4 NA18507 nsv829423 2 54031351 54034556 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438654 S 31 0 1 PSME4 NA18973 esv259920 2 54097637 54097970 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395606,essv2397907,essv2398241,essv2395220 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18907,NA18909,NA19108 esv23028 2 54196467 54197032 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11442 S 451 0 1 ACYP2 NA18508 dgv4143n71 2 54197829 54285726 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874148,nsv874149 M 6533 0 2 ACYP2 IS37820,SP51158 nsv525086 2 54285726 54312715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701144 S 2026 0 1 ACYP2 nsv457897 2 54312597 54356416 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv534995 S 1557 1 0 ACYP2,TSPYL6 NINDS_102 esv27584 2 54366555 54371160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14065 S 451 0 1 ACYP2 NA19257 nsv507013 2 54375939 54381939 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620717,nssv617563,nssv623336 M 4 3 0 ACYP2 CHM,NA15510,NA18994 esv2318898 2 54377641 54378145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709152 S 1 0 1 ACYP2 NA18507 esv8414 2 54393496 54393558 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30855 S 1 1 0 "" SJK nsv511174 2 54415573 54421094 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626266 S 1 0 1 C2orf73 1 nsv436294 2 54416100 54421763 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465901 S 2 0 1 Samples from several populations that are part of the HapMap project. C2orf73 NA18505 esv2604967 2 54418380 54421066 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365295 S 1 0 1 C2orf73 NA18507 esv2535207 2 54418423 54421645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198635 S 1 0 1 C2orf73 NA18507 nsv511786 2 54418678 54421118 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626436 S 1 0 1 C2orf73 1 esv2276399 2 54418824 54421157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544842 S 1 0 1 C2orf73 NA18507 nsv820112 2 54418848 54421090 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419407 S 2 1 0 C2orf73 AK1 esv5301 2 54418949 54421025 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27742 S 1 0 1 Single Asian sample YH C2orf73 YH dgv631n67 2 54418950 54420976 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829428,nsv829424,nsv829427,nsv829429 M 31 0 22 C2orf73 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18592,NA18942,NA18951,NA18968,NA18969,NA18973,NA18997 nsv821415 2 54418950 54420976 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420203 S 1 0 1 C2orf73 NA10851 esv1008998 2 54418997 54421528 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565415 S 3 0 1 C2orf73 HuRef esv5705 2 54419008 54420976 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28146 S 1 0 1 C2orf73 SJK esv23352 2 54419132 54420976 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13307,esv18437 M 451 22 0 C2orf73 NA06985,NA07037,NA11995,NA12004,NA12156,NA12239,NA12287,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 esv22662 2 54447326 54448997 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10136 S 451 0 1 "" NA19114 esv1949171 2 54512134 54512540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697793 S 1 0 1 "" NA18507 esv2556254 2 54526763 54527728 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214202 S 1 1 0 "" NA18507 esv272666 2 54527063 54527419 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580295,essv2580627 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238 esv271117 2 54527069 54527411 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558008,essv2575829,essv2571682,essv2521379,essv2545543,essv2577238,essv2548311,essv2521551,essv2525232,essv2535311,essv2544241,essv2547275,essv2529193,essv2578009,essv2520944,essv2557390,essv2557217,essv2551869,essv2532295,essv2562751,essv2569331,essv2578818,essv2537120,essv2539009,essv2569859,essv2561435,essv2544719,essv2524675,essv2534600,essv2561098,essv2539652,essv2549506,essv2566064,essv2531204,essv2528769,essv2567469,essv2570103,essv2553145,essv2572364,essv2542126,essv2568879,essv2543634,essv2556258,essv2528037,essv2578147,essv2533574,essv2555634,essv2557759,essv2529529,essv2575692,essv2575213,essv2526357,essv2523950,essv2574634,essv2568531,essv2549885,essv2545798,essv2551533,essv2532947,essv2547873,essv2563467 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA10847,NA10851,NA11830,NA11840,NA11894,NA12003,NA12043,NA12045,NA12144,NA12156,NA12249,NA12414,NA12717,NA12749,NA12761,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18523,NA18526,NA18555,NA18561,NA18562,NA18563,NA18564,NA18572,NA18573,NA18579,NA18582,NA18593,NA18605,NA18609,NA18856,NA18861,NA18870,NA18871,NA18907,NA18940,NA18944,NA18945,NA18953,NA19093,NA19099,NA19102,NA19114,NA19129,NA19138,NA19147,NA19225,NA19239,NA19257 dgv4144n71 2 54538061 54614833 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874150,nsv874151 M 6533 0 6 RPL23AP32,SPTBN1 IS30532,IS31044,IS31679,IS33580,IS33665,IS35742 esv2503095 2 54546243 54547824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298663 S 1 0 1 SPTBN1 NA18507 nsv438348 2 54546708 54567570 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471000 S 269 0 1 Samples from several populations that are part of the HapMap project. SPTBN1 NA19192 nsv817939 2 54546708 54571685 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418431 S 112 1 0 SPTBN1 NA19192 esv2263133 2 54546786 54547452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592659 S 1 0 1 SPTBN1 NA18507 esv3076 2 54546946 54547307 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25517 S 1 0 1 Single Asian sample YH SPTBN1 YH nsv214368 2 54546983 54547246 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232946 M 24 SPTBN1 esv987979 2 54546984 54547247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580063 S 3 0 1 SPTBN1 HuRef esv1689528 2 54546993 54547257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726029 S 2 0 1 SPTBN1 HuRef nsv518406 2 54576775 54614833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695837 S 2026 0 1 RPL23AP32,SPTBN1 nsv2731 2 54598573 54643561 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7497 S 9 0 1 RPL23AP32,SPTBN1 NA12156 nsv528848 2 54611809 54631080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705527 S 2026 0 1 SPTBN1 esv33638 2 54618760 54962959 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96327 S 51 0 1 EML6,SPTBN1 22371 nsv2733 2 54687642 54720478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4416 S 9 1 0 SPTBN1 NA12878 esv2622685 2 54807439 54808921 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309002 S 1 0 1 EML6 NA18507 esv2131560 2 54807630 54808242 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585068 S 1 0 1 EML6 NA18507 esv2600788 2 54807813 54808046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318425 S 1 0 1 EML6 NA18507 dgv462n27 2 54863619 54884527 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv457919,nsv457908 M 1557 2 0 EML6 HGDP00558,HGDP00574 nsv470465 2 54863619 54887617 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547216,nssv547217 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EML6 HGDP00558,HGDP00574 nsv874152 2 54877104 54913983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539552 S 6533 1 0 EML6 MS14359 nsv874153 2 54895967 54926932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554735 S 6533 0 1 EML6 MS20957 nsv525624 2 54916617 54919814 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701773 S 2026 1 0 EML6 nsv874154 2 54916617 54938087 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533055 S 6533 1 0 EML6 MS10999 nsv519306 2 54917636 54919814 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655285,nssv683804 M 2026 2 0 EML6 nsv2734 2 54918035 54952667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1494 S 9 1 0 EML6 NA19240 nsv457930 2 54926932 54944533 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535020 S 1557 0 1 EML6 1780862410_A nsv519246 2 54932916 54934127 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696738 S 2026 1 0 EML6 nsv528980 2 54932916 54934127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705679 S 2026 0 1 EML6 nsv834069 2 54950101 55105184 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441915,nssv1441916 M 95 0 2 EML6,RTN4 esv270791 2 54970074 54970402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575858,essv2546383,essv2526242,essv2536469,essv2523000,essv2543985,essv2568094,essv2545387,essv2523465,essv2531719,essv2577536,essv2570466,essv2548377,essv2521704,essv2550766,essv2525496,essv2550460,essv2553930,essv2552005,essv2547440,essv2558346,essv2564445,essv2577855,essv2553743,essv2559712,essv2565436,essv2576374,essv2555139,essv2530806,essv2528560,essv2520855,essv2557312,essv2556938,essv2569458,essv2550106,essv2537106,essv2538958,essv2527266,essv2561335,essv2544905,essv2541312,essv2559136,essv2550873,essv2569081,essv2527743,essv2534075,essv2578145,essv2529933,essv2529772,essv2575393,essv2524000,essv2572906,essv2568556,essv2571289,essv2545713,essv2574321,essv2551538,essv2536204,essv2538066,essv2548763,essv2525173,essv2563505 M 157 62 0 Samples from several populations that are part of the HapMap project. EML6 NA06986,NA07000,NA07037,NA07357,NA10847,NA11830,NA11881,NA11918,NA11920,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12234,NA12287,NA12489,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12872,NA12873,NA12891,NA18498,NA18499,NA18501,NA18508,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18545,NA18638,NA18858,NA18861,NA18907,NA18916,NA18940,NA18949,NA19093,NA19099,NA19129,NA19143,NA19147,NA19238,NA19239,NA19240,NA19257 esv272710 2 54970074 54970402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582644,essv2584159,essv2584867,essv2583608 M 7 4 0 Samples from several populations that are part of the HapMap project. EML6 NA12891,NA19238,NA19239,NA19240 nsv7312 2 54983268 55015019 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1495 S 9 0 0 EML6 NA19240 nsv2735 2 55017004 55051072 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7498 S 9 1 0 EML6 NA12156 nsv508838 2 55018488 55035242 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621166,nssv619901 M 4 2 0 EML6 NA10860,NA15510 esv2337133 2 55036706 55037144 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729706 S 1 0 1 EML6 NA18507 nsv874155 2 55058766 55161150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592534 S 6533 0 1 RTN4 IS39243 esv267485 2 55073026 55073111 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517159 S 157 1 0 Samples from several populations that are part of the HapMap project. RTN4 hapmap_pooled_sample_set esv2517082 2 55114955 55116518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239878 S 1 0 1 RTN4 NA18507 esv2474783 2 55119040 55120334 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234262 S 1 0 1 RTN4 NA18507 esv28422 2 55177345 55190278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9883 S 451 0 1 "" NA19108 esv2421886 2 55177792 55188549 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015153,essv5031691,essv5018434,essv5002937,essv5101914,essv5109612,essv5082026,essv5122816,essv5111491,essv5121660,essv5137959,essv5018365,essv5144534,essv5129667,essv5045393,essv5074169,essv5061266,essv5010422,essv5073604,essv5019330,essv5129461,essv5006734 M 1184 0 22 "" NA19108,NA19122,NA19141,NA19142,NA19390,NA20289,NA20290,NA20340,NA20341,NA20512,NA20539,NA20541,NA21364,NA21414,NA21513,NA21514,NA21631,NA21632,NA21635,NA21636,NA21719,NA21784 nsv517331 2 55178464 55188549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666349,nssv698741,nssv690451,nssv654403,nssv680306,nssv651745,nssv673903,nssv674311 M 2026 0 8 "" nsv817951 2 55178464 55188549 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418536,nssv1415562 M 112 0 2 "" NA19141,NA19142 nsv438350 2 55180595 55186739 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471003,nssv471001 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19141,NA19142 nsv522772 2 55200976 55203230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698413 S 2026 0 1 "" nsv522016 2 55258298 55413802 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694785 S 2026 1 0 C2orf63,CCDC88A,MIR4426,MTIF2,PRORSD1P,RPS27A nsv874156 2 55327530 55489855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590117,nssv1556547 M 6533 0 2 CCDC88A,MTIF2,PRORSD1P IS38463,MS22104 nsv525025 2 55336524 55358960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701065 S 2026 0 1 MTIF2 nsv874157 2 55336524 55424589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568525 S 6533 0 1 CCDC88A,MTIF2,PRORSD1P IS31302 dgv4145n71 2 55367242 55489855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874159,nsv874158 M 6533 0 2 CCDC88A IS31335,IS36656 nsv457941 2 55370995 55439419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535031 S 1557 0 1 CCDC88A NINDS_145 esv1574765 2 55378000 55378000 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036246 S 2 1 0 CCDC88A HuRef esv1672727 2 55465231 55465231 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147026 S 2 1 0 CCDC88A HuRef nsv524437 2 55468870 55473427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700367 S 2026 0 1 CCDC88A esv275364 2 55475236 55485737 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585432 S 1250 0 1 CCDC88A nsv520581 2 55476329 55756520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697502 S 2026 0 1 CCDC104,CCDC88A,PNPT1,SMEK2 nsv874160 2 55566606 55682478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568727,nssv1583762,nssv1565921,nssv1568242 M 6533 0 4 CCDC104,SMEK2 IS30539,IS31225,IS31335,IS36656 nsv521318 2 55570154 55590208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697925 S 2026 0 1 "" nsv525434 2 55570154 55695144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701562 S 2026 0 1 CCDC104,SMEK2 nsv834080 2 55594540 55781432 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441917 S 95 0 1 CCDC104,PNPT1,SMEK2 dgv1185e1 2 55600743 55834578 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12154,essv11523,esv372,essv13853 M 271 0 0 CCDC104,PNPT1,SMEK2 NA18854,NA19101,NA19173 nsv829430 2 55697193 55697885 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423204 S 31 0 1 SMEK2 NA18999 nsv9791 2 55726229 55737255 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25711 S 31 1 0 Samples from several populations that are part of the HapMap project. PNPT1 NA18552 nsv9802 2 55763758 55792757 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28917,nssv24896,nssv28359,nssv28107 M 31 4 0 Samples from several populations that are part of the HapMap project. PNPT1 NA18853,NA19132,NA19173,NA19221 esv22582 2 55764352 55792250 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16137 S 451 1 0 PNPT1 NA19225 nsv442740 2 55768294 55792083 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PNPT1 nsv514069 2 55768456 55791620 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628347 S 1414 1 0 PNPT1 esv2510458 2 55936319 55937913 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375477 S 1 0 1 "" NA18507 esv2296549 2 55936851 55937551 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881005 S 1 0 1 "" NA18507 esv3738 2 55936977 55937482 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26179 S 1 0 1 Single Asian sample YH "" YH esv5753 2 55937047 55937359 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28194 S 1 0 1 "" SJK esv272064 2 55954598 55954958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504172,essv2501198,essv2508265,essv2499888,essv2500646,essv2507618,essv2507097,essv2495972 M 157 8 0 Samples from several populations that are part of the HapMap project. EFEMP1 NA18505,NA18516,NA18561,NA18562,NA18571,NA18576,NA18870,NA18961 nsv2736 2 55964073 55997651 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1496 S 9 1 0 EFEMP1 NA19240 nsv819764 2 55998673 55998858 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419070 S 2 0 1 EFEMP1 AK1 nsv519184 2 56007820 56017408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696668 S 2026 0 1 "" nsv874161 2 56007820 56057302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586228,nssv1584411 M 6533 0 2 "" IS36990,IS37698 esv273417 2 56019169 56019280 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578904 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 dgv1186e1 2 56031943 56325898 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5309,esv426 M 271 0 0 CCDC85A,MIR216A,MIR216B,MIR217 NA18563 esv33163 2 56053286 56057349 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97460 S 51 0 1 "" 21616 nsv520175 2 56081855 56184879 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697263 S 2026 1 0 "" nsv9813 2 56091005 56097105 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28977 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv874162 2 56109336 56334075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587880 S 6533 1 0 CCDC85A IS38128 esv34703 2 56126453 56235685 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990372,essv6979497,essv6979498,essv6979499 M 771 1 0 "" NA18563 dgv4146n71 2 56133932 56224383 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874163,nsv874166 M 6533 2 0 "" IS30967,SP81073 nsv874164 2 56133932 56242250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528208 S 6533 0 1 "" SP81158 dgv4147n71 2 56133932 56247422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874165,nsv874167 M 6533 3 0 "" IS34055,IS34422,SP50017 nsv9824 2 56135680 56245587 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27404,nssv28093 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18504,NA18563 nsv457952 2 56146387 56242250 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535042 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01100 nsv441758 2 56178950 56181532 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv874168 2 56216881 56247422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580506 S 6533 0 1 "" IS35349 esv272142 2 56227002 56227341 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558058,essv2541075,essv2546420,essv2542296,essv2536677,essv2570899,essv2548567,essv2576741,essv2520307,essv2564029,essv2561769,essv2550169,essv2523917,essv2553026,essv2541354,essv2538263,essv2542855,essv2540598,essv2534519,essv2539674,essv2549167,essv2519503,essv2522146,essv2530921,essv2532475,essv2567358,essv2563831,essv2553353,essv2535608,essv2559375,essv2578445,essv2573259,essv2533719,essv2555482,essv2557729,essv2556050,essv2534453,essv2522575,essv2543210,essv2571892,essv2526747,essv2529577,essv2526400,essv2551397,essv2536192,essv2549093,essv2548014,essv2524833,essv2563451 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA07357,NA10847,NA10851,NA11831,NA11881,NA11919,NA11920,NA11993,NA12045,NA12154,NA12716,NA12828,NA12874,NA18511,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18561,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18582,NA18603,NA18605,NA18608,NA18638,NA18940,NA18942,NA18944,NA18945,NA18953,NA18956,NA18959,NA18960,NA18965,NA18973,NA19005,NA19093,NA19114,NA19257 nsv874169 2 56237266 56326984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524681 S 6533 0 1 CCDC85A SP55165 nsv829431 2 56273184 56273939 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429634 S 31 1 0 CCDC85A AK14 esv2211763 2 56345854 56346320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860224 S 1 0 1 CCDC85A NA18507 nsv522006 2 56350093 56399349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694776 S 2026 0 1 CCDC85A nsv874170 2 56350093 56444369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587881 S 6533 1 0 CCDC85A IS38128 nsv834093 2 56391601 56562181 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441919 S 95 1 0 CCDC85A nsv874171 2 56399349 56580682 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573657 S 6533 1 0 CCDC85A IS33475 nsv522944 2 56457489 56530501 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698609 S 2026 1 0 CCDC85A nsv874172 2 56492360 56665253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536624 S 6533 0 1 "" MS12863 nsv2737 2 56495456 56517903 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2262 S 9 0 1 "" NA18555 nsv9835 2 56498412 56509581 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28016,nssv24886,nssv26710,nssv25966,nssv28408,nssv29007,nssv28084,nssv24887,nssv27943,nssv26547,nssv28157,nssv26184,nssv24005,nssv26550,nssv25700,nssv27516,nssv28743,nssv24586,nssv28248,nssv25176,nssv26380,nssv27279 M 31 22 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA11830,NA12740,NA12802,NA12872,NA18502,NA18517,NA18563,NA18564,NA18572,NA18853,NA18860,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv511191 2 56499999 56510398 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626454 S 1 0 1 "" 1 esv25284 2 56502904 56509204 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14597,esv10470,esv14541 M 451 34 0 "" NA06985,NA07045,NA11894,NA11931,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820307 2 56504128 56509197 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419682 S 2 1 0 "" AK1 nsv511787 2 56504349 56509589 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626437 S 1 0 1 "" 1 nsv821072 2 56505468 56509204 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420215 S 1 0 1 "" NA10851 nsv829432 2 56505468 56509204 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427339,nssv1424033,nssv1434931,nssv1422437,nssv1438013,nssv1421533,nssv1437407,nssv1424208,nssv1423205,nssv1439527,nssv1433497 M 31 0 11 "" AK8,NA18526,NA18537,NA18552,NA18582,NA18592,NA18942,NA18951,NA18968,NA18997,NA18999 nsv498922 2 56505809 56509399 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585783 S 9 0 1 "" nsv829433 2 56507665 56509079 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426469,nssv1438656,nssv1431152,nssv1435719,nssv1440202,nssv1425576,nssv1429635,nssv1424810,nssv1434250,nssv1428893,nssv1437291 M 31 0 11 "" AK12,AK14,AK18,AK2,AK4,AK6,NA18564,NA18566,NA18570,NA18949,NA18973 dgv80e180 2 56507665 56509204 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994152,esv1005068 M 3 1 0 "" HuRef nsv514070 2 56507864 56508920 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628358 S 1414 0 1 "" dgv1187e1 2 56513189 56704702 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5904,esv706 M 271 0 0 "" NA18550 dgv4148n71 2 56555999 56615502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874173,nsv874174 M 6533 0 2 "" SP54286,SP56215 essv7905 2 56560176 56603713 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 essv7983 2 56560176 56624393 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv528401 2 56560262 56565930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704991 S 2026 0 1 "" nsv517645 2 56565930 56607983 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652660,nssv663856,nssv670246,nssv687296,nssv660374,nssv693242,nssv681801 M 2026 5 2 "" nsv9846 2 56573394 56605462 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28026 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv21771 2 56573963 56602026 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14802 S 451 1 0 "" NA19240 nsv433352 2 56575511 56600135 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463233 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv817962 2 56575511 56600135 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416829,nssv1416830 M 112 2 0 "" NA19239,NA19240 dgv4149n71 2 56585470 56692643 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874178,nsv874176,nsv874177,nsv874175 M 6533 0 13 "" IS31326,MS10187,MS12286,MS12630,MS13088,MS17335,MS19301,MS23775,MS24867,MS24918,MS25890,SP50663,SP57238 esv34748 2 56587367 56603713 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980641,essv6980642 M 771 1 0 "" NA19239 nsv2738 2 56592634 56594487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1497 S 9 1 0 "" NA19240 essv5691 2 56595120 56664794 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18550 esv35146 2 56595253 56664794 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979418,essv6979416,essv6988169,essv6979417 M 771 0 1 "" NA18550 nsv817973 2 56596939 56671431 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417177 S 112 0 1 "" NA18550 nsv829434 2 56665647 56668504 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430420 S 31 1 0 "" AK16 dgv4150n71 2 56671431 56810970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874180,nsv874179 M 6533 0 2 "" IS41895,MS13252 esv2172786 2 56697957 56698279 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512429 S 1 0 1 "" NA18507 esv2019409 2 56703442 56704097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818314 S 1 0 1 "" NA18507 esv5927 2 56703619 56703944 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28368 S 1 0 1 "" SJK esv268946 2 56726329 56726491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510963,essv2499468,essv2507723,essv2503936 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11831,NA12044,NA12751 esv268936 2 56825160 56825245 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518975 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv523495 2 56846894 56863813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699264 S 2026 0 1 "" nsv515537 2 56861562 56863813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674237,nssv687004,nssv673482,nssv682961,nssv657111,nssv663857 M 2026 0 6 "" nsv2739 2 56883368 56908872 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4417 S 9 1 0 "" NA12878 nsv457963 2 56913635 57250927 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535049 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00645 nsv470466 2 56916017 57250927 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547218 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00645 nsv457974 2 56967660 57028591 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535058 S 1557 0 1 "" 1798860071_A nsv834104 2 57005115 57149831 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441921,nssv1441920 M 95 2 0 "" nsv2740 2 57045504 57080660 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1498 S 9 1 0 "" NA19240 nsv525507 2 57074730 57078134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701639 S 2026 0 1 "" nsv874181 2 57079135 57126215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509447 S 6533 0 1 "" SP54792 esv28459 2 57095735 57096912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15939 S 451 0 1 "" NA19190 esv274022 2 57101430 57101776 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581630,essv2581134 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv270893 2 57101435 57101771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525975,essv2536576,essv2543971,essv2556729,essv2568404,essv2531918,essv2577544,essv2521835,essv2576616,essv2535184,essv2520499,essv2547554,essv2553569,essv2576243,essv2530555,essv2537584,essv2539952,essv2569306,essv2558953,essv2539048,essv2527334,essv2544681,essv2523849,essv2542967,essv2534814,essv2539897,essv2559793,essv2522116,essv2531131,essv2532518,essv2528701,essv2567466,essv2569941,essv2535599,essv2572504,essv2559330,essv2550919,essv2543407,essv2556192,essv2562361,essv2573792,essv2557762,essv2555965,essv2522408,essv2531611,essv2573642,essv2543381,essv2529781,essv2575671,essv2574441,essv2551372,essv2537839 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11918,NA11920,NA11992,NA11994,NA11995,NA12006,NA12043,NA12144,NA12154,NA12249,NA12716,NA12717,NA12763,NA12814,NA12873,NA12878,NA18489,NA18508,NA18516,NA18519,NA18522,NA18526,NA18537,NA18550,NA18561,NA18563,NA18570,NA18571,NA18573,NA18576,NA18579,NA18582,NA18593,NA18608,NA18609,NA18638,NA18858,NA18870,NA18871,NA18909,NA18951,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA19093,NA19099,NA19240,NA19257 esv997827 2 57130039 57132704 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565145 S 3 1 0 "" HuRef dgv1188e1 2 57138035 57341900 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv824,essv17838 M 271 0 0 "" NA10831 dgv4151n71 2 57158117 57359948 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874183,nsv874182 M 6533 0 4 "" MS22008,MS24077,MS24219,MS25193 nsv9857 2 57158599 57172009 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28820 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv528800 2 57194952 57199075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705474 S 2026 0 1 "" esv2480620 2 57195578 57197170 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312448 S 1 0 1 "" NA18507 esv2348683 2 57196045 57196764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860724 S 1 0 1 "" NA18507 esv4618 2 57196175 57196639 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27059 S 1 0 1 Single Asian sample YH "" YH esv5638 2 57196245 57196557 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28079 S 1 0 1 "" SJK esv1605815 2 57196247 57196574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206445 S 2 0 1 "" HuRef nsv214005 2 57196248 57196574 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232583 M 24 "" dgv1189e1 2 57235943 57295315 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23155,essv21594 M 271 0 0 "" NA10831,NA12155 dgv150e55 2 57241283 57303753 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35165,esv2751898,esv2751899 M 771 3 0 "" BEC_298,NA10831,SPC_184 esv34506 2 57241283 57519133 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978714,essv6978715,essv6990275 M 771 1 0 "" NA12155 esv993913 2 57248209 57248209 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576039 S 3 1 0 "" HuRef esv1058469 2 57248228 57248228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314890 S 2 1 0 "" HuRef nsv214453 2 57248264 57248264 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233031 M 24 "" nsv517515 2 57249768 57319043 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665014,nssv691556,nssv683950,nssv655883,nssv652248,nssv679954,nssv665917,nssv678493,nssv678460,nssv670392,nssv653119,nssv661655,nssv682085,nssv654389,nssv670008,nssv689094,nssv688086,nssv678437,nssv693466,nssv679699,nssv655366,nssv679360,nssv678554,nssv663985,nssv686465,nssv664612 M 2026 26 0 "" nsv874184 2 57251528 57319043 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599524,nssv1569400,nssv1576866 M 6533 3 0 "" IS31570,IS34289,IS41655 nsv9868 2 57252167 57302006 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28238 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12155 nsv438351 2 57261153 57268856 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471004,nssv471005 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10831,NA12155 nsv213757 2 57271521 57271730 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232335 M 24 "" esv1704668 2 57271882 57271882 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599513 S 2 1 0 "" HuRef esv1507830 2 57273195 57273958 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703489 S 2 0 1 "" HuRef nsv457985 2 57287616 58630673 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535065 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FANCL,FLJ30838,VRK2 HGDP00817 dgv4152n71 2 57299713 57556971 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874186,nsv874187,nsv874185 M 6533 0 6 "" IS33829,IS34083,IS35972,IS37226,IS38704,IS39718 esv270091 2 57304527 57304869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571613,essv2525899,essv2542491,essv2536429,essv2544019,essv2576662,essv2550384,essv2551960,essv2558683,essv2553624,essv2554949,essv2561752,essv2524752,essv2534903,essv2522192,essv2541497,essv2572515,essv2555463,essv2522490 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA11919,NA11920,NA11992,NA12154,NA12234,NA12489,NA12750,NA12763,NA12872,NA12874,NA18555,NA18561,NA18571,NA18592,NA18609,NA18943,NA18960 nsv508839 2 57307800 57317162 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623866,nssv618003,nssv619902,nssv621167 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv834115 2 57327817 57482763 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441922 S 95 0 1 "" nsv2741 2 57371788 57379530 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1499 S 9 1 0 "" NA19240 nsv834126 2 57372159 57554519 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441923 S 95 1 0 "" dgv4153n71 2 57400618 57525195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874188,nsv874189 M 6533 0 2 "" IS30041,IS32150 nsv515624 2 57403143 57405591 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674413,nssv676110,nssv669972,nssv664144,nssv667405,nssv689707 M 2026 0 6 "" dgv4154n71 2 57430538 57525195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874190,nsv874192,nsv874191 M 6533 0 4 "" IS31373,IS35100,IS35229,IS39248 nsv457997 2 57460953 57528084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535074 S 1557 0 1 "" 1780854219_A nsv525779 2 57460953 57539393 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701954 S 2026 1 0 "" nsv526359 2 57470469 57556971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702652 S 2026 0 1 "" dgv463n27 2 57480496 57528084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458008,nsv458019 M 1557 0 2 "" 1780862001_A,1780862042_A esv275012 2 57535041 57543510 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585304,essv2585606 M 1250 1 1 "" nsv834137 2 57537153 57767402 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441924 S 95 1 0 "" nsv526505 2 57591986 57592227 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702815 S 2026 1 0 "" nsv528195 2 57591986 57592227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704752 S 2026 0 1 "" nsv524338 2 57591986 57597823 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700245 S 2026 1 0 "" nsv874193 2 57612112 57920177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504798 S 6533 1 0 "" SP52732 nsv829435 2 57638022 57652895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434251 S 31 0 1 "" NA18570 nsv874194 2 57647176 57750260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574994,nssv1600461 M 6533 0 2 "" IS33684,IS41888 nsv874195 2 57662175 57708845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597629 S 6533 0 1 "" IS41224 nsv527499 2 57695579 57698520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703949 S 2026 0 1 "" nsv817984 2 57695579 57698520 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415783,nssv1415672 M 112 0 2 "" NA06985,NA06991 esv28521 2 57695732 57703404 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20355 S 451 0 1 "" NA06985 nsv874196 2 57799652 58073824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597638 S 6533 0 1 "" IS41113 esv268691 2 57830764 57831068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510525,essv2494356,essv2509701,essv2494720,essv2509460 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18508,NA18519,NA19129 dgv4155n71 2 57832362 57922245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874197,nsv874198 M 6533 0 2 "" IS35181,MS13154 nsv834148 2 57833165 57972717 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441925,nssv1441926,nssv1441927 M 95 1 2 "" nsv458030 2 57866337 57915724 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535093 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00092 nsv874199 2 57884753 58015024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564848 S 6533 0 1 "" IS30311 nsv508840 2 57902220 57920242 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619903,nssv623867,nssv618004,nssv621168 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1002730 2 57912394 57913570 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564800 S 3 1 0 "" HuRef esv1673407 2 57913572 57913572 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887099 S 2 1 0 "" HuRef nsv508089 2 57951875 57957875 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622343 S 4 0 1 "" NA10860 nsv834159 2 57954766 58137159 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441930,nssv1441928 M 95 2 0 VRK2 esv268013 2 57984001 57984086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515462 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv525988 2 58015024 58281290 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702210 S 2026 1 0 FANCL,VRK2 nsv874200 2 58016682 58115520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570476 S 6533 0 1 "" IS32150 nsv458041 2 58049614 58091228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535098 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 esv2596143 2 58057176 58060518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255823 S 1 0 1 "" NA18507 esv2230992 2 58057962 58060448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951042 S 1 0 1 "" NA18507 esv21948 2 58058163 58060273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21326 S 451 0 3 "" NA18916,NA19099,NA19225 dgv4156n71 2 58123375 58229192 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874202,nsv874201 M 6533 0 2 VRK2 IS30976,IS38390 nsv527551 2 58165188 58170712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704012 S 2026 0 1 VRK2 esv1774125 2 58217867 58217867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886927 S 2 1 0 VRK2 HuRef nsv458052 2 58242200 58304073 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535106 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FANCL HGDP00529 nsv817995 2 58244042 58304073 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418432 S 112 0 1 FANCL NA19193 nsv874203 2 58550500 58673921 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583878 S 6533 0 1 FLJ30838 IS36722 esv2073029 2 58640421 58640891 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553281 S 1 0 1 FLJ30838 NA18507 nsv9880 2 58676718 58679112 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28143,nssv27626,nssv25456,nssv25955 M 31 0 4 Samples from several populations that are part of the HapMap project. FLJ30838 NA18504,NA18537,NA18563,NA18853 nsv9891 2 58804601 58807361 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28101 S 31 0 1 Samples from several populations that are part of the HapMap project. FLJ30838 NA18860 nsv528866 2 58809457 58828647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705546 S 2026 0 1 FLJ30838 nsv518430 2 58812032 58812616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695865 S 2026 0 1 FLJ30838 esv2507387 2 58854181 58855572 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377888 S 1 0 1 FLJ30838 NA18507 nsv523925 2 59061109 59067082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699770 S 2026 0 1 FLJ30838 esv268941 2 59067197 59067502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494196,essv2494791,essv2500953,essv2501361,essv2499098,essv2498672 M 157 6 0 Samples from several populations that are part of the HapMap project. FLJ30838 NA18502,NA18519,NA18856,NA19093,NA19114,NA19138 nsv874204 2 59075443 59136095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583127 S 6533 0 1 FLJ30838 IS36273 nsv2742 2 59107839 59112599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9569 S 9 1 0 FLJ30838 NA18507 nsv874205 2 59161605 59310127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567912 S 6533 0 1 "" IS31172 esv2444499 2 59166112 59167033 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188023 S 1 1 0 "" NA18507 esv1008926 2 59166699 59166699 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566737 S 3 1 0 "" HuRef esv1252181 2 59166708 59166708 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127151 S 2 1 0 "" HuRef nsv834170 2 59290180 59458298 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441931 S 95 0 1 "" esv32749 2 59358450 59362627 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94770 S 51 1 0 "" 21791 nsv829436 2 59406587 59407068 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440898 S 31 1 0 "" NA18969 nsv2745 2 59461320 59490651 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10212 S 9 0 1 "" NA18956 nsv874206 2 59470328 59548253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580713 S 6533 0 1 "" IS35439 nsv829438 2 59476727 59478003 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440899,nssv1436421 M 31 0 2 "" NA18542,NA18969 nsv498923 2 59476760 59484553 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585784 S 9 0 1 "" esv28048 2 59476800 59484511 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10456 S 451 0 2 "" NA11931,NA12878 nsv514071 2 59476852 59477864 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628369 S 1414 0 1 "" nsv438352 2 59477092 59479126 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471006,nssv471008,nssv471007 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18542,NA18561,NA18621 esv2421749 2 59477152 59480656 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079475,essv5123509,essv5112273,essv5092906,essv5099773,essv5109234,essv5071191,essv5007863,essv5080000,essv5079555,essv5128201,essv5153691,essv5072262,essv5046974,essv5136201,essv5113359,essv5052937,essv5110048,essv5118353,essv5022834,essv5028027,essv5160701,essv5139075,essv5101399,essv5059005,essv5029822,essv5149243,essv5075782,essv5123412,essv5117573,essv5067517,essv5045619,essv5089411,essv5107629,essv5123048,essv5062638,essv5135040,essv5151932,essv5009947,essv5158797,essv5046578,essv5138149,essv5101017,essv5111699,essv5116543,essv5138213,essv5106779,essv5011648,essv5111347,essv5050700,essv5062390,essv5054895,essv5143923,essv5102128,essv5043502,essv5032777,essv5148538,essv5058145,essv5009637,essv5114244,essv5086173,essv5156090,essv5009068,essv5134577,essv5111390,essv5057287,essv5035443,essv5036322,essv5010250,essv5092802,essv5151324,essv5138850,essv5080070,essv5005549,essv5023940,essv5034450,essv5045516,essv5146939,essv5014948,essv5065205,essv5090617,essv5103966,essv5123023,essv5040442,essv5015667,essv5134223,essv5122655,essv5058490,essv5086250,essv5130863,essv5121203,essv5099318,essv5159220,essv5028189,essv5146423,essv5092505,essv5003953,essv5051445,essv5057204,essv5126541,essv5153671,essv5042588,essv5001936,essv5064640,essv5114640,essv5096846,essv5128609,essv5089053,essv5083813,essv5028861,essv5008297,essv5132697,essv5034163,essv5032812,essv5085936,essv5069702,essv5071387,essv5130334,essv5066652,essv5106806 M 1184 0 120 "" NA06984,NA06994,NA07029,NA10845,NA11931,NA11994,NA12865,NA12874,NA12878,NA12891,NA17966,NA17988,NA17993,NA17996,NA17998,NA18105,NA18107,NA18125,NA18129,NA18132,NA18135,NA18136,NA18161,NA18524,NA18532,NA18534,NA18542,NA18557,NA18561,NA18562,NA18563,NA18572,NA18573,NA18576,NA18579,NA18593,NA18612,NA18616,NA18621,NA18630,NA18631,NA18632,NA18634,NA18640,NA18645,NA18682,NA18740,NA18749,NA18956,NA18959,NA18969,NA18977,NA18990,NA18995,NA18998,NA19002,NA19007,NA19009,NA19010,NA19054,NA19060,NA19067,NA19077,NA19081,NA19086,NA19449,NA19456,NA19651,NA19652,NA19653,NA19657,NA19669,NA19671,NA19679,NA19746,NA19747,NA19748,NA19749,NA19755,NA19757,NA19759,NA19760,NA19773,NA19775,NA19777,NA19783,NA19818,NA20517,NA20544,NA20757,NA20790,NA20818,NA20846,NA20858,NA20897,NA20898,NA20903,NA21090,NA21097,NA21108,NA21317,NA21353,NA21365,NA21366,NA21368,NA21402,NA21405,NA21438,NA21478,NA21480,NA21491,NA21519,NA21521,NA21525,NA21573,NA21580,NA21597,NA21600,NA21611,NA21693 esv1749510 2 59498451 59498501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833428 S 2 0 1 "" HuRef nsv9902 2 59519048 59527884 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25956 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 esv271867 2 59523441 59523782 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519293 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11894 nsv508143 2 59556048 59579660 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620181 S 4 0 1 "" NA15510 nsv834181 2 59568423 59755672 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441932 S 95 0 1 "" esv259536 2 59622996 59623263 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394239,essv2393880 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv260029 2 59623002 59623273 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399031,essv2401156,essv2397371,essv2401106,essv2395666,essv2394627,essv2398353,essv2399782,essv2396357,essv2399687 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12878,NA12891,NA18501,NA18870,NA19093,NA19129,NA19138,NA19210 nsv215162 2 59623164 59623164 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233740 M 24 "" nsv874207 2 59648113 59711868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564117 S 6533 0 1 "" IS30171 esv270637 2 59656082 59656167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518732,essv2515264,essv2518387 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA19238,NA19240 esv274096 2 59656083 59656369 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580263 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv874208 2 59677964 59736286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553846 S 6533 0 1 "" MS20355 nsv834192 2 59698611 59824181 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441933 S 95 1 0 "" nsv516737 2 59725478 59726630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670539,nssv676553,nssv692781 M 2026 0 3 "" esv274152 2 59727713 59727972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580787 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267843 2 59727736 59728008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540938,essv2546483,essv2521292,essv2523353,essv2531985,essv2577575,essv2548202,essv2521777,essv2550858,essv2535362,essv2547242,essv2529346,essv2553754,essv2532239,essv2527191,essv2524371,essv2566015,essv2572243,essv2556046,essv2573317,essv2576990,essv2571954,essv2525548,essv2568517,essv2545840,essv2554678,essv2547751 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11831,NA11881,NA11894,NA12004,NA12006,NA12043,NA12045,NA12144,NA12155,NA12249,NA12717,NA12749,NA12763,NA18505,NA18522,NA18555,NA18572,NA18609,NA18956,NA18969,NA18970,NA18973,NA18980,NA19147,NA19239 nsv507014 2 59786660 59792660 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621996,nssv623337 M 4 2 0 "" NA10860,NA18994 esv268259 2 59951193 59951278 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517139 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv9913 2 59966250 59968801 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26553 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv2746 2 60052170 60053561 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3020 S 9 1 0 "" NA18555 nsv508144 2 60069095 60107424 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619031 S 4 0 1 "" NA10860 nsv2747 2 60175998 60221306 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7499 S 9 0 1 "" NA12156 nsv507015 2 60223845 60229845 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623338,nssv617564 M 4 2 0 "" CHM,NA18994 nsv874209 2 60315175 60374389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552243 S 6533 0 1 "" MS19303 nsv834204 2 60384382 60555229 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441934 S 95 1 0 BCL11A,MIR4432 esv1526742 2 60469833 60469833 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005933 S 2 1 0 "" HuRef nsv214016 2 60515259 60516167 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232594 M 24 "" esv2544456 2 60547481 60549196 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182332 S 1 0 1 BCL11A NA18507 nsv519105 2 60556270 60561092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696581 S 2026 0 1 BCL11A esv28146 2 60587262 60588800 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10018 S 451 1 0 BCL11A NA12239 nsv9924 2 60616624 60626521 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28207 S 31 0 1 Samples from several populations that are part of the HapMap project. BCL11A NA19132 esv28277 2 60625324 60639286 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13517 S 451 0 1 BCL11A NA12489 nsv514986 2 60667772 60684056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628468 S 1414 0 0 "" nsv514072 2 60704192 60706884 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628380 S 1414 0 1 "" nsv519006 2 60739390 60741706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696475 S 2026 0 1 "" nsv834215 2 60867493 61067711 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441935 S 95 0 1 FLJ16341,PAPOLG,PUS10,REL nsv2748 2 60892712 60910648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7500 S 9 1 0 "" NA12156 nsv524802 2 60941333 60989633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700794 S 2026 0 1 FLJ16341,REL nsv874210 2 60966056 61244809 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504799 S 6533 1 0 C2orf74,KIAA1841,LOC339803,PEX13,PUS10,REL SP52732 nsv2749 2 60969184 61001647 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6842 S 9 1 0 REL NA12156 esv27455 2 61135716 61138745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20917 S 451 0 1 "" NA19129 nsv874211 2 61183721 61260749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568526 S 6533 0 1 AHSA2,C2orf74,KIAA1841,LOC339803 IS31302 nsv518805 2 61244809 61246679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696259 S 2026 0 1 C2orf74 nsv874212 2 61244809 61538068 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594452 S 6533 1 0 AHSA2,C2orf74,SNORA70B,USP34 IS39881 nsv819479 2 61259198 61259485 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419703 S 2 0 1 AHSA2 AK1 nsv528479 2 61296414 61301997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705082 S 2026 0 1 USP34 nsv874213 2 61302280 61403104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531715,nssv1542286 M 6533 0 2 USP34 MS10611,MS15749 dgv4157n71 2 61302280 61483139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874214,nsv874215,nsv874221 M 6533 0 4 USP34 IS31090,IS31142,IS35229,IS39243 dgv4158n71 2 61302280 61669474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874220,nsv874218,nsv874219,nsv874223,nsv874217,nsv874216,nsv874224,nsv874222,nsv874225 M 6533 0 20 SNORA70B,USP34,XPO1 IS30539,IS30597,IS31067,IS31070,IS31137,IS31302,IS31581,IS31765,IS32615,IS33475,IS33507,IS34489,IS35181,IS35498,IS35743,IS35771,IS38065,IS39464,IS41113,IS41948 nsv7313 2 61448679 64902697 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4418 S 9 0 0 AFTPH,B3GNT2,CCT4,COMMD1,DBIL5P2,EHBP1,FAM161A,LGALSL,LINC00309,LOC100132215,LOC339807,MDH1,MIR4434,OTX1,PELI1,SERTAD2,SNORA70B,TMEM17,UGP2,USP34,VPS54,WDPCP,XPO1 NA12878 nsv874226 2 61512189 61634541 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568818 S 6533 0 1 USP34,XPO1 IS31359 nsv874227 2 61512189 61669474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575996 S 6533 1 0 USP34,XPO1 IS33857 nsv874228 2 61538068 61694874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599358 S 6533 0 1 USP34,XPO1 IS41634 nsv9935 2 61556053 61558893 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28111 S 31 0 1 Samples from several populations that are part of the HapMap project. XPO1 NA19240 esv2463303 2 61564168 61565729 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249619 S 1 0 1 XPO1 NA18507 nsv9946 2 61617053 61618940 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27269,nssv26712,nssv26706,nssv28193,nssv25715,nssv27399,nssv25167,nssv28134,nssv25945,nssv27734,nssv28448,nssv26181,nssv26390,nssv28781,nssv26709,nssv24299 M 31 15 1 Samples from several populations that are part of the HapMap project. XPO1 NA07029,NA07048,NA10839,NA10847,NA10863,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA19144,NA19173 nsv521414 2 61656813 61816465 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698024 S 2026 1 0 "" nsv829439 2 61690907 61696137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424034 S 31 0 1 "" NA18582 nsv2750 2 61712228 61756713 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2263 S 9 0 1 "" NA18555 esv1003715 2 61731963 61736038 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565537 S 3 0 1 "" HuRef nsv874229 2 61742206 62013232 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590053 S 6533 1 0 CCT4,COMMD1,FAM161A IS38449 nsv874230 2 61752645 61829162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582866 S 6533 0 1 "" IS36195 esv34000 2 61753021 62237851 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CCT4,COMMD1,FAM161A nsv458074 2 61772891 62100955 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535119 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCT4,COMMD1,FAM161A HGDP01371 nsv516248 2 61789176 61816406 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663025,nssv667051 M 2026 2 0 "" esv29764 2 61793932 61794836 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11496 S 451 0 1 "" NA18523 nsv470467 2 61867442 62100955 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547219 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCT4,COMMD1,FAM161A HGDP01371 esv2602978 2 61928815 61930332 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337093 S 1 0 1 FAM161A NA18507 esv1668096 2 61929464 61929546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769091 S 2 0 1 FAM161A HuRef esv267460 2 62003591 62003676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515349 S 157 1 0 Samples from several populations that are part of the HapMap project. COMMD1 NA12249 nsv874231 2 62013232 62542296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550763 S 6533 1 0 B3GNT2,COMMD1 MS18599 nsv519398 2 62051382 62084474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677619,nssv673256,nssv655908 M 2026 0 3 COMMD1 nsv526101 2 62333749 62345079 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702349 S 2026 1 0 "" esv272612 2 62355363 62355546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580747,essv2579544 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269070 2 62355364 62355587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510165,essv2500842,essv2510990,essv2503237,essv2506807,essv2511204,essv2495304,essv2504424,essv2505152,essv2507961,essv2500190,essv2501701,essv2495329,essv2510309,essv2508545,essv2507731,essv2503786,essv2493425,essv2511789,essv2510757,essv2504179,essv2494817,essv2508936,essv2506076,essv2498294,essv2497345,essv2513000,essv2494579,essv2497222,essv2497758,essv2508311,essv2504499,essv2507894,essv2506362,essv2500660,essv2494466,essv2507691,essv2508108,essv2508636,essv2510018,essv2501591,essv2512899,essv2507529,essv2505207,essv2501069,essv2507169,essv2493924,essv2513280,essv2509238,essv2507384,essv2495636,essv2511147,essv2497894,essv2512292,essv2500542,essv2495137,essv2505578,essv2504643,essv2499167,essv2512189,essv2501879,essv2498069,essv2503642,essv2495787,essv2511502 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA10851,NA11830,NA11831,NA11881,NA11918,NA11931,NA11992,NA11993,NA11995,NA12003,NA12006,NA12144,NA12287,NA12414,NA12717,NA12751,NA12761,NA12763,NA18499,NA18501,NA18505,NA18519,NA18522,NA18523,NA18526,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18571,NA18572,NA18576,NA18579,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18944,NA18945,NA18949,NA18956,NA18964,NA19005,NA19099,NA19114,NA19238,NA19239,NA19240 nsv508090 2 62357269 62363269 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622344 S 4 0 1 "" NA10860 nsv508145 2 62360269 62401064 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622811 S 4 0 1 "" NA18994 esv1001724 2 62487170 62487170 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571979 S 3 1 0 "" HuRef esv9312 2 62508784 62510306 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31753 S 1 0 0 "" SJK esv267764 2 62517821 62518036 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511212,essv2500228,essv2499444,essv2510331,essv2495841,essv2503019,essv2506098,essv2505703,essv2495611,essv2493065,essv2505479,essv2500535,essv2505586,essv2506608 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12006,NA12044,NA12414,NA12489,NA18507,NA18523,NA18861,NA18916,NA18951,NA18952,NA18956,NA19005,NA19108 nsv2751 2 62544768 62590635 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6843 S 9 0 1 TMEM17 NA12156 dgv60n68 2 62598531 62779540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834226,nsv834237 M 95 6 0 EHBP1 nsv527200 2 62605123 62611548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703599 S 2026 0 1 "" nsv874232 2 62611548 62759588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528167 S 6533 1 0 EHBP1 SP81146 esv8247 2 62697774 62719697 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30688 S 1 0 0 "" SJK esv2589354 2 62811213 62811659 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315346 S 1 1 0 EHBP1 NA18507 esv1123705 2 62811524 62811524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022284 S 2 1 0 EHBP1 HuRef nsv874233 2 63123108 63143953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510661 S 6533 0 1 EHBP1,LOC100132215,OTX1 SP54988 nsv470468 2 63227567 63303016 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547220 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations WDPCP HGDP01224 nsv834241 2 63343766 63521709 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441943 S 95 1 0 WDPCP esv274907 2 63378391 63383365 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586183,essv2586026 M 1250 1 1 WDPCP nsv874234 2 63459505 63520094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499997 S 6533 0 1 WDPCP SP50649 nsv874235 2 63475974 63563212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509448 S 6533 0 1 WDPCP SP54792 nsv819228 2 63517959 63520094 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419390 S 2 0 1 WDPCP AK1 nsv2752 2 63617412 63650588 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4421 S 9 1 0 WDPCP NA12878 esv2479838 2 63632352 63633282 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239601 S 1 1 0 WDPCP NA18507 esv1628034 2 63632740 63632740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890229 S 2 1 0 WDPCP HuRef esv2035676 2 63655903 63656335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595316 S 1 0 1 WDPCP NA18507 esv1071119 2 63656145 63656145 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734161 S 2 1 0 WDPCP HuRef nsv834242 2 63744753 63899121 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441944 S 95 1 0 "" esv2218769 2 63767302 63767763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636100 S 1 0 1 "" NA18507 esv2159263 2 63789710 63790024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863576 S 1 0 1 "" NA18507 nsv213517 2 63789723 63789803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232095 M 24 "" esv272975 2 63818875 63819156 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579004 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268176 2 63818985 63819202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510993,essv2506780,essv2501676,essv2513223,essv2495370,essv2508362,essv2502566,essv2503780,essv2505066,essv2494907,essv2506217,essv2505769,essv2513551,essv2509194,essv2495686,essv2493126,essv2495188,essv2506453,essv2510939,essv2512092,essv2503662,essv2504369,essv2499500 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA07357,NA11831,NA11918,NA12144,NA12249,NA12287,NA12749,NA12750,NA12761,NA12828,NA18520,NA18523,NA18861,NA18907,NA18909,NA18916,NA18951,NA18964,NA19108,NA19116,NA19238 esv2470969 2 63930539 63931981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239382 S 1 0 1 UGP2 NA18507 esv21925 2 63941865 63943459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16609 S 451 0 1 UGP2 NA19240 nsv521717 2 63957636 64040086 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694478 S 2026 1 0 UGP2,VPS54 nsv874236 2 64007719 64032739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505548 S 6533 0 1 VPS54 SP53687 dgv1191e1 2 64106509 64393060 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11901,esv657,essv12611 M 271 0 0 LINC00309,PELI1 NA18500,NA18502 nsv428396 2 64106509 64393060 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453786 S 62 1 0 LINC00309,PELI1 NA18498 nsv2753 2 64125392 64134804 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4422 S 9 1 0 "" NA12878 esv28596 2 64149705 64156923 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10146 S 451 1 0 "" NA12004 dgv151e55 2 64165646 64374870 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34955,esv34698 M 771 2 0 LINC00309,PELI1 NA18500,NA18502 esv2553798 2 64169463 64170843 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205361 S 1 0 1 "" NA18507 nsv834243 2 64170018 64330439 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441946,nssv1441945,nssv1441947,nssv1441949,nssv1441948 M 95 1 4 LINC00309,PELI1 nsv9957 2 64195218 64371735 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27511 S 31 1 0 Samples from several populations that are part of the HapMap project. LINC00309,PELI1 NA18502 esv259937 2 64195558 64369137 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397639 S 144 0 0 Samples from several populations that are part of the HapMap project. LINC00309,PELI1 NA18502 esv29437 2 64195751 64368673 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13275 S 451 1 0 LINC00309,PELI1 NA18502 dgv1192e1 2 64202706 64374794 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13340,essv12875 M 271 0 0 LINC00309,PELI1 NA18500,NA18502 nsv874237 2 64256193 64332564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552758 S 6533 0 1 LINC00309 MS19630 nsv508146 2 64330144 64340827 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620182 S 4 0 1 "" NA15510 esv1010948 2 64331357 64338811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564608 S 3 0 1 "" HuRef nsv435714 2 64331616 64339272 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465902 S 2 0 1 "" NA15510 nsv834244 2 64334447 64499763 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441950 S 95 1 0 "" esv1970100 2 64358316 64358710 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741171 S 1 0 1 "" NA18507 nsv874238 2 64429242 64467745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548240 S 6533 0 1 "" MS17773 nsv834245 2 64476553 64669689 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441952 S 95 1 0 AFTPH,LGALSL,MIR4434 esv271059 2 64485783 64485995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510275,essv2511034,essv2496656,essv2511166,essv2504481,essv2505503,essv2495347,essv2508350,essv2493365,essv2512496,essv2511919,essv2504157,essv2509796,essv2496474,essv2509092,essv2506296,essv2497260,essv2512680,essv2507538,essv2505777,essv2495682,essv2504971,essv2503142,essv2497955,essv2502473,essv2493083,essv2500552,essv2502734,essv2501411,essv2506618,essv2499129,essv2509484,essv2499665,essv2511505 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11831,NA11894,NA11931,NA11993,NA12154,NA12287,NA12749,NA12776,NA18489,NA18499,NA18505,NA18508,NA18510,NA18522,NA18523,NA18545,NA18577,NA18638,NA18861,NA18916,NA18942,NA18943,NA18945,NA18948,NA18951,NA18956,NA18965,NA19093,NA19108,NA19114,NA19129,NA19225 esv275285 2 64517769 64518792 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586010,essv2585262 M 1250 1 1 "" nsv527060 2 64549397 64555586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703438 S 2026 0 1 "" nsv2754 2 64602548 64631961 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7501 S 9 1 0 AFTPH,MIR4434 NA12156 esv269614 2 64625258 64625607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512615,essv2509856,essv2493623,essv2497739,essv2498593,essv2502391,essv2498752,essv2510495 M 157 8 0 Samples from several populations that are part of the HapMap project. AFTPH NA18489,NA18508,NA18517,NA18555,NA18858,NA18948,NA19138,NA19172 nsv820060 2 64652369 64659925 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419830 S 2 0 1 AFTPH AK1 nsv2756 2 64669267 64714169 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7502 S 9 0 1 AFTPH,LOC339807,SERTAD2 NA12156 nsv516331 2 64680124 64682655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667623,nssv681333 M 2026 0 2 "" nsv820222 2 64713206 64713637 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418951 S 2 0 1 SERTAD2 AK1 nsv458096 2 64743412 64814540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535134 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00205 nsv2757 2 64819203 64847468 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5790 S 9 1 0 "" NA19129 esv1115408 2 64924618 64924709 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352163 S 2 0 1 "" HuRef esv1581365 2 64953556 64953556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007925 S 2 1 0 "" HuRef nsv508091 2 64956993 64962993 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622345 S 4 0 1 "" NA10860 nsv458108 2 64959854 64999950 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535142 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC400958 HGDP01287 esv2174309 2 64992799 64993196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4623401 S 1 0 1 LOC400958 NA18507 esv1927164 2 64993045 64994132 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667502 S 1 0 1 LOC400958 NA18507 esv2002191 2 64994006 64994821 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801058 S 1 0 1 LOC400958 NA18507 esv272638 2 65017245 65017578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582188,essv2582654 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv268879 2 65017249 65017588 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514708,essv2515474,essv2518521,essv2518032,essv2517633,essv2516270,essv2513750 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA12249,NA12287,NA12872,NA12878,NA12891 nsv527570 2 65053564 65061578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704031 S 2026 0 1 "" nsv834246 2 65062514 65257575 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441953 S 95 0 1 CEP68,RAB1A,SLC1A4 esv275563 2 65066608 65073870 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585397 S 1250 0 1 SLC1A4 nsv819395 2 65168206 65171697 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419552 S 2 0 1 RAB1A AK1 esv271114 2 65187256 65187607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514611,essv2519338,essv2517511,essv2517089,essv2514054,essv2515494,essv2518563,essv2515101,essv2516445,essv2518061,essv2515993,essv2514292,essv2517697,essv2518209,essv2519366 M 157 15 0 Samples from several populations that are part of the HapMap project. RAB1A NA07346,NA11840,NA11894,NA11918,NA11931,NA12043,NA12249,NA12287,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA19240 esv272265 2 65187256 65187607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581495,essv2581073 M 7 2 0 Samples from several populations that are part of the HapMap project. RAB1A NA12878,NA19240 esv1007213 2 65187288 65187288 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569115 S 3 1 0 RAB1A HuRef esv1784939 2 65187307 65187307 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077462 S 2 1 0 RAB1A HuRef nsv215251 2 65247238 65247480 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233829 M 24 "" nsv527241 2 65345306 65348787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703643 S 2026 0 1 ACTR2 nsv213210 2 65437197 65442901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231788 M 24 SPRED2 esv2045738 2 65450109 65450536 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698591 S 1 0 1 SPRED2 NA18507 nsv2758 2 65457175 65490234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2264 S 9 1 0 SPRED2 NA18555 nsv874239 2 65498065 65577577 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578171 S 6533 1 0 SPRED2 IS34700 nsv508841 2 65588661 65667142 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619905 S 4 1 0 "" NA10860 esv273592 2 65599928 65601563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580630,essv2579274,essv2579532 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268268 2 65599929 65601590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504441,essv2507968,essv2502345,essv2505517,essv2513187,essv2508533,essv2508796,essv2500327,essv2502820,essv2496453,essv2494718,essv2506156,essv2499969,essv2508290,essv2511283,essv2494487,essv2507611,essv2512669,essv2508127,essv2508435,essv2505467,essv2503692,essv2502653,essv2498845,essv2512049,essv2498182,essv2503955,essv2513125 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11993,NA12003,NA12004,NA12154,NA12249,NA12717,NA12878,NA12891,NA12892,NA18510,NA18519,NA18523,NA18558,NA18561,NA18570,NA18572,NA18576,NA18577,NA18579,NA18582,NA18952,NA18960,NA18965,NA19138,NA19238,NA19240 nsv874240 2 65657770 65745934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578172 S 6533 1 0 "" IS34700 esv1928583 2 65660812 65661503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863006 S 1 0 1 "" NA18507 esv1006906 2 65661014 65661323 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583514 S 3 0 1 "" HuRef esv7841 2 65661019 65661322 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30282 S 1 0 1 "" SJK esv1201545 2 65661023 65661333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326350 S 2 0 1 "" HuRef nsv215435 2 65661024 65661333 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234013 M 24 "" nsv829440 2 65667386 65688637 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424219 S 31 1 0 "" NA18968 esv1010386 2 65677311 65683311 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564085 S 3 1 0 "" HuRef nsv512772 2 65681679 65681736 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625403 S 1 1 0 "" 1 esv995387 2 65700468 65706747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564649 S 3 0 1 "" HuRef nsv874241 2 65762210 65801598 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578173 S 6533 1 0 "" IS34700 nsv518362 2 65840795 65922480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695789 S 2026 0 1 "" nsv2759 2 65844890 65877146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4651 S 9 0 1 "" NA19129 dgv632n67 2 65862033 65863246 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829442,nsv829441 M 31 0 3 "" AK14,NA18526,NA18570 nsv829443 2 65862033 65863542 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439528 S 31 0 1 "" NA18537 nsv874242 2 65884484 65961168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578174 S 6533 1 0 "" IS34700 esv29453 2 65885945 65889897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14928 S 451 0 1 "" NA19190 nsv874243 2 65906977 66352279 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585728 S 6533 0 1 "" IS37639 esv21875 2 65936965 65941075 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9756 S 451 0 1 "" NA19147 dgv4159n71 2 65951004 66014195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874245,nsv874244 M 6533 0 3 "" IS31372,IS35777,IS38995 esv28608 2 65953133 65958519 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11527 S 451 3 0 "" NA06985,NA12489,NA12878 dgv1193e1 2 65982998 66002806 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1203,essv14006 M 271 0 0 "" NA19222 esv28533 2 66011185 66013891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14169 S 451 0 1 "" NA18916 nsv526156 2 66021569 66054152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702415 S 2026 0 1 "" nsv2760 2 66030429 66062163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6844 S 9 0 1 "" NA12156 esv29105 2 66039437 66050573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19801 S 451 0 1 "" NA12156 nsv498924 2 66039469 66050567 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585785 S 9 0 1 "" nsv514987 2 66041044 66050528 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628470 S 1414 0 0 "" nsv2761 2 66089019 66122819 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5791 S 9 1 0 "" NA19129 nsv829444 2 66150304 66151157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434254,nssv1440900 M 31 0 2 "" NA18570,NA18969 dgv1194e1 2 66182560 66353369 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv36,essv20895 M 271 0 0 "" NA12801 nsv525001 2 66186418 66187675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701034 S 2026 0 1 "" nsv9968 2 66237721 66246915 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28257 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv32681 2 66304478 66304921 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99328 S 51 1 0 "" 22275 nsv521834 2 66337139 66339995 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694607 S 2026 0 1 "" esv988817 2 66356442 66363999 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564634 S 3 0 1 "" HuRef nsv9979 2 66358238 66363208 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27834,nssv28298,nssv26191,nssv26563,nssv26180 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18537,NA18563,NA18564,NA18572,NA19007 dgv633n67 2 66359055 66361142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829447,nsv829446,nsv829445 M 31 0 15 "" AK12,AK18,AK20,AK4,AK8,NA18537,NA18552,NA18564,NA18566,NA18582,NA18947,NA18949,NA18968,NA18972,NA18997 dgv81e180 2 66359055 66361142 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997681,esv987763 M 3 0 1 "" HuRef nsv819893 2 66359069 66361948 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419488 S 2 0 1 "" AK1 esv8942 2 66359100 66361052 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31383 S 1 0 1 "" SJK esv27236 2 66359130 66361117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19732 S 451 0 10 "" NA11894,NA11995,NA12044,NA12287,NA12414,NA12489,NA12749,NA12878,NA18511,NA19190 nsv514073 2 66359168 66360808 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628391 S 1414 0 1 "" esv269965 2 66512463 66512770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576064,essv2540898,essv2571585,essv2546501,essv2521212,essv2526269,essv2542499,essv2522684,essv2544201,essv2570771,essv2556776,essv2568063,essv2523227,essv2531735,essv2577622,essv2570440,essv2548559,essv2521476,essv2576710,essv2550771,essv2550370,essv2535420,essv2554293,essv2544472,essv2520503,essv2529365,essv2558406,essv2564570,essv2577936,essv2553893,essv2559736,essv2576293,essv2520269,essv2564250,essv2554941,essv2530673,essv2561826,essv2537274,essv2528310,essv2546648,essv2540172,essv2520937,essv2557530,essv2556876,essv2552611,essv2532410,essv2578846,essv2550133,essv2558938,essv2537001,essv2569803,essv2527115,essv2561664,essv2552904,essv2561177,essv2522204,essv2566067,essv2531101,essv2532886,essv2567361,essv2541737,essv2553438,essv2535837,essv2572353,essv2559304,essv2566895,essv2542170,essv2551086,essv2543756,essv2562392,essv2533832,essv2578450,essv2573036,essv2555324,essv2533667,essv2530043,essv2527453,essv2534367,essv2531302,essv2576955,essv2572130,essv2525569,essv2575491,essv2574983,essv2538856,essv2526330,essv2524151,essv2572878,essv2568516,essv2545164,essv2549703,essv2571170,essv2574271,essv2551402,essv2535925,essv2537805,essv2532961,essv2554699,essv2547758,essv2525138,essv2563506,essv2557956 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18510,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18542,NA18562,NA18571,NA18572,NA18573,NA18576,NA18582,NA18592,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18870,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18949,NA18952,NA18959,NA18961,NA18970,NA18973,NA18980,NA19099,NA19102,NA19108,NA19114,NA19129,NA19143,NA19147,NA19172,NA19225,NA19238,NA19240,NA19257 esv274313 2 66512464 66512680 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582043,essv2582523,essv2583200,essv2583949,essv2583353 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1226948 2 66512495 66512495 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646169 S 2 1 0 "" HuRef nsv834248 2 66610377 66823882 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441954 S 95 1 0 MEIS1 nsv522353 2 66657397 66661540 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695132 S 2026 0 1 "" esv268554 2 66717673 66717758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519131 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv508092 2 66797344 66803344 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621524,nssv622346,nssv624273,nssv618542 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv26587 2 66831848 66836988 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16286 S 451 0 1 "" NA12776 nsv214098 2 66843715 66843715 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232676 M 24 "" esv2249737 2 66854080 66854433 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763738 S 1 0 1 "" NA18507 nsv874246 2 66855473 67001358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512279 S 6533 0 1 "" SP55401 esv1735022 2 66855904 66855904 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759772 S 2 1 0 "" HuRef esv269425 2 66915929 66916333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505107,essv2493454,essv2499576 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11995,NA12763 nsv2762 2 66937997 66970867 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6845 S 9 1 0 "" NA12156 nsv874247 2 66958846 66994826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514082 S 6533 0 1 "" SP55926 nsv458119 2 67058146 67093532 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535144 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00151 essv717 2 67120211 67190521 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18940 dgv1195e1 2 67120211 67319166 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv789,essv16331 M 271 0 0 LOC644838 NA19193 esv34381 2 67126624 67169754 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980023,essv6989139,essv6988294 M 771 0 1 "" NA18940 nsv428397 2 67140783 67319166 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453798 S 62 1 0 LOC644838 HGDP00449 nsv829449 2 67173943 67187954 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438657 S 31 0 1 "" NA18973 nsv9991 2 67177076 67182775 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26387,nssv26397 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18552,NA19007 nsv829450 2 67178185 67182251 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422439,nssv1424811 M 31 0 2 "" AK2,NA18552 nsv818006 2 67277697 67291544 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416312 S 112 1 0 LOC644838 NA18855 nsv2763 2 67306685 67340236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7503 S 9 1 0 "" NA12156 dgv220n21 2 67317651 67319257 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525890,nsv525580 M 2026 0 2 "" nsv834249 2 67368975 67545109 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441955 S 95 0 1 ETAA1 esv27652 2 67612564 67619720 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17789 S 451 0 1 "" NA18858 nsv515948 2 67613576 67616410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688933,nssv656145,nssv667527,nssv669510,nssv687265,nssv666051,nssv666901,nssv690103,nssv679429,nssv665417,nssv658071,nssv682519,nssv662533,nssv692548 M 2026 0 14 "" esv2422119 2 67613576 67619396 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5103795,essv5012992,essv5033770,essv5041735,essv5062319,essv5157624,essv5012631,essv5047951,essv5079028,essv5035284,essv5114446,essv5100799,essv5027902,essv5119882,essv5039351,essv5047995,essv5093049,essv5027021 M 1184 0 18 "" NA18484,NA18486,NA18858,NA18860,NA18871,NA18872,NA19119,NA19120,NA19204,NA19818,NA19828,NA19917,NA19982,NA20129,NA20277,NA20346,NA20357,NA20358 nsv514074 2 67614088 67616800 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628403 S 1414 0 1 "" nsv441759 2 67614459 67619396 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv272531 2 67672561 67673122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580231,essv2580461,essv2579938,essv2581021,essv2579676 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv267617 2 67672698 67672783 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514713,essv2515797,essv2515239,essv2518338 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA18969,NA19238,NA19240 nsv834250 2 67751226 67905036 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441956 S 95 1 0 "" esv999761 2 67828379 67828571 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584467 S 3 0 1 "" HuRef nsv2764 2 67830913 67876380 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6846 S 9 0 1 "" NA12156 esv2445496 2 67846164 67847563 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298808 S 1 0 1 "" NA18507 nsv2765 2 67887752 67910332 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9858 S 9 1 0 "" NA18507 esv2504614 2 67888361 67888502 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275345 S 1 0 1 "" NA18507 esv1555439 2 67893966 67893966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872683 S 2 1 0 "" HuRef esv270528 2 67902692 67908787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496884,essv2509718,essv2501107,essv2508952,essv2494058,essv2509314,essv2506507,essv2502244 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18516,NA18522,NA18871,NA18909,NA19108,NA19257 nsv874248 2 67957458 67986206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517672 S 6533 0 1 "" SP57347 esv4659 2 67987092 67987564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27100 S 1 0 1 Single Asian sample YH "" YH esv1000550 2 67987105 67987299 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567090 S 3 0 1 "" HuRef esv1003488 2 67987198 67987333 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568104 S 3 0 1 "" HuRef esv1159578 2 67987214 67987354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907486 S 2 0 1 "" HuRef esv269883 2 67996534 67996872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510608,essv2493304,essv2493789,essv2508920,essv2498488,essv2495592,essv2504685,essv2498926,essv2511925,essv2501810,essv2498126 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA18517,NA18522,NA18858,NA18916,NA19099,NA19138,NA19238,NA19239,NA19240 esv272868 2 67996556 67996881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584061,essv2584499,essv2583529 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv834251 2 68096232 68281239 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441957 S 95 0 1 C1D,PNO1,PPP3R1,WDR92 nsv525802 2 68114519 68132547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701986 S 2026 0 1 C1D nsv874249 2 68244591 68351369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513914 S 6533 0 1 PNO1,PPP3R1 SP55878 esv268201 2 68259095 68259216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493178,essv2509922,essv2494806,essv2505950,essv2501333,essv2504809,essv2499210,essv2499834 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18508,NA18519,NA18861,NA19093,NA19099,NA19114,NA19225 dgv221n21 2 68396002 68399953 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516243,nsv526465 M 2026 0 19 CNRIP1 nsv524297 2 68396798 68401664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700198 S 2026 0 1 CNRIP1 nsv874250 2 68433476 68500599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554360,nssv1541781 M 6533 0 2 PLEK MS15491,MS20753 esv272014 2 68501687 68502024 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494377,essv2496333,essv2494689,essv2507849,essv2507037,essv2494007,essv2507371,essv2497424,essv2495156,essv2501392,essv2510851,essv2497471,essv2502130 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18519,NA18564,NA18870,NA18871,NA18912,NA18959,NA18964,NA19093,NA19116,NA19147,NA19257 esv1140120 2 68531558 68531558 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326740 S 2 1 0 "" HuRef esv2525478 2 68586453 68587507 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167423 S 1 1 0 APLF NA18507 esv268840 2 68586886 68587243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500239,essv2505047,essv2496846,essv2494250,essv2493184,essv2504327,essv2496423,essv2501215,essv2493698,essv2494746,essv2506192,essv2505194,essv2501051,essv2505895,essv2507151,essv2494081,essv2513331,essv2507361,essv2501347,essv2504646,essv2506844,essv2499181,essv2510845,essv2493565,essv2498757,essv2497652,essv2496964,essv2499608,essv2512011,essv2501767,essv2498058,essv2502090 M 157 32 0 Samples from several populations that are part of the HapMap project. APLF NA12006,NA12828,NA18498,NA18502,NA18504,NA18505,NA18510,NA18516,NA18517,NA18519,NA18523,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18912,NA19093,NA19099,NA19102,NA19114,NA19116,NA19137,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273855 2 68586896 68587224 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583909,essv2584557,essv2583468 M 7 3 0 Samples from several populations that are part of the HapMap project. APLF NA19238,NA19239,NA19240 esv2576058 2 68597386 68601219 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168011 S 1 0 1 APLF NA18507 esv33850 2 68603753 68604747 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99902,essv99202 M 51 1 1 APLF 22086,22275 esv1006357 2 68619240 68619240 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575640 S 3 1 0 APLF HuRef nsv829451 2 68767594 68768275 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440901 S 31 1 0 "" NA18969 nsv829452 2 68767699 68768275 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435721 S 31 0 1 "" NA18566 esv5635 2 68929536 68929624 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28076 S 1 1 0 "" SJK esv25337 2 69069349 69071079 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17437 S 451 0 3 "" NA18858,NA19099,NA19257 nsv521516 2 69116413 69116624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698133 S 2026 0 1 ANTXR1 esv1001025 2 69176963 69177014 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576448 S 3 0 1 ANTXR1 HuRef esv33940 2 69195924 69869677 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99375 S 51 0 1 AAK1,ANTXR1,ANXA4,GFPT1,NFU1,SNORA36C 22335 nsv2767 2 69223079 69257044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3021 S 9 1 0 ANTXR1 NA18555 nsv528644 2 69251767 69255701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705276 S 2026 0 1 ANTXR1 nsv834252 2 69422007 69575882 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441958 S 95 0 1 AAK1,GFPT1,NFU1 nsv819601 2 69540814 69541069 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419492 S 2 0 1 AAK1 AK1 nsv834253 2 69549146 69741847 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441959,nssv1441960 M 95 0 2 AAK1,SNORA36C nsv527716 2 69561181 69577214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704197 S 2026 0 1 AAK1 nsv214841 2 69570104 69573794 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233419 M 24 AAK1 esv268238 2 69598140 69598225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514679,essv2514867,essv2513754 M 157 3 0 Samples from several populations that are part of the HapMap project. AAK1 NA07347,NA11840,NA12234 nsv2768 2 69778491 69797812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3022 S 9 1 0 "" NA18555 nsv834254 2 69826076 70002032 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441961 S 95 1 0 ANXA4,GMCL1,MXD1,SNRNP27 esv7380 2 69861471 69861551 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29821 S 1 1 0 ANXA4 SJK dgv634n67 2 69933967 69935333 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829454,nsv829453 M 31 0 2 GMCL1 NA18947,NA18972 nsv511168 2 69977068 69981850 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626199 S 1 0 1 SNRNP27 1 esv2632499 2 69977929 69979895 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254978 S 1 0 1 SNRNP27 NA18507 esv26099 2 69978299 69979059 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19114 S 451 3 16 SNRNP27 NA06985,NA07045,NA11894,NA11993,NA12006,NA12044,NA12287,NA12489,NA15510,NA18502,NA18505,NA18517,NA18861,NA18909,NA18916,NA19099,NA19129,NA19225,NA19257 nsv821606 2 69978299 69979158 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420216 S 1 0 1 SNRNP27 NA10851 esv2152444 2 69978353 69979268 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659798 S 1 0 1 SNRNP27 NA18507 esv4119 2 69978495 69979191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26560 S 1 0 1 Single Asian sample YH SNRNP27 YH nsv511788 2 69978495 69980737 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626438 S 1 0 1 SNRNP27 1 esv9663 2 69978557 69979069 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32104 S 1 0 1 SNRNP27 SJK nsv829455 2 69985137 69991164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424812 S 31 0 1 SNRNP27 AK2 nsv518294 2 70191848 70382105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695725 S 2026 0 1 C2orf42,FAM136A,LOC100133985,PCYOX1,SNRPG,TIA1 esv2523050 2 70361309 70362761 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325228 S 1 0 1 PCYOX1,SNRPG NA18507 nsv2769 2 70429164 70462576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7504 S 9 1 0 "" NA12156 nsv834255 2 70492710 70677309 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441964,nssv1441965 M 95 2 0 TGFA nsv820792 2 70514658 70516002 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420217 S 1 0 1 "" NA10851 esv23524 2 70514658 70516288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13040 S 451 0 10 "" NA07037,NA12004,NA12006,NA12239,NA12489,NA18508,NA18858,NA18909,NA19099,NA19257 nsv511789 2 70514686 70516186 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626439 S 1 0 1 "" 1 esv7103 2 70514812 70515975 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29544 S 1 0 1 "" SJK esv1058066 2 70515415 70515708 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995593 S 2 0 1 "" HuRef nsv874251 2 70643040 70676894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512354 S 6533 0 1 "" SP55462 esv270279 2 70651189 70651523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557964,essv2576099,essv2571608,essv2546487,essv2521070,essv2556721,essv2568323,essv2545508,essv2531823,essv2577336,essv2570402,essv2521862,essv2576855,essv2525326,essv2535173,essv2547585,essv2553872,essv2559671,essv2576398,essv2564070,essv2562074,essv2552426,essv2558753,essv2544728,essv2553020,essv2538261,essv2542863,essv2540547,essv2564821,essv2534676,essv2561213,essv2549199,essv2531274,essv2532592,essv2567800,essv2528819,essv2541779,essv2535876,essv2559245,essv2555297,essv2555610,essv2567116,essv2522557,essv2543128,essv2526782,essv2524182,essv2574681,essv2537989,essv2532960,essv2525074,essv2563365 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07357,NA10847,NA10851,NA11830,NA11840,NA11881,NA11894,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12717,NA12763,NA12776,NA12814,NA12828,NA12874,NA18502,NA18516,NA18526,NA18542,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18573,NA18576,NA18577,NA18579,NA18592,NA18608,NA18638,NA18943,NA18945,NA18947,NA18960,NA18965,NA19005,NA19129,NA19138 esv1018627 2 70651223 70651223 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091989 S 2 1 0 "" HuRef nsv523670 2 70679724 70684136 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699472 S 2026 1 0 "" nsv521452 2 70701039 70734349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698063 S 2026 0 1 "" nsv2770 2 70813411 70847312 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5792 S 9 1 0 ADD2 NA19129 nsv458130 2 70896969 70909606 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535153 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLEC4F HGDP00991 nsv874252 2 70909606 70914616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513107 S 6533 0 1 CD207 SP55684 nsv519862 2 70991784 70994468 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694351 S 2026 1 0 VAX2 esv1120035 2 71017772 71017822 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714129 S 2 0 1 ATP6V1B1 HuRef nsv874253 2 71030168 71248744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521947 S 6533 1 0 ANKRD53,ATP6V1B1,MCEE,MPHOSPH10,NAGK,OR7E91P,TEX261 SP52651 nsv517881 2 71060134 71138848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695289 S 2026 0 1 ANKRD53,OR7E91P,TEX261 esv27910 2 71069140 71125652 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16438 S 451 1 0 OR7E91P,TEX261 NA19108 nsv508147 2 71080441 71147678 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620183 S 4 0 1 OR7E91P NA15510 nsv436277 2 71102240 71117284 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465903 S 2 0 1 Samples from several populations that are part of the HapMap project. OR7E91P NA18505 nsv834256 2 71110122 71283320 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441966 S 95 1 0 MCEE,MPHOSPH10,NAGK,OR7E91P,PAIP2B nsv818017 2 71117276 71130206 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416707,nssv1416708 M 112 0 2 "" NA19160,NA19161 nsv524446 2 71144566 71158964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700379 S 2026 0 1 NAGK esv32639 2 71148251 71151414 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98800,essv99784 M 51 2 0 NAGK 21606,22086 nsv517762 2 71180860 71204995 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668208,nssv657701,nssv667448,nssv686240,nssv669511,nssv671398,nssv651780,nssv684909,nssv687965,nssv667825,nssv665970,nssv681509,nssv653543,nssv676111,nssv656976,nssv682604,nssv680043,nssv666788,nssv661717,nssv690738,nssv686931,nssv660308,nssv655558,nssv654570,nssv673792,nssv670655,nssv654227,nssv678513,nssv675768,nssv662049,nssv675904,nssv677870,nssv659299,nssv676181,nssv672079,nssv657500,nssv652628,nssv676961,nssv689040,nssv686499,nssv686313,nssv651709,nssv659781,nssv666421,nssv672928,nssv685376,nssv670735,nssv656122,nssv682909,nssv693105,nssv693243,nssv681974,nssv664759,nssv658638,nssv688225,nssv689582,nssv684998,nssv657616,nssv689510,nssv683383,nssv662966,nssv681667,nssv665668,nssv653865,nssv693907,nssv672869,nssv659160,nssv681164,nssv669380,nssv677533,nssv662765,nssv679856,nssv665448,nssv691114,nssv685460,nssv658721,nssv679430,nssv658880,nssv651945,nssv666438,nssv670820,nssv689178,nssv687448,nssv692032,nssv661326,nssv671852,nssv657550,nssv655150,nssv662108,nssv688580,nssv656543,nssv690479,nssv681084,nssv661909,nssv656283,nssv657256,nssv675214,nssv692494,nssv657416,nssv656590,nssv668012 M 2026 2 99 MCEE nsv874254 2 71180860 71220706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574055 S 6533 0 1 MCEE,MPHOSPH10 IS33507 nsv438353 2 71185811 71196099 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471015,nssv471012,nssv471014,nssv471011,nssv471010,nssv471009 M 269 0 6 Samples from several populations that are part of the HapMap project. MCEE NA18505,NA18855,NA18857,NA18913,NA19138,NA19139 nsv2771 2 71189100 71225890 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1501 S 9 0 1 MCEE,MPHOSPH10 NA19240 nsv10002 2 71195574 71202222 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28161,nssv24589,nssv28850 M 31 0 3 Samples from several populations that are part of the HapMap project. MCEE NA18972,NA19144,NA19240 dgv1196e1 2 71195650 71226928 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11077,esv1304,essv16564 M 271 0 0 MCEE,MPHOSPH10 NA19138,NA19193 esv22790 2 71195714 71201320 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17442 S 451 0 6 MCEE NA18505,NA18508,NA18523,NA18861,NA19147,NA19240 nsv436287 2 71195896 71201301 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465904 S 2 0 1 Samples from several populations that are part of the HapMap project. MCEE NA18505 nsv498925 2 71196046 71201394 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585786 S 9 0 1 MCEE nsv818028 2 71196064 71199269 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416315,nssv1416832,nssv1416909,nssv1416911,nssv1415573,nssv1415584,nssv1417653,nssv1416910,nssv1416831,nssv1417578,nssv1418435,nssv1416314,nssv1416833,nssv1418433,nssv1418434,nssv1416313 M 112 0 16 MCEE NA18855,NA18856,NA18857,NA18972,NA18992,NA19137,NA19138,NA19139,NA19140,NA19142,NA19192,NA19193,NA19194,NA19238,NA19239,NA19240 nsv818039 2 71196064 71204995 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418134 S 112 0 1 MCEE NA19144 nsv514075 2 71197568 71201344 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628414 S 1414 0 1 MCEE nsv508148 2 71200816 71282620 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620184 S 4 0 1 MCEE,MPHOSPH10,PAIP2B NA15510 nsv819575 2 71204935 71205087 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419547 S 2 1 0 MCEE AK1 esv24266 2 71246479 71250439 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15390 S 451 0 1 "" NA19114 nsv521345 2 71425963 71539037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697954 S 2026 0 1 DYSF,ZNF638 nsv519545 2 71436699 71512049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696913 S 2026 0 1 ZNF638 nsv526102 2 71481368 71484617 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702350 S 2026 1 0 ZNF638 dgv4160n71 2 71544368 71600743 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874255,nsv874256 M 6533 2 0 DYSF SP51332,SP55630 esv274492 2 71559765 71559979 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579357,essv2579424 M 7 2 0 Samples from several populations that are part of the HapMap project. DYSF NA19239,NA19240 esv268421 2 71559765 71559989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496639,essv2495475,essv2511460,essv2511200,essv2504414,essv2500172,essv2512460,essv2508040,essv2505559,essv2513150,essv2495319,essv2495851,essv2503410,essv2508565,essv2502565,essv2507776,essv2503789,essv2493441,essv2508802,essv2500319,essv2496776,essv2511802,essv2510724,essv2509748,essv2496219,essv2506087,essv2499912,essv2511282,essv2509995,essv2500944,essv2498428,essv2509277,essv2511615,essv2504967,essv2511134,essv2503458,essv2512381,essv2493143,essv2505419,essv2500490,essv2497373,essv2502702,essv2500800,essv2512820,essv2495017,essv2499539,essv2513110 M 157 47 0 Samples from several populations that are part of the HapMap project. DYSF NA07051,NA07357,NA10847,NA11894,NA11919,NA11920,NA11931,NA11993,NA12006,NA12043,NA12045,NA12154,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA18498,NA18499,NA18501,NA18508,NA18511,NA18523,NA18562,NA18570,NA18593,NA18856,NA18858,NA18909,NA18940,NA18942,NA18944,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18965,NA18973,NA18980 nsv458141 2 71560716 71570002 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535161 S 1557 0 1 DYSF NINDS_65 nsv525538 2 71565457 71568954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701674 S 2026 0 1 DYSF nsv520271 2 71577870 71604015 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681874,nssv662276 M 2026 2 0 DYSF nsv874257 2 71577904 71715095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546489 S 6533 0 1 DYSF MS17208 nsv520774 2 71584554 71687044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697602 S 2026 0 1 DYSF nsv458163 2 71596400 71632623 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535164 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DYSF HGDP00935 nsv874258 2 71614062 71684197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530452 S 6533 0 1 DYSF MS10311 nsv458174 2 71645085 71669274 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535168 S 1557 0 1 DYSF NINDS_65 esv29541 2 71701923 71702812 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17276 S 451 1 0 DYSF NA19190 esv2437559 2 71743280 71743407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183219 S 1 0 1 DYSF NA18507 nsv520337 2 71762871 71785539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683689,nssv663004 M 2026 0 2 DYSF esv4466 2 71771961 71772442 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26907 S 1 0 1 Single Asian sample YH "" YH esv2338812 2 71771991 71772421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532055 S 1 0 1 "" NA18507 esv995810 2 71772115 71772205 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568946 S 3 0 1 "" HuRef esv1702788 2 71772207 71772298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157120 S 2 0 1 "" HuRef nsv2772 2 71784497 71818553 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7505 S 9 1 0 "" NA12156 nsv874259 2 71811988 71856591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537052 S 6533 0 1 "" MS13095 nsv511189 2 71849186 71850836 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626432 S 1 1 0 "" 1 esv2071979 2 71849740 71850991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770757 S 1 0 1 "" NA18507 nsv526506 2 72045877 72059514 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702816 S 2026 1 0 "" dgv4161n71 2 72095521 72124298 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874260,nsv874261 M 6533 0 3 "" SP50637,SP52147,SP56125 dgv4162n71 2 72095521 72133022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874263,nsv874262 M 6533 0 3 "" SP50973,SP52455,SP56246 esv1737838 2 72098252 72098252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985320 S 2 1 0 "" HuRef esv1004274 2 72168367 72177818 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564283 S 3 0 1 "" HuRef nsv874264 2 72446751 72754678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528951 S 6533 0 1 EXOC6B SP81407 nsv2773 2 72457416 72502819 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6847 S 9 0 1 EXOC6B NA12156 nsv834257 2 72554591 72707056 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441967 S 95 1 0 EXOC6B nsv2774 2 72628116 72662747 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1502 S 9 1 0 EXOC6B NA19240 nsv874265 2 72643272 72836117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516210 S 6533 1 0 EXOC6B SP56549 esv2425313 2 72679651 72681226 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176687 S 1 0 1 EXOC6B NA18507 nsv2775 2 72706753 72737419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10213 S 9 1 0 EXOC6B NA18956 nsv834259 2 72794626 72967614 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441968 S 95 1 0 EXOC6B nsv874266 2 72991499 73073646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530453 S 6533 0 1 EMX1,SFXN5 MS10311 esv27979 2 73123792 73133935 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20443 S 451 0 1 SFXN5 NA18508 esv2636937 2 73139422 73141023 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233257 S 1 0 1 SFXN5 NA18507 esv2237523 2 73140097 73140748 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516231 S 1 0 1 SFXN5 NA18507 esv2388236 2 73284263 73284932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4940753 S 1 0 1 NOTO NA18507 nsv2776 2 73285362 73335812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7506,nssv4423 M 9 0 2 CCT7,FBXO41,NOTO,PRADC1,SMYD5 NA12156,NA12878 esv2026441 2 73382797 73383218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875503 S 1 0 1 "" NA18507 esv2465968 2 73429133 73430468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325512 S 1 0 1 "" NA18507 nsv2778 2 73449780 73468646 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7507 S 9 0 1 ALMS1 NA12156 nsv2779 2 73453639 73487413 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4424 S 9 1 0 ALMS1 NA12878 esv2577218 2 73513771 73515198 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361393 S 1 0 1 ALMS1 NA18507 nsv829456 2 73534309 73534801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423206 S 31 0 1 ALMS1 NA18999 dgv1197e1 2 73570540 73932100 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7190,essv7799,esv294,essv3371,essv3690,essv2895 M 271 0 0 ALMS1,ALMS1P,C2orf78,DUSP11,NAT8,NAT8B,STAMBP,TPRKB NA18547,NA18558,NA18945,NA18947,NA18953 nsv874267 2 73571164 73710510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586394 S 6533 0 1 ALMS1 IS37775 dgv635n67 2 73572225 73572950 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829458,nsv829457 M 31 0 2 ALMS1 AK8,NA18547 esv267436 2 73577198 73577531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571628,essv2523067,essv2545287,essv2529334,essv2559475,essv2533417 M 157 6 0 Samples from several populations that are part of the HapMap project. ALMS1 NA07051,NA11840,NA11931,NA12003,NA12749,NA12776 essv105 2 73670503 73932100 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ALMS1,ALMS1P,C2orf78,DUSP11,NAT8,NAT8B,STAMBP,TPRKB NA18968 dgv4163n71 2 73691259 73785479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874268,nsv874271,nsv874272,nsv874274,nsv874273,nsv874270,nsv874269,nsv874275 M 6533 0 42 ALMS1P,NAT8,NAT8B IS36064,IS39888,IS41511,MS10156,MS10574,MS10658,MS10950,MS11064,MS11257,MS11854,MS12209,MS12387,MS13169,MS13455,MS14518,MS14679,MS14681,MS14918,MS15573,MS15753,MS15856,MS16137,MS17380,MS17527,MS18748,MS18911,MS19002,MS19489,MS20239,MS20632,MS20850,MS21218,MS21550,MS21758,MS21833,MS23031,MS23152,MS24248,MS24553,MS24589,MS25275,MS26073 nsv10013 2 73691689 73694683 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26570 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19007 nsv874276 2 73700532 73817722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561730,nssv1550215 M 6533 0 2 ALMS1P,NAT8,NAT8B,TPRKB MS18375,MS25205 esv2497164 2 73704225 73765530 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229183 S 1 0 1 ALMS1P,NAT8 NA18507 nsv829460 2 73709653 73767219 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438308 S 31 1 0 ALMS1P,NAT8 NA18547 nsv818044 2 73712692 73760327 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417168 S 112 1 0 ALMS1P,NAT8 NA18547 nsv515605 2 73712692 73770180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684696,nssv661684,nssv688998,nssv665127,nssv689041,nssv666878,nssv655005,nssv689674,nssv691115,nssv682451,nssv654323,nssv666397,nssv663078,nssv661910,nssv664064,nssv671126,nssv678145,nssv692940,nssv667267,nssv656400,nssv685874,nssv677322,nssv662360,nssv659750,nssv676220,nssv671399,nssv663286,nssv674834,nssv665174 M 2026 0 29 ALMS1P,NAT8 dgv4164n71 2 73723518 73785479 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874279,nsv874280,nsv874281,nsv874277,nsv874283,nsv874278 M 6533 20 0 ALMS1P,NAT8B MS10941,MS12202,MS13491,MS16416,MS17974,MS18021,SP50159,SP50660,SP51179,SP53276,SP53280,SP54373,SP55279,SP55321,SP55460,SP56002,SP56922,SP57408,SP58377,SP81161 nsv441760 2 73729307 73782394 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ALMS1P,NAT8B nsv436746 2 73729758 73731480 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465905 S 2 1 0 Samples from several populations that are part of the HapMap project. ALMS1P NA18505 nsv829461 2 73730935 73784733 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424705 S 31 1 0 ALMS1P,NAT8B NA18947 nsv874282 2 73732335 73775983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507728 S 6533 0 1 ALMS1P SP54625 nsv818046 2 73753837 73767527 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416425,nssv1416424 M 112 0 2 ALMS1P NA18515,NA18516 nsv818047 2 73753837 73770180 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417460 S 112 1 0 ALMS1P NA18953 esv34157 2 73755226 73802659 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ALMS1P,NAT8B nsv834260 2 73759614 73930028 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441969 S 95 1 0 ALMS1P,C2orf78,DUSP11,NAT8B,STAMBP,TPRKB nsv511053 2 73844013 73892485 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618639 S 4 0 0 C2orf78,DUSP11 CHM nsv2780 2 73847676 73910756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9859,nssv2266,nssv1503,nssv6848,nssv5793 M 9 0 5 C2orf78,DUSP11,STAMBP NA12156,NA18507,NA18555,NA19129,NA19240 nsv508842 2 73859355 73892485 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621169,nssv623868,nssv619906 M 4 3 0 C2orf78,DUSP11 NA10860,NA15510,NA18994 nsv2781 2 73861408 73895413 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6849,nssv4425,nssv10214 M 9 3 0 C2orf78 NA12156,NA12878,NA18956 nsv10024 2 73863188 73890768 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27411,nssv28488,nssv26729,nssv26852,nssv25960,nssv28288,nssv28880,nssv28348,nssv27621,nssv28811,nssv28243,nssv26170,nssv28307,nssv26846,nssv26722,nssv25447,nssv26376,nssv27929,nssv26850,nssv28097,nssv28151,nssv24904,nssv26549,nssv28012,nssv29037 M 31 8 13 Samples from several populations that are part of the HapMap project. C2orf78 NA07048,NA10847,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221 esv28264 2 73863215 73892893 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12664 S 451 7 16 C2orf78 NA06985,NA07045,NA12006,NA12239,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 dgv15n31 2 73863221 73897782 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471418,nsv471530 M 3 C2orf78 nsv482051 2 73864824 73897782 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558412 S 1 1 0 C2orf78 KB1 esv269716 2 73940636 73944391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512482,essv2509898,essv2496204,essv2506077,essv2507665,essv2506609,essv2493503,essv2498917 M 157 8 0 Samples from several populations that are part of the HapMap project. STAMBP NA18489,NA18508,NA18511,NA18523,NA18576,NA19108,NA19137,NA19138 nsv470469 2 73975731 73991352 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547221 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTG2 HGDP00591 esv2566981 2 73978339 73979210 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337670 S 1 1 0 ACTG2 NA18507 esv271368 2 73978965 73979323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514616,essv2516707,essv2517445,essv2518841,essv2514716,essv2515405,essv2514996,essv2516482,essv2515568,essv2517936,essv2514382,essv2517564,essv2519437 M 157 13 0 Samples from several populations that are part of the HapMap project. ACTG2 NA07346,NA11840,NA11881,NA11918,NA12045,NA12234,NA12249,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878 esv274506 2 73978965 73979323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581570 S 7 1 0 Samples from several populations that are part of the HapMap project. ACTG2 NA12878 esv33667 2 73981757 73981969 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98782 S 51 1 0 ACTG2 21606 nsv818048 2 74078942 74166588 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416317 S 112 1 0 TET3 NA18855 esv1001756 2 74113117 74113117 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583584 S 3 1 0 "" HuRef esv1018075 2 74113118 74113118 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085206 S 2 1 0 "" HuRef nsv2782 2 74121588 74154371 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1504 S 9 1 0 TET3 NA19240 dgv4165n71 2 74137236 74208752 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874285,nsv874284 M 6533 6 0 TET3 MS11451,MS18149,MS19093,MS20042,MS20785,MS25580 esv1346659 2 74142018 74142018 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363647 S 2 1 0 TET3 HuRef esv28348 2 74164062 74164557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18887 S 451 0 2 TET3 NA18916,NA19108 nsv874286 2 74177008 74290229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546490 S 6533 0 1 BOLA3,MOBKL1B,MTHFD2,TET3 MS17208 nsv525117 2 74212409 74228149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701182 S 2026 0 1 BOLA3 nsv834261 2 74245217 74467228 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441970 S 95 0 1 DCTN1,LOC100189589,MOBKL1B,MTHFD2,SLC4A5 dgv1198e1 2 74333432 74424777 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8807,essv21775,essv9245,essv13870,essv10994,essv2340,essv24155,essv12665,essv13063 M 271 0 0 SLC4A5 NA10847,NA12239,NA18500,NA18508,NA18852,NA18854,NA18940,NA19128,NA19143 dgv1199e1 2 74333432 74615933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10844,essv16907,essv7862,essv4724,essv8945,esv288,essv9315,essv10632,essv16668,essv8343,essv14122,essv9430,essv5395,essv6360,essv14526,essv10928,essv125,essv13523,essv13150,essv15467,essv4003 M 271 0 0 AUP1,C2orf81,CCDC142,DCTN1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LOC100189589,LOC151534,LOXL3,MOGS,MRPL53,PCGF1,RTKN,SLC4A5,TLX2,TTC31,WBP1,WDR54 NA18505,NA18558,NA18563,NA18609,NA18620,NA18853,NA18855,NA18858,NA18861,NA18871,NA18968,NA18970,NA19102,NA19142,NA19160,NA19200,NA19202,NA19205,NA19208,NA19209 nsv2783 2 74337990 74346134 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7508 S 9 0 1 SLC4A5 NA12156 esv2466904 2 74363972 74365620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269652 S 1 0 1 SLC4A5 NA18507 esv4660 2 74364498 74365188 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27101 S 1 0 1 Single Asian sample YH SLC4A5 YH esv2123407 2 74364615 74365300 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705362 S 1 0 1 SLC4A5 NA18507 esv7786 2 74364781 74365114 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30227 S 1 0 1 SLC4A5 SJK nsv874287 2 74374919 74448522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581354 S 6533 0 1 DCTN1,SLC4A5 IS35572 dgv636n67 2 74409707 74412219 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829462,nsv829463 M 31 0 2 SLC4A5 AK4,NA18999 esv25070 2 74432619 74462051 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12259 S 451 2 0 DCTN1 NA11993,NA12156 nsv2784 2 74445152 74461047 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6850 S 9 0 1 DCTN1 NA12156 nsv458185 2 74448522 74612442 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535173 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AUP1,C2orf81,CCDC142,DCTN1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LOC100189589,LOC151534,MOGS,MRPL53,PCGF1,RTKN,TLX2,TTC31,WBP1,WDR54 HGDP01296 nsv515851 2 74448522 74612442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693287,nssv665015,nssv689583,nssv658499,nssv692381,nssv705125,nssv656920,nssv689708,nssv657048,nssv667345,nssv683977,nssv692261,nssv706079,nssv661202,nssv680015 M 2026 0 15 AUP1,C2orf81,CCDC142,DCTN1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LOC100189589,LOC151534,MOGS,MRPL53,PCGF1,RTKN,TLX2,TTC31,WBP1,WDR54 dgv4166n71 2 74458181 74667124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874288,nsv874290,nsv874289,nsv874291 M 6533 0 5 AUP1,C2orf65,C2orf81,CCDC142,DCTN1,DOK1,DQX1,HTRA2,INO80B,INO80B-WBP1,LBX2,LOC100189589,LOC151534,LOXL3,MOGS,MRPL53,PCGF1,RTKN,TLX2,TTC31,WBP1,WDR54 IS32322,IS33504,IS37646,MS17208,MS18276 nsv820134 2 74458326 74458959 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419033 S 2 0 1 DCTN1 AK1 nsv874292 2 74748856 74917900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530185 S 6533 1 0 HK2,SEMA4F MS10228 dgv4167n71 2 74756098 74840806 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874295,nsv874293,nsv874294 M 6533 3 0 SEMA4F IS33622,MS19649,SP81187 nsv829464 2 74761391 74761845 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422440 S 31 0 1 SEMA4F NA18552 nsv819293 2 74761659 74761925 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419536 S 2 0 1 SEMA4F AK1 nsv458196 2 74769170 74825589 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535184 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01229 nsv518615 2 74787875 74919158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696062 S 2026 1 0 HK2 nsv516265 2 74800249 74814524 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679562,nssv659127,nssv667178,nssv676299 M 2026 0 4 "" esv2751900 2 74803540 75122572 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985472,essv6981090,essv6981089,essv6981088 M 771 1 0 HK2,POLE4 BEC_351 esv23321 2 74822096 74822820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14285 S 451 0 1 "" NA12489 nsv874296 2 74865835 74992046 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552935 S 6533 1 0 HK2 MS19649 dgv4168n71 2 74865835 75134562 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874297,nsv874298 M 6533 2 0 HK2,POLE4,TACR1 IS33622,SP81187 nsv519007 2 74946976 74951691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696476 S 2026 0 1 HK2 nsv829465 2 74953090 74953850 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423209 S 31 0 1 HK2 NA18999 nsv834262 2 74988527 75142707 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441971 S 95 1 0 POLE4,TACR1 nsv526995 2 74997592 75093133 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703370 S 2026 1 0 POLE4 nsv874299 2 74997592 75176775 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552936 S 6533 1 0 POLE4,TACR1 MS19649 nsv527009 2 75202554 75208988 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703384 S 2026 1 0 TACR1 nsv520917 2 75202554 75220445 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694082 S 2026 1 0 TACR1 dgv32n64 2 75216694 75227773 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818050,nsv818049 M 112 0 2 TACR1 NA10830,NA12154 nsv525695 2 75216694 75234460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701854 S 2026 0 1 TACR1 nsv874300 2 75216694 75235899 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575950 S 6533 1 0 TACR1 IS33839 nsv874301 2 75216694 75357378 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518819 S 6533 1 0 TACR1 SP58215 dgv1200e1 2 75216931 75236218 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22614,esv1158,essv21481 M 271 0 0 TACR1 NA10830,NA12154 nsv438354 2 75220445 75225096 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471016 S 269 0 1 Samples from several populations that are part of the HapMap project. TACR1 NA12154 esv28202 2 75234559 75236392 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18005 S 451 0 6 TACR1 NA07037,NA11931,NA11993,NA12006,NA12239,NA15510 nsv10035 2 75237909 75241189 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28211,nssv28184,nssv27014,nssv26708,nssv28017,nssv28910,nssv28293,nssv26869,nssv28338,nssv27729,nssv26185,nssv28397,nssv28147,nssv28528,nssv27016,nssv26849 M 31 16 0 Samples from several populations that are part of the HapMap project. TACR1 NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA18502,NA18504,NA18563,NA18564,NA18853,NA18942,NA18972,NA19007,NA19173,NA19240 esv2489063 2 75240853 75241984 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222112 S 1 1 0 TACR1 NA18507 esv272151 2 75241381 75241707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557834,essv2540995,essv2571777,essv2521035,essv2536747,essv2544049,essv2570897,essv2545480,essv2523347,essv2548292,essv2576590,essv2535047,essv2554148,essv2544400,essv2552153,essv2520528,essv2529327,essv2558525,essv2564398,essv2577803,essv2559710,essv2576197,essv2555133,essv2530691,essv2537287,essv2528321,essv2540203,essv2520835,essv2562761,essv2569520,essv2550166,essv2536932,essv2539013,essv2527122,essv2544755,essv2523497,essv2553045,essv2542844,essv2540382,essv2524539,essv2534753,essv2549251,essv2519556,essv2531253,essv2532834,essv2528833,essv2567522,essv2541763,essv2563715,essv2553170,essv2535773,essv2572303,essv2558962,essv2550991,essv2568969,essv2543709,essv2527787,essv2562206,essv2539437,essv2534155,essv2573237,essv2555548,essv2566473,essv2573993,essv2531426,essv2573653,essv2543243,essv2573318,essv2577011,essv2525565,essv2526876,essv2529687,essv2575380,essv2574978,essv2538845,essv2526605,essv2560549,essv2524164,essv2574843,essv2572859,essv2568620,essv2560268,essv2546116,essv2574286,essv2551543,essv2536336,essv2537727,essv2548940,essv2532944,essv2554430,essv2547837,essv2524930,essv2563253 M 157 93 0 Samples from several populations that are part of the HapMap project. TACR1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11894,NA11920,NA11992,NA11993,NA12003,NA12004,NA12045,NA12154,NA12249,NA12287,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12814,NA12872,NA12873,NA12878,NA12891,NA18489,NA18498,NA18507,NA18508,NA18511,NA18517,NA18519,NA18522,NA18526,NA18537,NA18542,NA18550,NA18552,NA18555,NA18561,NA18564,NA18566,NA18573,NA18576,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18942,NA18945,NA18948,NA18951,NA18961,NA18964,NA18965,NA18969,NA18970,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19190,NA19239,NA19240,NA19257 esv274003 2 75241381 75241707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581659,essv2582507,essv2584596,essv2583286 M 7 4 0 Samples from several populations that are part of the HapMap project. TACR1 NA12878,NA12891,NA19239,NA19240 esv1335930 2 75241408 75241408 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346692 S 2 1 0 TACR1 HuRef nsv516509 2 75290690 75359507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668759,nssv685581,nssv684477,nssv683995 M 2026 0 4 "" nsv874302 2 75297581 75380569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569215 S 6533 0 1 "" IS31553 nsv2785 2 75307139 75340179 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7509 S 9 1 0 "" NA12156 esv2515339 2 75324098 75325754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243214 S 1 0 1 "" NA18507 nsv508093 2 75511646 75517646 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622347,nssv624275,nssv621525,nssv618543 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv2786 2 75524629 75556435 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10215 S 9 1 0 "" NA18956 dgv1201e1 2 75542913 75866331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv527,essv4119,essv12684,essv772 M 271 0 0 C2orf3,FAM176A,MRPL19 NA18500,NA18555,NA18956 esv259645 2 75631061 75666775 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393755 S 6 0 0 Samples from several populations that are part of the HapMap project. FAM176A NA19238 esv24046 2 75631248 75666551 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16541 S 451 1 0 FAM176A NA18858 nsv470470 2 75631476 75664263 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547222 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM176A HGDP01270 nsv818051 2 75631476 75664263 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416834 S 112 1 0 FAM176A NA19238 nsv458219 2 75631476 75668416 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535206 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM176A HGDP01270 nsv441761 2 75632488 75663776 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM176A dgv1202e1 2 75643997 75767409 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5856,essv3431 M 271 0 0 C2orf3,FAM176A,MRPL19 NA18555,NA18956 esv2359725 2 75656681 75657380 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958436 S 1 0 1 "" NA18507 nsv874303 2 75671997 75716440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534211 S 6533 1 0 "" MS11482 dgv5n43 2 75671997 75760859 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819582,nsv819814 M 2 1 0 C2orf3,MRPL19 AK1 dgv4169n71 2 75671997 75772156 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874305,nsv874306,nsv874304 M 6533 6 0 C2orf3,MRPL19 MS16846,SP50652,SP50921,SP52187,SP56023,SP56238 esv260037 2 75674450 75770777 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400360 S 144 0 0 Samples from several populations that are part of the HapMap project. C2orf3,MRPL19 NA18555 dgv152e55 2 75675010 75767453 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35142,esv34608 M 771 2 0 C2orf3,MRPL19 NA18555,NA18956 nsv441762 2 75675413 75767880 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C2orf3,MRPL19 dgv20n14 2 75676670 75768543 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433355,nsv433353 M 9 2 0 C2orf3,MRPL19 NA18555,NA18956 nsv2787 2 75690296 75711971 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7510 S 9 0 1 "" NA12156 nsv438356 2 75698135 75741668 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471017 S 269 0 1 Samples from several populations that are part of the HapMap project. MRPL19 NA18555 nsv834263 2 75698208 75861174 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441972 S 95 1 0 C2orf3,MRPL19 nsv514988 2 75713216 75770864 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628471 S 1414 0 0 C2orf3,MRPL19 nsv874307 2 75724524 75772156 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534212 S 6533 1 0 C2orf3,MRPL19 MS11482 nsv820029 2 75743025 75743307 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419659 S 2 1 0 "" AK1 nsv819219 2 75743257 75770598 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418710 S 2 1 0 C2orf3 AK1 esv992435 2 75752845 75752914 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567777 S 3 0 1 C2orf3 HuRef esv1703569 2 75752937 75753007 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736643 S 2 0 1 C2orf3 HuRef nsv213696 2 75752938 75753007 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232274 M 24 C2orf3 dgv4170n71 2 75827265 75864484 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874309,nsv874308 M 6533 3 0 "" SP51079,SP51244,SP81437 nsv874310 2 75827265 75901577 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504613 S 6533 1 0 "" SP52661 nsv834264 2 75848940 76022527 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441973 S 95 0 1 "" nsv818052 2 75960784 75966371 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416318 S 112 1 0 "" NA18855 esv991333 2 75969884 75978416 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564104 S 3 0 1 "" HuRef nsv528298 2 75983378 76017325 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704873 S 2026 0 1 "" esv267859 2 76003671 76003975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510291,essv2506751,essv2502285,essv2512403,essv2500596,essv2512875 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11918,NA12004,NA12043,NA18571,NA18609 esv267516 2 76111190 76111397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510090,essv2510992,essv2506764,essv2510349,essv2502553,essv2495074,essv2499601 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11829,NA11831,NA11918,NA12414,NA12750 nsv834265 2 76129119 76304236 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441979,nssv1441975,nssv1441977,nssv1441976,nssv1441978 M 95 5 0 "" esv1480851 2 76151068 76151128 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958592 S 2 0 1 "" HuRef esv1470109 2 76151258 76151318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693197 S 2 0 1 "" HuRef esv28735 2 76168249 76169175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12414 S 451 0 2 "" NA12828,NA12878 nsv523475 2 76186658 76196698 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699236 S 2026 1 0 "" esv27508 2 76190511 76191530 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17034 S 451 0 2 "" NA18861,NA19114 nsv515558 2 76190854 76191245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659751,nssv667576,nssv663898,nssv676085,nssv683619,nssv685208,nssv680151 M 2026 0 7 "" esv2472988 2 76231017 76232515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175610 S 1 0 1 "" NA18507 nsv874311 2 76242963 76346507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567636 S 6533 0 1 "" IS31137 nsv874312 2 76284449 76353585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505549 S 6533 0 1 "" SP53687 esv2547748 2 76379387 76383176 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210591 S 1 0 1 "" NA18507 esv2196179 2 76379819 76382597 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603110 S 1 0 1 "" NA18507 esv1001328 2 76379819 76385128 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564037 S 3 0 1 "" HuRef nsv511790 2 76379921 76382676 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626440 S 1 0 1 "" 1 esv4065 2 76379989 76382453 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26506 S 1 0 1 Single Asian sample YH "" YH esv1009005 2 76380006 76382400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576892 S 3 0 1 "" HuRef esv6936 2 76380019 76382398 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29377 S 1 0 1 "" SJK esv1555480 2 76380020 76382415 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681431 S 2 0 1 "" HuRef nsv519947 2 76391112 76442450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661188,nssv677474,nssv659594,nssv696402,nssv687005 M 2026 0 5 "" nsv874313 2 76393873 76444978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595858 S 6533 0 1 "" IS40346 dgv1203e1 2 76395428 76558862 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5546,essv8879,esv300,essv19498 M 271 0 0 "" NA12864,NA18508,NA18529 dgv4171n71 2 76401849 76467393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874314,nsv874316,nsv874315 M 6533 0 4 "" IS30141,IS31228,IS36131,IS41862 nsv874317 2 76407585 76744075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580406 S 6533 0 1 "" IS35297 esv3378 2 76410486 76410858 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25819 S 1 0 1 Single Asian sample YH "" YH esv8258 2 76410564 76410808 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30699 S 1 0 1 "" SJK esv989387 2 76410565 76410798 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566131 S 3 0 1 "" HuRef esv1697288 2 76410565 76410799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750888 S 2 0 1 "" HuRef nsv10045 2 76438778 76441779 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28387 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 esv9532 2 76618007 76618076 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31973 S 1 1 0 "" SJK esv1005528 2 76623180 76629972 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563494 S 3 0 1 "" HuRef esv2479042 2 76626406 76629733 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257753 S 1 0 1 "" NA18507 nsv511791 2 76626602 76629558 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626441 S 1 0 1 "" 1 dgv637n67 2 76626929 76629019 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829467,nsv829466 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820543 2 76626929 76629019 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420218 S 1 0 1 "" NA10851 esv2515011 2 76627020 76629020 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269333 S 1 0 1 "" NA18507 esv26482 2 76627234 76628943 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18953 S 451 15 0 "" NA06985,NA07045,NA11931,NA12004,NA12044,NA12776,NA15510,NA18502,NA18508,NA18858,NA18916,NA19108,NA19190,NA19225,NA19257 esv993508 2 76637609 76637609 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573235 S 3 1 0 "" HuRef nsv818053 2 76665286 76697974 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416319,nssv1417224 M 112 1 1 "" NA18576,NA18855 dgv1204e1 2 76691409 76713720 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5894,esv881 M 271 0 0 "" NA18576 esv28907 2 76698302 76698967 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21262 S 451 0 1 "" NA11993 esv274036 2 76707743 76707986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580792,essv2579656 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv874318 2 76782603 76809810 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591636,nssv1520966 M 6533 1 1 "" IS39011,SP51350 esv33650 2 76789248 76803071 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97156 S 51 0 1 "" 22075 dgv464n27 2 76793083 76802609 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458241,nsv458230 M 1557 0 2 "" HGDP00880,HGDP00899 nsv470471 2 76793083 76802609 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547224 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00880 nsv515527 2 76793083 76809810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674312,nssv687716,nssv669215,nssv667771,nssv697829,nssv663832,nssv674255 M 2026 0 7 "" esv1974019 2 76799927 76800325 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776145 S 1 0 1 "" NA18507 nsv874319 2 76802609 76832923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570425 S 6533 0 1 LRRTM4 IS32006 nsv507016 2 76812635 76818635 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623339 S 4 1 0 "" NA18994 esv2503033 2 76825126 76826556 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347628 S 1 0 1 "" NA18507 nsv874320 2 76825217 76867232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594316 S 6533 0 1 LRRTM4 IS39784 nsv458263 2 76830134 76848492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535227 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRTM4 HGDP01047 nsv520715 2 76875436 76933799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697571 S 2026 1 0 LRRTM4 dgv4172n71 2 76884755 76967457 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874321,nsv874325,nsv874323 M 6533 0 4 LRRTM4 MS10461,MS12719,MS17398,MS25675 dgv4173n71 2 76884755 77063258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874322,nsv874324 M 6533 0 2 LRRTM4 IS35572,IS39011 nsv214053 2 76888048 76888048 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232631 M 24 LRRTM4 nsv458274 2 76909391 76967457 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535238 S 1557 0 1 LRRTM4 1780862312_A nsv874326 2 76909391 77001769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568013 S 6533 0 1 LRRTM4 IS31187 nsv523910 2 76925651 76927759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699753 S 2026 0 1 LRRTM4 dgv4174n71 2 76939260 77063258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874327,nsv874330,nsv874328 M 6533 0 7 LRRTM4 IS31046,IS31330,IS31419,IS35742,IS36527,IS37226,IS38231 nsv525625 2 76949632 76967457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701774 S 2026 0 1 LRRTM4 nsv874329 2 76949632 77063258 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580165,nssv1589238,nssv1582312 M 6533 1 2 LRRTM4 IS35236,IS35911,IS38330 esv27593 2 76954310 76955393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18065 S 451 0 1 LRRTM4 NA18505 nsv834266 2 76973744 77141012 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441980 S 95 1 0 LRRTM4 nsv818054 2 77026201 77046273 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416912 S 112 0 1 LRRTM4 NA19137 dgv1205e1 2 77039364 77062559 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1217,essv6467 M 271 0 0 LRRTM4 NA18637 nsv10046 2 77039546 77041815 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28201 S 31 0 1 Samples from several populations that are part of the HapMap project. LRRTM4 NA18860 nsv519950 2 77066611 77109799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697142 S 2026 1 0 LRRTM4 nsv829468 2 77069956 77078041 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436423 S 31 0 1 LRRTM4 NA18542 nsv874331 2 77117862 77158631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537655 S 6533 0 1 LRRTM4 MS13292 nsv458285 2 77129709 77198999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535248 S 1557 0 1 LRRTM4 1780862355_A nsv874332 2 77142093 77240716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568097 S 6533 0 1 LRRTM4 IS31205 nsv523873 2 77151044 77154647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699715 S 2026 0 1 LRRTM4 nsv526121 2 77151044 77158631 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702371 S 2026 0 1 LRRTM4 nsv524535 2 77164105 77198160 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700485 S 2026 1 0 LRRTM4 nsv874333 2 77168857 77652394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569115 S 6533 1 0 LRRTM4 IS31419 nsv458296 2 77180340 77228288 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535257 S 1557 0 1 LRRTM4 1787431198_A nsv874334 2 77180340 77240716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575899 S 6533 0 1 LRRTM4 IS33839 nsv518504 2 77180340 78026294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695945 S 2026 0 1 LRRTM4 nsv2789 2 77193398 77237775 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4652 S 9 0 1 LRRTM4 NA19129 esv8705 2 77197144 77197221 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31146 S 1 1 0 LRRTM4 SJK nsv2790 2 77242571 77275420 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2267 S 9 1 0 LRRTM4 NA18555 nsv874335 2 77257620 77342008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589239 S 6533 1 0 LRRTM4 IS38330 nsv508094 2 77347219 77353219 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621526 S 4 0 1 LRRTM4 NA15510 esv2090944 2 77348198 77348635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835552 S 1 0 1 LRRTM4 NA18507 nsv874336 2 77369503 77422224 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564617 S 6533 1 0 LRRTM4 IS30265 esv2609871 2 77387252 77388967 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281907 S 1 0 1 LRRTM4 NA18507 nsv834267 2 77388007 77561844 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441981 S 95 0 1 LRRTM4 nsv470473 2 77417751 77487396 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547225 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRTM4 HGDP01216 nsv874337 2 77422224 77447635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594935 S 6533 0 1 LRRTM4 IS40067 nsv818055 2 77509668 77516772 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416913 S 112 0 1 LRRTM4 NA19137 esv27982 2 77511413 77512412 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9868 S 451 0 4 LRRTM4 NA18861,NA18909,NA19129,NA19240 nsv520560 2 77529392 77578065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697485 S 2026 0 1 LRRTM4 nsv2791 2 77536333 77571326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1505 S 9 1 0 LRRTM4 NA19240 nsv874338 2 77537070 77601021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541090 S 6533 0 1 LRRTM4 MS15199 nsv874339 2 77537070 77725705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567286 S 6533 0 1 LRRTM4 IS31067 nsv508095 2 77544178 77550178 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618544 S 4 0 1 LRRTM4 CHM nsv874340 2 77583522 77640017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554588 S 6533 0 1 LRRTM4 MS20872 nsv2792 2 77625059 77634389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1506 S 9 1 0 "" NA19240 nsv458330 2 77636348 77702389 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535280 S 1557 0 1 "" 1782681110_A nsv834268 2 77639710 77785564 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441982 S 95 1 0 "" nsv874341 2 77641404 77763071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551708 S 6533 0 1 "" MS18978 nsv829469 2 77642452 77642984 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427344 S 31 1 0 "" AK8 nsv829471 2 77642677 77643207 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425580 S 31 1 0 "" AK4 nsv874342 2 77648470 77687267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505031 S 6533 0 1 "" SP53041 nsv874343 2 77702389 77752553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551974 S 6533 0 1 "" MS19068 dgv1206e1 2 77708606 77955059 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv693,essv17340 M 271 0 0 "" NA18856 nsv874344 2 77711272 77833158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574343 S 6533 0 1 "" IS33545 nsv10047 2 77747103 77771066 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27033 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19007 nsv874345 2 77766278 78052776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569116 S 6533 1 0 SNAR-H IS31419 essv20936 2 77782625 77955059 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12801 nsv874346 2 77801496 77855074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545743 S 6533 1 0 "" MS16932 nsv10048 2 77808908 77811756 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28970 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv834270 2 77812362 77985636 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441983 S 95 1 0 "" essv636 2 77818381 77847723 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18998 nsv874347 2 77818833 77866776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568180 S 6533 1 0 "" IS31205 nsv874348 2 77818833 77871584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570330,nssv1571098,nssv1568421 M 6533 0 3 "" IS31285,IS31904,IS32607 dgv4175n71 2 77818833 77901722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874352,nsv874349 M 6533 0 6 "" IS31218,IS31306,IS31373,IS35771,IS38263,IS39716 dgv4176n71 2 77825291 77859102 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874351,nsv874350 M 6533 14 0 "" SP50128,SP51104,SP52399,SP52455,SP54636,SP54884,SP55747,SP55808,SP56012,SP56238,SP56248,SP56457,SP56842,SP80928 dgv465n27 2 77825291 77893174 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458352,nsv458341 M 1557 2 0 "" HGDP00491,HGDP00544 nsv10049 2 77828804 77842088 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27144 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 esv5213 2 77830206 77830673 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27654 S 1 0 1 Single Asian sample YH "" YH nsv441764 2 77830206 77850174 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514989 2 77830224 77847872 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628472 S 1414 0 0 "" esv8978 2 77830294 77830614 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31419 S 1 0 1 "" SJK nsv438357 2 77830770 77847723 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471018 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18998 nsv516149 2 77833158 77855074 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661410,nssv659634,nssv654920,nssv666497,nssv662167,nssv690531,nssv681552,nssv678555,nssv696723,nssv659991 M 2026 10 0 "" nsv470474 2 77841057 77882063 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547226 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 esv34214 2 77842953 77844353 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978302,essv6990220 M 771 1 0 "" NA18998 nsv518421 2 77843897 77947915 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695855 S 2026 1 0 "" nsv2793 2 77847128 77880270 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5794 S 9 1 0 "" NA19129 nsv874353 2 77855074 77951187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569435 S 6533 0 1 "" IS31581 nsv458363 2 77872852 77902273 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535306 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01318 nsv519956 2 77880806 77922982 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697145 S 2026 1 0 "" esv2598350 2 77898921 77899040 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203526 S 1 0 1 "" NA18507 nsv2794 2 77910626 77955726 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7511 S 9 0 1 "" NA12156 nsv874354 2 77914582 77971010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582069 S 6533 0 1 "" IS35788 esv2376717 2 77915448 77915844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965576 S 1 0 1 "" NA18507 esv1424830 2 77940588 77940664 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265936 S 2 0 1 "" HuRef esv2429112 2 77970675 77972176 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343654 S 1 0 1 "" NA18507 esv2348155 2 77971220 77972034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966086 S 1 0 1 "" NA18507 esv6161 2 77971390 77971864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28602 S 1 0 1 "" SJK essv12983 2 77979897 78332029 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNAR-H NA18859 dgv1207e1 2 77979897 78564540 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv867,essv7794 M 271 0 0 SNAR-H NA18558 nsv517285 2 78052776 78057835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653786,nssv687030 M 2026 0 2 "" nsv524980 2 78052776 78072334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701009 S 2026 0 1 "" essv13127 2 78053243 78238254 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18859 nsv525931 2 78057835 78068274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702136 S 2026 0 1 "" nsv524102 2 78074761 78415521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699977 S 2026 0 1 "" esv34750 2 78104653 78288353 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988265,essv6979906,essv6979907,essv6979908,essv6989128 M 771 0 1 "" NA18859 esv267447 2 78105108 78105455 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506818,essv2503843,essv2512617,essv2496765,essv2511900,essv2510524,essv2494198,essv2493234,essv2504310,essv2509850,essv2496449,essv2494695,essv2494919,essv2506257,essv2501055,essv2498523,essv2507053,essv2493957,essv2509164,essv2507446,essv2495485,essv2497856,essv2504799,essv2506494,essv2499197,essv2509620 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12761,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18519,NA18520,NA18523,NA18856,NA18858,NA18870,NA18871,NA18909,NA18912,NA18916,NA18945,NA19099,NA19108,NA19114,NA19129 esv34528 2 78110337 78468651 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989093,essv6979450,essv6979449,essv6988176 M 771 0 1 "" NA18558 nsv818057 2 78117391 78487388 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417203 S 112 0 1 "" NA18558 essv6862 2 78119456 78493754 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18558 nsv10052 2 78151536 78154477 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28357,nssv29067 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19132,NA19221 nsv458374 2 78155083 78186314 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535317 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00433 nsv2795 2 78193049 78225707 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5795 S 9 1 0 "" NA19129 nsv874355 2 78194753 78288338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548099 S 6533 0 1 "" MS17697 dgv4177n71 2 78220585 78400427 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874357,nsv874356 M 6533 0 2 "" IS41317,MS11981 nsv458385 2 78263516 78335832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535325 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00542 nsv470475 2 78263516 78335832 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547229,nssv547227,nssv547228 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00542,HGDP00544,HGDP00554 nsv213945 2 78272801 78272864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232523 M 24 "" nsv874358 2 78286002 78355068 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584621 S 6533 0 1 "" IS37098 esv2388880 2 78309671 78310054 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919062 S 1 0 1 "" NA18507 nsv834271 2 78373210 78564540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441984 S 95 1 0 "" nsv522260 2 78393174 79604099 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695040 S 2026 1 0 CTNNA2,REG1A,REG1B,REG1P,REG3A,REG3G dgv4178n71 2 78400427 78544576 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874359,nsv874360 M 6533 0 2 "" IS36219,SP50101 esv1004117 2 78411577 78411577 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574513 S 3 1 0 "" HuRef nsv214729 2 78411577 78411577 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233307 M 24 "" dgv4179n71 2 78436158 78556156 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874361,nsv874363 M 6533 0 2 "" IS31145,IS31419 nsv874362 2 78436158 78659360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532640 S 6533 0 1 "" MS10802 esv270019 2 78479814 78479899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513903 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv10053 2 78486263 78490266 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26386 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 dgv4180n71 2 78493754 78711378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874366,nsv874364 M 6533 0 3 "" IS39011,MS11031,MS24439 dgv4181n71 2 78511788 78671961 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874365,nsv874369,nsv874368 M 6533 0 3 "" IS30700,IS35229,IS41924 dgv4182n71 2 78511788 78866965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874367,nsv874370 M 6533 0 2 "" IS33533,MS25617 nsv829472 2 78543148 78547475 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429638 S 31 0 1 "" AK14 nsv441765 2 78555584 78575410 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515641 2 78556156 78570675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692941,nssv670401,nssv653264,nssv702164,nssv688864,nssv690257,nssv693720,nssv675295,nssv705612,nssv689857,nssv651931,nssv667657,nssv686978,nssv658384,nssv693832,nssv683344,nssv680016,nssv669848,nssv653410 M 2026 0 19 "" nsv818058 2 78556156 78570675 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415615 S 112 0 1 "" NA12249 nsv874371 2 78568486 78659360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570265 S 6533 0 1 "" IS31849 nsv458396 2 78596629 78636272 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535330 S 1557 0 1 "" 1780854477_A esv4750 2 78601970 78602207 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27191 S 1 0 1 Single Asian sample YH "" YH nsv874372 2 78610312 78711378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566981 S 6533 0 1 "" IS31041 esv2243553 2 78639308 78639834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816752 S 1 0 1 "" NA18507 esv4038 2 78639440 78639704 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26479 S 1 0 1 Single Asian sample YH "" YH esv1920038 2 78673690 78674172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818755 S 1 0 1 "" NA18507 nsv527755 2 78753777 78773669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704242 S 2026 0 1 "" nsv521219 2 78760434 78773669 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697851 S 2026 1 0 "" nsv874373 2 78768345 78864416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515257 S 6533 1 0 "" SP56143 nsv508843 2 78768590 78794790 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618005 S 4 1 0 "" CHM esv270629 2 78818896 78818981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514673,essv2514177,essv2514844,essv2515368,essv2515063,essv2515757,essv2517923,essv2516133,essv2514266,essv2517605,essv2516231,essv2516880,essv2519452 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12043,NA12234,NA12249,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892 esv272568 2 78818903 78819227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582213,essv2582766,essv2582931 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv990615 2 78818917 78818917 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580026 S 3 1 0 "" HuRef esv23301 2 78830168 78832423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14858 S 451 0 1 "" NA19240 nsv834272 2 78910398 79076984 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441986 S 95 0 1 "" nsv214416 2 78911167 78911502 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232994 M 24 "" nsv508150 2 78924094 78949194 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622812,nssv617460 M 4 0 2 "" CHM,NA18994 nsv511163 2 78928609 78938919 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626144 S 1 0 1 "" 1 nsv435717 2 78928658 78934727 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465907 S 2 0 1 "" NA15510 nsv511792 2 78929734 78935392 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626442 S 1 0 1 "" 1 dgv638n67 2 78929956 78935440 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829476,nsv829473,nsv829475,nsv829474 M 31 0 15 "" AK10,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18582,NA18942,NA18951,NA18968,NA18997 esv24355 2 78930135 78934798 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19793 S 451 0 14 "" NA06985,NA07037,NA11894,NA11993,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18858 nsv514076 2 78931424 78934472 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628425 S 1414 0 1 "" nsv526388 2 78941336 79036329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702686 S 2026 0 1 "" nsv874374 2 79052128 79090122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597402,nssv1588442,nssv1596458,nssv1595501 M 6533 0 4 "" IS38199,IS40240,IS40521,IS40801 esv28366 2 79094903 79096467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18461 S 451 0 1 "" NA19099 nsv508844 2 79143727 79200279 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623869 S 4 1 0 REG1B NA18994 nsv2796 2 79162524 79202132 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9570,nssv5796 M 9 0 2 REG1A,REG1B NA18507,NA19129 nsv528480 2 79176921 79196064 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705083 S 2026 1 0 "" nsv516978 2 79179723 79196064 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661411,nssv677362,nssv663287,nssv694428,nssv690046,nssv671853,nssv675639,nssv671177,nssv691539,nssv653370,nssv687587,nssv676264,nssv658881,nssv678944,nssv686531,nssv687364,nssv660738,nssv691385,nssv677450,nssv681124,nssv661685,nssv653544,nssv659752,nssv670247,nssv671587,nssv665362 M 2026 8 18 "" esv2421849 2 79182654 79196064 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5034511,essv5028697,essv5011465,essv5080667,essv5021645,essv5006839,essv5003430,essv5039130,essv5072873,essv5091424,essv5153206,essv5016053,essv5089964,essv5018928,essv5111674,essv5018858,essv5082645,essv5007139,essv5027728,essv5021891,essv5102782,essv5002292,essv5037044,essv5160980,essv5078420,essv5013129,essv5073788,essv5145165,essv5111383,essv5053647,essv5087764,essv5149604,essv5091757,essv5042646,essv5064766,essv5020047,essv5148873,essv5086359,essv5066058,essv5098265,essv5025816,essv5071349,essv5078117,essv5159433,essv5033704,essv5059927,essv5056494,essv5151662,essv5156890,essv5029321,essv5119885,essv5109429,essv5104183,essv5136818,essv5041143,essv5050569,essv5028732,essv5032657,essv5139635,essv5134296,essv5093641,essv5132724,essv5112790,essv5051574,essv5114954,essv5119812,essv5031362,essv5011466,essv5058848,essv5081802,essv5020330,essv5045583,essv5070623,essv5155525,essv5014872,essv5131702,essv5158714,essv5154521,essv5099965,essv5120407,essv5049334,essv5102442,essv5094925,essv5151110,essv5007552,essv5108613,essv5065325,essv5082229,essv5132575,essv5019629,essv5081906,essv5116192,essv5073448,essv5131977,essv5133799,essv5109219,essv5035589,essv5047190,essv5055800,essv5135842,essv5104308,essv5009190,essv5119821,essv5040631,essv5133778,essv5078226,essv5156280,essv5078102,essv5149051,essv5098350 M 1184 75 35 "" NA07014,NA07031,NA10843,NA11920,NA11994,NA12248,NA12335,NA12340,NA12802,NA12814,NA12815,NA12889,NA18101,NA18109,NA18139,NA18147,NA18150,NA18160,NA18488,NA18497,NA18498,NA18506,NA18507,NA18517,NA18529,NA18542,NA18559,NA18561,NA18572,NA18593,NA18595,NA18596,NA18602,NA18611,NA18626,NA18627,NA18631,NA18674,NA18745,NA18952,NA18956,NA18959,NA18961,NA18966,NA18968,NA18971,NA18972,NA18973,NA18994,NA18997,NA18998,NA19007,NA19010,NA19038,NA19062,NA19070,NA19074,NA19076,NA19077,NA19081,NA19084,NA19096,NA19128,NA19129,NA19175,NA19182,NA19183,NA19206,NA19207,NA19226,NA19318,NA19399,NA19429,NA19471,NA19708,NA19711,NA19712,NA19794,NA19834,NA19836,NA19914,NA19915,NA20284,NA20322,NA20334,NA20335,NA20506,NA20520,NA20538,NA20541,NA20544,NA20588,NA20757,NA20758,NA20761,NA20775,NA20787,NA20799,NA20800,NA20807,NA20885,NA20887,NA20903,NA21307,NA21352,NA21424,NA21439,NA21513,NA21514,NA21583 esv2554981 2 79183134 79193184 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179895 S 1 0 1 "" NA18507 esv260005 2 79183584 79197373 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399122,essv2396070,essv2399895,essv2395558,essv2398943,essv2396174,essv2400821,essv2397763,essv2394544,essv2395815 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA18537,NA18561,NA18593,NA18603,NA18944,NA18952,NA18956,NA18959,NA18961 dgv639n67 2 79183700 79197690 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829478,nsv829477,nsv829479 M 31 12 0 "" AK10,AK12,AK14,AK18,AK2,AK20,AK4,NA18537,NA18542,NA18968,NA18973,NA18997 nsv821365 2 79183700 79197690 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420219 S 1 0 1 "" NA10851 nsv442770 2 79184286 79195607 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514077 2 79184288 79195496 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628436 S 1414 1 0 "" esv2459162 2 79184336 79193643 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187683 S 1 0 1 "" NA18507 esv2036318 2 79184901 79193226 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723063 S 1 0 1 "" NA18507 nsv498926 2 79185033 79193091 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585787 S 9 0 1 "" esv24475 2 79185041 79193270 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13094 S 451 0 2 "" NA18517,NA19129 nsv433199 2 79185591 79192437 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463080 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18507 nsv818059 2 79185591 79192437 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417363,nssv1416426,nssv1417103,nssv1417157 M 112 3 1 "" NA18517,NA18529,NA18542,NA18612 nsv818060 2 79185591 79196064 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417675,nssv1417435,nssv1417562,nssv1417135,nssv1417588 M 112 5 0 "" NA18537,NA18952,NA18971,NA18972,NA18994 nsv2797 2 79191766 79193067 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10216 S 9 1 0 "" NA18956 esv2511177 2 79260568 79262185 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203599 S 1 0 1 "" NA18507 esv2361666 2 79261384 79261969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780987 S 1 0 1 "" NA18507 nsv2798 2 79503802 79535782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1507 S 9 1 0 "" NA19240 nsv458407 2 79604099 79664825 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535341 S 1557 0 1 CTNNA2 NINDS_160 nsv874375 2 79614370 79666704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561673,nssv1593347 M 6533 0 2 CTNNA2 IS39414,MS25181 nsv874376 2 79662790 79699160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536252 S 6533 0 1 CTNNA2 MS12662 nsv433201 2 79737079 79743852 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463082 S 9 0 1 CTNNA2 NA15510 nsv518912 2 79738544 79741338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694288 S 2026 0 1 CTNNA2 nsv527416 2 79747652 79754603 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703854 S 2026 1 0 CTNNA2 nsv829480 2 79753257 79753715 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425583 S 31 1 0 CTNNA2 AK4 nsv528724 2 79763857 79784647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705378 S 2026 0 1 CTNNA2 nsv2800 2 79773645 79800639 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1508 S 9 1 0 CTNNA2 NA19240 esv274326 2 79782863 79782948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581267 S 7 1 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA19240 nsv528619 2 79785802 79791408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705248 S 2026 0 1 CTNNA2 esv34179 2 79885198 80285398 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CTNNA2 nsv874377 2 79888880 79935364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556677 S 6533 0 1 CTNNA2 MS22109 nsv2801 2 79919134 79953673 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4426 S 9 1 0 CTNNA2 NA12878 esv272699 2 79974045 79974130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581094 S 7 1 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA19240 esv27488 2 79996337 79998572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15831 S 451 0 1 CTNNA2 NA19240 nsv874378 2 80029111 80041987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523644 S 6533 1 0 CTNNA2 SP54119 nsv516404 2 80029654 80029819 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662297,nssv691986,nssv668105 M 2026 3 0 CTNNA2 nsv524592 2 80029654 80029933 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700551 S 2026 1 0 CTNNA2 nsv437287 2 80081198 80084980 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467168 S 60 0 1 Samples from several populations that are part of the HapMap project. CTNNA2 NA19208 nsv458418 2 80114681 80142720 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535352 S 1557 0 1 CTNNA2 NINDS_54 nsv874379 2 80196018 80288147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595531 S 6533 0 1 CTNNA2 IS40247 dgv1208e1 2 80254829 80549390 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11527,essv17002 M 271 0 0 CTNNA2,LRRTM1 NA19144,NA19173 dgv1209e1 2 80254829 80695972 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv451,essv17150 M 271 0 0 CTNNA2,LRRTM1 NA19171 nsv516819 2 80317361 80318641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652221,nssv692033,nssv667028,nssv664900,nssv687752,nssv653463,nssv654729,nssv655754,nssv685981,nssv680596 M 2026 0 10 CTNNA2 esv6333 2 80379114 80379211 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28774 S 1 1 0 CTNNA2 SJK nsv528317 2 80396255 80398998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704897 S 2026 0 1 CTNNA2 dgv1210e1 2 80399789 80549390 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10955,essv12291,essv14512,essv16827 M 271 0 0 CTNNA2 NA19138,NA19202,NA19205,NA19209 essv7177 2 80399789 80695972 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA18547 dgv466n27 2 80473718 80521451 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458441,nsv458429 M 1557 0 2 CTNNA2 1780862484_A,HGDP00964 esv269813 2 80476518 80476842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517101 S 157 1 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA11931 nsv874380 2 80565100 80624701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591959 S 6533 0 1 CTNNA2 IS39116 nsv818061 2 80609812 80624701 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416320 S 112 1 0 CTNNA2 NA18855 nsv10054 2 80617069 80622204 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28437 S 31 0 1 Samples from several populations that are part of the HapMap project. CTNNA2 NA18564 nsv829482 2 80619604 80621068 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440206 S 31 0 1 CTNNA2 NA18564 esv272281 2 80622503 80622797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581654,essv2583195,essv2584330,essv2583398 M 7 4 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA12878,NA12892,NA19238,NA19240 esv268628 2 80622503 80622799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540939,essv2526305,essv2544091,essv2556554,essv2568137,essv2545400,essv2523392,essv2531693,essv2548580,essv2521614,essv2576830,essv2550353,essv2535121,essv2544306,essv2520720,essv2529261,essv2558358,essv2577666,essv2553692,essv2520003,essv2555012,essv2530601,essv2537307,essv2546780,essv2540030,essv2551889,essv2532427,essv2569489,essv2578659,essv2536984,essv2569745,essv2527396,essv2553105,essv2540410,essv2534552,essv2549435,essv2559811,essv2567737,essv2528797,essv2567486,essv2570256,essv2563857,essv2553420,essv2535710,essv2572348,essv2559172,essv2566955,essv2542135,essv2569000,essv2543540,essv2527914,essv2562150,essv2534028,essv2573265,essv2533681,essv2529870,essv2573811,essv2573589,essv2543130,essv2538484,essv2526683,essv2524218,essv2560863,essv2574754,essv2530327,essv2545249,essv2549879,essv2571379,essv2574473,essv2536351,essv2538088,essv2548975,essv2547805,essv2563383,essv2558098 M 157 75 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA06986,NA07000,NA07037,NA07347,NA10847,NA10851,NA11831,NA11918,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12045,NA12144,NA12154,NA12234,NA12249,NA12414,NA12716,NA12749,NA12750,NA12761,NA12763,NA12815,NA12872,NA12873,NA12878,NA12892,NA18489,NA18504,NA18505,NA18508,NA18510,NA18517,NA18520,NA18522,NA18542,NA18552,NA18561,NA18564,NA18570,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18907,NA18909,NA18916,NA18942,NA18944,NA18949,NA18951,NA18964,NA18965,NA19108,NA19114,NA19129,NA19137,NA19138,NA19141,NA19172,NA19225,NA19238,NA19240 nsv10055 2 80643821 80646137 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28841 S 31 1 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA18517 nsv10056 2 80656499 80659094 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28102 S 31 0 1 Samples from several populations that are part of the HapMap project. CTNNA2 NA18942 esv22845 2 80704102 80705987 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20510 S 451 0 1 CTNNA2 NA07045 esv270971 2 80715129 80715388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496706,essv2496806,essv2504109,essv2497245,essv2508233,essv2500078,essv2510087,essv2504903,essv2511100,essv2512334,essv2493091,essv2500801,essv2505639,essv2497559 M 157 14 0 Samples from several populations that are part of the HapMap project. CTNNA2 NA11894,NA18498,NA18505,NA18552,NA18561,NA18573,NA18593,NA18942,NA18944,NA18949,NA18951,NA18973,NA19005,NA19147 esv2597884 2 80731258 80732725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340109 S 1 0 1 "" NA18507 nsv834273 2 80828915 81001459 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441989,nssv1441988,nssv1441987 M 95 2 1 "" esv1114152 2 80847999 80848065 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325869 S 2 0 1 "" HuRef esv269869 2 80889005 80889362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493364,essv2511836,essv2494312,essv2497103 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12776,NA18499,NA18502,NA19190 esv988589 2 80928173 80928173 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568139 S 3 1 0 "" HuRef esv1149541 2 80928175 80928175 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896824 S 2 1 0 "" HuRef esv2172938 2 80976202 80976652 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598153 S 1 0 1 "" NA18507 nsv874381 2 81010556 81113560 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526155,nssv1521936,nssv1522242 M 6533 3 0 "" SP52648,SP52859,SP57049 esv1461309 2 81012719 81012719 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642368 S 2 1 0 "" HuRef esv1400659 2 81012906 81012970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268858 S 2 0 1 "" HuRef nsv516232 2 81088888 81095322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666971,nssv658016 M 2026 0 2 "" nsv520106 2 81088888 81113560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697226 S 2026 0 1 "" nsv834274 2 81127914 81319867 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441990 S 95 0 1 "" nsv520709 2 81279994 81300586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697568 S 2026 0 1 "" dgv4183n71 2 81348403 81588303 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874382,nsv874384 M 6533 2 0 "" MS10685,SP81033 nsv874383 2 81362633 81455397 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514120 S 6533 1 0 "" SP55946 nsv516939 2 81376544 81408438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687088,nssv657721,nssv655065,nssv674256,nssv656514,nssv704737,nssv691263,nssv663652,nssv684955,nssv678222 M 2026 0 10 "" dgv4184n71 2 81428269 82143271 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874389,nsv874388,nsv874385 M 6533 3 0 "" MS10685,SP53252,SP81033 esv2290334 2 81458213 81458629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909630 S 1 0 1 "" NA18507 nsv874386 2 81467512 81588303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565264 S 6533 0 1 "" IS30378 nsv508096 2 81520035 81526035 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622348 S 4 0 1 "" NA10860 nsv874387 2 81543727 81640747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574344 S 6533 0 1 "" IS33545 dgv1211e1 2 81613199 81669805 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv907,essv12032 M 271 0 0 "" NA19116 nsv508097 2 81621981 81627981 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622349 S 4 0 1 "" NA10860 esv27634 2 81665616 81670342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20422 S 451 0 1 "" NA19190 nsv514078 2 81665664 81669608 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628447 S 1414 0 1 "" esv2421792 2 81665692 81669805 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156533,essv5035106,essv5062069,essv5044215,essv5148933,essv5122154,essv5137429,essv5004977,essv5141591,essv5033867,essv5116964,essv5118773,essv5097497,essv5040879,essv5135808,essv5081283,essv5100087,essv5085245,essv5098159 M 1184 0 19 "" NA18486,NA18933,NA19116,NA19120,NA19121,NA19130,NA19190,NA19191,NA19214,NA19215,NA19223,NA19224,NA19226,NA19360,NA19713,NA20332,NA20333,NA20343,NA21650 nsv441766 2 81665692 81669805 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv10057 2 81692690 81694214 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26559 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv834275 2 81731126 81946692 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441991,nssv1441992 M 95 0 2 "" esv269308 2 81784430 81784774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518765,essv2516022,essv2519448 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12045,NA12873 esv271590 2 81794561 81794906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514554,essv2516104 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12873 nsv874390 2 81800372 81858970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575612 S 6533 0 1 "" IS33786 esv275152 2 81844423 81845572 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585937 S 1250 0 1 "" nsv874391 2 81853125 81952011 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594570 S 6533 1 0 "" IS39940 esv274615 2 81928675 81928875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580584,essv2579102 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 nsv2802 2 81933144 81974345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4427,nssv5798,nssv3024 M 9 3 0 "" NA12878,NA18555,NA19129 nsv508845 2 81950676 81955122 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619907 S 4 1 0 "" NA10860 nsv508846 2 81966146 82001246 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621170 S 4 1 0 "" NA15510 nsv508098 2 81998246 82004246 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622350 S 4 0 1 "" NA10860 esv2751901 2 82041430 82161943 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987428,essv6983820,essv6988718 M 771 1 0 "" BEC_630 dgv467n27 2 82042005 82161943 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458452,nsv458463 M 1557 2 0 "" 1780862461_A,HGDP01166 esv269500 2 82047671 82047835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496649,essv2501700,essv2505567,essv2504094,essv2502666,essv2505598,essv2504810,essv2506667 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12144,NA12154,NA18505,NA18965,NA19005,NA19099,NA19108 nsv515923 2 82061269 82161943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665319,nssv668831,nssv655969,nssv693379 M 2026 4 0 "" nsv874392 2 82080763 82143271 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514121 S 6533 1 0 "" SP55946 nsv874393 2 82101912 82211001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593549 S 6533 0 1 "" IS39450 nsv874394 2 82101912 82258625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556298 S 6533 0 1 "" MS21905 nsv508151 2 82132866 82136730 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619032 S 4 0 1 "" NA10860 dgv4185n71 2 82185384 82249722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874396,nsv874395 M 6533 0 2 "" IS30143,IS41934 nsv821625 2 82191241 82901637 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421268,nssv1421279 M 31 0 2 "" esv2547122 2 82193127 82194696 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295673 S 1 0 1 "" NA18507 nsv511793 2 82193259 82196132 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626444 S 1 0 1 "" 1 dgv15e194 2 82193765 82194486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2409782,esv2125111 M 1 0 1 "" NA18507 esv2879 2 82193858 82194346 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25320 S 1 0 1 Single Asian sample YH "" YH esv8420 2 82193969 82194275 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30861 S 1 0 1 "" SJK esv1287041 2 82193972 82194292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085339 S 2 0 1 "" HuRef nsv874397 2 82213957 82276290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556725 S 6533 0 1 "" MS22146 dgv4186n71 2 82213957 82300925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874399,nsv874398 M 6533 0 2 "" IS32891,IS41862 esv2650322 2 82215085 82216414 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170108 S 1 0 1 "" NA18507 esv2244709 2 82215601 82216148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610422 S 1 0 1 "" NA18507 esv1203366 2 82215804 82216000 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313060 S 2 0 1 "" HuRef esv270561 2 82232696 82232781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516966 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 dgv4187n71 2 82263973 82353387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874400,nsv874401 M 6533 0 2 "" IS37730,MS15312 nsv874402 2 82286499 82342863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513915 S 6533 0 1 "" SP55878 esv272372 2 82521142 82521366 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580983 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv10058 2 82553120 82559779 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27829 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv834276 2 82556389 82704520 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441993 S 95 1 0 "" nsv874403 2 82587899 82734018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553652 S 6533 0 1 "" MS20237 dgv4188n71 2 82605321 82832076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874405,nsv874404,nsv874406 M 6533 0 3 "" IS31330,IS33491,IS34599 esv2063673 2 82610486 82611113 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572769 S 1 0 1 "" NA18507 nsv874407 2 82671859 82753554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582651 S 6533 0 1 "" IS36067 dgv4189n71 2 82720858 82832076 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874408,nsv874409 M 6533 0 3 "" IS31285,MS18620,MS22104 nsv874410 2 82734018 82782177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537540 S 6533 0 1 "" MS13241 dgv4190n71 2 82753554 82822602 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874411,nsv874412 M 6533 0 2 "" MS13426,MS19852 nsv874413 2 82758889 82822602 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567539 S 6533 1 0 "" IS31113 dgv4191n71 2 82791206 82858244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874414,nsv874416 M 6533 0 2 "" MS24073,SP58537 nsv874415 2 82793397 82893868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598458 S 6533 0 1 "" IS41317 nsv874417 2 82811461 82961206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563123 S 6533 1 0 LOC1720 MS25870 esv2373352 2 82813378 82814112 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908810 S 1 0 1 "" NA18507 esv269456 2 82823428 82823624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499425,essv2508375,essv2504211,essv2502935,essv2495552,essv2503116,essv2497867,essv2493132,essv2502616,essv2506519,essv2499708 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA12749,NA18505,NA18507,NA18916,NA18943,NA18945,NA18951,NA18965,NA19108,NA19225 nsv874418 2 82874061 82935595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600286 S 6533 0 1 "" IS41867 nsv874419 2 82874061 83532971 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525441 S 6533 0 1 LOC1720 SP56582 nsv10059 2 82882426 82893656 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26560 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 esv2501390 2 82888786 82890410 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197540 S 1 0 1 "" NA18507 esv2220642 2 82888984 82890106 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804886 S 1 0 1 "" NA18507 esv25275 2 82889186 82889939 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14662 S 451 2 1 "" NA18909,NA19099,NA19190 nsv821522 2 82889186 82889939 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420220 S 1 0 1 "" NA10851 esv2933 2 82914746 82915215 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25374 S 1 0 1 Single Asian sample YH "" YH esv1138517 2 82967743 82967743 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821392 S 2 1 0 "" HuRef esv1460823 2 82967754 82967754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794551 S 2 1 0 "" HuRef nsv829483 2 82969789 82970273 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427346 S 31 1 0 "" AK8 dgv4192n71 2 82977169 83186494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874421,nsv874420 M 6533 0 2 "" IS31205,MS21717 nsv458474 2 83004834 83081762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535408 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00552 nsv2803 2 83026618 83051820 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5799 S 9 1 0 "" NA19129 nsv510940 2 83034052 83043271 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624374 S 4 0 0 "" NA18994 nsv508848 2 83040265 83043271 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619908 S 4 1 0 "" NA10860 esv274414 2 83041807 83045760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580790 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268323 2 83041807 83045774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503198,essv2495291,essv2499397,essv2505147,essv2508025,essv2502314,essv2499470,essv2508091,essv2513233,essv2508522,essv2502561,essv2502773,essv2510772,essv2493325,essv2496500,essv2498315,essv2500409,essv2497248,essv2500005,essv2504546,essv2507821,essv2511271,essv2507631,essv2508701,essv2505229,essv2505808,essv2507093,essv2493915,essv2511119,essv2512353,essv2502739,essv2512830,essv2507002,essv2506657,essv2510853,essv2509608,essv2493527,essv2497635,essv2510398,essv2493890,essv2501760,essv2498203,essv2511503,essv2499548 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA11881,NA11992,NA11994,NA11995,NA12003,NA12004,NA12044,NA12045,NA12249,NA12717,NA12750,NA12892,NA18501,NA18504,NA18510,NA18526,NA18537,NA18552,NA18558,NA18563,NA18564,NA18570,NA18576,NA18592,NA18853,NA18861,NA18870,NA18871,NA18944,NA18949,NA18965,NA18980,NA19102,NA19108,NA19116,NA19129,NA19137,NA19147,NA19172,NA19210,NA19239,NA19240 nsv214014 2 83050215 83050215 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232592 M 24 "" dgv468n27 2 83080766 83203715 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458540,nsv458507,nsv458485,nsv458518,nsv458529,nsv458496 M 1557 0 6 "" 1780854261_A,1780862042_A,1780862176_A,1780862432_A,1782681317_A,NINDS_44 dgv4193n71 2 83081762 83154608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874423,nsv874422 M 6533 0 3 "" IS31879,IS41634,MS10098 nsv874424 2 83081762 83186494 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582313,nssv1565760,nssv1581356,nssv1589240,nssv1579257,nssv1567489 M 6533 1 5 "" IS30522,IS31094,IS35083,IS35572,IS35911,IS38330 dgv4194n71 2 83081762 83210688 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874428,nsv874427,nsv874425,nsv874426 M 6533 0 6 "" IS32006,IS32615,IS40067,IS41791,MS12071,SP56004 esv22396 2 83089320 83717524 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17680 S 451 0 1 "" NA06985 esv2246731 2 83095379 83095800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702391 S 1 0 1 "" NA18507 dgv1212e1 2 83102361 83818273 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19345,esv653,essv22339 M 271 0 0 "" NA06985 esv34966 2 83104053 83676553 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980241,essv6987743,essv6987744,essv6989158 M 771 0 1 "" NA06985 nsv818062 2 83104097 83698980 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415894 S 112 0 1 "" NA06985 nsv523108 2 83104124 83139248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698805 S 2026 0 1 "" dgv4195n71 2 83104124 83203715 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874430,nsv874431,nsv874429,nsv874432,nsv874433 M 6533 0 12 "" IS30597,IS30899,IS31067,IS31137,IS31563,IS31581,IS31729,IS41224,IS41317,MS11467,MS22104,MS23290 dgv4196n71 2 83120708 83191221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874435,nsv874434 M 6533 0 3 "" IS31054,IS31419,IS38235 nsv10060 2 83152156 83154300 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28251 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv525554 2 83189326 83397509 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701693 S 2026 0 1 "" nsv874436 2 83237213 83956218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516202 S 6533 0 1 "" SP56549 nsv874437 2 83250714 83586436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597634,nssv1571262 M 6533 0 2 "" IS32664,IS40854 nsv214480 2 83252962 83253012 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233058 M 24 "" esv2751902 2 83273184 83451071 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984463,essv6984464,essv6984465,essv6984466,essv6984467 M 771 1 0 "" BEC_708 dgv4197n71 2 83276042 83460931 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874441,nsv874438,nsv874442,nsv874440 M 6533 0 5 "" IS31137,IS31145,IS31205,IS35127,IS35572 nsv874439 2 83283340 83340881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570477 S 6533 0 1 "" IS32150 dgv4198n71 2 83350766 83454796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874444,nsv874443 M 6533 0 3 "" IS31306,MS17114,MS17697 dgv4199n71 2 83364378 83460931 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874445,nsv874446,nsv874448 M 6533 0 3 "" IS30838,IS33533,MS18620 dgv4200n71 2 83369435 83557475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874449,nsv874447 M 6533 0 2 "" IS30522,IS34599 nsv874450 2 83399672 83643627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582419 S 6533 0 1 "" IS35949 esv2492544 2 83420031 83423707 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354761 S 1 0 1 "" NA18507 esv1669343 2 83421585 83421585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021487 S 2 1 0 "" HuRef esv1439681 2 83423209 83423209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361938 S 2 1 0 "" HuRef nsv520142 2 83443853 83536609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697245 S 2026 0 1 "" nsv874451 2 83475672 83557475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571099 S 6533 0 1 "" IS32607 nsv874452 2 83568068 84063577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516942 S 6533 0 1 "" SP56987 esv1436446 2 83576283 83576357 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613174 S 2 0 1 "" HuRef nsv2804 2 83614398 83643385 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4428 S 9 1 0 "" NA12878 nsv10061 2 83641360 83645835 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26391 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv524298 2 83648747 83659765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700199 S 2026 0 1 "" esv2570344 2 83684925 83685826 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322463 S 1 1 0 "" NA18507 esv271007 2 83685209 83685294 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516958,essv2518808,essv2518516,essv2515698,essv2515977,essv2514492,essv2517353 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12045,NA12287,NA12815,NA12873,NA12874,NA18970 esv1645926 2 83685236 83685236 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031569 S 2 1 0 "" HuRef nsv874453 2 83723408 83802454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531893 S 6533 0 1 "" MS10695 nsv2805 2 83743536 83788598 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7512 S 9 0 1 "" NA12156 nsv507017 2 83758288 83764288 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620718,nssv617565,nssv621997,nssv623340 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1001986 2 83825519 83835761 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564199 S 3 0 1 "" HuRef nsv874454 2 83869009 83928186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565093 S 6533 0 1 "" IS30363 dgv6n43 2 83892329 84167539 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819730,nsv819091 M 2 1 0 "" AK1 nsv2806 2 83898571 83930868 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1509 S 9 1 0 "" NA19240 nsv520065 2 83934426 83939152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697203 S 2026 0 1 "" esv27089 2 83954439 83960214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18395 S 451 0 3 "" NA18505,NA19108,NA19225 esv2366854 2 83964294 83964781 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914262 S 1 0 1 "" NA18507 nsv213371 2 84028371 84033479 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231949 M 24 "" nsv834277 2 84036188 84217128 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441994 S 95 1 0 "" nsv523019 2 84076465 84468983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698696 S 2026 0 1 FUNDC2P2 esv269172 2 84111239 84111513 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2555071,essv2563305 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12872 nsv521750 2 84124133 84183814 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694518 S 2026 1 0 "" esv259759 2 84207011 84208073 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394849 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA19114 nsv2807 2 84233729 84266844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7513 S 9 1 0 "" NA12156 esv1638514 2 84277900 84278047 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633197 S 2 0 1 "" HuRef esv1144803 2 84278056 84278264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294752 S 2 0 1 "" HuRef nsv214623 2 84278124 84278212 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233201 M 24 "" esv3321 2 84286013 84286406 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25762 S 1 0 1 Single Asian sample YH "" YH esv6115 2 84289039 84289105 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28556 S 1 1 0 "" SJK esv268018 2 84443622 84443882 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521369,essv2550259,essv2554043,essv2530829 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12234,NA12287,NA12873 esv1391405 2 84443657 84443657 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259305 S 2 1 0 "" HuRef esv271756 2 84497042 84497214 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496687,essv2512634,essv2493252,essv2509945,essv2507606,essv2505288,essv2498637,essv2509196,essv2495513,essv2504808,essv2506656,essv2497014,essv2499619,essv2501820,essv2498043 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA18489,NA18504,NA18508,NA18576,NA18853,NA18858,NA18909,NA18916,NA19099,NA19108,NA19190,NA19225,NA19239,NA19240 esv274037 2 84497057 84497273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580953 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv874455 2 84568339 84848619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577857 S 6533 0 1 DNAH6 IS34599 esv2600181 2 84581838 84582836 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249441 S 1 1 0 "" NA18507 esv272056 2 84582230 84582566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516655,essv2517453,essv2517113,essv2514081,essv2518652,essv2514832,essv2515384,essv2518604,essv2518104,essv2516035,essv2514314,essv2517652,essv2515805,essv2518978,essv2513775,essv2518303,essv2519399 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11918,NA11931,NA12043,NA12045,NA12234,NA12249,NA12287,NA12872,NA12873,NA12874,NA12878,NA18969,NA19141,NA19143,NA19240 esv272417 2 84582230 84582566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581554,essv2581269 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1037678 2 84582266 84582266 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592772 S 2 1 0 "" HuRef dgv1213e1 2 84584965 84737053 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv347,essv14432 M 271 0 0 DNAH6 NA19201 esv2605698 2 84611341 84612839 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178989 S 1 0 1 DNAH6 NA18507 esv2076728 2 84611764 84612442 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870458 S 1 0 1 DNAH6 NA18507 esv4558 2 84611881 84612383 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26999 S 1 0 1 Single Asian sample YH DNAH6 YH esv5791 2 84611915 84612278 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28232 S 1 0 1 DNAH6 SJK nsv213267 2 84611952 84612244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231845 M 24 DNAH6 esv1671026 2 84611964 84612257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704089 S 2 0 1 DNAH6 HuRef nsv2808 2 84620631 84665390 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7514 S 9 0 1 DNAH6 NA12156 nsv214047 2 84691774 84691845 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232625 M 24 DNAH6 nsv834278 2 84721136 84886589 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441995 S 95 1 0 DNAH6 esv996990 2 84744938 84748906 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563576 S 3 0 1 DNAH6 HuRef dgv4201n71 2 84786347 85077757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874457,nsv874456 M 6533 0 2 C2orf89,DNAH6,KCMF1,TMSB10 MS21457,MS25303 nsv523412 2 84848619 84849563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699163 S 2026 0 1 DNAH6 nsv527911 2 84949765 84949992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704417 S 2026 0 1 C2orf89 nsv527061 2 84949992 84976059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703439 S 2026 0 1 C2orf89 nsv834279 2 85060964 85258815 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441997 S 95 0 1 KCMF1,TCF7L1 esv5336 2 85088825 85089098 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27777 S 1 0 1 Single Asian sample YH KCMF1 YH esv2186398 2 85180358 85180986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519108 S 1 0 1 "" NA18507 esv4852 2 85180432 85180877 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27293 S 1 0 1 Single Asian sample YH "" YH esv8821 2 85180485 85180791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31262 S 1 0 1 "" SJK esv2338605 2 85188677 85189398 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670213 S 1 0 1 "" NA18507 nsv834281 2 85192047 85364978 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441998 S 95 0 1 TCF7L1 nsv874458 2 85258773 85316113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557350 S 6533 0 1 TCF7L1 MS22619 nsv834282 2 85317905 85494823 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1441999 S 95 1 0 CAPG,ELMOD3,RETSAT,TCF7L1,TGOLN2 nsv2809 2 85324368 85341772 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7515 S 9 0 1 TCF7L1 NA12156 esv26672 2 85363505 85364199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10971 S 451 0 1 TCF7L1 NA18505 esv2454284 2 85372041 85373649 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371513 S 1 0 1 TCF7L1 NA18507 esv2015068 2 85372422 85373153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854016 S 1 0 1 TCF7L1 NA18507 esv3927 2 85372542 85373016 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26368 S 1 0 1 Single Asian sample YH TCF7L1 YH esv1680148 2 85372632 85372969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993574 S 2 0 1 TCF7L1 HuRef esv5667 2 85372634 85372952 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28108 S 1 0 1 TCF7L1 SJK nsv521146 2 85377052 85377880 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686601,nssv683024 M 2026 2 0 TCF7L1 esv1004049 2 85395953 85425944 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565530 S 3 0 0 RETSAT,TGOLN2 HuRef dgv79e19 2 85396623 85424328 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv6735,esv7517 M 1 0 0 RETSAT,TGOLN2 SJK nsv818063 2 85400940 85408773 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417315,nssv1415937 M 112 0 2 TGOLN2 NA12750,NA18608 nsv7314 2 85423525 85439336 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1510 S 9 0 0 ELMOD3,RETSAT NA19240 dgv640n67 2 85423553 85424334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829484,nsv829485 M 31 0 2 RETSAT NA18942,NA18947 nsv820710 2 85423553 85424576 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420221 S 1 1 0 RETSAT NA10851 nsv829486 2 85423553 85424576 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438341 S 31 0 1 RETSAT NA18547 esv271832 2 85443057 85443142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514851 S 157 1 0 Samples from several populations that are part of the HapMap project. ELMOD3 NA12234 nsv834283 2 85463011 85609219 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442001,nssv1442000 M 95 0 2 CAPG,ELMOD3,SH2D6 nsv7315 2 85578122 85616933 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1511 S 9 0 0 "" NA19240 nsv2811 2 85616467 85644525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10217 S 9 1 0 GGCX,LOC100630918,MAT2A NA18956 esv992753 2 85675721 85678755 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565219 S 3 0 1 RNF181 HuRef dgv4202n71 2 85681525 85800219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874459,nsv874463,nsv874462,nsv874461,nsv874460 M 6533 0 7 C2orf68,GNLY,SFTPB,TMEM150A,USP39 IS30146,IS37428,IS40657,MS14485,MS20630,MS20850,MS21738 nsv215431 2 85714510 85720126 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234009 M 24 USP39 nsv874464 2 85739686 85752409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500284 S 6533 0 1 SFTPB SP50159 nsv874465 2 85752409 85792718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557918 S 6533 0 1 GNLY MS22993 nsv2812 2 85753455 85782778 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7516 S 9 0 1 GNLY NA12156 dgv4203n71 2 85762537 85800219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874466,nsv874467 M 6533 0 2 GNLY IS40627,MS20813 esv23053 2 85779060 85779730 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17491 S 451 2 0 GNLY NA11993,NA12156 nsv874468 2 85780109 85854766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536893 S 6533 0 1 ATOH8 MS13011 esv2030767 2 85792599 85793020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751539 S 1 0 1 "" NA18507 esv3270 2 85792656 85793046 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25711 S 1 0 1 Single Asian sample YH "" YH esv990667 2 85792665 85792814 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584297 S 3 0 1 "" HuRef nsv213341 2 85792741 85792965 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231919 M 24 "" esv1142992 2 85792803 85792953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961944 S 2 0 1 "" HuRef nsv527770 2 85802907 85816062 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704259 S 2026 1 0 "" dgv4204n71 2 85827129 85881768 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874471,nsv874470,nsv874469 M 6533 0 4 ATOH8 IS35007,IS41894,MS10311,MS16153 nsv829487 2 85834110 85836632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432667 S 31 1 0 ATOH8 NA18972 esv2751903 2 86107053 86358964 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986378,essv6988641,essv6983238,essv6983239,essv6983240 M 771 1 0 IMMT,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,SNORD94 BEC_558 esv32617 2 86110152 86113796 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99551 S 51 0 1 POLR1A 22335 nsv522891 2 86132503 86135416 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698549 S 2026 0 1 POLR1A nsv458563 2 86145852 86361199 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535478 S 1557 1 0 IMMT,MIR4779,MRPL35,POLR1A,PTCD3,REEP1,SNORD94 NINDS_47 nsv458574 2 86239239 86361199 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535486 S 1557 1 0 IMMT,MIR4779,MRPL35,REEP1 1780862345_A esv25769 2 86473393 86474196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18769 S 451 0 1 "" NA19147 nsv2813 2 86561305 86594814 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7517 S 9 1 0 KDM3A,RNF103-VPS24,VPS24 NA12156 nsv829488 2 86622619 86634457 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428103 S 31 1 0 RNF103-VPS24,VPS24 AK10 esv1297314 2 86625744 86625861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148420 S 2 0 1 RNF103-VPS24,VPS24 HuRef nsv2814 2 86627449 86661229 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7518 S 9 1 0 RNF103-VPS24,VPS24 NA12156 esv2639295 2 86658430 86659966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320005 S 1 0 1 RNF103-VPS24 NA18507 nsv818064 2 86672379 86672920 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417373 S 112 0 1 RNF103-VPS24 NA18944 nsv436305 2 86703373 86707532 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465908 S 2 0 1 Samples from several populations that are part of the HapMap project. RNF103,RNF103-VPS24 NA18505 nsv829489 2 86750281 86752668 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424038 S 31 0 1 RNF103-VPS24 NA18582 esv2625579 2 86765646 86766934 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351842 S 1 0 1 RNF103-VPS24 NA18507 esv1775646 2 86777943 86777943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204316 S 2 1 0 RNF103-VPS24 HuRef nsv10063 2 86794499 86937871 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27163 S 31 1 0 Samples from several populations that are part of the HapMap project. CD8A,CD8B,RMND5A,RNF103-VPS24 NA19007 esv2421358 2 86806581 86807365 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003899,essv5148094,essv5040891,essv5104353,essv5041930,essv5135016,essv5108954,essv5036224,essv5084229,essv5161127,essv5142870,essv5071629,essv5138280,essv5102458,essv5019799,essv5005508,essv5144465,essv5152116,essv5034200,essv5091991,essv5120046,essv5066173,essv5043015,essv5057694,essv5012373,essv5103284,essv5112670,essv5005224,essv5065011,essv5148804,essv5003765,essv5059127,essv5061989,essv5133016,essv5114952,essv5034607,essv5026485,essv5088635,essv5062256,essv5112876,essv5113349,essv5053657,essv5091306,essv5159897,essv5154658,essv5115306,essv5097649,essv5156272,essv5102719,essv5008362,essv5090943,essv5118406,essv5094411,essv5020268,essv5074640,essv5056449,essv5032184,essv5048339,essv5076948,essv5006426,essv5016136,essv5093578,essv5022627,essv5158688,essv5008108,essv5013848,essv5136950,essv5020703,essv5102091,essv5157959,essv5018444,essv5062509,essv5064488,essv5084508,essv5063568,essv5034990,essv5049526,essv5135186,essv5156785,essv5102735,essv5006675,essv5136785,essv5006666,essv5081841,essv5019226,essv5022921,essv5063099,essv5106887,essv5103737,essv5009357,essv5074045,essv5015876,essv5107107,essv5048641,essv5088032,essv5145527,essv5111150,essv5031117,essv5158165,essv5158073,essv5023866,essv5144883,essv5092711,essv5099310,essv5145081,essv5119566,essv5030044,essv5004317,essv5090092,essv5088456,essv5052344,essv5031920,essv5037135,essv5024972,essv5086983,essv5112964,essv5051633,essv5083538,essv5068621,essv5031474,essv5050558,essv5065698,essv5010495,essv5145121,essv5054231,essv5012941,essv5056882,essv5039742,essv5077354,essv5103537,essv5081453,essv5004621,essv5106905,essv5153631,essv5046940,essv5131742,essv5142457,essv5092900,essv5151194,essv5103025,essv5126977,essv5091952,essv5018156,essv5017575,essv5108039,essv5146360,essv5071973,essv5036582,essv5088247,essv5076366,essv5016248,essv5107294,essv5011507,essv5063063,essv5068728,essv5050892,essv5130397,essv5005340,essv5153508,essv5149558,essv5099370,essv5075386,essv5039356,essv5053630,essv5150745,essv5031866,essv5137246,essv5150074,essv5029193,essv5080346,essv5066078,essv5077148,essv5117042,essv5071911,essv5009248,essv5067849,essv5088722,essv5135283,essv5022508,essv5119596,essv5079166,essv5031061,essv5152610,essv5131096,essv5061847,essv5094679,essv5075183,essv5043324,essv5019798,essv5044758,essv5111072,essv5029155,essv5158622,essv5032038,essv5123267,essv5156540,essv5147586,essv5155120,essv5008710,essv5139794,essv5090682,essv5009863,essv5026193,essv5063084,essv5045683,essv5062840,essv5148181,essv5093728,essv5062596,essv5064244,essv5149862,essv5070975,essv5154530,essv5113589,essv5146143,essv5042224,essv5032125,essv5123231,essv5136589,essv5066852,essv5138455,essv5006810,essv5033626,essv5126461,essv5147689,essv5035793,essv5087075,essv5081221,essv5053568,essv5121348,essv5125959,essv5147985,essv5138824,essv5133259,essv5075743,essv5149125,essv5046465,essv5135807,essv5045550,essv5085120,essv5107478,essv5093189,essv5065609,essv5028515,essv5071196,essv5129811,essv5024562,essv5016877,essv5040985,essv5033948,essv5065036,essv5156061,essv5047644,essv5085653,essv5129124,essv5070489,essv5002122,essv5004238,essv5048895,essv5117098,essv5021845,essv5157808,essv5011364,essv5075303,essv5119180,essv5133808,essv5042013,essv5074508,essv5102278,essv5071158,essv5157990,essv5116458,essv5078557,essv5004059,essv5016244,essv5142786,essv5150789,essv5028987,essv5035923,essv5064048,essv5121240,essv5151656,essv5085738,essv5149555,essv5121933,essv5047494,essv5036514,essv5050270,essv5084978,essv5072580,essv5040347,essv5033730,essv5085064,essv5063627,essv5146203,essv5052832,essv5085432,essv5130299,essv5020578,essv5152863,essv5097811,essv5011027,essv5045468,essv5053260,essv5137723,essv5046172,essv5104014,essv5144286,essv5091066,essv5044732,essv5022662,essv5036853,essv5027518,essv5012901,essv5126241,essv5035453,essv5104106,essv5013966,essv5029512,essv5062516,essv5055647,essv5057997,essv5071917,essv5072638,essv5106035,essv5080104,essv5089805,essv5118168,essv5012429,essv5115049,essv5041056,essv5141163,essv5117693,essv5061129,essv5148022,essv5013442,essv5086348,essv5021933,essv5154092,essv5121859,essv5157142,essv5143967,essv5057586,essv5009790,essv5127778,essv5043672,essv5006794,essv5137229,essv5019125,essv5087152,essv5109968,essv5054990,essv5090716,essv5082311,essv5126176,essv5118952,essv5004025,essv5024776,essv5133504,essv5082217,essv5132404,essv5052267,essv5159792,essv5101448,essv5015024,essv5150189,essv5083058,essv5078300,essv5118794,essv5066295,essv5046820,essv5002921,essv5030110,essv5096255,essv5013341,essv5130459,essv5039576,essv5036477,essv5153351,essv5011398,essv5129847,essv5043072,essv5066932,essv5034225,essv5072171,essv5111445,essv5113974,essv5077326,essv5012010,essv5028082,essv5113952,essv5145228,essv5116573,essv5156251,essv5157261,essv5005511,essv5011311,essv5103113,essv5069048,essv5022763,essv5092642,essv5110462,essv5127113,essv5106584,essv5119400,essv5142686,essv5107997,essv5149486,essv5148401,essv5036197,essv5097059,essv5138040,essv5149829,essv5135455,essv5136665,essv5145058,essv5007043,essv5143964,essv5129429,essv5089865,essv5123959,essv5067005,essv5040916,essv5155867,essv5047128,essv5061638,essv5006926,essv5083319,essv5050777,essv5034381,essv5079974,essv5054016,essv5041916,essv5083697,essv5068295,essv5050784,essv5003242,essv5010158,essv5121321,essv5078552,essv5137767,essv5158046,essv5114364,essv5026589,essv5161090,essv5064671,essv5116045,essv5103523,essv5122792,essv5144748,essv5143290,essv5030682,essv5142137,essv5011314,essv5029644,essv5112815,essv5050529,essv5061850,essv5126679,essv5035812,essv5104572,essv5028850,essv5155431,essv5098609,essv5024654,essv5020157,essv5075017,essv5017766,essv5084179,essv5149719,essv5150004,essv5129685,essv5109139,essv5037246,essv5086503,essv5115144,essv5057345,essv5143018,essv5066116,essv5049443,essv5128050,essv5032885,essv5130893,essv5102906,essv5126855,essv5004795,essv5119076,essv5071180,essv5058455,essv5091979,essv5116324,essv5095397,essv5104796,essv5126157,essv5035513,essv5123645,essv5047710,essv5144559,essv5091774,essv5145008,essv5041933,essv5122085,essv5061107,essv5153069,essv5047062,essv5092165,essv5030120,essv5016780,essv5012877,essv5029852,essv5140426,essv5147981,essv5115216,essv5080111,essv5040806,essv5075794,essv5043298,essv5050080,essv5159932,essv5041269,essv5107594,essv5158077,essv5123744,essv5117362,essv5131542,essv5013040,essv5090387,essv5072851,essv5074022,essv5148425,essv5031429,essv5042030,essv5089537,essv5150348,essv5020746,essv5063082,essv5110263,essv5158426,essv5038611,essv5112144,essv5036317,essv5128848,essv5100503,essv5047437,essv5103357,essv5059896,essv5034818,essv5009389,essv5012924,essv5154094,essv5094174,essv5029884,essv5091304,essv5068472,essv5034374,essv5115322,essv5101551,essv5059143,essv5016135,essv5040698,essv5050053,essv5154050,essv5119711,essv5055737,essv5126069,essv5158078,essv5120523,essv5117955,essv5132739,essv5068604,essv5144225,essv5073582,essv5066519,essv5124408,essv5022023,essv5079975,essv5114729,essv5033891,essv5073276,essv5116845,essv5021373,essv5005308,essv5150483,essv5037334,essv5123334,essv5124010,essv5087671,essv5041755,essv5040283,essv5032764,essv5054083,essv5060793,essv5005566,essv5002076,essv5107977,essv5080126,essv5097181,essv5047947,essv5087501,essv5042480,essv5039146,essv5015197,essv5005791,essv5112029,essv5019560,essv5066009,essv5044673,essv5111713,essv5078974,essv5135804,essv5138602,essv5139986,essv5040159,essv5069029,essv5037387,essv5101790,essv5134560,essv5077531,essv5054146,essv5081930,essv5138313,essv5121011,essv5042883,essv5029592,essv5043326,essv5140042,essv5037681,essv5077954,essv5099196,essv5084532,essv5095932,essv5002021,essv5145520,essv5138085,essv5141903,essv5004798,essv5107762,essv5093511,essv5062367,essv5062715,essv5150784,essv5055511,essv5158765,essv5103695,essv5043701,essv5078262,essv5143514,essv5040537,essv5020442,essv5084911,essv5048466,essv5063585,essv5142139,essv5080090,essv5114972,essv5148734,essv5123441,essv5063574,essv5160735,essv5049581,essv5105395,essv5103663,essv5057823,essv5114084,essv5119606,essv5090417,essv5070338,essv5027579,essv5045379,essv5112426,essv5033160,essv5057810,essv5047218,essv5027806,essv5122566,essv5128741,essv5006443,essv5104459,essv5138668,essv5035647,essv5046918,essv5044256,essv5158211,essv5114731,essv5022832,essv5039086,essv5117080,essv5123882,essv5072667,essv5053827,essv5016052,essv5111266,essv5080673,essv5135888,essv5044142,essv5139065,essv5109228,essv5108528,essv5008816,essv5102506,essv5063737,essv5156560,essv5011588,essv5026652,essv5145977,essv5078430,essv5154835,essv5053048,essv5013607,essv5089736,essv5028114,essv5066133,essv5104924,essv5081411,essv5096535,essv5015418,essv5106149,essv5158940,essv5012605,essv5036871,essv5159185,essv5088835,essv5124287,essv5012668,essv5032660,essv5081143,essv5159364,essv5077737,essv5136842,essv5078917,essv5064585,essv5109407,essv5067855,essv5092038,essv5085011,essv5104542,essv5115993,essv5114104,essv5004184,essv5049100,essv5017870,essv5039758,essv5052650,essv5101307,essv5031486,essv5125085,essv5071818,essv5007916,essv5027529,essv5135651,essv5092807,essv5141306,essv5091634,essv5087748,essv5052749,essv5042535,essv5013878,essv5051853,essv5096121,essv5084752,essv5114110,essv5064434,essv5046832,essv5081667,essv5036406,essv5064414,essv5058965,essv5052919,essv5058909,essv5027764,essv5057755,essv5096251,essv5055277,essv5042369,essv5063269,essv5156760,essv5142950,essv5107364,essv5040437,essv5095265,essv5026830,essv5127077,essv5092915,essv5094289,essv5040931,essv5016217,essv5061332,essv5012782,essv5008339,essv5136030,essv5075347,essv5056545,essv5074180,essv5147678,essv5062323,essv5060463,essv5119105,essv5155312,essv5108121,essv5109474,essv5014322,essv5086792,essv5124203,essv5159369,essv5088054,essv5091870,essv5139552,essv5007698,essv5124425,essv5117591,essv5103289,essv5152590,essv5101924,essv5069033,essv5136477,essv5014665,essv5100131,essv5030733,essv5044119,essv5062577,essv5133481,essv5115433,essv5150025,essv5069790,essv5058646,essv5022309,essv5119980,essv5012364,essv5075350,essv5077717,essv5153260,essv5064858,essv5119930,essv5064409,essv5052428,essv5114443,essv5041046,essv5004906,essv5064190,essv5154362,essv5118716,essv5113226,essv5032985,essv5128187,essv5138531,essv5095997,essv5156629,essv5144014,essv5114789,essv5121526,essv5039488,essv5095120,essv5113026,essv5060739,essv5152242,essv5160659,essv5054901,essv5061066,essv5004686,essv5136422,essv5103288,essv5078313,essv5118619,essv5042496,essv5013983,essv5151150,essv5102437,essv5075199,essv5136946,essv5073078,essv5100096,essv5046979,essv5129606,essv5029152,essv5117766,essv5010947,essv5042843,essv5016605,essv5131379,essv5029564,essv5103275,essv5150783,essv5013498,essv5007362,essv5090416,essv5129968,essv5078436,essv5126275,essv5005081,essv5059921,essv5005658,essv5143850,essv5100541,essv5116691,essv5117581,essv5009409,essv5144059,essv5108754,essv5050207,essv5101682,essv5028017,essv5148713,essv5036221,essv5132978,essv5024679,essv5006902,essv5079985,essv5057046,essv5041178,essv5104073,essv5126396,essv5132085,essv5079554,essv5157139,essv5074954,essv5086841,essv5062333,essv5082838,essv5114720,essv5005571,essv5089781,essv5069158,essv5061856,essv5035403,essv5047732,essv5111458,essv5100095,essv5020229,essv5130237,essv5098742,essv5049294,essv5153280,essv5022294,essv5106096,essv5028670,essv5104721,essv5020668,essv5145639,essv5055872,essv5008180,essv5137029,essv5142583,essv5009369,essv5009318,essv5056635,essv5073103,essv5153948,essv5074246,essv5128305,essv5012489,essv5149153,essv5047939,essv5128013,essv5152427,essv5085326,essv5056596,essv5031410,essv5075030,essv5134207,essv5129308,essv5058245,essv5012587,essv5043819,essv5122908,essv5028368,essv5035127,essv5019450,essv5157374,essv5146830,essv5017466,essv5073660,essv5126268,essv5005471,essv5062386,essv5063945,essv5052469,essv5128770,essv5074243,essv5009391,essv5061671,essv5097231,essv5074763,essv5158348,essv5135927,essv5004006,essv5091038,essv5153293,essv5017294,essv5095177,essv5082151,essv5005765,essv5043375,essv5158298,essv5038850,essv5068594,essv5101615,essv5124773,essv5140523,essv5022452,essv5147173,essv5142331,essv5035237,essv5128408,essv5139609,essv5010548,essv5096346,essv5088519,essv5110467,essv5078668,essv5012680,essv5024971,essv5094983,essv5042648,essv5108129,essv5098611,essv5007975,essv5127857,essv5086637,essv5002109 M 1184 0 1019 RMND5A NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA06997,NA07022,NA07031,NA07037,NA07045,NA07051,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11830,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12383,NA12386,NA12399,NA12400,NA12413,NA12707,NA12708,NA12716,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12873,NA12874,NA12875,NA12878,NA12889,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18748,NA18749,NA18757,NA18853,NA18855,NA18857,NA18860,NA18861,NA18862,NA18863,NA18869,NA18870,NA18872,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19087,NA19088,NA19093,NA19094,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19113,NA19115,NA19116,NA19117,NA19119,NA19120,NA19122,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19150,NA19151,NA19152,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19186,NA19189,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19204,NA19206,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19239,NA19247,NA19248,NA19256,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19472,NA19473,NA19625,NA19651,NA19652,NA19653,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19701,NA19702,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19762,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20302,NA20319,NA20322,NA20332,NA20333,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20347,NA20348,NA20349,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20510,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20531,NA20534,NA20538,NA20539,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20774,NA20775,NA20778,NA20783,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20807,NA20808,NA20809,NA20810,NA20811,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20845,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20874,NA20875,NA20877,NA20879,NA20882,NA20883,NA20887,NA20888,NA20889,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21099,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21144,NA21295,NA21297,NA21300,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21384,NA21387,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21403,NA21414,NA21415,NA21417,NA21418,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21486,NA21487,NA21489,NA21493,NA21494,NA21509,NA21510,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21525,NA21573,NA21575,NA21576,NA21580,NA21596,NA21597,NA21599,NA21600,NA21601,NA21611,NA21613,NA21615,NA21616,NA21617,NA21620,NA21631,NA21632,NA21634,NA21647,NA21650,NA21685,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21784,NA21826 nsv874472 2 86814763 86924985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600846 S 6533 1 0 CD8A,CD8B,RMND5A IS41933 esv25494 2 86825725 87027632 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11273,esv14382 M 451 10 0 CD8A,CD8B,LOC100286979,RGPD1,RGPD2,RMND5A NA11995,NA12006,NA12239,NA12287,NA12776,NA15510,NA18505,NA18523,NA18858,NA18916 nsv521780 2 86827829 86848230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694548 S 2026 0 1 RMND5A nsv458585 2 86827829 86961722 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535497 S 1557 1 0 CD8A,CD8B,LOC100286979,RMND5A 1780862041_A nsv819383 2 86855191 86855461 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419592 S 2 0 1 RMND5A AK1 nsv7316 2 86855839 87139129 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6851 S 9 0 0 CD8A,CD8B,LOC100286979,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2,RMND5A NA12156 nsv874473 2 86924985 88030523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592590 S 6533 1 0 CD8B,LINC00152,LOC100286979,LOC285074,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2,RGPD1,RGPD2 IS39243 nsv516466 2 86938427 86961722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658149,nssv668557,nssv702271 M 2026 0 3 CD8B,LOC100286979 dgv1214e1 2 86958955 88077079 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19034,essv24542,esv652,essv24111,essv23106 M 271 0 0 LINC00152,LOC100286979,LOC285074,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2,RGPD1,RGPD2 NA07034,NA07048,NA11831,NA12043 nsv874474 2 86961722 87033123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548494 S 6533 0 1 LOC100286979,RGPD1,RGPD2 MS17872 nsv519198 2 86961722 87552311 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696683 S 2026 0 1 LINC00152,LOC100286979,LOC285074,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2,RGPD1,RGPD2 nsv874475 2 86969572 87111598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598852 S 6533 0 1 LOC100286979,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 IS41317 esv33176 2 86975626 87178841 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101441,essv97810,essv97398,essv99039,essv96592,essv98068,essv99171,essv100365 M 51 0 8 LOC100286979,LOC285074,PLGLB1,PLGLB2,RGPD1,RGPD2 21603,21837,21879,21938,22011,22259,22275,22300 dgv1215e1 2 86980953 87823195 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20777,essv23503,essv21761,essv4465,essv19990,essv24828,essv18448,essv22458,essv16787,essv13400,essv3780,essv17455,essv3531,essv22188 M 271 0 0 LINC00152,LOC285074,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2,RGPD1,RGPD2 NA07000,NA07034,NA07048,NA11831,NA12043,NA12044,NA12146,NA12239,NA12761,NA18552,NA18872,NA18961,NA18965 nsv2815 2 86985211 87005120 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6852 S 9 0 1 RGPD1,RGPD2 NA12156 nsv10064 2 86985937 87006247 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27293,nssv28234,nssv29000,nssv26862 M 31 4 0 Samples from several populations that are part of the HapMap project. RGPD1,RGPD2 NA10839,NA18572,NA18972,NA19007 nsv498927 2 86987206 86998788 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585788 S 9 0 1 RGPD1,RGPD2 nsv508849 2 87003102 87061627 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623870 S 4 1 0 RGPD1,RGPD2 NA18994 dgv1216e1 2 87099273 87297313 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15124,essv16875,essv11526,essv16449,essv14702,essv10546,essv12494,essv10045 M 271 0 0 LOC285074,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2 NA19099,NA19129,NA19139,NA19159,NA19173,NA19205,NA19207,NA19240 dgv1217e1 2 87099273 87388366 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9036,essv9400,essv13855,essv14492,essv14959,essv12633 M 271 0 0 LOC285074,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2 NA18500,NA18853,NA18854,NA18870,NA19132,NA19202 nsv428398 2 87099273 87823195 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453853,nssv453831,nssv453842,nssv453864 M 62 0 4 LINC00152,LOC285074,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2,PLGLB1,PLGLB2 HGDP00463,HGDP01088,HGDP01093,HGDP01094 nsv10065 2 87109152 87199452 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26719,nssv27010,nssv27413 M 31 3 0 Samples from several populations that are part of the HapMap project. LOC285074 NA07048,NA18552,NA19007 esv22140 2 87111020 87133786 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16360,esv19517 M 451 1 1 LOC285074 NA12239,NA19147 nsv507018 2 87112272 87118272 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621998 S 4 1 0 LOC285074 NA10860 dgv4205n71 2 87116367 87306758 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874476,nsv874480,nsv874479,nsv874477 M 6533 4 0 LOC285074,MIR4771-1,MIR4771-2 IS38002,MS23145,SP50046,SP53412 nsv874478 2 87134884 87214673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513842,nssv1503056 M 6533 2 0 LOC285074 SP51481,SP55851 nsv874481 2 87134884 87375788 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524324 S 6533 1 0 LOC285074,MIR4771-1,MIR4771-2 SP54973 dgv4206n71 2 87147300 87294849 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874485,nsv874483,nsv874482,nsv874486 M 6533 11 0 LOC285074,MIR4771-1,MIR4771-2 IS30300,IS30829,IS32894,IS35007,IS38179,IS38338,IS40205,IS40802,MS13957,MS20117,SP53705 dgv4207n71 2 87160338 87815562 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874534,nsv874484,nsv874506,nsv874504,nsv874505 M 6533 5 0 LINC00152,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2 IS31651,IS37621,MS11307,MS16493,MS18252 dgv4208n71 2 87175553 87364379 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874497,nsv874489,nsv874488,nsv874487,nsv874490 M 6533 8 0 MIR4771-1,MIR4771-2 IS30270,IS30725,IS31251,IS36287,IS36726,IS40494,IS41524,MS12432 dgv4209n71 2 87175553 87424241 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874524,nsv874525,nsv874498,nsv874510,nsv874499,nsv874492,nsv874491,nsv874501,nsv874502,nsv874500,nsv874511,nsv874512,nsv874515 M 6533 43 0 MIR4771-1,MIR4771-2 IS30348,IS31166,IS31816,IS33507,IS33850,IS34954,IS35492,IS35954,IS36559,IS37837,IS37987,IS38593,IS38598,MS10282,MS10386,MS10443,MS11054,MS11061,MS12103,MS12837,MS13360,MS14416,MS14818,MS14920,MS15083,MS15600,MS16153,MS16708,MS16832,MS16932,MS17865,MS18226,MS18494,MS18540,MS19746,MS22351,MS23787,MS24935,SP51450,SP54407,SP54532,SP80925,SP81363 dgv4210n71 2 87175553 87474411 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874526,nsv874533,nsv874493,nsv874503,nsv874494 M 6533 10 0 MIR4771-1,MIR4771-2 IS31419,IS41918,MS11022,MS13212,MS13448,MS16117,MS17359,MS17909,MS21402,SP55462 dgv4211n71 2 87196423 87344148 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874496,nsv874508,nsv874509,nsv874495,nsv874521,nsv874520 M 6533 13 0 MIR4771-1,MIR4771-2 IS34526,IS35270,IS41786,MS11171,MS12261,MS13169,MS13253,SP52019,SP54393,SP54606,SP57067,SP57243,SP81554 nsv874507 2 87196515 87286126 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517995,nssv1505380,nssv1512197,nssv1505170 M 6533 3 1 MIR4771-1,MIR4771-2 SP53287,SP53448,SP55345,SP57430 nsv10066 2 87198234 87429127 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26718,nssv25166,nssv27140,nssv27013,nssv28871,nssv27389,nssv26859,nssv24901,nssv28343,nssv29030 M 31 8 2 Samples from several populations that are part of the HapMap project. MIR4771-1,MIR4771-2 NA07029,NA07048,NA10863,NA12802,NA18504,NA18517,NA18537,NA18552,NA18972,NA18980 esv26476 2 87199202 87820922 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19514,esv13463,esv15875,esv12587,esv14158,esv14495,esv20557,esv20258 M 451 11 4 LINC00152,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2 NA07037,NA11894,NA11993,NA12044,NA12239,NA12749,NA15510,NA18505,NA18861,NA19108,NA19114,NA19147,NA19190,NA19240,NA19257 dgv4212n71 2 87214673 87318549 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874516,nsv874517,nsv874519,nsv874513,nsv874518 M 6533 10 0 MIR4771-1,MIR4771-2 MS11569,MS13211,MS13359,MS18531,MS18978,MS21780,MS24678,MS25526,SP51293,SP56828 dgv4213n71 2 87214673 87375788 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874514,nsv874522,nsv874523,nsv874531 M 6533 11 0 MIR4771-1,MIR4771-2 IS32918,IS35431,IS38137,IS39119,IS40511,MS10843,MS23054,SP50522,SP51231,SP54581,SP58575 nsv514990 2 87219744 87229552 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628473 S 1414 0 0 "" nsv874527 2 87226520 87633978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591903 S 6533 1 0 LINC00152,MIR4771-1,MIR4771-2 IS39090 nsv829490 2 87227343 87410908 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422443 S 31 1 0 MIR4771-1,MIR4771-2 NA18552 nsv442780 2 87227404 87267503 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421393 2 87227404 87270600 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5139764,essv5115922,essv5141215,essv5132057,essv5110231,essv5093258,essv5090189,essv5079856,essv5046455,essv5149461,essv5121279,essv5083963,essv5147789,essv5156977,essv5116315,essv5115950,essv5010915,essv5110911,essv5090368 M 1184 0 19 "" NA11831,NA12343,NA17980,NA17982,NA18133,NA18870,NA18872,NA19036,NA19044,NA19394,NA19431,NA19463,NA20795,NA20805,NA21378,NA21447,NA21448,NA21453,NA21493 nsv507019 2 87232438 87238438 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620719 S 4 1 0 "" NA15510 dgv4214n71 2 87243177 87318549 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874528,nsv874530,nsv874529 M 6533 4 0 MIR4771-1,MIR4771-2 IS38217,IS38441,MS16447,SP55611 nsv514079 2 87243544 87264520 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628458 S 1414 0 0 "" dgv4215n71 2 87246054 87424241 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874538,nsv874532,nsv874535,nsv874537 M 6533 6 0 MIR4771-1,MIR4771-2 IS30066,IS38464,MS14450,MS21558,SP50081,SP56089 nsv874536 2 87264508 87309324 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565407 S 6533 1 0 MIR4771-1,MIR4771-2 IS30411 nsv874539 2 87264508 87449431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531638,nssv1551257 M 6533 2 0 MIR4771-1,MIR4771-2 MS10575,MS18843 nsv438358 2 87267723 87297627 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471020,nssv471022,nssv471025,nssv471023,nssv471019,nssv471021 M 269 0 3 Samples from several populations that are part of the HapMap project. MIR4771-1,MIR4771-2 NA10847,NA12146,NA12239 dgv33n64 2 87284238 87557421 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818065,nsv818066 M 112 4 0 LINC00152 NA12043,NA12044,NA12146,NA12239 nsv516958 2 87284238 88080959 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694014,nssv653508,nssv689128,nssv681085,nssv684423,nssv679431,nssv661587 M 2026 3 4 LINC00152,MIR4435-1,MIR4435-2,PLGLB1,PLGLB2,RGPD1,RGPD2 nsv874540 2 87296987 87375788 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568327,nssv1539491,nssv1549121,nssv1532825 M 6533 3 1 "" IS31234,MS10871,MS14343,MS18080 dgv4216n71 2 87296987 87410648 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874544,nsv874541,nsv874542 M 6533 6 0 "" IS36591,MS11746,MS16368,MS22928,MS25177,SP51494 dgv4217n71 2 87301455 87455730 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874546,nsv874545,nsv874543,nsv874548 M 6533 5 0 "" IS32894,IS38490,MS13451,MS15915,SP54606 esv2422021 2 87315708 87424241 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130945,essv5104001,essv5028875,essv5127694,essv5098813,essv5148052,essv5131620,essv5007655,essv5062584,essv5145297,essv5091855,essv5058138,essv5058231,essv5068018,essv5152278,essv5030963,essv5074380,essv5047889,essv5151458,essv5122429,essv5118425,essv5052961,essv5039336,essv5141888,essv5010030,essv5083648,essv5041544,essv5021275,essv5005072,essv5011744,essv5132999,essv5131424,essv5150974,essv5083194,essv5081309,essv5061037,essv5105565,essv5160074,essv5138172,essv5121625,essv5102710,essv5032189,essv5158008,essv5157963,essv5085791,essv5016667,essv5066021,essv5047399,essv5037347,essv5005045,essv5079039,essv5105140,essv5084940,essv5129033,essv5015696,essv5128516,essv5087760,essv5044889,essv5159647,essv5093857,essv5099941,essv5053157,essv5154706,essv5156324,essv5090531,essv5124772,essv5012832,essv5135662,essv5067275,essv5035859,essv5160357,essv5056347,essv5085726,essv5013844,essv5016609,essv5098816,essv5007190,essv5075433,essv5062387,essv5142465,essv5049324,essv5138388,essv5052136,essv5099764,essv5094495,essv5084140,essv5126559,essv5020615,essv5102608,essv5007181,essv5024997,essv5143902,essv5144181,essv5034780,essv5034494,essv5131102,essv5103749,essv5050116,essv5142611,essv5101793,essv5154095,essv5117241,essv5007899,essv5030927,essv5093220,essv5019268,essv5133319,essv5041062,essv5031647,essv5037082,essv5087761,essv5089446,essv5062966,essv5067955,essv5096940,essv5007407,essv5090965,essv5106904,essv5046332,essv5141055,essv5160292,essv5144536,essv5028787,essv5117067,essv5127816,essv5078356,essv5011174,essv5120180,essv5076874,essv5089907,essv5088254,essv5077186,essv5037478,essv5119710,essv5003327,essv5087765,essv5128335,essv5048877,essv5022365,essv5120328,essv5056877,essv5006586,essv5143843,essv5145628,essv5029703,essv5084745,essv5145013,essv5143285,essv5142995,essv5016245,essv5083608,essv5009317,essv5106542,essv5039700,essv5047673,essv5067430,essv5052903,essv5044472,essv5101839,essv5013224,essv5070827,essv5047226,essv5099722,essv5103668,essv5034770,essv5160196,essv5120022,essv5011563,essv5126183,essv5072902,essv5048455,essv5021560,essv5045710,essv5155548,essv5058588,essv5026855,essv5025536,essv5084457,essv5148121,essv5089236,essv5039640,essv5145756,essv5017264,essv5055111,essv5009536,essv5148174,essv5092510,essv5049953,essv5056005,essv5004381,essv5074474,essv5115908,essv5158746,essv5151957,essv5109761,essv5052816,essv5152526,essv5053162,essv5132420,essv5071602,essv5017362,essv5030929,essv5058502,essv5151618,essv5088178,essv5057969,essv5085322,essv5072587,essv5014260,essv5160059,essv5116841,essv5112100,essv5109063,essv5054550,essv5077583,essv5120401,essv5042692,essv5151321,essv5128035,essv5123646,essv5096437,essv5085926,essv5152953,essv5139613,essv5146965,essv5019819,essv5051316,essv5033827,essv5023960,essv5139126,essv5116854,essv5033762,essv5017377,essv5118557,essv5150169,essv5065465,essv5073770,essv5132809,essv5039334,essv5067108,essv5065611,essv5130195,essv5003284,essv5005561,essv5125725,essv5067891,essv5031334,essv5154296,essv5088557,essv5147843,essv5060648,essv5013851,essv5148104,essv5142445,essv5129401,essv5089119,essv5106404,essv5046920,essv5057135,essv5019474,essv5085337,essv5140105,essv5155496,essv5040170,essv5086547,essv5151569,essv5133028,essv5030504,essv5138265,essv5136132,essv5014121,essv5143090,essv5139545,essv5050405,essv5030722,essv5036454,essv5126968,essv5129614,essv5058589,essv5109171,essv5076588,essv5026367,essv5064112,essv5159992,essv5005702,essv5118355,essv5029059,essv5114709,essv5058041,essv5020719,essv5027340,essv5128374,essv5127686,essv5100340,essv5039270,essv5078370,essv5073809,essv5006374,essv5067123,essv5102338,essv5159276,essv5059531,essv5016750,essv5045900,essv5101046,essv5049943,essv5100188,essv5005215,essv5022472,essv5127458,essv5123573,essv5042536,essv5018224,essv5022412,essv5072346,essv5002543,essv5119312,essv5050486,essv5113339,essv5070417,essv5029659,essv5078239,essv5079764,essv5049674,essv5049237,essv5024428,essv5029443,essv5126914,essv5076346,essv5090909,essv5155800,essv5150240,essv5005733,essv5047878,essv5002171,essv5155408,essv5123789,essv5037465,essv5042276,essv5077515,essv5058456,essv5112865,essv5002806,essv5142549,essv5113455,essv5059342,essv5041166,essv5086915,essv5147819,essv5075689,essv5138852,essv5005870,essv5044398,essv5008378,essv5119531,essv5072635,essv5099024,essv5074325,essv5077372,essv5135575,essv5101267,essv5023318,essv5053934,essv5092731,essv5147658,essv5074493,essv5065893,essv5063873,essv5014553,essv5015410,essv5079060,essv5140085,essv5128218,essv5103752,essv5109677,essv5004259,essv5127343,essv5089764,essv5156949,essv5121854,essv5063739,essv5023825,essv5096998,essv5034108,essv5122957,essv5087199,essv5077541,essv5012020,essv5126266,essv5062164,essv5107918,essv5021035,essv5003945,essv5129025,essv5025874,essv5012335,essv5080489,essv5083030,essv5046175,essv5061531,essv5055965,essv5097642,essv5005838,essv5114335,essv5103359,essv5004513,essv5139460,essv5027027,essv5058117,essv5096597,essv5097636,essv5100713,essv5154264,essv5086041,essv5004090,essv5039478,essv5131445,essv5099113,essv5117647,essv5049274,essv5009070,essv5020251,essv5132699,essv5013478,essv5103434,essv5108310,essv5041524,essv5151116,essv5040650,essv5047007,essv5072248,essv5003301,essv5092508,essv5076903,essv5084167,essv5037668,essv5086466,essv5156954,essv5039572,essv5149174,essv5089749,essv5064051,essv5134094,essv5028037,essv5022884,essv5021449,essv5149428,essv5147095,essv5113032,essv5077676,essv5117215,essv5123926,essv5145995,essv5048562,essv5022027,essv5140326,essv5099337,essv5150621,essv5061690,essv5007890,essv5156864,essv5065819,essv5018960,essv5133758,essv5005563,essv5096761,essv5087355,essv5122175,essv5049381,essv5019403,essv5055590,essv5160693,essv5100149,essv5024545,essv5093067,essv5153284,essv5026697,essv5005942,essv5100234,essv5156993,essv5132386,essv5157768,essv5121875,essv5098921,essv5021132,essv5160342,essv5154499,essv5038140,essv5042689,essv5145668,essv5066361,essv5157039,essv5089913,essv5088949,essv5126355,essv5102560,essv5129050,essv5001917,essv5153153,essv5133530,essv5043478,essv5081928,essv5140240,essv5013560,essv5021613,essv5148159,essv5070987,essv5010295,essv5075135,essv5112086,essv5020465,essv5063662,essv5024132,essv5111653,essv5112990,essv5002371,essv5110434,essv5126059,essv5117248,essv5091628,essv5034228,essv5073255,essv5099070,essv5032068,essv5010530,essv5045286,essv5044914,essv5098114,essv5066506,essv5129815,essv5100876,essv5064758,essv5058031,essv5096182,essv5017782,essv5048300,essv5062529,essv5021927,essv5089108,essv5114634,essv5080062,essv5079545,essv5011073,essv5043832,essv5062518,essv5006847,essv5055641,essv5042832,essv5107388,essv5005085,essv5031538,essv5137678,essv5142875,essv5065432,essv5116334,essv5012377,essv5060198,essv5156257,essv5142369,essv5128147,essv5043661,essv5116265,essv5148857,essv5150017,essv5026624,essv5039690,essv5049078,essv5103214,essv5138707,essv5127234,essv5014604,essv5023184,essv5096735,essv5057592,essv5147520,essv5143690,essv5101428,essv5038995,essv5092292,essv5122307,essv5104306,essv5085632,essv5133623,essv5130670,essv5065337,essv5138986,essv5131757,essv5125354,essv5142668,essv5038861,essv5111387,essv5139558,essv5122015,essv5032931,essv5028917,essv5118599,essv5084096,essv5040185,essv5027986,essv5101526,essv5034018,essv5069713,essv5050185,essv5076240,essv5147867,essv5113717,essv5047868,essv5038901,essv5070997,essv5064535,essv5023386,essv5054148,essv5120003,essv5069115,essv5073669,essv5125365,essv5151316,essv5005107,essv5061044,essv5025607,essv5157376,essv5153481,essv5108560,essv5039514,essv5007170,essv5041528,essv5086400,essv5021257,essv5125592,essv5041985,essv5030367,essv5088523,essv5104779,essv5105162,essv5143393,essv5111505,essv5067160,essv5124524,essv5012991,essv5016792,essv5076559,essv5043892,essv5045634,essv5116380,essv5027979,essv5022825,essv5068793,essv5073362,essv5045090,essv5126507,essv5109424,essv5105653,essv5036688,essv5047291,essv5139627,essv5018937,essv5006640,essv5093714,essv5126083,essv5123041,essv5076229,essv5002350,essv5063438,essv5132151,essv5018057,essv5068232,essv5094404,essv5151861,essv5134411,essv5110949,essv5123236,essv5013064,essv5153545,essv5160578,essv5060228,essv5046858,essv5058641,essv5033391,essv5064561,essv5003253,essv5110680,essv5047689,essv5134335,essv5086262,essv5141384,essv5147676,essv5017721,essv5003427,essv5114699,essv5058901,essv5160280,essv5010136,essv5105804,essv5085024,essv5037529,essv5013027,essv5018565,essv5043720,essv5115062,essv5094254,essv5144728,essv5120473,essv5088427,essv5160975,essv5108855,essv5059310,essv5098855,essv5057747,essv5106071,essv5060499,essv5024043,essv5081010,essv5145511,essv5136025,essv5121811,essv5014932,essv5018111,essv5026548,essv5092464,essv5058021,essv5038226,essv5035627,essv5016793,essv5156986,essv5012779,essv5087446,essv5076287,essv5132636,essv5119791,essv5120814,essv5089482,essv5124558,essv5109579,essv5047894,essv5063921,essv5022858,essv5005643,essv5154927,essv5142673,essv5105673,essv5041221,essv5039591,essv5057949,essv5019459,essv5071273,essv5143396,essv5122362,essv5097794,essv5042304,essv5079258,essv5035395,essv5059170,essv5098843,essv5140821,essv5136766,essv5044353,essv5119017,essv5113571,essv5056235,essv5147245,essv5156119,essv5067573,essv5053440,essv5130180,essv5057132,essv5098838,essv5119057,essv5144880,essv5141624,essv5061665,essv5039293,essv5112164,essv5105711,essv5066683,essv5058395,essv5112114,essv5040443,essv5082589,essv5039053,essv5065245,essv5135786,essv5005064,essv5056119,essv5048934,essv5121572,essv5104758,essv5026230,essv5042105,essv5051672,essv5070157,essv5064111,essv5143153,essv5157200,essv5036468,essv5060000,essv5137905,essv5114828,essv5159637,essv5013371,essv5055443,essv5037996,essv5067668,essv5075941,essv5002611,essv5125802,essv5134781,essv5110513,essv5016925,essv5016663,essv5070716,essv5019087,essv5050639,essv5159532,essv5109298,essv5139490,essv5123740,essv5145678,essv5110276,essv5017682,essv5015399,essv5065401,essv5016167,essv5116229,essv5094033,essv5066630,essv5027600,essv5098563,essv5089385,essv5078418,essv5016570,essv5004234,essv5091766,essv5119449,essv5129396,essv5123323,essv5148721,essv5008794,essv5123188,essv5012641,essv5155880,essv5030708,essv5130693,essv5027788,essv5089187,essv5047300,essv5111156,essv5070315,essv5036565,essv5028802,essv5114074,essv5044777,essv5053324,essv5136706,essv5048115,essv5111873,essv5017601,essv5031994,essv5125811,essv5057043,essv5090024,essv5046374,essv5027727,essv5073115,essv5138859,essv5060059,essv5009549,essv5035911,essv5105731,essv5051277,essv5041558,essv5007240,essv5007111,essv5060042,essv5009471,essv5046967,essv5089456,essv5114416,essv5140726,essv5019101,essv5143767,essv5037080,essv5127153,essv5113672,essv5153102,essv5149543,essv5059165,essv5149404,essv5090432,essv5158585,essv5059439,essv5016432,essv5007821,essv5145632,essv5117327,essv5070660,essv5105882,essv5154666,essv5047724,essv5007888,essv5148697,essv5105550,essv5150506,essv5010744,essv5141662,essv5139679,essv5074967,essv5155454,essv5086405,essv5004994,essv5123787,essv5071350,essv5066013,essv5032399,essv5009956,essv5110067,essv5003064,essv5137965,essv5071006,essv5155930,essv5063350,essv5033540,essv5064703,essv5082945,essv5072433,essv5139087,essv5062482,essv5125043,essv5049642,essv5081952,essv5124791,essv5113732,essv5005880,essv5062634,essv5144528,essv5160499,essv5144546,essv5038086,essv5003328,essv5017715,essv5084984,essv5153123,essv5096809,essv5001907,essv5067025,essv5070657,essv5002014,essv5052914,essv5016723,essv5151898,essv5056602,essv5036344,essv5148109,essv5132574,essv5127907,essv5066340,essv5028240,essv5093177,essv5080680,essv5077764,essv5145724,essv5022639,essv5069162,essv5146866,essv5105503,essv5150516,essv5122367,essv5081886,essv5023563,essv5084814,essv5019991,essv5107985,essv5019845,essv5047699,essv5091642,essv5135007,essv5152883,essv5030882,essv5105564,essv5059353,essv5046325,essv5121548,essv5036467,essv5105780,essv5135157,essv5115492,essv5028859,essv5021655,essv5155281,essv5043258,essv5082607,essv5055820,essv5054415,essv5073635,essv5114049,essv5006832,essv5079129,essv5070547,essv5039476,essv5032065,essv5045691,essv5030195,essv5052197,essv5032799,essv5022299,essv5105722,essv5113416,essv5099472,essv5043849,essv5050750,essv5045991,essv5002974,essv5092419,essv5147155,essv5042272,essv5054431,essv5017566,essv5030681,essv5058810,essv5068328,essv5117061,essv5041866,essv5154482,essv5010269,essv5121879,essv5098687,essv5098415,essv5073450,essv5096982,essv5120609,essv5108137,essv5137170,essv5048076,essv5059827,essv5144639,essv5081945,essv5107431,essv5061755,essv5132348,essv5058069,essv5007865,essv5051559,essv5019258,essv5114171,essv5146101,essv5078425,essv5079514,essv5085580,essv5065150,essv5031992,essv5132095,essv5014195,essv5001993,essv5006116,essv5145508,essv5123659,essv5128211,essv5106318,essv5079821,essv5115291,essv5035485,essv5020967,essv5142371,essv5049620,essv5087893,essv5085045,essv5134270,essv5127682,essv5036136,essv5031439,essv5011281,essv5133458,essv5094115,essv5009989,essv5023191,essv5054498,essv5148422,essv5083186,essv5032251,essv5147551,essv5017013,essv5132491,essv5144628,essv5105707,essv5085949,essv5145874,essv5035775,essv5051267,essv5105806,essv5004039,essv5095713,essv5007030,essv5082863,essv5114878,essv5016369,essv5085794,essv5017172,essv5023359,essv5074349,essv5010303,essv5019377,essv5008290,essv5127416,essv5014999,essv5116692,essv5071072,essv5102960,essv5056068,essv5055979,essv5132797,essv5067281,essv5132177,essv5055168,essv5066577,essv5019317,essv5106793,essv5104442,essv5142218,essv5003193,essv5113941,essv5025557,essv5060971,essv5112852,essv5159952,essv5021458,essv5049028,essv5016484,essv5035452,essv5068058,essv5051422,essv5067014,essv5070567,essv5008117,essv5128300,essv5095180,essv5103745,essv5152030,essv5133539,essv5147531,essv5039281,essv5048245,essv5050808,essv5132967,essv5113095,essv5119761,essv5045754,essv5033998,essv5122216,essv5156898,essv5077635,essv5098202,essv5128863,essv5002298,essv5072559,essv5159746,essv5108162,essv5023246,essv5094251,essv5092971,essv5094997,essv5065899,essv5049368,essv5087798,essv5012213,essv5030441,essv5131305,essv5127800,essv5074506,essv5025630,essv5080315,essv5077400,essv5161153,essv5073739,essv5123907,essv5148633,essv5157127,essv5121245,essv5062637,essv5053547,essv5068501 M 1184 1179 0 "" 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nsv874547 2 87324525 87539111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592057 S 6533 1 0 LINC00152 IS39205 nsv438359 2 87327630 87344242 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471027,nssv471026,nssv471028,nssv471029 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA07055,NA10847,NA12239 dgv59n17 2 87338885 87484728 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437468,nsv437457 M 60 0 2 "" NA07048,NA10847 nsv442782 2 87367890 87376453 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1218e1 2 87370408 87525292 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17325,essv10586 M 271 0 0 "" NA18856,NA19240 dgv4218n71 2 87393403 87539111 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874549,nsv874551 M 6533 4 0 LINC00152 IS33192,IS33575,MS24747,SP58241 dgv4219n71 2 87395455 87815562 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874552,nsv874550 M 6533 2 0 LINC00152,MIR4435-1,MIR4435-2 IS36287,IS39100 nsv442785 2 87408824 87411772 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv821200 2 87413126 87476319 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420222 S 1 1 0 "" NA10851 nsv820212 2 87420697 87481497 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418910 S 2 1 0 "" AK1 dgv61n16 2 87424371 89930826 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436310,nsv436286 M 2 0 1 ANKRD36BP2,C2orf51,EIF2AK3,FABP1,FOXI3,KRCC1,LINC00152,MIR4435-1,MIR4435-2,MIR4436A,MIR4780,PLGLB1,PLGLB2,RGPD1,RGPD2,RPIA,SMYD1,THNSL2 NA18505 nsv10067 2 87429142 87440073 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29097,nssv26858 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18537,NA19221 nsv2816 2 87434678 87441810 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10218 S 9 1 0 "" NA18956 nsv10068 2 87438782 87752347 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27523,nssv28406,nssv27270,nssv27274,nssv28284,nssv27924,nssv27023,nssv27153 M 31 2 5 Samples from several populations that are part of the HapMap project. LINC00152,MIR4435-1,MIR4435-2 NA07048,NA10839,NA11830,NA18502,NA18552,NA18975,NA19132 nsv508850 2 87462247 87513815 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618006,nssv619909,nssv623871 M 4 3 0 "" CHM,NA10860,NA18994 nsv834284 2 87462755 87611918 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442006,nssv1442009,nssv1442010,nssv1442002,nssv1442008,nssv1442005,nssv1442004,nssv1442003 M 95 7 1 LINC00152 nsv2817 2 87467864 87468936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7519 S 9 1 0 "" NA12156 esv9099 2 87477513 87509968 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31540 S 1 0 1 "" SJK nsv511192 2 87482067 87512143 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626465 S 1 0 1 "" 1 nsv2818 2 87483300 87526952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2270,nssv9571,nssv10219,nssv2268,nssv5801,nssv4430 M 9 5 0 "" NA12878,NA18507,NA18555,NA18956,NA19129 nsv2819 2 87491303 87546743 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2269,nssv6853 M 9 0 2 LINC00152 NA12156,NA18555 dgv4220n71 2 87507658 87601911 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874553,nsv874563 M 6533 3 0 LINC00152 SP50046,SP50081,SP54581 dgv4221n71 2 87507658 87673401 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874555,nsv874562,nsv874556,nsv874554,nsv874557 M 6533 7 0 LINC00152 IS31251,IS31816,IS36559,IS37837,MS12432,MS21780,SP54532 dgv4222n71 2 87507658 87794277 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874561,nsv874559,nsv874558,nsv874560,nsv874564 M 6533 5 0 LINC00152,MIR4435-1,MIR4435-2 IS33691,IS35270,IS38179,MS13957,MS21758 nsv834285 2 87512069 87647713 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442012,nssv1442014,nssv1442013,nssv1442015,nssv1442011,nssv1442017,nssv1442016 M 95 7 0 LINC00152 nsv829491 2 87519628 87786549 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422444 S 31 1 0 LINC00152,MIR4435-1,MIR4435-2 NA18552 nsv514991 2 87522512 87546144 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628474 S 1414 0 0 LINC00152 nsv821626 2 87540032 87656698 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421291 S 31 1 0 LINC00152 nsv818068 2 87552311 87557421 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416572 S 112 1 0 LINC00152 NA10857 dgv4223n71 2 87552311 87664899 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874565,nsv874566 M 6533 2 0 LINC00152 MS11054,SP58575 esv33317 2 87552732 87786503 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101786,essv99430 M 51 2 0 LINC00152,MIR4435-1,MIR4435-2 21909,22335 dgv4224n71 2 87582134 87673401 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874567,nsv874569 M 6533 3 0 LINC00152 MS10871,MS13253,MS17363 dgv4225n71 2 87582134 87727102 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874571,nsv874568 M 6533 3 0 LINC00152,MIR4435-1,MIR4435-2 IS36517,IS40226,MS22209 nsv2820 2 87587379 87594261 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7520 S 9 0 1 LINC00152 NA12156 dgv4226n71 2 87590300 87815562 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874570,nsv874572 M 6533 2 0 LINC00152,MIR4435-1,MIR4435-2 IS38217,MS14450 nsv442790 2 87600933 87609093 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LINC00152 essv14988 2 87601476 87823195 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LINC00152,MIR4435-1,MIR4435-2 NA18870 nsv834286 2 87613688 87785052 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442019,nssv1442021,nssv1442022,nssv1442020,nssv1442023,nssv1442024 M 95 6 0 MIR4435-1,MIR4435-2 esv2422072 2 87620412 87775756 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5036156,essv5026424,essv5070076,essv5115757,essv5144565,essv5015231,essv5038316,essv5134119,essv5073937,essv5084120,essv5015383,essv5110404,essv5137068,essv5121535,essv5093888,essv5024522,essv5102207,essv5066004,essv5073667,essv5032073,essv5029879,essv5035131 M 1184 0 22 MIR4435-1,MIR4435-2 NA07345,NA11831,NA12343,NA17980,NA17982,NA18133,NA18597,NA18870,NA18872,NA19036,NA19044,NA19394,NA19431,NA19463,NA20795,NA21364,NA21378,NA21447,NA21448,NA21453,NA21493,NA21631 nsv508099 2 87629445 87635445 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621527 S 4 0 1 "" NA15510 nsv441767 2 87668332 87753000 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR4435-1,MIR4435-2 nsv874573 2 87692940 87794277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512762 S 6533 1 0 MIR4435-1,MIR4435-2 SP55611 nsv507020 2 87701447 87707447 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621999,nssv620720,nssv623341 M 4 3 0 "" NA10860,NA15510,NA18994 nsv834287 2 87720774 87898740 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442025 S 95 1 0 PLGLB1,PLGLB2,RGPD1,RGPD2 nsv10069 2 87751796 87822042 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27390,nssv28007,nssv27283,nssv29127 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA18502,NA18552,NA19221 nsv834288 2 87828344 88056043 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442027,nssv1442028,nssv1442026 M 95 3 0 PLGLB1,PLGLB2,RGPD1,RGPD2 nsv874574 2 87840720 87996450 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513048 S 6533 1 0 RGPD1,RGPD2 SP55671 dgv4227n71 2 87898866 87963985 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874576,nsv874579,nsv874575 M 6533 0 3 RGPD1,RGPD2 IS30082,IS41839,MS26119 nsv874577 2 87904613 88053527 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570212,nssv1582465 M 6533 2 0 RGPD1,RGPD2 IS31832,IS35963 nsv10070 2 87905308 88042719 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27022,nssv27633,nssv27143,nssv29060,nssv27394,nssv28477,nssv28152,nssv28261,nssv25446,nssv28901,nssv27403,nssv27146 M 31 12 0 Samples from several populations that are part of the HapMap project. RGPD1,RGPD2 NA10863,NA11830,NA12740,NA12802,NA18517,NA18537,NA18552,NA18564,NA18942,NA18972,NA18975,NA19240 nsv820913 2 87905414 88078368 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420223 S 1 0 1 RGPD1,RGPD2 NA10851 esv27348 2 87905540 88068613 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18021,esv12792 M 451 40 0 RGPD1,RGPD2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv874578 2 87906703 87958071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593785 S 6533 1 0 RGPD1 IS39517 nsv829493 2 87926461 88078368 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422445 S 31 1 0 RGPD1 NA18552 nsv829494 2 87946600 88004030 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426473 S 31 1 0 RGPD1 AK6 nsv874580 2 87958570 87967424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590317 S 6533 0 1 RGPD1 IS38491 esv1743470 2 87987647 87988111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729267 S 2 0 1 RGPD1 HuRef nsv10071 2 88057936 88070934 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28202,nssv27502,nssv25181,nssv27026,nssv27612,nssv28961,nssv27525,nssv27515,nssv27276,nssv29090,nssv28334 M 31 10 0 Samples from several populations that are part of the HapMap project. RGPD1 NA07048,NA10839,NA12740,NA18517,NA18552,NA18572,NA18942,NA18972,NA18980,NA19007 esv32626 2 88084474 88084821 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98792 S 51 0 1 "" 21606 nsv441768 2 88093546 88111932 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KRCC1 esv3476 2 88102010 88102473 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25917 S 1 0 1 Single Asian sample YH "" YH esv1003041 2 88102085 88102331 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571762 S 3 0 1 "" HuRef esv1388603 2 88102085 88102332 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213981 S 2 0 1 "" HuRef nsv874581 2 88162851 88359658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526752 S 6533 1 0 FABP1,MIR4780,SMYD1,THNSL2 SP57771 nsv834289 2 88163710 88331961 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442030 S 95 1 0 FABP1,SMYD1,THNSL2 esv2518093 2 88261583 88262518 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251301 S 1 1 0 THNSL2 NA18507 esv1550357 2 88261754 88261754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172424 S 2 1 0 THNSL2 HuRef esv1593020 2 88261755 88261755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176185 S 2 1 0 THNSL2 HuRef nsv507021 2 88261801 88267801 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623342 S 4 1 0 THNSL2 NA18994 esv2386888 2 88281824 88282286 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724471 S 1 0 1 "" NA18507 nsv2822 2 88294013 88338315 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2271 S 9 0 1 "" NA18555 nsv2823 2 88345276 88390171 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7521 S 9 0 1 "" NA12156 esv2602042 2 88381682 88383015 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183121 S 1 0 1 "" NA18507 esv2042558 2 88381735 88382468 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4581169 S 1 0 1 "" NA18507 esv2909 2 88381858 88382320 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25350 S 1 0 1 Single Asian sample YH "" YH nsv458596 2 88398702 88626255 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535508 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2orf51,FOXI3 HGDP00753 nsv470476 2 88464882 88910111 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547230 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD36BP2,C2orf51,EIF2AK3,FOXI3,MIR4436A,RPIA HGDP01216 esv2423841 2 88602258 88603853 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204247 S 1 0 1 "" NA18507 esv1990003 2 88602908 88603785 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630945 S 1 0 1 "" NA18507 esv6895 2 88603064 88603612 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29336 S 1 0 1 "" SJK esv29425 2 88603095 88603600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20444 S 451 0 5 "" NA07037,NA11894,NA11995,NA12156,NA12749 esv24191 2 88609089 88612334 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16053 S 451 2 0 C2orf51 NA18502,NA19257 nsv507022 2 88649318 88655318 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623343 S 4 1 0 EIF2AK3 NA18994 nsv874582 2 88680998 88931328 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526753 S 6533 1 0 ANKRD36BP2,EIF2AK3,MIR4436A,RPIA SP57771 nsv834290 2 88767337 88974892 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442031 S 95 0 1 ANKRD36BP2,MIR4436A,RPIA esv988060 2 88782256 88782256 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579481 S 3 1 0 RPIA HuRef nsv874583 2 88785262 89029231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572869 S 6533 1 0 ANKRD36BP2,MIR4436A,RPIA IS33188 dgv4228n71 2 88785262 89157579 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874584,nsv874585 M 6533 3 0 ANKRD36BP2,MIR4436A,RPIA IS34083,IS40186,IS40571 esv2509341 2 88809668 88814021 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347693 S 1 0 1 RPIA NA18507 esv2104363 2 88810146 88813608 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719836 S 1 0 1 RPIA NA18507 nsv511794 2 88810172 88813405 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626445 S 1 0 1 RPIA 1 dgv82e180 2 88810172 88814133 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994157,esv1001545 M 3 0 1 RPIA HuRef esv4683 2 88810327 88813493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27124 S 1 0 1 Single Asian sample YH RPIA YH esv1532292 2 88810361 88813415 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044731 S 2 0 1 RPIA HuRef esv7597 2 88810362 88813410 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30038 S 1 0 1 RPIA SJK nsv214854 2 88810362 88813415 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233432 M 24 RPIA nsv2824 2 88846016 89279044 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7524,nssv5803,nssv5802,nssv10220,nssv9572,nssv11014,nssv1514,nssv2273,nssv6854,nssv7523,nssv1513,nssv6856,nssv4434,nssv2275 M 9 0 8 ANKRD36BP2,MIR4436A NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 esv26298 2 88847514 88887036 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13224 S 451 1 0 ANKRD36BP2 NA19108 nsv508152 2 88851484 88879708 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619034 S 4 0 1 ANKRD36BP2 NA10860 nsv213270 2 88856832 88857001 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231848 M 24 ANKRD36BP2 esv2169739 2 88861647 88861964 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643051 S 1 0 1 ANKRD36BP2 NA18507 esv2058004 2 88861791 88862165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805533 S 1 0 1 ANKRD36BP2 NA18507 nsv7318 2 88876229 89885502 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4435,nssv4432,nssv4433,nssv6855,nssv9349,nssv2272,nssv4431,nssv11015 M 9 0 0 ANKRD36BP2,MIR4436A NA12156,NA12878,NA15510,NA18517,NA18555 nsv190 2 88887206 88944313 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv190 S 1 0 1 ANKRD36BP2,MIR4436A NA15510 nsv508153 2 88892087 89247305 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622813,nssv620185,nssv619035 M 4 0 3 MIR4436A NA10860,NA15510,NA18994 nsv829495 2 88893862 88903159 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423211 S 31 0 1 "" NA18999 nsv511175 2 88909336 89115398 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626277 S 1 1 0 "" 1 nsv436309 2 88911027 88940132 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465913 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv990340 2 88911856 89303049 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586033 S 3 1 0 "" HuRef esv2440928 2 88912753 88940868 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354706 S 1 0 1 "" NA18507 esv2014967 2 88913225 88940425 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716831 S 1 0 1 "" NA18507 nsv820887 2 88913358 88942575 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420224 S 1 0 1 "" NA10851 esv29894 2 88913428 89411510 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19524,esv18547,esv11733,esv17170,esv16948,esv12500,esv19053,esv20005,esv18113,esv15229,esv14724,esv11681,esv21176,esv20113,esv12220,esv12775,esv13833,esv17804,esv17142,esv18691,esv14243,esv14472,esv16315 M 451 40 38 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv995396 2 88913483 88942451 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586177 S 3 1 0 "" HuRef dgv641n67 2 88913522 88942270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829497,nsv829501,nsv829499,nsv829502,nsv829496,nsv829500,nsv829504,nsv829498 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv819564 2 88913548 88942606 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418714 S 2 1 0 "" AK1 nsv514080 2 88913552 88939936 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628469 S 1414 0 0 "" dgv17e24 2 88913578 89078631 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv33768,esv32842 M 51 50 0 "" 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 nsv438360 2 88918239 88928238 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471047,nssv471034,nssv471044,nssv471039,nssv471042,nssv471032,nssv471038,nssv471033,nssv471030,nssv471031,nssv471043,nssv471040,nssv471041,nssv471037,nssv471045,nssv471036,nssv471048 M 269 0 17 Samples from several populations that are part of the HapMap project. "" NA06985,NA06993,NA06994,NA07000,NA10835,NA10839,NA10855,NA11839,NA11992,NA11993,NA11994,NA12005,NA12044,NA12236,NA12248,NA12707,NA12872 nsv834292 2 88921446 89083570 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442042,nssv1442052,nssv1442056,nssv1442043,nssv1442049,nssv1442046,nssv1442047,nssv1442055,nssv1442037,nssv1442038,nssv1442054,nssv1442036,nssv1442044,nssv1442045,nssv1442058,nssv1442057,nssv1442048,nssv1442041,nssv1442035,nssv1442032,nssv1442053,nssv1442050,nssv1442034,nssv1442033,nssv1442039 M 95 0 25 "" nsv829505 2 88940260 88941517 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433502 S 31 0 1 "" NA18526 esv2458787 2 88940978 88957222 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238611 S 1 0 1 "" NA18507 nsv514081 2 88941152 89043848 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628480 S 1414 0 0 "" nsv874586 2 88941193 89132524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503284 S 6533 0 1 "" SP52025 dgv642n67 2 88941517 88942139 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829507,nsv829506 M 31 0 2 "" NA18972,NA18973 nsv498928 2 88941533 89223181 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585789 S 9 0 1 "" nsv829508 2 88942139 88942580 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423215,nssv1434258 M 31 0 2 "" NA18570,NA18999 dgv643n67 2 88942139 88984919 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829518,nsv829509,nsv829517,nsv829516 M 31 0 6 "" NA18537,NA18564,NA18570,NA18582,NA18997,NA18999 dgv644n67 2 88942139 89057473 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829515,nsv829511,nsv829510 M 31 0 8 "" NA18526,NA18542,NA18547,NA18942,NA18947,NA18949,NA18951,NA18972 dgv645n67 2 88942139 89223163 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829512,nsv829521 M 31 0 2 "" NA18968,NA18973 dgv646n67 2 88942139 89326403 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829527,nsv829513,nsv829524 M 31 0 4 "" AK20,NA18547,NA18552,NA18969 nsv436289 2 88942155 89223494 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465914 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2544465 2 88942185 88966886 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336177 S 1 0 0 "" NA18507 nsv499811 2 88942547 88966785 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585528 S 9 0 0 "" nsv499789 2 88942551 88978418 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585529 S 9 0 0 "" nsv821437 2 88942576 89411510 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420226 S 1 0 1 "" NA10851 dgv647n67 2 88942581 89015915 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829520,nsv829519 M 31 0 2 "" NA18566,NA18592 nsv201 2 88957223 89211296 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv201 S 1 0 0 "" NA15510 nsv829522 2 88966434 88966932 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437851,nssv1437298,nssv1438019,nssv1438374 M 31 0 4 "" NA18547,NA18592,NA18949,NA18951 nsv499112 2 88966786 89240350 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585530 S 9 0 0 "" esv1004021 2 88966933 88978459 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587161 S 3 1 0 "" HuRef nsv438361 2 88972906 89054469 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471050,nssv471055,nssv471052,nssv471061,nssv471058,nssv471054,nssv471056,nssv471063,nssv471062,nssv471049,nssv471053,nssv471064,nssv471059,nssv471060,nssv471051 M 269 0 15 Samples from several populations that are part of the HapMap project. "" NA06993,NA06994,NA07048,NA10830,NA10835,NA10839,NA10855,NA10856,NA11839,NA12005,NA12236,NA12248,NA12760,NA12872,NA12873 nsv819039 2 88989295 89325193 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418802 S 2 1 0 "" AK1 nsv829523 2 88993617 89104701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430424 S 31 0 1 "" AK16 nsv829526 2 89021932 89035435 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423216 S 31 0 1 "" NA18999 esv991560 2 89028510 89073597 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575554 S 3 0 1 "" HuRef dgv4229n71 2 89029231 89929625 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874587,nsv874590,nsv874591 M 6533 3 0 "" IS39788,IS39900,IS40245 esv8109 2 89051542 89078267 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30550 S 1 0 1 "" SJK nsv829528 2 89055799 89146769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438020 S 31 0 1 "" NA18951 nsv820608 2 89056791 89078186 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420227 S 1 0 1 "" NA10851 nsv829529 2 89073680 89087837 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424769 S 31 0 1 "" NA18947 nsv829530 2 89073680 89102002 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436428 S 31 0 1 "" NA18542 dgv648n67 2 89073680 89256687 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829532,nsv829531 M 31 0 2 "" NA18526,NA18949 nsv435727 2 89106667 89256990 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465915 S 2 0 1 "" NA15510 dgv4230n71 2 89166734 89731562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874589,nsv874588 M 6533 0 3 "" IS35347,IS37752,IS38054 nsv834293 2 89169750 89384146 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442063,nssv1442072,nssv1442065,nssv1442064,nssv1442071,nssv1442069,nssv1442059,nssv1442066,nssv1442070,nssv1442076,nssv1442077,nssv1442060,nssv1442068,nssv1442067,nssv1442075,nssv1442061 M 95 0 16 "" nsv829533 2 89181448 89324196 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438396 S 31 0 1 "" NA18547 nsv469754 2 89221366 89377644 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649775 M 265 0 2 Samples from several populations that are part of the HapMap project. "" nsv829534 2 89231429 89283254 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438664 S 31 0 1 "" NA18973 esv33526 2 89233647 89256485 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98120 S 51 1 0 "" 22259 nsv829535 2 89256256 89301168 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440210 S 31 0 1 "" NA18564 esv32965 2 89263383 89902371 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97578,essv98234,essv99771,essv99833,essv98041,essv100511,essv100309,essv94236 M 51 3 5 "" 21616,21772,22086,22259,22298,22300,22394 nsv834294 2 89304385 89405295 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442082,nssv1442078,nssv1442081,nssv1442080,nssv1442079 M 95 0 5 "" nsv874594 2 89315071 89624365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499934 S 6533 0 1 "" SP50118 nsv821121 2 89325462 89411498 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420228 S 1 1 0 "" NA10851 dgv649n67 2 89377432 89411499 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829542,nsv829541,nsv829538 M 31 7 0 "" AK10,AK16,NA18542,NA18552,NA18969,NA18973,NA18999 nsv820894 2 89377432 89411499 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420229 S 1 1 0 "" NA10851 dgv650n67 2 89377632 89400635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829540,nsv829539 M 31 2 0 "" NA18547,NA18570 esv2378142 2 89388935 89389464 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517975 S 1 0 1 "" NA18507 nsv213540 2 89388980 89389116 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232118 M 24 "" dgv83e180 2 89389113 89389256 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988607,esv993359 M 3 0 1 "" HuRef nsv214100 2 89389124 89389259 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232678 M 24 "" nsv874595 2 89409854 89731562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563641,nssv1576407,nssv1580611 M 6533 0 3 "" IS34057,IS35390,MS26144 nsv874596 2 89410988 89750050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505529 S 6533 1 0 "" SP53601 esv21923 2 89561597 89958801 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21212,esv10812,esv12921,esv13484,esv10724,esv12551,esv14136,esv19855,esv14187,esv11654,esv14832,esv14801,esv17466,esv14334,esv13261,esv20981,esv15572,esv10490,esv13121 M 451 37 12 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv2825 2 89571971 89645064 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6857 S 9 0 1 "" NA12156 dgv4232n71 2 89586112 89929625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874605,nsv874609,nsv874611,nsv874620,nsv874598 M 6533 0 6 "" SP50061,SP50073,SP50530,SP54370,SP54782,SP57507 nsv874600 2 89603161 89666286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499996 S 6533 0 1 "" SP50109 dgv4233n71 2 89603161 89714801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874617,nsv874615,nsv874603,nsv874601,nsv874606,nsv874602,nsv874614 M 6533 0 8 "" SP50940,SP52390,SP54747,SP55424,SP55937,SP56003,SP56089,SP56154 dgv4234n71 2 89603161 89791932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874607,nsv874604 M 6533 0 3 "" SP51338,SP57856,SP81036 dgv651n67 2 89612771 89876449 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829546,nsv829545,nsv829544,nsv829543 M 31 0 5 "" AK10,AK16,NA18552,NA18969,NA18973 nsv829547 2 89612771 89914612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423218 S 31 1 0 "" NA18999 nsv820202 2 89613964 89731311 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418775 S 2 1 0 "" AK1 nsv821334 2 89614897 89682138 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420230 S 1 0 1 "" NA10851 nsv829549 2 89614897 89682138 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438021 S 31 0 1 "" NA18951 dgv4235n71 2 89616556 89911010 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874610,nsv874608,nsv874618,nsv874625,nsv874616 M 6533 6 0 "" IS35129,IS35179,IS40819,SP50543,SP52497,SP54789 nsv874612 2 89616556 89929625 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514820,nssv1505381,nssv1503865 M 6533 1 2 "" SP52122,SP53448,SP56085 nsv442795 2 89636367 89912071 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv829550 2 89637918 89682138 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440211 S 31 0 1 "" NA18564 esv2421971 2 89639248 89915429 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053322,essv5056711,essv5027295,essv5161214,essv5129128,essv5088372,essv5057763,essv5012731,essv5007290,essv5053960,essv5133650,essv5076211,essv5065731,essv5111657,essv5055821,essv5158061,essv5139984,essv5132977,essv5079340,essv5157417,essv5064009,essv5015115,essv5073821,essv5104895,essv5128910,essv5127770,essv5095194,essv5152732,essv5091598,essv5117277,essv5099931,essv5100485,essv5025588,essv5027374,essv5146069,essv5062818,essv5077685,essv5083473,essv5004678,essv5134497,essv5150500,essv5068976,essv5143491,essv5019844,essv5121959,essv5005245,essv5137460,essv5004891,essv5139016,essv5061061,essv5046533,essv5026115,essv5014434,essv5075214,essv5081931,essv5098321,essv5103481,essv5153597,essv5095422,essv5095668,essv5012007,essv5121281,essv5136080,essv5124654,essv5160232,essv5005247,essv5100371,essv5070941,essv5087190,essv5084293,essv5086710,essv5018674,essv5124900,essv5152099,essv5038078,essv5018725,essv5038539,essv5034230,essv5095766,essv5050739,essv5141182,essv5150118,essv5128089,essv5125483,essv5145310,essv5148648,essv5002358,essv5025509,essv5150611,essv5064404,essv5132123,essv5037609,essv5031135,essv5012006,essv5125208,essv5148462,essv5005264,essv5152356,essv5160831,essv5100192,essv5080050,essv5019617,essv5043666,essv5093590,essv5043094,essv5032943,essv5068611,essv5121728,essv5117168,essv5060413,essv5092117,essv5047970,essv5009503,essv5064182,essv5111255,essv5021429,essv5124747,essv5028166,essv5130391,essv5142135,essv5113176,essv5116119,essv5091568,essv5134670,essv5060437,essv5028924,essv5044515,essv5034090,essv5062185,essv5070820,essv5036518,essv5160539,essv5136663,essv5109176,essv5097388,essv5145487,essv5007463,essv5035152,essv5039570,essv5127757,essv5134250,essv5144204,essv5112371,essv5073192 M 1184 14 130 "" NA06991,NA06993,NA06997,NA07031,NA07345,NA10843,NA11893,NA11919,NA11931,NA12044,NA12272,NA12275,NA12340,NA12386,NA12399,NA12707,NA12802,NA12814,NA12865,NA12875,NA17999,NA18125,NA18148,NA18158,NA18484,NA18485,NA18486,NA18487,NA18500,NA18501,NA18503,NA18505,NA18507,NA18532,NA18534,NA18545,NA18552,NA18577,NA18610,NA18614,NA18647,NA18674,NA18868,NA18917,NA18924,NA18930,NA18959,NA18963,NA18969,NA18973,NA18978,NA18981,NA18987,NA18990,NA18994,NA18995,NA18999,NA19010,NA19027,NA19035,NA19057,NA19063,NA19078,NA19085,NA19127,NA19129,NA19137,NA19139,NA19179,NA19180,NA19189,NA19191,NA19209,NA19214,NA19224,NA19226,NA19308,NA19316,NA19328,NA19347,NA19371,NA19373,NA19376,NA19393,NA19396,NA19397,NA19398,NA19403,NA19404,NA19428,NA19436,NA19440,NA19452,NA19467,NA19625,NA19723,NA19724,NA19726,NA19727,NA19773,NA19775,NA20126,NA20128,NA20276,NA20279,NA20282,NA20284,NA20294,NA20295,NA20301,NA20302,NA20334,NA20335,NA20342,NA20525,NA20753,NA20766,NA20770,NA20775,NA20778,NA20790,NA20800,NA20828,NA21098,NA21119,NA21302,NA21303,NA21317,NA21352,NA21364,NA21381,NA21382,NA21383,NA21385,NA21414,NA21434,NA21438,NA21440,NA21517,NA21526,NA21529,NA21575,NA21578,NA21583 nsv874619 2 89643414 89731562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500238 S 6533 0 1 "" SP50118 nsv469896 2 89658354 89833000 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649917 M 265 6 24 Samples from several populations that are part of the HapMap project. "" nsv874621 2 89666286 89810766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517203 S 6533 0 1 "" SP57208 nsv818070 2 89675384 89877778 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417629,nssv1416914,nssv1416915,nssv1416005,nssv1417663,nssv1417247,nssv1416116 M 112 0 7 "" NA06991,NA06993,NA18577,NA18987,NA18994,NA19137,NA19139 nsv438362 2 89675676 89905076 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471065,nssv471070,nssv471074,nssv471072,nssv471067,nssv471081,nssv471069,nssv471076,nssv471075,nssv471071,nssv471077,nssv471066,nssv471073,nssv471078,nssv471080 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA06991,NA06993,NA10831,NA12802,NA12814,NA12865,NA12875,NA18500,NA18505,NA19137 nsv458607 2 89682168 89757456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535519 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00105 nsv458618 2 89682168 89877778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535530 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv874622 2 89682553 89750050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515985 S 6533 1 0 "" SP56331 nsv874623 2 89682553 89810766 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525051,nssv1591787,nssv1559405 M 6533 1 2 "" IS39022,MS23957,SP55473 dgv1219e1 2 89682553 89905810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12150,essv9278,essv24943,essv1314,essv24354,essv5972,essv18887,essv23153,essv13332 M 271 0 0 "" NA10831,NA10839,NA12707,NA12717,NA18500,NA18505,NA18552,NA18973,NA19137 dgv4236n71 2 89682553 89929625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874646,nsv874628,nsv874624,nsv874645,nsv874632,nsv874630,nsv874643,nsv874640,nsv874644 M 6533 0 32 "" IS30332,IS31346,IS38557,IS39373,IS39722,IS40186,IS40838,MS11049,MS12398,MS14947,MS15782,SP50109,SP50144,SP50574,SP50940,SP51352,SP52721,SP53413,SP54792,SP55424,SP55547,SP55565,SP55864,SP55937,SP55986,SP56003,SP56089,SP56126,SP56154,SP57379,SP57404,SP58180 dgv4237n71 2 89705974 89885025 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874631,nsv874627 M 6533 2 0 "" IS39388,MS23472 nsv433202 2 89714801 89757456 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463083 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 dgv4238n71 2 89714801 89942359 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv874636,nsv874634,nsv874635,nsv874633,nsv874629,nsv874647 M 6533 21 176 "" IS30143,IS30171,IS30193,IS30267,IS30301,IS30363,IS30406,IS30412,IS30435,IS30597,IS30653,IS31213,IS31323,IS31371,IS31651,IS31758,IS32150,IS32282,IS32429,IS32806,IS32810,IS32998,IS33055,IS33419,IS33460,IS33553,IS33587,IS33630,IS33726,IS33776,IS33786,IS33867,IS34057,IS34289,IS34340,IS34356,IS34570,IS34750,IS35072,IS35076,IS35100,IS35140,IS35145,IS35189,IS35210,IS35255,IS35270,IS35342,IS35408,IS35492,IS35528,IS35545,IS35608,IS35728,IS35833,IS36364,IS36612,IS36789,IS36909,IS36910,IS36975,IS36981,IS37167,IS37446,IS37498,IS37752,IS37766,IS37874,IS38016,IS38114,IS38122,IS38166,IS38268,IS38303,IS38308,IS38378,IS38436,IS38475,IS38503,IS38612,IS38646,IS38648,IS38736,IS38846,IS39393,IS39428,IS39783,IS40039,IS40063,IS40192,IS40291,IS40343,IS40433,IS40487,IS40618,IS40795,IS40920,IS41041,IS41166,IS41319,IS41448,IS41768,IS41788,IS41830,IS41842,IS41870,IS41933,IS41949,IS41956,MS10593,MS10733,MS10802,MS11054,MS11284,MS11609,MS12092,MS12331,MS12886,MS13129,MS13400,MS14266,MS14334,MS14454,MS14764,MS15041,MS15175,MS15341,MS15511,MS15672,MS15813,MS16107,MS16252,MS16493,MS16643,MS16859,MS16968,MS17130,MS17689,MS17820,MS17902,MS18256,MS18648,MS18788,MS18979,MS19246,MS19397,MS19700,MS21189,MS23257,MS24151,MS24260,MS24275,MS24752,MS25025,MS25553,MS25564,MS25589,MS25675,MS25699,MS26069,SP50080,SP50177,SP50575,SP50612,SP50660,SP50746,SP51259,SP52329,SP52713,SP52859,SP52872,SP53262,SP53303,SP53426,SP53471,SP53857,SP53895,SP55126,SP55179,SP55423,SP56356,SP56381,SP56395,SP56805,SP56840,SP57005,SP57042,SP57044,SP58467,SP81046,SP81080,SP81108,SP81135,SP81145,SP81226,SP81364,SP81464 nsv874638 2 89723282 89771345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506722 S 6533 0 1 "" SP54399 dgv4239n71 2 89723282 89810766 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874642,nsv874639,nsv874641 M 6533 0 20 "" SP50118,SP50753,SP50979,SP51031,SP51062,SP51353,SP52165,SP52377,SP52676,SP53320,SP54661,SP54684,SP54935,SP55077,SP55174,SP55946,SP57455,SP57469,SP57577,SP80982 nsv514082 2 89731560 89755992 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628491 S 1414 0 0 "" nsv834295 2 89734710 89904141 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442083 S 95 1 0 "" nsv834296 2 89739666 89947275 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442084,nssv1442095,nssv1442089,nssv1442094,nssv1442086,nssv1442088,nssv1442087,nssv1442090,nssv1442091,nssv1442092,nssv1442093 M 95 0 11 "" nsv818071 2 89743465 89877778 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415741,nssv1415740 M 112 0 2 "" NA12865,NA12875 dgv652n67 2 89751033 89914612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829552,nsv829551,nsv829553 M 31 6 0 "" AK14,AK18,AK2,AK20,AK6,AK8 nsv437480 2 89751524 89771625 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467361 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA06991 dgv7n43 2 89753412 89893212 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv819973,nsv819384 M 2 1 0 "" AK1 dgv21n14 2 89810766 89915429 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433203,nsv433204 M 9 0 2 "" NA18507,NA19129 essv3620 2 89820789 89905810 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18966 dgv4240n71 2 89830526 89929625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874648,nsv874649 M 6533 0 2 "" SP54816,SP81047 nsv874650 2 89835124 89911010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511960 S 6533 1 0 "" SP55212 dgv60n17 2 89844163 89891916 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437502,nsv437491 M 60 0 2 "" NA06991,NA12802 nsv820534 2 89845979 89889300 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420231 S 1 0 1 "" NA10851 dgv4242n71 2 89846059 89929625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874654,nsv874656,nsv874655,nsv874652 M 6533 0 10 "" SP50904,SP51338,SP52231,SP52390,SP52582,SP53287,SP54399,SP57208,SP57469,SP57856 nsv874653 2 89857702 89911010 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501116,nssv1518533,nssv1518440 M 6533 1 2 "" SP50979,SP57577,SP57671 dgv1222e1 2 89859973 89905810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24167,essv13262 M 271 0 0 "" NA12751,NA19201 nsv2826 2 89866879 89935091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5804,nssv9573,nssv10222 M 9 0 3 "" NA18507,NA18956,NA19129 nsv514083 2 89867504 89878056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628502 S 1414 0 0 "" dgv469n27 2 89873958 89877778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458629,nsv458651,nsv458663,nsv458640 M 1557 0 4 "" HGDP00521,HGDP00607,HGDP00640,HGDP00694 nsv818072 2 89873958 89877778 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415616,nssv1415618,nssv1415938 M 112 0 3 "" NA10835,NA12248,NA12751 nsv819487 2 89893212 89914612 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418686 S 2 1 0 "" AK1 nsv2827 2 89901062 89914116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2277,nssv1515 M 9 2 0 "" NA18555,NA19240 nsv499544 2 89904275 89904353 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586338 S 9 1 0 "" dgv1223e1 2 90958831 91153825 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3038,essv12820,essv426,essv15497 M 271 0 0 "" NA18505,NA18952,NA18981,NA19120 dgv1224e1 2 90958831 91481691 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1854,essv1285,essv17591,essv4737,essv11577,essv20060 M 271 0 0 GGT8P,LOC654342 NA07048,NA12762,NA18620,NA18976,NA18995,NA19173 esv24566 2 90958955 90980280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21283 S 451 0 23 "" NA07037,NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA12239,NA12489,NA12749,NA12776,NA12828,NA18505,NA18508,NA18511,NA18517,NA18523,NA18907,NA18909,NA18916,NA19129,NA19147,NA19257 esv7570 2 90959416 90978033 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30011 S 1 0 1 "" SJK esv2580578 2 90960600 90968495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223933 S 1 0 1 "" NA18507 esv8065 2 90960845 90972737 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30506 S 1 0 1 "" SJK dgv80e19 2 90961028 90968040 CNV Loss Ahn et al 2009 19470904 Sequencing esv6530,esv9382 M 1 0 1 "" SJK dgv81e19 2 90962485 90978057 CNV Loss Ahn et al 2009 19470904 Sequencing esv8007,esv5908,esv5904,esv7128,esv6872,esv9218 M 1 0 1 "" SJK esv4228 2 90962801 90975361 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26669 S 1 0 0 Single Asian sample YH "" YH esv6893 2 90963380 90965574 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29334 S 1 0 1 "" SJK nsv435996 2 90963979 90964120 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465916 S 2 1 0 "" NA15510 nsv436266 2 90964083 90975819 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465919 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv5956 2 90966770 90972988 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28397 S 1 0 1 "" SJK esv6682 2 90969756 90974987 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29123 S 1 0 1 "" SJK esv6367 2 90971577 90976508 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28808 S 1 0 1 "" SJK dgv653n67 2 90979707 91042320 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829555,nsv829554 M 31 3 0 "" AK2,AK4,NA18537 dgv654n67 2 90979707 91059423 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829557,nsv829556 M 31 12 0 "" AK12,AK14,AK18,AK20,AK6,NA18542,NA18564,NA18942,NA18949,NA18951,NA18968,NA18999 nsv10074 2 90979880 90982958 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28092 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv507023 2 90983966 90989966 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617566 S 4 1 0 "" CHM esv991681 2 90998658 90999292 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565257 S 3 0 1 "" HuRef esv9078 2 90998822 90999325 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31519 S 1 0 1 "" SJK nsv834297 2 91004934 91059347 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442097 S 95 1 0 "" nsv436269 2 91022905 91336571 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465920 S 2 0 1 Samples from several populations that are part of the HapMap project. GGT8P,LOC654342 NA18505 esv7616 2 91034012 91034363 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30057 S 1 0 1 "" SJK nsv10075 2 91035470 91041729 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29120,nssv27625 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18552,NA18972 nsv10076 2 91043239 91049293 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28598,nssv28301,nssv25184 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA19144,NA19173 dgv62n16 2 91043470 91049772 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436274,nsv435709 M 2 0 2 "" NA15510,NA18505 esv6195 2 91043501 91049253 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28636 S 1 0 1 "" SJK esv26760 2 91043644 91049234 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11124 S 451 3 0 "" NA18508,NA18523,NA19099 nsv2828 2 91049291 91072397 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6859,nssv1517,nssv5806,nssv2279 M 9 4 0 "" NA12156,NA18555,NA19129,NA19240 nsv508851 2 91049969 91085908 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619910 S 4 1 0 "" NA10860 esv23788 2 91054055 91336829 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19045,esv19207,esv13565,esv13483,esv13126,esv19101,esv11381 M 451 9 2 GGT8P,LOC654342 NA06985,NA11894,NA12044,NA12239,NA12287,NA18505,NA18858,NA19108,NA19114,NA19129,NA19147 nsv10077 2 91076624 91091307 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28361 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 essv19413 2 91101204 91185602 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv2829 2 91101527 91156349 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1518,nssv11016,nssv10223,nssv4437,nssv2280,nssv9350 M 9 0 6 "" NA12878,NA15510,NA18517,NA18555,NA18956,NA19240 nsv10078 2 91104998 91115705 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27733,nssv29157 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18552,NA19221 nsv212 2 91110437 91156349 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv212 S 1 0 1 "" NA15510 esv1956291 2 91114696 91123644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599497 S 1 0 1 "" NA18507 nsv498929 2 91114789 91123596 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585790 S 9 0 1 "" dgv655n67 2 91123606 91133634 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829560,nsv829558 M 31 2 0 "" NA18942,NA18997 nsv829561 2 91123606 91142144 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424319 S 31 1 0 "" NA18968 dgv656n67 2 91123606 91154761 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829563,nsv829564,nsv829567,nsv829562,nsv829566,nsv829565 M 31 7 0 "" AK12,AK18,AK6,NA18564,NA18949,NA18951,NA18999 nsv829568 2 91123606 91159774 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436432 S 31 1 0 "" NA18542 nsv829569 2 91123606 91327013 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429646 S 31 1 0 LOC654342 AK14 esv9237 2 91139419 91146631 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31678 S 1 0 0 "" SJK esv2256999 2 91147913 91148919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986477 S 1 0 1 "" NA18507 nsv213368 2 91148023 91148798 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231946 M 24 "" dgv1225e1 2 91156741 91481691 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7528,essv7816,essv17184,essv19529,essv21564 M 271 0 0 GGT8P,LOC654342 NA12864,NA12873,NA18545,NA18558,NA19171 essv16223 2 91195639 91353691 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GGT8P,LOC654342 NA19161 nsv10079 2 91206208 91218105 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29187 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC654342 NA19221 nsv2830 2 91216957 91250162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4438 S 9 1 0 "" NA12878 nsv10080 2 91236318 91238784 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29217 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv834298 2 91240419 91390314 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442098 S 95 0 1 GGT8P nsv829571 2 91270111 91327013 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424820 S 31 1 0 "" AK2 nsv10081 2 91275698 91289963 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27152,nssv28446,nssv27720,nssv25706,nssv28351,nssv28991,nssv27273 M 31 6 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA12872,NA18517,NA18537,NA18860,NA19132 nsv511172 2 91292351 91314409 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626243 S 1 0 1 "" 1 dgv1226e1 2 91303002 91619119 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18184,essv12180,essv3886,essv494 M 271 0 0 ACTR3BP2,GGT8P NA12057,NA18952,NA18994,NA19101 nsv10082 2 91324542 91336794 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28486,nssv28400,nssv28427,nssv27282,nssv25951 M 31 4 1 Samples from several populations that are part of the HapMap project. GGT8P NA12155,NA12872,NA18537,NA18860,NA19132 nsv829572 2 91391623 91436028 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424821 S 31 1 0 "" AK2 nsv10083 2 91391644 91410359 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29247 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv26496 2 91392249 91422781 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14039 S 451 1 0 "" NA19108 esv29773 2 91425163 91428325 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11985 S 451 1 0 "" NA19257 nsv10085 2 91431527 91539054 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25464,nssv27402,nssv28142,nssv27506 M 31 1 3 Samples from several populations that are part of the HapMap project. ACTR3BP2 NA11830,NA18502,NA18537,NA19144 esv22000 2 91506043 91552104 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17231 S 451 3 0 "" NA18861,NA19147,NA19257 nsv10086 2 91555058 91565805 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25705 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv834299 2 91607653 91629888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442099 S 95 1 0 "" nsv829573 2 91616881 91626745 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429647,nssv1424822 M 31 2 0 "" AK14,AK2 nsv829574 2 91624303 91626897 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425587,nssv1431161 M 31 2 0 "" AK18,AK4 esv25131 2 91631400 91689745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20861,esv16209,esv19224,esv17879 M 451 0 5 "" NA11995,NA12006,NA18907,NA19129,NA19257 dgv82e19 2 91637037 91687139 CNV Loss Ahn et al 2009 19470904 Sequencing esv5657,esv6057,esv7341,esv8637,esv9200,esv7123 M 1 0 1 "" SJK esv9421 2 91638647 91661696 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31862 S 1 0 1 "" SJK nsv436070 2 91639381 91640971 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465923 S 2 1 0 "" NA15510 esv4295 2 91639569 91687159 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26736 S 1 0 0 Single Asian sample YH "" YH esv7436 2 91639708 91650464 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29877 S 1 0 1 "" SJK esv7953 2 91639845 91644974 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30394 S 1 0 1 "" SJK esv3046 2 91645040 91670066 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25487 S 1 0 0 Single Asian sample YH "" YH dgv83e19 2 91648115 91669816 CNV Loss Ahn et al 2009 19470904 Sequencing esv6818,esv7594,esv7306 M 1 0 1 "" SJK nsv436069 2 91648159 91650453 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465924 S 2 1 0 "" NA15510 esv1417339 2 91649040 91649040 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095380 S 2 1 0 "" HuRef nsv436745 2 91654047 91654506 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465925 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv84e19 2 91654298 91687131 CNV Loss Ahn et al 2009 19470904 Sequencing esv8213,esv8049 M 1 0 1 "" SJK dgv85e19 2 91654667 91676656 CNV Loss Ahn et al 2009 19470904 Sequencing esv5949,esv6521 M 1 0 1 "" SJK esv6252 2 91654895 91660448 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28693 S 1 0 1 "" SJK esv6056 2 91655042 91664436 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28497 S 1 0 1 "" SJK dgv63n16 2 91656938 91676390 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436859,nsv436067 M 2 2 0 "" NA15510,NA18505 nsv436068 2 91660537 91664685 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465928 S 2 1 0 "" NA15510 dgv86e19 2 91660631 91670528 CNV Loss Ahn et al 2009 19470904 Sequencing esv8662,esv9034 M 1 0 1 "" SJK esv5487 2 91661295 91684127 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27928 S 1 0 1 "" SJK esv8572 2 91664479 91669587 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31013 S 1 0 1 "" SJK dgv87e19 2 91667679 91679945 CNV Loss Ahn et al 2009 19470904 Sequencing esv7473,esv6884 M 1 0 1 "" SJK esv7715 2 91669476 91670529 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30156 S 1 0 1 "" SJK esv5878 2 91670072 91684825 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28319 S 1 0 1 "" SJK esv8154 2 91671837 91673193 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30595 S 1 0 1 "" SJK esv6447 2 91673903 91684125 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28888 S 1 0 1 "" SJK nsv435995 2 91676534 91676596 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465930 S 2 1 0 "" NA15510 esv6346 2 91676771 91682352 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28787 S 1 0 1 "" SJK esv8867 2 91680282 91682100 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31308 S 1 0 1 "" SJK esv7828 2 91681080 91687906 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30269 S 1 0 1 "" SJK esv8281 2 91682921 91687271 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30722 S 1 0 1 "" SJK esv25085 2 94689944 94777006 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21316 S 451 1 0 "" NA18505 nsv829575 2 94691169 94782649 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424823 S 31 1 0 "" AK2 nsv10087 2 94704265 94780690 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28197 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 essv23304 2 94722526 94914685 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD20A8P,LOC442028,LOC90499,TEKT4 NA12264 dgv1227e1 2 94722526 94983835 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11561,esv611 M 271 0 0 ANKRD20A8P,LOC442028,LOC90499,TEKT4 NA19173 esv24702 2 94785168 94932793 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14402,esv13693,esv15524,esv18118 M 451 5 0 ANKRD20A8P,LOC442028,LOC90499,TEKT4 NA12156,NA18505,NA18858,NA18916,NA19108 nsv10088 2 94792183 94820395 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29150,nssv28467,nssv27833,nssv28526,nssv11490 M 31 3 2 Samples from several populations that are part of the HapMap project. ANKRD20A8P NA12155,NA18552,NA18972,NA19132,NA19221 esv1002390 2 94858083 94858083 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566650 S 3 1 0 ANKRD20A8P HuRef nsv511795 2 94864041 94930823 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626446 S 1 0 1 ANKRD20A8P,LOC442028,TEKT4 1 nsv10089 2 94888479 94920293 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27505,nssv28507,nssv27514,nssv27393 M 31 3 0 Samples from several populations that are part of the HapMap project. LOC442028,TEKT4 NA10863,NA12155,NA18537 nsv511796 2 94890801 94913461 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626447 S 1 0 1 LOC442028,TEKT4 1 esv6894 2 94892196 94911772 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29335 S 1 0 1 LOC442028,TEKT4 SJK nsv482052 2 94900959 94906295 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558413 S 1 1 0 LOC442028,TEKT4 KB1 nsv511797 2 94922058 94924913 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626448 S 1 0 1 LOC442028 1 nsv10090 2 94926205 94941925 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26564,nssv27616,nssv27820,nssv28383,nssv27396 M 31 0 5 Samples from several populations that are part of the HapMap project. LOC442028 NA07048,NA10839,NA11830,NA12740,NA18853 esv2559479 2 94956274 94956294 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169162 S 1 1 0 LOC442028 NA18507 nsv10091 2 94959391 94971516 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28247 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC442028 NA18563 esv25115 2 94962035 94975242 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16773 S 451 1 0 LOC442028 NA18505 nsv2831 2 94981294 95026057 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7525 S 9 0 1 "" NA12156 esv2422150 2 95094701 95099193 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5148896,essv5087708,essv5069305,essv5041983,essv5076463,essv5095751,essv5092352,essv5111468,essv5122724,essv5097273,essv5071977,essv5042232,essv5106514,essv5114651,essv5153953,essv5025331,essv5037625,essv5021022 M 1184 0 18 "" NA17965,NA17996,NA17998,NA18105,NA18109,NA18122,NA18136,NA18152,NA18526,NA18566,NA18610,NA18964,NA18965,NA18968,NA18987,NA19000,NA19086,NA19760 nsv441769 2 95094701 95099193 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv657n67 2 95097920 95100142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829577,nsv829576 M 31 0 5 "" AK16,NA18526,NA18547,NA18566,NA18968 esv2025300 2 95152225 95152668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934562 S 1 0 1 "" NA18507 esv1774443 2 95224992 95225963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106042 S 2 0 1 "" HuRef nsv528011 2 95294945 95420738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704539 S 2026 0 1 KCNIP3,PROM2 dgv1228e1 2 95333865 95516286 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv51,essv20018 M 271 0 0 FAHD2A,KCNIP3,TRIM43B NA07048 nsv829578 2 95373919 95378913 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433506 S 31 1 0 KCNIP3 NA18526 nsv829579 2 95375290 95378101 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432671 S 31 1 0 KCNIP3 NA18972 nsv7320 2 95425000 95715707 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10224,nssv11017 M 9 0 0 FAHD2A,TRIM43,TRIM43B NA15510,NA18956 nsv834300 2 95451694 95701284 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442102,nssv1442101,nssv1442100 M 95 3 0 TRIM43,TRIM43B nsv874660 2 95454859 96032861 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592592 S 6533 1 0 TRIM43,TRIM43B IS39243 nsv222 2 95461914 95715690 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv222 S 1 0 0 TRIM43,TRIM43B NA15510 nsv516044 2 95514686 96047105 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677534,nssv665872,nssv697124,nssv704059 M 2026 2 2 LOC729234,TRIM43 nsv510883 2 95517031 95618696 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618603 S 4 0 0 "" CHM nsv436703 2 95524774 95613289 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465932 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv5804 2 95574632 95574913 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28245 S 1 0 0 "" SJK nsv834301 2 95649489 95790973 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442103 S 95 1 0 "" esv22829 2 95655583 95755308 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18352 S 451 1 0 "" NA12156 dgv4243n71 2 95698124 95823040 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874663,nsv874661 M 6533 2 0 "" MS19341,MS24329 dgv4244n71 2 95698124 95960242 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874662,nsv874665 M 6533 2 0 "" MS11750,MS16176 nsv874664 2 95734298 95897859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532081 S 6533 1 0 "" MS10709 nsv874666 2 95734298 96054852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538303 S 6533 1 0 GPAT2,LOC729234 MS13621 nsv10092 2 95735204 95836571 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28192,nssv11520 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 esv1190364 2 95788947 95789473 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110448 S 2 0 1 "" HuRef nsv7322 2 95790526 96051602 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1519 S 9 0 0 GPAT2,LOC729234 NA19240 nsv834303 2 95796662 95915431 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442104 S 95 1 0 "" nsv499420 2 95823438 96059691 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585532 S 9 0 0 GPAT2,LOC729234 dgv4245n71 2 95828928 95964296 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874668,nsv874667 M 6533 2 0 "" SP55926,SP58215 nsv834304 2 95857272 96031199 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442105 S 95 1 0 "" esv23783 2 95879317 95891567 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20639 S 451 2 0 "" NA18861,NA19108 nsv821038 2 95879317 95891567 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420232 S 1 1 0 "" NA10851 nsv10093 2 95887886 95947062 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27156,nssv25461 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18572,NA18980 nsv508154 2 95898063 95973652 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622814 S 4 0 1 "" NA18994 nsv874669 2 95911547 96054852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560110,nssv1552326 M 6533 2 0 GPAT2,LOC729234 MS19341,MS24329 esv1010947 2 95913041 95950037 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586399 S 3 1 0 "" HuRef nsv2833 2 95915217 95933359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1520 S 9 1 0 "" NA19240 esv2373290 2 95918137 95923961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799510 S 1 0 1 "" NA18507 nsv818073 2 95918578 96047105 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415619 S 112 1 0 LOC729234 NA12248 esv26489 2 95920350 95943460 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16343 S 451 0 1 "" NA12414 nsv820407 2 95955189 95987142 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420233 S 1 1 0 "" NA10851 esv25783 2 95955189 96011581 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14492,esv21137 M 451 3 0 "" NA18861,NA19108,NA19257 esv5003 2 95979376 97182828 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27444 S 1 0 0 Single Asian sample YH ADRA2B,ANKRD23,ANKRD36,ANKRD39,ARID5A,ASTL,CIAO1,CNNM3,CNNM4,DUSP2,FAHD2B,FAM178B,FER1L5,GPAT2,ITPRIPL1,KIAA1310,LMAN2L,LOC285033,LOC729234,MIR3127,NCAPH,NEURL3,SEMA4C,SNRNP200,STARD7,TMEM127 YH nsv508100 2 95997769 96003769 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621528 S 4 0 1 "" NA15510 nsv874670 2 96001597 96057084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532082 S 6533 1 0 GPAT2,LOC729234 MS10709 dgv4246n71 2 96001597 96105671 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874674,nsv874671 M 6533 2 0 GPAT2,LOC729234 MS16176,MS25939 dgv4247n71 2 96001597 96189090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874672,nsv874673 M 6533 0 2 ADRA2B,ASTL,DUSP2,GPAT2,LOC729234 MS16153,MS17208 nsv820698 2 96027257 96039035 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420234 S 1 1 0 "" NA10851 esv23030 2 96031154 96038890 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17963,esv14059 M 451 0 40 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv993391 2 96035248 96095581 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586398 S 3 1 0 GPAT2,LOC729234 HuRef esv23260 2 96090973 96097437 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14510,esv14131 M 451 0 5 "" NA12004,NA15510,NA18508,NA18909,NA19190 nsv821512 2 96093622 96095477 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420235 S 1 1 0 "" NA10851 dgv4248n71 2 96105671 96189090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874676,nsv874675 M 6533 0 3 ADRA2B,ASTL,DUSP2 IS32841,IS35007,IS40396 esv2205664 2 96114532 96114939 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948000 S 1 0 1 "" NA18507 esv5390 2 96114587 96114929 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27831 S 1 0 1 Single Asian sample YH "" YH esv996245 2 96114602 96114732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584564 S 3 0 1 "" HuRef esv1441601 2 96114727 96114858 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933942 S 2 0 1 "" HuRef nsv874677 2 96120274 97081072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518825 S 6533 0 1 ADRA2B,ANKRD23,ANKRD39,ARID5A,ASTL,CIAO1,CNNM3,CNNM4,DUSP2,FAM178B,FER1L5,ITPRIPL1,KIAA1310,LMAN2L,LOC285033,MIR3127,NCAPH,NEURL3,SEMA4C,SNRNP200,STARD7,TMEM127 SP58299 esv992954 2 96125289 96134704 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563737 S 3 0 1 "" HuRef nsv2834 2 96136652 96148837 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2281 S 9 0 1 ADRA2B NA18555 nsv874678 2 96141067 96150138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510662 S 6533 0 1 ADRA2B SP54988 nsv834305 2 96212625 96383203 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442108,nssv1442106,nssv1442109 M 95 3 0 CIAO1,ITPRIPL1,LOC285033,NCAPH,SNRNP200,STARD7,TMEM127 nsv525780 2 96222641 96222761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701955 S 2026 0 1 STARD7 nsv874679 2 96224698 96547887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548845 S 6533 1 0 CIAO1,ITPRIPL1,LOC285033,NCAPH,NEURL3,SNRNP200,STARD7,TMEM127 MS17879 nsv508155 2 96298422 96502029 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620186 S 4 0 1 CIAO1,ITPRIPL1,NCAPH,SNRNP200 NA15510 nsv819311 2 96403157 96403442 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419692 S 2 0 1 NCAPH AK1 nsv2835 2 96519802 96550741 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11018 S 9 1 0 NEURL3 NA15510 nsv469775 2 96604653 96776218 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649796 M 265 0 1 Samples from several populations that are part of the HapMap project. FER1L5,KIAA1310,LMAN2L nsv834306 2 96604842 96776665 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442110 S 95 0 1 FER1L5,KIAA1310,LMAN2L nsv819818 2 96624891 96630260 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419704 S 2 0 1 KIAA1310 AK1 nsv874680 2 96673301 97042046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595254 S 6533 0 1 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,FER1L5,LMAN2L,MIR3127,SEMA4C IS40197 nsv834307 2 96685174 96842993 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442111 S 95 0 1 CNNM4,FER1L5,LMAN2L,MIR3127 nsv526313 2 96697219 97024346 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702597 S 2026 0 1 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,FER1L5,LMAN2L,MIR3127,SEMA4C dgv4249n71 2 96774676 96941070 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874682,nsv874681 M 6533 0 2 ANKRD23,ANKRD39,CNNM3,CNNM4,FAM178B,MIR3127,SEMA4C IS33504,MS16153 esv259451 2 96788889 96789247 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393714 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv259734 2 96788917 96789280 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398491,essv2396285,essv2400778,essv2397692,essv2397805,essv2396478,essv2395110,essv2399590,essv2396884,essv2398322,essv2395908 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12716,NA12717,NA18502,NA18505,NA18517,NA18550,NA18570,NA18579,NA19093,NA19238 essv10696 2 96934836 97399962 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD36,FAHD2B,FAM178B,LOC100506123 NA18855 esv718 2 96934836 97702939 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ACTR1B,ANKRD36,ANKRD36B,COX5B,FAHD2B,FAM178B,LOC100506123,LOC728537,ZAP70 nsv512773 2 96964978 96965399 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625404 S 1 1 0 FAM178B 1 esv32727 2 96980215 97007702 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99809,essv99431 M 51 1 1 FAM178B 22086,22335 dgv1229e1 2 97054767 97284347 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24225,essv5380,essv7611,essv23345,essv24429,essv24991,essv251 M 271 0 0 ANKRD36,FAHD2B NA10839,NA10856,NA12707,NA12750,NA18545,NA18563,NA18948 nsv834308 2 97067647 97305800 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442112 S 95 1 0 ANKRD36,FAHD2B essv17393 2 97072338 97383943 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD36,FAHD2B,LOC100506123 NA18855 nsv470477 2 97078638 97390976 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547232,nssv547235,nssv547236,nssv547231,nssv547233 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD36,FAHD2B,LOC100506123 HGDP00551,HGDP00556,HGDP00662,HGDP00664,HGDP00978 nsv874683 2 97078881 97379953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576507,nssv1585317 M 6533 0 2 ANKRD36,FAHD2B,LOC100506123 IS34083,IS37421 nsv874684 2 97081072 97379953 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567892 S 6533 1 0 ANKRD36,FAHD2B,LOC100506123 IS31169 esv990480 2 97096646 97097285 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586143 S 3 1 0 "" HuRef esv27809 2 97096754 97097870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12109 S 451 0 1 "" NA18523 dgv4250n71 2 97097545 97529940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874692,nsv874691,nsv874690,nsv874689,nsv874685,nsv874694,nsv874686,nsv874688,nsv874693 M 6533 0 23 ANKRD36,ANKRD36B,FAHD2B,LOC100506123 IS30041,IS30189,IS30226,IS30993,IS31213,IS32719,IS33547,IS33792,IS33948,IS34310,IS35768,IS36179,IS38186,IS38441,IS38610,IS39414,IS39626,IS40954,IS41842,MS24219,SP54802,SP56114,SP56833 nsv874687 2 97116024 97241318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500151 S 6533 0 1 ANKRD36,FAHD2B SP50523 nsv10094 2 97124634 97139168 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28392,nssv28638,nssv25723,nssv28577,nssv26723,nssv28596,nssv27928,nssv28440,nssv27915,nssv27741,nssv26176,nssv27724,nssv28252,nssv28517,nssv28410,nssv26848,nssv27635,nssv27624,nssv28423,nssv29021,nssv27615,nssv27508,nssv25950,nssv25720,nssv29180,nssv28297,nssv27286,nssv27501 M 31 0 28 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 nsv820876 2 97124969 97132949 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420237 S 1 1 0 "" NA10851 esv26344 2 97125873 97136893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10932,esv15476,esv14190 M 451 0 39 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv517613 2 97131905 97390976 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656704,nssv693210,nssv668789,nssv689201,nssv689955,nssv658433,nssv687818,nssv652513,nssv661881,nssv680820,nssv654921,nssv671267 M 2026 3 9 ANKRD36,LOC100506123 nsv818074 2 97131905 97390976 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416321 S 112 0 1 ANKRD36,LOC100506123 NA18855 nsv522486 2 97131905 97631923 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705853 S 2026 1 0 ANKRD36,ANKRD36B,COX5B,LOC100506123 esv32762 2 97146519 97153371 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99078 S 51 0 1 ANKRD36 21938 nsv820355 2 97162966 97222466 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420238 S 1 1 0 ANKRD36 NA10851 esv27016 2 97162966 97241816 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12004,esv15731,esv15201 M 451 6 12 ANKRD36 NA07037,NA11894,NA12004,NA12006,NA12239,NA12414,NA18502,NA18508,NA18511,NA18517,NA18861,NA18907,NA18916,NA19099,NA19108,NA19129,NA19147,NA19257 nsv10096 2 97166443 97210755 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28480,nssv29051,nssv27743,nssv28463 M 31 2 2 Samples from several populations that are part of the HapMap project. ANKRD36 NA10839,NA18517,NA18860,NA19007 nsv213262 2 97181561 97185934 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231840 M 24 ANKRD36 nsv441770 2 97194115 97210579 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ANKRD36 nsv874695 2 97208827 97620248 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560834 S 6533 0 1 ANKRD36,ANKRD36B,LOC100506123 MS24732 nsv511798 2 97216495 97220784 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626449 S 1 0 1 ANKRD36 1 esv5691 2 97217996 97219883 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28132 S 1 0 1 ANKRD36 SJK nsv511164 2 97218271 97218931 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626155 S 1 0 1 ANKRD36 1 nsv10097 2 97221490 97281392 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25965,nssv28083,nssv27998,nssv29081,nssv27611,nssv27843,nssv25968,nssv27618,nssv27726,nssv27406,nssv27841 M 31 4 7 Samples from several populations that are part of the HapMap project. ANKRD36 NA07029,NA07048,NA12740,NA18517,NA18572,NA18975,NA18980,NA19007,NA19144 esv992727 2 97222376 97243685 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586268 S 3 1 0 ANKRD36 HuRef nsv821502 2 97222467 97241816 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420239 S 1 1 0 ANKRD36 NA10851 esv5642 2 97225724 97235075 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28083 S 1 0 1 ANKRD36 SJK nsv7323 2 97228750 97564106 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2282,nssv5808,nssv6860,nssv9575,nssv10225,nssv1522,nssv1521,nssv4440 M 9 0 0 ANKRD36,ANKRD36B,LOC100506123 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv436306 2 97230968 97239835 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465933 S 2 0 1 Samples from several populations that are part of the HapMap project. ANKRD36 NA18505 esv2598149 2 97236600 97239997 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349435 S 1 0 1 ANKRD36 NA18507 essv18990 2 97247723 97702939 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACTR1B,ANKRD36,ANKRD36B,COX5B,LOC100506123,LOC728537,ZAP70 NA12005 esv25103 2 97268708 97279631 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15122 S 451 1 0 ANKRD36 NA19108 nsv458674 2 97379953 97390976 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535586 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00788 essv17999 2 97379953 97640959 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACTR1B,ANKRD36B,COX5B,LOC100506123 NA12005 esv33267 2 97387700 97390948 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99464 S 51 1 0 "" 22335 nsv10098 2 97411671 97413583 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28450 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv214209 2 97475725 97475815 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232787 M 24 "" esv25217 2 97486374 97524574 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17208,esv12199,esv14104,esv20181 M 451 15 0 ANKRD36B NA11995,NA12004,NA12006,NA12239,NA12414,NA12749,NA15510,NA18505,NA18508,NA18511,NA18907,NA18916,NA19108,NA19190,NA19257 nsv10099 2 97488164 97514522 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27826,nssv28133,nssv29111,nssv27938 M 31 4 0 Samples from several populations that are part of the HapMap project. ANKRD36B NA07048,NA12740,NA18517,NA19007 nsv820699 2 97507052 97523161 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420240 S 1 0 1 ANKRD36B NA10851 nsv442803 2 97507179 97528142 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ANKRD36B esv2422044 2 97507179 97531181 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5047636,essv5150860,essv5016889,essv5126663,essv5082508,essv5019978,essv5057670,essv5110573,essv5091922,essv5109497,essv5153772,essv5040986,essv5098967,essv5147924,essv5047180,essv5050182,essv5140328,essv5151831,essv5159718,essv5151589,essv5031193,essv5154619,essv5055633,essv5150420,essv5107510,essv5004264,essv5053968,essv5112423,essv5074410,essv5061573,essv5110441,essv5078411,essv5112128,essv5087321,essv5070240,essv5052348,essv5090163,essv5013691,essv5026290,essv5146380,essv5096241,essv5013032,essv5004782,essv5059288,essv5142011,essv5056721,essv5016873,essv5151088,essv5137950,essv5132525,essv5075933,essv5081202,essv5135300,essv5149742,essv5091423,essv5088880,essv5109288,essv5052742,essv5076001,essv5094686,essv5136339,essv5155774,essv5081385,essv5026036,essv5118304,essv5022995,essv5013265,essv5006030,essv5108890,essv5019642,essv5045832,essv5085372,essv5045047,essv5131066,essv5124312,essv5154600,essv5016265,essv5045112,essv5066918,essv5142943,essv5012040,essv5082924,essv5011276,essv5119645,essv5047992,essv5116541,essv5159010,essv5066541,essv5114218,essv5139754,essv5035648,essv5089352,essv5124875,essv5074687,essv5046942,essv5038443,essv5029419,essv5092301,essv5086871,essv5109611,essv5060776,essv5012059,essv5071009,essv5031304,essv5122194,essv5084722,essv5039688,essv5137319,essv5100470,essv5129145,essv5120764,essv5109932,essv5080740,essv5070620,essv5098774,essv5063741,essv5021519,essv5122699,essv5075288,essv5037909,essv5008071,essv5086781,essv5002447,essv5075305,essv5032182,essv5041327,essv5038971,essv5108511,essv5010398,essv5138031,essv5040144,essv5095268,essv5062251,essv5010129,essv5142312,essv5069349,essv5061221,essv5050519,essv5137076,essv5066371,essv5076859,essv5028025,essv5156798,essv5048124,essv5101286,essv5136243,essv5072508,essv5021218,essv5034063,essv5132803,essv5150071,essv5113398,essv5143980,essv5145462,essv5041302,essv5135313,essv5051799,essv5115345,essv5053603,essv5074254,essv5012376,essv5073498,essv5004896,essv5023640,essv5027370,essv5033202,essv5138605,essv5112834,essv5132832,essv5158670,essv5038352,essv5146617,essv5019623,essv5129097,essv5152254,essv5143372,essv5046763,essv5078788,essv5078271,essv5036622,essv5013600,essv5016727,essv5099933,essv5132503,essv5004780,essv5023530,essv5125989,essv5011172,essv5027327,essv5099433,essv5105409,essv5132675,essv5103943,essv5112539,essv5098510,essv5153275,essv5012813,essv5122111,essv5111525,essv5118352,essv5132084,essv5077259,essv5094042,essv5127489,essv5100590,essv5042740,essv5072984,essv5039226,essv5108815,essv5068033,essv5041906,essv5138739,essv5020394,essv5003453,essv5071027,essv5006567,essv5104599,essv5071909,essv5032933,essv5158679,essv5001976,essv5030821,essv5109116,essv5035098,essv5132892,essv5126786,essv5066976,essv5137209,essv5007735,essv5014831,essv5148487,essv5111537,essv5086599,essv5112137,essv5039733,essv5027382,essv5091321,essv5133151,essv5083567,essv5078558,essv5089014,essv5139422,essv5022542,essv5033600,essv5008416,essv5023340,essv5030117,essv5035625,essv5157854,essv5159337,essv5061016,essv5067413,essv5133533,essv5059062,essv5012341,essv5062443,essv5044734,essv5127587,essv5043322,essv5009418,essv5089472,essv5036092,essv5142836,essv5128322,essv5157503,essv5149872,essv5010963,essv5027141,essv5156260,essv5105005,essv5022199,essv5081631,essv5129170,essv5120227,essv5136933,essv5147315,essv5028990,essv5119306,essv5045981,essv5003714,essv5147354,essv5092497,essv5028815,essv5095203,essv5154392,essv5048308,essv5127031,essv5037344,essv5036499,essv5048419,essv5128887,essv5042429,essv5087999,essv5159691,essv5018582,essv5115955,essv5092909,essv5079682,essv5151842,essv5091810,essv5097937,essv5122830,essv5026743,essv5046629,essv5150606,essv5073420,essv5092529,essv5084655,essv5043006,essv5111910,essv5036920,essv5063056,essv5056201,essv5028614,essv5009821,essv5012022,essv5017920,essv5051523,essv5033113,essv5143219,essv5122928,essv5029636,essv5019755,essv5055534,essv5029207,essv5125185,essv5127851,essv5110768,essv5137869,essv5053811,essv5161212,essv5025361,essv5068771,essv5050689,essv5028868,essv5118020,essv5064852,essv5014966,essv5042587,essv5121815,essv5025407,essv5122352,essv5149284,essv5102496,essv5063293,essv5106418,essv5025804,essv5037192,essv5137354,essv5060029,essv5001938,essv5032144,essv5080604,essv5143397,essv5067590,essv5062932,essv5062788,essv5116088,essv5124380,essv5104592,essv5033687,essv5052565,essv5142878,essv5079121,essv5139060,essv5038041,essv5038712,essv5129944,essv5124590,essv5027729,essv5038761,essv5089605,essv5153304,essv5159775,essv5007424,essv5016485,essv5072367,essv5138346,essv5078004,essv5067207,essv5041955,essv5125695,essv5021549,essv5039003,essv5041730,essv5056459,essv5071962,essv5095545,essv5153756,essv5156672,essv5079374,essv5122799,essv5042381,essv5052629,essv5052748,essv5106636,essv5081129,essv5130937,essv5061790,essv5093733,essv5136514,essv5066868,essv5112379,essv5050158,essv5094012,essv5029554,essv5145326,essv5057282,essv5049231,essv5041128,essv5022474,essv5086729,essv5158134,essv5067101,essv5121255,essv5010787,essv5064343,essv5111222,essv5053779,essv5060399,essv5066082,essv5060633,essv5063454,essv5050799,essv5005132,essv5068629,essv5110781,essv5035033,essv5013115,essv5079615,essv5052060,essv5022428,essv5051849,essv5048128,essv5069682,essv5149840,essv5157077,essv5146787,essv5154543,essv5151694,essv5104679,essv5023416,essv5105385,essv5074397,essv5048002,essv5058532,essv5083976,essv5115108,essv5020287,essv5066700,essv5102405,essv5080259,essv5035374,essv5126409,essv5146674,essv5123120,essv5125135,essv5052587,essv5063807,essv5104635,essv5113774,essv5034794,essv5090581,essv5027189,essv5025491,essv5022455,essv5119673,essv5023759,essv5074329,essv5101915,essv5051609,essv5009123,essv5043617,essv5117651,essv5125692,essv5110425,essv5097076,essv5111227,essv5139124,essv5110648,essv5125872,essv5100106,essv5024555,essv5076412,essv5003748,essv5071572,essv5125816,essv5105114,essv5113047,essv5069679,essv5084364,essv5066926,essv5044549,essv5117705,essv5159341,essv5142096,essv5004544,essv5029000,essv5136476,essv5113035,essv5022021,essv5010181,essv5078821,essv5134700,essv5049937,essv5155789,essv5023426,essv5058314,essv5041421,essv5160791,essv5150196,essv5106427,essv5113697,essv5033897,essv5010066,essv5152906,essv5061349,essv5150367,essv5077598,essv5006349,essv5145566,essv5060496,essv5103893,essv5138794,essv5090710,essv5113365,essv5052648,essv5159181,essv5138487,essv5145729,essv5026959,essv5058732,essv5016130,essv5129177,essv5092046,essv5031206,essv5127438,essv5095067,essv5050342,essv5085213,essv5044201,essv5081144,essv5135268,essv5107092,essv5044227,essv5029576,essv5017502,essv5047675,essv5132477,essv5101031,essv5101712,essv5040276,essv5125733,essv5021642,essv5084801,essv5039645,essv5071863,essv5136764,essv5116840,essv5099004,essv5155158,essv5039932,essv5062220,essv5147714,essv5124298,essv5075507,essv5049465,essv5013816,essv5092157,essv5144284,essv5092381,essv5128179,essv5010341,essv5145599,essv5020678,essv5069063,essv5083287,essv5014190,essv5029948,essv5065393,essv5150708,essv5075228,essv5139670,essv5069311,essv5057360,essv5005120,essv5044961,essv5141810,essv5133184,essv5097450,essv5002050,essv5078739,essv5074854,essv5019046,essv5139382,essv5019452,essv5071207,essv5113062,essv5006686,essv5131517,essv5098987,essv5069787,essv5061050,essv5127532,essv5160895,essv5024464,essv5125188,essv5005409,essv5039724,essv5104231,essv5149692,essv5096303,essv5152510,essv5048954,essv5112778,essv5134303,essv5104654,essv5142887,essv5083231,essv5071930,essv5093161,essv5098320,essv5119584,essv5016318,essv5128983,essv5058586,essv5058371,essv5073885,essv5145558,essv5157612,essv5153000,essv5149608,essv5102693,essv5019430,essv5072327,essv5154875,essv5119031,essv5093318,essv5141934,essv5002828,essv5157247,essv5043965,essv5077924,essv5125697,essv5110962,essv5080628,essv5093891,essv5148097,essv5049206,essv5089676,essv5044966,essv5096941,essv5005807,essv5123877,essv5093450,essv5139520,essv5087982,essv5106565,essv5147602,essv5154828,essv5144889,essv5099501,essv5054595,essv5006050,essv5122218,essv5044029,essv5064243,essv5056535,essv5136007,essv5087225,essv5125390,essv5123830,essv5022117,essv5005448,essv5056728,essv5117672,essv5126413,essv5009633,essv5084849,essv5152749,essv5058886,essv5073325,essv5141078,essv5037975,essv5076885,essv5152529,essv5046391,essv5009720,essv5105074,essv5058903,essv5160720,essv5086350,essv5098507,essv5033359,essv5083619,essv5091833,essv5062925,essv5057683,essv5158529,essv5137658,essv5134657,essv5038963,essv5071174,essv5004596,essv5056382,essv5060537,essv5147340,essv5094485,essv5135749,essv5053737,essv5098236,essv5009218,essv5158476,essv5054965,essv5150648,essv5120797,essv5076654,essv5004633,essv5052895,essv5017210,essv5055560,essv5036684,essv5014636,essv5022609,essv5151473,essv5002916,essv5071868,essv5044309,essv5156668,essv5016531,essv5076857,essv5108868,essv5072321,essv5011636,essv5125232,essv5116425,essv5088816,essv5124223,essv5076214,essv5124580,essv5007267,essv5090670,essv5124665,essv5087935,essv5058164,essv5018475,essv5035122,essv5121205,essv5025393,essv5023430,essv5078320,essv5040272,essv5145608,essv5017882,essv5146115,essv5018549 M 1184 0 756 ANKRD36B NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11891,NA11892,NA11893,NA11894,NA11917,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12248,NA12249,NA12264,NA12272,NA12273,NA12282,NA12286,NA12287,NA12335,NA12336,NA12340,NA12342,NA12343,NA12344,NA12347,NA12348,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12708,NA12718,NA12748,NA12749,NA12750,NA12752,NA12753,NA12760,NA12761,NA12762,NA12766,NA12767,NA12775,NA12776,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17969,NA17970,NA17974,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17990,NA17993,NA17995,NA17996,NA17997,NA17999,NA18101,NA18106,NA18107,NA18109,NA18114,NA18117,NA18118,NA18120,NA18122,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18143,NA18147,NA18150,NA18151,NA18156,NA18158,NA18159,NA18160,NA18162,NA18487,NA18498,NA18503,NA18505,NA18515,NA18516,NA18517,NA18519,NA18524,NA18529,NA18534,NA18536,NA18537,NA18542,NA18544,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18610,NA18612,NA18613,NA18614,NA18616,NA18618,NA18619,NA18621,NA18622,NA18623,NA18626,NA18627,NA18628,NA18631,NA18633,NA18635,NA18636,NA18637,NA18640,NA18641,NA18642,NA18643,NA18645,NA18670,NA18682,NA18689,NA18696,NA18702,NA18704,NA18747,NA18748,NA18749,NA18757,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18872,NA18873,NA18909,NA18910,NA18911,NA18912,NA18917,NA18923,NA18924,NA18925,NA18934,NA18935,NA18939,NA18942,NA18943,NA18945,NA18946,NA18947,NA18949,NA18951,NA18952,NA18954,NA18956,NA18957,NA18960,NA18961,NA18962,NA18963,NA18966,NA18970,NA18972,NA18973,NA18976,NA18977,NA18979,NA18981,NA18987,NA18991,NA18993,NA18995,NA18998,NA19000,NA19001,NA19002,NA19010,NA19028,NA19031,NA19036,NA19038,NA19041,NA19046,NA19054,NA19058,NA19059,NA19060,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19080,NA19084,NA19086,NA19094,NA19096,NA19097,NA19101,NA19103,NA19107,NA19109,NA19113,NA19114,NA19115,NA19117,NA19118,NA19121,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19141,NA19147,NA19148,NA19150,NA19151,NA19152,NA19159,NA19160,NA19161,NA19174,NA19176,NA19189,NA19190,NA19191,NA19200,NA19202,NA19206,NA19209,NA19213,NA19223,NA19224,NA19225,NA19226,NA19238,NA19240,NA19247,NA19248,NA19249,NA19308,NA19313,NA19315,NA19316,NA19317,NA19319,NA19324,NA19332,NA19334,NA19346,NA19371,NA19372,NA19373,NA19374,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19396,NA19397,NA19398,NA19403,NA19429,NA19431,NA19435,NA19436,NA19443,NA19446,NA19448,NA19449,NA19452,NA19455,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19474,NA19625,NA19649,NA19650,NA19651,NA19653,NA19654,NA19656,NA19658,NA19661,NA19662,NA19665,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19700,NA19701,NA19704,NA19708,NA19711,NA19720,NA19722,NA19724,NA19725,NA19726,NA19727,NA19747,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19762,NA19771,NA19772,NA19773,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19784,NA19788,NA19794,NA19795,NA19818,NA19819,NA19828,NA19834,NA19836,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19982,NA20126,NA20127,NA20128,NA20276,NA20277,NA20281,NA20282,NA20287,NA20289,NA20292,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20334,NA20340,NA20341,NA20344,NA20345,NA20349,NA20350,NA20356,NA20359,NA20360,NA20363,NA20364,NA20502,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20518,NA20519,NA20520,NA20522,NA20525,NA20527,NA20528,NA20531,NA20534,NA20535,NA20538,NA20540,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20804,NA20805,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20816,NA20818,NA20819,NA20826,NA20845,NA20849,NA20850,NA20854,NA20856,NA20858,NA20861,NA20871,NA20873,NA20876,NA20881,NA20882,NA20883,NA20885,NA20888,NA20890,NA20891,NA20896,NA20899,NA20900,NA20901,NA20902,NA20907,NA20910,NA21088,NA21099,NA21100,NA21102,NA21103,NA21104,NA21105,NA21107,NA21108,NA21141,NA21142,NA21143,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21309,NA21311,NA21313,NA21316,NA21317,NA21339,NA21344,NA21352,NA21353,NA21357,NA21362,NA21364,NA21365,NA21366,NA21368,NA21370,NA21378,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21400,NA21401,NA21403,NA21404,NA21408,NA21417,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21486,NA21489,NA21490,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21519,NA21520,NA21522,NA21524,NA21525,NA21528,NA21529,NA21573,NA21574,NA21575,NA21578,NA21580,NA21582,NA21583,NA21587,NA21597,NA21599,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21619,NA21634,NA21635,NA21636,NA21648,NA21678,NA21683,NA21685,NA21686,NA21689,NA21693,NA21717,NA21718,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21776 nsv508852 2 97507374 97507374 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619911 S 4 1 0 ANKRD36B NA10860 esv32869 2 97507663 97558985 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101490 S 51 0 1 ANKRD36B 21603 nsv10100 2 97508069 97518606 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26190,nssv27518 M 31 0 2 Samples from several populations that are part of the HapMap project. ANKRD36B NA18572,NA18980 nsv10101 2 97521467 97523312 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28432,nssv29141,nssv26193,nssv28021,nssv11550,nssv26382,nssv28617,nssv28242,nssv28183,nssv29210,nssv28520,nssv27936,nssv28636,nssv28490,nssv28011,nssv28678,nssv27921,nssv27719,nssv27732,nssv27824,nssv27012,nssv27628,nssv28587,nssv28503 M 31 24 0 Samples from several populations that are part of the HapMap project. ANKRD36B NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv499474 2 97522484 97534306 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585615 S 9 1 0 ANKRD36B nsv10102 2 97530815 97533307 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28472 S 31 1 0 Samples from several populations that are part of the HapMap project. ANKRD36B NA18504 nsv2836 2 97531533 97552566 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9860,nssv10227,nssv10226 M 9 2 0 ANKRD36B NA18507,NA18956 esv998247 2 97562539 97562541 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576610 S 3 1 0 ANKRD36B HuRef nsv10103 2 97585234 97610096 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11580 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv1002081 2 97600531 97607334 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586262 S 3 0 1 "" HuRef esv24280 2 97600531 97607832 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16208,esv12143,esv9818 M 451 13 0 "" NA11894,NA12006,NA12239,NA12414,NA18505,NA18508,NA18517,NA18907,NA18909,NA19114,NA19129,NA19147,NA19190 nsv874696 2 97676314 97729339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546493 S 6533 0 1 LOC728537,ZAP70 MS17208 nsv2837 2 97677358 97711698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4441 S 9 1 0 LOC728537,ZAP70 NA12878 esv33510 2 97683535 97707734 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98777,essv97253,essv99926 M 51 3 0 LOC728537,ZAP70 21606,22075,22086 nsv10104 2 97706704 97711584 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28676 S 31 1 0 Samples from several populations that are part of the HapMap project. ZAP70 NA19132 esv4457 2 97751699 97752202 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26898 S 1 0 1 Single Asian sample YH TMEM131 YH dgv222n21 2 97770115 98192635 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521568,nsv526360 M 2026 2 0 TMEM131,VWA3B nsv819283 2 97785251 97788000 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419475 S 2 0 1 TMEM131 AK1 nsv2838 2 97861762 97895904 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7526 S 9 1 0 TMEM131 NA12156 esv272982 2 97862976 97863132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579226,essv2579814 M 7 2 0 Samples from several populations that are part of the HapMap project. TMEM131 NA19239,NA19240 esv27014 2 97911231 97914342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20031 S 451 0 3 TMEM131 NA18907,NA19108,NA19240 esv2508372 2 97938437 97939853 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295331 S 1 0 1 TMEM131 NA18507 nsv2839 2 97941232 97972419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4442 S 9 1 0 TMEM131 NA12878 esv268146 2 97948561 97948886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542595,essv2522916,essv2544024,essv2570904,essv2556763,essv2545522,essv2531940,essv2570625,essv2548614,essv2525347,essv2550362,essv2535490,essv2552170,essv2547329,essv2529161,essv2577992,essv2565266,essv2576178,essv2564001,essv2520985,essv2562770,essv2536923,essv2561595,essv2523730,essv2552859,essv2538417,essv2542684,essv2524550,essv2534525,essv2561090,essv2539613,essv2549142,essv2519563,essv2531005,essv2532650,essv2528853,essv2535671,essv2566857,essv2550888,essv2556442,essv2527991,essv2562279,essv2539470,essv2573861,essv2556061,essv2575305,essv2538471,essv2560250,essv2551442,essv2536329,essv2538013,essv2549082,essv2557833 M 157 53 0 Samples from several populations that are part of the HapMap project. TMEM131 NA06986,NA07000,NA07037,NA10851,NA11919,NA11931,NA11992,NA11993,NA11994,NA12003,NA12006,NA12044,NA12045,NA12156,NA12234,NA12249,NA12489,NA12717,NA12749,NA12761,NA12812,NA12814,NA12828,NA18498,NA18507,NA18517,NA18523,NA18537,NA18542,NA18547,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18573,NA18576,NA18579,NA18608,NA18853,NA18858,NA18871,NA18907,NA18909,NA18912,NA18951,NA18956,NA19102,NA19108,NA19190,NA19257 nsv518056 2 97953274 98522728 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695467 S 2026 1 0 CNGA3,INPP4A,TMEM131,VWA3B nsv834309 2 98009736 98160270 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442113 S 95 1 0 VWA3B nsv527817 2 98067475 98157865 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704312 S 2026 0 1 VWA3B nsv818075 2 98221929 98238471 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416323,nssv1416322 M 112 0 2 VWA3B NA18856,NA18857 nsv517669 2 98221929 98256393 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666946,nssv652771,nssv686841,nssv666827,nssv702053,nssv676112 M 2026 0 6 VWA3B nsv437289 2 98221929 98257951 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467170 S 60 0 1 Samples from several populations that are part of the HapMap project. VWA3B NA18521 esv24326 2 98222854 98252923 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19987 S 451 0 1 VWA3B NA18523 nsv10105 2 98228956 98233162 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28716 S 31 0 1 Samples from several populations that are part of the HapMap project. VWA3B NA19132 nsv438363 2 98238471 98252357 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471082,nssv471083 M 269 0 2 Samples from several populations that are part of the HapMap project. VWA3B NA18521,NA18523 esv6339 2 98293371 98293460 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28780 S 1 1 0 VWA3B SJK nsv2840 2 98483366 98528622 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7527 S 9 0 1 INPP4A NA12156 esv2585417 2 98600193 98601574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223961 S 1 0 1 UNC50 NA18507 esv988416 2 98638862 98643283 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565335 S 3 1 0 MGAT4A HuRef esv2450775 2 98643097 98643109 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323387 S 1 1 0 MGAT4A NA18507 nsv2841 2 98663306 98708794 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6861 S 9 0 1 MGAT4A NA12156 esv1002315 2 98727907 98735407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563461 S 3 0 1 "" HuRef nsv520854 2 98736189 98740152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694404 S 2026 0 1 "" nsv2842 2 98786649 98818389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2283,nssv4443 M 9 2 0 C2orf55 NA12878,NA18555 esv2277586 2 98871993 98872421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592888 S 1 0 1 C2orf55 NA18507 esv1435269 2 98883079 98883079 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626755 S 2 1 0 C2orf55 HuRef nsv874697 2 98887040 98925402 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528901 S 6533 1 0 C2orf55 SP81388 nsv834310 2 98900264 99076431 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442116,nssv1442114,nssv1442115 M 95 2 1 C2orf55,TSGA10 nsv2844 2 98960494 99005193 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5809 S 9 0 1 TSGA10 NA19129 esv993745 2 98987674 99004977 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564235 S 3 0 0 TSGA10 HuRef esv271030 2 99017620 99018036 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504007 S 157 1 0 Samples from several populations that are part of the HapMap project. TSGA10 hapmap_pooled_sample_set esv2538757 2 99103896 99104934 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339275 S 1 1 0 TSGA10 NA18507 esv2898 2 99119247 99119800 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25339 S 1 0 1 Single Asian sample YH TSGA10 YH nsv214239 2 99119397 99119732 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232817 M 24 TSGA10 esv8179 2 99119415 99119729 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30620 S 1 0 1 TSGA10 SJK dgv470n27 2 99194165 99289399 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458685,nsv458696 M 1557 2 0 LYG1,LYG2 HGDP00015,HGDP00136 nsv515702 2 99194165 99289399 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664473,nssv668274,nssv677899,nssv671985 M 2026 4 0 LYG1,LYG2 nsv874698 2 99194165 99291350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594057,nssv1599774 M 6533 2 0 LYG1,LYG2 IS39676,IS41786 esv2751904 2 99214314 99280430 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986132,essv6982287,essv6982288,essv6982289 M 771 1 0 LYG1,LYG2 BEC_411 esv2842 2 99238321 99240750 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25283 S 1 0 1 Single Asian sample YH "" YH nsv874699 2 99265430 99376476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527385 S 6533 1 0 EIF5B,LYG1,TXNDC9 SP58400 esv7975 2 99285272 99289266 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30416 S 1 0 0 "" SJK nsv524466 2 99318518 99397983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700400 S 2026 0 1 EIF5B,REV1,TXNDC9 nsv874700 2 99428595 99466421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517338 S 6533 0 1 REV1 SP57266 esv2555492 2 99469133 99471820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364635 S 1 0 1 REV1 NA18507 nsv821279 2 99469966 99471964 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420241 S 1 0 1 REV1 NA10851 nsv829580 2 99469966 99471964 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436433,nssv1424824 M 31 0 2 REV1 AK2,NA18542 esv2052109 2 99469973 99471617 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4850999 S 1 0 1 REV1 NA18507 nsv511799 2 99470035 99471496 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626450 S 1 0 1 REV1 1 esv4405 2 99470109 99471559 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26846 S 1 0 1 Single Asian sample YH REV1 YH esv27651 2 99470156 99471644 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17174 S 451 23 4 REV1 NA06985,NA07037,NA07045,NA11894,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12828,NA12878,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19190,NA19225,NA19257 dgv84e180 2 99470156 99471904 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004873,esv1005386 M 3 1 0 REV1 HuRef nsv829582 2 99470172 99471497 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440214,nssv1421543,nssv1428107,nssv1424341,nssv1438667,nssv1427351,nssv1425588,nssv1423222,nssv1440908,nssv1439537,nssv1424043,nssv1430428,nssv1422451 M 31 10 3 REV1 AK10,AK16,AK4,AK8,NA18537,NA18552,NA18564,NA18582,NA18968,NA18969,NA18973,NA18997,NA18999 esv33974 2 99470401 99471449 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101499,essv97570,essv94430,essv95721,essv95674,essv98983,essv92909,essv98559,essv99974,essv99850,essv97993,essv100408,essv96393 M 51 4 7 REV1 21603,21616,21808,21841,21938,21939,22085,22086,22259,22300,22371 esv2137645 2 99654908 99655310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955832 S 1 0 1 AFF3 NA18507 dgv1230e1 2 99747323 99913107 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23476,essv22178,essv20030,essv21804,esv178,essv15019,essv16783,essv17464 M 271 0 0 AFF3 NA07034,NA07048,NA12043,NA12044,NA12239,NA18870,NA18872 esv9519 2 99782395 99782473 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31960 S 1 1 0 AFF3 SJK nsv2845 2 99788258 99832990 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2284 S 9 0 1 AFF3 NA18555 esv270786 2 99803620 99803975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516640,essv2519313,essv2514021,essv2518762,essv2517778,essv2515843,essv2513693 M 157 7 0 Samples from several populations that are part of the HapMap project. AFF3 NA07347,NA11881,NA11894,NA12043,NA12045,NA12878,NA18969 esv272467 2 99803620 99803975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581534 S 7 1 0 Samples from several populations that are part of the HapMap project. AFF3 NA12878 nsv2846 2 99948048 99981671 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7528 S 9 1 0 AFF3 NA12156 nsv458707 2 100054210 100119922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535619 S 1557 1 0 AFF3 1780862592_A nsv2847 2 100062295 100092581 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7529 S 9 0 1 AFF3 NA12156 nsv2848 2 100080907 100111772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10228 S 9 1 0 AFF3 NA18956 nsv527481 2 100119922 100129438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703928 S 2026 0 1 AFF3 esv269854 2 100152255 100152555 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493684,essv2505246,essv2513495,essv2501434,essv2506581,essv2498706,essv2497069,essv2493871 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA18907,NA19093,NA19108,NA19138,NA19190,NA19210 nsv834311 2 100183349 100356468 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442119,nssv1442117 M 95 1 1 LONRF2 esv2053654 2 100265520 100265984 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914695 S 1 0 1 LONRF2 NA18507 nsv874701 2 100342571 100389693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548275 S 6533 1 0 CHST10 MS17785 nsv829583 2 100397464 100405182 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426479 S 31 1 0 CHST10 AK6 nsv834312 2 100410870 100604598 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442123,nssv1442120,nssv1442122,nssv1442121 M 95 0 4 NMS,PDCL3 nsv2849 2 100543606 100576721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7530 S 9 1 0 PDCL3 NA12156 nsv834314 2 100577372 100776909 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442124 S 95 1 0 "" esv267947 2 100667569 100667686 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508720,essv2500436,essv2494592,essv2507605,essv2501604,essv2512889,essv2507456,essv2503488 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18532,NA18537,NA18550,NA18576,NA18608,NA18609,NA18638,NA18947 nsv526204 2 100670590 100671759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702467 S 2026 0 1 "" nsv834315 2 100750928 100915862 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442125 S 95 1 0 NPAS2 esv25035 2 100779308 100780285 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14328 S 451 0 1 "" NA18511 nsv829584 2 100797283 100806714 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428109 S 31 1 0 NPAS2 AK10 nsv834316 2 100899480 101097933 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442126 S 95 1 0 NPAS2,RPL31,TBC1D8 esv34123 2 100991348 101374745 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C2orf29,CREG2,RNF149,RPL31,SNORD89,TBC1D8 nsv519123 2 101023158 101030016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696598 S 2026 0 1 TBC1D8 nsv834317 2 101038551 101198109 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442127 S 95 0 1 TBC1D8 nsv2850 2 101138811 101184400 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6862 S 9 0 1 "" NA12156 nsv525299 2 101155556 101168083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701405 S 2026 0 1 "" esv2423576 2 101341042 101342836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209156 S 1 0 1 CREG2 NA18507 esv2147665 2 101341439 101342164 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656741 S 1 0 1 CREG2 NA18507 nsv511800 2 101341484 101342989 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626451 S 1 0 1 CREG2 1 esv4768 2 101341588 101342163 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27209 S 1 0 1 Single Asian sample YH CREG2 YH esv8755 2 101341607 101341964 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31196 S 1 0 1 CREG2 SJK esv1298629 2 101341646 101341979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631233 S 2 0 1 CREG2 HuRef esv22386 2 101419097 101422175 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17235,esv17915 M 451 3 0 RFX8 NA11995,NA18505,NA19190 nsv524940 2 101456170 101618936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700954 S 2026 0 1 RFX8 esv2623435 2 101463660 101465250 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318502 S 1 0 1 "" NA18507 esv2341911 2 101464085 101464803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564290 S 1 0 1 "" NA18507 esv4047 2 101464197 101464681 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26488 S 1 0 1 Single Asian sample YH "" YH esv995858 2 101464271 101464597 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583754 S 3 0 1 "" HuRef esv1593324 2 101464285 101464612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086401 S 2 0 1 "" HuRef esv9253 2 101464286 101464597 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31694 S 1 0 1 "" SJK nsv874702 2 101495852 101572168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528459 S 6533 1 0 "" SP81241 nsv874703 2 101548859 101675952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564717 S 6533 0 1 "" IS30292 esv23232 2 101599029 101599823 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17300 S 451 0 2 "" NA07045,NA12749 nsv524547 2 101601040 101618936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700498 S 2026 0 1 "" nsv524825 2 101633510 101633689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700821 S 2026 0 1 "" nsv213949 2 101687485 101690106 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232527 M 24 MAP4K4 nsv834318 2 101691549 101883086 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442128 S 95 0 1 MAP4K4 esv2484314 2 101722144 101723809 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240461 S 1 0 1 MAP4K4 NA18507 esv2109649 2 101722834 101723557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941016 S 1 0 1 MAP4K4 NA18507 nsv441771 2 101763391 101766764 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MAP4K4 esv2632369 2 101768164 101769634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273813 S 1 0 1 MAP4K4 NA18507 esv2061482 2 101768361 101768894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619664 S 1 0 1 MAP4K4 NA18507 esv2829 2 101768487 101768804 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25270 S 1 0 1 Single Asian sample YH MAP4K4 YH esv1631190 2 101768569 101768713 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230646 S 2 0 1 MAP4K4 HuRef nsv213987 2 101768570 101768701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232565 M 24 MAP4K4 nsv2851 2 101771960 101796045 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10229 S 9 1 0 MAP4K4 NA18956 nsv507024 2 101915823 101921823 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620721 S 4 1 0 "" NA15510 nsv874704 2 101952323 102002331 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553866 S 6533 0 1 IL1R2 MS20359 nsv874705 2 101972958 102002331 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600165,nssv1552066 M 6533 0 2 IL1R2 IS41853,MS19159 dgv4251n71 2 101980469 102025064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874710,nsv874706,nsv874723 M 6533 0 3 IL1R2 IS33533,MS20753,SP56914 dgv4252n71 2 101981089 102002331 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874713,nsv874707,nsv874714,nsv874711,nsv874712 M 6533 0 6 IL1R2 IS35015,IS38538,MS14268,MS24624,MS25750,SP52569 dgv4253n71 2 101981089 102012823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874709,nsv874708 M 6533 0 2 IL1R2 MS15672,MS24528 nsv874715 2 101989797 101996705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505550 S 6533 0 1 IL1R2 SP53687 dgv4254n71 2 101989797 102002774 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874719,nsv874716,nsv874720 M 6533 0 11 IL1R2 IS34896,IS37743,MS15491,MS20957,MS21905,MS24868,MS25475,MS25963,MS26017,SP52060,SP54223 nsv874717 2 101991218 102015041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583546 S 6533 1 0 IL1R2 IS36527 nsv874718 2 101992312 101999779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561188 S 6533 0 1 IL1R2 MS24873 dgv4255n71 2 101992312 102012823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874722,nsv874721,nsv874730 M 6533 0 3 IL1R2 IS35788,MS12861,MS17674 dgv4256n71 2 101993952 101997535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874725,nsv874724,nsv874726 M 6533 0 5 IL1R2 SP50691,SP50870,SP51056,SP56301,SP57507 dgv4257n71 2 101996705 102002331 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874728,nsv874727 M 6533 0 4 IL1R2 IS30700,MS22224,SP51221,SP81345 nsv874729 2 101997535 102005371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592961 S 6533 0 1 IL1R2 IS39326 nsv874731 2 101999819 102002005 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518976 S 6533 0 1 IL1R2 SP80925 nsv458718 2 102044197 102057159 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535629 S 1557 0 1 "" NINDS_196 nsv2852 2 102045088 102083008 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5810 S 9 0 1 "" NA19129 nsv518990 2 102057742 102077463 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696457 S 2026 1 0 "" esv25260 2 102092441 102093119 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10651 S 451 0 1 "" NA18508 esv2483943 2 102114698 102116194 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283313 S 1 0 1 "" NA18507 nsv874732 2 102125100 102135734 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519766 S 6533 1 0 "" SP50544 nsv874733 2 102127970 102135734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574380 S 6533 0 1 "" IS33552 nsv874734 2 102127970 102157518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554737 S 6533 0 1 IL1R1 MS20957 nsv874735 2 102168051 102178148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518744 S 6533 1 0 IL1RL2 SP57973 nsv874736 2 102171650 102185169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504680 S 6533 0 1 IL1RL2 SP52708 nsv874737 2 102175115 102190226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503538 S 6533 1 0 IL1RL2 SP52077 esv2564673 2 102178470 102178519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216808 S 1 0 1 IL1RL2 NA18507 dgv4258n71 2 102180548 102201632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874738,nsv874739 M 6533 0 2 IL1RL2 SP53347,SP56007 dgv4259n71 2 102183586 102190500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874742,nsv874740,nsv874741 M 6533 0 4 IL1RL2 SP51058,SP52493,SP55195,SP80988 nsv874743 2 102184978 102202138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504704 S 6533 1 0 IL1RL2 SP52708 nsv874744 2 102185695 102198143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500933 S 6533 0 1 IL1RL2 SP51132 nsv874745 2 102189963 102195445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503512 S 6533 0 1 IL1RL2 SP52077 dgv4260n71 2 102194171 102201400 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874746,nsv874747,nsv874748,nsv874750 M 6533 0 4 IL1RL2 SP51450,SP54585,SP55694,SP56005 dgv4261n71 2 102195249 102205859 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874751,nsv874749 M 6533 2 0 IL1RL2 SP52077,SP53347 nsv874752 2 102201718 102216512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504681 S 6533 0 1 IL1RL2 SP52708 nsv874753 2 102203201 102208852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505262 S 6533 0 1 IL1RL2 SP53347 nsv2853 2 102263316 102290096 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1523 S 9 1 0 "" NA19240 esv269232 2 102278844 102278929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515313,essv2516507,essv2514361,essv2518956,essv2513853,essv2518300 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12814,NA12874,NA19141,NA19143,NA19240 esv274393 2 102278844 102278929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581099 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1258097 2 102294776 102294905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310333 S 2 0 1 IL1RL1 HuRef nsv820800 2 102333015 102333544 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420242 S 1 1 0 IL1RL1 NA10851 nsv829585 2 102333015 102333544 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439538,nssv1433508,nssv1424352,nssv1440909,nssv1434260 M 31 0 5 IL1RL1 NA18526,NA18537,NA18570,NA18968,NA18969 esv2585327 2 102333330 102336554 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370989 S 1 0 1 IL1RL1 NA18507 nsv512774 2 102335169 102336671 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625405 S 1 1 0 "" 1 esv1642451 2 102335805 102335805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690433 S 2 1 0 "" HuRef nsv2856 2 102348377 102384698 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7531 S 9 0 1 IL18R1 NA12156 nsv523406 2 102469721 102483715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699157 S 2026 0 1 SLC9A4 nsv874754 2 102482270 102505193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561162 S 6533 0 1 SLC9A4 MS24868 nsv874755 2 102487968 102517541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532827 S 6533 1 0 SLC9A4 MS10871 esv1033494 2 102614962 102614962 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881461 S 2 1 0 SLC9A2 HuRef esv2584069 2 102688504 102689976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248128 S 1 0 1 SLC9A2 NA18507 esv2417258 2 102688729 102689401 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4707860 S 1 0 1 SLC9A2 NA18507 nsv214011 2 102688916 102689250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232589 M 24 SLC9A2 esv8909 2 102688925 102689246 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31350 S 1 0 1 SLC9A2 SJK esv6999 2 102699579 102699651 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29440 S 1 1 0 "" SJK nsv834319 2 102780813 102941577 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442131,nssv1442130 M 95 2 0 TMEM182 nsv2857 2 102841074 102886102 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7532 S 9 0 1 "" NA12156 nsv528569 2 103023159 103122848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705188 S 2026 0 1 "" nsv834320 2 103036803 103253595 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442132 S 95 1 0 "" esv273740 2 103134406 103134739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578999,essv2579502 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv2858 2 103230261 103275940 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6863 S 9 0 1 "" NA12156 nsv470478 2 103277133 103415984 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547237 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00866 esv269499 2 103317077 103317193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496744,essv2496385,essv2501174,essv2509007,essv2501048,essv2493942,essv2495556,essv2506964,essv2512087,essv2501780 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18510,NA18516,NA18522,NA18856,NA18871,NA18916,NA19102,NA19238,NA19239 esv273160 2 103317093 103317208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580782,essv2579802 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1509775 2 103409674 103409674 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957087 S 2 1 0 "" HuRef esv32552 2 103602297 103603110 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98844 S 51 0 1 "" 21606 nsv2859 2 103639222 103718481 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7533,nssv4653 M 9 0 2 "" NA12156,NA19129 nsv508101 2 103683406 103689406 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624277,nssv618545,nssv622351,nssv621529 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1174589 2 103688139 103688211 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677340 S 2 0 1 "" HuRef esv26541 2 103759499 103773423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21040 S 451 0 1 "" NA19099 nsv528160 2 103762658 103788004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704709 S 2026 0 1 "" nsv522032 2 103782414 103788004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694801 S 2026 0 1 "" nsv215045 2 103849222 103855334 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233623 M 24 "" esv5166 2 103926837 103927082 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27607 S 1 0 1 Single Asian sample YH "" YH dgv1231e1 2 103960037 104126534 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv73,essv1925 M 271 0 0 "" NA18959 esv2615339 2 103996064 103998394 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224590 S 1 0 1 "" NA18507 nsv2860 2 104062023 104095788 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7534 S 9 1 0 "" NA12156 dgv223n21 2 104124175 104132783 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519678,nsv526349 M 2026 0 2 "" esv274897 2 104189146 104191926 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586174,essv2585805 M 1250 1 1 "" nsv524027 2 104329727 104337256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699890 S 2026 0 1 "" esv7492 2 104335165 104335220 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29933 S 1 1 0 "" SJK esv5826 2 104596238 104596334 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28267 S 1 1 0 "" SJK esv8972 2 104673527 104673606 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31413 S 1 1 0 "" SJK esv270145 2 104706056 104706141 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515972 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv2861 2 104756354 104789349 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1524 S 9 1 0 LOC100506421 NA19240 nsv508853 2 104774007 104815981 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619912,nssv618007,nssv621171 M 4 3 0 LOC100506421 CHM,NA10860,NA15510 nsv525049 2 104801801 104803312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701094 S 2026 0 1 LOC100506421 nsv829586 2 104806453 104866384 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438668 S 31 1 0 LOC100506421,POU3F3 NA18973 nsv829587 2 104806802 104867836 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434939 S 31 0 1 LOC100506421,POU3F3 NA18942 dgv658n67 2 104810889 104867096 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829595,nsv829593,nsv829591,nsv829590,nsv829596,nsv829588,nsv829594 M 31 7 0 LOC100506421,POU3F3 AK10,AK12,AK18,NA18542,NA18949,NA18968,NA18969 nsv874756 2 104813224 104862159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511325 S 6533 0 1 LOC100506421,POU3F3 SP55021 nsv829589 2 104814745 104851088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426480 S 31 1 0 LOC100506421,POU3F3 AK6 nsv521342 2 104818758 104821022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697951 S 2026 0 1 LOC100506421 nsv874757 2 104821735 104852557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508039 S 6533 0 1 LOC100506421,POU3F3 SP54725 nsv829597 2 104837335 104841303 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432672 S 31 1 0 POU3F3 NA18972 esv23703 2 104912176 104916334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14312 S 451 0 1 "" NA12006 nsv2862 2 104928434 104963378 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1525 S 9 1 0 "" NA19240 nsv511074 2 104980846 105010598 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622439 S 4 0 0 "" NA10860 esv995428 2 104994086 104999133 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563840 S 3 1 0 "" HuRef nsv507025 2 104997220 105003220 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620722 S 4 1 0 "" NA15510 nsv512775 2 104998571 104999463 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625406 S 1 1 0 "" 1 nsv820123 2 105020335 105022186 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419341 S 2 1 0 MRPS9 AK1 dgv85e180 2 105028418 105032014 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009207,esv1000525 M 3 0 1 MRPS9 HuRef dgv86e180 2 105028428 105032957 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996230,esv1002865 M 3 0 1 MRPS9 HuRef esv27425 2 105028475 105031989 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13033 S 451 0 1 MRPS9 NA12044 esv993985 2 105187222 105198416 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563522 S 3 0 1 "" HuRef nsv511801 2 105192287 105196526 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626452 S 1 0 1 "" 1 nsv498930 2 105192323 105194875 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585791 S 9 0 1 "" nsv874758 2 105429704 105527571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596951 S 6533 1 0 "" IS40678 esv1192405 2 105468001 105468001 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041662 S 2 1 0 "" HuRef esv1111556 2 105472145 105472209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307652 S 2 0 1 "" HuRef esv275298 2 105508782 105518672 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585350 S 1250 0 1 "" nsv874759 2 105515702 105538433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536725 S 6533 0 1 "" MS12938 esv272978 2 105529556 105530093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580598 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268280 2 105529564 105530069 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510092,essv2500852,essv2502302,essv2502758,essv2494992,essv2500000,essv2494431,essv2501611,essv2497864,essv2502605,essv2497046,essv2503677,essv2503903,essv2513026 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA10847,NA11829,NA11830,NA12004,NA12892,NA18520,NA18558,NA18572,NA18608,NA18945,NA18965,NA19190 nsv874760 2 105554591 105600535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596952 S 6533 1 0 LOC285000 IS40678 nsv516491 2 105576782 105577020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657614,nssv668674 M 2026 0 2 LOC285000 esv271733 2 105583064 105589146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512570,essv2496714,essv2510632,essv2494664,essv2509032,essv2500910,essv2507036 M 157 7 0 Samples from several populations that are part of the HapMap project. LOC285000 NA18489,NA18498,NA18501,NA18519,NA18522,NA18856,NA18870 nsv523730 2 105627736 105629151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699546 S 2026 0 1 "" nsv2863 2 105633504 105666299 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1526 S 9 1 0 "" NA19240 nsv834321 2 105646125 105823941 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442133,nssv1442134 M 95 0 2 NCK2 esv34022 2 105647879 105655916 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv2864 2 105695887 105711480 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7535 S 9 0 1 "" NA12156 nsv10107 2 105713607 105719991 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28233 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv21951 2 105714269 105719711 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19247 S 451 0 1 "" NA12044 nsv441772 2 105714544 105717641 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514973 2 105716952 105717616 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628475 S 1414 0 0 "" esv994957 2 105750422 105766008 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565017 S 3 0 0 NCK2 HuRef esv22511 2 105750939 105751408 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16817 S 451 2 0 NCK2 NA19129,NA19240 nsv10108 2 105754515 105758394 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27919 S 31 0 1 Samples from several populations that are part of the HapMap project. NCK2 NA11830 esv24019 2 105805279 105807106 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15003 S 451 0 1 NCK2 NA18505 esv2478624 2 105818508 105819516 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260641 S 1 1 0 NCK2 NA18507 esv273223 2 105818981 105819193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583082,essv2584185,essv2584762,essv2583318 M 7 4 0 Samples from several populations that are part of the HapMap project. NCK2 NA12892,NA19238,NA19239,NA19240 esv270355 2 105818981 105819200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557810,essv2565897,essv2576012,essv2542317,essv2522784,essv2568198,essv2545526,essv2577445,essv2547499,essv2529083,essv2546833,essv2540007,essv2557382,essv2557222,essv2552709,essv2551867,essv2532407,essv2569277,essv2578557,essv2536927,essv2539138,essv2569691,essv2527206,essv2561440,essv2562936,essv2523697,essv2538188,essv2542957,essv2561005,essv2549434,essv2559874,essv2531140,essv2567770,essv2553286,essv2572562,essv2541918,essv2551104,essv2543746,essv2556229,essv2527923,essv2562203,essv2534120,essv2578305,essv2573228,essv2533772,essv2555557,essv2529681,essv2575372,essv2538514,essv2526460,essv2523972,essv2530397,essv2545036,essv2549952,essv2571317,essv2545916,essv2574358,essv2551453,essv2537952 M 157 59 0 Samples from several populations that are part of the HapMap project. NCK2 NA07000,NA10851,NA11829,NA11830,NA11919,NA11931,NA11995,NA12003,NA12043,NA12717,NA12749,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18547,NA18550,NA18562,NA18564,NA18570,NA18573,NA18577,NA18605,NA18609,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18945,NA19093,NA19099,NA19108,NA19114,NA19129,NA19141,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv26794 2 105875421 105913117 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13872 S 451 1 0 NCK2 NA19147 esv271512 2 105952020 105952358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516962,essv2515284,essv2519414 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA12249 esv1277335 2 105997320 105997320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143999 S 2 1 0 "" HuRef esv267903 2 106026943 106027028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519111 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv511802 2 106061425 106062425 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626453 S 1 0 1 "" 1 nsv820626 2 106061461 106062058 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420243 S 1 0 1 "" NA10851 esv29685 2 106061461 106062729 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18230,esv21056 M 451 6 5 "" NA06985,NA07045,NA11993,NA11995,NA12489,NA12828,NA18508,NA19099,NA19114,NA19129,NA19147 nsv829598 2 106061495 106062037 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424374,nssv1437962,nssv1425589,nssv1430429,nssv1423223,nssv1422453 M 31 6 0 "" AK16,AK4,NA18552,NA18592,NA18968,NA18999 nsv829599 2 106061495 106065141 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427353 S 31 1 0 "" AK8 esv1002947 2 106061501 106062326 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586231 S 3 1 0 "" HuRef nsv829600 2 106061501 106062729 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438024,nssv1429648,nssv1431905,nssv1428111,nssv1433509,nssv1426481,nssv1432673,nssv1436435,nssv1431164,nssv1434940,nssv1424781,nssv1439539,nssv1428903,nssv1434261,nssv1438430,nssv1424825,nssv1440911,nssv1424044 M 31 0 18 "" AK10,AK12,AK14,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18570,NA18582,NA18942,NA18947,NA18951,NA18969,NA18972 esv8468 2 106061511 106062324 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30909 S 1 0 1 "" SJK nsv213311 2 106061511 106062327 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231889 M 24 "" esv992738 2 106061543 106062037 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587065 S 3 1 0 "" HuRef nsv829601 2 106061543 106062037 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421544 S 31 0 1 "" NA18997 nsv524810 2 106092360 106096424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700803 S 2026 0 1 UXS1 nsv834322 2 106191542 106394734 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442135 S 95 1 0 PLGLA,RGPD3 nsv508156 2 106207296 106286388 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620187 S 4 0 1 "" NA15510 nsv223 2 106217623 106264339 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv223 S 1 0 1 "" NA15510 nsv2865 2 106237600 106272262 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1528,nssv2285 M 9 0 2 "" NA18555,NA19240 esv2421882 2 106245033 106251789 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083669,essv5133893,essv5123770,essv5112363,essv5050922,essv5147105,essv5150764,essv5055020,essv5030727,essv5035432,essv5122955,essv5106547,essv5093930,essv5063093,essv5023104,essv5135019,essv5142985,essv5151320,essv5081565,essv5056618,essv5144725,essv5016895,essv5072793,essv5058179,essv5077039,essv5032255,essv5016693,essv5056333,essv5108123,essv5004549,essv5007314,essv5145280,essv5109755,essv5140462,essv5117205,essv5011395,essv5057462,essv5029200,essv5003157,essv5100253,essv5080395,essv5073453,essv5125743,essv5102472,essv5090435,essv5031005,essv5060711,essv5159204,essv5071592,essv5067355,essv5161027,essv5107709,essv5071487,essv5081816,essv5155182,essv5074220,essv5115857,essv5004694,essv5057372,essv5157360,essv5099347,essv5156466,essv5101098,essv5147957,essv5103191,essv5149400,essv5077587,essv5051549,essv5012757,essv5066696,essv5122158,essv5071657,essv5101072,essv5084172,essv5022348,essv5005470,essv5080037,essv5145345,essv5119846,essv5142425,essv5146987,essv5093658,essv5011408,essv5037079,essv5110289,essv5079832,essv5017664,essv5007601,essv5089035,essv5054640,essv5137108,essv5135369,essv5143482,essv5011089,essv5031887,essv5130072,essv5070321,essv5074789,essv5035320,essv5062980,essv5050745,essv5111578,essv5002383,essv5009644,essv5092965,essv5131034,essv5147190,essv5085198,essv5151367,essv5039124,essv5060126,essv5121803,essv5010143,essv5125001,essv5035695,essv5134111,essv5137714,essv5021042,essv5051460,essv5131295,essv5071096,essv5071624,essv5030472,essv5098755,essv5081885,essv5010587,essv5002377,essv5152832,essv5025750,essv5072856,essv5022871,essv5070250,essv5140114,essv5075273,essv5045094,essv5125796,essv5085802,essv5143275,essv5011814,essv5137401,essv5050456,essv5109292,essv5046470,essv5130631,essv5143421,essv5042446,essv5044405,essv5070006,essv5070347,essv5127110,essv5073461,essv5004239,essv5013041,essv5026087,essv5130897,essv5100427,essv5084803,essv5084888,essv5093955,essv5144580,essv5083706,essv5001958,essv5068294,essv5109435,essv5102403,essv5066139,essv5107883,essv5073974,essv5020658,essv5034612,essv5092079,essv5029097,essv5049777,essv5016921,essv5077091,essv5004547,essv5153764,essv5062755,essv5027281,essv5153447,essv5103152,essv5044871,essv5101231,essv5158362,essv5012888,essv5027155,essv5150183,essv5061539,essv5100042,essv5077033,essv5063649,essv5072540,essv5017338,essv5034241,essv5141499,essv5036157,essv5142698,essv5119622,essv5121687,essv5125469,essv5087094,essv5025314,essv5011016,essv5101581,essv5008882,essv5095101,essv5031456,essv5027763,essv5127170,essv5074486,essv5100818,essv5044135,essv5108253,essv5131747,essv5020815,essv5091033,essv5137981,essv5043498,essv5130691,essv5059258,essv5023106,essv5138721,essv5081292,essv5068907,essv5082256,essv5073988,essv5153722,essv5139447,essv5149134,essv5046755,essv5057852,essv5099566,essv5067499,essv5049098,essv5099261,essv5055351,essv5027330,essv5129388,essv5018885,essv5006229,essv5056779,essv5010858,essv5127165,essv5075095,essv5142032,essv5029151,essv5153072,essv5093639,essv5142402,essv5098255,essv5072855,essv5106819,essv5036759,essv5139948,essv5072895,essv5019877,essv5056800,essv5021068,essv5041658,essv5062030,essv5059370,essv5126478,essv5053375,essv5032248,essv5036583,essv5096132,essv5074672,essv5076020,essv5067857,essv5014888,essv5023614,essv5042277,essv5005388,essv5135376,essv5145624,essv5102324,essv5035848,essv5054742,essv5056049,essv5063523,essv5118144,essv5108248,essv5122302,essv5005672,essv5102204,essv5069174,essv5144776,essv5033043,essv5150180,essv5012479,essv5007438,essv5079958,essv5057245,essv5145812,essv5043906,essv5060613,essv5054438,essv5128618,essv5134590,essv5108157,essv5029342,essv5142524,essv5078866,essv5108279,essv5004855,essv5037014,essv5084853,essv5021564,essv5084340,essv5069078,essv5091354,essv5144522,essv5028348,essv5109625,essv5090354,essv5084272,essv5017099,essv5138897,essv5056946,essv5146082,essv5080744,essv5066619,essv5115051,essv5110013,essv5089246,essv5007495,essv5051226,essv5125411,essv5011012,essv5078059,essv5136565,essv5041723,essv5126114,essv5090508,essv5067565,essv5096731,essv5093636,essv5043680,essv5035096,essv5053419,essv5109700,essv5124514,essv5027128,essv5114455,essv5046495,essv5021863,essv5053945,essv5067435,essv5048444,essv5030719,essv5043935,essv5006929,essv5069043,essv5029291,essv5016461,essv5128405,essv5113703,essv5119700,essv5003890,essv5154262,essv5149095,essv5120892,essv5105155,essv5015716,essv5105511,essv5107531,essv5118483,essv5113234,essv5078773,essv5098149,essv5137187,essv5092166,essv5096839,essv5073240,essv5012183,essv5021109,essv5108874,essv5130313,essv5020486,essv5105496,essv5069976,essv5085181,essv5062401,essv5053277,essv5146996,essv5045291,essv5029967,essv5139637,essv5107592,essv5043232,essv5114842,essv5152063,essv5085859,essv5126523,essv5152845,essv5106607,essv5148746,essv5072940,essv5116987,essv5016218,essv5023177,essv5048350,essv5081265,essv5022011,essv5050429,essv5120927,essv5010929,essv5016178,essv5099903,essv5119352,essv5140690,essv5084469,essv5116432,essv5145617,essv5013527,essv5032539,essv5104476,essv5105473,essv5055805,essv5006718,essv5070704,essv5035996,essv5028830,essv5042677,essv5078987,essv5151878,essv5054881,essv5124611,essv5013256,essv5004160,essv5092504,essv5141200,essv5158003,essv5138793,essv5112726,essv5085913,essv5113258,essv5143507,essv5059050,essv5085895,essv5066732,essv5054645,essv5144023,essv5079000,essv5138563,essv5129949,essv5015985,essv5098677,essv5040210,essv5028378,essv5160843,essv5017122,essv5005660,essv5114957,essv5025900,essv5091456,essv5091669,essv5044584,essv5069883,essv5104783,essv5096833,essv5084263,essv5078743,essv5090820,essv5153606,essv5160428,essv5062775,essv5056684,essv5058039,essv5147446,essv5094461,essv5097699,essv5141980,essv5089544,essv5089520,essv5111580,essv5126851,essv5053974,essv5052639,essv5105179,essv5155346,essv5112420,essv5119792,essv5077897,essv5140786,essv5043038,essv5131226,essv5114501,essv5076344,essv5034965,essv5078043,essv5027176,essv5051300,essv5128328,essv5081372,essv5063417,essv5106660,essv5009900,essv5012434,essv5114297,essv5010852,essv5021542,essv5012508,essv5025500,essv5072571,essv5079589,essv5159696,essv5094750,essv5130583,essv5131878,essv5081527,essv5106614,essv5156953,essv5099996,essv5040042,essv5021502,essv5143908,essv5048712,essv5069698,essv5059662,essv5028484,essv5045279,essv5016079,essv5052425,essv5071234,essv5092489,essv5059249,essv5153503,essv5157263,essv5079079,essv5142348,essv5004846,essv5145899,essv5028870,essv5002048,essv5134941,essv5121585,essv5020211,essv5087592,essv5035718,essv5071871,essv5020593,essv5113634,essv5005490,essv5087491,essv5106582,essv5101849,essv5048174,essv5093646,essv5050579,essv5140412,essv5012827,essv5038386,essv5155716,essv5072319,essv5137893,essv5065559,essv5134655,essv5007866,essv5135498,essv5120921,essv5123951,essv5047426,essv5043594,essv5032299,essv5153342,essv5146406,essv5042470,essv5122045,essv5065221,essv5063683,essv5017027,essv5039653,essv5141510,essv5048779,essv5099157,essv5148805,essv5126919,essv5131693,essv5104827,essv5112422,essv5071904,essv5012260,essv5022843,essv5055131,essv5044674,essv5008226,essv5049616,essv5148389,essv5098920,essv5004141,essv5105474,essv5007992,essv5156035,essv5137409,essv5085574,essv5135216,essv5108105,essv5008313,essv5142010,essv5063133,essv5010390,essv5071628,essv5088978,essv5017684,essv5087507,essv5089616,essv5073736,essv5047207,essv5160881,essv5089522,essv5063766,essv5090202,essv5068599,essv5088654,essv5112497,essv5009181,essv5160410,essv5149662,essv5046742,essv5037752,essv5082610,essv5009238,essv5033203,essv5136129,essv5015719,essv5018793,essv5137392,essv5030228,essv5010005,essv5110628,essv5152572,essv5154397,essv5094229,essv5083840 M 1184 0 635 "" NA06984,NA06985,NA06989,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07056,NA07346,NA07347,NA07349,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10840,NA10846,NA10847,NA10854,NA10856,NA10859,NA10863,NA11829,NA11831,NA11839,NA11881,NA11891,NA11893,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11993,NA12003,NA12043,NA12044,NA12057,NA12145,NA12154,NA12155,NA12156,NA12234,NA12239,NA12264,NA12273,NA12283,NA12335,NA12341,NA12347,NA12348,NA12386,NA12399,NA12400,NA12413,NA12546,NA12707,NA12716,NA12718,NA12739,NA12748,NA12749,NA12752,NA12753,NA12760,NA12763,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12813,NA12815,NA12817,NA12818,NA12828,NA12829,NA12830,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA12891,NA17962,NA17965,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17980,NA17981,NA17986,NA17987,NA17990,NA17993,NA17996,NA17997,NA17999,NA18101,NA18102,NA18105,NA18107,NA18109,NA18114,NA18122,NA18124,NA18125,NA18131,NA18133,NA18134,NA18136,NA18140,NA18148,NA18149,NA18151,NA18152,NA18158,NA18161,NA18484,NA18485,NA18486,NA18487,NA18488,NA18497,NA18498,NA18500,NA18501,NA18504,NA18506,NA18508,NA18509,NA18510,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18536,NA18542,NA18544,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18594,NA18597,NA18599,NA18603,NA18605,NA18609,NA18611,NA18612,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18627,NA18630,NA18635,NA18637,NA18638,NA18640,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18689,NA18694,NA18696,NA18704,NA18749,NA18757,NA18852,NA18861,NA18862,NA18863,NA18870,NA18871,NA18873,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18924,NA18930,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18949,NA18951,NA18952,NA18953,NA18957,NA18960,NA18961,NA18962,NA18964,NA18965,NA18966,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18976,NA18977,NA18978,NA18979,NA18981,NA18987,NA18991,NA18994,NA18995,NA18998,NA18999,NA19000,NA19002,NA19007,NA19009,NA19010,NA19027,NA19031,NA19036,NA19041,NA19054,NA19055,NA19056,NA19057,NA19059,NA19062,NA19068,NA19070,NA19072,NA19076,NA19077,NA19079,NA19081,NA19083,NA19084,NA19086,NA19087,NA19088,NA19093,NA19096,NA19097,NA19098,NA19101,NA19102,NA19108,NA19109,NA19116,NA19117,NA19118,NA19120,NA19122,NA19127,NA19130,NA19132,NA19137,NA19141,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19159,NA19160,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19198,NA19203,NA19209,NA19214,NA19226,NA19238,NA19239,NA19240,NA19309,NA19310,NA19311,NA19313,NA19315,NA19319,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19350,NA19352,NA19359,NA19360,NA19371,NA19373,NA19374,NA19376,NA19377,NA19380,NA19381,NA19382,NA19385,NA19393,NA19397,NA19398,NA19428,NA19429,NA19430,NA19434,NA19437,NA19443,NA19444,NA19446,NA19448,NA19449,NA19451,NA19455,NA19456,NA19457,NA19467,NA19469,NA19470,NA19472,NA19473,NA19474,NA19625,NA19651,NA19654,NA19656,NA19657,NA19658,NA19659,NA19661,NA19662,NA19663,NA19664,NA19665,NA19681,NA19684,NA19704,NA19705,NA19718,NA19719,NA19720,NA19722,NA19723,NA19724,NA19746,NA19747,NA19748,NA19750,NA19755,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19828,NA19834,NA19835,NA19836,NA19904,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19985,NA20129,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20317,NA20319,NA20322,NA20333,NA20335,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20505,NA20506,NA20508,NA20510,NA20515,NA20517,NA20518,NA20520,NA20521,NA20528,NA20530,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20543,NA20581,NA20582,NA20588,NA20589,NA20753,NA20755,NA20757,NA20759,NA20761,NA20765,NA20769,NA20770,NA20771,NA20772,NA20773,NA20775,NA20783,NA20786,NA20787,NA20790,NA20797,NA20801,NA20805,NA20808,NA20809,NA20811,NA20812,NA20813,NA20816,NA20818,NA20846,NA20849,NA20852,NA20853,NA20854,NA20856,NA20858,NA20861,NA20871,NA20873,NA20874,NA20877,NA20879,NA20881,NA20883,NA20884,NA20887,NA20894,NA20897,NA20901,NA20902,NA20903,NA20904,NA20906,NA20908,NA20909,NA20910,NA21086,NA21088,NA21091,NA21092,NA21099,NA21103,NA21104,NA21105,NA21107,NA21109,NA21113,NA21115,NA21117,NA21118,NA21119,NA21125,NA21142,NA21144,NA21300,NA21302,NA21303,NA21336,NA21339,NA21352,NA21355,NA21357,NA21359,NA21367,NA21368,NA21381,NA21382,NA21408,NA21414,NA21417,NA21418,NA21424,NA21435,NA21436,NA21441,NA21442,NA21451,NA21453,NA21455,NA21473,NA21476,NA21477,NA21479,NA21491,NA21493,NA21494,NA21510,NA21522,NA21527,NA21528,NA21573,NA21574,NA21575,NA21577,NA21580,NA21582,NA21583,NA21587,NA21596,NA21616,NA21620,NA21647,NA21648,NA21682,NA21716,NA21718,NA21719,NA21733,NA21741,NA21768 nsv874761 2 106245033 106341051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550233 S 6533 1 0 "" MS18375 nsv10109 2 106245158 106252992 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29240,nssv28512,nssv27736,nssv26555,nssv26399,nssv28657,nssv26175,nssv28627,nssv28106,nssv28302,nssv28756,nssv27142,nssv28573,nssv27819,nssv28292,nssv28530,nssv27723,nssv28096 M 31 0 18 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18552,NA18564,NA18572,NA18942,NA18972,NA19007,NA19132,NA19144,NA19240 dgv659n67 2 106245694 106252210 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829606,nsv829604,nsv829605,nsv829602 M 31 0 21 "" AK12,AK14,AK16,AK2,AK4,AK6,AK8,NA18526,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18968,NA18973,NA18999 nsv820207 2 106245723 106252240 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419778 S 2 0 1 "" AK1 nsv511803 2 106245753 106253235 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626455 S 1 0 1 "" 1 esv27445 2 106246513 106252930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15736 S 451 0 22 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12044,NA12156,NA12239,NA12414,NA12749,NA12828,NA15510,NA18502,NA18508,NA18523,NA18861,NA18909,NA18916,NA19108,NA19147,NA19190,NA19240 nsv514084 2 106246952 106252000 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627020 S 1414 0 0 "" nsv442812 2 106247145 106251789 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2108557 2 106296852 106297231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583012 S 1 0 1 "" NA18507 esv989267 2 106296960 106297061 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585577 S 3 0 1 "" HuRef esv2148219 2 106304713 106305399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595415 S 1 0 1 "" NA18507 nsv2867 2 106306479 106308909 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3025 S 9 1 0 "" NA18555 nsv213434 2 106307605 106310708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232012 M 24 "" esv29426 2 106436983 106451354 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14636,esv10218 M 451 3 7 RGPD3 NA07045,NA11993,NA12156,NA12239,NA12489,NA12749,NA12776,NA15510,NA19108,NA19190 esv1179092 2 106450324 106450324 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869520 S 2 1 0 RGPD3 HuRef esv23117 2 106451384 106498087 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14031 S 451 1 0 "" NA12287 nsv2868 2 106520399 106535612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4444 S 9 1 0 "" NA12878 nsv522223 2 106521108 106540865 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695000 S 2026 0 1 "" esv24573 2 106553291 106555470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14166 S 451 0 1 "" NA19108 nsv471617 2 106562494 107457593 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549877,nssv550112,nssv549472,nssv549876 M 48 2 0 ST6GAL2 NA17017,NA17052 nsv874762 2 106570542 107150778 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525427 S 6533 1 0 ST6GAL2 SP56580 nsv874763 2 106608161 106631490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513035 S 6533 0 1 "" SP55671 nsv521705 2 106627732 106676748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698328 S 2026 0 1 "" esv1000278 2 106640548 106641550 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564715 S 3 1 0 "" HuRef nsv874764 2 106927453 106996424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535761 S 6533 0 1 "" MS12466 nsv2869 2 106939934 106984647 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7536 S 9 0 1 "" NA12156 dgv1232e1 2 106964472 107128063 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5419,esv395 M 271 0 0 "" NA18563 esv1628028 2 107054174 107054174 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252977 S 2 1 0 "" HuRef nsv2870 2 107124166 107168837 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7537 S 9 0 1 "" NA12156 nsv528330 2 107156518 107160678 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704912 S 2026 1 0 "" nsv874765 2 107156923 107262783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525428 S 6533 1 0 "" SP56580 nsv507026 2 107254194 107260194 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623344 S 4 1 0 "" NA18994 esv23336 2 107265636 107270226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14247 S 451 0 2 "" NA18517,NA19147 esv270046 2 107291004 107291127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511426,essv2495283,essv2505495,essv2493239,essv2494998,essv2509225,essv2503627 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11920,NA11992,NA12154,NA18504,NA18520,NA18909 nsv213203 2 107292829 107293169 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231781 M 24 "" dgv4262n71 2 107309803 107794391 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874766,nsv874767 M 6533 2 0 "" SP56580,SP81107 nsv10110 2 107382247 107385812 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27836,nssv28342,nssv28347,nssv28146,nssv28582,nssv28019 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18552,NA18563,NA18572,NA18975 esv4173 2 107383012 107385838 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26614 S 1 0 1 Single Asian sample YH "" YH nsv436302 2 107383121 107385739 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465934 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv27360 2 107383126 107385883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20650 S 451 0 3 "" NA06985,NA18502,NA18505 dgv660n67 2 107384307 107385753 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829608,nsv829607 M 31 0 5 "" AK4,NA18526,NA18552,NA18566,NA18582 nsv213342 2 107521308 107522435 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231920 M 24 "" esv27839 2 107549712 107551134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15429 S 451 0 1 "" NA18517 esv2552565 2 107639888 107646771 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267762 S 1 0 1 "" NA18507 esv2632677 2 107641075 107646044 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212607 S 1 0 1 "" NA18507 esv2354790 2 107641549 107645738 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862880 S 1 0 1 "" NA18507 nsv829609 2 107641718 107642818 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433512,nssv1438185,nssv1429650,nssv1440912,nssv1428905,nssv1424827 M 31 0 6 "" AK12,AK14,AK2,NA18526,NA18592,NA18969 esv29787 2 107641730 107644766 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12086 S 451 0 12 "" NA06985,NA11995,NA12044,NA12239,NA12749,NA18508,NA18523,NA18861,NA19099,NA19190,NA19225,NA19240 dgv61n68 2 107678140 107903543 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834325,nsv834323 M 95 2 0 LOC729121,RGPD4 nsv829610 2 107779558 107809997 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438670 S 31 1 0 LOC729121,RGPD4 NA18973 esv5802 2 107780988 107786601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28243 S 1 0 1 "" SJK nsv829611 2 107796203 107809997 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436437,nssv1424396 M 31 2 0 LOC729121,RGPD4 NA18542,NA18968 esv2475213 2 107807195 107903751 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325368 S 1 0 1 LOC729121,RGPD4 NA18507 esv27269 2 107809816 107812881 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19809 S 451 2 13 RGPD4 NA07045,NA11993,NA11995,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18916,NA19129,NA19190,NA19257 esv995182 2 107810111 107813393 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586649 S 3 0 1 RGPD4 HuRef esv1536919 2 107810312 107811812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186473 S 2 0 1 RGPD4 HuRef esv1116837 2 107811836 107811836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930338 S 2 1 0 RGPD4 HuRef dgv1233e1 2 107816309 108345086 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15004,essv16770 M 271 0 0 RGPD4,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3 NA18870,NA18872 dgv1234e1 2 107816309 108589769 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv771,essv14810,essv13411 M 271 0 0 GCC2,LIMS1,RGPD4,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 NA18870,NA18872 nsv874768 2 107904055 108022783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525430 S 6533 1 0 SLC5A7 SP56580 nsv874769 2 107904055 108329924 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590181 S 6533 1 0 SLC5A7,SULT1C2,SULT1C2P1,SULT1C3 IS38465 nsv874770 2 107904055 108476458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566880 S 6533 0 1 GCC2,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 IS30969 nsv527686 2 107907419 108474892 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704162 S 2026 1 0 GCC2,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 dgv153e55 2 107907419 108560498 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34518,esv34618 M 771 2 0 GCC2,LIMS1,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 NA18870,NA18872 nsv527491 2 107907419 108633306 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703939 S 2026 0 1 GCC2,LIMS1,SLC5A7,SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 nsv438364 2 107910514 107922950 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471084 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 esv271204 2 107925467 107925642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495390,essv2495868,essv2505789,essv2504937,essv2493122 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12489,NA18861,NA18942,NA18951 nsv469771 2 107940895 108094735 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649792 M 265 0 2 Samples from several populations that are part of the HapMap project. SLC5A7 nsv438365 2 107954142 107973532 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471085 S 269 0 1 Samples from several populations that are part of the HapMap project. SLC5A7 NA18872 nsv834326 2 107976153 108116200 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442138 S 95 1 0 SLC5A7 nsv874771 2 108041125 108277183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525431 S 6533 1 0 SULT1C2,SULT1C3 SP56580 esv2551252 2 108124784 108126293 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370069 S 1 0 1 "" NA18507 esv33704 2 108147103 108153027 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98859 S 51 0 1 "" 21606 esv2493884 2 108163631 108164518 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363906 S 1 1 0 "" NA18507 nsv215287 2 108164102 108164102 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233865 M 24 "" esv1734174 2 108164162 108164162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903661 S 2 1 0 "" HuRef nsv834327 2 108196836 108405762 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442139 S 95 1 0 SULT1C2,SULT1C2P1,SULT1C3,SULT1C4 nsv10111 2 108220465 108222985 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28004,nssv28396,nssv27272,nssv28104,nssv28667,nssv11483,nssv28613,nssv28352,nssv28156,nssv28283,nssv26714,nssv29171,nssv26863,nssv26396,nssv28002,nssv28600,nssv28590,nssv28697 M 31 17 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12872,NA18517,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19240 nsv829612 2 108221643 108222642 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426487 S 31 1 0 "" AK6 nsv821125 2 108221643 108222848 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420244 S 1 0 1 "" NA10851 nsv829613 2 108221684 108222848 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436438,nssv1422456 M 31 0 2 "" NA18542,NA18552 nsv829615 2 108221742 108222642 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428112,nssv1434943,nssv1427355,nssv1438441 M 31 3 1 "" AK10,AK8,NA18547,NA18942 esv27595 2 108221762 108222763 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20637 S 451 14 5 "" NA06985,NA11894,NA11931,NA12156,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA19114,NA19147,NA19240 nsv511804 2 108221802 108223653 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626456 S 1 0 1 "" 1 nsv10112 2 108280894 108283979 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28737 S 31 1 0 Samples from several populations that are part of the HapMap project. SULT1C2 NA12155 nsv469774 2 108299623 108444126 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649795 M 265 0 0 Samples from several populations that are part of the HapMap project. GCC2,SULT1C2P1,SULT1C4 nsv528319 2 108306502 108306768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704900 S 2026 0 1 SULT1C2P1 nsv213897 2 108316225 108317008 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232475 M 24 SULT1C2P1 nsv874772 2 108337783 108432856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590182 S 6533 1 0 GCC2,SULT1C4 IS38465 esv2236049 2 108360722 108361270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547558 S 1 0 1 SULT1C4 NA18507 nsv2871 2 108403025 108434466 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7538 S 9 0 1 GCC2 NA12156 nsv834328 2 108405763 108596754 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442141 S 95 1 0 GCC2,LIMS1 esv989899 2 108444487 108453100 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565185 S 3 0 1 GCC2 HuRef nsv819058 2 108470940 108473220 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419413 S 2 0 1 GCC2 AK1 nsv10113 2 108484291 108492887 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26569 S 31 0 1 Samples from several populations that are part of the HapMap project. GCC2 NA18980 esv267770 2 108508475 108508560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516935 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv521122 2 108559939 108567088 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688603,nssv682601 M 2026 0 2 LIMS1 esv23794 2 108674430 108678542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16750,esv11286 M 451 0 6 "" NA07045,NA11993,NA11995,NA12489,NA18909,NA19147 esv1476912 2 108676986 108678542 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023302 S 2 0 1 "" HuRef esv993250 2 108677086 108678542 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586107 S 3 0 1 "" HuRef nsv2872 2 108786799 108821286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4445 S 9 1 0 CCDC138 NA12878 nsv874773 2 108873505 109165158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545427 S 6533 1 0 EDAR,LOC100287216,MIR4265,SH3RF3 MS16792 nsv508854 2 108886015 108946983 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619913 S 4 1 0 EDAR NA10860 esv2132532 2 108907818 108908224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522014 S 1 0 1 EDAR NA18507 nsv516437 2 108946170 108955517 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676446,nssv685943,nssv655169,nssv668353,nssv680648,nssv700681,nssv677557,nssv679827,nssv693994 M 2026 0 9 EDAR nsv874774 2 109002337 109136411 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525432 S 6533 1 0 LOC100287216,MIR4265,SH3RF3 SP56580 nsv874775 2 109015405 109063945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563167,nssv1540074,nssv1542094,nssv1556769,nssv1540767,nssv1556971,nssv1541994,nssv1549440,nssv1560434,nssv1532287,nssv1558620,nssv1562129,nssv1536449,nssv1559334,nssv1550369,nssv1536332,nssv1520229,nssv1539650,nssv1554970,nssv1557122,nssv1544532,nssv1541766,nssv1562045,nssv1536638,nssv1563413,nssv1540981,nssv1560277 M 6533 0 27 "" MS10739,MS12721,MS12787,MS12868,MS14421,MS14681,MS15030,MS15118,MS15487,MS15596,MS15642,MS16373,MS18240,MS18422,MS21124,MS22154,MS22321,MS22421,MS23451,MS23879,MS24405,MS24479,MS25338,MS25394,MS25888,MS26001,SP50756 esv22813 2 109056662 109061563 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11484 S 451 0 1 "" NA12004 esv21532 2 109129638 109130131 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20375 S 451 1 0 SH3RF3 NA11993 nsv874776 2 109176127 109338839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525433 S 6533 1 0 MIR4266,SH3RF3 SP56580 nsv511805 2 109179926 109183151 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626457 S 1 0 1 SH3RF3 1 esv2611227 2 109181618 109183130 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277260 S 1 0 1 SH3RF3 NA18507 nsv874777 2 109191948 110050606 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545428 S 6533 1 0 ANKRD57,LIMS3,LIMS3L,LIMS3-LOC440895,MIR4266,RGPD5,RGPD6,RGPD8,SEPT10,SH3RF3 MS16792 nsv508855 2 109207791 109275928 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621172 S 4 1 0 SH3RF3 NA15510 nsv874778 2 109240811 109323468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566137 S 6533 0 1 MIR4266,SH3RF3 IS30597 esv28484 2 109288494 109299827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10820,esv18282 M 451 0 3 MIR4266,SH3RF3 NA18907,NA19114,NA19190 nsv829616 2 109299300 109300220 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424793 S 31 0 1 SH3RF3 NA18947 nsv520698 2 109307676 109323468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697564 S 2026 0 1 SH3RF3 nsv508856 2 109310419 109392827 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621173 S 4 1 0 SH3RF3 NA15510 esv24995 2 109366306 109366911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19335 S 451 0 1 SH3RF3 NA18508 nsv2873 2 109416402 109451187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1529 S 9 1 0 SH3RF3 NA19240 nsv874780 2 109444512 109790175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525434 S 6533 1 0 ANKRD57,SEPT10,SH3RF3 SP56580 nsv2874 2 109646662 109690910 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2286 S 9 0 1 SEPT10 NA18555 nsv510884 2 109661296 110808031 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624375,nssv618631 M 4 0 0 ANKRD57,LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440895,MALL,MIR4267,NPHP1,RGPD5,RGPD6,RGPD8,SEPT10 CHM,NA18994 nsv829617 2 109717146 109737301 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428113 S 31 1 0 ANKRD57,SEPT10 AK10 nsv508857 2 109744121 109870926 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621174 S 4 1 0 "" NA15510 esv29112 2 109800216 109804879 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14570 S 451 0 1 "" NA18861 esv2751812 2 109814503 110337635 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983588,essv6983587 M 771 0 1 LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC100507334,LOC440895,MALL,MIR4267,NPHP1,RGPD5,RGPD6,RGPD8 BEC_670 dgv4263n71 2 109820577 110243431 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874786,nsv874781,nsv874784,nsv874783,nsv874785 M 6533 10 0 LIMS3,LIMS3L,LIMS3-LOC440895,LOC100288570,LOC100507334,LOC440895,MALL,MIR4267,NPHP1,RGPD5,RGPD6,RGPD8 IS41950,MS11002,MS13028,MS13770,MS14953,MS19852,SP50029,SP52694,SP54166,SP57073 dgv4264n71 2 109820577 111021091 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874782,nsv874787 M 6533 6 0 LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440895,MALL,MIR4267,NPHP1,RGPD5,RGPD6,RGPD8 IS35701,IS38308,IS40890,IS41747,IS41939,MS20030 nsv469649 2 110020374 110197525 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649577 M 265 0 0 Samples from several populations that are part of the HapMap project. LIMS3,LIMS3L,LIMS3-LOC440895,LOC100288570,LOC100507334,LOC440895,MIR4267 nsv508157 2 110033565 110098510 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619036,nssv620188 M 4 0 2 LIMS3,LIMS3L,LIMS3-LOC440895,LOC100288570,LOC100507334,LOC440895 NA10860,NA15510 esv28875 2 110040419 110090723 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16107 S 451 12 6 LIMS3,LIMS3L,LIMS3-LOC440895,LOC100288570,LOC100507334,LOC440895 NA06985,NA12004,NA12006,NA12239,NA12414,NA12878,NA18505,NA18511,NA18517,NA18858,NA18861,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv10114 2 110043909 110090538 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28154,nssv28436,nssv28196,nssv28401,nssv28204,nssv28775 M 31 3 2 Samples from several populations that are part of the HapMap project. LIMS3-LOC440895,LOC100288570,LOC100507334,LOC440895 NA12155,NA18552,NA18563,NA18942,NA18975 nsv7324 2 110060567 110203481 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2287 S 9 0 0 LIMS3-LOC440895,LOC100288570,LOC100507334,LOC440895,MALL,MIR4267 NA18555 dgv4265n71 2 110063435 111179862 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874825,nsv874828,nsv874796,nsv874835,nsv874836,nsv874797,nsv874790,nsv874834,nsv874830,nsv874788,nsv874793,nsv874795,nsv874801,nsv874794,nsv874800 M 6533 49 0 BUB1,LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC100507334,LOC151009,LOC440895,MALL,MIR4267,NPHP1,RGPD5,RGPD6,RGPD8 IS30109,IS30407,IS30635,IS30838,IS31183,IS31401,IS31563,IS33073,IS33178,IS33630,IS35027,IS35533,IS36936,IS37337,IS38191,IS38610,IS39243,IS39493,IS39860,IS40169,IS40825,IS41105,IS41984,MS10098,MS11105,MS11715,MS13703,MS13793,MS13810,MS14851,MS15940,MS16023,MS16271,MS17730,MS18182,MS19023,MS20041,MS20888,MS21937,MS22836,MS24381,SP51234,SP52626,SP56580,SP56777,SP57642,SP81181,SP81345,SP81397 dgv4266n71 2 110085004 110191475 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874789,nsv874791 M 6533 2 0 MIR4267 IS39205,SP56119 nsv874792 2 110089965 110228954 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592593 S 6533 1 0 MALL,MIR4267 IS39243 nsv499578 2 110090426 110210043 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585533 S 9 0 0 MALL,MIR4267 nsv834329 2 110090898 110249473 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442142,nssv1442143 M 95 2 0 MALL,MIR4267,NPHP1 nsv10115 2 110103230 110115134 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28640 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv24603 2 110106467 110112405 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20686 S 451 1 0 "" NA15510 nsv10116 2 110155546 110166003 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28391,nssv27832 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18502,NA18537 dgv4267n71 2 110161453 110574406 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874817,nsv874829,nsv874804,nsv874833,nsv874826,nsv874823,nsv874815,nsv874805,nsv874818,nsv874798 M 6533 17 0 LINC00116,LOC151009,MALL,MIR4267,NPHP1 SP50029,SP50098,SP50870,SP51302,SP52058,SP53330,SP53458,SP54058,SP54355,SP54561,SP55424,SP55511,SP55637,SP55647,SP55970,SP57669,SP81091 nsv10118 2 110167464 110168398 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27027 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv874799 2 110175122 110248722 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512863 S 6533 1 0 MALL,MIR4267,NPHP1 SP55647 esv2556499 2 110180470 110210246 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321381 S 1 1 0 MALL,MIR4267 NA18507 nsv458751 2 110186944 110292012 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535654 S 1557 0 1 MALL,NPHP1 NINDS_238 dgv471n27 2 110186944 110339819 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458762,nsv458785 M 1557 2 0 LINC00116,MALL,NPHP1 HGDP00587,HGDP01336 dgv472n27 2 110186944 110339819 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458829,nsv458796,nsv458774 M 1557 0 3 LINC00116,MALL,NPHP1 1782681092_A,HGDP01013,HGDP01191 nsv470479 2 110186944 110339819 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547240,nssv547239,nssv547241,nssv547238 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00116,MALL,NPHP1 HGDP00556,HGDP00587,HGDP01261,HGDP01271 nsv515996 2 110186944 110339819 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657774,nssv666615,nssv652386,nssv690777,nssv657202,nssv676989,nssv682555,nssv653095,nssv698586,nssv683838,nssv652365,nssv684422,nssv664504,nssv688084,nssv682264,nssv663600,nssv673564,nssv674877,nssv689579,nssv685248,nssv688659 M 2026 11 10 LINC00116,MALL,NPHP1 nsv818076 2 110186944 110339819 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417204 S 112 0 1 LINC00116,MALL,NPHP1 NA18558 dgv4268n71 2 110191475 110339819 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874808,nsv874806,nsv874802 M 6533 4 0 LINC00116,MALL,NPHP1 IS35107,IS35788,MS25038,SP54693 dgv4269n71 2 110191475 111021091 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv874831,nsv874822,nsv874803,nsv874819,nsv874821,nsv874807,nsv874811 M 6533 110 19 LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC151009,MALL,NPHP1,RGPD5,RGPD6,RGPD8 IS30197,IS30322,IS31920,IS32382,IS32892,IS32944,IS34051,IS34472,IS34962,IS35633,IS36248,IS36481,IS36600,IS36789,IS36899,IS37743,IS37891,IS38106,IS38137,IS38356,IS38436,IS39011,IS39205,IS39243,IS39361,IS39365,IS39503,IS39916,IS39929,IS40050,IS40557,IS40570,IS40606,IS40874,IS40883,IS41983,MS10362,MS10611,MS10714,MS10731,MS10994,MS11494,MS12039,MS12561,MS12751,MS13095,MS13162,MS13169,MS13211,MS14247,MS14281,MS14359,MS14665,MS14719,MS14809,MS14919,MS14942,MS15150,MS15487,MS15788,MS15871,MS16176,MS16376,MS16591,MS16835,MS16851,MS17067,MS17221,MS17231,MS17398,MS17485,MS17503,MS17609,MS17788,MS17798,MS17825,MS17872,MS18503,MS18815,MS19365,MS19886,MS20073,MS20200,MS20741,MS20854,MS20957,MS20987,MS21100,MS21249,MS21308,MS21458,MS22022,MS22411,MS22590,MS22639,MS22678,MS23542,MS23703,MS23958,MS24812,MS24868,MS24919,MS25177,MS25254,MS25345,MS25412,MS25683,MS26049,MS26069,SP50627,SP50822,SP51165,SP51387,SP51388,SP52921,SP53344,SP53776,SP54007,SP54802,SP55152,SP55179,SP55256,SP56342,SP57539,SP57831,SP81106,SP81238,SP81381,SP81512 dgv154e55 2 110191850 110337914 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34708,esv2751814 M 771 0 2 LINC00116,MALL,NPHP1 BEC_636,NA18558 dgv155e55 2 110191850 110337914 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34912,esv2751815 M 771 2 0 LINC00116,MALL,NPHP1 BEC_730,NA18966 essv3631 2 110192268 110312932 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MALL,NPHP1 NA18966 nsv508859 2 110193100 110193100 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619914 S 4 1 0 "" NA10860 esv994221 2 110204375 111169574 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563857 S 3 0 1 BUB1,LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC151009,MALL,NPHP1,RGPD5,RGPD6,RGPD8 HuRef nsv874809 2 110206673 110574406 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503959,nssv1518206,nssv1516132,nssv1513733,nssv1515866,nssv1501469 M 6533 3 3 LINC00116,LOC151009,MALL,NPHP1 SP51043,SP52139,SP55835,SP56301,SP56458,SP57472 dgv64n16 2 110207986 111170310 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436279,nsv435724 M 2 0 2 BUB1,LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC151009,MALL,NPHP1,RGPD5,RGPD6,RGPD8 NA15510,NA18505 dgv4270n71 2 110210546 110574406 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874812,nsv874810 M 6533 0 2 LINC00116,LOC151009,MALL,NPHP1 SP54393,SP57690 esv33999 2 110212141 110330690 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LINC00116,MALL,NPHP1 dgv473n27 2 110214532 110339819 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458951,nsv458918,nsv458873,nsv458818,nsv458851,nsv458862,nsv458885,nsv458907,nsv458807,nsv458840,nsv458929,nsv458962,nsv458940,nsv458896 M 1557 14 0 LINC00116,MALL,NPHP1 1780862390_A,1782681316_A,HGDP00234,HGDP00556,HGDP00594,HGDP00665,HGDP00757,HGDP01027,HGDP01261,HGDP01271,HGDP01308,NINDS_236,NINDS_271,NINDS_37 nsv874813 2 110217609 110243431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514025 S 6533 1 0 MALL,NPHP1 SP55883 nsv874814 2 110217609 110299785 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515928 S 6533 1 0 MALL,NPHP1 SP56313 nsv874816 2 110217609 110851117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518320,nssv1506211 M 6533 2 0 LIMS3,LIMS3L,LIMS3-LOC440895,LINC00116,LOC100288570,LOC151009,MALL,NPHP1,RGPD5,RGPD6,RGPD8 SP54078,SP57489 nsv2875 2 110224963 110269745 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7539 S 9 0 1 MALL,NPHP1 NA12156 nsv874820 2 110228954 110331912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542419 S 6533 1 0 LINC00116,MALL,NPHP1 MS15779 dgv4271n71 2 110243431 110305727 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874824,nsv874827 M 6533 2 0 NPHP1 SP54048,SP54725 nsv458973 2 110246397 110276610 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535822 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NPHP1 HGDP00116 nsv458984 2 110258184 110331984 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535832 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00116,NPHP1 HGDP00029 nsv874832 2 110270694 110299785 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515049,nssv1505897 M 6533 2 0 NPHP1 SP54042,SP56116 esv26792 2 110340666 110348620 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10428,esv10655,esv15984 M 451 4 4 "" NA12878,NA18505,NA18511,NA18861,NA19099,NA19108,NA19114,NA19147 nsv10120 2 110510006 110510940 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27157 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv10121 2 110512715 110523185 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27927,nssv28431 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18502,NA18537 esv27594 2 110561454 110573471 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15764 S 451 1 0 LOC151009 NA15510 nsv10122 2 110563235 110575253 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28680 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC151009 NA19240 esv29077 2 110588011 110634474 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14607 S 451 12 5 LIMS3-LOC440895,LOC100288570 NA06985,NA12004,NA12006,NA12239,NA12414,NA12878,NA18505,NA18517,NA18858,NA18861,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv10123 2 110589807 110634577 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28805,nssv28718,nssv28441,nssv28304,nssv28516,nssv28794 M 31 3 3 Samples from several populations that are part of the HapMap project. LIMS3-LOC440895,LOC100288570 NA12155,NA18563,NA18942,NA18975,NA19132,NA19173 nsv508159 2 110732394 110788076 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619038 S 4 0 1 RGPD5,RGPD6,RGPD8 NA10860 nsv874837 2 111084196 111179862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549295 S 6533 0 1 BUB1 MS18176 nsv874838 2 111093339 111762697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500874 S 6533 0 1 ACOXL,BCL2L11,BUB1 SP51049 nsv521956 2 111108728 112815283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694725 S 2026 0 1 ACOXL,ANAPC1,BCL2L11,BUB1,FBLN7,LOC541471,MERTK,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2,TMEM87B,ZC3H6,ZC3H8 nsv874839 2 111117406 111584481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567732 S 6533 1 0 ACOXL,BUB1 IS31144 esv269217 2 111180339 111180669 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507260,essv2502040 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18870,NA19257 esv7277 2 111292879 111293109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29718 S 1 0 1 ACOXL SJK nsv834330 2 111309761 111505918 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442144 S 95 1 0 ACOXL dgv4272n71 2 111321716 111411950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874841,nsv874840 M 6533 0 2 ACOXL IS32817,MS20011 esv267520 2 111398814 111399128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514622,essv2519306,essv2514987,essv2518168,essv2517738,essv2513637 M 157 6 0 Samples from several populations that are part of the HapMap project. ACOXL NA07347,NA11840,NA11894,NA12812,NA12872,NA12878 esv273432 2 111398815 111399123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582208 S 7 1 0 Samples from several populations that are part of the HapMap project. ACOXL NA12878 nsv819214 2 111437326 111440409 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419507 S 2 0 1 ACOXL AK1 nsv819716 2 111468512 111470088 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419286 S 2 1 0 ACOXL AK1 nsv834331 2 111528610 111721149 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442145 S 95 0 1 ACOXL,BCL2L11 nsv874842 2 111586691 111609455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509776 S 6533 0 1 ACOXL,BCL2L11 SP54956 nsv829618 2 111592098 111598018 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432674 S 31 1 0 ACOXL,BCL2L11 NA18972 nsv829619 2 111599609 111601846 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434944,nssv1435730,nssv1424828 M 31 0 3 BCL2L11 AK2,NA18566,NA18942 nsv428402 2 111616254 112379068 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454075,nssv454074 M 62 0 2 ANAPC1,BCL2L11,LOC541471,MERTK,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2 HGDP01088,HGDP01094 dgv1236e1 2 111616254 112463408 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20781,essv23511,essv3535,esv3,essv20040,essv16818,essv21801,essv22454,essv24859,essv22194 M 271 0 0 ANAPC1,BCL2L11,LOC541471,MERTK,MIR4435-1,MIR4435-2,MIR4771-1,MIR4771-2 NA07000,NA07034,NA07048,NA12044,NA12146,NA12239,NA12761,NA18872,NA18965 nsv520700 2 111647892 111665280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697565 S 2026 0 1 "" nsv874843 2 111683418 111739799 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567733 S 6533 1 0 "" IS31144 esv1591264 2 111689943 111690626 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931145 S 2 0 1 "" HuRef nsv10124 2 111696653 111700268 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28720,nssv28010,nssv28333,nssv27287,nssv28089,nssv27823,nssv27914,nssv28707,nssv26572,nssv26728 M 31 8 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA12740,NA18537,NA18564,NA18853,NA18980,NA19144,NA19240 esv24283 2 111697125 111699475 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16018 S 451 0 3 "" NA18502,NA18523,NA19240 nsv820598 2 111697125 111699475 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420245 S 1 0 1 "" NA10851 esv1093069 2 111697608 111698805 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857592 S 2 0 1 "" HuRef nsv821628 2 111710028 111964879 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421349,nssv1421348 M 31 2 0 LOC541471,MIR4435-1,MIR4435-2 nsv469744 2 111715331 111890105 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649765 M 265 2 0 Samples from several populations that are part of the HapMap project. LOC541471,MIR4435-1,MIR4435-2 dgv4273n71 2 111716529 111898564 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874844,nsv874848,nsv874845 M 6533 4 0 LOC541471,MIR4435-1,MIR4435-2 IS31651,IS41308,MS16493,MS21780 nsv874846 2 111716529 112089640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592595 S 6533 1 0 LOC541471,MIR4435-1,MIR4435-2 IS39243 esv26325 2 111724832 112091455 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17101,esv13781,esv10898 M 451 4 1 LOC541471,MIR4435-1,MIR4435-2 NA11894,NA12044,NA12239,NA18916,NA19147 nsv10125 2 111726171 111749918 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28382 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07048 dgv4274n71 2 111728783 111830015 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874849,nsv874847 M 6533 2 0 MIR4435-1,MIR4435-2 IS31039,MS18819 nsv10126 2 111753267 112091233 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28246,nssv28422,nssv28653,nssv28354,nssv28087 M 31 2 3 Samples from several populations that are part of the HapMap project. LOC541471,MIR4435-1,MIR4435-2 NA07048,NA10839,NA11830,NA18552,NA18975 dgv4275n71 2 111769426 111906113 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874850,nsv874854 M 6533 2 0 LOC541471,MIR4435-1,MIR4435-2 IS31419,MS21532 nsv2876 2 111773430 111806140 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4448 S 9 1 0 MIR4435-1,MIR4435-2 NA12878 nsv438367 2 111776301 111777519 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471086,nssv471087 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07345,NA07348 dgv4276n71 2 111776301 111859884 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874852,nsv874853,nsv874851 M 6533 4 0 LOC541471,MIR4435-1,MIR4435-2 IS31166,IS35270,MS18252,SP56089 nsv818077 2 111776301 111872714 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418350 S 112 1 0 LOC541471,MIR4435-1,MIR4435-2 NA12239 nsv522475 2 111776301 111957107 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705840 S 2026 1 0 LOC541471,MIR4435-1,MIR4435-2 nsv441774 2 111785250 111912704 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC541471,MIR4435-1,MIR4435-2 nsv874855 2 111840216 111979613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501825 S 6533 0 1 LOC541471 SP51049 esv32858 2 111891557 111922550 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101599,essv97606,essv94309,essv96971,essv98960,essv92899,essv98616,essv93376,essv98003,essv100299,essv99528 M 51 0 11 LOC541471 21603,21616,21808,21817,21938,21939,22085,22170,22259,22300,22335 nsv874856 2 111906113 112050407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567734 S 6533 1 0 LOC541471 IS31144 dgv1237e1 2 111914169 112282711 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17426,essv4501,essv18434,essv15003 M 271 0 0 ANAPC1,LOC541471,MIR4771-1,MIR4771-2 NA11831,NA12043,NA18552,NA18870 nsv834332 2 111914174 112119831 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442150,nssv1442148,nssv1442147,nssv1442146,nssv1442149 M 95 4 1 LOC541471 nsv2878 2 111955797 111987832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10230 S 9 1 0 LOC541471 NA18956 nsv507027 2 112023141 112029141 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617567,nssv620724,nssv623345,nssv622000 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv874857 2 112070916 112190343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567735 S 6533 1 0 "" IS31144 nsv874858 2 112070916 112228673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502143 S 6533 0 1 "" SP51049 esv268212 2 112105970 112106055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519080 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 dgv1238e1 2 112115624 112282711 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14542,essv12679,essv15249,essv5358,essv9020,essv16895,essv15044,essv11529,essv9347,essv13854,essv15690,essv9688,essv10937 M 271 0 0 ANAPC1,MIR4771-1,MIR4771-2 NA18500,NA18563,NA18853,NA18854,NA18912,NA18913,NA19094,NA19129,NA19132,NA19173,NA19202,NA19205,NA19209 nsv436295 2 112140858 112145328 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465937 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv270480 2 112163875 112164204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558110,essv2565633,essv2540835,essv2571727,essv2542606,essv2536731,essv2543966,essv2570881,essv2556566,essv2568252,essv2545464,essv2531930,essv2577531,essv2570511,essv2548434,essv2521792,essv2576648,essv2550560,essv2550275,essv2535354,essv2551984,essv2520549,essv2547428,essv2529318,essv2564345,essv2553867,essv2576130,essv2564065,essv2555083,essv2530669,essv2561970,essv2537660,essv2528227,essv2546839,essv2540092,essv2557332,essv2557083,essv2552384,essv2551805,essv2532164,essv2569309,essv2578723,essv2558797,essv2537012,essv2539121,essv2569842,essv2527366,essv2544737,essv2562871,essv2523818,essv2552763,essv2542911,essv2540569,essv2524376,essv2565123,essv2561053,essv2519762,essv2532689,essv2567875,essv2528958,essv2567378,essv2541695,essv2570080,essv2563827,essv2553370,essv2572447,essv2566866,essv2541970,essv2550973,essv2569090,essv2556384,essv2527974,essv2562273,essv2539434,essv2533989,essv2533721,essv2566395,essv2555837,essv2534268,essv2531551,essv2573376,essv2577142,essv2525659,essv2526805,essv2529763,essv2575735,essv2538837,essv2526461,essv2574780,essv2560517,essv2549849,essv2571135,essv2546009,essv2574213,essv2551595,essv2535993,essv2537756,essv2533312,essv2554346,essv2547981,essv2524898,essv2563509 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12489,NA12716,NA12717,NA12749,NA12751,NA12763,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18562,NA18566,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18853,NA18856,NA18858,NA18861,NA18871,NA18907,NA18909,NA18912,NA18916,NA18944,NA18948,NA18956,NA18959,NA18961,NA18964,NA18970,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19138,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274523 2 112163876 112164205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582013,essv2582270,essv2583083,essv2584042,essv2584495,essv2583573 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1498755 2 112163907 112163907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611943 S 2 1 0 "" HuRef esv270761 2 112170383 112170722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518483,essv2518173 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12872 esv27292 2 112191129 112298835 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11838,esv10638,esv20523 M 451 4 1 ANAPC1,MIR4771-1,MIR4771-2 NA11894,NA12044,NA12239,NA19108,NA19147 dgv4277n71 2 112193235 112297553 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874859,nsv874861 M 6533 2 0 ANAPC1,MIR4771-1,MIR4771-2 IS38441,MS18252 nsv10127 2 112193650 112321266 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28296,nssv28462,nssv27931,nssv28693 M 31 4 0 Samples from several populations that are part of the HapMap project. ANAPC1,MIR4771-1,MIR4771-2 NA07048,NA10839,NA18552,NA18572 nsv874860 2 112193835 112262330 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505383 S 6533 1 0 ANAPC1,MIR4771-1,MIR4771-2 SP53448 nsv834333 2 112206682 112374818 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442153,nssv1442152 M 95 2 0 ANAPC1,MERTK,MIR4771-1,MIR4771-2 nsv874862 2 112238368 112333751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555296 S 6533 0 1 ANAPC1,MIR4771-1,MIR4771-2 MS21258 nsv215236 2 112238865 112238960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233814 M 24 "" nsv215083 2 112254985 112255059 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233661 M 24 ANAPC1 nsv514974 2 112298232 112298552 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628476 S 1414 0 0 ANAPC1 nsv874863 2 112307695 112873815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501172 S 6533 0 1 ANAPC1,FBLN7,MERTK,RGPD8,TMEM87B,ZC3H6,ZC3H8 SP51049 esv26491 2 112309964 112357768 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10420,esv13735 M 451 2 0 ANAPC1 NA12287,NA18916 dgv4278n71 2 112333751 112820613 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874864,nsv874865 M 6533 2 0 ANAPC1,FBLN7,MERTK,TMEM87B,ZC3H6,ZC3H8 IS31144,SP53776 nsv525951 2 112367787 112369363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702158 S 2026 0 1 "" nsv526647 2 112367787 112455033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702973 S 2026 0 1 MERTK nsv515698 2 112415821 112512379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693497,nssv664457,nssv690449 M 2026 0 3 MERTK esv2442067 2 112418330 112418962 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199530 S 1 1 0 MERTK NA18507 nsv512776 2 112418445 112418756 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625407 S 1 1 0 MERTK 1 esv1040623 2 112418581 112418581 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839110 S 2 1 0 MERTK HuRef esv272913 2 112432996 112433149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581753,essv2583222 M 7 2 0 Samples from several populations that are part of the HapMap project. MERTK NA12878,NA12892 esv271080 2 112433004 112433106 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504425,essv2499352,essv2505065,essv2508890,essv2502757,essv2493271,essv2509773,essv2513342,essv2506966,essv2510860,essv2497518,essv2496909,essv2499786,essv2495834,essv2503886 M 157 15 0 Samples from several populations that are part of the HapMap project. MERTK NA07000,NA07037,NA11993,NA11994,NA12828,NA12878,NA12892,NA18504,NA18508,NA18907,NA19102,NA19116,NA19147,NA19190,NA19225 nsv213801 2 112433030 112435200 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232379 M 24 MERTK nsv829620 2 112542317 112548927 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425592 S 31 1 0 TMEM87B AK4 esv29608 2 112587674 112589694 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21108 S 451 0 4 TMEM87B NA12004,NA12489,NA12828,NA18523 nsv821426 2 112587674 112589694 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420246 S 1 0 1 TMEM87B NA10851 esv1378320 2 112588346 112588460 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606677 S 2 0 1 TMEM87B HuRef esv1510816 2 112588481 112589241 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080531 S 2 0 1 TMEM87B HuRef esv2057185 2 112588999 112589739 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787202 S 1 0 1 TMEM87B NA18507 esv22302 2 112612262 112614507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14942 S 451 0 5 FBLN7 NA11995,NA18858,NA18916,NA19108,NA19147 esv1152452 2 112613367 112613718 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118938 S 2 0 1 FBLN7 HuRef esv1437076 2 112613745 112613799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655270 S 2 0 1 FBLN7 HuRef nsv874866 2 112623070 112707569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536894 S 6533 0 1 FBLN7,ZC3H8 MS13011 nsv874867 2 112646535 112754880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596833 S 6533 0 1 FBLN7,ZC3H6,ZC3H8 IS40657 esv274158 2 112717860 112718159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580629,essv2579189 M 7 2 0 Samples from several populations that are part of the HapMap project. ZC3H8 NA19238,NA19239 esv269711 2 112718031 112718187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510975,essv2511451,essv2512441,essv2513147,essv2509950,essv2509065,essv2505749,essv2497534,essv2510469,essv2512161 M 157 10 0 Samples from several populations that are part of the HapMap project. ZC3H8 NA11831,NA11920,NA12043,NA12249,NA18508,NA18522,NA18861,NA19147,NA19172,NA19238 dgv4279n71 2 112738282 112814170 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874874,nsv874869,nsv874868,nsv874873,nsv874870 M 6533 0 6 ZC3H6 SP50754,SP52093,SP53041,SP56224,SP57401,SP57469 nsv874871 2 112738282 112934101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592596 S 6533 1 0 RGPD8,ZC3H6 IS39243 dgv4280n71 2 112744040 112787360 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874872,nsv874875 M 6533 2 0 ZC3H6 SP50532,SP55345 nsv819303 2 112761193 112766816 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419721 S 2 1 0 ZC3H6 AK1 esv29391 2 112761633 112766181 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18533 S 451 8 0 ZC3H6 NA12749,NA12776,NA12828,NA18523,NA18909,NA19108,NA19129,NA19147 nsv829621 2 112761750 112765422 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428115,nssv1433513,nssv1438296,nssv1423226,nssv1438026,nssv1438452,nssv1434945,nssv1435731,nssv1437304,nssv1440216,nssv1439540,nssv1424805,nssv1422457,nssv1427356,nssv1432676,nssv1424047 M 31 16 0 ZC3H6 AK10,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18999 nsv874876 2 112767762 112805738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505551 S 6533 0 1 ZC3H6 SP53687 nsv819480 2 112812737 112813382 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419038 S 2 0 1 ZC3H6 AK1 nsv874877 2 113004435 113098525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538830 S 6533 0 1 CHCHD5,POLR1B,TTL MS13777 nsv458997 2 113030265 113147563 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535845 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHCHD5,FLJ42351,POLR1B,SLC20A1 HGDP00948 nsv470480 2 113090421 113146223 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547242 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ42351,SLC20A1 HGDP00948 nsv526301 2 113167969 113212256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702582 S 2026 0 1 CKAP2L nsv441775 2 113178870 113195358 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1239e1 2 113185706 113195360 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1351,essv998 M 271 0 0 "" NA18964 nsv525790 2 113196085 113198018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701970 S 2026 0 1 "" esv2518569 2 113250066 113251472 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381204 S 1 0 1 IL1A NA18507 nsv2879 2 113356963 113390313 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7540 S 9 1 0 IL37 NA12156 esv2750599 2 113409871 113410906 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93342 S 51 0 1 "" 22170 nsv2880 2 113433273 113453392 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7541 S 9 0 1 IL36G NA12156 esv1005641 2 113436873 113444640 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564316 S 3 0 1 "" HuRef nsv874878 2 113459205 113492547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503540 S 6533 1 0 IL36A,IL36G SP52077 dgv4281n71 2 113480709 113489067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874879,nsv874881,nsv874880 M 6533 0 4 IL36A SP50649,SP51145,SP55970,SP57481 nsv874882 2 113482251 113489772 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513916,nssv1514338,nssv1517839,nssv1501047 M 6533 1 3 "" SP51035,SP55878,SP55996,SP57379 nsv874883 2 113483678 113489772 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504529 S 6533 1 0 "" SP52566 nsv874884 2 113489067 113493751 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506803 S 6533 1 0 "" SP54406 nsv874885 2 113500142 113523492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505276 S 6533 1 0 IL36B SP53347 nsv874886 2 113502975 113509247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519440 S 6533 0 1 IL36B SP81036 nsv874887 2 113513137 113516152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515231 S 6533 0 1 IL36B SP56143 dgv4282n71 2 113513137 113524525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874890,nsv874888 M 6533 0 2 IL36B SP54381,SP56007 nsv874889 2 113513137 113531141 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503541 S 6533 1 0 IL36B SP52077 nsv874891 2 113516862 113523615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508457 S 6533 0 1 IL36B SP54650 nsv2881 2 113517276 113563068 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6864 S 9 0 1 IL1F10,IL36B,IL36RN NA12156 nsv874892 2 113521468 113526592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519120 S 6533 0 1 IL36B SP80957 nsv874893 2 113523492 113526592 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507414 S 6533 1 0 IL36B SP54650 nsv874894 2 113546528 113549452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499748 S 6533 0 1 IL1F10 SP50159 nsv511806 2 113557532 113561069 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626458 S 1 0 1 "" 1 nsv874895 2 113587134 113592363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509314 S 6533 0 1 IL1RN SP54782 nsv508102 2 113589680 113595680 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618546,nssv622352 M 4 0 2 IL1RN CHM,NA10860 nsv874896 2 113590593 113592363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500480 S 6533 0 1 IL1RN SP50159 esv995178 2 113604579 113604750 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581393 S 3 0 1 IL1RN HuRef nsv874897 2 113651878 113661233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519441 S 6533 0 1 PSD4 SP81036 dgv4283n71 2 113651878 113678542 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874898,nsv874899 M 6533 2 0 PSD4 SP52077,SP54650 nsv874900 2 113664849 113684461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509777 S 6533 0 1 PSD4 SP54956 nsv459008 2 113689416 113727261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535853 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC654433,PAX8 HGDP00772 nsv508162 2 113699514 113816436 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622815 S 4 0 1 LOC654433,PAX8 NA18994 esv1341118 2 113710481 113710481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794696 S 2 1 0 LOC654433,PAX8 HuRef nsv874901 2 113739039 113796035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553749,nssv1588461 M 6533 0 2 LOC654433,PAX8 IS38207,MS20286 dgv1240e1 2 113791419 113972086 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5327,essv20021 M 271 0 0 CBWD2 NA07048,NA18563 esv380 2 113791419 114145148 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 CBWD2,DDX11L2,FAM138B,FOXD4L1,RABL2A,RPL23AP7,WASH2P nsv10129 2 113797345 113799278 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11610 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv271617 2 113822868 113823217 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519177,essv2517542,essv2514175,essv2518668,essv2514895,essv2516342,essv2518180,essv2514406,essv2517682 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12043,NA12045,NA12234,NA12814,NA12872,NA12874,NA12878 esv272547 2 113822868 113823217 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581497 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1962014 2 113867615 113870242 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675612 S 1 0 1 "" NA18507 esv28287 2 113884126 113983779 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18442 S 451 2 0 CBWD2,FOXD4L1 NA12878,NA18505 nsv10130 2 113887898 113970929 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11513,nssv28586 M 31 2 0 Samples from several populations that are part of the HapMap project. CBWD2 NA18563,NA18972 nsv834334 2 113892210 114055297 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442154 S 95 1 0 CBWD2,FAM138B,FOXD4L1 nsv874902 2 113895672 114017047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548905 S 6533 1 0 CBWD2,FOXD4L1 MS17909 nsv874903 2 113924147 114008387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513756 S 6533 1 0 CBWD2,FOXD4L1 SP55842 essv901 2 113968415 114145148 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CBWD2,DDX11L2,FAM138B,FOXD4L1,RABL2A,RPL23AP7,WASH2P NA19000 esv1003852 2 113997113 113997113 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578141 S 3 1 0 "" HuRef esv990792 2 113997154 113997154 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566216 S 3 1 0 "" HuRef nsv10131 2 114005290 114009204 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28626 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv10132 2 114028110 114029644 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26381,nssv11640,nssv28835 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA12802,NA19221 esv33899 2 114032411 114037165 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92908 S 51 0 1 "" 21939 nsv821507 2 114038741 114093035 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420248 S 1 1 0 DDX11L2,FAM138B,RPL23AP7,WASH2P NA10851 esv24774 2 114039297 114078338 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15077 S 451 23 0 DDX11L2,FAM138B,WASH2P NA07037,NA11894,NA11993,NA11995,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18505,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 nsv10133 2 114046311 114081063 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26554,nssv28630,nssv28622,nssv11670,nssv11543 M 31 5 0 Samples from several populations that are part of the HapMap project. DDX11L2,FAM138B,WASH2P NA12802,NA18504,NA18860,NA18972,NA19221 nsv513640 2 114074986 114077749 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626892 S 1 0 0 DDX11L2 1 nsv513641 2 114076849 114079592 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626893 S 1 0 0 DDX11L2 1 nsv508163 2 114081079 114147474 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620189 S 4 0 1 RABL2A,RPL23AP7 NA15510 nsv820374 2 114123980 114127935 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420249 S 1 0 1 "" NA10851 esv23429 2 114124665 114127756 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21338 S 451 23 1 "" NA07037,NA11993,NA11995,NA12156,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv2882 2 114169184 114203154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7542 S 9 1 0 MIR4782,SLC35F5 NA12156 nsv819660 2 114188280 114188623 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418782 S 2 0 1 SLC35F5 AK1 nsv2883 2 114224359 114251669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1530 S 9 0 1 SLC35F5 NA19240 nsv498931 2 114243287 114248172 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585792 S 9 0 1 "" esv24550 2 114243591 114247800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14064 S 451 0 1 "" NA19240 esv1002311 2 114264259 114268605 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564948 S 3 1 0 "" HuRef nsv829622 2 114288225 114289407 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438407,nssv1424831 M 31 0 2 "" AK2,NA18592 esv1312290 2 114295525 114295605 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090338 S 2 0 1 "" HuRef nsv829623 2 114356850 114357475 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440913 S 31 0 1 "" NA18969 nsv508860 2 114415371 114430395 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618008,nssv623872 M 4 2 0 ACTR3 CHM,NA18994 esv990446 2 114422724 114423303 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565194 S 3 1 0 ACTR3 HuRef esv275040 2 114442316 114445557 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585451 S 1250 0 1 "" esv7267 2 114443906 114443985 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29708 S 1 1 0 "" SJK nsv874904 2 114468161 115321532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589630 S 6533 0 1 DPP10,LOC440900 IS38390 nsv829624 2 114508415 114836396 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431906 S 31 0 1 "" AK20 esv2535484 2 114557885 114559392 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251712 S 1 0 1 "" NA18507 esv26705 2 114558359 114559240 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12182 S 451 0 4 "" NA18505,NA19099,NA19114,NA19225 nsv820529 2 114558359 114559240 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420250 S 1 0 1 "" NA10851 nsv214938 2 114584532 114584585 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233516 M 24 "" nsv874905 2 114628539 114693448 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547939 S 6533 1 0 "" MS17637 esv2306827 2 114670786 114671245 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890890 S 1 0 1 "" NA18507 nsv2884 2 114792061 114836897 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7543 S 9 0 1 "" NA12156 nsv526658 2 114805057 114849384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702986 S 2026 0 1 "" nsv874906 2 114821424 114995208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547940 S 6533 1 0 DPP10 MS17637 nsv834337 2 114886284 115058343 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442155 S 95 1 0 DPP10 esv274120 2 114904826 114905064 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580005 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv272017 2 114904857 114905161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540149,essv2569525,essv2561462,essv2572777,essv2568777,essv2545123,essv2571557 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18508,NA18523,NA19143,NA19147,NA19172,NA19238 esv1920692 2 114952877 114953238 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768940 S 1 0 1 DPP10 NA18507 esv1621943 2 114953096 114953198 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654597 S 2 0 1 DPP10 HuRef esv2259036 2 114971115 114971564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728199 S 1 0 1 DPP10 NA18507 esv1031832 2 114971333 114971395 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162251 S 2 0 1 DPP10 HuRef nsv834338 2 115036655 115197699 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442156 S 95 0 1 DPP10 nsv437290 2 115104756 115122162 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467171 S 60 0 1 Samples from several populations that are part of the HapMap project. DPP10 NA18521 esv26077 2 115107262 115119150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10930 S 451 0 2 DPP10 NA18502,NA19257 nsv10134 2 115108235 115119681 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28662,nssv26731,nssv27407,nssv28471 M 31 0 4 Samples from several populations that are part of the HapMap project. DPP10 NA18502,NA18504,NA18853,NA19144 nsv516975 2 115108946 115110997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661679,nssv692545,nssv678774,nssv663076,nssv693904,nssv677426,nssv692030,nssv676055,nssv671545,nssv692493,nssv680085,nssv653781,nssv669967,nssv653539,nssv692171 M 2026 0 15 DPP10 esv2421461 2 115108946 115117469 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051749,essv5062841,essv5028360,essv5020105,essv5120878,essv5079221,essv5130136,essv5068601,essv5022002,essv5107911,essv5026092,essv5043744,essv5156300,essv5058156,essv5119444,essv5072708,essv5126391,essv5133384,essv5039848,essv5028087,essv5095782,essv5032918,essv5065932,essv5012290,essv5055740,essv5103751,essv5145333 M 1184 0 27 DPP10 NA18500,NA18503,NA18504,NA18853,NA18871,NA18872,NA19094,NA19131,NA19137,NA19139,NA19144,NA19152,NA19185,NA19186,NA19257,NA19258,NA19315,NA19375,NA19383,NA19443,NA19457,NA19713,NA19835,NA19836,NA19914,NA19983,NA21307 nsv442828 2 115112891 115117469 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DPP10 nsv514085 2 115114344 115116992 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627031 S 1414 0 1 DPP10 esv23278 2 115167069 115171065 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10117 S 451 1 0 DPP10 NA15510 nsv459019 2 115211612 115315483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535864 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP10 HGDP00786 dgv4284n71 2 115231523 115253261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874907,nsv874909,nsv874914,nsv874908,nsv874912 M 6533 0 84 DPP10 IS35140,IS35347,IS38491,IS40105,MS10127,MS10721,MS11858,MS12027,MS12041,MS12281,MS12461,MS12542,MS12551,MS12785,MS13040,MS13257,MS13319,MS13358,MS13360,MS13379,MS13383,MS13390,MS13693,MS13932,MS13957,MS14313,MS14522,MS14644,MS14764,MS14804,MS15269,MS15397,MS15576,MS15737,MS16192,MS16252,MS16635,MS16774,MS17156,MS17389,MS17508,MS17527,MS17898,MS18101,MS18352,MS18376,MS18414,MS18480,MS18756,MS18803,MS18970,MS19023,MS19460,MS19831,MS20670,MS21088,MS21236,MS21522,MS22764,MS22854,MS22952,MS23174,MS23542,MS23725,MS23885,MS24357,MS24471,MS24692,MS24705,MS24736,MS25042,MS25163,MS25216,MS25255,MS25725,MS25768,MS26128,SP50023,SP50592,SP51144,SP52734,SP56663,SP56707,SP57506 dgv4285n71 2 115231523 115259488 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874913,nsv874910 M 6533 0 13 DPP10 IS36141,MS13095,MS13469,MS14485,MS15337,MS19486,MS19488,MS20334,MS22179,MS22756,MS24939,SP56458,SP80959 dgv4286n71 2 115231523 115270860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874911,nsv874915 M 6533 0 2 DPP10 MS14374,SP58409 nsv470481 2 115236674 115251611 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547243 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP10 HGDP00711 nsv437513 2 115236675 115259488 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467394 S 60 0 1 Samples from several populations that are part of the HapMap project. DPP10 NA07048 nsv523446 2 115249356 115253261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699202 S 2026 0 1 DPP10 nsv515750 2 115251611 115253261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681717,nssv681442,nssv663556,nssv689200,nssv686900,nssv683283,nssv685666,nssv668175,nssv666018,nssv664672,nssv690980,nssv687909,nssv670004,nssv660180 M 2026 0 14 DPP10 nsv526597 2 115251611 115259488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702916 S 2026 0 1 DPP10 nsv441776 2 115252786 115258540 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DPP10 nsv514086 2 115252880 115258480 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627042 S 1414 0 1 DPP10 esv273231 2 115255540 115255869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584280,essv2583706 M 7 2 0 Samples from several populations that are part of the HapMap project. DPP10 NA19238,NA19240 nsv522770 2 115303409 115304536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698411 S 2026 0 1 DPP10 nsv874916 2 115306076 115364053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586668 S 6533 0 1 DPP10 IS37915 esv2601468 2 115344024 115345968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223684 S 1 0 1 DPP10 NA18507 nsv511185 2 115344160 115355858 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626388 S 1 0 1 DPP10 1 nsv821025 2 115344372 115345629 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420251 S 1 0 1 DPP10 NA10851 nsv829626 2 115344372 115345629 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433514,nssv1439542,nssv1426488,nssv1429651,nssv1438463,nssv1436439,nssv1432677,nssv1440217,nssv1424817,nssv1424407,nssv1424048,nssv1440914 M 31 0 12 DPP10 AK14,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18582,NA18947,NA18968,NA18969,NA18972 nsv511807 2 115344385 115346631 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626459 S 1 0 1 DPP10 1 esv2127128 2 115344388 115345501 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998351 S 1 0 1 DPP10 NA18507 esv29876 2 115344490 115345542 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13298 S 451 16 1 DPP10 NA06985,NA11995,NA12004,NA12287,NA12489,NA12749,NA18502,NA18505,NA18508,NA18517,NA18861,NA18907,NA18909,NA18916,NA19129,NA19147,NA19240 nsv829627 2 115344527 115345405 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438518,nssv1437305,nssv1438027,nssv1431907,nssv1421545,nssv1431165,nssv1434264,nssv1434946,nssv1438671,nssv1424832,nssv1428906,nssv1427357 M 31 0 12 DPP10 AK12,AK18,AK2,AK20,AK8,NA18570,NA18592,NA18942,NA18949,NA18951,NA18973,NA18997 esv3967 2 115344543 115345396 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26408 S 1 0 1 Single Asian sample YH DPP10 YH esv1005195 2 115344574 115345312 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581032 S 3 0 1 DPP10 HuRef esv5817 2 115344580 115345314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28258 S 1 0 1 DPP10 SJK nsv829628 2 115344897 115345405 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435732 S 31 0 1 DPP10 NA18566 nsv2885 2 115363854 115409480 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6865 S 9 0 1 DPP10 NA12156 nsv874917 2 115439504 115505063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600198 S 6533 0 1 DPP10 IS41859 esv1001957 2 115513906 115516589 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568949 S 3 0 1 DPP10 HuRef dgv474n27 2 115517079 115551123 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459030,nsv459041 M 1557 0 2 DPP10 1780862001_A,1780862459_A esv273926 2 115550308 115550403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580773 S 7 1 0 Samples from several populations that are part of the HapMap project. DPP10 NA19238 esv269203 2 115550319 115550636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576092,essv2526114,essv2523090,essv2548589,essv2564504,essv2565314,essv2561967,essv2520749,essv2557353,essv2552623,essv2569282,essv2558844,essv2538895,essv2561333,essv2544742,essv2523887,essv2553057,essv2541178,essv2540618,essv2524706,essv2565130,essv2539601,essv2522060,essv2532589,essv2567620,essv2569991,essv2563792,essv2553426,essv2572531,essv2559124,essv2566690,essv2543529,essv2562260,essv2533881,essv2555218,essv2567202,essv2527452,essv2557700,essv2556112,essv2534386,essv2573705,essv2525690,essv2538624,essv2560623,essv2524199,essv2574592,essv2530301,essv2549809,essv2571245,essv2574249,essv2551385 M 157 51 0 Samples from several populations that are part of the HapMap project. DPP10 NA11830,NA11918,NA12004,NA12045,NA12751,NA12812,NA12874,NA18498,NA18499,NA18502,NA18508,NA18516,NA18519,NA18523,NA18526,NA18537,NA18542,NA18545,NA18552,NA18555,NA18558,NA18563,NA18571,NA18576,NA18582,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18870,NA18909,NA18916,NA18943,NA18947,NA18952,NA18953,NA18956,NA18959,NA18964,NA18980,NA19108,NA19116,NA19129,NA19138,NA19141,NA19225,NA19238,NA19240,NA19257 nsv520403 2 115589266 115591012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697395 S 2026 0 1 DPP10 esv2554100 2 115622884 115624326 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235394 S 1 0 1 DPP10,LOC389023 NA18507 nsv834339 2 115669768 115849449 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442158,nssv1442157 M 95 2 0 DPP10 nsv526317 2 115678272 115680476 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702603 S 2026 1 0 DPP10 nsv522754 2 115699889 115719648 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698391 S 2026 1 0 DPP10 nsv874918 2 115815135 115900416 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565265,nssv1552119,nssv1557408,nssv1564718,nssv1554517,nssv1580034 M 6533 0 6 DPP10 IS30292,IS30378,IS35227,MS19226,MS20850,MS22662 nsv874919 2 115847179 115936156 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538525 S 6533 1 0 DPP10 MS13758 esv1285088 2 115900584 115900634 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830410 S 2 0 1 DPP10 HuRef esv2494215 2 115912646 115914387 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354700 S 1 0 1 DPP10 NA18507 esv21902 2 115912754 115913582 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21323 S 451 0 5 DPP10 NA18502,NA18505,NA18916,NA19114,NA19129 esv5605 2 115952659 115952747 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28046 S 1 1 0 DPP10 SJK esv269844 2 116097927 116098070 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552553,essv2561326,essv2541900,essv2526552,essv2560879,essv2530264,essv2571361,essv2545795,essv2574524 M 157 9 0 Samples from several populations that are part of the HapMap project. DPP10 NA18502,NA18523,NA18856,NA19114,NA19137,NA19141,NA19238,NA19239,NA19240 esv274371 2 116097929 116098182 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583948,essv2584588,essv2583771 M 7 3 0 Samples from several populations that are part of the HapMap project. DPP10 NA19238,NA19239,NA19240 nsv874920 2 116152844 116291583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538074 S 6533 0 1 DPP10 MS13480 esv268410 2 116190775 116191120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510678,essv2494157,essv2496408,essv2505995,essv2507205,essv2509155,essv2506587,essv2502014 M 157 8 0 Samples from several populations that are part of the HapMap project. DPP10 NA18501,NA18502,NA18510,NA18523,NA18870,NA18909,NA19108,NA19257 nsv520606 2 116193710 116204990 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697515 S 2026 1 0 DPP10 essv5982 2 116213998 116391820 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DPP10 NA18552 esv35070 2 116213998 116453178 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990363,essv6986862,essv6979423 M 771 1 0 DPP10 NA18552 dgv1241e1 2 116213998 116516763 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4447,esv666 M 271 0 0 DPP10 NA18552 esv28528 2 116217719 116219847 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15342 S 451 0 2 DPP10 NA12044,NA12776 nsv10135 2 116248613 116391257 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28824,nssv28346 M 31 1 1 Samples from several populations that are part of the HapMap project. DPP10 NA18552,NA19132 nsv829629 2 116248904 116392924 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422458 S 31 1 0 DPP10 NA18552 dgv4287n71 2 116249416 116333246 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874922,nsv874921 M 6533 2 0 DPP10 IS33850,MS24701 dgv4288n71 2 116249416 116395479 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874928,nsv874930,nsv874931,nsv874926,nsv874924,nsv874932,nsv874925,nsv874923,nsv874927,nsv874929 M 6533 25 0 DPP10 MS11078,MS13916,MS16032,MS16337,MS17450,MS20039,MS24010,MS25177,MS25239,MS25285,MS25357,SP50128,SP51140,SP52110,SP52633,SP53240,SP53256,SP53458,SP54108,SP54966,SP55287,SP55886,SP56079,SP56818,SP58465 nsv459052 2 116252353 116390531 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535893 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP10 HGDP01103 nsv874933 2 116354973 116391820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560771 S 6533 1 0 "" MS24701 nsv874934 2 116362645 116485481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506228 S 6533 1 0 "" SP54083 nsv437292 2 116372265 116379752 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467173 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19145 dgv61n17 2 116378186 116379752 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437293,nsv437535,nsv437294,nsv437524 M 60 0 4 "" NA10838,NA12878,NA19132,NA19194 nsv820618 2 116378436 116379184 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420252 S 1 0 1 "" NA10851 dgv661n67 2 116378517 116379184 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829631,nsv829630,nsv829632 M 31 17 0 "" AK10,AK14,AK18,AK8,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18949,NA18951,NA18969,NA18973,NA18997 nsv819822 2 116378533 116379146 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419025 S 2 1 0 "" AK1 esv28279 2 116378535 116379148 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13290 S 451 26 0 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147 esv1003647 2 116378546 116379125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576575 S 3 0 1 "" HuRef nsv2886 2 116396924 116429604 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1531,nssv5812,nssv9861,nssv10231,nssv2288,nssv4449 M 9 6 0 "" NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508861 2 116406277 116449824 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623873,nssv619915,nssv621175 M 4 3 0 "" NA10860,NA15510,NA18994 esv1002617 2 116412190 116412196 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564646 S 3 1 0 "" HuRef esv1689219 2 116412191 116412191 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334361 S 2 1 0 "" HuRef esv2570284 2 116470732 116472145 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242196 S 1 0 1 "" NA18507 esv2339242 2 116515114 116515557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507636 S 1 0 1 "" NA18507 nsv874935 2 116550707 116768266 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582483 S 6533 1 0 "" IS35968 nsv834340 2 116589427 116791366 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442159 S 95 1 0 "" nsv874936 2 116672237 117179726 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506229 S 6533 1 0 "" SP54083 nsv829633 2 116690784 116692799 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433516 S 31 0 1 "" NA18526 esv2170861 2 116690922 116694948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931912 S 1 0 1 "" NA18507 esv4423 2 116691040 116694825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26864 S 1 0 1 Single Asian sample YH "" YH esv2471812 2 116691051 116695822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212835 S 1 0 1 "" NA18507 esv8152 2 116691075 116698350 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30593 S 1 0 0 "" SJK esv9279 2 116691106 116694771 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31720 S 1 0 1 "" SJK esv7868 2 116694767 116698535 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30309 S 1 0 0 "" SJK nsv874937 2 116739298 116816630 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561261 S 6533 1 0 "" MS24900 nsv874938 2 116739298 116843027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546057 S 6533 0 1 "" MS17114 nsv527931 2 116787683 116797239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704439 S 2026 0 1 "" nsv874939 2 116788404 116811496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518371 S 6533 0 1 "" SP57518 nsv834341 2 116844769 117016750 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442160 S 95 1 0 "" esv267918 2 116903565 116903885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511921,essv2510732,essv2504200,essv2496508,essv2496291,essv2500928,essv2498462,essv2505823,essv2509273,essv2495541,essv2510391 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18505,NA18510,NA18511,NA18856,NA18858,NA18861,NA18909,NA18916,NA19172 esv2345086 2 116917390 116917826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517241 S 1 0 1 "" NA18507 esv1971547 2 116956065 116956494 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903801 S 1 0 1 "" NA18507 nsv524892 2 116968220 116973471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700898 S 2026 0 1 "" nsv874940 2 116968220 117253809 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561262 S 6533 1 0 "" MS24900 nsv523107 2 116971317 116993917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698804 S 2026 0 1 "" nsv829634 2 117032480 117037556 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431167 S 31 0 1 "" AK18 nsv874941 2 117053202 117409363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541068 S 6533 1 0 "" MS15191 nsv2887 2 117182140 117199179 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1532 S 9 1 0 "" NA19240 dgv1242e1 2 117201260 117467903 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18325,essv18060,essv20870,essv24646,esv535 M 271 0 0 "" NA10846,NA12145 dgv156e55 2 117201499 117461061 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34564,esv34519 M 771 0 2 "" NA10846,NA12145 dgv4289n71 2 117253809 117351068 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874945,nsv874943,nsv874944,nsv874942 M 6533 0 5 "" IS31617,IS32607,IS38235,IS41113,MS16048 esv272136 2 117259528 117259665 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493209,essv2503021,essv2496335,essv2505940,essv2513506,essv2506715 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18507,NA18510,NA18861,NA18907,NA19108 nsv834342 2 117259712 117433830 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442161 S 95 1 0 "" nsv874946 2 117282358 117336120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534096,nssv1529785 M 6533 0 2 "" MS10123,MS11467 nsv874947 2 117307221 117689624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521664 S 6533 0 1 "" SP52523 nsv874948 2 117308956 117348988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506187,nssv1515139,nssv1501766,nssv1501661,nssv1501697 M 6533 0 5 "" SP50783,SP51021,SP51022,SP54058,SP56126 esv3758 2 117311261 117311664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26199 S 1 0 1 Single Asian sample YH "" YH esv2173998 2 117364076 117364490 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998207 S 1 0 1 "" NA18507 esv2296673 2 117375525 117376000 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527409 S 1 0 1 "" NA18507 nsv10136 2 117411541 117415360 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29201 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv10137 2 117444460 117453279 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26871 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 esv23548 2 117444985 117452853 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17009 S 451 0 2 "" NA18523,NA18909 nsv441777 2 117445778 117452675 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514087 2 117445840 117452704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627053 S 1414 0 1 "" esv25862 2 117485741 117509162 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20255 S 451 2 0 "" NA18505,NA19099 nsv441778 2 117489208 117508223 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv157e55 2 117490315 117653699 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751817,esv2751816 M 771 2 0 "" BEC_695,BEC_768 nsv436668 2 117508485 117512759 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465938 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2621673 2 117515127 117518869 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304565 S 1 0 1 "" NA18507 esv1725558 2 117515439 117515520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945782 S 2 0 1 "" HuRef esv1136220 2 117517537 117517537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319883 S 2 1 0 "" HuRef esv1714683 2 117517611 117517611 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994762 S 2 1 0 "" HuRef esv1485649 2 117518542 117518542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791640 S 2 1 0 "" HuRef dgv224n21 2 117537414 117627827 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520262,nsv522143,nsv520236 M 2026 3 0 "" nsv459063 2 117537414 117627827 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535904 S 1557 1 0 "" 1780854537_A nsv526504 2 117567016 117584327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702814 S 2026 0 1 "" nsv874949 2 117599267 117815863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576586 S 6533 0 1 "" IS34141 esv2477049 2 117608320 117610024 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263640 S 1 0 1 "" NA18507 esv4069 2 117609457 117609932 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26510 S 1 0 1 Single Asian sample YH "" YH esv8583 2 117609533 117609858 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31024 S 1 0 1 "" SJK dgv158e55 2 117662952 117848802 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751818,esv2751820 M 771 0 2 "" BEC_431,BEC_515 dgv159e55 2 117663469 118161806 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751822,esv2751821,esv2751819 M 771 0 3 "" BEC_319,BEC_361,SPC_171 dgv225n21 2 117689624 117827165 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528043,nsv521712 M 2026 0 2 "" esv2428070 2 117719762 117721171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222777 S 1 0 1 "" NA18507 esv1705588 2 117752410 117752410 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324938 S 2 1 0 "" HuRef esv2444917 2 117875310 117876899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274834 S 1 0 1 "" NA18507 esv2618536 2 117886929 117888258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182074 S 1 0 1 "" NA18507 esv1000546 2 117887669 117887756 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581920 S 3 0 1 "" HuRef esv994367 2 117887735 117887844 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584460 S 3 0 1 "" HuRef esv1158943 2 117887818 117887884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618634 S 2 0 1 "" HuRef esv271480 2 117894956 117895185 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501080,essv2494886,essv2505922,essv2513363,essv2498775,essv2496912 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18520,NA18861,NA18907,NA19138,NA19190 dgv160e55 2 117940234 118151074 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751823,esv2751824 M 771 0 2 "" BEC_431,BEC_515 esv992228 2 117946380 117952523 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564398 S 3 0 1 "" HuRef nsv459085 2 117955031 118032779 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535919 S 1557 0 1 "" 1780862598_A dgv226n21 2 117975267 118114972 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521715,nsv528044 M 2026 0 2 "" esv1003231 2 118021558 118021558 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573480 S 3 1 0 "" HuRef nsv874950 2 118052748 118250730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580648 S 6533 1 0 "" IS35411 dgv227n21 2 118071791 118081192 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519214,nsv520801 M 2026 2 0 "" esv1936820 2 118083930 118084252 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798674 S 1 0 1 "" NA18507 nsv508103 2 118116853 118122853 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622353,nssv618547,nssv621530,nssv624278 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2467134 2 118117028 118117970 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215339 S 1 1 0 "" NA18507 nsv214971 2 118117588 118117638 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233549 M 24 "" nsv874951 2 118132485 118190486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553931 S 6533 0 1 "" MS20440 nsv2889 2 118285981 118314322 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6866 S 9 1 0 DDX18 NA12156 esv1593688 2 118345877 118345877 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225529 S 2 1 0 "" HuRef esv2421656 2 118377621 118383656 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5034784,essv5130091,essv5099680,essv5011832,essv5132443,essv5096503,essv5144446,essv5068281,essv5129263,essv5124886,essv5100542,essv5018209,essv5070584,essv5109337,essv5037756,essv5101512,essv5058375,essv5136456,essv5056658 M 1184 0 19 "" NA18499,NA18916,NA18930,NA19035,NA19711,NA21301,NA21302,NA21312,NA21333,NA21344,NA21368,NA21370,NA21402,NA21404,NA21405,NA21435,NA21454,NA21617,NA21632 esv27439 2 118382089 118384103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10577 S 451 0 1 "" NA18916 nsv515493 2 118444805 118458624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655712,nssv653306,nssv670536,nssv653429 M 2026 0 4 CCDC93 esv2177498 2 118457480 118457909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649135 S 1 0 1 CCDC93 NA18507 esv2373227 2 118506893 118507326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815951 S 1 0 1 "" NA18507 nsv215383 2 118507122 118507175 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233961 M 24 "" esv1023792 2 118516487 118516487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723249 S 2 1 0 "" HuRef esv271473 2 118532233 118532370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506766,essv2507788,essv2495587,essv2503669,essv2495027,essv2499581 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07357,NA11918,NA12751,NA18916 esv2596819 2 118566506 118569056 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192747 S 1 0 1 INSIG2 NA18507 esv21565 2 118566883 118568468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19868 S 451 0 2 INSIG2 NA18909,NA19240 nsv820793 2 118566883 118568468 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420253 S 1 0 1 INSIG2 NA10851 esv2269282 2 118566916 118568564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849725 S 1 0 1 INSIG2 NA18507 esv1042101 2 118566981 118567483 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087592 S 2 0 1 INSIG2 HuRef esv1527073 2 118567573 118567622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608127 S 2 0 1 INSIG2 HuRef esv1244468 2 118567987 118568135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185632 S 2 0 1 INSIG2 HuRef esv1675960 2 118568141 118568210 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661460 S 2 0 1 INSIG2 HuRef nsv834343 2 118589881 118758804 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442163 S 95 1 0 "" nsv820970 2 118597743 118598849 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420254 S 1 0 1 "" NA10851 nsv819642 2 118597849 118598874 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419155 S 2 1 0 "" AK1 esv27755 2 118597881 118598728 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17390 S 451 35 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv259609 2 118610356 118610666 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394112,essv2393786,essv2393767,essv2394384 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv259882 2 118610367 118610680 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396078,essv2394794,essv2399073,essv2400304,essv2401144,essv2400912,essv2398873,essv2395774,essv2397580,essv2399960,essv2396643,essv2395391,essv2397367,essv2396911,essv2395633,essv2397621,essv2397789,essv2396572,essv2396527,essv2395687,essv2400722,essv2400936,essv2400859,essv2399561,essv2398979,essv2399490,essv2400079,essv2398245,essv2395325,essv2394908,essv2396197,essv2397499,essv2395437,essv2398151,essv2397148,essv2397728,essv2394546,essv2398376,essv2400992,essv2395168,essv2394822,essv2395930,essv2400527 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA10851,NA11881,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12414,NA12749,NA12878,NA12892,NA18501,NA18502,NA18505,NA18507,NA18517,NA18532,NA18542,NA18547,NA18564,NA18570,NA18603,NA18858,NA18861,NA18909,NA18916,NA18942,NA18944,NA18947,NA18948,NA18949,NA18951,NA18956,NA18965,NA19093,NA19099,NA19108,NA19114,NA19238,NA19240 esv7540 2 118610490 118610561 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29981 S 1 1 0 "" SJK esv7405 2 118610557 118610635 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29846 S 1 1 0 "" SJK nsv214397 2 118610573 118610573 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232975 M 24 "" esv1212653 2 118622614 118622766 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044838 S 2 0 1 "" HuRef nsv214305 2 118622615 118622766 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232883 M 24 "" nsv527847 2 118681330 118695360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704345 S 2026 0 1 "" nsv820103 2 118730050 118735252 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419691 S 2 0 1 "" AK1 nsv834344 2 118735459 118895776 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442165,nssv1442164 M 95 2 0 "" nsv2890 2 118758952 118804050 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7544 S 9 0 1 "" NA12156 esv2541752 2 118762471 118763882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277744 S 1 0 1 "" NA18507 nsv829635 2 118762538 118763407 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434947 S 31 1 0 "" NA18942 nsv874952 2 118764565 118841143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568528 S 6533 0 1 "" IS31302 esv2182788 2 118776684 118779325 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998628 S 1 0 1 "" NA18507 nsv433210 2 118777060 118778863 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463091 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 esv1429239 2 118779185 118779243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158626 S 2 0 1 "" HuRef nsv527609 2 118802378 118821447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704072 S 2026 0 1 "" nsv874953 2 118816292 118891455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554915 S 6533 0 1 "" MS21100 esv268874 2 118855047 118858400 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496162,essv2494899,essv2500930 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18520,NA18856 esv272996 2 118872159 118872509 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581502 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1003096 2 118889355 118900864 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565245 S 3 0 1 "" HuRef nsv522937 2 118941038 118950142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698600 S 2026 0 1 "" nsv526859 2 119024129 119032228 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703217 S 2026 0 1 "" esv2026428 2 119029968 119030398 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748342 S 1 0 1 "" NA18507 nsv874954 2 119162500 119229115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556246 S 6533 0 1 "" MS21868 nsv874955 2 119165831 119221680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536960 S 6533 1 0 "" MS13032 esv268779 2 119256849 119257183 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540780,essv2546186,essv2545402,essv2577273,essv2548403,essv2547132,essv2564428,essv2576396,essv2530777,essv2533660,essv2543213,essv2526748,essv2547667 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11831,NA11881,NA12003,NA12043,NA12045,NA12717,NA12751,NA12814,NA12873,NA18944,NA18965,NA19005 nsv2891 2 119266698 119306161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7545 S 9 0 1 "" NA12156 nsv874956 2 119304672 119335166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510663 S 6533 0 1 EN1 SP54988 esv2436600 2 119341031 119342636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393501 S 1 0 1 "" NA18507 esv1230375 2 119341846 119341902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592174 S 2 0 1 "" HuRef nsv2892 2 119351447 119403276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2289,nssv10232,nssv1533 M 9 0 3 "" NA18555,NA18956,NA19240 nsv436263 2 119368136 119376179 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465939 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv4991 2 119369766 119375945 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27432 S 1 0 1 Single Asian sample YH "" YH esv6507 2 119369815 119375814 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28948 S 1 0 1 "" SJK esv1516481 2 119386852 119386852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314182 S 2 1 0 "" HuRef nsv459119 2 119426870 119988253 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535943 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1QL2,C2orf76,DBI,MARCO,SCTR,STEAP3,TMEM37 HGDP00158 esv2380956 2 119430281 119430778 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699258 S 1 0 1 MARCO NA18507 esv2544799 2 119430453 119430589 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208123 S 1 0 1 MARCO NA18507 nsv522323 2 119441621 119449418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695104 S 2026 0 1 MARCO nsv528763 2 119447658 119448512 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705425 S 2026 0 1 MARCO nsv527208 2 119447658 119454287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703608 S 2026 0 1 MARCO esv1616996 2 119547454 119547454 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605563 S 2 1 0 "" HuRef esv2294138 2 119610581 119611066 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740468 S 1 0 1 "" NA18507 esv991987 2 119610729 119610794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581992 S 3 0 1 "" HuRef esv1740003 2 119610860 119610926 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301270 S 2 0 1 "" HuRef nsv874957 2 119627631 119724455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538575 S 6533 0 1 C1QL2,STEAP3 MS13770 nsv874958 2 119627631 119731079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583099 S 6533 1 0 C1QL2,STEAP3 IS36248 nsv829637 2 119629529 119633360 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432678 S 31 1 0 C1QL2 NA18972 nsv519595 2 119686301 119717972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657003,nssv676863,nssv671397,nssv682881,nssv698311,nssv688553,nssv657719 M 2026 0 7 STEAP3 nsv874959 2 119702854 119728641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546495 S 6533 0 1 STEAP3 MS17208 esv1687873 2 119745514 119745514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297780 S 2 1 0 "" HuRef nsv441779 2 119762004 119766312 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv820159 2 119762233 119767107 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419665 S 2 0 1 "" AK1 dgv662n67 2 119762296 119766888 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829639,nsv829638 M 31 0 2 "" AK16,NA18592 nsv874960 2 119776391 119881491 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544051 S 6533 1 0 C2orf76,DBI MS16214 nsv508862 2 119818506 119870044 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618009 S 4 1 0 C2orf76,DBI CHM esv1954842 2 119871676 119872084 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857677 S 1 0 1 "" NA18507 nsv874961 2 119901539 119954768 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545793 S 6533 1 0 SCTR,TMEM37 MS16947 nsv874962 2 119937260 119988253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586379 S 6533 1 0 SCTR IS37766 nsv874963 2 119963956 120619637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544052 S 6533 1 0 EPB41L5,PCDP1,PTPN4,SCTR,TMEM177 MS16214 nsv874964 2 119971086 120025593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503317 S 6533 0 1 PCDP1,SCTR SP52035 esv2536402 2 119999130 120000057 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264233 S 1 1 0 "" NA18507 esv259717 2 119999191 119999731 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400241,essv2400042,essv2394768,essv2399093,essv2400253,essv2396564,essv2400877,essv2396024,essv2400569,essv2396268,essv2400753,essv2396674,essv2397971,essv2399609,essv2398262,essv2399206,essv2396967,essv2395265,essv2397654,essv2397800,essv2396590,essv2399236,essv2400635,essv2394969,essv2398568,essv2395013,essv2397448,essv2399348,essv2396140,essv2400721,essv2394959,essv2399891,essv2395525,essv2395038,essv2397853,essv2400148,essv2395738,essv2399941,essv2398427,essv2397901,essv2400680,essv2396216,essv2398177,essv2398352,essv2399308,essv2395215,essv2394802,essv2399795,essv2396350,essv2397990,essv2397082,essv2394514 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA10851,NA11829,NA11919,NA11993,NA12003,NA12043,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12892,NA18499,NA18502,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18542,NA18545,NA18561,NA18563,NA18571,NA18577,NA18608,NA18853,NA18856,NA18871,NA18907,NA18912,NA18944,NA18949,NA19093,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19239,NA19257 esv259570 2 119999196 119999704 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393847,essv2393995 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239 esv2556349 2 120025731 120027369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286166 S 1 0 1 PCDP1 NA18507 dgv4290n71 2 120115585 120191156 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv874965,nsv874966 M 6533 4 0 PCDP1,TMEM177 IS34185,IS35573,IS36612,IS39750 esv6882 2 120133633 120135062 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29323 S 1 0 1 "" SJK esv3307 2 120133639 120135054 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25748 S 1 0 1 Single Asian sample YH "" YH nsv213915 2 120134966 120134966 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232493 M 24 "" nsv874967 2 120147133 120241245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586380 S 6533 1 0 PTPN4,TMEM177 IS37766 esv2438719 2 120167717 120168659 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316344 S 1 1 0 "" NA18507 nsv512777 2 120167818 120167885 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625408 S 1 1 0 "" 1 nsv874968 2 120297012 120350838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500299 S 6533 0 1 PTPN4 SP50649 nsv834345 2 120428738 120612421 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442166 S 95 1 0 EPB41L5,PTPN4 nsv2893 2 120437948 120470877 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4450 S 9 1 0 PTPN4 NA12878 nsv834346 2 120606832 120778568 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442171,nssv1442186,nssv1442167,nssv1442170,nssv1442169,nssv1442168,nssv1442183,nssv1442176,nssv1442172,nssv1442187,nssv1442174,nssv1442175,nssv1442180,nssv1442182,nssv1442179,nssv1442178,nssv1442177,nssv1442181 M 95 18 0 EPB41L5,RALB,TMEM185B nsv524770 2 120611162 120619637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700761 S 2026 0 1 EPB41L5 nsv508164 2 120670090 120770270 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622816 S 4 0 1 RALB,TMEM185B NA18994 nsv2894 2 120768193 120813458 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5813 S 9 0 1 RALB NA19129 nsv528399 2 120787281 120797939 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704989 S 2026 1 0 "" nsv514975 2 120793800 120797336 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628477 S 1414 0 0 "" esv2067890 2 120794994 120795416 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710561 S 1 0 1 "" NA18507 nsv829640 2 120798322 120852350 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434948 S 31 0 1 INHBB NA18942 nsv874969 2 120806201 120824623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507882 S 6533 0 1 INHBB SP54657 nsv874970 2 120812390 120829351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505928,nssv1511326 M 6533 0 2 INHBB SP54043,SP55021 nsv829641 2 120817917 120822453 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432679 S 31 1 0 INHBB NA18972 nsv2895 2 120851224 120883879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5814 S 9 1 0 "" NA19129 esv22268 2 120853769 120857514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16063 S 451 0 3 "" NA12004,NA12749,NA12776 nsv874971 2 120861822 120930872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530455 S 6533 0 1 "" MS10311 esv2601258 2 120865223 120865706 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220781 S 1 1 0 "" NA18507 nsv507028 2 120882190 120888190 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620725 S 4 1 0 "" NA15510 nsv2896 2 120890859 120915219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4451 S 9 1 0 "" NA12878 nsv516891 2 120937543 120944647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656513,nssv654728,nssv680202 M 2026 0 3 LOC84931 nsv526169 2 120988119 120997073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702430 S 2026 0 1 "" nsv523024 2 121019710 121020253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698703 S 2026 1 0 "" nsv515554 2 121020253 121023152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691109,nssv660373,nssv660736,nssv690043,nssv655937,nssv665903,nssv671642,nssv682403,nssv679281,nssv654956,nssv691381,nssv665997,nssv660688,nssv679800,nssv655551,nssv673872,nssv663891,nssv659159,nssv664254 M 2026 0 19 "" nsv874972 2 121070128 121304366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546496 S 6533 0 1 GLI2 MS17208 nsv834348 2 121106056 121302168 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442188 S 95 1 0 GLI2 nsv459141 2 121161690 121192306 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535961 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01067 nsv213361 2 121162324 121167707 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231939 M 24 "" esv25297 2 121179964 121180575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12101 S 451 0 2 "" NA18916,NA19257 nsv215337 2 121197719 121197719 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233915 M 24 "" esv1153041 2 121197747 121197747 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122742 S 2 1 0 "" HuRef nsv829642 2 121205444 121226000 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428117 S 31 1 0 "" AK10 nsv874973 2 121223272 121278688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505076 S 6533 1 0 GLI2 SP53041 nsv834349 2 121240000 121441961 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442189,nssv1442190 M 95 0 2 GLI2 nsv2897 2 121318153 121367829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2290,nssv4452 M 9 2 0 GLI2 NA12878,NA18555 esv2067397 2 121360018 121360465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990625 S 1 0 1 GLI2 NA18507 esv28325 2 121411969 121413639 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11284 S 451 1 0 GLI2 NA19240 nsv834350 2 121437017 121633928 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442192,nssv1442191 M 95 0 2 GLI2 nsv511182 2 121513944 121514683 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626354 S 1 0 1 "" 1 esv27052 2 121513996 121515257 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16180 S 451 1 3 "" NA11995,NA12749,NA15510,NA18916 nsv821129 2 121513996 121515257 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420255 S 1 0 1 "" NA10851 nsv511808 2 121514075 121516122 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626460 S 1 0 1 "" 1 esv993087 2 121514189 121514771 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587199 S 3 1 0 "" HuRef nsv829643 2 121514189 121514771 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437307,nssv1436440,nssv1438030,nssv1433517,nssv1423227,nssv1435734,nssv1434949,nssv1428908,nssv1426489,nssv1440916,nssv1430433,nssv1422461 M 31 3 9 "" AK12,AK16,AK6,NA18526,NA18542,NA18552,NA18566,NA18942,NA18949,NA18951,NA18969,NA18999 nsv459152 2 121533322 121573378 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535972 S 1557 0 1 "" NINDS_259 esv2021842 2 121589952 121590365 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670857 S 1 0 1 "" NA18507 nsv874974 2 121635285 121763822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530456 S 6533 0 1 TFCP2L1 MS10311 esv272230 2 121654774 121655091 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580840 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv874975 2 121698078 121763822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546497 S 6533 0 1 TFCP2L1 MS17208 nsv525727 2 121724328 121733416 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701891 S 2026 1 0 TFCP2L1 esv2630030 2 121773155 121774999 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307728 S 1 0 1 "" NA18507 esv1006817 2 121773675 121774206 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586708 S 3 0 1 "" HuRef esv27582 2 121773675 121774643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15050,esv12637 M 451 0 8 "" NA18502,NA18508,NA18523,NA18858,NA18861,NA18909,NA18916,NA19190 esv2295512 2 121775223 121775644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928238 S 1 0 1 "" NA18507 esv997029 2 121775413 121775476 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577608 S 3 0 1 "" HuRef esv1650877 2 121775413 121775477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877854 S 2 0 1 "" HuRef esv268605 2 121801695 121802051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516709,essv2517819,essv2518991,essv2513777,essv2518251 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12878,NA19141,NA19143,NA19240 esv273397 2 121801695 121802051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581364,essv2581268 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv2898 2 121945278 121970723 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7546 S 9 0 1 CLASP1 NA12156 nsv874976 2 122035489 122093817 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592597 S 6533 1 0 CLASP1 IS39243 dgv1243e1 2 122038235 122198793 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3474,esv351 M 271 0 0 CLASP1,LOC254128 NA18992 nsv459163 2 122047945 122832476 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535983 S 1557 1 0 CLASP1,LOC254128,MKI67IP,TSN 1780862075_A esv27830 2 122084783 122086258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15441 S 451 0 1 CLASP1 NA12489 nsv834351 2 122134394 122365743 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442194,nssv1442193 M 95 0 2 LOC254128,MKI67IP,TSN esv2635353 2 122280361 122282037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258250 S 1 0 1 "" NA18507 esv2291058 2 122280659 122281363 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674331 S 1 0 1 "" NA18507 esv2063623 2 122340057 122340445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621836 S 1 0 1 "" NA18507 esv1004599 2 122340225 122340278 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575496 S 3 0 1 "" HuRef esv1543628 2 122340225 122340279 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954548 S 2 0 1 "" HuRef dgv4291n71 2 122364126 122571127 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874977,nsv874978 M 6533 0 2 "" IS34051,IS39881 esv8162 2 122420839 122420941 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30603 S 1 1 0 "" SJK nsv834352 2 122604033 122806211 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442195 S 95 0 1 "" esv1471810 2 122618831 122618831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024521 S 2 1 0 "" HuRef nsv874979 2 122682627 122850882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564441 S 6533 0 1 "" IS30211 dgv4292n71 2 122735016 122832476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874981,nsv874980 M 6533 0 3 "" MS10249,MS13490,MS14848 esv2480838 2 122747957 122750885 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370107 S 1 0 1 "" NA18507 esv2528097 2 122880300 122881821 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364655 S 1 0 1 "" NA18507 nsv874982 2 122892792 122926814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522266 S 6533 0 1 "" SP52872 esv268446 2 123047094 123047430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565828,essv2575899,essv2540806,essv2571566,essv2546549,essv2521385,essv2526029,essv2542264,essv2536494,essv2522730,essv2544135,essv2570824,essv2556469,essv2545577,essv2523223,essv2531772,essv2577225,essv2570607,essv2548533,essv2521676,essv2576743,essv2550737,essv2535438,essv2553941,essv2551983,essv2520456,essv2547544,essv2529295,essv2558598,essv2577947,essv2553547,essv2565517,essv2519993,essv2530863,essv2561980,essv2537474,essv2528216,essv2520880,essv2556967,essv2552528,essv2532366,essv2562737,essv2569404,essv2578824,essv2536977,essv2561344,essv2544631,essv2562823,essv2553030,essv2538450,essv2542743,essv2540611,essv2524426,essv2565018,essv2534941,essv2539525,essv2549233,essv2519576,essv2560019,essv2521933,essv2565906,essv2531245,essv2532618,essv2567708,essv2528979,essv2567598,essv2541757,essv2570277,essv2563839,essv2553247,essv2535649,essv2572307,essv2559308,essv2566923,essv2542060,essv2551082,essv2543461,essv2556168,essv2527851,essv2539258,essv2533854,essv2572992,essv2533624,essv2555492,essv2567186,essv2566431,essv2530053,essv2573864,essv2527673,essv2556039,essv2534228,essv2522365,essv2531374,essv2573537,essv2571864,essv2526871,essv2575715,essv2575017,essv2538778,essv2523993,essv2574703,essv2560209,essv2571142,essv2545906,essv2574344,essv2551588,essv2536318,essv2537798,essv2549090,essv2533092,essv2554377,essv2547663,essv2524886,essv2563452,essv2557848 M 157 115 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12815,NA12873,NA12874,NA12878,NA12891,NA18498,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18517,NA18523,NA18526,NA18532,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18912,NA18916,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18973,NA19005,NA19099,NA19102,NA19108,NA19129,NA19138,NA19190,NA19238,NA19239,NA19240,NA19257 esv273503 2 123047094 123047430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581666,essv2582651,essv2583894,essv2584748,essv2583625 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv24823 2 123080379 123081833 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13673 S 451 1 0 "" NA12776 esv3015 2 123081306 123081897 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25456 S 1 0 1 Single Asian sample YH "" YH nsv820953 2 123081343 123081792 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420256 S 1 0 1 "" NA10851 nsv829644 2 123081343 123081792 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431909,nssv1432680 M 31 2 0 "" AK20,NA18972 esv6987 2 123081349 123081902 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29428 S 1 0 1 "" SJK nsv507029 2 123160037 123166037 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623347,nssv622001,nssv620726,nssv617568 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv10138 2 123164160 123200369 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28733,nssv28095,nssv28395,nssv27392,nssv27519,nssv28747,nssv28137,nssv11573,nssv26713,nssv26854 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA12802,NA12872,NA18537,NA18552,NA18564,NA18853,NA18972 esv996348 2 123183062 123208948 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564318 S 3 0 0 "" HuRef nsv508165 2 123184195 123199226 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619040 S 4 0 1 "" NA10860 esv991963 2 123192440 123199961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563784 S 3 0 1 "" HuRef nsv442829 2 123192888 123198711 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421873 2 123192888 123198771 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033918,essv5075728,essv5032603,essv5020143,essv5122185,essv5133197,essv5082547,essv5017764,essv5018796,essv5070087,essv5140697,essv5059023,essv5103436,essv5016694,essv5016092,essv5094722,essv5010574,essv5137829,essv5159119,essv5086802,essv5110639,essv5028031,essv5161112,essv5112161,essv5016554,essv5049277,essv5103478,essv5058591,essv5076761,essv5140819,essv5033572,essv5148465,essv5090816,essv5157373,essv5033931,essv5017689,essv5070160,essv5097925,essv5098683,essv5064195,essv5079844,essv5128497,essv5019528,essv5137105,essv5156601,essv5142415,essv5078212,essv5003670,essv5105461,essv5091170,essv5137682,essv5143656,essv5045693,essv5034027,essv5139970,essv5066401,essv5040758,essv5053213,essv5059965,essv5143428,essv5083180,essv5064619,essv5121900,essv5105248,essv5042952,essv5122101,essv5095286,essv5133722,essv5067093,essv5014515,essv5049992,essv5021431,essv5007630,essv5018911,essv5081932,essv5147084,essv5032624,essv5147915,essv5130170,essv5117100,essv5096410,essv5150869,essv5148858,essv5114466,essv5104740,essv5120054,essv5120544,essv5017282,essv5158451,essv5153763,essv5128693,essv5156048,essv5079412,essv5146838,essv5117130,essv5102418,essv5089314,essv5155422,essv5147894,essv5072233,essv5072030,essv5074231,essv5109808,essv5158185,essv5114705,essv5105797,essv5141541,essv5125230,essv5138160,essv5012496,essv5128004,essv5061020,essv5152632,essv5147912,essv5054508,essv5082380,essv5040241,essv5067475,essv5127398,essv5152137,essv5071518,essv5100988,essv5065782,essv5081650,essv5087846,essv5021708,essv5007184,essv5058675,essv5134908,essv5090263,essv5021681,essv5075137,essv5024274,essv5133908,essv5075809,essv5112427,essv5087918,essv5037446,essv5081778,essv5103221,essv5094853,essv5097295,essv5068638,essv5098699,essv5011404,essv5003651,essv5012217,essv5054380,essv5003085,essv5116165,essv5112795,essv5067341,essv5013136,essv5020943,essv5092403,essv5076825,essv5046876,essv5076740,essv5118446,essv5084613,essv5115057,essv5087123,essv5056768,essv5060147,essv5037916,essv5026268,essv5105255,essv5056791,essv5049177,essv5156213,essv5038837,essv5112214,essv5130836,essv5153792,essv5144011,essv5115039,essv5144896,essv5048648,essv5089232,essv5008250,essv5125606,essv5069435,essv5126422,essv5062988,essv5115296,essv5048443,essv5067921,essv5017985,essv5142194,essv5081091,essv5147009,essv5153320,essv5003487,essv5051774,essv5076352,essv5002850,essv5147316,essv5138073,essv5107024,essv5067035,essv5051829,essv5034563,essv5115116,essv5044093,essv5032055,essv5123169,essv5141417,essv5157428,essv5077739,essv5027987,essv5077028,essv5091555,essv5147483,essv5104379,essv5152964,essv5040978,essv5120148,essv5089428,essv5065184,essv5151350,essv5076677,essv5031051,essv5141873,essv5072272,essv5105007,essv5142556,essv5100998,essv5123189,essv5038427,essv5104940,essv5101704,essv5115324,essv5041308,essv5012710,essv5027910,essv5156075,essv5011837,essv5140862,essv5153811,essv5111325,essv5121937,essv5130338,essv5051914,essv5102106,essv5078303,essv5036215,essv5144378,essv5096135,essv5047906,essv5013245,essv5093504,essv5068122,essv5125845,essv5100043,essv5027257,essv5067240,essv5146837,essv5078191,essv5082688,essv5095033,essv5088481,essv5030415,essv5148379,essv5085879,essv5053566,essv5141068,essv5049466,essv5099439,essv5014167,essv5021176,essv5105094,essv5053982,essv5059115,essv5155316,essv5053290,essv5031242,essv5022510,essv5037978,essv5152387,essv5132725,essv5094108,essv5065235,essv5141262,essv5098268,essv5080866,essv5064396,essv5074316,essv5015640,essv5039034,essv5086556,essv5145822,essv5051828,essv5141860,essv5110421,essv5141526,essv5013405,essv5132667,essv5040866,essv5037806,essv5074522,essv5008176,essv5019985,essv5121249,essv5063459,essv5071285,essv5069038,essv5050679,essv5158846,essv5102546,essv5021312,essv5079254,essv5085188,essv5003002,essv5102213,essv5007690,essv5119298,essv5077624,essv5084285,essv5045349,essv5106541,essv5065088,essv5116102,essv5014904,essv5091583,essv5005344,essv5002742,essv5003044,essv5053230,essv5078183,essv5062565,essv5145978,essv5096421,essv5049975,essv5093703,essv5147677,essv5013132,essv5064631 M 1184 0 337 "" NA06995,NA07031,NA07037,NA10839,NA10840,NA10847,NA10850,NA10852,NA10856,NA10861,NA11830,NA11992,NA11994,NA12006,NA12146,NA12234,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12342,NA12348,NA12383,NA12708,NA12749,NA12752,NA12753,NA12761,NA12762,NA12763,NA12802,NA12815,NA12818,NA12827,NA12830,NA12872,NA12874,NA12878,NA12891,NA17966,NA17967,NA17969,NA17970,NA17972,NA17976,NA17977,NA17981,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17997,NA17998,NA17999,NA18101,NA18105,NA18106,NA18107,NA18108,NA18109,NA18114,NA18117,NA18118,NA18120,NA18124,NA18127,NA18128,NA18129,NA18132,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18146,NA18147,NA18149,NA18151,NA18153,NA18155,NA18160,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18520,NA18524,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18545,NA18546,NA18548,NA18552,NA18557,NA18558,NA18559,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18594,NA18595,NA18596,NA18599,NA18602,NA18603,NA18609,NA18610,NA18613,NA18614,NA18616,NA18617,NA18618,NA18619,NA18622,NA18624,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18642,NA18643,NA18670,NA18674,NA18696,NA18702,NA18704,NA18748,NA18757,NA18852,NA18853,NA18854,NA18868,NA18873,NA18875,NA18944,NA18946,NA18949,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18961,NA18962,NA18965,NA18966,NA18967,NA18971,NA18972,NA18977,NA18987,NA18991,NA18993,NA18997,NA19000,NA19005,NA19010,NA19027,NA19055,NA19057,NA19060,NA19062,NA19063,NA19065,NA19068,NA19070,NA19072,NA19074,NA19079,NA19081,NA19084,NA19085,NA19088,NA19102,NA19103,NA19143,NA19150,NA19151,NA19153,NA19236,NA19310,NA19311,NA19313,NA19321,NA19334,NA19359,NA19371,NA19375,NA19377,NA19384,NA19403,NA19463,NA19471,NA19472,NA19625,NA19652,NA19653,NA19663,NA19669,NA19671,NA19676,NA19750,NA19751,NA19756,NA19759,NA19761,NA19762,NA19763,NA19771,NA19772,NA19773,NA19795,NA19908,NA19916,NA19918,NA19919,NA20276,NA20335,NA20341,NA20502,NA20504,NA20525,NA20530,NA20539,NA20542,NA20758,NA20759,NA20765,NA20768,NA20770,NA20778,NA20792,NA20803,NA20805,NA20812,NA20813,NA20815,NA20818,NA20828,NA20846,NA20856,NA20858,NA20862,NA20866,NA20875,NA20879,NA20882,NA20890,NA20895,NA20898,NA20900,NA20901,NA21090,NA21094,NA21106,NA21107,NA21108,NA21111,NA21116,NA21119,NA21123,NA21137,NA21301,NA21302,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21333,NA21344,NA21352,NA21364,NA21381,NA21383,NA21388,NA21389,NA21391,NA21420,NA21434,NA21440,NA21457,NA21476,NA21477,NA21479,NA21480,NA21489,NA21490,NA21510,NA21512,NA21524,NA21526,NA21527,NA21582,NA21583,NA21600,NA21601,NA21615,NA21631,NA21634,NA21647,NA21648,NA21650,NA21685,NA21693,NA21722,NA21723,NA21739,NA21740,NA21776,NA21784,NA21825 esv5010 2 123193059 123199085 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27451 S 1 0 1 Single Asian sample YH "" YH esv6848 2 123193244 123198974 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29289 S 1 0 0 "" SJK dgv663n67 2 123193356 123198999 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829645,nsv829646 M 31 0 13 "" AK10,AK12,AK6,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18949,NA18951,NA18997 nsv819692 2 123193377 123199027 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419727 S 2 0 1 "" AK1 esv28308 2 123193761 123198939 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15936,esv18223 M 451 0 5 "" NA07037,NA12006,NA12287,NA12749,NA12878 dgv87e180 2 123193830 123198999 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999224,esv1008226 M 3 0 1 "" HuRef nsv514088 2 123194032 123199008 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627064 S 1414 0 1 "" nsv438368 2 123197294 123198771 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471095,nssv471098,nssv471093,nssv471094,nssv471088,nssv471096,nssv471092,nssv471089,nssv471099,nssv471097 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA18537,NA18540,NA18545,NA18558,NA18577,NA18594,NA18633,NA18635,NA18971,NA19000 nsv527471 2 123197294 123206695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703914 S 2026 0 1 "" esv268264 2 123236605 123236716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544102,essv2578035,essv2565380,essv2551885,essv2550029,essv2537068,essv2567832,essv2569183,essv2527456,essv2573277,essv2529509,essv2530235,essv2560171 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12761,NA12812,NA18504,NA18511,NA18517,NA18577,NA18861,NA18952,NA18969,NA19093,NA19141,NA19190 nsv874983 2 123242858 123373397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557860 S 6533 0 1 "" MS22959 nsv874984 2 123281397 123349725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552120,nssv1565505 M 6533 0 2 "" IS30435,MS19226 esv269061 2 123281766 123281963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512856 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18609 esv1733698 2 123333391 123333462 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589309 S 2 0 1 "" HuRef nsv517668 2 123396727 123479782 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655305,nssv652770,nssv669453 M 2026 0 3 "" nsv821700 2 123499656 123500580 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421551 S 31 1 0 "" NA18997 nsv821701 2 123499729 123500374 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423228 S 31 1 0 "" NA18999 nsv524501 2 123557229 123565952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700443 S 2026 0 1 "" esv275321 2 123597674 123607271 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585738 S 1250 0 1 "" esv1927566 2 123607453 123607951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975420 S 1 0 1 "" NA18507 esv267958 2 123619687 123620043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512630,essv2510558,essv2493620,essv2495495,essv2498766,essv2497005 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18517,NA18916,NA19138,NA19190 esv9612 2 123620056 123620144 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32053 S 1 1 0 "" SJK esv271392 2 123646844 123647170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500002,essv2504501,essv2507873,essv2500687,essv2508216,essv2505723,essv2509136,essv2505593 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18558,NA18563,NA18564,NA18571,NA18579,NA18861,NA18909,NA19005 nsv525131 2 123652687 123675359 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701199 S 2026 1 0 "" nsv524990 2 123670988 123681352 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701019 S 2026 1 0 "" esv1612133 2 123700230 123700230 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851913 S 2 1 0 "" HuRef esv2454279 2 123704975 123706337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359149 S 1 0 1 "" NA18507 esv2265627 2 123705409 123706142 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570432 S 1 0 1 "" NA18507 esv2495319 2 123705605 123705934 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177245 S 1 0 1 "" NA18507 esv2607630 2 123707411 123710082 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226947 S 1 0 1 "" NA18507 esv271334 2 123771368 123771703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558147,essv2565733,essv2575824,essv2540990,essv2571842,essv2546356,essv2521124,essv2536614,essv2543843,essv2571086,essv2577493,essv2548232,essv2550318,essv2544312,essv2547619,essv2529352,essv2564424,essv2553839,essv2559410,essv2565474,essv2520059,essv2561976,essv2539936,essv2520924,essv2556854,essv2569259,essv2549976,essv2538897,essv2523758,essv2541362,essv2561022,essv2519649,essv2563759,essv2572507,essv2533486,essv2522355,essv2530291,essv2572844,essv2560484,essv2549083,essv2524887 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11920,NA11992,NA11993,NA12043,NA12045,NA12234,NA12414,NA12717,NA12749,NA12751,NA12763,NA12776,NA12812,NA12815,NA12874,NA18489,NA18498,NA18501,NA18508,NA18511,NA18519,NA18537,NA18545,NA18562,NA18566,NA18603,NA18609,NA18944,NA18960,NA19141,NA19143,NA19190 nsv215328 2 123771399 123771399 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233906 M 24 "" nsv834353 2 123773773 123951636 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442197 S 95 0 1 "" nsv214668 2 123790747 123790806 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233246 M 24 "" esv2508446 2 123829920 123832666 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343206 S 1 0 1 "" NA18507 esv1016793 2 123830749 123830749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098220 S 2 1 0 "" HuRef esv1189112 2 123831116 123831116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899475 S 2 1 0 "" HuRef esv25449 2 123871250 123871884 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17613 S 451 1 0 "" NA18508 nsv213476 2 123876224 123876295 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232054 M 24 "" esv2509298 2 123885994 123887441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380451 S 1 0 1 "" NA18507 esv2166407 2 123886539 123887231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737211 S 1 0 1 "" NA18507 esv9409 2 123886724 123887066 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31850 S 1 0 1 "" SJK nsv874985 2 123912542 123958997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504031 S 6533 0 1 "" SP52165 nsv508104 2 123948933 123954933 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618548,nssv621531,nssv622354,nssv624279 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv2900 2 123968868 124003039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7547 S 9 1 0 "" NA12156 nsv459196 2 124001582 124037456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536014 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00738 nsv2901 2 124011506 124043086 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10234 S 9 1 0 "" NA18956 nsv521983 2 124046790 124052882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694751 S 2026 0 1 "" nsv834354 2 124104527 124149258 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442198 S 95 0 1 "" nsv874986 2 124125614 124242792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587307 S 6533 0 1 "" IS38008 nsv512778 2 124156269 124156726 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625409 S 1 1 0 "" 1 esv1000382 2 124156684 124161559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564547 S 3 1 0 "" HuRef esv1197147 2 124159291 124159410 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052114 S 2 0 1 "" HuRef esv260067 2 124307296 124308104 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400643,essv2395172 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA19108 nsv874987 2 124387719 124456245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554041 S 6533 1 0 "" MS20550 nsv874988 2 124392839 124456245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524886 S 6533 0 1 "" SP55353 nsv518827 2 124413470 124432897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696280 S 2026 0 1 "" esv2514577 2 124559683 124562678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224803 S 1 0 1 CNTNAP5 NA18507 esv2413609 2 124560099 124562063 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895415 S 1 0 1 CNTNAP5 NA18507 esv28944 2 124560185 124561907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11742 S 451 0 1 CNTNAP5 NA18858 nsv874989 2 124609062 124892500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559124 S 6533 0 1 CNTNAP5 MS23720 esv271612 2 124650221 124650306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515747 S 157 1 0 Samples from several populations that are part of the HapMap project. CNTNAP5 NA12815 esv21989 2 124753109 124753699 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9969 S 451 0 1 CNTNAP5 NA12004 nsv874990 2 124755148 124816394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560147 S 6533 0 1 CNTNAP5 MS24343 nsv513642 2 124769420 124770899 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626894 S 1 0 0 CNTNAP5 1 nsv523624 2 124816394 124829445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699421 S 2026 0 1 CNTNAP5 nsv523244 2 124844266 124847880 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698973 S 2026 1 0 CNTNAP5 dgv62n68 2 124845055 125031888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834355,nsv834356 M 95 2 0 CNTNAP5 nsv2902 2 124851707 124881481 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3026 S 9 1 0 CNTNAP5 NA18555 nsv518449 2 124852059 124859192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695887 S 2026 0 1 CNTNAP5 nsv214662 2 124905580 124905580 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233240 M 24 CNTNAP5 nsv834357 2 124974627 125137977 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442201 S 95 1 0 CNTNAP5 esv1132457 2 124984359 124984359 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298799 S 2 1 0 CNTNAP5 HuRef esv1651761 2 124991259 124991864 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031031 S 2 0 1 CNTNAP5 HuRef nsv520468 2 125007309 125007504 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697439 S 2026 0 1 CNTNAP5 esv25452 2 125016146 125016947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12584 S 451 0 1 CNTNAP5 NA19190 nsv819837 2 125034887 125036952 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419376 S 2 1 0 CNTNAP5 AK1 nsv528674 2 125062807 125099992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705313 S 2026 0 1 CNTNAP5 nsv834359 2 125084342 125252492 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442202 S 95 1 0 CNTNAP5 esv2401454 2 125127509 125127912 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984552 S 1 0 1 CNTNAP5 NA18507 esv2152580 2 125144477 125144911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619732 S 1 0 1 CNTNAP5 NA18507 esv1751956 2 125144698 125144758 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765531 S 2 0 1 CNTNAP5 HuRef nsv214838 2 125144699 125144758 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233416 M 24 CNTNAP5 esv259825 2 125178449 125181661 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395289 S 144 0 0 Samples from several populations that are part of the HapMap project. CNTNAP5 NA11918 esv272158 2 125188931 125189016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581483 S 7 1 0 Samples from several populations that are part of the HapMap project. CNTNAP5 NA12878 nsv834360 2 125209155 125399670 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442203 S 95 1 0 CNTNAP5 esv271000 2 125233536 125233643 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506253,essv2501019,essv2513302,essv2509336,essv2504841 M 157 5 0 Samples from several populations that are part of the HapMap project. CNTNAP5 NA18523,NA18856,NA18907,NA18909,NA19099 esv1473492 2 125286116 125286116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880616 S 2 1 0 CNTNAP5 HuRef esv1460286 2 125287557 125287557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903706 S 2 1 0 CNTNAP5 HuRef nsv834361 2 125317551 125527462 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442204 S 95 1 0 CNTNAP5 esv27405 2 125355809 125361479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13274 S 451 0 2 CNTNAP5 NA12006,NA19108 nsv441780 2 125368402 125374828 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CNTNAP5 esv2421661 2 125368402 125374832 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5094536,essv5053113,essv5010650,essv5009466,essv5144271,essv5030047,essv5121131,essv5052150,essv5061698,essv5123798,essv5147837,essv5141471,essv5051152,essv5026995,essv5135470,essv5006583,essv5094612,essv5102286,essv5024227,essv5158972,essv5041996,essv5086695,essv5079110,essv5120638,essv5024992,essv5062349,essv5096165,essv5138775,essv5080075,essv5065082,essv5105967,essv5115740 M 1184 0 32 CNTNAP5 NA18873,NA18910,NA19118,NA19137,NA19139,NA19146,NA19153,NA19176,NA19204,NA19207,NA19373,NA19374,NA19391,NA19396,NA19399,NA19471,NA19472,NA19712,NA19762,NA19914,NA19915,NA19917,NA19918,NA20126,NA20128,NA20297,NA20322,NA20342,NA20346,NA21582,NA21611,NA21723 nsv514089 2 125368944 125374632 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627075 S 1414 0 1 CNTNAP5 esv9662 2 125397214 125397298 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32103 S 1 1 0 "" SJK nsv874991 2 125408960 125618281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558168 S 6533 0 1 "" MS23145 nsv834362 2 125450391 125623921 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442205 S 95 1 0 "" esv2584261 2 125482116 125484800 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392926 S 1 0 1 "" NA18507 esv5163 2 125482991 125484763 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27604 S 1 0 1 Single Asian sample YH "" YH esv1319285 2 125483031 125483031 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875522 S 2 1 0 "" HuRef esv5825 2 125483061 125484717 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28266 S 1 0 1 "" SJK nsv874992 2 125534152 125762891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521036 S 6533 0 1 "" SP51388 esv2370400 2 125580249 125580672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969613 S 1 0 1 "" NA18507 nsv213657 2 125580518 125580583 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232235 M 24 "" nsv2903 2 125607937 125652737 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7548 S 9 0 1 "" NA12156 esv269419 2 125767535 125767652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494251,essv2504036,essv2509795,essv2493660,essv2498632,essv2493951,essv2507337,essv2495655,essv2504638,essv2506685,essv2512051,essv2501891,essv2498212 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18508,NA18517,NA18858,NA18871,NA18912,NA18916,NA19099,NA19108,NA19238,NA19239,NA19240 esv273117 2 125767546 125767874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584124,essv2584601,essv2583855 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv26766 2 125824832 125827488 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14536 S 451 0 1 "" NA18523 esv273049 2 125845185 125845449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581024,essv2579596 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267627 2 125845194 125845494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493767,essv2509113,essv2499918,essv2510015,essv2501564,essv2495101,essv2505646,essv2506944,essv2510486,essv2511971,essv2511570,essv2499499 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA18517,NA18522,NA18562,NA18593,NA18608,NA18964,NA19005,NA19102,NA19172,NA19238 esv2751825 2 125909667 126158484 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986301,essv6986302,essv6982892,essv6982891,essv6982890 M 771 1 0 "" BEC_608 nsv214381 2 125953495 125953557 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232959 M 24 "" nsv523564 2 125955521 125967053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699345 S 2026 0 1 "" nsv433221 2 125967053 125977212 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463102 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 esv270540 2 126006403 126006715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502957,essv2513498,essv2506938,essv2509585,essv2498689,essv2497056 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18907,NA19102,NA19129,NA19138,NA19190 esv1007747 2 126083372 126087129 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564351 S 3 0 1 "" HuRef dgv26n50 2 126084060 126087341 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511180,nsv511809 M 1 0 1 "" 1 esv24206 2 126084727 126086746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12526 S 451 0 2 "" NA07045,NA12239 dgv88e180 2 126084852 126086653 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991636,esv1009589 M 3 0 1 "" HuRef nsv526487 2 126084869 126086705 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702796 S 2026 0 1 "" esv273974 2 126087152 126087521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578865 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270323 2 126087166 126087500 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565866,essv2576060,essv2540900,essv2546292,essv2536523,essv2523051,essv2556658,essv2568220,essv2545653,essv2577372,essv2521565,essv2550757,essv2525346,essv2535383,essv2554217,essv2520509,essv2558398,essv2577699,essv2553781,essv2565429,essv2576266,essv2555176,essv2537269,essv2528280,essv2546796,essv2540076,essv2557328,essv2557174,essv2551898,essv2561418,essv2523707,essv2541322,essv2542663,essv2564816,essv2549486,essv2532789,essv2528911,essv2570009,essv2535621,essv2543641,essv2578439,essv2557638,essv2573612,essv2526880,essv2529432,essv2538784,essv2526726,essv2523982,essv2551591,essv2537794,essv2548790,essv2533307,essv2554560,essv2524922 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07357,NA11829,NA11830,NA11831,NA11881,NA11920,NA11931,NA11994,NA11995,NA12003,NA12043,NA12144,NA12155,NA12156,NA12249,NA12287,NA12716,NA12750,NA12761,NA12763,NA12812,NA12814,NA12872,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18504,NA18523,NA18537,NA18545,NA18550,NA18558,NA18564,NA18576,NA18579,NA18593,NA18608,NA18870,NA18940,NA18953,NA18964,NA19005,NA19093,NA19108,NA19114,NA19129,NA19257 esv23934 2 126094787 126102434 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19800,esv20400 M 451 9 0 "" NA06985,NA11995,NA12489,NA18502,NA18505,NA18916,NA19129,NA19147,NA19190 nsv821407 2 126094787 126102434 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420257 S 1 0 1 "" NA10851 esv22165 2 126110007 126110577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14056 S 451 0 1 "" NA12828 nsv2904 2 126144577 126183807 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1534,nssv6867,nssv9862,nssv9351,nssv10235,nssv11020,nssv5815 M 9 0 7 "" NA12156,NA15510,NA18507,NA18517,NA18956,NA19129,NA19240 nsv224 2 126156134 126178227 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv224 S 1 0 1 "" NA15510 nsv10140 2 126157076 126168891 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28206,nssv29231,nssv28511,nssv28854,nssv28502,nssv27018,nssv28187,nssv27035,nssv28785,nssv28758,nssv28139,nssv28702,nssv26868,nssv28014,nssv11700,nssv28670,nssv28403,nssv28481,nssv28145,nssv28666,nssv26853,nssv28865,nssv28435,nssv27997,nssv28771,nssv28760,nssv27918,nssv11603 M 31 0 28 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv1006513 2 126159015 126169821 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564610 S 3 0 1 "" HuRef esv2505990 2 126159022 126168871 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276320 S 1 0 1 "" NA18507 dgv65n16 2 126159094 126168875 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436290,nsv435712 M 2 0 2 "" NA15510,NA18505 esv2649456 2 126159196 126169722 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199172 S 1 0 1 "" NA18507 nsv511810 2 126159427 126168352 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626462 S 1 0 1 "" 1 esv1949193 2 126159556 126168490 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646848 S 1 0 1 "" NA18507 esv22473 2 126159644 126168438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20944 S 451 0 38 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv4449 2 126159692 126168408 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26890 S 1 0 1 Single Asian sample YH "" YH dgv32n47 2 126159717 126168306 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498932,nsv498933 M 9 0 2 "" nsv213347 2 126159718 126168301 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231925 M 24 "" esv7924 2 126159722 126168306 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30365 S 1 0 1 "" SJK nsv818999 2 126159725 126168377 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419874 S 2 0 1 "" AK1 dgv664n67 2 126160360 126168354 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821703,nsv821702 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514090 2 126160560 126168320 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627086 S 1414 0 1 "" nsv508166 2 126165411 126174196 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617462,nssv620190,nssv622817,nssv619041 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1623363 2 126208901 126208901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267698 S 2 1 0 "" HuRef esv7682 2 126226196 126227067 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30123 S 1 0 1 "" SJK nsv507030 2 126351365 126357365 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623348,nssv622002,nssv620728,nssv617569 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv267680 2 126358074 126358159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519239,essv2517485,essv2515052,essv2518150,essv2517755 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12812,NA12872,NA12878 esv274614 2 126358074 126358159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581399 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2508517 2 126365240 126370416 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359656 S 1 0 1 "" NA18507 esv1616302 2 126366331 126367187 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949289 S 2 0 1 "" HuRef esv1211997 2 126367544 126367630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615667 S 2 0 1 "" HuRef nsv834363 2 126412915 126604329 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442206,nssv1442208 M 95 2 0 "" nsv2905 2 126436815 126469579 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4453 S 9 1 0 "" NA12878 nsv508167 2 126484240 126490707 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619042 S 4 0 1 "" NA10860 nsv874993 2 126486008 126574674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559627 S 6533 0 1 "" MS24073 dgv4293n71 2 126510873 126773004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv874997,nsv874994,nsv874995,nsv874996 M 6533 0 11 "" IS34970,IS35783,IS39517,IS40343,MS13735,MS17562,MS18902,MS19023,MS19638,MS21071,MS24769 nsv874998 2 126634117 126892055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517368 S 6533 0 1 "" SP57268 nsv507031 2 126682858 126688858 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622003 S 4 1 0 "" NA10860 esv22018 2 126718754 126720361 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18958,esv16111 M 451 6 0 "" NA11894,NA12044,NA18909,NA19114,NA19147,NA19190 dgv1244e1 2 126749487 126877564 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2979,essv14516,essv9176,essv17594,essv16721,essv4706,essv15850,esv425,essv23343,essv10636,essv16260 M 271 0 0 "" NA12750,NA12762,NA18622,NA18855,NA18981,NA19128,NA19142,NA19161,NA19202,NA19223 nsv215503 2 126750799 126750799 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234081 M 24 "" nsv2906 2 126783429 126805177 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9352,nssv6868 M 9 2 0 "" NA12156,NA18517 nsv874999 2 126784610 126935385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566928 S 6533 0 1 "" IS31000 nsv508863 2 126784864 126793594 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619916 S 4 1 0 "" NA10860 nsv834364 2 126817222 126983540 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442210,nssv1442209 M 95 1 1 "" nsv10141 2 126839108 126840940 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28815 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 dgv4294n71 2 127119303 127147782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875001,nsv875000 M 6533 0 2 GYPC SP51307,SP57973 dgv4295n71 2 127128483 127136681 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875004,nsv875003,nsv875002 M 6533 0 3 GYPC SP54657,SP56861,SP80957 nsv875005 2 127131131 127139536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499687,nssv1501398 M 6533 0 2 GYPC SP50159,SP51058 nsv875006 2 127134929 127139536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499652 S 6533 0 1 GYPC SP50117 nsv875007 2 127143167 127170700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541891 S 6533 0 1 GYPC MS15528 nsv875008 2 127143224 127152939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508325 S 6533 1 0 GYPC SP54650 esv2429496 2 127163311 127167913 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192410 S 1 0 1 GYPC NA18507 dgv4296n71 2 127163863 127169234 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875010,nsv875009 M 6533 0 2 GYPC SP53349,SP54627 esv27153 2 127243948 127244428 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14028 S 451 1 0 "" NA11993 nsv821704 2 127245611 127246245 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434268 S 31 1 0 "" NA18570 dgv63n68 2 127333466 127510333 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv834366,nsv834365 M 95 0 2 "" nsv2907 2 127386002 127425791 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2291 S 9 0 1 "" NA18555 esv987978 2 127387651 127393870 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563588 S 3 0 1 "" HuRef nsv511179 2 127389997 127395718 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626321 S 1 0 1 "" 1 nsv821705 2 127391023 127391749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439545 S 31 0 1 "" NA18537 nsv821706 2 127391023 127394568 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424441,nssv1428121,nssv1438033,nssv1433521,nssv1438507,nssv1438962,nssv1440919,nssv1424842,nssv1423231,nssv1435737,nssv1424834,nssv1440222,nssv1426492,nssv1434951,nssv1422465,nssv1432682,nssv1434269,nssv1424050,nssv1436444 M 31 0 19 "" AK10,AK2,AK6,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18999 nsv511811 2 127391168 127393776 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626463 S 1 0 1 "" 1 esv4755 2 127391183 127393897 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27196 S 1 0 1 Single Asian sample YH "" YH esv8573 2 127391223 127393739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31014 S 1 0 1 "" SJK esv25712 2 127391228 127393742 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13249 S 451 25 0 "" NA06985,NA11894,NA11931,NA11995,NA12287,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821460 2 127391228 127393742 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420259 S 1 0 1 "" NA10851 esv1779322 2 127391228 127393744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932012 S 2 0 1 "" HuRef nsv2908 2 127395387 127427463 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2292 S 9 1 0 "" NA18555 nsv528979 2 127431350 127441080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705678 S 2026 0 1 "" esv1000403 2 127433316 127441853 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565206 S 3 0 1 "" HuRef esv29884 2 127433919 127438770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18727 S 451 0 1 "" NA11993 esv990429 2 127433919 127441255 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586323 S 3 0 1 "" HuRef nsv511177 2 127434351 127440454 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626299 S 1 0 1 "" 1 nsv511812 2 127435325 127438882 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626464 S 1 0 1 "" 1 nsv2909 2 127437350 127442530 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7549 S 9 1 0 "" NA12156 esv1002093 2 127441334 127441794 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586053 S 3 1 0 "" HuRef esv21943 2 127441334 127441794 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11925 S 451 4 0 "" NA18505,NA18508,NA19147,NA19190 nsv516759 2 127513136 127575911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674777,nssv698704,nssv670652,nssv685642,nssv654919,nssv685205,nssv690241,nssv691455 M 2026 0 8 BIN1 dgv4297n71 2 127517451 127612043 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875011,nsv875012 M 6533 0 2 BIN1 MS10311,MS17208 nsv2911 2 127532108 127565738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1535 S 9 1 0 BIN1 NA19240 dgv1245e1 2 127547413 127722984 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv153,essv14488,essv9742,essv16027 M 271 0 0 BIN1,CYP27C1 NA18501,NA18913,NA19202 nsv10142 2 127572234 127575747 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28895 S 31 1 0 Samples from several populations that are part of the HapMap project. BIN1 NA12155 nsv821707 2 127638391 127638890 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434270 S 31 1 0 "" NA18570 nsv875013 2 127894444 127899615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508783 S 6533 0 1 MIR4783,PROC SP54725 nsv875014 2 127894885 128044845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556726 S 6533 0 1 IWS1,MIR4783,MYO7B,PROC MS22146 nsv519035 2 127911714 127926870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696503 S 2026 0 1 "" nsv524607 2 127912894 127934834 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700568 S 2026 1 0 "" esv22879 2 127940163 127942305 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11314 S 451 0 2 "" NA18523,NA19114 nsv516410 2 127940345 127941698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693664,nssv688264,nssv668176,nssv680147,nssv684716,nssv684052,nssv689756,nssv675172,nssv674473,nssv692939,nssv659296 M 2026 0 11 "" nsv2912 2 127997622 128024300 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7550,nssv4654 M 9 0 2 IWS1,MYO7B NA12156,NA19129 esv268170 2 128007437 128007522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514530 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv875015 2 128021666 128212115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530458 S 6533 0 1 GPR17,LIMS2,MYO7B,SFT2D3,WDR33 MS10311 dgv4298n71 2 128046928 128124640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875016,nsv875019 M 6533 0 3 GPR17,LIMS2,MYO7B IS35007,MS11237,MS13095 dgv4299n71 2 128046928 128182017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875020,nsv875021,nsv875017,nsv875018 M 6533 0 4 GPR17,LIMS2,MYO7B,SFT2D3,WDR33 IS33684,IS38840,MS13770,MS16153 nsv518085 2 128050883 128121330 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695499 S 2026 0 1 GPR17,LIMS2,MYO7B nsv508864 2 128059936 128158702 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619289 S 4 1 0 GPR17,LIMS2,MYO7B NA10860 nsv470482 2 128067278 128182017 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547244,nssv547247,nssv547248 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR17,LIMS2,MYO7B,SFT2D3,WDR33 HGDP00288,HGDP00290,HGDP00313 dgv4300n71 2 128095033 128125889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875025,nsv875024,nsv875022,nsv875023 M 6533 0 8 GPR17,LIMS2,MYO7B IS32737,IS32841,IS36876,IS39233,IS40230,IS40799,MS10123,MS16315 nsv875026 2 128095033 128162055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532366,nssv1584769 M 6533 0 2 GPR17,LIMS2,MYO7B IS37172,MS10769 nsv517532 2 128104407 128121330 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696373,nssv687153,nssv678435,nssv652932,nssv659427,nssv661517,nssv682230,nssv677696,nssv661841,nssv683284,nssv671056,nssv656888,nssv669115,nssv652285,nssv663443 M 2026 0 15 GPR17,LIMS2,MYO7B nsv875027 2 128104407 128124640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580809 S 6533 0 1 GPR17,LIMS2,MYO7B IS35484 nsv875028 2 128104407 128162055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548276 S 6533 1 0 GPR17,LIMS2,MYO7B MS17785 dgv4301n71 2 128111968 128182017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875029,nsv875032 M 6533 0 3 GPR17,LIMS2,SFT2D3,WDR33 MS11726,SP54956,SP55021 nsv875030 2 128115884 128212115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546499 S 6533 0 1 GPR17,LIMS2,SFT2D3,WDR33 MS17208 nsv875031 2 128117561 128162055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549619 S 6533 0 1 GPR17,LIMS2 MS18276 nsv875033 2 128154831 128181737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518119 S 6533 0 1 LIMS2,SFT2D3,WDR33 SP57469 esv26495 2 128268585 128271240 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12368 S 451 0 1 WDR33 NA18508 nsv834367 2 128347261 128506542 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442213 S 95 0 1 AMMECR1L,SAP130 esv268180 2 128355345 128355643 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542246,essv2536698,essv2544141,essv2523337,essv2570434,essv2548175,essv2551968,essv2529407,essv2558483,essv2564726,essv2578045,essv2553746,essv2520002,essv2537518,essv2546725,essv2544680,essv2563005,essv2523841,essv2524357,essv2564965,essv2561274,essv2549488,essv2565947,essv2567926,essv2541491,essv2563936,essv2553186,essv2573222,essv2533777,essv2555733,essv2534334,essv2573554,essv2572031,essv2526999,essv2533302,essv2547776 M 157 36 0 Samples from several populations that are part of the HapMap project. AMMECR1L NA07051,NA07347,NA11919,NA11920,NA11992,NA12004,NA12044,NA12045,NA12489,NA12749,NA12750,NA12751,NA12761,NA12763,NA12815,NA12878,NA12892,NA18526,NA18532,NA18537,NA18555,NA18558,NA18562,NA18564,NA18572,NA18577,NA18592,NA18603,NA18605,NA18942,NA18944,NA18945,NA18959,NA18964,NA18973,NA19005 esv272652 2 128355346 128355673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581867,essv2582936 M 7 2 0 Samples from several populations that are part of the HapMap project. AMMECR1L NA12878,NA12892 nsv508865 2 128363012 128445838 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619290 S 4 1 0 SAP130 NA10860 esv2570744 2 128365705 128366532 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346488 S 1 1 0 "" NA18507 esv4100 2 128453453 128453721 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26541 S 1 0 1 Single Asian sample YH SAP130 YH esv1357413 2 128453548 128453637 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039727 S 2 0 1 SAP130 HuRef esv268046 2 128512356 128512441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518976 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv2617804 2 128537402 128544236 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309507 S 1 0 1 "" NA18507 esv2421609 2 128538342 128543406 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5040059,essv5116628,essv5152870,essv5126569,essv5079519,essv5095796,essv5040923,essv5008870,essv5134874,essv5003875,essv5062270,essv5031151 M 1184 0 12 "" NA18507,NA19192,NA19194,NA19224,NA19226,NA19394,NA19468,NA21391,NA21421,NA21440,NA21615,NA21826 nsv441781 2 128538342 128543406 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470484 2 128539211 128584311 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547249 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UGGT1 HGDP00470 nsv512779 2 128556393 128556530 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625411 S 1 1 0 "" 1 esv1306949 2 128556450 128556450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3828115 S 2 1 0 "" HuRef esv2538670 2 128587310 128588754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202124 S 1 0 1 UGGT1 NA18507 esv2187638 2 128587543 128588245 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570591 S 1 0 1 UGGT1 NA18507 esv3599 2 128587681 128588127 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26040 S 1 0 1 Single Asian sample YH UGGT1 YH esv2459834 2 128587730 128588039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356540 S 1 0 1 UGGT1 NA18507 esv998959 2 128587731 128588040 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583233 S 3 0 1 UGGT1 HuRef esv1434860 2 128587742 128588052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025942 S 2 0 1 UGGT1 HuRef esv7010 2 128587744 128588054 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29451 S 1 0 1 UGGT1 SJK esv275386 2 128608372 128611980 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585154 S 1250 0 1 UGGT1 nsv819034 2 128629021 128629716 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419060 S 2 0 1 UGGT1 AK1 nsv7326 2 128631137 128644010 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4454 S 9 0 0 UGGT1 NA12878 nsv875034 2 128656269 128806579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543382 S 6533 0 1 HS6ST1,UGGT1 MS16153 nsv521058 2 128689595 128724802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697760 S 2026 0 1 "" nsv834368 2 128690604 128895736 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442216,nssv1442215,nssv1442217,nssv1442219,nssv1442214 M 95 0 5 HS6ST1 nsv516672 2 128724368 128875127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656142,nssv670068,nssv697414,nssv699513,nssv661842,nssv702583,nssv660249 M 2026 0 7 HS6ST1 dgv4302n71 2 128724802 128788244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875035,nsv875036 M 6533 0 2 HS6ST1 IS33684,IS40799 dgv4303n71 2 128747543 128806579 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875039,nsv875037 M 6533 0 2 HS6ST1 IS30197,MS11237 dgv4304n71 2 128747543 128856359 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875041,nsv875040,nsv875038 M 6533 0 4 HS6ST1 IS32322,MS10311,MS17208,MS18276 nsv459263 2 128759109 128834685 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536055 S 1557 0 1 HS6ST1 1780862444_A esv272146 2 128772079 128772395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513931,essv2513695 M 157 2 0 Samples from several populations that are part of the HapMap project. HS6ST1 NA07347,NA19143 nsv821708 2 128786598 128803243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426493 S 31 1 0 HS6ST1 AK6 esv273657 2 128796085 128796361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581541 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2565369 2 128814196 128815722 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247565 S 1 0 1 "" NA18507 esv6793 2 128814368 128815337 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29234 S 1 0 1 "" SJK nsv2913 2 128832359 128857657 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5816 S 9 1 0 "" NA19129 nsv525116 2 128874109 128877673 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701181 S 2026 1 0 "" nsv875042 2 128877673 128981476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546500 S 6533 0 1 "" MS17208 esv27924 2 128944934 128945999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21272 S 451 0 3 "" NA11995,NA18511,NA19114 esv1565750 2 128945449 128945611 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660312 S 2 0 1 "" HuRef esv995955 2 128945451 128945612 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581904 S 3 0 1 "" HuRef esv1004712 2 128950346 128959704 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564002 S 3 0 1 "" HuRef esv28862 2 128956701 128958475 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12628 S 451 0 1 "" NA18861 nsv524258 2 128981476 129005625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700155 S 2026 0 1 "" nsv834370 2 129020379 129231384 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442220 S 95 0 1 "" nsv508866 2 129057621 129142544 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623874 S 4 1 0 "" NA18994 esv2282054 2 129072253 129072674 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854174 S 1 0 1 "" NA18507 esv1967678 2 129080257 129080746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604084 S 1 0 1 "" NA18507 nsv2914 2 129104591 129149374 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7551 S 9 0 1 "" NA12156 nsv516422 2 129111212 129111585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668271,nssv683285,nssv655813 M 2026 0 3 "" nsv834371 2 129116257 129349651 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442221,nssv1442222 M 95 1 1 "" nsv818079 2 129167916 129184243 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417377 S 112 1 0 "" NA18944 nsv821629 2 129213308 130808719 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421350 S 31 0 1 CCDC74B,LOC100131320,LOC285103,LOC389033,LOC440905,MZT2B,POTEF,RAB6C,SMPD4,TUBA3E nsv459274 2 129221005 130864578 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536060 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC115,CCDC74B,IMP4,LOC100131320,LOC285103,LOC389033,LOC440905,MZT2B,POTEF,PTPN18,RAB6C,SMPD4,TUBA3E HGDP00780 nsv525251 2 129221979 129222267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701346 S 2026 0 1 "" nsv10143 2 129229474 129231432 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11730,nssv28845,nssv28581,nssv27629,nssv28710,nssv28884 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA18502,NA18564,NA18853,NA18860,NA19132,NA19221 esv2376050 2 129240716 129241096 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822752 S 1 0 1 "" NA18507 nsv213814 2 129240906 129240994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232392 M 24 "" nsv875043 2 129254619 129310314 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591430 S 6533 1 0 "" IS38818 nsv10144 2 129261015 129263688 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28742,nssv27165 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA19144 esv4519 2 129262659 129263167 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26960 S 1 0 1 Single Asian sample YH "" YH esv1064975 2 129266428 129266489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053297 S 2 0 1 "" HuRef nsv2915 2 129271223 129296712 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3027 S 9 1 0 "" NA18555 nsv508867 2 129282606 129332012 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621176 S 4 1 0 "" NA15510 esv270149 2 129290418 129290503 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518818,essv2514750,essv2515451 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12234,NA12249 esv992921 2 129290432 129290444 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565698 S 3 1 0 "" HuRef nsv2916 2 129299681 129344487 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2293 S 9 0 1 "" NA18555 nsv10145 2 129315163 129322017 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28195 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 esv270715 2 129318301 129318659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510613,essv2494269,essv2493644,essv2508913 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18517,NA18522 esv995558 2 129345295 129345295 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567913 S 3 1 0 "" HuRef esv1409316 2 129345296 129345296 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608368 S 2 1 0 "" HuRef nsv2917 2 129346890 129365844 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10236,nssv4455 M 9 0 2 "" NA12878,NA18956 nsv875044 2 129349673 129455387 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598424 S 6533 0 1 "" IS41263 nsv511193 2 129352457 129362576 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626477 S 1 1 0 "" 1 nsv10146 2 129354557 129362945 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11633,nssv28875,nssv27017,nssv27504,nssv28189,nssv28001,nssv28082,nssv28256,nssv27032,nssv28237,nssv28245 M 31 0 11 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA10863,NA11830,NA12740,NA12802,NA18537,NA18564,NA18972,NA18980,NA19007 dgv665n67 2 129354718 129358260 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821709,nsv821711 M 31 0 18 "" AK10,AK18,AK2,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18592,NA18947,NA18949,NA18968,NA18969,NA18972,NA18973 nsv498934 2 129354889 129362676 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585795 S 9 0 1 "" esv5634 2 129354895 129362680 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28075 S 1 0 1 "" SJK nsv442831 2 129354948 129356767 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421914 2 129354948 129361791 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150317,essv5126916,essv5036669,essv5030914,essv5129596,essv5140490,essv5012960,essv5106950,essv5107360,essv5027215,essv5097944,essv5056206,essv5086048,essv5008237,essv5155665,essv5022533,essv5025244,essv5113676,essv5081417,essv5144655,essv5115829,essv5132824,essv5045139,essv5097139,essv5118458,essv5082125,essv5087043,essv5075653,essv5063881,essv5120749,essv5106519,essv5096267,essv5147370,essv5132275,essv5061111,essv5019410,essv5062012,essv5110406,essv5076960,essv5133095,essv5110431,essv5069592,essv5111286,essv5009848,essv5083653,essv5109393,essv5140059,essv5106150,essv5129533,essv5005628,essv5094332,essv5074285,essv5015520,essv5047986,essv5076985,essv5120354,essv5086303,essv5081102,essv5076099,essv5027292,essv5020339,essv5058714,essv5093118,essv5040325,essv5049313,essv5063102,essv5031847,essv5060885,essv5050038,essv5034199,essv5083087,essv5082119,essv5159105,essv5087180,essv5074550,essv5083645,essv5090902,essv5073674,essv5137931,essv5129947,essv5097982,essv5073352,essv5064170,essv5137582,essv5154995,essv5008681,essv5022360,essv5116607,essv5070636,essv5006308,essv5018939,essv5082190,essv5156780,essv5075258,essv5029500,essv5113435,essv5141386,essv5026681,essv5030734,essv5021351,essv5008349,essv5074643,essv5071269,essv5113396,essv5068525,essv5119167,essv5085358,essv5014204,essv5132728,essv5036405,essv5109342,essv5005453,essv5151848,essv5101292,essv5043637,essv5052893,essv5034768,essv5161129,essv5092991,essv5118682,essv5112337,essv5150817,essv5122606,essv5106795,essv5083172,essv5085790,essv5075893,essv5114389,essv5055169,essv5109415,essv5069477,essv5157721,essv5006982,essv5017644,essv5066676,essv5138400,essv5095617,essv5142393,essv5114570,essv5153421,essv5125386,essv5021328,essv5157074,essv5160070,essv5112611,essv5005747,essv5050801,essv5061792,essv5052854,essv5047792,essv5144974,essv5072268,essv5046594,essv5028952,essv5014805,essv5071255,essv5096760,essv5114245,essv5041018,essv5098570,essv5130298,essv5107136,essv5083831,essv5114618,essv5005970,essv5141846,essv5008651,essv5062189,essv5125905,essv5135443,essv5133699,essv5093367,essv5035843,essv5043365,essv5033719,essv5073204,essv5139766,essv5155780,essv5135863,essv5036464,essv5111087,essv5060617,essv5149310,essv5091982,essv5101796,essv5005314,essv5102954,essv5093213,essv5005318,essv5111453,essv5070230,essv5004367,essv5051432,essv5032619,essv5116630,essv5019743,essv5137251,essv5093382,essv5024357,essv5102507,essv5080267,essv5106013,essv5061897,essv5137618,essv5112218,essv5117077,essv5155461,essv5077408,essv5145189,essv5131009,essv5010694,essv5068015,essv5119760,essv5146616,essv5107731,essv5006299,essv5092794,essv5027025,essv5120008,essv5018998,essv5132866,essv5108298,essv5073493,essv5147350,essv5029890,essv5120772,essv5048320,essv5070867,essv5039401,essv5046464,essv5032681,essv5134003,essv5057682,essv5018217,essv5107809,essv5013267,essv5004403,essv5062781,essv5142904,essv5141780,essv5152492,essv5038139,essv5088399,essv5087420,essv5011402,essv5100091,essv5138633,essv5145804,essv5113600,essv5057208,essv5007288,essv5115450,essv5082632,essv5096313,essv5063483,essv5142438,essv5002405,essv5069267,essv5043835,essv5007802,essv5062272,essv5089088,essv5063202,essv5008371,essv5023953,essv5144365,essv5052698,essv5105418,essv5084017,essv5147941,essv5042600,essv5101301,essv5127807,essv5136899,essv5147541 M 1184 0 275 "" NA06994,NA06995,NA06997,NA07000,NA07029,NA07045,NA07347,NA07435,NA10840,NA10846,NA10847,NA10853,NA10856,NA10863,NA10864,NA10865,NA11829,NA11830,NA11892,NA11894,NA12144,NA12146,NA12264,NA12287,NA12335,NA12336,NA12340,NA12343,NA12708,NA12739,NA12740,NA12748,NA12750,NA12751,NA12766,NA12767,NA12775,NA12776,NA12778,NA12802,NA12812,NA12813,NA12815,NA12842,NA12873,NA12874,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17968,NA17970,NA17972,NA17975,NA17976,NA17980,NA17981,NA17982,NA17986,NA17988,NA17990,NA17997,NA17998,NA17999,NA18101,NA18105,NA18106,NA18112,NA18114,NA18118,NA18124,NA18127,NA18128,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18141,NA18144,NA18146,NA18147,NA18148,NA18149,NA18151,NA18152,NA18157,NA18159,NA18524,NA18526,NA18537,NA18542,NA18543,NA18548,NA18550,NA18557,NA18558,NA18559,NA18564,NA18566,NA18570,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18596,NA18597,NA18608,NA18609,NA18612,NA18615,NA18616,NA18618,NA18619,NA18624,NA18626,NA18628,NA18630,NA18632,NA18633,NA18635,NA18636,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18685,NA18696,NA18704,NA18747,NA18940,NA18943,NA18945,NA18947,NA18949,NA18952,NA18954,NA18956,NA18960,NA18962,NA18964,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18978,NA18980,NA18990,NA18993,NA19000,NA19001,NA19007,NA19010,NA19054,NA19056,NA19059,NA19064,NA19066,NA19067,NA19075,NA19077,NA19080,NA19081,NA19083,NA19086,NA19087,NA19088,NA19649,NA19658,NA19669,NA19671,NA19682,NA19683,NA19684,NA19686,NA19722,NA19724,NA19746,NA19755,NA19757,NA19770,NA19771,NA19777,NA19788,NA19790,NA19795,NA19796,NA19835,NA20284,NA20335,NA20363,NA20364,NA20509,NA20520,NA20525,NA20535,NA20541,NA20543,NA20589,NA20755,NA20757,NA20758,NA20768,NA20775,NA20785,NA20795,NA20804,NA20811,NA20813,NA20818,NA20819,NA20852,NA20858,NA20861,NA20866,NA20870,NA20874,NA20877,NA20887,NA20888,NA20889,NA20891,NA20895,NA20896,NA20897,NA20898,NA20900,NA20904,NA20906,NA20908,NA20909,NA20910,NA21088,NA21091,NA21092,NA21098,NA21102,NA21103,NA21109,NA21117,NA21125,NA21142,NA21295,NA21313,NA21317,NA21362,NA21385,NA21479,NA21510,NA21529,NA21580,NA21616,NA21631,NA21685,NA21723 esv22624 2 129354960 129363051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18697 S 451 0 5 "" NA07045,NA11894,NA12287,NA12776,NA12878 nsv820096 2 129354993 129362886 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419848 S 2 0 1 "" AK1 nsv514091 2 129355104 129362160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627097 S 1414 0 1 "" esv33242 2 129355477 129357900 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101443,essv95623 M 51 0 2 "" 21603,21841 nsv438369 2 129357904 129358422 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471103,nssv471106,nssv471100,nssv471101,nssv471105,nssv471104 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18564,NA18566,NA18570,NA18579,NA18952,NA18968 nsv519413 2 129361791 129364665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656095,nssv690700 M 2026 0 2 "" esv2647301 2 129401507 129402568 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253538 S 1 0 0 "" NA18507 esv1535035 2 129414130 129414130 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735389 S 2 1 0 "" HuRef esv2002544 2 129428184 129428605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878137 S 1 0 1 "" NA18507 nsv471618 2 129438420 129603253 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549950 S 48 0 1 "" NA17017 nsv2918 2 129478163 129491431 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7552 S 9 0 1 "" NA12156 nsv524771 2 129481981 129485659 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700762 S 2026 0 1 "" esv22119 2 129500983 129503644 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19735 S 451 0 2 "" NA12156,NA12287 nsv517457 2 129501193 129501677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693600,nssv668904,nssv680408,nssv679299,nssv669214,nssv656119,nssv682640,nssv652069,nssv665394,nssv679001,nssv675059 M 2026 0 11 "" nsv518280 2 129501193 129539628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695711 S 2026 0 1 "" dgv1246e1 2 129582094 129866515 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7736,essv1895,essv8866,essv2978,essv18258,essv7132,essv21767,essv16103,essv3739,essv21025,essv16927,essv21728,essv15584,essv23660,essv5342,essv18644,essv7342,essv10986,essv23942,essv7607,essv16656,essv5288,essv19757,essv4358,essv11853,essv15989,essv20383,essv17636,essv6266,essv22176,esv46,essv9337,essv13867,essv11493,essv13458,essv19932,essv8353,essv4789,essv10922,essv18139,essv14974,essv22560,essv14567,essv13050,essv5507,essv20180,essv16849,essv24142,essv23591,essv15518,essv153,essv4014 M 271 0 0 "" NA06991,NA07348,NA10830,NA10835,NA10846,NA10847,NA10857,NA10863,NA11832,NA11993,NA12006,NA12234,NA12239,NA12248,NA12753,NA12813,NA12814,NA18501,NA18505,NA18508,NA18537,NA18545,NA18563,NA18570,NA18573,NA18620,NA18624,NA18632,NA18633,NA18636,NA18852,NA18853,NA18854,NA18858,NA18870,NA18961,NA18968,NA18970,NA18976,NA18981,NA19100,NA19137,NA19142,NA19143,NA19144,NA19173,NA19192,NA19202,NA19205,NA19209,NA19221 esv34116 2 129602888 129936140 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv10147 2 129631397 129635471 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28780 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv2919 2 129640783 129668533 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4456 S 9 1 0 "" NA12878 nsv508868 2 129641767 129655041 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619291,nssv618010 M 4 2 0 "" CHM,NA10860 esv1010683 2 129645586 129650389 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564864 S 3 1 0 "" HuRef nsv518253 2 129678282 129904833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695684 S 2026 0 1 "" nsv2920 2 129707501 129752294 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7553 S 9 0 1 "" NA12156 nsv10148 2 129748133 129755162 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27162 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 esv5562 2 129753571 129753878 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28003 S 1 0 1 "" SJK esv25488 2 129780230 129784525 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10765 S 451 0 1 "" NA07037 nsv834372 2 129853042 130006156 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442225,nssv1442223,nssv1442224 M 95 3 0 "" nsv459285 2 129881989 130136837 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536069 S 1557 1 0 "" 1780854511_A esv998501 2 129884145 129890924 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563758 S 3 0 1 "" HuRef esv1375340 2 129889410 129889725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758562 S 2 0 1 "" HuRef nsv10149 2 129895956 129899137 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28443 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18975 nsv10151 2 129931995 129933682 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28483 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18975 nsv2922 2 129955351 129969716 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4457 S 9 0 1 "" NA12878 nsv10152 2 129958513 129968426 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28132 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 esv23399 2 129958916 129967401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14456 S 451 0 3 "" NA12878,NA18909,NA19257 nsv441782 2 129958973 129963303 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514092 2 129959072 129966432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627108 S 1414 0 1 "" nsv834373 2 129996472 130192699 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442226 S 95 0 1 "" nsv875045 2 130019865 130602361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555515 S 6533 1 0 LOC100131320,LOC389033,LOC440905,POTEF,RAB6C MS21397 nsv2923 2 130049742 130094749 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5817 S 9 0 1 "" NA19129 esv268555 2 130051787 130052139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504002 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set essv3693 2 130063308 130583445 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100131320,LOC389033,LOC440905,POTEF,RAB6C NA18947 dgv1247e1 2 130063308 132914473 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15150,esv613 M 271 0 0 ANKRD30BL,ARHGEF4,C2orf27A,C2orf27B,CCDC115,CCDC74A,CCDC74B,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,GPR39,IMP4,LOC100131320,LOC150527,LOC150776,LOC285103,LOC389033,LOC389043,LOC401010,LOC440905,LOC440910,LOC646743,MIR4784,MIR663B,MZT2A,MZT2B,PLEKHB2,POTEE,POTEF,POTEKP,PTPN18,RAB6C,SMPD4,TISP43,TUBA3D,TUBA3E,WTH3DI NA19129 nsv875046 2 130063429 130101387 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598072 S 6533 0 1 "" IS40902 esv2206321 2 130072144 130072874 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498771 S 1 0 1 "" NA18507 esv2751826 2 130080201 130859606 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982174,essv6982173,essv6982172 M 771 1 0 CCDC115,CCDC74B,IMP4,LOC100131320,LOC285103,LOC389033,LOC440905,MZT2B,POTEF,PTPN18,RAB6C,SMPD4,TUBA3E BEC_40 nsv875047 2 130081499 130428034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543035 S 6533 1 0 LOC389033 MS16032 nsv10153 2 130096794 130098133 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28905 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv821712 2 130097005 130097995 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421554,nssv1424463,nssv1440224 M 31 0 3 "" NA18564,NA18968,NA18997 nsv10154 2 130119194 130120974 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11474 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 esv1409036 2 130119989 130119989 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014455 S 2 1 0 "" HuRef nsv821713 2 130130166 130135130 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439184 S 31 1 0 "" NA18592 nsv875048 2 130149783 130182350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596911 S 6533 1 0 "" IS40665 nsv436265 2 130153649 130162049 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465943 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22585 2 130154344 130161862 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20402,esv16391 M 451 0 4 "" NA18505,NA18508,NA18861,NA19257 nsv821001 2 130154344 130161862 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420260 S 1 0 1 "" NA10851 esv1200912 2 130159951 130159951 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816105 S 2 1 0 "" HuRef esv2615171 2 130209148 130210598 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218722 S 1 0 1 "" NA18507 nsv875049 2 130251686 130402712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517570 S 6533 1 0 LOC389033 SP57322 nsv875050 2 130260216 130491400 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560958 S 6533 1 0 LOC100131320,LOC389033,RAB6C MS24783 esv24786 2 130261182 130275393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18976,esv17400,esv12799 M 451 0 8 "" NA18517,NA18523,NA18861,NA18907,NA18909,NA19147,NA19225,NA19240 nsv2924 2 130264605 130291590 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1536 S 9 0 1 "" NA19240 nsv10155 2 130265142 130275291 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11504,nssv28810,nssv28798 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA19240 nsv442832 2 130265745 130275716 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514093 2 130265968 130274568 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627119 S 1414 0 1 "" nsv875051 2 130266605 130320465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546501 S 6533 0 1 "" MS17208 dgv1248e1 2 130292119 130583445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9050,essv24852,essv2655,essv8848,essv18208,essv17834,essv6320,essv12408,essv20999,essv588,essv7406,essv23978,essv22168,essv8736,essv24680,essv11193,essv16554,essv15265,essv2007,essv24038,essv21684,essv1367,essv10150,essv13591,essv15524,essv20314,essv13800,essv14287,essv12499,essv4910,essv11631,essv17203,essv4357,essv22563,essv9627,essv13424,essv20943,essv17331,essv22499,essv18737,essv19918,essv8336,essv17536,essv11491,essv5271,essv24587,essv21824,essv14051,essv15323,essv9816,essv16860,essv14969,essv21378,essv20009,essv18601,essv12711,essv12970,essv20598,essv14752,essv1019,essv9255,essv1188,essv469,essv6565,essv18999,essv3753,essv1096,essv18847,essv2250,essv11738,essv22236,essv10280 M 271 0 0 LOC100131320,LOC389033,LOC440905,POTEF,RAB6C NA06991,NA07000,NA07048,NA07056,NA07348,NA10831,NA10857,NA10859,NA11829,NA11839,NA11882,NA11992,NA12005,NA12044,NA12057,NA12234,NA12236,NA12248,NA12716,NA12740,NA12751,NA12762,NA12801,NA12813,NA12874,NA18504,NA18505,NA18506,NA18508,NA18561,NA18573,NA18609,NA18621,NA18623,NA18624,NA18856,NA18858,NA18859,NA18861,NA18862,NA18863,NA18870,NA18914,NA18949,NA18951,NA18952,NA18961,NA18964,NA18966,NA18967,NA18998,NA19005,NA19007,NA19092,NA19094,NA19127,NA19128,NA19130,NA19132,NA19141,NA19153,NA19154,NA19159,NA19171,NA19173,NA19192,NA19194,NA19205,NA19207,NA19210,NA19211,NA19238 dgv1249e1 2 130292119 130746161 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17920,essv1529,essv18062,essv12210,essv13727,essv16695,essv23541,essv16946,essv62,essv23439 M 271 0 0 CCDC74B,LOC100131320,LOC285103,LOC389033,LOC440905,MZT2B,POTEF,RAB6C,SMPD4,TUBA3E NA06993,NA10854,NA12003,NA12145,NA18980,NA18991,NA19101,NA19119,NA19142,NA19144 dgv1250e1 2 130292119 131273760 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3012,essv5524,essv5707,essv15735,essv19396,essv13862 M 271 0 0 CCDC115,CCDC74B,CFC1,CFC1B,CYP4F30P,FAM123C,GPR148,IMP4,LOC100131320,LOC150527,LOC285103,LOC389033,LOC440905,LOC646743,MZT2B,POTEF,PTPN18,RAB6C,SMPD4,TISP43,TUBA3E NA11840,NA18529,NA18550,NA18854,NA18981,NA19131 nsv428403 2 130292119 131356110 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454095,nssv454096,nssv454086,nssv454091,nssv454098,nssv454100,nssv454090,nssv454089,nssv454094,nssv454087,nssv454092,nssv454093,nssv454085 M 62 0 11 CCDC115,CCDC74B,CFC1,CFC1B,CYP4F30P,FAM123C,GPR148,IMP4,LOC100131320,LOC150527,LOC285103,LOC389033,LOC440905,LOC646743,MZT2B,POTEF,PTPN18,RAB6C,SMPD4,TISP43,TUBA3E HGDP00460,HGDP00472,HGDP00986,HGDP01087,HGDP01089,HGDP01094,NA18916,NA19096,NA19181,NA19189,NA19225 nsv10156 2 130348965 130354922 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11760 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv875052 2 130382092 130428034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549406 S 6533 1 0 LOC389033 MS18212 nsv834374 2 130401477 130570107 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442227 S 95 1 0 LOC100131320,LOC389033,LOC440905,POTEF,RAB6C nsv10157 2 130405317 130484939 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27148,nssv28914,nssv28289,nssv28086,nssv27295,nssv28818,nssv28828,nssv28239,nssv28706,nssv28287,nssv27292,nssv28295,nssv27932,nssv27837,nssv27737,nssv28572,nssv27614,nssv27634,nssv28621,nssv28985,nssv28965,nssv28521,nssv28788,nssv28826,nssv28796,nssv29015,nssv27524,nssv27412,nssv28955,nssv28523,nssv11820,nssv11663,nssv28750,nssv28840 M 31 0 23 Samples from several populations that are part of the HapMap project. LOC100131320,LOC389033,RAB6C NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18537,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 esv29254 2 130410408 130484698 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15540,esv11333,esv15551,esv18146 M 451 0 5 LOC100131320,RAB6C NA06985,NA12489,NA18505,NA19114,NA19225 dgv1251e1 2 130418028 130583445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10239,essv20141 M 271 0 0 LOC100131320,LOC440905,POTEF,RAB6C NA07345,NA19152 nsv471419 2 130453705 130456781 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548228,nssv548226,nssv548227 M 3 LOC100131320,RAB6C nsv517144 2 130491400 130508683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653861,nssv664983,nssv659198 M 2026 0 3 LOC440905 esv25418 2 130494081 130505507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17850 S 451 0 1 LOC440905 NA19190 nsv10158 2 130494486 130503287 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28848,nssv28856,nssv27415,nssv28870,nssv28339,nssv28593 M 31 0 6 Samples from several populations that are part of the HapMap project. LOC440905 NA12740,NA18504,NA18860,NA18975,NA19144,NA19173 nsv10159 2 130502748 130510911 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11850 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC440905 NA19221 dgv4305n71 2 130508683 130864220 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875068,nsv875054,nsv875053,nsv875058,nsv875057,nsv875070,nsv875056,nsv875064,nsv875059,nsv875063,nsv875062,nsv875067,nsv875065,nsv875069,nsv875066 M 6533 27 0 CCDC115,CCDC74B,IMP4,LOC285103,LOC440905,MZT2B,POTEF,PTPN18,SMPD4,TUBA3E IS30149,IS36481,IS37577,IS37646,IS39119,IS40156,MS10666,MS11444,MS11886,MS13240,MS13487,MS15220,MS15397,MS16918,MS17398,MS17878,MS17906,MS18205,MS19035,MS19159,MS20616,SP50066,SP50182,SP50900,SP52432,SP81260,SP81578 dgv4306n71 2 130508683 130938828 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875079,nsv875071,nsv875055,nsv875073,nsv875060,nsv875072,nsv875078,nsv875082 M 6533 20 0 CCDC115,CCDC74B,IMP4,LOC285103,LOC440905,MZT2B,POTEF,PTPN18,SMPD4,TUBA3E IS38057,IS38138,IS38269,IS41908,IS41950,MS11031,MS11821,MS14247,MS14287,MS14658,MS16940,MS18174,MS21795,MS24151,MS25172,SP50713,SP52440,SP55462,SP57865,SP58090 nsv442833 2 130510353 130539705 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC440905 essv1878 2 130512363 130746161 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC74B,LOC285103,LOC440905,MZT2B,POTEF,SMPD4,TUBA3E NA18976 nsv10160 2 130525250 130547701 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11880,nssv28475,nssv11693 M 31 1 2 Samples from several populations that are part of the HapMap project. POTEF NA18552,NA18972,NA19221 esv27707 2 130533681 130541341 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17687 S 451 2 0 "" NA18517,NA19099 nsv10163 2 130549277 130563354 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28974,nssv27742,nssv28878,nssv28661,nssv29045 M 31 0 5 Samples from several populations that are part of the HapMap project. POTEF NA12155,NA18502,NA18860,NA18980,NA19132 nsv875061 2 130554394 130685166 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557165,nssv1553268 M 6533 2 0 CCDC74B,LOC285103,MZT2B,POTEF,SMPD4,TUBA3E MS19886,MS22453 nsv834375 2 130580732 130767519 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442228 S 95 0 1 CCDC74B,LOC285103,MZT2B,POTEF,SMPD4,TUBA3E nsv10164 2 130582923 130594508 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27527,nssv27842,nssv29004,nssv28886,nssv28388,nssv29075 M 31 0 6 Samples from several populations that are part of the HapMap project. POTEF NA12155,NA12740,NA18980,NA19132,NA19144,NA19173 nsv7327 2 130599207 132027575 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4459,nssv4460 M 9 0 0 ARHGEF4,CCDC115,CCDC74A,CCDC74B,CFC1,CFC1B,CYP4F30P,FAM123C,FAM168B,GPR148,IMP4,LOC150527,LOC150776,LOC285103,LOC389043,LOC401010,LOC440910,LOC646743,MIR4784,MZT2A,MZT2B,PLEKHB2,POTEE,POTEF,PTPN18,SMPD4,TISP43,TUBA3D,TUBA3E,WTH3DI NA12878 nsv875074 2 130602361 130715628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583558,nssv1524663 M 6533 2 0 CCDC74B,LOC285103,MZT2B,POTEF,SMPD4,TUBA3E IS36532,SP55150 dgv4307n71 2 130602361 130854382 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875092,nsv875081,nsv875080,nsv875083,nsv875076,nsv875075,nsv875077,nsv875090,nsv875089,nsv875088,nsv875085 M 6533 28 0 CCDC115,CCDC74B,IMP4,LOC285103,MZT2B,POTEF,PTPN18,SMPD4,TUBA3E IS32736,IS34378,IS34482,IS35768,IS35789,IS35972,IS38141,IS39916,MS10391,MS11435,MS12387,MS14068,MS15382,MS15916,MS16835,MS18311,MS19143,MS19638,MS19941,MS20997,MS21290,MS21833,MS22848,MS24381,MS25696,MS25798,SP51506,SP81091 nsv520559 2 130607377 130864578 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687961,nssv694129,nssv675857,nssv672527 M 2026 3 1 CCDC115,CCDC74B,IMP4,LOC285103,MZT2B,PTPN18,SMPD4,TUBA3E nsv875084 2 130624588 130843631 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543383,nssv1549536 M 6533 1 1 CCDC115,IMP4,MZT2B,PTPN18,SMPD4,TUBA3E MS16153,MS18261 nsv482053 2 130625450 130656164 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558414 S 1 1 0 MZT2B,SMPD4 KB1 nsv875086 2 130649378 130749295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595146 S 6533 1 0 MZT2B,SMPD4,TUBA3E IS40135 nsv875087 2 130649378 130805605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554862,nssv1531795 M 6533 2 0 MZT2B,SMPD4,TUBA3E MS10658,MS21038 dgv4308n71 2 130649378 130901823 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875091,nsv875094 M 6533 5 0 CCDC115,IMP4,MZT2B,PTPN18,SMPD4,TUBA3E MS10682,MS14336,MS15921,MS20830,MS24781 nsv470485 2 130659983 130819008 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547250 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC115,IMP4,MZT2B,TUBA3E HGDP00716 nsv818080 2 130659983 130826567 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417185 S 112 1 0 CCDC115,IMP4,MZT2B,TUBA3E NA18550 dgv475n27 2 130659983 130864578 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459296,nsv459307,nsv459318 M 1557 3 0 CCDC115,IMP4,MZT2B,PTPN18,TUBA3E HGDP00716,HGDP01241,HGDP01328 essv2399 2 130664357 130859606 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC115,IMP4,MZT2B,PTPN18,TUBA3E NA18976 esv27317 2 130671136 130673804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11987 S 451 0 3 TUBA3E NA12004,NA12878,NA19114 nsv10165 2 130671152 130674761 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11534 S 31 0 1 Samples from several populations that are part of the HapMap project. TUBA3E NA18517 nsv508870 2 130677791 130698691 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623875 S 4 1 0 "" NA18994 esv22260 2 130682838 130684330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17961 S 451 0 1 "" NA18505 nsv10166 2 130683045 130685049 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28701 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv268128 2 130684915 130686326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516541,essv2514237 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12874 dgv4309n71 2 130685166 130864220 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875095,nsv875096,nsv875093 M 6533 3 0 CCDC115,IMP4,PTPN18 IS39399,MS19886,MS22453 nsv10167 2 130685439 130689302 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11723,nssv28306 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18972,NA19007 nsv10168 2 130748708 130762015 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28741,nssv28515,nssv28612,nssv11910 M 31 2 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA18502,NA18552,NA19221 nsv459341 2 130755609 130864578 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536105 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC115,IMP4,PTPN18 HGDP00760 nsv875097 2 130755625 130843631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546502 S 6533 0 1 CCDC115,IMP4,PTPN18 MS17208 nsv875098 2 130776142 130843631 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525965 S 6533 1 0 CCDC115,IMP4,PTPN18 SP56906 nsv508105 2 130778695 130784695 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624280 S 4 0 1 "" NA18994 dgv4310n71 2 130782163 130901823 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875100,nsv875101,nsv875099 M 6533 4 0 CCDC115,IMP4,PTPN18 IS36532,IS38440,IS40135,IS41008 nsv875102 2 130828896 130901823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503200,nssv1519563,nssv1500440 M 6533 3 0 PTPN18 SP50182,SP51506,SP81091 nsv10169 2 130884195 130898118 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27937,nssv28908,nssv29034,nssv29105,nssv27637,nssv28916,nssv28900,nssv28779,nssv28428 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740,NA18502,NA18504,NA18860,NA18980,NA19132,NA19144,NA19173 esv27361 2 130884610 130896893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11686 S 451 0 2 "" NA12044,NA19190 nsv10170 2 130916591 130983576 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11753,nssv28998,nssv11813,nssv28968,nssv29135,nssv11940,nssv28020,nssv28976 M 31 1 5 Samples from several populations that are part of the HapMap project. "" NA12155,NA18860,NA18972,NA18980,NA19173,NA19221 dgv18e24 2 130986928 130987827 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750591,esv2750690 M 51 2 0 "" 22259,22335 esv26561 2 131030431 131038196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20093 S 451 0 1 "" NA12239 nsv10171 2 131030869 131037959 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27722,nssv28182 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847 nsv875103 2 131052975 131198948 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592598 S 6533 1 0 CFC1,CFC1B,CYP4F30P,LOC150527,LOC646743,TISP43 IS39243 nsv10172 2 131118139 131153017 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28105,nssv29028,nssv29165,nssv28809,nssv11843 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18860,NA18972,NA18980 nsv875104 2 131140072 131684890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587623 S 6533 0 1 ARHGEF4,CYP4F30P,FAM123C,FAM168B,GPR148,PLEKHB2 IS38075 nsv10174 2 131171465 131184206 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28839,nssv28155,nssv29195,nssv28468,nssv29006,nssv29064 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740,NA18502,NA18980,NA19132,NA19173 esv27850 2 131172429 131182606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12276 S 451 0 1 "" NA19190 nsv524021 2 131198949 132027558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699883 S 2026 0 1 ARHGEF4,CCDC74A,FAM123C,FAM168B,GPR148,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,TUBA3D,WTH3DI nsv10175 2 131236606 131240351 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29036 S 31 0 1 Samples from several populations that are part of the HapMap project. FAM123C NA19173 nsv875105 2 131282117 131373055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543384 S 6533 0 1 "" MS16153 nsv10176 2 131298217 131300319 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11970,nssv29225 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA19221 nsv523500 2 131309515 131327802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699269 S 2026 0 1 "" nsv2925 2 131315150 131361261 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7554,nssv5818,nssv1537,nssv2294 M 9 0 4 "" NA12156,NA18555,NA19129,NA19240 dgv1252e1 2 131318128 132430916 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16940,essv286,essv3052,essv57,essv22583,essv17762,essv21807,essv5541,essv4390,essv18090,essv18826,essv12173,essv23971,essv16665,essv24074,essv18613,essv20360,essv9634,essv16490,essv15353,essv15215,essv20022,essv12461,essv13829,essv9100,essv22501,essv19448,essv13004,essv9118,essv17551,essv17900,essv3705,essv5173,essv14341,essv15745,essv13649,essv19940,essv23446,essv2273,essv20136,essv22220,essv10341 M 271 0 0 ARHGEF4,C2orf27A,C2orf27B,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,POTEKP,TUBA3D,WTH3DI NA07048,NA07345,NA07348,NA10831,NA10854,NA10859,NA11839,NA11840,NA11882,NA12003,NA12044,NA12145,NA12234,NA12236,NA12716,NA12751,NA12762,NA12813,NA18506,NA18529,NA18573,NA18611,NA18854,NA18859,NA18860,NA18862,NA18947,NA18966,NA18978,NA18981,NA18991,NA19094,NA19101,NA19127,NA19131,NA19132,NA19141,NA19142,NA19144,NA19194,NA19207,NA19210 nsv517274 2 131319696 131339636 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661806,nssv673402,nssv653775,nssv679622,nssv654758,nssv681596,nssv685535,nssv686496,nssv696138,nssv656889,nssv658349,nssv693879,nssv667287,nssv655938,nssv674536 M 2026 0 15 "" essv11772 2 131322523 131836539 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARHGEF4,FAM168B,LOC440910,PLEKHB2,POTEE,WTH3DI NA18504 nsv10177 2 131323557 131325700 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27745 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 esv998505 2 131329934 131338036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564165 S 3 0 1 "" HuRef esv26494 2 131331321 131337936 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18205 S 451 0 11 "" NA12044,NA12878,NA18502,NA18523,NA18861,NA18909,NA18916,NA19099,NA19129,NA19240,NA19257 nsv514976 2 131331368 131332472 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628478 S 1414 0 0 "" nsv511813 2 131331629 131334843 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626466 S 1 0 1 "" 1 nsv514977 2 131334112 131334440 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628479 S 1414 0 0 "" esv1486831 2 131334474 131337950 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017881 S 2 0 1 "" HuRef nsv10178 2 131354524 131365067 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28960 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv25680 2 131355650 131363454 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20366 S 451 0 1 "" NA19225 nsv441783 2 131357910 131360298 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422008 2 131357910 131361436 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5032790,essv5011257,essv5127999,essv5004524,essv5148599,essv5128359,essv5140197,essv5157399,essv5003829,essv5030636,essv5130784,essv5130623,essv5062234,essv5112984 M 1184 0 14 "" NA18504,NA19107,NA19117,NA19128,NA19141,NA19142,NA19174,NA19224,NA19225,NA19394,NA20340,NA20357,NA21333,NA21434 nsv517124 2 131357941 131361436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687263,nssv693665,nssv675173,nssv683594,nssv663022,nssv680935,nssv680349,nssv683382,nssv692172,nssv656399,nssv677129,nssv665445,nssv653824,nssv679801,nssv676216,nssv673086 M 2026 0 16 "" nsv818081 2 131357941 131361436 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415606,nssv1415595 M 112 0 2 "" NA19141,NA19142 nsv514094 2 131358080 131359376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627131 S 1414 0 1 "" esv1708111 2 131414654 131414654 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622521 S 2 1 0 ARHGEF4 HuRef dgv1253e1 2 131497953 131836539 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9702,essv8815,essv20171,essv9186,essv13455,essv14984,essv24720 M 271 0 0 ARHGEF4,FAM168B,LOC440910,PLEKHB2,POTEE,WTH3DI NA11829,NA11832,NA18508,NA18870,NA18913,NA19128,NA19192 dgv1254e1 2 131497953 132173079 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17115,essv6128,essv3783,essv1386,essv21699,essv13785,essv7213,essv21398,essv18177,essv6345,essv6221,essv21063,essv11499,essv5746,essv18769,essv5282,essv2037,essv1205,essv2168,essv7375,essv1095,essv2661,essv1492 M 271 0 0 ARHGEF4,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,POTEKP,TUBA3D,WTH3DI NA06991,NA12057,NA12248,NA12740,NA12874,NA18532,NA18547,NA18593,NA18609,NA18623,NA18624,NA18636,NA18949,NA18951,NA18960,NA18961,NA18964,NA18967,NA18980,NA19007,NA19153,NA19171,NA19173 nsv428404 2 131497953 132332773 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454106,nssv454113,nssv454103,nssv454102,nssv454114,nssv454101,nssv454105,nssv454107,nssv454116,nssv454104,nssv454108,nssv454109,nssv454115 M 62 0 13 ARHGEF4,C2orf27A,C2orf27B,CCDC74A,FAM168B,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,PLEKHB2,POTEE,POTEKP,TUBA3D,WTH3DI HGDP00460,HGDP00462,HGDP00467,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01094,NA18916,NA19096,NA19181,NA19189,NA19225 esv2576731 2 131560209 131561749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383007 S 1 0 1 FAM168B NA18507 esv2157663 2 131560632 131561274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753218 S 1 0 1 FAM168B NA18507 esv3831 2 131560754 131561208 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26272 S 1 0 1 Single Asian sample YH FAM168B YH esv2497466 2 131560825 131561143 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278048 S 1 0 1 FAM168B NA18507 nsv214458 2 131560826 131561144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233036 M 24 FAM168B nsv10179 2 131566783 131568898 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28345 S 31 0 1 Samples from several populations that are part of the HapMap project. FAM168B NA18537 esv6707 2 131603176 131603639 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29148 S 1 0 0 PLEKHB2 SJK esv1559384 2 131603788 131603788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066663 S 2 1 0 PLEKHB2 HuRef nsv433232 2 131605649 131612946 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463113 S 9 0 1 Samples from several populations that are part of the HapMap project. PLEKHB2 NA18956 dgv1255e1 2 131630364 131871889 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11461,essv12954 M 271 0 0 LOC440910,POTEE,WTH3DI NA18856,NA19102 nsv10180 2 131632196 131840839 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27940,nssv11468,nssv29094,nssv29020,nssv29238,nssv29019,nssv29208,nssv11588,nssv29050,nssv28136,nssv29096,nssv11963,nssv29178,nssv28633,nssv28023,nssv29088,nssv28108,nssv29124,nssv28888,nssv11558,nssv28652,nssv28015,nssv28989,nssv28673,nssv28698,nssv28869,nssv28236,nssv11903,nssv29080,nssv29049,nssv28899,nssv29148,nssv11933,nssv29184,nssv28858,nssv29058,nssv28959,nssv11498,nssv28205,nssv28578,nssv28746,nssv11873,nssv11993,nssv28337,nssv29214,nssv27822,nssv28990,nssv28508,nssv28585,nssv29126,nssv11528,nssv28356,nssv28658,nssv29156,nssv29118,nssv27845,nssv28618,nssv29066,nssv28186,nssv29154 M 31 0 20 Samples from several populations that are part of the HapMap project. LOC440910,POTEE,WTH3DI NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA18502,NA18504,NA18552,NA18563,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 nsv821144 2 131645979 131673369 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420261 S 1 1 0 "" NA10851 esv29402 2 131646659 131677122 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17695,esv19658 M 451 1 12 "" NA07045,NA12004,NA12044,NA12287,NA12776,NA18511,NA18858,NA18861,NA18907,NA18909,NA18916,NA19129,NA19190 dgv1256e1 2 131662916 132332773 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3311,essv13713,essv23547,essv11148 M 271 0 0 C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,POTEKP,TUBA3D,WTH3DI NA06993,NA18972,NA19119,NA19211 essv7904 2 131671717 131814612 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC440910,POTEE NA19239 esv34412 2 131671717 131967436 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985423,essv6980883,essv6980884 M 771 1 0 LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEE,TUBA3D,WTH3DI NA19140 nsv875106 2 131684890 131763066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546302 S 6533 0 1 LOC440910,POTEE MS17130 dgv4311n71 2 131763066 131893908 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875113,nsv875111,nsv875107 M 6533 3 0 LOC389043,LOC440910,WTH3DI SP54381,SP54937,SP58537 dgv4312n71 2 131763066 132014938 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875108,nsv875117 M 6533 0 2 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,TUBA3D,WTH3DI MS12103,SP53933 dgv4313n71 2 131763066 132083618 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875112,nsv875109,nsv875114 M 6533 3 0 CCDC74A,LOC150776,LOC389043,LOC401010,LOC440910,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI IS30332,IS33726,IS35667 nsv875110 2 131764949 131821759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502182 S 6533 0 1 LOC440910 SP50900 esv23311 2 131779952 131787221 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20354 S 451 0 1 "" NA12044 esv27354 2 131788940 131836985 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15237,esv14794,esv17412 M 451 1 5 WTH3DI NA12776,NA18508,NA18858,NA18909,NA18916,NA19225 nsv520930 2 131793849 131951456 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697694 S 2026 1 0 LOC389043,LOC401010,TUBA3D,WTH3DI nsv818082 2 131793849 131951456 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415617 S 112 1 0 LOC389043,LOC401010,TUBA3D,WTH3DI NA19140 dgv476n27 2 131793849 132014938 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459385,nsv459374 M 1557 0 2 CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,TUBA3D,WTH3DI HGDP00460,HGDP00986 nsv459396 2 131793849 132014938 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536144 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,TUBA3D,WTH3DI HGDP01067 nsv470486 2 131793849 132014938 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547251,nssv547253,nssv547252 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,TUBA3D,WTH3DI HGDP00452,HGDP00460,HGDP00986 nsv875115 2 131793849 132291370 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543036 S 6533 1 0 C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI MS16032 esv34704 2 131797582 132152903 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990207,essv6986555,essv6978197,essv6978196,essv6978195 M 771 1 0 CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI NA18976 essv2396 2 131797582 132193560 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI NA18976 dgv1257e1 2 131799777 132332773 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4483,essv19013,essv9827 M 271 0 0 C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI NA12005,NA18552,NA18863 essv1836 2 131799777 132713504 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30BL,C2orf27A,C2orf27B,CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI NA18976 nsv875116 2 131801016 131917938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560669,nssv1591552 M 6533 0 2 LOC389043,LOC401010,WTH3DI IS38987,MS24624 esv2421328 2 131809502 131812909 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5097441,essv5028504,essv5033270,essv5106572,essv5129040,essv5156851,essv5154781,essv5145075,essv5068516,essv5054952,essv5039303,essv5107221,essv5148567,essv5093125,essv5160214,essv5052987,essv5134136,essv5125897,essv5125633,essv5065498,essv5153642,essv5036848,essv5114987,essv5015592,essv5094037,essv5157215,essv5059278,essv5040256,essv5027758,essv5041670,essv5103245,essv5138719,essv5109790,essv5083598,essv5010812,essv5115577,essv5075828,essv5094918,essv5144649,essv5142418,essv5098048,essv5022774,essv5137812,essv5155127,essv5147320,essv5146863,essv5135389,essv5100804,essv5148011,essv5021979,essv5011303,essv5146275 M 1184 0 52 "" NA18508,NA18916,NA18924,NA18930,NA19044,NA19095,NA19098,NA19102,NA19118,NA19149,NA19151,NA19182,NA19183,NA19239,NA19327,NA19328,NA19332,NA19373,NA19380,NA19381,NA19384,NA19403,NA19428,NA19430,NA19431,NA19451,NA19455,NA19471,NA19700,NA19702,NA19708,NA20295,NA20342,NA20348,NA21308,NA21320,NA21365,NA21366,NA21379,NA21454,NA21455,NA21473,NA21476,NA21509,NA21513,NA21520,NA21523,NA21597,NA21613,NA21614,NA21686,NA21768 nsv441784 2 131809502 131812910 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514978 2 131809552 131812800 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628481 S 1414 0 0 "" nsv522712 2 131814612 131877774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698342 S 2026 1 0 LOC389043,WTH3DI nsv459407 2 131814612 131905221 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536152 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC389043,WTH3DI HGDP00670 dgv4314n71 2 131821759 132083618 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875118,nsv875121 M 6533 2 0 CCDC74A,LOC150776,LOC389043,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D,WTH3DI IS30143,IS40823 nsv875119 2 131846026 131903442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521127,nssv1560871,nssv1532029 M 6533 0 3 LOC389043 MS10699,MS24738,SP52224 nsv875120 2 131846026 131955994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501439 S 6533 0 1 LOC389043,LOC401010,TUBA3D SP50900 nsv10181 2 131861281 131866977 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12000,nssv29079 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 essv7878 2 131882678 131980182 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC150776,LOC401010,MIR4784,MZT2A,TUBA3D NA19140 dgv1258e1 2 131896337 132173079 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12846,essv2478,essv23956 M 271 0 0 CCDC74A,LOC150776,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D NA12814,NA18999,NA19120 nsv834376 2 131900566 132069288 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442231,nssv1442230 M 95 2 0 CCDC74A,LOC150776,LOC401010,MIR4784,MZT2A,POTEKP,TUBA3D nsv438370 2 131903442 131943533 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471107 S 269 0 1 Samples from several populations that are part of the HapMap project. LOC401010 NA19140 nsv10182 2 131924880 131928253 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28405 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv507032 2 131929973 131935973 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623350,nssv620729 M 4 2 0 "" NA15510,NA18994 esv27653 2 131938233 131941074 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14019 S 451 0 6 "" NA18502,NA18505,NA19099,NA19114,NA19147,NA19190 nsv442834 2 131938478 131942838 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv10183 2 131947830 131951878 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11564 S 31 0 1 Samples from several populations that are part of the HapMap project. TUBA3D NA18517 nsv10185 2 131974448 132020200 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29110,nssv12023,nssv12030,nssv28738 M 31 1 3 Samples from several populations that are part of the HapMap project. CCDC74A,LOC150776 NA12740,NA18504,NA18972,NA19221 nsv2926 2 131978043 132012366 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3028 S 9 1 0 CCDC74A,LOC150776 NA18555 dgv1259e1 2 131995051 132173079 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3901,essv24222,essv9231,essv19628,essv13484,essv10221,essv17249,essv14183 M 271 0 0 CCDC74A,LOC150776,POTEKP NA10856,NA12155,NA18503,NA18994,NA19128,NA19140,NA19152,NA19192 dgv1260e1 2 131995051 132430916 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11636,essv14966,essv14726,essv24724,essv20969,essv19521,essv5493,essv5097,essv11760,essv158 M 271 0 0 C2orf27A,C2orf27B,CCDC74A,LOC150776,POTEKP NA11829,NA12801,NA12864,NA18504,NA18577,NA18632,NA18870,NA18968,NA19154,NA19159 nsv520855 2 132014938 132027558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678416,nssv676382 M 2026 0 2 "" nsv10186 2 132021483 132235993 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28625,nssv29186,nssv12143,nssv29139,nssv28258,nssv29170,nssv28286,nssv12053,nssv11618,nssv28692,nssv28158,nssv28445,nssv28208,nssv28776,nssv29109,nssv28713,nssv29200,nssv12083,nssv27917,nssv29244,nssv11648,nssv12173,nssv11511,nssv28836,nssv29216,nssv28255,nssv27278,nssv11481,nssv28806,nssv28485,nssv29169,nssv28665,nssv29140 M 31 0 17 Samples from several populations that are part of the HapMap project. C2orf27A,POTEKP NA07048,NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18504,NA18552,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173 esv28724 2 132026419 132060430 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20262,esv10502 M 451 0 8 "" NA07045,NA12044,NA12776,NA18858,NA18861,NA18909,NA19190,NA19225 nsv524987 2 132027558 132039481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701016 S 2026 0 1 "" nsv2927 2 132029507 132053290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6869 S 9 1 0 "" NA12156 esv7355 2 132038451 132055697 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29796 S 1 0 1 "" SJK esv2002769 2 132051545 132051998 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895996 S 1 0 1 "" NA18507 esv4927 2 132051646 132051892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27368 S 1 0 1 Single Asian sample YH "" YH esv1508446 2 132051695 132051801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705127 S 2 0 1 "" HuRef essv4317 2 132070949 132186510 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. POTEKP NA18564 essv19805 2 132073944 132079979 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. POTEKP NA12864 nsv820012 2 132081769 132207560 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418778 S 2 0 1 C2orf27A,POTEKP AK1 nsv834377 2 132085363 132252375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442235,nssv1442233,nssv1442234,nssv1442236,nssv1442237,nssv1442238,nssv1442232 M 95 7 0 C2orf27A,POTEKP esv24587 2 132110615 132228203 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13998,esv15738,esv12336,esv16548 M 451 5 16 C2orf27A NA07037,NA07045,NA11995,NA12044,NA12156,NA12287,NA12776,NA15510,NA18502,NA18858,NA18861,NA18907,NA18909,NA18916,NA19129,NA19190,NA19225 nsv821714 2 132117874 132120047 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434272 S 31 0 1 "" NA18570 esv33695 2 132119535 132119831 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99540 S 51 0 1 "" 22335 nsv875122 2 132135589 132197051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504730 S 6533 0 1 C2orf27A SP52717 essv19479 2 132136416 132187307 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12750 nsv821715 2 132150376 132179508 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424867 S 31 0 1 "" NA18947 nsv527590 2 132150587 132213684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704051 S 2026 0 1 C2orf27A nsv471420 2 132196534 132241447 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548230,nssv548231,nssv548229 M 3 C2orf27A nsv482054 2 132196534 132241447 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558415 S 1 1 0 C2orf27A KB1 nsv514979 2 132207584 132225976 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628482 S 1414 0 0 C2orf27A esv26126 2 132237768 132269821 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21249 S 451 1 0 C2orf27A,C2orf27B NA06985 essv5371 2 132247363 132430916 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C2orf27B NA18563 essv4862 2 132247363 132713504 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30BL,C2orf27B NA18540 esv1344379 2 132265186 132265284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176829 S 2 0 1 "" HuRef esv1089236 2 132265377 132265377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757284 S 2 1 0 "" HuRef nsv482055 2 132269004 132275704 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558416 S 1 1 0 C2orf27B KB1 nsv7328 2 132269580 132280600 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6870 S 9 0 0 C2orf27B NA12156 nsv875123 2 132281443 132843545 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592599 S 6533 1 0 ANKRD30BL,MIR663B IS39243 esv32919 2 132293909 132311533 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100077 S 51 1 0 "" 22086 nsv10187 2 132300605 132317149 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12060 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv875124 2 132311733 132420283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544076 S 6533 0 1 "" MS16242 dgv1261e1 2 132394524 132713504 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23483,essv19289 M 271 0 0 ANKRD30BL NA07034,NA10838 essv21727 2 132394524 132914473 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30BL,GPR39,MIR663B NA12248 nsv875125 2 132449751 132543443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515171 S 6533 0 1 "" SP56132 nsv875126 2 132449751 132652874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538789 S 6533 1 0 ANKRD30BL MS13770 nsv526029 2 132449751 133067885 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702260 S 2026 1 0 ANKRD30BL,GPR39,MIR663B nsv875127 2 132468482 132597886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506377 S 6533 1 0 "" SP54225 nsv875128 2 132485521 132597886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556831 S 6533 0 1 "" MS22212 nsv875129 2 132485521 132652874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505437 S 6533 0 1 ANKRD30BL SP53490 esv32851 2 132489782 132765542 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101462,essv98788,essv97517,essv94356,essv96997,essv95724,essv99002,essv97198,essv99957,essv98025,essv98027 M 51 10 1 ANKRD30BL,MIR663B 21603,21606,21616,21808,21817,21841,21938,22075,22086,22259 nsv10188 2 132509801 132513343 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12203 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv507033 2 132511934 132517934 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620730,nssv621665 M 4 2 0 "" NA10860,NA15510 esv1594053 2 132512648 132512753 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752094 S 2 0 1 "" HuRef esv995328 2 132512654 132512758 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580442 S 3 0 1 "" HuRef esv2448107 2 132535267 132676936 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309785 S 1 0 1 ANKRD30BL NA18507 esv2105083 2 132543757 132544195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685693 S 1 0 1 "" NA18507 essv899 2 132561366 132713504 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30BL NA19000 nsv875130 2 132567514 132647102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508647 S 6533 0 1 ANKRD30BL SP54587 dgv4315n71 2 132567514 132700882 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875132,nsv875131 M 6533 2 0 ANKRD30BL SP54043,SP81003 nsv10189 2 132604361 132607819 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11487 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv875133 2 132629645 132764343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590466 S 6533 1 0 ANKRD30BL,MIR663B IS38515 esv25933 2 132635362 132764103 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19836,esv19905,esv13529,esv14451,esv17182 M 451 19 0 ANKRD30BL,MIR663B NA06985,NA11931,NA12156,NA12414,NA12828,NA18505,NA18508,NA18511,NA18517,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225 essv1359 2 132668884 132859586 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD30BL,MIR663B NA19007 nsv10190 2 132672267 132726460 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28784,nssv12233 M 31 2 0 Samples from several populations that are part of the HapMap project. ANKRD30BL NA18563,NA18972 nsv10191 2 132682416 132764344 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11473,nssv28732,nssv29199,nssv28308,nssv11594,nssv28100,nssv28099,nssv28866,nssv28232,nssv28394,nssv28000,nssv29230,nssv12090,nssv28336,nssv28525,nssv28305,nssv11678,nssv28791,nssv12263,nssv28753,nssv28386,nssv27398 M 31 19 1 Samples from several populations that are part of the HapMap project. ANKRD30BL,MIR663B NA07029,NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18572,NA18853,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221 nsv819534 2 132696919 132763519 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418911 S 2 1 0 ANKRD30BL,MIR663B AK1 esv2511278 2 132698942 132711639 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234722 S 1 1 0 ANKRD30BL NA18507 esv2513311 2 132711639 132720147 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212883 S 1 1 0 ANKRD30BL NA18507 nsv820317 2 132719667 132766153 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420262 S 1 1 0 ANKRD30BL,MIR663B NA10851 nsv821716 2 132719667 132766153 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428123,nssv1439296,nssv1426495,nssv1438530,nssv1438676,nssv1435739,nssv1425595,nssv1424880,nssv1434273,nssv1422466,nssv1434953,nssv1431911,nssv1427361 M 31 13 0 ANKRD30BL,MIR663B AK10,AK20,AK4,AK6,AK8,NA18547,NA18552,NA18566,NA18570,NA18592,NA18942,NA18947,NA18973 esv2466772 2 132720147 132728031 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389043 S 1 1 0 ANKRD30BL NA18507 dgv666n67 2 132724593 132763067 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821720,nsv821717,nsv821719,nsv821718,nsv821725,nsv821724,nsv821723,nsv821722,nsv821726,nsv821727 M 31 14 0 ANKRD30BL,MIR663B AK12,AK14,AK16,AK18,NA18537,NA18542,NA18582,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv2928 2 132727763 132757216 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10238 S 9 1 0 ANKRD30BL,MIR663B NA18956 esv2583265 2 132728031 132755818 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344107 S 1 1 0 ANKRD30BL,MIR663B NA18507 nsv819671 2 132731564 132739698 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419856 S 2 1 0 ANKRD30BL AK1 dgv89e180 2 132732058 132758822 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009587,esv1005141 M 3 1 0 "" HuRef esv5957 2 132733876 132735138 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28398 S 1 0 1 "" SJK esv3850 2 132740179 132745564 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26291 S 1 0 0 Single Asian sample YH "" YH esv2480451 2 132740437 132740510 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196354 S 1 0 1 "" NA18507 esv2651916 2 132740580 132740794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240548 S 1 0 1 "" NA18507 esv2478368 2 132740863 132740966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219626 S 1 0 1 "" NA18507 esv2485169 2 132740883 132740938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197696 S 1 0 1 "" NA18507 esv2526560 2 132740977 132741396 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208951 S 1 0 1 "" NA18507 esv2466405 2 132741124 132741266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215697 S 1 0 1 "" NA18507 esv5542 2 132741138 132744641 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27983 S 1 0 1 "" SJK esv2599672 2 132741235 132741378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186178 S 1 0 1 "" NA18507 esv2606180 2 132741245 132741510 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246988 S 1 0 1 "" NA18507 esv2561330 2 132743468 132743840 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233616 S 1 0 1 "" NA18507 esv2517797 2 132743522 132743991 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209494 S 1 0 1 "" NA18507 esv2468590 2 132743592 132743845 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276975 S 1 0 1 "" NA18507 esv2593664 2 132743678 132743768 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360171 S 1 0 1 "" NA18507 esv3100 2 132744197 132745441 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25541 S 1 0 0 Single Asian sample YH "" YH esv2446590 2 132744311 132744621 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267368 S 1 0 1 "" NA18507 esv5625 2 132744339 132744807 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28066 S 1 0 1 "" SJK esv2567367 2 132744376 132751370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242049 S 1 0 1 "" NA18507 esv2559273 2 132744514 132744913 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214722 S 1 0 1 "" NA18507 esv2426771 2 132744744 132744968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188405 S 1 0 1 "" NA18507 esv2579378 2 132744893 132745096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373255 S 1 0 1 "" NA18507 esv5508 2 132745243 132745707 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27949 S 1 0 1 "" SJK esv2526792 2 132745408 132745817 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377529 S 1 0 1 "" NA18507 esv6833 2 132745753 132745843 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29274 S 1 1 0 "" SJK esv4378 2 132745846 134322999 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26819 S 1 0 0 Single Asian sample YH GPR39,LYPD1,NCKAP5 YH esv2432861 2 132748511 132748565 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217893 S 1 0 1 "" NA18507 esv5515 2 132750974 132751066 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27956 S 1 1 0 "" SJK nsv821728 2 132753415 132755573 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433523,nssv1424836,nssv1440225 M 31 3 0 "" AK2,NA18526,NA18564 esv2556319 2 132755818 132783758 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375341 S 1 1 0 "" NA18507 esv9434 2 132756061 132761994 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31875 S 1 0 1 "" SJK nsv213663 2 132759518 132767427 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232241 M 24 "" nsv875134 2 132759874 132843545 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522368 S 6533 1 0 "" SP52933 nsv875135 2 132783206 132875392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519892 S 6533 1 0 "" SP50604 esv7760 2 132832013 132832267 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30201 S 1 0 1 "" SJK nsv2929 2 132864232 132893330 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1538 S 9 1 0 GPR39 NA19240 esv26499 2 132867944 132868799 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12529 S 451 0 2 "" NA18511,NA18916 nsv820350 2 132867944 132868799 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420263 S 1 0 1 "" NA10851 esv1528790 2 132868363 132868454 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060226 S 2 0 1 "" HuRef esv1189185 2 132868770 132868770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211334 S 2 1 0 "" HuRef esv22605 2 132868909 132869799 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14075 S 451 0 2 "" NA18502,NA18909 nsv875136 2 132883733 132925067 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519893 S 6533 1 0 GPR39 SP50604 nsv875137 2 132883733 133430612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523909 S 6533 1 0 GPR39,LYPD1,NCKAP5 SP54275 nsv834378 2 132886266 133065876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442241,nssv1442239 M 95 0 2 GPR39 nsv10192 2 132895951 132897764 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11503 S 31 0 1 Samples from several populations that are part of the HapMap project. GPR39 NA18504 nsv471734 2 132896407 132897517 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646015 M 0.043 95 GPR39 esv22729 2 132896466 132897365 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18166 S 451 0 2 GPR39 NA18523,NA19147 nsv459429 2 132925067 132969856 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536166 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR39 HGDP00998 nsv508106 2 132955407 132961407 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618549,nssv622004 M 4 0 2 GPR39 CHM,NA10860 esv24608 2 132962778 132964931 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16350 S 451 0 2 GPR39 NA19108,NA19114 dgv1262e1 2 132984317 133030315 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9288,esv1371 M 271 0 0 GPR39 NA19137 dgv228n21 2 132989478 133026707 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528704,nsv515839 M 2026 9 0 GPR39 dgv34n64 2 132994153 133025106 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818084,nsv818083 M 112 3 0 GPR39 NA19160,NA19161,NA19239 dgv1263e1 2 132995161 133030315 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13942,essv13116,essv9534,essv7903,essv11460,essv8082 M 271 0 0 GPR39 NA18856,NA18859,NA19160,NA19161,NA19223,NA19239 nsv10193 2 132996288 133025418 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11541,nssv12150,nssv11533 M 31 3 0 Samples from several populations that are part of the HapMap project. GPR39 NA18504,NA18860,NA19221 esv259482 2 132997018 133025328 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394051 S 6 0 0 Samples from several populations that are part of the HapMap project. GPR39 NA19239 esv259844 2 132997020 133025339 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399904,essv2396585,essv2400651,essv2396139,essv2399923,essv2398207,essv2397069 M 144 0 0 Samples from several populations that are part of the HapMap project. GPR39 NA18504,NA18507,NA18510,NA18523,NA18856,NA18909,NA19239 esv29562 2 132997154 133025076 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12432 S 451 2 0 GPR39 NA18523,NA18909 esv2422046 2 132997170 133025106 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5080471,essv5105897,essv5070079,essv5012012,essv5068196,essv5013542,essv5160138,essv5140971,essv5046358,essv5080389,essv5014052,essv5150272,essv5142391,essv5079689,essv5009569,essv5132715,essv5038405,essv5027545,essv5053286,essv5068221,essv5032082,essv5026403,essv5074941,essv5039422,essv5120012,essv5010862,essv5139863,essv5010539,essv5015652,essv5131032,essv5018073,essv5050660,essv5034184,essv5032566,essv5033129 M 1184 35 0 GPR39 NA12045,NA18485,NA18489,NA18504,NA18507,NA18510,NA18612,NA18859,NA18860,NA18867,NA18869,NA18909,NA18911,NA19127,NA19137,NA19146,NA19148,NA19160,NA19161,NA19175,NA19221,NA19223,NA19239,NA19313,NA19315,NA19332,NA19372,NA19381,NA19439,NA19704,NA19908,NA20287,NA20288,NA20289,NA20290 nsv433356 2 132997360 133025106 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463237 S 9 1 0 Samples from several populations that are part of the HapMap project. GPR39 NA18507 nsv459441 2 132997360 133026707 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536178 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR39 HGDP00931 nsv442835 2 132997802 133000736 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GPR39 dgv1264e1 2 132999346 133018727 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9508,essv7997,essv11373,essv16584 M 271 0 0 GPR39 NA18521,NA18860,NA19127,NA19221 nsv2930 2 133017567 133020897 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9578 S 9 1 0 GPR39 NA18507 nsv10194 2 133032707 133047960 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12293,nssv28705 M 31 0 2 Samples from several populations that are part of the HapMap project. GPR39 NA18552,NA18972 nsv213758 2 133038875 133039439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232336 M 24 GPR39 esv28074 2 133067864 133068530 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20312 S 451 0 1 GPR39 NA12239 nsv875138 2 133127391 133478264 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580649 S 6533 1 0 LYPD1,NCKAP5 IS35411 nsv834379 2 133188450 133382071 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442242 S 95 1 0 NCKAP5 nsv441785 2 133189998 133193035 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NCKAP5 nsv821729 2 133190035 133193111 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422467 S 31 0 1 NCKAP5 NA18552 nsv2931 2 133342288 133387433 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7555 S 9 0 1 NCKAP5 NA12156 esv7088 2 133363546 133364664 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29529 S 1 0 1 NCKAP5 SJK esv26071 2 133388658 133391253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11729 S 451 0 1 NCKAP5 NA12878 nsv834381 2 133439141 133614464 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442243,nssv1442244 M 95 2 0 NCKAP5 nsv834382 2 133444869 133607888 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442245 S 95 0 1 NCKAP5 nsv528037 2 133489051 133490923 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704569 S 2026 1 0 NCKAP5 nsv875139 2 133494336 133645695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539973 S 6533 0 1 NCKAP5 MS14637 nsv470487 2 133528312 133591982 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547254 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCKAP5 HGDP00656 nsv875140 2 133532954 133621299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519404 S 6533 0 1 NCKAP5 SP81015 nsv521538 2 133546849 133569271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698154 S 2026 0 1 NCKAP5 nsv459452 2 133557478 133591982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536189 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCKAP5 HGDP00656 esv2592119 2 133589604 133591096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218200 S 1 0 1 NCKAP5 NA18507 esv2340909 2 133590060 133590764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852222 S 1 0 1 NCKAP5 NA18507 esv3903 2 133590163 133590637 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26344 S 1 0 1 Single Asian sample YH NCKAP5 YH esv998316 2 133590237 133590558 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575108 S 3 0 1 NCKAP5 HuRef esv8474 2 133590241 133590561 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30915 S 1 0 1 NCKAP5 SJK nsv834383 2 133590727 133623236 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442248,nssv1442247,nssv1442246 M 95 0 3 NCKAP5 nsv459463 2 133622455 133649932 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536200 S 1557 0 1 NCKAP5 1780862575_A esv269749 2 133632946 133633280 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523200,essv2531740,essv2529245,essv2565265,essv2551662,essv2578782,essv2523746,essv2541451,essv2538395,essv2542871,essv2524705,essv2539823,essv2549226,essv2559973,essv2522309,essv2532627,essv2567840,essv2567444,essv2570119,essv2563854,essv2528033,essv2578236,essv2573092,essv2533614,essv2530092,essv2534327,essv2522351,essv2531617,essv2525658,essv2572773,essv2536296 M 157 31 0 Samples from several populations that are part of the HapMap project. NCKAP5 NA06986,NA12004,NA12006,NA12749,NA12812,NA18504,NA18510,NA18537,NA18545,NA18547,NA18550,NA18555,NA18563,NA18564,NA18570,NA18571,NA18576,NA18577,NA18582,NA18593,NA18603,NA18907,NA18940,NA18942,NA18944,NA18949,NA18959,NA18960,NA18961,NA18980,NA19143 nsv526139 2 133668014 133668510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702394 S 2026 0 1 NCKAP5 nsv516915 2 133716301 133771132 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682704,nssv674564,nssv680710,nssv654957,nssv679899,nssv657663 M 2026 6 0 NCKAP5 nsv834384 2 133721699 133905118 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442249 S 95 1 0 NCKAP5 nsv2933 2 133722654 133756449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4461 S 9 1 0 NCKAP5 NA12878 nsv522324 2 133802135 133890502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695105 S 2026 0 1 NCKAP5 nsv508871 2 133928263 133986726 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621177 S 4 1 0 NCKAP5 NA15510 nsv507034 2 133974910 133980910 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617570,nssv621666,nssv623351 M 4 3 0 NCKAP5 CHM,NA10860,NA18994 nsv516644 2 134017600 134107684 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700669,nssv669832,nssv679002 M 2026 2 1 NCKAP5 nsv507035 2 134059838 134065838 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623352 S 4 1 0 "" NA18994 nsv2934 2 134084948 134128924 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7556 S 9 0 1 "" NA12156 esv3239 2 134100368 134100653 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25680 S 1 0 1 Single Asian sample YH "" YH esv2226994 2 134111443 134111867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934344 S 1 0 1 "" NA18507 esv24460 2 134139959 134142555 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20489 S 451 0 1 "" NA19099 esv2606759 2 134176076 134177721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241447 S 1 0 1 "" NA18507 esv2056503 2 134176546 134177243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545081 S 1 0 1 "" NA18507 esv4172 2 134176666 134177202 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26613 S 1 0 1 Single Asian sample YH "" YH esv5507 2 134176696 134177050 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27948 S 1 0 1 "" SJK esv2530745 2 134176737 134177043 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161999 S 1 0 1 "" NA18507 esv1137533 2 134176749 134177056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001176 S 2 0 1 "" HuRef nsv821730 2 134243020 134244443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424892 S 31 0 1 "" NA18947 esv2565133 2 134260495 134262040 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316823 S 1 0 1 "" NA18507 esv2388793 2 134260543 134261287 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816082 S 1 0 1 "" NA18507 esv4311 2 134260674 134261253 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26752 S 1 0 1 Single Asian sample YH "" YH nsv214115 2 134260745 134261076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232693 M 24 "" esv7093 2 134260755 134261075 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29534 S 1 0 1 "" SJK nsv2935 2 134335554 134369059 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7557 S 9 1 0 "" NA12156 nsv526400 2 134367696 134375955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702699 S 2026 0 1 "" nsv2936 2 134375915 134391580 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9579 S 9 1 0 "" NA18507 dgv4316n71 2 134450960 134504506 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875142,nsv875141,nsv875143 M 6533 0 6 "" MS14940,MS21036,MS25223,SP55424,SP58168,SP81432 nsv519774 2 134462172 134469526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697043 S 2026 0 1 "" nsv520254 2 134465053 134469526 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662123,nssv699232,nssv681955 M 2026 0 3 "" esv1085963 2 134482089 134482149 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973264 S 2 0 1 "" HuRef esv2018703 2 134483753 134484184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654995 S 1 0 1 "" NA18507 esv1681940 2 134484016 134484116 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139989 S 2 0 1 "" HuRef nsv875144 2 134533486 134609917 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551656 S 6533 1 0 MIR3679 MS18966 nsv521314 2 134577869 134579148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697920 S 2026 0 1 "" nsv875145 2 134592519 134671680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596287 S 6533 1 0 MIR3679 IS40482 nsv508168 2 134603673 134694011 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618695,nssv620191 M 4 0 2 "" NA10860,NA15510 nsv2937 2 134607473 134640027 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6871 S 9 1 0 "" NA12156 nsv2938 2 134654933 134719844 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10239,nssv6872,nssv4462,nssv2295 M 9 0 4 "" NA12156,NA12878,NA18555,NA18956 esv998488 2 134681926 134686935 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564333 S 3 0 1 "" HuRef esv2587407 2 134682513 134687343 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214396 S 1 0 1 "" NA18507 dgv66n16 2 134682607 134687609 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436301,nsv435716 M 2 0 2 "" NA15510,NA18505 esv2157606 2 134682983 134686823 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962288 S 1 0 1 "" NA18507 nsv511814 2 134683025 134686741 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626467 S 1 0 1 "" 1 esv2995 2 134683156 134686684 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25436 S 1 0 1 Single Asian sample YH "" YH nsv498935 2 134683170 134686618 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585796 S 9 0 1 "" esv993229 2 134683174 134686603 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569318 S 3 0 1 "" HuRef esv5977 2 134683185 134686595 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28418 S 1 0 1 "" SJK nsv2939 2 134694369 134726388 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10240 S 9 1 0 "" NA18956 nsv522332 2 134702384 134705895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695112 S 2026 0 1 "" esv1509664 2 134711744 134711808 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060170 S 2 0 1 "" HuRef nsv214814 2 134711785 134711849 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233392 M 24 "" dgv667n67 2 134739709 134741522 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821731,nsv821733 M 31 0 2 MGAT5 AK16,NA18592 nsv834385 2 134787676 134973057 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442250 S 95 1 0 LOC151162,MGAT5,TMEM163 nsv508107 2 134913185 134919185 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622005,nssv624281,nssv618550 M 4 0 3 MGAT5 CHM,NA10860,NA18994 esv268736 2 134918683 134918768 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517151 S 157 1 0 Samples from several populations that are part of the HapMap project. MGAT5 hapmap_pooled_sample_set esv9502 2 134977124 134978603 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31943 S 1 0 1 TMEM163 SJK esv24078 2 135080735 135084050 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14973 S 451 1 1 TMEM163 NA19108,NA19129 nsv821400 2 135080735 135084050 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420264 S 1 0 1 TMEM163 NA10851 esv1185737 2 135081305 135081305 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043236 S 2 1 0 TMEM163 HuRef esv1203818 2 135081729 135083408 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892274 S 2 0 1 TMEM163 HuRef esv1198411 2 135083417 135083655 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957645 S 2 0 1 TMEM163 HuRef esv2595055 2 135086737 135088128 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213056 S 1 0 1 TMEM163 NA18507 esv275016 2 135276420 135287272 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585880,essv2586102 M 1250 1 1 "" esv1400183 2 135308850 135308926 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990132 S 2 0 1 "" HuRef esv268160 2 135362632 135362980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509043,essv2500951,essv2506649 M 157 3 0 Samples from several populations that are part of the HapMap project. ACMSD,LOC100129961 NA18522,NA18856,NA19108 nsv834386 2 135584921 135697855 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442252 S 95 1 0 RAB3GAP1,ZRANB3 nsv875146 2 135748523 135828593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509450 S 6533 0 1 ZRANB3 SP54792 nsv875147 2 135763071 135801777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503047 S 6533 0 1 ZRANB3 SP51481 esv34026 2 135766452 136254422 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MIR128-1,R3HDM1,UBXN4,ZRANB3 nsv2940 2 135780335 135819288 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1539 S 9 0 1 ZRANB3 NA19240 esv2467285 2 135814464 135818826 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389416 S 1 0 1 ZRANB3 NA18507 esv2058333 2 135814629 135818208 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829171 S 1 0 1 ZRANB3 NA18507 nsv498936 2 135814810 135818044 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585797 S 9 0 1 ZRANB3 esv2421388 2 135814903 135818276 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5148602,essv5099401,essv5113016,essv5068257,essv5131784,essv5101989,essv5090046,essv5028555,essv5127636,essv5054329,essv5032328,essv5106722,essv5077270,essv5116593,essv5041150,essv5105073,essv5145090,essv5082784,essv5040273,essv5041750,essv5005921,essv5059848,essv5017279,essv5020364,essv5006282,essv5141260,essv5119513,essv5052107,essv5068719,essv5105937,essv5106829,essv5142920,essv5129301,essv5113394,essv5139556,essv5159976,essv5093007,essv5030688,essv5019181,essv5025026,essv5081606,essv5075381,essv5161012,essv5117496,essv5092005,essv5019626,essv5160239,essv5036199,essv5132509,essv5093657,essv5088497,essv5073968,essv5020137,essv5097591,essv5018839,essv5089380,essv5084553,essv5028191,essv5156694,essv5106913,essv5053804,essv5053464,essv5067514,essv5145926,essv5119726,essv5024599,essv5080623,essv5090234,essv5008557,essv5103774,essv5134483,essv5095185,essv5129742,essv5140629,essv5083103,essv5035087,essv5036151,essv5114272,essv5121288,essv5050536,essv5012403,essv5043471,essv5007455,essv5093469,essv5115222,essv5125510,essv5130646,essv5133524,essv5069778,essv5013673,essv5150271,essv5063042,essv5027992,essv5075440,essv5131610,essv5140668,essv5125991,essv5063101,essv5160442,essv5100844,essv5127557,essv5076966,essv5085395,essv5126239,essv5022589,essv5076264,essv5069847,essv5030265,essv5054713 M 1184 0 109 ZRANB3 NA18484,NA18488,NA18497,NA18498,NA18506,NA18507,NA18508,NA18510,NA18518,NA18519,NA18520,NA18852,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18909,NA18910,NA18911,NA18917,NA18924,NA18930,NA18933,NA18935,NA19096,NA19097,NA19098,NA19102,NA19103,NA19107,NA19116,NA19117,NA19120,NA19127,NA19129,NA19138,NA19139,NA19144,NA19171,NA19172,NA19173,NA19175,NA19179,NA19180,NA19181,NA19182,NA19183,NA19193,NA19194,NA19197,NA19199,NA19200,NA19203,NA19207,NA19208,NA19214,NA19221,NA19222,NA19223,NA19224,NA19226,NA19235,NA19237,NA19239,NA19240,NA19247,NA19314,NA19372,NA19381,NA19396,NA19404,NA19436,NA19438,NA19449,NA19463,NA19466,NA19467,NA19472,NA19701,NA19702,NA19704,NA19908,NA19914,NA19915,NA19917,NA19982,NA20281,NA20287,NA20290,NA20333,NA20334,NA20335,NA20336,NA20337,NA20342,NA20350,NA20357,NA20358,NA20360,NA21379,NA21573,NA21577,NA21768,NA21776 esv29203 2 135815887 135818136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16843 S 451 0 6 ZRANB3 NA18502,NA18508,NA18861,NA18907,NA18909,NA19129 nsv514095 2 135817248 135817872 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627142 S 1414 0 1 ZRANB3 nsv2941 2 135873179 135907382 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4463 S 9 1 0 ZRANB3 NA12878 esv268290 2 135875170 135875372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511759,essv2493253,essv2505716 M 157 3 0 Samples from several populations that are part of the HapMap project. ZRANB3 NA18499,NA18504,NA18861 nsv441786 2 135909249 135949021 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZRANB3 esv2410901 2 135939150 135939581 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957800 S 1 0 1 ZRANB3 NA18507 nsv819183 2 136225965 136235905 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418585 S 2 0 1 UBXN4 AK1 nsv821734 2 136257160 136258912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438541 S 31 0 1 UBXN4 NA18547 nsv819525 2 136270788 136272559 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419321 S 2 1 0 LCT AK1 nsv2942 2 136297166 136310796 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3029 S 9 1 0 LCT NA18555 esv2032582 2 136336122 136336584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885166 S 1 0 1 MCM6 NA18507 nsv214727 2 136577327 136579835 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233305 M 24 "" nsv523997 2 136584346 136937213 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699857 S 2026 1 0 CXCR4 esv269177 2 136595502 136595763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522667,essv2556599,essv2545569,essv2523150,essv2554277,essv2552002,essv2558265,essv2544805,essv2553037,essv2542825,essv2540356,essv2524655,essv2565122,essv2534530,essv2539772,essv2549312,essv2522193,essv2531124,essv2532569,essv2541513,essv2569875,essv2553456,essv2535888,essv2572291,essv2578377,essv2573158,essv2555293,essv2555517,essv2566554,essv2529871,essv2573841,essv2527541,essv2557678,essv2555956,essv2534295,essv2531438,essv2573380,essv2543389,essv2573310,essv2525561,essv2548970 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11931,NA11994,NA12003,NA12004,NA12287,NA12489,NA12750,NA18526,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18571,NA18573,NA18576,NA18592,NA18593,NA18605,NA18608,NA18609,NA18940,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18969,NA18980 esv26371 2 136687447 136688961 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20077 S 451 0 1 "" NA18907 nsv834387 2 136692307 136801692 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442253,nssv1442254 M 95 0 2 "" nsv508108 2 136817436 136823436 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618551,nssv624282,nssv621532 M 4 0 3 "" CHM,NA15510,NA18994 nsv834388 2 136826757 137002206 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442255 S 95 0 1 "" nsv512780 2 136872195 136873222 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625412 S 1 1 0 "" 1 nsv518597 2 136884133 136890041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696044 S 2026 0 1 "" nsv515555 2 136886621 136890041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677613,nssv663892 M 2026 0 2 "" dgv1265e1 2 136914260 136956774 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5008,esv1050 M 271 0 0 "" NA18571 nsv821735 2 136983269 136989524 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426498 S 31 0 1 "" AK6 nsv215286 2 137004709 137004773 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233864 M 24 "" esv269356 2 137142591 137143253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516815,essv2517011,essv2514112,essv2514934,essv2515691 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12043,NA12812,NA12815 esv1231415 2 137160397 137160455 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087692 S 2 0 1 "" HuRef nsv875148 2 137190612 137556475 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551686 S 6533 1 0 THSD7B MS18976 esv268086 2 137225363 137225448 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514672 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 dgv4317n71 2 137259788 137316119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875149,nsv875150 M 6533 0 2 "" SP56797,SP57197 nsv516011 2 137296704 137463807 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655425,nssv665706,nssv658298 M 2026 0 3 "" nsv214504 2 137304456 137312861 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233082 M 24 "" nsv875151 2 137363478 137502253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521738 S 6533 0 1 THSD7B SP52568 esv2620711 2 137363905 137365271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163868 S 1 0 1 "" NA18507 esv1618306 2 137364344 137364414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251762 S 2 0 1 "" HuRef nsv875152 2 137379325 137512187 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580674 S 6533 1 0 THSD7B IS35422 nsv7329 2 137382225 139709573 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6874 S 9 0 0 HNMT,LOC647012,NXPH2,SPOPL,THSD7B NA12156 nsv525899 2 137401757 137484482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702103 S 2026 0 1 THSD7B esv33452 2 137406888 137407239 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100718,essv97212 M 51 2 0 "" 21656,22075 esv33945 2 137413741 137421309 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97572 S 51 0 1 "" 21616 nsv459474 2 137484018 137540890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536211 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations THSD7B HGDP01249 nsv526606 2 137502253 137531536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702926 S 2026 0 1 THSD7B nsv508169 2 137564623 137613868 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620192 S 4 0 1 THSD7B NA15510 dgv4318n71 2 137572390 137606935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875154,nsv875153 M 6533 0 2 THSD7B IS33747,MS13721 esv32614 2 137593176 137593850 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100055 S 51 0 1 THSD7B 22086 esv275211 2 137632814 137635926 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585167 S 1250 0 1 THSD7B nsv508872 2 137652753 137669545 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621178 S 4 1 0 THSD7B NA15510 esv1006423 2 137663555 137663611 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573347 S 3 0 1 THSD7B HuRef esv1756709 2 137663558 137663558 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210994 S 2 1 0 THSD7B HuRef esv1683117 2 137663558 137663615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778904 S 2 0 1 THSD7B HuRef esv2421943 2 137700117 137700731 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5040140,essv5009095,essv5044626,essv5004445,essv5110701,essv5046463,essv5043826,essv5116883,essv5131264,essv5094381,essv5013915,essv5033356,essv5014225,essv5093562,essv5097307,essv5144834,essv5144673,essv5076195,essv5099286,essv5144963,essv5108035,essv5058523,essv5130702,essv5105724,essv5078429,essv5030986 M 1184 0 26 THSD7B NA06995,NA07022,NA07435,NA11829,NA12154,NA12383,NA12872,NA19380,NA19382,NA19670,NA19671,NA19725,NA19727,NA19774,NA19818,NA20538,NA20775,NA20787,NA20796,NA20805,NA20807,NA20902,NA20904,NA21089,NA21108,NA21336 nsv2944 2 137706175 137750927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5819 S 9 0 1 THSD7B NA19129 nsv875155 2 137710436 138180227 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506297 S 6533 1 0 THSD7B SP54173 nsv521939 2 137760835 137765557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694708 S 2026 0 1 THSD7B nsv875156 2 137760835 137841404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527807 S 6533 0 1 THSD7B SP81006 esv33322 2 137782632 137789641 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98835 S 51 0 1 THSD7B 21606 nsv524693 2 137789970 137796424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700670 S 2026 0 1 THSD7B esv271476 2 137893449 137893632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518440,essv2516586,essv2515763,essv2515804 M 157 4 0 Samples from several populations that are part of the HapMap project. THSD7B NA12287,NA12814,NA12815,NA18969 esv2561082 2 137936266 137937281 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183967 S 1 1 0 THSD7B NA18507 esv271396 2 137936776 137937122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494147,essv2513021,essv2498535,essv2509363,essv2504656,essv2506445,essv2512197,essv2501985,essv2498002 M 157 9 0 Samples from several populations that are part of the HapMap project. THSD7B NA18502,NA18547,NA18858,NA18909,NA19099,NA19108,NA19238,NA19239,NA19240 esv272358 2 137936794 137937030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580101,essv2580284,essv2580033 M 7 3 0 Samples from several populations that are part of the HapMap project. THSD7B NA12878,NA12891,NA12892 nsv215433 2 137961759 137962102 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234011 M 24 THSD7B esv5744 2 137961772 137962119 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28185 S 1 0 1 THSD7B SJK esv1274201 2 137961774 137962118 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801889 S 2 0 1 THSD7B HuRef esv272939 2 137962081 137965398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581566 S 7 1 0 Samples from several populations that are part of the HapMap project. THSD7B NA12878 esv268099 2 137976240 137976567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516984,essv2515408,essv2516447,essv2517781,essv2516214,essv2516828 M 157 6 0 Samples from several populations that are part of the HapMap project. THSD7B NA11931,NA12249,NA12814,NA12878,NA12891,NA12892 esv274289 2 137976245 137976560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581684,essv2582367,essv2582905 M 7 3 0 Samples from several populations that are part of the HapMap project. THSD7B NA12878,NA12891,NA12892 esv271725 2 138045981 138046292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506292,essv2506427 M 157 2 0 Samples from several populations that are part of the HapMap project. THSD7B NA18523,NA19108 nsv875157 2 138105135 138180227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568055 S 6533 0 1 THSD7B IS31193 esv2294349 2 138206404 138207133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577761 S 1 0 1 "" NA18507 esv3719 2 138216370 138216591 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26160 S 1 0 1 Single Asian sample YH "" YH esv1244047 2 138216416 138216489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077988 S 2 0 1 "" HuRef dgv73n6 2 138216436 138216524 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv213876,nsv214104 M 24 "" nsv441787 2 138225667 138228819 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv875158 2 138229413 138398113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540225 S 6533 0 1 "" MS14752 esv5918 2 138327954 138332074 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28359 S 1 0 0 "" SJK nsv875159 2 138341976 139324417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593570 S 6533 1 0 HNMT,NXPH2,SPOPL IS39450 esv269131 2 138342322 138342586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521898,essv2528718,essv2553187,essv2572509,essv2555729,essv2530156,essv2573816,essv2556020,essv2522337,essv2573308,essv2576991 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18571,NA18579,NA18605,NA18609,NA18945,NA18949,NA18951,NA18956,NA18960,NA18969,NA18970 esv275075 2 138423062 138424156 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586134 S 1250 0 1 "" nsv875160 2 138461614 138497225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559170 S 6533 0 1 HNMT MS23768 esv34124 2 138477582 138691900 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 HNMT nsv875161 2 138478638 138504397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532642,nssv1538075 M 6533 0 2 HNMT MS10802,MS13480 esv2513921 2 138481575 138482907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286641 S 1 0 1 HNMT NA18507 nsv834389 2 138559929 138731259 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442256 S 95 1 0 "" esv2442934 2 138588576 138589948 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227521 S 1 0 1 "" NA18507 esv1403588 2 138589565 138589629 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093888 S 2 0 1 "" HuRef nsv7330 2 138680284 138764653 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6875,nssv6876,nssv1540 M 9 0 0 "" NA12156,NA19240 nsv2945 2 138695825 138740614 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7558 S 9 0 1 "" NA12156 esv1004751 2 138716245 138733825 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565649 S 3 0 0 "" HuRef nsv436671 2 138719674 138723811 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465946 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv27n50 2 138720326 138725636 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513644,nsv513643 M 1 0 0 "" 1 nsv435956 2 138720361 138722119 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465947 S 2 0 0 "" NA15510 esv2526896 2 138720840 138725793 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316803 S 1 0 0 "" NA18507 esv1127520 2 138721419 138725673 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806120 S 2 0 0 "" HuRef nsv508109 2 138722683 138728683 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618552,nssv621533,nssv624283 M 4 0 3 "" CHM,NA15510,NA18994 nsv213673 2 138841353 138841426 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232251 M 24 "" nsv834390 2 138885886 139050499 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442257 S 95 1 0 SPOPL nsv507036 2 139049263 139055263 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620732,nssv623353,nssv621667,nssv617571 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv213208 2 139077145 139079095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231786 M 24 "" esv271820 2 139097228 139097554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575793,essv2546425,essv2536720,essv2556649,essv2523258,essv2550550,essv2550313,essv2535040,essv2544474,essv2547476,essv2529120,essv2558337,essv2577991,essv2554858,essv2544727,essv2541266,essv2540273,essv2559955,essv2532927,essv2567953,essv2553261,essv2578329,essv2573037,essv2555532,essv2527517,essv2531549,essv2571855,essv2525623,essv2575055,essv2537745,essv2554587,essv2547874,essv2524798 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA07357,NA11830,NA11881,NA11920,NA11994,NA12004,NA12155,NA12234,NA12249,NA12414,NA12717,NA12749,NA12750,NA12761,NA12872,NA18526,NA18545,NA18552,NA18570,NA18576,NA18577,NA18605,NA18940,NA18942,NA18945,NA18952,NA18961,NA18973,NA18980,NA19102 nsv524273 2 139216443 139319739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700171 S 2026 1 0 NXPH2 nsv525196 2 139230471 139276601 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701277 S 2026 0 1 NXPH2 nsv875162 2 139261047 139297067 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502955 S 6533 1 0 "" SP51460 nsv818085 2 139268667 139301576 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417479 S 112 1 0 "" NA18960 esv272012 2 139351298 139351621 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565705,essv2575798,essv2546352,essv2544080,essv2556742,essv2531784,essv2521624,essv2529243,essv2576298,essv2520234,essv2554857,essv2530738,essv2561746,essv2539986,essv2563006,essv2523719,essv2540665,essv2524593,essv2549284,essv2521937,essv2566145,essv2532908,essv2529014,essv2567524,essv2570185,essv2563791,essv2553471,essv2572338,essv2542030,essv2578291,essv2572996,essv2533558,essv2555680,essv2574048,essv2534200,essv2522386,essv2531629,essv2573729,essv2543257,essv2525688,essv2575649,essv2568473,essv2536292,essv2548827,essv2548039,essv2557981 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA10851,NA11829,NA11830,NA11881,NA11992,NA11994,NA12006,NA12144,NA12749,NA12814,NA12815,NA12872,NA12873,NA12874,NA18489,NA18532,NA18537,NA18552,NA18555,NA18564,NA18571,NA18572,NA18576,NA18579,NA18582,NA18593,NA18603,NA18605,NA18609,NA18856,NA18940,NA18942,NA18944,NA18945,NA18951,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19099,NA19147 esv275098 2 139375041 139376606 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585113 S 1250 0 1 "" nsv875163 2 139446953 139575672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593571 S 6533 1 0 "" IS39450 nsv875164 2 139467038 139612003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582736 S 6533 0 1 "" IS36131 nsv516565 2 139513686 139520611 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669194,nssv674253 M 2026 0 2 "" nsv527000 2 139520611 139552493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703375 S 2026 0 1 "" nsv875165 2 139532343 139612003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555128 S 6533 0 1 "" MS21195 nsv875166 2 139575940 139627842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513327 S 6533 0 1 "" SP55747 esv268934 2 139587862 139587947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518802 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv2946 2 139646794 139691474 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7559 S 9 0 1 "" NA12156 esv2125409 2 139658623 139659040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664022 S 1 0 1 "" NA18507 esv1246082 2 139658818 139658868 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680824 S 2 0 1 "" HuRef esv2545299 2 139698209 139699780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348615 S 1 0 1 "" NA18507 nsv2947 2 139700286 139746017 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6877 S 9 0 1 "" NA12156 esv2575671 2 139703238 139704741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260204 S 1 0 1 "" NA18507 esv2026980 2 139703881 139704213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796553 S 1 0 1 "" NA18507 esv1483626 2 139704034 139704154 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685232 S 2 0 1 "" HuRef nsv875167 2 139748096 139921158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590858 S 6533 0 1 "" IS38596 nsv875168 2 139785405 139889954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518869 S 6533 0 1 "" SP58462 nsv520050 2 139803789 139804063 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697196 S 2026 1 0 "" esv28327 2 139833315 139833903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18445 S 451 0 1 "" NA18909 nsv517622 2 139894661 139921158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684257,nssv663478,nssv680513,nssv673789,nssv652556 M 2026 0 5 "" nsv875169 2 139954978 140172114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534213 S 6533 1 0 "" MS11482 dgv4319n71 2 140101851 140249403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875171,nsv875170 M 6533 0 2 "" IS33533,IS41964 nsv508110 2 140111793 140117793 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624284 S 4 0 1 "" NA18994 nsv518361 2 140277648 140279464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695788 S 2026 0 1 "" nsv875172 2 140293588 140362673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591057 S 6533 0 1 "" IS38630 nsv516560 2 140301533 140303211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669672,nssv669174 M 2026 0 2 "" nsv875173 2 140332953 140382497 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509004,nssv1514351 M 6533 2 0 "" SP54681,SP55996 dgv4320n71 2 140362673 140425612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875174,nsv875175 M 6533 0 2 "" IS31123,IS31369 nsv875176 2 140369296 140533972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580059 S 6533 0 1 "" IS35229 dgv4321n71 2 140384674 140449796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875177,nsv875178 M 6533 0 2 "" IS30532,IS31330 nsv875179 2 140384674 140489940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565762 S 6533 0 1 "" IS30522 esv29174 2 140432901 140435253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9812 S 451 0 1 "" NA18511 esv1776704 2 140449172 140449172 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914839 S 2 1 0 "" HuRef nsv875180 2 140452313 140720999 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532294 S 6533 1 0 LRP1B MS10739 nsv875181 2 140490079 140529746 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503641 S 6533 0 1 "" SP52093 esv8869 2 140527939 140528030 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31310 S 1 1 0 "" SJK dgv4322n71 2 140541538 140623647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875182,nsv875184,nsv875183 M 6533 0 4 "" IS31145,IS34358,IS35528,IS38239 nsv526712 2 140586954 140597099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703051 S 2026 0 1 "" nsv834392 2 140637370 140803083 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442258 S 95 1 0 LRP1B esv23976 2 140674784 140675607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12167 S 451 0 2 "" NA12044,NA18861 esv270708 2 140730932 140731017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519096 S 157 1 0 Samples from several populations that are part of the HapMap project. LRP1B NA19141 nsv2948 2 140741430 140775477 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3030 S 9 1 0 LRP1B NA18555 nsv875185 2 140771550 140895727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551709 S 6533 0 1 LRP1B MS18978 nsv459496 2 140827595 140867789 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536232 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP01379 nsv875186 2 140839966 140933714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532222 S 6533 0 1 LRP1B MS10737 nsv459507 2 140846567 140886810 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536243 S 1557 0 1 LRP1B 1787431198_A nsv470488 2 140849875 140886809 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547255 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP01216 nsv875187 2 140886810 140954465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552702 S 6533 0 1 LRP1B MS19587 dgv4323n71 2 140923488 140974889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875189,nsv875188 M 6533 0 2 LRP1B SP52858,SP54579 dgv4324n71 2 140935403 140984500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875190,nsv875192,nsv875191 M 6533 0 4 LRP1B SP56004,SP56172,SP56185,SP57314 nsv459518 2 140935403 140999393 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536254 S 1557 0 1 LRP1B 1780862042_A nsv433205 2 140986740 141002164 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463086 S 9 0 1 LRP1B NA15510 esv988978 2 141006985 141006985 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585262 S 3 1 0 LRP1B HuRef nsv459529 2 141037630 141066570 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536264 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP01075 nsv875193 2 141051207 141078158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536641 S 6533 0 1 LRP1B MS12868 dgv229n21 2 141057096 141066570 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520152,nsv528618 M 2026 2 0 LRP1B nsv528276 2 141070866 141078692 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704846 S 2026 1 0 LRP1B dgv4325n71 2 141108388 141258551 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875194,nsv875195 M 6533 0 2 LRP1B IS35572,MS10699 dgv4326n71 2 141125636 141194938 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875196,nsv875197 M 6533 0 6 LRP1B IS31728,IS34645,IS35083,MS15749,MS18847,MS23670 dgv4327n71 2 141125636 141316836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875198,nsv875199 M 6533 0 2 LRP1B IS39243,IS40067 dgv477n27 2 141145221 141204367 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459552,nsv459540 M 1557 0 2 LRP1B 1780862310_A,NINDS_212 nsv875200 2 141164782 141221189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598614 S 6533 0 1 LRP1B IS41068 dgv4328n71 2 141164782 141308722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875202,nsv875201,nsv875203 M 6533 0 3 LRP1B IS37103,MS12827,MS22104 dgv4329n71 2 141213066 141308722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875205,nsv875204,nsv875207 M 6533 0 3 LRP1B IS31335,IS35100,IS36244 nsv875206 2 141221189 141287799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579793 S 6533 0 1 LRP1B IS35181 nsv821736 2 141241306 141241886 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436447 S 31 0 1 LRP1B NA18542 esv272096 2 141250508 141250849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565637,essv2525909,essv2536574,essv2570789,essv2568359,essv2545258,essv2531777,essv2577381,essv2548364,essv2576796,essv2525320,essv2547384,essv2564783,essv2565463,essv2576469,essv2520183,essv2564300,essv2530782,essv2561846,essv2537405,essv2528612,essv2547045,essv2552327,essv2551676,essv2562980,essv2538396,essv2540582,essv2524434,essv2565094,essv2561035,essv2549136,essv2519589,essv2522001,essv2532780,essv2541692,essv2570237,essv2563881,essv2553133,essv2535792,essv2559142,essv2533706,essv2566343,essv2574033,essv2556012,essv2522545,essv2576972,essv2571997,essv2574663,essv2571524,essv2546037,essv2574194,essv2537855,essv2548847,essv2533383,essv2524997,essv2563396 M 157 56 0 Samples from several populations that are part of the HapMap project. LRP1B NA07000,NA07037,NA07051,NA07357,NA10847,NA11829,NA11918,NA11920,NA11993,NA11995,NA12003,NA12006,NA12043,NA12045,NA12154,NA12156,NA12717,NA12751,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18502,NA18504,NA18532,NA18547,NA18552,NA18555,NA18558,NA18562,NA18564,NA18566,NA18571,NA18576,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18944,NA18948,NA18951,NA18956,NA18960,NA18970,NA18973,NA19138,NA19238,NA19239,NA19240 esv272817 2 141250508 141250849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582159,essv2582699,essv2582934,essv2584210,essv2584716,essv2583821 M 7 6 0 Samples from several populations that are part of the HapMap project. LRP1B NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2484504 2 141293967 141295427 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263503 S 1 0 1 LRP1B NA18507 esv2066444 2 141316914 141317333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833281 S 1 0 1 LRP1B NA18507 nsv507037 2 141366257 141372257 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623354 S 4 1 0 LRP1B NA18994 nsv875208 2 141374348 141512090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551710 S 6533 0 1 LRP1B MS18978 nsv470490 2 141404853 141437629 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547258 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP00466 nsv470489 2 141404853 141447622 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547256 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP01036 nsv875209 2 141405565 141431216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499806 S 6533 0 1 LRP1B SP50025 nsv875210 2 141481163 141535127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594938 S 6533 0 1 LRP1B IS40067 nsv875211 2 141481163 141562816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566982 S 6533 0 1 LRP1B IS31041 esv2480394 2 141503451 141505111 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221394 S 1 0 1 LRP1B NA18507 dgv4330n71 2 141512579 141593671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875219,nsv875215,nsv875214,nsv875212 M 6533 0 7 LRP1B IS30597,IS31067,IS31651,IS32615,IS35196,IS38239,IS41043 nsv875213 2 141516943 141568899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578018 S 6533 0 1 LRP1B IS34645 dgv4331n71 2 141516943 141642315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875218,nsv875217,nsv875216 M 6533 0 3 LRP1B IS31179,MS22104,MS23290 dgv4332n71 2 141535892 141604284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875222,nsv875221,nsv875220 M 6533 0 4 LRP1B IS31338,IS36527,IS37393,MS18978 dgv4333n71 2 141543418 141644745 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875227,nsv875226,nsv875225,nsv875223 M 6533 0 6 LRP1B MS10802,MS15199,MS18847,MS21252,MS23670,MS25617 nsv459574 2 141550091 141582741 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536306 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP00963 esv271498 2 141553078 141559173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513264 S 157 1 0 Samples from several populations that are part of the HapMap project. LRP1B NA18907 nsv875224 2 141558390 141593671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579259 S 6533 0 1 LRP1B IS35083 nsv875228 2 141558390 141665762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538076 S 6533 0 1 LRP1B MS13480 nsv459585 2 141583918 141638102 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536317 S 1557 0 1 LRP1B 1780854477_A nsv818086 2 141621522 141638102 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416916 S 112 0 1 LRP1B NA19137 nsv875229 2 141621522 141668414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535433 S 6533 0 1 LRP1B MS12209 nsv821737 2 141633691 141635356 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424904 S 31 1 0 LRP1B NA18947 nsv819672 2 141722888 141726752 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419583 S 2 1 0 LRP1B AK1 esv1002626 2 141725338 141725776 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587157 S 3 0 1 LRP1B HuRef esv1010724 2 141731324 141739724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565716 S 3 0 1 LRP1B HuRef nsv875230 2 141771603 141835793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501782 S 6533 0 1 LRP1B SP50963 dgv1266e1 2 141787861 141962417 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16065,esv855 M 271 0 0 LRP1B NA18501 nsv517341 2 141825467 141829711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665998,nssv651778,nssv668553,nssv685643,nssv670165,nssv672316,nssv654958 M 2026 0 7 LRP1B dgv4334n71 2 141829711 141888836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875231,nsv875232 M 6533 0 3 LRP1B IS31137,IS33616,IS35145 esv269631 2 141830597 141830682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516298,essv2515952,essv2517797,essv2516189,essv2519442 M 157 5 0 Samples from several populations that are part of the HapMap project. LRP1B NA07346,NA12814,NA12873,NA12878,NA12891 esv273483 2 141830601 141830778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582163,essv2582631 M 7 2 0 Samples from several populations that are part of the HapMap project. LRP1B NA12878,NA12891 nsv522203 2 141850604 141857885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694976 S 2026 0 1 LRP1B nsv215437 2 141866521 141871152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234015 M 24 LRP1B nsv875233 2 141867875 141925263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572909 S 6533 0 1 LRP1B IS33196 nsv875234 2 141872650 141970589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574428 S 6533 0 1 LRP1B IS33566 nsv875235 2 141875437 141905427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587238 S 6533 0 1 LRP1B IS37999 dgv4335n71 2 141875437 141959067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875238,nsv875237,nsv875236 M 6533 0 3 LRP1B IS30597,IS31067,IS32615 nsv522093 2 141888836 141959067 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694865 S 2026 1 0 LRP1B nsv459596 2 141897199 141934978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536328 S 1557 0 1 LRP1B 1780854491_A dgv161e55 2 141897738 141955738 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34606,esv34823 M 771 2 0 LRP1B NA18500,NA18501 nsv523571 2 141904385 141905427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699353 S 2026 0 1 LRP1B nsv875239 2 141911816 141956069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579221 S 6533 1 0 LRP1B IS35072 essv9580 2 141912593 141962417 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LRP1B NA18501 nsv821738 2 141912989 141913627 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425597 S 31 1 0 LRP1B AK4 nsv875240 2 141915891 142063925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580060 S 6533 0 1 LRP1B IS35229 nsv526332 2 141925263 141926998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702622 S 2026 0 1 LRP1B nsv875241 2 141927416 141956069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564816 S 6533 1 0 LRP1B IS30302 esv1011284 2 141928662 141928662 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573587 S 3 1 0 LRP1B HuRef esv1511272 2 141928663 141928663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645257 S 2 1 0 LRP1B HuRef nsv214199 2 141928664 141928664 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232777 M 24 LRP1B nsv875242 2 141933237 141959067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597726 S 6533 0 1 LRP1B IS41113 nsv875243 2 141935503 141976062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592538 S 6533 0 1 LRP1B IS39243 nsv516298 2 141936878 141943238 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659836,nssv667402,nssv676081 M 2026 3 0 LRP1B nsv214554 2 141938647 141938647 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233132 M 24 LRP1B nsv10196 2 141946082 141948442 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27510 S 31 1 0 Samples from several populations that are part of the HapMap project. LRP1B NA12872 esv27616 2 141946278 141947122 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18313 S 451 0 1 LRP1B NA11993 nsv821739 2 141946667 141947120 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438552 S 31 0 1 LRP1B NA18547 nsv459618 2 141963458 141980216 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536349 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP01237 nsv470491 2 141970589 142016393 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547259 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP00875 nsv821740 2 141971489 141975937 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439518 S 31 0 1 LRP1B NA18592 nsv441788 2 141971752 141973472 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LRP1B nsv834393 2 141973184 142148034 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442259 S 95 1 0 LRP1B nsv459629 2 141979870 142011512 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536360 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP00090 nsv459640 2 142007681 142062044 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536371 S 1557 0 1 LRP1B NINDS_101 nsv518726 2 142036701 142038178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696176 S 2026 0 1 LRP1B esv24931 2 142041483 142044679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15000 S 451 0 5 LRP1B NA11995,NA12239,NA12489,NA12749,NA12828 esv274263 2 142041793 142042076 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580257,essv2580291 M 7 2 0 Samples from several populations that are part of the HapMap project. LRP1B NA12878,NA12891 esv271763 2 142041799 142042131 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519235,essv2514109,essv2516523,essv2515552,essv2516855,essv2519417,essv2513708 M 157 7 0 Samples from several populations that are part of the HapMap project. LRP1B NA07346,NA07347,NA11894,NA12043,NA12814,NA12815,NA12892 dgv4336n71 2 142052574 142137970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875244,nsv875245 M 6533 0 2 LRP1B SP58450,SP81073 esv2425365 2 142066884 142068582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365675 S 1 0 1 LRP1B NA18507 esv1935046 2 142067275 142067982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636141 S 1 0 1 LRP1B NA18507 esv3645 2 142067428 142067941 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26086 S 1 0 1 Single Asian sample YH LRP1B YH esv9456 2 142067462 142067793 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31897 S 1 0 1 LRP1B SJK esv995362 2 142067470 142067794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576553 S 3 0 1 LRP1B HuRef esv1788294 2 142067473 142067798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041920 S 2 0 1 LRP1B HuRef nsv214324 2 142067474 142067798 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232902 M 24 LRP1B nsv511815 2 142110771 142114236 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626468 S 1 0 1 LRP1B 1 esv2511578 2 142112017 142113826 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198847 S 1 0 1 LRP1B NA18507 esv2151280 2 142112287 142113137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801882 S 1 0 1 LRP1B NA18507 nsv834394 2 142146695 142309734 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442260 S 95 1 0 LRP1B nsv433206 2 142186251 142203345 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463087 S 9 0 1 Samples from several populations that are part of the HapMap project. LRP1B NA19129 nsv459651 2 142213455 142231127 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536382 S 1557 0 1 LRP1B 1780862530_A nsv470492 2 142220972 142235072 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547260 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP1B HGDP01061 dgv4337n71 2 142243570 142289060 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875246,nsv875248,nsv875247 M 6533 0 3 LRP1B IS34645,IS38148,IS38463 dgv4338n71 2 142243570 142330815 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875250,nsv875249 M 6533 0 2 LRP1B IS31335,IS36219 nsv508111 2 142271053 142277053 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624285,nssv622006 M 4 0 2 LRP1B NA10860,NA18994 nsv459674 2 142309030 142353377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536404 S 1557 0 1 LRP1B NINDS_91 esv1462127 2 142364382 142364382 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258244 S 2 1 0 LRP1B HuRef nsv875251 2 142372670 142418322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514550 S 6533 0 1 LRP1B SP56013 nsv875252 2 142382473 142484988 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544836 S 6533 1 0 LRP1B MS16537 esv268365 2 142450031 142450173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493187,essv2494839,essv2505759 M 157 3 0 Samples from several populations that are part of the HapMap project. LRP1B NA18504,NA18519,NA18861 nsv526107 2 142484988 142600718 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702355 S 2026 1 0 LRP1B esv269123 2 142501745 142502830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500446,essv2503266,essv2497202,essv2497747,essv2507842,essv2512646,essv2510033,essv2507452,essv2500989,essv2511645,essv2497932,essv2503500,essv2502394,essv2512342,essv2497386,essv2505610,essv2497113 M 157 17 0 Samples from several populations that are part of the HapMap project. LRP1B NA18537,NA18542,NA18552,NA18555,NA18564,NA18577,NA18593,NA18638,NA18856,NA18940,NA18945,NA18947,NA18948,NA18949,NA18959,NA19005,NA19190 esv5978 2 142505365 142505603 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28419 S 1 0 1 LRP1B SJK nsv875253 2 142521476 142571761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556992 S 6533 0 1 LRP1B MS22322 nsv875254 2 142549797 142647616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534633 S 6533 0 1 LRP1B MS11703 nsv875255 2 142611043 142680446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583512,nssv1569828 M 6533 0 2 "" IS31728,IS36527 nsv875256 2 142611043 142710798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600762,nssv1579394 M 6533 0 2 "" IS35100,IS41924 nsv875257 2 142611043 142757552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574252 S 6533 0 1 "" IS33533 nsv2949 2 142619971 142639389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9353 S 9 1 0 "" NA18517 nsv459685 2 142625655 142680446 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536411 S 1557 0 1 "" NINDS_241 esv275201 2 142663983 142664751 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585715 S 1250 0 1 "" nsv459696 2 142688669 142715035 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536414 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00129 nsv818087 2 142710798 142715864 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417832 S 112 1 0 "" NA18852 nsv2950 2 142751679 142796374 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7560 S 9 0 1 "" NA12156 nsv875258 2 142768509 143582869 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525842 S 6533 1 0 KYNU SP56843 nsv516492 2 142823683 142870491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701044,nssv668675,nssv693905 M 2026 0 3 "" esv26299 2 143015690 143016882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17838 S 451 0 1 "" NA18505 nsv821741 2 143016079 143016579 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424837 S 31 0 1 "" AK2 nsv519905 2 143036543 143047841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659428,nssv689672 M 2026 0 2 "" nsv526763 2 143081643 143134840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703115 S 2026 0 1 "" esv6237 2 143105978 143107018 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28678 S 1 0 0 "" SJK esv269408 2 143113136 143113221 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514582 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 esv2302743 2 143150887 143151631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775117 S 1 0 1 "" NA18507 esv3342 2 143151016 143151492 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25783 S 1 0 1 Single Asian sample YH "" YH esv6799 2 143151090 143151412 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29240 S 1 0 1 "" SJK nsv2951 2 143157938 143192255 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3031 S 9 1 0 "" NA18555 nsv518532 2 143192198 143192302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694246 S 2026 0 1 "" nsv834395 2 143251668 143445854 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442261 S 95 1 0 KYNU esv1005560 2 143293716 143297104 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564250 S 3 1 0 "" HuRef nsv875259 2 143302007 143567599 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517825 S 6533 1 0 KYNU SP57376 nsv2952 2 143321823 143327869 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1541 S 9 1 0 "" NA19240 esv22318 2 143384497 143386373 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20302 S 451 0 1 KYNU NA18916 nsv517623 2 143391296 143394797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658497,nssv672179,nssv658767,nssv659399,nssv668974,nssv669509,nssv680148,nssv693937,nssv657588,nssv691017,nssv655552,nssv660689,nssv675543,nssv678009,nssv652557 M 2026 0 15 KYNU nsv515932 2 143470198 143473225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665361,nssv658364,nssv688281,nssv662359 M 2026 0 4 KYNU nsv507038 2 143492149 143498149 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621668 S 4 1 0 KYNU NA10860 nsv2953 2 143528333 143559758 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4464 S 9 1 0 "" NA12878 nsv515703 2 143644044 143644152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656447,nssv664483,nssv687814 M 2026 0 3 ARHGAP15 nsv523591 2 143690330 143712980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699381 S 2026 0 1 ARHGAP15 nsv524638 2 143704588 143712980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700603 S 2026 0 1 ARHGAP15 nsv2955 2 143723254 143731861 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5820 S 9 1 0 ARHGAP15 NA19129 esv994769 2 143726087 143727248 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564530 S 3 1 0 ARHGAP15 HuRef nsv821742 2 143727205 143727752 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438677,nssv1423233,nssv1427362 M 31 3 0 ARHGAP15 AK8,NA18973,NA18999 esv267613 2 143727230 143733318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541003,essv2546519,essv2526219,essv2536687,essv2571019,essv2556526,essv2531875,essv2521716,essv2550656,essv2554301,essv2520496,essv2554984,essv2540148,essv2558925,essv2537151,essv2542961,essv2540247,essv2565049,essv2519501,essv2567320,essv2570331,essv2572308,essv2566985,essv2555417,essv2530058,essv2573560,essv2543347,essv2525763,essv2526853,essv2529832,essv2575351,essv2574573,essv2536025,essv2548756,essv2554628 M 157 35 0 Samples from several populations that are part of the HapMap project. ARHGAP15 NA06986,NA07037,NA07346,NA11831,NA11881,NA11918,NA11920,NA11993,NA11994,NA12006,NA12144,NA12155,NA12287,NA12716,NA12872,NA18489,NA18516,NA18517,NA18550,NA18552,NA18558,NA18566,NA18582,NA18593,NA18609,NA18853,NA18943,NA18949,NA18964,NA18965,NA18980,NA19005,NA19093,NA19102,NA19138 nsv519096 2 143775631 143780306 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696570 S 2026 0 1 ARHGAP15 esv26609 2 143794108 143794668 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13595 S 451 1 0 ARHGAP15 NA12749 nsv213976 2 143956025 143956120 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232554 M 24 ARHGAP15 nsv2956 2 144000319 144025094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4465 S 9 1 0 ARHGAP15 NA12878 esv273694 2 144021423 144027487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581922,essv2582266 M 7 2 0 Samples from several populations that are part of the HapMap project. ARHGAP15 NA12878,NA12891 nsv821744 2 144027815 144028286 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423234 S 31 1 0 ARHGAP15 NA18999 nsv459707 2 144204838 144233539 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536425 S 1557 0 1 ARHGAP15 NINDS_162 nsv821745 2 144230901 144233767 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440922 S 31 0 1 ARHGAP15 NA18969 nsv2957 2 144331013 144346779 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5822 S 9 1 0 "" NA19129 nsv521881 2 144384719 144386056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694652 S 2026 0 1 "" nsv875260 2 144391824 144419596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511328 S 6533 0 1 "" SP55021 nsv834396 2 144558657 144735935 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442263 S 95 1 0 GTDC1 esv271681 2 144755756 144756042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500840,essv2511190,essv2503157,essv2500484,essv2505616 M 157 5 0 Samples from several populations that are part of the HapMap project. GTDC1 NA11830,NA11931,NA18943,NA18956,NA19005 nsv875261 2 144809536 144901136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564015 S 6533 0 1 ZEB2 IS30146 nsv215339 2 144958251 144962708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233917 M 24 ZEB2 esv1694349 2 144971901 144971951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014766 S 2 0 1 ZEB2 HuRef esv1004757 2 145009922 145009988 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571795 S 3 0 1 "" HuRef nsv213537 2 145009923 145009989 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232115 M 24 "" esv1358940 2 145009949 145010017 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958989 S 2 0 1 "" HuRef nsv215243 2 145009950 145010015 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233821 M 24 "" esv270662 2 145058484 145058816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513894 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv2635364 2 145062570 145063493 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326530 S 1 1 0 "" NA18507 esv268984 2 145063199 145063547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517432,essv2514029,essv2518844,essv2515508,essv2515062,essv2516443,essv2517765,essv2516283,essv2516918,essv2518942,essv2518376 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12043,NA12045,NA12249,NA12812,NA12814,NA12878,NA12891,NA12892,NA19239,NA19240 esv273731 2 145063204 145063542 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581768,essv2582695,essv2583120,essv2584490,essv2583589 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv1077114 2 145063237 145063237 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046034 S 2 1 0 "" HuRef nsv215265 2 145063238 145063238 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233843 M 24 "" nsv834397 2 145155998 145325098 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442265,nssv1442264 M 95 2 0 DKFZp686O1327 esv27024 2 145197426 145201807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15668 S 451 0 1 DKFZp686O1327 NA19129 esv7732 2 145344546 145345205 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30173 S 1 0 0 DKFZp686O1327 SJK nsv834398 2 145375889 145546626 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442266 S 95 0 1 DKFZp686O1327 esv1921476 2 145390824 145391267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593988 S 1 0 1 DKFZp686O1327 NA18507 esv2027100 2 145494160 145494579 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721775 S 1 0 1 DKFZp686O1327 NA18507 dgv4339n71 2 145546523 145628104 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875263,nsv875262,nsv875264 M 6533 0 8 DKFZp686O1327 IS34440,IS35789,IS40902,IS41780,IS41819,IS41881,MS15491,MS22798 esv988103 2 145670278 145670278 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585242 S 3 1 0 "" HuRef esv1685405 2 145670279 145670279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935140 S 2 1 0 "" HuRef nsv875265 2 145700558 145784566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601023,nssv1556727 M 6533 0 2 "" IS41964,MS22146 nsv834399 2 145726895 145902063 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442267 S 95 1 0 "" esv5519 2 145897773 145897877 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27960 S 1 1 0 "" SJK nsv834400 2 145910716 146097229 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442268 S 95 1 0 MIR548Q nsv821746 2 145945131 145952341 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434275 S 31 1 0 "" NA18570 nsv520529 2 145974352 145977765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690365,nssv672136 M 2026 0 2 MIR548Q esv1001291 2 146063436 146063436 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576996 S 3 1 0 MIR548Q HuRef nsv215156 2 146063438 146063438 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233734 M 24 MIR548Q esv5469 2 146265148 146265248 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27910 S 1 1 0 "" SJK esv1611418 2 146305806 146305806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3828094 S 2 1 0 "" HuRef dgv4340n71 2 146404643 146589604 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875267,nsv875266 M 6533 0 2 "" IS35018,IS39011 nsv2958 2 146408174 146442865 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3032 S 9 1 0 "" NA18555 nsv875268 2 146446379 146974782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577858 S 6533 0 1 "" IS34599 nsv215260 2 146448174 146449492 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233838 M 24 "" nsv875269 2 146468631 146574041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593725 S 6533 0 1 "" IS39509 nsv2959 2 146491253 146526555 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4466 S 9 1 0 "" NA12878 nsv2960 2 146556056 146607503 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11022,nssv4467,nssv9354,nssv10242,nssv2296,nssv6878 M 9 0 6 "" NA12156,NA12878,NA15510,NA18517,NA18555,NA18956 esv274449 2 146564533 146564867 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582432,essv2584117,essv2584407,essv2583344 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 nsv10197 2 146571358 146593669 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11571,nssv11708,nssv11517,nssv29229,nssv12323,nssv28085,nssv28282,nssv11563,nssv28770,nssv28358,nssv28591,nssv29246,nssv28821,nssv28918,nssv28426,nssv12180,nssv28995,nssv28355 M 31 12 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA11830,NA12155,NA18502,NA18504,NA18564,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 dgv62n17 2 146577095 146593569 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437296,nsv437295 M 60 0 2 "" NA18503,NA19202 nsv225 2 146577320 146602272 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv225 S 1 0 1 "" NA15510 nsv436267 2 146578437 146594425 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465948 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv511816 2 146578561 146593396 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626469 S 1 0 1 "" 1 dgv668n67 2 146578935 146593664 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821748,nsv821747 M 31 0 27 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18968,NA18969,NA18972,NA18997,NA18999 nsv821317 2 146578935 146593664 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420265 S 1 0 1 "" NA10851 esv3199 2 146579036 146593475 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25640 S 1 0 1 Single Asian sample YH "" YH esv27745 2 146579068 146593582 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14955 S 451 21 3 "" NA07037,NA11993,NA12004,NA12006,NA12749,NA12878,NA15510,NA18502,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv6356 2 146579082 146593331 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28797 S 1 0 1 "" SJK nsv498937 2 146579089 146593335 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585798 S 9 0 1 "" nsv442836 2 146580874 146583404 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421870 2 146580874 146592386 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112684,essv5073533,essv5087785,essv5096051,essv5019490,essv5144475,essv5148437,essv5132504,essv5072778,essv5145105,essv5027821,essv5115490,essv5016736,essv5008772,essv5110852,essv5091678,essv5063848,essv5053007,essv5069292,essv5128757,essv5039121,essv5107213,essv5155456,essv5114528,essv5076435,essv5080484,essv5007084,essv5021336,essv5129574,essv5059986,essv5121115,essv5021384,essv5125460,essv5067472,essv5120547,essv5091196,essv5015529,essv5136460,essv5024967,essv5007533,essv5097036,essv5141312,essv5124435,essv5091316,essv5097680,essv5083628,essv5096815,essv5114907,essv5089235,essv5112992,essv5031173,essv5002897,essv5145415,essv5050638,essv5099356,essv5105127,essv5097291,essv5123475,essv5101192,essv5153350,essv5090985,essv5115544,essv5034025,essv5120286,essv5041627,essv5083832,essv5014130,essv5102351,essv5029128,essv5137114,essv5071503,essv5002511,essv5129616,essv5005839,essv5095986,essv5094818,essv5159520,essv5021364,essv5025872,essv5082352,essv5037081,essv5108668,essv5117453,essv5138142,essv5070689,essv5126192,essv5122301,essv5028395,essv5016497,essv5031010,essv5124354,essv5157207,essv5069466,essv5006665,essv5096471,essv5032039,essv5111826,essv5143642,essv5027512,essv5050030,essv5009526,essv5030642,essv5151653,essv5011096,essv5036588,essv5134866,essv5122650,essv5053525,essv5037802,essv5028475,essv5077105,essv5049497,essv5052204,essv5061476,essv5057222,essv5094473,essv5012212,essv5118493,essv5150741,essv5060880,essv5146894,essv5091428,essv5105420,essv5139279,essv5002559,essv5058036,essv5077971,essv5160866,essv5079857,essv5040345,essv5061351,essv5019951,essv5045058,essv5083579,essv5145215,essv5118434,essv5107942,essv5113069,essv5012512,essv5079357,essv5102678,essv5035822,essv5042032,essv5131161,essv5127828,essv5147054,essv5150160,essv5128918,essv5063477,essv5067279,essv5105909,essv5048203,essv5115588,essv5043162,essv5160999,essv5045512,essv5132243,essv5010310,essv5126143,essv5080483,essv5088912,essv5019373,essv5098102,essv5087322,essv5081350,essv5082722,essv5099877,essv5062200,essv5010977,essv5069921,essv5060031,essv5009988,essv5033923,essv5108259,essv5080898,essv5060778,essv5021487,essv5132323,essv5147546,essv5111805,essv5019172,essv5145361,essv5109107,essv5038637,essv5147820,essv5011717,essv5010894,essv5112466,essv5016623,essv5057320,essv5025617,essv5059997,essv5119119,essv5061079,essv5105203,essv5089984,essv5100671,essv5155310,essv5122532,essv5004066,essv5068184,essv5003086,essv5077678,essv5095059,essv5095936,essv5089050,essv5053881,essv5154365,essv5101597,essv5160323,essv5086674,essv5042471,essv5004358,essv5025129,essv5003101,essv5113798,essv5073600,essv5018710,essv5146626,essv5126674,essv5055146,essv5133341,essv5121421,essv5024835,essv5063811,essv5093670,essv5111073,essv5148994,essv5151954,essv5005858,essv5052383,essv5089105,essv5075205,essv5100386,essv5135028,essv5109105,essv5081021,essv5023775,essv5120169,essv5031161,essv5122259,essv5013346,essv5063169,essv5101044,essv5114442,essv5018976,essv5034166,essv5151867,essv5136974,essv5015730,essv5125992,essv5154146,essv5081243,essv5105688,essv5031549,essv5064194,essv5080583,essv5135436,essv5135012,essv5139270,essv5107034,essv5056631,essv5103088,essv5139047,essv5031504,essv5080908,essv5121389,essv5040096,essv5130051,essv5107957,essv5039630,essv5057443,essv5024906,essv5121974,essv5127942,essv5056620,essv5009704,essv5051339,essv5098585,essv5096698,essv5123299,essv5022324,essv5040346,essv5009977,essv5122305,essv5081553,essv5115427,essv5031464,essv5139988,essv5035830,essv5035317,essv5119295,essv5152310,essv5142036,essv5053933,essv5015020,essv5026716,essv5046969,essv5093197,essv5139644,essv5024690,essv5134269,essv5028356,essv5039616,essv5087424,essv5093396,essv5126579,essv5051019,essv5149029,essv5159042,essv5007094,essv5093863,essv5153618,essv5083169,essv5081648,essv5093449,essv5057563,essv5039065,essv5153315,essv5024034,essv5054697,essv5024876,essv5100161,essv5111482,essv5005015,essv5017477,essv5094499,essv5018596,essv5051049,essv5122912,essv5160917,essv5005189,essv5062534,essv5127845,essv5041559,essv5066547,essv5125657,essv5083615,essv5138878,essv5054975,essv5046082,essv5008372,essv5008671,essv5100785,essv5143368,essv5007794,essv5138515,essv5158838,essv5026506,essv5029584,essv5126271,essv5008145,essv5125059,essv5148837,essv5023377,essv5131645,essv5150885,essv5072737,essv5083612,essv5024176,essv5022701,essv5077101,essv5068442,essv5096718,essv5113688,essv5160862,essv5072568,essv5068785,essv5090243,essv5102010,essv5126293,essv5073454,essv5026842,essv5029110,essv5039408,essv5151048,essv5122641,essv5058499,essv5049127,essv5042435,essv5061525,essv5056802,essv5120608,essv5145056,essv5134625,essv5060795,essv5023060,essv5011892,essv5045113,essv5113332,essv5112041,essv5126928,essv5141210,essv5025728,essv5146644,essv5051204,essv5038265,essv5050809,essv5026227,essv5125457,essv5080808,essv5145526,essv5153529,essv5096307,essv5132122,essv5033714,essv5159931,essv5074878,essv5056959,essv5125807,essv5125767,essv5075014,essv5017510,essv5068529,essv5064554,essv5010603,essv5068404,essv5022266,essv5018554,essv5076631,essv5114961,essv5128216,essv5072085,essv5130621,essv5108145,essv5135296,essv5101078,essv5152704,essv5124944,essv5028813,essv5047031,essv5032274,essv5142759,essv5147393,essv5132665,essv5154632,essv5007817,essv5133486,essv5013057,essv5060267,essv5128517,essv5066257,essv5102084,essv5104168,essv5052699,essv5020655,essv5116728,essv5148118,essv5105220,essv5069373,essv5152141,essv5058778,essv5014453,essv5028157,essv5130480,essv5127038,essv5079116,essv5105345,essv5007831,essv5071644,essv5123849,essv5023332,essv5134502,essv5118691,essv5072859,essv5144074,essv5061768,essv5105558,essv5014670,essv5031759,essv5061411,essv5055724,essv5009225,essv5004040,essv5032758,essv5082509,essv5002644,essv5084531,essv5030082,essv5147526,essv5020682,essv5084664,essv5123200,essv5037302,essv5140218,essv5110370,essv5130153,essv5133810,essv5046297,essv5068402,essv5092680,essv5059596,essv5055143,essv5126383,essv5085194,essv5151495,essv5090406,essv5080120,essv5126155,essv5099323,essv5145172,essv5105048,essv5140321,essv5145291,essv5056031,essv5079837,essv5084480,essv5032648,essv5075747,essv5108852,essv5129147,essv5052702,essv5144440,essv5078079,essv5014318,essv5037354,essv5103380,essv5144501,essv5097184,essv5149088,essv5107007,essv5157534,essv5075531,essv5071553,essv5118739,essv5126827,essv5159134,essv5051923,essv5011494,essv5003125,essv5012844,essv5092724,essv5013061,essv5005605,essv5153221,essv5132659,essv5113656,essv5128984,essv5005846,essv5090057,essv5138051,essv5041498,essv5024808,essv5113653,essv5099836,essv5082244,essv5004313,essv5154040,essv5116470,essv5110717,essv5160795,essv5144414,essv5102124,essv5034019,essv5075968,essv5088639,essv5030121,essv5029430,essv5010754,essv5101698,essv5086806,essv5046376,essv5152084,essv5072691,essv5072420,essv5136554,essv5028694,essv5087518,essv5075417,essv5092304,essv5031984,essv5081389,essv5017149,essv5100226,essv5078898,essv5147654,essv5141661,essv5054904,essv5070721,essv5123893,essv5054442,essv5078000,essv5055341,essv5122545,essv5078810,essv5093116,essv5011223,essv5037646,essv5073444,essv5075812,essv5098275,essv5023721,essv5135833,essv5149114,essv5154433,essv5017663,essv5087309,essv5015233,essv5155114,essv5127220,essv5144186,essv5023875,essv5011906,essv5030488,essv5146822,essv5041761,essv5087545,essv5088528,essv5116632,essv5015889,essv5058068,essv5097686,essv5078955,essv5103679,essv5085018,essv5004523,essv5038099,essv5127239,essv5076735,essv5049105,essv5085775,essv5041382,essv5007175,essv5063664,essv5143780,essv5017747 M 1184 0 626 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06997,NA07014,NA07045,NA07051,NA07055,NA07345,NA07346,NA07348,NA07349,NA07357,NA10830,NA10831,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10850,NA10852,NA10855,NA10856,NA10859,NA10861,NA10863,NA11829,NA11832,NA11840,NA11881,NA11882,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11994,NA11995,NA12003,NA12005,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12275,NA12282,NA12283,NA12286,NA12287,NA12340,NA12342,NA12344,NA12347,NA12348,NA12376,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12749,NA12750,NA12752,NA12760,NA12762,NA12767,NA12776,NA12777,NA12801,NA12802,NA12812,NA12813,NA12815,NA12817,NA12827,NA12828,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17968,NA17969,NA17970,NA17972,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17995,NA17997,NA17998,NA17999,NA18102,NA18105,NA18106,NA18107,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18162,NA18166,NA18500,NA18501,NA18503,NA18505,NA18506,NA18508,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18854,NA18857,NA18873,NA18939,NA18943,NA18944,NA18947,NA18948,NA18949,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19002,NA19005,NA19007,NA19009,NA19010,NA19028,NA19035,NA19044,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19087,NA19088,NA19137,NA19150,NA19151,NA19171,NA19200,NA19202,NA19203,NA19247,NA19308,NA19318,NA19328,NA19332,NA19359,NA19373,NA19374,NA19384,NA19403,NA19428,NA19430,NA19437,NA19440,NA19456,NA19457,NA19467,NA19474,NA19625,NA19650,NA19652,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19669,NA19670,NA19671,NA19675,NA19677,NA19678,NA19679,NA19680,NA19681,NA19684,NA19685,NA19686,NA19704,NA19708,NA19714,NA19716,NA19718,NA19722,NA19723,NA19724,NA19725,NA19726,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19759,NA19760,NA19761,NA19763,NA19770,NA19771,NA19772,NA19774,NA19775,NA19777,NA19782,NA19784,NA19789,NA19790,NA19794,NA19796,NA19818,NA19828,NA19835,NA19836,NA19916,NA19918,NA20126,NA20127,NA20128,NA20129,NA20279,NA20284,NA20292,NA20317,NA20319,NA20332,NA20333,NA20343,NA20347,NA20356,NA20357,NA20358,NA20359,NA20502,NA20504,NA20509,NA20512,NA20515,NA20516,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20535,NA20538,NA20539,NA20541,NA20543,NA20544,NA20581,NA20588,NA20589,NA20752,NA20753,NA20754,NA20756,NA20757,NA20759,NA20760,NA20761,NA20765,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20800,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20810,NA20811,NA20812,NA20813,NA20816,NA20819,NA20826,NA20845,NA20846,NA20847,NA20849,NA20852,NA20853,NA20858,NA20862,NA20866,NA20869,NA20870,NA20877,NA20881,NA20882,NA20883,NA20885,NA20887,NA20890,NA20891,NA20892,NA20895,NA20896,NA20897,NA20899,NA20900,NA20904,NA20906,NA20907,NA20908,NA21086,NA21088,NA21089,NA21092,NA21094,NA21097,NA21099,NA21100,NA21101,NA21103,NA21107,NA21109,NA21111,NA21112,NA21113,NA21115,NA21117,NA21125,NA21137,NA21141,NA21143,NA21297,NA21300,NA21301,NA21302,NA21307,NA21344,NA21356,NA21360,NA21361,NA21363,NA21378,NA21381,NA21382,NA21383,NA21414,NA21415,NA21417,NA21421,NA21424,NA21425,NA21435,NA21440,NA21442,NA21448,NA21451,NA21453,NA21455,NA21457,NA21473,NA21475,NA21477,NA21479,NA21480,NA21485,NA21488,NA21489,NA21490,NA21493,NA21521,NA21578,NA21599,NA21600,NA21616,NA21619,NA21635,NA21636,NA21678,NA21693,NA21716,NA21718,NA21719,NA21738,NA21768,NA21776 nsv438371 2 146581429 146592386 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471121,nssv471129,nssv471109,nssv471148,nssv471160,nssv471125,nssv471137,nssv471118,nssv471116,nssv471158,nssv471112,nssv471108,nssv471130,nssv471138,nssv471150,nssv471154,nssv471151,nssv471163,nssv471145,nssv471133,nssv471139,nssv471123,nssv471141,nssv471162,nssv471155,nssv471119,nssv471110,nssv471165,nssv471147,nssv471115,nssv471143,nssv471149,nssv471126,nssv471128,nssv471136,nssv471120,nssv471161,nssv471132,nssv471111,nssv471131,nssv471140,nssv471156,nssv471122,nssv471144,nssv471166,nssv471117,nssv471134,nssv471164,nssv471153,nssv471114,nssv471142,nssv471127,nssv471152,nssv471167,nssv471159 M 269 0 54 Samples from several populations that are part of the HapMap project. "" NA07034,NA07048,NA07055,NA07348,NA10846,NA10859,NA11829,NA11832,NA11882,NA12144,NA12154,NA12155,NA12234,NA12760,NA12865,NA12875,NA12878,NA18532,NA18540,NA18542,NA18547,NA18550,NA18564,NA18566,NA18570,NA18571,NA18573,NA18579,NA18582,NA18603,NA18609,NA18612,NA18620,NA18621,NA18633,NA18943,NA18948,NA18953,NA18956,NA18961,NA18964,NA18966,NA18969,NA18971,NA18972,NA18974,NA18975,NA18980,NA18987,NA18990,NA18992,NA18994,NA18995,NA19003 nsv514096 2 146581616 146583424 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627153 S 1414 0 1 "" nsv508170 2 146582556 146598127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622819,nssv620193 M 4 0 2 "" NA15510,NA18994 dgv22n14 2 146583025 146592386 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433243,nsv433254,nsv433265 M 9 0 3 "" NA12878,NA15510,NA18956 nsv875270 2 146592386 146664247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527556 S 6533 0 1 "" SP58537 nsv821749 2 146601324 146605986 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426500 S 31 0 1 "" AK6 nsv508112 2 146733396 146739396 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622008 S 4 0 1 "" NA10860 nsv512781 2 146736875 146737517 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625413 S 1 1 0 "" 1 esv274473 2 146737378 146738897 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581920,essv2582511,essv2583203,essv2583915,essv2584433,essv2583395 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv270756 2 146737378 146738907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557869,essv2565695,essv2575840,essv2540912,essv2546153,essv2521351,essv2526140,essv2542335,essv2536399,essv2522755,essv2544202,essv2570818,essv2556509,essv2568243,essv2545620,essv2523165,essv2531818,essv2577613,essv2570567,essv2548239,essv2521470,essv2576781,essv2550765,essv2525478,essv2535442,essv2554336,essv2544377,essv2552044,essv2520318,essv2547376,essv2529097,essv2558475,essv2564692,essv2577975,essv2553838,essv2565473,essv2576458,essv2564019,essv2555132,essv2537482,essv2528463,essv2546675,essv2539934,essv2520935,essv2557062,essv2551922,essv2532294,essv2569435,essv2578580,essv2537100,essv2569629,essv2527259,essv2561419,essv2544599,essv2562897,essv2523507,essv2553062,essv2541441,essv2538184,essv2542875,essv2540515,essv2524614,essv2564887,essv2534910,essv2560965,essv2549429,essv2519888,essv2559835,essv2522150,essv2566203,essv2531238,essv2532483,essv2568051,essv2528662,essv2567336,essv2541866,essv2570182,essv2563738,essv2553455,essv2535672,essv2572325,essv2559000,essv2566919,essv2542026,essv2568933,essv2543698,essv2556326,essv2528001,essv2539333,essv2578268,essv2573074,essv2555203,essv2555783,essv2567024,essv2566625,essv2529934,essv2573866,essv2527616,essv2555930,essv2534186,essv2522440,essv2531352,essv2573620,essv2543323,essv2571992,essv2526896,essv2575590,essv2538826,essv2526682,essv2545026,essv2560181,essv2549912,essv2571190,essv2545778,essv2574493,essv2551379,essv2535949,essv2537890,essv2548675,essv2533267,essv2554677,essv2524971,essv2563167 M 157 123 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12828,NA12872,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18504,NA18505,NA18508,NA18510,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18912,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19099,NA19108,NA19114,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv1609800 2 146737396 146737396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145333 S 2 1 0 "" HuRef nsv834401 2 146810713 146976537 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442269 S 95 0 1 "" esv2564236 2 146927482 146929504 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337536 S 1 0 1 "" NA18507 nsv834403 2 146954307 147145332 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442270 S 95 1 0 PABPC1P2 esv7172 2 146955458 146955536 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29613 S 1 1 0 "" SJK dgv4341n71 2 147096674 147254277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875272,nsv875271 M 6533 0 2 "" IS33533,MS17114 nsv834404 2 147145387 147337003 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442271 S 95 1 0 "" nsv875273 2 147188807 147246901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517720 S 6533 0 1 "" SP57367 nsv834405 2 147220847 147399344 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442276,nssv1442275,nssv1442274,nssv1442272 M 95 0 4 "" nsv507039 2 147439532 147445532 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620733 S 4 1 0 "" NA15510 nsv821750 2 147469227 147470493 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425599 S 31 0 1 "" AK4 esv1404976 2 147478764 147478764 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746875 S 2 1 0 "" HuRef nsv518654 2 147503753 147558262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694258 S 2026 0 1 "" nsv875274 2 147558262 147592595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515083 S 6533 0 1 "" SP56120 nsv508113 2 147582732 147588732 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624286,nssv621534,nssv622009 M 4 0 3 "" NA10860,NA15510,NA18994 nsv2961 2 147650708 147664495 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5823 S 9 0 1 "" NA19129 nsv435728 2 147656248 147665206 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465949 S 2 0 1 "" NA15510 esv1007879 2 147657393 147663262 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586336 S 3 1 0 "" HuRef nsv498938 2 147657814 147663280 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585799 S 9 0 1 "" esv8554 2 147657819 147663282 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30995 S 1 0 1 "" SJK esv26571 2 147658115 147663262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19486,esv13086 M 451 0 5 "" NA15510,NA18508,NA18858,NA19129,NA19190 nsv834406 2 147846085 147999593 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442277 S 95 1 0 "" nsv875275 2 147882898 148427712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566789 S 6533 1 0 ACVR2A,ORC4 IS30923 esv270177 2 148120600 148120940 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494317,essv2505951,essv2509427,essv2498777 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18861,NA19129,NA19138 nsv821751 2 148156856 148157309 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424496,nssv1421557,nssv1427365,nssv1440924,nssv1424928,nssv1424055,nssv1438574,nssv1432687,nssv1436449 M 31 0 9 "" AK8,NA18542,NA18547,NA18582,NA18947,NA18968,NA18969,NA18972,NA18997 esv271819 2 148193454 148193790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514639,essv2518701,essv2514829,essv2518468,essv2516494,essv2515616,essv2515996,essv2514448,essv2517834,essv2517229,essv2518297 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12045,NA12234,NA12287,NA12814,NA12815,NA12873,NA12874,NA12878,NA18970,NA19240 esv272426 2 148193454 148193790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581625,essv2581229 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv268425 2 148366511 148366832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516660,essv2516989,essv2518659,essv2516492,essv2517996,essv2515895,essv2517877,essv2515827,essv2519428,essv2513734 M 157 10 0 Samples from several populations that are part of the HapMap project. ACVR2A NA07346,NA07347,NA11881,NA11931,NA12045,NA12814,NA12872,NA12873,NA12878,NA18969 esv273299 2 148366511 148366832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581313 S 7 1 0 Samples from several populations that are part of the HapMap project. ACVR2A NA12878 esv1299810 2 148366542 148366542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239612 S 2 1 0 ACVR2A HuRef esv271545 2 148431316 148431401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515043 S 157 1 0 Samples from several populations that are part of the HapMap project. ORC4 NA12812 esv267779 2 148498565 148498650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515549 S 157 1 0 Samples from several populations that are part of the HapMap project. MBD5 NA12815 esv2450736 2 148553603 148555018 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275936 S 1 0 1 MBD5 NA18507 nsv875276 2 148560839 148713294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526200 S 6533 0 1 MBD5 SP57070 esv271149 2 148739554 148739639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518992 S 157 1 0 Samples from several populations that are part of the HapMap project. MBD5 NA19141 nsv523090 2 148753482 148827343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698782 S 2026 0 1 MBD5 nsv875277 2 148810885 148895444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568100 S 6533 0 1 MBD5 IS31205 dgv4342n71 2 148810885 148923413 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875278,nsv875280,nsv875281,nsv875279 M 6533 0 4 MBD5 IS31563,IS35271,IS39011,IS41113 esv1091060 2 148819429 148819479 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869901 S 2 0 1 MBD5 HuRef esv1092103 2 148819530 148819606 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977135 S 2 0 1 MBD5 HuRef esv2751831 2 148867828 149813849 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982895,essv6982894,essv6982893,essv6988600,essv6986303 M 771 1 0 EPC2,KIF5C,LYPD6B,MBD5 BEC_608 esv29150 2 148916260 148919137 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13136,esv16682 M 451 0 3 MBD5 NA18909,NA19099,NA19147 nsv518198 2 148927339 148936453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694211 S 2026 0 1 MBD5 esv27183 2 148965153 148967082 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10243 S 451 0 1 MBD5 NA19190 nsv527539 2 148999540 149046721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704000 S 2026 0 1 "" nsv508873 2 149072409 149127497 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623876 S 4 1 0 EPC2 NA18994 esv2496316 2 149139191 149140629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256479 S 1 0 1 EPC2 NA18507 esv2619674 2 149174446 149175783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388790 S 1 0 1 EPC2 NA18507 esv271844 2 149207091 149207176 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516562,essv2515638,essv2517208 M 157 3 0 Samples from several populations that are part of the HapMap project. EPC2 NA12814,NA12815,NA18970 esv1388120 2 149249741 149249741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887723 S 2 1 0 EPC2 HuRef esv2112053 2 149282412 149282783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927224 S 1 0 1 "" NA18507 esv272115 2 149300659 149300913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517064 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 esv1291292 2 149308135 149308135 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104865 S 2 1 0 "" HuRef nsv2962 2 149324868 149342045 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7561 S 9 0 1 "" NA12156 nsv508874 2 149504213 149504213 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619292 S 4 1 0 KIF5C NA10860 nsv2963 2 149510026 149535302 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1542 S 9 1 0 KIF5C NA19240 nsv834407 2 149511220 149663451 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442278 S 95 0 1 KIF5C,LYPD6B nsv834408 2 149576968 149767152 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442279 S 95 1 0 KIF5C,LYPD6B dgv230n21 2 149650765 149656957 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521064,nsv527796 M 2026 0 2 LYPD6B nsv515662 2 149654828 149662343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664285,nssv659799,nssv674026,nssv670370 M 2026 0 4 LYPD6B nsv459718 2 149687537 149700652 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536436 S 1557 1 0 LYPD6B 1798860565_A esv33982 2 149734000 149734394 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100913,essv98187,essv95622,essv93748,essv97260,essv99988 M 51 6 0 LYPD6B 21656,21772,21841,21972,22075,22086 esv33162 2 149735543 149735726 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100016 S 51 0 1 LYPD6B 22086 nsv2964 2 149840700 149876012 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1543 S 9 1 0 "" NA19240 esv269522 2 149841550 149841886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521399,essv2521696,essv2520372,essv2540188,essv2557048,essv2532129,essv2562786,essv2566931,essv2550967,essv2539488,essv2574676,essv2568768,essv2549959 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12144,NA12716,NA18489,NA18501,NA18505,NA18507,NA18853,NA18858,NA18912,NA19138,NA19147,NA19225 esv5457 2 149897892 149916950 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27898 S 1 0 1 LYPD6 SJK nsv834409 2 150019592 150156257 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442280 S 95 1 0 LYPD6,MMADHC nsv875282 2 150120741 150595803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598813 S 6533 0 1 MMADHC IS41284 nsv834410 2 150208543 150383543 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442281 S 95 0 1 "" esv270227 2 150227172 150227257 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514556 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 esv9000 2 150246832 150247760 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31441 S 1 0 0 "" SJK esv23150 2 150329611 150334943 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19632,esv11979 M 451 0 3 "" NA18508,NA18517,NA19147 esv7848 2 150335231 150335533 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30289 S 1 0 1 "" SJK nsv519036 2 150379011 150469623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696504 S 2026 0 1 "" nsv834411 2 150405458 150590557 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442282 S 95 1 0 "" dgv4343n71 2 150407804 150520563 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875283,nsv875284 M 6533 0 2 "" IS31207,IS40224 nsv438372 2 150434254 150435612 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471170,nssv471169 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA07055 esv271507 2 150461223 150461308 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516072 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv2446738 2 150466426 150467932 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342389 S 1 0 1 "" NA18507 dgv16e194 2 150467357 150468044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2045668,esv2193379 M 1 0 1 "" NA18507 esv5840 2 150467554 150467859 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28281 S 1 0 1 "" SJK esv268473 2 150472477 150472816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558201,essv2565774,essv2525879,essv2542279,essv2536535,essv2545453,essv2577259,essv2521616,essv2525421,essv2550334,essv2535186,essv2544504,essv2520325,essv2547385,essv2578013,essv2562720,essv2569440,essv2558839,essv2536839,essv2553013,essv2565164,essv2534887,essv2561284,essv2519818,essv2566305,essv2531093,essv2532495,essv2528788,essv2541574,essv2535583,essv2572335,essv2559294,essv2562253,essv2539422,essv2534169,essv2578264,essv2533550,essv2567106,essv2566668,essv2573511,essv2543348,essv2577150,essv2571973,essv2529804,essv2545226,essv2536339,essv2538094 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA10851,NA11829,NA11918,NA11919,NA11920,NA12003,NA12043,NA12144,NA12156,NA12234,NA12249,NA12414,NA12716,NA12717,NA12761,NA18507,NA18508,NA18516,NA18517,NA18542,NA18558,NA18561,NA18562,NA18566,NA18572,NA18573,NA18576,NA18579,NA18592,NA18608,NA18609,NA18638,NA18909,NA18912,NA18916,NA18940,NA18944,NA18947,NA18948,NA18964,NA18965,NA18970,NA18973,NA19093,NA19172 nsv459729 2 150557773 150595803 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536447 S 1557 0 1 "" 1780854464_A esv995661 2 150565513 150565582 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571256 S 3 0 1 "" HuRef nsv875285 2 150612917 150694011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554760 S 6533 0 1 "" MS20969 nsv469524 2 150635746 150785166 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649587 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv834412 2 150722516 150824884 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442285,nssv1442283 M 95 1 1 "" nsv523180 2 150727487 150730290 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698893 S 2026 0 1 "" nsv2967 2 150735075 150747347 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4468 S 9 0 1 "" NA12878 esv2597607 2 150738279 150739881 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211825 S 1 0 1 "" NA18507 nsv498939 2 150739383 150746495 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585800 S 9 0 1 "" esv26082 2 150739394 150746450 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21097 S 451 0 2 "" NA12489,NA12878 nsv441789 2 150739697 150745976 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421344 2 150739697 150745978 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131398,essv5080339,essv5102299,essv5140051,essv5045328,essv5072618,essv5030075,essv5018431,essv5036978,essv5034067,essv5133767,essv5149109,essv5078830,essv5071815,essv5049608,essv5119331,essv5083599,essv5064339,essv5119842,essv5157331,essv5031884,essv5096583,essv5012463,essv5064886,essv5053000,essv5067251,essv5075050,essv5076216,essv5015753,essv5063853,essv5147684,essv5041606 M 1184 0 32 "" NA10846,NA10850,NA11918,NA12145,NA12273,NA12489,NA12878,NA12892,NA18158,NA19651,NA19669,NA19676,NA19678,NA19759,NA19761,NA19770,NA19773,NA20279,NA20581,NA20586,NA20756,NA20760,NA20761,NA20765,NA20786,NA20803,NA20809,NA20815,NA20828,NA20845,NA20907,NA21105 nsv513731 2 150761375 150770106 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626983 S 1 1 0 "" 1 nsv518518 2 150771972 150772411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695959 S 2026 0 1 "" nsv2968 2 150785066 150797951 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7562 S 9 0 1 "" NA12156 esv1392170 2 150814529 150814589 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764801 S 2 0 1 "" HuRef nsv834414 2 150917620 151121555 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442286 S 95 1 0 RND3 nsv834415 2 151082500 151266895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442287,nssv1442288 M 95 2 0 "" nsv821752 2 151102285 151102857 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436450,nssv1424839 M 31 0 2 "" AK2,NA18542 esv275405 2 151120874 151126675 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585734,essv2585776 M 1250 1 1 "" nsv512782 2 151154885 151156018 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625414 S 1 1 0 "" 1 esv275419 2 151155309 151160288 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585416,essv2585418 M 1250 1 1 "" nsv2969 2 151165295 151194699 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4470 S 9 1 0 "" NA12878 dgv1267e1 2 151165523 151552456 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22918,esv826 M 271 0 0 "" NA12760 essv17413 2 151210785 151458219 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12760 nsv834416 2 151226030 151408158 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442290,nssv1442289,nssv1442291 M 95 1 2 "" esv35134 2 151250738 151449738 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978896,essv6978897,essv6990299,essv6990300,essv6986744 M 771 1 0 "" NA12760 nsv2970 2 151314511 151345310 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5824 S 9 1 0 "" NA19129 nsv214745 2 151349590 151349842 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233323 M 24 "" nsv875286 2 151393497 151440196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554362 S 6533 0 1 "" MS20753 nsv525350 2 151419946 151753040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701469 S 2026 0 1 "" esv34659 2 151423126 153424992 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989180,essv6987802,essv6987803,essv6980508,essv6980509,essv6980510,essv6980511,essv6980512 M 771 0 1 ARL5A,ARL6IP6,CACNB4,FMNL2,MIR4773-1,MIR4773-2,NEB,NMI,PRPF40A,RBM43,RIF1,STAM2,TNFAIP6 NA19203 nsv515610 2 151423937 151426379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671296,nssv664083,nssv681122 M 2026 0 3 "" nsv523849 2 151426379 151851770 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699683 S 2026 1 0 NMI,RBM43 nsv2971 2 151434047 151478671 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7563 S 9 0 1 "" NA12156 nsv528766 2 151482889 151484462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705430 S 2026 0 1 "" nsv498940 2 151493460 151497484 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585801 S 9 0 1 "" dgv669n67 2 151493462 151497491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821753,nsv821755 M 31 0 3 "" AK12,AK4,NA18969 nsv514097 2 151493664 151497408 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627164 S 1414 0 1 "" esv32701 2 151503809 151514459 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100878 S 51 0 1 "" 21656 esv269407 2 151517158 151517243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514664,essv2514188 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12043 esv1676395 2 151525729 151525800 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944050 S 2 0 1 "" HuRef nsv512783 2 151530473 151531264 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625415 S 1 1 0 "" 1 nsv438373 2 151572317 151578054 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471171,nssv471172 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19203,NA19205 nsv437297 2 151577417 151581807 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467178 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 esv998123 2 151610300 151610655 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565819 S 3 0 1 "" HuRef esv2585348 2 151610621 151611927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267548 S 1 0 1 "" NA18507 esv2126528 2 151611153 151611786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4633895 S 1 0 1 "" NA18507 esv3148 2 151611300 151611753 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25589 S 1 0 1 Single Asian sample YH "" YH esv2574385 2 151611330 151611605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194754 S 1 0 1 "" NA18507 nsv213556 2 151611330 151611605 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232134 M 24 "" esv5599 2 151611332 151611606 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28040 S 1 0 1 "" SJK esv1009401 2 151611332 151611607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579856 S 3 0 1 "" HuRef esv269204 2 151634300 151634646 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502342,essv2496875,essv2510564,essv2503065,essv2496427,essv2497147,essv2507674,essv2505734,essv2507124,essv2502450,essv2506511,essv2509562,essv2493511,essv2498763,essv2499667,essv2495748 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA12004,NA18498,NA18501,NA18507,NA18510,NA18552,NA18576,NA18861,NA18870,NA18948,NA19108,NA19129,NA19137,NA19138,NA19225 nsv834417 2 151688719 151863196 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442292 S 95 1 0 NMI,RBM43 esv1713971 2 151698272 151698272 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013538 S 2 1 0 "" HuRef esv4434 2 151749416 151749913 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26875 S 1 0 1 Single Asian sample YH "" YH esv1009165 2 151749451 151749738 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573213 S 3 0 1 "" HuRef nsv821756 2 151865539 151866249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424507 S 31 1 0 "" NA18968 nsv2972 2 151907038 151940684 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5825 S 9 1 0 MIR4773-1,MIR4773-2,TNFAIP6 NA19129 nsv834418 2 151914049 152093762 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442293 S 95 1 0 MIR4773-1,MIR4773-2,NEB,RIF1,TNFAIP6 esv2467988 2 152026016 152027641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370701 S 1 0 1 RIF1 NA18507 nsv437298 2 152028364 152064607 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467179 S 60 0 1 Samples from several populations that are part of the HapMap project. NEB,RIF1 NA19205 nsv438374 2 152030341 152039664 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471174,nssv471173 M 269 0 2 Samples from several populations that are part of the HapMap project. RIF1 NA19203,NA19205 nsv2973 2 152054750 152115766 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2297,nssv10243 M 9 2 0 NEB NA18555,NA18956 nsv10198 2 152078314 152171890 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12210 S 31 0 1 Samples from several populations that are part of the HapMap project. NEB NA19221 nsv2974 2 152109741 152207701 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2299,nssv4471 M 9 0 2 NEB NA12878,NA18555 nsv469804 2 152112675 152279128 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649825 M 265 0 0 Samples from several populations that are part of the HapMap project. NEB nsv2975 2 152128698 152156853 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10244 S 9 1 0 NEB NA18956 nsv471510 2 152142600 152174383 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547869,nssv547868,nssv547870 M 3 NEB esv27088 2 152144021 152172216 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14836 S 451 1 0 NEB NA19190 nsv508173 2 152144539 152151508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622820 S 4 0 1 NEB NA18994 nsv226 2 152165343 152188842 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv226 S 1 1 0 NEB NA15510 nsv2976 2 152165343 152188842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11023 S 9 1 0 NEB NA15510 nsv2978 2 152256088 152289700 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3034 S 9 1 0 NEB NA18555 nsv507040 2 152303236 152309236 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620734,nssv617572,nssv621669,nssv623355 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2592137 2 152324891 152326611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213066 S 1 0 1 "" NA18507 esv2026587 2 152325336 152326067 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590662 S 1 0 1 "" NA18507 esv4737 2 152325493 152325994 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27178 S 1 0 1 Single Asian sample YH "" YH esv2473260 2 152325535 152325849 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201312 S 1 0 1 "" NA18507 esv1582698 2 152325547 152325862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183716 S 2 0 1 "" HuRef nsv820167 2 152377090 152382062 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419674 S 2 0 1 ARL5A AK1 esv1010582 2 152400484 152410028 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563636 S 3 0 1 CACNB4 HuRef dgv4344n71 2 152422926 152891892 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875287,nsv875288,nsv875289 M 6533 3 0 CACNB4,STAM2 SP56863,SP81345,SP81381 esv3709 2 152431507 152431742 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26150 S 1 0 1 Single Asian sample YH CACNB4 YH esv259817 2 152443326 152443612 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394876,essv2394406,essv2397480,essv2395455,essv2397774,essv2396987 M 144 0 0 Samples from several populations that are part of the HapMap project. CACNB4 NA18942,NA18943,NA18947,NA18948,NA18956,NA18973 nsv7331 2 152504635 156578012 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1544 S 9 0 0 ARL6IP6,CACNB4,FMNL2,GALNT13,KCNJ3,PRPF40A,RPRM,STAM2 NA19240 esv2649483 2 152506583 152508424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381591 S 1 0 1 CACNB4 NA18507 esv2076247 2 152506621 152507602 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973907 S 1 0 1 CACNB4 NA18507 nsv875290 2 152511375 152628372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544503 S 6533 0 1 CACNB4 MS16361 esv992466 2 152639398 152639467 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585379 S 3 0 1 CACNB4 HuRef nsv459740 2 152694287 152753282 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536458 S 1557 0 1 STAM2 NINDS_166 nsv821757 2 152712422 152712901 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434277 S 31 1 0 STAM2 NA18570 esv1083817 2 152810543 152810543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881208 S 2 1 0 "" HuRef esv1987992 2 152861457 152861920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874854 S 1 0 1 "" NA18507 esv4680 2 152861619 152861807 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27121 S 1 0 1 Single Asian sample YH "" YH esv997180 2 152861649 152861735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567206 S 3 0 1 "" HuRef esv1153669 2 152861652 152861739 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278565 S 2 0 1 "" HuRef nsv437299 2 152865289 152878637 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467180 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18914 nsv834419 2 152887666 153089722 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442294,nssv1442297 M 95 1 1 FMNL2 esv2436407 2 152913134 152914683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317086 S 1 0 1 FMNL2 NA18507 esv1998324 2 152913378 152914101 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548999 S 1 0 1 FMNL2 NA18507 esv1007811 2 152913569 152913895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576609 S 3 0 1 FMNL2 HuRef esv1351588 2 152922340 152922430 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923655 S 2 0 1 FMNL2 HuRef esv273110 2 152956493 152956692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582210,essv2582567,essv2583100,essv2584766,essv2583718 M 7 5 0 Samples from several populations that are part of the HapMap project. FMNL2 NA12878,NA12891,NA12892,NA19239,NA19240 esv271267 2 152956493 152956803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565731,essv2540924,essv2546429,essv2521439,essv2526293,essv2542215,essv2536621,essv2522740,essv2544138,essv2570949,essv2568228,essv2545575,essv2531710,essv2577331,essv2548436,essv2521605,essv2576586,essv2550825,essv2525215,essv2535088,essv2554280,essv2544547,essv2520395,essv2547512,essv2558464,essv2564571,essv2553662,essv2564016,essv2530764,essv2537499,essv2528242,essv2547040,essv2557421,essv2557235,essv2532144,essv2569603,essv2558809,essv2544960,essv2562803,essv2552972,essv2542786,essv2540449,essv2524366,essv2565054,essv2561052,essv2539812,essv2519615,essv2522076,essv2566183,essv2532742,essv2567686,essv2567445,essv2541788,essv2563901,essv2535814,essv2572488,essv2559363,essv2566929,essv2541919,essv2551160,essv2569121,essv2543730,essv2539262,essv2578125,essv2573090,essv2555349,essv2533602,essv2567021,essv2530064,essv2527624,essv2557665,essv2556085,essv2534250,essv2531468,essv2573631,essv2543290,essv2577175,essv2572129,essv2525732,essv2575611,essv2575182,essv2560827,essv2568567,essv2549715,essv2546134,essv2574169,essv2551239,essv2536151,essv2538075,essv2548968,essv2533211,essv2554449,essv2548016,essv2524909,essv2563291,essv2558118 M 157 96 0 Samples from several populations that are part of the HapMap project. FMNL2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12763,NA12828,NA12873,NA12878,NA12891,NA12892,NA18499,NA18501,NA18505,NA18508,NA18516,NA18526,NA18532,NA18542,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18566,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18912,NA18940,NA18942,NA18943,NA18944,NA18947,NA18949,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19099,NA19102,NA19137,NA19147,NA19225,NA19239,NA19240,NA19257 nsv875291 2 152959988 153048069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572425 S 6533 0 1 FMNL2 IS33044 nsv875292 2 153016717 153065629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518944 S 6533 0 1 FMNL2 SP80913 nsv2979 2 153046183 153077973 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2300 S 9 1 0 FMNL2 NA18555 nsv834420 2 153047892 153243706 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442298 S 95 0 1 FMNL2,PRPF40A esv270266 2 153090984 153091069 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517271 S 157 1 0 Samples from several populations that are part of the HapMap project. FMNL2 NA18970 nsv513645 2 153165622 153169638 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626897 S 1 0 0 FMNL2 1 nsv511817 2 153167824 153169780 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626470 S 1 0 1 FMNL2 1 nsv819333 2 153167925 153169715 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419328 S 2 0 1 FMNL2 AK1 nsv821758 2 153168124 153169673 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438678,nssv1439549,nssv1434278,nssv1429658,nssv1438035,nssv1424840,nssv1432688,nssv1434954,nssv1424940,nssv1428915 M 31 0 10 FMNL2 AK12,AK14,AK2,NA18537,NA18570,NA18942,NA18947,NA18951,NA18972,NA18973 nsv834421 2 153178355 153372481 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442300,nssv1442299 M 95 0 2 ARL6IP6,FMNL2,PRPF40A esv996049 2 153284828 153284828 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579480 S 3 1 0 ARL6IP6 HuRef nsv875293 2 153287146 153325666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515721 S 6533 0 1 ARL6IP6 SP56260 nsv834422 2 153297694 153451315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442302,nssv1442317,nssv1442306,nssv1442321,nssv1442310,nssv1442309,nssv1442314,nssv1442311,nssv1442313,nssv1442312,nssv1442301,nssv1442315,nssv1442319,nssv1442316,nssv1442320,nssv1442322,nssv1442303,nssv1442305,nssv1442308,nssv1442326,nssv1442325,nssv1442323,nssv1442324,nssv1442304 M 95 24 0 ARL6IP6 nsv875294 2 153315752 153441571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516500 S 6533 1 0 ARL6IP6 SP56848 dgv1268e1 2 153333165 153571603 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv783,essv6669,essv798 M 271 0 0 "" NA18608,NA18956 dgv1269e1 2 153363445 153507078 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6939,essv3430 M 271 0 0 "" NA18608,NA18956 dgv4345n71 2 153366236 153512701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875296,nsv875295 M 6533 0 8 "" SP50830,SP51422,SP53625,SP54901,SP56843,SP56878,SP58097,SP81414 nsv10199 2 153367283 153382711 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28800,nssv28150,nssv27620,nssv11738,nssv28404,nssv28466,nssv28135,nssv28814,nssv28332,nssv11547,nssv27147,nssv11593,nssv28801,nssv28434,nssv11601,nssv28385,nssv11624,nssv28896,nssv28978 M 31 19 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18563,NA18853,NA18860,NA18980,NA19132,NA19240 nsv2980 2 153368228 153515572 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10245,nssv7564 M 9 0 2 "" NA12156,NA18956 nsv498941 2 153374971 153506286 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585802 S 9 0 1 "" nsv433207 2 153376051 153468695 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463088 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv441792 2 153378432 153505030 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514098 2 153381440 153488944 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627175 S 1414 0 1 "" dgv162e55 2 153391738 153480738 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35136,esv34667 M 771 0 2 "" NA18608,NA18956 nsv818088 2 153393177 153497264 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417317 S 112 0 1 "" NA18608 nsv834423 2 153408791 153592881 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442327,nssv1442328 M 95 2 0 "" esv9511 2 153426184 153426291 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31952 S 1 1 0 "" SJK esv2628515 2 153493013 153495396 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301866 S 1 0 1 "" NA18507 nsv820847 2 153503685 153508012 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420266 S 1 0 1 "" NA10851 nsv10200 2 153503913 153508162 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28745,nssv11577,nssv29025,nssv27728,nssv28506,nssv28474,nssv28200,nssv28851,nssv28631,nssv11623,nssv11489,nssv12240,nssv28830,nssv29008,nssv11472,nssv12353,nssv28425,nssv28185,nssv28444,nssv28407,nssv28149,nssv27277,nssv28381,nssv11798,nssv28595,nssv11654 M 31 25 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv25504 2 153503982 153508012 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20971 S 451 26 4 "" NA07037,NA07045,NA11993,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv991257 2 153504239 153507743 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586302 S 3 1 0 "" HuRef nsv819628 2 153505425 153508019 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419451 S 2 1 0 "" AK1 esv1004219 2 153506650 153508002 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586989 S 3 1 0 "" HuRef nsv514099 2 153506848 153508016 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627186 S 1414 0 1 "" nsv875297 2 153570712 153665310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512792 S 6533 0 1 "" SP55630 esv269695 2 153586900 153586985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515537 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv524790 2 153605197 153607849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700782 S 2026 0 1 "" nsv508114 2 153638439 153644439 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618553,nssv622010 M 4 0 2 "" CHM,NA10860 nsv834425 2 153723891 153911570 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442337,nssv1442339,nssv1442338,nssv1442341,nssv1442335,nssv1442333,nssv1442334,nssv1442343,nssv1442331,nssv1442332,nssv1442336,nssv1442330,nssv1442342 M 95 13 0 "" nsv875298 2 153740730 153843317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572910 S 6533 0 1 "" IS33196 nsv875299 2 153766618 153912517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557861 S 6533 0 1 "" MS22959 nsv459751 2 153771184 153839089 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536469 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01261 esv2246116 2 153772622 153773114 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872760 S 1 0 1 "" NA18507 esv1533809 2 153772826 153772929 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654973 S 2 0 1 "" HuRef nsv459762 2 153793198 153852797 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536480 S 1557 0 1 "" 1780854219_A nsv517247 2 153798667 153824047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654117,nssv691792 M 2026 0 2 "" nsv526920 2 153798667 153912517 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703283 S 2026 1 0 "" nsv2981 2 153807826 153838403 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5826 S 9 1 0 "" NA19129 nsv470493 2 153824047 153887195 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547261 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00690 nsv213259 2 153860306 153866069 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231837 M 24 "" esv267518 2 153868899 153869217 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565657,essv2575976,essv2571701,essv2521257,essv2542229,essv2536538,essv2531773,essv2570435,essv2521593,essv2550606,essv2529171,essv2537628,essv2528404,essv2546908,essv2530458,essv2520950,essv2557539,essv2552684,essv2551740,essv2532154,essv2569217,essv2550250,essv2539032,essv2563003,essv2539808,essv2553462,essv2535768,essv2542055,essv2528008,essv2562305,essv2539287,essv2573242,essv2567274,essv2527639,essv2529550,essv2575453,essv2575158,essv2538592,essv2524057,essv2574768,essv2568776,essv2548110,essv2571182,essv2574402,essv2551225,essv2549105,essv2533283,essv2554644,essv2525067,essv2563329,essv2557884 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11894,NA11919,NA11920,NA12006,NA12044,NA12144,NA12155,NA12749,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18502,NA18504,NA18505,NA18508,NA18511,NA18519,NA18532,NA18563,NA18605,NA18608,NA18856,NA18907,NA18909,NA18912,NA18942,NA18947,NA18952,NA19093,NA19099,NA19102,NA19108,NA19129,NA19138,NA19147,NA19210,NA19238,NA19240,NA19257 esv272644 2 153868899 153869217 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581727,essv2582317,essv2583211,essv2584150,essv2583523 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1001066 2 153868915 153868915 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580601 S 3 1 0 "" HuRef esv1511476 2 153868931 153868931 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611202 S 2 1 0 "" HuRef nsv875300 2 153876297 153953879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574254 S 6533 0 1 "" IS33533 nsv459774 2 153879270 153912517 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536492 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00206 nsv875301 2 154039031 154128258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561953 S 6533 0 1 RPRM MS25304 dgv1270e1 2 154071324 154229030 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4792,essv2965,essv22452,essv12155,essv5530,essv6183,essv7226,essv9172,essv15605,essv15146,essv9618,essv15405,essv21022,essv7344,essv17500,essv24008,essv20253,essv24523,essv10570,essv7580,essv6868,essv4623,esv214,essv19280,essv23087,essv11617,essv22516,essv19893,essv23906,essv25007,essv15330,essv18146,essv14975,essv8128,essv19689,essv19205,essv17980,essv18721,essv1278,essv21678,essv489,essv14765,essv13512,essv12676,essv15472 M 271 0 0 "" NA06991,NA10838,NA10839,NA11882,NA11993,NA12003,NA12144,NA12248,NA12264,NA12716,NA12761,NA12762,NA12802,NA12812,NA12813,NA12814,NA12865,NA12874,NA18500,NA18505,NA18529,NA18532,NA18545,NA18547,NA18570,NA18594,NA18605,NA18620,NA18862,NA18870,NA18952,NA18981,NA18995,NA19101,NA19128,NA19129,NA19137,NA19141,NA19154,NA19159,NA19160,NA19203,NA19206,NA19240 nsv834426 2 154071357 154256214 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442344 S 95 1 0 "" nsv875302 2 154119931 154155832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514768 S 6533 0 1 "" SP56072 esv5480 2 154119948 154120254 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27921 S 1 0 1 "" SJK nsv498942 2 154154333 154161314 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585803 S 9 0 1 "" nsv2982 2 154165184 154176483 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2301 S 9 0 1 "" NA18555 nsv213488 2 154200219 154200219 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232066 M 24 "" esv2299240 2 154203011 154203591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512339 S 1 0 1 "" NA18507 esv3641 2 154203154 154203484 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26082 S 1 0 1 Single Asian sample YH "" YH esv6583 2 154203180 154203403 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29024 S 1 0 1 "" SJK nsv821759 2 154290569 154291093 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423236,nssv1439740 M 31 2 0 "" NA18592,NA18999 nsv459796 2 154291052 154346364 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536513 S 1557 0 1 "" 1780862014_A esv267706 2 154341880 154341965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513980 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv269533 2 154380195 154380532 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515932 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv519974 2 154396974 154401057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659778,nssv675794,nssv684025,nssv700955 M 2026 0 4 "" nsv875303 2 154412983 154480619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578728 S 6533 0 1 GALNT13 IS34896 esv2448327 2 154460364 154461333 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193423 S 1 1 0 GALNT13 NA18507 esv269021 2 154460808 154461150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565840,essv2576124,essv2541018,essv2521034,essv2526008,essv2542298,essv2536480,essv2522973,essv2543835,essv2556479,essv2568367,essv2523264,essv2521499,essv2550624,essv2525236,essv2554251,essv2578074,essv2553718,essv2576408,essv2520217,essv2554993,essv2530563,essv2561968,essv2528190,essv2552687,essv2551664,essv2569616,essv2536973,essv2538993,essv2527150,essv2561420,essv2544758,essv2523534,essv2552835,essv2541424,essv2538419,essv2540475,essv2524645,essv2564999,essv2560964,essv2539926,essv2549406,essv2519845,essv2566327,essv2531191,essv2532750,essv2567980,essv2528735,essv2567580,essv2541852,essv2570270,essv2563694,essv2553444,essv2535878,essv2572244,essv2559285,essv2566928,essv2568878,essv2543627,essv2528171,essv2562445,essv2539499,essv2534066,essv2578285,essv2572936,essv2555342,essv2567268,essv2530147,essv2573944,essv2527672,essv2555896,essv2522570,essv2531355,essv2573519,essv2572050,essv2525615,essv2575115,essv2538603,essv2526415,essv2530367,essv2571111,essv2546140,essv2574075,essv2551294,essv2536362,essv2533251,essv2554444,essv2524942,essv2563347,essv2557822 M 157 90 0 Samples from several populations that are part of the HapMap project. GALNT13 NA06986,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12004,NA12144,NA12155,NA12156,NA12287,NA12761,NA12763,NA12814,NA12815,NA12872,NA12873,NA12874,NA12891,NA18502,NA18504,NA18508,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18947,NA18949,NA18951,NA18952,NA18956,NA18960,NA18961,NA18964,NA18973,NA18980,NA19102,NA19108,NA19114,NA19141,NA19238,NA19239,NA19240,NA19257 esv272792 2 154460811 154461151 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582364,essv2584376,essv2584400,essv2583550 M 7 4 0 Samples from several populations that are part of the HapMap project. GALNT13 NA12891,NA19238,NA19239,NA19240 esv1089043 2 154460841 154460841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230039 S 2 1 0 GALNT13 HuRef esv275575 2 154516856 154518722 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585935 S 1250 0 1 GALNT13 nsv511169 2 154594491 154608571 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626210 S 1 0 1 GALNT13 1 nsv820193 2 154601852 154607820 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419746 S 2 1 0 GALNT13 AK1 esv1008587 2 154603324 154609011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564895 S 3 0 1 GALNT13 HuRef nsv821760 2 154603681 154607671 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422469,nssv1429659,nssv1424843,nssv1434955,nssv1426501 M 31 0 5 GALNT13 AK14,AK2,AK6,NA18552,NA18942 nsv820980 2 154603681 154608010 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420267 S 1 0 1 GALNT13 NA10851 esv28933 2 154603861 154607559 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10936 S 451 34 1 GALNT13 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv511818 2 154603880 154607834 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626471 S 1 0 1 GALNT13 1 dgv670n67 2 154604529 154607369 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821763,nsv821761 M 31 0 4 GALNT13 AK12,AK20,NA18969,NA18997 nsv821762 2 154604529 154608010 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432689 S 31 1 0 GALNT13 NA18972 nsv508115 2 154604576 154610576 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622011 S 4 0 1 GALNT13 NA10860 esv33780 2 154605021 154606972 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101526,essv101257,essv98293,essv96894,essv95321,essv95783,essv99121,essv92902,essv93756,essv97272,essv93206,essv98051,essv100375 M 51 0 13 GALNT13 21603,21618,21772,21817,21872,21911,21938,21939,21972,22075,22170,22259,22300 nsv433208 2 154652950 154725951 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463089 S 9 0 1 GALNT13 NA15510 nsv2983 2 154657302 154685894 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2302 S 9 1 0 GALNT13 NA18555 esv2350918 2 154674867 154675280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955645 S 1 0 1 GALNT13 NA18507 nsv834427 2 154732251 154907627 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442345 S 95 0 1 GALNT13 nsv834428 2 154762671 154784597 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442346,nssv1442349,nssv1442348,nssv1442347 M 95 1 3 GALNT13 nsv518339 2 154780249 154780385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695768 S 2026 0 1 GALNT13 esv1519312 2 154863355 154863476 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186273 S 2 0 1 GALNT13 HuRef nsv875304 2 154914343 154978377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538077 S 6533 0 1 GALNT13 MS13480 nsv459829 2 154921864 154953507 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536521 S 1557 0 1 GALNT13 1798860114_A nsv459851 2 154944580 154965766 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536522 S 1557 0 1 GALNT13 1780862109_A esv269323 2 154951969 154952291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494337,essv2507090 M 157 2 0 Samples from several populations that are part of the HapMap project. GALNT13 NA18502,NA18870 esv2445706 2 155024813 155026147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212856 S 1 0 1 "" NA18507 nsv470495 2 155027061 155067498 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547262 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00639 nsv459862 2 155029075 155080308 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536530 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00639 nsv875305 2 155061957 155098866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550782 S 6533 0 1 "" MS18620 nsv518171 2 155079023 155080308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695592 S 2026 0 1 "" nsv821764 2 155081970 155082689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440927,nssv1438679,nssv1439550,nssv1435743,nssv1440227,nssv1428917 M 31 0 6 "" AK12,NA18537,NA18564,NA18566,NA18969,NA18973 nsv519386 2 155142477 155155961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681740,nssv655771 M 2026 0 2 "" nsv522621 2 155155961 155167292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706017 S 2026 0 1 "" nsv818090 2 155173819 155191183 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416324 S 112 0 1 "" NA18855 nsv818091 2 155182601 155191183 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416325 S 112 0 1 "" NA18857 nsv834429 2 155227842 155387532 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442350 S 95 1 0 KCNJ3 nsv875306 2 155264822 155356767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556552 S 6533 0 1 KCNJ3 MS22104 nsv875307 2 155300656 155356767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532644 S 6533 0 1 KCNJ3 MS10802 nsv875308 2 155313983 155345484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582916 S 6533 0 1 KCNJ3 IS36219 nsv2984 2 155323348 155345551 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5827 S 9 1 0 KCNJ3 NA19129 nsv214008 2 155503933 155503933 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232586 M 24 "" nsv214789 2 155503944 155503944 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233367 M 24 "" esv24788 2 155527219 155538396 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21378 S 451 0 1 "" NA12878 nsv875309 2 155553198 155789325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601182 S 6533 0 1 "" IS41982 esv4461 2 155599350 155599799 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26902 S 1 0 1 Single Asian sample YH "" YH esv7531 2 155599445 155599734 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29972 S 1 0 1 "" SJK nsv875310 2 155647853 155827123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546059 S 6533 0 1 "" MS17114 nsv875311 2 155778762 155886193 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599270 S 6533 1 0 "" IS41524 nsv875312 2 155811495 155941148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506243 S 6533 0 1 "" SP54095 esv2512808 2 155895698 155897173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307338 S 1 0 1 "" NA18507 esv1670685 2 155896367 155896549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960956 S 2 0 1 "" HuRef nsv875313 2 155996498 156067779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568619 S 6533 0 1 "" IS31323 nsv821630 2 156005053 156175483 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421351,nssv1421353 M 31 0 2 "" esv25188 2 156067226 156067762 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19771 S 451 2 0 "" NA12489,NA19129 esv2189380 2 156093391 156093808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597494 S 1 0 1 "" NA18507 nsv214273 2 156093650 156093706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232851 M 24 "" dgv4346n71 2 156113027 156324389 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875315,nsv875314 M 6533 0 2 "" IS30522,IS41224 nsv2985 2 156119850 156154216 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1546 S 9 1 0 "" NA19240 dgv1271e1 2 156145035 156307673 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv362,essv11828 M 271 0 0 "" NA18521 nsv470496 2 156182059 156279553 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547263 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01061 nsv2986 2 156216238 156245176 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4472,nssv3035 M 9 2 0 "" NA12878,NA18555 esv1009812 2 156235136 156236889 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565666 S 3 1 0 "" HuRef dgv4347n71 2 156239027 156302579 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875317,nsv875316 M 6533 0 2 "" IS35018,MS23257 nsv459873 2 156249416 156265986 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536537 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00779 nsv875318 2 156372070 156567842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578729 S 6533 0 1 "" IS34896 esv269326 2 156388772 156388928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501147,essv2493584,essv2497686 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18517,NA19147 nsv875319 2 156390903 156503660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534097,nssv1536762 M 6533 0 2 "" MS11467,MS12947 nsv523011 2 156396426 156400362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698686 S 2026 0 1 "" esv2285949 2 156458337 156458809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902400 S 1 0 1 "" NA18507 nsv818092 2 156460167 156484212 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415620 S 112 0 1 "" NA12248 dgv4348n71 2 156462301 156567842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875320,nsv875321,nsv875323,nsv875322 M 6533 0 11 "" IS35911,IS36640,IS40890,IS41909,IS41926,IS41939,IS41955,MS22146,MS22353,MS22993,MS23531 nsv834430 2 156467309 156636191 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442353,nssv1442352 M 95 2 0 "" nsv818093 2 156475079 156503660 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415814 S 112 0 1 "" NA11992 nsv519097 2 156527831 156551070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696571 S 2026 0 1 "" esv29766 2 156541942 156544979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21034 S 451 0 1 "" NA12287 esv990800 2 156590001 156601339 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564739 S 3 0 1 "" HuRef nsv875324 2 156627584 156644004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550915 S 6533 0 1 "" MS18658 nsv875325 2 156720471 156880483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548352 S 6533 0 1 "" MS17817 nsv508174 2 156734647 156791769 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622821 S 4 0 1 "" NA18994 esv259944 2 156759414 156759768 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399903,essv2400655,essv2396138 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18510,NA18523 nsv524755 2 156761495 156763620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700746 S 2026 0 1 "" esv1179762 2 156785371 156785594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245056 S 2 0 1 "" HuRef esv995163 2 156921422 156931839 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565695 S 3 0 1 "" HuRef nsv2987 2 157007946 157052449 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4655 S 9 0 1 GPD2 NA19129 esv1213858 2 157055728 157055777 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232825 S 2 0 1 GPD2 HuRef esv2622933 2 157056695 157058028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367209 S 1 0 1 GPD2 NA18507 nsv875326 2 157119244 157164482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517959 S 6533 0 1 GPD2 SP57418 nsv214820 2 157125824 157133748 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233398 M 24 GPD2 nsv834431 2 157135454 157296913 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442354 S 95 0 1 GPD2 esv270033 2 157199938 157200282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514043,essv2515617,essv2518068 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12815,NA12872 nsv523145 2 157205109 157210762 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698853 S 2026 1 0 "" nsv507041 2 157217248 157223248 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621670 S 4 1 0 "" NA10860 esv2426898 2 157369036 157369965 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186038 S 1 1 0 "" NA18507 esv273814 2 157369462 157369663 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580752,essv2579013,essv2579755 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269296 2 157369468 157369553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513962,essv2518872 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19239 esv32911 2 157390188 157390511 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93717 S 51 0 1 "" 21972 nsv875327 2 157449016 157546116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569568 S 6533 0 1 "" IS31634 nsv517745 2 157506082 157509778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672420,nssv689144,nssv684078,nssv653082 M 2026 0 4 "" nsv518087 2 157506082 157546116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695500 S 2026 0 1 "" esv270610 2 157598646 157598787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512588,essv2505321,essv2507194 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18853,NA18870 nsv875328 2 157702134 157845179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591473,nssv1562588 M 6533 0 2 GALNT5 IS38846,MS25669 esv273355 2 157736115 157736587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580007 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv269774 2 157736361 157736518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495437,essv2493420,essv2494320,essv2493179,essv2494632,essv2494963,essv2506104,essv2503279,essv2494628,essv2500630,essv2505352,essv2505815,essv2507042,essv2513410,essv2509248,essv2503682,essv2495157,essv2501416,essv2504713,essv2506462,essv2499071,essv2510877,essv2497702,essv2510448,essv2501856,essv2502140,essv2499538 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11919,NA12763,NA18502,NA18504,NA18519,NA18520,NA18523,NA18542,NA18550,NA18571,NA18853,NA18861,NA18870,NA18907,NA18909,NA18960,NA18964,NA19093,NA19099,NA19108,NA19114,NA19116,NA19147,NA19172,NA19239,NA19257 nsv834432 2 157861787 158034887 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442356,nssv1442355 M 95 2 0 CYTIP,ERMN,GALNT5 esv2518040 2 157882529 157884060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225214 S 1 0 1 ERMN NA18507 nsv2989 2 157929987 157962399 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10246 S 9 1 0 "" NA18956 esv272072 2 157988205 157988543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565614,essv2525834,essv2542268,essv2536488,essv2543902,essv2545614,essv2544385,essv2558268,essv2578048,essv2576483,essv2555110,essv2530879,essv2561884,essv2537480,essv2528325,essv2546962,essv2523594,essv2553034,essv2541260,essv2538227,essv2542887,essv2540522,essv2524494,essv2534593,essv2539686,essv2549314,essv2559986,essv2531202,essv2532590,essv2567639,essv2541665,essv2570033,essv2535542,essv2572282,essv2559312,essv2566900,essv2542099,essv2543695,essv2562165,essv2555477,essv2567162,essv2566336,essv2530149,essv2522341,essv2531592,essv2573379,essv2543325,essv2571941,essv2525817,essv2526749,essv2558178 M 157 51 0 Samples from several populations that are part of the HapMap project. CYTIP NA10851,NA11829,NA11918,NA11919,NA11920,NA11992,NA12003,NA12414,NA12750,NA12761,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18570,NA18573,NA18576,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18909,NA18943,NA18947,NA18948,NA18949,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005 esv274629 2 157988205 157988543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582249,essv2582446,essv2583085 M 7 3 0 Samples from several populations that are part of the HapMap project. CYTIP NA12878,NA12891,NA12892 esv991352 2 158046072 158048206 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564669 S 3 1 0 "" HuRef esv2643096 2 158141307 158142837 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264381 S 1 0 1 ACVR1C NA18507 esv2329918 2 158141401 158142112 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733758 S 1 0 1 ACVR1C NA18507 esv4635 2 158141518 158141984 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27076 S 1 0 1 Single Asian sample YH ACVR1C YH esv2477101 2 158141591 158141919 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244014 S 1 0 1 ACVR1C NA18507 esv1723038 2 158141595 158141924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871222 S 2 0 1 ACVR1C HuRef esv267493 2 158159152 158159475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576668,essv2558575,essv2576203,essv2540209,essv2556981,essv2524565,essv2565184,essv2539824,essv2549504,essv2530897,essv2567615,essv2563846,essv2572212,essv2543567,essv2530182,essv2557696,essv2531488,essv2573450,essv2543043,essv2575248,essv2549936,essv2537903 M 157 22 0 Samples from several populations that are part of the HapMap project. ACVR1C NA07000,NA12154,NA12750,NA12814,NA18489,NA18501,NA18555,NA18558,NA18563,NA18564,NA18573,NA18582,NA18603,NA18609,NA18870,NA18949,NA18953,NA18961,NA18964,NA18965,NA19102,NA19225 esv270507 2 158218571 158218929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558106,essv2540834,essv2546277,essv2526285,essv2536608,essv2522956,essv2544210,essv2570792,essv2556504,essv2568144,essv2545302,essv2523478,essv2577245,essv2570416,essv2521597,essv2576867,essv2550664,essv2525316,essv2535282,essv2554180,essv2544446,essv2552207,essv2520518,essv2547545,essv2529143,essv2577860,essv2553715,essv2565393,essv2520178,essv2563990,essv2562000,essv2537489,essv2528400,essv2547067,essv2557118,essv2532435,essv2578553,essv2539004,essv2544872,essv2523590,essv2552781,essv2541150,essv2538180,essv2540492,essv2524374,essv2565072,essv2560950,essv2539902,essv2549270,essv2519542,essv2559774,essv2522301,essv2565905,essv2532508,essv2529034,essv2567432,essv2541843,essv2569961,essv2553507,essv2535674,essv2559206,essv2569026,essv2556208,essv2562524,essv2533974,essv2578249,essv2573067,essv2555345,essv2533606,essv2555708,essv2530002,essv2574062,essv2527458,essv2557732,essv2555917,essv2531349,essv2573685,essv2543327,essv2525718,essv2575741,essv2575226,essv2560857,essv2574771,essv2571171,essv2548648,essv2533398,essv2554802,essv2547728,essv2524796,essv2563287 M 157 90 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11881,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12761,NA12763,NA12812,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18501,NA18505,NA18510,NA18519,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18861,NA18871,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18980,NA19099,NA19102,NA19137,NA19138,NA19238 esv272483 2 158218571 158218929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582162,essv2582275,essv2582846,essv2583940 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv993185 2 158231556 158235091 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564678 S 3 1 0 "" HuRef nsv517563 2 158239985 158240055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692060,nssv658578,nssv683560,nssv652366,nssv665780 M 2026 0 5 "" nsv519776 2 158240055 158250473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697044 S 2026 0 1 "" nsv527541 2 158404775 158413363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704002 S 2026 0 1 ACVR1 esv2616379 2 158427006 158428463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250139 S 1 0 1 ACVR1 NA18507 esv2223769 2 158427140 158427849 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960058 S 1 0 1 ACVR1 NA18507 esv3058 2 158427273 158427715 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25499 S 1 0 1 Single Asian sample YH ACVR1 YH esv997183 2 158427337 158427647 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567209 S 3 0 1 ACVR1 HuRef esv1694256 2 158427346 158427657 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255504 S 2 0 1 ACVR1 HuRef esv6111 2 158427347 158427654 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28552 S 1 0 1 ACVR1 SJK nsv2990 2 158453368 158487495 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7565 S 9 1 0 "" NA12156 nsv508875 2 158477029 158498231 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619293,nssv618011,nssv621179,nssv623877 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv834433 2 158480049 158627429 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442357 S 95 1 0 UPP2 esv33192 2 158480168 158481422 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100780 S 51 1 0 "" 21656 esv2563120 2 158501343 158502863 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215442 S 1 0 1 "" NA18507 esv2409308 2 158511898 158512313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848178 S 1 0 1 "" NA18507 nsv2991 2 158582010 158605761 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9580 S 9 1 0 UPP2 NA18507 nsv517458 2 158686040 158686571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689124,nssv663150,nssv688636,nssv656120,nssv661653,nssv655907,nssv664949,nssv663374,nssv686994,nssv655283,nssv652070,nssv668787,nssv661586,nssv670537,nssv693190 M 2026 0 15 UPP2 nsv519147 2 158686040 158699771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696624 S 2026 0 1 UPP2 nsv508876 2 158840488 158904873 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619294,nssv623878 M 4 2 0 CCDC148 NA10860,NA18994 nsv2992 2 158881737 158905690 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5828,nssv7566 M 9 2 0 CCDC148 NA12156,NA19129 esv24817 2 158883915 158885234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11652 S 451 0 1 CCDC148 NA12006 nsv875329 2 158911245 159261932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554435 S 6533 0 1 CCDC148,PKP4 MS20813 nsv459885 2 158958893 159034171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536546 S 1557 0 1 CCDC148,PKP4 1782681093_A esv272995 2 158990831 158990960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579344 S 7 1 0 Samples from several populations that are part of the HapMap project. CCDC148 NA19239 esv269335 2 158990849 158991013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558120,essv2540956,essv2571684,essv2521066,essv2525996,essv2542432,essv2536712,essv2531768,essv2570573,essv2525267,essv2544340,essv2547563,essv2564662,essv2564034,essv2530531,essv2531628,essv2571104,essv2563363 M 157 18 0 Samples from several populations that are part of the HapMap project. CCDC148 NA10847,NA10851,NA11831,NA11840,NA11894,NA11918,NA11919,NA11920,NA12006,NA12044,NA12156,NA12414,NA12717,NA12751,NA12828,NA12873,NA18961,NA19238 esv259726 2 159113193 159113516 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394749,essv2398607,essv2395064,essv2394892 M 144 0 0 Samples from several populations that are part of the HapMap project. PKP4 NA07357,NA10847,NA18571,NA18942 nsv834434 2 159142349 159363881 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442358 S 95 1 0 DAPL1,PKP4 nsv875330 2 159162284 159268294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557453 S 6533 0 1 PKP4 MS22705 esv21462 2 159220784 159221454 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9896 S 451 3 0 PKP4 NA18909,NA19129,NA19240 dgv4349n71 2 159227614 159268294 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875333,nsv875332,nsv875331 M 6533 0 4 PKP4 IS38352,IS41807,MS25205,SP81355 nsv821766 2 159330427 159330967 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439551,nssv1427366,nssv1424953,nssv1438680,nssv1424518,nssv1431175,nssv1424844,nssv1435744,nssv1433525,nssv1439851,nssv1422470,nssv1434956,nssv1430440,nssv1426502,nssv1424056,nssv1425601,nssv1438585,nssv1428125 M 31 18 0 "" AK10,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18582,NA18592,NA18942,NA18947,NA18968,NA18973 nsv820498 2 159330427 159331295 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420268 S 1 0 1 "" NA10851 esv23159 2 159330559 159331295 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17636 S 451 22 0 "" NA06985,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18523,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190 dgv478n27 2 159359980 159661712 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459896,nsv459907 M 1557 2 0 DAPL1,TANC1 1780862197_A,HGDP01365 esv23088 2 159370154 159371129 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16295 S 451 0 6 DAPL1 NA11931,NA11995,NA12004,NA12287,NA19099,NA19147 nsv213414 2 159370243 159371120 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231992 M 24 DAPL1 esv23383 2 159414520 159455910 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19990 S 451 1 0 "" NA19108 nsv441793 2 159418942 159438342 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv272419 2 159426837 159426922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581173 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv875334 2 159443327 159494186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525592 S 6533 1 0 "" SP56726 esv7938 2 159483354 159483427 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30379 S 1 1 0 "" SJK nsv524373 2 159584833 159585650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700285 S 2026 0 1 TANC1 nsv518893 2 159584833 159642144 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696352 S 2026 1 0 TANC1 nsv2993 2 159616929 159648754 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6879 S 9 1 0 TANC1 NA12156 dgv28n50 2 159667036 159670308 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511186,nsv511819 M 1 0 1 TANC1 1 esv1033253 2 159667423 159669692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031496 S 2 0 1 TANC1 HuRef esv1007408 2 159667466 159670614 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564060 S 3 0 1 TANC1 HuRef nsv819030 2 159667639 159669686 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419372 S 2 1 0 TANC1 AK1 nsv433277 2 159667833 159669697 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463158 S 9 0 1 Samples from several populations that are part of the HapMap project. TANC1 NA12156 esv29829 2 159668040 159669209 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12558 S 451 23 0 TANC1 NA07037,NA07045,NA11931,NA11995,NA12044,NA12239,NA12776,NA15510,NA18508,NA18511,NA18523,NA18858,NA18861,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv671n67 2 159668040 159669278 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821767,nsv821768 M 31 6 6 TANC1 AK10,AK12,AK14,AK20,AK4,NA18537,NA18552,NA18566,NA18582,NA18947,NA18997,NA18999 nsv820838 2 159668040 159669278 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420270 S 1 0 1 TANC1 NA10851 nsv514100 2 159668256 159669056 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627197 S 1414 0 1 TANC1 nsv821769 2 159668693 159669191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438036,nssv1437314,nssv1438681,nssv1434279 M 31 0 4 TANC1 NA18570,NA18949,NA18951,NA18973 esv270687 2 159718414 159718516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508368,essv2504313,essv2509904,essv2497344,essv2506320,essv2497876,essv2495173,essv2501313,essv2498977 M 157 9 0 Samples from several populations that are part of the HapMap project. TANC1 NA12749,NA18505,NA18508,NA18545,NA18566,NA18945,NA18964,NA19093,NA19114 esv259824 2 159725736 159732117 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396307 S 144 0 0 Samples from several populations that are part of the HapMap project. TANC1 NA18558 esv33791 2 159791961 159792536 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93280 S 51 1 0 TANC1 22170 esv2583620 2 159798019 159799545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321163 S 1 0 1 "" NA18507 esv259475 2 159802437 159802721 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394229,essv2393771 M 6 0 0 Samples from several populations that are part of the HapMap project. WDSUB1 NA12878,NA19238 esv259940 2 159802457 159802733 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399380,essv2399749,essv2397362,essv2395601,essv2397682,essv2396161,essv2400078,essv2394655,essv2397494,essv2398358,essv2395143,essv2396369,essv2395929 M 144 0 0 Samples from several populations that are part of the HapMap project. WDSUB1 NA12287,NA12828,NA12878,NA18501,NA18502,NA18523,NA18861,NA18870,NA18947,NA19093,NA19108,NA19138,NA19238 nsv214147 2 159802540 159802540 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232725 M 24 WDSUB1 esv1058134 2 159802552 159802552 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969866 S 2 1 0 WDSUB1 HuRef esv3946 2 159804176 159808472 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26387 S 1 0 1 Single Asian sample YH WDSUB1 YH nsv820981 2 159806049 159808637 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420271 S 1 0 1 WDSUB1 NA10851 nsv821770 2 159806049 159808637 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438682,nssv1432690,nssv1428128,nssv1434957,nssv1437315,nssv1433526,nssv1434280,nssv1435746,nssv1439554,nssv1422473,nssv1429661,nssv1439962,nssv1421561,nssv1424978,nssv1427367 M 31 0 15 WDSUB1 AK10,AK14,AK8,NA18526,NA18537,NA18552,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18972,NA18973,NA18997 esv27856 2 159806344 159808480 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15205,esv9959 M 451 24 1 WDSUB1 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18907,NA19129,NA19240 esv33532 2 159806675 159807502 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96829,essv99669,essv96378 M 51 0 3 WDSUB1 21659,22217,22371 esv1504441 2 159812647 159812647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944873 S 2 1 0 WDSUB1 HuRef esv1008546 2 159812652 159812652 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570041 S 3 1 0 WDSUB1 HuRef nsv875335 2 159833451 159910201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591642 S 6533 0 1 BAZ2B,WDSUB1 IS39011 dgv4350n71 2 159847294 159893472 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875337,nsv875336 M 6533 0 3 BAZ2B,WDSUB1 IS33830,IS35189,SP81553 nsv508175 2 159847416 159872652 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618697,nssv622822 M 4 0 2 WDSUB1 NA10860,NA18994 esv2245332 2 159848134 159848574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771375 S 1 0 1 WDSUB1 NA18507 esv1748759 2 159848325 159848420 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354763 S 2 0 1 WDSUB1 HuRef nsv436281 2 159854293 159861183 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465952 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1008010 2 159854306 159864234 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564724 S 3 0 1 "" HuRef dgv672n67 2 159856357 159856932 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821772,nsv821771,nsv821773 M 31 6 0 "" AK10,NA18526,NA18537,NA18949,NA18951,NA18969 nsv435719 2 159856713 159861609 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465953 S 2 0 1 "" NA15510 esv2479286 2 159856878 159860688 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260425 S 1 0 1 "" NA18507 nsv511820 2 159857083 159859999 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626473 S 1 0 1 "" 1 esv2128009 2 159857171 159860106 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668547 S 1 0 1 "" NA18507 nsv213684 2 159857364 159859894 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232262 M 24 "" esv1454223 2 159857372 159859903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596472 S 2 0 1 "" HuRef esv6498 2 159857374 159859890 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28939 S 1 0 1 "" SJK esv268449 2 159867222 159867558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516819,essv2516964,essv2514167,essv2514788,essv2514979,essv2515657,essv2515851,essv2517817,essv2513597 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11931,NA12043,NA12234,NA12812,NA12815,NA12873,NA12878 esv272906 2 159867222 159867558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581518 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv2994 2 159867379 159904445 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6880 S 9 0 1 BAZ2B NA12156 esv1568454 2 159889817 159889879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886857 S 2 0 1 BAZ2B HuRef nsv459918 2 159946964 159991222 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536572 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAZ2B HGDP00734 esv2445750 2 159980703 159982271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177449 S 1 0 1 BAZ2B NA18507 nsv2995 2 159996103 160029400 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4473 S 9 1 0 BAZ2B NA12878 nsv875338 2 160034171 160136833 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566140,nssv1568014,nssv1567926 M 6533 0 3 BAZ2B IS30597,IS31179,IS31187 nsv875339 2 160034171 160219093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569296 S 6533 0 1 BAZ2B IS31558 dgv4351n71 2 160034171 160393677 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875341,nsv875342,nsv875340,nsv875343 M 6533 0 4 BAZ2B,CD302,LY75,LY75-CD302,MARCH7 IS31581,IS33475,IS34896,IS40368 esv2530003 2 160116196 160117693 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257576 S 1 0 1 BAZ2B NA18507 nsv507042 2 160162081 160168081 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621671 S 4 1 0 BAZ2B NA10860 nsv2996 2 160203172 160233295 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10247 S 9 1 0 "" NA18956 nsv875344 2 160222727 160384673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599360 S 6533 0 1 CD302,LY75,LY75-CD302,MARCH7 IS41634 nsv470497 2 160259389 160401007 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547264 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD302,LY75,LY75-CD302,MARCH7 HGDP00876 esv271655 2 160270647 160270732 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516151 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv834436 2 160330587 160506021 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442359 S 95 0 1 CD302,LY75,LY75-CD302,MARCH7,PLA2R1 esv2443442 2 160331755 160333243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295861 S 1 0 1 MARCH7 NA18507 esv1001679 2 160358994 160359951 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575638 S 3 0 1 CD302,LY75-CD302 HuRef nsv437546 2 160363368 160382902 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467427 S 60 0 1 Samples from several populations that are part of the HapMap project. LY75,LY75-CD302 NA07048 esv2358013 2 160402192 160402627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842362 S 1 0 1 LY75,LY75-CD302 NA18507 esv1275142 2 160439115 160439115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694071 S 2 1 0 LY75,LY75-CD302 HuRef esv1586275 2 160439347 160439347 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931005 S 2 1 0 LY75,LY75-CD302 HuRef esv1681534 2 160439551 160439607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670817 S 2 0 1 LY75,LY75-CD302 HuRef esv6648 2 160473204 160473286 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29089 S 1 1 0 "" SJK nsv875345 2 160513828 160593688 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563233 S 6533 0 1 PLA2R1 MS25917 nsv2997 2 160549824 160594598 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7567 S 9 0 1 PLA2R1 NA12156 esv2468197 2 160563399 160564978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194767 S 1 0 1 PLA2R1 NA18507 esv2291297 2 160563912 160564630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753833 S 1 0 1 PLA2R1 NA18507 esv5014 2 160564026 160564611 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27455 S 1 0 1 Single Asian sample YH PLA2R1 YH nsv213665 2 160564098 160564420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232243 M 24 PLA2R1 esv1000137 2 160564100 160564422 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577828 S 3 0 1 PLA2R1 HuRef esv2596999 2 160564108 160564430 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184296 S 1 0 1 PLA2R1 NA18507 esv1565630 2 160564109 160564432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923972 S 2 0 1 PLA2R1 HuRef esv8839 2 160564111 160564426 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31280 S 1 0 1 PLA2R1 SJK esv2533246 2 160653858 160655208 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283770 S 1 0 1 "" NA18507 esv2115132 2 160654490 160654861 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538339 S 1 0 1 "" NA18507 nsv875346 2 160673581 160752401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505154 S 6533 1 0 ITGB6 SP53276 nsv528083 2 160707038 160723312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704619 S 2026 0 1 ITGB6 esv28901 2 160827595 160828331 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14935 S 451 1 0 "" NA12156 esv991493 2 160876352 160876447 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574690 S 3 0 1 RBMS1 HuRef esv1606282 2 160876444 160876540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708820 S 2 0 1 RBMS1 HuRef nsv821774 2 160921108 160921821 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438683 S 31 1 0 RBMS1 NA18973 nsv2998 2 160946314 160979324 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5829 S 9 1 0 MIR4785,RBMS1 NA19129 nsv3000 2 160998690 161030427 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5830 S 9 1 0 RBMS1 NA19129 nsv3001 2 161050975 161087863 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7568 S 9 0 1 RBMS1 NA12156 esv275032 2 161120821 161125026 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585654,essv2585274 M 1250 1 1 "" esv270452 2 161138441 161138799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510633,essv2494188,essv2500894,essv2513521,essv2501303,essv2497581,essv2493878 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18856,NA18907,NA19093,NA19147,NA19210 nsv507043 2 161153457 161159457 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623356 S 4 1 0 "" NA18994 nsv512784 2 161155001 161155685 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625416 S 1 1 0 "" 1 nsv3002 2 161216134 161249715 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3036 S 9 1 0 "" NA18555 esv1002453 2 161255065 161265641 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565115 S 3 0 1 "" HuRef esv2271449 2 161283552 161283981 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996441 S 1 0 1 "" NA18507 nsv3003 2 161295958 161300921 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3037 S 9 1 0 "" NA18555 esv2638142 2 161502782 161504382 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222486 S 1 0 1 "" NA18507 esv2316987 2 161503665 161504371 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544310 S 1 0 1 "" NA18507 esv4000 2 161503813 161504327 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26441 S 1 0 1 Single Asian sample YH "" YH dgv19e197 2 161503847 161504180 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2558776,esv2454620 M 1 0 1 "" NA18507 esv995545 2 161503850 161504173 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568630 S 3 0 1 "" HuRef esv1398119 2 161503856 161504180 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703131 S 2 0 1 "" HuRef nsv215356 2 161503857 161504180 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233934 M 24 "" esv9387 2 161503858 161504172 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31828 S 1 0 1 "" SJK esv2547707 2 161546352 161547821 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271955 S 1 0 1 "" NA18507 esv3563 2 161639561 161639913 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26004 S 1 1 0 Single Asian sample YH "" YH nsv834437 2 161640531 161832960 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442360 S 95 1 0 TANK nsv518357 2 161647085 161657545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695784 S 2026 0 1 "" esv6896 2 161658698 161658806 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29337 S 1 1 0 "" SJK esv2472922 2 161660089 161661093 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204399 S 1 1 0 "" NA18507 esv271780 2 161660527 161660686 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510256,essv2500878,essv2506774,essv2495412,essv2511423,essv2511196,essv2495294,essv2499331,essv2505125,essv2502335,essv2512476,essv2499429,essv2501677,essv2505499,essv2502910,essv2513165,essv2510356,essv2503418,essv2508554,essv2502603,essv2507732,essv2503808,essv2493457,essv2508877,essv2500275,essv2502793,essv2512527,essv2510699,essv2494299,essv2504287,essv2509867,essv2496384,essv2501145,essv2493614,essv2494701,essv2509040,essv2506206,essv2498297,essv2508782,essv2500429,essv2503325,essv2497325,essv2512988,essv2497167,essv2497834,essv2500023,essv2508325,essv2499869,essv2504547,essv2494504,essv2507582,essv2508165,essv2508618,essv2510058,essv2499303,essv2512845,essv2507513,essv2505274,essv2505781,essv2507250,essv2513416,essv2509171,essv2495684,essv2511688,essv2504952,essv2511116,essv2503476,essv2512335,essv2505452,essv2503712,essv2495963,essv2495146,essv2502615,essv2505612,essv2501450,essv2504735,essv2499189,essv2510943,essv2509614,essv2498921,essv2497451,essv2497065,essv2499824,essv2512187,essv2501840,essv2498216,essv2502255,essv2503656,essv2503889,essv2495033,essv2511576,essv2504364,essv2499566,essv2513065 M 157 94 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12004,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA12892,NA18489,NA18501,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18572,NA18576,NA18579,NA18592,NA18593,NA18605,NA18609,NA18638,NA18853,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18947,NA18949,NA18952,NA18960,NA18961,NA18964,NA18965,NA19005,NA19093,NA19099,NA19114,NA19116,NA19129,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272730 2 161660537 161660725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579239 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv1005143 2 161660561 161660561 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574475 S 3 1 0 "" HuRef esv1441531 2 161660578 161660578 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670872 S 2 1 0 "" HuRef nsv522246 2 161669171 161671500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695026 S 2026 0 1 "" esv270537 2 161712439 161712728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494725,essv2506040 M 157 2 0 Samples from several populations that are part of the HapMap project. TANK NA18519,NA18523 nsv507044 2 161731374 161737374 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622826 S 4 1 0 TANK NA18994 nsv3004 2 161747872 161782338 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4474 S 9 1 0 TANK NA12878 nsv437557 2 161759819 161800886 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467438 S 60 0 1 Samples from several populations that are part of the HapMap project. TANK NA07048 nsv459934 2 161768063 161954078 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536582 S 1557 0 1 PSMD14,TANK 1780862414_A esv259615 2 161791520 161791784 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394184 S 6 0 0 Samples from several populations that are part of the HapMap project. TANK NA12878 esv998796 2 161808575 161809013 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564611 S 3 1 0 "" HuRef esv4024 2 161843437 161847313 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26465 S 1 0 0 Single Asian sample YH "" YH esv21765 2 161843446 161847400 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15732,esv10992 M 451 4 1 "" NA07037,NA12044,NA12749,NA12828,NA18517 nsv821468 2 161843446 161847400 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420272 S 1 1 0 "" NA10851 esv2478244 2 161843468 161848401 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374594 S 1 1 0 "" NA18507 nsv437568 2 161905391 161933415 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467449 S 60 0 1 Samples from several populations that are part of the HapMap project. PSMD14 NA07048 nsv818094 2 161948500 161954270 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415621 S 112 0 1 PSMD14 NA12248 nsv3005 2 162004940 162049877 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7569 S 9 0 1 "" NA12156 nsv511171 2 162034445 162059018 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626232 S 1 0 1 "" 1 esv27440 2 162039479 162042198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18818,esv19969 M 451 18 0 "" NA06985,NA11995,NA12239,NA12414,NA12828,NA12878,NA18502,NA18508,NA18511,NA18523,NA18861,NA18907,NA18916,NA19114,NA19129,NA19190,NA19240,NA19257 esv2482257 2 162039719 162042786 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182185 S 1 0 1 "" NA18507 nsv820648 2 162039883 162042235 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420273 S 1 0 1 "" NA10851 nsv511821 2 162040430 162042433 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626474 S 1 0 1 "" 1 esv1473321 2 162040517 162042291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174430 S 2 0 1 "" HuRef esv5917 2 162040522 162042279 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28358 S 1 0 1 "" SJK nsv3006 2 162168699 162200294 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5832 S 9 1 0 SLC4A10 NA19129 nsv508116 2 162176938 162182938 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622012,nssv623879,nssv621535,nssv618554 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv834438 2 162188045 162347093 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442361 S 95 1 0 SLC4A10 dgv4352n71 2 162188930 162235217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875347,nsv875349,nsv875348 M 6533 0 3 SLC4A10 SP50652,SP53687,SP56004 nsv3007 2 162196730 162241601 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7570 S 9 0 1 SLC4A10 NA12156 nsv875350 2 162197780 162257345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513180 S 6533 0 1 SLC4A10 SP55694 nsv875351 2 162209701 162232301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518207 S 6533 0 1 SLC4A10 SP57472 esv1338019 2 162260992 162261385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238770 S 2 0 1 SLC4A10 HuRef nsv875352 2 162309438 162339583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517960 S 6533 0 1 SLC4A10 SP57418 esv268607 2 162326882 162327286 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510069 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC4A10 NA18593 nsv519410 2 162337215 162348971 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696838 S 2026 1 0 SLC4A10 esv268701 2 162473463 162473578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494852,essv2505930,essv2507430 M 157 3 0 Samples from several populations that are part of the HapMap project. SLC4A10 NA18519,NA18861,NA18912 esv2646896 2 162522474 162524228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367420 S 1 0 1 SLC4A10 NA18507 nsv3008 2 162531110 162562957 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9581,nssv10248 M 9 2 0 DPP4,SLC4A10 NA18507,NA18956 nsv819853 2 162549167 162549774 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419023 S 2 1 0 SLC4A10 AK1 nsv834439 2 162621874 162788212 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442363,nssv1442364 M 95 2 0 DPP4,FAP,GCG nsv508117 2 162696917 162702917 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618555 S 4 0 1 "" CHM nsv834440 2 162710514 162883584 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442365,nssv1442367,nssv1442366 M 95 3 0 FAP,GCG,IFIH1 nsv3009 2 162737582 162770306 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6881 S 9 1 0 FAP NA12156 dgv4353n71 2 162837070 163158310 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875353,nsv875355,nsv875356 M 6533 0 3 GCA,IFIH1,KCNH7 IS33738,MS25617,MS25963 nsv875354 2 162860597 163001214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584917 S 6533 0 1 GCA,IFIH1,KCNH7 IS37194 esv1006625 2 163018316 163025201 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563976 S 3 0 1 KCNH7 HuRef nsv875357 2 163066783 163173944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559519 S 6533 0 1 KCNH7 MS24011 nsv3011 2 163094181 163127147 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4475 S 9 1 0 KCNH7 NA12878 esv2596964 2 163263395 163264945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306734 S 1 0 1 KCNH7 NA18507 nsv875358 2 163273577 163539606 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509112 S 6533 1 0 KCNH7 SP54750 esv270053 2 163315072 163315227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510749,essv2494272,essv2504210,essv2496411,essv2505299,essv2500934,essv2507232,essv2513426,essv2501291,essv2509485,essv2512174,essv2497979,essv2502187 M 157 13 0 Samples from several populations that are part of the HapMap project. KCNH7 NA18501,NA18502,NA18505,NA18510,NA18853,NA18856,NA18870,NA18907,NA19093,NA19129,NA19238,NA19240,NA19257 esv273848 2 163315090 163315247 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584142,essv2583805 M 7 2 0 Samples from several populations that are part of the HapMap project. KCNH7 NA19238,NA19240 esv2130433 2 163317504 163317949 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734096 S 1 0 1 KCNH7 NA18507 esv274108 2 163352754 163352941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580652 S 7 1 0 Samples from several populations that are part of the HapMap project. KCNH7 NA19238 esv2044759 2 163374463 163375158 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939942 S 1 0 1 KCNH7 NA18507 esv3985 2 163374591 163375147 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26426 S 1 0 1 Single Asian sample YH KCNH7 YH nsv214757 2 163374668 163374982 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233335 M 24 KCNH7 esv9501 2 163374670 163374967 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31942 S 1 0 1 KCNH7 SJK esv2558699 2 163386388 163387476 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233277 S 1 1 0 KCNH7 NA18507 esv273010 2 163386843 163387043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580156,essv2580392,essv2579915,essv2580551,essv2578981,essv2579400 M 7 6 0 Samples from several populations that are part of the HapMap project. KCNH7 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv270107 2 163386845 163387180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557931,essv2565854,essv2576100,essv2540742,essv2546255,essv2526286,essv2543805,essv2570961,essv2556757,essv2568303,essv2545330,essv2523470,essv2531793,essv2577229,essv2570696,essv2548415,essv2576537,essv2550815,essv2525294,essv2550457,essv2544293,essv2520487,essv2547281,essv2564760,essv2577812,essv2559461,essv2576330,essv2563984,essv2530860,essv2561993,essv2537309,essv2528337,essv2547065,essv2520817,essv2561524,essv2523569,essv2552925,essv2541146,essv2538203,essv2542969,essv2540417,essv2524445,essv2549339,essv2519674,essv2559792,essv2522247,essv2565963,essv2530902,essv2532809,essv2528703,essv2567441,essv2569964,essv2563902,essv2553234,essv2535863,essv2572535,essv2559300,essv2543524,essv2556145,essv2527922,essv2578351,essv2555412,essv2567253,essv2566450,essv2530183,essv2527565,essv2555880,essv2534390,essv2522651,essv2531403,essv2577009,essv2571890,essv2575007,essv2538729,essv2560742,essv2523953,essv2574568,essv2572614,essv2571246,essv2536314,essv2537790,essv2549071,essv2554753,essv2547910,essv2563504 M 157 85 0 Samples from several populations that are part of the HapMap project. KCNH7 NA06986,NA07000,NA07037,NA07346,NA07347,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11918,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12234,NA12414,NA12716,NA12717,NA12751,NA12761,NA12776,NA12814,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18523,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18870,NA18871,NA18907,NA18940,NA18943,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18970,NA18973,NA19102,NA19108,NA19116,NA19129,NA19138,NA19143,NA19238 nsv213705 2 163386873 163386873 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232283 M 24 KCNH7 esv275307 2 163452610 163468908 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585264,essv2585142 M 1250 1 1 "" esv274924 2 163597532 163604069 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585816,essv2585386 M 1250 1 1 "" nsv875359 2 163604094 163917826 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509113 S 6533 1 0 "" SP54750 esv4056 2 163852347 163852706 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26497 S 1 0 1 Single Asian sample YH "" YH nsv834441 2 163855284 164029300 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442368 S 95 0 1 "" esv2069301 2 163873271 163873669 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800601 S 1 0 1 "" NA18507 nsv518800 2 163881316 163881403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696253 S 2026 0 1 "" nsv3012 2 163906849 163940879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3038 S 9 1 0 "" NA18555 nsv459935 2 163984181 164050935 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536583 S 1557 0 1 "" 1780862404_A esv270379 2 163996709 164002804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497763,essv2507681,essv2508122,essv2508604,essv2511664,essv2497874 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18555,NA18576,NA18579,NA18592,NA18940,NA18945 nsv437579 2 164004182 164017213 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467460 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv3013 2 164039155 164062365 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10249 S 9 1 0 "" NA18956 nsv875360 2 164081222 164144891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533845 S 6533 0 1 "" MS11307 esv28683 2 164146518 164151766 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11731 S 451 0 2 "" NA18916,NA19147 nsv515668 2 164148677 164150687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677238,nssv664313,nssv685374,nssv679589,nssv663215,nssv672987,nssv657615,nssv684646,nssv670240,nssv672216,nssv684165,nssv691110,nssv662016,nssv677922,nssv685206,nssv662147,nssv689580,nssv682678,nssv655553 M 2026 0 19 "" nsv834442 2 164211894 164391872 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442370,nssv1442369,nssv1442371 M 95 3 0 FIGN esv270876 2 164219755 164219915 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509003,essv2502012 M 157 2 0 Samples from several populations that are part of the HapMap project. FIGN NA18522,NA19257 nsv213604 2 164251791 164253929 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232182 M 24 FIGN nsv875361 2 164310130 164371941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578259 S 6533 1 0 "" IS34747 dgv673n67 2 164349436 164354050 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821775,nsv821777 M 31 0 6 "" AK16,AK20,NA18947,NA18968,NA18972,NA18973 esv23773 2 164349439 164353966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19249 S 451 0 3 "" NA07037,NA18502,NA18523 nsv514101 2 164351216 164353264 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627208 S 1414 0 1 "" nsv441794 2 164351734 164353370 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421651 2 164351734 164353372 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028070,essv5079328,essv5094271,essv5030961,essv5042955,essv5028743,essv5114623,essv5057834,essv5076038,essv5108681,essv5095427,essv5089679,essv5038907,essv5119457,essv5160947,essv5023355,essv5012906,essv5064100,essv5086029,essv5092158,essv5104609,essv5085858,essv5004484,essv5061974,essv5018613,essv5016468,essv5044751,essv5086738,essv5096315,essv5044063,essv5037284,essv5040071,essv5034882,essv5032896,essv5022723,essv5035720,essv5160520,essv5144375,essv5034798,essv5159515,essv5068795,essv5027865,essv5094835,essv5100398,essv5002715,essv5075082,essv5062986,essv5063626,essv5071501,essv5065675,essv5061343,essv5022707,essv5073639,essv5103349,essv5003438,essv5053528,essv5161227,essv5086537,essv5158606,essv5099188,essv5096154,essv5057607,essv5113314,essv5094158,essv5052033,essv5025455,essv5082123,essv5116290,essv5072992,essv5142951,essv5006858,essv5040692,essv5014449,essv5068002,essv5010709,essv5027978,essv5090681,essv5088977,essv5006689,essv5072066,essv5134794,essv5023968,essv5037511,essv5036018,essv5131130,essv5045593,essv5054367,essv5103141,essv5133738,essv5066485,essv5107151,essv5037300,essv5067929,essv5079814,essv5072897,essv5122892,essv5152700,essv5113746,essv5112060,essv5044996,essv5119887,essv5078586,essv5091286,essv5117093,essv5096946,essv5041321,essv5044578,essv5153446,essv5085419,essv5094083,essv5066472,essv5025895,essv5047582 M 1184 0 113 "" NA06995,NA07000,NA07029,NA07037,NA10836,NA10845,NA10852,NA10865,NA11892,NA11930,NA12045,NA12144,NA12146,NA12234,NA12273,NA12283,NA12546,NA12718,NA12766,NA12775,NA12872,NA12873,NA17962,NA17987,NA17995,NA18101,NA18156,NA18484,NA18485,NA18486,NA18489,NA18518,NA18519,NA18576,NA18577,NA18602,NA18603,NA18618,NA18631,NA18868,NA18869,NA18917,NA18930,NA18943,NA18945,NA18947,NA18959,NA18961,NA18968,NA18973,NA18977,NA19001,NA19007,NA19055,NA19066,NA19074,NA19077,NA19079,NA19084,NA19152,NA19154,NA19213,NA19215,NA19223,NA19236,NA19247,NA19249,NA19314,NA19327,NA19393,NA19457,NA19466,NA19474,NA19678,NA19716,NA19723,NA19776,NA19909,NA19919,NA20284,NA20302,NA20345,NA20512,NA20520,NA20525,NA20529,NA20586,NA20756,NA20771,NA20772,NA20792,NA20796,NA20799,NA20806,NA20813,NA20818,NA20852,NA20861,NA20871,NA20875,NA20883,NA20897,NA21088,NA21089,NA21097,NA21099,NA21103,NA21111,NA21115,NA21118,NA21142,NA21616,NA21738 esv259565 2 164363806 164364068 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393689,essv2394364 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv875362 2 164383201 164456018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578348,nssv1569569,nssv1593726,nssv1564849,nssv1600360,nssv1558604,nssv1599845 M 6533 0 7 "" IS30311,IS31634,IS34762,IS39509,IS41802,IS41874,MS23423 nsv875363 2 164383201 164498715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546060,nssv1554916 M 6533 0 2 "" MS17114,MS21100 nsv834443 2 164406746 164553798 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442372 S 95 1 0 "" nsv519129 2 164407610 164425817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696608 S 2026 0 1 "" nsv470498 2 164407610 164439640 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547265 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01222 esv1678196 2 164629544 164629544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219432 S 2 1 0 "" HuRef esv2225952 2 164714755 164715161 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880872 S 1 0 1 "" NA18507 nsv875364 2 164764950 164921717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582917 S 6533 0 1 "" IS36219 nsv875365 2 165060651 165127255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534604 S 6533 0 1 GRB14 MS11693 nsv517875 2 165189268 165386054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695281 S 2026 0 1 COBLL1,SNORA70F nsv3014 2 165208388 165243670 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1547 S 9 1 0 "" NA19240 nsv520658 2 165324717 165355587 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697541 S 2026 0 1 COBLL1 dgv163e55 2 165332832 165447739 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751833,esv2751832 M 771 2 0 COBLL1 BEC_404,BEC_658 nsv875366 2 165373390 165435694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596834 S 6533 0 1 COBLL1 IS40657 esv2642304 2 165404373 165405558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234442 S 1 0 1 COBLL1 NA18507 esv2045841 2 165404755 165405487 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667581 S 1 0 1 COBLL1 NA18507 nsv3015 2 165417356 165449824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10250 S 9 1 0 "" NA18956 nsv834444 2 165430537 165602961 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442374,nssv1442376,nssv1442375 M 95 3 0 SLC38A11 nsv875367 2 165522989 165583661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501564 S 6533 1 0 "" SP50870 esv26470 2 165536378 165573275 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18432,esv18215 M 451 8 1 "" NA07037,NA11894,NA11931,NA12749,NA12828,NA15510,NA18502,NA18861,NA19240 dgv674n67 2 165539990 165563832 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821779,nsv821780,nsv821778,nsv821781 M 31 4 0 "" NA18582,NA18942,NA18968,NA18973 esv32917 2 165552585 165573244 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97514,essv96848,essv94024,essv95603,essv93132,essv95356,essv97329,essv101682,essv95915,essv99055,essv92869,essv95994,essv93591,essv93361,essv99737,essv97755,essv100251,essv100537,essv100331,essv98451,essv94158 M 51 0 21 "" 21616,21659,21802,21841,21863,21872,21879,21909,21911,21938,21939,22127,22128,22170,22217,22278,22286,22298,22300,22352,22394 nsv517273 2 165567243 165576723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674215,nssv691538,nssv672784,nssv654179,nssv657343,nssv652933,nssv664525,nssv680241,nssv682150,nssv690656,nssv684008,nssv671091,nssv675845,nssv662965,nssv693601,nssv674659,nssv687695,nssv680745,nssv688295,nssv690760,nssv671917,nssv686181,nssv679061,nssv689855,nssv689974,nssv654322 M 2026 0 26 "" esv33963 2 165574993 165576226 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93358 S 51 1 0 "" 22170 nsv821782 2 165589833 165590382 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424845 S 31 0 1 "" AK2 nsv511183 2 165718315 165726600 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626366 S 1 1 0 SCN3A 1 nsv435715 2 165721880 165725326 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465954 S 2 0 1 SCN3A NA15510 esv2554394 2 165722739 165726070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351689 S 1 0 1 SCN3A NA18507 esv7053 2 165722935 165724993 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29494 S 1 0 1 SCN3A SJK esv25924 2 165722938 165725072 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17246,esv21394 M 451 0 12 SCN3A NA12749,NA15510,NA18502,NA18511,NA18861,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190,NA19257 esv992100 2 165722938 165736342 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586381 S 3 1 0 SCN3A HuRef nsv213574 2 165722940 165724990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232152 M 24 SCN3A nsv821783 2 165726417 165726889 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436451 S 31 0 1 SCN3A NA18542 esv2585640 2 165756379 165757846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291666 S 1 0 1 SCN3A NA18507 nsv528928 2 165814803 165838625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705618 S 2026 0 1 SCN2A nsv526967 2 165817880 165818118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703339 S 2026 0 1 SCN2A nsv875368 2 165870951 165900979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600166,nssv1522087,nssv1542409 M 6533 0 3 SCN2A IS41853,MS15779,SP52723 dgv4354n71 2 165870951 165974880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875369,nsv875370 M 6533 0 4 SCN2A IS40890,MS20346,MS24459,MS25963 esv5728 2 165916499 165916553 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28169 S 1 1 0 SCN2A SJK esv2438390 2 165975347 165977034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164507 S 1 0 1 "" NA18507 esv1927515 2 165975567 165976283 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4561699 S 1 0 1 "" NA18507 esv5379 2 165975645 165976168 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27820 S 1 0 1 Single Asian sample YH "" YH esv7220 2 165975769 165976053 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29661 S 1 0 1 "" SJK esv1471746 2 165975769 165976092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034776 S 2 0 1 "" HuRef nsv214154 2 165975770 165976092 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232732 M 24 "" esv268147 2 166027091 166027349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545655,essv2531962,essv2553587,essv2548732,essv2554700 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA12003,NA12006,NA12763 esv272128 2 166109239 166109582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510698,essv2501154,essv2498438,essv2499081 M 157 4 0 Samples from several populations that are part of the HapMap project. CSRNP3 NA18501,NA18516,NA18858,NA19114 nsv875371 2 166161702 166242452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590446 S 6533 1 0 CSRNP3 IS38513 nsv3016 2 166162190 166192661 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5833 S 9 1 0 CSRNP3 NA19129 esv4871 2 166231053 166231616 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27312 S 1 0 1 Single Asian sample YH CSRNP3 YH nsv3017 2 166238280 166261098 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6882 S 9 0 1 CSRNP3 NA12156 esv259600 2 166309523 166309797 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394206 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1008269 2 166309616 166309616 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581365 S 3 1 0 "" HuRef esv1317802 2 166309704 166309704 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790334 S 2 1 0 "" HuRef nsv834445 2 166365143 166559908 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442377,nssv1442380,nssv1442378,nssv1442381,nssv1442379 M 95 4 1 LOC100506134,SCN1A,TTC21B nsv507045 2 166500288 166506288 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620735 S 4 1 0 LOC100506134,TTC21B NA15510 dgv4355n71 2 166593966 166876710 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875372,nsv875373 M 6533 5 0 SCN1A,SCN9A IS31768,IS35671,IS41921,IS41924,IS41964 dgv63n17 2 166594134 166595529 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437300,nsv437301 M 60 0 2 SCN1A NA18500,NA19173 nsv459936 2 166628676 166645658 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536584 S 1557 0 1 SCN1A NINDS_99 esv2357676 2 166681158 166681589 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551929 S 1 0 1 SCN1A NA18507 esv269193 2 166731571 166731851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498779 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19138 nsv459937 2 166735415 166780936 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536585 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCN9A HGDP00251 esv1997121 2 166756253 166756691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883742 S 1 0 1 "" NA18507 esv2127014 2 166766090 166766507 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981084 S 1 0 1 SCN9A NA18507 esv1764654 2 166766297 166766413 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020066 S 2 0 1 SCN9A HuRef esv23265 2 166863916 166867025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17334,esv15296 M 451 0 5 SCN9A NA18508,NA18907,NA18916,NA19108,NA19225 nsv834448 2 166868123 167056632 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442382 S 95 0 1 SCN7A,SCN9A nsv507046 2 166873508 166879508 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621672,nssv622827 M 4 2 0 SCN9A NA10860,NA18994 nsv470499 2 167021697 167081180 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547266 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCN7A HGDP00874 nsv875374 2 167034898 167084851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551084 S 6533 1 0 SCN7A MS18756 nsv508176 2 167062631 167098534 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620194,nssv622440,nssv618698 M 4 0 3 "" NA10860,NA15510,NA18994 nsv519707 2 167087505 167094838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697004 S 2026 0 1 "" esv269002 2 167109462 167109618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505206,essv2507007,essv2497510,essv2502044 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA19102,NA19147,NA19257 esv269635 2 167123559 167123899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506143,essv2494094,essv2499070 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18871,NA19114 esv2276207 2 167155977 167156461 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901806 S 1 0 1 "" NA18507 esv28424 2 167156126 167170276 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20938 S 451 1 0 "" NA19129 nsv507047 2 167163896 167169896 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617573,nssv621673 M 4 2 0 "" CHM,NA10860 nsv3018 2 167188504 167220670 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1548,nssv4476 M 9 2 0 "" NA12878,NA19240 esv23643 2 167202893 167209701 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14851 S 451 1 0 "" NA12878 nsv875375 2 167223259 167412158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540674 S 6533 1 0 "" MS14953 esv2610781 2 167258061 167262939 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209793 S 1 0 1 "" NA18507 esv1997899 2 167258262 167258725 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539400 S 1 0 1 "" NA18507 esv4132 2 167258375 167258595 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26573 S 1 0 1 Single Asian sample YH "" YH esv1372705 2 167258464 167258540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676182 S 2 0 1 "" HuRef nsv511822 2 167266769 167274241 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626475 S 1 0 1 "" 1 esv268991 2 167333309 167333394 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516704 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv2567520 2 167388640 167392145 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214894 S 1 0 1 "" NA18507 esv1504962 2 167389771 167389771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095984 S 2 1 0 "" HuRef nsv821784 2 167426651 167428288 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428920 S 31 0 1 "" AK12 nsv508177 2 167548719 167579923 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622441 S 4 0 1 XIRP2 NA18994 nsv3019 2 167552228 167578991 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10251 S 9 0 1 XIRP2 NA18956 nsv875376 2 167552759 167745735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525544 S 6533 1 0 XIRP2 SP56689 esv2512957 2 167552831 167560350 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177113 S 1 0 1 XIRP2 NA18507 esv2390072 2 167553020 167559646 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593890 S 1 0 1 XIRP2 NA18507 nsv498943 2 167553198 167559464 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585804 S 9 0 1 XIRP2 nsv214042 2 167766030 167766030 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232620 M 24 XIRP2 nsv213355 2 167778894 167779000 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231933 M 24 XIRP2 nsv875377 2 167793103 167911362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558540 S 6533 0 1 XIRP2 MS23340 nsv875378 2 167815737 168006207 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525545 S 6533 1 0 XIRP2 SP56689 esv269311 2 167846262 167846586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508272,essv2504541,essv2509969,essv2502480,essv2500743 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18561,NA18563,NA18593,NA18948,NA18973 nsv3020 2 167852022 167885464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5834 S 9 1 0 "" NA19129 nsv834449 2 168048289 168220102 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442383 S 95 1 0 "" esv269275 2 168105732 168105838 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2566802,essv2530244,essv2551305 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA19141,NA19257 nsv528466 2 168110470 168156097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705068 S 2026 0 1 "" nsv508118 2 168114199 168120199 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623880,nssv618556 M 4 0 2 "" CHM,NA18994 dgv1272e1 2 168197615 168348556 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10451,esv249 M 271 0 0 "" NA18515 nsv459940 2 168260609 168336423 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536587 S 1557 1 0 "" 1782681087_A nsv507048 2 168371929 168377929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621674 S 4 1 0 "" NA10860 nsv523543 2 168565410 168583401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699321 S 2026 0 1 STK39 esv5404 2 168604025 168604595 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27845 S 1 0 1 Single Asian sample YH STK39 YH esv275050 2 168709446 168717811 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585561,essv2585197 M 1250 1 1 STK39 esv2214356 2 168728216 168728539 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562665 S 1 0 1 STK39 NA18507 nsv3022 2 168766576 168797973 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10253 S 9 1 0 STK39 NA18956 nsv459941 2 168783218 168851281 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536588 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STK39 HGDP00520 nsv522749 2 168785033 168786780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698384 S 2026 0 1 STK39 esv999027 2 168789988 168790063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569571 S 3 0 1 STK39 HuRef esv1331913 2 168790057 168790133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589896 S 2 0 1 STK39 HuRef dgv4356n71 2 168830843 168927722 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875380,nsv875379 M 6533 2 0 "" MS13099,MS23582 esv28552 2 168843612 168854301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15886 S 451 0 1 "" NA18907 nsv515578 2 168844735 168851281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690073,nssv663946 M 2026 0 2 "" nsv428405 2 168866468 169191944 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454125 S 62 0 1 CERS6,MIR4774 HGDP00463 nsv834450 2 168899618 169089882 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442385 S 95 1 0 CERS6 esv1373796 2 168953604 168953604 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680067 S 2 1 0 "" HuRef nsv459942 2 168970113 169006740 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536589 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00463 nsv516580 2 168983991 168999635 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676109,nssv656183,nssv674027,nssv669301 M 2026 0 4 "" nsv508119 2 169006486 169012486 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618557 S 4 0 1 "" CHM dgv64n68 2 169052814 169272621 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834452,nsv834451 M 95 18 0 CERS6,MIR4774 esv2567946 2 169102995 169104540 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258481 S 1 0 1 CERS6 NA18507 esv2350302 2 169103522 169104234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696620 S 1 0 1 CERS6 NA18507 esv3263 2 169103574 169104117 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25704 S 1 0 1 Single Asian sample YH CERS6 YH esv999398 2 169103712 169104023 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567323 S 3 0 1 CERS6 HuRef esv6815 2 169103721 169104023 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29256 S 1 0 1 CERS6 SJK esv2428031 2 169103721 169104032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283114 S 1 0 1 CERS6 NA18507 esv1682076 2 169103723 169104035 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593713 S 2 0 1 CERS6 HuRef esv268464 2 169193510 169193846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503066,essv2494855,essv2509128,essv2501316,essv2493500 M 157 5 0 Samples from several populations that are part of the HapMap project. CERS6 NA18507,NA18519,NA18522,NA19093,NA19137 nsv821785 2 169295336 169296478 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424059 S 31 0 1 CERS6 NA18582 esv1983529 2 169314214 169314628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719120 S 1 0 1 CERS6 NA18507 esv4907 2 169314308 169314534 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27348 S 1 0 1 Single Asian sample YH CERS6 YH nsv215317 2 169314378 169314453 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233895 M 24 CERS6 esv1631379 2 169314379 169314455 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948313 S 2 0 1 CERS6 HuRef nsv875381 2 169394805 169458087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582430 S 6533 0 1 NOSTRIN,SPC25 IS35952 nsv516627 2 169423139 169429623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669687,nssv689871,nssv662684 M 2026 0 3 NOSTRIN nsv3023 2 169423788 169447611 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2303,nssv11024,nssv10254,nssv6884,nssv1549 M 9 5 0 NOSTRIN,SPC25 NA12156,NA15510,NA18555,NA18956,NA19240 esv999271 2 169428984 169436550 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563947 S 3 1 0 NOSTRIN,SPC25 HuRef nsv227 2 169429569 169447611 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv227 S 1 1 0 NOSTRIN,SPC25 NA15510 nsv475074 2 169432497 169432779 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557928 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv499324 2 169432497 169432779 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586354 S 9 1 0 "" nsv479251 2 169432606 169432779 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array "" S 9 "" nsv499142 2 169432606 169432779 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586355 S 9 1 0 "" esv1376089 2 169432778 169432778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021887 S 2 1 0 "" HuRef nsv459943 2 169465176 169507256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536590 S 1557 0 1 ABCB11,G6PC2 1780854449_A nsv875382 2 169500730 169528070 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583697 S 6533 0 1 ABCB11 IS36600 nsv875383 2 169530957 169541217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562478 S 6533 0 1 ABCB11 MS25617 esv1429755 2 169539912 169539912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871254 S 2 1 0 ABCB11 HuRef esv1679312 2 169540400 169540400 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340753 S 2 1 0 ABCB11 HuRef nsv875384 2 169585331 169616930 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545387 S 6533 1 0 ABCB11 MS16772 esv8790 2 169594482 169594797 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31231 S 1 0 1 ABCB11 SJK nsv528457 2 169601665 169861920 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705059 S 2026 1 0 DHRS9,LRP2 esv269418 2 169723419 169723615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2535367,essv2563803 M 157 2 0 Samples from several populations that are part of the HapMap project. LRP2 NA12249,NA18603 esv269292 2 169803249 169803465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539994,essv2520771,essv2552399,essv2569261,essv2578772,essv2539213,essv2542146,essv2526668,essv2574587,essv2530322,essv2545246 M 157 11 0 Samples from several populations that are part of the HapMap project. LRP2 NA18489,NA18498,NA18502,NA18508,NA18510,NA18519,NA18856,NA19114,NA19138,NA19141,NA19172 esv1010911 2 169808218 169820016 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564965 S 3 0 1 LRP2 HuRef nsv3024 2 169812078 169836110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4477 S 9 0 1 LRP2 NA12878 esv2639235 2 169812745 169819899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330163 S 1 0 1 LRP2 NA18507 esv2179866 2 169813177 169819598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840063 S 1 0 1 LRP2 NA18507 nsv498944 2 169813361 169819427 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585805 S 9 0 1 LRP2 nsv214965 2 169813362 169819408 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233543 M 24 LRP2 nsv834453 2 169826640 170013050 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442405 S 95 1 0 LRP2 esv2053158 2 169863694 169864090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923405 S 1 0 1 LRP2 NA18507 nsv875385 2 169992027 170081837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534098 S 6533 0 1 BBS5,KBTBD10 MS11467 nsv508178 2 169997091 170036462 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620197 S 4 0 1 "" NA15510 dgv4357n71 2 170015237 170110953 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875387,nsv875386,nsv875390 M 6533 0 6 BBS5,FASTKD1,KBTBD10 IS31137,IS40067,MS10123,MS11306,MS13095,MS24785 dgv4358n71 2 170015237 170225840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875392,nsv875388 M 6533 0 2 BBS5,C2orf77,FASTKD1,KBTBD10,PPIG IS39011,MS10737 nsv507049 2 170027917 170033917 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622828,nssv617574 M 4 2 0 "" CHM,NA18994 nsv875389 2 170028091 170076684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567351,nssv1575571 M 6533 0 2 BBS5,KBTBD10 IS31070,IS33776 dgv4359n71 2 170028091 170187550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875400,nsv875404,nsv875391,nsv875395 M 6533 0 5 BBS5,FASTKD1,KBTBD10,PPIG IS35027,IS35743,IS39090,IS41948,MS17114 nsv521651 2 170045057 170083932 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698269 S 2026 1 0 BBS5,KBTBD10 dgv4360n71 2 170045057 170123687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875405,nsv875403,nsv875396,nsv875394,nsv875393,nsv875399 M 6533 0 21 BBS5,FASTKD1,KBTBD10 IS30532,IS30589,IS30667,IS30683,IS31123,IS31225,IS31306,IS31330,IS31587,IS31706,IS31729,IS32615,IS33839,IS34856,IS35771,IS36787,IS38057,IS38216,IS39759,IS41166,MS12266 nsv518894 2 170045057 170171797 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696353 S 2026 1 0 BBS5,FASTKD1,KBTBD10,PPIG dgv4361n71 2 170048498 170098435 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875397,nsv875402 M 6533 0 9 BBS5,FASTKD1,KBTBD10 IS31045,IS31652,IS34489,IS35549,IS37065,IS40819,MS10228,MS17611,SP50672 nsv875398 2 170048498 170110953 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584977,nssv1564973,nssv1594346,nssv1580061,nssv1540790,nssv1581062,nssv1550783,nssv1562808,nssv1570479,nssv1593332 M 6533 1 9 BBS5,FASTKD1,KBTBD10 IS30330,IS32150,IS35229,IS35498,IS37226,IS39407,IS39788,MS15036,MS18620,MS25751 nsv875401 2 170051329 170085983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570037 S 6533 0 1 BBS5,KBTBD10 IS31768 nsv818095 2 170063036 170077044 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418438 S 112 0 1 BBS5,KBTBD10 NA19193 nsv875406 2 170068643 170081837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519422 S 6533 0 1 BBS5,KBTBD10 SP81024 esv1600177 2 170070715 170070764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974090 S 2 0 1 BBS5 HuRef nsv3025 2 170173949 170208641 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7571 S 9 0 1 PPIG NA12156 nsv834454 2 170179305 170339132 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442408 S 95 0 1 C2orf77,KLHL23,PHOSPHO2,PHOSPHO2-KLHL23,PPIG nsv520764 2 170194418 170197016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687211,nssv687583,nssv677449,nssv675901,nssv677615,nssv675112 M 2026 0 6 PPIG nsv10201 2 170266349 170734660 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28465 S 31 0 1 Samples from several populations that are part of the HapMap project. KLHL23,METTL5,PHOSPHO2,PHOSPHO2-KLHL23,SSB,UBR3 NA10863 esv1784706 2 170314728 170314728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059840 S 2 1 0 KLHL23,PHOSPHO2-KLHL23 HuRef esv1586748 2 170314778 170314778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614631 S 2 1 0 KLHL23,PHOSPHO2-KLHL23 HuRef esv1282362 2 170317836 170317930 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240450 S 2 0 1 "" HuRef nsv3026 2 170335588 170382531 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6885 S 9 0 1 METTL5,SSB NA12156 nsv435725 2 170345536 170352240 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465955 S 2 0 1 "" NA15510 esv2618857 2 170348866 170352668 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315642 S 1 0 1 "" NA18507 nsv511823 2 170349182 170352547 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626478 S 1 0 1 "" 1 esv998357 2 170349299 170353711 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564458 S 3 0 1 "" HuRef esv2257658 2 170349581 170352397 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908147 S 1 0 1 "" NA18507 nsv498945 2 170349753 170352209 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585806 S 9 0 1 "" esv1752107 2 170349764 170352208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884433 S 2 0 1 "" HuRef esv7784 2 170349764 170352217 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30225 S 1 0 1 "" SJK esv2457130 2 170528043 170529446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171486 S 1 0 1 UBR3 NA18507 nsv875407 2 170616879 170653446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600361 S 6533 0 1 UBR3 IS41874 esv8478 2 170700257 170700605 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30919 S 1 0 1 "" SJK esv1580725 2 170714418 170714498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294026 S 2 0 1 "" HuRef nsv3027 2 170739557 170758737 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7572 S 9 0 1 MYO3B NA12156 nsv516684 2 170788899 170790579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690657,nssv670140,nssv689539,nssv663077 M 2026 0 4 MYO3B nsv433288 2 170847740 170858971 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463169 S 9 0 1 Samples from several populations that are part of the HapMap project. MYO3B NA18956 esv2627207 2 170876428 170877777 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242896 S 1 0 1 MYO3B NA18507 nsv875408 2 170876876 170932401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520153 S 6533 1 0 MYO3B SP50709 nsv3028 2 170902997 170935897 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7573 S 9 0 1 MYO3B NA12156 nsv525740 2 170955638 170957339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701905 S 2026 0 1 MYO3B nsv834455 2 170976675 171159370 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442409 S 95 1 0 MYO3B nsv3029 2 171148329 171192987 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7574 S 9 0 1 MYO3B NA12156 nsv875409 2 171273622 171286105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510664 S 6533 0 1 LOC440925,SP5 SP54988 nsv821786 2 171276026 171282953 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432692 S 31 1 0 LOC440925,SP5 NA18972 esv26289 2 171278136 171282308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15608 S 451 0 1 LOC440925,SP5 NA12156 nsv528929 2 171380437 171386625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705619 S 2026 0 1 GAD1 nsv508179 2 171416650 171444249 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617463 S 4 0 1 GAD1 CHM nsv523717 2 171427811 171431172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699530 S 2026 1 0 "" nsv526140 2 171437889 171440743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702395 S 2026 0 1 "" nsv834456 2 171582456 171722905 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442410 S 95 0 1 TLK1 nsv3030 2 171594979 171627446 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5835 S 9 1 0 TLK1 NA19129 nsv522291 2 171743164 171752049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695073 S 2026 0 1 TLK1 nsv525857 2 172132057 172132534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702052 S 2026 0 1 "" nsv525490 2 172161946 172163179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701621 S 2026 0 1 "" nsv821788 2 172184295 172186444 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438596 S 31 0 1 "" NA18547 nsv511089 2 172268521 172342045 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624287 S 4 0 0 DYNC1I2 NA18994 nsv834457 2 172273185 172479147 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442411 S 95 0 1 DYNC1I2,SLC25A12 esv271088 2 172278934 172279144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506798,essv2513057 M 157 2 0 Samples from several populations that are part of the HapMap project. DYNC1I2 NA10847,NA11918 nsv522519 2 172294813 172308556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705889 S 2026 0 1 DYNC1I2 dgv4362n71 2 172402026 172650694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875410,nsv875411 M 6533 0 2 HAT1,METAP1D,SLC25A12 IS35771,IS38216 nsv436276 2 172539681 172549763 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465956 S 2 0 1 Samples from several populations that are part of the HapMap project. HAT1 NA18505 esv27070 2 172541083 172549062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12560 S 451 0 1 HAT1 NA19257 nsv442838 2 172543089 172548631 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HAT1 nsv514102 2 172545424 172545856 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627219 S 1414 0 0 HAT1 nsv821789 2 172556513 172557831 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424060 S 31 0 1 HAT1 NA18582 nsv821790 2 172556624 172562355 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434281 S 31 0 1 HAT1 NA18570 nsv3031 2 172575708 172592478 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7575 S 9 0 1 METAP1D NA12156 nsv875412 2 172611370 172650694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517840 S 6533 0 1 METAP1D SP57379 nsv820002 2 172613764 172618580 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419663 S 2 1 0 METAP1D AK1 dgv675n67 2 172614285 172619007 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821791,nsv821794,nsv821792,nsv821793 M 31 0 25 METAP1D AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18537,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820939 2 172614285 172619007 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420274 S 1 0 1 METAP1D NA10851 esv1004708 2 172614335 172619480 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565378 S 3 0 1 METAP1D HuRef dgv90e180 2 172614474 172618416 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991924,esv991365 M 3 0 1 METAP1D HuRef esv21895 2 172614660 172618321 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13904,esv11521 M 451 9 3 METAP1D NA06985,NA07037,NA11993,NA12287,NA12828,NA18502,NA18508,NA18916,NA19114,NA19129,NA19147,NA19190 esv2458501 2 172646506 172648007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301102 S 1 0 1 METAP1D NA18507 nsv518335 2 172681217 172682995 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695764 S 2026 0 1 "" nsv511188 2 172709304 172714277 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626421 S 1 0 1 "" 1 nsv528818 2 172709304 172721619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705492 S 2026 0 1 "" nsv435726 2 172710102 172716776 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465957 S 2 0 1 "" NA15510 esv989435 2 172712371 172717400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565504 S 3 0 1 "" HuRef nsv511824 2 172712461 172715815 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626479 S 1 0 1 "" 1 esv27283 2 172712606 172715556 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10774,esv14611 M 451 34 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv821494 2 172712606 172715556 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420275 S 1 0 1 "" NA10851 nsv511160 2 172714360 172717039 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626110 S 1 0 1 "" 1 esv1010793 2 172714418 172715556 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586575 S 3 1 0 "" HuRef nsv875413 2 172717659 172805589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559628 S 6533 0 1 "" MS24073 nsv3033 2 172771530 172816832 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7577 S 9 0 1 "" NA12156 esv2241838 2 172856099 172856534 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4824775 S 1 0 1 "" NA18507 esv989838 2 172856285 172856344 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566465 S 3 0 1 "" HuRef nsv3034 2 172868541 172908359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1550,nssv4478,nssv6886 M 9 0 3 "" NA12156,NA12878,NA19240 nsv436280 2 172887824 172894529 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465958 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv511825 2 172887883 172894490 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626480 S 1 0 1 "" 1 nsv498946 2 172888225 172894368 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585807 S 9 0 1 "" nsv875414 2 172975327 173016002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542721 S 6533 1 0 ITGA6 MS15838 nsv528899 2 172997485 172998641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705583 S 2026 0 1 "" esv269531 2 173024947 173025289 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519164,essv2515054,essv2516495,essv2517599,essv2516247,essv2516850,essv2518865,essv2518233 M 157 8 0 Samples from several populations that are part of the HapMap project. ITGA6 NA11894,NA12812,NA12814,NA12878,NA12891,NA12892,NA19239,NA19240 esv272846 2 173024952 173025284 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582098,essv2582296,essv2583176,essv2584497,essv2583429 M 7 5 0 Samples from several populations that are part of the HapMap project. ITGA6 NA12878,NA12891,NA12892,NA19239,NA19240 nsv3035 2 173127304 173172147 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7578 S 9 0 1 PDK1 NA12156 dgv4363n71 2 173152708 173212920 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875415,nsv875416 M 6533 0 7 PDK1 IS31554,IS31563,IS31581,IS35742,IS39944,IS40067,MS13292 dgv4364n71 2 173169049 173212920 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875418,nsv875417 M 6533 0 2 PDK1 IS31553,IS31728 esv269826 2 173230384 173230469 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514970,essv2515846 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA12873 esv1676225 2 173230417 173230417 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115578 S 2 1 0 "" HuRef esv274888 2 173258402 173267314 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585380 S 1250 0 1 "" esv271783 2 173261267 173261618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506791,essv2512405,essv2513124 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11918,NA12043 nsv507050 2 173268429 173274429 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620736 S 4 1 0 "" NA15510 esv269328 2 173371587 173371710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511246,essv2502305,essv2508557,essv2508394,essv2507725,essv2493418,essv2509768,essv2493792,essv2499878,essv2504505,essv2511341,essv2508674,essv2513513,essv2503571,essv2502385 M 157 15 0 Samples from several populations that are part of the HapMap project. RAPGEF4 NA11931,NA12004,NA12717,NA12749,NA12751,NA12763,NA18508,NA18517,NA18562,NA18563,NA18570,NA18592,NA18907,NA18947,NA18948 nsv834459 2 173443438 173634996 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442412 S 95 1 0 RAPGEF4 esv267517 2 173562304 173563139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510253,essv2505136,essv2502554,essv2503875 M 157 4 0 Samples from several populations that are part of the HapMap project. RAPGEF4 NA07037,NA10851,NA11995,NA12750 esv5188 2 173597129 173597690 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27629 S 1 0 1 Single Asian sample YH RAPGEF4 YH nsv834460 2 173627710 173793534 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442413 S 95 1 0 MLK7-AS1,ZAK nsv3036 2 173628477 173660861 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10255 S 9 1 0 ZAK NA18956 esv2606171 2 173637076 173638510 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363666 S 1 0 1 "" NA18507 nsv834461 2 173687980 173746717 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442414 S 95 0 1 ZAK nsv3037 2 173763120 173796360 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4480 S 9 1 0 MLK7-AS1,ZAK NA12878 nsv834462 2 173900551 174079772 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442415 S 95 0 1 CDCA7 esv2424934 2 173906343 173907793 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237437 S 1 0 1 "" NA18507 esv1986495 2 173906651 173907360 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912182 S 1 0 1 "" NA18507 esv3576 2 173906790 173907362 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26017 S 1 0 1 Single Asian sample YH "" YH esv7849 2 173906842 173907151 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30290 S 1 0 1 "" SJK nsv875419 2 173962676 174005905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539639 S 6533 0 1 "" MS14416 esv22915 2 174044054 174046560 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18937 S 451 12 0 "" NA12044,NA15510,NA18502,NA18508,NA18858,NA18861,NA18909,NA18916,NA19114,NA19129,NA19147,NA19240 esv25161 2 174125237 174125803 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14475 S 451 1 0 "" NA12489 nsv517299 2 174159937 174161239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653368,nssv654240 M 2026 0 2 "" esv2444385 2 174206210 174207719 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379037 S 1 0 1 "" NA18507 nsv875420 2 174224071 174260014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555079 S 6533 0 1 "" MS21189 dgv1273e1 2 174235573 174253446 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8587,esv877 M 271 0 0 "" NA19130 esv6847 2 174242132 174244832 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29288 S 1 0 0 "" SJK nsv441795 2 174249122 174254919 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv8254 2 174249536 174253446 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19153 dgv231n21 2 174249536 174254314 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528935,nsv521303 M 2026 0 2 "" nsv821795 2 174282274 174282757 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424847 S 31 0 1 "" AK2 nsv442839 2 174301193 174305814 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2525866 2 174310964 174311143 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338163 S 1 0 1 "" NA18507 esv7043 2 174310980 174311315 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29484 S 1 0 1 "" SJK esv2498386 2 174349110 174352172 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250981 S 1 0 1 "" NA18507 nsv3038 2 174418896 174463836 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7579 S 9 0 1 "" NA12156 nsv507051 2 174426936 174432936 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622829,nssv620737 M 4 2 0 "" NA15510,NA18994 esv2526349 2 174427330 174431388 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320758 S 1 0 1 "" NA18507 esv2342560 2 174427367 174430418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739903 S 1 0 1 "" NA18507 esv273339 2 174437075 174437416 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581224 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv821796 2 174536146 174539336 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432694 S 31 1 0 SP3 NA18972 nsv3039 2 174556919 174590029 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1551 S 9 1 0 "" NA19240 nsv520470 2 174615889 174619594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697440 S 2026 0 1 "" esv273879 2 174710753 174711014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579077 S 7 1 0 Samples from several populations that are part of the HapMap project. OLA1 NA19239 nsv3040 2 174783329 174828198 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7580 S 9 0 1 OLA1 NA12156 esv3866 2 174798775 174799312 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26307 S 1 0 1 Single Asian sample YH OLA1 YH esv991222 2 174798792 174799575 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564004 S 3 0 1 OLA1 HuRef esv5452 2 174798888 174799189 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27893 S 1 0 1 OLA1 SJK esv1187983 2 174826665 174826740 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893309 S 2 0 1 "" HuRef nsv875421 2 174872064 175047750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591644 S 6533 0 1 CIR1,GPR155,LOC285084,SCRN3,SP9 IS39011 esv2454537 2 174877212 174880836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210914 S 1 0 1 "" NA18507 dgv4365n71 2 174894026 174920186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875424,nsv875422,nsv875423 M 6533 0 3 LOC285084,SP9 SP54725,SP54988,SP55021 dgv4366n71 2 174930664 175057084 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875427,nsv875425,nsv875426,nsv875428,nsv875429 M 6533 0 5 CIR1,GPR155,SCRN3 IS31765,IS33475,IS33616,IS34407,IS35287 dgv4367n71 2 174971309 175057084 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875431,nsv875430 M 6533 0 3 GPR155,SCRN3 IS33533,IS34737,IS37428 nsv526187 2 174994117 175047750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702449 S 2026 0 1 GPR155,SCRN3 nsv7333 2 175062839 175097525 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5836 S 9 0 0 "" NA19129 nsv499764 2 175096707 175101367 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585534 S 9 0 0 "" nsv3041 2 175128987 175149362 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7581 S 9 1 0 WIPF1 NA12156 nsv3042 2 175157573 175189086 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1553 S 9 1 0 WIPF1 NA19240 nsv215436 2 175167569 175167822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234014 M 24 WIPF1 esv27119 2 175215866 175216586 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20538 S 451 0 1 WIPF1 NA19108 nsv470500 2 175283895 175329728 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547267 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHRNA1 HGDP00905 nsv459948 2 175283895 175335294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536591 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHRNA1 HGDP00905 nsv875432 2 175293862 175393675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555032,nssv1585729 M 6533 0 2 CHN1,CHRNA1 IS37639,MS21163 nsv522997 2 175298705 175305078 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698667 S 2026 1 0 "" nsv523079 2 175298705 175305433 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698770 S 2026 0 1 "" nsv523215 2 175303160 175305847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698936 S 2026 0 1 "" esv269368 2 175444156 175444492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514610,essv2519279,essv2517095,essv2514800,essv2515689,essv2517727,essv2516167,essv2516885,essv2517321 M 157 9 0 Samples from several populations that are part of the HapMap project. CHN1 NA11840,NA11894,NA11931,NA12234,NA12815,NA12878,NA12891,NA12892,NA18970 esv272789 2 175444162 175444486 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582132,essv2582498,essv2583174 M 7 3 0 Samples from several populations that are part of the HapMap project. CHN1 NA12878,NA12891,NA12892 nsv875433 2 175488849 175526214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517401 S 6533 0 1 CHN1 SP57270 nsv821797 2 175547407 175548410 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434959 S 31 0 1 CHN1 NA18942 nsv3044 2 175737724 175783037 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7582 S 9 0 1 ATF2,ATP5G3,MIR933 NA12156 esv1955867 2 175810745 175811177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540578 S 1 0 1 "" NA18507 esv1746829 2 175810967 175811020 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836404 S 2 0 1 "" HuRef nsv821799 2 175813222 175814154 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438688,nssv1427369,nssv1440184 M 31 0 3 "" AK8,NA18592,NA18973 esv1997448 2 175898216 175898633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973767 S 1 0 1 "" NA18507 esv1060893 2 175898412 175898553 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806488 S 2 0 1 "" HuRef nsv525290 2 175907005 175916396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701395 S 2026 0 1 "" nsv520223 2 175913492 175916396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678491,nssv661982 M 2026 0 2 "" nsv875434 2 175959552 175997565 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516823 S 6533 1 0 "" SP56950 nsv834463 2 175978401 176145335 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442416 S 95 1 0 "" nsv821800 2 176017010 176022713 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438689 S 31 0 1 "" NA18973 nsv3045 2 176025056 176050132 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9582 S 9 1 0 "" NA18507 nsv3046 2 176030598 176077233 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2304,nssv5837,nssv1554 M 9 0 3 "" NA18555,NA19129,NA19240 nsv508180 2 176046287 176053603 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617464 S 4 0 1 "" CHM esv2516693 2 176054026 176061479 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282917 S 1 0 1 "" NA18507 dgv91e180 2 176054166 176062732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997544,esv1007045 M 3 0 1 "" HuRef esv2585737 2 176054341 176062374 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373525 S 1 0 1 "" NA18507 nsv511826 2 176054694 176061499 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626481 S 1 0 1 "" 1 esv2352196 2 176054708 176061177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716090 S 1 0 1 "" NA18507 esv4658 2 176054889 176061031 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27099 S 1 0 1 Single Asian sample YH "" YH nsv498947 2 176054914 176060982 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585808 S 9 0 1 "" esv5796 2 176054926 176060979 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28237 S 1 0 1 "" SJK nsv436284 2 176054928 176060870 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465959 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1020887 2 176054928 176060981 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322037 S 2 0 1 "" HuRef nsv215398 2 176054929 176060981 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233976 M 24 "" nsv3047 2 176131430 176176146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7583 S 9 0 1 "" NA12156 esv270943 2 176172018 176172118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496309,essv2504708 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA19099 nsv515494 2 176252868 176253825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653307,nssv687087 M 2026 0 2 "" esv271301 2 176301284 176301649 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496191,essv2502218 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA19257 nsv508181 2 176350723 176387761 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617465 S 4 0 1 "" CHM esv2499882 2 176385626 176387430 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375793 S 1 0 1 "" NA18507 esv1007975 2 176386061 176386665 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582705 S 3 0 1 "" HuRef esv1462695 2 176386061 176386668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938274 S 2 0 1 "" HuRef esv23535 2 176386118 176387982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13628 S 451 1 0 "" NA12489 nsv875435 2 176411753 176446786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557066 S 6533 0 1 "" MS22353 esv988242 2 176433123 176433568 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563536 S 3 1 0 "" HuRef esv1510902 2 176433445 176433445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912719 S 2 1 0 "" HuRef esv271185 2 176436509 176436844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571634,essv2546578,essv2521169,essv2543836,essv2570930,essv2568258,essv2531967,essv2577339,essv2521695,essv2547530,essv2529395,essv2558338,essv2564627,essv2565363,essv2555120,essv2530688,essv2537509,essv2528539,essv2546909,essv2520873,essv2557314,essv2557219,essv2552695,essv2569406,essv2550091,essv2537154,essv2569730,essv2561604,essv2544856,essv2562994,essv2523933,essv2541122,essv2543019,essv2540351,essv2534617,essv2561281,essv2539915,essv2519706,essv2559837,essv2521979,essv2566036,essv2531221,essv2532779,essv2567784,essv2541810,essv2569956,essv2553347,essv2535752,essv2572248,essv2541940,essv2569012,essv2556353,essv2527769,essv2562529,essv2539376,essv2533928,essv2573160,essv2573875,essv2527473,essv2556028,essv2573555,essv2576996,essv2525692,essv2529556,essv2575730,essv2575106,essv2526561,essv2524007,essv2560816,essv2530311,essv2560236,essv2549816,essv2546125,essv2574153,essv2551406,essv2536056,essv2538093,essv2548834,essv2524772,essv2563540,essv2558075 M 157 81 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07357,NA10847,NA10851,NA11840,NA11881,NA11894,NA11992,NA11993,NA11995,NA12006,NA12043,NA12144,NA12717,NA12749,NA12750,NA12751,NA12812,NA12872,NA12873,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18508,NA18511,NA18517,NA18520,NA18523,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18605,NA18608,NA18609,NA18856,NA18861,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18951,NA18952,NA18956,NA18964,NA18970,NA18980,NA19093,NA19099,NA19102,NA19114,NA19129,NA19137,NA19141,NA19190,NA19225,NA19239,NA19240,NA19257 esv274080 2 176436513 176436846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581908,essv2582621,essv2582974,essv2584664,essv2583774 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 nsv521343 2 176458024 176601799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697952 S 2026 0 1 KIAA1715 esv1288842 2 176469544 176469544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635879 S 2 1 0 "" HuRef nsv875436 2 176500128 176526193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512934,nssv1500394 M 6533 0 2 KIAA1715 SP50649,SP55655 nsv508120 2 176547262 176553262 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623881 S 4 0 1 KIAA1715 NA18994 nsv520227 2 176608336 176681328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686873,nssv662017,nssv678754,nssv688885 M 2026 0 4 EVX2,HOXD11,HOXD12,HOXD13 dgv676n67 2 176630166 176789197 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821803,nsv821801,nsv821804,nsv821802 M 31 4 0 EVX2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,LOC100506783,LOC401022,MIR10B AK10,AK6,NA18542,NA18968 nsv875437 2 176632127 176707258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546503 S 6533 0 1 EVX2,HOXD10,HOXD11,HOXD12,HOXD13,HOXD8,HOXD9 MS17208 nsv875438 2 176632127 176773069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530460 S 6533 0 1 EVX2,HOXD1,HOXD10,HOXD11,HOXD12,HOXD13,HOXD3,HOXD4,HOXD8,HOXD9,LOC100506783,LOC401022,MIR10B MS10311 nsv527187 2 176645080 176693942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703583 S 2026 0 1 EVX2,HOXD10,HOXD11,HOXD12,HOXD13 nsv517968 2 176645080 176720824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695380 S 2026 0 1 EVX2,HOXD10,HOXD11,HOXD12,HOXD13,HOXD8,HOXD9,LOC100506783 dgv4368n71 2 176647928 176695466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875440,nsv875439 M 6533 0 3 EVX2,HOXD10,HOXD11,HOXD12,HOXD13 SP54042,SP54988,SP55021 nsv524250 2 176659172 176687642 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700142 S 2026 0 1 HOXD11,HOXD12,HOXD13 nsv875441 2 176659733 176683690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510493 S 6533 0 1 HOXD11,HOXD12,HOXD13 SP54967 nsv875442 2 176662357 176693942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509779 S 6533 0 1 HOXD10,HOXD11,HOXD12,HOXD13 SP54956 dgv4369n71 2 176664756 176682350 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875445,nsv875444,nsv875443 M 6533 0 4 HOXD11,HOXD12,HOXD13 SP54043,SP54593,SP54672,SP55019 nsv875446 2 176666947 176736797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508629 S 6533 0 1 HOXD10,HOXD11,HOXD12,HOXD13,HOXD4,HOXD8,HOXD9,LOC100506783,MIR10B SP54725 nsv875447 2 176672550 176683690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508324 S 6533 0 1 HOXD11,HOXD12 SP54591 nsv821805 2 176704785 176705973 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437318 S 31 1 0 HOXD8 NA18949 nsv523803 2 176801222 176878414 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699632 S 2026 1 0 MTX2 nsv507052 2 176817186 176823186 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620738 S 4 1 0 "" NA15510 nsv459952 2 176878164 176964731 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536594 S 1557 0 1 MTX2 1780862574_A nsv3048 2 176952651 177000106 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4481,nssv2305,nssv9356,nssv10256,nssv1555 M 9 0 5 "" NA12878,NA18517,NA18555,NA18956,NA19240 nsv508183 2 176972757 176989528 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620198,nssv617466,nssv618699 M 4 0 3 "" CHM,NA10860,NA15510 nsv511827 2 176973487 176980696 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626482 S 1 0 1 "" 1 dgv92e180 2 176973832 176980131 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994706,esv996480 M 3 0 1 "" HuRef dgv677n67 2 176973832 176980546 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821806,nsv821807 M 31 0 26 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820347 2 176973832 176980546 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420276 S 1 0 1 "" NA10851 nsv819170 2 176973862 176980178 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419766 S 2 0 1 "" AK1 dgv93e180 2 176973881 176980573 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995131,esv989072 M 3 0 1 "" HuRef esv1605940 2 176973891 176980290 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855679 S 2 0 1 "" HuRef esv27397 2 176973956 176980168 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10375 S 451 5 17 "" NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12828,NA18517,NA18523,NA18858,NA18861,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225 nsv514103 2 176974016 176979872 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627230 S 1414 0 1 "" dgv1274e1 2 177023453 177073845 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8531,esv971 M 271 0 0 "" NA18523 nsv821808 2 177081856 177085674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440932,nssv1430445 M 31 0 2 "" AK16,NA18969 nsv515967 2 177083433 177085114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655086,nssv691672,nssv692208,nssv693694,nssv665520,nssv683129,nssv691078,nssv683021,nssv680671,nssv691262 M 2026 0 10 "" nsv834464 2 177083989 177242656 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442417 S 95 1 0 LOC375295,MIR1246 esv2180255 2 177111150 177111516 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957857 S 1 0 1 "" NA18507 esv999588 2 177129299 177136412 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564686 S 3 0 1 "" HuRef nsv527737 2 177246512 177400818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704221 S 2026 0 1 "" nsv524841 2 177336504 177340960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700843 S 2026 0 1 "" nsv3049 2 177342589 177376256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7584 S 9 1 0 "" NA12156 nsv459953 2 177412567 177428921 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536595 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01218 nsv3050 2 177421676 177468779 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2306,nssv7585 M 9 0 2 "" NA12156,NA18555 dgv4370n71 2 177468251 177543256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875448,nsv875449 M 6533 0 2 "" IS37428,IS41964 nsv875450 2 177493401 177527354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554518,nssv1557920 M 6533 0 2 "" MS20850,MS22993 esv26063 2 177507662 177510979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12287 S 451 0 3 "" NA18508,NA19147,NA19190 nsv525342 2 177512948 177513211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701460 S 2026 0 1 "" nsv834465 2 177775540 177823359 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442419 S 95 0 1 HNRNPA3,NFE2L2 nsv819635 2 177856377 177856523 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419436 S 2 0 1 LOC100130691 AK1 nsv3051 2 177901682 177947640 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6887 S 9 0 1 LOC100130691 NA12156 esv2790 2 177924318 177924718 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25231 S 1 0 1 Single Asian sample YH LOC100130691 YH esv1117358 2 177924386 177924513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166230 S 2 0 1 LOC100130691 HuRef nsv213523 2 177924531 177924643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232101 M 24 LOC100130691 esv2433824 2 177994946 177996632 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305651 S 1 0 1 AGPS NA18507 esv2084314 2 177995693 177996495 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656460 S 1 0 1 AGPS NA18507 esv8338 2 177995867 177996314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30779 S 1 0 1 AGPS SJK esv1528872 2 178026976 178026976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253467 S 2 1 0 AGPS HuRef nsv507053 2 178042318 178048318 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617575,nssv621675,nssv620739 M 4 3 0 AGPS CHM,NA10860,NA15510 esv267553 2 178059683 178060020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540867,essv2546436,essv2521140,essv2526284,essv2542509,essv2536520,essv2522861,essv2544021,essv2571000,essv2556660,essv2545443,essv2523166,essv2532033,essv2577483,essv2570750,essv2548532,essv2521742,essv2576716,essv2550752,essv2550413,essv2535316,essv2554312,essv2544295,essv2520705,essv2547129,essv2529339,essv2558556,essv2564688,essv2577912,essv2553773,essv2559504,essv2520268,essv2564187,essv2554917,essv2530571,essv2562096,essv2537511,essv2528378,essv2546806,essv2530461,essv2556831,essv2551891,essv2532106,essv2569578,essv2578704,essv2537046,essv2544621,essv2562970,essv2538367,essv2524451,essv2534559,essv2539776,essv2549565,essv2519555,essv2522121,essv2531023,essv2532679,essv2528950,essv2567603,essv2541472,essv2570057,essv2553229,essv2535538,essv2572280,essv2559114,essv2550962,essv2578321,essv2555612,essv2566539,essv2574004,essv2534466,essv2522424,essv2531550,essv2543039,essv2573324,essv2572064,essv2526874,essv2575387,essv2574694,essv2560197,essv2546006,essv2574514,essv2536164,essv2537902,essv2549075,essv2533067,essv2554481,essv2524966,essv2557954 M 157 89 0 Samples from several populations that are part of the HapMap project. AGPS NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18501,NA18504,NA18505,NA18508,NA18510,NA18517,NA18526,NA18532,NA18547,NA18555,NA18561,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18858,NA18940,NA18945,NA18948,NA18951,NA18959,NA18960,NA18961,NA18965,NA18969,NA18973,NA19005,NA19099,NA19138,NA19190,NA19239,NA19240 esv272459 2 178059683 178060020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581672,essv2582447,essv2583161,essv2584634,essv2583679 M 7 5 0 Samples from several populations that are part of the HapMap project. AGPS NA12878,NA12891,NA12892,NA19239,NA19240 esv1690590 2 178059712 178059712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268332 S 2 1 0 AGPS HuRef nsv819130 2 178201966 178202423 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418962 S 2 1 0 PDE11A AK1 nsv525762 2 178202766 178205612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701930 S 2026 0 1 PDE11A nsv213289 2 178233087 178233143 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231867 M 24 PDE11A esv275124 2 178246830 178249405 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585675 S 1250 0 1 PDE11A esv2465411 2 178251358 178252403 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192859 S 1 1 0 PDE11A NA18507 esv274637 2 178251888 178252068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580213,essv2580368,essv2579913,essv2580722 M 7 4 0 Samples from several populations that are part of the HapMap project. PDE11A NA12878,NA12891,NA12892,NA19238 esv268122 2 178252044 178252376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565830,essv2521831,essv2551990,essv2577856,essv2562739,essv2550060,essv2561556,essv2544958,essv2523606,essv2540657,essv2524465,essv2566161,essv2532651,essv2567860,essv2535508,essv2569064,essv2573047,essv2555352,essv2533476,essv2567237,essv2529862,essv2574015,essv2557601,essv2575608,essv2530243,essv2568525,essv2545092,essv2549965,essv2551574,essv2537739 M 157 30 0 Samples from several populations that are part of the HapMap project. PDE11A NA07000,NA11829,NA12144,NA12489,NA12761,NA18507,NA18511,NA18523,NA18526,NA18537,NA18552,NA18555,NA18572,NA18576,NA18577,NA18608,NA18861,NA18942,NA18943,NA18944,NA18947,NA18949,NA18951,NA18953,NA19099,NA19141,NA19147,NA19172,NA19225,NA19257 esv1970130 2 178255707 178256121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700803 S 1 0 1 PDE11A NA18507 nsv528219 2 178260170 178275397 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704780 S 2026 1 0 PDE11A esv7012 2 178320749 178320849 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29453 S 1 1 0 PDE11A SJK nsv3052 2 178322168 178357585 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4482 S 9 1 0 PDE11A NA12878 esv2606430 2 178356503 178357632 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346127 S 1 1 0 PDE11A NA18507 esv269406 2 178357169 178357498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565816,essv2540743,essv2546238,essv2525845,essv2522869,essv2523434,essv2548208,essv2576752,essv2550626,essv2525315,essv2535051,essv2564352,essv2553803,essv2559507,essv2565338,essv2576155,essv2530581,essv2557149,essv2552427,essv2578712,essv2558946,essv2539036,essv2569734,essv2544744,essv2562880,essv2540605,essv2524351,essv2539865,essv2519652,essv2560100,essv2522155,essv2531134,essv2568042,essv2528759,essv2541596,essv2570152,essv2563769,essv2553216,essv2559097,essv2566876,essv2542176,essv2568884,essv2543582,essv2556281,essv2528041,essv2573227,essv2533780,essv2557707,essv2534347,essv2522513,essv2543240,essv2525677,essv2526939,essv2529661,essv2538495,essv2526627,essv2560799,essv2530422,essv2572829,essv2545071,essv2560512,essv2571431,essv2545793,essv2574233,essv2538160,essv2548797,essv2554375,essv2547887,essv2563226,essv2557891 M 157 70 0 Samples from several populations that are part of the HapMap project. PDE11A NA07000,NA07037,NA07346,NA07347,NA10847,NA10851,NA11829,NA11831,NA11881,NA11918,NA11931,NA12004,NA12045,NA12154,NA12155,NA12156,NA12249,NA12751,NA12763,NA12776,NA12812,NA12814,NA12873,NA18501,NA18502,NA18510,NA18516,NA18519,NA18520,NA18526,NA18532,NA18552,NA18555,NA18563,NA18566,NA18570,NA18571,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18942,NA18944,NA18953,NA18959,NA18960,NA18965,NA18980,NA19005,NA19093,NA19108,NA19114,NA19137,NA19141,NA19143,NA19172,NA19190,NA19238,NA19239,NA19240 esv273152 2 178357177 178357504 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584372,essv2584438,essv2583834 M 7 3 0 Samples from several populations that are part of the HapMap project. PDE11A NA19238,NA19239,NA19240 esv274308 2 178384463 178384742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580097,essv2579267,essv2579786 M 7 3 0 Samples from several populations that are part of the HapMap project. PDE11A NA12878,NA19239,NA19240 esv269818 2 178384472 178384735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521155,essv2526046,essv2536555,essv2522998,essv2545554,essv2523407,essv2570390,essv2550549,essv2525247,essv2547475,essv2577704,essv2553859,essv2559434,essv2576502,essv2564136,essv2562016,essv2537537,essv2547093,essv2520869,essv2557342,essv2557233,essv2552630,essv2551818,essv2532343,essv2578742,essv2550188,essv2537099,essv2569804,essv2527280,essv2561311,essv2538249,essv2524480,essv2539682,essv2519624,essv2559828,essv2522174,essv2531262,essv2567745,essv2528667,essv2541615,essv2570015,essv2563800,essv2553422,essv2535808,essv2566992,essv2542067,essv2550998,essv2569189,essv2543554,essv2556344,essv2527903,essv2562304,essv2533996,essv2572979,essv2533635,essv2567003,essv2522551,essv2543174,essv2527005,essv2529717,essv2575403,essv2575282,essv2538467,essv2560575,essv2524079,essv2574762,essv2568485,essv2560396,essv2548076,essv2549693,essv2571526,essv2545799,essv2574346,essv2551559,essv2548730,essv2554660,essv2547857 M 157 77 0 Samples from several populations that are part of the HapMap project. PDE11A NA07037,NA07346,NA07347,NA11894,NA11918,NA11920,NA11931,NA12003,NA12004,NA12044,NA12155,NA12156,NA12717,NA12761,NA12763,NA12776,NA12814,NA12828,NA12874,NA12878,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18510,NA18511,NA18517,NA18520,NA18522,NA18523,NA18547,NA18555,NA18563,NA18566,NA18570,NA18571,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18944,NA18947,NA18960,NA18965,NA19005,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19138,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv22087 2 178387032 178393084 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19617 S 451 0 1 PDE11A NA19129 nsv3053 2 178398886 178443378 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4656 S 9 0 1 PDE11A NA19129 esv21845 2 178449241 178450364 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9888 S 451 0 2 PDE11A NA18916,NA19129 nsv875451 2 178456540 178661655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571760 S 6533 0 1 PDE11A IS32806 nsv3055 2 178508684 178527884 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7586 S 9 0 1 PDE11A NA12156 esv1296090 2 178519246 178519346 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016525 S 2 0 1 PDE11A HuRef esv1224166 2 178519624 178520132 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185584 S 2 0 1 PDE11A HuRef nsv215311 2 178530892 178540173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233889 M 24 PDE11A esv24708 2 178546030 178556101 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17316,esv18858 M 451 0 3 PDE11A NA06985,NA11894,NA12287 nsv511190 2 178546437 178551452 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626443 S 1 0 1 PDE11A 1 dgv94e180 2 178552060 178556191 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1002532,esv997411 M 3 0 1 PDE11A HuRef nsv521228 2 178553715 178565146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686420,nssv689856 M 2026 0 2 PDE11A dgv678n67 2 178564414 178565438 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821813,nsv821812,nsv821811 M 31 0 4 PDE11A AK2,NA18542,NA18968,NA18969 esv27415 2 178564675 178565468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11734 S 451 0 1 PDE11A NA12489 nsv213683 2 178617324 178617324 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232261 M 24 PDE11A esv1338881 2 178617402 178617402 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757360 S 2 1 0 PDE11A HuRef esv268702 2 178666292 178667576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512611,essv2496802,essv2509893,essv2495710 M 157 4 0 Samples from several populations that are part of the HapMap project. PDE11A NA18489,NA18498,NA18508,NA18916 nsv518790 2 178671691 178708537 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696243 S 2026 1 0 PDE11A,RBM45 nsv875452 2 178671691 178876012 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578485 S 6533 1 0 OSBPL6,PDE11A,RBM45 IS34789 dgv4371n71 2 178730997 178774689 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875454,nsv875453 M 6533 0 2 OSBPL6 IS33864,IS39473 nsv511090 2 178733715 178785242 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621663 S 4 0 0 OSBPL6 NA15510 esv271848 2 178745289 178745374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516530 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv21696 2 178766775 178768187 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17391 S 451 0 1 OSBPL6 NA12156 nsv3056 2 178782636 178816805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1556 S 9 1 0 OSBPL6 NA19240 nsv3057 2 178823982 178856728 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6888 S 9 1 0 OSBPL6 NA12156 nsv834466 2 178849038 178993024 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442420 S 95 1 0 MIR548N,OSBPL6 esv268453 2 178880526 178881855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513485,essv2501330,essv2498754,essv2501782 M 157 4 0 Samples from several populations that are part of the HapMap project. OSBPL6 NA18907,NA19093,NA19138,NA19239 esv274681 2 178880543 178881842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580902,essv2579715 M 7 2 0 Samples from several populations that are part of the HapMap project. OSBPL6 NA19238,NA19240 nsv834467 2 178966386 179139211 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442421 S 95 0 1 DFNB59,FKBP7,LOC100506866,MIR548N,OSBPL6,PLEKHA3,PRKRA,TTN nsv820287 2 179004297 179005260 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419135 S 2 0 1 MIR548N,PRKRA AK1 nsv821814 2 179004316 179005208 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425605 S 31 0 1 MIR548N,PRKRA AK4 nsv821160 2 179004316 179005350 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420277 S 1 1 0 MIR548N,PRKRA NA10851 dgv679n67 2 179004326 179005350 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821825,nsv821822,nsv821828,nsv821820,nsv821824,nsv821818,nsv821819,nsv821817,nsv821816,nsv821815,nsv821829,nsv821823,nsv821826 M 31 19 0 MIR548N,PRKRA AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18942,NA18949,NA18951,NA18972,NA18997,NA18999 nsv821827 2 179004386 179004975 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424064 S 31 1 0 MIR548N,PRKRA NA18582 esv24835 2 179004449 179005231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11043 S 451 0 20 MIR548N,PRKRA NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA15510,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19129,NA19190,NA19225,NA19240,NA19257 esv8989 2 179005274 179009117 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31430 S 1 0 1 MIR548N,PRKRA SJK esv7371 2 179009233 179016236 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29812 S 1 0 1 MIR548N,PRKRA SJK nsv819460 2 179016168 179016393 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419292 S 2 0 1 MIR548N,PRKRA AK1 esv9296 2 179016334 179023246 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31737 S 1 0 1 MIR548N,PRKRA SJK nsv819025 2 179023187 179023364 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419004 S 2 0 1 MIR548N,PRKRA AK1 esv8450 2 179023365 179023946 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30891 S 1 0 1 MIR548N,PRKRA SJK nsv834468 2 179059362 179241870 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442422 S 95 1 0 LOC100506866,MIR548N,PLEKHA3,TTN esv1002693 2 179065291 179073389 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564740 S 3 0 1 MIR548N,PLEKHA3 HuRef nsv522036 2 179104006 179106755 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694806 S 2026 1 0 LOC100506866,MIR548N,TTN dgv1275e1 2 179117318 179316487 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4437,esv291 M 271 0 0 LOC100506866,MIR548N,TTN NA18552 nsv3058 2 179161340 179192098 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2308 S 9 1 0 LOC100506866,MIR548N,TTN NA18555 nsv10202 2 179224595 179237223 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28514,nssv11653,nssv11684 M 31 0 3 Samples from several populations that are part of the HapMap project. MIR548N,TTN NA18504,NA18517,NA18537 esv26878 2 179226254 179236645 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16126 S 451 0 3 MIR548N,TTN NA12004,NA12044,NA18517 nsv821308 2 179226254 179236645 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420278 S 1 1 0 MIR548N,TTN NA10851 esv272047 2 179260345 179260681 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502555,essv2510742,essv2496570,essv2494663,essv2494866,essv2505819,essv2499024 M 157 7 0 Samples from several populations that are part of the HapMap project. TTN NA12750,NA18501,NA18510,NA18519,NA18520,NA18861,NA19114 nsv834470 2 179263397 179436971 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442425,nssv1442424,nssv1442423,nssv1442428,nssv1442427,nssv1442426,nssv1442430 M 95 7 0 CCDC141,TTN esv1134788 2 179330200 179330200 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754949 S 2 1 0 TTN HuRef nsv521818 2 179419218 179421846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694100 S 2026 0 1 CCDC141 nsv3059 2 179437747 179469631 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1557 S 9 1 0 CCDC141 NA19240 nsv875455 2 179441090 179617712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581701 S 6533 0 1 CCDC141 IS35701 nsv875456 2 179484138 179605032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579096 S 6533 0 1 CCDC141 IS35018 dgv4372n71 2 179484138 179675049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875458,nsv875457 M 6533 0 2 CCDC141,SESTD1 IS30311,IS33533 dgv4373n71 2 179548078 179617712 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875466,nsv875460,nsv875461,nsv875463,nsv875459,nsv875462 M 6533 0 96 CCDC141 IS30067,IS30177,IS30206,IS30319,IS30372,IS30409,IS30411,IS30479,IS30507,IS30562,IS30589,IS30597,IS30925,IS30976,IS31066,IS31094,IS31286,IS31335,IS31396,IS31401,IS31441,IS31758,IS32666,IS32719,IS32841,IS32864,IS32992,IS33261,IS33330,IS33403,IS33475,IS33519,IS33676,IS33865,IS34184,IS34356,IS34400,IS34687,IS35099,IS35186,IS35581,IS35770,IS35982,IS36173,IS36195,IS36196,IS36287,IS36458,IS36990,IS37329,IS37404,IS37443,IS37645,IS38037,IS38113,IS38179,IS38180,IS38210,IS38254,IS38335,IS38362,IS38620,IS38633,IS38648,IS38663,IS39369,IS39426,IS39522,IS39680,IS40003,IS40186,IS40248,IS40345,IS40524,IS40581,IS40801,IS40809,IS40955,IS41314,IS41581,IS41808,IS41847,IS41866,IS41908,IS41940,IS41968,IS41983,MS10443,MS12092,MS15737,MS17158,MS18922,MS20346,MS24444,MS25303,SP52292 dgv4374n71 2 179551857 179675049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875464,nsv875465 M 6533 0 2 CCDC141,SESTD1 IS38516,IS41807 esv270025 2 179591655 179592674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507480 S 157 1 0 Samples from several populations that are part of the HapMap project. CCDC141 NA18638 nsv508184 2 179604629 179673664 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618700 S 4 0 1 CCDC141 NA10860 nsv508121 2 179642964 179648964 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618558,nssv621536,nssv623882 M 4 0 3 "" CHM,NA15510,NA18994 esv2513814 2 179675410 179676710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241163 S 1 0 1 SESTD1 NA18507 nsv834471 2 179682548 179831272 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442431 S 95 1 0 SESTD1 nsv3060 2 179699036 179743756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7587 S 9 0 1 SESTD1 NA12156 nsv511167 2 179764586 179784978 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626188 S 1 0 1 SESTD1 1 nsv3061 2 179765439 179803963 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9583,nssv1558,nssv5838,nssv6889,nssv9357,nssv4483 M 9 0 6 SESTD1 NA12156,NA12878,NA18507,NA18517,NA19129,NA19240 nsv820056 2 179767206 179779006 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418619 S 2 1 0 SESTD1 AK1 esv25523 2 179768355 179791457 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21265,esv20459,esv14990 M 451 16 5 SESTD1 NA07037,NA07045,NA11931,NA12006,NA12044,NA12239,NA12489,NA12749,NA12776,NA15510,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19257 nsv821830 2 179768355 179791457 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424607,nssv1426508,nssv1438042,nssv1425015,nssv1434286,nssv1432698,nssv1425609 M 31 0 7 SESTD1 AK4,AK6,NA18570,NA18947,NA18951,NA18968,NA18972 esv2427556 2 179768565 179791583 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330246 S 1 0 1 SESTD1 NA18507 esv989936 2 179769436 179789867 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565250 S 3 0 1 SESTD1 HuRef nsv820485 2 179769987 179791234 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420279 S 1 0 1 SESTD1 NA10851 nsv511828 2 179773036 179790327 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626483 S 1 0 1 SESTD1 1 nsv436303 2 179773582 179791609 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465960 S 2 0 1 Samples from several populations that are part of the HapMap project. SESTD1 NA18505 nsv498948 2 179773695 179789934 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585809 S 9 0 1 SESTD1 esv2422030 2 179775437 179787389 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5099524,essv5112411,essv5059678,essv5123782,essv5097292,essv5006673,essv5076076,essv5027201,essv5149930,essv5143371,essv5123800,essv5054599,essv5126317,essv5108065,essv5073728,essv5132638,essv5074699,essv5036146,essv5121558,essv5086395,essv5011264,essv5149883,essv5036603,essv5110631,essv5022652,essv5130306,essv5037277,essv5151208,essv5011947,essv5033157,essv5090304,essv5102780,essv5049723,essv5151494,essv5084048,essv5057201,essv5158743,essv5130816,essv5123429,essv5153523,essv5093328,essv5022936,essv5054876,essv5005946,essv5063199,essv5142940,essv5116574,essv5118210,essv5026724,essv5100094,essv5103361,essv5115867,essv5150181,essv5112153,essv5032585,essv5150296,essv5029992,essv5077243,essv5036318,essv5024474,essv5072899,essv5155018,essv5095677,essv5125190,essv5016333,essv5063719,essv5030008,essv5148791,essv5070390,essv5021031,essv5140350,essv5025972,essv5113082,essv5121483,essv5009293,essv5066268,essv5049548,essv5070554,essv5131374,essv5076445,essv5075027,essv5120643,essv5094453,essv5115128,essv5034880,essv5052580,essv5145726,essv5009300,essv5140688,essv5075613,essv5118870,essv5159956,essv5115864,essv5082788,essv5077546,essv5077204,essv5021744,essv5150242,essv5071275,essv5064192,essv5022303,essv5032458,essv5105441,essv5072925,essv5010878,essv5057303,essv5148529,essv5049662,essv5111057,essv5033633,essv5103136,essv5087343,essv5147497,essv5023819,essv5088116,essv5125661,essv5026182,essv5154836,essv5043882,essv5044564,essv5154449,essv5097968,essv5007578,essv5049172,essv5106990,essv5043329,essv5145572,essv5118440,essv5031348,essv5114332,essv5101599,essv5101991,essv5044637,essv5025006,essv5055755,essv5046509,essv5093301,essv5097817,essv5134118,essv5135113,essv5129829,essv5115084,essv5038525,essv5129390,essv5098044,essv5091051,essv5135889,essv5020496,essv5017158,essv5151964,essv5090869,essv5018640,essv5025179,essv5132837,essv5122070,essv5148314,essv5076564,essv5077164,essv5090650,essv5037612,essv5135789,essv5118125,essv5103251,essv5090598,essv5148385,essv5107966,essv5114479,essv5102116,essv5048007,essv5068744,essv5154606,essv5130844,essv5065827,essv5044635,essv5137557,essv5083792,essv5107971,essv5011618,essv5114976,essv5034786,essv5014458,essv5021576,essv5011665,essv5010928,essv5080876,essv5146045,essv5055080,essv5014870,essv5102482,essv5048971,essv5067800,essv5046114,essv5115535,essv5052836,essv5053076,essv5098976,essv5038228,essv5080468,essv5018652,essv5117684,essv5149545,essv5012588,essv5140050,essv5071400,essv5057031,essv5049275,essv5092160,essv5068824,essv5026779,essv5045740,essv5015179,essv5057541,essv5012797,essv5030715,essv5138941,essv5135653,essv5098209,essv5027633,essv5111262,essv5110491,essv5097274,essv5055253,essv5088431,essv5079252,essv5042827,essv5085682,essv5160316,essv5067910,essv5022176,essv5045617,essv5089627,essv5008003,essv5054309,essv5023943,essv5114088,essv5058673,essv5008014,essv5090166,essv5066919,essv5042891,essv5097742,essv5141209,essv5043777,essv5159314,essv5016227,essv5141132,essv5039793,essv5127108,essv5023437,essv5111799,essv5084289,essv5013182,essv5145376,essv5042459,essv5096419,essv5142865,essv5058423,essv5067404,essv5074877,essv5107391,essv5100072,essv5010960,essv5082209,essv5045402,essv5078918,essv5106272,essv5009086,essv5032700,essv5024615,essv5098503,essv5129103,essv5161197,essv5111715,essv5042596,essv5099414,essv5050950,essv5125739,essv5048985,essv5085477,essv5071652,essv5138253,essv5019906,essv5035291,essv5041109,essv5160952,essv5133126,essv5017979,essv5153960,essv5061799,essv5089524,essv5119151,essv5091355,essv5050531,essv5034619,essv5055245,essv5114537,essv5110109,essv5012052,essv5124076,essv5071429,essv5083240,essv5040883,essv5036194,essv5044462,essv5119026,essv5033361,essv5046743,essv5153358,essv5079305,essv5123725,essv5136229,essv5022208,essv5017335,essv5152834,essv5137974,essv5123421,essv5072892,essv5031970,essv5074716,essv5040292,essv5009688,essv5155829,essv5016672,essv5040249,essv5135390,essv5145430,essv5123083,essv5016341,essv5115192,essv5143284,essv5060051,essv5128485,essv5073195,essv5027786,essv5134599,essv5063668,essv5086636,essv5080897,essv5082331,essv5116783,essv5120953,essv5036631,essv5012734,essv5063187,essv5121037,essv5114095,essv5050105,essv5132851,essv5087780,essv5113117,essv5086747,essv5045548,essv5130917,essv5082663,essv5069046,essv5101466,essv5010420,essv5084079,essv5015181,essv5050301,essv5093186,essv5154610,essv5132995,essv5031388,essv5085014,essv5068794,essv5028020,essv5016630,essv5048932,essv5051642,essv5112336,essv5076513,essv5051337,essv5071238,essv5011503,essv5019677,essv5019572,essv5133928,essv5120811,essv5002172,essv5094856,essv5144304,essv5117818,essv5158407,essv5093965,essv5112526,essv5080761,essv5002088,essv5035088,essv5012530,essv5080379,essv5114214,essv5036041,essv5080747,essv5068185,essv5110088,essv5044632,essv5118678,essv5025251,essv5010713,essv5045123,essv5060220,essv5065021,essv5125773,essv5119525,essv5006163,essv5049341,essv5146075,essv5064642,essv5134664,essv5086767,essv5113343,essv5118420,essv5037836,essv5017067,essv5074585,essv5038571,essv5031812,essv5006102,essv5157617,essv5042076,essv5014848,essv5155241,essv5141837,essv5022684,essv5054133,essv5137911,essv5007577,essv5020253,essv5021229,essv5030249,essv5113364,essv5037055,essv5070413,essv5055928,essv5052232,essv5009308,essv5085787,essv5111616,essv5027852,essv5075513,essv5147646,essv5082550,essv5032859,essv5127322,essv5115949,essv5011564,essv5157405,essv5006273,essv5076341,essv5157591,essv5118903,essv5095227,essv5045356,essv5022919,essv5004770,essv5073554,essv5010043,essv5122897,essv5132409,essv5117791,essv5062394,essv5010163,essv5012297,essv5133235,essv5148227,essv5036336,essv5124104,essv5149557,essv5140022,essv5072554,essv5108637,essv5070012,essv5122728,essv5053557,essv5056407,essv5143940,essv5079811,essv5123347,essv5121723,essv5153291,essv5131092,essv5053834,essv5080442,essv5006924,essv5081222,essv5149929,essv5044016,essv5053190,essv5084446,essv5004199,essv5113827,essv5088240,essv5097866,essv5124546,essv5116882,essv5137399,essv5008603,essv5141005,essv5047748,essv5050626,essv5160788,essv5141956,essv5020046,essv5138802,essv5095659,essv5095804,essv5140712,essv5141133,essv5111793,essv5060402,essv5101431,essv5133825,essv5135034,essv5059201,essv5113987,essv5113770,essv5150808,essv5007516,essv5047769,essv5099864,essv5015390,essv5051803,essv5061057,essv5051412,essv5064743,essv5048462,essv5148547,essv5039106,essv5048221,essv5108805,essv5138008,essv5082496,essv5102099,essv5113565,essv5106763,essv5015027,essv5037264,essv5120013,essv5093388,essv5131927,essv5106628,essv5009052,essv5137051,essv5157064,essv5028136,essv5119778,essv5060373,essv5079026,essv5102762,essv5091740,essv5011521,essv5026377,essv5038329,essv5097966,essv5026402,essv5027179,essv5118247,essv5002514,essv5148054,essv5059659,essv5103074,essv5033217,essv5044487,essv5140099,essv5151170,essv5077393,essv5009689,essv5081831,essv5020805,essv5009426,essv5073713,essv5108606,essv5080367,essv5047728,essv5119462,essv5069687,essv5013782,essv5004013,essv5110087,essv5066864,essv5125403,essv5061718,essv5033418,essv5019701,essv5012232,essv5058265,essv5045855,essv5124916,essv5014275,essv5110262,essv5018207,essv5153400,essv5062889,essv5089879,essv5120081,essv5006363,essv5098667,essv5089583,essv5118857,essv5105751,essv5141787,essv5016384,essv5062936,essv5155315,essv5146832,essv5126923,essv5078699,essv5014532,essv5141569,essv5020034,essv5091689,essv5014207,essv5084767 M 1184 0 614 SESTD1 NA06985,NA06991,NA06994,NA07014,NA07051,NA07056,NA07345,NA07348,NA07435,NA10831,NA10838,NA10840,NA10843,NA10845,NA10846,NA10853,NA10855,NA10856,NA10859,NA10864,NA11829,NA11831,NA11832,NA11843,NA11891,NA11894,NA11917,NA11920,NA11930,NA11931,NA11993,NA11995,NA12056,NA12057,NA12144,NA12145,NA12156,NA12283,NA12287,NA12375,NA12707,NA12708,NA12762,NA12763,NA12775,NA12801,NA12813,NA12815,NA12817,NA12827,NA12828,NA12832,NA12843,NA12875,NA12877,NA12878,NA12889,NA12891,NA17966,NA17967,NA17970,NA17972,NA17977,NA17981,NA17982,NA17986,NA17993,NA17999,NA18105,NA18140,NA18149,NA18159,NA18484,NA18485,NA18487,NA18489,NA18497,NA18498,NA18499,NA18500,NA18503,NA18504,NA18505,NA18506,NA18507,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18520,NA18546,NA18570,NA18594,NA18599,NA18602,NA18610,NA18611,NA18615,NA18616,NA18621,NA18634,NA18637,NA18639,NA18702,NA18748,NA18757,NA18852,NA18853,NA18854,NA18855,NA18859,NA18861,NA18863,NA18868,NA18870,NA18871,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18914,NA18917,NA18924,NA18930,NA18933,NA18935,NA18943,NA18944,NA18945,NA18947,NA18951,NA18960,NA18962,NA18965,NA18968,NA18978,NA18979,NA18993,NA18995,NA19009,NA19010,NA19027,NA19028,NA19035,NA19038,NA19044,NA19055,NA19059,NA19063,NA19064,NA19066,NA19070,NA19072,NA19074,NA19081,NA19084,NA19094,NA19096,NA19097,NA19099,NA19101,NA19102,NA19107,NA19108,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19139,NA19141,NA19143,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19173,NA19174,NA19175,NA19176,NA19179,NA19181,NA19182,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19192,NA19194,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19207,NA19208,NA19215,NA19221,NA19222,NA19223,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19258,NA19309,NA19310,NA19311,NA19314,NA19316,NA19319,NA19327,NA19328,NA19332,NA19346,NA19350,NA19359,NA19360,NA19371,NA19373,NA19376,NA19377,NA19379,NA19380,NA19381,NA19383,NA19384,NA19394,NA19396,NA19397,NA19399,NA19404,NA19428,NA19429,NA19430,NA19431,NA19435,NA19438,NA19439,NA19440,NA19443,NA19444,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19462,NA19463,NA19466,NA19470,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19653,NA19656,NA19658,NA19659,NA19661,NA19675,NA19676,NA19677,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19700,NA19703,NA19705,NA19711,NA19712,NA19713,NA19716,NA19718,NA19723,NA19724,NA19750,NA19751,NA19761,NA19762,NA19770,NA19772,NA19774,NA19775,NA19776,NA19778,NA19779,NA19781,NA19788,NA19789,NA19790,NA19794,NA19795,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19904,NA19908,NA19909,NA19915,NA19917,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20128,NA20129,NA20276,NA20277,NA20287,NA20290,NA20291,NA20295,NA20297,NA20300,NA20322,NA20332,NA20333,NA20334,NA20340,NA20342,NA20344,NA20346,NA20347,NA20348,NA20349,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20509,NA20510,NA20512,NA20515,NA20516,NA20518,NA20521,NA20522,NA20524,NA20525,NA20528,NA20529,NA20530,NA20534,NA20535,NA20538,NA20541,NA20543,NA20544,NA20588,NA20752,NA20754,NA20755,NA20758,NA20759,NA20761,NA20766,NA20769,NA20773,NA20785,NA20786,NA20790,NA20792,NA20795,NA20797,NA20799,NA20802,NA20807,NA20808,NA20811,NA20815,NA20816,NA20818,NA20826,NA20828,NA20846,NA20847,NA20849,NA20850,NA20852,NA20853,NA20856,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20879,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20892,NA20894,NA20896,NA20897,NA20898,NA20899,NA20901,NA20904,NA20906,NA20908,NA20909,NA20910,NA21086,NA21090,NA21092,NA21097,NA21098,NA21099,NA21101,NA21102,NA21103,NA21104,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21115,NA21118,NA21119,NA21123,NA21141,NA21142,NA21143,NA21297,NA21300,NA21301,NA21302,NA21307,NA21308,NA21313,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21344,NA21352,NA21356,NA21359,NA21361,NA21362,NA21364,NA21365,NA21366,NA21367,NA21368,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21417,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21453,NA21455,NA21457,NA21475,NA21477,NA21478,NA21479,NA21480,NA21485,NA21488,NA21489,NA21490,NA21494,NA21510,NA21512,NA21513,NA21514,NA21517,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21576,NA21577,NA21578,NA21583,NA21587,NA21596,NA21597,NA21600,NA21601,NA21611,NA21613,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21693,NA21716,NA21717,NA21718,NA21722,NA21733,NA21738,NA21740,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442840 2 179775437 179787389 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SESTD1 dgv680n67 2 179777650 179778976 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821831,nsv821833 M 31 17 0 SESTD1 AK14,AK16,AK18,AK2,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18949,NA18973,NA18999 esv1009677 2 179777650 179779233 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587247 S 3 0 1 SESTD1 HuRef nsv514104 2 179777968 179778976 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627242 S 1414 0 1 SESTD1 nsv508185 2 179779005 179793893 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617467 S 4 0 1 SESTD1 CHM nsv834472 2 179799915 179928693 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442432 S 95 0 1 SESTD1 nsv875467 2 179855461 179909700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600907 S 6533 1 0 "" IS41940 nsv519122 2 179919297 179923555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694308 S 2026 0 1 "" esv26347 2 179935186 179935769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12066 S 451 0 1 "" NA18861 esv268939 2 180050732 180051063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493305,essv2509871,essv2496577,essv2500955,essv2505972,essv2501463 M 157 6 0 Samples from several populations that are part of the HapMap project. ZNF385B NA18504,NA18508,NA18510,NA18856,NA18861,NA19093 dgv4375n71 2 180060579 180105114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875468,nsv875469 M 6533 0 2 ZNF385B MS10203,MS24586 esv1076096 2 180066721 180066721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720091 S 2 1 0 ZNF385B HuRef nsv520603 2 180078538 180078742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690044,nssv678621,nssv673028 M 2026 0 3 ZNF385B nsv875470 2 180108266 180140774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554436,nssv1553653 M 6533 0 2 ZNF385B MS20237,MS20813 nsv523865 2 180111373 180135009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699702 S 2026 0 1 ZNF385B nsv436669 2 180116868 180124294 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465961 S 2 0 0 Samples from several populations that are part of the HapMap project. ZNF385B NA18505 nsv437591 2 180117256 180131428 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467472 S 60 0 1 Samples from several populations that are part of the HapMap project. ZNF385B NA10831 nsv10203 2 180118426 180132074 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28250,nssv27397,nssv28831,nssv11607 M 31 0 4 Samples from several populations that are part of the HapMap project. ZNF385B NA10839,NA12802,NA18853,NA19132 esv28142 2 180119664 180130418 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11061,esv21071,esv11473 M 451 2 6 ZNF385B NA11993,NA12006,NA12156,NA19099,NA19108,NA19190 esv2421887 2 180121607 180130382 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5063565,essv5058461,essv5119146,essv5137631,essv5077687,essv5065261,essv5024088,essv5115170,essv5154129,essv5033352,essv5115391,essv5149857,essv5048145,essv5030919,essv5150530,essv5003094,essv5140189,essv5118016,essv5132166,essv5123946,essv5004343,essv5094396,essv5031569,essv5058024,essv5152565,essv5071538,essv5061031,essv5049193,essv5098590,essv5118569,essv5005198,essv5110194,essv5024432,essv5009616,essv5062539,essv5149097,essv5070192,essv5143317,essv5077744,essv5101832,essv5070493,essv5159825,essv5105163,essv5088004,essv5006205,essv5127526,essv5096350,essv5151452,essv5054164,essv5158454,essv5102289,essv5018899,essv5038461,essv5080513,essv5011971,essv5117590,essv5110367,essv5073090,essv5154939,essv5083985,essv5032357,essv5109346,essv5067858,essv5111908,essv5041748,essv5031394,essv5087865,essv5091426,essv5063193,essv5025419,essv5030702,essv5008994,essv5031955,essv5060629,essv5110407,essv5028562,essv5077802,essv5118224,essv5037726,essv5035983,essv5145067,essv5073138,essv5025656,essv5104091,essv5029840,essv5109397,essv5134743,essv5056029,essv5089289,essv5155522,essv5155186,essv5068720,essv5133549,essv5012243,essv5146888,essv5148978,essv5043294,essv5063160,essv5118856,essv5148046,essv5139139,essv5107593,essv5090939,essv5114996,essv5015795,essv5006829,essv5122759,essv5029489,essv5093825,essv5046121,essv5111431,essv5061739,essv5016373,essv5102000,essv5071264,essv5154920,essv5145853,essv5011433,essv5109437,essv5047729,essv5011500,essv5036268,essv5096653,essv5001963,essv5093800,essv5116928,essv5083995,essv5079418,essv5145687,essv5053310,essv5115553,essv5003387,essv5057535,essv5145523,essv5028632,essv5011488,essv5092449,essv5061477,essv5099026,essv5121341,essv5002594,essv5153678,essv5159962,essv5048993,essv5035943,essv5120317,essv5153004,essv5105549,essv5117172,essv5042252,essv5034892,essv5153760,essv5156870,essv5100450,essv5063493,essv5007123,essv5131240,essv5127600,essv5063562,essv5131879,essv5010070,essv5154825,essv5129698,essv5095341,essv5044089,essv5005373,essv5147746,essv5126568,essv5073238,essv5081989,essv5145919,essv5155919 M 1184 0 172 ZNF385B NA07000,NA07031,NA07056,NA10831,NA10836,NA10839,NA10852,NA11882,NA11993,NA12006,NA12056,NA12156,NA12340,NA12344,NA12347,NA12751,NA12767,NA12777,NA12802,NA12815,NA18484,NA18487,NA18488,NA18497,NA18499,NA18501,NA18505,NA18509,NA18853,NA18854,NA18855,NA18857,NA18913,NA18914,NA18917,NA19028,NA19035,NA19041,NA19099,NA19107,NA19108,NA19109,NA19116,NA19119,NA19120,NA19131,NA19132,NA19137,NA19139,NA19141,NA19142,NA19152,NA19159,NA19171,NA19175,NA19176,NA19178,NA19179,NA19180,NA19190,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19213,NA19215,NA19238,NA19239,NA19248,NA19309,NA19310,NA19316,NA19318,NA19319,NA19321,NA19327,NA19352,NA19374,NA19380,NA19383,NA19393,NA19396,NA19397,NA19399,NA19428,NA19430,NA19434,NA19435,NA19437,NA19438,NA19439,NA19440,NA19443,NA19445,NA19446,NA19448,NA19452,NA19468,NA19470,NA19473,NA19682,NA19703,NA19705,NA19708,NA19711,NA19712,NA19713,NA19760,NA19771,NA19783,NA19784,NA19904,NA19908,NA19919,NA19985,NA20276,NA20279,NA20282,NA20291,NA20292,NA20301,NA20322,NA20332,NA20334,NA20335,NA20336,NA20337,NA20504,NA20520,NA20522,NA20581,NA20768,NA20786,NA20871,NA20883,NA20884,NA20894,NA21086,NA21089,NA21098,NA21106,NA21108,NA21123,NA21301,NA21355,NA21371,NA21388,NA21390,NA21403,NA21424,NA21425,NA21475,NA21477,NA21489,NA21517,NA21527,NA21575,NA21576,NA21580,NA21583,NA21596,NA21631,NA21634,NA21636,NA21647,NA21648,NA21719,NA21723,NA21733,NA21740 nsv508186 2 180122015 180130984 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618701 S 4 0 1 ZNF385B NA10860 nsv442841 2 180126456 180130382 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZNF385B nsv514105 2 180127168 180130000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627253 S 1414 0 1 ZNF385B esv1976490 2 180130367 180130761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921336 S 1 0 1 ZNF385B NA18507 esv1542709 2 180130487 180130573 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908838 S 2 0 1 ZNF385B HuRef nsv213487 2 180130587 180130670 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232065 M 24 ZNF385B nsv521639 2 180147786 180151689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698257 S 2026 0 1 ZNF385B nsv875471 2 180156768 180178023 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519767 S 6533 1 0 ZNF385B SP50544 nsv3062 2 180402812 180435721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3039 S 9 1 0 MIR1258,ZNF385B NA18555 dgv4376n71 2 180404659 180763842 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875472,nsv875473 M 6533 3 0 CWC22,MIR1258,ZNF385B MS14801,MS22453,MS25294 nsv521134 2 180454286 180556733 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682806,nssv682679 M 2026 2 0 CWC22 esv270712 2 180476266 180476921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513999 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv834473 2 180572501 180739185 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442433 S 95 1 0 CWC22 esv268880 2 180597460 180597703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512513,essv2496761,essv2506015,essv2493510,essv2510439 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18523,NA19137,NA19172 nsv875474 2 180635388 180683127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507699 S 6533 0 1 "" SP54552 esv1003379 2 180707342 180708980 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564837 S 3 1 0 "" HuRef esv1591380 2 180708800 180708800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323075 S 2 1 0 "" HuRef nsv875475 2 180737081 181017184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591440 S 6533 0 1 "" IS38840 nsv821834 2 180963305 180969871 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425610 S 31 1 0 "" AK4 nsv834474 2 180979378 181128640 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442434 S 95 1 0 "" esv272339 2 181080282 181080467 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582388,essv2583992,essv2583480 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19240 esv269555 2 181080286 181080465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565764,essv2546308,essv2521101,essv2536674,essv2522758,essv2544067,essv2556760,essv2521465,essv2576882,essv2520368,essv2558604,essv2564561,essv2565319,essv2555026,essv2562011,essv2528359,essv2520976,essv2532444,essv2562556,essv2550245,essv2561685,essv2563057,essv2553004,essv2521972,essv2532768,essv2528832,essv2567543,essv2572192,essv2558971,essv2568888,essv2539274,essv2578485,essv2573031,essv2533537,essv2555744,essv2573983,essv2527581,essv2573329,essv2576930,essv2525781,essv2526903,essv2529797,essv2560733,essv2524176,essv2571161,essv2574294,essv2533425,essv2554380,essv2547978,essv2558200 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA10851,NA11829,NA11881,NA11894,NA11920,NA11931,NA11992,NA11994,NA12144,NA12154,NA12716,NA12750,NA12751,NA12812,NA12872,NA12874,NA12891,NA18498,NA18505,NA18507,NA18511,NA18523,NA18532,NA18542,NA18571,NA18576,NA18579,NA18582,NA18609,NA18638,NA18861,NA18912,NA18940,NA18942,NA18944,NA18945,NA18951,NA18952,NA18969,NA18970,NA18980,NA19005,NA19093,NA19116,NA19129,NA19238,NA19240 esv1172841 2 181130171 181130171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862326 S 2 1 0 "" HuRef nsv834475 2 181245708 181433136 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442435 S 95 1 0 "" nsv213233 2 181255171 181255171 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231811 M 24 "" esv1507588 2 181255247 181255247 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146042 S 2 1 0 "" HuRef esv1505605 2 181274196 181274248 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141793 S 2 0 1 "" HuRef esv1567921 2 181274799 181274860 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854731 S 2 0 1 "" HuRef nsv821835 2 181403369 181413011 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439559 S 31 1 0 "" NA18537 esv1564115 2 181446506 181446506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775459 S 2 1 0 "" HuRef esv1004332 2 181470332 181476213 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564647 S 3 0 1 "" HuRef nsv875476 2 181476002 181563242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550784 S 6533 0 1 UBE2E3 MS18620 esv275458 2 181524291 181527622 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585285,essv2585621 M 1250 1 1 "" esv270802 2 181588947 181589292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516696,essv2519171,essv2517062,essv2516514,essv2515880 M 157 5 0 Samples from several populations that are part of the HapMap project. UBE2E3 NA11881,NA11894,NA11931,NA12814,NA12873 dgv17e194 2 181633895 181634593 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1988693,esv2380856 M 1 0 1 UBE2E3 NA18507 esv3605 2 181634026 181634447 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26046 S 1 0 1 Single Asian sample YH UBE2E3 YH esv9135 2 181634073 181634394 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31576 S 1 0 1 UBE2E3 SJK nsv459954 2 181683497 181748538 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536596 S 1557 1 0 "" 1780854238_A esv1700382 2 181696442 181696442 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081915 S 2 1 0 "" HuRef esv1010652 2 181770387 181773355 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564570 S 3 0 1 "" HuRef nsv507054 2 181851186 181857186 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622830 S 4 1 0 "" NA18994 esv271497 2 181858064 181858149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514046 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv1039503 2 181861847 181861847 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813316 S 2 1 0 "" HuRef nsv834476 2 181887494 182068504 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442436 S 95 1 0 ITGA4 esv267478 2 181970409 181970743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576043,essv2546316,essv2521376,essv2542537,essv2536508,essv2522975,essv2568322,essv2545276,essv2531825,essv2570505,essv2521877,essv2576770,essv2525264,essv2535406,essv2544331,essv2558615,essv2576190,essv2564054,essv2562043,essv2534535,essv2561300,essv2568037,essv2553488,essv2533569,essv2573895,essv2531334,essv2573637,essv2543166,essv2538117,essv2533264,essv2524943,essv2563203 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07357,NA10847,NA11830,NA11881,NA11894,NA11919,NA11920,NA11931,NA11995,NA12003,NA12006,NA12044,NA12144,NA12154,NA12156,NA12249,NA12414,NA12750,NA12814,NA12828,NA12874,NA18561,NA18562,NA18577,NA18605,NA18944,NA18951,NA18961,NA18964,NA18965 nsv3063 2 181977814 182031290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7588,nssv4484 M 9 2 0 ITGA4 NA12156,NA12878 esv267462 2 181993407 181993510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505040,essv2493219,essv2494833,essv2508717,essv2497146,essv2499974,essv2505335,essv2500913,essv2503128,essv2495204,essv2493877,essv2501911,essv2498062 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA18504,NA18519,NA18532,NA18552,NA18558,NA18853,NA18856,NA18943,NA18964,NA19210,NA19239,NA19240 esv273336 2 181993409 181993748 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584773,essv2583526 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv819894 2 182054311 182055280 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419138 S 2 0 1 ITGA4 AK1 esv2620400 2 182063433 182065158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353738 S 1 0 1 ITGA4 NA18507 esv1979132 2 182064020 182064739 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903480 S 1 0 1 ITGA4 NA18507 esv3344 2 182064177 182064589 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25785 S 1 0 1 Single Asian sample YH ITGA4 YH esv2517753 2 182064217 182064531 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302713 S 1 0 1 ITGA4 NA18507 esv6797 2 182064224 182064538 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29238 S 1 0 1 ITGA4 SJK esv1005604 2 182064225 182064539 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578803 S 3 0 1 ITGA4 HuRef esv1571329 2 182064228 182064543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096357 S 2 0 1 ITGA4 HuRef nsv819063 2 182109195 182109557 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418915 S 2 0 1 ITGA4 AK1 nsv834477 2 182146366 182301772 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442437 S 95 1 0 CERKL,NEUROD1 nsv820203 2 182250972 182251342 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418921 S 2 1 0 NEUROD1 AK1 esv2489075 2 182273068 182274551 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224916 S 1 0 1 "" NA18507 esv2061638 2 182273292 182274030 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554392 S 1 0 1 "" NA18507 esv1010280 2 182273441 182274325 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563825 S 3 0 1 "" HuRef esv994270 2 182273485 182273812 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575932 S 3 0 1 "" HuRef esv2520502 2 182273491 182273818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230232 S 1 0 1 "" NA18507 esv1197213 2 182273500 182273828 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818998 S 2 0 1 "" HuRef esv7842 2 182273505 182273817 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30283 S 1 0 1 "" SJK esv1003696 2 182274127 182283898 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564933 S 3 0 1 "" HuRef nsv834478 2 182363056 182551446 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442438 S 95 1 0 SSFA2 esv2449048 2 182396669 182398067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287878 S 1 0 1 "" NA18507 esv28658 2 182441754 182444079 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21189 S 451 0 1 "" NA19108 nsv834479 2 182446728 182613689 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442439 S 95 1 0 PPP1R1C,SSFA2 esv2527716 2 182564681 182566276 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366058 S 1 0 1 PPP1R1C NA18507 dgv681n67 2 182564902 182565859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821836,nsv821837,nsv821838 M 31 0 9 PPP1R1C AK12,AK16,AK2,AK4,AK6,NA18947,NA18949,NA18972,NA18997 nsv819374 2 182564926 182565889 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419136 S 2 0 1 PPP1R1C AK1 esv2404437 2 182564988 182566019 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915121 S 1 0 1 PPP1R1C NA18507 esv24195 2 182565161 182565820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13315 S 451 0 13 PPP1R1C NA07037,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA18511,NA18861,NA18907,NA18909,NA19114,NA19240 esv271723 2 182594926 182595990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500368,essv2495111 M 157 2 0 Samples from several populations that are part of the HapMap project. PPP1R1C NA18537,NA18964 nsv875477 2 182646622 182794723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521540 S 6533 0 1 PDE1A,PPP1R1C SP52428 nsv875478 2 182668534 182706367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503838 S 6533 0 1 PPP1R1C SP52117 nsv3064 2 182730898 182764174 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2309 S 9 1 0 PDE1A NA18555 esv2433646 2 182798319 182800979 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256036 S 1 0 1 PDE1A NA18507 esv2343576 2 182798486 182800019 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749996 S 1 0 1 PDE1A NA18507 esv27621 2 182798667 182799901 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12907 S 451 0 7 PDE1A NA18502,NA18517,NA18523,NA19099,NA19108,NA19147,NA19190 esv1007075 2 182804581 182811466 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564059 S 3 0 1 PDE1A HuRef dgv479n27 2 182878761 182912614 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459956,nsv459955 M 1557 2 0 PDE1A HGDP01003,HGDP01012 nsv834481 2 182898003 183047822 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442441 S 95 1 0 PDE1A esv2465768 2 182899079 182900680 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291823 S 1 0 1 PDE1A NA18507 nsv516110 2 182980705 182981190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680969,nssv658555,nssv669116,nssv692149,nssv660056,nssv666255 M 2026 0 6 PDE1A esv2479479 2 183023613 183025141 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275634 S 1 0 1 PDE1A NA18507 esv2241730 2 183023862 183024554 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596064 S 1 0 1 PDE1A NA18507 esv2874 2 183024003 183024423 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25315 S 1 0 1 Single Asian sample YH PDE1A YH esv7845 2 183024048 183024392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30286 S 1 0 1 PDE1A SJK nsv215323 2 183024052 183024366 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233901 M 24 PDE1A esv2279238 2 183062789 183063217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669463 S 1 0 1 PDE1A NA18507 dgv682n67 2 183078823 183080306 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821841,nsv821839 M 31 6 0 PDE1A AK16,AK8,NA18537,NA18547,NA18566,NA18592 nsv821840 2 183078823 183080833 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423244 S 31 1 0 PDE1A NA18999 dgv1276e1 2 183145945 183543329 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv835,essv16402 M 271 0 0 DNAJC10,FRZB,NCKAP1 NA19139 dgv4377n71 2 183150688 183197494 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875480,nsv875479 M 6533 2 0 "" IS33959,IS39860 nsv528752 2 183175461 183179505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705414 S 2026 0 1 "" esv1442461 2 183199997 183199997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213812 S 2 1 0 "" HuRef esv1336883 2 183200051 183200051 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102512 S 2 1 0 "" HuRef esv1791699 2 183200156 183200243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291285 S 2 0 1 "" HuRef esv1049910 2 183200281 183200281 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159443 S 2 1 0 "" HuRef dgv4378n71 2 183216941 183290415 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875481,nsv875482 M 6533 0 2 DNAJC10 SP53821,SP57589 nsv459957 2 183217582 183279294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536599 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00819 nsv3066 2 183233688 183266743 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4485 S 9 1 0 "" NA12878 esv24932 2 183234528 183235169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13503 S 451 0 8 "" NA11993,NA12489,NA18517,NA18861,NA18909,NA19129,NA19147,NA19190 essv8969 2 183236915 183473175 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DNAJC10,FRZB NA19139 nsv875483 2 183245644 183366112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591645 S 6533 0 1 DNAJC10 IS39011 esv34847 2 183245644 183495008 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985419,essv6980874 M 771 1 0 DNAJC10,FRZB NA19139 nsv10204 2 183318013 183347995 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27509 S 31 0 1 Samples from several populations that are part of the HapMap project. DNAJC10 NA12802 nsv820264 2 183351432 183351610 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419026 S 2 1 0 DNAJC10 AK1 nsv818096 2 183409833 183535263 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416918 S 112 1 0 FRZB,NCKAP1 NA19139 nsv875484 2 183411209 183455687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540768 S 6533 0 1 FRZB MS15030 nsv10205 2 183467722 183470755 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28484 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv875485 2 183535263 183903510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595832 S 6533 1 0 DUSP19,NCKAP1,NUP35 IS40342 esv8239 2 183543530 183543586 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30680 S 1 1 0 NCKAP1 SJK esv26746 2 183697918 183698436 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16759 S 451 0 1 NUP35 NA18916 nsv875486 2 183724872 183804224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574671 S 6533 0 1 NUP35 IS33605 nsv821842 2 183738946 183746176 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424618,nssv1435751 M 31 0 2 "" NA18566,NA18968 nsv213440 2 183747311 183753230 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232018 M 24 "" nsv3067 2 183787664 183828202 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4486 S 9 0 1 "" NA12878 nsv508187 2 183788510 183808784 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618702 S 4 0 1 "" NA10860 nsv522952 2 183789017 183797494 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698620 S 2026 0 1 "" esv21801 2 183793691 183799241 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12332 S 451 0 2 "" NA11993,NA12878 esv2421754 2 183793698 183798067 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130281,essv5023959,essv5091532,essv5019843,essv5130184,essv5045905,essv5103984,essv5111543,essv5114368,essv5150615,essv5090270,essv5154151,essv5095740,essv5089328,essv5155243,essv5021165,essv5118844,essv5157927,essv5080447,essv5061068,essv5094464,essv5045756,essv5145211,essv5042332,essv5056013,essv5091461,essv5123535,essv5156932,essv5116547,essv5087789,essv5103148,essv5126998,essv5010889,essv5068539 M 1184 0 34 "" NA07347,NA10853,NA10863,NA11993,NA12155,NA12264,NA12282,NA12283,NA12376,NA12546,NA12718,NA12753,NA12763,NA12817,NA12827,NA12878,NA12890,NA12891,NA19679,NA20322,NA20505,NA20508,NA20509,NA20520,NA20540,NA20581,NA20804,NA20809,NA20812,NA20816,NA21099,NA21402,NA21404,NA21405 dgv480n27 2 183794033 183797494 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459959,nsv459958,nsv459960,nsv459961,nsv459963,nsv459964 M 1557 0 6 "" 1780862160_A,1782681217_A,HGDP00064,HGDP00729,HGDP01368,NINDS_168 nsv818097 2 183794033 183797494 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416134,nssv1417216,nssv1416135,nssv1415815,nssv1417205,nssv1415816 M 112 0 6 "" NA10860,NA10863,NA11993,NA12264,NA12878,NA12891 nsv517040 2 183794033 183804224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657637,nssv677642,nssv660230,nssv686034,nssv687379,nssv663557,nssv683004,nssv675701,nssv691941,nssv675072,nssv689242,nssv665318,nssv660992,nssv659611,nssv686777,nssv668905,nssv675872,nssv659899,nssv665649,nssv667200,nssv685226,nssv666319,nssv677897,nssv662511,nssv673565,nssv688359,nssv679521,nssv661930,nssv685815,nssv655589,nssv660651,nssv677750,nssv655001,nssv671020,nssv673751,nssv674749,nssv672734,nssv667499,nssv692629,nssv688296,nssv655630,nssv676587,nssv691353,nssv673902,nssv685644,nssv669064,nssv661609,nssv670315,nssv664484,nssv683538,nssv671523,nssv694031,nssv675060,nssv690522,nssv690955,nssv672564,nssv676864,nssv661563,nssv692686,nssv670452,nssv677594,nssv676149,nssv671003,nssv651674,nssv670390,nssv672443,nssv654377,nssv686002,nssv684009,nssv662558,nssv663853,nssv666284,nssv687560,nssv683398,nssv677963,nssv663757,nssv666031,nssv691585,nssv657141,nssv688105,nssv676808,nssv681834,nssv692315,nssv657862,nssv653309,nssv681909,nssv681800,nssv687049,nssv676608,nssv677214,nssv687841,nssv692805,nssv685458,nssv688423,nssv663023,nssv679560,nssv665688,nssv693010,nssv668354,nssv690865,nssv682231,nssv688307,nssv676906,nssv651691,nssv653665,nssv674493,nssv668425,nssv672000,nssv676199,nssv660959,nssv661858,nssv690701,nssv671490,nssv691079,nssv661983,nssv674849,nssv670270 M 2026 0 117 "" nsv442842 2 183794037 183797391 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv215031 2 183794134 183801673 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233609 M 24 "" nsv514106 2 183794800 183798816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627264 S 1414 0 1 "" esv1054730 2 183856889 183856889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788410 S 2 1 0 "" HuRef esv2193820 2 183860294 183860682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801712 S 1 0 1 "" NA18507 esv2973 2 183958195 183958674 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25414 S 1 0 1 Single Asian sample YH "" YH esv989813 2 183958212 183958554 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570012 S 3 0 1 "" HuRef esv1215947 2 183958226 183958569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994624 S 2 0 1 "" HuRef esv6129 2 183958227 183958560 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28570 S 1 0 1 "" SJK nsv213887 2 183958227 183958569 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232465 M 24 "" esv988081 2 184050254 184050828 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586742 S 3 1 0 "" HuRef esv21800 2 184050269 184050828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9793 S 451 0 1 "" NA18861 nsv508188 2 184061407 184091477 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622443 S 4 0 1 "" NA18994 dgv1277e1 2 184076718 184267153 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv208,essv3563 M 271 0 0 "" NA18965 nsv507055 2 184083183 184089183 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617576,nssv620740 M 4 2 0 "" CHM,NA15510 nsv215133 2 184085869 184085934 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233711 M 24 "" nsv507056 2 184106027 184112027 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621676 S 4 1 0 "" NA10860 esv2464829 2 184172892 184174399 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351486 S 1 0 1 "" NA18507 esv271768 2 184251090 184251449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510576,essv2494133,essv2493167,essv2504080,essv2498518,essv2509186,essv2502227 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18504,NA18505,NA18858,NA18909,NA19257 esv4703 2 184255130 184255376 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27144 S 1 0 1 Single Asian sample YH "" YH esv23615 2 184255145 184255759 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16068 S 451 0 1 "" NA18511 nsv527180 2 184264701 184290121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703576 S 2026 0 1 "" nsv499108 2 184277443 184279279 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585535 S 9 0 0 "" nsv821844 2 184279148 184280128 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424067 S 31 1 0 "" NA18582 nsv7334 2 184279169 184320174 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11026 S 9 0 0 "" NA15510 nsv821845 2 184279461 184280128 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438043 S 31 0 1 "" NA18951 nsv228 2 184279543 184312873 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv228 S 1 0 0 "" NA15510 esv21854 2 184290282 184291884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15773 S 451 0 1 "" NA18861 esv275188 2 184303631 184304203 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585933 S 1250 0 1 "" nsv10207 2 184309885 184313362 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11683 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv26155 2 184309977 184312956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12870 S 451 0 3 "" NA18508,NA18858,NA19129 esv2421835 2 184310980 184312430 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5031718,essv5022984,essv5046880,essv5064892,essv5037000,essv5136430,essv5150918,essv5063925,essv5124437,essv5060470,essv5032575,essv5090129,essv5042674,essv5073820,essv5067090,essv5056196,essv5029875,essv5079288,essv5089481,essv5129879,essv5092953,essv5103827,essv5038448,essv5060172,essv5036744,essv5042029,essv5159848,essv5052338,essv5037614,essv5141691,essv5039970,essv5113951,essv5076113,essv5098917,essv5042987,essv5126681,essv5090308,essv5018814,essv5024695,essv5038389,essv5035544,essv5134000,essv5138082,essv5152997 M 1184 0 44 "" NA18484,NA18508,NA18592,NA18858,NA18862,NA18863,NA19044,NA19102,NA19127,NA19129,NA19141,NA19181,NA19209,NA19211,NA19213,NA19215,NA19235,NA19237,NA19256,NA19314,NA19317,NA19318,NA19359,NA19384,NA19390,NA19445,NA19455,NA19701,NA19703,NA19705,NA19776,NA19777,NA19778,NA19908,NA20294,NA20295,NA20297,NA20300,NA20522,NA20534,NA21371,NA21399,NA21529,NA21722 dgv481n27 2 184395055 184402559 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459965,nsv459966 M 1557 0 2 "" 1780854255_A,1782681093_A nsv517714 2 184395055 184402559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675934,nssv652934,nssv675902,nssv674931,nssv670936,nssv684620,nssv683130,nssv680409 M 2026 0 8 "" nsv518077 2 184402559 184420964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695490 S 2026 0 1 "" nsv875487 2 184445527 184894915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550080 S 6533 0 1 "" MS18278 nsv437602 2 184502645 184514770 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467483 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12865 nsv441796 2 184502759 184510686 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514107 2 184502768 184509888 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627275 S 1414 0 1 "" dgv482n27 2 184505647 184509228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459970,nsv459972,nsv459971,nsv459969,nsv459974 M 1557 0 5 "" 1780862206_A,HGDP01164,HGDP01367,NINDS_118,NINDS_152 nsv516977 2 184505647 184509228 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680554,nssv658172,nssv675873,nssv691942,nssv656232,nssv674050,nssv657203,nssv669726,nssv655714,nssv691018,nssv667683,nssv660625,nssv655170,nssv685351,nssv668774,nssv683022,nssv683925,nssv667878,nssv687212,nssv653541,nssv670555,nssv686137,nssv688684,nssv689608 M 2026 0 24 "" nsv818098 2 184505647 184509228 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417228,nssv1415743,nssv1415742,nssv1416221 M 112 0 4 "" NA12056,NA12264,NA12865,NA12875 nsv522576 2 184505647 184534682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705962 S 2026 0 1 "" esv21708 2 184557135 184558711 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10469 S 451 0 1 "" NA18916 nsv459975 2 184571991 184609637 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536615 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01230 nsv819438 2 184625142 184629748 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419645 S 2 0 1 "" AK1 nsv436288 2 184629181 184641045 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465963 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv517730 2 184646646 184662670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653029,nssv659015,nssv668590 M 2026 0 3 "" nsv834482 2 184647793 184774880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442443,nssv1442442 M 95 2 0 "" nsv875488 2 184684040 184800153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577654 S 6533 0 1 "" IS34518 nsv459976 2 184704192 184775978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536616 S 1557 0 1 "" 1782681093_A nsv3068 2 184708624 184740017 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4487 S 9 1 0 "" NA12878 nsv520954 2 184738537 184775978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678477,nssv679522,nssv691752 M 2026 0 3 "" nsv875489 2 184747435 184820099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556300 S 6533 0 1 "" MS21905 nsv459977 2 184747435 184822613 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536617 S 1557 0 1 "" NINDS_104 nsv525791 2 184747435 184822613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701971 S 2026 0 1 "" dgv4379n71 2 184775978 184906380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875492,nsv875490 M 6533 0 2 "" IS31094,MS10544 nsv834483 2 184790998 184935673 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442444 S 95 1 0 "" nsv818099 2 184800153 184842482 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416919,nssv1416920 M 112 0 2 "" NA19137,NA19139 nsv437303 2 184800153 184853344 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467184 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19139 nsv875491 2 184800153 184866619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563152 S 6533 0 1 "" MS25887 esv22644 2 184807826 184847685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12193 S 451 0 1 "" NA19225 nsv459978 2 184807930 184815577 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536618 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00970 nsv459979 2 184807930 184841327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536619 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00986 nsv470501 2 184807930 184842482 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547270,nssv547272,nssv547269,nssv547271 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00986,HGDP01085,HGDP01411,HGDP01412 nsv515830 2 184807930 184842482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690679,nssv664918,nssv687447,nssv670046,nssv678074,nssv652186,nssv684717,nssv665478,nssv655946,nssv669379,nssv687585,nssv668677,nssv687026,nssv687869,nssv670121,nssv653782,nssv684360,nssv693060,nssv686600,nssv674474,nssv672988,nssv669658,nssv671849,nssv657098,nssv653054,nssv672076,nssv681081,nssv693666 M 2026 0 28 "" esv2421981 2 184807930 184845163 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143387,essv5078455,essv5109350,essv5050832,essv5153504,essv5026593,essv5143199,essv5123733,essv5009500,essv5139522,essv5013681,essv5065250,essv5044189,essv5044767,essv5095253,essv5132929,essv5081717,essv5018914,essv5044984,essv5097330,essv5002953,essv5069998,essv5007775,essv5112285,essv5013910,essv5059324 M 1184 0 26 "" NA19027,NA19035,NA19137,NA19139,NA19214,NA19215,NA19224,NA19225,NA19310,NA19313,NA19324,NA19334,NA19373,NA19382,NA19391,NA19404,NA19430,NA19434,NA19443,NA19462,NA19708,NA20294,NA20295,NA20335,NA21619,NA21635 nsv875493 2 184808780 184839920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551712 S 6533 0 1 "" MS18978 dgv4380n71 2 184812360 184995632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875496,nsv875494 M 6533 0 2 "" IS35572,IS36219 nsv875495 2 184821223 184942347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568270 S 6533 0 1 "" IS31228 esv273415 2 184833806 184834039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580140,essv2579954,essv2580857,essv2579287,essv2579804 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv269146 2 184833820 184834129 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504467,essv2499488,essv2495887,essv2503428,essv2500312,essv2503874,essv2504401 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA11993,NA12044,NA12489,NA12716,NA12891 nsv438375 2 184836366 184842482 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471175,nssv471176 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19137,NA19139 nsv875497 2 184842482 185183015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550785 S 6533 0 1 ZNF804A MS18620 nsv818101 2 184866619 184896817 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415818 S 112 0 1 "" NA11992 dgv232n21 2 184874717 186001580 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522737,nsv528385 M 2026 0 2 ZNF804A nsv875498 2 184918855 185034496 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513453 S 6533 1 0 "" SP55765 nsv818102 2 184918855 185048166 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416921 S 112 0 1 "" NA19138 dgv1278e1 2 184918990 185079031 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1262,essv11060 M 271 0 0 "" NA19138 dgv4381n71 2 184920491 184992674 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875499,nsv875500 M 6533 0 2 "" IS35911,MS18847 dgv4382n71 2 184946926 184995632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875505,nsv875501,nsv875509,nsv875507,nsv875503 M 6533 0 8 "" IS30635,IS31581,IS31651,IS31804,IS37065,IS40067,MS10699,SP54030 dgv64n17 2 184947693 184977209 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437304,nsv437305 M 60 0 2 "" NA18500,NA18503 dgv4383n71 2 184951101 184992674 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875508,nsv875502 M 6533 2 0 "" IS38330,IS39373 nsv875504 2 184951101 184992674 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554589,nssv1555260,nssv1571237 M 6533 1 2 "" IS32653,MS20872,MS21252 nsv875506 2 184951101 185047720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566141 S 6533 0 1 "" IS30597 esv29061 2 184954810 184972842 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18544 S 451 0 4 "" NA18907,NA19108,NA19114,NA19190 nsv436271 2 184954893 184973428 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465964 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2421515 2 184955017 184973074 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5137212,essv5106895,essv5072631,essv5002509,essv5061813,essv5022543,essv5150748,essv5103985,essv5148786,essv5008036,essv5134852,essv5028513,essv5027146,essv5079520,essv5041430,essv5038918,essv5030308,essv5142932,essv5063138,essv5019236,essv5118070,essv5065009,essv5013514,essv5099110,essv5076967,essv5158625,essv5021703,essv5016995,essv5116156,essv5083775,essv5101099,essv5094334,essv5101323,essv5040289,essv5133698,essv5134864,essv5139727,essv5135709,essv5142764,essv5091334,essv5127197,essv5118347,essv5074434,essv5023188,essv5092970,essv5089387,essv5085918,essv5130273,essv5090174,essv5074076,essv5004692,essv5127199,essv5131019,essv5055178,essv5017201,essv5118594,essv5158876,essv5142023,essv5082720,essv5080928,essv5096864,essv5007258,essv5101775,essv5154118,essv5121405,essv5026098,essv5112392,essv5093972,essv5071088,essv5137458,essv5113379,essv5136293,essv5074970,essv5080906,essv5130859,essv5127495,essv5158885,essv5070119,essv5097827,essv5077130,essv5067487 M 1184 0 81 "" NA18500,NA18501,NA18503,NA18505,NA18515,NA18516,NA18518,NA18519,NA18868,NA18912,NA18917,NA18933,NA19031,NA19044,NA19046,NA19101,NA19108,NA19113,NA19114,NA19138,NA19175,NA19179,NA19180,NA19185,NA19186,NA19190,NA19193,NA19200,NA19201,NA19202,NA19204,NA19248,NA19249,NA19256,NA19258,NA19310,NA19314,NA19316,NA19318,NA19328,NA19359,NA19372,NA19375,NA19379,NA19380,NA19384,NA19385,NA19393,NA19396,NA19397,NA19439,NA19446,NA19449,NA19456,NA20288,NA20289,NA20295,NA20319,NA20341,NA21300,NA21316,NA21382,NA21383,NA21402,NA21435,NA21439,NA21441,NA21442,NA21447,NA21519,NA21520,NA21587,NA21597,NA21613,NA21617,NA21647,NA21648,NA21685,NA21686,NA21722,NA21740 nsv438376 2 184960086 184960760 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471180,nssv471177,nssv471178,nssv471181 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18503,NA18505 nsv514110 2 184965280 184972784 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627286 S 1414 0 1 "" nsv442843 2 184965298 184973074 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv32531 2 184968080 184968522 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93195 S 51 1 0 "" 22170 nsv818103 2 184987332 184990791 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417833 S 112 1 0 "" NA18852 dgv4384n71 2 185004503 185108548 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875510,nsv875511 M 6533 0 2 "" MS12542,MS12780 nsv875512 2 185008886 185183015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591646 S 6533 0 1 ZNF804A IS39011 nsv523918 2 185034496 185035925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699761 S 2026 0 1 "" nsv215165 2 185104446 185104446 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233743 M 24 "" nsv834484 2 185258251 185470973 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442446,nssv1442448,nssv1442447,nssv1442445 M 95 4 0 ZNF804A nsv3069 2 185318900 185352511 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5839 S 9 1 0 ZNF804A NA19129 esv1929674 2 185343317 185343758 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937461 S 1 0 1 ZNF804A NA18507 nsv508189 2 185403521 185409532 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622444 S 4 0 1 ZNF804A NA18994 nsv520974 2 185450719 185856475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697716 S 2026 0 1 ZNF804A nsv821846 2 185461473 185483076 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439561 S 31 1 0 ZNF804A NA18537 nsv818104 2 185464327 185479990 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417132 S 112 1 0 ZNF804A NA18537 nsv517466 2 185464327 185486507 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652096,nssv681551,nssv679022 M 2026 3 0 ZNF804A esv274639 2 185469783 185470126 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581814,essv2582613,essv2582965 M 7 3 0 Samples from several populations that are part of the HapMap project. ZNF804A NA12878,NA12891,NA12892 esv270269 2 185469787 185470130 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505082,essv2500240,essv2495860,essv2503393,essv2503775,essv2493380,essv2505016,essv2508860,essv2500305,essv2502843,essv2500040,essv2494457,essv2511572 M 157 13 0 Samples from several populations that are part of the HapMap project. ZNF804A NA07346,NA11995,NA12006,NA12489,NA12716,NA12761,NA12776,NA12828,NA12878,NA12891,NA12892,NA18558,NA18572 nsv875513 2 185544143 185697570 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568271 S 6533 0 1 "" IS31228 nsv875514 2 185573985 185947852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582919,nssv1591647 M 6533 0 2 "" IS36219,IS39011 nsv508190 2 185592807 185636583 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620199 S 4 0 1 "" NA15510 nsv834485 2 185685858 185856727 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442449 S 95 1 0 "" dgv4385n71 2 185700812 185947852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875517,nsv875515,nsv875518 M 6533 0 4 "" IS30597,IS31070,IS31074,MS18620 esv272611 2 185709985 185710331 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579067 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268795 2 185709995 185710333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540689,essv2543799,essv2550520,essv2535105,essv2529066,essv2558627,essv2576305,essv2564154,essv2561753,essv2520843,essv2557313,essv2552408,essv2551674,essv2532415,essv2569449,essv2578564,essv2558829,essv2538894,essv2569749,essv2527361,essv2561648,essv2523501,essv2541526,essv2550997,essv2568966,essv2528012,essv2562318,essv2578122,essv2573419,essv2529696,essv2575716,essv2526631,essv2524230,essv2574943,essv2530400,essv2568781,essv2571374,essv2545977,essv2547643,essv2563214,essv2557773 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA10851,NA11831,NA11992,NA12155,NA12249,NA12749,NA12750,NA12814,NA12828,NA12874,NA18498,NA18499,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18519,NA18520,NA18522,NA18523,NA18537,NA18592,NA18858,NA18861,NA18907,NA18909,NA18940,NA18964,NA19093,NA19099,NA19114,NA19129,NA19138,NA19141,NA19147,NA19238,NA19239 esv1703408 2 185710025 185710025 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317524 S 2 1 0 "" HuRef nsv875516 2 185739735 185832954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561747,nssv1532982,nssv1559047 M 6533 0 3 "" MS10959,MS23702,MS25216 nsv518358 2 185752872 185881308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695785 S 2026 0 1 "" nsv875519 2 185817565 185922000 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572911 S 6533 0 1 "" IS33196 nsv508878 2 185823951 185906500 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623358 S 4 1 0 "" NA18994 dgv4386n71 2 185881308 185947852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875520,nsv875523 M 6533 0 3 "" IS31205,MS15312,MS18648 nsv875521 2 185887059 185947852 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593224,nssv1558464,nssv1570029,nssv1571147 M 6533 1 3 "" IS31766,IS32615,IS39373,MS23290 nsv875522 2 185887059 185967898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575507 S 6533 0 1 "" IS33763 nsv875524 2 185914337 185947852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566733,nssv1579960,nssv1569830,nssv1555623,nssv1579607,nssv1583763 M 6533 0 6 "" IS30899,IS31728,IS35145,IS35196,IS36656,MS21470 nsv459982 2 185922000 186183835 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536620 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00336 dgv4387n71 2 185931748 186142703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875525,nsv875526 M 6533 0 2 "" IS37059,IS38395 nsv470502 2 185953898 186017983 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547273 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00912 nsv459983 2 185953898 186085498 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536621 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00912 dgv233n21 2 185966654 186005319 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518379,nsv524452 M 2026 0 2 "" dgv4388n71 2 185980304 186212420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875527,nsv875536,nsv875531,nsv875530,nsv875528,nsv875534,nsv875535 M 6533 0 10 "" IS30522,IS30597,IS31074,IS31285,IS37226,IS39944,IS41043,MS10699,MS25751,SP54579 dgv483n27 2 186001580 186130907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459986,nsv459985 M 1557 0 2 "" 1782681169_A,HGDP00133 dgv4389n71 2 186011775 186142703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875533,nsv875529,nsv875532 M 6533 0 3 "" IS35244,IS39784,SP56294 nsv821847 2 186034711 186035761 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433531 S 31 0 1 "" NA18526 dgv4390n71 2 186044774 186142703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875537,nsv875542,nsv875538 M 6533 0 4 "" IS30490,IS31401,IS34856,SP52093 nsv875539 2 186053393 186183835 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595911,nssv1535546,nssv1596601,nssv1537919,nssv1532224,nssv1561807,nssv1522000,nssv1588815,nssv1594942 M 6533 1 8 "" IS38254,IS40067,IS40368,IS40573,MS10737,MS12266,MS13426,MS25241,SP52694 dgv4391n71 2 186053393 186306771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875540,nsv875541 M 6533 0 3 "" IS31205,IS36656,MS22104 nsv875543 2 186074163 186197782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537283 S 6533 0 1 "" MS13154 nsv875544 2 186104884 186167148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518120 S 6533 0 1 "" SP57469 nsv3070 2 186182540 186216695 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3040 S 9 1 0 "" NA18555 esv2751838 2 186240080 186299802 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989467,essv6984991 M 771 0 1 "" SPC_29 nsv875545 2 186274269 186988409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546033 S 6533 0 1 FSIP2 MS17113 esv2037425 2 186408101 186408750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756194 S 1 0 1 "" NA18507 esv25187 2 186449668 186455613 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18337 S 451 0 1 "" NA18502 nsv875546 2 186464593 186600499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565765 S 6533 0 1 "" IS30522 nsv459987 2 186498723 186568375 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536625 S 1557 0 1 "" NINDS_114 dgv4392n71 2 186506494 186723060 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875550,nsv875547 M 6533 0 2 "" IS33419,MS12432 nsv875548 2 186506494 186872902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594840 S 6533 0 1 "" IS40039 nsv875549 2 186515513 186620337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574222 S 6533 0 1 "" IS33531 nsv214275 2 186544768 186544829 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232853 M 24 "" nsv875551 2 186552824 186673388 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580293 S 6533 1 0 "" IS35261 esv268660 2 186579660 186579935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496557,essv2494688 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18519 esv32704 2 186785313 186785430 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100644 S 51 0 1 "" 21656 esv268996 2 186868338 186868467 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498668,essv2496938 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19138,NA19190 nsv3071 2 186916285 186960927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7589 S 9 0 1 "" NA12156 nsv3072 2 186965229 186999577 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1559 S 9 1 0 "" NA19240 dgv1279e1 2 187041025 187288792 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24810,esv833 M 271 0 0 FAM171B,ITGAV,ZC3H15 NA10860 nsv459988 2 187073123 187148928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536626 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZC3H15 HGDP00737 nsv875552 2 187101974 187213731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579794 S 6533 0 1 ITGAV IS35181 dgv1280e1 2 187124844 187200987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21359,essv22261 M 271 0 0 ITGAV NA10860,NA11992 nsv818105 2 187131543 187190080 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415819,nssv1415820 M 112 2 0 ITGAV NA10860,NA11992 esv1007920 2 187135557 187146069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564126 S 3 0 1 "" HuRef esv2629501 2 187144829 187146307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318936 S 1 0 1 "" NA18507 nsv10208 2 187144964 187151602 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11637 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2181433 2 187145187 187145729 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541811 S 1 0 1 "" NA18507 esv1634124 2 187178772 187178772 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073207 S 2 1 0 ITGAV HuRef esv1373093 2 187372101 187372101 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966347 S 2 1 0 "" HuRef nsv528437 2 187487075 187616146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705031 S 2026 1 0 "" nsv528930 2 187516575 187540249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705620 S 2026 0 1 "" esv22885 2 187552509 187558663 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10540 S 451 1 0 "" NA12156 nsv875553 2 187565182 187775600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594744 S 6533 0 1 "" IS40012 nsv875554 2 187582053 187673187 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588324 S 6533 1 0 "" IS38180 nsv834486 2 187584573 187741210 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442450,nssv1442453,nssv1442452 M 95 2 1 "" esv274234 2 187646721 187646806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581537 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv875555 2 187731352 187851922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579245 S 6533 0 1 "" IS35078 esv2751839 2 187744192 187849935 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989899,essv6984020 M 771 0 1 "" BEC_745 nsv875556 2 187791545 187843899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519547 S 6533 0 1 "" SP81085 esv1439891 2 187846627 187846627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803345 S 2 1 0 "" HuRef nsv834487 2 187890801 188061608 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442454 S 95 1 0 CALCRL,TFPI esv2249015 2 187923775 187924477 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768542 S 1 0 1 CALCRL NA18507 esv3033 2 187923916 187924412 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25474 S 1 0 1 Single Asian sample YH CALCRL YH esv992040 2 187923972 187924278 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574593 S 3 0 1 CALCRL HuRef esv1045156 2 187923975 187924282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904440 S 2 0 1 CALCRL HuRef esv6916 2 187923976 187924278 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29357 S 1 0 1 CALCRL SJK dgv4393n71 2 187927297 188098357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875558,nsv875559,nsv875557 M 6533 0 5 CALCRL,TFPI IS31179,IS35083,IS35742,MS15199,MS23290 nsv875560 2 187927297 188216256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537920 S 6533 0 1 CALCRL,TFPI MS13426 dgv4394n71 2 187935145 188148997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875561,nsv875564,nsv875565 M 6533 0 4 CALCRL,TFPI IS33616,IS37065,MS19634,MS22104 nsv517687 2 187942923 187946579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672924,nssv666459,nssv652839,nssv683434,nssv670676,nssv667321,nssv670799,nssv679696 M 2026 0 8 CALCRL dgv4395n71 2 187967149 188096556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875562,nsv875563 M 6533 0 5 CALCRL,TFPI IS30923,IS35229,MS12266,MS21252,MS25751 dgv4396n71 2 187967149 188398432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875566,nsv875568,nsv875578,nsv875567 M 6533 0 4 CALCRL,TFPI IS31228,IS35100,IS37226,MS18847 nsv834488 2 187976679 188123741 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442457,nssv1442456,nssv1442455 M 95 2 1 CALCRL,TFPI esv1009899 2 187992762 187994881 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565386 S 3 0 1 CALCRL HuRef nsv459989 2 188016885 188026432 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536627 S 1557 0 1 CALCRL 1782681274_A dgv4397n71 2 188036149 188051376 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875573,nsv875570,nsv875571,nsv875569 M 6533 0 4 TFPI SP52717,SP53601,SP54516,SP56007 nsv875572 2 188038927 188064080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505553 S 6533 0 1 TFPI SP53687 nsv875574 2 188041309 188049292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517484 S 6533 0 1 TFPI SP57292 nsv875575 2 188047594 188061092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503543 S 6533 1 0 TFPI SP52077 dgv4398n71 2 188051742 188209175 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875577,nsv875576 M 6533 0 2 TFPI IS31285,IS39718 nsv875579 2 188054705 188061908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515755,nssv1509128 M 6533 0 2 TFPI SP54753,SP56267 dgv4399n71 2 188078477 188229479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875581,nsv875583,nsv875580,nsv875582 M 6533 0 4 TFPI IS32607,IS33475,IS40067,IS41964 dgv1281e1 2 188088287 188211430 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22158,esv485 M 271 0 0 TFPI NA10857 esv28153 2 188092371 188097637 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13703 S 451 0 1 TFPI NA19240 nsv875584 2 188122406 188209175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555080 S 6533 0 1 TFPI MS21189 esv1665813 2 188129843 188130362 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258958 S 2 0 1 "" HuRef dgv4400n71 2 188132770 188398432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875590,nsv875585,nsv875592,nsv875588,nsv875589,nsv875594 M 6533 0 7 "" IS30667,IS31306,IS33786,IS34962,IS36722,IS38846,MS15199 nsv875586 2 188160769 188216256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523434 S 6533 0 1 "" SP54030 nsv875587 2 188169683 188273841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517721 S 6533 0 1 "" SP57367 dgv4401n71 2 188182215 188348899 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875591,nsv875593 M 6533 0 2 "" IS31054,IS31179 nsv519231 2 188200108 188209175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696722 S 2026 0 1 "" esv1220158 2 188210241 188210315 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194823 S 2 0 1 "" HuRef esv2048265 2 188213251 188213962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731691 S 1 0 1 "" NA18507 dgv683n67 2 188213287 188213872 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821850,nsv821851,nsv821849,nsv821848 M 31 9 0 "" AK10,AK12,NA18566,NA18592,NA18949,NA18968,NA18969,NA18997,NA18999 nsv820946 2 188213287 188213872 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420281 S 1 0 1 "" NA10851 nsv820148 2 188213336 188213902 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419007 S 2 1 0 "" AK1 nsv875595 2 188281489 188398432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570313 S 6533 0 1 "" IS31879 nsv875596 2 188281489 188452270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562479 S 6533 0 1 "" MS25617 nsv875597 2 188281489 188624535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578075 S 6533 0 1 "" IS34658 nsv459990 2 188315648 188391900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536628 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00144 nsv213421 2 188360896 188363219 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231999 M 24 "" nsv459991 2 188387218 188501483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536629 S 1557 0 1 "" 1780854536_A esv29843 2 188438436 188443232 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9996 S 451 1 0 "" NA12156 nsv875598 2 188473100 188517777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556005 S 6533 0 1 "" MS21738 nsv523293 2 188482926 188636678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699033 S 2026 0 1 "" nsv875599 2 188488962 188541551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500048 S 6533 1 0 "" SP50084 nsv3073 2 188535424 188540787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7590 S 9 1 0 "" NA12156 nsv470503 2 188545793 188604642 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547274 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00570 nsv875600 2 188566032 188602181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597066,nssv1566896 M 6533 0 2 "" IS30976,IS40729 nsv875601 2 188579681 188643022 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590304 S 6533 0 1 "" IS38490 dgv4402n71 2 188632018 188734222 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875602,nsv875603 M 6533 0 3 "" IS32411,IS34962,IS35181 nsv875604 2 188665885 188751382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600763 S 6533 0 1 "" IS41924 dgv684n67 2 188693461 188709399 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821853,nsv821852 M 31 2 0 "" NA18947,NA18972 nsv875605 2 188725744 188788332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518321 S 6533 1 0 "" SP57489 nsv521460 2 188734222 188755145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698070 S 2026 0 1 "" nsv821855 2 188737359 188737817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438044 S 31 0 1 "" NA18951 nsv511165 2 188821056 188830474 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626166 S 1 0 1 "" 1 nsv511829 2 188827590 188830032 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626484 S 1 0 1 "" 1 nsv820445 2 188827794 188829310 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420282 S 1 0 1 "" NA10851 nsv821856 2 188827794 188829310 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428135,nssv1423246,nssv1426511,nssv1433532,nssv1422479,nssv1425612,nssv1421568,nssv1437325,nssv1434287,nssv1430451,nssv1439562 M 31 0 11 "" AK10,AK16,AK4,AK6,NA18526,NA18537,NA18552,NA18570,NA18949,NA18997,NA18999 esv6145 2 188827855 188829233 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28586 S 1 0 1 "" SJK esv26176 2 188827878 188829223 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15502 S 451 18 5 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12489,NA12749,NA12776,NA12828,NA12878,NA18523,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147 nsv821857 2 188828155 188828977 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431180,nssv1440935,nssv1432701,nssv1428925 M 31 0 4 "" AK12,AK18,NA18969,NA18972 esv267494 2 188871241 188871557 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516673,essv2518746,essv2518608,essv2517721,essv2516169,essv2516912 M 157 6 0 Samples from several populations that are part of the HapMap project. GULP1 NA11881,NA12045,NA12287,NA12878,NA12891,NA12892 esv272454 2 188871247 188871551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582150,essv2582619,essv2582776 M 7 3 0 Samples from several populations that are part of the HapMap project. GULP1 NA12878,NA12891,NA12892 esv275130 2 188893376 188896763 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585150,essv2586143 M 1250 1 1 GULP1 nsv524228 2 188902274 188907440 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700117 S 2026 1 0 GULP1 esv273105 2 188917894 188918270 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580435 S 7 1 0 Samples from several populations that are part of the HapMap project. GULP1 NA12891 esv269314 2 188917968 188918334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514525,essv2514438,essv2516228 M 157 3 0 Samples from several populations that are part of the HapMap project. GULP1 NA11840,NA12874,NA12891 esv27753 2 188975508 188985426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9852 S 451 0 1 GULP1 NA18858 esv274925 2 188993490 188999578 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585310,essv2585984 M 1250 1 1 GULP1 nsv834489 2 189037272 189202469 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442458 S 95 1 0 GULP1 esv8987 2 189123892 189123995 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31428 S 1 1 0 GULP1 SJK nsv508122 2 189219594 189225594 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623883 S 4 0 1 "" NA18994 nsv437306 2 189273506 189292898 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467187 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 nsv10209 2 189275929 189291242 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11502,nssv11713 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504 esv29326 2 189276085 189288584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10179,esv10318 M 451 0 4 "" NA18502,NA19099,NA19190,NA19225 esv2421956 2 189276201 189287574 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5045852,essv5008326,essv5117024,essv5105134,essv5110889,essv5071126,essv5062326,essv5030116,essv5072225,essv5050653,essv5069232,essv5018410,essv5097666,essv5070007,essv5062423,essv5148902,essv5042068,essv5142344,essv5023780,essv5024483,essv5072316,essv5107487,essv5075029,essv5097409,essv5022189,essv5027031,essv5092056,essv5056488,essv5050814,essv5112704,essv5037462,essv5003498,essv5157775,essv5135295,essv5101961,essv5033215,essv5079719,essv5093862,essv5157372,essv5088863,essv5145254,essv5015794,essv5063239,essv5007347,essv5046363,essv5095049,essv5013730,essv5084022,essv5094727,essv5110256,essv5022505,essv5004300,essv5137801,essv5041304,essv5132901,essv5123711,essv5009219,essv5010397,essv5140027,essv5142016,essv5136156,essv5157361,essv5016765,essv5147283,essv5145084,essv5140342,essv5135999,essv5058482,essv5004915,essv5114213,essv5154699,essv5022573,essv5107088,essv5012272,essv5045317,essv5142360,essv5143651,essv5142356 M 1184 0 78 "" NA18489,NA18503,NA18504,NA18857,NA18862,NA18863,NA18912,NA18924,NA19027,NA19028,NA19036,NA19041,NA19044,NA19095,NA19098,NA19099,NA19113,NA19115,NA19149,NA19151,NA19172,NA19190,NA19209,NA19210,NA19211,NA19214,NA19215,NA19224,NA19225,NA19226,NA19313,NA19314,NA19318,NA19319,NA19324,NA19328,NA19359,NA19371,NA19385,NA19429,NA19434,NA19436,NA19439,NA19444,NA19457,NA19625,NA19700,NA19702,NA19704,NA19711,NA19712,NA19908,NA19915,NA19919,NA20129,NA20277,NA20284,NA20289,NA20291,NA20292,NA20294,NA20297,NA20335,NA20341,NA20344,NA20345,NA20348,NA20538,NA21301,NA21308,NA21352,NA21371,NA21379,NA21414,NA21438,NA21617,NA21825,NA21826 nsv442844 2 189276201 189287574 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515712 2 189277306 189278580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676082,nssv675090,nssv658692,nssv657990,nssv675638,nssv683595,nssv681161,nssv693104,nssv675935,nssv656143,nssv661746,nssv664505,nssv674721,nssv659199,nssv688173,nssv679082,nssv678010,nssv668272 M 2026 0 18 "" nsv514111 2 189278352 189286752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627297 S 1414 0 1 "" esv1709012 2 189284203 189284203 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902232 S 2 1 0 "" HuRef dgv4403n71 2 189287290 189420035 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875606,nsv875607 M 6533 2 0 DIRC1 SP54424,SP56104 nsv215472 2 189362219 189362274 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234050 M 24 DIRC1 esv1004927 2 189362296 189362355 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577891 S 3 0 1 DIRC1 HuRef esv1222504 2 189362335 189362395 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767080 S 2 0 1 DIRC1 HuRef esv274358 2 189381356 189381777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580532,essv2579352 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 nsv834490 2 189411795 189549208 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442459 S 95 1 0 COL3A1 esv4236 2 189438791 189448384 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26677 S 1 0 1 Single Asian sample YH "" YH nsv821858 2 189442053 189448274 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422480 S 31 0 1 "" NA18552 esv8039 2 189445282 189445373 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30480 S 1 1 0 "" SJK nsv875608 2 189462068 189546240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554437 S 6533 0 1 "" MS20813 nsv459992 2 189504517 189564188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536630 S 1557 0 1 COL3A1,MIR1245,MIR1245B 1780862459_A nsv875609 2 189504517 189570342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581962,nssv1551277 M 6533 0 2 COL3A1,MIR1245,MIR1245B,MIR3606 IS35771,MS18847 nsv875610 2 189504517 189612919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566983 S 6533 0 1 COL3A1,COL5A2,MIR1245,MIR1245B,MIR3606 IS31041 nsv875611 2 189507744 189545457 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499920 S 6533 1 0 "" SP50084 esv269246 2 189515038 189515349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501163,essv2513281,essv2507389,essv2506658,essv2497695 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18907,NA18912,NA19108,NA19147 nsv875612 2 189549297 189587014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565923 S 6533 0 1 COL3A1,MIR1245,MIR1245B,MIR3606 IS30539 esv2203663 2 189553161 189553628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899636 S 1 0 1 COL3A1 NA18507 esv990670 2 189553335 189553386 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566776 S 3 0 1 COL3A1 HuRef esv993048 2 189553335 189553412 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571151 S 3 0 1 COL3A1 HuRef esv1030122 2 189553367 189553445 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363516 S 2 0 1 COL3A1 HuRef esv268920 2 189562089 189562422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536629,essv2531953,essv2537477,essv2546813,essv2557106,essv2552537,essv2551844,essv2532371,essv2569523,essv2578740,essv2558751,essv2536909,essv2538867,essv2527194,essv2562802,essv2552919,essv2532811,essv2535510,essv2542151,essv2550906,essv2543518,essv2556139,essv2527907,essv2539248,essv2543199,essv2577002,essv2529522,essv2575757,essv2538825,essv2530383,essv2568798,essv2548116,essv2549694,essv2571533,essv2574140,essv2533170,essv2547696 M 157 37 0 Samples from several populations that are part of the HapMap project. COL3A1 NA07051,NA07347,NA11920,NA12006,NA12878,NA12892,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18532,NA18542,NA18576,NA18608,NA18856,NA18858,NA18870,NA18871,NA18907,NA18912,NA18965,NA18970,NA19093,NA19099,NA19108,NA19141,NA19147,NA19210,NA19225,NA19238,NA19240 esv272418 2 189562091 189562417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581964,essv2583078,essv2584306,essv2583644 M 7 4 0 Samples from several populations that are part of the HapMap project. COL3A1 NA12878,NA12892,NA19238,NA19240 nsv821859 2 189609096 189609554 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425613 S 31 1 0 COL5A2 AK4 nsv3074 2 189639508 189684369 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7591 S 9 0 1 COL5A2 NA12156 esv269940 2 189667649 189667975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565836,essv2575952,essv2571755,essv2546459,essv2521316,essv2526071,essv2542408,essv2536490,essv2522922,essv2544136,essv2570951,essv2568401,essv2545311,essv2523467,essv2532026,essv2577502,essv2570538,essv2548172,essv2521572,essv2576859,essv2550531,essv2525254,essv2550508,essv2535220,essv2554165,essv2544396,essv2552160,essv2520674,essv2547289,essv2529345,essv2558291,essv2564546,essv2577909,essv2553870,essv2559561,essv2565367,essv2564272,essv2530604,essv2561957,essv2537432,essv2528549,essv2546772,essv2540124,essv2557526,essv2552336,essv2532275,essv2538950,essv2561579,essv2545000,essv2562999,essv2523509,essv2552795,essv2541140,essv2538248,essv2542953,essv2540348,essv2524370,essv2565134,essv2534694,essv2560955,essv2539621,essv2549258,essv2560033,essv2522227,essv2566297,essv2528848,essv2567565,essv2570034,essv2563861,essv2553372,essv2535832,essv2572255,essv2559039,essv2551062,essv2543685,essv2527986,essv2562276,essv2533985,essv2533636,essv2555726,essv2567052,essv2566436,essv2530082,essv2573835,essv2527636,essv2555973,essv2534500,essv2531595,essv2573581,essv2577160,essv2572040,essv2526907,essv2529560,essv2575707,essv2575039,essv2538570,essv2526439,essv2560607,essv2524009,essv2560819,essv2574939,essv2572834,essv2568592,essv2560214,essv2571088,essv2545745,essv2574420,essv2536342,essv2537824,essv2548978,essv2533149,essv2554624,essv2547731,essv2524881,essv2557836 M 157 115 0 Samples from several populations that are part of the HapMap project. COL5A2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18502,NA18505,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18870,NA18907,NA18909,NA18916,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240 esv273345 2 189667653 189667977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581656,essv2582559,essv2583115,essv2584216,essv2584456,essv2583775 M 7 6 0 Samples from several populations that are part of the HapMap project. COL5A2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv214396 2 189667667 189667667 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232974 M 24 COL5A2 esv1526387 2 189667679 189667679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683435 S 2 1 0 COL5A2 HuRef nsv875613 2 189707256 190032930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554438 S 6533 0 1 COL5A2,WDR75 MS20813 nsv875614 2 189819086 189963003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577923 S 6533 1 0 "" IS34599 nsv507057 2 189841376 189847376 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617577,nssv620741,nssv622831,nssv621677 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv519299 2 189858450 189859385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696775 S 2026 0 1 "" nsv3075 2 189910905 189943812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6890 S 9 1 0 "" NA12156 nsv875615 2 189923772 190152637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526189 S 6533 1 0 SLC40A1,WDR75 SP57062 nsv3078 2 189957761 189967180 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4488 S 9 1 0 "" NA12878 nsv3079 2 189993385 190024063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11027 S 9 1 0 WDR75 NA15510 esv1225167 2 190105759 190105759 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343868 S 2 1 0 "" HuRef esv1577460 2 190105815 190105940 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666031 S 2 0 1 "" HuRef esv1002250 2 190105822 190105961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582968 S 3 0 1 "" HuRef esv2515775 2 190106118 190107342 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211035 S 1 0 1 "" NA18507 nsv875616 2 190358705 190364859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507186 S 6533 0 1 PMS1 SP54490 nsv3080 2 190369899 190414760 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7592 S 9 0 1 PMS1 NA12156 nsv875617 2 190410114 190432386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507187 S 6533 0 1 PMS1 SP54490 nsv213327 2 190434734 190437628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231905 M 24 PMS1 nsv875618 2 190497632 190591605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568308 S 6533 0 1 "" IS31233 esv1004357 2 190710791 190710791 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567869 S 3 1 0 C2orf88 HuRef esv9098 2 190710802 190710888 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31539 S 1 1 0 C2orf88 SJK esv1262321 2 190710878 190710878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835221 S 2 1 0 C2orf88 HuRef nsv526659 2 190732206 190735378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702987 S 2026 0 1 C2orf88 esv2505341 2 190744157 190745655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223352 S 1 0 1 C2orf88 NA18507 nsv875619 2 190771196 190820486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499380 S 6533 1 0 C2orf88,HIBCH SP50084 esv2053772 2 190772176 190772636 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530852 S 1 0 1 C2orf88 NA18507 esv2558230 2 190773720 190774978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175330 S 1 0 1 C2orf88 NA18507 nsv875620 2 190808968 190849838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502989 S 6533 0 1 HIBCH SP51473 nsv875621 2 190825365 190885376 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500026 S 6533 1 0 HIBCH SP50084 esv2005944 2 190938680 190939151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595425 S 1 0 1 INPP1 NA18507 esv2131026 2 190938816 190939326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859760 S 1 0 1 INPP1 NA18507 nsv215297 2 190938834 190938834 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233875 M 24 INPP1 esv1676658 2 190956760 190957062 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726967 S 2 0 1 "" HuRef esv2318138 2 190992955 190993373 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889148 S 1 0 1 MFSD6 NA18507 esv1062211 2 191003835 191003835 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786492 S 2 1 0 MFSD6 HuRef esv33134 2 191027036 191073955 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100765,essv97139 M 51 2 0 MFSD6 21656,22075 nsv527324 2 191132234 191135981 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703749 S 2026 0 1 "" nsv834492 2 191147109 191354866 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442460 S 95 1 0 NAB1 nsv3081 2 191169323 191199654 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3041 S 9 1 0 "" NA18555 nsv508879 2 191179066 191195763 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623359 S 4 1 0 "" NA18994 nsv511091 2 191179066 191199376 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618640 S 4 0 0 "" CHM esv267719 2 191186923 191187008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516663,essv2517482,essv2514975 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11918,NA12812 nsv3082 2 191200484 191261039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11028,nssv3042 M 9 2 0 NAB1 NA15510,NA18555 nsv875622 2 191327069 191453634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499256 S 6533 1 0 "" SP50084 esv26229 2 191380909 191383403 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10826 S 451 1 0 "" NA12156 nsv436285 2 191382600 191389807 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465965 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv819819 2 191387227 191388653 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419258 S 2 0 1 "" AK1 esv2205304 2 191388840 191389322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836340 S 1 0 1 "" NA18507 esv3804 2 191388951 191389272 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26245 S 1 0 1 Single Asian sample YH "" YH esv988113 2 191389028 191389122 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575273 S 3 0 1 "" HuRef esv1299678 2 191389039 191389134 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359147 S 2 0 1 "" HuRef nsv213548 2 191389040 191389134 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232126 M 24 "" nsv3083 2 191453077 191487010 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7593 S 9 1 0 GLS NA12156 nsv819974 2 191478042 191478252 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419215 S 2 0 1 GLS AK1 nsv834493 2 191519618 191682485 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442461 S 95 1 0 GLS,STAT1,STAT4 esv2622574 2 191596890 191598415 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304895 S 1 0 1 "" NA18507 esv25901 2 191703504 191706931 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20634 S 451 0 3 STAT4 NA18517,NA19225,NA19257 nsv875623 2 191710783 191770114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500691 S 6533 1 0 STAT4 SP50084 esv1058530 2 191971211 191971211 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670968 S 2 1 0 MYO1B HuRef nsv3084 2 191979587 192010655 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1560 S 9 1 0 MYO1B NA19240 esv1020929 2 192026057 192026109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048643 S 2 0 1 "" HuRef nsv213895 2 192083440 192084820 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232473 M 24 "" esv2505157 2 192093249 192094806 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350882 S 1 0 1 "" NA18507 nsv875624 2 192099602 192136946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500570 S 6533 1 0 "" SP50084 nsv875625 2 192105436 192150674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553222 S 6533 0 1 "" MS19842 nsv875626 2 192168099 192205955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499615 S 6533 1 0 "" SP50084 nsv834494 2 192246947 192476635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442463 S 95 1 0 OBFC2A,SDPR dgv4404n71 2 192251394 192348869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875627,nsv875629,nsv875628 M 6533 0 4 OBFC2A IS36640,IS41889,MS21294,MS22146 esv2533325 2 192267244 192268746 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215211 S 1 0 1 "" NA18507 nsv511830 2 192267325 192270809 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626485 S 1 0 1 "" 1 esv2045326 2 192267469 192268169 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973992 S 1 0 1 "" NA18507 esv1987324 2 192270252 192270963 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711690 S 1 0 1 "" NA18507 esv1419162 2 192270450 192270785 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990338 S 2 0 1 "" HuRef nsv875630 2 192292451 192344408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555895,nssv1558373 M 6533 0 2 "" MS21706,MS23257 esv1058233 2 192315224 192315274 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752048 S 2 0 1 "" HuRef esv1611810 2 192315345 192315520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981870 S 2 0 1 "" HuRef esv21576 2 192321704 192322375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17614 S 451 0 2 "" NA19129,NA19147 nsv3085 2 192441191 192476476 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4490 S 9 1 0 "" NA12878 esv270421 2 192517252 192517610 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517264 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv274636 2 192548259 192548612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580347 S 7 1 0 Samples from several populations that are part of the HapMap project. TMEFF2 NA12891 esv268337 2 192548266 192548604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565642,essv2546470,essv2521191,essv2526078,essv2542412,essv2536452,essv2545309,essv2523139,essv2577481,essv2554191,essv2520312,essv2547296,essv2529142,essv2558469,essv2577849,essv2553632,essv2559586,essv2576369,essv2520251,essv2555056,essv2537658,essv2528521,essv2546965,essv2544836,essv2541430,essv2542823,essv2540264,essv2565011,essv2549584,essv2519607,essv2560112,essv2522135,essv2566332,essv2532505,essv2567886,essv2528939,essv2567535,essv2541867,essv2553174,essv2572500,essv2566651,essv2530109,essv2522627,essv2573669,essv2543180,essv2576953,essv2572119,essv2526762,essv2536017,essv2548759,essv2533007,essv2547669,essv2563315 M 157 53 0 Samples from several populations that are part of the HapMap project. TMEFF2 NA06986,NA07037,NA07051,NA07347,NA10847,NA11829,NA11881,NA11894,NA11918,NA11919,NA11920,NA12003,NA12004,NA12043,NA12287,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12814,NA12815,NA12872,NA12878,NA12891,NA12892,NA18526,NA18545,NA18550,NA18552,NA18558,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18605,NA18609,NA18948,NA18949,NA18960,NA18964,NA18965,NA18970,NA18973,NA19005 esv1367658 2 192548304 192548304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062215 S 2 1 0 TMEFF2 HuRef nsv834495 2 192588277 192756594 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442464 S 95 0 1 TMEFF2 esv272746 2 192623509 192629574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579333 S 7 1 0 Samples from several populations that are part of the HapMap project. TMEFF2 NA19239 esv1001512 2 192644181 192648966 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563498 S 3 0 1 TMEFF2 HuRef esv269596 2 192690902 192691258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517514,essv2515122 M 157 2 0 Samples from several populations that are part of the HapMap project. TMEFF2 NA11918,NA12812 esv1451304 2 192690942 192690942 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346224 S 2 1 0 TMEFF2 HuRef nsv437307 2 192697601 192710108 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467188 S 60 0 1 Samples from several populations that are part of the HapMap project. TMEFF2 NA19145 nsv511831 2 192743466 192747232 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626486 S 1 0 1 TMEFF2 1 nsv875631 2 192852286 192963605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555923 S 6533 0 1 "" MS21717 nsv459993 2 192937636 193027959 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536631 S 1557 1 0 "" 1780862381_A esv270953 2 192963893 192964197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505287 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 esv2601434 2 193062896 193064518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207451 S 1 0 1 "" NA18507 esv2121051 2 193063487 193064157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796818 S 1 0 1 "" NA18507 esv4006 2 193063613 193064060 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26447 S 1 0 1 Single Asian sample YH "" YH esv1667718 2 193063659 193063963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974257 S 2 0 1 "" HuRef esv7860 2 193063662 193063949 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30301 S 1 0 1 "" SJK esv270389 2 193106825 193107119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506185,essv2501005,essv2498885 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18856,NA19138 nsv875632 2 193148543 193202451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516980 S 6533 0 1 "" SP57013 nsv527665 2 193168479 193347787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704138 S 2026 0 1 PCGEM1 nsv821860 2 193200220 193200693 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425614 S 31 1 0 "" AK4 nsv821861 2 193262840 193267330 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423247,nssv1424641,nssv1436456 M 31 0 3 "" NA18542,NA18968,NA18999 nsv819149 2 193262865 193267360 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419641 S 2 0 1 "" AK1 nsv875633 2 193313488 193491228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517722 S 6533 0 1 PCGEM1 SP57367 nsv875634 2 193459761 193802443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546062 S 6533 0 1 "" MS17114 nsv875635 2 193526881 193605366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499285 S 6533 1 0 "" SP50084 nsv834496 2 193560332 193703377 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442465 S 95 0 1 "" esv2460410 2 193566042 193567545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283623 S 1 0 1 "" NA18507 nsv470504 2 193587160 193844067 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547276,nssv547277,nssv547275 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00577,HGDP00585,HGDP01302 nsv459994 2 193587161 193844067 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536632 S 1557 0 1 "" NINDS_206 nsv3086 2 193699662 193746107 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6891 S 9 0 1 "" NA12156 nsv875636 2 193725959 193796433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514650 S 6533 0 1 "" SP56042 esv28825 2 193727182 193728115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18694 S 451 0 2 "" NA18502,NA18508 nsv834497 2 193772760 194004968 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442466 S 95 0 1 "" esv271262 2 193813918 193814262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511852,essv2494369,essv2509852,essv2496289,essv2493645,essv2509029,essv2507046,essv2495524,essv2501360,essv2506662,essv2496981,essv2502115 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18502,NA18508,NA18511,NA18517,NA18522,NA18870,NA18916,NA19093,NA19108,NA19190,NA19257 esv2427499 2 193826214 193827731 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207313 S 1 0 1 "" NA18507 nsv875637 2 193844067 193922890 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500687 S 6533 1 0 "" SP50084 nsv875638 2 193850016 194061959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525662 S 6533 0 1 "" SP56758 nsv518284 2 193864048 194613887 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695716 S 2026 1 0 "" nsv821862 2 193873638 193874173 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430453 S 31 1 0 "" AK16 esv270282 2 193926690 193927244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500963,essv2498937 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA19138 nsv875639 2 193944841 194032732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500556 S 6533 1 0 "" SP50084 nsv3087 2 193986811 194020348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1561 S 9 1 0 "" NA19240 esv21590 2 193995534 193996541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15080 S 451 0 1 "" NA18861 nsv821863 2 194034049 194035395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436457 S 31 0 1 "" NA18542 nsv834498 2 194061202 194208105 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442467 S 95 0 1 "" esv2482516 2 194105988 194107573 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247405 S 1 0 1 "" NA18507 esv2193825 2 194106537 194107283 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702915 S 1 0 1 "" NA18507 esv2848 2 194106690 194107162 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25289 S 1 0 1 Single Asian sample YH "" YH esv2486229 2 194106749 194107088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305168 S 1 0 1 "" NA18507 nsv508123 2 194187310 194193310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623884 S 4 0 1 "" NA18994 esv268141 2 194192451 194192536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519451 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 esv1001668 2 194251455 194255230 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564691 S 3 1 0 "" HuRef esv268543 2 194270874 194271181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494974,essv2506169,essv2500924,essv2506650,essv2510945,essv2498782,essv2493886 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18520,NA18523,NA18856,NA19108,NA19116,NA19138,NA19210 esv270410 2 194274743 194275079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557830,essv2576050,essv2525967,essv2556706,essv2568425,essv2545390,essv2577240,essv2521553,essv2535003,essv2554078,essv2552070,essv2520582,essv2564422,essv2577777,essv2553814,essv2559590,essv2565525,essv2576322,essv2519977,essv2554842,essv2530823,essv2536845,essv2544808,essv2541227,essv2538393,essv2542960,essv2540644,essv2524540,essv2534556,essv2539672,essv2549380,essv2519605,essv2566060,essv2531147,essv2532819,essv2528675,essv2567612,essv2570242,essv2563801,essv2572241,essv2539463,essv2578216,essv2533723,essv2567112,essv2527682,essv2556021,essv2534395,essv2577096,essv2551459,essv2536346,essv2533125,essv2554637,essv2548036,essv2525202 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11918,NA11994,NA11995,NA12003,NA12043,NA12144,NA12249,NA12287,NA12489,NA12716,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12872,NA12873,NA18517,NA18526,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18579,NA18582,NA18593,NA18603,NA18609,NA18912,NA18940,NA18944,NA18947,NA18952,NA18956,NA18959,NA18970,NA19257 nsv875640 2 194275205 194585075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531579 S 6533 0 1 "" MS10549 esv268111 2 194275719 194276026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506026,essv2500929,essv2506642,essv2510854,essv2498836 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18856,NA19108,NA19116,NA19138 esv2422015 2 194289598 194306617 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5147420,essv5124414,essv5071315,essv5080118,essv5065767,essv5100125,essv5136360,essv5004967,essv5018187,essv5075312,essv5094697,essv5017288 M 1184 0 12 "" NA18101,NA18102,NA18129,NA18544,NA18573,NA18596,NA18605,NA18696,NA18740,NA18749,NA18993,NA19780 nsv441798 2 194295401 194306617 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv875641 2 194322259 194760559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582920 S 6533 0 1 "" IS36219 nsv511176 2 194363988 194423573 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626288 S 1 0 1 "" 1 esv2559823 2 194380794 194382930 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365538 S 1 0 1 "" NA18507 nsv508191 2 194382878 194391513 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618703 S 4 0 1 "" NA10860 nsv470506 2 194383627 194613887 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547278 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv3089 2 194385447 194420520 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2310,nssv4491,nssv6892,nssv5840,nssv1563 M 9 0 5 "" NA12156,NA12878,NA18555,NA19129,NA19240 esv990954 2 194396814 194407317 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565696 S 3 0 1 "" HuRef nsv436296 2 194397088 194407968 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465966 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv511832 2 194397527 194407632 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626487 S 1 0 1 "" 1 esv4365 2 194397687 194407134 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26806 S 1 0 1 Single Asian sample YH "" YH esv8925 2 194397745 194407025 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31366 S 1 0 1 "" SJK nsv498949 2 194397746 194407012 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585810 S 9 0 1 "" nsv215014 2 194397748 194407011 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233592 M 24 "" esv29635 2 194397800 194406029 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11965 S 451 17 0 "" NA07045,NA11894,NA12776,NA12828,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA19108,NA19114,NA19147,NA19225,NA19240,NA19257 nsv821586 2 194397800 194407027 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420283 S 1 0 1 "" NA10851 nsv821864 2 194397800 194407027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431181,nssv1426512,nssv1435754,nssv1434962,nssv1422481,nssv1431920,nssv1433533,nssv1423248,nssv1437326,nssv1425051,nssv1421569,nssv1429667,nssv1424068,nssv1438652,nssv1432702,nssv1438692,nssv1434288,nssv1424853,nssv1430454,nssv1440233,nssv1440629,nssv1427376,nssv1425615,nssv1428927 M 31 0 24 "" AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18973,NA18997,NA18999 esv996007 2 194398020 194403691 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586659 S 3 1 0 "" HuRef esv994368 2 194399055 194401270 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586967 S 3 1 0 "" HuRef nsv821866 2 194399055 194401270 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428136,nssv1440936,nssv1436458,nssv1438045,nssv1439564,nssv1424652 M 31 0 6 "" AK10,NA18537,NA18542,NA18951,NA18968,NA18969 nsv514112 2 194399248 194400496 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627308 S 1414 0 1 "" nsv875642 2 194423573 194629109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568778 S 6533 0 1 "" IS31338 dgv4405n71 2 194423573 194906989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875643,nsv875646,nsv875653,nsv875655 M 6533 0 4 "" IS30522,IS37999,IS40067,MS15199 dgv4406n71 2 194439607 194780139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875645,nsv875644,nsv875652 M 6533 0 4 "" IS31074,IS31179,IS33196,IS35181 dgv4407n71 2 194444273 194508307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875647,nsv875648,nsv875649 M 6533 0 3 "" SP54408,SP54490,SP54753 nsv470507 2 194452842 194613887 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547281,nssv547280 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226,HGDP01363 nsv875650 2 194459846 194502808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503544 S 6533 1 0 "" SP52077 dgv4408n71 2 194471999 194678939 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv875654,nsv875651 M 6533 3 2 "" IS30562,IS31067,IS31799,IS34748,IS41189 esv268144 2 194472009 194472441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496724,essv2507098 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18870 nsv821867 2 194519559 194521818 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431182 S 31 0 1 "" AK18 esv21479 2 194541869 194546749 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18070 S 451 0 1 "" NA19108 nsv875656 2 194548695 194678939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580595,nssv1569064 M 6533 0 2 "" IS31419,IS35388 dgv4409n71 2 194592569 194698667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875659,nsv875657,nsv875660 M 6533 0 12 "" IS30635,IS31205,IS32680,IS33867,IS34531,IS35261,IS36117,IS37546,IS39360,IS39464,IS39784,MS15312 nsv875658 2 194592569 195070559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584980 S 6533 0 1 "" IS37226 nsv508192 2 194595126 194629485 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617468 S 4 0 1 "" CHM esv2551059 2 194620293 194623787 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368332 S 1 0 1 "" NA18507 esv1699451 2 194621416 194621416 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679141 S 2 1 0 "" HuRef esv2393195 2 194622557 194622972 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552031 S 1 0 1 "" NA18507 esv1740952 2 194622726 194622794 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631734 S 2 0 1 "" HuRef dgv1282e1 2 194628082 194665120 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12044,essv13213,esv1184 M 271 0 0 "" NA19116,NA19120 esv1001909 2 194630173 194632693 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565368 S 3 1 0 "" HuRef esv2516672 2 194631246 194631378 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190001 S 1 1 0 "" NA18507 esv1524590 2 194631349 194631349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156458 S 2 1 0 "" HuRef nsv459996 2 194636419 194687403 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536634 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01358 nsv875661 2 194647100 194760559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574429 S 6533 0 1 "" IS33566 nsv516626 2 194678939 194687403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660487,nssv669644,nssv687815 M 2026 0 3 "" dgv4410n71 2 194698667 195081529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875662,nsv875664 M 6533 0 3 "" IS35911,MS11467,MS18620 nsv508124 2 194747713 194753713 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618559,nssv623885,nssv621537,nssv622013 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv875663 2 194780139 194906989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546063 S 6533 0 1 "" MS17114 dgv4411n71 2 194789122 194999918 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875666,nsv875665 M 6533 0 3 "" IS39944,MS22104,SP57367 dgv4412n71 2 194875287 195017393 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875668,nsv875667 M 6533 0 2 "" IS39011,MS12947 dgv484n27 2 194884458 195000115 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459997,nsv459998 M 1557 0 2 "" 1798860114_A,HGDP00144 nsv470509 2 194884458 195024254 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547283,nssv547284 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876,HGDP01223 nsv470508 2 194884458 195074329 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547282 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356 dgv4413n71 2 194915191 195081529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875671,nsv875673,nsv875669,nsv875676,nsv875672,nsv875675 M 6533 0 13 "" IS30899,IS31145,IS31330,IS31581,IS35127,IS35717,IS35726,IS39464,IS39666,IS41043,IS41204,MS11237,MS12071 nsv875670 2 194921911 194993870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514404 S 6533 0 1 "" SP56004 nsv875674 2 194921911 195111691 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562480 S 6533 0 1 "" MS25617 esv259474 2 194926795 194927075 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394228,essv2393875,essv2393827 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv259685 2 194926813 194927092 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401124,essv2399361,essv2399748,essv2397307,essv2401035,essv2396919,essv2395659,essv2397680,essv2396470,essv2398961,essv2394640,essv2397769,essv2396390,essv2397258 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12287,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18517,NA18603,NA18870,NA18956,NA19138,NA19225 esv1327407 2 194935279 194935279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829288 S 2 1 0 "" HuRef nsv516111 2 194953354 194955849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666256,nssv681894 M 2026 0 2 "" nsv460001 2 194955849 195008975 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536637 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00638 nsv460004 2 194955849 195074329 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536638 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01197 dgv234n21 2 194967976 195081529 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526272,nsv521844 M 2026 2 0 "" nsv875677 2 195000115 195085682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537362 S 6533 0 1 "" MS13169 nsv818106 2 195017393 195074329 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417589 S 112 1 0 "" NA18972 esv2421481 2 195022965 195034089 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5041722,essv5092065,essv5016005,essv5088769,essv5104532,essv5089275,essv5043368,essv5010573,essv5016080,essv5006214,essv5004938,essv5052800 M 1184 0 12 "" NA06993,NA18498,NA18924,NA19122,NA19128,NA19171,NA19377,NA19390,NA19403,NA19448,NA20276,NA21436 nsv441799 2 195022965 195034089 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514982 2 195022992 195032480 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628483 S 1414 0 0 "" esv1581850 2 195036608 195037565 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226911 S 2 0 1 "" HuRef esv1668169 2 195037683 195037683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334634 S 2 1 0 "" HuRef nsv875678 2 195056837 195105186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499606 S 6533 1 0 "" SP50084 nsv460011 2 195061131 195414969 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536640 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01338 esv2625071 2 195064078 195066730 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390242 S 1 0 1 "" NA18507 esv1557449 2 195065370 195065370 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756579 S 2 1 0 "" HuRef nsv3090 2 195116850 195133134 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9584 S 9 1 0 "" NA18507 nsv215319 2 195120572 195121208 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233897 M 24 "" esv267791 2 195146647 195146967 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496812,essv2504271,essv2509014 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18505,NA18522 esv2463795 2 195285869 195286982 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299075 S 1 1 0 "" NA18507 esv270776 2 195286500 195286839 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516742,essv2519278,essv2517438,essv2516042,essv2519058,essv2513883 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA12873,NA19141,NA19143 dgv485n27 2 195291681 195393999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460013,nsv460012 M 1557 0 2 "" 1780854293_A,HGDP00925 esv271641 2 195319928 195320218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520766,essv2557351,essv2557001,essv2561541,essv2543503,essv2572784 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18501,NA18523,NA18870,NA19143 nsv875679 2 195337056 195439174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499955 S 6533 1 0 "" SP50084 nsv834499 2 195345722 195504793 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442468 S 95 1 0 "" nsv517342 2 195386122 195399554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658556,nssv651779,nssv665013,nssv678671,nssv662884 M 2026 0 5 "" esv21481 2 195397371 195399902 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19014 S 451 0 1 "" NA18517 dgv4414n71 2 195399554 195540933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875682,nsv875680,nsv875681 M 6533 0 5 "" SP51065,SP53937,SP54434,SP58209,SP81461 esv1001590 2 195426982 195432027 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565322 S 3 1 0 "" HuRef esv2643300 2 195436948 195438230 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342427 S 1 0 1 "" NA18507 nsv834500 2 195523136 195712926 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442471,nssv1442470,nssv1442469,nssv1442474,nssv1442472,nssv1442476,nssv1442475 M 95 5 2 "" esv1481212 2 195550914 195551017 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991647 S 2 0 1 "" HuRef nsv214836 2 195550970 195551052 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233414 M 24 "" nsv214111 2 195551011 195551094 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232689 M 24 "" nsv875683 2 195581649 195666998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557757 S 6533 0 1 "" MS22858 nsv875684 2 195639537 196017520 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524009 S 6533 1 0 "" SP54796 esv273856 2 195664586 195664927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580113,essv2580500,essv2579876 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv875685 2 195676355 195695738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542565 S 6533 0 1 "" MS15788 nsv527035 2 195680123 195710859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703411 S 2026 0 1 "" nsv10210 2 195686316 195692994 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28584,nssv11667,nssv28300,nssv11631,nssv11714,nssv11532,nssv28235,nssv12383,nssv29055 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA10847,NA18502,NA18517,NA18537,NA18564,NA18853,NA18860,NA18972,NA19132 nsv436283 2 195687498 195692885 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465967 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv8298 2 195687617 195692689 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30739 S 1 0 0 "" SJK nsv819636 2 195687664 195692581 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419671 S 2 0 1 "" AK1 esv27007 2 195687880 195692616 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20043 S 451 0 16 "" NA06985,NA07045,NA12239,NA18502,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA19108,NA19114,NA19129,NA19225,NA19257 esv2421655 2 195688025 195690695 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5008571,essv5051904,essv5040147,essv5035945,essv5108122,essv5057847,essv5081954,essv5069039,essv5094407,essv5089019,essv5111351,essv5146346,essv5140915,essv5157853,essv5128948,essv5013667,essv5035904,essv5032757,essv5136528,essv5034739,essv5125253,essv5041958,essv5088819,essv5057220,essv5054504,essv5100385,essv5048077,essv5104453,essv5040112,essv5106532,essv5151302,essv5092868,essv5024344,essv5102959,essv5018736,essv5150355,essv5050334,essv5051129,essv5014925,essv5093650,essv5075894,essv5118507,essv5066286,essv5058943,essv5085089,essv5059404,essv5080251,essv5010740,essv5040594,essv5066156,essv5155950,essv5010911,essv5056951,essv5138799,essv5136170,essv5136006,essv5141205,essv5115356,essv5135180,essv5037658,essv5128768,essv5064877,essv5156498,essv5048701,essv5139287,essv5002094,essv5144105,essv5092072,essv5107905,essv5003665,essv5133678,essv5007683,essv5152892,essv5117040,essv5095726,essv5085329,essv5036214,essv5148776,essv5144749,essv5089827,essv5028730,essv5061504,essv5016262,essv5066380,essv5069476,essv5133432,essv5160017,essv5096021,essv5160105,essv5039361,essv5086097,essv5065492,essv5079801,essv5008988,essv5104541,essv5062609,essv5020422,essv5050292,essv5102987,essv5124124,essv5151580,essv5105262,essv5022037,essv5145477,essv5104163,essv5122334,essv5067112,essv5111682,essv5086054,essv5061009,essv5064486,essv5076840,essv5089618,essv5119646,essv5075380,essv5040389,essv5045542,essv5040816,essv5091207,essv5028453,essv5090154,essv5022885,essv5046497,essv5020254,essv5052110,essv5116648,essv5081890,essv5007243,essv5058660,essv5097899,essv5013315,essv5099224,essv5044171,essv5100173,essv5109587,essv5026729,essv5042415,essv5154006,essv5108362,essv5018189,essv5018981,essv5124931,essv5113249,essv5126999,essv5029096,essv5032961,essv5017508,essv5126757,essv5141403,essv5025815,essv5107601,essv5110930,essv5115335,essv5092593,essv5047978,essv5127882,essv5104793,essv5085357,essv5157314,essv5130275,essv5048819,essv5066538,essv5043839,essv5117615,essv5130483,essv5098891,essv5059593,essv5040357,essv5058740,essv5119466,essv5035397,essv5100910,essv5155040,essv5074561,essv5092139,essv5047398,essv5057349,essv5131001,essv5093104,essv5034652,essv5012053,essv5142484,essv5059574,essv5068703,essv5001978,essv5002507,essv5154788,essv5019768,essv5075055,essv5039524,essv5062451,essv5050257,essv5148466,essv5127655,essv5064804,essv5117356,essv5051298,essv5053687,essv5065177,essv5153122,essv5124534,essv5088155,essv5130122,essv5008878,essv5109844,essv5061073,essv5091398,essv5038483,essv5089892,essv5023180,essv5114270,essv5085160,essv5133585,essv5077116,essv5026913,essv5044381,essv5074228,essv5081533,essv5039232,essv5063076,essv5076364,essv5019198,essv5111904,essv5087489,essv5144694,essv5130809,essv5100607,essv5090358,essv5138066,essv5072353,essv5080043,essv5140597,essv5004216,essv5025924,essv5083999,essv5142722,essv5015942,essv5087511,essv5036431,essv5114400,essv5076873,essv5028293,essv5090940,essv5124062,essv5130302,essv5128432,essv5141365,essv5125149,essv5012316,essv5154834,essv5088707,essv5068730,essv5143755,essv5081415,essv5157217,essv5012772,essv5106488,essv5148530,essv5050727,essv5054064,essv5130587,essv5097738,essv5139309,essv5145990,essv5073401,essv5070869,essv5066218,essv5064718,essv5017229,essv5085363,essv5073731,essv5106601,essv5028938,essv5004640,essv5026110,essv5014229,essv5013363,essv5148001,essv5050311,essv5134192,essv5083155,essv5056126,essv5137802,essv5058645,essv5054779,essv5100843,essv5150294,essv5134737,essv5039327,essv5064377,essv5041751,essv5034348,essv5061478,essv5094117,essv5056740,essv5029178,essv5087045,essv5138671,essv5127423,essv5057830,essv5146831,essv5085086 M 1184 0 302 "" NA06985,NA06986,NA06997,NA07022,NA07045,NA10830,NA10847,NA10854,NA10865,NA11839,NA11891,NA11917,NA12154,NA12239,NA12273,NA12335,NA12340,NA12716,NA12817,NA12827,NA12842,NA17968,NA17980,NA17982,NA17983,NA18107,NA18112,NA18118,NA18124,NA18127,NA18128,NA18132,NA18140,NA18144,NA18152,NA18154,NA18498,NA18501,NA18503,NA18505,NA18506,NA18508,NA18509,NA18510,NA18511,NA18517,NA18519,NA18537,NA18542,NA18545,NA18546,NA18548,NA18561,NA18564,NA18566,NA18570,NA18573,NA18576,NA18592,NA18597,NA18614,NA18619,NA18628,NA18631,NA18637,NA18640,NA18642,NA18749,NA18852,NA18853,NA18854,NA18857,NA18858,NA18860,NA18861,NA18862,NA18863,NA18909,NA18912,NA18913,NA18914,NA18923,NA18924,NA18925,NA18933,NA18934,NA18935,NA18939,NA18960,NA18963,NA18972,NA18973,NA18979,NA18990,NA18993,NA18998,NA18999,NA19010,NA19031,NA19038,NA19055,NA19058,NA19059,NA19079,NA19088,NA19093,NA19094,NA19098,NA19101,NA19108,NA19109,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19122,NA19128,NA19129,NA19130,NA19132,NA19138,NA19139,NA19140,NA19142,NA19143,NA19150,NA19152,NA19154,NA19159,NA19161,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19189,NA19192,NA19193,NA19194,NA19198,NA19199,NA19200,NA19201,NA19202,NA19207,NA19208,NA19209,NA19211,NA19225,NA19235,NA19236,NA19237,NA19247,NA19249,NA19257,NA19308,NA19314,NA19315,NA19317,NA19328,NA19346,NA19352,NA19359,NA19374,NA19376,NA19381,NA19382,NA19383,NA19385,NA19390,NA19391,NA19396,NA19397,NA19399,NA19404,NA19429,NA19430,NA19431,NA19436,NA19437,NA19439,NA19440,NA19443,NA19446,NA19451,NA19455,NA19456,NA19457,NA19472,NA19473,NA19625,NA19657,NA19659,NA19660,NA19662,NA19663,NA19665,NA19669,NA19701,NA19708,NA19711,NA19718,NA19723,NA19749,NA19751,NA19776,NA19782,NA19819,NA19835,NA19901,NA19908,NA19915,NA19916,NA19982,NA19983,NA19985,NA20277,NA20287,NA20288,NA20290,NA20291,NA20292,NA20294,NA20295,NA20317,NA20319,NA20333,NA20334,NA20342,NA20345,NA20346,NA20347,NA20348,NA20356,NA20357,NA20358,NA20360,NA20364,NA20516,NA20543,NA20754,NA20799,NA20804,NA20847,NA20853,NA20856,NA20859,NA20861,NA20862,NA20870,NA20871,NA20872,NA20873,NA20885,NA20897,NA20902,NA20904,NA21092,NA21100,NA21102,NA21105,NA21109,NA21297,NA21303,NA21313,NA21320,NA21356,NA21362,NA21365,NA21385,NA21386,NA21399,NA21408,NA21420,NA21423,NA21434,NA21448,NA21454,NA21457,NA21479,NA21486,NA21494,NA21521,NA21522,NA21523,NA21528,NA21576,NA21582,NA21599,NA21601,NA21650,NA21683,NA21685,NA21689,NA21719,NA21826 nsv517099 2 195688025 195690695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674878,nssv687816,nssv681529,nssv672050,nssv669645,nssv670241,nssv668633,nssv654288,nssv686497,nssv659400,nssv669476,nssv681306,nssv659535,nssv679083,nssv682404,nssv674932,nssv683650,nssv676179,nssv684932,nssv661409,nssv690403,nssv653783,nssv690890,nssv661494,nssv667500,nssv661680 M 2026 0 26 "" dgv685n67 2 195688756 195692496 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821869,nsv821868,nsv821870 M 31 0 11 "" AK16,AK18,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18592,NA18973,NA18999 nsv438378 2 195689005 195690695 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471189,nssv471193,nssv471185,nssv471182,nssv471183,nssv471187,nssv471184,nssv471192,nssv471194,nssv471188,nssv471186,nssv471191 M 269 0 12 Samples from several populations that are part of the HapMap project. "" NA18542,NA18570,NA18853,NA18854,NA18858,NA18863,NA18914,NA19098,NA19140,NA19192,NA19202,NA19207 esv992933 2 195693413 195693413 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582882 S 3 1 0 "" HuRef nsv875686 2 195722508 195768684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499583 S 6533 1 0 "" SP50084 esv268522 2 195725807 195726046 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540768,essv2542378,essv2577396,essv2577748,essv2575136,essv2536217 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11831,NA11919,NA12043,NA12761,NA19102 esv2638190 2 195738784 195740265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270224 S 1 0 1 "" NA18507 esv2157831 2 195739358 195740058 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810594 S 1 0 1 "" NA18507 esv3343 2 195739502 195739994 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25784 S 1 0 1 Single Asian sample YH "" YH esv8904 2 195739564 195739864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31345 S 1 0 1 "" SJK nsv3091 2 195740612 195786795 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6893 S 9 0 1 "" NA12156 esv2654469 2 195759399 195760943 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319060 S 1 0 1 "" NA18507 esv2103005 2 195759886 195760541 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756425 S 1 0 1 "" NA18507 esv3618 2 195760040 195760515 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26059 S 1 0 1 Single Asian sample YH "" YH esv1011165 2 195760064 195760333 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571745 S 3 0 1 "" HuRef esv267854 2 195781309 195781678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504022 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv271742 2 195783750 195784091 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514016 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv3092 2 195788074 195823287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1564 S 9 1 0 "" NA19240 esv28237 2 195871405 195872565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15979 S 451 0 3 "" NA18907,NA19099,NA19225 nsv523822 2 195876997 195880570 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699653 S 2026 0 1 "" nsv522188 2 195878811 195880570 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694962 S 2026 0 1 "" dgv95e180 2 195880471 195882368 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997847,esv993265 M 3 0 1 "" HuRef esv1009022 2 195880480 195882458 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565821 S 3 0 1 "" HuRef esv27563 2 195880637 195882338 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19759 S 451 0 1 "" NA19114 esv1241313 2 195887668 195887668 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315507 S 2 1 0 "" HuRef esv1104274 2 195887713 195887788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345242 S 2 0 1 "" HuRef esv1004998 2 195922788 195923944 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564743 S 3 0 1 "" HuRef esv997849 2 195923061 195923472 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573695 S 3 0 1 "" HuRef esv1077789 2 195923061 195923473 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748788 S 2 0 1 "" HuRef esv6350 2 195923062 195923469 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28791 S 1 0 1 "" SJK nsv875687 2 195955459 196012902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499526 S 6533 1 0 "" SP50084 nsv3093 2 195968770 196000881 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10257 S 9 1 0 "" NA18956 nsv215412 2 196024484 196031412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233990 M 24 "" nsv834501 2 196181472 196351168 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442477 S 95 1 0 DNAH7,SLC39A10 nsv515614 2 196197516 196244750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666345,nssv664107,nssv662080 M 2026 0 3 SLC39A10 nsv834503 2 196223467 196245642 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442478 S 95 0 1 SLC39A10 nsv820131 2 196236451 196240375 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419589 S 2 0 1 SLC39A10 AK1 nsv875688 2 196255650 196293557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513917 S 6533 0 1 SLC39A10 SP55878 nsv3094 2 196270540 196315378 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7594 S 9 0 1 DNAH7,SLC39A10 NA12156 nsv820276 2 196389503 196393299 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419578 S 2 0 1 DNAH7 AK1 nsv819804 2 196431733 196432598 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419105 S 2 0 1 DNAH7 AK1 nsv875689 2 196436596 196474754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508742 S 6533 0 1 DNAH7 SP54579 esv2489659 2 196443970 196445480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351883 S 1 0 1 DNAH7 NA18507 esv2215403 2 196444471 196445135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749403 S 1 0 1 DNAH7 NA18507 esv3418 2 196444612 196444995 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25859 S 1 0 1 Single Asian sample YH DNAH7 YH nsv214751 2 196444673 196444951 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233329 M 24 DNAH7 nsv875690 2 196449571 196508336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513918 S 6533 0 1 DNAH7 SP55878 esv2580785 2 196455216 196456604 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267008 S 1 0 1 DNAH7 NA18507 esv269501 2 196460075 196460204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509119,essv2507183,essv2497709,essv2496957 M 157 4 0 Samples from several populations that are part of the HapMap project. DNAH7 NA18522,NA18870,NA19147,NA19190 nsv875691 2 196474754 196727973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557778 S 6533 1 0 DNAH7,STK17B MS22858 esv2233474 2 196530387 196530770 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931076 S 1 0 1 DNAH7 NA18507 nsv875692 2 196632892 196769397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584017 S 6533 0 1 DNAH7,STK17B IS36787 nsv875693 2 196741807 196797281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541503 S 6533 0 1 HECW2,STK17B MS15341 nsv3095 2 196898440 196937224 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10258,nssv4492 M 9 2 0 HECW2 NA12878,NA18956 nsv507058 2 196967910 196973910 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621678,nssv622833,nssv620742 M 4 3 0 HECW2 NA10860,NA15510,NA18994 nsv834504 2 196976614 197126707 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442479 S 95 0 1 HECW2 esv269040 2 197053415 197058466 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516083 S 157 1 0 Samples from several populations that are part of the HapMap project. HECW2 NA12873 nsv3096 2 197197555 197253030 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5841,nssv3044 M 9 2 0 CCDC150 NA18555,NA19129 esv992569 2 197294335 197294335 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577329 S 3 1 0 CCDC150 HuRef esv1075947 2 197294336 197294336 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595358 S 2 1 0 CCDC150 HuRef dgv4415n71 2 197397027 197456205 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875694,nsv875695 M 6533 0 2 PGAP1 SP55694,SP56004 nsv875696 2 197406627 197499923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500297 S 6533 0 1 PGAP1 SP50649 nsv834505 2 197509767 197681891 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442480 S 95 0 1 ANKRD44 nsv526549 2 197571092 197571148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702863 S 2026 0 1 ANKRD44 esv23521 2 197783604 197784124 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14901 S 451 1 0 ANKRD44 NA12749 nsv215425 2 197791747 197792039 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234003 M 24 ANKRD44 esv22536 2 197850200 197851312 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16278 S 451 0 1 ANKRD44 NA18861 nsv460015 2 197857012 197940884 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536643 S 1557 1 0 ANKRD44 1780854205_A nsv3097 2 197921904 197953430 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10259 S 9 1 0 "" NA18956 nsv875697 2 198098570 198142564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513919 S 6533 0 1 HSPE1-PHOCN,PHOCN SP55878 nsv3098 2 198220959 198253508 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10260 S 9 1 0 RFTN2 NA18956 esv1484663 2 198269196 198269245 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164962 S 2 0 1 "" HuRef nsv821871 2 198280863 198281369 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421570 S 31 1 0 MARS2 NA18997 nsv834506 2 198296379 198454397 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442481 S 95 1 0 BOLL,PLCL1 nsv516368 2 198308975 198313759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667794,nssv663042 M 2026 0 2 BOLL nsv875698 2 198313759 198415161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542445 S 6533 1 0 BOLL,PLCL1 MS15782 nsv460016 2 198339959 198421476 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536644 S 1557 1 0 BOLL,PLCL1 NINDS_118 esv2632650 2 198438353 198439815 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383040 S 1 0 1 PLCL1 NA18507 esv2572769 2 198471016 198472035 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347494 S 1 1 0 PLCL1 NA18507 esv268161 2 198471673 198471982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557984,essv2565794,essv2576066,essv2571677,essv2546576,essv2542329,essv2536689,essv2522677,essv2544078,essv2570924,essv2545604,essv2523453,essv2531844,essv2577599,essv2521544,essv2525484,essv2534979,essv2554202,essv2552098,essv2520516,essv2547369,essv2529147,essv2558540,essv2577824,essv2553612,essv2559637,essv2565550,essv2576417,essv2520113,essv2555117,essv2530679,essv2537324,essv2528569,essv2546691,essv2540052,essv2520908,essv2557337,essv2556897,essv2552403,essv2532373,essv2562683,essv2578774,essv2550120,essv2558873,essv2536904,essv2539185,essv2569801,essv2527219,essv2561316,essv2562901,essv2552989,essv2541419,essv2524500,essv2549161,essv2566141,essv2531136,essv2532609,essv2541551,essv2553115,essv2572453,essv2558991,essv2566986,essv2550979,essv2569077,essv2543477,essv2556455,essv2527930,essv2562526,essv2539331,essv2533874,essv2578480,essv2533752,essv2555665,essv2566340,essv2530168,essv2555801,essv2531520,essv2543196,essv2577115,essv2525730,essv2529464,essv2575492,essv2538513,essv2526365,essv2560526,essv2524142,essv2574619,essv2572882,essv2568574,essv2545004,essv2560195,essv2548107,essv2549935,essv2571435,essv2574401,essv2551631,essv2536294,essv2549065,essv2533144,essv2554419,essv2547936,essv2524809,essv2563244 M 157 103 0 Samples from several populations that are part of the HapMap project. PLCL1 NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12144,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18532,NA18542,NA18545,NA18555,NA18564,NA18572,NA18573,NA18576,NA18592,NA18605,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18945,NA18948,NA18949,NA18956,NA18961,NA18965,NA18970,NA18980,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19240,NA19257 esv272349 2 198471678 198471983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581643,essv2582723,essv2582938,essv2584343,essv2583328 M 7 5 0 Samples from several populations that are part of the HapMap project. PLCL1 NA12878,NA12891,NA12892,NA19238,NA19240 esv1252338 2 198495845 198495845 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091046 S 2 1 0 PLCL1 HuRef esv1623532 2 198495919 198495919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785670 S 2 1 0 PLCL1 HuRef nsv507059 2 198503881 198509881 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621679,nssv617578 M 4 2 0 PLCL1 CHM,NA10860 nsv3100 2 198513109 198545580 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6894 S 9 1 0 PLCL1 NA12156 nsv834507 2 198568177 198759383 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442482,nssv1442483 M 95 2 0 PLCL1 esv2008876 2 198635945 198636330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689134 S 1 0 1 PLCL1 NA18507 esv988447 2 198651814 198659501 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565585 S 3 0 1 PLCL1 HuRef nsv3101 2 198652333 198697630 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7595 S 9 0 1 PLCL1 NA12156 esv2576992 2 198664942 198665136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357627 S 1 0 1 PLCL1 NA18507 nsv834508 2 198763440 198941849 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442485 S 95 0 1 "" esv21832 2 198776203 198779601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10862 S 451 0 1 "" NA19114 nsv3102 2 198844024 198878532 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3045 S 9 1 0 "" NA18555 esv1551746 2 198995774 198995774 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354287 S 2 1 0 "" HuRef nsv834509 2 199133449 199282002 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442486 S 95 1 0 "" esv2530193 2 199133822 199134875 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362859 S 1 1 0 "" NA18507 esv271355 2 199134486 199134571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513989 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv268424 2 199162899 199163759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501295,essv2497609,essv2502276 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19147,NA19257 nsv3103 2 199226860 199271736 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7596 S 9 0 1 "" NA12156 nsv875699 2 199291590 199837896 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500401 S 6533 1 0 "" SP50649 nsv875700 2 199397425 199462912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500456 S 6533 1 0 "" SP50084 esv1670031 2 199422228 199422228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207278 S 2 1 0 "" HuRef esv1700181 2 199422592 199422648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829287 S 2 0 1 "" HuRef nsv508125 2 199466912 199472912 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623886,nssv621538,nssv618560,nssv622015 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv821872 2 199472440 199472917 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431185 S 31 0 1 "" AK18 esv271465 2 199488130 199494193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556809,essv2548229,essv2576513,essv2550636,essv2564373,essv2553667,essv2549135,essv2554438 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11994,NA12045,NA12154,NA12155,NA12751,NA12763,NA18564 nsv821873 2 199502124 199502867 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440235 S 31 0 1 "" NA18564 esv271703 2 199502602 199503522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493193,essv2513258 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18907 nsv875701 2 199695642 199800550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499759 S 6533 1 0 "" SP50084 esv268173 2 199696551 199696814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520899,essv2552530,essv2527181,essv2568995,essv2543484,essv2556447,essv2538710,essv2560537,essv2524299,essv2572788,essv2549863 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18522,NA18861,NA18870,NA18871,NA19108,NA19116,NA19129,NA19143,NA19225 nsv507060 2 199773216 199779216 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621680,nssv620743 M 4 2 0 "" NA10860,NA15510 nsv3104 2 199837470 199872803 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1565 S 9 1 0 SATB2 NA19240 esv27345 2 199886668 199891800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11714 S 451 0 2 SATB2 NA18502,NA18517 nsv441800 2 199887215 199890802 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SATB2 nsv514113 2 199887264 199890816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627319 S 1414 0 1 SATB2 esv993308 2 199915672 199918388 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564504 S 3 0 1 SATB2 HuRef esv2572304 2 200020164 200021705 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354165 S 1 0 1 SATB2 NA18507 esv2110977 2 200020512 200021104 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907912 S 1 0 1 SATB2 NA18507 esv4682 2 200020667 200021086 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27123 S 1 0 1 Single Asian sample YH SATB2 YH esv7603 2 200020684 200020938 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30044 S 1 0 1 SATB2 SJK esv1009594 2 200020700 200020923 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568400 S 3 0 1 SATB2 HuRef nsv213912 2 200020701 200020924 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232490 M 24 SATB2 nsv875702 2 200035120 200217064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499877 S 6533 1 0 FLJ32063,SATB2 SP50649 nsv3105 2 200048764 200080472 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10261 S 9 1 0 "" NA18956 nsv875703 2 200143325 200312090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500094 S 6533 1 0 "" SP50084 esv2766 2 200238588 200238789 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25207 S 1 0 1 Single Asian sample YH "" YH nsv875704 2 200323741 200592346 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499756 S 6533 1 0 C2orf47,C2orf69,FONG,TYW5 SP50649 nsv875705 2 200356531 200392949 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499520 S 6533 1 0 FONG SP50084 nsv834510 2 200425687 200625762 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442487,nssv1442488 M 95 0 2 C2orf47,C2orf69,TYW5 nsv3106 2 200554477 200574253 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7597 S 9 0 1 "" NA12156 nsv508194 2 200612647 200690174 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618704 S 4 0 1 "" NA10860 nsv460018 2 200692154 200726666 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536646 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01163 esv1296713 2 200780139 200780271 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984148 S 2 0 1 "" HuRef nsv3107 2 200843626 200888953 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7598 S 9 0 1 SPATS2L NA12156 nsv875706 2 200854219 200953517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500662 S 6533 1 0 SPATS2L SP50084 esv268686 2 200897888 200897973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517893 S 157 1 0 Samples from several populations that are part of the HapMap project. SPATS2L NA12872 nsv507061 2 200900408 200906408 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621681,nssv622834,nssv620744 M 4 3 0 SPATS2L NA10860,NA15510,NA18994 esv1009509 2 200903181 200903181 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582115 S 3 1 0 SPATS2L HuRef nsv213509 2 200903183 200903183 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232087 M 24 SPATS2L nsv3108 2 200919302 200963978 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7599 S 9 0 1 SPATS2L NA12156 esv269068 2 200950341 200950426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515362 S 157 1 0 Samples from several populations that are part of the HapMap project. SPATS2L NA12249 nsv819248 2 200961376 200962254 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419106 S 2 1 0 SPATS2L AK1 nsv517769 2 200998781 201008399 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696314,nssv684118,nssv668177,nssv690866,nssv665927,nssv678686,nssv681433,nssv685067,nssv689540,nssv675874,nssv653173,nssv684647,nssv705722,nssv690852 M 2026 1 13 SPATS2L nsv875707 2 201007707 201022519 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499106 S 6533 1 0 SPATS2L SP50084 esv1579661 2 201257717 201257771 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057118 S 2 0 1 "" HuRef esv271235 2 201287166 201287514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505984,essv2498300,essv2500405,essv2503329,essv2497160,essv2499992,essv2500137,essv2498638,essv2503531,essv2505392,essv2504689,essv2510861 M 157 12 0 Samples from several populations that are part of the HapMap project. AOX2P,LOC100507140 NA18523,NA18526,NA18537,NA18542,NA18552,NA18558,NA18573,NA18858,NA18947,NA18952,NA19099,NA19116 nsv512785 2 201346256 201346501 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625417 S 1 1 0 AOX2P 1 esv1926121 2 201399455 201399880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4871947 S 1 0 1 "" NA18507 esv2832 2 201399566 201399763 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25273 S 1 0 1 Single Asian sample YH "" YH esv1070703 2 201399600 201399693 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908016 S 2 0 1 "" HuRef nsv3109 2 201469838 201515454 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6895 S 9 0 1 NIF3L1,ORC2 NA12156 nsv821874 2 201773568 201783563 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428928 S 31 0 1 CASP10 AK12 nsv435730 2 201847282 201853689 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465968 S 2 0 1 CASP8 NA15510 esv2573574 2 201854510 201858493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251650 S 1 0 1 CASP8 NA18507 esv1004879 2 201854803 201861497 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564666 S 3 0 1 ALS2CR12,CASP8 HuRef esv1009106 2 201854897 201857688 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574372 S 3 0 1 CASP8 HuRef esv1122953 2 201854903 201857695 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019034 S 2 0 1 CASP8 HuRef nsv507062 2 201872238 201878238 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622835 S 4 1 0 ALS2CR12 NA18994 nsv875708 2 201882057 201960784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500259 S 6533 1 0 ALS2CR12,TRAK2 SP50084 esv272558 2 201958164 201958552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580655,essv2579017 M 7 2 0 Samples from several populations that are part of the HapMap project. TRAK2 NA19238,NA19239 esv267788 2 201958216 201958500 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510265,essv2511038,essv2496686,essv2502294,essv2501705,essv2505525,essv2495367,essv2495862,essv2500288,essv2502806,essv2496586,essv2510522,essv2494143,essv2503053,essv2506149,essv2508309,essv2498509,essv2507360,essv2495704,essv2503147,essv2503512,essv2502383,essv2493144,essv2500512,essv2502632,essv2501350,essv2506610,essv2497641,essv2501727,essv2502252,essv2504336,essv2499574 M 157 32 0 Samples from several populations that are part of the HapMap project. TRAK2 NA07347,NA07357,NA10851,NA11831,NA11894,NA12004,NA12144,NA12154,NA12287,NA12489,NA12891,NA12892,NA18486,NA18501,NA18502,NA18507,NA18523,NA18561,NA18858,NA18912,NA18916,NA18943,NA18947,NA18948,NA18951,NA18956,NA18965,NA19093,NA19108,NA19147,NA19239,NA19257 esv28629 2 201987796 201988493 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18286 S 451 0 1 TRAK2 NA07045 esv1007085 2 201987901 201987901 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566393 S 3 1 0 TRAK2 HuRef nsv3111 2 202031839 202066149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4493 S 9 1 0 ALS2CR11,STRADB NA12878 esv24012 2 202081864 202083495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12020 S 451 0 3 ALS2CR11 NA18858,NA19129,NA19190 nsv507063 2 202101177 202107177 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621682,nssv622836,nssv620745,nssv617579 M 4 4 0 ALS2CR11 CHM,NA10860,NA15510,NA18994 nsv875709 2 202215522 202237759 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499260 S 6533 1 0 MPP4,TMEM237 SP50084 esv2370658 2 202258044 202258433 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749536 S 1 0 1 MPP4 NA18507 nsv214937 2 202258177 202258245 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233515 M 24 MPP4 esv1003773 2 202258189 202258257 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581292 S 3 0 1 MPP4 HuRef esv1285681 2 202258219 202258288 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687740 S 2 0 1 MPP4 HuRef nsv524548 2 202269816 202390474 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700499 S 2026 1 0 ALS2,CDK15,MPP4 nsv875710 2 202295511 202435281 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499621 S 6533 1 0 ALS2,CDK15 SP50084 esv1240932 2 202339705 202339705 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857739 S 2 1 0 ALS2 HuRef esv269995 2 202350206 202350471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509923,essv2507209,essv2501289,essv2504840,essv2493553,essv2499691,essv2501801,essv2502191 M 157 8 0 Samples from several populations that are part of the HapMap project. ALS2 NA18508,NA18870,NA19093,NA19099,NA19137,NA19225,NA19239,NA19257 esv273927 2 202350208 202350384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579166,essv2579557 M 7 2 0 Samples from several populations that are part of the HapMap project. ALS2 NA19239,NA19240 nsv834511 2 202350308 202537432 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442489 S 95 0 1 ALS2,CDK15 nsv527313 2 202407446 202440273 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703737 S 2026 0 1 CDK15 esv2616659 2 202429287 202430710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187273 S 1 0 1 CDK15 NA18507 esv2033442 2 202429705 202430408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832110 S 1 0 1 CDK15 NA18507 esv2767 2 202429835 202430374 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25208 S 1 0 1 Single Asian sample YH CDK15 YH nsv215499 2 202429894 202430214 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234077 M 24 CDK15 esv996523 2 202429896 202430216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580035 S 3 0 1 CDK15 HuRef esv9186 2 202429897 202430213 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31627 S 1 0 1 CDK15 SJK esv2585128 2 202429908 202430228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241532 S 1 0 1 CDK15 NA18507 esv1175048 2 202429909 202430230 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691167 S 2 0 1 CDK15 HuRef esv993740 2 202438657 202447998 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563801 S 3 0 1 CDK15 HuRef esv1004233 2 202438827 202439714 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586966 S 3 0 1 CDK15 HuRef esv1007353 2 202438906 202440709 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586285 S 3 0 1 CDK15 HuRef esv22656 2 202438924 202440709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12805 S 451 0 1 CDK15 NA12749 esv992519 2 202448059 202451056 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586745 S 3 1 0 CDK15 HuRef esv23406 2 202448059 202451707 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14143 S 451 1 0 CDK15 NA12749 nsv525978 2 202501765 202514883 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702197 S 2026 0 1 "" esv1961437 2 202532138 202532565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856414 S 1 0 1 "" NA18507 esv29879 2 202606333 202608673 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21009 S 451 0 1 FZD7 NA12156 nsv821875 2 202637684 202640003 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424855 S 31 0 1 "" AK2 nsv834512 2 202673686 202836206 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442490 S 95 0 1 SUMO1 nsv525156 2 202682605 202689266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701228 S 2026 0 1 "" nsv3112 2 202695381 202728184 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1566 S 9 1 0 "" NA19240 esv2559685 2 202744105 202744168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174016 S 1 0 1 "" NA18507 nsv214163 2 202775915 202779024 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232741 M 24 "" esv2491134 2 202803509 202805063 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280689 S 1 0 1 SUMO1 NA18507 nsv875711 2 202840182 203078111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595912 S 6533 0 1 BMPR2,NOP58,SNORD11,SNORD11B,SNORD70 IS40368 esv275144 2 202902419 202911203 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586064 S 1250 0 1 "" nsv875712 2 202954656 203078111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579151 S 6533 0 1 BMPR2 IS35027 nsv471519 2 202991740 203020329 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547912,nssv547900 M 3 BMPR2 nsv3113 2 202992448 203030002 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9585 S 9 0 1 BMPR2 NA18507 dgv65n17 2 202999027 203023857 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437310,nsv437308,nsv437312,nsv437311,nsv437309 M 60 0 5 BMPR2 NA18503,NA19202,NA19205,NA19208,NA19221 nsv433209 2 203002032 203020242 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463090 S 9 0 1 Samples from several populations that are part of the HapMap project. BMPR2 NA18507 esv2641233 2 203003257 203022380 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238507 S 1 0 1 BMPR2 NA18507 esv2556143 2 203003472 203022470 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292457 S 1 0 1 BMPR2 NA18507 nsv10211 2 203003540 203021761 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12270,nssv11562,nssv11519 M 31 0 3 Samples from several populations that are part of the HapMap project. BMPR2 NA18502,NA19173,NA19221 esv23010 2 203003579 203021091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13191 S 451 0 5 BMPR2 NA18502,NA18508,NA18861,NA18909,NA19114 nsv498950 2 203003670 203021180 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585811 S 9 0 1 BMPR2 esv2421826 2 203004020 203020446 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150329,essv5137034,essv5055113,essv5140100,essv5083542,essv5094431,essv5019618,essv5119205,essv5079411,essv5090659,essv5053530,essv5127156,essv5056410,essv5114737,essv5132954,essv5120958,essv5105488,essv5026973,essv5135715,essv5155150,essv5160885,essv5087408,essv5041839,essv5053845,essv5155627,essv5066673,essv5137464,essv5003342,essv5025473,essv5030343,essv5014138,essv5129255,essv5098211,essv5125200,essv5156135,essv5129593,essv5133872,essv5064564,essv5114747,essv5064474,essv5157336,essv5143426,essv5109454,essv5062728,essv5047456,essv5028155,essv5077969,essv5035413,essv5099084,essv5074189,essv5024727,essv5063009,essv5014083,essv5048579,essv5160523,essv5003745,essv5019056,essv5064721,essv5079409,essv5129929,essv5013781,essv5160580,essv5117807,essv5126795,essv5128048,essv5012457,essv5024897,essv5033781,essv5073112,essv5002404,essv5106201,essv5138915,essv5075961,essv5064809,essv5143537,essv5125548,essv5151761,essv5024766,essv5124189,essv5033537,essv5054241,essv5056916,essv5138638,essv5018721,essv5031653,essv5004417,essv5102713,essv5103426,essv5053589,essv5088166,essv5091726,essv5039840,essv5084845,essv5123577,essv5026989,essv5113728,essv5148238,essv5032647,essv5039272,essv5109973,essv5005016,essv5072280,essv5013990,essv5098342,essv5149123,essv5008762,essv5130408,essv5124184,essv5054702,essv5159700,essv5142991,essv5109123,essv5139802,essv5157756,essv5052780,essv5047047,essv5108201,essv5043756,essv5127395,essv5014179,essv5059104,essv5024707,essv5056647,essv5096621,essv5002019,essv5088161,essv5051214,essv5105236,essv5034523,essv5023203,essv5106531,essv5055223,essv5133720,essv5061496 M 1184 0 134 BMPR2 NA18484,NA18485,NA18487,NA18488,NA18497,NA18498,NA18503,NA18505,NA18506,NA18507,NA18508,NA18509,NA18518,NA18519,NA18520,NA18852,NA18854,NA18855,NA18857,NA18859,NA18861,NA18863,NA18867,NA18868,NA18869,NA18909,NA18934,NA18935,NA19028,NA19035,NA19036,NA19038,NA19093,NA19095,NA19096,NA19098,NA19107,NA19109,NA19113,NA19114,NA19115,NA19117,NA19118,NA19121,NA19122,NA19123,NA19131,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19172,NA19173,NA19174,NA19175,NA19184,NA19185,NA19186,NA19197,NA19199,NA19201,NA19202,NA19203,NA19204,NA19206,NA19208,NA19210,NA19213,NA19221,NA19223,NA19224,NA19226,NA19238,NA19239,NA19321,NA19360,NA19379,NA19390,NA19391,NA19394,NA19437,NA19440,NA19443,NA19446,NA19452,NA19462,NA19463,NA19469,NA19470,NA19649,NA19650,NA19704,NA19708,NA19711,NA19909,NA19917,NA19921,NA20126,NA20127,NA20128,NA20129,NA20289,NA20290,NA20294,NA20332,NA20333,NA20341,NA20343,NA20357,NA20358,NA20360,NA21297,NA21333,NA21365,NA21382,NA21384,NA21386,NA21387,NA21391,NA21475,NA21478,NA21485,NA21488,NA21490,NA21494,NA21522,NA21529,NA21599,NA21601,NA21678,NA21689,NA21733 nsv442845 2 203004020 203020446 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BMPR2 nsv517288 2 203004035 203017311 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658878,nssv691422,nssv666785,nssv675903,nssv676217,nssv689399,nssv679084,nssv680485,nssv679590,nssv659987,nssv684648,nssv685459,nssv668047,nssv672865,nssv662928,nssv661443,nssv682062,nssv686182,nssv660306,nssv667151,nssv689799,nssv667824,nssv665628,nssv669659,nssv668178,nssv662531,nssv666395,nssv684933,nssv680773,nssv686953,nssv686204,nssv659717,nssv685559,nssv653030,nssv665415,nssv665802,nssv684996,nssv654210,nssv652625,nssv688911,nssv659200,nssv661681,nssv679643,nssv663216,nssv675936 M 2026 0 45 BMPR2 nsv514114 2 203004144 203020352 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627330 S 1414 0 1 BMPR2 nsv438379 2 203005313 203017311 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471199,nssv471196,nssv471209,nssv471208,nssv471205,nssv471203,nssv471206,nssv471198,nssv471207,nssv471204,nssv471200,nssv471210,nssv471195,nssv471197 M 269 0 14 Samples from several populations that are part of the HapMap project. BMPR2 NA18503,NA18505,NA18506,NA18507,NA19172,NA19173,NA19201,NA19202,NA19203,NA19205,NA19206,NA19208,NA19221,NA19223 nsv875713 2 203009015 203032082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515597 S 6533 0 1 BMPR2 SP56224 nsv875714 2 203104462 203162033 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516542 S 6533 1 0 BMPR2 SP56856 esv2635288 2 203117570 203118799 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242828 S 1 1 0 BMPR2 NA18507 nsv507064 2 203241172 203247172 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621683,nssv622837,nssv617580 M 4 3 0 FAM117B CHM,NA10860,NA18994 nsv460019 2 203249995 203343850 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536647 S 1557 1 0 FAM117B NINDS_16 nsv3114 2 203292555 203326684 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3046 S 9 1 0 FAM117B NA18555 nsv460020 2 203314999 203416552 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536648 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM117B,ICA1L HGDP00912 nsv470510 2 203314999 203416552 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547285 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM117B,ICA1L HGDP00912 esv2579724 2 203341266 203342591 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227292 S 1 0 1 FAM117B NA18507 nsv875715 2 203416552 203716679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597957 S 6533 0 1 ALS2CR8,ICA1L,NBEAL1,WDR12 IS41317 nsv875716 2 203512004 203553546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513074 S 6533 0 1 ALS2CR8 SP55683 nsv875717 2 203547365 203575740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508792 S 6533 0 1 ALS2CR8 SP54587 nsv214438 2 203553631 203559836 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233016 M 24 ALS2CR8 nsv213597 2 203559840 203559840 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232175 M 24 "" esv32794 2 203607017 203610295 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93869,essv100721,essv98145,essv94326,essv95499,essv92965,essv96679,essv97671,essv100518,essv94249 M 51 0 10 NBEAL1 21634,21656,21772,21808,21847,21939,22011,22278,22298,22394 nsv819067 2 203607020 203612172 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419685 S 2 1 0 NBEAL1 AK1 nsv820773 2 203607102 203612633 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420284 S 1 0 1 NBEAL1 NA10851 nsv821877 2 203607529 203610510 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428137,nssv1433534,nssv1434965,nssv1438694,nssv1434290 M 31 5 0 NBEAL1 AK10,NA18526,NA18570,NA18942,NA18973 nsv821878 2 203607529 203611817 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426513 S 31 1 0 NBEAL1 AK6 esv27147 2 203607766 203612122 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15505 S 451 32 0 NBEAL1 NA06985,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2421527 2 203608045 203610291 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5122685,essv5035697,essv5062258,essv5141578,essv5058409,essv5084156,essv5012472,essv5154425,essv5067671,essv5101206,essv5004189,essv5099750,essv5101926,essv5019543,essv5003088,essv5086034,essv5043600,essv5115096,essv5108325,essv5091518,essv5134683,essv5048856,essv5127497,essv5100152,essv5057323,essv5118574,essv5118175,essv5080676,essv5125810,essv5020303,essv5117911,essv5154090,essv5161047,essv5041387,essv5137188,essv5064550,essv5027106,essv5044668,essv5071276,essv5018837,essv5148009,essv5025676,essv5077390,essv5051515,essv5129056,essv5004215,essv5130183,essv5109851,essv5065463,essv5087270,essv5026920,essv5136404,essv5083033,essv5023969,essv5083397,essv5053247,essv5103031,essv5108888,essv5013446,essv5060332,essv5007508,essv5039923,essv5037492,essv5027946,essv5024620,essv5072735,essv5062299,essv5030445,essv5077209,essv5067276,essv5027937,essv5042933,essv5052190,essv5044053,essv5062770,essv5152849,essv5130559,essv5150413,essv5099636,essv5057593,essv5097718,essv5114590,essv5137336,essv5057017,essv5025653,essv5008430,essv5029949,essv5058663,essv5087437,essv5015613,essv5034982,essv5105613,essv5056720,essv5103180,essv5036732,essv5038350,essv5112919,essv5094650,essv5028170,essv5135751,essv5116259,essv5057692,essv5083370,essv5114216,essv5112814,essv5061862,essv5039395,essv5069578,essv5115348,essv5077017,essv5015230,essv5155135,essv5058253,essv5084560,essv5028018,essv5139039,essv5122438,essv5069657,essv5148688,essv5143738,essv5129849 M 1184 0 121 NBEAL1 NA06986,NA06995,NA06997,NA07014,NA07031,NA07037,NA07045,NA07056,NA07346,NA07347,NA07349,NA10831,NA10835,NA10837,NA10845,NA10846,NA10850,NA10852,NA10859,NA10861,NA10863,NA11882,NA11931,NA11994,NA12144,NA12155,NA12234,NA12248,NA12249,NA12264,NA12273,NA12283,NA12287,NA12336,NA12340,NA12343,NA12376,NA12413,NA12489,NA12708,NA12761,NA12763,NA12767,NA12778,NA12814,NA12817,NA12827,NA12828,NA12864,NA12873,NA12874,NA12891,NA17976,NA18118,NA18499,NA18532,NA18577,NA18617,NA18874,NA18875,NA18952,NA19085,NA19102,NA19103,NA19159,NA19327,NA19473,NA19652,NA19653,NA19654,NA19656,NA19660,NA19662,NA19664,NA19669,NA19671,NA19681,NA19682,NA19683,NA19685,NA19686,NA19770,NA19772,NA19782,NA19784,NA19788,NA19790,NA19834,NA19836,NA20319,NA20342,NA20343,NA20502,NA20506,NA20520,NA20527,NA20528,NA20538,NA20539,NA20752,NA20753,NA20754,NA20755,NA20759,NA20760,NA20770,NA20785,NA20786,NA20790,NA20795,NA20801,NA20802,NA20808,NA20812,NA20870,NA20885,NA21353,NA21359,NA21361,NA21363,NA21473 nsv442846 2 203608045 203610291 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NBEAL1 nsv514115 2 203608048 203610240 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627341 S 1414 0 1 NBEAL1 esv24934 2 203879383 203882915 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17335 S 451 0 1 "" NA19190 nsv3115 2 203888459 203930454 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4494 S 9 0 1 ABI2 NA12878 nsv875718 2 203888749 203985894 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546004 S 6533 1 0 ABI2 MS17097 nsv498951 2 203889907 203899986 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585812 S 9 0 1 "" esv29211 2 203890300 203899719 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12163 S 451 0 2 "" NA12044,NA12878 esv25574 2 204012841 204014825 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10246 S 451 0 2 RAPH1 NA18502,NA19108 nsv523309 2 204023639 204107580 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699049 S 2026 1 0 RAPH1 nsv523737 2 204086471 204095922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699553 S 2026 0 1 RAPH1 nsv3116 2 204091156 204123984 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4495 S 9 1 0 RAPH1 NA12878 nsv875719 2 204111038 204188670 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554229 S 6533 1 0 "" MS20671 nsv3117 2 204124491 204159359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1567 S 9 1 0 "" NA19240 nsv3118 2 204170744 204215640 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7600 S 9 0 1 "" NA12156 nsv3119 2 204205532 204237354 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10262 S 9 1 0 "" NA18956 esv270179 2 204413177 204413656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495539,essv2498768 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18916,NA19138 nsv875720 2 204534340 204585365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500571 S 6533 1 0 ICOS SP50084 esv33060 2 204544142 204544873 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101562,essv101183,essv92892 M 51 0 3 "" 21603,21618,21939 nsv508195 2 204673374 204703733 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620200 S 4 0 1 "" NA15510 nsv518928 2 204792684 204798890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696394 S 2026 0 1 "" nsv523634 2 204829758 204830076 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699434 S 2026 1 0 "" esv2485213 2 204846577 204847517 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357436 S 1 1 0 "" NA18507 nsv819602 2 204867470 204868488 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419152 S 2 0 1 "" AK1 esv2301920 2 204893309 204893762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879303 S 1 0 1 "" NA18507 esv1005131 2 204893499 204893562 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584532 S 3 0 1 "" HuRef esv1552667 2 204893499 204893563 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796362 S 2 0 1 "" HuRef nsv875721 2 204940317 205014269 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499097 S 6533 1 0 "" SP50084 esv26246 2 204949216 204951548 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11338 S 451 0 1 "" NA18907 esv34706 2 205017456 205056969 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988259,essv6979871 M 771 0 1 "" NA18854 nsv519470 2 205043875 205045645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696870 S 2026 0 1 "" dgv1283e1 2 205050972 205056969 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1002,essv8503 M 271 0 0 "" NA18854 nsv10212 2 205051900 205057716 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28350 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 esv25307 2 205052064 205057328 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18468 S 451 0 1 "" NA19108 nsv518872 2 205054912 205056800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696329 S 2026 0 1 "" essv13821 2 205054912 205056969 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv508126 2 205139024 205145024 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618561 S 4 0 1 PARD3B CHM nsv875722 2 205170344 205280963 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500405 S 6533 1 0 PARD3B SP50084 nsv875723 2 205197898 205321091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527939 S 6533 0 1 PARD3B SP81080 esv1244765 2 205221903 205221903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256696 S 2 1 0 PARD3B HuRef esv29433 2 205225763 205227528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18298 S 451 0 2 PARD3B NA18861,NA19108 dgv1284e1 2 205248077 205549419 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2989,esv478 M 271 0 0 PARD3B NA18981 nsv10213 2 205277617 205279515 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11744 S 31 1 0 Samples from several populations that are part of the HapMap project. PARD3B NA18517 esv259468 2 205277777 205278532 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393775 S 6 0 0 Samples from several populations that are part of the HapMap project. PARD3B NA19238 esv259716 2 205277802 205278561 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395248,essv2396517,essv2395015,essv2397991,essv2395969,essv2394504 M 144 0 0 Samples from several populations that are part of the HapMap project. PARD3B NA18499,NA18517,NA18519,NA19147,NA19238,NA19257 dgv4416n71 2 205280963 205469045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875725,nsv875724 M 6533 0 2 PARD3B IS37088,MS12209 esv2218789 2 205286168 205286566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647424 S 1 0 1 PARD3B NA18507 nsv875726 2 205297018 205409079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600167 S 6533 0 1 PARD3B IS41853 nsv10214 2 205323691 205326345 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11661,nssv11697 M 31 2 0 Samples from several populations that are part of the HapMap project. PARD3B NA18860,NA19132 nsv875727 2 205334728 205423490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500161 S 6533 1 0 PARD3B SP50084 esv267492 2 205360138 205360478 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540865,essv2546558,essv2520378,essv2577688,essv2564139,essv2520816,essv2552609,essv2551897,essv2544921,essv2523845,essv2539760,essv2528826,essv2570096,essv2553126,essv2543511,essv2556193,essv2530187,essv2527423,essv2573533,essv2543272,essv2538772,essv2526696,essv2560423,essv2549899,essv2547985 M 157 25 0 Samples from several populations that are part of the HapMap project. PARD3B NA07347,NA11831,NA11881,NA12716,NA12761,NA12828,NA18498,NA18502,NA18504,NA18526,NA18537,NA18563,NA18579,NA18593,NA18605,NA18870,NA18871,NA18949,NA18952,NA18964,NA18965,NA19108,NA19114,NA19190,NA19225 nsv441801 2 205366265 205391991 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PARD3B nsv3120 2 205403856 205421537 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5842 S 9 0 1 PARD3B NA19129 esv28199 2 205414460 205420199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12848 S 451 0 1 PARD3B NA19129 nsv514983 2 205416896 205418992 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628484 S 1414 0 0 PARD3B esv2480501 2 205482753 205484180 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345988 S 1 0 1 PARD3B NA18507 nsv875728 2 205561381 205615190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551643 S 6533 0 1 PARD3B MS18965 esv1280784 2 205571319 205571403 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308509 S 2 0 1 PARD3B HuRef esv1414979 2 205571411 205571487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015905 S 2 0 1 PARD3B HuRef esv27735 2 205607015 205838466 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16797,esv16739,esv10666 M 451 31 1 PARD3B NA06985,NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240,NA19257 nsv215415 2 205627406 205629882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233993 M 24 PARD3B nsv214430 2 205630381 205630446 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233008 M 24 PARD3B nsv525418 2 205677465 205785852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701542 S 2026 0 1 PARD3B nsv875729 2 205680800 205735559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500181 S 6533 1 0 PARD3B SP50084 nsv3122 2 205714887 205744275 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6896 S 9 1 0 PARD3B NA12156 nsv523965 2 205736946 205738050 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699816 S 2026 0 1 PARD3B nsv875730 2 205765894 205801612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499221 S 6533 1 0 PARD3B SP50084 nsv517619 2 205824033 205833558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670881,nssv678755,nssv693378,nssv691673,nssv670914,nssv662714,nssv667621,nssv652534,nssv687911,nssv678095,nssv661716,nssv657344,nssv680410 M 2026 0 13 PARD3B nsv819159 2 205836186 205838188 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419367 S 2 1 0 PARD3B AK1 dgv686n67 2 205836252 205838105 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821880,nsv821879,nsv821882,nsv821881,nsv821883 M 31 29 0 PARD3B AK10,AK12,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820342 2 205836252 205838192 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420285 S 1 0 1 PARD3B NA10851 esv268709 2 205855477 205855812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505523,essv2503765,essv2497186,essv2505435,essv2502730 M 157 5 0 Samples from several populations that are part of the HapMap project. PARD3B NA12154,NA12761,NA18552,NA18952,NA18965 esv2130362 2 205872326 205872730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862066 S 1 0 1 PARD3B NA18507 nsv508881 2 205880047 205947927 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619296 S 4 1 0 PARD3B NA10860 esv25775 2 205980337 206379564 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19770,esv10162 M 451 8 0 NRP2,PARD3B NA06985,NA11993,NA12156,NA12287,NA12749,NA18861,NA19190,NA19225 esv2751840 2 206022916 206221166 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984165,essv6989923,essv6989922,essv6984164,essv6984163 M 771 0 1 PARD3B BEC_792 nsv875731 2 206054831 206090275 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500388 S 6533 1 0 PARD3B SP50084 dgv235n21 2 206133919 206153360 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519301,nsv520393 M 2026 0 2 PARD3B nsv834514 2 206148947 206311412 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442491 S 95 1 0 NRP2,PARD3B nsv460021 2 206200643 206320830 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536649 S 1557 1 0 NRP2 1798860279_A nsv875732 2 206205966 206268983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500286 S 6533 1 0 NRP2 SP50084 esv1675081 2 206225445 206225445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889639 S 2 1 0 "" HuRef nsv3123 2 206254513 206287538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4496 S 9 1 0 NRP2 NA12878 nsv526779 2 206318233 206323311 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703131 S 2026 0 1 NRP2 nsv524370 2 206320830 206322405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700282 S 2026 0 1 NRP2 nsv875733 2 206339499 206570260 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549340 S 6533 1 0 INO80D,NRP2 MS18192 nsv3124 2 206391060 206429011 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7601 S 9 0 1 "" NA12156 nsv834515 2 206410290 206558021 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442493,nssv1442492 M 95 2 0 "" nsv875734 2 206426955 206516304 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577635 S 6533 1 0 "" IS34510 esv2565109 2 206438750 206440311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210354 S 1 0 1 "" NA18507 nsv511833 2 206438762 206440529 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626489 S 1 0 1 "" 1 esv2022794 2 206439239 206439940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524923 S 1 0 1 "" NA18507 esv5374 2 206439361 206439857 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27815 S 1 0 1 Single Asian sample YH "" YH dgv76n6 2 206439428 206439767 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv214961,nsv213637 M 24 "" esv993675 2 206439436 206439758 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579727 S 3 0 1 "" HuRef esv1735474 2 206439444 206439767 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173026 S 2 0 1 "" HuRef esv6359 2 206439447 206439751 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28800 S 1 0 1 "" SJK nsv3125 2 206484221 206517219 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5843 S 9 1 0 "" NA19129 nsv508196 2 206531554 206593828 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622445 S 4 0 1 INO80D NA18994 esv4068 2 206561682 206562000 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26509 S 1 0 1 Single Asian sample YH "" YH nsv875735 2 206686024 206706295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581009 S 6533 1 0 LOC100329109,NDUFS1 IS35487 nsv875736 2 206686024 206714921 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595913,nssv1599572 M 6533 1 1 LOC100329109,NDUFS1 IS40368,IS41687 nsv875737 2 206689328 206757185 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577636 S 6533 1 0 EEF1B2,GPR1,LOC100329109,NDUFS1,SNORA41,SNORD51 IS34510 nsv821884 2 206696773 206697223 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424070 S 31 1 0 NDUFS1 NA18582 nsv821885 2 206732303 206733470 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424071 S 31 1 0 EEF1B2,NDUFS1 NA18582 nsv3126 2 206791163 206824216 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7602 S 9 1 0 "" NA12156 nsv875738 2 206805778 206975861 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499139 S 6533 1 0 ZDBF2 SP50084 nsv528596 2 206808931 206813545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705222 S 2026 0 1 "" nsv834516 2 206855062 207013671 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442494 S 95 1 0 ZDBF2 esv1727521 2 206947590 206947806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768521 S 2 0 1 "" HuRef nsv519846 2 206956639 206961885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697082 S 2026 0 1 "" esv1191983 2 206973702 206973702 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045942 S 2 1 0 "" HuRef esv1617883 2 206973905 206973905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262487 S 2 1 0 "" HuRef nsv527869 2 206979043 206979199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704368 S 2026 0 1 "" nsv875739 2 207273241 207319586 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500607 S 6533 1 0 DYTN,MDH1B SP50084 nsv525269 2 207291651 207299302 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701369 S 2026 1 0 "" nsv525894 2 207295562 207299302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702097 S 2026 0 1 "" esv259932 2 207370508 207376680 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396725,essv2394471,essv2396710 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA12045,NA12750 nsv3127 2 207423894 207469215 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7603 S 9 0 1 "" NA12156 nsv3128 2 207447997 207479520 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10263 S 9 1 0 "" NA18956 nsv875740 2 207448975 207547751 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499443 S 6533 1 0 CPO SP50084 esv275226 2 207537203 207544424 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585981,essv2585602 M 1250 1 1 CPO esv27264 2 207568968 207574008 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20607 S 451 0 2 "" NA11931,NA12287 esv2654664 2 207599532 207601096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316073 S 1 0 1 "" NA18507 nsv3129 2 207659784 207704899 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7604 S 9 0 1 KLF7,MIR2355 NA12156 esv269634 2 207685116 207685452 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571784,essv2546554,essv2521419,essv2525946,essv2522999,essv2570783,essv2556650,essv2577521,essv2570485,essv2548539,essv2521540,essv2550521,essv2550463,essv2554035,essv2544337,essv2551962,essv2520436,essv2547488,essv2529210,essv2564455,essv2577884,essv2565294,essv2520175,essv2564242,essv2530837,essv2537196,essv2528256,essv2530456,essv2521019,essv2557560,essv2552615,essv2551857,essv2532385,essv2569332,essv2550093,essv2558929,essv2539116,essv2569671,essv2527277,essv2561559,essv2544623,essv2563017,essv2523670,essv2541238,essv2524650,essv2565153,essv2534947,essv2561044,essv2539651,essv2519558,essv2560121,essv2522257,essv2566176,essv2567917,essv2570134,essv2563848,essv2535875,essv2572420,essv2559325,essv2566698,essv2542056,essv2550883,essv2543722,essv2556303,essv2528036,essv2539350,essv2533861,essv2578166,essv2572969,essv2531662,essv2573748,essv2543182,essv2525553,essv2526739,essv2529662,essv2575560,essv2575307,essv2526583,essv2560529,essv2524289,essv2560875,essv2545194,essv2560425,essv2548080,essv2549719,essv2571473,essv2545931,essv2574246,essv2551628,essv2537848,essv2548934,essv2554695,essv2547752,essv2563442 M 157 94 0 Samples from several populations that are part of the HapMap project. KLF7 NA07000,NA07037,NA07346,NA07347,NA10847,NA11840,NA11881,NA11894,NA11918,NA11931,NA11993,NA11994,NA12043,NA12044,NA12045,NA12144,NA12155,NA12234,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12812,NA12815,NA12828,NA12873,NA12878,NA12891,NA18486,NA18498,NA18499,NA18502,NA18504,NA18505,NA18508,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18577,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18961,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19137,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv273122 2 207685116 207685452 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581911,essv2582360,essv2583991,essv2584638,essv2583633 M 7 5 0 Samples from several populations that are part of the HapMap project. KLF7 NA12878,NA12891,NA19238,NA19239,NA19240 nsv522777 2 207746145 207747868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698419 S 2026 0 1 "" nsv515772 2 207746782 207747868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664732,nssv675563 M 2026 0 2 "" esv2602105 2 207747885 207749294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233559 S 1 0 1 "" NA18507 nsv519412 2 207794959 207811297 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696839 S 2026 1 0 "" esv22515 2 207852570 207855348 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11029 S 451 0 3 "" NA18517,NA18916,NA19240 nsv3130 2 208045093 208072622 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4497 S 9 0 1 "" NA12878 nsv875741 2 208046696 208071307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585683 S 6533 0 1 "" IS37621 esv1031668 2 208049173 208049233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899643 S 2 0 1 "" HuRef nsv214524 2 208049282 208049331 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233102 M 24 "" nsv508197 2 208049868 208074387 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618705 S 4 0 1 "" NA10860 nsv515619 2 208053625 208071307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691696,nssv676150,nssv666298,nssv651909,nssv689310,nssv668478,nssv676263,nssv693149,nssv693570,nssv671608,nssv673997,nssv672844,nssv658854,nssv674121,nssv677558,nssv661905,nssv665629,nssv690195,nssv676609,nssv690630,nssv659175,nssv669847,nssv659661,nssv666285,nssv670962,nssv655119,nssv669902,nssv678910,nssv674051,nssv668273,nssv676747,nssv679757,nssv692674,nssv651940,nssv679950,nssv693546,nssv692469,nssv685645,nssv675469,nssv663043,nssv667545,nssv691714,nssv683709,nssv692630,nssv678221,nssv683079,nssv658093,nssv684530,nssv680838,nssv688424,nssv678323,nssv653283,nssv661682,nssv686385,nssv660674,nssv697807,nssv682047,nssv662251,nssv670242,nssv656746,nssv674951,nssv654698,nssv681408,nssv686930,nssv654539,nssv688720,nssv689091,nssv692971,nssv659246,nssv684547,nssv660652,nssv656212,nssv667049,nssv673828,nssv689844,nssv674933,nssv664873,nssv658915,nssv654180,nssv671491,nssv690891,nssv682657,nssv674216,nssv690680,nssv669134,nssv653431,nssv664553,nssv657204,nssv675937,nssv689176,nssv666715,nssv656042,nssv656358,nssv681972,nssv682846,nssv665839,nssv686421,nssv680411,nssv674590,nssv654101,nssv685580,nssv672284,nssv685944,nssv655330,nssv676907,nssv667857,nssv663610,nssv690778,nssv693011,nssv669065,nssv668249,nssv680242,nssv657251,nssv693035,nssv663732,nssv676865,nssv684208,nssv689626,nssv653979,nssv663188,nssv671004,nssv664084,nssv679500,nssv688026,nssv662836,nssv658655,nssv670069,nssv654242,nssv679697,nssv662905,nssv666757,nssv677948,nssv663854,nssv655861,nssv666257,nssv679023,nssv675410,nssv670915,nssv673508,nssv685375,nssv687264,nssv673142,nssv672030,nssv656233,nssv687213,nssv668426,nssv679561,nssv675024,nssv667795,nssv662493,nssv688395,nssv665289,nssv662559,nssv679229,nssv672226,nssv660077,nssv683673,nssv672678,nssv675989,nssv687638,nssv680819,nssv676823,nssv669035,nssv669433,nssv686449,nssv674343,nssv662344,nssv670205,nssv658579,nssv659801,nssv666875,nssv692819,nssv661807,nssv689732,nssv654846,nssv667446,nssv677263,nssv672663,nssv652977,nssv657816,nssv671208,nssv693961,nssv657919,nssv678672,nssv690605,nssv652471,nssv660993,nssv685776,nssv662987,nssv657142,nssv653884,nssv687549,nssv691503,nssv662202,nssv652218,nssv655449,nssv692004,nssv668922,nssv675003,nssv681482,nssv660126,nssv670882,nssv682023,nssv659900,nssv667654,nssv655263,nssv671570,nssv672963,nssv656841,nssv661170,nssv654934,nssv658557,nssv674494,nssv682036,nssv658173,nssv689459,nssv667501,nssv683926,nssv653310,nssv687817,nssv668407,nssv680304,nssv662408,nssv665081,nssv662624,nssv667427,nssv653505,nssv684784,nssv653001,nssv679663,nssv669646,nssv662885,nssv691522,nssv660197,nssv688685,nssv656636,nssv685141,nssv656121,nssv672137,nssv665707,nssv688956,nssv656612,nssv687476,nssv691726,nssv669833,nssv669404,nssv655284,nssv672565,nssv679003,nssv680555,nssv693718,nssv658299,nssv686913,nssv660250,nssv677616,nssv664199,nssv683825,nssv683023,nssv684333,nssv691330,nssv676588,nssv658737,nssv683286,nssv682265,nssv668906,nssv686621,nssv684734,nssv657185,nssv682176,nssv676281,nssv667201,nssv656096,nssv661518,nssv672925,nssv660159,nssv683190,nssv652716,nssv653462,nssv656473,nssv677491,nssv693464,nssv680672,nssv685164,nssv684677,nssv673376,nssv685227,nssv662426,nssv693313 M 2026 0 288 "" nsv437314 2 208057503 208071307 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467195 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 esv992964 2 208058494 208067614 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564308 S 3 0 1 "" HuRef nsv819334 2 208058751 208067699 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418561 S 2 1 0 "" AK1 nsv821361 2 208058760 208067649 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420286 S 1 0 1 "" NA10851 nsv821886 2 208058787 208067628 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431922 S 31 0 1 "" AK20 nsv10215 2 208058832 208067724 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27619,nssv28447,nssv28860,nssv28844,nssv11592,nssv11549,nssv28576,nssv29085,nssv28783,nssv12413,nssv11828,nssv28421,nssv28399,nssv28624,nssv11691,nssv28861,nssv28671,nssv11727,nssv28524,nssv12300,nssv11743,nssv27828,nssv28881,nssv29038,nssv28199,nssv28956,nssv11804,nssv28635 M 31 28 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv21764 2 208059097 208067649 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18244 S 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv498952 2 208059397 208067617 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585813 S 9 0 1 "" nsv514116 2 208059568 208067472 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627353 S 1414 0 1 "" nsv438380 2 208061308 208066083 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471212,nssv471211 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18852,NA18854 esv2421688 2 208061364 208067581 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017656,essv5124898,essv5052257,essv5041937,essv5119110,essv5131848,essv5103653,essv5157515,essv5031626,essv5059528,essv5137943,essv5039637,essv5045354,essv5077312,essv5132839,essv5015737,essv5002326,essv5049009,essv5059685,essv5046311,essv5156439,essv5154395,essv5052544,essv5145845,essv5043784,essv5022676,essv5012523,essv5153035,essv5110443,essv5156389,essv5146951,essv5030254,essv5127697,essv5142045,essv5155994,essv5143139,essv5067614,essv5043342,essv5099191,essv5002255,essv5037734,essv5136146,essv5046293,essv5095389,essv5064763,essv5049415,essv5105841,essv5158875,essv5127000,essv5144764,essv5003550,essv5090602,essv5111890,essv5133401,essv5146519,essv5133123,essv5117232,essv5084497,essv5061779,essv5064870,essv5067370,essv5050221,essv5077332,essv5122712,essv5089640,essv5049762,essv5078068,essv5084739,essv5102643,essv5083794,essv5135821,essv5129750,essv5013230,essv5050004,essv5109906,essv5150520,essv5069680,essv5146814,essv5116091,essv5091694,essv5156404,essv5128428,essv5060888,essv5027187,essv5025584,essv5139211,essv5133451,essv5106857,essv5153023,essv5029265,essv5054775,essv5024790,essv5138084,essv5137367,essv5150197,essv5054659,essv5083945,essv5081674,essv5156029,essv5053852,essv5008441,essv5058414,essv5070297,essv5144224,essv5161189,essv5078556,essv5147418,essv5055930,essv5158968,essv5055455,essv5037597,essv5030556,essv5034394,essv5048139,essv5089889,essv5086453,essv5091129,essv5056130,essv5100080,essv5077394,essv5090239,essv5060550,essv5052668,essv5020863,essv5023608,essv5089960,essv5059913,essv5070778,essv5053349,essv5006989,essv5045726,essv5133461,essv5043891,essv5115284,essv5013856,essv5134672,essv5044064,essv5068035,essv5095541,essv5090839,essv5122168,essv5019621 M 1184 0 142 "" NA06984,NA06989,NA07014,NA07051,NA07056,NA07345,NA07348,NA07357,NA10830,NA10837,NA10847,NA10853,NA10856,NA10859,NA10863,NA11829,NA11843,NA11881,NA11918,NA11931,NA11992,NA11993,NA12006,NA12043,NA12057,NA12154,NA12234,NA12239,NA12264,NA12272,NA12283,NA12336,NA12342,NA12347,NA12399,NA12708,NA12718,NA12753,NA12763,NA12766,NA12775,NA12778,NA12801,NA12812,NA12813,NA12842,NA12865,NA12875,NA12878,NA12889,NA12891,NA12892,NA18509,NA18511,NA18852,NA18854,NA19146,NA19399,NA19474,NA19654,NA19679,NA19681,NA19719,NA19723,NA19724,NA19761,NA19762,NA19763,NA19776,NA19778,NA19788,NA19790,NA19819,NA19828,NA20292,NA20317,NA20319,NA20348,NA20509,NA20510,NA20512,NA20516,NA20519,NA20521,NA20522,NA20525,NA20528,NA20530,NA20531,NA20534,NA20540,NA20542,NA20581,NA20586,NA20752,NA20756,NA20758,NA20761,NA20768,NA20772,NA20773,NA20774,NA20783,NA20801,NA20802,NA20806,NA20807,NA20813,NA20815,NA20816,NA20819,NA20828,NA20846,NA20871,NA20881,NA20898,NA20907,NA21103,NA21317,NA21320,NA21355,NA21365,NA21366,NA21370,NA21378,NA21388,NA21415,NA21435,NA21436,NA21448,NA21453,NA21455,NA21476,NA21522,NA21523,NA21576,NA21580,NA21611,NA21616,NA21617,NA21682,NA21825 nsv442847 2 208063423 208067581 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv486n27 2 208064026 208066083 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460025,nsv460048,nsv460046,nsv460023,nsv460045,nsv460047,nsv460027,nsv460040,nsv460035,nsv460030,nsv460026,nsv460043,nsv460036,nsv460049,nsv460034,nsv460037,nsv460041,nsv460031,nsv460038,nsv460053,nsv460044,nsv460051,nsv460029,nsv460042,nsv460054,nsv460052,nsv460024 M 1557 0 27 "" 1780854264_A,1780854538_A,1780862252_A,1780862487_A,1780862519_A,1780862520_A,1780862539_A,1780862587_A,1782681095_A,1782681219_A,1798860084_A,1798860279_A,HGDP00025,HGDP00599,HGDP00628,HGDP00650,HGDP00882,HGDP00924,HGDP01280,HGDP01378,NINDS_109,NINDS_125,NINDS_200,NINDS_210,NINDS_226,NINDS_239,NINDS_69 nsv460032 2 208064035 208064454 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536659 S 1557 0 1 "" 1788485588_A nsv460033 2 208064035 208065237 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536660 S 1557 0 1 "" 1780862306_A nsv818107 2 208064035 208066083 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416137,nssv1418352,nssv1416222,nssv1417835,nssv1417969,nssv1418351,nssv1418535,nssv1416036,nssv1415822,nssv1416136,nssv1418534,nssv1417968,nssv1416138,nssv1417261,nssv1417834,nssv1418049,nssv1417239,nssv1415823,nssv1416037,nssv1418047,nssv1416223,nssv1417250,nssv1415745,nssv1415821,nssv1416035,nssv1415744,nssv1417971 M 112 0 27 "" NA07345,NA07348,NA07357,NA10830,NA10847,NA10851,NA10859,NA10860,NA10863,NA11881,NA11992,NA11993,NA12057,NA12154,NA12234,NA12239,NA12264,NA12801,NA12812,NA12813,NA12865,NA12875,NA12878,NA12891,NA12892,NA18852,NA18854 nsv821888 2 208101525 208107539 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432704 S 31 1 0 CREB1 NA18972 nsv3131 2 208151146 208197512 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5844 S 9 0 1 CREB1,METTL21A NA19129 esv2591676 2 208180035 208181027 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257263 S 1 1 0 "" NA18507 esv270688 2 208180624 208180963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519332,essv2518734,essv2514817,essv2515399,essv2518484,essv2514994,essv2516341,essv2515667,essv2518040,essv2516140,essv2514439,essv2517597,essv2513786,essv2519447,essv2513673 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11894,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA19143 esv274474 2 208180624 208180963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581563 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv77n6 2 208180663 208185056 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv214634,nsv215463 M 24 METTL21A esv996264 2 208181951 208189812 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564719 S 3 0 1 METTL21A HuRef esv2523513 2 208182364 208185965 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305899 S 1 0 1 METTL21A NA18507 esv2173449 2 208182540 208185133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570448 S 1 0 1 METTL21A NA18507 nsv511834 2 208182692 208185345 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626490 S 1 0 1 METTL21A 1 nsv498953 2 208182727 208185043 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585814 S 9 0 1 METTL21A nsv875742 2 208197346 208326645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500290 S 6533 1 0 CCNYL1,METTL21A SP50084 esv1014625 2 208201529 208201703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855394 S 2 0 1 "" HuRef esv33182 2 208203463 208205182 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96748 S 51 0 1 "" 21659 nsv527870 2 208228288 208244781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704369 S 2026 0 1 "" esv1430541 2 208240849 208240849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677899 S 2 1 0 "" HuRef esv2520946 2 208275160 208276830 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223346 S 1 0 1 "" NA18507 esv2307150 2 208275285 208275957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913887 S 1 0 1 "" NA18507 esv3773 2 208275404 208275837 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26214 S 1 0 1 Single Asian sample YH "" YH esv6337 2 208275464 208275770 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28778 S 1 0 1 "" SJK nsv3133 2 208327198 208391624 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1568,nssv5845 M 9 2 0 CCNYL1,FZD5,MIR4775 NA19129,NA19240 nsv821889 2 208338621 208344473 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432705 S 31 1 0 FZD5 NA18972 nsv3134 2 208372060 208380998 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7605 S 9 0 1 "" NA12156 nsv875743 2 208396893 208648268 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500168 S 6533 1 0 PLEKHM3 SP50084 nsv527843 2 208423559 208426028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704341 S 2026 0 1 PLEKHM3 nsv520066 2 208424990 208426028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677595,nssv660398,nssv672393 M 2026 0 3 PLEKHM3 nsv3135 2 208602775 208635175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10265 S 9 1 0 "" NA18956 esv2345756 2 208618396 208619107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722265 S 1 0 1 "" NA18507 nsv519691 2 208647111 208648268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684227,nssv657589,nssv685044 M 2026 0 3 "" nsv875744 2 208661055 208702290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574107 S 6533 0 1 CRYGC,CRYGD,LOC100507443 IS33514 nsv3136 2 208666069 208687549 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7606,nssv5846,nssv4498 M 9 3 0 "" NA12156,NA12878,NA19129 esv2563261 2 208666257 208667969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365692 S 1 0 1 "" NA18507 nsv508882 2 208666531 208696342 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623360,nssv621182,nssv619297 M 4 3 0 CRYGD,LOC100507443 NA10860,NA15510,NA18994 esv2092690 2 208667238 208667894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611510 S 1 0 1 "" NA18507 esv1560558 2 208667368 208667711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730844 S 2 0 1 "" HuRef esv7160 2 208667371 208667697 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29601 S 1 0 1 "" SJK esv992690 2 208671456 208671566 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564682 S 3 1 0 "" HuRef dgv4417n71 2 208678110 208702290 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875746,nsv875745 M 6533 0 3 CRYGC,CRYGD,LOC100507443 IS33797,IS39233,SP54988 nsv875747 2 208698590 208751208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536682 S 6533 0 1 C2orf80,CRYGA,CRYGB,CRYGC,LOC100507443 MS12905 nsv875748 2 208702644 208741802 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500705 S 6533 1 0 C2orf80,CRYGA,CRYGB,CRYGC,LOC100507443 SP50084 nsv834517 2 208715042 208878514 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442496 S 95 0 1 C2orf80,CRYGA,CRYGB,IDH1,LOC100507443,PIKFYVE nsv526795 2 208728426 208729870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703149 S 2026 0 1 LOC100507443 nsv516201 2 208729477 208729870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655554,nssv688769,nssv666786,nssv687886,nssv686874 M 2026 0 5 LOC100507443 dgv4418n71 2 208731154 208777548 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875750,nsv875749 M 6533 0 4 C2orf80,CRYGA IS30478,IS31205,IS32704,IS35388 nsv508883 2 208739521 208752598 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621184 S 4 1 0 C2orf80 NA15510 nsv524826 2 208739922 208742960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700822 S 2026 0 1 C2orf80 nsv875751 2 208751208 208819029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499523 S 6533 1 0 C2orf80,IDH1 SP50521 nsv522180 2 208760548 208770633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694953 S 2026 0 1 C2orf80 esv274878 2 208762542 208766630 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585251 S 1250 0 1 C2orf80 esv2526251 2 208769004 208770516 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329774 S 1 0 1 "" NA18507 esv2009585 2 208769225 208769916 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588591 S 1 0 1 "" NA18507 esv4098 2 208769276 208769892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26539 S 1 0 1 Single Asian sample YH "" YH esv997062 2 208769404 208769723 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572663 S 3 0 1 "" HuRef esv1739301 2 208769413 208769733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901282 S 2 0 1 "" HuRef esv6944 2 208769413 208769739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29385 S 1 0 1 "" SJK esv267934 2 208780009 208780094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518807 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv525747 2 208795580 208824998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701914 S 2026 0 1 IDH1 nsv875752 2 208849311 208943618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591649 S 6533 0 1 PIKFYVE IS39011 nsv819526 2 208878254 208878785 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418985 S 2 0 1 PIKFYVE AK1 nsv3137 2 208893547 208917137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4500 S 9 1 0 PIKFYVE NA12878 nsv437315 2 208912959 208957858 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467196 S 60 0 1 Samples from several populations that are part of the HapMap project. PIKFYVE NA18500 nsv460055 2 208916360 208930180 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536682 S 1557 0 1 PIKFYVE NINDS_162 esv28670 2 208941931 208955577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9904 S 451 0 1 "" NA18502 nsv438381 2 208943618 208947987 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471214,nssv471215 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA18502 nsv523966 2 208943618 208947987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699817 S 2026 0 1 "" esv2421431 2 208943618 208955466 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5101757,essv5046702,essv5063580,essv5090150,essv5082074,essv5148783,essv5085309,essv5040664,essv5107669,essv5112936,essv5105168,essv5009686 M 1184 0 12 "" NA18500,NA18511,NA19096,NA19097,NA19179,NA19180,NA19213,NA19235,NA19237,NA19915,NA20276,NA20345 nsv10216 2 208945394 208955639 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11622 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv3138 2 209013491 209029616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10266 S 9 1 0 PTH2R NA18956 esv269472 2 209103810 209104183 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510656,essv2503049,essv2494680,essv2498547,essv2507202,essv2495711,essv2506845,essv2497704,essv2499790,essv2501908 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18507,NA18519,NA18858,NA18870,NA18916,NA19102,NA19147,NA19225,NA19239 esv274257 2 209103816 209104094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580369,essv2580003,essv2579353 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19239 esv2493689 2 209159278 209160928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290250 S 1 0 1 "" NA18507 esv2340327 2 209159781 209160484 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674050 S 1 0 1 "" NA18507 esv5250 2 209159905 209160360 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27691 S 1 0 1 Single Asian sample YH "" YH esv6403 2 209159948 209160294 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28844 S 1 0 1 "" SJK nsv213744 2 209159963 209160289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232322 M 24 "" esv1448206 2 209159976 209160303 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4295161 S 2 0 1 "" HuRef esv2436454 2 209174951 209175951 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355300 S 1 1 0 "" NA18507 dgv1285e1 2 209180796 209260197 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10610,esv1405 M 271 0 0 "" NA19211 nsv875753 2 209182468 209226160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564591 S 6533 0 1 "" IS30245 nsv875754 2 209231864 209330456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500385 S 6533 1 0 "" SP50084 nsv875755 2 209271998 209453262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591650 S 6533 0 1 "" IS39011 esv2425381 2 209279458 209281206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389814 S 1 0 1 "" NA18507 esv273126 2 209313398 209313830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579165 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268581 2 209313505 209313599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557041,essv2569510,essv2578594,essv2575537,essv2572920,essv2551331 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18510,NA19099,NA19143,NA19257 nsv875756 2 209343254 209453262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597991 S 6533 0 1 "" IS41113 nsv214026 2 209346223 209346273 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232604 M 24 "" nsv215483 2 209346260 209346310 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234061 M 24 "" nsv525152 2 209367467 209384282 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701224 S 2026 1 0 "" nsv460057 2 209367467 209444254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536683 S 1557 0 1 "" 1798860567_A nsv875757 2 209367467 209463304 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499860 S 6533 1 0 "" SP50084 nsv875758 2 209384282 209492334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581802 S 6533 0 1 "" IS35728 dgv236n21 2 209392492 209400435 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528386,nsv522738 M 2026 0 2 "" nsv875759 2 209400435 209492334 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589661 S 6533 1 0 "" IS38394 nsv460058 2 209463304 209574640 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536684 S 1557 0 1 "" NINDS_103 nsv875760 2 209525771 209638223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563414 S 6533 0 1 "" MS26001 nsv526239 2 209572309 209585323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702508 S 2026 1 0 "" nsv516581 2 209602299 209608033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669302,nssv684504 M 2026 0 2 "" nsv875761 2 209620353 209930249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523104 S 6533 1 0 "" SP53643 nsv3139 2 209623563 209672964 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9587,nssv4501,nssv5847,nssv7607 M 9 0 4 "" NA12156,NA12878,NA18507,NA19129 nsv508198 2 209644022 209658331 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617469 S 4 0 1 "" CHM esv2592840 2 209649379 209657606 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170967 S 1 0 1 "" NA18507 esv2627203 2 209650314 209657568 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225746 S 1 0 1 "" NA18507 nsv436264 2 209650930 209657271 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465969 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498954 2 209651213 209657195 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585815 S 9 0 1 "" dgv4419n71 2 209700598 209744900 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875763,nsv875762 M 6533 0 6 "" SP50631,SP53490,SP56096,SP56960,SP57489,SP81014 nsv3140 2 209720107 209754310 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7608 S 9 1 0 "" NA12156 nsv821890 2 209743025 209752391 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440237 S 31 0 1 "" NA18564 nsv528863 2 209796325 209823141 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705543 S 2026 1 0 "" nsv460060 2 209796325 209862455 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536685 S 1557 1 0 "" 1780854441_A nsv516299 2 209841505 209851543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667403,nssv687887 M 2026 0 2 "" esv2471955 2 209888109 209889658 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317548 S 1 0 1 "" NA18507 esv268219 2 209892892 209893264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512572,essv2494166,essv2493201,essv2493661,essv2495669,essv2506836,essv2499188,essv2497520,essv2499758 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18502,NA18504,NA18517,NA18916,NA19102,NA19114,NA19147,NA19225 nsv875764 2 209903962 209949235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499753 S 6533 1 0 "" SP50084 nsv834518 2 209913203 210080989 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442497 S 95 0 1 MAP2 nsv821891 2 209964076 209964536 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439567 S 31 1 0 "" NA18537 esv274197 2 209968954 209969283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579278 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269012 2 209968966 209969268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557786,essv2546274,essv2521172,essv2542603,essv2536684,essv2522918,essv2544222,essv2523374,essv2570529,essv2554254,essv2553856,essv2576489,essv2562041,essv2537362,essv2547047,essv2538911,essv2561135,essv2566823,essv2541887,essv2549869,essv2563489 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA10851,NA11881,NA11894,NA11919,NA11920,NA11931,NA11992,NA12004,NA12044,NA12287,NA12763,NA12814,NA12874,NA12878,NA12892,NA18519,NA18562,NA18853,NA18856,NA19225 nsv834519 2 209979262 210108398 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442498 S 95 0 1 MAP2 esv1055449 2 210008965 210008965 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928599 S 2 1 0 MAP2 HuRef nsv214706 2 210057347 210057431 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233284 M 24 MAP2 nsv3141 2 210149926 210181939 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2311 S 9 1 0 MAP2 NA18555 esv2608148 2 210216182 210217493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348870 S 1 0 1 MAP2 NA18507 nsv875765 2 210245905 210326448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500346 S 6533 0 1 MAP2 SP50073 nsv507065 2 210276304 210282304 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621684,nssv617581 M 4 2 0 MAP2 CHM,NA10860 nsv3142 2 210368395 210413251 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7609 S 9 0 1 UNC80 NA12156 nsv3144 2 210408253 210442287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7610 S 9 1 0 UNC80 NA12156 esv270021 2 210427151 210427541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494891,essv2499127 M 157 2 0 Samples from several populations that are part of the HapMap project. UNC80 NA18520,NA19114 nsv3145 2 210474521 210499326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2312 S 9 1 0 UNC80 NA18555 esv1346753 2 210529278 210529278 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336642 S 2 1 0 UNC80 HuRef nsv875766 2 210704329 210741421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514406 S 6533 0 1 C2orf67 SP56004 nsv834520 2 210809510 210965313 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442499 S 95 0 1 MYL1 nsv875767 2 210827478 211042892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500282 S 6533 1 0 LANCL1,MYL1 SP50084 nsv3146 2 210951787 210971354 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7611 S 9 1 0 "" NA12156 nsv3147 2 210989724 211035089 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6897 S 9 0 1 LANCL1 NA12156 nsv821631 2 211237163 211367226 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421354 S 31 0 1 CPS1 nsv522114 2 211327816 211473307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694887 S 2026 1 0 "" nsv3148 2 211346723 211381469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1569 S 9 1 0 "" NA19240 nsv875768 2 211357051 211515974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564119 S 6533 0 1 "" IS30171 dgv4420n71 2 211388646 211490944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875771,nsv875770,nsv875769 M 6533 0 3 "" MS19798,MS22322,MS22993 esv1549278 2 211478827 211478897 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048558 S 2 0 1 "" HuRef esv2422059 2 211480395 211486620 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079534,essv5024232,essv5087061,essv5029655,essv5066355,essv5091503,essv5153688,essv5086594,essv5125480,essv5048157,essv5113842,essv5157835 M 1184 0 12 "" NA18500,NA18501,NA18853,NA18854,NA18862,NA19471,NA19472,NA19473,NA20294,NA20346,NA20347,NA20364 nsv441802 2 211480395 211486620 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv270611 2 211525769 211525958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493292,essv2493801,essv2510910 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA19116 nsv875772 2 211601633 211654302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550244 S 6533 1 0 "" MS18376 esv2530812 2 211623770 211626228 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206142 S 1 0 1 "" NA18507 esv1458661 2 211625360 211625360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065413 S 2 1 0 "" HuRef nsv834521 2 211627126 211766117 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442500 S 95 0 1 "" nsv214177 2 211631919 211632006 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232755 M 24 "" nsv214316 2 211631993 211632070 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232894 M 24 "" nsv875773 2 211681845 211749648 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529988 S 6533 1 0 "" MS10164 nsv460063 2 211690139 211705048 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536688 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00412 dgv4421n71 2 211724301 211755365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875774,nsv875775 M 6533 0 3 "" SP50530,SP55774,SP56084 nsv460064 2 211754164 211809943 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536689 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00060 nsv470511 2 211754164 211809943 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547286 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00060 nsv834522 2 211774687 211933573 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442501 S 95 1 0 "" esv27966 2 211787142 211788860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14898 S 451 0 3 "" NA18861,NA18916,NA19225 nsv515773 2 211787183 211787695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685045,nssv664733,nssv670243 M 2026 0 3 "" nsv433299 2 211865349 211869249 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463180 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv2252933 2 211869626 211870050 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660272 S 1 0 1 "" NA18507 esv2955 2 211869743 211870549 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25396 S 1 0 1 Single Asian sample YH "" YH nsv834523 2 211871481 212039638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442502,nssv1442503 M 95 2 0 ERBB4 nsv213622 2 211890833 211890892 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232200 M 24 "" nsv875776 2 211905153 211973063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500107 S 6533 1 0 ERBB4 SP50084 nsv821892 2 211951033 211951682 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434292 S 31 1 0 ERBB4 NA18570 nsv460065 2 211952765 211984955 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536690 S 1557 0 1 ERBB4 1780862042_A nsv875777 2 211983182 212004120 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500411 S 6533 1 0 ERBB4 SP50084 nsv818108 2 211997973 212000944 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417590 S 112 1 0 ERBB4 NA18972 nsv520702 2 212000766 212008224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697566 S 2026 0 1 ERBB4 nsv875778 2 212006083 212069239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564586 S 6533 0 1 ERBB4 IS30244 nsv460066 2 212015322 212037661 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536691 S 1557 0 1 ERBB4 NINDS_117 esv274655 2 212020273 212020358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581617 S 7 1 0 Samples from several populations that are part of the HapMap project. ERBB4 NA12878 nsv460067 2 212021645 212086487 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536692 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERBB4 HGDP01177 dgv4422n71 2 212048985 212126355 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875780,nsv875781,nsv875779 M 6533 0 4 ERBB4 IS37985,MS19941,MS23942,SP57408 nsv528570 2 212059912 212121920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705189 S 2026 0 1 ERBB4 nsv470512 2 212059912 212136437 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547287 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERBB4 HGDP00948 nsv460068 2 212063745 212136437 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536693 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERBB4 HGDP00948 nsv875782 2 212073052 212104216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508360,nssv1513489 M 6533 0 2 ERBB4 SP54583,SP55789 nsv460069 2 212124193 212179887 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536694 S 1557 0 1 ERBB4 1782681076_A nsv460070 2 212201009 212249622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536695 S 1557 0 1 ERBB4 1798860114_A nsv875783 2 212238711 212273140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574706 S 6533 0 1 ERBB4 IS33616 esv2519305 2 212259102 212260768 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292225 S 1 0 1 ERBB4 NA18507 esv2098674 2 212259312 212259995 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807669 S 1 0 1 ERBB4 NA18507 esv4037 2 212259475 212259846 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26478 S 1 0 1 Single Asian sample YH ERBB4 YH esv2567329 2 212259491 212259787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307739 S 1 0 1 ERBB4 NA18507 nsv213952 2 212259491 212259787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232530 M 24 ERBB4 esv1034805 2 212259505 212259802 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871972 S 2 0 1 ERBB4 HuRef esv7939 2 212259507 212259791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30380 S 1 0 1 ERBB4 SJK esv34128 2 212289730 212565367 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ERBB4 nsv875784 2 212348193 212469397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578664 S 6533 0 1 ERBB4 IS34856 esv270191 2 212355414 212355499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515025 S 157 1 0 Samples from several populations that are part of the HapMap project. ERBB4 NA12812 nsv875785 2 212392191 212460438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568731 S 6533 0 1 ERBB4 IS31335 nsv834525 2 212401435 212568601 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442504 S 95 1 0 ERBB4 esv2112410 2 212408120 212408538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582373 S 1 0 1 ERBB4 NA18507 esv997888 2 212408288 212408360 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577168 S 3 0 1 ERBB4 HuRef esv273002 2 212415397 212416637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580059 S 7 1 0 Samples from several populations that are part of the HapMap project. ERBB4 hapmap_pooled_sample_set esv270993 2 212415415 212416557 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510235,essv2500857,essv2495478,essv2499396,essv2502855,essv2513207,essv2503443,essv2508800,essv2500254,essv2502776,essv2496447,essv2506666,essv2495800,essv2499506 M 157 14 0 Samples from several populations that are part of the HapMap project. ERBB4 NA07000,NA07357,NA10851,NA11830,NA11919,NA11994,NA12156,NA12249,NA12716,NA12878,NA12891,NA12892,NA18510,NA19108 esv267983 2 212416543 212416925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510192,essv2500841,essv2511013,essv2506785,essv2495431,essv2499339,essv2508069,essv2502865,essv2513195,essv2495391,essv2510304,essv2503397,essv2508812,essv2500339,essv2502811,essv2511902,essv2509932,essv2496366,essv2496242,essv2501131,essv2503312,essv2500060,essv2508271,essv2507910,essv2506346,essv2511293,essv2500631,essv2500168,essv2507698,essv2512685,essv2508159,essv2499279,essv2512886,essv2500969,essv2507123,essv2513411,essv2511679,essv2503524,essv2500554,essv2503760,essv2495951,essv2501413,essv2506473,essv2499048,essv2509574,essv2497556,essv2503666,essv2495755,essv2499567 M 157 49 0 Samples from several populations that are part of the HapMap project. ERBB4 NA06986,NA07000,NA07357,NA10851,NA11830,NA11831,NA11918,NA11919,NA11994,NA12045,NA12156,NA12249,NA12287,NA12414,NA12716,NA12878,NA12891,NA12892,NA18499,NA18508,NA18510,NA18511,NA18516,NA18542,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18605,NA18609,NA18856,NA18870,NA18907,NA18940,NA18947,NA18956,NA18960,NA18961,NA19093,NA19108,NA19114,NA19129,NA19147 esv272994 2 212416554 212416707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580144,essv2580002 M 7 2 0 Samples from several populations that are part of the HapMap project. ERBB4 NA12878,NA12892 dgv4423n71 2 212423655 212469397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875786,nsv875788,nsv875789 M 6533 0 6 ERBB4 IS35189,IS35911,MS17114,SP50144,SP51449,SP54579 nsv875787 2 212431233 212460438 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568660,nssv1570286,nssv1583037,nssv1532645,nssv1591324,nssv1594278,nssv1583564,nssv1579261,nssv1551713,nssv1551054,nssv1594166,nssv1573631,nssv1579797,nssv1535548,nssv1582921,nssv1541538,nssv1547889,nssv1537284,nssv1566386,nssv1561808,nssv1569864,nssv1589264,nssv1555152,nssv1587850,nssv1580063,nssv1570129,nssv1564974,nssv1548430,nssv1578869,nssv1591850,nssv1570266,nssv1566405,nssv1577758,nssv1568779,nssv1566331,nssv1565639,nssv1569494,nssv1532033 M 6533 5 33 ERBB4 IS30330,IS30490,IS30667,IS30683,IS30694,IS31330,IS31338,IS31587,IS31729,IS31812,IS31849,IS31875,IS33475,IS34555,IS34962,IS35083,IS35181,IS35229,IS36219,IS36244,IS36533,IS38123,IS38330,IS38688,IS39061,IS39718,IS39759,MS10699,MS10802,MS12266,MS13154,MS15347,MS17611,MS17842,MS18748,MS18978,MS21214,MS25241 nsv875790 2 212439759 212460438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513387 S 6533 0 1 ERBB4 SP55749 nsv213755 2 212443393 212445949 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232333 M 24 ERBB4 nsv821893 2 212479749 212483499 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438697,nssv1431188,nssv1438685,nssv1434967,nssv1421573,nssv1427378,nssv1439568 M 31 0 7 ERBB4 AK18,AK8,NA18537,NA18547,NA18942,NA18973,NA18997 esv25751 2 212479871 212483340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17890 S 451 0 1 ERBB4 NA06985 esv23750 2 212510172 212517516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20047 S 451 0 1 ERBB4 NA19147 nsv875791 2 212533244 212583073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554590,nssv1568105,nssv1541095 M 6533 0 3 ERBB4 IS31205,MS15199,MS20872 nsv875792 2 212533244 212604816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551714 S 6533 0 1 ERBB4 MS18978 nsv525127 2 212547291 212625003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701195 S 2026 0 1 ERBB4 dgv4424n71 2 212551022 212583073 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875793,nsv875795,nsv875796 M 6533 0 4 ERBB4 IS30432,IS30976,MS22104,SP52955 dgv4425n71 2 212551022 212597233 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875797,nsv875794 M 6533 0 2 ERBB4 MS20346,SP52694 esv270926 2 212553975 212554060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517135 S 157 1 0 Samples from several populations that are part of the HapMap project. ERBB4 hapmap_pooled_sample_set esv268536 2 212554018 212554345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575812,essv2556725,essv2547392,essv2520033,essv2555159,essv2551706,essv2544848,essv2552848,essv2542759,essv2540467,essv2524536,essv2564957,essv2539521,essv2549259,essv2521941,essv2565945,essv2532591,essv2567984,essv2541648,essv2569887,essv2559252,essv2578316,essv2573016,essv2555611,essv2527598,essv2557597,essv2531445,essv2573528,essv2543256,essv2577188 M 157 30 0 Samples from several populations that are part of the HapMap project. ERBB4 NA11830,NA11994,NA12717,NA12815,NA12872,NA18504,NA18526,NA18542,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18571,NA18572,NA18576,NA18577,NA18592,NA18593,NA18638,NA18940,NA18942,NA18945,NA18952,NA18953,NA18961,NA18964,NA18965,NA18970 nsv470513 2 212560914 212583073 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547288 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERBB4 HGDP00893 dgv4426n71 2 212560914 212677805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875803,nsv875798 M 6533 0 2 ERBB4 IS34909,IS36337 nsv875799 2 212564784 212583073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555987 S 6533 0 1 ERBB4 MS21737 nsv875800 2 212564784 212604816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582922 S 6533 0 1 ERBB4 IS36219 nsv875801 2 212564784 212637259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566984 S 6533 0 1 ERBB4 IS31041 dgv487n27 2 212569086 212599646 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460072,nsv460071 M 1557 0 2 ERBB4 HGDP00090,HGDP00952 dgv4427n71 2 212575536 212712848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875804,nsv875802 M 6533 0 2 ERBB4 IS34440,MS21771 nsv875805 2 212599646 212873082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529006 S 6533 1 0 ERBB4 SP81417 nsv507066 2 212637271 212643271 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620746,nssv622838,nssv617582 M 4 3 0 ERBB4 CHM,NA15510,NA18994 nsv875806 2 212705269 212919312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595209 S 6533 0 1 ERBB4 IS40169 nsv875807 2 212762303 212811966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523010 S 6533 0 1 ERBB4 SP53560 nsv460074 2 212822890 212859475 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536699 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERBB4 HGDP01238 nsv834526 2 212823146 212945391 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442505 S 95 1 0 ERBB4 nsv834527 2 212824211 213042553 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442507 S 95 0 1 ERBB4,MIR548F2 dgv488n27 2 212828768 212873492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460077,nsv460076 M 1557 0 2 ERBB4 HGDP00752,HGDP01213 dgv4428n71 2 212828768 212909165 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875808,nsv875810 M 6533 0 2 ERBB4 IS30378,IS30532 nsv875809 2 212830963 212929356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577414 S 6533 0 1 ERBB4 IS34440 nsv460079 2 212844992 212917904 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536702 S 1557 0 1 ERBB4 1780862001_A dgv489n27 2 212859475 212899634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460080,nsv460081,nsv460082 M 1557 0 3 ERBB4 HGDP00518,HGDP00572,HGDP01362 nsv527162 2 212863779 212900293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703556 S 2026 0 1 ERBB4 nsv818109 2 212873082 212877435 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415881 S 112 1 0 ERBB4 NA11994 dgv490n27 2 212873082 212900905 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460083,nsv460085,nsv460087,nsv460088 M 1557 0 4 ERBB4 HGDP00082,HGDP00125,HGDP00157,HGDP00189 dgv491n27 2 212873082 212917904 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460086,nsv460089 M 1557 0 2 ERBB4 NINDS_10,NINDS_103 nsv519556 2 212873438 212877435 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696918 S 2026 1 0 ERBB4 esv273888 2 212874580 212874962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580243,essv2580413,essv2579925 M 7 3 0 Samples from several populations that are part of the HapMap project. ERBB4 NA12878,NA12891,NA12892 esv269110 2 212874652 212874977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542342,essv2550340,essv2544271,essv2558476,essv2577728,essv2539977,essv2578822,essv2569824,essv2566999,essv2539392,essv2534090,essv2530142,essv2543193,essv2529716,essv2572911,essv2545142,essv2549794,essv2571160,essv2563348 M 157 19 0 Samples from several populations that are part of the HapMap project. ERBB4 NA10847,NA11919,NA12234,NA12414,NA12750,NA12761,NA18489,NA18510,NA18520,NA18853,NA18912,NA18916,NA18949,NA18965,NA19093,NA19143,NA19172,NA19225,NA19238 esv988519 2 212874667 212874667 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568564 S 3 1 0 ERBB4 HuRef esv1345178 2 212874682 212874682 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995163 S 2 1 0 ERBB4 HuRef esv271063 2 212876331 212876656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510277,essv2510144,essv2511044,essv2511468,essv2513153,essv2495341,essv2503403,essv2508369,essv2501167,essv2509055,essv2508730,essv2497318,essv2500597,essv2501624,essv2498607,essv2507278,essv2493970,essv2504807,essv2506976,essv2498738 M 157 20 0 Samples from several populations that are part of the HapMap project. ERBB4 NA10851,NA11829,NA11831,NA11920,NA12249,NA12287,NA12716,NA12749,NA18516,NA18522,NA18532,NA18545,NA18571,NA18608,NA18858,NA18870,NA18871,NA19099,NA19102,NA19138 nsv10218 2 212891654 212900905 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27923,nssv28616,nssv28461 M 31 0 3 Samples from several populations that are part of the HapMap project. ERBB4 NA07029,NA11830,NA12872 dgv29n50 2 212891707 212900443 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511835,nsv511166 M 1 0 1 ERBB4 1 nsv818110 2 212891941 212899634 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417972,nssv1417973 M 112 0 2 ERBB4 NA07348,NA07357 nsv516174 2 212891941 212900905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683435,nssv680616,nssv680913,nssv663189,nssv652586,nssv669530,nssv683710,nssv664286,nssv664526,nssv681756,nssv668880,nssv686293,nssv664200,nssv677193,nssv660592,nssv673185,nssv678847,nssv663105,nssv657205,nssv659501,nssv691331,nssv693547,nssv669278,nssv654778,nssv685165,nssv653618,nssv685118,nssv685097,nssv668923,nssv652535,nssv667598,nssv688957,nssv684832,nssv672444,nssv670005,nssv691111,nssv683521,nssv676689,nssv676326,nssv692516,nssv652247,nssv678882,nssv684886,nssv681973,nssv673478,nssv658595,nssv686358,nssv659453,nssv684718,nssv680243,nssv656054,nssv655842,nssv669117,nssv655264,nssv669598,nssv692209,nssv653506,nssv683416,nssv655555,nssv686914,nssv655827,nssv662296,nssv653825,nssv688007,nssv658255,nssv671546,nssv653117,nssv658948,nssv655527,nssv668132,nssv653409,nssv671264,nssv673052,nssv694592,nssv691674,nssv665689,nssv676519,nssv656097,nssv665335,nssv654054,nssv681530,nssv692357,nssv660612,nssv653190,nssv667050,nssv660512,nssv683191,nssv671609,nssv683494,nssv657742,nssv688396,nssv655238,nssv656589,nssv657382,nssv656305,nssv659247,nssv679230,nssv659662,nssv659821,nssv674217,nssv659939,nssv684196,nssv667655,nssv685268,nssv666103,nssv658611,nssv666758,nssv654626,nssv692631,nssv661931,nssv676908,nssv684102,nssv653258,nssv682437,nssv684010,nssv662427,nssv668385,nssv673674,nssv662560,nssv682865,nssv655506,nssv651888,nssv683539,nssv676795,nssv677813,nssv692095,nssv671918,nssv681283,nssv681644,nssv676340,nssv691586 M 2026 0 131 ERBB4 esv29362 2 212892198 212900247 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13394 S 451 0 1 ERBB4 NA12776 esv33432 2 212892913 212899861 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94377,essv95680,essv95549,essv99031,essv96080,essv96539,essv96388 M 51 0 7 ERBB4 21808,21841,21847,21938,22007,22261,22371 esv2422123 2 212894596 212900293 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5014813,essv5043584,essv5051190,essv5095535,essv5046857,essv5116206,essv5026835,essv5154573,essv5002218,essv5141815,essv5149633,essv5079400,essv5058187,essv5102393,essv5142061,essv5157367,essv5008967,essv5152934,essv5023817,essv5037391,essv5108350,essv5018027,essv5092872,essv5046756,essv5092523,essv5026915,essv5082149,essv5093342,essv5069760,essv5153394,essv5034750,essv5064539,essv5062800,essv5065147,essv5014236,essv5127059,essv5137962,essv5006148,essv5067366,essv5027575,essv5149715,essv5107765,essv5056099,essv5089154,essv5043995 M 1184 0 45 ERBB4 NA06986,NA06994,NA06995,NA06997,NA07000,NA07029,NA07348,NA07357,NA07435,NA10830,NA10837,NA10856,NA11830,NA12145,NA12154,NA12272,NA12282,NA12335,NA12340,NA12776,NA12814,NA12864,NA12872,NA19900,NA20279,NA20506,NA20524,NA20544,NA20582,NA20765,NA20846,NA20849,NA20852,NA20861,NA20873,NA20884,NA20894,NA20895,NA20903,NA21086,NA21090,NA21105,NA21116,NA21137,NA21143 nsv514117 2 212894768 212899968 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627364 S 1414 0 1 ERBB4 nsv442848 2 212894794 212900057 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ERBB4 nsv818113 2 212895279 212899634 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417004,nssv1417003,nssv1418537,nssv1417007,nssv1418538 M 112 0 5 ERBB4 NA06994,NA07000,NA07029,NA10830,NA12154 dgv1286e1 2 212895448 212898239 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22604,essv20737 M 271 0 0 ERBB4 NA07357,NA12154 dgv1287e1 2 212895448 212901669 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21619,essv18876,essv20446,esv910,essv21940,essv19808,essv21468 M 271 0 0 ERBB4 NA06994,NA07000,NA07029,NA07348,NA10830,NA12864 nsv214237 2 212904028 212904028 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232815 M 24 ERBB4 nsv875811 2 212909165 213055349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578731 S 6533 0 1 ERBB4,MIR548F2 IS34896 nsv3149 2 212912527 212957211 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7612 S 9 0 1 ERBB4 NA12156 esv34076 2 213006821 213014872 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ERBB4 esv29110 2 213078490 213079158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11050 S 451 0 2 ERBB4 NA07045,NA11894 nsv875812 2 213103752 213143101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500596 S 6533 1 0 ERBB4 SP50084 esv1432097 2 213122149 213122149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875584 S 2 1 0 "" HuRef esv1615503 2 213164240 213164292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731869 S 2 0 1 "" HuRef nsv524959 2 213177058 213180879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700980 S 2026 0 1 "" nsv875813 2 213188882 213218054 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499404 S 6533 1 0 "" SP50084 esv2520194 2 213237954 213239427 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283155 S 1 0 1 "" NA18507 esv1969588 2 213238493 213238928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939841 S 1 0 1 "" NA18507 nsv213718 2 213238713 213238849 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232296 M 24 "" esv268620 2 213266290 213267207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500472,essv2503316,essv2513018,essv2508225,essv2504497,essv2506310,essv2502437,essv2495964,essv2495159 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18542,NA18547,NA18561,NA18563,NA18566,NA18948,NA18961,NA18964 nsv519804 2 213271317 213278510 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697060 S 2026 1 0 "" nsv460093 2 213271317 213318604 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536713 S 1557 1 0 "" NINDS_98 esv2650475 2 213282125 213283684 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334659 S 1 0 1 "" NA18507 esv2095937 2 213282722 213283429 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739293 S 1 0 1 "" NA18507 esv2828 2 213282835 213283378 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25269 S 1 0 1 Single Asian sample YH "" YH dgv78n6 2 213282917 213283237 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv213617,nsv215336 M 24 "" esv1003058 2 213282927 213283232 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579162 S 3 0 1 "" HuRef esv2488921 2 213282930 213283235 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245972 S 1 0 1 "" NA18507 nsv215266 2 213336564 213336633 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233844 M 24 "" nsv520544 2 213339266 213352047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686138,nssv672352 M 2026 0 2 "" nsv834528 2 213372433 213587306 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442508 S 95 0 1 IKZF2,MIR4776-1,MIR4776-2 nsv3150 2 213382477 213414242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6898 S 9 1 0 "" NA12156 nsv523532 2 213435185 213436626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699307 S 2026 0 1 "" nsv527398 2 213455662 213456261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703833 S 2026 0 1 "" nsv834529 2 213459213 213666639 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442509,nssv1442511,nssv1442512,nssv1442510,nssv1442513 M 95 5 0 IKZF2,MIR4776-1,MIR4776-2 esv267806 2 213467816 213467901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518530 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv521474 2 213492705 213502999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698085 S 2026 1 0 MIR4776-1,MIR4776-2 nsv517070 2 213561500 213579954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681376,nssv656007,nssv670006,nssv657843,nssv678459,nssv689092,nssv654388,nssv681082,nssv660834,nssv686839,nssv688189,nssv656783,nssv660437,nssv693745,nssv668848,nssv692709,nssv656437,nssv682882,nssv665729,nssv660127,nssv701255,nssv685599,nssv660690,nssv661277,nssv670677,nssv660994,nssv678096,nssv693636,nssv691227,nssv675311,nssv678687,nssv663893,nssv656803,nssv675091,nssv693409,nssv667599,nssv670244,nssv688450,nssv692210,nssv689975,nssv692732,nssv679541,nssv673186,nssv664950,nssv699695,nssv678511,nssv691504,nssv652510,nssv686915,nssv688638,nssv673164,nssv682807,nssv658326,nssv657252,nssv667900,nssv686622,nssv684361,nssv656336,nssv674200,nssv668955,nssv663650,nssv680149,nssv662886,nssv663577,nssv672529,nssv674778,nssv653955,nssv692061,nssv666129,nssv693782,nssv653902,nssv682133,nssv672926,nssv682602,nssv661069,nssv671492,nssv657665,nssv658015,nssv692687,nssv661323,nssv666320,nssv692470,nssv681645,nssv668493,nssv658230,nssv655120,nssv688704,nssv690001,nssv677240,nssv684694,nssv693880,nssv671625,nssv691753,nssv692806,nssv665171,nssv689177,nssv660593,nssv690658,nssv669531,nssv680970,nssv672593,nssv661386,nssv653862,nssv653369,nssv669014,nssv684756,nssv691456,nssv666969,nssv659663,nssv691382,nssv685207,nssv653728,nssv677375,nssv667946,nssv676866,nssv682658,nssv658382,nssv692124,nssv670963,nssv681217,nssv676423,nssv684103,nssv690129,nssv674750,nssv672765,nssv656474,nssv655471,nssv680431,nssv693286,nssv664034,nssv659337,nssv690367,nssv664108,nssv665867,nssv654699,nssv674122,nssv692850,nssv677732,nssv665056,nssv678534,nssv673479,nssv669968,nssv690213,nssv656637,nssv665950,nssv675365,nssv680650,nssv665928,nssv678673,nssv661760,nssv688554,nssv683262,nssv662929,nssv675114,nssv694032,nssv662950,nssv674980,nssv652098,nssv682960,nssv662817,nssv666626,nssv671524,nssv677814,nssv684833,nssv673280 M 2026 0 165 IKZF2 nsv213831 2 213563633 213573221 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232409 M 24 IKZF2 esv33156 2 213564183 213564919 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94351,essv96135 M 51 0 2 "" 21808,22007 nsv834530 2 213645888 213813790 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442514 S 95 1 0 IKZF2 dgv4429n71 2 213651879 213757413 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875815,nsv875814,nsv875817 M 6533 0 3 IKZF2 IS30539,IS30899,MS20872 nsv875816 2 213666910 213723990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593614 S 6533 0 1 IKZF2 IS39464 nsv470514 2 213666910 213741775 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547289 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IKZF2 HGDP00892 esv271001 2 213685288 213685638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517019,essv2515500,essv2518620,essv2514911,essv2516500,essv2519380,essv2513747 M 157 7 0 Samples from several populations that are part of the HapMap project. IKZF2 NA07346,NA07347,NA11931,NA12249,NA12287,NA12812,NA12814 dgv4430n71 2 213694940 213757413 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875819,nsv875818 M 6533 0 3 IKZF2 IS30597,IS31306,IS41068 esv27259 2 213694990 213698347 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13374,esv16407,esv14250 M 451 15 0 IKZF2 NA07045,NA12004,NA12044,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18517,NA18909,NA18916,NA19108,NA19114,NA19147 nsv3151 2 213710631 213745555 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4502 S 9 1 0 IKZF2 NA12878 nsv834531 2 213823869 214010488 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442515 S 95 0 1 LOC100130451,SPAG16 nsv875820 2 213834723 213988295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579798 S 6533 0 1 LOC100130451,SPAG16 IS35181 nsv3152 2 213855895 213905661 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3047,nssv10267,nssv6899 M 9 3 0 LOC100130451,SPAG16 NA12156,NA18555,NA18956 nsv508884 2 213872248 213886241 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623361,nssv621185,nssv619299 M 4 3 0 SPAG16 NA10860,NA15510,NA18994 esv1010545 2 213879198 213879479 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565471 S 3 1 0 SPAG16 HuRef esv1335096 2 213879333 213879333 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635327 S 2 1 0 SPAG16 HuRef dgv4431n71 2 213892014 214054641 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875822,nsv875821 M 6533 0 2 SPAG16 SP55460,SP57193 nsv428406 2 213899522 214074098 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454166,nssv454157,nssv454156,nssv454163,nssv454167,nssv454160,nssv454170,nssv454168,nssv454162,nssv454169,nssv454173,nssv454153,nssv454159,nssv454158,nssv454172,nssv454164,nssv454155,nssv454161,nssv454171,nssv454152 M 62 16 4 SPAG16 HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00474,HGDP00984,HGDP01086,HGDP01087,HGDP01089,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225 nsv834532 2 213899522 214074098 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442522,nssv1442521,nssv1442519,nssv1442524,nssv1442527,nssv1442525,nssv1442526,nssv1442528,nssv1442530,nssv1442531,nssv1442533,nssv1442532,nssv1442534,nssv1442535,nssv1442520,nssv1442523,nssv1442516 M 95 17 0 SPAG16 nsv523669 2 213922542 213934830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699471 S 2026 0 1 SPAG16 nsv520985 2 213977962 214034224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697722 S 2026 0 1 SPAG16 nsv834533 2 214009646 214164736 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442536 S 95 1 0 SPAG16 nsv511092 2 214176409 214183033 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622356 S 4 0 0 SPAG16 NA10860 esv4596 2 214215214 214215872 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27037 S 1 0 1 Single Asian sample YH SPAG16 YH esv2238037 2 214215399 214215906 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754990 S 1 0 1 SPAG16 NA18507 esv1286091 2 214215593 214215832 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775719 S 2 0 1 SPAG16 HuRef esv267963 2 214220430 214220847 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496238,essv2507397 M 157 2 0 Samples from several populations that are part of the HapMap project. SPAG16 NA18511,NA18912 nsv527687 2 214281200 214288554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704163 S 2026 0 1 SPAG16 nsv214963 2 214297771 214301845 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233541 M 24 SPAG16 nsv528970 2 214298830 214318697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705669 S 2026 0 1 SPAG16 nsv875823 2 214303101 214414281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567748 S 6533 0 1 SPAG16 IS31145 nsv875824 2 214308537 214473338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541096 S 6533 0 1 SPAG16 MS15199 esv2581361 2 214371812 214373423 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351498 S 1 0 1 SPAG16 NA18507 esv26572 2 214380195 214381084 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16520 S 451 0 1 SPAG16 NA12489 nsv213247 2 214406416 214406416 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231825 M 24 SPAG16 esv1440695 2 214406490 214406490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946089 S 2 1 0 SPAG16 HuRef esv1770635 2 214406545 214406545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948129 S 2 1 0 SPAG16 HuRef dgv4432n71 2 214417370 214575377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875825,nsv875828 M 6533 0 2 SPAG16 IS34805,SP55878 nsv875826 2 214421304 214598879 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499314 S 6533 1 0 SPAG16 SP50084 nsv875827 2 214426629 214473338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518208 S 6533 0 1 SPAG16 SP57472 esv269956 2 214439530 214439739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510773,essv2496454,essv2507283,essv2509318,essv2504811,essv2509496,essv2497477 M 157 7 0 Samples from several populations that are part of the HapMap project. SPAG16 NA18501,NA18510,NA18870,NA18909,NA19099,NA19129,NA19147 nsv508127 2 214469565 214475565 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621539,nssv618562,nssv623887 M 4 0 3 SPAG16 CHM,NA15510,NA18994 esv2421051 2 214483261 214483948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844623 S 1 0 1 SPAG16 NA18507 esv6741 2 214483460 214483777 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29182 S 1 0 1 SPAG16 SJK nsv214436 2 214483462 214483768 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233014 M 24 SPAG16 esv2202966 2 214486356 214486823 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909132 S 1 0 1 SPAG16 NA18507 esv1486943 2 214486572 214486638 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279995 S 2 0 1 SPAG16 HuRef esv995716 2 214486572 214486638 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584680 S 3 0 1 SPAG16 HuRef nsv213260 2 214486576 214486641 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231838 M 24 SPAG16 nsv3153 2 214551404 214584292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6900 S 9 1 0 SPAG16 NA12156 esv2474779 2 214582299 214585077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184201 S 1 0 1 SPAG16 NA18507 esv2144910 2 214582763 214584644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517844 S 1 0 1 SPAG16 NA18507 esv268657 2 214582866 214583202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541964,essv2568900,essv2524059,essv2530420 M 157 4 0 Samples from several populations that are part of the HapMap project. SPAG16 NA18856,NA18861,NA19129,NA19141 nsv821894 2 214582907 214584466 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440938,nssv1434968,nssv1438696,nssv1436461,nssv1428931 M 31 0 5 SPAG16 AK12,NA18542,NA18547,NA18942,NA18969 esv28344 2 214582951 214584088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18545 S 451 0 5 SPAG16 NA12004,NA12489,NA18858,NA18909,NA18916 nsv215392 2 214582951 214584460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233970 M 24 SPAG16 nsv834534 2 214657739 214813261 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442537 S 95 0 1 SPAG16 esv2006955 2 214698809 214699184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712325 S 1 0 1 SPAG16 NA18507 nsv3155 2 214797024 214841960 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7613 S 9 0 1 SPAG16 NA12156 nsv875829 2 214803990 214836272 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517031 S 6533 1 0 SPAG16 SP57045 nsv519662 2 214808080 214817803 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688744,nssv657456 M 2026 2 0 SPAG16 esv2529046 2 214852407 214853674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320613 S 1 0 1 SPAG16 NA18507 esv267863 2 214909854 214910191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565885,essv2575991,essv2540802,essv2571695,essv2546612,essv2521274,essv2526130,essv2542426,essv2522970,essv2543948,essv2568216,essv2545318,essv2523260,essv2531872,essv2577444,essv2570705,essv2548593,essv2521858,essv2576807,essv2550824,essv2525351,essv2535145,essv2554134,essv2552126,essv2520343,essv2547456,essv2529415,essv2558522,essv2578095,essv2553785,essv2559485,essv2565360,essv2576194,essv2563941,essv2530699,essv2561879,essv2537575,essv2528609,essv2546889,essv2527077,essv2562837,essv2523657,essv2552839,essv2542710,essv2540431,essv2564903,essv2561201,essv2539600,essv2549556,essv2519803,essv2559927,essv2522223,essv2566113,essv2531114,essv2532655,essv2567934,essv2528661,essv2567350,essv2541631,essv2569955,essv2553155,essv2535505,essv2572287,essv2542125,essv2527873,essv2562243,essv2578389,essv2555377,essv2567248,essv2566578,essv2530140,essv2573857,essv2527454,essv2534374,essv2573561,essv2543360,essv2536061,essv2537785,essv2548860,essv2533359,essv2554570,essv2547920,essv2525018,essv2563392,essv2558054 M 157 85 0 Samples from several populations that are part of the HapMap project. SPAG16 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18522,NA18532,NA18537,NA18542,NA18550,NA18552,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18856,NA18907,NA18909,NA18940,NA18943,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18964,NA18965 esv272296 2 214909860 214910195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581801,essv2582641,essv2582791 M 7 3 0 Samples from several populations that are part of the HapMap project. SPAG16 NA12878,NA12891,NA12892 esv1554289 2 214909886 214909886 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976304 S 2 1 0 SPAG16 HuRef nsv508128 2 214945190 214951190 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618563,nssv623888,nssv621540 M 4 0 3 SPAG16 CHM,NA15510,NA18994 nsv875830 2 215091527 215147953 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499628 S 6533 1 0 VWC2L SP50084 nsv821895 2 215160663 215161137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425617 S 31 0 1 "" AK4 nsv875831 2 215197842 215297427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550578 S 6533 0 1 "" MS18466 nsv821896 2 215200065 215201963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436462 S 31 0 1 "" NA18542 nsv821897 2 215339394 215340455 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433536 S 31 0 1 BARD1 NA18526 nsv875832 2 215341869 215432795 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499780 S 6533 1 0 BARD1 SP50084 nsv3156 2 215417268 215462368 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7614 S 9 0 1 "" NA12156 esv275170 2 215419864 215424465 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585368 S 1250 0 1 "" esv1008502 2 215430390 215439728 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565393 S 3 0 1 "" HuRef nsv819673 2 215436030 215439627 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419562 S 2 0 1 "" AK1 esv4321 2 215436976 215439129 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26762 S 1 0 1 Single Asian sample YH "" YH esv9467 2 215437008 215439088 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31908 S 1 0 1 "" SJK esv25939 2 215437065 215439115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19599,esv19037,esv10896 M 451 0 18 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12878,NA15510,NA18505,NA18523,NA19147 esv1008451 2 215437893 215438736 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587075 S 3 1 0 "" HuRef nsv821899 2 215437893 215438736 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437328,nssv1439569,nssv1438707,nssv1428140,nssv1423253,nssv1422484,nssv1438047,nssv1433537,nssv1429670,nssv1436464,nssv1425076,nssv1424685,nssv1430456,nssv1438698,nssv1426515,nssv1434293,nssv1432706,nssv1440238 M 31 0 18 "" AK10,AK14,AK16,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18999 nsv514118 2 215438096 215438592 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627375 S 1414 0 1 "" esv1009719 2 215438204 215439088 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586770 S 3 1 0 "" HuRef esv2335526 2 215457674 215458251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579140 S 1 0 1 "" NA18507 esv2605762 2 215457880 215458061 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324157 S 1 0 1 "" NA18507 nsv875833 2 215463923 215553556 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499887 S 6533 1 0 ABCA12 SP50084 nsv875834 2 215626034 215659650 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499990 S 6533 1 0 ABCA12 SP50084 nsv875835 2 215670166 215731927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573021 S 6533 1 0 ABCA12 IS33221 nsv516144 2 215717469 215731927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672111,nssv680293,nssv668830,nssv666460 M 2026 0 4 "" nsv875836 2 215718342 215894070 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561491 S 6533 1 0 ATIC MS25038 esv1004183 2 215748187 215753086 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563474 S 3 1 0 "" HuRef nsv834536 2 215749592 215923434 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442539,nssv1442538,nssv1442545,nssv1442544,nssv1442543,nssv1442542,nssv1442541,nssv1442546,nssv1442547 M 95 0 9 ATIC esv269514 2 215791221 215791581 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514607,essv2514947,essv2518194 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12812,NA12872 nsv518469 2 215800928 215821316 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695905 S 2026 0 1 "" nsv819860 2 215922616 215922778 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418548 S 2 0 1 ATIC AK1 esv33472 2 215993876 216003597 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96830 S 51 0 1 FN1 21659 dgv1288e1 2 215999515 216158766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv828,essv13329,essv12662 M 271 0 0 FN1 NA18500 esv34272 2 216026482 216118739 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988111,essv6979148 M 771 0 1 "" NA18500 nsv875837 2 216045052 216077424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500305 S 6533 1 0 "" SP50084 esv34084 2 216083757 216239166 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC646324 esv34189 2 216083757 216444466 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC646324 nsv875838 2 216109844 216157138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500396 S 6533 1 0 "" SP50084 nsv10219 2 216117463 216120049 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29068 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv271228 2 216169760 216169845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513748 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv875839 2 216178601 216236053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499662 S 6533 1 0 LOC646324 SP50084 esv1074873 2 216181348 216181442 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770165 S 2 0 1 "" HuRef esv1157019 2 216181917 216181917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788299 S 2 1 0 "" HuRef esv1068105 2 216181975 216181975 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879515 S 2 1 0 "" HuRef nsv518768 2 216192827 216198327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696218 S 2026 0 1 LOC646324 nsv460094 2 216192827 216211797 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536714 S 1557 0 1 LOC646324 1780862437_A esv271133 2 216218721 216218806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513700 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC646324 NA07347 nsv3157 2 216224833 216244223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7615 S 9 0 1 LOC646324 NA12156 esv2508624 2 216256249 216257137 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344265 S 1 1 0 LOC646324 NA18507 esv270051 2 216256642 216256988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540725,essv2546521,essv2526152,essv2542482,essv2543806,essv2568186,essv2545630,essv2577572,essv2548223,essv2535018,essv2544359,essv2552269,essv2520685,essv2529379,essv2558641,essv2564458,essv2577747,essv2559679,essv2576411,essv2520186,essv2563987,essv2530566,essv2537404,essv2528477,essv2546932,essv2530486,essv2520971,essv2557249,essv2552704,essv2551652,essv2532278,essv2578540,essv2550062,essv2537149,essv2538948,essv2561705,essv2542147,essv2569062,essv2556314,essv2527960,essv2534042,essv2529702,essv2575201,essv2560695,essv2523943,essv2574722,essv2568616,essv2571525,essv2574306,essv2551288,essv2547968,essv2525093,essv2563277 M 157 53 0 Samples from several populations that are part of the HapMap project. LOC646324 NA07347,NA07357,NA10847,NA11831,NA11881,NA11918,NA11919,NA11992,NA11995,NA12003,NA12043,NA12045,NA12249,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12814,NA12815,NA12828,NA12873,NA12878,NA12891,NA12892,NA18486,NA18498,NA18501,NA18502,NA18504,NA18505,NA18510,NA18511,NA18517,NA18519,NA18523,NA18856,NA18861,NA18871,NA18907,NA18916,NA19093,NA19102,NA19116,NA19129,NA19138,NA19147,NA19238,NA19240,NA19257 esv272393 2 216256642 216256988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582095,essv2582535,essv2582784,essv2584264,essv2583336 M 7 5 0 Samples from several populations that are part of the HapMap project. LOC646324 NA12878,NA12891,NA12892,NA19238,NA19240 esv1190327 2 216262050 216262184 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756407 S 2 0 1 LOC646324 HuRef esv1000479 2 216262082 216262215 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585884 S 3 0 1 LOC646324 HuRef nsv875840 2 216265978 216337619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500257 S 6533 1 0 LOC646324 SP50084 nsv524960 2 216279725 216309945 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700981 S 2026 0 1 LOC646324 nsv875841 2 216402306 216453636 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499626 S 6533 1 0 LOC646324 SP50084 esv259470 2 216492646 216492967 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394124,essv2393906,essv2393811,essv2393658,essv2394064 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 esv259996 2 216492657 216492978 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394776,essv2400311,essv2398490,essv2396219,essv2396646,essv2400750,essv2399168,essv2399713,essv2397294,essv2401044,essv2396929,essv2400709,essv2395050,essv2400171,essv2394687,essv2397948,essv2398230,essv2394405,essv2395202,essv2394801,essv2396452,essv2395956,essv2397077 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11881,NA11894,NA12006,NA12414,NA12717,NA12776,NA12828,NA12878,NA12891,NA12892,NA18542,NA18571,NA18608,NA18870,NA18907,NA18909,NA18943,NA19108,NA19114,NA19138,NA19238,NA19239 esv990621 2 216492751 216492751 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566320 S 3 1 0 "" HuRef esv1041400 2 216492752 216492752 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343685 S 2 1 0 "" HuRef nsv875842 2 216503336 216601882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593954 S 6533 0 1 MREG IS39643 nsv525473 2 216515747 216519952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701601 S 2026 0 1 MREG nsv3158 2 216568987 216603191 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7616 S 9 1 0 MREG NA12156 esv8814 2 216669114 216669182 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31255 S 1 1 0 TMEM169 SJK nsv523434 2 216669766 216677487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699189 S 2026 0 1 TMEM169 nsv460096 2 216677487 216739573 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536716 S 1557 0 1 XRCC5 1780854288_A nsv3159 2 216776614 216822734 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4503,nssv6901 M 9 0 2 PKI55,XRCC5 NA12156,NA12878 esv993613 2 216796817 216802399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563904 S 3 0 1 "" HuRef esv2426130 2 216797580 216801658 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172408 S 1 0 1 "" NA18507 esv2088618 2 216798058 216800920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4523237 S 1 0 1 "" NA18507 nsv511836 2 216798128 216800799 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626492 S 1 0 1 "" 1 esv1695787 2 216798188 216800756 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300849 S 2 0 1 "" HuRef nsv498955 2 216798188 216801357 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585816 S 9 0 1 "" nsv214269 2 216798189 216800756 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232847 M 24 "" esv5628 2 216798192 216800754 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28069 S 1 0 1 "" SJK esv1943994 2 216800837 216801555 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697766 S 1 0 1 "" NA18507 esv7317 2 216801005 216801361 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29758 S 1 0 1 "" SJK esv1588457 2 216801054 216801371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953664 S 2 0 1 "" HuRef nsv507067 2 216832465 216838465 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617583,nssv621685,nssv622839,nssv620747 M 4 4 0 MARCH4 CHM,NA10860,NA15510,NA18994 nsv834537 2 216839142 217021608 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442548 S 95 0 1 MARCH4,SMARCAL1 nsv875843 2 216855159 216900250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499311 S 6533 1 0 MARCH4 SP50084 nsv875844 2 216856955 216960363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527759 S 6533 1 0 MARCH4 SP80968 esv1006636 2 216866591 216866971 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567900 S 3 0 1 MARCH4 HuRef nsv3160 2 216900800 216945434 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7617 S 9 0 1 MARCH4 NA12156 nsv875845 2 216942053 216997658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499893 S 6533 1 0 MARCH4,SMARCAL1 SP50084 esv1637642 2 216955752 216955752 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358570 S 2 1 0 "" HuRef nsv524480 2 216983696 216997760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700418 S 2026 0 1 SMARCAL1 nsv875846 2 216986268 217037429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527760 S 6533 1 0 SMARCAL1 SP80968 nsv3161 2 217025341 217059572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7618 S 9 1 0 SMARCAL1 NA12156 nsv821900 2 217086945 217088115 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427379 S 31 0 1 "" AK8 nsv460098 2 217233488 217266980 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536717 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGFBP2,IGFBP5 HGDP00551 nsv522718 2 217258774 217266980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698348 S 2026 0 1 IGFBP5 nsv214865 2 217339135 217339135 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233443 M 24 "" nsv460099 2 217346130 217365347 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536718 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01023 esv7208 2 217373956 217374024 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29649 S 1 1 0 "" SJK nsv3162 2 217468741 217501591 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4504 S 9 1 0 "" NA12878 nsv528708 2 217510055 217512001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705356 S 2026 0 1 "" dgv4433n71 2 217518747 217569487 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875847,nsv875849,nsv875848 M 6533 3 0 "" IS33188,IS33460,IS37294 nsv470515 2 217530158 217569487 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547291 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00062 nsv460100 2 217530158 217572846 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536719 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00062 nsv834538 2 217608618 217823291 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442549 S 95 1 0 "" esv24555 2 217647674 217650048 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12596 S 451 0 2 "" NA18508,NA18907 nsv821901 2 217664087 217665460 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429671 S 31 0 1 "" AK14 esv22129 2 217664224 217665510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18462 S 451 0 10 "" NA11993,NA12006,NA12878,NA18502,NA18861,NA18909,NA19099,NA19129,NA19147,NA19257 nsv834539 2 217709277 217896643 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442550 S 95 1 0 DIRC3 nsv875850 2 217731258 217781637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499564 S 6533 1 0 "" SP50084 nsv529041 2 217737642 217781637 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705754 S 2026 1 0 "" esv270694 2 217888978 217889307 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558185,essv2565811,essv2575864,essv2571764,essv2546469,essv2521350,essv2526249,essv2542551,essv2536412,essv2522844,essv2544193,essv2556642,essv2568343,essv2545640,essv2523464,essv2577364,essv2570587,essv2548487,essv2521668,essv2576834,essv2550689,essv2525414,essv2535027,essv2553982,essv2520455,essv2547320,essv2558659,essv2564328,essv2577708,essv2565502,essv2576424,essv2520151,essv2563975,essv2554829,essv2562089,essv2537188,essv2528623,essv2546717,essv2539997,essv2520962,essv2556973,essv2552357,essv2551926,essv2532289,essv2569322,essv2578735,essv2550108,essv2527333,essv2561557,essv2544837,essv2563070,essv2523734,essv2552923,essv2524488,essv2534554,essv2561117,essv2539535,essv2519878,essv2560125,essv2521943,essv2566142,essv2531024,essv2532504,essv2567961,essv2528837,essv2567392,essv2541748,essv2570186,essv2553452,essv2535893,essv2572497,essv2559029,essv2566794,essv2551149,essv2569007,essv2543610,essv2527962,essv2539406,essv2578198,essv2555389,essv2533747,essv2566412,essv2530113,essv2574057,essv2556116,essv2534464,essv2522574,essv2531429,essv2573437,essv2543108,essv2573273,essv2577121,essv2525752,essv2527008,essv2575277,essv2526601,essv2524051,essv2572853,essv2568799,essv2545059,essv2549762,essv2571329,essv2574335,essv2536244,essv2538096,essv2548798,essv2533006,essv2554483,essv2547838,essv2524915,essv2563524 M 157 111 0 Samples from several populations that are part of the HapMap project. DIRC3 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18555,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18907,NA18912,NA18940,NA18943,NA18944,NA18948,NA18949,NA18951,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18980,NA19005,NA19102,NA19114,NA19129,NA19143,NA19147,NA19172,NA19225,NA19238,NA19240 esv274558 2 217888981 217889308 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582120,essv2582745,essv2583040,essv2584345,essv2583658 M 7 5 0 Samples from several populations that are part of the HapMap project. DIRC3 NA12878,NA12891,NA12892,NA19238,NA19240 esv1580867 2 217889017 217889017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739319 S 2 1 0 DIRC3 HuRef esv274296 2 217921867 217922204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581165 S 7 1 0 Samples from several populations that are part of the HapMap project. DIRC3 NA19240 nsv460101 2 217925863 218082311 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536720 S 1557 0 1 DIRC3 1782681219_A nsv508129 2 217949718 217955718 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623889,nssv621541,nssv622016,nssv618564 M 4 0 4 DIRC3 CHM,NA10860,NA15510,NA18994 esv269834 2 217973303 217973646 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514064,essv2518674,essv2516548,essv2514241,essv2516173,essv2517325,essv2515255,essv2518423 M 157 8 0 Samples from several populations that are part of the HapMap project. DIRC3 NA12043,NA12045,NA12814,NA12874,NA12891,NA18970,NA19238,NA19240 esv273846 2 217973308 217973641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582733,essv2584258,essv2583677 M 7 3 0 Samples from several populations that are part of the HapMap project. DIRC3 NA12891,NA19238,NA19240 esv2450238 2 218030100 218030390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284262 S 1 0 1 DIRC3 NA18507 nsv523924 2 218118260 218122227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699769 S 2026 0 1 DIRC3 nsv834540 2 218172823 218349800 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442552 S 95 1 0 DIRC3 nsv527935 2 218188475 218252137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704443 S 2026 0 1 DIRC3 esv1156929 2 218221621 218221621 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721420 S 2 1 0 DIRC3 HuRef esv993506 2 218325665 218325720 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571890 S 3 0 1 DIRC3 HuRef nsv460102 2 218361192 218383444 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536721 S 1557 0 1 TNS1 1780862226_A esv2495817 2 218378193 218378852 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287549 S 1 1 0 TNS1 NA18507 esv2229410 2 218381990 218382578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658821 S 1 0 1 TNS1 NA18507 nsv470517 2 218382729 218433725 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547292 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TNS1 HGDP00978 nsv460103 2 218396841 218422931 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536722 S 1557 0 1 TNS1 NINDS_50 nsv834541 2 218411280 218624996 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442553 S 95 0 1 RUFY4,TNS1 nsv528835 2 218422931 218428287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705511 S 2026 0 1 TNS1 nsv875851 2 218422931 218502228 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499241 S 6533 1 0 TNS1 SP50084 nsv527822 2 218428287 218428916 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704317 S 2026 0 1 TNS1 dgv4434n71 2 218491065 218545338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875853,nsv875852 M 6533 0 2 TNS1 MS16153,MS17208 esv1006594 2 218491878 218496908 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565318 S 3 0 1 TNS1 HuRef nsv521135 2 218529831 218532695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697808 S 2026 0 1 "" esv992361 2 218543233 218548034 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564578 S 3 0 1 "" HuRef nsv3163 2 218578530 218611614 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7619 S 9 1 0 RUFY4 NA12156 esv2338014 2 218603895 218604340 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889618 S 1 0 1 "" NA18507 esv2566274 2 218604198 218604329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300094 S 1 0 1 "" NA18507 nsv512786 2 218655714 218656070 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625418 S 1 1 0 RUFY4 1 esv2494137 2 218655759 218656293 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189351 S 1 1 0 RUFY4 NA18507 nsv3164 2 218729172 218760489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11029 S 9 1 0 CXCR1 NA15510 esv27852 2 218734111 218735457 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16172 S 451 0 1 "" NA19099 nsv875854 2 218854667 218910728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500000 S 6533 1 0 PNKD,TMBIM1 SP50084 nsv519829 2 218859462 218976025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697073 S 2026 0 1 C2orf62,CTDSP1,MIR26B,PNKD,SLC11A1,TMBIM1 nsv875855 2 218922884 218974448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546505 S 6533 0 1 C2orf62,CTDSP1,SLC11A1 MS17208 nsv3166 2 218944732 218978150 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1570 S 9 1 0 CTDSP1,MIR26B,SLC11A1 NA19240 dgv4435n71 2 218960621 218986874 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875857,nsv875856,nsv875859 M 6533 0 3 CTDSP1,MIR26B,SLC11A1 SP50159,SP54956,SP55021 nsv875858 2 218965932 218977342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505930 S 6533 0 1 CTDSP1,MIR26B,SLC11A1 SP54043 nsv875860 2 218972351 218986874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510668 S 6533 0 1 CTDSP1,MIR26B SP54988 esv1009419 2 219006455 219014796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564586 S 3 0 1 VIL1 HuRef nsv508199 2 219071833 219121875 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620201 S 4 0 1 USP37 NA15510 nsv3167 2 219078486 219111241 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5848 S 9 1 0 USP37 NA19129 nsv3168 2 219109716 219155245 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6903 S 9 0 1 RQCD1,USP37 NA12156 esv2518247 2 219130411 219131257 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378376 S 1 1 0 USP37 NA18507 esv1137385 2 219130660 219130660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012159 S 2 1 0 USP37 HuRef nsv875861 2 219132608 219147559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499654 S 6533 1 0 RQCD1,USP37 SP50084 nsv875862 2 219186437 219263506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500412 S 6533 1 0 BCS1L,PLCD4,RNF25,STK36,ZNF142 SP50084 esv33891 2 219251514 219251693 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101319,essv93020,essv101658,essv96610 M 51 0 4 STK36 21805,21863,21909,22011 esv270386 2 219284815 219285154 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514563,essv2519257,essv2516991,essv2514179,essv2515459,essv2518144,essv2515871,essv2517843,essv2516233,essv2516862 M 157 10 0 Samples from several populations that are part of the HapMap project. TTLL4 NA11840,NA11894,NA11931,NA12043,NA12249,NA12872,NA12873,NA12878,NA12891,NA12892 esv272187 2 219284820 219285149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581711,essv2582713,essv2582962 M 7 3 0 Samples from several populations that are part of the HapMap project. TTLL4 NA12878,NA12891,NA12892 nsv875863 2 219292102 219377057 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500095 S 6533 1 0 CYP27A1,TTLL4 SP50084 nsv518750 2 219324212 219377619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696199 S 2026 0 1 CYP27A1,TTLL4 nsv528407 2 219395841 219406248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704999 S 2026 0 1 PRKAG3 nsv875864 2 219411542 219471544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509781 S 6533 0 1 WNT10A,WNT6 SP54956 nsv834542 2 219414247 219586928 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442554 S 95 1 0 CCDC108,CDK5R2,CRYBA2,FEV,LOC151300,MIR375,WNT10A,WNT6 nsv512787 2 219419076 219420299 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625419 S 1 1 0 "" 1 esv1198183 2 219419781 219419781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860096 S 2 1 0 "" HuRef dgv4436n71 2 219429434 219469282 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875865,nsv875866 M 6533 0 3 WNT10A,WNT6 SP54725,SP54988,SP55021 nsv875867 2 219442217 219467424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505931 S 6533 0 1 WNT10A,WNT6 SP54043 nsv3169 2 219519721 219551240 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7620 S 9 0 1 CDK5R2,LOC151300 NA12156 esv27617 2 219553207 219554047 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12964 S 451 0 1 "" NA19129 nsv821902 2 219628468 219635137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432707 S 31 1 0 IHH,MIR3131 NA18972 nsv821903 2 219629989 219630453 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427380 S 31 0 1 IHH AK8 nsv214897 2 219640034 219640317 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233475 M 24 "" nsv875868 2 219651048 219781096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500049 S 6533 1 0 CNPPD1,FAM134A,NHEJ1,SLC23A3,ZFAND2B SP50084 esv2546592 2 219675267 219676788 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378305 S 1 0 1 NHEJ1 NA18507 nsv508200 2 219707710 219775141 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622447,nssv618706,nssv617470 M 4 0 3 CNPPD1,FAM134A,NHEJ1,SLC23A3 CHM,NA10860,NA18994 nsv875869 2 219746000 219809031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585804 S 6533 0 1 ABCB6,ANKZF1,ATG9A,CNPPD1,FAM134A,ZFAND2B IS37646 nsv3170 2 219746437 219774865 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4505 S 9 0 1 CNPPD1,FAM134A NA12878 esv1462746 2 219759793 219759793 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656047 S 2 1 0 "" HuRef esv2622436 2 219760130 219765109 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217118 S 1 0 1 "" NA18507 esv989769 2 219760346 219767254 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564109 S 3 0 1 "" HuRef esv28406 2 219760351 219764185 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12918,esv15864,esv12027 M 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821904 2 219760351 219764185 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439570,nssv1427381,nssv1425089,nssv1435757,nssv1428142,nssv1423254,nssv1422486,nssv1438048,nssv1432709,nssv1425621,nssv1424857,nssv1434969,nssv1433538,nssv1421574,nssv1429672,nssv1431189,nssv1437329,nssv1424696,nssv1434294,nssv1430457,nssv1436465,nssv1438718,nssv1440239,nssv1440939,nssv1426516,nssv1428932,nssv1438699 M 31 27 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv2467858 2 219760449 219764655 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392997 S 1 0 1 "" NA18507 esv33122 2 219760483 219762359 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99518 S 51 0 1 "" 22335 nsv436272 2 219760611 219765191 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465970 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv511837 2 219761205 219764812 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626493 S 1 0 1 "" 1 nsv821905 2 219761315 219762530 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431923 S 31 1 0 "" AK20 nsv821201 2 219761436 219764185 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420287 S 1 0 1 "" NA10851 esv996715 2 219761921 219764185 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586244 S 3 0 1 "" HuRef nsv514119 2 219762016 219762384 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627386 S 1414 0 1 "" esv33188 2 219762048 219767455 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101569,essv98742,essv97495,essv101141,essv93839,essv100868,essv96864,essv98247,essv94785,essv101379,essv97049,essv95581,essv95521,essv93143,essv97454,essv101767,essv92941,essv93684,essv96120,essv96582,essv97194,essv99857,essv95931,essv93443,essv99726,essv96529,essv97742,essv100120,essv100557,essv100417,essv98456,essv96249,essv94235 M 51 0 33 "" 21603,21606,21616,21618,21634,21656,21659,21772,21791,21805,21817,21841,21847,21863,21879,21909,21939,21972,22007,22011,22075,22086,22127,22128,22217,22261,22278,22286,22298,22300,22352,22371,22394 nsv875870 2 219765198 219809031 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561189,nssv1582234,nssv1585482,nssv1532972,nssv1590582,nssv1530461,nssv1578377,nssv1567613 M 6533 1 7 ABCB6,ANKZF1,ATG9A,ZFAND2B IS31123,IS34768,IS35867,IS37471,IS38538,MS10311,MS10957,MS24873 esv1000230 2 219777556 219780533 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563610 S 3 0 1 ZFAND2B HuRef nsv834543 2 219799364 219989396 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442555 S 95 0 1 ANKZF1,ATG9A,DNAJB2,DNPEP,GLB1L,MIR153-1,PTPRN,RESP18,STK16,TUBA4A,TUBA4B nsv508885 2 219804191 219906568 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619300 S 4 1 0 ANKZF1,DNAJB2,GLB1L,MIR153-1,PTPRN,RESP18,STK16,TUBA4A,TUBA4B NA10860 nsv820013 2 219806773 219807750 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419142 S 2 0 1 ANKZF1 AK1 nsv527936 2 219843452 219901640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704444 S 2026 0 1 DNAJB2,MIR153-1,PTPRN,RESP18,TUBA4B esv25352 2 219843539 219844013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16576 S 451 0 1 TUBA4B NA18523 esv271296 2 219903594 219903922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512602,essv2496814,essv2494749,essv2509018,essv2507262,essv2501489,essv2512035,essv2498266,essv2502096 M 157 9 0 Samples from several populations that are part of the HapMap project. RESP18 NA18489,NA18498,NA18519,NA18522,NA18870,NA19093,NA19238,NA19240,NA19257 esv272565 2 219903598 219903933 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584286,essv2583769 M 7 2 0 Samples from several populations that are part of the HapMap project. RESP18 NA19238,NA19240 nsv834544 2 219971991 220044450 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442556,nssv1442557 M 95 0 2 DES,SPEG nsv470518 2 219973368 220048784 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547293 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DES,SPEG HGDP00661 nsv520958 2 219977719 220138447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703284,nssv678756,nssv702977,nssv682266 M 2026 0 4 ACCN4,CHPF,DES,GMPPA,MIR3132,OBSL1,SPEG,TMEM198 dgv4437n71 2 219994386 220097599 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875874,nsv875871 M 6533 0 2 ACCN4,DES,GMPPA,SPEG IS33504,MS10769 dgv4438n71 2 219994386 220213509 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875873,nsv875872 M 6533 0 3 ACCN4,CHPF,DES,GMPPA,INHA,MIR3132,OBSL1,SLC4A3,SPEG,STK11IP,TMEM198 IS35484,MS10311,MS18276 nsv508886 2 220003441 220064228 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619301 S 4 1 0 SPEG NA10860 nsv213401 2 220029860 220029927 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231979 M 24 SPEG nsv875875 2 220048784 220138447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531912,nssv1584770 M 6533 0 2 ACCN4,CHPF,GMPPA,MIR3132,OBSL1,SPEG,TMEM198 IS37172,MS10698 nsv875876 2 220072161 220204673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543386 S 6533 0 1 ACCN4,CHPF,GMPPA,INHA,MIR3132,OBSL1,SLC4A3,STK11IP,TMEM198 MS16153 nsv834545 2 220073764 220162108 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442564,nssv1442565,nssv1442563,nssv1442567,nssv1442566,nssv1442560,nssv1442561,nssv1442558,nssv1442559 M 95 0 9 ACCN4,CHPF,GMPPA,INHA,MIR3132,OBSL1,TMEM198 nsv514984 2 220077040 220077424 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628485 S 1414 0 0 GMPPA nsv508887 2 220080039 220183750 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619302 S 4 1 0 ACCN4,CHPF,INHA,MIR3132,OBSL1,STK11IP,TMEM198 NA10860 nsv10220 2 220093194 220095542 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12473 S 31 1 0 Samples from several populations that are part of the HapMap project. ACCN4 NA18972 nsv482056 2 220111913 220116731 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558417 S 1 1 0 CHPF KB1 nsv821906 2 220117775 220120259 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436466 S 31 1 0 TMEM198 NA18542 esv1005415 2 220204212 220210458 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564729 S 3 0 1 SLC4A3 HuRef esv267720 2 220231414 220231499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516582 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv875877 2 220347093 220373983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574164 S 6533 1 0 "" IS33519 nsv3171 2 220396581 220415977 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1571 S 9 1 0 "" NA19240 nsv875878 2 220397828 220502269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522455 S 6533 0 1 MIR4268 SP53131 nsv875879 2 220423456 220480390 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499815 S 6533 1 0 MIR4268 SP50084 esv1965761 2 220456266 220456695 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725126 S 1 0 1 "" NA18507 esv1452858 2 220456480 220456548 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033982 S 2 0 1 "" HuRef nsv507068 2 220507928 220513928 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617584,nssv621686,nssv620748 M 4 3 0 "" CHM,NA10860,NA15510 nsv834547 2 220524165 220691046 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442568,nssv1442569 M 95 2 0 "" nsv3172 2 220528056 220573161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7621 S 9 0 1 "" NA12156 esv29209 2 220530977 220535022 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18814 S 451 0 1 "" NA18505 esv2495359 2 220532393 220532462 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354187 S 1 0 1 "" NA18507 esv271642 2 220644603 220644732 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517118,essv2518506,essv2514977,essv2515570,essv2517551,essv2516224,essv2516905,essv2517286,essv2518903,essv2518249,essv2513703 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12287,NA12812,NA12815,NA12878,NA12891,NA12892,NA18970,NA19239,NA19240 esv272185 2 220644609 220644728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581993,essv2582479,essv2583003,essv2584431,essv2583462 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv2622278 2 220653937 220655371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234658 S 1 0 1 "" NA18507 esv2296546 2 220654359 220655005 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852939 S 1 0 1 "" NA18507 esv27630 2 220668599 220672574 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19317 S 451 0 1 "" NA18916 esv275193 2 220759100 220763202 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585568 S 1250 0 1 "" nsv875880 2 220847781 220916994 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499909 S 6533 1 0 "" SP50084 nsv213330 2 220926276 220931807 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231908 M 24 "" nsv875881 2 220927154 220968302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500444 S 6533 1 0 "" SP50084 nsv875882 2 220928454 220979372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555662,nssv1537816,nssv1540769,nssv1559019,nssv1541048,nssv1543203,nssv1552014 M 6533 0 7 "" MS13379,MS15030,MS15175,MS16095,MS19119,MS21491,MS23685 nsv460107 2 220979372 221009016 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536724 S 1557 0 1 "" NINDS_135 nsv3173 2 220979435 221002353 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3048 S 9 1 0 "" NA18555 esv1002010 2 220984814 220986466 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564067 S 3 1 0 "" HuRef nsv508888 2 220986098 220999664 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623362 S 4 1 0 "" NA18994 esv34013 2 220986970 221224908 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv875883 2 221014478 221065866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499696 S 6533 1 0 "" SP50084 esv6070 2 221054177 221054497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28511 S 1 0 1 "" SJK esv1192840 2 221054181 221054509 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613944 S 2 0 1 "" HuRef esv1240886 2 221096773 221096773 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938592 S 2 1 0 "" HuRef nsv214043 2 221096774 221096774 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232621 M 24 "" esv24463 2 221102520 221104979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10625 S 451 0 2 "" NA19129,NA19240 nsv514120 2 221102816 221104432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627397 S 1414 0 1 "" esv1480582 2 221109846 221109846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228770 S 2 1 0 "" HuRef esv1121755 2 221109859 221109910 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654537 S 2 0 1 "" HuRef dgv4439n71 2 221129510 221245633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875885,nsv875884 M 6533 0 2 "" IS30311,MS11332 nsv820097 2 221165066 221166044 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419144 S 2 0 1 "" AK1 esv271190 2 221211964 221212953 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511039,essv2496688,essv2505514,essv2512222,essv2502889,essv2513216,essv2502983,essv2509866,essv2496558,essv2508976,essv2506068,essv2497741,essv2507913,essv2511367,essv2500633,essv2508402,essv2508599,essv2498390,essv2507271,essv2513427,essv2509234,essv2493128,essv2505412,essv2503702,essv2495932,essv2502624,essv2505675,essv2501227,essv2504664,essv2506561,essv2499095,essv2493558,essv2498872,essv2496997,essv2499847,essv2512176,essv2498179,essv2511568 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11831,NA11894,NA12154,NA12155,NA12156,NA12249,NA18507,NA18508,NA18510,NA18522,NA18523,NA18555,NA18564,NA18570,NA18571,NA18582,NA18592,NA18858,NA18870,NA18907,NA18909,NA18951,NA18952,NA18960,NA18961,NA18965,NA19005,NA19093,NA19099,NA19108,NA19114,NA19137,NA19138,NA19190,NA19225,NA19238,NA19240 esv273777 2 221211967 221212998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580837 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv2517074 2 221213018 221214561 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318010 S 1 0 1 "" NA18507 nsv508130 2 221214310 221220310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618565 S 4 0 1 "" CHM nsv875886 2 221276657 221424359 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500027 S 6533 1 0 "" SP50084 nsv834548 2 221296731 221477144 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442570,nssv1442571 M 95 2 0 "" nsv875887 2 221302741 221481792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519975 S 6533 0 1 "" SP50629 esv2408501 2 221307782 221308152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812808 S 1 0 1 "" NA18507 esv1626689 2 221396571 221396898 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133673 S 2 0 1 "" HuRef esv268341 2 221451430 221451842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493920,essv2497647,essv2502061 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18871,NA19147,NA19257 esv2005308 2 221526722 221527170 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705498 S 1 0 1 "" NA18507 esv1458366 2 221526953 221527018 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009990 S 2 0 1 "" HuRef nsv213947 2 221526954 221527018 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232525 M 24 "" nsv7335 2 221558613 221581630 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1573 S 9 0 0 "" NA19240 esv270994 2 221580056 221580391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497143,essv2507824,essv2512670,essv2502411 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18564,NA18577,NA18948 nsv819925 2 221589945 221591450 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419277 S 2 0 1 "" AK1 esv2987 2 221591184 221591498 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25428 S 1 0 1 Single Asian sample YH "" YH nsv875888 2 221598862 221636096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499244 S 6533 1 0 "" SP50084 esv2618303 2 221652672 221654201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325514 S 1 0 1 "" NA18507 esv1990355 2 221653414 221654089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617847 S 1 0 1 "" NA18507 nsv213652 2 221698243 221705100 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232230 M 24 "" nsv507069 2 221726268 221732268 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621687 S 4 1 0 "" NA10860 nsv518895 2 221729712 221851731 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696354 S 2026 1 0 "" nsv526350 2 221775394 221780422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702642 S 2026 0 1 "" nsv875889 2 221780422 221887111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568985 S 6533 0 1 "" IS31385 nsv523428 2 221794052 221794575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699183 S 2026 0 1 "" nsv875890 2 221888108 221918456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499569 S 6533 1 0 "" SP50084 nsv215290 2 221910495 221910561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233868 M 24 "" nsv528051 2 221937630 221942425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704584 S 2026 0 1 "" esv2625074 2 221937850 221942821 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259460 S 1 0 1 "" NA18507 esv2535463 2 221938429 221941930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237100 S 1 0 1 "" NA18507 nsv820379 2 221938451 221942407 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420288 S 1 0 1 "" NA10851 esv27804 2 221938526 221941971 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16341 S 451 2 12 "" NA06985,NA07045,NA11931,NA11993,NA15510,NA18505,NA18517,NA18909,NA18916,NA19129,NA19190,NA19225,NA19240,NA19257 esv1286692 2 221939933 221941117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303284 S 2 0 1 "" HuRef nsv511838 2 221940406 221941765 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626494 S 1 0 1 "" 1 nsv875891 2 221968993 221992521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499896 S 6533 1 0 EPHA4 SP50084 nsv3174 2 222035315 222068540 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2313 S 9 1 0 EPHA4 NA18555 essv11476 2 222062296 222110348 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. EPHA4 NA18856 dgv1289e1 2 222062296 222206428 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv551,essv17339,essv11445 M 271 0 0 EPHA4 NA18856,NA18857 nsv428407 2 222070399 222206428 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454174 S 62 0 1 EPHA4 NA19096 nsv818114 2 222082667 222108467 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416326,nssv1416328 M 112 0 2 EPHA4 NA18856,NA18857 nsv526093 2 222133864 222136115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702340 S 2026 0 1 EPHA4 nsv523949 2 222255527 222259217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699796 S 2026 0 1 "" esv2429446 2 222275869 222277512 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190099 S 1 0 0 "" NA18507 nsv3175 2 222342403 222373972 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2314 S 9 1 0 "" NA18555 esv259432 2 222378778 222379179 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393738,essv2394399 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv259808 2 222378808 222379195 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397609,essv2394732,essv2399289,essv2395962,essv2400452 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA19102,NA19238,NA19240 esv268388 2 222385398 222385699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506049,essv2505267,essv2501477,essv2504865 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18853,NA19093,NA19099 nsv875892 2 222399081 222587777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552244 S 6533 0 1 "" MS19303 esv1035490 2 222433678 222434005 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223830 S 2 0 1 "" HuRef nsv3177 2 222540459 222585184 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7622 S 9 0 1 "" NA12156 nsv3178 2 222601062 222646493 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6904 S 9 0 1 "" NA12156 nsv834549 2 222637171 222813316 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442575,nssv1442574,nssv1442572,nssv1442576 M 95 4 0 PAX3 nsv517079 2 222693183 222713369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653746,nssv675377 M 2026 0 2 "" nsv834550 2 222755908 222928085 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442577 S 95 1 0 CCDC140,PAX3 nsv516764 2 222829918 222832337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670678,nssv681895 M 2026 0 2 PAX3 nsv507070 2 222892889 222898889 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620749,nssv622840,nssv617585,nssv621688 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv528185 2 223047398 223047826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704741 S 2026 0 1 SGPP2 esv275407 2 223057817 223060503 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585795 S 1250 0 1 SGPP2 nsv834551 2 223180211 223349497 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442579,nssv1442578 M 95 1 1 FARSB,MOGAT1 esv2585241 2 223189090 223190768 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167434 S 1 0 1 FARSB NA18507 esv2377277 2 223189758 223190431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815337 S 1 0 1 FARSB NA18507 esv3729 2 223189900 223190327 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26170 S 1 0 1 Single Asian sample YH FARSB YH dgv20e197 2 223189935 223190239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2590048,esv2527281 M 1 0 1 FARSB NA18507 esv1000228 2 223189940 223190228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569744 S 3 0 1 FARSB HuRef esv1232411 2 223189950 223190239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163573 S 2 0 1 FARSB HuRef esv5526 2 223189953 223190223 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27967 S 1 0 1 FARSB SJK esv269856 2 223253366 223253593 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496401,essv2496290,essv2499044 M 157 3 0 Samples from several populations that are part of the HapMap project. MOGAT1 NA18510,NA18511,NA19114 nsv3179 2 223292149 223326238 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3049 S 9 1 0 "" NA18555 nsv3180 2 223327361 223372797 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6905 S 9 0 1 "" NA12156 esv1574551 2 223389769 223389769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324776 S 2 1 0 "" HuRef nsv3181 2 223464105 223507747 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2315,nssv6906 M 9 0 2 ACSL3 NA12156,NA18555 esv2621841 2 223467635 223471336 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315918 S 1 0 1 ACSL3 NA18507 nsv436299 2 223467903 223473927 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465971 S 2 0 1 Samples from several populations that are part of the HapMap project. ACSL3 NA18505 nsv435722 2 223468071 223471928 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465972 S 2 0 1 ACSL3 NA15510 nsv511839 2 223468230 223471432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626495 S 1 0 1 ACSL3 1 esv2151193 2 223468243 223471128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690750 S 1 0 1 ACSL3 NA18507 esv997784 2 223468274 223471592 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565281 S 3 0 1 ACSL3 HuRef esv4072 2 223468384 223471008 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26513 S 1 0 1 Single Asian sample YH ACSL3 YH esv9602 2 223468432 223470920 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32043 S 1 0 1 ACSL3 SJK esv1240242 2 223468435 223470928 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016712 S 2 0 1 ACSL3 HuRef esv2652841 2 223504845 223506419 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373702 S 1 0 1 ACSL3 NA18507 esv3725 2 223505560 223506008 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26166 S 1 0 1 Single Asian sample YH ACSL3 YH esv1617678 2 223505611 223505928 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193700 S 2 0 1 ACSL3 HuRef nsv215259 2 223505612 223505928 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233837 M 24 ACSL3 nsv819092 2 223515385 223516062 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419052 S 2 0 1 ACSL3 AK1 nsv498956 2 223573333 223578123 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585817 S 9 0 1 "" esv24505 2 223573334 223578127 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10671 S 451 0 3 "" NA12006,NA12414,NA19225 nsv514121 2 223573392 223577728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627408 S 1414 0 1 "" esv270502 2 223591094 223591414 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558176,essv2565790,essv2576024,essv2540710,essv2546206,essv2526051,essv2536416,essv2522701,essv2543867,essv2556817,essv2568069,essv2545355,essv2577540,essv2570394,essv2548478,essv2521800,essv2576553,essv2550837,essv2525406,essv2535113,essv2554281,essv2552131,essv2520294,essv2547158,essv2558653,essv2564563,essv2559598,essv2564101,essv2554886,essv2561975,essv2537433,essv2528490,essv2546637,essv2540105,essv2520757,essv2556899,essv2532118,essv2562573,essv2569422,essv2550066,essv2558828,essv2539067,essv2527098,essv2561531,essv2563035,essv2523748,essv2552844,essv2542948,essv2540451,essv2524687,essv2565098,essv2561106,essv2539576,essv2549432,essv2519514,essv2559897,essv2522014,essv2566235,essv2531043,essv2528753,essv2567512,essv2541548,essv2570053,essv2563574,essv2553277,essv2535820,essv2559209,essv2542116,essv2568864,essv2543579,essv2527941,essv2539418,essv2533904,essv2578370,essv2573232,essv2555387,essv2533546,essv2566519,essv2574037,essv2557741,essv2555884,essv2522552,essv2573354,essv2572164,essv2525596,essv2529718,essv2575725,essv2575098,essv2538716,essv2524038,essv2560832,essv2574625,essv2530372,essv2572669,essv2560391,essv2571386,essv2545908,essv2574435,essv2536274,essv2549106,essv2533051,essv2554493,essv2547938,essv2525083,essv2563512 M 157 105 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11918,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12776,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18505,NA18507,NA18508,NA18511,NA18516,NA18519,NA18522,NA18523,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18861,NA18870,NA18907,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18948,NA18951,NA18953,NA18956,NA18960,NA18964,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19129,NA19137,NA19138,NA19141,NA19143,NA19190,NA19238,NA19239,NA19240 esv273326 2 223591095 223591413 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581866,essv2582632,essv2583027,essv2584003,essv2584670,essv2583779 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1178625 2 223591128 223591128 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689001 S 2 1 0 "" HuRef esv28798 2 223655589 223656070 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17747 S 451 1 0 "" NA18523 nsv875893 2 223714976 223736754 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499338 S 6533 1 0 "" SP50084 esv25864 2 223739301 223739918 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12472 S 451 1 0 "" NA12749 esv2259854 2 223739326 223739749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521625 S 1 0 1 "" NA18507 esv1918936 2 223835054 223835476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974617 S 1 0 1 "" NA18507 esv270512 2 223884257 223884342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514691,essv2514026,essv2514815,essv2518474,essv2515654,essv2515945 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12043,NA12234,NA12287,NA12815,NA12873 esv1014611 2 223884294 223884294 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867512 S 2 1 0 "" HuRef esv268855 2 223891418 223891503 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518988 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv834552 2 223943436 224105407 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442580 S 95 1 0 "" nsv515594 2 223948927 223951685 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664035,nssv685182 M 2026 0 2 "" esv269330 2 223967734 223967819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518464 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv875894 2 223976228 224029784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499470 S 6533 1 0 "" SP50084 nsv525633 2 224033212 224038089 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701786 S 2026 1 0 "" nsv834553 2 224063374 224206046 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442581 S 95 1 0 SCG2 nsv834554 2 224200452 224386879 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442582 S 95 0 1 AP1S3 esv2601538 2 224209432 224209840 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389470 S 1 0 1 "" NA18507 nsv3182 2 224252270 224297772 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6907 S 9 0 1 "" NA12156 nsv460108 2 224253062 224324400 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536725 S 1557 0 1 "" 1780854517_A nsv875895 2 224257389 224289687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506285,nssv1513357 M 6533 0 2 "" SP54173,SP55748 nsv875896 2 224284646 224318476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499807 S 6533 1 0 "" SP50084 nsv3183 2 224296868 224331867 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1574 S 9 1 0 AP1S3 NA19240 nsv834555 2 224301092 224460665 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442583 S 95 0 1 AP1S3,WDFY1 nsv214713 2 224319959 224319959 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233291 M 24 "" nsv214769 2 224459707 224464343 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233347 M 24 WDFY1 nsv875897 2 224479024 224527714 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499274 S 6533 1 0 WDFY1 SP50084 nsv511173 2 224537220 224543613 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626255 S 1 0 1 MRPL44 1 esv23414 2 224542302 224542782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20561 S 451 0 1 "" NA12828 nsv875898 2 224581934 224633365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499364 S 6533 1 0 SERPINE2 SP50084 nsv213199 2 224592727 224599367 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231777 M 24 SERPINE2 esv275577 2 224633970 224639069 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585485,essv2585279 M 1250 1 1 "" nsv875899 2 224659810 224695337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499910 S 6533 1 0 "" SP50084 nsv875900 2 224718873 224745725 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500012 S 6533 1 0 "" SP50084 nsv875901 2 224778403 224847175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499475 S 6533 1 0 "" SP50084 esv274563 2 224822276 224822736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579284 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv875902 2 224877256 224943770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583941 S 6533 0 1 "" IS36728 esv24203 2 224942372 224944052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15350 S 451 0 1 "" NA19099 nsv875903 2 224955731 225043839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556730 S 6533 0 1 CUL3,FAM124B MS22146 dgv4440n71 2 224989846 225043839 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875905,nsv875904,nsv875906 M 6533 0 7 CUL3 IS30292,IS35018,IS40890,MS10393,MS19587,MS20030,MS20813 esv267693 2 224991978 224992063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513885 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv2496389 2 225000497 225002715 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382036 S 1 0 1 "" NA18507 esv2438675 2 225000935 225002048 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196818 S 1 0 0 "" NA18507 esv5983 2 225001065 225001258 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28424 S 1 0 0 "" SJK esv2280540 2 225001107 225002285 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790231 S 1 0 1 "" NA18507 esv22572 2 225001197 225002177 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14521 S 451 31 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18916,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv821503 2 225001197 225002177 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420289 S 1 0 1 "" NA10851 nsv215440 2 225001199 225001265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234018 M 24 "" esv1780860 2 225001224 225001326 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907748 S 2 0 0 "" HuRef nsv215441 2 225001268 225002195 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv234019 M 24 "" esv7215 2 225001321 225002212 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29656 S 1 0 0 "" SJK nsv875907 2 225023005 225142689 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499574 S 6533 1 0 CUL3 SP50084 nsv875908 2 225035816 225105414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507955,nssv1517339 M 6533 0 2 CUL3 SP54579,SP57266 nsv875909 2 225049869 225359629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577528 S 6533 1 0 CUL3,DOCK10 IS34482 esv2464203 2 225064376 225065898 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278274 S 1 0 1 CUL3 NA18507 esv2461086 2 225086552 225088007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328021 S 1 0 1 CUL3 NA18507 nsv3184 2 225172687 225202200 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11030 S 9 1 0 "" NA15510 nsv875910 2 225231748 225282894 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514122 S 6533 1 0 "" SP55946 nsv470519 2 225242436 225342937 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547294 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOCK10 HGDP00866 nsv875911 2 225266286 225337718 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499250 S 6533 1 0 "" SP50084 nsv875912 2 225378240 225468222 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499177 S 6533 1 0 DOCK10 SP50084 nsv3185 2 225425224 225431529 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5849 S 9 0 1 DOCK10 NA19129 esv274230 2 225482719 225482830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580680,essv2579418 M 7 2 0 Samples from several populations that are part of the HapMap project. DOCK10 NA19238,NA19240 esv268262 2 225482744 225482849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510112,essv2511012,essv2506789,essv2511462,essv2495247,essv2502301,essv2500206,essv2512442,essv2508080,essv2501723,essv2512248,essv2502898,essv2513149,essv2510341,essv2495847,essv2503371,essv2508512,essv2508376,essv2502494,essv2503787,essv2505058,essv2508901,essv2500308,essv2502813,essv2493745,essv2506165,essv2498336,essv2500424,essv2503306,essv2512994,essv2494626,essv2497224,essv2499853,essv2494459,essv2500121,essv2508683,essv2510049,essv2512868,essv2498585,essv2507050,essv2495680,essv2503093,essv2497965,essv2503520,essv2502442,essv2493080,essv2505386,essv2500582,essv2497427,essv2503698,essv2502712,essv2500785,essv2512804,essv2505579,essv2506518,essv2493542,essv2498907,essv2493834,essv2501989,essv2498137,essv2503661,essv2503912,essv2495028,essv2499527 M 157 64 0 Samples from several populations that are part of the HapMap project. DOCK10 NA06986,NA07037,NA07051,NA07357,NA11829,NA11831,NA11918,NA11920,NA11992,NA12004,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12828,NA12878,NA12891,NA12892,NA18517,NA18523,NA18526,NA18537,NA18542,NA18547,NA18550,NA18552,NA18562,NA18572,NA18573,NA18592,NA18593,NA18609,NA18858,NA18870,NA18916,NA18943,NA18945,NA18947,NA18948,NA18951,NA18952,NA18956,NA18959,NA18960,NA18965,NA18973,NA18980,NA19005,NA19108,NA19137,NA19138,NA19210,NA19239,NA19240 esv8487 2 225482760 225482845 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30928 S 1 1 0 DOCK10 SJK esv1011163 2 225482767 225482767 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578625 S 3 1 0 DOCK10 HuRef nsv508131 2 225520319 225526319 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618566,nssv621542,nssv623890,nssv622018 M 4 0 4 DOCK10 CHM,NA10860,NA15510,NA18994 esv1010048 2 225547758 225547761 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567466 S 3 1 0 DOCK10 HuRef esv4249 2 225591314 225591759 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26690 S 1 0 1 Single Asian sample YH DOCK10 YH esv1631002 2 225591449 225591582 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856509 S 2 0 1 DOCK10 HuRef nsv517969 2 225608939 225617560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695381 S 2026 0 1 DOCK10 esv2506437 2 225747573 225748992 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288547 S 1 0 1 "" NA18507 esv1948503 2 225747644 225748483 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733402 S 1 0 1 "" NA18507 nsv215096 2 225747828 225748298 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233674 M 24 "" nsv526660 2 225891731 225897438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702988 S 2026 0 1 "" nsv834556 2 226089257 226303901 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442585 S 95 0 1 KIAA1486 nsv875913 2 226150743 226223942 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500527 S 6533 1 0 KIAA1486 SP50084 esv25689 2 226161812 226171201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17115 S 451 0 1 KIAA1486 NA19099 esv1558776 2 226185789 226185789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300136 S 2 1 0 KIAA1486 HuRef nsv875914 2 226292206 226380532 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499676 S 6533 1 0 "" SP50084 dgv4441n71 2 226300285 226511945 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875915,nsv875916 M 6533 0 2 "" MS11525,MS19246 nsv875917 2 226300285 226837799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529373 S 6533 0 1 "" SP81513 esv1459564 2 226355451 226355451 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976362 S 2 1 0 "" HuRef nsv508132 2 226356675 226362675 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621543 S 4 0 1 "" NA15510 nsv834559 2 226380079 226523788 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442586,nssv1442587 M 95 0 2 "" esv272786 2 226461895 226462240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580880 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268249 2 226461904 226462248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575831,essv2546203,essv2536707,essv2556534,essv2531683,essv2577612,essv2521793,essv2547302,essv2558608,essv2553532,essv2555180,essv2537675,essv2528275,essv2540146,essv2556869,essv2569500,essv2578613,essv2569658,essv2527210,essv2541331,essv2524463,essv2539714,essv2519708,essv2522153,essv2531129,essv2567560,essv2570272,essv2553481,essv2550976,essv2543732,essv2527969,essv2562395,essv2539495,essv2566465,essv2530010,essv2556113,essv2574764,essv2571352,essv2574264,essv2537766,essv2563112 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA11830,NA11881,NA11920,NA11994,NA12006,NA12043,NA12144,NA12717,NA12750,NA12763,NA12872,NA12878,NA12891,NA18489,NA18501,NA18508,NA18510,NA18520,NA18522,NA18545,NA18555,NA18563,NA18566,NA18571,NA18573,NA18582,NA18593,NA18605,NA18858,NA18870,NA18907,NA18909,NA18912,NA18948,NA18949,NA18956,NA19138,NA19238,NA19240 esv2451391 2 226559186 226562332 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269905 S 1 0 1 "" NA18507 nsv821907 2 226562916 226572652 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421576 S 31 0 1 "" NA18997 nsv213268 2 226633187 226637409 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231846 M 24 "" nsv522037 2 226643473 226644212 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694807 S 2026 0 1 "" esv2290239 2 226663141 226670498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657938 S 1 0 1 "" NA18507 esv24618 2 226663849 226670583 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13017 S 451 0 2 "" NA18502,NA19114 esv2634133 2 226664698 226671410 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324151 S 1 0 1 "" NA18507 nsv441803 2 226665007 226669662 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421822 2 226665007 226669932 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084942,essv5124464,essv5123931,essv5114812,essv5082287,essv5075797,essv5043371,essv5076928,essv5034974,essv5058227,essv5058824,essv5145620,essv5119464,essv5092089,essv5107925,essv5048470,essv5060308,essv5028537,essv5114795,essv5071379,essv5069401,essv5058149,essv5069227,essv5040193,essv5088319,essv5021001,essv5116066,essv5094226,essv5136599,essv5059392,essv5123315,essv5053669,essv5048212,essv5018617,essv5100186,essv5122959,essv5053892,essv5133506,essv5113950,essv5042449,essv5027557,essv5015277 M 1184 0 42 "" NA12718,NA18498,NA18501,NA18507,NA18934,NA18935,NA19035,NA19038,NA19114,NA19116,NA19120,NA19137,NA19139,NA19193,NA19308,NA19346,NA19372,NA19393,NA19403,NA19430,NA19440,NA19625,NA19649,NA19650,NA19716,NA19900,NA19916,NA20279,NA20282,NA20289,NA20290,NA20300,NA20341,NA21297,NA21314,NA21320,NA21367,NA21381,NA21457,NA21493,NA21494,NA21683 esv273525 2 226678298 226678466 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580102,essv2580489,essv2579932,essv2579074,essv2579658 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv269560 2 226678299 226678607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503850,essv2504274,essv2509652,essv2506237,essv2498590,essv2505909,essv2507228,essv2501385,essv2497530,essv2497052,essv2511979,essv2501939,essv2497992 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA12761,NA18505,NA18508,NA18523,NA18858,NA18861,NA18870,NA19093,NA19147,NA19190,NA19238,NA19239,NA19240 esv1009585 2 226686989 226686989 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574606 S 3 1 0 "" HuRef nsv508133 2 226704758 226710758 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621544 S 4 0 1 "" NA15510 esv2627760 2 226708636 226710046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285758 S 1 0 1 "" NA18507 esv1965085 2 226709198 226709746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834159 S 1 0 1 "" NA18507 nsv875918 2 226709230 227076625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557385 S 6533 1 0 "" MS22645 nsv525291 2 226722306 226730280 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701396 S 2026 1 0 "" esv2278504 2 226725613 226726258 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752470 S 1 0 1 "" NA18507 nsv214476 2 226725802 226726050 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233054 M 24 "" nsv508201 2 226858546 226883605 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617471,nssv618707 M 4 0 2 "" CHM,NA10860 nsv526127 2 226859115 227080415 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702379 S 2026 0 1 "" nsv3186 2 226865153 226894746 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10270 S 9 0 1 "" NA18956 esv2899 2 226873374 226879523 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25340 S 1 0 1 Single Asian sample YH "" YH nsv821908 2 226873590 226879310 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424707,nssv1436467,nssv1422487,nssv1437331,nssv1424858 M 31 0 5 "" AK2,NA18542,NA18552,NA18949,NA18968 esv25348 2 226873606 226879267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18172 S 451 0 14 "" NA06985,NA07037,NA11894,NA11993,NA12156,NA12489,NA12749,NA12828,NA18508,NA18523,NA18861,NA18916,NA19099,NA19114 esv997124 2 226873615 226881420 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565164 S 3 0 1 "" HuRef nsv498957 2 226873668 226879416 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585818 S 9 0 1 "" dgv96e180 2 226873692 226879310 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996527,esv1011209 M 3 0 1 "" HuRef nsv514122 2 226873856 226879168 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627419 S 1414 0 1 "" esv8916 2 226886518 226886616 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31357 S 1 1 0 "" SJK nsv3189 2 226894402 226926595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5850 S 9 1 0 "" NA19129 nsv875919 2 227013352 227149643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599833 S 6533 0 1 "" IS41801 esv2641761 2 227021593 227023125 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201975 S 1 0 1 "" NA18507 esv1342752 2 227026347 227026347 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318483 S 2 1 0 "" HuRef esv2620236 2 227041873 227044418 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212984 S 1 0 1 "" NA18507 nsv511840 2 227042081 227044394 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626496 S 1 0 1 "" 1 esv1757068 2 227043974 227044026 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992212 S 2 0 1 "" HuRef esv23653 2 227050691 227055696 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11435 S 451 0 1 "" NA12749 esv2421833 2 227051032 227054312 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5114374,essv5064587,essv5104703,essv5065573,essv5110079,essv5036096,essv5060674,essv5133059,essv5071098,essv5044544,essv5085473,essv5139560,essv5067284,essv5006905,essv5105677 M 1184 0 15 "" NA07345,NA07347,NA07349,NA10854,NA11839,NA11917,NA12739,NA12749,NA19651,NA19663,NA19774,NA19775,NA20281,NA20544,NA20895 nsv441804 2 227051032 227054312 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv460109 2 227051757 227054278 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536726 S 1557 0 1 "" 1780862597_A nsv517221 2 227051757 227054278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690779,nssv662887,nssv673509,nssv678674,nssv654055,nssv667995,nssv676151,nssv689487,nssv679758,nssv688525,nssv654134,nssv672948,nssv689125,nssv688282,nssv652717,nssv668408,nssv692211,nssv657206,nssv683507,nssv659050,nssv656936,nssv693135,nssv682866,nssv673480,nssv658786,nssv673377,nssv673566,nssv653118,nssv687155 M 2026 0 29 "" nsv818115 2 227051757 227054278 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417974 S 112 0 1 "" NA07345 nsv524916 2 227068608 227068690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700928 S 2026 1 0 "" esv27659 2 227155807 227156575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12945 S 451 0 1 "" NA19190 nsv875920 2 227173305 227272269 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500014 S 6533 1 0 "" SP50084 esv273445 2 227181230 227181555 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580225,essv2580316,essv2580726,essv2579420 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv270826 2 227181251 227181575 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522717,essv2568349,essv2576733,essv2558364,essv2576373,essv2568817,essv2546119 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA11995,NA12154,NA12750,NA12814,NA19147,NA19239 nsv528198 2 227190586 227208883 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704758 S 2026 0 1 "" esv260073 2 227229292 227229565 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399046,essv2401111,essv2399208,essv2395564,essv2397820,essv2396469,essv2397438,essv2398866,essv2399428,essv2394402,essv2400808,essv2396984,essv2398341,essv2395181,essv2399517,essv2396349,essv2399696 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12776,NA18501,NA18505,NA18517,NA18566,NA18582,NA18858,NA18943,NA18952,NA18973,NA19093,NA19108,NA19137,NA19138,NA19210 esv1757613 2 227229462 227229462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193095 S 2 1 0 "" HuRef nsv528712 2 227267561 227270383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705362 S 2026 0 1 "" esv33196 2 227282459 227282677 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101146,essv93914,essv96821,essv94711,essv101407,essv94459,essv93025,essv95402,essv101702,essv99044,essv92906,essv96714,essv97098,essv96025,essv99619,essv96476,essv100282,essv100510,essv94245 M 51 19 0 "" 21618,21634,21659,21791,21805,21808,21863,21872,21909,21938,21939,22011,22075,22127,22217,22261,22286,22298,22394 esv2515387 2 227288535 227288987 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298818 S 1 1 0 "" NA18507 nsv3190 2 227339304 227384643 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6908 S 9 0 1 IRS1 NA12156 nsv875921 2 227362192 227380730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508177,nssv1511333,nssv1510670,nssv1509782 M 6533 0 4 IRS1 SP54725,SP54956,SP54988,SP55021 nsv821910 2 227367882 227374163 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432710 S 31 1 0 IRS1 NA18972 nsv3191 2 227536479 227570083 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7623 S 9 1 0 RHBDD1 NA12156 esv25855 2 227616782 227630372 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11270,esv13512 M 451 1 1 COL4A4 NA18508,NA19108 nsv526108 2 227722318 227727029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702356 S 2026 0 1 COL4A4 esv271089 2 227731704 227732053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503416,essv2512959,essv2494520,essv2504623,essv2511548 M 157 5 0 Samples from several populations that are part of the HapMap project. COL4A4 NA07346,NA12716,NA18547,NA18550,NA19099 esv1344671 2 227766958 227767013 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632827 S 2 0 1 COL4A3 HuRef esv1431099 2 227776322 227776322 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894369 S 2 1 0 COL4A3 HuRef esv1219477 2 227776368 227776368 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153496 S 2 1 0 COL4A3 HuRef nsv521800 2 227829391 227875788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694570 S 2026 0 1 COL4A3 nsv522790 2 227949010 227953678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698434 S 2026 0 1 TM4SF20 nsv518519 2 227949010 227975352 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695960 S 2026 1 0 TM4SF20 nsv875922 2 227949010 228000155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500112 S 6533 1 0 TM4SF20 SP50084 esv259842 2 227949254 227966733 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400186,essv2400251,essv2395853,essv2398509,essv2398878,essv2395769,essv2400290,essv2396782,essv2400780,essv2395388,essv2396677 M 144 0 0 Samples from several populations that are part of the HapMap project. TM4SF20 NA07037,NA11829,NA11830,NA11894,NA11995,NA12004,NA12154,NA12249,NA12717,NA12749,NA12750 esv23388 2 227949391 227966691 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18736 S 451 5 0 TM4SF20 NA07037,NA11894,NA11995,NA12004,NA12749 esv2421896 2 227951554 227967101 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5128569,essv5042342,essv5003505,essv5057955,essv5038355,essv5138621,essv5110264,essv5112160,essv5131219,essv5075624,essv5094886,essv5025118,essv5071075,essv5004407,essv5047660,essv5127223,essv5083146,essv5063976,essv5105784,essv5064677,essv5158168,essv5012274,essv5136398,essv5159676,essv5089518,essv5118325,essv5071894,essv5043847,essv5052360,essv5095972,essv5083876,essv5038521,essv5093812,essv5107422,essv5056960,essv5111623,essv5127617,essv5034744,essv5091657,essv5075567,essv5061428,essv5067720,essv5157206,essv5149036,essv5083038,essv5111368,essv5086342,essv5052269 M 1184 48 0 TM4SF20 NA07022,NA07037,NA10830,NA10835,NA10856,NA10865,NA11829,NA11891,NA11893,NA11894,NA11995,NA12154,NA12275,NA12336,NA12343,NA12383,NA12739,NA12749,NA12750,NA12815,NA12865,NA12874,NA19657,NA19658,NA19659,NA19704,NA19705,NA19761,NA19763,NA19917,NA19918,NA20342,NA20505,NA20520,NA20538,NA20752,NA20766,NA20774,NA20775,NA20786,NA20795,NA20802,NA20807,NA20813,NA20815,NA20826,NA20850,NA20890 nsv515518 2 227952641 227966532 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667177,nssv686422,nssv653432 M 2026 3 0 "" nsv818116 2 227952641 227966532 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415882,nssv1415746,nssv1418540,nssv1415748,nssv1418539,nssv1415747 M 112 6 0 "" NA10830,NA11995,NA12154,NA12865,NA12874,NA12875 esv2505093 2 227976443 227978954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378388 S 1 0 1 "" NA18507 esv270418 2 227996865 227996950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516520 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv834560 2 228049515 228217332 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442588 S 95 0 1 AGFG1,C2orf83 esv259807 2 228097989 228100279 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394933,essv2398395,essv2397751 M 144 0 0 Samples from several populations that are part of the HapMap project. AGFG1 NA18545,NA18552,NA18956 nsv834561 2 228123352 228276243 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442589 S 95 1 0 AGFG1,C2orf83,SLC19A3 nsv213271 2 228185283 228193821 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231849 M 24 C2orf83 esv21547 2 228196672 228203133 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10868 S 451 0 1 C2orf83 NA11993 nsv875923 2 228216075 228234344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561071 S 6533 0 1 "" MS24833 nsv875924 2 228231384 228248769 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500426 S 6533 1 0 "" SP50084 nsv517957 2 228232354 228232554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695370 S 2026 0 1 "" nsv520733 2 228286053 228315600 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674850,nssv680244 M 2026 2 0 SLC19A3 nsv10221 2 228288153 228614224 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11579,nssv12330,nssv28911,nssv11721,nssv11858,nssv11803,nssv28249 M 31 0 7 Samples from several populations that are part of the HapMap project. CCL20,SLC19A3,SPHKAP,WDR69 NA12155,NA18504,NA18572,NA18860,NA18975,NA19173,NA19221 nsv524766 2 228315600 228320260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700757 S 2026 0 1 "" nsv834562 2 228325471 228512204 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442590 S 95 1 0 CCL20,WDR69 esv2392175 2 228350601 228350932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910703 S 1 0 1 "" NA18507 nsv875925 2 228358175 228377279 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586300 S 6533 0 1 "" IS37734 nsv516162 2 228363176 228363345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691515,nssv667089,nssv687613,nssv666558,nssv673187,nssv675730,nssv685488,nssv693168,nssv677751 M 2026 0 9 "" nsv525491 2 228363176 228377979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701622 S 2026 0 1 "" nsv3192 2 228458258 228489828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11031 S 9 1 0 WDR69 NA15510 nsv518157 2 228461277 228463111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695578 S 2026 0 1 WDR69 nsv524371 2 228516940 228520542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700283 S 2026 0 1 "" nsv875926 2 228610487 228707935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554147 S 6533 0 1 SPHKAP MS20630 nsv10222 2 228616210 228624260 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28656 S 31 0 1 Samples from several populations that are part of the HapMap project. SPHKAP NA11830 dgv1290e1 2 228619134 228628997 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1332,essv19063 M 271 0 0 SPHKAP NA11830 nsv875927 2 228624509 228639257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507124 S 6533 0 1 SPHKAP SP54477 esv2529771 2 228673958 228675303 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200522 S 1 0 1 SPHKAP NA18507 nsv3193 2 228761835 228796311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4506 S 9 1 0 "" NA12878 esv274982 2 228784123 228789804 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585713 S 1250 0 1 "" nsv507071 2 228797501 228803501 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620750,nssv617586,nssv622841,nssv621689 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1345501 2 228837071 228837208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253011 S 2 0 1 "" HuRef nsv875928 2 228864074 228931311 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500065 S 6533 1 0 "" SP50084 nsv507072 2 228880217 228886217 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621690,nssv617587 M 4 2 0 "" CHM,NA10860 esv2620136 2 228937716 228938687 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289024 S 1 1 0 "" NA18507 esv270945 2 228937949 228938034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518738,essv2518595,essv2515751,essv2515214,essv2518929,essv2518331 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12287,NA12815,NA19238,NA19239,NA19240 esv272214 2 228937949 228938216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580981,essv2579347,essv2579646 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1171851 2 228937987 228937987 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984927 S 2 1 0 "" HuRef nsv875929 2 228951271 229042609 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499296 S 6533 1 0 "" SP50084 nsv507073 2 228951762 228957762 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617588,nssv620751 M 4 2 0 "" CHM,NA15510 nsv511159 2 228961169 228978069 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626099 S 1 0 1 "" 1 esv1003151 2 228971226 228977437 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564452 S 3 0 1 "" HuRef nsv820213 2 228971645 228977255 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419719 S 2 1 0 "" AK1 nsv511841 2 228971933 228977997 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626497 S 1 0 1 "" 1 esv25850 2 228972648 228976580 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20420 S 451 36 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820689 2 228972648 228976580 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420290 S 1 0 1 "" NA10851 nsv821911 2 228972648 228976580 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434295 S 31 0 1 "" NA18570 esv988992 2 228974913 228976332 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587106 S 3 0 1 "" HuRef dgv687n67 2 228974913 228976575 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821912,nsv821914,nsv821913 M 31 0 21 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18547,NA18564,NA18582,NA18942,NA18947,NA18968,NA18969,NA18973,NA18997 nsv526675 2 228999887 229052996 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703007 S 2026 1 0 "" nsv460111 2 229010986 229052996 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536727 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01215 dgv492n27 2 229074427 229139585 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460112,nsv460114,nsv460113 M 1557 0 3 "" HGDP00458,HGDP00464,HGDP00470 nsv470520 2 229074427 229153912 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547295 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00470 nsv875930 2 229098461 229316515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575435 S 6533 0 1 "" IS33747 nsv518694 2 229113709 229139165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696145 S 2026 0 1 "" esv7782 2 229121497 229121590 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30223 S 1 1 0 "" SJK esv27481 2 229157636 229160344 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16914 S 451 0 10 "" NA18502,NA18505,NA18508,NA18858,NA18861,NA18907,NA18909,NA19099,NA19129,NA19147 nsv514123 2 229157856 229160224 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627430 S 1414 0 1 "" nsv875931 2 229162204 229280031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600897 S 6533 0 1 "" IS41940 dgv4442n71 2 229173980 229302599 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875933,nsv875932 M 6533 2 0 "" MS12188,MS22807 nsv460115 2 229210863 229298717 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536731 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00654 nsv470521 2 229210863 229298717 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547296 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00654 nsv875934 2 229212309 229348479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558541 S 6533 0 1 "" MS23340 nsv875935 2 229253479 229366708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500316 S 6533 1 0 "" SP50084 nsv3194 2 229383515 229418196 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1575 S 9 1 0 "" NA19240 nsv834563 2 229437387 229637504 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442591 S 95 1 0 PID1 nsv437613 2 229464498 229471217 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467494 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv511842 2 229466890 229468635 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626498 S 1 0 1 "" 1 esv28474 2 229467553 229471907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12003,esv20729 M 451 0 4 "" NA11894,NA12489,NA12749,NA19129 esv32609 2 229467600 229472217 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97597,essv100840,essv94769,essv101402,essv95759,essv98547,essv99631,essv99447 M 51 0 8 "" 21616,21656,21791,21805,21841,22085,22217,22335 esv271448 2 229468129 229468214 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516807 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv33709 2 229472670 229474385 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93343 S 51 1 0 "" 22170 esv33624 2 229474200 229474385 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96905,essv92957,essv98569,essv99458 M 51 3 1 "" 21817,21939,22085,22335 esv1004614 2 229535053 229538027 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565739 S 3 0 1 "" HuRef nsv519567 2 229536702 229549846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694335 S 2026 0 1 "" nsv528993 2 229549846 229556970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705695 S 2026 0 1 "" nsv3195 2 229562264 229606784 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2316 S 9 0 1 PID1 NA18555 nsv875936 2 229575991 229635417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527590 S 6533 1 0 PID1 SP58548 nsv3196 2 229612106 229642843 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5851 S 9 1 0 PID1 NA19129 nsv875937 2 229652416 229678042 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565340 S 6533 0 1 PID1 IS30398 esv2638269 2 229664313 229665814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229616 S 1 0 1 PID1 NA18507 dgv18e194 2 229664834 229665391 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2157895,esv2235662 M 1 0 1 PID1 NA18507 esv996239 2 229665013 229665197 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568208 S 3 0 1 PID1 HuRef nsv3197 2 229679216 229723967 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7624 S 9 0 1 PID1 NA12156 esv2404043 2 229711802 229712275 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698447 S 1 0 1 PID1 NA18507 nsv507074 2 229728165 229734165 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621691 S 4 1 0 PID1 NA10860 nsv875938 2 229729299 229753516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499737 S 6533 1 0 PID1 SP50084 esv1360518 2 229757480 229757774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335374 S 2 0 1 PID1 HuRef nsv834564 2 229812110 230004380 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442599,nssv1442593,nssv1442604,nssv1442594,nssv1442601,nssv1442592,nssv1442603,nssv1442600,nssv1442607,nssv1442610,nssv1442609,nssv1442597,nssv1442602,nssv1442598,nssv1442596,nssv1442608,nssv1442605 M 95 17 0 DNER,PID1 nsv523394 2 229839896 229905506 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699144 S 2026 1 0 PID1 esv2496416 2 229897000 229898550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199751 S 1 0 1 "" NA18507 nsv528651 2 229905506 229916488 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705284 S 2026 1 0 "" nsv3198 2 229914737 229945796 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4507 S 9 1 0 DNER NA12878 esv273242 2 229962281 229962614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579142 S 7 1 0 Samples from several populations that are part of the HapMap project. DNER NA19239 esv268917 2 229962282 229962609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557508,essv2551700,essv2532112,essv2569224,essv2578757,essv2550030,essv2569832,essv2538718,essv2526463,essv2560732,essv2560945,essv2530191,essv2546002,essv2551634 M 157 14 0 Samples from several populations that are part of the HapMap project. DNER NA18499,NA18504,NA18505,NA18508,NA18510,NA18511,NA18520,NA19108,NA19114,NA19116,NA19137,NA19141,NA19239,NA19257 nsv875939 2 229975924 230036245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499381 S 6533 1 0 DNER SP50084 nsv520821 2 230029732 230036245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675766,nssv680432 M 2026 0 2 DNER nsv875940 2 230029732 230105178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557579 S 6533 0 1 DNER MS22764 esv25345 2 230048400 230066653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13557 S 451 0 1 DNER NA19099 esv269313 2 230049782 230055862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546330,essv2531785,essv2570658,essv2576896,essv2550557,essv2535455,essv2558518,essv2564417,essv2530847,essv2544816,essv2552751,essv2564934,essv2561120,essv2566259,essv2528864,essv2572213,essv2556144,essv2578218,essv2527653,essv2522501,essv2531665,essv2572152,essv2575415,essv2568669,essv2560324,essv2538034,essv2548760 M 157 27 0 Samples from several populations that are part of the HapMap project. DNER NA07000,NA07037,NA11881,NA12006,NA12044,NA12154,NA12155,NA12249,NA12750,NA12751,NA12873,NA18526,NA18542,NA18558,NA18562,NA18572,NA18579,NA18609,NA18871,NA18940,NA18952,NA18960,NA18961,NA18973,NA19099,NA19147,NA19190 nsv522560 2 230062825 230071370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705943 S 2026 0 1 DNER esv2290408 2 230080065 230080509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508819 S 1 0 1 DNER NA18507 esv2652970 2 230135559 230138212 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181590 S 1 0 1 DNER NA18507 esv2751841 2 230283738 230537838 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985289,essv6988915,essv6987204 M 771 1 0 DNER,FBXO36,TRIP12 SPC_138 esv1196015 2 230316367 230316543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046266 S 2 0 1 "" HuRef dgv164e55 2 230375814 230701378 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751842,esv2751843 M 771 2 0 FBXO36,SLC16A14,TRIP12 BEC_414,BEC_714 nsv460118 2 230439641 230608009 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536733 S 1557 1 0 FBXO36,SLC16A14,TRIP12 NINDS_242 nsv3200 2 230443438 230453192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6909 S 9 1 0 TRIP12 NA12156 esv987544 2 230506687 230507359 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570348 S 3 0 1 FBXO36 HuRef nsv875941 2 230537838 230637692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551248 S 6533 0 1 FBXO36,SLC16A14 MS18843 nsv3201 2 230548294 230593939 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6910 S 9 0 1 FBXO36 NA12156 esv21790 2 230585280 230587670 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14465 S 451 0 2 FBXO36 NA12156,NA12239 esv32933 2 230585735 230587465 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96918,essv94486 M 51 0 2 FBXO36 21817,21932 dgv4443n71 2 230667776 230735406 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875943,nsv875942 M 6533 2 0 "" IS36273,SP50084 nsv520444 2 230722749 230729308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697207,nssv673998,nssv671525 M 2026 0 3 "" nsv518470 2 230726413 230735406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695906 S 2026 0 1 "" esv29172 2 230781222 231176091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11055,esv18000,esv20995,esv16348 M 451 0 4 SP100,SP110,SP140,SP140L NA12044,NA12287,NA18858,NA18916 nsv875944 2 230871242 230897291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499681 S 6533 1 0 SP140 SP50084 dgv4444n71 2 230880886 230985811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875945,nsv875946 M 6533 4 0 SP140,SP140L IS39512,MS10386,MS15813,MS24011 esv2751844 2 230887739 230988739 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987493,essv6987494,essv6984113,essv6984114,essv6984115 M 771 1 0 SP140L BEC_775 nsv875947 2 230898690 230989530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565062 S 6533 0 1 SP100,SP140L IS30350 nsv508889 2 230905543 230918820 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621187 S 4 1 0 SP140L NA15510 nsv819175 2 230923213 230930955 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419840 S 2 0 1 SP140L AK1 esv2625322 2 230951619 230953123 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195783 S 1 0 1 SP140L NA18507 esv993570 2 230952943 230954159 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586628 S 3 0 1 SP140L HuRef nsv521344 2 230976169 230989530 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697953 S 2026 1 0 SP100,SP140L esv2481105 2 231032962 231034559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241034 S 1 0 1 SP100 NA18507 esv2087998 2 231033341 231034093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643083 S 1 0 1 SP100 NA18507 esv3308 2 231033465 231033950 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25749 S 1 0 1 Single Asian sample YH SP100 YH esv1000746 2 231033539 231033881 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569011 S 3 0 1 SP100 HuRef esv7579 2 231033549 231033917 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30020 S 1 0 1 SP100 SJK esv1035307 2 231033553 231033896 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228827 S 2 0 1 SP100 HuRef nsv214779 2 231072468 231072468 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233357 M 24 SP100 esv994890 2 231072470 231072470 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577499 S 3 1 0 SP100 HuRef nsv875948 2 231088941 231128645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499352 S 6533 1 0 SP100 SP50084 dgv4445n71 2 231115907 231142516 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875950,nsv875951,nsv875952,nsv875949 M 6533 7 0 SP100 IS30150,IS33829,IS38309,IS39393,IS40817,IS40928,MS21925 nsv460120 2 231122932 231141481 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536734 S 1557 1 0 "" 1780854325_A nsv528220 2 231122932 231141481 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704781 S 2026 1 0 "" nsv875953 2 231123433 231166063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535121 S 6533 0 1 "" MS12027 nsv875954 2 231129775 231150072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578948 S 6533 0 1 "" IS34996 nsv875955 2 231148799 231209049 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499894 S 6533 1 0 "" SP50084 nsv527319 2 231201060 231209711 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703744 S 2026 1 0 "" esv6381 2 231208959 231209028 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28822 S 1 1 0 "" SJK nsv3202 2 231261416 231279094 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4657 S 9 0 1 LOC151475 NA19129 nsv834565 2 231270916 231493620 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442611 S 95 1 0 CAB39,GPR55,ITM2C,LOC151475,LOC151484 esv25277 2 231272686 231275858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9900 S 451 0 1 LOC151475 NA19129 nsv514124 2 231272768 231274224 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627441 S 1414 0 1 LOC151475 nsv470522 2 231440944 231516535 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547297 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR55,ITM2C,LOC151484 HGDP00661 nsv875956 2 231462650 231592748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583808 S 6533 1 0 GPR55,LOC151484,LOC348761,SPATA3 IS36656 esv2485386 2 231509829 231510718 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260760 S 1 1 0 "" NA18507 esv3327 2 231592285 231593614 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25768 S 1 0 1 Single Asian sample YH "" YH nsv821915 2 231592459 231592923 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435758,nssv1424729,nssv1429675,nssv1421578,nssv1440242,nssv1428934,nssv1426519,nssv1438701 M 31 0 8 "" AK12,AK14,AK6,NA18564,NA18566,NA18968,NA18973,NA18997 dgv688n67 2 231592459 231593653 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821916,nsv821917 M 31 0 3 "" AK20,NA18526,NA18547 esv27962 2 231592639 231593324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10356 S 451 0 1 "" NA11993 nsv525474 2 231635813 231744037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701602 S 2026 0 1 HTR2B,PSMD1 nsv524208 2 231650736 231744037 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700095 S 2026 1 0 HTR2B,PSMD1 esv271896 2 231691051 231691375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494382,essv2504105,essv2496294,essv2494662,essv2505844,essv2495685,essv2501236,essv2498913,essv2510434 M 157 9 0 Samples from several populations that are part of the HapMap project. HTR2B,PSMD1 NA18502,NA18505,NA18511,NA18519,NA18861,NA18916,NA19093,NA19138,NA19172 nsv875957 2 231696344 231749339 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499775 S 6533 1 0 HTR2B,PSMD1 SP50084 nsv875958 2 231701982 231748291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513921 S 6533 0 1 PSMD1 SP55878 nsv511843 2 231702975 231704915 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626500 S 1 0 1 PSMD1 1 esv2630508 2 231703851 231705470 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184958 S 1 0 1 PSMD1 NA18507 esv1919954 2 231704224 231704951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754669 S 1 0 1 PSMD1 NA18507 esv4723 2 231704350 231704812 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27164 S 1 0 1 Single Asian sample YH PSMD1 YH nsv214090 2 231704421 231704744 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232668 M 24 PSMD1 esv2245776 2 231737803 231738213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843068 S 1 0 1 PSMD1 NA18507 esv2277694 2 231822603 231823119 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883788 S 1 0 1 ARMC9 NA18507 nsv834566 2 231879823 232024823 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442612 S 95 0 1 ARMC9,B3GNT7,MIR4777 nsv518307 2 231880212 231900549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695739 S 2026 0 1 ARMC9 dgv4446n71 2 231920451 231997488 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875959,nsv875961,nsv875960 M 6533 0 6 B3GNT7,MIR4777 IS32322,IS33797,IS34235,IS37646,IS38176,IS41634 nsv512788 2 231925790 231926703 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625420 S 1 1 0 "" 1 nsv214398 2 231925822 231925822 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232976 M 24 "" nsv834567 2 231945963 232133310 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442613 S 95 1 0 B3GNT7,LINC00471,NCL,NMUR1,SNORA75,SNORD20,SNORD82 dgv4447n71 2 231960566 231991153 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875963,nsv875962,nsv875964 M 6533 0 3 B3GNT7 SP54043,SP54725,SP54988 nsv875965 2 231970663 232005281 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500060 S 6533 1 0 B3GNT7 SP50084 esv273288 2 231988021 231988349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581373 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1200511 2 231988058 231988058 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638890 S 2 1 0 "" HuRef esv1331690 2 231999164 231999223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227150 S 2 0 1 "" HuRef esv270903 2 232030298 232030678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509892,essv2509338,essv2493875 M 157 3 0 Samples from several populations that are part of the HapMap project. NCL NA18508,NA18909,NA19210 nsv819681 2 232035846 232036365 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418979 S 2 0 1 NCL AK1 nsv3203 2 232043350 232088202 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7625 S 9 0 1 LINC00471 NA12156 esv1373646 2 232045973 232045973 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636653 S 2 1 0 "" HuRef nsv875966 2 232052199 232140542 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499521 S 6533 1 0 LINC00471,NMUR1 SP50084 nsv875967 2 232092128 232267180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580811 S 6533 0 1 C2orf57,NMUR1 IS35484 nsv875968 2 232146542 232198728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550943,nssv1560733 M 6533 2 0 C2orf57 MS18672,MS24678 esv1122983 2 232153481 232153481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292143 S 2 1 0 "" HuRef esv273106 2 232190929 232191190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580668,essv2578982,essv2579689 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268246 2 232190932 232191241 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512569,essv2496781,essv2504149,essv2509656,essv2496217,essv2501186,essv2494665,essv2506172,essv2503293,essv2497343,essv2507924,essv2512758,essv2508595,essv2509973,essv2496088,essv2513520,essv2503546,essv2500588,essv2495155,essv2502683,essv2500769,essv2501363,essv2506433,essv2509506,essv2498834,essv2497681,essv2501774,essv2502240 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18505,NA18508,NA18511,NA18516,NA18519,NA18523,NA18542,NA18545,NA18564,NA18577,NA18592,NA18593,NA18603,NA18907,NA18947,NA18956,NA18964,NA18965,NA18973,NA19093,NA19108,NA19129,NA19138,NA19147,NA19239,NA19257 nsv834568 2 232198322 232353095 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442614 S 95 0 1 MIR1244-1,MIR1244-2,MIR1244-3,PDE6D,PTMA dgv1291e1 2 232245069 232437013 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22311,essv15296 M 271 0 0 COPS7B,MIR1244-1,MIR1244-2,MIR1244-3,PDE6D,PTMA NA06985,NA18862 dgv1292e1 2 232245069 232541910 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15520,essv14723,essv823,essv15396,essv8820,essv9427,essv1858,essv18653,essv20306,essv2828,essv8304,essv10924,essv23847,essv11796,essv3466,essv14894,essv20048,essv1222,essv5059,essv20324,essv10745,essv20606,essv20772,essv544,essv20410,essv4557,essv1407,essv8728,essv22935,essv15267,essv14150,essv7395,essv6585,essv5727,essv4689,essv12511,essv873,essv24812,essv14480,essv39,essv15866,essv21760,essv11867,essv7838,essv23132,essv9997,essv6766,essv9024,essv5932,essv15787,essv21346,essv9609,essv7584,essv5198,essv3146,essv5145,essv3041,essv11656,essv23196,essv5302,essv23976,essv7154,essv4226,essv8936,essv1775,essv4063,essv23826,essv4151,essv4948,essv20894,essv13808,essv4628,essv23224,essv17643,essv20125,essv24495,essv9332,essv10653,essv13476,essv19945,essv8387,essv23866,essv24570,essv25022,essv23359,essv12403,essv18132,essv14062,essv17441,essv9781,essv11078,essv21396,essv5238,essv19165,essv15642,essv2475,essv21164,essv9710,essv21518,essv12725,essv18773,essv8431,essv17976,essv22600,essv5554,essv22765,essv3363,essv5119,essv256,essv2098,essv700,essv24153,essv20672,essv1162,essv12664,essv5515,essv16232,essv15991,essv24660,essv6834,essv13522,essv2190,essv16123,essv3743,essv23577,essv17247,essv3551,essv6972,essv22149,essv11781,essv10297,essv22198,essv397 M 271 0 0 COPS7B,DIS3L2,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,NPPC,PDE6D,PTMA NA07019,NA07022,NA07029,NA07048,NA07056,NA07345,NA07348,NA07357,NA10830,NA10839,NA10847,NA10857,NA10860,NA11829,NA11830,NA11881,NA11992,NA11993,NA12003,NA12006,NA12043,NA12044,NA12144,NA12146,NA12156,NA12234,NA12236,NA12239,NA12716,NA12740,NA12750,NA12763,NA12801,NA12802,NA12813,NA12814,NA12865,NA12873,NA12874,NA12878,NA12891,NA12892,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18508,NA18516,NA18521,NA18522,NA18523,NA18524,NA18529,NA18545,NA18547,NA18550,NA18555,NA18558,NA18562,NA18563,NA18564,NA18576,NA18577,NA18579,NA18582,NA18593,NA18594,NA18603,NA18611,NA18621,NA18622,NA18623,NA18624,NA18632,NA18635,NA18637,NA18853,NA18855,NA18858,NA18861,NA18863,NA18912,NA18913,NA18914,NA18945,NA18948,NA18949,NA18951,NA18960,NA18961,NA18965,NA18971,NA18973,NA18975,NA18976,NA18981,NA18987,NA18991,NA18992,NA18995,NA18997,NA18998,NA18999,NA19000,NA19007,NA19012,NA19092,NA19094,NA19099,NA19100,NA19103,NA19131,NA19132,NA19140,NA19141,NA19153,NA19154,NA19159,NA19160,NA19161,NA19192,NA19200,NA19202,NA19203,NA19207,NA19208,NA19209,NA19211,NA19221,NA19223,NA19238 nsv428408 2 232245069 232541910 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454179,nssv454178,nssv454175,nssv454177 M 62 1 3 COPS7B,DIS3L2,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,NPPC,PDE6D,PTMA HGDP00462,HGDP00478,NA19189,NA19225 dgv1293e1 2 232245069 232714102 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv147,essv11427,essv10481 M 271 0 0 COPS7B,DIS3L2,MIR1244-1,MIR1244-2,MIR1244-3,MIR1471,NPPC,PDE6D,PTMA NA18515,NA18857 nsv3204 2 232252458 232297141 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7626 S 9 0 1 MIR1244-1,MIR1244-2,MIR1244-3,PTMA NA12156 esv2265792 2 232267089 232267499 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776795 S 1 0 1 "" NA18507 nsv214289 2 232267243 232267304 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232867 M 24 "" nsv214669 2 232273581 232278063 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233247 M 24 "" nsv875969 2 232288502 232333107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597840 S 6533 0 1 PDE6D IS41317 essv10235 2 232368556 232541910 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. COPS7B,DIS3L2,MIR1471,NPPC NA19152 nsv3205 2 232373328 232410830 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2318,nssv10271,nssv6911,nssv5852 M 9 4 0 COPS7B NA12156,NA18555,NA18956,NA19129 nsv508890 2 232374378 232439327 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623363,nssv619303,nssv621188 M 4 3 0 COPS7B NA10860,NA15510,NA18994 nsv511094 2 232374378 232462423 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618641 S 4 0 0 COPS7B CHM nsv3206 2 232387363 232455516 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5853,nssv5854,nssv4508 M 9 0 2 "" NA12878,NA19129 nsv10223 2 232392678 232425583 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11757,nssv28285,nssv29115,nssv28675,nssv11833,nssv29098,nssv28971,nssv28890,nssv27727,nssv28501,nssv28006,nssv28696,nssv28986,nssv28439,nssv28594,nssv28891 M 31 1 15 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA11830,NA12740,NA12802,NA12872,NA18504,NA18564,NA18853,NA18975,NA18980,NA19007,NA19132,NA19240 esv27299 2 232395418 232424238 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11856,esv13943 M 451 5 12 "" NA06985,NA07037,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18505,NA18508,NA18517,NA18916,NA19108,NA19114,NA19129,NA19190,NA19225 esv1010479 2 232396054 232422722 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586518 S 3 1 0 "" HuRef esv1932016 2 232404541 232404863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897967 S 1 0 1 "" NA18507 esv2188828 2 232405309 232405744 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579783 S 1 0 1 "" NA18507 nsv3207 2 232414842 232440510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10272,nssv11032,nssv1576,nssv7627 M 9 4 0 "" NA12156,NA15510,NA18956,NA19240 esv1361480 2 232420318 232420716 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804150 S 2 0 1 "" HuRef nsv508892 2 232462423 232513572 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623364 S 4 1 0 MIR1471,NPPC NA18994 nsv527152 2 232558047 232686458 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703543 S 2026 1 0 DIS3L2 nsv3208 2 232560889 232585236 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7628 S 9 0 1 DIS3L2 NA12156 nsv517411 2 232596920 232646827 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676359,nssv688265,nssv705453,nssv664919,nssv681718,nssv688958,nssv683745,nssv670964,nssv651941,nssv677215,nssv692919,nssv657186 M 2026 12 0 DIS3L2 esv2483533 2 232627691 232629238 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248987 S 1 0 1 DIS3L2 NA18507 nsv875970 2 232721316 232755535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508840,nssv1500343,nssv1506549,nssv1518121 M 6533 0 4 DIS3L2 SP50137,SP54373,SP54725,SP57469 nsv3209 2 232729410 232774489 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7629 S 9 0 1 DIS3L2 NA12156 esv2072026 2 232749507 232754605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756865 S 1 0 1 DIS3L2 NA18507 esv7611 2 232819852 232819911 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30052 S 1 1 0 DIS3L2 SJK esv1000331 2 232819862 232819862 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581154 S 3 1 0 DIS3L2 HuRef nsv213397 2 232819863 232819863 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231975 M 24 DIS3L2 nsv875971 2 232846831 232958927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556421 S 6533 0 1 ALPP,DIS3L2,ECEL1P2 MS22008 nsv522450 2 232849621 233095879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705811 S 2026 0 1 ALPI,ALPP,ALPPL2,DIS3L2,ECEL1,ECEL1P2,PRSS56 esv34493 2 232879731 233020695 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979762,essv6979761,essv6986934 M 771 1 0 ALPP,ALPPL2,DIS3L2,ECEL1P2 NA18622 dgv4448n71 2 232884178 232947987 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875976,nsv875973,nsv875974,nsv875972,nsv875975 M 6533 0 6 DIS3L2 IS33504,IS33684,MS10311,MS16153,MS17208,MS18276 nsv821918 2 232892017 233133919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424740 S 31 1 0 ALPI,ALPP,ALPPL2,CHRND,CHRNG,DIS3L2,ECEL1,ECEL1P2,EIF4E2,PRSS56,TIGD1 NA18968 nsv875977 2 232893753 233125796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580812 S 6533 0 1 ALPI,ALPP,ALPPL2,CHRND,CHRNG,DIS3L2,ECEL1,ECEL1P2,EIF4E2,PRSS56,TIGD1 IS35484 dgv4449n71 2 232901246 233031421 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875981,nsv875991,nsv875984,nsv875987,nsv875978,nsv875989,nsv875983,nsv875988 M 6533 12 0 ALPI,ALPP,ALPPL2,DIS3L2,ECEL1P2 IS35219,IS37991,IS41754,IS41939,MS17453,SP50754,SP51411,SP52627,SP54693,SP54936,SP57174,SP57789 esv2314532 2 232905933 232906376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728205 S 1 0 1 DIS3L2 NA18507 nsv875979 2 232909572 232987979 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504311 S 6533 1 0 ALPP,ALPPL2,DIS3L2,ECEL1P2 SP52409 dgv493n27 2 232913134 233011377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460122,nsv460123 M 1557 0 2 ALPP,ALPPL2,ECEL1P2 1780862002_A,1798860047_A dgv4450n71 2 232914248 233031421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv875985,nsv875993,nsv875980,nsv875990 M 6533 0 4 ALPI,ALPP,ALPPL2,ECEL1P2 IS34510,IS35072,IS37646,SP54350 dgv4451n71 2 232914248 233031421 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv875982,nsv875986 M 6533 7 7 ALPI,ALPP,ALPPL2,ECEL1P2 IS31553,IS31837,IS34360,IS37292,IS37632,IS38114,IS40387,IS40819,IS40898,IS41922,MS12640,SP52692,SP52701,SP81146 dgv494n27 2 232914248 233031421 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460124,nsv460126,nsv460129,nsv460127,nsv460130 M 1557 5 0 ALPI,ALPP,ALPPL2,ECEL1P2 1780862431_A,1782681263_A,HGDP00799,HGDP00977,HGDP01227 nsv436293 2 232916698 233024474 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465974 S 2 0 1 Samples from several populations that are part of the HapMap project. ALPP,ALPPL2,ECEL1P2 NA18505 dgv1294e1 2 232920105 233016180 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv947,essv4333 M 271 0 0 ALPP,ALPPL2,ECEL1P2 NA18622 nsv521461 2 232920105 233023552 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698071 S 2026 0 1 ALPP,ALPPL2,ECEL1P2 nsv438382 2 232936077 232960881 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471216 S 269 0 1 Samples from several populations that are part of the HapMap project. ALPP,ECEL1P2 NA18622 nsv875992 2 232936077 233010203 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527325 S 6533 1 0 ALPP,ALPPL2,ECEL1P2 SP58343 nsv875994 2 232947987 232984594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517194 S 6533 1 0 ALPP,ALPPL2,ECEL1P2 SP57205 dgv4452n71 2 232947987 233017792 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv875995,nsv875997 M 6533 2 0 ALPP,ALPPL2,ECEL1P2 SP50076,SP81239 nsv518263 2 232947987 233017792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695694 S 2026 0 1 ALPP,ALPPL2,ECEL1P2 nsv875996 2 232951208 232979531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510494 S 6533 0 1 ALPP,ECEL1P2 SP54967 nsv482057 2 232951592 232955841 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558418 S 1 1 0 ALPP KB1 nsv516736 2 232958927 232976959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697025,nssv676552,nssv670538 M 2026 0 3 ECEL1P2 nsv875998 2 232976959 233136519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592116 S 6533 0 1 ALPI,ALPPL2,CHRND,CHRNG,ECEL1,EIF4E2,PRSS56,TIGD1 IS39233 nsv482058 2 232979796 232983669 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558419 S 1 1 0 ALPPL2 KB1 nsv518736 2 232996993 233002017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696185 S 2026 0 1 "" esv22637 2 233001644 233004723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11715 S 451 0 1 "" NA18861 nsv527789 2 233009060 233106459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704281 S 2026 0 1 ALPI,CHRND,ECEL1,PRSS56 nsv875999 2 233011377 233081094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574998 S 6533 0 1 ALPI,ECEL1 IS33684 nsv876000 2 233011377 233241446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544079 S 6533 1 0 ALPI,CHRND,CHRNG,ECEL1,EFHD1,EIF4E2,PRSS56,TIGD1 MS16242 nsv482060 2 233029077 233032986 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558421 S 1 1 0 ALPI KB1 nsv876001 2 233036874 233070511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509783 S 6533 0 1 ECEL1 SP54956 dgv4453n71 2 233036874 233103541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876002,nsv876006,nsv876003 M 6533 0 3 CHRND,ECEL1,PRSS56 IS33504,IS40799,MS17208 nsv511844 2 233040666 233041747 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626501 S 1 0 1 "" 1 nsv516082 2 233047792 233084028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692005,nssv666104,nssv681835 M 2026 0 3 ECEL1 dgv4454n71 2 233048959 233136519 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876005,nsv876004,nsv876007 M 6533 0 3 CHRND,CHRNG,ECEL1,EIF4E2,PRSS56,TIGD1 MS10311,MS16153,MS18276 nsv3211 2 233088761 233100287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1577 S 9 1 0 CHRND,PRSS56 NA19240 nsv3212 2 233099174 233137066 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7630 S 9 0 1 CHRND,CHRNG,EIF4E2,TIGD1 NA12156 nsv876008 2 233124856 233213766 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499408 S 6533 1 0 EFHD1,EIF4E2 SP50084 esv259458 2 233148095 233148354 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394120,essv2393938,essv2393734,essv2394056 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239 esv259471 2 233156160 233156438 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394127 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv259561 2 233163662 233164614 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394032,essv2394376 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269508 2 233330276 233330628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494376,essv2509756,essv2498478,essv2513562,essv2495726,essv2504722,essv2509495 M 157 7 0 Samples from several populations that are part of the HapMap project. GIGYF2 NA18502,NA18508,NA18858,NA18907,NA18916,NA19099,NA19129 nsv834570 2 233347404 233513311 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442615 S 95 1 0 C2orf82,GIGYF2,KCNJ13,NGEF nsv460134 2 233348153 233422930 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536743 S 1557 0 1 GIGYF2,KCNJ13 1780862466_A esv2600931 2 233375810 233377396 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350223 S 1 0 1 GIGYF2 NA18507 esv2225863 2 233376412 233377137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550786 S 1 0 1 GIGYF2 NA18507 esv4368 2 233376566 233376971 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26809 S 1 0 1 Single Asian sample YH GIGYF2 YH esv8516 2 233376627 233376931 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30957 S 1 0 1 GIGYF2 SJK esv1066741 2 233376630 233376935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862658 S 2 0 1 GIGYF2 HuRef esv1028910 2 233459119 233459119 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229925 S 2 1 0 NGEF HuRef esv2443215 2 233472304 233473931 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360201 S 1 0 1 NGEF NA18507 esv1592465 2 233472543 233472595 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788505 S 2 0 1 NGEF HuRef esv3194 2 233472629 233473879 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25635 S 1 0 1 Single Asian sample YH NGEF YH esv8097 2 233472665 233473742 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30538 S 1 0 1 NGEF SJK esv1438259 2 233472757 233472855 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905191 S 2 0 1 NGEF HuRef esv1789642 2 233473008 233473292 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048477 S 2 0 1 NGEF HuRef esv8770 2 233473078 233473259 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31211 S 1 0 1 NGEF SJK esv1445847 2 233479462 233479625 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972354 S 2 0 1 NGEF HuRef nsv518226 2 233498691 233501761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695653 S 2026 0 1 NGEF nsv876009 2 233507644 233704673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499749 S 6533 1 0 INPP5D,NEU2,NGEF SP50520 nsv876010 2 233509600 233547296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511845 S 6533 1 0 NGEF SP55125 nsv876011 2 233517488 233620999 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523923 S 6533 1 0 NEU2,NGEF SP54284 nsv518558 2 233532360 233533154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696001 S 2026 0 1 NGEF esv23962 2 233546024 233550448 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20452 S 451 1 0 NGEF NA19099 esv269482 2 233554098 233554436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514517,essv2516816,essv2517075,essv2515443,essv2514968,essv2516612,essv2518097,essv2516067,essv2514286,essv2517636,essv2519002,essv2513796,essv2518225,essv2513735 M 157 14 0 Samples from several populations that are part of the HapMap project. NGEF NA07347,NA11840,NA11881,NA11931,NA12249,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA19141,NA19143,NA19240 esv274441 2 233554098 233554436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581503,essv2581230 M 7 2 0 Samples from several populations that are part of the HapMap project. NGEF NA12878,NA19240 esv8496 2 233568012 233568512 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30937 S 1 0 1 NGEF SJK esv1761461 2 233568049 233568049 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070774 S 2 1 0 NGEF HuRef esv1149653 2 233568208 233568208 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252215 S 2 1 0 NGEF HuRef nsv876012 2 233607621 233704673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511846 S 6533 1 0 INPP5D,NEU2 SP55125 nsv520361 2 233634445 233637789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697372 S 2026 0 1 INPP5D esv1142800 2 233638544 233638609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105789 S 2 0 1 INPP5D HuRef nsv3213 2 233677855 233689058 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7631 S 9 1 0 INPP5D NA12156 nsv527354 2 233758544 233783621 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703783 S 2026 1 0 INPP5D esv1209599 2 233772749 233772898 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137986 S 2 0 1 INPP5D HuRef dgv495n27 2 233907086 233952787 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460135,nsv460136 M 1557 0 2 DGKD,SAG 1780862093_A,1780862415_A esv28401 2 233927887 233928502 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14236 S 451 0 1 DGKD NA12489 esv26406 2 233970219 233971090 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16539 S 451 1 0 DGKD NA11993 nsv876013 2 234002966 234244654 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587284 S 6533 1 0 DGKD,UGT1A10,UGT1A8,USP40 IS38002 esv1994590 2 234005363 234005789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636368 S 1 0 1 DGKD NA18507 nsv3214 2 234049175 234081688 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7632 S 9 0 1 USP40 NA12156 nsv7336 2 234093387 234191793 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6913,nssv9589,nssv10273,nssv9588,nssv1579,nssv6912,nssv9360,nssv9358,nssv4510,nssv4511,nssv1578,nssv5856 M 9 0 0 UGT1A8,USP40 NA12156,NA12878,NA18507,NA18517,NA18956,NA19129,NA19240 nsv511095 2 234123371 234166381 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622357,nssv621664 M 4 0 0 USP40 NA10860,NA15510 nsv519876 2 234131582 234157787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697100 S 2026 0 1 USP40 nsv513646 2 234134502 234151195 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626898 S 1 0 0 USP40 1 nsv436670 2 234134660 234148073 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465975 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv992038 2 234135025 234154379 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565204 S 3 0 0 "" HuRef nsv499765 2 234135584 234152302 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585536 S 9 0 0 "" esv1030429 2 234136102 234151235 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259617 S 2 0 0 "" HuRef nsv507075 2 234136925 234142925 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617589,nssv622842 M 4 2 0 "" CHM,NA18994 nsv508134 2 234144880 234150880 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623891 S 4 0 1 "" NA18994 esv2594574 2 234144999 234147008 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336103 S 1 0 1 "" NA18507 esv1541184 2 234145718 234146314 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716940 S 2 0 1 "" HuRef esv22124 2 234157344 234166140 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11149 S 451 1 0 "" NA12239 nsv522661 2 234157787 234161684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706063 S 2026 0 1 "" nsv876014 2 234160481 234210600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515878 S 6533 1 0 UGT1A10,UGT1A8 SP56301 nsv876015 2 234182750 234244654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535718 S 6533 0 1 UGT1A10,UGT1A8 MS12432 esv22295 2 234208095 234209684 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20608 S 451 0 1 UGT1A8 NA18508 esv24647 2 234234022 234239855 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17839 S 451 1 0 UGT1A10,UGT1A8 NA12239 nsv876016 2 234255266 234266408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580636 S 6533 1 0 UGT1A10,UGT1A6,UGT1A7,UGT1A8,UGT1A9 IS35408 nsv876017 2 234282982 234291711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500145 S 6533 0 1 UGT1A10,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 SP50532 nsv3215 2 234295862 234335015 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9361 S 9 0 1 DNAJB3,LOC100286922,UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NA18517 esv25622 2 234312898 234324273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16620 S 451 0 3 DNAJB3,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NA18517,NA18523,NA18861 nsv498958 2 234313070 234324763 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585819 S 9 0 1 DNAJB3,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 nsv433211 2 234313447 234322989 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463092 S 9 0 1 Samples from several populations that are part of the HapMap project. DNAJB3,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NA18517 esv2422005 2 234313447 234323362 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053975,essv5132696,essv5119072,essv5058038,essv5082545,essv5097097,essv5116620,essv5099013,essv5064386,essv5030236,essv5114054,essv5079847,essv5051949,essv5030755,essv5070586,essv5092527,essv5096087,essv5070886,essv5133026,essv5055564,essv5034555,essv5033905,essv5030576,essv5022915,essv5115808,essv5058999,essv5024938,essv5124226,essv5059577,essv5007124,essv5109650,essv5027450,essv5112393,essv5145405,essv5128553 M 1184 0 35 DNAJB3,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 NA18515,NA18517,NA18861,NA18863,NA18934,NA19027,NA19096,NA19097,NA19107,NA19109,NA19328,NA19373,NA19383,NA19444,NA19446,NA19448,NA19708,NA19908,NA21336,NA21363,NA21379,NA21415,NA21418,NA21438,NA21439,NA21478,NA21485,NA21486,NA21487,NA21524,NA21525,NA21576,NA21717,NA21739,NA21825 nsv519815 2 234313599 234323362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660895,nssv658879,nssv671712,nssv690450 M 2026 0 4 DNAJB3,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 nsv514125 2 234313936 234322704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627452 S 1414 0 1 DNAJB3,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 esv8142 2 234318044 234329409 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30583 S 1 0 1 LOC100286922,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 SJK nsv876018 2 234318677 234331200 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504577 S 6533 1 0 LOC100286922,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 SP52604 nsv527330 2 234352775 234367644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703755 S 2026 0 1 "" esv25607 2 234363018 234366013 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10212,esv11552,esv11339 M 451 8 0 "" NA06985,NA11894,NA12776,NA18505,NA18508,NA18909,NA19114,NA19147 esv2332178 2 234363734 234364210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755353 S 1 0 1 "" NA18507 nsv460137 2 234366425 234373368 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536746 S 1557 0 1 "" NINDS_60 nsv876019 2 234388964 234401784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564282 S 6533 0 1 "" IS30197 dgv4455n71 2 234388964 234413553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876020,nsv876022,nsv876021 M 6533 0 3 HJURP IS33162,MS10311,MS13770 nsv470523 2 234390558 234405229 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547298 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00661 nsv876023 2 234390893 234427876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546508 S 6533 0 1 HJURP MS17208 esv24508 2 234405271 234405806 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15109 S 451 1 0 "" NA12414 esv25891 2 234431701 234435447 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11919,esv10395,esv15915 M 451 30 0 "" NA06985,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19257 nsv3216 2 234438177 234469463 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5857 S 9 1 0 MSL3P1 NA19129 nsv876024 2 234507389 234521160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500018 S 6533 1 0 TRPM8 SP50084 nsv834571 2 234594027 234775071 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442616 S 95 1 0 SPP2 nsv460138 2 234598298 234608782 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536747 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 dgv237n21 2 234598369 234608782 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522778,nsv524821 M 2026 0 2 "" nsv470524 2 234598369 234608782 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547299 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 nsv437316 2 234604220 234621083 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467197 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 nsv517003 2 234607462 234618717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676218,nssv671547,nssv654476,nssv693410,nssv662018,nssv659429,nssv653600,nssv664779,nssv670245,nssv672077 M 2026 0 10 "" nsv10224 2 234624437 234627123 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29145,nssv28634 M 31 0 2 Samples from several populations that are part of the HapMap project. SPP2 NA18564,NA18980 esv24028 2 234656084 234659611 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17447 S 451 0 1 "" NA18909 nsv515812 2 234657651 234659626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685816,nssv679318,nssv685845,nssv674833,nssv671297,nssv672813,nssv668849,nssv662148,nssv693061,nssv676056,nssv680350,nssv655306,nssv690045,nssv667575,nssv689758,nssv664853,nssv689338,nssv671474,nssv658719 M 2026 0 19 "" nsv818117 2 234657651 234659626 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416922,nssv1418256,nssv1418135,nssv1417836,nssv1418255,nssv1418439 M 112 0 6 "" NA18852,NA19093,NA19094,NA19138,NA19144,NA19192 nsv3217 2 234658562 234688635 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4512 S 9 1 0 "" NA12878 nsv508135 2 234803147 234809147 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623892,nssv618567 M 4 0 2 "" CHM,NA18994 nsv834572 2 234811043 234998581 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442618 S 95 0 1 "" esv2588803 2 234857415 234857820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175760 S 1 0 1 "" NA18507 nsv3218 2 234870298 234903486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7633 S 9 1 0 "" NA12156 nsv524184 2 234970071 234972277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700066 S 2026 0 1 "" nsv522071 2 235095463 235100179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694843 S 2026 0 1 "" esv26951 2 235107588 235114803 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12663 S 451 2 0 "" NA18916,NA19099 esv988227 2 235116975 235128694 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564788 S 3 0 1 "" HuRef esv2032096 2 235117793 235118263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907406 S 1 0 1 "" NA18507 nsv507076 2 235144863 235150863 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622843,nssv620752,nssv621692 M 4 3 0 "" NA10860,NA15510,NA18994 nsv528994 2 235151730 235157238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705696 S 2026 0 1 "" nsv512789 2 235184434 235184527 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625422 S 1 1 0 "" 1 nsv3219 2 235201884 235229858 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6914 S 9 0 1 "" NA12156 nsv834573 2 235206144 235384355 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442619 S 95 0 1 "" esv1336284 2 235211483 235211483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833246 S 2 1 0 "" HuRef nsv508202 2 235214732 235260816 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620202 S 4 0 1 "" NA15510 esv1010036 2 235218471 235224199 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565766 S 3 0 1 "" HuRef nsv499815 2 235218762 235223027 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585636 S 9 0 1 "" esv21853 2 235218802 235223263 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17332 S 451 5 0 "" NA06985,NA12006,NA18517,NA18858,NA19225 nsv821564 2 235218802 235223263 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420293 S 1 0 1 "" NA10851 esv1464313 2 235218867 235220138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167161 S 2 0 1 "" HuRef nsv527654 2 235235347 236122627 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704125 S 2026 1 0 AGAP1,SH3BP4 esv28151 2 235333619 235334704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17320 S 451 0 1 "" NA18909 esv22577 2 235379003 235381062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18590 S 451 0 4 "" NA18907,NA19114,NA19147,NA19190 nsv508203 2 235379882 235393868 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622449 S 4 0 1 "" NA18994 esv998009 2 235472496 235472545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569114 S 3 0 1 "" HuRef esv1074431 2 235475406 235475470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266717 S 2 0 1 "" HuRef esv2624019 2 235476494 235477984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241855 S 1 0 1 "" NA18507 esv2226057 2 235476821 235477500 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931862 S 1 0 1 "" NA18507 esv3101 2 235476960 235477383 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25542 S 1 0 1 Single Asian sample YH "" YH esv22389 2 235505894 235506729 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9844 S 451 0 1 "" NA19190 nsv876025 2 235532124 235614616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546509 S 6533 0 1 SH3BP4 MS17208 nsv460140 2 235564098 235615023 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536749 S 1557 0 1 SH3BP4 NINDS_54 esv3796 2 235584080 235584602 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26237 S 1 0 1 Single Asian sample YH SH3BP4 YH esv7240 2 235584151 235584556 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29681 S 1 0 1 SH3BP4 SJK esv993755 2 235584183 235584251 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567576 S 3 0 1 SH3BP4 HuRef esv1367526 2 235584225 235584294 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608280 S 2 0 1 SH3BP4 HuRef nsv3220 2 235597968 235626351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5858 S 9 1 0 SH3BP4 NA19129 nsv214423 2 235611633 235611789 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233001 M 24 SH3BP4 esv2525139 2 235664347 235664412 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385165 S 1 0 1 "" NA18507 esv21797 2 235675473 235676118 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20670 S 451 0 1 "" NA12776 esv2389240 2 235675490 235676022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807773 S 1 0 1 "" NA18507 nsv3222 2 235698167 235729919 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10274 S 9 1 0 "" NA18956 nsv518274 2 235702784 235703606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695706 S 2026 0 1 "" nsv528400 2 235719828 235740495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704990 S 2026 0 1 "" esv2613377 2 235742481 235742896 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283652 S 1 1 0 "" NA18507 nsv876026 2 235744582 235797955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548101 S 6533 0 1 "" MS17697 nsv876027 2 235755562 235789294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599362,nssv1573748 M 6533 0 2 "" IS33504,IS41634 nsv834574 2 235757393 235910130 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442620 S 95 0 1 "" esv270636 2 235763686 235764013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571673,essv2531792,essv2529355,essv2530650,essv2557086,essv2578606,essv2524648,essv2578461,essv2533756,essv2560705,essv2530344,essv2533058,essv2554343 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA11840,NA12006,NA12749,NA12873,NA18501,NA18510,NA18555,NA18940,NA18944,NA19116,NA19141 nsv518281 2 235778792 235789294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695712 S 2026 0 1 "" nsv876028 2 235865662 235930235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595312 S 6533 1 0 "" IS40224 nsv876029 2 235947651 236335675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595313 S 6533 1 0 AGAP1 IS40224 nsv834575 2 235957712 236116745 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442622,nssv1442621 M 95 2 0 AGAP1 esv1000874 2 236077719 236077719 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574713 S 3 1 0 AGAP1 HuRef esv2424821 2 236098428 236099995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279796 S 1 0 1 AGAP1 NA18507 esv25019 2 236098647 236099693 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18402 S 451 0 1 AGAP1 NA12828 nsv213603 2 236099319 236099618 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232181 M 24 AGAP1 esv1723837 2 236109637 236109637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602309 S 2 1 0 AGAP1 HuRef nsv876030 2 236143395 236683249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587285 S 6533 1 0 AGAP1 IS38002 nsv460141 2 236158901 236190565 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536750 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGAP1 HGDP00972 nsv876031 2 236200134 236283164 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499208 S 6533 1 0 AGAP1 SP50084 nsv821919 2 236224803 236262965 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438702 S 31 1 0 AGAP1 NA18973 esv24255 2 236242837 236244003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16692 S 451 0 1 AGAP1 NA19129 esv22988 2 236361245 236361811 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16215 S 451 0 2 AGAP1 NA18517,NA19257 esv2647729 2 236375975 236376844 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381385 S 1 1 0 AGAP1 NA18507 esv275222 2 236414670 236420301 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585224 S 1250 0 1 AGAP1 nsv876032 2 236432840 236683249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587536 S 6533 1 0 AGAP1 IS38064 nsv522224 2 236462904 236726693 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695001 S 2026 1 0 AGAP1 esv2521379 2 236470064 236471482 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330316 S 1 0 1 AGAP1 NA18507 esv259545 2 236483496 236483765 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394108,essv2393788,essv2394073,essv2394327 M 6 0 0 Samples from several populations that are part of the HapMap project. AGAP1 NA12878,NA12892,NA19239,NA19240 esv259715 2 236483507 236483776 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398876,essv2400564,essv2397593,essv2395406,essv2397349,essv2396902,essv2395641,essv2397648,essv2394653,essv2394428,essv2395900,essv2395451,essv2394587,essv2397375,essv2398312,essv2396347,essv2399694,essv2397058,essv2400483 M 144 0 0 Samples from several populations that are part of the HapMap project. AGAP1 NA11995,NA12043,NA12044,NA12749,NA12878,NA12892,NA18501,NA18502,NA18870,NA18943,NA18945,NA18948,NA18965,NA18980,NA19093,NA19138,NA19210,NA19239,NA19240 esv1341911 2 236483668 236483668 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256394 S 2 1 0 AGAP1 HuRef nsv214308 2 236483669 236483669 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232886 M 24 AGAP1 esv2751845 2 236536844 236747816 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988684,essv6983530,essv6986454 M 771 1 0 AGAP1,GBX2 BEC_666 nsv876033 2 236551866 236609599 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500558 S 6533 1 0 AGAP1 SP50084 nsv524185 2 236561260 236587063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700067 S 2026 0 1 AGAP1 esv33938 2 236617203 236868098 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99100 S 51 0 1 AGAP1,ASB18,GBX2 21938 dgv4456n71 2 236654796 236747816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876034,nsv876035 M 6533 0 2 AGAP1,GBX2 IS32322,MS11726 nsv821922 2 236680726 236820316 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424753 S 31 1 0 AGAP1,ASB18,GBX2 NA18968 nsv876036 2 236691010 236764149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543389 S 6533 0 1 AGAP1,GBX2 MS16153 nsv821923 2 236707556 236801528 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438703 S 31 1 0 ASB18,GBX2 NA18973 nsv526683 2 236717214 236738515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703015 S 2026 0 1 "" nsv525913 2 236726693 236747816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702117 S 2026 0 1 GBX2 nsv821924 2 236736045 236745902 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426520 S 31 1 0 GBX2 AK6 nsv460143 2 236768436 236837057 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536751 S 1557 0 1 ASB18 1780862444_A dgv4457n71 2 236768436 236932539 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876038,nsv876037 M 6533 2 0 ASB18,IQCA1 IS30667,SP54935 nsv214473 2 236810754 236810828 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233051 M 24 ASB18 nsv876039 2 236866495 236903235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500683 S 6533 1 0 IQCA1 SP50084 dgv4458n71 2 236906379 237093893 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876040,nsv876042 M 6533 0 2 IQCA1 IS38064,IS41881 nsv876041 2 236939496 237117788 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509638 S 6533 1 0 IQCA1 SP54935 nsv3223 2 237014081 237058985 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7634 S 9 0 1 IQCA1 NA12156 esv28807 2 237020248 237020890 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14460 S 451 0 2 IQCA1 NA19147,NA19225 nsv821925 2 237027340 237027787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431926 S 31 0 1 IQCA1 AK20 nsv834576 2 237039949 237227592 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442623 S 95 1 0 CXCR7,IQCA1 nsv876043 2 237067854 237092141 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499117 S 6533 1 0 IQCA1 SP50084 esv2576763 2 237115785 237116870 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344856 S 1 1 0 "" NA18507 esv990173 2 237116295 237116295 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577945 S 3 1 0 "" HuRef nsv876044 2 237129730 237186581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556709,nssv1557067 M 6533 0 2 CXCR7 MS22122,MS22353 nsv528791 2 237149595 237154643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705461 S 2026 0 1 CXCR7 nsv524571 2 237152327 237154643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700526 S 2026 0 1 CXCR7 nsv834577 2 237181720 237367340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442624 S 95 0 1 "" esv2254799 2 237201990 237202566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931784 S 1 0 1 "" NA18507 esv1949309 2 237202270 237202644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828310 S 1 0 1 "" NA18507 esv5690 2 237221639 237221699 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28131 S 1 1 0 "" SJK nsv3224 2 237249763 237284243 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3050 S 9 1 0 "" NA18555 nsv460144 2 237325521 237385373 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536752 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01057 esv989289 2 237366663 237366724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568789 S 3 0 1 "" HuRef esv1073246 2 237366686 237366748 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254871 S 2 0 1 "" HuRef nsv521989 2 237373226 237378925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694756 S 2026 0 1 "" nsv521370 2 237373226 237385373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697979 S 2026 0 1 "" esv2327156 2 237386204 237386631 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651324 S 1 0 1 "" NA18507 esv28247 2 237433947 237435482 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19354 S 451 0 2 "" NA18916,NA19114 dgv4459n71 2 237437564 237475142 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876046,nsv876045 M 6533 4 0 "" SP51238,SP53402,SP55795,SP58465 nsv876047 2 237459284 237471874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542384 S 6533 0 1 "" MS15771 nsv524209 2 237459284 237473061 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700096 S 2026 1 0 "" esv2466138 2 237460886 237461237 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290427 S 1 1 0 "" NA18507 esv1061531 2 237460980 237460980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069220 S 2 1 0 "" HuRef nsv438383 2 237464678 237471874 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471218,nssv471217 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18592,NA18637 nsv460145 2 237465980 237471874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536753 S 1557 0 1 "" NINDS_97 nsv524171 2 237468039 237473061 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700051 S 2026 1 0 "" esv995424 2 237585542 237585992 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586927 S 3 1 0 "" HuRef esv1784351 2 237604167 237604373 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4295187 S 2 0 1 "" HuRef esv1307626 2 237604771 237604771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023547 S 2 1 0 "" HuRef esv25782 2 237702094 237704903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21422 S 451 0 1 "" NA12828 esv2377444 2 237708361 237708789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690488 S 1 0 1 "" NA18507 nsv518812 2 237719636 237721323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696265 S 2026 0 1 "" nsv3225 2 237721552 237756024 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3051 S 9 1 0 "" NA18555 nsv876048 2 237783186 237886882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502532 S 6533 0 1 "" SP51244 nsv876049 2 237802391 237908006 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500270 S 6533 1 0 COL6A3 SP50084 nsv876050 2 237820476 237999018 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577515 S 6533 1 0 COL6A3 IS34477 esv269687 2 237878668 237878986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565573,essv2576093,essv2526193,essv2544013,essv2521542,essv2535356,essv2564517,essv2559409,essv2576387,essv2533182 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11829,NA11830,NA11918,NA11992,NA12144,NA12249,NA12751,NA12776,NA12814 nsv3226 2 237908770 237940406 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10275 S 9 1 0 COL6A3 NA18956 nsv876051 2 237922635 237931797 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499969 S 6533 1 0 COL6A3 SP50084 nsv520263 2 237976351 237977935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683746,nssv662252,nssv679698 M 2026 0 3 COL6A3 nsv3227 2 238005829 238038909 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1580 S 9 1 0 "" NA19240 nsv876052 2 238082467 238091881 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503590 S 6533 1 0 MLPH SP52077 nsv876053 2 238089857 238094682 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499643 S 6533 1 0 MLPH SP50159 esv22555 2 238091893 238096063 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21427,esv19808 M 451 0 2 MLPH NA11894,NA18508 nsv876054 2 238091990 238186061 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577516 S 6533 1 0 MLPH,PRLH,RAB17 IS34477 esv2111392 2 238094970 238095396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934794 S 1 0 1 MLPH NA18507 esv1758716 2 238095458 238095946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122654 S 2 0 1 MLPH HuRef nsv876055 2 238100137 238125410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546510 S 6533 0 1 MLPH MS17208 nsv3228 2 238102018 238106114 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7635 S 9 1 0 MLPH NA12156 nsv511184 2 238114244 238118893 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626377 S 1 0 1 MLPH 1 esv2348994 2 238115946 238116396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979785 S 1 0 1 MLPH NA18507 nsv820752 2 238115980 238119136 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420294 S 1 0 1 MLPH NA10851 esv29730 2 238115980 238122467 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16965,esv21162 M 451 11 1 MLPH NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA18505,NA18508,NA18517,NA18907,NA19114,NA19257 nsv511845 2 238115986 238118706 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626502 S 1 0 1 MLPH 1 esv1008822 2 238116050 238118641 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586557 S 3 1 0 MLPH HuRef esv2653782 2 238116913 238119154 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201257 S 1 0 1 MLPH NA18507 esv1430875 2 238117004 238117125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344131 S 2 0 1 MLPH HuRef esv1702045 2 238117166 238117304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207906 S 2 0 1 MLPH HuRef esv1466648 2 238117889 238118173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704805 S 2 0 1 MLPH HuRef esv1581868 2 238118207 238118549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185626 S 2 0 1 MLPH HuRef esv5891 2 238138897 238139031 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28332 S 1 0 1 "" SJK esv2557764 2 238138929 238139020 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393707 S 1 0 1 "" NA18507 esv2477100 2 238139035 238139096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251812 S 1 0 1 "" NA18507 nsv515784 2 238140912 238144603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666437,nssv664780,nssv666396,nssv689759 M 2026 0 4 "" nsv3229 2 238147270 238192079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7636 S 9 0 1 RAB17 NA12156 nsv876056 2 238159481 238186061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546511 S 6533 0 1 RAB17 MS17208 esv28512 2 238161486 238163295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13321 S 451 0 2 RAB17 NA18505,NA19257 nsv876057 2 238163387 238214108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499426 S 6533 1 0 LRRFIP1,RAB17 SP50084 nsv876058 2 238164785 238287888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585807 S 6533 0 1 LRRFIP1 IS37646 esv3163 2 238171410 238171937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25604 S 1 0 1 Single Asian sample YH "" YH esv1147727 2 238171467 238171586 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096579 S 2 0 1 "" HuRef nsv508893 2 238188198 238238473 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619304,nssv621190 M 4 2 0 LRRFIP1 NA10860,NA15510 nsv876059 2 238191150 238216745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509784 S 6533 0 1 LRRFIP1 SP54956 esv23602 2 238218769 238224121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19198 S 451 0 1 LRRFIP1 NA12414 esv1004389 2 238221046 238221108 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569033 S 3 0 1 LRRFIP1 HuRef nsv3230 2 238224586 238233305 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4513 S 9 1 0 LRRFIP1 NA12878 nsv507077 2 238227511 238233511 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617590 S 4 1 0 LRRFIP1 CHM esv997081 2 238227843 238230639 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563917 S 3 1 0 LRRFIP1 HuRef nsv876060 2 238235813 238333522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599363 S 6533 0 1 LRRFIP1 IS41634 esv24426 2 238264791 238265922 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11007 S 451 0 1 LRRFIP1 NA19129 nsv518573 2 238287888 238299876 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696017 S 2026 1 0 LRRFIP1 nsv519961 2 238296486 238299876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678535,nssv659687 M 2026 0 2 LRRFIP1 esv4182 2 238330225 238330602 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26623 S 1 0 1 Single Asian sample YH LRRFIP1 YH nsv519581 2 238359286 238434631 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696933 S 2026 0 1 RAMP1,RBM44 esv1002667 2 238368768 238369686 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580788 S 3 0 1 "" HuRef nsv516443 2 238370867 238434631 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696281,nssv684695,nssv668452 M 2026 2 1 RAMP1,RBM44 esv268050 2 238402237 238402326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556562,essv2535465,essv2549319,essv2563628,essv2530152,essv2522336,essv2554589 M 157 7 0 Samples from several populations that are part of the HapMap project. RBM44 NA07346,NA11994,NA12249,NA18564,NA18603,NA18949,NA18960 nsv876061 2 238427144 238479991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546512 S 6533 0 1 RAMP1 MS17208 esv274938 2 238431724 238434631 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585517 S 1250 0 1 RAMP1 nsv508205 2 238462920 238543406 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622450 S 4 0 1 RAMP1,UBE2F,UBE2F-SCLY NA18994 nsv527428 2 238468217 238476051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703867 S 2026 0 1 RAMP1 esv2248583 2 238530544 238531017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640769 S 1 0 1 "" NA18507 nsv214866 2 238565004 238567490 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233444 M 24 UBE2F,UBE2F-SCLY nsv876062 2 238609102 238740551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585808 S 6533 0 1 ESPNL,KLHL30,SCLY,UBE2F,UBE2F-SCLY IS37646 esv2194763 2 238627173 238627651 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709802 S 1 0 1 UBE2F-SCLY NA18507 nsv508894 2 238650219 238750408 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619305 S 4 1 0 ESPNL,ILKAP,KLHL30,SCLY,UBE2F-SCLY NA10860 dgv4460n71 2 238664921 238740551 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876064,nsv876063 M 6533 0 5 ESPNL,KLHL30,SCLY,UBE2F-SCLY IS33504,IS39233,MS10386,MS13727,MS18276 esv1081669 2 238672026 238672026 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595214 S 2 1 0 SCLY,UBE2F-SCLY HuRef nsv518981 2 238672942 238688919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696448 S 2026 0 1 ESPNL nsv470525 2 238672942 238747816 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547300,nssv547303,nssv547302 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPNL,ILKAP,KLHL30 HGDP00326,HGDP00657,HGDP00661 nsv821926 2 238680637 238681159 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440243 S 31 1 0 ESPNL NA18564 esv29765 2 238683238 238684194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17991 S 451 0 5 ESPNL NA11993,NA12004,NA12006,NA12828,NA18907 esv1409806 2 238683448 238683861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852899 S 2 0 1 ESPNL HuRef esv1200670 2 238683903 238684103 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148072 S 2 0 1 ESPNL HuRef esv269690 2 238685523 238685875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493218,essv2496370,essv2505926,essv2507075,essv2499022,essv2510806,essv2497640,essv2512070,essv2498202,essv2502267 M 157 10 0 Samples from several populations that are part of the HapMap project. ESPNL NA18504,NA18510,NA18861,NA18870,NA19114,NA19116,NA19147,NA19238,NA19240,NA19257 esv272353 2 238685559 238685889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584098,essv2583510 M 7 2 0 Samples from several populations that are part of the HapMap project. ESPNL NA19238,NA19240 dgv4461n71 2 238686429 238740551 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876065,nsv876066 M 6533 0 2 ESPNL,KLHL30 SP50159,SP54956 nsv517412 2 238686429 238747715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674475,nssv667404,nssv660057,nssv687497,nssv663733,nssv701300,nssv673436,nssv681531,nssv669751,nssv661958,nssv657253,nssv651943,nssv676932,nssv683237,nssv671443,nssv666923,nssv661539,nssv685515,nssv679126,nssv704629,nssv697026,nssv690267,nssv658327,nssv673308,nssv673847,nssv670782,nssv672180,nssv680171,nssv666649,nssv688661,nssv681465,nssv664287,nssv654760,nssv676748,nssv686811,nssv663758,nssv691482,nssv679407,nssv664006,nssv660181,nssv661297,nssv669153,nssv657046,nssv677771,nssv668850,nssv658975,nssv666825,nssv671151,nssv674565,nssv690130,nssv662409 M 2026 0 51 ESPNL,ILKAP,KLHL30 nsv433212 2 238688919 238714279 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463093 S 9 0 1 Samples from several populations that are part of the HapMap project. ESPNL,KLHL30 NA19129 nsv460147 2 238688919 238747816 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536754 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ESPNL,ILKAP,KLHL30 HGDP00546 esv26211 2 238690502 238693787 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13912 S 451 1 0 ESPNL NA12044 esv990039 2 238691207 238692942 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586669 S 3 1 0 ESPNL HuRef nsv3231 2 238696413 238724920 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2319 S 9 1 0 ESPNL,KLHL30 NA18555 esv2600790 2 238700054 238700498 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344308 S 1 0 1 ESPNL NA18507 nsv819507 2 238724223 238740551 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418835,nssv1418814 M 2 1 0 KLHL30 AK1 nsv876067 2 238785391 238825830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509786 S 6533 0 1 HES6,LOC151174,LOC643387,PER2 SP54956 esv29190 2 238808974 238810014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16679 S 451 0 1 "" NA11894 esv21505 2 238812339 238814734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10601 S 451 0 1 HES6 NA12489 esv3670 2 238869351 238870135 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26111 S 1 0 1 Single Asian sample YH "" YH esv22867 2 238869374 238870079 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11503 S 451 1 4 "" NA12156,NA18508,NA18907,NA19099,NA19240 nsv821450 2 238869374 238870079 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420295 S 1 0 1 "" NA10851 esv1001810 2 238869469 238870009 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586340 S 3 0 1 "" HuRef esv1349228 2 238870003 238870084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050049 S 2 0 1 "" HuRef nsv3233 2 238876539 238908874 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10276 S 9 1 0 TRAF3IP1 NA18956 nsv876068 2 238971007 239102081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543390 S 6533 0 1 ASB1,LOC151171,TRAF3IP1 MS16153 esv1355575 2 238971576 238971576 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964345 S 2 1 0 TRAF3IP1 HuRef nsv876069 2 238987224 239017752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499547 S 6533 1 0 ASB1 SP50084 esv1724922 2 238991271 238991355 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633185 S 2 0 1 "" HuRef esv994802 2 239026501 239026558 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580893 S 3 0 1 "" HuRef esv2299120 2 239073928 239074630 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842382 S 1 0 1 "" NA18507 esv3655 2 239074048 239074605 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26096 S 1 0 1 Single Asian sample YH "" YH esv7839 2 239074124 239074434 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30280 S 1 0 1 "" SJK nsv821927 2 239079928 239082661 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440942 S 31 0 1 "" NA18969 nsv522171 2 239104849 239132169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694944 S 2026 0 1 LOC151171 esv1952789 2 239121704 239122116 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596837 S 1 0 1 LOC151171 NA18507 nsv876070 2 239147720 239171548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500096 S 6533 1 0 "" SP50084 esv1138949 2 239149468 239149468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019602 S 2 1 0 "" HuRef esv2462282 2 239164462 239167198 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258552 S 1 0 1 "" NA18507 nsv819026 2 239164809 239166587 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419323 S 2 1 0 "" AK1 esv2125192 2 239164987 239166569 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543846 S 1 0 1 "" NA18507 nsv821126 2 239165087 239166559 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420296 S 1 0 1 "" NA10851 nsv821928 2 239165087 239166559 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436469,nssv1435759,nssv1425623,nssv1427383,nssv1433542,nssv1434971,nssv1424073,nssv1429676,nssv1432711,nssv1440943,nssv1439571,nssv1438752,nssv1428935 M 31 0 13 "" AK12,AK14,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18566,NA18582,NA18942,NA18969,NA18972 esv1455879 2 239165137 239166474 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345100 S 2 0 1 "" HuRef esv993891 2 239165137 239166987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565648 S 3 0 1 "" HuRef esv22394 2 239165211 239166379 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10024 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821929 2 239165738 239166306 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438704 S 31 0 1 "" NA18973 nsv821930 2 239165738 239166559 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424860,nssv1424764,nssv1440962,nssv1428144,nssv1422488,nssv1438049,nssv1434298,nssv1431927,nssv1423255,nssv1437332,nssv1425113,nssv1421579,nssv1426522,nssv1430460,nssv1431191,nssv1440244 M 31 0 16 "" AK10,AK16,AK18,AK2,AK20,AK6,NA18552,NA18564,NA18570,NA18592,NA18947,NA18949,NA18951,NA18968,NA18997,NA18999 esv1248370 2 239211340 239211340 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080069 S 2 1 0 "" HuRef nsv508895 2 239268895 239354311 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623365 S 4 1 0 "" NA18994 esv2588125 2 239290286 239292878 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200349 S 1 0 1 "" NA18507 esv2255799 2 239290718 239292451 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887327 S 1 0 1 "" NA18507 esv26706 2 239340506 239342427 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16623 S 451 0 2 "" NA18909,NA19147 esv1326446 2 239340982 239340982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043276 S 2 1 0 "" HuRef nsv213374 2 239342759 239342759 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231952 M 24 "" esv25362 2 239349811 239351006 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20390 S 451 2 0 "" NA18861,NA19240 esv1923816 2 239356631 239357130 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808726 S 1 0 1 "" NA18507 esv1731583 2 239356942 239356942 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784665 S 2 1 0 "" HuRef esv1620308 2 239356976 239356976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691951 S 2 1 0 "" HuRef nsv526249 2 239359379 239362355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702521 S 2026 0 1 "" esv1288122 2 239368207 239368785 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660330 S 2 0 1 "" HuRef nsv821931 2 239383094 239383904 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440944 S 31 0 1 "" NA18969 nsv876071 2 239401110 240128468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530466 S 6533 0 1 FLJ43879,HDAC4,MGC16025,MIR2467,MIR4269,MIR4440,MIR4441,TWIST2 MS10311 esv2330809 2 239454074 239454556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862964 S 1 0 1 "" NA18507 esv1099594 2 239454258 239454366 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648022 S 2 0 1 "" HuRef nsv519991 2 239497749 239500181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659988,nssv673848 M 2026 0 2 "" nsv213803 2 239498379 239498435 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232381 M 24 "" nsv834578 2 239527254 239692178 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442625 S 95 0 1 HDAC4,MIR4440,MIR4441 esv269129 2 239548307 239548392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516698,essv2514811,essv2516600,essv2515613,essv2517997 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12234,NA12814,NA12815,NA12872 nsv876072 2 239563972 239627708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585809 S 6533 0 1 "" IS37646 dgv4462n71 2 239563972 239795994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876073,nsv876076,nsv876078 M 6533 0 3 HDAC4,MGC16025,MIR4440,MIR4441 IS39233,MS16153,MS17208 nsv876074 2 239588505 239661116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549625 S 6533 0 1 HDAC4,MIR4440 MS18276 nsv876075 2 239588505 239730293 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532368 S 6533 0 1 HDAC4,MIR4440,MIR4441 MS10769 nsv876077 2 239600480 239695421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584771 S 6533 0 1 HDAC4,MIR4440,MIR4441 IS37172 nsv215402 2 239604103 239604154 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233980 M 24 "" nsv876079 2 239618283 239643270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510672 S 6533 0 1 HDAC4 SP54988 nsv818118 2 239626552 239720490 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417715 S 112 1 0 HDAC4,MIR4440,MIR4441 NA18999 nsv834579 2 239626593 239817438 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442626 S 95 0 1 HDAC4,MGC16025,MIR4440,MIR4441 nsv876080 2 239629685 239703624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573750 S 6533 0 1 HDAC4,MIR4440,MIR4441 IS33504 nsv508896 2 239634577 239744434 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623366,nssv619306 M 4 2 0 HDAC4,MIR4440,MIR4441 NA10860,NA18994 nsv834581 2 239658743 239719703 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442627,nssv1442631 M 95 0 2 HDAC4,MIR4441 nsv3234 2 239663040 239673676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7637 S 9 1 0 HDAC4,MIR4441 NA12156 nsv460148 2 239679327 239710287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536755 S 1557 0 1 HDAC4 NINDS_230 nsv876081 2 239690698 239785453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574999 S 6533 0 1 HDAC4,MGC16025 IS33684 nsv428409 2 239693397 239999814 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454181 S 62 1 0 HDAC4,MGC16025,MIR2467,MIR4269 HGDP00474 esv22351 2 239711165 239711660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17244 S 451 0 1 HDAC4 NA18916 esv1680698 2 239711397 239711397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612780 S 2 1 0 HDAC4 HuRef nsv214049 2 239711441 239711441 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232627 M 24 HDAC4 dgv4463n71 2 239720490 239785453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876083,nsv876082,nsv876084 M 6533 0 3 HDAC4,MGC16025 IS35484,IS37646,MS18276 esv1671397 2 239737212 239737212 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135815 S 2 1 0 HDAC4 HuRef nsv876085 2 239743842 239773054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573751,nssv1571854 M 6533 0 2 HDAC4 IS32841,IS33504 dgv4464n71 2 239743842 239795994 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876087,nsv876086 M 6533 0 2 HDAC4,MGC16025 IS40230,IS41634 dgv4465n71 2 239757460 239785453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876088,nsv876089 M 6533 0 2 HDAC4,MGC16025 IS37172,MS16315 nsv876090 2 239757460 239795994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532369 S 6533 0 1 HDAC4,MGC16025 MS10769 nsv834582 2 239766801 239901957 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442636,nssv1442635,nssv1442634,nssv1442633,nssv1442632 M 95 0 5 HDAC4,MGC16025,MIR4269 nsv876091 2 239810313 239922895 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546514 S 6533 0 1 HDAC4,MIR4269 MS17208 esv5174 2 239818231 239818815 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27615 S 1 0 1 Single Asian sample YH HDAC4 YH esv1755219 2 239818241 239818381 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842350 S 2 0 1 HDAC4 HuRef esv1007259 2 239818408 239818617 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581121 S 3 0 1 HDAC4 HuRef esv1561814 2 239818630 239818700 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068771 S 2 0 1 HDAC4 HuRef esv26350 2 239866467 239869732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11815 S 451 0 1 HDAC4 NA12828 esv2105474 2 239867468 239867945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986486 S 1 0 1 HDAC4 NA18507 dgv689n67 2 239979187 239992949 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv821934,nsv821933 M 31 2 0 HDAC4 AK10,AK6 esv23834 2 239986805 239988192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17243 S 451 0 2 HDAC4 NA12489,NA19129 nsv876092 2 240028694 240128468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546515 S 6533 0 1 "" MS17208 nsv470526 2 240034983 240139519 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547304 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00661 esv3505 2 240054339 240054564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25946 S 1 0 1 Single Asian sample YH "" YH nsv876093 2 240059791 240114125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549627 S 6533 0 1 "" MS18276 dgv4466n71 2 240088228 240120591 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876095,nsv876094 M 6533 0 2 "" IS32322,MS16153 nsv876096 2 240091693 240138898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515654 S 6533 1 0 "" SP56234 nsv508897 2 240094149 240191728 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619307 S 4 1 0 "" NA10860 nsv876097 2 240100371 240123290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575000 S 6533 0 1 "" IS33684 nsv470528 2 240100371 240132491 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547305 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01223 esv995187 2 240124828 240124913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582555 S 3 0 1 "" HuRef esv989677 2 240133682 240133739 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581643 S 3 0 1 "" HuRef esv1013780 2 240133841 240133841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142760 S 2 1 0 "" HuRef nsv876098 2 240151711 240183708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582026 S 6533 1 0 "" IS35771 nsv876099 2 240154195 240963863 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558172 S 6533 1 0 LOC150935,MIR4786,MYEOV2,NDUFA10,OR6B2,OR6B3,OTOS,PRR21 MS23145 nsv876100 2 240157659 240554701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530467 S 6533 0 1 LOC150935,MIR4786,NDUFA10 MS10311 nsv876101 2 240164461 240266103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501060 S 6533 0 1 "" SP50927 esv1002823 2 240176372 240176432 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569850 S 3 0 1 "" HuRef esv1049641 2 240176379 240176440 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212729 S 2 0 1 "" HuRef esv1114408 2 240189493 240189493 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594887 S 2 1 0 "" HuRef nsv876102 2 240202181 240245688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499728 S 6533 1 0 "" SP50084 nsv508898 2 240210455 240362727 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619309,nssv619308 M 4 1 0 LOC150935 NA10860 nsv525277 2 240227323 240266103 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701380 S 2026 1 0 "" esv24089 2 240228646 240231611 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11403,esv10353 M 451 1 16 "" NA06985,NA11894,NA12287,NA12414,NA12749,NA15510,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19114,NA19129,NA19147,NA19190 esv3299 2 240229426 240229702 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25740 S 1 1 0 Single Asian sample YH "" YH esv3913 2 240229702 240230148 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26354 S 1 0 1 Single Asian sample YH "" YH nsv876103 2 240231615 240280666 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582027 S 6533 1 0 "" IS35771 esv1598513 2 240245387 240245893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771055 S 2 0 1 "" HuRef dgv238n21 2 240266103 240270700 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520395,nsv519303 M 2026 0 2 "" nsv460149 2 240270700 240327750 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536756 S 1557 0 1 "" 1780862197_A nsv834583 2 240283584 240449046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442637 S 95 0 1 LOC150935 nsv460151 2 240291687 240334982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536758 S 1557 0 1 "" 1780862573_A nsv876104 2 240291687 240339885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580814 S 6533 0 1 "" IS35484 nsv527411 2 240298159 240339885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703849 S 2026 0 1 "" esv1004918 2 240305916 240306538 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566154 S 3 0 1 "" HuRef esv5972 2 240305950 240306538 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28413 S 1 0 1 "" SJK nsv460152 2 240309844 240348732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536759 S 1557 0 1 "" 1780862416_A esv28278 2 240323702 240328373 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17856 S 451 1 0 "" NA12044 esv24718 2 240352466 240357181 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13091 S 451 1 0 LOC150935 NA12239 nsv818119 2 240353131 240357700 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418353 S 112 1 0 LOC150935 NA12239 nsv821935 2 240377318 240386575 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428146 S 31 1 0 LOC150935 AK10 esv25554 2 240402151 240404381 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15431 S 451 2 0 "" NA11995,NA19129 nsv876105 2 240403149 240447947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500082 S 6533 1 0 "" SP50084 esv27724 2 240404381 240404891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17310 S 451 0 2 "" NA18517,NA19099 esv1481041 2 240404423 240404423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757466 S 2 1 0 "" HuRef esv1694230 2 240404829 240404829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131797 S 2 1 0 "" HuRef nsv834584 2 240480817 240625791 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442638 S 95 1 0 MIR4786,NDUFA10,OR6B2 esv2360350 2 240482562 240482948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618023 S 1 0 1 "" NA18507 esv1546711 2 240482755 240482847 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045029 S 2 0 1 "" HuRef esv2509951 2 240486792 240487935 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201055 S 1 1 0 "" NA18507 esv1273951 2 240487504 240487504 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935830 S 2 1 0 "" HuRef esv2508490 2 240503244 240503527 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388199 S 1 0 1 "" NA18507 esv270158 2 240509364 240509703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519303,essv2518837,essv2515486,essv2515556,essv2518084 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12045,NA12249,NA12815,NA12872 nsv876106 2 240510721 240625000 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563584 S 6533 1 0 MIR4786,NDUFA10,OR6B2 MS26120 nsv3235 2 240514623 240547834 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7638 S 9 1 0 MIR4786,NDUFA10 NA12156 esv1933902 2 240518776 240519175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733723 S 1 0 1 "" NA18507 esv998653 2 240518909 240518994 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581474 S 3 0 1 "" HuRef nsv876107 2 240520566 240537187 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500389 S 6533 1 0 MIR4786 SP50084 nsv876108 2 240522732 240619095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546516 S 6533 0 1 MIR4786,NDUFA10,OR6B2 MS17208 nsv876109 2 240523370 240542184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549628 S 6533 0 1 MIR4786 MS18276 nsv876110 2 240523370 240551184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543393 S 6533 0 1 MIR4786,NDUFA10 MS16153 esv26904 2 240535826 240537206 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19048 S 451 2 0 "" NA12749,NA18861 nsv876111 2 240542219 240602887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499738 S 6533 1 0 NDUFA10 SP50084 nsv215214 2 240548270 240548341 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233792 M 24 NDUFA10 nsv482061 2 240548829 240613471 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558422 S 1 1 0 NDUFA10 KB1 nsv213273 2 240550331 240556069 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231851 M 24 NDUFA10 nsv525278 2 240589309 240710414 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701381 S 2026 1 0 NDUFA10,OR6B2,OR6B3,PRR21 nsv876112 2 240600276 240642372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530468 S 6533 0 1 NDUFA10,OR6B2,OR6B3,PRR21 MS10311 esv2423154 2 240606830 240608420 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231381 S 1 0 1 NDUFA10 NA18507 esv2166282 2 240607419 240608134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752628 S 1 0 1 NDUFA10 NA18507 esv7678 2 240607622 240607939 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30119 S 1 0 1 NDUFA10 SJK nsv214120 2 240607628 240607949 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232698 M 24 NDUFA10 nsv876113 2 240616234 240635787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535057,nssv1543027 M 6533 0 2 OR6B2,OR6B3,PRR21 MS11993,MS16032 nsv521049 2 240625000 240627212 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680746,nssv690761 M 2026 2 0 "" nsv3236 2 240625521 240655420 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10277 S 9 1 0 OR6B3,PRR21 NA18956 esv26039 2 240628372 240631997 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18563,esv13069,esv11010 M 451 0 12 PRR21 NA12006,NA12414,NA12749,NA15510,NA18505,NA18508,NA18517,NA18858,NA19099,NA19129,NA19190,NA19240 nsv511846 2 240628631 240631439 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626503 S 1 0 1 PRR21 1 nsv10225 2 240628921 240631486 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28487,nssv11834 M 31 0 2 Samples from several populations that are part of the HapMap project. PRR21 NA18517,NA19144 esv2556078 2 240629525 240631269 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187013 S 1 0 1 PRR21 NA18507 nsv876114 2 240652004 240709696 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499465 S 6533 1 0 "" SP50084 esv273801 2 240673916 240674148 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578887 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv1995429 2 240694106 240694518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527623 S 1 0 1 "" NA18507 nsv821280 2 240696210 240696955 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420297 S 1 1 0 "" NA10851 esv28831 2 240696270 240696955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13207 S 451 0 17 "" NA11993,NA11995,NA12044,NA12828,NA15510,NA18505,NA18508,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19190,NA19225,NA19240,NA19257 esv6039 2 240696289 240696971 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28480 S 1 0 1 "" SJK nsv213291 2 240696601 240697000 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv231869 M 24 "" esv2403194 2 240698711 240699151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730937 S 1 0 1 "" NA18507 nsv876115 2 240725144 240762156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549629 S 6533 0 1 OTOS MS18276 nsv876116 2 240736942 241835064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530469 S 6533 0 1 AGXT,ANKMY1,ANO7,AQP12A,AQP12B,C2orf54,CAPN10,DUSP28,GPC1,GPR35,HDLBP,KIF1A,LOC200772,MIR149,MTERFD2,PASK,PP14571,PPP1R7,RNPEPL1,SNED1 MS10311 esv26045 2 240745514 240747244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20397 S 451 0 18 "" NA06985,NA07045,NA11931,NA11993,NA12006,NA12044,NA12156,NA12749,NA12878,NA15510,NA18517,NA18523,NA18858,NA19099,NA19114,NA19190,NA19225,NA19240 esv1009172 2 240746663 240747058 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584714 S 3 0 1 "" HuRef esv1707334 2 240746681 240747077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870317 S 2 0 1 "" HuRef esv2227975 2 240746685 240747354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597798 S 1 0 1 "" NA18507 esv999702 2 240757503 240757503 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575985 S 3 1 0 "" HuRef nsv3237 2 240764475 240770283 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7639 S 9 1 0 "" NA12156 esv2001850 2 240769393 240769790 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587528 S 1 0 1 "" NA18507 esv3996 2 240769461 240769773 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26437 S 1 0 1 Single Asian sample YH "" YH esv1733400 2 240769607 240769661 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070612 S 2 0 1 "" HuRef nsv214075 2 240769607 240769714 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232653 M 24 "" esv7147 2 240773633 240774022 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29588 S 1 0 1 "" SJK dgv4467n71 2 240773938 240859477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876117,nsv876118 M 6533 0 2 "" MS17208,MS18276 nsv460153 2 240774292 240825091 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536760 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00971 esv4237 2 240782493 240782784 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26678 S 1 0 1 Single Asian sample YH "" YH esv25974 2 240782635 240783430 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13135 S 451 0 1 "" NA18502 nsv523687 2 240789869 240803099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699493 S 2026 0 1 "" nsv3238 2 240797923 240832686 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4514 S 9 1 0 "" NA12878 nsv460154 2 240801098 240841952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536761 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00806 esv2600990 2 240803530 240805344 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183208 S 1 0 1 "" NA18507 esv2266565 2 240805534 240805967 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893334 S 1 0 1 "" NA18507 nsv876119 2 240817894 240926837 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568799 S 6533 1 0 "" IS31338 esv22856 2 240855167 240859417 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18568 S 451 0 2 "" NA18907,NA19099 nsv876120 2 240874037 240916868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596978 S 6533 1 0 "" IS40681 nsv214307 2 240876604 240876653 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232885 M 24 "" esv993663 2 240881086 240891037 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563586 S 3 0 1 "" HuRef esv2518091 2 240890061 240891726 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358011 S 1 0 1 "" NA18507 esv1008637 2 240890473 240891118 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586075 S 3 0 1 "" HuRef nsv834585 2 240894657 241063270 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442640,nssv1442639 M 95 0 2 GPC1,MIR149,PP14571 nsv876121 2 240895953 240983013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585811 S 6533 0 1 "" IS37646 dgv4468n71 2 240895953 241058697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876122,nsv876124 M 6533 0 2 GPC1,MIR149,PP14571 IS33684,MS16153 nsv460155 2 240910330 240940418 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536762 S 1557 0 1 "" 1780862229_A nsv876123 2 240920135 240949365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570684 S 6533 0 1 "" IS32322 nsv876125 2 240920135 241240317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549631 S 6533 0 1 ANKMY1,CAPN10,DUSP28,GPC1,GPR35,MIR149,PP14571,RNPEPL1 MS18276 nsv508899 2 240921669 241078696 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619310 S 4 1 0 ANKMY1,GPC1,MIR149,PP14571 NA10860 nsv876126 2 240932841 240949365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573752 S 6533 0 1 "" IS33504 nsv526860 2 240935529 240938058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703218 S 2026 0 1 "" esv1451905 2 240943133 240943133 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129915 S 2 1 0 "" HuRef nsv441805 2 240961801 240970089 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv876127 2 240984046 241086251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529788 S 6533 0 1 ANKMY1,GPC1,MIR149,PP14571 MS10123 nsv876128 2 240987458 241035025 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499356 S 6533 1 0 GPC1 SP50084 nsv876129 2 240987458 241038675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533737 S 6533 0 1 GPC1,PP14571 MS11306 esv1441197 2 241001374 241001374 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671075 S 2 1 0 "" HuRef dgv4469n71 2 241008379 241054201 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876130,nsv876131 M 6533 0 2 GPC1,MIR149,PP14571 MS11237,SP54956 nsv460157 2 241011342 241058129 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536763 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPC1,MIR149,PP14571 HGDP00974 dgv1295e1 2 241013794 241237544 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1595,esv796 M 271 0 0 ANKMY1,CAPN10,DUSP28,GPC1,GPR35,MIR149,PP14571,RNPEPL1 NA18942 nsv876132 2 241016138 241225299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571855 S 6533 0 1 ANKMY1,CAPN10,DUSP28,GPC1,GPR35,MIR149,PP14571,RNPEPL1 IS32841 nsv516179 2 241017724 241056798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672766,nssv666650,nssv667288,nssv657498,nssv670007,nssv672594,nssv668730,nssv700694,nssv656890,nssv661540 M 2026 0 10 GPC1,MIR149,PP14571 nsv876133 2 241019738 241078722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589735 S 6533 0 1 ANKMY1,GPC1,MIR149,PP14571 IS38403 esv1000024 2 241027318 241035179 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564593 S 3 0 1 GPC1 HuRef nsv460158 2 241030756 241059962 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536764 S 1557 0 1 GPC1,MIR149,PP14571 NINDS_49 nsv819854 2 241035025 241056798 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418816,nssv1418836 M 2 1 0 GPC1,MIR149,PP14571 AK1 esv1515337 2 241036490 241036490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855047 S 2 1 0 GPC1 HuRef dgv4470n71 2 241038675 241058373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876135,nsv876134 M 6533 0 2 GPC1,MIR149,PP14571 SP50159,SP55992 essv1993 2 241039698 241158385 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKMY1,DUSP28,GPC1,MIR149,PP14571,RNPEPL1 NA18942 nsv876136 2 241044176 241078722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532370 S 6533 0 1 ANKMY1,GPC1,MIR149,PP14571 MS10769 nsv821936 2 241057507 241064681 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436470 S 31 1 0 "" NA18542 nsv834586 2 241063271 241210715 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442643,nssv1442642 M 95 0 2 ANKMY1,CAPN10,DUSP28,GPR35,RNPEPL1 nsv3239 2 241064913 241098945 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3052 S 9 1 0 ANKMY1 NA18555 nsv10226 2 241070495 241163139 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28711 S 31 1 0 Samples from several populations that are part of the HapMap project. ANKMY1,DUSP28,RNPEPL1 NA18942 nsv515975 2 241070653 241078722 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680747,nssv656359,nssv685646,nssv659502,nssv663651,nssv658498,nssv665561,nssv660438,nssv681377,nssv665951 M 2026 10 0 ANKMY1 dgv4471n71 2 241086493 241241451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876149,nsv876137,nsv876143 M 6533 0 3 ANKMY1,CAPN10,DUSP28,GPR35,RNPEPL1 IS33504,MS16153,MS17208 nsv876138 2 241088693 241102991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500326 S 6533 1 0 ANKMY1 SP50084 nsv438384 2 241091216 241103311 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471219 S 269 0 1 Samples from several populations that are part of the HapMap project. ANKMY1 NA18942 esv5720 2 241101796 241102996 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28161 S 1 0 0 ANKMY1 SJK dgv4472n71 2 241102506 241225299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876141,nsv876139,nsv876140,nsv876142 M 6533 0 4 ANKMY1,CAPN10,DUSP28,GPR35,RNPEPL1 IS33684,IS37646,IS38176,IS41634 nsv819352 2 241114746 241117185 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419428 S 2 0 1 ANKMY1 AK1 nsv876144 2 241115609 241387890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599019 S 6533 0 1 ANKMY1,AQP12A,AQP12B,CAPN10,DUSP28,GPR35,KIF1A,RNPEPL1 IS41243 esv1184193 2 241115868 241115868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288342 S 2 1 0 ANKMY1 HuRef dgv4473n71 2 241119408 241200075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876145,nsv876146,nsv876147 M 6533 0 3 ANKMY1,CAPN10,DUSP28,GPR35,RNPEPL1 IS32322,IS34304,IS39233 nsv876148 2 241125746 241179423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511334 S 6533 0 1 ANKMY1,CAPN10,DUSP28,RNPEPL1 SP55021 dgv4474n71 2 241142671 241166778 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876158,nsv876150,nsv876155,nsv876154,nsv876152,nsv876153,nsv876151 M 6533 0 7 ANKMY1,DUSP28,RNPEPL1 SP51109,SP54043,SP54672,SP54750,SP54967,SP55019,SP55056 dgv4475n71 2 241142671 241169808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876156,nsv876159 M 6533 0 2 ANKMY1,DUSP28,RNPEPL1 SP54725,SP54956 nsv876157 2 241142671 241220457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584773 S 6533 0 1 ANKMY1,CAPN10,DUSP28,GPR35,RNPEPL1 IS37172 nsv821937 2 241145067 241148258 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437333 S 31 1 0 ANKMY1,DUSP28 NA18949 nsv876160 2 241145240 241184063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510673 S 6533 0 1 ANKMY1,CAPN10,DUSP28,RNPEPL1 SP54988 nsv821938 2 241146977 241149613 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424775 S 31 1 0 DUSP28 NA18968 dgv4476n71 2 241147750 241165289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876162,nsv876161 M 6533 0 4 DUSP28,RNPEPL1 SP54591,SP54593,SP81005,SP81010 nsv821939 2 241153685 241154514 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427386 S 31 0 1 "" AK8 nsv876163 2 241155342 241166778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514266 S 6533 0 1 RNPEPL1 SP55992 nsv470529 2 241155342 241233954 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547306 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAPN10,GPR35,RNPEPL1 HGDP00661 nsv482062 2 241156777 241166814 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558423 S 1 1 0 RNPEPL1 KB1 dgv4477n71 2 241181631 241304217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876168,nsv876164 M 6533 0 2 AQP12A,AQP12B,CAPN10,GPR35,KIF1A MS13770,MS21124 nsv10227 2 241193949 241208176 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28674 S 31 1 0 Samples from several populations that are part of the HapMap project. GPR35 NA18980 nsv3240 2 241206026 241237656 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6915 S 9 1 0 GPR35 NA12156 nsv876165 2 241207609 241234868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592120 S 6533 0 1 GPR35 IS39233 dgv4478n71 2 241207609 241241451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876170,nsv876173,nsv876166,nsv876171,nsv876172,nsv876167 M 6533 0 8 GPR35 IS32737,IS33162,IS34005,IS34235,IS35007,SP50159,SP54725,SP54988 nsv876169 2 241212412 241227781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509789 S 6533 0 1 GPR35 SP54956 esv29214 2 241213584 241214704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13607 S 451 0 3 GPR35 NA11931,NA12489,NA12828 nsv820464 2 241213584 241214704 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420298 S 1 1 0 GPR35 NA10851 esv1170354 2 241214371 241214371 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622844 S 2 1 0 GPR35 HuRef esv1425277 2 241214412 241214412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055328 S 2 1 0 GPR35 HuRef nsv460159 2 241218002 241242617 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536765 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR35 HGDP00407 esv2289773 2 241228042 241228458 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962567 S 1 0 1 "" NA18507 nsv7337 2 241231157 241319817 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2321,nssv9592,nssv6916,nssv10278,nssv1581,nssv4515,nssv2320 M 9 0 0 AQP12A,AQP12B,KIF1A NA12156,NA12878,NA18507,NA18555,NA18956,NA19240 nsv460160 2 241232349 241241830 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536766 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00684 nsv876174 2 241232349 241262922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534681 S 6533 0 1 "" MS11726 nsv470530 2 241234868 241332581 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547307,nssv547308 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AQP12A,AQP12B,KIF1A HGDP00691,HGDP01255 dgv4479n71 2 241250420 241330437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876175,nsv876179 M 6533 0 2 AQP12A,AQP12B,KIF1A IS37646,MS10698 nsv876177 2 241250420 241364978 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549632,nssv1586634,nssv1600455,nssv1570980,nssv1598479 M 6533 4 1 AQP12A,AQP12B,KIF1A IS32395,IS37889,IS40956,IS41887,MS18276 dgv4480n71 2 241250420 241383427 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876178,nsv876176 M 6533 0 2 AQP12A,AQP12B,KIF1A IS35007,IS40799 nsv460162 2 241250420 241383427 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536768 S 1557 1 0 AQP12A,AQP12B,KIF1A 1780854219_A nsv876180 2 241266346 241292679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499181 S 6533 0 1 AQP12A,AQP12B SP50159 dgv4481n71 2 241266346 241364978 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876181,nsv876182 M 6533 2 0 AQP12A,AQP12B,KIF1A IS38399,IS39527 nsv499422 2 241270542 241280858 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585537 S 9 0 0 AQP12A,AQP12B nsv470531 2 241272566 241516747 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547311,nssv547309,nssv547310,nssv547313 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGXT,AQP12A,C2orf54,KIF1A HGDP00543,HGDP00550,HGDP00661,HGDP00978 nsv519624 2 241272567 241325449 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657207,nssv689126,nssv702547 M 2026 2 1 AQP12A,KIF1A nsv460165 2 241272567 241357348 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536769 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AQP12A,KIF1A HGDP01255 nsv527844 2 241272567 241364978 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704342 S 2026 1 0 AQP12A,KIF1A dgv4482n71 2 241274730 241483327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876186,nsv876183 M 6533 0 2 AGXT,AQP12A,C2orf54,KIF1A IS32322,IS39233 nsv876184 2 241276601 241303711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509790 S 6533 0 1 AQP12A,KIF1A SP54956 nsv876185 2 241277527 241353054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537057 S 6533 0 1 AQP12A,KIF1A MS13095 nsv482063 2 241279935 241286572 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558424 S 1 1 0 AQP12A KB1 nsv213429 2 241281922 241282108 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232007 M 24 AQP12A nsv876187 2 241296015 241330437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546402 S 6533 0 1 KIF1A MS17208 nsv876188 2 241304217 241393045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543396 S 6533 0 1 KIF1A MS16153 dgv4483n71 2 241315301 241387890 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876190,nsv876189 M 6533 0 3 KIF1A IS32841,IS33162,IS33504 esv22650 2 241320138 241321138 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16856 S 451 1 0 KIF1A NA12044 nsv460166 2 241324642 241371118 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536770 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIF1A HGDP00865 nsv876191 2 241332858 241362102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500179 S 6533 0 1 KIF1A SP50159 nsv834587 2 241364566 241437625 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442645,nssv1442644 M 95 2 0 KIF1A nsv526010 2 241364978 241378666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702238 S 2026 0 1 KIF1A esv23353 2 241366399 241370159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19427 S 451 0 1 KIF1A NA18858 esv1760899 2 241367836 241367836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119109 S 2 1 0 KIF1A HuRef esv1477251 2 241374868 241374868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680882 S 2 1 0 KIF1A HuRef nsv460167 2 241398817 241606350 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536771 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGXT,C2orf54,KIF1A,LOC200772,SNED1 HGDP00341 dgv4484n71 2 241399117 241470380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876197,nsv876192 M 6533 0 2 AGXT,KIF1A MS10123,MS18276 dgv4485n71 2 241399117 241516747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876198,nsv876193,nsv876199,nsv876200 M 6533 0 4 AGXT,C2orf54,KIF1A IS33504,IS33665,IS37646,IS38176 dgv4486n71 2 241399117 241570855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876194,nsv876201,nsv876205 M 6533 0 3 AGXT,C2orf54,KIF1A,LOC200772 IS32888,IS35484,IS38293 dgv4487n71 2 241399117 241606350 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876203,nsv876195,nsv876202 M 6533 0 3 AGXT,C2orf54,KIF1A,LOC200772,SNED1 IS33248,IS34304,IS41243 esv2568669 2 241400682 241401267 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265667 S 1 1 0 KIF1A NA18507 nsv512790 2 241401076 241401827 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625423 S 1 1 0 KIF1A 1 esv22959 2 241407206 241408572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11544 S 451 0 1 KIF1A NA12489 nsv876196 2 241414629 241447939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500250 S 6533 1 0 "" SP50084 esv2557213 2 241429953 241431991 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339280 S 1 0 1 "" NA18507 nsv511847 2 241430435 241431943 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626504 S 1 0 1 "" 1 esv1968088 2 241430472 241430921 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533754 S 1 0 1 "" NA18507 esv2394489 2 241430557 241431605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787356 S 1 0 1 "" NA18507 esv28805 2 241430586 241432362 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21253 S 451 1 0 "" NA15510 esv1660020 2 241431136 241431434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288516 S 2 0 1 "" HuRef nsv876204 2 241431488 241677414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546519 S 6533 0 1 AGXT,C2orf54,LOC200772,MTERFD2,SNED1 MS17208 esv988378 2 241438433 241438433 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568514 S 3 1 0 "" HuRef dgv4488n71 2 241447939 241499850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876207,nsv876206 M 6533 0 3 AGXT,C2orf54 IS37577,IS37985,IS41410 nsv876208 2 241447939 241543006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533738 S 6533 0 1 AGXT,C2orf54,LOC200772 MS11306 nsv876209 2 241456635 241467410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514267 S 6533 0 1 AGXT SP55992 esv1196389 2 241460413 241460413 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923363 S 2 1 0 AGXT HuRef esv1710219 2 241460437 241460437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311327 S 2 1 0 AGXT HuRef nsv876210 2 241463198 241487177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510675 S 6533 0 1 AGXT,C2orf54 SP54988 nsv876211 2 241472126 241499850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537058 S 6533 0 1 C2orf54 MS13095 nsv460168 2 241472126 241509584 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536772 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2orf54 HGDP00696 dgv4489n71 2 241475190 241543006 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876212,nsv876214,nsv876213 M 6533 0 4 C2orf54,LOC200772 IS32737,MS12262,MS16153,MS18276 nsv519993 2 241484105 241487177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676749,nssv691112,nssv659989 M 2026 0 3 C2orf54 dgv4490n71 2 241489384 241595795 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876218,nsv876215,nsv876217 M 6533 0 3 LOC200772,SNED1 IS32322,IS39233,MS13770 esv995343 2 241495018 241495095 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582952 S 3 0 1 "" HuRef nsv511848 2 241495492 241497504 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626505 S 1 0 1 "" 1 esv24298 2 241495557 241497472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13627 S 451 0 11 "" NA11993,NA11995,NA12287,NA12489,NA18508,NA18523,NA18909,NA18916,NA19114,NA19147,NA19190 nsv876216 2 241499850 241567146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592792 S 6533 0 1 LOC200772 IS39258 nsv876219 2 241507928 241628796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532371 S 6533 0 1 LOC200772,SNED1 MS10769 nsv511162 2 241509584 241521395 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626132 S 1 0 1 "" 1 esv29869 2 241511391 241513609 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15041,esv14354 M 451 1 8 "" NA07045,NA12044,NA18505,NA18508,NA18858,NA18916,NA19147,NA19190,NA19240 esv1057772 2 241512933 241512984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161724 S 2 0 1 "" HuRef nsv821940 2 241523651 241534279 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434972 S 31 0 1 "" NA18942 dgv4491n71 2 241549379 241606350 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876221,nsv876220 M 6533 0 2 LOC200772,SNED1 MS11726,MS13095 nsv821941 2 241557682 241570547 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434973 S 31 0 1 "" NA18942 nsv820947 2 241563280 241571809 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420299 S 1 0 1 "" NA10851 esv22673 2 241563538 241570869 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17947 S 451 12 1 "" NA11894,NA11995,NA12239,NA12776,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA19190,NA19225,NA19240 esv1103677 2 241564394 241565159 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955452 S 2 0 1 "" HuRef esv1558988 2 241565439 241566429 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820345 S 2 0 1 "" HuRef esv1757670 2 241567859 241568354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039551 S 2 0 1 "" HuRef esv1207699 2 241568407 241568812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148536 S 2 0 1 "" HuRef esv1640241 2 241572911 241573345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122741 S 2 0 1 "" HuRef esv1675084 2 241573804 241573804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946596 S 2 1 0 "" HuRef esv1359552 2 241603857 241603857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671679 S 2 1 0 SNED1 HuRef esv1654437 2 241640815 241640815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779355 S 2 1 0 SNED1 HuRef esv2200022 2 241656220 241656618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868790 S 1 0 1 SNED1 NA18507 esv2077609 2 241681443 241681810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552764 S 1 0 1 MTERFD2,SNED1 NA18507 nsv213970 2 241681505 241681589 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232548 M 24 MTERFD2,SNED1 esv1931784 2 241696960 241697318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937650 S 1 0 1 PASK NA18507 nsv214964 2 241697022 241697103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233542 M 24 PASK nsv3241 2 241746357 241778755 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6917 S 9 1 0 ANO7,PPP1R7 NA12156 esv26576 2 241761513 241762439 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18440 S 451 0 1 PPP1R7 NA11993 dgv4492n71 2 241762492 241822589 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876224,nsv876222 M 6533 0 2 ANO7,HDLBP,PPP1R7 MS16153,MS17208 nsv508900 2 241766062 241832874 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621191 S 4 1 0 ANO7,HDLBP,PPP1R7 NA15510 esv2423265 2 241766443 241767052 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212761 S 1 1 0 PPP1R7 NA18507 nsv512791 2 241766725 241766916 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625424 S 1 1 0 PPP1R7 1 nsv527790 2 241772962 241812032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704282 S 2026 0 1 ANO7 nsv876223 2 241772962 241812032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575003 S 6533 0 1 ANO7 IS33684 nsv524008 2 241772962 241841521 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699868 S 2026 1 0 ANO7,HDLBP nsv470532 2 241783475 241822589 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547314 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANO7,HDLBP HGDP00661 nsv521716 2 241786375 241812032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694477 S 2026 0 1 ANO7 esv26159 2 241792338 241795357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12252 S 451 0 3 ANO7 NA11995,NA12828,NA18916 esv2647088 2 241793094 241795445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193428 S 1 0 1 ANO7 NA18507 nsv513025 2 241793486 241795652 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626506 S 1 0 1 ANO7 1 esv1000552 2 241793867 241794652 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571517 S 3 0 1 ANO7 HuRef esv1409539 2 241793943 241794061 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803531 S 2 0 1 ANO7 HuRef esv1480304 2 241794065 241794911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287049 S 2 0 1 ANO7 HuRef esv1026368 2 241795230 241795288 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106012 S 2 0 1 ANO7 HuRef esv995493 2 241795233 241795290 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582187 S 3 0 1 ANO7 HuRef nsv214015 2 241795311 241795368 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232593 M 24 ANO7 nsv3242 2 241802710 241835225 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5859 S 9 1 0 ANO7,HDLBP NA19129 nsv215143 2 241820027 241820076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233721 M 24 HDLBP esv2445970 2 241913635 241915008 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363681 S 1 0 1 SEPT2 NA18507 esv2307098 2 241914431 241914846 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754256 S 1 0 1 SEPT2 NA18507 esv3816 2 241914477 241914925 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26257 S 1 0 1 Single Asian sample YH SEPT2 YH nsv876225 2 241942042 242031537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573147 S 6533 1 0 FARP2,SEPT2 IS33243 nsv3244 2 241947472 241992375 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7640 S 9 0 1 FARP2 NA12156 esv25720 2 241954276 241957735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13754 S 451 0 2 FARP2 NA18502,NA19108 esv269060 2 242010922 242011007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515614 S 157 1 0 Samples from several populations that are part of the HapMap project. FARP2 NA12815 nsv876226 2 242045794 242951149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530470 S 6533 0 1 ATG4B,BOK,BOK-AS1,C2orf85,D2HGDH,DTYMK,FARP2,GAL3ST2,ING5,LOC728323,NEU4,PDCD1,STK25,THAP4 MS10311 dgv1296e1 2 242068628 242150331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv284,essv1158 M 271 0 0 BOK,BOK-AS1,FARP2,STK25 NA18951 nsv834588 2 242086357 242201947 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442651,nssv1442647,nssv1442650,nssv1442646,nssv1442648,nssv1442649 M 95 0 6 BOK,BOK-AS1,STK25,THAP4 nsv10229 2 242095474 242097612 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12360 S 31 1 0 Samples from several populations that are part of the HapMap project. STK25 NA19221 esv8725 2 242104762 242105306 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31166 S 1 0 1 "" SJK dgv4493n71 2 242112577 242565979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876227,nsv876233 M 6533 0 2 ATG4B,BOK,BOK-AS1,C2orf85,D2HGDH,DTYMK,GAL3ST2,ING5,NEU4,PDCD1,THAP4 IS32322,IS37646 nsv876228 2 242119149 242157685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510676 S 6533 0 1 BOK,BOK-AS1 SP54988 nsv876229 2 242119149 242233363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592793 S 6533 0 1 ATG4B,BOK,BOK-AS1,THAP4 IS39258 dgv4494n71 2 242119149 242417584 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876234,nsv876230,nsv876232,nsv876235,nsv876238 M 6533 0 7 ATG4B,BOK,BOK-AS1,D2HGDH,DTYMK,GAL3ST2,ING5,NEU4,THAP4 IS32841,IS33504,IS33684,IS33797,IS38176,IS39233,MS18276 esv270401 2 242121825 242125548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517194 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 dgv4495n71 2 242126130 242692820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876241,nsv876231,nsv876252 M 6533 0 3 ATG4B,BOK,BOK-AS1,C2orf85,D2HGDH,DTYMK,GAL3ST2,ING5,LOC728323,NEU4,PDCD1,THAP4 IS35484,IS40799,MS17208 esv2634239 2 242153536 242156294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180676 S 1 0 1 BOK NA18507 esv2233361 2 242154655 242156213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846175 S 1 0 1 BOK NA18507 esv9037 2 242154740 242155987 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31478 S 1 0 1 BOK SJK esv27771 2 242154846 242156009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16437 S 451 0 7 BOK NA12006,NA12828,NA18505,NA18508,NA18517,NA18858,NA19225 esv27015 2 242158351 242159398 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12666,esv21313 M 451 10 0 BOK NA06985,NA11993,NA12156,NA12828,NA15510,NA18502,NA19099,NA19114,NA19190,NA19257 dgv165e55 2 242164778 242663303 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751854,esv2751855,esv2751856,esv2751846,esv2751847,esv2751848,esv2751849,esv2751850,esv2751851,esv2751852,esv2751853,esv2751857,esv2751858,esv2751859 M 771 0 14 ATG4B,C2orf85,D2HGDH,DTYMK,GAL3ST2,ING5,NEU4,PDCD1,THAP4 BEC_236,BEC_32,BEC_448,BEC_541,BEC_567,BEC_587,BEC_593,BEC_647,BEC_649,BEC_667,BEC_707,BEC_718,BEC_785,SPC_163 esv21920 2 242177893 242179344 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15253 S 451 27 0 THAP4 NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1008655 2 242178443 242178634 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573643 S 3 0 1 THAP4 HuRef dgv4496n71 2 242184181 242374425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876239,nsv876240,nsv876237,nsv876236 M 6533 0 4 ATG4B,D2HGDH,DTYMK,GAL3ST2,ING5,THAP4 IS39417,IS41317,MS16153,SP54956 esv1033771 2 242184622 242184622 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793572 S 2 1 0 THAP4 HuRef nsv508901 2 242205457 242311887 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619311 S 4 1 0 ATG4B,DTYMK,ING5,THAP4 NA10860 nsv876242 2 242252320 242366419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584774,nssv1532372 M 6533 0 2 ATG4B,D2HGDH,DTYMK,GAL3ST2,ING5 IS37172,MS10769 dgv4497n71 2 242252320 242417584 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876251,nsv876243,nsv876245,nsv876244,nsv876246 M 6533 0 6 ATG4B,D2HGDH,DTYMK,GAL3ST2,ING5,NEU4 IS30369,IS32737,IS38293,IS40230,MS10698,MS16315 nsv512792 2 242282015 242283246 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625425 S 1 1 0 "" 1 esv2472473 2 242282706 242283387 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356902 S 1 1 0 "" NA18507 dgv4498n71 2 242285246 242329272 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876247,nsv876248 M 6533 0 2 D2HGDH,ING5 SP54725,SP55021 nsv876249 2 242295743 242359608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576673 S 6533 0 1 D2HGDH,ING5 IS34235 nsv876250 2 242295743 242392616 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549182,nssv1531150 M 6533 2 0 D2HGDH,GAL3ST2,ING5 MS10351,MS18123 nsv876253 2 242300801 242323744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505934 S 6533 0 1 D2HGDH,ING5 SP54043 nsv10230 2 242327569 242343931 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11864 S 31 0 1 Samples from several populations that are part of the HapMap project. D2HGDH NA18517 nsv876254 2 242335548 242412215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510677 S 6533 0 1 D2HGDH,GAL3ST2,NEU4 SP54988 nsv876255 2 242341073 242565979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537060 S 6533 0 1 C2orf85,D2HGDH,GAL3ST2,NEU4,PDCD1 MS13095 esv1249069 2 242348206 242348206 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136052 S 2 1 0 D2HGDH HuRef esv1008074 2 242351131 242362444 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564501 S 3 0 1 D2HGDH HuRef esv23937 2 242353345 242355715 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10712 S 451 21 0 D2HGDH NA11894,NA11931,NA11995,NA12004,NA12239,NA12489,NA12749,NA12776,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19108,NA19114,NA19225,NA19257 esv988977 2 242353435 242355660 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586503 S 3 1 0 D2HGDH HuRef nsv513026 2 242353571 242355635 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626507 S 1 0 1 D2HGDH 1 nsv10231 2 242358774 242361618 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29016,nssv28571,nssv28950,nssv11894 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12740,NA18517 esv33634 2 242359273 242360030 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101456,essv99341 M 51 0 2 "" 21603,22275 nsv10232 2 242384149 242436468 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11652,nssv28980,nssv11888,nssv12390,nssv28951,nssv28505 M 31 4 2 Samples from several populations that are part of the HapMap project. GAL3ST2,NEU4 NA07048,NA10839,NA10863,NA12155,NA18502,NA19221 dgv4499n71 2 242392616 242594836 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876256,nsv876257 M 6533 2 0 C2orf85,NEU4,PDCD1 MS15307,SP57604 nsv435720 2 242392918 242398176 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465976 S 2 0 1 "" NA15510 esv24188 2 242393230 242397834 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20091 S 451 14 7 "" NA11894,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12828,NA18502,NA18505,NA18508,NA18523,NA18861,NA18907,NA18916,NA19099,NA19225,NA19240,NA19257 esv2439373 2 242393358 242398163 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253423 S 1 0 1 "" NA18507 esv1610068 2 242393449 242393608 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4035111 S 2 0 1 "" HuRef esv1345506 2 242393624 242395214 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665505 S 2 0 1 "" HuRef esv4746 2 242400432 242400864 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27187 S 1 0 1 Single Asian sample YH NEU4 YH esv989515 2 242402254 242402254 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567976 S 3 1 0 NEU4 HuRef nsv470533 2 242406851 242692820 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547322,nssv547338,nssv547336,nssv547327,nssv547315,nssv547341,nssv547318,nssv547317,nssv547316,nssv547324,nssv547320,nssv547328,nssv547331,nssv547329,nssv547330,nssv547337,nssv547339,nssv547319,nssv547321,nssv547332,nssv547335,nssv547333,nssv547326,nssv547325,nssv547340 M 443 0 25 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2orf85,LOC728323,NEU4,PDCD1 HGDP00052,HGDP00057,HGDP00062,HGDP00288,HGDP00290,HGDP00351,HGDP00388,HGDP00474,HGDP00559,HGDP00575,HGDP00580,HGDP00583,HGDP00619,HGDP00628,HGDP00645,HGDP00676,HGDP00677,HGDP00678,HGDP00690,HGDP00879,HGDP00892,HGDP01365,HGDP01403,HGDP01411,HGDP01413 esv2530619 2 242408995 242411206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219392 S 1 0 1 "" NA18507 nsv513027 2 242409047 242411066 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626508 S 1 0 1 "" 1 esv28906 2 242409429 242411154 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11015 S 451 1 0 "" NA11995 dgv4500n71 2 242429063 242656041 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876264,nsv876260,nsv876262,nsv876261,nsv876259,nsv876258,nsv876263 M 6533 0 23 C2orf85,PDCD1 IS30645,IS30653,IS31054,IS31553,IS33143,IS33258,IS33361,IS33959,IS34141,IS35412,IS35670,IS36241,IS37775,IS37909,IS38388,IS38575,IS40105,IS40581,IS40618,IS40635,IS41576,IS41657,SP57062 dgv4501n71 2 242429063 242692820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876265,nsv876267 M 6533 0 71 C2orf85,LOC728323,PDCD1 IS30152,IS30177,IS30235,IS30243,IS30336,IS30522,IS30720,IS30771,IS30883,IS30884,IS31300,IS31335,IS31338,IS31546,IS32653,IS33340,IS33776,IS33846,IS34491,IS34909,IS35261,IS35378,IS35471,IS35877,IS35895,IS35954,IS36051,IS36423,IS36647,IS36657,IS37116,IS37248,IS37443,IS37995,IS38060,IS38137,IS38378,IS38410,IS38411,IS38507,IS38549,IS38665,IS38972,IS39057,IS39061,IS39453,IS39473,IS39650,IS40012,IS40103,IS40402,IS40660,IS40877,IS40940,IS40966,IS40989,IS41511,IS41525,IS41838,IS41892,IS41955,MS10510,MS11171,MS12561,MS15714,MS16573,MS21758,MS21937,MS22279,MS25674,SP54467 nsv876266 2 242429063 242951149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584227,nssv1534331,nssv1553570,nssv1575801,nssv1585462,nssv1545157,nssv1566985,nssv1599287 M 6533 0 8 C2orf85,LOC728323,PDCD1 IS31041,IS33811,IS36910,IS37467,IS41549,MS11550,MS16704,MS20195 esv27352 2 242437408 242439788 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11755 S 451 2 1 "" NA11894,NA18502,NA18505 nsv821434 2 242437408 242439788 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420300 S 1 0 1 "" NA10851 esv1686362 2 242438535 242438785 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195675 S 2 0 1 "" HuRef esv1707927 2 242439048 242439148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202025 S 2 0 1 "" HuRef esv1678452 2 242439279 242439279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126087 S 2 1 0 "" HuRef nsv821942 2 242446553 242447488 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429677,nssv1430461 M 31 2 0 PDCD1 AK14,AK16 esv2121742 2 242465808 242466193 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802507 S 1 0 1 "" NA18507 esv1736282 2 242465821 242465821 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606321 S 2 1 0 "" HuRef esv990345 2 242476685 242479906 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565242 S 3 1 0 "" HuRef esv2619806 2 242478594 242479131 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186817 S 1 1 0 "" NA18507 esv989996 2 242487347 242488582 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564263 S 3 1 0 "" HuRef esv21498 2 242503102 242710346 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15916,esv20734,esv9847,esv19939,esv13818,esv12082,esv11267,esv10308,esv16831,esv20847 M 451 34 20 LOC728323 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2421480 2 242506744 242738129 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5074239,essv5117401,essv5132862,essv5105424,essv5023665,essv5062217,essv5082988,essv5095633,essv5032965,essv5135820,essv5149245,essv5111155,essv5120421,essv5033425,essv5106409,essv5068819,essv5101142,essv5071535,essv5084726 M 1184 0 19 LOC728323 NA06997,NA07045,NA12248,NA12283,NA12760,NA12813,NA12875,NA19147,NA19148,NA19376,NA20340,NA20510,NA20582,NA20819,NA20828,NA20866,NA20870,NA20892,NA21117 esv1565686 2 242512656 242512976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646041 S 2 0 1 "" HuRef esv1023491 2 242513270 242513333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671516 S 2 0 1 "" HuRef esv991563 2 242514036 242514086 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568014 S 3 0 1 "" HuRef esv1444162 2 242514091 242514142 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310320 S 2 0 1 "" HuRef nsv876268 2 242536018 242575231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501953,nssv1505460 M 6533 2 0 "" SP51069,SP53528 dgv1298e1 2 242552130 242720642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22910,essv6867,essv19943,essv21723,essv6380 M 271 0 0 LOC728323 NA12248,NA12760,NA12813,NA18572,NA18605 nsv428411 2 242552130 242720642 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454205,nssv454206 M 62 0 2 LOC728323 HGDP00474,NA19147 nsv876269 2 242556336 242602539 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501409 S 6533 1 0 "" SP51158 esv2084831 2 242559428 242559815 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924471 S 1 0 1 "" NA18507 nsv460171 2 242565979 242602539 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536773 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00855 dgv496n27 2 242565979 242625553 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460175,nsv460259,nsv460174 M 1557 0 3 "" 1780854340_A,HGDP00035,NINDS_53 dgv497n27 2 242565979 242653950 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460181,nsv460179,nsv460252,nsv460182,nsv460185,nsv460176,nsv460180,nsv460262,nsv460178,nsv460177,nsv460260,nsv460183 M 1557 0 12 "" 1780854384_A,1780854401_A,1788485589_A,HGDP00062,HGDP00351,HGDP00372,HGDP00575,HGDP00619,HGDP00645,HGDP00730,HGDP00732,NINDS_179 nsv818120 2 242565979 242656041 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415622,nssv1416038 M 112 0 2 "" NA12248,NA12813 dgv498n27 2 242565979 242692820 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460222,nsv460218,nsv460189,nsv460237,nsv460282,nsv460194,nsv460288,nsv460271,nsv460236,nsv460205,nsv460220,nsv460223,nsv460229,nsv460216,nsv460231,nsv460247,nsv460193,nsv460209,nsv460196,nsv460224,nsv460202,nsv460227,nsv460201,nsv460207,nsv460215,nsv460204,nsv460286,nsv460246,nsv460212,nsv460190,nsv460214,nsv460234,nsv460275,nsv460199,nsv460203,nsv460191,nsv460187,nsv460245,nsv460244,nsv460219,nsv460211,nsv460257,nsv460264,nsv460213,nsv460255,nsv460249,nsv460188,nsv460287,nsv460208,nsv460256,nsv460192,nsv460226,nsv460240,nsv460266,nsv460248,nsv460200,nsv460232,nsv460230,nsv460197,nsv460281,nsv460254,nsv460235,nsv460253,nsv460269,nsv460273,nsv460270,nsv460263,nsv460233,nsv460241,nsv460198,nsv460280,nsv460267,nsv460238,nsv460265,nsv460225,nsv460221,nsv460278,nsv460186,nsv460285,nsv460210,nsv460242,nsv460268,nsv460279,nsv460243 M 1557 0 84 LOC728323 1780854184_A,1780854238_A,1780854253_A,1780854463_A,1780854480_A,1780854489_A,1780854496_A,1780854511_A,1780854524_A,1780854530_A,1780854532_A,1780854576_A,1780854585_A,1780862002_A,1780862021_A,1780862041_A,1780862094_A,1780862108_A,1780862123_A,1780862161_A,1780862311_A,1780862480_A,1780862516_A,1780862528_A,1780862539_A,1780862595_A,1782681096_A,HGDP00017,HGDP00027,HGDP00037,HGDP00057,HGDP00134,HGDP00135,HGDP00137,HGDP00139,HGDP00148,HGDP00155,HGDP00208,HGDP00290,HGDP00307,HGDP00336,HGDP00371,HGDP00388,HGDP00392,HGDP00402,HGDP00407,HGDP00428,HGDP00474,HGDP00559,HGDP00580,HGDP00628,HGDP00676,HGDP00677,HGDP00678,HGDP00685,HGDP00724,HGDP00733,HGDP00879,HGDP00884,HGDP00892,HGDP00896,HGDP01171,HGDP01403,NINDS_10,NINDS_106,NINDS_111,NINDS_116,NINDS_158,NINDS_172,NINDS_173,NINDS_178,NINDS_19,NINDS_214,NINDS_221,NINDS_237,NINDS_243,NINDS_255,NINDS_256,NINDS_266,NINDS_35,NINDS_41,NINDS_44,NINDS_45,NINDS_54 esv33229 2 242566462 242686974 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97523,essv94834,essv97920,essv95346,essv99897,essv96001,essv93533,essv96564 M 51 1 7 LOC728323 21616,21791,21837,21872,22086,22127,22128,22261 nsv469780 2 242566737 242720633 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649801 M 265 0 0 Samples from several populations that are part of the HapMap project. LOC728323 nsv471619 2 242566738 242720633 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550531,nssv550530,nssv550532 M 48 0 3 LOC728323 NA10495,NA15726,NA15730 nsv10233 2 242566824 242597798 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28736,nssv29128,nssv29010,nssv28299,nssv28575 M 31 4 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA11830,NA18572,NA19240 esv34605 2 242566921 242662921 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979568,essv6979567,essv6986891 M 771 1 0 "" NA18572 dgv167e55 2 242566921 242663303 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751875,esv2751877,esv34822,esv2751872,esv35117,esv2751871,esv2751873,esv2751874,esv2751876,esv2751878,esv2751879,esv2751880,esv2751881,esv2751882,esv2751883,esv2751884,esv2751885,esv2751886 M 771 0 18 "" BEC_148,BEC_175,BEC_343,BEC_416,BEC_522,BEC_605,BEC_665,BEC_719,BEC_755,BEC_91,NA12248,NA12813,SPC_133,SPC_157,SPC_195,SPC_39,SPC_42,SPC_66 nsv460258 2 242568437 242593982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536859 S 1557 0 1 "" 1798860587_A nsv876270 2 242568437 242692820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578334 S 6533 0 1 LOC728323 IS34760 esv2562104 2 242575463 242576909 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208100 S 1 0 1 "" NA18507 dgv1299e1 2 242575708 242663303 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6518,essv18810,essv17414 M 271 0 0 "" NA12248,NA12760,NA18572 esv1129157 2 242576123 242576177 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647429 S 2 0 1 "" HuRef esv1130732 2 242576387 242576387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133740 S 2 1 0 "" HuRef nsv213662 2 242576388 242576441 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv232240 M 24 "" esv2467356 2 242578105 242578728 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230619 S 1 1 0 "" NA18507 nsv820104 2 242578360 242578761 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418938 S 2 1 0 "" AK1 esv4158 2 242580569 242581377 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26599 S 1 0 1 Single Asian sample YH "" YH dgv499n27 2 242581582 242692820 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460274,nsv460289 M 1557 2 0 LOC728323 HGDP00234,HGDP00237 dgv500n27 2 242583251 242593982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460276,nsv460277 M 1557 0 2 "" HGDP00687,HGDP01071 dgv4502n71 2 242591551 242653950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876272,nsv876271,nsv876273 M 6533 0 3 "" IS40955,MS13240,MS15060 esv1001719 2 242594290 242594549 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570017 S 3 0 1 "" HuRef nsv3245 2 242595356 242620287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6918,nssv11033,nssv3054,nssv5860 M 9 4 0 "" NA12156,NA15510,NA18555,NA19129 nsv3246 2 242595981 242624950 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2322 S 9 0 1 "" NA18555 esv2549138 2 242596804 242601721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195883 S 1 0 1 "" NA18507 nsv821575 2 242597003 242602144 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420301 S 1 0 1 "" NA10851 nsv229 2 242597164 242610705 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv229 S 1 1 0 "" NA15510 nsv10234 2 242597205 242602248 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29040,nssv29001,nssv28527,nssv28479,nssv27827,nssv28774,nssv29158,nssv29046,nssv28813,nssv11924,nssv29175,nssv28349,nssv11863,nssv28751,nssv28981,nssv28615,nssv11751,nssv28714,nssv11682,nssv28874,nssv28715,nssv12420,nssv28335,nssv28091,nssv12503,nssv28664 M 31 26 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA11830,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221,NA19240 nsv214845 2 242598229 242598438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv233423 M 24 "" esv1049514 2 242600017 242600143 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706976 S 2 0 1 "" HuRef nsv10235 2 242601453 242710688 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28843,nssv29076,nssv28597,nssv28398 M 31 3 1 Samples from several populations that are part of the HapMap project. LOC728323 NA12740,NA18552,NA18572,NA19144 nsv514126 2 242601632 242602800 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627464 S 1414 0 1 "" esv29953 2 242602220 242701038 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84192 S 3 0 1 LOC728323 WATSON dgv4504n71 2 242602539 242692820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876275,nsv876276 M 6533 0 2 LOC728323 IS30409,IS32999 esv2400432 2 242612093 242613018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759425 S 1 0 1 "" NA18507 esv1250871 2 242612892 242612892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998107 S 2 1 0 "" HuRef esv2478598 2 242637143 242638912 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205691 S 1 0 1 "" NA18507 nsv441806 2 242669783 242683188 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC728323 esv1778962 2 242673356 242674060 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025987 S 2 0 1 "" HuRef nsv438385 2 242675168 242695936 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471220 S 269 0 1 Samples from several populations that are part of the HapMap project. LOC728323 NA18605 nsv514985 2 242677072 242677648 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628486 S 1414 0 0 "" esv994430 2 242721423 242721423 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579376 S 3 1 0 LOC728323 HuRef esv26327 2 242733479 242751106 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13060 S 451 1 0 LOC728323 NA18502 nsv912549 20 1 45122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593457 S 6533 0 1 DEFB125 IS39417 dgv4505n71 20 1 73121 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912551,nsv912550 M 6533 3 0 DEFB125,DEFB126 IS30039,IS39643,IS40373 dgv4506n71 20 1 118642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912553,nsv912552 M 6533 3 0 DEFB125,DEFB126,DEFB127,DEFB128 IS40573,IS40635,IS40831 dgv1300e1 20 8001 11943 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23850,esv226 M 271 0 0 "" NA07022 nsv428373 20 8001 11943 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453813,nssv453814,nssv453812 M 62 1 2 "" HGDP00449,HGDP01093,HGDP01094 esv2751910 20 17408 161523 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987905,essv6981069,essv6981068 M 771 0 1 DEFB125,DEFB126,DEFB127,DEFB128,DEFB129 BEC_348 nsv912554 20 28655 168303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587228 S 6533 1 0 DEFB126,DEFB127,DEFB128,DEFB129 IS37996 dgv65n68 20 37210 226388 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv833889,nsv833890 M 95 0 3 C20orf96,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,ZCCHC3 nsv469544 20 37210 226388 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649654 M 265 0 4 Samples from several populations that are part of the HapMap project. C20orf96,DEFB126,DEFB127,DEFB128,DEFB129,DEFB132,ZCCHC3 dgv4507n71 20 45122 118642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912555,nsv912556 M 6533 2 0 DEFB126,DEFB127,DEFB128 IS40098,IS40622 nsv520277 20 48505 73121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662326,nssv693467 M 2026 0 2 DEFB126 nsv527749 20 48505 87456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704235 S 2026 0 1 DEFB126,DEFB127 nsv510776 20 53516 119026 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620160 S 4 0 1 DEFB126,DEFB127,DEFB128 NA15510 nsv912557 20 75720 139797 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563749 S 6533 1 0 DEFB127,DEFB128 IS30063 esv1001134 20 77653 77653 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579119 S 3 1 0 "" HuRef nsv179018 20 77862 77862 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197596 M 24 "" nsv510478 20 89562 95562 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618450 S 4 0 1 "" CHM nsv179938 20 126747 130573 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198516 M 24 "" nsv458837 20 136107 175967 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535719 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFB129 HGDP00740 nsv828659 20 144559 145342 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434105 S 31 1 0 "" NA18526 nsv912558 20 178983 196064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518574,nssv1508134 M 6533 2 0 DEFB132 SP54661,SP57741 nsv3248 20 180658 209713 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7641 S 9 1 0 C20orf96,DEFB132 NA12156 esv33186 20 203239 203844 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95628 S 51 0 1 C20orf96 21841 esv32859 20 205041 205213 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98724,essv100798 M 51 2 0 C20orf96 21606,21656 esv1697851 20 234932 234932 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943383 S 2 1 0 "" HuRef nsv179732 20 264936 264986 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198310 M 24 "" nsv458838 20 277842 301085 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535720 S 1557 0 1 NRSN2 1780854479_A nsv912559 20 283225 328980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583395 S 6533 0 1 NRSN2,TRIB3 IS36458 nsv458839 20 292079 312747 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535721 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRIB3 HGDP00865 nsv470534 20 292079 312747 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547343,nssv547342 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRIB3 HGDP00854,HGDP00865 nsv510777 20 295493 345348 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617440 S 4 0 1 RBCK1,TRIB3 CHM nsv820741 20 296487 298842 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420078 S 1 0 1 "" NA10851 esv29613 20 296844 298842 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14155 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv458841 20 308789 350710 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535723 S 1557 0 1 RBCK1,TRIB3 1780862399_A nsv458842 20 308789 373434 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535724 S 1557 0 1 RBCK1,TBC1D20,TRIB3 1780862101_A dgv4508n71 20 312747 350440 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912560,nsv912561 M 6533 2 0 RBCK1,TRIB3 MS11487,SP52716 nsv912562 20 312747 363205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586273 S 6533 0 1 RBCK1,TRIB3 IS37713 nsv519415 20 318150 325226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683712,nssv678945,nssv656098,nssv674779 M 2026 0 4 TRIB3 esv2057444 20 321538 321950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608013 S 1 0 1 TRIB3 NA18507 nsv912563 20 325226 345928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511614 S 6533 0 1 RBCK1,TRIB3 SP55021 dgv4509n71 20 325226 433321 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912566,nsv912565,nsv912564 M 6533 3 0 CSNK2A1,RBCK1,TBC1D20,TRIB3 SP50561,SP52694,SP56012 nsv912567 20 332898 351653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502161 S 6533 0 1 RBCK1 SP51109 nsv912568 20 346278 381401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521302 S 6533 1 0 RBCK1,TBC1D20 SP52329 nsv510479 20 357706 363706 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622310 S 4 0 1 RBCK1 NA10860 nsv9774 20 366139 369960 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27088 S 31 1 0 Samples from several populations that are part of the HapMap project. TBC1D20 NA19240 nsv469833 20 376495 543442 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649854 M 265 8 0 Samples from several populations that are part of the HapMap project. CSNK2A1,TBC1D20,TCF15 esv2535181 20 381331 383050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194346 S 1 0 1 TBC1D20 NA18507 esv1050414 20 385229 385602 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595246 S 2 0 1 TBC1D20 HuRef nsv833891 20 396892 548706 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454890,nssv1454892,nssv1454891 M 95 2 1 CSNK2A1,TCF15 nsv828660 20 476959 479738 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427958 S 31 0 1 "" AK8 dgv239n21 20 478812 484429 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524791,nsv525394 M 2026 0 2 "" nsv3249 20 479488 513024 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3055 S 9 1 0 "" NA18555 nsv458844 20 527657 542780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535725 S 1557 0 1 TCF15 1780862574_A nsv912569 20 531587 542780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510561 S 6533 0 1 TCF15 SP54967 nsv458845 20 531587 553937 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535726 S 1557 0 1 TCF15 NINDS_23 dgv4510n71 20 534955 542780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912571,nsv912570,nsv912574 M 6533 0 9 TCF15 SP54042,SP54043,SP54591,SP54750,SP54774,SP54776,SP54979,SP55019,SP80982 dgv4511n71 20 534955 546694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912577,nsv912575,nsv912576,nsv912572 M 6533 0 4 TCF15 IS30369,SP54593,SP54988,SP81010 nsv912573 20 534955 604898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510394 S 6533 0 1 SCRT2,SRXN1,TCF15 SP54956 nsv828661 20 535617 540984 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431394 S 31 1 0 TCF15 NA18947 nsv458846 20 539694 558661 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535727 S 1557 0 1 "" 1780862306_A esv2222026 20 542251 542662 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943491 S 1 0 1 "" NA18507 esv1001027 20 542427 542480 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566255 S 3 0 1 "" HuRef esv2618496 20 542428 542481 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164928 S 1 0 1 "" NA18507 esv1656180 20 542433 542487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647732 S 2 0 1 "" HuRef nsv179474 20 542434 542487 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198052 M 24 "" dgv4512n71 20 565808 608793 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912579,nsv912578 M 6533 0 2 SCRT2,SRXN1 IS39417,IS40502 nsv513534 20 570502 571467 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625950 S 1 1 0 "" 1 esv24939 20 570529 571151 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18358 S 451 0 3 "" NA07037,NA18909,NA19147 nsv522812 20 573267 578970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698458 S 2026 0 1 SRXN1 nsv180505 20 573906 575159 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199083 M 24 "" nsv912580 20 586921 884945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579444 S 6533 1 0 ANGPT4,C20orf54,FAM110A,SCRT2 IS35100 nsv510480 20 623767 629767 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618451,nssv622311,nssv624239 M 4 0 3 "" CHM,NA10860,NA18994 nsv438305 20 634314 638325 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470748,nssv470749 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19153,NA19154 esv25777 20 648504 649194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19576 S 451 0 1 "" NA19099 nsv516278 20 691827 693963 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691987,nssv699836,nssv676870,nssv667292 M 2026 0 4 C20orf54 nsv180492 20 749160 755915 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199070 M 24 "" nsv912581 20 761880 779093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507755 S 6533 0 1 FAM110A SP54725 nsv510778 20 772135 834615 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620161 S 4 0 1 ANGPT4,FAM110A NA15510 nsv458848 20 802681 823368 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535728 S 1557 0 1 ANGPT4 NINDS_64 nsv912582 20 821749 842722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533471 S 6533 0 1 ANGPT4 MS11194 nsv912583 20 821749 874397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553496,nssv1559034,nssv1532747 M 6533 0 3 ANGPT4 MS10821,MS20062,MS23697 esv274947 20 823913 834002 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585677,essv2586147 M 1250 1 1 ANGPT4 nsv817879 20 840948 845614 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417702 S 112 1 0 ANGPT4 NA18999 nsv912584 20 844012 874397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533472 S 6533 0 1 ANGPT4 MS11194 esv27555 20 854004 854838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12619 S 451 0 1 "" NA19190 esv29215 20 860471 863635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18152 S 451 0 1 "" NA12239 esv25083 20 872598 876496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17280 S 451 0 1 "" NA12239 nsv817880 20 874397 876425 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418419,nssv1418418 M 112 0 2 "" NA10847,NA12239 esv2323460 20 878051 878459 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680711 S 1 0 1 "" NA18507 esv274959 20 889665 894803 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586093 S 1250 0 1 RSPO4 nsv520121 20 907339 947784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697233 S 2026 0 1 RSPO4 nsv525407 20 921669 922438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701531 S 2026 0 1 RSPO4 nsv912585 20 940713 1158647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563269 S 6533 1 0 C20orf202,C20orf46,PSMF1,RAD21L1 MS25941 nsv524795 20 943832 947784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700787 S 2026 0 1 "" esv26653 20 946562 948173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18899 S 451 0 1 "" NA19129 nsv3250 20 981233 1014560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7642 S 9 1 0 "" NA12156 nsv180313 20 990602 990680 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198891 M 24 "" nsv179964 20 1043640 1044024 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198542 M 24 PSMF1 nsv179100 20 1043871 1044024 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197678 M 24 PSMF1 esv2524932 20 1078006 1079500 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185359 S 1 0 1 PSMF1 NA18507 esv1136177 20 1078781 1078781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242580 S 2 1 0 PSMF1 HuRef esv270818 20 1095927 1096238 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498526,essv2501530,essv2498819 M 157 3 0 Samples from several populations that are part of the HapMap project. PSMF1 NA18858,NA19093,NA19138 nsv3251 20 1098054 1130516 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6919 S 9 1 0 C20orf46 NA12156 nsv517438 20 1107472 1109063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652018,nssv681802,nssv667252,nssv681646,nssv656010 M 2026 0 5 "" nsv516776 20 1143784 1181893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678990,nssv670757 M 2026 0 2 RAD21L1 dgv4513n71 20 1143784 1196286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912587,nsv912586 M 6533 0 4 RAD21L1,SNPH IS31179,IS33616,IS35229,IS41113 nsv518957 20 1143784 1198463 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696424 S 2026 1 0 RAD21L1,SNPH esv25377 20 1186750 1189117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21397 S 451 0 33 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 dgv4514n71 20 1217588 1248456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912588,nsv912589 M 6533 0 2 FKBP1A-SDCBP2,SDCBP2,SNPH IS33248,MS10311 nsv912590 20 1226770 1246397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572838 S 6533 0 1 FKBP1A-SDCBP2,SDCBP2,SNPH IS33178 esv24525 20 1230345 1231380 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20731 S 451 1 5 SNPH NA07037,NA12004,NA12044,NA12878,NA18916,NA19225 nsv821480 20 1230345 1231380 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420079 S 1 0 1 SNPH NA10851 esv1588736 20 1230873 1230940 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871934 S 2 0 1 SNPH HuRef esv1774028 20 1230961 1231028 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311663 S 2 0 1 SNPH HuRef dgv4515n71 20 1231523 1247968 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912594,nsv912591,nsv912593,nsv912592 M 6533 0 9 FKBP1A-SDCBP2,SDCBP2,SNPH IS32322,IS33504,IS39258,IS40230,IS41634,MS16153,MS16315,MS18276,SP54956 nsv912595 20 1231523 1261762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547047 S 6533 0 1 FKBP1A-SDCBP2,LOC100507495,SDCBP2,SNPH MS17208 nsv518295 20 1241046 1241247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695726 S 2026 0 1 FKBP1A-SDCBP2,SDCBP2 nsv522008 20 1288390 1586578 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694777 S 2026 1 0 FKBP1A,FKBP1A-SDCBP2,LOC100507495,NSFL1C,SIRPB1,SIRPB2,SIRPD,SIRPG nsv179420 20 1331909 1331909 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197998 M 24 "" esv994443 20 1333239 1340933 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564497 S 3 0 1 "" HuRef nsv511624 20 1336576 1339436 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626257 S 1 0 1 "" 1 nsv820225 20 1336884 1341659 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419661 S 2 1 0 "" AK1 dgv690n67 20 1336947 1338798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828662,nsv828663 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 nsv512600 20 1336950 1338832 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625212 S 1 0 1 "" 1 esv4420 20 1337115 1338956 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26861 S 1 0 1 Single Asian sample YH "" YH nsv179088 20 1337144 1338814 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197666 M 24 "" esv5984 20 1337147 1338815 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28425 S 1 0 1 "" SJK esv24719 20 1337176 1338798 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19462 S 451 33 0 "" NA07037,NA07045,NA11894,NA11931,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820679 20 1337176 1338798 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420080 S 1 0 1 "" NA10851 nsv833893 20 1362615 1475779 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454893 S 95 0 1 NSFL1C,SIRPB2,SIRPD nsv3252 20 1375403 1407962 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6921 S 9 1 0 NSFL1C,SIRPB2 NA12156 dgv1301e1 20 1424781 1540258 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv294,essv3034,essv24241,essv14571,essv2101,essv20269,essv10769,essv22207,essv10588,essv15258,essv12531,essv4811,essv12182,essv14289,essv22975,essv7173,essv18665,essv8210,essv13670,essv12857,essv10033,essv11249,essv15058,essv9220,essv1603,essv18375,essv16095,essv8863,essv16956,essv11665,essv6147,essv14595,essv21001,essv9908,essv17560,essv4223,essv20380,essv11514,essv11111,essv21188,essv19395,essv6703,essv20035,essv6769,essv1364,essv17830,essv13457,essv10640,essv15900,essv19264,essv17329,essv19915,essv13016,essv16534,essv23194,essv17205,essv15334,essv2597,essv21865,essv21112,essv15570,essv10428,essv15648,essv22312,essv9659,essv17958,essv10145,essv13636,essv24709,essv16033,essv8146,essv1170,essv2893,essv16912,essv16663,essv6623,essv128 M 271 0 0 SIRPB1,SIRPD NA06985,NA06991,NA07048,NA07357,NA10830,NA10831,NA10838,NA10856,NA11829,NA11830,NA11839,NA11840,NA12003,NA12044,NA12144,NA12156,NA12234,NA12249,NA12762,NA12813,NA12815,NA18501,NA18508,NA18523,NA18532,NA18547,NA18562,NA18603,NA18608,NA18620,NA18621,NA18855,NA18856,NA18859,NA18862,NA18912,NA18913,NA18942,NA18949,NA18951,NA18953,NA18968,NA18978,NA18981,NA18990,NA19007,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19137,NA19142,NA19144,NA19145,NA19154,NA19171,NA19173,NA19192,NA19194,NA19202,NA19204,NA19205,NA19206,NA19210,NA19211,NA19222,NA19223,NA19240 dgv1302e1 20 1424781 1627256 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv149,essv19509 M 271 0 0 SIRPB1,SIRPD,SIRPG NA12864 nsv428374 20 1424781 1627256 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453816,nssv453825,nssv453823,nssv453818,nssv453819,nssv453824,nssv453817,nssv453822,nssv453821 M 62 0 9 SIRPB1,SIRPD,SIRPG HGDP00449,HGDP00463,HGDP00471,HGDP00986,HGDP01094,NA19096,NA19113,NA19147,NA19189 dgv4516n71 20 1434637 1825150 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912596,nsv912597 M 6533 2 0 LOC100289473,SIRPA,SIRPB1,SIRPD,SIRPG IS35545,MS16343 nsv510779 20 1457330 1561962 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619005,nssv622795,nssv620162,nssv617441 M 4 0 4 SIRPB1,SIRPD,SIRPG CHM,NA10860,NA15510,NA18994 nsv833894 20 1467433 1701366 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454895,nssv1454894 M 95 2 0 SIRPB1,SIRPD,SIRPG nsv9775 20 1482985 1511660 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26414,nssv27652,nssv24969,nssv25887,nssv24702,nssv24514 M 31 0 6 Samples from several populations that are part of the HapMap project. SIRPB1,SIRPD NA07048,NA10863,NA18517,NA18537,NA18552,NA19144 esv2424715 20 1493641 1494539 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230418 S 1 1 0 SIRPB1 NA18507 esv33848 20 1493701 1499063 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99391 S 51 0 1 SIRPB1 22335 esv270432 20 1494196 1494523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526053,essv2542436,essv2536502,essv2545289,essv2570701,essv2548278,essv2550561,essv2525519,essv2535315,essv2554212,essv2552247,essv2520566,essv2529221,essv2558646,essv2577780,essv2559480,essv2565432,essv2576180,essv2555116,essv2530733,essv2561780,essv2540151,essv2557060,essv2552415,essv2551667,essv2532362,essv2562656,essv2569565,essv2578551,essv2536985,essv2539206,essv2561674,essv2544890,essv2523616,essv2552780,essv2541124,essv2538279,essv2542888,essv2540493,essv2524556,essv2565096,essv2534809,essv2561176,essv2549571,essv2519770,essv2560038,essv2521982,essv2566230,essv2530915,essv2532693,essv2567868,essv2528999,essv2567377,essv2541522,essv2570251,essv2563642,essv2553284,essv2535644,essv2572267,essv2559047,essv2541982,essv2568949,essv2543445,essv2556150,essv2528090,essv2562477,essv2539305,essv2533920,essv2578366,essv2573177,essv2533441,essv2567022,essv2566514,essv2530015,essv2527608,essv2522344,essv2531561,essv2543278,essv2576921,essv2525585,essv2529516,essv2575485,essv2575127,essv2538700,essv2526452,essv2524024,essv2560848,essv2574712,essv2530284,essv2572653,essv2568650,essv2545039,essv2560255,essv2548130,essv2549729,essv2571517,essv2545733,essv2574090,essv2536317,essv2548914,essv2524818,essv2558033 M 157 102 0 Samples from several populations that are part of the HapMap project. SIRPB1 NA06986,NA07037,NA07357,NA10851,NA11918,NA11919,NA11920,NA12003,NA12044,NA12045,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12749,NA12750,NA12761,NA12776,NA12812,NA12814,NA12872,NA12873,NA12874,NA18489,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18947,NA18948,NA18949,NA18952,NA18960,NA18961,NA18965,NA18970,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240 esv272311 20 1494197 1494522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584073,essv2584787,essv2583368 M 7 3 0 Samples from several populations that are part of the HapMap project. SIRPB1 NA19238,NA19239,NA19240 nsv437183 20 1494450 1517563 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467064 S 60 0 1 Samples from several populations that are part of the HapMap project. SIRPB1 NA10863 nsv3253 20 1495092 1551832 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6922,nssv2323,nssv11034,nssv1583,nssv9593,nssv10279,nssv5861,nssv9362,nssv4516 M 9 0 9 SIRPB1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv184 20 1499392 1547647 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv184 S 1 0 1 SIRPB1 NA15510 nsv821006 20 1499643 1549157 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420082 S 1 0 1 SIRPB1 NA10851 nsv828665 20 1499643 1549157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431748,nssv1431420,nssv1437146,nssv1433360 M 31 0 4 SIRPB1 AK18,NA18542,NA18947,NA18972 esv25111 20 1500338 1544222 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11812,esv14937 M 451 2 29 SIRPB1 NA06985,NA07037,NA11931,NA11993,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv33n47 20 1503755 1542261 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498962,nsv498960,nsv498959,nsv498961,nsv498963 M 9 0 5 SIRPB1 esv2421429 20 1505190 1541893 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5099806,essv5138594,essv5004260,essv5054351,essv5046271,essv5110579,essv5061015,essv5044937,essv5058785,essv5122346,essv5134168,essv5059509,essv5054783,essv5103802,essv5083641,essv5104108,essv5099939,essv5014800,essv5002318,essv5156350,essv5089296,essv5063884,essv5067039,essv5069544,essv5145003,essv5125093,essv5031872,essv5033435,essv5036819,essv5018512,essv5052022,essv5034569,essv5105269,essv5093934,essv5050901,essv5051604,essv5156225,essv5151366,essv5061892,essv5058718,essv5150535,essv5045287,essv5055495,essv5003644,essv5145237,essv5091581,essv5002153,essv5149850,essv5110812,essv5096842,essv5082998,essv5075823,essv5118254,essv5038504,essv5106251,essv5102011,essv5067632,essv5027220,essv5108171,essv5085667,essv5152833,essv5122563,essv5048272,essv5074429,essv5027082,essv5014012,essv5069195,essv5066339,essv5134551,essv5101321,essv5003507,essv5120237,essv5060843,essv5087354,essv5099120,essv5146825,essv5056541,essv5094885,essv5126616,essv5148324,essv5080116,essv5068919,essv5124639,essv5094151,essv5015328,essv5003276,essv5071885,essv5086326,essv5084377,essv5157073,essv5002486,essv5021664,essv5117882,essv5159383,essv5036617,essv5140351,essv5156335,essv5080969,essv5149863,essv5088514,essv5014361,essv5009530,essv5019038,essv5132061,essv5088058,essv5050712,essv5153875,essv5032200,essv5082316,essv5141678,essv5156997,essv5082568,essv5014958,essv5018493,essv5017918,essv5140185,essv5079355,essv5054827,essv5109478,essv5003241,essv5050189,essv5155611,essv5156626,essv5139706,essv5141890,essv5139123,essv5073279,essv5136537,essv5011255,essv5108739,essv5030600,essv5055148,essv5024881,essv5097949,essv5139771,essv5046111,essv5142345,essv5052513,essv5111186,essv5067446,essv5135512,essv5108119,essv5128221,essv5039379,essv5083275,essv5124637,essv5056412,essv5090476,essv5102976,essv5147261,essv5149322,essv5055073,essv5075174,essv5105578,essv5057649,essv5117250,essv5116115,essv5006773,essv5106341,essv5139801,essv5043245,essv5082017,essv5093359,essv5038164,essv5017820,essv5139176,essv5079073,essv5043822,essv5160276,essv5060979,essv5139531,essv5094484,essv5140106,essv5072874,essv5059483,essv5140588,essv5039714,essv5044920,essv5023406,essv5080100,essv5036815,essv5022100,essv5132042,essv5071541,essv5084813,essv5046354,essv5060298,essv5126967,essv5027131,essv5014281,essv5012738,essv5138836,essv5063688,essv5036134,essv5041893,essv5014593,essv5019042,essv5097126,essv5046657,essv5119275,essv5012160,essv5056954,essv5072047,essv5012121,essv5077931,essv5145346,essv5072896,essv5002300,essv5095674,essv5150645,essv5022394,essv5038418,essv5043775,essv5065247,essv5060783,essv5076218,essv5136782,essv5119681,essv5014947,essv5124265,essv5073547,essv5081900,essv5106657,essv5041141,essv5096701,essv5093489,essv5069608,essv5121883,essv5114081,essv5065351,essv5128399,essv5104285,essv5137690,essv5092616,essv5059217,essv5033889,essv5104216,essv5153323,essv5039569,essv5127515,essv5143756,essv5130812,essv5073156,essv5002372,essv5147955,essv5005389,essv5032710,essv5116664,essv5039583,essv5015927,essv5004063,essv5106146,essv5089750,essv5103425,essv5118669,essv5108495,essv5132213,essv5064227,essv5016233,essv5029416,essv5032772,essv5093309,essv5024469,essv5077165,essv5057753,essv5095717,essv5063786,essv5120646,essv5091880,essv5020634,essv5091327,essv5107426,essv5097783,essv5151055,essv5023080,essv5103990,essv5043626,essv5158878,essv5108254,essv5093381,essv5157796,essv5057508,essv5048610,essv5105807,essv5144449,essv5061051,essv5130458,essv5043025,essv5086749,essv5136568,essv5123599,essv5093357,essv5126643,essv5156842,essv5138376,essv5153015,essv5098924,essv5075021,essv5105177,essv5117795,essv5110589,essv5018703,essv5129086,essv5076123,essv5019293,essv5030141,essv5143715,essv5104961,essv5064634,essv5054915,essv5034433,essv5091415,essv5150472,essv5122918,essv5061559,essv5033046,essv5065381,essv5130518,essv5041185,essv5078834,essv5025114,essv5004667,essv5040935,essv5065966,essv5062410,essv5075821,essv5079726,essv5043054,essv5116239,essv5069135,essv5147180,essv5014750,essv5090468,essv5084762,essv5128862,essv5060665,essv5121791,essv5031194 M 1184 338 0 SIRPB1 NA06986,NA06993,NA06994,NA06997,NA07000,NA07029,NA07045,NA07051,NA07345,NA07346,NA07347,NA07348,NA10830,NA10836,NA10839,NA10840,NA10847,NA10854,NA10855,NA10859,NA10861,NA10865,NA11831,NA11839,NA11882,NA11892,NA11894,NA11918,NA11992,NA11994,NA11995,NA12005,NA12006,NA12043,NA12056,NA12057,NA12145,NA12146,NA12154,NA12239,NA12248,NA12273,NA12282,NA12286,NA12342,NA12348,NA12375,NA12376,NA12383,NA12546,NA12707,NA12716,NA12740,NA12748,NA12750,NA12752,NA12761,NA12763,NA12776,NA12801,NA12802,NA12812,NA12814,NA12817,NA12818,NA12828,NA12829,NA12864,NA12865,NA12872,NA12875,NA12877,NA12878,NA12889,NA12891,NA17965,NA17966,NA17970,NA17972,NA17974,NA17987,NA17988,NA17989,NA17990,NA17996,NA17997,NA18108,NA18114,NA18118,NA18120,NA18122,NA18125,NA18127,NA18129,NA18132,NA18135,NA18136,NA18139,NA18144,NA18148,NA18151,NA18152,NA18156,NA18158,NA18159,NA18160,NA18498,NA18503,NA18504,NA18505,NA18524,NA18529,NA18536,NA18542,NA18543,NA18544,NA18545,NA18550,NA18557,NA18558,NA18559,NA18563,NA18602,NA18605,NA18609,NA18612,NA18615,NA18617,NA18623,NA18624,NA18627,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18640,NA18641,NA18647,NA18740,NA18745,NA18749,NA18757,NA18853,NA18854,NA18861,NA18863,NA18873,NA18875,NA18916,NA18930,NA18939,NA18940,NA18943,NA18945,NA18946,NA18947,NA18948,NA18952,NA18956,NA18957,NA18959,NA18962,NA18964,NA18966,NA18967,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18993,NA18998,NA19000,NA19001,NA19002,NA19010,NA19056,NA19057,NA19059,NA19060,NA19064,NA19065,NA19066,NA19068,NA19072,NA19075,NA19076,NA19083,NA19085,NA19087,NA19088,NA19108,NA19109,NA19121,NA19123,NA19131,NA19132,NA19138,NA19139,NA19159,NA19161,NA19239,NA19350,NA19373,NA19374,NA19380,NA19381,NA19382,NA19383,NA19391,NA19436,NA19437,NA19457,NA19467,NA19652,NA19653,NA19654,NA19656,NA19660,NA19661,NA19662,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19681,NA19683,NA19684,NA19686,NA19708,NA19711,NA19716,NA19720,NA19721,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19759,NA19760,NA19762,NA19763,NA19774,NA19775,NA19776,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19795,NA19909,NA19915,NA19917,NA19918,NA20279,NA20282,NA20300,NA20301,NA20302,NA20342,NA20343,NA20506,NA20508,NA20510,NA20512,NA20516,NA20519,NA20520,NA20529,NA20540,NA20542,NA20544,NA20581,NA20582,NA20756,NA20769,NA20773,NA20783,NA20787,NA20796,NA20797,NA20804,NA20806,NA20809,NA20810,NA20816,NA20818,NA20828,NA20846,NA20851,NA20854,NA20869,NA20871,NA20875,NA20876,NA20877,NA20885,NA20889,NA20890,NA20895,NA20896,NA20899,NA20901,NA20910,NA21090,NA21091,NA21094,NA21098,NA21103,NA21109,NA21113,NA21123,NA21125,NA21295,NA21353,NA21363,NA21417,NA21473,NA21520,NA21613,NA21717,NA21718,NA21739 nsv442775 20 1505219 1508562 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SIRPB1 esv33285 20 1507964 1532455 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101533,essv98807,essv93791,essv96785,essv101007,essv98205,essv94694,essv93972,essv101368,essv94450,essv97896,essv95653,essv97402,essv101675,essv95802,essv94643,essv92955,essv92720,essv93720,essv96172,essv97105,essv98626,essv95986,essv93247,essv94958,essv92666,essv98054,essv97657,essv100347,essv99550,essv96310 M 51 1 30 SIRPB1 21603,21606,21634,21659,21693,21772,21791,21802,21805,21808,21837,21841,21879,21909,21911,21932,21939,21944,21972,22007,22075,22085,22127,22170,22231,22233,22259,22278,22300,22335,22371 nsv512601 20 1507975 1544077 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625213 S 1 0 1 SIRPB1 1 esv2556331 20 1508150 1542595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335771 S 1 0 1 SIRPB1 NA18507 esv995112 20 1508244 1542529 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565751 S 3 0 1 SIRPB1 HuRef nsv436327 20 1508872 1542911 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465701 S 2 0 1 Samples from several populations that are part of the HapMap project. SIRPB1 NA18505 esv991867 20 1508951 1541893 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586018 S 3 1 0 SIRPB1 HuRef esv7521 20 1508990 1542233 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29962 S 1 0 1 SIRPB1 SJK nsv442776 20 1509580 1541893 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SIRPB1 esv2574735 20 1510325 1541051 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293388 S 1 0 1 SIRPB1 NA18507 nsv9776 20 1510534 1532773 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25908,nssv27098,nssv26429,nssv24080,nssv27660,nssv26834,nssv24994,nssv24728,nssv25564,nssv25555,nssv22579,nssv24745,nssv28605,nssv27887,nssv24540,nssv25200,nssv24247,nssv26069,nssv25426,nssv21875,nssv27666 M 31 4 17 Samples from several populations that are part of the HapMap project. SIRPB1 NA07029,NA07048,NA10847,NA10863,NA11830,NA12155,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18860,NA18942,NA18975,NA19007,NA19144,NA19173,NA19221,NA19240 dgv691n67 20 1511432 1539607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828667,nsv828666,nsv828668 M 31 0 25 SIRPB1 AK10,AK12,AK14,AK16,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv514932 20 1511631 1531931 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628340 S 1414 0 1 SIRPB1 nsv438306 20 1517704 1520374 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470757,nssv470754,nssv470755,nssv470758,nssv470756,nssv470751,nssv470750,nssv470753 M 269 0 8 Samples from several populations that are part of the HapMap project. SIRPB1 NA18862,NA18863,NA19130,NA19132,NA19160,NA19161,NA19239,NA19240 dgv692n67 20 1526512 1527969 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828670,nsv828669 M 31 0 2 SIRPB1 AK12,AK4 nsv9777 20 1532773 1544533 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26088,nssv25929,nssv24626,nssv26444,nssv25019,nssv24107,nssv24754,nssv27668,nssv25481,nssv27108,nssv25587,nssv25578,nssv26905,nssv28606 M 31 0 14 Samples from several populations that are part of the HapMap project. SIRPB1 NA07048,NA10863,NA11830,NA12155,NA18517,NA18537,NA18552,NA18564,NA18942,NA19007,NA19144,NA19173,NA19221,NA19240 esv33908 20 1539178 1546789 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93862,essv98264,essv97339,essv95830,essv92676,essv96121,essv98633,essv97627 M 51 0 8 SIRPB1 21634,21772,21879,21911,21944,22007,22085,22278 nsv9778 20 1549383 1554274 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24770 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18975 nsv3255 20 1594524 1628522 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6923 S 9 0 1 "" NA12156 nsv9779 20 1618232 1622721 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27499 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv3256 20 1632768 1665764 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2324 S 9 1 0 "" NA18555 nsv510481 20 1675614 1681614 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621495,nssv618452 M 4 0 2 "" CHM,NA15510 esv2172730 20 1694440 1694788 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769355 S 1 0 1 "" NA18507 nsv179012 20 1726688 1726688 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197590 M 24 "" esv3578 20 1768232 1768817 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26019 S 1 0 1 Single Asian sample YH "" YH nsv3257 20 1785670 1831914 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6924,nssv3056,nssv4517,nssv1584 M 9 4 0 SIRPA NA12156,NA12878,NA18555,NA19240 nsv179937 20 1803507 1804365 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198515 M 24 "" esv1088033 20 1805882 1805882 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212639 S 2 1 0 "" HuRef nsv511629 20 1842335 1843740 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626262 S 1 0 1 SIRPA 1 esv25632 20 1842900 1844411 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12540,esv10169 M 451 1 5 SIRPA NA07045,NA11995,NA12004,NA12239,NA12489,NA12878 esv1005896 20 1843116 1844411 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586675 S 3 1 0 SIRPA HuRef nsv470535 20 1877542 2709240 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547344 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EBF4,IDH3B,MIR1292,NOP56,PDYN,SNORA51,SNORD110,SNORD119,SNORD56,SNORD57,SNORD86,SNRPB,STK35,TGM3,TGM6,TMC2,ZNF343 HGDP00465 nsv178809 20 1923953 1924020 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197387 M 24 "" esv994294 20 1923992 1924059 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580326 S 3 0 1 "" HuRef esv1015301 20 1924011 1924079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652714 S 2 0 1 "" HuRef esv272184 20 1938339 1938665 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581737,essv2583019 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv271620 20 1938340 1938689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508811,essv2502802,essv2504282,essv2498365,essv2508771,essv2500365,essv2503267,essv2497289,essv2500047,essv2508305,essv2499877,essv2512676,essv2508098,essv2496134,essv2499268,essv2512920,essv2495674,essv2511643,essv2503120,essv2503489,essv2502468,essv2512339,essv2505485,essv2497410,essv2503756,essv2495187,essv2502695,essv2509457,essv2497000 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA18505,NA18526,NA18532,NA18537,NA18542,NA18545,NA18558,NA18561,NA18562,NA18577,NA18579,NA18603,NA18605,NA18609,NA18916,NA18940,NA18943,NA18947,NA18948,NA18949,NA18952,NA18959,NA18960,NA18964,NA18965,NA19129,NA19190 nsv515976 20 1940396 1949015 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665563,nssv669247 M 2026 2 0 "" nsv179900 20 1965280 1965342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198478 M 24 "" dgv4517n71 20 1998481 2094580 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912600,nsv912599,nsv912598 M 6533 0 3 STK35 IS34264,IS34400,MS20440 nsv3258 20 2019935 2052744 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6925 S 9 1 0 STK35 NA12156 esv2600875 20 2020197 2021565 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343918 S 1 0 1 "" NA18507 dgv1303e1 20 2078560 2423469 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7068,esv841 M 271 0 0 SNORD119,SNRPB,TGM3,TGM6,ZNF343 NA18537 esv32916 20 2090553 2094254 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95643 S 51 1 0 "" 21841 nsv3259 20 2104298 2135401 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10280 S 9 1 0 "" NA18956 esv25453 20 2146385 2149331 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15183 S 451 0 1 "" NA19129 nsv509758 20 2151466 2199261 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619839 S 4 1 0 "" NA10860 essv4928 20 2152811 2307429 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. TGM3 NA18537 nsv458850 20 2152811 2319782 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535729 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TGM3,TGM6 HGDP01197 nsv9781 20 2153045 2313970 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27674,nssv25980,nssv25577 M 31 1 2 Samples from several populations that are part of the HapMap project. TGM3,TGM6 NA18502,NA18537,NA18980 nsv828671 20 2154184 2312568 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440061 S 31 1 0 TGM3,TGM6 NA18537 nsv817881 20 2158530 2290673 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417126 S 112 1 0 TGM3 NA18537 esv1119591 20 2165041 2165041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009433 S 2 1 0 "" HuRef nsv178693 20 2169756 2169838 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197271 M 24 "" esv1643105 20 2169938 2169938 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355675 S 2 1 0 "" HuRef esv34630 20 2173481 2312390 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979373,essv6979372,essv6979371,essv6986845,essv6986844 M 771 1 0 TGM3,TGM6 NA18537 nsv179633 20 2307904 2308608 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198211 M 24 "" esv274567 20 2308565 2308729 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580697,essv2579611 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267922 20 2319680 2320020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496700,essv2513204,essv2507755,essv2493437,essv2502835,essv2509743,essv2493650,essv2494792,essv2509021,essv2506184,essv2500022,essv2507669,essv2498413,essv2509151,essv2511646,essv2502352,essv2498939,essv2497714,essv2496885,essv2501746,essv2498192,essv2513115 M 157 22 0 Samples from several populations that are part of the HapMap project. TGM6 NA10847,NA11894,NA12249,NA12751,NA12763,NA12892,NA18508,NA18517,NA18519,NA18522,NA18523,NA18558,NA18576,NA18858,NA18909,NA18940,NA18948,NA19138,NA19147,NA19190,NA19239,NA19240 esv274004 20 2319714 2320011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583108,essv2584515,essv2583696 M 7 3 0 Samples from several populations that are part of the HapMap project. TGM6 NA12892,NA19239,NA19240 nsv528245 20 2369742 2377222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704808 S 2026 0 1 "" esv2601117 20 2371419 2372812 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282176 S 1 0 1 "" NA18507 esv1958653 20 2371591 2372063 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975834 S 1 0 1 "" NA18507 nsv912601 20 2372540 2436753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554113 S 6533 0 1 SNORD119,SNRPB,ZNF343 MS20616 nsv178690 20 2376630 2384455 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197268 M 24 "" nsv179665 20 2403916 2403916 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198243 M 24 "" nsv3260 20 2417531 2446060 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5862 S 9 1 0 ZNF343 NA19129 esv1004398 20 2447142 2448057 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587104 S 3 0 1 "" HuRef esv2066914 20 2462803 2463272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842340 S 1 0 1 "" NA18507 nsv180065 20 2462992 2463105 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198643 M 24 "" esv28094 20 2562141 2564678 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11419 S 451 1 0 TMC2 NA18916 esv32983 20 2565645 2565722 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93608 S 51 1 0 TMC2 21972 esv33713 20 2575002 2575208 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97176 S 51 0 1 "" 22075 esv33525 20 2575662 2576248 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101335,essv95565,essv97399,essv96258,essv94301 M 51 5 0 "" 21805,21841,21879,22371,22394 esv33726 20 2578819 2579193 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100669 S 51 1 0 "" 21656 nsv458852 20 2586579 2632924 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535731 S 1557 0 1 EBF4,IDH3B,NOP56 1780862574_A esv988063 20 2587703 2587703 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570463 S 3 1 0 IDH3B HuRef esv1188410 20 2587755 2587755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661843 S 2 1 0 IDH3B HuRef nsv519426 20 2615729 2630206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673188,nssv656147 M 2026 0 2 EBF4 esv28668 20 2621175 2622407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11745 S 451 0 1 EBF4 NA12489 nsv833895 20 2658810 2810882 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454896 S 95 0 1 C20orf141,CPXM1,EBF4,FAM113A,PTPRA,TMEM239,VPS16 nsv522009 20 2673678 2959188 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694778 S 2026 1 0 C20orf141,CPXM1,EBF4,FAM113A,PTPRA,TMEM239,VPS16 nsv510780 20 2674695 2760799 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622796 S 4 0 1 C20orf141,CPXM1,EBF4,TMEM239 NA18994 nsv912602 20 2676985 2720495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573989 S 6533 0 1 EBF4 IS33504 nsv518364 20 2735994 2749409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695791 S 2026 0 1 C20orf141,TMEM239 nsv3261 20 2749309 2780400 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4658 S 9 0 1 FAM113A,VPS16 NA19129 esv2654562 20 2750579 2755234 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281169 S 1 0 1 "" NA18507 esv1917765 20 2750969 2754602 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4871137 S 1 0 1 "" NA18507 esv5252 20 2751130 2754471 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27693 S 1 0 1 Single Asian sample YH "" YH nsv498964 20 2751147 2754425 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585825 S 9 0 1 "" dgv79n6 20 2751148 2754424 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179644,nsv178768 M 24 "" esv6850 20 2751161 2754407 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29291 S 1 0 1 "" SJK esv1548519 20 2771496 2771496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833300 S 2 1 0 VPS16 HuRef nsv518708 20 2794289 2794427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696159 S 2026 0 1 PTPRA,VPS16 esv2207372 20 2796000 2796381 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512897 S 1 0 1 PTPRA NA18507 nsv3262 20 2801206 2821735 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3057 S 9 1 0 PTPRA NA18555 nsv519680 20 2811479 2813976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696989 S 2026 0 1 PTPRA esv2272134 20 2811834 2812537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691924 S 1 0 1 PTPRA NA18507 nsv179703 20 2812002 2812323 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198281 M 24 PTPRA esv5581 20 2812017 2812322 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28022 S 1 0 1 PTPRA SJK nsv912603 20 2822429 3029101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511770 S 6533 1 0 AVP,GNRH2,MRPS26,OXT,PTPRA SP55056 esv2369681 20 2848118 2848553 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497286 S 1 0 1 PTPRA NA18507 nsv833896 20 2852497 2991038 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454898,nssv1454897 M 95 0 2 GNRH2,MRPS26,PTPRA nsv3263 20 2891493 2897995 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6926 S 9 1 0 PTPRA NA12156 nsv180455 20 2898209 2898320 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199033 M 24 PTPRA nsv833897 20 2918970 3103792 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454899 S 95 0 1 AVP,FASTKD5,GNRH2,LOC100134015,MRPS26,OXT,ProSAPiP1,PTPRA,UBOX5 nsv180708 20 2958205 2959322 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199286 M 24 PTPRA esv994080 20 2961450 2962175 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586331 S 3 1 0 PTPRA HuRef nsv482064 20 2972268 2974391 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558425 S 1 1 0 GNRH2 KB1 esv33482 20 2975728 2982586 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100469 S 51 0 1 MRPS26 22298 esv2095859 20 2985733 2986379 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555738 S 1 0 1 "" NA18507 nsv516616 20 2997890 2998393 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669599,nssv681086,nssv674201,nssv683238 M 2026 0 4 "" nsv523746 20 2997890 3001255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699563 S 2026 0 1 OXT esv2571484 20 3032548 3033940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367779 S 1 0 1 "" NA18507 esv2089964 20 3032807 3033726 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909610 S 1 0 1 "" NA18507 nsv521437 20 3036010 3039270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698047 S 2026 0 1 LOC100134015,UBOX5 nsv526273 20 3038124 3039270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702548 S 2026 0 1 LOC100134015,UBOX5 nsv180149 20 3056283 3065149 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198727 M 24 LOC100134015,UBOX5 nsv524482 20 3067555 3086979 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700420 S 2026 1 0 FASTKD5,LOC100134015,UBOX5 nsv833898 20 3076069 3238538 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454901,nssv1454900,nssv1454902 M 95 1 2 C20orf194,DDRGK1,FASTKD5,ITPA,LOC100134015,ProSAPiP1,SLC4A11,UBOX5 nsv912604 20 3078175 3171225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586096 S 6533 0 1 DDRGK1,FASTKD5,ITPA,LOC100134015,ProSAPiP1,SLC4A11,UBOX5 IS37646 nsv912605 20 3084626 3097729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511615 S 6533 0 1 FASTKD5,ProSAPiP1,UBOX5 SP55021 nsv912606 20 3084626 3112110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510396 S 6533 0 1 FASTKD5,ProSAPiP1,UBOX5 SP54956 dgv4518n71 20 3086280 3106725 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912608,nsv912607 M 6533 0 2 FASTKD5,ProSAPiP1,UBOX5 SP54725,SP54988 nsv528355 20 3119337 3171225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704940 S 2026 0 1 DDRGK1,ITPA,SLC4A11 dgv4519n71 20 3128283 3171225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912610,nsv912609 M 6533 0 5 DDRGK1,ITPA,SLC4A11 IS33684,IS39233,MS16315,MS17208,MS18276 dgv4520n71 20 3128283 3184015 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912611,nsv912612 M 6533 0 4 C20orf194,DDRGK1,ITPA,SLC4A11 IS32322,IS32841,IS33504,IS40230 nsv179045 20 3186624 3186760 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197623 M 24 C20orf194 esv269444 20 3190383 3190718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514680,essv2515665,essv2517957,essv2516115,essv2513778 M 157 5 0 Samples from several populations that are part of the HapMap project. C20orf194 NA11840,NA12815,NA12872,NA12873,NA19143 esv24766 20 3307280 3307959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20346 S 451 0 1 C20orf194 NA07037 nsv3264 20 3402206 3434895 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5864 S 9 1 0 ATRN NA19129 nsv525626 20 3403759 3463924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701775 S 2026 0 1 ATRN nsv828672 20 3486316 3486825 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422300 S 31 0 1 ATRN NA18997 nsv520565 20 3581240 3668701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698844,nssv672596,nssv688470 M 2026 0 3 ADAM33,GFRA4,HSPA12B,SIGLEC1 dgv4521n71 20 3587019 3640839 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912613,nsv912614 M 6533 0 2 ADAM33,GFRA4,SIGLEC1 IS37646,MS18276 nsv912615 20 3587019 3697886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592471 S 6533 0 1 ADAM33,C20orf27,GFRA4,HSPA12B,SIGLEC1 IS39233 nsv912616 20 3610142 3640839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555907,nssv1578962 M 6533 0 2 ADAM33,SIGLEC1 IS34996,MS21706 nsv470536 20 3621815 3676026 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547346 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSPA12B,SIGLEC1 HGDP00697 nsv833899 20 3637942 3806997 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454904,nssv1454903 M 95 0 2 C20orf27,C20orf29,CDC25B,CENPB,HSPA12B,MAVS,SPEF1 nsv912617 20 3664457 3732593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530999 S 6533 0 1 C20orf27,CDC25B,CENPB,HSPA12B,SPEF1 MS10311 nsv828673 20 3667029 4113458 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430918,nssv1422407,nssv1437147,nssv1439395 M 31 4 0 C20orf27,C20orf29,CDC25B,CENPB,HSPA12B,MAVS,MIR103A2,MIR103B2,PANK2,RNF24,SMOX,SPEF1 NA18542,NA18968,NA18969,NA18973 nsv179720 20 3667753 3667935 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198298 M 24 HSPA12B nsv912618 20 3698597 3724968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511616 S 6533 0 1 CDC25B,CENPB,SPEF1 SP55021 dgv4522n71 20 3704597 3724558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912619,nsv912620 M 6533 0 3 CDC25B,CENPB,SPEF1 SP54225,SP54725,SP81010 nsv912621 20 3710095 3724968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506125 S 6533 0 1 CDC25B,CENPB,SPEF1 SP54043 nsv912622 20 3742183 3798968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543816 S 6533 0 1 C20orf29,MAVS MS16153 esv2562553 20 3742332 3744054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259395 S 1 0 1 "" NA18507 esv2000297 20 3742911 3743615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560010 S 1 0 1 "" NA18507 esv2429103 20 3768126 3773330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184781 S 1 0 1 "" NA18507 esv2416568 20 3768994 3773194 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923314 S 1 0 1 "" NA18507 esv29914 20 3769364 3773088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19319 S 451 0 6 "" NA18523,NA18858,NA18909,NA19108,NA19129,NA19225 nsv514937 20 3770931 3772521 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628341 S 1414 0 1 "" nsv828674 20 3771041 3772282 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429513 S 31 0 1 "" AK12 nsv522507 20 3775309 3778474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705875 S 2026 0 1 MAVS nsv520430 20 3786807 3798968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697415 S 2026 0 1 MAVS nsv527710 20 3791027 3798968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704190 S 2026 0 1 MAVS nsv521026 20 3794397 3798968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680088,nssv687938 M 2026 0 2 MAVS nsv828676 20 3827121 3831621 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440063 S 31 0 1 PANK2 NA18537 nsv527924 20 3920756 3935738 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704431 S 2026 1 0 RNF24 nsv912623 20 3942609 4033758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533250 S 6533 1 0 RNF24 MS11061 nsv833900 20 3953698 4129964 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454905 S 95 0 1 LOC728228,SMOX esv2548495 20 3959963 3965255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353725 S 1 0 1 "" NA18507 esv2125011 20 3960317 3964686 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885960 S 1 0 1 "" NA18507 esv27811 20 3960496 3964421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14799 S 451 0 1 "" NA19190 nsv912624 20 3966579 4011862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591207 S 6533 1 0 "" IS38651 nsv912625 20 3977035 4030989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508307 S 6533 0 1 "" SP54704 nsv442479 20 3985528 3988740 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv272129 20 3994401 3994695 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501646,essv2493327,essv2513344,essv2498710 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA18504,NA18907,NA19138 nsv526327 20 3995486 3997691 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702617 S 2026 1 0 "" nsv509759 20 4007838 4030905 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618134 S 4 1 0 "" CHM nsv519586 20 4023934 4027223 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656978,nssv663245,nssv695880 M 2026 0 3 "" nsv522440 20 4023934 4027991 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705798 S 2026 1 0 "" esv999109 20 4029366 4032185 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564362 S 3 1 0 "" HuRef esv2632874 20 4113504 4115172 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330855 S 1 0 1 SMOX NA18507 esv1176085 20 4114339 4114623 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044660 S 2 0 1 SMOX HuRef nsv178938 20 4153254 4153361 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197516 M 24 ADRA1D nsv180352 20 4156331 4156382 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198930 M 24 ADRA1D nsv833901 20 4171812 4409583 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454906 S 95 1 0 ADRA1D nsv517768 20 4219364 4220499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653162,nssv677265,nssv691676,nssv660514 M 2026 0 4 "" nsv3266 20 4237140 4270786 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4518 S 9 1 0 "" NA12878 nsv912626 20 4260609 4300104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584258,nssv1597532 M 6533 0 2 "" IS36936,IS41172 nsv509760 20 4324172 4377505 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623821,nssv619840 M 4 2 0 "" NA10860,NA18994 nsv3267 20 4355305 4388279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4521,nssv1585,nssv10281,nssv2325,nssv7644 M 9 5 0 "" NA12156,NA12878,NA18555,NA18956,NA19240 esv997913 20 4374809 4375312 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565600 S 3 1 0 "" HuRef nsv436314 20 4393121 4397992 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465702 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22285 20 4393359 4397529 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18338 S 451 0 2 "" NA18505,NA18916 esv2421499 20 4394568 4397666 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029433,essv5073030,essv5060568,essv5042279,essv5144063,essv5098400,essv5023141,essv5101359,essv5143628,essv5027540,essv5121280,essv5028498,essv5159786,essv5150357,essv5063108,essv5046690,essv5143097,essv5069446,essv5072511,essv5102785,essv5083820,essv5158128,essv5056103,essv5128194,essv5127974,essv5027080,essv5070638,essv5019159,essv5046591,essv5144467,essv5103382,essv5075588,essv5088744,essv5095913,essv5055778,essv5019436,essv5108674 M 1184 0 37 "" NA18505,NA18509,NA18852,NA18854,NA18916,NA18930,NA19041,NA19044,NA19093,NA19094,NA19116,NA19120,NA19146,NA19149,NA19200,NA19202,NA19210,NA19221,NA19223,NA19328,NA19332,NA19334,NA19347,NA19352,NA19431,NA19438,NA19445,NA19713,NA19746,NA19983,NA19985,NA20340,NA21363,NA21440,NA21608,NA21614,NA21686 nsv442777 20 4394568 4398987 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514941 20 4394841 4397416 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628342 S 1414 0 1 "" esv1431138 20 4411280 4411280 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314138 S 2 1 0 "" HuRef nsv3268 20 4558318 4566067 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7645 S 9 0 1 "" NA12156 nsv912627 20 4593073 4657986 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577066 S 6533 1 0 PRND,PRNP IS34352 nsv179053 20 4656450 4658959 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197631 M 24 PRND nsv512602 20 4666356 4668620 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625214 S 1 0 1 PRNT 1 nsv912628 20 4699487 4784440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554708 S 6533 1 0 RASSF2,SLC23A2 MS20919 nsv912629 20 4699487 5131353 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551411 S 6533 1 0 C20orf30,CDS2,PCNA,PCNA-AS1,RASSF2,SLC23A2 MS18853 esv274965 20 4724521 4728420 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585650 S 1250 0 1 RASSF2 esv29645 20 4724959 4725638 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20692 S 451 0 1 RASSF2 NA19225 esv1413742 20 4739895 4739895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675496 S 2 1 0 RASSF2 HuRef nsv526507 20 4741678 4743703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702817 S 2026 0 1 RASSF2 nsv912630 20 4753281 4802682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534772 S 6533 0 1 SLC23A2 MS11726 nsv820483 20 4755496 4756166 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420083 S 1 0 1 "" NA10851 nsv828677 20 4755496 4756166 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437868,nssv1425436,nssv1430929,nssv1430264,nssv1435575,nssv1436267,nssv1428757,nssv1423881,nssv1423410,nssv1434109,nssv1423051,nssv1437148 M 31 9 3 "" AK10,AK14,AK2,NA18526,NA18542,NA18547,NA18552,NA18566,NA18942,NA18949,NA18968,NA18999 esv267952 20 4759348 4759696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506007,essv2506481,essv2502050 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19108,NA19257 esv2616884 20 4772960 4773723 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223017 S 1 1 0 "" NA18507 nsv522948 20 4785063 4788270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698615 S 2026 0 1 SLC23A2 nsv912631 20 4826673 5001808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554709 S 6533 1 0 SLC23A2 MS20919 nsv833902 20 4859003 5044432 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454907 S 95 0 1 C20orf30,PCNA,SLC23A2 nsv179361 20 4886550 4894612 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197939 M 24 SLC23A2 nsv520095 20 4896248 4918721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660675,nssv684678 M 2026 0 2 SLC23A2 nsv428375 20 4915957 5072725 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453826 S 62 0 1 C20orf30,CDS2,PCNA,PCNA-AS1,SLC23A2 NA19113 esv1003384 20 4959740 4965803 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565776 S 3 0 1 "" HuRef esv29526 20 4960937 4965804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11771,esv18645 M 451 0 4 "" NA12006,NA18861,NA19108,NA19257 dgv693n67 20 4961931 4965244 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828678,nsv828679 M 31 0 2 "" AK2,NA18942 dgv97e180 20 4961931 4966019 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1002077,esv1010716 M 3 0 1 "" HuRef nsv179267 20 4967904 4969123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197845 M 24 "" esv2550321 20 4968480 4969556 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315720 S 1 1 0 "" NA18507 esv1061903 20 4969132 4969132 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812301 S 2 1 0 "" HuRef nsv178643 20 4970611 4970896 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197221 M 24 "" nsv519098 20 4989429 4994930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696572 S 2026 0 1 "" nsv912632 20 5084262 5188592 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554710 S 6533 1 0 CDS2 MS20919 nsv833904 20 5200403 5378345 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454908 S 95 1 0 LOC100507629,PROKR2 nsv513535 20 5216100 5216612 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625951 S 1 1 0 "" 1 nsv515639 20 5232380 5246668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673714,nssv686767,nssv679901,nssv672597,nssv679624,nssv658978,nssv662561,nssv692896,nssv674753,nssv698796,nssv688664,nssv667291,nssv673346,nssv683169,nssv674686,nssv654702,nssv688471,nssv684366,nssv679234,nssv656895,nssv664202,nssv682234 M 2026 0 22 PROKR2 nsv522879 20 5237644 5250653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698535 S 2026 0 1 PROKR2 esv29566 20 5237663 5239363 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14408 S 451 0 3 PROKR2 NA07045,NA18523,NA19257 nsv528917 20 5244005 5250653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705604 S 2026 0 1 "" nsv912633 20 5246668 5334982 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551412 S 6533 1 0 "" MS18853 nsv912634 20 5256321 5422117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554711 S 6533 1 0 LOC100507629,LOC643406 MS20919 nsv912635 20 5287502 5545276 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512526 S 6533 1 0 GPCPD1,LOC100507629,LOC149837,LOC643406 SP55548 nsv912636 20 5361169 5535002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521140 S 6533 1 0 GPCPD1,LOC100507629,LOC149837,LOC643406 SP52224 nsv526083 20 5376989 5435848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702327 S 2026 0 1 LOC149837,LOC643406 nsv912637 20 5411452 5765640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551413 S 6533 1 0 C20orf196,GPCPD1,LOC149837 MS18853 nsv179922 20 5419882 5419882 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198500 M 24 "" nsv179834 20 5419937 5419937 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198412 M 24 "" nsv458856 20 5422901 5436644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535732 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC149837 HGDP00556 nsv470537 20 5422901 5436644 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547347 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC149837 HGDP00556 nsv521571 20 5427379 5435848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698187 S 2026 0 1 LOC149837 dgv4523n71 20 5429680 5674401 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912638,nsv912639 M 6533 3 0 GPCPD1,LOC149837 SP53451,SP53560,SP58168 dgv4524n71 20 5468122 5535002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912640,nsv912643,nsv912642,nsv912644 M 6533 0 4 GPCPD1 SP50073,SP50144,SP55986,SP56120 nsv912641 20 5473648 5624783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554712 S 6533 1 0 GPCPD1 MS20919 esv5676 20 5482523 5482945 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28117 S 1 0 1 GPCPD1 SJK nsv912645 20 5535002 5678521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518099 S 6533 1 0 GPCPD1 SP57463 nsv912646 20 5572890 5647559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512527 S 6533 1 0 "" SP55548 esv1519404 20 5573003 5573003 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708410 S 2 1 0 "" HuRef nsv179202 20 5573011 5573011 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197780 M 24 "" nsv519257 20 5589273 5598318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696751 S 2026 0 1 "" nsv3269 20 5605247 5631309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3058 S 9 1 0 "" NA18555 nsv509761 20 5614872 5678807 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619841 S 4 1 0 "" NA10860 nsv180448 20 5628106 5628106 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199026 M 24 "" esv1051863 20 5628169 5628169 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588471 S 2 1 0 "" HuRef esv33031 20 5629664 5632729 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99991 S 51 0 1 "" 22086 nsv507902 20 5638437 5644437 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623301 S 4 1 0 "" NA18994 esv34186 20 5643053 5764858 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C20orf196 nsv522708 20 5645947 5646185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706120 S 2026 0 1 "" nsv828680 20 5647519 5651538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429514 S 31 0 1 "" AK12 nsv3270 20 5672046 5705578 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5865 S 9 1 0 C20orf196 NA19129 nsv833905 20 5702954 5869865 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454909 S 95 1 0 C20orf196,CHGB,TRMT6 nsv3271 20 5716205 5750840 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3059 S 9 1 0 C20orf196 NA18555 nsv470539 20 5735336 5776375 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547349,nssv547348 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf196 HGDP00983,HGDP01281 esv27527 20 5737573 5739247 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12297 S 451 0 1 C20orf196 NA19240 nsv523886 20 5776375 5788539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699728 S 2026 0 1 C20orf196 esv28593 20 5800022 5800884 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20576 S 451 1 0 "" NA12489 nsv525940 20 5851323 5852040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702146 S 2026 0 1 CHGB nsv819052 20 5859911 5867010 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419804 S 2 0 1 TRMT6 AK1 esv2453476 20 5890243 5891704 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277470 S 1 0 1 MCM8 NA18507 esv2244525 20 5890793 5891518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746577 S 1 0 1 MCM8 NA18507 nsv179031 20 5890988 5891316 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197609 M 24 MCM8 esv1746393 20 5891000 5891329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296076 S 2 0 1 MCM8 HuRef esv7029 20 5891007 5891319 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29470 S 1 0 1 MCM8 SJK dgv694n67 20 5973355 5975488 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828681,nsv828683,nsv828682 M 31 0 6 LRRN4 AK2,NA18526,NA18564,NA18592,NA18949,NA18997 esv26522 20 5973413 5975507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20914 S 451 0 3 LRRN4 NA07037,NA11894,NA11995 esv9591 20 5973616 5975560 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32032 S 1 0 1 LRRN4 SJK esv270117 20 6007957 6008200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512486,essv2494841,essv2498463,essv2495654 M 157 4 0 Samples from several populations that are part of the HapMap project. FERMT1 NA18489,NA18519,NA18858,NA18916 nsv518036 20 6008395 6010913 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695447 S 2026 0 1 FERMT1 nsv912647 20 6010330 6029144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500501 S 6533 0 1 FERMT1 SP50103 nsv912648 20 6044695 6092454 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583235 S 6533 1 0 FERMT1 IS36337 nsv522691 20 6078025 6078577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706101 S 2026 0 1 "" esv2482098 20 6098283 6099772 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384167 S 1 0 1 "" NA18507 esv2399493 20 6098753 6099471 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780470 S 1 0 1 "" NA18507 esv5134 20 6098846 6099512 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27575 S 1 0 1 Single Asian sample YH "" YH esv2527705 20 6098946 6099277 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258101 S 1 0 1 "" NA18507 dgv80n6 20 6098946 6099291 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179055,nsv179670 M 24 "" esv9679 20 6098947 6099276 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32120 S 1 0 1 "" SJK esv1391614 20 6098959 6099291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004436 S 2 0 1 "" HuRef nsv833906 20 6160583 6187718 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454918,nssv1454910,nssv1454912,nssv1454917,nssv1454911,nssv1454916,nssv1454913,nssv1454915,nssv1454914 M 95 1 8 "" nsv912649 20 6191193 6298001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568549 S 6533 0 1 "" IS31302 nsv179334 20 6199288 6199367 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197912 M 24 "" nsv180354 20 6199294 6199345 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198932 M 24 "" nsv458859 20 6234656 6309273 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535733 S 1557 0 1 "" 1780854327_A esv1177350 20 6256038 6256038 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4155436 S 2 1 0 "" HuRef nsv833907 20 6258609 6409457 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454920,nssv1454919 M 95 2 0 "" esv275475 20 6265706 6284002 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586185,essv2585661 M 1250 1 1 "" nsv179515 20 6315156 6319517 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198093 M 24 "" nsv3272 20 6345170 6386484 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7646 S 9 0 1 "" NA12156 nsv510482 20 6355051 6361051 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624240,nssv618453,nssv622312,nssv621496 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv833908 20 6357810 6503779 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454922,nssv1454921,nssv1454923 M 95 3 0 "" dgv66n17 20 6364132 6371578 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437837,nsv437836 M 60 0 2 "" NA18863,NA19194 nsv438307 20 6370001 6370570 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470761,nssv470765,nssv470759,nssv470762,nssv470760,nssv470764 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18862,NA18863,NA19160,NA19161,NA19192,NA19194 nsv3273 20 6389858 6423534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7647 S 9 1 0 "" NA12156 esv1510134 20 6391165 6391231 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636179 S 2 0 1 "" HuRef nsv180600 20 6391443 6391498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199178 M 24 "" esv2409065 20 6421718 6422136 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762152 S 1 0 1 "" NA18507 nsv833909 20 6465467 6615589 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454924 S 95 1 0 "" esv268992 20 6523470 6523639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494373,essv2506047,essv2513424,essv2506932,essv2510836,essv2498789 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18523,NA18907,NA19102,NA19116,NA19138 nsv180271 20 6534675 6534730 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198849 M 24 "" nsv833910 20 6566466 6724992 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454925 S 95 1 0 BMP2 esv994821 20 6593840 6593840 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579306 S 3 1 0 "" HuRef esv1758563 20 6593841 6593841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095018 S 2 1 0 "" HuRef esv2368814 20 6627907 6628293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721140 S 1 0 1 "" NA18507 nsv517786 20 6647595 6648202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653244,nssv672530,nssv668733 M 2026 0 3 "" nsv3274 20 6743790 6776927 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7648 S 9 1 0 "" NA12156 esv2621855 20 6769628 6770614 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245469 S 1 1 0 "" NA18507 esv1266734 20 6769979 6769979 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606012 S 2 1 0 "" HuRef nsv3275 20 6789732 6818469 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7649 S 9 0 1 "" NA12156 nsv180537 20 6808578 6814106 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199115 M 24 "" nsv507903 20 6835962 6841962 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620684,nssv619269,nssv623302 M 4 3 0 "" NA10860,NA15510,NA18994 nsv912650 20 6911240 6962445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564887 S 6533 0 1 "" IS30311 esv22322 20 6917682 6918172 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19196 S 451 1 0 "" NA19257 nsv833911 20 6948133 7100128 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454926 S 95 1 0 "" esv275487 20 6954365 6957158 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585222,essv2585849 M 1250 1 1 "" nsv522626 20 6998017 7000333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706024 S 2026 0 1 "" nsv3277 20 7019888 7082881 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9594,nssv6927,nssv2327 M 9 0 3 "" NA12156,NA18507,NA18555 esv2646957 20 7025035 7027508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199285 S 1 0 1 "" NA18507 esv2237679 20 7025582 7027168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603867 S 1 0 1 "" NA18507 nsv180567 20 7034511 7038364 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199145 M 24 "" esv1006515 20 7041973 7051891 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564314 S 3 0 1 "" HuRef nsv436317 20 7043348 7050940 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465703 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2611847 20 7044008 7051313 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373872 S 1 0 1 "" NA18507 nsv512603 20 7044224 7050894 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625215 S 1 0 1 "" 1 esv2203160 20 7044603 7051049 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802910 S 1 0 1 "" NA18507 esv4306 20 7044761 7050937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26747 S 1 0 1 Single Asian sample YH "" YH esv7520 20 7044780 7050857 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29961 S 1 0 1 "" SJK nsv498965 20 7044781 7050859 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585826 S 9 0 1 "" dgv83n6 20 7044782 7050858 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv178607,nsv179777 M 24 "" esv1010820 20 7044784 7050848 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569592 S 3 0 1 "" HuRef esv1377067 20 7044793 7050858 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601100 S 2 0 1 "" HuRef esv2430099 20 7066385 7067788 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176987 S 1 0 1 "" NA18507 esv2017232 20 7066844 7067356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635045 S 1 0 1 "" NA18507 nsv180067 20 7070316 7079155 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198645 M 24 "" nsv912651 20 7099968 7207925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568550 S 6533 0 1 "" IS31302 nsv3278 20 7152802 7186836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1586 S 9 1 0 "" NA19240 nsv912652 20 7168930 8202666 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561743 S 6533 1 0 HAO1,PLCB1,TMX4 MS25205 esv2485140 20 7221614 7223026 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201654 S 1 0 1 "" NA18507 esv2155190 20 7222170 7222835 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751101 S 1 0 1 "" NA18507 esv4696 20 7222268 7222839 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27137 S 1 0 1 Single Asian sample YH "" YH esv6570 20 7222332 7222649 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29011 S 1 0 1 "" SJK dgv84n6 20 7222337 7222663 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv178563,nsv178653 M 24 "" esv1009306 20 7222344 7222656 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576226 S 3 0 1 "" HuRef esv1112099 20 7222350 7222663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882329 S 2 0 1 "" HuRef esv271967 20 7240149 7241291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510202,essv2496665,essv2505528,essv2502854,essv2510302,essv2503761 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA12154,NA12156,NA12414,NA12761 nsv513536 20 7240152 7240216 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625952 S 1 1 0 "" 1 nsv833912 20 7288381 7476529 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454938,nssv1454935,nssv1454928,nssv1454927,nssv1454931,nssv1454950,nssv1454930,nssv1454937,nssv1454936,nssv1454939,nssv1454933,nssv1454932,nssv1454946,nssv1454934,nssv1454945,nssv1454941,nssv1454947,nssv1454944,nssv1454929,nssv1454940,nssv1454943,nssv1454948,nssv1454949,nssv1454942 M 95 24 0 "" nsv3279 20 7310920 7356266 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6928 S 9 0 1 "" NA12156 esv267942 20 7334064 7334381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504553,essv2511108,essv2502359 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA18944,NA18948 nsv511628 20 7337067 7352346 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626261 S 1 0 1 "" 1 nsv512604 20 7346554 7351655 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625216 S 1 0 1 "" 1 nsv498966 20 7346707 7351595 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585827 S 9 0 1 "" nsv514947 20 7346709 7351595 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628343 S 1414 0 1 "" esv28956 20 7346742 7351609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19485 S 451 0 10 "" NA11894,NA11993,NA12004,NA12006,NA12156,NA12414,NA18861,NA19099,NA19147,NA19240 nsv515652 20 7347802 7348195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678325,nssv669849,nssv655240,nssv674000,nssv663191,nssv681256,nssv662735,nssv681804,nssv676714,nssv658094,nssv666719,nssv690607,nssv659874,nssv651942,nssv682202,nssv687347,nssv663484,nssv693138,nssv687667,nssv655173,nssv689424,nssv680558,nssv686779,nssv666020,nssv675347,nssv690104,nssv690957,nssv681912,nssv669217,nssv661933,nssv652608,nssv687216,nssv685582,nssv662795,nssv678946,nssv668832,nssv687478,nssv655475,nssv678054,nssv692897,nssv690566,nssv681697,nssv663246,nssv686400,nssv690712,nssv690982,nssv657322,nssv657023,nssv668250,nssv682930,nssv675412,nssv688029,nssv665099,nssv675815,nssv662562,nssv684866,nssv677386,nssv689763,nssv686742,nssv654478,nssv661762,nssv659248,nssv683417,nssv672949,nssv681140,nssv673166,nssv670319,nssv684936 M 2026 0 68 "" esv999750 20 7351947 7352090 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565514 S 3 1 0 "" HuRef esv1487071 20 7364197 7364197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655996 S 2 1 0 "" HuRef nsv179223 20 7549037 7555572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197801 M 24 "" esv22604 20 7552997 7555560 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21328 S 451 0 4 "" NA18505,NA18523,NA18861,NA19129 nsv833913 20 7577709 7756617 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454951 S 95 1 0 "" esv268534 20 7629095 7629180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519089,essv2513867 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19143 nsv828684 20 7642053 7643137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426292 S 31 1 0 "" AK4 esv28473 20 7647277 7650732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13830 S 451 0 1 "" NA12044 nsv520691 20 7648108 7648582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687052,nssv687071,nssv674123 M 2026 0 3 "" nsv521253 20 7690326 7700366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688617,nssv689181 M 2026 0 2 "" nsv833915 20 7727486 7885950 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454952 S 95 1 0 HAO1 nsv180616 20 7805738 7806358 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199194 M 24 "" esv2422203 20 7897426 8392248 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161475 S 181 1 0 PLCB1,TMX4 ND05461 dgv1304e1 20 8002182 8595665 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv858,essv25097,essv23875 M 271 0 0 PLCB1 NA12814 nsv912653 20 8035581 8530403 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561292,nssv1583473,nssv1534504,nssv1596195 M 6533 4 0 PLCB1 IS36512,IS40433,MS11635,MS24918 nsv458863 20 8044130 8523671 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535735 S 1557 1 0 PLCB1 NINDS_129 nsv521502 20 8044130 8523671 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698117 S 2026 1 0 PLCB1 nsv912654 20 8050867 8148541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533284 S 6533 1 0 PLCB1 MS11078 esv35097 20 8050867 8517610 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986762,essv6978999,essv6979000,essv6986763,essv6990313 M 771 1 0 PLCB1 NA12814 nsv3280 20 8053348 8083975 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6929 S 9 1 0 PLCB1 NA12156 nsv3281 20 8059247 8104964 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6930 S 9 0 1 PLCB1 NA12156 nsv517649 20 8099262 8101919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652666,nssv678098,nssv679473,nssv659402 M 2026 0 4 PLCB1 esv269700 20 8134606 8134691 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519140 S 157 1 0 Samples from several populations that are part of the HapMap project. PLCB1 NA19141 nsv819177 20 8135107 8135824 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419069 S 2 0 1 PLCB1 AK1 nsv828685 20 8141724 8142437 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440761 S 31 0 1 PLCB1 NA18564 dgv240n21 20 8165478 8174894 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522958,nsv525803 M 2026 0 2 PLCB1 nsv912655 20 8171155 8288373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562144 S 6533 0 1 PLCB1 MS25396 nsv521272 20 8256944 8278515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691021,nssv693573 M 2026 0 2 PLCB1 nsv912656 20 8273418 8530403 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561744 S 6533 1 0 PLCB1 MS25205 nsv3282 20 8305182 8350244 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7650 S 9 0 1 PLCB1 NA12156 esv2569373 20 8311098 8311360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268474 S 1 0 1 PLCB1 NA18507 nsv517930 20 8327730 8363399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694182 S 2026 0 1 PLCB1 nsv912657 20 8345222 8404324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524755 S 6533 0 1 PLCB1 SP55209 esv23038 20 8358097 8359094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19284 S 451 0 1 PLCB1 NA07037 esv270632 20 8391440 8391554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511031,essv2496648,essv2499476,essv2495364,essv2503377,essv2502580,essv2507787,essv2503825,essv2493385,essv2508791,essv2500297,essv2496847,essv2511862,essv2494271,essv2509776,essv2496580,essv2494745,essv2500948,essv2507182,essv2494063,essv2495750 M 157 21 0 Samples from several populations that are part of the HapMap project. PLCB1 NA07000,NA11831,NA11894,NA12044,NA12287,NA12716,NA12750,NA12751,NA12761,NA12776,NA12878,NA12891,NA18498,NA18499,NA18502,NA18508,NA18510,NA18519,NA18856,NA18870,NA18871 esv273145 20 8391452 8391522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581918,essv2582295 M 7 2 0 Samples from several populations that are part of the HapMap project. PLCB1 NA12878,NA12891 esv2623512 20 8422264 8423886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343375 S 1 0 1 PLCB1 NA18507 nsv912658 20 8438370 8521437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500341 S 6533 0 1 PLCB1 SP50652 nsv524662 20 8440650 8442748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700631 S 2026 0 1 PLCB1 nsv179513 20 8464652 8468340 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198091 M 24 PLCB1 esv271491 20 8469258 8469612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500448,essv2500018,essv2507930,essv2508606,essv2502452,essv2512345,essv2505383,essv2500775 M 157 8 0 Samples from several populations that are part of the HapMap project. PLCB1 NA18537,NA18558,NA18564,NA18592,NA18948,NA18949,NA18952,NA18973 esv270652 20 8469833 8475252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518480 S 157 1 0 Samples from several populations that are part of the HapMap project. PLCB1 NA12287 nsv179322 20 8470210 8470210 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197900 M 24 PLCB1 esv2295237 20 8499061 8499475 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726026 S 1 0 1 PLCB1 NA18507 nsv178902 20 8499173 8499258 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197480 M 24 PLCB1 esv1042376 20 8499257 8499343 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098257 S 2 0 1 PLCB1 HuRef nsv9782 20 8551632 8558358 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27682 S 31 0 1 Samples from several populations that are part of the HapMap project. PLCB1 NA18502 esv1209654 20 8590777 8590777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200734 S 2 1 0 PLCB1 HuRef esv271597 20 8618584 8618905 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557858,essv2575886,essv2540932,essv2521300,essv2526106,essv2542214,essv2536448,essv2543881,essv2556761,essv2545566,essv2523094,essv2531927,essv2577318,essv2570408,essv2548234,essv2521543,essv2576514,essv2525355,essv2535095,essv2554337,essv2544449,essv2552194,essv2520326,essv2547520,essv2558572,essv2564471,essv2578067,essv2553892,essv2559452,essv2565495,essv2520265,essv2564281,essv2561907,essv2537222,essv2528618,essv2546969,essv2540081,essv2556960,essv2552473,essv2551673,essv2532354,essv2569575,essv2558959,essv2536858,essv2539089,essv2527300,essv2563044,essv2523829,essv2552955,essv2541291,essv2538287,essv2542922,essv2524358,essv2564902,essv2534642,essv2539874,essv2519847,essv2560146,essv2522002,essv2566003,essv2532737,essv2567944,essv2529005,essv2567488,essv2541753,essv2563676,essv2553178,essv2535727,essv2572313,essv2558986,essv2566934,essv2541956,essv2568857,essv2534065,essv2578491,essv2573135,essv2529891,essv2574022,essv2527573,essv2556052,essv2534394,essv2522595,essv2531572,essv2573356,essv2543069,essv2577174,essv2571971,essv2575617,essv2575350,essv2538685,essv2526345,essv2560606,essv2560943,essv2568486,essv2545011,essv2545902,essv2574349,essv2551237,essv2536027,essv2548953,essv2533048,essv2554610,essv2547917,essv2525208,essv2563510 M 157 105 0 Samples from several populations that are part of the HapMap project. PLCB1 NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11992,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18489,NA18501,NA18502,NA18504,NA18505,NA18508,NA18516,NA18517,NA18519,NA18522,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18563,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18916,NA18940,NA18942,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19147,NA19172,NA19239,NA19240,NA19257 esv273603 20 8618584 8618905 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581740,essv2582682,essv2582967,essv2584564,essv2583697 M 7 5 0 Samples from several populations that are part of the HapMap project. PLCB1 NA12878,NA12891,NA12892,NA19239,NA19240 nsv833916 20 8650365 8782501 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454953 S 95 1 0 PLCB1 nsv179314 20 8707792 8707792 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197892 M 24 PLCB1 nsv179312 20 8750134 8750183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197890 M 24 PLCB1 nsv179883 20 8755150 8764491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198461 M 24 PLCB1 esv271672 20 8764474 8764800 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557915,essv2565785,essv2575919,essv2571786,essv2546175,essv2542343,essv2536415,essv2568408,essv2523473,essv2548176,essv2521722,essv2550363,essv2544562,essv2552214,essv2520398,essv2547569,essv2558280,essv2564708,essv2577829,essv2530776,essv2537255,essv2528196,essv2544882,essv2552956,essv2541448,essv2538327,essv2542773,essv2540255,essv2524663,essv2565029,essv2561074,essv2539892,essv2549227,essv2519829,essv2559990,essv2521913,essv2565934,essv2530952,essv2532638,essv2567694,essv2567510,essv2541821,essv2570132,essv2563637,essv2553264,essv2535899,essv2572256,essv2559041,essv2578406,essv2572950,essv2555222,essv2533760,essv2555617,essv2566534,essv2530086,essv2573904,essv2527600,essv2556029,essv2522450,essv2573462,essv2577008,essv2525756,essv2526946,essv2535914,essv2537894,essv2549119,essv2533104,essv2554434,essv2547777,essv2525099 M 157 70 0 Samples from several populations that are part of the HapMap project. PLCB1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11840,NA11881,NA11919,NA11920,NA11995,NA12004,NA12045,NA12144,NA12234,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12873,NA12878,NA12891,NA18526,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18960,NA18964,NA18970,NA18980,NA19005 esv272373 20 8764478 8764806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581884,essv2582396 M 7 2 0 Samples from several populations that are part of the HapMap project. PLCB1 NA12878,NA12891 nsv458864 20 8861264 8893635 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535736 S 1557 0 1 "" 1780862528_A nsv833917 20 8872139 9036846 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454954 S 95 1 0 PLCB4 dgv1305e1 20 8898291 9227700 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16971,esv269 M 271 0 0 PLCB4 NA19144 nsv9783 20 9017314 9023100 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28607 S 31 0 1 Samples from several populations that are part of the HapMap project. PLCB4 NA19221 nsv515892 20 9085424 9100096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692836,nssv665175 M 2026 0 2 PLCB4 nsv179569 20 9097574 9097626 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198147 M 24 PLCB4 nsv528402 20 9100096 9104203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704992 S 2026 0 1 PLCB4 nsv9784 20 9116195 9119630 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25225 S 31 0 1 Samples from several populations that are part of the HapMap project. PLCB4 NA18563 nsv179491 20 9117124 9117219 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198069 M 24 PLCB4 esv23697 20 9117203 9118173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19244 S 451 0 2 PLCB4 NA18916,NA19147 nsv821585 20 9117203 9118173 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420084 S 1 0 1 PLCB4 NA10851 nsv179490 20 9117508 9118179 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198068 M 24 PLCB4 esv1126957 20 9117764 9117764 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319532 S 2 1 0 PLCB4 HuRef nsv3283 20 9152140 9171465 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7651 S 9 0 1 PLCB4 NA12156 nsv3284 20 9232263 9262450 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5866 S 9 1 0 PLCB4 NA19129 nsv529042 20 9257713 9265266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705755 S 2026 0 1 PLCB4 esv23892 20 9265654 9272532 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19610,esv16789,esv20750,esv19209 M 451 16 0 PLCB4 NA06985,NA11993,NA11995,NA12004,NA12006,NA12239,NA12749,NA12878,NA18505,NA18523,NA18858,NA18916,NA19108,NA19114,NA19190,NA19225 nsv912659 20 9270989 9310880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555908 S 6533 0 1 PLCB4 MS21706 nsv178973 20 9337103 9337103 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197551 M 24 PLCB4 nsv458865 20 9362433 9386172 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535737 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLCB4 HGDP00900 nsv3285 20 9411267 9427884 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10283,nssv1587 M 9 2 0 "" NA18956,NA19240 esv274610 20 9425902 9425987 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581168 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv273065 20 9520236 9520457 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579039,essv2579464 M 7 2 0 Samples from several populations that are part of the HapMap project. PAK7 NA19239,NA19240 esv268995 20 9520251 9520545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540698,essv2523286,essv2554172,essv2576390,essv2564189,essv2555023,essv2546865,essv2552505,essv2558812,essv2542736,essv2524317,essv2539567,essv2549237,essv2566123,essv2532617,essv2567977,essv2528869,essv2563708,essv2553239,essv2572567,essv2559218,essv2533507,essv2567154,essv2566487,essv2555937,essv2522394,essv2531295,essv2529748,essv2549844,essv2571475,essv2574278,essv2551307,essv2536198,essv2524973,essv2563165 M 157 35 0 Samples from several populations that are part of the HapMap project. PAK7 NA06986,NA07357,NA10847,NA11831,NA12004,NA12287,NA12814,NA12828,NA12872,NA12892,NA18502,NA18516,NA18550,NA18555,NA18563,NA18564,NA18572,NA18576,NA18577,NA18579,NA18603,NA18605,NA18609,NA18638,NA18944,NA18947,NA18948,NA18956,NA18960,NA18961,NA19093,NA19225,NA19238,NA19240,NA19257 nsv521694 20 9539628 9540617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698315 S 2026 0 1 PAK7 nsv524114 20 9539628 9540676 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699992 S 2026 1 0 PAK7 esv271424 20 9553177 9553505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542548,essv2553633,essv2557056,essv2551900,essv2532102,essv2569815,essv2523655,essv2553082,essv2538348,essv2542642,essv2540274,essv2524677,essv2565020,essv2549500,essv2560130,essv2521938,essv2566186,essv2553499,essv2535704,essv2572586,essv2566848,essv2542156,essv2539407,essv2578133,essv2573877,essv2534494,essv2531555,essv2525581,essv2575722,essv2560721,essv2574732,essv2549926,essv2551215,essv2547987 M 157 34 0 Samples from several populations that are part of the HapMap project. PAK7 NA07347,NA11919,NA12763,NA18501,NA18504,NA18505,NA18520,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18564,NA18570,NA18571,NA18572,NA18605,NA18608,NA18609,NA18853,NA18856,NA18912,NA18940,NA18951,NA18959,NA18961,NA18980,NA19099,NA19116,NA19138,NA19225,NA19257 nsv522383 20 9566761 9567475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695163 S 2026 0 1 PAK7 esv1680592 20 9570126 9570126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015651 S 2 1 0 PAK7 HuRef esv269557 20 9588950 9589057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565719,essv2576009,essv2571070,essv2521664,essv2529417,essv2564388,essv2565260,essv2576484,essv2520228,essv2537242,essv2528530,essv2544821,essv2523821,essv2541134,essv2564972,essv2534560,essv2519663,essv2566223,essv2532584,essv2567651,essv2567616,essv2570111,essv2559099,essv2568920,essv2543520,essv2555383,essv2566551,essv2522582,essv2531289,essv2573670,essv2529617,essv2575216,essv2548683,essv2547681,essv2563434 M 157 35 0 Samples from several populations that are part of the HapMap project. PAK7 NA07037,NA07347,NA10847,NA11829,NA11830,NA11993,NA12144,NA12749,NA12751,NA12812,NA12814,NA12815,NA12878,NA12891,NA18526,NA18537,NA18545,NA18558,NA18561,NA18566,NA18572,NA18576,NA18577,NA18582,NA18593,NA18638,NA18861,NA18870,NA18943,NA18948,NA18960,NA18961,NA18964,NA19093,NA19102 esv272769 20 9588951 9589038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582204,essv2582302 M 7 2 0 Samples from several populations that are part of the HapMap project. PAK7 NA12878,NA12891 esv1922572 20 9595892 9596341 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666646 S 1 0 1 PAK7 NA18507 dgv85n6 20 9644762 9644823 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179947,nsv179433 M 24 PAK7 nsv458867 20 9650970 9658169 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535738 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PAK7 HGDP00467 nsv517670 20 9650970 9658169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652772,nssv667125,nssv697183,nssv674688 M 2026 0 4 PAK7 esv1107872 20 9694951 9694951 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610215 S 2 1 0 PAK7 HuRef esv273784 20 9708867 9711018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579363,essv2579521 M 7 2 0 Samples from several populations that are part of the HapMap project. PAK7 NA19239,NA19240 nsv527514 20 9792170 9796516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703968 S 2026 0 1 "" nsv522874 20 9847439 10767210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698529 S 2026 0 1 ANKRD5,C20orf94,JAG1,LOC100131208,MKKS,SNAP25 nsv833918 20 9879029 10005754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454955 S 95 0 1 ANKRD5,LOC100131208 nsv3286 20 9890270 9914814 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9363 S 9 1 0 "" NA18517 esv2523716 20 9914648 9915993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343312 S 1 0 1 "" NA18507 nsv519576 20 9923888 9930725 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692898,nssv656949 M 2026 2 0 "" nsv833919 20 9964401 10159635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454956 S 95 1 0 ANKRD5,LOC100131208,SNAP25 nsv3288 20 9970923 10015541 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7652 S 9 0 1 ANKRD5,LOC100131208 NA12156 nsv524009 20 10012529 10016488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699869 S 2026 0 1 LOC100131208 nsv526862 20 10040642 10050530 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703220 S 2026 1 0 LOC100131208 esv1485898 20 10046365 10046365 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150104 S 2 1 0 LOC100131208 HuRef nsv3289 20 10069599 10093732 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7653 S 9 0 1 LOC100131208 NA12156 esv994554 20 10078762 10078823 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574194 S 3 0 1 LOC100131208 HuRef esv1236722 20 10078873 10078935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980277 S 2 0 1 LOC100131208 HuRef nsv180050 20 10078897 10078963 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198628 M 24 LOC100131208 nsv912660 20 10103105 10234313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533285 S 6533 1 0 LOC100131208,SNAP25 MS11078 nsv3290 20 10152962 10188299 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1588 S 9 1 0 SNAP25 NA19240 nsv828687 20 10169309 10169786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432573 S 31 0 1 SNAP25 AK20 nsv912661 20 10250333 10308051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533286 S 6533 1 0 "" MS11078 esv259527 20 10252470 10252817 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394100,essv2393915,essv2393828,essv2394034,essv2394330 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 nsv179520 20 10252570 10252570 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198098 M 24 "" esv271011 20 10325884 10326219 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521455,essv2570880,essv2531775,essv2552107,essv2520599,essv2565405,essv2530821,essv2552625,essv2532446,essv2550118,essv2558794,essv2527084,essv2544963,essv2542769,essv2565093,essv2561226,essv2519646,essv2570127,essv2553225,essv2572569,essv2559046,essv2542120,essv2527948,essv2555226,essv2567071,essv2529885,essv2573937,essv2543086,essv2525703,essv2524294,essv2574907,essv2572891,essv2568784,essv2545216,essv2560464,essv2545791,essv2574466,essv2551266,essv2549089 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11894,NA11993,NA12006,NA12489,NA12716,NA12812,NA12873,NA18502,NA18505,NA18511,NA18516,NA18522,NA18526,NA18550,NA18558,NA18562,NA18566,NA18593,NA18605,NA18609,NA18638,NA18856,NA18907,NA18943,NA18947,NA18949,NA18951,NA18965,NA18980,NA19129,NA19138,NA19143,NA19147,NA19172,NA19190,NA19239,NA19240,NA19257 esv273559 20 10325885 10326218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584657,essv2583681 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv507904 20 10376997 10382997 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619270,nssv620685 M 4 2 0 C20orf94 NA10860,NA15510 nsv833920 20 10388840 10579699 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454957 S 95 1 0 C20orf94,JAG1 nsv507905 20 10469975 10475975 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617947,nssv620686,nssv623303,nssv619271 M 4 4 0 C20orf94 CHM,NA10860,NA15510,NA18994 nsv3291 20 10552298 10584430 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6932 S 9 1 0 JAG1 NA12156 esv2045561 20 10731193 10731661 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4529276 S 1 0 1 "" NA18507 nsv513713 20 10734036 10736687 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626965 S 1 0 0 "" 1 esv2432280 20 10736007 10737383 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281642 S 1 0 0 "" NA18507 nsv912662 20 10771506 10812326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553955 S 6533 0 1 "" MS20440 dgv4525n71 20 10839798 10911675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912664,nsv912663 M 6533 0 2 "" IS35789,MS21258 dgv1306e1 20 10840138 11064725 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21766,essv16882,essv9927,essv10916,essv12677,essv11497,esv42 M 271 0 0 "" NA12239,NA18500,NA19145,NA19173,NA19205,NA19209 nsv178660 20 10958924 10967209 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197238 M 24 "" nsv528348 20 10961452 10962704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704932 S 2026 0 1 "" nsv521990 20 10966626 10985154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694757 S 2026 0 1 "" nsv912665 20 10985154 11034830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568551 S 6533 0 1 "" IS31302 nsv7339 20 10993625 12908119 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9364 S 9 0 0 BTBD3,LOC339593 NA18517 nsv510483 20 11159221 11165221 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622313,nssv624241,nssv618454 M 4 0 3 "" CHM,NA10860,NA18994 nsv819382 20 11179079 11180630 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419283 S 2 0 1 "" AK1 nsv3292 20 11181247 11215986 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7654 S 9 0 1 LOC339593 NA12156 nsv458869 20 11219614 11254751 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535739 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00926 nsv3293 20 11233092 11242270 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10284 S 9 1 0 "" NA18956 nsv522929 20 11359026 11464418 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698592 S 2026 1 0 "" esv2474197 20 11464362 11465839 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267921 S 1 0 1 "" NA18507 esv1930278 20 11465072 11465793 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549600 S 1 0 1 "" NA18507 esv5052 20 11465234 11465712 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27493 S 1 0 1 Single Asian sample YH "" YH dgv87n6 20 11465266 11465601 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179209,nsv180019 M 24 "" esv7329 20 11465278 11465590 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29770 S 1 0 1 "" SJK esv22730 20 11595495 11596765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9788 S 451 0 3 "" NA07045,NA12828,NA19129 dgv1307e1 20 11638021 12381393 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16060,esv857 M 271 0 0 BTBD3 NA18501 nsv912666 20 11721203 11747880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528100 S 6533 0 1 "" SP81131 dgv1308e1 20 11737907 12235765 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9569,essv13324,essv12644 M 271 0 0 BTBD3 NA18500,NA18501 dgv168e55 20 11754600 12230700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34727,esv34746 M 771 2 0 BTBD3 NA18500,NA18501 nsv9785 20 11768348 11773191 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26000 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv833921 20 11810667 11951142 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454958 S 95 1 0 BTBD3 esv271822 20 11833914 11833999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519087 S 157 1 0 Samples from several populations that are part of the HapMap project. BTBD3 NA19141 nsv912667 20 11909965 11936849 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531511 S 6533 1 0 "" MS10510 esv25022 20 11928855 11937333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12083 S 451 0 1 "" NA19257 nsv833922 20 11956348 12134483 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454959 S 95 0 1 "" dgv4526n71 20 12087544 12324181 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912670,nsv912671,nsv912668,nsv912673,nsv912669 M 6533 5 0 "" SP51338,SP52656,SP52851,SP57322,SP81157 nsv912672 20 12101396 12214763 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522985 S 6533 1 0 "" SP53539 nsv9786 20 12189322 12216971 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28608 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv528024 20 12250448 12294236 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704553 S 2026 1 0 "" nsv9787 20 12259622 12262043 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27537 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 dgv4527n71 20 12328531 12443017 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912674,nsv912675 M 6533 3 0 "" SP51338,SP53539,SP81157 dgv4528n71 20 12357405 12615678 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912676,nsv912677 M 6533 2 0 "" SP52656,SP57322 nsv912678 20 12368731 12507521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571424 S 6533 1 0 "" IS32732 esv2157551 20 12388413 12388845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874168 S 1 0 1 "" NA18507 nsv517125 20 12412082 12417505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691911,nssv680936,nssv659753,nssv684364,nssv665449,nssv686162,nssv653826 M 2026 0 7 "" nsv527645 20 12431602 12507521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704116 S 2026 0 1 "" dgv4529n71 20 12455646 12615678 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912681,nsv912679 M 6533 2 0 "" SP52851,SP53539 nsv912680 20 12460142 12598325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546249 S 6533 0 1 "" MS17114 esv267731 20 12491559 12491884 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510184,essv2493480,essv2510606,essv2502953 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12763,NA18501,NA18507 nsv458870 20 12527343 12556070 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535740 S 1557 0 1 "" 1780862459_A nsv912682 20 12538921 12615678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528206 S 6533 1 0 "" SP81157 nsv819056 20 12568111 12573737 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419722 S 2 1 0 "" AK1 esv28056 20 12575634 12789804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18943 S 451 0 1 "" NA18511 nsv912683 20 12580854 12611090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502688 S 6533 1 0 "" SP51338 dgv1309e1 20 12581827 12609944 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv876,essv13325 M 271 0 0 "" NA18500 esv2201264 20 12589754 12590256 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511805 S 1 0 1 "" NA18507 esv3527 20 12589905 12590143 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25968 S 1 0 1 Single Asian sample YH "" YH nsv178600 20 12589936 12590063 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197178 M 24 "" essv9582 20 12599075 12609633 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18501 nsv9788 20 12616451 12625063 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26107,nssv26458 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA19144,NA19173 nsv828688 20 12658518 12659348 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434812 S 31 0 1 "" NA18570 nsv527331 20 12661069 12661699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703756 S 2026 0 1 "" esv5862 20 12669311 12669364 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28303 S 1 1 0 "" SJK nsv522376 20 12678872 12719339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695155 S 2026 0 1 "" nsv912684 20 12682299 13259983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499591 S 6533 0 1 ISM1,LOC100505536,SPTLC3 SP50652 nsv518184 20 12691808 13292672 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695606 S 2026 1 0 ISM1,LOC100505536,SPTLC3 esv2449343 20 12740899 12742538 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178041 S 1 0 1 "" NA18507 esv2751905 20 12751688 12886100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984397,essv6987588,essv6988799 M 771 1 0 "" BEC_701 esv5708 20 12825696 12825786 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28149 S 1 1 0 "" SJK nsv833923 20 12852689 13012426 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454961,nssv1454960,nssv1454963,nssv1454962 M 95 2 2 SPTLC3 nsv525856 20 12889696 12895126 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702051 S 2026 0 1 "" nsv179108 20 12911793 12911793 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197686 M 24 "" nsv833924 20 12945093 13137239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454964 S 95 1 0 SPTLC3 esv2017186 20 12995498 12995944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910815 S 1 0 1 SPTLC3 NA18507 nsv912685 20 13082768 13182124 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561534 S 6533 1 0 ISM1,LOC100505536,SPTLC3 MS25058 esv27679 20 13149379 13150490 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10466 S 451 0 1 ISM1 NA12489 nsv912686 20 13153338 13259983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588563 S 6533 1 0 ISM1,LOC100505536 IS38216 esv29075 20 13181949 13395810 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14953,esv21228,esv17900 M 451 7 0 ISM1,TASP1 NA07037,NA07045,NA11995,NA12489,NA12749,NA18508,NA18511 esv1732886 20 13287660 13287660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884842 S 2 1 0 "" HuRef nsv178651 20 13350619 13358123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197229 M 24 TASP1 nsv520595 20 13369045 13395896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697510 S 2026 0 1 TASP1 esv1922220 20 13431093 13431531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911294 S 1 0 1 TASP1 NA18507 nsv912687 20 13455057 13539596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592570 S 6533 0 1 TASP1 IS39243 nsv912688 20 13494903 13537682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514474 S 6533 0 1 TASP1 SP56004 nsv912689 20 13518331 14103881 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520927 S 6533 1 0 C20orf7,ESF1,MACROD2,SEL1L2,TASP1 SP51311 nsv3294 20 13575821 13583341 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6933 S 9 1 0 "" NA12156 esv268688 20 13652123 13652464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519212,essv2516972,essv2514205,essv2518804,essv2515420,essv2518627,essv2516609,essv2515572,essv2517842,essv2516203,essv2516896,essv2519159,essv2519370 M 157 13 0 Samples from several populations that are part of the HapMap project. ESF1 NA07346,NA11894,NA11931,NA12043,NA12045,NA12249,NA12287,NA12814,NA12815,NA12878,NA12891,NA12892,NA19141 esv272957 20 13652131 13652462 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581982,essv2582501,essv2583209 M 7 3 0 Samples from several populations that are part of the HapMap project. ESF1 NA12878,NA12891,NA12892 esv1607153 20 13652161 13652161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766984 S 2 1 0 ESF1 HuRef nsv3295 20 13752995 13787665 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4522 S 9 1 0 SEL1L2 NA12878 esv999444 20 13840705 13844408 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563493 S 3 1 0 SEL1L2 HuRef nsv509762 20 13859162 13892836 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618135,nssv619842,nssv623822,nssv621122 M 4 4 0 SEL1L2 CHM,NA10860,NA15510,NA18994 nsv3296 20 13861608 13911133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4523,nssv9863,nssv10285,nssv7655,nssv1589,nssv2328 M 9 6 0 SEL1L2 NA12156,NA12878,NA18507,NA18555,NA18956,NA19240 nsv513537 20 13862884 13863137 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625953 S 1 1 0 SEL1L2 1 esv1388307 20 13863001 13863001 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993351 S 2 1 0 SEL1L2 HuRef esv1553078 20 13863019 13863019 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257788 S 2 1 0 SEL1L2 HuRef esv1485899 20 13863076 13863076 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173863 S 2 1 0 SEL1L2 HuRef esv1588937 20 13863134 13863134 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049872 S 2 1 0 SEL1L2 HuRef esv998605 20 13880018 13880479 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563858 S 3 1 0 SEL1L2 HuRef nsv179414 20 13911175 13911669 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197992 M 24 SEL1L2 nsv526954 20 13943214 14003947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703326 S 2026 0 1 MACROD2 nsv458872 20 14137779 14265390 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535741 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLRT3,MACROD2 HGDP00627 nsv470540 20 14137779 14265390 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547350 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLRT3,MACROD2 HGDP00627 esv28313 20 14220053 14226825 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19256 S 451 0 3 MACROD2 NA18502,NA18508,NA19257 nsv3297 20 14315944 14348623 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6934 S 9 1 0 MACROD2 NA12156 esv272333 20 14343983 14344314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580957,essv2579127 M 7 2 0 Samples from several populations that are part of the HapMap project. MACROD2 NA19238,NA19239 nsv833926 20 14358153 14520336 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454965 S 95 1 0 MACROD2 nsv523791 20 14368556 14382250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699618 S 2026 0 1 MACROD2 esv22137 20 14370471 14387945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13596,esv12008 M 451 0 3 MACROD2 NA06985,NA19108,NA19225 nsv442480 20 14376080 14390471 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MACROD2 nsv514930 20 14376471 14387889 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628344 S 1414 0 1 MACROD2 nsv817882 20 14382250 14405834 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418331,nssv1418332 M 112 0 2 MACROD2 NA19092,NA19094 nsv524145 20 14403497 14414618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700023 S 2026 0 1 MACROD2 esv2642881 20 14414307 14414370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186219 S 1 0 1 MACROD2 NA18507 nsv179622 20 14425294 14426955 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198200 M 24 MACROD2 esv26948 20 14425380 14426896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21327 S 451 0 4 MACROD2 NA18508,NA18858,NA18909,NA19240 nsv912690 20 14436761 14501745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510562 S 6533 0 1 MACROD2 SP54967 esv271944 20 14440496 14440833 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494685,essv2504709 M 157 2 0 Samples from several populations that are part of the HapMap project. MACROD2 NA18519,NA19099 nsv912691 20 14443489 14484808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565315 S 6533 0 1 MACROD2 IS30389 esv4540 20 14477016 14477460 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26981 S 1 0 1 Single Asian sample YH MACROD2 YH esv6308 20 14477066 14477392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28749 S 1 0 1 MACROD2 SJK dgv88n6 20 14477069 14477395 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179949,nsv178641 M 24 MACROD2 esv1002658 20 14477075 14477387 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579007 S 3 0 1 MACROD2 HuRef esv1561620 20 14477082 14477395 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863444 S 2 0 1 MACROD2 HuRef nsv517905 20 14484808 14574845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695316 S 2026 0 1 MACROD2 nsv912692 20 14486864 14598357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534178 S 6533 0 1 MACROD2 MS11467 dgv241n21 20 14501745 14521967 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527332,nsv528856 M 2026 0 2 MACROD2 dgv4530n71 20 14507429 14568954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912694,nsv912693 M 6533 0 4 MACROD2 IS39243,MS10515,MS15389,MS20039 esv8999 20 14519771 14521850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31440 S 1 0 1 MACROD2 SJK nsv912695 20 14527703 14940542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591004 S 6533 0 1 MACROD2,MACROD2-AS1 IS38617 dgv4531n71 20 14574845 14679595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912696,nsv912697 M 6533 0 2 MACROD2 SP54768,SP55349 esv2751906 20 14606364 14974100 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983626,essv6983625,essv6989382,essv6989832 M 771 0 1 MACROD2,MACROD2-AS1 BEC_674 dgv501n27 20 14606870 14761002 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458879,nsv458877 M 1557 0 2 MACROD2 1782681555_A,HGDP00683 nsv517126 20 14616243 14662457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680937,nssv653827,nssv656825,nssv688340 M 2026 0 4 MACROD2 dgv4532n71 20 14620177 14849776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912699,nsv912698 M 6533 0 3 MACROD2,MACROD2-AS1 MS10287,MS11497,MS21420 nsv912700 20 14626135 14687839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563949 S 6533 0 1 MACROD2 IS30134 nsv179889 20 14628401 14628460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198467 M 24 MACROD2 dgv4533n71 20 14630334 14801050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912701,nsv912705,nsv912704,nsv912703,nsv912702,nsv912706 M 6533 0 10 MACROD2 IS30473,IS34964,IS36939,IS39417,MS10764,MS14260,MS15402,MS16242,MS17973,MS25052 dgv242n21 20 14634297 14742361 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525733,nsv526915 M 2026 0 2 MACROD2 esv2422304 20 14647810 14874297 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161288 S 181 0 1 MACROD2,MACROD2-AS1 ND03938 dgv1310e1 20 14653888 14803457 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22171,essv17860,esv547 M 271 0 0 MACROD2 NA10857 nsv517845 20 14653888 14814618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695250 S 2026 0 1 MACROD2,MACROD2-AS1 nsv912707 20 14657451 14680585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501792 S 6533 0 1 MACROD2 SP50877 dgv4534n71 20 14662457 14746517 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912708,nsv912711 M 6533 0 2 MACROD2 IS35867,SP57600 dgv4535n71 20 14662457 14801050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912717,nsv912713,nsv912709,nsv912712,nsv912715,nsv912718 M 6533 0 8 MACROD2 IS30605,IS35654,MS10228,MS16832,MS17779,MS25579,SP50523,SP57690 dgv4536n71 20 14662457 14866814 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912736,nsv912716,nsv912722,nsv912721,nsv912719,nsv912720,nsv912710,nsv912714 M 6533 0 8 MACROD2,MACROD2-AS1 IS32312,MS10636,MS20957,MS21117,SP50058,SP52893,SP55843,SP56922 nsv458882 20 14679595 14709710 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535745 S 1557 0 1 MACROD2 1780862071_A dgv243n21 20 14679595 14806910 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523283,nsv517275 M 2026 0 39 MACROD2 dgv502n27 20 14685843 14965240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458890,nsv458886 M 1557 0 2 MACROD2,MACROD2-AS1 HGDP00372,HGDP00643 nsv470541 20 14685843 15021680 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547360,nssv547352,nssv547354,nssv547359,nssv547355,nssv547351,nssv547353,nssv547358 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2,MACROD2-AS1 HGDP00066,HGDP00548,HGDP00643,HGDP00675,HGDP00693,HGDP00700,HGDP01299,HGDP01303 dgv4537n71 20 14691905 15014439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912749,nsv912723,nsv912750 M 6533 0 3 MACROD2,MACROD2-AS1 IS39519,SP50571,SP56390 dgv4538n71 20 14695471 14746517 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912728,nsv912724,nsv912725,nsv912727,nsv912726 M 6533 0 5 MACROD2 SP50627,SP52220,SP52455,SP57941,SP58249 nsv912729 20 14695471 14778453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523795 S 6533 0 1 MACROD2 SP54214 nsv185 20 14700001 14897555 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv185 S 1 0 1 MACROD2,MACROD2-AS1 NA15510 nsv3300 20 14700001 14897555 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11035,nssv7657 M 9 0 2 MACROD2,MACROD2-AS1 NA12156,NA15510 nsv458888 20 14706111 14733326 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535749 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2 HGDP01303 nsv458889 20 14706111 14755599 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535750 S 1557 0 1 MACROD2 1780862229_A nsv912730 20 14707169 14732595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503239 S 6533 0 1 MACROD2 SP52017 dgv4539n71 20 14707169 14752348 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912732,nsv912731 M 6533 0 7 MACROD2 IS34789,MS10324,MS11537,MS12180,MS12648,MS13498,MS21525 dgv503n27 20 14707169 14797576 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458892,nsv458891 M 1557 0 2 MACROD2 HGDP00548,NINDS_206 dgv4540n71 20 14707169 14820313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912734,nsv912733,nsv912741,nsv912735,nsv912738 M 6533 0 6 MACROD2,MACROD2-AS1 IS30478,IS36099,MS15410,MS18620,MS25139,SP54166 dgv169e55 20 14709710 14792049 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2751907,esv34236,esv34959 M 771 0 3 MACROD2 BEC_51,NA10857,NA12043 esv33655 20 14719280 14884551 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101471,essv98904,essv97575,essv97532,essv101201,essv93932,essv100779,essv96859,essv101020,essv95203,essv98303,essv94744,essv94001,essv101428,essv94375,essv96883,essv97836,essv95579,essv95474,essv93156,essv95272,essv97295,essv101717,essv95769,essv94597,essv99123,essv92979,essv92817,essv93725,essv96098,essv96639,essv97192,essv98539,essv100089,essv95948,essv93573,essv93323,essv99582,essv94961,essv92592,essv98055,essv96488,essv99234,essv97677,essv100124,essv100580,essv100308,essv99508,essv98378,essv96375,essv94260 M 51 50 0 MACROD2,MACROD2-AS1 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 nsv498967 20 14719512 14887611 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585828 S 9 0 1 MACROD2,MACROD2-AS1 esv26952 20 14719533 14887565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15007 S 451 0 1 MACROD2,MACROD2-AS1 NA15510 nsv435740 20 14719603 14889933 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465704 S 2 0 1 MACROD2,MACROD2-AS1 NA15510 dgv4541n71 20 14720789 14785965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912739,nsv912740,nsv912737 M 6533 0 6 MACROD2 IS38251,MS17193,SP54217,SP55473,SP55624,SP81387 nsv433323 20 14720789 14884935 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463204 S 9 0 1 MACROD2,MACROD2-AS1 NA15510 nsv437184 20 14724940 14777382 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467065 S 60 0 1 Samples from several populations that are part of the HapMap project. MACROD2 NA10857 nsv522604 20 14725701 14884935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705996 S 2026 0 1 MACROD2,MACROD2-AS1 nsv817883 20 14728785 14770129 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417072,nssv1417061 M 112 0 2 MACROD2 NA10857,NA12043 nsv514931 20 14729628 14755462 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628345 S 1414 0 1 MACROD2 dgv504n27 20 14729684 14765453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458900,nsv458901,nsv458894,nsv458906,nsv458902,nsv458908,nsv458893,nsv458903 M 1557 0 8 MACROD2 1780854257_A,1780862585_A,1782681091_A,1782681094_A,HGDP00806,HGDP01155,NINDS_105,NINDS_38 dgv505n27 20 14729684 14771472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458899,nsv458895,nsv458905,nsv458904,nsv458898,nsv458897 M 1557 0 6 MACROD2 1780854567_A,1798860280_A,HGDP00526,HGDP00810,NINDS_200,NINDS_60 essv23099 20 14729684 14792049 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MACROD2 NA12043 esv29969 20 14729684 14888687 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84208 S 2 1 0 MACROD2,MACROD2-AS1 HuRef nsv438308 20 14742361 14771472 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470769,nssv470767,nssv470766,nssv470768 M 269 0 2 Samples from several populations that are part of the HapMap project. MACROD2 NA10857,NA12043 nsv912742 20 14742361 14802935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565003 S 6533 0 1 MACROD2 IS30332 nsv458909 20 14746517 14771472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535770 S 1557 0 1 MACROD2 1782681079_A dgv4542n71 20 14746517 14913823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912759,nsv912743,nsv912748,nsv912753 M 6533 0 4 MACROD2,MACROD2-AS1 IS31748,IS33763,IS40502,SP54042 nsv458911 20 14749353 14761002 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535771 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2 HGDP00244 nsv912744 20 14749353 14770129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556316 S 6533 0 1 MACROD2 MS21905 nsv912745 20 14755599 14771472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598691 S 6533 0 1 MACROD2 IS41202 nsv912746 20 14755599 14778453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600719 S 6533 0 1 MACROD2 IS41920 dgv4543n71 20 14755599 14838211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912747,nsv912756,nsv912757,nsv912755,nsv912752 M 6533 0 5 MACROD2,MACROD2-AS1 IS38513,MS12638,MS24000,MS24968,SP57042 esv34049 20 14759021 14766197 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MACROD2 nsv9789 20 14759977 14763093 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27545 S 31 0 1 Samples from several populations that are part of the HapMap project. MACROD2 NA19132 nsv520315 20 14760532 14965240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697344 S 2026 0 1 MACROD2,MACROD2-AS1 nsv912751 20 14762090 14796659 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532293 S 6533 0 1 MACROD2 MS10739 dgv4544n71 20 14765453 15137598 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912754,nsv912769,nsv912767 M 6533 0 3 MACROD2,MACROD2-AS1 IS32523,IS38030,IS41672 nsv912758 20 14778453 14820313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557235 S 6533 0 1 MACROD2,MACROD2-AS1 MS22505 dgv4545n71 20 14785965 14838211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912760,nsv912761 M 6533 0 2 MACROD2,MACROD2-AS1 IS31553,IS38126 dgv506n27 20 14788438 14818398 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458913,nsv458912 M 1557 0 2 MACROD2,MACROD2-AS1 HGDP00700,HGDP00733 dgv507n27 20 14788438 14879494 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458915,nsv458914 M 1557 0 2 MACROD2,MACROD2-AS1 HGDP00675,HGDP00725 esv1217837 20 14791171 14791171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820983 S 2 1 0 MACROD2 HuRef nsv458916 20 14796659 14915506 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535776 S 1557 0 1 MACROD2,MACROD2-AS1 NINDS_117 dgv4546n71 20 14797388 14866814 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912763,nsv912762 M 6533 0 3 MACROD2,MACROD2-AS1 MS12861,MS22728,MS24714 nsv912764 20 14802935 14828327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512196 S 6533 0 1 MACROD2,MACROD2-AS1 SP55345 nsv912765 20 14802935 14849776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591363 S 6533 0 1 MACROD2,MACROD2-AS1 IS38724 dgv4547n71 20 14802935 14973831 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912766,nsv912770,nsv912768 M 6533 0 3 MACROD2,MACROD2-AS1 IS34555,IS36481,IS37820 nsv520440 20 14806910 14884935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671444,nssv683860 M 2026 0 2 MACROD2,MACROD2-AS1 nsv458917 20 14810972 14856741 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535777 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2,MACROD2-AS1 HGDP00693 esv34302 20 14817903 14888687 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978910,essv6978909,essv6989053 M 771 0 1 MACROD2,MACROD2-AS1 NA12761 dgv1311e1 20 14825886 14863051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21640,esv1421 M 271 0 0 MACROD2,MACROD2-AS1 NA12761 dgv4548n71 20 14832301 14884935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912772,nsv912771 M 6533 0 3 MACROD2,MACROD2-AS1 IS40801,IS40955,SP51192 nsv912773 20 14838211 14940542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557015 S 6533 0 1 MACROD2,MACROD2-AS1 MS22327 esv2751908 20 14847400 14897000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985083,essv6989473 M 771 0 1 MACROD2,MACROD2-AS1 BEC_94 dgv4549n71 20 14849776 15155464 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912778,nsv912774 M 6533 0 3 MACROD2,MACROD2-AS1 IS38012,IS40681,SP52113 esv2422391 20 14851206 14956995 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161472 S 181 0 1 MACROD2,MACROD2-AS1 ND04305 nsv912775 20 14855661 14897763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554272 S 6533 0 1 MACROD2,MACROD2-AS1 MS20702 nsv458920 20 14869606 14991623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535779 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2 HGDP00066 dgv4550n71 20 14875862 14985615 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912776,nsv912779 M 6533 0 2 MACROD2 IS32770,MS25227 esv1570507 20 14883696 14883696 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593810 S 2 1 0 MACROD2 HuRef nsv519461 20 14884935 14965240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696866 S 2026 0 1 MACROD2 dgv4551n71 20 14884935 15089959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912777,nsv912780 M 6533 0 2 MACROD2 IS41758,MS18123 nsv528455 20 14897763 14915506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705055 S 2026 0 1 MACROD2 nsv912781 20 14940542 15001067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522191,nssv1519267 M 6533 0 2 MACROD2 SP52800,SP80992 nsv912782 20 14943343 15051600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566564 S 6533 0 1 MACROD2 IS30781 nsv524481 20 14955730 15330919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700419 S 2026 0 1 MACROD2 nsv458922 20 14960297 14991623 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535780 S 1557 1 0 MACROD2 1780854481_A nsv520328 20 14973831 15025030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697351 S 2026 0 1 MACROD2 nsv458923 20 14980845 15012452 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535781 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2 HGDP01299 nsv912783 20 14980845 15040864 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595706 S 6533 1 0 MACROD2 IS40299 nsv516721 20 15000514 15091806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706039,nssv704488,nssv686389,nssv670438 M 2026 0 4 MACROD2 nsv912784 20 15001067 15024599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548231 S 6533 0 1 MACROD2 MS17755 nsv458927 20 15011679 15091806 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535782 S 1557 0 1 MACROD2 NINDS_247 nsv458928 20 15024599 15031626 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535783 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MACROD2 HGDP00157 nsv180164 20 15028617 15030180 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198742 M 24 MACROD2 nsv179863 20 15030195 15036011 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198441 M 24 MACROD2 dgv4552n71 20 15034277 15084730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912785,nsv912786 M 6533 0 6 MACROD2 IS36600,MS10141,MS15509,MS19746,MS24792,MS25087 nsv526767 20 15034277 15171632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703119 S 2026 0 1 MACROD2 esv2547049 20 15035213 15036207 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173044 S 1 1 0 MACROD2 NA18507 esv268091 20 15035640 15036006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521260,essv2570846,essv2550671,essv2525222,essv2544435,essv2547316,essv2553721,essv2562148,essv2537308,essv2528526,essv2546998,essv2520930,essv2557431,essv2556835,essv2551936,essv2532163,essv2562738,essv2569487,essv2578785,essv2549989,essv2558711,essv2538928,essv2561327,essv2542906,essv2540350,essv2524678,essv2534658,essv2561020,essv2549174,essv2560026,essv2522128,essv2531014,essv2532578,essv2528776,essv2567528,essv2541466,essv2569944,essv2553505,essv2535566,essv2572228,essv2559387,essv2566702,essv2551161,essv2569080,essv2543633,essv2556368,essv2527857,essv2562263,essv2578269,essv2573162,essv2555304,essv2533734,essv2567226,essv2566341,essv2530111,essv2573859,essv2527710,essv2557727,essv2531406,essv2573567,essv2543146,essv2577058,essv2529562,essv2526535,essv2560791,essv2524081,essv2574711,essv2572917,essv2568532,essv2545130,essv2560433,essv2549651,essv2571242,essv2545891,essv2574265,essv2551337,essv2538105,essv2549088,essv2554718,essv2547693,essv2525178 M 157 81 0 Samples from several populations that are part of the HapMap project. MACROD2 NA07000,NA07037,NA07346,NA07347,NA07357,NA11894,NA11993,NA12155,NA12156,NA12414,NA12717,NA12763,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18519,NA18523,NA18550,NA18552,NA18555,NA18561,NA18562,NA18564,NA18570,NA18571,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18961,NA18964,NA18965,NA18970,NA19093,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272519 20 15035642 15036006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582261,essv2582715,essv2582951,essv2584304,essv2584688,essv2583329 M 7 6 0 Samples from several populations that are part of the HapMap project. MACROD2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1400419 20 15035673 15035673 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812655 S 2 1 0 MACROD2 HuRef esv268270 20 15054579 15054900 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565724,essv2546260,essv2542290,essv2536799,essv2522772,essv2544001,essv2545394,essv2523114,essv2521646,essv2576700,essv2550739,essv2520373,essv2577774,essv2576497,essv2520027,essv2564176,essv2548731,essv2533375,essv2554466,essv2547894,essv2524825,essv2563216 M 157 22 0 Samples from several populations that are part of the HapMap project. MACROD2 NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11881,NA11919,NA11920,NA11931,NA11992,NA12003,NA12004,NA12144,NA12154,NA12155,NA12716,NA12761,NA12814,NA12815,NA12828 nsv3301 20 15055532 15089567 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5867 S 9 0 1 MACROD2 NA19129 nsv458930 20 15058426 15089004 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535785 S 1557 0 1 MACROD2 NINDS_152 nsv458932 20 15091806 15125309 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535786 S 1557 0 1 MACROD2 1780862042_A nsv522855 20 15126253 15127023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698509 S 2026 0 1 MACROD2 esv275593 20 15183424 15187469 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585928 S 1250 0 1 MACROD2 nsv524294 20 15194472 15196832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700195 S 2026 0 1 MACROD2 nsv912787 20 15223538 15257089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601245 S 6533 0 1 MACROD2 IS41992 dgv4553n71 20 15223538 15300001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912789,nsv912788 M 6533 0 4 MACROD2 IS32891,IS33747,IS35789,IS37293 dgv1312e1 20 15230448 15271282 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15973,essv8659,essv7874,essv16183 M 271 0 0 MACROD2 NA18506,NA19101,NA19140,NA19142 dgv1313e1 20 15230448 15279007 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1367,essv10194 M 271 0 0 MACROD2 NA18516 esv2614095 20 15235514 15236901 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359388 S 1 0 1 MACROD2 NA18507 nsv9790 20 15249381 15252323 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26472,nssv22271,nssv27893,nssv25841,nssv25504,nssv24133,nssv22480,nssv27686,nssv27111,nssv25250,nssv25044,nssv24303,nssv26020,nssv25601 M 31 0 14 Samples from several populations that are part of the HapMap project. MACROD2 NA07029,NA12740,NA12802,NA12872,NA18504,NA18537,NA18552,NA18563,NA18564,NA18860,NA18942,NA18972,NA19007,NA19144 dgv695n67 20 15249684 15251827 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828690,nsv828689,nsv828691 M 31 0 11 MACROD2 AK12,AK14,AK16,AK2,AK4,NA18537,NA18552,NA18564,NA18942,NA18969,NA18972 esv6820 20 15249731 15251768 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29261 S 1 0 1 MACROD2 SJK dgv89n6 20 15249732 15251771 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179952,nsv178993 M 24 MACROD2 esv23109 20 15249756 15251851 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11488 S 451 0 12 MACROD2 NA06985,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12414,NA12776,NA15510,NA18916,NA19225 esv33865 20 15249910 15251158 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101609,essv98894,essv97522,essv100854,essv96767,essv101099,essv98191,essv94650,essv101320,essv94381,essv96947,essv95723,essv95437,essv95337,essv101726,essv94522,essv98980,essv92875,essv92833,essv93728,essv96652,essv97251,essv98628,essv93355,essv99677,essv92570,essv98090,essv96540,essv99148,essv100298,essv98428,essv94244 M 51 31 1 MACROD2 21603,21606,21616,21656,21659,21693,21772,21791,21805,21808,21817,21841,21847,21872,21909,21932,21938,21939,21944,21972,22011,22075,22085,22170,22217,22233,22259,22261,22275,22300,22352,22394 nsv3302 20 15250167 15272114 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9595 S 9 0 1 MACROD2 NA18507 nsv514933 20 15250235 15251742 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628346 S 1414 0 1 MACROD2 nsv817885 20 15256563 15265978 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416512 S 112 0 1 MACROD2 NA18516 esv2577005 20 15258433 15269350 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285755 S 1 0 1 MACROD2 NA18507 esv2599745 20 15258756 15269076 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359355 S 1 0 1 MACROD2 NA18507 esv2388810 20 15258762 15268773 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965169 S 1 0 1 MACROD2 NA18507 esv29353 20 15258943 15268723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15259 S 451 0 3 MACROD2 NA18511,NA19190,NA19257 nsv442778 20 15259370 15265974 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MACROD2 esv2421979 20 15259370 15266767 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5002215,essv5102225,essv5060759,essv5116746,essv5149596,essv5129211,essv5160281,essv5062520,essv5080121,essv5069972,essv5067401,essv5014853,essv5160565,essv5090981,essv5101139,essv5095714,essv5066640,essv5073552,essv5007646,essv5084895,essv5046137,essv5028755,essv5137940,essv5038797,essv5035469,essv5132951,essv5036610,essv5131540,essv5114476,essv5017393,essv5148995,essv5143042 M 1184 0 32 MACROD2 NA18500,NA18501,NA18506,NA18507,NA18509,NA18511,NA18516,NA19035,NA19101,NA19140,NA19142,NA19179,NA19190,NA19191,NA19204,NA19236,NA19257,NA19258,NA19375,NA19379,NA19380,NA19384,NA19404,NA19467,NA19712,NA19774,NA19901,NA20356,NA21370,NA21494,NA21522,NA21615 nsv514934 20 15259389 15265704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628348 S 1414 0 1 MACROD2 esv34824 20 15259400 15265218 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988128,essv6979215 M 771 0 1 MACROD2 NA18507 dgv1314e1 20 15259431 15265978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13322,essv9573 M 271 0 0 MACROD2 NA18501,NA18507 nsv517450 20 15259431 15265978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676935,nssv654571,nssv669196,nssv672183,nssv659965,nssv681378,nssv671374,nssv669939,nssv680434,nssv666517,nssv664085,nssv673606,nssv680152,nssv693815,nssv693908,nssv680044,nssv663399,nssv664038,nssv663704,nssv655755,nssv672736,nssv659271,nssv666902,nssv664921,nssv661279,nssv666350,nssv652050,nssv682884,nssv674477,nssv655406,nssv657417,nssv681334,nssv666398,nssv661071,nssv670480,nssv691654,nssv663218,nssv674982,nssv679729,nssv656859,nssv679857,nssv678097,nssv652601,nssv673309,nssv656977,nssv687176,nssv662204,nssv667346,nssv665615,nssv666439,nssv677871,nssv662930,nssv656654,nssv686163,nssv676751,nssv685297 M 2026 0 56 MACROD2 nsv817886 20 15259431 15265978 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416339,nssv1416350 M 112 0 2 MACROD2 NA19140,NA19142 essv13334 20 15259431 15271282 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MACROD2 NA18500 essv15919 20 15259431 15279007 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MACROD2 NA19205 nsv433174 20 15260796 15266767 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463055 S 9 0 1 Samples from several populations that are part of the HapMap project. MACROD2 NA18507 nsv912790 20 15265978 15300001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564008 S 6533 0 1 MACROD2 IS30143 nsv833927 20 15310602 15468185 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454966 S 95 1 0 MACROD2 nsv524714 20 15311130 15316919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700699 S 2026 0 1 MACROD2 esv2555217 20 15339318 15339794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215625 S 1 0 1 MACROD2 NA18507 esv2836 20 15383268 15383579 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25277 S 1 0 1 Single Asian sample YH MACROD2 YH nsv179072 20 15383302 15383465 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197650 M 24 MACROD2 nsv180044 20 15387285 15396937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198622 M 24 MACROD2 esv2751909 20 15437871 15604007 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988456,essv6981831,essv6985675,essv6981830 M 771 1 0 MACROD2 BEC_491 nsv518630 20 15457110 15457729 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696080 S 2026 1 0 MACROD2 esv273576 20 15461238 15461342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578989,essv2579594 M 7 2 0 Samples from several populations that are part of the HapMap project. MACROD2 NA19239,NA19240 esv271606 20 15461252 15461537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576912,essv2540186,essv2551657,essv2532193,essv2569394,essv2578655,essv2569817,essv2544777,essv2562855,essv2523607,essv2519792,essv2563824,essv2572292,essv2569150,essv2543670,essv2562264,essv2534050,essv2578190,essv2575346,essv2526564,essv2574930,essv2572794,essv2560419,essv2571131,essv2548912 M 157 25 0 Samples from several populations that are part of the HapMap project. MACROD2 NA07037,NA12154,NA18489,NA18504,NA18505,NA18508,NA18510,NA18520,NA18526,NA18532,NA18537,NA18566,NA18603,NA18609,NA18861,NA18870,NA18909,NA18916,NA18940,NA19102,NA19114,NA19138,NA19143,NA19190,NA19238 nsv458933 20 15497323 15509894 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535787 S 1557 0 1 MACROD2 NINDS_35 esv259594 20 15507123 15507379 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394226 S 6 0 0 Samples from several populations that are part of the HapMap project. MACROD2 NA12878 esv1000354 20 15507284 15507284 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578804 S 3 1 0 MACROD2 HuRef esv1265514 20 15507285 15507285 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788361 S 2 1 0 MACROD2 HuRef nsv833928 20 15567962 15728758 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454968,nssv1454967 M 95 1 1 MACROD2 nsv3303 20 15604109 15648969 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7658 S 9 0 1 MACROD2 NA12156 esv3444 20 15614354 15614957 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25885 S 1 0 1 Single Asian sample YH MACROD2 YH nsv912791 20 15650037 15707361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532697 S 6533 0 1 MACROD2 MS10802 esv24882 20 15657506 15660363 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17888,esv19943 M 451 10 0 MACROD2 NA12414,NA18502,NA18508,NA18858,NA18907,NA18909,NA18916,NA19108,NA19114,NA19147 nsv511625 20 15659185 15662348 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626258 S 1 0 1 MACROD2 1 esv2448918 20 15659194 15661156 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207905 S 1 0 1 MACROD2 NA18507 nsv512605 20 15659467 15660943 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625217 S 1 0 1 MACROD2 1 nsv820834 20 15659562 15660363 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420085 S 1 0 1 MACROD2 NA10851 nsv912792 20 15672399 15697292 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548346 S 6533 1 0 MACROD2 MS17808 nsv458934 20 15686086 15720582 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535788 S 1557 0 1 MACROD2 1780862459_A nsv519883 20 15686086 15765106 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694352 S 2026 1 0 MACROD2 nsv524386 20 15707361 15708969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700303 S 2026 0 1 MACROD2 nsv912793 20 15708969 15755441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536604 S 6533 0 1 MACROD2 MS12860 nsv833929 20 15713372 15925337 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454969,nssv1454971,nssv1454972,nssv1454970 M 95 4 0 MACROD2 nsv458935 20 15744658 15764595 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535789 S 1557 0 1 MACROD2 1780862001_A nsv524409 20 15755441 15756444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700331 S 2026 0 1 MACROD2 nsv518011 20 15761644 15765106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695423 S 2026 0 1 MACROD2 nsv518914 20 15763316 15764595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696374 S 2026 0 1 MACROD2 nsv510484 20 15796930 15802930 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622314,nssv618455,nssv621497,nssv624243 M 4 0 4 MACROD2 CHM,NA10860,NA15510,NA18994 nsv3304 20 15855834 15890697 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4524 S 9 1 0 MACROD2 NA12878 esv267882 20 15977357 15977554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496603,essv2501427,essv2507027,essv2501773,essv2498064 M 157 5 0 Samples from several populations that are part of the HapMap project. MACROD2 NA18486,NA19093,NA19102,NA19239,NA19240 esv273495 20 15977370 15977698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584659,essv2583639 M 7 2 0 Samples from several populations that are part of the HapMap project. MACROD2 NA19239,NA19240 nsv520909 20 16026767 16035405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692688,nssv700629,nssv677377 M 2026 0 3 "" dgv696n67 20 16026779 16032992 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828693,nsv828692 M 31 0 4 "" AK10,AK18,NA18564,NA18969 esv273477 20 16041292 16041536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584739,essv2583509 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv833930 20 16082347 16250763 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454991,nssv1454975,nssv1454980,nssv1454987,nssv1454984,nssv1454992,nssv1454993,nssv1454989,nssv1454988,nssv1454994,nssv1454990,nssv1454974,nssv1454986,nssv1454979,nssv1454985,nssv1454978,nssv1454983,nssv1454982,nssv1454973,nssv1454981,nssv1454977,nssv1454976 M 95 22 0 KIF16B esv268065 20 16096346 16096485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511232,essv2502292,essv2508334,essv2494586,essv2495088 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11931,NA12004,NA12749,NA18550 nsv178798 20 16153033 16162680 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197376 M 24 "" nsv3305 20 16167638 16201201 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5868 S 9 1 0 KIF16B NA19129 esv270335 20 16176627 16176951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571791,essv2523050,essv2570637,essv2548220,essv2550582,essv2547478,essv2558457,essv2577976,essv2554831,essv2558745,essv2538232,essv2561192,essv2539835,essv2521924,essv2528779,essv2567337,essv2541800,essv2559196,essv2568959,essv2578405,essv2573247,essv2555776,essv2573817,essv2556090,essv2531375,essv2576992,essv2525640,essv2526376,essv2572685,essv2568823,essv2545176,essv2549902,essv2535979,essv2537728,essv2549098,essv2554582,essv2524916 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA11840,NA11931,NA12044,NA12045,NA12155,NA12717,NA12750,NA12761,NA12872,NA18516,NA18547,NA18562,NA18563,NA18571,NA18579,NA18582,NA18592,NA18638,NA18861,NA18940,NA18942,NA18945,NA18951,NA18956,NA18961,NA18970,NA18980,NA19114,NA19143,NA19147,NA19172,NA19225 dgv244n21 20 16184837 16196453 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519621,nsv516591 M 2026 0 4 "" esv1007529 20 16186479 16187796 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587242 S 3 0 1 "" HuRef nsv513538 20 16186817 16187266 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625954 S 1 1 0 "" 1 esv1318183 20 16187084 16187161 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791452 S 2 0 1 "" HuRef esv21975 20 16188175 16188835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14691 S 451 0 1 "" NA19240 esv1020763 20 16188568 16188568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702420 S 2 1 0 "" HuRef nsv523556 20 16214622 16219850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699335 S 2026 0 1 KIF16B nsv179537 20 16217144 16217538 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198115 M 24 KIF16B esv1729054 20 16217530 16217530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873463 S 2 1 0 KIF16B HuRef nsv833931 20 16256276 16408596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454996,nssv1454995 M 95 0 2 KIF16B esv28081 20 16322155 16325056 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20687,esv12610 M 451 2 0 KIF16B NA06985,NA12044 nsv179502 20 16338626 16338626 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198080 M 24 KIF16B esv2286171 20 16429751 16430186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590436 S 1 0 1 KIF16B NA18507 esv2825 20 16429828 16430050 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25266 S 1 0 1 Single Asian sample YH KIF16B YH nsv180138 20 16429942 16430019 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198716 M 24 KIF16B nsv517032 20 16508990 16533314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670481,nssv693909,nssv661327,nssv690867,nssv674685,nssv662021,nssv685963,nssv657279,nssv664734,nssv682295,nssv680713,nssv659300,nssv665632,nssv676486,nssv670612,nssv688771,nssv653647,nssv685818,nssv665873 M 2026 0 19 "" esv28772 20 16514460 16534787 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16895 S 451 0 1 "" NA18909 nsv438309 20 16515202 16533314 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470770,nssv470771 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19102,NA19103 nsv817887 20 16515202 16533314 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416814 S 112 0 1 "" NA19159 esv2421920 20 16515202 16534634 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5045437,essv5130071,essv5024514,essv5132187,essv5095639,essv5053560,essv5099949,essv5047480,essv5138891,essv5111571,essv5087949,essv5094049,essv5017016,essv5078280 M 1184 0 14 "" NA18909,NA18911,NA19102,NA19103,NA19118,NA19159,NA19198,NA19346,NA19352,NA19360,NA19399,NA20300,NA20349,NA21616 nsv470542 20 16515202 16536308 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547362,nssv547369,nssv547364,nssv547366,nssv547363,nssv547361,nssv547365,nssv547367 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00576,HGDP00904,HGDP00912,HGDP00919,HGDP00920,HGDP00921,HGDP00934,HGDP00942 dgv508n27 20 16515202 16537003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458937,nsv458941,nsv458939,nsv458942,nsv458936,nsv458938 M 1557 0 6 "" HGDP00576,HGDP00904,HGDP00912,HGDP00920,HGDP00934,HGDP00942 nsv442482 20 16516058 16534634 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514935 20 16519383 16534590 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628349 S 1414 0 1 "" nsv525956 20 16541159 16549519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702165 S 2026 0 1 "" esv1002221 20 16563972 16568221 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565023 S 3 0 1 "" HuRef dgv90n6 20 16679075 16687983 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv178619,nsv180007 M 24 OTOR nsv3306 20 16681097 16725728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4659 S 9 0 1 "" NA19129 nsv524661 20 16688597 16696566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700630 S 2026 0 1 "" nsv828694 20 16692817 16696167 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423055 S 31 0 1 "" NA18552 esv34134 20 16758754 16984185 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv522930 20 16770692 16779893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698593 S 2026 0 1 "" esv2429748 20 16778494 16779459 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238251 S 1 1 0 "" NA18507 esv268125 20 16778769 16779107 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514612,essv2517528,essv2514865,essv2514921,essv2516363,essv2515766,essv2518170,essv2515907,essv2517875,essv2516285,essv2516903,essv2515830,essv2513807,essv2515196,essv2518885,essv2518213 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA12234,NA12812,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18969,NA19143,NA19238,NA19239,NA19240 esv273976 20 16778774 16779102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582127,essv2582557,essv2583097,essv2584183,essv2584635,essv2583722 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 dgv4554n71 20 16848098 17158565 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912795,nsv912794 M 6533 2 0 PCSK2 MS14210,SP55795 esv1479898 20 17009939 17010025 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908792 S 2 0 1 "" HuRef dgv91n6 20 17009945 17010026 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179155,nsv178899,nsv180562 M 24 "" nsv527344 20 17020043 17043210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703770 S 2026 0 1 "" nsv3307 20 17037582 17082051 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2329 S 9 0 1 "" NA18555 esv2593974 20 17051117 17052684 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309057 S 1 0 1 "" NA18507 esv2169250 20 17051258 17051994 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980612 S 1 0 1 "" NA18507 esv5595 20 17051451 17051791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28036 S 1 0 1 "" SJK esv1114521 20 17051451 17051798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131883 S 2 0 1 "" HuRef esv9048 20 17126690 17126740 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31489 S 1 1 0 "" SJK nsv179945 20 17196709 17203742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198523 M 24 PCSK2 dgv4555n71 20 17197788 17453226 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912796,nsv912797 M 6533 2 0 BFSP1,PCSK2 MS14210,SP55795 nsv912798 20 17210999 17259577 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578546 S 6533 1 0 PCSK2 IS34804 dgv21e197 20 17264100 17264508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2623311,esv2425675 M 1 0 1 PCSK2 NA18507 dgv1315e1 20 17305806 17338095 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13490,esv1283,essv14229 M 271 0 0 PCSK2 NA18913,NA18914 nsv3308 20 17330134 17363469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5869 S 9 1 0 PCSK2 NA19129 nsv517986 20 17358843 17370063 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695398 S 2026 0 1 PCSK2 nsv520899 20 17370063 17371111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686875,nssv677243 M 2026 0 2 PCSK2 nsv3309 20 17389458 17398084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4525 S 9 1 0 PCSK2 NA12878 esv1992600 20 17396515 17396949 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963145 S 1 0 1 PCSK2 NA18507 esv3535 20 17396584 17397105 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25976 S 1 0 1 Single Asian sample YH PCSK2 YH esv29435 20 17437862 17439604 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18341 S 451 3 0 BFSP1 NA12749,NA19114,NA19225 nsv510781 20 17472461 17527376 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619007 S 4 0 1 BFSP1,DSTN NA10860 nsv179788 20 17482441 17482524 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198366 M 24 BFSP1 nsv520496 20 17485312 17505717 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675175,nssv671871 M 2026 2 0 BFSP1,DSTN dgv4556n71 20 17520757 17577162 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912799,nsv912800 M 6533 0 2 DSTN,RRBP1 MS10311,MS18276 nsv3311 20 17523306 17555900 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4526 S 9 1 0 DSTN,RRBP1 NA12878 nsv458943 20 17538673 17559399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535797 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RRBP1 HGDP00515 esv23450 20 17539243 17586565 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11176 S 451 2 0 RRBP1 NA12239,NA18858 nsv519542 20 17539579 17577162 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672595,nssv661150,nssv656786,nssv680974,nssv694015,nssv679781,nssv660439 M 2026 0 7 RRBP1 dgv4557n71 20 17541315 17577162 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912801,nsv912802 M 6533 0 2 RRBP1 MS17208,SP50159 nsv527274 20 17566824 17579573 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703684 S 2026 0 1 RRBP1 nsv828695 20 17587336 17588538 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422302,nssv1431750,nssv1430266 M 31 3 0 RRBP1 AK14,AK18,NA18997 esv1521395 20 17587892 17587892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240195 S 2 1 0 RRBP1 HuRef nsv180652 20 17587974 17588033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199230 M 24 RRBP1 dgv4558n71 20 17704728 17886732 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912805,nsv912803 M 6533 2 0 SNX5 SP56185,SP57226 esv23199 20 17710850 17716188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11210 S 451 0 2 "" NA11993,NA19129 nsv912804 20 17719113 17816983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525783 S 6533 1 0 "" SP56807 nsv833932 20 17732021 17888562 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454997 S 95 1 0 SNX5 nsv912806 20 17762844 17862943 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520832 S 6533 1 0 "" SP51261 esv2646042 20 17773293 17774732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374635 S 1 0 1 "" NA18507 esv2387310 20 17773870 17774237 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989229 S 1 0 1 "" NA18507 esv259691 20 17776989 17777385 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397785,essv2397454 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18520 nsv3312 20 17795120 17825901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5870,nssv1590,nssv6935 M 9 3 0 "" NA12156,NA19129,NA19240 nsv179089 20 17822918 17823580 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197667 M 24 "" esv2062554 20 17834865 17835292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676667 S 1 0 1 "" NA18507 nsv912807 20 17840867 17950954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531001 S 6533 0 1 C20orf72,SNORD17,SNX5 MS10311 nsv458944 20 17848087 17954706 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535798 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf72,OVOL2,SNORD17,SNX5 HGDP01365 nsv470543 20 17862943 17954706 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547370 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf72,OVOL2,SNORD17,SNX5 HGDP01365 nsv912808 20 17886732 17950954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532535 S 6533 0 1 C20orf72,SNORD17,SNX5 MS10769 nsv458945 20 17934058 17967274 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535799 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OVOL2 HGDP00072 nsv179918 20 17937348 17944918 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198496 M 24 "" nsv820354 20 17950517 17952081 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420086 S 1 1 0 "" NA10851 nsv828696 20 17950517 17952081 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423882,nssv1431026 M 31 0 2 "" AK16,NA18999 nsv833933 20 17958043 18135246 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454998 S 95 1 0 CSRP2BP,OVOL2,PET117 nsv912809 20 17978357 18068761 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525784 S 6533 1 0 OVOL2,PET117 SP56807 esv1642664 20 18040875 18041001 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711927 S 2 0 1 "" HuRef esv23427 20 18136927 18139750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19072 S 451 0 6 "" NA11931,NA12287,NA12828,NA15510,NA19099,NA19257 esv1272189 20 18138180 18138761 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268378 S 2 0 1 "" HuRef nsv179244 20 18138760 18139335 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197822 M 24 "" esv270871 20 18170082 18170167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518968 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv2481353 20 18188696 18191068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210121 S 1 0 1 "" NA18507 dgv1316e1 20 18197877 18221632 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1011,essv7953 M 271 0 0 ZNF133 NA19203 esv2751911 20 18197877 18244500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983597,essv6983598 M 771 1 0 ZNF133 BEC_671 dgv92n6 20 18206043 18207463 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv180371,nsv179595 M 24 "" nsv509763 20 18227668 18312108 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621123 S 4 1 0 C20orf12,MGC44328,ZNF133 NA15510 nsv510485 20 18246162 18252162 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618456,nssv624244,nssv622315 M 4 0 3 "" CHM,NA10860,NA18994 esv1003068 20 18277421 18287399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563884 S 3 0 1 "" HuRef nsv3313 20 18315321 18345677 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5873 S 9 1 0 C20orf12 NA19129 nsv523362 20 18328775 18362356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699111 S 2026 0 1 C20orf12 esv6745 20 18348683 18348759 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29186 S 1 1 0 C20orf12 SJK esv1012048 20 18414813 18414863 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308767 S 2 0 1 "" HuRef nsv178568 20 18552552 18555227 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197146 M 24 DTD1 esv2468883 20 18604026 18604906 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363647 S 1 1 0 DTD1 NA18507 esv1476050 20 18604521 18604521 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922664 S 2 1 0 DTD1 HuRef esv1401622 20 18618559 18618559 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653775 S 2 1 0 DTD1 HuRef esv1522771 20 18636814 18636864 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364618 S 2 0 1 DTD1 HuRef esv1653693 20 18636888 18636888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176438 S 2 1 0 DTD1 HuRef nsv178936 20 18672333 18682251 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197514 M 24 DTD1 esv2594549 20 18704647 18706243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286081 S 1 0 1 "" NA18507 esv1518899 20 18705272 18705498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660927 S 2 0 1 "" HuRef nsv833934 20 18706890 18886721 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1454999 S 95 0 1 C20orf79,HSPC072,LOC100128496,LOC100270804 nsv833935 20 18824812 19024908 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455000 S 95 1 0 "" esv2513063 20 18925767 18927290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318238 S 1 0 1 "" NA18507 esv2022278 20 18925942 18927055 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527104 S 1 0 1 "" NA18507 nsv180157 20 18931907 18931988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198735 M 24 "" esv2114728 20 19009221 19009910 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541194 S 1 0 1 "" NA18507 nsv179057 20 19009431 19009743 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197635 M 24 "" esv6062 20 19009434 19009741 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28503 S 1 0 1 "" SJK nsv518843 20 19047035 19049697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696297 S 2026 0 1 "" nsv912810 20 19047085 19096942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502879 S 6533 0 1 "" SP51439 nsv3314 20 19057012 19090705 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7659 S 9 1 0 "" NA12156 esv2294767 20 19083345 19083702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656744 S 1 0 1 "" NA18507 nsv458946 20 19096942 19110559 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535800 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00472 nsv520194 20 19100612 19110559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697273 S 2026 0 1 "" esv271150 20 19128839 19129172 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518977 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv833937 20 19278801 19473952 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455002,nssv1455001 M 95 2 0 SLC24A3 nsv912811 20 19313396 19417150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583438 S 6533 0 1 SLC24A3 IS36475 nsv3315 20 19330701 19341421 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7660 S 9 0 1 SLC24A3 NA12156 esv273939 20 19395313 19395668 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579157 S 7 1 0 Samples from several populations that are part of the HapMap project. SLC24A3 NA19239 esv267761 20 19395326 19395656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578794,essv2550007,essv2537123,essv2566941,essv2575257,essv2572615,essv2545038,essv2560234,essv2571495,essv2574427 M 157 10 0 Samples from several populations that are part of the HapMap project. SLC24A3 NA18510,NA18511,NA18517,NA18853,NA19102,NA19143,NA19172,NA19190,NA19238,NA19240 nsv527125 20 19407328 19424765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703510 S 2026 0 1 SLC24A3 nsv833938 20 19446369 19612390 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455003 S 95 0 1 SLC24A3 nsv3316 20 19519841 19553812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3060 S 9 1 0 SLC24A3 NA18555 esv2652551 20 19591403 19592367 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280578 S 1 1 0 SLC24A3 NA18507 nsv3317 20 19612139 19645922 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5874 S 9 1 0 SLC24A3 NA19129 nsv179505 20 19693588 19697566 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198083 M 24 "" nsv833939 20 19743950 19912356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455004 S 95 1 0 RIN2 nsv817888 20 19814572 19822222 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416985,nssv1416986 M 112 2 0 RIN2 NA19138,NA19139 nsv3318 20 19823138 19856945 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5875 S 9 1 0 RIN2 NA19129 esv27878 20 19852678 19853324 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19341 S 451 7 0 RIN2 NA07045,NA12004,NA12287,NA12414,NA19129,NA19147,NA19225 nsv179259 20 19856801 19866731 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197837 M 24 RIN2 nsv3319 20 19893440 19939210 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6936 S 9 0 1 RIN2 NA12156 nsv180590 20 19930033 19932237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199168 M 24 RIN2 nsv179610 20 19960662 19961103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198188 M 24 NAA20 nsv819555 20 19971973 19973997 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419368 S 2 0 1 CRNKL1 AK1 nsv525682 20 19978870 19981319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701840 S 2026 0 1 C20orf26,CRNKL1 nsv3320 20 19979859 20012166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10286 S 9 1 0 C20orf26,CRNKL1 NA18956 nsv517467 20 19980998 19983297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693939,nssv689179,nssv652346,nssv674983,nssv665497,nssv652102 M 2026 0 6 C20orf26,CRNKL1 nsv3322 20 19992095 20036803 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7661 S 9 0 1 C20orf26 NA12156 nsv525824 20 19996865 19999890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702013 S 2026 0 1 C20orf26 esv275044 20 20026767 20030067 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585381 S 1250 0 1 C20orf26 esv273936 20 20043911 20044102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580594 S 7 1 0 Samples from several populations that are part of the HapMap project. C20orf26 NA19238 esv267973 20 20043919 20044021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544185,essv2548555,essv2525211,essv2577833,essv2537321,essv2546917,essv2521015,essv2527982,essv2526379,essv2530252,essv2554406 M 157 11 0 Samples from several populations that are part of the HapMap project. C20orf26 NA07346,NA11992,NA12045,NA12156,NA12761,NA12878,NA12892,NA18498,NA18907,NA19114,NA19141 nsv828699 20 20201554 20203416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432574 S 31 0 1 C20orf26 AK20 esv1752400 20 20224788 20224788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738119 S 2 1 0 C20orf26 HuRef esv23332 20 20283284 20287330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13336 S 451 0 13 C20orf26 NA11894,NA11993,NA11995,NA12156,NA12749,NA12828,NA12878,NA18508,NA18909,NA18916,NA19108,NA19129,NA19240 esv2009660 20 20284569 20285296 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721155 S 1 0 1 C20orf26 NA18507 esv1197515 20 20286078 20286078 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069952 S 2 1 0 C20orf26 HuRef nsv912812 20 20316299 20355354 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527679 S 6533 1 0 RALGAPA2 SP80931 nsv180272 20 20387513 20387513 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198850 M 24 RALGAPA2 nsv3323 20 20413991 20447553 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3061 S 9 1 0 RALGAPA2 NA18555 nsv828700 20 20456426 20457268 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423883 S 31 0 1 RALGAPA2 NA18999 esv2452960 20 20479330 20480889 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274591 S 1 0 1 RALGAPA2 NA18507 nsv436316 20 20606757 20613598 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465705 S 2 0 1 Samples from several populations that are part of the HapMap project. RALGAPA2 NA18505 nsv3324 20 20693607 20728204 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3062 S 9 1 0 "" NA18555 nsv521753 20 20809464 20812490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694519 S 2026 0 1 "" esv1008855 20 20855872 20856954 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563761 S 3 1 0 "" HuRef nsv523522 20 20925792 20933138 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699295 S 2026 1 0 "" nsv178665 20 20934406 20934406 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197243 M 24 "" nsv180189 20 20974695 20974695 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198767 M 24 "" esv26527 20 20974702 20975304 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11277 S 451 1 0 "" NA12749 nsv833940 20 20984416 21147266 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455005 S 95 1 0 PLK1S1 nsv3325 20 21014147 21047805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7662 S 9 1 0 "" NA12156 esv1749029 20 21048967 21049083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949531 S 2 0 1 "" HuRef esv1347897 20 21050362 21050362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142887 S 2 1 0 "" HuRef nsv3326 20 21055390 21058605 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10287 S 9 1 0 PLK1S1 NA18956 esv29181 20 21070268 21071962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12273 S 451 0 1 PLK1S1 NA19257 esv259481 20 21138134 21138579 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394109,essv2393926,essv2393987,essv2394374 M 6 0 0 Samples from several populations that are part of the HapMap project. PLK1S1 NA12878,NA12891,NA19239,NA19240 esv259926 20 21138140 21138589 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396751,essv2400194,essv2400039,essv2400324,essv2395272,essv2396550,essv2399834,essv2396019,essv2395754,essv2396258,essv2400291,essv2396812,essv2399379,essv2396291,essv2400766,essv2399597,essv2398273,essv2399177,essv2399729,essv2397297,essv2401075,essv2397604,essv2395235,essv2395598,essv2397694,essv2397784,essv2396587,essv2399230,essv2395000,essv2398558,essv2396467,essv2395032,essv2396113,essv2395725,essv2396064,essv2394951,essv2395103,essv2400370,essv2396306,essv2399883,essv2398529,essv2395508,essv2397195,essv2395555,essv2399126,essv2395742,essv2399443,essv2394650,essv2397904,essv2398221,essv2400668,essv2395312,essv2400008,essv2394916,essv2396169,essv2395425,essv2397119,essv2400829,essv2395121,essv2394541,essv2395825,essv2399635,essv2394599,essv2398738,essv2398319,essv2400996,essv2399303,essv2395227,essv2394859,essv2399772,essv2399536,essv2396342,essv2398016,essv2398689,essv2399669,essv2397038,essv2400478,essv2394480 M 144 0 0 Samples from several populations that are part of the HapMap project. PLK1S1 NA07000,NA07037,NA07051,NA11881,NA11918,NA11919,NA11994,NA12003,NA12004,NA12006,NA12154,NA12155,NA12287,NA12716,NA12717,NA12761,NA12763,NA12776,NA12828,NA12878,NA12891,NA18489,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18523,NA18532,NA18537,NA18545,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18572,NA18593,NA18609,NA18853,NA18858,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18948,NA18951,NA18952,NA18953,NA18959,NA18961,NA18964,NA18965,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19190,NA19210,NA19239,NA19240,NA19257 nsv828701 20 21138186 21138647 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431027 S 31 1 0 PLK1S1 AK16 nsv912813 20 21166023 21323826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539746 S 6533 0 1 PLK1S1,XRN2 MS14485 nsv179410 20 21210406 21212826 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197988 M 24 "" esv1007546 20 21230743 21236822 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565366 S 3 0 1 XRN2 HuRef esv2458583 20 21233447 21237429 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325940 S 1 0 1 XRN2 NA18507 esv2579624 20 21233519 21237063 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210101 S 1 0 1 XRN2 NA18507 nsv820835 20 21233871 21236529 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420087 S 1 0 1 XRN2 NA10851 esv2276285 20 21233926 21236975 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536489 S 1 0 1 XRN2 NA18507 nsv512606 20 21233990 21236794 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625218 S 1 0 1 XRN2 1 esv7933 20 21234125 21236793 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30374 S 1 0 1 XRN2 SJK esv1596170 20 21234127 21236809 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641045 S 2 0 1 XRN2 HuRef esv22449 20 21234267 21236529 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16475 S 451 28 0 XRN2 NA06985,NA07037,NA07045,NA11931,NA12004,NA12044,NA12156,NA12239,NA12287,NA12489,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19225,NA19240 nsv514936 20 21235302 21236072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628350 S 1414 0 1 XRN2 nsv179550 20 21305917 21306199 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198128 M 24 XRN2 nsv833941 20 21322304 21504861 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455006 S 95 1 0 NKX2-2,NKX2-4 nsv828702 20 21324355 21326087 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430267 S 31 1 0 NKX2-4 AK14 nsv180353 20 21502213 21502213 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198931 M 24 "" nsv3327 20 21529725 21562181 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7663 S 9 0 1 "" NA12156 nsv3328 20 21578500 21613691 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1592 S 9 1 0 "" NA19240 nsv828703 20 21633861 21634322 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426294 S 31 1 0 PAX1 AK4 nsv179191 20 21649993 21649993 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197769 M 24 "" nsv179254 20 21650250 21650250 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197832 M 24 "" esv1438027 20 21650302 21650302 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007347 S 2 1 0 "" HuRef nsv912814 20 21651615 21894928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558725 S 6533 0 1 "" MS23495 nsv180146 20 21709548 21709808 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198724 M 24 "" esv268777 20 21716633 21716718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516411 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv3329 20 21733008 21746599 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2330 S 9 1 0 "" NA18555 nsv3330 20 21749674 21782084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10288 S 9 1 0 "" NA18956 esv2573409 20 21797388 21798930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351518 S 1 0 1 "" NA18507 esv2122227 20 21797717 21798377 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803158 S 1 0 1 "" NA18507 esv2820 20 21797853 21798275 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25261 S 1 0 1 Single Asian sample YH "" YH esv2456942 20 21797903 21798189 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199376 S 1 0 1 "" NA18507 esv994774 20 21797903 21798189 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566991 S 3 0 1 "" HuRef dgv93n6 20 21797903 21798190 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179469,nsv179603 M 24 "" esv1676896 20 21797903 21798190 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890417 S 2 0 1 "" HuRef esv7978 20 21797907 21798165 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30419 S 1 0 1 "" SJK nsv912815 20 21832693 21901649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601133 S 6533 0 1 "" IS41971 esv2643731 20 22009213 22012768 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293676 S 1 0 1 "" NA18507 esv2129554 20 22011015 22011408 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721687 S 1 0 1 "" NA18507 nsv179427 20 22011652 22011811 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198005 M 24 "" esv1436927 20 22045667 22045722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117291 S 2 0 1 "" HuRef nsv828704 20 22149916 22150702 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426295 S 31 1 0 "" AK4 nsv833942 20 22231122 22388749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455008,nssv1455007 M 95 2 0 LOC284788 nsv3331 20 22234070 22266816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6937 S 9 1 0 "" NA12156 nsv437838 20 22271038 22305152 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467719 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv9792 20 22272471 22278867 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25022,nssv26126 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19173 nsv517646 20 22273574 22275414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661718,nssv680375,nssv670482,nssv652661,nssv655151,nssv699075 M 2026 0 6 "" nsv817889 20 22273574 22275414 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417953,nssv1416815,nssv1416615,nssv1416617,nssv1416816,nssv1417952 M 112 0 6 "" NA18853,NA18854,NA19160,NA19161,NA19172,NA19173 esv2468053 20 22284350 22285846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367488 S 1 0 1 "" NA18507 nsv3333 20 22430098 22455587 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9864 S 9 1 0 "" NA18507 nsv178746 20 22434165 22434248 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197324 M 24 "" esv23625 20 22490235 22491685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10848 S 451 0 1 LINC00261 NA19129 esv269899 20 22547654 22547739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514786 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 esv4739 20 22554122 22554741 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27180 S 1 0 1 Single Asian sample YH "" YH nsv833943 20 22605016 22651454 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455021,nssv1455009,nssv1455012,nssv1455014,nssv1455013,nssv1455015,nssv1455016,nssv1455018,nssv1455017,nssv1455019,nssv1455020,nssv1455010,nssv1455011 M 95 13 0 "" nsv178857 20 22641441 22648741 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197435 M 24 "" esv1004772 20 22653759 22653759 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567032 S 3 1 0 "" HuRef esv1724334 20 22653760 22653760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285200 S 2 1 0 "" HuRef nsv528221 20 22680749 22715280 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704782 S 2026 1 0 "" nsv912816 20 22705960 23010927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535263 S 6533 1 0 CD93,SSTR4,THBD MS12103 nsv520547 20 22715280 22719404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697479 S 2026 0 1 "" nsv3334 20 22721462 22766362 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7665 S 9 0 1 "" NA12156 nsv3335 20 22738160 22773314 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1593 S 9 1 0 "" NA19240 nsv510782 20 22754573 22855739 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622797 S 4 0 1 "" NA18994 esv24178 20 22787322 22787797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10182 S 451 0 1 "" NA18858 esv1620476 20 22811403 22811403 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603462 S 2 1 0 "" HuRef nsv524981 20 22959468 22969597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701010 S 2026 0 1 SSTR4 nsv520810 20 22964970 22965082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675703,nssv676869,nssv686681 M 2026 0 3 SSTR4 nsv482065 20 22974271 22978301 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558426 S 1 1 0 THBD KB1 dgv1317e1 20 22977404 23127604 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv792,essv23961 M 271 0 0 CD93,LOC200261,THBD NA12814 nsv526474 20 23013209 23021904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702780 S 2026 0 1 CD93 esv2534208 20 23050860 23052445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309237 S 1 0 1 "" NA18507 esv1954583 20 23051148 23051782 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664565 S 1 0 1 "" NA18507 esv3844 20 23051257 23051953 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26285 S 1 0 1 Single Asian sample YH "" YH nsv912817 20 23075661 23188969 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535264 S 6533 1 0 "" MS12103 essv8907 20 23094607 23122394 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19171 nsv179251 20 23116344 23124309 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197829 M 24 "" esv24013 20 23116907 23124009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17036 S 451 0 1 "" NA19257 nsv515646 20 23117926 23122214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678731,nssv656338,nssv657418,nssv657280,nssv691912,nssv657099,nssv669381,nssv666003,nssv654477,nssv682095,nssv693062,nssv661495,nssv659719,nssv664951,nssv656284,nssv679998,nssv664232,nssv672052,nssv662534 M 2026 0 19 "" dgv1318e1 20 23118731 23127604 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13214,essv13404,essv13366 M 271 0 0 "" NA18872,NA19120,NA19159 nsv458948 20 23182699 23240849 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535801 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01157 esv1343012 20 23196675 23196675 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243192 S 2 1 0 "" HuRef esv259783 20 23243201 23243517 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399079,essv2400310,essv2401164,essv2395672,essv2395694,essv2400694,essv2400929,essv2398856,essv2398977,essv2400150,essv2395317,essv2397473,essv2400812,essv2394559,essv2396986,essv2398384,essv2401004,essv2399532,essv2398041 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11881,NA11931,NA18501,NA18532,NA18542,NA18547,NA18582,NA18603,NA18608,NA18916,NA18947,NA18952,NA18965,NA18973,NA19093,NA19099,NA19137,NA19147 nsv521751 20 23272651 23273047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694051 S 2026 0 1 "" nsv523998 20 23353281 23354519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699858 S 2026 0 1 "" dgv4559n71 20 23354519 23517400 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912818,nsv912819 M 6533 2 0 CST11,CST8,CST9L,CSTL1,CSTT MS11306,MS16315 nsv912820 20 23354519 23526148 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538551,nssv1593683,nssv1559446,nssv1540953,nssv1552010,nssv1549548,nssv1542651,nssv1540683,nssv1539110,nssv1553026 M 6533 1 9 CST11,CST8,CST9L,CSTL1,CSTT IS39490,MS13762,MS14164,MS14961,MS15097,MS15822,MS18263,MS19093,MS19700,MS23981 nsv470544 20 23372638 23517400 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547371 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CST11,CST8,CST9L,CSTL1,CSTT HGDP01273 nsv458949 20 23374648 23517400 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535802 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CST11,CST8,CST9L,CSTT HGDP01273 esv1206485 20 23489647 23489730 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751893 S 2 0 1 "" HuRef esv7185 20 23496607 23512422 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29626 S 1 0 0 CST9L SJK esv25089 20 23541820 23542562 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20263 S 451 6 0 "" NA12006,NA12749,NA18511,NA18861,NA18916,NA19257 nsv180676 20 23553435 23553502 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199254 M 24 "" esv994049 20 23553491 23553562 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577464 S 3 0 1 "" HuRef esv1249649 20 23553500 23553572 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873120 S 2 0 1 "" HuRef nsv458950 20 23590427 23669992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535803 S 1557 0 1 CST4 NINDS_73 nsv458952 20 23592387 23723819 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535805 S 1557 1 0 CST1,CST4 NINDS_265 nsv912821 20 23602318 23679412 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537000,nssv1547608 M 6533 1 1 CST1,CST4 MS13058,MS17489 nsv482066 20 23614277 23617662 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558427 S 1 1 0 CST4 KB1 esv2586815 20 23619155 23622559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364949 S 1 0 1 "" NA18507 esv1988855 20 23619796 23622383 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915165 S 1 0 1 "" NA18507 nsv518208 20 23630810 23685681 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695632 S 2026 1 0 CST1 esv33509 20 23653081 23725052 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92617 S 51 1 0 CST1 22233 nsv912822 20 23657545 23748338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582850 S 6533 0 1 CST1 IS36183 nsv458953 20 23679412 23756324 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535806 S 1557 0 1 CST1,CST2 1780854017_A nsv515880 20 23679494 23688161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666080,nssv670802,nssv665129,nssv673380,nssv693288 M 2026 0 5 CST1 esv1918155 20 23703080 23703526 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801561 S 1 0 1 "" NA18507 nsv912823 20 23704139 23795009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528505 S 6533 1 0 CST2 SP81255 nsv436326 20 23705769 23786141 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465706 S 2 0 1 Samples from several populations that are part of the HapMap project. CST2 NA18505 nsv3336 20 23752081 23796943 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5876 S 9 0 1 CST2 NA19129 nsv833944 20 23754288 23969865 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455024,nssv1455022,nssv1455023 M 95 3 0 CST2,CST5,GGTLC1 nsv522873 20 23851973 26063510 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698528 S 2026 1 0 ABHD12,ACSS1,C20orf191,C20orf3,CST7,ENTPD6,FAM182A,FAM182B,FLJ33581,GGTLC1,GINS1,LOC100134868,LOC284798,NANP,NINL,PYGB,SYNDIG1,VSX1,ZNF337 nsv9793 20 23887613 24682850 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27899,nssv26040,nssv27694 M 31 1 2 Samples from several populations that are part of the HapMap project. FLJ33581,GGTLC1,SYNDIG1 NA18537,NA18860,NA18972 esv26651 20 23903662 23942680 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16644,esv15775,esv18738 M 451 9 0 GGTLC1 NA06985,NA12004,NA12006,NA18858,NA19099,NA19114,NA19129,NA19147,NA19190 nsv820636 20 23904042 23924910 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420088 S 1 0 1 GGTLC1 NA10851 esv9281 20 23927110 23927184 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31722 S 1 1 0 "" SJK nsv3337 20 23963931 23997842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3063 S 9 1 0 "" NA18555 nsv833945 20 24111437 24297462 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455025 S 95 0 1 FLJ33581 esv2598710 20 24136830 24136883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249788 S 1 0 1 FLJ33581 NA18507 esv8025 20 24136883 24137091 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30466 S 1 0 1 FLJ33581 SJK esv23380 20 24182682 24184680 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15204 S 451 0 1 "" NA19114 nsv3338 20 24184464 24218532 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7666 S 9 1 0 "" NA12156 nsv179233 20 24197581 24198414 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197811 M 24 "" nsv833946 20 24268375 24438702 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455026 S 95 1 0 SYNDIG1 nsv3339 20 24279658 24312794 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7667 S 9 1 0 "" NA12156 esv1381362 20 24321059 24321059 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840087 S 2 1 0 "" HuRef nsv180101 20 24321079 24321079 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198679 M 24 "" esv26001 20 24336726 24337645 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15889 S 451 0 7 "" NA12878,NA18505,NA18511,NA18517,NA19129,NA19147,NA19240 nsv821179 20 24336726 24337645 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420089 S 1 0 1 "" NA10851 esv1680252 20 24337078 24337354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692807 S 2 0 1 "" HuRef nsv515713 20 24358195 24373987 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661108,nssv662380,nssv670917,nssv664507,nssv668815 M 2026 3 2 "" nsv458954 20 24358195 24379225 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535807 S 1557 1 0 "" 1782681114_A esv25964 20 24359076 24360891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17608 S 451 0 1 "" NA11993 esv2510671 20 24359254 24360162 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214988 S 1 1 0 "" NA18507 esv1009247 20 24359777 24360973 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586994 S 3 0 1 "" HuRef esv1358757 20 24359999 24359999 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353405 S 2 1 0 "" HuRef nsv442483 20 24366791 24372700 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2314547 20 24375741 24376191 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669789 S 1 0 1 "" NA18507 nsv178771 20 24440791 24446267 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197349 M 24 SYNDIG1 esv2540968 20 24458401 24459038 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294428 S 1 1 0 SYNDIG1 NA18507 nsv513540 20 24458636 24458863 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625956 S 1 1 0 SYNDIG1 1 esv1529124 20 24458665 24458665 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731431 S 2 1 0 SYNDIG1 HuRef nsv179076 20 24490767 24490846 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197654 M 24 SYNDIG1 esv990034 20 24510298 24511174 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586871 S 3 0 1 SYNDIG1 HuRef nsv912824 20 24560808 24587916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517669 S 6533 1 0 SYNDIG1 SP57341 nsv524920 20 24587916 24631554 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700932 S 2026 1 0 SYNDIG1 esv2651577 20 24589712 24590582 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264026 S 1 1 0 SYNDIG1 NA18507 esv1002049 20 24610678 24610678 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573917 S 3 1 0 "" HuRef esv996079 20 24610731 24610788 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578187 S 3 0 1 "" HuRef esv1004031 20 24610735 24610735 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579210 S 3 1 0 "" HuRef esv1789945 20 24610735 24610793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3898956 S 2 0 1 "" HuRef nsv523138 20 24631554 24634375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698843 S 2026 0 1 "" dgv697n67 20 24653746 24658967 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828706,nsv828705 M 31 0 3 "" AK16,NA18949,NA18999 nsv828707 20 24656186 24658967 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427177 S 31 0 1 "" AK6 nsv912825 20 24663544 24761345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543817 S 6533 0 1 "" MS16153 esv22921 20 24706946 24707790 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20575 S 451 0 1 "" NA11995 esv2650078 20 24764637 24765019 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255466 S 1 1 0 "" NA18507 nsv179724 20 24821665 24821729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198302 M 24 "" nsv178953 20 24821719 24821783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197531 M 24 "" nsv507906 20 24828298 24834298 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620687,nssv623304,nssv619272 M 4 3 0 "" NA10860,NA15510,NA18994 nsv510783 20 24837192 24889933 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617442 S 4 0 1 CST7 CHM nsv518411 20 24845355 24846856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695843 S 2026 0 1 "" nsv524921 20 24845355 24880028 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700933 S 2026 1 0 CST7 esv1006547 20 24848616 24857178 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563839 S 3 0 1 "" HuRef esv1588540 20 24851699 24852417 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219539 S 2 0 1 "" HuRef esv1703823 20 24885707 24885707 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964570 S 2 1 0 CST7 HuRef esv2629879 20 24903256 24904508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315103 S 1 0 1 C20orf3 NA18507 nsv510486 20 24909202 24915202 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622316,nssv624245,nssv621498 M 4 0 3 C20orf3 NA10860,NA15510,NA18994 esv2133962 20 24910728 24911138 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595125 S 1 0 1 C20orf3 NA18507 esv989269 20 24910891 24910947 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574597 S 3 0 1 C20orf3 HuRef nsv912826 20 24935787 25019454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586098 S 6533 0 1 ACSS1,VSX1 IS37646 nsv513541 20 24995003 24995784 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625957 S 1 1 0 "" 1 esv2449793 20 24995266 24996105 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331255 S 1 1 0 "" NA18507 esv1371676 20 24995778 24995778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306461 S 2 1 0 "" HuRef nsv179079 20 25058876 25058950 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197657 M 24 "" esv998464 20 25058883 25058957 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578725 S 3 0 1 "" HuRef esv1011218 20 25058913 25058987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570245 S 3 0 1 "" HuRef nsv3340 20 25108137 25138540 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7668 S 9 0 1 ENTPD6 NA12156 esv1002059 20 25112737 25123153 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564556 S 3 0 1 "" HuRef esv2020215 20 25146453 25146788 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939121 S 1 0 1 ENTPD6 NA18507 nsv828708 20 25171895 25179601 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427178 S 31 1 0 PYGB AK6 esv1468878 20 25176666 25176666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090096 S 2 1 0 "" HuRef nsv833948 20 25179726 25358540 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455027 S 95 0 1 ABHD12,GINS1,PYGB nsv912827 20 25219326 25236632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509387 S 6533 0 1 ABHD12,PYGB SP54782 dgv4560n71 20 25381015 25543868 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912830,nsv912829,nsv912828,nsv912831 M 6533 6 0 NANP,NINL MS11760,MS12109,MS14544,MS14679,MS17878,MS24678 nsv178907 20 25397119 25397887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197485 M 24 NINL nsv3341 20 25470665 25480427 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1594 S 9 1 0 NINL NA19240 nsv499328 20 25472547 25472728 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586369 S 9 1 0 NINL dgv4561n71 20 25475984 25543175 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912832,nsv912833 M 6533 3 0 NANP,NINL MS13219,MS15117,MS16656 esv29455 20 25477198 25478408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18920 S 451 0 1 NINL NA11993 nsv513542 20 25529767 25530332 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625958 S 1 1 0 "" 1 esv991632 20 25530030 25530542 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586971 S 3 0 1 "" HuRef esv2507810 20 25530154 25530516 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321094 S 1 1 0 "" NA18507 esv4551 20 25531035 25531732 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26992 S 1 0 1 Single Asian sample YH "" YH esv28743 20 25531081 25531726 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14268 S 451 0 1 "" NA11995 nsv3342 20 25541853 25575433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1595 S 9 1 0 NANP NA19240 nsv912834 20 25563272 25704336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589515 S 6533 1 0 FAM182B,ZNF337 IS38378 esv8845 20 25622234 25622293 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31286 S 1 1 0 ZNF337 SJK nsv525033 20 25636001 25678968 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701075 S 2026 1 0 "" esv24785 20 25646651 25655971 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17092 S 451 1 0 "" NA11993 dgv1319e1 20 25649992 26015566 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11240,essv902,essv20025,essv20268,essv24650 M 271 0 0 FAM182A,FAM182B,LOC100134868 NA07048,NA11829,NA12144,NA19000,NA19204 esv363 20 25649992 26267569 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 C20orf191,FAM182A,FAM182B,LOC100134868,LOC284801,MIR663 nsv470545 20 25663507 26257255 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547372,nssv547373 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf191,FAM182A,FAM182B,LOC100134868,LOC284801,MIR663 HGDP00602,HGDP00924 nsv820681 20 25679048 25728918 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420090 S 1 1 0 FAM182B NA10851 esv23664 20 25679048 25797064 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10664,esv12685,esv13180,esv18917 M 451 5 9 FAM182B NA07045,NA11993,NA12004,NA18505,NA18511,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147,NA19190,NA19240 nsv7340 20 25702112 26056527 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9596,nssv9365,nssv10289,nssv6938 M 9 0 0 C20orf191,FAM182A,FAM182B,LOC100134868 NA12156,NA18507,NA18517,NA18956 esv990797 20 25709510 25785259 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586589 S 3 1 0 FAM182B HuRef nsv9794 20 25713986 25774310 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25047,nssv27690,nssv26079,nssv28609,nssv27705,nssv27121,nssv24779,nssv26060,nssv28610,nssv24795,nssv25300,nssv27698,nssv25275,nssv27553,nssv24820 M 31 0 9 Samples from several populations that are part of the HapMap project. FAM182B NA07048,NA18502,NA18504,NA18537,NA18563,NA18853,NA18975,NA19132,NA19221 nsv510784 20 25719629 25781607 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617443,nssv620163 M 4 0 2 FAM182B CHM,NA15510 nsv9795 20 25780369 25799689 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27905,nssv27712,nssv25069,nssv28641 M 31 3 1 Samples from several populations that are part of the HapMap project. "" NA18502,NA18552,NA18860,NA19221 nsv511064 20 25781607 25932085 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622430 S 4 0 0 "" NA10860 nsv515881 20 25812851 25870993 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662081,nssv671872,nssv672629,nssv674537,nssv667772,nssv678275,nssv701855,nssv665130 M 2026 8 0 "" dgv1320e1 20 25817609 26072099 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1906,essv15134,essv4850,essv20935 M 271 0 0 C20orf191,FAM182A,LOC100134868 NA12801,NA18540,NA18976,NA19129 esv23440 20 25821968 25860787 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20396 S 451 1 0 "" NA18858 nsv435997 20 25858597 25863323 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465708 S 2 1 0 "" NA15510 nsv9796 20 25892188 25927608 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25094,nssv28642 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18552,NA19221 esv25843 20 25937773 26070308 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12597,esv15131,esv20921,esv20615,esv14698,esv18089 M 451 18 9 C20orf191,FAM182A,LOC100134868 NA07037,NA07045,NA12004,NA12006,NA12239,NA12749,NA12776,NA15510,NA18505,NA18508,NA18511,NA18858,NA18861,NA18907,NA18909,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 nsv9797 20 25938371 25999189 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25325,nssv27749,nssv27763,nssv27131,nssv26117,nssv26098,nssv27756,nssv25072,nssv24804,nssv28644,nssv24870,nssv24845,nssv28643,nssv27561 M 31 0 9 Samples from several populations that are part of the HapMap project. FAM182A,LOC100134868 NA07048,NA18502,NA18504,NA18537,NA18563,NA18853,NA18975,NA19132,NA19221 nsv821510 20 25996097 26070308 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420091 S 1 1 0 C20orf191,FAM182A NA10851 nsv9798 20 26002382 26011382 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26486 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM182A NA19144 dgv1321e1 20 26006100 26072099 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15324,essv12278,essv12853 M 271 0 0 C20orf191,FAM182A NA18862,NA19101,NA19120 dgv1322e1 20 26006100 26181848 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4039,essv17906 M 271 0 0 C20orf191,FAM182A,LOC284801,MIR663 NA12003,NA18635 essv21671 20 26006100 26267569 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C20orf191,FAM182A,LOC284801,MIR663 NA12248 dgv509n27 20 26033338 26194086 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458957,nsv458958,nsv458955,nsv458956 M 1557 4 0 C20orf191,LOC284801,MIR663 1780862057_A,HGDP00187,HGDP00602,HGDP00924 nsv512607 20 26040456 26042997 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625219 S 1 0 1 C20orf191 1 esv272856 20 26042296 26042381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581034 S 7 1 0 Samples from several populations that are part of the HapMap project. C20orf191 hapmap_pooled_sample_set nsv458959 20 26094163 26194086 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535812 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC284801,MIR663 HGDP01076 esv33036 20 26130045 26168912 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98822,essv101305,essv99990 M 51 3 0 LOC284801,MIR663 21606,21805,22086 nsv9799 20 26135878 26139877 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24329,nssv25862,nssv27171,nssv24829,nssv24652,nssv27911,nssv21905,nssv28645,nssv26145,nssv22609 M 31 10 0 Samples from several populations that are part of the HapMap project. LOC284801,MIR663 NA07029,NA07048,NA10847,NA10863,NA12740,NA18504,NA18572,NA18860,NA19173,NA19221 esv271994 20 26138936 26139021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514813,essv2515327,essv2516059,essv2517831,essv2519463 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12234,NA12249,NA12873,NA12878 esv272775 20 26138936 26139021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581486 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv833949 20 26145923 26262296 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455030,nssv1455029,nssv1455028 M 95 2 1 "" esv27727 20 26146849 26168610 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11331 S 451 0 2 "" NA18511,NA19240 nsv820999 20 26146849 26168610 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420093 S 1 1 0 "" NA10851 nsv9800 20 26147127 26168911 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27702,nssv27118,nssv22510,nssv25097,nssv26500,nssv25610,nssv21935,nssv25624,nssv25600 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA10847,NA11830,NA12802,NA18853,NA18972,NA18980,NA19007,NA19144,NA19240 nsv828710 20 26147830 26161415 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436268 S 31 0 1 "" NA18566 esv2542975 20 26161097 26168411 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179839 S 1 0 1 "" NA18507 esv8321 20 26162311 26168372 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30762 S 1 0 1 "" SJK esv32633 20 26168380 26172977 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96018 S 51 0 1 "" 22127 nsv519490 20 26172651 26257255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656460,nssv687215,nssv656401,nssv658126,nssv687870,nssv658882,nssv693910,nssv662169,nssv675939,nssv691264,nssv661412,nssv675506,nssv677451,nssv662535 M 2026 0 14 "" nsv511065 20 26202784 26244873 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622431 S 4 0 0 "" NA10860 esv21516 20 26207476 26267513 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13742,esv18663,esv15728 M 451 9 0 "" NA12006,NA15510,NA18502,NA18505,NA18858,NA18916,NA19108,NA19129,NA19240 nsv820785 20 26207476 26267513 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420094 S 1 1 0 "" NA10851 esv7571 20 26208590 26209781 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30012 S 1 0 1 "" SJK dgv69n16 20 26240556 26259125 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435735,nsv436312 M 2 0 2 "" NA15510,NA18505 esv1311723 20 26245593 26249692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872157 S 2 0 1 "" HuRef esv8974 20 26245594 26250807 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31415 S 1 0 1 "" SJK nsv435733 20 26247611 26258106 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465716 S 2 0 1 "" NA15510 esv1732575 20 26249738 26249908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332713 S 2 0 1 "" HuRef esv1487254 20 26249913 26250767 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738150 S 2 0 1 "" HuRef dgv1323e1 20 28033231 28197751 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15064,essv20912 M 271 0 0 "" NA12801,NA19129 dgv1324e1 20 28033231 28267569 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1911,essv21706,essv9933,essv1355,essv4866,essv7774,essv691,essv12825,essv5381,essv2035,essv7600,essv2174,essv6982,essv9368,esv558,essv23931,essv15655,essv21311,essv5535,essv380 M 271 0 0 FRG1B,MLLT10P1 NA12248,NA12814,NA12878,NA18529,NA18540,NA18542,NA18545,NA18563,NA18612,NA18853,NA18912,NA18949,NA18960,NA18971,NA18975,NA18976,NA19007,NA19120,NA19145 nsv428376 20 28033231 28267569 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453834 S 62 1 0 FRG1B,MLLT10P1 HGDP00449 nsv435999 20 28033563 28034622 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465717 S 2 1 0 "" NA15510 nsv820643 20 28033715 28124055 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420095 S 1 1 0 "" NA10851 esv29610 20 28033715 28124670 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17005,esv10166 M 451 0 3 "" NA12749,NA19099,NA19129 nsv442779 20 28034013 28119552 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv267970 20 28056585 28056670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516456 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 essv101811 20 28057905 28222728 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv269645 20 28066839 28066924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517134 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv833950 20 28085815 28252086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455031,nssv1455032 M 95 2 0 FRG1B,MLLT10P1 esv993091 20 28086057 28087206 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575657 S 3 0 1 "" HuRef essv9486 20 28106854 28244356 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FRG1B NA19154 esv1002752 20 28119580 28184107 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586229 S 3 1 0 "" HuRef nsv436324 20 28121668 28150405 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465718 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv512608 20 28122399 28149799 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625220 S 1 0 1 "" 1 nsv9803 20 28124462 28149624 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27770,nssv28646,nssv25633,nssv25350 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA18502,NA18563,NA19221 esv987552 20 28139783 28148895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564440 S 3 0 1 "" HuRef esv21823 20 28141672 28267541 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15335,esv11674,esv18275 M 451 6 1 FRG1B,MLLT10P1 NA12004,NA12239,NA12287,NA15510,NA18858,NA18916,NA19129 nsv9804 20 28182980 28191625 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25904 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv821487 20 28243004 28266313 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420096 S 1 1 0 FRG1B,MLLT10P1 NA10851 nsv828711 20 28243004 28266313 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422303,nssv1432575 M 31 2 0 FRG1B,MLLT10P1 AK20,NA18997 esv269516 20 28252184 28253502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508794,essv2500330,essv2502824,essv2512103,essv2501960,essv2497997 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv272623 20 28252190 28253397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580082,essv2580036 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv436321 20 28252298 28259215 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465721 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv7214 20 28252473 28255073 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29655 S 1 0 1 "" SJK esv8895 20 28261177 28261304 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31336 S 1 0 1 "" SJK esv29806 20 29267723 29297104 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10142,esv12647 M 451 1 26 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18511,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240 esv994391 20 29268259 29296234 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586627 S 3 1 0 "" HuRef esv2423484 20 29270041 29270309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307268 S 1 0 1 "" NA18507 esv2485082 20 29270452 29297450 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361772 S 1 1 0 "" NA18507 nsv179416 20 29270756 29274157 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197994 M 24 "" esv1584116 20 29293089 29293159 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327570 S 2 0 1 "" HuRef nsv833951 20 29297109 29341866 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455036,nssv1455043,nssv1455038,nssv1455037,nssv1455042,nssv1455039,nssv1455041,nssv1455035,nssv1455034,nssv1455040,nssv1455033 M 95 1 10 DEFB115 nsv458960 20 29297270 29376513 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535813 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFB115,DEFB116 HGDP01199 nsv470546 20 29297270 29698963 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547374 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COX4I2,DEFB115,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,HM13,ID1,LINC00028,MIR3193,PSIMCT-1,REM1 HGDP00956 nsv458961 20 29357162 29739567 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535814 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BCL2L1,COX4I2,DEFB116,DEFB118,DEFB119,DEFB121,DEFB122,DEFB123,DEFB124,HM13,ID1,LINC00028,MIR3193,PSIMCT-1,REM1 HGDP00956 nsv3344 20 29367867 29413611 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6939 S 9 0 1 "" NA12156 nsv912835 20 29376513 29516916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550654 S 6533 1 0 DEFB118,DEFB119,DEFB121,DEFB122,DEFB123 MS18510 esv270703 20 29495746 29496086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504283,essv2506070,essv2513560,essv2507420,essv2507010 M 157 5 0 Samples from several populations that are part of the HapMap project. DEFB123 NA18505,NA18523,NA18907,NA18912,NA19102 esv33926 20 29506146 29514447 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99996,essv96408 M 51 0 2 "" 22086,22371 nsv3345 20 29600517 29645410 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7669 S 9 0 1 HM13 NA12156 nsv828712 20 29605479 29606264 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432577 S 31 0 1 HM13 AK20 esv269581 20 29638837 29638922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519398 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 nsv179840 20 29681560 29685370 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198418 M 24 "" esv2444548 20 29740192 29741065 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162797 S 1 1 0 BCL2L1 NA18507 nsv513543 20 29781669 29782289 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625895 S 1 1 0 "" 1 nsv3346 20 29841456 29872807 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10290 S 9 1 0 MYLK2,TPX2 NA18956 nsv833952 20 29906965 30100964 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455044 S 95 1 0 C20orf160,DUSP15,PDRG1,TTLL9,XKR7 nsv912836 20 29907641 29924530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511104 S 6533 0 1 DUSP15,TTLL9 SP54988 nsv3347 20 29923143 29952988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10291,nssv9865 M 9 2 0 TTLL9 NA18507,NA18956 esv21897 20 29941735 29945501 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14564 S 451 2 0 TTLL9 NA18517,NA19108 nsv817890 20 29941937 29945359 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416513,nssv1416514 M 112 2 0 TTLL9 NA18515,NA18517 nsv517635 20 29941937 29953523 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667406,nssv680087,nssv673678,nssv656705,nssv654671,nssv693940,nssv684440,nssv679803,nssv689761,nssv686876,nssv671445,nssv677923,nssv670613,nssv660836,nssv664855,nssv688452,nssv686164,nssv690074,nssv661413,nssv680714,nssv658825,nssv663173,nssv682885,nssv675940,nssv666210,nssv679714,nssv681379,nssv668015,nssv688796,nssv673713,nssv666155,nssv659613,nssv691064,nssv682540,nssv652629 M 2026 35 0 TTLL9 nsv3348 20 30003605 30048321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7670 S 9 0 1 XKR7 NA12156 esv2637856 20 30036553 30040305 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275250 S 1 0 1 XKR7 NA18507 esv29218 20 30047168 30048146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10942 S 451 0 1 XKR7 NA18858 nsv833953 20 30074056 30256242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455045 S 95 0 1 C20orf160,HCK,PLAGL2,TM9SF4,TSPY26P nsv817891 20 30103091 30116038 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417703 S 112 1 0 HCK NA18999 nsv833954 20 30174844 30352253 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455049,nssv1455051,nssv1455050,nssv1455048,nssv1455047,nssv1455046 M 95 0 6 KIF3B,PLAGL2,POFUT1,TM9SF4,TSPY26P nsv512609 20 30226115 30229129 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625222 S 1 0 1 "" 1 nsv3349 20 30247599 30282935 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1596 S 9 1 0 PLAGL2,POFUT1 NA19240 esv29458 20 30303058 30307172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15037 S 451 0 1 "" NA11894 nsv509764 20 30330885 30398155 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623823 S 4 1 0 KIF3B NA18994 nsv179526 20 30350893 30351749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198104 M 24 KIF3B esv2493207 20 30362522 30364072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190700 S 1 0 1 KIF3B NA18507 esv2404832 20 30362695 30363385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708920 S 1 0 1 KIF3B NA18507 esv3059 20 30362817 30363261 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25500 S 1 0 1 Single Asian sample YH KIF3B YH dgv22e197 20 30362894 30363205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2546961,esv2573162 M 1 0 1 KIF3B NA18507 esv1431260 20 30362900 30363205 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904570 S 2 0 1 KIF3B HuRef nsv178620 20 30362901 30363205 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197198 M 24 KIF3B esv1171233 20 30374143 30374143 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715779 S 2 1 0 KIF3B HuRef esv1131334 20 30374162 30374162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301041 S 2 1 0 KIF3B HuRef esv1121934 20 30374458 30374458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972582 S 2 1 0 KIF3B HuRef esv1361811 20 30374474 30374474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685198 S 2 1 0 KIF3B HuRef esv1301631 20 30374480 30374480 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926264 S 2 1 0 KIF3B HuRef esv2452890 20 30429467 30429622 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312287 S 1 0 1 ASXL1 NA18507 nsv509765 20 30471843 30540712 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623824 S 4 1 0 ASXL1,C20orf112 NA18994 dgv4562n71 20 30482685 30704686 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912838,nsv912837 M 6533 0 2 ASXL1,C20orf112,C20orf203,LOC149950 MS10311,MS16153 nsv819614 20 30498256 30498508 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419470 S 2 1 0 C20orf112 AK1 nsv523511 20 30512043 30689016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699283 S 2026 0 1 C20orf112,C20orf203,LOC149950 nsv521347 20 30512043 30732585 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697955 S 2026 1 0 C20orf112,C20orf203,LOC149950 nsv833955 20 30528643 30631518 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455052 S 95 0 1 C20orf112 esv2044093 20 30540091 30540443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769604 S 1 0 1 "" NA18507 esv5797 20 30542728 30542779 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28238 S 1 1 0 "" SJK nsv509766 20 30593387 30724063 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623825 S 4 1 0 C20orf203,LOC149950 NA18994 esv2642082 20 30614398 30615057 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328929 S 1 1 0 "" NA18507 nsv178820 20 30629605 30637982 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197398 M 24 "" esv22458 20 30634479 30637062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19880 S 451 0 3 "" NA07045,NA12004,NA12489 esv2503295 20 30635381 30637397 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221199 S 1 0 1 "" NA18507 nsv516018 20 30647942 30718645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663676,nssv702315,nssv652419 M 2026 0 3 C20orf203,LOC149950 nsv470547 20 30647942 30732585 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547375 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf203,LOC149950 HGDP01412 nsv912839 20 30653654 30737183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538751 S 6533 0 1 C20orf203,LOC149950 MS13770 esv1000203 20 30670647 30672749 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565016 S 3 1 0 "" HuRef nsv513544 20 30672382 30672809 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625959 S 1 1 0 "" 1 esv1188948 20 30672699 30672699 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320588 S 2 1 0 "" HuRef esv1709873 20 30672744 30672744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993452 S 2 1 0 "" HuRef nsv833956 20 30674533 30865824 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455053 S 95 0 1 C20orf203,COMMD7,DNMT3B esv2256879 20 30752340 30752837 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999704 S 1 0 1 "" NA18507 esv994647 20 30770522 30777285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564999 S 3 0 1 COMMD7 HuRef esv2552132 20 30773790 30777195 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350502 S 1 0 1 COMMD7 NA18507 nsv512610 20 30773823 30776459 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625223 S 1 0 1 COMMD7 1 nsv512611 20 30790086 30792102 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625224 S 1 0 1 COMMD7 1 nsv833957 20 30806783 30959459 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455056,nssv1455055,nssv1455054 M 95 1 2 DNMT3B,MAPRE1 esv2085221 20 30863645 30864018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668647 S 1 0 1 "" NA18507 nsv833959 20 30881071 31034401 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455057 S 95 0 1 MAPRE1 nsv179909 20 30886026 30886831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198487 M 24 MAPRE1 nsv179907 20 30886848 30895923 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198485 M 24 MAPRE1 esv996804 20 30937382 30949365 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565296 S 3 0 1 "" HuRef nsv179963 20 30950889 30957226 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198541 M 24 "" esv2241447 20 30952769 30953201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518380 S 1 0 1 "" NA18507 nsv178560 20 30952959 30953029 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197138 M 24 "" dgv1325e1 20 30959468 31211827 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13571,essv1730,essv14152,essv16030,essv10063,essv12687,essv18645,essv21715,essv15602,essv8724,essv16673,essv20373,essv9873,essv17632,essv11882,essv7810,essv16091,essv23602,essv4037,esv321,essv6262,essv13096,essv9359,essv13423,essv24585,essv8340,essv18140,essv9456,essv1284,essv16291,essv7737,essv4157,essv17073,essv14958,essv17155,essv10846,essv8798,essv16772,essv13195,essv16897,essv10644,essv10897,essv11504,essv14555,essv20674,essv15501,essv3991 M 271 0 0 BPIFB2,BPIFB3,BPIFB4,BPIFB6,SUN5 NA10830,NA11992,NA11993,NA12006,NA12234,NA12248,NA12753,NA12892,NA18500,NA18501,NA18505,NA18508,NA18555,NA18558,NA18633,NA18635,NA18636,NA18852,NA18853,NA18855,NA18858,NA18870,NA18871,NA18872,NA18970,NA18995,NA18997,NA19092,NA19099,NA19100,NA19102,NA19137,NA19140,NA19142,NA19145,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19202,NA19205,NA19208,NA19209,NA19221 nsv3350 20 30980263 31002179 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4527 S 9 0 1 "" NA12878 nsv498968 20 30989149 30993049 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585829 S 9 0 1 "" esv22767 20 30989409 30992970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12515 S 451 0 1 "" NA06985 nsv912840 20 30998926 31044820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547050,nssv1531003 M 6533 0 2 SUN5 MS10311,MS17208 nsv523523 20 31017374 31022383 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699296 S 2026 1 0 "" esv991017 20 31024793 31037857 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564160 S 3 0 1 SUN5 HuRef esv1002892 20 31034025 31034158 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574780 S 3 0 1 "" HuRef essv2996 20 31039788 31169289 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BPIFB2,BPIFB3,BPIFB4,BPIFB6,SUN5 NA18981 nsv3351 20 31065762 31089000 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10292 S 9 1 0 BPIFB2,BPIFB6 NA18956 nsv3352 20 31073600 31118417 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7671 S 9 0 1 BPIFB2,BPIFB3,BPIFB6 NA12156 esv2062445 20 31076548 31077053 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921746 S 1 0 1 "" NA18507 dgv4563n71 20 31081079 31115244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912841,nsv912842 M 6533 0 2 BPIFB3,BPIFB6 IS41866,MS17674 esv2511781 20 31198421 31199320 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310819 S 1 1 0 "" NA18507 nsv458964 20 31204465 31281265 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535816 S 1557 0 1 BPIFA2,BPIFA3,BPIFA4P 1798860570_A esv2751912 20 31231086 31300124 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985340,essv6985341,essv6989489 M 771 0 1 BPIFA1,BPIFA2,BPIFA3,BPIFA4P SPC_147 esv2145221 20 31273894 31274287 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978665 S 1 0 1 BPIFA3 NA18507 esv1234931 20 31328490 31328618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341173 S 2 0 1 "" HuRef nsv518678 20 31340342 31341559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696127 S 2026 0 1 BPIFB1 dgv94n6 20 31372298 31379086 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179158,nsv178787,nsv180452 M 24 "" nsv819750 20 31443714 31446595 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419489 S 2 0 1 CDK5RAP1 AK1 nsv522690 20 31478697 31603948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706100 S 2026 0 1 CBFA2T2,SNTA1 esv2468412 20 31506698 31508702 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386345 S 1 0 1 "" NA18507 nsv512612 20 31507179 31509453 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625225 S 1 0 1 "" 1 esv1754593 20 31507931 31508614 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947185 S 2 0 1 "" HuRef esv24338 20 31547992 31548961 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13793 S 451 0 1 CBFA2T2 NA18502 nsv833960 20 31620526 31739527 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455058 S 95 0 1 C20orf134,C20orf144,CBFA2T2,E2F1,NECAB3 nsv833961 20 31656847 31888459 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455059 S 95 0 1 C20orf134,C20orf144,CBFA2T2,CHMP4B,E2F1,NECAB3,PXMP4,ZNF341 nsv828713 20 31705119 31706134 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438535 S 31 0 1 "" NA18951 dgv4564n71 20 31708075 31758245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912846,nsv912844,nsv912843 M 6533 0 5 C20orf134,C20orf144,E2F1,NECAB3,PXMP4 SP54043,SP54725,SP54956,SP54988,SP55021 dgv4565n71 20 31712496 31748231 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912845,nsv912847 M 6533 0 2 C20orf134,C20orf144,E2F1,NECAB3 SP51109,SP54672 nsv482067 20 31717965 31719991 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558428 S 1 1 0 C20orf134,NECAB3 KB1 esv997211 20 31750405 31751368 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565483 S 3 0 1 "" HuRef esv995879 20 31750454 31757502 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565673 S 3 0 1 PXMP4 HuRef nsv3353 20 31761962 31806760 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7672 S 9 0 1 PXMP4,ZNF341 NA12156 nsv912848 20 31762461 31848505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547051 S 6533 0 1 PXMP4,ZNF341 MS17208 nsv828714 20 31770792 31787820 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428759 S 31 0 1 PXMP4,ZNF341 AK10 nsv3355 20 31778438 31811287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6940 S 9 1 0 ZNF341 NA12156 nsv180563 20 31786493 31790439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199141 M 24 ZNF341 nsv518926 20 31792629 31953555 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696391 S 2026 1 0 CHMP4B,ZNF341 nsv470548 20 31831364 31871817 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547376 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHMP4B,ZNF341 HGDP01364 nsv458965 20 31831364 31890503 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535817 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHMP4B,ZNF341 HGDP01364 esv990217 20 31932391 31946171 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565143 S 3 0 1 "" HuRef nsv3356 20 31954569 31999620 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7673 S 9 0 1 "" NA12156 nsv3357 20 32243712 32296412 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1597,nssv4660,nssv2331 M 9 0 3 "" NA18555,NA19129,NA19240 esv2234992 20 32252260 32252704 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557805 S 1 0 1 "" NA18507 nsv510785 20 32253917 32298682 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622798,nssv619008 M 4 0 2 "" NA10860,NA18994 esv268398 20 32257084 32257431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516821,essv2516330,essv2514246 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12814,NA12874 dgv70n16 20 32278875 32283670 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435737,nsv436311 M 2 0 2 "" NA15510,NA18505 esv1004303 20 32278992 32283034 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565048 S 3 0 1 "" HuRef esv2641528 20 32279209 32283661 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165071 S 1 0 1 "" NA18507 esv2500344 20 32279384 32284921 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254131 S 1 0 1 "" NA18507 esv2368440 20 32279404 32283079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804082 S 1 0 1 "" NA18507 nsv512613 20 32279524 32283236 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625226 S 1 0 1 "" 1 esv5196 20 32279558 32282945 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27637 S 1 0 1 Single Asian sample YH "" YH nsv498969 20 32279589 32282897 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585830 S 9 0 1 "" esv7149 20 32279589 32282900 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29590 S 1 0 1 "" SJK esv1375615 20 32279599 32282896 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114058 S 2 0 1 "" HuRef nsv3358 20 32330016 32374994 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7674 S 9 0 1 AHCY NA12156 dgv4566n71 20 32453744 32477872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912849,nsv912852 M 6533 0 2 ITCH SP54408,SP55750 dgv4567n71 20 32453744 32489664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912850,nsv912855,nsv912851,nsv912853,nsv912854 M 6533 0 11 ITCH SP50063,SP50120,SP50725,SP52094,SP52114,SP52858,SP55663,SP56138,SP56172,SP56294,SP57418 nsv912856 20 32458376 32560164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513986 S 6533 0 1 ITCH,MIR644 SP55878 nsv912857 20 32469295 32489228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518951 S 6533 0 1 ITCH SP80913 nsv912858 20 32536705 32573703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518230 S 6533 0 1 DYNLRB1,ITCH SP57472 nsv912859 20 32539471 32564884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500807,nssv1507208 M 6533 0 2 ITCH SP50725,SP54490 esv2348050 20 32579289 32580018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954513 S 1 0 1 DYNLRB1 NA18507 esv4648 20 32579435 32579924 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27089 S 1 0 1 Single Asian sample YH DYNLRB1 YH esv1002762 20 32579477 32579809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566913 S 3 0 1 DYNLRB1 HuRef esv1132908 20 32579492 32579825 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931706 S 2 0 1 DYNLRB1 HuRef nsv179054 20 32579493 32579825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197632 M 24 DYNLRB1 nsv3359 20 32583039 32627697 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7675 S 9 0 1 DYNLRB1,MAP1LC3A,PIGU NA12156 nsv3360 20 32613777 32648911 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1598 S 9 1 0 PIGU NA19240 esv989025 20 32702810 32708441 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563995 S 3 0 1 PIGU HuRef nsv512614 20 32704881 32707957 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625227 S 1 0 1 PIGU 1 esv2546222 20 32704999 32708738 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259885 S 1 0 1 PIGU NA18507 nsv180489 20 32705521 32707945 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199067 M 24 PIGU esv22551 20 32705988 32707384 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18210 S 451 0 4 PIGU NA11995,NA12239,NA12828,NA19147 nsv819225 20 32764793 32766792 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419366 S 2 0 1 NCOA6,TP53INP2 AK1 nsv3361 20 32789483 32823214 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7676 S 9 1 0 NCOA6 NA12156 nsv820037 20 32825935 32836702 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418596 S 2 0 1 NCOA6 AK1 nsv912860 20 32905799 33049495 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565335 S 6533 1 0 ACSS2,GGT7,GSS,MIR499,MIR499A,MYH7B IS30395 esv271518 20 32937401 32937486 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519047 S 157 1 0 Samples from several populations that are part of the HapMap project. ACSS2 NA19141 esv2520076 20 32940530 32942102 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320305 S 1 0 1 ACSS2 NA18507 dgv95n6 20 32940834 32940997 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv178617,nsv178727 M 24 ACSS2 nsv833962 20 32979152 33164714 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455062,nssv1455060,nssv1455061 M 95 0 3 ACSS2,GSS,MIR499,MIR499A,MYH7B,TRPC4AP nsv3362 20 33029966 33062189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1599 S 9 1 0 MIR499,MIR499A,MYH7B,TRPC4AP NA19240 esv2618405 20 33084845 33086461 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182975 S 1 0 1 TRPC4AP NA18507 esv2294766 20 33085113 33085790 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859105 S 1 0 1 TRPC4AP NA18507 esv3757 20 33085139 33085780 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26198 S 1 0 1 Single Asian sample YH TRPC4AP YH esv1332184 20 33085316 33085638 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678095 S 2 0 1 TRPC4AP HuRef esv993031 20 33085317 33086047 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565830 S 3 0 1 TRPC4AP HuRef esv9162 20 33085329 33085699 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31603 S 1 0 1 TRPC4AP SJK esv1769509 20 33148843 33148843 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870867 S 2 1 0 "" HuRef nsv180412 20 33149150 33149223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198990 M 24 "" esv2480993 20 33179402 33181384 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363594 S 1 0 1 EDEM2 NA18507 esv1987108 20 33179616 33180586 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648006 S 1 0 1 EDEM2 NA18507 esv1170473 20 33205176 33205500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676578 S 2 0 1 "" HuRef nsv912861 20 33209337 33228215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512887 S 6533 1 0 PROCR SP55649 nsv912862 20 33218265 33228215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501830 S 6533 1 0 PROCR SP50872 nsv3363 20 33360823 33391947 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4528 S 9 1 0 UQCC NA12878 nsv833963 20 33381600 33549921 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455063 S 95 1 0 CEP250,GDF5,UQCC esv274290 20 33412378 33412759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580219,essv2580342,essv2580013,essv2580689,essv2579109,essv2579580 M 7 6 0 Samples from several populations that are part of the HapMap project. UQCC NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268486 20 33412424 33412746 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565658,essv2542225,essv2522825,essv2556512,essv2525277,essv2535363,essv2520814,essv2557031,essv2550199,essv2558865,essv2544941,essv2542836,essv2524698,essv2539596,essv2532640,essv2528702,essv2553310,essv2559345,essv2566878,essv2543432,essv2534005,essv2555749,essv2567053,essv2566498,essv2529918,essv2527428,essv2531427,essv2526975,essv2529512,essv2560746,essv2523964,essv2530449,essv2571432,essv2551410,essv2563547 M 157 35 0 Samples from several populations that are part of the HapMap project. UQCC NA10847,NA11829,NA11919,NA11931,NA11994,NA12156,NA12249,NA18498,NA18501,NA18511,NA18516,NA18526,NA18550,NA18555,NA18563,NA18576,NA18579,NA18605,NA18638,NA18853,NA18870,NA18916,NA18945,NA18947,NA18948,NA18949,NA18952,NA18961,NA19005,NA19093,NA19116,NA19129,NA19141,NA19238,NA19257 nsv178542 20 33439526 33447197 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197120 M 24 UQCC nsv179166 20 33455922 33461921 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197744 M 24 UQCC nsv3364 20 33561020 33594772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4530 S 9 1 0 C20orf173,CEP250,ERGIC3 NA12878 nsv517785 20 33608160 33616196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654499,nssv653243,nssv680799,nssv663525,nssv666260,nssv694016 M 2026 0 6 ERGIC3,FER1L4 nsv526796 20 33608160 33633588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703150 S 2026 0 1 ERGIC3,FER1L4 nsv178794 20 33623480 33632019 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197372 M 24 FER1L4 nsv526188 20 33627877 34070415 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702450 S 2026 1 0 C20orf152,CPNE1,FER1L4,NFS1,PHF20,RBM12,RBM39,ROMO1,SCAND1,SPAG4 dgv698n67 20 33633088 33636650 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828716,nsv828715 M 31 0 2 FER1L4 AK20,NA18947 nsv3366 20 33879828 33904094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9598 S 9 1 0 PHF20 NA18507 nsv522947 20 33896975 34023940 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698614 S 2026 1 0 C20orf152,PHF20,SCAND1 esv2096453 20 33901785 33902176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900256 S 1 0 1 PHF20 NA18507 nsv3367 20 33911309 33944643 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7677 S 9 1 0 PHF20 NA12156 esv267652 20 33921946 33922031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516046 S 157 1 0 Samples from several populations that are part of the HapMap project. PHF20 NA12873 nsv912863 20 33936982 34042811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501954 S 6533 0 1 C20orf152,PHF20,SCAND1 SP50725 nsv912864 20 33952979 34098855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552802 S 6533 0 1 C20orf152,LOC647979,PHF20,SCAND1 MS19630 esv2353057 20 33953085 33953518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888546 S 1 0 1 PHF20 NA18507 nsv833964 20 33989554 34143087 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455066,nssv1455064,nssv1455065 M 95 0 3 C20orf152,LOC647979,PHF20,SCAND1 esv2196991 20 34011916 34012292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622292 S 1 0 1 "" NA18507 nsv833965 20 34137033 34335940 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455067,nssv1455068 M 95 0 2 C20orf4,EPB41L1 nsv3368 20 34172658 34207112 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4531 S 9 1 0 EPB41L1 NA12878 nsv3369 20 34209022 34244013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1600 S 9 1 0 EPB41L1 NA19240 esv1933771 20 34343672 34345169 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820174 S 1 0 1 "" NA18507 nsv833966 20 34472397 34529525 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455070,nssv1455069 M 95 1 1 DLGAP4 nsv521346 20 34480334 34484621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694435 S 2026 0 1 DLGAP4 nsv833967 20 34539244 34720686 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455071 S 95 0 1 C20orf24,DLGAP4,MYL9,NDRG3,SLA2,TGIF2,TGIF2-C20ORF24 esv2554197 20 34703540 34704127 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315526 S 1 1 0 SLA2 NA18507 esv992784 20 34747713 34748311 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564991 S 3 1 0 NDRG3 HuRef nsv7341 20 34857376 34871738 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6941 S 9 0 0 KIAA0889 NA12156 nsv912865 20 34903162 34934264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510398 S 6533 0 1 KIAA0889 SP54956 esv29717 20 34924569 34925962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11336 S 451 0 1 KIAA0889 NA12489 esv27677 20 34956615 34957703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19871 S 451 0 1 SAMHD1 NA11995 nsv912866 20 34978087 35012094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514738 S 6533 0 1 SAMHD1 SP56047 nsv521137 20 35017002 35018836 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697809 S 2026 0 1 "" esv26419 20 35166578 35167640 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19285 S 451 1 0 C20orf132 NA18909 nsv178626 20 35231723 35233420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197204 M 24 C20orf132 nsv510487 20 35232218 35238218 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624246,nssv621499 M 4 0 2 C20orf132 NA15510,NA18994 esv2516589 20 35248654 35249991 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316570 S 1 0 1 RPN2 NA18507 esv2082246 20 35248822 35249487 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798817 S 1 0 1 RPN2 NA18507 esv8416 20 35248900 35249366 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30857 S 1 0 1 RPN2 SJK esv4013 20 35248984 35249392 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26454 S 1 0 1 Single Asian sample YH RPN2 YH esv1174249 20 35249037 35249349 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813070 S 2 0 1 RPN2 HuRef nsv519722 20 35301633 35304638 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697012 S 2026 0 1 RPN2 nsv524059 20 35310424 35528302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699925 S 2026 0 1 GHRH,MANBAL,SRC nsv509767 20 35367394 35539416 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619843 S 4 1 0 MANBAL,SRC NA10860 nsv470551 20 35376132 35509990 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547377 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MANBAL,SRC HGDP00599 nsv458967 20 35388351 35501287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535818 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SRC HGDP00715 nsv523618 20 35402488 35528302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699415 S 2026 0 1 SRC nsv833968 20 35434228 35582624 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455072 S 95 1 0 BLCAP,SRC dgv510n27 20 35438689 35509280 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458971,nsv458969,nsv458970 M 1557 0 3 SRC HGDP00864,NINDS_136,NINDS_51 nsv528371 20 35440545 35509280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704958 S 2026 0 1 SRC nsv523834 20 35440545 35515558 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699666 S 2026 1 0 SRC nsv516343 20 35443071 35509280 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673589,nssv699382,nssv663705,nssv696467,nssv680916,nssv658052,nssv667711,nssv703703,nssv686877 M 2026 1 8 SRC esv28115 20 35472956 35473872 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17431 S 451 0 1 "" NA19190 nsv817892 20 35503067 35509990 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417570 S 112 0 1 "" NA18972 esv29568 20 35549379 35549955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13404 S 451 0 1 "" NA18523 nsv3370 20 35640102 35673518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1602 S 9 1 0 "" NA19240 dgv1326e1 20 35736026 35759976 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13208,esv1319 M 271 0 0 CTNNBL1,LOC100287792 NA19120 nsv9806 20 35736234 35739081 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25122,nssv26916,nssv27777 M 31 3 0 Samples from several populations that are part of the HapMap project. LOC100287792 NA12155,NA18502,NA18853 nsv179940 20 35741254 35745055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198518 M 24 LOC100287792 nsv3371 20 35747963 35782757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4532 S 9 1 0 CTNNBL1 NA12878 esv271662 20 35778870 35778971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512610,essv2496837,essv2505714,essv2501228,essv2499644 M 157 5 0 Samples from several populations that are part of the HapMap project. CTNNBL1 NA18489,NA18498,NA18861,NA19093,NA19225 esv268096 20 35870774 35870859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517985 S 157 1 0 Samples from several populations that are part of the HapMap project. CTNNBL1 NA12872 nsv833970 20 35879174 35971325 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455077,nssv1455075,nssv1455082,nssv1455074,nssv1455076,nssv1455080,nssv1455079,nssv1455078,nssv1455081,nssv1455073 M 95 10 0 CTNNBL1,VSTM2L esv2633566 20 35975585 35976631 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254575 S 1 1 0 VSTM2L NA18507 nsv833971 20 35978952 36135428 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455083,nssv1455084 M 95 2 0 RPRD1B,TTI1,VSTM2L nsv833972 20 36011764 36250655 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455085 S 95 0 1 RPRD1B,TGM2,TTI1 esv33494 20 36042191 36043147 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93740 S 51 0 1 "" 21972 nsv180347 20 36177959 36177959 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198925 M 24 "" esv1091261 20 36177975 36177975 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754753 S 2 1 0 "" HuRef nsv513545 20 36185570 36185993 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625960 S 1 1 0 "" 1 esv29167 20 36224728 36233965 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10311,esv17872,esv20342 M 451 3 0 TGM2 NA18505,NA18861,NA19114 nsv912867 20 36235760 36299967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563869 S 6533 1 0 KIAA1755 IS30098 esv2461066 20 36256158 36256568 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247184 S 1 1 0 "" NA18507 esv1543944 20 36256401 36256401 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359986 S 2 1 0 "" HuRef esv35121 20 36367044 36515559 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979845,essv6986961,essv6979846 M 771 1 0 BPI,LBP,LOC388796,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D NA18852 dgv1327e1 20 36367793 36539571 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9290,esv608 M 271 0 0 BPI,LBP,LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D NA18852 nsv817893 20 36370554 36513421 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417954 S 112 1 0 BPI,LBP,LOC388796,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D NA18852 essv13086 20 36392696 36498327 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BPI,LBP,LOC388796,SNORA71A,SNORA71B,SNORA71C,SNORA71D NA18852 esv2540422 20 36417802 36418202 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291557 S 1 1 0 LBP NA18507 nsv9807 20 36439555 36450281 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25375 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv828717 20 36442739 36446958 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436269,nssv1426297 M 31 0 2 "" AK4,NA18566 dgv511n27 20 36442880 36444682 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458976,nsv458974,nsv458975 M 1557 0 3 "" HGDP00550,HGDP00952,HGDP00958 nsv517753 20 36442880 36444682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674793,nssv655814,nssv653121,nssv687365,nssv691772,nssv661932,nssv661781,nssv690532,nssv686979,nssv690327 M 2026 0 10 "" esv2421535 20 36442880 36446574 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124138,essv5103658,essv5142467,essv5051590,essv5026486,essv5018943,essv5088477,essv5051929,essv5151177,essv5147935,essv5037047,essv5119734,essv5070298,essv5159303,essv5125750,essv5045184,essv5153240,essv5071102,essv5063775,essv5137368,essv5048488,essv5083425,essv5022204,essv5070193,essv5014980,essv5045319,essv5068480,essv5120607,essv5037236,essv5039282,essv5076157,essv5059521,essv5114869,essv5018472,essv5053475,essv5096786,essv5019468,essv5060323,essv5093782,essv5145785,essv5013650,essv5070380,essv5100979,essv5014050,essv5071091,essv5064651,essv5108525,essv5070011,essv5126081,essv5101749,essv5136348,essv5130376,essv5140926,essv5079621,essv5091536,essv5045789,essv5116355,essv5158975,essv5095322,essv5144574 M 1184 0 60 "" NA12154,NA12877,NA12890,NA17972,NA17975,NA17979,NA17980,NA17990,NA18101,NA18102,NA18106,NA18146,NA18150,NA18532,NA18546,NA18548,NA18561,NA18566,NA18597,NA18608,NA18614,NA18622,NA18623,NA18628,NA18631,NA18638,NA18670,NA18674,NA18694,NA18704,NA18939,NA18940,NA18960,NA18978,NA18993,NA19056,NA19074,NA19077,NA19081,NA19087,NA19088,NA19307,NA19310,NA19771,NA19772,NA20783,NA20858,NA20883,NA20887,NA20888,NA20890,NA20897,NA20911,NA21094,NA21142,NA21307,NA21513,NA21522,NA21682,NA21723 nsv458977 20 36444682 36460639 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535826 S 1557 0 1 "" NINDS_48 nsv509769 20 36455272 36539315 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623827 S 4 1 0 LOC388796,RALGAPB,SNHG11,SNORA39,SNORA60,SNORA71A,SNORA71B,SNORA71C,SNORA71D NA18994 nsv9808 20 36463099 36466037 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27709 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv828718 20 36463996 36465691 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433362 S 31 0 1 "" NA18972 nsv9809 20 36487773 36489733 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22639 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC388796,SNORA71A NA18572 dgv699n67 20 36488402 36489226 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828719,nsv828721 M 31 0 3 LOC388796 NA18547,NA18566,NA18968 esv25499 20 36488458 36489263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19193 S 451 0 4 LOC388796 NA11894,NA12287,NA12878,NA18907 esv6859 20 36488516 36489226 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29300 S 1 0 1 LOC388796 SJK nsv828722 20 36488741 36489226 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423885,nssv1426299 M 31 0 2 LOC388796 AK4,NA18999 esv995201 20 36522253 36526975 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565643 S 3 1 0 "" HuRef esv1664459 20 36526112 36526112 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961367 S 2 1 0 "" HuRef esv1053536 20 36526256 36526256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062280 S 2 1 0 "" HuRef esv1694794 20 36526282 36526282 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002822 S 2 1 0 "" HuRef esv1578419 20 36526296 36526296 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089702 S 2 1 0 "" HuRef esv1273253 20 36526310 36526310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640091 S 2 1 0 "" HuRef esv2624452 20 36571915 36573307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192158 S 1 0 1 RALGAPB NA18507 esv2359941 20 36572479 36573181 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586675 S 1 0 1 RALGAPB NA18507 esv2581563 20 36572671 36572983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211308 S 1 0 1 RALGAPB NA18507 nsv179180 20 36572685 36572997 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197758 M 24 RALGAPB nsv3372 20 36649199 36681267 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4533 S 9 1 0 ADIG,ARHGAP40 NA12878 esv1002417 20 36671137 36673651 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563462 S 3 0 1 ARHGAP40 HuRef esv2429393 20 36714750 36715664 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184816 S 1 1 0 "" NA18507 esv2637374 20 36718463 36718557 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234410 S 1 0 1 "" NA18507 dgv4568n71 20 36758026 36902670 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912868,nsv912869 M 6533 0 2 ACTR5,PPP1R16B,SLC32A1 IS34572,MS19630 esv1003956 20 36770436 36770487 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573790 S 3 0 1 "" HuRef nsv3373 20 36903806 36944918 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11036,nssv7678 M 9 2 0 PPP1R16B NA12156,NA15510 nsv3374 20 36962413 36999439 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7679 S 9 0 1 FAM83D,PPP1R16B NA12156 nsv833973 20 37030939 37203105 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455086 S 95 0 1 DHX35 esv7759 20 37115055 37115144 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30200 S 1 1 0 "" SJK nsv507907 20 37148705 37154705 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623305 S 4 1 0 "" NA18994 nsv513546 20 37151322 37151516 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625961 S 1 1 0 "" 1 nsv833974 20 37251375 37414264 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455087 S 95 1 0 LOC339568 nsv3375 20 37263696 37295391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1603 S 9 1 0 LOC339568 NA19240 nsv522247 20 37272154 37310186 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695027 S 2026 1 0 LOC339568 esv259500 20 37387966 37388267 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394133,essv2393645 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238 nsv180428 20 37388143 37388143 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199006 M 24 "" nsv180055 20 37388203 37388203 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198633 M 24 "" esv275532 20 37467865 37479530 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585963 S 1250 0 1 "" nsv833975 20 37476876 37649817 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455088,nssv1455089 M 95 1 1 "" nsv180417 20 37497382 37504454 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198995 M 24 "" esv274196 20 37644060 37644390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581946,essv2583043 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv269211 20 37644064 37644394 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540708,essv2571691,essv2521406,essv2526121,essv2522871,essv2570953,essv2577478,essv2570443,essv2550565,essv2550474,essv2554222,essv2547353,essv2529205,essv2558552,essv2578002,essv2553681,essv2565404,essv2520040,essv2564252,essv2554995,essv2530574,essv2561916,essv2537508,essv2546694,essv2563055,essv2552959,essv2538365,essv2524381,essv2534646,essv2549173,essv2531050,essv2532849,essv2535782,essv2559193,essv2562374,essv2555436,essv2555588,essv2530175,essv2557646,essv2555941,essv2575636,essv2548707,essv2524820 M 157 43 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11831,NA11840,NA11894,NA11918,NA11931,NA11993,NA12043,NA12044,NA12155,NA12234,NA12287,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12892,NA18532,NA18542,NA18547,NA18555,NA18561,NA18564,NA18573,NA18576,NA18608,NA18638,NA18909,NA18943,NA18945,NA18949,NA18953,NA18956,NA19099 esv271974 20 37735041 37735379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509728,essv2497354,essv2512992,essv2507868,essv2508147,essv2510068,essv2496101,essv2512860,essv2501033,essv2505906,essv2504979,essv2503138,essv2501343,essv2504806,essv2506604,essv2510834,essv2496915,essv2501807,essv2498070,essv2495046 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA18508,NA18545,NA18547,NA18564,NA18579,NA18593,NA18603,NA18609,NA18856,NA18861,NA18942,NA18943,NA19093,NA19099,NA19108,NA19116,NA19190,NA19239,NA19240 esv273163 20 37735043 37735279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580087,essv2580462,essv2579877,essv2581028,essv2579185,essv2579790 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv999433 20 37752363 37762887 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564157 S 3 0 1 "" HuRef esv2499407 20 37770530 37771884 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208040 S 1 0 1 "" NA18507 esv2257068 20 37770871 37771370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666858 S 1 0 1 "" NA18507 dgv96n6 20 37771047 37771198 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179345,nsv179434 M 24 "" esv1009205 20 37771050 37771186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581000 S 3 0 1 "" HuRef esv1602486 20 37771061 37771198 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117828 S 2 0 1 "" HuRef nsv519572 20 37862325 37870483 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656921,nssv686450 M 2026 2 0 "" esv2056543 20 37946468 37946810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990760 S 1 0 1 "" NA18507 nsv178772 20 38057926 38066014 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197350 M 24 "" esv29356 20 38075324 38080438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17916 S 451 0 1 "" NA19190 nsv817894 20 38076193 38078497 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416361 S 112 0 1 "" NA19141 nsv442484 20 38078172 38080421 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv180211 20 38146598 38146886 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198789 M 24 "" nsv912870 20 38147540 38337278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523742 S 6533 0 1 "" SP54177 nsv436322 20 38157443 38332861 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465724 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv833976 20 38231284 38408361 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455091,nssv1455090,nssv1455093,nssv1455092 M 95 2 2 "" nsv179737 20 38302923 38302923 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198315 M 24 "" nsv179573 20 38302927 38302927 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198151 M 24 "" nsv3377 20 38368980 38401897 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5877 S 9 1 0 "" NA19129 esv2200702 20 38373007 38373438 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713418 S 1 0 1 "" NA18507 esv2528851 20 38405672 38407224 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218241 S 1 0 1 "" NA18507 nsv517474 20 38488446 38500329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653997,nssv663400 M 2026 0 2 "" nsv833977 20 38489245 38653425 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455094 S 95 1 0 "" nsv178956 20 38648273 38648395 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197534 M 24 "" esv1006422 20 38700956 38701791 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587139 S 3 0 1 "" HuRef nsv833978 20 38746709 38943638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455095 S 95 1 0 MAFB nsv180697 20 38778135 38780119 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199275 M 24 "" nsv833979 20 38860194 39039880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455096 S 95 1 0 "" esv997082 20 38899164 38911271 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565586 S 3 0 1 "" HuRef esv2449409 20 38901155 38901305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335456 S 1 0 1 "" NA18507 esv22583 20 38963413 38970390 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13899 S 451 0 5 "" NA18517,NA18909,NA18916,NA19108,NA19114 nsv912871 20 38994500 39056697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578963 S 6533 0 1 "" IS34996 nsv3378 20 39027674 39062227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3064 S 9 1 0 "" NA18555 nsv3379 20 39038395 39051966 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7680 S 9 0 1 "" NA12156 esv1007863 20 39044786 39044786 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581915 S 3 1 0 "" HuRef esv1675399 20 39044966 39044966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858312 S 2 1 0 "" HuRef nsv833982 20 39048541 39172885 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455097 S 95 0 1 TOP1 nsv833983 20 39114015 39275069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455098,nssv1455100,nssv1455099 M 95 0 3 PLCG1,TOP1,ZHX3 esv1745872 20 39258556 39258556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097388 S 2 1 0 ZHX3 HuRef nsv833984 20 39301457 39479846 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455101 S 95 0 1 CHD6,EMILIN3,LPIN3,ZHX3 nsv3380 20 39313603 39346181 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6942 S 9 0 1 ZHX3 NA12156 nsv498970 20 39315909 39320127 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585831 S 9 0 1 ZHX3 esv29587 20 39315935 39319596 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18507 S 451 0 1 ZHX3 NA12156 nsv512615 20 39339104 39341209 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625228 S 1 0 1 ZHX3 1 dgv700n67 20 39339762 39340946 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828723,nsv828724 M 31 0 30 ZHX3 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv990825 20 39339762 39340946 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587178 S 3 1 0 ZHX3 HuRef nsv821330 20 39339762 39340946 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420097 S 1 0 1 ZHX3 NA10851 esv27181 20 39339977 39340793 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12282 S 451 1 1 ZHX3 NA12489,NA19129 nsv3381 20 39358740 40199110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2332,nssv7681 M 9 0 2 CHD6,EMILIN3,LPIN3,PTPRT,ZHX3 NA12156,NA18555 dgv245n21 20 39397744 39421666 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527136,nsv516924 M 2026 0 9 LPIN3 nsv180465 20 39440198 39443841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199043 M 24 "" nsv510786 20 39506366 39575813 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619009 S 4 0 1 CHD6 NA10860 esv2460578 20 39568830 39570205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215111 S 1 0 1 CHD6 NA18507 nsv3382 20 39635381 39667400 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4534 S 9 1 0 CHD6 NA12878 nsv178957 20 39641207 39641490 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197535 M 24 CHD6 esv268315 20 39658903 39663930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516480 S 157 1 0 Samples from several populations that are part of the HapMap project. CHD6 NA12814 esv259493 20 39756717 39756989 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394185,essv2393902 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv259891 20 39756729 39757019 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398922,essv2394467,essv2397298,essv2401061,essv2396160,essv2394427,essv2395477,essv2395217 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12045,NA12878,NA12891,NA18523,NA18943,NA18948,NA19108 nsv833985 20 39760108 39943215 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455102 S 95 0 1 "" nsv828725 20 39766947 39770603 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440766 S 31 1 0 "" NA18564 esv259729 20 39767155 39771766 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400839 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18564 esv22661 20 39770462 39773694 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19937 S 451 0 1 "" NA12239 nsv438310 20 39790436 39794267 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470773,nssv470772 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10831,NA12155 nsv912872 20 39839940 39923770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557777 S 6533 0 1 "" MS22858 esv2751913 20 39856396 40702735 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988535,essv6986167,essv6986168,essv6982426 M 771 1 0 PTPRT BEC_44 nsv833986 20 39902316 40061779 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455103,nssv1455104 M 95 2 0 "" nsv518536 20 39965891 39967616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695980 S 2026 0 1 "" dgv246n21 20 40017334 40019859 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527802,nsv525139 M 2026 0 2 "" nsv912873 20 40034435 40109118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559645 S 6533 0 1 "" MS24073 esv995175 20 40132666 40140884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564022 S 3 0 1 PTPRT HuRef nsv180358 20 40275320 40275320 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198936 M 24 PTPRT esv7918 20 40275324 40277739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30359 S 1 0 1 PTPRT SJK esv2256655 20 40340182 40340564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509503 S 1 0 1 PTPRT NA18507 nsv179776 20 40340325 40340376 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198354 M 24 PTPRT esv2232474 20 40376991 40377452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607609 S 1 0 1 PTPRT NA18507 nsv912874 20 40380498 40406363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596429 S 6533 1 0 PTPRT IS40503 nsv523080 20 40383245 40398214 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698771 S 2026 1 0 PTPRT nsv516291 20 40386328 40403504 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667382,nssv673904,nssv697005,nssv685667,nssv667948,nssv695553 M 2026 4 2 PTPRT nsv833987 20 40441077 40618328 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455105 S 95 0 1 PTPRT esv2488032 20 40472159 40473658 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288869 S 1 0 1 PTPRT NA18507 esv989547 20 40571051 40571149 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566937 S 3 0 1 PTPRT HuRef nsv828726 20 40595333 40599612 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435579 S 31 0 1 PTPRT NA18942 esv1938054 20 40603409 40603816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746975 S 1 0 1 PTPRT NA18507 nsv458978 20 40608107 40664177 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535827 S 1557 0 1 PTPRT 1780854449_A nsv912875 20 40608107 40687597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528877,nssv1528385 M 6533 0 2 PTPRT SP81212,SP81386 nsv519654 20 40608107 40688107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660473,nssv694396,nssv657383,nssv658994,nssv660034 M 2026 0 5 PTPRT nsv912876 20 40608107 40730408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559610,nssv1558824 M 6533 0 2 PTPRT MS23566,MS24052 nsv912877 20 40615725 40644160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561129 S 6533 0 1 PTPRT MS24864 dgv247n21 20 40617423 40731107 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526415,nsv528161 M 2026 0 2 PTPRT nsv458979 20 40644160 40676650 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535828 S 1557 0 1 PTPRT 1780854103_A nsv912878 20 40655894 40794838 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598165 S 6533 1 0 PTPRT IS40862 nsv833988 20 40661202 40813335 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455106 S 95 0 1 PTPRT dgv4569n71 20 40662631 40736257 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912881,nsv912882,nsv912886,nsv912888,nsv912887,nsv912879,nsv912880 M 6533 0 11 PTPRT IS32653,SP50672,SP52027,SP53399,SP53440,SP53821,SP54118,SP54217,SP56937,SP57376,SP81533 nsv458981 20 40674114 40724350 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535829 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRT HGDP00135 dgv4570n71 20 40676650 40707077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912883,nsv912884 M 6533 0 3 PTPRT SP52114,SP56549,SP57322 nsv912885 20 40676650 40717809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522962 S 6533 0 1 PTPRT SP53518 dgv1328e1 20 40686319 40710511 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15932,essv10174,esv987 M 271 0 0 PTPRT NA18515,NA18516 nsv817896 20 40688107 40711739 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416515,nssv1416517 M 112 0 2 PTPRT NA18515,NA18516 nsv517647 20 40690870 40711739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652662,nssv688616,nssv668558,nssv660899,nssv685694,nssv667067 M 2026 0 6 PTPRT nsv470552 20 40702735 40731107 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547378 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRT HGDP00356 nsv458982 20 40702735 40736257 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535830 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRT HGDP00356 nsv522445 20 40707077 40713729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705803 S 2026 0 1 PTPRT nsv523956 20 40713729 40724350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699806 S 2026 0 1 PTPRT nsv3383 20 40772303 40801967 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7682 S 9 1 0 PTPRT NA12156 esv2477377 20 40945238 40946163 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295511 S 1 1 0 PTPRT NA18507 esv1402978 20 40945763 40945763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308287 S 2 1 0 PTPRT HuRef nsv912889 20 41042602 41099793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500684 S 6533 0 1 PTPRT SP50183 esv2617939 20 41129727 41130437 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281334 S 1 1 0 PTPRT NA18507 esv2436042 20 41157690 41158451 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344026 S 1 1 0 PTPRT NA18507 esv1713499 20 41157886 41157886 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978424 S 2 1 0 PTPRT HuRef esv1651732 20 41157969 41157969 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788629 S 2 1 0 PTPRT HuRef esv33863 20 41162911 41163648 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100543 S 51 0 1 PTPRT 22298 esv2751914 20 41178000 41323867 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981528,essv6981527,essv6981526,essv6985597,essv6985598 M 771 1 0 PTPRT BEC_293 nsv525353 20 41219453 41220578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701472 S 2026 0 1 PTPRT nsv3384 20 41299043 41331457 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10293 S 9 1 0 "" NA18956 esv7956 20 41361518 41361578 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30397 S 1 1 0 "" SJK esv274220 20 41385494 41386066 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580737 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267475 20 41385503 41386075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558213,essv2565580,essv2576036,essv2571689,essv2546498,essv2521164,essv2526200,essv2544165,essv2570837,essv2545438,essv2577282,essv2570726,essv2576773,essv2525307,essv2553979,essv2552143,essv2547439,essv2529123,essv2564594,essv2577979,essv2565289,essv2564302,essv2561757,essv2537185,essv2528284,essv2546797,essv2569828,essv2523528,essv2541296,essv2534684,essv2549413,essv2559841,essv2522144,essv2531164,essv2528814,essv2572512,essv2562285,essv2578116,essv2555321,essv2533573,essv2567220,essv2573649,essv2525632,essv2526956,essv2545084,essv2560245,essv2549908,essv2571249,essv2536033,essv2548791,essv2533423,essv2563280 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11894,NA11918,NA11992,NA11993,NA12003,NA12043,NA12044,NA12154,NA12156,NA12287,NA12489,NA12717,NA12749,NA12751,NA12761,NA12812,NA12828,NA12874,NA12878,NA12891,NA12892,NA18520,NA18537,NA18545,NA18561,NA18564,NA18570,NA18571,NA18573,NA18579,NA18609,NA18909,NA18940,NA18943,NA18944,NA18947,NA18964,NA18980,NA19005,NA19172,NA19190,NA19225,NA19238 esv259613 20 41387800 41388395 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393719,essv2394066,essv2394284 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv260056 20 41387805 41388401 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396757,essv2398891,essv2396823,essv2396290,essv2399615,essv2394718,essv2395649,essv2397690,essv2399912,essv2396584,essv2399216,essv2395004,essv2398556,essv2396472,essv2399329,essv2395734,essv2400081,essv2394700,essv2397936,essv2398244,essv2395340,essv2400391,essv2399805,essv2396352,essv2398013,essv2398713,essv2399673,essv2397247,essv2395999,essv2397087,essv2400488,essv2394524 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11995,NA12155,NA12716,NA12761,NA18498,NA18501,NA18502,NA18504,NA18507,NA18508,NA18511,NA18516,NA18517,NA18522,NA18853,NA18861,NA18870,NA18907,NA18909,NA18916,NA18960,NA19129,NA19138,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv1003258 20 41418284 41428771 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565782 S 3 0 1 "" HuRef nsv180012 20 41440141 41448353 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198590 M 24 "" nsv512616 20 41457875 41459411 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625229 S 1 0 1 "" 1 esv8054 20 41457933 41459208 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30495 S 1 0 1 "" SJK esv3694 20 41457956 41459304 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26135 S 1 0 1 Single Asian sample YH "" YH esv1004377 20 41458010 41459207 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573551 S 3 0 1 "" HuRef esv1729406 20 41458026 41459224 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853806 S 2 0 1 "" HuRef nsv180182 20 41458027 41459224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198760 M 24 "" esv24022 20 41541037 41544265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9768 S 451 0 1 "" NA19114 nsv179929 20 41552131 41558683 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198507 M 24 "" nsv179227 20 41556607 41558683 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197805 M 24 "" nsv3385 20 41703127 41738961 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2333 S 9 0 1 IFT52,MYBL2 NA18555 esv2470167 20 41704536 41708640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254550 S 1 0 1 IFT52 NA18507 nsv512617 20 41704826 41708357 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625230 S 1 0 1 IFT52 1 nsv498971 20 41705278 41708038 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585832 S 9 0 1 IFT52 nsv514938 20 41705572 41707264 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627199 S 1414 0 0 IFT52 esv1009985 20 41705581 41707310 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586071 S 3 1 0 IFT52 HuRef esv23525 20 41705581 41707310 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18406 S 451 16 0 IFT52 NA07045,NA12156,NA12239,NA12414,NA12878,NA18502,NA18505,NA18508,NA18861,NA18907,NA18909,NA19114,NA19129,NA19147,NA19240,NA19257 nsv821137 20 41705581 41707310 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420098 S 1 0 1 IFT52 NA10851 esv2606313 20 41758186 41759153 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226934 S 1 1 0 MYBL2 NA18507 esv259941 20 41758484 41759187 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394924,essv2400615,essv2400448,essv2396840 M 144 0 0 Samples from several populations that are part of the HapMap project. MYBL2 NA18545,NA18576,NA18592,NA18638 nsv180297 20 41768788 41769235 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198875 M 24 MYBL2 nsv833989 20 41808847 42009673 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455107 S 95 0 1 TOX2 nsv179007 20 41846443 41847604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197585 M 24 "" nsv510488 20 41853162 41859162 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618457 S 4 0 1 "" CHM nsv523407 20 41904898 41910498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699158 S 2026 0 1 "" nsv512618 20 41914321 41917284 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625231 S 1 0 1 "" 1 esv26449 20 41914857 41917438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11590 S 451 0 10 "" NA06985,NA07045,NA11894,NA11995,NA12006,NA12287,NA12749,NA12828,NA12878,NA19129 dgv701n67 20 41915835 41917182 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828728,nsv828727 M 31 0 5 "" AK18,NA18542,NA18552,NA18968,NA18997 nsv828729 20 41916604 41917182 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422463,nssv1430269,nssv1428761,nssv1431031,nssv1433365 M 31 0 5 "" AK10,AK14,AK16,NA18969,NA18972 esv995964 20 41966470 41967056 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587035 S 3 1 0 "" HuRef esv1006545 20 41976366 41980253 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565644 S 3 1 0 TOX2 HuRef nsv509770 20 42059479 42089190 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621124 S 4 1 0 TOX2 NA15510 nsv524229 20 42060518 42063880 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700118 S 2026 1 0 TOX2 esv1000157 20 42085545 42088503 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565336 S 3 1 0 TOX2 HuRef esv1140542 20 42087582 42087582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056034 S 2 1 0 TOX2 HuRef esv2487128 20 42109076 42110647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361869 S 1 0 1 TOX2 NA18507 esv1996686 20 42109356 42110128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820912 S 1 0 1 TOX2 NA18507 esv5288 20 42109478 42109989 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27729 S 1 0 1 Single Asian sample YH TOX2 YH dgv97n6 20 42109540 42109941 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179271,nsv180359 M 24 TOX2 esv1002187 20 42109542 42109940 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582255 S 3 0 1 TOX2 HuRef esv1734532 20 42109542 42109941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594740 S 2 0 1 TOX2 HuRef esv8556 20 42109549 42109940 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30997 S 1 0 1 TOX2 SJK nsv3386 20 42121857 42135634 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7683 S 9 0 1 TOX2 NA12156 nsv521587 20 42151620 42158000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698204 S 2026 0 1 "" nsv521093 20 42153551 42158000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687987,nssv681910,nssv698634 M 2026 0 3 "" nsv912890 20 42183738 42275207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596773 S 6533 0 1 C20orf111,JPH2,LOC100505783 IS40635 esv1288244 20 42195954 42196080 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163073 S 2 0 1 JPH2 HuRef esv1407305 20 42196299 42196299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925268 S 2 1 0 JPH2 HuRef nsv178769 20 42196360 42196775 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197347 M 24 JPH2 nsv179208 20 42219873 42219943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197786 M 24 JPH2 nsv507908 20 42267766 42273766 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623306 S 4 1 0 C20orf111,LOC100505783 NA18994 dgv98n6 20 42277832 42282267 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179392,nsv178849 M 24 LOC100505783 nsv458983 20 42278543 42291190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535831 S 1557 0 1 LOC100505783 NINDS_45 esv28837 20 42326818 42327936 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16203 S 451 0 1 GDAP1L1 NA19190 nsv3388 20 42328480 42358583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5878 S 9 1 0 GDAP1L1 NA19129 nsv180617 20 42346742 42353609 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199195 M 24 "" nsv3389 20 42366483 42400968 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4535 S 9 1 0 FITM2,R3HDML NA12878 esv2504273 20 42466747 42467366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270465 S 1 1 0 HNF4A NA18507 nsv819556 20 42466777 42467133 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418903 S 2 1 0 HNF4A AK1 nsv3390 20 42703012 42769954 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1604,nssv7684 M 9 0 2 ADA,LOC79015 NA12156,NA19240 nsv498972 20 42708514 42711723 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585833 S 9 0 1 ADA esv24506 20 42708543 42711708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18748 S 451 0 1 ADA NA19240 nsv3391 20 42720647 42774937 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1605,nssv6943 M 9 2 0 LOC79015 NA12156,NA19240 nsv511626 20 42729552 42742692 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626259 S 1 0 1 LOC79015 1 esv274564 20 42738857 42740502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579299,essv2579761 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv512619 20 42739021 42742594 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625233 S 1 0 1 "" 1 esv21756 20 42739045 42742188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11200,esv19250 M 451 0 11 "" NA07037,NA11995,NA12004,NA12006,NA12239,NA18502,NA18508,NA18523,NA18858,NA18907,NA19108 esv1005005 20 42739419 42742188 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586185 S 3 0 1 "" HuRef nsv514939 20 42740744 42741568 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628351 S 1414 0 1 "" nsv513714 20 42745283 42745590 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626966 S 1 0 0 "" 1 nsv828730 20 42760153 42762607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422306 S 31 0 1 "" NA18997 nsv436313 20 42760299 42762978 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465725 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22728 20 42760735 42762946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15755 S 451 0 7 "" NA18508,NA18909,NA18916,NA19114,NA19147,NA19225,NA19240 nsv458985 20 42768988 42841844 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535833 S 1557 1 0 KCNK15,RIMS4,WISP2 NINDS_91 nsv179790 20 42783593 42793509 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198368 M 24 WISP2 esv1001878 20 42786062 42786522 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587056 S 3 1 0 WISP2 HuRef nsv3392 20 42909384 42937701 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9866 S 9 1 0 "" NA18507 esv2341426 20 42918769 42919166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754210 S 1 0 1 "" NA18507 nsv525844 20 42919355 42919440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702037 S 2026 0 1 "" nsv518547 20 42959551 43004425 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695990 S 2026 1 0 PABPC1L,TOMM34,YWHAB nsv179332 20 43120144 43128236 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197910 M 24 STK4 nsv482068 20 43269088 43271822 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558429 S 1 1 0 SEMG1 KB1 esv275257 20 43304485 43308256 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585295 S 1250 0 1 "" esv1328867 20 43330053 43330102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712024 S 2 0 1 "" HuRef nsv912891 20 43346731 43384230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510399 S 6533 0 1 MATN4,RBPJL SP54956 nsv912892 20 43478984 43574438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568552 S 6533 0 1 PIGT,WFDC2 IS31302 nsv828732 20 43489819 43492100 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433366 S 31 0 1 "" NA18972 nsv525186 20 43555444 43557963 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701264 S 2026 0 1 "" nsv819057 20 43617751 43617953 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419137 S 2 1 0 WFDC8 AK1 esv25639 20 43637651 43640716 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19442 S 451 0 1 WFDC8 NA07045 esv32588 20 43637797 43641213 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97898,essv99874,essv94232 M 51 0 3 WFDC8 21837,22086,22394 nsv7342 20 43669317 43696917 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5879 S 9 0 0 WFDC10A,WFDC9 NA19129 nsv912893 20 43692963 43737585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513204 S 6533 0 1 WFDC10A,WFDC11,WFDC9 SP55694 nsv525287 20 43765712 43766466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701392 S 2026 0 1 WFDC10B,WFDC13 esv2751915 20 43770130 43811618 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989753,essv6983205 M 771 0 1 SPINT4,WFDC13 BEC_555 nsv458986 20 43771100 43811984 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535834 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPINT4 HGDP00522 esv274125 20 43778208 43778293 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581255 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv33602 20 43784136 43812280 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98893,essv92783,essv100025,essv94209 M 51 0 4 SPINT4 21606,21944,22086,22394 esv2751916 20 43784345 43833858 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981008,essv6981009 M 771 0 1 SPINT4 BEC_336 esv24579 20 43784951 43786181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17690,esv16424,esv13000 M 451 0 7 SPINT4 NA12489,NA18505,NA18511,NA18523,NA18858,NA19108,NA19225 nsv514940 20 43785288 43786056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627200 S 1414 0 0 SPINT4 esv23805 20 43786225 43805423 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12938 S 451 1 0 SPINT4 NA18505 dgv512n27 20 43788634 43811984 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv458991,nsv458990,nsv458992,nsv458989,nsv458987,nsv458988 M 1557 0 6 "" HGDP00795,HGDP00797,HGDP00799,HGDP00806,HGDP01079,HGDP01376 nsv517420 20 43788634 43811984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670540,nssv692783,nssv664527,nssv677791,nssv658933,nssv691524,nssv666368,nssv651968,nssv670736,nssv671022,nssv689180,nssv678349,nssv676825,nssv659051 M 2026 0 14 "" esv2389373 20 43792635 43793126 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622945 S 1 0 1 "" NA18507 esv1741816 20 43792819 43792931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596063 S 2 0 1 "" HuRef esv1378902 20 43801111 43801111 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751521 S 2 1 0 "" HuRef esv1159745 20 43801196 43801196 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272706 S 2 1 0 "" HuRef nsv833990 20 43833556 44008890 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455109,nssv1455108 M 95 0 2 ACOT8,C20orf165,CTSA,DNTTIP1,NEURL2,PCIF1,PLTP,SNX21,TNNC2,UBE2C,WFDC3,ZSWIM1,ZSWIM3 esv2264691 20 43835819 43836172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549480 S 1 0 1 "" NA18507 esv1297923 20 43835971 43836092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873948 S 2 0 1 "" HuRef esv270391 20 43864790 43865222 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493181,essv2505213,essv2507244,essv2493846,essv2501936,essv2498092 M 157 6 0 Samples from several populations that are part of the HapMap project. DNTTIP1 NA18504,NA18853,NA18870,NA19210,NA19239,NA19240 esv273747 20 43864886 43865235 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580072,essv2580384,essv2579888,essv2580515 M 7 4 0 Samples from several populations that are part of the HapMap project. DNTTIP1 NA12878,NA12891,NA12892,NA19238 nsv458993 20 43904633 43942281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535841 S 1557 0 1 ACOT8,SNX21,ZSWIM3 1780862380_A nsv517296 20 43916632 44027982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698230,nssv653797,nssv688087,nssv674095,nssv661151,nssv692213,nssv662766 M 2026 0 7 ACOT8,C20orf165,CTSA,NEURL2,PCIF1,PLTP,ZNF335,ZSWIM1,ZSWIM3 nsv179037 20 43932092 43932385 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197615 M 24 ZSWIM3 nsv833991 20 43947677 44130754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455110 S 95 0 1 C20orf165,CTSA,MMP9,NCOA5,NEURL2,PCIF1,PLTP,SLC12A5,ZNF335 nsv482069 20 43950674 43953308 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558430 S 1 1 0 CTSA,NEURL2 KB1 nsv912894 20 43964310 43966992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503586 S 6533 1 0 PLTP SP52077 nsv3393 20 43965159 43975272 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7685 S 9 0 1 PLTP NA12156 dgv4571n71 20 43988093 44038312 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912898,nsv912895 M 6533 0 2 PCIF1,ZNF335 MS10311,MS18276 nsv912896 20 43988093 44057504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573991 S 6533 0 1 PCIF1,ZNF335 IS33504 nsv912897 20 43988932 44007645 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510400 S 6533 0 1 PCIF1 SP54956 esv8950 20 43999913 43999984 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31391 S 1 1 0 PCIF1 SJK esv1000107 20 44013048 44019739 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563896 S 3 0 1 ZNF335 HuRef nsv180559 20 44024861 44032803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199137 M 24 ZNF335 dgv1329e1 20 44126322 44398283 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv653,essv8803,essv10380,essv1832,essv3006,essv12453,essv23927,essv1252,essv10738,essv9249,essv18639,essv23195,essv22043,essv22134,essv22671,essv9444,essv7118,essv7701,essv9972,essv7779,essv3085,essv19778,essv7539,essv23361,essv13181,essv20208,essv24471,essv19195,essv7334,essv4813,essv21708,essv5368,essv15556,essv22305,essv23679,essv15686,essv16634,essv23469,essv11033,essv9886,essv22903,essv11879,essv11694,essv20421,essv7232,essv14352,essv22999,essv11775,essv8949,essv4379,essv21026,essv14556,essv4068,essv6271,essv14188,essv20631,essv4986,essv13435,essv17611,esv254,essv24518,essv9313,essv8117,essv11224,essv10657,essv16156,essv6343,essv24588,essv13015,essv10938,essv14116,essv2016,essv17088,essv18118,essv1187,essv18331,essv15021,essv16792,essv7424,essv9673,essv9786,essv17185,essv12697,essv2336,essv11562,essv22766,essv6818,essv24154,essv21755,essv15288,essv12653,essv21448,essv14413,essv13535,essv21234,essv16009,essv18288,essv3776,essv23614,essv1150,essv6011,essv2262,essv22596,essv2636,essv16845,essv137,essv15532,essv3960,essv10310 M 271 0 0 CD40,CDH22,NCOA5 NA06985,NA06991,NA07019,NA07034,NA07056,NA07348,NA07357,NA10830,NA10835,NA10846,NA10847,NA10857,NA10863,NA11830,NA11832,NA11992,NA11993,NA11994,NA12006,NA12056,NA12154,NA12156,NA12234,NA12239,NA12248,NA12717,NA12750,NA12752,NA12753,NA12760,NA12802,NA12814,NA12865,NA18500,NA18501,NA18504,NA18505,NA18506,NA18508,NA18523,NA18537,NA18542,NA18545,NA18547,NA18563,NA18570,NA18571,NA18573,NA18579,NA18609,NA18620,NA18623,NA18633,NA18635,NA18636,NA18637,NA18853,NA18855,NA18859,NA18861,NA18863,NA18870,NA18872,NA18912,NA18913,NA18914,NA18940,NA18949,NA18951,NA18961,NA18964,NA18966,NA18967,NA18968,NA18969,NA18970,NA18975,NA18976,NA18981,NA18995,NA19094,NA19099,NA19100,NA19102,NA19128,NA19137,NA19140,NA19142,NA19143,NA19145,NA19154,NA19160,NA19171,NA19172,NA19173,NA19192,NA19194,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19221,NA19222 nsv833993 20 44153298 44352061 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455111 S 95 1 0 CD40,CDH22 esv7687 20 44202957 44203033 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30128 S 1 1 0 "" SJK dgv1330e1 20 44219283 44398283 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11110,essv20642,essv4121,essv7820,essv13072,essv13834,essv8383,essv16277,essv14728,essv10872 M 271 0 0 CDH22 NA12892,NA18555,NA18558,NA18852,NA18854,NA18858,NA18871,NA19159,NA19161,NA19211 esv25630 20 44225509 44227289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11012 S 451 0 2 "" NA11995,NA12828 nsv3394 20 44356310 44405434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5880,nssv4536 M 9 2 0 "" NA12878,NA19129 esv27173 20 44359543 44361433 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16912 S 451 0 1 "" NA18858 nsv9810 20 44368003 44395132 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28647 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv9811 20 44395132 44397472 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27676 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv912899 20 44395879 44424241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547052 S 6533 0 1 SLC35C2 MS17208 nsv520289 20 44402546 44403507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686183,nssv662430 M 2026 0 2 "" nsv820217 20 44431218 44433535 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419417 S 2 0 1 ELMO2 AK1 dgv99n6 20 44482100 44482182 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv179816,nsv179488 M 24 "" nsv833994 20 44504162 44742256 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455112 S 95 1 0 C20orf123,MKRN7P,SLC13A3,ZNF334 nsv912900 20 44649420 44668241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536059 S 6533 0 1 SLC13A3 MS12608 esv34663 20 44672300 44709100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979410,essv6990362 M 771 1 0 SLC13A3 NA18547 nsv509771 20 44676909 44721010 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621125 S 4 1 0 SLC13A3 NA15510 esv6676 20 44677078 44677130 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29117 S 1 1 0 SLC13A3 SJK nsv828733 20 44678825 44709144 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423447 S 31 1 0 SLC13A3 NA18547 dgv1331e1 20 44681417 44722596 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7627,esv1393 M 271 0 0 SLC13A3 NA18547 nsv9812 20 44695122 44697227 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26927 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC13A3 NA12155 esv32661 20 44695573 44725930 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100029 S 51 1 0 SLC13A3 22086 nsv179106 20 44718315 44718413 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197684 M 24 SLC13A3 nsv179609 20 44718487 44718587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198187 M 24 SLC13A3 nsv912901 20 44738942 44776644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502442 S 6533 0 1 SLC13A3,SLC2A10,TP53RK SP51175 esv5035 20 44813071 44813560 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27476 S 1 0 1 Single Asian sample YH "" YH esv1004264 20 44848906 44851799 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564222 S 3 1 0 "" HuRef esv1669704 20 44851399 44851399 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804312 S 2 1 0 "" HuRef nsv3395 20 44852738 44880558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4537 S 9 1 0 "" NA12878 nsv516678 20 44864872 44867806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670100,nssv662277 M 2026 0 2 "" nsv458994 20 44874005 44883862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535842 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01405 dgv4572n71 20 44874005 44985582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912902,nsv912903 M 6533 0 2 EYA2 IS40657,MS22353 nsv510787 20 44885897 44944064 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619010 S 4 0 1 "" NA10860 nsv510788 20 44946611 45052294 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619011 S 4 0 1 EYA2 NA10860 dgv4573n71 20 44968069 45013119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912904,nsv912905 M 6533 0 2 EYA2 MS19159,MS25750 nsv912906 20 44990743 45013119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532613 S 6533 0 1 EYA2 MS10790 nsv179078 20 45174936 45175902 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197656 M 24 EYA2 dgv1332e1 20 45195752 45227374 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1076,esv1025 M 271 0 0 EYA2 NA18990 nsv178722 20 45197888 45198787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197300 M 24 EYA2 esv33497 20 45205485 45713113 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98858,essv99824 M 51 0 2 EYA2,LOC100131496,MIR3616,NCOA3,ZMYND8 21606,22086 esv2421702 20 45213513 45222336 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5110332,essv5007444,essv5147683,essv5093577,essv5085836,essv5025624,essv5052326,essv5046517,essv5006998,essv5102221,essv5076109,essv5135366,essv5050000,essv5030317,essv5137005,essv5011619,essv5078585,essv5031999,essv5059408,essv5077976,essv5051913,essv5159333,essv5052099,essv5040687,essv5056489,essv5093168,essv5016806,essv5055246,essv5130650,essv5020689,essv5035079,essv5129378 M 1184 0 32 EYA2 NA17962,NA17977,NA17981,NA17986,NA17987,NA17990,NA18112,NA18128,NA18141,NA18143,NA18158,NA18536,NA18542,NA18576,NA18619,NA18622,NA18628,NA18636,NA18637,NA18643,NA18670,NA18694,NA18740,NA18945,NA18987,NA18990,NA18993,NA19000,NA19066,NA20856,NA20909,NA21111 nsv442781 20 45213513 45222336 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EYA2 nsv828734 20 45213744 45220404 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437151 S 31 0 1 EYA2 NA18542 esv990338 20 45264436 45272081 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564524 S 3 0 1 ZMYND8 HuRef esv2484552 20 45452122 45453646 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243253 S 1 0 1 "" NA18507 nsv179823 20 45452486 45452811 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198401 M 24 "" nsv912907 20 45477389 45574886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520953 S 6533 1 0 NCOA3 SP51342 nsv912908 20 45496122 45641776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591916 S 6533 1 0 NCOA3 IS39095 nsv510489 20 45555192 45561192 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621500,nssv624247 M 4 0 2 "" NA15510,NA18994 nsv833995 20 45612186 45756815 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455113 S 95 0 1 NCOA3,SULF2 nsv509772 20 45613397 45636728 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618136 S 4 1 0 NCOA3 CHM nsv527945 20 45669601 45695524 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704453 S 2026 0 1 NCOA3 dgv100n6 20 45683823 45692607 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv178815,nsv178796 M 24 NCOA3 dgv1333e1 20 45701817 45957486 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22351,essv17899,essv14631,esv189 M 271 0 0 NCOA3,SULF2 NA06985,NA12003,NA19093 nsv513547 20 45732337 45733315 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625962 S 1 1 0 SULF2 1 esv2650626 20 45732620 45733110 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359726 S 1 1 0 SULF2 NA18507 nsv3396 20 45750967 45753566 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5881 S 9 1 0 SULF2 NA19129 nsv524279 20 45788727 45788999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700178 S 2026 0 1 SULF2 nsv3397 20 45824344 45869303 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7686 S 9 0 1 SULF2 NA12156 nsv469534 20 45844437 46013738 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649643 M 265 0 2 Samples from several populations that are part of the HapMap project. SULF2 nsv7344 20 45855694 45961306 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10295,nssv2335,nssv4540,nssv4538 M 9 0 0 "" NA12878,NA18555,NA18956 nsv509773 20 45870923 46061711 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623828,nssv619844,nssv619845,nssv621126,nssv621127,nssv623829 M 4 3 0 "" NA10860,NA15510,NA18994 nsv3399 20 45877338 45910900 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2334,nssv4539,nssv11037,nssv7687,nssv5882 M 9 5 0 "" NA12156,NA12878,NA15510,NA18555,NA19129 nsv9814 20 45883696 45889895 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22669,nssv27684,nssv25647 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18517,NA18572,NA19007 nsv186 20 45889365 45905922 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv186 S 1 1 0 "" NA15510 nsv912909 20 45890171 46011510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505673 S 6533 1 0 "" SP53821 nsv458999 20 45890171 46574928 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535846 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC284749 HGDP01412 esv1230209 20 45896827 45896827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028912 S 2 1 0 "" HuRef nsv524004 20 45900322 46553388 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699864 S 2026 1 0 LOC284749 esv9124 20 45900619 45953203 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31565 S 1 0 0 "" SJK nsv912910 20 45903393 46097891 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500465 S 6533 1 0 "" SP50103 nsv3400 20 45941354 45978343 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5883,nssv10297,nssv11038,nssv9599,nssv1606,nssv4541,nssv6944,nssv2336 M 9 8 0 "" NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv470553 20 45942280 46537021 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547380 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC284749 HGDP01412 nsv187 20 45949231 45973361 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv187 S 1 1 0 "" NA15510 esv21746 20 45956880 45958135 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12632 S 451 4 0 "" NA06985,NA12489,NA19099,NA19108 nsv821000 20 45956880 45958135 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420099 S 1 1 0 "" NA10851 nsv499236 20 45956882 45958218 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585616 S 9 1 0 "" esv1588874 20 45956924 45956924 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025003 S 2 1 0 "" HuRef esv3589 20 45956933 46566216 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26030 S 1 0 0 Single Asian sample YH LOC284749 YH nsv436861 20 45956996 45957103 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465726 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1756211 20 45957012 45957012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288018 S 2 1 0 "" HuRef esv1495885 20 45957950 45957950 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931305 S 2 1 0 "" HuRef nsv833996 20 45976880 45997244 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455119,nssv1455118,nssv1455114,nssv1455115,nssv1455117,nssv1455116 M 95 0 6 "" nsv3401 20 45985729 46017826 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6945 S 9 1 0 "" NA12156 nsv819340 20 46128189 46128559 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418922 S 2 0 1 "" AK1 esv25687 20 46186528 46188423 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12726 S 451 1 0 "" NA12489 esv1287903 20 46187174 46187174 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164586 S 2 1 0 "" HuRef nsv833997 20 46237249 46425541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455120 S 95 1 0 LOC284749 nsv912911 20 46250307 46278473 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548284 S 6533 1 0 "" MS17785 esv6435 20 46251114 46251175 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28876 S 1 1 0 "" SJK nsv3402 20 46257255 46282261 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7689 S 9 1 0 "" NA12156 dgv4574n71 20 46262640 46278473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912913,nsv912912 M 6533 0 2 "" MS16153,MS17208 nsv524493 20 46273522 46275358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700431 S 2026 0 1 "" nsv516747 20 46274406 46274704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694034,nssv693412,nssv662022,nssv670614,nssv655265 M 2026 0 5 "" nsv518088 20 46274704 46278473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695501 S 2026 0 1 "" nsv3403 20 46381023 46414615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5884 S 9 1 0 "" NA19129 nsv438311 20 46386093 46412796 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470775 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA07034 nsv178590 20 46447732 46447795 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197168 M 24 "" esv1038963 20 46453241 46453313 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693675 S 2 0 1 "" HuRef nsv3404 20 46485481 46494931 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1607 S 9 1 0 "" NA19240 nsv179041 20 46494693 46494758 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197619 M 24 "" nsv3405 20 46505917 46537589 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10298 S 9 1 0 "" NA18956 esv23024 20 46533765 46536895 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13662,esv18519 M 451 0 5 "" NA18502,NA18511,NA18858,NA18909,NA19129 nsv518631 20 46537021 46553388 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696081 S 2026 0 1 "" esv1974818 20 46548660 46549046 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928375 S 1 0 1 "" NA18507 nsv9815 20 46549463 46555527 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25119 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 nsv3406 20 46555967 46574360 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9867,nssv2337,nssv1608,nssv10299,nssv6946,nssv9366,nssv4542,nssv11039,nssv5885 M 9 9 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv1006023 20 46558603 46566706 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563679 S 3 1 0 "" HuRef esv22949 20 46561261 46566329 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13892,esv13940 M 451 4 1 "" NA12489,NA15510,NA18858,NA19099,NA19108 nsv509774 20 46564002 46586482 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621128,nssv623830,nssv619846 M 4 3 0 "" NA10860,NA15510,NA18994 nsv188 20 46564083 46569855 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv188 S 1 1 0 "" NA15510 dgv34n47 20 46564729 46566390 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499380,nsv499143 M 9 2 0 "" esv1268511 20 46565146 46565146 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943410 S 2 1 0 "" HuRef esv1229871 20 46565314 46565314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896114 S 2 1 0 "" HuRef esv8557 20 46565335 46566092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30998 S 1 0 1 "" SJK esv1555893 20 46565545 46565545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876549 S 2 1 0 "" HuRef nsv833998 20 46630727 46821683 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455121 S 95 0 1 PREX1 nsv819715 20 46638737 46638758 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418905 S 2 1 0 "" AK1 nsv828735 20 46674903 46675354 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422474 S 31 1 0 PREX1 NA18969 nsv525312 20 46681464 46807465 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701420 S 2026 0 1 PREX1 nsv178670 20 46684003 46684119 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197248 M 24 PREX1 nsv3407 20 46842218 46875489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7690 S 9 1 0 PREX1 NA12156 esv991815 20 46846380 46856166 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565178 S 3 0 1 PREX1 HuRef nsv3408 20 46904799 46943233 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7691 S 9 0 1 "" NA12156 nsv512620 20 46920157 46922178 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625234 S 1 0 1 "" 1 esv2465439 20 46920320 46922219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389155 S 1 0 1 "" NA18507 esv1603909 20 46920920 46921528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194372 S 2 0 1 "" HuRef nsv516979 20 46932528 46933482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657299,nssv665450,nssv684027,nssv672929,nssv669973,nssv653545,nssv668592,nssv675263,nssv683621,nssv664086,nssv693289 M 2026 0 11 "" nsv817897 20 46932528 46933482 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418239,nssv1418240 M 112 0 2 "" NA19144,NA19145 esv2616333 20 47009127 47010032 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240484 S 1 1 0 ARFGEF2 NA18507 nsv3411 20 47050011 47083286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2338 S 9 1 0 ARFGEF2 NA18555 esv2544885 20 47157356 47158860 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241347 S 1 0 1 "" NA18507 esv1171144 20 47158085 47158412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146543 S 2 0 1 "" HuRef nsv435739 20 47232975 47236460 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465727 S 2 0 1 STAU1 NA15510 nsv179541 20 47250555 47250988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198119 M 24 "" esv1336829 20 47307934 47308310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909104 S 2 0 1 ZNFX1 HuRef nsv437839 20 47320091 47337550 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467720 S 60 0 1 Samples from several populations that are part of the HapMap project. SNORD12,SNORD12B,SNORD12C,ZNFX1,ZNFX1-AS1 NA19139 esv259626 20 47375482 47375766 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394187,essv2393798,essv2393676 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv259879 20 47375486 47375776 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396766,essv2400196,essv2395274,essv2399821,essv2398065,essv2399364,essv2398653,essv2399741,essv2397291,essv2396897,essv2399235,essv2399475,essv2396204,essv2395904,essv2398136,essv2398038,essv2399698,essv2396005 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA11918,NA11994,NA12144,NA12287,NA12489,NA12828,NA12878,NA12892,NA18508,NA18858,NA18944,NA18945,NA18949,NA19147,NA19210,NA19238 nsv509775 20 47460965 47537760 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621129 S 4 1 0 KCNB1 NA15510 nsv912914 20 47467238 47513437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539550 S 6533 0 1 KCNB1 MS14359 nsv527882 20 47495219 47499266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704384 S 2026 0 1 KCNB1 nsv459001 20 47521405 47527997 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535847 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNB1 HGDP00491 nsv3412 20 47635611 47637674 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3065 S 9 1 0 "" NA18555 nsv819562 20 47683254 47683640 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418931 S 2 0 1 B4GALT5 AK1 nsv912915 20 47924665 48042711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547054 S 6533 0 1 RNF114,SLC9A8,SNAI1,SPATA2 MS17208 esv2126707 20 47976954 47977393 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862664 S 1 0 1 "" NA18507 esv2600188 20 47977143 47977222 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373312 S 1 0 1 "" NA18507 nsv179124 20 47977143 47977222 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197702 M 24 "" esv1359899 20 47977144 47977224 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913807 S 2 0 1 "" HuRef esv1164349 20 48013437 48013437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749189 S 2 1 0 "" HuRef nsv509776 20 48023111 48096946 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621130 S 4 1 0 SNAI1 NA15510 nsv3413 20 48067870 48098739 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10300 S 9 1 0 "" NA18956 nsv524178 20 48083796 48088423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700059 S 2026 0 1 "" nsv833999 20 48087051 48168375 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455122 S 95 0 1 TMEM189-UBE2V1,UBE2V1 nsv834000 20 48087051 48213089 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455124,nssv1455125,nssv1455123 M 95 2 1 TMEM189,TMEM189-UBE2V1,UBE2V1 esv34129 20 48182854 48354523 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CEBPB,LOC284751,TMEM189,TMEM189-UBE2V1 esv2534142 20 48205880 48207599 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325167 S 1 0 1 "" NA18507 esv1698889 20 48206198 48206515 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3900839 S 2 0 1 "" HuRef nsv178678 20 48206199 48206515 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197256 M 24 "" nsv912916 20 48236776 48251441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510401,nssv1508987,nssv1508067 M 6533 0 3 CEBPB SP54657,SP54672,SP54956 nsv828736 20 48238984 48243094 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434112 S 31 1 0 CEBPB NA18526 dgv702n67 20 48240007 48242734 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828738,nsv828737 M 31 2 0 CEBPB AK6,NA18542 nsv912917 20 48245534 48328279 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579037 S 6533 0 1 "" IS35007 nsv521389 20 48263672 48272926 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697999 S 2026 0 1 "" esv1015985 20 48308437 48308437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194125 S 2 1 0 "" HuRef nsv912918 20 48309838 48336441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563902 S 6533 0 1 "" IS30127 nsv912919 20 48309838 48358546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575215 S 6533 0 1 LOC284751 IS33684 esv2369806 20 48350842 48351328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926337 S 1 0 1 LOC284751 NA18507 esv5287 20 48350955 48351438 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27728 S 1 0 1 Single Asian sample YH LOC284751 YH nsv522713 20 48481160 48481847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698343 S 2026 0 1 "" nsv524210 20 48481160 48482656 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700097 S 2026 0 1 "" nsv180508 20 48502021 48502077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199086 M 24 "" nsv179421 20 48547599 48548527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197999 M 24 "" esv1002485 20 48659928 48660008 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574219 S 3 0 1 FAM65C HuRef nsv834001 20 48675561 48870362 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455128,nssv1455126,nssv1455127 M 95 0 3 BCAS4,FAM65C,PARD6B esv1006667 20 48687900 48695396 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564602 S 3 0 1 "" HuRef esv1383548 20 48716135 48716135 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014997 S 2 1 0 "" HuRef nsv179512 20 48749247 48756928 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198090 M 24 "" nsv523874 20 48757788 48828918 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699716 S 2026 1 0 PARD6B nsv834002 20 48860179 49036708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455130,nssv1455129 M 95 0 2 ADNP,BCAS4,DPM1,MOCS3 nsv513548 20 48866583 48866908 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625963 S 1 1 0 BCAS4 1 nsv518896 20 48888318 48927277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696355 S 2026 0 1 BCAS4 esv996532 20 48903612 48903612 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569044 S 3 1 0 BCAS4 HuRef esv1413515 20 48903639 48903639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134205 S 2 1 0 BCAS4 HuRef esv32763 20 49039203 49047797 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99884 S 51 0 1 "" 22086 nsv179741 20 49045737 49047880 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198319 M 24 "" nsv912920 20 49047136 49073584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510402 S 6533 0 1 KCNG1 SP54956 esv33318 20 49058203 49058998 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101475 S 51 1 0 KCNG1 21603 esv33244 20 49058998 49059088 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95587,essv94176 M 51 2 0 KCNG1 21841,22394 esv32899 20 49059088 49062482 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101589 S 51 1 0 KCNG1 21603 nsv3414 20 49070770 49102830 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2339 S 9 1 0 KCNG1 NA18555 esv2751917 20 49102100 49648347 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988589,essv6982820,essv6982821,essv6982822,essv6986273 M 771 1 0 ATP9A,MIR3194,NFATC2 BEC_601 nsv459003 20 49166946 49194603 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535848 S 1557 0 1 "" 1780854341_A esv273134 20 49219929 49220301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580063 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv3415 20 49332842 49365695 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2340 S 9 1 0 "" NA18555 esv2245463 20 49407749 49408135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671969 S 1 0 1 "" NA18507 esv996964 20 49424016 49428916 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563778 S 3 0 1 "" HuRef esv8060 20 49435714 49435817 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30501 S 1 1 0 "" SJK esv2534215 20 49550075 49551242 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305466 S 1 1 0 NFATC2 NA18507 nsv912921 20 49552249 49588531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577440 S 6533 0 1 NFATC2 IS34440 nsv834004 20 49641774 49800993 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455131 S 95 0 1 ATP9A dgv1334e1 20 49756024 49852802 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7974,esv1021 M 271 0 0 ATP9A,SALL4 NA19240 nsv527764 20 49763111 49765750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704252 S 2026 0 1 ATP9A esv274686 20 49782566 49782922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579130,essv2579560 M 7 2 0 Samples from several populations that are part of the HapMap project. ATP9A NA19239,NA19240 esv268229 20 49782567 49782913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510220,essv2511399,essv2502595,essv2494127,essv2496506,essv2496239,essv2506240,essv2500911,essv2509330,essv2506636,essv2510815,essv2496991,essv2501789,essv2498189,essv2502186,essv2503904 M 157 16 0 Samples from several populations that are part of the HapMap project. ATP9A NA07037,NA10851,NA11920,NA12750,NA18502,NA18510,NA18511,NA18523,NA18856,NA18909,NA19108,NA19116,NA19190,NA19239,NA19240,NA19257 esv2501264 20 49790042 49790844 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216000 S 1 1 0 ATP9A NA18507 nsv513549 20 49790158 49790356 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625964 S 1 1 0 ATP9A 1 esv1250125 20 49790506 49790506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023863 S 2 1 0 ATP9A HuRef dgv703n67 20 49814864 49821201 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828740,nsv828739 M 31 2 0 ATP9A NA18526,NA18947 nsv9816 20 49816867 49819462 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21965,nssv25925,nssv27181,nssv27784,nssv22331 M 31 5 0 Samples from several populations that are part of the HapMap project. ATP9A NA10847,NA12740,NA12872,NA18502,NA18504 nsv912922 20 49860267 49944056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556762 S 6533 0 1 "" MS22146 dgv4575n71 20 49881324 49944056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912925,nsv912923 M 6533 0 2 "" IS30171,IS30435 nsv912924 20 49885125 50069473 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535118 S 6533 1 0 "" MS12018 nsv518686 20 49892937 49894738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696139 S 2026 0 1 "" nsv912926 20 49917409 49993059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554982 S 6533 0 1 "" MS21124 nsv179096 20 49935817 49943765 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197674 M 24 "" nsv912927 20 49947533 49993059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544469 S 6533 0 1 "" MS16349 nsv912928 20 49972378 50242571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526873 S 6533 1 0 ZFP64 SP57945 dgv4576n71 20 49995008 50065209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912929,nsv912930 M 6533 0 4 "" IS31302,IS31634,IS33839,IS41634 nsv180522 20 49995179 50003766 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199100 M 24 "" esv1389901 20 50011623 50011623 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337247 S 2 1 0 "" HuRef nsv180453 20 50011675 50011740 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199031 M 24 "" dgv4577n71 20 50020110 50069473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912932,nsv912931 M 6533 0 4 "" IS36787,IS37999,IS39011,IS41113 nsv459004 20 50032372 50062011 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535849 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00643 nsv518923 20 50060701 50065209 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694289 S 2026 0 1 "" nsv518147 20 50060701 50068834 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695568 S 2026 1 0 "" nsv516444 20 50061203 50066879 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658500,nssv670856,nssv661172,nssv693763,nssv689129,nssv699076,nssv668454,nssv660440 M 2026 5 3 "" esv24385 20 50085498 50087763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14329 S 451 0 1 "" NA12749 nsv515528 20 50086344 50090456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668702,nssv690312,nssv663833,nssv685744,nssv667658,nssv666718,nssv674984,nssv675990,nssv666761,nssv685516 M 2026 0 10 "" nsv459005 20 50110836 50132712 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535850 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00925 nsv521862 20 50118060 50129256 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694052 S 2026 1 0 "" nsv817898 20 50118060 50129256 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416987 S 112 1 0 "" NA19137 nsv517332 20 50119963 50121421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692549,nssv694163,nssv681380,nssv651746 M 2026 0 4 "" esv999399 20 50138160 50142572 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565627 S 3 1 0 ZFP64 HuRef esv995025 20 50191266 50194557 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564287 S 3 0 1 ZFP64 HuRef esv2532221 20 50191774 50194865 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329459 S 1 0 1 ZFP64 NA18507 esv2065897 20 50192438 50194420 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990929 S 1 0 1 ZFP64 NA18507 nsv179098 20 50192598 50194335 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197676 M 24 ZFP64 esv24606 20 50192829 50194166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15405 S 451 0 5 ZFP64 NA07037,NA07045,NA12878,NA18517,NA19108 esv1009237 20 50193056 50194057 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586386 S 3 0 1 ZFP64 HuRef nsv514942 20 50193200 50194004 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628352 S 1414 0 1 ZFP64 esv32674 20 50202312 50202645 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99912 S 51 1 0 ZFP64 22086 esv3942 20 50217315 50217537 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26383 S 1 0 1 Single Asian sample YH ZFP64 YH nsv179831 20 50217374 50217441 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198409 M 24 ZFP64 esv268053 20 50311326 50311411 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518570 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv3416 20 50341319 50385777 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2341 S 9 0 1 "" NA18555 esv23676 20 50441789 50443167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17831 S 451 0 1 "" NA18861 esv1010512 20 50576095 50576095 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567759 S 3 1 0 "" HuRef nsv178833 20 50580278 50580278 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197411 M 24 "" esv26598 20 50591166 50602403 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13395,esv14253 M 451 4 0 "" NA18505,NA18907,NA19114,NA19240 nsv828741 20 50603525 50611694 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423058 S 31 1 0 "" NA18552 esv26180 20 50652449 50653262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19968 S 451 0 1 "" NA18858 nsv912933 20 50661594 50742601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526874 S 6533 1 0 "" SP57945 nsv510490 20 50701085 50707085 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622317 S 4 0 1 "" NA10860 esv24907 20 50738069 50739018 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15490 S 451 1 0 "" NA19129 esv2574995 20 50740104 50740248 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245043 S 1 0 1 "" NA18507 nsv510491 20 50747256 50753256 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621501 S 4 0 1 "" NA15510 nsv459006 20 50998680 51032449 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535851 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSHZ2 HGDP01362 nsv526189 20 51010207 51013811 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702451 S 2026 1 0 "" nsv834005 20 51109650 51266852 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455132 S 95 1 0 TSHZ2 nsv526701 20 51204098 51213734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703040 S 2026 0 1 TSHZ2 nsv912934 20 51230177 51342873 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589688 S 6533 1 0 TSHZ2 IS38397 nsv523160 20 51268772 51277141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698869 S 2026 0 1 TSHZ2 esv269587 20 51270481 51271081 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495441,essv2505243 M 157 2 0 Samples from several populations that are part of the HapMap project. TSHZ2 NA11919,NA18853 nsv828743 20 51297922 51298574 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426301 S 31 1 0 TSHZ2 AK4 nsv519558 20 51385908 51387954 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696919 S 2026 0 1 TSHZ2 nsv459007 20 51408698 51466201 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535852 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSHZ2 HGDP00228 esv2616689 20 51465126 51466265 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391002 S 1 1 0 TSHZ2 NA18507 esv1006643 20 51465639 51465639 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570768 S 3 1 0 TSHZ2 HuRef esv1298126 20 51465645 51465645 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261719 S 2 1 0 TSHZ2 HuRef esv2557335 20 51518850 51520256 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362517 S 1 0 1 TSHZ2 NA18507 nsv834006 20 51615905 51742773 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455135,nssv1455133,nssv1455134 M 95 1 2 ZNF217 nsv3417 20 51629605 51663567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1609 S 9 1 0 ZNF217 NA19240 esv2492364 20 51638991 51644574 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201447 S 1 0 1 "" NA18507 nsv834007 20 51647271 51837964 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455136,nssv1455138,nssv1455137 M 95 2 1 "" nsv912935 20 51655313 51770525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555250 S 6533 0 1 "" MS21249 dgv4578n71 20 51684283 51778369 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912937,nsv912936 M 6533 2 0 "" SP50061,SP54936 esv34060 20 51685270 52135593 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BCAS1,MIR4756,SUMO1P1 esv271187 20 51707053 51707382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521489,essv2520630,essv2547380,essv2558340,essv2564533,essv2561872,essv2540220,essv2557491,essv2557212,essv2551725,essv2569518,essv2538884,essv2561713,essv2542057,essv2529433,essv2568645,essv2554494,essv2563275 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA12144,NA12716,NA12717,NA12750,NA12751,NA12874,NA18489,NA18499,NA18501,NA18504,NA18508,NA18519,NA18523,NA18856,NA19093,NA19147 nsv517172 20 51709859 51722650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675296,nssv652744,nssv676809,nssv690644,nssv658474,nssv655862,nssv683509,nssv672568,nssv682962,nssv663623,nssv693803,nssv688107,nssv689872,nssv669807,nssv653925,nssv654807,nssv667751,nssv691190,nssv662686,nssv684209,nssv673851,nssv672227,nssv688592,nssv683400,nssv677452,nssv654258,nssv681647,nssv652870,nssv686565,nssv662733,nssv683996,nssv678417,nssv693532,nssv652963,nssv689130,nssv692151,nssv684334,nssv669216,nssv658739,nssv653435,nssv668513,nssv676610 M 2026 0 42 "" nsv518277 20 51709859 51748718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695708 S 2026 0 1 "" nsv912938 20 51709859 51761745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583591 S 6533 0 1 "" IS36533 esv28156 20 51719098 51725481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10817 S 451 0 1 "" NA12006 nsv178618 20 51721252 51727369 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197196 M 24 "" nsv437185 20 51733766 51763460 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467066 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12707 nsv517748 20 51737515 51748718 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653096,nssv692281,nssv668790,nssv672484,nssv681286,nssv671007,nssv675814,nssv675565,nssv682037,nssv704809,nssv682438,nssv672470,nssv669775,nssv662345,nssv663424,nssv682024,nssv664807 M 2026 0 17 "" nsv437186 20 51742861 51748718 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467067 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10859 nsv3418 20 51748569 51773832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1610 S 9 1 0 "" NA19240 esv259440 20 51765162 51770142 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393706 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv21761 20 51765246 51770485 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12635 S 451 4 0 "" NA18508,NA18517,NA19147,NA19240 dgv66n68 20 51802067 52024202 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv834008,nsv834009 M 95 0 3 BCAS1,SUMO1P1 esv267776 20 51803235 51803368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503061,essv2496226,essv2505185,essv2494000,essv2504622 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18511,NA18853,NA18871,NA19099 nsv179471 20 51870895 51871535 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198049 M 24 "" esv1683668 20 51891483 51891656 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192044 S 2 0 1 "" HuRef esv23453 20 51898127 51919542 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16592,esv18025 M 451 5 2 "" NA07045,NA12004,NA12828,NA15510,NA18916,NA19099,NA19108 dgv704n67 20 51908079 51917786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828746,nsv828745,nsv828747,nsv828744 M 31 0 4 "" AK14,NA18526,NA18537,NA18566 nsv820856 20 51908079 51917786 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420100 S 1 1 0 "" NA10851 dgv705n67 20 51909169 51917747 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828748,nsv828749 M 31 3 0 "" AK18,AK6,NA18969 esv2361008 20 51913453 51913914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897243 S 1 0 1 "" NA18507 esv4661 20 51913569 51913810 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27102 S 1 0 1 Single Asian sample YH "" YH nsv828750 20 51913730 51917483 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423059 S 31 0 1 "" NA18552 nsv820262 20 51994175 51994796 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419029 S 2 0 1 BCAS1 AK1 esv25594 20 52046773 52047883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11894 S 451 0 1 BCAS1 NA18502 nsv3419 20 52070988 52105522 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4543 S 9 0 1 BCAS1 NA12878 esv2465974 20 52071093 52072103 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201803 S 1 1 0 BCAS1 NA18507 esv268120 20 52071326 52071651 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558084,essv2571583,essv2521163,essv2536797,essv2522925,essv2543972,essv2556630,essv2568407,essv2531743,essv2577237,essv2548224,essv2521868,essv2525280,essv2535216,essv2520676,essv2547547,essv2558599,essv2564418,essv2559706,essv2576449,essv2554959,essv2562070,essv2556992,essv2569470,essv2561387,essv2544586,essv2540436,essv2534533,essv2549283,essv2521903,essv2566184,essv2531020,essv2532867,essv2541597,essv2572587,essv2568893,essv2556223,essv2562426,essv2533794,essv2566416,essv2522382,essv2525798,essv2529524,essv2575086,essv2524031,essv2572756,essv2548685,essv2524804,essv2563380 M 157 49 0 Samples from several populations that are part of the HapMap project. BCAS1 NA07037,NA07357,NA10847,NA10851,NA11840,NA11894,NA11920,NA11931,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12156,NA12249,NA12716,NA12717,NA12750,NA12751,NA12776,NA12814,NA12872,NA12874,NA18501,NA18508,NA18523,NA18526,NA18552,NA18561,NA18564,NA18571,NA18572,NA18573,NA18576,NA18592,NA18609,NA18861,NA18871,NA18909,NA18944,NA18948,NA18960,NA18980,NA19093,NA19102,NA19129,NA19143 nsv437187 20 52077921 52093527 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467068 S 60 0 1 Samples from several populations that are part of the HapMap project. BCAS1 NA06991 nsv527711 20 52078573 52078948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704191 S 2026 0 1 BCAS1 dgv4579n71 20 52079436 52096816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912943,nsv912942,nsv912941,nsv912939,nsv912940 M 6533 0 75 BCAS1 IS30177,IS30280,IS30372,IS30398,IS31082,IS31137,IS31147,IS31369,IS31634,IS31821,IS33587,IS33768,IS33857,IS34356,IS34645,IS34697,IS35073,IS35195,IS35349,IS35403,IS35445,IS35633,IS35777,IS36050,IS36196,IS36330,IS36364,IS36570,IS37029,IS37172,IS37294,IS37452,IS38002,IS38333,IS38346,IS38362,IS38382,IS38411,IS38604,IS38622,IS39026,IS39090,IS39417,IS39490,IS39916,IS40021,IS40068,IS40254,IS40319,IS40347,IS40612,IS40677,IS40739,IS40752,IS40759,IS40872,IS40877,IS40883,IS41818,IS41926,IS41939,MS11632,MS13252,MS16607,MS16616,MS17113,MS18828,MS18966,MS23163,MS23487,MS24000,MS25025,SP54227,SP54774,SP56631 nsv517164 20 52080333 52094148 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673654,nssv689800,nssv682038,nssv654730,nssv670887,nssv687006,nssv683470,nssv662512,nssv676611,nssv705704,nssv659595,nssv669015,nssv655474,nssv658286,nssv669478,nssv666322,nssv658559,nssv661173,nssv654541,nssv684335,nssv658740,nssv687775,nssv676910,nssv684887,nssv678867,nssv671549,nssv653284,nssv655885,nssv690645,nssv688243,nssv678324,nssv664528,nssv667624,nssv664901,nssv691355,nssv680191,nssv679523,nssv662230,nssv676661,nssv667052,nssv654243,nssv678223,nssv654405,nssv670318,nssv687380,nssv690681,nssv670393,nssv685143,nssv663967,nssv691228,nssv669096,nssv688841,nssv689810,nssv693748,nssv686399,nssv681896,nssv654378,nssv674952,nssv662254,nssv689146,nssv698904,nssv670365,nssv674660,nssv678029,nssv680453,nssv679361,nssv682201,nssv651969,nssv693468,nssv671323,nssv663288,nssv664656,nssv688298,nssv658800,nssv652692,nssv686224,nssv657188,nssv690818,nssv660753,nssv676590,nssv688789,nssv692611,nssv681044,nssv671417,nssv663624,nssv689733,nssv680821,nssv673620,nssv663603,nssv660961,nssv685517,nssv681803,nssv666299,nssv657846,nssv657559,nssv665709,nssv663322,nssv654672,nssv667858,nssv683674,nssv664355,nssv655653,nssv673511,nssv683107,nssv675833,nssv681719,nssv675312,nssv681485,nssv655427,nssv677406,nssv687697,nssv675847,nssv657112,nssv665016,nssv684735,nssv691655,nssv652401,nssv683541,nssv692152,nssv660613,nssv667503,nssv684132,nssv680556,nssv653903,nssv662734,nssv686451,nssv689243,nssv671610,nssv666019,nssv691540,nssv660411,nssv688971,nssv664632,nssv689896,nssv683322,nssv662381,nssv654183,nssv688425,nssv693515 M 2026 4 135 BCAS1 esv23291 20 52080513 52091487 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13873 S 451 0 1 BCAS1 NA12878 nsv514943 20 52081184 52089872 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628353 S 1414 0 1 BCAS1 esv2421391 20 52081215 52092058 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5154138,essv5027659,essv5132415,essv5142790,essv5045435,essv5146817,essv5160615,essv5120338,essv5152508,essv5034363,essv5083096,essv5037214,essv5003039,essv5100730,essv5093329,essv5047361,essv5033168,essv5100919,essv5032937,essv5026112,essv5059542,essv5102062,essv5092349,essv5153247,essv5152072,essv5039386,essv5028080,essv5002494,essv5092049,essv5041666,essv5053754,essv5054683,essv5040492,essv5109118,essv5092681,essv5157926,essv5124483,essv5095254,essv5118962,essv5012485,essv5147736,essv5108469,essv5094479,essv5146295,essv5019463,essv5136815,essv5021232,essv5060596,essv5081127,essv5033165,essv5092877,essv5108311,essv5050454,essv5071528,essv5095975,essv5156505,essv5056307 M 1184 0 57 BCAS1 NA06991,NA06993,NA10836,NA11917,NA12057,NA12248,NA12275,NA12375,NA12383,NA12878,NA12891,NA19185,NA19186,NA19467,NA19661,NA19662,NA19682,NA19683,NA19685,NA19686,NA19704,NA19705,NA19759,NA19794,NA19796,NA19818,NA19828,NA20506,NA20515,NA20524,NA20531,NA20534,NA20582,NA20756,NA20770,NA20783,NA20815,NA20828,NA20850,NA20887,NA21115,NA21117,NA21141,NA21142,NA21311,NA21316,NA21317,NA21320,NA21336,NA21379,NA21408,NA21441,NA21523,NA21525,NA21526,NA21600,NA21601 nsv442485 20 52081215 52092058 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BCAS1 dgv513n27 20 52081230 52088118 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459010,nsv459014,nsv459013,nsv459011,nsv459018,nsv459009,nsv459017,nsv459012,nsv459016,nsv459015 M 1557 0 10 BCAS1 1780854464_A,1780854486_A,1782681216_A,1782681263_A,HGDP00671,HGDP00699,HGDP00730,HGDP00741,NINDS_118,NINDS_220 nsv817899 20 52081230 52088118 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415712,nssv1418259,nssv1416209,nssv1416284,nssv1416210,nssv1418248 M 112 0 6 BCAS1 NA06991,NA06993,NA12057,NA12248,NA12878,NA12891 nsv433324 20 52081230 52097190 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463205 S 9 0 1 Samples from several populations that are part of the HapMap project. BCAS1 NA12878 nsv179659 20 52085353 52094783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198237 M 24 BCAS1 dgv1335e1 20 52112544 52118615 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22269,esv1023 M 271 0 0 BCAS1,MIR4756 NA12762 nsv912944 20 52115166 52127021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526357 S 6533 0 1 BCAS1,MIR4756 SP57181 esv271492 20 52158612 52158942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558108,essv2575995,essv2540917,essv2546430,essv2526304,essv2522858,essv2543957,essv2571040,essv2568196,essv2545617,essv2523142,essv2577303,essv2548272,essv2521638,essv2525243,essv2550473,essv2535277,essv2554207,essv2551952,essv2520420,essv2558570,essv2577941,essv2553702,essv2565239,essv2576479,essv2564127,essv2555137,essv2561842,essv2537257,essv2528520,essv2546819,essv2557469,essv2532384,essv2569554,essv2578725,essv2569709,essv2561647,essv2544624,essv2523685,essv2542738,essv2524346,essv2564834,essv2561239,essv2539899,essv2549483,essv2559980,essv2521999,essv2532644,essv2567986,essv2528750,essv2570212,essv2563892,essv2572468,essv2559179,essv2541897,essv2543721,essv2555685,essv2567195,essv2527419,essv2522448,essv2531417,essv2573645,essv2543255,essv2572084,essv2529469,essv2575645,essv2575311,essv2574925,essv2568655,essv2549724,essv2571339,essv2545876,essv2574156,essv2551292,essv2548772,essv2533397,essv2554379,essv2548045,essv2524958,essv2563326 M 157 80 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11918,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12043,NA12045,NA12144,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12750,NA12761,NA12763,NA12812,NA12814,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18499,NA18505,NA18508,NA18510,NA18520,NA18523,NA18526,NA18537,NA18550,NA18555,NA18558,NA18562,NA18563,NA18564,NA18570,NA18571,NA18576,NA18577,NA18579,NA18593,NA18603,NA18609,NA18638,NA18856,NA18870,NA18945,NA18947,NA18952,NA18960,NA18961,NA18964,NA18965,NA18973,NA19093,NA19099,NA19102,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv273934 20 52158615 52158945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582070,essv2582316,essv2583182,essv2584373,essv2584673,essv2583777 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv912945 20 52180131 52206148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556846 S 6533 0 1 CYP24A1 MS22224 esv2296359 20 52183798 52184239 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784476 S 1 0 1 "" NA18507 nsv912946 20 52191823 52206148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576848 S 6533 0 1 CYP24A1 IS34264 nsv834010 20 52193231 52366346 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455142 S 95 0 1 CYP24A1,PFDN4 esv28399 20 52208289 52208951 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15156 S 451 0 1 CYP24A1 NA12287 esv259753 20 52212367 52212640 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395709,essv2394678,essv2394893,essv2398185,essv2396356 M 144 0 0 Samples from several populations that are part of the HapMap project. CYP24A1 NA18532,NA18870,NA18942,NA18949,NA19138 dgv67n68 20 52291748 52530584 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834012,nsv834011 M 95 4 0 DOK5 nsv178887 20 52318820 52328243 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197465 M 24 "" nsv527610 20 52413506 52417838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704074 S 2026 0 1 "" esv267605 20 52509720 52509906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511160,essv2499452,essv2495355,essv2495856,essv2493697,essv2495501,essv2497963,essv2512294,essv2505587,essv2506456,essv2498990,essv2511549 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA12044,NA12287,NA12489,NA18517,NA18916,NA18945,NA18949,NA19005,NA19108,NA19114 esv2441780 20 52617272 52618709 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291399 S 1 0 1 DOK5 NA18507 esv2566495 20 52654991 52655054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211551 S 1 0 1 DOK5 NA18507 esv997407 20 52695194 52695194 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580568 S 3 1 0 DOK5 HuRef esv29482 20 52722912 52728148 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10015,esv17576 M 451 5 0 "" NA18511,NA19114,NA19129,NA19190,NA19240 esv3572 20 52726024 52726506 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26013 S 1 0 1 Single Asian sample YH "" YH nsv180171 20 52726059 52726372 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198749 M 24 "" esv1007848 20 52726064 52726377 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576952 S 3 0 1 "" HuRef esv1280038 20 52726072 52726386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080225 S 2 0 1 "" HuRef esv8992 20 52726073 52726379 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31433 S 1 0 1 "" SJK esv1215006 20 52740759 52740759 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895633 S 2 1 0 "" HuRef esv267811 20 52764071 52764277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510540,essv2493315,essv2499843 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA19225 nsv507909 20 52766306 52772306 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617948 S 4 1 0 "" CHM nsv828751 20 52845228 52853430 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436273 S 31 0 1 "" NA18566 nsv517820 20 52854970 52858624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695224 S 2026 0 1 "" esv28326 20 52860054 52876631 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19895 S 451 2 0 "" NA11995,NA18505 nsv437840 20 52922049 52927629 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467721 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 dgv248n21 20 52930546 52997244 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524442,nsv521883 M 2026 0 2 "" esv24384 20 53036924 53038147 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10273 S 451 0 4 "" NA18511,NA18916,NA19108,NA19225 esv2563526 20 53073718 53074804 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204997 S 1 1 0 "" NA18507 esv274350 20 53074242 53074327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581275 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv268596 20 53074242 53074367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504032,essv2501000,essv2505690,essv2513482,essv2501505,essv2498776,essv2498147 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18856,NA18861,NA18907,NA19093,NA19138,NA19240 esv271403 20 53091271 53091356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513891 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv459023 20 53140029 53212566 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535865 S 1557 0 1 "" 1780862373_A esv2479796 20 53194785 53195634 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353202 S 1 1 0 "" NA18507 esv269651 20 53195227 53195553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557960,essv2565616,essv2575986,essv2540863,essv2571798,essv2546295,essv2521213,essv2525877,essv2542569,essv2536724,essv2523049,essv2543977,essv2570787,essv2556819,essv2568271,essv2545286,essv2523403,essv2577317,essv2570410,essv2548511,essv2521566,essv2576715,essv2550788,essv2525322,essv2535174,essv2554117,essv2544245,essv2552024,essv2520428,essv2547502,essv2529216,essv2558299,essv2564394,essv2577657,essv2553774,essv2559422,essv2565385,essv2576261,essv2519929,essv2564053,essv2555128,essv2530774,essv2562039,essv2537240,essv2528316,essv2547098,essv2530519,essv2540002,essv2557090,essv2552380,essv2532381,essv2569436,essv2578674,essv2550073,essv2558765,essv2536975,essv2539007,essv2569732,essv2527326,essv2561599,essv2544733,essv2563043,essv2523942,essv2552815,essv2541295,essv2538363,essv2543004,essv2540489,essv2524407,essv2564801,essv2534851,essv2561297,essv2539853,essv2549235,essv2519898,essv2560074,essv2522115,essv2566206,essv2531212,essv2532547,essv2567942,essv2528859,essv2567409,essv2541485,essv2569988,essv2563784,essv2553175,essv2535558,essv2572553,essv2559383,essv2566693,essv2542113,essv2551159,essv2568937,essv2543723,essv2527900,essv2562364,essv2539380,essv2533891,essv2578256,essv2555271,essv2533534,essv2555710,essv2567079,essv2566678,essv2529998,essv2574024,essv2527562,essv2556068,essv2534188,essv2522638,essv2531407,essv2573730,essv2543123,essv2573328,essv2577179,essv2571899,essv2525620,essv2527018,essv2529568,essv2575488,essv2538785,essv2526477,essv2560765,essv2523970,essv2574946,essv2530226,essv2545072,essv2560340,essv2548103,essv2549769,essv2571529,essv2545882,essv2574145,essv2551627,essv2536152,essv2537999,essv2548746,essv2533232,essv2554461,essv2547645,essv2524957,essv2563139 M 157 143 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272707 20 53195227 53195553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581743,essv2582747,essv2582872,essv2584257,essv2584401,essv2583440 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1006446 20 53195246 53195246 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582638 S 3 1 0 "" HuRef esv1715975 20 53195257 53195257 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367090 S 2 1 0 "" HuRef nsv515971 20 53208764 53212566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680515,nssv663483,nssv665536,nssv666478,nssv680045 M 2026 0 5 "" nsv828752 20 53245385 53246216 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437154 S 31 0 1 "" NA18542 esv2345824 20 53397085 53397507 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520692 S 1 0 1 "" NA18507 esv1708905 20 53397278 53397356 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660305 S 2 0 1 "" HuRef esv2198261 20 53403399 53403807 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987726 S 1 0 1 "" NA18507 nsv912947 20 53506158 53787235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511926 S 6533 1 0 "" SP55174 nsv509777 20 53537994 53561604 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619847 S 4 1 0 "" NA10860 nsv511066 20 53537994 53570380 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624368,nssv621658,nssv618681 M 4 0 0 "" CHM,NA15510,NA18994 esv24202 20 53558803 53561276 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12827 S 451 0 1 "" NA11995 nsv179138 20 53573164 53573164 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197716 M 24 "" esv992349 20 53594736 53594736 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581603 S 3 1 0 "" HuRef esv1534896 20 53594772 53594772 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067899 S 2 1 0 "" HuRef nsv912948 20 53617068 53805214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556763 S 6533 0 1 "" MS22146 esv2425611 20 53632374 53637526 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371958 S 1 0 1 "" NA18507 esv26231 20 53632967 53634098 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12372 S 451 1 0 "" NA12749 esv1104211 20 53633695 53633746 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633512 S 2 0 1 "" HuRef esv1204288 20 53633951 53633951 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805615 S 2 1 0 "" HuRef nsv179103 20 53636476 53636581 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197681 M 24 "" nsv179993 20 53647362 53647494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198571 M 24 "" esv26591 20 53671106 53671794 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15460 S 451 0 2 "" NA07037,NA11995 esv2392439 20 53702039 53702478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4690240 S 1 0 1 "" NA18507 nsv180631 20 53707139 53711211 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199209 M 24 "" esv25582 20 53714845 53725403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10533 S 451 0 1 "" NA18861 nsv518340 20 53730853 53844342 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695769 S 2026 1 0 "" esv275513 20 53731742 53735289 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585582,essv2585423 M 1250 1 1 "" esv272086 20 53736475 53736770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510761,essv2504216,essv2509869,essv2496280,essv2501181,essv2499168 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18508,NA18511,NA18516,NA19114 esv271391 20 53743218 53743523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501094,essv2500967,essv2498402,essv2513528,essv2504796,essv2506996 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18856,NA18858,NA18907,NA19099,NA19102 esv2627919 20 53759006 53761149 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356324 S 1 0 1 "" NA18507 nsv3420 20 53829990 53877418 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5886,nssv10303,nssv4544 M 9 0 3 "" NA12878,NA18956,NA19129 esv1002732 20 53867447 53876226 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564565 S 3 0 1 "" HuRef esv2572718 20 53867506 53874803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197839 S 1 0 1 "" NA18507 dgv71n16 20 53867705 53876086 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436323,nsv435734 M 2 0 2 "" NA15510,NA18505 esv2382251 20 53867841 53874224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629741 S 1 0 1 "" NA18507 nsv512621 20 53867842 53874282 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625235 S 1 0 1 "" 1 nsv498973 20 53868017 53874037 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585834 S 9 0 1 "" nsv179549 20 53868018 53874023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198127 M 24 "" esv1726582 20 53868030 53874036 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734580 S 2 0 1 "" HuRef nsv828754 20 53886062 53888395 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426302 S 31 1 0 "" AK4 esv2545459 20 53896027 53897515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186513 S 1 0 1 "" NA18507 esv1953354 20 53896453 53897151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501814 S 1 0 1 "" NA18507 esv3067 20 53896591 53897000 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25508 S 1 0 1 Single Asian sample YH "" YH esv1004520 20 53896600 53897266 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564804 S 3 0 1 "" HuRef nsv178765 20 53896628 53896944 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197343 M 24 "" esv993475 20 53896629 53896945 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577488 S 3 0 1 "" HuRef esv1675386 20 53896641 53896958 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880336 S 2 0 1 "" HuRef nsv178675 20 53924517 53924517 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197253 M 24 "" esv1072790 20 53924518 53924518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805036 S 2 1 0 "" HuRef esv1208620 20 53975559 53975729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820206 S 2 0 1 "" HuRef esv1105171 20 53975890 53975890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215088 S 2 1 0 "" HuRef esv26950 20 54184248 54188302 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20008 S 451 0 1 "" NA12489 esv29282 20 54240578 54244117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10769 S 451 0 1 "" NA07037 nsv528431 20 54257212 54272669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705024 S 2026 0 1 MC3R esv2634417 20 54287983 54293791 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314462 S 1 0 1 "" NA18507 esv1427991 20 54289710 54289760 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128382 S 2 0 1 "" HuRef esv1714628 20 54292824 54292824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670225 S 2 1 0 "" HuRef esv992226 20 54292824 54294559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565197 S 3 1 0 "" HuRef esv1611628 20 54292826 54292826 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267521 S 2 1 0 "" HuRef esv1634206 20 54292840 54292840 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656724 S 2 1 0 "" HuRef nsv834013 20 54315742 54484589 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455147 S 95 1 0 AURKA,C20orf108,C20orf43,CASS4,CSTF1 nsv522197 20 54357169 54370950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694970 S 2026 0 1 C20orf108 nsv526373 20 54371614 54371871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702669 S 2026 0 1 C20orf108 nsv828755 20 54373731 54374519 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434814 S 31 1 0 C20orf108 NA18570 nsv828756 20 54374229 54374857 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434115 S 31 1 0 C20orf108 NA18526 esv259662 20 54396447 54396715 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394144,essv2393701 M 6 0 0 Samples from several populations that are part of the HapMap project. AURKA NA12878,NA19238 esv1000250 20 54396555 54396555 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574726 S 3 1 0 AURKA HuRef nsv179276 20 54396557 54396557 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197854 M 24 AURKA esv990423 20 54396616 54396616 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579138 S 3 1 0 AURKA HuRef esv1411689 20 54396617 54396617 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048480 S 2 1 0 AURKA HuRef nsv179472 20 54396618 54396618 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198050 M 24 AURKA nsv525425 20 54412442 54905757 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701549 S 2026 1 0 C20orf106,C20orf107,C20orf43,CASS4,CSTF1,GCNT7,TFAP2C nsv527880 20 54418175 54419681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704382 S 2026 0 1 "" nsv518442 20 54422733 54438409 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694237 S 2026 1 0 CASS4 dgv249n21 20 54448573 54454096 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524572,nsv519169 M 2026 0 2 CASS4 nsv525175 20 54448573 54459169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701251 S 2026 0 1 CASS4 esv29379 20 54450555 54452040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16321,esv19263 M 451 0 3 CASS4 NA18511,NA18907,NA19225 esv267778 20 54466981 54472319 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516617 S 157 1 0 Samples from several populations that are part of the HapMap project. CASS4 NA12814 esv29810 20 54503696 54504373 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19674 S 451 1 0 C20orf43,GCNT7 NA19114 nsv834015 20 54527175 54664965 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455148 S 95 0 1 C20orf106,C20orf107,C20orf43,GCNT7,TFAP2C esv2022952 20 54581413 54581809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840250 S 1 0 1 "" NA18507 esv1005986 20 54638489 54638723 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583269 S 3 0 1 TFAP2C HuRef nsv459024 20 54702731 54778461 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535866 S 1557 1 0 "" 1780862484_A esv1701216 20 54719249 54719325 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939145 S 2 0 1 "" HuRef esv24481 20 54787825 54788882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16658 S 451 0 16 "" NA11894,NA11993,NA12878,NA18502,NA18505,NA18511,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv2398638 20 54790387 54790772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948693 S 1 0 1 "" NA18507 nsv180168 20 54790490 54790585 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198746 M 24 "" nsv459025 20 54842260 54859768 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535867 S 1557 0 1 "" 1780862345_A nsv528099 20 54842260 54859768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704639 S 2026 0 1 "" nsv817900 20 54842260 54859768 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415876 S 112 0 1 "" NA11992 nsv459026 20 54842260 54872193 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535868 S 1557 0 1 "" NINDS_156 nsv519646 20 54844347 54844478 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696971 S 2026 1 0 "" nsv834016 20 54873605 55093917 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455149 S 95 0 1 "" nsv912949 20 54874479 54937899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525407 S 6533 0 1 "" SP56543 esv269569 20 54979308 54979393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516325 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv3422 20 54979693 55024761 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7692 S 9 0 1 "" NA12156 nsv834017 20 54989120 55125001 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455150 S 95 0 1 "" nsv519781 20 54989563 54996599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697048 S 2026 0 1 "" esv3502 20 55020744 55021361 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25943 S 1 0 1 Single Asian sample YH "" YH esv24405 20 55020804 55021298 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11822 S 451 0 1 "" NA19129 nsv828757 20 55020883 55021354 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427182 S 31 0 1 "" AK6 esv2631843 20 55038042 55039706 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355284 S 1 0 1 "" NA18507 esv2079355 20 55038713 55039353 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798225 S 1 0 1 "" NA18507 esv5183 20 55040202 55040640 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27624 S 1 0 1 Single Asian sample YH "" YH dgv103n6 20 55040359 55040498 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv180378,nsv179326 M 24 "" nsv3423 20 55042669 55087417 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7693 S 9 0 1 "" NA12156 dgv4580n71 20 55045007 55079605 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912950,nsv912951 M 6533 2 0 "" IS34755,IS35726 esv275083 20 55060609 55070033 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585940,essv2585923 M 1250 1 1 "" dgv4581n71 20 55073269 55105695 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912953,nsv912952 M 6533 0 2 "" IS35608,IS35676 nsv912954 20 55091051 55105695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547055 S 6533 0 1 "" MS17208 nsv912955 20 55096593 55123301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543820 S 6533 0 1 "" MS16153 nsv912956 20 55100437 55136852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573992 S 6533 0 1 "" IS33504 nsv912957 20 55116607 55219025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547056 S 6533 0 1 BMP7 MS17208 esv1008742 20 55118960 55119065 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581980 S 3 0 1 "" HuRef esv1640889 20 55119021 55119127 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272371 S 2 0 1 "" HuRef esv1711955 20 55126159 55126232 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344213 S 2 0 1 "" HuRef nsv523091 20 55177906 55224755 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698783 S 2026 0 1 BMP7 esv1010828 20 55198822 55198893 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580944 S 3 0 1 BMP7 HuRef esv1062572 20 55198875 55198947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063890 S 2 0 1 BMP7 HuRef esv24660 20 55227526 55228226 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10261 S 451 0 1 BMP7 NA19240 nsv459027 20 55306931 55374328 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535869 S 1557 0 1 MIR4325,MTRNR2L3,RAE1,SPO11 1780862408_A nsv3424 20 55385686 55417006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11040 S 9 1 0 RAE1,RBM38 NA15510 nsv516617 20 55386960 55430141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669600,nssv676692 M 2026 0 2 RBM38 nsv912958 20 55386960 55441065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575216 S 6533 0 1 RBM38 IS33684 dgv4582n71 20 55386960 55472163 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912960,nsv912959 M 6533 0 2 RBM38 MS10311,MS16153 esv33591 20 55399411 55400534 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101025 S 51 0 1 RBM38 21693 esv33697 20 55403115 55403948 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93572,essv93341,essv94869,essv100286 M 51 4 0 RBM38 22128,22170,22231,22286 nsv517912 20 55403739 55459234 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695322 S 2026 0 1 RBM38 esv2096386 20 55425680 55426027 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962224 S 1 0 1 "" NA18507 esv260012 20 55425806 55426131 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400885,essv2398909,essv2397590,essv2399438,essv2394690,essv2397918,essv2395343,essv2394430,essv2397487,essv2397001,essv2398757,essv2394860,essv2396372 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11993,NA11995,NA12044,NA18858,NA18870,NA18907,NA18916,NA18943,NA18947,NA18973,NA19005,NA19114,NA19138 nsv180193 20 55425941 55425941 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198771 M 24 "" nsv3425 20 55528395 55563428 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4545 S 9 1 0 CTCFL NA12878 nsv828758 20 55533508 55535625 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430271 S 31 1 0 CTCFL AK14 esv25156 20 55533543 55535726 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13272 S 451 3 0 CTCFL NA06985,NA12044,NA12156 dgv1336e1 20 55604184 55815784 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv685,essv1835,essv6350,essv7085,essv15646,essv12555,essv5304,essv13525,essv4369,essv16219,essv7589,essv4946,essv20401,essv14056,essv8333,essv15299,essv18147,essv9831,essv10882,essv18663,essv3414,essv24122,essv10420,essv16083,essv17612,essv4009,essv7361 M 271 0 0 PMEPA1,ZBP1 NA10830,NA10847,NA11993,NA12234,NA12753,NA18501,NA18537,NA18545,NA18563,NA18570,NA18573,NA18609,NA18637,NA18858,NA18861,NA18862,NA18863,NA18871,NA18912,NA18945,NA18970,NA18975,NA18976,NA19098,NA19160,NA19161,NA19222 dgv1337e1 20 55604184 55914083 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4133,essv7842,essv19602,essv6273,essv15567,essv7695,essv21690 M 271 0 0 MIR4532,PMEPA1,ZBP1 NA12155,NA12248,NA18555,NA18558,NA18633,NA18636,NA19137 dgv1338e1 20 55604184 56121677 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv381,essv12685,essv23576 M 271 0 0 MIR4532,PMEPA1,ZBP1 NA12006,NA18500 esv2234086 20 55606767 55607173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558637 S 1 0 1 "" NA18507 nsv912961 20 55618538 55684967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531006 S 6533 0 1 PMEPA1,ZBP1 MS10311 nsv9817 20 55664589 55674624 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25623 S 31 1 0 Samples from several populations that are part of the HapMap project. PMEPA1 NA18980 nsv912962 20 55692459 55727719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592472 S 6533 0 1 PMEPA1 IS39233 nsv9818 20 55717058 55719627 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25976,nssv24355 M 31 2 0 Samples from several populations that are part of the HapMap project. PMEPA1 NA07029,NA12740 esv22193 20 55717330 55718832 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16431 S 451 0 1 PMEPA1 NA07045 nsv459028 20 55727719 55740952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535870 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00998 nsv834018 20 55751745 55888119 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455151 S 95 1 0 "" nsv3426 20 55835107 55869124 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1612 S 9 1 0 "" NA19240 nsv180121 20 55842260 55842810 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198699 M 24 "" esv1545194 20 55894722 55894722 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199549 S 2 1 0 "" HuRef nsv178879 20 55894806 55894806 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197457 M 24 "" nsv526863 20 55911421 55912403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703221 S 2026 0 1 "" nsv3427 20 55972678 56006356 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7694 S 9 1 0 "" NA12156 esv2567883 20 55983257 55983639 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183715 S 1 1 0 "" NA18507 esv2233686 20 55987761 55988250 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990750 S 1 0 1 "" NA18507 nsv179990 20 55988109 55988200 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198568 M 24 "" nsv180620 20 56105484 56105484 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199198 M 24 "" esv2161217 20 56105535 56105963 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899096 S 1 0 1 "" NA18507 esv1695128 20 56105613 56105613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226353 S 2 1 0 "" HuRef esv1279701 20 56105740 56105740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598233 S 2 1 0 "" HuRef nsv180048 20 56133153 56136114 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198626 M 24 "" esv274945 20 56201019 56204563 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585560 S 1250 0 1 "" nsv513550 20 56205013 56205535 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625965 S 1 1 0 "" 1 nsv828759 20 56205194 56218052 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427183 S 31 1 0 "" AK6 esv33505 20 56221514 56221744 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94256 S 51 1 0 "" 22394 nsv828760 20 56346896 56347489 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426303 S 31 0 1 RAB22A AK4 nsv527689 20 56394865 56396117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704165 S 2026 0 1 "" nsv834019 20 56406060 56615549 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455152 S 95 0 1 APCDD1L,LOC149773,VAPB nsv3428 20 56459513 56504587 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7696 S 9 0 1 APCDD1L,VAPB NA12156 nsv525781 20 56488558 56488663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701956 S 2026 0 1 APCDD1L esv2470822 20 56528441 56528867 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192889 S 1 1 0 LOC149773 NA18507 nsv513551 20 56528706 56529005 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625966 S 1 1 0 LOC149773 1 esv2117299 20 56550604 56550996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563548 S 1 0 1 LOC149773 NA18507 nsv179317 20 56550658 56550729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197895 M 24 LOC149773 esv1004047 20 56550692 56550835 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571000 S 3 0 1 LOC149773 HuRef esv26473 20 56593980 56595020 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14018 S 451 0 2 LOC149773 NA18502,NA19240 nsv3429 20 56622489 56639215 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5887 S 9 1 0 LOC149773 NA19129 nsv180089 20 56624407 56624407 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198667 M 24 LOC149773 nsv526233 20 56631344 56637454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702500 S 2026 0 1 "" nsv523512 20 56631344 56645554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699284 S 2026 0 1 "" nsv828761 20 56661208 56702976 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435580 S 31 0 1 NPEPL1,STX16,STX16-NPEPL1 NA18942 esv1002410 20 56668242 56674086 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564239 S 3 0 1 STX16,STX16-NPEPL1 HuRef nsv912963 20 56699540 57012009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521761 S 6533 1 0 CTSZ,GNAS,GNAS-AS1,MIR296,MIR298,NPEPL1,STX16-NPEPL1,TH1L SP52571 esv2558295 20 56703121 56703809 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215656 S 1 1 0 NPEPL1,STX16-NPEPL1 NA18507 esv1198718 20 56703483 56703483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893041 S 2 1 0 NPEPL1,STX16-NPEPL1 HuRef nsv513552 20 56703752 56704177 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625967 S 1 1 0 NPEPL1,STX16-NPEPL1 1 nsv828762 20 56707613 56717904 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427963 S 31 0 1 NPEPL1,STX16-NPEPL1 AK8 nsv521973 20 56737668 56746887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694053 S 2026 0 1 "" nsv912964 20 56801859 56841821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543822 S 6533 0 1 GNAS-AS1,MIR296,MIR298 MS16153 esv2461600 20 56838501 56839359 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306910 S 1 1 0 GNAS-AS1 NA18507 esv1197292 20 56838983 56838983 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047834 S 2 1 0 GNAS-AS1 HuRef nsv828763 20 56848238 56917278 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435581 S 31 0 1 GNAS,GNAS-AS1 NA18942 nsv459031 20 56855022 56912528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535872 S 1557 0 1 GNAS,GNAS-AS1 1780862101_A nsv459032 20 56877226 56923643 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535873 S 1557 0 1 GNAS 1780862414_A esv27992 20 56898846 56900578 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17350 S 451 0 1 GNAS NA12004 esv274932 20 56920600 56924942 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586069,essv2586115 M 1250 1 1 "" esv275505 20 56951846 56959163 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585788 S 1250 0 1 "" nsv525118 20 56981340 57005158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701183 S 2026 0 1 CTSZ,TH1L nsv3430 20 57054210 57088313 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4546 S 9 1 0 "" NA12878 nsv517931 20 57061634 57094259 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695343 S 2026 1 0 "" nsv834020 20 57063146 57238574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455153 S 95 0 1 ZNF831 nsv834021 20 57140403 57304375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455154 S 95 1 0 ZNF831 esv1576253 20 57141717 57141717 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288763 S 2 1 0 "" HuRef nsv178666 20 57156840 57157173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197244 M 24 "" nsv523738 20 57194903 57203357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699554 S 2026 0 1 ZNF831 esv2223494 20 57219105 57219712 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916900 S 1 0 1 ZNF831 NA18507 nsv178602 20 57219300 57219515 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197180 M 24 ZNF831 esv8268 20 57219302 57219506 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30709 S 1 0 1 ZNF831 SJK nsv3431 20 57251288 57258489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7697 S 9 1 0 ZNF831 NA12156 nsv819120 20 57267190 57267381 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419092 S 2 0 1 ZNF831 AK1 nsv3433 20 57276308 57310515 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3066 S 9 1 0 EDN3 NA18555 esv28848 20 57392342 57393562 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10360 S 451 1 0 "" NA15510 nsv912965 20 57437639 57469557 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597427 S 6533 0 1 "" IS40902 esv1380673 20 57450656 57450656 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596040 S 2 1 0 "" HuRef nsv525595 20 57506041 57509852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701737 S 2026 0 1 "" nsv178747 20 57573092 57573092 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197325 M 24 "" nsv3434 20 57609887 57643010 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7698 S 9 1 0 LOC100506384,PHACTR3 NA12156 nsv3435 20 57671856 57705787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7699 S 9 1 0 PHACTR3 NA12156 esv2338184 20 57682751 57683217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785684 S 1 0 1 PHACTR3 NA18507 esv22391 20 57700903 57701462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17487 S 451 0 1 PHACTR3 NA18505 nsv459033 20 57735790 57741780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535874 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PHACTR3 HGDP00356 nsv520022 20 57735790 57741780 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701448,nssv660128,nssv676385 M 2026 0 3 PHACTR3 nsv912966 20 57741780 57807781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547057 S 6533 0 1 PHACTR3 MS17208 esv992120 20 57751716 57763324 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565628 S 3 0 1 PHACTR3 HuRef dgv4583n71 20 57871466 57901196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912970,nsv912969,nsv912967 M 6533 0 3 SYCP2 SP53041,SP56289,SP57418 nsv912968 20 57871466 57933023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499987 S 6533 0 1 SYCP2 SP50649 dgv4584n71 20 57936043 57956763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912971,nsv912973,nsv912972 M 6533 0 9 C20orf177,PPP1R3D,SYCP2 SP54043,SP54684,SP54725,SP54956,SP54988,SP55019,SP55021,SP56223,SP57469 esv1009769 20 57965829 57971988 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564920 S 3 0 1 CDH26 HuRef nsv817901 20 57998636 58005901 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416988 S 112 0 1 CDH26 NA19137 nsv519134 20 58051646 58053755 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694309 S 2026 0 1 "" nsv819951 20 58064094 58065563 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419267 S 2 1 0 C20orf197 AK1 esv2631555 20 58071348 58072231 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318538 S 1 1 0 C20orf197 NA18507 esv269591 20 58071476 58071600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512594,essv2502979,essv2495653,essv2497085 M 157 4 0 Samples from several populations that are part of the HapMap project. C20orf197 NA18489,NA18507,NA18916,NA19190 esv2559283 20 58080493 58081939 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191783 S 1 0 1 C20orf197 NA18507 esv2172414 20 58095706 58096125 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929561 S 1 0 1 "" NA18507 nsv179826 20 58095891 58096031 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198404 M 24 "" esv27483 20 58103587 58109158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17477 S 451 0 2 "" NA18511,NA19190 esv23496 20 58178132 58179309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19064 S 451 0 1 "" NA19257 esv2353132 20 58315391 58315842 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515034 S 1 0 1 "" NA18507 esv2526081 20 58315596 58315721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306752 S 1 0 1 "" NA18507 esv2471730 20 58322002 58323069 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209535 S 1 1 0 "" NA18507 esv1593997 20 58323199 58323199 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798663 S 2 1 0 "" HuRef nsv522132 20 58341066 58342744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694906 S 2026 0 1 "" dgv250n21 20 58388925 58391054 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517887,nsv521238 M 2026 0 2 "" esv21869 20 58417447 58419167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21172 S 451 0 2 "" NA11993,NA15510 esv1687796 20 58418470 58418930 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826098 S 2 0 1 "" HuRef esv1276273 20 58447528 58447528 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971637 S 2 1 0 "" HuRef nsv179359 20 58465139 58465289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197937 M 24 "" nsv834022 20 58476906 58678743 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455155 S 95 1 0 MIR4533 nsv520363 20 58495497 58495708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697373 S 2026 0 1 "" dgv514n27 20 58546996 58554851 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459035,nsv459034 M 1557 0 2 "" 1780862015_A,1780862551_A nsv517193 20 58546996 58554851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685877,nssv693833,nssv666461,nssv684972,nssv683263,nssv672228,nssv671873,nssv660160,nssv656842,nssv678883,nssv667859,nssv690157,nssv670048,nssv692784,nssv677492,nssv659665,nssv693469,nssv657592,nssv676662,nssv680557,nssv681911,nssv658151,nssv653981,nssv663376,nssv664256,nssv678396,nssv691143,nssv681220 M 2026 0 28 "" nsv817902 20 58546996 58554851 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416114,nssv1416113,nssv1417083 M 112 0 3 "" NA12043,NA12801,NA12813 esv22971 20 58546997 58558274 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9982 S 451 0 1 "" NA07045 nsv442486 20 58547104 58556092 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1672168 20 58608734 58608734 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735543 S 2 1 0 "" HuRef esv1457480 20 58711543 58711543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206208 S 2 1 0 "" HuRef nsv912974 20 58729743 58779033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571377 S 6533 0 1 "" IS32714 esv1414326 20 58772794 58772794 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177672 S 2 1 0 "" HuRef nsv510492 20 58785703 58791703 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624248,nssv621502,nssv622318,nssv618458 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv527839 20 58792537 58797358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704337 S 2026 0 1 "" esv25897 20 58829892 58843121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16455 S 451 0 1 "" NA19108 nsv514944 20 58831764 58841752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628354 S 1414 0 1 "" nsv442487 20 58831790 58841969 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv520295 20 58836797 58840032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675025,nssv662470,nssv671550,nssv691913 M 2026 0 4 "" nsv817903 20 58836797 58840032 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418334,nssv1418333,nssv1416415 M 112 0 3 "" NA18856,NA19093,NA19094 esv26296 20 58908153 58916440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10114 S 451 0 1 "" NA19108 esv271177 20 58908589 58908674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519053 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv273488 20 58916062 58916246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584347,essv2583306 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv2584662 20 58922575 58924017 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188887 S 1 0 1 "" NA18507 dgv706n67 20 58926646 58927140 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828765,nsv828766 M 31 2 0 "" AK4,NA18570 nsv510493 20 58930513 58936513 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624249 S 4 0 1 "" NA18994 nsv912975 20 58931837 58973492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552089 S 6533 0 1 "" MS19161 nsv912976 20 58950713 58973492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553429 S 6533 0 1 "" MS20030 nsv834023 20 58951342 59171255 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455156 S 95 0 1 "" nsv9819 20 58992103 58997493 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27128 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv4585n71 20 58995815 59025355 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912978,nsv912977,nsv912980,nsv912979 M 6533 12 0 "" MS15940,MS17438,MS20011,SP54395,SP54477,SP54650,SP55131,SP55829,SP55992,SP56319,SP57208,SP80982 dgv1339e1 20 58995933 59023990 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20484,esv1125,essv20544 M 271 0 0 "" NA11995,NA12249 nsv516169 20 58997486 59025355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666593,nssv672139,nssv668275,nssv689423,nssv673165,nssv681101,nssv688190,nssv657921,nssv692581,nssv690780,nssv675126 M 2026 11 0 "" nsv459036 20 58998640 59014432 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535877 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00130 dgv515n27 20 58998640 59022667 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459042,nsv459045,nsv459038,nsv459040,nsv459043,nsv459037,nsv459047,nsv459048,nsv459044,nsv459046,nsv459039 M 1557 11 0 "" HGDP00066,HGDP00082,HGDP00109,HGDP00120,HGDP00146,HGDP00591,HGDP00766,HGDP01214,HGDP01228,HGDP01306,NINDS_216 esv22266 20 59001249 59023411 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14278 S 451 1 0 "" NA11995 dgv170e55 20 59002900 59025400 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751918,esv2751919 M 771 2 0 "" BEC_448,BEC_466 nsv817904 20 59002911 59022667 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415925,nssv1415926 M 112 2 0 "" NA10861,NA11995 nsv442488 20 59003765 59023478 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817905 20 59010964 59022667 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415713 S 112 1 0 "" NA12249 nsv509778 20 59022859 59022859 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618137 S 4 1 0 "" CHM esv1524274 20 59032437 59032486 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925563 S 2 0 1 "" HuRef esv2333166 20 59054261 59054689 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828612 S 1 0 1 "" NA18507 nsv180476 20 59054409 59054483 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199054 M 24 "" esv1005754 20 59054417 59054491 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568460 S 3 0 1 "" HuRef esv1039028 20 59054457 59054532 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625854 S 2 0 1 "" HuRef nsv516058 20 59068892 59072251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665930,nssv659381 M 2026 0 2 "" nsv520886 20 59077126 59077180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676991,nssv686107 M 2026 0 2 "" esv993243 20 59101022 59111104 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564997 S 3 0 1 "" HuRef nsv512622 20 59108137 59111221 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625236 S 1 0 1 "" 1 nsv524672 20 59108657 59111493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700643 S 2026 0 1 "" esv2510175 20 59109238 59111313 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233297 S 1 0 1 "" NA18507 esv27710 20 59109316 59111389 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17883 S 451 0 9 "" NA06985,NA11931,NA12287,NA12749,NA18505,NA18511,NA18517,NA18916,NA19108 esv2165424 20 59110315 59111110 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729582 S 1 0 1 "" NA18507 esv995905 20 59110485 59110987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581849 S 3 0 1 "" HuRef esv267445 20 59113132 59113304 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494380,essv2506033,essv2498451,essv2493928,essv2499179 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18523,NA18858,NA18871,NA19114 nsv3436 20 59126688 59136047 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7700 S 9 1 0 "" NA12156 nsv459049 20 59132494 59140659 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535890 S 1557 0 1 "" NINDS_23 esv272028 20 59150971 59151169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565672,essv2575842,essv2546241,essv2526195,essv2571062,essv2545290,essv2577488,essv2534970,essv2552163,essv2558382,essv2577667,essv2559609,essv2564015,essv2530737,essv2536067 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11829,NA11830,NA11881,NA11918,NA11993,NA12003,NA12043,NA12249,NA12489,NA12750,NA12761,NA12776,NA12828,NA12873 nsv513553 20 59161237 59162016 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625917 S 1 1 0 "" 1 esv1267315 20 59185351 59185351 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926136 S 2 1 0 "" HuRef nsv522925 20 59187980 59193184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698587 S 2026 0 1 "" esv270713 20 59200085 59200170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519091 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv24921 20 59210260 59210895 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12076 S 451 8 0 "" NA12004,NA18505,NA18508,NA18511,NA19114,NA19190,NA19225,NA19240 nsv820683 20 59210260 59210895 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420101 S 1 0 1 "" NA10851 nsv912981 20 59220679 59380439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589561 S 6533 1 0 CDH4 IS38382 nsv525918 20 59237027 59241454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702122 S 2026 0 1 "" esv1007776 20 59238068 59238117 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584526 S 3 0 1 "" HuRef nsv178943 20 59238069 59238118 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197521 M 24 "" esv1731910 20 59238088 59238138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233711 S 2 0 1 "" HuRef nsv828767 20 59256110 59267454 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427184 S 31 1 0 CDH4 AK6 esv29173 20 59260547 59261910 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19113 S 451 0 1 CDH4 NA07045 nsv912982 20 59287333 59311662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531007 S 6533 0 1 CDH4 MS10311 esv27613 20 59291222 59291922 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12868 S 451 0 11 CDH4 NA11993,NA18502,NA18505,NA18511,NA18523,NA18861,NA18909,NA19099,NA19114,NA19190,NA19225 esv1771538 20 59291396 59291396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217521 S 2 1 0 CDH4 HuRef nsv179121 20 59291397 59291473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197699 M 24 CDH4 nsv509780 20 59309848 59347152 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619848 S 4 1 0 CDH4 NA10860 nsv3437 20 59315183 59348837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7701 S 9 1 0 CDH4 NA12156 nsv179441 20 59317772 59317822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198019 M 24 CDH4 esv1196998 20 59317829 59317880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864048 S 2 0 1 CDH4 HuRef nsv912983 20 59335286 59396189 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588940 S 6533 1 0 CDH4 IS38268 esv7139 20 59337854 59337944 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29580 S 1 1 0 CDH4 SJK esv1411893 20 59340087 59340087 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590111 S 2 1 0 CDH4 HuRef esv1375804 20 59345749 59345749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982228 S 2 1 0 CDH4 HuRef esv26919 20 59358605 59359235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11171 S 451 0 4 CDH4 NA18502,NA18508,NA19114,NA19240 esv2533474 20 59361866 59362433 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363274 S 1 1 0 CDH4 NA18507 nsv912984 20 59368607 59427294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565331 S 6533 0 1 CDH4 IS30395 esv2490155 20 59384168 59385062 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321793 S 1 1 0 CDH4 NA18507 esv1532419 20 59392076 59392076 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265635 S 2 1 0 CDH4 HuRef dgv4586n71 20 59396189 59427294 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912986,nsv912985 M 6533 0 2 CDH4 MS10311,MS17208 esv26994 20 59398298 59399370 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12283 S 451 0 6 CDH4 NA11993,NA11995,NA12044,NA12287,NA12749,NA12828 nsv820509 20 59398298 59399370 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420102 S 1 1 0 CDH4 NA10851 nsv179535 20 59398890 59398942 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198113 M 24 CDH4 esv994043 20 59398924 59399029 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581059 S 3 0 1 CDH4 HuRef dgv4587n71 20 59405195 59436470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912987,nsv912988 M 6533 0 2 CDH4 IS31118,MS10615 esv267785 20 59405809 59405894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518752,essv2515642 M 157 2 0 Samples from several populations that are part of the HapMap project. CDH4 NA12045,NA12815 nsv459050 20 59406283 59425244 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535891 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH4 HGDP00251 esv2554517 20 59407178 59408689 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265541 S 1 0 1 CDH4 NA18507 esv2249248 20 59407391 59408071 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978682 S 1 0 1 CDH4 NA18507 esv4512 20 59407499 59407955 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26953 S 1 0 1 Single Asian sample YH CDH4 YH nsv912989 20 59410236 59488340 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589562 S 6533 1 0 CDH4 IS38382 nsv428377 20 59426900 59538723 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453849 S 62 1 0 CDH4 NA18498 nsv912990 20 59444012 59503256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576532 S 6533 0 1 CDH4 IS34108 esv2574659 20 59452132 59453049 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206355 S 1 1 0 CDH4 NA18507 esv2345104 20 59466642 59467108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750913 S 1 0 1 CDH4 NA18507 esv2554390 20 59483508 59484526 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163164 S 1 1 0 CDH4 NA18507 esv6269 20 59529261 59529350 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28710 S 1 1 0 CDH4 SJK nsv912991 20 59530524 59654348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589563 S 6533 1 0 CDH4 IS38382 dgv4588n71 20 59537111 59640796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv912993,nsv912992 M 6533 0 2 CDH4 MS10311,MS17208 esv1919718 20 59543133 59543468 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928755 S 1 0 1 CDH4 NA18507 esv21842 20 59546452 59547047 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11537 S 451 0 1 CDH4 NA19257 esv1403116 20 59554530 59554530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815989 S 2 1 0 CDH4 HuRef nsv179380 20 59558601 59558667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197958 M 24 CDH4 esv269644 20 59566182 59568549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510255,essv2498339,essv2500385,essv2494528,essv2497213,essv2499965,essv2508179,essv2508483,essv2509974,essv2511086,essv2497848,essv2493067,essv2505398,essv2496003,essv2505652,essv2506910 M 157 16 0 Samples from several populations that are part of the HapMap project. CDH4 NA10851,NA18526,NA18537,NA18550,NA18552,NA18558,NA18579,NA18582,NA18593,NA18944,NA18945,NA18951,NA18952,NA18961,NA19005,NA19102 nsv912994 20 59577747 59680945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543823 S 6533 0 1 CDH4 MS16153 esv3823 20 59594085 59594352 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26264 S 1 0 1 Single Asian sample YH CDH4 YH esv1730838 20 59594153 59594263 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153451 S 2 0 1 CDH4 HuRef nsv180324 20 59594315 59594315 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198902 M 24 CDH4 esv23845 20 59619365 59623516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20518 S 451 0 1 CDH4 NA18508 dgv4589n71 20 59625556 59727064 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912997,nsv912995 M 6533 6 0 CDH4 IS37752,IS38099,IS39646,IS40272,MS21550,MS26151 esv1730921 20 59628645 59628645 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705424 S 2 1 0 CDH4 HuRef nsv912996 20 59635416 59669071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546425 S 6533 0 1 CDH4 MS17208 nsv459051 20 59647962 59722273 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535892 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH4 HGDP00388 nsv912998 20 59648074 59676297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531010 S 6533 0 1 CDH4 MS10311 esv3427 20 59649991 59650609 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25868 S 1 0 1 Single Asian sample YH CDH4 YH nsv820520 20 59650101 59650669 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420105 S 1 0 1 CDH4 NA10851 esv29567 20 59650101 59652871 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19790,esv16004 M 451 3 0 CDH4 NA11894,NA12878,NA19257 nsv470554 20 59650650 59722273 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547381 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH4 HGDP00388 dgv4590n71 20 59669071 59727064 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv912999,nsv913000,nsv913001 M 6533 3 0 CDH4 IS41968,MS20702,MS20987 nsv180477 20 59697617 59697796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199055 M 24 CDH4 dgv4591n71 20 59697732 59730129 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913005,nsv913002 M 6533 2 0 CDH4 IS33600,IS38185 esv2166723 20 59698074 59698745 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780405 S 1 0 1 CDH4 NA18507 esv1968864 20 59698077 59698537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712540 S 1 0 1 CDH4 NA18507 esv2239488 20 59698481 59698833 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717153 S 1 0 1 CDH4 NA18507 dgv516n27 20 59701464 59738235 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459055,nsv459054,nsv459053 M 1557 3 0 CDH4 HGDP00033,HGDP00161,HGDP00208 nsv913003 20 59701521 59751589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531011 S 6533 0 1 CDH4 MS10311 esv268349 20 59702024 59702109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515897 S 157 1 0 Samples from several populations that are part of the HapMap project. CDH4 NA12873 nsv913004 20 59703182 59778109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543824 S 6533 0 1 CDH4 MS16153 dgv4592n71 20 59722273 59750613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913006,nsv913009,nsv913010,nsv913007,nsv913008 M 6533 0 26 CDH4 IS31021,IS31082,IS31757,IS34468,IS35131,IS35231,IS35242,IS35439,IS35671,IS35726,IS36777,IS37348,IS37860,IS38616,IS39626,IS40003,IS40245,IS40458,IS40556,IS40862,IS41061,IS41729,IS41949,MS10615,MS16368,MS25396 esv2421637 20 59723887 59749273 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027909,essv5005978,essv5027969,essv5151409,essv5020102,essv5117280,essv5114879,essv5154383,essv5020302,essv5158599,essv5032817,essv5109014 M 1184 0 12 CDH4 NA20847,NA20853,NA20869,NA20875,NA20884,NA21089,NA21091,NA21102,NA21103,NA21113,NA21119,NA21125 dgv517n27 20 59723887 59750613 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459056,nsv459058,nsv459057 M 1557 0 3 CDH4 HGDP00017,HGDP00230,HGDP00341 esv1004654 20 59732338 59732387 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573050 S 3 0 1 CDH4 HuRef esv26957 20 59732367 59732887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12897 S 451 0 1 CDH4 NA12044 esv1030240 20 59732407 59732407 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608702 S 2 1 0 CDH4 HuRef nsv913011 20 59741646 59766628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538752 S 6533 0 1 CDH4 MS13770 nsv913012 20 59741646 60083924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547060 S 6533 0 1 CDH4,MIR1257,TAF4 MS17208 nsv913013 20 59744596 59776967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589564 S 6533 1 0 CDH4 IS38382 nsv179193 20 59752804 59752879 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197771 M 24 CDH4 esv1524929 20 59752887 59752963 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832947 S 2 0 1 CDH4 HuRef nsv179156 20 59752964 59753040 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197734 M 24 CDH4 nsv178622 20 59757380 59757380 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197200 M 24 CDH4 esv1377539 20 59757382 59757382 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165257 S 2 1 0 CDH4 HuRef nsv3438 20 59765985 59800675 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1613 S 9 1 0 CDH4 NA19240 esv28660 20 59791904 59793294 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18758 S 451 1 0 CDH4 NA12004 esv991147 20 59792026 59792988 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564068 S 3 0 1 CDH4 HuRef nsv178561 20 59792752 59792814 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197139 M 24 CDH4 nsv179872 20 59792752 59792939 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198450 M 24 CDH4 nsv913014 20 59803163 59815142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532011 S 6533 0 1 CDH4 MS10698 dgv4593n71 20 59803163 59823241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913018,nsv913016,nsv913015 M 6533 0 4 CDH4 IS33684,IS38176,IS40396,MS16315 dgv4594n71 20 59803163 59969730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913017,nsv913020 M 6533 0 2 CDH4,MIR1257 MS10311,MS16153 nsv913019 20 59807059 59835673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592473 S 6533 0 1 CDH4 IS39233 nsv470555 20 59814082 59948670 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547383,nssv547382 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH4 HGDP00543,HGDP00546 esv2474289 20 59831519 59831958 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379782 S 1 1 0 CDH4 NA18507 nsv513554 20 59831768 59831845 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625968 S 1 1 0 CDH4 1 dgv4595n71 20 59855625 59900667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913021,nsv913022 M 6533 0 3 CDH4 IS33504,IS40799,MS18276 nsv913023 20 59855625 59948670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533818 S 6533 0 1 CDH4 MS11306 nsv178924 20 59863182 59863364 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197502 M 24 CDH4 nsv179279 20 59864819 59864917 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197857 M 24 CDH4 esv1006540 20 59865043 59865093 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570399 S 3 0 1 CDH4 HuRef esv1051351 20 59865043 59865094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847606 S 2 0 1 CDH4 HuRef nsv913024 20 59868877 59961492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532283 S 6533 1 0 CDH4 MS10737 dgv1340e1 20 59894657 60016638 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1845,essv6191,essv7377,essv4366,essv4796,essv6999,essv16945,esv146,essv20204,essv5396,essv3974 M 271 0 0 CDH4,MIR1257,TAF4 NA11832,NA18532,NA18563,NA18573,NA18612,NA18620,NA18623,NA18970,NA18976,NA19144 nsv428378 20 59894657 60016638 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453852,nssv453851 M 62 0 2 CDH4,MIR1257,TAF4 NA19147,NA19225 esv2384820 20 59897844 59898301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677001 S 1 0 1 CDH4 NA18507 esv2261889 20 59898277 59898867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686970 S 1 0 1 CDH4 NA18507 esv8027 20 59898339 59898694 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30468 S 1 0 1 CDH4 SJK nsv913025 20 59901255 59961492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550006 S 6533 0 1 CDH4 MS18276 nsv913026 20 59909555 60017343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534773 S 6533 0 1 CDH4,MIR1257,TAF4 MS11726 nsv509781 20 59920374 60059022 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623831 S 4 1 0 CDH4,MIR1257,TAF4 NA18994 dgv4596n71 20 59921258 59971673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913028,nsv913027 M 6533 0 3 CDH4,MIR1257 MS10123,MS11237,MS13727 nsv520753 20 59925890 59936745 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697591 S 2026 0 1 CDH4 nsv913029 20 59925890 59997019 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532536 S 6533 0 1 CDH4,MIR1257,TAF4 MS10769 esv2464264 20 59927972 59928785 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263080 S 1 1 0 CDH4 NA18507 esv4036 20 59928278 59928781 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26477 S 1 0 1 Single Asian sample YH CDH4 YH esv8975 20 59928431 59928510 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31416 S 1 1 0 CDH4 SJK esv1356276 20 59928555 59928934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588629 S 2 0 1 CDH4 HuRef esv1217882 20 59928950 59929028 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109054 S 2 0 1 CDH4 HuRef esv1590438 20 59929042 59929300 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986458 S 2 0 1 CDH4 HuRef nsv3439 20 59936789 59981429 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2342,nssv4547 M 9 0 2 CDH4,MIR1257 NA12878,NA18555 esv2035318 20 59941932 59942351 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612065 S 1 0 1 CDH4 NA18507 esv26213 20 59944426 59945084 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21220 S 451 1 0 CDH4 NA11894 esv1010035 20 59949392 59960747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565596 S 3 0 1 "" HuRef nsv9820 20 59950066 59957562 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27569,nssv22361,nssv22540,nssv24950,nssv25147,nssv25400,nssv25527,nssv25996,nssv24854,nssv27191,nssv24159,nssv25494,nssv26938,nssv26136,nssv24381,nssv25646,nssv28648,nssv27947,nssv21995,nssv27692,nssv25669 M 31 21 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA18942,NA18975,NA18980,NA19007,NA19132,NA19221 nsv821360 20 59951090 59957795 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420106 S 1 0 1 "" NA10851 esv27799 20 59951210 59957686 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18647 S 451 17 3 "" NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12776,NA12828,NA15510,NA18517,NA18523,NA18861,NA18907,NA19099,NA19129,NA19147,NA19190,NA19240 nsv179836 20 59953184 59953633 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198414 M 24 "" nsv179262 20 59956025 59956270 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197840 M 24 "" nsv514945 20 59957456 59957856 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627201 S 1414 0 0 "" esv2364753 20 59959599 59960193 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637550 S 1 0 1 "" NA18507 esv5429 20 59959656 59960074 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27870 S 1 0 1 Single Asian sample YH "" YH nsv179825 20 59959684 59959988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198403 M 24 "" nsv179722 20 59977187 59977274 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198300 M 24 "" esv25541 20 59979050 59980120 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15656 S 451 1 0 "" NA19225 nsv9821 20 59979109 59980654 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27700,nssv25144,nssv27716,nssv25425 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18552,NA18563,NA18972 esv2645658 20 59989864 59990747 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290210 S 1 1 0 TAF4 NA18507 esv1495793 20 59990624 59990624 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149010 S 2 1 0 TAF4 HuRef esv1724276 20 59990654 59990654 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260598 S 2 1 0 TAF4 HuRef esv1507005 20 59990679 59990679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362742 S 2 1 0 TAF4 HuRef esv2550695 20 60003561 60005306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247702 S 1 0 1 TAF4 NA18507 esv2375011 20 60003829 60004527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528167 S 1 0 1 TAF4 NA18507 esv4304 20 60003898 60004475 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26745 S 1 0 1 Single Asian sample YH TAF4 YH esv8279 20 60003982 60004352 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30720 S 1 0 1 TAF4 SJK nsv179612 20 60004020 60004338 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198190 M 24 TAF4 esv1640297 20 60004033 60004352 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726209 S 2 0 1 TAF4 HuRef nsv828768 20 60063364 60065184 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437155 S 31 1 0 TAF4 NA18542 esv999370 20 60063691 60063691 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570027 S 3 1 0 TAF4 HuRef esv2564070 20 60065623 60067844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237762 S 1 0 1 TAF4 NA18507 nsv512623 20 60065709 60067625 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625237 S 1 0 1 TAF4 1 esv25248 20 60066063 60067498 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10238 S 451 19 2 TAF4 NA07037,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18508,NA18511,NA18517,NA18909,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821030 20 60066063 60067788 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420107 S 1 0 1 TAF4 NA10851 nsv828769 20 60070532 60076586 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434116 S 31 1 0 TAF4 NA18526 esv23198 20 60072819 60075403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17806 S 451 0 3 TAF4 NA07045,NA12004,NA12489 dgv4597n71 20 60095481 60248841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913032,nsv913030,nsv913031 M 6533 0 3 GTPBP5,HRH3,LSM14B,OSBPL2,PSMA7,SS18L1 IS37646,IS39233,MS16153 esv1487286 20 60114309 60114309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857436 S 2 1 0 "" HuRef nsv913033 20 60116754 60198817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510404 S 6533 0 1 GTPBP5,LSM14B,PSMA7,SS18L1 SP54956 nsv509782 20 60134087 60188779 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619849 S 4 1 0 LSM14B,PSMA7,SS18L1 NA10860 esv1006840 20 60144595 60150018 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563707 S 3 0 1 PSMA7 HuRef nsv3440 20 60146156 60177923 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6947 S 9 1 0 PSMA7,SS18L1 NA12156 esv22512 20 60151800 60152906 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20697 S 451 0 1 PSMA7,SS18L1 NA07045 nsv913034 20 60162210 60199994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573994 S 6533 0 1 GTPBP5,SS18L1 IS33504 dgv4598n71 20 60162210 60241421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913035,nsv913038,nsv913039 M 6533 0 3 GTPBP5,HRH3,SS18L1 IS32841,IS34304,IS38176 dgv4599n71 20 60162210 60439246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913041,nsv913037,nsv913036,nsv913046 M 6533 0 5 ADRM1,C20orf151,CABLES2,GTPBP5,HRH3,LAMA5,MIR4758,OSBPL2,RPS21,SS18L1 IS32322,IS33684,IS41410,MS10769,MS11726 esv271804 20 60164431 60164795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510968,essv2501717,essv2502915,essv2503856,essv2511824,essv2502988,essv2496469,essv2500410,essv2508218,essv2499926,essv2511344,essv2494461,essv2500086,essv2508481,essv2509979,essv2499324,essv2512926,essv2507555,essv2506431,essv2497038,essv2502025,essv2499530 M 157 22 0 Samples from several populations that are part of the HapMap project. SS18L1 NA07357,NA11831,NA12144,NA12156,NA12761,NA18499,NA18507,NA18510,NA18537,NA18561,NA18562,NA18570,NA18572,NA18573,NA18582,NA18593,NA18605,NA18609,NA18638,NA19108,NA19190,NA19257 nsv913040 20 60175027 60260199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596097 S 6533 0 1 GTPBP5,HRH3,OSBPL2,SS18L1 IS40396 dgv4600n71 20 60184252 60248841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913042,nsv913043 M 6533 0 2 GTPBP5,HRH3,OSBPL2,SS18L1 IS39258,MS10311 nsv828770 20 60189847 60190989 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437156 S 31 1 0 SS18L1 NA18542 dgv4601n71 20 60195593 60354439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913045,nsv913044 M 6533 0 3 ADRM1,GTPBP5,HRH3,LAMA5,MIR4758,OSBPL2 IS33601,IS33797,MS17208 nsv518296 20 60211696 60423470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695727 S 2026 0 1 ADRM1,C20orf151,CABLES2,HRH3,LAMA5,MIR4758,OSBPL2,RPS21 nsv520792 20 60214968 60220455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675470,nssv693290 M 2026 0 2 "" nsv913047 20 60214968 60576985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573995 S 6533 0 1 ADRM1,C20orf151,C20orf166,C20orf166-AS1,CABLES2,GATA5,HRH3,LAMA5,MIR1-1,MIR133A2,MIR4758,OSBPL2,RPS21 IS33504 esv2422398 20 60216284 60775837 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161340 S 181 1 0 ADRM1,C20orf151,C20orf166,C20orf166-AS1,CABLES2,GATA5,HRH3,LAMA5,LOC100127888,MIR1-1,MIR133A2,MIR4758,OSBPL2,RPS21,SLCO4A1 ND01424 nsv511627 20 60220455 60222365 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626260 S 1 1 0 "" 1 nsv470556 20 60220455 60584935 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547400,nssv547405,nssv547391,nssv547395,nssv547392,nssv547384,nssv547393,nssv547388,nssv547389,nssv547398,nssv547386,nssv547402,nssv547399,nssv547385,nssv547397,nssv547396,nssv547394,nssv547406,nssv547403,nssv547387,nssv547404,nssv547407 M 443 0 20 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADRM1,C20orf151,C20orf166,C20orf166-AS1,CABLES2,GATA5,HRH3,LAMA5,MIR1-1,MIR133A2,MIR4758,OSBPL2,RPS21 HGDP00288,HGDP00290,HGDP00298,HGDP00313,HGDP00543,HGDP00546,HGDP00550,HGDP00556,HGDP00591,HGDP00657,HGDP00661,HGDP00825,HGDP00954,HGDP00956,HGDP00960,HGDP00962,HGDP00963,HGDP00978,HGDP01397,HGDP01412 esv24631 20 60221442 60222212 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19245 S 451 1 0 "" NA15510 nsv834024 20 60268365 60463973 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455157 S 95 1 0 ADRM1,C20orf151,CABLES2,LAMA5,MIR4758,OSBPL2,RPS21 esv1770279 20 60279159 60279223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923432 S 2 0 1 OSBPL2 HuRef nsv913048 20 60280481 60354439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533819,nssv1538453 M 6533 0 2 ADRM1,LAMA5,MIR4758,OSBPL2 MS11306,MS13727 dgv4602n71 20 60280481 60439246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913054,nsv913051,nsv913049,nsv913050 M 6533 0 4 ADRM1,C20orf151,CABLES2,LAMA5,MIR4758,OSBPL2,RPS21 IS32841,IS33162,IS37646,MS10204 esv1677600 20 60286816 60287043 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653718 S 2 0 1 OSBPL2 HuRef nsv913052 20 60300986 60436426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570113 S 6533 1 0 ADRM1,C20orf151,CABLES2,LAMA5,MIR4758,OSBPL2,RPS21 IS31800 nsv913053 20 60300986 60437537 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571587,nssv1538753,nssv1573154 M 6533 1 2 ADRM1,C20orf151,CABLES2,LAMA5,MIR4758,OSBPL2,RPS21 IS32737,IS33243,MS13770 dgv4603n71 20 60300986 60948657 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913055,nsv913069,nsv913065,nsv913063 M 6533 0 4 ADRM1,C20orf151,C20orf166,C20orf166-AS1,C20orf20,CABLES2,COL9A3,DPH3P1,GATA5,LAMA5,LOC100127888,MIR1-1,MIR133A2,MIR4758,NTSR1,OGFR,OSBPL2,RPS21,SLCO4A1,TCFL5 IS39233,MS10311,MS16153,MS18276 nsv913056 20 60301940 60320976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510405 S 6533 0 1 ADRM1,LAMA5,OSBPL2 SP54956 nsv3441 20 60306354 60328510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5888 S 9 1 0 ADRM1,LAMA5 NA19129 dgv4604n71 20 60309316 60323770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913058,nsv913057 M 6533 0 4 ADRM1,LAMA5 SP54725,SP55021,SP55717,SP55992 nsv913059 20 60309316 60378198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511107 S 6533 0 1 ADRM1,LAMA5,MIR4758 SP54988 nsv817907 20 60320976 60329092 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417143 S 112 0 1 LAMA5 NA18542 nsv817908 20 60320976 60390312 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417543,nssv1417955 M 112 0 2 LAMA5,MIR4758 NA18853,NA18971 nsv470557 20 60320976 60423470 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547408,nssv547410,nssv547409 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf151,CABLES2,LAMA5,MIR4758,RPS21 HGDP00462,HGDP00937,HGDP00938 nsv520024 20 60320976 60437537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673448,nssv688686,nssv662749,nssv688745,nssv705135,nssv700060,nssv660129,nssv687089 M 2026 0 8 C20orf151,CABLES2,LAMA5,MIR4758,RPS21 nsv459059 20 60323959 60386791 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535900 S 1557 0 1 LAMA5,MIR4758 NINDS_119 dgv518n27 20 60323959 60421405 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459060,nsv459062,nsv459061 M 1557 0 3 C20orf151,CABLES2,LAMA5,MIR4758,RPS21 HGDP00433,HGDP00491,HGDP01351 dgv4605n71 20 60323959 60439509 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913062,nsv913061,nsv913060,nsv913068,nsv913064 M 6533 0 7 C20orf151,CABLES2,LAMA5,MIR4758,RPS21 IS30197,IS39417,IS40396,MS10123,MS10386,MS16315,MS17208 esv2558907 20 60325261 60329585 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350718 S 1 0 1 LAMA5 NA18507 nsv913066 20 60330883 60345512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500164 S 6533 0 1 LAMA5,MIR4758 SP50159 nsv913067 20 60330883 60368342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509388 S 6533 0 1 LAMA5,MIR4758 SP54782 nsv459065 20 60340841 60913992 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535905 S 1557 1 0 C20orf151,C20orf166,C20orf166-AS1,C20orf20,CABLES2,GATA5,LAMA5,LOC100127888,MIR1-1,MIR133A2,MIR4758,NTSR1,OGFR,RPS21,SLCO4A1 NINDS_83 esv1010421 20 60341402 60341404 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579771 S 3 1 0 LAMA5 HuRef nsv828771 20 60343812 60344622 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422309 S 31 1 0 LAMA5 NA18997 nsv828772 20 60346918 60354214 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437157 S 31 1 0 LAMA5 NA18542 nsv828773 20 60347047 60354214 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435582 S 31 0 1 LAMA5 NA18942 nsv179849 20 60350299 60352225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198427 M 24 LAMA5 nsv913071 20 60354439 60430435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582862 S 6533 1 0 C20orf151,CABLES2,LAMA5,RPS21 IS36183 dgv4606n71 20 60354439 60436426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913070,nsv913072 M 6533 0 2 C20orf151,CABLES2,LAMA5,RPS21 IS30369,IS34235 esv1008423 20 60358111 60358134 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563669 S 3 1 0 LAMA5 HuRef esv2177143 20 60381495 60381868 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874606 S 1 0 1 "" NA18507 esv1628172 20 60381657 60381719 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882221 S 2 0 1 "" HuRef esv2780 20 60381867 60382332 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25221 S 1 0 1 Single Asian sample YH "" YH nsv180561 20 60381879 60382018 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199139 M 24 "" nsv828774 20 60386610 60413030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435583 S 31 0 1 CABLES2,RPS21 NA18942 esv2649718 20 60390346 60391023 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180244 S 1 1 0 "" NA18507 nsv820130 20 60390741 60390768 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418906 S 2 1 0 "" AK1 nsv513555 20 60390782 60391038 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625969 S 1 1 0 "" 1 esv1055001 20 60392139 60392139 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952911 S 2 1 0 "" HuRef nsv459067 20 60396019 60423470 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535906 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf151,CABLES2,RPS21 HGDP00655 nsv913073 20 60396019 61469752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580967 S 6533 0 1 ARFGAP1,BHLHE23,BIRC7,C20orf11,C20orf151,C20orf166,C20orf166-AS1,C20orf20,CABLES2,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,FLJ16779,GATA5,HAR1A,HAR1B,LINC00029,LOC100127888,LOC100144597,LOC63930,MIR1-1,MIR124-3,MIR133A2,MIR3196,MIR4326,NKAIN4,NTSR1,OGFR,RPS21,SLC17A9,SLCO4A1,TCFL5,YTHDF1 IS35484 nsv828776 20 60397033 60397533 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422496 S 31 1 0 CABLES2 NA18969 dgv4607n71 20 60404722 60439246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913076,nsv913074 M 6533 0 3 C20orf151,CABLES2 SP51109,SP54988,SP55021 nsv913075 20 60409427 60425797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506128 S 6533 0 1 C20orf151,CABLES2 SP54043 nsv913077 20 60409427 60486288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510406 S 6533 0 1 C20orf151,CABLES2,GATA5 SP54956 esv1285282 20 60426431 60426431 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932687 S 2 1 0 C20orf151 HuRef esv1744911 20 60431073 60431073 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072996 S 2 1 0 C20orf151 HuRef dgv4608n71 20 60440775 60576985 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913096,nsv913085,nsv913084,nsv913091,nsv913080,nsv913090,nsv913088,nsv913095,nsv913089,nsv913078 M 6533 0 10 C20orf166,C20orf166-AS1,GATA5,MIR1-1,MIR133A2 IS32841,IS33684,IS34235,IS37646,IS40799,MS11306,MS13095,MS13727,MS13770,MS17208 nsv913079 20 60442015 60462381 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586256 S 6533 1 0 "" IS37704 dgv4609n71 20 60450657 60501042 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913081,nsv913094,nsv913087,nsv913082 M 6533 0 5 GATA5 IS32918,IS33162,IS33630,IS34005,IS41634 nsv913083 20 60450657 60521561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570862 S 6533 0 1 GATA5 IS32322 dgv4610n71 20 60450657 60615258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913086,nsv913093,nsv913092,nsv913097,nsv913098 M 6533 0 5 C20orf166,C20orf166-AS1,GATA5,MIR1-1,MIR133A2 IS40230,MS10123,MS10126,MS10769,MS11237 nsv459068 20 60452619 60584935 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535907 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf166,C20orf166-AS1,GATA5,MIR1-1,MIR133A2 HGDP01181 esv1301189 20 60454637 60454637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816803 S 2 1 0 "" HuRef nsv437188 20 60457457 60465103 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467069 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 dgv1341e1 20 60464834 60524832 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8384,essv1842,essv4153,essv17629,essv21688,essv20369,essv6219,essv24528,essv9351,essv14128,essv7103,essv22177,essv3401,essv1999,essv662,essv2691 M 271 0 0 GATA5 NA10830,NA10857,NA12248,NA12753,NA12802,NA18537,NA18555,NA18636,NA18853,NA18858,NA18861,NA18945,NA18949,NA18967,NA18975,NA18976 essv22589 20 60464834 60583327 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C20orf166,C20orf166-AS1,GATA5,MIR1-1,MIR133A2 NA07348 dgv4611n71 20 60478969 60576985 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913100,nsv913099 M 6533 0 4 C20orf166,C20orf166-AS1,GATA5,MIR1-1,MIR133A2 IS34908,IS38403,IS39258,MS11467 esv2534988 20 60505316 60507651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208727 S 1 0 1 "" NA18507 esv23986 20 60506171 60507253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13010 S 451 0 1 "" NA11993 esv1432166 20 60507273 60507369 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638080 S 2 0 1 "" HuRef nsv513556 20 60512104 60512353 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625970 S 1 1 0 "" 1 esv2571593 20 60512364 60513131 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374226 S 1 1 0 "" NA18507 nsv913101 20 60524384 60605183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588281 S 6533 0 1 C20orf166,C20orf166-AS1,MIR1-1,MIR133A2 IS38176 nsv913103 20 60560140 60575198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499247 S 6533 0 1 C20orf166,MIR1-1,MIR133A2 SP50159 dgv4612n71 20 60589438 60821530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913105,nsv913104,nsv913107 M 6533 0 3 LOC100127888,NTSR1,SLCO4A1 IS32322,MS17208,SP54956 esv25024 20 60602410 60604315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20529 S 451 0 1 "" NA19129 esv1042734 20 60614298 60614298 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024689 S 2 1 0 "" HuRef nsv913106 20 60615258 60876035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586102 S 6533 0 1 LOC100127888,NTSR1,SLCO4A1 IS37646 dgv1343e1 20 60733815 60897084 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7020,essv6148,essv8131,essv4079,essv10415 M 271 0 0 LOC100127888,NTSR1,SLCO4A1 NA18532,NA18612,NA18635,NA19206,NA19222 nsv428380 20 60733815 61037180 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453855 S 62 0 1 C20orf20,COL9A3,DIDO1,DPH3P1,LOC100127888,NTSR1,OGFR,SLCO4A1,TCFL5 NA19113 nsv834026 20 60738088 60897084 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455158,nssv1455164,nssv1455162,nssv1455163,nssv1455161,nssv1455160,nssv1455159 M 95 0 7 LOC100127888,NTSR1,SLCO4A1 esv994234 20 60757119 60757174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572502 S 3 0 1 SLCO4A1 HuRef esv1387013 20 60757125 60757181 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753650 S 2 0 1 SLCO4A1 HuRef nsv913108 20 60758172 60882618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575220 S 6533 0 1 LOC100127888,NTSR1,SLCO4A1 IS33684 nsv9822 20 60773792 60776229 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26528 S 31 1 0 Samples from several populations that are part of the HapMap project. SLCO4A1 NA19144 nsv828777 20 60774376 60775323 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431756 S 31 1 0 "" AK18 dgv707n67 20 60774523 60775659 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828781,nsv828780,nsv828779,nsv828778 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820862 20 60774523 60775659 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420108 S 1 0 1 "" NA10851 nsv512624 20 60774531 60775586 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625238 S 1 0 1 "" 1 esv27357 20 60774613 60775623 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18094 S 451 23 1 "" NA06985,NA07037,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12287,NA12489,NA12828,NA18502,NA18508,NA18511,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv992076 20 60774695 60775583 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583867 S 3 0 1 "" HuRef esv2066878 20 60783219 60783558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740625 S 1 0 1 "" NA18507 nsv3442 20 60784567 60816744 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3067,nssv6948 M 9 2 0 NTSR1 NA12156,NA18555 nsv913109 20 60785849 60819406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572169,nssv1589782,nssv1571588 M 6533 0 3 NTSR1 IS32737,IS32888,IS38403 dgv4613n71 20 60785849 60888927 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913110,nsv913113,nsv913118 M 6533 0 3 NTSR1 IS33504,MS10769,MS13770 dgv4614n71 20 60785849 60984094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913111,nsv913112,nsv913119 M 6533 0 3 C20orf20,COL9A3,DIDO1,DPH3P1,NTSR1,OGFR,TCFL5 MS16153,MS17208,MS18276 nsv470558 20 60793863 60936313 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547411 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf20,COL9A3,NTSR1,OGFR HGDP00543 dgv4615n71 20 60797591 60846572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913114,nsv913115,nsv913116,nsv913117 M 6533 0 5 NTSR1 IS41243,MS10386,MS11306,MS11726,MS16315 esv2186761 20 60800435 60800883 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847185 S 1 0 1 "" NA18507 esv988908 20 60800601 60800700 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565902 S 3 0 1 "" HuRef nsv834027 20 60809452 60976711 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455165,nssv1455166 M 95 0 2 C20orf20,COL9A3,DPH3P1,NTSR1,OGFR,TCFL5 dgv4616n71 20 60823966 60876035 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913121,nsv913122,nsv913123,nsv913120 M 6533 0 7 NTSR1 IS30197,IS32322,IS33162,IS34005,IS34235,IS34304,IS35007 nsv521375 20 60836902 60844639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697985 S 2026 0 1 NTSR1 nsv515840 20 60839917 60844639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668049,nssv664986,nssv680630,nssv689762,nssv679592 M 2026 0 5 NTSR1 esv25803 20 60842625 60845445 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17113 S 451 0 6 NTSR1 NA07045,NA18907,NA18909,NA18916,NA19114,NA19190 dgv708n67 20 60842805 60845492 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828783,nsv828787,nsv828782,nsv828788,nsv828784,nsv828785 M 31 0 8 NTSR1 AK20,NA18552,NA18566,NA18570,NA18582,NA18592,NA18968,NA18997 nsv9823 20 60842942 60845446 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27577,nssv24185 M 31 0 2 Samples from several populations that are part of the HapMap project. NTSR1 NA18942,NA19132 esv4782 20 60843020 60845300 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27223 S 1 0 1 Single Asian sample YH NTSR1 YH esv9171 20 60843074 60845213 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31612 S 1 0 1 NTSR1 SJK nsv828789 20 60843365 60843932 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426306 S 31 0 1 NTSR1 AK4 nsv828790 20 60843365 60845194 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431758 S 31 0 1 NTSR1 AK18 esv2645365 20 60848606 60850048 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335793 S 1 0 1 NTSR1 NA18507 esv1917595 20 60848940 60849450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554536 S 1 0 1 NTSR1 NA18507 nsv516618 20 60853112 60877521 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669601,nssv686741 M 2026 0 2 NTSR1 nsv828791 20 60875523 60880586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431475 S 31 0 1 "" NA18947 nsv9825 20 60877267 61703127 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27791,nssv28649 M 31 2 0 Samples from several populations that are part of the HapMap project. ARFGAP1,BHLHE23,BIRC7,C20orf11,C20orf195,C20orf20,CHRNA4,COL20A1,COL9A3,DIDO1,DPH3P1,EEF1A2,FLJ16779,GMEB2,HAR1A,HAR1B,KCNQ2,LINC00029,LOC100144597,LOC63930,MIR124-3,MIR3196,MIR4326,NKAIN4,OGFR,PPDPF,PRIC285,PTK6,SLC17A9,SRMS,TCFL5,YTHDF1 NA18502,NA19221 nsv913124 20 60882618 60997823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586103 S 6533 0 1 C20orf20,COL9A3,DIDO1,DPH3P1,OGFR,TCFL5 IS37646 nsv913125 20 60897530 60913409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510408,nssv1507680 M 6533 0 2 C20orf20,OGFR SP54725,SP54956 nsv828792 20 60900148 60902674 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435586 S 31 0 1 C20orf20 NA18942 nsv828793 20 60901182 60902826 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437159 S 31 1 0 C20orf20 NA18542 nsv913126 20 60912806 60931536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517493 S 6533 0 1 COL9A3,OGFR SP57292 nsv913127 20 60918204 61059190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570865 S 6533 0 1 C20orf11,COL9A3,DIDO1,DPH3P1,SLC17A9,TCFL5 IS32322 esv1317287 20 60926925 60926997 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047584 S 2 0 1 COL9A3 HuRef nsv828794 20 60934755 60981832 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435587 S 31 0 1 COL9A3,DIDO1,DPH3P1,TCFL5 NA18942 esv2259099 20 60941291 60941759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706823 S 1 0 1 COL9A3 NA18507 esv268658 20 60951844 60955168 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516427 S 157 1 0 Samples from several populations that are part of the HapMap project. TCFL5 NA12814 nsv913128 20 60964670 61121787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531015 S 6533 0 1 BHLHE23,C20orf11,DIDO1,LOC63930,SLC17A9 MS10311 nsv913129 20 60974283 60997823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550009 S 6533 0 1 DIDO1 MS18276 nsv513558 20 60976836 60977318 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626810 S 1 1 0 "" 1 esv1679513 20 60977026 60977307 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840238 S 2 0 1 "" HuRef esv32958 20 60991659 61035065 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94135 S 51 0 1 DIDO1 21802 nsv913130 20 61021751 61064878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595453 S 6533 0 1 C20orf11,DIDO1,SLC17A9 IS40230 dgv4617n71 20 61021751 61164051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913132,nsv913131 M 6533 0 2 BHLHE23,C20orf11,DIDO1,LINC00029,LOC100144597,LOC63930,SLC17A9 IS33239,IS34235 nsv459069 20 61031598 61069919 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535908 S 1557 1 0 C20orf11,DIDO1,SLC17A9 1782681096_A dgv4618n71 20 61031598 61857331 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913133,nsv913164 M 6533 0 2 ARFGAP1,ARFRP1,BHLHE23,BIRC7,C20orf11,C20orf195,CHRNA4,COL20A1,DIDO1,EEF1A2,FLJ16779,GMEB2,HAR1A,HAR1B,KCNQ2,LIME1,LINC00029,LOC100144597,LOC63930,MIR124-3,MIR3196,MIR4326,NKAIN4,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC17A9,SLC2A4RG,SRMS,STMN3,TNFRSF6B,YTHDF1,ZBTB46,ZGPAT IS37646,IS39233 dgv4619n71 20 61047720 61070635 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913134,nsv913135 M 6533 0 2 C20orf11,SLC17A9 IS40799,MS13095 nsv470559 20 61047720 61076763 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547414,nssv547413 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf11,SLC17A9 HGDP00546,HGDP00657 dgv4620n71 20 61047720 61083073 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913138,nsv913137,nsv913136 M 6533 0 4 C20orf11,SLC17A9 IS30197,IS31082,MS11237,MS13727 dgv4621n71 20 61047720 61094433 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913139,nsv913147 M 6533 0 3 C20orf11,SLC17A9 IS32888,MS13770,MS16315 dgv4622n71 20 61047720 61149452 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913142,nsv913141,nsv913143,nsv913140 M 6533 0 4 BHLHE23,C20orf11,LINC00029,LOC100144597,LOC63930,SLC17A9 IS33248,IS39233,IS41410,MS18276 dgv4623n71 20 61047720 61208831 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913149,nsv913148,nsv913151,nsv913144 M 6533 0 5 BHLHE23,C20orf11,HAR1A,HAR1B,LINC00029,LOC100144597,LOC63930,SLC17A9 IS32737,IS32841,IS33504,MS16153,MS17208 nsv913145 20 61053653 61065982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511109 S 6533 0 1 SLC17A9 SP54988 nsv179331 20 61055926 61055978 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197909 M 24 SLC17A9 nsv459070 20 61056151 61069919 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535909 S 1557 0 1 SLC17A9 1780862021_A nsv913146 20 61056151 61076214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598035 S 6533 0 1 SLC17A9 IS41243 esv1007297 20 61062788 61062867 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575133 S 3 0 1 SLC17A9 HuRef esv1591688 20 61062866 61062946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118231 S 2 0 1 SLC17A9 HuRef nsv913150 20 61063031 61091802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532012 S 6533 0 1 SLC17A9 MS10698 esv24663 20 61067895 61068395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9880 S 451 0 1 SLC17A9 NA19190 esv1395020 20 61067936 61068101 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668382 S 2 0 1 SLC17A9 HuRef esv8507 20 61073530 61074102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30948 S 1 0 1 "" SJK esv3568 20 61077811 61078093 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26009 S 1 0 1 Single Asian sample YH "" YH nsv834028 20 61079458 61234048 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455178,nssv1455174,nssv1455182,nssv1455177,nssv1455175,nssv1455176,nssv1455192,nssv1455191,nssv1455179,nssv1455181,nssv1455180,nssv1455193,nssv1455184,nssv1455173,nssv1455189,nssv1455183,nssv1455190,nssv1455194,nssv1455185,nssv1455172,nssv1455167,nssv1455188,nssv1455169,nssv1455171,nssv1455168,nssv1455186,nssv1455187,nssv1455170 M 95 0 28 BHLHE23,HAR1A,HAR1B,LINC00029,LOC100144597,LOC63930 nsv179763 20 61088216 61088372 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198341 M 24 "" esv1663579 20 61088426 61088426 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824373 S 2 1 0 "" HuRef esv1312300 20 61088441 61088441 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3900965 S 2 1 0 "" HuRef esv1579583 20 61091872 61091872 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341789 S 2 1 0 "" HuRef esv25334 20 61094350 61095735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17430 S 451 0 1 "" NA19225 esv1763320 20 61095360 61095360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922860 S 2 1 0 "" HuRef esv1154041 20 61095387 61095387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939809 S 2 1 0 "" HuRef nsv913152 20 61112293 61137382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511621 S 6533 0 1 LINC00029,LOC63930 SP55021 nsv523875 20 61112293 61153201 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699717 S 2026 1 0 LINC00029,LOC100144597,LOC63930 dgv4624n71 20 61112293 61179572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913153,nsv913156,nsv913155 M 6533 0 3 LINC00029,LOC100144597,LOC63930 IS32322,IS39258,MS16315 dgv4625n71 20 61112293 61208733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913159,nsv913158,nsv913157,nsv913154 M 6533 0 5 HAR1A,HAR1B,LINC00029,LOC100144597,LOC63930 IS33178,IS34407,IS38176,IS41243,SP54988 nsv527759 20 61114775 61121787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704246 S 2026 0 1 LOC63930 esv2630879 20 61129518 61130158 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317168 S 1 1 0 LOC63930 NA18507 esv1214704 20 61130782 61130782 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252402 S 2 1 0 LOC63930 HuRef nsv913160 20 61142133 61208831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550011 S 6533 0 1 HAR1A,HAR1B,LOC100144597,LOC63930 MS18276 esv2227884 20 61146847 61147288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782441 S 1 0 1 LOC100144597,LOC63930 NA18507 nsv913161 20 61149452 61425120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538757 S 6533 0 1 ARFGAP1,BIRC7,COL20A1,FLJ16779,HAR1A,HAR1B,LOC100144597,LOC63930,MIR124-3,MIR3196,MIR4326,NKAIN4,YTHDF1 MS13770 nsv513559 20 61149998 61151226 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626811 S 1 1 0 LOC100144597,LOC63930 1 nsv509783 20 61155892 61201975 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619850 S 4 1 0 HAR1B,LOC63930 NA10860 esv1574391 20 61160990 61160990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987349 S 2 1 0 LOC63930 HuRef nsv913162 20 61166180 61208831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575221 S 6533 0 1 HAR1A,HAR1B,LOC63930 IS33684 esv1075800 20 61170535 61170535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875684 S 2 1 0 LOC63930 HuRef esv1557858 20 61170556 61170556 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060918 S 2 1 0 LOC63930 HuRef dgv68n68 20 61178258 61326392 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv834029,nsv834030 M 95 0 31 HAR1A,HAR1B,LOC63930,MIR124-3,YTHDF1 nsv179242 20 61181353 61189084 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197820 M 24 LOC63930 esv2219438 20 61186472 61186930 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595752 S 1 0 1 LOC63930 NA18507 nsv913163 20 61189376 61229362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531016 S 6533 0 1 HAR1A,HAR1B MS10311 nsv180474 20 61192017 61192115 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199052 M 24 "" esv2555712 20 61194545 61196606 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232367 S 1 0 1 "" NA18507 nsv512625 20 61194674 61196050 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625239 S 1 0 1 "" 1 esv2180497 20 61194955 61196223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966126 S 1 0 1 "" NA18507 esv2562739 20 61195005 61197247 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193163 S 1 0 1 "" NA18507 esv3042 20 61195061 61196134 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25483 S 1 0 1 Single Asian sample YH "" YH nsv179318 20 61195144 61196041 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197896 M 24 "" esv6279 20 61195154 61196050 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28720 S 1 0 1 "" SJK dgv709n67 20 61195163 61196042 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828795,nsv828796 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv24157 20 61195163 61196042 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12892 S 451 16 0 "" NA11993,NA12006,NA12044,NA12239,NA12828,NA15510,NA18502,NA18505,NA18508,NA18523,NA18916,NA19108,NA19114,NA19129,NA19190,NA19240 nsv820367 20 61195163 61196042 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420109 S 1 0 1 "" NA10851 esv32949 20 61195187 61195962 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97364 S 51 0 1 "" 21879 nsv3444 20 61197718 61205825 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5889 S 9 1 0 HAR1A,HAR1B NA19129 esv1000562 20 61203429 61207070 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564842 S 3 1 0 HAR1A,HAR1B HuRef nsv513560 20 61203523 61203610 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626812 S 1 1 0 HAR1A,HAR1B 1 esv2537683 20 61204108 61206215 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299005 S 1 0 1 HAR1A,HAR1B NA18507 nsv518687 20 61209560 61224493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694066 S 2026 0 1 "" nsv913165 20 61209792 61624230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543830 S 6533 0 1 ARFGAP1,BIRC7,CHRNA4,COL20A1,EEF1A2,FLJ16779,KCNQ2,MIR124-3,MIR3196,MIR4326,NKAIN4,PPDPF,YTHDF1 MS16153 nsv913166 20 61229362 61519098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576796 S 6533 0 1 ARFGAP1,BIRC7,CHRNA4,COL20A1,FLJ16779,KCNQ2,MIR124-3,MIR3196,MIR4326,NKAIN4,YTHDF1 IS34235 nsv834031 20 61234049 61347722 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455230,nssv1455242,nssv1455250,nssv1455241,nssv1455285,nssv1455256,nssv1455282,nssv1455284,nssv1455283,nssv1455232,nssv1455245,nssv1455239,nssv1455290,nssv1455240,nssv1455278,nssv1455276,nssv1455243,nssv1455244,nssv1455280,nssv1455279,nssv1455248,nssv1455238,nssv1455246,nssv1455281,nssv1455251,nssv1455286,nssv1455255,nssv1455289,nssv1455229,nssv1455231,nssv1455287,nssv1455288,nssv1455252,nssv1455228,nssv1455254,nssv1455253,nssv1455291,nssv1455259,nssv1455277,nssv1455264,nssv1455257,nssv1455237,nssv1455227,nssv1455295,nssv1455275,nssv1455258,nssv1455260,nssv1455263,nssv1455262,nssv1455261,nssv1455268,nssv1455236,nssv1455249,nssv1455294,nssv1455274,nssv1455267,nssv1455266,nssv1455265,nssv1455273,nssv1455271,nssv1455235,nssv1455270,nssv1455293,nssv1455269,nssv1455233,nssv1455247,nssv1455234,nssv1455292,nssv1455226,nssv1455272 M 95 0 70 BIRC7,MIR124-3,MIR3196,NKAIN4,YTHDF1 esv27079 20 61236290 61237386 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12615 S 451 21 0 "" NA11894,NA11995,NA12156,NA12414,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv1327217 20 61236453 61236453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909451 S 2 1 0 "" HuRef esv1099979 20 61236524 61236524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227526 S 2 1 0 "" HuRef nsv3445 20 61255441 61276259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4548,nssv3068,nssv1614 M 9 3 0 "" NA12878,NA18555,NA19240 dgv519n27 20 61256104 61350614 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459071,nsv459072 M 1557 0 2 BIRC7,MIR124-3,MIR3196,NKAIN4,YTHDF1 1780854231_A,HGDP01079 esv4800 20 61258581 61259131 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27241 S 1 0 1 Single Asian sample YH "" YH dgv4626n71 20 61261061 61435952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913169,nsv913168,nsv913167,nsv913170 M 6533 0 4 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR124-3,MIR3196,MIR4326,NKAIN4,YTHDF1 IS33504,IS34304,MS11306,MS13095 esv1001038 20 61268387 61269241 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565156 S 3 1 0 "" HuRef dgv4627n71 20 61291709 61394869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913173,nsv913171 M 6533 0 2 ARFGAP1,BIRC7,FLJ16779,MIR3196,MIR4326,NKAIN4,YTHDF1 IS33684,IS39417 nsv828798 20 61296063 61303926 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435589 S 31 0 1 YTHDF1 NA18942 nsv527884 20 61310030 61323074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704386 S 2026 0 1 YTHDF1 dgv4628n71 20 61310030 61376633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913172,nsv913175 M 6533 0 3 ARFGAP1,BIRC7,FLJ16779,MIR3196,NKAIN4,YTHDF1 IS41243,MS11237,MS19488 dgv4629n71 20 61310030 61425120 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913176,nsv913174 M 6533 0 3 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4,YTHDF1 IS30197,IS33601,MS11579 nsv834032 20 61315794 61409958 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455308,nssv1455297,nssv1455298,nssv1455301,nssv1455307,nssv1455299,nssv1455300,nssv1455302,nssv1455303,nssv1455305,nssv1455314,nssv1455313,nssv1455309,nssv1455304,nssv1455312,nssv1455310,nssv1455311,nssv1455322,nssv1455316,nssv1455296,nssv1455315,nssv1455318,nssv1455317,nssv1455321,nssv1455320,nssv1455319,nssv1455323,nssv1455306,nssv1455324,nssv1455327,nssv1455328,nssv1455325,nssv1455326 M 95 0 33 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4,YTHDF1 dgv520n27 20 61319068 61366365 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459075,nsv459073 M 1557 0 2 BIRC7,FLJ16779,MIR3196,NKAIN4 1780862585_A,HGDP00892 nsv517648 20 61323074 61349395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652665,nssv656492,nssv656262,nssv698957,nssv679127 M 2026 0 5 BIRC7,MIR3196,NKAIN4 nsv819591 20 61323074 61349395 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418833 S 2 1 0 BIRC7,MIR3196,NKAIN4 AK1 nsv518905 20 61323074 61366354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696363 S 2026 0 1 BIRC7,FLJ16779,MIR3196,NKAIN4 nsv470560 20 61323074 61417527 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547420,nssv547418,nssv547422,nssv547421,nssv547415,nssv547424,nssv547417,nssv547416,nssv547419 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4 HGDP00313,HGDP00550,HGDP00556,HGDP00605,HGDP00661,HGDP00697,HGDP00789,HGDP00825,HGDP00978 nsv525279 20 61323074 61425120 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701382 S 2026 0 1 ARFGAP1,BIRC7,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4 esv3995 20 61323297 61323629 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26436 S 1 0 1 Single Asian sample YH "" YH nsv180553 20 61323428 61323553 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199131 M 24 "" nsv913177 20 61327997 61479419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532540 S 6533 0 1 ARFGAP1,BIRC7,CHRNA4,COL20A1,FLJ16779,MIR3196,MIR4326,NKAIN4 MS10769 dgv4630n71 20 61327997 61624230 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913179,nsv913178 M 6533 0 2 ARFGAP1,BIRC7,CHRNA4,COL20A1,EEF1A2,FLJ16779,KCNQ2,MIR3196,MIR4326,NKAIN4,PPDPF MS16315,MS18276 nsv913180 20 61334400 61350614 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509389 S 6533 0 1 BIRC7,MIR3196,NKAIN4 SP54782 nsv513561 20 61336351 61337588 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626813 S 1 1 0 "" 1 nsv820146 20 61337899 61349395 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418855 S 2 1 0 BIRC7,MIR3196,NKAIN4 AK1 nsv3446 20 61339561 61384312 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7702 S 9 0 1 ARFGAP1,BIRC7,FLJ16779,MIR3196,NKAIN4 NA12156 nsv522880 20 61340910 61366354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698536 S 2026 0 1 BIRC7,FLJ16779,NKAIN4 nsv913181 20 61342754 61420590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510409 S 6533 0 1 ARFGAP1,COL20A1,FLJ16779,MIR4326,NKAIN4 SP54956 dgv4631n71 20 61350614 61709865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913187,nsv913182,nsv913185 M 6533 0 3 ARFGAP1,C20orf195,CHRNA4,COL20A1,EEF1A2,FLJ16779,GMEB2,KCNQ2,MIR4326,NKAIN4,PPDPF,PRIC285,PTK6,SRMS IS39417,MS10126,MS10311 esv32831 20 61354259 61358066 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101497,essv94820,essv101358,essv97347,essv93550,essv93315,essv100441,essv96357 M 51 0 8 FLJ16779,NKAIN4 21603,21791,21805,21879,22128,22170,22300,22371 esv1396774 20 61368473 61368530 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079622 S 2 0 1 "" HuRef nsv913183 20 61369073 61449668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511111 S 6533 0 1 ARFGAP1,CHRNA4,COL20A1,MIR4326 SP54988 dgv4632n71 20 61376633 61547581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913186,nsv913184 M 6533 0 2 ARFGAP1,CHRNA4,COL20A1,KCNQ2,MIR4326 MS11726,MS13727 esv1600196 20 61406226 61406386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320759 S 2 0 1 COL20A1 HuRef nsv178954 20 61437029 61437029 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197532 M 24 "" nsv179358 20 61437624 61437680 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197936 M 24 "" nsv179313 20 61437660 61437716 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197891 M 24 "" nsv913188 20 61440620 61519098 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564436 S 6533 1 0 CHRNA4,KCNQ2 IS30210 nsv913189 20 61440620 61608092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584890 S 6533 0 1 CHRNA4,EEF1A2,KCNQ2 IS37172 nsv913190 20 61440620 62221898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547067 S 6533 0 1 ABHD16B,ARFRP1,C20orf195,C20orf201,CHRNA4,DNAJC5,EEF1A2,GMEB2,KCNQ2,LIME1,LINC00176,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,NPBWR2,OPRL1,PPDPF,PRIC285,PRPF6,PTK6,RGS19,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC2A4RG,SOX18,SRMS,STMN3,TCEA2,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,ZBTB46,ZGPAT,ZNF512B MS17208 dgv4633n71 20 61449668 61701418 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913196,nsv913197,nsv913191,nsv913192,nsv913193,nsv913194 M 6533 0 7 C20orf195,CHRNA4,EEF1A2,GMEB2,KCNQ2,PPDPF,PRIC285,PTK6,SRMS IS32737,IS34304,IS35484,IS40230,MS10698,MS13770,SP54956 nsv828799 20 61451511 61452241 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430276 S 31 1 0 CHRNA4 AK14 nsv180574 20 61452933 61452933 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199152 M 24 CHRNA4 esv1436907 20 61453024 61453024 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997830 S 2 1 0 CHRNA4 HuRef esv1443132 20 61455713 61455713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973296 S 2 1 0 CHRNA4 HuRef esv1299744 20 61456066 61456066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213416 S 2 1 0 CHRNA4 HuRef esv1058695 20 61456072 61456072 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621036 S 2 1 0 CHRNA4 HuRef esv1955955 20 61458751 61459227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734267 S 1 0 1 CHRNA4 NA18507 esv3964 20 61458891 61459111 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26405 S 1 0 1 Single Asian sample YH CHRNA4 YH nsv513562 20 61463949 61464113 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626814 S 1 1 0 "" 1 nsv470562 20 61464386 61562786 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547425 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNQ2 HGDP00543 esv997469 20 61474017 61474201 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580475 S 3 0 1 "" HuRef esv1213722 20 61474157 61474342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185157 S 2 0 1 "" HuRef nsv913195 20 61479419 61562786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537169 S 6533 0 1 KCNQ2 MS13095 nsv180222 20 61494420 61494483 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198800 M 24 "" nsv179606 20 61494580 61494580 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198184 M 24 "" nsv179604 20 61503745 61503803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198182 M 24 "" nsv834033 20 61523233 61656784 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455333,nssv1455332,nssv1455331,nssv1455334,nssv1455336,nssv1455335,nssv1455337,nssv1455339,nssv1455338,nssv1455330,nssv1455329 M 95 11 0 C20orf195,EEF1A2,KCNQ2,PPDPF,PTK6,SRMS nsv178974 20 61533699 61533752 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197552 M 24 KCNQ2 nsv3447 20 61535478 61576411 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3069,nssv5890 M 9 2 0 KCNQ2 NA18555,NA19129 esv1486514 20 61542942 61542942 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218810 S 2 1 0 KCNQ2 HuRef esv996888 20 61547110 61552364 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564409 S 3 1 0 KCNQ2 HuRef esv1183382 20 61547431 61547431 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835563 S 2 1 0 KCNQ2 HuRef esv1065575 20 61547805 61547805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942356 S 2 1 0 KCNQ2 HuRef dgv4634n71 20 61551090 61691693 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913204,nsv913199,nsv913205,nsv913198,nsv913203,nsv913212,nsv913200 M 6533 0 8 C20orf195,EEF1A2,GMEB2,KCNQ2,PPDPF,PRIC285,PTK6,SRMS IS32322,IS32841,IS33504,IS40502,IS41634,MS10123,MS11306,MS17522 nsv513563 20 61552271 61552444 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626815 S 1 1 0 KCNQ2 1 esv1052133 20 61552355 61552355 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964263 S 2 1 0 KCNQ2 HuRef nsv913201 20 61562786 61642713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593170 S 6533 0 1 EEF1A2,KCNQ2,PPDPF,PTK6,SRMS IS39363 dgv4635n71 20 61562786 61678306 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv913202,nsv913211 M 6533 2 2 C20orf195,EEF1A2,KCNQ2,PPDPF,PRIC285,PTK6,SRMS IS32843,IS33797,IS33890,IS40297 nsv834034 20 61564622 61727698 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455344,nssv1455350,nssv1455349,nssv1455348,nssv1455352,nssv1455351,nssv1455345,nssv1455346,nssv1455343,nssv1455347,nssv1455340,nssv1455342,nssv1455341 M 95 0 13 C20orf195,EEF1A2,GMEB2,KCNQ2,PPDPF,PRIC285,PTK6,SRMS dgv4636n71 20 61569830 61603993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913206,nsv913208 M 6533 0 2 EEF1A2,KCNQ2 SP51109,SP54988 nsv913207 20 61569830 61740386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576797 S 6533 0 1 C20orf195,EEF1A2,GMEB2,KCNQ2,PPDPF,PRIC285,PTK6,SRMS IS34235 dgv1344e1 20 61572793 61846811 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14854,esv314 M 271 0 0 ARFRP1,C20orf195,EEF1A2,GMEB2,KCNQ2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT NA18522 dgv4637n71 20 61579849 61673128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913209,nsv913210 M 6533 0 4 C20orf195,EEF1A2,PPDPF,PRIC285,PTK6,SRMS IS31045,IS31656,IS33361,IS33455 nsv913213 20 61579849 61871587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575223 S 6533 0 1 ARFRP1,C20orf195,EEF1A2,GMEB2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT IS33684 dgv4638n71 20 61586087 61606863 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913214,nsv913218,nsv913217,nsv913215 M 6533 0 7 EEF1A2 SP54043,SP54684,SP54750,SP54967,SP55019,SP55318,SP80988 dgv4639n71 20 61586087 61636265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913219,nsv913216 M 6533 0 2 EEF1A2,PPDPF,PTK6 SP54725,SP55021 nsv513564 20 61588165 61588962 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626816 S 1 1 0 "" 1 nsv470563 20 61588512 61895105 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547432,nssv547436,nssv547435,nssv547428,nssv547430,nssv547426,nssv547429,nssv547431,nssv547433,nssv547427 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARFRP1,C20orf195,EEF1A2,GMEB2,LIME1,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT HGDP00302,HGDP00313,HGDP00543,HGDP00546,HGDP00556,HGDP00657,HGDP00661,HGDP00825,HGDP00978 esv1590246 20 61588691 61588691 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927203 S 2 1 0 "" HuRef esv1284018 20 61588694 61588694 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286253 S 2 1 0 "" HuRef esv1789071 20 61588732 61588732 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110440 S 2 1 0 "" HuRef nsv3448 20 61590410 61622436 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10304 S 9 1 0 EEF1A2 NA18956 esv26110 20 61606009 61607177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10887 S 451 0 1 "" NA19129 nsv913220 20 61610237 61673128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599164,nssv1592861 M 6533 0 2 C20orf195,PPDPF,PRIC285,PTK6,SRMS IS39258,IS41410 dgv4640n71 20 61610237 61695952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913224,nsv913233,nsv913232,nsv913221,nsv913228,nsv913227 M 6533 0 6 C20orf195,GMEB2,PPDPF,PRIC285,PTK6,SRMS IS33601,IS34057,IS35007,IS38176,MS10769,MS11237 dgv4641n71 20 61610237 61771468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913237,nsv913225,nsv913222 M 6533 0 3 C20orf195,GMEB2,PPDPF,PRIC285,PTK6,RTEL1,RTEL1-TNFRSF6B,SRMS,STMN3 IS30369,MS18276,SP54988 dgv4642n71 20 61618340 61678306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913226,nsv913231,nsv913223,nsv913235 M 6533 0 7 C20orf195,PPDPF,PRIC285,PTK6,SRMS IS33514,IS38293,IS40799,MS11054,MS13095,MS17825,SP50159 dgv521n27 20 61624230 61668792 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459080,nsv459079 M 1557 0 2 C20orf195,PRIC285,PTK6,SRMS HGDP00696,NINDS_49 nsv521734 20 61624230 61668792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694497 S 2026 0 1 C20orf195,PRIC285,PTK6,SRMS dgv522n27 20 61624230 61692836 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459083,nsv459081 M 1557 0 2 C20orf195,GMEB2,PRIC285,PTK6,SRMS HGDP00899,NINDS_60 dgv4643n71 20 61625038 61734769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913229,nsv913234 M 6533 0 3 C20orf195,GMEB2,PRIC285,PTK6,SRMS IS33178,IS33248,IS41243 nsv913230 20 61629948 61673128 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531297,nssv1570114,nssv1584891,nssv1590819,nssv1564437,nssv1586838,nssv1554983,nssv1576568,nssv1578835,nssv1573155,nssv1566593,nssv1582863,nssv1575493,nssv1552426 M 6533 9 5 C20orf195,PRIC285,PTK6,SRMS IS30210,IS30814,IS31800,IS33243,IS33759,IS34124,IS34912,IS36183,IS37172,IS37985,IS38591,MS10386,MS19414,MS21124 dgv35n64 20 61642713 61683372 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817910,nsv817909 M 112 0 3 C20orf195,PRIC285,SRMS NA12750,NA18608,NA19003 nsv517702 20 61642713 61683372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690997,nssv662149,nssv674935,nssv683287,nssv677152,nssv689511,nssv661470,nssv679024,nssv684028,nssv671230,nssv667468,nssv674687,nssv668209,nssv669156,nssv673999,nssv656461,nssv652901,nssv659166,nssv655307,nssv671375,nssv683345,nssv680089,nssv692973,nssv681599,nssv674168,nssv689400,nssv670009,nssv657050,nssv659432,nssv679472,nssv690914,nssv673310,nssv658211,nssv669602,nssv693500,nssv661844,nssv656214,nssv660130,nssv670615,nssv676895 M 2026 0 40 C20orf195,PRIC285,SRMS dgv4644n71 20 61642725 61965906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913236,nsv913242 M 6533 0 2 ABHD16B,ARFRP1,C20orf195,GMEB2,LIME1,PRIC285,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,SRMS,STMN3,TNFRSF6B,ZBTB46,ZGPAT MS10311,MS16153 nsv180256 20 61648495 61648495 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198834 M 24 SRMS nsv913238 20 61659537 61673128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506130 S 6533 0 1 PRIC285 SP54043 nsv913239 20 61663889 61678306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509390,nssv1514319 M 6533 0 2 PRIC285 SP54782,SP55992 esv1000908 20 61668298 61668298 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574674 S 3 1 0 PRIC285 HuRef nsv179406 20 61668477 61668477 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197984 M 24 PRIC285 esv24758 20 61672854 61673884 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20679 S 451 30 0 PRIC285 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18511,NA18517,NA18523,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv1272786 20 61672989 61672989 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217792 S 2 1 0 PRIC285 HuRef esv1344882 20 61673075 61673075 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810629 S 2 1 0 PRIC285 HuRef nsv179511 20 61681782 61682120 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198089 M 24 "" dgv1345e1 20 61685172 61846811 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17592,essv21146,essv21837,essv22629,essv1888,essv16983,essv12534,essv1533,essv19624,essv3029,essv24290,essv1794,essv10775,essv24679,essv22079,essv22569,essv10908,essv20389,essv5536,essv22111,essv14607,essv23673,essv4768,essv6042,essv5792,essv14561,essv7076,essv21246,essv23215,essv13162,essv22944,essv8321,essv17880,essv20286,essv10362,essv17822,essv9194,essv4364,essv7825,essv22923,essv18399,essv11212,essv12688,essv18612,essv8913,essv18227,essv11676,essv19684,essv16107,essv4300,essv16692,essv15209,essv14315,essv9876,essv19401,essv13483,essv23348,essv13068,essv9325,essv13884,essv15486,essv23969,essv10658,essv17336,essv24572,essv6356,essv12967,essv21681,essv23941,essv19793,essv14069,essv24966,essv21405,essv9804,essv24841,essv20339,essv24431,essv17710,essv15695,essv9709,essv21511,essv17113,essv12739,essv21222,essv18252,essv22392,essv1438,essv3394,essv14764,essv19190,essv24156,essv20613,essv16003,essv16267,essv12228,essv14460,essv17631,essv22768,essv23583,essv10080,essv23419,essv1105,essv17260,essv16905,essv20179,essv15109,essv2238,essv13624,essv11763,essv20121,essv22214,essv13781,essv18082,essv4017,essv9633 M 271 0 0 ARFRP1,GMEB2,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,STMN3,TNFRSF6B,ZBTB46,ZGPAT NA07000,NA07019,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10835,NA10839,NA10846,NA10847,NA10854,NA10855,NA10856,NA10857,NA10863,NA11829,NA11830,NA11832,NA11839,NA11840,NA11992,NA12003,NA12006,NA12044,NA12057,NA12144,NA12145,NA12154,NA12155,NA12156,NA12234,NA12236,NA12248,NA12249,NA12264,NA12707,NA12716,NA12740,NA12750,NA12752,NA12753,NA12760,NA12762,NA12814,NA12815,NA12865,NA12872,NA12873,NA12875,NA18500,NA18501,NA18503,NA18504,NA18505,NA18523,NA18529,NA18537,NA18558,NA18566,NA18571,NA18573,NA18603,NA18609,NA18620,NA18852,NA18853,NA18854,NA18855,NA18856,NA18859,NA18861,NA18863,NA18912,NA18913,NA18914,NA18944,NA18945,NA18964,NA18966,NA18970,NA18976,NA18980,NA18981,NA18997,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19127,NA19128,NA19129,NA19141,NA19142,NA19144,NA19145,NA19153,NA19154,NA19159,NA19161,NA19171,NA19192,NA19194,NA19200,NA19201,NA19202,NA19204,NA19205,NA19209,NA19222 nsv428381 20 61685172 62435964 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453861,nssv453858,nssv453869,nssv453867,nssv453868,nssv453859,nssv453865,nssv453863,nssv453862,nssv453860 M 62 5 5 ABHD16B,ARFRP1,C20orf201,DNAJC5,GMEB2,LIME1,LINC00176,LINC00266-1,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NPBWR2,OPRL1,PCMTD2,PRPF6,RGS19,RTEL1,RTEL1-TNFRSF6B,SAMD10,SLC2A4RG,SOX18,STMN3,TCEA2,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,ZBTB46,ZGPAT,ZNF512B HGDP00462,HGDP00467,HGDP00472,HGDP01089,HGDP01093,NA19096,NA19113,NA19147,NA19181,NA19257 nsv828800 20 61688827 61689358 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431760 S 31 1 0 "" AK18 nsv9826 20 61707836 61713099 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25199,nssv25202,nssv26542,nssv26164,nssv22025,nssv26016,nssv25656,nssv24678,nssv27201,nssv25517,nssv26949,nssv27585,nssv27707 M 31 1 12 Samples from several populations that are part of the HapMap project. GMEB2 NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA18504,NA18517,NA18552,NA18853,NA19132,NA19144,NA19173 esv23497 20 61708458 61711981 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10369 S 451 0 29 GMEB2 NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA18502,NA18505,NA18511,NA18517,NA18858,NA18861,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821165 20 61708458 61712010 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420110 S 1 0 1 GMEB2 NA10851 esv1026516 20 61709407 61710293 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813839 S 2 0 1 GMEB2 HuRef esv1380934 20 61710355 61711381 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842229 S 2 0 1 GMEB2 HuRef nsv179147 20 61710693 61710932 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197725 M 24 GMEB2 nsv913240 20 61719719 61759196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510411 S 6533 0 1 GMEB2,STMN3 SP54956 nsv913241 20 61734769 61855923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532542 S 6533 0 1 ARFRP1,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,STMN3,TNFRSF6B,ZBTB46,ZGPAT MS10769 nsv9827 20 61750638 61755589 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25227,nssv27211,nssv26586,nssv22391 M 31 0 4 Samples from several populations that are part of the HapMap project. STMN3 NA12872,NA18504,NA18853,NA19144 nsv9828 20 61770072 61775563 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26600,nssv25550,nssv24407,nssv22698 M 31 3 1 Samples from several populations that are part of the HapMap project. RTEL1,RTEL1-TNFRSF6B NA07029,NA18564,NA18572,NA19144 esv29168 20 61771272 61772218 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20915 S 451 0 10 RTEL1,RTEL1-TNFRSF6B NA18502,NA18505,NA18508,NA18511,NA18916,NA19099,NA19147,NA19190,NA19240,NA19257 nsv820558 20 61771272 61772218 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420111 S 1 0 1 RTEL1,RTEL1-TNFRSF6B NA10851 esv988534 20 61771488 61772218 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586683 S 3 1 0 RTEL1,RTEL1-TNFRSF6B HuRef nsv189 20 61777021 61798147 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv189 S 1 1 0 RTEL1,RTEL1-TNFRSF6B NA15510 nsv3449 20 61777021 61798419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10305,nssv6949,nssv4549,nssv2343,nssv5891,nssv11041 M 9 6 0 RTEL1,RTEL1-TNFRSF6B NA12156,NA12878,NA15510,NA18555,NA18956,NA19129 nsv179257 20 61778405 61786774 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197835 M 24 RTEL1,RTEL1-TNFRSF6B esv2006909 20 61779436 61779857 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787401 S 1 0 1 RTEL1,RTEL1-TNFRSF6B NA18507 esv5108 20 61779448 61779950 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27549 S 1 0 1 Single Asian sample YH RTEL1,RTEL1-TNFRSF6B YH dgv4645n71 20 61780283 61880157 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913252,nsv913245,nsv913243,nsv913244,nsv913251 M 6533 0 6 ARFRP1,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,TNFRSF6B,ZBTB46,ZGPAT IS34235,IS38176,IS40502,MS11237,MS13727,MS18276 dgv4646n71 20 61782743 61819351 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913247,nsv913246 M 6533 0 3 ARFRP1,RTEL1,RTEL1-TNFRSF6B,TNFRSF6B,ZGPAT SP54043,SP54725,SP54988 dgv4647n71 20 61782743 61855923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913254,nsv913248 M 6533 0 2 ARFRP1,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,TNFRSF6B,ZBTB46,ZGPAT SP54956,SP55021 nsv913249 20 61782743 61926644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580969 S 6533 0 1 ARFRP1,LIME1,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,TNFRSF6B,ZBTB46,ZGPAT IS35484 nsv913250 20 61782743 62070056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586105 S 6533 0 1 ABHD16B,ARFRP1,DNAJC5,LIME1,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,RTEL1,RTEL1-TNFRSF6B,SLC2A4RG,TNFRSF6B,TPD52L2,UCKL1,UCKL1-AS1,ZBTB46,ZGPAT,ZNF512B IS37646 esv992110 20 61795564 61796016 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565508 S 3 1 0 RTEL1,RTEL1-TNFRSF6B HuRef nsv913253 20 61795777 61812375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519370 S 6533 0 1 ARFRP1,RTEL1,RTEL1-TNFRSF6B,TNFRSF6B,ZGPAT SP81010 nsv913255 20 61808066 61871587 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572056 S 6533 1 0 ARFRP1,LIME1,SLC2A4RG,ZBTB46,ZGPAT IS32843 nsv828801 20 61808420 61832851 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435590 S 31 0 1 ARFRP1,ZGPAT NA18942 esv7227 20 61817395 61908918 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29668 S 1 0 1 LIME1,SLC2A4RG,ZBTB46,ZGPAT SJK nsv913256 20 61829789 61926644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593637,nssv1574149,nssv1574000 M 6533 0 3 LIME1,SLC2A4RG,ZBTB46,ZGPAT IS33504,IS33514,IS39464 dgv4648n71 20 61829789 62034471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913260,nsv913257 M 6533 0 2 ABHD16B,DNAJC5,LIME1,MIR941-1,MIR941-2,MIR941-3,MIR941-4,SLC2A4RG,TPD52L2,ZBTB46,ZGPAT IS34304,SP54988 nsv913258 20 61833007 61848793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506132 S 6533 0 1 LIME1,SLC2A4RG,ZBTB46,ZGPAT SP54043 dgv4649n71 20 61833007 61857331 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913259,nsv913265 M 6533 0 3 LIME1,SLC2A4RG,ZBTB46,ZGPAT SP54593,SP54725,SP54967 esv5348 20 61833075 61833519 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27789 S 1 0 1 Single Asian sample YH ZGPAT YH dgv4650n71 20 61837821 61846671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913261,nsv913262 M 6533 0 3 LIME1,SLC2A4RG,ZBTB46,ZGPAT SP54782,SP56084,SP56223 dgv4651n71 20 61837821 61852423 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913264,nsv913263 M 6533 0 3 LIME1,SLC2A4RG,ZBTB46,ZGPAT SP54657,SP55019,SP55264 esv29394 20 61839082 61842287 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12483,esv18165 M 451 0 2 LIME1,SLC2A4RG NA12004,NA12489 dgv523n27 20 61840441 61891456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459086,nsv459084 M 1557 0 2 LIME1,SLC2A4RG,ZBTB46 HGDP00655,NINDS_119 nsv913266 20 61844151 61941677 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590495 S 6533 1 0 SLC2A4RG,ZBTB46 IS38515 nsv828802 20 61845617 61846386 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435591 S 31 0 1 SLC2A4RG,ZBTB46 NA18942 nsv828803 20 61845650 61846235 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437161 S 31 1 0 SLC2A4RG,ZBTB46 NA18542 nsv459087 20 61861458 61891456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535921 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZBTB46 HGDP01338 esv4299 20 61872671 61872892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26740 S 1 0 1 Single Asian sample YH ZBTB46 YH esv1000629 20 61872735 61872811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580307 S 3 0 1 ZBTB46 HuRef nsv179829 20 61872799 61872875 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198407 M 24 ZBTB46 nsv180391 20 61872876 61872876 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198969 M 24 ZBTB46 esv1348867 20 61878867 61878957 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956247 S 2 0 1 ZBTB46 HuRef esv1008032 20 61894624 61904168 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565729 S 3 0 1 ZBTB46 HuRef nsv179256 20 61895462 61895462 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197834 M 24 ZBTB46 nsv913267 20 61896980 61967466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511624 S 6533 0 1 ABHD16B,TPD52L2,ZBTB46 SP55021 nsv180339 20 61909890 61909890 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198917 M 24 "" nsv828804 20 61911371 61980321 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435592 S 31 0 1 ABHD16B,TPD52L2 NA18942 nsv509784 20 61926179 62085122 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619851 S 4 1 0 ABHD16B,DNAJC5,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,PRPF6,SAMD10,TPD52L2,UCKL1,UCKL1-AS1,ZNF512B NA10860 nsv913268 20 61926882 61979969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510413 S 6533 0 1 ABHD16B,TPD52L2 SP54956 esv26615 20 61932170 61934364 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13088 S 451 0 3 "" NA07045,NA12004,NA12489 esv22094 20 61937679 61938314 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11194 S 451 2 0 "" NA07037,NA15510 nsv913269 20 61944148 62084782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550015 S 6533 0 1 ABHD16B,DNAJC5,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,PRPF6,SAMD10,TPD52L2,UCKL1,UCKL1-AS1,ZNF512B MS18276 nsv469773 20 61947225 62141109 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649794 M 265 3 0 Samples from several populations that are part of the HapMap project. ABHD16B,DNAJC5,LINC00176,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,PRPF6,SAMD10,TPD52L2,UCKL1,UCKL1-AS1,ZNF512B nsv180638 20 61949099 61949099 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv199216 M 24 "" esv2837 20 61951584 61951825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25278 S 1 0 1 Single Asian sample YH "" YH esv1758331 20 61951622 61951673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227953 S 2 0 1 "" HuRef nsv179985 20 61951726 61951776 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198563 M 24 "" nsv828805 20 62004830 62012606 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425444 S 31 0 1 DNAJC5 AK2 nsv913270 20 62006038 62355057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531019 S 6533 0 1 C20orf201,DNAJC5,LINC00176,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,MYT1,NPBWR2,OPRL1,PRPF6,RGS19,SAMD10,SOX18,TCEA2,UCKL1,UCKL1-AS1,ZNF512B MS10311 dgv4652n71 20 62011862 62068138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913271,nsv913272 M 6533 0 4 DNAJC5,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,UCKL1,UCKL1-AS1,ZNF512B IS32737,IS33684,IS35484,MS10698 dgv4653n71 20 62011862 62095202 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913276,nsv913273,nsv913280,nsv913281,nsv913282 M 6533 0 12 DNAJC5,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,PRPF6,SAMD10,UCKL1,UCKL1-AS1,ZNF512B IS30369,IS32841,IS33178,IS33455,IS33504,IS34057,IS34235,IS40230,IS41634,MS16315,SP54956,SP54988 dgv4654n71 20 62011862 62220204 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913277,nsv913274,nsv913278,nsv913284 M 6533 0 4 C20orf201,DNAJC5,LINC00176,MIR1914,MIR647,MIR941-1,MIR941-2,MIR941-3,MIR941-4,NPBWR2,OPRL1,PRPF6,RGS19,SAMD10,SOX18,TCEA2,UCKL1,UCKL1-AS1,ZNF512B IS32322,IS39233,IS39417,MS16153 nsv9829 20 62020358 62022263 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25573 S 31 1 0 Samples from several populations that are part of the HapMap project. DNAJC5,MIR941-1,MIR941-2,MIR941-3,MIR941-4 NA18564 dgv4655n71 20 62023942 62066740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913275,nsv913279 M 6533 0 2 DNAJC5,MIR1914,MIR647,UCKL1,UCKL1-AS1,ZNF512B IS33239,IS37172 dgv4656n71 20 62028703 62158803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913283,nsv913286 M 6533 0 2 DNAJC5,LINC00176,MIR1914,MIR647,PRPF6,SAMD10,SOX18,UCKL1,UCKL1-AS1,ZNF512B MS10769,MS13770 esv29498 20 62043631 62044126 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16129 S 451 1 0 UCKL1 NA18861 nsv913285 20 62044026 62158803 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589933 S 6533 1 0 LINC00176,MIR647,PRPF6,SAMD10,SOX18,UCKL1,UCKL1-AS1,ZNF512B IS38430 esv996794 20 62049193 62051206 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564230 S 3 1 0 UCKL1 HuRef nsv913287 20 62056706 62084782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511625,nssv1506133,nssv1508326 M 6533 0 3 PRPF6,SAMD10,UCKL1,UCKL1-AS1,ZNF512B SP54043,SP54725,SP55021 nsv913288 20 62062375 62121406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590496 S 6533 1 0 PRPF6,SAMD10,ZNF512B IS38515 nsv9830 20 62063139 62083713 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22451,nssv22727,nssv27953,nssv25668,nssv27753,nssv24211,nssv26213,nssv25540,nssv24909,nssv25224,nssv28650,nssv24433,nssv25691,nssv26155,nssv25596,nssv27798,nssv25252,nssv27138,nssv26959,nssv25480,nssv24704,nssv24975,nssv27593,nssv25678,nssv27221,nssv22570 M 31 26 0 Samples from several populations that are part of the HapMap project. PRPF6,SAMD10,ZNF512B NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19221,NA19240 esv2639361 20 62065840 62068145 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223002 S 1 0 1 ZNF512B NA18507 dgv4657n71 20 62065991 62084782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913292,nsv913289,nsv913290,nsv913294,nsv913296,nsv913297,nsv913291,nsv913295,nsv913293 M 6533 0 21 PRPF6,SAMD10,ZNF512B SP51109,SP54002,SP54042,SP54225,SP54591,SP54593,SP54657,SP54672,SP54684,SP54750,SP54935,SP54967,SP54979,SP55019,SP55056,SP55318,SP56223,SP57469,SP80982,SP80988,SP80992 nsv512626 20 62066369 62067949 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625240 S 1 0 1 ZNF512B 1 esv2122070 20 62066550 62067978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498457 S 1 0 1 ZNF512B NA18507 esv987667 20 62066599 62067884 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586228 S 3 1 0 ZNF512B HuRef esv26243 20 62066654 62067959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11572 S 451 35 0 ZNF512B NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821524 20 62066654 62067959 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420112 S 1 0 1 ZNF512B NA10851 nsv509785 20 62100900 62239173 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619852 S 4 1 0 C20orf201,LINC00176,NPBWR2,OPRL1,PRPF6,RGS19,SOX18,TCEA2 NA10860 dgv1346e1 20 62108666 62284575 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8191,essv15034,essv1785,essv17506,essv19242,essv10840,essv16084 M 271 0 0 C20orf201,LINC00176,MYT1,NPBWR2,OPRL1,PRPF6,RGS19,SOX18,TCEA2 NA10838,NA12762,NA18501,NA18871,NA18997,NA19116,NA19129 dgv1347e1 20 62108666 62435964 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3166,essv20032,esv14,essv10540,essv17907,essv16303 M 271 0 0 C20orf201,LINC00176,LINC00266-1,MYT1,NPBWR2,OPRL1,PCMTD2,PRPF6,RGS19,SOX18,TCEA2 NA07048,NA12003,NA19012,NA19161,NA19240 nsv9831 20 62113491 62121840 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27714,nssv25730,nssv27959,nssv26232,nssv26613,nssv28681,nssv27178,nssv25690,nssv22786,nssv24459 M 31 2 8 Samples from several populations that are part of the HapMap project. PRPF6 NA07029,NA11830,NA18517,NA18572,NA18860,NA18980,NA19144,NA19173,NA19221,NA19240 esv24865 20 62113608 62115036 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15117 S 451 0 3 PRPF6 NA18508,NA18517,NA19114 nsv820696 20 62113608 62115036 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420113 S 1 0 1 PRPF6 NA10851 esv1033490 20 62114368 62114660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031017 S 2 0 1 PRPF6 HuRef esv989902 20 62114398 62114456 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567264 S 3 0 1 PRPF6 HuRef dgv4658n71 20 62114669 62207762 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913306,nsv913298,nsv913303,nsv913302 M 6533 0 5 C20orf201,LINC00176,NPBWR2,OPRL1,PRPF6,RGS19,SOX18,TCEA2 IS32737,IS33504,IS33684,IS34057,IS37646 dgv4659n71 20 62115560 62188954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913301,nsv913300,nsv913299 M 6533 0 3 C20orf201,LINC00176,OPRL1,PRPF6,RGS19,SOX18,TCEA2 IS38538,IS40297,SP54956 nsv913304 20 62121406 62221898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550016 S 6533 0 1 C20orf201,LINC00176,NPBWR2,OPRL1,PRPF6,RGS19,SOX18,TCEA2 MS18276 esv2378872 20 62123398 62123766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717664 S 1 0 1 PRPF6 NA18507 nsv913305 20 62125436 62158803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511117 S 6533 0 1 LINC00176,PRPF6,SOX18 SP54988 nsv470564 20 62129289 62271625 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547437 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C20orf201,LINC00176,MYT1,NPBWR2,OPRL1,PRPF6,RGS19,SOX18,TCEA2 HGDP00599 dgv4660n71 20 62135993 62155324 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913309,nsv913307 M 6533 0 3 LINC00176,SOX18 SP54042,SP54043,SP55019 dgv4661n71 20 62135993 62188374 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913310,nsv913308 M 6533 0 2 C20orf201,LINC00176,OPRL1,RGS19,SOX18,TCEA2 SP54725,SP55021 esv22562 20 62149884 62151765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20098 S 451 0 2 SOX18 NA07045,NA12489 dgv4662n71 20 62161757 62208755 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913312,nsv913311 M 6533 0 2 C20orf201,NPBWR2,OPRL1,RGS19,TCEA2 IS37172,SP54988 nsv913313 20 62167444 62188374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499138 S 6533 0 1 C20orf201,OPRL1,RGS19,TCEA2 SP50159 esv1663265 20 62167680 62167680 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174856 S 2 1 0 TCEA2 HuRef nsv913314 20 62168317 62182497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514320 S 6533 0 1 OPRL1,RGS19,TCEA2 SP55992 esv1008416 20 62179973 62179973 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568806 S 3 1 0 RGS19 HuRef nsv179409 20 62180079 62180079 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197987 M 24 RGS19 dgv4663n71 20 62189199 62260916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913315,nsv913316 M 6533 0 2 NPBWR2,OPRL1 MS13095,MS13770 dgv710n67 20 62189731 62190546 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828806,nsv828807 M 31 2 0 OPRL1 AK6,NA18997 esv1344965 20 62190490 62190490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696443 S 2 1 0 OPRL1 HuRef esv1182210 20 62190678 62190678 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799341 S 2 1 0 OPRL1 HuRef esv26753 20 62194828 62199440 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15435,esv13528 M 451 3 0 OPRL1 NA06985,NA12044,NA15510 esv2580034 20 62198820 62199086 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343091 S 1 1 0 OPRL1 NA18507 nsv180275 20 62206455 62206552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198853 M 24 "" nsv512627 20 62217983 62221272 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625241 S 1 0 1 "" 1 esv26864 20 62219069 62221199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11821 S 451 0 3 "" NA11993,NA12878,NA18858 nsv179347 20 62224977 62225253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197925 M 24 "" nsv3450 20 62226203 62260177 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7703 S 9 1 0 "" NA12156 esv1921459 20 62226995 62227601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4600243 S 1 0 1 "" NA18507 esv2094617 20 62226999 62228072 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860168 S 1 0 1 "" NA18507 esv25057 20 62227112 62229633 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18706 S 451 0 2 "" NA11993,NA12828 esv1344762 20 62227323 62227738 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191812 S 2 0 1 "" HuRef esv1581658 20 62228306 62228306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329441 S 2 1 0 "" HuRef esv1298781 20 62228905 62229741 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242859 S 2 0 1 "" HuRef esv1006987 20 62228905 62240485 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565235 S 3 0 1 "" HuRef nsv9832 20 62232847 62236693 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27751,nssv27231,nssv26969,nssv25277,nssv22600,nssv27188,nssv25742,nssv26036,nssv25503,nssv27965,nssv22055,nssv25752,nssv24485 M 31 11 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA11830,NA12155,NA12740,NA12802,NA18504,NA18517,NA18563,NA18853,NA18860,NA18980,NA19240 esv2184182 20 62232962 62233413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637286 S 1 0 1 "" NA18507 nsv820524 20 62233470 62236283 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420114 S 1 0 1 "" NA10851 esv27814 20 62233575 62236233 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10914 S 451 19 3 "" NA06985,NA07037,NA07045,NA11931,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18505,NA18517,NA18523,NA18858,NA18916,NA19099,NA19108,NA19190,NA19240 nsv514946 20 62233632 62235528 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627202 S 1414 0 0 "" esv1040519 20 62233871 62234073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839955 S 2 0 1 "" HuRef esv1615238 20 62234110 62234414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151357 S 2 0 1 "" HuRef nsv179970 20 62234272 62235717 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198548 M 24 "" esv1744236 20 62234683 62235149 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331289 S 2 0 1 "" HuRef dgv105n6 20 62236815 62237078 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv178701,nsv180699 M 24 "" esv991022 20 62236844 62237012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568971 S 3 0 1 "" HuRef nsv524962 20 62243081 62349775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700983 S 2026 0 1 MYT1 nsv9833 20 62274903 62278821 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24934,nssv27971,nssv25563 M 31 3 0 Samples from several populations that are part of the HapMap project. MYT1 NA07048,NA10839,NA18860 esv23921 20 62275130 62278595 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20495 S 451 1 9 MYT1 NA11993,NA12828,NA18511,NA18916,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv821475 20 62275130 62278595 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420116 S 1 0 1 MYT1 NA10851 esv1483804 20 62275334 62275387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615235 S 2 0 1 MYT1 HuRef nsv179382 20 62275475 62275530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197960 M 24 MYT1 esv1114131 20 62275735 62275929 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003331 S 2 0 1 MYT1 HuRef esv1143799 20 62276227 62276333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740250 S 2 0 1 MYT1 HuRef esv1552174 20 62276443 62276540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283469 S 2 0 1 MYT1 HuRef nsv913317 20 62277294 62355057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547068 S 6533 0 1 MYT1 MS17208 esv2097509 20 62280158 62280961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934836 S 1 0 1 MYT1 NA18507 esv1049699 20 62280355 62280355 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973010 S 2 1 0 MYT1 HuRef esv1433479 20 62303743 62303743 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846159 S 2 1 0 MYT1 HuRef nsv527137 20 62306964 62316975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703524 S 2026 0 1 MYT1 nsv913318 20 62306964 62347448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550017 S 6533 0 1 MYT1 MS18276 esv2317556 20 62313835 62314214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578647 S 1 0 1 MYT1 NA18507 esv1005570 20 62322579 62322659 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582543 S 3 0 1 MYT1 HuRef esv1395726 20 62322586 62322667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050193 S 2 0 1 MYT1 HuRef esv2559642 20 62334527 62335392 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222687 S 1 1 0 MYT1 NA18507 esv24888 20 62336458 62338503 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14120 S 451 0 1 MYT1 NA19240 nsv179519 20 62337583 62337966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv198097 M 24 MYT1 nsv9834 20 62370954 62374135 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27805,nssv28682,nssv26979 M 31 3 0 Samples from several populations that are part of the HapMap project. PCMTD2 NA12155,NA18502,NA19221 esv2447590 20 62372138 62373715 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332874 S 1 0 1 PCMTD2 NA18507 esv1549221 20 62372760 62372814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969012 S 2 0 1 PCMTD2 HuRef esv1694737 20 62372854 62373178 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594895 S 2 0 1 PCMTD2 HuRef esv1003219 20 62379508 62379572 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583747 S 3 0 1 "" HuRef esv1578089 20 62379535 62379600 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272346 S 2 0 1 "" HuRef nsv178855 20 62379536 62379600 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv197433 M 24 "" esv2148919 20 62379774 62380172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615134 S 1 0 1 "" NA18507 esv24036 20 62388801 62435732 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14681,esv11064,esv9869,esv17356 M 451 11 1 LINC00266-1 NA11894,NA11993,NA11995,NA12004,NA12239,NA12287,NA12414,NA12749,NA12776,NA18916,NA19129,NA19147 nsv9836 20 62406526 62435964 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24511,nssv27758,nssv24730,nssv25774 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA11830,NA18517 esv2422054 20 62419232 62426597 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005229,essv5017116,essv5046746,essv5083721,essv5098714,essv5077552,essv5130431,essv5010836,essv5112845,essv5033010,essv5122271,essv5121764,essv5091587,essv5053408,essv5062723,essv5133135,essv5110233,essv5117812,essv5100066,essv5116310,essv5140579,essv5102891,essv5011570,essv5121163,essv5041740,essv5135994,essv5007897,essv5061621,essv5049188,essv5041676,essv5109202,essv5027084,essv5085528,essv5036632,essv5016228,essv5157863,essv5012079,essv5014114,essv5040354,essv5012565,essv5135743,essv5045885,essv5073424,essv5017841,essv5148553,essv5084230,essv5104243,essv5126323,essv5112859,essv5053752,essv5122944,essv5107887,essv5116567,essv5093986,essv5047561,essv5143990,essv5046558,essv5033702,essv5149357,essv5061323,essv5122742,essv5007712,essv5023876,essv5063143,essv5067593,essv5022028,essv5052406,essv5041248,essv5089464,essv5121270,essv5106951,essv5083878,essv5154726,essv5014410,essv5056319,essv5078171,essv5143953,essv5076104,essv5083008,essv5124930,essv5009099,essv5107216,essv5120122,essv5156162,essv5111279,essv5123963,essv5020039,essv5107322,essv5047888,essv5026648,essv5100704,essv5072158,essv5049928,essv5128470,essv5158105,essv5108541,essv5134989,essv5058577,essv5028463,essv5018467,essv5109213,essv5155187,essv5041694,essv5008129,essv5081214,essv5039746,essv5037067,essv5111652,essv5054899,essv5094248,essv5154520,essv5116806,essv5151603,essv5006187,essv5121965,essv5059273,essv5099538,essv5007283,essv5061736,essv5141337,essv5061235,essv5012236,essv5113188,essv5032344,essv5110302,essv5156382,essv5083864,essv5067328,essv5113862,essv5072370,essv5098538,essv5125244,essv5106900,essv5147659,essv5008341,essv5004482,essv5067775,essv5138047,essv5027325,essv5073470,essv5080456,essv5106433,essv5005303,essv5039017,essv5063955,essv5057419,essv5081000,essv5137691,essv5039157,essv5119309,essv5045984,essv5065975,essv5119771,essv5014088,essv5139348,essv5072502,essv5038277,essv5147643,essv5150270,essv5036869,essv5028337,essv5128833,essv5075421,essv5118710,essv5145882,essv5140693,essv5134883,essv5110134,essv5115098,essv5021561,essv5115404,essv5116009,essv5008365,essv5078746,essv5119181,essv5126798,essv5034828,essv5088594,essv5065662,essv5027664,essv5140174,essv5047576,essv5010816,essv5010904,essv5015396,essv5127883,essv5020776,essv5151017,essv5008598,essv5041775,essv5087192,essv5068762,essv5086270,essv5058539,essv5078675,essv5038085,essv5052105,essv5135428,essv5127339,essv5070898,essv5077237,essv5057507,essv5013653,essv5149546,essv5134682,essv5070086,essv5095705,essv5103604,essv5025685,essv5079035,essv5022644,essv5160695,essv5099135,essv5077645,essv5093751,essv5040069,essv5155987,essv5037984,essv5108244,essv5017459,essv5011318,essv5012110,essv5048870,essv5127492,essv5161063,essv5038109,essv5040743,essv5054535,essv5129950,essv5067381,essv5092751,essv5005273,essv5060581,essv5133494,essv5059911,essv5046704,essv5057589,essv5005211,essv5088860,essv5087240,essv5157482,essv5066626,essv5088113,essv5004055,essv5014172,essv5133526,essv5126889,essv5099166,essv5159092,essv5135464,essv5031059,essv5020255,essv5151581,essv5036735,essv5092756,essv5106066,essv5161073,essv5157766,essv5066251,essv5121465,essv5026435,essv5037424,essv5139438,essv5034239,essv5052375,essv5144113,essv5153180,essv5150268,essv5004101,essv5036559,essv5150804,essv5141936,essv5106744,essv5084717,essv5117120,essv5092237,essv5078269,essv5045796,essv5034129,essv5113958,essv5004242,essv5092396,essv5111487,essv5044552,essv5151528,essv5080843,essv5011898,essv5044868,essv5149356,essv5145323,essv5125793,essv5032675,essv5087439,essv5099139,essv5068178 M 1184 56 239 "" NA06989,NA06994,NA06995,NA07029,NA07055,NA07345,NA07348,NA07435,NA10830,NA10831,NA10843,NA10846,NA10847,NA10856,NA10859,NA10863,NA11830,NA11839,NA11881,NA11882,NA11893,NA11917,NA11918,NA11919,NA12006,NA12044,NA12056,NA12146,NA12154,NA12264,NA12273,NA12282,NA12335,NA12340,NA12375,NA12383,NA12708,NA12716,NA12718,NA12814,NA12817,NA12828,NA12829,NA12842,NA12872,NA12873,NA12877,NA12889,NA12890,NA17975,NA17979,NA17980,NA17983,NA17987,NA17990,NA17997,NA17999,NA18105,NA18106,NA18107,NA18108,NA18112,NA18117,NA18118,NA18124,NA18128,NA18139,NA18141,NA18143,NA18151,NA18152,NA18156,NA18159,NA18510,NA18517,NA18518,NA18520,NA18524,NA18532,NA18552,NA18555,NA18557,NA18561,NA18570,NA18594,NA18603,NA18608,NA18615,NA18617,NA18622,NA18623,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18637,NA18638,NA18694,NA18749,NA18852,NA18854,NA18859,NA18862,NA18871,NA18916,NA18951,NA18954,NA18955,NA18956,NA18957,NA18959,NA18964,NA18965,NA18966,NA18970,NA18974,NA18979,NA18993,NA19005,NA19041,NA19059,NA19062,NA19063,NA19064,NA19067,NA19077,NA19078,NA19081,NA19085,NA19087,NA19088,NA19093,NA19101,NA19102,NA19122,NA19128,NA19129,NA19130,NA19137,NA19139,NA19140,NA19142,NA19147,NA19148,NA19159,NA19176,NA19181,NA19182,NA19194,NA19201,NA19203,NA19206,NA19223,NA19360,NA19379,NA19383,NA19403,NA19404,NA19430,NA19431,NA19436,NA19470,NA19474,NA19625,NA19649,NA19651,NA19657,NA19663,NA19676,NA19677,NA19679,NA19703,NA19705,NA19723,NA19750,NA19751,NA19776,NA19902,NA19904,NA19908,NA19916,NA19918,NA20127,NA20128,NA20277,NA20289,NA20290,NA20322,NA20340,NA20341,NA20347,NA20356,NA20357,NA20502,NA20508,NA20509,NA20515,NA20516,NA20517,NA20518,NA20521,NA20524,NA20527,NA20540,NA20542,NA20543,NA20581,NA20582,NA20752,NA20753,NA20757,NA20758,NA20770,NA20787,NA20796,NA20802,NA20803,NA20807,NA20808,NA20810,NA20811,NA20815,NA20816,NA20826,NA20828,NA20846,NA20849,NA20851,NA20854,NA20856,NA20858,NA20859,NA20861,NA20866,NA20869,NA20870,NA20871,NA20872,NA20875,NA20877,NA20879,NA20881,NA20883,NA20887,NA20889,NA20892,NA20894,NA20896,NA20898,NA20901,NA20904,NA20907,NA20911,NA21086,NA21088,NA21089,NA21091,NA21092,NA21094,NA21099,NA21100,NA21102,NA21103,NA21107,NA21109,NA21112,NA21115,NA21137,NA21141,NA21144,NA21295,NA21300,NA21313,NA21320,NA21371,NA21457,NA21526,NA21529,NA21580,NA21617,NA21631,NA21647,NA21648,NA21650,NA21682,NA21683,NA21686,NA21716,NA21717,NA21718,NA21738,NA21825 esv2421803 20 62425139 62426597 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085250,essv5062907,essv5147569,essv5055767,essv5029456,essv5041095,essv5022305,essv5051203,essv5007966,essv5055830,essv5085152,essv5033618,essv5062999,essv5048112,essv5122970,essv5015005,essv5105017,essv5035583,essv5042781,essv5076003,essv5040570,essv5131836,essv5103648,essv5035957,essv5093166,essv5022729,essv5100365,essv5103270,essv5073792,essv5109637,essv5155034,essv5040911,essv5060191,essv5031314,essv5034247,essv5096559,essv5005100,essv5046553,essv5053840,essv5094202,essv5071936,essv5076397,essv5079109,essv5005252,essv5119003,essv5127825,essv5129335,essv5137921,essv5160923,essv5148898,essv5132159,essv5045501,essv5028398,essv5026364,essv5118027,essv5155240,essv5068443,essv5022913,essv5160573,essv5034268,essv5097027,essv5055346,essv5059133,essv5002979,essv5073726,essv5002951,essv5114304,essv5099134,essv5132913,essv5062882,essv5086819,essv5058366,essv5109018,essv5152403,essv5012221,essv5113344,essv5076950,essv5104114,essv5079989,essv5066681,essv5141196,essv5146742,essv5060923,essv5039769,essv5097574,essv5122999,essv5002630,essv5146551,essv5021972,essv5002082,essv5118383,essv5002061,essv5058260,essv5118047,essv5121578,essv5017077,essv5013192,essv5095522,essv5034396,essv5083823,essv5047053,essv5102870,essv5046703,essv5136639,essv5033240,essv5088223,essv5067125,essv5075177,essv5120647,essv5029297,essv5079766,essv5024892,essv5141282,essv5063680,essv5034820,essv5108933,essv5160759,essv5144000,essv5076701,essv5096191,essv5002781,essv5148845,essv5114704,essv5024798,essv5097536,essv5137144,essv5047205,essv5024996,essv5057233,essv5042562,essv5056217,essv5104845,essv5161104,essv5045781,essv5085550,essv5060430,essv5054215,essv5116483,essv5109010,essv5076387,essv5009515,essv5133772,essv5033491,essv5153184,essv5033852,essv5079161,essv5142235,essv5119302,essv5109197,essv5081810,essv5143137,essv5099140,essv5042643,essv5142461,essv5160965,essv5131650,essv5054071,essv5105167,essv5151164,essv5040050,essv5132188,essv5006859,essv5076199,essv5005993,essv5089276,essv5027096,essv5079564,essv5123452,essv5065022,essv5075179,essv5092364,essv5004825,essv5078289,essv5112657,essv5065171,essv5060859,essv5075188,essv5096556,essv5053682,essv5051157,essv5076863,essv5127608,essv5104027,essv5135597,essv5013504,essv5063979,essv5055579,essv5101457,essv5024171,essv5010186,essv5103681,essv5070324,essv5044781,essv5095406,essv5038342,essv5141230,essv5035591,essv5106075,essv5128578,essv5092582,essv5002382,essv5014017,essv5063528,essv5028594,essv5110979,essv5093990,essv5097592,essv5157916,essv5152708,essv5085523,essv5071639,essv5010557,essv5009457,essv5073066,essv5112382,essv5076348,essv5144937,essv5099427,essv5008910,essv5121475,essv5017955,essv5010796,essv5072242,essv5112296,essv5143528,essv5083595,essv5038055,essv5079953,essv5117870,essv5126311,essv5150212,essv5051694,essv5024816,essv5105690,essv5108842,essv5047614,essv5118207,essv5067411,essv5133560,essv5098999,essv5125801,essv5090735,essv5028683,essv5108521,essv5135241,essv5003312,essv5006381,essv5021175,essv5016840,essv5139383,essv5091453,essv5104341,essv5068997,essv5038779,essv5148749,essv5140937,essv5037224,essv5040253,essv5044025,essv5117694,essv5092627,essv5065829,essv5105836,essv5122083,essv5019663,essv5005548,essv5038336,essv5052802,essv5116687,essv5095498,essv5079517,essv5005684,essv5076717,essv5030855,essv5018619,essv5159789,essv5055839,essv5141166,essv5004420,essv5020468,essv5131049,essv5120150,essv5025678,essv5007245,essv5030180,essv5105848,essv5135875,essv5007162,essv5090157,essv5150191,essv5143548,essv5131738,essv5082834,essv5069503,essv5045924,essv5160655,essv5078693,essv5108479,essv5100853,essv5154333,essv5049927,essv5153556,essv5082821,essv5045044,essv5104579,essv5049315,essv5076815,essv5018845,essv5132635,essv5023461,essv5128645,essv5102189,essv5143475,essv5136546,essv5026579,essv5086639,essv5005887,essv5066471,essv5082908,essv5034251,essv5150030 M 1184 77 244 "" NA06989,NA06994,NA06995,NA07029,NA07055,NA07345,NA07348,NA07435,NA10830,NA10831,NA10843,NA10846,NA10847,NA10856,NA10859,NA10863,NA11830,NA11839,NA11881,NA11882,NA11892,NA11893,NA11917,NA11918,NA11919,NA12006,NA12044,NA12056,NA12146,NA12154,NA12264,NA12273,NA12282,NA12335,NA12340,NA12375,NA12383,NA12708,NA12716,NA12718,NA12814,NA12817,NA12828,NA12829,NA12842,NA12872,NA12873,NA12877,NA12889,NA12890,NA17975,NA17979,NA17980,NA17983,NA17987,NA17990,NA17997,NA17999,NA18101,NA18105,NA18106,NA18107,NA18108,NA18112,NA18117,NA18118,NA18124,NA18128,NA18138,NA18139,NA18141,NA18143,NA18151,NA18152,NA18156,NA18159,NA18498,NA18504,NA18510,NA18517,NA18518,NA18520,NA18524,NA18532,NA18552,NA18555,NA18557,NA18561,NA18570,NA18594,NA18603,NA18608,NA18613,NA18615,NA18617,NA18622,NA18623,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18637,NA18638,NA18694,NA18749,NA18852,NA18854,NA18859,NA18862,NA18863,NA18871,NA18872,NA18873,NA18916,NA18923,NA18924,NA18951,NA18954,NA18955,NA18956,NA18957,NA18959,NA18964,NA18965,NA18966,NA18970,NA18974,NA18979,NA18993,NA19005,NA19041,NA19059,NA19062,NA19063,NA19064,NA19067,NA19077,NA19078,NA19081,NA19085,NA19087,NA19088,NA19093,NA19101,NA19102,NA19117,NA19122,NA19128,NA19129,NA19130,NA19137,NA19139,NA19140,NA19142,NA19147,NA19148,NA19159,NA19176,NA19181,NA19182,NA19194,NA19201,NA19203,NA19206,NA19223,NA19307,NA19327,NA19360,NA19375,NA19379,NA19383,NA19403,NA19404,NA19430,NA19431,NA19436,NA19474,NA19625,NA19649,NA19651,NA19657,NA19663,NA19676,NA19677,NA19679,NA19700,NA19703,NA19705,NA19712,NA19713,NA19723,NA19750,NA19751,NA19776,NA19900,NA19902,NA19904,NA19908,NA19916,NA19918,NA20127,NA20128,NA20277,NA20289,NA20290,NA20291,NA20294,NA20322,NA20332,NA20333,NA20340,NA20341,NA20343,NA20347,NA20356,NA20357,NA20502,NA20508,NA20509,NA20515,NA20516,NA20517,NA20518,NA20521,NA20524,NA20527,NA20540,NA20542,NA20543,NA20581,NA20582,NA20752,NA20753,NA20757,NA20758,NA20770,NA20787,NA20796,NA20802,NA20803,NA20807,NA20808,NA20810,NA20811,NA20815,NA20816,NA20826,NA20828,NA20846,NA20847,NA20849,NA20851,NA20854,NA20856,NA20858,NA20859,NA20861,NA20866,NA20869,NA20870,NA20871,NA20872,NA20875,NA20877,NA20879,NA20881,NA20883,NA20887,NA20889,NA20892,NA20894,NA20896,NA20898,NA20901,NA20904,NA20907,NA20911,NA21086,NA21088,NA21089,NA21091,NA21092,NA21094,NA21099,NA21100,NA21102,NA21103,NA21107,NA21109,NA21112,NA21115,NA21137,NA21141,NA21144,NA21295,NA21300,NA21313,NA21320,NA21339,NA21371,NA21457,NA21526,NA21527,NA21529,NA21580,NA21617,NA21631,NA21647,NA21648,NA21650,NA21682,NA21683,NA21686,NA21716,NA21717,NA21718,NA21738,NA21825 nsv820334 21 9719812 9786174 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420117 S 1 1 0 "" NA10851 esv28756 21 9719812 10209969 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18137,esv10775,esv14720,esv11634,esv18932,esv14620,esv13330,esv13930,esv10299,esv15016,esv18399,esv10837,esv10739 M 451 30 27 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv5204 21 9720676 9724636 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27645 S 1 0 0 Single Asian sample YH "" YH esv8991 21 9721340 9721395 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31432 S 1 1 0 "" SJK nsv834035 21 9721646 9791026 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455362,nssv1455355,nssv1455375,nssv1455354,nssv1455370,nssv1455359,nssv1455356,nssv1455353,nssv1455358,nssv1455364,nssv1455357,nssv1455361,nssv1455360,nssv1455363,nssv1455374,nssv1455366,nssv1455373,nssv1455381,nssv1455368,nssv1455371,nssv1455372,nssv1455369,nssv1455379,nssv1455385,nssv1455378,nssv1455380,nssv1455384,nssv1455382,nssv1455383,nssv1455367,nssv1455386,nssv1455376,nssv1455365,nssv1455377 M 95 1 33 "" esv6965 21 9721715 9722121 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29406 S 1 0 1 "" SJK esv8133 21 9725092 9742780 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30574 S 1 0 0 "" SJK esv6494 21 9725561 9726135 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28935 S 1 0 1 "" SJK esv8524 21 9726549 9727073 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30965 S 1 0 1 "" SJK esv9405 21 9727810 9728112 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31846 S 1 0 1 "" SJK nsv913329 21 9730102 9933727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574049 S 6533 1 0 TPTE IS33504 esv5841 21 9733433 9742177 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28282 S 1 0 1 "" SJK esv9028 21 9733953 9734631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31469 S 1 0 1 "" SJK esv6005 21 9734800 9735655 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28446 S 1 0 1 "" SJK nsv513565 21 9739217 9739489 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626817 S 1 1 0 "" 1 esv1322445 21 9739514 9739514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183530 S 2 1 0 "" HuRef esv5646 21 9741441 9741779 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28087 S 1 0 1 "" SJK nsv436073 21 9742686 9749095 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465730 S 2 1 0 "" NA15510 esv5506 21 9743963 9745535 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27947 S 1 0 1 "" SJK esv6179 21 9747084 9747697 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28620 S 1 0 1 "" SJK esv269255 21 9747142 9747499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518730,essv2514969,essv2515953,essv2518390 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12812,NA12873,NA19240 esv272400 21 9747142 9747499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581258 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv834037 21 9749033 9791026 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455389,nssv1455388,nssv1455387,nssv1455390,nssv1455391,nssv1455394,nssv1455393,nssv1455392,nssv1455396,nssv1455395 M 95 0 10 "" nsv913330 21 9749696 9876943 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504807,nssv1512412,nssv1513205 M 6533 2 1 "" SP52732,SP55488,SP55694 dgv4664n71 21 9749696 9889293 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913332,nsv913331 M 6533 5 0 "" SP50783,SP56144,SP56152,SP56887,SP81047 esv7190 21 9754386 9754908 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29631 S 1 0 1 "" SJK esv6814 21 9755678 9756049 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29255 S 1 0 1 "" SJK esv5386 21 9756227 9756928 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27827 S 1 0 0 Single Asian sample YH "" YH nsv442783 21 9758742 9965425 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TPTE esv272588 21 9765140 9765225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581523 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv435741 21 9766249 9776454 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465733 S 2 0 1 "" NA15510 esv9357 21 9766405 9778193 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31798 S 1 0 1 "" SJK dgv69n68 21 9769016 9961611 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv834038,nsv834039 M 95 0 46 TPTE esv9500 21 9769505 9781983 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31941 S 1 0 0 "" SJK nsv428382 21 9769636 10197104 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453898,nssv453889,nssv453885,nssv453890,nssv453902,nssv453883,nssv453884,nssv453882,nssv453878,nssv453879,nssv453888,nssv453880,nssv453901,nssv453887,nssv453899,nssv453900,nssv453881 M 62 12 5 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00467,HGDP00984,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA19108,NA19225 esv6109 21 9776773 9785137 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28550 S 1 0 0 "" SJK esv5551 21 9778408 9782357 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27992 S 1 0 1 "" SJK dgv4665n71 21 9783222 9889293 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913334,nsv913338,nsv913333 M 6533 5 0 "" SP51161,SP51175,SP52772,SP53425,SP80953 nsv821598 21 9786175 9906878 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420118 S 1 1 0 "" NA10851 esv3551 21 9786461 9787515 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25992 S 1 0 0 Single Asian sample YH "" YH esv5385 21 9787875 9795355 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27826 S 1 0 0 Single Asian sample YH "" YH esv8536 21 9788649 9794688 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30977 S 1 0 1 "" SJK dgv4666n71 21 9792697 9882667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913335,nsv913336 M 6533 0 3 "" SP50943,SP54373,SP54442 nsv913337 21 9792697 9939641 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501907 S 6533 1 0 TPTE SP51007 esv7727 21 9794839 9795360 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30168 S 1 0 1 "" SJK esv5655 21 9800110 9801249 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28096 S 1 0 1 "" SJK esv8793 21 9802636 9821443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31234 S 1 0 1 "" SJK esv9024 21 9803400 9808150 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31465 S 1 0 1 "" SJK esv6469 21 9805434 9812284 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28910 S 1 0 1 "" SJK esv4336 21 9806641 9874318 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26777 S 1 0 0 Single Asian sample YH "" YH esv6396 21 9808008 9819327 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28837 S 1 0 1 "" SJK dgv72n16 21 9815436 9844265 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436330,nsv436332,nsv436328 M 2 0 1 "" NA18505 esv8935 21 9835037 9852290 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31376 S 1 0 1 "" SJK esv5745 21 9835462 9838924 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28186 S 1 0 1 "" SJK esv2503947 21 9840838 9842293 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248437 S 1 0 1 "" NA18507 esv6127 21 9846962 9849916 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28568 S 1 0 1 "" SJK esv5588 21 9869486 9870082 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28029 S 1 0 1 "" SJK nsv9837 21 9873683 10009657 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27812,nssv25526,nssv28683,nssv26626 M 31 2 2 Samples from several populations that are part of the HapMap project. TPTE NA18502,NA18563,NA19144,NA19221 dgv711n67 21 9885862 9966072 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828810,nsv828815 M 31 9 0 TPTE AK4,NA18542,NA18566,NA18947,NA18951,NA18968,NA18969,NA18973,NA18999 dgv712n67 21 9885862 10084431 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828816,nsv828813,nsv828814,nsv828812,nsv828811 M 31 5 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE AK18,AK2,AK20,AK6,NA18582 nsv819313 21 9886062 9969723 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418761 S 2 1 0 TPTE AK1 esv32564 21 9886917 10198154 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98690,essv98662,essv101039,essv95094,essv98165,essv101357,essv97950,essv99077,essv93241,essv98366,essv94285 M 51 5 6 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE 21606,21693,21721,21772,21805,21837,21938,22170,22352,22394 esv29976 21 9887804 10189119 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84215 S 2 1 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE HuRef esv1010955 21 9908990 9924396 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565306 S 3 0 0 "" HuRef nsv834040 21 9914909 9960850 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455454,nssv1455453,nssv1455451,nssv1455452,nssv1455456,nssv1455460,nssv1455461,nssv1455455,nssv1455459,nssv1455457,nssv1455458,nssv1455463,nssv1455462,nssv1455450,nssv1455448,nssv1455449,nssv1455444,nssv1455443,nssv1455445,nssv1455447,nssv1455446 M 95 0 21 TPTE nsv437841 21 9928860 10207652 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467722 S 60 0 1 Samples from several populations that are part of the HapMap project. BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE NA19094 dgv67n17 21 9938787 9995200 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437843,nsv437842 M 60 0 2 TPTE NA19142,NA19173 dgv1348e1 21 9941889 10022975 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18016,essv18782 M 271 0 0 TPTE NA12878,NA12891 dgv1349e1 21 9941889 10105718 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1328,essv7881,essv10189,essv17681,essv4309,essv21623,essv17364,essv2706 M 271 0 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE NA07348,NA10835,NA18516,NA18517,NA18564,NA18944,NA18973,NA19140 esv720 21 9941889 10197104 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE esv1000174 21 9965207 10199625 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563562 S 3 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE HuRef nsv436336 21 9966561 10199536 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465737 S 2 0 1 Samples from several populations that are part of the HapMap project. BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE NA18505 nsv512628 21 9967001 10200120 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625242 S 1 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE 1 nsv438312 21 9978594 10033019 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470778,nssv470783,nssv470781,nssv470784,nssv470788,nssv470782,nssv470776,nssv470777,nssv470779,nssv470780,nssv470787,nssv470786 M 269 0 12 Samples from several populations that are part of the HapMap project. TPTE NA06985,NA07357,NA10835,NA12248,NA12249,NA18562,NA19092,NA19094,NA19140,NA19142,NA19172,NA19173 esv269554 21 9989054 9989139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519098 S 157 1 0 Samples from several populations that are part of the HapMap project. TPTE NA19141 esv992725 21 9991015 9991312 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569580 S 3 0 1 TPTE HuRef esv991443 21 10003587 10192273 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565672 S 3 0 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5,TPTE HuRef nsv828817 21 10012956 10078639 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427968 S 31 1 0 BAGE2,BAGE3,BAGE4,BAGE5 AK8 nsv469643 21 10023841 10187384 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649570 M 265 0 2 Samples from several populations that are part of the HapMap project. BAGE,BAGE2,BAGE3,BAGE4,BAGE5 dgv1350e1 21 10023842 10197104 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18176,essv15894,essv6137,essv12991,essv10322 M 271 0 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA12057,NA18506,NA18532,NA18859,NA19223 nsv834041 21 10037729 10121693 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455466,nssv1455465,nssv1455464,nssv1455467 M 95 4 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 nsv9838 21 10041840 10149428 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27772,nssv24959,nssv27849,nssv26989,nssv25764,nssv25796,nssv26250,nssv27198,nssv25249,nssv24984,nssv28684,nssv27765,nssv27976,nssv27981 M 31 5 7 Samples from several populations that are part of the HapMap project. BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA07048,NA11830,NA12155,NA18502,NA18517,NA18552,NA18860,NA18980,NA19173,NA19221,NA19240 nsv820736 21 10041982 10209969 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420119 S 1 1 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA10851 esv1008267 21 10057808 10058760 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564927 S 3 0 1 BAGE2,BAGE3,BAGE4,BAGE5 HuRef esv9537 21 10058036 10058605 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31978 S 1 0 1 BAGE2,BAGE3,BAGE4,BAGE5 SJK esv987944 21 10058041 10058607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582806 S 3 0 1 BAGE2,BAGE3,BAGE4,BAGE5 HuRef nsv819478 21 10064749 10077180 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418631 S 2 1 0 BAGE2,BAGE3,BAGE4,BAGE5 AK1 esv1008615 21 10069064 10075741 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565321 S 3 0 1 BAGE2,BAGE3,BAGE4,BAGE5 HuRef nsv828818 21 10079454 10198329 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434120 S 31 1 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA18526 nsv471421 21 10079667 10120808 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548232,nssv548234,nssv548235 M 3 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 esv1001067 21 10088913 10088916 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570345 S 3 1 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 HuRef nsv512629 21 10103020 10140279 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625244 S 1 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 1 esv7291 21 10103608 10139278 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29732 S 1 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 SJK esv2563009 21 10107315 10107395 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354592 S 1 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA18507 nsv435743 21 10108553 10114985 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465738 S 2 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA15510 esv2474693 21 10110920 10115044 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179450 S 1 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA18507 nsv436329 21 10110998 10114870 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465739 S 2 0 1 Samples from several populations that are part of the HapMap project. BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA18505 esv999403 21 10111323 10114683 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563900 S 3 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 HuRef nsv498974 21 10111665 10114430 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585835 S 9 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 nsv3451 21 10113335 10138738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1615 S 9 1 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA19240 dgv73n16 21 10117898 10130427 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436342,nsv435742 M 2 0 2 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 NA15510,NA18505 nsv512630 21 10118293 10130357 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625245 S 1 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 1 esv999554 21 10118475 10123064 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564493 S 3 1 0 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 HuRef esv1002199 21 10118653 10131414 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565269 S 3 0 1 BAGE,BAGE2,BAGE3,BAGE4,BAGE5 HuRef nsv512631 21 10126630 10128888 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625246 S 1 0 1 "" 1 esv1001188 21 10128570 10135943 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564979 S 3 0 1 "" HuRef esv2568388 21 10138033 10138222 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246312 S 1 0 1 "" NA18507 dgv23e197 21 10138092 10138290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2595245,esv2608143 M 1 0 1 "" NA18507 esv2499584 21 10138172 10138353 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206705 S 1 0 1 "" NA18507 esv2524843 21 10139806 10139939 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234873 S 1 0 1 "" NA18507 nsv187340 21 10143933 10144079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205918 M 24 "" esv6779 21 10144396 10144529 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29220 S 1 0 1 "" SJK esv8022 21 10144598 10144685 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30463 S 1 1 0 "" SJK esv5906 21 10144665 10144762 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28347 S 1 1 0 "" SJK esv9032 21 10147313 10148534 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31473 S 1 0 1 "" SJK nsv187383 21 10148965 10149146 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205961 M 24 "" dgv98e180 21 10149117 10149181 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989043,esv1009239 M 3 0 1 "" HuRef esv1586250 21 10149131 10149183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863033 S 2 0 1 "" HuRef esv7993 21 10149413 10149669 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30434 S 1 0 1 "" SJK esv1006646 21 10153854 10160618 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564903 S 3 0 1 "" HuRef esv5662 21 10155096 10156140 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28103 S 1 0 1 "" SJK esv8382 21 10159294 10159389 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30823 S 1 1 0 "" SJK esv8680 21 10159624 10159700 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31121 S 1 1 0 "" SJK esv2979 21 10164115 10165057 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25420 S 1 0 0 Single Asian sample YH "" YH esv5492 21 10164551 10164697 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27933 S 1 0 1 "" SJK esv1005667 21 10165263 10165915 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564782 S 3 0 1 "" HuRef esv990244 21 10167473 10167550 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579522 S 3 0 1 "" HuRef esv9723 21 10168059 10168321 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32164 S 1 0 1 "" SJK nsv9839 21 10173311 10202652 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27208,nssv25549,nssv24237,nssv26639 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18563,NA18942,NA19144,NA19240 esv271621 21 10193206 10193291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517148 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv1006557 21 10208093 10209919 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586188 S 3 1 0 "" HuRef esv7058 21 10208113 10209864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29499 S 1 0 1 "" SJK esv29704 21 13260326 13290495 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11295,esv19489 M 451 2 0 "" NA15510,NA19114 esv1299733 21 13262065 13262065 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997868 S 2 1 0 "" HuRef esv3879 21 13267291 13267656 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26320 S 1 0 0 Single Asian sample YH "" YH nsv834042 21 13270446 13414060 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455468 S 95 1 0 ANKRD30BP2 dgv88e19 21 13270759 13287357 CNV Loss Ahn et al 2009 19470904 Sequencing esv9592,esv6158 M 1 0 1 "" SJK nsv436862 21 13275783 13288637 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465744 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2751923 21 13291078 14258658 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982195,essv6989588 M 771 0 1 ANKRD30BP2,C21orf15,C21orf81,MIR3156-3,POTED BEC_401 nsv913340 21 13304376 13374118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513987 S 6533 0 1 ANKRD30BP2 SP55878 nsv436344 21 13334337 13347478 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465745 S 2 0 1 Samples from several populations that are part of the HapMap project. ANKRD30BP2 NA18505 esv273458 21 13336835 13336920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581516 S 7 1 0 Samples from several populations that are part of the HapMap project. ANKRD30BP2 NA12878 esv992515 21 13336864 13336864 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585956 S 3 1 0 ANKRD30BP2 HuRef dgv1351e1 21 13354570 14261623 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23753,essv20873,essv5693,esv703 M 271 0 0 ANKRD30BP2,C21orf15,C21orf81,MIR3156-3,POTED NA11994,NA12145,NA18550 nsv9841 21 13359370 13390072 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28685 S 31 0 1 Samples from several populations that are part of the HapMap project. ANKRD30BP2 NA19221 nsv913341 21 13374118 13423345 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536018 S 6533 1 0 ANKRD30BP2 MS12597 dgv4667n71 21 13374118 13446559 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv913343,nsv913342 M 6533 12 3 ANKRD30BP2 IS33689,IS34066,IS34468,IS34820,IS37068,IS38161,IS39272,IS41831,IS41971,MS10699,MS10729,MS19736,MS21201,SP55662,SP81264 esv2421799 21 13374118 13471836 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143889,essv5025246,essv5014909,essv5074394,essv5140660,essv5130557,essv5109090,essv5123433,essv5125176,essv5122467,essv5034580,essv5010189,essv5094354,essv5120211,essv5004512,essv5143505,essv5025409,essv5157663,essv5064922,essv5010103,essv5124601,essv5117017,essv5011178,essv5020649,essv5150452,essv5161098,essv5100254,essv5037810,essv5139482,essv5093617,essv5090055,essv5101230,essv5137059,essv5024278,essv5081288,essv5030712,essv5142297,essv5156796,essv5066503,essv5024583,essv5107710,essv5139977,essv5012983,essv5075694,essv5037058,essv5005866,essv5156304,essv5093828,essv5053472,essv5026677,essv5014233,essv5141480,essv5074120,essv5036137,essv5061607,essv5074596,essv5154823,essv5158015,essv5072363,essv5117594,essv5086858,essv5046043,essv5023956,essv5007654,essv5125298,essv5066680,essv5111628,essv5091530,essv5047844,essv5106796,essv5095827,essv5105128,essv5074365,essv5068387,essv5048446,essv5098216,essv5091072,essv5040261,essv5146192,essv5007785,essv5066053,essv5070418,essv5152643,essv5094862,essv5124278,essv5133082,essv5151008,essv5038807,essv5055490,essv5114678,essv5019502,essv5047115,essv5006176,essv5034119,essv5140492,essv5004166,essv5006206,essv5078365,essv5150832,essv5124553,essv5074923,essv5036930,essv5121407,essv5061473,essv5090883,essv5059776,essv5090222,essv5130891,essv5117916,essv5152950,essv5095509,essv5127604,essv5020125,essv5033672,essv5149216,essv5139169,essv5028508,essv5084996,essv5079729,essv5098191,essv5086111,essv5128827,essv5094935,essv5035094,essv5118541,essv5085758,essv5098744,essv5108705,essv5033013,essv5033874,essv5030558,essv5048724,essv5043740,essv5126646,essv5047897,essv5133926,essv5153680,essv5021484,essv5070068,essv5100861,essv5005167,essv5035612,essv5127908,essv5022775,essv5010919,essv5037126,essv5063142,essv5072877,essv5079429,essv5039528,essv5098462,essv5020398,essv5085720,essv5027434,essv5131160,essv5004974,essv5012683,essv5020885,essv5041318,essv5091238,essv5011997,essv5007636,essv5033252,essv5102231,essv5149663,essv5119432,essv5030818,essv5088438,essv5095636,essv5034478,essv5046492,essv5115798,essv5091216,essv5070925,essv5030100,essv5005220,essv5066957,essv5007028,essv5095693,essv5051843,essv5082247,essv5043500,essv5051451,essv5145735,essv5126908,essv5153898,essv5079833,essv5134680,essv5095248,essv5124569,essv5091807,essv5125441,essv5157563,essv5152502,essv5022264,essv5148419,essv5017194,essv5048857,essv5069573,essv5131333,essv5101434,essv5124776,essv5074898,essv5129804,essv5052630,essv5043195,essv5159689,essv5121635,essv5074673,essv5059164,essv5149747,essv5095518,essv5103988,essv5030434,essv5158378,essv5041976,essv5022304,essv5064773,essv5125942,essv5142959,essv5021793,essv5065313,essv5103395,essv5116513,essv5020525,essv5113075,essv5147614,essv5050155,essv5148491,essv5014205,essv5157566,essv5010440,essv5013177,essv5116077,essv5029369,essv5049764,essv5062363,essv5158725,essv5152891,essv5158371,essv5083679,essv5115866,essv5082118,essv5102867,essv5020460,essv5133058,essv5150255,essv5145456,essv5015911,essv5078461,essv5052236,essv5100560,essv5002065,essv5070165,essv5104488,essv5028383,essv5037861,essv5139710,essv5150743,essv5008363,essv5015725,essv5119732,essv5089167,essv5094299,essv5022026,essv5149360,essv5115686,essv5018615,essv5139788,essv5075943,essv5059028,essv5053544,essv5153173,essv5125955,essv5150018,essv5144699,essv5155871,essv5051936,essv5094445,essv5020594,essv5023211,essv5082919,essv5078791,essv5118110,essv5127879,essv5128065,essv5067979,essv5128873,essv5138060,essv5061957,essv5018817,essv5016738,essv5092402,essv5031512,essv5049382,essv5147769,essv5032895,essv5097463,essv5088542,essv5070917,essv5075596,essv5123593,essv5142960,essv5083232,essv5091168,essv5041266,essv5121448,essv5019966,essv5156553,essv5042716,essv5137845,essv5128011,essv5105284,essv5010673,essv5036314,essv5127488,essv5142972,essv5156281,essv5002374,essv5095359,essv5051107,essv5085330,essv5115159,essv5038700,essv5061300,essv5036116,essv5134567,essv5111565,essv5057463,essv5017371,essv5072323,essv5090211,essv5080556,essv5031607,essv5017482,essv5030939,essv5104101,essv5106214,essv5025192,essv5130533,essv5103680,essv5152206,essv5059221,essv5058913,essv5125774,essv5021812,essv5117761,essv5053390,essv5023979,essv5071896,essv5033609,essv5094198,essv5099512,essv5151979,essv5158588,essv5159404,essv5052697,essv5035288,essv5127351,essv5116061,essv5084704,essv5026363,essv5086545,essv5040399,essv5085076,essv5036661,essv5137800,essv5148905,essv5006834,essv5024195,essv5113562,essv5039682,essv5150415,essv5080306,essv5016255,essv5136756,essv5017960,essv5135595,essv5120885,essv5008223,essv5064912,essv5069436,essv5156305,essv5038756,essv5044301,essv5138695,essv5008894,essv5090825,essv5096719,essv5005722,essv5081829,essv5155818,essv5049786,essv5098901,essv5157936,essv5006944,essv5082794,essv5078644,essv5134578,essv5083309,essv5006330,essv5031755,essv5013343,essv5008529,essv5048963,essv5106753,essv5061363,essv5133794,essv5066242,essv5089681,essv5134847,essv5112548,essv5032244,essv5083105,essv5075039,essv5057574,essv5049890,essv5017357,essv5159940,essv5077242,essv5015728,essv5019853,essv5059915,essv5018361,essv5105774,essv5039324,essv5118892,essv5019290,essv5154302,essv5140798,essv5023103,essv5005505,essv5071978,essv5065942,essv5048036,essv5031766,essv5084633,essv5051208,essv5050978,essv5077675,essv5131340,essv5108794,essv5049832,essv5003309,essv5153049,essv5024761,essv5144525,essv5042205,essv5054471,essv5108492,essv5144118,essv5102827,essv5042284,essv5031558,essv5003531,essv5120678,essv5070381,essv5017308,essv5123917,essv5082140,essv5084571,essv5013539,essv5041164,essv5004274,essv5047130,essv5132238,essv5023277,essv5017768,essv5011455,essv5136099,essv5032173,essv5011199,essv5034464,essv5019467,essv5006629,essv5050078,essv5050226,essv5009883,essv5035262,essv5030339,essv5093687,essv5089532,essv5089452,essv5006228,essv5011383,essv5158488,essv5068923,essv5157411,essv5051079,essv5123704,essv5057930,essv5110392,essv5095579,essv5020182,essv5064607,essv5151860,essv5088130,essv5027614,essv5116827,essv5039579,essv5128040,essv5139591,essv5158954,essv5011773,essv5157859,essv5037860,essv5019173,essv5110596,essv5048726,essv5090028,essv5143178,essv5026298,essv5083162,essv5081663,essv5030269,essv5009728,essv5066046,essv5042499,essv5136027,essv5086200,essv5091105,essv5098419,essv5016356,essv5092639,essv5012788,essv5134757,essv5131400,essv5098284,essv5128814,essv5076824,essv5084440,essv5140609,essv5093995,essv5008052,essv5120980,essv5151648,essv5155536,essv5100710,essv5050764,essv5137559,essv5016847,essv5044813,essv5046688,essv5142328,essv5145643,essv5117561,essv5088080,essv5139370,essv5003290,essv5077288 M 1184 0 550 ANKRD30BP2 NA07037,NA07347,NA07349,NA11839,NA11994,NA12145,NA12249,NA12340,NA12375,NA12383,NA12489,NA12753,NA12762,NA12767,NA12778,NA17962,NA17965,NA17966,NA17967,NA17975,NA17979,NA17987,NA17988,NA17990,NA17995,NA18101,NA18108,NA18114,NA18128,NA18129,NA18131,NA18133,NA18138,NA18139,NA18140,NA18146,NA18149,NA18151,NA18152,NA18153,NA18156,NA18158,NA18159,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18532,NA18536,NA18542,NA18545,NA18548,NA18550,NA18561,NA18562,NA18563,NA18566,NA18571,NA18577,NA18595,NA18597,NA18602,NA18608,NA18610,NA18611,NA18612,NA18617,NA18618,NA18621,NA18623,NA18627,NA18630,NA18631,NA18636,NA18637,NA18641,NA18647,NA18674,NA18745,NA18747,NA18749,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18867,NA18869,NA18870,NA18871,NA18872,NA18873,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18930,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18946,NA18947,NA18952,NA18953,NA18955,NA18956,NA18957,NA18961,NA18962,NA18968,NA18970,NA18971,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18991,NA18993,NA18994,NA18998,NA19000,NA19001,NA19005,NA19009,NA19027,NA19038,NA19041,NA19044,NA19054,NA19056,NA19058,NA19059,NA19063,NA19070,NA19072,NA19075,NA19076,NA19077,NA19079,NA19083,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19127,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19174,NA19175,NA19176,NA19179,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19198,NA19200,NA19202,NA19203,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19237,NA19238,NA19239,NA19240,NA19247,NA19249,NA19256,NA19257,NA19258,NA19307,NA19309,NA19311,NA19313,NA19315,NA19316,NA19317,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19371,NA19372,NA19375,NA19377,NA19379,NA19381,NA19382,NA19383,NA19390,NA19393,NA19394,NA19398,NA19403,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19444,NA19445,NA19446,NA19449,NA19451,NA19452,NA19455,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19669,NA19682,NA19701,NA19703,NA19705,NA19708,NA19711,NA19719,NA19726,NA19727,NA19746,NA19783,NA19784,NA19788,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19982,NA19983,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20292,NA20294,NA20295,NA20301,NA20302,NA20322,NA20334,NA20336,NA20337,NA20342,NA20343,NA20346,NA20347,NA20348,NA20356,NA20357,NA20359,NA20360,NA20363,NA20364,NA20524,NA20527,NA20581,NA20754,NA20770,NA20771,NA20786,NA20792,NA20811,NA20815,NA20856,NA20858,NA20861,NA20866,NA20869,NA20875,NA20876,NA20881,NA20882,NA20885,NA20889,NA20897,NA20900,NA20908,NA21090,NA21118,NA21119,NA21123,NA21125,NA21141,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21360,NA21361,NA21362,NA21363,NA21364,NA21366,NA21367,NA21368,NA21370,NA21378,NA21379,NA21383,NA21384,NA21385,NA21387,NA21389,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21415,NA21420,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21442,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21478,NA21479,NA21480,NA21485,NA21488,NA21489,NA21490,NA21493,NA21494,NA21510,NA21512,NA21513,NA21514,NA21517,NA21520,NA21521,NA21522,NA21524,NA21525,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21613,NA21614,NA21615,NA21619,NA21620,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21682,NA21683,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21733,NA21738,NA21740,NA21768,NA21784,NA21825,NA21826 nsv442784 21 13374733 13463240 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ANKRD30BP2 nsv913344 21 13391465 13446559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590497 S 6533 1 0 ANKRD30BP2 IS38515 nsv913345 21 13407505 13433199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555880 S 6533 1 0 ANKRD30BP2 MS21677 nsv913346 21 13410014 13424531 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595077,nssv1577401,nssv1565298,nssv1565406,nssv1523084,nssv1571382 M 6533 4 2 ANKRD30BP2 IS30388,IS30411,IS32714,IS34434,IS40098,SP53616 nsv913347 21 13410014 13424643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553309 S 6533 1 0 ANKRD30BP2 MS19922 nsv913348 21 13410014 13433199 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532962,nssv1558292,nssv1559455,nssv1554426,nssv1529226,nssv1560043,nssv1557178,nssv1588919,nssv1551899,nssv1537505,nssv1572901,nssv1586485,nssv1553334,nssv1577980,nssv1561611,nssv1593041,nssv1560124,nssv1570997,nssv1596590,nssv1571819,nssv1572423,nssv1565322,nssv1552525,nssv1593190,nssv1565742,nssv1555454,nssv1569179,nssv1577620,nssv1577846 M 6533 20 9 ANKRD30BP2 IS30389,IS30516,IS31487,IS32411,IS32819,IS33040,IS33192,IS34497,IS34582,IS34627,IS37825,IS38266,IS39341,IS39365,IS40571,MS10950,MS13230,MS19006,MS19486,MS19930,MS20797,MS21343,MS22454,MS23191,MS23983,MS24272,MS24330,MS25121,SP81481 nsv834043 21 13417946 13626939 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455469 S 95 1 0 "" nsv913349 21 13421704 13433199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535865 S 6533 0 1 "" MS12510 dgv4668n71 21 13446559 13605856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913353,nsv913350,nsv913351 M 6533 0 3 "" IS38490,IS38521,SP54936 dgv4669n71 21 13470495 13605856 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913354,nsv913352 M 6533 2 0 "" IS38654,SP57665 nsv438313 21 13483810 13497625 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470789 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18550 dgv4670n71 21 13491188 13958176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913357,nsv913355,nsv913356 M 6533 0 3 MIR3156-3,POTED IS37621,SP52077,SP54648 nsv442489 21 13516106 14070004 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR3156-3,POTED nsv913358 21 13518148 13630549 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501660 S 6533 1 0 "" SP50979 nsv913359 21 13541925 13703830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577917 S 6533 0 1 MIR3156-3 IS34599 dgv4671n71 21 13552459 13770730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913361,nsv913360 M 6533 0 2 MIR3156-3 IS30413,IS37632 nsv469583 21 13556403 13707447 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649697 M 265 0 0 Samples from several populations that are part of the HapMap project. MIR3156-3 dgv1352e1 21 13556403 13829460 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv906,essv5347,essv5642 M 271 0 0 MIR3156-3 NA18563,NA18579,NA19000 essv5592 21 13556403 13942143 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR3156-3,POTED NA18529 nsv428383 21 13556403 14152724 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453903,nssv453912,nssv453910,nssv453906,nssv453911,nssv453905,nssv453907 M 62 0 7 C21orf15,MIR3156-3,POTED HGDP00460,HGDP00478,HGDP01088,HGDP01094,NA18498,NA18916,NA19108 nsv470875 21 13562271 13950406 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544748 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR3156-3,POTED HGDP01032 nsv470876 21 13562271 13950406 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544749,nssv544750 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR3156-3,POTED HGDP00478,HGDP00983 dgv36n64 21 13562271 14095717 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817911,nsv817912 M 112 0 2 MIR3156-3,POTED NA11994,NA18550 nsv515654 21 13562271 14197852 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660336,nssv662278,nssv695323,nssv694124,nssv683978,nssv679320,nssv700291,nssv676715,nssv657722,nssv672081,nssv660995,nssv664258,nssv682575,nssv660399,nssv684368 M 2026 5 10 C21orf15,MIR3156-3,POTED esv998884 21 13572634 13572714 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569929 S 3 0 1 "" HuRef esv1195739 21 13572635 13572716 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872277 S 2 0 1 "" HuRef nsv438314 21 13588035 13603210 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470790 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18550 esv33625 21 13600161 13600256 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93765 S 51 0 1 "" 21972 esv34414 21 13613200 13891800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979336,essv6979337,essv6990352 M 771 1 0 MIR3156-3 NA18529 essv4110 21 13613238 13749569 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR3156-3 NA18529 dgv4672n71 21 13618531 13733610 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913362,nsv913364 M 6533 0 2 MIR3156-3 IS38513,IS40769 dgv4673n71 21 13618531 13981520 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913368,nsv913363 M 6533 0 2 MIR3156-3,POTED IS37503,SP54095 dgv1353e1 21 13634878 14152724 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24226,essv14569,essv562,essv1726,essv17936,essv4662,essv24664,essv19560,essv4791,essv5450,essv7574,essv16061,essv175,essv10331 M 271 0 0 C21orf15,MIR3156-3,POTED NA10856,NA11829,NA12003,NA12864,NA18501,NA18506,NA18545,NA18594,NA18620,NA18632,NA18968,NA18997,NA18998,NA19202 nsv9842 21 13636612 13665524 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25572 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 esv26250 21 13646767 13672580 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20521,esv10523 M 451 2 2 "" NA12776,NA12878,NA18511,NA19240 nsv913365 21 13650010 13733610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595456 S 6533 0 1 MIR3156-3 IS40230 nsv913366 21 13650010 13770730 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596581,nssv1525471,nssv1587424 M 6533 1 2 MIR3156-3 IS38050,IS40571,SP56631 nsv913367 21 13650010 13891136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526596 S 6533 1 0 MIR3156-3 SP57665 nsv821235 21 13664873 13672580 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420120 S 1 1 0 "" NA10851 esv1450021 21 13673602 13673676 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974937 S 2 0 1 "" HuRef nsv913369 21 13677116 13733610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590767,nssv1586593 M 6533 0 2 MIR3156-3 IS37874,IS38582 nsv913370 21 13677116 13753478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518435 S 6533 1 0 MIR3156-3 SP57553 dgv4674n71 21 13677116 13786841 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913371,nsv913373,nsv913374 M 6533 0 3 MIR3156-3 IS30635,IS41098,SP55800 nsv913372 21 13677116 13786841 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501353 S 6533 1 0 MIR3156-3 SP50979 nsv469555 21 13677345 13829345 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649666 M 265 0 2 Samples from several populations that are part of the HapMap project. MIR3156-3 nsv471707 21 13677346 13829345 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549207,nssv549201,nssv549203,nssv549202,nssv549205,nssv549204,nssv549206 M 48 1 6 MIR3156-3 JK776,NA10469,NA10470,NA10471,NA10493,NA10496,NA17059 nsv459090 21 13690214 13769165 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535922 S 1557 0 1 MIR3156-3 1798860277_A nsv817913 21 13690214 13895773 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417106 S 112 1 0 MIR3156-3 NA18529 nsv9843 21 13708317 13723932 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22481,nssv27241 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA12872,NA18504 nsv913375 21 13729179 13895773 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592731 S 6533 1 0 "" IS39243 nsv9844 21 13738070 13740098 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25009,nssv22630,nssv25619 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA12802,NA18564 nsv512632 21 13738471 13740144 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625247 S 1 0 1 "" 1 esv25526 21 13738734 13739562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11604 S 451 0 2 "" NA11993,NA12006 esv991308 21 13738734 13740303 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586108 S 3 0 1 "" HuRef nsv507910 21 13754606 13760606 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623307 S 4 1 0 "" NA18994 dgv4675n71 21 13786841 13958176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913378,nsv913379,nsv913376 M 6533 0 5 POTED IS33504,IS34599,IS37632,IS37874,IS40571 nsv913377 21 13805682 13903204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513580 S 6533 0 1 "" SP55800 esv28245 21 13810443 13812204 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20065 S 451 0 1 "" NA19099 nsv438316 21 13817281 13833806 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470791 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18529 essv3511 21 13829460 13933576 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. POTED NA18999 nsv469617 21 13831887 13995202 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649541 M 265 3 0 Samples from several populations that are part of the HapMap project. POTED nsv471708 21 13831888 13995202 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549586,nssv549577,nssv549583,nssv549580,nssv549581,nssv549584,nssv549591,nssv549593,nssv549579,nssv549587,nssv549592,nssv549578,nssv549588,nssv549589,nssv549582,nssv549594,nssv549585,nssv549590 M 48 0 18 POTED JK1051,JK1058,JK1061,JK1688,NA10470,NA10471,NA10473,NA10492,NA10493,NA10967,NA10971,NA10976,NA11523,NA15724,NA15732,NA17015,NA17051,NA17052 nsv9845 21 13843534 13857163 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25595 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 dgv1354e1 21 13850226 14152724 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv838,essv21648 M 271 0 0 C21orf15,POTED NA12761,NA18973 esv21968 21 13852857 14025073 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17638,esv15012 M 451 7 0 POTED NA07037,NA11931,NA12004,NA12749,NA15510,NA18861,NA19240 nsv828819 21 13854472 14065415 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440769 S 31 1 0 POTED NA18564 nsv9847 21 13856729 13862436 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25642 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 nsv913380 21 13862323 13958176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572171 S 6533 0 1 POTED IS32888 nsv913381 21 13866986 13958176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505288 S 6533 1 0 POTED SP53347 nsv9848 21 13869290 13890973 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25664,nssv24263 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18942 dgv1355e1 21 13879419 14043771 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10519,essv30,essv13581,essv13658,essv21225,essv21809,essv24867,essv22403,essv2898 M 271 0 0 POTED NA07000,NA11830,NA11839,NA12875,NA18953,NA18991,NA19119,NA19127,NA19240 nsv834044 21 13879419 14043771 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455477,nssv1455476,nssv1455474,nssv1455471,nssv1455475,nssv1455470,nssv1455472,nssv1455473 M 95 7 1 POTED nsv828821 21 13889159 14027700 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431029 S 31 1 0 POTED NA18968 nsv512633 21 13898618 13954774 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625248 S 1 0 1 POTED 1 nsv9849 21 13904937 14011178 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27991,nssv27601,nssv27856,nssv27039,nssv28686,nssv26056,nssv27251,nssv27986,nssv26999,nssv27218,nssv25818,nssv24319,nssv25786 M 31 2 9 Samples from several populations that are part of the HapMap project. POTED NA11830,NA12155,NA12740,NA18502,NA18504,NA18860,NA18942,NA18980,NA19132,NA19221,NA19240 nsv913382 21 13932886 14209755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526325 S 6533 1 0 C21orf15,POTED SP57165 nsv513566 21 13943661 13944546 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626818 S 1 1 0 "" 1 nsv438317 21 14003728 14020041 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470792,nssv470793 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10854,NA19161 nsv9850 21 14011178 14015502 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22511,nssv27228 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA19240 nsv470877 21 14027355 14137685 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544751 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C21orf15 HGDP00893 nsv459093 21 14027356 14137685 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535923 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C21orf15 HGDP00513 nsv459094 21 14070504 14137685 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535924 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C21orf15 HGDP00007 nsv913383 21 14071624 14132048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585689 S 6533 0 1 "" IS37621 nsv913384 21 14076029 14128555 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502093 S 6533 1 0 "" SP50979 nsv913385 21 14076029 14143629 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526597,nssv1595457,nssv1586595,nssv1564401,nssv1600191 M 6533 1 4 C21orf15 IS30206,IS37874,IS40230,IS41858,SP57665 nsv913386 21 14076029 14163409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572172 S 6533 0 1 C21orf15 IS32888 nsv913387 21 14076029 14209755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597210 S 6533 0 1 C21orf15 IS40769 esv33228 21 14092480 14203407 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100887,essv98251,essv93018,essv98988,essv93638,essv93314,essv100314 M 51 7 0 C21orf15 21656,21772,21863,21938,21972,22170,22300 nsv913388 21 14095717 14322489 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592732 S 6533 1 0 C21orf15,C21orf81 IS39243 essv6920 21 14098750 14261623 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C21orf15,C21orf81 NA18605 dgv4676n71 21 14137685 14197852 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913395,nsv913391,nsv913389,nsv913393 M 6533 10 0 C21orf15 IS33487,IS33575,IS41664,MS16643,MS24783,MS26073,SP52552,SP53333,SP54680,SP55339 nsv3452 21 14140040 14199327 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9601,nssv1616 M 9 0 2 C21orf15 NA18507,NA19240 nsv9851 21 14142926 14208339 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27767,nssv27995,nssv25686,nssv25274,nssv28687,nssv27609,nssv25808,nssv27049 M 31 4 4 Samples from several populations that are part of the HapMap project. "" NA12155,NA18552,NA18564,NA18860,NA18972,NA18980,NA19132,NA19221 nsv913390 21 14143629 14181811 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535714,nssv1535240,nssv1596450,nssv1559825 M 6533 1 3 "" IS40520,MS12092,MS12423,MS24162 nsv913392 21 14143629 14258290 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558863 S 6533 1 0 C21orf81 MS23582 esv29509 21 14145877 14196070 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17845,esv12899,esv14790 M 451 25 2 "" NA07037,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv511067 21 14148114 14167461 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622432 S 4 0 0 "" NA10860 esv8965 21 14152928 14191831 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31406 S 1 0 1 "" SJK dgv4677n71 21 14153631 14197852 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913394,nsv913397 M 6533 3 0 "" IS32761,IS33689,IS38162 nsv436341 21 14159478 14177489 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465748 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv913396 21 14160947 14197852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577218 S 6533 0 1 "" IS34393 nsv913398 21 14164423 14224557 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532611 S 6533 1 0 "" MS10784 nsv913399 21 14166030 14197852 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586216,nssv1578525,nssv1524260 M 6533 2 1 "" IS34803,IS37689,SP54941 nsv3453 21 14169640 14176151 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6950 S 9 1 0 "" NA12156 nsv3455 21 14181565 14189318 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6951 S 9 1 0 "" NA12156 nsv436335 21 14183578 14195106 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465749 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv821374 21 14185561 14194572 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420121 S 1 0 1 "" NA10851 nsv509786 21 14187012 14187012 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618138 S 4 1 0 "" CHM esv25073 21 14205091 14274260 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19216 S 451 1 0 C21orf81 NA19108 nsv9852 21 14210702 14212813 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28059 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv2508507 21 14260000 14319465 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265172 S 1 0 1 C21orf81 NA18507 nsv9853 21 14264213 14271598 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24756 S 31 1 0 Samples from several populations that are part of the HapMap project. C21orf81 NA10863 esv1005089 21 14269326 14364912 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565684 S 3 0 0 C21orf81 HuRef esv1062267 21 14350147 14350946 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192272 S 2 0 0 "" HuRef esv990249 21 14368735 14393147 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586501 S 3 1 0 "" HuRef esv32571 21 14378136 14389825 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99826 S 51 1 0 "" 22086 esv2562639 21 14381793 14384332 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311840 S 1 0 1 "" NA18507 nsv512634 21 14382131 14383759 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625249 S 1 0 1 "" 1 nsv527017 21 14398761 14404476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703392 S 2026 0 1 LIPI nsv913400 21 14413644 14498407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557710 S 6533 1 0 LIPI MS22814 nsv913401 21 14425877 14498407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565354 S 6533 0 1 LIPI IS30398 esv1678679 21 14455911 14455998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800698 S 2 0 1 LIPI HuRef nsv913402 21 14467221 14527999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567051 S 6533 0 1 LIPI,RBM11 IS31041 nsv523395 21 14474864 14475901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699145 S 2026 0 1 LIPI esv270148 21 14505432 14505742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496780,essv2494346,essv2509838,essv2500980,essv2510510,essv2496918,essv2501858,essv2498139 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18508,NA18856,NA19172,NA19190,NA19239,NA19240 esv273554 21 14505448 14505628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579994,essv2580943,essv2579739 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 nsv520538 21 14537091 14582410 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683210,nssv684758,nssv672267 M 2026 3 0 ABCC13 nsv459095 21 14548531 14620679 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535925 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC13 HGDP01090 nsv470878 21 14552683 14620679 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544752,nssv544753 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCC13 HGDP01084,HGDP01090 esv2446530 21 14573984 14575030 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215640 S 1 1 0 ABCC13 NA18507 esv272254 21 14574701 14574827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579139 S 7 1 0 Samples from several populations that are part of the HapMap project. ABCC13 NA19239 esv269832 21 14574707 14575034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540719,essv2571773,essv2546282,essv2521304,essv2556727,essv2545547,essv2523255,essv2577297,essv2548260,essv2521531,essv2576532,essv2525223,essv2554066,essv2547429,essv2564492,essv2565386,essv2576320,essv2554971,essv2530702,essv2528458,essv2557268,essv2569750,essv2540528,essv2534603,essv2522274,essv2539324,essv2568756,essv2537893,essv2554793,essv2547889,essv2563525,essv2558215 M 157 32 0 Samples from several populations that are part of the HapMap project. ABCC13 NA07000,NA07346,NA07347,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11994,NA12003,NA12004,NA12043,NA12045,NA12144,NA12154,NA12156,NA12287,NA12717,NA12751,NA12812,NA12814,NA12872,NA12873,NA12891,NA18499,NA18520,NA18552,NA18561,NA18571,NA18912,NA19147 nsv518723 21 14615347 14618142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696173 S 2026 0 1 "" nsv517231 21 14618073 14618142 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687819,nssv677216,nssv658475,nssv677736,nssv681000,nssv689897,nssv664257,nssv675176,nssv704478,nssv673207,nssv683747,nssv692837,nssv663799,nssv654076,nssv660937,nssv682235,nssv673569,nssv657617,nssv682808,nssv659503,nssv664922,nssv667600,nssv685421,nssv651947,nssv683170 M 2026 1 24 "" nsv913403 21 14665258 14708142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503666 S 6533 0 1 HSPA13 SP52093 nsv509787 21 14686535 14734014 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621132,nssv618139,nssv619853,nssv623832 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv3456 21 14720189 14752240 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5892,nssv6952,nssv1617,nssv10306,nssv9602,nssv2344,nssv4550 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv999580 21 14730623 14736733 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564457 S 3 1 0 "" HuRef esv1576607 21 14733687 14733687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950595 S 2 1 0 "" HuRef esv2500683 21 14749488 14751088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191692 S 1 0 1 "" NA18507 nsv187227 21 14769344 14769408 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205805 M 24 "" nsv523557 21 14784362 14792042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699336 S 2026 0 1 SAMSN1 dgv4678n71 21 14796979 14827451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913405,nsv913406 M 6533 0 2 SAMSN1 IS30597,SP54579 nsv913407 21 14807145 14820956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567480 S 6533 0 1 SAMSN1 IS31090 dgv4679n71 21 14807145 14830513 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913409,nsv913410,nsv913408 M 6533 0 3 SAMSN1 IS31558,MS21252,SP56004 nsv834045 21 14822549 15034721 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455486,nssv1455480,nssv1455482,nssv1455481,nssv1455487,nssv1455485,nssv1455484,nssv1455488,nssv1455479,nssv1455478,nssv1455483 M 95 0 11 SAMSN1 nsv834046 21 14825663 14999240 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455489,nssv1455490 M 95 1 1 SAMSN1 nsv522627 21 14830513 14858374 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706025 S 2026 1 0 SAMSN1 nsv470879 21 14868699 14886149 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544755 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00703 esv270938 21 14914095 14914384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505698,essv2495649,essv2501266 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18861,NA18916,NA19093 nsv3457 21 14918726 14964220 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6953 S 9 0 1 "" NA12156 esv2052848 21 14961321 14961750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745806 S 1 0 1 "" NA18507 nsv507911 21 14998397 15004397 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620688,nssv619274,nssv623308,nssv617949 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2201201 21 15196975 15197412 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544285 S 1 0 1 "" NA18507 esv2450907 21 15197154 15197232 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246612 S 1 0 1 "" NA18507 esv1611155 21 15197154 15197233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346471 S 2 0 1 "" HuRef nsv187115 21 15197155 15197233 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205693 M 24 "" nsv834048 21 15246352 15411441 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455491 S 95 1 0 NRIP1 esv268950 21 15274783 15274868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515358,essv2518131 M 157 2 0 Samples from several populations that are part of the HapMap project. NRIP1 NA12249,NA12872 dgv4680n71 21 15301896 15346292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913412,nsv913411 M 6533 0 3 NRIP1 IS30824,IS31123,IS35572 nsv517307 21 15304019 15309774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673407,nssv653808,nssv680716,nssv651826,nssv663005,nssv685518 M 2026 6 0 NRIP1 nsv527611 21 15304019 15321851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704075 S 2026 0 1 NRIP1 esv2565555 21 15324907 15325176 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296141 S 1 1 0 NRIP1 NA18507 esv1174346 21 15325046 15325096 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220524 S 2 0 1 NRIP1 HuRef esv22747 21 15325062 15326274 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10517 S 451 0 1 NRIP1 NA12749 esv1064466 21 15325216 15325364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097808 S 2 0 1 NRIP1 HuRef esv1672496 21 15325515 15325615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157751 S 2 0 1 NRIP1 HuRef nsv523396 21 15369625 15375227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699146 S 2026 0 1 "" esv269480 21 15370463 15370627 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498349,essv2508239,essv2507907,essv2508155,essv2496071,essv2503499,essv2500501,essv2500806 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18561,NA18564,NA18579,NA18603,NA18947,NA18956,NA18973 esv268578 21 15383629 15383939 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510984,essv2496624,essv2504407,essv2499346,essv2507983,essv2512434,essv2501668,essv2513170,essv2510362,essv2503427,essv2507752,essv2508821,essv2502808,essv2496216,essv2493723,essv2497308,essv2513017,essv2497169,essv2497738,essv2500004,essv2499928,essv2511318,essv2494479,essv2507615,essv2510044,essv2511658,essv2503552,essv2493120,essv2502611,essv2509452,essv2502278,essv2495796 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11831,NA11894,NA11993,NA11994,NA12003,NA12043,NA12144,NA12249,NA12414,NA12716,NA12751,NA12878,NA12892,NA18511,NA18517,NA18545,NA18547,NA18552,NA18555,NA18558,NA18562,NA18570,NA18572,NA18576,NA18593,NA18940,NA18947,NA18951,NA18965,NA19129,NA19257 esv272362 21 15383631 15383838 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579372,essv2579686 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv521517 21 15396029 15404514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698134 S 2026 0 1 "" esv2449164 21 15427581 15428764 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285996 S 1 1 0 "" NA18507 nsv913413 21 15459599 15543730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557589 S 6533 1 0 "" MS22764 esv32910 21 15481528 15482292 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95956 S 51 1 0 "" 22127 esv33078 21 15488368 15489600 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95140 S 51 1 0 "" 21721 esv32772 21 15509361 15514034 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101524,essv98857,essv101179,essv93872,essv96809,essv101052,essv95148,essv98322,essv94835,essv93992,essv94386,essv95392,essv97351,essv101725,essv94568,essv92894,essv92670,essv93616,essv96103,essv97165,essv98592,essv100052,essv93426,essv93222,essv99622,essv92642,essv97995,essv99342,essv97618,essv100590,essv100397,essv98514,essv96296,essv94182 M 51 0 34 "" 21603,21606,21618,21634,21659,21693,21721,21772,21791,21802,21808,21872,21879,21909,21932,21939,21944,21972,22007,22075,22085,22086,22128,22170,22217,22233,22259,22275,22278,22298,22300,22352,22371,22394 nsv819831 21 15510143 15513784 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419564 S 2 1 0 "" AK1 dgv713n67 21 15510225 15511920 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828822,nsv828824 M 31 0 17 "" AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18537,NA18542,NA18547,NA18564,NA18570,NA18947,NA18949,NA18969,NA18972 nsv820919 21 15510225 15511920 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420122 S 1 0 1 "" NA10851 nsv828823 21 15510225 15513034 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422315,nssv1436279,nssv1427191,nssv1424689,nssv1438540 M 31 0 5 "" AK6,NA18566,NA18582,NA18951,NA18997 dgv99e180 21 15510249 15513323 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006098,esv992011 M 3 0 1 "" HuRef nsv498975 21 15510249 15513326 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585836 S 9 0 1 "" esv1711394 21 15510251 15513325 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199143 S 2 0 1 "" HuRef esv26798 21 15510264 15513034 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19380,esv16351 M 451 35 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514948 21 15510300 15511779 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628355 S 1414 0 1 "" nsv3458 21 15519746 15526601 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7704 S 9 0 1 "" NA12156 nsv442490 21 15546277 15550528 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv27464 21 15600003 15600470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12053 S 451 0 1 "" NA18502 nsv3459 21 15615235 15650441 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4551 S 9 1 0 "" NA12878 nsv834049 21 15639292 15827171 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455492 S 95 0 1 "" nsv3460 21 15663865 15682590 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7705 S 9 0 1 "" NA12156 nsv524022 21 15787817 15796612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699884 S 2026 0 1 "" nsv518934 21 15825896 15825985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694290 S 2026 0 1 "" nsv519258 21 15825896 15826379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696752 S 2026 0 1 "" dgv1356e1 21 15834517 16018549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1397,esv216 M 271 0 0 "" NA19007 nsv528246 21 15857759 15901910 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704810 S 2026 0 1 "" nsv459099 21 15878737 16066882 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535926 S 1557 1 0 USP25 1780854261_A nsv817914 21 15922491 15932650 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417956 S 112 1 0 "" NA18852 nsv820026 21 15937812 15938726 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419119 S 2 1 0 "" AK1 nsv507912 21 15973637 15979637 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620689,nssv619275 M 4 2 0 "" NA10860,NA15510 esv275197 21 16045726 16052229 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585789,essv2585544 M 1250 1 1 USP25 nsv834050 21 16067961 16270822 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455493 S 95 1 0 USP25 nsv3461 21 16087209 16118275 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10307 S 9 1 0 USP25 NA18956 nsv3462 21 16125466 16158278 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5893 S 9 1 0 USP25 NA19129 nsv3463 21 16248990 16265329 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7707 S 9 0 1 "" NA12156 nsv913414 21 16305656 16381378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583807 S 6533 0 1 LINC00478 IS36656 nsv521877 21 16313460 16325248 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694648 S 2026 1 0 "" nsv913415 21 16322787 16374147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578691 S 6533 0 1 LINC00478 IS34856 nsv527854 21 16322787 16381378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704352 S 2026 0 1 LINC00478 esv1007658 21 16481547 16481549 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568620 S 3 1 0 LINC00478 HuRef nsv834051 21 16486714 16643635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455495,nssv1455494 M 95 2 0 LINC00478 esv32643 21 16582399 16583116 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98897 S 51 1 0 LINC00478 21606 nsv521068 21 16586547 16589650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681221,nssv694035,nssv702231 M 2026 0 3 LINC00478 nsv913416 21 16650095 16785753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570155 S 6533 0 1 LINC00478 IS31816 nsv527885 21 16680713 16681051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704387 S 2026 0 1 LINC00478 nsv913417 21 16684211 16699698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514903 S 6533 0 1 LINC00478 SP56094 nsv913418 21 16689644 16708090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502999,nssv1502482 M 6533 0 2 LINC00478 SP51206,SP51473 esv1481086 21 16692462 16692462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806449 S 2 1 0 LINC00478 HuRef nsv828825 21 16692873 16694421 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427970 S 31 0 1 LINC00478 AK8 nsv817915 21 16693940 16696927 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417268 S 112 0 1 LINC00478 NA18593 dgv4681n71 21 16696927 16748131 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913419,nsv913420 M 6533 0 2 LINC00478 IS36981,MS15199 nsv470880 21 16699698 16741982 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544757,nssv544756 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00478 HGDP00864,HGDP00876 dgv4682n71 21 16708090 16748131 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913421,nsv913422 M 6533 0 2 LINC00478 IS30432,IS34856 nsv459101 21 16716303 16740907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535927 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00478 HGDP00925 esv9313 21 16858851 16858953 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31754 S 1 1 0 LINC00478 SJK esv988032 21 16858926 16858926 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566567 S 3 1 0 LINC00478 HuRef esv1459678 21 16858927 16858927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657224 S 2 1 0 LINC00478 HuRef nsv187426 21 16858928 16858928 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206004 M 24 LINC00478 esv2525221 21 16865145 16867202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215884 S 1 0 1 LINC00478 NA18507 esv2219573 21 16865337 16866656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676616 S 1 0 1 LINC00478 NA18507 esv26847 21 16865480 16866440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18190 S 451 0 1 LINC00478 NA19114 esv1991937 21 16871346 16871764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914023 S 1 0 1 LINC00478 NA18507 nsv510494 21 16872400 16878400 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622319 S 4 0 1 LINC00478 NA10860 nsv834052 21 16889256 17064095 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455498,nssv1455496,nssv1455497 M 95 1 2 LINC00478 dgv4683n71 21 16945076 16979504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913423,nsv913424 M 6533 2 0 "" MS15859,SP54384 nsv913425 21 16956916 16979504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505492 S 6533 1 0 "" SP53572 nsv828826 21 16960023 16960666 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436280 S 31 0 1 "" NA18566 nsv459102 21 16961016 16972413 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535928 S 1557 1 0 "" 1780854017_A nsv520583 21 16979504 16988078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697503 S 2026 0 1 "" nsv3464 21 17000129 17044960 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7708 S 9 0 1 "" NA12156 esv1010914 21 17073524 17076641 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563568 S 3 1 0 "" HuRef esv2751924 21 17091368 17463400 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981784,essv6981783,essv6989261,essv6989514,essv6989515 M 771 0 1 "" BEC_468 nsv527753 21 17163946 17292877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704240 S 2026 0 1 "" nsv525388 21 17214168 17215449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701510 S 2026 0 1 "" nsv913426 21 17217065 17262933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550691 S 6533 0 1 "" MS18540 nsv913427 21 17217065 17295211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591116 S 6533 0 1 "" IS38637 nsv187028 21 17219294 17219344 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205606 M 24 "" esv2634944 21 17259373 17261031 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272016 S 1 0 1 "" NA18507 esv2480912 21 17264213 17268180 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234806 S 1 0 1 "" NA18507 esv1758981 21 17265300 17265300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879517 S 2 1 0 "" HuRef nsv834053 21 17291385 17422800 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455499 S 95 1 0 "" nsv913428 21 17295211 17347604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515150 S 6533 0 1 "" SP56126 nsv519272 21 17354907 17355249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655152,nssv663485 M 2026 0 2 "" esv1197000 21 17379379 17379449 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018796 S 2 0 1 "" HuRef esv990887 21 17379379 17379451 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571376 S 3 0 1 "" HuRef nsv834054 21 17457554 17628890 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455501,nssv1455500 M 95 0 2 "" nsv507913 21 17478741 17484741 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617950,nssv620690,nssv623309 M 4 3 0 "" CHM,NA15510,NA18994 nsv3466 21 17519645 17537717 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7709 S 9 1 0 "" NA12156 nsv509788 21 17528107 17544478 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621133 S 4 1 0 "" NA15510 esv1010313 21 17528889 17529062 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563931 S 3 1 0 "" HuRef esv1426963 21 17529067 17529067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720859 S 2 1 0 "" HuRef nsv511630 21 17532350 17545940 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626263 S 1 0 1 "" 1 nsv512635 21 17534141 17535692 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625250 S 1 0 1 "" 1 nsv828827 21 17534182 17540856 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432585 S 31 1 0 "" AK20 esv7496 21 17534200 17535517 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29937 S 1 0 1 "" SJK esv28767 21 17534241 17535236 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14229 S 451 0 1 "" NA12239 nsv513567 21 17585895 17587250 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626819 S 1 1 0 "" 1 nsv521976 21 17642038 17646022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694743 S 2026 0 1 "" esv1747918 21 17694365 17694365 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973904 S 2 1 0 "" HuRef dgv4684n71 21 17698152 17823840 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913429,nsv913431 M 6533 2 0 C21orf37,CXADR SP56085,SP56370 nsv913430 21 17713805 17785838 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565736 S 6533 1 0 C21orf37 IS30515 esv1001642 21 17747676 17747737 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578687 S 3 0 1 "" HuRef esv1495473 21 17747683 17747745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695597 S 2 0 1 "" HuRef esv268937 21 17754447 17754795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504025 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv507914 21 17762163 17768163 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617951,nssv620691,nssv623310,nssv619276 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv187304 21 17768808 17778329 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205882 M 24 "" esv994798 21 17859731 17861855 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586731 S 3 0 1 CXADR HuRef nsv834055 21 17939266 18180561 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455502 S 95 1 0 C21orf91,C21orf91-OT1,CHODL-AS1 esv23884 21 17965810 17969111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13105 S 451 0 1 "" NA18916 nsv516831 21 17966106 17968624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656185,nssv672495,nssv687725,nssv654290,nssv671716 M 2026 0 5 "" esv1953110 21 17990578 17991047 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4824903 S 1 0 1 "" NA18507 nsv3467 21 17994559 17998812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10308 S 9 1 0 "" NA18956 nsv3468 21 18016304 18035171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4552,nssv7710 M 9 2 0 "" NA12156,NA12878 nsv509789 21 18022378 18026796 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623833,nssv619854,nssv621134 M 4 3 0 "" NA10860,NA15510,NA18994 esv990010 21 18024372 18025475 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565750 S 3 1 0 "" HuRef esv1101303 21 18024474 18024474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125970 S 2 1 0 "" HuRef nsv522920 21 18126666 18148695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698581 S 2026 0 1 CHODL-AS1 esv999379 21 18197304 18197304 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580717 S 3 1 0 "" HuRef esv26906 21 18247577 18251070 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14834,esv12460,esv17383 M 451 0 16 CHODL NA07037,NA07045,NA11931,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18508,NA18517,NA18907,NA18909 esv996017 21 18248286 18251445 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565256 S 3 0 1 CHODL HuRef esv1372324 21 18248710 18251219 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181198 S 2 0 1 CHODL HuRef dgv100e180 21 18248790 18250404 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995681,esv995089 M 3 0 1 CHODL HuRef nsv828828 21 18249116 18250364 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431763,nssv1431519,nssv1439401,nssv1440771,nssv1436281,nssv1426313,nssv1429522,nssv1430278,nssv1423495,nssv1427192,nssv1423064,nssv1437165,nssv1435593,nssv1423893,nssv1431040,nssv1432586,nssv1425448,nssv1438542,nssv1427971,nssv1437876 M 31 0 20 CHODL AK12,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18542,NA18547,NA18552,NA18564,NA18566,NA18942,NA18947,NA18949,NA18951,NA18968,NA18973,NA18999 esv2421551 21 18249182 18250201 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5102030,essv5096737,essv5116502,essv5121174,essv5150814,essv5009752,essv5142979,essv5007625,essv5012041,essv5122213,essv5027331,essv5128352,essv5120061,essv5123726,essv5155583,essv5104447,essv5151728,essv5003525,essv5089294,essv5075741,essv5075204,essv5060390,essv5104024,essv5090014,essv5135841,essv5154801,essv5032576,essv5016679,essv5159807,essv5092192,essv5046261,essv5037141,essv5135245,essv5017541,essv5035039,essv5135668,essv5013317,essv5083254,essv5108898,essv5102728,essv5135698,essv5081268,essv5011048,essv5126205,essv5008915,essv5038495,essv5111421,essv5014989,essv5065817,essv5153062,essv5065506,essv5031225,essv5002767,essv5064813,essv5096455,essv5031874,essv5061027,essv5111142,essv5102009,essv5002356,essv5072189,essv5101567,essv5088946,essv5080213,essv5023493,essv5021743,essv5082277,essv5054794,essv5051181,essv5135885,essv5069183,essv5117875,essv5030176,essv5132162,essv5113550,essv5047353,essv5105045,essv5132117,essv5088493,essv5151131,essv5064531,essv5110344,essv5024663,essv5114768,essv5036899,essv5097562,essv5082942,essv5084465,essv5093752,essv5108044,essv5131520,essv5049729,essv5084363,essv5067034,essv5021896,essv5035507,essv5157224,essv5007478,essv5045352,essv5010954,essv5077617,essv5050651,essv5156341,essv5002432,essv5026099,essv5039333,essv5096968,essv5053880,essv5053225,essv5013474,essv5122325,essv5065617,essv5135908,essv5155405,essv5025023,essv5105973,essv5043766,essv5029689,essv5041554,essv5153831,essv5048237,essv5074367,essv5124451,essv5050803,essv5149949,essv5087881,essv5072728,essv5061702,essv5067961,essv5034517,essv5083299,essv5060107,essv5052116,essv5023996,essv5062340,essv5011750,essv5119489,essv5148209,essv5080398,essv5100446,essv5101199,essv5136768,essv5155814,essv5006364,essv5019505,essv5144917,essv5049755,essv5056465,essv5048483,essv5111693,essv5101473,essv5068733,essv5149832,essv5090588,essv5102745,essv5139267,essv5045609,essv5142688,essv5106085,essv5149031,essv5079324,essv5116437,essv5057985,essv5161078,essv5013577,essv5039208,essv5106698,essv5023056,essv5150686,essv5083750,essv5020546,essv5077580,essv5158100,essv5028325,essv5138853,essv5040800,essv5080848,essv5029515,essv5081611,essv5132660,essv5132770,essv5096306,essv5078223,essv5077144,essv5149078,essv5100467,essv5133918,essv5012753,essv5011357,essv5071142,essv5130841,essv5130861,essv5156291,essv5032649,essv5076224,essv5142765,essv5097268,essv5124714,essv5122901,essv5057407,essv5023109,essv5019054,essv5041465,essv5019153,essv5108951,essv5039175,essv5043575,essv5119237,essv5066893,essv5008668,essv5139705,essv5050282,essv5119141,essv5081250,essv5061420,essv5078174,essv5158026,essv5007853,essv5008949,essv5046232,essv5051099,essv5108487,essv5074728,essv5124185,essv5044377,essv5124018,essv5092887,essv5110159,essv5160543,essv5113093,essv5152672,essv5135536,essv5033223,essv5133857,essv5108136,essv5025058,essv5103528,essv5022689,essv5063432,essv5111104,essv5159286,essv5150501,essv5035232,essv5119201,essv5161101,essv5128429,essv5076186,essv5143758,essv5152385,essv5035847,essv5095521,essv5067117,essv5065404,essv5083673,essv5041664,essv5043787,essv5137441,essv5027533,essv5070885,essv5108919,essv5110615,essv5002811,essv5034489,essv5037392,essv5079804,essv5078307,essv5115962,essv5056663,essv5141188,essv5029553,essv5039573,essv5107452,essv5096567,essv5085967,essv5137113,essv5040805,essv5028411,essv5031199,essv5090853,essv5128650,essv5149839,essv5075634,essv5160479,essv5019773,essv5073419,essv5009371,essv5003326,essv5063478,essv5012990,essv5148980,essv5083898,essv5079618,essv5073653,essv5066032,essv5075466,essv5119138,essv5154043,essv5135722,essv5057286,essv5156621,essv5025420,essv5053438,essv5071351,essv5135102,essv5051234,essv5078077,essv5112165,essv5134929,essv5095269,essv5075124,essv5105202,essv5045873,essv5135330,essv5074000,essv5032447,essv5003771,essv5125419,essv5124340,essv5124794,essv5110562,essv5128236,essv5132098,essv5094586,essv5142893,essv5007500,essv5074262,essv5040508,essv5059929,essv5119163,essv5034045,essv5025836,essv5056248,essv5118236,essv5077597,essv5158567,essv5138909,essv5081564,essv5016929,essv5059890,essv5141649,essv5076757,essv5021970,essv5143574,essv5093799,essv5116504,essv5021864,essv5103208,essv5109067,essv5158145,essv5108427,essv5111177,essv5086656,essv5128222,essv5146839,essv5109553,essv5140508,essv5090413,essv5063751,essv5057585,essv5087749,essv5002314,essv5107335,essv5010752,essv5097260,essv5113387,essv5034719,essv5086458,essv5047371,essv5026529,essv5146448,essv5145660,essv5146141,essv5106101,essv5114328,essv5126402,essv5080526,essv5100564,essv5086660,essv5084611,essv5034392,essv5014242,essv5139299,essv5060661,essv5101979 M 1184 0 384 CHODL NA06984,NA06986,NA06997,NA07022,NA07037,NA07045,NA07051,NA07055,NA07346,NA07347,NA07349,NA07435,NA10835,NA10839,NA10840,NA10846,NA10850,NA10853,NA10855,NA10859,NA10863,NA10864,NA10865,NA11831,NA11832,NA11843,NA11881,NA11882,NA11891,NA11893,NA11917,NA11931,NA11992,NA12005,NA12006,NA12044,NA12057,NA12144,NA12154,NA12234,NA12248,NA12272,NA12273,NA12275,NA12282,NA12287,NA12341,NA12348,NA12375,NA12376,NA12399,NA12413,NA12489,NA12718,NA12749,NA12750,NA12751,NA12761,NA12766,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12813,NA12815,NA12817,NA12828,NA12832,NA12843,NA12864,NA12865,NA12873,NA12874,NA12891,NA17962,NA17966,NA17970,NA17972,NA17975,NA17979,NA17980,NA17982,NA17986,NA17988,NA17990,NA17998,NA18101,NA18102,NA18107,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18132,NA18133,NA18134,NA18135,NA18138,NA18139,NA18140,NA18141,NA18144,NA18146,NA18149,NA18150,NA18152,NA18153,NA18157,NA18159,NA18160,NA18162,NA18506,NA18508,NA18515,NA18517,NA18519,NA18542,NA18543,NA18548,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18579,NA18594,NA18599,NA18608,NA18609,NA18610,NA18614,NA18618,NA18620,NA18621,NA18624,NA18627,NA18633,NA18634,NA18635,NA18636,NA18638,NA18640,NA18641,NA18642,NA18643,NA18645,NA18670,NA18682,NA18689,NA18694,NA18704,NA18745,NA18748,NA18857,NA18870,NA18909,NA18911,NA18923,NA18925,NA18934,NA18935,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18955,NA18957,NA18962,NA18963,NA18965,NA18968,NA18970,NA18971,NA18973,NA18974,NA18975,NA18979,NA18980,NA18987,NA18990,NA18991,NA18993,NA18998,NA18999,NA19001,NA19002,NA19009,NA19010,NA19027,NA19054,NA19056,NA19057,NA19059,NA19060,NA19062,NA19063,NA19064,NA19067,NA19072,NA19075,NA19076,NA19079,NA19083,NA19085,NA19086,NA19096,NA19097,NA19113,NA19130,NA19132,NA19137,NA19139,NA19143,NA19146,NA19148,NA19152,NA19171,NA19178,NA19204,NA19209,NA19311,NA19382,NA19399,NA19403,NA19435,NA19439,NA19443,NA19625,NA19651,NA19652,NA19653,NA19657,NA19659,NA19678,NA19680,NA19682,NA19716,NA19718,NA19723,NA19724,NA19746,NA19749,NA19750,NA19751,NA19759,NA19760,NA19762,NA19763,NA19773,NA19776,NA19778,NA19782,NA19794,NA19796,NA19818,NA19835,NA19836,NA19901,NA19902,NA19917,NA20279,NA20281,NA20287,NA20288,NA20289,NA20317,NA20332,NA20333,NA20336,NA20341,NA20348,NA20505,NA20510,NA20512,NA20516,NA20517,NA20519,NA20520,NA20529,NA20535,NA20541,NA20544,NA20581,NA20753,NA20757,NA20760,NA20761,NA20766,NA20769,NA20771,NA20774,NA20778,NA20783,NA20787,NA20792,NA20796,NA20800,NA20801,NA20807,NA20808,NA20812,NA20815,NA20816,NA20826,NA20828,NA20845,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20861,NA20862,NA20870,NA20871,NA20874,NA20875,NA20876,NA20877,NA20882,NA20884,NA20887,NA20890,NA20895,NA20897,NA20898,NA20900,NA20901,NA20902,NA20903,NA20908,NA21088,NA21089,NA21090,NA21091,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21105,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21115,NA21116,NA21119,NA21123,NA21137,NA21141,NA21142,NA21143,NA21144,NA21308,NA21311,NA21312,NA21313,NA21314,NA21379,NA21382,NA21408,NA21418,NA21436,NA21521,NA21686 nsv517400 21 18269051 18272979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686052,nssv651908,nssv660060 M 2026 0 3 CHODL nsv459104 21 18279250 18303003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535929 S 1557 0 1 CHODL NINDS_99 esv2751925 21 18329683 21294600 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984061,essv6984062,essv6984063,essv6984064,essv6989908,essv6989907,essv6989410 M 771 0 1 CHODL,LINC00320,NCAM2,TMPRSS15 BEC_765 esv2471706 21 18330502 18332035 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314640 S 1 0 1 CHODL NA18507 nsv3469 21 18353401 18376756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1619 S 9 1 0 CHODL NA19240 esv28281 21 18353906 18357615 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9884 S 451 0 1 CHODL NA07045 nsv913432 21 18355365 18468485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521573 S 6533 0 1 CHODL SP52440 nsv509791 21 18436516 18458122 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619855 S 4 1 0 CHODL NA10860 esv1001519 21 18438368 18439377 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564024 S 3 1 0 CHODL HuRef esv267430 21 18439147 18439232 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515372,essv2518593,essv2515068,essv2517864 M 157 4 0 Samples from several populations that are part of the HapMap project. CHODL NA12249,NA12287,NA12812,NA12878 esv273037 21 18439147 18439232 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581444 S 7 1 0 Samples from several populations that are part of the HapMap project. CHODL NA12878 nsv510495 21 18455122 18461122 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621503 S 4 0 1 CHODL NA15510 esv1006254 21 18468320 18468320 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579361 S 3 1 0 CHODL HuRef esv1422720 21 18468340 18468340 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306990 S 2 1 0 CHODL HuRef nsv459105 21 18532034 18576669 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535930 S 1557 0 1 CHODL,TMPRSS15 1780862432_A esv1632755 21 18545709 18545709 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230546 S 2 1 0 CHODL HuRef nsv819544 21 18561373 18563952 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419445 S 2 1 0 CHODL,TMPRSS15 AK1 nsv187307 21 18599811 18599811 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205885 M 24 TMPRSS15 nsv518906 21 18602200 18607276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696364 S 2026 0 1 TMPRSS15 esv1003839 21 18609596 18609770 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578772 S 3 0 1 TMPRSS15 HuRef esv1470738 21 18609629 18609804 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120946 S 2 0 1 TMPRSS15 HuRef nsv522137 21 18611032 18612661 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694911 S 2026 0 1 TMPRSS15 nsv913433 21 18611032 18634074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551834 S 6533 0 1 TMPRSS15 MS18978 nsv913434 21 18611032 18649750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578693 S 6533 0 1 TMPRSS15 IS34856 nsv3470 21 18612249 18645451 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5894 S 9 1 0 TMPRSS15 NA19129 nsv522760 21 18640775 18641297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698399 S 2026 0 1 TMPRSS15 nsv459106 21 18675377 18705763 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535931 S 1557 0 1 TMPRSS15 1787431198_A nsv459109 21 18701945 18728352 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535933 S 1557 0 1 "" NINDS_186 nsv913435 21 18715406 18820035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565827 S 6533 0 1 "" IS30522 esv4584 21 18719869 18722041 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27025 S 1 0 0 Single Asian sample YH "" YH esv2422442 21 18779734 18898359 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161463 S 181 1 0 "" ND05536 esv269598 21 18827064 18827149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513566 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv828829 21 18835660 18836179 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430279 S 31 0 1 "" AK14 esv9185 21 18835925 18836260 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31626 S 1 0 1 "" SJK esv996881 21 18881320 18881369 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570620 S 3 0 1 "" HuRef nsv510789 21 18899245 18931563 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619013 S 4 0 1 "" NA10860 nsv510496 21 18922869 18928869 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618459,nssv621504,nssv624251 M 4 0 3 "" CHM,NA15510,NA18994 nsv3471 21 18923692 18953705 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5895 S 9 1 0 "" NA19129 nsv828830 21 18969231 18970668 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426314 S 31 1 0 "" AK4 dgv4685n71 21 18973225 19011975 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913437,nsv913438,nsv913436 M 6533 29 0 "" IS33129,IS34393,IS35011,IS38382,IS38583,IS38627,IS39331,IS39642,IS39971,IS40831,MS11616,MS11666,MS12493,MS14719,MS14918,MS15822,MS16056,MS16124,MS16337,MS18694,MS20269,MS21958,MS24865,MS25338,MS25699,SP53964,SP55160,SP56096,SP81437 dgv524n27 21 18976313 19005090 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459113,nsv459110,nsv459114,nsv459111 M 1557 4 0 "" HGDP00641,HGDP00856,HGDP00873,HGDP01074 nsv517044 21 18976313 19005090 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668616,nssv682177,nssv685071,nssv657323,nssv662656,nssv684973,nssv691191,nssv680323,nssv659666,nssv693036,nssv652249,nssv691697,nssv685270,nssv676113,nssv662231,nssv683437,nssv653681,nssv667546,nssv677305,nssv656730,nssv673269,nssv670821,nssv690915 M 2026 23 0 "" dgv525n27 21 18976313 19012950 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459115,nsv459112 M 1557 2 0 "" HGDP01059,NINDS_271 esv2421672 21 18977958 19002805 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084400,essv5021506,essv5077670,essv5151525,essv5131062,essv5133070,essv5020166,essv5031972,essv5122834,essv5152391,essv5011315,essv5064213,essv5082539,essv5134741 M 1184 14 0 "" NA06995,NA07435,NA12815,NA19660,NA19662,NA19722,NA19795,NA20301,NA20340,NA20502,NA20756,NA20813,NA20903,NA20907 esv1948878 21 19045569 19046247 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511458 S 1 0 1 "" NA18507 esv5397 21 19045710 19046163 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27838 S 1 0 1 Single Asian sample YH "" YH nsv913439 21 19046840 19121841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564888 S 6533 0 1 "" IS30311 nsv459116 21 19049702 19073014 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535940 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00920 esv2211602 21 19153207 19153645 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878761 S 1 0 1 "" NA18507 dgv4686n71 21 19207472 19276728 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913441,nsv913443,nsv913440,nsv913442 M 6533 0 8 "" IS31179,IS38235,IS39716,IS39718,IS41113,MS12947,MS20872,MS23290 nsv834056 21 19211400 19368540 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455503 S 95 0 1 "" nsv913444 21 19248597 19274896 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512750 S 6533 1 0 "" SP55610 esv2233083 21 19282014 19282344 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500552 S 1 0 1 "" NA18507 esv1240986 21 19282104 19282204 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933984 S 2 0 1 "" HuRef nsv913445 21 19287152 19329426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532698 S 6533 0 1 "" MS10802 esv2564754 21 19301319 19302899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168092 S 1 0 1 "" NA18507 esv25920 21 19315368 19316314 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20668 S 451 3 0 "" NA12239,NA18858,NA19240 nsv834057 21 19354493 19530031 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455504 S 95 0 1 "" nsv828832 21 19358486 19359876 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426315 S 31 1 0 "" AK4 nsv3472 21 19391685 19417850 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4553 S 9 1 0 "" NA12878 esv271256 21 19410392 19410730 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501122,essv2505985,essv2501066,essv2493958,essv2510456,essv2512004,essv2498161 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18523,NA18856,NA18871,NA19172,NA19238,NA19240 esv274541 21 19410404 19410700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580330 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv913446 21 19432841 19470131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514476 S 6533 0 1 "" SP56004 nsv507915 21 19497193 19503193 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619277 S 4 1 0 "" NA10860 nsv913447 21 19539895 19652098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566288 S 6533 0 1 "" IS30635 nsv828833 21 19553452 19569941 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431531 S 31 0 1 "" NA18947 dgv1357e1 21 19561892 19565214 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1230,essv603 M 271 0 0 "" NA18947 nsv913448 21 19598516 19652098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588049 S 6533 0 1 "" IS38148 nsv913449 21 19598516 19712086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578694 S 6533 0 1 "" IS34856 nsv913450 21 19598516 19816140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581093 S 6533 0 1 "" IS35498 esv268026 21 19598765 19598850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516448 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv470881 21 19613525 19712086 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544760,nssv544759,nssv544758 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864,HGDP00875,HGDP00876 nsv913451 21 19625072 19676333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513311 S 6533 0 1 "" SP55729 dgv1358e1 21 19626353 19677375 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6065,esv1387 M 271 0 0 "" NA18603 nsv459117 21 19632507 19693752 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535941 S 1557 0 1 "" 1798860113_A nsv913452 21 19638152 19726151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566481 S 6533 0 1 "" IS30742 nsv513568 21 19639915 19640303 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626820 S 1 1 0 "" 1 esv1258528 21 19639947 19639947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029198 S 2 1 0 "" HuRef nsv913453 21 19644504 19906230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572960 S 6533 0 1 "" IS33196 nsv9854 21 19656328 19668153 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28688 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv4687n71 21 19729806 19816140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913455,nsv913454 M 6533 0 2 "" IS33533,MS15199 nsv913456 21 19729806 20098201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580153 S 6533 0 1 "" IS35229 nsv3473 21 19734357 19773065 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5896 S 9 0 1 "" NA19129 nsv913457 21 19744931 19846416 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601135 S 6533 0 1 "" IS41971 nsv913458 21 19756432 19816140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532055,nssv1537945 M 6533 0 2 "" MS10699,MS13426 esv2590766 21 19758118 19765755 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352222 S 1 0 1 "" NA18507 esv2132788 21 19758624 19765389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876103 S 1 0 1 "" NA18507 esv26415 21 19758733 19766154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11142 S 451 0 10 "" NA18505,NA18508,NA18858,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190 nsv498976 21 19758801 19765198 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585837 S 9 0 1 "" nsv436339 21 19758856 19765477 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465750 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv514949 21 19761364 19763386 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628356 S 1414 0 1 "" dgv526n27 21 19769652 19814361 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459118,nsv459120 M 1557 0 2 "" 1780854293_A,1798860565_A nsv913459 21 19786452 19839646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546250 S 6533 0 1 "" MS17114 dgv4688n71 21 19841080 19956963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913461,nsv913460 M 6533 0 4 "" IS36219,MS12615,MS17128,MS17902 nsv459121 21 19843219 19863784 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535945 S 1557 0 1 "" 1780862194_A dgv527n27 21 19883678 19920515 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459122,nsv459123 M 1557 0 2 "" HGDP00470,HGDP01094 nsv470884 21 19883678 19940825 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544761 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00475 nsv524831 21 19890542 19919785 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700832 S 2026 1 0 "" nsv913462 21 19906230 20272611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548964 S 6533 1 0 "" MS17958 nsv817916 21 19919785 19947130 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416898 S 112 1 0 "" NA19239 dgv4689n71 21 19919785 19986006 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913464,nsv913463 M 6533 0 2 "" IS37974,MS15704 nsv526430 21 19934102 20303341 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702733 S 2026 1 0 "" nsv913465 21 19945837 19990054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582384 S 6533 0 1 "" IS35911 nsv459124 21 19965043 19990054 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535948 S 1557 0 1 "" NINDS_142 nsv913466 21 19966218 19999393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583592 S 6533 0 1 "" IS36533 nsv913467 21 19966218 20050184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579652 S 6533 0 1 "" IS35145 nsv3474 21 19975756 20007076 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11042 S 9 1 0 "" NA15510 nsv470885 21 20020072 20106313 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544762 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 esv1605514 21 20067380 20067432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922635 S 2 0 1 "" HuRef esv1791199 21 20067473 20067545 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675670 S 2 0 1 "" HuRef dgv714n67 21 20121242 20122130 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828834,nsv828835 M 31 0 2 "" NA18949,NA18999 nsv817918 21 20121403 20122483 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417388 S 112 0 1 "" NA18949 nsv459125 21 20122483 20170482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535949 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00187 nsv913468 21 20132419 20257959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534180 S 6533 0 1 "" MS11467 nsv913469 21 20134103 20188684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581094 S 6533 0 1 "" IS35498 esv22937 21 20134352 20135421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15001 S 451 0 3 "" NA18508,NA19114,NA19129 dgv4690n71 21 20137379 20235372 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913471,nsv913470,nsv913472 M 6533 0 8 "" IS30490,IS30925,IS31044,IS31137,IS31359,IS31651,IS39718,MS15199 nsv527855 21 20153174 20200988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704353 S 2026 0 1 "" nsv519310 21 20155124 20170482 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684336,nssv655560,nssv655332,nssv689734,nssv691698 M 2026 5 0 "" nsv522650 21 20155124 20173884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706050 S 2026 0 1 "" nsv470886 21 20162846 20227640 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544763 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 esv272501 21 20178497 20178826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584120,essv2583415 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv2477498 21 20185618 20191100 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214042 S 1 0 1 "" NA18507 nsv913473 21 20191911 20261725 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524882 S 6533 1 0 "" SP55352 nsv515595 21 20224230 20261725 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657209,nssv691914,nssv679543,nssv682945,nssv692062,nssv704732,nssv664039,nssv690185,nssv674124,nssv672003,nssv659052,nssv682626,nssv692920,nssv689675,nssv685910 M 2026 3 12 "" esv272921 21 20246320 20246448 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580109,essv2580050 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv269539 21 20246378 20246706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558225,essv2546592,essv2521079,essv2525956,essv2536401,essv2568084,essv2545288,essv2523217,essv2532025,essv2577276,essv2570741,essv2548584,essv2576669,essv2525340,essv2550459,essv2535260,essv2544258,essv2552321,essv2520290,essv2547256,essv2529197,essv2558347,essv2564524,essv2565518,essv2576206,essv2520047,essv2564186,essv2554889,essv2530572,essv2546753,essv2523622,essv2541135,essv2542869,essv2540534,essv2524312,essv2561186,essv2539720,essv2549360,essv2565915,essv2532924,essv2528693,essv2567587,essv2541490,essv2535683,essv2572380,essv2559100,essv2578142,essv2566338,essv2527437,essv2555897,essv2522322,essv2531287,essv2573703,essv2577128,essv2572153,essv2525606,essv2526846,essv2575361,essv2574860,essv2536174,essv2548699,essv2533190,essv2554721,essv2547833,essv2524972 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11881,NA11894,NA11918,NA11920,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12892,NA18537,NA18545,NA18550,NA18552,NA18555,NA18562,NA18563,NA18564,NA18572,NA18576,NA18579,NA18582,NA18592,NA18608,NA18609,NA18638,NA18940,NA18948,NA18952,NA18956,NA18960,NA18961,NA18964,NA18970,NA18973,NA18980,NA19005,NA19102,NA19138 nsv913474 21 20311104 20419515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570356 S 6533 0 1 "" IS31904 nsv834059 21 20378406 20569736 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455505 S 95 0 1 "" nsv913475 21 20405345 20562349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505368 S 6533 0 1 "" SP53440 nsv819152 21 20430184 20431664 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419274 S 2 0 1 "" AK1 esv2535737 21 20436504 20437454 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376829 S 1 1 0 "" NA18507 nsv187443 21 20436950 20436950 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206021 M 24 "" esv1184937 21 20437001 20437001 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833215 S 2 1 0 "" HuRef nsv913476 21 20515090 20605745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564161 S 6533 0 1 "" IS30171 dgv4691n71 21 20515090 20670572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913477,nsv913478 M 6533 0 2 "" IS35862,IS39718 nsv187066 21 20516103 20517073 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205644 M 24 "" esv5089 21 20520571 20520841 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27530 S 1 0 1 Single Asian sample YH "" YH dgv4692n71 21 20530705 20605745 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913480,nsv913479 M 6533 0 3 "" IS38254,IS41971,MS17697 esv27300 21 20532006 20542687 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17559 S 451 0 1 "" NA18858 esv271861 21 20538823 20542673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514335 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv913481 21 20542782 20644492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593638,nssv1562523 M 6533 0 2 "" IS39464,MS25617 esv22067 21 20543574 20545877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16790 S 451 0 4 "" NA18517,NA18861,NA19099,NA19240 dgv4693n71 21 20556909 20628167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913483,nsv913482 M 6533 0 2 "" IS36728,SP58537 dgv4694n71 21 20574018 20649179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913484,nsv913485 M 6533 0 11 "" IS30432,IS30667,IS31137,IS31205,IS31563,IS31679,IS33196,IS35145,IS35742,IS37226,IS38263 nsv913486 21 20595054 20687064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565828 S 6533 0 1 "" IS30522 nsv913487 21 20619946 20663171 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582385 S 6533 0 1 "" IS35911 nsv470887 21 20628167 20654786 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544764 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 nsv9855 21 20637505 20638493 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25302 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 dgv1359e1 21 20637992 20877335 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12341,esv622,essv11861,essv15831 M 271 0 0 "" NA19138,NA19221,NA19223 esv267650 21 20642821 20643087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511842,essv2493691,essv2505859,essv2495647,essv2499198,essv2499689,essv2502264 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18517,NA18861,NA18916,NA19114,NA19225,NA19257 nsv913488 21 20649179 20687064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541238 S 6533 0 1 "" MS15199 esv6728 21 20656851 20656931 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29169 S 1 1 0 "" SJK nsv459127 21 20684789 20787437 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535950 S 1557 0 1 "" 1780854318_A dgv1360e1 21 20716906 20811712 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9522,essv11054,essv8005 M 271 0 0 "" NA19138,NA19221,NA19223 nsv437844 21 20718706 20755295 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467725 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv436340 21 20720624 20768777 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465751 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv9856 21 20721169 20767739 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28689 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv27884 21 20722285 20767197 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12487 S 451 0 1 "" NA18505 nsv442491 21 20722523 20757493 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv171e55 21 20722676 20801025 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34447,esv35007 M 771 0 2 "" NA19138,NA19221 dgv528n27 21 20723899 20766470 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459131,nsv459128,nsv459129 M 1557 0 3 "" HGDP00620,HGDP00933,HGDP00934 nsv470888 21 20723899 20766470 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544766,nssv544767,nssv544768 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00620,HGDP00933,HGDP00934 nsv517240 21 20723899 20766470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660786,nssv653719,nssv662767,nssv673874,nssv663129 M 2026 0 5 "" nsv817919 21 20723899 20766470 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416989 S 112 0 1 "" NA19138 nsv514950 21 20726080 20752552 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628357 S 1414 0 1 "" nsv913489 21 20728139 20769423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529461 S 6533 1 0 "" SP81543 dgv4695n71 21 20734843 20785306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913493,nsv913490 M 6533 0 2 "" MS15199,MS17114 nsv913491 21 20736495 20912472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574310 S 6533 0 1 "" IS33533 nsv913492 21 20742279 20855418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591778 S 6533 0 1 "" IS39011 nsv437845 21 20755295 20767978 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467726 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv998683 21 20762689 20762689 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579429 S 3 1 0 "" HuRef esv1370315 21 20762693 20762693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958176 S 2 1 0 "" HuRef nsv187191 21 20762733 20762733 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205769 M 24 "" nsv9858 21 20768211 20773785 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27863 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv828836 21 20768927 20770360 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437166 S 31 0 1 "" NA18542 nsv523695 21 20790752 20934272 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699502 S 2026 0 1 "" nsv834060 21 20794721 20907647 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455506 S 95 1 0 "" nsv834061 21 20801914 20976458 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455531,nssv1455534,nssv1455553,nssv1455525,nssv1455541,nssv1455519,nssv1455533,nssv1455532,nssv1455540,nssv1455535,nssv1455536,nssv1455538,nssv1455537,nssv1455539,nssv1455542,nssv1455545,nssv1455544,nssv1455543,nssv1455552,nssv1455546,nssv1455551,nssv1455550,nssv1455547,nssv1455548,nssv1455558,nssv1455554,nssv1455557,nssv1455556,nssv1455555,nssv1455560,nssv1455563,nssv1455559,nssv1455562,nssv1455561,nssv1455517,nssv1455516,nssv1455524,nssv1455518,nssv1455509,nssv1455508,nssv1455514,nssv1455512,nssv1455510,nssv1455507,nssv1455530,nssv1455522,nssv1455527,nssv1455520,nssv1455526,nssv1455515,nssv1455513,nssv1455529,nssv1455549,nssv1455528,nssv1455511,nssv1455521,nssv1455523 M 95 52 5 "" nsv819282 21 20823867 20829611 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419732 S 2 0 1 "" AK1 nsv523447 21 20825348 20825669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699203 S 2026 0 1 "" nsv520620 21 20825348 20827191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697522 S 2026 0 1 "" nsv913494 21 20828763 20855418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592751 S 6533 0 1 "" IS39248 nsv828837 21 20852871 20854646 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426316 S 31 1 0 "" AK4 nsv187455 21 20881307 20882147 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206033 M 24 "" esv2521329 21 20881562 20883930 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348919 S 1 0 1 "" NA18507 esv27331 21 20922059 20926060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9958 S 451 0 2 "" NA18909,NA19225 esv21649 21 20927510 20932536 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18997 S 451 0 2 "" NA18505,NA18858 esv2421376 21 20927716 20932562 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096489,essv5118768,essv5026700,essv5127041,essv5118770,essv5078053,essv5078129,essv5131245,essv5121666,essv5122412,essv5075235,essv5156681,essv5027666,essv5057700,essv5034191,essv5069604,essv5147217,essv5152926,essv5143221,essv5010385,essv5086613,essv5061272,essv5085518,essv5096274,essv5096236,essv5082219,essv5139859,essv5095683,essv5081610,essv5143518,essv5035556,essv5090225,essv5011935,essv5095473,essv5042747,essv5086121,essv5097298,essv5123541,essv5113284,essv5092502,essv5044709,essv5020691,essv5148268,essv5100115,essv5049411,essv5032261,essv5129140,essv5101838,essv5137884,essv5063391,essv5048939,essv5109423,essv5036208,essv5064566,essv5012000,essv5099324,essv5046747,essv5017893,essv5083041,essv5085877,essv5032430 M 1184 0 61 "" NA18505,NA18510,NA18858,NA18860,NA18869,NA18934,NA19031,NA19041,NA19044,NA19101,NA19103,NA19107,NA19122,NA19143,NA19149,NA19151,NA19193,NA19197,NA19201,NA19202,NA19210,NA19211,NA19214,NA19215,NA19221,NA19223,NA19238,NA19316,NA19327,NA19350,NA19399,NA19428,NA19434,NA19436,NA19444,NA19448,NA19472,NA20276,NA20277,NA20342,NA20343,NA20356,NA20357,NA20358,NA21297,NA21316,NA21355,NA21362,NA21400,NA21418,NA21436,NA21441,NA21524,NA21525,NA21582,NA21600,NA21601,NA21616,NA21685,NA21741,NA21768 nsv442786 21 20927716 20932562 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514951 21 20927840 20932240 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628359 S 1414 0 1 "" nsv913495 21 20934272 20983579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541733 S 6533 0 1 "" MS15479 esv2311030 21 20973611 20974070 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937512 S 1 0 1 "" NA18507 esv997122 21 20973797 20973865 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577996 S 3 0 1 "" HuRef nsv821690 21 21064510 21497774 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421328 S 31 0 1 LINC00320,NCAM2 nsv526431 21 21080481 21118944 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702734 S 2026 1 0 LINC00320 nsv913496 21 21122071 21222831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577919 S 6533 0 1 "" IS34599 nsv459132 21 21185462 21243999 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535954 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00041 dgv4696n71 21 21237456 21293037 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913497,nsv913499,nsv913498 M 6533 0 4 NCAM2 IS31373,IS31581,MS15841,SP53041 nsv520445 21 21242747 21243999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697424 S 2026 1 0 "" nsv9859 21 21348175 21350568 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22815 S 31 0 1 Samples from several populations that are part of the HapMap project. NCAM2 NA18572 nsv913500 21 21354989 21399144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584587 S 6533 0 1 NCAM2 IS37065 nsv913501 21 21370692 21439181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561580 S 6533 0 1 NCAM2 MS25101 nsv507916 21 21389018 21395018 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620692,nssv619278,nssv623311 M 4 3 0 NCAM2 NA10860,NA15510,NA18994 esv991118 21 21392028 21392146 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565800 S 3 1 0 NCAM2 HuRef esv1743038 21 21392151 21392151 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105647 S 2 1 0 NCAM2 HuRef nsv913502 21 21429782 21481598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547914 S 6533 0 1 NCAM2 MS17611 nsv913503 21 21430967 21457220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507256,nssv1517774 M 6533 0 2 NCAM2 SP54510,SP57367 nsv828838 21 21480473 21481264 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426317 S 31 1 0 NCAM2 AK4 nsv913504 21 21550171 21656280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595015 S 6533 0 1 NCAM2 IS40067 esv1111053 21 21559217 21559217 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4237840 S 2 1 0 NCAM2 HuRef esv1433890 21 21625768 21625768 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738255 S 2 1 0 NCAM2 HuRef esv259744 21 21705254 21706702 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400033,essv2395277,essv2396547,essv2396278,essv2400737,essv2397695,essv2397008,essv2399287 M 144 0 0 Samples from several populations that are part of the HapMap project. NCAM2 NA07051,NA11918,NA11919,NA12716,NA12717,NA18502,NA18973,NA19102 nsv913505 21 21736180 21797491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551835 S 6533 0 1 NCAM2 MS18978 nsv913506 21 21736180 21833902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551371 S 6533 0 1 NCAM2 MS18847 nsv521484 21 21743514 21750502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698095 S 2026 0 1 NCAM2 nsv913507 21 21757762 21787512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583015 S 6533 0 1 NCAM2 IS36219 nsv820109 21 21760935 21762294 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419245 S 2 1 0 NCAM2 AK1 nsv913508 21 21775563 21790735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513098 S 6533 0 1 NCAM2 SP55683 dgv4697n71 21 21775563 21797491 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913509,nsv913512 M 6533 0 2 NCAM2 SP56119,SP56267 dgv4698n71 21 21775563 21833902 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913511,nsv913510 M 6533 0 2 NCAM2 MS19634,MS24045 nsv470889 21 21787512 21828205 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544769 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCAM2 HGDP00606 dgv4699n71 21 21797491 21839418 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913513,nsv913514 M 6533 0 2 NCAM2 MS15312,MS17114 dgv4700n71 21 21805149 21839418 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913516,nsv913515 M 6533 0 7 NCAM2 IS30597,IS31259,IS34856,IS35572,IS39944,MS21252,SP52723 nsv817920 21 21809131 21828206 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417255 S 112 1 0 NCAM2 NA18577 nsv913517 21 21809131 21839418 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571221 S 6533 1 0 NCAM2 IS32644 nsv459135 21 21812513 21833891 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv535955 S 1557 0 1 NCAM2 NINDS_96 nsv510497 21 21821432 21827432 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622320,nssv621505 M 4 0 2 NCAM2 NA10860,NA15510 esv2462157 21 21832257 21833638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200661 S 1 0 1 NCAM2 NA18507 nsv526114 21 21898416 21899643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702364 S 2026 0 1 "" dgv4701n71 21 21924170 21975417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913518,nsv913533,nsv913522,nsv913523,nsv913525,nsv913526,nsv913527 M 6533 0 8 "" IS31228,IS31373,IS31385,IS39512,IS41889,MS19487,MS21252,MS23531 dgv4702n71 21 21924170 21987747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913519,nsv913534 M 6533 0 2 "" IS35911,MS21258 dgv4703n71 21 21924170 22023683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913520,nsv913529,nsv913524,nsv913528,nsv913530,nsv913536 M 6533 0 7 LINC00317 IS35572,IS36533,IS39450,MS14437,MS18843,MS20947,MS25963 dgv4704n71 21 21929494 21957252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913532,nsv913521 M 6533 0 2 "" MS23290,MS25617 nsv437189 21 21931454 21948099 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467070 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12753 nsv913531 21 21935101 21945284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551372 S 6533 0 1 "" MS18847 nsv913535 21 21935101 22054241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572962 S 6533 0 1 LINC00317 IS33196 nsv828839 21 21941862 21943282 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426318 S 31 1 0 "" AK4 nsv913537 21 21945284 22000210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542737,nssv1584634 M 6533 0 2 "" IS37098,MS15841 nsv913538 21 21988676 22594581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556451 S 6533 1 0 LINC00308,LINC00317 MS22008 esv1209204 21 22002489 22002489 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291436 S 2 1 0 "" HuRef nsv510498 21 22051664 22057664 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622321,nssv624252 M 4 0 2 "" NA10860,NA18994 nsv834062 21 22054086 22199495 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455564 S 95 0 1 "" esv270706 21 22068260 22068458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548274,essv2553981,essv2564439,essv2557224,essv2551911,essv2558798,essv2527268,essv2549445,essv2541841,essv2563810,essv2535640,essv2528024,essv2529819,essv2575733,essv2575265,essv2538621,essv2572700,essv2568671 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12287,NA12751,NA18501,NA18504,NA18516,NA18522,NA18564,NA18592,NA18603,NA18608,NA18907,NA19093,NA19099,NA19102,NA19108,NA19143,NA19147 nsv913539 21 22095402 22123875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507888 S 6533 1 0 "" SP54693 nsv9860 21 22108337 22110201 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27779,nssv26268,nssv25327 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA19173 nsv515775 21 22113405 22123875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664736,nssv686165,nssv681196,nssv665227,nssv686743,nssv685847,nssv661019,nssv683782 M 2026 0 8 "" nsv525158 21 22113405 22130475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701231 S 2026 0 1 "" nsv819310 21 22115759 22125230 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418578 S 2 1 0 "" AK1 nsv525252 21 22130855 22139503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701347 S 2026 0 1 "" dgv251n21 21 22139503 22139774 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525408,nsv519598 M 2026 0 2 "" esv272857 21 22164929 22165253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581848,essv2582406,essv2584202,essv2584562,essv2583546 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv268339 21 22164930 22165253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565696,essv2541057,essv2543807,essv2548529,essv2551969,essv2564753,essv2565262,essv2537475,essv2528616,essv2540201,essv2557475,essv2557091,essv2552573,essv2551884,essv2550019,essv2527293,essv2561392,essv2528883,essv2541932,essv2568849,essv2556231,essv2527756,essv2534176,essv2576978,essv2529541,essv2575231,essv2560524,essv2524156,essv2571375,essv2546067,essv2574195,essv2548878,essv2533222 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA11829,NA11831,NA11992,NA12045,NA12489,NA12751,NA12812,NA12878,NA12891,NA18489,NA18499,NA18501,NA18502,NA18504,NA18511,NA18522,NA18523,NA18579,NA18856,NA18861,NA18871,NA18907,NA18916,NA18970,NA19093,NA19102,NA19116,NA19129,NA19238,NA19239,NA19240 esv987671 21 22180542 22182319 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565479 S 3 1 0 "" HuRef nsv513569 21 22181787 22182053 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626821 S 1 1 0 "" 1 esv1038194 21 22182032 22182032 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810551 S 2 1 0 "" HuRef esv275157 21 22199637 22207019 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585873,essv2585999 M 1250 1 1 "" esv2642424 21 22216678 22218306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179135 S 1 0 1 "" NA18507 esv25800 21 22225795 22240816 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16881 S 451 0 1 "" NA18909 nsv515991 21 22228751 22240786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685461,nssv671231,nssv662536,nssv676936,nssv675941,nssv654673,nssv665616,nssv681533,nssv677578 M 2026 0 9 "" nsv913540 21 22233965 22270758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549364 S 6533 0 1 "" MS18205 nsv913541 21 22319042 22403041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538101 S 6533 0 1 LINC00308 MS13480 dgv4705n71 21 22341242 22507551 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913545,nsv913542,nsv913546 M 6533 0 3 LINC00308 IS31369,IS34599,MS22104 nsv913543 21 22341242 22518619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552878,nssv1591779 M 6533 0 2 LINC00308 IS39011,MS19634 nsv913544 21 22341242 23219493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572963 S 6533 0 1 LINC00308 IS33196 nsv470890 21 22361015 22559383 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544771,nssv544770 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00308 HGDP00864,HGDP00875 dgv4706n71 21 22431016 22518619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913547,nsv913548 M 6533 0 2 "" IS31758,SP54030 dgv1361e1 21 22433789 22596775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1044,essv2413 M 271 0 0 "" NA18951 nsv913549 21 22456331 22528983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598169 S 6533 0 1 "" IS41292 nsv913550 21 22461936 22518619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526179 S 6533 1 0 "" SP57061 nsv913551 21 22461936 22572227 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552145 S 6533 1 0 "" MS19226 esv273985 21 22501405 22501698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581655,essv2582349,essv2583245 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271735 21 22501415 22501704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546253,essv2521052,essv2525866,essv2542554,essv2536696,essv2522745,essv2556514,essv2568415,essv2523381,essv2531913,essv2577340,essv2576857,essv2535274,essv2547603,essv2558350,essv2565283,essv2564032,essv2561962,essv2537342,essv2528300,essv2546899,essv2557130,essv2551735,essv2536969,essv2539214,essv2569731,essv2544944,essv2523755,essv2541368,essv2564905,essv2570208,essv2572339,essv2559233,essv2556457,essv2539405,essv2573235,essv2555432,essv2527730,essv2526773,essv2560724,essv2560806,essv2549917,essv2551278,essv2548733 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11994,NA11995,NA12004,NA12006,NA12043,NA12154,NA12249,NA12717,NA12750,NA12812,NA12828,NA12874,NA12878,NA12891,NA12892,NA18501,NA18504,NA18517,NA18519,NA18520,NA18526,NA18537,NA18545,NA18558,NA18593,NA18609,NA18638,NA18871,NA18912,NA18942,NA18943,NA18952,NA19005,NA19116,NA19137,NA19225,NA19257 nsv3475 21 22526655 22563588 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3070,nssv1620,nssv5897 M 9 3 0 "" NA18555,NA19129,NA19240 dgv1362e1 21 22535203 22596775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2567,essv2150,essv2912,essv6108,essv6445,essv24639,essv23643,essv3332,essv3610 M 271 0 0 "" NA07055,NA10846,NA18573,NA18592,NA18948,NA18969,NA18974,NA18978,NA19007 nsv828840 21 22536562 22537063 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426320 S 31 1 0 "" AK4 dgv1363e1 21 22545897 22586139 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1048,essv1087,essv3636,essv715,essv2707,essv17,essv4350,essv1708 M 271 0 0 "" NA18622,NA18940,NA18944,NA18945,NA18966,NA18968,NA18975,NA18990 esv270763 21 22548042 22548127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514678,essv2517455,essv2518823,essv2515402,essv2514903,essv2516553,essv2515628,essv2516040,essv2514319,essv2519064,essv2518254,essv2513688 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11918,NA12045,NA12249,NA12812,NA12814,NA12815,NA12873,NA12874,NA19141,NA19240 esv273966 21 22548042 22548127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581201 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1009107 21 22548076 22549373 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565747 S 3 1 0 "" HuRef esv1007217 21 22558752 22558818 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580091 S 3 0 1 "" HuRef esv1433379 21 22558778 22558845 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073504 S 2 0 1 "" HuRef nsv3477 21 22563480 22601930 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2345 S 9 0 1 "" NA18555 dgv1364e1 21 22564731 22586139 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3647,essv6803,essv181,essv1803 M 271 0 0 "" NA18594,NA18971,NA18991,NA18994 dgv1365e1 21 22564731 22596775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv961,essv3586,essv4095,essv2374,essv3499,essv755,essv6541,essv7491,essv1539,essv4211,essv5858,essv23738,essv21497,essv927,essv1641 M 271 0 0 "" NA12003,NA12813,NA18529,NA18555,NA18561,NA18609,NA18624,NA18949,NA18961,NA18981,NA18987,NA18995,NA18999,NA19003,NA19012 nsv510499 21 22573039 22579039 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624254 S 4 0 1 "" NA18994 nsv510790 21 22576039 22588643 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617444,nssv620165 M 4 0 2 "" CHM,NA15510 nsv9861 21 22576051 22588718 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25000,nssv25618,nssv25299,nssv27774,nssv22844,nssv25743 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18572,NA18972,NA18975,NA19007 nsv819756 21 22576288 22588190 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418622 S 2 0 1 "" AK1 dgv715n67 21 22576355 22588013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828845,nsv828844,nsv828843,nsv828841 M 31 0 22 "" AK10,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18552,NA18566,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 esv9530 21 22576767 22587873 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31971 S 1 0 1 "" SJK nsv498977 21 22576771 22587875 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585838 S 9 0 1 "" esv24746 21 22576799 22587850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10067 S 451 0 1 "" NA15510 dgv529n27 21 22576805 22583706 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459137,nsv459164,nsv459169,nsv459179,nsv459148,nsv459166,nsv459195,nsv459160,nsv459162,nsv459187,nsv459168,nsv459161,nsv459146,nsv459159,nsv459167,nsv459151,nsv459193,nsv459184,nsv459170,nsv459178,nsv459165,nsv459150,nsv459192,nsv459188,nsv459138,nsv459149,nsv459155,nsv459173,nsv459186,nsv459142,nsv459175,nsv459158,nsv459140,nsv459147,nsv459157,nsv459139,nsv459136,nsv459182,nsv459145,nsv459154,nsv459190,nsv459143,nsv459171,nsv459180,nsv459153,nsv459194,nsv459181,nsv459176,nsv459172,nsv459191,nsv459183,nsv459144,nsv459177,nsv459156,nsv459189 M 1557 0 55 "" 1780854384_A,1782681179_A,HGDP00199,HGDP00515,HGDP00541,HGDP00544,HGDP00546,HGDP00548,HGDP00550,HGDP00551,HGDP00553,HGDP00556,HGDP00565,HGDP00577,HGDP00663,HGDP00748,HGDP00749,HGDP00752,HGDP00756,HGDP00758,HGDP00764,HGDP00765,HGDP00768,HGDP00771,HGDP00780,HGDP00786,HGDP00812,HGDP00814,HGDP00890,HGDP00954,HGDP00976,HGDP01021,HGDP01103,HGDP01104,HGDP01187,HGDP01211,HGDP01214,HGDP01218,HGDP01223,HGDP01242,HGDP01288,HGDP01290,HGDP01297,HGDP01303,HGDP01307,HGDP01310,HGDP01312,HGDP01336,HGDP01338,HGDP01345,HGDP01349,HGDP01353,HGDP01384,NINDS_73,NINDS_82 esv2422041 21 22576805 22586529 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107373,essv5060115,essv5005776,essv5114421,essv5111999,essv5102313,essv5114804,essv5119916,essv5028520,essv5109898,essv5060635,essv5090525,essv5065655,essv5106475,essv5087041,essv5006160,essv5025142,essv5082293,essv5046850,essv5125129,essv5071394,essv5079155,essv5021842,essv5120990,essv5105208,essv5028727,essv5044015,essv5049828,essv5063016,essv5099607,essv5121598,essv5097726,essv5086443,essv5133110,essv5112156,essv5157573,essv5113820,essv5012123,essv5127106,essv5011458,essv5104765,essv5038586,essv5044671,essv5036287,essv5085770,essv5033943,essv5063140,essv5020202,essv5130289,essv5083978,essv5129020,essv5046182,essv5018070,essv5122850,essv5085344,essv5075559,essv5111065,essv5053379,essv5158485,essv5111523,essv5107069,essv5016291,essv5092399,essv5023086,essv5145906,essv5063826,essv5152788,essv5090759,essv5114964,essv5078890,essv5054730,essv5103805,essv5155651,essv5047274,essv5099697,essv5068685,essv5119189,essv5117137,essv5071694,essv5077893,essv5053714,essv5002701,essv5067958,essv5011222,essv5160932,essv5126912,essv5100643,essv5145365,essv5116654,essv5060129,essv5040735,essv5148050,essv5104461,essv5061448,essv5129662,essv5132916,essv5116767,essv5054369,essv5069574,essv5159993,essv5043807,essv5100679,essv5096046,essv5040648,essv5157935,essv5020690,essv5128952,essv5036827,essv5155578,essv5062726,essv5101224,essv5123491,essv5096682,essv5002561,essv5045750,essv5120962,essv5091198,essv5077650,essv5035677,essv5086444,essv5080907,essv5016270,essv5111274,essv5041305,essv5062414,essv5082086,essv5032051,essv5043164,essv5069471,essv5028106,essv5141498,essv5108401,essv5017748,essv5036839,essv5129213,essv5064014,essv5146284,essv5065209,essv5121471,essv5113753,essv5076633,essv5009906,essv5101265,essv5134624,essv5088187,essv5067270,essv5104348,essv5081155,essv5125323,essv5125994,essv5031390,essv5061391,essv5071168,essv5109763,essv5137621,essv5149900,essv5152681,essv5105061,essv5151633,essv5008116,essv5075154,essv5027418,essv5144464,essv5102234,essv5070158,essv5094718,essv5070073,essv5026889,essv5051139,essv5124422,essv5071740,essv5116902,essv5088818,essv5132369,essv5138371,essv5048188,essv5078351,essv5080143,essv5127242,essv5027689,essv5020316,essv5017547,essv5027994,essv5090455,essv5065286,essv5094599,essv5107583,essv5046761,essv5029597,essv5041210,essv5055101,essv5067266,essv5027493,essv5065223,essv5003992,essv5149423,essv5020629,essv5032483,essv5114342,essv5098463,essv5124547,essv5123796,essv5105811,essv5115202,essv5052656,essv5024836,essv5063423,essv5034012,essv5035379,essv5054913,essv5132523,essv5012645,essv5060788,essv5112247,essv5029164,essv5092075,essv5151487,essv5147695,essv5065719,essv5157389,essv5087713,essv5109122,essv5054856,essv5017202,essv5080923,essv5012314,essv5080048,essv5112583,essv5102309,essv5009827,essv5115525,essv5074183,essv5057977,essv5129999,essv5157213,essv5087822,essv5075705,essv5057284,essv5081423,essv5087002,essv5033347,essv5108457,essv5060742,essv5057302,essv5057793,essv5023084,essv5050917,essv5045724,essv5056542,essv5045539,essv5013751,essv5144373,essv5045879,essv5013573,essv5035276,essv5111392,essv5079093,essv5044926,essv5109759,essv5010881,essv5008435,essv5058954,essv5010558 M 1184 0 263 "" NA07055,NA07347,NA07349,NA10846,NA12003,NA12145,NA12335,NA12336,NA12341,NA12342,NA12343,NA12708,NA12739,NA12748,NA12813,NA12818,NA12830,NA17962,NA17965,NA17966,NA17967,NA17968,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17993,NA17995,NA17996,NA17997,NA17999,NA18102,NA18106,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18149,NA18151,NA18152,NA18153,NA18155,NA18158,NA18159,NA18160,NA18162,NA18166,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18542,NA18544,NA18546,NA18550,NA18552,NA18555,NA18557,NA18558,NA18561,NA18563,NA18566,NA18572,NA18573,NA18577,NA18592,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18609,NA18613,NA18615,NA18616,NA18618,NA18621,NA18622,NA18623,NA18624,NA18626,NA18628,NA18630,NA18631,NA18632,NA18634,NA18636,NA18638,NA18640,NA18641,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18740,NA18747,NA18748,NA18757,NA18939,NA18940,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18953,NA18954,NA18955,NA18961,NA18962,NA18963,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18999,NA19000,NA19001,NA19002,NA19007,NA19009,NA19010,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19062,NA19063,NA19064,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19080,NA19081,NA19083,NA19084,NA19087,NA19088,NA19661,NA19675,NA19677,NA19678,NA19679,NA19680,NA19682,NA19685,NA19686,NA19726,NA19727,NA19794,NA19796,NA20294,NA20295,NA20345,NA20506,NA20515,NA20517,NA20528,NA20542,NA20581,NA20752,NA20757,NA20759,NA20766,NA20808,NA20826,NA20828,NA20846,NA20849,NA20861,NA20871,NA20872,NA20881,NA20883,NA20892,NA20895,NA20898,NA20899,NA20908,NA21088,NA21090,NA21098,NA21103,NA21104,NA21105,NA21106,NA21108,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21357,NA21438,NA21439,NA21485,NA21509,NA21689,NA21776 nsv442787 21 22577638 22586527 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817921 21 22577771 22583706 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416115,nssv1417440,nssv1417630,nssv1417482,nssv1417693,nssv1417389,nssv1417614,nssv1417411,nssv1417340,nssv1417236,nssv1417565,nssv1417138 M 112 0 12 "" NA12813,NA18542,NA18577,NA18609,NA18949,NA18951,NA18953,NA18965,NA18972,NA18978,NA18987,NA18999 dgv1366e1 21 22577771 22586139 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2939,essv1331,essv2385,essv20860,essv5659,essv5434,essv5841,essv3845,essv6211,essv6852,essv5977,essv6511,essv4529,essv4510,essv2755,essv6491,essv6055,essv6093,essv7658,essv5947,essv601,essv3945,essv2745 M 271 0 0 "" NA12145,NA18524,NA18526,NA18542,NA18552,NA18558,NA18563,NA18566,NA18572,NA18577,NA18603,NA18621,NA18623,NA18632,NA18636,NA18947,NA18953,NA18965,NA18970,NA18972,NA18973,NA18976,NA19000 nsv516830 21 22577771 22594581 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678303,nssv666695,nssv661471,nssv680203,nssv675544,nssv689460,nssv681648,nssv660787,nssv656475,nssv652938,nssv670689,nssv656306,nssv680885,nssv674879,nssv683025,nssv657051,nssv672901,nssv662861,nssv689627,nssv664874,nssv683622,nssv664040,nssv653245,nssv674936,nssv665451,nssv656573,nssv691457,nssv654379,nssv673066,nssv689584,nssv674852,nssv691206,nssv671895,nssv667846,nssv676386,nssv677493,nssv690567,nssv669053,nssv685537,nssv658018,nssv687479,nssv661204,nssv682268,nssv672485,nssv653465,nssv677217,nssv689978,nssv668881,nssv683929,nssv685616,nssv668386,nssv654886,nssv658095,nssv664219,nssv652979,nssv688204,nssv659941,nssv690002,nssv672737,nssv668080,nssv676640,nssv680454,nssv670718,nssv687639,nssv664432,nssv679142,nssv693749,nssv669218,nssv666675,nssv670557,nssv681553,nssv654808,nssv652019,nssv671178,nssv653371,nssv674780,nssv662255,nssv652103,nssv666106,nssv657888 M 2026 2 78 "" dgv1367e1 21 22577771 22596775 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7521,essv5705 M 271 0 0 "" NA18532,NA18550 nsv514952 21 22577780 22586534 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628360 S 1414 0 1 "" nsv828846 21 22584259 22584772 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437879 S 31 0 1 "" NA18949 dgv4707n71 21 22643337 22717064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913552,nsv913553 M 6533 0 2 "" MS15199,SP58537 nsv913554 21 22648940 22917993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567710 S 6533 0 1 "" IS31137 nsv913555 21 22699435 22782797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600685 S 6533 0 1 "" IS41909 nsv913556 21 22705277 22859625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546253 S 6533 0 1 "" MS17114 dgv252n21 21 22741406 22867083 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv515966,nsv523724 M 2026 0 6 "" dgv4708n71 21 22782797 22897057 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913557,nsv913559,nsv913560 M 6533 0 9 "" IS31179,IS31187,IS31758,IS32150,IS35145,IS36981,IS40067,MS15199,MS15312 nsv913558 21 22782797 22917993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570274 S 6533 0 1 "" IS31849 nsv913561 21 22837757 22897057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523049 S 6533 0 1 "" SP53596 nsv828847 21 22865163 22867811 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426322 S 31 1 0 "" AK4 nsv834063 21 22926616 23138461 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455565 S 95 1 0 "" nsv517533 21 22942104 22964940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681060,nssv663560,nssv652288 M 2026 0 3 "" nsv913562 21 22947776 23099838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575818 S 6533 0 1 "" IS33811 nsv518564 21 23016809 23130703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696008 S 2026 0 1 "" dgv4709n71 21 23016809 23168499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913564,nsv913563,nsv913565 M 6533 0 3 "" IS31419,MS12071,MS17114 nsv913566 21 23048351 23120686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588285 S 6533 0 1 "" IS38176 esv23586 21 23081044 23082374 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19761,esv11980 M 451 0 4 "" NA18861,NA18916,NA19129,NA19257 dgv4710n71 21 23088015 23185319 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913567,nsv913570 M 6533 0 2 "" IS31155,MS15312 dgv4711n71 21 23088015 23231640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913571,nsv913568 M 6533 0 2 "" IS30742,IS31046 nsv3478 21 23096154 23163547 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9367 S 9 0 1 "" NA18517 esv27533 21 23097702 23132985 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20322 S 451 0 2 "" NA18517,NA19190 nsv514953 21 23098016 23124948 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628361 S 1414 0 1 "" nsv442492 21 23098732 23132654 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421490 21 23098734 23132654 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5141531,essv5029496,essv5117794,essv5086843,essv5151046,essv5090319,essv5010411,essv5154940,essv5034304,essv5124812,essv5087756,essv5078228,essv5131598,essv5112660,essv5151542,essv5094346,essv5109693,essv5083063,essv5098310,essv5105912,essv5078661,essv5121291,essv5071134,essv5060941,essv5059292,essv5155597 M 1184 0 26 "" NA18517,NA19137,NA19139,NA19146,NA19190,NA19430,NA19463,NA19904,NA19916,NA19918,NA20288,NA20364,NA21355,NA21357,NA21364,NA21370,NA21379,NA21400,NA21403,NA21434,NA21489,NA21490,NA21522,NA21523,NA21525,NA21682 nsv433175 21 23099838 23107078 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463056 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv517004 21 23099838 23130703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664314,nssv671854,nssv675264,nssv673793,nssv681197,nssv660540,nssv672053,nssv681854,nssv664923,nssv674985,nssv653601,nssv678194,nssv674478,nssv682541,nssv679434,nssv675026,nssv678012,nssv681308 M 2026 0 18 "" nsv817922 21 23099838 23130703 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416991,nssv1416990,nssv1416518 M 112 0 3 "" NA18517,NA19137,NA19139 nsv817923 21 23099838 23150584 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416417 S 112 0 1 "" NA18856 nsv913569 21 23099838 23150584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570056,nssv1566396,nssv1565906 M 6533 0 3 "" IS30537,IS30683,IS31768 nsv913572 21 23122281 23219493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525097 S 6533 0 1 "" SP55500 dgv4712n71 21 23168499 23306003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913576,nsv913573,nsv913575,nsv913577 M 6533 0 12 "" IS38993,IS41263,MS23871,SP50996,SP51167,SP52500,SP53508,SP54090,SP54942,SP55146,SP57536,SP57891 nsv913574 21 23168499 23378876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536757 S 6533 0 1 "" MS12946 nsv913578 21 23219493 23306003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557008 S 6533 0 1 "" MS22322 nsv528543 21 23231640 23261439 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705155 S 2026 0 1 "" nsv913579 21 23235364 23405164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574753 S 6533 0 1 "" IS33616 nsv523780 21 23255492 23329396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699603 S 2026 0 1 "" dgv4713n71 21 23261439 23314957 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913581,nsv913580 M 6533 0 2 "" IS32607,IS39450 nsv913582 21 23261439 23364298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598678 S 6533 0 1 "" IS41292 dgv4714n71 21 23272470 23341253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913584,nsv913583 M 6533 0 2 "" IS33507,IS36992 dgv4715n71 21 23285179 23369256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913590,nsv913589,nsv913592,nsv913585 M 6533 0 13 "" IS30041,IS32365,IS32615,IS32850,IS33087,IS34658,IS35380,IS37044,IS37993,IS38187,IS38552,IS40867,IS40958 nsv913586 21 23285179 23522259 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600282 S 6533 1 0 "" IS41866 nsv507917 21 23292307 23298307 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623312,nssv620693 M 4 2 0 "" NA15510,NA18994 nsv527459 21 23293077 23298509 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703901 S 2026 0 1 "" dgv4716n71 21 23293077 23351567 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913588,nsv913587 M 6533 0 2 "" IS31729,IS36722 nsv913591 21 23293077 23421443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581864,nssv1582387 M 6533 0 2 "" IS35742,IS35911 esv22324 21 23295465 23297262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11001,esv18366 M 451 0 9 "" NA11995,NA12878,NA18508,NA18511,NA19108,NA19114,NA19129,NA19240,NA19257 esv2538867 21 23296264 23298132 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196664 S 1 0 1 "" NA18507 esv2059301 21 23296484 23297472 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546333 S 1 0 1 "" NA18507 esv9714 21 23296617 23297318 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32155 S 1 0 1 "" SJK esv4981 21 23296619 23297426 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27422 S 1 0 1 Single Asian sample YH "" YH esv991138 21 23296667 23297281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574084 S 3 0 1 "" HuRef nsv187261 21 23296668 23297282 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205839 M 24 "" nsv817924 21 23306003 23373171 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416419 S 112 0 1 "" NA18855 nsv459199 21 23314957 23347097 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536015 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00092 nsv517294 21 23314957 23373171 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666828,nssv654228,nssv684367,nssv671232,nssv684651,nssv679199,nssv670372,nssv690868,nssv679474,nssv657560,nssv686166,nssv689311,nssv675640,nssv667978,nssv665749,nssv689022,nssv692382,nssv687329,nssv683143,nssv703834,nssv677026,nssv690075,nssv679593,nssv673088,nssv668816,nssv692082,nssv664124,nssv659115,nssv669382,nssv662537,nssv683239,nssv673875,nssv675942,nssv688226,nssv680886,nssv682886,nssv679999 M 2026 0 37 "" nsv913593 21 23317849 23369256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595893 S 6533 1 0 "" IS40349 dgv1368e1 21 23320362 23512054 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17378,esv940 M 271 0 0 "" NA18855 esv35022 21 23321000 23372706 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979881,essv6988260 M 771 0 1 "" NA18855 nsv913594 21 23324326 23349496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540447 S 6533 0 1 "" MS14846 dgv4717n71 21 23324326 23421443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913595,nsv913599 M 6533 0 2 "" IS33864,MS10802 nsv913596 21 23329396 23364298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551373,nssv1562841 M 6533 0 2 "" MS18847,MS25751 nsv913597 21 23336363 23381870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550869 S 6533 0 1 "" MS18620 nsv437847 21 23338997 23360640 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467728 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19161 nsv459200 21 23345177 23347197 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536016 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01411 nsv817925 21 23345177 23352592 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416992,nssv1416993,nssv1416819,nssv1416372,nssv1416519,nssv1416418,nssv1416420,nssv1416520,nssv1416818 M 112 0 9 "" NA18515,NA18516,NA18856,NA18857,NA19138,NA19139,NA19140,NA19159,NA19161 esv2421856 21 23345177 23356058 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5008195,essv5055791,essv5148225,essv5154657,essv5155221,essv5090907,essv5071840,essv5146691,essv5083168,essv5011324,essv5155439,essv5069886,essv5147922,essv5024435,essv5125254,essv5090847,essv5135288,essv5021345,essv5143168,essv5160433,essv5158304,essv5047327,essv5107291,essv5103058,essv5149831,essv5086197,essv5082575,essv5109496,essv5099218,essv5046936,essv5074665,essv5096699,essv5114889,essv5094177,essv5138906,essv5118600,essv5045433,essv5094734,essv5105373,essv5094167,essv5118828 M 1184 0 41 "" NA18506,NA18508,NA18515,NA18516,NA18855,NA18857,NA18912,NA19031,NA19138,NA19139,NA19140,NA19150,NA19159,NA19161,NA19176,NA19235,NA19324,NA19332,NA19391,NA19431,NA19468,NA20333,NA20342,NA20356,NA20358,NA21101,NA21123,NA21403,NA21404,NA21447,NA21457,NA21513,NA21514,NA21517,NA21528,NA21587,NA21600,NA21683,NA21693,NA21738,NA21826 nsv913598 21 23345177 23369256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595152 S 6533 1 0 "" IS40135 esv27171 21 23345196 23357077 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16792 S 451 0 2 "" NA18508,NA18523 nsv438318 21 23345578 23354462 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470795,nssv470797,nssv470794 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18506,NA18508,NA18523 nsv459201 21 23347097 23352592 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536017 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00931 nsv913600 21 23347197 23396799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570357 S 6533 0 1 "" IS31904 nsv442788 21 23351419 23355207 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2554685 21 23357928 23359354 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288440 S 1 0 1 "" NA18507 esv3855 21 23366544 23366788 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26296 S 1 0 1 Single Asian sample YH "" YH esv1225289 21 23366630 23366710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362346 S 2 0 1 "" HuRef dgv4718n71 21 23369256 23421443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913602,nsv913601 M 6533 0 2 "" MS22104,SP54792 nsv511068 21 23377907 23394779 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622434 S 4 0 0 "" NA10860 nsv913603 21 23378876 23470655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546255 S 6533 0 1 "" MS17114 nsv459202 21 23380614 23473480 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536018 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00725 nsv913604 21 23385645 23421443 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588081 S 6533 1 0 "" IS38151 nsv507918 21 23387577 23393577 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620694,nssv623313 M 4 2 0 "" NA15510,NA18994 nsv913605 21 23397619 23458375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600053 S 6533 0 1 "" IS41832 essv7668 21 23400864 23430325 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18632 nsv470891 21 23405164 23452912 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544772 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01228 nsv913606 21 23409950 23565006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555841 S 6533 0 1 "" MS21649 nsv515538 21 23421443 23561264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663858,nssv689244,nssv682809,nssv655451,nssv682680,nssv666033,nssv654324,nssv685377 M 2026 0 8 "" esv33809 21 23421656 23524795 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96454 S 51 0 1 "" 22261 nsv828848 21 23431799 23432272 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437168 S 31 0 1 "" NA18542 esv2612461 21 23444188 23445571 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188781 S 1 0 1 "" NA18507 esv2239110 21 23463900 23464364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879459 S 1 0 1 "" NA18507 nsv187040 21 23498634 23498687 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205618 M 24 "" nsv187322 21 23498660 23498715 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205900 M 24 "" dgv4719n71 21 23537957 23613848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913608,nsv913607 M 6533 0 2 "" SP52562,SP54490 nsv913609 21 23584179 23670495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579342 S 6533 0 1 D21S2088E IS35083 nsv3479 21 23598247 23627924 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10309 S 9 1 0 "" NA18956 nsv519622 21 23605342 23632073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692942,nssv657100,nssv679644,nssv695856,nssv697146,nssv681534 M 2026 0 6 "" nsv913610 21 23620400 23820287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592004 S 6533 0 1 D21S2088E IS39119 esv2428010 21 23632258 23633710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391093 S 1 0 1 "" NA18507 esv269279 21 23633653 23634011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504567 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 esv1627296 21 23644248 23644308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240340 S 2 0 1 "" HuRef nsv913611 21 23651834 23719145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536962,nssv1586675,nssv1547942 M 6533 3 0 D21S2088E IS37915,MS13032,MS17637 nsv511069 21 23660605 23697020 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621660 S 4 0 0 D21S2088E NA15510 esv2610584 21 23663145 23664645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180594 S 1 0 1 D21S2088E NA18507 esv2087595 21 23663930 23664622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4576062 S 1 0 1 D21S2088E NA18507 esv1003564 21 23664114 23664427 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583973 S 3 0 1 D21S2088E HuRef nsv913612 21 23674565 23719145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505131 S 6533 1 0 D21S2088E SP53060 dgv4720n71 21 23686623 23898269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913615,nsv913618,nsv913613,nsv913617,nsv913614,nsv913619 M 6533 0 6 "" IS30564,IS31617,IS33196,IS37226,IS39666,MS12827 nsv470892 21 23699579 23733653 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544773 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01397 esv22265 21 23706955 23709953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14177 S 451 0 1 "" NA19129 nsv528530 21 23709931 23746337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705141 S 2026 0 1 "" nsv913616 21 23719145 23776561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571194 S 6533 0 1 "" IS32615 nsv820300 21 23719590 23727782 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419861 S 2 1 0 "" AK1 esv1139028 21 23723151 23723151 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300897 S 2 1 0 "" HuRef esv1407540 21 23723162 23723162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057049 S 2 1 0 "" HuRef dgv4721n71 21 23731315 23759301 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913623,nsv913620,nsv913624 M 6533 0 23 "" IS35911,SP50058,SP50159,SP50761,SP50832,SP50882,SP51049,SP51226,SP51302,SP51460,SP52174,SP52308,SP53320,SP53990,SP54042,SP54552,SP54591,SP54725,SP55663,SP56041,SP56223,SP56467,SP56828 nsv913621 21 23731315 23820287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583016 S 6533 0 1 "" IS36219 dgv4722n71 21 23731315 23858500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913622,nsv913626 M 6533 0 2 "" IS39718,MS20247 esv6135 21 23736039 23736621 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28576 S 1 0 0 "" SJK nsv913625 21 23741019 23756756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503224 S 6533 0 1 "" SP52008 nsv517650 21 23753051 23809711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696731,nssv663339,nssv655385,nssv673189,nssv664315,nssv656804,nssv685490,nssv678055,nssv652667,nssv681198,nssv683951,nssv694452,nssv653390,nssv657561,nssv675732,nssv678147,nssv689512,nssv660627 M 2026 0 18 "" nsv528736 21 23761888 24107000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705392 S 2026 0 1 "" esv2421576 21 23770555 23809711 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064741,essv5045527,essv5043145,essv5043102,essv5050251,essv5070439,essv5076963,essv5078057,essv5092772,essv5134181,essv5133955,essv5005736,essv5103038,essv5030701,essv5086382,essv5032152,essv5044924,essv5113602,essv5145031 M 1184 0 19 "" NA19096,NA19097,NA19375,NA19404,NA19436,NA19463,NA19467,NA19835,NA20294,NA20295,NA21300,NA21312,NA21365,NA21366,NA21370,NA21473,NA21523,NA21613,NA21825 nsv913627 21 23776561 23858500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570580 S 6533 0 1 "" IS32167 esv1002651 21 23780114 23788872 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565417 S 3 0 1 "" HuRef dgv4723n71 21 23808080 23858500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913629,nsv913628 M 6533 0 2 "" IS41982,MS12366 nsv913630 21 23834001 23893485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579343 S 6533 0 1 "" IS35083 nsv526987 21 23840748 23858500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703360 S 2026 0 1 "" esv272663 21 23897338 23897584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582057,essv2583268 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv269164 21 23897341 23897605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565769,essv2571730,essv2546486,essv2536455,essv2522843,essv2556544,essv2577195,essv2576663,essv2535181,essv2552253,essv2564536,essv2553650,essv2519975,essv2537504,essv2546643,essv2536867,essv2569845,essv2527087,essv2561508,essv2544992,essv2563051,essv2523780,essv2552961,essv2541310,essv2538238,essv2543018,essv2539731,essv2549383,essv2519544,essv2566094,essv2567925,essv2529025,essv2567334,essv2541853,essv2570306,essv2553177,essv2572220,essv2528151,essv2555260,essv2567027,essv2530071,essv2527561,essv2522591,essv2531545,essv2573431,essv2543298,essv2572154,essv2525794,essv2526940,essv2526321,essv2549683,essv2536177,essv2533019,essv2563331 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA10847,NA11829,NA11840,NA11881,NA11920,NA11931,NA11994,NA12043,NA12154,NA12249,NA12489,NA12751,NA12763,NA12815,NA12878,NA12892,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18563,NA18564,NA18566,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18907,NA18943,NA18947,NA18949,NA18952,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19114,NA19225 nsv913631 21 23920413 23971962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582164,nssv1592952 M 6533 2 0 "" IS35802,IS39322 esv1003970 21 24005311 24005370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565882 S 3 0 1 "" HuRef esv1674144 21 24005359 24005419 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083476 S 2 0 1 "" HuRef nsv913632 21 24019544 24055057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535782 S 6533 0 1 "" MS12471 esv1605735 21 24028212 24028212 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629842 S 2 1 0 "" HuRef nsv507919 21 24029601 24035601 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623314,nssv617952,nssv620695 M 4 3 0 "" CHM,NA15510,NA18994 nsv913633 21 24068370 24136851 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550692 S 6533 0 1 "" MS18540 nsv834064 21 24070645 24251717 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455566 S 95 0 1 "" esv2422301 21 24077624 24332553 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161533 S 181 1 0 "" ND04104 esv1499777 21 24101862 24101912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737630 S 2 0 1 "" HuRef nsv913634 21 24145543 24322481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542583 S 6533 0 1 "" MS15802 esv2604400 21 24179552 24185977 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209517 S 1 0 1 "" NA18507 esv24234 21 24180111 24185152 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10451 S 451 0 7 "" NA18508,NA18511,NA18517,NA18858,NA18861,NA19099,NA19129 nsv519047 21 24183713 24197284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696518 S 2026 0 1 "" esv2421931 21 24218041 24221560 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070633,essv5133283,essv5076094,essv5136914,essv5060737,essv5138340,essv5005743,essv5094781,essv5037291,essv5092933,essv5053242,essv5152238 M 1184 0 12 "" NA10854,NA11839,NA12154,NA12815,NA19652,NA19653,NA19661,NA19662,NA20582,NA20806,NA21575,NA21617 nsv442493 21 24218044 24221560 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2521622 21 24221810 24222336 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231138 S 1 1 0 "" NA18507 esv1179300 21 24222070 24222070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014328 S 2 1 0 "" HuRef esv2620262 21 24224456 24225964 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173677 S 1 0 1 "" NA18507 esv1354392 21 24224900 24224979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333842 S 2 0 1 "" HuRef esv270035 21 24230723 24236891 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504028 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv26442 21 24255498 24255967 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15144 S 451 1 0 "" NA18861 nsv913635 21 24278435 24359376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570598,nssv1596583,nssv1581232,nssv1597631,nssv1586547 M 6533 0 5 "" IS32282,IS35545,IS37860,IS40571,IS41051 nsv913636 21 24278435 24432164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568772 S 6533 0 1 "" IS31335 nsv459208 21 24305703 24343408 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536019 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00638 esv1937268 21 24310334 24310783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680753 S 1 0 1 "" NA18507 nsv507920 21 24322761 24328761 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617953,nssv620696 M 4 2 0 "" CHM,NA15510 esv272250 21 24333217 24333371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580537,essv2579590 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269194 21 24333223 24333360 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510158,essv2500860,essv2496689,essv2511439,essv2495263,essv2507943,essv2502287,essv2512401,essv2512207,essv2513160,essv2510325,essv2495867,essv2502589,essv2493329,essv2500310,essv2502796,essv2511882,essv2510609,essv2494323,essv2493207,essv2504267,essv2503005,essv2496171,essv2493780,essv2494917,essv2509049,essv2500355,essv2512983,essv2507927,essv2494437,essv2500070,essv2512644,essv2508213,essv2508452,essv2496098,essv2501637,essv2512914,essv2498449,essv2505693,essv2507272,essv2494056,essv2509249,essv2495718,essv2511700,essv2504908,essv2503131,essv2511159,essv2503541,essv2500559,essv2505609,essv2504633,essv2506920,essv2506624,essv2499164,essv2510891,essv2498674,essv2497679,essv2499778,essv2512116,essv2501734,essv2502172,essv2503638,essv2503882,essv2504359,essv2513100 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA10847,NA11829,NA11830,NA11894,NA11920,NA11992,NA12003,NA12004,NA12043,NA12155,NA12249,NA12414,NA12489,NA12750,NA12776,NA12891,NA12892,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18511,NA18517,NA18520,NA18522,NA18537,NA18547,NA18564,NA18572,NA18573,NA18577,NA18579,NA18582,NA18603,NA18608,NA18609,NA18858,NA18861,NA18870,NA18871,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18947,NA18956,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19225,NA19238,NA19239,NA19257 nsv913637 21 24363768 24432164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583912 S 6533 0 1 "" IS36722 esv27187 21 24368338 24389553 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17921 S 451 1 0 "" NA12006 esv1001336 21 24375356 24376181 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587005 S 3 1 0 "" HuRef nsv913638 21 24391533 24432164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554765 S 6533 0 1 "" MS20969 esv268397 21 24396440 24396794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499400,essv2508000,essv2512400,essv2493458,essv2504174,essv2493729,essv2512975,essv2504565,essv2500123,essv2512846,essv2500947,essv2507399,essv2504888,essv2501255 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA12003,NA12043,NA12763,NA18505,NA18517,NA18547,NA18563,NA18573,NA18609,NA18856,NA18912,NA18942,NA19093 nsv819498 21 24397873 24400587 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419469 S 2 0 1 "" AK1 nsv470893 21 24398939 24425454 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544774 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv828849 21 24406288 24406748 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427975,nssv1424690 M 31 2 0 "" AK8,NA18582 nsv510500 21 24410413 24416413 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621506 S 4 0 1 "" NA15510 nsv913639 21 24425455 24576688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523755 S 6533 1 0 "" SP54177 nsv819537 21 24428203 24429961 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419319 S 2 0 1 "" AK1 nsv828850 21 24429284 24429873 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424691,nssv1431553,nssv1435594,nssv1437086,nssv1440070,nssv1425450,nssv1430281,nssv1434122 M 31 0 8 "" AK14,AK2,NA18526,NA18537,NA18582,NA18592,NA18942,NA18947 nsv527417 21 24432164 24449708 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703855 S 2026 1 0 "" esv2454402 21 24453257 24454739 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235485 S 1 0 1 "" NA18507 esv29489 21 24461108 24468704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11391 S 451 0 1 "" NA18861 dgv530n27 21 24475083 24513223 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459209,nsv459210 M 1557 2 0 "" HGDP01207,HGDP01240 dgv4724n71 21 24475083 24516197 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913641,nsv913642,nsv913640 M 6533 3 0 "" SP50120,SP50627,SP52724 nsv438319 21 24477775 24500652 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470798 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18579 nsv524792 21 24477775 24513223 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700784 S 2026 1 0 "" dgv1369e1 21 24483440 24515887 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1223,essv5647 M 271 0 0 "" NA18579 dgv4725n71 21 24483502 24715702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913643,nsv913644 M 6533 0 2 "" IS33196,SP52431 dgv4726n71 21 24606622 24715702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913645,nsv913646,nsv913647 M 6533 0 3 "" IS30432,IS33530,IS41043 esv270392 21 24613118 24613273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493321,essv2496468,essv2504783,essv2507012,essv2509543,essv2510437 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18510,NA19099,NA19102,NA19129,NA19172 esv4849 21 24632012 24632541 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27290 S 1 0 1 Single Asian sample YH "" YH esv1109669 21 24632058 24632477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357254 S 2 0 1 "" HuRef nsv523388 21 24634717 24682726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699137 S 2026 0 1 "" esv2523449 21 24636250 24637761 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228716 S 1 0 1 "" NA18507 nsv828851 21 24671221 24673970 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433371 S 31 0 1 "" NA18972 esv987700 21 24682316 24692012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565050 S 3 0 1 "" HuRef esv1091670 21 24686047 24686399 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331529 S 2 0 1 "" HuRef nsv515539 21 24692463 24695412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655452,nssv682681,nssv663859 M 2026 0 3 "" esv269462 21 24705027 24705312 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517415 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 nsv828852 21 24730786 24731503 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422316 S 31 0 1 "" NA18997 nsv522112 21 24744845 24765417 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694884 S 2026 1 0 "" nsv913648 21 24761425 25136916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572966 S 6533 0 1 "" IS33196 esv267512 21 24876605 24881121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519004 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv913649 21 24880617 24899522 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513382 S 6533 1 0 "" SP55748 nsv526728 21 24896154 24899522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703069 S 2026 0 1 "" nsv518444 21 24946353 24948167 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695881 S 2026 1 0 "" nsv470895 21 24962613 25008562 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544775 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00866 esv5698 21 24995145 24995208 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28139 S 1 1 0 "" SJK nsv834065 21 25040290 25205270 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455568,nssv1455567 M 95 2 0 "" dgv4727n71 21 25056091 25145780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913650,nsv913651 M 6533 0 2 "" IS33786,IS34599 esv1008960 21 25109136 25116811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563759 S 3 0 1 "" HuRef nsv459213 21 25154439 25227401 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536022 S 1557 0 1 "" NINDS_147 esv2636057 21 25158040 25159654 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379815 S 1 0 1 "" NA18507 nsv470896 21 25185420 25233814 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544777 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00699 esv273685 21 25207909 25208149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579824 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv267616 21 25207938 25208108 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496857,essv2510572,essv2503047,essv2509779,essv2494870,essv2505344,essv2507190,essv2499185,essv2498883,essv2499641,essv2501881 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18507,NA18508,NA18520,NA18853,NA18870,NA19114,NA19138,NA19225,NA19239 nsv522561 21 25249822 25252226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705944 S 2026 0 1 "" esv2354726 21 25263737 25264178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782236 S 1 0 1 "" NA18507 esv267901 21 25276074 25276404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565588,essv2575862,essv2546155,essv2521354,essv2525874,essv2542446,essv2536449,essv2523011,essv2571085,essv2556716,essv2568300,essv2523157,essv2577510,essv2548552,essv2521538,essv2576874,essv2525511,essv2550330,essv2535390,essv2554275,essv2544367,essv2552245,essv2520289,essv2547233,essv2529198,essv2558569,essv2564383,essv2577729,essv2553555,essv2559533,essv2565442,essv2576314,essv2520185,essv2564052,essv2555086,essv2561966,essv2537469,essv2528186,essv2546676,essv2530516,essv2556868,essv2532387,essv2550064,essv2538893,essv2561488,essv2544785,essv2563062,essv2523727,essv2552958,essv2541089,essv2538286,essv2542647,essv2540634,essv2564866,essv2534699,essv2561056,essv2539777,essv2549254,essv2519885,essv2560001,essv2522294,essv2566181,essv2531161,essv2532697,essv2567780,essv2567636,essv2541563,essv2569958,essv2563891,essv2553259,essv2535874,essv2572222,essv2558976,essv2541986,essv2551163,essv2556436,essv2539483,essv2578209,essv2573110,essv2533448,essv2555645,essv2567047,essv2566656,essv2530127,essv2573756,essv2527652,essv2555813,essv2534445,essv2522371,essv2531664,essv2573656,essv2571952,essv2525612,essv2529510,essv2575700,essv2538795,essv2524072,essv2574640,essv2572779,essv2560373,essv2549616,essv2571477,essv2574281,essv2535985,essv2537775,essv2548722,essv2533281,essv2554558,essv2547972,essv2524848,essv2563501,essv2557936 M 157 112 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA11995,NA12004,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18486,NA18501,NA18505,NA18511,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18871,NA18912,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18973,NA18980,NA19093,NA19099,NA19108,NA19129,NA19138,NA19143,NA19190,NA19225,NA19238,NA19240 esv274172 21 25276076 25276404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581660,essv2582466,essv2583243,essv2584153,essv2583585 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv29507 21 25281780 25286426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12196 S 451 0 4 "" NA18517,NA18523,NA18861,NA18907 nsv834066 21 25340087 25515908 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455569 S 95 1 0 "" esv269660 21 25419274 25419599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557880,essv2565784,essv2571578,essv2525881,essv2542235,essv2522832,essv2543975,essv2568267,essv2545422,essv2523323,essv2531936,essv2521634,essv2535405,essv2554263,essv2552069,essv2529236,essv2558410,essv2553902,essv2559737,essv2565398,essv2537369,essv2528615,essv2546817,essv2556961,essv2552665,essv2551775,essv2569426,essv2550039,essv2536857,essv2569865,essv2561390,essv2544883,essv2562885,essv2523813,essv2553042,essv2541421,essv2538358,essv2543028,essv2540379,essv2524567,essv2565028,essv2534625,essv2561209,essv2539873,essv2549304,essv2559824,essv2521936,essv2566016,essv2532552,essv2567728,essv2528977,essv2567338,essv2569983,essv2553365,essv2535813,essv2541999,essv2550884,essv2543712,essv2539379,essv2578475,essv2555391,essv2533676,essv2555707,essv2567177,essv2566345,essv2529968,essv2573958,essv2527559,essv2555883,essv2534222,essv2522452,essv2531579,essv2573682,essv2543066,essv2571895,essv2525707,essv2526743,essv2529616,essv2575238,essv2524139,essv2530366,essv2572907,essv2568642,essv2560508,essv2571253,essv2551474,essv2536226,essv2538129,essv2548776,essv2547627,essv2524882,essv2563199 M 157 92 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07347,NA07357,NA10847,NA10851,NA11829,NA11840,NA11918,NA11919,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12144,NA12249,NA12287,NA12489,NA12749,NA12750,NA12763,NA12776,NA12812,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18508,NA18511,NA18517,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18605,NA18608,NA18856,NA18858,NA18870,NA18912,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19102,NA19129,NA19141,NA19143,NA19147,NA19190,NA19238,NA19257 esv274456 21 25419274 25419599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581758,essv2582346,essv2582849,essv2583951 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 nsv459214 21 25431539 25459035 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536023 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543 nsv834067 21 25481429 25638126 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455570 S 95 0 1 "" nsv3480 21 25498423 25531950 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1621 S 9 1 0 "" NA19240 nsv913652 21 25530255 25591195 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583125 S 6533 1 0 "" IS36269 esv1345985 21 25604304 25604304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307192 S 2 1 0 "" HuRef nsv510791 21 25739234 25792716 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619014 S 4 0 1 "" NA10860 esv2528095 21 25746174 25747627 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373568 S 1 0 1 "" NA18507 esv1001904 21 25746546 25747338 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564005 S 3 0 1 "" HuRef esv2272315 21 25746808 25747465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601909 S 1 0 1 "" NA18507 esv8684 21 25746986 25747301 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31125 S 1 0 1 "" SJK esv993749 21 25747005 25747271 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578893 S 3 0 1 "" HuRef esv2605516 21 25747008 25747274 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392907 S 1 0 1 "" NA18507 esv1254390 21 25747017 25747284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4237878 S 2 0 1 "" HuRef nsv187229 21 25747018 25747284 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205807 M 24 "" esv27191 21 25783995 25787278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14706 S 451 0 5 "" NA18502,NA18907,NA19129,NA19190,NA19225 nsv510501 21 25896419 25902419 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618460,nssv624255,nssv622322 M 4 0 3 MRPL39 CHM,NA10860,NA18994 nsv522061 21 25926920 25931195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694832 S 2026 0 1 "" nsv913653 21 25982856 26065033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556668 S 6533 0 1 ATP5J,GABPA,JAM2 MS22104 nsv913654 21 26065908 26174474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583396 S 6533 0 1 GABPA IS36458 esv271236 21 26085437 26086838 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500217,essv2508391,essv2505071,essv2508807,essv2512536,essv2508652,essv2505161,essv2510480,essv2499757,essv2501803,essv2503868,essv2499597 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA12006,NA12749,NA12828,NA12878,NA18489,NA18592,NA18853,NA19172,NA19225,NA19239 esv272778 21 26085461 26086842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580488,essv2579961,essv2581003,essv2579245 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239 nsv459215 21 26090514 26154069 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536024 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00525 dgv4728n71 21 26094576 26174474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913656,nsv913655 M 6533 0 4 "" MS10094,MS16859,MS19486,MS21162 esv25905 21 26096911 26101599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13057 S 451 0 1 "" NA19225 nsv442494 21 26097651 26100417 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514954 21 26097776 26100428 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628362 S 1414 0 1 "" dgv531n27 21 26116740 26158485 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459216,nsv459217 M 1557 0 2 "" HGDP00752,HGDP00769 nsv518566 21 26116740 26163866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696009 S 2026 0 1 "" nsv459220 21 26117260 26138228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536028 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00791 nsv187435 21 26154828 26160728 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206013 M 24 "" esv2621465 21 26173965 26174696 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169927 S 1 1 0 "" NA18507 esv4736 21 26196591 26196901 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27177 S 1 0 1 Single Asian sample YH APP YH nsv513715 21 26293817 26296539 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626967 S 1 0 0 APP 1 esv998808 21 26295263 26298280 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563470 S 3 0 0 APP HuRef esv2648254 21 26295839 26296662 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290187 S 1 0 0 APP NA18507 nsv513716 21 26295917 26296397 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626968 S 1 0 0 APP 1 esv2965 21 26296018 26296673 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25406 S 1 0 0 Single Asian sample YH APP YH esv1301961 21 26296029 26296570 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862961 S 2 0 0 APP HuRef esv7875 21 26296288 26296371 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30316 S 1 0 0 APP SJK nsv510502 21 26308617 26314617 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618461 S 4 0 1 APP CHM nsv526774 21 26376866 26384598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703126 S 2026 0 1 APP nsv913657 21 26490211 26538473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588555 S 6533 0 1 "" IS38216 nsv524877 21 26533077 26541436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700883 S 2026 0 1 "" nsv524976 21 26557022 26558958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701004 S 2026 0 1 "" dgv4729n71 21 26563534 26681797 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913658,nsv913659 M 6533 2 0 "" IS32312,IS33493 nsv507921 21 26589463 26595463 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619279,nssv623315,nssv617954 M 4 3 0 "" CHM,NA10860,NA18994 nsv828854 21 26703828 26706592 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440071 S 31 0 1 "" NA18537 nsv817926 21 26704839 26704973 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417123 S 112 0 1 "" NA18537 nsv913660 21 26737523 26791547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570664 S 6533 1 0 CYYR1 IS32312 nsv3481 21 26755106 26789678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3071 S 9 1 0 CYYR1 NA18555 nsv913661 21 26901795 26947332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588703 S 6533 0 1 "" IS38235 nsv436672 21 26940471 26942856 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465752 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1781117 21 26942554 26943508 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610447 S 2 0 0 "" HuRef nsv515955 21 26947332 26948370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679475,nssv666133,nssv656706,nssv656805,nssv667347,nssv665452,nssv661882 M 2026 0 7 "" nsv510503 21 26989239 26995239 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621507 S 4 0 1 "" NA15510 nsv459223 21 26991908 27014402 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536029 S 1557 0 1 "" 1780854459_A nsv834068 21 27101541 27282679 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455571 S 95 0 1 ADAMTS1,ADAMTS5,MIR4759 nsv437848 21 27112269 27125539 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467729 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 nsv3482 21 27113168 27143846 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4661 S 9 0 1 ADAMTS1 NA19129 nsv517005 21 27116745 27122320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677872,nssv670049,nssv667068,nssv687297,nssv671645,nssv654590,nssv655308,nssv676487,nssv656285,nssv666440,nssv665803,nssv692034,nssv668210,nssv682296,nssv670511,nssv655153,nssv680046,nssv685209,nssv663340,nssv688526,nssv689312,nssv669383,nssv655757,nssv685422,nssv661020,nssv688266,nssv666652,nssv673190,nssv680748,nssv663949,nssv660900,nssv672054,nssv660383,nssv677056,nssv666211,nssv688205,nssv686338,nssv657993,nssv687589,nssv697761,nssv664145,nssv658622,nssv682682,nssv658189,nssv676114,nssv680574,nssv675566,nssv661719,nssv659754,nssv686744,nssv691484,nssv690739,nssv652581,nssv686225,nssv656544,nssv652138,nssv693911,nssv659966,nssv656515,nssv693501,nssv661414,nssv663486,nssv665537,nssv658072,nssv685695,nssv653866,nssv690452,nssv661205,nssv673223,nssv658212,nssv690480,nssv671717,nssv686643,nssv661300,nssv675905,nssv679678,nssv673679,nssv677094,nssv677507,nssv680486,nssv685964,nssv657790,nssv684229,nssv676425,nssv660541,nssv662327,nssv692550,nssv689676,nssv693063,nssv663304,nssv669304,nssv690014,nssv656979,nssv672421,nssv682520,nssv683085,nssv676086,nssv690869,nssv683761,nssv683363,nssv673590,nssv682096,nssv668976,nssv692711,nssv667528,nssv658768,nssv692993,nssv685491,nssv687726,nssv693106,nssv687562,nssv679876,nssv674479,nssv653058,nssv686580,nssv662967,nssv675886,nssv679049,nssv690076,nssv682810,nssv692943,nssv672496,nssv687653,nssv689918,nssv671475,nssv655087,nssv653602,nssv680516,nssv693413,nssv685732,nssv686623,nssv660335,nssv675230,nssv655939,nssv668179,nssv664924,nssv673311,nssv661793,nssv687614 M 2026 0 139 "" esv22348 21 27117121 27123693 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21254 S 451 0 6 "" NA18861,NA18916,NA19099,NA19108,NA19129,NA19257 nsv459224 21 27117916 27120255 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536030 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00927 dgv532n27 21 27117916 27122320 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459228,nsv459225,nsv459227,nsv459226 M 1557 0 4 "" HGDP00454,HGDP00471,HGDP01201,HGDP01274 nsv438320 21 27117916 27122320 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470799 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19099 nsv817927 21 27117916 27122320 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416899,nssv1416618 M 112 0 2 "" NA19172,NA19239 esv2421633 21 27117916 27122593 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5011516,essv5065376,essv5009223,essv5157044,essv5064890,essv5058025,essv5098865,essv5122316,essv5040668,essv5124378,essv5003502,essv5144018,essv5144854,essv5078782,essv5147874,essv5127451,essv5041017,essv5045233,essv5095733,essv5015746,essv5054706,essv5081246,essv5022369,essv5007166,essv5082427,essv5124608,essv5074793,essv5057019,essv5110777,essv5027073,essv5130961,essv5097095,essv5066873,essv5023376,essv5030585,essv5048166,essv5062562,essv5087458,essv5022314,essv5071690,essv5112076,essv5097985,essv5122201,essv5011387,essv5153442,essv5015414,essv5042142,essv5129178,essv5051128,essv5027804,essv5112369,essv5054908,essv5018954,essv5012167,essv5070686,essv5122864,essv5128818,essv5059724,essv5031805,essv5023777,essv5059250,essv5032781,essv5091636,essv5111592,essv5107602,essv5020169,essv5102117,essv5031627,essv5130760,essv5104890,essv5069911,essv5057361,essv5148467,essv5135401,essv5044036,essv5052477,essv5095333,essv5106233,essv5140640,essv5073898,essv5064350,essv5115041,essv5136249,essv5142576,essv5115458,essv5046513,essv5005359,essv5033097,essv5029055,essv5018190,essv5076369,essv5115812,essv5109991,essv5105157,essv5021879,essv5058727,essv5117104,essv5139978,essv5101829,essv5110084,essv5037895,essv5097622,essv5072146,essv5022527,essv5130438,essv5054021,essv5030853 M 1184 0 107 "" NA18486,NA18497,NA18499,NA18518,NA18520,NA18861,NA18868,NA18869,NA18871,NA18872,NA18912,NA18914,NA18916,NA18930,NA19038,NA19046,NA19099,NA19102,NA19108,NA19109,NA19113,NA19128,NA19129,NA19143,NA19149,NA19151,NA19172,NA19239,NA19248,NA19249,NA19257,NA19258,NA19307,NA19308,NA19313,NA19334,NA19384,NA19385,NA19398,NA19440,NA19445,NA19449,NA19452,NA19457,NA19463,NA19469,NA19471,NA19473,NA19703,NA19708,NA19713,NA19818,NA19828,NA19835,NA19836,NA19917,NA19983,NA20276,NA20281,NA20289,NA20290,NA20292,NA20294,NA20341,NA20348,NA21297,NA21311,NA21312,NA21313,NA21314,NA21317,NA21353,NA21355,NA21360,NA21379,NA21387,NA21391,NA21399,NA21402,NA21404,NA21415,NA21417,NA21424,NA21434,NA21435,NA21440,NA21442,NA21451,NA21475,NA21488,NA21489,NA21510,NA21526,NA21527,NA21528,NA21529,NA21576,NA21580,NA21583,NA21587,NA21596,NA21631,NA21647,NA21719,NA21741,NA21825,NA21826 nsv470897 21 27117916 27137937 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544778 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS1 HGDP00467 nsv528278 21 27137937 27141178 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704848 S 2026 1 0 ADAMTS1 esv267602 21 27143194 27143357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558221,essv2540703,essv2521348,essv2526015,essv2536730,essv2544220,essv2570947,essv2568257,essv2577387,essv2548313,essv2550608,essv2535183,essv2544470,essv2552229,essv2564764,essv2577655,essv2565219,essv2564148,essv2539929,essv2520758,essv2557397,essv2578783,essv2536956,essv2527254,essv2542131,essv2575100,essv2549834,essv2551329,essv2535904,essv2554421,essv2547982,essv2524853 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA07347,NA07357,NA10851,NA11831,NA11894,NA11918,NA11920,NA11992,NA11993,NA11995,NA12043,NA12045,NA12155,NA12249,NA12414,NA12489,NA12751,NA12761,NA12812,NA12828,NA18489,NA18498,NA18499,NA18510,NA18517,NA18522,NA18856,NA19102,NA19225,NA19257 esv1691000 21 27143225 27143225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860201 S 2 1 0 "" HuRef esv24513 21 27149654 27156157 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20165 S 451 1 0 "" NA15510 esv273591 21 27171078 27171435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579079 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268836 21 27171085 27171425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556465,essv2545581,essv2570546,essv2530864,essv2528212,essv2520752,essv2557572,essv2557076,essv2552430,essv2551703,essv2569562,essv2578788,essv2550217,essv2558941,essv2569773,essv2523763,essv2552998,essv2541151,essv2524748,essv2564960,essv2539668,essv2549294,essv2519870,essv2522295,essv2566180,essv2530964,essv2532656,essv2567991,essv2528965,essv2535537,essv2559382,essv2551113,essv2568989,essv2528003,essv2562525,essv2533932,essv2567056,essv2566426,essv2530027,essv2543037,essv2529470,essv2538616,essv2526500,essv2530194,essv2572728,essv2568506,essv2560266,essv2549954,essv2571140,essv2546048,essv2574100,essv2551555 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA12003,NA12044,NA12873,NA12891,NA18498,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18511,NA18516,NA18520,NA18537,NA18542,NA18545,NA18555,NA18558,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18608,NA18638,NA18858,NA18861,NA18907,NA18909,NA18916,NA18947,NA18948,NA18949,NA18965,NA19093,NA19108,NA19114,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv275324 21 27202372 27206392 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585415 S 1250 0 1 "" esv1733186 21 27270407 27270505 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746400 S 2 0 1 "" HuRef nsv187378 21 27270522 27270581 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205956 M 24 "" nsv3483 21 27272270 27306191 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7711 S 9 1 0 "" NA12156 dgv1370e1 21 27302101 27462314 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12770,esv150 M 271 0 0 "" NA19120 esv2480290 21 27332833 27332912 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179794 S 1 0 1 "" NA18507 esv26845 21 27398805 27399490 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16011 S 451 0 1 "" NA19240 nsv459229 21 27465327 28404359 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536035 S 1557 1 0 LINC00113,LINC00314 1780862076_A nsv459231 21 27465586 27485366 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536036 S 1557 0 1 "" 1780854459_A nsv834070 21 27468616 27631821 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455572 S 95 1 0 "" nsv187036 21 27503648 27503699 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205614 M 24 "" esv270478 21 27517724 27518062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571611,essv2546538,essv2523016,essv2544050,essv2556567,essv2523362,essv2577496,essv2570365,essv2564640,essv2569343,essv2561513,essv2523688,essv2552886,essv2541143,essv2540532,essv2565172,essv2534540,essv2561077,essv2521970,essv2566031,essv2567948,essv2528817,essv2541628,essv2559005,essv2539302,essv2533658,essv2557726,essv2531323,essv2543238,essv2575456,essv2574979,essv2530430,essv2536325 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11840,NA11881,NA11931,NA11992,NA11994,NA12004,NA12043,NA12044,NA12751,NA18508,NA18523,NA18537,NA18542,NA18545,NA18552,NA18558,NA18561,NA18562,NA18571,NA18572,NA18577,NA18579,NA18592,NA18638,NA18912,NA18944,NA18953,NA18961,NA18965,NA19099,NA19102,NA19141 nsv913662 21 27554231 27624298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567711 S 6533 0 1 "" IS31137 nsv913663 21 27557842 27592051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517775 S 6533 0 1 "" SP57367 nsv913664 21 27565739 27586736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517862 S 6533 0 1 "" SP57379 esv273771 21 27580652 27581843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580147,essv2579100 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239 esv267523 21 27580699 27581828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493809,essv2500152,essv2512663,essv2509998,essv2507091,essv2504949,essv2497897,essv2505680,essv2498958,essv2497462,essv2499835,essv2512034 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18573,NA18577,NA18593,NA18870,NA18942,NA18945,NA19005,NA19114,NA19147,NA19225,NA19238 nsv913665 21 27592051 27634289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564162,nssv1554092 M 6533 0 2 "" IS30171,MS20612 nsv913666 21 27609521 27732847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534327 S 6533 0 1 "" MS11547 nsv507922 21 27654884 27660884 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620697,nssv619280 M 4 2 0 "" NA10860,NA15510 esv1006855 21 27692285 27692819 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586963 S 3 1 0 "" HuRef nsv913667 21 27720574 27809228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570517 S 6533 0 1 "" IS32150 nsv834071 21 27728782 27910751 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455573 S 95 1 0 "" nsv913668 21 27743764 27790008 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546256 S 6533 0 1 "" MS17114 esv2476373 21 27758619 27760205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176286 S 1 0 1 "" NA18507 esv259898 21 27788575 27788868 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396738,essv2399052,essv2397601,essv2399947,essv2398679,essv2397826,essv2399256,essv2396509,essv2395491,essv2397173,essv2400402,essv2400179,essv2399127,essv2399410,essv2398138,essv2397161,essv2397002,essv2401003,essv2395161,essv2396400,essv2397217 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10851,NA12044,NA12156,NA12489,NA18505,NA18508,NA18517,NA18563,NA18572,NA18592,NA18608,NA18609,NA18858,NA18949,NA18951,NA18973,NA19099,NA19108,NA19138,NA19225 esv1000802 21 27788668 27788668 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576618 S 3 1 0 "" HuRef esv1583684 21 27788760 27788760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248024 S 2 1 0 "" HuRef esv2423748 21 27823690 27825311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227518 S 1 0 1 "" NA18507 esv2436483 21 27842250 27843865 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375327 S 1 0 1 "" NA18507 nsv913669 21 27853958 27903424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577179 S 6533 1 0 "" IS34381 dgv533n27 21 27907420 27915809 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459233,nsv459232 M 1557 0 2 "" 1780846030_A,1780862074_A nsv520685 21 27907420 27915809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675027,nssv685560,nssv674055 M 2026 0 3 "" esv1237992 21 27921508 27921508 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121259 S 2 1 0 "" HuRef nsv913670 21 27944136 28447638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551658 S 6533 1 0 LINC00113,LINC00314 MS18966 nsv913671 21 28080766 28246805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539464 S 6533 1 0 "" MS14334 esv1000850 21 28130333 28130333 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582876 S 3 1 0 "" HuRef nsv834072 21 28250941 28415662 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455574 S 95 0 1 LINC00314 esv2370657 21 28376742 28377200 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813355 S 1 0 1 "" NA18507 nsv522198 21 28434457 28670848 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694971 S 2026 1 0 "" nsv828855 21 28464975 28465506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426324 S 31 1 0 "" AK4 esv268214 21 28477063 28477383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519095 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv507923 21 28486233 28492233 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619281,nssv623316,nssv617955 M 4 3 0 "" CHM,NA10860,NA18994 nsv459234 21 28605334 28761264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536039 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01162 esv2588680 21 28634056 28636519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245640 S 1 0 1 "" NA18507 esv2251945 21 28634726 28636187 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715489 S 1 0 1 "" NA18507 dgv716n67 21 28634765 28636007 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828857,nsv828858,nsv828859,nsv828856 M 31 0 21 "" AK12,AK14,AK16,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18969,NA18972,NA18999 esv27655 21 28634843 28636034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17999 S 451 0 1 "" NA19129 esv3941 21 28634864 28636121 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26382 S 1 0 1 Single Asian sample YH "" YH esv8386 21 28634891 28636036 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30827 S 1 0 1 "" SJK esv1197225 21 28732444 28732444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013449 S 2 1 0 "" HuRef nsv3484 21 28754394 28788415 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3072 S 9 1 0 "" NA18555 nsv913672 21 28821631 28921841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572967 S 6533 0 1 LINC00161 IS33196 esv1368266 21 28875672 28875672 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626453 S 2 1 0 "" HuRef esv275545 21 28896168 28900126 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585115 S 1250 0 1 "" esv275518 21 28962382 28965830 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585299 S 1250 0 1 "" nsv187168 21 28967850 28968107 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205746 M 24 "" nsv913673 21 29002704 29041493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539551 S 6533 0 1 "" MS14359 esv8779 21 29028161 29028234 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31220 S 1 1 0 "" SJK nsv521545 21 29037770 29056670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698161 S 2026 0 1 "" nsv523748 21 29046541 29054948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699565 S 2026 0 1 "" nsv527476 21 29050466 29054948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703920 S 2026 0 1 "" esv2649144 21 29073892 29075332 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250980 S 1 0 1 "" NA18507 esv4773 21 29074496 29074930 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27214 S 1 0 1 Single Asian sample YH "" YH esv275115 21 29094261 29100303 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586041,essv2586123 M 1250 1 1 "" nsv9862 21 29136621 29189127 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25765,nssv26204 M 31 2 0 Samples from several populations that are part of the HapMap project. N6AMT1 NA18537,NA19007 esv2503667 21 29155989 29157723 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177413 S 1 0 1 "" NA18507 esv1925565 21 29156369 29156982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830788 S 1 0 1 "" NA18507 esv2563962 21 29156548 29156857 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334614 S 1 0 1 "" NA18507 dgv1371e1 21 29161064 29191388 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2921,esv1337 M 271 0 0 N6AMT1 NA19007 esv992287 21 29180700 29189447 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564708 S 3 0 1 "" HuRef esv2465277 21 29184901 29186658 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210609 S 1 0 1 "" NA18507 nsv512636 21 29185368 29186464 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625251 S 1 0 1 "" 1 esv8083 21 29185430 29186167 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30524 S 1 0 1 "" SJK esv1467310 21 29185517 29186066 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728092 S 2 0 1 "" HuRef esv993752 21 29245232 29245684 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587239 S 3 0 1 LTN1 HuRef nsv513570 21 29303440 29304062 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626822 S 1 1 0 RWDD2B 1 esv1501473 21 29304695 29304695 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008075 S 2 1 0 RWDD2B HuRef esv1730794 21 29305993 29305993 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745063 S 2 1 0 RWDD2B HuRef nsv3485 21 29362314 29407057 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7712 S 9 0 1 C21orf7,CCT8 NA12156 nsv3486 21 29378851 29414146 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1622 S 9 1 0 C21orf7 NA19240 nsv187427 21 29407822 29412380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206005 M 24 C21orf7 nsv509792 21 29409445 29417110 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619856,nssv621135,nssv623834,nssv618140 M 4 4 0 C21orf7 CHM,NA10860,NA15510,NA18994 nsv516083 21 29411171 29416121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677579,nssv678030,nssv666107 M 2026 0 3 C21orf7 nsv521462 21 29452563 29464331 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698072 S 2026 1 0 C21orf7 esv998469 21 29473874 29474451 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563552 S 3 0 1 "" HuRef esv2161614 21 29473904 29474624 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819023 S 1 0 1 "" NA18507 esv4868 21 29474047 29474542 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27309 S 1 0 1 Single Asian sample YH "" YH esv1453512 21 29474096 29474450 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645290 S 2 0 1 "" HuRef esv7979 21 29474096 29474470 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30420 S 1 0 1 "" SJK esv2613286 21 29523175 29524731 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322875 S 1 0 1 LINC00189 NA18507 esv2104452 21 29523506 29524224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905616 S 1 0 1 LINC00189 NA18507 esv4889 21 29523604 29524273 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27330 S 1 0 1 Single Asian sample YH LINC00189 YH esv1782983 21 29523696 29524036 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623828 S 2 0 1 LINC00189 HuRef nsv187074 21 29523697 29524036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205652 M 24 LINC00189 esv5762 21 29523731 29524028 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28203 S 1 0 1 LINC00189 SJK nsv3488 21 29540272 29584664 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4662 S 9 0 1 LINC00189 NA19129 nsv834073 21 29681011 29848029 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455575 S 95 1 0 GRIK1 nsv828860 21 29762484 29763400 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436284 S 31 0 1 "" NA18566 nsv913674 21 29812765 29910107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565102 S 6533 0 1 GRIK1,GRIK1-AS2 IS30363 esv1004829 21 29870746 29870911 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565629 S 3 1 0 GRIK1 HuRef nsv528222 21 29879378 29880620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704783 S 2026 0 1 GRIK1 esv28655 21 29908948 29909468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11806 S 451 0 2 GRIK1,GRIK1-AS2 NA19099,NA19190 esv1010713 21 29972164 29982082 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563927 S 3 0 1 GRIK1 HuRef nsv913675 21 30023145 30211802 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562875 S 6533 1 0 GRIK1,GRIK1-AS1 MS25756 nsv834074 21 30059098 30270134 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455576 S 95 0 1 GRIK1 esv2540796 21 30210202 30211238 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309350 S 1 1 0 GRIK1 NA18507 esv269135 21 30210837 30211210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512532,essv2511788,essv2505235,essv2495538 M 157 4 0 Samples from several populations that are part of the HapMap project. GRIK1 NA18489,NA18499,NA18853,NA18916 nsv470898 21 30211802 30353182 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544779 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRIK1 HGDP01185 nsv459235 21 30211802 30475284 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536040 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLDN17,GRIK1 HGDP01185 esv27684 21 30214301 30215295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18678 S 451 0 2 GRIK1 NA18505,NA18508 nsv834075 21 30235546 30395434 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455577 S 95 0 1 "" esv268895 21 30322406 30322517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510231,essv2504452,essv2503407,essv2502504,essv2493340 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11993,NA12716,NA12750,NA12776 esv267896 21 30333429 30333519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557823,essv2521397,essv2570795,essv2520686,essv2529071,essv2558640,essv2576344 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA11993,NA12716,NA12749,NA12750,NA12814 nsv913676 21 30339015 30375755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503228 S 6533 1 0 "" SP52008 esv997049 21 30504461 30504604 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569985 S 3 0 1 LINC00307 HuRef esv1036685 21 30504461 30504605 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743984 S 2 0 1 LINC00307 HuRef nsv834076 21 30510691 30677617 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455578 S 95 1 0 KRTAP13-2,KRTAP23-1,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,MIR4327 nsv507924 21 30541344 30547344 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621977,nssv620698,nssv623317 M 4 3 0 "" NA10860,NA15510,NA18994 esv1291922 21 30546852 30546852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656053 S 2 1 0 "" HuRef esv273401 21 30553748 30553888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580318,essv2580776,essv2579376,essv2579733 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv267976 21 30553794 30553980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507991,essv2509891,essv2496525,essv2501194,essv2505266,essv2507406,essv2509509,essv2512047,essv2511504 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12003,NA18508,NA18510,NA18516,NA18853,NA18912,NA19129,NA19238 esv34362 21 30559029 30564300 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979935,essv6979936 M 771 0 1 "" NA18861 nsv459236 21 30559173 30574043 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536041 S 1557 0 1 "" 1782681092_A nsv523122 21 30559173 30574043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698822 S 2026 0 1 "" esv2564703 21 30560276 30564576 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162210 S 1 0 1 "" NA18507 esv2478917 21 30560551 30567265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220250 S 1 0 1 "" NA18507 esv2280404 21 30560826 30566701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881661 S 1 0 1 "" NA18507 esv25390 21 30560997 30566123 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21241 S 451 0 2 "" NA18861,NA18916 nsv442495 21 30561523 30564727 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422084 21 30562099 30564727 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027771,essv5069930,essv5137551,essv5121608,essv5093130,essv5119533,essv5048598,essv5127060,essv5157628,essv5069861,essv5027392,essv5024465,essv5072474,essv5075099,essv5084879,essv5006683,essv5137715,essv5118361,essv5055239,essv5100079,essv5120691,essv5054956,essv5147621,essv5116459,essv5002422,essv5010900 M 1184 0 26 "" NA18509,NA18852,NA18854,NA18861,NA18863,NA18916,NA18930,NA19041,NA19107,NA19119,NA19120,NA19122,NA19123,NA19137,NA19248,NA19256,NA19307,NA19379,NA19429,NA19438,NA19703,NA19705,NA19708,NA19834,NA20357,NA20358 nsv514955 21 30562608 30564720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628363 S 1414 0 1 "" esv268442 21 30603892 30604095 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494134,essv2494681,essv2499006,essv2509451,essv2499605 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18519,NA19114,NA19129,NA19225 nsv517100 21 30604450 30604793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658658,nssv670558,nssv664407,nssv680192,nssv693013,nssv665710,nssv663561,nssv682986,nssv681467,nssv677195,nssv660489,nssv651984,nssv653788,nssv661230,nssv663152,nssv655036,nssv661152 M 2026 0 17 "" esv2113329 21 30713738 30714154 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500394 S 1 0 1 "" NA18507 nsv913677 21 30821631 31034808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561565 S 6533 0 1 KRTAP19-6,KRTAP19-7,KRTAP20-1,KRTAP20-2,KRTAP20-3,KRTAP20-4,KRTAP21-3,KRTAP22-1,KRTAP22-2,KRTAP6-1,KRTAP6-2,KRTAP6-3 MS25099 nsv513571 21 30865015 30865624 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626823 S 1 1 0 "" 1 esv997714 21 30971560 30981375 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563535 S 3 0 1 "" HuRef nsv459237 21 31008194 31146805 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536042 S 1557 1 0 KRTAP21-1,KRTAP21-2,KRTAP21-3,KRTAP7-1,KRTAP8-1 1780854261_A esv1976750 21 31014554 31015194 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885358 S 1 0 1 "" NA18507 esv5413 21 31014684 31015068 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27854 S 1 0 1 Single Asian sample YH "" YH nsv187250 21 31014747 31014992 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205828 M 24 "" esv2504362 21 31036154 31036942 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209915 S 1 1 0 "" NA18507 esv1558229 21 31036632 31036632 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063691 S 2 1 0 "" HuRef esv2639928 21 31052651 31053987 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281743 S 1 0 1 "" NA18507 nsv834077 21 31052692 31215768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455579 S 95 1 0 KRTAP11-1,KRTAP7-1,KRTAP8-1 nsv518454 21 31136526 31221754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694238 S 2026 0 1 KRTAP11-1 nsv828861 21 31138018 31138550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428766 S 31 0 1 "" AK10 nsv834078 21 31141846 31308696 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455580 S 95 1 0 KRTAP11-1 nsv528253 21 31142977 31146805 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704819 S 2026 1 0 "" nsv517146 21 31262770 31268708 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690762,nssv673512,nssv653867,nssv653260,nssv680749 M 2026 0 5 "" nsv524313 21 31268708 31284249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700215 S 2026 0 1 "" nsv527158 21 31287785 31300348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703551 S 2026 0 1 "" nsv3489 21 31298244 31318359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3073 S 9 1 0 "" NA18555 esv33508 21 31336274 31337088 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98860 S 51 0 1 "" 21606 esv32755 21 31337700 31424326 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93294 S 51 1 0 TIAM1 22170 esv22805 21 31354018 31356250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10802 S 451 0 2 "" NA19108,NA19147 esv2422094 21 31354121 31356175 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5113399,essv5124164,essv5055700,essv5118036,essv5051912,essv5153818,essv5111386,essv5023686,essv5104519,essv5012890,essv5062811,essv5089578,essv5086246,essv5120916,essv5025810,essv5077819,essv5035813,essv5120381,essv5014765,essv5075820,essv5085301,essv5072169,essv5044948,essv5129309,essv5131497,essv5016236,essv5029614,essv5127404,essv5090479,essv5160930,essv5146651,essv5064114,essv5004479,essv5057427,essv5074039,essv5032893,essv5123624,essv5123857 M 1184 0 38 "" NA19036,NA19095,NA19101,NA19108,NA19109,NA19147,NA19148,NA19200,NA19202,NA19235,NA19315,NA19321,NA19346,NA19376,NA19380,NA19381,NA19382,NA19430,NA19431,NA19451,NA19452,NA19675,NA19677,NA19679,NA19680,NA19704,NA19708,NA19714,NA19919,NA19982,NA20334,NA20340,NA21368,NA21417,NA21528,NA21577,NA21587,NA21650 nsv442496 21 31354121 31356175 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514956 21 31354232 31356128 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628364 S 1414 0 1 "" esv271849 21 31363764 31364071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496789,essv2504239,essv2507316,essv2509414,essv2510514 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18505,NA18912,NA19129,NA19172 esv9621 21 31384150 31384233 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32062 S 1 1 0 "" SJK nsv819990 21 31590038 31592237 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419399 S 2 0 1 TIAM1 AK1 nsv828862 21 31590086 31592028 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427977,nssv1431062 M 31 0 2 TIAM1 AK8,NA18968 nsv459238 21 31673618 31697210 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536043 S 1557 1 0 TIAM1 1798860306_A nsv828863 21 31674659 31677274 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435597 S 31 0 1 TIAM1 NA18942 nsv913678 21 31697210 31906058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530184 S 6533 0 1 TIAM1 MS10228 nsv525026 21 31737828 31749567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701066 S 2026 0 1 TIAM1 nsv913679 21 31740623 31887245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549525 S 6533 1 0 TIAM1 MS18256 nsv519899 21 31803559 31985225 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697114 S 2026 1 0 SCAF4,SOD1,TIAM1 esv1536810 21 31838498 31838606 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726880 S 2 0 1 TIAM1 HuRef nsv3490 21 31874024 31911235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7713 S 9 0 1 "" NA12156 nsv507925 21 31885059 31891059 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620699 S 4 1 0 "" NA15510 nsv834079 21 31898817 32075731 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455581 S 95 0 1 SCAF4,SOD1 esv270716 21 31972683 31973010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548325,essv2551976,essv2559527,essv2528322,essv2540671 M 157 5 0 Samples from several populations that are part of the HapMap project. SCAF4 NA12045,NA12489,NA12776,NA12891,NA18552 esv273551 21 31972689 31973034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581025 S 7 1 0 Samples from several populations that are part of the HapMap project. SCAF4 NA19238 esv992169 21 31975769 31976759 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586974 S 3 1 0 SCAF4 HuRef nsv820180 21 31978580 31979388 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419089 S 2 1 0 SCAF4 AK1 nsv510792 21 31987852 32055149 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622799,nssv619015 M 4 0 2 SCAF4 NA10860,NA18994 esv2520415 21 31990945 31992480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185736 S 1 0 1 SCAF4 NA18507 nsv834081 21 32034431 32203364 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455582 S 95 0 1 HUNK nsv3491 21 32074432 32108026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7714 S 9 1 0 "" NA12156 esv9509 21 32078809 32079517 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31950 S 1 0 1 "" SJK nsv834082 21 32080140 32266308 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455588,nssv1455585,nssv1455586,nssv1455583,nssv1455584,nssv1455593,nssv1455589,nssv1455592,nssv1455594,nssv1455587,nssv1455591,nssv1455590 M 95 12 0 HUNK nsv510793 21 32123128 32207067 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622800 S 4 0 1 HUNK NA18994 nsv187351 21 32147676 32147934 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205929 M 24 "" dgv1372e1 21 32151463 32438711 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11586,essv16851,esv135 M 271 0 0 HUNK,LINC00159 NA19173,NA19205 esv2070504 21 32162315 32162740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741451 S 1 0 1 "" NA18507 nsv913680 21 32164396 32205623 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558936 S 6533 1 0 HUNK MS23628 esv2060229 21 32213068 32213455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4561067 S 1 0 1 HUNK NA18507 esv998414 21 32213139 32213194 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584136 S 3 0 1 HUNK HuRef esv1172635 21 32213178 32213234 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205834 S 2 0 1 HUNK HuRef nsv3492 21 32236454 32268082 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5898 S 9 1 0 HUNK NA19129 nsv518119 21 32244690 32250400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695536 S 2026 0 1 HUNK nsv913681 21 32304363 32346403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524238 S 6533 0 1 "" SP54930 esv270250 21 32307390 32307734 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510796,essv2504176,essv2509786,essv2496206,essv2494707,essv2509110,essv2505373,essv2505923,essv2509218,essv2495613,essv2501479,essv2504679,essv2506718,essv2499145,essv2497092,essv2501759,essv2498246 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18508,NA18511,NA18519,NA18522,NA18853,NA18861,NA18909,NA18916,NA19093,NA19099,NA19108,NA19114,NA19190,NA19239,NA19240 esv273904 21 32307401 32307662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580545 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv274620 21 32320318 32320500 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580447 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv270315 21 32320372 32320697 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575972,essv2541004,essv2546400,essv2526247,essv2542224,essv2556772,essv2577218,essv2570502,essv2554171,essv2552115,essv2558394,essv2564224,essv2530625,essv2561933,essv2528585,essv2530501,essv2578645,essv2558764,essv2527056,essv2544577,essv2523890,essv2541199,essv2561223,essv2539801,essv2549523,essv2519702,essv2559958,essv2522072,essv2566330,essv2531236,essv2570219,essv2541923,essv2551089,essv2562536,essv2534105,essv2578352,essv2533623,essv2555565,essv2567194,essv2566607,essv2529842,essv2555872,essv2522462,essv2573565,essv2577053,essv2572157,essv2524032,essv2568466,essv2549895,essv2551568,essv2547734 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11830,NA11831,NA11881,NA11918,NA11919,NA11994,NA12043,NA12044,NA12287,NA12489,NA12750,NA12828,NA12873,NA12874,NA12891,NA18486,NA18510,NA18516,NA18522,NA18526,NA18537,NA18545,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18593,NA18856,NA18858,NA18909,NA18916,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18956,NA18960,NA18964,NA18970,NA18973,NA19129,NA19147,NA19225,NA19257 esv1218870 21 32324831 32324831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826012 S 2 1 0 "" HuRef esv2751926 21 32341500 32385717 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986278,essv6982833,essv6982834 M 771 1 0 LINC00159 BEC_603 nsv834083 21 32351571 32513960 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455596,nssv1455595 M 95 2 0 LINC00159 nsv510794 21 32414308 32521043 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622801 S 4 0 1 "" NA18994 nsv507926 21 32416485 32422485 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620700,nssv621978 M 4 2 0 "" NA10860,NA15510 nsv3493 21 32428565 32473700 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5899 S 9 0 1 "" NA19129 nsv834084 21 32473892 32674799 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455597 S 95 1 0 MIS18A,MRAP,SNORA80,URB1 esv28556 21 32478339 32479114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12542 S 451 0 1 "" NA18858 nsv828865 21 32530880 32531907 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435598 S 31 0 1 "" NA18942 nsv187213 21 32554278 32557989 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205791 M 24 "" nsv510795 21 32566917 32676490 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619016 S 4 0 1 MIS18A,MRAP,SNORA80,URB1 NA10860 esv23692 21 32594626 32595129 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10674 S 451 0 1 MRAP NA18508 esv1007564 21 32594831 32594831 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580553 S 3 1 0 MRAP HuRef esv1730259 21 32594877 32594877 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177874 S 2 1 0 MRAP HuRef nsv187437 21 32594878 32594878 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206015 M 24 MRAP nsv834085 21 32616929 32813288 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455598 S 95 1 0 C21orf119,C21orf63,SNORA80,URB1 esv272059 21 32655560 32658995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505118,essv2503784,essv2494551 M 157 3 0 Samples from several populations that are part of the HapMap project. URB1 NA11995,NA12761,NA18550 nsv518458 21 32687431 32696655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695895 S 2026 0 1 C21orf119 nsv3494 21 32695937 32730494 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3074 S 9 1 0 C21orf63 NA18555 nsv187413 21 32766834 32774482 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205991 M 24 C21orf63 nsv187110 21 32771918 32771998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205688 M 24 C21orf63 esv1348711 21 32771960 32772084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693321 S 2 0 1 C21orf63 HuRef esv1162904 21 32777181 32777181 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003337 S 2 1 0 C21orf63 HuRef nsv187017 21 32777182 32777182 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205595 M 24 C21orf63 nsv913682 21 32785117 32845743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592875 S 6533 1 0 C21orf63 IS39258 dgv4730n71 21 32785117 32893303 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913684,nsv913683,nsv913689 M 6533 3 0 C21orf63,TCP10L IS37734,IS39426,IS40227 dgv4731n71 21 32785117 32930403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913687,nsv913686,nsv913690,nsv913688,nsv913685 M 6533 8 0 C21orf59,C21orf63,SYNJ1,TCP10L IS30109,IS31338,IS33738,IS34772,IS38665,IS39627,MS15679,MS25842 nsv913691 21 32814129 32878233 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589449 S 6533 1 0 TCP10L IS38356 dgv4732n71 21 32814129 32930403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913693,nsv913692,nsv913695 M 6533 3 0 C21orf59,SYNJ1,TCP10L IS37683,IS39408,IS40004 nsv3495 21 32817350 32862406 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7716 S 9 0 1 "" NA12156 dgv4733n71 21 32824798 32881592 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913694,nsv913696 M 6533 2 0 TCP10L IS32518,IS36798 nsv913697 21 32834253 32861558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555435 S 6533 0 1 "" MS21325 nsv438321 21 32879705 32880218 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470800 S 269 0 1 Samples from several populations that are part of the HapMap project. TCP10L NA18945 dgv717n67 21 32880306 32881356 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828866,nsv828867 M 31 0 3 "" AK16,NA18582,NA18999 nsv821090 21 32880306 32881356 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420123 S 1 1 0 "" NA10851 nsv834086 21 33004630 33177704 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455599,nssv1455600 M 95 0 2 C21orf49,C21orf62,GCFC1,GCFC1-AS1,SYNJ1 esv2268996 21 33065897 33066335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4535811 S 1 0 1 C21orf49,GCFC1 NA18507 nsv509793 21 33067866 33142884 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621136 S 4 1 0 C21orf49,C21orf62 NA15510 nsv3496 21 33125650 33131721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1623 S 9 1 0 "" NA19240 nsv513572 21 33127198 33127486 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626824 S 1 1 0 "" 1 esv1185126 21 33127449 33127449 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954228 S 2 1 0 "" HuRef nsv520925 21 33315815 33327805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687408,nssv682329,nssv677737 M 2026 0 3 OLIG2 esv259707 21 33326548 33336334 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395517 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv913698 21 33428176 33466779 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593573 S 6533 1 0 C21orf54 IS39450 esv2651195 21 33450754 33451728 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266037 S 1 1 0 "" NA18507 esv1001680 21 33451046 33451046 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581639 S 3 1 0 "" HuRef esv1158483 21 33451049 33451049 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346820 S 2 1 0 "" HuRef esv5717 21 33481124 33482164 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28158 S 1 0 0 "" SJK dgv4734n71 21 33511960 33529740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913700,nsv913701,nsv913699 M 6533 0 3 IFNAR2 SP51109,SP54684,SP54956 esv2561799 21 33514799 33516201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256751 S 1 0 1 "" NA18507 dgv4735n71 21 33516748 33528504 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913703,nsv913704,nsv913702 M 6533 0 6 IFNAR2 SP54042,SP54043,SP54725,SP54988,SP55019,SP55021 nsv913705 21 33521762 33530495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515583 S 6533 0 1 IFNAR2 SP56223 nsv913706 21 33522891 33527154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508232,nssv1508875,nssv1509686 M 6533 0 3 IFNAR2 SP54621,SP54672,SP54937 esv990908 21 33533969 33534030 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574209 S 3 0 1 IFNAR2 HuRef dgv4736n71 21 33539959 33551045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913707,nsv913711,nsv913708 M 6533 0 3 IFNAR2 SP51037,SP55878,SP56047 nsv913709 21 33540183 33547283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500680 S 6533 0 1 IFNAR2 SP50530 dgv4737n71 21 33540183 33557803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913710,nsv913712,nsv913713 M 6533 0 4 IFNAR2 SP50649,SP51145,SP52094,SP57472 nsv913714 21 33547433 33579551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503587 S 6533 1 0 IFNAR2,IL10RB,LOC100288432 SP52077 nsv913715 21 33560281 33570387 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519447 S 6533 0 1 IL10RB,LOC100288432 SP81036 nsv913716 21 33560729 33577493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501136 S 6533 0 1 IL10RB SP51061 nsv913717 21 33565952 33575536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505289 S 6533 1 0 IL10RB SP53347 nsv913718 21 33571676 33588030 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508243 S 6533 1 0 IL10RB SP54620 nsv913719 21 33575100 33581553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505271 S 6533 0 1 IL10RB SP53347 nsv913720 21 33578995 33584581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503527 S 6533 0 1 IL10RB SP52077 nsv509794 21 33592333 33618334 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619858,nssv623835 M 4 2 0 "" NA10860,NA18994 esv29899 21 33615588 33618595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16373,esv20467 M 451 0 18 "" NA06985,NA07045,NA11894,NA11993,NA12004,NA12044,NA12489,NA12776,NA12828,NA18502,NA18508,NA18517,NA18909,NA18916,NA19099,NA19129,NA19225,NA19240 nsv820575 21 33615588 33618595 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420124 S 1 0 1 "" NA10851 esv1652674 21 33616784 33616784 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3822400 S 2 1 0 "" HuRef nsv834087 21 33620065 33763179 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455601 S 95 1 0 IFNAR1,IFNGR2,TMEM50B esv268656 21 33638636 33638721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518041,essv2514278 M 157 2 0 Samples from several populations that are part of the HapMap project. IFNAR1 NA12872,NA12874 dgv4738n71 21 33645531 33650549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913722,nsv913721 M 6533 0 2 IFNAR1 SP56138,SP57314 nsv913723 21 33710556 33721929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503711 S 6533 0 1 IFNGR2 SP52094 nsv913724 21 33726836 33949012 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599468 S 6533 0 1 CRYZL1,DNAJC28,DONSON,GART,IFNGR2,ITSN1,SON,TMEM50B IS41634 nsv528264 21 33731877 33759656 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704832 S 2026 1 0 TMEM50B nsv3497 21 33743225 33782482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10311,nssv11044,nssv4554,nssv9604,nssv1624,nssv6955,nssv5900,nssv2346 M 9 8 0 DNAJC28,TMEM50B NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv524420 21 33749710 33786154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700346 S 2026 0 1 DNAJC28,TMEM50B nsv509795 21 33751453 33815251 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619859,nssv618141,nssv621137,nssv623836 M 4 4 0 DNAJC28,GART,TMEM50B CHM,NA10860,NA15510,NA18994 nsv191 21 33766723 33782482 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv191 S 1 1 0 DNAJC28,TMEM50B NA15510 esv1700579 21 33768967 33768967 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247861 S 2 1 0 TMEM50B HuRef esv1009907 21 33768979 33770699 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563960 S 3 1 0 TMEM50B HuRef nsv913725 21 33833431 33858598 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510417 S 6533 0 1 GART,SON SP54956 nsv522214 21 34153401 34154830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694990 S 2026 0 1 ITSN1 esv2419803 21 34170130 34170562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966750 S 1 0 1 ITSN1 NA18507 nsv438322 21 34190206 34191637 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470801,nssv470802 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10851,NA12763 esv24747 21 34305786 34309111 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13671 S 451 1 0 "" NA19257 esv2268922 21 34320645 34321010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000732 S 1 0 1 "" NA18507 esv28721 21 34367220 34368594 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13004 S 451 0 1 MRPS6,SLC5A3 NA07045 nsv438323 21 34402201 34403293 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470803 S 269 0 1 Samples from several populations that are part of the HapMap project. MRPS6 NA19098 nsv3499 21 34415848 34461141 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7717 S 9 0 1 MRPS6 NA12156 esv27350 21 34452459 34454968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14903 S 451 0 3 "" NA18861,NA19190,NA19257 nsv3500 21 34521720 34554366 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10312 S 9 1 0 "" NA18956 nsv834088 21 34535591 34673945 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455602 S 95 0 1 FAM165B,KCNE2 nsv509796 21 34554780 34656639 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623837 S 4 1 0 "" NA18994 nsv510796 21 34554780 34656639 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619017 S 4 0 1 "" NA10860 nsv520827 21 34660028 34663726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676036,nssv680587,nssv680113 M 2026 0 3 KCNE2 nsv521323 21 34678699 34809229 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697930 S 2026 1 0 FAM165B,KCNE1 esv2556463 21 34699710 34700632 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256439 S 1 1 0 "" NA18507 esv1412751 21 34700265 34700265 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292483 S 2 1 0 "" HuRef nsv523533 21 34854489 34863639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699308 S 2026 0 1 RCAN1 nsv913726 21 34860476 34895097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512054 S 6533 0 1 RCAN1 SP55265 nsv518782 21 34861283 34863428 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696236 S 2026 1 0 RCAN1 nsv817929 21 34863428 34863797 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417799 S 112 1 0 RCAN1 NA12264 nsv7345 21 34907213 34938303 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9368 S 9 0 0 RCAN1 NA18517 esv259544 21 34933107 34933359 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394141 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv3501 21 34937658 34968390 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2347 S 9 1 0 CLIC6 NA18555 nsv828868 21 34994632 34995334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431575,nssv1423067,nssv1424695 M 31 0 3 CLIC6 NA18552,NA18582,NA18947 dgv718n67 21 34994847 34995334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828870,nsv828869 M 31 0 4 CLIC6 AK6,AK8,NA18526,NA18969 esv993312 21 34994847 34995334 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586858 S 3 0 1 CLIC6 HuRef nsv459243 21 35045555 35079568 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536044 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506385 HGDP00773 esv24723 21 35182966 35184675 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19791 S 451 0 1 RUNX1 NA12489 nsv525427 21 35197309 35202246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701552 S 2026 0 1 RUNX1 esv2572743 21 35217338 35218796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391423 S 1 0 1 RUNX1 NA18507 esv2111887 21 35217660 35218247 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836278 S 1 0 1 RUNX1 NA18507 esv2483923 21 35217851 35218065 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260335 S 1 0 1 RUNX1 NA18507 esv1317413 21 35220673 35220744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647597 S 2 0 1 RUNX1 HuRef nsv913727 21 35262686 35306233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533345 S 6533 0 1 RUNX1 MS11105 nsv523592 21 35285430 35285972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699383 S 2026 0 1 RUNX1 esv34068 21 35304204 35704075 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C21orf96,RUNX1 nsv819446 21 35343506 35344307 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419086 S 2 1 0 "" AK1 nsv834089 21 35361415 35527719 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455603 S 95 1 0 "" nsv828871 21 35372844 35375099 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427198 S 31 0 1 "" AK6 esv21768 21 35483261 35487702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19213 S 451 0 1 "" NA18858 esv22985 21 35523151 35524232 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21152 S 451 0 1 "" NA07045 nsv524285 21 35652341 35663806 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700184 S 2026 1 0 "" esv1420046 21 35675055 35675055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069342 S 2 1 0 "" HuRef esv2460914 21 35681059 35682616 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193927 S 1 0 1 "" NA18507 nsv913728 21 35733029 35841755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582300 S 6533 1 0 "" IS35910 nsv913729 21 35743768 35904622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552269 S 6533 0 1 "" MS19303 nsv525295 21 35775387 35832534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701401 S 2026 0 1 "" nsv526395 21 35786327 35818066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702694 S 2026 0 1 "" nsv3502 21 35796771 35830203 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7718 S 9 1 0 "" NA12156 esv2475462 21 35820598 35821591 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382823 S 1 1 0 "" NA18507 nsv3503 21 35827720 35854952 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7719 S 9 0 1 "" NA12156 esv271378 21 35845613 35845963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504011 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv913730 21 35900550 36372453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582301 S 6533 1 0 CBR1,LOC100133286,MIR802,SETD4 IS35910 esv2615705 21 35935996 35937482 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220402 S 1 0 1 "" NA18507 esv2152006 21 35936626 35937234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876290 S 1 0 1 "" NA18507 nsv828872 21 35936731 35937200 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423068 S 31 1 0 "" NA18552 esv2910 21 35936766 35937204 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25351 S 1 0 1 Single Asian sample YH "" YH esv7304 21 35936807 35937034 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29745 S 1 0 1 "" SJK nsv471788 21 35936810 35937151 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646069 M 3.159 95 "" dgv107n6 21 35936834 35937039 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv187011,nsv187075 M 24 "" nsv527146 21 35938533 35979143 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703535 S 2026 1 0 "" nsv522199 21 35962518 36022910 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694972 S 2026 1 0 MIR802 nsv913731 21 35965755 35996835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578388 S 6533 0 1 "" IS34768 nsv459245 21 35969990 35995307 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536045 S 1557 0 1 "" NINDS_88 nsv459246 21 36029316 36121404 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536046 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01353 esv9708 21 36059964 36060019 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32149 S 1 1 0 "" SJK esv272015 21 36100388 36100473 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514297 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv7332 21 36111330 36111430 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29773 S 1 1 0 "" SJK esv273999 21 36159780 36159890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582010,essv2582301,essv2582940,essv2584227,essv2583479 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv270220 21 36159780 36160075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576008,essv2540722,essv2571637,essv2546522,essv2521245,essv2525913,essv2536597,essv2522668,essv2544016,essv2556655,essv2545261,essv2577410,essv2570611,essv2548509,essv2521509,essv2576889,essv2550627,essv2535063,essv2554091,essv2552106,essv2520293,essv2558257,essv2564339,essv2577963,essv2553768,essv2559760,essv2565287,essv2576394,essv2520083,essv2564149,essv2555000,essv2562114,essv2537706,essv2528589,essv2546981,essv2539983,essv2556987,essv2532158,essv2562799,essv2538925,essv2541370,essv2542899,essv2524744,essv2565101,essv2534679,essv2560974,essv2539884,essv2549396,essv2522162,essv2568059,essv2528975,essv2570350,essv2559316,essv2566837,essv2527881,essv2533808,essv2555555,essv2573794,essv2531340,essv2573648,essv2571978,essv2526763,essv2572738,essv2571217,essv2574317,essv2536250,essv2548769,essv2533331,essv2554750,essv2525167,essv2563221 M 157 71 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07357,NA10847,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12489,NA12716,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18501,NA18505,NA18507,NA18519,NA18545,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18571,NA18577,NA18579,NA18593,NA18638,NA18853,NA18907,NA18944,NA18945,NA18951,NA18961,NA18964,NA18973,NA19005,NA19143,NA19238,NA19240 nsv913732 21 36199730 36266950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598801 S 6533 0 1 "" IS41263 nsv828873 21 36216427 36221898 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431586 S 31 0 1 "" NA18947 esv1020164 21 36220285 36220285 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128001 S 2 1 0 "" HuRef esv270300 21 36242931 36243286 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513666 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv828874 21 36243677 36252736 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432590 S 31 0 1 "" AK20 nsv470899 21 36295592 36391146 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544780 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CBR1,LOC100133286,SETD4 HGDP01029 nsv459247 21 36297513 36382034 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536047 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CBR1,LOC100133286,SETD4 HGDP01029 nsv3504 21 36302129 36335057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5903 S 9 1 0 SETD4 NA19129 esv24272 21 36325076 36327482 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20012 S 451 0 3 "" NA11993,NA18502,NA19129 esv1004462 21 36348939 36349006 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582829 S 3 0 1 SETD4 HuRef esv2751927 21 36355635 36580379 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984021,essv6987477,essv6987478,essv6984022,essv6984023 M 771 1 0 CBR1,CBR3,DOPEY2,LOC100133286,LOC100506428 BEC_745 esv2751928 21 36398229 36544785 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988963,essv6985935,essv6985934,essv6985933,essv6985932 M 771 1 0 CBR3,DOPEY2,LOC100133286,LOC100506428 SPC_86 esv33643 21 36406113 36406558 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98605 S 51 0 1 LOC100133286 22085 esv33578 21 36410182 36741497 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98757,essv99815 M 51 0 2 CBR3,CHAF1B,DOPEY2,LOC100133286,LOC100506428,MORC3 21606,22086 nsv459249 21 36412525 36525523 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536048 S 1557 1 0 CBR3,DOPEY2,LOC100133286,LOC100506428 1780862261_A nsv913733 21 36420225 36433497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510418 S 6533 0 1 CBR3,LOC100133286,LOC100506428 SP54956 nsv516175 21 36420225 36539500 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662382,nssv691047,nssv684079,nssv683841,nssv673570,nssv666629 M 2026 6 0 CBR3,DOPEY2,LOC100133286,LOC100506428 esv1434184 21 36438808 36438979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110590 S 2 0 1 CBR3,LOC100506428 HuRef esv2456821 21 36509528 36510906 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231844 S 1 0 1 DOPEY2 NA18507 nsv510797 21 36514347 36608993 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620167 S 4 0 1 DOPEY2 NA15510 nsv913734 21 36539500 36640457 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582302 S 6533 1 0 DOPEY2,MORC3 IS35910 esv2338657 21 36597884 36598377 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703557 S 1 0 1 "" NA18507 nsv3505 21 36661247 36669941 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7720 S 9 0 1 MORC3 NA12156 nsv834090 21 36734415 36931412 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455605,nssv1455604 M 95 0 2 CLDN14 esv33286 21 36748886 36783426 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97533,essv99895 M 51 1 1 CLDN14 21616,22086 esv1979371 21 36786125 36786770 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670249 S 1 0 1 CLDN14 NA18507 esv7482 21 36786317 36786633 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29923 S 1 0 1 CLDN14 SJK nsv512637 21 36789797 36792713 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625252 S 1 0 1 CLDN14 1 nsv3506 21 36790033 36823866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5904 S 9 1 0 CLDN14 NA19129 esv2582352 21 36790259 36791749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279032 S 1 0 1 CLDN14 NA18507 esv28981 21 36844747 36860616 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13917 S 451 1 0 CLDN14 NA19129 nsv913735 21 36931813 37069472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531020 S 6533 0 1 HLCS,SIM2 MS10311 nsv913736 21 36978418 37051900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592479 S 6533 0 1 HLCS,SIM2 IS39233 nsv828876 21 36979650 37030060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435599 S 31 0 1 SIM2 NA18942 nsv913737 21 36991312 37028079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550018 S 6533 0 1 SIM2 MS18276 nsv519597 21 37029729 37043407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671528,nssv663734,nssv657005 M 2026 0 3 SIM2 nsv3507 21 37069002 37086441 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1625 S 9 0 1 HLCS NA19240 nsv498978 21 37073142 37079652 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585839 S 9 0 1 HLCS esv26519 21 37073145 37079597 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12168 S 451 0 1 HLCS NA19240 esv2751929 21 37092300 37354491 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981331,essv6981330,essv6985548,essv6985549,essv6981332 M 771 1 0 DSCR6,HLCS BEC_386 nsv510504 21 37145280 37151280 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618462 S 4 0 1 HLCS CHM nsv3508 21 37161392 37195097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7721 S 9 1 0 HLCS NA12156 nsv510505 21 37340680 37346680 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618463 S 4 0 1 "" CHM nsv3510 21 37348604 37380256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6956 S 9 1 0 PIGP,TTC3 NA12156 nsv3511 21 37417367 37432824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7722 S 9 1 0 TTC3 NA12156 dgv70n68 21 37429580 37632524 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834095,nsv834094 M 95 3 0 DSCR3,DSCR9,TTC3 esv268913 21 37432019 37432257 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511161,essv2495362,essv2511769,essv2504234,essv2493820,essv2505788,essv2506550,essv2499672 M 157 8 0 Samples from several populations that are part of the HapMap project. TTC3 NA11931,NA12287,NA18499,NA18505,NA18517,NA18861,NA19108,NA19225 nsv3512 21 37464335 37509623 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7723 S 9 0 1 DSCR9,TTC3 NA12156 nsv819934 21 37489474 37490172 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419062 S 2 1 0 TTC3 AK1 esv2625731 21 37544802 37544933 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335705 S 1 0 1 DSCR3 NA18507 nsv516817 21 37614244 37630751 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690258,nssv686226,nssv660355,nssv681486,nssv671153,nssv696307,nssv662232,nssv675567,nssv702786,nssv688811,nssv671670 M 2026 1 10 "" nsv528244 21 37624055 37632901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704806 S 2026 0 1 "" nsv520184 21 37630751 37632901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697268 S 2026 0 1 "" nsv834096 21 37722651 37903861 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455609 S 95 0 1 DYRK1A esv1001034 21 37765673 37774512 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565123 S 3 0 1 DYRK1A HuRef esv1940316 21 37883450 37883954 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729225 S 1 0 1 "" NA18507 esv1502047 21 37883585 37883867 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145037 S 2 0 1 "" HuRef nsv528055 21 37888392 37889900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704589 S 2026 0 1 "" nsv913738 21 37889900 38083235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554713 S 6533 1 0 KCNJ6 MS20919 esv267801 21 37926387 37926742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558103,essv2546546,essv2525857,essv2568315,essv2545488,essv2521720,essv2525325,essv2535168,essv2554113,essv2558486,essv2577695,essv2564012,essv2555149,essv2537710,essv2528191,essv2563002,essv2553021,essv2541391,essv2542880,essv2524365,essv2565142,essv2539678,essv2549593,essv2519527,essv2566006,essv2567578,essv2541836,essv2570214,essv2553222,essv2535891,essv2572526,essv2559288,essv2527844,essv2578174,essv2573185,essv2533665,essv2566634,essv2527683,essv2534422,essv2522468,essv2573440,essv2572053,essv2525723,essv2526817,essv2526392,essv2563264 M 157 46 0 Samples from several populations that are part of the HapMap project. KCNJ6 NA10847,NA10851,NA11881,NA11918,NA11995,NA12003,NA12144,NA12156,NA12249,NA12287,NA12750,NA12761,NA12828,NA12872,NA12878,NA12891,NA18532,NA18542,NA18545,NA18550,NA18555,NA18558,NA18563,NA18564,NA18566,NA18572,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18907,NA18940,NA18942,NA18944,NA18948,NA18952,NA18959,NA18960,NA18964,NA18973,NA18980,NA19005,NA19114 esv273059 21 37926387 37926742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582069,essv2582358 M 7 2 0 Samples from several populations that are part of the HapMap project. KCNJ6 NA12878,NA12891 esv1008565 21 37944518 37952421 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564595 S 3 0 1 KCNJ6 HuRef esv1076046 21 37971962 37971962 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192307 S 2 1 0 KCNJ6 HuRef esv1561266 21 37979708 37979708 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970034 S 2 1 0 KCNJ6 HuRef esv2611134 21 38001575 38002274 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183426 S 1 1 0 KCNJ6 NA18507 esv1381725 21 38001886 38001886 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074542 S 2 1 0 KCNJ6 HuRef esv2650741 21 38050262 38052024 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164197 S 1 0 1 KCNJ6 NA18507 esv26215 21 38050721 38051866 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13022 S 451 0 1 KCNJ6 NA19129 nsv187226 21 38118120 38118120 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205804 M 24 KCNJ6 esv1461344 21 38118121 38118121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339740 S 2 1 0 KCNJ6 HuRef esv1930202 21 38154885 38155291 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629505 S 1 0 1 KCNJ6 NA18507 nsv3513 21 38240241 38245438 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6957 S 9 1 0 "" NA12156 nsv523343 21 38247104 38248101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699092 S 2026 0 1 "" esv2469159 21 38353629 38354057 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258126 S 1 1 0 DSCR4 NA18507 nsv513573 21 38353714 38353844 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626825 S 1 1 0 DSCR4 1 esv2617743 21 38402409 38404096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301912 S 1 0 1 DSCR4 NA18507 esv4330 21 38403060 38403857 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26771 S 1 0 1 Single Asian sample YH DSCR4 YH esv1009477 21 38403217 38403586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577946 S 3 0 1 DSCR4 HuRef esv1674631 21 38403440 38403810 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837314 S 2 0 1 DSCR4 HuRef nsv834097 21 38405131 38499045 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455610 S 95 1 0 DSCR4,DSCR8 esv268329 21 38415519 38415868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510282,essv2510978,essv2511244,essv2500225,essv2505562,essv2495897,essv2508382,essv2493356,essv2494194,essv2504205,essv2506260,essv2505900,essv2504925,essv2503165,essv2497945,essv2493107,essv2505640,essv2501366,essv2506629,essv2499029,essv2509612,essv2503615,essv2503965 M 157 23 0 Samples from several populations that are part of the HapMap project. DSCR8 NA06986,NA07037,NA10851,NA11831,NA11931,NA12006,NA12154,NA12489,NA12749,NA12776,NA18502,NA18505,NA18523,NA18861,NA18942,NA18943,NA18945,NA18951,NA19005,NA19093,NA19108,NA19114,NA19129 nsv512638 21 38511179 38514481 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625253 S 1 0 1 "" 1 esv2517078 21 38511684 38513291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200811 S 1 0 1 "" NA18507 esv2048323 21 38512204 38512952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4866316 S 1 0 1 "" NA18507 esv3869 21 38512365 38512854 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26310 S 1 0 1 Single Asian sample YH "" YH esv997369 21 38512399 38512744 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571793 S 3 0 1 "" HuRef esv8647 21 38512410 38512749 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31088 S 1 0 1 "" SJK esv1132666 21 38512412 38512758 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165129 S 2 0 1 "" HuRef nsv3514 21 38543136 38574473 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5905 S 9 1 0 KCNJ15 NA19129 esv22065 21 38572998 38576993 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19784 S 451 0 1 KCNJ15 NA18907 esv33823 21 38573989 38576625 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94567 S 51 0 1 KCNJ15 21932 nsv819873 21 38593233 38593449 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419270 S 2 0 1 KCNJ15 AK1 nsv834098 21 38613768 38767124 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455611 S 95 1 0 ERG nsv3515 21 38672715 38702143 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4555 S 9 1 0 ERG NA12878 esv2852 21 38785688 38785928 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25293 S 1 0 1 Single Asian sample YH ERG YH nsv187113 21 38785760 38785864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205691 M 24 ERG esv2629526 21 38801372 38802094 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382516 S 1 1 0 ERG NA18507 esv1290531 21 38801829 38801829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082342 S 2 1 0 ERG HuRef esv2264168 21 38822044 38822745 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953237 S 1 0 1 ERG NA18507 nsv817930 21 38835017 38838626 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417080,nssv1417079 M 112 0 2 ERG NA07000,NA07029 esv2751930 21 38839050 38877931 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980678,essv6980679,essv6987832 M 771 0 1 ERG BEC_104 nsv3516 21 38850410 38858083 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7725 S 9 0 1 ERG NA12156 nsv187128 21 38879353 38881154 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205706 M 24 ERG esv21857 21 38895803 38897744 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15632 S 451 0 2 ERG NA18508,NA18907 esv28061 21 38971922 38973286 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16210 S 451 1 0 "" NA12044 nsv3517 21 39014435 39046153 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5906 S 9 1 0 LINC00114 NA19129 dgv4739n71 21 39025821 39083251 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913742,nsv913740,nsv913743,nsv913739 M 6533 40 0 LINC00114 IS30063,IS30278,IS30434,IS30467,IS31041,IS31317,IS31558,IS31563,IS31722,IS31825,IS31980,IS33262,IS33439,IS34019,IS35088,IS35253,IS36559,IS36766,IS36955,IS37523,IS37704,IS38115,IS38290,IS38367,IS38616,IS39326,IS39464,IS39863,IS39940,IS40004,IS40769,IS40942,IS40950,IS41562,MS13448,MS14805,MS16559,MS18911,MS20239,MS20627 nsv913741 21 39037914 39064724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566528 S 6533 1 0 LINC00114 IS30766 nsv470900 21 39037914 39074242 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544781 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00114 HGDP00582 dgv534n27 21 39037914 39078994 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459256,nsv459258,nsv459257,nsv459254,nsv459255 M 1557 5 0 LINC00114 HGDP00197,HGDP00206,HGDP00232,HGDP00445,HGDP00582 nsv516348 21 39037914 39083251 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667728,nssv687007 M 2026 2 0 LINC00114 nsv3518 21 39103330 39137496 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3075 S 9 1 0 ETS2 NA18555 esv2596489 21 39207676 39208312 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234809 S 1 1 0 "" NA18507 esv2626960 21 39265566 39267223 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323120 S 1 0 1 "" NA18507 esv1941131 21 39265999 39266688 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540339 S 1 0 1 "" NA18507 esv4192 21 39266102 39266557 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26633 S 1 0 1 Single Asian sample YH "" YH nsv3519 21 39287850 39304359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3076 S 9 1 0 "" NA18555 nsv3522 21 39416468 39424440 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4556 S 9 1 0 "" NA12878 nsv523900 21 39427896 39431059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699743 S 2026 0 1 "" esv2243510 21 39429797 39430140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810729 S 1 0 1 "" NA18507 nsv187394 21 39430004 39430085 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205972 M 24 "" nsv913744 21 39592037 39679843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586107 S 6533 0 1 BRWD1,BRWD1-IT2,HMGN1,WRB IS37646 esv2421785 21 39656593 39658882 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5122943,essv5082342,essv5052029,essv5059583,essv5060481,essv5002360,essv5022769,essv5064652,essv5099641,essv5108655,essv5069537,essv5048713,essv5121890,essv5016881,essv5002242,essv5101016,essv5131563,essv5113899,essv5125171,essv5033344 M 1184 0 20 "" NA18484,NA18486,NA19116,NA19141,NA19160,NA19161,NA19469,NA19900,NA19902,NA21363,NA21365,NA21366,NA21418,NA21486,NA21487,NA21494,NA21509,NA21513,NA21522,NA21576 nsv442497 21 39656792 39658882 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv270872 21 39661486 39661571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514269 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv25616 21 39736154 39738846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20340 S 451 0 1 LCA5L NA18858 dgv1373e1 21 39779393 39888026 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18488,esv1084 M 271 0 0 SH3BGR NA12156 esv34779 21 39806741 39899343 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990276,essv6978725,essv6978726,essv6978727,essv6978728 M 771 1 0 C21orf88,SH3BGR NA12156 nsv433457 21 39822218 39886423 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463338 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12156 esv27344 21 39840840 39887845 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17842 S 451 1 0 "" NA12156 esv1540769 21 39848749 39848831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985923 S 2 0 1 "" HuRef nsv9863 21 39873097 39875630 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27059 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12155 esv27418 21 39903510 39909353 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11702 S 451 1 0 C21orf88 NA12156 nsv834099 21 39998743 40127900 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455612 S 95 0 1 IGSF5 esv275236 21 40032152 40041281 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585793,essv2586094 M 1250 1 1 IGSF5 nsv828877 21 40040135 40040705 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434822 S 31 1 0 IGSF5 NA18570 esv26218 21 40124902 40130556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11797 S 451 0 1 "" NA19129 nsv3523 21 40181579 40215774 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7726 S 9 1 0 PCP4 NA12156 nsv3524 21 40243021 40277082 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1626,nssv4557 M 9 2 0 "" NA12878,NA19240 nsv509797 21 40261373 40278021 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619860,nssv621138 M 4 2 0 "" NA10860,NA15510 esv23472 21 40266339 40266894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14798 S 451 0 1 "" NA12878 esv28551 21 40268236 40268926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15481 S 451 0 1 "" NA19147 esv1760609 21 40268292 40268292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804871 S 2 1 0 "" HuRef nsv187309 21 40268293 40268293 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205887 M 24 "" nsv187425 21 40268352 40268352 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206003 M 24 "" nsv499388 21 40268352 40268948 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585620 S 9 1 0 "" nsv187161 21 40268485 40268573 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205739 M 24 "" nsv7346 21 40283354 40370154 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10313,nssv1627,nssv4558,nssv9369 M 9 0 0 DSCAM NA12878,NA18517,NA18956,NA19240 esv998773 21 40315000 40336452 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564195 S 3 0 0 DSCAM HuRef nsv513717 21 40316292 40331886 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626969 S 1 0 0 DSCAM 1 nsv436673 21 40320914 40325921 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465753 S 2 0 0 Samples from several populations that are part of the HapMap project. DSCAM NA18505 esv1433285 21 40321769 40331695 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326251 S 2 0 0 DSCAM HuRef nsv913745 21 40345216 40395436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598208 S 6533 0 1 DSCAM IS40890 esv272395 21 40373824 40374118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578918,essv2579746 M 7 2 0 Samples from several populations that are part of the HapMap project. DSCAM NA19239,NA19240 esv270840 21 40373902 40374165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521084,essv2577447,essv2570398,essv2535255,essv2544429,essv2551660,essv2532185,essv2562733,essv2569446,essv2539097,essv2561407,essv2523599,essv2552825,essv2541415,essv2565111,essv2549349,essv2519519,essv2522254,essv2566245,essv2532921,essv2563741,essv2553327,essv2559026,essv2542195,essv2568875,essv2578504,essv2573109,essv2566386,essv2527518,essv2522642,essv2576994,essv2525678,essv2529691,essv2575185,essv2538709,essv2574726,essv2568662,essv2545055,essv2560345,essv2548132,essv2545980,essv2548044,essv2563132 M 157 43 0 Samples from several populations that are part of the HapMap project. DSCAM NA07347,NA10847,NA11894,NA12043,NA12044,NA12249,NA12414,NA18504,NA18505,NA18507,NA18508,NA18519,NA18523,NA18537,NA18542,NA18545,NA18558,NA18564,NA18566,NA18571,NA18572,NA18576,NA18603,NA18605,NA18638,NA18856,NA18861,NA18940,NA18942,NA18948,NA18952,NA18960,NA18970,NA18980,NA19093,NA19102,NA19108,NA19138,NA19147,NA19172,NA19190,NA19210,NA19239 nsv523501 21 40389696 40401568 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699270 S 2026 1 0 DSCAM esv26953 21 40442959 40443680 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14552 S 451 0 2 DSCAM NA18502,NA19257 esv4745 21 40442966 40443873 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27186 S 1 0 1 Single Asian sample YH DSCAM YH nsv3525 21 40458284 40491292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4559 S 9 1 0 DSCAM NA12878 nsv820759 21 40476101 40477024 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420125 S 1 0 1 DSCAM NA10851 esv29266 21 40476356 40477024 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16715 S 451 2 9 DSCAM NA06985,NA07037,NA11995,NA12489,NA15510,NA18502,NA18517,NA19108,NA19129,NA19147,NA19240 nsv913746 21 40476645 40503554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583684 S 6533 0 1 DSCAM IS36591 nsv513574 21 40476861 40477094 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626826 S 1 1 0 DSCAM 1 nsv519745 21 40497028 40500245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697027 S 2026 0 1 DSCAM esv33309 21 40498322 40498993 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94227 S 51 1 0 DSCAM 22394 esv2399855 21 40508547 40509261 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927657 S 1 0 1 DSCAM NA18507 esv1290970 21 40508749 40509074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736658 S 2 0 1 DSCAM HuRef nsv510506 21 40554290 40560290 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621508 S 4 0 1 DSCAM NA15510 esv267936 21 40577723 40577849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493276,essv2493687,essv2494819,essv2497701 M 157 4 0 Samples from several populations that are part of the HapMap project. DSCAM NA18504,NA18517,NA18519,NA19147 esv25266 21 40592263 40596079 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12748 S 451 0 1 DSCAM NA19190 esv2519317 21 40641762 40642220 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370500 S 1 1 0 DSCAM NA18507 nsv834100 21 40647059 40865029 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455613,nssv1455614 M 95 2 0 DSCAM,DSCAM-AS1 nsv528658 21 40665509 40682287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705292 S 2026 0 1 DSCAM,DSCAM-AS1 nsv520586 21 40666871 40677279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672846,nssv684507 M 2026 0 2 DSCAM,DSCAM-AS1 esv2555910 21 40733326 40734914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365980 S 1 0 1 DSCAM NA18507 esv4711 21 40734090 40734727 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27152 S 1 0 1 Single Asian sample YH DSCAM YH nsv187207 21 40734314 40734558 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205785 M 24 DSCAM esv2363998 21 40792319 40792718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948017 S 1 0 1 DSCAM NA18507 esv1606716 21 40792472 40792532 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953606 S 2 0 1 DSCAM HuRef nsv187221 21 40799257 40805787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205799 M 24 DSCAM esv1285936 21 40812192 40812192 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993607 S 2 1 0 DSCAM HuRef nsv187130 21 40822719 40830197 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205708 M 24 DSCAM esv268811 21 40876440 40876525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514700 S 157 1 0 Samples from several populations that are part of the HapMap project. DSCAM NA11840 esv1942233 21 40878951 40879432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628242 S 1 0 1 DSCAM NA18507 esv2601819 21 40879130 40879248 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265940 S 1 0 1 DSCAM NA18507 nsv187086 21 40879132 40879250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205664 M 24 DSCAM esv1934003 21 40913611 40914117 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963162 S 1 0 1 DSCAM NA18507 esv1557821 21 40914026 40914026 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687012 S 2 1 0 DSCAM HuRef esv1662014 21 40930932 40931220 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907438 S 2 0 1 DSCAM HuRef nsv187104 21 40931201 40931448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205682 M 24 DSCAM esv2038671 21 40976275 40976803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809530 S 1 0 1 DSCAM NA18507 esv4710 21 40976402 40976824 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27151 S 1 0 1 Single Asian sample YH DSCAM YH esv1502218 21 40976438 40976629 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247245 S 2 0 1 DSCAM HuRef nsv913747 21 41013927 41120633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582756 S 6533 0 1 DSCAM IS36131 nsv3526 21 41040051 41084271 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2348 S 9 0 1 DSCAM NA18555 nsv913748 21 41067495 41113732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539747 S 6533 0 1 DSCAM MS14485 nsv3527 21 41081522 41115980 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3077 S 9 1 0 DSCAM NA18555 nsv834101 21 41110820 41272864 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455615 S 95 1 0 DSCAM dgv4740n71 21 41208473 41241269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913749,nsv913750 M 6533 0 8 "" SP51134,SP52378,SP52381,SP53914,SP56458,SP80986,SP81036,SP81077 dgv4741n71 21 41208473 41265029 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913755,nsv913754,nsv913752,nsv913751 M 6533 0 18 "" MS25498,SP50091,SP50627,SP51167,SP51179,SP51265,SP51398,SP52313,SP52371,SP53131,SP54050,SP54355,SP54681,SP55027,SP55126,SP57950,SP81438,SP81543 nsv913753 21 41208473 41405502 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551189 S 6533 1 0 "" MS18821 esv275389 21 41213548 41215523 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585341,essv2586053 M 1250 1 1 "" esv2387172 21 41263546 41263978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725528 S 1 0 1 "" NA18507 nsv187138 21 41263760 41263814 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205716 M 24 "" nsv7347 21 41266670 41474352 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6958 S 9 0 0 BACE2,LINC00323,MIR3197,PLAC4 NA12156 nsv913756 21 41320128 41369723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555040,nssv1531340,nssv1579769 M 6533 0 3 "" IS35179,MS10393,MS21163 esv2639639 21 41324320 41325898 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262959 S 1 0 1 "" NA18507 esv2013145 21 41324559 41325272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621326 S 1 0 1 "" NA18507 esv4491 21 41324705 41325165 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26932 S 1 0 1 Single Asian sample YH "" YH esv9025 21 41324750 41325086 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31466 S 1 0 1 "" SJK dgv108n6 21 41324753 41325087 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv187026,nsv187093 M 24 "" dgv24e197 21 41324754 41325087 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2579301,esv2472769 M 1 0 1 "" NA18507 esv993987 21 41324760 41325607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565457 S 3 0 1 "" HuRef esv1004167 21 41324766 41325081 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580242 S 3 0 1 "" HuRef esv1350960 21 41324766 41325087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759571 S 2 0 1 "" HuRef esv2321512 21 41379874 41380195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4576521 S 1 0 1 "" NA18507 esv1573540 21 41379981 41380076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169841 S 2 0 1 "" HuRef nsv519019 21 41489778 41494214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696490 S 2026 0 1 BACE2 nsv3528 21 41530306 41564847 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4560 S 9 1 0 BACE2 NA12878 esv2236625 21 41538220 41538568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669907 S 1 0 1 BACE2 NA18507 esv273316 21 41564964 41565267 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580328 S 7 1 0 Samples from several populations that are part of the HapMap project. BACE2 NA12891 esv267407 21 41564971 41565354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494910,essv2506182,essv2506735,essv2498931,essv2512046 M 157 5 0 Samples from several populations that are part of the HapMap project. BACE2 NA18520,NA18523,NA19108,NA19138,NA19238 nsv187046 21 41568947 41572987 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205624 M 24 BACE2 nsv913757 21 41576518 41616537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574085 S 6533 0 1 FAM3B IS33507 nsv522968 21 41579057 41579418 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698638 S 2026 0 1 "" nsv834102 21 41580064 41787803 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455616 S 95 0 1 FAM3B,MX1,MX2,TMPRSS2 esv274983 21 41650331 41653135 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585697 S 1250 0 1 FAM3B nsv528279 21 41651707 41674208 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704849 S 2026 1 0 MX2 nsv187364 21 41672132 41672132 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205942 M 24 MX2 esv1009381 21 41713899 41725114 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565103 S 3 0 1 MX1 HuRef nsv459261 21 41752560 41787977 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536054 S 1557 0 1 MX1,TMPRSS2 NINDS_57 nsv511631 21 41765624 41769378 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626264 S 1 1 0 TMPRSS2 1 esv26806 21 41767804 41769601 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21306 S 451 2 0 TMPRSS2 NA12414,NA15510 esv275165 21 41789989 41790195 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585173 S 1250 0 1 TMPRSS2 esv2517646 21 41833178 41834821 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379652 S 1 0 1 "" NA18507 esv2358328 21 41833653 41834429 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842322 S 1 0 1 "" NA18507 nsv3529 21 41908795 41940055 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4561 S 9 1 0 "" NA12878 dgv719n67 21 41910397 41911900 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828878,nsv828879 M 31 0 15 "" AK12,AK14,AK18,AK2,AK20,AK4,AK8,NA18566,NA18582,NA18942,NA18951,NA18969,NA18973,NA18997,NA18999 esv993447 21 41910397 41911900 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586800 S 3 1 0 "" HuRef nsv828880 21 41910397 41912541 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437170 S 31 0 1 "" NA18542 esv27136 21 41910517 41913155 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19122,esv20577 M 451 0 5 "" NA11894,NA11931,NA12749,NA18502,NA19108 esv6249 21 41910523 41912152 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28690 S 1 0 1 "" SJK nsv913758 21 41941388 41974475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579040 S 6533 0 1 LINC00111 IS35007 nsv913759 21 41949521 42009458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531021 S 6533 0 1 LINC00111,LINC00479 MS10311 nsv913760 21 41949521 42148965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547069 S 6533 0 1 LINC00111,LINC00112,LINC00479,PRDM15,RIPK4 MS17208 dgv4742n71 21 41955292 41987911 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913762,nsv913761 M 6533 0 2 LINC00111 MS16153,MS18276 nsv520016 21 41962371 41965270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687776,nssv660093 M 2026 0 2 "" nsv513575 21 41965967 41966373 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626827 S 1 1 0 "" 1 esv2465161 21 41965984 41966040 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381116 S 1 0 1 "" NA18507 nsv187264 21 41966039 41966039 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205842 M 24 "" esv989695 21 41967820 41981872 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565440 S 3 0 1 LINC00111 HuRef nsv459264 21 41980692 42009458 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536056 S 1557 0 1 LINC00111,LINC00479 1780854235_A esv1005060 21 41982494 41982549 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571541 S 3 0 1 LINC00111 HuRef nsv913763 21 42012667 42021326 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526662 S 6533 1 0 "" SP57700 nsv913764 21 42012667 42026153 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587212 S 6533 1 0 "" IS37995 nsv528841 21 42017409 42021326 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705518 S 2026 0 1 "" nsv459265 21 42026153 42053952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536057 S 1557 0 1 RIPK4 1780862565_A esv1533814 21 42029260 42029260 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239268 S 2 1 0 "" HuRef dgv4743n71 21 42049009 42082361 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913765,nsv913767 M 6533 2 0 RIPK4 SP50954,SP53876 nsv913766 21 42049868 42068706 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514126 S 6533 1 0 RIPK4 SP55946 nsv7348 21 42061144 42083169 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5907 S 9 0 0 "" NA19129 nsv510507 21 42078806 42084806 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624256 S 4 0 1 "" NA18994 nsv913768 21 42090338 42148965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543834 S 6533 0 1 PRDM15 MS16153 esv2434397 21 42098795 42100678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280913 S 1 0 1 PRDM15 NA18507 nsv512639 21 42099156 42100417 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625255 S 1 0 1 PRDM15 1 esv2868 21 42099700 42100490 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25309 S 1 0 1 Single Asian sample YH PRDM15 YH nsv913769 21 42109550 42148965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574004 S 6533 0 1 PRDM15 IS33504 nsv913770 21 42109550 42201140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531022 S 6533 0 1 C2CD2,PRDM15 MS10311 esv1344855 21 42129042 42129042 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662623 S 2 1 0 PRDM15 HuRef nsv187187 21 42129195 42129195 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205765 M 24 PRDM15 nsv913771 21 42135448 42177953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534778 S 6533 0 1 PRDM15 MS11726 nsv522791 21 42149852 42155505 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698435 S 2026 1 0 PRDM15 esv27733 21 42157561 42158636 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15899 S 451 0 2 PRDM15 NA18858,NA19108 nsv528517 21 42158495 42158899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705126 S 2026 0 1 PRDM15 nsv913772 21 42160134 42177953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571999 S 6533 0 1 PRDM15 IS32841 dgv4744n71 21 42163158 42181556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913773,nsv913774 M 6533 0 3 C2CD2,PRDM15 IS33455,IS33684,IS34304 dgv4745n71 21 42166440 42194352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913776,nsv913775 M 6533 0 3 C2CD2,PRDM15 IS39233,MS17208,MS18276 nsv828881 21 42180192 42181028 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422318 S 31 1 0 C2CD2 NA18997 nsv459271 21 42180398 42201140 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536058 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C2CD2 HGDP00210 esv2345767 21 42184104 42184591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831484 S 1 0 1 C2CD2 NA18507 nsv817931 21 42186752 42191092 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417555 S 112 0 1 C2CD2 NA18971 nsv3530 21 42195248 42243770 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11045 S 9 0 1 C2CD2 NA15510 esv26328 21 42223189 42226495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16983 S 451 0 6 C2CD2 NA07045,NA11995,NA12749,NA12828,NA12878,NA15510 nsv820038 21 42281386 42282665 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419222 S 2 0 1 ZNF295 AK1 nsv828882 21 42299445 42307531 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428768 S 31 1 0 ZNF295 AK10 nsv913777 21 42365398 42386269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547071 S 6533 0 1 UMODL1 MS17208 esv993470 21 42367423 42382425 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565692 S 3 0 1 UMODL1 HuRef esv2423716 21 42371279 42372819 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308849 S 1 0 1 UMODL1 NA18507 esv23152 21 42371310 42371965 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12390 S 451 1 0 UMODL1 NA19225 esv2402523 21 42371645 42372091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618942 S 1 0 1 UMODL1 NA18507 nsv913778 21 42390509 42419774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547072 S 6533 0 1 C21orf128,UMODL1 MS17208 nsv525313 21 42403740 42407904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701421 S 2026 0 1 UMODL1 nsv528679 21 42407751 42407904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705319 S 2026 0 1 UMODL1 esv2110905 21 42424346 42425025 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4817375 S 1 0 1 UMODL1 NA18507 nsv510798 21 42428302 42462879 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620168 S 4 0 1 UMODL1 NA15510 esv26620 21 42430575 42431180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11134 S 451 0 1 UMODL1 NA11931 nsv913779 21 42439444 42632510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564656 S 6533 0 1 ABCG1,TFF3 IS30277 esv5574 21 42455706 42456082 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28015 S 1 0 1 "" SJK dgv4746n71 21 42506262 42535865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913782,nsv913780 M 6533 0 3 ABCG1 MS20957,SP54956,SP55021 nsv913781 21 42509025 42521492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528649 S 6533 0 1 ABCG1 SP81335 nsv3531 21 42544504 42590258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5908 S 9 0 1 ABCG1 NA19129 nsv510799 21 42548201 42617704 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620169 S 4 0 1 ABCG1,TFF3 NA15510 nsv527022 21 42550900 42552582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703397 S 2026 0 1 ABCG1 nsv459273 21 42550900 42597422 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536059 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCG1 HGDP00187 esv2159041 21 42550987 42551545 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542630 S 1 0 1 ABCG1 NA18507 esv1717658 21 42551190 42551386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970247 S 2 0 1 ABCG1 HuRef nsv913783 21 42552623 42616108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547073 S 6533 0 1 ABCG1,TFF3 MS17208 nsv913784 21 42557737 42579845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531023 S 6533 0 1 ABCG1 MS10311 dgv4747n71 21 42562939 42579845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913786,nsv913785 M 6533 0 5 ABCG1 IS32841,IS33552,MS11726,MS13770,MS16032 nsv913787 21 42571324 42579845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600549 S 6533 0 1 ABCG1 IS41894 esv2511733 21 42576366 42577977 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174003 S 1 0 1 ABCG1 NA18507 esv2309946 21 42576665 42577540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518907 S 1 0 1 ABCG1 NA18507 nsv913788 21 42580170 42605897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550021 S 6533 0 1 ABCG1,TFF3 MS18276 dgv4748n71 21 42580170 42618010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913791,nsv913789 M 6533 0 3 ABCG1,TFF3 IS37646,MS10311,MS16153 nsv913790 21 42583165 42597422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572001 S 6533 0 1 ABCG1 IS32841 dgv253n21 21 42619066 42622269 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520293,nsv520513 M 2026 0 4 "" nsv913792 21 42654179 42674144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531025 S 6533 0 1 TFF1,TMPRSS3 MS10311 esv1143434 21 42678224 42678224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603760 S 2 1 0 TMPRSS3 HuRef esv1082026 21 42678233 42678233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753962 S 2 1 0 TMPRSS3 HuRef dgv4749n71 21 42698544 42778396 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913794,nsv913793 M 6533 3 0 RSPH1,UBASH3A MS12281,MS17898,SP55856 nsv522001 21 42714974 43121107 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694770 S 2026 1 0 PDE9A,RSPH1,SLC37A1,UBASH3A esv998022 21 42729691 42730685 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587195 S 3 1 0 UBASH3A HuRef nsv459275 21 42735109 42748803 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536061 S 1557 0 1 UBASH3A NINDS_254 nsv834103 21 42749790 42905817 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455617 S 95 1 0 RSPH1,SLC37A1 nsv819777 21 42773173 42779690 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419780 S 2 0 1 RSPH1 AK1 nsv521904 21 42796066 42800012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694676 S 2026 0 1 SLC37A1 nsv913795 21 42800012 42895862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547074 S 6533 0 1 SLC37A1 MS17208 esv25213 21 42806691 42807784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16160 S 451 0 1 SLC37A1 NA12004 nsv913796 21 42829968 42891021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543836 S 6533 0 1 SLC37A1 MS16153 dgv4750n71 21 42847638 42881504 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913797,nsv913799,nsv913800 M 6533 0 3 SLC37A1 IS32322,IS39417,MS18276 dgv4751n71 21 42847638 42891021 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913801,nsv913798 M 6533 0 2 SLC37A1 IS39233,MS16315 nsv3533 21 42856264 42896225 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6959 S 9 0 1 SLC37A1 NA12156 nsv913802 21 42859024 42881504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574005 S 6533 0 1 SLC37A1 IS33504 esv2153018 21 42862495 42862922 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947015 S 1 0 1 SLC37A1 NA18507 esv4794 21 42863112 42863615 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27235 S 1 0 1 Single Asian sample YH SLC37A1 YH nsv187256 21 42863167 42863273 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205834 M 24 SLC37A1 nsv820831 21 42880304 42885003 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420127 S 1 0 1 "" NA10851 esv25600 21 42880603 42883703 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18496 S 451 21 4 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12414,NA12489,NA12749,NA12878,NA15510,NA18505,NA18511,NA18517,NA18523,NA18858,NA18907,NA18916,NA19099,NA19114,NA19147,NA19225,NA19240 nsv512640 21 42880609 42883527 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625256 S 1 0 1 "" 1 esv1002519 21 42880708 42883518 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586140 S 3 1 0 "" HuRef nsv187054 21 42880874 42881332 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205632 M 24 "" esv1207079 21 42881128 42883219 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323733 S 2 0 1 "" HuRef nsv521182 21 42911317 42917111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693941,nssv683952 M 2026 0 2 "" nsv913803 21 42926420 43007512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550023 S 6533 0 1 PDE9A MS18276 nsv913804 21 42930777 42960303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510420 S 6533 0 1 PDE9A SP54956 nsv3534 21 42943253 42974629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2349 S 9 1 0 PDE9A NA18555 nsv913805 21 42945262 42990494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531026,nssv1574006 M 6533 0 2 PDE9A IS33504,MS10311 nsv913806 21 42945262 43174525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543837 S 6533 0 1 PDE9A,WDR4 MS16153 nsv913807 21 42969742 43013186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538762 S 6533 0 1 PDE9A MS13770 nsv525775 21 42970809 42972776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701947 S 2026 0 1 PDE9A esv995110 21 43006870 43018722 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565382 S 3 0 1 PDE9A HuRef nsv459276 21 43007512 43031474 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536062 S 1557 1 0 PDE9A NINDS_127 esv1010803 21 43008202 43012520 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586093 S 3 0 1 PDE9A HuRef nsv913808 21 43031474 43083855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550024 S 6533 0 1 PDE9A MS18276 dgv4752n71 21 43034914 43069463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913810,nsv913809 M 6533 0 2 PDE9A IS33504,IS38403 nsv459277 21 43045971 43061181 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536063 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDE9A HGDP00521 nsv913811 21 43054977 43101964 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584491 S 6533 1 0 PDE9A IS37044 esv1704509 21 43062677 43062677 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343531 S 2 1 0 PDE9A HuRef nsv913812 21 43086126 43510786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517990 S 6533 1 0 CBS,CRYAA,NDUFV3,PKNOX1,U2AF1,WDR4 SP57418 nsv913813 21 43112131 43145396 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507036 S 6533 1 0 WDR4 SP54456 dgv4753n71 21 43124292 43159655 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913815,nsv913814,nsv913816,nsv913817 M 6533 0 5 WDR4 IS32737,IS32841,IS37172,MS10311,MS16315 nsv913818 21 43124292 43174525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550025 S 6533 0 1 WDR4 MS18276 nsv913819 21 43134441 43150483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511120 S 6533 0 1 WDR4 SP54988 nsv913820 21 43159695 43273898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567277,nssv1589024 M 6533 2 0 NDUFV3,PKNOX1,WDR4 IS31066,IS38281 nsv834105 21 43166898 43323398 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455618 S 95 0 1 NDUFV3,PKNOX1,WDR4 esv2652948 21 43187346 43188144 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221389 S 1 1 0 NDUFV3 NA18507 esv1340851 21 43187538 43187538 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303525 S 2 1 0 NDUFV3 HuRef esv1737156 21 43187542 43187542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308682 S 2 1 0 NDUFV3 HuRef nsv187067 21 43187581 43187581 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205645 M 24 NDUFV3 esv2420186 21 43213044 43213485 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727794 S 1 0 1 "" NA18507 esv1675142 21 43213258 43213310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671410 S 2 0 1 "" HuRef esv1231957 21 43214983 43214983 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033858 S 2 1 0 "" HuRef esv1068282 21 43245892 43245892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677358 S 2 1 0 "" HuRef nsv913821 21 43253523 43318361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552804 S 6533 0 1 PKNOX1 MS19630 nsv913822 21 43253523 43376242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547075 S 6533 0 1 CBS,PKNOX1 MS17208 nsv913823 21 43255895 43285804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514740 S 6533 0 1 PKNOX1 SP56047 esv1762205 21 43258979 43258979 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194198 S 2 1 0 "" HuRef esv1004750 21 43285267 43287791 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565521 S 3 1 0 PKNOX1 HuRef esv1053373 21 43287500 43287500 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331099 S 2 1 0 PKNOX1 HuRef nsv459278 21 43322410 43356841 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536064 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CBS,PKNOX1 HGDP01240 esv1545426 21 43322921 43322921 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092579 S 2 1 0 PKNOX1 HuRef nsv510800 21 43324272 43386979 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620170 S 4 0 1 CBS,PKNOX1,U2AF1 NA15510 nsv913824 21 43325524 43364494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576994 S 6533 0 1 CBS,PKNOX1 IS34304 dgv4754n71 21 43340760 43376242 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913830,nsv913826,nsv913829,nsv913827,nsv913825 M 6533 0 7 CBS IS32888,IS33178,IS33504,IS35484,IS39233,MS10769,MS18276 nsv913828 21 43344761 43471896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531028 S 6533 0 1 CBS,CRYAA,U2AF1 MS10311 nsv521438 21 43351566 43356841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698048 S 2026 0 1 CBS nsv526609 21 43356841 43360473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702929 S 2026 0 1 CBS nsv459279 21 43381089 43442222 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536065 S 1557 0 1 U2AF1 NINDS_210 nsv913831 21 43437064 43756249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543838 S 6533 0 1 CRYAA,LINC00313,LINC00319,SIK1 MS16153 nsv509798 21 43446032 43493045 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623838,nssv621140,nssv618142,nssv619861 M 4 4 0 CRYAA CHM,NA10860,NA15510,NA18994 nsv3535 21 43451783 43478794 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6960 S 9 1 0 CRYAA NA12156 nsv913832 21 43452174 43592990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547076 S 6533 0 1 CRYAA MS17208 nsv913833 21 43515119 43552782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580972 S 6533 0 1 "" IS35484 esv27829 21 43524038 43530613 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16729,esv16654 M 451 1 5 "" NA12044,NA18505,NA19099,NA19114,NA19129,NA19257 esv2444444 21 43529524 43531045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250257 S 1 0 1 "" NA18507 nsv820322 21 43529893 43530613 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420128 S 1 1 0 "" NA10851 nsv913834 21 43530309 43555418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571594 S 6533 0 1 "" IS32737 nsv913835 21 43530309 43573569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592483 S 6533 0 1 "" IS39233 esv25726 21 43543049 43543564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15320 S 451 0 1 "" NA18858 nsv3536 21 43543752 43577778 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4562 S 9 1 0 "" NA12878 nsv913836 21 43545235 43586302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574009,nssv1537172 M 6533 0 2 "" IS33504,MS13095 nsv913837 21 43555566 43678287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531029 S 6533 0 1 SIK1 MS10311 esv999270 21 43557354 43557354 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582049 S 3 1 0 "" HuRef dgv4755n71 21 43564562 43756249 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913839,nsv913847,nsv913838 M 6533 0 3 LINC00313,LINC00319,SIK1 MS13770,MS17208,MS18276 nsv913840 21 43575071 43647907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575227 S 6533 0 1 "" IS33684 esv1367235 21 43580751 43581018 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042784 S 2 0 1 "" HuRef dgv4756n71 21 43586302 43699923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913841,nsv913844,nsv913845 M 6533 0 3 LINC00319,SIK1 IS33504,MS10769,MS11726 nsv913842 21 43589323 43617357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546426 S 6533 0 1 "" MS17208 nsv913843 21 43599185 43635184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529898 S 6533 0 1 "" MS10123 nsv470901 21 43605784 43708680 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544784,nssv544783,nssv544782 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00313,LINC00319,SIK1 HGDP00546,HGDP00661,HGDP00978 nsv913846 21 43616431 43649282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597367 S 6533 0 1 "" IS40799 esv2280748 21 43616965 43617374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4600929 S 1 0 1 "" NA18507 esv28889 21 43632994 43633480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18832 S 451 0 2 "" NA18858,NA19114 nsv821231 21 43632994 43633480 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420129 S 1 0 1 "" NA10851 dgv4757n71 21 43641676 43672498 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv913851,nsv913848 M 6533 14 0 SIK1 IS30814,IS32999,IS33066,IS33712,IS34262,IS35242,IS35919,IS37040,IS37156,IS38161,IS38417,IS38572,IS40570,IS41825 dgv4758n71 21 43641676 43778950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913849,nsv913867,nsv913852,nsv913860,nsv913868 M 6533 0 5 HSF2BP,LINC00313,LINC00319,SIK1 IS32737,IS37172,IS38538,MS16315,MS19630 nsv820461 21 43645541 43663238 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420130 S 1 1 0 SIK1 NA10851 esv32887 21 43645653 43663556 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100680,essv97250,essv98563,essv93256 M 51 4 0 SIK1 21656,22075,22085,22170 dgv720n67 21 43645991 43663238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828896,nsv828885,nsv828890,nsv828887,nsv828884,nsv828883,nsv828888,nsv828891,nsv828894,nsv828889,nsv828892,nsv828895,nsv828893 M 31 0 18 SIK1 AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18972,NA18999 dgv535n27 21 43646295 43664110 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459280,nsv459281,nsv459282 M 1557 3 0 SIK1 1780854486_A,HGDP00610,NINDS_211 nsv913850 21 43646295 43664110 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587783 S 6533 1 0 SIK1 IS38112 nsv470902 21 43646295 43672497 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544785,nssv544786 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SIK1 HGDP00689,HGDP01094 esv23456 21 43646951 43662973 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10863 S 451 0 38 SIK1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819251 21 43647004 43661107 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418642 S 2 0 1 SIK1 AK1 nsv817932 21 43647907 43656409 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416285 S 112 1 0 "" NA12057 esv2421642 21 43647907 43661983 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5036225,essv5090248,essv5155953,essv5029287,essv5068163,essv5102356,essv5014663,essv5160027,essv5092271,essv5038362,essv5140097,essv5048485,essv5143494,essv5045529,essv5143299,essv5116549,essv5097461,essv5146766,essv5073412,essv5090536,essv5072933,essv5033979,essv5157057,essv5044352,essv5046106,essv5043897,essv5143617,essv5042995,essv5031033,essv5005897,essv5008959,essv5093102,essv5045479,essv5141706,essv5072202,essv5044003,essv5099151,essv5091567,essv5131490,essv5143467,essv5010159,essv5028557,essv5077291,essv5120644,essv5097584,essv5048738,essv5123387 M 1184 47 0 SIK1 NA10835,NA10865,NA11891,NA11992,NA12056,NA12057,NA12249,NA12286,NA19031,NA19035,NA19310,NA19372,NA19379,NA19380,NA19381,NA19382,NA19404,NA19431,NA19679,NA19680,NA19819,NA20521,NA20765,NA20796,NA20866,NA20890,NA20902,NA21357,NA21363,NA21364,NA21391,NA21400,NA21401,NA21415,NA21438,NA21451,NA21485,NA21510,NA21519,NA21528,NA21529,NA21587,NA21617,NA21620,NA21733,NA21738,NA21826 nsv817933 21 43647907 43664110 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415714,nssv1415715 M 112 2 0 SIK1 NA10835,NA12249 nsv516339 21 43647907 43697488 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681443,nssv671495,nssv671611,nssv660515,nssv673127,nssv661042,nssv700339,nssv699356,nssv703319,nssv689513,nssv667686,nssv701259 M 2026 6 6 LINC00319,SIK1 nsv442498 21 43652457 43655716 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv4759n71 21 43656409 43708680 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913859,nsv913862,nsv913857,nsv913854,nsv913856,nsv913866,nsv913853,nsv913858,nsv913855 M 6533 0 16 LINC00313,LINC00319,SIK1 IS30197,IS30835,IS32841,IS33514,IS33776,IS34304,IS34407,IS35484,IS36876,IS37646,IS37985,IS40230,MS10698,MS11237,MS11579,SP54956 nsv913861 21 43658282 43672498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506136 S 6533 0 1 SIK1 SP54043 dgv4760n71 21 43659253 43684970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913863,nsv913864 M 6533 0 2 SIK1 SP54684,SP55021 nsv459288 21 43659936 43694578 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536070 S 1557 0 1 LINC00319,SIK1 1780862093_A nsv913865 21 43659936 43697445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573334 S 6533 1 0 LINC00319,SIK1 IS33263 nsv828898 21 43661725 43662238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435602 S 31 0 1 SIK1 NA18942 nsv913869 21 43661983 43695491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511121 S 6533 0 1 LINC00319,SIK1 SP54988 dgv721n67 21 43662483 43689359 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828902,nsv828899 M 31 2 0 SIK1 NA18542,NA18949 nsv828900 21 43662536 43677336 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427201 S 31 1 0 SIK1 AK6 nsv828901 21 43662536 43697881 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428769 S 31 1 0 LINC00319,SIK1 AK10 nsv828903 21 43664231 43689359 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435603 S 31 0 1 SIK1 NA18942 nsv828904 21 43666230 43674619 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422608 S 31 1 0 SIK1 NA18969 nsv913870 21 43672498 43699923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530395 S 6533 0 1 LINC00319 MS10311 nsv913871 21 43682962 43699130 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594896 S 6533 1 0 LINC00319 IS40057 nsv913872 21 43684970 43749762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592484 S 6533 0 1 LINC00313,LINC00319 IS39233 nsv913873 21 43704297 43966855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559769 S 6533 0 1 HSF2BP,LINC00313,PDXK,RRP1B MS24135 nsv521700 21 43749762 43866218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698323 S 2026 0 1 HSF2BP nsv470903 21 43749762 43885929 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544788 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSF2BP HGDP01270 nsv459289 21 43749762 43889028 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536071 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSF2BP HGDP01270 esv1006281 21 43754654 43756951 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565213 S 3 1 0 "" HuRef nsv511632 21 43788114 43811507 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626265 S 1 0 1 HSF2BP 1 nsv3537 21 43791768 43837532 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2351 S 9 0 1 HSF2BP NA18555 nsv436338 21 43792212 43797760 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465755 S 2 0 1 Samples from several populations that are part of the HapMap project. HSF2BP NA18505 esv2474541 21 43793770 43797945 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374978 S 1 0 1 HSF2BP NA18507 esv2627317 21 43794044 43798365 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385066 S 1 0 1 HSF2BP NA18507 nsv820925 21 43794318 43797920 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420131 S 1 0 1 HSF2BP NA10851 nsv828905 21 43794318 43797920 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437119,nssv1429525,nssv1427982,nssv1423521,nssv1423070,nssv1434824,nssv1435604,nssv1430286,nssv1426328,nssv1425455,nssv1433375 M 31 7 4 HSF2BP AK12,AK14,AK2,AK4,AK8,NA18547,NA18552,NA18570,NA18592,NA18942,NA18972 esv2108372 21 43794606 43797901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912573 S 1 0 1 HSF2BP NA18507 esv1010827 21 43794624 43797744 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586360 S 3 1 0 HSF2BP HuRef esv29530 21 43794624 43797920 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12733 S 451 29 0 HSF2BP NA07037,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 nsv512641 21 43794707 43797948 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625257 S 1 0 1 HSF2BP 1 nsv828906 21 43794761 43796175 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439404 S 31 0 1 HSF2BP NA18973 esv2421821 21 43794765 43797240 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121248,essv5003500,essv5081150,essv5021512,essv5127998,essv5074199,essv5123527,essv5117208,essv5037590,essv5044711,essv5063227,essv5106652,essv5045878,essv5010724,essv5152171,essv5021072,essv5028843,essv5032737,essv5149699,essv5063010,essv5153046,essv5081773,essv5134598,essv5105563,essv5113942,essv5056650,essv5066767,essv5127043,essv5038031,essv5048627,essv5082768,essv5002401,essv5147070,essv5054555,essv5014303,essv5059460,essv5106673,essv5077633,essv5087310,essv5003780,essv5107398,essv5026914,essv5075691,essv5129562,essv5135373,essv5066643,essv5147624,essv5052669,essv5051215,essv5024024,essv5074546,essv5127581,essv5115378,essv5112807,essv5067826,essv5080331,essv5147306,essv5028786,essv5141064,essv5139307,essv5147410,essv5114107,essv5152065,essv5154929,essv5090962,essv5063127,essv5033414,essv5143652,essv5126404,essv5122361,essv5147949,essv5011193,essv5103503,essv5008278,essv5067726,essv5136295,essv5058528,essv5146541,essv5113104,essv5085389,essv5113106,essv5158530,essv5079942,essv5106964,essv5127282,essv5149488,essv5141441,essv5088274,essv5045863,essv5035581,essv5091494,essv5147271,essv5041078,essv5151043,essv5035475,essv5084538,essv5145207,essv5074987,essv5145930,essv5049808,essv5061858,essv5151140,essv5094110,essv5114169,essv5019142,essv5141680,essv5077570,essv5031195,essv5070648,essv5088725,essv5125275,essv5094776,essv5138221,essv5020280,essv5122751,essv5157893,essv5125754,essv5016646,essv5054773,essv5106250,essv5159403,essv5084695,essv5016589,essv5106255,essv5006306,essv5028099,essv5084102,essv5138189,essv5121861,essv5117859,essv5004564,essv5061842,essv5004029,essv5010592,essv5115015,essv5158790,essv5158267,essv5132394,essv5160000,essv5030572,essv5154135,essv5030438,essv5043014,essv5110180,essv5152282,essv5151529,essv5142430,essv5113807,essv5092994,essv5002737,essv5113333,essv5016751,essv5050121,essv5056646,essv5060631,essv5149204,essv5033471,essv5021394,essv5020509,essv5032722,essv5044791,essv5127921,essv5130266,essv5107321,essv5042818,essv5051197,essv5066716,essv5034969,essv5138202,essv5021833,essv5097848,essv5040828,essv5022922,essv5138816,essv5013585,essv5074926,essv5038191,essv5141087,essv5105292,essv5049948,essv5135923,essv5105161,essv5119697,essv5121518,essv5142215,essv5057780,essv5037288,essv5077716,essv5160527,essv5009825,essv5157123,essv5123854,essv5095193,essv5109047,essv5097861,essv5038771,essv5113870,essv5003538,essv5075671,essv5038990,essv5115082,essv5102047,essv5126119,essv5122172,essv5027583,essv5025622,essv5024193,essv5027783,essv5118731,essv5034013,essv5069858,essv5054635,essv5154552,essv5051009,essv5078542,essv5012711,essv5101121,essv5058598,essv5122499,essv5051275,essv5042852,essv5043881,essv5046206,essv5138972,essv5156472,essv5135824,essv5014780,essv5058597,essv5006230,essv5115215,essv5133369,essv5030052,essv5070763,essv5128613,essv5111551,essv5084900,essv5132365,essv5025869,essv5026414,essv5047816,essv5078949,essv5152474,essv5028346,essv5154343,essv5145199,essv5106387,essv5159533,essv5125730,essv5071557,essv5066871,essv5006560,essv5098172,essv5022344,essv5033098,essv5075041,essv5039686,essv5143006,essv5107489,essv5050007,essv5128007,essv5135719,essv5140199,essv5093827,essv5111861,essv5071230,essv5120456,essv5015228,essv5152404,essv5123118,essv5075712,essv5088890,essv5150456,essv5087267,essv5040843,essv5025833,essv5148323,essv5130545,essv5094658,essv5121858,essv5116935,essv5084398,essv5091928,essv5060371,essv5039493,essv5149977,essv5130765,essv5135160,essv5014608,essv5003592,essv5021802,essv5047867,essv5039958,essv5008212,essv5130889,essv5033614,essv5141494,essv5083493,essv5064234,essv5007920,essv5030094,essv5079921,essv5036420,essv5081233,essv5029600,essv5002399,essv5025766,essv5115181,essv5035891,essv5082402,essv5020028,essv5028057,essv5016604,essv5136076,essv5021479,essv5071324,essv5141583,essv5129779,essv5112462,essv5033597,essv5011893,essv5131480,essv5022421,essv5009106,essv5122968,essv5104676,essv5006823,essv5041229,essv5157619,essv5055784,essv5120256,essv5025758,essv5147840,essv5037890,essv5056929,essv5131621,essv5024637,essv5050785,essv5146815,essv5145100,essv5039978,essv5081726,essv5102600,essv5049706,essv5138758,essv5114414,essv5108443,essv5070481,essv5111757,essv5093070,essv5106461,essv5017837,essv5064916,essv5072943,essv5116834,essv5152677,essv5015643,essv5050200,essv5110521,essv5075951,essv5099312,essv5018909,essv5104067,essv5088385,essv5085585,essv5101923,essv5083882,essv5035412,essv5043564,essv5139697,essv5152611,essv5041425,essv5073081,essv5138729,essv5153367,essv5077413,essv5009020,essv5020835,essv5056416,essv5008846,essv5065216,essv5024644,essv5052080,essv5005509,essv5014841,essv5052262,essv5003380,essv5018760,essv5121607,essv5010368,essv5055275,essv5069988,essv5018443,essv5131452,essv5114215,essv5079504,essv5043802,essv5115928,essv5111125,essv5076449,essv5117096,essv5071640,essv5098705,essv5136285,essv5078518,essv5110269,essv5116670,essv5025306,essv5124186,essv5112093,essv5117028,essv5099935,essv5085275,essv5124322,essv5058184,essv5012911,essv5042162,essv5050309,essv5140239,essv5136414,essv5003725,essv5115500,essv5065780,essv5088630,essv5072497,essv5113502,essv5026451,essv5056943,essv5019390,essv5158217,essv5060987,essv5098868,essv5020541,essv5037233,essv5082524,essv5121823,essv5077837,essv5146510,essv5002438,essv5130010,essv5130005,essv5131201,essv5061756,essv5126909,essv5015196,essv5044120,essv5136516,essv5157711,essv5116361,essv5053211,essv5019188,essv5126314,essv5111251,essv5058741,essv5128214,essv5090803,essv5141009,essv5026456,essv5160979,essv5158170,essv5132287,essv5114197,essv5130162,essv5105519,essv5012218,essv5136521,essv5113872,essv5027634,essv5039866,essv5100344,essv5031743,essv5116379,essv5140472,essv5114456,essv5086590,essv5149427,essv5027148,essv5084059,essv5057695,essv5077328,essv5107173,essv5027255,essv5061355,essv5025098,essv5023703,essv5007559,essv5040759,essv5008678,essv5040609,essv5017233,essv5092517,essv5043887,essv5145276,essv5058997,essv5055774,essv5104213,essv5108731,essv5130127,essv5095003,essv5136135,essv5058969,essv5049195,essv5045281,essv5102408,essv5083498,essv5153809,essv5010895,essv5147889,essv5119443,essv5154293,essv5065049,essv5109814,essv5064856,essv5012242,essv5056806,essv5159044,essv5058016,essv5040516,essv5043253,essv5142003,essv5048070,essv5045737,essv5039308,essv5146709,essv5054470,essv5009807,essv5138404,essv5105464,essv5149081,essv5050045,essv5015612,essv5159067,essv5059041,essv5159755,essv5082965,essv5069100,essv5148318,essv5126742,essv5109091,essv5141795,essv5052247,essv5140115,essv5050614,essv5145836,essv5007587,essv5053206,essv5118688,essv5037805,essv5099895,essv5037887,essv5112974,essv5104574,essv5146654,essv5050513,essv5008198,essv5119145,essv5104526,essv5011271,essv5071548,essv5122623,essv5043068,essv5005927,essv5038707,essv5123374,essv5130522,essv5037896,essv5115445,essv5126688,essv5132814,essv5074532,essv5106713,essv5092730,essv5114923,essv5079631,essv5083916,essv5110791,essv5085123,essv5150149,essv5078734,essv5011843,essv5007799,essv5160121,essv5148357,essv5105827,essv5160559,essv5055115,essv5082840,essv5089453,essv5015366,essv5147210,essv5021510,essv5137386,essv5002212,essv5035474,essv5128820,essv5088567,essv5133134,essv5102808,essv5073051,essv5085852,essv5013540,essv5096139,essv5036389,essv5036060,essv5092232,essv5049040,essv5030043,essv5011960,essv5113119,essv5028331,essv5079782,essv5080887,essv5043443,essv5093045,essv5109275,essv5079999,essv5074073,essv5084314,essv5038466,essv5114806,essv5006892,essv5035508,essv5105840,essv5005034,essv5143577,essv5024358,essv5055540,essv5041949,essv5042991,essv5067222,essv5152557,essv5145719,essv5059471,essv5029157,essv5107052,essv5090453,essv5065712,essv5055279,essv5042309,essv5104752,essv5062093,essv5147817,essv5090881,essv5156285,essv5013522,essv5018907,essv5015789,essv5114235,essv5142614,essv5131128,essv5123855,essv5024551,essv5097029,essv5137864,essv5039882,essv5081939,essv5034255,essv5149560,essv5061523,essv5110764,essv5010081,essv5147147,essv5110019,essv5160973,essv5146332,essv5015796,essv5110293,essv5094420,essv5081055,essv5046848,essv5009152,essv5048539,essv5144801,essv5101694,essv5049626,essv5073711,essv5070803,essv5065884,essv5050549,essv5146058,essv5122565,essv5030518,essv5092757,essv5031324,essv5024249,essv5080811,essv5009896,essv5115862,essv5043814,essv5110924,essv5082478,essv5072975,essv5018815,essv5134769,essv5137084,essv5048936,essv5076399,essv5125224,essv5044546,essv5109778,essv5083327,essv5005801,essv5112343,essv5003758,essv5031256,essv5103964,essv5118504,essv5004017,essv5028650,essv5062235,essv5024136,essv5014649,essv5012353,essv5093001,essv5078039,essv5115510,essv5034979,essv5103734,essv5066656,essv5002414,essv5008282,essv5093629,essv5096847,essv5051650,essv5114471,essv5108307,essv5014956,essv5062405,essv5113956,essv5034843,essv5045757,essv5020079,essv5045475,essv5014584,essv5123361,essv5010242,essv5002235,essv5012455,essv5076904,essv5153441,essv5120234,essv5152595,essv5105712,essv5130896,essv5014612,essv5042472,essv5116181,essv5081460,essv5115368,essv5077853,essv5120619,essv5106835,essv5158106,essv5132286,essv5020778,essv5154327,essv5086011,essv5094080,essv5038629,essv5038224,essv5063252,essv5001987,essv5058346,essv5024376,essv5080394,essv5125309,essv5014247,essv5132207,essv5099208,essv5013406,essv5007565,essv5049769,essv5112383,essv5053561,essv5103646,essv5147328,essv5144954,essv5051585,essv5157293,essv5135161,essv5091770,essv5071380,essv5125239,essv5148828,essv5018413,essv5017659,essv5135251,essv5158384,essv5125101,essv5063557,essv5014824,essv5086225,essv5096089,essv5124177,essv5006120,essv5098020,essv5011100,essv5054145,essv5056451,essv5015507,essv5108006,essv5114302,essv5060512,essv5059461,essv5098404,essv5032253,essv5077061,essv5050619,essv5032476,essv5056995,essv5148002,essv5022252,essv5129350,essv5018366,essv5152498,essv5018339,essv5099055,essv5146173,essv5025968,essv5016308,essv5014923,essv5148245,essv5118374,essv5086876,essv5017333,essv5084356,essv5035561,essv5035916,essv5063531,essv5098628,essv5076321,essv5075063,essv5073119,essv5129184,essv5153209,essv5090724,essv5119775,essv5102783,essv5147715,essv5034246,essv5119783,essv5008662,essv5102404,essv5157173,essv5073741,essv5079531,essv5055674,essv5085171,essv5102845,essv5067061,essv5114484,essv5149324,essv5139577,essv5148573,essv5127250,essv5135228,essv5154030,essv5016020,essv5061008,essv5030543,essv5157156,essv5031586,essv5121332,essv5137820,essv5025686,essv5029947,essv5146255,essv5094560,essv5105577,essv5117436,essv5081550,essv5094609,essv5022591,essv5135713,essv5141491,essv5111844,essv5130205,essv5054159,essv5052426,essv5071630,essv5074047,essv5078354,essv5017471,essv5088009,essv5154371,essv5110660,essv5075680,essv5135472,essv5039676,essv5111048,essv5096854,essv5042787,essv5143488,essv5030692,essv5038583,essv5042946,essv5127067,essv5050865,essv5021247,essv5160761,essv5039114,essv5086189,essv5143697,essv5147381,essv5034869,essv5098168,essv5069166,essv5069897,essv5123417,essv5097969,essv5074738,essv5134313,essv5034582,essv5041912,essv5003821,essv5159559,essv5032396,essv5118339,essv5046678,essv5017440,essv5148454,essv5028448,essv5126491,essv5152416,essv5005581,essv5120163,essv5036073,essv5123540,essv5013510,essv5012618,essv5114390,essv5068107,essv5035318,essv5018929,essv5155180,essv5102659,essv5029129,essv5037463,essv5032422,essv5056621,essv5088020,essv5100686,essv5060048,essv5020962,essv5017368,essv5117386,essv5120519,essv5118946,essv5109036,essv5003198,essv5092654,essv5035147,essv5054603,essv5159725,essv5104232,essv5118346,essv5135494,essv5151671,essv5069857,essv5129893,essv5013812,essv5112163,essv5085256,essv5100354,essv5098331,essv5002205,essv5111019,essv5007862,essv5051149,essv5032433,essv5129776,essv5136784,essv5099782 M 1184 0 972 HSF2BP NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA06997,NA07000,NA07029,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10831,NA10835,NA10836,NA10837,NA10839,NA10840,NA10845,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10865,NA11829,NA11832,NA11840,NA11843,NA11882,NA11891,NA11892,NA11917,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12272,NA12273,NA12275,NA12286,NA12287,NA12336,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12399,NA12400,NA12413,NA12546,NA12707,NA12716,NA12718,NA12748,NA12750,NA12752,NA12753,NA12761,NA12763,NA12767,NA12775,NA12776,NA12777,NA12778,NA12812,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18964,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19058,NA19059,NA19060,NA19062,NA19064,NA19065,NA19066,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19102,NA19107,NA19109,NA19113,NA19114,NA19116,NA19117,NA19119,NA19120,NA19121,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19142,NA19143,NA19144,NA19147,NA19148,NA19150,NA19151,NA19152,NA19154,NA19159,NA19160,NA19171,NA19172,NA19173,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19189,NA19190,NA19191,NA19192,NA19197,NA19198,NA19199,NA19200,NA19201,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19211,NA19214,NA19215,NA19221,NA19222,NA19223,NA19225,NA19235,NA19236,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19310,NA19311,NA19314,NA19315,NA19316,NA19317,NA19319,NA19321,NA19327,NA19332,NA19334,NA19346,NA19347,NA19352,NA19359,NA19371,NA19372,NA19376,NA19377,NA19379,NA19380,NA19382,NA19383,NA19384,NA19385,NA19390,NA19393,NA19394,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19444,NA19446,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19467,NA19468,NA19469,NA19470,NA19471,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19701,NA19704,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19746,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20276,NA20277,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20295,NA20297,NA20300,NA20302,NA20317,NA20319,NA20332,NA20333,NA20334,NA20335,NA20336,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20357,NA20359,NA20360,NA20363,NA20364,NA20502,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20517,NA20520,NA20521,NA20525,NA20527,NA20529,NA20531,NA20535,NA20538,NA20541,NA20542,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20774,NA20775,NA20778,NA20783,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20800,NA20802,NA20803,NA20804,NA20805,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20852,NA20854,NA20859,NA20861,NA20862,NA20866,NA20869,NA20871,NA20872,NA20873,NA20874,NA20876,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20898,NA20900,NA20901,NA20902,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21101,NA21102,NA21104,NA21105,NA21106,NA21109,NA21112,NA21113,NA21115,NA21117,NA21118,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21366,NA21367,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21391,NA21400,NA21401,NA21402,NA21404,NA21405,NA21408,NA21414,NA21417,NA21418,NA21421,NA21423,NA21424,NA21425,NA21434,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21453,NA21454,NA21455,NA21457,NA21476,NA21479,NA21485,NA21486,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21578,NA21582,NA21583,NA21587,NA21597,NA21599,NA21601,NA21608,NA21614,NA21615,NA21616,NA21617,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21685,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825 nsv442789 21 43794765 43797240 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HSF2BP esv2807 21 43794767 43797841 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25248 S 1 0 1 Single Asian sample YH HSF2BP YH esv7883 21 43794813 43797723 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30324 S 1 0 1 HSF2BP SJK nsv514957 21 43794860 43796020 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628365 S 1414 0 1 HSF2BP nsv834106 21 43816815 43933917 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455620,nssv1455619 M 95 0 2 HSF2BP,RRP1B esv27911 21 43825995 43828599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20719 S 451 0 1 HSF2BP NA18858 dgv109n6 21 43827124 43827623 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv187278,nsv187117 M 24 HSF2BP esv1180297 21 43827457 43827961 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265024 S 2 0 1 HSF2BP HuRef nsv187429 21 43840069 43842698 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206007 M 24 HSF2BP nsv913874 21 43866218 44015433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547078 S 6533 0 1 HSF2BP,PDXK,RRP1B MS17208 esv999311 21 43912166 43922016 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563898 S 3 0 1 RRP1B HuRef nsv913875 21 43944057 44015433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586110 S 6533 0 1 PDXK IS37646 dgv4761n71 21 43944057 44091621 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913880,nsv913876,nsv913881 M 6533 0 3 CSTB,LOC284837,PDXK,RRP1 IS33504,MS13095,SP54956 dgv4762n71 21 43958296 43994713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913877,nsv913878 M 6533 0 2 PDXK SP54725,SP54988 nsv509799 21 43968318 44097155 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619862 S 4 1 0 CSTB,LOC284837,PDXK,RRP1 NA10860 nsv913879 21 43969714 44061467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525597 S 6533 1 0 CSTB,LOC284837,PDXK,RRP1 SP56726 nsv470904 21 43975473 44082475 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544792,nssv544790,nssv544793,nssv544789,nssv544791 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSTB,LOC284837,PDXK,RRP1 HGDP00288,HGDP00657,HGDP00661,HGDP00825,HGDP00978 nsv913882 21 43976302 44195143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543839 S 6533 0 1 AGPAT3,CSTB,LOC284837,PDXK,RRP1 MS16153 esv33771 21 43979648 43991681 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101557,essv101218,essv93845,essv100783,essv96777,essv101072,essv95164,essv98259,essv94664,essv94088,essv101329,essv94387,essv96914,essv97917,essv95631,essv95451,essv93011,essv95294,essv97320,essv101759,essv95889,essv94551,essv99109,essv92993,essv92792,essv93597,essv96141,essv96695,essv98642,essv96026,essv93350,essv99724,essv94980,essv92586,essv96491,essv99335,essv97640,essv100139,essv100515,essv100355,essv99493,essv98462,essv96267 M 51 43 0 PDXK 21603,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22085,22127,22170,22217,22231,22233,22261,22275,22278,22286,22298,22300,22335,22352,22371 nsv834107 21 43979753 44118974 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455622,nssv1455621,nssv1455623 M 95 0 3 AGPAT3,CSTB,LOC284837,PDXK,RRP1 esv25264 21 43983691 43985291 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19810 S 451 0 2 PDXK NA12414,NA15510 esv1717308 21 43987878 43987878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716732 S 2 1 0 PDXK HuRef esv33817 21 43993840 44891970 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99474 S 51 0 1 AGPAT3,AIRE,C21orf2,C21orf33,C21orf90,CSTB,DNMT3L,ICOSLG,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,LOC284837,LRRC3,PDXK,PFKL,PWP2,RRP1,TRAPPC10,TRPM2,TSPEAR 22335 nsv459291 21 44000386 44015567 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536072 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDXK HGDP00607 nsv520305 21 44000386 44070754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694374 S 2026 0 1 CSTB,LOC284837,PDXK,RRP1 nsv834108 21 44002465 44194069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455624,nssv1455625 M 95 0 2 AGPAT3,CSTB,LOC284837,PDXK,RRP1 dgv4763n71 21 44015567 44080264 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913883,nsv913884 M 6533 0 2 CSTB,LOC284837,RRP1 IS39233,IS41634 nsv913885 21 44030783 44073902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550028 S 6533 0 1 LOC284837,RRP1 MS18276 esv1945486 21 44031362 44031812 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4683217 S 1 0 1 "" NA18507 esv4213 21 44031449 44031748 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26654 S 1 0 1 Single Asian sample YH "" YH nsv522204 21 44044911 44070754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694977 S 2026 0 1 LOC284837,RRP1 nsv913886 21 44044911 44091621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573244 S 6533 0 1 LOC284837,RRP1 IS33248 esv26834 21 44057305 44065777 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19139 S 451 0 1 "" NA18916 nsv516832 21 44061467 44064565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674509,nssv654291,nssv687939,nssv684402,nssv682521,nssv663079 M 2026 0 6 "" nsv519385 21 44061467 44088348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696825 S 2026 0 1 "" nsv442499 21 44062480 44064568 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1513146 21 44067532 44067532 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259618 S 2 1 0 "" HuRef esv25314 21 44079117 44088691 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20693 S 451 0 1 "" NA18916 nsv517946 21 44080264 44088348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695358 S 2026 0 1 "" nsv3538 21 44092102 44121587 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7727 S 9 0 1 AGPAT3 NA12156 esv29710 21 44150667 44158485 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19383 S 451 0 1 AGPAT3 NA11993 nsv913887 21 44169227 44495198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547079 S 6533 0 1 AGPAT3,C21orf33,DNMT3L,ICOSLG,PWP2,TRAPPC10 MS17208 nsv913888 21 44175634 44252706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575228 S 6533 0 1 AGPAT3 IS33684 nsv913889 21 44185472 44238547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586111 S 6533 0 1 AGPAT3 IS37646 nsv913890 21 44307378 44428174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552806 S 6533 0 1 C21orf33,PWP2,TRAPPC10 MS19630 dgv4764n71 21 44332989 44428174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913893,nsv913892,nsv913891 M 6533 0 11 C21orf33,PWP2,TRAPPC10 IS31656,IS32322,IS32737,IS33504,IS33601,IS34235,IS38176,IS39233,IS40799,MS13095,MS16315 dgv4765n71 21 44332989 44464567 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913897,nsv913894 M 6533 0 2 C21orf33,PWP2,TRAPPC10 IS33684,MS13770 esv25124 21 44332999 44333534 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16181 S 451 1 0 TRAPPC10 NA18517 dgv4766n71 21 44353347 44428174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913896,nsv913895 M 6533 0 2 C21orf33,PWP2 IS33178,MS10698 nsv913898 21 44379507 44801539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543840 S 6533 0 1 AIRE,C21orf2,C21orf33,C21orf90,DNMT3L,ICOSLG,KRTAP10-1,KRTAP10-2,LRRC3,PFKL,TRPM2,TSPEAR MS16153 esv6602 21 44395084 44398665 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29043 S 1 0 0 "" SJK nsv913899 21 44401530 44436378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550029 S 6533 0 1 "" MS18276 nsv913900 21 44401530 44464567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531030 S 6533 0 1 "" MS10311 esv1000571 21 44407621 44407621 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575458 S 3 1 0 "" HuRef esv994362 21 44407624 44407678 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566087 S 3 0 1 "" HuRef esv988754 21 44407642 44407642 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583366 S 3 1 0 "" HuRef esv1510435 21 44407663 44407663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837665 S 2 1 0 "" HuRef esv1008987 21 44408735 44408818 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567169 S 3 0 1 "" HuRef esv1332628 21 44408747 44408831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713285 S 2 0 1 "" HuRef esv995501 21 44428505 44428678 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575631 S 3 0 1 "" HuRef esv1023761 21 44428562 44428736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613178 S 2 0 1 "" HuRef nsv913901 21 44440169 44489758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599470 S 6533 0 1 ICOSLG IS41634 nsv913902 21 44440169 44533581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534781 S 6533 0 1 AIRE,DNMT3L,ICOSLG MS11726 esv994385 21 44442047 44448006 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565447 S 3 0 1 "" HuRef esv2529415 21 44443067 44445577 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220312 S 1 0 1 "" NA18507 esv21494 21 44443385 44445461 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9859 S 451 13 1 "" NA06985,NA07045,NA11894,NA11993,NA11995,NA12006,NA12749,NA12878,NA15510,NA18907,NA19114,NA19129,NA19190,NA19257 nsv821386 21 44443385 44446177 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420132 S 1 0 1 "" NA10851 esv5402 21 44443407 44445250 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27843 S 1 0 1 Single Asian sample YH "" YH nsv518543 21 44452404 44455036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694247 S 2026 0 1 "" nsv470906 21 44452404 44485771 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544795,nssv544797,nssv544794,nssv544796 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ICOSLG HGDP00550,HGDP00882,HGDP00954,HGDP00978 nsv517401 21 44453796 44455036 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651910,nssv677153,nssv674414,nssv704511,nssv692944,nssv669358,nssv686184,nssv683748,nssv696069,nssv678171,nssv688999,nssv657994,nssv678811 M 2026 1 12 "" nsv913903 21 44455036 44482398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510423 S 6533 0 1 ICOSLG SP54956 dgv4767n71 21 44461309 44525069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913904,nsv913905 M 6533 0 2 DNMT3L,ICOSLG IS37646,MS18276 esv1737771 21 44473970 44473970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667917 S 2 1 0 ICOSLG HuRef nsv913906 21 44482398 44643037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574013 S 6533 0 1 AIRE,C21orf2,DNMT3L,ICOSLG,PFKL,TRPM2 IS33504 nsv526276 21 44492599 44495198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702555 S 2026 0 1 DNMT3L nsv913907 21 44492599 44565251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530141 S 6533 0 1 AIRE,DNMT3L,PFKL MS10204 dgv4768n71 21 44503518 44537016 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913909,nsv913908 M 6533 0 2 AIRE,DNMT3L IS33178,MS13095 dgv4769n71 21 44505581 44611678 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913935,nsv913927,nsv913910,nsv913938,nsv913917,nsv913913,nsv913932 M 6533 0 9 AIRE,C21orf2,DNMT3L,PFKL,TRPM2 IS30369,IS31045,IS31656,IS33455,IS33684,IS38293,IS39363,IS40297,IS41410 dgv4770n71 21 44505581 44718335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913937,nsv913929,nsv913940,nsv913911,nsv913941,nsv913921,nsv913922,nsv913930 M 6533 0 8 AIRE,C21orf2,DNMT3L,LRRC3,PFKL,TRPM2 IS32322,IS32841,IS34235,IS34304,IS38176,MS10698,MS10769,MS18276 esv23445 21 44506082 44508093 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21044,esv16862 M 451 2 3 DNMT3L NA12044,NA12156,NA18858,NA19099,NA19108 nsv913912 21 44512009 44593026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580974 S 6533 0 1 AIRE,C21orf2,PFKL IS35484 dgv4771n71 21 44512643 44588825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913931,nsv913916,nsv913919,nsv913925,nsv913914,nsv913926 M 6533 0 10 AIRE,C21orf2,PFKL IS30197,IS32737,IS33162,IS37172,IS37646,IS40230,MS10311,MS16315,MS17208,SP54956 nsv913915 21 44522183 44537016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511123 S 6533 0 1 AIRE SP54988 dgv4772n71 21 44522183 44782220 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913942,nsv913944,nsv913918 M 6533 0 3 AIRE,C21orf2,C21orf90,LRRC3,PFKL,TRPM2,TSPEAR IS39233,MS10123,MS17208 dgv4773n71 21 44523832 44649220 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913920,nsv913928,nsv913936,nsv913933,nsv913939 M 6533 0 5 AIRE,C21orf2,PFKL,TRPM2 IS33239,IS34005,IS38144,IS39417,IS40799 nsv913923 21 44525069 44551218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572287,nssv1533824 M 6533 0 2 AIRE,PFKL IS32918,MS11306 dgv4774n71 21 44525069 44565251 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913924,nsv913934 M 6533 0 2 AIRE,PFKL IS41634,SP54725 nsv509800 21 44528359 44715882 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619863 S 4 1 0 AIRE,C21orf2,LRRC3,PFKL,TRPM2 NA10860 nsv526673 21 44535630 44547812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703005 S 2026 0 1 AIRE,PFKL esv24065 21 44544350 44545075 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21412 S 451 0 1 PFKL NA12489 nsv511633 21 44544801 44546870 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626267 S 1 1 0 PFKL 1 nsv518709 21 44546870 44547812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696160 S 2026 0 1 PFKL esv2347291 21 44548140 44548577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717345 S 1 0 1 PFKL NA18507 nsv913943 21 44565251 44865585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531031 S 6533 0 1 C21orf2,C21orf90,KRTAP10-1,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,LRRC3,PFKL,TRPM2,TSPEAR MS10311 esv1005792 21 44566077 44567268 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587077 S 3 1 0 PFKL HuRef nsv828907 21 44580091 44582257 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437172 S 31 1 0 C21orf2 NA18542 nsv828909 21 44580091 44594430 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427202 S 31 1 0 C21orf2 AK6 esv1005686 21 44580260 44580311 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569493 S 3 0 1 C21orf2 HuRef esv1476049 21 44580411 44580463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069699 S 2 0 1 C21orf2 HuRef esv27433 21 44613591 44614421 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10846 S 451 1 3 TRPM2 NA18858,NA19099,NA19129,NA19257 nsv3539 21 44623529 44638958 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5909 S 9 1 0 TRPM2 NA19129 nsv817934 21 44635771 44645957 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417556 S 112 0 1 TRPM2 NA18971 esv23823 21 44639882 44641333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16627 S 451 0 3 TRPM2 NA11993,NA19129,NA19147 esv1217346 21 44640469 44640575 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136040 S 2 0 1 TRPM2 HuRef esv1540187 21 44640684 44641162 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875021 S 2 0 1 TRPM2 HuRef esv27471 21 44653356 44655429 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15334 S 451 4 0 TRPM2 NA12044,NA15510,NA18508,NA19099 esv2636773 21 44653612 44655648 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391013 S 1 0 1 TRPM2 NA18507 esv2310692 21 44653663 44654374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960681 S 1 0 1 TRPM2 NA18507 esv1238729 21 44654464 44654739 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864148 S 2 0 1 TRPM2 HuRef esv1196219 21 44654798 44655118 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073849 S 2 0 1 TRPM2 HuRef nsv519245 21 44657340 44673563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694319 S 2026 0 1 TRPM2 nsv913945 21 44661861 44718335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574014 S 6533 0 1 LRRC3,TRPM2 IS33504 nsv913946 21 44663060 44898088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517991 S 6533 1 0 C21orf90,KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,LRRC3,TRPM2,TSPEAR SP57418 esv2549295 21 44674401 44676070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275259 S 1 0 1 TRPM2 NA18507 esv2299983 21 44674532 44675214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547948 S 1 0 1 TRPM2 NA18507 esv3375 21 44674648 44675114 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25816 S 1 0 1 Single Asian sample YH TRPM2 YH esv6021 21 44674722 44675049 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28462 S 1 0 1 TRPM2 SJK esv1585847 21 44674729 44675055 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235352 S 2 0 1 TRPM2 HuRef nsv913947 21 44677377 44710017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510425 S 6533 0 1 LRRC3,TRPM2 SP54956 nsv913948 21 44685340 44881212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586113 S 6533 0 1 C21orf90,KRTAP10-1,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,LRRC3,TRPM2,TSPEAR IS37646 nsv834109 21 44693780 44754475 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455628,nssv1455627,nssv1455626,nssv1455630,nssv1455629,nssv1455633,nssv1455631,nssv1455632 M 95 0 8 LRRC3,TSPEAR dgv722n67 21 44702056 44703174 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828911,nsv828910 M 31 2 0 LRRC3 NA18542,NA18969 nsv828912 21 44712513 44719346 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437175 S 31 1 0 "" NA18542 nsv187155 21 44712810 44712810 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205733 M 24 "" esv1431127 21 44712814 44712814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592522 S 2 1 0 "" HuRef esv1531082 21 44726037 44726285 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140052 S 2 0 1 "" HuRef esv21519 21 44728438 44729784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13957,esv16947 M 451 0 7 "" NA11894,NA11993,NA18916,NA19099,NA19129,NA19190,NA19257 nsv913949 21 44736378 44774978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507988 S 6533 0 1 C21orf90,TSPEAR SP54617 esv2114700 21 44747033 44747463 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710538 S 1 0 1 TSPEAR NA18507 esv23492 21 44767112 44769657 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11615 S 451 1 1 TSPEAR NA12044,NA12828 esv1917114 21 44767264 44767693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603813 S 1 0 1 TSPEAR NA18507 esv2109234 21 44774587 44775006 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589623 S 1 0 1 TSPEAR NA18507 nsv913950 21 44774978 44949221 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558003 S 6533 1 0 KRTAP10-1,KRTAP10-10,KRTAP10-11,KRTAP10-12,KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP12-1,KRTAP12-2,KRTAP12-3,KRTAP12-4,TSPEAR MS23031 esv7169 21 44794476 44872811 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29610 S 1 0 0 KRTAP10-2,KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,TSPEAR SJK nsv913951 21 44802068 44836952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592488 S 6533 0 1 KRTAP10-3,KRTAP10-4,KRTAP10-5,KRTAP10-6,TSPEAR IS39233 nsv516004 21 44812854 44813639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657419,nssv655309,nssv665669 M 2026 0 3 TSPEAR nsv913952 21 44812854 44865585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550032 S 6533 0 1 KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,TSPEAR MS18276 esv2751931 21 44814874 44879100 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983842,essv6983843,essv6989865 M 771 0 1 KRTAP10-4,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,TSPEAR BEC_633 esv8518 21 44835563 44882780 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30959 S 1 0 0 KRTAP10-10,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,TSPEAR SJK nsv913953 21 44836952 44865585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543841 S 6533 0 1 KRTAP10-7,KRTAP10-8,TSPEAR MS16153 nsv913954 21 44872061 44903841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572714 S 6533 0 1 KRTAP10-10,KRTAP10-11,KRTAP10-9,KRTAP12-3,KRTAP12-4,TSPEAR IS33162 nsv828913 21 44888915 44890312 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437176 S 31 1 0 TSPEAR NA18542 nsv913955 21 44890060 44905807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595460 S 6533 0 1 KRTAP10-11,KRTAP12-3,KRTAP12-4,TSPEAR IS40230 esv1943808 21 44903427 44903895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994407 S 1 0 1 TSPEAR NA18507 esv271511 21 44918580 44918665 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514040 S 157 1 0 Samples from several populations that are part of the HapMap project. TSPEAR NA12043 dgv4775n71 21 44921159 45145600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913962,nsv913956 M 6533 0 2 ITGB2,KRTAP10-12,KRTAP12-1,PTTG1IP,SUMO3,TSPEAR,UBE2G2 MS16153,MS17208 nsv913957 21 44925450 44973302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592489 S 6533 0 1 KRTAP10-12,KRTAP12-1,TSPEAR IS39233 nsv913958 21 44934972 44963638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550033 S 6533 0 1 KRTAP10-12,TSPEAR MS18276 nsv913959 21 44934972 45014195 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531032 S 6533 0 1 KRTAP10-12,TSPEAR,UBE2G2 MS10311 nsv524387 21 44942985 44944198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700304 S 2026 0 1 TSPEAR dgv4776n71 21 44966215 45014195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913960,nsv913961 M 6533 0 2 UBE2G2 IS34304,MS10769 esv2055553 21 44977636 44978072 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594662 S 1 0 1 "" NA18507 esv4995 21 44977654 44977967 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27436 S 1 0 1 Single Asian sample YH "" YH esv1298729 21 44977765 44977831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930300 S 2 0 1 "" HuRef esv2263326 21 44994790 44995189 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757643 S 1 0 1 "" NA18507 esv6317 21 44995156 44995240 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28758 S 1 1 0 "" SJK nsv913963 21 44997697 45102396 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572005 S 6533 0 1 PTTG1IP,SUMO3,UBE2G2 IS32841 esv2141511 21 45008435 45008781 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658530 S 1 0 1 "" NA18507 esv1107847 21 45008601 45008687 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352248 S 2 0 1 "" HuRef nsv459298 21 45015875 45102396 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536074 S 1557 0 1 PTTG1IP,SUMO3,UBE2G2 1780862444_A dgv4777n71 21 45038227 45145600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913965,nsv913964 M 6533 0 2 ITGB2,PTTG1IP,SUMO3,UBE2G2 IS37646,SP54956 nsv913966 21 45053821 45085818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511124 S 6533 0 1 SUMO3 SP54988 nsv3540 21 45055295 45084879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10314 S 9 1 0 SUMO3 NA18956 esv1625463 21 45069637 45069637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236582 S 2 1 0 "" HuRef nsv913967 21 45074180 45103933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592490 S 6533 0 1 PTTG1IP IS39233 nsv913968 21 45074180 45125436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533654 S 6533 0 1 PTTG1IP MS11249 dgv4778n71 21 45103933 45312259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913975,nsv913970,nsv913969,nsv913976 M 6533 0 4 C21orf67,FAM207A,ITGB2,LINC00162,LINC00163,LOC100505746,PTTG1IP IS33504,MS10311,MS17208,MS18276 esv2577260 21 45107154 45108078 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341871 S 1 1 0 PTTG1IP NA18507 nsv470907 21 45108097 45130589 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544799 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITGB2,PTTG1IP HGDP00951 dgv536n27 21 45108097 45135692 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459299,nsv459300 M 1557 2 0 ITGB2,PTTG1IP HGDP00951,HGDP00968 nsv470908 21 45123297 45160008 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544800,nssv544801 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITGB2 HGDP00657,HGDP00661 esv991329 21 45129532 45129888 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580227 S 3 0 1 "" HuRef esv1579228 21 45129790 45129895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305533 S 2 0 1 "" HuRef nsv459301 21 45130589 45147281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536077 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITGB2 HGDP00676 dgv4779n71 21 45130589 45148159 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913973,nsv913971,nsv913972 M 6533 0 4 ITGB2 IS31082,IS33178,IS35484,IS40799 nsv516593 21 45130589 45148159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697627,nssv654344,nssv660454,nssv669454,nssv660868 M 2026 0 5 ITGB2 nsv913974 21 45130589 45255220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570872 S 6533 0 1 C21orf67,FAM207A,ITGB2,LINC00162,LINC00163,LOC100505746 IS32322 nsv817935 21 45135692 45148159 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417209 S 112 0 1 ITGB2 NA18558 nsv459302 21 45135692 45152263 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536078 S 1557 0 1 ITGB2 NINDS_98 nsv834110 21 45140611 45329579 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455634 S 95 0 1 ADARB1,C21orf67,FAM207A,ITGB2,LINC00162,LINC00163,LOC100505746,SSR4P1 esv1002263 21 45157154 45157293 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580981 S 3 0 1 ITGB2 HuRef esv1200103 21 45157356 45157496 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784614 S 2 0 1 ITGB2 HuRef dgv4780n71 21 45160189 45297357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913980,nsv913978,nsv913987,nsv913979,nsv913991,nsv913986,nsv913977 M 6533 0 7 C21orf67,FAM207A,ITGB2,LINC00162,LINC00163,LOC100505746 IS33797,IS34235,IS37646,IS39233,IS41243,MS13770,MS16153 nsv187072 21 45163279 45163279 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205650 M 24 ITGB2 nsv913981 21 45168854 45233218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573589 S 6533 0 1 C21orf67,FAM207A,ITGB2,LOC100505746 IS33455 dgv4781n71 21 45168854 45272570 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913990,nsv913989,nsv913984,nsv913983,nsv913982,nsv913985 M 6533 0 7 C21orf67,FAM207A,ITGB2,LINC00162,LINC00163,LOC100505746 IS33178,IS33684,IS34005,IS34304,IS41410,MS10698,SP54956 esv1127077 21 45173337 45173337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777337 S 2 1 0 LOC100505746 HuRef dgv4782n71 21 45181244 45233218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913988,nsv913992 M 6533 0 2 C21orf67,FAM207A IS33248,IS36527 esv2218502 21 45196052 45196713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628779 S 1 0 1 FAM207A NA18507 dgv4783n71 21 45200956 45291102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913993,nsv913996,nsv913994,nsv913995 M 6533 0 6 FAM207A,LINC00162,LINC00163 IS31045,IS32841,IS33162,IS38176,IS41634,MS16315 nsv913997 21 45208369 45297357 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587290 S 6533 1 0 FAM207A,LINC00162,LINC00163 IS38002 esv1168895 21 45215506 45215506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710955 S 2 1 0 FAM207A HuRef nsv187379 21 45215524 45215524 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205957 M 24 FAM207A nsv913998 21 45217518 45266375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511125 S 6533 0 1 FAM207A,LINC00162,LINC00163 SP54988 esv2594506 21 45225459 45227257 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367938 S 1 0 1 "" NA18507 nsv187345 21 45225859 45226198 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205923 M 24 "" esv8041 21 45225875 45226776 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30482 S 1 0 1 "" SJK esv993211 21 45225941 45226791 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586384 S 3 1 0 "" HuRef esv24833 21 45225941 45227021 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10413 S 451 2 9 "" NA11995,NA12414,NA12776,NA12878,NA15510,NA18505,NA18523,NA18907,NA18916,NA19099,NA19114 esv1519718 21 45226680 45226791 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655062 S 2 0 1 "" HuRef nsv513576 21 45228325 45229313 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626828 S 1 1 0 "" 1 nsv526277 21 45233218 45264813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702556 S 2026 0 1 LINC00162,LINC00163 nsv187035 21 45267604 45267656 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205613 M 24 "" esv2435588 21 45271998 45273644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332222 S 1 0 1 "" NA18507 esv2164724 21 45272241 45273247 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805310 S 1 0 1 "" NA18507 nsv512642 21 45272264 45273645 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625258 S 1 0 1 "" 1 esv29662 21 45272399 45273154 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15377 S 451 30 1 "" NA11894,NA11931,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240,NA19257 esv9561 21 45272431 45273110 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32002 S 1 0 1 "" SJK esv2578603 21 45299265 45299632 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244135 S 1 1 0 "" NA18507 nsv3541 21 45320843 45361057 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5910 S 9 0 1 ADARB1 NA19129 esv2043847 21 45352908 45353348 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672612 S 1 0 1 ADARB1 NA18507 nsv187318 21 45353060 45353123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205896 M 24 ADARB1 esv995257 21 45353113 45353176 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582605 S 3 0 1 ADARB1 HuRef esv1612638 21 45353123 45353187 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725658 S 2 0 1 ADARB1 HuRef nsv522002 21 45367098 45376130 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694771 S 2026 1 0 ADARB1 esv999386 21 45378318 45378665 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572678 S 3 0 1 ADARB1 HuRef nsv187447 21 45378600 45378600 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206025 M 24 ADARB1 esv2213161 21 45390244 45390683 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509887 S 1 0 1 ADARB1 NA18507 esv998882 21 45390395 45390473 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568055 S 3 0 1 ADARB1 HuRef esv1361921 21 45390470 45390549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257843 S 2 0 1 ADARB1 HuRef nsv187030 21 45396617 45396670 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205608 M 24 ADARB1 dgv4784n71 21 45461272 45612727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv913999,nsv914000,nsv914006 M 6533 0 3 ADARB1,LOC642852,POFUT2 IS35484,IS38176,MS10769 nsv509802 21 45461939 45530719 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623839 S 4 1 0 ADARB1,POFUT2 NA18994 esv2483147 21 45468623 45469255 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218791 S 1 1 0 ADARB1 NA18507 nsv513577 21 45468874 45468964 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626829 S 1 1 0 ADARB1 1 esv1049502 21 45468881 45468881 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668470 S 2 1 0 ADARB1 HuRef dgv4785n71 21 45471506 45840089 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914002,nsv914001,nsv914012 M 6533 0 3 COL18A1,COL18A1-AS1,LOC642852,POFUT2,SLC19A1 IS32322,IS33504,IS37646 esv28353 21 45478527 45479157 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15585 S 451 0 1 "" NA19114 nsv914003 21 45495302 45519467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511630,nssv1508609 M 6533 0 2 POFUT2 SP54725,SP55021 dgv4786n71 21 45495302 45581128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914004,nsv914005 M 6533 0 2 LOC642852,POFUT2 IS37172,MS10386 dgv4787n71 21 45508945 45616852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914015,nsv914011,nsv914010,nsv914007,nsv914008,nsv914014 M 6533 0 7 LOC642852,POFUT2 IS32888,IS39233,MS11306,MS13095,MS13770,MS16153,MS16315 nsv914009 21 45508945 45732783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572007 S 6533 0 1 COL18A1,COL18A1-AS1,LOC642852,POFUT2 IS32841 nsv914013 21 45526934 45589679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572716 S 6533 0 1 LOC642852,POFUT2 IS33162 nsv914016 21 45539973 45612727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531034 S 6533 0 1 LOC642852 MS10311 dgv4788n71 21 45539973 45682209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914026,nsv914017 M 6533 0 2 COL18A1,COL18A1-AS1,LOC642852 IS33178,MS18276 dgv537n27 21 45544438 45673017 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459303,nsv459304 M 1557 2 0 COL18A1,COL18A1-AS1 HGDP00066,HGDP00137 nsv470909 21 45544438 45673017 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544802 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL18A1,COL18A1-AS1 HGDP00066 dgv4789n71 21 45561122 45645919 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914025,nsv914023,nsv914018 M 6533 0 3 "" IS32737,MS11579,MS17208 nsv914019 21 45566558 45604677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599473 S 6533 0 1 "" IS41634 dgv4790n71 21 45566558 45619642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914024,nsv914021,nsv914022,nsv914020 M 6533 0 5 "" IS35007,IS40799,MS10123,MS11726,MS13727 esv1010516 21 45567567 45572297 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563827 S 3 1 0 "" HuRef nsv526243 21 45574146 45581128 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702514 S 2026 0 1 "" nsv520123 21 45574146 45655301 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697234 S 2026 1 0 COL18A1 nsv518554 21 45583931 45599446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694248 S 2026 0 1 "" esv2590674 21 45584568 45585175 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226856 S 1 1 0 "" NA18507 nsv820084 21 45584582 45584801 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418907 S 2 1 0 "" AK1 esv28939 21 45589473 45590577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13387 S 451 0 4 "" NA06985,NA11995,NA18916,NA19240 nsv821569 21 45589473 45590577 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420133 S 1 0 1 "" NA10851 nsv914027 21 45590008 45806763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584898 S 6533 0 1 COL18A1,COL18A1-AS1,SLC19A1 IS37172 esv1663991 21 45590147 45590205 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860356 S 2 0 1 "" HuRef nsv442500 21 45599902 45603200 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28033 21 45600532 45604136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17156 S 451 0 1 "" NA18861 nsv914028 21 45600696 45640447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510428 S 6533 0 1 "" SP54956 esv8776 21 45608452 45613140 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31217 S 1 0 0 "" SJK nsv914029 21 45619642 45672710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593172 S 6533 0 1 COL18A1,COL18A1-AS1 IS39363 esv3687 21 45624548 45625001 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26128 S 1 0 1 Single Asian sample YH "" YH esv997653 21 45624606 45624747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578689 S 3 0 1 "" HuRef esv1485623 21 45624776 45624918 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314515 S 2 0 1 "" HuRef nsv914030 21 45627380 45653790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511631 S 6533 0 1 COL18A1 SP55021 dgv4791n71 21 45627380 45806763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914031,nsv914038,nsv914037,nsv914044,nsv914046 M 6533 0 5 COL18A1,COL18A1-AS1,SLC19A1 IS32737,IS39233,MS10769,MS16153,MS17208 dgv4792n71 21 45630851 45670443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914033,nsv914032 M 6533 0 2 COL18A1,COL18A1-AS1 MS10311,MS17522 dgv4793n71 21 45634312 45761386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914045,nsv914040,nsv914036,nsv914043,nsv914042,nsv914035,nsv914034,nsv914039 M 6533 0 8 COL18A1,COL18A1-AS1,SLC19A1 IS31656,IS32888,IS33239,IS38538,MS10698,MS16315,SP54043,SP54956 dgv4794n71 21 45646335 45729261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914041,nsv914047 M 6533 0 2 COL18A1,COL18A1-AS1 IS40297,MS18276 nsv516407 21 45655301 45865084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652887,nssv678911,nssv695809,nssv690481,nssv672768,nssv683690,nssv669603,nssv660455,nssv670071,nssv676871 M 2026 0 10 COL18A1,COL18A1-AS1,SLC19A1 esv1007573 21 45663005 45663005 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571698 S 3 1 0 COL18A1 HuRef nsv914048 21 45664332 45857300 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575232 S 6533 0 1 COL18A1,COL18A1-AS1,SLC19A1 IS33684 nsv834111 21 45667514 45829672 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455635 S 95 0 1 COL18A1,COL18A1-AS1,SLC19A1 dgv4795n71 21 45673017 45806763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914049,nsv914054 M 6533 0 3 COL18A1,SLC19A1 IS33601,IS33630,MS10311 esv990822 21 45678371 45678371 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575482 S 3 1 0 COL18A1 HuRef esv2570683 21 45680778 45683064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242026 S 1 0 1 COL18A1 NA18507 esv6137 21 45681869 45682339 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28578 S 1 0 1 COL18A1 SJK dgv4796n71 21 45684145 45750482 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914051,nsv914053,nsv914052,nsv914050 M 6533 0 4 COL18A1 IS30369,IS41634,MS11306,MS13095 dgv538n27 21 45693257 45743560 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459305,nsv459306 M 1557 0 2 COL18A1 HGDP00433,HGDP00518 dgv4797n71 21 45700511 45760851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914055,nsv914056,nsv914057 M 6533 0 3 COL18A1,SLC19A1 IS33455,IS38293,SP54988 dgv4798n71 21 45700511 45788806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914058,nsv914059 M 6533 0 3 COL18A1,SLC19A1 IS35484,IS40230,MS13727 nsv914060 21 45714094 45840089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531299 S 6533 0 1 COL18A1,SLC19A1 MS10386 esv1007584 21 45719047 45719047 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571939 S 3 1 0 COL18A1 HuRef esv1278020 21 45719138 45719138 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057532 S 2 1 0 COL18A1 HuRef nsv914061 21 45721649 45788806 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564438 S 6533 1 0 COL18A1,SLC19A1 IS30210 dgv4799n71 21 45723547 45806763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914065,nsv914063,nsv914062 M 6533 0 3 COL18A1,SLC19A1 IS33162,IS40799,MS18276 dgv4800n71 21 45736814 45788806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914069,nsv914068,nsv914064 M 6533 0 4 COL18A1,SLC19A1 IS38403,IS41410,MS11237,SP54725 nsv914066 21 45736814 45878390 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596514 S 6533 1 0 COL18A1,SLC19A1 IS40552 nsv459308 21 45739470 45761386 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536084 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL18A1,SLC19A1 HGDP00684 dgv4801n71 21 45739470 45840089 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914070,nsv914067 M 6533 0 2 COL18A1,SLC19A1 IS39363,MS10123 esv2438585 21 45743251 45744215 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367646 S 1 1 0 COL18A1 NA18507 nsv834112 21 45746579 45872681 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455636 S 95 1 0 COL18A1,SLC19A1 nsv914071 21 45749213 45761386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508669 S 6533 0 1 COL18A1,SLC19A1 SP54684 dgv4802n71 21 45749213 45806763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914073,nsv914072 M 6533 0 2 COL18A1,SLC19A1 IS40502,SP54043 dgv4803n71 21 45750979 45784709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914075,nsv914074 M 6533 0 2 COL18A1,SLC19A1 SP50159,SP54782 nsv187181 21 45751458 45751522 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205759 M 24 COL18A1 nsv914076 21 45769452 45840089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573246 S 6533 0 1 SLC19A1 IS33248 nsv187444 21 45771993 45772091 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv206022 M 24 SLC19A1 esv1055733 21 45781935 45781935 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143866 S 2 1 0 SLC19A1 HuRef nsv3542 21 45784055 45817158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2352 S 9 1 0 SLC19A1 NA18555 esv25569 21 45797861 45799849 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15489 S 451 1 0 "" NA12044 nsv914077 21 45822976 45915789 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531037 S 6533 0 1 "" MS10311 esv2579154 21 45850234 45850829 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256931 S 1 1 0 "" NA18507 esv29280 21 45850436 45851957 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12187 S 451 5 0 "" NA11995,NA12414,NA18511,NA18907,NA19099 nsv821079 21 45850436 45851957 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420134 S 1 1 0 "" NA10851 esv1166010 21 45850465 45850465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980665 S 2 1 0 "" HuRef esv1051016 21 45851359 45851359 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076230 S 2 1 0 "" HuRef esv26680 21 45852135 45854288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12830 S 451 0 1 "" NA18858 esv270465 21 45866771 45867098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571728,essv2546562,essv2526145,essv2571069,essv2556565,essv2568122,essv2545306,essv2523197,essv2550625,essv2535227,essv2552057,essv2547501,essv2558645,essv2564329,essv2553860,essv2576460,essv2519982,essv2564020,essv2530594,essv2561830,essv2537372,essv2528267,essv2546961,essv2544614,essv2523610,essv2553014,essv2541446,essv2564800,essv2534650,essv2539741,essv2549492,essv2560050,essv2566124,essv2567967,essv2529059,essv2541495,essv2570062,essv2572429,essv2559348,essv2551052,essv2562496,essv2539298,essv2573023,essv2555619,essv2573499,essv2543303,essv2575206,essv2526350,essv2523944,essv2572705,essv2568835,essv2546024,essv2574124,essv2549128 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11840,NA11881,NA11918,NA11993,NA11994,NA11995,NA12003,NA12004,NA12155,NA12249,NA12489,NA12717,NA12750,NA12751,NA12763,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18526,NA18537,NA18542,NA18545,NA18558,NA18561,NA18563,NA18564,NA18570,NA18572,NA18577,NA18579,NA18592,NA18593,NA18609,NA18638,NA18858,NA18909,NA18912,NA18942,NA18945,NA18964,NA18965,NA19102,NA19114,NA19129,NA19143,NA19147,NA19239,NA19240 esv274355 21 45866771 45867098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581986,essv2582542,essv2582956,essv2584855,essv2583703 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv994264 21 45877289 45878979 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586125 S 3 0 1 "" HuRef esv22617 21 45877399 45881374 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14982,esv14100 M 451 0 6 "" NA06985,NA11995,NA12414,NA19147,NA19225,NA19240 esv3614 21 45881826 45882361 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26055 S 1 0 1 Single Asian sample YH "" YH esv1744125 21 45983683 45983683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845168 S 2 1 0 "" HuRef esv1172910 21 45990996 45990996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285936 S 2 1 0 "" HuRef nsv509803 21 46020679 46093957 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623840,nssv621141 M 4 2 0 LOC100129027 NA15510,NA18994 esv2835 21 46041874 46042043 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25276 S 1 0 0 Single Asian sample YH "" YH esv1498706 21 46042102 46042102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840747 S 2 1 0 "" HuRef esv4735 21 46042651 46043142 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27176 S 1 0 0 Single Asian sample YH "" YH nsv914078 21 46043172 46136114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552807 S 6533 0 1 LOC100129027,PCBP3 MS19630 dgv1374e1 21 46067460 46144196 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv928,essv9536 M 271 0 0 LOC100129027,PCBP3 NA18861 nsv914079 21 46067502 46474790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547084 S 6533 0 1 C21orf56,COL6A1,COL6A2,FTCD,LOC100129027,LSS,MCM3AP-AS1,PCBP3 MS17208 dgv4804n71 21 46090214 46145233 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914080,nsv914081 M 6533 0 2 PCBP3 MS10769,MS18276 nsv914082 21 46090214 46162435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575233,nssv1592494 M 6533 0 2 PCBP3 IS33684,IS39233 nsv914083 21 46090214 46278382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586117 S 6533 0 1 COL6A1,PCBP3 IS37646 esv8638 21 46096667 46096753 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31079 S 1 1 0 PCBP3 SJK esv2072832 21 46103428 46103865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615305 S 1 0 1 PCBP3 NA18507 nsv510508 21 46108350 46114350 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621509 S 4 0 1 PCBP3 NA15510 nsv914084 21 46112881 46151094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576999 S 6533 0 1 PCBP3 IS34304 esv26520 21 46117892 46128253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14817 S 451 0 1 PCBP3 NA18861 nsv509804 21 46123941 46479482 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623841,nssv619864,nssv619865,nssv619866,nssv619867 M 4 2 0 C21orf56,COL6A1,COL6A2,FTCD,LSS,MCM3AP,MCM3AP-AS1,PCBP3 NA10860,NA18994 esv1008909 21 46130487 46131167 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586161 S 3 1 0 PCBP3 HuRef esv7183 21 46135474 46135532 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29624 S 1 1 0 PCBP3 SJK esv23956 21 46140770 46141615 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20961 S 451 3 0 PCBP3 NA12489,NA18907,NA19099 esv999960 21 46142630 46142707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569989 S 3 0 1 PCBP3 HuRef esv21614 21 46142655 46143315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14726 S 451 0 1 PCBP3 NA19129 esv5347 21 46142837 46143407 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27788 S 1 0 1 Single Asian sample YH PCBP3 YH esv2207359 21 46146438 46146859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4523289 S 1 0 1 PCBP3 NA18507 nsv187323 21 46146571 46146630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205901 M 24 PCBP3 esv1203710 21 46146641 46146701 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129775 S 2 0 1 PCBP3 HuRef esv26923 21 46153982 46154501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13111 S 451 0 1 PCBP3 NA18916 nsv513578 21 46154148 46154876 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626830 S 1 1 0 PCBP3 1 esv274454 21 46157611 46157696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581032 S 7 1 0 Samples from several populations that are part of the HapMap project. PCBP3 hapmap_pooled_sample_set esv25358 21 46162614 46163279 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10743 S 451 1 0 PCBP3 NA12489 dgv4805n71 21 46166544 46278382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914085,nsv914086,nsv914087 M 6533 0 3 COL6A1,PCBP3 MS13095,MS13770,MS17697 esv2079500 21 46167969 46168618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860245 S 1 0 1 PCBP3 NA18507 esv2419106 21 46168083 46168518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793297 S 1 0 1 PCBP3 NA18507 esv990814 21 46168096 46172536 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563930 S 3 1 0 PCBP3 HuRef esv28816 21 46168124 46169669 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12737 S 451 1 5 PCBP3 NA06985,NA12414,NA12878,NA18517,NA19099,NA19129 esv1789041 21 46168190 46168322 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921561 S 2 0 1 PCBP3 HuRef esv1362329 21 46169470 46169470 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728372 S 2 1 0 PCBP3 HuRef esv2479870 21 46171162 46172046 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236710 S 1 1 0 PCBP3 NA18507 nsv470910 21 46178203 46909416 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544803 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C21orf56,C21orf58,COL6A1,COL6A2,DIP2A,FTCD,LSS,MCM3AP,MCM3AP-AS1,PCBP3,PCNT,PRMT2,S100B,YBEY HGDP00452 nsv914088 21 46183343 46243440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591467 S 6533 0 1 COL6A1,PCBP3 IS38840 dgv4806n71 21 46207484 46308227 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914090,nsv914089,nsv914091 M 6533 0 4 COL6A1 IS31045,IS34235,MS10311,SP54956 esv2610548 21 46211752 46214540 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267611 S 1 0 1 "" NA18507 esv2062762 21 46212386 46214346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677517 S 1 0 1 "" NA18507 nsv821249 21 46212425 46214678 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420135 S 1 0 1 "" NA10851 esv26503 21 46212484 46214618 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12715,esv10465 M 451 15 7 "" NA06985,NA11931,NA11995,NA12006,NA12287,NA12749,NA12776,NA18502,NA18505,NA18508,NA18517,NA18858,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1451333 21 46225329 46225329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832990 S 2 1 0 "" HuRef esv1409667 21 46232158 46232158 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991847 S 2 1 0 COL6A1 HuRef esv1025241 21 46232180 46232180 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126000 S 2 1 0 COL6A1 HuRef esv1561412 21 46234806 46234806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776703 S 2 1 0 COL6A1 HuRef dgv4807n71 21 46235359 46255459 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914093,nsv914092 M 6533 0 4 COL6A1 SP50159,SP54782,SP54988,SP55992 dgv4808n71 21 46240752 46255459 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914094,nsv914096 M 6533 0 3 COL6A1 SP54043,SP54725,SP55021 nsv914095 21 46242039 46252267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507592 S 6533 0 1 COL6A1 SP54657 dgv254n21 21 46243440 46248774 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524388,nsv521579 M 2026 0 2 COL6A1 nsv513579 21 46244321 46244388 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626831 S 1 1 0 COL6A1 1 esv1396032 21 46244324 46244324 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054420 S 2 1 0 COL6A1 HuRef esv26627 21 46250288 46250823 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13808 S 451 1 0 "" NA19257 nsv828914 21 46255839 46265991 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435605 S 31 0 1 "" NA18942 esv1004822 21 46255929 46255996 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574362 S 3 0 1 "" HuRef nsv828915 21 46256805 46263858 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422630 S 31 1 0 "" NA18969 esv2520405 21 46269980 46271413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380960 S 1 0 1 "" NA18507 nsv914097 21 46270219 46329512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550038 S 6533 0 1 "" MS18276 nsv3544 21 46270384 46291274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4563 S 9 1 0 "" NA12878 esv2613059 21 46276837 46277656 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219010 S 1 1 0 "" NA18507 esv1182402 21 46277467 46277467 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355426 S 2 1 0 "" HuRef nsv820751 21 46278532 46280146 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420136 S 1 0 1 "" NA10851 esv28102 21 46278567 46279940 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15269 S 451 14 0 "" NA06985,NA07045,NA11993,NA12287,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18858,NA18907,NA19099,NA19257 esv1051484 21 46278824 46279216 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706736 S 2 0 1 "" HuRef esv1123183 21 46286217 46286217 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045144 S 2 1 0 "" HuRef esv1454898 21 46286304 46286354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773137 S 2 0 1 "" HuRef esv996599 21 46291810 46292150 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568748 S 3 0 1 "" HuRef esv6854 21 46292082 46292386 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29295 S 1 0 1 "" SJK esv1790567 21 46292146 46292146 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131737 S 2 1 0 "" HuRef dgv4809n71 21 46292322 46474790 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914098,nsv914101 M 6533 0 2 C21orf56,COL6A2,FTCD,LSS,MCM3AP-AS1 IS37646,MS16153 esv994022 21 46295541 46300547 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563975 S 3 1 0 "" HuRef nsv519834 21 46297069 46327739 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703983,nssv658979,nssv678758 M 2026 1 2 "" nsv525728 21 46297069 46407934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701892 S 2026 0 1 C21orf56,COL6A2,FTCD esv1058680 21 46302706 46302794 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977735 S 2 0 1 "" HuRef esv2576145 21 46313006 46313184 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295213 S 1 0 1 "" NA18507 esv8349 21 46313240 46313415 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30790 S 1 0 1 "" SJK nsv914099 21 46315442 46372439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588290 S 6533 0 1 COL6A2 IS38176 dgv4810n71 21 46315442 46413527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914100,nsv914102,nsv914104,nsv914105,nsv914103 M 6533 0 5 C21orf56,COL6A2,FTCD IS32888,IS39233,IS39363,IS40502,MS18276 esv1184472 21 46329852 46329852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343398 S 2 1 0 "" HuRef dgv4811n71 21 46339313 46438897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914106,nsv914120,nsv914107,nsv914115,nsv914114,nsv914108 M 6533 0 7 C21orf56,COL6A2,FTCD,LSS IS33630,IS35484,MS10123,MS10769,MS13095,MS13727,MS13770 nsv914109 21 46350668 46374041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576309,nssv1599168 M 6533 0 2 COL6A2 IS34005,IS41410 dgv4812n71 21 46350668 46416198 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914113,nsv914112,nsv914111,nsv914110 M 6533 0 6 C21orf56,COL6A2,FTCD IS33162,IS33684,IS34304,IS34407,IS37172,IS40230 esv1003876 21 46355118 46355118 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578623 S 3 1 0 COL6A2 HuRef esv1216777 21 46355148 46355148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869629 S 2 1 0 COL6A2 HuRef nsv187142 21 46355929 46356052 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205720 M 24 COL6A2 esv1002133 21 46355933 46355994 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573220 S 3 0 1 COL6A2 HuRef nsv470911 21 46359676 46416198 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544804 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C21orf56,COL6A2,FTCD HGDP00288 nsv914116 21 46359676 46474790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531039 S 6533 0 1 C21orf56,COL6A2,FTCD,LSS,MCM3AP-AS1 MS10311 nsv459311 21 46360974 46374041 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536085 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL6A2 HGDP00512 dgv4813n71 21 46363388 46413527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914119,nsv914117,nsv914121,nsv914118 M 6533 0 5 C21orf56,COL6A2,FTCD IS32737,IS33239,IS39417,MS10698,MS16315 esv995411 21 46364466 46364476 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582819 S 3 1 0 COL6A2 HuRef esv1546631 21 46364477 46364477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963378 S 2 1 0 COL6A2 HuRef nsv187077 21 46364478 46364478 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205655 M 24 COL6A2 dgv255n21 21 46367207 46399800 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv517870,nsv527953 M 2026 2 0 COL6A2,FTCD esv1007380 21 46370274 46370743 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586794 S 3 1 0 COL6A2 HuRef dgv4814n71 21 46372775 46416198 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914126,nsv914122 M 6533 0 2 C21orf56,COL6A2,FTCD IS33797,SP54956 dgv4815n71 21 46374057 46399800 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914123,nsv914125 M 6533 0 2 COL6A2,FTCD SP54725,SP54988 nsv914124 21 46375182 46427893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589785 S 6533 0 1 C21orf56,COL6A2,FTCD IS38403 esv3532 21 46377800 46378354 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25973 S 1 0 1 Single Asian sample YH "" YH esv1148278 21 46379057 46379057 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240972 S 2 1 0 "" HuRef dgv4816n71 21 46383422 46434105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914128,nsv914127,nsv914131,nsv914129 M 6533 0 7 C21orf56,FTCD,LSS IS33504,IS38176,IS39258,IS41634,MS11237,MS11306,MS11726 esv2361731 21 46384418 46384973 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782200 S 1 0 1 FTCD NA18507 esv23673 21 46384439 46385493 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11292 S 451 0 6 FTCD NA12239,NA12878,NA18508,NA18916,NA19190,NA19240 nsv821035 21 46384439 46385493 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420138 S 1 1 0 FTCD NA10851 esv1494368 21 46384766 46384766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711545 S 2 1 0 FTCD HuRef nsv828916 21 46385064 46386639 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435606 S 31 0 1 FTCD NA18942 nsv513580 21 46388567 46389227 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626832 S 1 1 0 FTCD 1 nsv914130 21 46396672 46416198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595764 S 6533 0 1 C21orf56,FTCD IS40318 nsv914132 21 46396672 46444212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586840 S 6533 0 1 C21orf56,FTCD,LSS IS37985 nsv914133 21 46407934 46437914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534450 S 6533 0 1 C21orf56,LSS MS11579 nsv519904 21 46407934 46705737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694353 S 2026 0 1 C21orf56,C21orf58,DIP2A,LSS,MCM3AP,MCM3AP-AS1,PCNT,YBEY nsv3545 21 46412693 46424742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4564 S 9 1 0 C21orf56 NA12878 esv25460 21 46413515 46416349 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18171 S 451 0 17 C21orf56 NA07045,NA11931,NA12006,NA12156,NA12749,NA12776,NA12828,NA15510,NA18505,NA18511,NA18907,NA18916,NA19108,NA19114,NA19129,NA19190,NA19257 nsv187209 21 46414593 46414671 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205787 M 24 C21orf56 esv1674225 21 46414679 46414875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803590 S 2 0 1 C21orf56 HuRef esv2076361 21 46427770 46428346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836710 S 1 0 1 C21orf56 NA18507 esv25247 21 46427788 46428778 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15601 S 451 0 5 C21orf56 NA18858,NA18907,NA18916,NA19114,NA19129 esv2587417 21 46433240 46435611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321699 S 1 0 1 LSS NA18507 esv2338420 21 46434010 46435466 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985762 S 1 0 1 LSS NA18507 esv29868 21 46434207 46435262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10371 S 451 0 2 LSS NA18502,NA19240 esv1986816 21 46436739 46437183 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677526 S 1 0 1 LSS NA18507 nsv3546 21 46442701 46473658 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5911 S 9 1 0 LSS,MCM3AP-AS1 NA19129 nsv914134 21 46457423 46536613 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560486 S 6533 1 0 LSS,MCM3AP,MCM3AP-AS1,YBEY MS24498 esv2641041 21 46480931 46483582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205078 S 1 0 1 MCM3AP,MCM3AP-AS1 NA18507 esv2393806 21 46481585 46483279 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511874 S 1 0 1 MCM3AP,MCM3AP-AS1 NA18507 esv8319 21 46481776 46483171 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30760 S 1 0 1 MCM3AP,MCM3AP-AS1 SJK esv22993 21 46481946 46483100 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18584 S 451 0 4 MCM3AP,MCM3AP-AS1 NA07045,NA12828,NA18511,NA18517 nsv527355 21 46503202 46687453 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703784 S 2026 1 0 C21orf58,MCM3AP,PCNT,YBEY nsv914135 21 46505469 46586802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591366 S 6533 0 1 C21orf58,MCM3AP,PCNT,YBEY IS38735 dgv4817n71 21 46505469 46725422 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914136,nsv914137,nsv914140,nsv914138 M 6533 0 5 C21orf58,DIP2A,MCM3AP,PCNT,YBEY IS35484,IS37646,IS41634,MS16153,MS18276 esv6085 21 46525158 46525210 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28526 S 1 1 0 MCM3AP SJK nsv3547 21 46528129 46565858 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4565,nssv6961,nssv5912 M 9 3 0 C21orf58,MCM3AP,YBEY NA12156,NA12878,NA19129 nsv914139 21 46531165 46610922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516756 S 6533 1 0 C21orf58,PCNT,YBEY SP56926 esv2320022 21 46536696 46537214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659018 S 1 0 1 YBEY NA18507 nsv821184 21 46536813 46539211 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420139 S 1 0 1 YBEY NA10851 nsv914141 21 46536840 46581847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507499,nssv1506140 M 6533 0 2 C21orf58,PCNT,YBEY SP54043,SP54725 esv27873 21 46536848 46539150 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18035 S 451 36 0 YBEY NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1185684 21 46536854 46536854 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160817 S 2 1 0 YBEY HuRef esv1190668 21 46537814 46538998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806401 S 2 0 1 YBEY HuRef nsv187224 21 46542789 46543385 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv205802 M 24 "" nsv914142 21 46596896 46690655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531040 S 6533 0 1 PCNT MS10311 esv991505 21 46608339 46626365 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563608 S 3 0 0 PCNT HuRef dgv4818n71 21 46617302 46690655 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914143,nsv914144,nsv914145 M 6533 0 4 PCNT IS32888,IS39233,MS19226,MS19414 esv1006886 21 46624205 46629247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564956 S 3 0 1 PCNT HuRef nsv433176 21 46626358 46628866 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463057 S 9 0 1 Samples from several populations that are part of the HapMap project. PCNT NA18555 esv23138 21 46626372 46629012 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17943 S 451 40 0 PCNT NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821371 21 46626372 46629012 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420140 S 1 0 1 PCNT NA10851 esv1965087 21 46626988 46627549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815426 S 1 0 1 PCNT NA18507 nsv513581 21 46642457 46643097 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626833 S 1 1 0 PCNT 1 esv2518438 21 46643519 46644109 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196939 S 1 1 0 PCNT NA18507 esv26585 21 46647536 46648551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13063 S 451 0 7 PCNT NA11894,NA12006,NA12287,NA12414,NA12489,NA18916,NA19240 esv4867 21 46657346 46657604 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27308 S 1 0 1 Single Asian sample YH PCNT YH esv2292596 21 46657558 46657910 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604068 S 1 0 1 PCNT NA18507 nsv515801 21 46660550 46687453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687090,nssv655007,nssv661043,nssv667529,nssv661542,nssv669604,nssv666195,nssv697235,nssv674689,nssv663425,nssv664825,nssv674637,nssv678574,nssv665651,nssv660441,nssv665273,nssv666925,nssv657692,nssv685894 M 2026 0 19 PCNT nsv819608 21 46660550 46687453 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418834 S 2 1 0 PCNT AK1 nsv914146 21 46662551 46682676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509394 S 6533 0 1 PCNT SP54782 nsv459312 21 46680534 46810083 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536086 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DIP2A,PCNT HGDP01156 esv2014405 21 46681458 46681868 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571688 S 1 0 1 PCNT NA18507 nsv3548 21 46781683 46789014 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6962 S 9 1 0 DIP2A NA12156 nsv914147 21 46783085 46807080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531041,nssv1550041 M 6533 0 2 DIP2A MS10311,MS18276 nsv459313 21 46788687 46807080 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536087 S 1557 0 1 DIP2A 1780854483_A nsv914148 21 46804229 46874816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589786 S 6533 0 1 DIP2A,S100B IS38403 nsv523038 21 46804998 46810083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698721 S 2026 0 1 DIP2A nsv526768 21 46810429 46811975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703120 S 2026 0 1 DIP2A nsv528947 21 46810511 46874816 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705639 S 2026 1 0 DIP2A,S100B dgv1375e1 21 46811098 46902240 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7487,esv1322 M 271 0 0 DIP2A,PRMT2,S100B NA18561 esv34393 21 46840100 46902240 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979467,essv6979466,essv6990368,essv6986875,essv6979468 M 771 1 0 PRMT2,S100B NA18561 nsv527542 21 46840297 46852308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704003 S 2026 0 1 S100B nsv528495 21 46840297 46877266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705100 S 2026 0 1 S100B nsv9864 21 46880148 46883057 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24345,nssv27781,nssv25641 M 31 3 0 Samples from several populations that are part of the HapMap project. PRMT2 NA18563,NA18942,NA18972 esv1540677 21 46889619 46889619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593352 S 2 1 0 PRMT2 HuRef nsv9865 21 46892366 46896763 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28690 S 31 1 0 Samples from several populations that are part of the HapMap project. PRMT2 NA19221 esv2504225 21 46910469 46910583 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229297 S 1 0 1 "" NA18507 esv999640 22 14430035 14443806 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586148 S 3 0 1 "" HuRef esv25550 22 14430035 14843023 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16497,esv18810,esv12304,esv15251,esv21215,esv20542,esv14029,esv9905,esv10040,esv19537 M 451 5 24 OR11H1,POTEH NA06985,NA07037,NA07045,NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12776,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19257 nsv821525 22 14430035 14846688 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420141 S 1 1 0 OR11H1,POTEH NA10851 nsv9866 22 14432999 14848379 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25685,nssv26652,nssv26223,nssv27890,nssv27261,nssv25830,nssv27647,nssv27870,nssv22541,nssv25809,nssv25034,nssv22115,nssv27877,nssv25377,nssv25839,nssv28065,nssv28062,nssv25738,nssv26075,nssv25663,nssv27884,nssv25860,nssv25025,nssv24781,nssv27069,nssv28721,nssv26286,nssv25352,nssv25324,nssv26242,nssv27079,nssv25787,nssv27238,nssv27788,nssv27655,nssv25050 M 31 3 21 Samples from several populations that are part of the HapMap project. OR11H1,POTEH NA07048,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18537,NA18552,NA18563,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv172e55 22 14433758 15680320 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751932,esv2751933,esv2751934 M 771 3 0 ANKRD62P1-PARP4P3,CCT8L2,OR11H1,POTEH,psiTPTE22,XKR3 BEC_158,BEC_330,SPC_181 nsv428384 22 14440103 14563401 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453934,nssv453928,nssv453938,nssv453923,nssv453933,nssv453940,nssv453925,nssv453921,nssv453947,nssv453924,nssv453935,nssv453930,nssv453945,nssv453926,nssv453929,nssv453944,nssv453922,nssv453936,nssv453932,nssv453943,nssv453927,nssv453937,nssv453946,nssv453941,nssv453939 M 62 1 24 "" HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 dgv71n68 22 14453375 14660949 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834114,nsv834113 M 95 26 0 POTEH nsv469815 22 14459179 14636895 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649836 M 265 9 0 Samples from several populations that are part of the HapMap project. POTEH nsv471709 22 14459180 14636895 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550698,nssv550690,nssv550699,nssv550691,nssv550697,nssv550703,nssv550702,nssv550692,nssv550693,nssv550701,nssv550696,nssv550694,nssv550700,nssv550704,nssv550695 M 48 7 8 POTEH JK1051,NA10469,NA10493,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA15729,NA15732,NA15733,NA17014,NA17052,P86GA dgv1376e1 22 14461115 15657462 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7872,esv830,essv16175,essv23917,essv5494,essv14804,essv19803,essv23271 M 271 0 0 ANKRD62P1-PARP4P3,CCT8L2,OR11H1,POTEH,psiTPTE22,XKR3 NA07345,NA12814,NA12864,NA18506,NA18632,NA18870,NA19140 esv1002566 22 14473445 14473901 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577550 S 3 0 1 "" HuRef esv995567 22 14479642 14839377 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586187 S 3 0 1 OR11H1,POTEH HuRef nsv821691 22 14491957 14623461 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421329 S 31 0 1 "" esv33426 22 14504247 14884327 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98197,essv101337,essv96353 M 51 2 1 OR11H1,POTEH 21772,21805,22371 dgv1377e1 22 14509865 14563401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14395,essv117,essv645,essv24663,essv21328,essv17538,essv23537,essv304,essv16978,essv18237,essv24465,essv20252,essv3066,essv11815,essv18097,essv1784,essv10763,essv23851,essv537,essv24263,essv4294,essv2503,essv22153,essv6190,essv8774,essv19753,essv4891,essv3214,essv15226,essv22559,essv22961,essv23200,essv7738,essv9642,essv5826,essv7532,essv18659,essv7222,essv24077,essv19667,essv21830,essv12277,essv13565,essv22823,essv4467,essv21068,essv13710,essv20327,essv9205,essv14644,essv6634,essv15087,essv20770,essv19517,essv5191,essv5114,essv14173,essv23664,essv10329,essv16722,essv16264,essv1527,essv13750,essv5018,essv9883,essv5739,essv15575,essv20632,essv21404,essv18315,essv13641,essv16859,essv4712,essv1008,essv14286,essv11660,essv10200,essv12615,essv16484,essv20050,essv4026,essv24843,essv5229,essv19446,essv6227,essv20965,essv18857,essv17656,essv23980,essv13919,essv22519,essv7692,essv17289,essv11555,essv8358,essv24564,essv19966,essv13006,essv15667,essv9143,essv14067,essv9015,essv19105,essv7860,essv15341,essv5597,essv17057,essv12375,essv17114,essv9817,essv14978,essv4363,essv14430,essv2181,essv24425,essv21993,essv21169,essv17826,essv9723,essv13445,essv12731,essv2328,essv17617,essv17943,essv18717,essv2482,essv6353,essv12500,essv14701,essv3719,essv7394,essv20201,essv2068,essv11119,essv1216,essv15764,essv474,essv19018,essv20614,essv11922,essv3760,essv1116,essv17454,essv17273,essv2298,essv11739,essv2671,essv20151,essv8813,essv12787,essv23410,essv22219,essv3274 M 271 0 0 "" NA06991,NA06993,NA07000,NA07022,NA07048,NA07055,NA07056,NA07345,NA07348,NA07357,NA10831,NA10835,NA10846,NA10854,NA10856,NA10857,NA10859,NA10863,NA11829,NA11830,NA11832,NA11839,NA11840,NA11881,NA11882,NA11992,NA11995,NA12003,NA12004,NA12005,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12146,NA12156,NA12234,NA12236,NA12264,NA12707,NA12716,NA12740,NA12751,NA12753,NA12762,NA12801,NA12813,NA12864,NA12874,NA12878,NA12892,NA18500,NA18502,NA18503,NA18504,NA18506,NA18507,NA18508,NA18521,NA18523,NA18529,NA18532,NA18542,NA18545,NA18547,NA18552,NA18558,NA18561,NA18566,NA18573,NA18576,NA18577,NA18593,NA18603,NA18609,NA18611,NA18621,NA18622,NA18623,NA18624,NA18633,NA18635,NA18636,NA18854,NA18856,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18912,NA18913,NA18914,NA18940,NA18947,NA18949,NA18951,NA18952,NA18960,NA18961,NA18964,NA18966,NA18967,NA18968,NA18972,NA18974,NA18975,NA18978,NA18980,NA18981,NA18997,NA18998,NA18999,NA19003,NA19005,NA19092,NA19093,NA19094,NA19101,NA19119,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19140,NA19141,NA19142,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19201,NA19205,NA19207,NA19210,NA19211,NA19238 dgv1378e1 22 14526517 14563401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1352,essv19598 M 271 0 0 "" NA12155,NA19007 nsv511070 22 14679171 15059084 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622435 S 4 0 0 OR11H1 NA10860 nsv3549 22 14744334 14759719 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2353 S 9 0 1 "" NA18555 nsv498979 22 14744977 14750665 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585840 S 9 0 1 "" nsv834116 22 14747425 14952669 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455664,nssv1455663,nssv1455672,nssv1455668,nssv1455667,nssv1455666,nssv1455665,nssv1455670,nssv1455671,nssv1455669,nssv1455673,nssv1455677,nssv1455676,nssv1455675,nssv1455674 M 95 15 0 OR11H1 nsv469638 22 14759227 14899909 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649564 M 265 18 2 Samples from several populations that are part of the HapMap project. OR11H1 nsv471593 22 14759228 14899909 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549738,nssv549736,nssv549737,nssv549735 M 48 1 3 OR11H1 NA10493,NA10971,NA15733,NA17014 nsv471422 22 14828826 14829804 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548238,nssv548236,nssv548237 M 3 OR11H1 nsv514958 22 14829643 14829733 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627203 S 1414 0 0 OR11H1 nsv442501 22 14870976 15029985 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv820368 22 14884750 14937670 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420142 S 1 1 0 "" NA10851 esv27198 22 14884750 15008665 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13716,esv13055,esv21235,esv11820,esv15611,esv20470 M 451 6 4 "" NA11993,NA11995,NA12239,NA12287,NA12828,NA18505,NA18907,NA18916,NA19147,NA19257 nsv820492 22 14960816 14993907 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420143 S 1 1 0 "" NA10851 esv999990 22 15227884 15236016 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586490 S 3 0 1 "" HuRef esv21839 22 15228041 15430274 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12837,esv17262,esv12949,esv15161,esv19275,esv20308,esv18528,esv20169 M 451 13 16 "" NA06985,NA07037,NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18916,NA19108,NA19114,NA19190,NA19240,NA19257 nsv820697 22 15241227 15421753 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420144 S 1 1 0 "" NA10851 esv1694175 22 15247727 15247958 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355047 S 2 0 1 "" HuRef nsv3550 22 15255672 15298945 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7728 S 9 0 1 "" NA12156 dgv1379e1 22 15257135 15332978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7503,essv7461 M 271 0 0 "" NA18561,NA18633 essv18879 22 15258423 15437138 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07029 dgv18e196 22 15274543 15557348 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422448,esv2422342,esv2422318 M 181 3 0 ANKRD62P1-PARP4P3,CCT8L2,psiTPTE22 ND00706,ND01205,ND01583 nsv9867 22 15275625 15394044 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25881,nssv25059,nssv26260,nssv28722,nssv27896,nssv24806 M 31 2 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA11830,NA18502,NA18537,NA19221 nsv471178 22 15298334 15674251 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545473,nssv545472 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ANKRD62P1-PARP4P3,CCT8L2,psiTPTE22,XKR3 HGDP00587,HGDP00618 nsv517059 22 15298335 15681843 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692451,nssv678514,nssv689488,nssv682236,nssv693834,nssv661124,nssv666735,nssv656148,nssv699684,nssv684478,nssv671919,nssv690368,nssv688206,nssv653704,nssv701301,nssv702550,nssv703690,nssv670588 M 2026 16 2 ANKRD62P1-PARP4P3,CCT8L2,psiTPTE22,XKR3 nsv527637 22 15298335 15842185 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704106 S 2026 1 0 ANKRD62P1-PARP4P3,CCT8L2,GAB4,HSFY1P1,psiTPTE22,XKR3 essv989 22 15332978 15437138 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18964 esv1786137 22 15395346 15395346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770956 S 2 1 0 "" HuRef dgv723n67 22 15408855 15488606 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828918,nsv828917,nsv828921 M 31 4 0 CCT8L2,psiTPTE22 NA18949,NA18968,NA18969,NA18997 dgv539n27 22 15412698 15532611 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459317,nsv459319,nsv459315,nsv459316 M 1557 4 0 ANKRD62P1-PARP4P3,CCT8L2,psiTPTE22 HGDP00607,HGDP00618,HGDP00631,HGDP00653 dgv540n27 22 15412698 15674251 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459320,nsv459323,nsv459324,nsv459325,nsv459322,nsv459321 M 1557 6 0 ANKRD62P1-PARP4P3,CCT8L2,psiTPTE22,XKR3 1780862579_A,HGDP00587,NINDS_35,NINDS_39,NINDS_65,NINDS_66 esv2456369 22 15418953 15434282 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290623 S 1 0 1 "" NA18507 esv26428 22 15481527 15493870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19932 S 451 0 1 psiTPTE22 NA12287 esv32715 22 15569147 15575919 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94003,essv97921,essv95363,essv93403,essv96571,essv97733 M 51 6 0 "" 21802,21837,21872,22170,22261,22278 nsv3551 22 15605467 15610682 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10315 S 9 1 0 "" NA18956 nsv9869 22 15616047 15621430 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26094 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 esv28460 22 15636950 15641043 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19843 S 451 0 1 "" NA07037 nsv828922 22 15644895 15645352 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429526,nssv1432593 M 31 0 2 XKR3 AK12,AK20 nsv459333 22 15647006 15669118 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536100 S 1557 0 1 XKR3 NINDS_178 nsv834117 22 15657181 15809732 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455678 S 95 1 0 HSFY1P1,XKR3 esv23434 22 15688484 15692646 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13059 S 451 0 1 HSFY1P1 NA07045 nsv819074 22 15701636 15720389 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418676 S 2 1 0 "" AK1 esv25477 22 15713028 15713597 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14596 S 451 0 1 "" NA18502 nsv510509 22 15722903 15728903 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618464 S 4 0 1 "" CHM nsv9870 22 15730386 15770448 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22660 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv516349 22 15779211 15785173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690158,nssv691386,nssv685049,nssv667729 M 2026 0 4 "" nsv515942 22 15807037 15809434 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654406,nssv688555,nssv670072,nssv687640,nssv665395,nssv657079,nssv674638,nssv682495,nssv685779,nssv671646 M 2026 10 0 "" esv1004225 22 15826281 15834466 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565385 S 3 0 1 GAB4 HuRef esv269126 22 15883604 15883689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514646 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv828923 22 15930380 15977282 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431096 S 31 1 0 CECR6,IL17RA NA18968 esv25818 22 15940152 15943434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15249 S 451 0 1 "" NA12828 nsv509805 22 15942307 16128575 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621142 S 4 1 0 CECR1,CECR3,CECR5,CECR5-AS1,CECR6,IL17RA NA15510 nsv521478 22 15947699 15955800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698090 S 2026 0 1 IL17RA nsv518600 22 15952941 15955800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696046 S 2026 0 1 IL17RA nsv519563 22 15965441 15969246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676115,nssv697900,nssv656896,nssv663006,nssv658434,nssv681001 M 2026 0 6 IL17RA nsv828924 22 15977283 16035043 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431107 S 31 1 0 CECR5,CECR5-AS1,CECR6 NA18968 esv1297833 22 15997211 15997525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740182 S 2 0 1 "" HuRef nsv526946 22 15998142 16014050 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703316 S 2026 0 1 CECR5 esv1006805 22 16005310 16008587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563533 S 3 0 1 CECR5 HuRef esv29321 22 16007214 16008539 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11660 S 451 1 0 CECR5 NA19257 esv1195567 22 16007344 16008150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020115 S 2 0 1 CECR5 HuRef esv2190025 22 16034519 16034940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648839 S 1 0 1 "" NA18507 nsv528777 22 16045413 16060519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705442 S 2026 0 1 CECR1 nsv191229 22 16045746 16045801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209807 M 24 CECR1 esv1443377 22 16045784 16045840 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248450 S 2 0 1 CECR1 HuRef nsv519933 22 16049306 16050256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697134 S 2026 0 1 CECR1 nsv191400 22 16062893 16069749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209978 M 24 CECR1 nsv520588 22 16077781 16080284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681444,nssv672870 M 2026 0 2 "" esv2460336 22 16084916 16085944 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255654 S 1 1 0 "" NA18507 esv268809 22 16085267 16085618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519327,essv2517032,essv2514909,essv2517948,essv2517777,essv2516198,essv2516839,essv2518997,essv2515235,essv2518900,essv2518405,essv2519386 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11931,NA12812,NA12872,NA12878,NA12891,NA12892,NA19141,NA19238,NA19239,NA19240 esv273104 22 16085271 16085614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581670,essv2582736,essv2583128,essv2584294,essv2584394,essv2583406 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1019314 22 16085308 16085308 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001263 S 2 1 0 "" HuRef nsv191371 22 16110717 16111030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209949 M 24 "" nsv510801 22 16128575 16169583 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617445 S 4 0 1 "" CHM nsv3552 22 16137735 16173992 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6963,nssv2354,nssv4566 M 9 0 3 "" NA12156,NA12878,NA18555 nsv511640 22 16150181 16154858 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626274 S 1 0 1 "" 1 nsv512643 22 16150221 16159301 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625259 S 1 0 1 "" 1 nsv828925 22 16150364 16154205 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422321 S 31 0 1 "" NA18997 esv27605 22 16150384 16160170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21414,esv15639 M 451 0 13 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878 nsv514959 22 16150457 16154064 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628366 S 1414 0 1 "" nsv459335 22 16194811 16295430 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536101 S 1557 1 0 "" NINDS_173 nsv834118 22 16219550 16382809 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455679 S 95 0 1 CECR2 nsv513582 22 16229339 16230527 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626834 S 1 1 0 "" 1 esv1445753 22 16243746 16243746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160610 S 2 1 0 "" HuRef esv2392011 22 16264108 16264752 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694792 S 1 0 1 "" NA18507 esv4131 22 16264177 16264644 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26572 S 1 0 1 Single Asian sample YH "" YH esv2575631 22 16264232 16264562 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217096 S 1 0 1 "" NA18507 esv7333 22 16264240 16264564 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29774 S 1 0 1 "" SJK nsv513583 22 16268505 16269930 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626835 S 1 1 0 "" 1 esv1698398 22 16269119 16269119 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787051 S 2 1 0 "" HuRef nsv526826 22 16270558 16699179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703183 S 2026 1 0 ATP6V1E1,BCL2L13,BID,CECR2,MICAL3,MIR3198-1,SLC25A18 esv2102074 22 16278351 16278801 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938290 S 1 0 1 "" NA18507 nsv914149 22 16319816 16381375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544110 S 6533 1 0 CECR2 MS16259 nsv428385 22 16350973 17254216 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453957,nssv453950,nssv453962,nssv453951,nssv453949,nssv453961,nssv453958,nssv453960,nssv453959,nssv453956,nssv453952,nssv453963,nssv453954,nssv453955 M 62 6 8 ATP6V1E1,BCL2L13,BID,CECR2,FLJ41941,GGT3P,MICAL3,MIR3198-1,PEX26,SLC25A18,TUBA8,USP18 HGDP00449,HGDP00460,HGDP00463,HGDP00472,HGDP00473,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01094,NA18498,NA19147,NA19181,NA19257 nsv512644 22 16383128 16385679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625260 S 1 0 1 CECR2 1 nsv820372 22 16383539 16384115 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420145 S 1 0 1 CECR2 NA10851 nsv828926 22 16383539 16384115 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423901,nssv1427983,nssv1440773,nssv1439405,nssv1431608,nssv1436288,nssv1431767,nssv1429527,nssv1423071,nssv1431039,nssv1438545,nssv1437883,nssv1437177,nssv1434825,nssv1423534,nssv1435608,nssv1422322,nssv1428770,nssv1424699,nssv1432594,nssv1427203,nssv1431118,nssv1422653,nssv1440076,nssv1430287,nssv1426329,nssv1433376,nssv1434126 M 31 28 0 CECR2 AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv438324 22 16396508 16398604 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470806,nssv470804,nssv470809,nssv470805,nssv470808 M 269 0 5 Samples from several populations that are part of the HapMap project. CECR2 NA18973,NA18991,NA18992,NA18994,NA19007 nsv9871 22 16404735 16546307 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27301 S 31 0 1 Samples from several populations that are part of the HapMap project. ATP6V1E1,BCL2L13,CECR2,SLC25A18 NA18504 nsv510802 22 16409785 16467657 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619019 S 4 0 1 ATP6V1E1,CECR2,SLC25A18 NA10860 nsv914150 22 16413199 16456546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547085 S 6533 0 1 ATP6V1E1,CECR2,SLC25A18 MS17208 nsv3553 22 16413301 16470862 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4567,nssv7730,nssv2355 M 9 0 3 ATP6V1E1,CECR2,SLC25A18 NA12156,NA12878,NA18555 esv2029533 22 16427174 16427915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606126 S 1 0 1 SLC25A18 NA18507 esv4931 22 16427342 16427784 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27372 S 1 0 1 Single Asian sample YH SLC25A18 YH esv7255 22 16427369 16427709 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29696 S 1 0 1 SLC25A18 SJK esv1371480 22 16427375 16427733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198501 S 2 0 1 SLC25A18 HuRef nsv511650 22 16435234 16442595 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626285 S 1 0 1 SLC25A18 1 nsv914151 22 16435605 16656101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544111 S 6533 1 0 ATP6V1E1,BCL2L13,BID,MICAL3,MIR3198-1,SLC25A18 MS16259 esv2530228 22 16436536 16439694 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198338 S 1 0 1 SLC25A18 NA18507 nsv436351 22 16436845 16440999 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465756 S 2 0 1 Samples from several populations that are part of the HapMap project. SLC25A18 NA18505 esv2533793 22 16436895 16441089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297847 S 1 0 1 SLC25A18 NA18507 esv991669 22 16437227 16440883 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563897 S 3 0 1 SLC25A18 HuRef nsv512645 22 16437430 16440490 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625261 S 1 0 1 SLC25A18 1 esv2170081 22 16437588 16440623 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638160 S 1 0 1 SLC25A18 NA18507 nsv498980 22 16437750 16440478 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585841 S 9 0 1 SLC25A18 esv1116778 22 16437770 16440477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815391 S 2 0 1 SLC25A18 HuRef nsv828927 22 16437772 16438916 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431768,nssv1439406,nssv1423546,nssv1427984,nssv1437130,nssv1431129,nssv1433377,nssv1427204,nssv1431619,nssv1422664,nssv1430288,nssv1422323,nssv1435609,nssv1425456 M 31 0 14 SLC25A18 AK14,AK18,AK2,AK6,AK8,NA18547,NA18592,NA18942,NA18947,NA18968,NA18969,NA18972,NA18973,NA18997 nsv828928 22 16437772 16439807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437884,nssv1437178,nssv1440775,nssv1428771,nssv1424700,nssv1426331,nssv1440077 M 31 0 7 SLC25A18 AK10,AK4,NA18537,NA18542,NA18564,NA18582,NA18949 esv23474 22 16437972 16439807 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12396 S 451 13 0 SLC25A18 NA11894,NA11993,NA12489,NA12776,NA15510,NA18505,NA18517,NA18858,NA18907,NA19099,NA19108,NA19114,NA19240 nsv820867 22 16437972 16439807 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420146 S 1 0 1 SLC25A18 NA10851 esv33220 22 16437998 16438709 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101509,essv101170,essv93965,essv95187,essv98208,essv94701,essv94344,essv97960,essv93160,essv97377,essv101714,essv99069,essv92976,essv92788,essv93718,essv96170,essv96065,essv93451,essv93374,essv99591,essv92639,essv99351,essv100228,essv100491,essv100318,essv98499,essv96412 M 51 0 27 SLC25A18 21603,21618,21634,21721,21772,21791,21808,21837,21863,21879,21909,21938,21939,21944,21972,22007,22127,22128,22170,22217,22233,22275,22286,22298,22300,22352,22371 esv2272803 22 16479414 16480038 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526115 S 1 0 1 ATP6V1E1 NA18507 nsv191259 22 16479533 16479842 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209837 M 24 ATP6V1E1 esv1426742 22 16494356 16494408 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642167 S 2 0 1 "" HuRef esv22768 22 16506982 16509450 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11637 S 451 0 2 BCL2L13 NA18508,NA19129 nsv914152 22 16510209 16706162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582515 S 6533 0 1 BCL2L13,BID,MICAL3,MIR3198-1 IS35974 esv1008890 22 16519914 16530356 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565549 S 3 0 1 BCL2L13 HuRef nsv828929 22 16520781 16524784 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432595 S 31 1 0 BCL2L13 AK20 esv28002 22 16521502 16524456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9786 S 451 0 2 BCL2L13 NA12006,NA12044 nsv820926 22 16521502 16524784 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420147 S 1 0 1 BCL2L13 NA10851 nsv828930 22 16521502 16524784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439409,nssv1440776,nssv1434826 M 31 0 3 BCL2L13 NA18564,NA18570,NA18973 nsv834119 22 16527899 16658760 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455680 S 95 0 1 BCL2L13,BID,MICAL3,MIR3198-1 nsv524899 22 16541543 16543795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700908 S 2026 0 1 BCL2L13 nsv834120 22 16596656 16767204 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455683,nssv1455681,nssv1455682,nssv1455684 M 95 0 4 BID,MICAL3,MIR3198-1 nsv914153 22 16630268 16643268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510432 S 6533 0 1 BID SP54956 dgv4819n71 22 16630268 16713902 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914154,nsv914156 M 6533 0 2 BID,MICAL3 MS16153,MS17208 nsv518202 22 16638382 16643268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695625 S 2026 0 1 "" nsv527393 22 16638382 16650779 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703828 S 2026 0 1 MICAL3 nsv914155 22 16638382 16687634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592497 S 6533 0 1 MICAL3 IS39233 nsv191363 22 16640537 16640593 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209941 M 24 "" esv2493326 22 16663628 16665168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249242 S 1 0 1 MICAL3 NA18507 esv1920921 22 16663720 16664401 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619968 S 1 0 1 MICAL3 NA18507 esv3910 22 16663727 16664326 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26351 S 1 0 1 Single Asian sample YH MICAL3 YH nsv509806 22 16668976 16746515 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623842 S 4 1 0 MICAL3 NA18994 nsv914157 22 16696620 16822522 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598322 S 6533 1 0 MICAL3 IS40825 esv2421190 22 16697806 16698182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664630 S 1 0 1 MICAL3 NA18507 esv993104 22 16697980 16698053 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585204 S 3 0 1 MICAL3 HuRef nsv914158 22 16713902 16872749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544112 S 6533 1 0 MICAL3 MS16259 nsv3555 22 16722380 16756260 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5913,nssv4568 M 9 2 0 MICAL3 NA12878,NA19129 esv2543355 22 16738740 16740433 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350907 S 1 0 1 MICAL3 NA18507 dgv19e194 22 16739337 16739990 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2198169,esv2122695 M 1 0 1 MICAL3 NA18507 esv27985 22 16739407 16740503 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18333 S 451 1 4 MICAL3 NA12044,NA19114,NA19147,NA19190,NA19240 esv1410721 22 16739587 16739902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938109 S 2 0 1 MICAL3 HuRef esv1048298 22 16740000 16740135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218709 S 2 0 1 MICAL3 HuRef nsv3556 22 16777268 16810494 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5914 S 9 1 0 MICAL3 NA19129 esv275264 22 16778207 16784643 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585520 S 1250 0 1 MICAL3 nsv191257 22 16846177 16846230 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209835 M 24 MICAL3 nsv834121 22 16853741 16939560 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455685 S 95 1 0 FLJ41941,MICAL3 nsv914159 22 16855941 17008715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598265 S 6533 1 0 FLJ41941,MICAL3,PEX26,TUBA8 IS40825 esv29318 22 16871523 16873123 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10797 S 451 0 1 MICAL3 NA19240 nsv914160 22 16875470 16925634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547087 S 6533 0 1 FLJ41941,MICAL3 MS17208 esv1732390 22 16904337 16904386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647212 S 2 0 1 "" HuRef nsv524564 22 16929740 16942888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700518 S 2026 0 1 PEX26 dgv1380e1 22 16931795 17441713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv827,essv22931,essv21270,essv1899,essv47,essv4146,essv22460,essv7619,essv1354,essv6702,essv11262,essv7126,essv8352,essv21846,essv13679,essv557,essv9032,essv24590,essv24865,essv485,essv4570,essv4433,essv5346,essv13650,essv10253,esv598,essv6181,essv4085,essv20856,essv15788,essv23050,essv17338,essv19946,essv21039,essv10300,essv9148,essv20178,essv24996,essv15151,essv6879,essv5566,essv19526,essv10830,essv16269,essv15649,essv17804,essv22334,essv17517,essv22375,essv12254,essv2201,essv8645,essv10592,essv317 M 271 0 0 DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PEX26,PRODH,TUBA8,USP18 NA06985,NA06991,NA07000,NA07357,NA10831,NA10839,NA10855,NA11829,NA11832,NA11839,NA11992,NA12761,NA12762,NA12812,NA12813,NA12864,NA12875,NA18506,NA18524,NA18529,NA18532,NA18537,NA18545,NA18555,NA18563,NA18573,NA18605,NA18608,NA18635,NA18856,NA18858,NA18860,NA18871,NA18912,NA18952,NA18960,NA18971,NA18973,NA18976,NA18991,NA18998,NA19007,NA19101,NA19119,NA19127,NA19129,NA19131,NA19132,NA19152,NA19161,NA19204,NA19239,NA19240 esv259799 22 16934560 16935207 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399914,essv2395036 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18519 nsv469560 22 16938777 17076737 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649672 M 265 36 0 Samples from several populations that are part of the HapMap project. PEX26,TUBA8,USP18 nsv471594 22 16938778 17249642 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550948,nssv549277,nssv549259,nssv549263,nssv550959,nssv550962,nssv550960,nssv550954,nssv549254,nssv550942,nssv549266,nssv550947,nssv550952,nssv550953,nssv550970,nssv550946,nssv550945,nssv550972,nssv550956,nssv549253,nssv549276,nssv549257,nssv549281,nssv550966,nssv550949,nssv550968,nssv550965,nssv550967,nssv549279,nssv549262,nssv549284,nssv549265,nssv549283,nssv550957,nssv550963,nssv550973,nssv550964,nssv550944,nssv549280,nssv550943,nssv549261,nssv550955,nssv550941,nssv550971,nssv549275,nssv550950,nssv549258,nssv549271,nssv549272,nssv549260,nssv549256,nssv549267,nssv549273,nssv550951,nssv550958,nssv549269,nssv549274,nssv550969,nssv550961,nssv549278,nssv549270,nssv549252,nssv549255,nssv549268,nssv549282,nssv549264 M 48 3 35 GGT3P,PEX26,TUBA8,USP18 JK776,NA10469,NA10471,NA10473,NA10492,NA10493,NA10494,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11523,NA15724,NA15725,NA15726,NA15727,NA15728,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059,P86GA nsv9872 22 16956769 16958411 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25402 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 esv2435750 22 16968171 16968953 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333787 S 1 1 0 "" NA18507 esv1266689 22 16969011 16969345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036530 S 2 0 1 "" HuRef esv2039690 22 16969415 16969926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527174 S 1 0 1 "" NA18507 esv1097962 22 16969590 16969778 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117557 S 2 0 1 "" HuRef nsv914161 22 16970899 17031860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544113 S 6533 1 0 TUBA8,USP18 MS16259 nsv914162 22 16989046 17031860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599477 S 6533 0 1 TUBA8,USP18 IS41634 nsv9873 22 16998751 17007173 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28068,nssv27786 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18860 esv29665 22 16998896 17009529 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17734,esv19482 M 451 4 2 "" NA06985,NA12044,NA12749,NA18517,NA18907 nsv442502 22 17006129 17009149 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421798 22 17006129 17010060 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158256,essv5120414,essv5041108,essv5117260,essv5090041,essv5097315,essv5006579,essv5013470,essv5043250,essv5105951,essv5154519,essv5110417,essv5078473,essv5157733,essv5040048,essv5015829,essv5082172,essv5147721,essv5066240,essv5123826,essv5029548,essv5054625,essv5137112,essv5125346,essv5004375,essv5125151,essv5022968,essv5021661,essv5097474,essv5109989,essv5064706,essv5070544,essv5034641,essv5090485,essv5132493,essv5113886,essv5106020,essv5125541,essv5048933 M 1184 0 39 "" NA06986,NA10830,NA10861,NA11994,NA12044,NA12057,NA12154,NA12275,NA12386,NA12400,NA12739,NA12749,NA12752,NA12760,NA12812,NA12827,NA12832,NA12843,NA12890,NA19118,NA19174,NA19718,NA20334,NA20335,NA20336,NA20586,NA20589,NA20755,NA20797,NA20805,NA20846,NA20876,NA20877,NA20884,NA20890,NA21094,NA21105,NA21117,NA21118 nsv516997 22 17006637 17406613 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685050,nssv687698,nssv679877,nssv660150,nssv653574,nssv685982,nssv659074,nssv656897,nssv668635,nssv682769,nssv656307,nssv691065,nssv687843,nssv676200,nssv665247,nssv684622,nssv662698,nssv657024,nssv689219,nssv672377,nssv656059,nssv674460,nssv672847,nssv685965,nssv678378,nssv691944,nssv687480,nssv670483,nssv671779,nssv652721,nssv662383,nssv683418,nssv690970,nssv676471,nssv684069,nssv662848,nssv689628,nssv660628,nssv683749,nssv667217,nssv678244,nssv667979,nssv689858,nssv673591,nssv687850,nssv689147,nssv693602,nssv683691,nssv666479,nssv657080,nssv702643,nssv675005,nssv656613,nssv652773 M 2026 33 21 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH,USP18 nsv514960 22 17006870 17008104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628367 S 1414 0 1 "" esv2751935 22 17012376 17410336 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985085,essv6985084,essv6990073 M 771 0 1 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH,USP18 BEC_94 dgv173e55 22 17020300 17437790 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751936,esv34520,esv2751937 M 771 3 0 DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH,USP18 BEC_103,NA11829,SPC_31 esv32687 22 17021676 17390478 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94433,essv95325,essv96168 M 51 2 1 DGCR10,DGCR5,DGCR6,DGCR9,GGT3P,PRODH,USP18 21808,21872,22007 dgv4820n71 22 17022145 17257787 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914166,nsv914163,nsv914170,nsv914169,nsv914165,nsv914167,nsv914173 M 6533 11 0 GGT3P,USP18 IS34185,IS38515,IS38612,IS39243,MS13490,MS15571,MS15600,MS17438,MS19397,MS21309,MS25377 nsv471339 22 17023447 17270535 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548013,nssv548012,nssv548010 M 3 GGT3P,USP18 nsv914164 22 17031860 17202486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551116 S 6533 1 0 GGT3P,USP18 MS18784 esv22247 22 17036938 17305455 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16273,esv19648,esv16355,esv19647,esv20021,esv21074,esv19369,esv16603,esv20527,esv20957,esv21240,esv12036,esv13678,esv10722 M 451 23 36 DGCR6,GGT3P,PRODH,USP18 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514961 22 17038218 17061216 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627204 S 1414 0 0 USP18 dgv4821n71 22 17051550 17405381 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914172,nsv914171,nsv914168,nsv914174 M 6533 4 0 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH MS20196,MS23648,MS26110,SP55500 nsv469578 22 17059973 17275750 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649691 M 265 7 0 Samples from several populations that are part of the HapMap project. DGCR6,GGT3P nsv510510 22 17063776 17069776 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622323 S 4 0 1 "" NA10860 nsv509807 22 17094929 17094929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619868 S 4 1 0 "" NA10860 nsv469851 22 17108335 17249642 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649872 M 265 68 0 Samples from several populations that are part of the HapMap project. GGT3P dgv4822n71 22 17118296 17405381 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914176,nsv914178,nsv914177,nsv914185,nsv914181,nsv914184,nsv914182,nsv914175,nsv914183 M 6533 19 0 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,GGT3P,PRODH IS30325,IS34573,IS34954,IS39832,IS40552,IS40831,MS10764,MS11307,MS16259,MS16643,MS17723,MS24003,SP50622,SP51244,SP52353,SP52359,SP54846,SP55093,SP57078 esv2422290 22 17119632 17268458 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161385 S 181 0 1 GGT3P ND01493 nsv509808 22 17120692 17120692 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623843 S 4 1 0 "" NA18994 dgv19e196 22 17142849 17234973 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422353,esv2422307 M 181 2 0 GGT3P ND00714,ND01938 nsv821058 22 17143268 17230978 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420149 S 1 1 0 GGT3P NA10851 dgv4823n71 22 17162871 17346859 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914179,nsv914180 M 6533 2 0 DGCR5,DGCR6,PRODH SP57163,SP81481 dgv74n16 22 17183053 17187577 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436748,nsv436747 M 2 1 0 "" NA18505 nsv442503 22 17190110 17386124 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DGCR5,DGCR6,DGCR9,PRODH nsv914186 22 17202486 17296756 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523931 S 6533 1 0 DGCR6,PRODH SP54285 dgv4824n71 22 17202486 17405381 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914188,nsv914189,nsv914187,nsv914190 M 6533 7 0 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,PRODH IS39450,MS15402,MS18101,MS20146,MS23798,SP51342,SP81135 essv17726 22 17213120 17311676 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DGCR6,PRODH NA12872 dgv1381e1 22 17213120 17372210 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24700,essv24262,essv20076 M 271 0 0 DGCR5,DGCR6,PRODH NA07048,NA10856,NA11829 dgv1382e1 22 17213120 17441713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18455,essv7281,essv3806,essv23617 M 271 0 0 DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,PRODH NA11831,NA12006,NA18592,NA18943 nsv914191 22 17226330 17280669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514014 S 6533 1 0 DGCR6,PRODH SP55882 dgv4825n71 22 17226330 17378394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914200,nsv914210,nsv914202,nsv914194,nsv914201,nsv914220,nsv914196,nsv914217,nsv914219,nsv914192,nsv914198,nsv914203,nsv914218 M 6533 15 0 DGCR5,DGCR6,PRODH IS30633,IS31302,IS33592,IS36975,IS37194,IS39000,MS15545,MS16381,MS17399,MS18414,MS25946,SP52914,SP57489,SP81090,SP81408 dgv4826n71 22 17226330 17396663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914193,nsv914211,nsv914204 M 6533 0 3 DGCR10,DGCR5,DGCR6,DGCR9,PRODH IS34473,SP53821,SP57243 nsv914195 22 17242612 17302635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573501 S 6533 0 1 DGCR6,PRODH IS33419 dgv4827n71 22 17242612 17355587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914199,nsv914215,nsv914216,nsv914197 M 6533 0 6 DGCR5,DGCR6,PRODH IS30197,MS10311,MS13095,MS13727,MS16153,MS17208 dgv4828n71 22 17242612 17405381 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914225,nsv914213,nsv914223,nsv914207,nsv914228,nsv914224,nsv914229,nsv914230,nsv914232,nsv914212,nsv914205 M 6533 16 0 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,PRODH IS30455,IS33590,IS40966,IS41192,IS41224,IS41966,MS11669,MS18117,MS21517,SP50110,SP50562,SP51457,SP54355,SP56079,SP56223,SP56350 dgv4829n71 22 17242612 17405381 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914214,nsv914206,nsv914222,nsv914221,nsv914208 M 6533 84 28 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,PRODH IS30138,IS30191,IS30222,IS30317,IS30653,IS30967,IS31323,IS31487,IS32703,IS32805,IS32822,IS33475,IS33763,IS33796,IS33864,IS34218,IS34393,IS34472,IS35548,IS35561,IS36735,IS37103,IS37270,IS37435,IS37702,IS37753,IS38047,IS38050,IS38304,IS38308,IS38431,IS38438,IS38455,IS38504,IS38520,IS38535,IS38538,IS38542,IS38585,IS39354,IS39426,IS39680,IS39966,IS40373,IS40947,IS41009,IS41810,IS41818,IS41857,IS41933,MS10282,MS10375,MS10510,MS10818,MS11505,MS12103,MS12648,MS13567,MS14714,MS15771,MS17113,MS17529,MS17915,MS17958,MS18175,MS18201,MS18205,MS18788,MS20785,MS21088,MS21866,MS22008,MS22093,MS22499,MS23174,MS23412,MS23541,MS24329,MS25163,MS26030,SP50116,SP50144,SP51260,SP52318,SP52562,SP53516,SP54424,SP54516,SP54551,SP54575,SP54802,SP55355,SP55509,SP55662,SP55698,SP55847,SP55971,SP55996,SP56116,SP56234,SP56301,SP57160,SP57690,SP58316,SP58343,SP58408,SP80925,SP81030,SP81107,SP81228,SP81385,SP81459 nsv914209 22 17248170 17297748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509699 S 6533 1 0 DGCR6,PRODH SP54937 esv8660 22 17256896 17258567 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31101 S 1 0 1 "" SJK esv7902 22 17256896 17262029 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30343 S 1 0 1 "" SJK nsv459336 22 17257787 17347371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536102 S 1557 0 1 DGCR5,DGCR6,PRODH 1780862355_A dgv541n27 22 17257787 17362097 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459338,nsv459337 M 1557 2 0 DGCR5,DGCR6,PRODH 1782681093_A,HGDP00632 dgv542n27 22 17257787 17388108 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459395,nsv459386,nsv459358,nsv459394 M 1557 0 4 DGCR5,DGCR6,DGCR9,PRODH 1780862125_A,1780862573_A,HGDP01418,NINDS_242 nsv471179 22 17257787 17388108 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545474,nssv545482,nssv545480,nssv545483,nssv545478,nssv545479,nssv545481 M 443 7 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DGCR5,DGCR6,DGCR9,PRODH HGDP00351,HGDP00557,HGDP00582,HGDP00607,HGDP00632,HGDP00879,HGDP01050 nsv471180 22 17257787 17388108 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545486,nssv545485,nssv545484 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DGCR5,DGCR6,DGCR9,PRODH HGDP00661,HGDP01412,HGDP01418 dgv543n27 22 17257787 17413532 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459391,nsv459379,nsv459370,nsv459357,nsv459376,nsv459383,nsv459393,nsv459364,nsv459356,nsv459367,nsv459378,nsv459377,nsv459373,nsv459360,nsv459387,nsv459361,nsv459362,nsv459369,nsv459381,nsv459365,nsv459390,nsv459375,nsv459388,nsv459389,nsv459384,nsv459380,nsv459359,nsv459371,nsv459372,nsv459382,nsv459366,nsv459368 M 1557 32 0 DGCR10,DGCR2,DGCR5,DGCR6,DGCR9,PRODH 1780846004_A,1780854196_A,1780854255_A,1780854327_A,1780854430_A,1780862002_A,1780862021_A,1780862195_A,1780862224_A,1780862274_A,1798860010_A,1798860251_A,HGDP00021,HGDP00025,HGDP00136,HGDP00228,HGDP00351,HGDP00524,HGDP00557,HGDP00582,HGDP00737,HGDP01050,HGDP01268,HGDP01310,HGDP01379,HGDP01399,NINDS_197,NINDS_54,NINDS_56,NINDS_57,NINDS_58,NINDS_98 esv7660 22 17258595 17262035 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30101 S 1 0 1 "" SJK esv9414 22 17258650 17260656 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31855 S 1 0 1 "" SJK esv5782 22 17259866 17259985 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28223 S 1 1 0 "" SJK nsv435744 22 17262077 18982653 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465760 S 2 0 1 ARVCF,C22orf25,C22orf29,C22orf39,CDC45,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR6,DGCR6L,DGCR8,DGCR9,GNB1L,GP1BB,GSC2,HIRA,LOC150185,LOC150197,LOC284865,LOC388849,LOC729444,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,MRPL40,PI4KAP1,PRODH,RANBP1,RIMBP3,RTN4R,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TMEM191B,TRMT2A,TSSK2,TXNRD2,UFD1L,ZDHHC8 NA15510 esv8963 22 17267535 17268506 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31404 S 1 0 1 "" SJK nsv914226 22 17270615 17302635 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597373 S 6533 0 1 DGCR6,PRODH IS40799 nsv914227 22 17270615 17343340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600550,nssv1585626 M 6533 0 2 DGCR5,DGCR6,PRODH IS37577,IS41894 dgv174e55 22 17270946 17417535 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34431,esv34826,esv2751938,esv2751939 M 771 4 0 DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,PRODH BEC_41,BEC_584,NA10856,NA12006 dgv1383e1 22 17270967 17416739 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25121,essv23300 M 271 0 0 DGCR10,DGCR11,DGCR2,DGCR5,DGCR6,DGCR9,PRODH NA10856,NA12006 nsv914231 22 17276464 17296756 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500761 S 6533 1 0 DGCR6,PRODH SP51007 dgv4830n71 22 17277228 17403754 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914237,nsv914252,nsv914243,nsv914249,nsv914251,nsv914248,nsv914241,nsv914233,nsv914240,nsv914236,nsv914250 M 6533 17 0 DGCR10,DGCR5,DGCR6,DGCR9,PRODH IS32806,IS32944,IS33959,IS40072,MS12577,MS17536,MS17618,MS21236,MS22343,SP50691,SP51007,SP51483,SP54225,SP54285,SP55494,SP56348,SP81074 dgv4831n71 22 17281004 17370128 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914239,nsv914235,nsv914238,nsv914254,nsv914234 M 6533 5 0 DGCR5,PRODH IS39254,IS40762,SP51241,SP54937,SP55795 dgv4832n71 22 17296180 17361563 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914253,nsv914242,nsv914247 M 6533 0 3 DGCR5,PRODH IS34235,IS39233,MS12262 nsv914244 22 17296180 17426677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574018 S 6533 0 1 DGCR10,DGCR11,DGCR2,DGCR5,DGCR9,PRODH IS33504 dgv4833n71 22 17297748 17346859 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914246,nsv914245 M 6533 0 2 DGCR5,PRODH IS33248,SP54988 esv23076 22 17315547 17403064 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13266,esv12731,esv20266,esv13588,esv18773,esv14640 M 451 4 29 DGCR10,DGCR5,DGCR9 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18861,NA18909,NA18916,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 dgv4834n71 22 17318367 17374719 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914256,nsv914255 M 6533 2 0 DGCR5 IS35492,SP57925 nsv914257 22 17321457 17361563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586120 S 6533 0 1 DGCR5 IS37646 nsv914258 22 17321457 17396663 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554264 S 6533 1 0 DGCR10,DGCR5,DGCR9 MS20698 nsv914259 22 17334629 17396663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573502 S 6533 0 1 DGCR10,DGCR5,DGCR9 IS33419 dgv4835n71 22 17337129 17378394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914261,nsv914260 M 6533 2 0 DGCR5 IS33747,IS33776 dgv4836n71 22 17337129 17405381 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914262,nsv914265,nsv914264 M 6533 3 0 DGCR10,DGCR2,DGCR5,DGCR9 IS31063,IS40227,SP80982 nsv914263 22 17345628 18347543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568713 S 6533 1 0 ARVCF,C22orf29,C22orf39,CDC45,CLDN5,CLTCL1,COMT,DGCR10,DGCR11,DGCR14,DGCR2,DGCR5,DGCR9,GNB1L,GP1BB,GSC2,HIRA,LOC150185,MIR4761,MRPL40,SEPT5,SEPT5-GP1BB,SLC25A1,TBX1,TSSK2,TXNRD2,UFD1L IS31330 esv2081719 22 17357394 17357819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590951 S 1 0 1 DGCR5 NA18507 esv1669610 22 17357576 17357641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209232 S 2 0 1 DGCR5 HuRef dgv4837n71 22 17362097 17396663 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914266,nsv914267 M 6533 4 0 DGCR10,DGCR5,DGCR9 IS31768,IS33592,SP52914,SP81481 dgv1384e1 22 17368797 17412524 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8852,essv18192,essv650,essv17904,essv2649,essv2782,essv166,essv22067,essv7387,essv14639,essv15843,essv5934,essv15404,essv8772,essv16936,essv4915,essv2604,essv1725,essv23335,essv1623,essv22202,essv6223,essv24048,essv19261,essv22526,essv4670,essv17437,essv5743,essv1427,essv2523,essv22756,essv770,essv23390 M 271 0 0 DGCR10,DGCR2,DGCR9 NA07019,NA10838,NA10854,NA10859,NA11882,NA12003,NA12043,NA12044,NA12057,NA12154,NA12750,NA18508,NA18550,NA18561,NA18593,NA18622,NA18623,NA18636,NA18942,NA18944,NA18956,NA18967,NA18968,NA18975,NA18987,NA18990,NA18997,NA19003,NA19092,NA19093,NA19144,NA19203,NA19223 dgv1385e1 22 17368797 17441713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16911,essv3382,essv24913,essv15234,essv11688,essv4184,essv23916,essv21176,essv18355,essv3276,essv12701,essv2307,essv218,essv2001,essv3475 M 271 0 0 DGCR10,DGCR11,DGCR2,DGCR9 NA06994,NA11830,NA11994,NA12814,NA18526,NA18914,NA18940,NA18945,NA18948,NA18949,NA18972,NA18992,NA19094,NA19154,NA19205 dgv1386e1 22 17396841 17441713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21071,essv24653,essv22475,essv23003,essv22812,essv17493 M 271 0 0 DGCR11,DGCR2 NA06991,NA11829,NA12004,NA12761,NA12762,NA12812 nsv914268 22 17426677 17603352 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586217 S 6533 1 0 CLTCL1,DGCR14,DGCR2,GSC2,SLC25A1,TSSK2 IS37689 nsv828932 22 17429835 17430307 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427205 S 31 0 1 DGCR2 AK6 nsv834122 22 17466004 17647712 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455686 S 95 0 1 CLTCL1,DGCR14,DGCR2,GSC2,SLC25A1,TSSK2 esv2139371 22 17503627 17503956 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4714107 S 1 0 1 DGCR14 NA18507 nsv191518 22 17503753 17503831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210096 M 24 DGCR14 esv1435213 22 17503832 17503911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720923 S 2 0 1 DGCR14 HuRef nsv191354 22 17503833 17503911 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209932 M 24 DGCR14 esv259902 22 17527967 17528242 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394614,essv2397912,essv2398195,essv2397138,essv2395166 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18870,NA18907,NA18909,NA18951,NA19108 nsv914269 22 17532094 17550604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506141 S 6533 0 1 CLTCL1,SLC25A1 SP54043 nsv817936 22 17535622 17538116 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417312 S 112 0 1 "" NA18608 dgv4838n71 22 17540307 17550956 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914270,nsv914271 M 6533 0 2 CLTCL1,SLC25A1 SP54956,SP54988 esv1007063 22 17550750 17554155 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564652 S 3 0 1 CLTCL1 HuRef nsv459398 22 17563787 17607275 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536145 S 1557 0 1 CLTCL1 1780854489_A esv2532331 22 17569635 17570230 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311520 S 1 1 0 CLTCL1 NA18507 nsv834123 22 17569684 17738313 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455687 S 95 0 1 CLTCL1,HIRA nsv513584 22 17569869 17569918 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626836 S 1 1 0 CLTCL1 1 esv273055 22 17590851 17596962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579076 S 7 1 0 Samples from several populations that are part of the HapMap project. CLTCL1 NA19239 esv272049 22 17590860 17596933 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503205,essv2511410,essv2504422,essv2505074,essv2508035,essv2502847,essv2504493,essv2511702,essv2493116,essv2499568 M 157 10 0 Samples from several populations that are part of the HapMap project. CLTCL1 NA07357,NA11881,NA11920,NA11993,NA11995,NA12045,NA12892,NA18563,NA18940,NA18951 nsv834124 22 17630839 17818820 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455688 S 95 0 1 C22orf39,CLTCL1,HIRA,MRPL40,UFD1L nsv914272 22 17635856 17665816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507257,nssv1501255,nssv1517894 M 6533 0 3 CLTCL1 SP51016,SP54510,SP57401 nsv828933 22 17638245 17663116 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423902 S 31 0 1 CLTCL1 NA18999 esv272289 22 17655147 17655417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581530 S 7 1 0 Samples from several populations that are part of the HapMap project. CLTCL1 NA12878 nsv834125 22 17656248 17777126 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455689 S 95 0 1 CLTCL1,HIRA nsv191368 22 17659348 17659348 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209946 M 24 "" nsv3557 22 17709021 17741469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1629 S 9 1 0 HIRA NA19240 esv268055 22 17741433 17741591 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518819,essv2515491,essv2515041,essv2516369,essv2513652 M 157 5 0 Samples from several populations that are part of the HapMap project. HIRA NA07347,NA12045,NA12249,NA12812,NA12814 esv1126765 22 17741460 17741460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161263 S 2 1 0 HIRA HuRef nsv834127 22 17782087 18023980 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455690 S 95 0 1 C22orf39,CDC45,CLDN5,HIRA,LOC150185,MRPL40,UFD1L dgv4839n71 22 17796053 17824915 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914274,nsv914273 M 6533 0 2 C22orf39,HIRA,MRPL40,UFD1L SP54956,SP55021 esv28972 22 17797929 17799265 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13268 S 451 1 0 HIRA NA12044 dgv4840n71 22 17803250 17893930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914276,nsv914277,nsv914275 M 6533 0 6 C22orf39,CDC45,CLDN5,MRPL40,UFD1L IS35701,IS37467,MS14485,MS19808,MS21814,MS22421 esv2751940 22 17803250 18146782 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986111,essv6986110,essv6982227,essv6982226,essv6982225 M 771 1 0 C22orf39,CDC45,CLDN5,GP1BB,LOC150185,MRPL40,SEPT5,SEPT5-GP1BB,TBX1,UFD1L BEC_404 nsv3558 22 17835591 17876750 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1630,nssv4569 M 9 2 0 CDC45,UFD1L NA12878,NA19240 esv2097408 22 17918549 17919001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539963 S 1 0 1 "" NA18507 esv1356830 22 17918808 17918888 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086244 S 2 0 1 "" HuRef nsv511641 22 17947776 17954758 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626275 S 1 0 1 "" 1 esv2625833 22 17951155 17953595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378091 S 1 0 1 "" NA18507 nsv512646 22 17951259 17953878 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625262 S 1 0 1 "" 1 nsv191230 22 17951619 17953101 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209808 M 24 "" esv29887 22 17951645 17953028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16488 S 451 0 6 "" NA11995,NA12006,NA18508,NA19114,NA19147,NA19240 nsv914278 22 17965836 18012608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531043 S 6533 0 1 "" MS10311 nsv834128 22 18002150 18171498 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455691 S 95 0 1 GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1 nsv516187 22 18016351 18018044 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663625,nssv668455,nssv674853,nssv674608,nssv666676,nssv654674 M 2026 3 3 "" nsv528700 22 18016351 18023245 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705346 S 2026 1 0 "" nsv914279 22 18018044 18334458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547089 S 6533 0 1 C22orf29,COMT,GNB1L,GP1BB,MIR4761,SEPT5,SEPT5-GP1BB,TBX1,TXNRD2 MS17208 nsv914280 22 18023844 18145182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586121 S 6533 0 1 GP1BB,SEPT5,SEPT5-GP1BB,TBX1 IS37646 dgv724n67 22 18024715 18027058 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828934,nsv828937,nsv828935,nsv828936 M 31 6 0 "" AK10,AK14,AK2,AK4,AK6,AK8 dgv4841n71 22 18055944 18194714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914281,nsv914287 M 6533 0 2 GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1 IS33504,IS39233 nsv828938 22 18058592 18691988 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431140 S 31 1 0 ARVCF,C22orf25,C22orf29,COMT,DGCR6L,DGCR8,GNB1L,GP1BB,LOC150197,LOC284865,LOC388849,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,RANBP1,RTN4R,SEPT5,SEPT5-GP1BB,TBX1,TRMT2A,TXNRD2,ZDHHC8 NA18968 nsv828939 22 18063555 18691988 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432596 S 31 0 1 ARVCF,C22orf25,C22orf29,COMT,DGCR6L,DGCR8,GNB1L,GP1BB,LOC150197,LOC284865,LOC388849,MIR1286,MIR1306,MIR185,MIR3618,MIR4761,RANBP1,RTN4R,SEPT5,SEPT5-GP1BB,TBX1,TRMT2A,TXNRD2,ZDHHC8 AK20 esv2009458 22 18064189 18064633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797063 S 1 0 1 "" NA18507 nsv191583 22 18064532 18064591 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210161 M 24 "" dgv4842n71 22 18071502 18093604 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914285,nsv914284,nsv914282,nsv914286 M 6533 0 4 GP1BB,SEPT5,SEPT5-GP1BB SP54593,SP54967,SP54988,SP55021 nsv914283 22 18071502 18106999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510435 S 6533 0 1 GP1BB,SEPT5,SEPT5-GP1BB SP54956 nsv517478 22 18071502 18185263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698711,nssv696576,nssv673715,nssv684260,nssv695810,nssv684533,nssv699358,nssv690216,nssv692689,nssv673089,nssv672055,nssv693437,nssv673347,nssv687109,nssv678099,nssv676520,nssv692429,nssv652139,nssv673090 M 2026 0 19 GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1 nsv834129 22 18073140 18286591 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455692,nssv1455693 M 95 0 2 C22orf29,GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1,TXNRD2 nsv914288 22 18078129 18294854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531044 S 6533 0 1 C22orf29,GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1,TXNRD2 MS10311 dgv725n67 22 18079493 18164949 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828940,nsv828945,nsv828944,nsv828941 M 31 4 0 GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1 AK14,NA18542,NA18949,NA18969 nsv828943 22 18088273 18165073 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435610 S 31 0 1 GNB1L,GP1BB,SEPT5,SEPT5-GP1BB,TBX1 NA18942 esv22571 22 18091499 18095954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16474 S 451 0 3 GP1BB,SEPT5-GP1BB NA11993,NA18858,NA19129 nsv471181 22 18097320 18182779 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545491,nssv545490,nssv545487,nssv545489 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNB1L,TBX1 HGDP00543,HGDP00550,HGDP00789,HGDP00825 dgv4843n71 22 18097320 18194714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914289,nsv914290,nsv914291 M 6533 0 3 GNB1L,TBX1 IS34005,IS37172,MS18276 dgv4844n71 22 18110592 18261556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914293,nsv914292 M 6533 0 2 C22orf29,GNB1L,TBX1,TXNRD2 MS10123,MS16153 nsv828946 22 18121202 18135688 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428773 S 31 1 0 TBX1 AK10 esv21705 22 18128054 18128970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17093 S 451 0 1 TBX1 NA12489 nsv828947 22 18128994 18132621 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434127 S 31 1 0 TBX1 NA18526 nsv828948 22 18146631 18147215 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437141 S 31 0 1 TBX1 NA18592 dgv4845n71 22 18146782 18194714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914297,nsv914294,nsv914295 M 6533 0 6 GNB1L,TBX1 IS30197,IS34908,IS38403,IS40799,MS11237,MS11306 nsv914296 22 18146782 18301003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537181 S 6533 0 1 C22orf29,GNB1L,TBX1,TXNRD2 MS13095 nsv438325 22 18152179 18175586 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470814,nssv470812,nssv470811,nssv470813,nssv470810 M 269 0 5 Samples from several populations that are part of the HapMap project. GNB1L NA18942,NA18973,NA18992,NA18994,NA19007 dgv4846n71 22 18165006 18269423 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914300,nsv914299,nsv914298 M 6533 0 3 C22orf29,GNB1L,TXNRD2 IS33684,IS35484,IS37646 nsv834130 22 18205446 18308090 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455695,nssv1455694 M 95 0 2 C22orf29,GNB1L,TXNRD2 nsv828949 22 18216682 18217261 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422697 S 31 1 0 C22orf29,GNB1L NA18969 dgv4847n71 22 18220413 18274542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914305,nsv914301,nsv914302,nsv914303 M 6533 0 4 C22orf29,GNB1L,TXNRD2 IS33601,IS39233,MS10769,MS18276 nsv914304 22 18229501 18288219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538769 S 6533 0 1 TXNRD2 MS13770 nsv515664 22 18240875 18259637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659224,nssv665904,nssv670616,nssv664289,nssv690269 M 2026 0 5 TXNRD2 nsv469641 22 18259185 18435258 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649568 M 265 0 31 Samples from several populations that are part of the HapMap project. ARVCF,C22orf25,COMT,MIR185,MIR4761,TXNRD2 dgv72n68 22 18259186 18449970 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv834131,nsv834132 M 95 0 8 ARVCF,C22orf25,COMT,DGCR8,MIR185,MIR4761,TXNRD2 nsv3559 22 18267566 18296041 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9868 S 9 1 0 TXNRD2 NA18507 esv1088050 22 18274856 18275170 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903141 S 2 0 1 TXNRD2 HuRef nsv914306 22 18280075 18363014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533829 S 6533 0 1 ARVCF,COMT,MIR4761,TXNRD2 MS11306 nsv513585 22 18286593 18287586 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626837 S 1 1 0 TXNRD2 1 esv991750 22 18287251 18287251 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567937 S 3 1 0 TXNRD2 HuRef esv1459761 22 18287302 18287302 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012370 S 2 1 0 TXNRD2 HuRef nsv914307 22 18304021 18332132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588292 S 6533 0 1 COMT,MIR4761,TXNRD2 IS38176 dgv4848n71 22 18304021 18370789 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914313,nsv914316,nsv914315,nsv914314,nsv914308 M 6533 0 6 ARVCF,COMT,MIR4761,TXNRD2 IS32737,IS34005,IS37985,IS38262,IS38403,MS16153 dgv4849n71 22 18314051 18350502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914312,nsv914309 M 6533 0 4 ARVCF,COMT,MIR4761 IS34235,IS34304,IS35007,MS13095 dgv4850n71 22 18314051 18412327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914317,nsv914311,nsv914310 M 6533 0 3 ARVCF,C22orf25,COMT,MIR185,MIR4761 IS33162,IS41243,MS10311 esv1007918 22 18327298 18327364 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573324 S 3 0 1 COMT HuRef esv1009031 22 18327322 18327388 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582250 S 3 0 1 COMT HuRef esv1291604 22 18327340 18327407 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344036 S 2 0 1 COMT HuRef dgv4851n71 22 18329013 18369642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914319,nsv914322,nsv914320,nsv914318 M 6533 0 6 ARVCF,COMT,MIR4761 IS32841,IS33630,IS37874,IS40230,MS11237,MS17208 nsv517165 22 18330428 18367202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657052,nssv673716,nssv663579,nssv653904,nssv677816,nssv655037 M 2026 0 6 ARVCF,COMT,MIR4761 dgv4852n71 22 18332561 18390730 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914321,nsv914323 M 6533 0 2 ARVCF,C22orf25,COMT IS39233,SP54956 dgv4853n71 22 18339473 18367202 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914326,nsv914325,nsv914324 M 6533 0 3 ARVCF IS38144,SP50159,SP54988 nsv914327 22 18342203 18598237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586123 S 6533 0 1 ARVCF,C22orf25,DGCR8,LOC150197,LOC284865,LOC388849,MIR1306,MIR185,MIR3618,RANBP1,TRMT2A,ZDHHC8 IS37646 esv24218 22 18361239 18363144 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17603 S 451 1 0 ARVCF NA12044 esv993624 22 18365257 18365800 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586953 S 3 0 1 ARVCF HuRef dgv4854n71 22 18367202 18409878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914329,nsv914328 M 6533 0 2 ARVCF,C22orf25,MIR185 IS33684,MS17208 nsv914330 22 18368167 18451737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571646 S 6533 1 0 ARVCF,C22orf25,DGCR8,MIR185 IS32763 nsv914331 22 18371067 18390730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511133 S 6533 0 1 ARVCF,C22orf25 SP54988 nsv3560 22 18372154 18406269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7731 S 9 1 0 ARVCF,C22orf25,MIR185 NA12156 nsv471183 22 18386040 18686993 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545506,nssv545505,nssv545494,nssv545497,nssv545502,nssv545501,nssv545493,nssv545503,nssv545498,nssv545496,nssv545500,nssv545492,nssv545504,nssv545495 M 443 0 12 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C22orf25,DGCR6L,DGCR8,LOC150197,LOC284865,LOC388849,MIR1286,MIR1306,MIR185,MIR3618,RANBP1,RTN4R,TRMT2A,ZDHHC8 HGDP00290,HGDP00298,HGDP00302,HGDP00315,HGDP00328,HGDP00543,HGDP00556,HGDP00612,HGDP00657,HGDP00661,HGDP00825,HGDP00978 nsv834133 22 18396886 18544231 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455705,nssv1455704 M 95 0 2 C22orf25,DGCR8,LOC388849,MIR1306,MIR185,MIR3618,RANBP1,TRMT2A,ZDHHC8 dgv1387e1 22 18406493 18689447 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13203,esv98,essv14124 M 271 0 0 C22orf25,DGCR6L,DGCR8,LOC150197,LOC284865,LOC388849,MIR1286,MIR1306,MIR3618,RANBP1,RTN4R,TRMT2A,ZDHHC8 NA18861,NA19102 nsv521042 22 18409878 18451737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680652,nssv685168,nssv688812 M 2026 0 3 C22orf25,DGCR8 nsv433325 22 18422075 18432782 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463206 S 9 0 1 Samples from several populations that are part of the HapMap project. C22orf25 NA18507 dgv726n67 22 18437967 18691988 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828951,nsv828950 M 31 2 0 DGCR6L,DGCR8,LOC150197,LOC284865,LOC388849,MIR1286,MIR1306,MIR3618,RANBP1,RTN4R,TRMT2A,ZDHHC8 AK14,NA18969 esv2581918 22 18442880 18443842 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288826 S 1 1 0 "" NA18507 dgv4855n71 22 18462961 18719310 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914337,nsv914332 M 6533 0 2 DGCR6L,DGCR8,LOC150197,LOC284865,LOC388849,LOC729444,MIR1286,RANBP1,RTN4R,TRMT2A,ZDHHC8 MS10311,MS17208 dgv4856n71 22 18467539 18541424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914333,nsv914339,nsv914334 M 6533 0 5 DGCR8,LOC388849,RANBP1,TRMT2A,ZDHHC8 IS32322,IS39233,IS39417,MS13095,MS18276 dgv4857n71 22 18467539 18558929 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914335,nsv914349,nsv914340,nsv914342,nsv914348,nsv914343,nsv914341 M 6533 0 7 DGCR8,LOC388849,RANBP1,TRMT2A,ZDHHC8 IS30369,IS33178,IS33455,IS38176,MS11306,MS16153,SP54956 dgv4858n71 22 18467539 18630552 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914358,nsv914357,nsv914350,nsv914336,nsv914356 M 6533 0 5 DGCR8,LOC150197,LOC284865,LOC388849,MIR1286,RANBP1,RTN4R,TRMT2A,ZDHHC8 IS33601,IS33684,IS36876,IS41410,MS10126 dgv4859n71 22 18473317 18519204 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914346,nsv914338 M 6533 0 2 DGCR8,LOC388849,RANBP1,TRMT2A,ZDHHC8 SP54043,SP54988 dgv4860n71 22 18473317 18666099 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914344,nsv914345,nsv914351 M 6533 0 3 DGCR8,LOC150197,LOC284865,LOC388849,MIR1286,RANBP1,RTN4R,TRMT2A,ZDHHC8 IS40799,MS10123,MS13770 nsv914347 22 18478882 18507554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511635 S 6533 0 1 DGCR8,RANBP1,TRMT2A,ZDHHC8 SP55021 esv2110469 22 18489186 18489609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672396 S 1 0 1 RANBP1 NA18507 dgv4861n71 22 18497345 18565119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914354,nsv914355,nsv914353,nsv914352 M 6533 0 7 LOC388849,ZDHHC8 IS30197,IS38262,IS38840,MS10386,MS11237,MS11726,MS13727 nsv834134 22 18506050 18625446 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455706,nssv1455707 M 95 0 2 LOC150197,LOC284865,LOC388849,MIR1286,RTN4R,ZDHHC8 esv992649 22 18528989 18533737 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565590 S 3 0 1 "" HuRef esv1592220 22 18529802 18530441 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671690 S 2 0 1 "" HuRef esv1185806 22 18530700 18530754 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976669 S 2 0 1 "" HuRef nsv459400 22 18544589 18569077 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536146 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC284865 HGDP00786 dgv4862n71 22 18545632 18693299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914359,nsv914365,nsv914366,nsv914361 M 6533 0 4 DGCR6L,LOC150197,LOC284865,MIR1286,RTN4R IS33504,IS39233,IS40230,MS18276 nsv914360 22 18545632 18719310 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568714 S 6533 1 0 DGCR6L,LOC150197,LOC284865,LOC729444,MIR1286,RTN4R IS31330 nsv914362 22 18569077 18605536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575768 S 6533 0 1 LOC150197,LOC284865 IS33797 dgv4863n71 22 18569077 18621160 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914363,nsv914368,nsv914367 M 6533 0 6 LOC150197,LOC284865,MIR1286,RTN4R IS31045,IS32322,IS32737,IS38144,IS41243,IS41634 dgv4864n71 22 18569077 18658004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914374,nsv914372,nsv914364,nsv914371,nsv914369,nsv914370,nsv914373 M 6533 0 13 LOC150197,LOC284865,MIR1286,RTN4R IS30197,IS32841,IS33162,IS34304,IS35007,IS35484,IS37577,IS38388,IS38403,MS11237,MS13727,MS16315,SP50159 nsv471184 22 18575591 18608542 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545507 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC150197 HGDP00454 dgv544n27 22 18576469 18608542 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459402,nsv459401 M 1557 0 2 "" HGDP00590,HGDP00602 nsv522212 22 18580513 18590055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694988 S 2026 0 1 "" nsv914375 22 18590055 18686993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543853 S 6533 0 1 DGCR6L,MIR1286,RTN4R MS16153 esv1375470 22 18592761 18592761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806963 S 2 1 0 "" HuRef esv1003446 22 18619962 18620712 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564273 S 3 0 1 RTN4R HuRef nsv519102 22 18666099 18686993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696577 S 2026 0 1 DGCR6L nsv191296 22 18677817 18678481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209874 M 24 "" dgv16n31 22 18685447 18884066 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471543,nsv471478 M 3 DGCR6L,LOC729444,PI4KAP1,RIMBP3,TMEM191B nsv518950 22 18686993 19295555 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696417 S 2026 1 0 DGCR6L,KLHL22,LOC729444,MED15,PI4KAP1,RIMBP3,SCARF2,TMEM191B,ZNF74 esv33990 22 18691733 18989576 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93772 S 51 0 1 LOC729444,PI4KAP1,RIMBP3,TMEM191B 21972 nsv820540 22 18692152 18889471 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420150 S 1 1 0 LOC729444,PI4KAP1,RIMBP3,TMEM191B NA10851 esv26930 22 18692511 18889471 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11036,esv16430,esv12701,esv18518,esv20547,esv9931,esv13822,esv13782,esv21221,esv12260,esv10280,esv11506,esv20893 M 451 14 38 LOC729444,PI4KAP1,RIMBP3,TMEM191B NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv4865n71 22 18693299 18941404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914379,nsv914376 M 6533 3 0 LOC729444,PI4KAP1,RIMBP3,TMEM191B MS13490,SP50059,SP50977 nsv914377 22 18693299 19066315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592734 S 6533 1 0 LOC729444,PI4KAP1,RIMBP3,TMEM191B IS39243 nsv510803 22 18703127 19032250 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622802,nssv620171,nssv619020 M 4 0 3 LOC729444,PI4KAP1,RIMBP3,TMEM191B NA10860,NA15510,NA18994 nsv914378 22 18710895 18842490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562164 S 6533 1 0 LOC729444,PI4KAP1,RIMBP3,TMEM191B MS25406 nsv510511 22 18712479 18718479 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622324 S 4 0 1 LOC729444 NA10860 dgv4866n71 22 18747632 19066315 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914380,nsv914383,nsv914382,nsv914385,nsv914388,nsv914386,nsv914384,nsv914387 M 6533 15 0 PI4KAP1,RIMBP3,TMEM191B IS32523,IS34185,IS37621,IS38670,IS40223,MS12482,MS12688,MS15630,MS23648,MS24995,MS25052,MS25789,SP50604,SP80994,SP81239 nsv511636 22 18748440 18784723 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626270 S 1 0 1 PI4KAP1,TMEM191B 1 nsv436867 22 18765549 19387835 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465761 S 2 1 0 Samples from several populations that are part of the HapMap project. KLHL22,MED15,PI4KAP1,POM121L4P,RIMBP3,SCARF2,TMEM191A,ZNF74 NA18505 esv2144483 22 18770827 18771895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780403 S 1 0 1 PI4KAP1 NA18507 nsv914381 22 18780866 19000412 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544030,nssv1537466,nssv1542920 M 6533 2 1 RIMBP3 MS13212,MS15942,MS16211 nsv511646 22 18807503 18815204 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626281 S 1 1 0 "" 1 nsv914389 22 18842490 19048116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577595,nssv1590499 M 6533 2 0 "" IS34491,IS38515 nsv436864 22 18855006 20243419 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465762 S 2 1 0 Samples from several populations that are part of the HapMap project. AIFM3,BCRP2,CRKL,FLJ39582,HIC2,KLHL22,LOC400891,LZTR1,MED15,MGC16703,P2RX6,P2RX6P,PI4KA,PI4KAP2,POM121L4P,POM121L8P,RIMBP3B,RIMBP3C,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,TMEM191A,TMEM191C,ZNF74 NA18505 esv22212 22 18939490 19056898 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18438,esv14164,esv11893,esv14859,esv10686,esv19934,esv17938,esv16329,esv21211,esv13819,esv16017,esv14683 M 451 11 33 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv828952 22 18971693 19106004 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422719 S 31 1 0 ZNF74 NA18969 nsv828954 22 18971693 19234711 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431151 S 31 1 0 KLHL22,MED15,SCARF2,ZNF74 NA18968 esv1062995 22 18986163 18986216 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038708 S 2 0 1 "" HuRef esv1720370 22 18986534 18987370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969782 S 2 0 1 "" HuRef esv1001471 22 18989469 19019084 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586345 S 3 0 1 "" HuRef nsv914390 22 19027466 19790008 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540222 S 6533 1 0 AIFM3,BCRP2,CRKL,FLJ39582,KLHL22,LOC400891,LZTR1,MED15,MGC16703,P2RX6,P2RX6P,PI4KA,POM121L4P,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,TMEM191A,ZNF74 MS14737 esv1611613 22 19043440 19043440 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605729 S 2 1 0 "" HuRef dgv4867n71 22 19048116 19147808 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914391,nsv914392 M 6533 2 0 KLHL22,SCARF2,ZNF74 IS36550,IS37730 nsv914393 22 19048116 19364788 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539841 S 6533 1 0 KLHL22,MED15,SCARF2,ZNF74 MS14518 nsv834135 22 19054378 19175563 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455708 S 95 1 0 KLHL22,SCARF2,ZNF74 nsv519901 22 19067903 19113721 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697115 S 2026 1 0 SCARF2,ZNF74 nsv834136 22 19068730 19221767 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455709 S 95 0 1 KLHL22,MED15,SCARF2,ZNF74 dgv4868n71 22 19071890 19136361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914394,nsv914396,nsv914398,nsv914397,nsv914399 M 6533 0 6 KLHL22,SCARF2,ZNF74 IS32322,IS32841,IS33178,IS39258,MS10311,MS19488 nsv509809 22 19073362 19162380 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619869 S 4 1 0 KLHL22,SCARF2,ZNF74 NA10860 nsv523162 22 19073536 19792353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698872 S 2026 0 1 AIFM3,BCRP2,CRKL,FLJ39582,KLHL22,LOC400891,LZTR1,MED15,MGC16703,P2RX6,P2RX6P,PI4KA,POM121L4P,SCARF2,SERPIND1,SLC7A4,SNAP29,THAP7,TMEM191A,ZNF74 nsv914395 22 19075201 19094595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510438 S 6533 0 1 ZNF74 SP54956 nsv834138 22 19089359 19281242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455711,nssv1455710,nssv1455712 M 95 0 3 KLHL22,MED15,SCARF2,ZNF74 nsv914400 22 19095989 19184161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547092 S 6533 0 1 KLHL22,SCARF2 MS17208 nsv914401 22 19102598 19125757 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506143 S 6533 0 1 SCARF2 SP54043 nsv828955 22 19104229 19123031 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434128 S 31 1 0 SCARF2 NA18526 nsv3561 22 19163432 19197819 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4570,nssv2356,nssv5918 M 9 3 0 KLHL22,MED15 NA12878,NA18555,NA19129 nsv509810 22 19174190 19201117 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619870,nssv621143,nssv623844 M 4 3 0 KLHL22,MED15 NA10860,NA15510,NA18994 esv1006835 22 19186802 19188091 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563512 S 3 1 0 "" HuRef esv2241866 22 19190256 19190955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826186 S 1 0 1 "" NA18507 nsv819580 22 19227260 19234566 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419821 S 2 1 0 MED15 AK1 nsv821342 22 19229011 19234543 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420151 S 1 0 1 MED15 NA10851 esv25802 22 19229829 19234533 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14761 S 451 39 0 MED15 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv828956 22 19229997 19233734 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438546 S 31 1 0 MED15 NA18951 nsv834139 22 19242000 19367825 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455713 S 95 0 1 MED15 nsv914402 22 19243757 19300175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547093 S 6533 0 1 MED15 MS17208 nsv914403 22 19258809 19351264 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568715 S 6533 1 0 MED15 IS31330 nsv3562 22 19264294 19298773 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1631,nssv5919 M 9 0 2 MED15 NA19129,NA19240 nsv914404 22 19268180 19316010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596142 S 6533 1 0 MED15 IS40415 nsv436356 22 19278078 19285479 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465763 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv498981 22 19280622 19283841 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585842 S 9 0 1 "" esv24672 22 19280735 19283705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20301 S 451 0 1 "" NA19129 dgv727n67 22 19283125 19283807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828957,nsv828958 M 31 0 4 "" AK8,NA18542,NA18582,NA18592 nsv914405 22 19284760 19316010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580272 S 6533 1 0 "" IS35253 dgv4869n71 22 19329190 19364788 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914407,nsv914406,nsv914408 M 6533 0 3 "" IS41927,MS16153,MS17208 esv32695 22 19333373 19333651 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96757,essv100992,essv98178,essv94445,essv97922,essv95727,essv94607,essv97082,essv99289 M 51 0 9 "" 21659,21693,21772,21808,21837,21841,21932,22075,22275 nsv914409 22 19337485 19358138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570877 S 6533 0 1 "" IS32322 nsv914410 22 19337485 19363371 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592864,nssv1569979,nssv1558772,nssv1568981,nssv1577335,nssv1529940,nssv1596824,nssv1575769,nssv1567341,nssv1566657 M 6533 1 9 "" IS30835,IS31067,IS31373,IS31758,IS33797,IS34407,IS39258,IS40646,MS10126,MS23531 nsv516445 22 19339596 19358946 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705347,nssv685733,nssv663026,nssv681257,nssv674096,nssv677057,nssv678148,nssv655940,nssv668456 M 2026 6 3 "" dgv4870n71 22 19339853 19369581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914413,nsv914411,nsv914412 M 6533 0 19 "" IS30539,IS31307,IS31576,IS31706,IS33504,IS33507,IS33832,IS36170,IS37999,IS38176,IS38216,IS39363,IS39716,IS40368,IS40819,IS41243,MS11669,MS12262,SP56223 nsv518753 22 19339853 19429297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696202 S 2026 0 1 PI4KA,POM121L4P,TMEM191A esv28242 22 19341648 19344016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13138 S 451 0 2 "" NA07045,NA19099 nsv914414 22 19345218 19358138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511135 S 6533 0 1 "" SP54988 dgv4871n71 22 19349125 19364788 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914415,nsv914416 M 6533 0 2 "" SP55021,SP57469 nsv828959 22 19351015 19362439 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422730 S 31 1 0 "" NA18969 esv33770 22 19351244 19351285 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98920 S 51 0 1 "" 21606 nsv914417 22 19357159 19418146 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592735 S 6533 1 0 PI4KA,POM121L4P,TMEM191A IS39243 nsv471533 22 19362637 19402748 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547930,nssv547931,nssv547929 M 3 PI4KA,POM121L4P,TMEM191A esv26322 22 19363919 19424484 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11935,esv10402,esv15324,esv18571,esv12898,esv18158 M 451 7 31 PI4KA,POM121L4P,TMEM191A NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19240 nsv914418 22 19420148 19663505 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511852 S 6533 1 0 AIFM3,CRKL,PI4KA,SERPIND1,SNAP29 SP55125 nsv834140 22 19426874 19635776 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455714 S 95 0 1 CRKL,PI4KA,SERPIND1,SNAP29 nsv914419 22 19480340 19792353 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539842 S 6533 1 0 AIFM3,BCRP2,CRKL,FLJ39582,LOC400891,LZTR1,MGC16703,P2RX6,P2RX6P,PI4KA,SLC7A4,SNAP29,THAP7 MS14518 nsv834141 22 19543743 19736241 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455715 S 95 0 1 AIFM3,CRKL,FLJ39582,LOC400891,LZTR1,MGC16703,P2RX6,P2RX6P,SLC7A4,SNAP29,THAP7 dgv4872n71 22 19632925 19692849 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914420,nsv914422,nsv914421 M 6533 0 5 AIFM3,CRKL,FLJ39582,LZTR1,MGC16703,THAP7 IS33239,IS33504,IS39233,MS10311,MS16153 nsv914423 22 19632925 19842333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568716 S 6533 1 0 AIFM3,BCRP2,CRKL,FLJ39582,LOC400891,LZTR1,MGC16703,P2RX6,P2RX6P,SLC7A4,THAP7 IS31330 nsv828960 22 19638063 19741437 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432597 S 31 0 1 AIFM3,FLJ39582,LOC400891,LZTR1,MGC16703,P2RX6,P2RX6P,SLC7A4,THAP7 AK20 nsv914424 22 19647432 19667266 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510439 S 6533 0 1 AIFM3,LZTR1 SP54956 nsv914425 22 19654308 19680880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550046 S 6533 0 1 AIFM3,LZTR1 MS18276 dgv4873n71 22 19654308 19692849 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914427,nsv914426 M 6533 0 2 AIFM3,FLJ39582,LZTR1,MGC16703,THAP7 IS32737,IS37646 nsv191576 22 19657983 19662394 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210154 M 24 AIFM3 nsv520145 22 19661556 19682120 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683783,nssv677475,nssv676752,nssv679435,nssv661206 M 2026 0 5 AIFM3,LZTR1 nsv471185 22 19661556 19717967 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545509,nssv545508 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AIFM3,FLJ39582,LZTR1,MGC16703,P2RX6,SLC7A4,THAP7 HGDP00556,HGDP00661 nsv834142 22 19664133 19854524 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455719,nssv1455718,nssv1455716,nssv1455721,nssv1455717,nssv1455720,nssv1455722,nssv1455724,nssv1455726,nssv1455725,nssv1455727,nssv1455723 M 95 12 0 AIFM3,BCRP2,FLJ39582,LOC400891,LZTR1,MGC16703,P2RX6,P2RX6P,SLC7A4,THAP7 nsv828961 22 19664942 19707648 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422741 S 31 1 0 AIFM3,FLJ39582,LZTR1,MGC16703,P2RX6,THAP7 NA18969 nsv914428 22 19672811 19686566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510440 S 6533 0 1 FLJ39582,LZTR1,THAP7 SP54956 nsv482071 22 19684061 19686404 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558432 S 1 1 0 FLJ39582,THAP7 KB1 nsv828962 22 19694834 19696323 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423558 S 31 0 1 MGC16703 NA18547 nsv3563 22 19697068 19741514 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2357 S 9 0 1 LOC400891,MGC16703,P2RX6,P2RX6P,SLC7A4 NA18555 nsv914429 22 19706092 19732726 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511853 S 6533 1 0 LOC400891,P2RX6,P2RX6P,SLC7A4 SP55125 nsv914430 22 19761181 19795780 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511854 S 6533 1 0 BCRP2 SP55125 nsv469751 22 19763071 19946240 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649772 M 265 76 0 Samples from several populations that are part of the HapMap project. BCRP2 nsv471595 22 19763072 19946240 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550401,nssv550381,nssv550405,nssv550374,nssv550393,nssv550376,nssv550390,nssv550399,nssv550375,nssv550372,nssv550398,nssv550406,nssv550373,nssv550386,nssv550388,nssv550387,nssv550383,nssv550391,nssv550389,nssv550395,nssv550380,nssv550396,nssv550397,nssv550394,nssv550403,nssv550400,nssv550384,nssv550402,nssv550385,nssv550382,nssv550379,nssv550377,nssv550404,nssv550392,nssv550378 M 48 2 33 BCRP2 JK1051,JK776,NA10469,NA10471,NA10473,NA10492,NA10493,NA10494,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11523,NA15724,NA15727,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059,P86GA nsv437849 22 19783923 20128351 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467730 S 60 0 1 Samples from several populations that are part of the HapMap project. BCRP2,HIC2,POM121L8P,RIMBP3B,RIMBP3C NA19211 nsv524039 22 19784754 19785125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699903 S 2026 0 1 "" nsv914431 22 19786518 19806645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514355 S 6533 1 0 BCRP2 SP55996 nsv438327 22 19788804 19791274 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470816,nssv470815 M 269 0 2 Samples from several populations that are part of the HapMap project. BCRP2 NA19210,NA19211 nsv820868 22 19791282 19849224 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420152 S 1 1 0 BCRP2 NA10851 esv28075 22 19791592 20127733 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17920,esv20218,esv11467,esv17510,esv12578,esv18965,esv13546,esv20535,esv19499,esv12351,esv13982,esv13618,esv13016,esv11089,esv14293,esv14153,esv10842,esv11245,esv14852,esv14167 M 451 28 39 BCRP2,HIC2,POM121L8P,RIMBP3B,RIMBP3C NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv471490 22 19795675 20125723 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547818,nssv547817,nssv547816 M 3 BCRP2,HIC2,POM121L8P,RIMBP3B,RIMBP3C dgv4874n71 22 19795780 20125656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914435,nsv914433,nsv914438,nsv914432,nsv914436,nsv914434 M 6533 6 0 BCRP2,HIC2,POM121L8P,RIMBP3B,RIMBP3C IS34185,IS38515,MS11032,MS18185,MS24503,SP55842 nsv914437 22 19842333 20244652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556697 S 6533 1 0 HIC2,PI4KAP2,POM121L8P,RIMBP3B,RIMBP3C,TMEM191C MS22112 nsv834143 22 19847992 19998605 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455751,nssv1455745,nssv1455746,nssv1455750,nssv1455747,nssv1455770,nssv1455748,nssv1455749,nssv1455752,nssv1455757,nssv1455756,nssv1455754,nssv1455753,nssv1455755,nssv1455765,nssv1455759,nssv1455760,nssv1455763,nssv1455769,nssv1455764,nssv1455762,nssv1455788,nssv1455768,nssv1455766,nssv1455773,nssv1455772,nssv1455777,nssv1455774,nssv1455785,nssv1455781,nssv1455784,nssv1455786,nssv1455787,nssv1455779,nssv1455790,nssv1455789,nssv1455771,nssv1455758,nssv1455778,nssv1455744,nssv1455740,nssv1455782,nssv1455737,nssv1455743,nssv1455775,nssv1455783,nssv1455780,nssv1455761,nssv1455742,nssv1455767,nssv1455731,nssv1455776,nssv1455730,nssv1455729,nssv1455728,nssv1455791,nssv1455735,nssv1455734,nssv1455733,nssv1455738,nssv1455741,nssv1455732,nssv1455736,nssv1455739 M 95 63 1 POM121L8P nsv834144 22 19847992 20006849 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455798,nssv1455834,nssv1455806,nssv1455797,nssv1455796,nssv1455795,nssv1455792,nssv1455794,nssv1455793,nssv1455819,nssv1455799,nssv1455801,nssv1455800,nssv1455803,nssv1455802,nssv1455833,nssv1455805,nssv1455811,nssv1455808,nssv1455807,nssv1455809,nssv1455810,nssv1455818,nssv1455814,nssv1455813,nssv1455812,nssv1455815,nssv1455816,nssv1455817,nssv1455820,nssv1455830,nssv1455822,nssv1455823,nssv1455821,nssv1455832,nssv1455824,nssv1455825,nssv1455828,nssv1455826,nssv1455827,nssv1455829,nssv1455831,nssv1455835,nssv1455850,nssv1455838,nssv1455837,nssv1455836,nssv1455840,nssv1455849,nssv1455839,nssv1455848,nssv1455843,nssv1455842,nssv1455841,nssv1455847,nssv1455844,nssv1455846,nssv1455804,nssv1455845,nssv1455851,nssv1455853,nssv1455852,nssv1455856,nssv1455854,nssv1455855 M 95 65 0 POM121L8P nsv191429 22 19867817 19867870 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210007 M 24 "" nsv191577 22 19868511 19868618 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210155 M 24 "" nsv514962 22 19869440 19879148 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627205 S 1414 0 0 "" nsv820373 22 19894170 19964274 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420153 S 1 1 0 "" NA10851 dgv4875n71 22 19959308 20180634 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914441,nsv914439,nsv914440 M 6533 4 0 HIC2,PI4KAP2,POM121L8P,RIMBP3B,RIMBP3C,TMEM191C IS30406,IS32523,MS10378,MS25789 nsv509811 22 20000179 20013362 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623845,nssv619871,nssv621144 M 4 3 0 "" NA10860,NA15510,NA18994 dgv4876n71 22 20007332 20052066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914446,nsv914442 M 6533 0 2 "" IS40038,SP54988 nsv914443 22 20007332 20077678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588627 S 6533 0 1 RIMBP3B,RIMBP3C IS38224 nsv914444 22 20007332 20077678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516922 S 6533 1 0 RIMBP3B,RIMBP3C SP56975 dgv4877n71 22 20007332 20125656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914445,nsv914447 M 6533 7 0 HIC2,RIMBP3B,RIMBP3C IS30189,IS37752,IS37990,MS14250,MS16286,MS16506,MS23648 nsv7350 22 20010249 25976667 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4573,nssv6967,nssv9606,nssv6978,nssv5922,nssv11046,nssv10316,nssv1639,nssv6968,nssv5926,nssv5921 M 9 0 0 ADORA2A,ADRBK2,ASPHD2,BCR,BCRP3,C22orf13,C22orf15,C22orf36,C22orf43,C22orf45,CABIN1,CCDC116,CES5AP1,CHCHD10,CRYBA4,CRYBB1,CRYBB2,CRYBB2P1,CRYBB3,DDT,DDTL,DERL3,FBXW4P1,GGT1,GGT5,GGTLC2,GNAZ,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,HIC2,HPS4,IGLL1,IGLL3P,IGLL5,KIAA1671,LOC100128531,LOC284889,LOC391322,LOC648691,LOC96610,LRP5L,MAPK1,MIAT,MIF,MIR1302-1,MIR130B,MIR301B,MIR548J,MIR650,MMP11,MYO18B,PI4KAP2,PIWIL3,POM121L10P,POM121L1P,POM121L9P,PPIL2,PPM1F,PRAME,RAB36,RGL4,RIMBP3B,RIMBP3C,RTDR1,SDF2L1,SEZ6L,SGSM1,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SRRD,SUSD2,TFIP11,TMEM191C,TMEM211,TOP1P2,TOP3B,TPST2,UBE2L3,UPB1,VPREB1,VPREB3,YDJC,YPEL1,ZDHHC8P1,ZNF280A,ZNF280B,ZNF70 NA12156,NA12878,NA15510,NA18507,NA18956,NA19129,NA19240 nsv191300 22 20012628 20012702 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209878 M 24 "" nsv428386 22 20013210 20280089 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453979,nssv453965,nssv453976,nssv453967,nssv453968,nssv453989,nssv453980,nssv453984,nssv453982,nssv453983,nssv453978,nssv453972,nssv453981,nssv453985,nssv453970,nssv453966,nssv453977,nssv453987,nssv453988,nssv453974,nssv453969,nssv453973,nssv453971 M 62 0 23 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C,UBE2L3 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00473,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19113,NA19181,NA19189,NA19225,NA19257 nsv914448 22 20018852 20157039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532553 S 6533 0 1 HIC2,RIMBP3B,RIMBP3C,TMEM191C MS10769 dgv4878n71 22 20018852 20186287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914452,nsv914451,nsv914449,nsv914454,nsv914450,nsv914453 M 6533 6 0 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C IS30135,IS36071,IS37573,IS41791,MS16160,MS20967 nsv469545 22 20020195 20226229 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649655 M 265 44 0 Samples from several populations that are part of the HapMap project. HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C nsv471596 22 20020196 20226229 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549106,nssv549109,nssv549118,nssv549108,nssv549117,nssv549100,nssv549123,nssv549114,nssv549112,nssv549115,nssv549121,nssv549104,nssv549110,nssv549120,nssv549105,nssv549124,nssv549113,nssv549119,nssv549101,nssv549102,nssv549099,nssv549107,nssv549122,nssv549111,nssv549116,nssv549103 M 48 2 24 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C JK1688,NA10469,NA10471,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA15724,NA15726,NA15727,NA15729,NA15730,NA15731,NA15733,NA16688,NA17015,NA17016,NA17051,NA17052,NA17058 nsv511071 22 20046750 20253375 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622436 S 4 0 0 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C,UBE2L3 NA10860 nsv442791 22 20055998 20175294 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C dgv4879n71 22 20077678 20186287 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914456,nsv914455 M 6533 0 2 HIC2,PI4KAP2,TMEM191C IS40799,MS16153 nsv914457 22 20077678 20213749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531049 S 6533 0 1 HIC2,PI4KAP2,TMEM191C MS10311 nsv914458 22 20077678 20400489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586125 S 6533 0 1 CCDC116,HIC2,MIR130B,MIR301B,PI4KAP2,PPIL2,RIMBP3B,RIMBP3C,SDF2L1,TMEM191C,UBE2L3,YDJC,YPEL1 IS37646 nsv834145 22 20105069 20280089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455857,nssv1455859,nssv1455858 M 95 0 3 HIC2,PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C,UBE2L3 nsv828963 22 20131601 20142110 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435611 S 31 0 1 HIC2 NA18942 nsv828965 22 20133595 20134633 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422753 S 31 1 0 HIC2 NA18969 dgv4880n71 22 20139185 20213749 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914459,nsv914460,nsv914463 M 6533 4 0 PI4KAP2,TMEM191C IS30041,MS17056,MS19177,SP50059 nsv914461 22 20139185 20244652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598323,nssv1536123,nssv1580608 M 6533 3 0 PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C IS35388,IS40950,MS12630 nsv914462 22 20141991 20180634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516757 S 6533 1 0 PI4KAP2,TMEM191C SP56926 esv25508 22 20142750 20249744 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21238,esv20303 M 451 1 36 PI4KAP2,RIMBP3B,RIMBP3C,TMEM191C NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv192 22 20160891 20180436 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv192 S 1 0 0 PI4KAP2 NA15510 dgv4881n71 22 20294761 20387273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914465,nsv914464,nsv914466 M 6533 0 5 CCDC116,MIR130B,MIR301B,PPIL2,SDF2L1,UBE2L3,YDJC,YPEL1 IS32737,IS32841,IS39233,MS16153,MS18276 nsv516806 22 20312892 20327070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671059,nssv674169,nssv656215,nssv659433,nssv659272 M 2026 0 5 CCDC116,SDF2L1,YDJC dgv4882n71 22 20312892 20400489 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914468,nsv914467 M 6533 0 2 CCDC116,MIR130B,MIR301B,PPIL2,SDF2L1,YDJC,YPEL1 MS10311,MS17208 nsv914469 22 20315094 20340918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510441 S 6533 0 1 CCDC116,MIR130B,MIR301B,SDF2L1 SP54956 nsv510804 22 20354531 20462764 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619021 S 4 0 1 MAPK1,PPIL2,YPEL1 NA10860 nsv528344 22 20375603 20376787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704927 S 2026 0 1 PPIL2 nsv191511 22 20382566 20388785 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210089 M 24 YPEL1 dgv4883n71 22 20461125 20602737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914470,nsv914471 M 6533 0 4 MAPK1 MS14485,MS18742,MS19798,MS21356 nsv3564 22 20465136 20496505 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5923 S 9 1 0 MAPK1 NA19129 dgv20e196 22 20474108 20772159 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422277,esv2422295 M 181 2 0 MAPK1,PPM1F,TOP3B ND04305,ND05283 esv2422374 22 20482248 20925246 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161419 S 181 1 0 MAPK1,PPM1F,TOP3B ND05052 dgv256n21 22 20525075 20535611 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525475,nsv517918 M 2026 0 2 MAPK1 dgv22e196 22 20528324 21061587 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422372,esv2422223 M 181 0 2 LOC96610,MAPK1,PPM1F,TOP3B,VPREB1 ND01674,ND03527 nsv527816 22 20529970 20534793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704311 S 2026 0 1 MAPK1 esv2422338 22 20540933 20747406 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161529 S 181 0 1 MAPK1,PPM1F,TOP3B ND01567 dgv23e196 22 20550046 20903631 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422458,esv2422394 M 181 0 2 MAPK1,PPM1F,TOP3B ND03071,ND05067 nsv469782 22 20579118 20753071 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649803 M 265 2 0 Samples from several populations that are part of the HapMap project. PPM1F,TOP3B nsv834146 22 20579119 20753071 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455861,nssv1455860 M 95 2 0 PPM1F,TOP3B esv2422476 22 20586588 20626499 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161496 S 181 0 1 PPM1F ND01220 dgv4884n71 22 20596577 20658349 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914474,nsv914472 M 6533 0 4 PPM1F,TOP3B IS30197,IS33684,IS40799,MS10311 nsv914473 22 20596577 20679088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547096 S 6533 0 1 PPM1F,TOP3B MS17208 nsv3566 22 20599624 20631170 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11047 S 9 1 0 PPM1F NA15510 nsv828966 22 20607124 20680308 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432599 S 31 0 1 PPM1F,TOP3B AK20 nsv516394 22 20620403 20914255 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698845,nssv672569,nssv680307,nssv684623,nssv677659,nssv696599,nssv687409,nssv691773,nssv655286,nssv669405,nssv685519,nssv704076,nssv683651,nssv672471,nssv694868,nssv686813,nssv673240,nssv682931,nssv705336,nssv699051,nssv695056,nssv668016 M 2026 12 10 PPM1F,TOP3B dgv1388e1 22 20625103 20738604 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2594,esv315,essv6385 M 271 0 0 PPM1F,TOP3B NA18572,NA18990 nsv914475 22 20630941 20716617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590938 S 6533 1 0 PPM1F,TOP3B IS38604 dgv4885n71 22 20630941 20910314 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914485,nsv914489,nsv914500,nsv914496,nsv915040,nsv914501,nsv914506,nsv914479,nsv914476,nsv914502,nsv914507,nsv914477,nsv914505,nsv914487,nsv914503,nsv914495,nsv914478,nsv914480,nsv914484,nsv914486,nsv914490,nsv914483,nsv914488 M 6533 30 0 PPM1F,TOP3B IS30174,IS31011,IS33188,IS33533,IS33622,IS34856,IS35015,IS35245,IS35682,IS36131,IS37996,IS38030,IS38425,IS38627,IS38993,IS39061,IS39999,IS40832,IS41202,IS41889,MS17674,SP50927,SP52448,SP53569,SP54490,SP55138,SP56120,SP56894,SP57449,SP57634 dgv4886n71 22 20637381 20690650 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914493,nsv914481,nsv914482 M 6533 3 0 TOP3B IS40073,MS13401,SP56794 dgv4887n71 22 20637381 20910314 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914491,nsv914494 M 6533 13 7 TOP3B IS34825,IS36173,IS36559,IS36854,IS37293,IS37651,IS38567,IS40818,IS41825,IS41837,MS10685,MS16107,MS16228,SP50029,SP50756,SP51043,SP51300,SP56830,SP56842,SP57410 nsv914492 22 20637381 20913252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547653 S 6533 0 1 TOP3B MS17504 esv27307 22 20638772 20644042 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12660 S 451 4 0 TOP3B NA07045,NA12239,NA12489,NA19108 dgv545n27 22 20644463 20909801 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459409,nsv459404,nsv459416,nsv459422,nsv459405,nsv459415,nsv459408,nsv459406 M 1557 8 0 TOP3B 1780854100_A,1780854430_A,1780862529_A,HGDP00954,HGDP01211,HGDP01396,NINDS_202,NINDS_247 dgv546n27 22 20658391 20909801 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459410,nsv459428 M 1557 0 2 TOP3B 1798860049_A,HGDP00963 nsv526328 22 20658391 21241060 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702618 S 2026 1 0 LOC648691,LOC96610,PRAME,TOP3B,VPREB1,ZNF280A,ZNF280B dgv4888n71 22 20659747 20776460 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914498,nsv914497 M 6533 2 0 TOP3B IS30163,SP52365 nsv914499 22 20659747 20836071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527107 S 6533 1 0 TOP3B SP58164 nsv459421 22 20666512 21241060 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536158 S 1557 1 0 LOC648691,LOC96610,PRAME,TOP3B,VPREB1,ZNF280A,ZNF280B NINDS_272 nsv914504 22 20666708 20716617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545482 S 6533 1 0 TOP3B MS16801 nsv459423 22 20692353 20722333 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536160 S 1557 0 1 "" NINDS_139 dgv1389e1 22 20698853 20738604 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18941,essv11288,essv10770,essv21340,essv24387 M 271 0 0 "" NA12005,NA12707,NA12878,NA18523,NA19204 nsv428387 22 20698853 20738604 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453990 S 62 0 1 "" HGDP00986 nsv915041 22 20701889 20811498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572347 S 6533 1 0 "" IS32992 esv268033 22 20706413 20706671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543853,essv2570600,essv2576783,essv2547187,essv2530624,essv2562065 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12044,NA12154,NA12717,NA12873,NA12874 nsv438328 22 20711045 20715006 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470817 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv459424 22 20711327 20724749 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536161 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01385 nsv459425 22 20711327 20768050 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536162 S 1557 0 1 "" 1780862071_A nsv433326 22 20715006 20724144 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463207 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv438329 22 20716434 20724227 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470820,nssv470819 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12707,NA12716 nsv442504 22 20716438 20721593 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv817937 22 20718332 21506986 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416211 S 112 0 1 GGTLC2,LOC648691,LOC96610,MIR650,POM121L1P,PRAME,VPREB1,ZNF280A,ZNF280B NA12878 dgv4889n71 22 20719011 20910314 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915122,nsv915042,nsv915121,nsv915045,nsv915044,nsv915123,nsv915048,nsv915043 M 6533 8 0 "" IS40073,IS41956,MS13401,MS20583,SP53560,SP53885,SP56108,SP56794 dgv4890n71 22 20724144 20861525 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915047,nsv915046,nsv915125,nsv915124 M 6533 4 0 "" IS38604,IS41973,MS16801,SP52365 nsv433327 22 20730423 20767439 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463208 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv548n27 22 20731006 21441861 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459449,nsv459443,nsv459447,nsv459435 M 1557 0 4 GGTLC2,LOC648691,LOC96610,POM121L1P,PRAME,VPREB1,ZNF280A,ZNF280B HGDP00723,HGDP00775,HGDP00903,HGDP01062 nsv438330 22 20756901 20776575 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470821,nssv470823,nssv470822 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA12707,NA12716,NA12878 nsv433328 22 20770829 20829309 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463209 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv820089 22 20783541 21027290 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418795 S 2 1 0 LOC96610,VPREB1 AK1 dgv728n67 22 20783565 20939395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828967,nsv828968 M 31 0 3 VPREB1 AK2,AK20,NA18542 nsv459436 22 20784580 20797906 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536173 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00924 nsv438331 22 20784580 20813912 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470825,nssv470826,nssv470827,nssv470828,nssv470824,nssv470830 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10839,NA12005,NA12707,NA12716 nsv817938 22 20784580 20880884 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416118 S 112 0 1 "" NA12813 dgv37n64 22 20784580 21046568 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817940,nsv817941,nsv817942 M 112 0 3 LOC96610,VPREB1 NA07348,NA10851,NA18972 nsv915126 22 20785321 20910314 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564091 S 6533 1 0 "" IS30163 nsv459438 22 20789157 20828374 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536175 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00129 nsv915127 22 20795544 20836071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569360 S 6533 0 1 "" IS31563 nsv507927 22 20796783 20802783 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623319 S 4 1 0 "" NA18994 nsv3568 22 20803830 20823672 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3079,nssv6970 M 9 2 0 "" NA12156,NA18555 esv1420599 22 20805229 20805229 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925294 S 2 1 0 "" HuRef nsv508725 22 20805424 20816504 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621145 S 4 1 0 "" NA15510 nsv915128 22 20813891 20838432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582389 S 6533 0 1 "" IS35911 nsv828969 22 20814877 20817540 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431162 S 31 1 0 "" NA18968 esv273746 22 20816335 20822402 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580899 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv272021 22 20816352 20822430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525855,essv2542237,essv2544063,essv2556501,essv2545380,essv2570432,essv2548413,essv2525392,essv2554239,essv2520463,essv2564547,essv2577863,essv2559644,essv2562013,essv2557146,essv2552613,essv2523536,essv2541237,essv2542805,essv2540649,essv2524729,essv2565148,essv2534562,essv2539531,essv2549534,essv2519638,essv2531092,essv2567976,essv2541754,essv2570027,essv2559001,essv2542209,essv2551184,essv2572965,essv2533449,essv2566337,essv2573838,essv2557669,essv2534263,essv2543169,essv2572041,essv2525576,essv2575413,essv2575036,essv2538510,essv2526594,essv2560604,essv2524298,essv2572775,essv2545037,essv2546133,essv2533349,essv2554638,essv2548004 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA11918,NA11919,NA11992,NA11994,NA12003,NA12044,NA12045,NA12156,NA12287,NA12716,NA12751,NA12761,NA12776,NA12874,NA18501,NA18502,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18573,NA18577,NA18592,NA18593,NA18638,NA18856,NA18858,NA18942,NA18944,NA18948,NA18951,NA18953,NA18959,NA18965,NA18973,NA18980,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19143,NA19172,NA19239 esv990090 22 20816379 20816544 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564431 S 3 1 0 "" HuRef nsv438332 22 20819908 20831833 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470831 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv438333 22 20835322 20836340 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470832,nssv470833 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv433329 22 20847205 20850752 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463210 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv549n27 22 20847205 20852265 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459442,nsv459439 M 1557 0 2 "" 1780854009_A,HGDP00655 nsv438334 22 20847205 20863579 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470834 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 dgv4891n71 22 20848789 20910314 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915130,nsv915131,nsv915129,nsv915134,nsv915133,nsv915135 M 6533 10 0 "" IS33188,IS37996,IS38030,IS38425,IS38604,IS38627,MS16801,SP52365,SP57634,SP58164 nsv459444 22 20849771 20853687 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536181 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00812 nsv915132 22 20849771 20880884 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523034 S 6533 1 0 "" SP53569 nsv459445 22 20861572 20880884 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536182 S 1557 0 1 "" NINDS_53 nsv828970 22 20861829 20862534 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437182 S 31 1 0 "" NA18542 esv268752 22 20864100 20864437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517036,essv2518575,essv2518078,essv2514405,essv2517799,essv2516234,essv2516914,essv2517220,essv2515212,essv2518882,essv2518431,essv2519483,essv2513608 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11931,NA12287,NA12872,NA12874,NA12878,NA12891,NA12892,NA18970,NA19238,NA19239,NA19240 esv274144 22 20864105 20864432 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581678,essv2582444,essv2582963,essv2584313,essv2584474,essv2583764 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2376226 22 20866344 20866755 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569451 S 1 0 1 "" NA18507 nsv438335 22 20866498 20886662 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470835 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA12873 nsv433330 22 20866846 20899035 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463211 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv7705 22 20867395 20867461 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30146 S 1 1 0 "" SJK nsv915136 22 20879168 20897762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601148 S 6533 1 0 "" IS41973 nsv915137 22 20879168 20909130 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507216 S 6533 1 0 "" SP54490 nsv469749 22 20885598 21052931 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649770 M 265 0 2 Samples from several populations that are part of the HapMap project. LOC96610,VPREB1 nsv834147 22 20888149 21081668 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455862 S 95 0 1 LOC96610,VPREB1 nsv915138 22 20892874 20909130 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516340 S 6533 1 0 "" SP56794 nsv459448 22 20892874 20909801 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536185 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01386 dgv729n67 22 20896520 20897546 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828971,nsv828973,nsv828972 M 31 0 3 "" AK4,NA18949,NA18999 dgv730n67 22 20896761 20897515 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828974,nsv828976 M 31 0 2 "" NA18537,NA18592 nsv459450 22 20897762 21196423 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536187 S 1557 0 1 LOC96610,VPREB1,ZNF280B 1780862226_A esv2544553 22 20899075 20930995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248979 S 1 0 1 VPREB1 NA18507 nsv915139 22 20899758 20939828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570304 S 6533 0 1 VPREB1 IS31875 nsv817943 22 20901854 21078498 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417081 S 112 0 1 LOC96610,VPREB1 NA06994 esv2422480 22 20903631 21252539 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161270 S 181 0 1 LOC648691,LOC96610,PRAME,VPREB1,ZNF280A,ZNF280B ND03522 nsv459451 22 20903637 20930912 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536188 S 1557 0 1 VPREB1 NINDS_51 nsv433331 22 20909822 20930912 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463212 S 9 0 1 Samples from several populations that are part of the HapMap project. VPREB1 NA12878 nsv915140 22 20930912 21011312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592736 S 6533 1 0 LOC96610 IS39243 esv2507410 22 20934697 20991649 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344337 S 1 0 1 LOC96610 NA18507 nsv828977 22 20999466 21241909 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437174 S 31 0 1 LOC648691,LOC96610,PRAME,ZNF280A,ZNF280B NA18592 nsv828979 22 20999466 21577178 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437183,nssv1431630 M 31 1 1 GGTLC2,IGLL5,LOC648691,LOC96610,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B NA18542,NA18947 dgv731n67 22 20999466 21579016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828985,nsv828980,nsv828978,nsv828983 M 31 0 4 GGTLC2,IGLL5,LOC648691,LOC96610,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B AK20,NA18526,NA18949,NA18972 esv33844 22 21007308 21086336 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95760,essv94564 M 51 2 0 LOC96610 21911,21932 nsv459453 22 21011312 21053471 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536190 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00674 nsv459454 22 21011312 21081104 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536191 S 1557 1 0 "" 1780862484_A dgv550n27 22 21011312 21395320 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459456,nsv459457,nsv459466,nsv459455 M 1557 0 4 GGTLC2,LOC648691,POM121L1P,PRAME,ZNF280A,ZNF280B HGDP00575,HGDP00932,HGDP01067,HGDP01086 dgv38n64 22 21011312 21441861 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817954,nsv817949,nsv817945,nsv817944,nsv817947 M 112 0 5 GGTLC2,LOC648691,POM121L1P,PRAME,ZNF280A,ZNF280B NA11993,NA12044,NA12239,NA12249,NA12740 dgv551n27 22 21011312 21585869 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459533,nsv459483,nsv459532,nsv459505,nsv459512,nsv459477,nsv459516,nsv459465,nsv459472,nsv459467,nsv459508,nsv459459,nsv459501,nsv459506,nsv459471,nsv459536,nsv459535,nsv459482,nsv459462,nsv459481,nsv459484,nsv459509,nsv459534,nsv459497,nsv459461,nsv459464,nsv459468,nsv459537,nsv459510,nsv459458,nsv459525,nsv459460 M 1557 0 32 GGTLC2,IGLL5,LOC648691,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B 1780854339_A,1780854522_A,1780862127_A,1780862165_A,1780862547_A,1798860280_A,1798860443_A,HGDP00262,HGDP00267,HGDP00407,HGDP00460,HGDP00476,HGDP00517,HGDP00522,HGDP00527,HGDP00542,HGDP00546,HGDP00600,HGDP00604,HGDP00606,HGDP00693,HGDP00772,HGDP00777,HGDP00914,HGDP01021,HGDP01203,HGDP01226,HGDP01238,HGDP01260,NINDS_106,NINDS_90,NINDS_91 nsv433333 22 21011765 21031823 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463214 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv438336 22 21024486 21032291 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470837,nssv470836 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18523,NA18871 nsv521774 22 21024486 21059183 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694096 S 2026 1 0 "" nsv459469 22 21024486 21109628 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536206 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00821 nsv819943 22 21027245 21029096 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419342 S 2 1 0 "" AK1 nsv819114 22 21029096 21082102 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418749 S 2 1 0 "" AK1 nsv459470 22 21030102 21080190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536207 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01023 nsv3569 22 21030561 21065515 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7733,nssv1633,nssv2358 M 9 3 0 "" NA12156,NA18555,NA19240 nsv438338 22 21032390 21564096 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470925,nssv470875,nssv470859,nssv470902,nssv470853,nssv470883,nssv470922,nssv470862,nssv470873,nssv470900,nssv470893,nssv470908,nssv470878,nssv470884,nssv470889,nssv470872,nssv470877,nssv470886,nssv470914,nssv470919,nssv470854,nssv470871,nssv470847,nssv470926,nssv470887,nssv470857,nssv470906,nssv470839,nssv470869,nssv470909,nssv470864,nssv470855,nssv470891,nssv470842,nssv470844,nssv470881,nssv470882,nssv470850,nssv470911,nssv470845,nssv470915,nssv470903,nssv470916,nssv470923,nssv470879,nssv470904,nssv470921,nssv470920,nssv470860,nssv470917,nssv470912,nssv470905,nssv470898,nssv470838,nssv470858,nssv470865,nssv470866,nssv470841,nssv470901,nssv470897,nssv470924,nssv470861,nssv470888,nssv470870,nssv470856,nssv470894,nssv470868,nssv470880,nssv470913,nssv470927,nssv470910,nssv470867,nssv470890,nssv470848,nssv470849,nssv470876,nssv470899,nssv470892,nssv470895,nssv470843,nssv470846 M 269 0 38 Samples from several populations that are part of the HapMap project. GGTLC2,IGLL5,LOC648691,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B NA06985,NA06994,NA07048,NA07055,NA07357,NA10831,NA10839,NA10846,NA10855,NA10857,NA10860,NA11831,NA11992,NA11993,NA12005,NA12044,NA12707,NA12716,NA12801,NA12813,NA12864,NA12873,NA18500,NA18502,NA18523,NA18526,NA18871,NA18914,NA18943,NA18945,NA18972,NA19140,NA19142,NA19144,NA19145,NA19154,NA19203,NA19205 esv259511 22 21033270 21082675 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394005,essv2394335 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 dgv732n67 22 21034423 21035296 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv828982,nsv828981 M 31 3 0 "" AK6,NA18968,NA18999 nsv834149 22 21035693 21227208 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455864,nssv1455863,nssv1455865,nssv1455866 M 95 0 4 PRAME,ZNF280A,ZNF280B esv7273 22 21035973 21058950 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29714 S 1 0 1 "" SJK nsv459473 22 21036563 21052482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536210 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863 nsv459475 22 21039509 21059244 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536212 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01032 nsv508726 22 21040356 21086528 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621146,nssv619873,nssv623846,nssv619872 M 4 3 0 "" NA10860,NA15510,NA18994 nsv459476 22 21041762 21052482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536213 S 1557 0 1 "" 1780862311_A nsv915141 22 21041786 21061758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575556,nssv1582441 M 6533 2 0 "" IS33772,IS35952 dgv4892n71 22 21041786 21064671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915143,nsv915142 M 6533 0 9 "" IS33192,IS33419,IS33575,IS34684,IS36559,IS38270,IS38735,IS40247,IS41979 dgv4893n71 22 21041786 21075525 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv915144,nsv915145 M 6533 9 40 "" IS30198,IS30280,IS30531,IS30838,IS31039,IS31218,IS31564,IS31634,IS33087,IS33140,IS33148,IS33566,IS34429,IS35076,IS35174,IS35177,IS35190,IS35803,IS36065,IS36440,IS36600,IS37068,IS37960,IS37964,IS38087,IS38240,IS38293,IS38583,IS38620,IS38634,IS38652,IS38688,IS39394,IS39407,IS39759,IS39780,IS39923,IS40047,IS40145,IS40226,IS40333,IS40673,IS40703,IS40838,IS40890,IS40944,IS41189,IS41926,SP50555 esv1007524 22 21042265 21293055 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586763 S 3 1 0 LOC648691,PRAME,ZNF280A,ZNF280B HuRef nsv828984 22 21042592 21043464 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437184 S 31 1 0 "" NA18542 nsv469735 22 21044594 21207593 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649756 M 265 0 6 Samples from several populations that are part of the HapMap project. ZNF280A,ZNF280B esv996565 22 21045173 21045587 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564357 S 3 1 0 "" HuRef nsv459478 22 21046568 21053471 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536215 S 1557 0 1 "" 1780854459_A dgv552n27 22 21046568 21066291 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459479,nsv459486,nsv459480 M 1557 0 3 "" HGDP00243,HGDP00290,HGDP00412 dgv4894n71 22 21046568 21075525 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915175,nsv915206,nsv915173,nsv915153,nsv915177,nsv915176,nsv915152,nsv915172,nsv915146,nsv915178 M 6533 110 0 "" IS30051,IS30138,IS30213,IS30455,IS30504,IS30547,IS30653,IS30824,IS31118,IS31294,IS31346,IS31778,IS31835,IS31875,IS32006,IS32282,IS32429,IS32858,IS33060,IS33345,IS33507,IS33553,IS33689,IS33721,IS33771,IS33800,IS34352,IS34472,IS34482,IS34526,IS34895,IS35181,IS35225,IS35231,IS35287,IS35519,IS35538,IS35548,IS35654,IS35670,IS35676,IS35771,IS35974,IS36077,IS36195,IS36330,IS36396,IS36640,IS36882,IS36911,IS37664,IS37861,IS37969,IS37974,IS38093,IS38101,IS38115,IS38211,IS38399,IS38400,IS38419,IS38421,IS38440,IS38463,IS38504,IS38505,IS38542,IS38611,IS38704,IS38995,IS39061,IS39095,IS39352,IS39386,IS39399,IS39414,IS39457,IS39509,IS39687,IS39861,IS40241,IS40334,IS40380,IS40415,IS40440,IS40577,IS40606,IS40616,IS40662,IS40834,IS40954,IS41483,IS41576,IS41657,IS41739,IS41791,IS41860,IS41874,IS41920,IS41922,IS41944,MS13744,MS14157,MS14330,MS14353,MS14764,MS15628,MS15782,MS16107,MS22279 dgv39n64 22 21046568 21554058 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817955,nsv817948,nsv817946,nsv817952 M 112 0 4 GGTLC2,LOC648691,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B NA06994,NA07357,NA12801,NA18972 dgv4895n71 22 21047055 21059244 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915147,nsv915148 M 6533 2 0 "" IS32666,MS10611 dgv4896n71 22 21047055 21064671 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915149,nsv915150,nsv915151,nsv915174 M 6533 8 0 "" IS30067,IS33829,IS33970,IS34630,IS37704,IS37990,IS39248,IS40990 dgv553n27 22 21047444 21078498 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459490,nsv459489,nsv459491,nsv459488,nsv459492,nsv459487 M 1557 6 0 "" HGDP00001,HGDP00054,HGDP00191,HGDP00206,HGDP00208,HGDP00230 nsv459493 22 21051299 21080190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536229 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00444 nsv459494 22 21051299 21136795 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536230 S 1557 0 1 "" NINDS_109 nsv518537 22 21051700 21070855 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695981 S 2026 1 0 "" nsv459495 22 21056372 21070855 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536231 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01099 nsv915207 22 21056670 21075525 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563365 S 6533 1 0 "" MS25968 dgv554n27 22 21058476 21078498 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459498,nsv459499 M 1557 0 2 "" HGDP00234,HGDP00945 dgv23n14 22 21059183 21199129 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433334,nsv433335 M 9 0 2 ZNF280A,ZNF280B NA12878,NA18517 dgv555n27 22 21059183 21392890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459531,nsv459544,nsv459541,nsv459500,nsv459526,nsv459542,nsv459523,nsv459503 M 1557 0 8 GGTLC2,LOC648691,POM121L1P,PRAME,ZNF280A,ZNF280B 1780854449_A,1780854484_A,1780862460_A,HGDP00736,HGDP01047,HGDP01193,NINDS_104,NINDS_64 nsv915208 22 21059244 21115308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522069 S 6533 1 0 "" SP52713 esv8494 22 21062164 21113584 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30935 S 1 0 1 "" SJK dgv556n27 22 21063401 21219528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459519,nsv459530,nsv459502,nsv459528 M 1557 0 4 ZNF280A,ZNF280B 1780854511_A,HGDP00798,HGDP01359,NINDS_220 nsv193 22 21065827 21085419 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv193 S 1 1 0 "" NA15510 nsv3570 22 21065827 21092785 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1634,nssv6971,nssv11048 M 9 3 0 "" NA12156,NA15510,NA19240 dgv4897n71 22 21066291 21092651 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915209,nsv915210 M 6533 0 5 "" SP54430,SP55507,SP55992,SP56084,SP57925 dgv557n27 22 21066291 21506986 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459543,nsv459524,nsv459514,nsv459504 M 1557 0 4 GGTLC2,LOC648691,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B HGDP00472,HGDP00474,HGDP00634,HGDP00970 dgv558n27 22 21070855 21290419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459515,nsv459520,nsv459522,nsv459511 M 1557 0 4 LOC648691,PRAME,ZNF280A,ZNF280B HGDP00169,HGDP00234,HGDP00319,HGDP00938 dgv559n27 22 21075525 21109628 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459517,nsv459513 M 1557 0 2 "" HGDP00462,HGDP00736 nsv820027 22 21082075 21084304 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419405 S 2 1 0 "" AK1 esv1008194 22 21082588 21090938 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563555 S 3 1 0 "" HuRef nsv819428 22 21084304 21559204 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418805 S 2 1 0 GGTLC2,LOC648691,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B AK1 nsv514963 22 21084320 21368160 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628368 S 1414 0 0 GGTLC2,LOC648691,POM121L1P,PRAME,ZNF280A,ZNF280B nsv459527 22 21100917 21122400 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536262 S 1557 0 1 "" NINDS_49 nsv817953 22 21100917 21191994 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415716 S 112 1 0 ZNF280B NA12248 nsv834150 22 21112875 21296725 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455873,nssv1455871,nssv1455872,nssv1455869,nssv1455870,nssv1455868,nssv1455867 M 95 0 7 LOC648691,PRAME,ZNF280A,ZNF280B nsv817956 22 21122400 21169559 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416521 S 112 0 1 ZNF280B NA18517 nsv459538 22 21122400 21172957 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536273 S 1557 0 1 ZNF280B 1780854436_A nsv459539 22 21122400 21270634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536274 S 1557 0 1 LOC648691,PRAME,ZNF280A,ZNF280B NINDS_203 nsv821694 22 21133087 21518308 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421332 S 31 0 1 GGTLC2,LOC648691,MIR650,POM121L1P,PRAME,ZNF280A,ZNF280B nsv817957 22 21147621 21250212 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417559 S 112 1 0 LOC648691,PRAME,ZNF280A,ZNF280B NA18971 nsv915211 22 21150934 21239590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525995 S 6533 0 1 LOC648691,PRAME,ZNF280A,ZNF280B SP56914 nsv459546 22 21154282 21196423 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536280 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF280B HGDP01066 nsv817958 22 21163756 21196423 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417212 S 112 1 0 ZNF280B NA18558 nsv915212 22 21171102 21219226 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521862 S 6533 1 0 ZNF280A,ZNF280B SP52614 nsv508727 22 21186267 21224782 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619874,nssv621147,nssv623847 M 4 3 0 PRAME,ZNF280A,ZNF280B NA10860,NA15510,NA18994 nsv511072 22 21186267 21224782 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618682 S 4 0 0 PRAME,ZNF280A,ZNF280B CHM nsv459548 22 21190129 21221308 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536281 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRAME,ZNF280A,ZNF280B HGDP01239 esv33016 22 21192132 21202647 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93212 S 51 1 0 ZNF280A,ZNF280B 22170 dgv4898n71 22 21196423 21239590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915233,nsv915213 M 6533 0 2 LOC648691,PRAME,ZNF280A IS41853,MS25976 nsv194 22 21196986 21209626 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv194 S 1 1 0 ZNF280A NA15510 nsv3571 22 21196986 21217005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5924,nssv2359,nssv1636,nssv10317,nssv6972,nssv11049 M 9 6 0 ZNF280A NA12156,NA15510,NA18555,NA18956,NA19129,NA19240 dgv560n27 22 21199218 21401228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459550,nsv459549 M 1557 0 2 GGTLC2,LOC648691,POM121L1P,PRAME,ZNF280A HGDP00614,HGDP00925 nsv433336 22 21201157 21220792 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463217 S 9 0 1 Samples from several populations that are part of the HapMap project. PRAME,ZNF280A NA18517 dgv4899n71 22 21201157 21229234 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915214,nsv915234 M 6533 0 2 PRAME,ZNF280A MS18454,SP81335 esv1224882 22 21208336 21208336 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330750 S 2 1 0 "" HuRef nsv469742 22 21216221 21417127 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649763 M 265 24 20 Samples from several populations that are part of the HapMap project. GGTLC2,LOC648691,POM121L1P,PRAME nsv433337 22 21232952 21330753 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463218 S 9 0 1 Samples from several populations that are part of the HapMap project. GGTLC2,LOC648691,POM121L1P NA12878 esv2637176 22 21235011 21239368 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214318 S 1 0 1 LOC648691 NA18507 esv2621638 22 21235306 21240023 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293859 S 1 0 1 LOC648691 NA18507 esv2199435 22 21235905 21239617 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553604 S 1 0 1 LOC648691 NA18507 nsv459553 22 21246106 21564792 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536286 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GGTLC2,IGLL5,MIR650,POM121L1P HGDP01037 nsv191339 22 21250875 21250926 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209917 M 24 "" nsv834151 22 21253838 21445636 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455878,nssv1455882,nssv1455880,nssv1455881,nssv1455875,nssv1455877,nssv1455874,nssv1455876,nssv1455879 M 95 0 9 GGTLC2,POM121L1P nsv520343 22 21254995 21255702 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691022,nssv689764,nssv663080 M 2026 0 3 "" esv2078935 22 21258182 21258654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847597 S 1 0 1 "" NA18507 nsv510512 22 21259154 21265154 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622326 S 4 0 1 "" NA10860 nsv817959 22 21270634 21295702 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415798 S 112 1 0 "" NA12874 dgv4900n71 22 21301768 21980987 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915235,nsv915236 M 6533 2 0 BCR,FBXW4P1,GGTLC2,GNAZ,IGLL5,MIR650,POM121L1P,RAB36,RTDR1 IS38491,IS38520 esv990735 22 21328068 21565764 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586433 S 3 1 0 IGLL5,MIR650 HuRef nsv459554 22 21328337 21352027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536287 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00371 nsv521695 22 21328337 21978009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698316 S 2026 0 1 BCR,FBXW4P1,GNAZ,IGLL5,MIR650,RAB36,RTDR1 nsv459555 22 21331481 21392864 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536288 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00445 nsv459556 22 21331481 21394183 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536289 S 1557 1 0 "" NINDS_34 dgv561n27 22 21342318 21564792 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459581,nsv459557 M 1557 2 0 IGLL5,MIR650 HGDP01191,NINDS_45 dgv562n27 22 21342318 21579040 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459580,nsv459583,nsv459582,nsv459592,nsv459588,nsv459593,nsv459587,nsv459584,nsv459559,nsv459586,nsv459589,nsv459558 M 1557 0 12 IGLL5,MIR650 1780854294_A,1780862094_A,1782681076_A,HGDP00412,HGDP00479,HGDP00682,HGDP00687,HGDP00704,HGDP00963,HGDP00998,HGDP01001,HGDP01023 nsv817960 22 21342709 21353745 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417102 S 112 1 0 "" NA18529 nsv522367 22 21343351 21386462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695147 S 2026 0 1 "" nsv915237 22 21343351 21418026 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580512 S 6533 1 0 "" IS35349 dgv89e19 22 21346858 21420502 CNV Loss Ahn et al 2009 19470904 Sequencing esv8694,esv8784 M 1 0 1 "" SJK esv2103597 22 21350858 21372749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636448 S 1 0 1 "" NA18507 nsv459560 22 21353745 21392890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536293 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01230 nsv915238 22 21353745 21441199 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536990,nssv1584285,nssv1595280,nssv1538494,nssv1553671 M 6533 3 2 "" IS36955,IS40219,MS13050,MS13744,MS20237 dgv563n27 22 21353745 21475634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459561,nsv459579,nsv459578 M 1557 0 3 "" HGDP00804,HGDP00931,HGDP01256 dgv564n27 22 21361579 21401228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459571,nsv459562,nsv459572,nsv459590,nsv459564,nsv459576,nsv459573,nsv459569,nsv459568,nsv459565,nsv459575,nsv459570,nsv459566,nsv459567 M 1557 0 14 "" 1780854097_A,1787431197_A,HGDP00469,HGDP00470,HGDP00473,HGDP00905,HGDP00917,HGDP00926,HGDP00928,HGDP00932,HGDP00933,HGDP00935,HGDP00946,HGDP01418 nsv817961 22 21361579 21401228 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418241,nssv1418242 M 112 0 2 "" NA19144,NA19145 dgv4901n71 22 21361579 21441199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914574,nsv915241,nsv915239,nsv914573,nsv914572,nsv915240 M 6533 0 7 "" MS13288,MS14993,MS20305,MS20830,SP52147,SP52614,SP54979 dgv565n27 22 21361579 21441861 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459591,nsv459577 M 1557 0 2 "" 1780862250_A,HGDP00906 dgv40n64 22 21361579 21554058 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817968,nsv817963 M 112 0 2 MIR650 NA06985,NA18971 nsv517485 22 21361579 21608593 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696378,nssv685423,nssv657562,nssv692945,nssv691850,nssv654960,nssv660375,nssv657165,nssv683305,nssv653391,nssv688960,nssv686339,nssv693291,nssv699967,nssv689313,nssv687940,nssv667752,nssv660788,nssv686227,nssv659017,nssv682910,nssv666399,nssv673969,nssv652668,nssv689267,nssv673968,nssv666052,nssv675672,nssv664316,nssv658019,nssv667916,nssv703259,nssv658623,nssv660739,nssv678849,nssv661301,nssv663305,nssv666903,nssv656545,nssv662768,nssv669688,nssv671191,nssv674385,nssv683211,nssv657324,nssv659434,nssv681165,nssv688050,nssv682452,nssv689801,nssv651782,nssv657101,nssv664925,nssv680000,nssv681061,nssv666480,nssv658639,nssv660691,nssv688797,nssv682025,nssv693574,nssv678928,nssv657420,nssv681720,nssv679050,nssv671060,nssv669384,nssv654008,nssv677754,nssv674439,nssv655428,nssv698690,nssv670484,nssv691023,nssv665670,nssv674806,nssv669974,nssv685401,nssv658676,nssv664808,nssv673312,nssv654572,nssv701738,nssv685098,nssv682135,nssv669512,nssv669753,nssv657966,nssv675447,nssv688267,nssv675887,nssv679200,nssv658501,nssv660901,nssv687499,nssv675770,nssv678812,nssv684300 M 2026 14 84 IGLL5,MIR650 esv2319062 22 21361930 21362373 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987850 S 1 0 1 "" NA18507 esv1007526 22 21362109 21362168 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575672 S 3 0 1 "" HuRef esv1012867 22 21362133 21362193 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727813 S 2 0 1 "" HuRef esv3388 22 21364900 21425105 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25829 S 1 0 1 Single Asian sample YH "" YH nsv433178 22 21370362 21570027 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463059 S 9 0 1 Samples from several populations that are part of the HapMap project. IGLL5,MIR650 NA12878 nsv514964 22 21373312 21579272 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628370 S 1414 0 1 IGLL5,MIR650 dgv90e19 22 21379019 21439659 CNV Loss Ahn et al 2009 19470904 Sequencing esv6262,esv5707 M 1 0 1 "" SJK dgv41n64 22 21384614 21401228 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817967,nsv817964 M 112 0 3 "" NA10830,NA12236,NA18999 dgv566n27 22 21384614 21401228 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459606,nsv459594 M 1557 0 2 "" HGDP01033,HGDP01250 dgv567n27 22 21384614 21441861 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459597,nsv459633,nsv459608,nsv459609,nsv459595 M 1557 0 5 "" 1780862521_A,1780862576_A,1782681277_A,HGDP00565,HGDP00676 nsv817965 22 21384614 21441861 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417610 S 112 0 1 "" NA18978 dgv568n27 22 21384614 21506986 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459610,nsv459628,nsv459598 M 1557 0 3 MIR650 1780862461_A,HGDP00650,HGDP00964 nsv817966 22 21384614 21554058 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418036,nssv1417105,nssv1415877 M 112 1 2 MIR650 NA07348,NA10857,NA11992 dgv569n27 22 21384614 21585869 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459639,nsv459601,nsv459637,nsv459631,nsv459634,nsv459599,nsv459620,nsv459602,nsv459613,nsv459643,nsv459614,nsv459615,nsv459627,nsv459624,nsv459600,nsv459617,nsv459635,nsv459623,nsv459616,nsv459611,nsv459641,nsv459622,nsv459619,nsv459632,nsv459636,nsv459603,nsv459612,nsv459625,nsv459621,nsv459630,nsv459642,nsv459626,nsv459638,nsv459604 M 1557 0 34 IGLL5,MIR650 1780854449_A,1780862408_A,1780862460_A,HGDP00092,HGDP00169,HGDP00319,HGDP00457,HGDP00471,HGDP00521,HGDP00535,HGDP00575,HGDP00679,HGDP00680,HGDP00691,HGDP00723,HGDP00736,HGDP00775,HGDP00779,HGDP00782,HGDP00794,HGDP01015,HGDP01094,HGDP01207,HGDP01218,HGDP01237,HGDP01239,HGDP01332,HGDP01383,HGDP01411,NINDS_239,NINDS_39,NINDS_6,NINDS_62,NINDS_79 nsv459605 22 21386462 21397476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536337 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00428 dgv42n64 22 21392612 21538519 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817972,nsv817969 M 112 3 0 MIR650 NA10863,NA12146,NA12264 dgv43n64 22 21394183 21401228 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817971,nsv817970 M 112 0 2 "" NA07029,NA18992 nsv469839 22 21394877 21570697 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649860 M 265 35 32 Samples from several populations that are part of the HapMap project. IGLL5,MIR650 nsv471597 22 21394878 21570697 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550826,nssv550835,nssv550848,nssv550828,nssv550838,nssv550827,nssv550847,nssv550843,nssv550845,nssv550830,nssv550834,nssv550849,nssv550833,nssv550832,nssv550829,nssv550846,nssv550837,nssv550840,nssv550842,nssv550844,nssv550839,nssv550836,nssv550831,nssv550841 M 48 0 24 IGLL5,MIR650 JK1061,JK776,NA10470,NA10471,NA10472,NA10493,NA10495,NA10496,NA10970,NA11323,NA11523,NA11776,NA15725,NA15726,NA15727,NA15728,NA15730,NA15731,NA15733,NA16689,NA17014,NA17016,NA17051,P86GA nsv834152 22 21400750 21552729 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455890,nssv1455884,nssv1455885,nssv1455886,nssv1455889,nssv1455888,nssv1455887,nssv1455891,nssv1455883 M 95 0 9 MIR650 esv2331082 22 21404688 21429691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522757 S 1 0 1 "" NA18507 esv8896 22 21404866 21429593 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31337 S 1 0 1 "" SJK nsv511638 22 21422749 21443698 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626272 S 1 1 0 "" 1 nsv507928 22 21427683 21433683 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620701 S 4 1 0 "" NA15510 esv5774 22 21430420 21494337 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28215 S 1 0 1 "" SJK esv1006164 22 21433983 21434072 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584857 S 3 0 1 "" HuRef nsv817974 22 21441861 21475634 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416383 S 112 1 0 "" NA19142 nsv817975 22 21441861 21538519 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417167,nssv1415799,nssv1415800,nssv1416119 M 112 4 0 MIR650 NA12812,NA12874,NA12875,NA18547 nsv817976 22 21441861 21554058 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417201,nssv1418123,nssv1418122 M 112 2 1 MIR650 NA10859,NA11882,NA18558 dgv570n27 22 21441861 21581054 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459647,nsv459649,nsv459645,nsv459646,nsv459644,nsv459648 M 1557 0 6 IGLL5,MIR650 HGDP00281,HGDP00534,HGDP00613,HGDP00925,HGDP01250,NINDS_34 nsv817977 22 21475634 21538519 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416018,nssv1416019 M 112 1 1 MIR650 NA12750,NA12751 dgv571n27 22 21475634 21570027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459654,nsv459652,nsv459650,nsv459653 M 1557 0 4 IGLL5,MIR650 1780862226_A,HGDP00903,HGDP01062,HGDP01203 nsv195 22 21481774 21581634 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv195 S 1 0 1 IGLL5,MIR650 NA15510 nsv459655 22 21484058 21592360 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536386 S 1557 0 1 IGLL5,MIR650 1780854318_A esv997030 22 21484527 21565984 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587259 S 3 1 0 IGLL5,MIR650 HuRef dgv733n67 22 21484527 21579016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv828996,nsv828989,nsv828999,nsv828994,nsv828998,nsv828995,nsv828993,nsv828992,nsv828991,nsv828987,nsv828990,nsv828988 M 31 0 25 IGLL5,MIR650 AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18592,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv820655 22 21484527 21579016 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420155 S 1 0 1 IGLL5,MIR650 NA10851 nsv498982 22 21484778 21571802 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585843 S 9 0 1 IGLL5,MIR650 dgv734n67 22 21484838 21487256 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829002,nsv829000,nsv829001 M 31 0 3 "" AK10,NA18566,NA18968 nsv829003 22 21488324 21489051 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438548,nssv1437890,nssv1428777,nssv1440080,nssv1432603,nssv1427989,nssv1423907,nssv1427210,nssv1431218,nssv1426336 M 31 0 10 "" AK10,AK20,AK4,AK6,AK8,NA18537,NA18949,NA18951,NA18968,NA18999 nsv829004 22 21488324 21489433 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439411 S 31 0 1 "" NA18973 esv33722 22 21488714 21568288 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101488,essv98667,essv97605,essv101263,essv93947,essv96838,essv101011,essv95130,essv98318,essv94693,essv93999,essv101324,essv94435,essv96961,essv97897,essv95573,essv95450,essv93153,essv95235,essv97363,essv101723,essv95767,essv94638,essv99112,essv92973,essv92759,essv93730,essv96150,essv96706,essv97090,essv95987,essv93469,essv93287,essv99644,essv95022,essv92588,essv96482,essv99304,essv97765,essv100230,essv100493,essv100400,essv98390,essv96374,essv94188 M 51 45 0 IGLL5,MIR650 21603,21606,21616,21618,21634,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22127,22128,22170,22217,22231,22233,22261,22275,22278,22286,22298,22300,22352,22371,22394 nsv829005 22 21489863 21491107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423073 S 31 0 1 "" NA18552 nsv829006 22 21490512 21491107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436291,nssv1439412,nssv1432604,nssv1428778,nssv1431042,nssv1434828,nssv1437891,nssv1427991,nssv1431229,nssv1423909,nssv1438549,nssv1426337,nssv1440081 M 31 0 13 "" AK10,AK16,AK20,AK4,AK8,NA18537,NA18566,NA18570,NA18949,NA18951,NA18968,NA18973,NA18999 nsv829007 22 21491765 21492361 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434830,nssv1427211 M 31 1 1 "" AK6,NA18570 nsv829009 22 21491765 21492538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431770 S 31 0 1 "" AK18 nsv829010 22 21491861 21495132 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423075 S 31 0 1 "" NA18552 nsv829011 22 21493082 21495132 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437892,nssv1435613 M 31 0 2 "" NA18942,NA18949 nsv829012 22 21494330 21495768 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433379 S 31 0 1 MIR650 NA18972 nsv829013 22 21494419 21495132 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434831 S 31 0 1 "" NA18570 nsv829014 22 21495132 21495605 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437188 S 31 0 1 MIR650 NA18542 dgv735n67 22 21497734 21506433 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829016,nsv829015,nsv829017 M 31 0 10 "" AK10,AK18,AK20,NA18552,NA18566,NA18570,NA18949,NA18951,NA18968,NA18999 nsv829018 22 21497940 21498718 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431772 S 31 1 0 "" AK18 nsv829020 22 21498209 21498968 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431251,nssv1439413,nssv1423911 M 31 3 0 "" NA18968,NA18973,NA18999 nsv829021 22 21500802 21504519 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425461 S 31 0 1 "" AK2 esv267590 22 21500849 21501197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516728,essv2514254,essv2517871,essv2515822,essv2518196 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12874,NA12878,NA18969,NA19240 esv272414 22 21500849 21501197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581397,essv2581119 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv817978 22 21502190 21554058 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416288,nssv1416287 M 112 1 1 "" NA10851,NA12056 dgv572n27 22 21502190 21570027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459657,nsv459665,nsv459656,nsv459660,nsv459658,nsv459666,nsv459661,nsv459667,nsv459664,nsv459659 M 1557 0 10 IGLL5 1780854288_A,1780862461_A,HGDP00189,HGDP00234,HGDP00474,HGDP00608,HGDP00614,HGDP00650,HGDP00897,HGDP00938 nsv834153 22 21502520 21679640 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455892,nssv1455894,nssv1455893,nssv1455895,nssv1455896 M 95 0 5 IGLL5 nsv829022 22 21507296 21507761 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437189 S 31 0 1 "" NA18542 dgv736n67 22 21510312 21516590 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829023,nsv829024 M 31 0 10 "" AK2,AK4,AK6,AK8,NA18537,NA18566,NA18949,NA18968,NA18973,NA18999 nsv829025 22 21511238 21520533 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432606 S 31 0 1 "" AK20 nsv829026 22 21513831 21515875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433380 S 31 0 1 "" NA18972 nsv829027 22 21520533 21521488 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437190 S 31 0 1 "" NA18542 dgv737n67 22 21524244 21525221 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829028,nsv829029 M 31 0 6 "" AK10,AK8,NA18537,NA18949,NA18973,NA18999 dgv738n67 22 21525300 21526019 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829034,nsv829032,nsv829033 M 31 0 10 "" AK10,AK12,AK2,AK20,AK4,AK6,NA18552,NA18566,NA18973,NA18999 nsv829035 22 21529276 21529948 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434833 S 31 0 1 "" NA18570 nsv829036 22 21529445 21529888 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423079 S 31 0 1 "" NA18552 dgv739n67 22 21530226 21538876 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829041,nsv829040,nsv829043,nsv829039,nsv829037 M 31 0 7 "" AK20,AK6,NA18552,NA18566,NA18570,NA18949,NA18968 nsv829038 22 21530509 21531449 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426340,nssv1428783 M 31 0 2 "" AK10,AK4 nsv433338 22 21531896 21559190 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463219 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv829044 22 21537573 21538019 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428784 S 31 0 1 "" AK10 nsv829045 22 21538425 21538876 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428786,nssv1437898,nssv1427994 M 31 0 3 "" AK10,AK8,NA18949 nsv459668 22 21538519 21554835 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536398 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00806 dgv573n27 22 21538519 21570027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459671,nsv459672,nsv459670,nsv459669 M 1557 0 4 IGLL5 HGDP00472,HGDP00591,HGDP00611,HGDP01099 nsv508728 22 21539746 21634951 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619875 S 4 1 0 IGLL5 NA10860 nsv829046 22 21539891 21540432 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435614 S 31 0 1 "" NA18942 dgv740n67 22 21540546 21542807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829047,nsv829049 M 31 0 8 "" AK10,AK4,NA18537,NA18552,NA18949,NA18951,NA18968,NA18999 nsv829048 22 21540877 21542315 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432610 S 31 0 1 "" AK20 nsv829050 22 21542090 21542807 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431773 S 31 1 0 "" AK18 nsv829051 22 21542143 21542807 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434132 S 31 0 1 "" NA18526 nsv829052 22 21543786 21544306 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437191 S 31 0 1 "" NA18542 nsv829054 22 21545835 21550041 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432611 S 31 0 1 "" AK20 esv34158 22 21546762 21829513 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GNAZ,IGLL5,RAB36,RTDR1 dgv741n67 22 21550358 21551181 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829055,nsv829056 M 31 0 2 "" NA18526,NA18552 nsv829057 22 21552105 21552694 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428788 S 31 0 1 "" AK10 nsv829058 22 21552695 21568521 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437192 S 31 0 1 IGLL5 NA18542 nsv829059 22 21553674 21576911 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435615 S 31 0 1 IGLL5 NA18942 dgv742n67 22 21553686 21554450 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829060,nsv829061 M 31 0 2 "" NA18566,NA18949 nsv829062 22 21553913 21554450 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427216,nssv1426343 M 31 0 2 "" AK4,AK6 nsv459673 22 21554058 21564792 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536403 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGLL5 HGDP01238 dgv574n27 22 21554058 21570027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459676,nsv459675 M 1557 0 2 IGLL5 HGDP00653,HGDP00721 nsv829063 22 21555307 21556843 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432612 S 31 0 1 "" AK20 nsv829065 22 21556843 21557769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424702 S 31 0 1 "" NA18582 dgv743n67 22 21557770 21559168 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829066,nsv829068 M 31 0 3 "" AK20,NA18542,NA18949 nsv829067 22 21558173 21558716 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431774 S 31 0 1 "" AK18 nsv820258 22 21559192 21560914 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419315 S 2 1 0 IGLL5 AK1 nsv829069 22 21560046 21561166 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424703 S 31 0 1 IGLL5 NA18582 nsv819772 22 21560903 21579056 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418674 S 2 1 0 IGLL5 AK1 dgv744n67 22 21561167 21564972 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829070,nsv829072,nsv829073,nsv829071 M 31 0 7 IGLL5 AK20,NA18552,NA18566,NA18570,NA18949,NA18951,NA18968 dgv745n67 22 21562543 21564683 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829074,nsv829076,nsv829077 M 31 0 4 IGLL5 AK2,AK20,AK6,NA18973 nsv3572 22 21565638 21622418 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11051,nssv2362,nssv10318,nssv4577,nssv6976 M 9 5 0 IGLL5 NA12156,NA12878,NA15510,NA18555,NA18956 nsv829078 22 21565947 21567231 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433381 S 31 0 1 IGLL5 NA18972 nsv829079 22 21565984 21566678 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424704 S 31 0 1 IGLL5 NA18582 nsv829080 22 21567954 21579016 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433382 S 31 1 0 IGLL5 NA18972 nsv829081 22 21568080 21568521 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433383 S 31 0 1 "" NA18972 nsv829082 22 21568521 21568963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428789,nssv1440086,nssv1431307 M 31 0 3 "" AK10,NA18537,NA18968 dgv746n67 22 21568521 21576911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829083,nsv829087,nsv829085 M 31 5 0 "" AK2,AK4,NA18949,NA18951,NA18973 nsv829084 22 21568964 21570218 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433384 S 31 0 1 "" NA18972 dgv101e180 22 21571610 21579016 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990068,esv996158 M 3 0 1 "" HuRef nsv829088 22 21573444 21575734 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423582 S 31 1 0 "" NA18547 nsv829089 22 21573444 21593541 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434134 S 31 0 1 "" NA18526 nsv829090 22 21574187 21576911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422326 S 31 1 0 "" NA18997 nsv499101 22 21574892 21593630 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585621 S 9 1 0 "" nsv196 22 21576000 21600374 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv196 S 1 1 0 "" NA15510 nsv516045 22 21693352 21694370 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687450,nssv665874 M 2026 2 0 "" dgv4902n71 22 21729743 21799918 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914576,nsv914575 M 6533 0 2 GNAZ,RTDR1 MS10311,MS16153 esv24055 22 21742337 21743200 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21337 S 451 0 1 GNAZ,RTDR1 NA12489 dgv19e24 22 21761437 21762004 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750592,esv2750722,esv2750763,esv2750514,esv2750610,esv2750479,esv2750493,esv2750520,esv2750586,esv2750595,esv2750618,esv2750628,esv2750659,esv2750660,esv2750667,esv2750746,esv2750747,esv2750772 M 51 0 18 GNAZ,RTDR1 21603,21616,21618,21693,21721,21791,21802,21805,21872,21879,21909,21932,21939,22075,22127,22217,22233,22286 nsv914577 22 21769530 21808695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537184 S 6533 0 1 GNAZ,RTDR1 MS13095 nsv3573 22 21771543 21815820 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2363 S 9 0 1 GNAZ,RTDR1 NA18555 nsv525485 22 21779955 21784722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701614 S 2026 0 1 GNAZ,RTDR1 esv33363 22 21785378 21785690 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101460,essv95221,essv97965,essv95514,essv93108,essv95286,essv97441,essv101677,essv94633,essv99000,essv93416,essv96552,essv97681,essv100277,essv100577,essv98484 M 51 3 13 GNAZ,RTDR1 21603,21721,21837,21847,21863,21872,21879,21909,21932,21938,22128,22261,22278,22286,22298,22352 nsv511644 22 21799918 21809663 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626279 S 1 0 1 RTDR1 1 dgv747n67 22 21807912 21809406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829092,nsv829091 M 31 0 2 RTDR1 AK6,NA18942 nsv819622 22 21807925 21809831 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419357 S 2 0 1 RTDR1 AK1 nsv512647 22 21808273 21810008 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625263 S 1 0 1 RTDR1 1 esv999926 22 21808398 21809170 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586940 S 3 1 0 RTDR1 HuRef dgv748n67 22 21808398 21809406 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829094,nsv829093,nsv829095 M 31 0 15 RTDR1 AK14,AK2,AK4,AK8,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18949,NA18968,NA18973,NA18997 esv29480 22 21808587 21809213 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17968 S 451 0 2 RTDR1 NA07045,NA12044 esv33083 22 21808616 21809228 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101113,essv101041,essv95234,essv94699,essv101384,essv97912,essv95736,essv95485,essv93065,essv95290,essv97330,essv101703,essv94576,essv96725,essv96016,essv99666,essv94934,essv92629,essv100131,essv98375 M 51 15 5 RTDR1 21618,21693,21721,21791,21805,21837,21841,21847,21863,21872,21879,21909,21932,22011,22127,22217,22231,22233,22286,22352 nsv9876 22 21893331 22253059 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27775,nssv28116,nssv25773,nssv26362,nssv25191 M 31 3 2 Samples from several populations that are part of the HapMap project. BCR,CES5AP1,FBXW4P1,IGLL1,ZDHHC8P1 NA10839,NA10863,NA18537,NA18860,NA19132 dgv749n67 22 21906812 21907973 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829096,nsv829098 M 31 0 3 BCR AK14,NA18537,NA18947 esv29702 22 21906901 21907796 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13803 S 451 0 2 BCR NA11931,NA11993 esv994062 22 21940584 21941325 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587274 S 3 1 0 BCR HuRef esv22663 22 21979375 22002982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20013,esv17028,esv14387 M 451 8 0 BCR NA06985,NA12004,NA18508,NA18858,NA19099,NA19129,NA19147,NA19190 nsv914578 22 21980987 22038020 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548350 S 6533 1 0 BCR,CES5AP1 MS17809 dgv4903n71 22 21980987 22325056 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914579,nsv914581 M 6533 2 0 BCR,C22orf43,CES5AP1,GUSBP11,IGLL1,ZDHHC8P1 MS24210,SP80994 nsv526567 22 22020325 23326630 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702883 S 2026 1 0 ADORA2A,C22orf13,C22orf15,C22orf36,C22orf43,C22orf45,CABIN1,CES5AP1,CHCHD10,DDT,DDTL,DERL3,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,GUSBP11,IGLL1,LOC284889,LOC391322,MIF,MMP11,POM121L9P,RGL4,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,UPB1,VPREB3,ZDHHC8P1,ZNF70 dgv4904n71 22 22050420 22087964 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914583,nsv914582,nsv914580 M 6533 0 4 CES5AP1,ZDHHC8P1 SP54725,SP54956,SP54988,SP55021 nsv829099 22 22056903 22077505 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430294 S 31 1 0 ZDHHC8P1 AK14 nsv522451 22 22059698 22072105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705812 S 2026 0 1 ZDHHC8P1 nsv914584 22 22059698 22104625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559591 S 6533 0 1 ZDHHC8P1 MS24046 nsv469702 22 22073640 22220756 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649635 M 265 0 0 Samples from several populations that are part of the HapMap project. ZDHHC8P1 nsv834154 22 22078703 22232492 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455899,nssv1455900,nssv1455897,nssv1455898 M 95 4 0 "" esv29369 22 22101503 22104165 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21276 S 451 0 2 "" NA18502,NA18508 nsv821024 22 22101503 22104165 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420156 S 1 1 0 "" NA10851 nsv528171 22 22111075 22182494 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704720 S 2026 0 1 "" nsv914585 22 22123801 22179044 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553889 S 6533 1 0 "" MS20359 esv26164 22 22133474 22159377 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15382 S 451 7 1 "" NA06985,NA12489,NA18517,NA18858,NA19114,NA19129,NA19147,NA19190 esv33260 22 22138362 22148276 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96081 S 51 1 0 "" 22007 nsv514965 22 22138586 22158096 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627206 S 1414 0 0 "" nsv829100 22 22141957 22143098 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439421 S 31 0 1 "" NA18973 esv996920 22 22153544 22154741 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586992 S 3 0 1 "" HuRef nsv508729 22 22160610 22218526 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619876,nssv621148 M 4 2 0 "" NA10860,NA15510 nsv511073 22 22160610 22256951 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624369 S 4 0 0 IGLL1 NA18994 dgv4905n71 22 22168940 22255335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914588,nsv914586,nsv914587 M 6533 0 3 IGLL1 IS37646,MS10311,MS17208 nsv471186 22 22173675 22252983 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545511 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGLL1 HGDP00546 esv2290551 22 22174763 22175262 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927141 S 1 0 1 "" NA18507 nsv3574 22 22175795 22192518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9608,nssv2364,nssv1637,nssv9372 M 9 4 0 "" NA18507,NA18517,NA18555,NA19240 esv1001131 22 22176708 22182592 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565693 S 3 1 0 "" HuRef esv1361282 22 22182619 22182619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203618 S 2 1 0 "" HuRef esv270851 22 22202644 22202994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516775,essv2514068,essv2514896,essv2515311,essv2514945,essv2515877,essv2514338,essv2517648,essv2517263,essv2513713 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA12043,NA12234,NA12249,NA12812,NA12873,NA12874,NA12878,NA18970 esv274667 22 22202644 22202994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581424 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv914589 22 22204416 22282627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577610 S 6533 1 0 C22orf43,IGLL1 IS34494 esv27623 22 22221400 22225561 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21320 S 451 1 1 "" NA12044,NA19099 nsv459677 22 22225625 22285765 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536407 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C22orf43,IGLL1 HGDP01155 nsv820874 22 22231256 22232624 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420157 S 1 0 1 "" NA10851 esv25671 22 22231256 22233578 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12121,esv14549 M 451 5 0 "" NA07037,NA11993,NA12749,NA19129,NA19240 esv2422093 22 22231529 22235462 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5148206,essv5144868,essv5044654,essv5100918,essv5057859,essv5110942,essv5128309,essv5113657,essv5069661,essv5146835,essv5047606,essv5148514,essv5143979,essv5049506,essv5061113,essv5138714,essv5092566,essv5085951,essv5002988,essv5123766,essv5096531,essv5029911,essv5140831,essv5160305,essv5110670,essv5063563,essv5114299,essv5146870,essv5046149,essv5091622,essv5071149,essv5077915,essv5076586,essv5051738,essv5139117,essv5113154,essv5068055,essv5017865,essv5069241,essv5111656,essv5137980,essv5095021,essv5079854,essv5073037,essv5104918,essv5137299,essv5065392,essv5102259,essv5028832,essv5122637,essv5013583,essv5012174,essv5091128,essv5099017,essv5064302,essv5066275,essv5148645,essv5028849,essv5094173,essv5068803,essv5132013,essv5040383,essv5089298,essv5044043,essv5093660,essv5157971,essv5144656,essv5101161,essv5131978,essv5054043,essv5058839,essv5065017,essv5056474,essv5013500,essv5096513,essv5156603,essv5135682,essv5060833,essv5139852,essv5154640,essv5073990,essv5058070,essv5116375,essv5059730,essv5050754,essv5065988,essv5038108,essv5127177,essv5016626,essv5139393,essv5011163,essv5148663,essv5037293,essv5011857,essv5014271,essv5038589,essv5068213,essv5082740,essv5146274,essv5133083,essv5041040,essv5056065,essv5061587,essv5099954,essv5132860,essv5017741,essv5140747,essv5015308,essv5099174,essv5031311,essv5049115,essv5074661,essv5074920,essv5037139,essv5128086,essv5027706,essv5127257,essv5021160,essv5113561,essv5064393,essv5025280,essv5017576,essv5058154,essv5027481,essv5119825,essv5094538,essv5128043,essv5079611,essv5002725,essv5033934,essv5020074,essv5060561,essv5116176,essv5107412,essv5138230,essv5134257,essv5094937,essv5013958,essv5117355,essv5043656,essv5022070,essv5069648,essv5124869,essv5052446,essv5005699,essv5081514,essv5031072,essv5059941,essv5125981,essv5118589,essv5131710,essv5149647,essv5126528,essv5085088,essv5111324,essv5066625,essv5002333,essv5068191,essv5141614,essv5035146,essv5019448,essv5033042,essv5136186,essv5068946,essv5034539,essv5081535,essv5045886,essv5045749,essv5002009,essv5127592,essv5144970,essv5011410,essv5041197,essv5054240,essv5005552,essv5060276,essv5075028,essv5125534,essv5103806,essv5066667,essv5049850,essv5065910,essv5100717,essv5027294,essv5137517,essv5035491,essv5106669,essv5159514,essv5079734,essv5087526,essv5140067,essv5039135,essv5006879,essv5107889,essv5034688,essv5142827,essv5072930,essv5125194,essv5046161,essv5125335,essv5138152,essv5077958,essv5118616,essv5059589,essv5157632,essv5145149,essv5089010,essv5117894,essv5025490,essv5117656,essv5124253,essv5044680,essv5126577,essv5101433,essv5083758,essv5097701,essv5026769,essv5079211,essv5063141,essv5111635,essv5159973,essv5112565,essv5113146,essv5009258,essv5033409,essv5010575,essv5099259,essv5070924,essv5087705,essv5007387,essv5015256,essv5082268,essv5043816,essv5102929,essv5013416,essv5083517,essv5140450,essv5019207,essv5127311,essv5124365,essv5036738,essv5050815,essv5072915,essv5010721,essv5133484,essv5084279,essv5090119,essv5112204,essv5140993,essv5124957,essv5123757,essv5077125,essv5102374,essv5030166,essv5002373,essv5116612,essv5059825,essv5107813,essv5138954,essv5085277,essv5061846,essv5103582,essv5076083,essv5137012,essv5135621,essv5156900,essv5110169,essv5042595,essv5032852,essv5099274,essv5131842,essv5016029,essv5155443,essv5155841,essv5123923,essv5010157,essv5110761,essv5125558,essv5044974,essv5074019,essv5061368,essv5068904,essv5129830,essv5106238,essv5118154,essv5078301,essv5044278,essv5066669,essv5094119,essv5077927,essv5047098,essv5137929,essv5145101,essv5108000,essv5126432,essv5023901,essv5026164,essv5088693,essv5118418,essv5006593,essv5144461,essv5044085,essv5052455,essv5073570,essv5089421,essv5080827,essv5114379,essv5005362,essv5053116,essv5125789,essv5131360,essv5135510,essv5129251,essv5126377,essv5059578,essv5044153,essv5146859,essv5056843,essv5017375,essv5036949,essv5062904,essv5024182,essv5152695,essv5123845,essv5085841,essv5061397,essv5156013,essv5049968,essv5046113,essv5098870,essv5156946,essv5140294,essv5108322,essv5018471,essv5118878,essv5038419,essv5009323,essv5130779,essv5141669,essv5154895,essv5042541,essv5063094,essv5108833,essv5080501,essv5064609,essv5007648,essv5107948,essv5068711,essv5022932,essv5038566,essv5012365,essv5032398,essv5123647,essv5113350,essv5137941,essv5104074,essv5108676,essv5149937,essv5029825,essv5021636,essv5043511,essv5088975,essv5126785,essv5135339,essv5128981,essv5154851,essv5041991,essv5052715,essv5061534,essv5124726,essv5151063,essv5066847,essv5092815,essv5022192,essv5097922,essv5038976,essv5031602,essv5086914,essv5142252,essv5088837,essv5143308,essv5077641,essv5070802,essv5010520,essv5011396,essv5040846,essv5033619,essv5125337,essv5155563,essv5122715,essv5067941,essv5040603,essv5053726,essv5037770,essv5107432,essv5070612,essv5014113,essv5159810,essv5092358,essv5139177,essv5106626,essv5125570,essv5078332,essv5109541,essv5070203,essv5032340,essv5117342,essv5056357,essv5043096,essv5015367,essv5069780,essv5041892,essv5157450,essv5089237,essv5048001,essv5041777,essv5006421,essv5112054,essv5095744,essv5157860,essv5104954,essv5054155,essv5110934,essv5100647,essv5136048,essv5028631,essv5116662,essv5107511,essv5039163,essv5095520,essv5006710,essv5089617,essv5098645,essv5143658,essv5074530,essv5095371,essv5115654,essv5112150,essv5039014,essv5093936,essv5048179,essv5148043,essv5154720 M 1184 0 443 "" NA06984,NA06993,NA06994,NA07014,NA07051,NA07345,NA07348,NA10835,NA10839,NA10846,NA10847,NA10850,NA10853,NA10861,NA11832,NA11843,NA11994,NA12005,NA12043,NA12056,NA12239,NA12248,NA12283,NA12287,NA12342,NA12344,NA12347,NA12348,NA12413,NA12708,NA12718,NA12753,NA12767,NA12778,NA12801,NA12802,NA12812,NA12815,NA12817,NA12842,NA12864,NA12873,NA12877,NA12889,NA12890,NA17962,NA17966,NA17968,NA17970,NA17972,NA17974,NA17977,NA17979,NA17980,NA17981,NA17989,NA17996,NA17997,NA17999,NA18102,NA18106,NA18107,NA18108,NA18112,NA18114,NA18117,NA18118,NA18120,NA18124,NA18127,NA18128,NA18129,NA18131,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18149,NA18150,NA18152,NA18155,NA18156,NA18157,NA18158,NA18159,NA18162,NA18166,NA18485,NA18503,NA18505,NA18509,NA18510,NA18515,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18597,NA18602,NA18603,NA18611,NA18613,NA18616,NA18617,NA18622,NA18623,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18637,NA18638,NA18640,NA18641,NA18643,NA18674,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18747,NA18748,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18868,NA18869,NA18870,NA18909,NA18911,NA18916,NA18924,NA18930,NA18934,NA18935,NA18939,NA18940,NA18943,NA18947,NA18948,NA18951,NA18952,NA18953,NA18954,NA18955,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18969,NA18970,NA18972,NA18975,NA18976,NA18978,NA18979,NA18980,NA18990,NA18993,NA18995,NA18997,NA19000,NA19001,NA19005,NA19009,NA19010,NA19046,NA19054,NA19055,NA19059,NA19060,NA19064,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19083,NA19085,NA19086,NA19088,NA19094,NA19095,NA19097,NA19113,NA19118,NA19119,NA19120,NA19137,NA19150,NA19160,NA19161,NA19171,NA19173,NA19174,NA19176,NA19181,NA19183,NA19184,NA19193,NA19197,NA19199,NA19206,NA19208,NA19209,NA19214,NA19215,NA19236,NA19237,NA19247,NA19249,NA19257,NA19258,NA19307,NA19310,NA19321,NA19324,NA19359,NA19374,NA19375,NA19379,NA19380,NA19382,NA19383,NA19391,NA19394,NA19398,NA19404,NA19428,NA19435,NA19437,NA19438,NA19440,NA19443,NA19446,NA19452,NA19456,NA19462,NA19463,NA19466,NA19467,NA19470,NA19471,NA19474,NA19649,NA19652,NA19654,NA19656,NA19661,NA19663,NA19665,NA19669,NA19676,NA19677,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19704,NA19705,NA19708,NA19722,NA19771,NA19772,NA19794,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19919,NA19921,NA20276,NA20277,NA20282,NA20289,NA20290,NA20291,NA20295,NA20322,NA20333,NA20340,NA20346,NA20347,NA20356,NA20357,NA20358,NA20359,NA20363,NA20364,NA20516,NA20518,NA20522,NA20527,NA20531,NA20542,NA20544,NA20588,NA20589,NA20753,NA20761,NA20771,NA20773,NA20774,NA20775,NA20785,NA20792,NA20795,NA20797,NA20803,NA20812,NA20828,NA20845,NA20852,NA20853,NA20861,NA20874,NA20879,NA20883,NA20889,NA20898,NA21094,NA21097,NA21108,NA21141,NA21143,NA21297,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21320,NA21344,NA21352,NA21353,NA21356,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21378,NA21385,NA21386,NA21390,NA21399,NA21401,NA21402,NA21404,NA21405,NA21414,NA21415,NA21435,NA21436,NA21441,NA21442,NA21448,NA21451,NA21453,NA21454,NA21455,NA21475,NA21477,NA21479,NA21480,NA21489,NA21490,NA21491,NA21510,NA21523,NA21524,NA21525,NA21528,NA21582,NA21587,NA21596,NA21599,NA21601,NA21611,NA21616,NA21619,NA21620,NA21647,NA21683,NA21693,NA21716,NA21717,NA21718,NA21741,NA21768,NA21825 nsv914590 22 22242723 22310868 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516930,nssv1594836 M 6533 1 1 C22orf43,GUSBP11,IGLL1 IS40038,SP56976 nsv914591 22 22242723 22325056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520904 S 6533 0 1 C22orf43,GUSBP11,IGLL1 SP51297 nsv436353 22 22245900 22313362 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465764 S 2 0 1 Samples from several populations that are part of the HapMap project. C22orf43,GUSBP11,IGLL1 NA18505 esv23191 22 22247409 22311770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16666 S 451 0 1 C22orf43,GUSBP11,IGLL1 NA18505 nsv520582 22 22251427 22310868 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681940,nssv672815 M 2026 2 0 C22orf43,GUSBP11,IGLL1 nsv914592 22 22251427 22313422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501007 S 6533 1 0 C22orf43,GUSBP11,IGLL1 SP51022 nsv471187 22 22251427 22321419 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545514,nssv545512,nssv545513 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C22orf43,GUSBP11,IGLL1 HGDP00473,HGDP01089,HGDP01091 nsv459682 22 22251427 22325056 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536408 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C22orf43,GUSBP11,IGLL1 HGDP00473 nsv437850 22 22263452 22290187 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467731 S 60 0 1 Samples from several populations that are part of the HapMap project. C22orf43 NA18503 nsv9877 22 22263689 22280835 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28727 S 31 1 0 Samples from several populations that are part of the HapMap project. C22orf43 NA19221 nsv438339 22 22275369 22277352 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470930,nssv470928 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505 nsv482072 22 22280640 22304487 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558433 S 1 1 0 C22orf43 KB1 nsv819745 22 22285450 22286887 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419260 S 2 0 1 C22orf43 AK1 nsv191262 22 22291744 22295976 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209840 M 24 C22orf43 esv1986399 22 22294681 22295093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743559 S 1 0 1 C22orf43 NA18507 esv1552056 22 22294856 22294914 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352831 S 2 0 1 C22orf43 HuRef esv2154593 22 22295943 22296263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864490 S 1 0 1 C22orf43 NA18507 nsv526278 22 22309342 22325213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702557 S 2026 0 1 GUSBP11 nsv914593 22 22310868 22368847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573702 S 6533 0 1 GUSBP11,RGL4 IS33493 dgv4906n71 22 22330993 22698161 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914596,nsv914594 M 6533 2 0 C22orf15,CHCHD10,DDT,DDTL,DERL3,GSTT2,GSTT2B,GSTTP1,GUSBP11,LOC284889,MIF,MMP11,RGL4,SLC2A11,SMARCB1,VPREB3,ZNF70 MS15458,SP80994 nsv914595 22 22332145 22407117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559901 S 6533 1 0 GUSBP11,RGL4 MS24210 esv1005421 22 22351751 22359707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563810 S 3 0 1 GUSBP11 HuRef nsv512648 22 22355218 22357586 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625264 S 1 0 1 GUSBP11 1 dgv750n67 22 22355576 22358416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829101,nsv829102 M 31 0 15 GUSBP11 AK12,AK16,AK2,AK20,AK4,AK6,AK8,NA18537,NA18942,NA18949,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821562 22 22355576 22358416 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420158 S 1 0 1 GUSBP11 NA10851 nsv819573 22 22355598 22357450 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419343 S 2 1 0 GUSBP11 AK1 esv29866 22 22355609 22357663 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21332 S 451 31 0 GUSBP11 NA06985,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1003785 22 22355617 22357537 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566128 S 3 0 1 GUSBP11 HuRef nsv511649 22 22355751 22359646 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626284 S 1 0 1 GUSBP11 1 esv271539 22 22356372 22356639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503332,essv2500644,essv2500139 M 157 3 0 Samples from several populations that are part of the HapMap project. GUSBP11 NA18542,NA18571,NA18573 esv2751941 22 22362015 22380471 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982671,essv6982672 M 771 1 0 GUSBP11,RGL4 BEC_578 nsv3575 22 22379482 22390630 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4578 S 9 1 0 GUSBP11 NA12878 nsv914597 22 22424836 22466542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510443 S 6533 0 1 C22orf15,CHCHD10,MMP11,SMARCB1,VPREB3 SP54956 nsv829103 22 22466728 22467399 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423087 S 31 1 0 SMARCB1 NA18552 nsv914598 22 22489620 22522081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592506 S 6533 0 1 DERL3,SMARCB1 IS39233 nsv914599 22 22489620 23355810 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559902 S 6533 1 0 ADORA2A,C22orf13,C22orf36,C22orf45,CABIN1,DDT,DDTL,DERL3,GGT1,GGT5,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC284889,LOC391322,MIF,POM121L9P,SLC2A11,SMARCB1,SNRPD3,SPECC1L,SUSD2,UPB1 MS24210 nsv511075 22 22492464 22773517 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624370,nssv621661,nssv622437 M 4 0 0 CABIN1,DDT,DDTL,DERL3,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC284889,LOC391322,MIF,SLC2A11,SMARCB1 NA10860,NA15510,NA18994 dgv4907n71 22 22493081 22533746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914601,nsv914600 M 6533 0 2 DERL3,SLC2A11,SMARCB1 MS16153,MS18276 dgv4908n71 22 22504510 22533746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914602,nsv914603 M 6533 0 7 DERL3,SLC2A11,SMARCB1 IS32322,IS32737,IS32841,IS33504,IS38176,IS40230,MS10769 nsv834155 22 22510163 22789741 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455901,nssv1455902 M 95 1 1 CABIN1,DDT,DDTL,DERL3,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC284889,LOC391322,MIF,SLC2A11 esv2490767 22 22524942 22528865 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231413 S 1 0 1 "" NA18507 nsv512649 22 22525639 22528507 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625267 S 1 0 1 "" 1 esv1010693 22 22525821 22530248 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564841 S 3 0 1 SLC2A11 HuRef esv2193062 22 22525863 22528711 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905971 S 1 0 1 "" NA18507 esv7311 22 22525940 22528517 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29752 S 1 0 1 "" SJK esv1741425 22 22525941 22528513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352049 S 2 0 1 "" HuRef nsv3577 22 22532037 22567372 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1638 S 9 1 0 LOC284889,MIF,SLC2A11 NA19240 nsv914604 22 22542826 22578761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592507 S 6533 0 1 LOC284889,MIF,SLC2A11 IS39233 nsv914605 22 22567862 22757878 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580521 S 6533 1 0 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC284889,LOC391322 IS35354 nsv820263 22 22578118 22578288 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418970 S 2 0 1 "" AK1 dgv1390e1 22 22587337 22733208 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12912,esv1027,essv5959,essv11374,essv1646 M 271 0 0 DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 NA18577,NA18961,NA19094,NA19127 nsv191455 22 22588964 22589943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210033 M 24 "" nsv3578 22 22592096 22760118 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2367,nssv2366,nssv10320,nssv9609,nssv9610,nssv4579,nssv1640,nssv9373,nssv6977,nssv10319,nssv2365,nssv11053 M 9 0 8 CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19240 nsv197 22 22595462 22666042 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv197 S 1 0 1 DDT,DDTL,GSTT2,GSTT2B NA15510 dgv4909n71 22 22595659 22735492 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914609,nsv914606 M 6533 2 0 DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 MS11032,SP57575 nsv469844 22 22596242 22829915 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649865 M 265 0 0 Samples from several populations that are part of the HapMap project. CABIN1,DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 esv274592 22 22600379 22600789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580035 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv271979 22 22600424 22600509 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514150,essv2516180,essv2515205,essv2513648 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12043,NA12891,NA19238 dgv4910n71 22 22600777 22728586 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914607,nsv914608 M 6533 5 111 DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 IS36517,IS38403,IS40230,MS10126,MS10166,MS10169,MS10645,MS10695,MS11635,MS11923,MS12045,MS12432,MS12782,MS12905,MS13131,MS13169,MS13211,MS13363,MS13759,MS13808,MS14222,MS14309,MS14591,MS14719,MS14761,MS14842,MS15078,MS15168,MS15389,MS15748,MS15753,MS15779,MS15835,MS15905,MS16049,MS16160,MS16559,MS16707,MS17028,MS17056,MS17093,MS17371,MS17580,MS17599,MS18003,MS18124,MS18752,MS19039,MS19304,MS19576,MS19584,MS19634,MS19669,MS19683,MS19771,MS20117,MS20239,MS20503,MS21225,MS21442,MS21674,MS22321,MS22608,MS22764,MS23495,MS23780,MS24011,MS24031,MS24051,MS24423,MS24461,MS24476,MS24600,MS24747,MS24769,MS24909,MS24935,MS25683,MS25864,MS25943,MS25963,MS25980,SP50624,SP50755,SP51170,SP51179,SP51380,SP52220,SP52313,SP52612,SP52731,SP52986,SP53332,SP53569,SP53732,SP54087,SP54191,SP54249,SP54275,SP54921,SP55007,SP55179,SP55526,SP56348,SP56757,SP56773,SP56797,SP80943,SP81106,SP81109,SP81158,SP81202,SP81276,SP81333,SP81354,SP81399 nsv511635 22 22601705 22608043 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626269 S 1 0 1 "" 1 nsv914610 22 22603285 22666327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499919 S 6533 1 0 DDT,DDTL,GSTT2,GSTT2B SP50017 dgv4911n71 22 22603285 22713954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914613,nsv914611,nsv914612 M 6533 0 4 DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,LOC391322 MS23330,MS25275,SP51309,SP53036 nsv436348 22 22603584 22641689 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465766 S 2 0 1 Samples from several populations that are part of the HapMap project. DDTL,GSTT2,GSTT2B NA18505 esv999560 22 22603801 22641930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563988 S 3 0 1 DDTL,GSTT2,GSTT2B HuRef esv2430597 22 22603871 22724028 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281246 S 1 0 1 DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 NA18507 esv22760 22 22603873 22734715 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10879,esv14090,esv20877,esv13910,esv14719,esv18672,esv19015,esv10374,esv19609,esv11701,esv19480,esv20976,esv16921,esv15383,esv16598,esv10065 M 451 29 30 DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2593346 22 22603974 22642416 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227755 S 1 0 1 DDTL,GSTT2,GSTT2B NA18507 nsv512650 22 22604105 22641361 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625268 S 1 0 1 DDTL,GSTT2,GSTT2B 1 nsv829104 22 22604107 22627314 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435619,nssv1439423,nssv1434837 M 31 0 3 "" NA18570,NA18942,NA18973 nsv829105 22 22604107 22641501 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437208 S 31 0 1 DDTL,GSTT2,GSTT2B NA18592 nsv9878 22 22604113 22736617 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25241,nssv26046,nssv26423,nssv22325,nssv26408,nssv25216,nssv26274,nssv26415,nssv25930,nssv23215,nssv26026,nssv26047,nssv27782,nssv22923,nssv25493,nssv26438,nssv27259,nssv27379,nssv22445,nssv25291,nssv25817,nssv22505,nssv28120,nssv27958,nssv26358,nssv27988,nssv28730,nssv24665,nssv22475,nssv27299,nssv24639,nssv25910,nssv25502,nssv26103,nssv28728,nssv22865,nssv26480,nssv25525,nssv22922,nssv26308,nssv25931,nssv22894,nssv24727,nssv25330,nssv26111,nssv25389,nssv25414,nssv24701,nssv26494,nssv25795,nssv25838,nssv26466,nssv25888,nssv27853,nssv27355,nssv28729,nssv25643,nssv26084,nssv26065,nssv25859,nssv22535,nssv25665,nssv26342,nssv26291,nssv24691,nssv26753,nssv24675,nssv22355,nssv25469,nssv23187,nssv22385,nssv25982,nssv22807,nssv27308,nssv26325,nssv22836,nssv27983,nssv26404,nssv25266,nssv27973,nssv27346,nssv27361,nssv24753,nssv27860,nssv25981,nssv27337,nssv27328,nssv27326,nssv26122,nssv26452,nssv26430,nssv25909,nssv25548,nssv25571,nssv24649,nssv28122,nssv26066,nssv27370,nssv27978,nssv27968,nssv27364,nssv27335,nssv26002,nssv27317,nssv25880,nssv28118,nssv26130 M 31 24 21 Samples from several populations that are part of the HapMap project. DDT,DDTL,GSTT1,GSTT2,GSTT2B,GSTTP1,GSTTP2,LOC391322 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv35n47 22 22604142 22641300 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498984,nsv498983 M 9 0 2 DDTL,GSTT2,GSTT2B esv6716 22 22604146 22641337 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29157 S 1 0 1 DDTL,GSTT2,GSTT2B SJK esv1009542 22 22606849 22613916 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586524 S 3 1 0 "" HuRef esv2421686 22 22613016 22670785 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056296,essv5076836,essv5154406,essv5142819,essv5142052,essv5144288,essv5141530,essv5038160,essv5064898,essv5136809,essv5047682,essv5083664,essv5073443,essv5025729,essv5135164,essv5117968,essv5018529,essv5134180,essv5028259,essv5134478,essv5012554,essv5017251,essv5134240,essv5030886,essv5159237,essv5016060,essv5092029,essv5105654,essv5151125,essv5042260,essv5085805,essv5046077,essv5076011,essv5073720,essv5133661,essv5052616,essv5145217,essv5102151,essv5144331,essv5137749,essv5079447,essv5106617,essv5013308,essv5141921,essv5039703,essv5129891,essv5103870,essv5158081,essv5016203,essv5061628,essv5145989,essv5089777,essv5077114,essv5075508,essv5101407,essv5067197,essv5080443,essv5039343,essv5072819,essv5029666,essv5003987,essv5059414,essv5134622,essv5158547,essv5094351,essv5110092,essv5096542,essv5042450,essv5034043,essv5019903,essv5016893,essv5012617,essv5043894,essv5098927,essv5125612,essv5033978,essv5125987,essv5107862,essv5045274,essv5050593,essv5083325,essv5022982,essv5138237,essv5031769,essv5055060,essv5016705,essv5098411,essv5042460,essv5148983,essv5096163,essv5128911,essv5148745,essv5004771,essv5005567,essv5055629,essv5093548,essv5108107,essv5104184,essv5105632,essv5097532,essv5019851,essv5076101,essv5119260,essv5114665,essv5105975,essv5078410,essv5087781,essv5149655,essv5135727,essv5109591,essv5011331,essv5039206,essv5063425,essv5146174,essv5094882,essv5102705,essv5017561,essv5030604,essv5076556,essv5127606,essv5068420,essv5132556,essv5100199,essv5066819,essv5112341,essv5032964,essv5014859,essv5017589,essv5035196,essv5052888,essv5032820,essv5043967,essv5085164,essv5113595,essv5113608,essv5130363,essv5008633,essv5108595,essv5078854,essv5129881,essv5101941,essv5104236,essv5111054,essv5117903,essv5119074,essv5130256,essv5117866,essv5061817,essv5007367,essv5109908,essv5020359,essv5089474,essv5136628,essv5032809,essv5012107,essv5136459,essv5064344,essv5045751,essv5152486,essv5147038,essv5070979,essv5160869,essv5069936,essv5125852,essv5092594,essv5027955,essv5156231,essv5058481,essv5085532,essv5028721,essv5159415,essv5132119,essv5054398,essv5015335,essv5080830,essv5103904,essv5022031,essv5083304,essv5157626,essv5084568,essv5053781,essv5035319,essv5077120,essv5039082,essv5078238,essv5145072,essv5050780,essv5021465,essv5103122,essv5153995,essv5111232,essv5067042,essv5011866,essv5155933,essv5097413,essv5019351,essv5062342,essv5097202,essv5087968,essv5131552,essv5064498,essv5136983,essv5035497,essv5092221,essv5021614,essv5121984,essv5100360,essv5103205,essv5116404,essv5088127,essv5038720,essv5019809,essv5002071,essv5140863,essv5123293,essv5021690,essv5089278,essv5130995,essv5105902,essv5006499,essv5102613,essv5160963,essv5091978,essv5147577,essv5079793,essv5151013,essv5083046,essv5005498,essv5010898,essv5019956,essv5055303,essv5074210,essv5084080,essv5012233,essv5104931,essv5120304,essv5075867,essv5090819,essv5045707,essv5154858,essv5112961,essv5044804,essv5061291,essv5131137,essv5161038,essv5139595,essv5013842,essv5144399,essv5005268,essv5085657,essv5154192,essv5013421,essv5156295,essv5046101,essv5127619,essv5136697,essv5039113,essv5071695,essv5077718,essv5092019,essv5144625,essv5050293,essv5056496,essv5073868,essv5021417,essv5062430,essv5026398,essv5018952,essv5097624,essv5161208,essv5039069,essv5088499,essv5082750,essv5150130,essv5128979,essv5084348,essv5104286,essv5112010,essv5156196,essv5140778,essv5138364,essv5125422,essv5071797,essv5079239,essv5075096,essv5008930,essv5034983,essv5086417,essv5006339,essv5005840,essv5012611,essv5089065,essv5062230,essv5051681,essv5074286,essv5007885,essv5108861,essv5131115,essv5023613,essv5133512,essv5047818,essv5027112,essv5155325,essv5029710,essv5089149,essv5013314,essv5091220,essv5074034,essv5038412,essv5027442,essv5040390,essv5044283,essv5013189,essv5070374,essv5103598,essv5109156,essv5122134,essv5148566,essv5036577,essv5103733,essv5079096,essv5049110,essv5050362,essv5061753,essv5160065,essv5035737,essv5045362,essv5032614,essv5007250,essv5014354,essv5021155,essv5009709,essv5067274,essv5161068,essv5009756,essv5120991,essv5137459,essv5018772,essv5049978,essv5050882,essv5062279,essv5158731,essv5007809,essv5137360,essv5060587,essv5107951,essv5074680,essv5145605,essv5052621,essv5070100,essv5073361,essv5114911,essv5024404,essv5154301,essv5094511,essv5116653,essv5129080,essv5036375,essv5147045,essv5039920,essv5159523,essv5062280,essv5070499,essv5055699,essv5115576,essv5101576,essv5060669,essv5034696,essv5003266,essv5052765,essv5041825,essv5156352,essv5135803,essv5015755,essv5029455,essv5011974,essv5082855,essv5128242,essv5134999,essv5017953,essv5008530,essv5009579,essv5121807,essv5041037,essv5096194,essv5038171,essv5029248,essv5142377,essv5023314,essv5113863,essv5047621,essv5081549,essv5021563,essv5015302,essv5015950,essv5060523,essv5118090,essv5114796,essv5104969,essv5160328,essv5082996,essv5082476,essv5155551,essv5070968,essv5059453,essv5159683,essv5042088,essv5030937,essv5042109,essv5128542,essv5159353,essv5008912,essv5074821,essv5017626,essv5093117,essv5158590,essv5142987,essv5149552,essv5058946,essv5095146,essv5099112,essv5078894,essv5030432,essv5068202,essv5145205,essv5126331,essv5021917,essv5157437,essv5027593,essv5151385,essv5148982,essv5147604,essv5104262,essv5118022,essv5130324,essv5032867,essv5123370,essv5099820,essv5128424,essv5134294,essv5136522,essv5061503,essv5027534,essv5016041,essv5004536,essv5098436,essv5105894,essv5075577,essv5118623,essv5030041,essv5038395,essv5049083,essv5032639,essv5003291,essv5020985,essv5136656,essv5091954,essv5059263,essv5046432,essv5006788,essv5102358,essv5020389,essv5018043,essv5113538,essv5047571,essv5052181,essv5028724,essv5035044,essv5023696,essv5079704,essv5033720,essv5157691,essv5031876,essv5139476,essv5122731,essv5147917,essv5103611,essv5103989,essv5131101,essv5082576,essv5025775,essv5107249,essv5013731,essv5085037,essv5138378,essv5053537,essv5007869,essv5085264,essv5146568,essv5071085,essv5138639,essv5070986,essv5028335,essv5124672,essv5050002,essv5023496,essv5133546,essv5028524,essv5151673,essv5034232,essv5032864,essv5157193,essv5108008,essv5034676,essv5008570,essv5124575,essv5111647,essv5155873,essv5083520,essv5150690,essv5066557,essv5150067,essv5145712,essv5146362,essv5157198,essv5018035,essv5015914,essv5081436,essv5114249,essv5010489,essv5059377,essv5094561,essv5158342,essv5051948,essv5076520,essv5156069,essv5147953,essv5070920,essv5029470,essv5054163,essv5106081,essv5018271,essv5126734,essv5150246,essv5131601,essv5004383,essv5117640,essv5072245,essv5108929,essv5124113,essv5065408,essv5013459,essv5033724,essv5038291,essv5018031,essv5018041,essv5040623,essv5083238,essv5139037,essv5001921,essv5160349,essv5106877,essv5070081,essv5014351,essv5131390,essv5060969,essv5007294,essv5017835 M 1184 247 311 DDT,DDTL,GSTT2,GSTT2B,GSTTP1 NA06984,NA06986,NA06993,NA06995,NA06997,NA07022,NA07055,NA07346,NA07347,NA07349,NA07357,NA10831,NA10835,NA10836,NA10837,NA10839,NA10843,NA10845,NA10846,NA10852,NA10854,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11831,NA11832,NA11839,NA11843,NA11881,NA11882,NA11891,NA11893,NA11894,NA11917,NA11918,NA11919,NA11931,NA12003,NA12006,NA12044,NA12045,NA12144,NA12146,NA12154,NA12155,NA12156,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12344,NA12347,NA12348,NA12489,NA12546,NA12716,NA12718,NA12740,NA12748,NA12752,NA12753,NA12760,NA12761,NA12766,NA12776,NA12777,NA12801,NA12817,NA12829,NA12830,NA12842,NA12843,NA12865,NA12874,NA12878,NA12890,NA12891,NA17965,NA17970,NA17976,NA17977,NA17979,NA17980,NA17981,NA17983,NA17998,NA18101,NA18106,NA18108,NA18109,NA18122,NA18127,NA18128,NA18134,NA18140,NA18144,NA18146,NA18148,NA18150,NA18151,NA18153,NA18154,NA18158,NA18159,NA18160,NA18161,NA18162,NA18489,NA18503,NA18506,NA18507,NA18509,NA18517,NA18519,NA18524,NA18526,NA18529,NA18532,NA18537,NA18544,NA18545,NA18546,NA18548,NA18550,NA18558,NA18559,NA18562,NA18570,NA18576,NA18577,NA18582,NA18593,NA18594,NA18595,NA18599,NA18605,NA18608,NA18609,NA18617,NA18620,NA18621,NA18623,NA18624,NA18631,NA18635,NA18636,NA18637,NA18640,NA18643,NA18647,NA18670,NA18685,NA18689,NA18696,NA18704,NA18748,NA18858,NA18859,NA18862,NA18868,NA18873,NA18911,NA18914,NA18917,NA18923,NA18925,NA18935,NA18939,NA18944,NA18945,NA18949,NA18952,NA18953,NA18954,NA18957,NA18961,NA18962,NA18968,NA18969,NA18970,NA18973,NA18975,NA18976,NA18977,NA18980,NA18981,NA18987,NA18993,NA18994,NA18995,NA19007,NA19009,NA19031,NA19035,NA19036,NA19046,NA19059,NA19063,NA19064,NA19065,NA19066,NA19070,NA19075,NA19079,NA19081,NA19083,NA19088,NA19094,NA19095,NA19097,NA19098,NA19099,NA19102,NA19103,NA19107,NA19109,NA19113,NA19114,NA19116,NA19120,NA19122,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19141,NA19143,NA19146,NA19148,NA19153,NA19161,NA19171,NA19172,NA19175,NA19178,NA19180,NA19182,NA19183,NA19185,NA19186,NA19190,NA19192,NA19201,NA19206,NA19208,NA19209,NA19226,NA19239,NA19248,NA19256,NA19257,NA19310,NA19311,NA19318,NA19319,NA19324,NA19334,NA19346,NA19352,NA19371,NA19372,NA19375,NA19379,NA19381,NA19382,NA19384,NA19385,NA19391,NA19394,NA19397,NA19404,NA19430,NA19431,NA19435,NA19437,NA19448,NA19457,NA19462,NA19466,NA19473,NA19474,NA19649,NA19650,NA19652,NA19653,NA19656,NA19657,NA19658,NA19659,NA19661,NA19662,NA19663,NA19665,NA19670,NA19671,NA19675,NA19677,NA19678,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19704,NA19708,NA19714,NA19721,NA19724,NA19725,NA19746,NA19747,NA19749,NA19751,NA19760,NA19761,NA19763,NA19770,NA19771,NA19773,NA19775,NA19777,NA19779,NA19782,NA19788,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19917,NA19918,NA19983,NA20126,NA20129,NA20284,NA20288,NA20289,NA20297,NA20300,NA20317,NA20319,NA20322,NA20335,NA20342,NA20343,NA20344,NA20346,NA20347,NA20348,NA20349,NA20356,NA20357,NA20359,NA20363,NA20502,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20527,NA20528,NA20530,NA20534,NA20535,NA20540,NA20542,NA20543,NA20544,NA20581,NA20753,NA20754,NA20755,NA20757,NA20759,NA20760,NA20761,NA20770,NA20773,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20806,NA20807,NA20812,NA20815,NA20826,NA20846,NA20850,NA20851,NA20852,NA20853,NA20856,NA20858,NA20861,NA20866,NA20869,NA20870,NA20872,NA20873,NA20874,NA20876,NA20879,NA20883,NA20887,NA20888,NA20890,NA20892,NA20895,NA20898,NA20903,NA20906,NA20908,NA20909,NA21094,NA21098,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21109,NA21113,NA21119,NA21123,NA21125,NA21141,NA21142,NA21301,NA21303,NA21307,NA21309,NA21314,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21356,NA21357,NA21361,NA21362,NA21363,NA21364,NA21365,NA21367,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21386,NA21391,NA21399,NA21400,NA21401,NA21402,NA21405,NA21408,NA21415,NA21418,NA21420,NA21421,NA21424,NA21425,NA21434,NA21436,NA21439,NA21442,NA21455,NA21475,NA21476,NA21477,NA21480,NA21487,NA21489,NA21509,NA21510,NA21514,NA21517,NA21519,NA21520,NA21521,NA21523,NA21525,NA21526,NA21527,NA21528,NA21573,NA21577,NA21580,NA21587,NA21596,NA21597,NA21619,NA21620,NA21635,NA21678,NA21683,NA21686,NA21689,NA21717,NA21719,NA21722,NA21738,NA21739,NA21740,NA21768,NA21776,NA21825,NA21826 nsv442792 22 22613016 22670785 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DDT,DDTL,GSTT2,GSTT2B,GSTTP1 essv6078 22 22613516 22661899 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DDT,DDTL,GSTT2,GSTT2B NA18621 nsv511645 22 22614280 22622264 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626280 S 1 0 1 "" 1 nsv433179 22 22615056 22627130 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463060 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1449016 22 22622523 22632218 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157089 S 2 0 0 GSTT2,GSTT2B HuRef nsv511643 22 22633602 22672338 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626278 S 1 0 1 DDT,DDTL,GSTT2,GSTTP1 1 nsv471423 22 22643554 22652019 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548239,nssv548240 M 3 DDT,DDTL nsv482073 22 22643554 22652019 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558434 S 1 1 0 DDT,DDTL KB1 dgv751n67 22 22643957 22658743 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829106,nsv829107 M 31 0 2 DDT,DDTL,GSTT2 AK14,NA18564 nsv914614 22 22644006 22728586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538330 S 6533 0 1 DDT,DDTL,GSTT1,GSTT2,GSTTP1,GSTTP2,LOC391322 MS13693 nsv829109 22 22644255 22671588 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434838 S 31 0 1 DDT,DDTL,GSTT2,GSTTP1 NA18570 dgv4912n71 22 22644258 22713954 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914623,nsv914619,nsv914615,nsv914620 M 6533 11 0 DDT,DDTL,GSTT1,GSTT2,GSTTP1,LOC391322 SP51040,SP51419,SP54593,SP55539,SP55749,SP55774,SP56042,SP56089,SP57201,SP57469,SP81067 nsv914616 22 22644258 22734578 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508366,nssv1499697,nssv1502786,nssv1500535,nssv1517155,nssv1517220 M 6533 6 0 DDT,DDTL,GSTT1,GSTT2,GSTTP1,GSTTP2,LOC391322 SP50103,SP50117,SP51411,SP54551,SP57197,SP57208 nsv471424 22 22652314 22656106 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548241,nssv548242 M 3 GSTT2 nsv482074 22 22652314 22656106 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558435 S 1 1 0 GSTT2 KB1 dgv4913n71 22 22653131 22735492 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914627,nsv914621,nsv914617,nsv914618,nsv914624,nsv914626,nsv914622 M 6533 30 0 GSTT1,GSTT2,GSTTP1,GSTTP2,LOC391322 MS15952,SP50125,SP50134,SP50520,SP50615,SP50850,SP51086,SP51109,SP51302,SP51427,SP51494,SP52677,SP54355,SP54429,SP54726,SP54766,SP55567,SP55807,SP55842,SP55852,SP56224,SP56549,SP56878,SP57347,SP57367,SP57482,SP57485,SP57545,SP57690,SP57983 esv33747 22 22656853 22671398 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94972,essv98407 M 51 2 0 GSTTP1 22231,22352 nsv829110 22 22658343 22671588 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439424 S 31 0 1 GSTTP1 NA18973 nsv820435 22 22659462 22734826 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420160 S 1 0 1 GSTT1,GSTTP1,GSTTP2,LOC391322 NA10851 nsv829111 22 22659462 22734826 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431776,nssv1435620,nssv1433387,nssv1422786,nssv1440779,nssv1437219,nssv1434839,nssv1434135 M 31 0 8 GSTT1,GSTTP1,GSTTP2,LOC391322 AK18,NA18526,NA18564,NA18570,NA18592,NA18942,NA18969,NA18972 nsv516816 22 22666327 22668071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660595,nssv683953,nssv671127,nssv671496,nssv690799 M 2026 0 5 "" nsv914625 22 22668071 22728586 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502063,nssv1518990,nssv1503588,nssv1504448,nssv1518343,nssv1503099,nssv1503023,nssv1506832 M 6533 7 1 GSTT1,GSTTP1,GSTTP2,LOC391322 SP51069,SP51477,SP51485,SP52077,SP52493,SP54407,SP57501,SP80925 dgv102e180 22 22670684 22734058 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990958,esv991832,esv996113 M 3 1 0 GSTT1,GSTTP1,GSTTP2,LOC391322 HuRef esv33707 22 22671397 22734855 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98853,essv97491,essv93890,essv93881,essv100800,essv96749,essv100930,essv95153,essv98270,essv94102,essv101410,essv97798,essv95566,essv95528,essv94570,essv92857,essv93610,essv99980,essv95967,essv93438,essv99739,essv94957,essv99281,essv100281,essv100467,essv99366,essv98459,essv96256 M 51 18 9 GSTT1,GSTTP1,GSTTP2,LOC391322 21606,21616,21634,21656,21659,21693,21721,21772,21802,21805,21837,21841,21847,21932,21939,21972,22086,22127,22128,22217,22231,22275,22286,22298,22335,22352,22371 nsv436358 22 22672707 22727776 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465767 S 2 0 1 Samples from several populations that are part of the HapMap project. GSTT1,GSTTP1,GSTTP2,LOC391322 NA18505 nsv819129 22 22672948 22728368 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418751 S 2 1 0 GSTT1,GSTTP1,GSTTP2,LOC391322 AK1 nsv498985 22 22673050 22728994 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585846 S 9 0 1 GSTT1,GSTTP1,GSTTP2,LOC391322 dgv752n67 22 22674258 22725680 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829112,nsv829113 M 31 0 4 GSTT1,GSTTP1,GSTTP2,LOC391322 NA18552,NA18582,NA18947,NA18951 esv2421529 22 22674422 22726814 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096140,essv5088031,essv5048809,essv5150792,essv5124538,essv5099853,essv5056384,essv5117737,essv5014737,essv5046580,essv5130046,essv5056820,essv5082669,essv5030845,essv5094163,essv5071779,essv5144004,essv5005976,essv5143077,essv5068350,essv5142093,essv5126807,essv5130342,essv5048541,essv5116284,essv5023453,essv5005455,essv5065724,essv5043149,essv5111542,essv5057478,essv5133357,essv5140160,essv5109832,essv5158652,essv5068780,essv5075583,essv5023963,essv5080006,essv5065485,essv5101949,essv5089094,essv5009578,essv5118644,essv5127184,essv5004917,essv5049619,essv5120605,essv5136934,essv5009179,essv5084621,essv5039442,essv5021595,essv5087191,essv5138656,essv5034661,essv5147838,essv5064381,essv5155507,essv5098595,essv5145486,essv5014298,essv5077055,essv5112375,essv5125138,essv5075330,essv5161008,essv5037586,essv5141946,essv5137049,essv5034062,essv5005096,essv5014884,essv5057617,essv5004439,essv5090322,essv5057819,essv5156834,essv5003914,essv5032593,essv5050640,essv5027182,essv5144097,essv5072801,essv5055454,essv5071130,essv5021523,essv5039108,essv5043391,essv5076980,essv5113294,essv5155196,essv5120504,essv5062692,essv5071677,essv5108987,essv5057746,essv5074855,essv5049154,essv5092230,essv5040284,essv5148235,essv5054472,essv5107124,essv5140953,essv5104005,essv5084133,essv5071570,essv5077691,essv5064447,essv5017064,essv5036627,essv5078131,essv5004973,essv5145597,essv5014766,essv5093075,essv5035142,essv5121737,essv5111856,essv5130033,essv5105369,essv5009084,essv5107252,essv5061891,essv5147997,essv5019761,essv5053335,essv5088143,essv5141046,essv5054814,essv5061727,essv5004019,essv5118169,essv5102157,essv5023524,essv5044748,essv5012603,essv5121391,essv5040222,essv5045525,essv5037103,essv5020991,essv5151798,essv5153667,essv5055486,essv5003484,essv5066054,essv5143480,essv5110832,essv5144205,essv5058981,essv5121378,essv5006004,essv5084932,essv5103386,essv5066223,essv5096823,essv5114978,essv5028548,essv5133949,essv5138115,essv5126872,essv5063468,essv5100965,essv5022283,essv5020571,essv5028410,essv5073852,essv5068569,essv5050247,essv5110132,essv5147093,essv5073679,essv5153288,essv5077157,essv5074450,essv5086932,essv5019616,essv5069809,essv5038506,essv5038822,essv5027744,essv5134857,essv5100190,essv5100402,essv5096955,essv5127160,essv5007025,essv5090571,essv5037919,essv5067437,essv5112433,essv5131229,essv5042741,essv5043990,essv5088950,essv5084433,essv5091891,essv5032132,essv5031205,essv5049709,essv5037416,essv5022150,essv5076667,essv5141307,essv5146076,essv5014717,essv5126328,essv5031747,essv5103690,essv5020385,essv5113384,essv5002654,essv5016546,essv5033742,essv5114691,essv5060457,essv5071560,essv5048472,essv5054886,essv5051883,essv5077370,essv5039154,essv5033545,essv5005979,essv5127750,essv5026586,essv5051333,essv5121495,essv5139445,essv5092235,essv5138979,essv5147453,essv5046012,essv5035935,essv5010415,essv5127844,essv5073876,essv5145626,essv5047222,essv5069872,essv5049851,essv5007979,essv5030125,essv5039038,essv5087575,essv5038780,essv5097014,essv5013613,essv5155512,essv5119621,essv5067738,essv5029255,essv5035499,essv5121345,essv5111531,essv5022876,essv5007903,essv5085867,essv5046366,essv5123902,essv5145855,essv5028500,essv5146472,essv5044596,essv5146302,essv5126779,essv5078851,essv5143766,essv5124840,essv5061622,essv5018193,essv5034300,essv5124017,essv5042914,essv5064010,essv5021293,essv5146621,essv5112832,essv5155132,essv5057278,essv5159111,essv5078550,essv5148064,essv5052850,essv5124083,essv5129540,essv5004082,essv5059479,essv5043411,essv5049666,essv5128316,essv5063746,essv5110642,essv5099358,essv5127238,essv5144964,essv5139026,essv5087505,essv5017655,essv5059744,essv5099737,essv5146105,essv5124823,essv5008707,essv5110955,essv5045509,essv5156552,essv5060886,essv5066728,essv5070159,essv5140179,essv5042067,essv5004622,essv5046469,essv5043774,essv5056373,essv5158301,essv5019529,essv5020931,essv5119200,essv5098941,essv5089927,essv5146926,essv5124193,essv5158104,essv5018988,essv5019428,essv5136024,essv5014575,essv5155607,essv5114755,essv5153256,essv5092012,essv5072155,essv5034399,essv5062873,essv5122211,essv5146901,essv5031126,essv5150667,essv5146256,essv5066072,essv5096889,essv5158531,essv5009490,essv5078434,essv5119070,essv5035901,essv5014721,essv5073527,essv5015370,essv5043996,essv5050222,essv5148273,essv5008780,essv5045681,essv5146200,essv5100494,essv5015587,essv5053298,essv5099306,essv5122971,essv5046733,essv5062742,essv5026296,essv5006699,essv5084826,essv5028976,essv5083771,essv5040793,essv5154434,essv5021730,essv5063900,essv5104174,essv5132403,essv5048372,essv5085085,essv5005157,essv5129835,essv5081427,essv5135143,essv5015111,essv5152228,essv5038136,essv5134626,essv5002461,essv5084259,essv5099600,essv5100013,essv5099001,essv5073940,essv5041068,essv5017694,essv5160494,essv5073996,essv5004789,essv5082871,essv5025191,essv5080861,essv5047251,essv5072860,essv5157620,essv5129733,essv5096114,essv5022721,essv5113111,essv5089435,essv5012957,essv5017675,essv5126560,essv5160481,essv5019069,essv5092747,essv5037970,essv5031355,essv5070656,essv5147119,essv5015897,essv5099247,essv5077522,essv5087374,essv5119777,essv5046643,essv5112238,essv5142590,essv5091559,essv5017845,essv5072304,essv5153954,essv5039340,essv5128132,essv5040575,essv5102970,essv5078971,essv5025933,essv5110428,essv5145374,essv5123059,essv5038384,essv5039643,essv5118289,essv5026397,essv5011305,essv5058311,essv5040794,essv5125715,essv5145287,essv5048499,essv5109330,essv5141843,essv5042094,essv5149304,essv5100550,essv5070053,essv5113241,essv5118837,essv5109809,essv5028454,essv5053231,essv5155619,essv5155812,essv5148217,essv5109386,essv5076148,essv5105368,essv5089662,essv5057381,essv5155718,essv5028904,essv5078025,essv5103036,essv5158146,essv5120596,essv5061074,essv5020824,essv5126952,essv5093787,essv5140513,essv5013247,essv5129990,essv5143391,essv5122052,essv5067527,essv5100753,essv5017192,essv5156778,essv5127553,essv5145781,essv5023535,essv5103013,essv5074028,essv5097451,essv5158083,essv5110728,essv5094930,essv5086949,essv5011124,essv5139281,essv5161114,essv5023492,essv5076669,essv5013737,essv5005433,essv5116137,essv5046732,essv5095842,essv5043005,essv5040446,essv5155621,essv5092732,essv5129695,essv5099015,essv5006974,essv5090063,essv5047263,essv5151546,essv5090191,essv5098497,essv5161070,essv5153077,essv5115742,essv5122455,essv5057722,essv5012199,essv5005980,essv5052598,essv5086770,essv5096012,essv5049579,essv5057776,essv5072593,essv5137482,essv5068115,essv5081794,essv5105639,essv5154473,essv5094910,essv5116564,essv5058118,essv5026609,essv5146991,essv5040817,essv5056983,essv5120088,essv5084804,essv5153219,essv5021529,essv5160125,essv5100657,essv5120653,essv5032651,essv5129751,essv5043543,essv5087895,essv5122689,essv5009733,essv5141938,essv5053136,essv5019473,essv5094349,essv5013639,essv5096282,essv5037607,essv5035934,essv5110171,essv5143986,essv5158337,essv5019320,essv5019641,essv5061784,essv5004908,essv5093844,essv5137009,essv5050557,essv5124803,essv5098346,essv5126794,essv5036829,essv5097112,essv5097421,essv5026758,essv5134553,essv5094762,essv5048558,essv5039736,essv5117180,essv5020070,essv5116550,essv5095317,essv5063986,essv5012876,essv5144157,essv5078165,essv5056135,essv5010198,essv5028579,essv5063809,essv5045574,essv5107854,essv5082295,essv5070124,essv5046439,essv5076861,essv5015890,essv5013767,essv5106143,essv5052972,essv5132877,essv5143515,essv5102300,essv5134219,essv5130025,essv5130471,essv5035210,essv5116038,essv5031350,essv5051317,essv5146828,essv5029616,essv5080703,essv5075010,essv5119463,essv5103969,essv5116555,essv5101005,essv5046740,essv5062842,essv5153841,essv5160956,essv5100313,essv5023292,essv5019940,essv5049789,essv5015450,essv5024838,essv5101129,essv5064713,essv5098582,essv5071309,essv5130596,essv5134915,essv5132050,essv5030514,essv5117034,essv5111158,essv5100591,essv5134960,essv5049982,essv5025629,essv5121105,essv5113263,essv5008469,essv5037296,essv5049353,essv5006645,essv5123474,essv5090027,essv5042974,essv5016295,essv5116051,essv5067218,essv5023603,essv5021046,essv5115265,essv5129457,essv5033099,essv5151438,essv5049823,essv5074386,essv5135746,essv5056035,essv5110727,essv5040488,essv5078978,essv5150691,essv5123158,essv5026802,essv5049708,essv5141486,essv5050129,essv5124969,essv5123638,essv5071910,essv5003167,essv5077623,essv5156965,essv5028039,essv5155941,essv5101441,essv5024903,essv5004087,essv5111208,essv5153846,essv5020978,essv5079084,essv5053143,essv5089844,essv5085295,essv5040036,essv5121748,essv5097110,essv5124239,essv5102412,essv5044625,essv5082364,essv5160642,essv5005576,essv5095456,essv5108515,essv5037201,essv5107383,essv5096837,essv5053519,essv5056518,essv5119195,essv5033395,essv5153008,essv5044463,essv5082532,essv5048408,essv5110385,essv5045458,essv5147387,essv5135159,essv5137642,essv5040785,essv5050076,essv5017024,essv5039227,essv5121948,essv5037180,essv5019589,essv5076379,essv5063121,essv5136333,essv5050248,essv5045363,essv5092859,essv5065725,essv5020574,essv5136289,essv5104064,essv5151402,essv5022541,essv5032418,essv5122331,essv5058686,essv5051185,essv5080429,essv5004612,essv5150557,essv5072064,essv5081702,essv5081408,essv5134711,essv5139002,essv5114298,essv5156556,essv5043191,essv5115315,essv5121102,essv5107936,essv5132557,essv5010909,essv5009878,essv5011737,essv5004287,essv5031240,essv5022404,essv5128841,essv5032012,essv5125947,essv5018542,essv5029801,essv5045160,essv5019666,essv5004565,essv5110363,essv5058643,essv5099440,essv5016330,essv5024472,essv5069801,essv5031748,essv5118960,essv5075175,essv5119129,essv5082502,essv5023765,essv5058795,essv5038754,essv5065278,essv5063208,essv5118759,essv5005053,essv5156622,essv5114631,essv5139507,essv5010339,essv5009612,essv5076752,essv5064729,essv5059711,essv5134410,essv5045719,essv5084674,essv5085165,essv5094263,essv5041123,essv5060949,essv5135010,essv5081341,essv5026074,essv5090257,essv5051130,essv5138151,essv5077963,essv5029070,essv5068267,essv5115196,essv5145427,essv5136839,essv5150887,essv5039036,essv5137011,essv5112866,essv5031544,essv5154566,essv5152326,essv5083151,essv5112477,essv5028345,essv5142737,essv5015220,essv5100708,essv5081689,essv5121777,essv5149483,essv5116666,essv5070735,essv5062092,essv5107492,essv5005280,essv5028376,essv5142274,essv5063864,essv5129464,essv5008881,essv5052294,essv5080968,essv5160912,essv5107525,essv5025141,essv5089574,essv5136773,essv5106932,essv5078175,essv5067555,essv5083890,essv5087212,essv5160658,essv5111920,essv5049089,essv5024396,essv5052614,essv5159442,essv5042488,essv5010958,essv5098180,essv5089698,essv5051000,essv5042391,essv5092144,essv5094758,essv5144196,essv5122234,essv5056301,essv5049920,essv5130965,essv5126168 M 1184 0 882 GSTT1,GSTTP1,GSTTP2,LOC391322 NA06985,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07029,NA07031,NA07037,NA07045,NA07056,NA07345,NA07347,NA07348,NA07357,NA07435,NA10830,NA10838,NA10840,NA10847,NA10850,NA10853,NA10855,NA10856,NA10861,NA11829,NA11830,NA11832,NA11839,NA11840,NA11892,NA11918,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12003,NA12043,NA12044,NA12056,NA12057,NA12145,NA12234,NA12239,NA12286,NA12343,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12546,NA12708,NA12739,NA12740,NA12749,NA12750,NA12751,NA12762,NA12763,NA12767,NA12775,NA12778,NA12812,NA12813,NA12814,NA12817,NA12818,NA12827,NA12829,NA12832,NA12842,NA12864,NA12865,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18484,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18526,NA18529,NA18532,NA18536,NA18537,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18949,NA18951,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18968,NA18969,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19066,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19103,NA19107,NA19108,NA19114,NA19115,NA19116,NA19119,NA19121,NA19122,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19152,NA19153,NA19154,NA19171,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19190,NA19192,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19248,NA19249,NA19256,NA19257,NA19258,NA19308,NA19309,NA19310,NA19311,NA19314,NA19316,NA19317,NA19324,NA19327,NA19332,NA19346,NA19347,NA19350,NA19352,NA19371,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19448,NA19451,NA19452,NA19456,NA19457,NA19463,NA19466,NA19467,NA19468,NA19473,NA19474,NA19625,NA19651,NA19654,NA19658,NA19659,NA19660,NA19661,NA19662,NA19664,NA19669,NA19670,NA19671,NA19675,NA19677,NA19678,NA19680,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19756,NA19757,NA19759,NA19760,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19779,NA19780,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19828,NA19834,NA19900,NA19901,NA19904,NA19908,NA19909,NA19917,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20129,NA20281,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20300,NA20302,NA20317,NA20319,NA20322,NA20333,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20350,NA20357,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20512,NA20516,NA20517,NA20518,NA20519,NA20521,NA20527,NA20529,NA20531,NA20534,NA20539,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20756,NA20757,NA20758,NA20761,NA20766,NA20768,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20790,NA20792,NA20795,NA20803,NA20805,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20828,NA20845,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20873,NA20877,NA20881,NA20882,NA20885,NA20888,NA20889,NA20891,NA20894,NA20896,NA20897,NA20898,NA20900,NA20901,NA20902,NA20904,NA20907,NA20908,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21115,NA21116,NA21117,NA21119,NA21123,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21317,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21421,NA21424,NA21434,NA21435,NA21436,NA21441,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21488,NA21489,NA21490,NA21491,NA21493,NA21510,NA21512,NA21514,NA21517,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21575,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21647,NA21648,NA21650,NA21682,NA21683,NA21685,NA21693,NA21716,NA21717,NA21718,NA21719,NA21723,NA21733,NA21739,NA21740,NA21741,NA21768,NA21784,NA21825 nsv829114 22 22676657 22725680 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425469,nssv1436301 M 31 1 1 GSTT1,GSTTP1,GSTTP2,LOC391322 AK2,NA18566 nsv829115 22 22677157 22678612 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423606,nssv1422329 M 31 0 2 GSTTP1 NA18547,NA18997 dgv753n67 22 22677759 22678612 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829117,nsv829116 M 31 0 6 "" AK2,AK4,NA18537,NA18949,NA18973,NA18999 esv29978 22 22677759 22725505 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84217 S 2 1 0 GSTT1,GSTTP2,LOC391322 HuRef nsv514966 22 22677958 22725540 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628371 S 1414 0 0 GSTT1,GSTTP2,LOC391322 esv29950 22 22677959 22725353 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84189 S 3 1 0 GSTT1,GSTTP2,LOC391322 WATSON nsv442793 22 22680529 22726814 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GSTT1,GSTTP2,LOC391322 nsv829118 22 22686490 22696280 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423619 S 31 0 1 "" NA18547 nsv433180 22 22688572 22715105 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463061 S 9 0 1 Samples from several populations that are part of the HapMap project. GSTT1,LOC391322 NA18555 nsv914628 22 22698161 22938329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547098 S 6533 0 1 CABIN1,GSTT1,GSTTP2,LOC391322,SUSD2 MS17208 nsv829120 22 22701012 22701911 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437908 S 31 0 1 "" NA18949 nsv829121 22 22701012 22702555 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422331,nssv1440090,nssv1423920 M 31 0 3 "" NA18537,NA18997,NA18999 nsv829122 22 22702821 22706199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440091 S 31 0 1 GSTT1,LOC391322 NA18537 dgv754n67 22 22704483 22706185 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829125,nsv829124,nsv829123 M 31 0 7 GSTT1 AK12,AK2,AK4,NA18547,NA18973,NA18997,NA18999 nsv482075 22 22706139 22714284 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558436 S 1 0 1 GSTT1 KB1 nsv438340 22 22706833 22706929 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470946,nssv470935,nssv470941,nssv470933,nssv470932,nssv470931,nssv470945,nssv470943,nssv470942,nssv470936,nssv470938,nssv470934,nssv470939,nssv470937,nssv470944 M 269 0 15 Samples from several populations that are part of the HapMap project. GSTT1 NA07056,NA07357,NA10838,NA10851,NA10856,NA10857,NA10861,NA11829,NA11832,NA12043,NA12044,NA12239,NA12751,NA12865,NA12874 dgv755n67 22 22714572 22715933 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829126,nsv829128 M 31 0 8 "" AK12,AK2,AK4,NA18537,NA18547,NA18949,NA18997,NA18999 nsv829127 22 22714864 22715430 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439427 S 31 0 1 "" NA18973 nsv829129 22 22718454 22720427 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422334 S 31 0 1 GSTTP2 NA18997 nsv914629 22 22728586 23307286 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527805 S 6533 1 0 ADORA2A,C22orf13,C22orf45,CABIN1,GGT5,GSTTP2,POM121L9P,SNRPD3,SPECC1L,SUSD2,UPB1 SP80994 nsv834156 22 22730730 22872351 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455905,nssv1455906,nssv1455904,nssv1455903 M 95 1 3 CABIN1,GSTTP2 esv33744 22 22735270 22736646 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100747 S 51 0 1 "" 21656 nsv834157 22 22784117 22968203 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455907 S 95 1 0 CABIN1,GGT5,SUSD2 esv1201518 22 22791569 22791569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339579 S 2 1 0 CABIN1 HuRef nsv508730 22 22807026 22934319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619878 S 4 1 0 CABIN1,SUSD2 NA10860 nsv914630 22 22810503 22952648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538771 S 6533 0 1 CABIN1,GGT5,SUSD2 MS13770 nsv834158 22 22852255 23019838 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455908 S 95 1 0 CABIN1,GGT5,POM121L9P,SPECC1L,SUSD2 nsv528842 22 22865229 22973609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705519 S 2026 0 1 CABIN1,GGT5,SUSD2 nsv914631 22 22865229 22999122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531054 S 6533 0 1 CABIN1,GGT5,POM121L9P,SPECC1L,SUSD2 MS10311 nsv914632 22 22872480 22924081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510444 S 6533 0 1 CABIN1,SUSD2 SP54956 nsv9881 22 22904587 22912683 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv24778 S 31 0 1 Samples from several populations that are part of the HapMap project. CABIN1,SUSD2 NA07029 esv21680 22 22908505 22910887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17584,esv12724 M 451 0 3 SUSD2 NA06985,NA12044,NA18508 nsv528009 22 22945506 22973609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704535 S 2026 0 1 GGT5 nsv9882 22 22962798 22993776 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26508,nssv27796,nssv27964,nssv27867,nssv24803,nssv27789,nssv28124,nssv25316,nssv25516,nssv27344 M 31 6 3 Samples from several populations that are part of the HapMap project. GGT5,POM121L9P NA07029,NA07048,NA10863,NA12155,NA18517,NA18537,NA18860,NA18972,NA19132 esv24290 22 22963691 23005073 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14219,esv11783,esv17154,esv16656 M 451 14 0 GGT5,POM121L9P,SPECC1L NA06985,NA07045,NA11894,NA11995,NA12004,NA18502,NA18508,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19190 esv2493035 22 22970284 22970438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248329 S 1 0 1 GGT5 NA18507 nsv9883 22 22999486 23005872 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27970,nssv28126,nssv26522,nssv25539,nssv27803,nssv25341 M 31 5 1 Samples from several populations that are part of the HapMap project. SPECC1L NA07048,NA10863,NA18517,NA18537,NA18860,NA19132 nsv834160 22 23055940 23233655 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455909,nssv1455910 M 95 2 0 ADORA2A,C22orf45,SPECC1L,UPB1 esv996036 22 23135586 23142738 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564811 S 3 0 1 SPECC1L HuRef nsv914633 22 23138993 23210174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529905 S 6533 0 1 ADORA2A,C22orf45,SPECC1L MS10123 nsv9884 22 23141593 23388216 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26536,nssv28761,nssv27353,nssv27810,nssv27874,nssv28128 M 31 4 2 Samples from several populations that are part of the HapMap project. ADORA2A,BCRP3,C22orf13,C22orf36,C22orf45,GGT1,POM121L10P,SNRPD3,SPECC1L,UPB1 NA12155,NA18537,NA18860,NA18972,NA19132,NA19221 nsv914634 22 23143165 23172452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510445 S 6533 0 1 ADORA2A,C22orf45,SPECC1L SP54956 nsv914635 22 23307901 23343346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510446 S 6533 0 1 C22orf36,GGT1 SP54956 nsv914636 22 23314186 23325202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511638 S 6533 0 1 C22orf36,GGT1 SP55021 esv1162534 22 23331429 23331553 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227974 S 2 0 1 GGT1 HuRef nsv482076 22 23333655 23354972 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558437 S 1 1 0 GGT1 KB1 esv25356 22 23334960 23387034 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17388,esv14577,esv13287,esv12417 M 451 17 0 BCRP3,GGT1,POM121L10P NA06985,NA07045,NA11894,NA12004,NA12489,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA19099,NA19114,NA19129,NA19147,NA19190 esv2530395 22 23342903 23403295 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281358 S 1 0 1 BCRP3,GGT1,POM121L10P NA18507 dgv1391e1 22 23387722 23427691 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv327,essv12368 M 271 0 0 "" NA19138 nsv521963 22 23409925 23429115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694731 S 2026 0 1 "" nsv3579 22 23428031 23461947 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5927 S 9 1 0 PIWIL3 NA19129 esv2611432 22 23447138 23448685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246030 S 1 0 1 PIWIL3 NA18507 nsv522434 22 23447920 23475453 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705790 S 2026 1 0 PIWIL3 nsv914637 22 23447920 23529298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557477 S 6533 0 1 PIWIL3,TOP1P2 MS22705 esv25685 22 23575604 23576110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12541 S 451 0 1 SGSM1 NA19129 nsv834161 22 23595742 23764020 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455911 S 95 1 0 KIAA1671,SGSM1,TMEM211 nsv819966 22 23650450 23650716 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419548 S 2 1 0 SGSM1 AK1 nsv3580 22 23657162 23701225 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4580 S 9 0 1 TMEM211 NA12878 nsv459683 22 23671203 23718318 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536409 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00780 esv274892 22 23675537 23680087 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585307 S 1250 0 1 "" nsv459684 22 23695714 23778604 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536410 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1671 HGDP00655 nsv471188 22 23695714 23781313 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545515 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1671 HGDP00655 dgv1392e1 22 23696801 24376513 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv536,essv23412 M 271 0 0 ADRBK2,CRYBB2,CRYBB2P1,CRYBB3,IGLL3P,KIAA1671,LOC100128531,LRP5L NA10854 nsv524236 22 23740266 23746023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700126 S 2026 0 1 "" nsv469581 22 23742886 23902859 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649695 M 265 0 10 Samples from several populations that are part of the HapMap project. KIAA1671,LOC100128531 nsv9885 22 23756669 23763434 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25594 S 31 1 0 Samples from several populations that are part of the HapMap project. KIAA1671 NA18552 nsv9886 22 23768932 23771184 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25687,nssv27373 M 31 0 2 Samples from several populations that are part of the HapMap project. KIAA1671 NA18504,NA18853 nsv512651 22 23779387 23782679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625269 S 1 0 1 KIAA1671 1 esv24048 22 23779752 23782479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14308 S 451 0 4 KIAA1671 NA12004,NA12006,NA12287,NA12489 nsv511634 22 23779764 23794310 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626268 S 1 0 1 KIAA1671 1 nsv829131 22 23780695 23781390 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433388,nssv1430298 M 31 0 2 KIAA1671 AK14,NA18972 esv33826 22 23791550 23797572 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94524 S 51 0 1 KIAA1671 21932 esv270090 22 23797484 23797670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510237,essv2511463,essv2512409,essv2499437,essv2493378,essv2505014,essv2508852,essv2502800,essv2508753,essv2500391,essv2503299,essv2499939,essv2507490,essv2504854,essv2501837,essv2498047,essv2495069,essv2513032 M 157 18 0 Samples from several populations that are part of the HapMap project. KIAA1671 NA07051,NA10847,NA10851,NA11920,NA12043,NA12044,NA12776,NA12828,NA12878,NA12892,NA18532,NA18537,NA18542,NA18562,NA18638,NA19099,NA19239,NA19240 esv272960 22 23797534 23797652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579186 S 7 1 0 Samples from several populations that are part of the HapMap project. KIAA1671 NA19239 nsv3581 22 23819330 23833169 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7734 S 9 1 0 KIAA1671,LOC100128531 NA12156 dgv24e196 22 23842251 24129870 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422356,esv2422293,esv2422413,esv2422380,esv2422255 M 181 5 0 CRYBB2,CRYBB3,IGLL3P,KIAA1671,LRP5L ND00700,ND00940,ND01754,ND05093,ND05370 nsv834162 22 23875360 24039010 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455912 S 95 0 1 CRYBB2,CRYBB3,KIAA1671 nsv914638 22 23875612 23915047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544176 S 6533 1 0 KIAA1671 MS16286 nsv428388 22 23879817 24161195 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv453992 S 62 0 1 CRYBB2,CRYBB3,IGLL3P,KIAA1671,LRP5L NA19181 dgv1393e1 22 23879817 24376513 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14372,essv21848,essv22657,essv15835,essv5452,essv16687,essv21036,essv22459,essv10987,essv7775,essv24005,essv16412,essv12286,essv12013,essv6146,essv21235,essv24874,essv24234,essv10061,essv24403,essv9591,essv3435,essv21089,essv7864 M 271 0 0 ADRBK2,CRYBB2,CRYBB2P1,CRYBB3,IGLL3P,KIAA1671,LRP5L NA06991,NA07000,NA10854,NA10856,NA11830,NA11839,NA12707,NA12716,NA12752,NA12761,NA18507,NA18532,NA18542,NA18558,NA18632,NA18956,NA19099,NA19138,NA19139,NA19141,NA19142,NA19143,NA19223 nsv518136 22 23883479 23885948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695554 S 2026 0 1 KIAA1671 esv2042759 22 23905817 23906236 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839693 S 1 0 1 KIAA1671 NA18507 nsv191604 22 23906007 23906056 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210182 M 24 KIAA1671 nsv9887 22 23919150 23921402 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25355,nssv26001 M 31 0 2 Samples from several populations that are part of the HapMap project. KIAA1671 NA18563,NA18975 nsv469659 22 23928910 24092849 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649588 M 265 1 2 Samples from several populations that are part of the HapMap project. CRYBB2,CRYBB3,IGLL3P,LRP5L nsv9888 22 23930777 23973068 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28762 S 31 1 0 Samples from several populations that are part of the HapMap project. CRYBB2,CRYBB3 NA19221 dgv175e55 22 23937785 24292988 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34320,esv34452,esv2751944,esv2751960,esv2751951,esv2751954,esv35154,esv34331,esv34282,esv2751950,esv34375,esv34386,esv34404,esv34420,esv34668,esv34683,esv34840,esv34857,esv34934,esv34965,esv34990,esv35024,esv2751942,esv2751943,esv2751946,esv2751947,esv2751948,esv2751949,esv2751953,esv2751955,esv2751956,esv2751959,esv2751962 M 771 33 0 ADRBK2,CRYBB2,CRYBB2P1,IGLL3P,LRP5L BEC_101,BEC_106,BEC_131,BEC_236,BEC_379,BEC_387,BEC_511,BEC_562,BEC_630,BEC_725,BEC_745,BEC_793,NA06985,NA06991,NA10854,NA11839,NA12752,NA12761,NA18507,NA18532,NA18542,NA18558,NA18632,NA18956,NA18973,NA19099,NA19138,NA19139,NA19221,NA19223,SPC_124,SPC_162,SPC_86 dgv1394e1 22 23938162 24286907 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1324,essv25124,essv11851,essv15970,essv20716,essv5433,essv6859,essv20514,essv25148,essv8970,essv12086,essv19352,essv22344,essv22412,essv10505,essv21751,essv9530,essv7647,essv21959,essv20533,essv21880,essv21643,essv19073,essv11053,essv7996 M 271 0 0 CRYBB2,CRYBB2P1,IGLL3P,LRP5L NA06985,NA06991,NA07000,NA10856,NA10861,NA11830,NA11839,NA11995,NA12716,NA12752,NA12761,NA18542,NA18558,NA18632,NA18973,NA19099,NA19138,NA19139,NA19142,NA19143,NA19221,NA19223 nsv834163 22 23941648 24135099 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455913,nssv1455914 M 95 1 1 CRYBB2,IGLL3P,LRP5L esv23681 22 23949034 24258990 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15922 S 451 4 2 CRYBB2,CRYBB2P1,IGLL3P,LRP5L NA06985,NA07037,NA11894,NA11995,NA18909,NA19099 dgv575n27 22 23953323 24240667 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459770,nsv459775,nsv459748,nsv459776,nsv459800,nsv459778,nsv459854,nsv459787,nsv459756,nsv459777,nsv459782,nsv459755,nsv459788,nsv459767,nsv459694,nsv459743,nsv459779,nsv459736,nsv459763,nsv459766,nsv459732,nsv459786,nsv459781,nsv459784,nsv459802,nsv459734,nsv459761,nsv459794 M 1557 0 28 CRYBB2,CRYBB2P1,IGLL3P,LRP5L 1780846322_A,1780854235_A,1780854341_A,1780854445_A,1780854530_A,1780862399_A,1780862414_A,1780862460_A,1798860084_A,1798860565_A,HGDP00131,HGDP00192,HGDP00298,HGDP00526,HGDP00567,HGDP00583,HGDP00665,HGDP00689,HGDP00716,HGDP00731,HGDP00740,HGDP00903,HGDP00970,HGDP01047,HGDP01238,HGDP01417,NINDS_229,NINDS_35 dgv576n27 22 23953323 24288952 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459768,nsv459750,nsv459700,nsv459749,nsv459741,nsv459769,nsv459745,nsv459737,nsv459702,nsv459747,nsv459706,nsv459753,nsv459701,nsv459764,nsv459790,nsv459725,nsv459727,nsv459772,nsv459791,nsv459708,nsv459795,nsv459699,nsv459780,nsv459709,nsv459765,nsv459798,nsv459728,nsv459712,nsv459719,nsv459739,nsv459793,nsv459714,nsv459697,nsv459722,nsv459730,nsv459705,nsv459731,nsv459735,nsv459723,nsv459752,nsv459783,nsv459710,nsv459713,nsv459801,nsv459720,nsv459789,nsv459717,nsv459698,nsv459726,nsv459715,nsv459797,nsv459746,nsv459771,nsv459758,nsv459738,nsv459760,nsv459757,nsv459703,nsv459724,nsv459803,nsv459733,nsv459754,nsv459695,nsv459721,nsv459799,nsv459744,nsv459711,nsv459759 M 1557 68 0 CRYBB2,CRYBB2P1,IGLL3P,LRP5L 1780854123_A,1780854129_A,1780854198_A,1780854467_A,1780862101_A,1780862160_A,1780862196_A,1780862298_A,1780862356_A,1780862505_A,1780862584_A,1780862597_A,1782681169_A,1787431167_A,1798860592_A,HGDP00005,HGDP00015,HGDP00096,HGDP00141,HGDP00167,HGDP00213,HGDP00216,HGDP00234,HGDP00241,HGDP00264,HGDP00274,HGDP00313,HGDP00315,HGDP00330,HGDP00423,HGDP00545,HGDP00580,HGDP00804,HGDP00815,HGDP00819,HGDP00880,HGDP00938,HGDP00960,HGDP00966,HGDP00974,HGDP01029,HGDP01096,HGDP01193,HGDP01200,HGDP01201,HGDP01228,HGDP01229,HGDP01239,HGDP01245,HGDP01259,HGDP01270,HGDP01290,HGDP01334,HGDP01356,HGDP01369,HGDP01376,HGDP01377,HGDP01387,NINDS_123,NINDS_15,NINDS_169,NINDS_174,NINDS_195,NINDS_203,NINDS_209,NINDS_21,NINDS_210,NINDS_225 esv2204371 22 23958377 23958795 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750603 S 1 0 1 "" NA18507 dgv4914n71 22 23962266 24087268 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914640,nsv914639 M 6533 2 0 IGLL3P,LRP5L IS40762,IS41192 esv32748 22 23966762 24065400 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98902,essv100046 M 51 0 2 IGLL3P 21606,22086 nsv436354 22 23970592 24197005 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465768 S 2 0 1 Samples from several populations that are part of the HapMap project. CRYBB2P1,IGLL3P,LRP5L NA18505 dgv44n64 22 23970628 24240667 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv817980,nsv817979,nsv817982 M 112 4 0 CRYBB2P1,IGLL3P,LRP5L NA06985,NA06991,NA18542,NA18558 dgv4915n71 22 23970628 24254444 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914746,nsv914709,nsv914730,nsv914760,nsv914650,nsv914643,nsv914745,nsv914743,nsv914670,nsv914671,nsv914641,nsv914702,nsv914642,nsv914733 M 6533 0 22 CRYBB2P1,IGLL3P,LRP5L IS30081,IS31045,IS31634,IS31703,IS37992,IS39718,MS12823,MS16632,MS16711,MS18387,MS20618,SP50571,SP50936,SP52080,SP52082,SP52545,SP55774,SP55878,SP56319,SP56987,SP57254,SP58003 dgv577n27 22 23970628 24324013 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459704,nsv459792,nsv459742 M 1557 3 0 ADRBK2,CRYBB2P1,IGLL3P,LRP5L HGDP00698,HGDP01255,HGDP01257 nsv517205 22 23970628 24355558 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654847,nssv692127,nssv687177,nssv652560,nssv680127,nssv686793,nssv654009,nssv689000,nssv687820,nssv684029,nssv673053,nssv660962,nssv677095,nssv666481,nssv665971,nssv689220,nssv689898,nssv680153,nssv684745,nssv654627,nssv661415,nssv684319,nssv664356,nssv693037,nssv677476,nssv700151,nssv657257,nssv654259,nssv705590,nssv657398,nssv702381,nssv656011,nssv672531,nssv693856,nssv697028,nssv678688,nssv673005,nssv659804,nssv664408,nssv700084,nssv657937,nssv687008,nssv671428,nssv678172,nssv674415,nssv657281,nssv672509,nssv689289,nssv672320,nssv696936,nssv687410,nssv698888,nssv651783,nssv702137,nssv651985,nssv678224,nssv656980,nssv668559,nssv691806,nssv682522,nssv686263,nssv686140,nssv690196,nssv675834,nssv664597,nssv658950,nssv683930,nssv652745,nssv656286,nssv681721,nssv656123,nssv693260,nssv668791,nssv683713,nssv659454,nssv693603,nssv663401,nssv673208,nssv661072,nssv672738,nssv680212,nssv684242,nssv702380,nssv678884,nssv660198,nssv671268,nssv677873,nssv693230,nssv658540,nssv670966,nssv660183,nssv659116,nssv659720,nssv692633,nssv679256,nssv705963,nssv661387,nssv677453,nssv660516,nssv681554,nssv702909 M 2026 46 55 ADRBK2,CRYBB2P1,IGLL3P,LRP5L dgv176e55 22 23971025 24255078 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34702,esv34647,esv34201,esv34716,esv34758,esv34960,esv35060,esv2751945,esv2751957,esv2751958,esv2751961 M 771 0 11 CRYBB2P1,IGLL3P,LRP5L BEC_543,BEC_657,BEC_704,BEC_720,NA07000,NA10861,NA11830,NA12707,NA12716,NA19141,SPC_153 nsv9889 22 23979197 23989135 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26149 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv471189 22 23980405 24324013 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545520,nssv545539,nssv545534,nssv545535,nssv545536,nssv545522,nssv545527,nssv545523,nssv545533,nssv545517,nssv545518,nssv545538,nssv545528,nssv545525,nssv545524,nssv545541,nssv545519,nssv545537,nssv545516,nssv545542,nssv545529,nssv545531,nssv545530,nssv545540,nssv545526 M 443 21 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADRBK2,CRYBB2P1,IGLL3P,LRP5L HGDP00313,HGDP00315,HGDP00330,HGDP00453,HGDP00580,HGDP00595,HGDP00681,HGDP00698,HGDP00880,HGDP00938,HGDP00960,HGDP01029,HGDP01091,HGDP01200,HGDP01201,HGDP01229,HGDP01255,HGDP01257,HGDP01259,HGDP01270,HGDP01387 dgv4916n71 22 23980406 24105834 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914657,nsv914714,nsv914644,nsv914739 M 6533 0 5 IGLL3P,LRP5L IS38572,SP50101,SP50713,SP57226,SP81389 dgv4917n71 22 23980406 24145104 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914796,nsv914685,nsv914720,nsv914754,nsv914645,nsv914688,nsv914780,nsv914795,nsv914753,nsv914661,nsv914660,nsv914781,nsv914797,nsv914771,nsv914686,nsv914689,nsv914687,nsv914741,nsv914659 M 6533 37 0 IGLL3P,LRP5L IS30109,IS30340,IS30384,IS30407,IS30609,IS31553,IS31757,IS31915,IS32322,IS34996,IS35245,IS35565,IS36312,IS37645,IS38015,IS38037,IS38198,IS39026,IS39365,IS40003,IS41243,IS41839,MS10393,MS13502,MS23110,MS23376,SP50038,SP50580,SP51147,SP55138,SP56032,SP56330,SP56531,SP56832,SP56863,SP57404,SP58404 dgv4918n71 22 23980406 24258620 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914747,nsv914708,nsv914711,nsv914736,nsv914652,nsv914651,nsv914734,nsv914668,nsv914667,nsv914729,nsv914710,nsv914735,nsv914701,nsv914704,nsv914732,nsv914737 M 6533 136 72 CRYBB2P1,IGLL3P,LRP5L IS30054,IS30127,IS30146,IS30198,IS30228,IS30238,IS30610,IS30884,IS30899,IS31172,IS31307,IS31323,IS31373,IS31419,IS31564,IS31602,IS31804,IS31825,IS32724,IS32761,IS32871,IS33232,IS33491,IS33531,IS33544,IS33553,IS33575,IS33726,IS33771,IS33868,IS34185,IS34346,IS34353,IS34405,IS34416,IS34432,IS34572,IS34573,IS34698,IS34709,IS34756,IS34791,IS35167,IS35390,IS35447,IS36481,IS36550,IS36876,IS37029,IS37214,IS37247,IS37291,IS37325,IS37329,IS37713,IS37771,IS37974,IS38055,IS38110,IS38161,IS38251,IS38315,IS38378,IS38436,IS38444,IS38479,IS38492,IS38585,IS38612,IS38668,IS38846,IS39061,IS39250,IS39321,IS39352,IS39360,IS39530,IS39716,IS39832,IS39931,IS39958,IS39966,IS39999,IS40055,IS40230,IS40334,IS40653,IS40739,IS40828,IS40838,IS40950,IS40966,IS41042,IS41061,IS41094,IS41176,IS41404,IS41648,IS41687,IS41771,IS41831,IS41857,IS41892,IS41922,MS10065,MS10228,MS10301,MS10361,MS10441,MS10544,MS10549,MS10957,MS11883,MS11980,MS12088,MS12244,MS12572,MS12624,MS12782,MS12827,MS13030,MS13154,MS13240,MS13430,MS13487,MS13500,MS13527,MS14665,MS15813,MS16357,MS16373,MS16588,MS16786,MS16986,MS17271,MS17321,MS17503,MS17677,MS18104,MS18143,MS18176,MS18848,MS19276,MS19634,MS19700,MS20047,MS20254,MS20747,MS21022,MS22251,MS22645,MS22797,MS22959,MS23120,MS23194,MS23878,MS24020,MS24280,MS24747,MS25038,MS25139,MS25275,MS25814,SP50177,SP50709,SP51061,SP51102,SP51175,SP51338,SP51436,SP52025,SP52124,SP52131,SP52160,SP52308,SP52553,SP52651,SP53252,SP53392,SP53508,SP53602,SP53972,SP54030,SP54092,SP54635,SP54650,SP54812,SP55209,SP55287,SP55353,SP56085,SP56676,SP56758,SP56952,SP57367,SP57430,SP57665,SP57730,SP57774,SP58008,SP58536,SP81107,SP81108,SP81226,SP81240,SP81388,SP81488,SP81503 dgv4919n71 22 23980406 24258620 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914706,nsv914703,nsv914744,nsv914772,nsv914700,nsv914764,nsv914705,nsv914762,nsv914775,nsv914774,nsv914712,nsv914731,nsv914646,nsv914765,nsv914647,nsv914653,nsv914758,nsv914649,nsv914655,nsv914761,nsv914759,nsv914648,nsv914654,nsv914728,nsv914666,nsv914669,nsv914665,nsv914742,nsv914763,nsv914773,nsv914698,nsv914707,nsv914699,nsv914766 M 6533 71 0 CRYBB2P1,IGLL3P,LRP5L IS30435,IS30487,IS30837,IS31000,IS31194,IS31218,IS31359,IS31812,IS33763,IS34648,IS35114,IS35127,IS35231,IS35489,IS35982,IS36131,IS36600,IS36957,IS37144,IS38008,IS38012,IS38262,IS38341,IS38402,IS39438,IS39529,IS39817,IS40639,IS41308,IS41863,MS11061,MS11657,MS11867,MS13872,MS14851,MS15491,MS15515,MS16824,MS16885,MS17572,MS17605,MS18529,MS19068,MS19277,MS19721,MS20346,MS20987,MS21194,MS21905,MS22764,MS23703,MS25193,MS25617,MS25789,SP51089,SP51307,SP52264,SP52688,SP52700,SP53041,SP54626,SP54790,SP55165,SP55542,SP55558,SP55684,SP55996,SP56138,SP57831,SP58433,SP58553 dgv1395e1 22 23982260 24150838 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21984,essv791 M 271 0 0 IGLL3P,LRP5L NA11995,NA18956 dgv756n67 22 23983869 24249685 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829133,nsv829132 M 31 2 0 CRYBB2P1,IGLL3P,LRP5L NA18542,NA18973 dgv4920n71 22 23983992 24062697 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914713,nsv914656,nsv914675,nsv914672,nsv914674,nsv914673 M 6533 17 0 IGLL3P IS32736,IS34312,IS34760,IS35411,IS37342,IS38182,IS38268,MS11064,MS12154,MS19502,MS20690,MS22608,MS24077,MS25327,SP54095,SP55223,SP55843 dgv4921n71 22 23983992 24114405 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914718,nsv914740,nsv914658,nsv914752,nsv914770,nsv914683,nsv914719 M 6533 17 0 IGLL3P,LRP5L IS30138,IS34184,IS35506,IS37683,IS37918,IS40333,MS11298,MS16095,MS17527,MS18005,MS21275,MS22742,MS23957,SP51469,SP52270,SP55028,SP56467 dgv4922n71 22 23983992 24198241 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914722,nsv914694,nsv914693,nsv914756,nsv914725,nsv914723,nsv914783,nsv914782,nsv914785,nsv914724,nsv914697,nsv914784,nsv914801,nsv914786,nsv914727,nsv914664,nsv914757,nsv914798,nsv914799,nsv914800,nsv914695,nsv914662,nsv914663,nsv914810,nsv914809,nsv914691 M 6533 66 0 CRYBB2P1,IGLL3P,LRP5L IS30345,IS30547,IS30953,IS32015,IS32770,IS32864,IS33577,IS33590,IS34491,IS34518,IS34613,IS34804,IS35076,IS35111,IS35240,IS35475,IS36153,IS36475,IS36973,IS37543,IS37990,IS38067,IS38264,IS38445,IS38467,IS38995,IS39341,IS39678,IS40299,IS40471,IS40603,IS40680,IS40708,IS41340,IS41826,IS41979,MS10720,MS10797,MS11019,MS11565,MS14714,MS14809,MS14849,MS15509,MS15511,MS16023,MS16158,MS23330,MS23412,MS23490,MS23627,MS24244,SP51188,SP52518,SP52537,SP52719,SP53448,SP53705,SP54127,SP55789,SP56136,SP57489,SP58373,SP81273,SP81275,SP81408 esv32873 22 23984098 24254055 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101447,essv97473,essv93796,essv94084,essv93967,essv94350,essv96978,essv93099,essv101741,essv95809,essv94588,essv92818,essv96662,essv97182,essv99825,essv99830,essv99843,essv93499,essv94913,essv96570,essv99175,essv97674,essv100116,essv100622,essv100412,essv98406 M 51 21 2 CRYBB2P1,IGLL3P,LRP5L 21603,21616,21634,21802,21808,21817,21863,21909,21911,21932,21944,22011,22075,22086,22128,22231,22261,22275,22278,22286,22298,22300,22352 nsv436865 22 23985406 24226841 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465769 S 2 1 0 Samples from several populations that are part of the HapMap project. CRYBB2P1,IGLL3P,LRP5L NA18505 esv2751952 22 23988546 24480646 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983066,essv6986343,essv6986342,essv6983065,essv6983064 M 771 1 0 ADRBK2,CRYBB2P1,IGLL3P,LRP5L,MYO18B BEC_538 nsv9890 22 23989135 24253190 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27993,nssv28763,nssv26217,nssv27881,nssv26198,nssv26236,nssv27817,nssv26254 M 31 3 2 Samples from several populations that are part of the HapMap project. CRYBB2P1,IGLL3P,LRP5L NA11830,NA18502,NA18972,NA19132,NA19221 dgv4923n71 22 23991725 24099225 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914748,nsv914750,nsv914751,nsv914769,nsv914776,nsv914677,nsv914768,nsv914749,nsv914716,nsv914715,nsv914679,nsv914676,nsv914767,nsv914680,nsv914678 M 6533 21 0 IGLL3P,LRP5L IS31799,IS34612,IS35385,IS38116,IS38530,IS41981,MS10470,MS10645,MS12482,MS15145,MS15767,MS16926,MS23541,SP51254,SP51293,SP53572,SP53876,SP53994,SP54782,SP56079,SP57401 dgv4924n71 22 23991725 24113704 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914684,nsv914717,nsv914681,nsv914738,nsv914682 M 6533 58 19 IGLL3P,LRP5L IS30530,IS31022,IS31063,IS33372,IS33596,IS34108,IS34207,IS34981,IS35824,IS37969,IS38114,IS38193,IS38217,IS38525,IS38644,IS39564,IS39888,IS40643,IS41818,MS10168,MS10291,MS10658,MS10825,MS11054,MS11257,MS11494,MS11550,MS11552,MS12027,MS12510,MS13148,MS14247,MS14345,MS15347,MS15925,MS16124,MS16611,MS16697,MS16852,MS17745,MS18112,MS18756,MS20997,MS21162,MS21315,MS21460,MS21732,MS23189,MS23983,MS24248,MS24329,MS24337,MS24437,MS24444,MS24498,MS24792,MS25345,MS25653,MS25774,MS25903,MS25983,MS26049,SP50522,SP51200,SP51234,SP52428,SP52904,SP53259,SP54007,SP55107,SP56381,SP56543,SP57042,SP57951,SP81131,SP81202,SP81276 nsv459716 22 23991725 24173884 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536434 S 1557 1 0 IGLL3P,LRP5L NINDS_39 dgv4925n71 22 23991725 24181035 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914721,nsv914726,nsv914690 M 6533 0 3 CRYBB2P1,IGLL3P,LRP5L MS16208,MS22343,SP56234 dgv4926n71 22 23991725 24181035 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914696,nsv914755,nsv914692 M 6533 15 4 CRYBB2P1,IGLL3P,LRP5L IS30316,IS30480,IS30993,IS34684,IS37172,IS37766,IS38333,IS39316,IS40730,IS40840,IS41284,IS41452,MS14842,MS15232,MS21525,MS22000,SP52893,SP55156,SP57148 nsv433458 22 23991725 24240667 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463339 S 9 1 0 Samples from several populations that are part of the HapMap project. CRYBB2P1,IGLL3P,LRP5L NA18956 dgv45n64 22 23991725 24254444 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv817981,nsv817985 M 112 0 3 CRYBB2P1,IGLL3P,LRP5L NA10861,NA11995,NA19141 esv2421729 22 23993985 24248709 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112651,essv5054063,essv5094797,essv5062607,essv5026933,essv5098137,essv5044050,essv5159822,essv5083502,essv5089561,essv5136856,essv5091268,essv5077477,essv5148919,essv5103110,essv5040778,essv5156736,essv5048173,essv5139816,essv5028550,essv5141179,essv5058102,essv5156156,essv5137524,essv5043070,essv5141045,essv5121936,essv5025690,essv5069725,essv5021721,essv5093431,essv5110733,essv5056471,essv5160051,essv5046615,essv5159779,essv5085353,essv5144310,essv5147785,essv5026671,essv5048498,essv5075388,essv5056652,essv5073991,essv5127930,essv5071339,essv5157525,essv5159294,essv5016003,essv5003068,essv5138018,essv5003481,essv5050455,essv5093201,essv5135056,essv5122919,essv5116949,essv5046458,essv5122461,essv5098245,essv5106257,essv5128851,essv5045443,essv5086381,essv5016199,essv5027380,essv5074250,essv5116688,essv5024952,essv5122941,essv5142317,essv5040781,essv5074683,essv5140356,essv5058550,essv5078516,essv5120791,essv5085933,essv5105554,essv5152270,essv5119708,essv5093952,essv5053142,essv5005286,essv5037341,essv5073935,essv5070781,essv5079917,essv5023833,essv5107418,essv5010941,essv5113065,essv5048645,essv5126903,essv5146123,essv5146120,essv5048205,essv5004778,essv5039879,essv5099639 M 1184 62 38 CRYBB2P1,IGLL3P,LRP5L NA06985,NA06991,NA06995,NA07000,NA07037,NA10854,NA10856,NA10861,NA10864,NA11830,NA11839,NA11894,NA11995,NA12707,NA12716,NA12752,NA12761,NA12843,NA17962,NA17975,NA17979,NA18117,NA18139,NA18147,NA18159,NA18507,NA18532,NA18542,NA18558,NA18595,NA18599,NA18632,NA18642,NA18749,NA18909,NA18911,NA18956,NA18973,NA19027,NA19031,NA19036,NA19099,NA19107,NA19109,NA19118,NA19138,NA19139,NA19141,NA19142,NA19143,NA19174,NA19181,NA19183,NA19221,NA19223,NA19307,NA19360,NA19383,NA19430,NA19467,NA19657,NA19681,NA19683,NA19723,NA19770,NA19916,NA19918,NA20129,NA20359,NA20510,NA20539,NA20768,NA20795,NA20796,NA20797,NA20810,NA20859,NA20889,NA20906,NA20907,NA21102,NA21320,NA21355,NA21363,NA21365,NA21390,NA21415,NA21424,NA21434,NA21454,NA21457,NA21479,NA21480,NA21523,NA21583,NA21600,NA21683,NA21685,NA21741,NA21768 nsv442794 22 23993985 24248712 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CRYBB2P1,IGLL3P,LRP5L nsv471190 22 23994408 24240667 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545555,nssv545547,nssv545545,nssv545549,nssv545550,nssv545548,nssv545544,nssv545546,nssv545553,nssv545552,nssv545551 M 443 0 11 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CRYBB2P1,IGLL3P,LRP5L HGDP00298,HGDP00560,HGDP00562,HGDP00564,HGDP00583,HGDP00689,HGDP00716,HGDP00903,HGDP00916,HGDP00970,HGDP01417 nsv817983 22 23994408 24240667 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416995,nssv1416996,nssv1416405,nssv1418243,nssv1417085 M 112 2 3 CRYBB2P1,IGLL3P,LRP5L NA07000,NA19138,NA19139,NA19142,NA19143 nsv507929 22 23996786 24002786 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621979 S 4 1 0 "" NA10860 nsv514967 22 24007318 24241586 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628372 S 1414 0 0 CRYBB2P1,IGLL3P,LRP5L nsv436347 22 24011914 24310850 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465770 S 2 0 1 Samples from several populations that are part of the HapMap project. ADRBK2,CRYBB2P1,IGLL3P,LRP5L NA18505 nsv914777 22 24016040 24099225 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594668,nssv1525834,nssv1596019,nssv1536238,nssv1545647,nssv1560451,nssv1575352,nssv1558689,nssv1532931,nssv1504586,nssv1588319,nssv1535143 M 6533 11 1 IGLL3P,LRP5L IS33719,IS38179,IS39991,IS40387,MS10946,MS12039,MS12656,MS16863,MS23488,MS24483,SP52607,SP56841 dgv4927n71 22 24016040 24113704 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914779,nsv914778,nsv914794,nsv914793,nsv914792,nsv914808,nsv914814 M 6533 20 0 IGLL3P,LRP5L IS30432,IS37632,IS38542,IS38592,IS40226,IS40416,IS41868,MS11015,MS12017,MS12539,MS13511,MS13517,MS14702,MS14764,MS16558,SP52759,SP54456,SP54469,SP57728,SP58465 dgv4928n71 22 24016040 24258620 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914813,nsv914835,nsv914824,nsv914812,nsv914807,nsv914816,nsv914803,nsv914821,nsv914789,nsv914788,nsv914787,nsv914790,nsv914791,nsv914834,nsv914804,nsv914805,nsv914815,nsv914802,nsv914817,nsv914819,nsv914820,nsv914806,nsv914811,nsv914822,nsv914837,nsv914836 M 6533 42 0 CRYBB2P1,IGLL3P,LRP5L IS31563,IS33745,IS33768,IS33832,IS34066,IS34508,IS34821,IS36170,IS36533,IS36722,IS37817,IS38143,IS38182,IS38386,IS38694,IS39119,IS39503,IS39792,IS39886,IS40192,IS40752,IS40955,IS41113,IS41263,MS10064,MS11271,MS11307,MS12138,MS12860,MS13025,MS13813,MS15788,MS21258,MS22787,MS24624,MS24951,SP50017,SP50183,SP51355,SP52165,SP54684,SP56022 esv2054924 22 24028441 24028820 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596755 S 1 0 1 "" NA18507 nsv191221 22 24028542 24028685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209799 M 24 "" nsv459853 22 24029607 24091936 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536523 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGLL3P,LRP5L HGDP00562 nsv834164 22 24037041 24204902 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455915,nssv1455916 M 95 1 1 CRYBB2P1,IGLL3P,LRP5L nsv914818 22 24037443 24165514 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564467 S 6533 1 0 IGLL3P,LRP5L IS30218 nsv437190 22 24037472 24078718 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467071 S 60 0 1 Samples from several populations that are part of the HapMap project. IGLL3P,LRP5L NA10856 dgv177e55 22 24049246 24249777 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34480,esv34249,esv35068,esv35149 M 771 0 4 CRYBB2P1,LRP5L NA10856,NA11995,NA19142,NA19143 nsv459855 22 24053300 24236803 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536525 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CRYBB2P1,LRP5L HGDP00023 esv2496250 22 24055310 24245227 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293548 S 1 1 0 CRYBB2P1,LRP5L NA18507 nsv469622 22 24055619 24209526 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649547 M 265 6 4 Samples from several populations that are part of the HapMap project. CRYBB2P1,LRP5L nsv821696 22 24056060 24286409 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421334 S 31 1 0 CRYBB2P1,LRP5L nsv459856 22 24056992 24156066 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536526 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRP5L HGDP00564 dgv4929n71 22 24056992 24181035 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914823,nsv914826,nsv914832,nsv914840,nsv914831,nsv914839,nsv914838,nsv914833 M 6533 17 0 CRYBB2P1,LRP5L IS30221,IS30284,IS31189,IS32704,IS33027,IS35261,IS37342,IS37573,IS38122,IS38141,IS38371,IS38624,IS39102,IS40031,IS40635,MS18288,MS19703 nsv914825 22 24061233 24099225 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595508,nssv1564172 M 6533 2 0 LRP5L IS30174,IS40240 dgv4930n71 22 24061233 24254444 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914847,nsv914842,nsv914841,nsv914846,nsv914827,nsv914843 M 6533 6 0 CRYBB2P1,LRP5L IS31211,IS36050,IS38309,MS16248,MS22644,SP54095 nsv829134 22 24061529 24163299 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422797 S 31 1 0 LRP5L NA18969 dgv4931n71 22 24062697 24135224 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914844,nsv914828 M 6533 2 0 LRP5L IS41041,SP55843 dgv578n27 22 24062697 24240667 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459858,nsv459857,nsv459859 M 1557 0 3 CRYBB2P1,LRP5L HGDP00103,HGDP00671,HGDP00952 dgv4932n71 22 24065120 24135224 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914829,nsv914830 M 6533 0 2 LRP5L MS17208,MS18276 esv2163654 22 24074823 24075235 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921219 S 1 0 1 "" NA18507 nsv438341 22 24080873 24100473 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470949,nssv470948,nssv470947 M 269 0 2 Samples from several populations that are part of the HapMap project. LRP5L NA12707,NA12716 nsv914845 22 24083387 24091936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502610 S 6533 1 0 LRP5L SP51293 nsv437193 22 24086674 24088790 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467074 S 60 0 1 Samples from several populations that are part of the HapMap project. LRP5L NA12707 dgv68n17 22 24086674 24105535 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437194,nsv437192 M 60 0 2 LRP5L NA10856,NA12707 nsv820110 22 24087756 24089559 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419331 S 2 1 0 LRP5L AK1 dgv4933n71 22 24105834 24178811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914853,nsv914849,nsv914848,nsv914852 M 6533 5 0 CRYBB2P1,LRP5L IS33372,IS35177,MS16558,SP53572,SP54007 dgv4934n71 22 24105834 24254444 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914868,nsv914851,nsv914855,nsv914858,nsv914850,nsv914859 M 6533 9 0 CRYBB2P1,LRP5L IS33023,IS34400,IS38268,IS38525,IS39914,IS41887,IS41926,MS12656,MS23541 dgv4935n71 22 24114405 24254444 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914863,nsv914880,nsv914869,nsv914879,nsv914854 M 6533 26 8 CRYBB2P1 IS30764,IS34108,IS34184,IS34612,IS34981,IS38116,IS38464,IS38644,IS41818,IS41860,IS41971,MS10470,MS11298,MS11494,MS12154,MS12482,MS17745,MS18414,MS20997,MS21460,MS23376,MS23957,MS23983,MS24329,MS24337,MS24498,MS24528,MS25223,MS25327,MS25963,SP50713,SP51200,SP51293,SP81276 nsv914856 22 24122735 24181035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587803 S 6533 0 1 CRYBB2P1 IS38114 dgv4936n71 22 24122735 24208614 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914865,nsv914857 M 6533 2 0 CRYBB2P1 IS35411,SP52497 dgv4937n71 22 24122735 24254444 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914866,nsv914870,nsv914861,nsv914864,nsv914867,nsv914862,nsv914860 M 6533 0 10 CRYBB2P1 IS30530,IS33596,IS34207,IS38572,IS39564,MS11257,SP52904,SP56543,SP57226,SP81389 nsv438342 22 24128632 24136949 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470950,nssv470952 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10856,NA11830 dgv4938n71 22 24137004 24240315 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914877,nsv914872,nsv914876,nsv914875,nsv914873,nsv914871,nsv914883 M 6533 12 0 CRYBB2P1 IS37918,IS41859,MS10658,MS11505,MS13517,MS14247,MS15925,MS22765,MS25774,SP51254,SP56467,SP57401 nsv436355 22 24142076 24286241 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465771 S 2 0 1 Samples from several populations that are part of the HapMap project. CRYBB2P1 NA18505 dgv4939n71 22 24145104 24240667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914874,nsv914878 M 6533 0 2 CRYBB2P1 MS16697,MS16852 dgv4940n71 22 24145104 24258620 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914881,nsv914891,nsv914885,nsv914892,nsv914884,nsv914896 M 6533 10 0 CRYBB2P1 IS30308,IS30384,IS36726,MS16095,MS21162,MS22742,MS25653,SP53876,SP54456,SP57197 nsv914882 22 24145104 24272595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585720 S 6533 1 0 CRYBB2P1 IS37632 nsv829135 22 24149002 24152321 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437195 S 31 1 0 "" NA18542 nsv914888 22 24159084 24239811 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567263,nssv1559667 M 6533 1 1 CRYBB2P1 IS31063,MS24077 dgv4941n71 22 24159084 24244593 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914887,nsv914889,nsv914890,nsv914894,nsv914893,nsv914886,nsv914895 M 6533 11 0 CRYBB2P1 IS38592,IS40240,IS41981,MS10825,MS12539,MS16863,MS20690,MS25983,SP55028,SP81131,SP81202 nsv469691 22 24183514 24348090 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649623 M 265 4 4 Samples from several populations that are part of the HapMap project. ADRBK2,CRYBB2P1 nsv471598 22 24183515 24348090 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550109,nssv550106,nssv550105,nssv550108,nssv550107 M 48 4 1 ADRBK2,CRYBB2P1 NA10469,NA10493,NA15731,NA17016,NA17020 dgv4942n71 22 24193456 24244593 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv914907,nsv914908,nsv914897,nsv914906 M 6533 12 4 "" IS30109,IS30174,IS30316,IS38067,IS38542,IS40730,MS10720,MS14345,MS16023,MS24792,MS26049,SP51147,SP51469,SP53705,SP56234,SP57951 dgv4943n71 22 24193456 24258620 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914898,nsv914914,nsv914923,nsv914924,nsv914909,nsv914919 M 6533 30 0 "" IS30432,IS30480,IS31283,IS32810,IS34491,IS34684,IS34762,IS34996,IS35245,IS35506,IS37683,IS38530,IS39678,IS40003,IS40840,MS11565,MS14764,MS14842,MS16158,MS23627,MS25903,SP50580,SP51234,SP52428,SP54782,SP55223,SP57042,SP57148,SP58404,SP81275 nsv437851 22 24196225 24254444 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467732 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 dgv4944n71 22 24198241 24239811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914904,nsv914903,nsv914905,nsv914900,nsv914899 M 6533 14 0 "" IS30221,IS30224,IS30590,IS33372,IS33508,IS35076,IS40635,IS40680,MS12017,MS12039,SP53994,SP54007,SP55789,SP56863 dgv4945n71 22 24198241 24240667 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914901,nsv914911,nsv914902,nsv914910 M 6533 0 5 "" IS38114,MS16208,MS22343,SP50101,SP52893 nsv437195 22 24199206 24238441 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467076 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12707 dgv4946n71 22 24202837 24244593 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914922,nsv914918,nsv914916,nsv914913,nsv914912,nsv914920,nsv914921,nsv914917 M 6533 18 0 "" IS39991,IS40708,MS10291,MS10311,MS11064,MS14849,MS18112,MS18756,MS21525,MS24651,SP51188,SP52497,SP52518,SP52719,SP53448,SP56832,SP57489,SP58465 dgv4947n71 22 24202837 24288952 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914915,nsv914935,nsv914949 M 6533 3 0 "" IS39341,IS40429,SP56032 dgv4948n71 22 24215188 24240667 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914938,nsv914942,nsv914931,nsv914928,nsv914936,nsv914932,nsv914937,nsv914941,nsv914944,nsv914943,nsv914945,nsv914925 M 6533 25 0 "" IS30345,IS30993,IS31022,IS31971,IS35111,IS35411,IS37766,IS37976,IS38101,IS40387,MS10168,MS11015,MS16611,MS16917,MS19703,MS22644,MS23412,MS24774,SP52607,SP53572,SP55156,SP55843,SP56079,SP56136,SP58373 dgv4949n71 22 24215188 24244593 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914946,nsv914933,nsv914929,nsv914926,nsv914939 M 6533 48 0 "" IS30407,IS30609,IS30953,IS31799,IS32322,IS33719,IS34518,IS34804,IS35177,IS36312,IS36475,IS37172,IS37342,IS37969,IS40471,IS40603,IS40851,IS41041,IS41452,IS41826,IS41868,MS10645,MS11054,MS11550,MS11552,MS13148,MS14809,MS15511,MS16926,MS18005,MS18288,MS19502,MS19930,MS21732,MS23189,MS23488,MS24393,MS24971,MS25833,SP50522,SP52270,SP52759,SP54469,SP55146,SP56330,SP57728,SP81273,SP81408 dgv4950n71 22 24215188 24258620 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914930,nsv914947,nsv914934,nsv914948,nsv914927,nsv914940 M 6533 33 0 "" IS30138,IS31553,IS31757,IS34312,IS35240,IS35385,IS35475,IS37645,IS38179,IS38198,IS38217,IS38333,IS39102,IS39888,IS40299,IS40333,IS40444,IS41243,IS41284,MS11019,MS14938,MS22608,MS23330,MS23490,MS24244,MS24437,MS24444,MS24483,SP54127,SP55107,SP56381,SP56841,SP57478 nsv914950 22 24227330 24244593 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543276,nssv1524649,nssv1555339 M 6533 3 0 "" MS16124,MS21275,SP55138 nsv914951 22 24227330 24258620 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499251 S 6533 1 0 "" SP50038 essv24944 22 24234257 24237148 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12707 nsv438343 22 24235668 24238616 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470955,nssv470954,nssv470956,nssv470953 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA12707,NA12716,NA19141,NA19142 nsv914952 22 24244593 24334249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552030 S 6533 1 0 ADRBK2 MS19119 nsv9892 22 24284985 24292054 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28764 S 31 1 0 Samples from several populations that are part of the HapMap project. ADRBK2 NA19221 esv26366 22 24286792 24295135 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16777 S 451 1 0 ADRBK2 NA06985 nsv9893 22 24291498 24300815 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27888 S 31 1 0 Samples from several populations that are part of the HapMap project. ADRBK2 NA18972 dgv1396e1 22 24465889 24480584 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21886,esv1391 M 271 0 0 MYO18B NA06991 esv275572 22 24516375 24525237 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586051,essv2585744 M 1250 1 1 MIR1302-1,MYO18B esv2593623 22 24545884 24546202 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209130 S 1 1 0 MIR1302-1,MYO18B NA18507 nsv513586 22 24545908 24546021 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626838 S 1 1 0 MIR1302-1,MYO18B 1 nsv914953 22 24611210 24761850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597659 S 6533 1 0 MIR1302-1,MYO18B IS41202 nsv524218 22 24830417 24834839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700106 S 2026 0 1 MIR1302-1 nsv834165 22 24838846 25017775 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455918,nssv1455917 M 95 1 1 MIR1302-1,SEZ6L nsv469709 22 24843138 25024294 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649730 M 265 0 3 Samples from several populations that are part of the HapMap project. MIR1302-1,SEZ6L nsv3582 22 24891269 24924931 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5928 S 9 1 0 MIR1302-1,SEZ6L NA19129 nsv3583 22 24915404 24927876 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7735 S 9 0 1 MIR1302-1,SEZ6L NA12156 nsv829136 22 24985971 24986692 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423089 S 31 0 1 MIR1302-1,SEZ6L NA18552 esv1931124 22 25000095 25000550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574488 S 1 0 1 MIR1302-1,SEZ6L NA18507 nsv829137 22 25098703 25099216 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438556 S 31 0 1 MIR1302-1,SEZ6L NA18951 esv1009729 22 25153337 25153612 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576115 S 3 0 1 "" HuRef esv999415 22 25155620 25156106 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587015 S 3 0 1 ASPHD2 HuRef nsv519472 22 25184441 25189942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696871 S 2026 0 1 HPS4 dgv1397e1 22 25228499 25359896 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17844,esv141 M 271 0 0 CRYBA4,CRYBB1,MIR548J,TFIP11,TPST2 NA10831 nsv914954 22 25240095 25255953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581513 S 6533 0 1 TPST2 IS35605 nsv914955 22 25250270 25255953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561169 S 6533 0 1 TPST2 MS24868 esv273297 22 25327580 25327934 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580320,essv2580877 M 7 2 0 Samples from several populations that are part of the HapMap project. CRYBB1 NA12891,NA19238 esv267667 22 25327590 25327916 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575867,essv2521392,essv2556464,essv2577440,essv2570521,essv2544273,essv2553772,essv2554808,essv2528505,essv2557020,essv2552451,essv2569373,essv2558737,essv2537080,essv2561643,essv2544723,essv2562985,essv2523731,essv2552953,essv2540604,essv2564865,essv2534506,essv2519682,essv2560054,essv2522292,essv2565964,essv2531069,essv2528669,essv2541689,essv2563910,essv2553114,essv2572266,essv2559158,essv2566981,essv2550957,essv2569018,essv2543474,essv2556289,essv2527963,essv2578408,essv2555339,essv2555549,essv2555882,essv2534332,essv2573613,essv2571888,essv2525775,essv2529820,essv2575081,essv2538781,essv2560685,essv2572649,essv2549821,essv2546045,essv2574137 M 157 55 0 Samples from several populations that are part of the HapMap project. CRYBB1 NA11830,NA11894,NA11994,NA12043,NA12044,NA12414,NA12763,NA12872,NA12891,NA18501,NA18502,NA18508,NA18516,NA18517,NA18523,NA18526,NA18532,NA18537,NA18542,NA18552,NA18558,NA18561,NA18566,NA18570,NA18571,NA18572,NA18573,NA18579,NA18592,NA18603,NA18605,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18940,NA18943,NA18945,NA18956,NA18959,NA18964,NA18973,NA18980,NA19093,NA19102,NA19108,NA19116,NA19143,NA19225,NA19239,NA19240 nsv9894 22 25356360 25362760 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27975 S 31 1 0 Samples from several populations that are part of the HapMap project. CRYBA4 NA18517 esv272162 22 25369813 25369898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581249 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1004142 22 25495222 25502021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563614 S 3 0 1 "" HuRef esv2558081 22 25497322 25500415 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358062 S 1 0 1 "" NA18507 esv2407480 22 25497879 25499996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719584 S 1 0 1 "" NA18507 nsv512652 22 25497888 25499840 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625270 S 1 0 1 "" 1 esv4774 22 25498044 25499840 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27215 S 1 0 1 Single Asian sample YH "" YH esv996135 22 25498072 25499797 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581893 S 3 0 1 "" HuRef esv1328032 22 25498076 25499802 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057203 S 2 0 1 "" HuRef esv8251 22 25498080 25499786 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30692 S 1 0 1 "" SJK nsv514968 22 25501602 25501928 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627207 S 1414 0 0 "" nsv525941 22 25571464 25576070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702147 S 2026 0 1 "" esv34168 22 25619097 26008031 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv995430 22 25631153 25634713 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586486 S 3 1 0 "" HuRef nsv510805 22 25632072 25730631 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622803 S 4 0 1 "" NA18994 esv2392782 22 25753532 25753903 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796898 S 1 0 1 "" NA18507 esv1002579 22 25753654 25753774 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576962 S 3 0 1 "" HuRef esv1531648 22 25753661 25753783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743972 S 2 0 1 "" HuRef nsv3584 22 25826252 25860959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1641 S 9 1 0 "" NA19240 nsv528403 22 25828426 25832567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704993 S 2026 0 1 "" esv270229 22 25880757 25881107 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512538,essv2493585,essv2507340,essv2506926,essv2499021,essv2510895 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18517,NA18912,NA19102,NA19114,NA19116 nsv526167 22 25943130 25946264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702427 S 2026 0 1 "" nsv191325 22 25947129 25947270 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209903 M 24 "" nsv834166 22 25958570 26144359 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455919 S 95 1 0 "" nsv520935 22 25982075 25982289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693231,nssv679645,nssv677985 M 2026 0 3 "" nsv522487 22 25985945 25987544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705854 S 2026 0 1 "" nsv829138 22 26011156 26012264 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423658 S 31 0 1 "" NA18547 esv21561 22 26034015 26034564 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13660 S 451 1 0 "" NA12044 esv2234420 22 26050762 26051150 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769194 S 1 0 1 "" NA18507 nsv471191 22 26060109 26116725 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545556,nssv545557 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00315,HGDP01320 nsv834167 22 26088395 26240985 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455920 S 95 1 0 "" nsv459864 22 26090086 26195344 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536531 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01320 nsv3585 22 26123953 26126164 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3080 S 9 1 0 "" NA18555 esv2382729 22 26127070 26127506 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656649 S 1 0 1 "" NA18507 nsv471192 22 26151656 26195344 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545558 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01320 nsv459865 22 26182183 26197567 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536532 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01230 nsv834168 22 26189692 26391869 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455921 S 95 0 1 "" nsv521680 22 26274404 26276986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698298 S 2026 0 1 "" nsv914956 22 26323597 26380390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547100 S 6533 0 1 "" MS17208 esv995694 22 26337120 26337120 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582737 S 3 1 0 "" HuRef nsv191530 22 26337134 26337134 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210108 M 24 "" esv1035015 22 26337221 26337221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103770 S 2 1 0 "" HuRef nsv914957 22 26426963 26433259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499480 S 6533 0 1 "" SP50110 nsv829139 22 26435739 26436429 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423670 S 31 0 1 "" NA18547 esv2453489 22 26451293 26452027 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329353 S 1 1 0 "" NA18507 nsv513587 22 26451440 26451600 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626839 S 1 1 0 "" 1 dgv757n67 22 26460641 26462136 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829140,nsv829143 M 31 0 4 "" AK18,AK6,NA18552,NA18969 esv6404 22 26460767 26462230 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28845 S 1 0 1 "" SJK esv2056669 22 26496479 26496914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4561498 S 1 0 1 MN1 NA18507 nsv829144 22 26502266 26539317 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422841 S 31 1 0 MN1 NA18969 nsv518700 22 26518203 26533750 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696150 S 2026 1 0 MN1 esv2210205 22 26519132 26519575 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725866 S 1 0 1 MN1 NA18507 nsv829145 22 26520900 26537081 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430299 S 31 1 0 MN1 AK14 nsv829146 22 26522430 26527955 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434136 S 31 1 0 MN1 NA18526 esv1286347 22 26531759 26531759 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613760 S 2 1 0 "" HuRef nsv3586 22 26536616 26569025 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4581 S 9 1 0 MIR548AM NA12878 nsv522306 22 26708472 26732624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694056 S 2026 0 1 MIR548AM,TTC28,TTC28-AS1 nsv829147 22 26969636 26970341 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423682 S 31 0 1 MIR548AM,TTC28 NA18547 nsv526760 22 27036220 27049656 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703110 S 2026 0 1 MIR548AM,TTC28 esv271686 22 27106009 27106258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511057,essv2495476,essv2504447,essv2505142,essv2508026,essv2508036,essv2501709,essv2513203,essv2508354,essv2507715,essv2503806,essv2508905,essv2500267,essv2502797 M 157 14 0 Samples from several populations that are part of the HapMap project. TTC28 NA11831,NA11919,NA11993,NA11995,NA12003,NA12045,NA12144,NA12249,NA12749,NA12751,NA12761,NA12878,NA12891,NA12892 esv272872 22 27106014 27106112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580104,essv2579855,essv2579260,essv2579387 M 7 4 0 Samples from several populations that are part of the HapMap project. TTC28 NA12878,NA12892,NA19239,NA19240 nsv3588 22 27304792 27337475 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6979 S 9 1 0 TTC28 NA12156 nsv459867 22 27323183 27439036 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536533 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHEK2,TTC28 HGDP00144 nsv9895 22 27359961 27514277 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26764,nssv26580 M 31 1 1 Samples from several populations that are part of the HapMap project. CCDC117,CHEK2,HSCB,TTC28 NA18537,NA19144 esv269768 22 27369138 27369293 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496703,essv2493810,essv2498415,essv2495716,essv2503086,essv2497976,essv2506890,essv2506648,essv2497543,essv2499805 M 157 10 0 Samples from several populations that are part of the HapMap project. TTC28 NA11894,NA18517,NA18858,NA18916,NA18943,NA18945,NA19102,NA19108,NA19147,NA19225 nsv525906 22 27369427 27369615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702110 S 2026 0 1 TTC28 nsv829148 22 27388867 27396285 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437910 S 31 0 1 TTC28 NA18949 nsv819641 22 27392137 27396091 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419593 S 2 0 1 TTC28 AK1 dgv758n67 22 27395128 27396285 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829151,nsv829149,nsv829150 M 31 0 18 TTC28 AK12,AK14,AK16,AK18,AK6,NA18526,NA18537,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18973 esv993498 22 27395128 27398162 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586913 S 3 1 0 TTC28 HuRef nsv829152 22 27395128 27398619 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436302 S 31 0 1 TTC28 NA18566 esv22533 22 27396121 27432976 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17527 S 451 6 0 CHEK2,TTC28 NA12004,NA15510,NA18502,NA18861,NA18907,NA19240 nsv834169 22 27425446 27633929 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455922,nssv1455923 M 95 0 2 CCDC117,CHEK2,HSCB,XBP1,ZNRF3 nsv517951 22 27435558 27465889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695363 S 2026 0 1 CHEK2 nsv516312 22 27483759 27490314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688426,nssv667504 M 2026 0 2 "" esv2430624 22 27507114 27508745 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266282 S 1 0 1 CCDC117 NA18507 esv2307652 22 27507124 27507718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989934 S 1 0 1 CCDC117 NA18507 esv4499 22 27507233 27507687 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26940 S 1 0 1 Single Asian sample YH CCDC117 YH esv7361 22 27507308 27507641 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29802 S 1 0 1 CCDC117 SJK esv1361730 22 27507327 27507644 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604937 S 2 0 1 CCDC117 HuRef esv2496014 22 27507328 27507644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192617 S 1 0 1 CCDC117 NA18507 nsv3589 22 27595164 27618935 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7737 S 9 0 1 ZNRF3 NA12156 esv26777 22 27713848 27716970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16903 S 451 0 1 ZNRF3 NA18502 nsv524259 22 27797221 27812221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700156 S 2026 0 1 KREMEN1 nsv519517 22 27807841 27812221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661686,nssv679878,nssv687500,nssv685378,nssv691915,nssv656591 M 2026 0 6 KREMEN1 esv2128713 22 27845759 27846201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558540 S 1 0 1 KREMEN1 NA18507 esv24546 22 27845970 27846620 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15705 S 451 0 7 KREMEN1 NA07037,NA07045,NA11894,NA11931,NA18858,NA19190,NA19240 nsv524483 22 27855126 27960337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700421 S 2026 0 1 EMID1,KREMEN1 nsv817986 22 27870297 27898963 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416020 S 112 0 1 KREMEN1 NA12750 nsv914958 22 27916058 27950599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510447 S 6533 0 1 EMID1 SP54956 nsv522714 22 27942508 27960337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698344 S 2026 0 1 EMID1 nsv829154 22 27947485 28054001 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422864 S 31 1 0 AP1B1,EMID1,EWSR1,GAS2L1,RASL10A,RHBDD3 NA18969 nsv834171 22 27956402 28159844 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455924 S 95 0 1 AP1B1,EMID1,EWSR1,GAS2L1,MIR3653,RASL10A,RHBDD3,SNORD125 nsv436349 22 27962636 27968282 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465772 S 2 0 1 Samples from several populations that are part of the HapMap project. EMID1 NA18505 esv22026 22 27963118 27965222 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15792 S 451 0 3 EMID1 NA18508,NA18517,NA19147 esv1772608 22 27965896 27965948 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725183 S 2 0 1 EMID1 HuRef esv275243 22 27968470 27972365 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585647,essv2585261 M 1250 1 1 EMID1 nsv519651 22 27980905 27980993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694340 S 2026 0 1 EMID1 nsv829155 22 27994396 28054001 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435622 S 31 0 1 AP1B1,EWSR1,GAS2L1,RASL10A NA18942 esv21927 22 28010283 28011805 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19640 S 451 0 6 EWSR1 NA18505,NA18916,NA19114,NA19129,NA19147,NA19190 esv2169204 22 28025811 28026217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564598 S 1 0 1 EWSR1 NA18507 esv991613 22 28025974 28026043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568526 S 3 0 1 EWSR1 HuRef dgv4951n71 22 28026438 28044069 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914959,nsv914960 M 6533 0 3 EWSR1,GAS2L1,RASL10A SP54043,SP54956,SP54988 dgv4952n71 22 28085888 28153768 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914962,nsv914961 M 6533 2 0 AP1B1 SP52122,SP56108 esv2580719 22 28089273 28146494 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288411 S 1 0 1 AP1B1 NA18507 nsv436866 22 28090719 28140433 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465773 S 2 1 0 Samples from several populations that are part of the HapMap project. AP1B1 NA18505 dgv579n27 22 28097925 28137855 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459869,nsv459868 M 1557 2 0 AP1B1 HGDP01269,HGDP01276 nsv821257 22 28113172 28124087 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420161 S 1 1 0 AP1B1 NA10851 esv23708 22 28113258 28124087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10194,esv16905 M 451 0 30 AP1B1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18523,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 dgv759n67 22 28113405 28121037 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829160,nsv829158,nsv829159,nsv829157,nsv829156 M 31 0 13 AP1B1 AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18592,NA18942,NA18947,NA18951 nsv191528 22 28116603 28119764 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210106 M 24 "" nsv438344 22 28186079 28216043 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470958,nssv470957 M 269 0 1 Samples from several populations that are part of the HapMap project. NEFH NA18552 nsv524511 22 28207417 28207625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700455 S 2026 0 1 NEFH nsv834172 22 28229036 28387948 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455925 S 95 0 1 NF2,NIPSNAP1,THOC5 nsv510513 22 28240800 28246800 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621511,nssv624259 M 4 0 2 THOC5 NA15510,NA18994 nsv521852 22 28304831 28313138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694626 S 2026 0 1 NIPSNAP1 nsv191315 22 28402998 28402998 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209893 M 24 NF2 dgv4953n71 22 28405052 28480549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914963,nsv914964,nsv914966 M 6533 0 3 CABP7,NF2,ZMAT5 IS33504,MS10311,MS18276 nsv515720 22 28411715 28493526 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664554,nssv655407,nssv654961,nssv689899,nssv655367,nssv697956,nssv657818,nssv701308 M 2026 1 7 CABP7,NF2,UQCR10,ZMAT5 nsv914965 22 28416144 28442226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499438 S 6533 0 1 NF2 SP50159 nsv471194 22 28433476 28458380 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545559 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CABP7,ZMAT5 HGDP01090 nsv471195 22 28433476 28458380 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545560 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CABP7,ZMAT5 HGDP00895 nsv914967 22 28433476 28463579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538772 S 6533 0 1 CABP7,ZMAT5 MS13770 nsv817987 22 28493526 28499436 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417519 S 112 0 1 UQCR10 NA18968 nsv3590 22 28496023 28516188 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5929 S 9 1 0 ASCC2,UQCR10 NA19129 esv989381 22 28500518 28507035 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565282 S 3 0 1 "" HuRef esv2183045 22 28500812 28501324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922501 S 1 0 1 "" NA18507 esv2067033 22 28544206 28544655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680656 S 1 0 1 ASCC2 NA18507 dgv760n67 22 28606811 28628761 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829161,nsv829162 M 31 3 0 MTMR3 NA18582,NA18968,NA18973 esv27258 22 28610400 28628271 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11554 S 451 3 0 MTMR3 NA07037,NA15510,NA19240 nsv523696 22 28656102 28711789 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699503 S 2026 1 0 MTMR3 nsv829163 22 28665595 28667117 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427999 S 31 0 1 MTMR3 AK8 esv26961 22 28666350 28667198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15336 S 451 0 5 MTMR3 NA18907,NA19129,NA19190,NA19225,NA19240 nsv3591 22 28674208 28718897 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7738 S 9 0 1 MTMR3 NA12156 esv271834 22 28745453 28748877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518083 S 157 1 0 Samples from several populations that are part of the HapMap project. MTMR3 NA12872 nsv507930 22 28767349 28773349 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620702,nssv617956 M 4 2 0 "" CHM,NA15510 nsv3592 22 28776771 28797434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3081 S 9 1 0 "" NA18555 nsv507931 22 28780392 28786392 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621980 S 4 1 0 "" NA10860 nsv829165 22 28780894 28789421 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431779 S 31 1 0 "" AK18 nsv819812 22 28783933 28800372 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418661 S 2 1 0 "" AK1 dgv761n67 22 28786513 28789421 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829167,nsv829166,nsv829170,nsv829169 M 31 13 0 "" AK10,AK20,NA18526,NA18537,NA18566,NA18570,NA18592,NA18942,NA18947,NA18951,NA18969,NA18972,NA18997 nsv829168 22 28786513 28800312 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437196 S 31 1 0 "" NA18542 nsv507932 22 28815679 28821679 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623320 S 4 1 0 HORMAD2 NA18994 nsv834173 22 28845092 28988277 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455926 S 95 0 1 HORMAD2,LIF nsv527188 22 28859741 28911722 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703584 S 2026 1 0 HORMAD2 nsv191239 22 28901311 28901311 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209817 M 24 HORMAD2 nsv524628 22 28905163 28911722 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700591 S 2026 1 0 "" nsv829171 22 28928030 29373578 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432619 S 31 0 1 CCDC157,GAL3ST1,GATSL3,LIF,MTFP1,OSM,PES1,RNF215,SDC4P,SEC14L2,SEC14L3,SEC14L4,SEC14L6,SF3A1,SLC35E4,TBC1D10A,TCN2 AK20 esv33304 22 28932787 28933047 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93308 S 51 1 0 "" 22170 dgv4954n71 22 28940570 29023581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914968,nsv914969 M 6533 0 2 GATSL3,LIF,OSM,TBC1D10A IS33684,MS16153 esv270819 22 28944019 28944104 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514134 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv914970 22 28949599 29180395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531056 S 6533 0 1 CCDC157,GATSL3,LIF,MTFP1,OSM,RNF215,SEC14L2,SF3A1,TBC1D10A MS10311 nsv834174 22 28949760 29076915 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455927,nssv1455928 M 95 1 1 GATSL3,LIF,OSM,SF3A1,TBC1D10A esv33159 22 28949808 28950392 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93702 S 51 0 1 "" 21972 dgv4955n71 22 28970308 29023581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914971,nsv914972 M 6533 0 2 GATSL3,LIF,OSM,TBC1D10A IS32322,MS18276 esv995861 22 28972448 28973283 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587174 S 3 1 0 LIF HuRef nsv522605 22 29015076 29021631 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705997 S 2026 0 1 GATSL3,TBC1D10A nsv3593 22 29035980 29081122 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7739 S 9 0 1 SF3A1,TBC1D10A NA12156 esv996703 22 29067510 29067596 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568843 S 3 0 1 SF3A1 HuRef esv1167139 22 29067515 29067602 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135836 S 2 0 1 SF3A1 HuRef esv1146961 22 29204323 29204323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671832 S 2 1 0 "" HuRef nsv834175 22 29306624 29419545 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455929 S 95 1 0 DUSP18,PES1,SLC35E4,TCN2 esv1116333 22 29323415 29323415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971780 S 2 1 0 PES1 HuRef esv1367588 22 29349735 29349735 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328922 S 2 1 0 TCN2 HuRef nsv829172 22 29354057 29362291 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428792 S 31 1 0 SLC35E4 AK10 esv2470739 22 29375290 29377365 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345887 S 1 0 1 "" NA18507 esv2159149 22 29375322 29376410 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876951 S 1 0 1 "" NA18507 esv992713 22 29396320 29396830 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587152 S 3 0 1 "" HuRef nsv522377 22 29562074 29579333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695156 S 2026 1 0 OSBP2 nsv914973 22 29562074 29594281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570412 S 6533 0 1 OSBP2 IS31980 nsv520242 22 29575745 29579333 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692755,nssv681335,nssv662082,nssv676693,nssv697957 M 2026 4 1 OSBP2 nsv524629 22 29575745 29584954 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700592 S 2026 1 0 OSBP2 nsv914974 22 29579333 29609536 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597378,nssv1572721,nssv1557522,nssv1543861 M 6533 1 3 OSBP2 IS33162,IS40799,MS16153,MS22741 esv2500485 22 29621011 29624491 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354175 S 1 0 1 OSBP2 NA18507 nsv9896 22 29699204 29843933 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27388 S 31 1 0 Samples from several populations that are part of the HapMap project. SELM,SMTN,TUG1 NA19240 esv24491 22 29750065 29750768 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16303 S 451 34 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv821433 22 29750065 29750768 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420162 S 1 0 1 "" NA10851 nsv524366 22 29770703 29810069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700277 S 2026 0 1 SMTN nsv829173 22 29780043 29873956 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432621 S 31 0 1 INPP5J,PLA2G3,SELM,SMTN AK20 esv26308 22 29791316 29804644 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20214 S 451 1 1 "" NA19108,NA19240 esv1000178 22 29791678 29804550 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586696 S 3 0 1 "" HuRef dgv4956n71 22 29796083 29844477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914977,nsv914975 M 6533 0 2 SELM,SMTN IS39233,SP54956 nsv914976 22 29805307 29873260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543862 S 6533 0 1 INPP5J,PLA2G3,SELM,SMTN MS16153 esv29436 22 29816508 29817078 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10153 S 451 0 1 SMTN NA19108 esv1004732 22 29840970 29841019 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580154 S 3 0 1 "" HuRef esv1233760 22 29840971 29841021 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663658 S 2 0 1 "" HuRef nsv527382 22 29862960 29863225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703817 S 2026 0 1 PLA2G3 nsv459871 22 29881160 30010624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536536 S 1557 0 1 LIMK2,MIR3928,PIK3IP1,RNF185 1780862226_A nsv507933 22 29921657 29927657 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623321,nssv620703,nssv621981 M 4 3 0 RNF185 NA10860,NA15510,NA18994 esv2543296 22 29952106 29953002 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191956 S 1 1 0 LIMK2 NA18507 nsv834176 22 30012426 30194701 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455930,nssv1455931 M 95 0 2 DRG1,EIF4ENIF1,PATZ1,PIK3IP1 esv2547413 22 30081624 30082085 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336274 S 1 1 0 "" NA18507 nsv513588 22 30081706 30081896 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626840 S 1 1 0 "" 1 esv4066 22 30106394 30110728 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26507 S 1 0 1 Single Asian sample YH "" YH nsv435746 22 30108209 30113929 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465774 S 2 0 1 "" NA15510 esv33955 22 30115998 30118940 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99950 S 51 0 1 "" 22086 esv1490942 22 30133933 30134560 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184320 S 2 0 1 DRG1 HuRef nsv829174 22 30161285 30161801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423706 S 31 0 1 "" NA18547 nsv9897 22 30190213 30194142 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27894 S 31 1 0 Samples from several populations that are part of the HapMap project. EIF4ENIF1 NA18972 nsv914978 22 30227795 30272770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507210 S 6533 0 1 SFI1 SP54490 nsv3594 22 30230089 30263694 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3082 S 9 1 0 SFI1 NA18555 esv1038327 22 30255998 30256318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115271 S 2 0 1 SFI1 HuRef nsv914979 22 30294043 30320184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505459 S 6533 0 1 SFI1 SP53528 nsv914980 22 30296274 30354980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547101 S 6533 0 1 PISD,SFI1 MS17208 nsv517534 22 30307594 30354980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687411,nssv691875,nssv661911,nssv652289,nssv671400,nssv655941,nssv685538,nssv658385,nssv674567 M 2026 0 9 PISD,SFI1 esv1626782 22 30317936 30318083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666637 S 2 0 1 SFI1 HuRef esv1485049 22 30318239 30318368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786627 S 2 0 1 SFI1 HuRef esv1430494 22 30318484 30318709 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173032 S 2 0 1 SFI1 HuRef nsv829176 22 30328223 30359556 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432622 S 31 0 1 PISD,SFI1 AK20 esv268751 22 30344241 30344326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518181 S 157 1 0 Samples from several populations that are part of the HapMap project. SFI1 NA12872 esv2493801 22 30366635 30369157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234810 S 1 0 1 "" NA18507 esv1992499 22 30367412 30368996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853118 S 1 0 1 "" NA18507 nsv3595 22 30470579 30503626 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7740 S 9 1 0 DEPDC5,PRR14L NA12156 esv2513825 22 30582169 30582218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250408 S 1 0 1 DEPDC5 NA18507 nsv508731 22 30593996 30678537 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621150 S 4 1 0 C22orf24,DEPDC5,YWHAH NA15510 esv2575942 22 30629017 30629802 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253280 S 1 1 0 DEPDC5 NA18507 esv2547572 22 30733142 30735905 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302971 S 1 0 1 "" NA18507 esv2097085 22 30733749 30735330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874278 S 1 0 1 "" NA18507 esv24390 22 30733891 30735085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19039 S 451 0 1 "" NA19129 nsv834177 22 30746679 30924663 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455932 S 95 1 0 AP1B1P1,C22orf42,RFPL2,SLC5A1 esv2422247 22 30816448 31118258 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161459 S 181 1 0 AP1B1P1,C22orf28,C22orf42,LOC339666,RFPL2,RFPL3,RFPL3-AS1,SLC5A1,SLC5A4 ND00665 nsv834178 22 30820449 31007521 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455933 S 95 0 1 AP1B1P1,C22orf42,RFPL2,SLC5A1,SLC5A4 nsv3596 22 30821329 30837091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7741 S 9 0 1 SLC5A1 NA12156 esv1076455 22 30871703 30871703 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758412 S 2 1 0 "" HuRef esv1018058 22 30871820 30871820 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033512 S 2 1 0 "" HuRef nsv459874 22 30904274 31196934 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536538 S 1557 1 0 BPIFC,C22orf28,LOC339666,RFPL2,RFPL3,RFPL3-AS1,SLC5A4 NINDS_33 esv992115 22 30904819 30906598 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565669 S 3 1 0 "" HuRef nsv3597 22 30918424 30962724 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2368 S 9 0 1 RFPL2,SLC5A4 NA18555 esv1064289 22 30939584 30939584 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816136 S 2 1 0 "" HuRef esv29367 22 31016431 31033283 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11671 S 451 0 1 "" NA18861 esv1510625 22 31018127 31018194 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099527 S 2 0 1 "" HuRef nsv191540 22 31031291 31031734 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210118 M 24 "" nsv519170 22 31095949 31101017 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696652 S 2026 1 0 RFPL3-AS1 nsv520296 22 31104129 31104944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697333 S 2026 0 1 LOC339666 esv2592786 22 31108470 31108533 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202076 S 1 0 1 LOC339666 NA18507 esv268198 22 31149907 31150022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506790,essv2511176,essv2512436,essv2495855,essv2508353,essv2502521,essv2493421,essv2505021,essv2495773,essv2495065,essv2499572 M 157 11 0 Samples from several populations that are part of the HapMap project. BPIFC NA07000,NA07051,NA07357,NA11918,NA11931,NA12043,NA12489,NA12749,NA12750,NA12763,NA12828 esv270832 22 31157390 31157731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517467,essv2518112 M 157 2 0 Samples from several populations that are part of the HapMap project. BPIFC NA11918,NA12872 nsv526513 22 31173436 31173938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702823 S 2026 0 1 BPIFC nsv519086 22 31173938 31177116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696560 S 2026 0 1 BPIFC nsv520883 22 31187824 31188428 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697668 S 2026 0 1 "" nsv914981 22 31242277 31270660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547102 S 6533 0 1 SYN3 MS17208 esv23339 22 31257932 31258517 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12108 S 451 21 0 SYN3 NA06985,NA11931,NA11995,NA12004,NA12044,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 esv2529621 22 31297948 31298962 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277014 S 1 1 0 SYN3 NA18507 esv1328555 22 31330554 31330554 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923383 S 2 1 0 SYN3 HuRef esv1395557 22 31330575 31330575 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008385 S 2 1 0 SYN3 HuRef nsv459875 22 31355180 31427662 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536539 S 1557 1 0 SYN3 1780862585_A nsv191249 22 31540304 31540304 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209827 M 24 SYN3,TIMP3 esv1085289 22 31540326 31540326 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008422 S 2 1 0 SYN3,TIMP3 HuRef nsv3599 22 31560106 31604789 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7742 S 9 0 1 SYN3,TIMP3 NA12156 esv2638943 22 31625280 31626930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257854 S 1 0 1 SYN3 NA18507 dgv20e194 22 31625571 31626286 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2042529,esv2280543 M 1 0 1 SYN3 NA18507 esv3917 22 31625684 31626197 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26358 S 1 0 1 Single Asian sample YH SYN3 YH nsv191235 22 31625759 31626076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209813 M 24 SYN3 esv998207 22 31625766 31626083 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580015 S 3 0 1 SYN3 HuRef esv2476031 22 31625772 31626089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313505 S 1 0 1 SYN3 NA18507 esv1664547 22 31625772 31626090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048125 S 2 0 1 SYN3 HuRef esv6171 22 31625794 31626078 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28612 S 1 0 1 SYN3 SJK nsv3600 22 31651436 31698629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2370,nssv5930 M 9 2 0 SYN3 NA18555,NA19129 nsv507934 22 31739228 31745228 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621982,nssv623322,nssv620704 M 4 3 0 SYN3 NA10860,NA15510,NA18994 nsv528534 22 31789131 31799031 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705145 S 2026 0 1 "" nsv3601 22 31824051 31858050 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3083 S 9 1 0 "" NA18555 esv2484488 22 31825653 31826955 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377315 S 1 0 1 "" NA18507 nsv914982 22 31842743 31888767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533970 S 6533 1 0 "" MS11355 esv1624620 22 31850371 31850371 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003079 S 2 1 0 "" HuRef esv1297282 22 31858499 31858499 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357855 S 2 1 0 "" HuRef nsv528580 22 31905820 31908150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705199 S 2026 0 1 "" nsv510514 22 31918127 31924127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622327 S 4 0 1 "" NA10860 nsv519681 22 31946805 31954845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657551,nssv681125,nssv686228,nssv689940 M 2026 0 4 "" esv27818 22 31992527 31995397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20450 S 451 0 3 "" NA12489,NA18508,NA19099 nsv3602 22 32025768 32056320 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4582 S 9 1 0 LARGE NA12878 nsv3603 22 32059444 32092986 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4583 S 9 1 0 LARGE NA12878 esv27917 22 32066047 32067076 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11750 S 451 0 1 LARGE NA19108 nsv521249 22 32067243 32070860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689361,nssv688341 M 2026 0 2 LARGE esv2344186 22 32070569 32070991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525657 S 1 0 1 LARGE NA18507 nsv191505 22 32070682 32070761 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210083 M 24 LARGE nsv459876 22 32076624 32106430 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536540 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LARGE HGDP00141 esv5012 22 32081586 32081833 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27453 S 1 0 1 Single Asian sample YH LARGE YH esv994298 22 32081615 32081765 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585623 S 3 0 1 LARGE HuRef esv32905 22 32081615 32081816 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100707 S 51 1 0 LARGE 21656 esv1661802 22 32081617 32081768 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167295 S 2 0 1 LARGE HuRef esv28179 22 32085873 32090446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17157 S 451 0 3 LARGE NA12004,NA12749,NA19147 nsv829177 22 32087215 32089971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431697 S 31 0 1 LARGE NA18947 esv32847 22 32087443 32090021 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101459,essv97489,essv101005,essv101328,essv101720,essv94592,essv96520,essv100217 M 51 0 8 LARGE 21603,21616,21693,21805,21909,21932,22261,22286 nsv526030 22 32090604 32106430 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702261 S 2026 1 0 LARGE esv25278 22 32110263 32113473 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10619 S 451 34 0 LARGE NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820903 22 32110300 32113300 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420163 S 1 0 1 LARGE NA10851 dgv762n67 22 32110337 32112251 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829179,nsv829178 M 31 2 0 LARGE NA18564,NA18582 nsv820301 22 32110422 32113105 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419466 S 2 1 0 LARGE AK1 nsv914983 22 32130119 32365034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550710 S 6533 0 1 LARGE,MIR4764 MS18552 nsv914984 22 32178936 32237964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533346 S 6533 0 1 LARGE MS11105 esv2751963 22 32185512 32265897 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988516,essv6982290,essv6986133 M 771 1 0 LARGE BEC_411 nsv914985 22 32192494 32228368 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563646 S 6533 1 0 LARGE MS26144 nsv914986 22 32193218 32297289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554667 S 6533 1 0 LARGE MS20878 dgv1398e1 22 32198945 32239546 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3269,essv5539,essv22926,essv3404,essv11618,essv538,essv10751,esv234,essv18262,essv24934,essv11266,essv17769 M 271 0 0 LARGE NA06994,NA07357,NA10831,NA10846,NA18523,NA18529,NA18945,NA18972,NA18998,NA19154,NA19204 nsv829180 22 32205380 32219641 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430301 S 31 0 1 LARGE AK14 nsv914987 22 32250421 32377427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521352 S 6533 0 1 LARGE SP52351 esv259415 22 32291480 32291774 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394178,essv2393917,essv2393832,essv2393737 M 6 0 0 Samples from several populations that are part of the HapMap project. LARGE NA12878,NA12891,NA12892,NA19238 esv260013 22 32291492 32291797 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399026,essv2400904,essv2398877,essv2395790,essv2396235,essv2397578,essv2399973,essv2395397,essv2397324,essv2401063,essv2396925,essv2400695,essv2400931,essv2400106,essv2395372,essv2397165,essv2397754,essv2394561,essv2398749,essv2396419,essv2395994 M 144 0 0 Samples from several populations that are part of the HapMap project. LARGE NA10851,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12749,NA12878,NA12891,NA12892,NA18542,NA18547,NA18861,NA18916,NA18951,NA18956,NA18965,NA19005,NA19138,NA19238 esv1002745 22 32291549 32291549 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575593 S 3 1 0 LARGE HuRef esv5940 22 32291689 32291767 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28381 S 1 1 0 LARGE SJK nsv191468 22 32291727 32291727 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210046 M 24 LARGE nsv914988 22 32305998 32413987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563647 S 6533 1 0 LARGE MS26144 nsv3604 22 32319063 32351672 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6980 S 9 1 0 LARGE NA12156 nsv914989 22 32341334 32413987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554668 S 6533 1 0 LARGE MS20878 esv2121214 22 32399657 32400147 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674561 S 1 0 1 LARGE NA18507 esv1173419 22 32399846 32399967 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782813 S 2 0 1 LARGE HuRef esv4442 22 32406333 32406595 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26883 S 1 0 1 Single Asian sample YH LARGE YH nsv914990 22 32420440 32703293 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563648 S 6533 1 0 LARGE,LOC100506195 MS26144 nsv519677 22 32426135 32428417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657537,nssv657744 M 2026 0 2 LARGE dgv4957n71 22 32436384 32623516 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv914992,nsv914991 M 6533 2 0 LARGE,LOC100506195 MS20878,SP81554 nsv459878 22 32436745 32556592 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536541 S 1557 0 1 LARGE,LOC100506195 1780854481_A nsv524432 22 32449866 32476368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700359 S 2026 0 1 LARGE,LOC100506195 nsv522709 22 32454976 32461153 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706121 S 2026 1 0 LARGE,LOC100506195 nsv524156 22 32475596 32590738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700035 S 2026 0 1 LARGE,LOC100506195 dgv1399e1 22 32499795 32533479 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2436,esv338 M 271 0 0 LARGE NA18999 nsv526550 22 32534930 32551959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702864 S 2026 0 1 LARGE nsv914993 22 32707020 32774383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577922 S 6533 0 1 "" IS34599 esv268606 22 32726830 32726996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504040,essv2513542,essv2495707,essv2497072 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18907,NA18916,NA19190 esv270448 22 32760582 32760917 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557770,essv2575872,essv2540975,essv2546443,essv2521194,essv2526030,essv2542261,essv2536708,essv2522660,essv2543916,essv2571021,essv2556551,essv2568101,essv2545546,essv2523455,essv2577554,essv2570426,essv2521845,essv2576777,essv2525506,essv2535239,essv2554060,essv2544391,essv2552289,essv2520618,essv2547604,essv2529333,essv2558562,essv2564406,essv2577939,essv2553620,essv2559622,essv2565302,essv2576259,essv2564041,essv2530893,essv2562119,essv2537443,essv2528561,essv2546920,essv2520797,essv2562702,essv2550058,essv2558846,essv2527340,essv2561441,essv2544619,essv2562930,essv2552759,essv2541373,essv2542654,essv2540376,essv2524339,essv2564875,essv2534601,essv2539712,essv2549203,essv2519779,essv2559862,essv2522082,essv2531025,essv2532832,essv2567959,essv2528898,essv2541498,essv2570040,essv2563933,essv2553391,essv2535676,essv2572491,essv2559074,essv2551000,essv2543595,essv2578168,essv2573080,essv2555397,essv2555717,essv2567283,essv2529926,essv2574023,essv2527599,essv2555819,essv2531428,essv2543184,essv2573283,essv2577071,essv2571846,essv2527002,essv2575642,essv2575083,essv2538850,essv2524195,essv2546141,essv2574471,essv2536076,essv2537911,essv2548714,essv2533288,essv2524834,essv2563527 M 157 100 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18507,NA18511,NA18516,NA18522,NA18523,NA18526,NA18532,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18870,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18961,NA18965,NA18969,NA18970,NA18973,NA19005,NA19099,NA19102,NA19108,NA19129,NA19239,NA19240 esv273750 22 32760582 32760917 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582060,essv2582649,essv2583197,essv2584602,essv2583691 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 nsv829181 22 32823496 32824155 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423718 S 31 0 1 "" NA18547 nsv507935 22 32843834 32849834 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623323,nssv617957,nssv621983,nssv620705 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv834179 22 32870805 33020324 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455934 S 95 0 1 "" dgv257n21 22 32873510 32879635 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527465,nsv522965 M 2026 0 2 "" esv26840 22 33054321 33055253 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10668 S 451 1 0 "" NA07045 dgv1400e1 22 33073665 33112910 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24906,esv367 M 271 0 0 "" NA06994 esv1490360 22 33089015 33089015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339355 S 2 1 0 "" HuRef esv2624906 22 33122246 33123000 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382232 S 1 1 0 "" NA18507 nsv3605 22 33130527 33146808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10321 S 9 1 0 "" NA18956 nsv829182 22 33175037 33176173 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423731 S 31 0 1 "" NA18547 esv2583482 22 33193809 33196687 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222504 S 1 0 1 "" NA18507 esv22968 22 33193937 33196241 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21386 S 451 2 0 "" NA07045,NA12489 nsv510515 22 33221909 33227909 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618465 S 4 0 1 "" CHM esv27602 22 33230119 33231341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11857 S 451 0 3 "" NA18505,NA18508,NA19190 esv1188195 22 33304416 33304416 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208362 S 2 1 0 "" HuRef dgv763n67 22 33340230 33340838 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829184,nsv829183 M 31 0 3 "" AK16,NA18947,NA18999 nsv3606 22 33359825 33422705 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9375 S 9 0 1 "" NA18517 nsv517599 22 33437923 33441008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679730,nssv652474 M 2026 0 2 "" nsv523254 22 33437923 33447318 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698983 S 2026 0 1 "" nsv834180 22 33464653 33678907 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455935 S 95 1 0 "" esv269959 22 33510715 33511054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510223,essv2503249,essv2501648,essv2508574,essv2509813,essv2500455,essv2494629,essv2497737,essv2510024,essv2496118,essv2499226,essv2507264,essv2511707,essv2502384,essv2512365,essv2495205,essv2502634,essv2506674,essv2510512 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11881,NA12144,NA12717,NA18508,NA18537,NA18550,NA18555,NA18593,NA18603,NA18605,NA18870,NA18940,NA18948,NA18949,NA18964,NA18965,NA19108,NA19172 nsv3607 22 33583306 33629329 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6981 S 9 0 1 "" NA12156 nsv9898 22 33624385 33629784 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25617,nssv26594,nssv22951,nssv28057,nssv27382,nssv22565,nssv26445,nssv26419,nssv25562,nssv27900,nssv27854,nssv23243,nssv24717,nssv27427,nssv22952,nssv28765,nssv26021,nssv26775,nssv26141,nssv24828,nssv25901,nssv28130,nssv26085,nssv26022,nssv25380,nssv27980,nssv26272,nssv25366,nssv27362,nssv25739 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819493 22 33624453 33629104 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419651 S 2 1 0 "" AK1 nsv821448 22 33624933 33629150 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420164 S 1 0 1 "" NA10851 esv28070 22 33625028 33629027 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12114 S 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv764n67 22 33625069 33628891 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829187,nsv829185 M 31 4 0 "" NA18526,NA18566,NA18582,NA18592 nsv437196 22 33625105 33629628 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467077 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10851 nsv817988 22 33626379 33628506 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416290,nssv1416289 M 112 0 2 "" NA10851,NA12056 nsv438345 22 33626455 33627998 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470960,nssv470959 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10851,NA12056 nsv526234 22 33657360 33657740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702501 S 2026 0 1 "" nsv3608 22 33689052 33723079 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7743 S 9 1 0 "" NA12156 nsv834182 22 33712144 33885243 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1455977,nssv1455969,nssv1455995,nssv1455944,nssv1456004,nssv1455951,nssv1455973,nssv1455983,nssv1455943,nssv1456000,nssv1455945,nssv1455999,nssv1455972,nssv1455946,nssv1455998,nssv1455948,nssv1455950,nssv1455954,nssv1455974,nssv1455976,nssv1455949,nssv1455975,nssv1455996,nssv1455979,nssv1456001,nssv1455971,nssv1455982,nssv1455953,nssv1455997,nssv1455978,nssv1455947,nssv1456002,nssv1456003,nssv1455968,nssv1455981,nssv1455965,nssv1455952,nssv1455980,nssv1455970,nssv1455994,nssv1455987,nssv1455958,nssv1456007,nssv1455957,nssv1455942,nssv1456006,nssv1455955,nssv1455956,nssv1455985,nssv1456005,nssv1455986,nssv1455984,nssv1455959,nssv1456009,nssv1455962,nssv1455966,nssv1455967,nssv1455941,nssv1455990,nssv1455989,nssv1455963,nssv1456008,nssv1455993,nssv1455961,nssv1455960,nssv1455936,nssv1455937,nssv1455940,nssv1455992,nssv1455938,nssv1455939,nssv1456010,nssv1455991,nssv1455988,nssv1455964 M 95 75 0 ISX esv34121 22 33714860 33827194 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ISX nsv829188 22 33726338 33727577 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423743 S 31 0 1 "" NA18547 nsv526797 22 33743447 33757427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703151 S 2026 0 1 "" dgv1401e1 22 33768411 33962953 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7027,esv756 M 271 0 0 ISX NA18612 nsv834183 22 33774662 33959525 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456023,nssv1456056,nssv1456066,nssv1456052,nssv1456034,nssv1456067,nssv1456072,nssv1456021,nssv1456071,nssv1456069,nssv1456022,nssv1456070,nssv1456050,nssv1456020,nssv1456068,nssv1456017,nssv1456049,nssv1456074,nssv1456073,nssv1456048,nssv1456028,nssv1456077,nssv1456027,nssv1456029,nssv1456026,nssv1456025,nssv1456024,nssv1456014,nssv1456055,nssv1456051,nssv1456015,nssv1456016,nssv1456031,nssv1456030,nssv1456054,nssv1456075,nssv1456053,nssv1456059,nssv1456035,nssv1456065,nssv1456019,nssv1456013,nssv1456076,nssv1456058,nssv1456039,nssv1456033,nssv1456057,nssv1456040,nssv1456032,nssv1456038,nssv1456037,nssv1456036,nssv1456047,nssv1456046,nssv1456043,nssv1456064,nssv1456062,nssv1456061,nssv1456042,nssv1456060,nssv1456018,nssv1456041,nssv1456063,nssv1456012,nssv1456011,nssv1456045,nssv1456044 M 95 67 0 ISX esv35003 22 33786303 33901497 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979723,essv6988228,essv6988229,essv6979722,essv6979724 M 771 0 1 ISX NA18612 nsv512653 22 33786917 33789620 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625271 S 1 0 1 "" 1 esv26909 22 33787951 33799677 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18162 S 451 2 0 ISX NA11993,NA19114 esv1941735 22 33788829 33789584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847506 S 1 0 1 "" NA18507 esv3349 22 33788945 33789548 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25790 S 1 0 1 Single Asian sample YH "" YH esv8686 22 33789000 33789450 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31127 S 1 0 1 "" SJK essv7049 22 33790650 33908415 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ISX NA18612 esv32783 22 33791327 33791755 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98735,essv97593,essv94738,essv94121,essv94378,essv97852,essv95681,essv93109,essv97300,essv95872,essv98959,essv97101,essv93556,essv93269,essv94944,essv100165 M 51 3 13 "" 21606,21616,21791,21802,21808,21837,21841,21863,21879,21911,21938,22075,22128,22170,22231,22286 nsv817989 22 33792649 33880231 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417359 S 112 0 1 ISX NA18612 esv28292 22 33799747 33801058 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14523 S 451 0 5 ISX NA06985,NA07045,NA18916,NA19099,NA19114 nsv820628 22 33799747 33801058 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420165 S 1 1 0 ISX NA10851 esv7853 22 33913893 33913942 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30294 S 1 1 0 "" SJK esv33922 22 33936523 33944168 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100758 S 51 1 0 "" 21656 nsv511647 22 33961590 33979598 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626282 S 1 0 1 "" 1 nsv914994 22 33961590 34143158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598735,nssv1553774 M 6533 0 2 HMGXB4,HMOX1,MCM5,MIR3909,TOM1 IS40890,MS20286 nsv512654 22 33974967 33976169 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625272 S 1 0 1 "" 1 esv6623 22 33975145 33976123 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29064 S 1 0 1 "" SJK esv1515200 22 33975166 33976141 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129509 S 2 0 1 "" HuRef dgv765n67 22 33975258 33976291 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829190,nsv829189 M 31 8 10 "" AK14,AK2,AK6,AK8,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18951,NA18968,NA18972,NA18997,NA18999 nsv820791 22 33975258 33976662 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420166 S 1 0 1 "" NA10851 nsv829191 22 33975258 33976662 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432623 S 31 0 1 "" AK20 esv26360 22 33975445 33976472 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21264 S 451 7 9 "" NA06985,NA07037,NA11894,NA11931,NA12044,NA12156,NA12239,NA12414,NA12776,NA15510,NA18508,NA18916,NA19108,NA19114,NA19129,NA19240 esv33138 22 33975487 33976006 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101161,essv100886,essv96771,essv95103,essv98335,essv101282,essv97070,essv95413,essv95806,essv94523,essv92988,essv92669,essv96236,essv96711,essv96031,essv93331,essv94898,essv92542,essv100455,essv100361,essv96293 M 51 21 0 "" 21618,21656,21659,21721,21772,21805,21817,21847,21911,21932,21939,21944,22007,22011,22127,22170,22231,22233,22298,22300,22371 esv2170801 22 33993451 33993841 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806570 S 1 0 1 HMGXB4 NA18507 nsv914995 22 34053831 34218604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531057 S 6533 0 1 HMOX1,MCM5,MIR3909,TOM1 MS10311 nsv3610 22 34072444 34086028 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9869 S 9 1 0 TOM1 NA18507 nsv914996 22 34080980 34143158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574950 S 6533 0 1 HMOX1,MCM5 IS33669 esv2436992 22 34082579 34092299 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265173 S 1 1 0 "" NA18507 nsv520762 22 34084413 34091650 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704977,nssv675092,nssv683240 M 2026 2 1 "" nsv3611 22 34089376 34111146 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9611 S 9 1 0 HMOX1 NA18507 nsv914997 22 34099966 34122974 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507947 S 6533 1 0 HMOX1 SP54650 nsv914998 22 34107618 34113170 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507085 S 6533 1 0 HMOX1 SP54468 dgv4958n71 22 34111214 34117167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915000,nsv914999 M 6533 0 2 HMOX1 SP56861,SP56886 nsv915001 22 34111214 34122974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501303 S 6533 0 1 HMOX1 SP51058 nsv520686 22 34136815 34138767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697556 S 2026 0 1 MCM5 esv2461696 22 34189117 34189807 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224191 S 1 1 0 "" NA18507 nsv513589 22 34189375 34189525 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626841 S 1 1 0 "" 1 nsv834184 22 34228037 34347632 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456078 S 95 0 1 MB,RASD2 esv2551637 22 34259227 34260336 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285672 S 1 1 0 "" NA18507 nsv817990 22 34268327 34301827 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415719 S 112 1 0 RASD2 NA12248 esv1010711 22 34277492 34277938 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586787 S 3 1 0 RASD2 HuRef nsv510806 22 34325602 34362213 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619022 S 4 0 1 MB NA10860 esv2477208 22 34355980 34356488 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199965 S 1 1 0 "" NA18507 esv271969 22 34357600 34357685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513817 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv511076 22 34362213 34477742 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624371,nssv618616 M 4 0 0 APOL5,APOL6,RBFOX2 CHM,NA18994 esv28087 22 34399836 34401372 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15786 S 451 0 1 "" NA19114 esv8592 22 34417908 34423928 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31033 S 1 0 1 "" SJK esv7440 22 34420184 34425881 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29881 S 1 0 1 "" SJK nsv436346 22 34420786 34429458 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465775 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2433372 22 34421534 34427385 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188811 S 1 0 1 "" NA18507 nsv3612 22 34439107 34487702 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1642,nssv4584,nssv9870,nssv2371,nssv5931,nssv6982 M 9 6 0 APOL5,RBFOX2 NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 esv1005580 22 34460551 34462665 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563457 S 3 1 0 "" HuRef nsv512655 22 34462623 34464567 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625273 S 1 0 1 "" 1 nsv527454 22 34495051 34506523 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703895 S 2026 1 0 RBFOX2 esv2423870 22 34552794 34554240 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261623 S 1 0 1 RBFOX2 NA18507 nsv915002 22 34589506 34712048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553430 S 6533 0 1 RBFOX2 MS20030 nsv915003 22 34589506 34802289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579134 S 6533 0 1 RBFOX2 IS35018 nsv3613 22 34623769 34657823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3084 S 9 1 0 RBFOX2 NA18555 nsv519467 22 34664207 34726452 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681837,nssv692808,nssv685120,nssv703896,nssv656287 M 2026 5 0 RBFOX2 esv2654054 22 34682887 34684166 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193015 S 1 0 1 RBFOX2 NA18507 nsv3614 22 34744157 34776731 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10322 S 9 1 0 RBFOX2 NA18956 esv274936 22 34773621 34778293 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586012 S 1250 0 1 "" esv26017 22 34806990 34811125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19704 S 451 0 1 "" NA18508 dgv258n21 22 34807973 34810827 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518100,nsv522315 M 2026 0 2 "" esv2751964 22 34863731 34909507 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985383,essv6990125,essv6985381,essv6985382 M 771 0 1 APOL3 SPC_157 dgv4959n71 22 34863888 34914376 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915004,nsv915005 M 6533 0 4 APOL3 MS15838,MS16325,MS16885,SP81135 nsv526454 22 34869798 34913030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702757 S 2026 0 1 APOL3 nsv521866 22 34881104 34885740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694638 S 2026 0 1 APOL3 esv272176 22 34891171 34891377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580432,essv2579129,essv2579455 M 7 3 0 Samples from several populations that are part of the HapMap project. APOL3 NA12891,NA19239,NA19240 esv271983 22 34891217 34891432 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511818,essv2510687,essv2493313,essv2504082,essv2496559,essv2506056,essv2507224,essv2513402,essv2507338,essv2506626,essv2496937,essv2501886,essv2498150 M 157 13 0 Samples from several populations that are part of the HapMap project. APOL3 NA18499,NA18501,NA18504,NA18505,NA18510,NA18523,NA18870,NA18907,NA18912,NA19108,NA19190,NA19239,NA19240 esv22243 22 34893700 34905559 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13058,esv18637,esv17384 M 451 0 6 "" NA06985,NA18508,NA18861,NA19099,NA19114,NA19147 esv1002337 22 34895970 34907349 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564792 S 3 0 1 "" HuRef nsv517600 22 34901862 34902461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664987,nssv664335,nssv652476,nssv657593,nssv672082,nssv667917,nssv662818,nssv659018,nssv690077,nssv684697,nssv658020,nssv687267,nssv662051,nssv664737,nssv689765,nssv659837 M 2026 0 16 "" nsv817991 22 34901862 34902461 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416619 S 112 0 1 "" NA19172 nsv915006 22 34922316 34960936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570908 S 6533 0 1 APOL2,APOL4 IS32329 esv7844 22 34927916 34981309 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30285 S 1 0 0 APOL1,APOL2,APOL4 SJK esv2469956 22 34942405 34944988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283805 S 1 0 1 "" NA18507 esv2316636 22 34942767 34944448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713864 S 1 0 1 "" NA18507 esv25055 22 34942923 34944355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17405 S 451 0 21 "" NA07045,NA11894,NA11993,NA12776,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv522931 22 34946391 35044581 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698594 S 2026 1 0 APOL1,APOL2,MYH9 esv1003985 22 34953660 34967529 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565421 S 3 0 1 APOL2 HuRef nsv834185 22 34956796 35118041 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456079 S 95 0 1 APOL1,APOL2,MYH9 nsv915007 22 35002222 35055916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547103 S 6533 0 1 MYH9 MS17208 nsv523911 22 35005096 35028938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699754 S 2026 0 1 MYH9 nsv523629 22 35009004 35014300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699428 S 2026 0 1 MYH9 nsv520497 22 35025888 35296188 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697455 S 2026 1 0 CACNG2,EIF3D,FOXRED2,MYH9,TXN2 esv1147593 22 35043047 35043047 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015917 S 2 1 0 MYH9 HuRef nsv834186 22 35061869 35236758 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456080,nssv1456083,nssv1456082,nssv1456084,nssv1456081 M 95 0 5 FOXRED2,MYH9,TXN2 dgv1402e1 22 35236509 35371980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6737,esv20 M 271 0 0 CACNG2,EIF3D NA18562 nsv3615 22 35248142 35270641 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9612 S 9 1 0 EIF3D NA18507 esv23004 22 35248684 35253436 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9920 S 451 0 1 EIF3D NA19129 nsv191574 22 35261746 35264227 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210152 M 24 "" nsv9899 22 35272235 35280863 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28766 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv23417 22 35273228 35279628 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10780 S 451 0 4 "" NA18907,NA18909,NA19108,NA19114 nsv442507 22 35273727 35278691 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421891 22 35273727 35278692 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109117,essv5133382,essv5006401,essv5090672,essv5074843,essv5016872,essv5143277,essv5086616,essv5079799,essv5004243,essv5062525,essv5002246,essv5044769,essv5080804,essv5058812,essv5064003,essv5052255,essv5041525,essv5147000,essv5126670,essv5107924,essv5137385,essv5115232,essv5109525,essv5065999,essv5029927,essv5091266,essv5052379,essv5137453,essv5102851,essv5080976,essv5062214,essv5087750,essv5019660,essv5133624,essv5143234,essv5003615,essv5115797,essv5011714,essv5130250,essv5026654,essv5062175,essv5156072,essv5115750,essv5112515 M 1184 0 45 "" NA18487,NA18497,NA18498,NA18516,NA18518,NA18519,NA18867,NA18871,NA18874,NA18875,NA18909,NA18913,NA18924,NA18934,NA19094,NA19102,NA19108,NA19109,NA19114,NA19115,NA19130,NA19149,NA19179,NA19180,NA19185,NA19192,NA19194,NA19197,NA19199,NA19200,NA19221,NA19222,NA19223,NA19238,NA19446,NA19468,NA19818,NA19900,NA19901,NA19908,NA19909,NA19919,NA20276,NA20294,NA20295 nsv9900 22 35288562 35291181 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27906 S 31 1 0 Samples from several populations that are part of the HapMap project. CACNG2 NA18972 nsv9901 22 35301848 35307197 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27861 S 31 1 0 Samples from several populations that are part of the HapMap project. CACNG2 NA19132 esv989250 22 35403677 35403934 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566601 S 3 0 1 CACNG2 HuRef esv2562734 22 35406346 35407353 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328017 S 1 1 0 CACNG2 NA18507 nsv915008 22 35422455 35478881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510450 S 6533 0 1 CACNG2 SP54956 esv1324892 22 35432254 35432254 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949673 S 2 1 0 "" HuRef nsv3616 22 35434303 35442223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4585 S 9 0 1 "" NA12878 nsv511077 22 35444967 35521184 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622438,nssv624372 M 4 0 0 IFT27 NA10860,NA18994 nsv3617 22 35453676 35547808 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2372,nssv9871,nssv6983,nssv10323,nssv7744,nssv4586,nssv11054 M 9 0 6 IFT27,PVALB NA12156,NA12878,NA15510,NA18507,NA18555,NA18956 esv2563878 22 35456756 35458086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268801 S 1 0 1 "" NA18507 esv2873 22 35456976 35457288 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25314 S 1 0 1 Single Asian sample YH "" YH esv1642966 22 35457035 35457207 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177085 S 2 0 1 "" HuRef nsv191162 22 35457036 35457207 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209740 M 24 "" nsv507936 22 35459484 35465484 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617958,nssv620706 M 4 2 0 "" CHM,NA15510 esv33536 22 35468292 35474501 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100038 S 51 1 0 "" 22086 esv988761 22 35469706 35473910 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564770 S 3 0 1 "" HuRef dgv75n16 22 35471230 35479165 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436345,nsv435745 M 2 0 2 "" NA15510,NA18505 nsv510516 22 35472056 35478056 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618466 S 4 0 1 "" CHM esv2649680 22 35472241 35476904 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213318 S 1 0 1 "" NA18507 esv2429969 22 35472313 35478318 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242244 S 1 0 1 "" NA18507 nsv512656 22 35472639 35477839 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625274 S 1 0 1 "" 1 dgv766n67 22 35472806 35474632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829193,nsv829194,nsv829192 M 31 3 0 "" AK10,AK16,AK18 esv8561 22 35473094 35477823 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31002 S 1 0 1 "" SJK nsv498986 22 35473115 35477849 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585847 S 9 0 1 "" nsv191525 22 35473116 35477841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210103 M 24 "" esv21559 22 35473303 35476957 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14305 S 451 27 0 "" NA06985,NA12006,NA12156,NA12239,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv767n67 22 35473303 35477142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829198,nsv829195 M 31 0 23 "" AK14,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821138 22 35473303 35477142 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420167 S 1 0 1 "" NA10851 nsv819987 22 35473307 35477752 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419638 S 2 1 0 "" AK1 nsv829196 22 35473514 35474632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436307 S 31 0 1 "" NA18566 esv33500 22 35473736 35476971 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93877,essv93861,essv100843,essv96819,essv100960,essv95116,essv98279,essv94784,essv94669,essv94063,essv97021,essv97827,essv97805,essv95612,essv95423,essv95282,essv95349,essv98971,essv92695,essv92729,essv93627,essv96667,essv97207,essv93505,essv93292,essv93215,essv99574,essv94985,essv96557,essv99269,essv99264,essv100278,essv100201,essv100389,essv100356 M 51 3 23 "" 21634,21656,21659,21693,21721,21772,21791,21802,21817,21837,21841,21847,21872,21938,21944,21972,22011,22075,22128,22170,22217,22231,22261,22275,22286,22300 nsv829199 22 35473868 35474632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430304 S 31 0 1 "" AK14 dgv768n67 22 35474414 35477142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829201,nsv829200 M 31 0 5 "" AK10,AK16,AK18,AK4,NA18566 nsv829202 22 35474776 35475604 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431373 S 31 0 1 "" NA18968 nsv514969 22 35474892 35475100 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628373 S 1414 0 1 "" esv2008421 22 35476836 35477896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549890 S 1 0 1 "" NA18507 esv1308743 22 35477523 35477523 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902503 S 2 1 0 "" HuRef nsv3618 22 35501113 35535701 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4587 S 9 1 0 IFT27,PVALB NA12878 dgv1403e1 22 35505100 35539316 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11201,essv22962,essv24671,essv24410,essv17848,essv19024 M 271 0 0 PVALB NA07357,NA10831,NA11829,NA12005,NA12707,NA19204 dgv1404e1 22 35505100 35574718 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20283,essv18070,essv875,essv4183,essv17925,essv5580,essv15742,essv19672,essv11722,essv10162,essv14293,essv24927,essv23043,essv16365,essv6584,essv586,essv18264,essv3389,essv23139,essv21431,essv22476 M 271 0 0 PVALB NA06994,NA10846,NA12003,NA12144,NA12145,NA12264,NA12717,NA12761,NA12812,NA12891,NA18526,NA18529,NA18621,NA18945,NA18998,NA19000,NA19130,NA19131,NA19154,NA19193,NA19194 dgv1405e1 22 35505100 35690851 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21863,essv7188,essv10753,esv360,essv18236,essv19493,essv17473 M 271 0 0 CSF2RB,NCF4,PVALB NA11839,NA12057,NA12762,NA12864,NA18523,NA18547 esv2949 22 35525940 35526467 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25390 S 1 0 1 Single Asian sample YH "" YH esv1355840 22 35526007 35526158 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186377 S 2 0 1 "" HuRef nsv522590 22 35526917 35528822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705979 S 2026 0 1 PVALB nsv3619 22 35582513 35603653 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1643 S 9 1 0 NCF4 NA19240 nsv459881 22 35588449 35601748 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536542 S 1557 0 1 NCF4 NINDS_51 nsv915009 22 35589305 35626075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557382,nssv1535357,nssv1544805 M 6533 3 0 NCF4 MS12170,MS16506,MS22644 nsv3621 22 35606847 35618641 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7745 S 9 0 1 "" NA12156 nsv915010 22 35646422 35680827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547104 S 6533 0 1 CSF2RB MS17208 esv2487581 22 35684801 35685406 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297420 S 1 1 0 "" NA18507 nsv435939 22 35690120 35690941 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465779 S 2 1 0 "" NA15510 nsv834187 22 35691590 35889246 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456085 S 95 0 1 C22orf33,IL2RB,KCTD17,LOC100506241,MPST,TMPRSS6,TST esv34015 22 35692036 35915790 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C1QTNF6,C22orf33,IL2RB,KCTD17,LOC100506241,MPST,TMPRSS6,TST nsv459882 22 35693910 35887384 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536543 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C22orf33,IL2RB,KCTD17,LOC100506241,MPST,TMPRSS6,TST HGDP00627 nsv915011 22 35717451 35736851 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517569,nssv1507281 M 6533 0 2 C22orf33 SP54516,SP57322 nsv829203 22 35724113 36499275 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432625 S 31 0 1 C1QTNF6,C22orf33,CARD10,CDC42EP1,CYTH4,ELFN2,GGA1,IL2RB,KCTD17,LGALS1,LGALS2,MFNG,MPST,NOL12,PDXP,RAC2,SH3BP1,SSTR3,TMPRSS6,TRIOBP,TST AK20 dgv4960n71 22 35737473 35846316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915014,nsv915012,nsv915013 M 6533 0 3 KCTD17,MPST,TMPRSS6,TST IS37646,MS16153,MS17208 nsv3622 22 35738256 35769656 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6984 S 9 1 0 MPST,TST NA12156 nsv915015 22 35783202 35827539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531058 S 6533 0 1 KCTD17,TMPRSS6 MS10311 nsv915016 22 35799537 35869074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529906 S 6533 0 1 IL2RB,TMPRSS6 MS10123 esv24599 22 35823634 35824314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12475 S 451 0 2 TMPRSS6 NA06985,NA12044 nsv915017 22 35858552 35869074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506622 S 6533 1 0 IL2RB SP54381 nsv915018 22 35906005 35930509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589791 S 6533 0 1 C1QTNF6 IS38403 nsv915019 22 35906005 35941753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564350 S 6533 0 1 C1QTNF6,SSTR3 IS30197 nsv915020 22 35912151 35962126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580982 S 6533 0 1 C1QTNF6,RAC2,SSTR3 IS35484 nsv834188 22 35936644 36122165 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456086 S 95 0 1 CYTH4,ELFN2,RAC2,SSTR3 nsv459883 22 35941753 35968906 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536544 S 1557 0 1 RAC2 NINDS_78 esv259540 22 35946709 35946977 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394115,essv2393914,essv2393861,essv2393712,essv2394267 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv260034 22 35946721 35946994 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398088,essv2397344,essv2401081,essv2396898,essv2396604,essv2397873,essv2399471,essv2394704,essv2395374,essv2398171,essv2395967,essv2400546 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA12878,NA12891,NA12892,NA18507,NA18577,NA18858,NA18870,NA18916,NA18949,NA19238,NA19240 esv22099 22 35948567 35951090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20950 S 451 0 1 "" NA12239 nsv513590 22 35952798 35952862 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626842 S 1 1 0 RAC2 1 nsv528767 22 35968906 35980790 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705431 S 2026 1 0 RAC2 esv1002006 22 35969216 35969888 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586982 S 3 0 1 RAC2 HuRef nsv519765 22 35978628 35980790 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689979,nssv658386,nssv695555 M 2026 2 1 "" nsv520286 22 35978628 35987485 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697326 S 2026 1 0 "" nsv834189 22 36009435 36173329 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456088,nssv1456087 M 95 1 1 CYTH4,ELFN2 nsv817992 22 36009617 36137249 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415720 S 112 1 0 CYTH4,ELFN2 NA12248 nsv834190 22 36018992 36145446 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456093,nssv1456107,nssv1456092,nssv1456091,nssv1456089,nssv1456090,nssv1456095,nssv1456094,nssv1456098,nssv1456097,nssv1456096,nssv1456101,nssv1456100,nssv1456106,nssv1456105,nssv1456104,nssv1456103,nssv1456102,nssv1456113,nssv1456112,nssv1456110,nssv1456108,nssv1456111,nssv1456109,nssv1456115,nssv1456114,nssv1456099 M 95 0 27 CYTH4,ELFN2 nsv471196 22 36022884 36123460 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545561,nssv545563,nssv545562 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYTH4,ELFN2 HGDP00546,HGDP00550,HGDP00657 dgv4961n71 22 36029323 36123354 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915022,nsv915021 M 6533 0 2 CYTH4,ELFN2 MS16153,MS17208 nsv915023 22 36046583 36157142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580983 S 6533 0 1 ELFN2 IS35484 esv269923 22 36046907 36047192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493270,essv2502938,essv2493602,essv2501063,essv2505804,essv2509294,essv2495512,essv2498952,essv2512083,essv2498044,essv2502154 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18507,NA18517,NA18856,NA18861,NA18909,NA18916,NA19114,NA19238,NA19240,NA19257 esv274343 22 36046907 36047199 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580083,essv2580337,essv2580030 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv528254 22 36064398 36078340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704820 S 2026 0 1 "" esv22685 22 36074366 36080106 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13867 S 451 0 3 "" NA06985,NA07037,NA12006 esv2422033 22 36078340 36079892 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5089120,essv5092487,essv5154570,essv5123640,essv5048863,essv5145144,essv5107217,essv5131678,essv5056098,essv5036042,essv5091703,essv5087769,essv5011995,essv5065595,essv5068582,essv5122558,essv5062119,essv5093327,essv5144511,essv5054709,essv5097685,essv5117623,essv5045334,essv5125936,essv5009620,essv5086480,essv5093483,essv5136446,essv5089025,essv5091921,essv5096999,essv5141065,essv5150726,essv5082355,essv5149159,essv5124850,essv5007420,essv5137534,essv5093403,essv5053772,essv5108032,essv5071186,essv5060030,essv5054628,essv5076362 M 1184 0 45 "" NA06985,NA06991,NA06995,NA07037,NA07055,NA07348,NA07357,NA07435,NA10835,NA10854,NA10865,NA11839,NA11840,NA11891,NA11918,NA12006,NA12249,NA12273,NA12282,NA12347,NA12375,NA12864,NA12873,NA19657,NA19678,NA19680,NA19681,NA19683,NA19725,NA19760,NA20282,NA20284,NA20289,NA20290,NA20301,NA20519,NA20760,NA20787,NA20801,NA20872,NA21307,NA21526,NA21576,NA21620,NA21722 dgv4962n71 22 36088282 36124215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915025,nsv915024 M 6533 0 2 ELFN2 MS10311,SP54956 esv1001650 22 36090283 36096077 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564829 S 3 0 1 ELFN2 HuRef dgv4963n71 22 36101931 36137249 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915026,nsv915027 M 6533 0 2 ELFN2 MS13770,SP50159 nsv915028 22 36113297 36306737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550052 S 6533 0 1 CARD10,CDC42EP1,ELFN2,LGALS2,MFNG MS18276 nsv915029 22 36123112 36157142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571606 S 6533 0 1 ELFN2 IS32737 esv33451 22 36127261 36127453 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94833,essv99259 M 51 2 0 ELFN2 21791,22275 esv2496764 22 36217106 36217970 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267766 S 1 1 0 CARD10 NA18507 nsv512657 22 36235361 36238267 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625275 S 1 0 1 CARD10 1 esv3438 22 36235603 36236417 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25879 S 1 0 1 Single Asian sample YH CARD10 YH esv5893 22 36235646 36236112 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28334 S 1 0 1 CARD10 SJK esv1010487 22 36235748 36235866 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572286 S 3 0 1 CARD10 HuRef esv1582981 22 36235886 36236005 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762420 S 2 0 1 CARD10 HuRef esv1053241 22 36255087 36255087 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039312 S 2 1 0 "" HuRef nsv834191 22 36259726 36443297 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456117,nssv1456116 M 95 0 2 CDC42EP1,GGA1,LGALS1,LGALS2,NOL12,PDXP,SH3BP1,TRIOBP nsv915030 22 36296006 36333570 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578774 S 6533 0 1 LGALS2 IS34896 nsv523705 22 36310440 36315673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699514 S 2026 0 1 "" nsv817993 22 36310440 36315673 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416416 S 112 0 1 "" NA19141 esv28996 22 36313011 36314272 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14768 S 451 0 1 "" NA19129 dgv4964n71 22 36326726 36407664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915036,nsv915031,nsv915037 M 6533 0 3 GGA1,LGALS1,PDXP,SH3BP1 IS33504,MS18276,SP54956 nsv471197 22 36326726 36488687 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545564 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GGA1,LGALS1,NOL12,PDXP,SH3BP1,TRIOBP HGDP00661 dgv4965n71 22 36326726 36584540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915033,nsv915032,nsv915034 M 6533 0 3 ANKRD54,EIF3L,GALR3,GCAT,GGA1,H1F0,LGALS1,MIR658,MIR659,NOL12,PDXP,SH3BP1,TRIOBP IS33684,IS39233,MS10311 nsv915035 22 36326726 36853011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580984 S 6533 0 1 ANKRD54,BAIAP2L2,C22orf23,EIF3L,GALR3,GCAT,GGA1,H1F0,LGALS1,MICALL1,MIR4534,MIR658,MIR659,NOL12,PDXP,PICK1,PLA2G6,POLR2F,SH3BP1,SLC16A8,SOX10,TRIOBP IS35484 dgv1406e1 22 36333823 36595824 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9188,essv20670,esv181,essv10635,essv17286,essv9810,essv15502 M 271 0 0 ANKRD54,EIF3L,GALR3,GCAT,GGA1,H1F0,LGALS1,MIR658,MIR659,NOL12,PDXP,SH3BP1,TRIOBP NA12892,NA18505,NA18855,NA18856,NA18863,NA19128 nsv915038 22 36362655 36392058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511139 S 6533 0 1 PDXP,SH3BP1 SP54988 esv26329 22 36384380 36385123 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12061 S 451 0 1 PDXP NA12239 nsv528985 22 36400989 36421606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705685 S 2026 0 1 LGALS1,NOL12 nsv915039 22 36435927 36505423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578097 S 6533 1 0 TRIOBP IS34658 nsv9903 22 36448908 36450969 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27985 S 31 0 1 Samples from several populations that are part of the HapMap project. TRIOBP NA18517 esv1471410 22 36449737 36449884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719393 S 2 0 1 TRIOBP HuRef dgv4966n71 22 36464112 36571378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915049,nsv915050 M 6533 0 2 ANKRD54,GALR3,GCAT,H1F0,MIR658,TRIOBP MS18276,SP54956 nsv9904 22 36471517 36473966 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27912,nssv22981,nssv26289 M 31 2 1 Samples from several populations that are part of the HapMap project. TRIOBP NA11830,NA12872,NA18972 dgv4967n71 22 36525542 36555694 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915051,nsv915052 M 6533 0 6 GALR3,GCAT,H1F0 SP51109,SP54043,SP54591,SP54672,SP54725,SP55021 nsv191391 22 36585349 36589056 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209969 M 24 EIF3L nsv829204 22 36623663 36628926 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428795 S 31 0 1 "" AK10 nsv915053 22 36674638 36816975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597379 S 6533 0 1 BAIAP2L2,C22orf23,MIR4534,PICK1,POLR2F,SLC16A8,SOX10 IS40799 nsv834193 22 36723282 36898043 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456120,nssv1456121,nssv1456119,nssv1456118,nssv1456122 M 95 0 5 BAIAP2L2,PICK1,PLA2G6,SLC16A8 nsv915054 22 36729925 36810605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579044 S 6533 0 1 PICK1,SLC16A8 IS35007 dgv4968n71 22 36729925 36868768 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915056,nsv915057,nsv915055 M 6533 0 4 BAIAP2L2,PICK1,PLA2G6,SLC16A8 IS33684,IS39233,IS41410,MS17208 nsv471198 22 36745667 36875565 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545566,nssv545567 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAIAP2L2,PICK1,PLA2G6,SLC16A8 HGDP00661,HGDP00978 dgv4969n71 22 36781026 36873399 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915059,nsv915058 M 6533 0 2 BAIAP2L2,PICK1,PLA2G6,SLC16A8 IS38403,MS10311 nsv834194 22 36789448 36966456 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456130,nssv1456125,nssv1456124,nssv1456132,nssv1456123,nssv1456131,nssv1456128,nssv1456127,nssv1456126,nssv1456129 M 95 0 10 BAIAP2L2,MAFF,PICK1,PLA2G6,SLC16A8,TMEM184B nsv527871 22 36804642 36810605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704370 S 2026 0 1 SLC16A8 nsv829205 22 36816231 36831922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435626 S 31 0 1 BAIAP2L2 NA18942 nsv829206 22 36817292 36822968 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422897 S 31 1 0 BAIAP2L2 NA18969 nsv508732 22 36822308 36906144 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623848 S 4 1 0 BAIAP2L2,PLA2G6 NA18994 nsv3623 22 36831488 36839754 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7746 S 9 1 0 BAIAP2L2,PLA2G6 NA12156 esv996111 22 36834935 36838277 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564541 S 3 1 0 BAIAP2L2,PLA2G6 HuRef nsv513591 22 36835881 36836251 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626843 S 1 1 0 BAIAP2L2 1 esv1386806 22 36836007 36836007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290424 S 2 1 0 BAIAP2L2 HuRef nsv519015 22 36898952 36936726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696483 S 2026 0 1 MAFF,PLA2G6 nsv915060 22 36921136 36951402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510454 S 6533 0 1 MAFF,TMEM184B SP54956 esv989237 22 36927247 36939849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564007 S 3 0 1 MAFF HuRef nsv514970 22 36939384 36939832 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627209 S 1414 0 0 MAFF nsv915061 22 36977585 37062770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586128 S 6533 0 1 CSNK1E,TMEM184B IS37646 nsv915062 22 37010307 37108911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599171,nssv1580985 M 6533 0 2 CSNK1E,LOC400927 IS35484,IS41410 nsv834195 22 37026317 37216382 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456133 S 95 0 1 CSNK1E,DDX17,KCNJ4,KDELR3,LOC400927 esv29271 22 37088354 37113046 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10453 S 451 0 1 LOC400927 NA12287 nsv915063 22 37120312 37161150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510455 S 6533 0 1 KCNJ4,LOC400927 SP54956 dgv4970n71 22 37120312 37207407 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915065,nsv915064 M 6533 0 3 KCNJ4,KDELR3,LOC400927 MS16153,MS17208,SP54988 nsv817994 22 37139431 37195809 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415721 S 112 1 0 KCNJ4,KDELR3 NA12248 nsv819157 22 37152369 37153311 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419131 S 2 1 0 KCNJ4 AK1 nsv915066 22 37171282 37327829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532555 S 6533 0 1 DDX17,DMC1,KCNJ4,KDELR3,LOC646851 MS10769 esv1003190 22 37237268 37259178 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564922 S 3 0 0 DMC1 HuRef nsv3624 22 37278132 37328728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7747,nssv2373 M 9 0 2 DMC1,LOC646851 NA12156,NA18555 esv28829 22 37286106 37294853 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18150 S 451 0 1 DMC1 NA12006 esv1691892 22 37339375 37339375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321400 S 2 1 0 LOC646851 HuRef nsv3625 22 37351788 37377277 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10324 S 9 1 0 LOC646851 NA18956 nsv508733 22 37353203 37410411 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618143,nssv619879,nssv621151 M 4 3 0 CBY1,LOC646851,TOMM22 CHM,NA10860,NA15510 nsv915067 22 37362294 37546247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553481 S 6533 0 1 CBY1,DNAL4,GTPBP1,JOSD1,LOC646851,NPTXR,SUN2,TOMM22 MS20042 nsv499372 22 37370267 37370520 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585622 S 9 1 0 LOC646851 esv997907 22 37370287 37370364 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564766 S 3 1 0 LOC646851 HuRef esv28880 22 37374610 37380451 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15192 S 451 1 0 LOC646851 NA12414 nsv915068 22 37445619 37575529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531062 S 6533 0 1 DNAL4,GTPBP1,NPTXR,SUN2 MS10311 dgv769n67 22 37455353 37615231 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829209,nsv829207 M 31 2 0 CBX6,DNAL4,GTPBP1,NPTXR,SUN2 NA18968,NA18969 esv991516 22 37455887 37466836 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564262 S 3 0 1 GTPBP1,SUN2 HuRef nsv471199 22 37485819 37598731 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545568 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CBX6,DNAL4,NPTXR HGDP01412 nsv915069 22 37502057 37605946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586129 S 6533 0 1 CBX6,DNAL4,NPTXR IS37646 nsv915070 22 37529882 37662175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552428 S 6533 0 1 CBX6,NPTXR MS19414 esv1574182 22 37533050 37533404 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902549 S 2 0 1 "" HuRef nsv915071 22 37560830 37605209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510456 S 6533 0 1 CBX6,NPTXR SP54956 nsv915072 22 37575564 37598731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499974 S 6533 0 1 CBX6 SP50159 dgv4971n71 22 37583427 37605209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915074,nsv915073,nsv915075 M 6533 0 4 CBX6 SP54725,SP54967,SP54988,SP55021 nsv520961 22 37589978 37598731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686005,nssv678793 M 2026 0 2 CBX6 nsv525343 22 37589978 37611582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701461 S 2026 0 1 CBX6 nsv829210 22 37591513 37591950 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432626 S 31 0 1 CBX6 AK20 nsv521128 22 37605946 37611582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694083 S 2026 0 1 "" nsv915076 22 37605946 37636576 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584653,nssv1593639,nssv1598005,nssv1569290,nssv1597467,nssv1597862,nssv1588704 M 6533 0 7 "" IS31554,IS37103,IS38235,IS39464,IS41043,IS41113,IS41224 nsv915077 22 37605946 37662175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568001 S 6533 0 1 "" IS31179 nsv9905 22 37621779 37632501 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27948,nssv22980,nssv25391,nssv22595,nssv24853,nssv23009,nssv26160,nssv26306,nssv25922,nssv27371 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18972,NA18980 nsv511637 22 37621804 37636026 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626271 S 1 0 1 "" 1 esv1010143 22 37623688 37629094 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564142 S 3 0 1 "" HuRef esv23720 22 37623842 37628611 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17868 S 451 0 14 "" NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510 nsv829211 22 37623889 37626971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422919,nssv1422339,nssv1438562,nssv1428797,nssv1423926,nssv1429537,nssv1439433,nssv1433392,nssv1437912,nssv1437200,nssv1428003 M 31 0 11 "" AK10,AK12,AK8,NA18542,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 nsv512658 22 37623949 37628691 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625276 S 1 0 1 "" 1 esv5653 22 37624053 37628635 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28094 S 1 0 1 "" SJK esv33184 22 37624118 37626778 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101612,essv97463,essv101267,essv100816,essv101064,essv95219,essv98302,essv94676,essv94457,essv97058,essv97942,essv95701,essv93029,essv101721,essv94610,essv96117,essv98578,essv93577,essv93395,essv99670,essv94965,essv92577,essv99263,essv100264,essv98454,essv94177 M 51 16 10 "" 21603,21616,21618,21656,21693,21721,21772,21791,21808,21817,21837,21841,21863,21909,21932,22007,22085,22128,22170,22217,22231,22233,22275,22286,22352,22394 nsv514971 22 37625184 37626808 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628374 S 1414 0 1 "" esv2422003 22 37625201 37626850 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5146555,essv5148996,essv5098129,essv5005199,essv5050327,essv5079216,essv5062838,essv5064079,essv5050181,essv5007106,essv5049803,essv5075707,essv5010442,essv5041343,essv5147169,essv5006803,essv5092769,essv5070783,essv5042680,essv5147100,essv5063805,essv5033828,essv5102195,essv5079839,essv5093006,essv5072055,essv5106183,essv5073664,essv5039525,essv5082406,essv5042011,essv5138764,essv5127193,essv5023697,essv5154376,essv5044254,essv5158183,essv5097897,essv5103403,essv5020918,essv5137396,essv5094003,essv5078162,essv5112132,essv5033360,essv5054769,essv5064076,essv5021600,essv5103676,essv5116621,essv5008641,essv5097433,essv5095504,essv5076549,essv5008632,essv5023174,essv5039362,essv5132777,essv5148718,essv5007222,essv5101229,essv5104917,essv5014444,essv5105585,essv5104697,essv5061142,essv5139676,essv5092914,essv5020891,essv5073489,essv5031561,essv5122497,essv5110858,essv5010338,essv5152882,essv5111217,essv5068405,essv5018933,essv5123560,essv5149803,essv5055092,essv5126332,essv5069518,essv5102804,essv5087104,essv5042238,essv5067167,essv5106009,essv5055205,essv5123233,essv5099744,essv5088217,essv5062865,essv5075426,essv5103935,essv5119483,essv5084669,essv5062077,essv5138054,essv5048079,essv5126255,essv5081966,essv5102755,essv5044219,essv5136901,essv5143039,essv5155295,essv5033030,essv5087435,essv5016997,essv5089097,essv5105147,essv5076221,essv5098652,essv5156024,essv5067913,essv5143114,essv5138452,essv5152075,essv5044703,essv5040014,essv5086957,essv5004534,essv5051257,essv5051837,essv5088157,essv5034868,essv5067242,essv5104549,essv5086346,essv5122881,essv5103172,essv5057214,essv5051433,essv5136409,essv5034648,essv5116053,essv5128100,essv5019494,essv5083509,essv5019764,essv5124992,essv5157349,essv5037899,essv5140790,essv5138259,essv5123146,essv5008683,essv5068749,essv5078573,essv5116849,essv5022629,essv5156701,essv5011811,essv5080688,essv5088677,essv5051706,essv5112201,essv5015234,essv5144492,essv5113739,essv5008266,essv5122196,essv5021017,essv5069637,essv5136054,essv5005997,essv5002037,essv5015925,essv5053824,essv5137704,essv5118821,essv5148773,essv5146740,essv5133398,essv5064653,essv5130762,essv5031287,essv5132544,essv5070575,essv5007259,essv5133653,essv5058048,essv5066782,essv5017647,essv5042305,essv5146055,essv5074362,essv5097837,essv5022705,essv5016675,essv5105210,essv5048834,essv5141482,essv5129010,essv5032216,essv5046970,essv5145669,essv5141920,essv5086513,essv5039904,essv5006670,essv5005911,essv5135316,essv5112951,essv5018990,essv5003504,essv5079587,essv5087978,essv5122182,essv5155202,essv5107454,essv5021010,essv5053702,essv5151710,essv5117407,essv5136971,essv5091075,essv5107734,essv5140386,essv5006506,essv5060839,essv5079557,essv5107515,essv5138886,essv5068074,essv5021928,essv5063994,essv5139303,essv5160562,essv5059026,essv5066049,essv5103135,essv5136426,essv5080437,essv5124247,essv5095335,essv5157746,essv5100773,essv5150254,essv5109684,essv5075136,essv5086538,essv5087828,essv5139200,essv5022807,essv5155726,essv5038017,essv5080971,essv5133540,essv5130014,essv5091524,essv5022641,essv5152959,essv5062862,essv5136507,essv5137375,essv5083958,essv5091630,essv5026221,essv5141613,essv5137232,essv5019746,essv5064545,essv5054181,essv5051524,essv5036922,essv5068552,essv5045104,essv5079758,essv5073755,essv5089299,essv5093633,essv5022013,essv5029577,essv5078603,essv5012152,essv5057580,essv5027379,essv5088338,essv5133870,essv5063378,essv5017947,essv5158328,essv5103954,essv5052217,essv5144349,essv5074081,essv5119964,essv5148635,essv5081274,essv5011867,essv5102601,essv5093584,essv5002489,essv5091067,essv5079192,essv5032386,essv5041557,essv5149355,essv5161179,essv5019524,essv5146084,essv5123886,essv5025957,essv5015162,essv5120966,essv5076603,essv5086800,essv5032749,essv5026745,essv5160004,essv5029444,essv5129305,essv5014424,essv5021801,essv5032537,essv5095865,essv5008826,essv5108670,essv5028247,essv5076247,essv5153977,essv5108272,essv5092752,essv5058492,essv5085136,essv5037767,essv5023303,essv5069212,essv5042177,essv5138539,essv5035297,essv5053443,essv5086574,essv5043762,essv5019221,essv5068118,essv5098779,essv5014009,essv5127959,essv5027165,essv5070916,essv5004652,essv5084395,essv5026660,essv5088182,essv5092124,essv5141119,essv5153814,essv5148792,essv5056936,essv5124019,essv5119559,essv5145696,essv5147185,essv5047957,essv5130624,essv5021008,essv5124230,essv5159511,essv5067987,essv5029378,essv5062971,essv5027499,essv5032208,essv5066399,essv5105852,essv5010540,essv5042531,essv5126813,essv5037215,essv5128398,essv5039826,essv5041870,essv5134299,essv5002482,essv5136290,essv5028388,essv5152237,essv5061155,essv5105953,essv5037118,essv5009316,essv5078407,essv5125706,essv5137128,essv5127340,essv5068759,essv5146405,essv5029344,essv5007050,essv5143563,essv5007127,essv5087892,essv5147499,essv5041446,essv5019806,essv5153287 M 1184 0 399 "" NA06985,NA06989,NA06993,NA06994,NA06997,NA07000,NA07014,NA07022,NA07029,NA07037,NA07045,NA07051,NA07346,NA07347,NA07348,NA07357,NA10831,NA10835,NA10839,NA10840,NA10845,NA10846,NA10847,NA10852,NA10853,NA10854,NA10855,NA10863,NA10865,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11892,NA11893,NA11917,NA11918,NA11930,NA11931,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12144,NA12145,NA12146,NA12155,NA12234,NA12248,NA12249,NA12273,NA12282,NA12283,NA12286,NA12287,NA12335,NA12341,NA12344,NA12376,NA12383,NA12386,NA12400,NA12413,NA12489,NA12707,NA12708,NA12716,NA12718,NA12739,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12778,NA12801,NA12802,NA12813,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12864,NA12865,NA12872,NA12874,NA12891,NA12892,NA17965,NA17972,NA17976,NA17981,NA17986,NA17988,NA17989,NA17996,NA17999,NA18105,NA18106,NA18114,NA18117,NA18131,NA18134,NA18136,NA18147,NA18542,NA18544,NA18545,NA18546,NA18555,NA18558,NA18559,NA18561,NA18562,NA18571,NA18573,NA18595,NA18596,NA18608,NA18609,NA18610,NA18611,NA18618,NA18620,NA18621,NA18622,NA18631,NA18632,NA18636,NA18638,NA18647,NA18682,NA18702,NA18748,NA18749,NA18943,NA18944,NA18949,NA18951,NA18955,NA18957,NA18960,NA18962,NA18969,NA18972,NA18973,NA18977,NA18980,NA18981,NA18987,NA18993,NA18997,NA18999,NA19057,NA19065,NA19072,NA19075,NA19080,NA19081,NA19083,NA19084,NA19085,NA19376,NA19396,NA19397,NA19469,NA19472,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19665,NA19676,NA19678,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19702,NA19708,NA19716,NA19718,NA19719,NA19720,NA19721,NA19723,NA19724,NA19726,NA19727,NA19747,NA19748,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19773,NA19774,NA19775,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19788,NA19794,NA19795,NA19796,NA19835,NA19836,NA19900,NA19901,NA20277,NA20279,NA20282,NA20284,NA20287,NA20289,NA20290,NA20294,NA20297,NA20300,NA20301,NA20302,NA20322,NA20336,NA20337,NA20341,NA20346,NA20347,NA20357,NA20360,NA20502,NA20505,NA20506,NA20509,NA20515,NA20516,NA20517,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20534,NA20535,NA20540,NA20543,NA20544,NA20582,NA20588,NA20589,NA20752,NA20753,NA20756,NA20758,NA20759,NA20761,NA20766,NA20769,NA20770,NA20771,NA20772,NA20773,NA20783,NA20785,NA20786,NA20787,NA20792,NA20795,NA20796,NA20797,NA20800,NA20801,NA20802,NA20804,NA20806,NA20807,NA20808,NA20810,NA20811,NA20813,NA20816,NA20818,NA20845,NA20847,NA20850,NA20851,NA20852,NA20854,NA20856,NA20858,NA20861,NA20862,NA20866,NA20869,NA20871,NA20874,NA20875,NA20876,NA20877,NA20882,NA20885,NA20889,NA20890,NA20894,NA20896,NA20899,NA20900,NA20903,NA20909,NA20910,NA21092,NA21098,NA21099,NA21102,NA21103,NA21104,NA21106,NA21107,NA21108,NA21111,NA21112,NA21113,NA21115,NA21118,NA21119,NA21123,NA21125,NA21141,NA21144,NA21300,NA21307,NA21309,NA21313,NA21317,NA21359,NA21361,NA21362,NA21379,NA21390,NA21391,NA21421,NA21424,NA21440,NA21478,NA21480,NA21493,NA21494,NA21521,NA21524,NA21525,NA21528,NA21580,NA21587,NA21596,NA21616,NA21617 nsv442796 22 37625201 37626850 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33348 22 37636448 37636514 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98926 S 51 0 1 "" 21606 nsv3626 22 37642001 37651221 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2374 S 9 0 1 "" NA18555 esv1035522 22 37649697 37649746 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766586 S 2 0 1 "" HuRef nsv9906 22 37659009 37670912 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28061 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv915078 22 37663286 37702373 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516116 S 6533 1 0 APOBEC3A SP56457 nsv915079 22 37663286 37764853 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557102 S 6533 1 0 APOBEC3A,APOBEC3B,APOBEC3C,APOBEC3D MS22382 nsv433181 22 37673029 37677724 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463062 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv3627 22 37678031 37726530 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9613,nssv11055,nssv10325 M 9 0 3 APOBEC3A,APOBEC3B NA15510,NA18507,NA18956 nsv198 22 37680253 37726530 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv198 S 1 0 1 APOBEC3A,APOBEC3B NA15510 nsv915080 22 37681412 37764853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558258 S 6533 0 1 APOBEC3A,APOBEC3B,APOBEC3C,APOBEC3D MS23184 esv28999 22 37685753 37722446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10328 S 451 0 7 APOBEC3A,APOBEC3B NA06985,NA07045,NA11931,NA12006,NA15510,NA18523,NA19108 dgv770n67 22 37686179 37718528 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829215,nsv829213,nsv829214,nsv829217,nsv829220,nsv829212,nsv829222,nsv829216,nsv829218 M 31 0 13 APOBEC3A,APOBEC3B AK14,AK2,AK20,AK4,NA18526,NA18537,NA18542,NA18566,NA18947,NA18951,NA18968,NA18973,NA18999 esv2495318 22 37687872 37719113 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281583 S 1 0 1 APOBEC3A,APOBEC3B NA18507 dgv36n47 22 37688226 37718513 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498988,nsv498987 M 9 0 2 APOBEC3A,APOBEC3B nsv9907 22 37688509 37717943 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22625,nssv26608,nssv25973,nssv23271,nssv26104 M 31 0 5 Samples from several populations that are part of the HapMap project. APOBEC3A,APOBEC3B NA10839,NA10847,NA18537,NA18572,NA19007 nsv829221 22 37688768 37690304 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425478 S 31 0 1 APOBEC3A AK2 esv2604392 22 37688943 37716144 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336526 S 1 0 1 APOBEC3A,APOBEC3B NA18507 esv33846 22 37688997 37721878 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101582,essv98661,essv97600,essv101114,essv93961,essv100709,essv96808,essv101006,essv95142,essv98313,essv94780,essv94054,essv101281,essv96893,essv97875,essv95585,essv93044,essv95256,essv97385,essv101734,essv95846,essv94609,essv99034,essv92710,essv93752,essv96238,essv96643,essv97277,essv98632,essv95981,essv93363,essv94878,essv92507,essv96575,essv99249,essv97775,essv100253,essv100536,essv100323,essv98372,essv96255,essv94229 M 51 41 1 APOBEC3A,APOBEC3B 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21817,21837,21841,21863,21872,21879,21909,21911,21932,21938,21944,21972,22007,22011,22075,22085,22127,22170,22231,22233,22261,22275,22278,22286,22298,22300,22352,22371,22394 esv29947 22 37689058 37715431 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84186 S 3 0 1 APOBEC3A,APOBEC3B WATSON esv6265 22 37690482 37692154 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28706 S 1 0 1 APOBEC3A SJK nsv829223 22 37690752 37691902 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434845 S 31 0 1 APOBEC3A NA18570 nsv829224 22 37692788 37693696 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440100 S 31 0 1 APOBEC3A NA18537 nsv442797 22 37693565 37705253 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 APOBEC3A esv998756 22 37694527 37701717 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563651 S 3 0 1 APOBEC3A HuRef nsv829225 22 37700915 37702523 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439435 S 31 0 1 APOBEC3A NA18973 nsv438346 22 37702373 37711772 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470964,nssv470966,nssv470965,nssv470961 M 269 0 4 Samples from several populations that are part of the HapMap project. APOBEC3A,APOBEC3B NA10839,NA12006,NA12864,NA12873 nsv915081 22 37704618 37778282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599028 S 6533 1 0 APOBEC3A,APOBEC3B,APOBEC3C,APOBEC3D,APOBEC3F IS40854 nsv482077 22 37708351 37718729 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558438 S 1 1 0 APOBEC3A,APOBEC3B KB1 nsv915082 22 37716058 37757882 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516117 S 6533 1 0 APOBEC3A,APOBEC3B,APOBEC3C,APOBEC3D SP56457 nsv9908 22 37716468 37721877 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26621 S 31 0 1 Samples from several populations that are part of the HapMap project. APOBEC3A,APOBEC3B NA18537 nsv834196 22 37722515 37940950 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456134 S 95 0 1 APOBEC3C,APOBEC3D,APOBEC3F,APOBEC3G,APOBEC3H,CBX7 nsv915083 22 37729384 37789900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531063 S 6533 0 1 APOBEC3C,APOBEC3D,APOBEC3F MS10311 esv1001536 22 37744263 37744772 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586833 S 3 0 1 APOBEC3C HuRef esv22523 22 37756649 37773866 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19581 S 451 1 0 APOBEC3D,APOBEC3F NA19147 nsv915084 22 37757882 37776399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513597 S 6533 0 1 APOBEC3D,APOBEC3F SP55803 nsv522083 22 37764853 37775500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694857 S 2026 0 1 APOBEC3F nsv915085 22 37768605 37817541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506623 S 6533 1 0 APOBEC3F,APOBEC3G SP54381 nsv510807 22 37801355 37873330 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619023 S 4 0 1 APOBEC3G,APOBEC3H,CBX7 NA10860 nsv915086 22 37802489 37817541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507460 S 6533 1 0 APOBEC3G SP54650 nsv834197 22 37803245 37940950 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456135 S 95 1 0 APOBEC3G,APOBEC3H,CBX7 dgv4972n71 22 37808200 37817541 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915087,nsv915089 M 6533 2 0 APOBEC3G SP52077,SP54442 nsv915088 22 37808247 37813993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505528 S 6533 0 1 APOBEC3G SP53601 nsv915090 22 37818506 37882543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547109 S 6533 0 1 APOBEC3H,CBX7 MS17208 dgv4973n71 22 37818506 37911223 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915091,nsv915092 M 6533 0 2 APOBEC3H,CBX7 IS37646,IS39233 nsv519600 22 37901380 37916043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696944 S 2026 0 1 "" nsv525409 22 37914383 37916043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701533 S 2026 0 1 "" esv1513082 22 37937387 37937387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697480 S 2 1 0 "" HuRef esv1152536 22 37937613 37937933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903148 S 2 0 1 "" HuRef dgv4974n71 22 37942030 38038303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915093,nsv915096,nsv915094,nsv915097 M 6533 0 4 PDGFB IS30197,IS32841,IS40799,MS10311 esv1958344 22 37946157 37946489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620646 S 1 0 1 "" NA18507 esv1312215 22 37946314 37946314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784120 S 2 1 0 "" HuRef nsv834198 22 37948699 38135769 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456136 S 95 0 1 PDGFB,RNU86,RPL3,SNORD43,SNORD83A,SNORD83B,SYNGR1,TAB1 nsv915095 22 37963568 38023354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598417 S 6533 0 1 PDGFB IS41243 nsv191164 22 37995809 37995809 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209742 M 24 "" nsv834199 22 38050340 38257294 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456137,nssv1456138 M 95 0 2 ATF4,LOC100506472,MGAT3,RPS19BP1,SMCR7L,SYNGR1,TAB1 nsv829226 22 38052033 38053006 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431782,nssv1431753 M 31 0 2 "" AK18,NA18947 dgv259n21 22 38052423 38052832 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521312,nsv527010 M 2026 0 2 "" nsv915098 22 38069574 38199155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531065,nssv1543866 M 6533 0 2 LOC100506472,MGAT3,SYNGR1,TAB1 MS10311,MS16153 nsv915099 22 38069574 38496556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547110 S 6533 0 1 ATF4,CACNA1I,ENTHD1,LOC100506472,MGAT3,RPS19BP1,SMCR7L,SYNGR1,TAB1 MS17208 nsv817996 22 38088487 38123012 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415879 S 112 1 0 SYNGR1 NA11992 nsv829227 22 38120919 38123181 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423096 S 31 0 1 "" NA18552 nsv829228 22 38122652 38125379 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437297 S 31 0 1 "" NA18592 nsv471200 22 38142355 38204260 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545569 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506472,MGAT3,TAB1 HGDP00550 nsv3628 22 38161049 38194521 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7748 S 9 1 0 LOC100506472,MGAT3,TAB1 NA12156 nsv3629 22 38230018 38260534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6985 S 9 1 0 ATF4,RPS19BP1,SMCR7L NA12156 nsv834200 22 38300536 38462944 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456139,nssv1456140,nssv1456143,nssv1456142,nssv1456141 M 95 0 5 CACNA1I esv1010347 22 38323355 38327965 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565677 S 3 0 1 CACNA1I HuRef dgv4975n71 22 38333255 38422810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915102,nsv915101,nsv915100 M 6533 0 3 CACNA1I IS37646,MS18276,SP54956 dgv4976n71 22 38356255 38428790 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915107,nsv915105,nsv915104,nsv915103 M 6533 0 6 CACNA1I IS30369,IS32737,IS32841,IS33239,IS41410,MS10769 nsv915106 22 38364539 38447343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543867 S 6533 0 1 CACNA1I MS16153 esv2086990 22 38378852 38379240 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908068 S 1 0 1 CACNA1I NA18507 esv1209313 22 38424822 38424822 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932680 S 2 1 0 "" HuRef nsv510808 22 38599177 38683902 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619024 S 4 0 1 ENTHD1,GRAP2 NA10860 nsv834201 22 38649491 38857760 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456144 S 95 1 0 FAM83F,GRAP2,LOC100130899,TNRC6B esv2452848 22 38733002 38733739 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278705 S 1 1 0 FAM83F NA18507 nsv829229 22 38747218 38747858 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432628 S 31 0 1 FAM83F AK20 nsv191489 22 38778651 38783487 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210067 M 24 TNRC6B nsv829231 22 38846125 38846815 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423769 S 31 0 1 TNRC6B NA18547 nsv3630 22 38902700 38947433 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7749 S 9 0 1 TNRC6B NA12156 nsv834202 22 38905712 39111191 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456145,nssv1456146 M 95 0 2 ADSL,SGSM3,TNRC6B esv27289 22 38922313 38929637 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15363 S 451 0 1 TNRC6B NA07037 esv1923839 22 39061919 39062338 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551366 S 1 0 1 "" NA18507 nsv829232 22 39121722 39126428 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431048 S 31 0 1 SGSM3 AK16 esv22054 22 39123895 39124858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13163 S 451 0 1 SGSM3 NA18508 dgv4977n71 22 39127593 39161218 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915109,nsv915108 M 6533 2 0 MKL1,SGSM3 SP51368,SP52131 nsv829233 22 39130177 39164203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432629 S 31 0 1 MKL1,SGSM3 AK20 esv2422058 22 39203522 39210638 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038745,essv5026369,essv5117823,essv5067363,essv5029728,essv5146578,essv5066633,essv5131086,essv5093978,essv5128549,essv5017582,essv5039842,essv5110976,essv5032416,essv5145175,essv5153453,essv5105664,essv5121088,essv5072480 M 1184 0 19 MKL1 NA19046,NA19209,NA19379,NA19404,NA19430,NA21357,NA21364,NA21367,NA21381,NA21387,NA21389,NA21400,NA21401,NA21457,NA21473,NA21509,NA21583,NA21611,NA21632 nsv829234 22 39206399 39293446 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435627 S 31 0 1 MKL1 NA18942 nsv915110 22 39207581 39282802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514741 S 6533 0 1 MKL1 SP56047 nsv829235 22 39208143 39210850 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436311 S 31 1 0 MKL1 NA18566 dgv771n67 22 39212082 39294279 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829237,nsv829236 M 31 2 0 MKL1 NA18968,NA18969 nsv459886 22 39216690 39326313 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536547 S 1557 0 1 MKL1 1780862306_A nsv3634 22 39259285 39283150 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3085 S 9 1 0 MKL1 NA18555 nsv829238 22 39289824 39290443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423781 S 31 0 1 MKL1 NA18547 nsv834205 22 39319369 39503392 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456148,nssv1456147 M 95 1 1 MCHR1,MKL1,SLC25A17 nsv915111 22 39357765 39493054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600280 S 6533 0 1 MCHR1,MKL1 IS41866 nsv915112 22 39357765 39552136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528651 S 6533 0 1 MCHR1,MIR4766,MKL1,SLC25A17,ST13 SP81335 nsv523335 22 39418818 39433559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699081 S 2026 0 1 "" dgv4978n71 22 39422215 39552136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915114,nsv915113 M 6533 0 3 MIR4766,SLC25A17,ST13 IS34805,IS37639,MS19685 nsv834206 22 39422672 39564831 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456149 S 95 1 0 MIR4766,SLC25A17,ST13 nsv915115 22 39438081 39532082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572057 S 6533 1 0 SLC25A17 IS32843 esv2587299 22 39469481 39473460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358527 S 1 0 1 "" NA18507 esv2310492 22 39469878 39472766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884024 S 1 0 1 "" NA18507 esv7887 22 39470090 39472588 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30328 S 1 0 1 "" SJK esv275375 22 39475550 39483110 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585375 S 1250 0 1 "" nsv428389 22 39610056 39701669 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454004 S 62 0 1 RBX1,XPNPEP3 HGDP00460 nsv3635 22 39635904 39639926 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4588 S 9 1 0 XPNPEP3 NA12878 nsv524585 22 39719455 40520255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700543 S 2026 0 1 ACO2,C22orf46,CHADL,CSDC2,EP300,L3MBTL2,MEI1,MIR1281,NHP2L1,PHF5A,PMM1,POLR3H,PPPDE2,RANGAP1,TEF,TOB2,XRCC6,ZC3H7B esv1000805 22 39776167 39779246 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565102 S 3 1 0 "" HuRef esv1142503 22 39776298 39776298 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955688 S 2 1 0 "" HuRef nsv3636 22 39848329 39881716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7750 S 9 1 0 EP300 NA12156 nsv915116 22 39904329 40066213 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586132 S 6533 0 1 CHADL,EP300,L3MBTL2,RANGAP1,ZC3H7B IS37646 esv1411623 22 39926346 39927111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336917 S 2 0 1 "" HuRef nsv915117 22 39956609 39975703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510458 S 6533 0 1 CHADL,L3MBTL2,RANGAP1 SP54956 nsv915118 22 39957489 40089272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574026 S 6533 0 1 CHADL,RANGAP1,ZC3H7B IS33504 nsv915119 22 39957489 40159494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543868 S 6533 0 1 CHADL,RANGAP1,TEF,TOB2,ZC3H7B MS16153 nsv459888 22 39957489 40180446 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536548 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHADL,RANGAP1,TEF,TOB2,ZC3H7B HGDP00143 nsv817997 22 39970243 40092816 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415722 S 112 1 0 RANGAP1,ZC3H7B NA12248 nsv516925 22 39978448 40311903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682237,nssv694978,nssv680090,nssv683652,nssv682330,nssv655008,nssv705813,nssv674538 M 2026 0 8 ACO2,CSDC2,PHF5A,PMM1,POLR3H,RANGAP1,TEF,TOB2,ZC3H7B nsv3637 22 39982598 40026837 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2375 S 9 0 1 RANGAP1 NA18555 nsv915120 22 39997673 40089272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547111 S 6533 0 1 RANGAP1,ZC3H7B MS17208 nsv834207 22 40008600 40189740 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456151,nssv1456152,nssv1456150 M 95 0 3 PHF5A,RANGAP1,TEF,TOB2,ZC3H7B nsv3638 22 40011195 40035638 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4589,nssv7751 M 9 2 0 RANGAP1,ZC3H7B NA12156,NA12878 nsv915154 22 40014372 40127704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550056 S 6533 0 1 TEF,ZC3H7B MS18276 dgv772n67 22 40016625 40033963 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829239,nsv829240 M 31 2 0 ZC3H7B AK10,AK6 nsv508734 22 40023330 40023330 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621152 S 4 1 0 "" NA15510 nsv507937 22 40024814 40030814 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621984 S 4 1 0 ZC3H7B NA10860 esv991010 22 40025832 40026620 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564577 S 3 1 0 "" HuRef esv1093368 22 40026469 40026469 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188545 S 2 1 0 "" HuRef nsv829242 22 40027551 40029103 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422952 S 31 1 0 ZC3H7B NA18969 nsv834208 22 40089562 40279978 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456154,nssv1456155,nssv1456153,nssv1456157,nssv1456158,nssv1456156 M 95 0 6 ACO2,PHF5A,POLR3H,TEF,TOB2 nsv834209 22 40289466 40472006 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456159 S 95 0 1 C22orf46,CSDC2,MEI1,NHP2L1,PMM1,PPPDE2,XRCC6 nsv3639 22 40297759 40328821 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6986 S 9 1 0 CSDC2,PMM1,PPPDE2 NA12156 nsv915155 22 40400739 40540931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552808 S 6533 0 1 C22orf46,CCDC134,MEI1,NHP2L1 MS19630 esv273219 22 40465473 40465558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581203 S 7 1 0 Samples from several populations that are part of the HapMap project. MEI1 NA19240 esv2451668 22 40469574 40471080 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163455 S 1 0 1 MEI1 NA18507 dgv110n6 22 40470225 40470614 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv191380,nsv191513 M 24 MEI1 esv2134270 22 40470313 40470962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4714250 S 1 0 1 MEI1 NA18507 esv3963 22 40470378 40470941 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26404 S 1 0 1 Single Asian sample YH MEI1 YH esv2439659 22 40470435 40470756 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336469 S 1 0 1 MEI1 NA18507 esv1676083 22 40470437 40470759 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946720 S 2 0 1 MEI1 HuRef esv8122 22 40470439 40470747 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30563 S 1 0 1 MEI1 SJK nsv3640 22 40496848 40532154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1644 S 9 1 0 CCDC134,MEI1 NA19240 nsv191436 22 40561182 40561182 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210014 M 24 SREBF2 nsv508736 22 40615416 40688127 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623849 S 4 1 0 BK250D10.8,CENPM,MIR33A,SHISA8,SREBF2,TNFRSF13C NA18994 dgv4979n71 22 40619412 40714071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915157,nsv915156 M 6533 0 3 BK250D10.8,CENPM,MIR33A,SEPT3,SHISA8,SREBF2,TNFRSF13C IS32841,IS33504,MS16153 dgv4980n71 22 40627914 40659930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915159,nsv915160,nsv915158 M 6533 0 3 SHISA8,SREBF2,TNFRSF13C SP54725,SP54956,SP54988 esv2543828 22 40665496 40666061 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189488 S 1 1 0 CENPM NA18507 esv1711771 22 40665796 40665796 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188885 S 2 1 0 CENPM HuRef nsv508737 22 40777957 40860286 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619880,nssv623851 M 4 2 0 C22orf32,CYP2D6,FAM109B,LOC100132273,NAGA,NDUFA6 NA10860,NA18994 nsv834210 22 40783279 40935050 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456160 S 95 0 1 C22orf32,CYP2D6,CYP2D7P1,FAM109B,LOC100132273,NAGA,NDUFA6,TCF20 nsv915161 22 40791133 40854891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575242 S 6533 0 1 C22orf32,CYP2D6,FAM109B,LOC100132273,NAGA,NDUFA6 IS33684 dgv4981n71 22 40791133 40882197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915162,nsv915163 M 6533 0 3 C22orf32,CYP2D6,CYP2D7P1,FAM109B,LOC100132273,NAGA,NDUFA6 IS32322,IS32841,MS16153 nsv3641 22 40825416 40872241 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9376,nssv2376 M 9 0 2 CYP2D6,CYP2D7P1,LOC100132273 NA18517,NA18555 nsv915164 22 40837694 40882197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572722 S 6533 0 1 CYP2D6,CYP2D7P1,LOC100132273 IS33162 nsv3642 22 40841447 40854242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9872,nssv2377 M 9 2 0 CYP2D6,LOC100132273 NA18507,NA18555 esv2750689 22 40844510 40848539 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93771 S 51 0 1 LOC100132273 21972 esv2201357 22 40845055 40845454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516526 S 1 0 1 LOC100132273 NA18507 esv27312 22 40847202 40880464 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14326,esv10105,esv15978,esv14875 M 451 7 5 CYP2D6,CYP2D7P1,LOC100132273 NA06985,NA07037,NA12489,NA12776,NA12878,NA18502,NA18508,NA18861,NA18907,NA18909,NA19108,NA19190 nsv829243 22 40847202 40880464 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422340,nssv1424715,nssv1423098,nssv1437308,nssv1439436,nssv1432630,nssv1431764,nssv1438565,nssv1429538,nssv1437913,nssv1431052,nssv1428799,nssv1435628,nssv1425479,nssv1423929,nssv1434846,nssv1433393,nssv1428004,nssv1436312,nssv1427229,nssv1426355,nssv1440101 M 31 0 22 CYP2D6,CYP2D7P1,LOC100132273 AK10,AK12,AK16,AK2,AK20,AK4,AK6,AK8,NA18537,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18997,NA18999 nsv915165 22 40848370 40861154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508356 S 6533 0 1 CYP2D6,LOC100132273 SP54684 nsv498989 22 40849158 40861324 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585850 S 9 0 1 CYP2D6,LOC100132273 nsv436350 22 40851780 40861400 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465780 S 2 0 1 Samples from several populations that are part of the HapMap project. CYP2D6 NA18505 esv2171396 22 40851860 40865824 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862582 S 1 0 1 CYP2D6 NA18507 esv6632 22 40852062 40865751 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29073 S 1 0 1 CYP2D6 SJK esv33893 22 40852566 40868172 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93878,essv93111,essv97404,essv97174,essv93414,essv92634,essv97670,essv97737,essv96372 M 51 3 5 CYP2D6,CYP2D7P1 21634,21863,21879,22075,22170,22233,22278,22371 nsv3643 22 40860422 40923524 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2380,nssv10326,nssv10327,nssv10328,nssv2378,nssv4590 M 9 3 0 CYP2D7P1,TCF20 NA12878,NA18555,NA18956 nsv834211 22 40935061 41111951 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456161 S 95 0 1 LOC388906,NFAM1,TCF20 esv259972 22 40948204 40949546 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399210 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18508 nsv829244 22 40979563 41106456 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422963 S 31 1 0 LOC388906,NFAM1 NA18969 dgv4982n71 22 40985321 41025949 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915166,nsv915170,nsv915167 M 6533 0 3 LOC388906 MS17208,SP54956,SP54988 nsv915168 22 40987510 41084818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574028 S 6533 0 1 LOC388906 IS33504 nsv915169 22 40987510 41178298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543871 S 6533 0 1 LOC388906,NFAM1 MS16153 nsv517421 22 41021240 41025092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651970,nssv681062,nssv678623,nssv668156 M 2026 0 4 "" nsv525176 22 41024164 41025949 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701252 S 2026 0 1 "" esv28587 22 41046294 41046804 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14934 S 451 1 0 "" NA12489 esv24933 22 41047344 41050385 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12580 S 451 0 2 "" NA06985,NA12828 esv2531511 22 41049979 41050499 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265861 S 1 1 0 "" NA18507 nsv829245 22 41049996 41050505 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423793 S 31 0 1 "" NA18547 esv2642115 22 41074609 41076696 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188726 S 1 0 1 "" NA18507 esv997965 22 41096516 41099611 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564162 S 3 0 1 "" HuRef dgv1407e1 22 41097145 41413250 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10034,essv1863,essv14893,essv11825,essv7385,essv2515,essv3033,essv5377,essv16726,essv4487,essv11590,essv9340,esv576,essv13872,essv18178,essv9120,essv15298,essv9803,essv9707,essv2351,essv22156,essv11675,essv9023,essv16485,essv22185 M 271 0 0 ATP5L2,CYB5R3,NFAM1,POLDIP3,RNU12,RRP7A,RRP7B,SERHL,SERHL2 NA10857,NA12044,NA12057,NA18521,NA18522,NA18552,NA18563,NA18623,NA18853,NA18854,NA18860,NA18862,NA18863,NA18913,NA18940,NA18976,NA18981,NA19003,NA19099,NA19132,NA19142,NA19154,NA19173,NA19210 nsv428391 22 41097245 41424152 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454007,nssv454006,nssv454010,nssv454005 M 62 4 0 A4GALT,ATP5L2,CYB5R3,NFAM1,POLDIP3,RNU12,RRP7A,RRP7B,SERHL,SERHL2 HGDP00473,NA18498,NA19108,NA19147 nsv817998 22 41118260 41157703 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415723 S 112 1 0 NFAM1 NA12248 nsv915171 22 41118260 41178298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547113 S 6533 0 1 NFAM1 MS17208 nsv9909 22 41150423 41158755 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25640 S 31 0 1 Samples from several populations that are part of the HapMap project. NFAM1 NA18552 essv4940 22 41165671 41370378 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATP5L2,CYB5R3,POLDIP3,RNU12,RRP7A,RRP7B,SERHL,SERHL2 NA18537 nsv9910 22 41172075 41174964 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28162 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 esv32632 22 41201041 41300437 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98931,essv94717,essv101370,essv94471,essv93036,essv92958,essv93635,essv99585,essv94984,essv99187,essv100155,essv100509,essv98351,essv94168 M 51 14 0 RRP7A,RRP7B,SERHL,SERHL2 21606,21791,21805,21808,21863,21939,21972,22217,22231,22275,22286,22298,22352,22394 nsv522520 22 41201059 41202030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705890 S 2026 0 1 "" nsv9911 22 41204090 41209457 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28164 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 esv28197 22 41209145 41335158 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17594,esv11569,esv14437,esv12735 M 451 13 0 POLDIP3,RRP7A,RRP7B,SERHL,SERHL2 NA06985,NA12044,NA12287,NA12414,NA18502,NA18505,NA18511,NA18517,NA18858,NA19099,NA19108,NA19114,NA19147 nsv9912 22 41213281 41311517 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26041,nssv27868,nssv26042,nssv28064,nssv28168,nssv26459,nssv27990,nssv25471,nssv25761,nssv26634,nssv28166,nssv22655,nssv27954,nssv26209,nssv26123,nssv26647,nssv26323,nssv25416 M 31 14 1 Samples from several populations that are part of the HapMap project. POLDIP3,RRP7A,RRP7B,SERHL,SERHL2 NA10847,NA10863,NA11830,NA18502,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA18972,NA18980,NA19007,NA19132,NA19173 nsv829246 22 41214819 41286207 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440102 S 31 0 1 RRP7A,SERHL,SERHL2 NA18537 dgv773n67 22 41226686 41280235 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829257,nsv829256,nsv829255,nsv829251,nsv829248,nsv829254,nsv829249,nsv829258,nsv829247,nsv829250 M 31 11 0 RRP7A,SERHL,SERHL2 AK16,NA18552,NA18564,NA18582,NA18592,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 dgv103e180 22 41227038 41282629 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993545,esv992397 M 3 1 0 RRP7A,SERHL,SERHL2 HuRef essv20414 22 41230794 41413250 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATP5L2,CYB5R3,POLDIP3,RNU12,RRP7A,RRP7B,SERHL,SERHL2 NA10830 nsv442798 22 41234550 41276824 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RRP7A,SERHL nsv482078 22 41238519 41245752 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558439 S 1 1 0 RRP7A KB1 nsv436074 22 41241942 41298449 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465781 S 2 1 0 RRP7A,SERHL2 NA15510 nsv511642 22 41242666 41301617 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626276 S 1 0 1 RRP7A,RRP7B,SERHL2 1 nsv915179 22 41242666 41326093 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568053 S 6533 1 0 POLDIP3,RRP7A,RRP7B,SERHL2 IS31189 esv2618427 22 41264121 41266370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332184 S 1 0 1 "" NA18507 nsv524028 22 41318061 41357768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699891 S 2026 0 1 CYB5R3,POLDIP3,RNU12 nsv915180 22 41326093 41391538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586133 S 6533 0 1 ATP5L2,CYB5R3,POLDIP3,RNU12 IS37646 dgv4983n71 22 41326093 41440863 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915184,nsv915181,nsv915182,nsv915183 M 6533 0 5 A4GALT,ATP5L2,CYB5R3,POLDIP3,RNU12 IS38403,IS39233,MS10311,MS16153,MS17208 dgv260n21 22 41353924 41357768 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519724,nsv518813 M 2026 0 2 CYB5R3 esv2438931 22 41359964 41361586 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234240 S 1 0 1 CYB5R3 NA18507 nsv915185 22 41362814 41440863 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575422 S 6533 1 0 A4GALT,ATP5L2,CYB5R3 IS33738 esv7450 22 41377142 41377226 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29891 S 1 1 0 "" SJK nsv915186 22 41380483 41472892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543238 S 6533 0 1 A4GALT MS16117 nsv520597 22 41391538 41396475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697511 S 2026 0 1 "" nsv915187 22 41406285 41440863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564352 S 6533 0 1 A4GALT IS30197 nsv915188 22 41414557 41421511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508585 S 6533 1 0 A4GALT SP54650 nsv191539 22 41428599 41428966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210117 M 24 A4GALT nsv915189 22 41438339 41460342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510461 S 6533 0 1 A4GALT SP54956 dgv4984n71 22 41441380 41446208 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915190,nsv915191 M 6533 0 2 A4GALT SP54967,SP55195 dgv4985n71 22 41442762 41451370 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915193,nsv915194,nsv915192 M 6533 0 4 A4GALT SP54672,SP54988,SP55021,SP55318 nsv915195 22 41452664 41547024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520962 S 6533 1 0 ARFGAP3 SP51345 nsv520472 22 41472892 41487268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697441 S 2026 0 1 "" nsv915196 22 41478203 41610003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574029 S 6533 0 1 ARFGAP3,PACSIN2 IS33504 esv2549553 22 41544343 41545313 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253539 S 1 1 0 ARFGAP3 NA18507 nsv508738 22 41565609 41643946 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623852,nssv619881 M 4 2 0 ARFGAP3,PACSIN2 NA10860,NA18994 esv2055252 22 41622099 41622565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834967 S 1 0 1 PACSIN2 NA18507 nsv834212 22 41622571 41677145 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456162,nssv1456163 M 95 1 1 PACSIN2 esv271060 22 41631678 41636444 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516132 S 157 1 0 Samples from several populations that are part of the HapMap project. PACSIN2 NA12873 esv33930 22 41657587 41658581 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97345,essv94854 M 51 0 2 PACSIN2 21879,22231 nsv834213 22 41661440 41820131 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456164 S 95 0 1 PACSIN2,TTLL1 nsv3645 22 41756210 41788742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6987 S 9 1 0 TTLL1 NA12156 esv28713 22 41761366 41766162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14703 S 451 0 1 TTLL1 NA18511 nsv834214 22 41763881 41943878 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456165 S 95 1 0 BIK,MCAT,SCUBE1,TSPO,TTLL1,TTLL12 nsv459889 22 41795473 41848268 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536549 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BIK,TTLL1 HGDP00025 nsv829259 22 41803372 41805485 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437330 S 31 0 1 TTLL1 NA18592 esv1431679 22 41804980 41805044 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859650 S 2 0 1 TTLL1 HuRef esv1508177 22 41805081 41805209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218949 S 2 0 1 TTLL1 HuRef esv33816 22 41839708 42052072 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100846,essv95147,essv101345,essv97815,essv95361,essv98942,essv96721,essv93447,essv95030,essv97693,essv94238 M 51 11 0 BIK,MCAT,SCUBE1,TSPO,TTLL12 21656,21721,21805,21837,21872,21938,22011,22128,22231,22278,22394 dgv4986n71 22 41864738 41902124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915197,nsv915198 M 6533 0 7 MCAT,TSPO,TTLL12 IS32841,IS33601,IS38176,IS38403,IS39417,IS40799,MS10769 dgv4987n71 22 41864738 41924777 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915200,nsv915199,nsv915216 M 6533 0 4 MCAT,TSPO,TTLL12 IS32322,IS37646,MS10311,SP54956 nsv915201 22 41864738 41950563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538774 S 6533 0 1 MCAT,SCUBE1,TSPO,TTLL12 MS13770 dgv4988n71 22 41864738 41991024 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915202,nsv915205,nsv915203,nsv915204 M 6533 0 5 MCAT,SCUBE1,TSPO,TTLL12 IS33504,MS10123,MS16153,MS17208,MS18276 nsv915215 22 41869595 41889656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511145 S 6533 0 1 TSPO SP54988 esv1010503 22 41873195 41873807 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563617 S 3 0 1 "" HuRef nsv459890 22 41878099 41909266 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536550 S 1557 1 0 TSPO,TTLL12 NINDS_101 esv1998181 22 41879077 41879786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996597 S 1 0 1 TSPO NA18507 esv3468 22 41879232 41879650 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25909 S 1 0 1 Single Asian sample YH TSPO YH esv8520 22 41879292 41879601 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30961 S 1 0 1 TSPO SJK nsv520927 22 41880093 42033935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691876,nssv677817,nssv682706,nssv683364,nssv703585,nssv703654 M 2026 0 6 SCUBE1,TSPO,TTLL12 nsv915217 22 41880996 41902124 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564468 S 6533 1 0 TSPO,TTLL12 IS30218 dgv4989n71 22 41888870 41924082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915218,nsv915219 M 6533 0 2 TSPO,TTLL12 IS33684,IS35484 dgv4990n71 22 41890906 41950563 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915221,nsv915220 M 6533 0 2 SCUBE1,TTLL12 IS33178,IS39233 dgv4991n71 22 41891747 41972097 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915222,nsv915225,nsv915224,nsv915223 M 6533 0 4 SCUBE1,TTLL12 IS33248,IS34235,MS11726,MS13095 nsv471201 22 41908993 41975077 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545570 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCUBE1,TTLL12 HGDP00290 nsv834216 22 41910854 42109731 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456166 S 95 0 1 SCUBE1,TTLL12 nsv829260 22 41914858 41923346 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422986 S 31 1 0 "" NA18969 nsv829261 22 41917617 41923355 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435631 S 31 0 1 "" NA18942 esv29738 22 41924682 41925707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12645 S 451 0 1 "" NA18505 nsv915226 22 41928325 41953916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580987,nssv1530397 M 6533 0 2 SCUBE1 IS35484,MS10311 dgv4992n71 22 41928325 41975077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915228,nsv915229,nsv915227 M 6533 0 3 SCUBE1 IS30197,IS33455,MS11306 nsv191393 22 41929311 41929311 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209971 M 24 SCUBE1 esv5307 22 41931513 41932011 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27748 S 1 0 1 Single Asian sample YH SCUBE1 YH dgv4993n71 22 41935598 41965151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915230,nsv915231 M 6533 0 2 SCUBE1 IS33684,IS40230 esv269389 22 41939704 41940056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499391,essv2511727,essv2493619,essv2494796 M 157 4 0 Samples from several populations that are part of the HapMap project. SCUBE1 NA11994,NA18499,NA18517,NA18519 dgv4994n71 22 41945185 41977360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915242,nsv915232 M 6533 0 2 SCUBE1 IS35007,MS10311 esv268558 22 41957914 41957999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513691 S 157 1 0 Samples from several populations that are part of the HapMap project. SCUBE1 NA07347 esv270288 22 41984340 41986293 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515955 S 157 1 0 Samples from several populations that are part of the HapMap project. SCUBE1 NA12873 nsv459891 22 42000330 42064210 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536551 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCUBE1 HGDP00638 nsv471202 22 42000330 42070362 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545571 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCUBE1 HGDP00638 esv2330845 22 42006165 42006622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624393 S 1 0 1 SCUBE1 NA18507 esv2628998 22 42006272 42008028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321661 S 1 0 1 SCUBE1 NA18507 esv29705 22 42006523 42007553 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11892 S 451 4 0 SCUBE1 NA06985,NA12004,NA12044,NA15510 nsv821331 22 42006523 42007553 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420168 S 1 0 1 SCUBE1 NA10851 esv2215307 22 42006620 42007041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564289 S 1 0 1 SCUBE1 NA18507 esv3472 22 42006634 42007561 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25913 S 1 0 1 Single Asian sample YH SCUBE1 YH esv1076173 22 42006887 42007008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866794 S 2 0 1 SCUBE1 HuRef esv1613247 22 42007145 42007266 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924774 S 2 0 1 SCUBE1 HuRef esv1000890 22 42007164 42007284 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585352 S 3 0 1 SCUBE1 HuRef dgv4995n71 22 42007399 42042480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915243,nsv915244 M 6533 0 3 SCUBE1 IS36640,MS10311,MS18742 nsv829262 22 42091284 42097468 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437341 S 31 0 1 "" NA18592 nsv525270 22 42099815 42109811 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701370 S 2026 1 0 "" nsv520907 22 42106024 42109811 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677323,nssv681336 M 2026 2 0 "" dgv4996n71 22 42106024 42139102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915247,nsv915245 M 6533 0 4 MPPED1 IS35007,IS38403,IS40799,MS13770 nsv508739 22 42106193 42179843 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621153 S 4 1 0 MPPED1 NA15510 nsv471203 22 42109464 42115112 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545572 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00638 nsv524935 22 42109811 42110971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700949 S 2026 0 1 "" nsv915246 22 42109811 42304562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531070 S 6533 0 1 EFCAB6,MPPED1 MS10311 nsv915248 22 42111071 42175652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532558 S 6533 0 1 MPPED1 MS10769 dgv4997n71 22 42113315 42167159 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915250,nsv915253,nsv915254,nsv915252,nsv915249 M 6533 0 5 MPPED1 IS39233,MS17208,MS18276,SP54956,SP54988 nsv915251 22 42119161 42156211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593470 S 6533 0 1 MPPED1 IS39417 nsv428392 22 42147751 42194033 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454014,nssv454015 M 62 1 1 MPPED1 HGDP00449,HGDP00460 esv1484276 22 42158627 42158627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294717 S 2 1 0 MPPED1 HuRef nsv459892 22 42189421 42317474 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536552 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFCAB6,MPPED1 HGDP00913 nsv471205 22 42193241 42446194 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545573 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFCAB6,MPPED1 HGDP00913 esv2393908 22 42195861 42196340 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813798 S 1 0 1 MPPED1 NA18507 esv2470453 22 42201132 42201945 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350605 S 1 1 0 MPPED1 NA18507 esv1364206 22 42254196 42254248 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029418 S 2 0 1 "" HuRef nsv3646 22 42274332 42319805 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6988 S 9 0 1 EFCAB6 NA12156 esv1623154 22 42316493 42316543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877165 S 2 0 1 EFCAB6 HuRef nsv191450 22 42316494 42316543 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210028 M 24 EFCAB6 nsv459893 22 42343546 42445675 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536553 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFCAB6 HGDP00913 esv2539629 22 42457023 42457760 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193270 S 1 1 0 EFCAB6 NA18507 nsv834217 22 42472505 42647395 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456167,nssv1456168 M 95 2 0 EFCAB6,PNPLA5,SULT4A1 nsv915255 22 42515246 42546770 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500981 S 6533 1 0 EFCAB6 SP51014 nsv834218 22 42528125 42709228 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456169 S 95 0 1 EFCAB6,PNPLA3,PNPLA5,SAMM50,SULT4A1 dgv4998n71 22 42535078 42627383 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915257,nsv915256 M 6533 0 2 EFCAB6,PNPLA5,SULT4A1 MS10311,MS17208 nsv915258 22 42548631 42567338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574031 S 6533 0 1 SULT4A1 IS33504 dgv4999n71 22 42548631 42576342 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915259,nsv915261 M 6533 0 4 SULT4A1 IS32322,IS33797,IS34304,MS18276 nsv915260 22 42548631 42582522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543874 S 6533 0 1 SULT4A1 MS16153 nsv528729 22 42550905 42551049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705385 S 2026 0 1 "" nsv829263 22 42551501 42607848 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422997 S 31 1 0 PNPLA5,SULT4A1 NA18969 nsv3647 22 42554133 42598951 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7752 S 9 0 1 SULT4A1 NA12156 nsv829265 22 42555286 42656212 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432632 S 31 0 1 PNPLA3,PNPLA5,SULT4A1 AK20 esv2510122 22 42561280 42562969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387780 S 1 0 1 SULT4A1 NA18507 nsv512659 22 42561391 42563052 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625278 S 1 0 1 SULT4A1 1 nsv191452 22 42561492 42561827 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210030 M 24 SULT4A1 esv28783 22 42561501 42562326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10965 S 451 0 11 SULT4A1 NA12044,NA12489,NA18502,NA18508,NA18523,NA18909,NA18916,NA19099,NA19129,NA19147,NA19240 esv1037241 22 42561568 42561652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190943 S 2 0 1 SULT4A1 HuRef esv1523199 22 42561749 42561861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272738 S 2 0 1 SULT4A1 HuRef esv1538910 22 42561889 42562281 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078485 S 2 0 1 SULT4A1 HuRef nsv834219 22 42581209 42740090 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456170 S 95 1 0 PARVB,PNPLA3,PNPLA5,SAMM50,SULT4A1 dgv5000n71 22 42605447 42622564 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915263,nsv915262 M 6533 0 2 PNPLA5 MS16153,MS18276 dgv5001n71 22 42611727 42633670 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915264,nsv915265 M 6533 0 2 PNPLA5 IS32322,IS33504 nsv459894 22 42627383 42633670 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536554 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00027 nsv528458 22 42654303 42673449 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705060 S 2026 1 0 PNPLA3 nsv513592 22 42654521 42655941 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626844 S 1 1 0 PNPLA3 1 esv269894 22 42655888 42657062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510991,essv2503246,essv2506775,essv2511198,essv2504455,essv2508029,essv2512427,essv2499469,essv2508054,essv2501679,essv2512238,essv2495335,essv2495853,essv2508529,essv2507744,essv2508889,essv2500325,essv2502777,essv2496825,essv2497170,essv2497784,essv2499972,essv2508310,essv2499876,essv2507599,essv2512756,essv2508632,essv2510086,essv2512888,essv2500979,essv2495489,essv2512810,essv2497638,essv2499723,essv2512118,essv2497981,essv2503579,essv2495771,essv2503968,essv2511559,essv2504365,essv2513049 M 157 42 0 Samples from several populations that are part of the HapMap project. PNPLA3 NA06986,NA07000,NA07037,NA07346,NA07347,NA10847,NA11831,NA11881,NA11918,NA11931,NA11993,NA12003,NA12043,NA12044,NA12045,NA12144,NA12155,NA12287,NA12489,NA12717,NA12751,NA12878,NA12891,NA12892,NA18498,NA18552,NA18555,NA18558,NA18561,NA18562,NA18576,NA18577,NA18592,NA18593,NA18609,NA18856,NA18916,NA18980,NA19147,NA19225,NA19238,NA19240 esv274297 22 42655895 42657043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578909,essv2579451 M 7 2 0 Samples from several populations that are part of the HapMap project. PNPLA3 NA19239,NA19240 nsv459895 22 42676109 42825799 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536555 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARVB,SAMM50 HGDP00913 nsv471206 22 42685444 42825799 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545574 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARVB,SAMM50 HGDP00913 nsv510517 22 42697387 42703387 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624260 S 4 0 1 SAMM50 NA18994 dgv1408e1 22 42701772 42722730 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12039,esv1314 M 271 0 0 SAMM50 NA19116 esv2618097 22 42707027 42707719 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204646 S 1 1 0 SAMM50 NA18507 nsv513593 22 42707293 42707893 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626845 S 1 1 0 SAMM50 1 esv2647300 22 42711003 42713654 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299428 S 1 0 1 SAMM50 NA18507 nsv9914 22 42712171 42716272 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28170 S 31 0 1 Samples from several populations that are part of the HapMap project. SAMM50 NA18860 esv25385 22 42712195 42713203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17041 S 451 0 1 SAMM50 NA19240 esv991955 22 42761485 42761485 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579544 S 3 1 0 PARVB HuRef nsv915266 22 42817619 42832968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589130 S 6533 0 1 PARVB IS38293 nsv510809 22 42839335 42884304 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620173 S 4 0 1 PARVB NA15510 esv2005538 22 42839727 42841544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608054 S 1 0 1 PARVB NA18507 nsv820857 22 42839757 42843457 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420169 S 1 0 1 PARVB NA10851 esv22732 22 42839887 42843457 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18079 S 451 28 0 PARVB NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18511,NA18523,NA18858,NA18916,NA19129,NA19147,NA19240 esv1420958 22 42839915 42839915 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334595 S 2 1 0 PARVB HuRef esv2356466 22 42840071 42840428 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4781180 S 1 0 1 PARVB NA18507 esv1973166 22 42841998 42843359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907554 S 1 0 1 PARVB NA18507 nsv915267 22 42880277 42955204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547118 S 6533 0 1 PARVB,PARVG MS17208 nsv508740 22 42884304 42936252 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619882 S 4 1 0 PARVB,PARVG NA10860 nsv915268 22 42888396 42920341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531072 S 6533 0 1 PARVB,PARVG MS10311 esv27983 22 42896276 42896857 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13821 S 451 0 2 PARVB NA18508,NA19240 nsv510518 22 42909117 42915117 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624261 S 4 0 1 PARVG NA18994 nsv9915 22 42930842 42970421 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28767 S 31 0 1 Samples from several populations that are part of the HapMap project. PARVG NA19221 dgv261n21 22 42942383 42949197 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524798,nsv521628 M 2026 0 2 "" nsv459897 22 42942383 42959401 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536557 S 1557 0 1 "" 1782681076_A esv1304110 22 42962610 42962610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833537 S 2 1 0 "" HuRef esv1473839 22 42962660 42962660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706387 S 2 1 0 "" HuRef nsv438347 22 42970034 42984219 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470967 S 269 0 1 Samples from several populations that are part of the HapMap project. KIAA1644 NA18572 dgv1409e1 22 42975154 43032634 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17535,essv11642,essv24933,essv10809,esv384,essv24381 M 271 0 0 KIAA1644 NA06994,NA12707,NA12762,NA18523,NA19154 nsv519623 22 43003352 43007420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696956 S 2026 0 1 KIAA1644 dgv5002n71 22 43008980 43125661 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915272,nsv915269,nsv915270 M 6533 0 4 KIAA1644 IS37646,MS10311,MS17208,MS18276 essv18180 22 43013630 43032634 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIAA1644 NA12057 nsv829266 22 43022587 43057844 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423008 S 31 1 0 KIAA1644 NA18969 esv2554291 22 43027277 43027338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282611 S 1 0 1 KIAA1644 NA18507 esv25690 22 43029828 43030873 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10704 S 451 1 0 KIAA1644 NA11993 nsv829267 22 43108030 43149839 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423019 S 31 1 0 "" NA18969 nsv518737 22 43117070 43119070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696186 S 2026 0 1 "" nsv915273 22 43128674 43165216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580260 S 6533 1 0 "" IS35245 nsv915274 22 43139648 43156806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537186 S 6533 0 1 "" MS13095 dgv262n21 22 43150282 43153565 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521348,nsv517953 M 2026 0 2 "" nsv526804 22 43151304 43153565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703158 S 2026 0 1 "" nsv915275 22 43159189 43183792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547120 S 6533 0 1 "" MS17208 nsv3648 22 43191979 43236711 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7753 S 9 0 1 "" NA12156 nsv915276 22 43202109 43220799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572723 S 6533 0 1 "" IS33162 nsv459899 22 43206741 43217334 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536558 S 1557 0 1 "" NINDS_50 nsv3649 22 43237576 43263206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7754 S 9 1 0 "" NA12156 nsv915277 22 43306616 43329931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531074 S 6533 0 1 "" MS10311 nsv522692 22 43309365 43310256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706102 S 2026 0 1 "" nsv515625 22 43309759 43310256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660337,nssv690406,nssv664146,nssv671780,nssv679436 M 2026 0 5 "" nsv471207 22 43312547 43341319 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545575 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00315 nsv523770 22 43325185 43326761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699592 S 2026 0 1 "" nsv915278 22 43359627 43405168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543876 S 6533 0 1 LINC00229 MS16153 nsv915279 22 43375136 43392799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597383 S 6533 0 1 LINC00229 IS40799 nsv915280 22 43375136 43423345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531075 S 6533 0 1 LINC00229 MS10311 esv9555 22 43381442 43381520 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31996 S 1 1 0 LINC00229 SJK nsv915281 22 43382542 43405168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574033 S 6533 0 1 LINC00229 IS33504 nsv915282 22 43390761 43482150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586136 S 6533 0 1 LINC00229,PRR5,PRR5-ARHGAP8 IS37646 esv7263 22 43393871 43394267 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29704 S 1 0 1 LINC00229 SJK dgv1410e1 22 43405468 43589193 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv415,essv16228,essv8450,essv15342,essv8225,essv11793 M 271 0 0 ARHGAP8,PRR5,PRR5-ARHGAP8 NA18504,NA18516,NA18862,NA19116,NA19161 nsv829268 22 43415162 43560481 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423030 S 31 1 0 ARHGAP8,PRR5,PRR5-ARHGAP8 NA18969 nsv3650 22 43424797 43458418 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7756 S 9 1 0 PRR5 NA12156 esv7415 22 43427523 43427628 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29856 S 1 0 1 "" SJK esv5364 22 43427631 43427954 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27805 S 1 0 1 Single Asian sample YH "" YH nsv915283 22 43437912 43487691 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510464 S 6533 0 1 PRR5,PRR5-ARHGAP8 SP54956 nsv915284 22 43468056 43509092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572724 S 6533 0 1 PRR5,PRR5-ARHGAP8 IS33162 nsv915285 22 43468056 43529323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574034 S 6533 0 1 ARHGAP8,PRR5,PRR5-ARHGAP8 IS33504 nsv817999 22 43472707 43512004 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415724 S 112 1 0 PRR5,PRR5-ARHGAP8 NA12248 nsv9916 22 43476178 43478100 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26061,nssv27380,nssv23299,nssv23037,nssv26434,nssv27421,nssv26340 M 31 7 0 Samples from several populations that are part of the HapMap project. PRR5,PRR5-ARHGAP8 NA11830,NA12155,NA12740,NA12872,NA18504,NA18563,NA18572 nsv9917 22 43481050 43482538 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27430 S 31 0 1 Samples from several populations that are part of the HapMap project. PRR5,PRR5-ARHGAP8 NA18504 nsv915286 22 43492586 43529323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547121 S 6533 0 1 ARHGAP8,PRR5,PRR5-ARHGAP8 MS17208 essv12753 22 43497829 43589193 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARHGAP8,PRR5,PRR5-ARHGAP8 NA18914 esv1957313 22 43507337 43507655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669509 S 1 0 1 PRR5,PRR5-ARHGAP8 NA18507 nsv9918 22 43513496 43517620 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25405,nssv28172,nssv27439,nssv26786,nssv27960,nssv27875,nssv28768,nssv26660 M 31 0 8 Samples from several populations that are part of the HapMap project. PRR5-ARHGAP8 NA18504,NA18537,NA18860,NA18972,NA18975,NA19132,NA19144,NA19221 esv22273 22 43513946 43517622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17848,esv19395,esv17218,esv12992 M 451 0 11 PRR5-ARHGAP8 NA07045,NA12004,NA15510,NA18505,NA18523,NA18858,NA18861,NA18909,NA19099,NA19190,NA19225 dgv774n67 22 43513960 43515675 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829270,nsv829269,nsv829271,nsv829272 M 31 0 10 PRR5-ARHGAP8 AK16,AK4,AK6,AK8,NA18537,NA18566,NA18582,NA18592,NA18947,NA18972 esv33671 22 43514633 43526118 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101529,essv100566 M 51 2 0 PRR5-ARHGAP8 21603,22298 nsv915287 22 43537619 43620296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538776 S 6533 0 1 ARHGAP8,PRR5-ARHGAP8 MS13770 nsv459901 22 43554635 43637121 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536559 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGAP8,PRR5-ARHGAP8 HGDP00629 nsv471208 22 43554635 43637121 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545577 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGAP8,PRR5-ARHGAP8 HGDP00629 esv2259848 22 43587788 43588178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997350 S 1 0 1 ARHGAP8,PRR5-ARHGAP8 NA18507 esv1192293 22 43587968 43588039 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367430 S 2 0 1 ARHGAP8,PRR5-ARHGAP8 HuRef nsv459902 22 43597851 43637121 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536560 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGAP8,PRR5-ARHGAP8 HGDP00160 nsv915288 22 43599658 43625839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588152 S 6533 0 1 ARHGAP8,PRR5-ARHGAP8 IS38168 esv2512679 22 43630433 43632320 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318625 S 1 0 1 ARHGAP8,PRR5-ARHGAP8 NA18507 esv991191 22 43638403 43644446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565207 S 3 0 1 "" HuRef nsv9919 22 43655729 43946616 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27882,nssv25430,nssv27966,nssv24743,nssv26080,nssv26142 M 31 1 5 Samples from several populations that are part of the HapMap project. LOC100506714,NUP50,PHF21B NA18563,NA18942,NA18972,NA18975,NA19007,NA19132 nsv915289 22 43658193 43697389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589056 S 6533 0 1 PHF21B IS38292 nsv915290 22 43658193 43757964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538777 S 6533 0 1 PHF21B MS13770 esv1949381 22 43658713 43659167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989583 S 1 0 1 PHF21B NA18507 esv1006365 22 43664568 43664617 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583577 S 3 0 1 PHF21B HuRef esv1527783 22 43664609 43664659 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742996 S 2 0 1 PHF21B HuRef esv4033 22 43678987 43679580 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26474 S 1 0 1 Single Asian sample YH PHF21B YH esv7819 22 43679004 43679423 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30260 S 1 0 1 PHF21B SJK nsv915291 22 43683800 43747195 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531076 S 6533 0 1 PHF21B MS10311 dgv5003n71 22 43699295 43757964 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915292,nsv915293 M 6533 0 3 PHF21B IS37467,MS13011,MS17208 nsv191258 22 43700571 43700571 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209836 M 24 PHF21B nsv471209 22 43706341 43748133 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545578 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PHF21B HGDP00546 nsv191598 22 43719435 43719435 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210176 M 24 PHF21B dgv775n67 22 43755124 43808638 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829273,nsv829274 M 31 2 0 PHF21B NA18968,NA18969 nsv513594 22 43758187 43759137 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626846 S 1 1 0 PHF21B 1 esv2499028 22 43758444 43759170 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349018 S 1 1 0 PHF21B NA18507 esv2457019 22 43758628 43758699 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268851 S 1 0 1 PHF21B NA18507 esv1370402 22 43812686 43812686 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174986 S 2 1 0 "" HuRef esv2532024 22 43854761 43855115 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314981 S 1 1 0 "" NA18507 esv2370854 22 43866885 43867292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847169 S 1 0 1 "" NA18507 esv997767 22 43867026 43867088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583851 S 3 0 1 "" HuRef esv1558188 22 43867097 43867160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664800 S 2 0 1 "" HuRef nsv834220 22 43893270 44045058 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456171 S 95 0 1 KIAA0930,LOC100506714,MIR1249,NUP50 nsv829276 22 43933430 43935337 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435632,nssv1438567,nssv1431786,nssv1429539 M 31 0 4 LOC100506714 AK12,NA18942,NA18947,NA18951 nsv829277 22 43933430 43937835 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428006 S 31 0 1 LOC100506714 AK8 esv27285 22 43933465 43935464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18317 S 451 0 9 LOC100506714 NA18505,NA18508,NA18517,NA18858,NA18861,NA18916,NA19108,NA19114,NA19147 esv6608 22 43941251 43941311 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29049 S 1 1 0 NUP50 SJK dgv1411e1 22 43952888 44303830 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1307,essv1515,esv654 M 271 0 0 FAM118A,FBLN1,KIAA0930,MIR1249,NUP50,RIBC2,SMC1B,UPK3A NA18980 nsv9920 22 43969952 43972353 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28067 S 31 1 0 Samples from several populations that are part of the HapMap project. KIAA0930 NA18502 nsv829278 22 43970198 44082395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432633 S 31 0 1 KIAA0930,MIR1249,UPK3A AK20 esv1008540 22 43977172 43980938 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564080 S 3 0 1 KIAA0930 HuRef nsv829279 22 43987033 44039090 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423052 S 31 1 0 KIAA0930 NA18969 esv2925 22 44003274 44003682 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25366 S 1 0 1 Single Asian sample YH KIAA0930 YH esv22242 22 44003311 44003796 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12035 S 451 1 0 KIAA0930 NA11993 esv5567 22 44003422 44003725 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28008 S 1 0 1 KIAA0930 SJK esv1262903 22 44003741 44003895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830765 S 2 0 1 KIAA0930 HuRef nsv915294 22 44006631 44051238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511642 S 6533 0 1 KIAA0930 SP55021 nsv9921 22 44022421 44288676 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26228,nssv25783,nssv26797,nssv26673,nssv27447 M 31 1 4 Samples from several populations that are part of the HapMap project. FAM118A,FBLN1,RIBC2,SMC1B,UPK3A NA18504,NA18537,NA18853,NA18980,NA19144 nsv818000 22 44027510 44041512 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415725 S 112 1 0 "" NA12248 esv34218 22 44029489 44290254 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986562,essv6978213,essv6978214,essv6990210,essv6986563 M 771 1 0 FAM118A,FBLN1,RIBC2,SMC1B,UPK3A NA18980 esv22798 22 44032095 44035259 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15866,esv18898 M 451 0 5 "" NA18502,NA18508,NA18858,NA19114,NA19240 nsv508741 22 44033054 44113341 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619883 S 4 1 0 FAM118A,UPK3A NA10860 nsv515559 22 44034508 44035828 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659301,nssv666212,nssv666053,nssv660384,nssv686958,nssv663899,nssv676059,nssv682542,nssv667254 M 2026 0 9 "" esv1073799 22 44056584 44056584 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804413 S 2 1 0 "" HuRef nsv471210 22 44090518 44190026 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545579 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM118A,RIBC2,SMC1B HGDP00315 esv1005664 22 44101501 44104133 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563968 S 3 1 0 FAM118A HuRef esv2052102 22 44102403 44103074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583705 S 1 0 1 FAM118A NA18507 esv2645741 22 44102423 44104012 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165942 S 1 0 1 FAM118A NA18507 nsv514972 22 44102556 44102628 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627210 S 1414 0 0 FAM118A esv1530597 22 44102623 44102623 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976519 S 2 1 0 FAM118A HuRef esv1390438 22 44102857 44102857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758183 S 2 1 0 FAM118A HuRef esv1087404 22 44102910 44102910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210174 S 2 1 0 FAM118A HuRef nsv515690 22 44137422 44190026 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672354,nssv703600,nssv669097,nssv678276,nssv678478,nssv665131,nssv669157,nssv667577,nssv685734,nssv682707,nssv678991,nssv690015,nssv692785,nssv664433,nssv656922,nssv669406,nssv654675,nssv675704,nssv661174 M 2026 13 6 RIBC2,SMC1B nsv834221 22 44158453 44352855 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456172 S 95 0 1 FBLN1,RIBC2,SMC1B nsv3651 22 44178252 44210096 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5932 S 9 1 0 RIBC2,SMC1B NA19129 nsv525550 22 44200379 44258096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701688 S 2026 0 1 RIBC2 esv2171822 22 44253489 44254095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666548 S 1 0 1 "" NA18507 esv988002 22 44253692 44254021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576391 S 3 0 1 "" HuRef esv1650809 22 44253698 44254028 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899939 S 2 0 1 "" HuRef nsv915295 22 44272786 44329467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543877 S 6533 0 1 FBLN1 MS16153 nsv915296 22 44280783 44314785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531077 S 6533 0 1 FBLN1 MS10311 nsv829280 22 44305209 44305794 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423805 S 31 0 1 FBLN1 NA18547 nsv527304 22 44306811 44306988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703723 S 2026 0 1 FBLN1 nsv191287 22 44342930 44343172 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209865 M 24 FBLN1 esv2595833 22 44342981 44343617 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284073 S 1 1 0 FBLN1 NA18507 esv2814 22 44343120 44343490 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25255 S 1 0 1 Single Asian sample YH FBLN1 YH nsv191416 22 44343162 44343380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209994 M 24 FBLN1 nsv915297 22 44346190 44367235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600551 S 6533 0 1 FBLN1 IS41894 nsv471211 22 44350544 44368703 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545580 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBLN1 HGDP00606 esv2368023 22 44361668 44362105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590785 S 1 0 1 FBLN1 NA18507 esv4701 22 44361775 44362239 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27142 S 1 0 1 Single Asian sample YH FBLN1 YH esv1005230 22 44361839 44362949 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586122 S 3 1 0 FBLN1 HuRef nsv522106 22 44362565 44374774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694878 S 2026 0 1 FBLN1 nsv527062 22 44396758 44402303 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703440 S 2026 0 1 "" nsv915298 22 44410026 44441130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574035 S 6533 0 1 "" IS33504 nsv915299 22 44426060 44564537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528271 S 6533 0 1 ATXN10,MIR4762 SP81182 dgv73n68 22 44467080 44662653 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834223,nsv834222 M 95 2 0 ATXN10,MIR4762 nsv915300 22 44495866 44586619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582560 S 6533 0 1 ATXN10,MIR4762 IS35993 nsv527209 22 44581589 44599955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703609 S 2026 0 1 ATXN10 dgv5004n71 22 44617012 44931479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915307,nsv915302,nsv915310,nsv915301,nsv915303,nsv915304,nsv915311 M 6533 0 8 ATXN10,C22orf26,LOC100271722,LOC150381,LOC730668,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PPARA,WNT7B IS33178,IS37646,IS40297,MS10123,MS10311,MS13095,MS16153,MS18276 nsv525600 22 44630277 44636019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701743 S 2026 0 1 "" dgv263n21 22 44633668 44636777 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526737,nsv518308 M 2026 0 2 "" dgv5005n71 22 44636019 44878098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915309,nsv915308,nsv915306,nsv915305 M 6533 0 4 C22orf26,LOC100271722,LOC150381,LOC730668,MIR3619,MIRLET7BHG,WNT7B IS32322,IS33248,IS33684,IS34235 nsv829281 22 44636029 45510419 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421422 S 31 1 0 C22orf26,C22orf40,CELSR1,CERK,CN5H6.4,GRAMD4,GTSE1,LOC100271722,LOC150381,LOC730668,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PKDREJ,PPARA,TRMU,TTC38,WNT7B NA18968 nsv829282 22 44643541 44784035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432634 S 31 0 1 LOC730668,WNT7B AK20 dgv5006n71 22 44690948 44931479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915316,nsv915312,nsv915315,nsv915313,nsv915319,nsv915318,nsv915317,nsv915314 M 6533 0 14 C22orf26,LOC100271722,LOC150381,LOC730668,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PPARA,WNT7B IS30369,IS32306,IS33601,IS37172,IS38176,IS39233,IS39258,IS40502,IS41410,IS41634,MS10698,MS16315,MS17522,MS17825 nsv829283 22 44724710 44823339 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423074 S 31 1 0 LOC100271722,LOC730668,WNT7B NA18969 nsv915320 22 44726586 44827483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510465 S 6533 0 1 C22orf26,LOC100271722,LOC730668,WNT7B SP54956 esv2043867 22 44727485 44727988 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932602 S 1 0 1 WNT7B NA18507 esv5358 22 44727625 44727859 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27799 S 1 0 1 Single Asian sample YH WNT7B YH nsv191273 22 44727680 44727799 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209851 M 24 WNT7B esv996787 22 44730181 44742050 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565138 S 3 0 1 WNT7B HuRef esv2008251 22 44741818 44742215 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796576 S 1 0 1 WNT7B NA18507 dgv5007n71 22 44792811 44859266 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915324,nsv915321,nsv915323 M 6533 0 3 C22orf26,LOC100271722,LOC150381 SP51109,SP54725,SP55019 dgv776n67 22 44796538 44870830 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829284,nsv829288,nsv829287 M 31 3 0 C22orf26,LOC100271722,LOC150381,MIR3619,MIRLET7BHG AK6,NA18542,NA18949 dgv5008n71 22 44799129 44931479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915325,nsv915322 M 6533 0 2 C22orf26,LOC100271722,LOC150381,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PPARA IS40396,SP54988 nsv829285 22 44799233 44889518 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428800 S 31 1 0 C22orf26,LOC100271722,LOC150381,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG AK10 nsv471212 22 44801602 44912710 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545583,nssv545584,nssv545582,nssv545581 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C22orf26,LOC100271722,LOC150381,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG HGDP00298,HGDP00556,HGDP00954,HGDP00978 dgv5009n71 22 44822499 44914877 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915328,nsv915326,nsv915333,nsv915334,nsv915332,nsv915329,nsv915335 M 6533 0 12 C22orf26,LOC150381,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG IS32888,IS32918,IS33239,IS33514,IS33797,IS34304,IS35484,IS37985,IS40799,MS10769,MS15835,SP54782 nsv829289 22 44827139 44860363 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435633 S 31 0 1 C22orf26,LOC150381 NA18942 dgv777n67 22 44827722 44860666 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829291,nsv829290 M 31 2 0 C22orf26,LOC150381,MIRLET7BHG NA18951,NA18969 dgv5010n71 22 44832872 44894380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915331,nsv915327,nsv915330 M 6533 0 5 LOC150381,MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG IS32737,IS33630,IS39417,MS11054,MS11237 esv271363 22 44837702 44840818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516314 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv915336 22 44842095 44947835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600552 S 6533 0 1 MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PPARA IS41894 nsv471213 22 44854128 44894379 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545585 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG HGDP00566 nsv459904 22 44854129 44878098 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536561 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR3619,MIRLET7BHG HGDP01351 nsv915337 22 44854129 44894380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531301 S 6533 0 1 MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG MS10386 dgv5011n71 22 44854129 44911445 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915342,nsv915339,nsv915338 M 6533 0 5 MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG IS30197,IS31045,IS33504,IS38388,SP50159 nsv516279 22 44854129 44919891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670073,nssv672532,nssv667293,nssv681337,nssv678601,nssv674781,nssv689650,nssv682238,nssv683171,nssv691458,nssv654703 M 2026 0 11 MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG nsv915340 22 44860649 44931479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597695 S 6533 0 1 MIR3619,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PPARA IS41243 dgv5012n71 22 44865880 44931479 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915343,nsv915341,nsv915345 M 6533 0 3 MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PPARA IS32322,MS13770,MS17208 esv25384 22 44869796 44870721 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18026 S 451 3 0 MIRLET7BHG NA12004,NA12239,NA12489 esv1346561 22 44869928 44869928 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972703 S 2 1 0 MIRLET7BHG HuRef esv1011338 22 44870168 44870286 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579215 S 3 0 1 MIRLET7BHG HuRef nsv915344 22 44872703 44896746 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510466 S 6533 0 1 MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG SP54956 nsv459905 22 44872703 44919891 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536562 S 1557 0 1 MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG 1780862014_A esv271386 22 44879908 44880155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493224,essv2507054,essv2496935 M 157 3 0 Samples from several populations that are part of the HapMap project. MIRLET7BHG NA18504,NA18870,NA19190 nsv834224 22 44886210 45036311 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456175,nssv1456176 M 95 0 2 C22orf40,MIR4763,MIRLET7A3,MIRLET7B,MIRLET7BHG,PKDREJ,PPARA esv26560 22 44913679 44916161 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17580 S 451 2 0 "" NA15510,NA19240 nsv829292 22 44915926 44916497 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440104 S 31 0 1 "" NA18537 nsv915346 22 44935825 44961405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507211 S 6533 0 1 PPARA SP54490 nsv191496 22 44952044 44960456 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210074 M 24 PPARA dgv5013n71 22 45011253 45306930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915347,nsv915353,nsv915352,nsv915348,nsv915355 M 6533 0 5 C22orf40,CELSR1,CN5H6.4,GTSE1,PKDREJ,PPARA,TRMU,TTC38 IS33504,IS37646,MS10311,MS16153,MS17208 nsv819654 22 45012232 45012779 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419000 S 2 1 0 PPARA AK1 nsv829293 22 45015615 45516200 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423097 S 31 1 0 C22orf40,CELSR1,CERK,CN5H6.4,GRAMD4,GTSE1,PKDREJ,PPARA,TRMU,TTC38 NA18969 nsv915349 22 45020262 45049058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510467 S 6533 0 1 C22orf40,PKDREJ,TTC38 SP54956 nsv915350 22 45020262 45088545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580989 S 6533 0 1 C22orf40,CN5H6.4,GTSE1,PKDREJ,TTC38 IS35484 dgv5014n71 22 45020262 45193335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915354,nsv915356,nsv915351 M 6533 0 4 C22orf40,CELSR1,CN5H6.4,GTSE1,PKDREJ,TRMU,TTC38 IS32322,IS33684,IS39233,MS18276 nsv820143 22 45032853 45033196 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418771 S 2 0 1 PKDREJ AK1 dgv1412e1 22 45033607 45076640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11870,essv9434,essv6665,essv11989,essv14155,essv22852,essv10243,essv647,essv11105,essv577,essv4552,essv2452,essv24901,essv1148,essv1388,essv12478,essv16548,essv10076,essv12553,essv24369,essv23501,essv13185,essv8223,essv6332,essv9872,essv14591,essv8179,essv23261,essv14517,essv5016,essv22433,essv7614,essv24063,essv5551,essv16153,essv11040,essv10385,essv10528,essv4495,essv12240,essv14347,essv15845,essv21215,essv4380,essv1924,essv6249,essv3181,essv5182,essv24845,esv339,essv2858,essv13938,essv8826,essv10663,essv16313,essv23038,essv17321,essv11418,essv17064,essv15213,essv14081,essv15714,essv9721,essv23179,essv6029,essv12743,essv2355,essv22755,essv6964,essv1446,essv22391,essv4264,essv3718,essv23131,essv2064,essv1487,essv17264,essv8444,essv11747,essv23842,essv10266 M 271 0 0 CN5H6.4,GTSE1,PKDREJ,TTC38 NA06994,NA07000,NA07019,NA07022,NA07029,NA07034,NA10859,NA11830,NA12156,NA12707,NA12760,NA12761,NA12812,NA12875,NA12891,NA18503,NA18504,NA18506,NA18508,NA18516,NA18517,NA18524,NA18529,NA18545,NA18552,NA18571,NA18573,NA18576,NA18582,NA18603,NA18608,NA18609,NA18611,NA18636,NA18854,NA18855,NA18856,NA18857,NA18861,NA18912,NA18913,NA18914,NA18940,NA18944,NA18947,NA18949,NA18953,NA18959,NA18964,NA18975,NA18980,NA18998,NA18999,NA19007,NA19012,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19116,NA19140,NA19143,NA19145,NA19152,NA19172,NA19193,NA19194,NA19202,NA19206,NA19207,NA19208,NA19210,NA19211,NA19221,NA19222,NA19223,NA19240 nsv428393 22 45033607 45076640 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454016,nssv454017,nssv454018 M 62 3 0 CN5H6.4,GTSE1,PKDREJ,TTC38 HGDP00986,NA18498,NA19096 nsv818001 22 45052876 45063222 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417202 S 112 0 1 TTC38 NA18558 nsv471214 22 45052876 45142335 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545586 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CELSR1,CN5H6.4,GTSE1,TRMU,TTC38 HGDP00298 nsv829294 22 45067297 45068748 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427233 S 31 0 1 TTC38 AK6 nsv525512 22 45088545 45101064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701645 S 2026 0 1 GTSE1 nsv834225 22 45098145 45285360 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456177 S 95 0 1 CELSR1,GTSE1,TRMU dgv5015n71 22 45116231 45200026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915358,nsv915357 M 6533 0 3 CELSR1,TRMU MS10769,MS13770,MS16315 nsv524100 22 45130971 45131843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699975 S 2026 0 1 TRMU nsv3652 22 45137113 45154506 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5933 S 9 1 0 CELSR1 NA19129 nsv915359 22 45142335 45302918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534786 S 6533 0 1 CELSR1 MS11726 nsv459906 22 45185898 45216818 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536563 S 1557 0 1 CELSR1 1782681313_A nsv915360 22 45210629 45242042 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575247 S 6533 0 1 CELSR1 IS33684 nsv3653 22 45237830 45263250 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7757 S 9 1 0 CELSR1 NA12156 esv1010472 22 45242910 45245994 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563860 S 3 1 0 CELSR1 HuRef nsv513595 22 45244428 45244560 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626847 S 1 1 0 CELSR1 1 esv22945 22 45251367 45251962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9902 S 451 0 1 CELSR1 NA12006 nsv523749 22 45258351 45265187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699566 S 2026 0 1 CELSR1 nsv520515 22 45265187 45267548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697464 S 2026 0 1 CELSR1 nsv818002 22 45265187 45267548 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417957 S 112 0 1 CELSR1 NA18853 nsv834227 22 45274089 45518145 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456179,nssv1456181,nssv1456178,nssv1456184,nssv1456182,nssv1456180,nssv1456183 M 95 0 7 CELSR1,CERK,GRAMD4 esv1685651 22 45276993 45276993 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726707 S 2 1 0 CELSR1 HuRef dgv5016n71 22 45280423 45457224 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915361,nsv915364 M 6533 0 2 CELSR1,GRAMD4 MS10311,MS18276 nsv522435 22 45284197 45294944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705791 S 2026 0 1 CELSR1 dgv5017n71 22 45284197 45517323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915363,nsv915362,nsv915366 M 6533 0 3 CELSR1,CERK,GRAMD4 IS33684,MS16153,MS17208 nsv829295 22 45292943 45376405 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435634 S 31 0 1 CELSR1 NA18942 nsv829296 22 45299438 45392868 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437203 S 31 1 0 CELSR1 NA18542 nsv915365 22 45308771 45362409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572018 S 6533 0 1 CELSR1 IS32841 nsv519958 22 45330103 45339942 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697147 S 2026 1 0 "" esv6528 22 45341417 45342716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28969 S 1 0 1 "" SJK dgv5018n71 22 45365751 45487333 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915367,nsv915370,nsv915371 M 6533 0 3 CERK,GRAMD4 IS39233,MS10769,MS13095 esv2538361 22 45379999 45381925 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161650 S 1 0 1 "" NA18507 esv1465557 22 45380573 45381058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204446 S 2 0 1 "" HuRef esv1730823 22 45381242 45381242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3607488 S 2 1 0 "" HuRef esv1189226 22 45389779 45390035 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293169 S 2 0 1 "" HuRef esv2435478 22 45390152 45392308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383613 S 1 0 1 "" NA18507 nsv915368 22 45391264 45435220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554984 S 6533 0 1 GRAMD4 MS21124 dgv5019n71 22 45391264 45457224 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915369,nsv915372 M 6533 0 2 GRAMD4 IS32737,IS37172 esv989939 22 45391356 45391795 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580179 S 3 0 1 "" HuRef nsv191309 22 45391436 45391487 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209887 M 24 "" nsv191318 22 45396003 45396074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209896 M 24 "" esv1007600 22 45396150 45396221 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574186 S 3 0 1 "" HuRef esv1088797 22 45396173 45396245 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635676 S 2 0 1 "" HuRef nsv915373 22 45399867 45522517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574038 S 6533 0 1 CERK,GRAMD4 IS33504 esv25117 22 45406014 45406604 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20350 S 451 0 3 GRAMD4 NA18523,NA18909,NA19190 nsv820467 22 45406014 45406604 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420171 S 1 0 1 GRAMD4 NA10851 esv6748 22 45409583 45409694 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29189 S 1 1 0 GRAMD4 SJK esv1441208 22 45409829 45409829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732683 S 2 1 0 GRAMD4 HuRef esv1407556 22 45409902 45409902 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244288 S 2 1 0 GRAMD4 HuRef esv1433804 22 45409948 45409948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067844 S 2 1 0 GRAMD4 HuRef dgv5020n71 22 45416523 45481386 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915374,nsv915375 M 6533 0 2 CERK,GRAMD4 IS32841,MS10311 esv2564691 22 45417266 45418082 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291356 S 1 1 0 GRAMD4 NA18507 nsv915376 22 45436237 45481386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572852 S 6533 0 1 CERK,GRAMD4 IS33178 esv1786220 22 45455149 45455149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074974 S 2 1 0 "" HuRef esv2022578 22 45461629 45462063 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864087 S 1 0 1 CERK NA18507 nsv191421 22 45461790 45461851 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209999 M 24 CERK nsv915377 22 45473054 45548339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531081 S 6533 0 1 CERK,TBC1D22A MS10311 nsv3654 22 45530261 45550206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5934 S 9 1 0 TBC1D22A NA19129 esv8816 22 45536452 45536563 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31257 S 1 1 0 "" SJK esv1249816 22 45546936 45547183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311822 S 2 0 1 TBC1D22A HuRef esv272315 22 45617994 45618354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580678,essv2579410 M 7 2 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA19238,NA19240 esv268092 22 45618009 45618325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520800,essv2557565,essv2569433,essv2536881,essv2539232,essv2569744,essv2539487,essv2574805,essv2572742,essv2549602,essv2545864,essv2574312 M 157 12 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA18498,NA18499,NA18508,NA18517,NA18519,NA18520,NA18912,NA19138,NA19143,NA19225,NA19239,NA19240 nsv3656 22 45627253 45656745 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2381 S 9 1 0 TBC1D22A NA18555 esv28794 22 45633443 45635299 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12718 S 451 2 3 TBC1D22A NA18502,NA18511,NA18907,NA19099,NA19108 nsv820597 22 45633443 45635299 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420172 S 1 0 1 TBC1D22A NA10851 esv993620 22 45633543 45633850 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580057 S 3 0 1 TBC1D22A HuRef nsv525182 22 45646570 45646733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701260 S 2026 0 1 TBC1D22A esv2536193 22 45647750 45649053 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189286 S 1 0 1 TBC1D22A NA18507 esv2623937 22 45652537 45653044 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190182 S 1 1 0 TBC1D22A NA18507 esv1135927 22 45652905 45652905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008508 S 2 1 0 TBC1D22A HuRef dgv5021n71 22 45665686 45837574 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915379,nsv915378 M 6533 0 3 TBC1D22A IS38207,MS13735,MS23205 nsv520549 22 45688015 45694208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697480 S 2026 0 1 TBC1D22A esv269667 22 45713598 45713683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514125,essv2518952,essv2518230 M 157 3 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA12043,NA19141,NA19240 esv273174 22 45713598 45713683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581096 S 7 1 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA19240 esv988178 22 45715276 45715418 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568195 S 3 0 1 TBC1D22A HuRef nsv915380 22 45729595 45826101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543881 S 6533 0 1 TBC1D22A MS16153 nsv519607 22 45759124 45846665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682496,nssv693192,nssv694076,nssv663377,nssv657053,nssv694991 M 2026 0 6 TBC1D22A dgv1413e1 22 45767978 45989184 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10766,essv11097,essv5601,essv24683,esv257,essv19585,essv21419 M 271 0 0 TBC1D22A NA11829,NA12717,NA12864,NA18523,NA18529,NA19211 nsv834228 22 45774295 45969174 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456185 S 95 0 1 TBC1D22A esv268589 22 45795032 45795321 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494362,essv2504294,essv2502998,essv2494955,essv2506303,essv2498946,essv2493509,essv2498824,essv2510464,essv2497106,essv2512073,essv2498083 M 157 12 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA18502,NA18505,NA18507,NA18520,NA18523,NA19114,NA19137,NA19138,NA19172,NA19190,NA19238,NA19240 esv273094 22 45795038 45795292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580205,essv2580486,essv2579836,essv2580516,essv2579693 M 7 5 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA12878,NA12891,NA12892,NA19238,NA19240 nsv834229 22 45803730 45834490 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456186 S 95 0 1 TBC1D22A nsv3657 22 45813831 45848800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1646 S 9 1 0 TBC1D22A NA19240 nsv471217 22 45815366 45837574 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545589 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TBC1D22A HGDP00290 esv997281 22 45818431 45831535 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564418 S 3 0 1 TBC1D22A HuRef esv22144 22 45837913 45838613 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14616 S 451 0 1 TBC1D22A NA19240 esv2109953 22 45838328 45838772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823408 S 1 0 1 TBC1D22A NA18507 esv5332 22 45838398 45838652 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27773 S 1 0 1 Single Asian sample YH TBC1D22A YH esv990234 22 45840214 45840215 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570091 S 3 1 0 TBC1D22A HuRef nsv191217 22 45840216 45840216 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209795 M 24 TBC1D22A esv2038414 22 45844051 45844447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737774 S 1 0 1 TBC1D22A NA18507 esv1308585 22 45844287 45844935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309077 S 2 0 1 TBC1D22A HuRef esv1511173 22 45845324 45845420 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999184 S 2 0 1 TBC1D22A HuRef nsv510519 22 45847272 45853272 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622329,nssv621512 M 4 0 2 TBC1D22A NA10860,NA15510 esv988931 22 45865864 45865866 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583410 S 3 1 0 TBC1D22A HuRef esv1186853 22 45865867 45865867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608837 S 2 1 0 TBC1D22A HuRef dgv5022n71 22 45869167 45981833 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915383,nsv915381 M 6533 0 2 TBC1D22A MS10769,MS13095 dgv5023n71 22 45882946 45961150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915382,nsv915385,nsv915384 M 6533 0 3 TBC1D22A IS39233,MS10311,MS16153 nsv515802 22 45888585 45951921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699619,nssv677773,nssv695586,nssv674754,nssv695157,nssv705814,nssv664826,nssv674539,nssv657054 M 2026 0 9 TBC1D22A nsv459908 22 45899473 45926985 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536565 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TBC1D22A HGDP01248 dgv5024n71 22 45914546 45949867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915387,nsv915389,nsv915386 M 6533 0 3 TBC1D22A IS32841,MS11726,MS17208 esv2279886 22 45918914 45919321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848203 S 1 0 1 TBC1D22A NA18507 nsv915388 22 45919081 45941661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550065 S 6533 0 1 TBC1D22A MS18276 dgv5025n71 22 45931369 45986066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915390,nsv915391 M 6533 0 2 TBC1D22A IS33684,IS37646 dgv5026n71 22 45934895 45954593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915392,nsv915393 M 6533 0 2 TBC1D22A IS32322,IS37985 esv2144294 22 45936735 45937305 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772762 S 1 0 1 TBC1D22A NA18507 nsv191549 22 45936923 45936996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210127 M 24 TBC1D22A nsv191517 22 45936923 45937033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210095 M 24 TBC1D22A nsv3658 22 45943400 45955605 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1647 S 9 1 0 TBC1D22A NA19240 esv1982652 22 45946116 45946565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612810 S 1 0 1 TBC1D22A NA18507 essv11661 22 45949737 45989184 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. TBC1D22A NA19154 nsv191355 22 45950881 45950988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209933 M 24 "" esv270460 22 45970255 45970541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498608,essv2498923 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA19138 esv34010 22 45974954 45987710 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv23113 22 45985415 45988270 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11891 S 451 0 6 "" NA06985,NA12044,NA12878,NA18916,NA19114,NA19240 nsv191411 22 45986205 45986720 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209989 M 24 "" nsv191410 22 45987069 45987069 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209988 M 24 "" esv1926855 22 46035046 46035520 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888660 S 1 0 1 "" NA18507 nsv191476 22 46035242 46035313 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210054 M 24 "" dgv264n21 22 46049871 46066282 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522864,nsv526738 M 2026 0 2 "" nsv526695 22 46063700 46064331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703032 S 2026 0 1 "" esv2278546 22 46074971 46075718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540604 S 1 0 1 "" NA18507 dgv580n27 22 46089479 46127214 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459910,nsv459911 M 1557 2 0 LOC339685 HGDP00623,HGDP00650 nsv915394 22 46114682 46199332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531083 S 6533 0 1 LOC339685 MS10311 esv1007742 22 46119410 46119410 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576534 S 3 1 0 "" HuRef nsv191314 22 46119412 46119412 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209892 M 24 "" esv1001084 22 46119440 46119440 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584795 S 3 1 0 "" HuRef esv1301907 22 46119441 46119441 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776910 S 2 1 0 "" HuRef nsv915395 22 46141822 46183834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547127 S 6533 0 1 LOC339685 MS17208 nsv191209 22 46145053 46145053 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209787 M 24 LOC339685 nsv3659 22 46154197 46189293 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1648 S 9 1 0 "" NA19240 esv2160012 22 46160479 46161032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608310 S 1 0 1 "" NA18507 esv3858 22 46160617 46160967 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26299 S 1 0 1 Single Asian sample YH "" YH esv7484 22 46160657 46160864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29925 S 1 0 1 "" SJK esv2466868 22 46177875 46179034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192249 S 1 0 1 "" NA18507 esv28109 22 46179692 46180322 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15577 S 451 2 0 "" NA18909,NA19114 esv1153555 22 46179987 46180228 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231775 S 2 0 1 "" HuRef esv993968 22 46180020 46180260 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578896 S 3 0 1 "" HuRef nsv829298 22 46263107 46269305 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434847 S 31 0 1 "" NA18570 esv1946087 22 46294716 46295089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613636 S 1 0 1 "" NA18507 dgv5027n71 22 46299645 46815944 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915396,nsv915400 M 6533 2 0 FLJ46257 IS30035,IS35027 dgv5028n71 22 46314029 46377435 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915398,nsv915397 M 6533 2 0 "" IS30035,IS34627 nsv915399 22 46362616 46424553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547128 S 6533 0 1 FLJ46257 MS17208 esv25993 22 46374849 46375479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11213 S 451 0 1 "" NA19108 esv1072378 22 46377923 46377923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306148 S 2 1 0 "" HuRef esv998150 22 46380494 46390854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564736 S 3 0 1 "" HuRef esv1307510 22 46387749 46387749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763908 S 2 1 0 "" HuRef esv2571978 22 46428588 46429587 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336854 S 1 1 0 "" NA18507 nsv915401 22 46475755 46556769 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577982 S 6533 1 0 "" IS34627 esv28229 22 46506708 46507343 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18872 S 451 2 0 "" NA15510,NA19108 esv1519494 22 46507111 46507231 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706013 S 2 0 1 "" HuRef nsv528726 22 46525401 46527861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705381 S 2026 0 1 "" nsv915402 22 46557997 46815944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577983 S 6533 1 0 "" IS34627 esv2536252 22 46583982 46584779 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292872 S 1 1 0 "" NA18507 esv5187 22 46584210 46584554 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27628 S 1 0 1 Single Asian sample YH "" YH esv1505961 22 46584442 46584442 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366311 S 2 1 0 "" HuRef nsv519733 22 46600283 46614904 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657995,nssv659202 M 2026 2 0 "" nsv915403 22 46637346 46721405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552502 S 6533 0 1 "" MS19466 nsv834230 22 46649763 46893546 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456188,nssv1456187,nssv1456191,nssv1456194,nssv1456193,nssv1456190,nssv1456192,nssv1456195,nssv1456201,nssv1456189,nssv1456197,nssv1456196,nssv1456200,nssv1456199,nssv1456198,nssv1456204,nssv1456203,nssv1456202 M 95 3 15 "" nsv829299 22 46679983 46680611 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431797 S 31 1 0 "" NA18947 nsv191196 22 46690708 46690757 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209774 M 24 "" dgv1414e1 22 46816389 46833357 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv959,essv13396 M 271 0 0 "" NA18872 nsv518505 22 46835804 46857093 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695946 S 2026 1 0 "" esv23397 22 46860126 46862229 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21025,esv10768 M 451 2 0 "" NA06985,NA19114 nsv521179 22 46862049 46871377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697830 S 2026 0 1 "" nsv915404 22 46890516 46917427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534788,nssv1529909 M 6533 0 2 "" MS10123,MS11726 esv1034101 22 46891894 46891894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715327 S 2 1 0 "" HuRef nsv834231 22 46893547 47064651 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456205 S 95 1 0 MIR3201 dgv1415e1 22 46903974 46905876 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv579,essv22324 M 271 0 0 "" NA06985,NA18998 dgv1416e1 22 46903974 46908346 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6576,essv8823,essv1510,essv20791,essv21073,essv24940,essv5545,essv12586,essv11727,essv8201,essv17539,essv18242,essv16984,essv7170,essv9004,essv23120,essv15747,essv16305,essv11126,essv10675,essv19494,essv6910,essv22746,esv148,essv23045,essv15886,essv16330,essv18073,essv22440,essv9797,essv8446,essv9744,essv15539,essv17915,essv14570,essv22378,essv18843,essv20590,essv10154,essv21435,essv10580,essv15988,essv19697,essv10737,essv23824 M 271 0 0 "" NA06991,NA06994,NA07019,NA07056,NA12003,NA12057,NA12145,NA12146,NA12264,NA12717,NA12751,NA12761,NA12762,NA12763,NA12812,NA12864,NA12875,NA12891,NA18501,NA18505,NA18508,NA18516,NA18523,NA18529,NA18547,NA18605,NA18621,NA18855,NA18863,NA18913,NA18980,NA19098,NA19116,NA19130,NA19131,NA19132,NA19144,NA19154,NA19161,NA19193,NA19202,NA19211,NA19223,NA19240 dgv1417e1 22 46905776 46908346 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12249,essv18983 M 271 0 0 "" NA12005,NA19101 nsv191166 22 46944790 46945277 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209744 M 24 "" nsv191177 22 46944994 46945265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209755 M 24 "" esv25718 22 46973385 46974201 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12736 S 451 0 1 "" NA19099 esv2341183 22 47000782 47001243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719719 S 1 0 1 "" NA18507 esv2059443 22 47023716 47024383 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986362 S 1 0 1 "" NA18507 nsv191344 22 47023875 47024192 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209922 M 24 "" esv994238 22 47023877 47024194 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585360 S 3 0 1 "" HuRef esv5481 22 47023880 47024193 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27922 S 1 0 1 "" SJK esv1642330 22 47023887 47024205 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631459 S 2 0 1 "" HuRef nsv512661 22 47025940 47028812 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625280 S 1 0 1 "" 1 esv25292 22 47026291 47027811 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14309 S 451 2 0 "" NA12239,NA19129 nsv821413 22 47026291 47027811 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420173 S 1 0 1 "" NA10851 esv1747587 22 47026813 47026867 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119984 S 2 0 1 "" HuRef esv1122892 22 47026896 47027194 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223570 S 2 0 1 "" HuRef esv1233267 22 47027283 47027527 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059794 S 2 0 1 "" HuRef esv1010173 22 47027476 47027719 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580676 S 3 0 1 "" HuRef esv1583220 22 47064702 47064975 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121374 S 2 0 1 "" HuRef nsv915405 22 47069817 47100249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543883,nssv1531084 M 6533 0 2 "" MS10311,MS16153 nsv915406 22 47069817 47122845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547129 S 6533 0 1 "" MS17208 esv1078473 22 47111859 47111930 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955728 S 2 0 1 "" HuRef nsv829300 22 47118897 47119416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423817 S 31 0 1 "" NA18547 nsv818003 22 47128327 47154896 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415726 S 112 1 0 "" NA12248 nsv834232 22 47133293 47327586 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456206 S 95 0 1 FAM19A5,LOC284933 dgv1418e1 22 47153275 47194897 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv690,essv15861,essv12193,essv15280,essv17475,essv13772,esv168,essv23515 M 271 0 0 "" NA07034,NA12762,NA18975,NA19094,NA19101,NA19153,NA19223 nsv508742 22 47161113 47236323 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621154 S 4 1 0 "" NA15510 esv2513084 22 47175943 47176004 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244134 S 1 0 1 "" NA18507 nsv459913 22 47182108 47231227 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536568 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00947 nsv471218 22 47182108 47231227 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545590 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00947 nsv915407 22 47190610 47208050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547130 S 6533 0 1 "" MS17208 nsv915408 22 47190610 47222142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531085 S 6533 0 1 "" MS10311 nsv818004 22 47194900 47198687 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417313 S 112 0 1 "" NA18608 nsv191307 22 47204203 47204203 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209885 M 24 "" dgv778n67 22 47228300 47439949 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829306,nsv829301,nsv829303,nsv829302 M 31 4 0 FAM19A5,LOC284933 AK14,NA18542,NA18968,NA18969 nsv915409 22 47231227 47284959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586140 S 6533 0 1 FAM19A5 IS37646 nsv915410 22 47243342 47339073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532563 S 6533 0 1 FAM19A5,LOC284933 MS10769 esv2233081 22 47253550 47253991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849877 S 1 0 1 "" NA18507 esv4543 22 47253726 47254217 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26984 S 1 0 1 Single Asian sample YH "" YH nsv829304 22 47257163 47274933 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428801 S 31 1 0 FAM19A5 AK10 dgv5029n71 22 47259952 47540937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915411,nsv915413,nsv915412 M 6533 0 3 FAM19A5,LOC284933 MS10311,MS16153,MS17208 nsv829305 22 47260589 47270591 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427234 S 31 1 0 FAM19A5 AK6 dgv779n67 22 47261245 47267248 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829309,nsv829307 M 31 2 0 FAM19A5 NA18526,NA18947 nsv829310 22 47262658 47266815 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437363 S 31 1 0 FAM19A5 NA18592 nsv829311 22 47263423 47264906 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431819 S 31 1 0 FAM19A5 NA18947 nsv829312 22 47266347 47266815 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423119 S 31 1 0 FAM19A5 NA18969 esv2358153 22 47270602 47271007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847886 S 1 0 1 FAM19A5 NA18507 esv2538802 22 47271405 47273025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328726 S 1 0 1 FAM19A5 NA18507 esv28019 22 47272018 47272793 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20644 S 451 0 5 FAM19A5 NA12414,NA18523,NA19108,NA19114,NA19240 nsv818005 22 47274438 47275674 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416522 S 112 0 1 FAM19A5 NA18516 nsv915414 22 47286209 47315440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550066,nssv1592519 M 6533 0 2 FAM19A5,LOC284933 IS39233,MS18276 dgv5030n71 22 47290947 47437514 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915421,nsv915415 M 6533 0 2 FAM19A5,LOC284933 IS33684,MS18276 nsv915416 22 47297493 47857523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553493 S 6533 1 0 FAM19A5,LOC100128946,LOC284933,MIR4535 MS20047 dgv5031n71 22 47308531 47340043 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915417,nsv915418 M 6533 0 2 FAM19A5,LOC284933 IS32888,MS11306 nsv915419 22 47310862 47354194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586141 S 6533 0 1 FAM19A5,LOC284933 IS37646 nsv915420 22 47323674 47401190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544370 S 6533 0 1 FAM19A5 MS16315 nsv829313 22 47344313 47354937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428802 S 31 1 0 FAM19A5 AK10 nsv829314 22 47344427 47367089 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427235 S 31 1 0 FAM19A5 AK6 nsv829315 22 47348134 47353060 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434145 S 31 1 0 FAM19A5 NA18526 dgv5032n71 22 47354194 47445747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915422,nsv915423,nsv915424 M 6533 0 3 FAM19A5 IS40396,IS40799,MS13770 esv2619129 22 47387254 47388011 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316792 S 1 1 0 FAM19A5 NA18507 nsv513596 22 47387436 47387619 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626848 S 1 1 0 FAM19A5 1 esv2250197 22 47389429 47390124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960863 S 1 0 1 FAM19A5 NA18507 esv998435 22 47389601 47390027 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571615 S 3 0 1 FAM19A5 HuRef esv24783 22 47401381 47403866 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16757 S 451 1 0 FAM19A5 NA15510 nsv915425 22 47402193 47420303 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592520 S 6533 0 1 FAM19A5 IS39233 nsv915426 22 47402193 47445747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533607 S 6533 0 1 FAM19A5 MS11237 nsv915427 22 47402193 47537309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570888 S 6533 0 1 FAM19A5 IS32322 dgv5033n71 22 47406969 47439872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915428,nsv915429 M 6533 0 2 FAM19A5 IS38840,MS13095 dgv5034n71 22 47415694 47446381 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915430,nsv915431,nsv915432 M 6533 0 3 FAM19A5 MS10123,MS11306,MS13011 esv29647 22 47420533 47421349 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21416 S 451 0 1 FAM19A5 NA19240 esv997814 22 47423270 47423270 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571238 S 3 1 0 FAM19A5 HuRef nsv915433 22 47425790 47447480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534789 S 6533 0 1 FAM19A5 MS11726 esv29827 22 47437362 47438052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17307 S 451 0 3 FAM19A5 NA12239,NA19114,NA19147 esv28096 22 47448886 47450956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18741,esv9747 M 451 0 32 FAM19A5 NA06985,NA07045,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv512662 22 47449769 47451688 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625281 S 1 0 1 FAM19A5 1 esv2462207 22 47449778 47451664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257358 S 1 0 1 FAM19A5 NA18507 esv996738 22 47449868 47450841 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564826 S 3 0 1 FAM19A5 HuRef esv1984946 22 47449874 47450794 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748367 S 1 0 1 FAM19A5 NA18507 esv3974 22 47449923 47451101 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26415 S 1 0 1 Single Asian sample YH FAM19A5 YH esv1005087 22 47449936 47450896 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586058 S 3 0 1 FAM19A5 HuRef nsv820625 22 47449936 47451041 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420174 S 1 0 1 FAM19A5 NA10851 esv1337416 22 47449979 47450307 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820634 S 2 0 1 FAM19A5 HuRef esv6768 22 47449995 47450916 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29209 S 1 0 1 FAM19A5 SJK esv1705117 22 47450336 47450787 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272017 S 2 0 1 FAM19A5 HuRef nsv915434 22 47456212 47527715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533834 S 6533 0 1 FAM19A5 MS11306 nsv915435 22 47459250 47483337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596101 S 6533 0 1 FAM19A5 IS40396 nsv524377 22 47460737 47463280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700292 S 2026 0 1 FAM19A5 nsv191479 22 47461171 47461768 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210057 M 24 FAM19A5 esv2300898 22 47463985 47464594 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594070 S 1 0 1 FAM19A5 NA18507 esv993242 22 47464138 47464413 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570731 S 3 0 1 FAM19A5 HuRef nsv3660 22 47468011 47501540 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7758 S 9 1 0 FAM19A5 NA12156 dgv5035n71 22 47471717 47504604 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915437,nsv915436 M 6533 0 2 FAM19A5 MS16315,MS18276 nsv915438 22 47477436 47561015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538781 S 6533 0 1 FAM19A5 MS13770 esv275178 22 47482320 47484525 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585748 S 1250 0 1 FAM19A5 nsv459914 22 47483337 47501686 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536569 S 1557 0 1 FAM19A5 NINDS_182 nsv915439 22 47486086 47541323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597386 S 6533 0 1 FAM19A5 IS40799 dgv5036n71 22 47489666 47531306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915440,nsv915441 M 6533 0 2 FAM19A5 IS33665,IS38293 dgv5037n71 22 47505718 47541323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915442,nsv915444 M 6533 0 2 FAM19A5 IS38176,IS38403 nsv915443 22 47505718 47561015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534790 S 6533 0 1 FAM19A5 MS11726 nsv829316 22 47506907 47515467 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423130 S 31 1 0 FAM19A5 NA18969 esv1166452 22 47508484 47508484 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856844 S 2 1 0 FAM19A5 HuRef nsv829317 22 47509185 47512050 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432635 S 31 1 0 FAM19A5 AK20 nsv459915 22 47517198 47537309 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536570 S 1557 0 1 FAM19A5 1780862303_A esv22451 22 47517622 47518307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17642 S 451 1 0 FAM19A5 NA19190 esv1138502 22 47517762 47517762 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224991 S 2 1 0 FAM19A5 HuRef esv1418211 22 47517934 47517934 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312433 S 2 1 0 FAM19A5 HuRef esv2149667 22 47517968 47518415 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709992 S 1 0 1 FAM19A5 NA18507 dgv5038n71 22 47520723 47541323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915445,nsv915448 M 6533 0 2 FAM19A5 IS37577,SP55992 nsv915446 22 47520723 47550122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580990 S 6533 0 1 FAM19A5 IS35484 nsv915447 22 47520723 47609172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543885 S 6533 0 1 FAM19A5,MIR4535 MS16153 nsv829318 22 47524136 47535088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428804 S 31 1 0 FAM19A5 AK10 nsv521221 22 47527715 47527833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697852 S 2026 0 1 FAM19A5 dgv1419e1 22 47530936 47540829 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20275,essv5531,essv549,essv18164,essv11732,essv24941,esv369,essv7200,essv19580,essv17524,essv3339,essv10768,essv6902,essv17935,essv18308 M 271 0 0 FAM19A5 NA06994,NA10846,NA12003,NA12057,NA12144,NA12762,NA12864,NA18523,NA18529,NA18547,NA18605,NA18945,NA18998,NA19154 nsv829320 22 47531909 47533679 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429540 S 31 1 0 FAM19A5 AK12 nsv829321 22 47554085 47554632 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438569 S 31 0 1 "" NA18951 dgv5039n71 22 47561097 47589633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915449,nsv915451,nsv915452 M 6533 0 3 MIR4535 IS33178,MS17208,MS18276 nsv915450 22 47561097 47633146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531087 S 6533 0 1 MIR4535 MS10311 esv1000713 22 47579279 47579279 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576681 S 3 1 0 "" HuRef dgv5040n71 22 47581322 47606710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915453,nsv915454 M 6533 0 2 "" IS38403,IS40799 nsv516046 22 47582016 47587710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671233,nssv683895,nssv689677,nssv673313,nssv698873,nssv679051,nssv665875 M 2026 0 7 "" nsv519239 22 47589974 47590619 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696732 S 2026 0 1 "" nsv520623 22 47595366 47600038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697523 S 2026 0 1 "" esv1944659 22 47596590 47597018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000434 S 1 0 1 "" NA18507 nsv915455 22 47601896 47713629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538782 S 6533 0 1 LOC100128946 MS13770 esv3728 22 47632985 47633510 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26169 S 1 0 1 Single Asian sample YH "" YH esv1010340 22 47633223 47633362 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571039 S 3 0 1 "" HuRef esv1287006 22 47633234 47633374 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882600 S 2 0 1 "" HuRef esv1761031 22 47644627 47644707 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852906 S 2 0 1 "" HuRef nsv915456 22 47644664 47746576 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547133 S 6533 0 1 LOC100128946 MS17208 nsv471219 22 47679615 47791598 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545591 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100128946 HGDP00614 nsv915457 22 47685005 47707693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541463 S 6533 0 1 "" MS15312 esv2014966 22 47692259 47692746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4850137 S 1 0 1 "" NA18507 esv1697628 22 47698357 47698470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059502 S 2 0 1 "" HuRef esv995552 22 47698436 47698548 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569242 S 3 0 1 "" HuRef nsv834233 22 47699685 47901364 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456207 S 95 1 0 "" nsv527814 22 47737771 47791598 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704308 S 2026 1 0 "" nsv915458 22 47737771 47798201 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597798 S 6533 1 0 "" IS41166 esv25969 22 47741459 47742654 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15219 S 451 0 4 "" NA18916,NA19108,NA19147,NA19240 esv2334761 22 47741556 47742046 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996180 S 1 0 1 "" NA18507 esv1276231 22 47741844 47741940 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752551 S 2 0 1 "" HuRef esv2321371 22 47742006 47742460 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625076 S 1 0 1 "" NA18507 esv1114837 22 47742122 47742218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033470 S 2 0 1 "" HuRef nsv510520 22 47742358 47748358 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618467 S 4 0 1 "" CHM nsv459917 22 47744757 47790053 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536571 S 1557 1 0 "" 1787431197_A nsv508743 22 47745358 47778024 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621155,nssv619884,nssv623853 M 4 3 0 "" NA10860,NA15510,NA18994 dgv5041n71 22 47752127 47903228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915459,nsv915460 M 6533 0 2 "" MS10311,MS17208 esv1151928 22 47753951 47754031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160657 S 2 0 1 "" HuRef nsv3661 22 47758216 47790090 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6989 S 9 1 0 "" NA12156 esv2579808 22 47766498 47779454 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254821 S 1 0 1 "" NA18507 esv24484 22 47767439 47780200 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16221,esv11229 M 451 0 12 "" NA18502,NA18508,NA18511,NA18523,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225,NA19240 nsv829322 22 47774614 47778041 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428805 S 31 0 1 "" AK10 nsv508744 22 47782832 47816107 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619885 S 4 1 0 "" NA10860 nsv915461 22 47800230 47870537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543886 S 6533 0 1 "" MS16153 esv989035 22 47811317 47811612 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564114 S 3 1 0 "" HuRef nsv513597 22 47811398 47811487 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626849 S 1 1 0 "" 1 esv2642011 22 47818860 47819683 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272448 S 1 1 0 "" NA18507 nsv3662 22 47837167 47852628 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2382 S 9 1 0 "" NA18555 dgv1420e1 22 47845948 47873421 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14009,esv1106 M 271 0 0 "" NA19222 esv2349329 22 47850360 47850805 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4631552 S 1 0 1 "" NA18507 esv1297630 22 47853084 47853084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273481 S 2 1 0 "" HuRef nsv519806 22 47857523 47877580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697061 S 2026 0 1 "" nsv524421 22 47870537 47871246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700347 S 2026 0 1 "" nsv915462 22 47872494 47973069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596456 S 6533 1 0 "" IS40520 esv23634 22 47875308 47876449 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14692 S 451 1 0 "" NA19240 nsv915463 22 47881385 48166009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518078 S 6533 1 0 "" SP57455 nsv915464 22 47904728 47936798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523353 S 6533 0 1 "" SP53988 dgv5042n71 22 47916287 47954656 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915470,nsv915465,nsv915468 M 6533 0 4 "" IS33684,MS10311,MS16153,MS17208 dgv5043n71 22 47918222 47980595 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv915466,nsv915467 M 6533 2 0 "" IS30127,IS37110 nsv915469 22 47923330 47945246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580991,nssv1532564 M 6533 0 2 "" IS35484,MS10769 nsv524422 22 47928225 47936798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700348 S 2026 0 1 "" dgv5044n71 22 47928225 47979851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915472,nsv915471 M 6533 0 2 "" IS32322,MS13770 nsv915473 22 47928225 48046496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537191 S 6533 0 1 "" MS13095 nsv829323 22 47929393 47929939 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430310 S 31 1 0 "" AK14 esv993720 22 47937584 47937591 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581398 S 3 1 0 "" HuRef esv1595762 22 47938121 47938121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262645 S 2 1 0 "" HuRef nsv191537 22 47946340 47946340 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210115 M 24 "" esv991717 22 47947997 47948075 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579878 S 3 0 1 "" HuRef esv1235759 22 47948011 47948089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981248 S 2 0 1 "" HuRef esv275388 22 47958169 47962661 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585688 S 1250 0 1 "" nsv915474 22 47960995 47989671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543888 S 6533 0 1 "" MS16153 nsv915475 22 47960995 48028001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547136 S 6533 0 1 "" MS17208 nsv524202 22 47977447 47978086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700088 S 2026 0 1 "" nsv834234 22 48005560 48179983 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456208,nssv1456209 M 95 0 2 "" esv275583 22 48009185 48013261 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586101 S 1250 0 1 "" esv2581461 22 48019158 48019973 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272945 S 1 1 0 "" NA18507 esv1758702 22 48019590 48019590 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4216683 S 2 1 0 "" HuRef nsv915476 22 48022904 48046496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534791 S 6533 0 1 "" MS11726 nsv438349 22 48032315 48033890 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470969,nssv470968 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18529,NA18944 nsv915477 22 48036422 48090627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531090 S 6533 0 1 "" MS10311 nsv526158 22 48047141 48053989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702417 S 2026 0 1 "" esv1005294 22 48047310 48048345 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586643 S 3 1 0 "" HuRef esv27322 22 48047310 48048345 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14803 S 451 7 0 "" NA06985,NA11931,NA12004,NA12006,NA12828,NA19129,NA19190 esv1640723 22 48047597 48047993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183416 S 2 0 1 "" HuRef nsv915478 22 48053989 48137327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554481 S 6533 0 1 "" MS20828 nsv507939 22 48055727 48061727 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617959,nssv620708,nssv621985,nssv623325 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1021892 22 48056846 48056846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758397 S 2 1 0 "" HuRef esv1608701 22 48056993 48056993 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301818 S 2 1 0 "" HuRef esv2460397 22 48058310 48058755 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320913 S 1 1 0 "" NA18507 nsv915479 22 48068960 48094228 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579687 S 6533 1 0 "" IS35162 esv992211 22 48073604 48074190 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586243 S 3 0 1 "" HuRef nsv523697 22 48079640 48082969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699504 S 2026 0 1 "" nsv524423 22 48082013 48090627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700349 S 2026 0 1 "" nsv915480 22 48091482 48111723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579743 S 6533 0 1 "" IS35176 esv25126 22 48095612 48099131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19438 S 451 0 1 "" NA19225 nsv442508 22 48096063 48098447 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421361 22 48096063 48098448 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052070,essv5128409,essv5141952,essv5009522,essv5068577,essv5087616,essv5096679,essv5114622,essv5144736,essv5098961,essv5135712,essv5099964 M 1184 0 12 "" NA18912,NA19031,NA19044,NA19224,NA19225,NA19316,NA19446,NA19448,NA19904,NA19917,NA19918,NA20359 nsv819720 22 48097601 48103440 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419739 S 2 0 1 "" AK1 nsv829324 22 48098057 48103410 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425480,nssv1430313 M 31 0 2 "" AK14,AK2 nsv517626 22 48098196 48098448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662052,nssv661720,nssv656402,nssv689182,nssv655561,nssv654573,nssv652582,nssv664738 M 2026 0 8 "" nsv527760 22 48098196 48108929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704247 S 2026 0 1 "" esv26059 22 48101452 48103557 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20515 S 451 0 5 "" NA11931,NA12287,NA12749,NA12776,NA12828 esv7447 22 48101784 48103418 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29888 S 1 0 1 "" SJK esv4082 22 48102466 48103400 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26523 S 1 0 1 Single Asian sample YH "" YH dgv780n67 22 48102596 48103410 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829325,nsv829326 M 31 0 15 "" AK18,AK6,AK8,NA18526,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18942,NA18947,NA18951,NA18968,NA18997 esv988478 22 48102968 48103079 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575841 S 3 0 1 "" HuRef esv1475686 22 48103042 48103154 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212444 S 2 0 1 "" HuRef nsv915481 22 48128526 48162125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532565,nssv1531091 M 6533 0 2 "" MS10311,MS10769 esv2443659 22 48134275 48138281 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215239 S 1 0 1 "" NA18507 nsv3663 22 48134473 48169054 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1649 S 9 1 0 "" NA19240 esv1945513 22 48134705 48137716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527497 S 1 0 1 "" NA18507 esv22350 22 48134853 48137568 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14924 S 451 0 1 "" NA18858 esv994517 22 48146374 48146374 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584511 S 3 1 0 "" HuRef esv1348384 22 48146444 48146444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821017 S 2 1 0 "" HuRef nsv526598 22 48147268 48154681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702917 S 2026 0 1 "" esv1633992 22 48147989 48147989 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759056 S 2 1 0 "" HuRef nsv191302 22 48148004 48148004 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209880 M 24 "" esv24227 22 48165559 48168251 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15606 S 451 7 0 "" NA07045,NA12239,NA12776,NA18861,NA19099,NA19129,NA19190 esv1006160 22 48165918 48168152 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586733 S 3 0 1 "" HuRef nsv915482 22 48166583 48334254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518079 S 6533 1 0 "" SP57455 nsv915483 22 48170156 48227074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590701 S 6533 1 0 "" IS38557 nsv915484 22 48176717 48272284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547137 S 6533 0 1 "" MS17208 esv2575505 22 48186418 48188067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382941 S 1 0 1 "" NA18507 esv4686 22 48186919 48187766 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27127 S 1 0 1 Single Asian sample YH "" YH esv22201 22 48186931 48187571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10718 S 451 0 1 "" NA19240 esv7913 22 48186969 48187638 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30354 S 1 0 1 "" SJK esv2311634 22 48186986 48187388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509121 S 1 0 1 "" NA18507 esv1973683 22 48187303 48187828 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876889 S 1 0 1 "" NA18507 nsv459921 22 48192604 48207419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536573 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00653 nsv459922 22 48202636 48220751 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536574 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00943 nsv471220 22 48202636 48247037 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545592 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00943 nsv519884 22 48202636 48247037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691116,nssv697075,nssv659302,nssv673970 M 2026 0 4 "" esv25876 22 48212796 48213246 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14902 S 451 0 1 "" NA12749 esv2107042 22 48212835 48213328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777377 S 1 0 1 "" NA18507 esv4879 22 48212841 48213400 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27320 S 1 0 1 Single Asian sample YH "" YH nsv3664 22 48216278 48247617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10329 S 9 1 0 "" NA18956 nsv510810 22 48222190 48292425 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620175 S 4 0 1 "" NA15510 nsv915485 22 48224668 48403238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543889 S 6533 0 1 C22orf34 MS16153 esv1444017 22 48226696 48226696 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349372 S 2 1 0 "" HuRef dgv581n27 22 48227074 48286253 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459924,nsv459923 M 1557 0 2 "" 1798860594_A,HGDP00519 esv5071 22 48249080 48249608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27512 S 1 0 1 Single Asian sample YH "" YH esv999740 22 48249236 48249742 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586897 S 3 1 0 "" HuRef nsv191531 22 48249278 48249488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210109 M 24 "" esv22186 22 48264208 48264895 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11829 S 451 0 5 "" NA11995,NA12287,NA18508,NA19129,NA19240 esv2209836 22 48264280 48264786 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885927 S 1 0 1 "" NA18507 nsv915486 22 48302537 48327264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531092 S 6533 0 1 "" MS10311 dgv1421e1 22 48313974 48318124 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv96,essv7024 M 271 0 0 "" NA18612 dgv5045n71 22 48314593 48494995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915487,nsv915489 M 6533 0 2 C22orf34 MS11306,MS18276 nsv915488 22 48329500 48403238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529911 S 6533 0 1 C22orf34 MS10123 esv2346218 22 48342339 48342713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516275 S 1 0 1 "" NA18507 dgv5046n71 22 48354724 48822235 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915494,nsv915490 M 6533 0 2 ALG12,BRD1,C22orf34,CRELD2,IL17REL,LOC90834,PIM3,ZBED4 IS39233,MS10311 nsv915491 22 48365092 48440394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538464,nssv1546430 M 6533 0 2 C22orf34 MS13727,MS17208 dgv5047n71 22 48389857 48452109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915493,nsv915492 M 6533 0 2 C22orf34 IS40799,MS16153 nsv915495 22 48403238 49493881 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575252 S 6533 0 1 ADM2,ALG12,ARSA,BRD1,C22orf34,C22orf41,CHKB,CHKB-CPT1B,CPT1B,CRELD2,FAM116B,HDAC10,IL17REL,KLHDC7B,LMF2,LOC100144603,LOC90834,MAPK11,MAPK12,MAPK8IP2,MIOX,MLC1,MOV10L1,NCAPH2,ODF3B,PANX2,PIM3,PLXNB2,PPP6R2,SBF1,SCO2,SELO,SHANK3,TRABD,TUBGCP6,TYMP,ZBED4 IS33684 dgv5048n71 22 48405817 48510098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915496,nsv915497 M 6533 0 2 C22orf34 IS41634,MS17208 esv2426256 22 48423822 48425404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279756 S 1 0 1 C22orf34 NA18507 nsv834235 22 48438640 48596343 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456211,nssv1456210 M 95 0 2 BRD1,LOC90834 nsv829327 22 48443020 48455748 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428806 S 31 1 0 "" AK10 esv2587479 22 48446853 48448483 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267565 S 1 0 1 "" NA18507 esv1238186 22 48447453 48447796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818373 S 2 0 1 "" HuRef nsv915498 22 48448431 48478152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543890 S 6533 0 1 "" MS16153 nsv3665 22 48455578 48488539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6990 S 9 1 0 "" NA12156 esv2504812 22 48470111 48470731 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378173 S 1 1 0 "" NA18507 esv1737839 22 48470290 48470290 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929332 S 2 1 0 "" HuRef dgv5049n71 22 48489409 48872778 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915501,nsv915503,nsv915504,nsv915500,nsv915499 M 6533 0 5 ALG12,BRD1,CRELD2,IL17REL,LOC90834,MLC1,MOV10L1,PIM3,ZBED4 IS37646,MS10769,MS16153,MS17208,MS18276 nsv915502 22 48540686 48627214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544372 S 6533 0 1 BRD1,LOC90834 MS16315 nsv3667 22 48560286 48593770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5936 S 9 1 0 BRD1 NA19129 nsv829328 22 48565017 48663439 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421427 S 31 1 0 BRD1,ZBED4 NA18968 dgv265n21 22 48581196 48627214 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519083,nsv522824 M 2026 0 2 BRD1 nsv915505 22 48589366 48638787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510468 S 6533 0 1 BRD1,ZBED4 SP54956 nsv191151 22 48636278 48636373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209729 M 24 ZBED4 esv997091 22 48636288 48636383 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575794 S 3 0 1 ZBED4 HuRef esv1290042 22 48636373 48636469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927433 S 2 0 1 ZBED4 HuRef nsv191243 22 48636425 48636520 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209821 M 24 ZBED4 nsv471221 22 48659895 48706947 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545593 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALG12,CRELD2,ZBED4 HGDP00556 nsv915506 22 48659895 48724717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574913 S 6533 0 1 ALG12,CRELD2,ZBED4 IS33665 dgv5050n71 22 48668208 48816984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915509,nsv915511,nsv915507,nsv915514,nsv915510 M 6533 0 6 ALG12,CRELD2,IL17REL,PIM3,ZBED4 IS32737,IS33514,IS40396,MS13770,SP54956,SP54988 nsv915508 22 48668208 48888793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588299 S 6533 0 1 ALG12,CRELD2,IL17REL,MLC1,MOV10L1,PIM3,ZBED4 IS38176 nsv191548 22 48682003 48682071 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210126 M 24 "" nsv915512 22 48686566 48827920 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564440 S 6533 1 0 ALG12,CRELD2,IL17REL,PIM3 IS30210 dgv5051n71 22 48686566 49160941 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915522,nsv915513 M 6533 0 2 ALG12,CRELD2,FAM116B,HDAC10,IL17REL,MAPK11,MAPK12,MLC1,MOV10L1,PANX2,PIM3,PLXNB2,PPP6R2,SELO,TRABD,TUBGCP6 IS33504,MS17208 esv29922 22 48715167 48715650 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13238 S 451 1 0 "" NA11993 nsv829329 22 48721443 48815031 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430314 S 31 1 0 IL17REL,PIM3 AK14 dgv5052n71 22 48724828 48816984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915515,nsv915516 M 6533 0 2 IL17REL,PIM3 IS31656,SP54725 dgv5053n71 22 48724828 48872778 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915518,nsv915517 M 6533 0 2 IL17REL,MLC1,MOV10L1,PIM3 IS32841,IS34304 nsv915519 22 48724828 48974632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570890 S 6533 0 1 IL17REL,MLC1,MOV10L1,PANX2,PIM3,TRABD IS32322 nsv915520 22 48777607 48816984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592866 S 6533 0 1 IL17REL IS39258 esv2607894 22 48790387 48790630 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276985 S 1 1 0 IL17REL NA18507 esv1161217 22 48801439 48801879 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885903 S 2 0 1 "" HuRef dgv582n27 22 48805358 48937969 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv459926,nsv459927,nsv459925 M 1557 3 0 MLC1,MOV10L1 HGDP00573,HGDP00581,HGDP00590 nsv471222 22 48805358 48937969 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545597,nssv545594,nssv545595,nssv545596 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MLC1,MOV10L1 HGDP00573,HGDP00581,HGDP00590,HGDP00605 nsv516273 22 48806623 48812643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679437,nssv659273,nssv667255,nssv692083,nssv667469,nssv680822 M 2026 0 6 "" esv996417 22 48806859 48806968 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585451 S 3 0 1 "" HuRef esv1725883 22 48806866 48806976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151681 S 2 0 1 "" HuRef nsv915521 22 48806991 48888793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552429 S 6533 0 1 MLC1,MOV10L1 MS19414 nsv511648 22 48807124 48811034 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626283 S 1 0 1 "" 1 esv2486996 22 48808868 48809351 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332695 S 1 1 0 "" NA18507 esv26914 22 48809218 48809998 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11233 S 451 1 1 "" NA18523,NA18916 nsv821064 22 48809218 48809998 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420175 S 1 1 0 "" NA10851 nsv915523 22 48822235 48872778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532567 S 6533 0 1 MLC1,MOV10L1 MS10769 esv25092 22 48837643 48838218 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15684 S 451 1 0 "" NA11993 nsv191413 22 48838115 48838115 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209991 M 24 "" nsv191459 22 48841254 48841304 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210037 M 24 MLC1 esv988880 22 48841315 48841365 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571398 S 3 0 1 MLC1 HuRef esv1248188 22 48844391 48844391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626688 S 2 1 0 MLC1 HuRef nsv191402 22 48861615 48861913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209980 M 24 MLC1 esv999455 22 48862749 48862810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568447 S 3 0 1 MLC1 HuRef esv1593397 22 48862762 48862824 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3707375 S 2 0 1 MLC1 HuRef nsv834236 22 48874947 48923949 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456213,nssv1456212 M 95 0 2 MOV10L1 esv33533 22 48897144 48897672 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98875,essv99754 M 51 0 2 MOV10L1 21606,22086 dgv5054n71 22 48917487 49168811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914516,nsv915529,nsv915532,nsv915528,nsv915526,nsv915524,nsv915530,nsv914508,nsv914513,nsv915527,nsv914514,nsv915537 M 6533 0 23 FAM116B,HDAC10,MAPK11,MAPK12,MOV10L1,PANX2,PLXNB2,PPP6R2,SELO,TRABD,TUBGCP6 IS30369,IS32737,IS32841,IS33239,IS33248,IS33455,IS33514,IS33665,IS34005,IS38176,IS39258,IS39417,IS40230,IS40297,MS10311,MS10698,MS10769,MS11579,MS12262,MS16153,MS16315,MS18276,SP54988 esv1452786 22 48918396 48918396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595159 S 2 1 0 MOV10L1 HuRef nsv915525 22 48924017 48974632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531094 S 6533 0 1 MOV10L1,PANX2,TRABD MS10311 esv1005534 22 48927735 48928070 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575955 S 3 0 1 MOV10L1 HuRef esv1422199 22 48927752 48928088 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152126 S 2 0 1 MOV10L1 HuRef dgv781n67 22 48933769 49095434 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829332,nsv829331 M 31 2 0 FAM116B,HDAC10,MAPK11,MAPK12,MOV10L1,PANX2,PLXNB2,SELO,TRABD,TUBGCP6 AK14,NA18968 dgv5055n71 22 48943190 49052476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915531,nsv915536 M 6533 0 2 HDAC10,MAPK11,MAPK12,PANX2,SELO,TRABD,TUBGCP6 IS34304,IS39233 esv1301912 22 48946953 48946953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010096 S 2 1 0 "" HuRef esv1037722 22 48947208 48947280 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742887 S 2 0 1 "" HuRef nsv829333 22 48948472 48983126 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434147 S 31 1 0 PANX2,SELO,TRABD NA18526 esv2386136 22 48948552 48949092 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844529 S 1 0 1 "" NA18507 dgv5056n71 22 48949014 49027635 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv915535,nsv915534,nsv915533 M 6533 0 4 HDAC10,PANX2,SELO,TRABD,TUBGCP6 IS32888,IS33178,IS37172,MS10386 dgv5057n71 22 48949538 48985756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914509,nsv914510,nsv914512 M 6533 0 6 PANX2,SELO,TRABD SP51109,SP54043,SP54593,SP54725,SP54956,SP55021 nsv829334 22 48949874 48950871 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423141 S 31 1 0 "" NA18969 nsv914511 22 48951780 48970873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511292 S 6533 0 1 PANX2,TRABD SP55019 nsv914515 22 48960865 49046788 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589934 S 6533 1 0 HDAC10,MAPK11,MAPK12,SELO,TRABD,TUBGCP6 IS38430 nsv191327 22 48970227 48970284 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209905 M 24 TRABD nsv471223 22 48970873 49052475 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545598,nssv545601,nssv545600 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HDAC10,MAPK11,MAPK12,SELO,TRABD,TUBGCP6 HGDP00298,HGDP00313,HGDP00546 esv2230097 22 49005975 49006396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626898 S 1 0 1 TUBGCP6 NA18507 esv26829 22 49017007 49019372 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13204 S 451 0 1 TUBGCP6 NA12239 nsv914517 22 49018089 49160941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598392 S 6533 0 1 FAM116B,HDAC10,MAPK11,MAPK12,PLXNB2,PPP6R2,TUBGCP6 IS40828 nsv914518 22 49023156 49039246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510471 S 6533 0 1 HDAC10,MAPK12,TUBGCP6 SP54956 dgv5058n71 22 49037497 49061378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914519,nsv914521,nsv914522,nsv914520 M 6533 0 7 MAPK11,MAPK12,PLXNB2 SP54225,SP54593,SP54937,SP54967,SP55019,SP55021,SP81010 nsv914523 22 49039645 49090170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507519 S 6533 0 1 MAPK11,MAPK12,PLXNB2 SP54725 nsv914524 22 49039645 49129839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506147 S 6533 0 1 FAM116B,MAPK11,MAPK12,PLXNB2,PPP6R2 SP54043 nsv914525 22 49039645 49371174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586143 S 6533 0 1 ADM2,C22orf41,CHKB,CHKB-CPT1B,CPT1B,FAM116B,KLHDC7B,LMF2,LOC100144603,MAPK11,MAPK12,MIOX,NCAPH2,ODF3B,PLXNB2,PPP6R2,SBF1,SCO2,TYMP IS37646 dgv5059n71 22 49044542 49061068 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914527,nsv914526 M 6533 0 2 MAPK11,PLXNB2 SP51109,SP54591 dgv5060n71 22 49044542 49073309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914530,nsv914529,nsv914528 M 6533 0 3 MAPK11,PLXNB2 SP54657,SP54672,SP54684 dgv782n67 22 49050446 49052277 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829336,nsv829335 M 31 2 0 MAPK11 AK6,NA18997 dgv5061n71 22 49052476 49106629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914532,nsv914531 M 6533 0 2 FAM116B,PLXNB2 SP54782,SP54956 esv1579920 22 49056980 49056980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771297 S 2 1 0 PLXNB2 HuRef esv1272171 22 49066130 49066130 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657531 S 2 1 0 PLXNB2 HuRef nsv191216 22 49066353 49066353 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209794 M 24 PLXNB2 esv26897 22 49128591 49133903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10150,esv13902 M 451 0 8 PPP6R2 NA11894,NA18505,NA18858,NA19099,NA19108,NA19129,NA19190,NA19240 nsv829337 22 49128682 49131769 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422345 S 31 1 0 PPP6R2 NA18997 nsv821599 22 49128682 49131774 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420176 S 1 0 1 PPP6R2 NA10851 nsv820090 22 49129839 49130879 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418856 S 2 0 1 PPP6R2 AK1 nsv3668 22 49177088 49222178 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7759 S 9 0 1 PPP6R2 NA12156 nsv191443 22 49182843 49182913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210021 M 24 PPP6R2 esv1021996 22 49183034 49183034 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815993 S 2 1 0 PPP6R2 HuRef dgv5062n71 22 49184680 49371174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914534,nsv914533,nsv914540,nsv914536,nsv914538,nsv914539 M 6533 0 6 ADM2,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,LOC100144603,MIOX,NCAPH2,ODF3B,PPP6R2,SBF1,SCO2,TYMP IS33239,IS39233,IS40297,MS10311,MS16153,MS17208 nsv834238 22 49187985 49342260 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456214,nssv1456215 M 95 0 2 ADM2,C22orf41,KLHDC7B,LMF2,MIOX,NCAPH2,ODF3B,PPP6R2,SBF1,SCO2,TYMP dgv5063n71 22 49208190 49299436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914535,nsv914537 M 6533 0 2 ADM2,LMF2,MIOX,NCAPH2,PPP6R2,SBF1 IS40230,MS10769 nsv914541 22 49216781 49276447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510473 S 6533 0 1 ADM2,MIOX,PPP6R2,SBF1 SP54956 nsv512664 22 49217567 49220406 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625283 S 1 0 1 PPP6R2 1 esv23638 22 49218032 49220572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19138 S 451 0 3 PPP6R2 NA12156,NA18523,NA19240 nsv471224 22 49220484 49365777 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545603,nssv545602 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADM2,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,MIOX,NCAPH2,ODF3B,PPP6R2,SBF1,SCO2,TYMP HGDP00825,HGDP00978 nsv914542 22 49220484 49415426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550073 S 6533 0 1 ADM2,ARSA,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,LOC100144603,MAPK8IP2,MIOX,NCAPH2,ODF3B,PPP6R2,SBF1,SCO2,TYMP MS18276 nsv914543 22 49221218 49518559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593473 S 6533 0 1 ADM2,ARSA,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,LOC100144603,MAPK8IP2,MIOX,NCAPH2,ODF3B,PPP6R2,SBF1,SCO2,SHANK3,TYMP IS39417 nsv829338 22 49226165 49274930 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430316 S 31 1 0 ADM2,MIOX,PPP6R2,SBF1 AK14 nsv914544 22 49258742 49276447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511645 S 6533 0 1 ADM2,MIOX,SBF1 SP55021 nsv3669 22 49260806 49294710 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7760 S 9 1 0 ADM2,LMF2,MIOX,NCAPH2 NA12156 dgv5064n71 22 49265272 49324890 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914547,nsv914545 M 6533 0 2 ADM2,LMF2,MIOX,NCAPH2,ODF3B,SCO2,TYMP IS40396,MS13770 dgv5065n71 22 49265272 49346048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914546,nsv914549,nsv914548 M 6533 0 4 ADM2,C22orf41,KLHDC7B,LMF2,MIOX,NCAPH2,ODF3B,SCO2,TYMP IS32841,IS33248,IS33455,IS34005 nsv834239 22 49270612 49415509 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1456222,nssv1456216,nssv1456219,nssv1456218,nssv1456217,nssv1456221,nssv1456220 M 95 0 7 ADM2,ARSA,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,LOC100144603,MAPK8IP2,MIOX,NCAPH2,ODF3B,SCO2,TYMP dgv1422e1 22 49276385 49364274 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv69,essv6981 M 271 0 0 C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,NCAPH2,ODF3B,SCO2,TYMP NA18612 dgv5066n71 22 49276447 49419027 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914550,nsv914553,nsv914551 M 6533 0 3 ARSA,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,LOC100144603,MAPK8IP2,NCAPH2,ODF3B,SCO2,TYMP IS32322,IS39363,SP54988 nsv513598 22 49280289 49280795 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626850 S 1 1 0 "" 1 nsv829339 22 49281165 49287721 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435636 S 31 0 1 "" NA18942 nsv914552 22 49284311 49299436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510474 S 6533 0 1 LMF2,NCAPH2 SP54956 nsv482079 22 49288246 49292979 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558440 S 1 1 0 LMF2 KB1 nsv914554 22 49288851 49337535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508534 S 6533 0 1 C22orf41,KLHDC7B,LMF2,NCAPH2,ODF3B,SCO2,TYMP SP54725 nsv829340 22 49291015 49388991 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421429 S 31 1 0 C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LMF2,LOC100144603,MAPK8IP2,NCAPH2,ODF3B,SCO2,TYMP NA18968 esv2343148 22 49296515 49297083 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525963 S 1 0 1 NCAPH2 NA18507 dgv5067n71 22 49299436 49417151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914560,nsv914555,nsv914558,nsv914557 M 6533 0 4 ARSA,C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LOC100144603,MAPK8IP2,NCAPH2,ODF3B,SCO2,TYMP IS30369,IS35968,IS40502,SP54956 esv2005211 22 49306437 49306874 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731751 S 1 0 1 NCAPH2 NA18507 nsv914556 22 49309074 49334928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501573 S 6533 0 1 KLHDC7B,NCAPH2,ODF3B,SCO2,TYMP SP51109 esv29683 22 49323019 49323565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18426 S 451 0 1 "" NA18508 nsv914559 22 49327684 49400585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584904 S 6533 0 1 C22orf41,CHKB,CHKB-CPT1B,CPT1B,KLHDC7B,LOC100144603,MAPK8IP2 IS37172 esv5697 22 49346451 49346536 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28138 S 1 1 0 C22orf41 SJK esv33185 22 49351485 49360672 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100861 S 51 0 1 CHKB-CPT1B,CPT1B 21656 nsv914561 22 49359938 49373073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501056 S 6533 0 1 CHKB,CHKB-CPT1B,CPT1B,LOC100144603 SP51109 dgv5068n71 22 49360864 49413787 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914562,nsv914563 M 6533 0 2 ARSA,CHKB,CHKB-CPT1B,CPT1B,LOC100144603,MAPK8IP2 SP54225,SP54725 nsv829342 22 49371914 49388380 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435637 S 31 0 1 MAPK8IP2 NA18942 dgv5069n71 22 49375068 49415426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv914567,nsv914564 M 6533 0 2 ARSA,MAPK8IP2 IS40297,SP55021 nsv914566 22 49383500 49402766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506148 S 6533 0 1 MAPK8IP2 SP54043 nsv829343 22 49384644 49391937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434148 S 31 1 0 MAPK8IP2 NA18526 nsv519694 22 49411282 49434214 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701036,nssv657594,nssv675115 M 2026 1 2 ARSA esv25913 22 49414530 49425590 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14881 S 451 2 1 "" NA06985,NA12828,NA18517 nsv818007 22 49415426 49427626 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418303,nssv1418314 M 112 2 0 "" NA06985,NA06991 nsv191561 22 49423440 49423666 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv210139 M 24 "" esv27823 22 49429000 49429590 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15288 S 451 0 1 "" NA19240 esv1171452 22 49429324 49429324 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944427 S 2 1 0 "" HuRef essv9884 22 49449104 49491270 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SHANK3 NA19145 nsv459933 22 49452422 49512530 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536581 S 1557 0 1 SHANK3 1780862197_A esv2580717 22 49454885 49455073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266890 S 1 0 1 "" NA18507 dgv784n67 22 49461178 49525364 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829349,nsv829348,nsv829350,nsv829347,nsv829345 M 31 5 0 ACR,SHANK3 AK14,AK18,NA18552,NA18949,NA18997 nsv512665 22 49464611 49468175 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625284 S 1 0 1 SHANK3 1 esv22211 22 49464833 49472350 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16672,esv14485,esv17816 M 451 20 1 SHANK3 NA07037,NA07045,NA11995,NA12004,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA15510,NA18502,NA18508,NA18511,NA18861,NA18907,NA18909,NA19099,NA19114,NA19190,NA19225 esv1366623 22 49465239 49465239 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946932 S 2 1 0 SHANK3 HuRef esv1007050 22 49465806 49466069 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576887 S 3 0 1 SHANK3 HuRef esv1327937 22 49465846 49466110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706235 S 2 0 1 SHANK3 HuRef esv988358 22 49466652 49467969 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578934 S 3 0 1 SHANK3 HuRef esv1075589 22 49466719 49468037 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070943 S 2 0 1 SHANK3 HuRef nsv513599 22 49468855 49469773 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626851 S 1 1 0 SHANK3 1 esv1399411 22 49471087 49471176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255196 S 2 0 1 SHANK3 HuRef esv1009137 22 49471088 49471176 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566386 S 3 0 1 SHANK3 HuRef nsv914570 22 49475910 49518993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511151 S 6533 0 1 SHANK3 SP54988 nsv518350 22 49480384 49493881 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695778 S 2026 0 1 SHANK3 dgv785n67 22 49480738 49485550 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829353,nsv829351 M 31 2 0 SHANK3 NA18526,NA18947 nsv829354 22 49486629 49511244 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435638 S 31 0 1 SHANK3 NA18942 nsv829355 22 49492763 49493876 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437206 S 31 1 0 SHANK3 NA18542 nsv914571 22 49499420 49522492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510476 S 6533 0 1 SHANK3 SP54956 nsv191405 22 49501304 49501385 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv209983 M 24 SHANK3 essv13762 22 49508475 49551928 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ACR,RPL23AP82,SHANK3 NA19153 nsv428394 22 49508475 49551928 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454022 S 62 0 1 ACR,RPL23AP82,SHANK3 HGDP01087 nsv9922 22 49513822 49515861 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27436 S 31 1 0 Samples from several populations that are part of the HapMap project. SHANK3 NA19240 esv25259 22 49533587 49534282 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19103 S 451 4 0 "" NA11931,NA11995,NA12414,NA12776 esv1104481 22 49533929 49534155 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872235 S 2 0 1 "" HuRef esv25306 22 49584900 49591406 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9781 S 451 0 1 RPL23AP82 NA19147 nsv876281 3 1 163865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581684,nssv1596934,nssv1542959,nssv1533148,nssv1563075,nssv1554808,nssv1599192,nssv1597535,nssv1584470,nssv1569005,nssv1561941,nssv1577354,nssv1563593 M 6533 0 13 "" IS31390,IS34416,IS35691,IS37043,IS40677,IS40812,IS41433,MS11031,MS15984,MS21017,MS25303,MS25853,MS26121 nsv876282 3 1 186745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499747 S 6533 1 0 "" SP50134 esv22907 3 35025 38479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19613 S 451 0 1 "" NA18909 dgv583n27 3 38411 101158 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460292,nsv460291,nsv460290 M 1557 3 0 "" 1780854439_A,1780862577_A,1798860567_A nsv516303 3 38411 108412 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667429,nssv669536,nssv669359 M 2026 3 0 "" dgv584n27 3 38411 160281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460296,nsv460300,nsv460293 M 1557 0 3 "" HGDP00096,HGDP00183,HGDP00208 nsv469898 3 38411 903456 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544364 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHL1 HGDP00951 nsv526340 3 38411 2321860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702632 S 2026 0 1 CHL1,CNTN4,CNTN6 esv2752007 3 41866 192644 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983397,essv6983398,essv6983399,essv6986424 M 771 1 0 "" BEC_647 nsv876283 3 41894 108412 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537192 S 6533 1 0 "" MS13095 nsv428412 3 46141 343409 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454209 S 62 1 0 CHL1 NA19113 essv21464 3 46156 218278 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CHL1 NA12717 dgv1424e1 3 46156 343409 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16397,essv5528,essv10030,essv21860,essv16980,essv21218,essv22884,essv20096,essv14762,essv23061,essv17578,essv18245,essv19256,essv10324 M 271 0 0 CHL1 NA07048,NA10838,NA10846,NA11830,NA11839,NA12760,NA12762,NA12812,NA18506,NA18529,NA19099,NA19139,NA19144,NA19159 dgv1425e1 3 46156 518322 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5292,essv19975 M 271 0 0 CHL1 NA12813,NA18624 dgv1426e1 3 46156 773503 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21030,esv612 M 271 0 0 CHL1 NA06991 esv2752009 3 48603 102933 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983483,essv6983484 M 771 1 0 "" BEC_660 dgv585n27 3 57010 102677 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460299,nsv460297,nsv460298 M 1557 3 0 "" 1780862160_A,HGDP00900,NINDS_29 essv18900 3 61204 102933 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12717 nsv524041 3 70597 146308 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699905 S 2026 1 0 "" nsv460301 3 70973 149514 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536902 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00909 nsv876284 3 70973 1118424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522147 S 6533 0 1 CHL1,CNTN6 SP52751 nsv436750 3 71652 72336 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465979 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv470438 3 89133 176998 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546586,nssv545475 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00459,HGDP01090 dgv586n27 3 89133 186745 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460303,nsv460302 M 1557 2 0 "" HGDP00459,HGDP01090 nsv10236 3 148712 157779 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28754,nssv29205,nssv11918,nssv12563,nssv29106,nssv11817,nssv28755,nssv29031,nssv12533,nssv29188,nssv11811,nssv28904,nssv28141 M 31 2 11 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740,NA12872,NA18563,NA18564,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19240 nsv513028 3 150229 153577 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626509 S 1 0 1 "" 1 esv2488817 3 150492 152637 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350068 S 1 0 1 "" NA18507 esv2317995 3 150808 151213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621807 S 1 0 1 "" NA18507 esv22365 3 150899 152318 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17436 S 451 2 0 "" NA18508,NA19240 nsv821111 3 150899 152318 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420302 S 1 0 1 "" NA10851 dgv5071n71 3 157674 233123 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876286,nsv876285 M 6533 3 0 CHL1 IS33136,IS33576,IS35581 nsv460304 3 160281 228952 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536905 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHL1 HGDP00140 nsv521040 3 163865 196081 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680470,nssv691425,nssv701024 M 2026 1 2 "" esv2751984 3 184745 270654 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985784,essv6985785,essv6985786,essv6988985 M 771 1 0 CHL1 SPC_47 esv32868 3 195478 212932 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93795,essv94339,essv95330,essv95892,essv92922,essv93619,essv96171,essv97159,essv93240,essv99684,essv94848,essv98096,essv99218,essv100369,essv99500,essv96352,essv94290 M 51 0 17 "" 21634,21808,21872,21911,21939,21972,22007,22075,22170,22217,22231,22259,22275,22300,22335,22371,22394 essv6865 3 196081 211759 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18558 nsv3670 3 197480 223778 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4593,nssv10332,nssv2385 M 9 0 3 CHL1 NA12878,NA18555,NA18956 nsv508206 3 199707 219965 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617472,nssv618709 M 4 0 2 CHL1 CHM,NA10860 nsv511220 3 201067 209726 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626776 S 1 0 1 "" 1 nsv876287 3 201067 1056998 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520443 S 6533 1 0 CHL1 SP51065 nsv821944 3 202319 209269 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431928 S 31 1 0 "" AK20 nsv10237 3 202918 209779 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29011,nssv29218,nssv11893,nssv29070,nssv11712,nssv11609,nssv28519,nssv28637,nssv29061,nssv11841,nssv28191,nssv28611,nssv11948,nssv28704,nssv28804,nssv28655 M 31 15 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12872,NA18502,NA18504,NA18537,NA18853,NA18860,NA18975,NA19144,NA19173,NA19240 nsv821945 3 203191 209689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436471,nssv1431192,nssv1438050,nssv1422489,nssv1425624,nssv1438705,nssv1426524,nssv1424075,nssv1433543,nssv1438763,nssv1437334,nssv1423256,nssv1430462,nssv1434974,nssv1440245 M 31 0 15 "" AK16,AK18,AK4,AK6,NA18526,NA18542,NA18547,NA18552,NA18564,NA18582,NA18942,NA18949,NA18951,NA18973,NA18999 nsv513029 3 203414 209442 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626511 S 1 0 1 "" 1 esv29546 3 203631 209368 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19450 S 451 24 4 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820563 3 203678 209689 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420304 S 1 0 1 "" NA10851 nsv498990 3 203771 209409 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585851 S 9 0 1 "" nsv237676 3 203772 209404 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256254 M 24 "" nsv819956 3 204643 209381 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419657 S 2 0 1 "" AK1 esv2422031 3 205022 207800 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121397,essv5046679,essv5134616,essv5049748,essv5103787,essv5028725,essv5153984,essv5150369,essv5134942,essv5003775,essv5125351,essv5113070,essv5125353,essv5042789,essv5029853,essv5073086,essv5075076,essv5015074,essv5056175,essv5097825,essv5047099,essv5066326,essv5042038,essv5125927,essv5094311,essv5004285,essv5049050,essv5008961,essv5111316,essv5037384,essv5019109,essv5147758,essv5085835,essv5093621,essv5030244,essv5145907,essv5100267,essv5147655,essv5077088,essv5034488,essv5043651,essv5118489,essv5151035,essv5084511,essv5072132,essv5122983,essv5104755,essv5053461,essv5113791,essv5011003,essv5013773,essv5127353,essv5080774,essv5027950,essv5110592,essv5122806,essv5005158,essv5066812,essv5140535,essv5075422,essv5132472,essv5009808,essv5160502,essv5128995,essv5116609,essv5043043,essv5026653,essv5038891,essv5115957,essv5040683,essv5014383,essv5040938,essv5057734,essv5139723,essv5101201,essv5096430,essv5071513,essv5098158,essv5145619,essv5075681,essv5152792,essv5042437,essv5142535,essv5025905,essv5152472,essv5020001,essv5013139,essv5155392,essv5054114,essv5141090,essv5125564,essv5123634,essv5082907,essv5052964,essv5079874,essv5005143,essv5018306,essv5006698,essv5021586,essv5133969,essv5115930,essv5054382,essv5146935,essv5002878,essv5004857,essv5138431,essv5020581,essv5022927,essv5053026,essv5036298,essv5104751,essv5144155,essv5071926,essv5081982,essv5038428,essv5030332,essv5073131,essv5042951,essv5009120,essv5079082,essv5132431,essv5098724,essv5019525,essv5121731,essv5105633,essv5101861,essv5002431,essv5062618,essv5125932,essv5152342,essv5068280,essv5115637,essv5092500,essv5148420,essv5040705,essv5100009,essv5015883,essv5095154,essv5033180,essv5010888,essv5107020,essv5133139,essv5041881,essv5015180,essv5144112,essv5110548,essv5134514,essv5125018,essv5040619,essv5129246,essv5020226,essv5131971,essv5043260,essv5154490,essv5133390,essv5141745,essv5029307,essv5139839,essv5130329,essv5062300,essv5064242,essv5099340,essv5102435,essv5135580,essv5069073,essv5064164,essv5021443,essv5035141,essv5035316,essv5002260,essv5072207,essv5033544,essv5028323,essv5107484,essv5049096,essv5118696,essv5066832,essv5031565,essv5076351,essv5002598,essv5062748,essv5144545,essv5034292,essv5075206,essv5098627,essv5026217,essv5158247,essv5029401,essv5077294,essv5147353,essv5018819,essv5144797,essv5121428,essv5123550,essv5115677,essv5089069,essv5100511,essv5025283,essv5058966,essv5064739,essv5149567,essv5152156,essv5109918,essv5079506,essv5063437,essv5159216,essv5016447,essv5007597,essv5143025,essv5015057,essv5106983,essv5089548,essv5072681,essv5062915,essv5012903,essv5097810,essv5034557,essv5117334,essv5067899,essv5086700,essv5011999,essv5157253,essv5057825,essv5014340,essv5081027,essv5087866,essv5105904,essv5024031,essv5032303,essv5025184,essv5112677,essv5093615,essv5143314,essv5148309,essv5064546,essv5045320,essv5155177,essv5032564,essv5115396,essv5017101,essv5108323,essv5099403,essv5106304,essv5060702,essv5008690,essv5118086,essv5123940,essv5002202,essv5056356,essv5043301,essv5082640,essv5087098,essv5081566,essv5026216,essv5134353,essv5119623,essv5006866,essv5048799,essv5114077,essv5059379,essv5087115,essv5105101,essv5104048,essv5065616,essv5139526,essv5087121,essv5152500,essv5115040,essv5102836,essv5026748,essv5068287,essv5128041,essv5056443,essv5073906,essv5160083,essv5055824,essv5133944,essv5004256,essv5079452,essv5023532,essv5061380,essv5056935,essv5073168,essv5012427,essv5007461,essv5022403,essv5102347,essv5059148,essv5133766,essv5063975,essv5094713,essv5155914,essv5142813,essv5008153,essv5159201,essv5069447,essv5065836,essv5036897,essv5082391,essv5156613,essv5010439,essv5157719,essv5056007,essv5077074,essv5043842,essv5054882,essv5024689,essv5032461,essv5109078,essv5029034,essv5042890,essv5017786,essv5008709,essv5053602,essv5116322,essv5111005,essv5017150,essv5098636,essv5109640,essv5161199,essv5104234,essv5089511,essv5131466,essv5074147,essv5131581,essv5147011,essv5147800,essv5128105,essv5135152,essv5091364,essv5045772,essv5107780,essv5150579,essv5129141,essv5134863,essv5154005,essv5060012,essv5141136,essv5131084,essv5060131,essv5041863,essv5142042,essv5142406,essv5101037,essv5042491,essv5061360,essv5145927,essv5029698,essv5153132,essv5021629,essv5119981,essv5142048,essv5096035,essv5004720,essv5003176,essv5160496,essv5002100,essv5139255,essv5020427,essv5026898,essv5025594,essv5032003,essv5126970,essv5087369,essv5059517,essv5141607,essv5158017,essv5097600,essv5136444,essv5099590,essv5006262,essv5121049,essv5086021,essv5144398,essv5124115,essv5003846,essv5138854,essv5028012,essv5093207,essv5154739,essv5019385,essv5101950,essv5008510,essv5056156,essv5155468,essv5129374,essv5144504,essv5033759,essv5123978,essv5106231,essv5100283,essv5027332,essv5145745,essv5071346,essv5017583,essv5123722,essv5029446,essv5153371,essv5018323,essv5020368,essv5046032,essv5068486,essv5033558,essv5125943,essv5080059,essv5093195,essv5147909,essv5035077,essv5074303,essv5092051,essv5085545,essv5107639,essv5067049,essv5086387,essv5011194,essv5150962,essv5109384,essv5140559,essv5090528,essv5030713,essv5143645,essv5068614,essv5079901,essv5139860,essv5116023,essv5102683,essv5016371,essv5160403,essv5069281,essv5024286,essv5150985,essv5055757,essv5011567,essv5042877,essv5155500,essv5014793,essv5068815,essv5032842,essv5124983,essv5019742,essv5023402,essv5072527,essv5056364,essv5075693,essv5102232,essv5133628,essv5108543,essv5121350,essv5115970,essv5038654,essv5005661,essv5052627,essv5114206,essv5012541,essv5102111,essv5107825,essv5112419,essv5024380,essv5012959,essv5042886,essv5026177,essv5003114,essv5048686,essv5114746,essv5116685,essv5004758,essv5151416,essv5052625,essv5052075,essv5157249,essv5043772,essv5130521,essv5117103,essv5058633,essv5067306,essv5148740,essv5037177,essv5042259,essv5155028,essv5009543,essv5131230,essv5142732,essv5006189,essv5156716,essv5110257,essv5051297,essv5052101,essv5115773,essv5117010,essv5151901,essv5072100,essv5137836,essv5099214,essv5058627,essv5115659,essv5072123,essv5013331,essv5097080,essv5008615,essv5058270,essv5075900,essv5032127,essv5013505,essv5057359,essv5081636,essv5110223,essv5020216,essv5025887,essv5145670,essv5036185,essv5148470,essv5152135,essv5123966,essv5020915,essv5088301,essv5105576,essv5042382,essv5023285,essv5021348,essv5122160,essv5011022,essv5121842,essv5129507,essv5135738,essv5137816,essv5006046,essv5039176,essv5004162,essv5125495,essv5061692,essv5117270,essv5149273,essv5117572,essv5123319,essv5080990,essv5009905,essv5160982,essv5122355,essv5092804,essv5120057,essv5133665,essv5015047,essv5052311,essv5034586,essv5144210,essv5011669,essv5092509,essv5089390,essv5010773,essv5108510,essv5073503,essv5034713,essv5069817,essv5082865,essv5062193,essv5149333,essv5050271,essv5023085,essv5056759,essv5011283 M 1184 0 560 "" NA06984,NA06986,NA06994,NA07000,NA07022,NA07029,NA07055,NA07056,NA07345,NA07348,NA07357,NA10847,NA10850,NA10854,NA10865,NA11829,NA11840,NA11882,NA11891,NA11917,NA11919,NA11993,NA11995,NA12043,NA12044,NA12045,NA12056,NA12144,NA12145,NA12154,NA12234,NA12239,NA12275,NA12282,NA12283,NA12340,NA12348,NA12413,NA12708,NA12718,NA12739,NA12740,NA12748,NA12750,NA12753,NA12763,NA12767,NA12778,NA12802,NA12815,NA12818,NA12828,NA12830,NA12865,NA12873,NA12875,NA12878,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17970,NA17974,NA17975,NA17979,NA17980,NA17983,NA17987,NA17990,NA17993,NA17997,NA17998,NA17999,NA18101,NA18102,NA18106,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18134,NA18140,NA18143,NA18144,NA18146,NA18149,NA18150,NA18153,NA18155,NA18156,NA18159,NA18161,NA18162,NA18166,NA18485,NA18488,NA18489,NA18497,NA18498,NA18499,NA18509,NA18510,NA18515,NA18516,NA18517,NA18520,NA18526,NA18532,NA18534,NA18536,NA18542,NA18543,NA18545,NA18548,NA18550,NA18552,NA18555,NA18557,NA18563,NA18564,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18593,NA18594,NA18595,NA18596,NA18599,NA18602,NA18609,NA18611,NA18612,NA18614,NA18616,NA18617,NA18622,NA18623,NA18626,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18639,NA18640,NA18647,NA18670,NA18674,NA18682,NA18685,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18855,NA18857,NA18859,NA18861,NA18867,NA18869,NA18871,NA18872,NA18873,NA18875,NA18909,NA18910,NA18911,NA18913,NA18916,NA18933,NA18939,NA18942,NA18943,NA18945,NA18946,NA18948,NA18949,NA18951,NA18953,NA18955,NA18956,NA18957,NA18961,NA18963,NA18964,NA18965,NA18967,NA18969,NA18971,NA18972,NA18973,NA18979,NA18980,NA18987,NA18994,NA18995,NA18998,NA18999,NA19000,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19036,NA19041,NA19055,NA19057,NA19058,NA19059,NA19060,NA19062,NA19064,NA19065,NA19070,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19084,NA19085,NA19087,NA19088,NA19095,NA19096,NA19097,NA19108,NA19109,NA19118,NA19130,NA19131,NA19132,NA19138,NA19140,NA19142,NA19146,NA19149,NA19150,NA19152,NA19159,NA19161,NA19174,NA19175,NA19176,NA19178,NA19180,NA19185,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19202,NA19209,NA19211,NA19221,NA19222,NA19236,NA19247,NA19248,NA19249,NA19311,NA19317,NA19319,NA19360,NA19371,NA19373,NA19377,NA19380,NA19381,NA19383,NA19398,NA19403,NA19404,NA19428,NA19429,NA19430,NA19436,NA19440,NA19443,NA19444,NA19445,NA19446,NA19451,NA19463,NA19470,NA19474,NA19625,NA19651,NA19652,NA19653,NA19660,NA19663,NA19669,NA19678,NA19679,NA19684,NA19700,NA19702,NA19708,NA19711,NA19712,NA19713,NA19714,NA19723,NA19724,NA19725,NA19727,NA19746,NA19747,NA19748,NA19750,NA19751,NA19755,NA19757,NA19761,NA19763,NA19770,NA19774,NA19775,NA19779,NA19780,NA19789,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19835,NA19836,NA19900,NA19904,NA19908,NA19915,NA19916,NA19917,NA19918,NA19919,NA19983,NA19985,NA20129,NA20282,NA20284,NA20287,NA20288,NA20294,NA20300,NA20301,NA20302,NA20317,NA20319,NA20337,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20359,NA20360,NA20363,NA20504,NA20509,NA20515,NA20518,NA20520,NA20525,NA20528,NA20535,NA20543,NA20589,NA20753,NA20754,NA20755,NA20759,NA20760,NA20768,NA20769,NA20771,NA20772,NA20774,NA20775,NA20778,NA20785,NA20786,NA20790,NA20792,NA20796,NA20800,NA20801,NA20803,NA20804,NA20805,NA20809,NA20815,NA20819,NA20826,NA20845,NA20847,NA20849,NA20851,NA20853,NA20854,NA20858,NA20862,NA20866,NA20869,NA20873,NA20875,NA20881,NA20882,NA20883,NA20885,NA20888,NA20889,NA20891,NA20894,NA20895,NA20897,NA20900,NA20901,NA20902,NA20904,NA20907,NA20908,NA20909,NA20910,NA21086,NA21089,NA21090,NA21097,NA21099,NA21101,NA21102,NA21105,NA21106,NA21108,NA21109,NA21111,NA21112,NA21115,NA21116,NA21118,NA21119,NA21125,NA21137,NA21301,NA21307,NA21309,NA21311,NA21312,NA21316,NA21317,NA21318,NA21333,NA21336,NA21339,NA21353,NA21355,NA21359,NA21361,NA21363,NA21365,NA21366,NA21367,NA21370,NA21371,NA21379,NA21384,NA21386,NA21387,NA21388,NA21390,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21417,NA21434,NA21435,NA21436,NA21438,NA21451,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21486,NA21489,NA21490,NA21513,NA21517,NA21520,NA21524,NA21576,NA21582,NA21596,NA21597,NA21599,NA21608,NA21611,NA21613,NA21614,NA21617,NA21619,NA21635,NA21636,NA21648,NA21650,NA21678,NA21683,NA21686,NA21689,NA21716,NA21718,NA21733,NA21739,NA21741,NA21776,NA21825,NA21826 nsv442850 3 205022 207800 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv786n67 3 205723 209269 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821946,nsv821947 M 31 0 3 "" AK14,AK2,NA18969 nsv514129 3 205922 209128 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627475 S 1414 0 1 "" nsv876288 3 211759 233123 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594341 S 6533 1 0 CHL1 IS39785 nsv876289 3 211759 285747 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519609 S 6533 1 0 CHL1 SP50080 dgv266n21 3 216572 219949 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526215,nsv519754 M 2026 0 5 CHL1 dgv267n21 3 244035 245521 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520115,nsv526216 M 2026 0 2 CHL1 nsv460305 3 245521 292145 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536906 S 1557 0 1 CHL1 NINDS_208 nsv834589 3 252188 412186 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442653 S 95 1 0 CHL1 nsv876290 3 258176 295201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524596 S 6533 0 1 CHL1 SP55117 nsv460307 3 262419 286851 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536908 S 1557 0 1 CHL1 1780862576_A esv2271283 3 278419 279245 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587437 S 1 0 1 CHL1 NA18507 esv26398 3 278487 279225 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16607 S 451 0 25 CHL1 NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12239,NA12287,NA12414,NA12749,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv876291 3 279087 312727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548513 S 6533 1 0 CHL1 MS17878 nsv10238 3 288509 301846 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11954 S 31 1 0 Samples from several populations that are part of the HapMap project. CHL1 NA18517 esv24432 3 288663 301550 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21279 S 451 1 0 CHL1 NA18517 nsv818121 3 289538 300410 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416428,nssv1416429 M 112 2 0 CHL1 NA18515,NA18517 nsv433357 3 291417 301099 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463238 S 9 1 0 Samples from several populations that are part of the HapMap project. CHL1 NA18517 nsv3671 3 296589 319043 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9378 S 9 1 0 CHL1 NA18517 esv1945808 3 304225 306621 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509040 S 1 0 1 CHL1 NA18507 nsv3672 3 306254 351000 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7763 S 9 0 1 CHL1 NA12156 dgv5072n71 3 379658 405682 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876292,nsv876293 M 6533 2 0 CHL1 MS11252,MS17878 nsv876294 3 379658 440476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544043 S 6533 1 0 CHL1 MS16213 nsv876295 3 415028 491255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535236,nssv1545448,nssv1550329 M 6533 0 3 CHL1 MS12092,MS16796,MS18407 esv1044198 3 456983 456983 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734404 S 2 1 0 "" HuRef dgv1427e1 3 458675 773503 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15335,essv17562 M 271 0 0 "" NA12762,NA18862 nsv469792 3 458723 609438 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649813 M 265 0 0 Samples from several populations that are part of the HapMap project. "" esv2613871 3 467655 469057 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326797 S 1 0 1 "" NA18507 nsv876296 3 472892 1309530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526007 S 6533 1 0 CNTN6 SP56936 nsv876297 3 491255 572064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559691,nssv1600211,nssv1596168,nssv1597735,nssv1576211,nssv1563740,nssv1580312,nssv1599991,nssv1594019,nssv1569746,nssv1587696,nssv1586341,nssv1591261 M 6533 0 13 "" IS30063,IS31703,IS33959,IS35270,IS37744,IS38099,IS38665,IS39666,IS40429,IS41192,IS41826,IS41860,MS24098 esv2445172 3 498947 500532 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185290 S 1 0 1 "" NA18507 esv1046717 3 500030 500208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658655 S 2 0 1 "" HuRef nsv834590 3 501216 678999 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442654,nssv1442655 M 95 2 0 "" esv28357 3 503304 509054 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20192 S 451 4 0 "" NA12006,NA12828,NA19147,NA19257 nsv523139 3 529312 540961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698846 S 2026 0 1 "" dgv268n21 3 531800 1325458 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527054,nsv525119 M 2026 2 0 CNTN6 esv1559399 3 536864 536864 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797170 S 2 1 0 "" HuRef esv1164951 3 536898 536898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307206 S 2 1 0 "" HuRef dgv5073n71 3 585577 878380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876298,nsv876301,nsv876300,nsv876299 M 6533 0 4 "" IS31207,IS32727,IS40571,IS41908 nsv10240 3 586921 638701 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11984,nssv12593,nssv27922,nssv28241,nssv11978,nssv28744,nssv11847 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA12155,NA12802,NA12872,NA18517,NA18537,NA18972,NA19132 esv29072 3 586991 638369 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20989 S 451 2 4 "" NA12156,NA12239,NA12489,NA18508,NA18517,NA18858 nsv820383 3 586991 638369 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420305 S 1 1 0 "" NA10851 esv1008157 3 587479 638951 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586409 S 3 1 0 "" HuRef esv7807 3 589970 591173 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30248 S 1 0 1 "" SJK esv32712 3 590419 635537 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101019,essv93679,essv98381 M 51 0 3 "" 21693,21972,22352 esv2005965 3 598999 599360 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671263 S 1 0 1 "" NA18507 esv2064722 3 608281 608703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715160 S 1 0 1 "" NA18507 esv2490645 3 608351 609865 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267354 S 1 0 1 "" NA18507 nsv876302 3 619290 1179591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582195 S 6533 1 0 CNTN6 IS35833 nsv236720 3 632412 633403 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255298 M 24 "" nsv834592 3 636172 795419 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442656 S 95 1 0 "" dgv111n6 3 636711 637032 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237988,nsv236700 M 24 "" esv9085 3 636724 637015 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31526 S 1 0 1 "" SJK esv25839 3 648249 649263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14135 S 451 0 1 "" NA19129 nsv470549 3 678406 698937 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547134 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00825 nsv524339 3 682654 691885 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700246 S 2026 1 0 "" nsv460310 3 685880 775548 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536909 S 1557 0 1 "" 1782681236_A nsv876303 3 685880 965754 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564889 S 6533 1 0 "" IS30311 nsv876304 3 697279 742461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507716 S 6533 0 1 "" SP54579 nsv876305 3 717786 762770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519233 S 6533 0 1 "" SP80988 esv2573343 3 728124 729583 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253244 S 1 0 1 "" NA18507 nsv527267 3 730370 1118424 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703675 S 2026 1 0 CNTN6 nsv527325 3 775548 812481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703750 S 2026 0 1 "" nsv524653 3 784720 784878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700620 S 2026 0 1 "" nsv876306 3 809393 947059 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525869 S 6533 1 0 "" SP56852 nsv517343 3 823898 1403635 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672083,nssv695189,nssv702191,nssv687451,nssv671856,nssv672931,nssv692282,nssv693169,nssv677924,nssv705320,nssv664739,nssv675641,nssv662170,nssv684338,nssv655184,nssv683896,nssv704994,nssv662329,nssv680517,nssv675797,nssv676753,nssv657747,nssv660938,nssv691737,nssv675545,nssv651784,nssv693695,nssv680980,nssv653211,nssv674906,nssv678732,nssv690407,nssv674568,nssv697376 M 2026 3 31 CNTN6 esv992498 3 825389 837041 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564503 S 3 0 1 "" HuRef dgv5074n71 3 840779 1118424 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876309,nsv876307 M 6533 2 0 CNTN6 IS34680,SP53596 dgv5075n71 3 862085 965754 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876310,nsv876308 M 6533 2 0 "" MS17878,SP52359 esv21886 3 874190 878107 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21146 S 451 1 1 "" NA11995,NA18858 esv2493109 3 892842 893693 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161946 S 1 1 0 "" NA18507 esv1008826 3 893249 893421 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576503 S 3 0 1 "" HuRef esv1711795 3 893423 893423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774378 S 2 1 0 "" HuRef nsv508207 3 894772 961997 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622451 S 4 0 1 "" NA18994 nsv876311 3 895346 1275820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512451 S 6533 1 0 CNTN6 SP55514 esv2398787 3 898262 898669 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658513 S 1 0 1 "" NA18507 dgv5076n71 3 903456 1010196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876315,nsv876312 M 6533 0 2 "" IS40890,MS23531 esv33501 3 915435 1251928 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100180 S 51 1 0 CNTN6 22286 esv2422404 3 915869 1423517 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161522 S 181 1 0 CNTN6 ND03627 nsv876313 3 916639 973513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564120 S 6533 0 1 "" IS30171 dgv5077n71 3 916639 1042033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876316,nsv876314 M 6533 0 2 "" IS38209,IS41964 nsv513030 3 957302 958826 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626512 S 1 0 1 "" 1 esv2418540 3 957424 958100 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855510 S 1 0 1 "" NA18507 esv8504 3 957574 957927 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30945 S 1 0 1 "" SJK esv2422485 3 959214 1628443 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161381 S 181 1 0 CNTN6 ND05154 esv29689 3 965695 971780 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11514 S 451 0 1 "" NA18502 esv2421766 3 965754 971718 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152018,essv5054049,essv5006297,essv5071036,essv5110308,essv5043283,essv5147378,essv5071517,essv5154746,essv5055040,essv5043442,essv5021562,essv5082527,essv5041407,essv5101114,essv5104668,essv5108596,essv5011973,essv5061199,essv5084877,essv5070019,essv5115234,essv5111507,essv5145861,essv5053859 M 1184 0 25 "" NA18500,NA18917,NA19376,NA19380,NA19396,NA19397,NA19431,NA19436,NA19455,NA19456,NA19472,NA20287,NA20288,NA21355,NA21357,NA21399,NA21401,NA21402,NA21404,NA21405,NA21509,NA21523,NA21578,NA21693,NA21733 esv1028276 3 977949 978177 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285330 S 2 0 1 "" HuRef nsv437317 3 1005428 1015539 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467198 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv2500600 3 1006868 1007898 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367554 S 1 1 0 "" NA18507 nsv10241 3 1006948 1042685 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12480 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv1710424 3 1007409 1007409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162498 S 2 1 0 "" HuRef esv25301 3 1007760 1014425 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18260 S 451 0 2 "" NA18907,NA18909 nsv441807 3 1009997 1014189 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514130 3 1010204 1014092 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627486 S 1414 0 0 "" esv23025 3 1019155 1021237 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20140 S 451 0 2 "" NA18907,NA18909 dgv5078n71 3 1025587 1129559 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876317,nsv876318 M 6533 3 0 CNTN6 MS13359,MS14835,MS15767 nsv876319 3 1081163 1225310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535482 S 6533 0 1 CNTN6 MS12244 nsv876320 3 1081163 1309530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523051 S 6533 1 0 CNTN6 SP53596 nsv876321 3 1100605 1118424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505661 S 6533 0 1 CNTN6 SP53821 nsv460311 3 1118424 1725536 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536910 S 1557 1 0 CNTN6 NINDS_260 nsv876322 3 1120249 1167619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519476 S 6533 1 0 CNTN6 SP81047 nsv460312 3 1122201 2183832 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536911 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN4,CNTN6 HGDP01374 nsv876323 3 1129559 1179591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522734 S 6533 0 1 CNTN6 SP53407 nsv460313 3 1129559 1510741 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536912 S 1557 1 0 CNTN6 NINDS_147 nsv876324 3 1137041 1166638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548516 S 6533 1 0 CNTN6 MS17878 nsv876325 3 1139339 1172281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560525 S 6533 0 1 CNTN6 MS24528 nsv834593 3 1142433 1310573 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442657 S 95 0 1 CNTN6 nsv527266 3 1145794 1448261 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703674 S 2026 1 0 CNTN6 nsv876326 3 1153831 1248621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576358 S 6533 1 0 CNTN6 IS34025 nsv876327 3 1189847 1205424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519477 S 6533 1 0 CNTN6 SP81047 nsv876328 3 1197180 1264346 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582196 S 6533 1 0 CNTN6 IS35833 essv22021 3 1222123 1302426 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN6 NA12815 esv675 3 1222123 1563919 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 CNTN6 esv34599 3 1242186 1306975 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979024,essv6979025,essv6979026,essv6986775,essv6986774 M 771 1 0 CNTN6 NA12815 essv21142 3 1244095 1420317 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN6 NA12815 nsv834594 3 1244128 1412999 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442658 S 95 0 1 CNTN6 nsv876329 3 1249753 1317013 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519478 S 6533 1 0 CNTN6 SP81047 nsv876330 3 1251092 1275820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552582 S 6533 0 1 CNTN6 MS19503 esv1669273 3 1261148 1261212 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4229511 S 2 0 1 CNTN6 HuRef nsv876331 3 1281926 1383344 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512452 S 6533 1 0 CNTN6 SP55514 nsv876332 3 1281926 1591971 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545972 S 6533 1 0 CNTN6 MS17085 nsv10242 3 1282730 1284641 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12008,nssv28792,nssv28834 M 31 0 3 Samples from several populations that are part of the HapMap project. CNTN6 NA11830,NA12155,NA18980 nsv876333 3 1292869 1317013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577820 S 6533 0 1 CNTN6 IS34573 nsv470660 3 1317013 1331305 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547245 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN6 HGDP00629 nsv10243 3 1317099 1345034 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12510 S 31 0 1 Samples from several populations that are part of the HapMap project. CNTN6 NA19221 nsv237313 3 1317739 1320968 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255891 M 24 CNTN6 nsv876334 3 1320563 1421143 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523052 S 6533 1 0 CNTN6 SP53596 nsv876335 3 1325458 1466953 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548517 S 6533 1 0 CNTN6 MS17878 essv13365 3 1338740 1343476 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN6 NA19159 essv13232 3 1338740 1346260 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN6 NA19131 esv2484315 3 1340142 1342563 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245900 S 1 0 1 CNTN6 NA18507 esv2179526 3 1340372 1341896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550307 S 1 0 1 CNTN6 NA18507 esv2614118 3 1340553 1342553 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341369 S 1 0 1 CNTN6 NA18507 esv27779 3 1340610 1342199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17080 S 451 0 6 CNTN6 NA18502,NA18505,NA18858,NA18907,NA18916,NA19225 nsv460315 3 1341846 1507531 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536913 S 1557 1 0 CNTN6 1780862443_A nsv876336 3 1372373 1652400 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578591 S 6533 0 1 CNTN6 IS34809 nsv834595 3 1379689 1520051 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442659 S 95 0 1 CNTN6 essv7266 3 1379689 1563295 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTN6 NA18592 nsv876337 3 1400168 1448261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589689 S 6533 0 1 CNTN6 IS38399 nsv876338 3 1403635 1551741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547786 S 6533 1 0 CNTN6 MS17554 nsv876339 3 1428696 1517298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535457,nssv1562708,nssv1540559 M 6533 0 3 "" MS12212,MS14918,MS25703 nsv876340 3 1449128 1715624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519479 S 6533 1 0 "" SP81047 nsv821948 3 1449361 1577021 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441073 S 31 1 0 "" NA18592 esv34639 3 1450475 1576830 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979642,essv6979643,essv6979644,essv6986916,essv6986917 M 771 1 0 "" NA18592 essv6437 3 1455555 1563919 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18592 nsv834596 3 1471130 1652484 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442660 S 95 0 1 "" nsv876341 3 1497078 1551741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536256 S 6533 1 0 "" MS12662 nsv876342 3 1497078 1588281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516554 S 6533 0 1 "" SP56861 nsv876343 3 1541020 2175851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564890 S 6533 1 0 CNTN4 IS30311 nsv834597 3 1578471 1766562 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442661 S 95 0 1 "" nsv876344 3 1580071 1666064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507935 S 6533 1 0 "" SP54636 nsv508136 3 1584892 1590892 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622019 S 4 0 1 "" NA10860 nsv523025 3 1597362 1630984 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698705 S 2026 1 0 "" esv2298443 3 1604294 1604675 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698824 S 1 0 1 "" NA18507 esv2580425 3 1604484 1604542 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295183 S 1 0 1 "" NA18507 esv1127466 3 1604484 1604543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990936 S 2 0 1 "" HuRef dgv269n21 3 1627741 1729872 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524081,nsv525907 M 2026 0 2 "" esv23534 3 1654824 1656111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15147 S 451 0 14 "" NA07045,NA11894,NA11931,NA11995,NA12044,NA12239,NA12287,NA12414,NA12489,NA15510,NA18858,NA18916,NA19129,NA19225 nsv820914 3 1654824 1656276 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420306 S 1 0 1 "" NA10851 esv1002771 3 1655609 1655804 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571961 S 3 0 1 "" HuRef esv1061680 3 1655660 1655856 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259915 S 2 0 1 "" HuRef nsv442851 3 1658250 1666567 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421370 3 1658250 1667530 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138120,essv5141677,essv5053046,essv5131222,essv5116860,essv5126891,essv5055025,essv5028243,essv5018216,essv5052049,essv5090884,essv5098915,essv5079307,essv5093992,essv5026575,essv5042926,essv5137568,essv5116993,essv5029697,essv5128881,essv5144352,essv5086248,essv5041953 M 1184 0 23 "" NA18108,NA18117,NA18566,NA18576,NA18614,NA18619,NA18637,NA18643,NA18939,NA18945,NA18952,NA18957,NA18962,NA18963,NA18969,NA18973,NA18977,NA18990,NA18994,NA18995,NA18998,NA19005,NA19075 nsv821949 3 1658638 1665856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435760,nssv1438706,nssv1440946,nssv1430464 M 31 0 4 "" AK16,NA18566,NA18969,NA18973 nsv514131 3 1659840 1665715 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627497 S 1414 0 1 "" esv27202 3 1671211 1683090 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18710 S 451 0 1 "" NA12489 nsv525513 3 1679667 1682513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701646 S 2026 0 1 "" dgv5079n71 3 1706173 1764200 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876345,nsv876346,nsv876347,nsv876348 M 6533 0 11 "" IS31971,MS12154,MS13498,MS14010,MS15060,MS17869,MS18466,MS21717,MS22089,MS25451,MS25730 nsv528553 3 1706173 1791980 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705166 S 2026 1 0 "" nsv460319 3 1706173 1796213 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536915 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01278 nsv470771 3 1706173 1796213 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547356 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01278 nsv527543 3 1706848 1733089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704004 S 2026 0 1 "" nsv834598 3 1718910 1884368 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442662 S 95 0 1 "" nsv437318 3 1720013 1747270 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467199 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv512793 3 1724358 1725626 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625426 S 1 1 0 "" 1 nsv523916 3 1725536 1733089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699759 S 2026 0 1 "" nsv517393 3 1730876 1731711 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651948,nssv660976,nssv658503,nssv663546,nssv677324,nssv690242,nssv669713,nssv651889,nssv692946 M 2026 9 0 "" nsv10244 3 1752567 1797300 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11923,nssv12014,nssv28789,nssv28822,nssv11877,nssv29136,nssv28438,nssv29100,nssv29091,nssv28695,nssv11871,nssv11639,nssv12623,nssv29248,nssv29235,nssv28589,nssv28677,nssv12540,nssv28782,nssv29041,nssv28651,nssv28384,nssv28864,nssv12038,nssv28964,nssv28291,nssv11742,nssv28005,nssv28793 M 31 29 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2532675 3 1756420 1757889 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291756 S 1 0 1 "" NA18507 dgv270n21 3 1756739 1764200 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522215,nsv516196,nsv519985 M 2026 0 42 "" esv1974398 3 1756796 1757472 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562502 S 1 0 1 "" NA18507 esv992457 3 1756865 1763599 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565726 S 3 0 1 "" HuRef nsv820474 3 1756882 1763552 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420307 S 1 0 1 "" NA10851 esv29055 3 1756975 1763544 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13167 S 451 38 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820124 3 1757230 1763036 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419735 S 2 1 0 "" AK1 nsv821950 3 1757281 1762382 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438708 S 31 0 1 "" NA18973 nsv514132 3 1757493 1762241 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627508 S 1414 0 1 "" nsv441809 3 1757522 1762585 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421623 3 1757524 1762581 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5160803,essv5055209,essv5148163,essv5105186,essv5022084,essv5153782,essv5135329,essv5129220,essv5104003,essv5128575,essv5152223,essv5073334,essv5144306,essv5096856,essv5128433,essv5088388,essv5058629,essv5073557,essv5002051 M 1184 0 19 "" NA07045,NA07346,NA07435,NA12005,NA12056,NA12275,NA12282,NA12801,NA12813,NA19652,NA19653,NA19676,NA20334,NA20335,NA20540,NA20752,NA20768,NA20807,NA20895 dgv5080n71 3 1783553 1884126 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876350,nsv876349 M 6533 0 2 "" SP54166,SP57673 nsv460320 3 1789351 1878200 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536916 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01249 nsv527960 3 1793056 1956567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704470 S 2026 0 1 "" nsv3673 3 1794246 1827782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7764 S 9 1 0 "" NA12156 dgv5081n71 3 1796213 1881972 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876361,nsv876351 M 6533 2 0 "" IS37687,IS41113 nsv876352 3 1801067 1859441 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563960 S 6533 1 0 "" IS30138 dgv5082n71 3 1801067 1911242 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876363,nsv876360,nsv876354,nsv876358,nsv876353,nsv876355,nsv876357 M 6533 17 0 "" IS30331,IS32312,IS32429,IS32808,IS32990,IS33749,IS34523,IS35072,IS37909,IS38694,IS38979,IS40643,IS40958,IS41195,IS41981,IS41984,MS10381 nsv520133 3 1801892 1907464 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697241 S 2026 1 0 "" nsv876356 3 1802967 1832842 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589436 S 6533 1 0 "" IS38355 nsv876359 3 1802967 2183832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564916 S 6533 1 0 CNTN4 IS30317 nsv876362 3 1818129 1873335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515440 S 6533 0 1 "" SP56197 nsv528999 3 1825547 2103834 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705705 S 2026 1 0 "" nsv460321 3 1825547 2216647 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536917 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN4 HGDP00815 dgv5083n71 3 1832842 2019446 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876364,nsv876365 M 6533 0 2 "" MS16122,SP57599 nsv834599 3 1841954 2043596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442664 S 95 0 1 "" esv2751985 3 1855954 1957593 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984186,essv6989927,essv6989417 M 771 0 1 "" BEC_799 esv1464774 3 1859147 1859147 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169005 S 2 1 0 "" HuRef nsv876366 3 1864450 1907464 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589437 S 6533 1 0 "" IS38355 esv2422325 3 1872571 2830211 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161235 S 181 1 0 CNTN4 ND04675 nsv876367 3 1878200 1921687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583977 S 6533 0 1 "" IS36766 nsv3674 3 1880282 1916775 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1651 S 9 0 1 "" NA19240 nsv514133 3 1888086 1900642 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627519 S 1414 1 0 "" nsv441810 3 1888098 1900851 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28455 3 1888289 1888990 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16639 S 451 2 0 "" NA07037,NA18508 nsv517127 3 1888371 1900851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659578,nssv674690,nssv679282,nssv669305,nssv690018,nssv679087,nssv660629,nssv680091,nssv683086,nssv659838,nssv686602,nssv663900,nssv690454,nssv693502,nssv661207,nssv669159,nssv658679,nssv667006,nssv690455,nssv690940,nssv653828,nssv669456,nssv654644,nssv676327,nssv663487,nssv691118,nssv671236,nssv692809,nssv689290,nssv673683,nssv665539,nssv683626,nssv687453,nssv672740,nssv691917,nssv686768,nssv669755,nssv689071,nssv656548,nssv687031,nssv693414,nssv661281,nssv687298,nssv679646,nssv691877,nssv666134,nssv661231,nssv659225,nssv680938 M 2026 0 49 "" nsv521485 3 1888371 1915922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698096 S 2026 0 1 "" esv28220 3 1892743 1898214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21263 S 451 0 4 "" NA18502,NA18907,NA19108,NA19240 esv2421483 3 1892909 1897965 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5054718,essv5151462,essv5141973,essv5026317,essv5060293,essv5092476,essv5137284,essv5066544,essv5118232,essv5109662,essv5085116,essv5081626,essv5145621,essv5077594,essv5016635,essv5071981,essv5047709,essv5117398,essv5122091,essv5067930,essv5095256,essv5099612,essv5091279,essv5135382,essv5088384,essv5102214,essv5135271,essv5030570,essv5156980,essv5042746,essv5084590,essv5090336,essv5096630,essv5102348,essv5034484,essv5029306,essv5045971,essv5116103,essv5105896,essv5005775,essv5100802,essv5002114,essv5025261,essv5106356,essv5139687,essv5137897,essv5022355,essv5010299,essv5054819,essv5049448,essv5133196,essv5123828,essv5111493,essv5093242,essv5140643,essv5110353,essv5127791,essv5124633,essv5067815,essv5137111,essv5110614,essv5033592,essv5124597,essv5053422,essv5128434,essv5139077,essv5053705,essv5133246,essv5011916,essv5077905,essv5044772,essv5012663,essv5099304,essv5030630,essv5147171,essv5129912,essv5136255,essv5056468,essv5115944,essv5037724 M 1184 0 80 "" NA10850,NA18509,NA18511,NA18518,NA18520,NA18858,NA18910,NA18924,NA19028,NA19035,NA19041,NA19096,NA19097,NA19108,NA19116,NA19120,NA19130,NA19141,NA19142,NA19152,NA19179,NA19180,NA19182,NA19183,NA19207,NA19208,NA19213,NA19221,NA19223,NA19239,NA19240,NA19248,NA19249,NA19307,NA19309,NA19321,NA19347,NA19359,NA19372,NA19374,NA19375,NA19398,NA19404,NA19438,NA19439,NA19449,NA19456,NA19469,NA19470,NA19474,NA19701,NA19708,NA19712,NA19917,NA19982,NA19983,NA20276,NA20297,NA20335,NA20348,NA20356,NA20358,NA20363,NA21336,NA21353,NA21384,NA21387,NA21440,NA21442,NA21453,NA21455,NA21478,NA21479,NA21573,NA21617,NA21619,NA21635,NA21636,NA21678,NA21685 nsv470882 3 1894850 1928413 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547467 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 dgv271n21 3 1900851 1963126 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525979,nsv520367 M 2026 2 0 "" dgv5084n71 3 1901105 1928413 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876369,nsv876370,nsv876372,nsv876368,nsv876373 M 6533 0 13 "" IS38191,SP50144,SP50753,SP52531,SP53563,SP54090,SP54225,SP54812,SP54930,SP56531,SP56794,SP56886,SP58068 nsv876371 3 1901105 1936623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521739 S 6533 0 1 "" SP52568 dgv5085n71 3 1908220 1928413 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876374,nsv876375 M 6533 0 2 "" SP54183,SP57376 nsv515587 3 1911242 1915922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686108,nssv684054,nssv676116,nssv661304,nssv661328,nssv680575,nssv664008,nssv674313,nssv682543,nssv685001,nssv666520,nssv660596,nssv654326,nssv657421,nssv662770,nssv682887,nssv684031,nssv691028,nssv665132,nssv666158,nssv666947,nssv677278,nssv666856,nssv658826,nssv657282,nssv658884 M 2026 0 26 "" nsv876376 3 1911242 1989224 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528990 S 6533 1 0 "" SP81414 esv2421968 3 1911522 1917933 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5157547,essv5148639,essv5114564,essv5160226,essv5122790,essv5088684,essv5115439,essv5110007,essv5047301,essv5120411,essv5062076,essv5049216,essv5116637,essv5067221,essv5002354,essv5101248,essv5096247,essv5092892,essv5078206,essv5050503,essv5066056,essv5126172,essv5037735,essv5037866,essv5119043,essv5120760,essv5156548,essv5103708,essv5052774,essv5078705,essv5078966,essv5144735,essv5047856,essv5051246,essv5121943,essv5160968 M 1184 0 36 "" NA10850,NA18146,NA18154,NA18613,NA18641,NA18757,NA18873,NA18875,NA19181,NA19182,NA19314,NA19318,NA19346,NA19377,NA19379,NA19385,NA19391,NA19396,NA19398,NA19431,NA19436,NA19437,NA19446,NA19448,NA19455,NA19462,NA19625,NA20291,NA20292,NA21384,NA21386,NA21388,NA21438,NA21439,NA21615,NA21634 nsv460322 3 1911522 1928413 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536918 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 esv2422409 3 1917406 2649253 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161470 S 181 0 1 CNTN4 ND05461 nsv519935 3 1936623 1956567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697135 S 2026 0 1 "" dgv5086n71 3 1956567 1986341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876378,nsv876377 M 6533 0 2 "" IS37738,IS39233 nsv876379 3 1964416 1989224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528765 S 6533 0 1 "" SP81356 nsv876380 3 1964416 2000196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521243,nssv1522639 M 6533 0 2 "" SP52313,SP53303 nsv876381 3 1989224 2021410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570480 S 6533 0 1 "" IS32150 nsv834600 3 1995399 2175975 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442665 S 95 0 1 CNTN4 dgv5087n71 3 2000910 2032626 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876382,nsv876383 M 6533 0 2 "" IS31067,IS39716 nsv876384 3 2000910 2913734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561707 S 6533 0 1 CNTN4 MS25193 esv22048 3 2003578 2004063 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12833 S 451 0 2 "" NA18858,NA18916 esv2751990 3 2009415 2397321 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984816,essv6984817,essv6984818,essv6988853,essv6987693 M 771 1 0 CNTN4 SPC_181 nsv523731 3 2034893 2037298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699547 S 2026 0 1 "" nsv460323 3 2046931 2494956 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536919 S 1557 1 0 CNTN4 1780862435_A nsv460324 3 2070542 2761502 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536920 S 1557 0 1 CNTN4 NINDS_129 esv1290137 3 2100806 2100806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355583 S 2 1 0 "" HuRef nsv876385 3 2113078 2512916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545973 S 6533 1 0 CNTN4 MS17085 esv2422274 3 2117080 3331591 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161250 S 181 1 0 CNTN4,CRBN,IL5RA,TRNT1 ND03627 nsv460325 3 2125400 2950573 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536921 S 1557 1 0 CNTN4 NINDS_227 esv271745 3 2146066 2146405 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508759,essv2503302,essv2497301,essv2497177,essv2500034,essv2507891,essv2500157,essv2508446,essv2509981,essv2507541,essv2509370,essv2495973,essv2512799,essv2497064 M 157 14 0 Samples from several populations that are part of the HapMap project. CNTN4 NA18532,NA18542,NA18545,NA18552,NA18558,NA18564,NA18573,NA18582,NA18593,NA18638,NA18953,NA18961,NA18980,NA19190 nsv524378 3 2178765 2451848 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700293 S 2026 1 0 CNTN4 dgv1428e1 3 2181272 2470417 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv707,essv7276,essv6448 M 271 0 0 CNTN4 NA18592 dgv5088n71 3 2183832 2257130 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876388,nsv876387,nsv876386,nsv876390 M 6533 0 13 CNTN4 IS30163,IS30278,IS30653,IS31441,IS31835,IS34996,IS36098,IS37766,IS38334,IS38346,IS38504,IS39009,IS41308 nsv834601 3 2184342 2390404 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442666 S 95 0 1 CNTN4 nsv876389 3 2187318 2239609 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600443 S 6533 1 0 CNTN4 IS41884 esv2751993 3 2187318 2877880 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989289,essv6982176,essv6982175 M 771 0 1 CNTN4 BEC_40 nsv876391 3 2208338 2350705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589391 S 6533 0 1 CNTN4 IS38349 esv2751994 3 2217441 3195570 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984454,essv6984455,essv6984456,essv6984453 M 771 1 0 CNTN4,CRBN,IL5RA,TRNT1 BEC_707 nsv821951 3 2242125 2473177 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441184 S 31 1 0 CNTN4 NA18592 esv34352 3 2249216 2476259 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979645,essv6986918,essv6979646,essv6979647,essv6990391 M 771 1 0 CNTN4 NA18592 nsv470993 3 2284379 2790263 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547578 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTN4 HGDP01396 dgv587n27 3 2284379 2927214 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460327,nsv460330 M 1557 2 0 CNTN4 1780854080_A,HGDP01396 esv2615600 3 2286020 2287560 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202747 S 1 0 1 CNTN4 NA18507 esv2409980 3 2286409 2287114 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892768 S 1 0 1 CNTN4 NA18507 esv3517 3 2286506 2286985 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25958 S 1 0 1 Single Asian sample YH CNTN4 YH esv999364 3 2286587 2286934 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577612 S 3 0 1 CNTN4 HuRef esv1468650 3 2286589 2286937 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258588 S 2 0 1 CNTN4 HuRef esv2297311 3 2304189 2304587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628215 S 1 0 1 CNTN4 NA18507 nsv460329 3 2318040 2332058 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536924 S 1557 1 0 CNTN4 NINDS_91 esv2751996 3 2345877 2600279 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982521,essv6982522,essv6989310 M 771 0 1 CNTN4 BEC_462 nsv834603 3 2370114 2538450 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442667 S 95 0 1 CNTN4 nsv10245 3 2383730 2385935 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12653 S 31 0 1 Samples from several populations that are part of the HapMap project. CNTN4 NA18972 dgv5089n71 3 2397321 2463631 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876392,nsv876393 M 6533 0 2 CNTN4 MS21795,MS25798 nsv821952 3 2402421 2402975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437335 S 31 0 1 CNTN4 NA18949 esv2183952 3 2405827 2406227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942698 S 1 0 1 CNTN4 NA18507 nsv237257 3 2405929 2405989 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255835 M 24 CNTN4 esv1396412 3 2405945 2406006 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090083 S 2 0 1 CNTN4 HuRef nsv876394 3 2424167 2583506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541593 S 6533 1 0 CNTN4 MS15383 nsv876395 3 2469746 2508945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578111 S 6533 1 0 CNTN4 IS34680 esv2607149 3 2470404 2471906 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302152 S 1 0 1 CNTN4 NA18507 esv1208689 3 2470658 2470931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095415 S 2 0 1 CNTN4 HuRef esv23648 3 2470708 2471402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13739 S 451 0 2 CNTN4 NA07037,NA11894 nsv820649 3 2470708 2471402 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420308 S 1 0 1 CNTN4 NA10851 nsv821953 3 2490534 2505051 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441295 S 31 1 0 CNTN4 NA18592 nsv876396 3 2530483 2585327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589854 S 6533 0 1 CNTN4 IS38417 nsv876397 3 2534451 2571726 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534297 S 6533 1 0 CNTN4 MS11525 nsv876398 3 2534451 2644708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578112 S 6533 1 0 CNTN4 IS34680 nsv818122 3 2548148 2548531 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417256,nssv1417193 M 112 0 2 CNTN4 NA18558,NA18593 nsv876399 3 2592404 2644708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558501,nssv1552892 M 6533 0 2 CNTN4 MS19637,MS23295 esv2450966 3 2607811 2609291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209359 S 1 0 1 CNTN4 NA18507 esv2202540 3 2607855 2608544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856017 S 1 0 1 CNTN4 NA18507 esv3368 3 2607970 2608405 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25809 S 1 0 1 Single Asian sample YH CNTN4 YH nsv236276 3 2608027 2608347 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254854 M 24 CNTN4 esv7459 3 2608039 2608350 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29900 S 1 0 1 CNTN4 SJK nsv525486 3 2611747 2622457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701615 S 2026 0 1 CNTN4 nsv876400 3 2665405 2706319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557979 S 6533 0 1 CNTN4 MS23025 nsv821955 3 2712278 2713675 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434299 S 31 1 0 CNTN4 NA18570 esv1537664 3 2722193 2722193 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139859 S 2 1 0 CNTN4 HuRef esv2751998 3 2735197 2868696 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981020,essv6981019,essv6981018,essv6981017 M 771 1 0 CNTN4 BEC_337 esv1541174 3 2762827 2762827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187758 S 2 1 0 CNTN4 HuRef esv999388 3 2762827 2762827 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566178 S 3 1 0 CNTN4 HuRef esv270518 3 2788994 2789361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510986,essv2508523,essv2493486,essv2510800,essv2509777,essv2494832,essv2509004,essv2498374,essv2497768,essv2508320,essv2494432,essv2508709,essv2505710,essv2507068,essv2494025,essv2509331,essv2502382,essv2496006,essv2501272,essv2504620,essv2497051,essv2503675 M 157 22 0 Samples from several populations that are part of the HapMap project. CNTN4 NA06986,NA11831,NA12717,NA12763,NA18501,NA18508,NA18519,NA18522,NA18526,NA18555,NA18561,NA18572,NA18592,NA18861,NA18870,NA18871,NA18909,NA18948,NA18961,NA19093,NA19099,NA19190 nsv876401 3 2790263 2837414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515084 S 6533 0 1 CNTN4 SP56120 esv268078 3 2818307 2818436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511736,essv2493205,essv2493800,essv2497726 M 157 4 0 Samples from several populations that are part of the HapMap project. CNTN4 NA18499,NA18504,NA18517,NA19147 nsv876402 3 2896515 2918790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541784,nssv1544504 M 6533 0 2 CNTN4 MS15491,MS16361 nsv876403 3 2896515 2922575 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548518 S 6533 1 0 CNTN4 MS17878 nsv520139 3 2927214 2930529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681022,nssv661110 M 2026 0 2 CNTN4 esv29042 3 2936083 2937775 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13757 S 451 0 6 CNTN4 NA06985,NA11995,NA12878,NA18517,NA19099,NA19129 esv270209 3 2936971 2937300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565594,essv2541000,essv2571680,essv2546615,essv2521088,essv2525870,essv2536485,essv2543874,essv2568234,essv2545395,essv2523422,essv2577520,essv2548628,essv2576801,essv2550546,essv2525412,essv2535328,essv2554030,essv2544381,essv2520601,essv2547355,essv2558498,essv2564743,essv2577950,essv2559628,essv2565333,essv2576210,essv2530775,essv2537399,essv2528220,essv2546809,essv2520995,essv2557568,essv2556903,essv2552517,essv2551733,essv2532431,essv2569555,essv2578705,essv2550159,essv2558756,essv2536961,essv2527114,essv2561607,essv2544954,essv2523832,essv2552779,essv2541308,essv2538296,essv2542998,essv2540669,essv2524740,essv2534608,essv2561129,essv2539645,essv2549543,essv2519658,essv2559794,essv2521968,essv2565927,essv2530957,essv2532865,essv2567893,essv2567557,essv2541739,essv2570050,essv2563821,essv2553415,essv2535865,essv2559388,essv2550977,essv2568961,essv2543692,essv2556162,essv2527972,essv2562223,essv2539458,essv2573049,essv2533727,essv2555747,essv2567175,essv2566684,essv2573908,essv2527476,essv2555969,essv2534291,essv2522443,essv2531371,essv2573406,essv2543373,essv2527023,essv2529612,essv2575576,essv2575209,essv2538670,essv2526608,essv2560703,essv2524276,essv2560897,essv2574809,essv2572709,essv2560457,essv2548073,essv2549643,essv2571542,essv2546004,essv2574129,essv2551515,essv2535984,essv2549102,essv2533291,essv2547851,essv2524873 M 157 113 0 Samples from several populations that are part of the HapMap project. CNTN4 NA06986,NA07037,NA07051,NA07347,NA07357,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11992,NA11995,NA12003,NA12004,NA12043,NA12045,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12873,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18942,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272298 3 2936971 2937300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582212,essv2582357,essv2582914,essv2583979,essv2584563,essv2583737 M 7 6 0 Samples from several populations that are part of the HapMap project. CNTN4 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv29782 3 2989395 2990548 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13832 S 451 0 2 CNTN4 NA12044,NA19129 esv2360836 3 2996838 2997284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571609 S 1 0 1 CNTN4 NA18507 nsv3675 3 3011332 3056144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7765 S 9 0 1 CNTN4 NA12156 nsv876404 3 3015424 3079303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548519 S 6533 1 0 CNTN4 MS17878 nsv515751 3 3027402 3030247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664675,nssv690219,nssv677699,nssv690369 M 2026 0 4 CNTN4 nsv521796 3 3055509 3167903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694098 S 2026 0 1 CNTN4,CRBN,IL5RA,TRNT1 nsv819643 3 3089691 3093363 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419567 S 2 0 1 IL5RA AK1 nsv518298 3 3095571 3096857 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694223 S 2026 1 0 IL5RA nsv876405 3 3108791 3206647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589877 S 6533 1 0 CRBN,IL5RA,TRNT1 IS38421 nsv876406 3 3127661 3128615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508276 S 6533 0 1 "" SP54551 nsv237385 3 3133651 3133719 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255963 M 24 "" esv997190 3 3133653 3133721 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579468 S 3 0 1 "" HuRef esv1567369 3 3133660 3133729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667276 S 2 0 1 "" HuRef dgv787n67 3 3149248 3152140 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821956,nsv821957 M 31 0 2 TRNT1 AK16,AK4 nsv834604 3 3163767 3378667 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442668 S 95 1 0 CRBN,TRNT1 nsv3676 3 3194462 3228285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5939 S 9 1 0 CRBN NA19129 nsv516940 3 3201378 3206647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690347,nssv678305,nssv684601,nssv692691,nssv687091,nssv655067 M 2026 0 6 "" esv993442 3 3206919 3207649 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565799 S 3 1 0 "" HuRef esv1140059 3 3207462 3207462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061068 S 2 1 0 "" HuRef esv25359 3 3212866 3213551 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14042 S 451 1 0 "" NA19147 nsv876407 3 3224106 3286720 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548520 S 6533 1 0 "" MS17878 esv1415997 3 3250713 3250713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800327 S 2 1 0 "" HuRef nsv876408 3 3255819 3916390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537363 S 6533 0 1 LRRN1 MS13169 esv2636653 3 3272777 3273268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370082 S 1 0 1 "" NA18507 nsv876409 3 3337465 3476945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538263 S 6533 1 0 "" MS13553 esv269300 3 3383009 3384882 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512505,essv2510605,essv2494221,essv2493248,essv2505936,essv2495677,essv2504610,essv2499084,essv2497010,essv2501930,essv2502159 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18502,NA18504,NA18861,NA18916,NA19099,NA19114,NA19190,NA19239,NA19257 esv272180 3 3383018 3384994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580176,essv2580480,essv2580042 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2752000 3 3398498 3687240 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988345,essv6981023,essv6981022,essv6981021 M 771 1 0 "" BEC_337 nsv526651 3 3432052 3642895 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702978 S 2026 1 0 "" nsv821958 3 3455975 3456832 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431929 S 31 0 1 "" AK20 dgv788n67 3 3455975 3457322 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821959,nsv821962,nsv821960,nsv821961 M 31 0 18 "" AK16,AK18,AK2,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18582,NA18592,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 esv26429 3 3455989 3456986 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13567 S 451 0 1 "" NA18907 nsv527718 3 3490438 3505023 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704199 S 2026 1 0 "" nsv528948 3 3505633 3506472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705640 S 2026 0 1 "" esv270270 3 3520976 3521342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509822,essv2506288,essv2494031 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18523,NA18871 nsv821963 3 3529815 3531370 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436473 S 31 0 1 "" NA18542 nsv471104 3 3538991 3562732 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547689 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv3678 3 3539068 3580658 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9873 S 9 0 1 "" NA18507 nsv460332 3 3555449 3611664 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536926 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00815 esv2752001 3 3555740 3874791 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984819,essv6984820,essv6984821,essv6984822,essv6984823 M 771 1 0 LRRN1 SPC_181 esv2432974 3 3562736 3568920 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330248 S 1 0 1 "" NA18507 esv2500963 3 3562736 3569641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353641 S 1 0 1 "" NA18507 esv1984697 3 3563095 3568953 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856099 S 1 0 1 "" NA18507 nsv514134 3 3563252 3568744 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627530 S 1414 0 1 "" nsv3679 3 3564180 3596878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5940 S 9 1 0 "" NA19129 nsv876410 3 3596354 3624245 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548521 S 6533 1 0 "" MS17878 esv33321 3 3599896 3600040 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92927,essv94231 M 51 2 0 "" 21939,22394 esv2614648 3 3613795 3614665 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305873 S 1 1 0 "" NA18507 esv1073273 3 3614515 3614515 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086722 S 2 1 0 "" HuRef nsv507078 3 3623022 3629022 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622844,nssv617591,nssv620753,nssv621693 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv238048 3 3698308 3698381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256626 M 24 "" nsv509812 3 3721034 3727034 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618568,nssv622020,nssv621545 M 4 0 3 "" CHM,NA10860,NA15510 nsv821964 3 3724287 3736199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429679 S 31 0 1 "" AK14 nsv523857 3 3731970 3745669 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699692 S 2026 1 0 "" nsv507079 3 3787799 3793799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622845,nssv617592,nssv621694,nssv620754 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1648335 3 3806527 3806799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211791 S 2 0 1 "" HuRef esv1559198 3 3806948 3806948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617401 S 2 1 0 "" HuRef esv1006927 3 3817232 3817307 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583205 S 3 0 1 LRRN1 HuRef esv1787606 3 3817284 3817360 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729299 S 2 0 1 LRRN1 HuRef nsv236590 3 3817368 3817443 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255168 M 24 LRRN1 esv3608 3 3848167 3848788 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26049 S 1 0 1 Single Asian sample YH LRRN1 YH esv6311 3 3848217 3848544 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28752 S 1 0 1 LRRN1 SJK esv1213048 3 3848217 3848546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102605 S 2 0 1 LRRN1 HuRef nsv3680 3 3869881 3903230 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7766 S 9 1 0 "" NA12156 dgv5090n71 3 3878887 4076356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876413,nsv876411,nsv876412 M 6533 0 6 "" MS16117,MS17817,MS18211,MS18829,MS21477,MS24932 nsv876414 3 3895844 3989660 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548522 S 6533 1 0 "" MS17878 esv21593 3 3931893 3979684 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18027 S 451 0 1 "" NA07037 dgv5091n71 3 3936273 4017202 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876415,nsv876416 M 6533 0 2 "" SP57690,SP58416 dgv5092n71 3 3949224 4199731 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876417,nsv876418 M 6533 0 2 "" IS39325,SP55277 nsv528048 3 3974670 4188033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704580 S 2026 0 1 "" nsv876419 3 3975579 3999657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534543 S 6533 0 1 "" MS11666 nsv524715 3 3989660 4031652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700700 S 2026 0 1 "" nsv519389 3 3995215 4000703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696828 S 2026 0 1 "" nsv876420 3 3995215 4007899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577253 S 6533 0 1 "" IS34400 esv25669 3 3995790 3996891 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19324 S 451 0 1 "" NA19129 esv2752003 3 3996516 4050936 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984824,essv6984825,essv6988854 M 771 1 0 "" SPC_181 esv2752004 3 3996516 4180623 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981720,essv6981721,essv6988006,essv6988005 M 771 0 1 "" BEC_328 nsv876421 3 3997769 4101259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585662 S 6533 0 1 "" IS37609 esv28632 3 4020515 4021343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19469 S 451 0 1 "" NA19129 dgv5093n71 3 4024724 4081769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876423,nsv876422 M 6533 0 3 "" IS38430,IS38630,IS38660 nsv508208 3 4028925 4085710 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617473 S 4 0 1 "" CHM nsv876424 3 4035937 4053081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548523 S 6533 1 0 "" MS17878 dgv588n27 3 4035937 4235317 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460336,nsv460335 M 1557 0 2 "" HGDP00133,HGDP01179 nsv471215 3 4038645 4214953 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544365,nssv544587,nssv544476,nssv544698,nssv544809 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00473,HGDP01090,HGDP01179,HGDP01319,HGDP01357 esv2648173 3 4041299 4045306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337675 S 1 0 1 "" NA18507 esv994285 3 4041468 4044935 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565399 S 3 0 1 "" HuRef esv2327308 3 4041730 4044758 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881257 S 1 0 1 "" NA18507 nsv513031 3 4041767 4044622 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626513 S 1 0 1 "" 1 esv3755 3 4041908 4044631 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26196 S 1 0 1 Single Asian sample YH "" YH nsv498991 3 4041924 4044569 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585852 S 9 0 1 "" nsv236220 3 4041925 4044555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254798 M 24 "" esv1279989 3 4041937 4044568 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027393 S 2 0 1 "" HuRef esv8741 3 4041940 4044567 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31182 S 1 0 1 "" SJK dgv5094n71 3 4046151 4156750 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876427,nsv876426,nsv876425,nsv876428 M 6533 0 10 "" SP51087,SP52351,SP52863,SP54448,SP55803,SP57270,SP57430,SP57728,SP58325,SP81359 nsv460337 3 4049033 4140733 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536929 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01333 nsv528756 3 4050733 4085799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705418 S 2026 0 1 "" nsv437624 3 4053654 4078926 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467505 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12864 nsv519512 3 4053654 4199731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696893 S 2026 0 1 "" dgv1429e1 3 4062787 4081495 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1418,essv19809,essv24025 M 271 0 0 "" NA12864,NA12873 dgv589n27 3 4063576 4076356 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460340,nsv460342,nsv460338,nsv460343,nsv460341 M 1557 0 5 "" 1782681313_A,HGDP01357,NINDS_115,NINDS_223,NINDS_51 nsv438386 3 4063576 4076356 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471222,nssv471221 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12864,NA12873 nsv517232 3 4063576 4076356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690591,nssv686296,nssv682783,nssv692283,nssv657820,nssv679321,nssv654079 M 2026 0 7 "" nsv876429 3 4063576 4347513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562288 S 6533 0 1 SETMAR MS25486 esv2752005 3 4063809 4158674 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981081,essv6981082,essv6981083,essv6987908 M 771 0 1 "" BEC_350 esv2752006 3 4063809 4214850 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989549,essv6989275,essv6981975,essv6981976 M 771 0 1 "" BEC_51 nsv460344 3 4067922 4111234 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536936 S 1557 0 1 "" 1780854016_A dgv5095n71 3 4068619 4235317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876430,nsv876443,nsv876441,nsv876440,nsv876439,nsv876444,nsv876445 M 6533 0 15 "" IS30129,MS13129,MS25519,SP50532,SP50823,SP51082,SP51132,SP54406,SP55362,SP55513,SP55829,SP57140,SP81019,SP81083,SP81554 nsv876431 3 4071644 4103777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555710 S 6533 0 1 "" MS21522 nsv526916 3 4073819 4160026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703277 S 2026 0 1 "" dgv5096n71 3 4076356 4297908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876433,nsv876449,nsv876432 M 6533 0 3 "" IS35181,IS38193,SP54577 nsv876434 3 4085799 4135866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527888 S 6533 1 0 "" SP81061 dgv5097n71 3 4085799 4156750 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876442,nsv876435 M 6533 0 4 "" IS36657,IS40012,IS40072,SP56689 dgv5098n71 3 4085799 4180623 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876438,nsv876436 M 6533 0 4 "" MS22251,SP50101,SP53705,SP56410 nsv876437 3 4085799 4241844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527620 S 6533 1 0 "" SP58575 dgv272n21 3 4097269 4336483 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516589,nsv522239 M 2026 0 26 SETMAR nsv460345 3 4110452 4140733 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536937 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00279 nsv460346 3 4110452 4214953 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536938 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01319 esv34292 3 4113369 4180623 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978431,essv6989023 M 771 0 1 "" NA19098 dgv1430e1 3 4113369 4185967 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13979,essv11389 M 271 0 0 "" NA19098,NA19127 dgv1431e1 3 4113369 4395357 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4060,esv522 M 271 0 0 SETMAR,SUMF1 NA18635 nsv876446 3 4118873 4145874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544541 S 6533 0 1 "" MS16376 nsv460347 3 4120538 4137607 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536939 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01309 dgv590n27 3 4120538 4156750 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460348,nsv460349 M 1557 0 2 "" 1780854023_A,1780854328_A dgv5099n71 3 4120538 4180623 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876448,nsv876447 M 6533 0 3 "" IS30369,IS38067,MS14388 dgv591n27 3 4120538 4180623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460352,nsv460351 M 1557 0 2 "" HGDP00473,HGDP01090 nsv876450 3 4135866 4250803 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548524 S 6533 1 0 "" MS17878 dgv592n27 3 4137607 4287735 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460353,nsv460354,nsv460355 M 1557 0 3 "" 1780854417_A,1782681313_A,1798860491_A nsv876451 3 4145874 4241844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568062 S 6533 0 1 "" IS31194 nsv876452 3 4145874 4312312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527889 S 6533 1 0 "" SP81061 esv27060 3 4167417 4176134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21048 S 451 0 3 "" NA18861,NA18909,NA19099 nsv514135 3 4167619 4171751 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627541 S 1414 0 1 "" esv2421569 3 4167639 4172015 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085987,essv5040653,essv5154701,essv5011889,essv5040400,essv5136778,essv5094743,essv5053677,essv5157532,essv5112676,essv5142485,essv5089564,essv5130365,essv5082769,essv5066069,essv5072072,essv5029295,essv5040326,essv5051404,essv5102329,essv5034618,essv5150643,essv5093276,essv5146682,essv5148297,essv5092692,essv5111330,essv5105676,essv5132656,essv5118311,essv5050332,essv5099553,essv5044964,essv5107658,essv5097406,essv5071038,essv5080614,essv5029864,essv5051491,essv5030051,essv5152783,essv5015619,essv5077734,essv5006218,essv5043036,essv5158635,essv5128502,essv5049235,essv5152956 M 1184 0 49 "" NA18162,NA18485,NA18489,NA18557,NA18861,NA18863,NA18909,NA18911,NA18913,NA18914,NA19027,NA19098,NA19099,NA19127,NA19131,NA19132,NA19143,NA19175,NA19185,NA19197,NA19199,NA19214,NA19215,NA19311,NA19346,NA19350,NA19376,NA19398,NA19430,NA19431,NA19434,NA19451,NA19704,NA19708,NA19779,NA19781,NA19901,NA19902,NA20281,NA20290,NA20356,NA20358,NA20502,NA20903,NA21620,NA21693,NA21716,NA21719,NA21776 nsv442852 3 4167639 4172015 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv10246 3 4168584 4179816 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11907 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2535432 3 4179356 4180414 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229959 S 1 1 0 "" NA18507 esv270509 3 4180123 4180459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558126,essv2540897,essv2546192,essv2521046,essv2526135,essv2542234,essv2536595,essv2522950,essv2568109,essv2577570,essv2570699,essv2548216,essv2521462,essv2576816,essv2550600,essv2525244,essv2535223,essv2553966,essv2552212,essv2520535,essv2547560,essv2558309,essv2564499,essv2553652,essv2565309,essv2576154,essv2519937,essv2563962,essv2561961,essv2537594,essv2528424,essv2547033,essv2520954,essv2557278,essv2552614,essv2532356,essv2569207,essv2537159,essv2538954,essv2527236,essv2561459,essv2544914,essv2562845,essv2523531,essv2542649,essv2540458,essv2565150,essv2534875,essv2519552,essv2532540,essv2567669,essv2528840,essv2567462,essv2570244,essv2535603,essv2572269,essv2550901,essv2556297,essv2528061,essv2534121,essv2578131,essv2533638,essv2567128,essv2531339,essv2573515,essv2576967,essv2572022,essv2529511,essv2575149,essv2538694,essv2560852,essv2574957,essv2568773,essv2571102,essv2545721,essv2574098,essv2538060,essv2549117,essv2533148,essv2554779,essv2547680,essv2525021,essv2563545 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11995,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12763,NA12812,NA12814,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18505,NA18508,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18550,NA18552,NA18558,NA18561,NA18566,NA18576,NA18577,NA18579,NA18582,NA18593,NA18608,NA18609,NA18858,NA18871,NA18907,NA18916,NA18940,NA18944,NA18947,NA18961,NA18964,NA18970,NA18973,NA19093,NA19102,NA19108,NA19137,NA19138,NA19147,NA19238,NA19239,NA19240 esv272275 3 4180127 4180461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581731,essv2582574,essv2583004,essv2583971,essv2584706,essv2583408 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1094340 3 4180150 4180150 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134373 S 2 1 0 "" HuRef dgv5100n71 3 4188033 4303131 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876454,nsv876453,nsv876455 M 6533 0 3 "" MS20997,SP52464,SP56542 nsv3681 3 4212331 4257186 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7767 S 9 0 1 "" NA12156 dgv5101n71 3 4214953 4257950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876457,nsv876456,nsv876458,nsv876459 M 6533 0 10 "" MS23109,SP50102,SP50107,SP50145,SP50598,SP51200,SP52439,SP55174,SP55567,SP81187 nsv876460 3 4214953 4287735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537061 S 6533 0 1 "" MS13095 nsv460356 3 4228219 4236304 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536948 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00772 esv1240261 3 4234213 4234213 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165686 S 2 1 0 "" HuRef essv7251 3 4241532 4252366 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18635 nsv876461 3 4251680 4331985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582136 S 6533 1 0 SETMAR IS35789 nsv876462 3 4261700 4320766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555595 S 6533 0 1 SETMAR MS21460 nsv10247 3 4263741 4265796 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28424 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv469899 3 4297908 4331985 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544920 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SETMAR HGDP00907 nsv876463 3 4300300 4377649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570099 S 6533 0 1 SETMAR IS31800 nsv518660 3 4317274 4317353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696110 S 2026 0 1 "" nsv523381 3 4351030 4369361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699130 S 2026 0 1 "" esv4208 3 4373577 4375421 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26649 S 1 0 1 Single Asian sample YH "" YH esv8143 3 4373594 4375363 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30584 S 1 0 1 "" SJK nsv876464 3 4395255 4420708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563934,nssv1597465,nssv1599760 M 6533 0 3 SUMF1 IS30133,IS40872,IS41785 nsv876465 3 4420708 4461303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554185 S 6533 1 0 SUMF1 MS20632 nsv876466 3 4443080 4507469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561256 S 6533 0 1 SUMF1 MS24900 nsv876467 3 4468871 4552500 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548525 S 6533 1 0 ITPR1,SUMF1 MS17878 esv1508587 3 4473477 4473477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137434 S 2 1 0 SUMF1 HuRef esv2422450 3 4483871 4631225 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161263 S 181 0 1 ITPR1,SUMF1 ND05029 nsv834605 3 4525274 4659725 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442669 S 95 1 0 ITPR1 nsv876468 3 4537667 4576969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587769 S 6533 0 1 ITPR1 IS38111 nsv876469 3 4553306 4626501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561396 S 6533 0 1 ITPR1 MS24970 nsv518121 3 4560549 4565681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695537 S 2026 0 1 ITPR1 nsv517614 3 4595320 4596315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668359,nssv667154,nssv652515 M 2026 0 3 ITPR1 nsv520447 3 4620916 4626501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697425 S 2026 0 1 ITPR1 nsv876470 3 4626501 4722247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548526 S 6533 1 0 ITPR1 MS17878 nsv460357 3 4673109 4768520 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536949 S 1557 0 1 EGOT,ITPR1 NINDS_223 dgv593n27 3 4768520 4772041 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460359,nsv460358 M 1557 0 2 ITPR1 1780862127_A,1780862229_A nsv3682 3 4783471 4810418 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6992 S 9 1 0 ITPR1 NA12156 esv2346022 3 4823614 4824026 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697998 S 1 0 1 ITPR1 NA18507 esv987725 3 4823777 4823831 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571891 S 3 0 1 ITPR1 HuRef esv1521656 3 4823820 4823875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158357 S 2 0 1 ITPR1 HuRef nsv470010 3 4841320 4945333 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545031 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITPR1,LOC100507582 HGDP01302 nsv460360 3 4843958 4945333 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536952 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITPR1,LOC100507582 HGDP01302 nsv834606 3 4851703 5073932 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442670 S 95 0 1 BHLHE40,ITPR1,LOC100507582 nsv236209 3 4898894 4898894 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254787 M 24 "" esv1132008 3 4898965 4898965 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307672 S 2 1 0 "" HuRef esv27960 3 4907839 4913174 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16052 S 451 0 1 "" NA12489 esv269422 3 4921507 4921669 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494807,essv2505741,essv2507274,essv2506549,essv2499049 M 157 5 0 Samples from several populations that are part of the HapMap project. LOC100507582 NA18519,NA18861,NA18870,NA19108,NA19114 nsv507080 3 4935442 4941442 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621695 S 4 1 0 "" NA10860 nsv517888 3 4966139 4994936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695296 S 2026 0 1 "" esv23882 3 4969160 4969718 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21139 S 451 1 0 "" NA19257 nsv516673 3 4969341 4991106 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670968,nssv663655,nssv670076 M 2026 3 0 "" nsv876471 3 4991106 5026241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548527 S 6533 1 0 BHLHE40 MS17878 esv2625957 3 5005489 5006843 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181469 S 1 0 1 "" NA18507 nsv876472 3 5039834 5132479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501252 S 6533 0 1 "" SP50754 nsv438387 3 5073705 5078825 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471225,nssv471223 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18961,NA18981 esv1138416 3 5096256 5096256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946954 S 2 1 0 "" HuRef esv2484755 3 5175684 5177167 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285629 S 1 0 1 ARL8B NA18507 nsv876473 3 5248528 5305719 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548528 S 6533 1 0 MIR4790 MS17878 esv1032887 3 5248931 5248931 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923622 S 2 1 0 "" HuRef esv994515 3 5248931 5249582 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563703 S 3 1 0 "" HuRef esv2544622 3 5255716 5256599 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223691 S 1 1 0 "" NA18507 nsv876474 3 5363544 5417857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596790 S 6533 0 1 "" IS40643 nsv876475 3 5363544 5444862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536149 S 6533 0 1 "" MS12640 dgv594n27 3 5365651 5417857 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460363,nsv460362 M 1557 0 2 "" HGDP00901,NINDS_22 dgv273n21 3 5383302 5411345 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518375,nsv523424 M 2026 0 2 "" nsv460364 3 5383302 5513017 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536956 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00080 nsv436379 3 5389193 5396969 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465980 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28797 3 5394528 5395472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18499 S 451 0 1 "" NA18505 nsv516005 3 5395067 5395175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665672,nssv677097,nssv668212 M 2026 0 3 "" nsv528350 3 5402290 5427555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704934 S 2026 0 1 "" esv267672 3 5459088 5459389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521262,essv2571034,essv2577403,essv2521714,essv2550695,essv2550268,essv2530723,essv2544964,essv2563038,essv2552887,essv2538321,essv2542765,essv2540392,essv2522117,essv2566201,essv2530977,essv2567781,essv2528765,essv2563677,essv2553218,essv2572461,essv2559057,essv2578393,essv2573262,essv2555687,essv2566351,essv2527511,essv2522348,essv2577001,essv2572134,essv2536155,essv2548937 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11894,NA11993,NA12043,NA12144,NA12155,NA12234,NA12873,NA18526,NA18532,NA18542,NA18547,NA18550,NA18552,NA18571,NA18572,NA18573,NA18577,NA18579,NA18603,NA18605,NA18609,NA18638,NA18940,NA18942,NA18945,NA18948,NA18952,NA18960,NA18970,NA18973 nsv876476 3 5459481 5511975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512333 S 6533 0 1 "" SP55436 nsv876477 3 5471096 5643014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534885,nssv1560262,nssv1544695 M 6533 0 3 "" MS11760,MS16436,MS24400 esv25768 3 5509615 5514260 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13846 S 451 0 5 "" NA06985,NA11995,NA12156,NA12239,NA12414 dgv789n67 3 5510233 5514308 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821966,nsv821967,nsv821968 M 31 0 4 "" NA18526,NA18947,NA18949,NA18972 nsv514136 3 5510425 5514022 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627552 S 1414 0 1 "" nsv876478 3 5513017 5534479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512334 S 6533 0 1 "" SP55436 nsv821969 3 5534190 5538937 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440247 S 31 0 1 "" NA18564 nsv460366 3 5556537 5682689 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536957 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00934 dgv274n21 3 5564870 5686897 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525426,nsv522750 M 2026 2 0 "" nsv517208 3 5572285 5582784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671552,nssv674170,nssv682383,nssv660790,nssv688773,nssv686208,nssv651949,nssv655564,nssv686720,nssv680436,nssv683785,nssv670512,nssv661689,nssv683087,nssv680155,nssv677280,nssv676995,nssv667348,nssv654012,nssv666135,nssv673486,nssv694038,nssv686842,nssv659616,nssv685820,nssv676389,nssv670167,nssv660840,nssv670124,nssv656516,nssv677028,nssv655718,nssv690941,nssv668853,nssv693383,nssv673906 M 2026 0 36 "" nsv470121 3 5574083 5682689 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545142 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00934 nsv512794 3 5580909 5582032 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625427 S 1 1 0 "" 1 esv2500557 3 5581563 5582267 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381549 S 1 1 0 "" NA18507 esv259656 3 5581780 5582063 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394182,essv2393935,essv2393854,essv2393717,essv2394011,essv2394287 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv260057 3 5581785 5582068 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398633,essv2396752,essv2400192,essv2400027,essv2394747,essv2398586,essv2399069,essv2400258,essv2400343,essv2395286,essv2396545,essv2401160,essv2397544,essv2398872,essv2396020,essv2400552,essv2398092,essv2400276,essv2396807,essv2399399,essv2398675,essv2400777,essv2395396,essv2396704,essv2397978,essv2399621,essv2398282,essv2399702,essv2397363,essv2401032,essv2396933,essv2397608,essv2395260,essv2395669,essv2397702,essv2397793,essv2399237,essv2400642,essv2394987,essv2399345,essv2396163,essv2394925,essv2400947,essv2395111,essv2398421,essv2400356,essv2396299,essv2399871,essv2398527,essv2395503,essv2400849,essv2397426,essv2399569,essv2395077,essv2397189,essv2400614,essv2397869,essv2396866,essv2398825,essv2400440,essv2395532,essv2398973,essv2399001,essv2400163,essv2399140,essv2399408,essv2400063,essv2394685,essv2397892,essv2398227,essv2395359,essv2394891,essv2394416,essv2396198,essv2395873,essv2397522,essv2395446,essv2397130,essv2397776,essv2395816,essv2399630,essv2394563,essv2396973,essv2397378,essv2398767,essv2398296,essv2400981,essv2395167,essv2394864,essv2399777,essv2396387,essv2398010,essv2398720,essv2399689,essv2397252,essv2395917,essv2397042,essv2400472,essv2394479 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11829,NA11881,NA11918,NA11919,NA11931,NA11992,NA11995,NA12003,NA12043,NA12144,NA12154,NA12249,NA12287,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18522,NA18523,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18956,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv7424 3 5581935 5581984 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29865 S 1 1 0 "" SJK nsv876479 3 5601851 5699642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548529 S 6533 1 0 "" MS17878 nsv821970 3 5652107 5652861 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436475 S 31 0 1 "" NA18542 nsv524379 3 5675132 5916986 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700294 S 2026 1 0 "" nsv876480 3 5691365 5799878 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570305 S 6533 1 0 "" IS31875 nsv437319 3 5697805 5702171 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467200 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18857 nsv834607 3 5744861 5909626 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442671 S 95 1 0 "" nsv460367 3 5771218 6237479 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536958 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01347 esv2239350 3 5805508 5805859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792029 S 1 0 1 "" NA18507 nsv460368 3 5844391 6411873 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536959 S 1557 1 0 "" 1780862109_A nsv876481 3 5866856 5900737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580587,nssv1598806,nssv1597096,nssv1599512 M 6533 4 0 "" IS35385,IS40734,IS40828,IS41648 nsv876482 3 5870027 5882475 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513559 S 6533 1 0 "" SP55797 nsv876483 3 5871152 5888291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516235 S 6533 1 0 "" SP56707 nsv876484 3 5872751 5977693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548530 S 6533 1 0 "" MS17878 esv26464 3 5920644 5924087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9908 S 451 0 2 "" NA18502,NA19190 nsv876485 3 6011180 6115061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502312 S 6533 0 1 "" SP51060 nsv876486 3 6043860 6077823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562210 S 6533 0 1 "" MS25439 nsv470232 3 6056827 6075940 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545253 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01276 nsv516727 3 6056827 6075940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671061,nssv686229,nssv689268,nssv673314,nssv670487 M 2026 0 5 "" nsv460369 3 6057552 6075940 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536960 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01276 esv272604 3 6078014 6078362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581264 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2631826 3 6117697 6119214 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215220 S 1 0 1 "" NA18507 nsv3683 3 6127255 6130808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3086 S 9 1 0 "" NA18555 nsv876487 3 6137218 6366939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555732 S 6533 0 1 "" MS21528 dgv1432e1 3 6181901 6211442 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9302,essv13106 M 271 0 0 "" NA18852,NA18859 dgv1433e1 3 6181901 6224264 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8505,esv1220,essv13375,essv11355,essv16603 M 271 0 0 "" NA18854,NA18858,NA18860,NA19159 nsv834608 3 6184066 6351755 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442672 S 95 1 0 "" nsv876488 3 6186640 6211038 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548531 S 6533 1 0 "" MS17878 dgv69n17 3 6188788 6220005 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437321,nsv437320 M 60 0 2 "" NA18854,NA18860 nsv876489 3 6191211 6621026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562354 S 6533 0 1 "" MS25526 nsv10248 3 6191571 6215858 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11901 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv818124 3 6194093 6211038 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417839,nssv1416711,nssv1417838 M 112 0 3 "" NA18852,NA18854,NA19159 dgv595n27 3 6194093 6214264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460375,nsv460371,nsv460370,nsv460376,nsv460374,nsv460373 M 1557 0 6 "" HGDP00475,HGDP00691,HGDP00926,HGDP00942,HGDP01416,NINDS_16 esv2421776 3 6194093 6215260 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060827,essv5139874,essv5105679,essv5044403,essv5119279,essv5155744,essv5154438,essv5053219,essv5052023,essv5082797,essv5096094,essv5043901,essv5146854,essv5124118,essv5050765,essv5023233,essv5086454,essv5113252,essv5050159,essv5092797,essv5105524,essv5093817,essv5053788,essv5081146,essv5028441,essv5028975,essv5149431,essv5150994,essv5034887 M 1184 0 29 "" NA18519,NA18852,NA18854,NA18858,NA18859,NA18860,NA18862,NA18916,NA19159,NA20126,NA20287,NA20340,NA20344,NA20345,NA20349,NA21295,NA21308,NA21309,NA21363,NA21368,NA21381,NA21383,NA21415,NA21479,NA21485,NA21517,NA21575,NA21632,NA21685 nsv470343 3 6194093 6215771 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545809,nssv545698,nssv545587,nssv545364,nssv545476 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00475,HGDP00691,HGDP00926,HGDP00942,HGDP01416 nsv517033 3 6194093 6215771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664784,nssv672321,nssv686111,nssv653706,nssv686878,nssv675548,nssv654292,nssv662931,nssv659637,nssv653648,nssv672932,nssv660791,nssv656575,nssv671154,nssv671782,nssv658625,nssv665480,nssv677132,nssv690161,nssv690917,nssv677535,nssv672631,nssv658127,nssv679203,nssv670050,nssv658642,nssv682299,nssv689586,nssv691918,nssv655088 M 2026 0 30 "" esv21459 3 6194115 6215583 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14506 S 451 0 2 "" NA18858,NA18916 nsv438389 3 6196030 6211038 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471226,nssv471227 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18859,NA18860 essv14041 3 6199872 6220005 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18862 nsv442853 3 6200911 6215260 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514137 3 6203756 6214852 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627563 S 1414 0 1 "" nsv819481 3 6205049 6217662 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418633 S 2 1 0 "" AK1 nsv821971 3 6215805 6216317 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432713 S 31 1 0 "" NA18972 esv33230 3 6249524 6294261 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97271 S 51 1 0 "" 22075 esv25416 3 6267984 6268493 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21054 S 451 1 0 "" NA12044 nsv528186 3 6297086 6303081 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704742 S 2026 1 0 "" nsv3684 3 6307926 6352801 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2386 S 9 0 1 "" NA18555 nsv821972 3 6310718 6334250 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428147 S 31 0 1 "" AK10 esv7662 3 6328008 6328101 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30103 S 1 1 0 "" SJK esv7221 3 6328084 6328172 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29662 S 1 1 0 "" SJK esv272302 3 6370777 6371075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580806,essv2579780 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269795 3 6370802 6371108 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546344,essv2521126,essv2526079,essv2536386,essv2522904,essv2523123,essv2577292,essv2548510,essv2521539,essv2525256,essv2535070,essv2544376,essv2520626,essv2547597,essv2564765,essv2553685,essv2546978,essv2521003,essv2551723,essv2532270,essv2562549,essv2569430,essv2539103,essv2569697,essv2527165,essv2561453,essv2538307,essv2542781,essv2534639,essv2567369,essv2570168,essv2563598,essv2553392,essv2566761,essv2542145,essv2543405,essv2527753,essv2562291,essv2539316,essv2573258,essv2556054,essv2522442,essv2575069,essv2526516,essv2524076,essv2560800,essv2530261,essv2560244,essv2549875,essv2536280,essv2533167,essv2547804 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07347,NA11881,NA11894,NA11918,NA11920,NA11931,NA12004,NA12043,NA12045,NA12144,NA12156,NA12249,NA12414,NA12716,NA12717,NA12751,NA12763,NA12892,NA18498,NA18504,NA18505,NA18507,NA18508,NA18519,NA18520,NA18522,NA18523,NA18547,NA18550,NA18561,NA18582,NA18593,NA18603,NA18605,NA18853,NA18856,NA18870,NA18907,NA18909,NA18912,NA18942,NA18956,NA18960,NA19102,NA19114,NA19129,NA19137,NA19141,NA19190,NA19225 esv1344072 3 6370833 6370833 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595883 S 2 1 0 "" HuRef nsv524502 3 6401456 6410584 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700444 S 2026 0 1 "" esv1697495 3 6405197 6405485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166683 S 2 0 1 "" HuRef nsv876490 3 6405603 6444083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504591 S 6533 0 1 "" SP52656 nsv876491 3 6411873 6517082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565727 S 6533 0 1 "" IS30515 nsv3685 3 6419687 6451309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4595 S 9 1 0 "" NA12878 nsv834609 3 6475547 6631181 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442673 S 95 1 0 "" nsv876492 3 6483807 6626929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574257 S 6533 0 1 "" IS33533 nsv10249 3 6492869 6629980 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28341,nssv29071,nssv28735,nssv28478 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA10839,NA10863,NA12872,NA18572 esv274391 3 6500381 6500617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582105,essv2582726 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv272389 3 6611856 6612084 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579933 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv268328 3 6611883 6612063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512244,essv2494673,essv2494944,essv2506212,essv2512948,essv2494608,essv2507915,essv2511373,essv2507702,essv2508167,essv2496124,essv2498405,essv2505811,essv2507196,essv2503567,essv2497443,essv2502622,essv2504874,essv2506588,essv2511930 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18519,NA18520,NA18523,NA18547,NA18550,NA18564,NA18570,NA18576,NA18579,NA18603,NA18858,NA18861,NA18870,NA18947,NA18959,NA18965,NA19099,NA19108,NA19238 dgv70n17 3 6624648 6631706 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437668,nsv437646,nsv437635,nsv437657 M 60 0 4 "" NA10831,NA10839,NA10846,NA10863 nsv876493 3 6624660 8051372 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554908 S 6533 1 0 GRM7 MS21090 esv23888 3 6625271 6629513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15833 S 451 0 6 "" NA07037,NA11993,NA12156,NA12776,NA12828,NA12878 nsv442854 3 6626128 6628332 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422092 3 6626128 6629060 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133023,essv5110787,essv5132346,essv5066084,essv5153613,essv5078423,essv5087047,essv5035522,essv5118251,essv5139660,essv5058558,essv5076913,essv5027203,essv5130785,essv5147157,essv5157621,essv5102994,essv5043463,essv5004424,essv5149124,essv5082193,essv5052183,essv5055581,essv5086492,essv5030119,essv5136508,essv5033517,essv5107736,essv5119613,essv5121669,essv5146628,essv5074330,essv5155734,essv5050578,essv5103644,essv5151597,essv5143072,essv5020002,essv5098790,essv5110230,essv5085359,essv5073960,essv5055549,essv5128206,essv5067741,essv5097471,essv5015336,essv5137530,essv5125402,essv5059801,essv5108387,essv5131698,essv5010210,essv5093673,essv5152745,essv5119372,essv5062155,essv5150467,essv5051986,essv5043693,essv5077810,essv5018116,essv5036907,essv5056231,essv5108344,essv5040229,essv5078049,essv5024918,essv5075502,essv5037736,essv5101097,essv5080227,essv5098024,essv5155287,essv5009182,essv5102092,essv5051995,essv5083263,essv5159087,essv5013074,essv5111508,essv5020841,essv5066047,essv5123748,essv5058037,essv5029261,essv5020341,essv5107690,essv5048587,essv5109857,essv5011297,essv5149571,essv5089891,essv5013183,essv5109013,essv5144364,essv5108237,essv5082829,essv5102869,essv5079062,essv5080597,essv5132936,essv5040639,essv5007403,essv5113239,essv5072539,essv5129874,essv5004843,essv5050830,essv5144669,essv5155195,essv5030892,essv5036875,essv5066368,essv5141314,essv5034378,essv5130452,essv5089112,essv5050601,essv5156711,essv5067288,essv5102882,essv5147525 M 1184 0 123 "" NA06984,NA06989,NA06994,NA06995,NA07037,NA07435,NA10831,NA10836,NA10839,NA10843,NA10846,NA10852,NA10854,NA10855,NA10863,NA10864,NA10865,NA11831,NA11832,NA11839,NA11891,NA11893,NA11919,NA11993,NA12005,NA12043,NA12144,NA12156,NA12234,NA12341,NA12344,NA12348,NA12400,NA12413,NA12707,NA12748,NA12750,NA12766,NA12767,NA12776,NA12777,NA12778,NA12817,NA12827,NA12828,NA12830,NA12832,NA12842,NA12843,NA12872,NA12878,NA12891,NA18572,NA19651,NA19653,NA19663,NA19665,NA19670,NA19675,NA19678,NA19679,NA19719,NA19721,NA19723,NA19756,NA19757,NA19773,NA19775,NA19777,NA19778,NA19819,NA19828,NA20126,NA20128,NA20277,NA20502,NA20504,NA20505,NA20506,NA20521,NA20522,NA20525,NA20534,NA20539,NA20540,NA20541,NA20542,NA20544,NA20581,NA20588,NA20752,NA20753,NA20754,NA20755,NA20757,NA20758,NA20759,NA20765,NA20769,NA20770,NA20772,NA20774,NA20778,NA20790,NA20797,NA20812,NA20815,NA20819,NA20846,NA20849,NA20850,NA20859,NA20881,NA20883,NA21089,NA21116,NA21119,NA21125,NA21141,NA21355,NA21457,NA21520,NA21683 nsv514138 3 6626386 6628292 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627571 S 1414 0 1 "" esv267724 3 6654927 6655248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495419,essv2502859,essv2508559,essv2502530,essv2508893,essv2500351,essv2494508,essv2503999 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11919,NA12156,NA12717,NA12750,NA12878,NA12891,NA18572 esv272480 3 6654929 6655278 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580039 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 nsv821973 3 6675769 6676312 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438053 S 31 1 0 "" NA18951 esv8418 3 6675831 6676252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30859 S 1 0 1 "" SJK esv3493 3 6675834 6676342 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25934 S 1 0 1 Single Asian sample YH "" YH esv23254 3 6713986 6714528 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20463 S 451 1 0 "" NA11993 nsv509813 3 6716406 6722406 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621546,nssv623894 M 4 0 2 "" NA15510,NA18994 esv1552559 3 6716416 6716416 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750691 S 2 1 0 "" HuRef nsv876494 3 6716612 6754075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568620 S 6533 0 1 "" IS31323 esv270891 3 6727684 6733759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512557,essv2496850,essv2493206,essv2493611,essv2513497,essv2509472,essv2502120 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18504,NA18517,NA18907,NA19129,NA19257 nsv441811 3 6744713 6748970 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv876495 3 6779787 6815697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586610 S 6533 0 1 "" IS37884 nsv518755 3 6894818 6958750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696203 S 2026 0 1 GRM7 nsv876496 3 6970426 7038064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573453 S 6533 0 1 GRM7 IS33393 nsv507081 3 6984643 6990643 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620755,nssv617593,nssv622846,nssv621696 M 4 4 0 GRM7 CHM,NA10860,NA15510,NA18994 nsv876497 3 6999127 7055290 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548532 S 6533 1 0 GRM7 MS17878 esv9380 3 7011939 7036257 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31821 S 1 0 0 GRM7 SJK nsv526975 3 7053179 7144453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703347 S 2026 0 1 GRM7 esv2752015 3 7060713 7176316 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987931,essv6987932,essv6981255,essv6981256 M 771 0 1 GRM7 BEC_374 nsv876498 3 7068553 7157177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538939 S 6533 0 1 GRM7 MS13867 esv24058 3 7076766 7077433 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10057 S 451 0 1 GRM7 NA19257 esv2590123 3 7104851 7105810 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350747 S 1 1 0 GRM7 NA18507 esv270358 3 7105354 7105693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565610,essv2541082,essv2546545,essv2521060,essv2526229,essv2542301,essv2536764,essv2522954,essv2544103,essv2568146,essv2545405,essv2577322,essv2570535,essv2548196,essv2521837,essv2576838,essv2525331,essv2535222,essv2544327,essv2552128,essv2547212,essv2558470,essv2564580,essv2559703,essv2565501,essv2520215,essv2564072,essv2537666,essv2528471,essv2546816,essv2540170,essv2520809,essv2557492,essv2556839,essv2552390,essv2551734,essv2532277,essv2562670,essv2569245,essv2578841,essv2549990,essv2558952,essv2536873,essv2539057,essv2569662,essv2527053,essv2561689,essv2544800,essv2523784,essv2541417,essv2538436,essv2542908,essv2565052,essv2534926,essv2561302,essv2539765,essv2560043,essv2522103,essv2532459,essv2567744,essv2567306,essv2541607,essv2569954,essv2553405,essv2572424,essv2559243,essv2566983,essv2551028,essv2568866,essv2543617,essv2527794,essv2562539,essv2539466,essv2533888,essv2578427,essv2573118,essv2555718,essv2566363,essv2530001,essv2555976,essv2534426,essv2522565,essv2531297,essv2573580,essv2525646,essv2529426,essv2575575,essv2575179,essv2538788,essv2526587,essv2560725,essv2524184,essv2560891,essv2574600,essv2568812,essv2545025,essv2560516,essv2548151,essv2549768,essv2571173,essv2545755,essv2574359,essv2551222,essv2536232,essv2532953,essv2524935 M 157 106 0 Samples from several populations that are part of the HapMap project. GRM7 NA06986,NA07051,NA07357,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12414,NA12489,NA12717,NA12750,NA12751,NA12776,NA12812,NA12815,NA12828,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18550,NA18558,NA18561,NA18562,NA18563,NA18570,NA18571,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18609,NA18638,NA18853,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18945,NA18948,NA18949,NA18956,NA18959,NA18960,NA18961,NA18964,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv274141 3 7105354 7105693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582244,essv2582750,essv2583110,essv2584328,essv2584455,essv2583372 M 7 6 0 Samples from several populations that are part of the HapMap project. GRM7 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1005105 3 7105369 7105369 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566453 S 3 1 0 GRM7 HuRef esv271066 3 7108362 7108711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514560,essv2516719,essv2518773,essv2518497,essv2516355,essv2514451,essv2517555,essv2515829,essv2518951,essv2513785,essv2518355,essv2519346,essv2513681 M 157 13 0 Samples from several populations that are part of the HapMap project. GRM7 NA07346,NA07347,NA11840,NA11881,NA12045,NA12287,NA12814,NA12874,NA12878,NA18969,NA19141,NA19143,NA19240 esv272371 3 7108362 7108711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581314,essv2581081 M 7 2 0 Samples from several populations that are part of the HapMap project. GRM7 NA12878,NA19240 nsv237180 3 7115999 7116052 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255758 M 24 GRM7 nsv460377 3 7170141 7267607 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536968 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRM7 HGDP01064 nsv876499 3 7208935 7258969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599523 S 6533 0 1 GRM7 IS41655 nsv818125 3 7230401 7237014 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417546 S 112 0 1 GRM7 NA18971 esv5346 3 7321971 7322434 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27787 S 1 0 1 Single Asian sample YH GRM7 YH esv8633 3 7322006 7322324 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31074 S 1 0 1 GRM7 SJK nsv236588 3 7322025 7322322 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255166 M 24 GRM7 esv28710 3 7323719 7325492 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11605 S 451 7 0 GRM7 NA07045,NA12749,NA18916,NA19108,NA19114,NA19225,NA19257 nsv876500 3 7329377 7356091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509583 S 6533 0 1 GRM7 SP54884 esv22695 3 7375041 7377164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13078 S 451 0 4 GRM7 NA11995,NA18508,NA19129,NA19147 nsv834610 3 7473814 7685271 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442675 S 95 1 0 GRM7 nsv818126 3 7484265 7486375 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416632 S 112 0 1 GRM7 NA19119 dgv1434e1 3 7499552 7539303 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv929,essv11306 M 271 0 0 GRM7 NA18863 nsv876501 3 7504555 7550648 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548533 S 6533 1 0 GRM7 MS17878 nsv876502 3 7504555 7566405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559057 S 6533 0 1 GRM7 MS23703 esv268940 3 7513728 7514020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541268,essv2566268,essv2572336,essv2566808,essv2527490,essv2526957,essv2526729,essv2560661,essv2530360,essv2572913,essv2536253,essv2538152,essv2524967 M 157 13 0 Samples from several populations that are part of the HapMap project. GRM7 NA06986,NA07000,NA07357,NA18545,NA18572,NA18609,NA18853,NA18952,NA19005,NA19114,NA19116,NA19141,NA19143 nsv524074 3 7514592 7514974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699942 S 2026 0 1 GRM7 esv1450820 3 7589599 7589599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977448 S 2 1 0 GRM7 HuRef nsv876503 3 7616515 7714919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548534 S 6533 1 0 GRM7 MS17878 nsv524307 3 7649009 7798055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700208 S 2026 0 1 GRM7 esv998955 3 7649075 7658134 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564453 S 3 0 1 GRM7 HuRef nsv876504 3 7658434 7696223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548307 S 6533 0 1 GRM7 MS17798 nsv237477 3 7660854 7660913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256055 M 24 GRM7 esv2455660 3 7686185 7687681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350897 S 1 0 1 GRM7 NA18507 esv2342652 3 7686369 7686912 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579160 S 1 0 1 GRM7 NA18507 dgv112n6 3 7795512 7795595 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237689,nsv237941 M 24 "" esv1226476 3 7796262 7796262 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3682387 S 2 1 0 "" HuRef nsv236890 3 7796263 7796263 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255468 M 24 "" esv1426024 3 7822002 7822002 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281116 S 2 1 0 "" HuRef nsv834611 3 7826212 8025940 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442676 S 95 1 0 "" dgv5102n71 3 7841171 7957083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876505,nsv876506 M 6533 0 8 "" IS30278,IS30824,IS35279,IS38226,IS39061,IS40520,IS41196,IS41913 nsv525159 3 7871679 7872220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701233 S 2026 0 1 "" nsv519708 3 7880067 7887645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658305,nssv657746 M 2026 0 2 "" esv1000084 3 7880946 7881149 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568834 S 3 0 1 "" HuRef nsv876507 3 7891554 7966981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548535 S 6533 1 0 "" MS17878 nsv528162 3 7909293 7915671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704711 S 2026 0 1 "" nsv3686 3 7917550 7948498 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1652 S 9 1 0 "" NA19240 nsv516571 3 7957083 7957827 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684370,nssv663708,nssv669252,nssv672632,nssv685649,nssv663008,nssv678439,nssv692974,nssv675233,nssv684836,nssv676874,nssv663677,nssv671062,nssv674544,nssv680718 M 2026 15 0 "" nsv518897 3 7957083 7966981 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696356 S 2026 1 0 "" nsv876508 3 8065865 8166420 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548536 S 6533 1 0 "" MS17878 esv1206815 3 8110477 8110477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174648 S 2 1 0 "" HuRef nsv236523 3 8110542 8110542 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255101 M 24 "" esv1005269 3 8153815 8154388 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586512 S 3 1 0 "" HuRef nsv821974 3 8162694 8163466 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434300 S 31 1 0 "" NA18570 nsv876509 3 8208002 8260764 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548537 S 6533 1 0 LOC100288428 MS17878 dgv5103n71 3 8219910 8289924 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876511,nsv876510 M 6533 3 0 LOC100288428 IS31757,IS37064,IS40309 nsv876512 3 8247716 8294151 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554339 S 6533 1 0 LOC100288428 MS20741 esv268881 3 8280875 8281141 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512156,essv2502000 M 157 2 0 Samples from several populations that are part of the HapMap project. LOC100288428 NA19238,NA19257 esv272897 3 8280901 8281201 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580879 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100288428 NA19238 nsv834612 3 8282048 8469256 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442677 S 95 0 1 LOC100288428 nsv511208 3 8299589 8302085 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626643 S 1 0 1 LOC100288428 1 nsv513032 3 8300468 8301945 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626514 S 1 0 1 LOC100288428 1 dgv790n67 3 8300549 8301813 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821975,nsv821978,nsv821977 M 31 0 11 LOC100288428 AK12,AK18,AK4,NA18537,NA18547,NA18552,NA18564,NA18592,NA18942,NA18973,NA18999 dgv104e180 3 8300589 8301775 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008757,esv998804 M 3 0 1 LOC100288428 HuRef nsv820283 3 8300600 8301855 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419217 S 2 0 1 LOC100288428 AK1 esv29582 3 8300612 8301814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12754 S 451 0 9 LOC100288428 NA06985,NA07037,NA11993,NA11995,NA12004,NA12489,NA12828,NA12878,NA18861 esv1010150 3 8300638 8301810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566225 S 3 0 1 LOC100288428 HuRef esv1742263 3 8300639 8301812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118471 S 2 0 1 LOC100288428 HuRef esv32888 3 8383652 8384238 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99465 S 51 0 1 LOC100288428 22335 esv32855 3 8412164 8413261 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101616,essv101241,essv100919,essv96985,essv95666,essv95545,essv95857,essv94623,essv92967,essv93217,essv100477,essv100312,essv98441 M 51 0 13 LOC100288428 21603,21618,21693,21817,21841,21847,21911,21932,21939,22170,22298,22300,22352 nsv513033 3 8427266 8430244 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626515 S 1 0 1 LOC100288428 1 esv2559340 3 8427839 8429672 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227078 S 1 0 1 LOC100288428 NA18507 esv2397558 3 8428240 8428629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646906 S 1 0 1 LOC100288428 NA18507 esv1328997 3 8428426 8428576 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131662 S 2 0 1 LOC100288428 HuRef esv1006612 3 8428486 8429366 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586249 S 3 0 1 LOC100288428 HuRef esv27694 3 8428486 8429426 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19724 S 451 1 23 LOC100288428 NA06985,NA11894,NA11931,NA11993,NA11995,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19129,NA19190,NA19225 esv1478578 3 8428647 8428698 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243493 S 2 0 1 LOC100288428 HuRef esv1131128 3 8428710 8429010 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150934 S 2 0 1 LOC100288428 HuRef nsv3687 3 8439309 8473037 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3087 S 9 1 0 LOC100288428 NA18555 esv1402188 3 8457186 8457186 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835191 S 2 1 0 LOC100288428 HuRef esv1214601 3 8464086 8464144 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182659 S 2 0 1 LOC100288428 HuRef esv1238714 3 8519013 8519013 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313014 S 2 1 0 LMCD1 HuRef nsv519789 3 8526649 8529052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697052 S 2026 0 1 LMCD1 esv259668 3 8576011 8576916 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393648,essv2394295 M 6 0 0 Samples from several populations that are part of the HapMap project. LMCD1 NA19238,NA19240 esv259915 3 8576016 8576922 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399083,essv2396014,essv2396808,essv2395380,essv2396703,essv2397607,essv2395237,essv2397672,essv2397841,essv2396620,essv2397884,essv2399921,essv2399449,essv2400684,essv2395349,essv2394565,essv2398287,essv2400984,essv2394808,essv2399502,essv2396454,essv2398723,essv2399661,essv2397226,essv2395912,essv2400497 M 144 0 0 Samples from several populations that are part of the HapMap project. LMCD1 NA10851,NA12003,NA12155,NA12749,NA12750,NA18489,NA18499,NA18502,NA18505,NA18526,NA18577,NA18856,NA18858,NA18912,NA18916,NA18965,NA19093,NA19099,NA19114,NA19137,NA19138,NA19190,NA19210,NA19225,NA19238,NA19240 nsv820839 3 8576050 8576859 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420309 S 1 1 0 LMCD1 NA10851 nsv821979 3 8576050 8576859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437338 S 31 0 1 LMCD1 NA18949 nsv821980 3 8576328 8576859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432714,nssv1423259,nssv1431931 M 31 0 3 LMCD1 AK20,NA18972,NA18999 nsv529038 3 8614568 8616133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705751 S 2026 0 1 "" nsv876513 3 8627993 8742642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575547 S 6533 0 1 C3orf32 IS33772 nsv519414 3 8638427 8650778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696840 S 2026 0 1 C3orf32 nsv528575 3 8639738 8642735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705194 S 2026 0 1 C3orf32 esv1225869 3 8671836 8671937 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709004 S 2 0 1 "" HuRef esv25852 3 8686588 8719024 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10260 S 451 1 0 "" NA19129 esv2453113 3 8693858 8697845 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333429 S 1 0 1 "" NA18507 esv2195049 3 8695001 8696243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999599 S 1 0 1 "" NA18507 esv1086198 3 8695169 8696045 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113797 S 2 0 1 "" HuRef esv3633 3 8695249 8695589 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26074 S 1 0 1 Single Asian sample YH "" YH dgv30n50 3 8695620 8745247 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511207,nsv513034 M 1 0 1 "" 1 nsv876514 3 8724558 9094182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548538 S 6533 1 0 CAV3,OXTR,RAD18,SRGAP3 MS17878 nsv516057 3 8777483 8785896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661520,nssv673717,nssv659279,nssv692217,nssv660134,nssv687413,nssv665906,nssv673315,nssv676755 M 2026 0 9 OXTR dgv5104n71 3 8780602 8795075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876515,nsv876516 M 6533 0 2 OXTR IS39233,IS40297 nsv819115 3 8785089 8786392 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419230 S 2 1 0 OXTR AK1 dgv275n21 3 8788927 8852996 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv517310,nsv519145 M 2026 26 0 "" dgv596n27 3 8795732 8837925 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460399,nsv460404,nsv460379,nsv460416,nsv460398,nsv460391,nsv460380,nsv460408,nsv460397,nsv460407,nsv460390,nsv460396,nsv460393,nsv460401,nsv460389,nsv460405,nsv460409,nsv460387,nsv460392,nsv460400,nsv460378,nsv460418,nsv460403,nsv460388,nsv460402 M 1557 25 0 "" 1780854118_A,1780854219_A,1780854401_A,1780862089_A,1780862521_A,1780862530_A,1780862578_A,HGDP00072,HGDP00092,HGDP00143,HGDP00148,HGDP00341,HGDP00584,HGDP00882,HGDP00891,HGDP01380,HGDP01400,NINDS_102,NINDS_12,NINDS_124,NINDS_193,NINDS_200,NINDS_51,NINDS_73,NINDS_94 dgv5105n71 3 8797352 8837925 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876520,nsv876519,nsv876518,nsv876517 M 6533 5 0 "" IS36298,IS39525,IS40834,IS41319,MS13621 nsv470383 3 8801023 8832963 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545920,nssv546031,nssv546142 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00072,HGDP00584,HGDP00891 nsv460415 3 8801023 8856713 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv536996 S 1557 1 0 "" 1798860084_A esv2752019 3 8801121 8871630 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981266,essv6985522 M 771 1 0 "" BEC_375 dgv5106n71 3 8901733 8952758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876522,nsv876521 M 6533 0 2 RAD18 SP54402,SP57270 nsv518352 3 8922678 9106599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695780 S 2026 0 1 RAD18,SRGAP3 esv275011 3 8925193 8935318 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585448,essv2585526 M 1250 1 1 RAD18 nsv520776 3 8929959 8963809 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697603 S 2026 1 0 RAD18 nsv528867 3 8929959 8970186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705547 S 2026 0 1 RAD18 nsv3689 3 8984109 9009889 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7768 S 9 0 1 SRGAP3 NA12156 dgv276n21 3 9056319 9057851 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516467,nsv518974 M 2026 0 5 SRGAP3 nsv521065 3 9086221 9088024 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694415 S 2026 0 1 SRGAP3 nsv876523 3 9122178 9190296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548539 S 6533 1 0 SRGAP3 MS17878 esv25936 3 9132386 9132839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21121 S 451 0 1 SRGAP3 NA19190 nsv3690 3 9208951 9240666 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5941 S 9 1 0 SRGAP3 NA19129 esv2122831 3 9229048 9229427 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676011 S 1 0 1 SRGAP3 NA18507 esv2570996 3 9316624 9317212 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312254 S 1 1 0 "" NA18507 nsv3691 3 9318138 9362788 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7769 S 9 0 1 "" NA12156 esv25121 3 9334852 9340532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13231 S 451 0 1 "" NA12006 nsv515704 3 9338272 9341920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662633,nssv664485,nssv674129 M 2026 0 3 "" dgv277n21 3 9406750 9470119 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525436,nsv526039 M 2026 0 2 LOC440944,SETD5 nsv821981 3 9413235 9414866 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431932 S 31 0 1 LOC440944,SETD5 AK20 nsv237037 3 9416529 9423291 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255615 M 24 SETD5 nsv527954 3 9424055 9454142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704464 S 2026 0 1 SETD5 nsv3692 3 9438426 9472657 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1653 S 9 1 0 SETD5 NA19240 nsv876524 3 9498294 9610471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548540 S 6533 1 0 LHFPL4 MS17878 nsv834614 3 9512372 9656150 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442678 S 95 1 0 LHFPL4 esv21759 3 9536103 9537858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19503 S 451 0 2 LHFPL4 NA18861,NA18909 esv270663 3 9552224 9552309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517925 S 157 1 0 Samples from several populations that are part of the HapMap project. LHFPL4 NA12872 esv27971 3 9569476 9570525 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15800 S 451 0 1 LHFPL4 NA19129 esv269835 3 9690453 9690812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496524,essv2493788,essv2507323,essv2495596,essv2504628,essv2506704,essv2510898,essv2498665 M 157 8 0 Samples from several populations that are part of the HapMap project. MTMR14 NA18510,NA18517,NA18912,NA18916,NA19099,NA19108,NA19116,NA19138 nsv821982 3 9777484 9778129 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429681 S 31 1 0 CAMK1,OGG1 AK14 nsv834615 3 9807737 9988323 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442679 S 95 0 1 ARPC4,ARPC4-TTLL3,CIDEC,CRELD1,IL17RC,IL17RE,JAGN1,PRRT3,RPUSD3,TADA3,TMEM111,TTLL3 nsv237238 3 9833219 9838746 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255816 M 24 ARPC4-TTLL3,TTLL3 nsv819644 3 9834234 9834885 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419041 S 2 1 0 ARPC4-TTLL3,TTLL3 AK1 esv2437113 3 9870200 9872847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330053 S 1 0 1 "" NA18507 nsv821983 3 9896053 9904378 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438711 S 31 0 1 CIDEC NA18973 nsv876525 3 10007259 10061680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512013 S 6533 1 0 CIDECP,FANCD2,LOC401052 SP55257 nsv523205 3 10021703 10058935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698925 S 2026 0 1 CIDECP,FANCD2,LOC401052 nsv521391 3 10035425 10064773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698000 S 2026 0 1 CIDECP,FANCD2 nsv436362 3 10065028 11877038 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465981 S 2 0 1 Samples from several populations that are part of the HapMap project. ATG7,ATP2B2,BRK1,C3orf24,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IRAK2,LOC285370,MIR885,SEC13,SLC6A1,SLC6A11,TAMM41,TATDN2,VGLL4,VHL NA18505 nsv436869 3 10081140 11894459 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465982 S 2 1 0 Samples from several populations that are part of the HapMap project. ATG7,ATP2B2,BRK1,C3orf24,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IRAK2,LOC285370,MIR885,SEC13,SLC6A1,SLC6A11,TAMM41,TATDN2,VGLL4,VHL NA18505 esv4117 3 10083894 11908140 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26558 S 1 0 0 Single Asian sample YH ATG7,ATP2B2,BRK1,C3orf24,FANCD2,GHRL,GHRLOS,GHRLOS2,HRH1,IRAK2,LOC285370,MIR885,SEC13,SLC6A1,SLC6A11,TAMM41,TATDN2,VGLL4,VHL YH nsv3693 3 10150126 10180247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10333 S 9 1 0 VHL NA18956 esv2428247 3 10150392 10151067 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190781 S 1 1 0 "" NA18507 esv6737 3 10193535 10197705 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29178 S 1 0 1 IRAK2 SJK nsv821984 3 10194064 10197675 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436476 S 31 0 1 IRAK2 NA18542 nsv436398 3 10197769 10204815 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465983 S 2 0 1 Samples from several populations that are part of the HapMap project. IRAK2 NA18505 esv23190 3 10201141 10203910 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16274 S 451 0 3 IRAK2 NA18505,NA18517,NA18909 nsv437322 3 10205807 10232768 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467203 S 60 0 1 Samples from several populations that are part of the HapMap project. IRAK2 NA19154 nsv524674 3 10209065 10213124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700645 S 2026 0 1 IRAK2 nsv522516 3 10211947 10252866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705885 S 2026 1 0 IRAK2 nsv523288 3 10213124 10232768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699028 S 2026 0 1 IRAK2 nsv876526 3 10215159 10277056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547529 S 6533 0 1 IRAK2,TATDN2 MS17431 nsv821985 3 10248663 10255711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433546 S 31 0 1 IRAK2 NA18526 esv1307821 3 10258006 10258006 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814013 S 2 1 0 IRAK2 HuRef nsv460420 3 10277172 10310786 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537000 S 1557 0 1 GHRL,GHRLOS,GHRLOS2,TATDN2 1780854295_A nsv236904 3 10283633 10291681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255482 M 24 TATDN2 nsv508903 3 10292037 10418578 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619313 S 4 1 0 ATP2B2,GHRL,GHRLOS,GHRLOS2,MIR885,SEC13,TATDN2 NA10860 esv2556727 3 10336480 10336696 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276214 S 1 0 1 SEC13 NA18507 nsv819083 3 10344490 10345083 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419018 S 2 0 1 ATP2B2 AK1 esv2448735 3 10371656 10373218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341865 S 1 0 1 ATP2B2 NA18507 nsv876527 3 10371988 10402190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534683 S 6533 0 1 ATP2B2 MS11726 esv2131051 3 10372277 10373017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696405 S 1 0 1 ATP2B2 NA18507 esv5127 3 10372402 10372919 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27568 S 1 0 1 Single Asian sample YH ATP2B2 YH esv7060 3 10372477 10372814 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29501 S 1 0 1 ATP2B2 SJK nsv522531 3 10377103 10391225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705903 S 2026 0 1 ATP2B2 esv2504495 3 10382360 10382671 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354354 S 1 1 0 ATP2B2 NA18507 nsv512795 3 10382494 10382581 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625428 S 1 1 0 ATP2B2 1 nsv876528 3 10392929 10471681 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548541 S 6533 1 0 ATP2B2,MIR885 MS17878 nsv460421 3 10394173 10409941 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537001 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2B2 HGDP01351 nsv508904 3 10472678 10554639 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619314 S 4 1 0 ATP2B2 NA10860 nsv876529 3 10476498 10507556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530471 S 6533 0 1 ATP2B2 MS10311 nsv460423 3 10481644 10488414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537002 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP2B2 HGDP00402 esv270415 3 10485621 10485924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497141,essv2511129 M 157 2 0 Samples from several populations that are part of the HapMap project. ATP2B2 NA18552,NA18944 nsv460424 3 10494680 10502775 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537003 S 1557 0 1 ATP2B2 1780862075_A nsv519313 3 10497678 10500187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696786 S 2026 0 1 ATP2B2 esv1720167 3 10524599 10524650 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013785 S 2 0 1 "" HuRef nsv3694 3 10541244 10576262 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1654 S 9 1 0 "" NA19240 nsv3695 3 10583826 10601466 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10334 S 9 1 0 "" NA18956 nsv523167 3 10608169 10608335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698879 S 2026 0 1 "" nsv876530 3 10608335 10664625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548542 S 6533 1 0 "" MS17878 nsv528879 3 10613324 10617523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705559 S 2026 0 1 "" nsv526081 3 10624468 10631823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702325 S 2026 0 1 "" nsv876531 3 10633014 10659895 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596725 S 6533 0 1 "" IS40625 nsv460425 3 10664671 10755801 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537004 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00862 nsv876532 3 10673941 10764999 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548543 S 6533 1 0 "" MS17878 esv2358889 3 10733099 10733558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697961 S 1 0 1 "" NA18507 esv1199905 3 10733283 10733364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853486 S 2 0 1 "" HuRef esv1388351 3 10762062 10762062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213923 S 2 1 0 "" HuRef nsv876533 3 10786101 10860920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550216 S 6533 0 1 SLC6A11 MS18375 nsv3696 3 10850770 10884081 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1655 S 9 1 0 SLC6A11 NA19240 nsv522643 3 10941588 10941711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706043 S 2026 0 1 SLC6A11 nsv876534 3 11020896 11037934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530472 S 6533 0 1 SLC6A1 MS10311 nsv508209 3 11031778 11093066 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622452 S 4 0 1 SLC6A1 NA18994 nsv518622 3 11034996 11040807 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696070 S 2026 0 1 SLC6A1 nsv3697 3 11071142 11088654 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4596 S 9 0 1 "" NA12878 nsv517601 3 11082761 11085788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652478,nssv660719,nssv661445,nssv681649,nssv677644,nssv665691,nssv667091,nssv678948,nssv692552,nssv669727,nssv685760,nssv690589,nssv660517 M 2026 0 13 "" esv9693 3 11083277 11086914 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32134 S 1 0 1 "" SJK esv21778 3 11083322 11088177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11777 S 451 0 2 "" NA07037,NA12878 nsv876535 3 11100942 11356973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565677 S 6533 1 0 ATG7,HRH1 IS30504 esv2609663 3 11160511 11161356 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242231 S 1 1 0 HRH1 NA18507 esv273392 3 11179147 11179485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582765,essv2584288,essv2584565,essv2583607 M 7 4 0 Samples from several populations that are part of the HapMap project. HRH1 NA12891,NA19238,NA19239,NA19240 esv268134 3 11179147 11179487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546572,essv2521142,essv2543921,essv2568163,essv2577417,essv2521570,essv2525503,essv2564719,essv2555166,essv2528206,essv2552644,essv2562599,essv2569253,essv2549999,essv2539165,essv2552836,essv2538228,essv2542778,essv2524696,essv2539611,essv2519575,essv2560140,essv2530960,essv2568017,essv2528707,essv2570335,essv2559049,essv2541983,essv2569004,essv2556142,essv2527833,essv2562434,essv2539513,essv2578318,essv2555425,essv2555958,essv2534233,essv2522427,essv2572074,essv2529454,essv2575784,essv2575091,essv2538537,essv2526380,essv2524212,essv2574767,essv2530325,essv2568439,essv2545183,essv2560186,essv2571103,essv2546034,essv2574238,essv2551335,essv2538032 M 157 55 0 Samples from several populations that are part of the HapMap project. HRH1 NA07000,NA11881,NA11894,NA11992,NA11995,NA12043,NA12144,NA12156,NA12751,NA12872,NA12891,NA18502,NA18507,NA18508,NA18511,NA18519,NA18542,NA18547,NA18550,NA18555,NA18563,NA18566,NA18570,NA18573,NA18577,NA18579,NA18593,NA18638,NA18856,NA18861,NA18871,NA18907,NA18909,NA18912,NA18940,NA18943,NA18956,NA18959,NA18960,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv2151338 3 11183537 11183970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499320 S 1 0 1 HRH1 NA18507 esv1566288 3 11319964 11320368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170751 S 2 0 1 ATG7 HuRef nsv527441 3 11371562 11381692 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703882 S 2026 1 0 ATG7 nsv437323 3 11378441 11397319 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467204 S 60 0 1 Samples from several populations that are part of the HapMap project. ATG7 NA19132 esv26665 3 11385253 11389707 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19651 S 451 0 1 ATG7 NA19225 dgv113n6 3 11391397 11395159 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237921,nsv237002 M 24 ATG7 esv998828 3 11444780 11453322 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564697 S 3 0 1 ATG7 HuRef dgv5107n71 3 11489860 11592308 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876536,nsv876537 M 6533 0 3 ATG7,VGLL4 IS39233,MS10769,MS16315 nsv3698 3 11534032 11566187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6993 S 9 1 0 ATG7 NA12156 esv9285 3 11558021 11558104 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31726 S 1 1 0 ATG7 SJK nsv517831 3 11558254 11593468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695235 S 2026 0 1 ATG7,VGLL4 esv1000938 3 11562312 11571051 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565067 S 3 0 1 ATG7 HuRef nsv821986 3 11579607 11580341 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431933 S 31 0 1 VGLL4 AK20 nsv520880 3 11580373 11593468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677738,nssv676873 M 2026 0 2 VGLL4 esv2283589 3 11589588 11590015 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611793 S 1 0 1 VGLL4 NA18507 esv4895 3 11589664 11589893 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27336 S 1 0 1 Single Asian sample YH VGLL4 YH nsv237362 3 11589720 11589795 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255940 M 24 VGLL4 esv1423720 3 11589777 11589837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836183 S 2 0 1 VGLL4 HuRef esv2512352 3 11615836 11616454 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182384 S 1 1 0 VGLL4 NA18507 nsv511196 3 11618465 11622173 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626510 S 1 0 1 VGLL4 1 nsv513035 3 11620420 11621794 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626517 S 1 0 1 VGLL4 1 dgv791n67 3 11620569 11621622 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821988,nsv821989 M 31 0 7 VGLL4 AK10,AK2,NA18570,NA18582,NA18592,NA18947,NA18997 esv26292 3 11620801 11622122 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18635 S 451 0 4 VGLL4 NA11894,NA11931,NA12239,NA18909 esv2130512 3 11674522 11675199 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4669668 S 1 0 1 VGLL4 NA18507 esv270454 3 11675085 11675426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518660,essv2516116,essv2513788,essv2518246,essv2519359 M 157 5 0 Samples from several populations that are part of the HapMap project. VGLL4 NA07346,NA12045,NA12873,NA19143,NA19240 esv272805 3 11675085 11675426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581149 S 7 1 0 Samples from several populations that are part of the HapMap project. VGLL4 NA19240 nsv821990 3 11728040 11731948 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431197 S 31 0 1 VGLL4 AK18 esv25016 3 11735602 11736762 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16787 S 451 0 1 VGLL4 NA12489 nsv876538 3 11742553 11765188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507687 S 6533 0 1 "" SP54620 esv2538814 3 11756514 11759822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388807 S 1 0 1 "" NA18507 esv2010820 3 11757140 11759428 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787324 S 1 0 1 "" NA18507 esv28458 3 11757347 11759156 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19470 S 451 0 8 "" NA18508,NA18861,NA18916,NA19099,NA19114,NA19225,NA19240,NA19257 nsv876539 3 11778927 11846215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548544 S 6533 1 0 TAMM41 MS17878 nsv237022 3 11780985 11782177 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255600 M 24 "" nsv834616 3 11795888 11952510 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442680,nssv1442681 M 95 0 2 TAMM41 nsv821991 3 11832743 11833411 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424808 S 31 0 1 TAMM41 NA18968 nsv3700 3 11850373 11878336 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7771 S 9 0 1 TAMM41 NA12156 nsv3701 3 11863949 11899294 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4597 S 9 1 0 "" NA12878 nsv876540 3 11895880 11952551 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548545 S 6533 1 0 "" MS17878 nsv524443 3 11900967 11974795 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700375 S 2026 1 0 "" nsv517490 3 11907455 11920930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672769,nssv652179 M 2026 0 2 "" nsv437679 3 11920279 11935850 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467560 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10838 nsv820982 3 11958150 11960356 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420310 S 1 0 1 "" NA10851 nsv821992 3 11958150 11960356 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431934 S 31 1 0 "" AK20 esv22367 3 11958725 11960538 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14666,esv15925 M 451 0 11 "" NA11995,NA12156,NA12749,NA12828,NA12878,NA18505,NA18508,NA18517,NA18909,NA19108,NA19190 esv1731661 3 11959938 11959938 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132850 S 2 1 0 "" HuRef nsv460427 3 12005034 12043485 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537005 S 1557 0 1 SYN2 1780862197_A nsv519277 3 12070130 12119321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655185,nssv699337,nssv674278,nssv661109 M 2026 0 4 SYN2 esv2504613 3 12077615 12079043 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260844 S 1 0 1 SYN2 NA18507 esv2584673 3 12111405 12112442 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302289 S 1 1 0 SYN2 NA18507 esv1768590 3 12112071 12112071 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273521 S 2 1 0 SYN2 HuRef nsv7351 3 12127602 12876345 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10335 S 9 0 0 CAND2,LOC100129480,MKRN2,PPARG,RAF1,RPL32,SNORA7A,SYN2,TIMP4,TMEM40,TSEN2 NA18956 nsv236690 3 12157059 12166215 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255268 M 24 SYN2 esv2193425 3 12171349 12171783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708772 S 1 0 1 SYN2,TIMP4 NA18507 esv1007552 3 12171527 12171581 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575205 S 3 0 1 SYN2,TIMP4 HuRef esv1015927 3 12171533 12171588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040286 S 2 0 1 SYN2,TIMP4 HuRef nsv236830 3 12171534 12171588 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255408 M 24 SYN2,TIMP4 esv268675 3 12202626 12202723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511890,essv2505852,essv2504821,essv2501743,essv2498025 M 157 5 0 Samples from several populations that are part of the HapMap project. SYN2 NA18499,NA18861,NA19099,NA19239,NA19240 esv274410 3 12202628 12202956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584809,essv2583888 M 7 2 0 Samples from several populations that are part of the HapMap project. SYN2 NA19239,NA19240 esv28560 3 12234185 12236375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21418 S 451 0 2 "" NA18861,NA19240 esv2499273 3 12268188 12269617 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206511 S 1 0 1 "" NA18507 nsv3702 3 12273075 12317716 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7772 S 9 0 1 PPARG NA12156 esv4138 3 12326908 12327361 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26579 S 1 0 1 Single Asian sample YH PPARG YH esv7808 3 12326965 12327268 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30249 S 1 0 1 PPARG SJK esv2402478 3 12464665 12465105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522020 S 1 0 1 "" NA18507 esv1262443 3 12464889 12465102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730003 S 2 0 1 "" HuRef esv2751977 3 12469278 12903548 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988886,essv6985056,essv6985057,essv6985058,essv6987143 M 771 1 0 CAND2,LOC100129480,MKRN2,RAF1,RPL32,SNORA7A,TMEM40,TSEN2 BEC_830 nsv3703 3 12496244 12529346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5942 S 9 1 0 TSEN2 NA19129 nsv876541 3 12509327 12610706 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540355 S 6533 1 0 LOC100129480,MKRN2,RAF1,TSEN2 MS14809 nsv512796 3 12579190 12579507 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625429 S 1 1 0 MKRN2 1 dgv597n27 3 12599070 12792622 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460429,nsv460430,nsv460431,nsv460432,nsv460433 M 1557 5 0 MKRN2,RAF1,TMEM40 HGDP00706,HGDP00708,HGDP00860,HGDP01018,HGDP01019 nsv470394 3 12630689 12781123 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546364,nssv546253 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAF1,TMEM40 HGDP00706,HGDP00708 esv25162 3 12639994 12642814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13659 S 451 0 1 RAF1 NA18517 nsv460434 3 12684167 12777182 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537012 S 1557 0 1 TMEM40 1780862573_A nsv821993 3 12755083 12757559 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436477 S 31 0 1 TMEM40 NA18542 nsv821994 3 12769171 12788903 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437339 S 31 1 0 TMEM40 NA18949 nsv818127 3 12772563 12781123 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417396 S 112 1 0 TMEM40 NA18949 esv268485 3 12793435 12793767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557944,essv2565712,essv2575807,essv2540856,essv2546523,essv2542474,essv2536375,essv2522744,essv2543949,essv2571046,essv2556662,essv2568179,essv2545428,essv2523327,essv2577258,essv2548301,essv2576548,essv2550430,essv2535382,essv2544465,essv2552243,essv2520470,essv2547172,essv2558513,essv2564601,essv2577712,essv2553881,essv2559468,essv2576311,essv2520226,essv2554943,essv2561867,essv2537526,essv2546878,essv2540211,essv2557142,essv2551865,essv2532127,essv2569320,essv2578759,essv2558739,essv2536997,essv2539105,essv2523660,essv2540647,essv2524758,essv2539522,essv2560016,essv2566209,essv2532844,essv2569055,essv2543786,essv2527755,essv2539288,essv2534051,essv2555830,essv2572149,essv2526892,essv2529667,essv2575313,essv2526700,essv2524054,essv2574903,essv2568793,essv2571384,essv2546102,essv2574353,essv2536301,essv2538081,essv2548647,essv2533077,essv2524841 M 157 72 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10851,NA11829,NA11830,NA11831,NA11881,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12045,NA12154,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12872,NA12874,NA12878,NA12892,NA18489,NA18501,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18537,NA18552,NA18555,NA18563,NA18570,NA18572,NA18576,NA18861,NA18870,NA18907,NA18912,NA18916,NA18956,NA18973,NA19005,NA19093,NA19102,NA19114,NA19129,NA19138,NA19147,NA19238,NA19239,NA19240 esv273988 3 12793435 12793767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582094,essv2583054,essv2584070,essv2584722,essv2583879 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv460435 3 12829626 12993488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537013 S 1557 0 1 CAND2,IQSEC1,RPL32,SNORA7A 1780862019_A nsv821995 3 12854260 12855026 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434302 S 31 1 0 RPL32 NA18570 esv22488 3 12875602 12878082 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10070 S 451 0 1 "" NA18909 esv2425392 3 12876434 12879595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379334 S 1 0 1 "" NA18507 nsv876542 3 12878908 12930156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592127 S 6533 0 1 IQSEC1 IS39233 nsv876543 3 12878908 12992082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548546 S 6533 1 0 IQSEC1 MS17878 dgv5108n71 3 12878908 13239486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876547,nsv876544 M 6533 0 2 IQSEC1 IS30295,MS10311 nsv876545 3 12883510 12966383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549636,nssv1573757 M 6533 0 2 IQSEC1 IS33504,MS18276 nsv876546 3 12938216 13017982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585816 S 6533 0 1 IQSEC1 IS37646 nsv470405 3 12943104 13032011 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546475 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IQSEC1 HGDP00661 nsv834617 3 12943362 13120000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442682 S 95 0 1 IQSEC1 dgv1435e1 3 12945170 13265554 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4493,esv158 M 271 0 0 IQSEC1 NA18552 esv999756 3 12983808 12997573 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564786 S 3 0 1 IQSEC1 HuRef esv33832 3 12989960 13012361 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99768 S 51 1 0 IQSEC1 22086 esv33247 3 13021514 13049045 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100830,essv96926 M 51 0 2 IQSEC1 21656,21817 nsv460442 3 13070532 13114968 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537015 S 1557 0 1 IQSEC1 1780862043_A nsv876548 3 13108902 13213734 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502047 S 6533 1 0 "" SP51007 esv29877 3 13116525 13117575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10827 S 451 0 7 "" NA11894,NA12004,NA12828,NA12878,NA19147,NA19190,NA19225 nsv876549 3 13124782 13396150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546522 S 6533 0 1 NUP210 MS17208 nsv3704 3 13150606 13182200 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1656 S 9 1 0 "" NA19240 esv22858 3 13193654 13194209 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18494 S 451 1 0 "" NA19190 esv989409 3 13213291 13224927 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565287 S 3 0 1 "" HuRef esv23712 3 13226417 13228544 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11757 S 451 0 1 "" NA19190 nsv10251 3 13227279 13230122 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28812,nssv28717 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18537,NA19144 nsv876550 3 13244751 14595812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564765 S 6533 0 1 CHCHD4,FBLN2,GRIP2,HDAC11,LOC100132526,LOC285375,LSM3,NUP210,SLC6A6,TMEM43,TPRXL,WNT7A,XPC IS30295 nsv3705 3 13285856 13303212 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6994 S 9 1 0 "" NA12156 esv26975 3 13298837 13300015 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18542 S 451 0 1 "" NA12489 nsv3706 3 13339869 13371552 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6995 S 9 1 0 NUP210 NA12156 nsv876551 3 13400416 13546228 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548547 S 6533 1 0 HDAC11,NUP210 MS17878 nsv470416 3 13508582 13592050 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546587 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBLN2,HDAC11 HGDP00697 nsv876552 3 13508582 13676143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530474 S 6533 0 1 FBLN2,HDAC11,LOC285375 MS10311 nsv519673 3 13523520 13539048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698802,nssv684600,nssv657501,nssv685602,nssv680213,nssv688343,nssv680975,nssv658213,nssv657667,nssv675314 M 2026 0 10 "" nsv3707 3 13568837 13596782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1657 S 9 1 0 FBLN2 NA19240 esv1004489 3 13577440 13581463 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564259 S 3 0 1 FBLN2 HuRef dgv5109n71 3 13581196 13695098 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876560,nsv876557,nsv876558,nsv876556,nsv876553 M 6533 8 0 FBLN2,LOC285375 IS30275,IS31602,IS33292,IS34352,IS37591,IS38304,IS39347,IS40031 esv1004545 3 13590281 13598790 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565068 S 3 0 1 FBLN2 HuRef dgv5110n71 3 13592050 13654204 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876555,nsv876559,nsv876554 M 6533 3 0 FBLN2 IS32761,IS36957,IS40956 dgv5111n71 3 13622143 13695098 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876561,nsv876566,nsv876563,nsv876562,nsv876565 M 6533 5 0 FBLN2,LOC285375 IS32775,IS33558,IS35138,IS36681,IS39780 nsv526900 3 13626836 13628401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703260 S 2026 0 1 FBLN2 nsv876564 3 13626836 13654204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575322 S 6533 1 0 FBLN2 IS33705 nsv876567 3 13635810 13676143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546523 S 6533 0 1 FBLN2,LOC285375 MS17208 nsv3708 3 13637848 13669998 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5943 S 9 1 0 FBLN2,LOC285375 NA19129 nsv821167 3 13655915 13657278 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420311 S 1 0 1 "" NA10851 dgv792n67 3 13656059 13657278 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv821996,nsv821997 M 31 0 28 "" AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821999 3 13656176 13662438 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429682 S 31 1 0 "" AK14 esv24657 3 13656186 13657278 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13993 S 451 30 1 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv441812 3 13682416 13684365 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC285375 esv9214 3 13698503 13698578 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31655 S 1 1 0 LOC285375 SJK esv24585 3 13719273 13733037 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18983 S 451 3 0 LOC285375 NA11993,NA11995,NA12156 esv1006856 3 13728249 13728249 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581903 S 3 1 0 LOC285375 HuRef esv1347908 3 13728251 13728251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695948 S 2 1 0 LOC285375 HuRef nsv236154 3 13728392 13728695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254732 M 24 LOC285375 nsv524549 3 13738809 13742871 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700500 S 2026 1 0 LOC285375 nsv834618 3 13836606 13894094 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442683,nssv1442684 M 95 0 2 WNT7A nsv3709 3 13867006 13890672 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4598 S 9 1 0 WNT7A NA12878 esv34163 3 13882158 14228951 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CHCHD4,LOC100132526,LSM3,TMEM43,TPRXL,WNT7A,XPC esv2063559 3 13884949 13885384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875316 S 1 0 1 WNT7A NA18507 nsv3711 3 13922839 13954598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1658 S 9 1 0 LOC100132526,TPRXL NA19240 esv2584514 3 13972318 13972677 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288119 S 1 1 0 TPRXL NA18507 nsv512797 3 13972356 13972624 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625430 S 1 1 0 TPRXL 1 esv2629351 3 14054198 14054316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217296 S 1 0 1 TPRXL NA18507 esv269558 3 14058135 14058220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515711,essv2515901,essv2517576 M 157 3 0 Samples from several populations that are part of the HapMap project. TPRXL NA12815,NA12873,NA12878 esv273722 3 14058135 14058220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581457 S 7 1 0 Samples from several populations that are part of the HapMap project. TPRXL NA12878 nsv526467 3 14066429 14098907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702771 S 2026 0 1 TPRXL esv3573 3 14135837 14136056 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26014 S 1 0 1 Single Asian sample YH CHCHD4 YH nsv521096 3 14152252 14170683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697784 S 2026 0 1 TMEM43,XPC esv4628 3 14153119 14153939 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27069 S 1 0 1 Single Asian sample YH TMEM43 YH dgv793n67 3 14153152 14153915 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822001,nsv822000 M 31 0 2 TMEM43 NA18570,NA18582 esv23267 3 14153243 14153838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16486 S 451 0 1 TMEM43 NA15510 esv2208680 3 14171112 14171565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927409 S 1 0 1 XPC NA18507 esv3070 3 14171210 14171432 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25511 S 1 0 1 Single Asian sample YH XPC YH nsv517801 3 14237274 14257371 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695204 S 2026 1 0 "" esv23715 3 14266188 14270946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16300 S 451 0 1 "" NA18517 nsv516689 3 14266507 14270202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658677,nssv670166 M 2026 0 2 "" esv27564 3 14271087 14272314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16024 S 451 0 1 "" NA07037 nsv876568 3 14304488 14352613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601232 S 6533 0 1 "" IS41991 nsv876569 3 14320711 14356911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580020 S 6533 0 1 "" IS35225 esv2147269 3 14338209 14338644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934112 S 1 0 1 "" NA18507 nsv876570 3 14340270 14368629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548548 S 6533 1 0 "" MS17878 esv26485 3 14352486 14353126 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12546 S 451 0 1 "" NA12749 nsv834619 3 14370830 14504481 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442687,nssv1442686 M 95 1 1 SLC6A6 esv2500269 3 14412953 14413633 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228230 S 1 1 0 "" NA18507 nsv3712 3 14484365 14518236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3088,nssv5944 M 9 2 0 GRIP2,SLC6A6 NA18555,NA19129 nsv876571 3 14503260 14538241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543400 S 6533 0 1 GRIP2,SLC6A6 MS16153 nsv518216 3 14507029 14518673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695641 S 2026 0 1 GRIP2 nsv525798 3 14507029 14518673 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701980 S 2026 1 0 GRIP2 dgv5112n71 3 14507029 14557927 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876575,nsv876574,nsv876573,nsv876572 M 6533 0 8 GRIP2 IS32322,IS32841,IS38176,IS41634,MS11726,MS13095,MS13770,MS17208 nsv521453 3 14518330 14530815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698064 S 2026 0 1 GRIP2 nsv822002 3 14522076 14523501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429683 S 31 1 0 GRIP2 AK14 nsv470427 3 14522805 14580991 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546920,nssv547031,nssv546698,nssv546809 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRIP2 HGDP00290,HGDP00543,HGDP00661,HGDP00978 nsv460447 3 14550447 14562321 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537016 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRIP2 HGDP01147 nsv520402 3 14557673 14558198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663736,nssv691525 M 2026 0 2 GRIP2 nsv460448 3 14562321 14582980 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537017 S 1557 0 1 "" NINDS_66 nsv460449 3 14617282 14645567 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537018 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01296 nsv876576 3 14617895 14748271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553066 S 6533 0 1 C3orf19,C3orf20 MS19721 nsv3713 3 14621065 14629570 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2387 S 9 1 0 "" NA18555 nsv508210 3 14621139 14734579 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620203 S 4 0 1 C3orf19,C3orf20 NA15510 nsv876577 3 14636880 14677355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581702 S 6533 0 1 C3orf19 IS35701 nsv527170 3 14657373 14661389 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703564 S 2026 1 0 "" nsv876578 3 14657373 14695795 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557454,nssv1548549 M 6533 1 1 C3orf19,C3orf20 MS17878,MS22705 esv33420 3 14698790 14699241 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99572 S 51 1 0 C3orf20 22217 nsv520162 3 14705461 14706263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661302,nssv677874 M 2026 0 2 C3orf20 nsv507082 3 14710728 14716728 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617594 S 4 1 0 C3orf20 CHM nsv876579 3 14773384 14883270 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548550 S 6533 1 0 C3orf20,FGD5 MS17878 nsv519602 3 14879451 14940470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696945 S 2026 0 1 FGD5 nsv460452 3 14884633 14922543 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537020 S 1557 0 1 FGD5 NINDS_78 dgv1436e1 3 14886274 15137707 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22874,esv748 M 271 0 0 FGD5,MRPS25,NR2C2,ZFYVE20 NA12760 nsv876580 3 14914683 15026132 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548551 S 6533 1 0 FGD5,NR2C2 MS17878 nsv834620 3 14928673 15109827 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442688 S 95 1 0 FGD5,MRPS25,NR2C2,ZFYVE20 essv17407 3 14933078 15026556 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FGD5,NR2C2 NA12760 nsv10252 3 14939303 14941093 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12068 S 31 1 0 Samples from several populations that are part of the HapMap project. FGD5 NA12155 nsv428413 3 15100121 15324518 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454214 S 62 1 0 CAPN7,COL6A4P1,SH3BP5,ZFYVE20 NA19113 nsv237085 3 15227125 15230390 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255663 M 24 CAPN7 nsv525308 3 15234869 15236389 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701415 S 2026 0 1 CAPN7 esv2548358 3 15268783 15269666 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194069 S 1 1 0 CAPN7 NA18507 esv273698 3 15269311 15269565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584105,essv2584411,essv2583316 M 7 3 0 Samples from several populations that are part of the HapMap project. CAPN7 NA19238,NA19239,NA19240 esv271990 3 15269311 15269584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540020,essv2556996,essv2551741,essv2532451,essv2562621,essv2569366,essv2578511,essv2550206,essv2539038,essv2569699,essv2527263,essv2566974,essv2542108,essv2569171,essv2543630,essv2556166,essv2528157,essv2562261,essv2539480,essv2534129,essv2529755,essv2575701,essv2575365,essv2538674,essv2526423,essv2560600,essv2560847,essv2574607,essv2530412,essv2572732,essv2568787,essv2560182,essv2548063,essv2571285,essv2546138,essv2574243,essv2551561 M 157 37 0 Samples from several populations that are part of the HapMap project. CAPN7 NA18489,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18519,NA18520,NA18522,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19141,NA19143,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv2113465 3 15288847 15289414 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667170 S 1 0 1 SH3BP5 NA18507 esv3951 3 15288991 15289266 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26392 S 1 0 1 Single Asian sample YH SH3BP5 YH nsv876581 3 15301531 15334823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548552 S 6533 1 0 SH3BP5 MS17878 nsv524536 3 15315751 15317854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700486 S 2026 0 1 SH3BP5 nsv834621 3 15340786 15525967 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442689 S 95 1 0 COLQ,EAF1,METTL6,MIR4270,SH3BP5 nsv522980 3 15357874 15364820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698650 S 2026 0 1 SH3BP5 nsv438390 3 15366898 15373051 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471228,nssv471230,nssv471229 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18582,NA18966,NA18990 esv1505705 3 15407377 15407471 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189182 S 2 0 1 "" HuRef nsv834622 3 15414318 15603594 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442690 S 95 1 0 COLQ,EAF1,HACL1,METTL6,MIR4270 nsv876582 3 15448768 15603675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548553 S 6533 1 0 COLQ,EAF1,HACL1,MIR4270 MS17878 nsv822003 3 15479042 15479501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429684 S 31 1 0 COLQ AK14 esv275345 3 15488073 15490699 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585403,essv2585467 M 1250 1 1 COLQ esv22123 3 15546604 15547598 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12591 S 451 2 0 "" NA11995,NA12156 esv2228566 3 15609001 15609559 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852750 S 1 0 1 HACL1 NA18507 nsv460453 3 15667963 15749829 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537021 S 1557 0 1 ANKRD28 1780862226_A nsv529014 3 15694283 15908745 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705725 S 2026 0 1 ANKRD28,MIR563 esv1000221 3 15754032 15754033 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572076 S 3 1 0 ANKRD28 HuRef esv1198390 3 15754034 15754034 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821741 S 2 1 0 ANKRD28 HuRef esv1552939 3 15759148 15759148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804006 S 2 1 0 ANKRD28 HuRef esv2481540 3 15819333 15822315 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372549 S 1 0 1 ANKRD28 NA18507 nsv819661 3 15819791 15821719 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419360 S 2 1 0 ANKRD28 AK1 dgv794n67 3 15820053 15821723 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822004,nsv822005 M 31 0 18 ANKRD28 AK10,AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18547,NA18552,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 nsv821318 3 15820053 15821723 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420312 S 1 0 1 ANKRD28 NA10851 esv23511 3 15820169 15821532 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20247 S 451 37 0 ANKRD28 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 esv6914 3 15820185 15821742 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29355 S 1 0 1 ANKRD28 SJK nsv876583 3 15896296 16063999 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548554 S 6533 1 0 "" MS17878 nsv876584 3 15923332 16029235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514033 S 6533 0 1 "" SP55886 nsv521108 3 15940493 15942654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682353,nssv683306,nssv686645,nssv686959 M 2026 0 4 "" nsv526018 3 15940493 15953959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702248 S 2026 0 1 "" esv1752589 3 16134156 16134288 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135080 S 2 0 1 "" HuRef nsv521442 3 16167147 16188684 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698052 S 2026 1 0 "" nsv517902 3 16174038 16175395 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695311 S 2026 1 0 "" dgv1437e1 3 16202432 16231043 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13401,esv955 M 271 0 0 GALNTL2 NA18872 nsv10253 3 16213419 16219753 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28823,nssv28691,nssv11953,nssv12683 M 31 0 4 Samples from several populations that are part of the HapMap project. GALNTL2 NA07029,NA18504,NA18972,NA19007 nsv515853 3 16213998 16216080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665017,nssv681223 M 2026 0 2 GALNTL2 esv2569616 3 16214088 16217128 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173429 S 1 0 1 GALNTL2 NA18507 esv22854 3 16214126 16216320 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14949 S 451 0 15 GALNTL2 NA06985,NA07037,NA11931,NA12044,NA12414,NA12489,NA12878,NA18505,NA18523,NA18858,NA18861,NA18907,NA18909,NA19108,NA19190 esv2300424 3 16214220 16216386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665339 S 1 0 1 GALNTL2 NA18507 dgv795n67 3 16214254 16215818 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822006,nsv822008 M 31 0 12 GALNTL2 AK10,AK18,AK2,AK20,AK4,AK6,NA18547,NA18564,NA18947,NA18949,NA18972,NA18997 esv3146 3 16214358 16216323 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25587 S 1 0 1 Single Asian sample YH GALNTL2 YH esv6463 3 16214415 16216214 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28904 S 1 0 1 GALNTL2 SJK dgv105e180 3 16214492 16216884 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996349,esv990201 M 3 0 1 GALNTL2 HuRef nsv822007 3 16214651 16215452 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434305 S 31 0 1 GALNTL2 NA18570 esv2421446 3 16215560 16216388 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5088983,essv5147337,essv5048859,essv5085267,essv5046360,essv5047542,essv5147671,essv5083208,essv5092036,essv5149911,essv5060799,essv5106392,essv5085622,essv5108819,essv5016247,essv5008202,essv5093850,essv5058874,essv5030589,essv5002297,essv5131183,essv5035877,essv5034186,essv5096069,essv5082577,essv5071804,essv5122360,essv5098828,essv5159367,essv5006687,essv5125538,essv5070333,essv5158517,essv5014140,essv5072012,essv5002747,essv5115304,essv5123138,essv5108391,essv5120694,essv5143046,essv5035208,essv5018481,essv5091981,essv5066325,essv5068639,essv5144858,essv5084139,essv5094669,essv5063348,essv5018799,essv5138752,essv5048030,essv5014003,essv5057083,essv5143195,essv5114896,essv5094548,essv5101699,essv5005610,essv5086586,essv5127461,essv5050807,essv5096756,essv5140902,essv5108314,essv5028903,essv5029784,essv5140605,essv5125493,essv5059328,essv5046403,essv5146918,essv5040542,essv5041945,essv5110399,essv5044081,essv5119170,essv5013827,essv5133950,essv5149845,essv5068485,essv5125080,essv5107973,essv5110458,essv5048017,essv5092888,essv5107319,essv5032668,essv5075788,essv5080004,essv5066494,essv5113428,essv5069034,essv5094843,essv5075042,essv5088014,essv5150120,essv5130318,essv5086778,essv5030279,essv5028803,essv5013211,essv5100448,essv5052014,essv5150223,essv5139559,essv5027838,essv5147939,essv5002788,essv5022847,essv5141822,essv5154193,essv5159833,essv5024164,essv5137363,essv5095558,essv5100646,essv5116021,essv5111625,essv5101243,essv5156076,essv5131778,essv5135109,essv5052707,essv5115429,essv5135828,essv5144918,essv5137660,essv5017287,essv5109247,essv5154577,essv5104593,essv5038415,essv5018438,essv5032577,essv5090567,essv5007108,essv5003535,essv5145255,essv5044973,essv5004774,essv5104615,essv5149290,essv5045481,essv5105956,essv5156045,essv5159804,essv5045014,essv5127789,essv5105757,essv5024242,essv5150303,essv5129090,essv5067576,essv5056123,essv5156925,essv5059265,essv5054578,essv5021584,essv5148681,essv5061585,essv5053431,essv5106207,essv5011414,essv5113635,essv5120174,essv5082892,essv5119210,essv5057826,essv5058092,essv5139913,essv5068643,essv5064375,essv5046334,essv5046170,essv5051713,essv5119823,essv5104675,essv5035380,essv5057108,essv5103743,essv5154943,essv5124473,essv5010125,essv5024771,essv5132952,essv5100441,essv5011581,essv5133982,essv5158159,essv5010260,essv5105068,essv5138228,essv5085795,essv5157570,essv5102770,essv5014545,essv5058876,essv5009021,essv5082939,essv5111422,essv5130845,essv5108361,essv5086185,essv5133329,essv5086624,essv5074035,essv5087088,essv5137565,essv5157223,essv5005005,essv5114605,essv5129998,essv5034002,essv5024966,essv5095186,essv5119345,essv5059125,essv5053165,essv5070474,essv5098446,essv5044514,essv5023294,essv5053672,essv5092741,essv5056421,essv5155958,essv5044739,essv5071423,essv5072548,essv5016799,essv5040967,essv5086978,essv5025912,essv5012693,essv5007501,essv5045467,essv5017604,essv5035242,essv5007919,essv5131363,essv5037629,essv5139936,essv5033909,essv5107634,essv5088810,essv5058825,essv5034120,essv5048013,essv5045705,essv5061243,essv5049855,essv5065466,essv5099523,essv5034806,essv5029654,essv5029247,essv5075750,essv5013839,essv5049204,essv5008085,essv5063244,essv5093777,essv5127277,essv5062112,essv5125383,essv5035178,essv5020063,essv5009841,essv5085380,essv5015780,essv5148833,essv5036171,essv5094307,essv5105283,essv5038886,essv5104295,essv5066635,essv5028909,essv5036305,essv5054961,essv5151074,essv5013484,essv5119156,essv5061677,essv5118674,essv5039940,essv5042642,essv5036159,essv5135762,essv5005864,essv5101791,essv5146875,essv5137337,essv5120043,essv5129798,essv5157941,essv5132854,essv5064801,essv5140658,essv5083666,essv5023643,essv5052703,essv5053141,essv5133306,essv5128282,essv5098643,essv5135298,essv5065162,essv5108338,essv5138361,essv5118004,essv5113857,essv5131267,essv5073647,essv5005525,essv5090679,essv5043466,essv5126354,essv5046174,essv5083717,essv5056161,essv5140389,essv5027876,essv5159261,essv5076084,essv5079909,essv5077640,essv5114870,essv5042204,essv5087126,essv5080762,essv5070568,essv5091808,essv5003718,essv5101246,essv5022583,essv5156432,essv5050782,essv5043985,essv5067900,essv5067390,essv5160244,essv5019980,essv5139085,essv5084528,essv5036039,essv5017660,essv5026229,essv5086785,essv5114697,essv5085185,essv5122229,essv5125537,essv5144148,essv5112141,essv5053273,essv5084365,essv5127103,essv5101085,essv5019050,essv5147515,essv5108398,essv5127534,essv5004804,essv5144239,essv5069995,essv5055489,essv5120332,essv5115453,essv5028213,essv5140633,essv5154277,essv5068465,essv5108664,essv5071034,essv5065746,essv5015282,essv5010137,essv5024894,essv5083430,essv5156728,essv5064226,essv5123699,essv5123838,essv5159680,essv5093171,essv5119804,essv5068769,essv5075397,essv5133109,essv5124964,essv5131951,essv5021099,essv5086028,essv5015856,essv5101279,essv5016047,essv5112397,essv5103596,essv5088378,essv5081471,essv5115776,essv5091638,essv5046404,essv5136726,essv5072589,essv5143893,essv5128047,essv5094757,essv5130919,essv5040776,essv5153950,essv5134706,essv5053189,essv5074166,essv5089047,essv5003461,essv5145469,essv5002668,essv5155142,essv5143613,essv5057799,essv5002013,essv5082729,essv5003105,essv5004756,essv5075254,essv5008673,essv5083793,essv5123044 M 1184 0 432 GALNTL2 NA06985,NA06995,NA07000,NA07014,NA07029,NA07037,NA07051,NA07055,NA07347,NA07435,NA10830,NA10854,NA10859,NA11840,NA11843,NA11881,NA11917,NA11920,NA11931,NA11994,NA12005,NA12043,NA12044,NA12144,NA12155,NA12234,NA12273,NA12275,NA12286,NA12340,NA12489,NA12707,NA12708,NA12716,NA12718,NA12751,NA12752,NA12760,NA12815,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12877,NA12878,NA12889,NA12890,NA12892,NA17962,NA17966,NA17970,NA17972,NA17975,NA17977,NA17981,NA17983,NA17986,NA17989,NA17990,NA18101,NA18105,NA18109,NA18112,NA18120,NA18122,NA18124,NA18140,NA18141,NA18143,NA18146,NA18147,NA18149,NA18151,NA18153,NA18157,NA18161,NA18162,NA18486,NA18497,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18511,NA18515,NA18516,NA18518,NA18519,NA18532,NA18536,NA18544,NA18545,NA18559,NA18564,NA18570,NA18571,NA18573,NA18576,NA18593,NA18603,NA18605,NA18610,NA18611,NA18612,NA18614,NA18618,NA18620,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18634,NA18635,NA18641,NA18642,NA18670,NA18674,NA18682,NA18696,NA18702,NA18740,NA18745,NA18747,NA18748,NA18853,NA18858,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18924,NA18933,NA18934,NA18940,NA18943,NA18944,NA18947,NA18949,NA18954,NA18957,NA18961,NA18962,NA18963,NA18964,NA18966,NA18967,NA18971,NA18972,NA18974,NA18976,NA18990,NA18994,NA18997,NA18998,NA19000,NA19007,NA19010,NA19031,NA19035,NA19054,NA19055,NA19057,NA19058,NA19062,NA19063,NA19064,NA19065,NA19067,NA19068,NA19072,NA19074,NA19076,NA19081,NA19083,NA19084,NA19085,NA19093,NA19095,NA19097,NA19107,NA19108,NA19109,NA19118,NA19119,NA19128,NA19129,NA19130,NA19132,NA19137,NA19143,NA19150,NA19160,NA19174,NA19179,NA19181,NA19183,NA19184,NA19185,NA19186,NA19190,NA19191,NA19193,NA19194,NA19198,NA19199,NA19201,NA19203,NA19204,NA19206,NA19210,NA19213,NA19215,NA19221,NA19222,NA19223,NA19236,NA19238,NA19256,NA19258,NA19309,NA19311,NA19315,NA19321,NA19327,NA19328,NA19359,NA19373,NA19374,NA19377,NA19381,NA19382,NA19383,NA19391,NA19429,NA19437,NA19440,NA19445,NA19446,NA19455,NA19456,NA19457,NA19468,NA19473,NA19474,NA19649,NA19650,NA19654,NA19657,NA19661,NA19662,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19704,NA19705,NA19719,NA19722,NA19723,NA19726,NA19749,NA19750,NA19751,NA19755,NA19759,NA19760,NA19761,NA19774,NA19776,NA19788,NA19790,NA19819,NA19828,NA19901,NA19904,NA19908,NA19914,NA19915,NA19917,NA19918,NA19921,NA19982,NA19983,NA20129,NA20297,NA20300,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20344,NA20345,NA20346,NA20349,NA20356,NA20358,NA20364,NA20504,NA20505,NA20508,NA20515,NA20517,NA20524,NA20529,NA20530,NA20535,NA20538,NA20539,NA20540,NA20541,NA20544,NA20582,NA20586,NA20588,NA20589,NA20753,NA20754,NA20755,NA20756,NA20758,NA20760,NA20761,NA20766,NA20768,NA20774,NA20783,NA20785,NA20787,NA20796,NA20797,NA20800,NA20802,NA20803,NA20804,NA20808,NA20809,NA20813,NA20818,NA20846,NA20853,NA20870,NA20871,NA20872,NA20881,NA20885,NA20891,NA20895,NA20897,NA20900,NA21086,NA21092,NA21098,NA21101,NA21103,NA21105,NA21112,NA21117,NA21137,NA21141,NA21300,NA21303,NA21307,NA21311,NA21314,NA21336,NA21355,NA21356,NA21363,NA21367,NA21368,NA21378,NA21382,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21399,NA21401,NA21402,NA21405,NA21408,NA21414,NA21415,NA21438,NA21451,NA21454,NA21457,NA21476,NA21477,NA21493,NA21510,NA21520,NA21614,NA21619,NA21631,NA21648,NA21678,NA21682,NA21683,NA21686,NA21689,NA21719,NA21733,NA21739,NA21776,NA21784,NA21825 nsv438391 3 16246804 16248562 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471231,nssv471232 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10846,NA12144 nsv236960 3 16249625 16251434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255538 M 24 "" nsv876585 3 16256503 16383493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548555 S 6533 1 0 DPH3,OXNAD1,RFTN1 MS17878 esv2637435 3 16325542 16326572 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294492 S 1 1 0 "" NA18507 nsv834623 3 16330424 16490568 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442691 S 95 1 0 RFTN1 esv7245 3 16394201 16394309 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29686 S 1 1 0 RFTN1 SJK nsv834625 3 16429298 16618136 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442692 S 95 1 0 DAZL,RFTN1 esv22139 3 16554907 16632474 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15991,esv14214,esv20309,esv15514 M 451 0 9 DAZL NA06985,NA11993,NA12004,NA12156,NA12287,NA12489,NA18508,NA19190,NA19225 dgv796n67 3 16555297 16618933 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822013,nsv822011,nsv822012,nsv822010 M 31 0 4 DAZL AK12,AK16,NA18951,NA18972 dgv797n67 3 16560710 16571013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822016,nsv822014 M 31 0 2 "" AK20,NA18949 nsv822015 3 16560710 16592402 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423264 S 31 0 1 "" NA18999 nsv822017 3 16566596 16571013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421585 S 31 0 1 "" NA18997 nsv876586 3 16571271 16642972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584553,nssv1567353 M 6533 0 2 DAZL IS31070,IS37065 nsv509814 3 16602744 16608744 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621547,nssv618569,nssv623895,nssv622021 M 4 0 4 DAZL CHM,NA10860,NA15510,NA18994 nsv822018 3 16610659 16612965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423265 S 31 0 1 DAZL NA18999 nsv822019 3 16610659 16615416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431939,nssv1425631 M 31 0 2 DAZL AK20,AK4 nsv822021 3 16611527 16612965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428154,nssv1426527,nssv1424081,nssv1438057,nssv1432720,nssv1427390,nssv1435762,nssv1440950,nssv1438714 M 31 0 9 DAZL AK10,AK6,AK8,NA18566,NA18582,NA18951,NA18969,NA18972,NA18973 dgv798n67 3 16614534 16615416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822022,nsv822023 M 31 0 12 DAZL AK2,AK8,NA18552,NA18564,NA18566,NA18947,NA18949,NA18968,NA18972,NA18973,NA18997,NA18999 esv997976 3 16614544 16615416 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586918 S 3 1 0 DAZL HuRef nsv822024 3 16614925 16615416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428155,nssv1424082,nssv1438829,nssv1424041,nssv1434979,nssv1439576,nssv1426528,nssv1440952 M 31 0 8 DAZL AK10,AK6,NA18537,NA18547,NA18582,NA18592,NA18942,NA18969 nsv822025 3 16614925 16615688 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429686,nssv1431202 M 31 0 2 DAZL AK14,AK18 nsv818128 3 16631335 16638687 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417145 S 112 0 1 "" NA18542 nsv3714 3 16639129 16671436 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5945 S 9 1 0 "" NA19129 nsv437690 3 16662041 16674562 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467571 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12801 nsv818129 3 16667935 16670344 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416040,nssv1416041 M 112 0 2 "" NA12801,NA12813 esv269261 3 16710710 16711048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493152,essv2507071 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18870 nsv509815 3 16715099 16721099 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618570 S 4 0 1 "" CHM nsv507083 3 16732453 16738453 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617595 S 4 1 0 "" CHM esv269579 3 16771056 16771194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510123,essv2495235,essv2503878,essv2513055 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11829,NA11992 nsv876587 3 16807832 16849092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562015 S 6533 0 1 "" MS25327 nsv460454 3 16826206 16849092 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537022 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00103 esv2424217 3 17079190 17080149 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202101 S 1 1 0 PLCL2 NA18507 nsv819815 3 17099092 17106758 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419838 S 2 0 1 PLCL2 AK1 esv1938401 3 17164989 17165517 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941702 S 1 0 1 "" NA18507 esv25026 3 17165029 17165847 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11102 S 451 2 0 "" NA18508,NA19108 esv1398151 3 17165177 17165270 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364692 S 2 0 1 "" HuRef nsv237263 3 17165179 17165255 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255841 M 24 "" dgv5113n71 3 17189074 17321359 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876589,nsv876588 M 6533 0 2 TBC1D5 IS31837,IS41924 dgv5114n71 3 17205888 17646996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876591,nsv876590 M 6533 0 2 TBC1D5 IS31179,IS33894 nsv820175 3 17213485 17214661 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419190 S 2 0 1 TBC1D5 AK1 dgv5115n71 3 17344317 17579967 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876593,nsv876592 M 6533 0 2 TBC1D5 IS31205,IS35145 nsv470439 3 17369619 17513925 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547079 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TBC1D5 HGDP00591 nsv3715 3 17489329 17553182 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1659,nssv5946 M 9 0 2 TBC1D5 NA19129,NA19240 nsv442855 3 17504952 17519017 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TBC1D5 esv25343 3 17515867 17520657 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19332 S 451 0 7 TBC1D5 NA18523,NA18861,NA18916,NA19147,NA19190,NA19225,NA19240 nsv498992 3 17515880 17520685 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585853 S 9 0 1 TBC1D5 nsv822026 3 17516000 17520821 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424083,nssv1434306,nssv1439577 M 31 0 3 TBC1D5 NA18537,NA18570,NA18582 nsv514139 3 17516200 17520648 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627572 S 1414 0 0 TBC1D5 esv2622635 3 17520342 17521165 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355768 S 1 1 0 TBC1D5 NA18507 esv22074 3 17695063 17700019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12509 S 451 0 2 TBC1D5 NA18861,NA19190 esv2583047 3 17705776 17707371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261632 S 1 0 1 TBC1D5 NA18507 esv2211188 3 17706508 17707214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839502 S 1 0 1 TBC1D5 NA18507 esv4814 3 17706613 17707068 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27255 S 1 0 1 Single Asian sample YH TBC1D5 YH esv6157 3 17706675 17707027 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28598 S 1 0 1 TBC1D5 SJK esv1204331 3 17721037 17721185 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851135 S 2 0 1 TBC1D5 HuRef esv1668575 3 17792506 17792506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014162 S 2 1 0 "" HuRef nsv822027 3 18083587 18084238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436479 S 31 0 1 "" NA18542 esv270301 3 18109170 18115296 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508645,essv2511689,essv2496018 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18592,NA18940,NA18961 nsv3716 3 18123733 18157226 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5947 S 9 1 0 "" NA19129 esv270353 3 18298237 18302429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515561 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv460455 3 18360736 18403454 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537023 S 1557 0 1 SATB1 NINDS_91 nsv517846 3 18552212 18609876 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695251 S 2026 1 0 "" nsv237035 3 18612678 18612678 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255613 M 24 "" esv1035864 3 18613225 18613225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725824 S 2 1 0 "" HuRef nsv876594 3 18622517 18754298 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548556 S 6533 1 0 "" MS17878 nsv518336 3 18676328 18681862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695765 S 2026 0 1 "" nsv522311 3 18676328 18690244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695091 S 2026 0 1 "" esv2489722 3 18730076 18731469 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353282 S 1 0 1 "" NA18507 esv2159419 3 18730632 18731347 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686079 S 1 0 1 "" NA18507 nsv834626 3 18771028 18905397 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442693 S 95 1 0 "" nsv237610 3 18796514 18796514 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256188 M 24 "" nsv236778 3 18796548 18796548 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255356 M 24 "" nsv507084 3 18802562 18808562 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622847,nssv617596 M 4 2 0 "" CHM,NA18994 esv1002099 3 18804123 18805970 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564840 S 3 1 0 "" HuRef esv1051768 3 18804480 18804480 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951871 S 2 1 0 "" HuRef esv1208304 3 18805275 18805275 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029863 S 2 1 0 "" HuRef nsv517847 3 18820351 19458699 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695252 S 2026 1 0 KCNH8,MIR4791 esv2643645 3 18842419 18844243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360505 S 1 0 1 "" NA18507 esv24771 3 18921009 18928298 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11224 S 451 8 1 "" NA07045,NA11993,NA12749,NA12828,NA12878,NA15510,NA18502,NA18858,NA19108 nsv821401 3 18921009 18928298 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420313 S 1 1 0 "" NA10851 nsv516520 3 18965360 18971361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687331,nssv671551,nssv668818 M 2026 0 3 "" esv271836 3 18970887 18970972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517050,essv2514782,essv2515673,essv2514445,essv2517669,essv2513590 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12234,NA12815,NA12874,NA12878 esv272768 3 18970887 18970972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581307 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2610614 3 19010116 19011121 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350147 S 1 1 0 "" NA18507 esv267384 3 19010420 19010766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514669,essv2516717,essv2519314,essv2517537,essv2516986,essv2514025,essv2518755,essv2514879,essv2515481,essv2514967,essv2516461,essv2515748,essv2516159,essv2514470,essv2517753,essv2517184,essv2519009,essv2513806,essv2518366,essv2519381,essv2513660 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA11894,NA11918,NA11931,NA12043,NA12045,NA12234,NA12249,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA18970,NA19141,NA19143,NA19240 esv272729 3 19010420 19010766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581580,essv2581187 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv989672 3 19010441 19010441 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566668 S 3 1 0 "" HuRef esv1554709 3 19010456 19010456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076194 S 2 1 0 "" HuRef nsv822028 3 19109700 19111980 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422494 S 31 0 1 "" NA18552 esv1965258 3 19196542 19196983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902390 S 1 0 1 KCNH8 NA18507 nsv524040 3 19241339 19244856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699904 S 2026 0 1 KCNH8 nsv3717 3 19480273 19512648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6996 S 9 1 0 KCNH8 NA12156 nsv876595 3 19487078 19701312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560830 S 6533 0 1 KCNH8 MS24729 nsv3718 3 19495856 19540673 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7773 S 9 0 1 KCNH8 NA12156 esv23068 3 19510657 20613505 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21063,esv13451,esv12939 M 451 2 1 EFHB,KAT2B,KCNH8,PP2D1,RAB5A,SGOL1 NA15510,NA19114,NA19147 nsv433358 3 19522188 19971512 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463239 S 9 1 0 EFHB,KCNH8,RAB5A NA15510 esv35078 3 19530275 20744740 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979125,essv6979124 M 771 1 0 EFHB,KAT2B,KCNH8,PP2D1,RAB5A,SGOL1 NA15510 nsv876596 3 19628391 19812591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545191,nssv1542424 M 6533 0 2 "" MS15780,MS16708 esv2477093 3 19663188 19664629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234241 S 1 0 1 "" NA18507 esv7771 3 19792428 19792507 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30212 S 1 1 0 "" SJK esv272522 3 19813111 19813301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580625,essv2579425 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv507085 3 19836330 19842330 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620756,nssv622848 M 4 2 0 "" NA15510,NA18994 nsv237606 3 19986449 19986548 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256184 M 24 RAB5A esv996397 3 19986528 19986627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574960 S 3 0 1 RAB5A HuRef esv1338718 3 19986551 19986651 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742553 S 2 0 1 RAB5A HuRef esv1572465 3 20035311 20035311 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296192 S 2 1 0 "" HuRef nsv834627 3 20043119 20202979 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442694 S 95 0 1 KAT2B,SGOL1 esv267763 3 20065499 20065584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514061,essv2518473 M 157 2 0 Samples from several populations that are part of the HapMap project. KAT2B NA12043,NA12287 nsv433359 3 20065912 20562576 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463240 S 9 1 0 KAT2B,SGOL1 NA15510 nsv470450 3 20071739 20364049 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547090 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KAT2B,SGOL1 HGDP00992 nsv3719 3 20108247 20125206 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7774 S 9 0 1 KAT2B NA12156 esv2422249 3 20138612 20601960 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161535 S 181 0 1 KAT2B,SGOL1 ND04502 nsv237514 3 20166017 20173747 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256092 M 24 KAT2B nsv876597 3 20172368 20217147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517340 S 6533 0 1 SGOL1 SP57266 esv2637952 3 20175099 20176586 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386138 S 1 0 1 "" NA18507 esv2107333 3 20175760 20176194 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758525 S 1 0 1 "" NA18507 dgv5116n71 3 20217147 20945046 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876599,nsv876598 M 6533 2 0 "" IS33529,SP53516 esv2005891 3 20224179 20224652 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901542 S 1 0 1 "" NA18507 dgv1438e1 3 20240591 20515632 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10346,esv427 M 271 0 0 "" NA18506 nsv834628 3 20240612 20399091 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442695 S 95 0 1 "" nsv876600 3 20248134 20649836 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524002 S 6533 0 1 "" SP54338 nsv3720 3 20269617 20300327 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2389 S 9 0 1 "" NA18555 nsv460456 3 20280236 20411497 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537024 S 1557 0 1 "" NINDS_216 nsv3722 3 20296092 20340792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1660,nssv7775,nssv3089,nssv5948 M 9 4 0 "" NA12156,NA18555,NA19129,NA19240 nsv508906 3 20316071 20323896 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623367 S 4 1 0 "" NA18994 esv1005584 3 20317551 20318664 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564399 S 3 1 0 "" HuRef nsv475236 3 20317693 20317984 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557911 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv499266 3 20317693 20317984 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586392 S 9 1 0 "" esv1002251 3 20339072 20345707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563575 S 3 0 1 "" HuRef dgv1439e1 3 20351254 20515632 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14612,essv16985,essv11255,essv14528,essv19520,essv13803 M 271 0 0 "" NA12864,NA19093,NA19144,NA19153,NA19202,NA19204 nsv428414 3 20351254 20515632 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454223,nssv454224,nssv454222,nssv454220 M 62 4 0 "" HGDP00449,HGDP00984,HGDP01093,NA19113 nsv3723 3 20382715 20427885 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7776 S 9 0 1 "" NA12156 nsv460457 3 20389234 20411497 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537025 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00930 esv995627 3 20399698 20409345 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563486 S 3 0 1 "" HuRef nsv522476 3 20411497 20418553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705841 S 2026 0 1 "" dgv5117n71 3 20416191 20468572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876601,nsv876602 M 6533 0 3 "" MS13206,MS15168,MS18503 nsv3724 3 20441519 20452176 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4599 S 9 1 0 "" NA12878 nsv460458 3 20455257 20488623 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537026 S 1557 0 1 "" NINDS_16 nsv460459 3 20455257 20580306 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537027 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01031 esv2165071 3 20467633 20468067 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797172 S 1 0 1 "" NA18507 nsv470461 3 20472338 20576134 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547101 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01031 nsv3725 3 20522478 20567757 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5949 S 9 0 1 "" NA19129 nsv435770 3 20537341 20543535 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465985 S 2 0 1 "" NA15510 nsv521811 3 20545377 20550990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694582 S 2026 0 1 "" nsv520062 3 20558678 20559358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660358,nssv662660,nssv671751 M 2026 0 3 "" esv271086 3 20587592 20587855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515965 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv876603 3 20601330 20702889 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548557 S 6533 1 0 "" MS17878 nsv460460 3 20613232 20693128 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537028 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00645 nsv525840 3 20618484 20619666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702033 S 2026 0 1 "" nsv507086 3 20618765 20624765 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621697,nssv617597,nssv620757 M 4 3 0 "" CHM,NA10860,NA15510 nsv876604 3 20621490 20685998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504592 S 6533 0 1 "" SP52656 nsv460462 3 20659827 20683255 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537030 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00786 nsv508907 3 20716329 20734001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619316 S 4 1 0 "" NA10860 nsv3726 3 20721814 20733850 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1661,nssv4600 M 9 2 0 "" NA12878,NA19240 nsv526758 3 20769179 20773218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703108 S 2026 0 1 "" nsv876605 3 20773218 20870746 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561852 S 6533 0 1 "" MS25255 nsv509816 3 20798808 20804808 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622022,nssv623896,nssv621548 M 4 0 3 "" NA10860,NA15510,NA18994 nsv834629 3 20853906 21032596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442697 S 95 0 1 "" esv26481 3 20870914 20872887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15448 S 451 0 2 "" NA12828,NA19108 esv1251658 3 20871251 20871251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065760 S 2 1 0 "" HuRef esv1274359 3 20871302 20871351 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109258 S 2 0 1 "" HuRef esv1512390 3 20871535 20871837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318407 S 2 0 1 "" HuRef esv1121001 3 20871841 20872009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040597 S 2 0 1 "" HuRef esv2011251 3 20920029 20920508 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597607 S 1 0 1 "" NA18507 esv3495 3 20920103 20920396 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25936 S 1 0 1 Single Asian sample YH "" YH esv987721 3 20920216 20920314 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567191 S 3 0 1 "" HuRef esv33755 3 20920301 20920416 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98707,essv97204 M 51 0 2 "" 21606,22075 nsv876606 3 20932855 21024239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582071 S 6533 0 1 "" IS35788 esv33382 3 20946175 20946351 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99878 S 51 0 1 "" 22086 nsv876607 3 20947479 21062223 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548558 S 6533 1 0 "" MS17878 nsv508211 3 20948375 21000548 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622453 S 4 0 1 "" NA18994 nsv876608 3 20983714 21178052 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550970 S 6533 1 0 "" MS18694 esv2422219 3 21039897 21195101 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161557 S 181 1 0 "" ND03710 nsv460463 3 21058100 21154336 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537031 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv470472 3 21062223 21154336 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547112 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv528558 3 21081660 21226323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705173 S 2026 1 0 "" nsv3727 3 21110003 21154577 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4663 S 9 0 1 "" NA19129 dgv1440e1 3 21180674 21351652 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1411,essv19877 M 271 0 0 "" NA11881 esv2473284 3 21182019 21182131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335123 S 1 0 1 "" NA18507 nsv516562 3 21197769 21320643 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653131,nssv691963,nssv692472,nssv670349,nssv652872,nssv682375,nssv684301 M 2026 7 0 "" esv35115 3 21216660 21353743 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978130,essv6978129,essv6986552 M 771 1 0 "" NA11881 dgv598n27 3 21232313 21320643 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460468,nsv460465,nsv460467,nsv460466,nsv460469 M 1557 5 0 "" HGDP00729,HGDP01063,HGDP01067,NINDS_21,NINDS_96 nsv818130 3 21232313 21320643 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418050 S 112 1 0 "" NA11881 nsv470483 3 21232313 21320644 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547123 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00695 esv33585 3 21233259 21310830 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97298,essv99274 M 51 2 0 "" 21879,22275 esv2751991 3 21239774 21318600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981978,essv6981977 M 771 1 0 "" BEC_51 nsv834630 3 21286623 21466331 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442700,nssv1442698,nssv1442701,nssv1442699 M 95 0 4 VENTXP7,ZNF385D dgv5118n71 3 21312960 21399989 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876610,nsv876609 M 6533 2 0 "" MS14940,SP51165 nsv876611 3 21340938 21389064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571148 S 6533 0 1 "" IS32615 esv269064 3 21409858 21409988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494622,essv2497233,essv2507832,essv2511328 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18550,NA18552,NA18564,NA18570 esv2622490 3 21431926 21433638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251364 S 1 0 1 "" NA18507 esv1989357 3 21432310 21433020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942119 S 1 0 1 "" NA18507 esv5950 3 21432493 21432825 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28391 S 1 0 1 "" SJK esv2511303 3 21432502 21432824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349566 S 1 0 1 "" NA18507 nsv238000 3 21432538 21440813 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256578 M 24 ZNF385D nsv822029 3 21465125 21465627 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424871 S 31 1 0 ZNF385D AK2 nsv522577 3 21479741 21480484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705964 S 2026 0 1 ZNF385D esv271111 3 21552505 21552644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565766,essv2571763,essv2536740,essv2543892,essv2570766,essv2523409,essv2576764,essv2547386,essv2530630,essv2557453,essv2532378,essv2569418,essv2536980,essv2539164,essv2569888,essv2563711,essv2555528,essv2566654,essv2525695,essv2526720,essv2572720,essv2547973,essv2563319 M 157 23 0 Samples from several populations that are part of the HapMap project. ZNF385D NA07347,NA10847,NA11829,NA11840,NA11920,NA11992,NA11993,NA12004,NA12154,NA12717,NA12873,NA18499,NA18505,NA18508,NA18517,NA18519,NA18593,NA18603,NA18945,NA18948,NA18980,NA19114,NA19143 nsv834631 3 21587287 21738891 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442702 S 95 1 0 ZNF385D nsv876612 3 21616961 21648604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503799 S 6533 1 0 ZNF385D SP52113 esv21508 3 21686857 21687517 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9764 S 451 1 0 ZNF385D NA12749 nsv527771 3 21691239 21701367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704260 S 2026 0 1 ZNF385D esv5738 3 21698712 21700978 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28179 S 1 0 1 ZNF385D SJK esv28084 3 21698730 21700965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12198 S 451 0 5 ZNF385D NA11931,NA12749,NA12776,NA12878,NA18916 dgv799n67 3 21698802 21700836 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822030,nsv822033 M 31 0 10 ZNF385D AK6,AK8,NA18537,NA18547,NA18552,NA18570,NA18592,NA18942,NA18951,NA18968 nsv514140 3 21698992 21700750 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627573 S 1414 0 1 ZNF385D esv2751992 3 21761897 22187361 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988734,essv6987453,essv6983943 M 771 1 0 ZNF385D BEC_736 esv23846 3 21768031 21770823 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15440 S 451 1 0 "" NA12156 nsv876613 3 21769178 21800251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548921,nssv1559564,nssv1543930 M 6533 0 3 "" MS16164,MS17913,MS24032 esv269811 3 21775853 21776572 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540082,essv2552508,essv2532054,essv2550045,essv2558842,essv2569718,essv2566849,essv2543437,essv2528140,essv2529656,essv2524287,essv2530189,essv2551204 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18502,NA18505,NA18511,NA18516,NA18520,NA18853,NA18870,NA18907,NA19093,NA19129,NA19141,NA19257 nsv834632 3 21778945 21949086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442703 S 95 1 0 "" nsv470494 3 21814875 21847197 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547135 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 esv2067003 3 21881314 21881744 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4609117 S 1 0 1 "" NA18507 nsv834633 3 21893268 22063342 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442704 S 95 0 1 "" nsv876614 3 21894043 21969026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591799 S 6533 0 1 "" IS39026 nsv876615 3 21916263 21941003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542795,nssv1534862,nssv1540847,nssv1562772 M 6533 0 4 "" MS11750,MS15060,MS15905,MS25745 dgv5119n71 3 21921851 22285626 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876617,nsv876616 M 6533 0 2 "" MS15714,MS17527 nsv460473 3 21951417 21960421 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537038 S 1557 0 1 "" NINDS_46 esv27247 3 21972846 21977493 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20823 S 451 1 0 "" NA18502 dgv800n67 3 21974646 21975616 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822034,nsv822035 M 31 2 0 "" AK14,NA18582 nsv876618 3 21980078 22032222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584228 S 6533 0 1 "" IS36910 nsv876619 3 22017515 22085446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567641 S 6533 0 1 "" IS31137 nsv525096 3 22032222 22151585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701155 S 2026 0 1 "" nsv460475 3 22038506 22119073 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537039 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01232 nsv508212 3 22051780 22075123 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620205,nssv622454 M 4 0 2 "" NA15510,NA18994 nsv3728 3 22052854 22108203 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9616,nssv2390,nssv5950,nssv4601 M 9 0 4 "" NA12878,NA18507,NA18555,NA19129 dgv1441e1 3 22052897 22231873 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6119,essv6008,essv6650,essv4191,essv14754,esv164,essv7302,essv3517 M 271 0 0 "" NA18526,NA18532,NA18571,NA18592,NA18608,NA18965,NA19159 nsv428415 3 22052897 22231873 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454231 S 62 0 1 "" HGDP00476 esv29935 3 22053048 22067348 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12344 S 451 0 1 "" NA18505 nsv438392 3 22058240 22060813 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471233,nssv471234 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505 esv1011189 3 22064677 22073913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565469 S 3 0 1 "" HuRef esv2428999 3 22066567 22073400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386836 S 1 0 1 "" NA18507 dgv76n16 3 22066947 22073458 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436369,nsv435766 M 2 0 2 "" NA15510,NA18505 esv1963566 3 22067163 22073003 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956557 S 1 0 1 "" NA18507 nsv513036 3 22067297 22073158 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626518 S 1 0 1 "" 1 esv4282 3 22067336 22072897 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26723 S 1 0 1 Single Asian sample YH "" YH dgv37n47 3 22067351 22072814 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv498993,nsv498994 M 9 0 2 "" esv8352 3 22067365 22072799 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30793 S 1 0 1 "" SJK esv1182290 3 22067365 22072813 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069795 S 2 0 1 "" HuRef esv2599905 3 22076652 22078216 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290697 S 1 0 1 "" NA18507 nsv876620 3 22079068 22127890 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548559 S 6533 1 0 "" MS17878 nsv521942 3 22098068 22114503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694710 S 2026 0 1 "" nsv516395 3 22108269 22112444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688385,nssv668018 M 2026 0 2 "" nsv876621 3 22122711 22203581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567178 S 6533 0 1 "" IS31046 nsv519136 3 22150071 22157028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696614 S 2026 0 1 "" nsv460476 3 22157028 22181836 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537040 S 1557 0 1 "" NINDS_214 nsv515836 3 22182037 22204501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693750,nssv660630,nssv664953,nssv697669,nssv668180,nssv690218,nssv669407 M 2026 0 7 "" esv267645 3 22192536 22192714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512559,essv2494812,essv2509053,essv2495623,essv2511991,essv2501952,essv2498233 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18519,NA18522,NA18916,NA19238,NA19239,NA19240 esv274489 3 22192548 22192901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579317 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv876622 3 22243421 22323148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558736 S 6533 0 1 "" MS23531 nsv3729 3 22245383 22263327 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1663 S 9 0 1 "" NA19240 nsv528001 3 22253501 22268613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704526 S 2026 0 1 "" nsv498995 3 22254332 22261422 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585856 S 9 0 1 "" esv29413 3 22254443 22261402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10824 S 451 0 1 "" NA19240 nsv822036 3 22255385 22261381 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421588,nssv1435765 M 31 0 2 "" NA18566,NA18997 nsv514141 3 22255584 22261352 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627574 S 1414 0 1 "" esv33430 3 22255614 22261196 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100929,essv92805,essv98564,essv99945,essv97720 M 51 0 5 "" 21693,21944,22085,22086,22278 nsv526011 3 22312035 22313296 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702239 S 2026 0 1 "" nsv438393 3 22323148 22338890 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471237,nssv471236 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18912,NA18914 nsv834634 3 22395057 22549025 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442705 S 95 1 0 "" esv2027009 3 22395599 22395986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599036 S 1 0 1 "" NA18507 nsv526662 3 22401922 22416265 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702990 S 2026 0 1 "" nsv237602 3 22441562 22441562 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256180 M 24 "" nsv876623 3 22448733 22546900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554686 S 6533 1 0 "" MS20888 nsv518047 3 22478902 22479139 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695458 S 2026 0 1 "" nsv507087 3 22489886 22495886 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621698,nssv622850 M 4 2 0 "" NA10860,NA18994 nsv3730 3 22517734 22562429 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5951 S 9 0 1 "" NA19129 esv2751995 3 22526009 22575200 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989254,essv6987996 M 771 0 1 "" BEC_312 nsv470505 3 22540247 22584533 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547146 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00653 nsv525062 3 22546900 22584533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701114 S 2026 0 1 "" nsv460478 3 22573362 22577022 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537041 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00653 nsv515699 3 22606597 22615652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669513,nssv666789,nssv670485,nssv684279,nssv664458,nssv682605 M 2026 0 6 "" nsv528981 3 22615652 22619924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705680 S 2026 0 1 "" esv26051 3 22695786 22699400 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17419 S 451 4 0 "" NA06985,NA12828,NA18907,NA19257 nsv822037 3 22698933 22699527 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439579 S 31 1 0 "" NA18537 nsv522799 3 22779841 22840351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698444 S 2026 0 1 "" esv270909 3 22861659 22861984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498291,essv2512954,essv2504495,essv2511338,essv2509961,essv2511618,essv2504972,essv2495108 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18547,NA18563,NA18570,NA18593,NA18940,NA18942,NA18964 esv2602545 3 22882359 22886978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212630 S 1 0 1 "" NA18507 esv1944062 3 22882363 22886093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903596 S 1 0 1 "" NA18507 nsv436397 3 22882481 22888960 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465988 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28611 3 22882538 22885861 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12757 S 451 0 2 "" NA18505,NA18508 esv2269665 3 22886501 22886928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705339 S 1 0 1 "" NA18507 esv29098 3 22916527 22921892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16397 S 451 0 2 "" NA19099,NA19257 esv2611846 3 22938123 22939614 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362134 S 1 0 1 "" NA18507 nsv522927 3 22998578 23001892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698589 S 2026 0 1 "" nsv517473 3 23006898 23007344 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670719,nssv700934,nssv664828,nssv678277,nssv672355,nssv666763,nssv653340,nssv682269,nssv678438,nssv652121,nssv655369,nssv652940,nssv687159,nssv656899,nssv682239,nssv655012 M 2026 1 15 "" nsv520551 3 23090295 23095064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697481 S 2026 0 1 "" esv2633513 3 23110526 23111534 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356695 S 1 1 0 "" NA18507 nsv834636 3 23113657 23276447 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442706,nssv1442708 M 95 1 1 UBE2E2 nsv522651 3 23156561 23163047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706051 S 2026 0 1 "" esv1257777 3 23170532 23170532 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956332 S 2 1 0 "" HuRef nsv3731 3 23189765 23223594 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7777 S 9 1 0 UBE2E2 NA12156 esv270258 3 23273133 23273246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576340,essv2563083,essv2542976,essv2534518,essv2565922,essv2563254 M 157 6 0 Samples from several populations that are part of the HapMap project. UBE2E2 NA10847,NA12814,NA18532,NA18550,NA18561,NA18572 nsv876624 3 23360881 23458540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571648 S 6533 0 1 UBE2E2 IS32766 nsv876625 3 23365305 23484601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548560 S 6533 1 0 UBE2E2 MS17878 nsv236860 3 23417138 23420641 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255438 M 24 UBE2E2 esv25457 3 23489002 23493661 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13700 S 451 0 3 UBE2E2 NA18523,NA18858,NA18861 esv268283 3 23489955 23490040 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519196 S 157 1 0 Samples from several populations that are part of the HapMap project. UBE2E2 NA11894 nsv526739 3 23496208 23497221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703082 S 2026 0 1 UBE2E2 nsv460479 3 23601923 23782554 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537042 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UBE2E2 HGDP00543 nsv470516 3 23639706 23777650 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547157 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543 esv1210227 3 23660512 23660512 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195010 S 2 1 0 "" HuRef nsv834637 3 23678932 23861148 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442709 S 95 0 1 UBE2E1 nsv520934 3 23734243 23745137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697696 S 2026 0 1 "" esv2599588 3 23738818 23740316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214330 S 1 0 1 "" NA18507 esv2064824 3 23738860 23739578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671521 S 1 0 1 "" NA18507 esv1002643 3 23739066 23739395 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585738 S 3 0 1 "" HuRef esv1023350 3 23739077 23739407 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256797 S 2 0 1 "" HuRef nsv238011 3 23739078 23739407 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256589 M 24 "" esv7250 3 23739079 23739394 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29691 S 1 0 1 "" SJK nsv834638 3 23938864 24092195 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442710 S 95 0 1 NR1D2 nsv834639 3 24012117 24208929 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442711 S 95 1 0 LOC152024,THRB esv2527637 3 24065227 24066672 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192289 S 1 0 1 "" NA18507 esv2357667 3 24065609 24066261 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907938 S 1 0 1 "" NA18507 esv4063 3 24065772 24066126 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26504 S 1 0 1 Single Asian sample YH "" YH esv9492 3 24065775 24066052 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31933 S 1 0 1 "" SJK nsv441813 3 24083075 24089943 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818131 3 24084116 24088701 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417446 S 112 0 1 "" NA18953 nsv526740 3 24118277 24118501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703083 S 2026 0 1 LOC152024 nsv3733 3 24191581 24236753 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7780 S 9 0 1 THRB NA12156 nsv524922 3 24240146 24242043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700935 S 2026 0 1 THRB nsv876626 3 24256492 24302135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557068 S 6533 0 1 THRB MS22353 nsv527561 3 24260772 24288510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704022 S 2026 0 1 THRB dgv278n21 3 24267829 24274509 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519524,nsv521447 M 2026 0 2 THRB nsv528341 3 24267829 24274509 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704923 S 2026 1 0 THRB esv2288146 3 24280858 24281280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851915 S 1 0 1 THRB NA18507 nsv834640 3 24314783 24468609 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442712 S 95 1 0 THRB esv7101 3 24317131 24318174 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29542 S 1 0 1 THRB SJK esv271750 3 24323744 24324094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504461,essv2508088,essv2495893,essv2493419,essv2496607,essv2511732,essv2493625,essv2494640,essv2508267,essv2507932,essv2512847,essv2504915,essv2503540,essv2506899,essv2499065 M 157 15 0 Samples from several populations that are part of the HapMap project. THRB NA11993,NA12045,NA12489,NA12763,NA18486,NA18499,NA18517,NA18519,NA18561,NA18564,NA18609,NA18942,NA18947,NA19102,NA19114 nsv522159 3 24337256 24340665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694933 S 2026 0 1 THRB nsv507088 3 24353586 24359586 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617598 S 4 1 0 THRB CHM dgv74n68 3 24440866 24615597 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834642,nsv834641 M 95 3 0 MIR4792,THRB nsv520648 3 24462470 24462634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697536 S 2026 0 1 THRB dgv1442e1 3 24627517 24917930 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv606,essv4819 M 271 0 0 "" NA18620 esv268195 3 24628494 24628866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500056,essv2500667,essv2508138,essv2503122,essv2497931,essv2512390,essv2509387,essv2500578 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18558,NA18571,NA18579,NA18943,NA18945,NA18949,NA18953,NA18956 nsv10254 3 24636745 24641300 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28894,nssv28731 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA11830 essv7683 3 24700007 24788964 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18620 nsv876627 3 24719508 24799306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499232,nssv1511336,nssv1517159 M 6533 0 3 "" SP50528,SP55021,SP57199 esv34635 3 24721300 24788964 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988232,essv6979735,essv6979736,essv6989115 M 771 0 1 "" NA18620 nsv460480 3 24721382 24791978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537043 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01095 nsv470527 3 24721382 24791978 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547168 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01227 esv269460 3 24747317 24747661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494186,essv2494763,essv2507256,essv2495933,essv2504676,essv2510912,essv2501975,essv2498167 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18519,NA18870,NA18961,NA19099,NA19116,NA19239,NA19240 esv272513 3 24747351 24747656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578975 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv460481 3 24748699 24788964 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537044 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01227 nsv437325 3 24753694 24765839 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467206 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv876628 3 24753694 24788964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552212 S 6533 0 1 "" MS19289 nsv834643 3 24754631 24917890 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442716 S 95 1 0 "" esv2519068 3 24755193 24761081 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259868 S 1 0 1 "" NA18507 esv2350467 3 24755743 24760809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685397 S 1 0 1 "" NA18507 nsv516980 3 24755994 24757243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667093,nssv685819,nssv661497,nssv684938,nssv656656,nssv677279,nssv670486,nssv691120,nssv663489,nssv653546,nssv658641,nssv692713,nssv691390 M 2026 0 13 "" esv25679 3 24756384 24760619 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18823 S 451 0 1 "" NA18523 nsv876629 3 24788964 24850088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556804 S 6533 1 0 "" MS22179 esv4167 3 24794440 24794902 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26608 S 1 0 1 Single Asian sample YH "" YH esv7789 3 24794533 24794842 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30230 S 1 0 1 "" SJK nsv10255 3 24804250 24807562 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11983 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv2430362 3 24823641 24825146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174089 S 1 0 1 "" NA18507 esv2636017 3 24836389 24837841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217074 S 1 0 1 "" NA18507 nsv3734 3 24836572 24881870 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7781 S 9 0 1 "" NA12156 nsv876630 3 24886921 25041715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546065 S 6533 0 1 "" MS17114 nsv236994 3 24893859 24894705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255572 M 24 "" nsv834644 3 24911991 25087614 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442717 S 95 0 1 "" nsv460482 3 24941772 25046620 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537045 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00884 esv994551 3 24960627 24965942 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564099 S 3 1 0 "" HuRef esv273069 3 24962839 24962924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581402 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv513037 3 25004991 25007398 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626519 S 1 0 1 "" 1 esv2497933 3 25005014 25007952 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248775 S 1 0 1 "" NA18507 esv2242313 3 25005707 25007438 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926411 S 1 0 1 "" NA18507 nsv821232 3 25005809 25008365 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420315 S 1 0 1 "" NA10851 nsv822038 3 25005809 25008365 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438852,nssv1428156,nssv1424864,nssv1438059,nssv1424087,nssv1423267,nssv1427393,nssv1422498,nssv1425633,nssv1428941,nssv1440253 M 31 0 11 "" AK10,AK12,AK4,AK8,NA18547,NA18552,NA18564,NA18582,NA18951,NA18968,NA18999 esv26458 3 25005839 25007210 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10433 S 451 5 10 "" NA07037,NA11993,NA12004,NA12006,NA12414,NA12489,NA12749,NA15510,NA18502,NA18523,NA18858,NA18916,NA19099,NA19108,NA19114 esv5424 3 25005845 25007319 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27865 S 1 0 1 Single Asian sample YH "" YH esv8836 3 25005880 25007254 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31277 S 1 0 1 "" SJK nsv822039 3 25005923 25007304 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431203,nssv1425200,nssv1429688,nssv1436480,nssv1432722,nssv1438716,nssv1424872,nssv1426507,nssv1434981,nssv1431940,nssv1426532,nssv1440953,nssv1435766,nssv1439580 M 31 3 11 "" AK14,AK18,AK2,AK20,AK6,NA18537,NA18542,NA18566,NA18592,NA18942,NA18947,NA18969,NA18972,NA18973 esv2260027 3 25147171 25147672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593370 S 1 0 1 "" NA18507 nsv237528 3 25147424 25147502 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256106 M 24 "" nsv876631 3 25160452 25206575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503643 S 6533 0 1 "" SP52093 nsv508213 3 25181154 25301200 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618710 S 4 0 1 "" NA10860 esv274063 3 25253424 25253671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580535,essv2579190,essv2579452 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268481 3 25253434 25253762 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545292,essv2521494,essv2550423,essv2534990,essv2520114,essv2537483,essv2546953,essv2527294,essv2519561,essv2528935,essv2551177,essv2527983,essv2533929,essv2531326,essv2525683,essv2538628,essv2524256,essv2560311,essv2549829,essv2545970,essv2574523,essv2533256,essv2547773,essv2558038 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA10851,NA12003,NA12144,NA12234,NA12249,NA12815,NA12878,NA12892,NA18522,NA18566,NA18579,NA18858,NA18907,NA18916,NA18961,NA18980,NA19108,NA19129,NA19190,NA19225,NA19239,NA19240 esv1074268 3 25266397 25266397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165002 S 2 1 0 "" HuRef nsv876632 3 25300483 25341209 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548561 S 6533 1 0 "" MS17878 nsv834645 3 25338727 25530111 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442719 S 95 1 0 RARB esv272476 3 25364806 25365196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579202,essv2579801 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271814 3 25364877 25365210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571795,essv2542440,essv2536685,essv2522803,essv2545414,essv2535072,essv2547496,essv2520155,essv2554855,essv2540154,essv2557273,essv2532268,essv2537065,essv2569806,essv2527124,essv2541239,essv2549280,essv2556224,essv2555508,essv2534393,essv2571932,essv2575562,essv2545825 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11919,NA11920,NA11931,NA12003,NA12249,NA12717,NA12815,NA12872,NA18489,NA18499,NA18505,NA18517,NA18520,NA18522,NA18545,NA18564,NA18871,NA18945,NA18959,NA18973,NA19099,NA19239 nsv524030 3 25425947 25428185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699893 S 2026 0 1 "" nsv528608 3 25465973 25468182 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705234 S 2026 1 0 RARB nsv3735 3 25563303 25608024 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7782 S 9 0 1 RARB NA12156 nsv528280 3 25583580 25599638 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704850 S 2026 1 0 RARB esv271475 3 25643887 25644223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515403 S 157 1 0 Samples from several populations that are part of the HapMap project. TOP2B NA12249 nsv507089 3 25664901 25670901 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617599 S 4 1 0 TOP2B CHM esv275149 3 25713225 25721029 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585458,essv2585903 M 1250 1 1 "" nsv3736 3 25768838 25801683 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6997 S 9 1 0 NGLY1 NA12156 nsv876633 3 25794632 26612410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527526 S 6533 1 0 LOC285326,NGLY1,OXSM SP58505 dgv71n17 3 25802546 25832974 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437326,nsv437327 M 60 0 2 NGLY1,OXSM NA19142,NA19211 esv28411 3 25825024 25830062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13260 S 451 0 2 "" NA18508,NA19190 esv2421384 3 25825784 25829901 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121051,essv5010271,essv5147535,essv5010884,essv5087145,essv5038815,essv5156632,essv5027116,essv5152909,essv5151504,essv5156800,essv5063322,essv5026452,essv5043330,essv5088720,essv5080115,essv5052143,essv5054890,essv5150349 M 1184 0 19 "" NA18508,NA18868,NA18934,NA18935,NA19138,NA19152,NA19175,NA19190,NA19191,NA19319,NA19700,NA19702,NA19904,NA21333,NA21405,NA21424,NA21425,NA21473,NA21529 nsv441814 3 25825784 25829901 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv876634 3 25937362 26071126 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548562 S 6533 1 0 "" MS17878 nsv3737 3 25976758 25991724 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5952 S 9 1 0 "" NA19129 dgv5120n71 3 25997984 26317796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876635,nsv876636 M 6533 0 2 "" IS40017,MS17306 nsv834647 3 26008363 26214700 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442720 S 95 1 0 "" nsv834648 3 26011987 26134875 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442721 S 95 1 0 "" nsv517542 3 26021365 26121049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668108,nssv684535,nssv652313 M 2026 0 3 "" nsv818132 3 26021365 26121049 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417272 S 112 0 1 "" NA12234 dgv1443e1 3 26021365 26194166 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19862,essv18623,esv761 M 271 0 0 "" NA12234 nsv876637 3 26051717 26506617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504027 S 6533 1 0 "" SP52161 nsv876638 3 26062861 26323931 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566206 S 6533 1 0 "" IS30609 nsv3738 3 26083878 26128210 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2391 S 9 0 1 "" NA18555 esv4870 3 26098822 26099124 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27311 S 1 0 1 Single Asian sample YH "" YH dgv114n6 3 26098852 26098980 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236575,nsv237637 M 24 "" nsv3739 3 26101818 26132432 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10336 S 9 1 0 "" NA18956 nsv10256 3 26187851 26195969 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11802 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv267606 3 26223665 26223818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495463,essv2504474,essv2499362,essv2502339,essv2512414,essv2510375,essv2495840,essv2503420,essv2502550,essv2507706,essv2498331,essv2501608,essv2511623,essv2495118,essv2503619,essv2495801,essv2495072,essv2499595,essv2513128 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07357,NA10847,NA11919,NA11993,NA11994,NA12004,NA12043,NA12414,NA12489,NA12716,NA12750,NA12751,NA18526,NA18608,NA18940,NA18964 nsv3740 3 26227976 26273026 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7783 S 9 0 1 "" NA12156 esv2751997 3 26286100 26398500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984547,essv6987618 M 771 1 0 "" BEC_717 esv2632437 3 26332263 26334476 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182543 S 1 0 0 "" NA18507 nsv876639 3 26333005 26407350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516611 S 6533 0 1 "" SP56878 nsv3741 3 26398843 26427766 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6998,nssv1664 M 9 0 2 "" NA12156,NA19240 esv22184 3 26400789 26414464 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19854,esv11255 M 451 32 1 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240 nsv820105 3 26404342 26420958 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418663 S 2 1 0 "" AK1 nsv820408 3 26407277 26414653 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420316 S 1 0 1 "" NA10851 esv2421744 3 26407350 26414475 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117151,essv5009122,essv5070269,essv5156589,essv5012503,essv5118502,essv5108431,essv5037325,essv5006759,essv5138740,essv5020845,essv5139995,essv5073356,essv5047173,essv5007285,essv5037608,essv5043516,essv5045079,essv5094787,essv5154136,essv5021817,essv5042780,essv5029816,essv5106555,essv5120779,essv5051705,essv5090731,essv5076205,essv5068212,essv5012506,essv5071543,essv5144976,essv5155074,essv5141085,essv5044850,essv5129608,essv5159166,essv5100747,essv5009781,essv5155775,essv5149064,essv5044250,essv5089635,essv5041217,essv5131625,essv5134178,essv5107444,essv5157587,essv5057104,essv5098663,essv5063224,essv5079497,essv5081654,essv5079205,essv5030746,essv5128461,essv5124082,essv5068215,essv5067194,essv5022284,essv5110394,essv5097638,essv5147236,essv5076998,essv5140408,essv5102837,essv5153193,essv5146165,essv5063083,essv5137890,essv5116097,essv5094974,essv5048537,essv5093671,essv5151801,essv5008744,essv5145530,essv5042936,essv5109695,essv5084039,essv5003895,essv5125853,essv5161022 M 1184 0 83 "" NA06985,NA06991,NA06993,NA07014,NA07031,NA07051,NA07055,NA07056,NA07346,NA07349,NA10831,NA10837,NA10850,NA10853,NA10854,NA10856,NA10863,NA11830,NA11840,NA11918,NA12044,NA12056,NA12156,NA12234,NA12273,NA12336,NA12342,NA12344,NA12347,NA12753,NA12763,NA12830,NA18943,NA19114,NA19257,NA19651,NA19653,NA19658,NA19659,NA19708,NA19749,NA20319,NA20347,NA20348,NA20359,NA20360,NA20517,NA20524,NA20543,NA20586,NA20752,NA20754,NA20756,NA20765,NA20774,NA20778,NA20783,NA20795,NA20801,NA20808,NA20819,NA20826,NA20898,NA21113,NA21137,NA21308,NA21309,NA21313,NA21333,NA21362,NA21457,NA21475,NA21477,NA21485,NA21487,NA21488,NA21490,NA21510,NA21517,NA21520,NA21614,NA21683,NA21784 nsv433310 3 26407350 26414475 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463191 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 nsv822040 3 26408161 26414653 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421589,nssv1428157,nssv1424873,nssv1422499,nssv1433548,nssv1438717,nssv1430470,nssv1437345,nssv1436481,nssv1435767,nssv1423268,nssv1431942 M 31 0 12 "" AK10,AK16,AK2,AK20,NA18526,NA18542,NA18552,NA18566,NA18949,NA18973,NA18997,NA18999 nsv514142 3 26409108 26414364 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627575 S 1414 0 0 "" nsv442856 3 26409128 26414347 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2593817 3 26414170 26421395 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245879 S 1 0 1 "" NA18507 esv2025206 3 26414317 26420727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698112 S 1 0 1 "" NA18507 nsv436377 3 26414510 26420515 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465989 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv237933 3 26414511 26420552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256511 M 24 "" nsv513038 3 26425642 26427304 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626520 S 1 0 1 "" 1 nsv822041 3 26425822 26427261 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436482,nssv1433549,nssv1421590,nssv1424875,nssv1432723,nssv1424088,nssv1438060,nssv1438863,nssv1423269,nssv1428158,nssv1425212,nssv1439581,nssv1438719,nssv1437346,nssv1426533,nssv1431943,nssv1435768,nssv1440254 M 31 0 18 "" AK10,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18582,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 nsv821513 3 26425927 26427261 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420317 S 1 0 1 "" NA10851 nsv822042 3 26425943 26427168 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431204 S 31 1 0 "" AK18 nsv822044 3 26425943 26427239 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427740,nssv1427394,nssv1434982,nssv1425634,nssv1428942 M 31 3 2 "" AK12,AK4,AK8,NA18592,NA18942 esv7654 3 26425962 26427304 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30095 S 1 0 1 "" SJK esv24377 3 26425966 26427261 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14939 S 451 19 6 "" NA07037,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819961 3 26425972 26427353 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419251 S 2 1 0 "" AK1 esv1008739 3 26425973 26427301 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571913 S 3 0 1 "" HuRef esv3389 3 26444858 26445097 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25830 S 1 0 1 Single Asian sample YH "" YH nsv237043 3 26444892 26444986 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255621 M 24 "" nsv834649 3 26478245 26651493 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442722 S 95 1 0 LRRC3B esv270950 3 26499416 26500845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496673,essv2495452,essv2511405,essv2495231,essv2499349,essv2512407,essv2513232,essv2510319,essv2508569,essv2503766,essv2512494,essv2511714,essv2509828,essv2493607,essv2498302,essv2508748,essv2503319,essv2497364,essv2494590,essv2500059,essv2508246,essv2507817,essv2508125,essv2508708,essv2509977,essv2501605,essv2507549,essv2513550,essv2511636,essv2511138,essv2503565,essv2502433,essv2509399,essv2500539,essv2496023,essv2495227,essv2500810,essv2501394,essv2504654,essv2510896,essv2497095,essv2495742 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11894,NA11919,NA11920,NA11992,NA11994,NA12043,NA12249,NA12414,NA12717,NA12761,NA18489,NA18499,NA18508,NA18517,NA18526,NA18532,NA18542,NA18545,NA18550,NA18558,NA18561,NA18564,NA18579,NA18592,NA18593,NA18608,NA18638,NA18907,NA18940,NA18944,NA18947,NA18948,NA18953,NA18956,NA18961,NA18964,NA18973,NA19093,NA19099,NA19116,NA19190 esv2466625 3 26501477 26502633 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222159 S 1 0 1 "" NA18507 nsv528020 3 26516696 26522337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704549 S 2026 0 1 "" dgv5121n71 3 26532598 26651318 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876642,nsv876640,nsv876641 M 6533 0 5 LRRC3B IS32891,IS35018,IS35993,IS37293,IS40902 esv275078 3 26576768 26586890 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585814 S 1250 0 1 "" nsv437328 3 26579062 26596082 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467209 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv876643 3 26643387 26966364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548563 S 6533 1 0 LRRC3B MS17878 nsv526575 3 26657363 26662581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702893 S 2026 0 1 LRRC3B esv22011 3 26749602 26751885 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20808 S 451 1 0 "" NA12044 esv2403057 3 26761525 26762115 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657684 S 1 0 1 "" NA18507 esv2575481 3 26761714 26762033 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344845 S 1 0 1 "" NA18507 esv6917 3 26819496 26819603 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29358 S 1 1 0 "" SJK nsv524615 3 26821178 26872826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700576 S 2026 1 0 "" nsv236716 3 26864856 26867994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255294 M 24 "" esv270852 3 26881556 26881878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540875,essv2523132,essv2570581,essv2544553,essv2547282,essv2578055,essv2553907,essv2559740,essv2530561,essv2547791,essv2563245 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11831,NA12004,NA12044,NA12414,NA12717,NA12761,NA12763,NA12776,NA12873 nsv518665 3 26922419 26933421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694259 S 2026 0 1 "" nsv509817 3 26961347 26967347 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622023 S 4 0 1 "" NA10860 esv23315 3 27043445 27058384 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20568,esv19353 M 451 3 0 "" NA18909,NA19099,NA19190 esv26004 3 27093291 27095350 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18625 S 451 0 1 "" NA19240 nsv876644 3 27106040 27267561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501615 S 6533 0 1 NEK10 SP51145 nsv513039 3 27109190 27110222 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626522 S 1 0 1 "" 1 nsv509818 3 27361320 27367320 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621549,nssv618571,nssv623897,nssv622024 M 4 0 4 NEK10 CHM,NA10860,NA15510,NA18994 nsv3742 3 27361897 27394652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6999 S 9 1 0 NEK10,SLC4A7 NA12156 nsv876645 3 27406902 27649571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582424 S 6533 1 0 SLC4A7 IS35949 nsv876646 3 27407210 27558321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586669 S 6533 1 0 SLC4A7 IS37915 nsv522583 3 27443588 27446835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705970 S 2026 0 1 SLC4A7 nsv876647 3 27577036 27699856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548564 S 6533 1 0 "" MS17878 esv28705 3 27612161 27630067 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16636,esv10836 M 451 3 0 "" NA11931,NA12828,NA19114 nsv509819 3 27763618 27769618 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623898,nssv621550 M 4 0 2 "" NA15510,NA18994 esv2477923 3 27806696 27808095 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346540 S 1 0 1 "" NA18507 esv2237604 3 27806908 27807573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811482 S 1 0 1 "" NA18507 nsv876648 3 28035460 28255969 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548565 S 6533 1 0 "" MS17878 nsv876649 3 28101599 28693458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513312 S 6533 1 0 AZI2,CMC1,LOC645206,ZCWPW2 SP55729 nsv508214 3 28132558 28173534 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620206 S 4 0 1 "" NA15510 esv2502603 3 28142066 28143558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281439 S 1 0 1 "" NA18507 esv1976373 3 28142272 28142960 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719507 S 1 0 1 "" NA18507 esv1570870 3 28142477 28142803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589480 S 2 0 1 "" HuRef nsv230 3 28158923 28173995 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv230 S 1 0 1 "" NA15510 nsv3745 3 28158923 28173995 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11057 S 9 0 1 "" NA15510 nsv435751 3 28160425 28172853 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465990 S 2 0 1 "" NA15510 esv23571 3 28162004 28172682 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21351 S 451 0 1 "" NA15510 nsv498996 3 28162063 28172762 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585857 S 9 0 1 "" esv996576 3 28183198 28192845 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565793 S 3 0 1 "" HuRef esv998424 3 28255424 28255434 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574516 S 3 1 0 "" HuRef nsv236215 3 28255426 28255426 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254793 M 24 "" esv1082202 3 28255435 28255435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876719 S 2 1 0 "" HuRef esv996568 3 28328112 28413145 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565562 S 3 0 0 AZI2,CMC1,ZCWPW2 HuRef esv2500136 3 28366400 28368796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168958 S 1 0 1 "" NA18507 esv2010454 3 28366896 28368503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884041 S 1 0 1 "" NA18507 esv28887 3 28367063 28368319 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9779 S 451 0 2 "" NA18861,NA19190 esv268023 3 28399802 28400080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507993,essv2501722,essv2495886,essv2503578,essv2495763,essv2499507,essv2513078 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA10847,NA12003,NA12144,NA12489 nsv876650 3 28402033 28588606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566798 S 6533 0 1 ZCWPW2 IS30925 esv2480638 3 28424524 28426023 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261195 S 1 0 1 ZCWPW2 NA18507 nsv3746 3 28448967 28481392 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3153 S 9 1 0 ZCWPW2 NA12878 nsv524090 3 28606128 28620282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699962 S 2026 0 1 LOC645206 esv2751999 3 28635630 28680800 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990091,essv6985171,essv6985170 M 771 0 1 LOC645206 SPC_113 esv24828 3 28644607 28646514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15986 S 451 0 2 LOC645206 NA18907,NA19225 esv267435 3 28682017 28682214 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510247,essv2506793,essv2511390,essv2511209,essv2499354,essv2505088,essv2507955,essv2502312,essv2500189,essv2512429,essv2499443,essv2508065,essv2505570,essv2512242,essv2513155,essv2495339,essv2510346,essv2503426,essv2508389,essv2503830,essv2493461,essv2493397,essv2505004,essv2508871,essv2500272,essv2502760,essv2493726,essv2494661,essv2509041,essv2506001,essv2498276,essv2508742,essv2500384,essv2503324,essv2494589,essv2497122,essv2497751,essv2500046,essv2499906,essv2504578,essv2507922,essv2506326,essv2511257,essv2500602,essv2494512,essv2507641,essv2512763,essv2508473,essv2508639,essv2510028,essv2496073,essv2499259,essv2501629,essv2512853,essv2507548,essv2500962,essv2507223,essv2513388,essv2509351,essv2507343,essv2495579,essv2504944,essv2503119,essv2511120,essv2497904,essv2503497,essv2502444,essv2493096,essv2505457,essv2497419,essv2495106,essv2502663,essv2500777,essv2512772,essv2505599,essv2506857,essv2506703,essv2499135,essv2509603,essv2503593,essv2495830,essv2503873,essv2495011,essv2511537,essv2504357,essv2513086 M 157 86 0 Samples from several populations that are part of the HapMap project. LOC645206 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11918,NA11920,NA11931,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12249,NA12287,NA12414,NA12716,NA12749,NA12761,NA12763,NA12776,NA12828,NA12878,NA12891,NA12892,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18870,NA18907,NA18909,NA18912,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18959,NA18964,NA18965,NA18973,NA18980,NA19005,NA19102,NA19108,NA19114,NA19129 esv274129 3 28682027 28682186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580157,essv2580032,essv2578930,essv2579781 M 7 4 0 Samples from several populations that are part of the HapMap project. LOC645206 NA12878,NA12892,NA19239,NA19240 esv1469859 3 28682062 28682062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891282 S 2 1 0 LOC645206 HuRef nsv876651 3 28749262 28798160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555357 S 6533 0 1 LOC645206 MS21294 esv21829 3 28785035 28792822 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16162 S 451 0 1 "" NA11993 nsv441815 3 28785441 28791112 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516014 3 28786333 28789921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667902,nssv672448,nssv673514,nssv688639,nssv665733 M 2026 0 5 "" nsv876652 3 28786333 28922695 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548566 S 6533 1 0 "" MS17878 nsv876653 3 28794127 29341168 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513313 S 6533 1 0 RBMS3 SP55729 esv269134 3 28815147 28815479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542555,essv2536410,essv2545268,essv2531694,essv2577244,essv2521606,essv2550440,essv2577902,essv2559467,essv2562140,essv2537541,essv2528371,essv2546887,essv2523723,essv2552790,essv2541361,essv2538434,essv2524395,essv2534558,essv2539603,essv2549475,essv2519669,essv2560115,essv2532804,essv2567973,essv2570183,essv2559392,essv2578478,essv2555338,essv2555597,essv2530124,essv2527641,essv2573458,essv2545884,essv2574223,essv2536113,essv2547871,essv2558203 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10851,NA11919,NA11920,NA12003,NA12006,NA12043,NA12144,NA12234,NA12761,NA12776,NA12874,NA12878,NA12891,NA12892,NA18537,NA18542,NA18545,NA18547,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18576,NA18577,NA18593,NA18638,NA18940,NA18943,NA18945,NA18949,NA18952,NA18964,NA19239,NA19240 esv273208 3 28815149 28815479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581888,essv2582508,essv2583213,essv2584587,essv2583707 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 nsv876654 3 28857984 29080086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518995 S 6533 0 1 "" SP80928 nsv441816 3 29013259 29016700 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv9401 3 29158899 29340599 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. RBMS3 NA18853 dgv1444e1 3 29158899 29670492 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14721,esv454 M 271 0 0 RBMS3 NA19159 esv270007 3 29214865 29214950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519331,essv2514718,essv2515157,essv2516114,essv2516919,essv2518915,essv2518267 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12234,NA12812,NA12873,NA12892,NA19239,NA19240 esv274285 3 29214869 29215068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582836,essv2584819,essv2583878 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 nsv876655 3 29240956 29271795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508264,nssv1504099 M 6533 0 2 "" SP52195,SP54625 nsv521764 3 29347408 29348278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694531 S 2026 0 1 RBMS3 nsv876656 3 29348725 29390654 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548567 S 6533 1 0 RBMS3 MS17878 nsv876657 3 29464270 29475838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585395 S 6533 0 1 RBMS3 IS37443 esv2531384 3 29464899 29466217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389794 S 1 0 1 RBMS3 NA18507 esv1270593 3 29489494 29489494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819909 S 2 1 0 RBMS3 HuRef nsv527860 3 29535046 29536966 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704358 S 2026 0 1 RBMS3 nsv818133 3 29548553 29551969 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417335 S 112 0 1 RBMS3 NA18609 esv29311 3 29557685 29559223 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12657 S 451 0 1 RBMS3 NA18861 nsv876658 3 29585492 29685225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563369 S 6533 0 1 RBMS3 MS25976 esv3696 3 29595220 29595677 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26137 S 1 0 1 Single Asian sample YH RBMS3 YH nsv834650 3 29648645 29791145 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442723,nssv1442724 M 95 2 0 RBMS3 nsv10257 3 29654069 29656481 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29121,nssv11478 M 31 0 2 Samples from several populations that are part of the HapMap project. RBMS3 NA18564,NA18975 esv275093 3 29721595 29728435 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585896 S 1250 0 1 RBMS3 esv8206 3 29734892 29734997 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30647 S 1 1 0 RBMS3 SJK nsv518057 3 29925173 29929694 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695468 S 2026 0 1 RBMS3 esv989202 3 30006766 30006766 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585876 S 3 1 0 RBMS3 HuRef esv268137 3 30034414 30034764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510725,essv2500987,essv2513465,essv2506872,essv2506594 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18856,NA18907,NA19102,NA19108 nsv441817 3 30042734 30046449 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514143 3 30042736 30046418 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627576 S 1414 0 1 "" nsv834651 3 30058419 30215810 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442725 S 95 1 0 "" nsv435773 3 30123646 30130224 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465991 S 2 0 1 "" NA15510 nsv438394 3 30167422 30170791 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471242,nssv471238,nssv471241,nssv471240,nssv471239 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18529,NA18570,NA18579,NA18945,NA18978 nsv876659 3 30183258 30542670 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560689 S 6533 1 0 "" MS24651 nsv3747 3 30228227 30269426 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7784 S 9 0 1 "" NA12156 dgv5122n71 3 30229189 30332431 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876661,nsv876660,nsv876662 M 6533 0 6 "" MS13241,MS19852,SP50830,SP53503,SP54049,SP81105 esv3958 3 30272785 30273383 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26399 S 1 0 1 Single Asian sample YH "" YH nsv876663 3 30304563 30418873 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548568 S 6533 1 0 "" MS17878 esv24811 3 30387956 30388747 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19214 S 451 1 0 "" NA12489 esv2096201 3 30406861 30407284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562782 S 1 0 1 "" NA18507 nsv876664 3 30505903 30693433 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584906 S 6533 1 0 TGFBR2 IS37172 nsv7352 3 30513291 30875630 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7000 S 9 0 0 GADL1,TGFBR2 NA12156 nsv822045 3 30552357 30553517 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432724 S 31 1 0 "" NA18972 nsv507090 3 30586428 30592428 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620758,nssv617600,nssv621699 M 4 3 0 "" CHM,NA10860,NA15510 nsv3748 3 30639723 30642742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3090 S 9 1 0 TGFBR2 NA18555 nsv876665 3 30652488 30879848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560690 S 6533 1 0 GADL1,TGFBR2 MS24651 nsv522284 3 30820370 30823257 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694152 S 2026 0 1 GADL1 nsv522385 3 30833726 30833958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695164 S 2026 0 1 GADL1 nsv460484 3 30856301 30967587 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537047 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GADL1 HGDP01168 nsv876666 3 30869865 30957715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548569 S 6533 1 0 GADL1 MS17878 nsv515560 3 30885556 30888044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690160,nssv671299,nssv663901,nssv683384,nssv661021,nssv676182,nssv660339,nssv678013,nssv665455,nssv665671,nssv672268,nssv693107 M 2026 0 12 GADL1 nsv514144 3 30885630 30888432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627577 S 1414 0 1 GADL1 nsv441818 3 30886154 30888645 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GADL1 nsv237326 3 30966212 30966212 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255904 M 24 "" nsv441819 3 30967806 30973751 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514145 3 30968172 30973520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627578 S 1414 0 1 "" esv22133 3 30969746 30974887 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20926 S 451 0 2 "" NA18523,NA18861 esv2421468 3 30970593 30973753 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056548,essv5155172,essv5070155,essv5084332,essv5017065,essv5034432,essv5127630,essv5143734,essv5080810,essv5126692,essv5045272,essv5074204,essv5065876,essv5110153,essv5074400,essv5089612,essv5149631,essv5022241,essv5083147,essv5131108,essv5032267,essv5082946,essv5078992,essv5076324,essv5054836,essv5115399 M 1184 0 26 "" NA18510,NA18861,NA18863,NA19095,NA19097,NA19098,NA19159,NA19181,NA19183,NA19197,NA19236,NA19237,NA19238,NA19379,NA19430,NA19625,NA20341,NA21307,NA21309,NA21355,NA21363,NA21371,NA21381,NA21415,NA21573,NA21632 esv275169 3 31002768 31004383 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585442,essv2585311 M 1250 1 1 "" nsv822046 3 31012091 31012561 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431944 S 31 1 0 "" AK20 nsv876667 3 31025504 31256621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548570 S 6533 1 0 "" MS17878 nsv876668 3 31035342 31133868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560691 S 6533 1 0 "" MS24651 nsv3749 3 31090129 31123026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3154 S 9 1 0 "" NA12878 esv271523 3 31185564 31185903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526038,essv2536667,essv2545384,essv2521652,essv2576652,essv2550784,essv2544354,essv2558252,essv2565396,essv2532301,essv2563007,essv2523750,essv2553066,essv2538352,essv2542766,essv2524530,essv2564881,essv2539719,essv2549300,essv2519858,essv2522010,essv2567779,essv2528952,essv2567421,essv2541461,essv2570342,essv2535556,essv2572470,essv2578185,essv2533440,essv2567083,essv2566443,essv2530128,essv2527643,essv2555881,essv2534359,essv2522477,essv2531636,essv2573629,essv2543044,essv2577164,essv2572181,essv2525697,essv2526787,essv2575190,essv2526407,essv2568743,essv2551499,essv2537936,essv2548907,essv2557912 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10851,NA11918,NA11920,NA12003,NA12144,NA12154,NA12155,NA12414,NA12750,NA12812,NA18505,NA18532,NA18537,NA18542,NA18547,NA18550,NA18555,NA18558,NA18563,NA18564,NA18566,NA18571,NA18577,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18940,NA18944,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19102,NA19114,NA19147,NA19257 nsv876669 3 31270260 31412192 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512033 S 6533 1 0 "" SP55264 esv268636 3 31314773 31315141 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510181,essv2499343,essv2502596 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11994,NA12750 esv268980 3 31375638 31375723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516446,essv2515663,essv2514320,essv2519021,essv2519369 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12814,NA12815,NA12874,NA19141 esv2476277 3 31456520 31457937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180924 S 1 0 1 "" NA18507 esv274880 3 31477964 31478423 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585465,essv2585864 M 1250 1 1 "" nsv876670 3 31487591 31758330 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590225 S 6533 1 0 OSBPL10,STT3B IS38472 esv2619910 3 31517601 31519149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212708 S 1 0 1 "" NA18507 esv2155591 3 31518490 31519146 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4742262 S 1 0 1 "" NA18507 esv1008680 3 31647526 31651778 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564846 S 3 0 1 STT3B HuRef nsv876671 3 31688357 31761375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548571 S 6533 1 0 OSBPL10 MS17878 nsv876672 3 31696778 32016233 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584673 S 6533 1 0 OSBPL10,ZNF860 IS37116 nsv460485 3 31719237 31750758 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537048 S 1557 0 1 OSBPL10 1780854465_A esv275041 3 31741311 31746932 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585323 S 1250 0 1 OSBPL10 nsv818135 3 31797341 31806124 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418541 S 112 0 1 OSBPL10 NA12236 nsv876673 3 31814246 31963098 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590226 S 6533 1 0 OSBPL10 IS38472 esv267699 3 31817173 31817520 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509879,essv2495605,essv2506450,essv2510900 M 157 4 0 Samples from several populations that are part of the HapMap project. OSBPL10 NA18508,NA18916,NA19108,NA19116 nsv521977 3 31825162 31825509 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694744 S 2026 1 0 OSBPL10 esv988249 3 31829252 31829313 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583423 S 3 0 1 OSBPL10 HuRef esv1288233 3 31829280 31829342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816579 S 2 0 1 OSBPL10 HuRef esv1005278 3 31831639 31831696 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585421 S 3 0 1 OSBPL10 HuRef esv1213497 3 31831674 31831732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331361 S 2 0 1 OSBPL10 HuRef nsv876674 3 31832840 31900672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518372 S 6533 0 1 OSBPL10 SP57518 nsv876675 3 31832840 31908623 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547310 S 6533 1 0 OSBPL10 MS17310 nsv516113 3 31837685 31838437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666288,nssv702224,nssv699605,nssv689132 M 2026 0 4 OSBPL10 esv269770 3 31856352 31856706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540798,essv2571823,essv2546550,essv2521380,essv2526201,essv2542546,essv2522992,essv2543824,essv2556579,essv2523350,essv2531707,essv2577561,essv2570360,essv2548469,essv2521669,essv2576756,essv2525468,essv2554320,essv2544253,essv2552167,essv2547377,essv2529220,essv2558580,essv2564498,essv2577705,essv2553783,essv2565318,essv2520057,essv2562115,essv2537438,essv2528496,essv2546734,essv2520799,essv2557362,essv2532203,essv2550070,essv2537172,essv2539169,essv2569655,essv2545002,essv2553076,essv2541263,essv2538305,essv2542837,essv2540291,essv2524348,essv2565144,essv2534837,essv2561126,essv2539575,essv2549503,essv2519853,essv2560012,essv2521974,essv2566320,essv2531018,essv2532493,essv2567932,essv2528674,essv2567513,essv2541736,essv2570298,essv2563597,essv2553220,essv2535840,essv2572402,essv2559314,essv2562530,essv2533870,essv2578219,essv2573060,essv2533774,essv2555603,essv2567139,essv2566529,essv2529950,essv2527446,essv2556095,essv2534356,essv2522535,essv2531306,essv2573428,essv2543364,essv2577095,essv2572038,essv2525698,essv2526974,essv2529441,essv2575613,essv2575286,essv2538551,essv2545215,essv2560518,essv2571233,essv2536007,essv2538086,essv2533424,essv2554716,essv2547937,essv2524862,essv2563307,essv2558025 M 157 102 0 Samples from several populations that are part of the HapMap project. OSBPL10 NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11994,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12815,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18505,NA18511,NA18517,NA18519,NA18520,NA18526,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18909,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19172,NA19190,NA19238 esv274396 3 31856357 31856709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581956,essv2582643,essv2583037,essv2584255 M 7 4 0 Samples from several populations that are part of the HapMap project. OSBPL10 NA12878,NA12891,NA12892,NA19238 esv1027425 3 31856402 31856402 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644521 S 2 1 0 OSBPL10 HuRef nsv876676 3 31920446 32295296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547311 S 6533 1 0 CMTM8,GPD1L,OSBPL10,ZNF860 MS17310 esv274581 3 31983163 31983513 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579053 S 7 1 0 Samples from several populations that are part of the HapMap project. OSBPL10 NA19239 nsv508216 3 32042086 32083714 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617474,nssv622455,nssv620207 M 4 0 3 "" CHM,NA15510,NA18994 esv33766 3 32056220 32056265 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98780 S 51 0 1 "" 21606 nsv3750 3 32071577 32091756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2392,nssv3155 M 9 0 2 "" NA12878,NA18555 esv996170 3 32073182 32083617 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565553 S 3 0 1 "" HuRef dgv77n16 3 32075757 32084008 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436387,nsv435752 M 2 0 2 "" NA15510,NA18505 nsv513040 3 32076596 32082882 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626523 S 1 0 1 "" 1 dgv801n67 3 32077003 32083269 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822048,nsv822047 M 31 0 17 "" AK14,AK16,AK18,AK20,AK6,AK8,NA18537,NA18547,NA18566,NA18570,NA18582,NA18592,NA18942,NA18969,NA18973,NA18997,NA18999 nsv820490 3 32077003 32083269 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420318 S 1 0 1 "" NA10851 esv3902 3 32077027 32082984 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26343 S 1 0 1 Single Asian sample YH "" YH nsv819461 3 32077027 32094764 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418669 S 2 1 0 "" AK1 esv6522 3 32077051 32082918 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28963 S 1 0 1 "" SJK nsv822049 3 32077054 32082088 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425224 S 31 1 0 "" NA18947 nsv498997 3 32077054 32082890 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585858 S 9 0 1 "" esv997637 3 32077055 32082887 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572965 S 3 0 1 "" HuRef esv1189933 3 32077056 32082889 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998228 S 2 0 1 "" HuRef nsv514146 3 32077078 32081942 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627579 S 1414 0 1 "" esv22279 3 32077088 32082966 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15664 S 451 15 11 "" NA07045,NA11894,NA11931,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv33201 3 32077906 32081854 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98716,essv98681,essv101163,essv100946,essv100941,essv95149,essv95213,essv98180,essv98163,essv94653,essv94140,essv94362,essv97036,essv97930,essv95275,essv97309,essv95774,essv92713,essv93693,essv96586,essv96030,essv93465,essv93332,essv97658,essv99452,essv96400,essv96421,essv94269 M 51 23 0 "" 21606,21618,21693,21721,21772,21791,21802,21808,21817,21837,21872,21879,21911,21944,21972,22011,22127,22128,22170,22278,22335,22371,22394 nsv3751 3 32104710 32150101 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7001 S 9 0 1 GPD1L NA12156 esv1989208 3 32128533 32129052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589823 S 1 0 1 GPD1L NA18507 esv1004639 3 32128722 32128878 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569645 S 3 0 1 GPD1L HuRef nsv236695 3 32128745 32128901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255273 M 24 GPD1L esv1941368 3 32176605 32177296 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997871 S 1 0 1 GPD1L NA18507 esv4935 3 32176731 32177192 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27376 S 1 0 1 Single Asian sample YH GPD1L YH nsv876677 3 32177704 32192793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518122 S 6533 0 1 GPD1L SP57469 esv2608526 3 32178378 32180061 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178054 S 1 0 1 GPD1L NA18507 esv2280091 3 32178657 32179338 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776030 S 1 0 1 GPD1L NA18507 esv5199 3 32178812 32179305 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27640 S 1 0 1 Single Asian sample YH GPD1L YH esv269176 3 32204375 32204571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522666,essv2576137,essv2540095,essv2557016,essv2523877,essv2540283,essv2519843,essv2522131,essv2566307,essv2569929,essv2559228,essv2522498,essv2571980,essv2529826,essv2526525,essv2560709,essv2537975 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11931,NA12814,NA18489,NA18501,NA18537,NA18552,NA18566,NA18571,NA18572,NA18593,NA18638,NA18960,NA18973,NA19093,NA19114,NA19116 nsv528609 3 32209618 32211062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705235 S 2026 0 1 "" esv23045 3 32313997 32314528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21431 S 451 0 1 CMTM8 NA12156 esv271280 3 32314380 32315086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517436 S 157 1 0 Samples from several populations that are part of the HapMap project. CMTM8 NA11918 nsv526741 3 32333007 32334013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703084 S 2026 0 1 CMTM8 esv2511457 3 32357706 32359246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333418 S 1 0 1 CMTM8 NA18507 nsv236546 3 32373794 32377782 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255124 M 24 CMTM8 nsv834652 3 32392288 32581418 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442726 S 95 0 1 CMTM6,CMTM7,DYNC1LI1 esv2598015 3 32394708 32396262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307665 S 1 0 1 "" NA18507 esv2285404 3 32395457 32395890 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605204 S 1 0 1 "" NA18507 nsv518025 3 32414789 32432202 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695435 S 2026 1 0 CMTM7 nsv522856 3 32465898 32486301 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698510 S 2026 1 0 CMTM7 nsv3752 3 32563236 32572930 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7786 S 9 0 1 DYNC1LI1 NA12156 nsv237972 3 32633014 32634572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256550 M 24 "" esv1346041 3 32642752 32642912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245737 S 2 0 1 "" HuRef esv26833 3 32643145 32644073 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18095 S 451 0 13 "" NA07045,NA18502,NA18508,NA18517,NA18907,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19257 nsv508908 3 32661125 32704580 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621193,nssv623368 M 4 2 0 CNOT10 NA15510,NA18994 nsv822050 3 32701646 32702314 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431946 S 31 0 1 CNOT10 AK20 nsv237812 3 32703966 32707048 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256390 M 24 CNOT10 esv2515147 3 32781331 32784109 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169738 S 1 0 1 CNOT10 NA18507 nsv513041 3 32781668 32783130 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626524 S 1 0 1 CNOT10 1 esv999127 3 32781765 32783079 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584535 S 3 0 1 CNOT10 HuRef esv1454338 3 32781767 32783082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085264 S 2 0 1 CNOT10 HuRef esv6047 3 32866308 32866418 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28488 S 1 1 0 TRIM71 SJK nsv822051 3 32883650 32884423 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434310 S 31 1 0 TRIM71 NA18570 nsv507091 3 32917292 32923292 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622851 S 4 1 0 "" NA18994 nsv508909 3 32943800 32973304 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621194,nssv623369,nssv619318 M 4 3 0 CCR4 NA10860,NA15510,NA18994 nsv876678 3 32954092 33013187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564016 S 6533 0 1 CCR4,GLB1 IS30146 esv999082 3 32956611 32958615 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564748 S 3 1 0 "" HuRef esv2432113 3 32977367 32983997 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263860 S 1 0 1 "" NA18507 nsv3753 3 32982886 33043721 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1665,nssv5953 M 9 2 0 GLB1 NA19129,NA19240 esv33555 3 33013866 33014088 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97202 S 51 1 0 GLB1 22075 nsv509820 3 33046083 33052083 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623900 S 4 0 1 GLB1 NA18994 esv1292944 3 33130423 33131955 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232288 S 2 0 0 CRTAP HuRef nsv834653 3 33242142 33398411 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442727 S 95 0 1 FBXL2 esv2456421 3 33263452 33263643 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177336 S 1 0 1 "" NA18507 dgv1445e1 3 33270111 33446477 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6873,esv105 M 271 0 0 FBXL2,UBP1 NA18605 esv2550870 3 33275002 33276753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176426 S 1 0 1 "" NA18507 esv2398774 3 33275741 33276457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813387 S 1 0 1 "" NA18507 esv3273 3 33275918 33276307 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25714 S 1 0 1 Single Asian sample YH "" YH esv2628451 3 33275944 33276251 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340474 S 1 0 1 "" NA18507 nsv522292 3 33277956 33296620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695074 S 2026 0 1 FBXL2 nsv525895 3 33277956 33296620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702098 S 2026 1 0 FBXL2 nsv876679 3 33286246 33348207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517791 S 6533 0 1 FBXL2 SP57368 nsv876680 3 33306281 33355810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505554 S 6533 0 1 FBXL2 SP53687 nsv10258 3 33395092 33398240 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11508 S 31 0 1 Samples from several populations that are part of the HapMap project. FBXL2 NA18564 nsv822052 3 33396904 33397627 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421592,nssv1440255 M 31 0 2 FBXL2 NA18564,NA18997 nsv10259 3 33410106 33411826 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11937 S 31 0 1 Samples from several populations that are part of the HapMap project. UBP1 NA19132 esv2152405 3 33460526 33460979 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735616 S 1 0 1 "" NA18507 nsv460487 3 33484765 33577911 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537049 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLASP2 HGDP01010 esv5412 3 33528129 33529170 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27853 S 1 0 1 Single Asian sample YH CLASP2 YH nsv236645 3 33528212 33529097 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255223 M 24 CLASP2 esv6458 3 33528216 33529076 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28899 S 1 0 1 CLASP2 SJK nsv525628 3 33562609 33635728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701777 S 2026 0 1 CLASP2 nsv3754 3 33605566 33637521 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7787 S 9 0 1 CLASP2 NA12156 nsv876681 3 33637324 33668798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515085 S 6533 0 1 CLASP2 SP56120 nsv3756 3 33654726 33686888 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7002 S 9 1 0 CLASP2 NA12156 esv259476 3 33697529 33697985 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394154 S 6 0 0 Samples from several populations that are part of the HapMap project. CLASP2 NA12878 nsv522881 3 33711130 34216690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698537 S 2026 1 0 CLASP2,PDCD6IP nsv3757 3 33739601 33771887 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1666 S 9 1 0 "" NA19240 esv2652691 3 33809387 33810700 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298160 S 1 0 1 "" NA18507 nsv3758 3 33834690 33869141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3091 S 9 1 0 PDCD6IP NA18555 nsv518079 3 33889044 33901129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695492 S 2026 0 1 "" esv270094 3 33897400 33898839 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508974,essv2497548,essv2502036 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19147,NA19257 nsv528809 3 33898833 33901129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705483 S 2026 0 1 "" esv22441 3 34094739 34095337 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19091 S 451 0 1 "" NA19240 nsv876682 3 34124818 34376455 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548572 S 6533 1 0 "" MS17878 esv21482 3 34224641 34225830 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14613 S 451 1 0 "" NA18508 esv22818 3 34239100 34240444 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12957 S 451 0 1 "" NA18861 nsv3759 3 34312987 34346573 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1667 S 9 1 0 "" NA19240 nsv876683 3 34426944 34511099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577859 S 6533 0 1 "" IS34599 nsv876684 3 34477656 34541951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548573 S 6533 1 0 "" MS17878 esv2031129 3 34506968 34507497 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719436 S 1 0 1 "" NA18507 esv3392 3 34507118 34507446 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25833 S 1 0 1 Single Asian sample YH "" YH nsv876685 3 34590758 34637161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548574 S 6533 1 0 "" MS17878 nsv519548 3 34659002 34693804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696914 S 2026 0 1 "" nsv822053 3 34669174 34673328 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436483 S 31 0 1 "" NA18542 nsv526865 3 34673301 34674131 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703223 S 2026 1 0 "" nsv525435 3 34673301 34693804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701563 S 2026 0 1 "" esv271019 3 34697816 34697901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513850 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 dgv279n21 3 34719756 34725068 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520608,nsv523597 M 2026 0 2 "" dgv75n68 3 34722806 34891661 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834655,nsv834654 M 95 2 0 "" esv1070601 3 34834784 34834784 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907311 S 2 1 0 "" HuRef esv2219743 3 34866806 34867293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568095 S 1 0 1 "" NA18507 dgv115n6 3 34866996 34867131 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236553,nsv236291 M 24 "" nsv876686 3 34942350 35050359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591104 S 6533 0 1 "" IS38637 nsv834656 3 34981202 35131136 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442731 S 95 0 1 "" esv2423751 3 35026005 35027616 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378552 S 1 0 1 "" NA18507 esv2418082 3 35026468 35027198 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915652 S 1 0 1 "" NA18507 esv3649 3 35026577 35027097 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26090 S 1 0 1 Single Asian sample YH "" YH esv994202 3 35026664 35026991 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585183 S 3 0 1 "" HuRef esv9224 3 35026672 35026994 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31665 S 1 0 1 "" SJK esv6526 3 35028677 35028770 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28967 S 1 1 0 "" SJK esv259798 3 35223922 35224215 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397676,essv2397788,essv2394629,essv2399796 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18870,NA19129 nsv822055 3 35291868 35304482 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431947 S 31 1 0 "" AK20 esv267775 3 35321609 35321947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542360,essv2523425,essv2570714,essv2520654,essv2564770,essv2576476,essv2520089,essv2555134,essv2556846,essv2532095,essv2541182,essv2542923,essv2524400,essv2565121,essv2539872,essv2530911,essv2567357,essv2572330,essv2562489,essv2539247,essv2578380,essv2572995,essv2533447,essv2567117,essv2573791,essv2534401,essv2522327,essv2573651,essv2572054,essv2560696,essv2560392,essv2549922,essv2551625,essv2536308,essv2538007,essv2533112 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA11919,NA12004,NA12044,NA12716,NA12751,NA12814,NA12815,NA12872,NA18501,NA18505,NA18545,NA18550,NA18555,NA18558,NA18563,NA18573,NA18582,NA18609,NA18909,NA18912,NA18940,NA18942,NA18944,NA18947,NA18951,NA18959,NA18960,NA18964,NA18973,NA19116,NA19190,NA19225,NA19257 esv996646 3 35325569 35326119 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586934 S 3 0 1 "" HuRef nsv460488 3 35329050 35346920 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537050 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00930 nsv876687 3 35346920 35458668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548575 S 6533 1 0 "" MS17878 nsv876688 3 35361572 35502413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535189 S 6533 0 1 "" MS12071 nsv876689 3 35370259 35458668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590649 S 6533 0 1 "" IS38544 nsv834658 3 35424640 35614148 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442732 S 95 1 0 "" nsv528021 3 35466435 35566992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704550 S 2026 0 1 "" esv1661372 3 35485605 35485605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943665 S 2 1 0 "" HuRef esv1196083 3 35556385 35556385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597611 S 2 1 0 "" HuRef esv1005884 3 35556396 35556396 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581352 S 3 1 0 "" HuRef esv32944 3 35557196 35564769 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97183 S 51 1 0 "" 22075 esv1062330 3 35580469 35580924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311476 S 2 0 1 "" HuRef esv1562242 3 35581045 35581045 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147181 S 2 1 0 "" HuRef esv1576238 3 35581143 35581143 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734346 S 2 1 0 "" HuRef nsv876690 3 35680733 35718062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597508,nssv1578457 M 6533 0 2 ARPP21 IS34782,IS40890 nsv876691 3 35680733 35746656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601027 S 6533 0 1 ARPP21 IS41964 nsv526191 3 35690238 35847380 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702453 S 2026 0 1 ARPP21,MIR128-2 esv267712 3 35691642 35691801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508912,essv2501047,essv2498540,essv2501345,essv2509613 M 157 5 0 Samples from several populations that are part of the HapMap project. ARPP21 NA18522,NA18856,NA18858,NA19093,NA19129 nsv526436 3 35693851 35697969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702739 S 2026 0 1 ARPP21 nsv516510 3 35775771 35913799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668761,nssv688814,nssv655068 M 2026 3 0 ARPP21 esv2752002 3 35780275 35907500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987198,essv6988913 M 771 1 0 ARPP21 SPC_133 dgv599n27 3 35798283 35913799 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460490,nsv460489 M 1557 2 0 ARPP21 NINDS_46,NINDS_85 esv269187 3 35805995 35806290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539998,essv2528038,essv2538817,essv2574636,essv2572651 M 157 5 0 Samples from several populations that are part of the HapMap project. ARPP21 NA18489,NA18907,NA19108,NA19138,NA19143 nsv834659 3 35872726 36032010 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442733 S 95 1 0 "" esv34094 3 35887093 36343650 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv523267 3 35923646 35944083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699001 S 2026 0 1 "" esv269486 3 35927418 35927506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571718,essv2558682,essv2537039,essv2539238,essv2574896,essv2538016,essv2525207 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11840,NA12750,NA18517,NA18912,NA19138 nsv438395 3 35949438 35971877 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471243 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 dgv5123n71 3 35949438 35993771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876693,nsv876692 M 6533 0 2 "" IS30292,IS35028 nsv3760 3 35950003 35983768 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5954 S 9 1 0 "" NA19129 nsv527780 3 35962410 35993771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704271 S 2026 0 1 "" dgv5124n71 3 35967864 36004324 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876694,nsv876695,nsv876697,nsv876696 M 6533 0 6 "" IS30143,IS31373,IS34779,IS36131,IS41832,MS16824 nsv517502 3 35982118 35990129 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652203,nssv683385,nssv668277,nssv655634,nssv699340 M 2026 1 4 "" dgv280n21 3 35982118 35993771 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519232,nsv526585 M 2026 0 2 "" nsv438396 3 35991437 36030393 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471248,nssv471247,nssv471245,nssv471244 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18547,NA18943,NA18944,NA18947 nsv10260 3 36031493 36033049 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28769 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 nsv513042 3 36031754 36033297 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626525 S 1 0 1 "" 1 nsv876698 3 36060322 36190013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601028 S 6533 0 1 "" IS41964 esv1066333 3 36060670 36060670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195508 S 2 1 0 "" HuRef esv5269 3 36083006 36083542 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27710 S 1 0 1 Single Asian sample YH "" YH esv8537 3 36083133 36083443 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30978 S 1 0 1 "" SJK esv29680 3 36128997 36129696 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20051 S 451 0 1 "" NA12414 esv26868 3 36146551 36147956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15239 S 451 0 1 "" NA18508 nsv876699 3 36176745 36273229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526638 S 6533 0 1 "" SP57686 nsv523689 3 36226719 36319483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699495 S 2026 0 1 "" dgv1446e1 3 36258534 36290961 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1162,essv2716 M 271 0 0 "" NA18944 nsv819294 3 36282641 36291020 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419867 S 2 0 1 "" AK1 nsv818136 3 36284900 36289024 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417367 S 112 0 1 "" NA18944 esv2225419 3 36316641 36317099 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759446 S 1 0 1 "" NA18507 nsv522903 3 36360826 36379568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698561 S 2026 0 1 "" nsv515984 3 36378968 36380078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678246,nssv657847,nssv694183,nssv665590,nssv685927 M 2026 0 5 "" nsv876700 3 36400540 36558521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556188 S 6533 0 1 STAC MS21857 dgv281n21 3 36404488 36432376 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523547,nsv518247 M 2026 0 2 STAC nsv3761 3 36423200 36456405 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1668 S 9 1 0 STAC NA19240 nsv876701 3 36459827 36465879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515598,nssv1518684 M 6533 0 2 STAC SP56224,SP57921 esv2474534 3 36574302 36575366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369171 S 1 1 0 "" NA18507 nsv876702 3 36649944 36696948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583727,nssv1553932,nssv1578216,nssv1600876,nssv1557455 M 6533 0 5 "" IS34737,IS36640,IS41939,MS20440,MS22705 nsv876703 3 36649944 36745836 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578553 S 6533 0 1 DCLK3 IS34805 nsv834660 3 36652421 36852834 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442734 S 95 0 1 DCLK3,TRANK1 esv28984 3 36686784 36694481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10321 S 451 0 1 "" NA18909 nsv834661 3 36776052 36968161 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442736,nssv1442735 M 95 0 2 TRANK1 nsv3762 3 36810972 36844952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3156 S 9 1 0 TRANK1 NA12878 esv274105 3 36814121 36814261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580818,essv2579597 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269409 3 36814132 36814463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565752,essv2540704,essv2521302,essv2523077,essv2544077,essv2556783,essv2568126,essv2523281,essv2577617,essv2570584,essv2550782,essv2525251,essv2550309,essv2535306,essv2554061,essv2544281,essv2578052,essv2559463,essv2520039,essv2564288,essv2530757,essv2557422,essv2552485,essv2569536,essv2537173,essv2561454,essv2540430,essv2566839,essv2569091,essv2543726,essv2556239,essv2539370,essv2575765,essv2575056,essv2538782,essv2574682,essv2530271,essv2572862,essv2568519,essv2571457,essv2546126,essv2574413,essv2551522,essv2536208,essv2537909,essv2548902,essv2554504,essv2547659,essv2557946 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA10851,NA11829,NA11831,NA11894,NA11931,NA11992,NA11994,NA11995,NA12004,NA12043,NA12044,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12761,NA12776,NA12815,NA12828,NA12873,NA18499,NA18502,NA18508,NA18517,NA18523,NA18552,NA18853,NA18861,NA18870,NA18871,NA18912,NA19099,NA19102,NA19108,NA19138,NA19141,NA19143,NA19147,NA19238,NA19239,NA19240,NA19257 nsv834662 3 36847088 37049965 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442737,nssv1442738 M 95 0 2 EPM2AIP1,MLH1,TRANK1 esv1503716 3 36896273 36896273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275880 S 2 1 0 TRANK1 HuRef nsv834663 3 36982753 37165409 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442742,nssv1442739 M 95 0 2 EPM2AIP1,LRRFIP2,MLH1 esv1133148 3 37026112 37026168 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352025 S 2 0 1 MLH1 HuRef nsv834664 3 37084876 37267799 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442743 S 95 0 1 GOLGA4,LRRFIP2 nsv834665 3 37197468 37384583 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442744 S 95 0 1 GOLGA4 nsv876704 3 37294484 37506369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548576 S 6533 1 0 C3orf35,GOLGA4,ITGA9 MS17878 esv269812 3 37336564 37336649 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517422,essv2515082,essv2517931,essv2515975,essv2514234 M 157 5 0 Samples from several populations that are part of the HapMap project. GOLGA4 NA11918,NA12812,NA12872,NA12873,NA12874 esv23838 3 37415804 37416945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15455 S 451 0 1 C3orf35 NA19147 esv2619121 3 37427215 37431146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235923 S 1 0 1 C3orf35 NA18507 esv2213427 3 37427703 37430747 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936484 S 1 0 1 C3orf35 NA18507 esv26009 3 37427879 37430480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13311 S 451 0 3 C3orf35 NA18861,NA19108,NA19147 nsv519352 3 37428116 37429062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663490,nssv671720,nssv655563 M 2026 0 3 C3orf35 nsv518574 3 37490345 37492466 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696018 S 2026 1 0 ITGA9 nsv876705 3 37490831 37506369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552067 S 6533 0 1 ITGA9 MS19159 nsv876706 3 37490831 37523040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558542 S 6533 0 1 ITGA9 MS23340 nsv522176 3 37498640 37536951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694948 S 2026 0 1 ITGA9 esv24143 3 37500504 37501073 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19569 S 451 1 0 ITGA9 NA19240 nsv3763 3 37511872 37537705 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10337 S 9 1 0 ITGA9 NA18956 esv1931472 3 37528401 37528756 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558782 S 1 0 1 ITGA9 NA18507 esv1688032 3 37528484 37528539 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616446 S 2 0 1 ITGA9 HuRef esv271963 3 37579406 37579759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505114,essv2505564,essv2493490,essv2505005,essv2508809,essv2502770,essv2506188,essv2498281,essv2500364,essv2503287,essv2497324,essv2494538,essv2497185,essv2497814,essv2508331,essv2500166,essv2507622,essv2512724,essv2508423,essv2499252,essv2509200,essv2503700 M 157 22 0 Samples from several populations that are part of the HapMap project. ITGA9 NA11995,NA12154,NA12763,NA12828,NA12878,NA12892,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18561,NA18573,NA18576,NA18577,NA18582,NA18605,NA18909,NA18960 esv273307 3 37579407 37579741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582000,essv2582838 M 7 2 0 Samples from several populations that are part of the HapMap project. ITGA9 NA12878,NA12892 nsv876707 3 37642638 37750978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548577 S 6533 1 0 ITGA9 MS17878 nsv508910 3 37661594 37734346 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623370,nssv621195 M 4 2 0 ITGA9 NA15510,NA18994 nsv834666 3 37721832 37903512 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442746,nssv1442745 M 95 1 1 CTDSPL,ITGA9 esv1009667 3 37722533 37725147 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563890 S 3 1 0 ITGA9 HuRef esv1186705 3 37725170 37725170 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139312 S 2 1 0 ITGA9 HuRef esv1011375 3 37725199 37729948 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563657 S 3 1 0 ITGA9 HuRef esv28634 3 37726796 37728544 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13210 S 451 1 0 ITGA9 NA12414 nsv3764 3 37737740 37756340 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7788 S 9 1 0 ITGA9 NA12156 nsv3765 3 37772503 37817755 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5955 S 9 0 1 ITGA9 NA19129 nsv527466 3 37772976 37773508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703909 S 2026 0 1 ITGA9 esv23441 3 37773472 37775197 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10344 S 451 0 1 ITGA9 NA18508 dgv1447e1 3 37806487 38079228 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7414,esv165,essv24503,essv23605 M 271 0 0 CTDSPL,DLEC1,ITGA9,MIR26A1,PLCD1,VILL NA12006,NA12802,NA18623 nsv10262 3 37876785 37879859 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11832 S 31 1 0 Samples from several populations that are part of the HapMap project. CTDSPL NA18502 dgv1448e1 3 37880969 38079228 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16873,essv22674,essv4252,essv23925,essv11222 M 271 0 0 CTDSPL,DLEC1,MIR26A1,PLCD1,VILL NA12752,NA12814,NA18603,NA19204,NA19205 nsv428416 3 37880969 38079228 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454234 S 62 0 1 CTDSPL,DLEC1,MIR26A1,PLCD1,VILL HGDP00473 nsv522422 3 37889926 37915412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705775 S 2026 0 1 CTDSPL nsv3767 3 37924833 37968862 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7789 S 9 0 1 CTDSPL NA12156 nsv518995 3 37927598 37935595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696462 S 2026 0 1 CTDSPL nsv437702 3 37952421 37965104 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467583 S 60 0 1 Samples from several populations that are part of the HapMap project. CTDSPL NA10863 nsv437329 3 37952421 37971272 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467210 S 60 0 1 Samples from several populations that are part of the HapMap project. CTDSPL NA19205 nsv10263 3 37953404 37962534 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28090,nssv28773,nssv28518 M 31 0 3 Samples from several populations that are part of the HapMap project. CTDSPL NA10863,NA12802,NA18572 esv25990 3 37953474 37961880 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15670 S 451 0 2 CTDSPL NA12006,NA12749 dgv802n67 3 37954256 37961909 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822057,nsv822056 M 31 0 3 CTDSPL AK4,AK6,NA18969 esv2422037 3 37954886 37961932 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5045392,essv5106893,essv5149285,essv5010953,essv5002177,essv5081380,essv5117652,essv5106055,essv5068014,essv5027414,essv5145428,essv5123681,essv5150704,essv5113211,essv5034375,essv5116221,essv5090946,essv5121955,essv5029662,essv5024128,essv5135115,essv5007529,essv5115329,essv5048089,essv5009914,essv5021495,essv5077835,essv5079605,essv5126220,essv5131527,essv5010404,essv5065302,essv5048224,essv5122189,essv5106346,essv5059213,essv5002063,essv5125836,essv5023828,essv5008216,essv5062490,essv5008227,essv5063752,essv5009839,essv5047029,essv5033710,essv5126394,essv5086919,essv5138417,essv5021420,essv5111603,essv5097670,essv5130036,essv5115781,essv5003619,essv5072517,essv5033578,essv5160353,essv5047751,essv5066095,essv5013362,essv5055896,essv5133260,essv5009544,essv5052208,essv5075520,essv5132103,essv5055944,essv5134214,essv5107359,essv5079749,essv5025605,essv5040422,essv5099989,essv5026875,essv5132481,essv5113607,essv5149475,essv5026571,essv5157986,essv5154243,essv5111242,essv5077856,essv5088524,essv5005926,essv5059881,essv5156955,essv5082901,essv5140576,essv5003932,essv5136345,essv5088666,essv5129618,essv5154423,essv5088807,essv5146498,essv5028507,essv5049915,essv5114892,essv5105144,essv5018704,essv5023296,essv5130495,essv5053853,essv5031317,essv5140401,essv5065765,essv5041403,essv5018181,essv5127080,essv5053970,essv5134325,essv5073091,essv5088815,essv5091178 M 1184 0 115 CTDSPL NA07014,NA07031,NA07051,NA07345,NA07347,NA10863,NA11893,NA12006,NA12234,NA12264,NA12286,NA12340,NA12342,NA12749,NA12752,NA12760,NA12761,NA12802,NA12814,NA12815,NA17996,NA18127,NA18131,NA18133,NA18135,NA18144,NA18147,NA18152,NA18161,NA18546,NA18548,NA18550,NA18562,NA18572,NA18576,NA18597,NA18603,NA18609,NA18623,NA18624,NA18643,NA18685,NA18702,NA18704,NA18757,NA18946,NA18969,NA19062,NA19189,NA19191,NA19197,NA19204,NA19398,NA19656,NA19669,NA19708,NA19712,NA19723,NA19724,NA19779,NA19789,NA19790,NA20126,NA20128,NA20332,NA20504,NA20516,NA20518,NA20521,NA20528,NA20530,NA20531,NA20535,NA20754,NA20765,NA20768,NA20770,NA20775,NA20783,NA20792,NA20795,NA20799,NA20802,NA20804,NA20811,NA20813,NA20815,NA20816,NA20819,NA20847,NA20850,NA20852,NA20856,NA20859,NA20866,NA20872,NA20875,NA20877,NA20879,NA20882,NA20884,NA20890,NA21088,NA21102,NA21104,NA21109,NA21113,NA21143,NA21307,NA21378,NA21448,NA21453,NA21455,NA21577,NA21616 esv32619 3 37955959 37961139 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95291,essv96468,essv100163,essv94279 M 51 0 4 CTDSPL 21872,22261,22286,22394 nsv442857 3 37957108 37961932 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CTDSPL dgv600n27 3 37957465 37961253 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460503,nsv460492,nsv460498,nsv460496,nsv460504,nsv460497,nsv460499,nsv460501,nsv460495,nsv460502,nsv460500,nsv460493 M 1557 0 12 CTDSPL HGDP00019,HGDP00023,HGDP00563,HGDP00616,HGDP00648,HGDP00679,HGDP00735,HGDP00746,HGDP00783,HGDP00961,NINDS_165,NINDS_230 nsv517156 3 37957465 37961253 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676158,nssv673282,nssv669068,nssv664531,nssv672160,nssv657669,nssv675508,nssv673225,nssv690647,nssv660252,nssv688865,nssv657776,nssv687246,nssv675472,nssv661154,nssv659249,nssv672379,nssv652252,nssv670075,nssv686684,nssv656733,nssv688581,nssv677067,nssv667730,nssv692407,nssv652777,nssv686919,nssv660492,nssv669904,nssv659370,nssv654361,nssv672534,nssv678461,nssv664633,nssv680800,nssv676555,nssv668704,nssv691356,nssv693608,nssv659597,nssv682963,nssv686361,nssv668957,nssv660401,nssv657552,nssv693996,nssv653889,nssv668775,nssv654245,nssv654848,nssv663604,nssv681288,nssv659133,nssv689184,nssv669852,nssv663968,nssv692430,nssv693641,nssv667882,nssv683264,nssv684625,nssv670694,nssv658788,nssv690999,nssv692675,nssv675858,nssv655454,nssv690512 M 2026 0 68 CTDSPL nsv522017 3 37957465 37998557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694786 S 2026 0 1 CTDSPL,MIR26A1 nsv514147 3 37958620 37961944 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627580 S 1414 0 1 CTDSPL nsv522354 3 38001588 38038376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695133 S 2026 0 1 PLCD1,VILL nsv508911 3 38035790 38107567 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619319,nssv621196 M 4 2 0 DLEC1,PLCD1 NA10860,NA15510 nsv509821 3 38036927 38042927 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623901 S 4 0 1 PLCD1 NA18994 nsv822058 3 38040805 38041255 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429690 S 31 1 0 PLCD1 AK14 nsv819131 3 38054024 38061307 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419818 S 2 0 1 DLEC1 AK1 nsv820288 3 38101056 38101276 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418887 S 2 1 0 DLEC1 AK1 nsv237307 3 38129945 38130079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255885 M 24 DLEC1 esv1008921 3 38129954 38130088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575722 S 3 0 1 DLEC1 HuRef esv1683994 3 38129959 38130094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953180 S 2 0 1 DLEC1 HuRef esv274896 3 38217504 38238604 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585471 S 1250 0 1 OXSR1 nsv3768 3 38230027 38233254 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5956 S 9 1 0 OXSR1 NA19129 nsv3769 3 38282798 38318189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1669 S 9 1 0 SLC22A13 NA19240 nsv528237 3 38286957 38321783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704799 S 2026 0 1 SLC22A13 esv1004138 3 38343373 38343439 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582338 S 3 0 1 "" HuRef esv1510943 3 38343420 38343487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040692 S 2 0 1 "" HuRef nsv237015 3 38367697 38374705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255593 M 24 XYLB esv2584185 3 38374490 38375349 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323734 S 1 1 0 XYLB NA18507 esv271513 3 38374679 38374993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516632,essv2519263,essv2517013,essv2518667,essv2514724,essv2515328,essv2518556,essv2516558,essv2515620,essv2518062,essv2515976,essv2514251,essv2517757,essv2518208,essv2513679 M 157 15 0 Samples from several populations that are part of the HapMap project. XYLB NA07347,NA11881,NA11894,NA11931,NA12045,NA12234,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA19240 esv273653 3 38374679 38374993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581345,essv2581090 M 7 2 0 Samples from several populations that are part of the HapMap project. XYLB NA12878,NA19240 nsv238024 3 38374713 38377275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256602 M 24 XYLB nsv819153 3 38529992 38534238 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419619 S 2 1 0 EXOG AK1 nsv3770 3 38580614 38616870 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3092,nssv5957,nssv10338,nssv3157 M 9 4 0 SCN5A NA12878,NA18555,NA18956,NA19129 nsv876708 3 38586708 38635940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530475 S 6533 0 1 SCN5A MS10311 nsv876709 3 38586708 38661196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548578 S 6533 1 0 SCN5A MS17878 nsv508912 3 38600460 38668443 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621197,nssv618013 M 4 2 0 SCN5A CHM,NA15510 esv267664 3 38601047 38601132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516769,essv2519173,essv2515100,essv2517699,essv2513848,essv2519382 M 157 6 0 Samples from several populations that are part of the HapMap project. SCN5A NA07346,NA11881,NA11894,NA12812,NA12878,NA19143 esv272685 3 38601047 38601132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581446 S 7 1 0 Samples from several populations that are part of the HapMap project. SCN5A NA12878 nsv517802 3 38631037 38654368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695206 S 2026 0 1 SCN5A nsv876710 3 38640927 38694939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590148 S 6533 1 0 SCN5A IS38463 nsv819980 3 38666010 38667589 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419287 S 2 0 1 SCN5A AK1 nsv527515 3 38763510 38817916 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703969 S 2026 0 1 SCN10A nsv519335 3 38818651 38822156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655477,nssv693193 M 2026 0 2 "" nsv876711 3 38858856 38933014 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508515 S 6533 1 0 SCN11A SP54722 esv2574623 3 38893397 38895115 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234053 S 1 0 1 SCN11A NA18507 esv1088777 3 38893578 38893979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629989 S 2 0 1 SCN11A HuRef dgv1449e1 3 38908752 39071102 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv184,essv10678,essv13417 M 271 0 0 SCN11A,WDR48 NA18855,NA19192 esv29050 3 38964038 38966164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19667 S 451 0 1 SCN11A NA18502 esv21456 3 39001323 39002868 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20604 S 451 0 3 "" NA18502,NA18508,NA18861 nsv3771 3 39032315 39059327 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5958 S 9 1 0 "" NA19129 nsv441820 3 39174068 39188061 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv803n67 3 39174176 39190169 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822060,nsv822059 M 31 0 2 "" NA18947,NA18972 esv2535394 3 39190750 39191333 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391675 S 1 1 0 "" NA18507 esv270380 3 39226275 39226554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512556,essv2511877,essv2510726,essv2493220,essv2493526,essv2498740,essv2502107 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18499,NA18501,NA18504,NA19137,NA19138,NA19257 nsv3772 3 39257006 39290462 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7790 S 9 1 0 CX3CR1 NA12156 nsv236394 3 39263970 39263970 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254972 M 24 "" esv27240 3 39264685 39265733 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12247 S 451 0 1 "" NA19257 esv1011195 3 39305872 39309519 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564322 S 3 1 0 "" HuRef esv273883 3 39306094 39306283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584665,essv2583796 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv518801 3 39312945 39372712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696254 S 2026 0 1 CCR8 esv29441 3 39326489 39389083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18907 S 451 0 1 CCR8 NA18858 nsv460509 3 39332309 39372712 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537068 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCR8 HGDP00458 nsv509822 3 39419750 39425750 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622025 S 4 0 1 RPSA,SNORA6 NA10860 nsv237887 3 39444180 39444180 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256465 M 24 "" nsv523462 3 39468862 39475164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699220 S 2026 0 1 "" nsv520957 3 39475148 39491489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697708 S 2026 0 1 MOBP esv2425951 3 39484870 39486456 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362991 S 1 0 1 MOBP NA18507 nsv236980 3 39485509 39485750 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255558 M 24 MOBP esv1395867 3 39485749 39485749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714348 S 2 1 0 MOBP HuRef esv1680226 3 39485844 39485844 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999555 S 2 1 0 MOBP HuRef dgv1450e1 3 39509276 39530501 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1340,essv15909 M 271 0 0 MOBP NA19205 esv274536 3 39551203 39551422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579007 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv876712 3 39557928 39653716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551545 S 6533 0 1 "" MS18933 esv34019 3 39567646 39615625 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv1442440 3 39736993 39737047 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327750 S 2 0 1 "" HuRef dgv5125n71 3 39866798 39913519 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876714,nsv876713 M 6533 0 2 MYRIP SP50061,SP56004 nsv517803 3 39876028 40007962 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695207 S 2026 1 0 MYRIP nsv523927 3 39883849 39906519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699772 S 2026 0 1 MYRIP nsv3773 3 39884752 39918165 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7791 S 9 1 0 MYRIP NA12156 nsv520165 3 39941630 39950123 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697258 S 2026 1 0 MYRIP nsv460510 3 39967978 40007962 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537069 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYRIP HGDP01321 nsv470538 3 39978163 40007962 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547179 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYRIP HGDP01321 esv1686953 3 40100822 40100822 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008227 S 2 1 0 MYRIP HuRef esv1407814 3 40101747 40101747 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587533 S 2 1 0 MYRIP HuRef esv4522 3 40107574 40108085 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26963 S 1 0 1 Single Asian sample YH MYRIP YH nsv834667 3 40165548 40333556 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442747 S 95 1 0 EIF1B,FLJ33065,MYRIP nsv876715 3 40201689 40284229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548579 S 6533 1 0 FLJ33065,MYRIP MS17878 nsv509823 3 40208725 40214725 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623902,nssv621551 M 4 0 2 FLJ33065,MYRIP NA15510,NA18994 esv269922 3 40216592 40216937 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557871,essv2521372,essv2571013,essv2556764,essv2568240,essv2545571,essv2523138,essv2577191,essv2570566,essv2521505,essv2576640,essv2525507,essv2544256,essv2558491,essv2564323,essv2561781,essv2556880,essv2561370,essv2544863,essv2562992,essv2523559,essv2542657,essv2540314,essv2561279,essv2539556,essv2549520,essv2519751,essv2560101,essv2530900,essv2532525,essv2570160,essv2563735,essv2535892,essv2572561,essv2559274,essv2569139,essv2555399,essv2533553,essv2555494,essv2566344,essv2530036,essv2573831,essv2534496,essv2522338,essv2573504,essv2576942,essv2572100,essv2529503,essv2572682,essv2536213,essv2532954,essv2554727,essv2547926 M 157 53 0 Samples from several populations that are part of the HapMap project. FLJ33065,MYRIP NA06986,NA07051,NA07346,NA07347,NA10851,NA11894,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12156,NA12414,NA12750,NA12751,NA12874,NA18501,NA18523,NA18526,NA18532,NA18537,NA18550,NA18552,NA18562,NA18563,NA18564,NA18566,NA18570,NA18573,NA18576,NA18593,NA18603,NA18608,NA18609,NA18638,NA18861,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18959,NA18960,NA18964,NA18970,NA18973,NA19093,NA19143 nsv512798 3 40220039 40221329 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625431 S 1 1 0 FLJ33065,MYRIP 1 esv1251654 3 40220514 40220514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332515 S 2 1 0 FLJ33065,MYRIP HuRef esv1700873 3 40220547 40220547 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877874 S 2 1 0 FLJ33065,MYRIP HuRef nsv3774 3 40279808 40324710 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7792 S 9 0 1 FLJ33065 NA12156 nsv520025 3 40337126 40409100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697184 S 2026 0 1 ENTPD3,ENTPD3-AS1 nsv876716 3 40349555 40686361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548580 S 6533 1 0 ENTPD3,ENTPD3-AS1,RPL14,ZNF619,ZNF620,ZNF621 MS17878 nsv818137 3 40443900 40541004 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418440 S 112 0 1 ENTPD3,ENTPD3-AS1,RPL14,ZNF619,ZNF620 NA19192 nsv876717 3 40482336 40521838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505327 S 6533 0 1 ZNF619 SP53402 nsv3775 3 40633107 40665485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5959 S 9 1 0 "" NA19129 nsv3776 3 40805128 40839137 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7793 S 9 1 0 "" NA12156 nsv237398 3 40913039 40913039 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255976 M 24 "" nsv3778 3 40913609 40946382 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3158 S 9 1 0 "" NA12878 esv2505426 3 40983106 40984122 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282991 S 1 1 0 "" NA18507 esv273691 3 40983643 40983786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580961,essv2579184,essv2579813 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv876718 3 41060463 41136347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582816,nssv1571011,nssv1595331 M 6533 0 3 "" IS32446,IS36172,IS40227 esv274874 3 41218720 41230215 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586156 S 1250 0 1 CTNNB1 esv275482 3 41232853 41236530 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585294,essv2585552 M 1250 1 1 CTNNB1 esv275401 3 41243988 41254851 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585794,essv2585683 M 1250 1 1 CTNNB1 nsv521572 3 41303186 41334538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698188 S 2026 0 1 ULK4 nsv3779 3 41308704 41826208 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1670,nssv7794 M 9 0 2 ULK4 NA12156,NA19240 esv7348 3 41311683 41312218 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29789 S 1 0 1 ULK4 SJK dgv1451e1 3 41314156 41748757 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv543,essv3708 M 271 0 0 ULK4 NA18947 nsv834670 3 41314158 41461422 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442748 S 95 1 0 ULK4 nsv822061 3 41318179 41331112 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426537 S 31 1 0 ULK4 AK6 nsv460512 3 41334538 41761013 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537070 S 1557 0 1 ULK4 1798860049_A nsv526908 3 41334538 41761013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703268 S 2026 0 1 ULK4 esv2515231 3 41337147 41338404 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303279 S 1 0 0 ULK4 NA18507 nsv436705 3 41337863 41342037 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465996 S 2 0 0 Samples from several populations that are part of the HapMap project. ULK4 NA18505 esv34828 3 41381332 41482500 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988305,essv6980058,essv6980059,essv6980060 M 771 0 1 ULK4 NA18947 nsv822062 3 41382769 41485137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432726,nssv1425250 M 31 0 2 ULK4 NA18947,NA18972 essv602 3 41395796 41501946 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ULK4 NA18947 nsv10264 3 41468819 41473216 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11967 S 31 0 1 Samples from several populations that are part of the HapMap project. ULK4 NA19132 esv272163 3 41486184 41486579 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579270,essv2579528 M 7 2 0 Samples from several populations that are part of the HapMap project. ULK4 NA19239,NA19240 esv269566 3 41486219 41486569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493237,essv2494690,essv2494869,essv2508959,essv2513478,essv2495492,essv2501223,essv2499037,essv2510837,essv2509416,essv2498688,essv2511965,essv2502225 M 157 13 0 Samples from several populations that are part of the HapMap project. ULK4 NA18504,NA18519,NA18520,NA18522,NA18907,NA18916,NA19093,NA19114,NA19116,NA19129,NA19138,NA19238,NA19257 nsv460513 3 41505934 41562681 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537071 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ULK4 HGDP01234 nsv822063 3 41507617 41515759 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431948 S 31 1 0 ULK4 AK20 dgv5126n71 3 41514644 41559511 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876720,nsv876719 M 6533 0 3 ULK4 SP50555,SP52412,SP54063 nsv876721 3 41535096 41642549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526490,nssv1528380,nssv1521775 M 6533 0 3 ULK4 SP52574,SP57600,SP81212 esv33980 3 41543434 41544910 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98829 S 51 0 1 ULK4 21606 nsv876722 3 41560623 41716900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523230 S 6533 0 1 ULK4 SP53803 esv25423 3 41562421 41570628 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17810,esv18360 M 451 0 2 ULK4 NA18508,NA19257 nsv10265 3 41573753 41581786 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28842,nssv28819 M 31 0 2 Samples from several populations that are part of the HapMap project. ULK4 NA18537,NA18942 nsv822064 3 41573755 41575486 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439583,nssv1434984 M 31 0 2 ULK4 NA18537,NA18942 nsv460514 3 41581696 41701066 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537072 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ULK4 HGDP01236 nsv876723 3 41586232 41612578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507754 S 6533 0 1 ULK4 SP54663 nsv876724 3 41586232 41642549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552245 S 6533 0 1 ULK4 MS19303 nsv822066 3 41589078 41611475 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432727,nssv1425262 M 31 0 2 ULK4 NA18947,NA18972 dgv601n27 3 41592860 41613278 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460516,nsv460515 M 1557 0 2 ULK4 HGDP01099,HGDP01352 nsv460518 3 41592860 41645175 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537075 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ULK4 HGDP00782 nsv876725 3 41605737 41686118 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548581 S 6533 1 0 ULK4 MS17878 nsv876726 3 41701066 41859754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553338 S 6533 0 1 ULK4 MS19941 esv21465 3 41707000 41708770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14760 S 451 0 1 ULK4 NA12828 esv2612939 3 41740877 41742365 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284962 S 1 0 1 ULK4 NA18507 esv22080 3 41754111 41764005 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14548 S 451 0 1 ULK4 NA19147 esv2421817 3 41755151 41763496 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5086528,essv5138201,essv5050376,essv5047464,essv5137117,essv5065511,essv5134189,essv5107526,essv5026307,essv5124475,essv5020745,essv5116624,essv5013954,essv5029381,essv5091600,essv5054987,essv5158236,essv5089084,essv5107430,essv5049631,essv5120723,essv5029466,essv5099160,essv5096869,essv5123654,essv5011872 M 1184 0 26 ULK4 NA18484,NA18488,NA18871,NA18934,NA18935,NA19095,NA19097,NA19098,NA19147,NA19181,NA19183,NA19318,NA19382,NA19391,NA19652,NA19653,NA19712,NA20349,NA20350,NA21314,NA21320,NA21423,NA21524,NA21600,NA21635,NA21678 nsv441822 3 41755151 41763499 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ULK4 nsv514148 3 41756932 41758292 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627582 S 1414 0 1 ULK4 nsv876727 3 41773145 41834977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561954 S 6533 0 1 ULK4 MS25304 nsv876728 3 41773145 41859754 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521192,nssv1555129,nssv1580597,nssv1551644 M 6533 1 3 ULK4 IS35388,MS18965,MS21195,SP52271 nsv876729 3 41773145 41971140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567642 S 6533 0 1 ULK4 IS31137 esv2517592 3 41792475 41797134 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215730 S 1 0 1 ULK4 NA18507 esv2033492 3 41792903 41796682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805862 S 1 0 1 ULK4 NA18507 esv23866 3 41807538 41809163 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16923 S 451 0 1 ULK4 NA11894 esv27077 3 41837626 41838925 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21319 S 451 0 3 ULK4 NA18505,NA18907,NA19257 esv2179832 3 41871505 41871949 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808993 S 1 0 1 ULK4 NA18507 nsv236421 3 41873081 41873136 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254999 M 24 ULK4 nsv470550 3 41875660 42026840 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547190 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ULK4 HGDP00905 nsv460519 3 41875660 42042381 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537076 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ULK4 HGDP00905 esv27477 3 41882723 41915524 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15105 S 451 1 0 ULK4 NA12287 nsv3780 3 41904897 41949787 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7795 S 9 0 1 ULK4 NA12156 nsv460520 3 41935010 42156400 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537077 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRAK1,ULK4 HGDP01340 esv270192 3 41979079 41979164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513928 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv32892 3 42104857 42108196 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100803 S 51 1 0 TRAK1 21656 nsv834671 3 42105746 42279002 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442749 S 95 1 0 CCK,TRAK1 esv34472 3 42289659 42366484 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987790,essv6980424,essv6980425 M 771 0 1 "" NA19171 dgv1452e1 3 42335110 42378384 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1235,essv8893 M 271 0 0 "" NA19171 esv27429 3 42346226 42347022 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13806 S 451 1 0 "" NA12239 nsv10266 3 42349839 42351945 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28757,nssv11931,nssv28464,nssv29151,nssv28994 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18563,NA18860,NA18975,NA19144 esv987521 3 42366902 42367244 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565810 S 3 1 0 "" HuRef esv6958 3 42455411 42455514 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29399 S 1 1 0 "" SJK nsv527430 3 42509046 42532203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703869 S 2026 0 1 VIPR1 nsv876730 3 42618939 42642940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499968 S 6533 0 1 NKTR SP50649 nsv3781 3 42646613 42677631 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10339 S 9 1 0 NKTR,ZBTB47 NA18956 nsv876731 3 42665289 42686659 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511337 S 6533 0 1 ZBTB47 SP55021 nsv3782 3 42748483 42780442 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10341 S 9 1 0 CCDC13 NA18956 nsv236207 3 42800590 42804092 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254785 M 24 HIGD1A esv1004289 3 42813115 42816223 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565760 S 3 0 1 HIGD1A HuRef nsv435763 3 42813245 42818146 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465997 S 2 0 1 HIGD1A NA15510 nsv513043 3 42813251 42815998 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626526 S 1 0 1 HIGD1A 1 esv4812 3 42813347 42815897 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27253 S 1 0 1 Single Asian sample YH HIGD1A YH esv1232041 3 42813377 42815831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145964 S 2 0 1 HIGD1A HuRef esv6998 3 42813381 42815825 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29439 S 1 0 1 HIGD1A SJK esv267929 3 42840431 42840859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504000 S 157 1 0 Samples from several populations that are part of the HapMap project. CCBP2 hapmap_pooled_sample_set esv22156 3 42868267 42868966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15146 S 451 0 1 CCBP2 NA19240 esv271828 3 42873394 42873731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540756,essv2546359,essv2526012,essv2542312,essv2536509,essv2543954,essv2570943,essv2568104,essv2577224,essv2521875,essv2550580,essv2535053,essv2553939,essv2564344,essv2559741,essv2565217,essv2576487,essv2564110,essv2561756,essv2537650,essv2546837,essv2544607,essv2562933,essv2523825,essv2553080,essv2541332,essv2542973,essv2540529,essv2524460,essv2564976,essv2534746,essv2539809,essv2549228,essv2519510,essv2560131,essv2566221,essv2531047,essv2567962,essv2567301,essv2541609,essv2570245,essv2563606,essv2553297,essv2535606,essv2559231,essv2578325,essv2573002,essv2555641,essv2566573,essv2529978,essv2573889,essv2527416,essv2557655,essv2555840,essv2534463,essv2522423,essv2531481,essv2571928,essv2525573,essv2526864,essv2535972,essv2538039,essv2548893,essv2554797,essv2525056,essv2563487 M 157 66 0 Samples from several populations that are part of the HapMap project. CCBP2 NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA11831,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12043,NA12144,NA12155,NA12249,NA12287,NA12751,NA12776,NA12812,NA12814,NA12828,NA12874,NA12878,NA12892,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18940,NA18942,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18973,NA18980,NA19005 esv274632 3 42873397 42873709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581782,essv2583168 M 7 2 0 Samples from several populations that are part of the HapMap project. CCBP2 NA12878,NA12892 nsv3783 3 42901227 42945601 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7796 S 9 0 1 ZNF662 NA12156 nsv460523 3 43000990 43038410 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537078 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM198A HGDP00514 nsv236200 3 43004506 43006848 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254778 M 24 FAM198A nsv513044 3 43005483 43007104 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626527 S 1 0 1 FAM198A 1 esv2200110 3 43005904 43006620 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766689 S 1 0 1 FAM198A NA18507 esv2496441 3 43005921 43007278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216211 S 1 0 1 FAM198A NA18507 esv3313 3 43006012 43006518 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25754 S 1 0 1 Single Asian sample YH FAM198A YH esv1005787 3 43006098 43006425 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583427 S 3 0 1 FAM198A HuRef esv1510992 3 43006110 43006438 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875104 S 2 0 1 FAM198A HuRef nsv237088 3 43006111 43006438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255666 M 24 FAM198A esv7584 3 43006119 43006402 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30025 S 1 0 1 FAM198A SJK esv27501 3 43028233 43034809 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18139 S 451 1 0 FAM198A NA12044 nsv834672 3 43107726 43281276 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442750 S 95 0 1 C3orf39 nsv3784 3 43151401 43196258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7797 S 9 0 1 "" NA12156 nsv3785 3 43202483 43236664 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1672 S 9 1 0 "" NA19240 esv2752008 3 43260373 43335883 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983756,essv6986502,essv6983757 M 771 1 0 SNRK BEC_621 esv267651 3 43291500 43291769 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516491 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv2458138 3 43294998 43295974 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195399 S 1 1 0 "" NA18507 nsv876732 3 43301891 43335883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514679 S 6533 0 1 SNRK SP56047 esv22433 3 43302798 43303643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14554 S 451 0 1 SNRK NA12489 esv5543 3 43392550 43402491 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27984 S 1 0 0 ANO10 SJK esv1011105 3 43540784 43540784 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581608 S 3 1 0 ANO10 HuRef esv1480257 3 43540785 43540785 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290936 S 2 1 0 ANO10 HuRef dgv804n67 3 43559580 43567364 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822069,nsv822067,nsv822068 M 31 0 6 ANO10 NA18526,NA18547,NA18570,NA18592,NA18947,NA18972 nsv822070 3 43560013 43571688 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434985 S 31 0 1 ANO10 NA18942 nsv820135 3 43560315 43569456 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418565 S 2 0 1 ANO10 AK1 esv2525562 3 43566746 43567788 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325634 S 1 1 0 ANO10 NA18507 esv270605 3 43567101 43567246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512531,essv2494244,essv2503031,essv2505191,essv2500985,essv2505831,essv2506452 M 157 7 0 Samples from several populations that are part of the HapMap project. ANO10 NA18489,NA18502,NA18507,NA18853,NA18856,NA18861,NA19108 nsv834673 3 43597989 43774880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442751 S 95 1 0 ABHD5,ANO10 nsv876733 3 43743022 43829673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521418 S 6533 0 1 "" SP52371 nsv3786 3 43830608 43859939 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7798 S 9 0 1 "" NA12156 nsv3787 3 44022745 44057203 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3093 S 9 1 0 "" NA18555 nsv834674 3 44084421 44281588 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442753 S 95 1 0 C3orf77,MIR138-1 esv29540 3 44128606 44130485 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16451 S 451 0 1 "" NA18909 nsv3789 3 44192178 44223929 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7003 S 9 1 0 "" NA12156 esv271452 3 44315267 44315352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514617,essv2514930,essv2515534,essv2514229,essv2517618,essv2518352,essv2513711 M 157 7 0 Samples from several populations that are part of the HapMap project. C3orf77 NA07347,NA11840,NA12812,NA12815,NA12874,NA12878,NA19240 esv274470 3 44315267 44315352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581333,essv2581253 M 7 2 0 Samples from several populations that are part of the HapMap project. C3orf77 NA12878,NA19240 esv2422854 3 44377352 44378772 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178063 S 1 0 1 C3orf23 NA18507 nsv528038 3 44400995 44436042 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704570 S 2026 1 0 C3orf23 dgv282n21 3 44400995 44436908 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525792,nsv519315 M 2026 0 2 C3orf23 esv1002255 3 44424414 44435904 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564226 S 3 0 1 C3orf23 HuRef nsv527472 3 44436042 44436908 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703915 S 2026 0 1 "" nsv3790 3 44586503 44617148 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3159 S 9 1 0 ZNF167,ZNF660 NA12878 esv990682 3 44704634 44725124 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565478 S 3 0 0 "" HuRef nsv513647 3 44714197 44717163 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626899 S 1 0 0 "" 1 esv2530582 3 44716008 44717333 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304705 S 1 0 0 "" NA18507 esv1747112 3 44716017 44717266 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140865 S 2 0 0 "" HuRef nsv513648 3 44716118 44719391 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626900 S 1 0 0 "" 1 nsv3791 3 44813959 44848832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3160 S 9 1 0 KIF15 NA12878 nsv834675 3 44821716 44982877 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442754 S 95 1 0 KIF15,MIR564,TGM4,TMEM42,ZDHHC3 nsv822071 3 44840818 44841906 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440956 S 31 0 1 KIF15 NA18969 nsv3792 3 44853184 44897823 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7799 S 9 0 1 KIF15,MIR564,TGM4,TMEM42 NA12156 nsv521765 3 44915417 44926438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694532 S 2026 0 1 TGM4 nsv834676 3 44945203 45165852 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442771,nssv1442762,nssv1442759,nssv1442757,nssv1442758,nssv1442756,nssv1442760,nssv1442767,nssv1442770,nssv1442761,nssv1442766,nssv1442765,nssv1442764,nssv1442769,nssv1442768,nssv1442755 M 95 7 9 CDCP1,CLEC3B,EXOSC7,ZDHHC3 nsv508914 3 45021142 45063918 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619320 S 4 1 0 CLEC3B,EXOSC7 NA10860 esv2343097 3 45048156 45048575 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702857 S 1 0 1 CLEC3B NA18507 nsv523767 3 45113519 45114105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699588 S 2026 0 1 CDCP1 esv1680465 3 45125260 45125432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102139 S 2 0 1 CDCP1 HuRef nsv512799 3 45149858 45150366 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625433 S 1 1 0 CDCP1 1 esv2626441 3 45149860 45150350 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375116 S 1 1 0 CDCP1 NA18507 nsv3793 3 45227836 45258467 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7004 S 9 1 0 TMEM158 NA12156 esv1001860 3 45256465 45259710 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565481 S 3 1 0 "" HuRef esv1010464 3 45293639 45299145 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565453 S 3 0 1 "" HuRef esv2603212 3 45319693 45321308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205955 S 1 0 1 "" NA18507 nsv834677 3 45359766 45527711 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442772 S 95 1 0 LARS2 nsv460524 3 45372990 45381596 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537079 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01269 nsv3794 3 45457472 45490679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7800 S 9 1 0 LARS2 NA12156 esv270992 3 45517638 45517965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557860,essv2576115,essv2540736,essv2571675,essv2521029,essv2536531,essv2523039,essv2543943,essv2570838,essv2556569,essv2568256,essv2545329,essv2523298,essv2531867,essv2577365,essv2570428,essv2521824,essv2576517,essv2550776,essv2525442,essv2535071,essv2553919,essv2552299,essv2520703,essv2547373,essv2529153,essv2558626,essv2564685,essv2553873,essv2559658,essv2565450,essv2554856,essv2530541,essv2562023,essv2537705,essv2528484,essv2547080,essv2557348,essv2544717,essv2523878,essv2552810,essv2541221,essv2542723,essv2540476,essv2524735,essv2565177,essv2534807,essv2561191,essv2539910,essv2549296,essv2519592,essv2560163,essv2565976,essv2531068,essv2532663,essv2568046,essv2567482,essv2541783,essv2570203,essv2563762,essv2553331,essv2572410,essv2559125,essv2542043,essv2527797,essv2578466,essv2573219,essv2555276,essv2533485,essv2555674,essv2567284,essv2566527,essv2529951,essv2527406,essv2556117,essv2534307,essv2522393,essv2531535,essv2573365,essv2543329,essv2572142,essv2526794,essv2529561,essv2538810,essv2568449,essv2536134,essv2538063,essv2548764,essv2532967,essv2554573,essv2547843,essv2524969 M 157 92 0 Samples from several populations that are part of the HapMap project. LARS2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11840,NA11894,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18856,NA18907,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19093,NA19108,NA19147 esv274389 3 45517641 45517966 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581652,essv2582635,essv2582902 M 7 3 0 Samples from several populations that are part of the HapMap project. LARS2 NA12878,NA12891,NA12892 esv1659959 3 45517666 45517666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193767 S 2 1 0 LARS2 HuRef esv25561 3 45518291 45527068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19540 S 451 0 2 LARS2 NA12776,NA12828 esv34130 3 45584079 45771661 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LIMD1,LOC644714,SACM1L dgv106e180 3 45584721 45585306 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010456,esv996789 M 3 0 1 "" HuRef nsv236202 3 45584812 45585223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254780 M 24 "" esv4677 3 45584831 45585462 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27118 S 1 0 1 Single Asian sample YH "" YH esv1259691 3 45584851 45585267 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922110 S 2 0 1 "" HuRef esv7242 3 45584911 45585274 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29683 S 1 0 1 "" SJK nsv3795 3 45630356 45663936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5960 S 9 1 0 LIMD1 NA19129 nsv876734 3 45700035 46443471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550981 S 6533 1 0 CCR1,CCR2,CCR3,CCR5,CCR9,CCRL2,CXCR6,FYCO1,LOC644714,LZTFL1,SACM1L,SLC6A20,XCR1 MS18695 esv33645 3 45708302 45708456 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100988,essv95101,essv97796,essv93097,essv96442,essv100549 M 51 0 6 SACM1L 21693,21721,21837,21863,22261,22298 nsv819738 3 45723271 45723532 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419525 S 2 1 0 SACM1L AK1 nsv876735 3 45739250 45807056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548171,nssv1562543 M 6533 0 2 SACM1L,SLC6A20 MS17723,MS25627 esv2554417 3 45743024 45744605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251973 S 1 0 1 SACM1L NA18507 esv1993720 3 45743160 45743888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552718 S 1 0 1 SACM1L NA18507 esv1482139 3 45743365 45743690 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210913 S 2 0 1 SACM1L HuRef nsv834678 3 45779298 45985260 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442773 S 95 1 0 CCR9,CXCR6,FYCO1,LZTFL1,SLC6A20 esv267840 3 45784448 45784533 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515671 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC6A20 NA12815 esv2192183 3 45805872 45806280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786536 S 1 0 1 SLC6A20 NA18507 esv1614687 3 45806060 45806114 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022639 S 2 0 1 SLC6A20 HuRef nsv3796 3 45825965 45861049 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7005 S 9 0 1 LZTFL1 NA12156 nsv3797 3 45868626 45902729 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1673 S 9 1 0 "" NA19240 nsv876736 3 45875625 46002414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548582 S 6533 1 0 CCR9,CXCR6,FYCO1 MS17878 esv2462115 3 45906355 45907444 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232473 S 1 1 0 CCR9 NA18507 dgv1453e1 3 45991468 46095404 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10714,esv1208,essv14014 M 271 0 0 FYCO1,XCR1 NA18508,NA19222 esv2169864 3 46020687 46021306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712124 S 1 0 1 "" NA18507 esv3065 3 46020845 46021230 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25506 S 1 0 1 Single Asian sample YH "" YH esv6097 3 46020879 46021141 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28538 S 1 0 1 "" SJK nsv237512 3 46020881 46021133 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256090 M 24 "" nsv507092 3 46124497 46130497 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622852,nssv620760 M 4 2 0 "" NA15510,NA18994 esv2464539 3 46198237 46199713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196259 S 1 0 1 "" NA18507 esv1267993 3 46199095 46199158 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360002 S 2 0 1 "" HuRef esv271120 3 46387974 46388059 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517130 S 157 1 0 Samples from several populations that are part of the HapMap project. CCR5 hapmap_pooled_sample_set dgv1454e1 3 46394638 46419798 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12441,esv1141 M 271 0 0 "" NA19152 nsv10267 3 46398134 46415717 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12570 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv272750 3 46525775 46525930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582027,essv2582808 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv876737 3 46544725 46570435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513075 S 6533 0 1 LRRC2 SP55683 nsv507093 3 46545863 46551863 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621700 S 4 1 0 LRRC2 NA10860 nsv876738 3 46614052 46655067 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547747 S 6533 1 0 LOC100132146 MS17534 dgv5127n71 3 46631984 46738843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876740,nsv876739,nsv876741 M 6533 6 0 ALS2CL,LOC100132146,PRSS46,PRSS50,TMIE IS36536,IS38386,MS14702,MS16049,MS21225,MS22741 esv273165 3 46636828 46637089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579220 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100132146 NA19239 esv270962 3 46636829 46637159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536802,essv2523048,essv2544173,essv2545584,essv2523419,essv2531900,essv2577205,essv2570564,essv2548174,essv2521736,essv2550338,essv2535236,essv2553970,essv2544426,essv2551988,essv2520604,essv2547332,essv2529230,essv2558454,essv2553586,essv2576268,essv2554839,essv2530460,essv2520984,essv2556933,essv2552467,essv2551661,essv2558836,essv2536946,essv2539163,essv2569685,essv2561471,essv2563004,essv2523797,essv2538277,essv2542847,essv2564914,essv2534767,essv2539827,essv2549141,essv2522266,essv2530988,essv2567596,essv2570077,essv2563774,essv2535746,essv2559040,essv2569078,essv2543736,essv2556365,essv2562492,essv2539273,essv2534085,essv2578310,essv2572966,essv2533616,essv2529963,essv2527723,essv2543338,essv2525693,essv2575441,essv2575302,essv2526651,essv2560803,essv2530320,essv2572778,essv2548055,essv2549914,essv2571412,essv2545790,essv2574290,essv2551367,essv2549084,essv2533097,essv2554647,essv2525198,essv2563418,essv2558018 M 157 78 0 Samples from several populations that are part of the HapMap project. LOC100132146 NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11920,NA11931,NA11992,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12763,NA12814,NA12872,NA18486,NA18498,NA18501,NA18502,NA18504,NA18516,NA18517,NA18519,NA18520,NA18523,NA18532,NA18537,NA18547,NA18550,NA18558,NA18561,NA18563,NA18564,NA18571,NA18573,NA18582,NA18593,NA18603,NA18608,NA18638,NA18861,NA18870,NA18871,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18949,NA18952,NA18965,NA18980,NA19099,NA19102,NA19114,NA19137,NA19141,NA19143,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 nsv516623 3 46655067 46827683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656807,nssv674854,nssv669627,nssv674543,nssv683898,nssv659277,nssv684369,nssv659435,nssv672630 M 2026 0 9 ALS2CL,PRSS45,PRSS46,PRSS50,TMIE dgv1455e1 3 46655456 46947493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8775,essv10530,essv12227,essv14602,essv16854,essv15889,essv17902,essv15047,essv12565,essv16101,essv9184,essv12518,essv15271,essv14169,essv10371,essv9900,essv16961,essv16343,essv14276,essv10121,essv8085,esv136,essv13102,essv9416,essv13419,essv12990,essv10081,essv11254,essv12397,essv12625 M 271 0 0 ALS2CL,CCDC12,MYL3,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,TMIE NA12003,NA18500,NA18852,NA18859,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19128,NA19129,NA19130,NA19140,NA19144,NA19145,NA19192,NA19193,NA19194,NA19204,NA19205,NA19206,NA19207,NA19208,NA19222,NA19223,NA19238,NA19240 nsv428417 3 46655456 47795051 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454236,nssv454241,nssv454239,nssv454237,nssv454240,nssv454242,nssv454238 M 62 0 7 ALS2CL,C3orf75,CCDC12,CSPG5,FLJ39534,KIF9,KLHL18,MYL3,NBEAL2,NRADDP,PRSS42,PRSS45,PRSS46,PRSS50,PTH1R,PTPN23,SCAP,SETD2,SMARCC1,TMIE HGDP00449,HGDP00472,HGDP01094,NA19108,NA19113,NA19189,NA19225 dgv5128n71 3 46680373 46738843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876742,nsv876744 M 6533 0 2 ALS2CL,PRSS46,PRSS50,TMIE IS39233,MS17208 nsv10268 3 46682173 46711722 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12600 S 31 1 0 Samples from several populations that are part of the HapMap project. ALS2CL NA19221 nsv876743 3 46691527 46728581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575005 S 6533 0 1 ALS2CL,TMIE IS33684 nsv876745 3 46728980 46859556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572198 S 6533 0 1 PRSS42,PRSS45,PRSS46,PRSS50 IS32891 esv33334 3 46752813 46766435 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98776,essv100786 M 51 2 0 PRSS45,PRSS46 21606,21656 nsv3798 3 46753634 46840610 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9617,nssv1674,nssv5961 M 9 0 3 PRSS45 NA18507,NA19129,NA19240 nsv876746 3 46753992 46806779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556039 S 6533 0 1 PRSS45 MS21771 esv2558089 3 46756955 46758434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175471 S 1 0 1 "" NA18507 esv1604344 3 46757699 46757755 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662669 S 2 0 1 "" HuRef esv28508 3 46758249 46758772 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11955 S 451 0 4 PRSS45 NA18505,NA18907,NA18909,NA19108 dgv5129n71 3 46760359 46842689 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876748,nsv876749,nsv876750,nsv876751,nsv876747 M 6533 0 52 PRSS45 IS30316,IS30389,IS30477,IS31799,IS32679,IS32787,IS33136,IS33166,IS33345,IS33419,IS33721,IS33836,IS34310,IS35242,IS35319,IS35388,IS35682,IS36536,IS37214,IS37292,IS37683,IS37946,IS38336,IS38371,IS38384,IS40086,IS40137,IS40299,IS40402,IS40739,IS40834,IS41317,IS41404,IS41448,IS41839,MS10413,MS11326,MS14384,MS14562,MS15277,MS15389,MS16060,MS16211,MS16408,MS16926,MS17389,MS17691,MS17830,MS19356,MS20356,SP57278,SP57553 dgv31n50 3 46765401 46827683 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511232,nsv513045 M 1 0 1 "" 1 nsv10269 3 46769108 46826721 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11491,nssv12044,nssv11862,nssv12630,nssv28795,nssv11961,nssv28629,nssv11669,nssv28669 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517,NA18853,NA18860,NA19144,NA19173,NA19221,NA19240 esv26141 3 46769428 46826524 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17051 S 451 0 13 "" NA18502,NA18505,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240,NA19257 nsv514149 3 46769728 46825228 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627583 S 1414 0 1 "" esv2488989 3 46769974 46826948 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291051 S 1 0 1 "" NA18507 essv8614 3 46770243 46947493 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC12,MYL3,PRSS42,PTH1R NA19239 nsv498998 3 46770508 46826323 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585859 S 9 0 1 "" esv32999 3 46771064 46825077 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95194,essv94025,essv97855,essv98990,essv96067,essv94855,essv92569,essv100623,essv100420 M 51 1 8 "" 21721,21802,21837,21938,22127,22231,22233,22298,22300 dgv24n14 3 46771793 46819251 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433213,nsv433332,nsv433321,nsv433214 M 9 0 4 "" NA18507,NA18517,NA19129,NA19240 esv2421845 3 46771793 46824593 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5088560,essv5052677,essv5086365,essv5094139,essv5044853,essv5042057,essv5156121,essv5156028,essv5091251,essv5160460,essv5159762,essv5123693,essv5146775,essv5102165,essv5156630,essv5071116,essv5143081,essv5085132,essv5129472,essv5149353,essv5060869,essv5082785,essv5095788,essv5108943,essv5049379,essv5159423,essv5007421,essv5114192,essv5159268,essv5102194,essv5152178,essv5032017,essv5054216,essv5146309,essv5003059,essv5023135,essv5020958,essv5040480,essv5128102,essv5062550,essv5058001,essv5027329,essv5136942,essv5151952,essv5124330,essv5127158,essv5005966,essv5008366,essv5068633,essv5009670,essv5093338,essv5125410,essv5152261,essv5146318,essv5025909,essv5052547,essv5013982,essv5056853,essv5154777,essv5138316,essv5039148,essv5048493,essv5054900,essv5147386,essv5004446,essv5043942,essv5028150,essv5104080,essv5110556,essv5011119,essv5082073,essv5121744,essv5080544,essv5098442,essv5011865,essv5034559,essv5004129,essv5120329,essv5116673,essv5036192,essv5109115,essv5065307,essv5121931,essv5073850,essv5074332,essv5005538,essv5105879,essv5044935,essv5126466,essv5120560,essv5087557,essv5024057,essv5054271,essv5036911,essv5009660,essv5082928,essv5025918,essv5040636,essv5013754,essv5147712,essv5115629,essv5048197,essv5015158,essv5137037,essv5030588,essv5074264,essv5136846,essv5094830,essv5008043,essv5111855,essv5083884,essv5093796,essv5082591,essv5007980,essv5157631,essv5029379,essv5061775,essv5002528,essv5004096,essv5115461,essv5040608,essv5010400,essv5118624,essv5160417,essv5155073,essv5078275,essv5093753,essv5087561,essv5048756,essv5047177,essv5126811,essv5007142,essv5076035,essv5021251,essv5061339,essv5103108,essv5139730,essv5102504,essv5111039,essv5156448,essv5134596,essv5103859,essv5144238,essv5082348,essv5085883,essv5024408,essv5157302,essv5123238,essv5113337,essv5149786,essv5156528,essv5057472,essv5007896,essv5108158,essv5147978,essv5089948,essv5097682,essv5081068,essv5108982,essv5010102,essv5080194,essv5128920,essv5134696,essv5077732,essv5109890,essv5078089,essv5076421,essv5098397,essv5084136,essv5069791,essv5056404,essv5134913,essv5068990,essv5143333,essv5122953,essv5085241,essv5021544,essv5092830,essv5158288,essv5085143,essv5044730,essv5039180,essv5019076,essv5128529,essv5158087,essv5150844,essv5154259,essv5012760,essv5156003,essv5094606,essv5083993,essv5150216,essv5159221,essv5018025,essv5150281,essv5025770,essv5023010,essv5120757,essv5156521,essv5092018,essv5071819,essv5114094,essv5027364,essv5083814,essv5063602,essv5055918,essv5137017,essv5030255,essv5129696,essv5064780,essv5039804,essv5067220,essv5059968,essv5153550,essv5012756,essv5050464,essv5147844,essv5115029,essv5148938,essv5069497,essv5142160,essv5086601,essv5154440,essv5009596,essv5109131,essv5041597,essv5131168,essv5137001,essv5055879,essv5070940,essv5053341,essv5073310,essv5098155,essv5156508,essv5105720,essv5149266,essv5145159,essv5025621,essv5127356,essv5145186,essv5002498,essv5141164,essv5030063,essv5040378,essv5088955,essv5105122,essv5008715,essv5053466,essv5160463,essv5039325,essv5063292,essv5052688,essv5107882,essv5086022,essv5041006,essv5058747,essv5062987,essv5148284,essv5142804,essv5138235,essv5160068,essv5140616,essv5088869,essv5150867,essv5059214,essv5110199,essv5107018,essv5074056,essv5122570,essv5029314,essv5102125,essv5141721,essv5129480,essv5117364,essv5081793,essv5087136,essv5112546,essv5106927,essv5028474,essv5069439,essv5058252,essv5091331,essv5012907,essv5138137,essv5042965,essv5117817,essv5056302,essv5103793,essv5072600,essv5094831,essv5073451,essv5115004,essv5103618,essv5108015,essv5060409,essv5066320,essv5118266,essv5006023,essv5011095,essv5151811,essv5047215,essv5111760,essv5099817,essv5087265,essv5034816,essv5149061,essv5068998,essv5073899,essv5015569,essv5066438,essv5087127,essv5049926,essv5013164,essv5122865,essv5062792,essv5059840,essv5088745,essv5073863,essv5055183,essv5086769,essv5024027,essv5123176,essv5041657,essv5046585,essv5132075,essv5044114,essv5001994 M 1184 0 327 "" NA10838,NA12003,NA12818,NA12830,NA17972,NA18486,NA18489,NA18497,NA18499,NA18500,NA18501,NA18503,NA18505,NA18506,NA18507,NA18509,NA18510,NA18511,NA18517,NA18519,NA18852,NA18853,NA18854,NA18855,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18934,NA19027,NA19031,NA19036,NA19038,NA19041,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19108,NA19109,NA19113,NA19115,NA19117,NA19118,NA19127,NA19128,NA19129,NA19130,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19144,NA19146,NA19147,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19171,NA19172,NA19173,NA19174,NA19175,NA19178,NA19179,NA19181,NA19182,NA19183,NA19189,NA19191,NA19192,NA19193,NA19194,NA19198,NA19199,NA19200,NA19201,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19213,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19310,NA19313,NA19315,NA19319,NA19324,NA19328,NA19346,NA19350,NA19352,NA19371,NA19372,NA19373,NA19374,NA19376,NA19379,NA19380,NA19381,NA19383,NA19385,NA19390,NA19391,NA19393,NA19397,NA19399,NA19403,NA19428,NA19429,NA19431,NA19434,NA19435,NA19437,NA19438,NA19439,NA19440,NA19444,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19466,NA19467,NA19473,NA19474,NA19625,NA19650,NA19663,NA19681,NA19700,NA19702,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19756,NA19788,NA19794,NA19835,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19918,NA19919,NA19985,NA20127,NA20276,NA20277,NA20281,NA20282,NA20284,NA20287,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20300,NA20332,NA20333,NA20335,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20359,NA20360,NA20363,NA20508,NA20519,NA20539,NA20544,NA20582,NA20752,NA20901,NA21295,NA21312,NA21313,NA21317,NA21336,NA21352,NA21353,NA21357,NA21360,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21384,NA21385,NA21388,NA21389,NA21390,NA21391,NA21400,NA21414,NA21420,NA21421,NA21434,NA21436,NA21454,NA21475,NA21477,NA21478,NA21479,NA21480,NA21485,NA21487,NA21488,NA21490,NA21491,NA21494,NA21509,NA21510,NA21512,NA21514,NA21520,NA21522,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21599,NA21601,NA21615,NA21617,NA21620,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21693,NA21717,NA21719,NA21723,NA21733,NA21738,NA21740,NA21768,NA21776,NA21784,NA21826 esv2641432 3 46772140 46824280 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363432 S 1 0 1 "" NA18507 nsv438397 3 46772844 46821696 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471253,nssv471255,nssv471251,nssv471256,nssv471250,nssv471258,nssv471254,nssv471252,nssv471249 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18503,NA18505,NA18859,NA18860,NA19152,NA19154 nsv442859 3 46776821 46824285 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv508915 3 46830843 46929967 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619322 S 4 1 0 MYL3,PRSS42,PTH1R NA10860 dgv5130n71 3 46854835 46942044 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876753,nsv876752 M 6533 0 2 CCDC12,MYL3,PTH1R IS33162,IS35484 esv2495394 3 46856077 46857044 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265790 S 1 1 0 "" NA18507 esv1717473 3 46856790 46856790 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628804 S 2 1 0 "" HuRef nsv876754 3 46859556 46942044 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548583 S 6533 1 0 CCDC12,MYL3,PTH1R MS17878 nsv876755 3 46870113 47036187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546526 S 6533 0 1 CCDC12,MYL3,NBEAL2,NRADDP,PTH1R,SETD2 MS17208 nsv460526 3 46910531 46976354 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537080 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC12,PTH1R HGDP01079 nsv3800 3 46936652 46982245 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7006 S 9 0 1 CCDC12 NA12156 nsv876756 3 46977935 47561518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548584 S 6533 1 0 C3orf75,CCDC12,FLJ39534,KIF9,KLHL18,NBEAL2,NRADDP,PTPN23,SCAP,SETD2 MS17878 esv25200 3 46990721 46991648 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13914 S 451 0 1 CCDC12 NA12749 nsv876757 3 46993218 47033061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509792 S 6533 0 1 CCDC12,NBEAL2,NRADDP,SETD2 SP54956 esv267561 3 47017284 47022198 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517892 S 157 1 0 Samples from several populations that are part of the HapMap project. NBEAL2 NA12872 nsv3801 3 47176534 47221442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7802 S 9 0 1 FLJ39534,SETD2 NA12156 nsv238095 3 47223234 47228431 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256673 M 24 FLJ39534 esv2417653 3 47332784 47333166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823949 S 1 0 1 KLHL18 NA18507 nsv3802 3 47371678 47416955 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7803 S 9 0 1 PTPN23 NA12156 nsv3803 3 47389136 47421001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7007 S 9 1 0 PTPN23 NA12156 nsv3804 3 47423895 47428173 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1675 S 9 1 0 PTPN23 NA19240 nsv3805 3 47440806 47474108 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5962 S 9 1 0 SCAP NA19129 esv1471808 3 47447765 47447765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648991 S 2 1 0 SCAP HuRef esv998559 3 47447765 47448416 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564246 S 3 1 0 SCAP HuRef nsv511233 3 47459801 47469161 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624489 S 1 0 1 SCAP 1 nsv3806 3 47463788 47493137 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2393 S 9 0 1 SCAP NA18555 nsv436375 3 47465406 47469030 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465998 S 2 0 1 Samples from several populations that are part of the HapMap project. SCAP NA18505 nsv513046 3 47465584 47468695 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626529 S 1 0 1 SCAP 1 esv4049 3 47465627 47468543 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26490 S 1 0 1 Single Asian sample YH SCAP YH nsv498999 3 47465671 47468447 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585860 S 9 0 1 SCAP esv7925 3 47465675 47468436 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30366 S 1 0 1 SCAP SJK esv23620 3 47465699 47468393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12246 S 451 0 23 SCAP NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12489,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18907,NA18909,NA19114,NA19147,NA19225,NA19257 dgv805n67 3 47466223 47468384 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822073,nsv822072 M 31 0 20 SCAP AK10,AK14,AK16,AK18,AK2,AK6,AK8,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18972,NA18997,NA18999 nsv514150 3 47466424 47466980 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627584 S 1414 0 1 SCAP esv2750544 3 47536356 47537626 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100898 S 51 1 0 "" 21656 esv33034 3 47540433 47553609 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96906 S 51 1 0 "" 21817 nsv3807 3 47574889 47624308 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1676,nssv5963 M 9 2 0 CSPG5,SMARCC1 NA19129,NA19240 nsv876758 3 47656885 47817238 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526855 S 6533 1 0 SMARCC1 SP57886 nsv876759 3 47700319 47805745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562557 S 6533 1 0 SMARCC1 MS25633 nsv237419 3 47700470 47702076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255997 M 24 SMARCC1 nsv834679 3 47724479 47899010 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442775 S 95 0 1 DHX30,MAP4,MIR1226,SMARCC1 esv269273 3 47757841 47758177 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546350,essv2521375,essv2525973,essv2577366,essv2550507,essv2554027,essv2565491,essv2576378,essv2519944,essv2554999,essv2530682,essv2561923,essv2537521,essv2528553,essv2546985,essv2573305,essv2571444,essv2546101,essv2574495,essv2547720 M 157 20 0 Samples from several populations that are part of the HapMap project. SMARCC1 NA07347,NA11881,NA11894,NA11918,NA12043,NA12234,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18969,NA19238,NA19239,NA19240 esv274306 3 47757844 47758174 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582245,essv2582721,essv2583096,essv2584269,essv2584419,essv2583381 M 7 6 0 Samples from several populations that are part of the HapMap project. SMARCC1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv508916 3 47770450 47900325 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618014,nssv621198,nssv619323,nssv623371 M 4 4 0 DHX30,MAP4,MIR1226,SMARCC1 CHM,NA10860,NA15510,NA18994 nsv3808 3 47779107 47821694 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2394,nssv3161,nssv7008,nssv5964,nssv9380,nssv1677 M 9 6 0 DHX30,SMARCC1 NA12156,NA12878,NA18517,NA18555,NA19129,NA19240 nsv231 3 47792065 47820591 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv231 S 1 1 0 DHX30,SMARCC1 NA15510 nsv10270 3 47797610 47820582 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12074,nssv29166,nssv11538,nssv28390,nssv11991,nssv28799,nssv28853,nssv12660 M 31 8 0 Samples from several populations that are part of the HapMap project. DHX30,SMARCC1 NA07029,NA12740,NA12872,NA18517,NA18564,NA18860,NA19007,NA19221 esv1008948 3 47799284 47800886 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565344 S 3 1 0 "" HuRef esv24589 3 47959770 47961378 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12150 S 451 0 1 MAP4 NA06985 nsv876760 3 47994262 48172618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522463 S 6533 1 0 MAP4 SP53131 nsv834681 3 48007004 48156779 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442777,nssv1442776 M 95 0 2 MAP4 nsv834682 3 48113141 48286126 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442780,nssv1442779,nssv1442778 M 95 3 0 CAMP,CDC25A,MIR4443,ZNF589 esv1597375 3 48172165 48172299 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921496 S 2 0 1 "" HuRef nsv237248 3 48172186 48172319 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255826 M 24 "" esv2266215 3 48226701 48230143 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4614350 S 1 0 1 "" NA18507 esv2608601 3 48226787 48231242 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164391 S 1 0 1 "" NA18507 esv259776 3 48251050 48251536 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399101,essv2394476,essv2396796 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12045,NA12249 nsv834683 3 48276508 48468265 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442781,nssv1442782 M 95 2 0 ATRIP,CCDC51,CCDC72,FBXW12,NME6,PLXNB1,SPINK8,ZNF589 esv269798 3 48347292 48347377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515429,essv2515182,essv2515754,essv2517926,essv2515954,essv2514321,essv2513600 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12249,NA12812,NA12815,NA12872,NA12873,NA12874 esv1505665 3 48347330 48347330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189959 S 2 1 0 "" HuRef nsv834684 3 48360703 48564327 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442783 S 95 1 0 ATRIP,CCDC51,CCDC72,FBXW12,PFKFB4,PLXNB1,SHISA5,TREX1 nsv508917 3 48416697 48511795 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619324,nssv621199 M 4 2 0 ATRIP,CCDC51,CCDC72,PLXNB1,SHISA5,TREX1 NA10860,NA15510 esv1387738 3 48416824 48416824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015678 S 2 1 0 "" HuRef nsv876761 3 48439972 48471762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509793 S 6533 0 1 ATRIP,CCDC51,CCDC72,PLXNB1 SP54956 nsv3809 3 48490772 48515166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3094,nssv3162 M 9 2 0 SHISA5 NA12878,NA18555 nsv523981 3 48495293 48696044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699837 S 2026 0 1 CELSR3,COL7A1,MIR4793,MIR711,NCKIPSD,PFKFB4,SHISA5,SLC26A6,TMEM89,UCN2,UQCRC1 esv996619 3 48496409 48500972 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565090 S 3 1 0 SHISA5 HuRef esv1400295 3 48502646 48502646 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841423 S 2 1 0 SHISA5 HuRef esv1539272 3 48502663 48502663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139678 S 2 1 0 SHISA5 HuRef esv992291 3 48508357 48508436 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564464 S 3 1 0 SHISA5 HuRef esv1621474 3 48508629 48508629 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738191 S 2 1 0 SHISA5 HuRef esv2635148 3 48511831 48512525 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254436 S 1 1 0 SHISA5 NA18507 nsv834685 3 48540013 48720778 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442784 S 95 0 1 CELSR3,COL7A1,IP6K2,MIR4793,MIR711,NCKIPSD,PFKFB4,SLC26A6,TMEM89,UCN2,UQCRC1 nsv876762 3 48566485 48706491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549637,nssv1543401 M 6533 0 2 CELSR3,COL7A1,IP6K2,MIR4793,MIR711,NCKIPSD,PFKFB4,SLC26A6,TMEM89,UCN2,UQCRC1 MS16153,MS18276 esv8924 3 48574039 48574125 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31365 S 1 1 0 "" SJK esv1008877 3 48574105 48574195 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576351 S 3 0 1 UCN2 HuRef esv1540436 3 48574134 48574225 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180944 S 2 0 1 UCN2 HuRef nsv236349 3 48574163 48574253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254927 M 24 UCN2 nsv3811 3 48574184 48618813 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7804 S 9 0 1 COL7A1,MIR711,UCN2,UQCRC1 NA12156 nsv818138 3 48585929 48706491 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417709 S 112 1 0 CELSR3,COL7A1,IP6K2,MIR4793,MIR711,NCKIPSD,SLC26A6,TMEM89,UQCRC1 NA18999 nsv822074 3 48621823 48622497 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429694 S 31 1 0 UQCRC1 AK14 nsv876763 3 48644652 48685314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509794 S 6533 0 1 CELSR3,MIR4793,SLC26A6 SP54956 nsv822075 3 48673496 48674589 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429695 S 31 1 0 CELSR3 AK14 nsv508918 3 48708649 48796944 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619325 S 4 1 0 IP6K2,PRKAR2A NA10860 esv274328 3 48749478 48749563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581093 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1169569 3 48767176 48767320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858644 S 2 0 1 PRKAR2A HuRef esv6072 3 48888343 48888415 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28513 S 1 1 0 SLC25A20 SJK esv991363 3 48923415 48926403 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565246 S 3 0 1 "" HuRef esv2473053 3 48932283 48934509 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334047 S 1 0 1 ARIH2 NA18507 nsv876764 3 49015466 49220649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592129 S 6533 0 1 CCDC36,CCDC71,DALRD3,IMPDH2,KLHDC8B,LAMB2,LAMB2P1,LOC646498,MIR191,MIR425,NDUFAF3,P4HTM,QARS,QRICH1,USP19,WDR6 IS39233 nsv834686 3 49081051 49245560 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442786 S 95 0 1 CCDC36,CCDC71,KLHDC8B,LAMB2,LAMB2P1,LOC646498,QARS,QRICH1,USP19 nsv876765 3 49094067 49135675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509795 S 6533 0 1 LAMB2,QARS,QRICH1,USP19 SP54956 esv2063886 3 49172585 49173255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663411 S 1 0 1 "" NA18507 esv3712 3 49172698 49173258 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26153 S 1 0 1 Single Asian sample YH "" YH esv1003827 3 49172757 49173079 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584110 S 3 0 1 "" HuRef esv8967 3 49172770 49173077 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31408 S 1 0 1 "" SJK nsv236317 3 49270981 49272055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254895 M 24 "" nsv507094 3 49314495 49320495 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622853 S 4 1 0 USP4 NA18994 nsv512800 3 49317556 49317791 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625434 S 1 1 0 USP4 1 nsv236940 3 49374475 49379779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255518 M 24 RHOA nsv237162 3 49419921 49421474 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255740 M 24 RHOA nsv834687 3 49423636 49606792 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442787 S 95 0 1 AMT,BSN,BSN-AS2,DAG1,NICN1,RHOA,TCTA esv2222363 3 49469093 49469813 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606872 S 1 0 1 "" NA18507 esv2993 3 49469203 49469723 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25434 S 1 0 1 Single Asian sample YH "" YH nsv236822 3 49469281 49469609 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255400 M 24 "" esv995444 3 49469284 49469612 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582185 S 3 0 1 "" HuRef esv1266424 3 49469291 49469620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608814 S 2 0 1 "" HuRef esv7119 3 49469296 49469611 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29560 S 1 0 1 "" SJK nsv237516 3 49540740 49541287 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256094 M 24 DAG1 nsv508217 3 49590450 49744900 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622456 S 4 0 1 AMIGO3,APEH,BSN,GMPPB,IP6K1,MST1,RNF123 NA18994 nsv237379 3 49618692 49618692 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255957 M 24 BSN esv1436359 3 49618746 49618746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718069 S 2 1 0 BSN HuRef nsv3812 3 49644777 49655591 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7805 S 9 0 1 BSN NA12156 nsv820990 3 49695655 49710915 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420319 S 1 1 0 APEH,MST1,RNF123 NA10851 esv28815 3 49695755 49710855 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11181,esv11877,esv12377 M 451 17 1 APEH,MST1,RNF123 NA07045,NA11993,NA12156,NA12239,NA12414,NA12749,NA12828,NA12878,NA15510,NA18502,NA18523,NA18858,NA18907,NA18909,NA19108,NA19114,NA19225,NA19257 nsv471425 3 49696385 49701200 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548243,nssv548247,nssv548246 M 3 MST1 nsv482080 3 49696385 49701200 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558441 S 1 1 0 MST1 KB1 nsv822077 3 49696404 49709530 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440257 S 31 1 0 MST1,RNF123 NA18564 nsv482082 3 49729969 49732127 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558443 S 1 1 0 AMIGO3,RNF123 KB1 esv2544793 3 49758611 49759311 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169866 S 1 1 0 IP6K1 NA18507 esv1442016 3 49758883 49758883 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139231 S 2 1 0 IP6K1 HuRef nsv834688 3 49786119 49994303 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442788 S 95 0 1 C3orf54,CAMKV,CDHR4,IP6K1,MON1A,MST1R,RBM6,TRAIP,UBA7 dgv116n6 3 49786456 49792746 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237675,nsv237797 M 24 IP6K1 nsv876766 3 49792454 49936784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597272 S 6533 0 1 C3orf54,CAMKV,CDHR4,IP6K1,MON1A,MST1R,TRAIP,UBA7 IS40799 nsv876767 3 49893755 50128360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566666 S 6533 0 1 MON1A,MST1R,RBM5,RBM6 IS30837 nsv834689 3 49937934 50060123 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442789 S 95 0 1 MON1A,RBM6 nsv513047 3 49949664 49952269 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626530 S 1 0 1 "" 1 esv2517369 3 49950239 49952300 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267459 S 1 0 1 "" NA18507 esv2107111 3 49951042 49952103 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698904 S 1 0 1 "" NA18507 esv1004636 3 49951230 49952657 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565142 S 3 0 1 RBM6 HuRef nsv822078 3 49961453 49963030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431208 S 31 0 1 RBM6 AK18 nsv820223 3 49980743 49981158 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418941 S 2 0 1 RBM6 AK1 esv1163072 3 50038043 50038043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008100 S 2 1 0 RBM6 HuRef nsv834690 3 50076839 50275628 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442790 S 95 0 1 GNAI2,GNAT1,RBM5,RBM6,SEMA3F,SLC38A3 nsv515986 3 50079311 50266789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675316,nssv673905,nssv702204,nssv681722,nssv668681,nssv671238,nssv692007,nssv688454,nssv678278,nssv669120,nssv657967,nssv665591,nssv660839,nssv682405,nssv691334,nssv668457,nssv673852,nssv684806,nssv669281,nssv674002,nssv693535,nssv675178,nssv654501,nssv688961,nssv692155,nssv689099,nssv692838 M 2026 0 27 GNAI2,GNAT1,RBM5,RBM6,SEMA3F,SLC38A3 nsv822079 3 50091181 50101161 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426539 S 31 1 0 "" AK6 dgv806n67 3 50095793 50102121 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822080,nsv822081 M 31 2 0 RBM5 AK12,AK18 nsv822082 3 50098737 50099516 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424886,nssv1440957 M 31 2 0 "" NA18968,NA18969 nsv820820 3 50098737 50099740 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420320 S 1 0 1 "" NA10851 nsv822083 3 50098737 50101385 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431949 S 31 0 1 RBM5 AK20 esv23612 3 50098801 50099740 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10787 S 451 1 0 "" NA18508 nsv822084 3 50098971 50099516 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425299,nssv1428160 M 31 2 0 "" AK10,NA18947 nsv818139 3 50119955 50149576 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417195 S 112 0 1 RBM5 NA18558 nsv876768 3 50119955 50266789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548585 S 6533 1 0 GNAI2,GNAT1,RBM5,SEMA3F,SLC38A3 MS17878 nsv523662 3 50119955 50560003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699463 S 2026 0 1 C3orf45,CACNA2D2,CYB561D2,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,RBM5,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 nsv876769 3 50130472 50383402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509796 S 6533 0 1 C3orf45,CACNA2D2,CYB561D2,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,RBM5,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 SP54956 nsv470561 3 50133778 50560003 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547223,nssv547212,nssv547201 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3orf45,CACNA2D2,CYB561D2,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 HGDP00302,HGDP00313,HGDP00697 nsv876770 3 50133778 50584628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546527 S 6533 0 1 C3orf18,C3orf45,CACNA2D2,CYB561D2,GNAI2,GNAT1,HEMK1,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 MS17208 nsv523560 3 50147401 50327204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699341 S 2026 0 1 C3orf45,GNAI2,GNAT1,HYAL1,HYAL3,IFRD2,NAT6,SEMA3B,SEMA3F,SLC38A3 dgv602n27 3 50153015 50299676 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460529,nsv460530 M 1557 0 2 C3orf45,GNAI2,GNAT1,SEMA3B,SEMA3F,SLC38A3 NINDS_201,NINDS_49 dgv1456e1 3 50173482 50346381 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv212,essv14068,essv17775,essv2335 M 271 0 0 C3orf45,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,RASSF1,SEMA3B,SEMA3F,SLC38A3,TUSC2 NA10831,NA18861,NA18940 nsv834692 3 50173489 50368468 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442791,nssv1442792,nssv1442800,nssv1442797,nssv1442805,nssv1442802,nssv1442799,nssv1442808,nssv1442803,nssv1442809,nssv1442804,nssv1442810,nssv1442801,nssv1442806,nssv1442794,nssv1442795,nssv1442793,nssv1442798 M 95 0 18 C3orf45,CYB561D2,GNAI2,GNAT1,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,SEMA3F,SLC38A3,TMEM115,TUSC2,ZMYND10 nsv876771 3 50200572 50222828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510678 S 6533 0 1 GNAT1,SEMA3F,SLC38A3 SP54988 nsv460531 3 50222828 50411831 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537083 S 1557 0 1 C3orf45,CACNA2D2,CYB561D2,GNAI2,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,SLC38A3,TMEM115,TUSC2,ZMYND10 NINDS_54 dgv5131n71 3 50230309 50411831 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876774,nsv876772 M 6533 0 2 C3orf45,CACNA2D2,CYB561D2,GNAI2,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,SLC38A3,TMEM115,TUSC2,ZMYND10 IS39233,MS18276 dgv5132n71 3 50245169 50479900 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876773,nsv876775 M 6533 0 2 C3orf45,CACNA2D2,CYB561D2,GNAI2,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,TMEM115,TUSC2,ZMYND10 IS35007,MS10311 nsv834693 3 50263836 50482968 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442811,nssv1442813,nssv1442812 M 95 0 3 C3orf45,CACNA2D2,CYB561D2,GNAI2,HYAL1,HYAL2,HYAL3,IFRD2,NAT6,NPRL2,RASSF1,SEMA3B,TMEM115,TUSC2,ZMYND10 esv1008898 3 50266314 50277245 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565088 S 3 0 1 GNAI2 HuRef nsv3813 3 50308615 50343224 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1678 S 9 0 1 HYAL1,HYAL2,HYAL3,NAT6,RASSF1,TUSC2 NA19240 dgv5133n71 3 50316330 50343095 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876776,nsv876777 M 6533 0 2 HYAL1,HYAL2,RASSF1,TUSC2 SP51109,SP54988 esv29569 3 50318470 50324352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12015 S 451 0 1 HYAL1 NA19190 esv1266548 3 50323997 50324046 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638224 S 2 0 1 HYAL1 HuRef esv24464 3 50385198 50386850 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10123 S 451 1 0 CACNA2D2 NA12044 nsv876778 3 50388711 50440522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499340 S 6533 0 1 CACNA2D2 SP50159 esv989401 3 50399496 50401819 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564385 S 3 0 1 CACNA2D2 HuRef dgv807n67 3 50417954 50419866 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822088,nsv822085,nsv822086 M 31 0 5 CACNA2D2 NA18537,NA18947,NA18969,NA18972,NA18999 esv271044 3 50482182 50482267 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514452 S 157 1 0 Samples from several populations that are part of the HapMap project. CACNA2D2 NA12874 esv998611 3 50494297 50501736 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563641 S 3 0 1 CACNA2D2 HuRef nsv460532 3 50511277 50591053 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537084 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3orf18,CACNA2D2,HEMK1 HGDP01147 nsv3814 3 50534257 50566030 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv299 S 9 1 0 "" NA19240 nsv460533 3 50549217 50653155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537085 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3orf18,CISH,HEMK1,MAPKAPK3 HGDP00602 nsv508919 3 50609191 50688773 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619326 S 4 1 0 CISH,DOCK3,MAPKAPK3,MIR4787 NA10860 nsv482083 3 50618890 50624266 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558444 S 1 1 0 CISH KB1 esv259700 3 50627673 50627970 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397581,essv2399368,essv2396588,essv2396214,essv2397145 M 144 0 0 Samples from several populations that are part of the HapMap project. MAPKAPK3 NA12044,NA12287,NA18507,NA18944,NA18951 esv990051 3 50627763 50627763 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571163 S 3 1 0 MAPKAPK3 HuRef esv1531131 3 50627862 50627862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837720 S 2 1 0 MAPKAPK3 HuRef nsv3815 3 50637468 50681395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5965,nssv3095 M 9 2 0 MAPKAPK3 NA18555,NA19129 nsv237212 3 50741444 50742235 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255790 M 24 DOCK3 esv269530 3 50854146 50854477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565879,essv2575876,essv2540786,essv2546631,essv2521325,essv2526148,essv2542571,essv2536383,essv2522990,essv2544064,essv2571018,essv2556588,essv2568217,essv2545388,essv2523222,essv2577644,essv2548252,essv2521685,essv2576769,essv2525446,essv2535215,essv2544301,essv2551958,essv2520489,essv2547409,essv2529129,essv2558293,essv2577778,essv2553815,essv2559615,essv2565560,essv2520001,essv2564083,essv2555096,essv2530862,essv2537603,essv2528314,essv2546943,essv2540128,essv2521005,essv2556875,essv2552721,essv2551913,essv2532248,essv2569337,essv2578807,essv2537164,essv2539069,essv2561340,essv2523490,essv2553005,essv2542648,essv2540480,essv2565169,essv2534914,essv2561189,essv2549179,essv2519518,essv2560056,essv2522054,essv2531185,essv2532744,essv2528739,essv2541668,essv2570274,essv2563618,essv2535679,essv2559207,essv2566843,essv2541965,essv2550922,essv2569153,essv2556352,essv2527869,essv2533959,essv2578266,essv2573043,essv2555200,essv2533744,essv2530176,essv2573943,essv2527594,essv2555905,essv2534460,essv2522589,essv2531394,essv2573570,essv2543167,essv2577136,essv2571946,essv2527000,essv2529735,essv2575626,essv2575306,essv2538833,essv2526585,essv2560590,essv2560859,essv2572697,essv2568730,essv2545202,essv2549766,essv2571538,essv2574414,essv2551356,essv2536153,essv2537741,essv2549025,essv2533231,essv2547901,essv2525040,essv2563173,essv2557973 M 157 113 0 Samples from several populations that are part of the HapMap project. DOCK3 NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12045,NA12144,NA12154,NA12156,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18519,NA18523,NA18537,NA18542,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18579,NA18592,NA18593,NA18603,NA18608,NA18638,NA18853,NA18856,NA18858,NA18861,NA18871,NA18907,NA18916,NA18940,NA18942,NA18943,NA18944,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19143,NA19147,NA19172,NA19225,NA19238,NA19240,NA19257 esv272249 3 50854146 50854477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582104,essv2582483,essv2582944,essv2584187,essv2583483 M 7 5 0 Samples from several populations that are part of the HapMap project. DOCK3 NA12878,NA12891,NA12892,NA19238,NA19240 nsv7353 3 50858688 50950271 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9618,nssv5966,nssv10343,nssv2395,nssv9381,nssv300,nssv10342,nssv3164,nssv11059,nssv11058,nssv5967,nssv3163 M 9 0 0 DOCK3 NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv10271 3 50865193 50888532 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12713,nssv29024,nssv28140,nssv29181,nssv29130,nssv28852,nssv28883,nssv28849,nssv11568 M 31 9 0 Samples from several populations that are part of the HapMap project. DOCK3 NA07048,NA12802,NA18563,NA18564,NA18942,NA18972,NA18975,NA18980,NA19007 nsv233 3 50870215 50901282 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv233 S 1 0 0 DOCK3 NA15510 dgv32n50 3 50899327 50910776 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513649,nsv513650 M 1 0 0 DOCK3 1 nsv435958 3 50899490 50908387 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465999 S 2 0 0 DOCK3 NA15510 esv1007941 3 50899580 50910556 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564951 S 3 0 0 DOCK3 HuRef dgv38n47 3 50899679 50910048 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499733,nsv499089 M 9 0 0 DOCK3 esv1533992 3 50900409 50910036 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727871 S 2 0 0 DOCK3 HuRef nsv436704 3 50901050 50912558 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466000 S 2 0 0 Samples from several populations that are part of the HapMap project. DOCK3 NA18505 nsv234 3 50906550 50940929 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv234 S 1 0 0 DOCK3 NA15510 nsv10274 3 50907480 50907887 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28873 S 31 1 0 Samples from several populations that are part of the HapMap project. DOCK3 NA18552 esv24412 3 50920282 50930075 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20176 S 451 0 1 DOCK3 NA19225 esv1442923 3 51028323 51028323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050875 S 2 1 0 DOCK3 HuRef esv1655991 3 51028847 51028847 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355291 S 2 1 0 DOCK3 HuRef esv24311 3 51029475 51033016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16339 S 451 0 2 DOCK3 NA18907,NA19225 esv24946 3 51319913 51390865 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20206 S 451 1 0 DOCK3 NA12156 nsv822089 3 51384404 51385121 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440959 S 31 0 1 DOCK3 NA18969 nsv876779 3 51393538 51407432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509797 S 6533 0 1 DOCK3,MANF,RBM15B SP54956 nsv3816 3 51414830 51452516 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3096,nssv301 M 9 2 0 VPRBP NA18555,NA19240 esv2646677 3 51421576 51422894 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288994 S 1 0 1 VPRBP NA18507 esv1010319 3 51430671 51433327 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563920 S 3 1 0 VPRBP HuRef nsv508920 3 51442918 51475341 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619327,nssv621200 M 4 2 0 VPRBP NA10860,NA15510 esv992244 3 51444481 51444487 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564832 S 3 1 0 VPRBP HuRef esv2423095 3 51604894 51605335 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230813 S 1 1 0 RAD54L2 NA18507 nsv512801 3 51604951 51605326 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625435 S 1 1 0 RAD54L2 1 esv1042021 3 51605156 51605156 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342226 S 2 1 0 RAD54L2 HuRef nsv508921 3 51656255 51812129 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621201 S 4 1 0 GRM2,IQCF6,RAD54L2,TEX264 NA15510 nsv512802 3 51718647 51718785 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625436 S 1 1 0 GRM2 1 esv1008297 3 51718805 51720368 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565827 S 3 1 0 GRM2 HuRef esv271323 3 51735709 51736012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510303,essv2506225,essv2503075,essv2502388,essv2506734 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12414,NA18523,NA18943,NA18948,NA19108 esv269120 3 51738947 51739032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516025,essv2514212 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12873,NA12874 esv1236346 3 51738984 51738984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163204 S 2 1 0 "" HuRef nsv520211 3 51747387 52141187 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697283 S 2026 1 0 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,C3orf74,DUSP7,GPR62,IQCF1,IQCF2,IQCF3,IQCF4,IQCF5,IQCF6,PARP3,PCBP4,POC1A,RPL29,RRP9 esv2308762 3 51747777 51748140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755873 S 1 0 1 "" NA18507 nsv3817 3 51852979 51886097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3165 S 9 1 0 IQCF2,IQCF5 NA12878 nsv508922 3 51949988 52018576 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621202 S 4 1 0 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,GPR62,PARP3,PCBP4,RPL29,RRP9 NA15510 nsv876780 3 51956061 52076839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509798 S 6533 0 1 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,C3orf74,DUSP7,GPR62,PARP3,PCBP4,RPL29 SP54956 dgv5134n71 3 51960704 51988282 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876784,nsv876783,nsv876781 M 6533 0 4 ABHD14A,ABHD14A-ACY1,ABHD14B,GPR62,PCBP4 SP54043,SP54591,SP54593,SP55021 dgv5135n71 3 51960704 51997819 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876782,nsv876785 M 6533 0 2 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,GPR62,PCBP4 SP54725,SP54988 nsv519445 3 51979357 52342972 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681602,nssv687073,nssv657083,nssv656217,nssv694993,nssv698511 M 2026 1 5 ABHD14A,ABHD14A-ACY1,ABHD14B,ACY1,ALAS1,C3orf74,DNAH1,DUSP7,GLYCTK,MIR135A1,MIRLET7G,POC1A,PPM1M,RPL29,TLR9,TWF2,WDR82 nsv236961 3 52005677 52010432 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255539 M 24 "" nsv876786 3 52016606 52211802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597273 S 6533 0 1 ALAS1,C3orf74,DUSP7,POC1A IS40799 nsv508923 3 52045501 52108517 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621203 S 4 1 0 C3orf74,DUSP7,POC1A NA15510 esv25634 3 52064846 52066082 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13230 S 451 0 1 DUSP7 NA12489 nsv470572 3 52098353 52325252 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547234 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALAS1,GLYCTK,MIR135A1,MIRLET7G,POC1A,PPM1M,TLR9,TWF2,WDR82 HGDP00697 nsv460537 3 52123273 52265590 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537086 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALAS1,POC1A,PPM1M,TLR9,TWF2,WDR82 HGDP00684 nsv508218 3 52130909 52265450 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622457 S 4 0 1 ALAS1,POC1A,PPM1M,TLR9,TWF2,WDR82 NA18994 nsv508926 3 52130909 52265450 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621204 S 4 1 0 ALAS1,POC1A,PPM1M,TLR9,TWF2,WDR82 NA15510 nsv834694 3 52154023 52310861 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442816,nssv1442815,nssv1442814 M 95 3 0 ALAS1,GLYCTK,MIR135A1,MIRLET7G,POC1A,PPM1M,TLR9,TWF2,WDR82 nsv834695 3 52174741 52375617 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442817 S 95 0 1 ALAS1,DNAH1,GLYCTK,MIR135A1,MIRLET7G,PPM1M,TLR9,TWF2,WDR82 dgv5136n71 3 52211802 52342972 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876787,nsv876788 M 6533 2 0 ALAS1,DNAH1,GLYCTK,MIR135A1,MIRLET7G,PPM1M,TLR9,TWF2,WDR82 IS38430,MS17878 nsv876789 3 52222150 52550871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530477 S 6533 0 1 ALAS1,BAP1,C3orf78,DNAH1,GLYCTK,MIR135A1,MIRLET7G,NISCH,NT5DC2,PHF7,PPM1M,SEMA3G,STAB1,TLR9,TNNC1,TWF2,WDR82 MS10311 nsv482084 3 52230138 52235219 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558445 S 1 1 0 TLR9 KB1 nsv876790 3 52236422 52261865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510681,nssv1509799 M 6533 0 2 PPM1M,TWF2 SP54956,SP54988 nsv876791 3 52244531 52261865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505936 S 6533 0 1 PPM1M,TWF2 SP54043 nsv822090 3 52267854 52286193 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438721 S 31 1 0 MIRLET7G,WDR82 NA18973 nsv834696 3 52292518 52454577 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442824,nssv1442823,nssv1442819,nssv1442820,nssv1442822,nssv1442821 M 95 0 6 BAP1,DNAH1,GLYCTK,MIR135A1,PHF7,SEMA3G nsv3818 3 52350942 52380619 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10344 S 9 1 0 DNAH1 NA18956 nsv834697 3 52375618 52554457 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442825 S 95 0 1 BAP1,C3orf78,DNAH1,NISCH,NT5DC2,PBRM1,PHF7,SEMA3G,STAB1,TNNC1 dgv5137n71 3 52405566 52559827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876793,nsv876792 M 6533 0 2 BAP1,C3orf78,DNAH1,NISCH,NT5DC2,PBRM1,PHF7,SEMA3G,STAB1,TNNC1 MS13095,MS16153 nsv236985 3 52453793 52453864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255563 M 24 SEMA3G nsv876794 3 52460916 52471269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509800 S 6533 0 1 NISCH,TNNC1 SP54956 nsv3819 3 52472229 52504252 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7009 S 9 1 0 NISCH NA12156 nsv3820 3 52505587 52539504 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3097 S 9 1 0 NT5DC2,STAB1 NA18555 dgv5138n71 3 52519510 52547096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876795,nsv876796 M 6533 0 5 C3orf78,NT5DC2,STAB1 SP54043,SP54725,SP54956,SP54988,SP55021 esv27812 3 52542590 52543140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11293 S 451 0 1 NT5DC2 NA19190 nsv822091 3 52557113 52562361 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421547 S 31 0 1 PBRM1 NA18592 esv8459 3 52564847 52564925 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30900 S 1 1 0 PBRM1 SJK nsv822092 3 52573266 52576891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432732 S 31 0 1 PBRM1 NA18972 nsv508927 3 52598525 52639459 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621205 S 4 1 0 PBRM1 NA15510 esv2442255 3 52684498 52686118 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289343 S 1 0 1 PBRM1 NA18507 dgv21e194 3 52684697 52685414 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2311531,esv2083381 M 1 0 1 PBRM1 NA18507 esv3156 3 52684786 52685312 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25597 S 1 0 1 Single Asian sample YH PBRM1 YH esv9375 3 52684883 52685206 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31816 S 1 0 1 PBRM1 SJK esv1488186 3 52684889 52685224 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744321 S 2 0 1 PBRM1 HuRef esv991877 3 52705987 52705987 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571747 S 3 1 0 GLT8D1 HuRef nsv508219 3 52716233 52778939 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622458 S 4 0 1 NEK4,SPCS1 NA18994 nsv834698 3 52725023 52903259 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442832,nssv1442835,nssv1442827,nssv1442834,nssv1442833,nssv1442837,nssv1442836,nssv1442826,nssv1442830,nssv1442828,nssv1442831 M 95 11 0 ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,TMEM110,TMEM110-MUSTN1 nsv508928 3 52778939 52897631 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619328 S 4 1 0 ITIH1,ITIH3,ITIH4,MUSTN1,NEK4,TMEM110,TMEM110-MUSTN1 NA10860 nsv876797 3 52792715 52849024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543403 S 6533 0 1 ITIH1,ITIH3,ITIH4,MUSTN1,TMEM110,TMEM110-MUSTN1 MS16153 nsv3822 3 52808871 52841171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7010 S 9 1 0 ITIH3,ITIH4 NA12156 nsv876798 3 52831649 52838173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499457 S 6533 0 1 ITIH4 SP50159 esv1006048 3 52841692 52841692 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577809 S 3 1 0 "" HuRef esv1184141 3 52841717 52841717 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3828534 S 2 1 0 "" HuRef nsv237171 3 52841823 52841823 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255749 M 24 "" esv1003441 3 52907467 52907586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584694 S 3 0 1 "" HuRef esv1056402 3 52974907 52975218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087549 S 2 0 1 SFMBT1 HuRef nsv3823 3 52978699 53026103 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10345 S 9 0 1 SFMBT1 NA18956 dgv1457e1 3 52981095 53014495 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1255,essv19149 M 271 0 0 SFMBT1 NA12812 nsv876799 3 52999256 53035677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505400 S 6533 0 1 SFMBT1 SP53458 esv29989 3 53001754 53013826 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84228 S 2 0 1 SFMBT1 HuRef nsv517046 3 53001754 53021256 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658304,nssv684602,nssv665804,nssv676994,nssv668479,nssv687564,nssv693316,nssv668252,nssv690513,nssv663047,nssv663444,nssv682206,nssv692360,nssv670918,nssv693438,nssv660019,nssv682027,nssv669691,nssv665713,nssv670759,nssv693859,nssv680456,nssv688370,nssv659482,nssv677409,nssv665082,nssv687767,nssv693264,nssv653982,nssv676506,nssv662796,nssv681004,nssv685072,nssv665320,nssv689291,nssv690499,nssv679065,nssv668181,nssv683564,nssv693340,nssv657890,nssv690592,nssv689885,nssv652402,nssv679503,nssv682576,nssv669836,nssv658530,nssv655815,nssv666596,nssv688594,nssv688962,nssv686981,nssv684212,nssv679845,nssv681897,nssv681447,nssv659877,nssv690633,nssv682179,nssv659921,nssv680801,nssv660402,nssv689149,nssv705756,nssv668927,nssv679545,nssv658801,nssv683471,nssv682466,nssv652369,nssv688400,nssv662688,nssv675991,nssv684536,nssv689044,nssv687219,nssv662889,nssv678814,nssv669220,nssv673853,nssv653060,nssv667506,nssv667800,nssv676812,nssv661388,nssv685585,nssv654525,nssv668639,nssv692613,nssv669905,nssv676782,nssv669360,nssv674372,nssv690571,nssv664291,nssv659360,nssv670367,nssv687012,nssv688866,nssv679175,nssv666764,nssv678401,nssv686425,nssv667109,nssv674955,nssv683676,nssv689100,nssv694037,nssv678678,nssv693382,nssv704518,nssv687976,nssv654480,nssv656592,nssv657596,nssv663030,nssv690983,nssv664510,nssv683241,nssv690535,nssv689116,nssv677987,nssv687110,nssv669098,nssv683692,nssv667626,nssv661050,nssv653906,nssv692756,nssv681167,nssv654080,nssv663951,nssv653684,nssv662280,nssv680559,nssv684197,nssv665734,nssv682382,nssv687672,nssv657348,nssv676797,nssv654645,nssv670695,nssv678536,nssv683956,nssv674389,nssv667603,nssv688244,nssv669054,nssv672449,nssv663969,nssv681942,nssv692066,nssv656126,nssv676717,nssv674496,nssv655829,nssv660493,nssv692582,nssv655040,nssv668617,nssv681650,nssv674611,nssv676664,nssv687823,nssv685797,nssv689802,nssv684911,nssv683226,nssv698759,nssv675128,nssv691609,nssv671752,nssv654904,nssv658952,nssv676614,nssv652966,nssv669853,nssv680860,nssv692408,nssv683307,nssv652074,nssv667774,nssv655121,nssv682784,nssv652981,nssv677219,nssv667181,nssv677172,nssv678761 M 2026 1 190 SFMBT1 nsv437713 3 53001754 53030562 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467594 S 60 0 1 Samples from several populations that are part of the HapMap project. SFMBT1 NA12801 esv999683 3 53001777 53014827 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565769 S 3 0 1 SFMBT1 HuRef esv26966 3 53002107 53014126 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18222 S 451 0 3 SFMBT1 NA06985,NA12239,NA12287 nsv822093 3 53002165 53014016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430475 S 31 0 1 SFMBT1 AK16 dgv107e180 3 53002165 53016559 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993207,esv996791,esv991487,esv1009936 M 3 0 1 SFMBT1 HuRef nsv499000 3 53002188 53013939 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585861 S 9 0 1 SFMBT1 nsv514151 3 53002508 53013956 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627585 S 1414 0 1 SFMBT1 nsv460538 3 53003023 53010084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537087 S 1557 0 1 SFMBT1 1780862312_A dgv603n27 3 53003023 53013826 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460545,nsv460546,nsv460547,nsv460549,nsv460540,nsv460543,nsv460544,nsv460552,nsv460541,nsv460542,nsv460548,nsv460551 M 1557 0 12 SFMBT1 1780862419_A,HGDP00213,HGDP00524,HGDP00530,HGDP00587,HGDP00662,HGDP00664,HGDP00667,HGDP00672,HGDP01166,HGDP01361,NINDS_115 nsv818140 3 53003023 53013826 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415623,nssv1417975,nssv1418354,nssv1418051,nssv1415884,nssv1416227,nssv1416043,nssv1416338,nssv1415885,nssv1417196,nssv1416042 M 112 0 11 SFMBT1 NA06985,NA06991,NA07357,NA10861,NA11882,NA11994,NA12239,NA12248,NA12801,NA12812,NA18558 esv2421449 3 53003023 53014529 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152189,essv5093352,essv5140554,essv5026155,essv5048873,essv5112023,essv5072509,essv5003339,essv5089962,essv5088780,essv5148316,essv5134865,essv5090069,essv5080106,essv5012539,essv5132224,essv5158991,essv5121780,essv5154886,essv5072973,essv5125659,essv5010024,essv5063174,essv5093883,essv5143495,essv5072341,essv5019366,essv5125488,essv5019045,essv5092444,essv5149789,essv5047065,essv5019568,essv5153343,essv5118542,essv5037631,essv5145646,essv5136297,essv5058582,essv5061859,essv5042819,essv5034008,essv5011090,essv5077747,essv5100142,essv5092849,essv5098918,essv5011551,essv5054522,essv5066435,essv5083119,essv5120853,essv5006927,essv5155156,essv5017488,essv5148564,essv5035238,essv5033775,essv5127054,essv5150975,essv5093500,essv5070993,essv5037445,essv5112988,essv5089801,essv5009176,essv5017382,essv5152667,essv5075626,essv5130590,essv5027110,essv5120847,essv5021961,essv5026095,essv5112576,essv5147877,essv5124367,essv5135699,essv5067215,essv5135435,essv5153659,essv5034825,essv5112159,essv5109997,essv5068572,essv5152497,essv5045922,essv5107815,essv5151105,essv5002614,essv5046728,essv5050142,essv5124936,essv5020645,essv5154298,essv5044112,essv5150258,essv5019260,essv5124824,essv5083344 M 1184 0 100 SFMBT1 NA06985,NA06991,NA07055,NA07346,NA07349,NA07357,NA10850,NA10861,NA10864,NA11832,NA11882,NA11893,NA11994,NA12144,NA12239,NA12248,NA12287,NA12335,NA12340,NA12376,NA12546,NA12778,NA12801,NA12812,NA12877,NA12890,NA17993,NA18101,NA18102,NA18117,NA18122,NA18138,NA18141,NA18160,NA18548,NA18557,NA18558,NA18597,NA18609,NA18621,NA18632,NA18633,NA18638,NA18640,NA18702,NA18747,NA18757,NA18940,NA18956,NA18979,NA19083,NA19649,NA19660,NA19662,NA19675,NA19677,NA19679,NA19682,NA19683,NA19685,NA19686,NA19716,NA19719,NA19721,NA19725,NA19749,NA19750,NA19751,NA19761,NA19763,NA19789,NA19790,NA19794,NA19795,NA19834,NA19908,NA19982,NA19983,NA20322,NA20502,NA20518,NA20528,NA20529,NA20530,NA20531,NA20538,NA20586,NA20769,NA20778,NA20795,NA20796,NA20801,NA20805,NA20806,NA20819,NA20856,NA20897,NA20903,NA20908,NA21105 nsv442860 3 53003416 53016559 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SFMBT1 nsv438398 3 53008836 53012735 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471260,nssv471259 M 269 0 2 Samples from several populations that are part of the HapMap project. SFMBT1 NA12801,NA12812 nsv876800 3 53013826 53088802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534618 S 6533 0 1 SFMBT1 MS11694 esv2489889 3 53020827 53023371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356908 S 1 0 1 SFMBT1 NA18507 esv22089 3 53021777 53022570 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13007 S 451 0 2 SFMBT1 NA18916,NA19147 nsv822094 3 53034714 53071500 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438722 S 31 1 0 SFMBT1 NA18973 esv2140307 3 53044098 53044527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665749 S 1 0 1 SFMBT1 NA18507 esv26488 3 53053851 53055447 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20159 S 451 0 2 SFMBT1 NA12489,NA12749 nsv822095 3 53122206 53122922 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434313 S 31 1 0 RFT1 NA18570 nsv460553 3 53122616 53174054 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537101 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCD,RFT1 HGDP00433 nsv834699 3 53126916 53300848 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442838 S 95 0 1 DCP1A,PRKCD,RFT1,TKT nsv517233 3 53150597 53296042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656747,nssv652669,nssv660457,nssv669562,nssv654081,nssv677479,nssv682709,nssv658352,nssv692851,nssv705763 M 2026 0 10 DCP1A,PRKCD,TKT nsv460554 3 53154794 53203959 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537102 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCD HGDP00491 nsv470583 3 53154794 53210034 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547246 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKCD HGDP00546 esv1009267 3 53244997 53244997 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573179 S 3 1 0 TKT HuRef esv1068681 3 53244998 53244998 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224574 S 2 1 0 TKT HuRef nsv3824 3 53264492 53281469 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7806 S 9 0 1 TKT NA12156 nsv3825 3 53295981 53302992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5968 S 9 1 0 DCP1A NA19129 dgv5139n71 3 53300945 53445903 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876802,nsv876801 M 6533 2 0 DCP1A,MIR1303 MS10184,MS22231 esv271258 3 53475017 53475365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514592,essv2518744,essv2514948,essv2515637,essv2514380,essv2517363 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12045,NA12812,NA12815,NA12874,NA18970 nsv3826 3 53629002 53660131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11060 S 9 1 0 CACNA1D NA15510 nsv521276 3 53733363 53734761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694429 S 2026 0 1 CACNA1D nsv520027 3 53737753 53759665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697185 S 2026 0 1 CACNA1D nsv876803 3 53797933 53864889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546528 S 6533 0 1 CACNA1D,CHDH,IL17RB MS17208 dgv283n21 3 53807943 53857703 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518466,nsv521181 M 2026 0 2 CACNA1D,CHDH,IL17RB nsv876804 3 53808549 53909211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598602 S 6533 1 0 ACTR8,CACNA1D,CHDH,IL17RB,SELK IS40883 nsv876805 3 53840771 53858762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509802 S 6533 0 1 CHDH,IL17RB SP54956 nsv509824 3 53920357 53926357 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623903 S 4 0 1 "" NA18994 nsv523473 3 53985079 54008905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699233 S 2026 0 1 "" esv1120055 3 54000339 54000339 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294735 S 2 1 0 "" HuRef esv268441 3 54024933 54025102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510323,essv2503341 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12414,NA18542 esv274077 3 54032858 54033127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580931 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv3827 3 54177801 54212726 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv302 S 9 1 0 CACNA2D3 NA19240 nsv518483 3 54187222 54234841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695922 S 2026 0 1 CACNA2D3 esv2606802 3 54215527 54217055 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191100 S 1 0 1 CACNA2D3 NA18507 esv2322950 3 54216033 54216774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780774 S 1 0 1 CACNA2D3 NA18507 nsv876806 3 54231688 54305050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519504 S 6533 0 1 CACNA2D3 SP81067 dgv604n27 3 54245686 54268385 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460556,nsv460555 M 1557 2 0 CACNA2D3 HGDP00703,HGDP00706 nsv470594 3 54245686 54271631 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547268,nssv547279,nssv547257 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA2D3 HGDP00702,HGDP00703,HGDP00706 esv2457570 3 54255148 54256477 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164994 S 1 0 1 CACNA2D3 NA18507 nsv527408 3 54346831 54347649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703845 S 2026 0 1 CACNA2D3 nsv517851 3 54384566 55714400 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695256 S 2026 1 0 C3orf51,CACNA2D3,ERC2,ESRG,LRTM1,WNT5A dgv5140n71 3 54428695 54476126 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876809,nsv876808,nsv876807 M 6533 0 3 CACNA2D3 SP56207,SP57355,SP81498 nsv876810 3 54455838 54560456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548587 S 6533 1 0 CACNA2D3 MS17878 esv1582956 3 54487746 54487746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3919407 S 2 1 0 CACNA2D3 HuRef esv259841 3 54527995 54528281 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399385,essv2395667,essv2400959,essv2394604,essv2400671,essv2395350,essv2400376,essv2398745,essv2398383,essv2395212,essv2399780,essv2396434,essv2397229 M 144 0 0 Samples from several populations that are part of the HapMap project. CACNA2D3 NA12287,NA18501,NA18547,NA18870,NA18912,NA18916,NA18960,NA19005,NA19093,NA19108,NA19129,NA19138,NA19225 nsv237564 3 54528088 54528088 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256142 M 24 CACNA2D3 nsv3828 3 54565735 54599541 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7808 S 9 1 0 CACNA2D3 NA12156 nsv834700 3 54612414 54778936 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442839 S 95 1 0 CACNA2D3,ESRG nsv818141 3 54614249 54616608 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418136 S 112 0 1 CACNA2D3 NA19144 nsv525644 3 54628356 54685027 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701798 S 2026 1 0 CACNA2D3,ESRG dgv284n21 3 54768490 54778561 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522779,nsv524822 M 2026 0 2 CACNA2D3 nsv517265 3 54777391 54778561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684425,nssv659993,nssv663154,nssv685379,nssv655910,nssv685763,nssv693786,nssv685946,nssv691777,nssv670563,nssv659383,nssv693642,nssv690684,nssv675473,nssv652254,nssv670077,nssv674662,nssv654160,nssv685251,nssv678125,nssv678815,nssv690079,nssv693212,nssv686502,nssv682849,nssv686904,nssv670321,nssv662605,nssv674003,nssv686110,nssv655455,nssv667627,nssv676615,nssv692128,nssv676159,nssv660133,nssv662411,nssv688125 M 2026 0 38 CACNA2D3 nsv876811 3 54805170 54878655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548588 S 6533 1 0 CACNA2D3 MS17878 nsv876812 3 54921618 55025805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548589 S 6533 1 0 CACNA2D3,LRTM1 MS17878 nsv3829 3 54956379 54988276 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10346 S 9 1 0 CACNA2D3 NA18956 esv2456893 3 54979236 54980102 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309494 S 1 1 0 CACNA2D3 NA18507 dgv285n21 3 55037455 55064114 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527622,nsv516234 M 2026 0 3 CACNA2D3 esv993548 3 55041916 55043960 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565110 S 3 1 0 CACNA2D3 HuRef esv1625556 3 55042841 55042841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347070 S 2 1 0 CACNA2D3 HuRef nsv525110 3 55090093 55420891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701171 S 2026 0 1 "" nsv528265 3 55112037 55128254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704833 S 2026 1 0 "" nsv876813 3 55121051 55196582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547381 S 6533 1 0 "" MS17359 nsv517671 3 55169490 55169996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688073,nssv652778 M 2026 0 2 "" esv34125 3 55199120 55238666 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv523999 3 55316183 55318983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699859 S 2026 0 1 "" esv1933968 3 55333301 55333764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510236 S 1 0 1 "" NA18507 esv992086 3 55333487 55333579 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567249 S 3 0 1 "" HuRef esv1123003 3 55333488 55333581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304654 S 2 0 1 "" HuRef nsv3830 3 55352234 55396566 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2396 S 9 0 1 "" NA18555 esv27893 3 55380737 55381676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19044 S 451 0 2 "" NA11931,NA12004 dgv1458e1 3 55465669 55640833 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv404,essv4444 M 271 0 0 ERC2,WNT5A NA18552 nsv520599 3 55611785 55613565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697512 S 2026 0 1 ERC2 nsv822096 3 55669018 55669494 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434314 S 31 0 1 ERC2 NA18570 esv260068 3 55669130 55669629 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399025,essv2398898,essv2400774,essv2398269 M 144 0 0 Samples from several populations that are part of the HapMap project. ERC2 NA10851,NA11995,NA12717,NA12763 nsv508929 3 55743508 55743508 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618015 S 4 1 0 ERC2 CHM nsv508930 3 55750119 55763687 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619329 S 4 1 0 ERC2 NA10860 nsv3831 3 55759602 55765934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3166 S 9 1 0 ERC2 NA12878 esv1005418 3 55763088 55764694 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565340 S 3 1 0 ERC2 HuRef esv274377 3 55763588 55769656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582239,essv2582465,essv2583158,essv2583910 M 7 4 0 Samples from several populations that are part of the HapMap project. ERC2 NA12878,NA12891,NA12892,NA19238 esv269009 3 55763588 55769678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558135,essv2565700,essv2571649,essv2521416,essv2525896,essv2542576,essv2536565,essv2522676,essv2543939,essv2556811,essv2568320,essv2545573,essv2570603,essv2548283,essv2521484,essv2576717,essv2525358,essv2550482,essv2535401,essv2520637,essv2547292,essv2558275,essv2564665,essv2577675,essv2553690,essv2559676,essv2565234,essv2576193,essv2520106,essv2563983,essv2530785,essv2561772,essv2537217,essv2528259,essv2546910,essv2557411,essv2557068,essv2552434,essv2532161,essv2562617,essv2544652,essv2563075,essv2523796,essv2541233,essv2542767,essv2565129,essv2534823,essv2561111,essv2549293,essv2519516,essv2521967,essv2531151,essv2529057,essv2569946,essv2563885,essv2535573,essv2572602,essv2559323,essv2566749,essv2539234,essv2534161,essv2573215,essv2555300,essv2533779,essv2527426,essv2555942,essv2531650,essv2573659,essv2543204,essv2573300,essv2529741,essv2526618,essv2560571,essv2548090,essv2571281,essv2536332,essv2537914,essv2548846,essv2533220,essv2554620,essv2547913,essv2524845 M 157 82 0 Samples from several populations that are part of the HapMap project. ERC2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11840,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18505,NA18507,NA18526,NA18532,NA18537,NA18545,NA18550,NA18558,NA18561,NA18562,NA18564,NA18566,NA18571,NA18573,NA18579,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18912,NA18916,NA18942,NA18943,NA18944,NA18952,NA18956,NA18961,NA18964,NA18965,NA18969,NA19093,NA19114,NA19116,NA19210,NA19238 nsv876814 3 55777789 55835566 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548590 S 6533 1 0 ERC2 MS17878 nsv235 3 55855003 55870149 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv235 S 1 1 0 ERC2,MIR3938 NA15510 nsv3833 3 55855003 55870149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11061 S 9 1 0 ERC2,MIR3938 NA15510 esv271054 3 55860181 55860537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504027 S 157 1 0 Samples from several populations that are part of the HapMap project. ERC2 hapmap_pooled_sample_set nsv876815 3 55870449 55955004 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548591 S 6533 1 0 ERC2 MS17878 esv2645094 3 55946636 55948215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184740 S 1 0 1 ERC2 NA18507 esv1936904 3 55946951 55947596 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754138 S 1 0 1 ERC2 NA18507 esv1042880 3 56049659 56049659 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877848 S 2 1 0 ERC2 HuRef nsv509825 3 56114508 56120508 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618572,nssv622026 M 4 0 2 ERC2 CHM,NA10860 nsv509826 3 56128399 56134399 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621553 S 4 0 1 ERC2 NA15510 nsv3834 3 56128445 56139487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7809 S 9 1 0 ERC2 NA12156 nsv522496 3 56172568 56181631 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705864 S 2026 0 1 ERC2 nsv876816 3 56397811 56432745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590637 S 6533 1 0 ERC2 IS38542 nsv876817 3 56492293 56624322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548592 S 6533 1 0 CCDC66 MS17878 esv27028 3 56522354 56525203 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12161 S 451 1 0 "" NA12156 nsv460557 3 56569775 56636360 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537105 S 1557 0 1 C3orf63,CCDC66 1780854231_A esv2555353 3 56578765 56580289 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215982 S 1 0 1 CCDC66 NA18507 esv1966969 3 56579589 56580156 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812232 S 1 0 1 CCDC66 NA18507 esv3123 3 56579679 56580269 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25564 S 1 0 1 Single Asian sample YH CCDC66 YH esv2621307 3 56579740 56579995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223018 S 1 0 1 CCDC66 NA18507 esv1141708 3 56579740 56579996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350113 S 2 0 1 CCDC66 HuRef dgv808n67 3 56582152 56595882 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822099,nsv822097 M 31 0 6 CCDC66 AK10,AK12,AK20,AK4,NA18542,NA18999 nsv435762 3 56582558 56597106 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466001 S 2 0 1 CCDC66 NA15510 esv21892 3 56582763 56596571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19690 S 451 0 1 CCDC66 NA15510 nsv528087 3 56583073 56603071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704623 S 2026 0 1 CCDC66 nsv820061 3 56623902 56625214 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419234 S 2 0 1 CCDC66 AK1 nsv237149 3 56707962 56713521 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255727 M 24 "" nsv507095 3 56737868 56743868 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621701 S 4 1 0 ARHGEF3 NA10860 nsv512803 3 56740283 56740716 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625437 S 1 1 0 ARHGEF3 1 esv1591931 3 56740678 56740678 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049045 S 2 1 0 ARHGEF3 HuRef nsv876818 3 56780416 56899751 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548593 S 6533 1 0 ARHGEF3 MS17878 nsv523538 3 56824745 56832827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699314 S 2026 0 1 ARHGEF3 nsv515842 3 56866486 56871425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692875,nssv687872,nssv666559,nssv664988,nssv656405,nssv665228,nssv692264,nssv662689,nssv661417 M 2026 0 9 ARHGEF3 esv272491 3 56923596 56923832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580901,essv2579058,essv2579709 M 7 3 0 Samples from several populations that are part of the HapMap project. ARHGEF3 NA19238,NA19239,NA19240 nsv509827 3 56974328 56980328 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618573 S 4 0 1 ARHGEF3 CHM esv1700976 3 57049566 57049566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650603 S 2 1 0 ARHGEF3 HuRef nsv876819 3 57066615 57167334 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548594 S 6533 1 0 ARHGEF3,IL17RD,SPATA12 MS17878 nsv819583 3 57102388 57103060 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419050 S 2 1 0 IL17RD AK1 nsv3835 3 57138629 57183416 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7810 S 9 0 1 IL17RD NA12156 nsv3836 3 57299476 57314028 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2397 S 9 1 0 ASB14,DNAH12 NA18555 nsv508931 3 57361254 57375406 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619330,nssv623372,nssv621206,nssv618016 M 4 4 0 DNAH12 CHM,NA10860,NA15510,NA18994 esv1245160 3 57362070 57362262 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360705 S 2 0 0 DNAH12 HuRef dgv5141n71 3 57371825 57469178 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876822,nsv876821,nsv876820 M 6533 0 3 DNAH12 IS30562,IS31581,MS19634 nsv822100 3 57380975 57381976 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428164,nssv1429697,nssv1431951,nssv1425637 M 31 4 0 DNAH12 AK10,AK14,AK20,AK4 nsv460558 3 57387667 57432480 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537106 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNAH12 HGDP00828 esv2470376 3 57392876 57394373 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169310 S 1 0 1 DNAH12 NA18507 dgv5142n71 3 57407025 57495185 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876829,nsv876823 M 6533 0 2 DNAH12 IS30490,MS23670 dgv286n21 3 57418857 57474809 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525476,nsv519351 M 2026 0 2 DNAH12 dgv5143n71 3 57425175 57483578 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876827,nsv876825,nsv876826,nsv876824 M 6533 0 37 DNAH12 IS30539,IS30553,IS30597,IS30683,IS30969,IS31041,IS31044,IS31074,IS31081,IS31189,IS31205,IS31306,IS31563,IS31703,IS31765,IS31804,IS31837,IS32015,IS32079,IS32607,IS34645,IS34962,IS35236,IS35263,IS35742,IS35743,IS36244,IS36981,IS37059,IS37999,IS38065,IS38123,IS39119,IS39923,MS17114,MS18847,MS22104 nsv876828 3 57426028 57485838 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574707,nssv1545813,nssv1574056 M 6533 1 2 DNAH12 IS33507,IS33616,MS16959 nsv515675 3 57448790 57450804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657102,nssv667449,nssv669385,nssv669307,nssv664337,nssv689919 M 2026 0 6 DNAH12 esv2517054 3 57455387 57457341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201834 S 1 0 1 DNAH12 NA18507 esv1990047 3 57455892 57456940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532574 S 1 0 1 DNAH12 NA18507 nsv834701 3 57601664 57793670 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442841 S 95 0 1 FAM116A,SLMAP nsv822101 3 57851999 57853570 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433551,nssv1434315 M 31 0 2 SLMAP NA18526,NA18570 esv9643 3 57852581 57853860 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32084 S 1 0 1 SLMAP SJK nsv822102 3 57852616 57853570 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421594,nssv1421670 M 31 0 2 SLMAP NA18592,NA18997 nsv876830 3 57860103 57981640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594242 S 6533 1 0 FLNB,SLMAP IS39722 nsv528147 3 57890514 58345217 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704694 S 2026 1 0 ABHD6,DNASE1L3,FLNB,PXK,RPP14 nsv822103 3 57930174 57952528 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422500 S 31 0 1 "" NA18552 nsv818142 3 57932080 57954807 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417473 S 112 0 1 "" NA18960 nsv441823 3 57933869 57952991 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv3837 3 57977914 58005928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7011 S 9 1 0 FLNB NA12156 esv992067 3 57987321 57989354 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565015 S 3 1 0 FLNB HuRef nsv834703 3 58033558 58259537 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442842 S 95 1 0 ABHD6,DNASE1L3,FLNB esv8627 3 58076642 58077486 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31068 S 1 0 0 FLNB SJK esv991656 3 58093595 58094330 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586295 S 3 1 0 FLNB HuRef esv2337145 3 58296121 58296591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541793 S 1 0 1 PXK NA18507 nsv3838 3 58312870 58347484 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv303 S 9 1 0 PXK NA19240 nsv876831 3 58432776 58582435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548595 S 6533 1 0 ACOX2,FAM107A,KCTD6 MS17878 esv24287 3 58452167 58453461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14854,esv19604 M 451 0 2 KCTD6 NA12156,NA12489 nsv3839 3 58480662 58525739 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5969,nssv7811 M 9 0 2 ACOX2,FAM107A NA12156,NA19129 nsv520486 3 58481890 58491423 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671812,nssv677306 M 2026 2 0 ACOX2 nsv876832 3 58491423 58548574 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574879 S 6533 0 1 ACOX2,FAM107A IS33665 esv2536419 3 58509006 58513555 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295504 S 1 0 1 "" NA18507 nsv528342 3 58509166 58518552 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704924 S 2026 1 0 "" nsv470605 3 58509166 58541032 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547290 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM107A HGDP00290 esv2486541 3 58509456 58513291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328879 S 1 0 1 "" NA18507 esv2226514 3 58509627 58512572 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899121 S 1 0 1 "" NA18507 nsv499001 3 58509818 58512374 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585862 S 9 0 1 "" nsv524472 3 58528200 58533809 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700410 S 2026 1 0 FAM107A nsv460560 3 58589056 58617492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537107 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM3D HGDP00774 nsv876833 3 58617492 58648272 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583607 S 6533 1 0 FAM3D IS36536 esv28465 3 58623084 58624859 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12813 S 451 1 0 FAM3D NA18523 nsv3840 3 58628928 58674189 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7812 S 9 0 1 "" NA12156 nsv834704 3 58662518 58812691 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442843 S 95 0 1 C3orf67 esv275454 3 58682201 58686733 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585983 S 1250 0 1 "" esv274884 3 58749159 58757644 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586186,essv2585872 M 1250 1 1 C3orf67 esv273797 3 58758841 58759496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580707 S 7 1 0 Samples from several populations that are part of the HapMap project. C3orf67 NA19238 nsv822104 3 58773303 58775200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439586,nssv1430476 M 31 0 2 C3orf67 AK16,NA18537 esv21695 3 58773529 58783389 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17453,esv11371 M 451 0 2 C3orf67 NA18508,NA18916 esv2422022 3 58773839 58774924 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083803,essv5034286,essv5025971,essv5044435,essv5061442,essv5031096,essv5146386,essv5055295,essv5082079,essv5138064,essv5017517,essv5123020,essv5062914,essv5143038,essv5050341,essv5050337,essv5122468,essv5146681,essv5012276,essv5020185,essv5084065,essv5012831,essv5159085,essv5019794,essv5059037,essv5022173,essv5057651,essv5044176,essv5106046,essv5025807,essv5108745,essv5148330,essv5129707,essv5063315,essv5039457,essv5091287,essv5096276,essv5122960,essv5047952,essv5106352,essv5109340,essv5105402,essv5089866,essv5057663,essv5014269 M 1184 0 45 C3orf67 NA18484,NA18488,NA18508,NA18537,NA18852,NA18854,NA18916,NA18930,NA19143,NA19146,NA19148,NA19179,NA19181,NA19183,NA19236,NA19313,NA19319,NA19350,NA19394,NA19398,NA19439,NA19463,NA20277,NA20322,NA20340,NA20344,NA20345,NA20356,NA20908,NA21107,NA21119,NA21336,NA21368,NA21399,NA21401,NA21476,NA21478,NA21480,NA21491,NA21493,NA21494,NA21519,NA21521,NA21578,NA21582 nsv511230 3 58775036 58792642 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624455 S 1 0 1 C3orf67 1 dgv5144n71 3 58809930 58901248 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876835,nsv876834 M 6533 2 0 C3orf67 SP50695,SP54750 esv269662 3 58905404 58905522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494162,essv2501381,essv2510847,essv2497580,essv2510385 M 157 5 0 Samples from several populations that are part of the HapMap project. C3orf67 NA18502,NA19093,NA19116,NA19147,NA19172 esv2600396 3 59099760 59101239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368228 S 1 0 1 "" NA18507 esv2203418 3 59100073 59100789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4850646 S 1 0 1 "" NA18507 esv2524326 3 59100267 59100593 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386160 S 1 0 1 "" NA18507 nsv834705 3 59216540 59383634 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442844 S 95 1 0 "" nsv523534 3 59234083 59263255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699309 S 2026 0 1 "" nsv528810 3 59237230 59282765 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705484 S 2026 1 0 "" esv2149596 3 59467926 59468387 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813950 S 1 0 1 "" NA18507 nsv876836 3 59475434 59639727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548596 S 6533 1 0 "" MS17878 nsv3841 3 59476129 59509279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3167 S 9 1 0 "" NA12878 esv2617155 3 59489397 59490465 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242625 S 1 1 0 "" NA18507 nsv834706 3 59513191 59711054 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442845 S 95 1 0 FHIT esv23333 3 59674520 59675481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11034 S 451 0 4 "" NA18502,NA18517,NA18858,NA18909 nsv3842 3 59745917 59775497 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3168 S 9 1 0 FHIT NA12878 nsv460563 3 59747382 59802430 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537109 S 1557 1 0 FHIT NINDS_206 esv995728 3 59752744 59752809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576809 S 3 0 1 FHIT HuRef esv1998826 3 59767233 59767680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995580 S 1 0 1 FHIT NA18507 esv1004832 3 59767431 59767490 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583136 S 3 0 1 FHIT HuRef nsv876837 3 59775579 59817684 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589914 S 6533 1 0 FHIT IS38430 nsv460564 3 59796111 59902767 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537110 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FHIT HGDP01203 nsv460565 3 59817684 59853028 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537111 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FHIT HGDP00994 nsv470616 3 59817684 59853028 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547301 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FHIT HGDP00994 esv274562 3 59827911 59828902 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582081,essv2583094,essv2584107,essv2584789,essv2583799 M 7 5 0 Samples from several populations that are part of the HapMap project. FHIT NA12878,NA12892,NA19238,NA19239,NA19240 esv271327 3 59827911 59828928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557894,essv2565843,essv2540685,essv2546230,essv2521171,essv2526067,essv2542238,essv2522874,essv2544196,essv2556574,essv2531989,essv2577614,essv2570446,essv2548238,essv2521724,essv2576856,essv2550555,essv2525514,essv2535423,essv2553959,essv2552230,essv2529070,essv2558427,essv2564655,essv2553812,essv2559557,essv2565368,essv2564056,essv2530586,essv2537313,essv2546826,essv2530503,essv2540205,essv2520860,essv2557416,essv2557159,essv2552737,essv2551824,essv2532168,essv2562723,essv2569301,essv2578525,essv2550105,essv2558762,essv2537045,essv2539041,essv2569672,essv2527297,essv2561588,essv2544799,essv2523543,essv2552803,essv2541220,essv2524702,essv2534841,essv2561294,essv2539594,essv2549587,essv2519879,essv2522048,essv2566065,essv2530986,essv2532488,essv2567665,essv2529011,essv2567386,essv2569906,essv2563817,essv2553228,essv2535543,essv2572549,essv2559109,essv2566720,essv2541995,essv2550892,essv2569095,essv2543642,essv2556268,essv2527918,essv2562160,essv2534059,essv2578391,essv2573214,essv2555219,essv2533654,essv2555630,essv2567211,essv2566384,essv2529976,essv2527698,essv2557706,essv2555906,essv2534285,essv2531559,essv2573750,essv2577019,essv2571977,essv2526933,essv2529633,essv2575776,essv2575054,essv2538721,essv2526695,essv2560684,essv2524301,essv2560826,essv2574657,essv2568830,essv2545184,essv2560275,essv2549878,essv2571322,essv2545768,essv2574503,essv2551597,essv2536212,essv2538166,essv2554674,essv2547912,essv2563111 M 157 120 0 Samples from several populations that are part of the HapMap project. FHIT NA06986,NA07000,NA07346,NA07347,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11994,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12828,NA12873,NA12878,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv9455 3 59869549 59869618 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31896 S 1 1 0 FHIT SJK esv271811 3 59869579 59869719 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518809,essv2514950,essv2518054,essv2515920,essv2519476 M 157 5 0 Samples from several populations that are part of the HapMap project. FHIT NA07346,NA12045,NA12812,NA12872,NA12873 nsv507096 3 59878894 59884894 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620761 S 4 1 0 FHIT NA15510 nsv876838 3 59927192 59974730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548597 S 6533 1 0 FHIT MS17878 nsv528597 3 59936554 59938171 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705223 S 2026 0 1 FHIT esv1665801 3 59947540 59947540 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283370 S 2 1 0 FHIT HuRef esv1142763 3 59947569 59947569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608890 S 2 1 0 FHIT HuRef esv267690 3 59971471 59972346 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509145 S 157 1 0 Samples from several populations that are part of the HapMap project. FHIT NA18909 nsv834707 3 59980719 60159086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442846 S 95 1 0 FHIT nsv876839 3 59999124 60014528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582762 S 6533 0 1 FHIT IS36141 esv22405 3 60026020 60033140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20514,esv18292,esv13593,esv17741 M 451 0 8 FHIT NA12776,NA18523,NA18858,NA18909,NA19108,NA19114,NA19147,NA19257 dgv287n21 3 60034081 60039336 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520108,nsv523496 M 2026 0 2 FHIT nsv519729 3 60037694 60039336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657939,nssv674612 M 2026 0 2 FHIT dgv178e55 3 60042436 60263468 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752011,esv2752010 M 771 0 2 FHIT BEC_759,SPC_113 nsv519855 3 60043770 60251762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685618,nssv692820,nssv672682,nssv659103,nssv683006,nssv684337 M 2026 0 6 FHIT nsv876840 3 60058333 60169610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540848 S 6533 0 1 FHIT MS15060 nsv834708 3 60131131 60280492 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442847 S 95 0 1 FHIT dgv5145n71 3 60164511 60247357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876841,nsv876843 M 6533 0 3 FHIT IS38184,MS17820,MS22601 esv2422232 3 60167241 60309595 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161291 S 181 0 1 FHIT ND02645 nsv876842 3 60171577 60208127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584749,nssv1574317 M 6533 0 2 FHIT IS33543,IS37167 esv2622202 3 60214599 60216200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170098 S 1 0 1 FHIT NA18507 dgv5146n71 3 60231525 60342647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876844,nsv876845 M 6533 0 3 FHIT IS39473,MS10735,MS15347 esv260046 3 60241671 60241923 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399384,essv2400963,essv2398839,essv2398965,essv2397777,essv2394554,essv2398740,essv2396381 M 144 0 0 Samples from several populations that are part of the HapMap project. FHIT NA12287,NA18547,NA18582,NA18603,NA18956,NA18965,NA19005,NA19138 nsv517248 3 60268044 60270121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685124,nssv671968,nssv684151,nssv686362,nssv656478,nssv669436,nssv685340,nssv663445,nssv680674,nssv688934,nssv656127,nssv665293,nssv682439,nssv684759,nssv677341,nssv654888,nssv679665,nssv657480,nssv655973,nssv677835,nssv660403,nssv689735,nssv683053,nssv671269,nssv681668,nssv667848,nssv690611,nssv676964,nssv657904,nssv654813,nssv664475,nssv664411,nssv692409,nssv670288,nssv660494,nssv666136,nssv657848,nssv686960,nssv690080,nssv668360,nssv669606,nssv654120,nssv681555,nssv652105,nssv693265,nssv667430,nssv691738 M 2026 0 47 FHIT nsv519353 3 60285830 60392143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696807 S 2026 0 1 FHIT nsv3844 3 60318300 60349155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3169 S 9 1 0 FHIT NA12878 dgv5147n71 3 60322162 60357868 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876846,nsv876847 M 6533 0 2 FHIT IS36179,SP56849 dgv5148n71 3 60342647 60407332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876850,nsv876848,nsv876849 M 6533 0 3 FHIT SP54635,SP55146,SP58241 nsv520224 3 60360805 60383444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697291 S 2026 0 1 FHIT nsv460569 3 60363362 60620174 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537112 S 1557 1 0 FHIT 1782681329_A dgv5149n71 3 60374362 60433878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876851,nsv876852 M 6533 0 5 FHIT MS11494,MS12564,MS16656,MS23258,MS24792 nsv460570 3 60393402 60440179 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537113 S 1557 0 1 FHIT NINDS_134 nsv876853 3 60395705 60487929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520780 S 6533 0 1 FHIT SP51250 nsv526066 3 60407332 60416119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702306 S 2026 0 1 FHIT nsv522508 3 60407332 60423301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705876 S 2026 0 1 FHIT nsv876854 3 60407332 60447249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594796 S 6533 0 1 FHIT IS40027 nsv524767 3 60413066 60506282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700758 S 2026 0 1 FHIT nsv876855 3 60423301 60475589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551939 S 6533 0 1 FHIT MS19023 esv2510521 3 60435268 60436471 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177784 S 1 1 0 FHIT NA18507 esv275190 3 60447450 60452682 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585834,essv2585596 M 1250 1 1 FHIT dgv5150n71 3 60447855 60548809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876857,nsv876856 M 6533 0 2 FHIT SP52297,SP55797 esv270720 3 60470320 60472032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497791,essv2496064,essv2512782 M 157 3 0 Samples from several populations that are part of the HapMap project. FHIT NA18555,NA18603,NA18980 nsv876858 3 60481389 60494616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502802 S 6533 0 1 FHIT SP51419 nsv834709 3 60493290 60651549 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442848 S 95 1 0 FHIT nsv876859 3 60494616 60551117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547470 S 6533 0 1 FHIT MS17394 nsv876860 3 60506282 60532725 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548598 S 6533 1 0 FHIT MS17878 nsv507097 3 60509474 60515474 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622854 S 4 1 0 FHIT NA18994 esv2485847 3 60512042 60512599 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287385 S 1 1 0 FHIT NA18507 nsv460573 3 60515705 60704155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537115 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FHIT HGDP00134 nsv876861 3 60532892 60555062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534041 S 6533 0 1 FHIT MS11435 nsv876862 3 60541532 60639115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588564 S 6533 0 1 FHIT IS38217 nsv520671 3 60564450 60576093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697549 S 2026 0 1 FHIT nsv3845 3 60589837 60623247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5970 S 9 1 0 FHIT NA19129 nsv876863 3 60615946 60728406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599503 S 6533 0 1 FHIT IS41648 dgv1459e1 3 60650681 60689812 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12067,esv932 M 271 0 0 FHIT NA19238 nsv518490 3 60696818 60697675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695929 S 2026 0 1 FHIT nsv3846 3 60729284 60774540 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7813 S 9 0 1 FHIT NA12156 dgv1460e1 3 60756983 61016168 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24815,essv24600 M 271 0 0 FHIT NA10860,NA11992 esv561 3 60756983 61195849 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FHIT essv12872 3 60775739 60919051 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FHIT NA18502 dgv1461e1 3 60792362 60896747 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21367,essv22249 M 271 0 0 FHIT NA10860,NA11992 nsv437724 3 60798055 60892873 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467605 S 60 0 1 Samples from several populations that are part of the HapMap project. FHIT NA10860 nsv437861 3 60801472 60878151 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471264,nssv471267,nssv471263,nssv471266,nssv471265,nssv471261,nssv471262,nssv471269 M 269 0 3 Samples from several populations that are part of the HapMap project. FHIT NA10835,NA10860,NA11992 nsv818143 3 60804042 60882939 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415824,nssv1415825 M 112 0 2 FHIT NA10860,NA11992 dgv179e55 3 60804420 60883100 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34507,esv34469 M 771 0 2 FHIT NA10860,NA11992 esv24503 3 60808020 60818266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11454 S 451 0 1 FHIT NA19257 esv1753481 3 60820831 60820831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634556 S 2 1 0 FHIT HuRef esv1172588 3 60821953 60821953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844592 S 2 1 0 FHIT HuRef nsv876864 3 60823786 61078649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511858 S 6533 0 1 FHIT SP55131 esv2752012 3 60894434 60991079 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982927,essv6982926,essv6982925 M 771 1 0 FHIT BEC_527 esv34680 3 60958320 61028019 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979797,essv6979798,essv6988246 M 771 0 1 FHIT NA18632 essv7665 3 60968955 61027682 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FHIT NA18632 nsv834710 3 60970671 61123197 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442849 S 95 1 0 FHIT nsv876865 3 60971260 61021995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548599 S 6533 1 0 FHIT MS17878 essv5509 3 60971918 61160598 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FHIT NA18632 nsv460574 3 61015324 61029385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537116 S 1557 0 1 FHIT 1780862085_A nsv876866 3 61029534 61285368 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529378 S 6533 1 0 FHIT SP81513 nsv876867 3 61029534 61449615 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519599 S 6533 1 0 FHIT SP50076 esv268513 3 61032411 61032637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501121,essv2506528 M 157 2 0 Samples from several populations that are part of the HapMap project. FHIT NA18516,NA19108 essv6074 3 61039472 61094963 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FHIT NA18621 nsv10275 3 61102103 61103744 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28803 S 31 0 1 Samples from several populations that are part of the HapMap project. FHIT NA10863 esv25096 3 61102231 61103214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19988 S 451 0 3 FHIT NA11993,NA11995,NA12749 nsv10276 3 61114254 61117051 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28913 S 31 1 0 Samples from several populations that are part of the HapMap project. FHIT NA19007 essv22719 3 61119467 61195849 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FHIT NA12239 nsv876868 3 61120090 61257543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548600 S 6533 1 0 FHIT MS17878 nsv527725 3 61133463 61135266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704206 S 2026 0 1 FHIT nsv876869 3 61332457 61419483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552181 S 6533 0 1 "" MS19277 esv27277 3 61360271 61361052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15457 S 451 0 3 "" NA18502,NA18505,NA18508 nsv834711 3 61388802 61587579 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442853,nssv1442850 M 95 0 2 PTPRG esv22655 3 61391187 61391913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15246 S 451 0 2 "" NA11894,NA12749 esv1577407 3 61395223 61395524 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824925 S 2 0 1 "" HuRef nsv876870 3 61400205 61465786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501578 S 6533 0 1 "" SP51132 esv2543621 3 61449699 61451150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182021 S 1 0 1 "" NA18507 esv2377651 3 61449926 61450585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625028 S 1 0 1 "" NA18507 esv1001916 3 61449979 61450859 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564899 S 3 0 1 "" HuRef esv3929 3 61450045 61450463 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26370 S 1 0 1 Single Asian sample YH "" YH esv996711 3 61450090 61450412 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575849 S 3 0 1 "" HuRef esv6370 3 61450095 61450416 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28811 S 1 0 1 "" SJK esv1476463 3 61450103 61450426 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085713 S 2 0 1 "" HuRef nsv822105 3 61506557 61531299 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428165 S 31 1 0 PTPRG AK10 esv23804 3 61521467 61525595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20235 S 451 0 1 PTPRG NA12156 dgv1462e1 3 61544597 61611196 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3613,esv1382 M 271 0 0 PTPRG NA18969 esv35004 3 61545189 61601466 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987038,essv6980215,essv6980216 M 771 1 0 PTPRG NA18969 nsv822106 3 61552795 61606118 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440960 S 31 1 0 PTPRG NA18969 nsv834712 3 61587580 61745272 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442854 S 95 1 0 PTPRG nsv876871 3 61623676 61700818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590503,nssv1601092,nssv1572097 M 6533 0 3 PTPRG IS32871,IS38516,IS41968 nsv236686 3 61635225 61637170 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255264 M 24 PTPRG esv2554644 3 61640796 61642357 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296787 S 1 0 1 PTPRG NA18507 esv2386760 3 61641260 61641928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793745 S 1 0 1 PTPRG NA18507 nsv471782 3 61641418 61641818 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646063 M 1.002 95 PTPRG esv2599998 3 61641455 61641724 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186714 S 1 0 1 PTPRG NA18507 esv1001407 3 61641457 61641726 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576829 S 3 0 1 PTPRG HuRef esv1631216 3 61641457 61641727 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148507 S 2 0 1 PTPRG HuRef esv1005605 3 61698973 61699032 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565905 S 3 0 1 PTPRG HuRef esv1217921 3 61698992 61699050 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111075 S 2 0 1 PTPRG HuRef dgv5151n71 3 61763660 61879985 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876872,nsv876873 M 6533 2 0 PTPRG MS17878,MS17968 esv2223333 3 61763994 61764405 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897571 S 1 0 1 PTPRG NA18507 nsv516255 3 61806570 61809982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685947,nssv667094 M 2026 0 2 PTPRG nsv523876 3 61806570 61819146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699718 S 2026 0 1 PTPRG nsv876874 3 61828963 61896824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560852 S 6533 0 1 PTPRG MS24736 esv2548031 3 61845877 61846989 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277876 S 1 1 0 PTPRG NA18507 nsv517920 3 61917106 61924499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695331 S 2026 0 1 PTPRG esv22782 3 61936017 61940621 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19085 S 451 0 1 PTPRG NA19099 nsv876875 3 61940143 61979526 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548602 S 6533 1 0 PTPRG MS17878 esv270382 3 61948353 61948496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512620,essv2494079,essv2499192,essv2497499,essv2502224 M 157 5 0 Samples from several populations that are part of the HapMap project. PTPRG NA18489,NA18871,NA19114,NA19147,NA19257 nsv460575 3 61987727 62019648 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537117 S 1557 1 0 PTPRG 1780862586_A esv259746 3 62080976 62081285 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394781,essv2396544,essv2400763,essv2399701,essv2396157,essv2396640,essv2396298,essv2400847,essv2400399,essv2396178,essv2397111,essv2395828,essv2399310,essv2398043 M 144 0 0 Samples from several populations that are part of the HapMap project. PTPRG NA07357,NA11919,NA12717,NA12828,NA18523,NA18526,NA18558,NA18564,NA18592,NA18944,NA18951,NA18961,NA19102,NA19147 nsv437862 3 62153778 62157696 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471272,nssv471271,nssv471270 M 269 0 3 Samples from several populations that are part of the HapMap project. PTPRG NA18576,NA18960,NA18980 nsv522606 3 62164229 62173375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705998 S 2026 0 1 PTPRG esv992591 3 62506096 62514667 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563849 S 3 0 1 CADPS HuRef esv274340 3 62535025 62535290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584054,essv2583416 M 7 2 0 Samples from several populations that are part of the HapMap project. CADPS NA19238,NA19240 esv268322 3 62535026 62535299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509711,essv2493813,essv2498533,essv2507359,essv2495675,essv2506461,essv2512032,essv2498107 M 157 8 0 Samples from several populations that are part of the HapMap project. CADPS NA18508,NA18517,NA18858,NA18912,NA18916,NA19108,NA19238,NA19240 nsv876876 3 62559100 62606593 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601078 S 6533 1 0 CADPS IS41966 esv1691841 3 62560491 62560491 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823128 S 2 1 0 CADPS HuRef nsv437330 3 62580981 62587320 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467211 S 60 0 1 Samples from several populations that are part of the HapMap project. CADPS NA19202 esv2646380 3 62584899 62587539 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173882 S 1 0 1 CADPS NA18507 esv22120 3 62585242 62587380 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11046,esv13247 M 451 0 5 CADPS NA18508,NA18523,NA18909,NA19147,NA19225 esv1986039 3 62585458 62587263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641482 S 1 0 1 CADPS NA18507 nsv471783 3 62585615 62587124 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646064 M 0.170 95 CADPS dgv605n27 3 62585665 62587053 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460578,nsv460577 M 1557 0 2 CADPS HGDP00908,HGDP01255 nsv517351 3 62585665 62587053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692350,nssv669251,nssv654013,nssv669160,nssv657504,nssv685821,nssv670419,nssv691807,nssv681338,nssv668593,nssv692084,nssv671855,nssv666926,nssv664785,nssv653341,nssv659994,nssv657968,nssv674907,nssv657940,nssv663007,nssv682097,nssv669321,nssv672218,nssv661690,nssv664338,nssv669756,nssv659638,nssv665418,nssv662541,nssv659436,nssv686230,nssv689269,nssv661282,nssv681743,nssv693912,nssv692714,nssv689587,nssv689401,nssv682420,nssv664066,nssv654407,nssv666351,nssv679089,nssv678868,nssv686340,nssv655099,nssv655942,nssv657400,nssv675549,nssv663174,nssv678576,nssv674807,nssv673795,nssv691068,nssv684652,nssv658643,nssv665825,nssv667127,nssv677676,nssv658128,nssv684404,nssv676267,nssv684302,nssv689920,nssv685051,nssv673971,nssv674691,nssv659579,nssv680194,nssv683627,nssv674314,nssv693697,nssv671647,nssv666654,nssv684230,nssv693233,nssv658680,nssv662361,nssv669197,nssv679322,nssv658458,nssv653832,nssv663707,nssv689045,nssv688208,nssv686604,nssv665540,nssv679879,nssv654593,nssv654731,nssv673409,nssv669308,nssv663902,nssv685696,nssv684760,nssv658333,nssv687615,nssv685735,nssv678279,nssv693064,nssv656517,nssv662969,nssv658024,nssv690685,nssv653830,nssv671783,nssv652180,nssv686241,nssv656657,nssv671446,nssv687590,nssv680156,nssv690162,nssv675945,nssv686532,nssv662822,nssv685713,nssv688268,nssv659722,nssv691878,nssv662001,nssv658505,nssv687968,nssv673538,nssv665750,nssv667364,nssv678056,nssv662172,nssv679647,nssv670374,nssv664233 M 2026 0 131 CADPS nsv818144 3 62585665 62587053 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416536,nssv1416836,nssv1418138,nssv1416712,nssv1416713 M 112 0 5 CADPS NA19145,NA19159,NA19161,NA19171,NA19239 esv2421495 3 62585665 62587235 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016094,essv5096880,essv5076105,essv5086488,essv5004196,essv5088034,essv5007659,essv5084197,essv5052342,essv5079029,essv5074852,essv5112781,essv5015867,essv5112381,essv5083257,essv5081254,essv5158909,essv5089212,essv5159017,essv5143997,essv5058905,essv5112943,essv5092713,essv5133769,essv5097658,essv5018482,essv5130270,essv5119369,essv5093108,essv5091073,essv5107120,essv5140440,essv5123908,essv5123617,essv5028925,essv5132662,essv5089305,essv5031951,essv5116922,essv5021995,essv5031534,essv5061732,essv5002506,essv5083179,essv5109836,essv5032428,essv5017181,essv5109087,essv5052864,essv5026423,essv5049538,essv5077711,essv5088593,essv5086308,essv5004124,essv5057520,essv5041961,essv5096608,essv5091348,essv5158160,essv5131508,essv5093332,essv5123206,essv5063543,essv5119943,essv5106133,essv5056698,essv5109009,essv5102699,essv5068640,essv5155740,essv5067302,essv5122024,essv5003547,essv5097750,essv5105507,essv5161178,essv5116087,essv5064172,essv5129398,essv5099366,essv5103144,essv5038367,essv5024094,essv5058565,essv5104094 M 1184 0 86 CADPS NA18484,NA18485,NA18487,NA18488,NA18497,NA18499,NA18506,NA18507,NA18508,NA18509,NA18909,NA18911,NA18924,NA18925,NA19041,NA19107,NA19109,NA19143,NA19147,NA19148,NA19150,NA19159,NA19161,NA19171,NA19178,NA19181,NA19185,NA19200,NA19202,NA19204,NA19213,NA19214,NA19215,NA19224,NA19225,NA19239,NA19248,NA19352,NA19376,NA19383,NA19399,NA19437,NA19439,NA19457,NA19470,NA19473,NA19708,NA19914,NA19915,NA19916,NA19918,NA20281,NA20294,NA20332,NA20333,NA20341,NA20349,NA20350,NA21311,NA21353,NA21378,NA21381,NA21408,NA21418,NA21424,NA21425,NA21436,NA21440,NA21486,NA21487,NA21491,NA21510,NA21519,NA21529,NA21574,NA21575,NA21578,NA21619,NA21635,NA21636,NA21678,NA21717,NA21718,NA21739,NA21741,NA21776 nsv460579 3 62625164 62635875 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537120 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CADPS HGDP01182 nsv437331 3 62633191 62674240 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467212 S 60 0 1 Samples from several populations that are part of the HapMap project. CADPS NA18503 nsv876877 3 62634698 62650337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601079 S 6533 1 0 CADPS IS41966 nsv436384 3 62639373 62671804 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466002 S 2 0 1 Samples from several populations that are part of the HapMap project. CADPS NA18505 esv27801 3 62639377 62670447 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10781 S 451 0 1 CADPS NA18505 nsv516380 3 62640320 62671607 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692876,nssv678014,nssv667919,nssv678077,nssv686934,nssv681168,nssv676118,nssv672741,nssv686112 M 2026 0 9 CADPS nsv876878 3 62653876 62708072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601080 S 6533 1 0 CADPS IS41966 nsv822107 3 62675454 62676577 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440961 S 31 1 0 CADPS NA18969 nsv460580 3 62682559 62689349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537121 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CADPS HGDP00932 dgv72n17 3 62685389 62691840 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437332,nsv437333 M 60 0 2 CADPS NA18500,NA18872 nsv10277 3 62686130 62692157 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28825 S 31 0 1 Samples from several populations that are part of the HapMap project. CADPS NA19144 nsv517777 3 62686342 62689349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656981,nssv653213,nssv680487,nssv659755,nssv656406,nssv698604,nssv687616,nssv661022,nssv677875,nssv678197,nssv665364,nssv663131,nssv692614,nssv658129,nssv669514,nssv686453,nssv675265,nssv677536,nssv693384,nssv692332,nssv666521,nssv689402,nssv677925,nssv670168,nssv696588,nssv664317,nssv654481 M 2026 0 27 CADPS nsv818146 3 62686342 62689349 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418139,nssv1416714,nssv1416430,nssv1418140 M 112 0 4 CADPS NA18516,NA19144,NA19145,NA19160 esv2421421 3 62686342 62690900 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5031902,essv5092512,essv5113609,essv5012560,essv5027475,essv5106319,essv5080588,essv5158918,essv5015392,essv5054467,essv5012652,essv5014258,essv5044039,essv5013640,essv5048412,essv5046231,essv5117191,essv5019640,essv5022419,essv5140033,essv5119577,essv5089699,essv5158541,essv5079365,essv5132810,essv5120595,essv5060202 M 1184 0 27 CADPS NA18489,NA18500,NA18501,NA18516,NA18870,NA18872,NA19128,NA19144,NA19160,NA19198,NA19199,NA19210,NA19379,NA19385,NA19439,NA19713,NA19774,NA19908,NA19919,NA19985,NA20300,NA20301,NA20302,NA20333,NA20340,NA21420,NA21617 esv22376 3 62686359 62690903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10727 S 451 0 1 CADPS NA18907 nsv441824 3 62687720 62690900 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CADPS nsv514152 3 62688184 62690520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627586 S 1414 0 1 CADPS nsv876879 3 62758012 62943547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601081 S 6533 1 0 CADPS IS41966 nsv876880 3 62772155 62858090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548603 S 6533 1 0 CADPS MS17878 nsv520303 3 62916288 62917498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662701,nssv678247 M 2026 0 2 "" esv33787 3 62935097 62967478 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101605 S 51 0 1 "" 21603 nsv520977 3 62943547 62968123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687055,nssv679129,nssv705286,nssv690003 M 2026 0 4 "" nsv876881 3 62968123 63155203 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601082 S 6533 1 0 LOC285401 IS41966 dgv76n68 3 62980387 63203963 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv834715,nsv834714 M 95 2 0 LOC285401 esv21683 3 63103058 63116775 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16994 S 451 0 1 "" NA19225 esv2421375 3 63103632 63111620 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066372,essv5152628,essv5137645,essv5063854,essv5129268,essv5072286,essv5055208,essv5105867,essv5010722,essv5113307,essv5091716,essv5127237,essv5076902,essv5011439,essv5148041,essv5067362,essv5119355,essv5132589,essv5027444,essv5072102 M 1184 0 20 "" NA17976,NA18853,NA18857,NA19041,NA19094,NA19223,NA19224,NA19225,NA19236,NA19377,NA19399,NA19455,NA19457,NA19470,NA19703,NA19705,NA20127,NA20128,NA20279,NA21491 nsv441825 3 63108165 63110809 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv523825 3 63108344 63110118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699656 S 2026 0 1 "" esv2444765 3 63109337 63110998 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183865 S 1 0 1 "" NA18507 esv2347966 3 63109709 63110541 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862246 S 1 0 1 "" NA18507 esv8062 3 63109894 63110360 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30503 S 1 0 1 "" SJK nsv236434 3 63109898 63110350 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255012 M 24 "" nsv516411 3 63110118 63118747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656861,nssv668182,nssv691851 M 2026 0 3 "" nsv3847 3 63112949 63130828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9619 S 9 1 0 "" NA18507 nsv876882 3 63132572 63169075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599186 S 6533 1 0 "" IS41424 nsv822108 3 63155127 63155757 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434316 S 31 1 0 "" NA18570 esv268313 3 63184011 63184354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514035,essv2516343,essv2515668,essv2516074 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12814,NA12815,NA12873 esv2469839 3 63199464 63200571 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217400 S 1 1 0 "" NA18507 esv1000166 3 63199920 63200606 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587265 S 3 0 1 "" HuRef nsv822110 3 63199920 63200730 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424092 S 31 0 1 "" NA18582 nsv876883 3 63204933 63241981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601083 S 6533 1 0 SYNPR IS41966 esv1498199 3 63222298 63222609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642507 S 2 0 1 "" HuRef esv2413754 3 63231443 63231877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819502 S 1 0 1 "" NA18507 dgv117n6 3 63231571 63231689 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237011,nsv237573 M 24 "" esv1245459 3 63231622 63231716 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829178 S 2 0 1 "" HuRef esv25050 3 63247034 63248203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12025 S 451 0 5 SYNPR NA11993,NA12156,NA12489,NA12828,NA12878 esv1548229 3 63274804 63274804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837719 S 2 1 0 SYNPR HuRef esv2422509 3 63476509 63624979 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161261 S 181 0 1 SNTN,SYNPR ND04575 esv23041 3 63490532 63491001 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12290 S 451 0 1 SYNPR NA12878 nsv876884 3 63491461 63538322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562596 S 6533 1 0 SYNPR MS25669 nsv3848 3 63509834 63542938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7814 S 9 1 0 SYNPR NA12156 esv273179 3 63515958 63516333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580937 S 7 1 0 Samples from several populations that are part of the HapMap project. SYNPR NA19238 esv271251 3 63515967 63516314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514659,essv2517081,essv2515293,essv2514919,essv2515633,essv2517905,essv2515879,essv2516929,essv2519449 M 157 9 0 Samples from several populations that are part of the HapMap project. SYNPR NA07346,NA11840,NA11931,NA12249,NA12812,NA12815,NA12872,NA12873,NA12892 nsv834716 3 63538598 63748687 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442857 S 95 0 1 SNTN,SYNPR nsv876885 3 63554309 63597618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555489 S 6533 0 1 SYNPR MS21397 esv1696258 3 63556473 63556549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968680 S 2 0 1 SYNPR HuRef nsv876886 3 63578550 63868517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548604 S 6533 1 0 ATXN7,C3orf49,SNTN,THOC7 MS17878 nsv3849 3 63593507 63627575 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7815 S 9 1 0 SNTN NA12156 nsv460581 3 63615641 63648374 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537122 S 1557 0 1 SNTN NINDS_112 nsv520563 3 63648374 63648835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677342,nssv672555 M 2026 0 2 "" esv22982 3 63711523 63713456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17250 S 451 0 1 "" NA18909 nsv509828 3 63853994 63859994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623904 S 4 0 1 ATXN7 NA18994 esv32871 3 63873885 63874334 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100796 S 51 0 1 ATXN7 21656 nsv3850 3 63901108 63946341 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7817 S 9 0 1 ATXN7 NA12156 nsv834717 3 64047616 64225944 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442858 S 95 1 0 LOC100287879,PRICKLE2 nsv522355 3 64067903 64074609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695134 S 2026 0 1 PRICKLE2 dgv288n21 3 64086759 64090487 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525140,nsv527557 M 2026 0 2 PRICKLE2 nsv822111 3 64098421 64099455 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440258 S 31 0 1 PRICKLE2 NA18564 nsv518137 3 64125246 64146794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695556 S 2026 0 1 PRICKLE2 nsv876887 3 64130038 64145652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518253 S 6533 0 1 PRICKLE2 SP57481 nsv528206 3 64135169 64146794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704767 S 2026 0 1 PRICKLE2 nsv515640 3 64136278 64146794 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664203,nssv661155 M 2026 2 0 PRICKLE2 nsv3851 3 64139851 64184763 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7818 S 9 0 1 PRICKLE2 NA12156 esv268981 3 64193944 64194029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514030 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv3852 3 64265111 64299679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv304 S 9 1 0 "" NA19240 dgv289n21 3 64331371 64544123 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519887,nsv522703 M 2026 2 0 ADAMTS9 esv271013 3 64374192 64374567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496831,essv2494291,essv2493744,essv2493517 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18517,NA19137 esv275269 3 64399144 64402142 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585732 S 1250 0 1 "" esv21901 3 64404825 64405300 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20316 S 451 2 0 "" NA18508,NA19257 dgv809n67 3 64508115 64510660 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822114,nsv822113,nsv822112 M 31 4 0 ADAMTS9 AK18,NA18582,NA18968,NA18999 esv259785 3 64508161 64510792 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395041,essv2397176,essv2400618,essv2397060,essv2400459 M 144 0 0 Samples from several populations that are part of the HapMap project. ADAMTS9 NA18571,NA18572,NA18576,NA19239,NA19240 esv259423 3 64508177 64510747 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393980,essv2394353 M 6 0 0 Samples from several populations that are part of the HapMap project. ADAMTS9 NA19239,NA19240 esv28694 3 64508462 64510907 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18163 S 451 1 0 ADAMTS9 NA19240 nsv834718 3 64525493 64719594 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442859 S 95 1 0 ADAMTS9,ADAMTS9-AS2,MIR548AN esv272472 3 64625986 64626071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581539 S 7 1 0 Samples from several populations that are part of the HapMap project. ADAMTS9 NA12878 dgv5152n71 3 64659723 64744136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876889,nsv876888 M 6533 0 2 ADAMTS9-AS2,MIR548AN IS39326,MS24528 nsv523418 3 64726782 64730279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699171 S 2026 0 1 ADAMTS9-AS2,MIR548AN nsv509829 3 64731184 64737184 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623905,nssv618574 M 4 0 2 ADAMTS9-AS2,MIR548AN CHM,NA18994 nsv435772 3 64894122 64897658 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466003 S 2 0 1 ADAMTS9-AS2,MIR548AN NA15510 nsv3853 3 64913222 64947180 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7819 S 9 1 0 ADAMTS9-AS2,MIR548AN NA12156 dgv1463e1 3 64922928 64933281 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1410,essv14022 M 271 0 0 ADAMTS9-AS2 NA18862 nsv876890 3 64946909 64970597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513922 S 6533 0 1 ADAMTS9-AS2 SP55878 nsv460582 3 64996986 65052516 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537123 S 1557 0 1 "" 1780854599_A dgv290n21 3 65057407 65058099 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528388,nsv522739 M 2026 0 2 "" nsv507098 3 65064797 65070797 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617601,nssv621702 M 4 2 0 "" CHM,NA10860 nsv511213 3 65091717 65096305 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626699 S 1 0 1 "" 1 nsv819000 3 65092123 65099053 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419798 S 2 1 0 "" AK1 nsv513048 3 65092673 65094839 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626531 S 1 0 1 "" 1 esv29471 3 65092777 65094831 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20073 S 451 33 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225,NA19240,NA19257 nsv820343 3 65092777 65095013 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420321 S 1 0 1 "" NA10851 nsv822115 3 65092777 65095013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434317 S 31 0 1 "" NA18570 nsv822116 3 65092789 65094352 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424919,nssv1432733,nssv1438907,nssv1425324,nssv1421793 M 31 5 0 "" NA18547,NA18592,NA18947,NA18968,NA18972 nsv471784 3 65092929 65094629 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646065 M 0.125 95 "" esv270423 3 65107933 65108047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507712,essv2504111,essv2509803,essv2508996,essv2508723,essv2494581,essv2507677,essv2508484,essv2499216,essv2498494,essv2513351,essv2495715,essv2511082,essv2499093,essv2499670 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA12751,NA18505,NA18508,NA18522,NA18532,NA18550,NA18576,NA18582,NA18605,NA18858,NA18907,NA18916,NA18944,NA19114,NA19225 esv274402 3 65133128 65133454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582199,essv2582380 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv606n27 3 65151156 65190844 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460586,nsv460584,nsv460596,nsv460587,nsv460591,nsv460588,nsv460589,nsv460593,nsv460590,nsv460595,nsv460585,nsv460592 M 1557 0 12 "" 1780854063_A,1780854096_A,1780854197_A,1780854340_A,1780854362_A,1780862388_A,1782681144_A,1798860280_A,HGDP00533,HGDP01310,NINDS_70,NINDS_83 dgv1464e1 3 65151156 65199576 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1060,essv23635 M 271 0 0 "" NA07055 nsv516641 3 65154959 65187636 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669221,nssv668640,nssv669563,nssv678372,nssv657006,nssv652076,nssv652255,nssv658190,nssv660020,nssv658842,nssv667604,nssv675201,nssv685147,nssv652538,nssv674732,nssv683484,nssv682946,nssv667031,nssv677480,nssv691778,nssv689629,nssv657384,nssv675317,nssv657539,nssv661448,nssv677700,nssv669778,nssv663737,nssv682028,nssv669361,nssv654631,nssv661475,nssv686006,nssv657955,nssv687778,nssv678126,nssv652982,nssv674205,nssv682829,nssv677133,nssv689246,nssv653437,nssv654781,nssv661934,nssv654763,nssv690291,nssv687220,nssv672031,nssv666721,nssv678033,nssv683172,nssv680978,nssv678226,nssv655994,nssv661845,nssv682757,nssv660475,nssv684912,nssv681005,nssv682563,nssv681470,nssv680802,nssv667431,nssv670857,nssv653261,nssv654849,nssv671753,nssv655529,nssv684081,nssv669409,nssv680215,nssv663427,nssv689150,nssv688963,nssv682933,nssv666678,nssv670454,nssv668412,nssv654864,nssv678351,nssv655816,nssv693609,nssv680114,nssv662717,nssv684479,nssv656479,nssv667628,nssv685017,nssv660413,nssv683054,nssv665101,nssv662632,nssv656218,nssv662513,nssv692902,nssv660597,nssv683346,nssv680918,nssv661570,nssv662412,nssv682770,nssv684198,nssv675297,nssv688747,nssv655911,nssv679955,nssv692410,nssv673657,nssv690514,nssv661544,nssv684603,nssv683751,nssv659922,nssv675215,nssv673854,nssv697328,nssv664204,nssv686404,nssv684105,nssv687074,nssv663784,nssv673242,nssv684492,nssv678557,nssv684184,nssv692676,nssv658110,nssv669808,nssv669607,nssv681700,nssv693038,nssv691207,nssv676718,nssv682137,nssv654102,nssv689901,nssv675746,nssv682467,nssv678970,nssv666765,nssv653275,nssv686265,nssv677645,nssv678174,nssv659177,nssv687800,nssv690572,nssv654430,nssv667883,nssv691679,nssv690704,nssv671131,nssv692692,nssv673487,nssv651849,nssv680296,nssv654544,nssv656449,nssv656951,nssv653547,nssv689101,nssv676783,nssv653191,nssv656031,nssv682154,nssv680598,nssv683214 M 2026 0 167 "" dgv5153n71 3 65154959 65194661 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876893,nsv876895,nsv876896,nsv876892,nsv876894,nsv876891 M 6533 0 313 "" IS30198,IS30284,IS30348,IS30411,IS30653,IS30668,IS30720,IS31335,IS31359,IS31546,IS31576,IS31821,IS31837,IS31909,IS32411,IS32766,IS32808,IS33070,IS33200,IS33232,IS33403,IS33460,IS33494,IS33519,IS33559,IS33788,IS33800,IS33832,IS33836,IS33890,IS34184,IS34374,IS34397,IS34422,IS34482,IS34648,IS34737,IS34805,IS34951,IS35007,IS35010,IS35088,IS35167,IS35176,IS35242,IS35277,IS35294,IS35528,IS35561,IS35594,IS35682,IS35728,IS35833,IS35862,IS35940,IS35949,IS36298,IS36330,IS36400,IS36412,IS36424,IS36463,IS36536,IS36789,IS36825,IS36973,IS37065,IS37116,IS37157,IS37325,IS37342,IS37415,IS37621,IS37889,IS38031,IS38224,IS38240,IS38322,IS38475,IS38648,IS38651,IS38671,IS38972,IS39116,IS39119,IS39194,IS39326,IS39348,IS39356,IS39363,IS39365,IS39373,IS39515,IS39516,IS39637,IS39672,IS39687,IS39759,IS40012,IS40205,IS40226,IS40230,IS40329,IS40346,IS40387,IS40680,IS40775,IS40785,IS40795,IS40809,IS40843,IS40898,IS40942,IS40956,IS40989,IS41043,IS41113,IS41424,IS41497,IS41664,IS41877,IS41905,IS41938,IS41955,MS10123,MS10227,MS10278,MS10280,MS10330,MS10413,MS10535,MS10674,MS10733,MS10816,MS10948,MS11271,MS11284,MS11481,MS11482,MS11750,MS11854,MS11980,MS12017,MS12614,MS12615,MS12644,MS12791,MS12943,MS12991,MS13253,MS13721,MS13872,MS14068,MS14164,MS14334,MS14433,MS14828,MS14842,MS15041,MS15145,MS15168,MS15312,MS15576,MS15715,MS15748,MS15768,MS15826,MS16011,MS16036,MS16039,MS16117,MS16419,MS16656,MS16697,MS16808,MS17126,MS17193,MS17204,MS17235,MS17278,MS17321,MS17678,MS17680,MS17739,MS17785,MS17825,MS18003,MS18252,MS18256,MS18529,MS18694,MS18788,MS18979,MS18993,MS19140,MS19517,MS20073,MS20254,MS20334,MS20741,MS20828,MS20854,MS21022,MS21195,MS21225,MS21637,MS21700,MS21737,MS21758,MS21833,MS22179,MS22338,MS22580,MS23142,MS23191,MS23258,MS23487,MS23550,MS23697,MS23714,MS23770,MS23871,MS23973,MS24015,MS24032,MS24173,MS24450,MS24483,MS24498,MS24623,MS24714,MS24997,MS25193,MS25300,MS25303,MS25357,MS25396,MS25509,MS25511,MS25940,MS26033,SP50046,SP50118,SP50153,SP50170,SP50604,SP50694,SP50805,SP51063,SP51146,SP51234,SP51250,SP51261,SP51290,SP51402,SP52224,SP52263,SP52303,SP52318,SP52351,SP52621,SP52689,SP52800,SP52829,SP52921,SP52955,SP53023,SP53144,SP53491,SP53585,SP53596,SP53709,SP53803,SP53838,SP54006,SP54753,SP54892,SP54958,SP55102,SP55126,SP55134,SP55179,SP55463,SP55473,SP55699,SP56207,SP56348,SP56653,SP56658,SP56805,SP56936,SP57147,SP57536,SP57603,SP57689,SP57817,SP57860,SP57950,SP57959,SP58031,SP58053,SP58168,SP58265,SP80943,SP81172,SP81211,SP81352,SP81353,SP81385,SP81414,SP81417,SP81501,SP81507 dgv46n64 3 65159939 65190844 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818147,nsv818148 M 112 0 2 "" NA12056,NA12750 dgv73n17 3 65159939 65193676 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437768,nsv437746,nsv437735,nsv437757 M 60 0 4 "" NA07048,NA10835,NA10857,NA12878 nsv876897 3 65159939 65204800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548605 S 6533 1 0 "" MS17878 dgv1465e1 3 65161278 65199576 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18693,essv2564,essv24114,essv18527,essv4217,essv7515,essv17859,essv18798,essv3607,essv23103,essv2722,essv19472,essv19374,essv4098,essv17685 M 271 0 0 "" NA07019,NA07048,NA10835,NA10857,NA12043,NA12056,NA12248,NA12750,NA12763,NA18529,NA18532,NA18609,NA18944,NA18969,NA18974 nsv10278 3 65163123 65190581 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29160 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv2421789 3 65163493 65189725 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5073201,essv5142447,essv5027845,essv5154359,essv5055160,essv5015359,essv5008820,essv5004965,essv5057816,essv5020857,essv5105529,essv5038616,essv5076607,essv5039806,essv5158552,essv5057814,essv5082915,essv5002379,essv5140175,essv5157233,essv5159811,essv5074218,essv5141462,essv5137397,essv5100322,essv5017479,essv5105868,essv5104624,essv5150633,essv5161039,essv5005139,essv5103742,essv5087245,essv5058209,essv5157653,essv5129575,essv5081110,essv5104576,essv5100567,essv5116306,essv5074593,essv5011623,essv5034376,essv5105672,essv5005297,essv5094304,essv5062706,essv5009332,essv5107042,essv5148344,essv5156122,essv5126631,essv5004983,essv5015189,essv5145168,essv5022620,essv5033287,essv5145269,essv5046453,essv5037742,essv5019685,essv5044881,essv5096279,essv5056311,essv5053784,essv5064538,essv5138572,essv5003629,essv5065618,essv5029302 M 1184 0 70 "" NA07055,NA07056,NA10835,NA10864,NA11893,NA11920,NA12003,NA12043,NA12056,NA12146,NA12248,NA12282,NA12340,NA12716,NA12750,NA12761,NA12763,NA12766,NA12775,NA12830,NA12878,NA12891,NA17983,NA17993,NA17996,NA17999,NA18149,NA18156,NA18529,NA18532,NA18546,NA18609,NA18939,NA18944,NA18946,NA18966,NA18969,NA18974,NA19078,NA19079,NA19083,NA19087,NA19088,NA19664,NA19681,NA19683,NA19684,NA19725,NA19727,NA19762,NA19763,NA19794,NA19795,NA19796,NA20510,NA20522,NA20589,NA20799,NA20815,NA20870,NA20890,NA20894,NA20895,NA20903,NA21092,NA21141,NA21144,NA21344,NA21366,NA21418 dgv5154n71 3 65163493 65193708 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876898,nsv876900,nsv876899,nsv876901 M 6533 0 63 "" SP50073,SP50084,SP50521,SP50527,SP50585,SP50615,SP50695,SP50783,SP50882,SP51021,SP51040,SP51043,SP51056,SP51353,SP51440,SP51469,SP51480,SP51481,SP52195,SP52439,SP52700,SP53333,SP53448,SP53458,SP54173,SP54355,SP54389,SP54424,SP54461,SP54650,SP54684,SP54747,SP54768,SP54782,SP54792,SP55027,SP55287,SP55436,SP55547,SP55553,SP55692,SP55698,SP55797,SP56003,SP56047,SP56094,SP56108,SP56116,SP56125,SP56307,SP57266,SP57269,SP57324,SP57336,SP57404,SP57463,SP57506,SP57545,SP58215,SP58462,SP58556,SP80928,SP81091 nsv499002 3 65163909 65189791 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585863 S 9 0 1 "" esv27703 3 65163961 65189775 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10460 S 451 0 1 "" NA12878 nsv822117 3 65164217 65189913 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428945,nssv1440964 M 31 0 2 "" AK12,NA18969 nsv442861 3 65164275 65185492 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514153 3 65164416 65185448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627587 S 1414 0 1 "" esv33912 3 65164446 65189705 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100877,essv101065,essv92628,essv99353,essv97741,essv98520 M 51 0 6 "" 21656,21693,22233,22275,22278,22352 dgv1466e1 3 65164684 65193708 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21645,essv18013,essv18794,essv24183 M 271 0 0 "" NA07056,NA12761,NA12878,NA12891 nsv470627 3 65166887 65187636 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547412,nssv547456,nssv547345,nssv547445,nssv547390,nssv547323,nssv547312,nssv547334,nssv547368,nssv547434,nssv547401,nssv547379,nssv547468,nssv547357,nssv547423 M 443 0 15 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056,HGDP00070,HGDP00288,HGDP00584,HGDP00604,HGDP00625,HGDP00646,HGDP00648,HGDP00882,HGDP00890,HGDP01278,HGDP01300,HGDP01303,HGDP01305,HGDP01382 nsv818149 3 65166887 65187636 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415624,nssv1416605,nssv1416140,nssv1417091,nssv1416594,nssv1416141,nssv1418355,nssv1417368,nssv1415625,nssv1417336 M 112 0 10 "" NA10835,NA10857,NA12043,NA12146,NA12248,NA12878,NA12891,NA18529,NA18609,NA18944 nsv433215 3 65166887 65189573 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463096 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv517804 3 65166887 65190844 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695208 S 2026 1 0 "" dgv607n27 3 65166887 65193708 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460625,nsv460687,nsv460615,nsv460606,nsv460600,nsv460670,nsv460658,nsv460691,nsv460657,nsv460669,nsv460688,nsv460621,nsv460632,nsv460601,nsv460643,nsv460650,nsv460682,nsv460679,nsv460628,nsv460631,nsv460627,nsv460668,nsv460674,nsv460602,nsv460603,nsv460690,nsv460660,nsv460611,nsv460681,nsv460613,nsv460598,nsv460624,nsv460610,nsv460649,nsv460638,nsv460680,nsv460646,nsv460597,nsv460623,nsv460664,nsv460672,nsv460685,nsv460609,nsv460636,nsv460655,nsv460666,nsv460635,nsv460637,nsv460612,nsv460689,nsv460639,nsv460675,nsv460676,nsv460671,nsv460654,nsv460622,nsv460619,nsv460683,nsv460641,nsv460633,nsv460647,nsv460599,nsv460678,nsv460626,nsv460677,nsv460604,nsv460634,nsv460645,nsv460614,nsv460607,nsv460620,nsv460608,nsv460644,nsv460667,nsv460656,nsv460648,nsv460659,nsv460665,nsv460663,nsv460686,nsv460661,nsv460630,nsv460642 M 1557 0 83 "" 1780854038_A,1780854061_A,1780854079_A,1780854105_A,1780854127_A,1780854130_A,1780854158_A,1780854216_A,1780854391_A,1780854441_A,1780854465_A,1780854480_A,1780854524_A,1780854540_A,1780862021_A,1780862041_A,1780862108_A,1780862126_A,1780862195_A,1780862384_A,1780862443_A,1780862444_A,1780862459_A,1780862469_A,1780862587_A,1780862590_A,1782681219_A,1782681237_A,1782681286_A,1782681294_A,1782681296_A,1782681316_A,1798860047_A,1798860102_A,1798860191_A,1798860594_A,HGDP00029,HGDP00056,HGDP00070,HGDP00131,HGDP00165,HGDP00237,HGDP00251,HGDP00288,HGDP00356,HGDP00412,HGDP00524,HGDP00604,HGDP00625,HGDP00646,HGDP00747,HGDP00749,HGDP00800,HGDP00805,HGDP00807,HGDP00889,HGDP00890,HGDP01099,HGDP01300,HGDP01350,HGDP01400,NINDS_12,NINDS_127,NINDS_129,NINDS_130,NINDS_139,NINDS_169,NINDS_172,NINDS_173,NINDS_232,NINDS_241,NINDS_259,NINDS_34,NINDS_43,NINDS_53,NINDS_57,NINDS_64,NINDS_69,NINDS_71,NINDS_73,NINDS_79,NINDS_84,NINDS_93 dgv608n27 3 65171163 65190844 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460692,nsv460693 M 1557 0 2 "" HGDP00882,HGDP00901 nsv437863 3 65173579 65187319 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471280,nssv471278,nssv471275,nssv471276,nssv471274,nssv471277,nssv471281,nssv471273 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA07048,NA07055,NA10835,NA10857,NA12043,NA12248 nsv526866 3 65226351 65229767 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703224 S 2026 1 0 "" esv1474872 3 65269312 65269362 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834322 S 2 0 1 "" HuRef nsv876902 3 65389091 65519292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555490 S 6533 0 1 MAGI1 MS21397 nsv526343 3 65476689 65511169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702635 S 2026 0 1 MAGI1 nsv460696 3 65490653 65527054 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537233 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAGI1 HGDP00644 nsv526223 3 65505873 65519292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702489 S 2026 0 1 MAGI1 nsv3856 3 65515400 65532559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7820 S 9 1 0 MAGI1 NA12156 esv992084 3 65570699 65570699 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569826 S 3 1 0 MAGI1 HuRef esv1335536 3 65570700 65570700 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087172 S 2 1 0 MAGI1 HuRef nsv876903 3 65599769 65649762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548606 S 6533 1 0 MAGI1 MS17878 dgv5155n71 3 65618513 65679524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876904,nsv876905 M 6533 0 2 MAGI1 IS38037,IS41842 nsv3857 3 65676663 65707174 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2398 S 9 1 0 MAGI1 NA18555 nsv876906 3 65700843 65829218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545307 S 6533 0 1 MAGI1 MS16709 esv29286 3 65777439 65778042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13796 S 451 0 1 MAGI1 NA18861 esv2562385 3 65815945 65816907 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180046 S 1 1 0 MAGI1 NA18507 nsv507099 3 65819162 65825162 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621703 S 4 1 0 MAGI1 NA10860 nsv460697 3 65821965 65898780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537234 S 1557 0 1 MAGI1 1780862161_A nsv507100 3 65855031 65861031 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621704,nssv622855,nssv617602 M 4 3 0 MAGI1 CHM,NA10860,NA18994 esv2302597 3 65895149 65895593 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969745 S 1 0 1 MAGI1 NA18507 dgv5156n71 3 65898780 66429524 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876910,nsv876907 M 6533 2 0 MAGI1,SLC25A26 IS31218,IS39243 nsv3858 3 65899696 65929912 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3170 S 9 0 1 MAGI1 NA12878 esv2202487 3 65911526 65911929 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613260 S 1 0 1 MAGI1 NA18507 dgv5157n71 3 65936999 65956912 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876909,nsv876908 M 6533 2 0 MAGI1 SP51025,SP52378 nsv522932 3 65965830 65967317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698595 S 2026 0 1 MAGI1 nsv237683 3 66024301 66024614 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256261 M 24 "" esv260039 3 66034916 66035719 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396714,essv2394727,essv2398534,essv2400597,essv2398994,essv2396835 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA18498,NA18562,NA18576,NA18605,NA18638 esv2464976 3 66065568 66066617 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205303 S 1 1 0 "" NA18507 esv270199 3 66066027 66066357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517541,essv2515380,essv2518569,essv2514908,essv2516554,essv2519085 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12249,NA12287,NA12812,NA12814,NA19141 nsv528820 3 66408992 66461689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705494 S 2026 0 1 SLC25A26 esv2605299 3 66418584 66418994 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223769 S 1 1 0 SLC25A26 NA18507 nsv516847 3 66510972 66520646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684736,nssv654408 M 2026 0 2 LRIG1,SLC25A26 nsv237304 3 66516781 66516831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255882 M 24 LRIG1 esv23340 3 66632815 66634681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17073 S 451 0 3 LRIG1 NA11995,NA12156,NA12489 nsv876912 3 66797733 66919320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553067 S 6533 0 1 "" MS19721 nsv822118 3 66808878 66809413 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436487 S 31 0 1 "" NA18542 nsv236600 3 66809236 66809236 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255178 M 24 "" esv271984 3 66812177 66812276 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504139,essv2500445,essv2497359,essv2497827,essv2508306,essv2508188,essv2510063,essv2507487,essv2504904,essv2512300,essv2503732,essv2505648,essv2510409 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18537,NA18545,NA18555,NA18561,NA18579,NA18593,NA18638,NA18942,NA18949,NA18960,NA19005,NA19172 esv2156496 3 66845763 66846186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608697 S 1 0 1 "" NA18507 esv5998 3 66846448 66846505 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28439 S 1 1 0 "" SJK esv2752013 3 66889884 66966800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984807,essv6984808,essv6987689 M 771 1 0 "" SPC_180 nsv460699 3 66999473 67023104 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537235 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01163 esv1137210 3 67007368 67007538 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845932 S 2 0 1 "" HuRef esv1524642 3 67007618 67007834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844835 S 2 0 1 "" HuRef nsv526867 3 67014078 67023104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703225 S 2026 0 1 "" esv273086 3 67034270 67034603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580620 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271404 3 67034306 67034650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548591,essv2530687,essv2571336 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12873,NA19238 esv1019863 3 67048647 67048647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667179 S 2 1 0 "" HuRef nsv508220 3 67133916 67142258 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620208 S 4 0 1 KBTBD8 NA15510 nsv876913 3 67178368 67259464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600660 S 6533 0 1 "" IS41909 nsv876914 3 67279910 67355142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596560 S 6533 1 0 "" IS40568 dgv5158n71 3 67279910 67419642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876915,nsv876918,nsv876917,nsv876916 M 6533 4 0 MIR4272 IS31649,IS35076,IS40374,IS41956 dgv5159n71 3 67331423 67419642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876919,nsv876920 M 6533 3 0 MIR4272 IS31385,IS34786,IS35300 nsv876921 3 67359346 67419642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593488 S 6533 1 0 "" IS39418 nsv470638 3 67450031 67897428 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547479 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SUCLG2 HGDP00649 nsv3859 3 67454723 67486094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5971 S 9 1 0 "" NA19129 nsv460700 3 67476319 67795660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537236 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SUCLG2 HGDP00649 nsv834719 3 67479316 67672542 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442860 S 95 1 0 SUCLG2 nsv519439 3 67533261 67534733 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696855 S 2026 0 1 SUCLG2 nsv508221 3 67569930 67592119 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617475,nssv622460 M 4 0 2 SUCLG2 CHM,NA18994 esv2479752 3 67575927 67580389 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387056 S 1 0 1 SUCLG2 NA18507 nsv3860 3 67575976 67600631 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3171 S 9 0 1 SUCLG2 NA12878 nsv435769 3 67576111 67581250 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466004 S 2 0 1 SUCLG2 NA15510 esv2201325 3 67576200 67579673 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981372 S 1 0 1 SUCLG2 NA18507 esv1009299 3 67576305 67579539 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564915 S 3 0 1 SUCLG2 HuRef nsv513049 3 67576319 67579934 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626533 S 1 0 1 SUCLG2 1 esv8929 3 67576335 67579496 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31370 S 1 0 1 SUCLG2 SJK esv1366353 3 67576398 67579502 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823346 S 2 0 1 SUCLG2 HuRef esv8455 3 67639943 67640022 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30896 S 1 1 0 SUCLG2 SJK esv27977 3 67644861 67646312 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21281 S 451 0 4 SUCLG2 NA18502,NA18505,NA18907,NA19147 esv274522 3 67653128 67653234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580256,essv2580376 M 7 2 0 Samples from several populations that are part of the HapMap project. SUCLG2 NA12878,NA12891 nsv508222 3 67687578 67695863 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620209 S 4 0 1 SUCLG2 NA15510 esv275108 3 67716110 67723596 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585889,essv2585269 M 1250 1 1 SUCLG2 nsv876922 3 67718196 67837947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558811,nssv1577217 M 6533 0 2 SUCLG2 IS34393,MS23550 esv273714 3 67772584 67772909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583947,essv2583443 M 7 2 0 Samples from several populations that are part of the HapMap project. SUCLG2 NA19238,NA19240 esv270627 3 67817787 67817872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513917 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv2627512 3 67914768 67916311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281385 S 1 0 1 "" NA18507 esv2164578 3 67915123 67915820 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944576 S 1 0 1 "" NA18507 nsv834720 3 67935857 68119891 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442861 S 95 1 0 "" nsv507101 3 68014775 68020775 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620762,nssv622856,nssv621705,nssv617603 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv876923 3 68020779 68099023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589580 S 6533 0 1 "" IS38386 nsv876924 3 68061057 68145949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547626 S 6533 0 1 FAM19A1 MS17501 nsv512804 3 68092138 68092290 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625438 S 1 1 0 "" 1 esv2602926 3 68092166 68092395 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305981 S 1 1 0 "" NA18507 esv999186 3 68149672 68164209 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563517 S 3 1 0 FAM19A1 HuRef nsv3861 3 68161947 68215200 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7821,nssv306 M 9 2 0 FAM19A1 NA12156,NA19240 nsv437864 3 68173501 68175525 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471282,nssv471283 M 269 0 2 Samples from several populations that are part of the HapMap project. FAM19A1 NA18940,NA18967 esv2752014 3 68174569 68499679 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980740,essv6980741,essv6990521,essv6986061 M 771 1 0 FAM19A1 BEC_126 esv2434953 3 68259054 68260130 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242266 S 1 1 0 FAM19A1 NA18507 nsv876925 3 68263112 68371316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516873 S 6533 0 1 FAM19A1 SP56965 nsv876926 3 68287629 68365219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548607 S 6533 1 0 FAM19A1 MS17878 nsv822119 3 68344607 68345891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425638 S 31 0 1 FAM19A1 AK4 esv22648 3 68419388 68420202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11078 S 451 0 3 FAM19A1 NA11993,NA11995,NA18861 nsv834721 3 68448653 68609084 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442862 S 95 1 0 FAM19A1 esv1736654 3 68550316 68550367 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799965 S 2 0 1 FAM19A1 HuRef nsv876927 3 68588088 68627132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555896 S 6533 0 1 FAM19A1 MS21706 nsv876928 3 68588088 68633862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548608 S 6533 1 0 FAM19A1 MS17878 nsv876929 3 68590827 68648514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600362 S 6533 0 1 FAM19A1 IS41874 nsv508223 3 68686320 68728045 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617476,nssv620210,nssv622461 M 4 0 3 "" CHM,NA15510,NA18994 nsv3862 3 68690702 68736253 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10347,nssv5972,nssv2399,nssv3172 M 9 0 4 "" NA12878,NA18555,NA18956,NA19129 nsv819515 3 68712135 68724293 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418628 S 2 0 1 "" AK1 nsv822121 3 68712148 68723027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425336 S 31 0 1 "" NA18947 esv2620907 3 68713087 68724719 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341539 S 1 0 1 "" NA18507 esv22336 3 68714679 68722940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11023,esv11946 M 451 0 17 "" NA06985,NA07037,NA11931,NA12239,NA12287,NA12414,NA12489,NA12749,NA12878,NA15510,NA18505,NA18523,NA18858,NA18909,NA18916,NA19108,NA19257 esv994775 3 68715687 68725589 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564302 S 3 0 1 "" HuRef dgv78n16 3 68716453 68723738 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436363,nsv435758 M 2 0 2 "" NA15510,NA18505 esv2447600 3 68716778 68723447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260338 S 1 0 1 "" NA18507 esv2394468 3 68717283 68723112 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828891 S 1 0 1 "" NA18507 nsv513050 3 68717381 68722971 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626534 S 1 0 1 "" 1 nsv499003 3 68717460 68722947 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585864 S 9 0 1 "" dgv810n67 3 68718920 68723027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822124,nsv822123,nsv822122,nsv822125 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv511201 3 68718997 68725422 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626565 S 1 0 1 "" 1 nsv514154 3 68719296 68722888 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627588 S 1414 0 1 "" nsv3863 3 68803611 68851754 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5973,nssv3173,nssv10348,nssv9620,nssv11062,nssv307,nssv2400 M 9 0 7 "" NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508224 3 68807218 68845666 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620211,nssv622462,nssv617477,nssv618713 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv236 3 68816561 68840034 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv236 S 1 0 1 "" NA15510 nsv10279 3 68818894 68831609 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28882,nssv12128,nssv11699,nssv11892,nssv29101,nssv28709,nssv28973,nssv28430,nssv28954,nssv28190,nssv28903,nssv28872,nssv12021,nssv29190,nssv29211,nssv28588 M 31 4 12 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA11830,NA12155,NA12802,NA12872,NA18502,NA18537,NA18552,NA18572,NA18853,NA18860,NA18975,NA18980,NA19007,NA19173 nsv819385 3 68821476 68830710 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418568 S 2 0 1 "" AK1 esv1011180 3 68821630 68831715 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563949 S 3 0 1 "" HuRef dgv33n50 3 68821715 68831357 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513051,nsv511214 M 1 0 1 "" 1 esv2432036 3 68821793 68831205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327845 S 1 0 1 "" NA18507 dgv811n67 3 68822137 68830557 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822128,nsv822130,nsv822129,nsv822127,nsv822126 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821161 3 68822137 68830557 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420322 S 1 0 1 "" NA10851 dgv22e194 3 68822185 68830727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2154809,esv2166969 M 1 0 1 "" NA18507 esv24840 3 68822189 68830557 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13332 S 451 6 11 "" NA06985,NA07037,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18907,NA19257 esv3983 3 68822221 68830686 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26424 S 1 0 1 Single Asian sample YH "" YH dgv79n16 3 68822232 68831769 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435754,nsv436359 M 2 0 2 "" NA15510,NA18505 esv2536446 3 68822349 68831292 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272521 S 1 0 1 "" NA18507 esv8201 3 68822367 68830553 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30642 S 1 0 1 "" SJK dgv39n47 3 68822378 68830556 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499005,nsv499004 M 9 0 2 "" nsv514155 3 68822928 68826864 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627589 S 1414 0 1 "" nsv834722 3 68857726 69056810 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442864 S 95 1 0 FAM19A4 esv270165 3 68912994 68913238 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511829,essv2493168,essv2500383,essv2512973,essv2497200,essv2508226,essv2504494,essv2506395,essv2511310,essv2507638,essv2501566,essv2512839,essv2511638,essv2503068,essv2497861,essv2505441,essv2497374,essv2495114,essv2502648,essv2512771,essv2499554 M 157 21 0 Samples from several populations that are part of the HapMap project. FAM19A4 NA07357,NA18499,NA18504,NA18537,NA18547,NA18552,NA18561,NA18563,NA18566,NA18570,NA18576,NA18608,NA18609,NA18940,NA18943,NA18945,NA18952,NA18959,NA18964,NA18965,NA18980 dgv5160n71 3 68926903 69043700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876930,nsv876932,nsv876931 M 6533 0 3 FAM19A4 IS36315,IS40762,IS41192 esv2504953 3 68952257 68954046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168331 S 1 0 1 FAM19A4 NA18507 esv2141895 3 68952985 68953654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575308 S 1 0 1 FAM19A4 NA18507 esv3358 3 68953081 68953605 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25799 S 1 0 1 Single Asian sample YH FAM19A4 YH esv989471 3 68953166 68953454 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582841 S 3 0 1 FAM19A4 HuRef esv1734354 3 68953180 68953469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915825 S 2 0 1 FAM19A4 HuRef esv8699 3 68953197 68953467 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31140 S 1 0 1 FAM19A4 SJK dgv1467e1 3 68971420 69018486 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1076,essv14207,essv13509 M 271 0 0 FAM19A4 NA18913,NA18914 nsv236602 3 68972906 68973196 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255180 M 24 FAM19A4 nsv525701 3 68985771 69008468 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701861 S 2026 1 0 FAM19A4 esv1011141 3 69054132 69057044 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564941 S 3 1 0 FAM19A4 HuRef nsv876933 3 69141713 69310069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574923 S 6533 0 1 ARL6IP5,C3orf64,FRMD4B,LMOD3,MIR3136,TMF1,UBA3 IS33669 nsv237873 3 69143048 69147048 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256451 M 24 C3orf64 nsv520488 3 69187442 69196695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687300,nssv671813 M 2026 0 2 UBA3 nsv876934 3 69194202 69249585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548609 S 6533 1 0 ARL6IP5,LMOD3,UBA3 MS17878 nsv521439 3 69254493 69268430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698049 S 2026 0 1 "" esv21977 3 69262612 69264230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19992 S 451 0 2 "" NA15510,NA18508 nsv822132 3 69263179 69264134 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431955,nssv1432736,nssv1438940,nssv1436490,nssv1429700,nssv1438065,nssv1428168,nssv1425360 M 31 0 8 "" AK10,AK14,AK20,NA18542,NA18547,NA18947,NA18951,NA18972 nsv237526 3 69347152 69348270 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256104 M 24 FRMD4B nsv876935 3 69390632 69483938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548610 S 6533 1 0 FRMD4B MS17878 nsv3864 3 69406565 69441936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv308 S 9 1 0 FRMD4B NA19240 esv269141 3 69425248 69425586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517903,essv2517342 M 157 2 0 Samples from several populations that are part of the HapMap project. FRMD4B NA12872,NA18970 nsv520818 3 69483938 69504185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697629 S 2026 0 1 FRMD4B esv1946491 3 69499227 69499619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555005 S 1 0 1 FRMD4B NA18507 nsv237596 3 69499343 69499392 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256174 M 24 FRMD4B esv1002559 3 69499355 69499404 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585814 S 3 0 1 FRMD4B HuRef esv1435155 3 69499434 69499484 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926263 S 2 0 1 FRMD4B HuRef nsv237604 3 69499442 69499491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256182 M 24 FRMD4B nsv834723 3 69726331 69894291 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442865 S 95 1 0 MITF nsv237409 3 69925335 69925335 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255987 M 24 MITF esv29670 3 69956425 69956894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13809 S 451 0 1 MITF NA19114 esv25567 3 69963869 69966735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19391,esv21050 M 451 0 3 MITF NA11931,NA12156,NA18907 esv2491017 3 70095363 70097084 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363485 S 1 0 1 MITF NA18507 esv2312935 3 70095988 70096766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945095 S 1 0 1 MITF NA18507 esv5323 3 70096123 70096640 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27764 S 1 0 1 Single Asian sample YH MITF YH esv7835 3 70096151 70096658 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30276 S 1 0 1 MITF SJK esv2567159 3 70096167 70096579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372452 S 1 0 1 MITF NA18507 nsv507102 3 70146719 70152719 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621706,nssv617604,nssv620763 M 4 3 0 "" CHM,NA10860,NA15510 nsv437334 3 70273498 70276298 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467215 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19139 nsv834725 3 70282361 70478474 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442866 S 95 1 0 "" nsv822133 3 70283531 70284020 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434321 S 31 1 0 "" NA18570 nsv834726 3 70362580 70546932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442867 S 95 1 0 "" nsv507103 3 70379354 70385354 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617605,nssv621707,nssv620764,nssv622857 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv876936 3 70387228 70435179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552327 S 6533 1 0 "" MS19341 esv270494 3 70406116 70406429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504001 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv3865 3 70409598 70454799 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7822 S 9 0 1 "" NA12156 esv1536310 3 70468898 70468961 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638934 S 2 0 1 "" HuRef nsv527225 3 70488165 70509757 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703625 S 2026 0 1 "" esv1949460 3 70497612 70498337 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994537 S 1 0 1 "" NA18507 esv7908 3 70497799 70498136 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30349 S 1 0 1 "" SJK esv1646191 3 70497811 70498146 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178101 S 2 0 1 "" HuRef nsv3867 3 70563048 70608087 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7823 S 9 0 1 "" NA12156 nsv523369 3 70690895 70699427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699118 S 2026 0 1 "" nsv3868 3 70834044 70858771 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10349,nssv3098 M 9 2 0 "" NA18555,NA18956 nsv876937 3 70851966 70965867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520230 S 6533 0 1 "" SP50756 nsv3869 3 70966648 70985784 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7824 S 9 0 1 "" NA12156 nsv834727 3 71015949 71190722 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442868 S 95 0 1 FOXP1 nsv3870 3 71022925 71055448 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10350 S 9 1 0 "" NA18956 esv2577296 3 71070061 71071620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234724 S 1 0 1 "" NA18507 nsv834728 3 71167286 71364374 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442869 S 95 0 1 FOXP1 nsv523960 3 71228520 71235800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699810 S 2026 0 1 FOXP1 nsv876938 3 71238070 71328918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548611 S 6533 1 0 FOXP1 MS17878 esv269572 3 71271356 71271716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496596,essv2510720,essv2504188,essv2496209,essv2507055,essv2513285,essv2501222,essv2509565 M 157 8 0 Samples from several populations that are part of the HapMap project. FOXP1 NA18486,NA18501,NA18505,NA18511,NA18870,NA18907,NA19093,NA19129 esv269896 3 71282559 71282845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508301,essv2511091 M 157 2 0 Samples from several populations that are part of the HapMap project. FOXP1 NA18561,NA18944 esv2534232 3 71324572 71325980 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350024 S 1 0 1 FOXP1 NA18507 nsv524874 3 71349575 71353478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700879 S 2026 0 1 FOXP1 nsv525539 3 71349575 71356534 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701675 S 2026 1 0 FOXP1 nsv525748 3 71399279 71404917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701915 S 2026 0 1 FOXP1 esv1025789 3 71459159 71459159 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991309 S 2 1 0 FOXP1 HuRef nsv237399 3 71459160 71459160 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255977 M 24 FOXP1 esv272787 3 71528262 71528711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580650 S 7 1 0 Samples from several populations that are part of the HapMap project. FOXP1 NA19238 esv267511 3 71528487 71528676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510693,essv2508982,essv2505918,essv2513383,essv2501339,essv2499205,essv2493525,essv2498915,essv2499630,essv2512031,essv2498174 M 157 11 0 Samples from several populations that are part of the HapMap project. FOXP1 NA18501,NA18522,NA18861,NA18907,NA19093,NA19114,NA19137,NA19138,NA19225,NA19238,NA19240 esv271259 3 71543971 71544090 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505340,essv2499128 M 157 2 0 Samples from several populations that are part of the HapMap project. FOXP1 NA18853,NA19114 nsv508932 3 71550283 71574714 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619331,nssv621208,nssv623374 M 4 3 0 FOXP1 NA10860,NA15510,NA18994 esv995297 3 71566533 71567794 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564664 S 3 1 0 FOXP1 HuRef nsv3871 3 71600121 71645527 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7012 S 9 0 1 FOXP1 NA12156 esv2577699 3 71670580 71671651 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378065 S 1 1 0 FOXP1 NA18507 esv1199783 3 71671077 71671077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617150 S 2 1 0 FOXP1 HuRef nsv3872 3 71690692 71724713 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3174 S 9 1 0 FOXP1 NA12878 esv24809 3 71713365 71715728 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17896 S 451 0 1 FOXP1 NA12156 esv275502 3 71739618 71748048 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585658,essv2585720 M 1250 1 1 "" nsv834729 3 71749193 71826832 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442870,nssv1442871 M 95 0 2 EIF4E3 esv6263 3 71849174 71849265 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28704 S 1 1 0 EIF4E3 SJK esv25003 3 71856848 71857477 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16544 S 451 0 1 EIF4E3 NA12489 nsv524847 3 71877097 71904180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700849 S 2026 0 1 EIF4E3,GPR27,PROK2 esv28633 3 71884865 71887146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19554,esv18777,esv18959 M 451 0 6 EIF4E3,GPR27 NA11993,NA11995,NA12156,NA12489,NA12749,NA19190 nsv460702 3 71988566 72012953 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537237 S 1557 0 1 "" 1780854557_A nsv876939 3 71988841 72043967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548612 S 6533 1 0 "" MS17878 nsv876940 3 72088125 72137916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548613 S 6533 1 0 "" MS17878 esv2573774 3 72168909 72169557 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219907 S 1 1 0 "" NA18507 nsv512805 3 72169294 72169641 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625439 S 1 1 0 "" 1 esv270405 3 72176391 72176711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509942,essv2501079 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18516 esv1274538 3 72177459 72177516 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3868543 S 2 0 1 "" HuRef esv1725824 3 72206338 72206504 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937113 S 2 0 1 "" HuRef nsv876941 3 72307438 72331290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518042 S 6533 0 1 "" SP57449 esv2615969 3 72342706 72343523 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270879 S 1 1 0 "" NA18507 esv1595442 3 72343166 72343166 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341435 S 2 1 0 "" HuRef nsv876942 3 72361499 72412027 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548614 S 6533 1 0 "" MS17878 nsv523699 3 72398646 72400160 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699506 S 2026 0 1 "" esv275457 3 72430169 72436013 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585241,essv2585781 M 1250 1 1 "" nsv526437 3 72454215 72461423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702740 S 2026 0 1 "" nsv515782 3 72459498 72461640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664760,nssv670858,nssv701232 M 2026 0 3 "" esv5038 3 72462335 72462825 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27479 S 1 0 1 Single Asian sample YH "" YH dgv118n6 3 72462401 72462712 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237827,nsv237576 M 24 "" esv2433275 3 72469254 72469553 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257814 S 1 1 0 "" NA18507 esv267750 3 72537620 72537832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504120,essv2501216,essv2508984,essv2506083,essv2505843,essv2494030,essv2509148,essv2495586,essv2498817 M 157 9 0 Samples from several populations that are part of the HapMap project. RYBP NA18505,NA18516,NA18522,NA18523,NA18861,NA18871,NA18909,NA18916,NA19138 esv990953 3 72562943 72563039 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569012 S 3 0 1 RYBP HuRef esv1338763 3 72562945 72563042 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194344 S 2 0 1 RYBP HuRef esv26999 3 72578942 72579402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14883 S 451 0 1 "" NA12489 nsv876943 3 72602294 72717457 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548615 S 6533 1 0 "" MS17878 nsv441827 3 72651057 72655335 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2410872 3 72661845 72662334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579475 S 1 0 1 "" NA18507 nsv822134 3 72821025 72822067 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438066 S 31 0 1 "" NA18951 esv28177 3 72862677 72868750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21325 S 451 0 3 "" NA12004,NA12749,NA19108 nsv3873 3 72930814 72975743 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7826 S 9 0 1 SHQ1 NA12156 nsv523229 3 72963160 73014098 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698952 S 2026 0 1 SHQ1 nsv3874 3 72965725 72999817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3099 S 9 1 0 SHQ1 NA18555 nsv3875 3 73044008 73088691 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7827 S 9 0 1 GXYLT2 NA12156 nsv513052 3 73144356 73147813 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626536 S 1 0 1 PPP4R2 1 nsv238064 3 73150294 73150294 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256642 M 24 PPP4R2 nsv528982 3 73174137 73214041 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705681 S 2026 1 0 EBLN2,PPP4R2 nsv460703 3 73177645 73226780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537238 S 1557 0 1 EBLN2,PPP4R2 1780862565_A esv2148834 3 73256710 73257142 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700934 S 1 0 1 "" NA18507 esv2507948 3 73256893 73256970 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213107 S 1 0 1 "" NA18507 esv2045205 3 73290921 73291335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588345 S 1 0 1 "" NA18507 nsv876944 3 73318163 73347475 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548616 S 6533 1 0 "" MS17878 nsv3876 3 73419551 73464565 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5974 S 9 0 1 "" NA19129 esv29412 3 73449055 73450395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12793,esv13018 M 451 2 0 "" NA18909,NA19108 dgv5161n71 3 73458986 73508536 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876945,nsv876946 M 6533 2 0 "" MS17878,MS18598 nsv834730 3 73471190 73640283 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442872,nssv1442873 M 95 0 2 PDZRN3 nsv834731 3 73561124 73736485 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442875 S 95 1 0 PDZRN3 nsv520326 3 73571360 73572601 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694375 S 2026 0 1 PDZRN3 nsv876947 3 73592603 73666168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553068 S 6533 0 1 PDZRN3 MS19721 esv274403 3 73603861 73604049 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580089,essv2579874 M 7 2 0 Samples from several populations that are part of the HapMap project. PDZRN3 NA12878,NA12892 nsv525749 3 73613013 73618281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701916 S 2026 0 1 PDZRN3 nsv236186 3 73623447 73624825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254764 M 24 PDZRN3 nsv3878 3 73656696 73688889 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3175 S 9 1 0 PDZRN3 NA12878 nsv876948 3 73670913 73810305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594398 S 6533 1 0 PDZRN3 IS39832 nsv526832 3 73695639 74864440 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703189 S 2026 1 0 CNTN3,PDZRN3 nsv876949 3 73744034 73863648 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529023 S 6533 1 0 PDZRN3 SP81422 esv24230 3 73755682 73757503 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12244 S 451 0 1 PDZRN3 NA11995 nsv3879 3 73789448 73826113 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7828 S 9 0 1 "" NA12156 nsv876950 3 73845979 73891284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548618 S 6533 1 0 "" MS17878 nsv834732 3 73854958 74025996 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442876 S 95 1 0 "" nsv876951 3 73899427 74602074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594399 S 6533 1 0 CNTN3 IS39832 dgv5162n71 3 73912605 74098459 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876953,nsv876952 M 6533 2 0 "" MS17878,SP81422 nsv527044 3 73935508 73937361 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703420 S 2026 1 0 "" nsv237826 3 73988912 73988964 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256404 M 24 "" dgv291n21 3 74044215 74050975 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526351,nsv519684 M 2026 2 0 "" nsv527242 3 74064463 74065597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703644 S 2026 0 1 "" nsv876954 3 74111952 74570462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529025 S 6533 1 0 CNTN3 SP81422 nsv822135 3 74182577 74183016 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431956 S 31 1 0 "" AK20 nsv834733 3 74229979 74449437 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442879,nssv1442878,nssv1442880,nssv1442877 M 95 0 4 CNTN3 nsv436373 3 74229997 74237786 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466010 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv23487 3 74230273 74237051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9929 S 451 0 1 "" NA18505 nsv514156 3 74230824 74234552 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627590 S 1414 0 1 "" esv2421880 3 74230849 74234561 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070632,essv5001929,essv5118052,essv5037399,essv5050707,essv5080734,essv5108864,essv5097871,essv5137431,essv5012282,essv5006158,essv5116641,essv5068032,essv5087632,essv5136100,essv5051464,essv5098427,essv5021388,essv5017128,essv5086679,essv5047377,essv5106659,essv5127022,essv5114707,essv5156299,essv5004106,essv5101521,essv5135272,essv5082796,essv5010060,essv5052917,essv5027158 M 1184 0 32 "" NA18505,NA18870,NA18872,NA18913,NA18914,NA18933,NA18935,NA19028,NA19038,NA19041,NA19102,NA19103,NA19137,NA19160,NA19172,NA19189,NA19191,NA19317,NA19398,NA19440,NA19451,NA19452,NA19908,NA20340,NA20341,NA20350,NA21435,NA21611,NA21685,NA21717,NA21718,NA21825 nsv441828 3 74230849 74234561 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516154 3 74233758 74236974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678816,nssv666522 M 2026 0 2 "" nsv3880 3 74277771 74322823 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7829 S 9 0 1 "" NA12156 nsv520967 3 74280502 74285655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705201,nssv693152,nssv678950 M 2026 0 3 "" nsv236767 3 74298070 74298070 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255345 M 24 "" esv1255374 3 74298133 74298133 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816379 S 2 1 0 "" HuRef esv274188 3 74338080 74338400 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581760,essv2582600 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv270133 3 74338084 74338341 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545328,essv2561922,essv2537388,essv2528376,essv2562726,essv2527226,essv2542711,essv2524736,essv2561172,essv2549450,essv2567864,essv2570233,essv2533629,essv2527615,essv2531440,essv2573278,essv2568428,essv2537859,essv2548665,essv2557899 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10851,NA12003,NA12874,NA12878,NA12891,NA18507,NA18522,NA18550,NA18555,NA18562,NA18564,NA18577,NA18593,NA18944,NA18952,NA18961,NA18969,NA19147 nsv834734 3 74502838 74637825 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442881 S 95 0 1 CNTN3 nsv526012 3 74504266 74507007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702240 S 2026 0 1 CNTN3 esv268494 3 74537172 74537522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575144,essv2560773,essv2572629,essv2560446,essv2545792,essv2574079,essv2551585 M 157 7 0 Samples from several populations that are part of the HapMap project. CNTN3 NA19102,NA19116,NA19143,NA19190,NA19239,NA19240,NA19257 esv273937 3 74537183 74537525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584648,essv2583732 M 7 2 0 Samples from several populations that are part of the HapMap project. CNTN3 NA19239,NA19240 esv273318 3 74652008 74652360 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580766,essv2579567 M 7 2 0 Samples from several populations that are part of the HapMap project. CNTN3 NA19238,NA19240 nsv876955 3 74700978 74738599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514551 S 6533 0 1 "" SP56013 nsv527913 3 74707813 74717787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704419 S 2026 0 1 "" nsv516665 3 74711925 74717787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670012,nssv661370,nssv662150 M 2026 0 3 "" dgv5163n71 3 74738599 74964975 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876957,nsv876956 M 6533 0 2 "" IS40902,MS19303 nsv876958 3 74781680 74855022 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577415 S 6533 0 1 "" IS34440 esv1005894 3 74791686 74791811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585373 S 3 0 1 "" HuRef esv1401058 3 74791815 74791941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218985 S 2 0 1 "" HuRef esv2577370 3 74847537 74849092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299773 S 1 0 1 "" NA18507 esv1941361 3 74847922 74848628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659298 S 1 0 1 "" NA18507 esv1241366 3 74848116 74848439 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680269 S 2 0 1 "" HuRef esv2344179 3 74872372 74872861 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986213 S 1 0 1 "" NA18507 esv1412904 3 74872575 74872650 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236152 S 2 0 1 "" HuRef esv22800 3 74890577 74895622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13227 S 451 0 1 "" NA18909 nsv3881 3 74897554 74927892 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3176 S 9 1 0 "" NA12878 esv269236 3 75027505 75027828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503365,essv2506374,essv2508115,essv2508406,essv2496138,essv2504976,essv2503704,essv2495044 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA18542,NA18566,NA18579,NA18582,NA18603,NA18942,NA18960 nsv876959 3 75072673 75159130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574345 S 6533 0 1 "" IS33545 nsv876960 3 75093965 75132816 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548620 S 6533 1 0 "" MS17878 nsv834736 3 75165745 75354148 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442882 S 95 1 0 "" esv273481 3 75183865 75184136 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579303 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271636 3 75183894 75184178 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525865,essv2542322,essv2556796,essv2523240,essv2532029,essv2577623,essv2570744,essv2576747,essv2550710,essv2535419,essv2520346,essv2558479,essv2564210,essv2539973,essv2557577,essv2557014,essv2551837,essv2578529,essv2558883,essv2539192,essv2569657,essv2541452,essv2524742,essv2534588,essv2539907,essv2549460,essv2519654,essv2560072,essv2522250,essv2566269,essv2531105,essv2532646,essv2528660,essv2567294,essv2541700,essv2570113,essv2563600,essv2535526,essv2559191,essv2566811,essv2567203,essv2566457,essv2530174,essv2573824,essv2527589,essv2557662,essv2555849,essv2522436,essv2531411,essv2573363,essv2572079,essv2525738,essv2527009,essv2575542,essv2575337,essv2538638,essv2526639,essv2524080,essv2574630,essv2572868,essv2548065,essv2549630,essv2571348,essv2551413,essv2536233,essv2548804,essv2533013,essv2554557,essv2524904,essv2563386 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07357,NA10847,NA11918,NA11919,NA11994,NA12004,NA12006,NA12043,NA12044,NA12154,NA12155,NA12249,NA12716,NA12750,NA12828,NA18489,NA18499,NA18501,NA18504,NA18510,NA18516,NA18519,NA18520,NA18545,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18638,NA18853,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18961,NA18964,NA18973,NA18980,NA19005,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19143,NA19210,NA19225,NA19238,NA19257 nsv822136 3 75187923 75193903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422503 S 31 0 1 "" NA18552 dgv5164n71 3 75276163 75413692 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876963,nsv876961 M 6533 2 0 "" IS40415,SP54559 nsv876962 3 75281594 75623234 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527694,nssv1526334 M 6533 2 0 FAM86DP SP57174,SP80938 nsv876964 3 75285237 75520579 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513713 S 6533 1 0 "" SP55834 nsv876965 3 75305627 75377107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577601 S 6533 1 0 "" IS34492 nsv460704 3 75311063 75404933 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537239 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00160 esv2422240 3 75326969 75678623 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161389 S 181 0 1 FAM86DP ND01708 esv2422315 3 75332778 75935986 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161481 S 181 0 1 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 ND00723 esv2214068 3 75359391 75361796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825364 S 1 0 1 "" NA18507 esv9110 3 75359573 75361604 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31551 S 1 0 1 "" SJK dgv1468e1 3 75428849 75779859 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24203,essv24549,essv19813,essv19588,essv24012 M 271 0 0 FAM86DP,MIR1324 NA11831,NA12144,NA12864,NA12873 esv614 3 75428849 76935064 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 nsv10280 3 75432910 75440394 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28749 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv876966 3 75433581 75572326 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577602 S 6533 1 0 FAM86DP IS34492 dgv5165n71 3 75433581 75654889 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876969,nsv876967 M 6533 2 0 FAM86DP IS40415,MS20947 nsv508933 3 75435172 75568856 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623375,nssv619332,nssv621209 M 4 3 0 FAM86DP NA10860,NA15510,NA18994 nsv876968 3 75444196 75520579 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508550 S 6533 1 0 "" SP54559 nsv529016 3 75444196 75919548 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705727 S 2026 1 0 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 nsv3882 3 75448992 75481371 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10351 S 9 1 0 "" NA18956 nsv517173 3 75461775 75730577 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669282,nssv652403,nssv675888,nssv652803,nssv657210,nssv679764,nssv671784,nssv677854,nssv691312,nssv667661,nssv652370,nssv674956,nssv655912,nssv677561,nssv674613,nssv687565,nssv685648,nssv658754,nssv655888,nssv672683,nssv654261,nssv675734,nssv663970,nssv662111,nssv682629,nssv687673,nssv691610,nssv698829,nssv667689,nssv701350,nssv666289,nssv679504,nssv685228,nssv663192,nssv668278,nssv688126,nssv685380,nssv661637,nssv676301,nssv671418,nssv657025,nssv678259,nssv692635,nssv659923,nssv686566,nssv681023,nssv688074,nssv684134,nssv676665,nssv657349,nssv681814,nssv654137,nssv699147,nssv687852,nssv652480,nssv684975,nssv673452,nssv663801,nssv677794,nssv669692,nssv663048,nssv653983,nssv670590,nssv659371,nssv653927,nssv670890,nssv671325,nssv681535,nssv668135,nssv653313,nssv652077,nssv654184,nssv684785,nssv657168,nssv665018,nssv670785,nssv685745,nssv661476,nssv663903,nssv679925,nssv652222,nssv680656,nssv684152,nssv681260,nssv655775,nssv683227,nssv655830,nssv687755,nssv690483,nssv678330,nssv656128,nssv679666,nssv676016,nssv693837,nssv660693,nssv670696,nssv687728,nssv690959,nssv664614,nssv656263,nssv659178,nssv664532,nssv678912,nssv667920,nssv705296,nssv667713,nssv654828,nssv688345,nssv668958,nssv659278 M 2026 1 109 FAM86DP esv26581 3 75464498 75899889 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16165,esv16459,esv11100,esv17725,esv15976,esv20724,esv13749,esv10554,esv18196 M 451 23 2 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18517,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19257 dgv609n27 3 75470851 75650909 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460709,nsv460708,nsv460710,nsv460705,nsv460711,nsv460712,nsv460707 M 1557 0 7 FAM86DP 1780854483_A,1780854573_A,1798860443_A,1798860565_A,HGDP00902,HGDP01362,NINDS_36 dgv180e55 3 75474768 75722600 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35065,esv2752016 M 771 0 2 FAM86DP BEC_496,NA12864 dgv181e55 3 75475063 75858773 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752017,esv2752018 M 771 0 2 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324 BEC_540,SPC_178 dgv1469e1 3 75475063 76006154 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7885,essv23098 M 271 0 0 FAM86DP,FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 NA12043,NA19140 dgv1470e1 3 75476955 75722584 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20508,essv19331,essv5628 M 271 0 0 FAM86DP NA12716,NA12872,NA18579 dgv5166n71 3 75489835 75679402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876976,nsv876975,nsv876974,nsv876973,nsv876972,nsv876970,nsv876971 M 6533 0 14 FAM86DP IS30668,IS33055,IS34700,IS35331,IS36320,IS37116,IS37159,IS37226,IS38224,IS38491,IS38541,IS38582,IS40658,MS24245 nsv876977 3 75502426 75730431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539898 S 6533 1 0 FAM86DP MS14566 nsv436393 3 75506313 75727285 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466011 S 2 0 1 Samples from several populations that are part of the HapMap project. FAM86DP NA18505 nsv442862 3 75509797 75627866 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM86DP esv2422140 3 75509797 75722584 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019395,essv5085159,essv5009433,essv5020902,essv5112450,essv5095229,essv5008703,essv5081927,essv5018833,essv5047467,essv5040374,essv5036095,essv5133104,essv5089170,essv5054274,essv5056742,essv5012646,essv5059478,essv5148572,essv5067353,essv5062657,essv5105913,essv5148695,essv5052966,essv5012527,essv5150342,essv5082003 M 1184 0 27 FAM86DP NA10837,NA10864,NA11831,NA11894,NA12043,NA12272,NA12273,NA12716,NA12864,NA12872,NA12873,NA18579,NA19779,NA19781,NA19782,NA19784,NA20279,NA20282,NA20356,NA20358,NA20517,NA20525,NA20586,NA20807,NA20845,NA21103,NA21104 nsv818150 3 75511365 75650909 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416616 S 112 0 1 FAM86DP NA12043 nsv469693 3 75520326 75670960 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649625 M 265 0 22 Samples from several populations that are part of the HapMap project. FAM86DP dgv5167n71 3 75520579 75654889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876980,nsv876978 M 6533 0 2 FAM86DP IS35510,IS40834 nsv876979 3 75520579 75654889 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534207,nssv1522062,nssv1573011 M 6533 1 2 FAM86DP IS33219,MS11482,SP52713 nsv3883 3 75523617 75554840 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2401,nssv10352,nssv5975,nssv309,nssv7013,nssv11063,nssv3177 M 9 7 0 FAM86DP NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv10281 3 75531364 75544125 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28470 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 nsv237 3 75543330 75551153 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv237 S 1 1 0 "" NA15510 esv1602828 3 75546048 75546048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875604 S 2 1 0 "" HuRef nsv499479 3 75546048 75546116 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586399 S 9 1 0 "" esv997936 3 75557055 75719496 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586261 S 3 1 0 FAM86DP HuRef nsv818151 3 75588740 75613585 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418257 S 112 1 0 "" NA19093 nsv460713 3 75588740 75650909 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537248 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00525 dgv1471e1 3 75591666 75858773 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15966,essv18483,essv16189 M 271 0 0 FLJ20518,FRG2C,LOC401074,MIR1324 NA12156,NA18506,NA19142 dgv5168n71 3 75600590 75749661 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876982,nsv876981 M 6533 3 0 "" MS10580,MS25304,SP54559 esv271704 3 75616510 75616595 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513910 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 essv16595 3 75621533 75795694 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR1324 NA18860 nsv834737 3 75640941 75844263 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442884,nssv1442883,nssv1442886 M 95 1 2 FLJ20518,FRG2C,LOC401074,MIR1324 esv2502935 3 75646649 75742935 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229754 S 1 0 1 "" NA18507 nsv820667 3 75647561 75698004 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420323 S 1 0 1 "" NA10851 nsv509830 3 75650514 75656514 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622027,nssv623906 M 4 0 2 "" NA10860,NA18994 nsv527783 3 75650909 75731665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704274 S 2026 0 1 "" nsv876983 3 75654889 76107029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513714 S 6533 1 0 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 SP55834 nsv442863 3 75655239 75669495 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv876984 3 75672010 75869130 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526335 S 6533 1 0 FLJ20518,FRG2C,LOC401074,MIR1324,ZNF717 SP57174 dgv1472e1 3 75678008 76006154 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25118,essv13155,essv3989,essv24747,essv19247,essv23879,essv9818,essv17967 M 271 0 0 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 NA10838,NA10856,NA10860,NA12003,NA12814,NA18863,NA18970,NA19102 dgv1473e1 3 75678008 76160982 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8279,essv15136,essv23314,essv9074,essv6007,essv21739,essv18374 M 271 0 0 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 NA12248,NA12249,NA12264,NA18571,NA19103,NA19129,NA19132 nsv442864 3 75695864 75703585 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv18298 3 75698633 75885406 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 NA10846 nsv428418 3 75698633 76056264 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454252,nssv454253 M 62 0 2 FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 HGDP00476,HGDP01093 esv2154675 3 75702932 75703354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956180 S 1 0 1 "" NA18507 nsv822137 3 75709519 75845646 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440967 S 31 1 0 FLJ20518,FRG2C,LOC401074,MIR1324 NA18969 nsv10282 3 75711619 75715157 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11922 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv876985 3 75738735 75809052 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513757 S 6533 1 0 FLJ20518,FRG2C,LOC401074,MIR1324 SP55842 nsv10283 3 75740085 75901422 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28984,nssv28902,nssv29131,nssv29241,nssv11759,nssv11997,nssv28912,nssv11729,nssv12743,nssv28504,nssv29196,nssv29226,nssv28510 M 31 5 7 Samples from several populations that are part of the HapMap project. FLJ20518,FRG2C,LOC401074,MIR1324,MIR4273,ZNF717 NA10839,NA10847,NA11830,NA12740,NA12872,NA18537,NA18972,NA18975,NA18980,NA19132,NA19173 nsv819834 3 75761737 75839337 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418912 S 2 1 0 FLJ20518,FRG2C,LOC401074,MIR1324 AK1 nsv876986 3 75765568 75835451 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508337 S 6533 1 0 FLJ20518,FRG2C,LOC401074 SP54559 nsv876987 3 75765568 75909162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596137 S 6533 1 0 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 IS40415 esv2642288 3 75774803 75784820 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278432 S 1 1 0 "" NA18507 esv8052 3 75781902 75781973 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30493 S 1 1 0 "" SJK esv7428 3 75782375 75782473 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29869 S 1 1 0 "" SJK dgv1474e1 3 75795694 76001559 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5675,essv11090 M 271 0 0 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 NA18605,NA19211 nsv821408 3 75798328 75891948 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420324 S 1 1 0 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 NA10851 nsv822138 3 75798328 75891948 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423280 S 31 1 0 FLJ20518,FRG2C,LOC401074,MIR4273,ZNF717 NA18999 nsv876988 3 75803301 76005745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541785 S 6533 0 1 LOC401074,MIR4273,ZNF717 MS15491 esv2436311 3 75810777 75876478 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170356 S 1 1 0 LOC401074,MIR4273,ZNF717 NA18507 esv1003901 3 75821646 75821755 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571205 S 3 0 1 "" HuRef esv1533368 3 75821649 75821759 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166842 S 2 0 1 "" HuRef esv1985922 3 75844107 75844510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998699 S 1 0 1 "" NA18507 dgv812n67 3 75848273 75876277 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822141,nsv822139,nsv822144,nsv822145 M 31 5 0 MIR4273,ZNF717 AK20,NA18537,NA18566,NA18570,NA18973 nsv822140 3 75848273 75958100 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438067 S 31 0 1 MIR4273,ZNF717 NA18951 nsv237226 3 75848966 75855089 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255804 M 24 "" esv2074383 3 75849804 75850257 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615840 S 1 0 1 "" NA18507 esv33470 3 75853081 75875933 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97587,essv99295,essv99448 M 51 0 3 MIR4273,ZNF717 21616,22275,22335 esv2287422 3 75856647 75857209 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794623 S 1 0 1 "" NA18507 nsv236147 3 75856832 75856982 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254725 M 24 "" nsv509831 3 75860602 75866602 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618575,nssv621554 M 4 0 2 "" CHM,NA15510 esv6838 3 75860697 75861015 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29279 S 1 0 1 "" SJK esv1084609 3 75860984 75860984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931784 S 2 1 0 "" HuRef esv5731 3 75867241 75867330 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28172 S 1 1 0 "" SJK esv1727154 3 75867379 75867379 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033961 S 2 1 0 "" HuRef nsv471427 3 75868719 75916945 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548248,nssv548250,nssv548249 M 3 MIR4273,ZNF717 nsv513053 3 75869749 75871249 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626537 S 1 0 1 MIR4273,ZNF717 1 esv9630 3 75869940 75870424 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32071 S 1 0 1 MIR4273,ZNF717 SJK esv2004829 3 75873358 75873863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729655 S 1 0 1 ZNF717 NA18507 dgv5169n71 3 75883356 76142189 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876990,nsv876991,nsv876989 M 6533 3 0 ZNF717 MS25887,SP57174,SP80938 esv1200496 3 75909074 75909074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212432 S 2 1 0 ZNF717 HuRef esv2241639 3 75910413 75910792 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966796 S 1 0 1 ZNF717 NA18507 dgv5170n71 3 75950641 76159833 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv876993,nsv876992 M 6533 2 0 "" MS12482,SP54559 dgv119n6 3 75951680 75951756 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236838,nsv236446 M 24 "" dgv120n6 3 75963551 75969765 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236130,nsv237311 M 24 "" nsv237275 3 75989536 75989536 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255853 M 24 "" nsv236397 3 75992216 75992457 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254975 M 24 "" nsv876994 3 76018453 76059345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515059 S 6533 0 1 "" SP56119 nsv236559 3 76060618 76060702 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255137 M 24 "" nsv10285 3 76065787 76081723 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28574,nssv28787,nssv29003,nssv29014,nssv12803,nssv12158,nssv11521,nssv28855,nssv28240 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA10847,NA11830,NA12155,NA12802,NA18853,NA18972,NA19007,NA19144,NA19240 nsv821262 3 76066152 76081368 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420326 S 1 1 0 "" NA10851 esv26931 3 76068070 76081368 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17749 S 451 1 1 "" NA07037,NA12156 esv259477 3 76097200 76097527 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393731,essv2394020,essv2394391 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1222812 3 76097319 76097319 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645886 S 2 1 0 "" HuRef nsv876995 3 76097942 76197229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551606 S 6533 1 0 "" MS18947 nsv237457 3 76128650 76128718 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256035 M 24 "" nsv237970 3 76144650 76145668 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256548 M 24 "" esv1007320 3 76146062 76146239 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585662 S 3 0 1 "" HuRef esv1974669 3 76146180 76146580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4614418 S 1 0 1 "" NA18507 essv7286 3 76158979 76250987 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18592 nsv818152 3 76159833 76176911 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416923 S 112 0 1 "" NA19138 nsv517731 3 76166636 76176911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668594,nssv689921,nssv684761,nssv681128,nssv680887,nssv653034,nssv670420,nssv672322,nssv690686,nssv661418,nssv689363,nssv686843,nssv676060,nssv687178,nssv692129,nssv692555 M 2026 0 16 "" esv2422055 3 76166636 76179261 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5061830,essv5114868,essv5101383,essv5160683,essv5073439,essv5123264,essv5079776,essv5065881,essv5113194,essv5118919,essv5112881,essv5106890 M 1184 0 12 "" NA19138,NA19248,NA19249,NA19317,NA19360,NA19383,NA19385,NA19455,NA19625,NA21381,NA21383,NA21510 nsv518802 3 76166636 76184447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696255 S 2026 0 1 "" nsv876996 3 76176911 76213941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551975 S 6533 0 1 "" MS19068 essv21828 3 76248984 76935064 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11839 nsv10286 3 76272721 76277015 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12013 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv2168737 3 76281161 76281686 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751348 S 1 0 1 "" NA18507 esv1009430 3 76281353 76281553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580596 S 3 0 1 "" HuRef esv1290452 3 76281975 76282185 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972562 S 2 0 1 "" HuRef esv2526527 3 76282172 76282239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278598 S 1 0 1 "" NA18507 esv273833 3 76304904 76305132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579147,essv2579619 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267897 3 76304965 76305297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522658,essv2577200,essv2576739,essv2552048,essv2520109,essv2561978,essv2520859,essv2557073,essv2532383,essv2562747,essv2569496,essv2523593,essv2552896,essv2540574,essv2534937,essv2561113,essv2519579,essv2570263,essv2572198,essv2559130,essv2550994,essv2568850,essv2543775,essv2528132,essv2533880,essv2573093,essv2555394,essv2566380,essv2531622,essv2573582,essv2543352,essv2572071,essv2529652,essv2574643,essv2572717,essv2571216 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12043,NA12154,NA12489,NA12815,NA12874,NA18498,NA18501,NA18505,NA18507,NA18508,NA18537,NA18542,NA18552,NA18561,NA18562,NA18566,NA18593,NA18609,NA18638,NA18858,NA18861,NA18870,NA18907,NA18916,NA18942,NA18943,NA18948,NA18961,NA18964,NA18965,NA18973,NA19093,NA19138,NA19143,NA19238 nsv238091 3 76317058 76326195 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256669 M 24 "" dgv5171n71 3 76333818 76483441 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv876998,nsv876997 M 6533 0 2 "" IS31553,IS41317 esv259465 3 76338225 76338508 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394194 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv269697 3 76428310 76428662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500964,essv2498406,essv2501331,essv2506962,essv2510476,essv2499787 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA18858,NA19093,NA19102,NA19172,NA19225 esv2519372 3 76456348 76457854 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237168 S 1 0 1 "" NA18507 nsv507104 3 76552677 76558677 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617606 S 4 1 0 "" CHM nsv876999 3 76566081 76660866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548621 S 6533 1 0 "" MS17878 esv4160 3 76571077 76571320 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26601 S 1 0 1 Single Asian sample YH "" YH nsv877000 3 76573491 76613497 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541786 S 6533 0 1 "" MS15491 esv274330 3 76633877 76634233 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580952 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270842 3 76633877 76634236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496796,essv2496518,essv2496307,essv2508966,essv2500917,essv2507248,essv2513341,essv2509142,essv2506623,essv2498964,essv2510513,essv2501788,essv2498232 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18510,NA18511,NA18522,NA18856,NA18870,NA18907,NA18909,NA19108,NA19114,NA19172,NA19239,NA19240 nsv877001 3 76653306 76846180 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504783 S 6533 1 0 "" SP52729 nsv877002 3 76664471 76755382 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523861 S 6533 1 0 "" SP54227 nsv3884 3 76729567 76763354 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv310 S 9 1 0 "" NA19240 nsv10287 3 76749498 76751377 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28885 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv877003 3 76813802 77030007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535752 S 6533 0 1 "" MS12461 nsv3885 3 76845956 76866610 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7830 S 9 0 1 "" NA12156 nsv10288 3 76860987 76866040 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12188,nssv12690,nssv29161 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA19221 esv2511766 3 76861845 76863377 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210628 S 1 0 1 "" NA18507 esv1250653 3 76862175 76862651 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039597 S 2 0 1 "" HuRef nsv877004 3 76865030 76971029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548622 S 6533 1 0 "" MS17878 dgv5172n71 3 76870401 76982344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877007,nsv877006,nsv877005 M 6533 0 4 "" MS15312,MS17114,MS18620,MS18847 nsv877008 3 76875158 77012037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598109 S 6533 0 1 "" IS41068 nsv834738 3 76937179 77101108 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442888,nssv1442887,nssv1442890,nssv1442889 M 95 1 3 "" nsv818153 3 76998543 77008730 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417840 S 112 1 0 "" NA18852 nsv877009 3 77002534 77085007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569946 S 6533 0 1 "" IS31758 dgv5173n71 3 77037878 77090520 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877010,nsv877011,nsv877012,nsv877013 M 6533 0 6 "" IS31564,IS33533,IS41634,MS12266,MS14779,SP58537 nsv877014 3 77055494 77085007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512956 S 6533 0 1 "" SP55660 esv269455 3 77068538 77068874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519330,essv2517450,essv2515515,essv2515096,essv2518141,essv2516911,essv2519100,essv2515269,essv2518944,essv2518356 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12249,NA12812,NA12872,NA12892,NA19141,NA19238,NA19239,NA19240 esv274479 3 77068543 77068869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583010,essv2584088,essv2584756,essv2583349 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv509832 3 77172858 77178858 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618576,nssv623907,nssv622028,nssv621555 M 4 0 4 ROBO2 CHM,NA10860,NA15510,NA18994 nsv822146 3 77180990 77182113 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434323 S 31 0 1 ROBO2 NA18570 esv1623331 3 77240054 77240054 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131742 S 2 1 0 ROBO2 HuRef nsv525804 3 77320339 77333982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701988 S 2026 0 1 ROBO2 nsv877015 3 77335882 77412082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548623 S 6533 1 0 ROBO2 MS17878 esv29384 3 77420331 77428695 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11039 S 451 3 5 ROBO2 NA06985,NA07045,NA12776,NA12828,NA18508,NA18909,NA19108,NA19240 esv1000557 3 77421990 77422465 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569968 S 3 0 1 ROBO2 HuRef esv1228509 3 77422364 77422840 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222468 S 2 0 1 ROBO2 HuRef esv1519897 3 77426189 77426189 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981781 S 2 1 0 ROBO2 HuRef esv1136393 3 77427224 77427224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624326 S 2 1 0 ROBO2 HuRef nsv877016 3 77427368 77489198 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507173 S 6533 1 0 ROBO2 SP54489 esv989139 3 77427397 77427502 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574826 S 3 0 1 ROBO2 HuRef esv1093026 3 77427502 77427502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257405 S 2 1 0 ROBO2 HuRef nsv512806 3 77454281 77455017 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625440 S 1 1 0 ROBO2 1 esv1701230 3 77454849 77454849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047894 S 2 1 0 ROBO2 HuRef dgv1475e1 3 77481544 77639025 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20307,essv14650,essv17833,esv144,essv17038,essv22740,essv20624 M 271 0 0 ROBO2 NA07019,NA07056,NA10831,NA12144,NA19093,NA19144 nsv834739 3 77563811 77760406 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442891 S 95 1 0 ROBO2 nsv3886 3 77634414 77667854 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7831 S 9 0 1 ROBO2 NA12156 nsv509833 3 77642325 77648325 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623908 S 4 0 1 ROBO2 NA18994 nsv834740 3 77658643 77850175 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442893,nssv1442892 M 95 1 1 ROBO2 nsv819347 3 77723400 77730025 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419785 S 2 1 0 ROBO2 AK1 nsv470649 3 77861700 77961511 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547490 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00591 esv28014 3 77894587 77895454 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21181 S 451 0 3 "" NA18508,NA19225,NA19240 nsv436376 3 77895000 77902245 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466013 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv822147 3 77908144 77928132 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424878 S 31 0 1 "" AK2 nsv441829 3 77910146 77924562 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv236123 3 77913013 77920350 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254701 M 24 "" nsv526497 3 77925886 77939980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702806 S 2026 0 1 "" nsv834741 3 77933500 78072374 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442894 S 95 1 0 "" nsv877017 3 77964087 78753344 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597222 S 6533 1 0 ROBO1 IS40775 esv269748 3 78006763 78008007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512657,essv2496026 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18577,NA18961 nsv3887 3 78036567 78048232 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7832 S 9 0 1 "" NA12156 nsv834742 3 78114893 78337541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442895 S 95 1 0 "" esv995439 3 78129976 78131015 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587188 S 3 0 1 "" HuRef esv9403 3 78269631 78270106 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31844 S 1 0 0 "" SJK nsv460726 3 78378354 78538457 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537250 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00703 nsv470661 3 78405572 78542040 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547501 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00703 nsv877018 3 78503508 78554775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580501 S 6533 0 1 "" IS35347 esv1217140 3 78505018 78505070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883681 S 2 0 1 "" HuRef dgv1476e1 3 78536627 78579808 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv994,essv9562 M 271 0 0 "" NA18861 esv21941 3 78543125 78558702 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19370 S 451 1 0 "" NA18861 esv2608270 3 78567776 78569386 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348991 S 1 0 1 "" NA18507 nsv834743 3 78576953 78746290 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442897 S 95 0 1 ROBO1 esv27970 3 78672461 78674343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10125 S 451 0 1 "" NA19225 nsv237835 3 78686354 78686354 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256413 M 24 "" nsv822148 3 78861996 78862483 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438951,nssv1428169,nssv1424096,nssv1436491,nssv1431214,nssv1424952,nssv1422162,nssv1425373,nssv1426543,nssv1439590 M 31 0 10 ROBO1 AK10,AK18,AK6,NA18537,NA18542,NA18547,NA18582,NA18592,NA18947,NA18968 esv1007360 3 78862108 78862407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572467 S 3 0 1 ROBO1 HuRef nsv236494 3 78862114 78862413 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255072 M 24 ROBO1 nsv822149 3 78890205 78892269 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422504 S 31 0 1 ROBO1 NA18552 nsv877019 3 78891540 78959907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548624 S 6533 1 0 ROBO1 MS17878 esv2432577 3 78973394 78974819 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166670 S 1 0 1 ROBO1 NA18507 esv1786723 3 78974070 78974122 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997139 S 2 0 1 ROBO1 HuRef nsv834744 3 78994235 79159160 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442898 S 95 0 1 ROBO1 nsv877020 3 78995893 79058672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568529 S 6533 0 1 ROBO1 IS31302 nsv470672 3 78995893 79068495 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547512 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ROBO1 HGDP00875 nsv520937 3 79108259 79122096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681087,nssv692810,nssv678078 M 2026 0 3 ROBO1 nsv834745 3 79138116 79310627 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442899 S 95 1 0 ROBO1 esv268041 3 79298964 79299049 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518704 S 157 1 0 Samples from several populations that are part of the HapMap project. ROBO1 NA12045 esv2422412 3 79366217 81386046 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161546 S 181 0 1 ROBO1 ND01493 nsv834747 3 79523901 79674613 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442900 S 95 1 0 ROBO1 nsv877021 3 79643294 79975160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564852 S 6533 0 1 ROBO1 IS30311 esv2520472 3 79659532 79659984 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302900 S 1 1 0 ROBO1 NA18507 nsv877022 3 79667848 79843464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578665 S 6533 0 1 ROBO1 IS34856 nsv460731 3 79667848 81408551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537252 S 1557 0 1 ROBO1 NINDS_242 nsv236995 3 79689592 79689592 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255573 M 24 ROBO1 esv1409005 3 79689608 79689608 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200366 S 2 1 0 ROBO1 HuRef esv2123767 3 79746440 79746767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792290 S 1 0 1 ROBO1 NA18507 esv1413527 3 79750945 79750945 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780526 S 2 1 0 ROBO1 HuRef nsv507105 3 79774911 79780911 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620765 S 4 1 0 ROBO1 NA15510 dgv5174n71 3 79791682 79867106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877024,nsv877023 M 6533 0 2 ROBO1 IS35083,MS18620 nsv877025 3 79793424 79924453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548625 S 6533 1 0 ROBO1 MS17878 nsv877026 3 79803475 80000964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582109 S 6533 0 1 ROBO1 IS35789 nsv877027 3 79812865 81811207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512370 S 6533 0 1 GBE1,ROBO1 SP55465 nsv509834 3 79851021 79857021 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623909 S 4 0 1 ROBO1 NA18994 nsv822150 3 79891665 79892666 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424881 S 31 1 0 ROBO1 AK2 esv2208607 3 79892409 79892837 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858972 S 1 0 1 ROBO1 NA18507 esv991723 3 79892589 79892658 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578921 S 3 0 1 ROBO1 HuRef esv270699 3 79894297 79894645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575966,essv2568286,essv2520533,essv2547472,essv2558502,essv2559479,essv2555157,essv2519718,essv2521965,essv2533685,essv2531312,essv2526450,essv2574891,essv2551376,essv2533018,essv2524911,essv2563125 M 157 17 0 Samples from several populations that are part of the HapMap project. ROBO1 NA07051,NA07357,NA10847,NA11830,NA11995,NA12716,NA12717,NA12750,NA12776,NA12872,NA18566,NA18571,NA18944,NA18961,NA19114,NA19138,NA19257 nsv877028 3 79906922 79980137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540886 S 6533 1 0 "" MS15078 nsv877029 3 79906922 80029943 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562038 S 6533 1 0 "" MS25331 nsv834748 3 79911358 80068378 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442902,nssv1442901 M 95 1 1 "" nsv526868 3 79924453 79930747 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703226 S 2026 1 0 "" esv2223007 3 79980486 79980902 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705387 S 1 0 1 "" NA18507 nsv3889 3 80012408 80057397 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7833 S 9 0 1 "" NA12156 esv1004874 3 80073215 80075322 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564909 S 3 1 0 "" HuRef nsv877030 3 80095753 80527533 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542676 S 6533 1 0 "" MS15834 nsv509835 3 80142785 80148785 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623910 S 4 0 1 "" NA18994 nsv511205 3 80143067 80146954 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626610 S 1 0 1 "" 1 nsv513054 3 80144493 80147944 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626538 S 1 0 1 "" 1 esv29618 3 80144512 80147226 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17166,esv16158 M 451 10 8 "" NA07037,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12414,NA12878,NA15510,NA18505,NA18517,NA18861,NA18907,NA18909,NA19108,NA19190,NA19240 nsv821427 3 80144512 80147226 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420327 S 1 0 1 "" NA10851 nsv822151 3 80144512 80147226 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421599,nssv1438726,nssv1435775,nssv1425386,nssv1423281,nssv1434989,nssv1426544,nssv1431215,nssv1440968,nssv1432737,nssv1433555,nssv1430479,nssv1422286,nssv1431958,nssv1438963,nssv1425643,nssv1427401,nssv1437350,nssv1428948,nssv1424882 M 31 0 20 "" AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18547,NA18566,NA18592,NA18942,NA18947,NA18949,NA18969,NA18972,NA18973,NA18997,NA18999 nsv822152 3 80145387 80146248 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422505 S 31 0 1 "" NA18552 dgv813n67 3 80145387 80147184 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822153,nsv822155,nsv822156 M 31 0 9 "" AK10,AK14,NA18537,NA18542,NA18564,NA18570,NA18582,NA18951,NA18968 nsv470683 3 80240874 80352067 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547523 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 nsv460732 3 80240874 80353976 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537253 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00913 nsv520475 3 80249001 80352067 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697442 S 2026 1 0 "" nsv877031 3 80460159 80552658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553420 S 6533 0 1 "" MS20030 nsv877032 3 80460159 80607734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600554 S 6533 0 1 "" IS41895 dgv5175n71 3 80468242 80537502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877034,nsv877033 M 6533 0 3 "" SP55878,SP56224,SP57266 esv2421659 3 80485113 80488516 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5011777,essv5064616,essv5041861,essv5076472,essv5146917,essv5091413,essv5139291,essv5115570,essv5017063,essv5054266,essv5110104,essv5080223,essv5125776,essv5008234,essv5140534,essv5125376,essv5093541 M 1184 0 17 "" NA18923,NA19185,NA19186,NA19203,NA19316,NA19372,NA19379,NA19396,NA19397,NA19403,NA19713,NA19985,NA20341,NA20350,NA21360,NA21381,NA21417 nsv518676 3 80485923 80492849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694260 S 2026 0 1 "" nsv877035 3 80601918 80647042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504536 S 6533 1 0 "" SP52582 nsv820188 3 80603210 80644844 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418733 S 2 1 0 "" AK1 nsv822157 3 80620343 80621258 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425644 S 31 1 0 "" AK4 nsv877036 3 80631054 80717894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513826 S 6533 0 1 "" SP55851 nsv508934 3 80662311 80675468 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619333 S 4 1 0 "" NA10860 nsv3890 3 80667948 80679526 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3100 S 9 1 0 "" NA18555 nsv527598 3 80668145 81333353 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704060 S 2026 1 0 "" nsv822158 3 80668890 80670129 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426545 S 31 1 0 "" AK6 esv1011302 3 80672838 80672852 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565678 S 3 1 0 "" HuRef nsv877037 3 80694508 80893942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580064 S 6533 0 1 "" IS35229 esv1974981 3 80739924 80740391 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753992 S 1 0 1 "" NA18507 esv1428217 3 80740150 80740278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916717 S 2 0 1 "" HuRef nsv877038 3 80864416 81067648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531485 S 6533 0 1 "" MS10491 esv2057776 3 80902114 80902507 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556917 S 1 0 1 "" NA18507 esv1004298 3 80902337 80902420 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575197 S 3 0 1 "" HuRef esv1024983 3 80902339 80902423 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618662 S 2 0 1 "" HuRef nsv877039 3 80902368 81145308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548626 S 6533 1 0 "" MS17878 nsv3891 3 80967973 81000970 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2402 S 9 1 0 "" NA18555 esv2477400 3 81007569 81010333 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172407 S 1 0 1 "" NA18507 nsv513055 3 81007681 81009500 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626539 S 1 0 1 "" 1 esv2294426 3 81007824 81009482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909751 S 1 0 1 "" NA18507 esv3596 3 81007966 81009344 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26037 S 1 0 1 Single Asian sample YH "" YH esv1005698 3 81008001 81009293 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577588 S 3 0 1 "" HuRef nsv237072 3 81008002 81009294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255650 M 24 "" esv7363 3 81008002 81009297 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29804 S 1 0 1 "" SJK esv1505788 3 81008004 81009297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997281 S 2 0 1 "" HuRef esv270218 3 81047549 81047876 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546471,essv2570964,essv2545421,essv2570516,essv2550641,essv2535340,essv2544231,essv2552008,essv2529387,essv2558247,essv2553599,essv2565222,essv2576499,essv2520246,essv2562858,essv2534881,essv2539716,essv2519581,essv2559820,essv2522156,essv2541795,essv2572347,essv2559184,essv2533617,essv2573819,essv2531446,essv2573747,essv2543322,essv2529519,essv2574795,essv2549738,essv2538036,essv2548814,essv2524994 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA11881,NA11993,NA12003,NA12044,NA12155,NA12249,NA12414,NA12489,NA12749,NA12750,NA12763,NA12812,NA12814,NA12815,NA18532,NA18561,NA18563,NA18566,NA18570,NA18571,NA18592,NA18609,NA18638,NA18944,NA18951,NA18961,NA18964,NA18965,NA19093,NA19138,NA19225 nsv877040 3 81110385 81196639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568661 S 6533 0 1 "" IS31330 esv1520799 3 81146809 81147124 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116571 S 2 0 1 "" HuRef esv2585677 3 81169642 81171130 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311286 S 1 0 1 "" NA18507 nsv3892 3 81257918 81291917 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv311 S 9 1 0 "" NA19240 esv1742548 3 81272725 81272725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184402 S 2 1 0 "" HuRef dgv814n67 3 81279138 81285445 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822159,nsv822160 M 31 0 2 "" NA18947,NA18972 esv7556 3 81279144 81285684 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29997 S 1 0 1 "" SJK esv23807 3 81305912 81306651 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13747 S 451 0 2 "" NA18523,NA19225 esv2372380 3 81419132 81419609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809262 S 1 0 1 "" NA18507 esv2635301 3 81428185 81429589 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296514 S 1 0 1 "" NA18507 esv2077447 3 81428560 81429275 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840922 S 1 0 1 "" NA18507 esv1009695 3 81428767 81429081 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568548 S 3 0 1 "" HuRef esv9114 3 81428769 81429070 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31555 S 1 0 1 "" SJK esv1011944 3 81428772 81429087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899314 S 2 0 1 "" HuRef esv1008470 3 81674749 81684857 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563799 S 3 0 1 GBE1 HuRef esv995823 3 81678261 81682356 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585452 S 3 0 1 GBE1 HuRef esv1005110 3 81678466 81682210 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586618 S 3 0 1 GBE1 HuRef esv23507 3 81678986 81682296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10285 S 451 0 1 GBE1 NA11995 nsv834749 3 81738067 81901570 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442903,nssv1442904,nssv1442905 M 95 3 0 GBE1 esv1726256 3 81869207 81869257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820510 S 2 0 1 GBE1 HuRef esv3326 3 81876031 81877559 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25767 S 1 0 1 Single Asian sample YH GBE1 YH nsv822161 3 81902969 81903416 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434325 S 31 1 0 "" NA18570 esv2453055 3 81988813 81990681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189200 S 1 0 1 "" NA18507 dgv23e194 3 81990016 81990706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2022920,esv2018755 M 1 0 1 "" NA18507 esv3130 3 81990161 81990559 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25571 S 1 0 1 Single Asian sample YH "" YH esv1006246 3 81990187 81990506 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570421 S 3 0 1 "" HuRef esv6487 3 81990196 81990498 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28928 S 1 0 1 "" SJK esv1484982 3 81990197 81990517 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924792 S 2 0 1 "" HuRef nsv441830 3 81992028 82006436 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv3893 3 82073048 82085620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3101,nssv3178 M 9 2 0 "" NA12878,NA18555 esv269543 3 82138786 82139045 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505520,essv2502765,essv2496868,essv2510759,essv2494171,essv2504296,essv2496212,essv2501208,essv2493796,essv2506204,essv2500467,essv2508635,essv2499241,essv2498617,essv2507341,essv2509402,essv2502717,essv2501267,essv2504798,essv2506709,essv2510399,essv2497040,essv2493907,essv2511937,essv2498215,essv2503876,essv2511507 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA12154,NA12892,NA18498,NA18501,NA18502,NA18505,NA18511,NA18516,NA18517,NA18523,NA18537,NA18592,NA18605,NA18858,NA18912,NA18953,NA18965,NA19093,NA19099,NA19108,NA19172,NA19190,NA19210,NA19238,NA19240 esv273436 3 82138809 82139133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583033,essv2584270,essv2583673 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 nsv877041 3 82156714 82445886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534531 S 6533 0 1 "" MS11663 nsv877042 3 82183020 83206919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562078 S 6533 1 0 "" MS25357 esv274986 3 82191459 82196582 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585308,essv2585525 M 1250 1 1 "" esv272832 3 82227524 82233610 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584062,essv2584727,essv2583749 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268744 3 82227524 82233643 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2568116,essv2576881,essv2558412,essv2520065,essv2557476,essv2556873,essv2552458,essv2532285,essv2569571,essv2578840,essv2536983,essv2569850,essv2527052,essv2561388,essv2523624,essv2540473,essv2539642,essv2553224,essv2542037,essv2534003,essv2566392,essv2557699,essv2543344,essv2529590,essv2538507,essv2560611,essv2572819,essv2545051,essv2560393,essv2571208,essv2545805,essv2574111,essv2538006,essv2548853,essv2554749 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA11995,NA12154,NA12750,NA12815,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18517,NA18520,NA18522,NA18523,NA18537,NA18552,NA18563,NA18605,NA18856,NA18916,NA18948,NA18953,NA18965,NA19093,NA19108,NA19116,NA19143,NA19172,NA19190,NA19238,NA19239,NA19240 nsv877043 3 82281157 82394401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587472 S 6533 1 0 "" IS38056 esv2462862 3 82284396 82287116 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325837 S 1 0 1 "" NA18507 esv24972 3 82285966 82286696 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17762 S 451 0 8 "" NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18909,NA19240 esv6701 3 82286292 82286873 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29142 S 1 0 0 "" SJK nsv877044 3 82297307 82348723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499867 S 6533 0 1 "" SP50120 esv2343357 3 82360964 82361368 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604859 S 1 0 1 "" NA18507 nsv822162 3 82397145 82400381 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422409 S 31 0 1 "" NA18592 nsv523771 3 82445886 82495384 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699593 S 2026 1 0 "" esv1916940 3 82596826 82597624 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662765 S 1 0 1 "" NA18507 esv2636384 3 82613483 82614942 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202285 S 1 0 1 "" NA18507 esv21454 3 82623230 82624165 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19325 S 451 0 1 "" NA19099 nsv834750 3 82727715 82885473 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442906 S 95 1 0 "" esv275546 3 82753630 82756838 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585936 S 1250 0 1 "" esv2083530 3 82773820 82774361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823478 S 1 0 1 "" NA18507 esv3063 3 82773926 82774382 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25504 S 1 0 1 Single Asian sample YH "" YH nsv460734 3 82790459 82849478 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537255 S 1557 0 1 "" 1782681317_A esv1129435 3 82792827 82792827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133092 S 2 1 0 "" HuRef nsv877045 3 82811321 82891298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598791 S 6533 0 1 "" IS41292 nsv3894 3 82818367 82852822 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3102 S 9 1 0 "" NA18555 nsv526869 3 82930680 82932786 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703227 S 2026 1 0 "" esv1001789 3 82949632 82956451 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563750 S 3 0 1 "" HuRef nsv437779 3 82950582 82960328 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467660 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12801 nsv10289 3 82951325 82955909 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12134,nssv28817,nssv11819,nssv12027 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA19132,NA19173 esv23874 3 82951406 82955860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20465 S 451 0 8 "" NA11995,NA12414,NA12776,NA18517,NA18907,NA18916,NA19108,NA19257 nsv822163 3 82951495 82955535 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423282,nssv1427402 M 31 0 2 "" AK8,NA18999 dgv108e180 3 82951495 82955574 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008142,esv991057 M 3 0 1 "" HuRef esv989171 3 82951528 82955568 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583444 S 3 0 1 "" HuRef esv2421895 3 82951779 82955733 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5086156,essv5030691,essv5097902,essv5084467,essv5138557,essv5126233,essv5124578,essv5104500,essv5126013,essv5123366,essv5145226,essv5018982,essv5113668,essv5093115,essv5148600,essv5041610,essv5081545,essv5145796,essv5073272,essv5124255,essv5150104,essv5025603,essv5136375,essv5089659,essv5081059,essv5054582,essv5080041,essv5034411,essv5049922,essv5143257,essv5061599,essv5129710,essv5061464,essv5076441,essv5016435,essv5100068,essv5129101,essv5100882,essv5069415,essv5151799,essv5082830,essv5069605,essv5094967,essv5095540,essv5013576,essv5026819,essv5075954,essv5107115,essv5028616,essv5112032,essv5010412,essv5144295,essv5005964,essv5075363,essv5140296,essv5069400,essv5043519,essv5096670,essv5093254,essv5056127,essv5021992,essv5140514,essv5009682,essv5009164,essv5029167,essv5153855,essv5149194,essv5154664,essv5142487,essv5140146,essv5024580,essv5143550,essv5154098,essv5018769,essv5024084,essv5107559,essv5145028,essv5151489,essv5087219,essv5152012,essv5030795,essv5116526,essv5159113,essv5151241,essv5083322,essv5051612,essv5094589,essv5138327,essv5127084,essv5157582,essv5032217,essv5064991,essv5158274,essv5075785,essv5091654,essv5147662,essv5059183,essv5047233,essv5127123,essv5095117,essv5040756,essv5074638,essv5113729,essv5087591,essv5135299,essv5014754,essv5049168,essv5085665,essv5140860,essv5128260,essv5113593,essv5112915,essv5018246,essv5038088,essv5130058,essv5156782,essv5040910,essv5071302,essv5143896,essv5081787,essv5084414,essv5140631,essv5050663,essv5071099,essv5110714,essv5011371,essv5124273,essv5007757,essv5133300,essv5129131,essv5007574,essv5028853,essv5084643,essv5048261,essv5043460,essv5085197,essv5033264,essv5079147,essv5131628,essv5071614,essv5109169,essv5066195,essv5057968,essv5096074,essv5015289,essv5154843,essv5050057,essv5026878,essv5160835,essv5040098,essv5037440,essv5079848,essv5059318,essv5128181,essv5049697,essv5117620,essv5137522,essv5023443,essv5026740,essv5069274,essv5074872,essv5105764,essv5059669,essv5040259,essv5149102,essv5051443,essv5151201,essv5085414,essv5083506,essv5076080,essv5084437,essv5087060,essv5020816,essv5081880,essv5148156,essv5051488,essv5088352,essv5029509,essv5147108,essv5086269 M 1184 0 180 "" NA06993,NA07022,NA07056,NA10835,NA10840,NA10843,NA10859,NA10861,NA11843,NA11881,NA11919,NA11995,NA12234,NA12248,NA12264,NA12286,NA12336,NA12342,NA12386,NA12399,NA12708,NA12718,NA12766,NA12776,NA12801,NA12812,NA12827,NA17966,NA17967,NA17977,NA17981,NA17988,NA17990,NA18105,NA18112,NA18135,NA18155,NA18157,NA18487,NA18510,NA18517,NA18519,NA18579,NA18619,NA18642,NA18670,NA18682,NA18702,NA18704,NA18853,NA18870,NA18872,NA18916,NA18959,NA18970,NA18976,NA18999,NA19000,NA19044,NA19054,NA19080,NA19098,NA19108,NA19116,NA19120,NA19130,NA19131,NA19132,NA19137,NA19139,NA19143,NA19146,NA19148,NA19159,NA19172,NA19173,NA19178,NA19179,NA19180,NA19181,NA19183,NA19184,NA19186,NA19200,NA19202,NA19206,NA19209,NA19211,NA19239,NA19257,NA19258,NA19308,NA19309,NA19311,NA19319,NA19350,NA19360,NA19380,NA19430,NA19435,NA19438,NA19440,NA19451,NA19467,NA19625,NA19649,NA19651,NA19652,NA19653,NA19654,NA19660,NA19664,NA19676,NA19677,NA19682,NA19683,NA19685,NA19686,NA19716,NA19719,NA19720,NA19725,NA19726,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19783,NA19784,NA19795,NA19908,NA20281,NA20287,NA20288,NA20292,NA20332,NA20333,NA20344,NA20345,NA20350,NA20530,NA20535,NA20588,NA20757,NA20790,NA20805,NA20807,NA20818,NA20854,NA20869,NA20898,NA21094,NA21098,NA21099,NA21106,NA21119,NA21123,NA21125,NA21311,NA21360,NA21361,NA21408,NA21418,NA21424,NA21425,NA21476,NA21477,NA21574,NA21575,NA21583,NA21685 dgv5176n71 3 82951779 83110302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877050,nsv877046,nsv877047 M 6533 0 3 "" IS31041,IS40067,MS22013 dgv5177n71 3 82951779 83406873 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877048,nsv877051 M 6533 0 2 "" IS35028,IS35911 nsv442865 3 82955469 82955733 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv877049 3 82956294 83010631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518123 S 6533 0 1 "" SP57469 dgv5178n71 3 82989090 83110302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877052,nsv877053 M 6533 0 2 "" IS30742,MS13727 esv27928 3 82992049 82993462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10111 S 451 0 1 "" NA18517 esv2423987 3 83018827 83020411 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174409 S 1 0 1 "" NA18507 esv2230613 3 83019152 83019839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736370 S 1 0 1 "" NA18507 esv2983 3 83019287 83019793 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25424 S 1 0 1 Single Asian sample YH "" YH esv2461422 3 83019349 83019649 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250207 S 1 0 1 "" NA18507 esv8407 3 83019352 83019646 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30848 S 1 0 1 "" SJK nsv877054 3 83020630 83172286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567179 S 6533 0 1 "" IS31046 esv1590917 3 83048616 83048731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093015 S 2 0 1 "" HuRef esv28482 3 83099930 83102774 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11741 S 451 0 2 "" NA18907,NA18909 nsv877055 3 83121967 83406873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581703 S 6533 0 1 "" IS35701 nsv877056 3 83136377 83252666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579099,nssv1578555,nssv1558705,nssv1593738,nssv1557922 M 6533 0 5 "" IS34805,IS35018,IS39512,MS22993,MS23495 dgv5179n71 3 83136377 83354981 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877060,nsv877059,nsv877058,nsv877061,nsv877057 M 6533 0 6 "" IS41964,MS15312,MS17114,MS19303,MS22705,MS23290 nsv507106 3 83160171 83166171 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622858,nssv617607,nssv620766,nssv621708 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2398985 3 83178693 83179093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667503 S 1 0 1 "" NA18507 dgv5180n71 3 83181763 83406873 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877062,nsv877066,nsv877067,nsv877063 M 6533 0 16 "" IS30147,IS34830,IS35227,IS35788,IS36640,IS37979,IS41780,IS41881,IS41898,IS41939,MS16345,MS16824,MS20237,MS21100,MS21356,MS23531 esv1379690 3 83185098 83185098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749171 S 2 1 0 "" HuRef dgv5181n71 3 83206919 83352420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877065,nsv877064 M 6533 0 2 "" IS30311,IS31634 nsv433216 3 83211104 83290208 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463097 S 9 0 1 "" NA15510 nsv3895 3 83222784 83267738 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7834 S 9 0 1 "" NA12156 nsv529000 3 83224292 83326936 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705706 S 2026 1 0 "" nsv470694 3 83237104 83508169 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547534,nssv547545 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00544,HGDP00947 nsv460738 3 83252666 83388138 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537256 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00947 esv269254 3 83285457 83285797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541077,essv2576498,essv2523601,essv2540398,essv2534544,essv2561252,essv2532595,essv2533678,essv2531548,essv2572052,essv2526851 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA12814,NA18537,NA18552,NA18561,NA18562,NA18576,NA18944,NA18961,NA18973,NA19005 nsv877068 3 83298713 83365461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517961,nssv1515756 M 6533 0 2 "" SP56267,SP57418 nsv877069 3 83298713 83508170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517724 S 6533 0 1 "" SP57367 nsv877070 3 83343717 83449995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515232 S 6533 0 1 "" SP56143 esv999132 3 83386754 83386755 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570025 S 3 1 0 "" HuRef esv1133149 3 83386756 83386756 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929383 S 2 1 0 "" HuRef nsv237137 3 83386757 83386757 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255715 M 24 "" nsv877071 3 83406873 83619218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536484 S 6533 1 0 "" MS12822 esv1169537 3 83627600 83627652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857065 S 2 0 1 "" HuRef nsv460739 3 83630125 83709387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537257 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00930 nsv525529 3 83662568 83708628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701664 S 2026 0 1 "" esv272673 3 83696659 83697248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579297,essv2579399 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv509836 3 83815599 83821599 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623911,nssv621557,nssv618577,nssv622029 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1587404 3 83839353 83839353 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092014 S 2 1 0 "" HuRef nsv521028 3 83843045 83857768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680092,nssv692130 M 2026 0 2 "" nsv523566 3 83851258 84088727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699347 S 2026 0 1 "" esv1964006 3 83910746 83911172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908432 S 1 0 1 "" NA18507 esv1322658 3 83910935 83910984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302369 S 2 0 1 "" HuRef nsv3896 3 83925899 83942799 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4664 S 9 0 1 "" NA19129 esv1001132 3 83932436 83938726 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563542 S 3 0 1 "" HuRef nsv513056 3 83934884 83938396 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626540 S 1 0 1 "" 1 esv2614376 3 83934929 83938386 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322611 S 1 0 1 "" NA18507 dgv80n16 3 83935447 83939407 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435765,nsv436391 M 2 0 2 "" NA15510,NA18505 esv2331114 3 83935629 83938227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560501 S 1 0 1 "" NA18507 esv4338 3 83935759 83938191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26779 S 1 0 1 Single Asian sample YH "" YH nsv499006 3 83935805 83938053 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585867 S 9 0 1 "" esv988363 3 83935813 83938046 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581346 S 3 0 1 "" HuRef esv7087 3 83935818 83938037 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29528 S 1 0 1 "" SJK esv1225552 3 83935818 83938052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276107 S 2 0 1 "" HuRef esv26409 3 83942605 83946311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18716 S 451 0 1 "" NA18909 nsv877072 3 83960374 84011169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541097 S 6533 0 1 "" MS15199 esv269119 3 84009473 84009806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511043,essv2502289,essv2505566,essv2503448,essv2500691,essv2500507,essv2495812 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11831,NA12004,NA12154,NA12716,NA18571,NA18956 dgv5182n71 3 84028653 84177508 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877077,nsv877076,nsv877074,nsv877073 M 6533 0 8 "" IS30180,IS35027,IS35654,IS37730,IS38621,MS15199,MS17204,SP54030 dgv5183n71 3 84034834 84281765 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877075,nsv877078 M 6533 0 2 "" IS31581,MS18620 esv270853 3 84037622 84038016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507482,essv2511604,essv2497929 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18638,NA18940,NA18945 nsv470705 3 84052919 84130486 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547556 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00874 nsv834751 3 84070178 84216160 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442908 S 95 0 1 "" nsv528225 3 84100320 84107537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704786 S 2026 0 1 "" nsv877079 3 84100320 84148793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513743 S 6533 0 1 "" SP55842 nsv877080 3 84138765 84188931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505850 S 6533 0 1 "" SP54042 nsv508225 3 84166778 84205712 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622464 S 4 0 1 "" NA18994 nsv877081 3 84177508 84281765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536506 S 6533 0 1 "" MS12827 nsv820954 3 84186592 84190052 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420328 S 1 0 1 "" NA10851 nsv822164 3 84186592 84190052 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432739,nssv1440263,nssv1440969,nssv1438727,nssv1426547,nssv1423283,nssv1434326,nssv1435776,nssv1425410,nssv1439592,nssv1431216,nssv1433556,nssv1425646,nssv1424883,nssv1438974 M 31 1 14 "" AK18,AK2,AK4,AK6,NA18526,NA18537,NA18547,NA18564,NA18566,NA18570,NA18947,NA18969,NA18972,NA18973,NA18999 esv5681 3 84187628 84190074 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28122 S 1 0 1 "" SJK esv22925 3 84187697 84190052 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11967 S 451 29 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv996641 3 84187697 84190052 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586290 S 3 1 0 "" HuRef esv996994 3 84188682 84189634 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587095 S 3 1 0 "" HuRef nsv822166 3 84188682 84189634 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428171,nssv1429702,nssv1437351 M 31 0 3 "" AK10,AK14,NA18949 nsv834752 3 84354356 84520540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442909 S 95 1 0 "" nsv822167 3 84393816 84394443 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424099 S 31 1 0 "" NA18582 dgv815n67 3 84395033 84395659 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822168,nsv822169 M 31 0 2 "" AK20,NA18947 nsv822170 3 84395164 84395974 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424100 S 31 1 0 "" NA18582 nsv877082 3 84403364 84653448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594946 S 6533 0 1 "" IS40067 nsv3897 3 84420468 84424901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9621 S 9 1 0 "" NA18507 esv6781 3 84451865 84451937 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29222 S 1 1 0 "" SJK nsv3898 3 84487786 84489778 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3179 S 9 1 0 "" NA12878 nsv3900 3 84499858 84531257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3180 S 9 1 0 "" NA12878 nsv508935 3 84513043 84518297 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623377 S 4 1 0 "" NA18994 esv274101 3 84516054 84522128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580624 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267675 3 84516054 84522146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526221,essv2542543,essv2545603,essv2523447,essv2531810,essv2521748,essv2576727,essv2550637,essv2525333,essv2550441,essv2520304,essv2547365,essv2537497,essv2546720,essv2552581,essv2551645,essv2578857,essv2561416,essv2553107,essv2538309,essv2540266,essv2565053,essv2534913,essv2539794,essv2519724,essv2560075,essv2566192,essv2531065,essv2559242,essv2566865,essv2551131,essv2562521,essv2556042,essv2577040,essv2526981,essv2560563,essv2537959,essv2524998 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11918,NA11919,NA12003,NA12004,NA12006,NA12144,NA12154,NA12155,NA12156,NA12234,NA12716,NA12717,NA12878,NA12892,NA18502,NA18504,NA18510,NA18523,NA18542,NA18547,NA18552,NA18558,NA18561,NA18563,NA18566,NA18570,NA18572,NA18573,NA18638,NA18853,NA18858,NA18909,NA18956,NA18970,NA19005,NA19116 nsv460744 3 84609103 84712995 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537259 S 1557 0 1 "" 1780862432_A nsv509837 3 84631148 84637148 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621558,nssv622030,nssv618578,nssv623912 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2633917 3 84675853 84676038 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333425 S 1 1 0 "" NA18507 nsv519161 3 84779229 84783402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696642 S 2026 0 1 LOC440970 esv9176 3 84782123 84785644 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31617 S 1 0 1 LOC440970 SJK esv23691 3 84782295 84785705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21430 S 451 0 7 LOC440970 NA06985,NA12749,NA12828,NA15510,NA18508,NA19114,NA19240 esv2422142 3 84782374 84784826 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085421,essv5057482,essv5107025,essv5071485,essv5118291,essv5085362,essv5130839,essv5077937,essv5043165,essv5055382,essv5049670,essv5129133,essv5021049,essv5084688,essv5150046,essv5114635,essv5020537,essv5031395,essv5075616,essv5051835,essv5103779,essv5133516,essv5133040,essv5054626,essv5080566,essv5137835,essv5024877,essv5055510,essv5086899,essv5109606,essv5059196,essv5037184,essv5146953,essv5142757,essv5057620,essv5108549,essv5069052,essv5055859,essv5081456,essv5060418,essv5131144,essv5024795,essv5003881,essv5095878,essv5137511,essv5147201,essv5155413,essv5029913,essv5086784,essv5074318,essv5052691,essv5053502,essv5131966,essv5035773,essv5017376,essv5088253,essv5097164,essv5099447,essv5107283,essv5025194,essv5117695,essv5066693,essv5066792,essv5122846,essv5061934,essv5074072,essv5111796,essv5015389,essv5013926,essv5025274,essv5090787,essv5084535,essv5062774,essv5014809,essv5072936,essv5087897,essv5059530,essv5062820,essv5156563,essv5002787,essv5014413,essv5062548,essv5109056,essv5088390,essv5127278,essv5038687,essv5099446,essv5087854,essv5109436,essv5142248,essv5070382,essv5132463,essv5063862,essv5069019,essv5098697,essv5059713,essv5086318,essv5146023,essv5134652,essv5050219,essv5103340,essv5072872,essv5129270,essv5095943,essv5103655,essv5115528,essv5114426,essv5039375,essv5110133,essv5052631,essv5037741,essv5041994,essv5010460,essv5130038,essv5041228,essv5015167,essv5016639,essv5110311,essv5031720,essv5028691,essv5150283,essv5059076,essv5016433,essv5108579,essv5002181,essv5069668,essv5082566,essv5027427,essv5136032,essv5057916,essv5026218,essv5037043,essv5051510,essv5106185,essv5028147,essv5080964,essv5114675,essv5147841,essv5146432,essv5080196,essv5140847,essv5126745,essv5148851,essv5067001,essv5015435,essv5141518,essv5117166,essv5107225,essv5069623,essv5141158,essv5081128,essv5159300,essv5027957,essv5021220,essv5114843,essv5065885,essv5032993,essv5125162,essv5049589,essv5095047,essv5117722,essv5023308,essv5113811,essv5039892,essv5015894,essv5151448,essv5128039,essv5041432,essv5067171,essv5102456,essv5125552,essv5062855,essv5138818,essv5132408,essv5073757,essv5015385,essv5156009,essv5057272,essv5049069,essv5105614,essv5063488,essv5154229,essv5124110,essv5107575,essv5066166,essv5104187,essv5060789,essv5035132,essv5094132,essv5077327,essv5102438,essv5115259,essv5157017,essv5084492,essv5058113,essv5048136,essv5016931,essv5146407,essv5065270,essv5016834,essv5113867,essv5115266,essv5083572,essv5041834,essv5037859,essv5109161,essv5090421,essv5155932,essv5046267,essv5109995,essv5092119,essv5013367,essv5051064,essv5160400,essv5042790,essv5113136,essv5101346,essv5083447,essv5141396,essv5013358,essv5119095,essv5161144,essv5127973,essv5020681,essv5092755,essv5110671,essv5076116,essv5092289,essv5045563 M 1184 0 229 LOC440970 NA06985,NA06989,NA07051,NA07056,NA10837,NA10854,NA10855,NA11832,NA11839,NA11919,NA12146,NA12273,NA12275,NA12283,NA12386,NA12399,NA12413,NA12749,NA12778,NA12814,NA12817,NA12828,NA17962,NA17965,NA17967,NA17969,NA17980,NA17981,NA17982,NA17983,NA17986,NA17988,NA17989,NA17996,NA17997,NA18105,NA18106,NA18112,NA18124,NA18127,NA18132,NA18135,NA18139,NA18140,NA18147,NA18151,NA18152,NA18156,NA18160,NA18485,NA18486,NA18487,NA18506,NA18508,NA18524,NA18532,NA18537,NA18543,NA18544,NA18546,NA18552,NA18557,NA18561,NA18564,NA18571,NA18576,NA18577,NA18579,NA18595,NA18596,NA18605,NA18609,NA18612,NA18614,NA18615,NA18619,NA18621,NA18622,NA18623,NA18628,NA18630,NA18631,NA18632,NA18635,NA18636,NA18637,NA18643,NA18647,NA18674,NA18702,NA18757,NA18855,NA18857,NA18912,NA18913,NA18939,NA18940,NA18946,NA18947,NA18948,NA18949,NA18951,NA18955,NA18957,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18973,NA18977,NA18979,NA18987,NA18993,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19055,NA19057,NA19060,NA19062,NA19064,NA19065,NA19066,NA19067,NA19074,NA19075,NA19076,NA19077,NA19080,NA19081,NA19084,NA19085,NA19087,NA19094,NA19114,NA19150,NA19198,NA19199,NA19201,NA19238,NA19240,NA19314,NA19334,NA19352,NA19448,NA19451,NA19452,NA19625,NA19716,NA19759,NA19760,NA19762,NA19780,NA19781,NA19795,NA19796,NA19818,NA19916,NA20126,NA20128,NA20301,NA20332,NA20337,NA20349,NA20364,NA20508,NA20515,NA20520,NA20524,NA20528,NA20534,NA20753,NA20765,NA20769,NA20775,NA20783,NA20786,NA20792,NA20805,NA20809,NA20810,NA20812,NA20818,NA20862,NA20869,NA20872,NA20874,NA20879,NA20904,NA20909,NA20911,NA21094,NA21107,NA21117,NA21307,NA21336,NA21339,NA21357,NA21381,NA21383,NA21385,NA21423,NA21425,NA21441,NA21442,NA21447,NA21448,NA21453,NA21486,NA21509,NA21524,NA21526,NA21527,NA21616,NA21632,NA21635,NA21636,NA21650,NA21678,NA21685,NA21741,NA21768 nsv442866 3 84782483 84784826 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC440970 nsv514157 3 84783248 84784840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627591 S 1414 0 1 LOC440970 nsv437865 3 84783402 84784165 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471285,nssv471287,nssv471284,nssv471289,nssv471286,nssv471288 M 269 0 6 Samples from several populations that are part of the HapMap project. LOC440970 NA18576,NA18948,NA18961,NA18964,NA18987,NA19003 nsv518474 3 84803050 84810830 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695910 S 2026 0 1 LOC440970 nsv877083 3 84803672 84901837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522049 S 6533 0 1 LOC440970 SP52704 nsv822171 3 84808352 84809030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429703 S 31 0 1 LOC440970 AK14 dgv5184n71 3 84861769 84901837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877084,nsv877088 M 6533 0 2 LOC440970 SP50063,SP57278 nsv460746 3 84861769 84916203 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537260 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC440970 HGDP00576 nsv877085 3 84861769 84993902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591651 S 6533 0 1 LOC440970 IS39011 nsv877086 3 84868399 84892040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518297 S 6533 0 1 LOC440970 SP57485 nsv877087 3 84868399 84901837 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511667,nssv1503104,nssv1504891,nssv1512793,nssv1517182 M 6533 1 4 LOC440970 SP51486,SP52858,SP55026,SP55630,SP57205 esv274009 3 84914730 84915124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580843,essv2579681 M 7 2 0 Samples from several populations that are part of the HapMap project. LOC440970 NA19238,NA19240 esv268227 3 84914781 84915138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494809,essv2508978,essv2508729,essv2497337,essv2494567,essv2497792,essv2500009,essv2499874,essv2506329,essv2511305,essv2500611,essv2494455,essv2500128,essv2508114,essv2508470,essv2509956,essv2496042,essv2499306,essv2501574,essv2512858,essv2507562,essv2513464,essv2509357,essv2511701,essv2497860,essv2502445,essv2512363,essv2497383,essv2495226,essv2509523,essv2498837,essv2501919,essv2502157 M 157 33 0 Samples from several populations that are part of the HapMap project. LOC440970 NA18519,NA18522,NA18532,NA18545,NA18550,NA18555,NA18558,NA18562,NA18566,NA18570,NA18571,NA18572,NA18573,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18907,NA18909,NA18940,NA18945,NA18948,NA18949,NA18959,NA18964,NA19129,NA19138,NA19239,NA19257 nsv516390 3 84936469 84956683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694655,nssv683693,nssv681410,nssv667965,nssv660106 M 2026 0 5 LOC440970 dgv5185n71 3 84953576 85041767 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877090,nsv877089,nsv877092 M 6533 0 3 LOC440970 IS31259,IS34599,IS39718 nsv877091 3 84958940 85151977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582319 S 6533 0 1 CADM2,LOC440970 IS35911 nsv471620 3 84963504 85114176 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550760,nssv550755,nssv550765,nssv550758,nssv550759,nssv550761,nssv550757,nssv550763,nssv550762,nssv550766,nssv550756,nssv550764,nssv550754 M 48 0 13 CADM2,LOC440970 JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10471,NA10473,NA10492,NA10494,NA10496,NA15726,P86GA nsv525508 3 84976358 84977702 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701640 S 2026 0 1 LOC440970 nsv508937 3 84996941 84996941 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618017 S 4 1 0 LOC440970 CHM nsv508938 3 85015693 85034738 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621210 S 4 1 0 "" NA15510 nsv3901 3 85025498 85037847 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3181,nssv11064,nssv312 M 9 3 0 "" NA12878,NA15510,NA19240 nsv238 3 85028769 85037847 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv238 S 1 1 0 "" NA15510 esv1009040 3 85033444 85044730 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564852 S 3 0 1 "" HuRef esv2277709 3 85040584 85041040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617263 S 1 0 1 "" NA18507 nsv237889 3 85040746 85040876 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256467 M 24 "" esv1577790 3 85040802 85040933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350850 S 2 0 1 "" HuRef dgv122n6 3 85040803 85040936 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236765,nsv236264 M 24 "" esv1009287 3 85040805 85040935 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571188 S 3 0 1 "" HuRef nsv525335 3 85041767 85046672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701450 S 2026 0 1 "" nsv877093 3 85184191 85276744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548627 S 6533 1 0 CADM2 MS17878 nsv877094 3 85207387 85336671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568328 S 6533 0 1 CADM2 IS31234 dgv5186n71 3 85245857 85386752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877099,nsv877097,nsv877095 M 6533 0 3 CADM2 IS31729,IS35742,IS36882 dgv5187n71 3 85245857 85449207 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877096,nsv877098 M 6533 0 2 CADM2 IS31145,MS15199 nsv460748 3 85276744 85385163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537261 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CADM2 HGDP00963 nsv470716 3 85276744 85399338 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547567 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CADM2 HGDP01060 nsv877100 3 85316889 85419249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499853,nssv1501784 M 6533 0 2 CADM2 SP50532,SP50921 esv2646105 3 85343321 85344831 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178160 S 1 0 1 CADM2 NA18507 esv1739393 3 85344666 85344666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126214 S 2 1 0 CADM2 HuRef nsv522622 3 85435647 85449207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706018 S 2026 0 1 CADM2 nsv526621 3 85553332 85750373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702941 S 2026 0 1 CADM2 nsv522784 3 85563414 85589921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698428 S 2026 0 1 CADM2 nsv527642 3 85634043 85702141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704112 S 2026 0 1 CADM2 esv268861 3 85659212 85659297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519324,essv2514044,essv2515326,essv2518504,essv2515126,essv2516587,essv2515719,essv2518037,essv2517579,essv2517192 M 157 10 0 Samples from several populations that are part of the HapMap project. CADM2 NA11894,NA12043,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12878,NA18970 esv272335 3 85659212 85659297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581369 S 7 1 0 Samples from several populations that are part of the HapMap project. CADM2 NA12878 nsv877101 3 85702141 85793026 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540602 S 6533 1 0 CADM2 MS14933 nsv822172 3 85704846 85705517 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421600 S 31 0 1 CADM2 NA18997 dgv5188n71 3 85722145 85785558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877102,nsv877103 M 6533 0 5 CADM2 IS31335,IS37999,MS10802,MS13292,MS25751 nsv877104 3 85729116 85820336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506578 S 6533 0 1 CADM2 SP54381 dgv610n27 3 85736123 85777677 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460752,nsv460750 M 1557 0 2 CADM2 HGDP01213,HGDP01238 nsv877105 3 85736123 85780304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532034 S 6533 0 1 CADM2 MS10699 esv273264 3 85746022 85746338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583987,essv2584802,essv2583740 M 7 3 0 Samples from several populations that are part of the HapMap project. CADM2 NA19238,NA19239,NA19240 esv270242 3 85746027 85746358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494142,essv2501164,essv2506216,essv2513236,essv2509284,essv2498762,essv2497632,essv2510481,essv2511993,essv2501857,essv2498100 M 157 11 0 Samples from several populations that are part of the HapMap project. CADM2 NA18502,NA18516,NA18523,NA18907,NA18909,NA19138,NA19147,NA19172,NA19238,NA19239,NA19240 nsv522825 3 85777677 85780304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698475 S 2026 0 1 CADM2 nsv460753 3 85871697 85903106 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537265 S 1557 0 1 CADM2 1782681093_A dgv5189n71 3 85897310 86119852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877107,nsv877106 M 6533 0 2 CADM2 IS31875,SP54030 esv1692963 3 85901018 85901070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835833 S 2 0 1 CADM2 HuRef dgv5190n71 3 85953053 86126914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877111,nsv877110,nsv877108 M 6533 0 4 CADM2 IS31302,IS31369,IS31729,MS10802 esv22210 3 85961329 85967662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10799 S 451 0 1 CADM2 NA12414 nsv877109 3 85974788 86088900 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579263,nssv1581963 M 6533 0 2 CADM2 IS35083,IS35771 dgv611n27 3 85999979 86088900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460755,nsv460754 M 1557 0 2 CADM2 1780854061_A,1782681169_A nsv470727 3 85999979 86126914 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547579 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CADM2 HGDP00356 nsv877112 3 86047427 86166406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528485 S 6533 0 1 CADM2 SP81251 nsv877113 3 86288366 86380777 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540603 S 6533 1 0 "" MS14933 esv1002069 3 86295880 86296764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565459 S 3 0 1 "" HuRef esv2881 3 86296043 86296457 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25322 S 1 0 1 Single Asian sample YH "" YH esv992835 3 86296093 86296409 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572379 S 3 0 1 "" HuRef nsv877114 3 86339962 86411651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551715 S 6533 0 1 "" MS18978 esv274879 3 86344203 86352840 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585605 S 1250 0 1 "" esv272562 3 86347591 86348502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580145,essv2580051 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv271569 3 86347600 86348551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507791,essv2500306,essv2494372,essv2504244,essv2509738,essv2496326,essv2501205,essv2493746,essv2506151,essv2503277,essv2494449,essv2512710,essv2508097,essv2505250,essv2505961,essv2507227,essv2494033,essv2507434,essv2500489,essv2497425,essv2501398,essv2497706,essv2502101 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA12751,NA12891,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18523,NA18542,NA18572,NA18577,NA18579,NA18853,NA18861,NA18870,NA18871,NA18912,NA18956,NA18959,NA19093,NA19147,NA19257 nsv877115 3 86361641 86637009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561676 S 6533 1 0 "" MS25181 esv2204070 3 86418602 86419065 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995103 S 1 0 1 "" NA18507 nsv834753 3 86469439 86629190 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442910 S 95 1 0 "" nsv526733 3 86567588 86583234 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703075 S 2026 1 0 "" nsv818154 3 86567588 86583234 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416225 S 112 1 0 "" NA12057 nsv877116 3 86601008 87047612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540604 S 6533 1 0 "" MS14933 dgv5191n71 3 86748098 87043808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877117,nsv877121,nsv877123,nsv877120,nsv877118,nsv877122,nsv877119 M 6533 0 7 "" IS31067,IS31166,IS31285,IS34896,IS35788,IS36219,MS13480 nsv524255 3 86793984 86797529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700152 S 2026 0 1 "" nsv527690 3 86793984 86877191 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704166 S 2026 1 0 "" nsv818155 3 86815507 86835104 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417750 S 112 1 0 "" NA19003 nsv877124 3 86842887 86879182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516644 S 6533 0 1 "" SP56886 dgv5192n71 3 86877191 87010264 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877125,nsv877126 M 6533 0 3 "" IS35498,IS41292,MS11237 nsv3902 3 86891064 86903822 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7835 S 9 0 1 "" NA12156 nsv518601 3 86913767 86914729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696047 S 2026 0 1 "" nsv519148 3 86913767 87077814 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696625 S 2026 1 0 VGLL3 dgv5193n71 3 86914729 87047612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877128,nsv877127,nsv877129 M 6533 0 3 "" IS31286,IS33846,MS21771 nsv527279 3 86928624 87945970 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703691 S 2026 1 0 CHMP2B,MIR4795,POU1F1,VGLL3 esv24210 3 86930978 86937879 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21028 S 451 0 2 "" NA19114,NA19190 nsv877130 3 86958148 87035206 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591475,nssv1566456,nssv1581964,nssv1537009,nssv1574430 M 6533 1 4 "" IS30742,IS33566,IS35771,IS38846,MS13062 nsv877131 3 86958148 87043808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579609 S 6533 0 1 "" IS35145 nsv508939 3 86986983 87010627 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621211 S 4 1 0 "" NA15510 esv2642098 3 86990494 86993870 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368058 S 1 0 1 "" NA18507 nsv834754 3 87137851 87299098 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442911 S 95 1 0 "" nsv3903 3 87176949 87221486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2403 S 9 0 1 "" NA18555 nsv460756 3 87193364 87319231 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537268 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00721 nsv470738 3 87193364 87324187 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547590 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00721 nsv877132 3 87324187 87440279 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568108 S 6533 0 1 CHMP2B,MIR4795,POU1F1 IS31205 esv2400633 3 87345900 87346549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784875 S 1 0 1 "" NA18507 nsv877133 3 87362778 87395837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500415,nssv1515809,nssv1499234 M 6533 0 3 CHMP2B,POU1F1 SP50073,SP50137,SP56289 nsv877134 3 87362778 87433110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551716 S 6533 0 1 CHMP2B,POU1F1 MS18978 nsv877135 3 87384085 87446270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522002 S 6533 0 1 CHMP2B,POU1F1 SP52694 nsv877136 3 87384085 87453972 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540605 S 6533 1 0 CHMP2B,POU1F1 MS14933 nsv470749 3 87390237 87434070 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547601 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations POU1F1 HGDP00875 nsv819731 3 87434921 87438426 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419553 S 2 0 1 "" AK1 esv2428001 3 87528614 87530207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345139 S 1 0 1 "" NA18507 esv2114753 3 87529119 87529656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863316 S 1 0 1 "" NA18507 esv3928 3 87529227 87529536 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26369 S 1 0 1 Single Asian sample YH "" YH nsv236736 3 87529307 87529472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255314 M 24 "" nsv525008 3 87530524 87530639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701045 S 2026 0 1 "" esv1942980 3 87565026 87565482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000261 S 1 0 1 "" NA18507 esv270927 3 87603135 87603220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515510,essv2515014,essv2517615,essv2516197,essv2518856,essv2513722 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12249,NA12812,NA12878,NA12891,NA19239 esv272767 3 87603142 87603287 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581784,essv2582547,essv2584510 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 esv1464287 3 87603173 87603173 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781320 S 2 1 0 "" HuRef nsv877137 3 87608230 87825437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531779 S 6533 0 1 "" MS10645 esv275543 3 87617807 87627830 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586179 S 1250 0 1 "" dgv5194n71 3 87668751 87862428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877138,nsv877139,nsv877141 M 6533 0 3 "" IS35083,IS35181,MS22959 nsv877140 3 87683326 87916587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532648 S 6533 0 1 "" MS10802 nsv834755 3 87707544 87872661 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442914,nssv1442912,nssv1442913 M 95 3 0 "" nsv877142 3 87713123 87936967 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540606,nssv1558738 M 6533 1 1 "" MS14933,MS23531 nsv877143 3 87713123 87942820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548628 S 6533 1 0 "" MS17878 esv271302 3 87733576 87733938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510281,essv2511178,essv2499389,essv2502503,essv2507770,essv2504990,essv2504276,essv2509005,essv2494578,essv2508229,essv2508150,essv2498568,essv2511692,essv2510419,essv2496988,essv2503595,essv2495822 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA10851,NA11931,NA11994,NA12750,NA12751,NA12828,NA18505,NA18522,NA18550,NA18561,NA18579,NA18858,NA18940,NA19172,NA19190 nsv509838 3 87760929 87766929 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623913,nssv621559 M 4 0 2 "" NA15510,NA18994 dgv5195n71 3 87773719 87928647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877145,nsv877144 M 6533 0 2 "" IS31205,SP57367 nsv3904 3 87814434 87848069 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3103 S 9 1 0 "" NA18555 nsv515607 3 87825437 87849425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678419,nssv664067,nssv677901,nssv655430,nssv686469 M 2026 0 5 "" nsv834756 3 87846483 88020869 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442915 S 95 0 1 "" nsv460757 3 87945970 88032423 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537269 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00041 nsv834758 3 87950053 88097665 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442916 S 95 1 0 "" esv27143 3 87972520 87984963 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19315 S 451 0 2 "" NA18508,NA18907 esv2421847 3 87974702 87984943 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029871,essv5029867,essv5147590,essv5082194,essv5054279,essv5096465,essv5012988,essv5138624,essv5022561,essv5142558,essv5062276,essv5131760,essv5155695,essv5025684,essv5113405,essv5126700,essv5044528,essv5063232 M 1184 0 18 "" NA18501,NA18508,NA18874,NA18875,NA19031,NA19121,NA19122,NA19123,NA19144,NA19197,NA19256,NA19258,NA19384,NA19385,NA19440,NA21115,NA21357,NA21476 nsv514158 3 87974952 87984952 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627593 S 1414 0 1 "" nsv441831 3 87974966 87984943 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv527929 3 88032423 88086502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704436 S 2026 0 1 "" nsv877146 3 88066652 88242525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570403 S 6533 0 1 CGGBP1,HTR1F IS31980 nsv818157 3 88084403 88086502 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415626 S 112 0 1 "" NA12248 nsv525814 3 88168323 88174233 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701999 S 2026 0 1 "" esv7463 3 88298195 88298914 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29904 S 1 0 0 "" SJK nsv877147 3 88411516 88514151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584018 S 6533 0 1 "" IS36787 nsv877148 3 88417001 88624272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578733 S 6533 0 1 "" IS34896 nsv522343 3 88424056 88434658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695123 S 2026 0 1 "" nsv3905 3 88439726 88472228 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7014 S 9 1 0 "" NA12156 dgv5196n71 3 88455026 88624272 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877153,nsv877149,nsv877152 M 6533 0 3 "" IS31335,IS33507,MS10802 dgv5197n71 3 88485610 88580724 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877151,nsv877150 M 6533 0 2 "" IS31302,IS37226 nsv877154 3 88520576 88666519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586758 S 6533 0 1 "" IS37974 esv5882 3 88536419 88536728 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28323 S 1 0 1 "" SJK esv2468772 3 88542119 88543594 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333452 S 1 0 1 "" NA18507 nsv877155 3 88545295 88624272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581965 S 6533 0 1 "" IS35771 nsv525281 3 88555212 88561356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701384 S 2026 0 1 "" esv272320 3 88560819 88560945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579015 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv822173 3 88564339 88565336 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431960 S 31 1 0 "" AK20 esv2049920 3 88567536 88567970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909455 S 1 0 1 "" NA18507 nsv237580 3 88567759 88567816 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256158 M 24 "" nsv523304 3 88619534 88620181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699044 S 2026 0 1 "" esv1357580 3 88653871 88653871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677866 S 2 1 0 "" HuRef nsv3906 3 88691916 88737240 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7836 S 9 0 1 "" NA12156 esv271084 3 88692276 88692443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512544,essv2507422,essv2506504,essv2509545 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18912,NA19108,NA19129 esv28642 3 88747445 88748600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19521 S 451 0 1 "" NA11993 nsv877156 3 88772853 88886216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591652 S 6533 0 1 "" IS39011 nsv877157 3 88772853 89057553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532225 S 6533 0 1 "" MS10737 nsv520602 3 88791024 88791604 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697513 S 2026 0 1 "" esv2341455 3 88977003 88977522 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528179 S 1 0 1 "" NA18507 nsv834759 3 88983919 89188056 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442917 S 95 1 0 "" nsv3907 3 89099554 89118390 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3182 S 9 1 0 "" NA12878 nsv877158 3 89101556 89185992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548629 S 6533 1 0 "" MS17878 nsv877159 3 89101556 89289912 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540607 S 6533 1 0 EPHA3 MS14933 nsv525314 3 89114130 89134165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701422 S 2026 0 1 "" nsv509839 3 89133644 89139644 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621560 S 4 0 1 "" NA15510 nsv877160 3 89134165 89217815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600140 S 6533 0 1 "" IS41848 nsv822174 3 89149566 89158804 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429704 S 31 0 1 "" AK14 nsv520982 3 89155216 89158745 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679143,nssv685185 M 2026 0 2 "" nsv834760 3 89168219 89382088 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442919 S 95 0 1 EPHA3 esv994167 3 89228466 89231652 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565767 S 3 1 0 "" HuRef nsv437866 3 89330571 89562955 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471292,nssv471293,nssv471291,nssv471294 M 269 0 3 Samples from several populations that are part of the HapMap project. EPHA3 NA12752,NA12761,NA19007 dgv1477e1 3 89343185 89353777 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1330,essv20537 M 271 0 0 EPHA3 NA11995 esv2156570 3 89343434 89343804 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910156 S 1 0 1 EPHA3 NA18507 esv268469 3 89389494 89389839 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558062,essv2565669,essv2540958,essv2546201,essv2521161,essv2526314,essv2522831,essv2545583,essv2523408,essv2577551,essv2548374,essv2535294,essv2544375,essv2552156,essv2529082,essv2578024,essv2553813,essv2564282,essv2537268,essv2528647,essv2546964,essv2540031,essv2557480,essv2556950,essv2552648,essv2562678,essv2569532,essv2536963,essv2538962,essv2569726,essv2562839,essv2549550,essv2519782,essv2532926,essv2541772,essv2553267,essv2569028,essv2556165,essv2528150,essv2522404,essv2575128,essv2526455,essv2524283,essv2574871,essv2530345,essv2571392,essv2551475,essv2536131,essv2537988,essv2554442 M 157 50 0 Samples from several populations that are part of the HapMap project. EPHA3 NA06986,NA07000,NA07346,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11931,NA12003,NA12004,NA12043,NA12045,NA12249,NA12414,NA12489,NA12749,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18507,NA18508,NA18517,NA18519,NA18520,NA18532,NA18564,NA18566,NA18576,NA18592,NA18605,NA18861,NA18871,NA18907,NA18960,NA19102,NA19114,NA19129,NA19138,NA19141,NA19238,NA19257 esv273850 3 89389496 89389751 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582101,essv2582717,essv2582881,essv2584282 M 7 4 0 Samples from several populations that are part of the HapMap project. EPHA3 NA12878,NA12891,NA12892,NA19238 nsv437790 3 89472197 89509279 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467671 S 60 0 1 Samples from several populations that are part of the HapMap project. EPHA3 NA12752 nsv10290 3 89473967 89502785 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29033 S 31 0 1 Samples from several populations that are part of the HapMap project. EPHA3 NA19007 esv26625 3 89476711 89500981 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10816 S 451 0 1 EPHA3 NA11894 esv33126 3 89476776 89500963 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94667,essv93996 M 51 0 2 EPHA3 21791,21802 esv2421597 3 89477282 89502071 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5058833,essv5068729,essv5081865,essv5026356,essv5097776,essv5082721,essv5035694,essv5071724,essv5055902,essv5039745,essv5063223,essv5052716,essv5019360,essv5145300,essv5095832,essv5028866,essv5093779,essv5053196,essv5063233,essv5130412,essv5106455,essv5123869,essv5083361,essv5147591,essv5056585,essv5106389,essv5107897,essv5153993,essv5035134,essv5019035,essv5125436,essv5080934 M 1184 0 32 EPHA3 NA10853,NA11843,NA11894,NA11920,NA12752,NA12761,NA18107,NA18135,NA18536,NA18630,NA19007,NA19650,NA19661,NA19662,NA19679,NA19685,NA19746,NA19748,NA19779,NA19818,NA20317,NA20527,NA20528,NA20755,NA20758,NA20774,NA20775,NA20778,NA20800,NA20810,NA20849,NA20904 nsv441832 3 89477282 89502071 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EPHA3 nsv514159 3 89484256 89500992 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627594 S 1414 0 1 EPHA3 dgv612n27 3 89485137 89499754 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460758,nsv460759 M 1557 0 2 EPHA3 1780862461_A,HGDP00735 nsv516852 3 89485137 89525059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654138,nssv682683,nssv678885,nssv693266,nssv651692,nssv685381,nssv659668,nssv688310,nssv659807,nssv679236,nssv687977,nssv669437,nssv669175,nssv658789,nssv675848,nssv679667,nssv668253,nssv653467,nssv685100,nssv679008,nssv672450,nssv672246,nssv683511,nssv666499,nssv670375,nssv673951,nssv656032,nssv677220,nssv652023,nssv692556,nssv652824,nssv681701,nssv691680,nssv662661,nssv677774,nssv658417,nssv655719,nssv658096,nssv655817,nssv683055,nssv682207,nssv668515,nssv674592,nssv662413,nssv676268,nssv656076,nssv677599,nssv669121,nssv693549,nssv683716,nssv671529,nssv665782,nssv662433,nssv684106,nssv675216,nssv659104,nssv667032,nssv655335,nssv665522,nssv664954,nssv678127,nssv679155,nssv653123,nssv683485,nssv672951,nssv678402,nssv682138,nssv687779,nssv678700,nssv670142,nssv673146,nssv682049,nssv666196,nssv671614,nssv682964,nssv681064,nssv686664,nssv675338,nssv673755,nssv671132,nssv682811,nssv676131,nssv680979,nssv661961,nssv674346,nssv664688,nssv662718,nssv691541,nssv686470,nssv693385,nssv677902,nssv671671,nssv658802,nssv660253,nssv669537,nssv692947,nssv676160,nssv686815,nssv686363,nssv652404,nssv693213,nssv680842,nssv651890,nssv688401,nssv658681,nssv655243,nssv679176,nssv660152,nssv683523,nssv667605,nssv660655,nssv686426,nssv662125,nssv678352,nssv681169,nssv654707,nssv664395 M 2026 0 117 EPHA3 nsv3908 3 89572978 89618156 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3183,nssv9622 M 9 0 2 EPHA3 NA12878,NA18507 esv2490848 3 89591421 89598777 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304434 S 1 0 1 EPHA3 NA18507 nsv435764 3 89591808 89600932 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466018 S 2 0 1 EPHA3 NA15510 nsv508227 3 89591844 89605863 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620212 S 4 0 1 EPHA3 NA15510 nsv513057 3 89592097 89598757 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626541 S 1 0 1 EPHA3 1 nsv499007 3 89592654 89598712 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585868 S 9 0 1 EPHA3 nsv527704 3 89617067 89626367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704183 S 2026 0 1 "" nsv441833 3 89619146 89629707 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1001156 3 89621357 89622470 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564368 S 3 1 0 "" HuRef nsv524781 3 89626367 89680369 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700772 S 2026 1 0 "" essv101798 3 89725277 89815082 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA19238 nsv3909 3 89727090 89778223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv313,nssv7015 M 9 0 2 "" NA12156,NA19240 nsv508228 3 89750560 89769934 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618715 S 4 0 1 "" NA10860 nsv10291 3 89752004 89761167 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11551,nssv28833 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA19240 dgv47n64 3 89752272 89758560 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818158,nsv818159 M 112 0 4 "" NA10860,NA10863,NA11992,NA12264 nsv437336 3 89752272 89767084 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467217 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv499008 3 89752734 89760778 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585869 S 9 0 1 "" esv25045 3 89752751 89760753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16205 S 451 0 2 "" NA12156,NA19240 nsv514160 3 89752792 89760528 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627595 S 1414 0 1 "" esv2422146 3 89753046 89758560 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016817,essv5025433,essv5052443,essv5120812,essv5065855,essv5022835,essv5011847,essv5046473,essv5055677,essv5021300,essv5032043,essv5057998,essv5023397,essv5121987,essv5027740,essv5082537,essv5106995,essv5091262,essv5100596,essv5061346,essv5113497,essv5104919,essv5119063,essv5039297,essv5150800,essv5022737,essv5034535 M 1184 0 27 "" NA10831,NA10863,NA11992,NA12156,NA12264,NA12752,NA12760,NA12767,NA12778,NA12818,NA12830,NA12877,NA12890,NA18913,NA19238,NA19240,NA19670,NA19671,NA19783,NA19795,NA20509,NA20512,NA20524,NA20586,NA20805,NA20813,NA20816 nsv460760 3 89753046 89758560 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537272 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00674 nsv516981 3 89753046 89758560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661986,nssv687700,nssv670273,nssv681488,nssv661176,nssv667662,nssv687075,nssv685586,nssv656937,nssv680676,nssv677029,nssv671239,nssv658097,nssv686053,nssv692247,nssv655866,nssv654526,nssv677701,nssv684321,nssv675837,nssv664412,nssv653548,nssv653454,nssv655336,nssv666400,nssv690726,nssv685252,nssv652873,nssv667690,nssv677410,nssv662565,nssv688504,nssv693294,nssv659038,nssv666371,nssv693550,nssv680939,nssv684460,nssv664318,nssv690659,nssv683195,nssv680599,nssv658154,nssv685009,nssv693039,nssv660841,nssv664829,nssv688964,nssv681723,nssv685442,nssv652967,nssv664185,nssv685402,nssv667548,nssv682850,nssv660476,nssv667578 M 2026 0 57 "" nsv442867 3 89754371 89756830 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv437867 3 89756519 89758560 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471295,nssv471296 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv818160 3 89756830 89758560 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416837,nssv1416838 M 112 0 2 "" NA19238,NA19240 esv2096881 3 89786562 89787001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676897 S 1 0 1 "" NA18507 nsv834761 3 89801198 89960025 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442920,nssv1442922,nssv1442921 M 95 2 1 "" esv269523 3 89806469 89806804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504303,essv2509102,essv2509161,essv2504869,essv2506843,essv2501892,essv2498155 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18522,NA18909,NA19099,NA19102,NA19239,NA19240 esv272338 3 89806494 89806759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580323 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv822175 3 89969915 89974738 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431961 S 31 0 1 "" AK20 esv2601215 3 90109361 90110946 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253185 S 1 0 1 "" NA18507 nsv834762 3 90362058 90521983 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442928,nssv1442923,nssv1442927,nssv1442925,nssv1442926,nssv1442924,nssv1442930,nssv1442931,nssv1442933,nssv1442934,nssv1442935,nssv1442932 M 95 12 0 "" esv23106 3 90362761 90587325 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10801 S 451 9 0 "" NA11995,NA12776,NA15510,NA18502,NA18505,NA18523,NA18858,NA18907,NA18916 nsv834763 3 90369344 90571847 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442938,nssv1442937,nssv1442936,nssv1442939 M 95 0 4 "" nsv820794 3 90395000 90587325 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420329 S 1 1 0 "" NA10851 nsv819576 3 90395744 90525615 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418840 S 2 0 1 "" AK1 nsv526870 3 90472437 90510976 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703228 S 2026 1 0 "" esv6948 3 90512772 90530631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29389 S 1 0 1 "" SJK esv2612629 3 90520615 90523961 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363046 S 1 0 1 "" NA18507 esv1409664 3 90534853 90534853 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057787 S 2 1 0 "" HuRef esv2445933 3 90541575 90542038 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274324 S 1 1 0 "" NA18507 esv1069082 3 90541940 90541940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697543 S 2 1 0 "" HuRef nsv513732 3 90556209 90562244 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626984 S 1 1 0 "" 1 nsv834764 3 95000971 95159856 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442941 S 95 0 1 PROS1 nsv877161 3 95019980 95085617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515821 S 6533 1 0 PROS1 SP56289 esv1470822 3 95042804 95042804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694692 S 2 1 0 "" HuRef nsv877162 3 95262354 95760768 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548630 S 6533 1 0 DHFRL1,NSUN3 MS17878 nsv877163 3 95278662 95530465 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548474 S 6533 1 0 NSUN3 MS17865 nsv436366 3 95435704 95441989 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466019 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv5198n71 3 95501347 95643426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877165,nsv877164 M 6533 0 2 "" IS38207,IS41964 nsv507107 3 95525795 95531795 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620767,nssv621709,nssv622859,nssv617608 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv519137 3 95538510 95540029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696615 S 2026 0 1 "" nsv877166 3 95573832 95629150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577095 S 6533 0 1 "" IS34358 nsv834765 3 95599276 95804465 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442942 S 95 1 0 "" esv2516525 3 95636684 95638028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349843 S 1 0 1 "" NA18507 nsv822177 3 95688519 95702105 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434327 S 31 0 1 "" NA18570 nsv509840 3 95705209 95711209 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618579,nssv623914 M 4 0 2 "" CHM,NA18994 nsv834766 3 95715217 95848474 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442943 S 95 1 0 "" nsv508940 3 95717128 95769401 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621212 S 4 1 0 "" NA15510 esv259921 3 95776879 95781329 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399924,essv2399296 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA19102 esv274630 3 95831439 95831721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580170,essv2580403,essv2579943,essv2579163 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 nsv460763 3 95867022 96078762 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537274 S 1557 1 0 "" 1780862081_A nsv877167 3 95913120 96037410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561870 S 6533 1 0 "" MS25269 nsv877168 3 95913120 96097023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594121 S 6533 0 1 "" IS39716 nsv460764 3 95962539 96136871 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537275 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00232 esv22310 3 95995043 95996371 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21110,esv11542 M 451 0 8 "" NA11931,NA12004,NA12156,NA18502,NA18508,NA19114,NA19147,NA19190 nsv822178 3 95995117 95996635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430480 S 31 1 0 "" AK16 nsv508941 3 96106663 96135223 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621213,nssv619334 M 4 2 0 "" NA10860,NA15510 esv2602696 3 96109374 96110819 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273304 S 1 0 1 "" NA18507 esv2443975 3 96129513 96133959 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355063 S 1 0 1 "" NA18507 esv1154163 3 96131351 96131351 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685229 S 2 1 0 "" HuRef esv1218885 3 96131409 96131409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358863 S 2 1 0 "" HuRef esv1277309 3 96131412 96131412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260347 S 2 1 0 "" HuRef esv1408309 3 96131436 96131436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946953 S 2 1 0 "" HuRef esv1744708 3 96131460 96131460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743064 S 2 1 0 "" HuRef nsv877169 3 96158387 96323544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534937 S 6533 0 1 LOC255025 MS11836 nsv822179 3 96221595 96222199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431962 S 31 0 1 "" AK20 nsv877170 3 96273356 97047528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577467 S 6533 0 1 "" IS34468 dgv5199n71 3 96280421 96426183 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877171,nsv877172 M 6533 0 2 "" MS10802,SP55878 nsv877173 3 96295810 96387404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548631 S 6533 1 0 "" MS17878 nsv460765 3 96320418 96387404 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537276 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00133 nsv507108 3 96329625 96335625 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622860,nssv621710,nssv620214 M 4 3 0 "" NA10860,NA15510,NA18994 nsv518266 3 96348647 96351010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695696 S 2026 0 1 "" nsv877174 3 96349812 96466590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537658 S 6533 0 1 "" MS13292 nsv877175 3 96352251 96693563 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528045 S 6533 1 0 "" SP81109 nsv834767 3 96454759 96630725 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442944 S 95 1 0 "" nsv834769 3 96523639 96684924 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442945 S 95 1 0 "" esv2513392 3 96598431 96600012 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327119 S 1 0 1 "" NA18507 nsv521376 3 96598522 96599639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697986 S 2026 0 1 "" nsv525564 3 96598522 96605570 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701703 S 2026 0 1 "" esv2095947 3 96598703 96599407 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864649 S 1 0 1 "" NA18507 esv5422 3 96598836 96599339 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27863 S 1 0 1 Single Asian sample YH "" YH dgv109e180 3 96598848 96599246 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994329,esv999847 M 3 0 1 "" HuRef nsv237648 3 96603908 96609472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256226 M 24 "" nsv877176 3 96608609 96793533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569867 S 6533 0 1 "" IS31729 nsv877177 3 96627089 96748333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517726 S 6533 0 1 "" SP57367 dgv5200n71 3 96646248 96886631 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877180,nsv877178 M 6533 0 4 "" IS31285,MS10802,MS12071,SP54030 nsv877179 3 96702481 96827589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546069 S 6533 0 1 "" MS17114 dgv5201n71 3 96702481 96953032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877182,nsv877181 M 6533 0 2 "" IS31302,IS35083 dgv5202n71 3 96753173 97926792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877183,nsv877184 M 6533 0 2 "" IS32166,IS39011 esv272438 3 96754044 96754396 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579042,essv2579437 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271408 3 96754053 96754136 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2569213,essv2569676,essv2527072,essv2575740,essv2560898,essv2572713,essv2560358,essv2549660,essv2545904,essv2574297 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18520,NA18522,NA19099,NA19137,NA19143,NA19190,NA19225,NA19239,NA19240 dgv1478e1 3 96766457 96876444 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21769,esv11 M 271 0 0 "" NA12239 nsv3911 3 96807290 96853074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7016 S 9 0 1 "" NA12156 dgv5203n71 3 96856913 96933640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877185,nsv877187,nsv877186 M 6533 0 3 "" SP55847,SP57367,SP57379 nsv834770 3 96928366 97089513 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442946 S 95 0 1 "" nsv511223 3 96938735 96953742 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624378 S 1 0 1 "" 1 nsv513058 3 96948401 96950887 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626542 S 1 0 1 "" 1 esv1008149 3 96948451 96951093 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564237 S 3 0 1 "" HuRef esv997543 3 96948570 96950820 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586574 S 3 0 1 "" HuRef esv21672 3 96948570 96950999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13109 S 451 0 20 "" NA07037,NA11993,NA12004,NA12006,NA12044,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18517,NA18523,NA18861,NA18907,NA19147,NA19225,NA19240,NA19257 nsv822180 3 96969687 96970302 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421601 S 31 1 0 "" NA18997 esv274193 3 97000662 97000862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584540,essv2583780 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 dgv5204n71 3 97002332 97321397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877189,nsv877188 M 6533 0 2 "" IS31137,MS15199 nsv834771 3 97104679 97228441 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442947 S 95 0 1 "" nsv520553 3 97107157 99212018 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697482 S 2026 1 0 ARL6,EPHA6,GABRR3,MINA nsv877190 3 97118452 97267562 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575361 S 6533 1 0 "" IS33721 dgv5205n71 3 97118452 97321397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877191,nsv877193,nsv877192 M 6533 0 3 "" IS32615,IS37226,IS41113 esv271182 3 97137070 97137388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510180,essv2506757,essv2511202,essv2505123,essv2512466,essv2495324,essv2510324,essv2494175,essv2504081,essv2503010,essv2506150,essv2494570,essv2505704,essv2495714,essv2503466,essv2502418,essv2512357,essv2493119,essv2505400,essv2500571,essv2505591,essv2504847,essv2506425,essv2499105,essv2509634,essv2497705,essv2499626 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11918,NA11931,NA11995,NA12043,NA12287,NA12414,NA18502,NA18505,NA18507,NA18523,NA18550,NA18861,NA18916,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA19005,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225 esv2422063 3 97181771 97196039 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5118534,essv5066508,essv5059269,essv5017904,essv5125150,essv5138255,essv5135246,essv5120448,essv5071296,essv5053701,essv5077536,essv5115582,essv5098015,essv5067703,essv5041997,essv5123669,essv5048481,essv5071222,essv5046382,essv5060296,essv5155008,essv5062074,essv5052157,essv5020214,essv5128802,essv5118907,essv5051341,essv5013312,essv5141709,essv5157717,essv5157111,essv5002814,essv5104251 M 1184 0 33 "" NA18874,NA19038,NA19041,NA19113,NA19114,NA19176,NA19334,NA19381,NA19391,NA19472,NA19625,NA20343,NA20346,NA20347,NA20357,NA20358,NA21295,NA21297,NA21316,NA21317,NA21344,NA21362,NA21366,NA21382,NA21434,NA21454,NA21488,NA21528,NA21582,NA21587,NA21597,NA21617,NA21738 esv23064 3 97181778 97197461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10633 S 451 0 1 "" NA19114 nsv460766 3 97184873 97196039 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537277 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00930 nsv517518 3 97184873 97196039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686625,nssv704140,nssv690259,nssv654041,nssv688889,nssv664088,nssv667470,nssv675266,nssv661449,nssv681129,nssv669515,nssv666830,nssv693577,nssv691030 M 2026 0 14 "" dgv5206n71 3 97196039 97321397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877195,nsv877194 M 6533 0 3 "" IS31041,IS35911,IS41224 nsv877196 3 97205830 97243616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508045 S 6533 0 1 "" SP54579 esv1166720 3 97206227 97206227 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959734 S 2 1 0 "" HuRef nsv236829 3 97206526 97206770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255407 M 24 "" esv1692368 3 97206534 97206534 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687724 S 2 1 0 "" HuRef nsv236221 3 97206771 97206771 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254799 M 24 "" nsv460767 3 97331874 97363067 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537278 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01015 nsv877197 3 97400001 97523082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567644,nssv1565926,nssv1541101 M 6533 0 3 "" IS30539,IS31137,MS15199 nsv527856 3 97434286 97493367 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704354 S 2026 1 0 "" nsv877198 3 97440633 97523082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534100 S 6533 0 1 "" MS11467 dgv5207n71 3 97440633 97551489 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877199,nsv877200 M 6533 0 2 "" IS31837,MS25617 nsv3912 3 97452484 97498058 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7017 S 9 0 1 "" NA12156 nsv877201 3 97467151 97623340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548102 S 6533 0 1 "" MS17697 nsv470760 3 97474308 97528441 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547612 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01397 esv2053278 3 97485108 97485524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613693 S 1 0 1 "" NA18507 nsv522087 3 97668244 97780070 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694859 S 2026 1 0 "" esv273706 3 97681288 97681591 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579075 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv515682 3 97786578 97800454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673515,nssv662702,nssv671419,nssv664371,nssv686364,nssv660477,nssv693317,nssv677481 M 2026 0 8 "" esv1289556 3 97822121 97822121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857818 S 2 1 0 "" HuRef esv1692047 3 97822268 97822418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592472 S 2 0 1 "" HuRef esv1510823 3 97823490 97823490 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641849 S 2 1 0 "" HuRef nsv822181 3 97978855 97979792 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421602 S 31 0 1 "" NA18997 esv26708 3 98014734 98016629 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20440 S 451 0 1 EPHA6 NA12156 esv268715 3 98079150 98079501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512951,essv2497816,essv2500011,essv2504591,essv2500103,essv2508151,essv2508462,essv2501633,essv2502387,essv2502628,essv2505595,essv2499706,essv2502193 M 157 13 0 Samples from several populations that are part of the HapMap project. EPHA6 NA18547,NA18555,NA18558,NA18563,NA18573,NA18579,NA18582,NA18608,NA18948,NA18965,NA19005,NA19225,NA19257 esv269448 3 98116491 98116625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509468,essv2498827,essv2499634,essv2502024 M 157 4 0 Samples from several populations that are part of the HapMap project. EPHA6 NA19129,NA19138,NA19225,NA19257 esv268243 3 98136336 98136675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496329,essv2513379 M 157 2 0 Samples from several populations that are part of the HapMap project. EPHA6 NA18510,NA18907 esv2642819 3 98168737 98169216 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333021 S 1 0 1 EPHA6 NA18507 dgv292n21 3 98239013 98336809 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522959,nsv525805 M 2026 0 2 EPHA6 esv267781 3 98286851 98286936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515134 S 157 1 0 Samples from several populations that are part of the HapMap project. EPHA6 NA12812 nsv877202 3 98301260 98412127 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530367 S 6533 1 0 EPHA6 MS10301 nsv3913 3 98422613 98455817 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5976 S 9 1 0 EPHA6 NA19129 nsv877203 3 98462037 98666131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588343 S 6533 0 1 EPHA6 IS38183 nsv10292 3 98564670 98688552 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11581,nssv29191 M 31 0 2 Samples from several populations that are part of the HapMap project. EPHA6 NA10839,NA19240 nsv877204 3 98588242 98814931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578335 S 6533 0 1 EPHA6 IS34760 nsv834772 3 98649728 98818768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442948 S 95 1 0 EPHA6 nsv877205 3 98689583 98853220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556422 S 6533 0 1 EPHA6 MS22008 esv8320 3 98694857 98694910 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30761 S 1 1 0 EPHA6 SJK esv33674 3 98698309 98704967 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100782 S 51 0 1 EPHA6 21656 dgv1479e1 3 98699482 98904950 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17505,essv904,essv6621,essv15051,essv18396,essv4848,esv29,essv20932,essv19948,essv9468,essv2886 M 271 0 0 EPHA6 NA12249,NA12762,NA12801,NA12813,NA18540,NA18621,NA18953,NA19000,NA19129,NA19208 nsv428419 3 98699482 98904950 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454272 S 62 1 0 EPHA6 NA19113 nsv877206 3 98774726 98853220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594168 S 6533 0 1 EPHA6 IS39718 esv2576077 3 98791373 98792950 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316137 S 1 0 1 EPHA6 NA18507 esv33274 3 98873132 98873621 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99345 S 51 1 0 EPHA6 22275 esv2532432 3 98917176 98918804 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187702 S 1 0 1 EPHA6 NA18507 esv2057806 3 98917604 98918317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760681 S 1 0 1 EPHA6 NA18507 nsv822182 3 98965732 98966456 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431964 S 31 0 1 ARL6 AK20 nsv877207 3 99191645 99381984 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519583 S 6533 1 0 GABRR3,OR5AC2,OR5H1,OR5H14,OR5H15 SP81097 nsv509841 3 99195213 99201213 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618580 S 4 0 1 GABRR3 CHM nsv877208 3 99223614 99258059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573632,nssv1552821,nssv1532652 M 6533 0 3 GABRR3 IS33475,MS10802,MS19634 nsv470772 3 99229541 99261434 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547634,nssv547623 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GABRR3 HGDP01216,HGDP01224 esv1955753 3 99246851 99247297 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977547 S 1 0 1 "" NA18507 esv21899 3 99272156 99277400 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19266 S 451 1 0 "" NA19099 esv2303218 3 99275699 99276072 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566180 S 1 0 1 "" NA18507 nsv877209 3 99289306 99532099 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548632 S 6533 1 0 OR5AC2,OR5H1,OR5H14,OR5H15,OR5H2,OR5H6 MS17878 nsv460768 3 99335849 99373057 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537279 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR5H14,OR5H15 HGDP01297 nsv834773 3 99338052 99526578 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442949 S 95 1 0 OR5H14,OR5H15,OR5H2,OR5H6 nsv877210 3 99348867 99475654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598748 S 6533 0 1 OR5H14,OR5H15,OR5H6 IS41113 esv2566065 3 99356132 99414221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236553 S 1 0 1 OR5H15 NA18507 esv5601 3 99357219 99413915 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28042 S 1 0 1 OR5H15 SJK nsv513059 3 99357765 99415643 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626544 S 1 0 1 OR5H15 1 nsv436873 3 99364919 99400845 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466020 S 2 1 0 Samples from several populations that are part of the HapMap project. OR5H15 NA18505 nsv442868 3 99370181 99402053 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 OR5H15 esv24343 3 99373716 99422083 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19096,esv13637,esv19824,esv20358,esv13073,esv13127,esv11939,esv18642,esv14003 M 451 17 0 "" NA07045,NA11993,NA11995,NA12006,NA12044,NA12156,NA12414,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18517,NA18523,NA19147,NA19240 esv2428250 3 99391635 99399641 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257487 S 1 0 1 "" NA18507 nsv512807 3 99397316 99398143 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625441 S 1 1 0 "" 1 nsv877211 3 99402053 99440970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579266 S 6533 0 1 "" IS35083 nsv877212 3 99413795 99516090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583729 S 6533 0 1 OR5H2,OR5H6 IS36640 nsv520979 3 99416931 99419735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681411,nssv679130,nssv703517 M 2026 0 3 "" nsv877213 3 99456360 99475654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499452 S 6533 0 1 OR5H6 SP50574 nsv522368 3 99476958 99477853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695148 S 2026 0 1 "" esv34138 3 99517374 99528617 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" dgv293n21 3 99583791 99800526 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520503,nsv528056 M 2026 0 2 CLDND1,CPOX,GPR15,OR5K1,OR5K2,OR5K3 nsv834774 3 99591113 99756754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442950 S 95 0 1 CLDND1,GPR15,OR5K1,OR5K2,OR5K3 esv1081763 3 99600755 99600755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845672 S 2 1 0 "" HuRef nsv834775 3 99652749 99850242 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442952,nssv1442953 M 95 2 0 CLDND1,CPOX,GPR15,OR5K1,OR5K2 nsv236502 3 99732736 99737314 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255080 M 24 GPR15 nsv524042 3 99800526 99918878 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699906 S 2026 1 0 "" esv1501652 3 99809987 99809987 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247531 S 2 1 0 "" HuRef esv272197 3 99857711 99858055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579087,essv2579555 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268310 3 99857728 99857813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517945,essv2518989,essv2518904 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA19141,NA19239 nsv437801 3 99877907 99899590 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467682 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA06991 nsv508942 3 99879704 99897458 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619336,nssv620768 M 4 2 0 "" NA10860,NA15510 nsv821582 3 99892445 99898607 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420330 S 1 0 1 "" NA10851 nsv822183 3 99892445 99898607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422506,nssv1424884,nssv1428172,nssv1431965,nssv1435777,nssv1436493,nssv1421603,nssv1430481,nssv1427403,nssv1433557,nssv1431217 M 31 0 11 "" AK10,AK16,AK18,AK2,AK20,AK8,NA18526,NA18542,NA18552,NA18566,NA18997 dgv816n67 3 99892817 99897494 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822186,nsv822184,nsv822188 M 31 3 0 "" AK4,AK6,NA18582 esv25311 3 99892939 99897570 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14370 S 451 22 6 "" NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240,NA19257 nsv513060 3 99893031 99898821 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626545 S 1 0 1 "" 1 nsv822185 3 99893285 99897449 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437353,nssv1432740,nssv1424975,nssv1434990,nssv1429706,nssv1439593,nssv1440264,nssv1440970,nssv1438069,nssv1425435,nssv1438985,nssv1423284 M 31 4 8 "" AK14,NA18537,NA18547,NA18564,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18999 esv33580 3 99893514 99897268 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97500,essv101162,essv94778,essv95266,essv95891,essv92924,essv92824,essv93689,essv100108,essv93300,essv99262 M 51 3 8 "" 21616,21618,21791,21872,21911,21939,21944,21972,22086,22170,22275 nsv437868 3 99893739 99894341 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471307,nssv471326,nssv471336,nssv471320,nssv471337,nssv471321,nssv471305,nssv471329,nssv471316,nssv471325,nssv471334,nssv471328,nssv471322,nssv471330,nssv471333,nssv471300,nssv471332,nssv471318,nssv471310,nssv471306,nssv471309,nssv471315,nssv471340,nssv471338,nssv471314,nssv471311,nssv471323,nssv471308,nssv471331,nssv471299,nssv471341,nssv471297,nssv471298,nssv471303,nssv471327,nssv471319,nssv471302,nssv471339,nssv471304,nssv471342,nssv471317 M 269 0 41 Samples from several populations that are part of the HapMap project. "" NA07034,NA07048,NA10839,NA11831,NA11840,NA11995,NA12006,NA12155,NA12239,NA12761,NA12763,NA12802,NA12814,NA12875,NA12878,NA12891,NA12892,NA18561,NA18564,NA18579,NA18593,NA18609,NA18621,NA18635,NA18636,NA18942,NA18945,NA18948,NA18949,NA18951,NA18952,NA18968,NA18969,NA18971,NA18976,NA18987,NA18990,NA18999,NA19007,NA19160,NA19161 esv259762 3 99911438 99911719 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397716,essv2396598,essv2394660,essv2398321,essv2395140 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18507,NA18870,NA19093,NA19108 esv1351276 3 99911597 99911597 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221654 S 2 1 0 "" HuRef nsv470783 3 99913915 99948912 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547645 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ST3GAL6 HGDP00874 nsv524353 3 99918878 99922327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700262 S 2026 0 1 "" esv995202 3 99919014 99923337 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564791 S 3 1 0 "" HuRef nsv877214 3 99928014 100220696 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548633 S 6533 1 0 DCBLD2,ST3GAL6 MS17878 nsv509842 3 100053745 100059745 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618581 S 4 0 1 DCBLD2 CHM esv2606873 3 100083915 100085506 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297329 S 1 0 1 DCBLD2 NA18507 esv2509653 3 100208879 100209796 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377269 S 1 1 0 "" NA18507 esv24213 3 100209239 100219091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18056 S 451 0 1 "" NA19225 esv270284 3 100209429 100209753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565701,essv2546361,essv2542530,essv2536690,essv2543900,essv2556785,essv2568385,essv2523415,essv2577526,essv2570754,essv2548421,essv2521671,essv2576887,essv2525378,essv2535194,essv2553916,essv2544476,essv2552176,essv2520418,essv2547351,essv2558494,essv2564572,essv2577842,essv2553752,essv2576213,essv2520256,essv2564251,essv2555144,essv2562035,essv2537400,essv2528395,essv2546935,essv2530477,essv2557373,essv2552688,essv2532169,essv2578619,essv2550176,essv2539049,essv2527123,essv2544888,essv2523643,essv2541242,essv2542717,essv2540399,essv2524654,essv2564847,essv2534546,essv2549326,essv2519699,essv2559773,essv2521975,essv2566165,essv2532594,essv2528673,essv2567515,essv2541598,essv2570128,essv2553431,essv2572361,essv2559403,essv2566850,essv2541933,essv2568904,essv2543448,essv2556287,essv2527964,essv2562232,essv2539309,essv2534124,essv2578409,essv2572959,essv2533539,essv2555615,essv2557687,essv2531474,essv2573734,essv2529459,essv2575439,essv2575002,essv2538600,essv2526495,essv2560774,essv2524065,essv2560929,essv2574720,essv2530408,essv2568792,essv2560273,essv2571466,essv2546022,essv2574066,essv2551424,essv2536231,essv2537961,essv2533318,essv2554711,essv2525100,essv2563130 M 157 99 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07357,NA10847,NA11829,NA11881,NA11919,NA11920,NA11992,NA11994,NA11995,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18486,NA18499,NA18502,NA18505,NA18510,NA18511,NA18519,NA18522,NA18526,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18953,NA18961,NA18964,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv273529 3 100209431 100209753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582121,essv2582602,essv2582941,essv2584245,essv2584776,essv2583605 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1603879 3 100209466 100209466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891689 S 2 1 0 "" HuRef nsv507109 3 100226799 100232799 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621711,nssv620215,nssv622861,nssv617609 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv460769 3 100249016 100287098 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537280 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00148 nsv3914 3 100255282 100285826 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10353 S 9 1 0 "" NA18956 esv270923 3 100258162 100264239 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571622,essv2540163,essv2520840,essv2557163,essv2532039,essv2562623,essv2569503,essv2550000,essv2536871,essv2539020,essv2542077,essv2569114,essv2556202,essv2562367,essv2575270,essv2538814,essv2526445,essv2560577,essv2560887,essv2574830,essv2560417,essv2549799,essv2551603 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA18489,NA18498,NA18501,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18856,NA18861,NA18871,NA18909,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19190,NA19225,NA19257 nsv877215 3 100287098 100367389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581630 S 6533 0 1 "" IS35675 esv271215 3 100337449 100337534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518603 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv3915 3 100375358 100422743 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3184,nssv7837 M 9 0 2 "" NA12156,NA12878 nsv818161 3 100378076 100378340 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417841 S 112 1 0 "" NA18852 nsv433343 3 100378076 100383829 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463224 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv508229 3 100379221 100401276 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617478,nssv622465,nssv619918 M 4 0 3 "" CHM,NA15510,NA18994 esv2550503 3 100379574 100387037 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257724 S 1 0 1 "" NA18507 esv2639651 3 100381349 100385957 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379585 S 1 0 1 "" NA18507 esv2136316 3 100381564 100385227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717481 S 1 0 1 "" NA18507 esv1005467 3 100381672 100385837 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563866 S 3 0 1 "" HuRef dgv34n50 3 100381676 100385601 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511215,nsv513061 M 1 0 1 "" 1 dgv817n67 3 100381712 100385095 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822189,nsv822190 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv820430 3 100381712 100385095 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420331 S 1 0 1 "" NA10851 esv7281 3 100381713 100385139 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29722 S 1 0 1 "" SJK esv2889 3 100381723 100385131 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25330 S 1 0 1 Single Asian sample YH "" YH nsv820030 3 100381741 100393001 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418605 S 2 1 0 "" AK1 esv1428769 3 100381750 100385079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274839 S 2 0 1 "" HuRef nsv499009 3 100381750 100385083 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585870 S 9 0 1 "" nsv238026 3 100381754 100385082 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256604 M 24 "" nsv514161 3 100381768 100384848 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627596 S 1414 0 1 "" esv28946 3 100381786 100385095 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15255 S 451 19 0 "" NA11894,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12287,NA12828,NA18508,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19240 nsv822191 3 100382797 100384758 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432743 S 31 0 1 "" NA18972 esv268876 3 100389155 100389429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565472 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv270658 3 100394935 100395339 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494203,essv2496568,essv2493828,essv2513259,essv2510814,essv2498825,essv2502262 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18517,NA18907,NA19116,NA19138,NA19257 esv2625751 3 100403036 100404653 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278229 S 1 0 1 "" NA18507 nsv508230 3 100416677 100452226 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617479 S 4 0 1 "" CHM nsv10293 3 100419669 100433587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11469,nssv28290,nssv12218,nssv28829,nssv29220 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12155,NA12740,NA12802 dgv35n50 3 100426169 100433337 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511231,nsv513062 M 1 0 1 "" 1 esv29121 3 100426286 100432358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11680 S 451 0 9 "" NA11894,NA11993,NA11995,NA12006,NA12287,NA12489,NA12776,NA12828,NA12878 nsv437869 3 100426700 100430538 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471344,nssv471345,nssv471343 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10855,NA11831 esv2421596 3 100427148 100432111 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5159436,essv5127597,essv5033150,essv5097288,essv5121799,essv5128146,essv5097813,essv5081632,essv5107678,essv5010541,essv5126575,essv5110177,essv5111059,essv5034562,essv5025320,essv5152445,essv5089716,essv5091517,essv5038449,essv5153517,essv5099834,essv5048362,essv5143339,essv5046035,essv5122684,essv5097780,essv5006479,essv5082373,essv5066809,essv5021325,essv5072650,essv5022213,essv5027003,essv5069490,essv5050434,essv5148098,essv5004971,essv5153732,essv5083596,essv5052955,essv5047018,essv5105013,essv5012692,essv5133222,essv5100809,essv5014283,essv5072429,essv5028226,essv5037185,essv5072361,essv5144084,essv5009770,essv5112911,essv5124134,essv5017524,essv5077071,essv5112058,essv5055039,essv5052509,essv5104746,essv5050837,essv5105358,essv5045028,essv5012651,essv5106966,essv5148854,essv5129195,essv5080832,essv5085558,essv5082677,essv5076715,essv5055848,essv5099930,essv5052652,essv5008381,essv5130054,essv5020469,essv5061025,essv5066658,essv5154152,essv5123126,essv5016364,essv5063999,essv5069369,essv5047642,essv5044099,essv5012580,essv5146349,essv5061218,essv5070216,essv5118915,essv5146053,essv5135334,essv5070992,essv5096337,essv5039203,essv5060209,essv5036833,essv5098603,essv5035800,essv5123920,essv5105312,essv5017938,essv5069155,essv5111456,essv5022246,essv5134708,essv5094440,essv5042919,essv5075023,essv5104019,essv5059095,essv5093288,essv5113711,essv5138418,essv5005379,essv5042083,essv5019967,essv5018541,essv5038951,essv5102406,essv5085400,essv5021303,essv5013275,essv5013156,essv5160302,essv5033534,essv5055228,essv5018099,essv5034945,essv5073804,essv5124594,essv5122452,essv5096361,essv5068011,essv5156050,essv5145693,essv5062445,essv5003277,essv5106339,essv5065666,essv5107904,essv5115073,essv5067716,essv5125445,essv5127430,essv5150192,essv5034254,essv5144381,essv5076487,essv5044883,essv5158955,essv5102271,essv5118868,essv5055586,essv5095415,essv5005010,essv5034651,essv5025735,essv5039004,essv5081192,essv5094028,essv5065283,essv5101884,essv5006259,essv5148248 M 1184 0 166 "" NA06986,NA07000,NA07022,NA07029,NA07051,NA07055,NA07345,NA07348,NA07357,NA10831,NA10836,NA10837,NA10840,NA10854,NA10855,NA10861,NA10864,NA11831,NA11832,NA11840,NA11881,NA11894,NA11917,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12144,NA12155,NA12234,NA12272,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12343,NA12376,NA12400,NA12413,NA12489,NA12546,NA12740,NA12748,NA12750,NA12752,NA12760,NA12761,NA12762,NA12766,NA12775,NA12776,NA12802,NA12813,NA12814,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12873,NA12878,NA12890,NA12891,NA18154,NA19321,NA19431,NA19449,NA19649,NA19669,NA19676,NA19712,NA19716,NA19722,NA19726,NA19727,NA19762,NA19763,NA19770,NA19772,NA19773,NA19775,NA19777,NA19782,NA19784,NA19794,NA19796,NA20504,NA20508,NA20510,NA20517,NA20519,NA20525,NA20531,NA20538,NA20539,NA20540,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20589,NA20754,NA20755,NA20760,NA20761,NA20768,NA20769,NA20771,NA20773,NA20774,NA20783,NA20785,NA20786,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20805,NA20808,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20898,NA20909,NA20910,NA21097,NA21101,NA21104,NA21108,NA21119,NA21295,NA21353,NA21391,NA21399,NA21405,NA21421,NA21454,NA21455,NA21475,NA21477,NA21485,NA21487,NA21488,NA21490,NA21611,NA21631,NA21716,NA21741 nsv442869 3 100427148 100432111 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516029 3 100428761 100430538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682847,nssv668251,nssv689900,nssv652561,nssv656923,nssv659942,nssv676153,nssv670803,nssv673144,nssv681002,nssv664875,nssv652430,nssv681445,nssv657874,nssv670074,nssv675413,nssv691229,nssv685336,nssv685601,nssv657189,nssv669533,nssv688397,nssv653120,nssv664290,nssv677643,nssv672679,nssv674953,nssv683483,nssv659128,nssv665057,nssv690482,nssv690608,nssv683225,nssv682026,nssv677850,nssv679339,nssv662298,nssv671612,nssv655828,nssv673449,nssv687217,nssv680047,nssv677058,nssv652477,nssv693604,nssv658841,nssv683714,nssv689148,nssv673513,nssv668703,nssv687053,nssv683562,nssv656731,nssv685878,nssv652802,nssv659036,nssv693292,nssv656235,nssv654380,nssv656476,nssv657347,nssv653748,nssv691295,nssv682178,nssv660718,nssv667797,nssv659805,nssv675062,nssv674344,nssv686466,nssv683675,nssv664166,nssv659167,nssv672570,nssv668133,nssv667202,nssv668387,nssv663323,nssv660869,nssv651675,nssv678397,nssv668410,nssv670559,nssv666696,nssv681258,nssv670208,nssv682112,nssv693857,nssv675526,nssv672217,nssv661472,nssv679760,nssv679843,nssv674219,nssv689489,nssv694036,nssv656012,nssv674371,nssv657819,nssv672140,nssv658856,nssv693470,nssv660754,nssv654479,nssv681698,nssv652311,nssv684867,nssv687851,nssv688124,nssv682755,nssv651987,nssv680653,nssv686359,nssv676826,nssv654345,nssv662431,nssv686025,nssv676012,nssv655715,nssv691310,nssv689425,nssv682562,nssv676447,nssv678418,nssv686423,nssv667383,nssv685583,nssv691066,nssv688161,nssv692318,nssv683623,nssv665690,nssv691945,nssv657143,nssv652980,nssv676872,nssv656759,nssv692214,nssv654542,nssv663834,nssv677392,nssv678947,nssv673030,nssv664357,nssv668925,nssv676237,nssv679625,nssv658416,nssv662699,nssv675313,nssv652072,nssv654628,nssv666369,nssv677407,nssv656308,nssv674125,nssv683997,nssv691677,nssv679382,nssv671429,nssv659875,nssv689611,nssv667601,nssv690568,nssv666108,nssv686452,nssv670888,nssv692063,nssv689380,nssv678326,nssv684534,nssv652631,nssv666021,nssv675177,nssv662657,nssv686745,nssv672244,nssv677620,nssv689461,nssv658175,nssv692653,nssv651870,nssv683026,nssv659274,nssv658596,nssv661763,nssv692471,nssv688706,nssv657166,nssv671874,nssv661369,nssv663653,nssv699729,nssv667712,nssv662563,nssv669219,nssv677065,nssv686903,nssv680673,nssv668636,nssv675796,nssv676780,nssv690682,nssv697771,nssv686916,nssv661656,nssv676387,nssv673926,nssv680841,nssv671128,nssv654887,nssv679978,nssv671811,nssv686401,nssv673054,nssv675771,nssv665931,nssv674661 M 2026 0 218 "" nsv818162 3 100428761 100430538 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416044,nssv1415887,nssv1417976,nssv1417977,nssv1417009,nssv1415886,nssv1417008,nssv1417978,nssv1415888 M 112 0 9 "" NA07000,NA07029,NA07345,NA07348,NA07357,NA10861,NA11994,NA11995,NA12813 nsv514162 3 100429536 100431544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627597 S 1414 0 1 "" nsv523197 3 100454371 100455616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698914 S 2026 0 1 "" esv1605304 3 100465130 100465203 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929029 S 2 0 1 "" HuRef nsv818163 3 100487743 100498306 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417375 S 112 1 0 "" NA18944 esv23476 3 100489415 100489987 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10595 S 451 0 1 "" NA12878 esv2448443 3 100519627 100521198 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323596 S 1 0 1 "" NA18507 esv1010749 3 100519870 100520549 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564520 S 3 0 1 "" HuRef esv2260539 3 100519948 100520648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754052 S 1 0 1 "" NA18507 esv2765 3 100520064 100520598 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25206 S 1 0 1 Single Asian sample YH "" YH esv1003920 3 100520138 100520449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576606 S 3 0 1 "" HuRef esv1224830 3 100520144 100520456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082227 S 2 0 1 "" HuRef esv7230 3 100520145 100520444 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29671 S 1 0 1 "" SJK nsv523835 3 100534837 100535155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699667 S 2026 0 1 "" nsv527069 3 100534837 100539684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703448 S 2026 0 1 "" nsv877216 3 100547986 100643712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556731 S 6533 0 1 "" MS22146 nsv3916 3 100668698 100714742 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7018 S 9 0 1 "" NA12156 nsv508943 3 100681119 100741124 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620769 S 4 1 0 "" NA15510 nsv239 3 100685329 100690865 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv239 S 1 1 0 "" NA15510 nsv3917 3 100685329 100690865 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11065 S 9 1 0 "" NA15510 esv259872 3 100690026 100699454 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397881,essv2396874,essv2400136,essv2399135,essv2394882,essv2396188,essv2400822,essv2397392 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18577,NA18579,NA18608,NA18609,NA18942,NA18944,NA18952,NA18980 nsv442870 3 100690157 100691151 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28241 3 100690174 100699313 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17242 S 451 1 0 "" NA15510 esv2572173 3 100725069 100728029 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241734 S 1 0 1 "" NA18507 esv2354307 3 100725796 100727748 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638959 S 1 0 1 "" NA18507 esv25771 3 100725928 100727559 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13001 S 451 0 5 "" NA18505,NA19099,NA19108,NA19114,NA19190 nsv822192 3 100772049 100772684 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431967 S 31 0 1 "" AK20 nsv520742 3 100810835 100814663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697585 S 2026 0 1 "" nsv877217 3 100901640 100979041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565094 S 6533 0 1 COL8A1 IS30363 nsv508231 3 100924710 100981641 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619919 S 4 0 1 COL8A1 NA15510 nsv822193 3 100995750 100997619 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431968 S 31 0 1 COL8A1 AK20 nsv3918 3 101058558 101074770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10354 S 9 1 0 C3orf26,FILIP1L NA18956 nsv822194 3 101082950 101087065 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423288 S 31 0 1 C3orf26,FILIP1L NA18999 esv2332259 3 101087594 101088037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852987 S 1 0 1 C3orf26,FILIP1L NA18507 esv988265 3 101110993 101112696 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564584 S 3 0 1 C3orf26,FILIP1L HuRef esv2945 3 101111432 101112378 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25386 S 1 0 1 Single Asian sample YH C3orf26,FILIP1L YH esv987776 3 101111472 101112320 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574963 S 3 0 1 C3orf26,FILIP1L HuRef esv26006 3 101111485 101112308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12709 S 451 0 9 C3orf26,FILIP1L NA07045,NA11894,NA11931,NA11995,NA12414,NA12828,NA12878,NA18907,NA18909 esv998785 3 101111491 101112294 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586864 S 3 0 1 C3orf26,FILIP1L HuRef dgv818n67 3 101111491 101112334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822196,nsv822195 M 31 0 8 C3orf26,FILIP1L AK12,AK14,NA18526,NA18542,NA18566,NA18582,NA18969,NA18973 esv2507771 3 101137488 101138370 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387269 S 1 1 0 C3orf26,FILIP1L NA18507 esv1177720 3 101138071 101138071 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110861 S 2 1 0 C3orf26,FILIP1L HuRef esv1440096 3 101138074 101138074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044662 S 2 1 0 C3orf26,FILIP1L HuRef nsv822197 3 101181432 101183533 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431220 S 31 0 1 C3orf26,FILIP1L AK18 nsv3919 3 101215045 101249324 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3185 S 9 1 0 C3orf26,FILIP1L NA12878 esv4340 3 101267979 101268513 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26781 S 1 0 1 Single Asian sample YH C3orf26,FILIP1L YH nsv523836 3 101388940 101389441 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699668 S 2026 1 0 TMEM30C nsv822199 3 101397833 101407693 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428955 S 31 0 1 "" AK12 esv5393 3 101405315 101407680 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27834 S 1 0 1 Single Asian sample YH "" YH esv26744 3 101405377 101407623 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18161,esv16020 M 451 0 8 "" NA18505,NA18523,NA18907,NA19108,NA19114,NA19147,NA19190,NA19240 nsv822200 3 101407033 101407693 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432744,nssv1426550,nssv1438071,nssv1428176,nssv1434992,nssv1425459,nssv1435780,nssv1422657,nssv1440973,nssv1430484 M 31 0 10 "" AK10,AK16,AK6,NA18566,NA18592,NA18942,NA18947,NA18951,NA18969,NA18972 esv274093 3 101595181 101595515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580476 S 7 1 0 Samples from several populations that are part of the HapMap project. TOMM70A NA12891 esv1330906 3 101653317 101653317 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908022 S 2 1 0 LNP1 HuRef nsv877218 3 101659050 101750309 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548634 S 6533 1 0 TMEM45A MS17878 esv269521 3 101659913 101660259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516763,essv2515131,essv2516434,essv2515688,essv2515882,essv2517694,essv2517341,essv2518253 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12812,NA12814,NA12815,NA12873,NA12878,NA18970,NA19240 esv272365 3 101659913 101660259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581380,essv2581112 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1441576 3 101659956 101659956 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352874 S 2 1 0 "" HuRef dgv182e55 3 101782000 101962074 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751965,esv2751966,esv2751967,esv2751968,esv2751969 M 771 5 0 ABI3BP,GPR128,TFG BEC_374,BEC_396,BEC_400,BEC_536,BEC_537 nsv3920 3 101782766 101801608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3186 S 9 1 0 "" NA12878 dgv613n27 3 101793502 101916282 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460770,nsv460771 M 1557 2 0 GPR128,TFG 1780854255_A,1780854325_A nsv877219 3 101807132 101883423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593185 S 6533 1 0 GPR128 IS39365 nsv516418 3 101807132 101916282 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687348,nssv684459,nssv652898,nssv664394,nssv669689,nssv671129,nssv662687,nssv678633,nssv661473,nssv658152,nssv673191,nssv659901,nssv656493,nssv691678,nssv660996,nssv662328,nssv671430,nssv659504,nssv678676,nssv660356,nssv692551 M 2026 21 0 GPR128,TFG nsv877220 3 101807132 101949708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585590,nssv1590390,nssv1591388,nssv1534071,nssv1584522,nssv1564402 M 6533 6 0 GPR128,TFG IS30206,IS37060,IS37554,IS38504,IS38743,MS11451 nsv822201 3 101808009 101812250 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422510 S 31 0 1 GPR128 NA18552 esv2751970 3 101825000 101925168 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985140,essv6985141,essv6987170,essv6988896 M 771 1 0 GPR128,TFG SPC_102 dgv183e55 3 101825183 101975752 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2751971,esv2751972,esv2751973,esv2751974 M 771 4 0 ABI3BP,GPR128,TFG BEC_691,SPC_124,SPC_174,SPC_195 dgv614n27 3 101833435 101916282 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460772,nsv460778,nsv460783,nsv460789,nsv460775,nsv460785,nsv460780,nsv460781,nsv460786,nsv460779,nsv460777,nsv460774,nsv460776,nsv460782,nsv460788 M 1557 15 0 GPR128,TFG 1780862074_A,1780862196_A,1780862246_A,1780862559_A,HGDP00099,HGDP00631,HGDP00669,HGDP01062,HGDP01063,HGDP01066,HGDP01359,NINDS_253,NINDS_69,NINDS_70,NINDS_82 nsv470794 3 101833435 101916282 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547656,nssv547667 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR128,TFG HGDP00631,HGDP01359 nsv460787 3 101833435 101949708 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537297 S 1557 1 0 GPR128,TFG 1780854568_A esv2436823 3 101893161 101894090 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322630 S 1 1 0 GPR128 NA18507 esv271973 3 101893214 101893549 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576037,essv2541051,essv2546623,essv2526203,essv2542314,essv2536534,essv2523052,essv2570944,essv2568250,essv2545413,essv2523296,essv2577215,essv2570397,essv2548540,essv2576895,essv2535317,essv2554224,essv2520414,essv2547344,essv2558671,essv2564619,essv2577693,essv2553836,essv2520163,essv2564027,essv2530585,essv2561948,essv2537285,essv2528299,essv2520848,essv2562684,essv2569507,essv2527208,essv2534765,essv2519570,essv2522009,essv2570044,essv2568873,essv2533823,essv2555429,essv2566645,essv2527729,essv2555992,essv2534244,essv2522534,essv2573476,essv2575743,essv2526579,essv2523958,essv2560224,essv2549963,essv2571509,essv2546128,essv2574415,essv2551436,essv2536285,essv2537754,essv2548661,essv2533345,essv2547636,essv2563151 M 157 61 0 Samples from several populations that are part of the HapMap project. GPR128 NA06986,NA07000,NA07037,NA07051,NA07347,NA10847,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11931,NA11993,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12154,NA12249,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA18498,NA18507,NA18508,NA18522,NA18561,NA18566,NA18571,NA18593,NA18861,NA18916,NA18943,NA18948,NA18952,NA18956,NA18959,NA18960,NA18964,NA19099,NA19114,NA19129,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274099 3 101893215 101893548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581931,essv2582337,essv2584036,essv2584642,essv2583426 M 7 5 0 Samples from several populations that are part of the HapMap project. GPR128 NA12878,NA12891,NA19238,NA19239,NA19240 esv5408 3 102004232 102005332 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27849 S 1 0 1 Single Asian sample YH ABI3BP YH nsv822202 3 102004278 102004817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432745 S 31 0 1 ABI3BP NA18972 dgv819n67 3 102004278 102005221 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822203,nsv822205,nsv822204 M 31 0 4 ABI3BP AK14,AK16,NA18566,NA18947 esv21526 3 102004367 102005202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11375 S 451 0 4 ABI3BP NA07037,NA12239,NA12287,NA12878 nsv877221 3 102029664 102075399 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548635 S 6533 1 0 ABI3BP MS17878 nsv514163 3 102030032 102153536 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627598 S 1414 0 1 ABI3BP nsv3922 3 102052345 102070068 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7839 S 9 0 1 ABI3BP NA12156 dgv1480e1 3 102096077 102259187 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv54,essv23962 M 271 0 0 ABI3BP NA12814 esv2534604 3 102151285 102154351 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162799 S 1 0 1 ABI3BP NA18507 nsv10294 3 102151685 102153692 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11952 S 31 0 1 Samples from several populations that are part of the HapMap project. ABI3BP NA18502 esv2308387 3 102151816 102153735 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998979 S 1 0 1 ABI3BP NA18507 esv28693 3 102152000 102153552 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15017 S 451 0 1 ABI3BP NA18502 esv2422136 3 102152207 102155916 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056288,essv5106112,essv5114734,essv5127327,essv5004293,essv5091572,essv5007790,essv5108250,essv5152491,essv5068005,essv5019520,essv5099938,essv5042445,essv5080951,essv5073405,essv5088896,essv5067126,essv5109618,essv5013593 M 1184 0 19 ABI3BP NA12891,NA18498,NA18500,NA18506,NA18852,NA18854,NA18949,NA19028,NA19193,NA19194,NA19209,NA19390,NA19394,NA19708,NA19904,NA20356,NA20358,NA21479,NA21689 nsv441834 3 102152207 102155916 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABI3BP nsv525082 3 102182517 102185814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701140 S 2026 0 1 ABI3BP nsv877222 3 102198266 102520987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582414 S 6533 1 0 IMPG2 IS35940 esv259513 3 102219805 102220102 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394097,essv2393958,essv2393819,essv2393649,essv2394355 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv260062 3 102219812 102220106 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398578,essv2400261,essv2395836,essv2401115,essv2398879,essv2396017,essv2399398,essv2396264,essv2397357,essv2401079,essv2396960,essv2395580,essv2394980,essv2396506,essv2396104,essv2395686,essv2396330,essv2398517,essv2397414,essv2395066,essv2397852,essv2396877,essv2400405,essv2395559,essv2394706,essv2397890,essv2395328,essv2394914,essv2394432,essv2396202,essv2397135,essv2397772,essv2398387,essv2394838,essv2399759,essv2399503,essv2396391,essv2398052,essv2398705,essv2399685,essv2395964,essv2400550,essv2394500 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11829,NA11830,NA11931,NA11995,NA12003,NA12287,NA12716,NA12878,NA12891,NA12892,NA18501,NA18511,NA18517,NA18523,NA18532,NA18558,NA18562,NA18566,NA18571,NA18577,NA18579,NA18592,NA18593,NA18870,NA18907,NA18916,NA18942,NA18943,NA18944,NA18951,NA18956,NA19093,NA19114,NA19129,NA19137,NA19138,NA19147,NA19190,NA19210,NA19238,NA19240,NA19257 esv999534 3 102219997 102219997 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581991 S 3 1 0 "" HuRef esv1589137 3 102219998 102219998 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094263 S 2 1 0 "" HuRef nsv3923 3 102255075 102289300 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3104 S 9 1 0 "" NA18555 esv1003359 3 102281410 102281492 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564918 S 3 1 0 "" HuRef nsv877223 3 102299733 102354133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581704 S 6533 0 1 "" IS35701 nsv236152 3 102351120 102351120 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254730 M 24 "" nsv236423 3 102351165 102351165 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255001 M 24 "" nsv3924 3 102371351 102391753 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3105 S 9 1 0 "" NA18555 nsv507110 3 102400775 102406775 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620216,nssv617610,nssv622862,nssv621712 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv508232 3 102487541 102510899 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622466 S 4 0 1 IMPG2 NA18994 nsv507111 3 102627509 102633509 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620217,nssv621713,nssv622863 M 4 3 0 SENP7 NA10860,NA15510,NA18994 nsv513063 3 102644011 102646604 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626548 S 1 0 1 SENP7 1 esv1929626 3 102692715 102693183 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611852 S 1 0 1 SENP7 NA18507 nsv508944 3 102730060 102777059 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623379 S 4 1 0 PCNP,RG9MTD1 NA18994 esv22575 3 102734202 102736622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10386 S 451 0 1 "" NA18909 nsv3925 3 102759196 102764226 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3187 S 9 1 0 RG9MTD1 NA12878 dgv294n21 3 102789197 102796630 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528547,nsv522745 M 2026 0 2 PCNP esv992869 3 102831123 102843006 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564261 S 3 0 1 "" HuRef nsv511216 3 102832334 102849611 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626732 S 1 0 1 "" 1 esv4740 3 102840220 102842592 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27181 S 1 0 1 Single Asian sample YH "" YH esv29752 3 102840269 102842664 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11133 S 451 0 8 "" NA06985,NA11931,NA12006,NA12828,NA18508,NA18858,NA18907,NA19257 esv272155 3 102915038 102915377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517121,essv2515319,essv2515147,essv2515605,essv2515969,essv2514277,essv2517574 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12249,NA12812,NA12815,NA12873,NA12874,NA12878 esv272748 3 102915038 102915377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581450 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1542299 3 102924675 102925065 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049911 S 2 0 1 "" HuRef esv2350180 3 102965231 102965660 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841740 S 1 0 1 CEP97 NA18507 dgv5208n71 3 103158639 103238428 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877225,nsv877224 M 6533 2 0 LOC152225 MS17878,SP80928 nsv877226 3 103164171 103285742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555233 S 6533 1 0 LOC152225 MS21244 nsv822206 3 103290568 103291078 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434329 S 31 0 1 "" NA18570 esv1011048 3 103292447 103297883 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564062 S 3 0 1 "" HuRef nsv822207 3 103533730 103534354 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424887 S 31 1 0 "" AK2 nsv877227 3 103549944 103666998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596735 S 6533 0 1 ZPLD1 IS40627 dgv615n27 3 103571697 103583471 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460790,nsv460791 M 1557 0 2 "" HGDP00112,HGDP01227 nsv507112 3 103574532 103580532 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621714,nssv617611,nssv620218,nssv622864 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv512808 3 103577129 103577330 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625442 S 1 1 0 "" 1 esv1181415 3 103577423 103577423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353590 S 2 1 0 "" HuRef nsv3926 3 103695826 103740323 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7019 S 9 0 1 "" NA12156 esv2585817 3 103765963 103767412 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359114 S 1 0 1 "" NA18507 esv2420595 3 103766265 103767010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4870229 S 1 0 1 "" NA18507 esv2959 3 103766438 103766959 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25400 S 1 0 1 Single Asian sample YH "" YH esv2561033 3 103766465 103766802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345618 S 1 0 1 "" NA18507 nsv237724 3 103766465 103766802 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256302 M 24 "" esv1000829 3 103766469 103766806 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567336 S 3 0 1 "" HuRef esv1707781 3 103766477 103766815 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338745 S 2 0 1 "" HuRef esv9326 3 103766480 103766807 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31767 S 1 0 1 "" SJK esv7648 3 103784888 103784981 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30089 S 1 1 0 "" SJK nsv877228 3 103828328 104234160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528046 S 6533 1 0 "" SP81109 nsv834776 3 103834176 104014732 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442954 S 95 1 0 "" nsv524557 3 103846987 103876842 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700511 S 2026 1 0 "" dgv5209n71 3 103897817 104132340 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877229,nsv877230 M 6533 0 2 "" IS39666,MS17114 nsv460792 3 103949741 104570344 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537302 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01095 nsv834777 3 103950128 104117140 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442955 S 95 0 1 "" nsv236493 3 103986221 103994695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255071 M 24 "" esv2170743 3 104009835 104010297 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663788 S 1 0 1 "" NA18507 esv1246802 3 104010016 104010274 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908434 S 2 0 1 "" HuRef nsv470805 3 104016136 104118542 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547678 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv512809 3 104030952 104031101 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625444 S 1 1 0 "" 1 esv1067056 3 104031066 104031066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154232 S 2 1 0 "" HuRef nsv877231 3 104035031 104132340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584984 S 6533 0 1 "" IS37226 nsv877232 3 104158957 105188964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582074 S 6533 0 1 "" IS35788 nsv822208 3 104226292 104235396 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435782 S 31 0 1 "" NA18566 nsv877233 3 104270146 104439615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546071 S 6533 0 1 "" MS17114 nsv877234 3 104315821 104433385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586759 S 6533 0 1 "" IS37974 nsv877235 3 104323367 104394759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506776 S 6533 0 1 "" SP54405 nsv522049 3 104347366 104354141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694820 S 2026 0 1 "" nsv3927 3 104349722 104382692 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5977 S 9 1 0 "" NA19129 nsv877236 3 104354141 104439615 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545439,nssv1577861 M 6533 1 1 "" IS34599,MS16793 nsv877237 3 104406694 104517956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563620,nssv1556129 M 6533 0 2 "" MS21820,MS26137 dgv1481e1 3 104428032 104433385 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1133,essv1814 M 271 0 0 "" NA18971 nsv520084 3 104428906 104430796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660563,nssv674386 M 2026 0 2 "" esv274551 3 104466263 104466658 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580721 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269504 3 104466422 104466635 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503225,essv2511464,essv2501654,essv2502892,essv2508343,essv2510782,essv2504110,essv2506100,essv2504858,essv2509568,essv2496889,essv2511963,essv2501847,essv2498059 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11920,NA12144,NA12156,NA12749,NA18501,NA18505,NA18523,NA19099,NA19129,NA19190,NA19238,NA19239,NA19240 nsv877238 3 104517956 104610168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556732 S 6533 0 1 "" MS22146 nsv508233 3 104529040 104540500 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619920 S 4 0 1 "" NA15510 nsv527886 3 104531581 105472583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704388 S 2026 0 1 "" nsv877239 3 104553964 104602216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507125 S 6533 0 1 "" SP54477 nsv877240 3 104556205 104579967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514068,nssv1509260 M 6533 0 2 "" SP54774,SP55915 nsv822210 3 104557917 104568993 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423289 S 31 0 1 "" NA18999 nsv460793 3 104561945 104570344 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537303 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01183 dgv5210n71 3 104572931 104633733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877241,nsv877246,nsv877242,nsv877243 M 6533 0 9 "" IS31563,IS34489,IS35572,MS10737,MS15312,MS17114,MS20872,SP50649,SP54579 dgv5211n71 3 104577860 104714649 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877244,nsv877247 M 6533 0 2 "" IS30764,MS15199 nsv877245 3 104577860 104828603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567293,nssv1591476 M 6533 0 2 "" IS31067,IS38846 nsv460794 3 104579967 104662378 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537304 S 1557 0 1 "" 1780854599_A nsv511096 3 104597444 104609689 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624288 S 4 0 0 "" NA18994 nsv507113 3 104601783 104607783 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620219 S 4 1 0 "" NA15510 nsv460799 3 104605275 104695398 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537306 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00963 dgv5212n71 3 104623390 104828603 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877249,nsv877248 M 6533 0 2 "" IS31419,IS41113 esv2086376 3 104645591 104646014 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541913 S 1 0 1 "" NA18507 esv268918 3 104654032 104654376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518836,essv2514776,essv2516579,essv2514389 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12234,NA12814,NA12874 esv2373833 3 104724428 104724944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911156 S 1 0 1 "" NA18507 esv992691 3 104735434 104742472 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565099 S 3 0 1 "" HuRef dgv1482e1 3 104738943 104903852 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv87,essv12422 M 271 0 0 "" NA19238 esv25892 3 104748229 104749634 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18905 S 451 0 1 "" NA12828 esv2305473 3 104791080 104791548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900341 S 1 0 1 "" NA18507 nsv877250 3 104855337 104933281 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548637 S 6533 1 0 "" MS17878 nsv10296 3 104886557 104898190 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28614 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 dgv5213n71 3 104890898 105233595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877251,nsv877253,nsv877254 M 6533 0 3 "" IS33533,IS33747,IS40627 esv271953 3 104902095 104902422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558043,essv2571696,essv2526041,essv2536675,essv2523162,essv2570393,essv2552062,essv2547580,essv2529124,essv2577709,essv2565417,essv2576279,essv2562032,essv2540083,essv2569205,essv2550135,essv2538924,essv2569677,essv2561394,essv2549444,essv2566830,essv2542182,essv2551017,essv2569029,essv2529526,essv2524304,essv2574815,essv2568438,essv2560445,essv2571401,essv2545786,essv2574202,essv2551621,essv2549107,essv2554645 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10851,NA11840,NA11918,NA11920,NA12004,NA12044,NA12489,NA12717,NA12749,NA12761,NA12812,NA12814,NA12874,NA18489,NA18508,NA18511,NA18519,NA18520,NA18523,NA18564,NA18853,NA18856,NA18858,NA18861,NA19093,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272423 3 104902095 104902422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584046,essv2584622,essv2583678 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv877252 3 104916612 105080965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568273,nssv1555237 M 6533 0 2 "" IS31228,MS21249 esv268063 3 104936053 104936382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565682,essv2575999,essv2540739,essv2571663,essv2546250,essv2521378,essv2526306,essv2542494,essv2536540,essv2523068,essv2544110,essv2570882,essv2545654,essv2523154,essv2531802,essv2577563,essv2548453,essv2521482,essv2576547,essv2550855,essv2535006,essv2544543,essv2547372,essv2529354,essv2558519,essv2564686,essv2577691,essv2553791,essv2559496,essv2565209,essv2564289,essv2555118,essv2530596,essv2562085,essv2537697,essv2528312,essv2547076,essv2530498,essv2569399,essv2578758,essv2536981,essv2544976,essv2563049,essv2523635,essv2564785,essv2549389,essv2522243,essv2528810,essv2567504,essv2535531,essv2569187,essv2528129,essv2572970,essv2555472,essv2567225,essv2555821,essv2522543,essv2531583,essv2571871,essv2524214,essv2560927,essv2574960,essv2560231,essv2536220,essv2537976,essv2549073,essv2533119,essv2554351,essv2547678,essv2563535,essv2557968 M 157 71 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12249,NA12414,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18508,NA18510,NA18517,NA18526,NA18532,NA18537,NA18558,NA18564,NA18571,NA18579,NA18582,NA18608,NA18861,NA18907,NA18942,NA18943,NA18947,NA18956,NA18960,NA18961,NA18973,NA19129,NA19137,NA19138,NA19190 esv274304 3 104936053 104936382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581945,essv2582451,essv2583133 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1615115 3 104936086 104936086 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595606 S 2 1 0 "" HuRef esv28343 3 104947493 104953682 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19907 S 451 0 1 "" NA07045 nsv512810 3 104950383 104951517 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625445 S 1 1 0 "" 1 esv1155096 3 104951434 104951434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603798 S 2 1 0 "" HuRef dgv5214n71 3 104970212 105080965 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877256,nsv877255 M 6533 0 4 "" IS30562,IS31259,IS41895,MS15312 dgv5215n71 3 104970212 105230314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877257,nsv877258 M 6533 0 3 "" IS33196,IS35911,IS39011 dgv5216n71 3 104996126 105160823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877260,nsv877259 M 6533 0 4 "" IS33738,IS41866,MS15491,SP54223 nsv460803 3 105007007 105071116 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537307 S 1557 0 1 "" NINDS_162 dgv5217n71 3 105021346 105230314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877262,nsv877261 M 6533 0 4 "" IS30764,IS31205,IS34962,MS17114 nsv3928 3 105024032 105069057 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7840 S 9 0 1 "" NA12156 esv2827 3 105030524 105031069 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25268 S 1 0 1 Single Asian sample YH "" YH esv6395 3 105030584 105030922 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28836 S 1 0 1 "" SJK esv992370 3 105030603 105030921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581115 S 3 0 1 "" HuRef esv1606618 3 105030612 105030931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198244 S 2 0 1 "" HuRef dgv5218n71 3 105041368 105183599 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877264,nsv877263 M 6533 3 0 "" MS17878,SP53401,SP54930 nsv509843 3 105059210 105065210 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618582 S 4 0 1 "" CHM esv25194 3 105076563 105085837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14754 S 451 0 1 "" NA18907 nsv877265 3 105101013 105186764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571103 S 6533 0 1 "" IS32607 nsv877266 3 105101013 105233595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551717 S 6533 0 1 "" MS18978 nsv460804 3 105123848 105205033 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537308 S 1557 0 1 "" 1780862001_A nsv519135 3 105133659 105137759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696613 S 2026 0 1 "" dgv5219n71 3 105133659 105233595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877269,nsv877267,nsv877268 M 6533 0 5 "" IS31285,IS35572,IS39944,MS12266,MS22104 nsv877270 3 105167334 105233595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558739 S 6533 0 1 "" MS23531 nsv877271 3 105167334 105277939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522088 S 6533 0 1 "" SP52723 nsv818164 3 105183599 105202476 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417842 S 112 1 0 "" NA18852 nsv10297 3 105204462 105532823 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11499 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12740 esv28943 3 105240994 105242165 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19795 S 451 0 1 "" NA19099 nsv236241 3 105292880 105292944 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254819 M 24 "" nsv877272 3 105324503 105535718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596483 S 6533 0 1 "" IS40538 esv270162 3 105332192 105332277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514332 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv1011254 3 105364993 105364993 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567625 S 3 1 0 "" HuRef esv1177094 3 105364994 105364994 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178621 S 2 1 0 "" HuRef nsv877273 3 105500297 105808982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578206 S 6533 0 1 "" IS34733 esv25825 3 105516651 105518077 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16190 S 451 17 0 "" NA07037,NA12004,NA12156,NA12414,NA12878,NA18502,NA18505,NA18508,NA18517,NA18861,NA18907,NA18909,NA18916,NA19147,NA19190,NA19225,NA19240 nsv820955 3 105516651 105518342 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420332 S 1 0 1 "" NA10851 dgv1483e1 3 105522067 106297806 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2263,esv732,essv3639 M 271 0 0 "" NA18966 nsv877274 3 105564866 105630288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597537 S 6533 0 1 "" IS41043 nsv10298 3 105576616 105578725 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12720 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv5220n71 3 105583795 105639090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877276,nsv877280,nsv877275,nsv877277,nsv877279,nsv877278 M 6533 0 11 "" IS31554,IS31729,IS39011,IS41224,MS13292,MS13727,MS21100,MS24600,SP50144,SP54635,SP57367 esv35023 3 105586566 106261000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989153,essv6987729,essv6980172,essv6980171,essv6987730 M 771 0 1 "" NA18966 nsv877281 3 105605364 105639090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561732 S 6533 0 1 "" MS25205 nsv437870 3 105615012 105630578 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471347 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 nsv877282 3 105670175 105728831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593615 S 6533 0 1 "" IS39464 dgv5221n71 3 105702590 105757056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877283,nsv877284 M 6533 0 2 "" IS31044,MS25963 nsv877285 3 105722344 105772154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519644 S 6533 0 1 "" SP50101 nsv437872 3 105725082 105740040 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471348 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 nsv519427 3 105732393 105732507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696848 S 2026 0 1 "" nsv511227 3 105757056 105762725 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624422 S 1 0 1 "" 1 nsv10299 3 105759634 105763286 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28580,nssv12051,nssv28654,nssv28963,nssv12833,nssv11463,nssv28340,nssv11982,nssv12248,nssv29221,nssv28863 M 31 0 11 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA12155,NA12802,NA12872,NA18502,NA18552,NA18860,NA18972 nsv513064 3 105760481 105761739 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626549 S 1 0 1 "" 1 esv25708 3 105760834 105761732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14642 S 451 0 7 "" NA07037,NA11931,NA12004,NA12044,NA12414,NA12878,NA18502 nsv822211 3 105760850 105761895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426551 S 31 0 1 "" AK6 nsv822212 3 105760850 105763037 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422511 S 31 0 1 "" NA18552 esv1008411 3 105760889 105761735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574224 S 3 0 1 "" HuRef esv991423 3 105761172 105761895 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587012 S 3 0 1 "" HuRef nsv822213 3 105761172 105761895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430487 S 31 0 1 "" AK16 esv28037 3 105776226 105783190 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13214 S 451 0 1 "" NA19257 nsv523808 3 105821284 105824665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699638 S 2026 0 1 "" dgv616n27 3 105837510 105864778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460807,nsv460805 M 1557 0 2 "" NINDS_104,NINDS_67 nsv437873 3 105841684 105870421 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471349 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 dgv5222n71 3 105841684 105872504 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877286,nsv877287 M 6533 0 2 "" MS18847,MS18978 nsv470816 3 105845403 105870421 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547690 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 esv2624595 3 105848119 105848924 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185103 S 1 1 0 "" NA18507 nsv877288 3 105848302 105914277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519645 S 6533 0 1 "" SP50101 esv272754 3 105848368 105849041 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580215,essv2579846 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv5223n71 3 105860504 105875486 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877289,nsv877290 M 6533 2 0 "" MS25725,MS25774 nsv10300 3 105861916 105868604 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28972 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv877291 3 105867704 106068616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596737 S 6533 0 1 "" IS40627 esv3740 3 105898806 105899229 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26181 S 1 0 1 Single Asian sample YH "" YH esv2040065 3 105898830 105899297 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813669 S 1 0 1 "" NA18507 esv29224 3 105898997 105901988 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13045 S 451 0 1 "" NA18505 nsv10301 3 105899710 105907699 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12012 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv819902 3 105901639 105903313 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419304 S 2 0 1 "" AK1 nsv822214 3 105902727 105903238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437355 S 31 0 1 "" NA18949 nsv437874 3 105903275 105910971 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471350 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 nsv877292 3 105904316 105921804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580612 S 6533 0 1 "" IS35390 nsv10302 3 105923277 105927180 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12057 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv834778 3 105973217 106163849 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442956 S 95 1 0 "" nsv437875 3 105981960 106026615 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471351 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 dgv5224n71 3 106012856 106068616 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877293,nsv877294 M 6533 0 3 "" IS30700,MS25669,MS25963 dgv5225n71 3 106012856 106082020 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877295,nsv877296 M 6533 2 0 "" IS30181,IS38979 nsv3929 3 106026107 106056484 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5978 S 9 1 0 "" NA19129 nsv507114 3 106095259 106101259 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620220 S 4 1 0 "" NA15510 nsv528094 3 106098595 106101306 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704632 S 2026 0 1 "" nsv437876 3 106100663 106114293 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471352 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 nsv10303 3 106126821 106129139 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11598,nssv29063,nssv11484,nssv29044 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA11830,NA18564,NA18975,NA19007 nsv236286 3 106128120 106128290 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254864 M 24 "" nsv460808 3 106138272 106197728 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537312 S 1557 0 1 "" NINDS_172 esv21439 3 106147656 106150583 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12568 S 451 0 1 "" NA12156 nsv877297 3 106166443 106256439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568568 S 6533 0 1 "" IS31306 nsv437877 3 106193515 106260648 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471353 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18966 nsv516883 3 106197588 106197728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657081,nssv654676 M 2026 0 2 "" nsv525334 3 106197588 106200701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701449 S 2026 0 1 "" dgv5226n71 3 106207324 106223206 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877298,nsv877299 M 6533 0 2 "" MS16629,SP52863 nsv877300 3 106212746 106234259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541722 S 6533 0 1 "" MS15479 nsv523698 3 106238102 106246367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699505 S 2026 0 1 "" nsv877301 3 106241722 106271221 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534685 S 6533 0 1 "" MS11726 nsv460809 3 106246367 106256994 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537313 S 1557 0 1 "" NINDS_125 nsv460810 3 106249346 106266710 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537314 S 1557 0 1 "" NINDS_170 esv2588691 3 106253124 106253868 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167125 S 1 1 0 "" NA18507 dgv5227n71 3 106356023 106472574 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877302,nsv877303 M 6533 0 2 "" IS40627,IS41955 nsv518078 3 106360408 106364626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695491 S 2026 0 1 "" nsv519785 3 106405977 106415848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697050 S 2026 0 1 "" esv270351 3 106426178 106426670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498687 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19138 esv2136722 3 106482176 106482580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559883 S 1 0 1 "" NA18507 esv3169 3 106482244 106482485 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25610 S 1 0 1 Single Asian sample YH "" YH nsv525071 3 106487543 106892011 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701125 S 2026 1 0 ALCAM,CBLB nsv829650 3 106553583 106737726 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442959,nssv1442958,nssv1442957 M 95 3 0 ALCAM nsv877304 3 106604904 106681064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567574 S 6533 1 0 ALCAM IS31118 nsv829651 3 106686114 106884826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442960 S 95 0 1 ALCAM,CBLB nsv509844 3 106691070 106697070 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623915 S 4 0 1 ALCAM NA18994 nsv460811 3 106695683 106799459 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537315 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALCAM HGDP01064 nsv877305 3 106781069 106844972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600706 S 6533 0 1 "" IS41919 nsv528578 3 106783598 106825705 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705197 S 2026 0 1 "" esv7287 3 106788681 106793718 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29728 S 1 0 1 "" SJK esv1234033 3 106809881 106809881 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997803 S 2 1 0 "" HuRef esv273913 3 106816492 106816658 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580913,essv2578940,essv2579735 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv267949 3 106816578 106816723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502942,essv2494846,essv2506205,essv2513274,essv2498965,essv2498750,essv2510467,essv2499639,essv2501933,essv2498271 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18519,NA18523,NA18907,NA19114,NA19138,NA19172,NA19225,NA19239,NA19240 dgv5228n71 3 106854886 106978531 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877308,nsv877306,nsv877307 M 6533 0 5 CBLB IS31067,IS35549,MS18847,MS18978,MS22858 nsv877309 3 106856526 107025125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600765 S 6533 0 1 CBLB IS41924 nsv877310 3 106892011 106978531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565457,nssv1555624 M 6533 0 2 CBLB IS30432,MS21470 nsv877311 3 106932676 106975976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500617 S 6533 0 1 CBLB SP50144 nsv511097 3 107024172 107048496 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621561,nssv622358 M 4 0 0 CBLB NA10860,NA15510 nsv508234 3 107032554 107048496 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622467 S 4 0 1 CBLB NA18994 nsv877312 3 107043328 107399196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556972 S 6533 0 1 CBLB MS22321 esv26317 3 107179286 107180563 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12915,esv13455 M 451 0 2 "" NA18523,NA18861 nsv822215 3 107268168 107354171 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424997 S 31 1 0 "" NA18968 nsv518246 3 107271156 107271987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695677 S 2026 0 1 "" esv1776518 3 107275369 107276155 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304226 S 2 0 1 "" HuRef esv271183 3 107297594 107297930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565860,essv2546207,essv2521175,essv2542505,essv2544090,essv2545323,essv2570729,essv2521687,essv2547406,essv2577874,essv2576423,essv2555016,essv2561767,essv2529799,essv2538675,essv2545975,essv2574121 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11881,NA11894,NA11919,NA11992,NA12003,NA12044,NA12144,NA12717,NA12761,NA12814,NA12872,NA12874,NA19093,NA19108,NA19239,NA19240 esv274559 3 107297594 107297930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584567,essv2583704 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2448920 3 107310828 107314824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280872 S 1 0 1 "" NA18507 esv2549189 3 107311466 107315830 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390824 S 1 0 1 "" NA18507 nsv877313 3 107334841 107529704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547366 S 6533 0 1 "" MS17359 nsv3930 3 107375727 107407568 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10355 S 9 1 0 "" NA18956 nsv877314 3 107448686 107613841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557420 S 6533 0 1 "" MS22677 nsv877315 3 107475555 107536378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600798 S 6533 0 1 "" IS41926 nsv525134 3 107494241 107497571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701202 S 2026 0 1 "" nsv829652 3 107503623 107680135 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442961 S 95 1 0 "" nsv3931 3 107535539 107569804 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv315 S 9 1 0 "" NA19240 nsv877316 3 107586492 107607865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514636 S 6533 0 1 "" SP56041 esv2422330 3 107633368 107902917 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161510 S 181 0 1 "" ND01354 dgv1484e1 3 107633520 107818033 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv471,essv24264 M 271 0 0 "" NA10856 nsv10304 3 107702453 107706016 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11493,nssv11529,nssv12043 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA12740,NA18504 nsv526864 3 107702820 107708913 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703222 S 2026 1 0 "" esv267862 3 107771861 107772189 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540679,essv2546515,essv2521121,essv2526047,essv2543811,essv2568293,essv2577628,essv2548621,essv2521840,essv2550444,essv2535480,essv2553938,essv2520491,essv2577834,essv2576152,essv2564038,essv2537197,essv2528624,essv2546756,essv2552718,essv2569200,essv2539124,essv2544803,essv2562966,essv2523698,essv2553077,essv2541281,essv2542660,essv2540415,essv2524746,essv2564812,essv2534648,essv2561039,essv2539796,essv2549232,essv2559861,essv2522073,essv2566316,essv2532721,essv2568023,essv2528678,essv2567497,essv2541809,essv2570283,essv2563740,essv2553164,essv2535535,essv2572304,essv2559393,essv2566987,essv2568877,essv2539485,essv2578247,essv2572932,essv2555188,essv2533784,essv2567092,essv2566455,essv2529913,essv2573873,essv2527566,essv2557742,essv2556018,essv2534324,essv2522483,essv2573480,essv2543118,essv2577033,essv2571887,essv2525642,essv2526973,essv2529497,essv2575559,essv2575316,essv2538578,essv2572849,essv2568559,essv2560507,essv2549897,essv2571168,essv2574116,essv2533138,essv2563258 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA11831,NA11881,NA11894,NA11918,NA11992,NA11995,NA12043,NA12045,NA12144,NA12234,NA12249,NA12287,NA12716,NA12761,NA12814,NA12828,NA12878,NA12891,NA12892,NA18502,NA18508,NA18519,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18912,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19143,NA19147,NA19190,NA19225,NA19238,NA19240 esv274309 3 107771861 107772189 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581774,essv2582381,essv2583261,essv2584126,essv2583880 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv1528174 3 107771891 107771891 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153438 S 2 1 0 "" HuRef nsv528075 3 107805520 107807511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704611 S 2026 0 1 "" nsv460812 3 107820260 108025656 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537316 S 1557 0 1 "" NINDS_45 nsv512811 3 107835242 107835970 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625446 S 1 1 0 "" 1 esv1653835 3 107835344 107835344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319692 S 2 1 0 "" HuRef esv2198653 3 107860343 107860751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952870 S 1 0 1 "" NA18507 esv1057776 3 107860506 107860506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653094 S 2 1 0 "" HuRef dgv74n17 3 107862695 107873579 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437835,nsv437824,nsv437846,nsv437813 M 60 0 4 "" NA10846,NA10847,NA10855,NA12752 esv2298570 3 107919378 107919965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521360 S 1 0 1 "" NA18507 nsv877317 3 107947203 108088756 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548639 S 6533 1 0 "" MS17878 nsv877318 3 107998055 108048892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509438 S 6533 1 0 "" SP54790 nsv877319 3 108062898 108205492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525098 S 6533 1 0 "" SP55500 esv1061892 3 108072529 108072529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074053 S 2 1 0 "" HuRef nsv237588 3 108072530 108072530 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256166 M 24 "" esv2155785 3 108135229 108135642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899374 S 1 0 1 "" NA18507 nsv877320 3 108142191 108189621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599634 S 6533 0 1 "" IS41739 nsv460813 3 108162609 108205492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537317 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00610 esv990196 3 108218599 108219550 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563742 S 3 0 1 "" HuRef esv4144 3 108218623 108219104 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26585 S 1 0 1 Single Asian sample YH "" YH esv2941 3 108296280 108296544 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25382 S 1 0 1 Single Asian sample YH "" YH esv1070100 3 108296321 108296485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658830 S 2 0 1 "" HuRef nsv3933 3 108299655 108344587 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7841 S 9 0 1 LOC100302640 NA12156 nsv822216 3 108331120 108332687 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423290 S 31 0 1 LOC100302640 NA18999 nsv507115 3 108443427 108449427 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622865 S 4 1 0 LOC344595 NA18994 esv2039211 3 108465841 108466252 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546194 S 1 0 1 LOC344595 NA18507 nsv829653 3 108495168 108678246 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442964 S 95 1 0 CCDC54,LOC344595 nsv3934 3 108507811 108552033 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2404 S 9 0 1 LOC344595 NA18555 nsv508235 3 108509965 108564468 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618716 S 4 0 1 LOC344595 NA10860 nsv436365 3 108519959 108523375 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466021 S 2 0 1 Samples from several populations that are part of the HapMap project. LOC344595 NA18505 nsv513065 3 108520053 108523029 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626550 S 1 0 1 LOC344595 1 esv4387 3 108520599 108523158 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26828 S 1 0 1 Single Asian sample YH LOC344595 YH esv8280 3 108520636 108523024 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30721 S 1 0 1 LOC344595 SJK esv21602 3 108520638 108522992 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16153 S 451 16 4 LOC344595 NA06985,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12878,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA19114,NA19147,NA19190,NA19240,NA19257 nsv820399 3 108520638 108522992 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420333 S 1 0 1 LOC344595 NA10851 nsv236844 3 108520645 108523022 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255422 M 24 LOC344595 esv1342891 3 108592749 108592749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752821 S 2 1 0 "" HuRef esv2554662 3 108618613 108620188 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222831 S 1 0 1 "" NA18507 esv25654 3 108632774 108633675 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11801 S 451 0 1 "" NA12156 nsv829654 3 108636786 108788921 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442966,nssv1442965 M 95 2 0 BBX nsv3935 3 108645603 108655226 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7842 S 9 1 0 "" NA12156 nsv3936 3 108645956 108690898 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7843 S 9 0 1 "" NA12156 esv2998 3 108648033 108648257 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25439 S 1 0 1 Single Asian sample YH "" YH nsv237641 3 108648228 108648228 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256219 M 24 "" nsv877321 3 108799628 109008872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553194 S 6533 0 1 BBX MS19808 nsv829655 3 108852876 109039033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442971,nssv1442970,nssv1442972,nssv1442969,nssv1442968,nssv1442967 M 95 6 0 BBX esv27545 3 108899440 108901911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14697 S 451 0 2 BBX NA18909,NA19257 nsv236312 3 109037121 109042064 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254890 M 24 "" nsv877322 3 109110866 109150641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557246 S 6533 0 1 LOC285205 MS22524 nsv7355 3 109167149 109257926 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11067,nssv11066 M 9 0 0 CD47 NA15510 esv1006663 3 109174588 109224783 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586378 S 3 1 0 "" HuRef nsv240 3 109180872 109206200 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv240 S 1 0 0 "" NA15510 nsv10305 3 109184817 109191092 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28915,nssv12042,nssv12164,nssv11849 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517,NA19144,NA19173 dgv81n16 3 109201861 109226060 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435982,nsv435957 M 2 0 0 "" NA15510 dgv40n47 3 109202521 109224822 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499116,nsv499118 M 9 0 0 "" nsv236303 3 109202900 109202900 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254881 M 24 "" nsv241 3 109209279 109254220 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv241 S 1 0 0 CD47 NA15510 esv23966 3 109223761 109224783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15449 S 451 0 2 "" NA15510,NA18861 esv1488539 3 109227885 109227885 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347002 S 2 1 0 "" HuRef esv2633277 3 109249813 109251262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290121 S 1 0 1 CD47 NA18507 esv273899 3 109375987 109376336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580958 S 7 1 0 Samples from several populations that are part of the HapMap project. IFT57 NA19238 esv271566 3 109375994 109376282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546397,essv2544031,essv2570898,essv2576578,essv2520345,essv2547277,essv2529263,essv2559492,essv2578839,essv2540567,essv2524611,essv2559914,essv2567630,essv2535734,essv2527012,essv2560680,essv2530238,essv2545938,essv2574211,essv2536158,essv2538028,essv2548832,essv2533255 M 157 23 0 Samples from several populations that are part of the HapMap project. IFT57 NA06986,NA07000,NA07037,NA07051,NA11881,NA11992,NA11993,NA12154,NA12716,NA12717,NA12749,NA12776,NA18510,NA18552,NA18555,NA18570,NA18582,NA18608,NA19005,NA19116,NA19141,NA19239,NA19240 nsv829656 3 109383013 109585023 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442973 S 95 0 1 HHLA2,IFT57,MYH15 esv271532 3 109387020 109387250 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510272,essv2496634,essv2511227,essv2504486,essv2511817,essv2504197,essv2503051,essv2493712,essv2501056,essv2498622,essv2505695,essv2513246,essv2503134,essv2497896,essv2503463,essv2502469,essv2512315,essv2493110,essv2500532,essv2505631,essv2504644,essv2506570,essv2499055,essv2499846,essv2511546 M 157 25 0 Samples from several populations that are part of the HapMap project. IFT57 NA07346,NA10851,NA11894,NA11931,NA11993,NA18499,NA18505,NA18507,NA18517,NA18856,NA18858,NA18861,NA18907,NA18943,NA18945,NA18947,NA18948,NA18949,NA18951,NA18956,NA19005,NA19099,NA19108,NA19114,NA19225 nsv829657 3 109435013 109636045 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442975 S 95 1 0 HHLA2,MYH15 esv273465 3 109530281 109531248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579332,essv2579507 M 7 2 0 Samples from several populations that are part of the HapMap project. HHLA2 NA19239,NA19240 nsv526190 3 109537381 109608304 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702452 S 2026 1 0 HHLA2,MYH15 nsv3937 3 109595462 109610786 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7844 S 9 0 1 MYH15 NA12156 esv268776 3 109621319 109621876 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494536,essv2505199,essv2495975 M 157 3 0 Samples from several populations that are part of the HapMap project. MYH15 NA18550,NA18853,NA18961 nsv829658 3 109685945 109867668 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442976 S 95 1 0 DZIP3,KIAA1524,MYH15 dgv5229n71 3 109726241 109865450 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877324,nsv877323 M 6533 0 2 DZIP3,KIAA1524,MYH15 IS30597,MS10802 nsv524016 3 109768412 109791010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699876 S 2026 0 1 KIAA1524 nsv877325 3 109795517 109865450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514408 S 6533 0 1 DZIP3 SP56004 nsv829659 3 109856425 110019667 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442977 S 95 1 0 DZIP3,RETNLB esv24174 3 109883653 109884954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20886 S 451 0 5 DZIP3 NA18508,NA18909,NA19099,NA19114,NA19147 nsv829661 3 109952695 110142223 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442978 S 95 1 0 GUCA1C,RETNLB,TRAT1 nsv522119 3 109958498 110400929 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694891 S 2026 1 0 C3orf66,FLJ22763,GUCA1C,MORC1,RETNLB,TRAT1 esv1221456 3 109961060 109961152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976971 S 2 0 1 "" HuRef nsv829662 3 110023218 110206977 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442979 S 95 1 0 GUCA1C,MORC1,TRAT1 nsv521830 3 110037946 110039115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694603 S 2026 0 1 TRAT1 nsv508236 3 110045989 110060279 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622468 S 4 0 1 TRAT1 NA18994 nsv877326 3 110052762 110101810 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590525 S 6533 1 0 TRAT1 IS38521 nsv519521 3 110066561 110068137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683624,nssv658256,nssv683954,nssv662819,nssv690819,nssv658883,nssv656655,nssv674257,nssv686205,nssv672930 M 2026 0 10 "" esv26260 3 110082133 110082593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20868 S 451 0 1 "" NA18508 nsv520181 3 110114027 110115185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661444,nssv675471,nssv679245,nssv690016 M 2026 0 4 GUCA1C nsv829663 3 110118082 110272408 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442980 S 95 1 0 GUCA1C,MORC1 esv2634761 3 110129450 110130874 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342209 S 1 0 1 GUCA1C NA18507 nsv877327 3 110134811 110196735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597880 S 6533 0 1 GUCA1C,MORC1 IS40890 nsv829664 3 110166535 110352049 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442981 S 95 1 0 FLJ22763,MORC1 nsv3938 3 110188734 110233549 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7845 S 9 0 1 MORC1 NA12156 nsv877328 3 110216778 110366760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558525 S 6533 0 1 FLJ22763,MORC1 MS23332 esv6452 3 110230038 110230116 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28893 S 1 1 0 MORC1 SJK nsv522072 3 110288055 110291677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694844 S 2026 0 1 MORC1 nsv518111 3 110293214 110293726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695524 S 2026 0 1 MORC1 nsv819011 3 110319450 110321566 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419387 S 2 1 0 MORC1 AK1 nsv829665 3 110333102 110562637 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442982 S 95 1 0 C3orf66,DPPA2,DPPA4,FLJ22763 nsv236880 3 110373391 110373459 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255458 M 24 "" nsv527912 3 110452511 110453409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704418 S 2026 0 1 "" nsv877329 3 110487160 110527270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520942 S 6533 0 1 DPPA2 SP51332 nsv877330 3 110518329 110589601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548640 S 6533 1 0 DPPA4 MS17878 esv2421541 3 110526997 110527745 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107853,essv5128977,essv5061006,essv5059894,essv5010808,essv5071970,essv5101609,essv5050996,essv5020903,essv5043228,essv5001979,essv5061457,essv5081607,essv5023916,essv5038380,essv5042072,essv5109731,essv5130974,essv5108193,essv5132683,essv5070207,essv5095301,essv5048805,essv5007909,essv5009244,essv5135335,essv5082168,essv5049141,essv5119414,essv5147764,essv5028084,essv5084504,essv5140946,essv5120429,essv5025223,essv5005530,essv5123351,essv5127182,essv5055657,essv5023014,essv5049844,essv5072828,essv5038533,essv5101386,essv5152556,essv5105009,essv5025130,essv5027151,essv5092426,essv5087841,essv5065350,essv5146886,essv5069512,essv5100062,essv5042611,essv5154891,essv5097508,essv5100725,essv5035154,essv5099660,essv5116244,essv5094795,essv5082137,essv5004209,essv5150655,essv5031186,essv5130628,essv5075302,essv5158199,essv5063711,essv5107451,essv5138141,essv5091939,essv5007884,essv5049385,essv5039057,essv5084831,essv5096366,essv5112171,essv5092667,essv5072645,essv5089584,essv5002015,essv5013938,essv5002410,essv5048782,essv5095234,essv5137480,essv5047956,essv5153531,essv5046104,essv5073784,essv5062863,essv5048048,essv5113871,essv5068951,essv5005981,essv5038753,essv5133532,essv5071895,essv5006296,essv5031358,essv5082979,essv5050367,essv5141311,essv5026228,essv5145004,essv5024042,essv5143429,essv5017806,essv5113882,essv5063491,essv5027037,essv5108644,essv5100249,essv5029526,essv5005646,essv5138763,essv5016168,essv5030340,essv5132419,essv5085920,essv5055523,essv5157539,essv5105826,essv5059261,essv5033472,essv5099019,essv5096327,essv5036678,essv5092156,essv5048407,essv5037115,essv5079100,essv5020113,essv5023396,essv5108394,essv5012706,essv5022991,essv5119794,essv5044718,essv5074454,essv5034314,essv5059621,essv5156327,essv5156489,essv5144176,essv5157227,essv5002029,essv5038479,essv5102036,essv5137002,essv5155564,essv5033111,essv5149426,essv5118982,essv5064771,essv5061798,essv5014587,essv5093572,essv5070063,essv5011103,essv5015935,essv5055547,essv5137754,essv5148789,essv5072228,essv5106295,essv5051583,essv5085502,essv5097724,essv5042825,essv5137705,essv5005760,essv5030977,essv5158844,essv5081007,essv5094040,essv5077832,essv5006598,essv5094922,essv5009251,essv5025620,essv5105025,essv5073475,essv5013301,essv5049793,essv5022567,essv5153815,essv5006999,essv5159572,essv5151947,essv5020771,essv5145764,essv5041887,essv5078759,essv5087442,essv5157264,essv5156549,essv5138684,essv5093815,essv5150121,essv5038848,essv5099640,essv5033220,essv5130158,essv5024114,essv5021654,essv5067296,essv5156318,essv5108680,essv5061938,essv5076788,essv5147927,essv5143773,essv5043441,essv5101652,essv5040110,essv5046006,essv5109253,essv5027604,essv5023317,essv5150279,essv5111666,essv5131636,essv5153748,essv5154675,essv5074216,essv5108084,essv5129298,essv5058243,essv5087231,essv5098388,essv5046298,essv5093765,essv5120918 M 1184 0 236 DPPA4 NA18484,NA18488,NA18497,NA18498,NA18503,NA18505,NA18506,NA18507,NA18508,NA18509,NA18511,NA18518,NA18519,NA18520,NA18853,NA18854,NA18862,NA18868,NA18870,NA18871,NA18872,NA18909,NA18912,NA18914,NA18916,NA18923,NA18924,NA18925,NA18930,NA18956,NA18966,NA19027,NA19031,NA19036,NA19038,NA19041,NA19087,NA19099,NA19101,NA19103,NA19108,NA19113,NA19117,NA19118,NA19119,NA19121,NA19123,NA19127,NA19130,NA19132,NA19138,NA19139,NA19150,NA19151,NA19159,NA19160,NA19161,NA19172,NA19174,NA19175,NA19184,NA19192,NA19207,NA19209,NA19211,NA19214,NA19215,NA19223,NA19224,NA19226,NA19235,NA19236,NA19237,NA19256,NA19257,NA19258,NA19308,NA19310,NA19314,NA19315,NA19317,NA19327,NA19332,NA19347,NA19352,NA19359,NA19360,NA19375,NA19376,NA19377,NA19381,NA19382,NA19384,NA19393,NA19398,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19437,NA19438,NA19443,NA19444,NA19445,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19468,NA19471,NA19473,NA19474,NA19625,NA19651,NA19713,NA19723,NA19773,NA19776,NA19783,NA19789,NA19819,NA19901,NA19904,NA19908,NA19915,NA19917,NA19919,NA19982,NA19983,NA20127,NA20128,NA20129,NA20284,NA20287,NA20289,NA20290,NA20332,NA20333,NA20341,NA20342,NA20356,NA20357,NA20758,NA20771,NA21297,NA21300,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21317,NA21320,NA21333,NA21336,NA21339,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21362,NA21364,NA21370,NA21379,NA21385,NA21386,NA21387,NA21391,NA21414,NA21420,NA21421,NA21423,NA21434,NA21435,NA21438,NA21440,NA21442,NA21453,NA21454,NA21455,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21494,NA21517,NA21519,NA21520,NA21522,NA21524,NA21526,NA21527,NA21528,NA21529,NA21576,NA21578,NA21580,NA21582,NA21583,NA21587,NA21613,NA21631,NA21635,NA21636,NA21648,NA21650,NA21678,NA21682,NA21685,NA21686,NA21693,NA21716,NA21717,NA21733,NA21739,NA21741,NA21768,NA21776,NA21784,NA21826 nsv877331 3 110540087 110692993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575401 S 6533 0 1 FLJ25363 IS33738 nsv3939 3 110573889 110601007 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3189 S 9 1 0 "" NA12878 dgv820n67 3 110586160 110588145 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822218,nsv822217 M 31 0 6 "" AK16,AK18,AK4,NA18566,NA18947,NA18951 nsv822219 3 110587074 110587566 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423291 S 31 0 1 "" NA18999 nsv460814 3 110677736 110864118 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537318 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ25363 HGDP01179 nsv470827 3 110677736 110916545 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547701 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ25363 HGDP01179 nsv237670 3 110730862 110730862 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256248 M 24 "" esv1144020 3 110730865 110730865 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811348 S 2 1 0 "" HuRef nsv507116 3 110862924 110868924 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621715 S 4 1 0 "" NA10860 esv2555952 3 110897138 110899731 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247074 S 1 0 1 "" NA18507 esv22835 3 110897789 110899289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18949 S 451 0 1 "" NA18505 nsv460815 3 110930153 110966992 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537319 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00881 esv4815 3 110971724 110972142 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27256 S 1 0 1 Single Asian sample YH "" YH esv1342333 3 110991500 110991550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969090 S 2 0 1 "" HuRef nsv877332 3 111058454 111669301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535705 S 6533 1 0 "" MS12406 esv1566682 3 111063578 111063706 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841950 S 2 0 1 "" HuRef nsv829666 3 111076435 111251342 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442983 S 95 1 0 "" nsv236806 3 111121244 111130331 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255384 M 24 "" esv27282 3 111129622 111130661 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16913 S 451 1 0 "" NA19108 nsv525501 3 111133475 111136765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701633 S 2026 0 1 "" nsv520310 3 111160544 111172328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691387,nssv691388,nssv662769 M 2026 0 3 "" esv270698 3 111180424 111180795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511022,essv2512404,essv2503439,essv2507721,essv2511740,essv2493151,essv2504121,essv2502982,essv2509915,essv2493740,essv2498423,essv2499204,essv2503926,essv2499603,essv2513050 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10847,NA11831,NA12043,NA12716,NA12751,NA18499,NA18504,NA18505,NA18507,NA18508,NA18517,NA18858,NA19114 nsv877333 3 111182149 111259101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534101 S 6533 0 1 "" MS11467 nsv829667 3 111269352 111422361 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442984 S 95 0 1 "" nsv3940 3 111308640 111353032 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4665 S 9 0 1 "" NA19129 nsv516356 3 111340487 111340801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692096,nssv667753 M 2026 0 2 "" nsv829668 3 111439093 111577905 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442986,nssv1442987 M 95 1 1 "" nsv517829 3 111443487 111443884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695234 S 2026 0 1 "" dgv5230n71 3 111465959 111544366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877334,nsv877335 M 6533 0 2 "" IS34400,MS23340 nsv460818 3 111489895 111638514 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537320 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00529 dgv1485e1 3 111495856 111578020 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4890,esv368 M 271 0 0 "" NA18561 nsv829669 3 111505414 111671087 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442988 S 95 1 0 "" nsv460819 3 111563583 111676716 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537321 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv877336 3 111565735 111626581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601031 S 6533 0 1 "" IS41964 nsv470838 3 111565735 111676716 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547712 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv877337 3 111574317 111669301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581631,nssv1596739,nssv1579100 M 6533 0 3 "" IS35018,IS35675,IS40627 esv269250 3 111596503 111596833 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576278,essv2562671,essv2578780,essv2550031,essv2558773,essv2527257,essv2561739,essv2565204,essv2534695,essv2549531,essv2556325,essv2533971,essv2573070,essv2538531,essv2549916 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA18507,NA18510,NA18511,NA18516,NA18522,NA18523,NA18558,NA18561,NA18564,NA18871,NA18916,NA18942,NA19108,NA19225 nsv829670 3 111617340 111790946 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442989 S 95 1 0 "" esv267833 3 111622797 111622882 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519494 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 nsv520365 3 111637862 111923855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697374 S 2026 0 1 "" nsv829672 3 111689383 111844322 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442991,nssv1442992,nssv1442990 M 95 3 0 "" esv274413 3 111753682 111753795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579282,essv2579616 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267997 3 111753689 111753973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543886,essv2548562,essv2535270,essv2552180,essv2520281,essv2553885,essv2537709,essv2528209,essv2532228,essv2558868,essv2539086,essv2527383,essv2566091,essv2566708,essv2551095,essv2543489,essv2575658,essv2575183,essv2560637,essv2574855,essv2568455,essv2551369,essv2538083,essv2533355,essv2554629,essv2563188 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10847,NA11992,NA12045,NA12249,NA12489,NA12716,NA12763,NA12878,NA12891,NA18505,NA18516,NA18519,NA18522,NA18572,NA18853,NA18858,NA18870,NA19099,NA19102,NA19116,NA19138,NA19147,NA19257 nsv526057 3 111753973 111766406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702295 S 2026 0 1 "" nsv460820 3 111766406 111803725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537322 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01103 nsv829673 3 111860759 112013505 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442993 S 95 0 1 "" nsv3941 3 111868480 111913213 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7846 S 9 0 1 "" NA12156 esv2481351 3 111895518 111896492 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384532 S 1 1 0 "" NA18507 esv270474 3 111896057 111896267 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511016,essv2495405,essv2511471,essv2504438,essv2508002,essv2500203,essv2499450,essv2508074,essv2512241,essv2513144,essv2495842,essv2508528,essv2507786,essv2503814,essv2494237,essv2503330,essv2513015,essv2497826,essv2507860,essv2507628,essv2508705,essv2510022,essv2512861,essv2507491,essv2500897,essv2503507,essv2512317,essv2500525,essv2503701,essv2495123,essv2502723,essv2509557,essv2503603,essv2495762,essv2503891,essv2495071 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA11831,NA11919,NA11920,NA11993,NA12003,NA12006,NA12044,NA12045,NA12155,NA12249,NA12489,NA12717,NA12751,NA12761,NA18502,NA18542,NA18547,NA18555,NA18564,NA18576,NA18592,NA18593,NA18609,NA18638,NA18856,NA18947,NA18949,NA18956,NA18960,NA18964,NA18965,NA19129 nsv507117 3 111958174 111964174 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620221 S 4 1 0 "" NA15510 nsv507118 3 112022586 112028586 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622866,nssv617612,nssv620222,nssv621716 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv829674 3 112098946 112253739 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442994 S 95 1 0 PVRL3-AS1 nsv460821 3 112120161 112983787 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537323 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD96,PHLDB2,PLCXD2,PVRL3,PVRL3-AS1,ZBED2 HGDP00025 esv2362581 3 112159841 112160266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740598 S 1 0 1 "" NA18507 esv24413 3 112176763 112181886 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10798 S 451 0 2 "" NA18502,NA19108 nsv3942 3 112180391 112214967 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv316 S 9 1 0 "" NA19240 esv271123 3 112302240 112302573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496877,essv2494189,essv2496571,essv2506099,essv2504878,essv2497505 M 157 6 0 Samples from several populations that are part of the HapMap project. PVRL3 NA18498,NA18502,NA18510,NA18523,NA19099,NA19147 nsv877338 3 112307115 112342878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499966,nssv1513182 M 6533 0 2 PVRL3 SP50120,SP55694 nsv829675 3 112368295 112584548 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442995 S 95 1 0 PVRL3 nsv877339 3 112372664 112553244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548641 S 6533 1 0 PVRL3 MS17878 nsv3944 3 112403906 112438454 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3190 S 9 1 0 "" NA12878 nsv3945 3 112404719 112449934 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7847 S 9 0 1 "" NA12156 esv267695 3 112470130 112470485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500845,essv2495410,essv2499350,essv2502286,essv2512426,essv2505554,essv2512223,essv2513186,essv2508556,essv2508381,essv2504989,essv2510785,essv2504140,essv2509780,essv2509077,essv2508773,essv2500469,essv2503311,essv2497243,essv2508248,essv2507846,essv2506340,essv2511300,essv2494482,essv2512713,essv2508643,essv2496093,essv2499231,essv2505195,essv2498499,essv2505894,essv2507247,essv2509354,essv2504958,essv2503155,essv2497871,essv2502484,essv2493087,essv2500509,essv2495925,essv2505628,essv2504621,essv2506459,essv2499132,essv2498753,essv2499705,essv2502239,essv2499559,essv2513113 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11830,NA11919,NA11994,NA12004,NA12043,NA12154,NA12155,NA12249,NA12717,NA12749,NA12828,NA18501,NA18505,NA18508,NA18522,NA18532,NA18537,NA18542,NA18552,NA18561,NA18564,NA18566,NA18570,NA18572,NA18577,NA18592,NA18603,NA18605,NA18853,NA18858,NA18861,NA18870,NA18909,NA18942,NA18943,NA18945,NA18948,NA18951,NA18956,NA18961,NA19005,NA19099,NA19108,NA19114,NA19138,NA19225,NA19257 nsv522010 3 112604650 112614202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694779 S 2026 0 1 "" esv269884 3 112709033 112709372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558026,essv2565609,essv2576085,essv2540702,essv2546511,essv2521186,essv2525889,essv2536609,essv2523041,essv2544143,essv2568296,essv2545548,essv2523153,essv2532024,essv2570737,essv2548268,essv2521577,essv2554225,essv2529099,essv2558391,essv2564343,essv2577877,essv2553832,essv2520181,essv2563973,essv2530753,essv2561863,essv2537270,essv2528205,essv2546707,essv2562790,essv2536919,essv2561734,essv2544703,essv2523869,essv2542796,essv2540407,essv2524420,essv2565097,essv2534898,essv2560960,essv2549376,essv2522212,essv2532805,essv2568028,essv2570083,essv2563577,essv2535862,essv2559072,essv2566767,essv2542098,essv2551193,essv2528152,essv2572955,essv2555379,essv2533702,essv2555755,essv2567160,essv2566636,essv2527621,essv2555903,essv2534472,essv2531380,essv2573603,essv2525572,essv2575016,essv2560578,essv2574976,essv2568590,essv2545044,essv2536331,essv2537852,essv2549005,essv2533390,essv2554455,essv2547744,essv2524822,essv2563193 M 157 78 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12287,NA12749,NA12750,NA12751,NA12761,NA12763,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18507,NA18517,NA18523,NA18526,NA18537,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18571,NA18576,NA18577,NA18593,NA18603,NA18608,NA18638,NA18853,NA18856,NA18858,NA18907,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18952,NA18956,NA18959,NA18961,NA18964,NA18980,NA19102,NA19116,NA19138,NA19147,NA19172 esv272523 3 112709033 112709372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581987,essv2582539,essv2583071 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1561675 3 112709065 112709065 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286248 S 2 1 0 "" HuRef nsv3946 3 112718725 112765728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7020,nssv317 M 9 0 2 CD96 NA12156,NA19240 esv2466211 3 112725697 112732228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298327 S 1 0 1 "" NA18507 nsv513066 3 112725710 112731749 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626551 S 1 0 1 "" 1 dgv82n16 3 112726169 112732294 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435756,nsv436392 M 2 0 2 "" NA15510,NA18505 esv2113452 3 112726190 112731782 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888228 S 1 0 1 "" NA18507 nsv499010 3 112726310 112731724 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585871 S 9 0 1 "" esv21644 3 112726366 112729979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16326 S 451 0 3 "" NA12156,NA12828,NA18508 esv269944 3 112754119 112754447 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540079,essv2557034,essv2551712,essv2558767,essv2527874,essv2539366,essv2574575,essv2572693 M 157 8 0 Samples from several populations that are part of the HapMap project. CD96 NA18489,NA18501,NA18504,NA18516,NA18907,NA18912,NA19138,NA19143 nsv433354 3 112764554 112767251 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463235 S 9 0 1 Samples from several populations that are part of the HapMap project. CD96 NA18956 nsv3947 3 112942282 112975055 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7021 S 9 1 0 PHLDB2,PLCXD2 NA12156 nsv829676 3 112946777 113101890 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442997 S 95 1 0 PHLDB2,PLCXD2 esv2635192 3 112981374 112982348 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247966 S 1 1 0 PHLDB2,PLCXD2 NA18507 esv1055295 3 113034328 113034458 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125558 S 2 0 1 PHLDB2,PLCXD2 HuRef esv1320651 3 113174113 113174113 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917832 S 2 1 0 PHLDB2 HuRef esv269386 3 113195002 113195329 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525831,essv2536648,essv2523364,essv2577359,essv2577779,essv2537627,essv2547073,essv2540004,essv2556964,essv2569476,essv2578734,essv2550117,essv2539095,essv2566935,essv2551167,essv2527752,essv2562385,essv2533863,essv2530139,essv2529523,essv2538555,essv2526657,essv2524089,essv2545950,essv2536290 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11918,NA11920,NA12004,NA12043,NA12761,NA12878,NA12892,NA18489,NA18501,NA18508,NA18510,NA18511,NA18519,NA18853,NA18858,NA18907,NA18909,NA18916,NA18949,NA19093,NA19108,NA19114,NA19129,NA19239 esv272583 3 113195003 113195330 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581996,essv2583266,essv2584685 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 esv26037 3 113196331 113197048 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11583 S 451 1 0 "" NA19099 esv1008241 3 113352533 113369438 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563639 S 3 1 0 SLC9A10 HuRef nsv3948 3 113354596 113371682 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5979,nssv10356,nssv2407,nssv11068,nssv318 M 9 5 0 SLC9A10 NA15510,NA18555,NA18956,NA19129,NA19240 nsv242 3 113356828 113368809 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv242 S 1 1 0 SLC9A10 NA15510 nsv508945 3 113360146 113369971 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623380,nssv620771,nssv618018 M 4 3 0 SLC9A10 CHM,NA15510,NA18994 nsv474525 3 113365971 113366038 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557895 S 9 1 0 Samples from several populations that are part of the HapMap project. SLC9A10 NA18956 nsv499193 3 113365971 113366038 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586403 S 9 1 0 SLC9A10 nsv10307 3 113386664 113570376 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28859 S 31 1 0 Samples from several populations that are part of the HapMap project. CD200,SLC9A10 NA07029 esv1685233 3 113407165 113407165 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097119 S 2 1 0 SLC9A10 HuRef nsv877340 3 113419651 113496236 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530097 S 6533 0 1 SLC9A10 MS10203 nsv3949 3 113481202 113526750 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7022 S 9 0 1 SLC9A10 NA12156 nsv877341 3 113561967 113608211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548642 S 6533 1 0 CD200 MS17878 esv2547495 3 113567266 113568701 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327279 S 1 0 1 "" NA18507 nsv818165 3 113585830 113596024 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416142 S 112 0 1 "" NA12891 nsv516790 3 113585830 113597506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682374,nssv687501,nssv683542,nssv676013,nssv654448,nssv674639,nssv670889 M 2026 0 7 "" dgv1486e1 3 113587565 113596024 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18779,esv1397 M 271 0 0 "" NA12891 nsv3950 3 113637816 113669886 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7023 S 9 1 0 BTLA NA12156 nsv877342 3 113667715 113815319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558260 S 6533 1 0 ATG3,BTLA,CCDC80,SLC35A5 MS23184 esv272571 3 113745481 113745817 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584725,essv2583840 M 7 2 0 Samples from several populations that are part of the HapMap project. ATG3 NA19239,NA19240 esv2491896 3 113776692 113778196 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337898 S 1 0 1 SLC35A5 NA18507 esv269780 3 113936138 113936476 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514579,essv2519184,essv2517481,essv2516970,essv2518629,essv2514952,essv2517966,essv2517870,essv2516163,essv2516882,essv2513599 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11894,NA11918,NA11931,NA12287,NA12812,NA12872,NA12878,NA12891,NA12892 esv272795 3 113936158 113936484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581829,essv2582355,essv2583181 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1561376 3 113936195 113936195 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709996 S 2 1 0 "" HuRef esv274505 3 113949383 113950993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580809,essv2579582 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv2596946 3 113949599 113951161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222162 S 1 0 1 "" NA18507 esv2035171 3 113949879 113950614 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745840 S 1 0 1 "" NA18507 esv3691 3 113950038 113950556 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26132 S 1 0 1 Single Asian sample YH "" YH esv9155 3 113950085 113950403 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31596 S 1 0 1 "" SJK nsv236895 3 113950092 113950421 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255473 M 24 "" nsv877343 3 113953276 114080396 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548643 S 6533 1 0 CD200R1L MS17878 esv274142 3 114041914 114045191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581075 S 7 1 0 Samples from several populations that are part of the HapMap project. CD200R1L NA19240 esv271852 3 114056319 114056561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511444,essv2502917,essv2512584,essv2498287,essv2506393,essv2512637,essv2511607,essv2512323,essv2493092,essv2503614 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11920,NA12156,NA18489,NA18526,NA18566,NA18577,NA18940,NA18949,NA18951 nsv509845 3 114102923 114108923 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622031 S 4 0 1 "" NA10860 nsv513067 3 114225771 114235287 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626552 S 1 0 1 "" 1 esv1096242 3 114226773 114234972 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955380 S 2 0 1 "" HuRef nsv3951 3 114242244 114282926 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7848 S 9 0 1 "" NA12156 nsv877344 3 114272555 114337029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548644 S 6533 1 0 "" MS17878 nsv877345 3 114308943 114331541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551238 S 6533 1 0 "" MS18837 nsv522974 3 114314753 114319079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698644 S 2026 0 1 "" nsv518148 3 114327865 114329476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695569 S 2026 0 1 "" nsv515688 3 114329421 114329476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692097,nssv664409 M 2026 0 2 "" nsv829677 3 114339765 114521677 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1442998 S 95 1 0 BOC,WDR52 nsv517636 3 114361226 114376330 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689859,nssv652632,nssv699604 M 2026 3 0 "" dgv5231n71 3 114376330 114421373 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877347,nsv877346 M 6533 2 0 BOC SP51380,SP81345 nsv877348 3 114397446 114495199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548645 S 6533 1 0 BOC,WDR52 MS17878 nsv521829 3 114490215 114493640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694101 S 2026 0 1 WDR52 esv2129010 3 114521792 114522224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506626 S 1 0 1 WDR52 NA18507 esv268482 3 114529813 114530156 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516428,essv2518090,essv2514467,essv2517853,essv2516260,essv2519107,essv2513986,essv2518911 M 157 8 0 Samples from several populations that are part of the HapMap project. WDR52 NA12814,NA12872,NA12874,NA12878,NA12891,NA19141,NA19143,NA19239 esv274342 3 114529818 114530151 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581953,essv2582653,essv2584786 M 7 3 0 Samples from several populations that are part of the HapMap project. WDR52 NA12878,NA12891,NA19239 nsv237142 3 114600960 114601096 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255720 M 24 WDR52 nsv822221 3 114617786 114618231 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425008 S 31 0 1 WDR52 NA18968 dgv5232n71 3 114690914 114814925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877349,nsv877350 M 6533 0 2 MIR4446,SIDT1,SPICE1 SP50802,SP81251 nsv237228 3 114691396 114693161 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255806 M 24 SPICE1 nsv509846 3 114697033 114703033 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618583 S 4 0 1 SPICE1 CHM nsv524086 3 114737862 114747684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699956 S 2026 0 1 SIDT1 esv2265706 3 114758231 114758730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701090 S 1 0 1 SIDT1 NA18507 nsv819838 3 114852547 114852870 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418660 S 2 0 1 KIAA2018 AK1 esv2424021 3 114911040 114912644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362984 S 1 0 1 "" NA18507 nsv519099 3 114919537 114933185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696573 S 2026 0 1 NAA50 nsv829678 3 114928867 115115743 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443013,nssv1443012,nssv1443008,nssv1443006,nssv1443010,nssv1443009,nssv1443011,nssv1443014,nssv1443005,nssv1443000,nssv1442999,nssv1443004,nssv1443003,nssv1443002,nssv1443001 M 95 0 15 ATP6V1A,GRAMD1C,NAA50 nsv877351 3 114933185 115120114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565927 S 6533 0 1 ATP6V1A,GRAMD1C,NAA50 IS30539 esv2588841 3 114962876 114964427 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271455 S 1 0 1 ATP6V1A NA18507 nsv460822 3 115025771 115083660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537324 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRAMD1C HGDP00622 nsv516703 3 115042710 115097933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684261,nssv671613,nssv673752,nssv670271 M 2026 0 4 GRAMD1C dgv617n27 3 115068323 115102562 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460824,nsv460825 M 1557 0 2 GRAMD1C HGDP00899,NINDS_63 esv25178 3 115148963 115150115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18952 S 451 0 1 ZDHHC23 NA07045 nsv822222 3 115226239 115227168 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421605 S 31 0 1 KIAA1407 NA18997 nsv877352 3 115226700 115352768 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587904 S 6533 1 0 DRD3,KIAA1407,QTRTD1 IS38131 nsv877353 3 115271719 115362252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548646 S 6533 1 0 DRD3,QTRTD1 MS17878 esv259489 3 115335047 115335307 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394137 S 6 0 0 Samples from several populations that are part of the HapMap project. DRD3 NA12878 esv1358990 3 115335210 115335210 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953359 S 2 1 0 DRD3 HuRef esv2537070 3 115336473 115338033 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172115 S 1 0 1 DRD3 NA18507 esv990133 3 115336602 115337313 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565482 S 3 0 1 DRD3 HuRef esv2841 3 115336644 115337103 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25282 S 1 0 1 Single Asian sample YH DRD3 YH esv1006467 3 115336712 115337037 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569802 S 3 0 1 DRD3 HuRef nsv236315 3 115336712 115337037 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254893 M 24 DRD3 dgv25e197 3 115336712 115337045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2636309,esv2539091 M 1 0 1 DRD3 NA18507 esv9452 3 115336718 115337039 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31893 S 1 0 1 DRD3 SJK esv1654104 3 115336723 115337049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841926 S 2 0 1 DRD3 HuRef nsv237833 3 115358389 115358439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256411 M 24 DRD3 nsv519379 3 115437877 115438010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694326 S 2026 0 1 ZNF80 esv2043603 3 115504924 115505310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501611 S 1 0 1 TIGIT NA18507 esv1507464 3 115505064 115505136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958905 S 2 0 1 TIGIT HuRef nsv822223 3 115506692 115509538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435784 S 31 0 1 TIGIT NA18566 nsv441835 3 115506749 115509270 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TIGIT nsv829679 3 115532618 115735425 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443015 S 95 1 0 ZBTB20,ZBTB20-AS1 dgv77n68 3 115611212 115793167 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv829681,nsv829680 M 95 3 0 ZBTB20 nsv3952 3 115616635 115651228 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3191 S 9 1 0 ZBTB20 NA12878 esv998582 3 115632894 115641901 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563631 S 3 0 1 ZBTB20 HuRef esv22752 3 115771332 115773561 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10742 S 451 0 1 ZBTB20 NA12006 esv2535300 3 115847231 115848260 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207888 S 1 1 0 ZBTB20 NA18507 esv272930 3 115847587 115847836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580119,essv2580319 M 7 2 0 Samples from several populations that are part of the HapMap project. ZBTB20 NA12878,NA12891 esv267795 3 115847597 115847928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570939,essv2568218,essv2570412,essv2576726,essv2554069,essv2553611,essv2530745,essv2530480,essv2540193,essv2551705,essv2532305,essv2562758,essv2569463,essv2578633,essv2536854,essv2539193,essv2569761,essv2534902,essv2519641,essv2560020,essv2522237,essv2563836,essv2566733,essv2543454,essv2562157,essv2539301,essv2534023,essv2567101,essv2529860,essv2527657,essv2534378,essv2543113,essv2576987,essv2529451,essv2575521,essv2575214,essv2538739,essv2526431,essv2574673,essv2568659,essv2560451,essv2548134,essv2571476,essv2551636,essv2563120,essv2557877 M 157 46 0 Samples from several populations that are part of the HapMap project. ZBTB20 NA10847,NA10851,NA11993,NA11995,NA12044,NA12154,NA12287,NA12763,NA12873,NA18486,NA18489,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18561,NA18566,NA18570,NA18571,NA18603,NA18853,NA18870,NA18909,NA18912,NA18916,NA18947,NA18949,NA18952,NA18959,NA18965,NA18970,NA19093,NA19099,NA19102,NA19108,NA19114,NA19138,NA19147,NA19190,NA19210,NA19238,NA19257 esv2438147 3 115948298 115949988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235646 S 1 0 1 ZBTB20 NA18507 esv1006341 3 115948684 115949505 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564568 S 3 0 1 ZBTB20 HuRef esv2097985 3 115948976 115949689 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912481 S 1 0 1 ZBTB20 NA18507 esv1002866 3 115949164 115949487 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566160 S 3 0 1 ZBTB20 HuRef nsv237808 3 115949165 115949488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256386 M 24 ZBTB20 esv2572379 3 115949167 115949490 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291775 S 1 0 1 ZBTB20 NA18507 esv8517 3 115949170 115949482 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30958 S 1 0 1 ZBTB20 SJK esv1548513 3 115949174 115949498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826232 S 2 0 1 ZBTB20 HuRef esv267895 3 115988138 115988223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516356 S 157 1 0 Samples from several populations that are part of the HapMap project. ZBTB20 NA12814 esv2577063 3 115992968 115994338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253060 S 1 0 1 ZBTB20 NA18507 nsv521467 3 116007335 116158336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698078 S 2026 0 1 ZBTB20 dgv5233n71 3 116113331 116194043 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877354,nsv877355 M 6533 0 4 ZBTB20 IS30635,IS31369,IS35771,MS20872 nsv3953 3 116134773 116162034 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9382 S 9 0 1 ZBTB20 NA18517 nsv10308 3 116137943 116155489 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12750,nssv12194,nssv12073,nssv28975,nssv12087 M 31 0 5 Samples from several populations that are part of the HapMap project. ZBTB20 NA18504,NA18517,NA19132,NA19144,NA19221 esv2599243 3 116138645 116151650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379290 S 1 0 1 ZBTB20 NA18507 esv2505508 3 116139117 116150514 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273195 S 1 0 1 ZBTB20 NA18507 nsv436390 3 116139177 116152319 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466026 S 2 0 1 Samples from several populations that are part of the HapMap project. ZBTB20 NA18505 nsv499011 3 116139642 116151298 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585872 S 9 0 1 ZBTB20 esv21675 3 116140442 116151019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17966 S 451 0 8 ZBTB20 NA18505,NA18517,NA19099,NA19108,NA19114,NA19147,NA19225,NA19257 nsv514164 3 116141496 116147008 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627599 S 1414 0 1 ZBTB20 nsv437878 3 116141496 116150586 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471360,nssv471367,nssv471370,nssv471364,nssv471361,nssv471366,nssv471365,nssv471356,nssv471354,nssv471363,nssv471362,nssv471369,nssv471355,nssv471359,nssv471358 M 269 0 15 Samples from several populations that are part of the HapMap project. ZBTB20 NA18506,NA18507,NA18515,NA18516,NA18517,NA18871,NA18872,NA19130,NA19132,NA19160,NA19161,NA19192,NA19194,NA19203,NA19205 esv2421899 3 116143282 116151640 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5074458,essv5037023,essv5154435,essv5096217,essv5010795,essv5084809,essv5135392,essv5108191,essv5140934,essv5102843,essv5005214,essv5039911,essv5038209,essv5089931,essv5133055,essv5044962,essv5065080,essv5048226,essv5025944,essv5120263,essv5095218,essv5156340,essv5071814,essv5068380,essv5134994,essv5016627,essv5078383,essv5044553,essv5111631,essv5101847,essv5069196,essv5073058,essv5096553,essv5021064,essv5080598,essv5027888,essv5014866,essv5005751,essv5095310,essv5153207,essv5106794,essv5002341,essv5039611,essv5022033,essv5139144,essv5057688,essv5091697,essv5139681,essv5040230,essv5112889,essv5149738,essv5143877,essv5056008,essv5124136,essv5034826,essv5077307,essv5155469,essv5122869,essv5089531,essv5091579,essv5122027,essv5025925,essv5105030,essv5083654,essv5123350,essv5057291,essv5008502,essv5157504,essv5100035,essv5145848,essv5028688,essv5007523,essv5065816,essv5095345,essv5030987,essv5146979,essv5031013,essv5090776,essv5107558,essv5121769,essv5064678,essv5043650,essv5013975,essv5158135,essv5099862,essv5159902,essv5089756,essv5085792,essv5003534,essv5102917,essv5112742,essv5125728,essv5105454,essv5075618,essv5013997,essv5128077,essv5083734,essv5087174,essv5114112,essv5142280,essv5077828,essv5061381,essv5080162,essv5052219,essv5029104,essv5075803,essv5029827,essv5141152,essv5098420,essv5098253,essv5019179,essv5074014,essv5030068,essv5043914,essv5128152,essv5111654,essv5003003,essv5014101,essv5057749,essv5083991,essv5014137,essv5052435,essv5077040,essv5006778,essv5086570,essv5134729,essv5061716,essv5086496,essv5031078,essv5108340,essv5038564,essv5010701,essv5140964,essv5130053,essv5116233,essv5110245,essv5012402,essv5105562,essv5037759,essv5105135,essv5059345,essv5132442,essv5108263,essv5125463,essv5012315,essv5062287,essv5097728,essv5077781,essv5079560,essv5068169,essv5029131,essv5150056,essv5076635,essv5146503,essv5047628,essv5075549,essv5050073,essv5008582,essv5134640,essv5111877,essv5118248,essv5153619,essv5140125,essv5107405,essv5088076,essv5016054,essv5094778,essv5086760,essv5143041,essv5090728,essv5066591,essv5002089,essv5017022,essv5125597,essv5054310,essv5122420,essv5034695,essv5160295,essv5043619,essv5060032,essv5046745,essv5025700,essv5154109,essv5136931,essv5027009,essv5083830,essv5158050,essv5131410,essv5083921,essv5050398,essv5083587,essv5060824,essv5083137,essv5140725,essv5035759,essv5025496,essv5065130,essv5130736,essv5062353,essv5009494,essv5091779,essv5009296,essv5103694,essv5023307,essv5140516,essv5033623,essv5032066,essv5020765,essv5151858,essv5109348,essv5092456,essv5134521,essv5081452,essv5135469,essv5127733,essv5152321,essv5031000,essv5131164,essv5082714,essv5020501,essv5064354,essv5085215,essv5055071,essv5026265,essv5065347,essv5108343,essv5075512,essv5046864,essv5091113,essv5075798,essv5160043,essv5014287,essv5002877,essv5135005,essv5029532,essv5022538,essv5108990,essv5118164,essv5157452,essv5034655,essv5098103,essv5046273,essv5019825,essv5010003,essv5057871,essv5069326,essv5107999,essv5023212,essv5010680,essv5113395,essv5024567,essv5058506,essv5113923,essv5147368,essv5058977,essv5142314,essv5087285,essv5151510,essv5065210,essv5145559,essv5093763,essv5019111,essv5030767,essv5050424,essv5111756,essv5062368,essv5093294,essv5035099,essv5048053,essv5158920,essv5062415,essv5157824,essv5035836,essv5084649,essv5139258,essv5111028,essv5023134,essv5140081,essv5156038,essv5070680 M 1184 0 280 ZBTB20 NA10843,NA11917,NA11919,NA18484,NA18485,NA18486,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18619,NA18636,NA18702,NA18852,NA18855,NA18857,NA18859,NA18862,NA18870,NA18871,NA18872,NA18873,NA18875,NA18910,NA18911,NA18913,NA18923,NA18924,NA18925,NA18934,NA18981,NA19028,NA19036,NA19041,NA19044,NA19046,NA19078,NA19086,NA19093,NA19094,NA19095,NA19098,NA19099,NA19102,NA19108,NA19113,NA19114,NA19115,NA19116,NA19122,NA19127,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19159,NA19160,NA19161,NA19171,NA19175,NA19176,NA19178,NA19179,NA19180,NA19182,NA19183,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19204,NA19209,NA19210,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19225,NA19236,NA19237,NA19239,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19319,NA19324,NA19332,NA19334,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19379,NA19380,NA19385,NA19390,NA19393,NA19396,NA19398,NA19399,NA19428,NA19430,NA19434,NA19436,NA19437,NA19444,NA19446,NA19451,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19470,NA19472,NA19474,NA19678,NA19703,NA19708,NA19712,NA19747,NA19748,NA19819,NA19834,NA19835,NA19836,NA19900,NA19902,NA19914,NA19915,NA19916,NA19918,NA19921,NA19982,NA20127,NA20129,NA20276,NA20287,NA20288,NA20292,NA20300,NA20319,NA20332,NA20337,NA20340,NA20342,NA20343,NA20344,NA20346,NA20347,NA20348,NA20350,NA20357,NA20360,NA20512,NA20847,NA20849,NA20851,NA20856,NA20858,NA20866,NA20883,NA20887,NA20894,NA20895,NA20897,NA20902,NA20903,NA20904,NA21091,NA21098,NA21103,NA21111,NA21118,NA21137,NA21295,NA21297,NA21303,NA21308,NA21316,NA21318,NA21336,NA21359,NA21363,NA21364,NA21371,NA21381,NA21382,NA21383,NA21384,NA21387,NA21389,NA21408,NA21418,NA21434,NA21436,NA21448,NA21451,NA21457,NA21478,NA21480,NA21486,NA21491,NA21513,NA21514,NA21519,NA21520,NA21524,NA21525,NA21526,NA21529,NA21597,NA21608,NA21611,NA21614,NA21615,NA21631,NA21647,NA21648,NA21678,NA21685,NA21686,NA21689,NA21693,NA21733,NA21741,NA21776,NA21826 nsv442871 3 116143282 116151640 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZBTB20 nsv433365 3 116143746 116150586 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463246 S 9 0 1 Samples from several populations that are part of the HapMap project. ZBTB20 NA18517 nsv437337 3 116143876 116154381 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467218 S 60 0 1 Samples from several populations that are part of the HapMap project. ZBTB20 NA18506 nsv829683 3 116174694 116351519 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443020 S 95 1 0 ZBTB20 esv29079 3 116348748 116349298 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13020 S 451 0 1 ZBTB20 NA12239 esv273798 3 116397753 116398087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581770,essv2583191,essv2583972 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv271300 3 116397753 116398089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565747,essv2542587,essv2545316,essv2564075,essv2530822,essv2537462,essv2547108,essv2557350,essv2552692,essv2569219,essv2578760,essv2527173,essv2544682,essv2563045,essv2523494,essv2552809,essv2538301,essv2542965,essv2534709,essv2549358,essv2519689,essv2560005,essv2522194,essv2566248,essv2532814,essv2567399,essv2541685,essv2570196,essv2563870,essv2553281,essv2535669,essv2559280,essv2543707,essv2533860,essv2578275,essv2533718,essv2555616,essv2566444,essv2530037,essv2573854,essv2527656,essv2557683,essv2556101,essv2534407,essv2573587,essv2525617,essv2526832,essv2529495,essv2524274,essv2574954,essv2571098,essv2538037,essv2532974,essv2554429,essv2524803 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07357,NA11829,NA11919,NA12003,NA12828,NA12873,NA12878,NA12892,NA18499,NA18502,NA18508,NA18510,NA18522,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18870,NA18916,NA18940,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18964,NA18980,NA19005,NA19093,NA19129,NA19138,NA19238 esv26748 3 116442756 116443454 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14118 S 451 0 1 "" NA19099 nsv821632 3 116448039 116489842 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421355 S 31 1 0 "" nsv877356 3 116473934 117990316 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538061 S 6533 1 0 GAP43,LSAMP,LSAMP-AS3 MS13469 esv272392 3 116500878 116501156 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581969,essv2582844 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv2495022 3 116505667 116507554 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312289 S 1 0 1 "" NA18507 esv2406516 3 116506745 116507476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787070 S 1 0 1 "" NA18507 esv4088 3 116506883 116507319 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26529 S 1 0 1 Single Asian sample YH "" YH esv9412 3 116506934 116507271 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31853 S 1 0 1 "" SJK dgv123n6 3 116562312 116562378 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237991,nsv237411 M 24 "" nsv829684 3 116602738 116763604 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443021 S 95 1 0 "" nsv877357 3 116627375 116711241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559171 S 6533 0 1 "" MS23768 nsv3955 3 116716771 116727502 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5980 S 9 0 1 "" NA19129 esv21752 3 116730916 116732469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10805 S 451 0 2 "" NA19129,NA19225 esv274109 3 116865738 116866100 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580947,essv2579463 M 7 2 0 Samples from several populations that are part of the HapMap project. GAP43 NA19238,NA19240 esv270312 3 116865751 116866087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557972,essv2565822,essv2540707,essv2542275,essv2536479,essv2522734,essv2543845,essv2531686,essv2577545,essv2525386,essv2552095,essv2547322,essv2553533,essv2520150,essv2528542,essv2546674,essv2550157,essv2538276,essv2539859,essv2549160,essv2532854,essv2570121,essv2573145,essv2567097,essv2573837,essv2534417,essv2522499,essv2577134,essv2525579,essv2575080,essv2572663,essv2551198,essv2537783,essv2525042,essv2563243 M 157 35 0 Samples from several populations that are part of the HapMap project. GAP43 NA07000,NA07357,NA10847,NA10851,NA11829,NA11831,NA11919,NA11920,NA11931,NA11992,NA12006,NA12043,NA12156,NA12489,NA12717,NA12763,NA12815,NA12891,NA12892,NA18511,NA18547,NA18563,NA18564,NA18576,NA18593,NA18942,NA18947,NA18951,NA18959,NA18960,NA18970,NA18980,NA19102,NA19143,NA19257 dgv5234n71 3 116879271 117034621 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877359,nsv877358 M 6533 2 0 GAP43,LSAMP SP54833,SP81091 esv1060470 3 116899749 116899749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345699 S 2 1 0 GAP43 HuRef esv274993 3 117104921 117107546 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585335,essv2585419 M 1250 1 1 LSAMP nsv829685 3 117126211 117295603 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443022 S 95 1 0 LSAMP esv2751975 3 117248975 117385591 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984506,essv6984507 M 771 0 1 LSAMP BEC_713 esv2536613 3 117257927 117259086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229224 S 1 0 1 LSAMP NA18507 nsv3956 3 117314503 117317975 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2408 S 9 1 0 LSAMP NA18555 nsv509847 3 117344115 117350115 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623917 S 4 0 1 LSAMP NA18994 esv2751976 3 117350000 117386000 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989441,essv6984579 M 771 0 1 LSAMP BEC_720 nsv877360 3 117398861 117506680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553195 S 6533 0 1 LSAMP MS19808 nsv3957 3 117469640 117515315 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2409 S 9 0 1 LSAMP NA18555 nsv877361 3 117500621 117620729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536621 S 6533 1 0 LSAMP MS12861 nsv437338 3 117558979 117593325 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467219 S 60 0 1 Samples from several populations that are part of the HapMap project. LSAMP NA18506 dgv1487e1 3 117568368 117604638 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16180,esv1181 M 271 0 0 LSAMP NA18506 esv28824 3 117581636 117592667 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21066 S 451 0 1 LSAMP NA18508 essv10707 3 117581731 117587211 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LSAMP NA18508 nsv516570 3 117581731 117590855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691024,nssv669248,nssv691916 M 2026 0 3 LSAMP dgv1488e1 3 117624820 117790232 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv70,essv6324 M 271 0 0 LSAMP NA18609 nsv3958 3 117682660 117707128 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9623 S 9 0 1 "" NA18507 esv2631444 3 117686745 117701827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267428 S 1 0 1 "" NA18507 esv2410871 3 117686968 117701202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4714212 S 1 0 1 "" NA18507 esv2458776 3 117687342 117699780 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210723 S 1 0 1 "" NA18507 esv4878 3 117687478 117687986 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27319 S 1 0 1 Single Asian sample YH "" YH esv7359 3 117687509 117687895 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29800 S 1 0 1 "" SJK nsv441836 3 117689415 117698429 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509848 3 117699526 117705526 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622032 S 4 0 1 "" NA10860 nsv10309 3 117753094 117754965 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12224,nssv12072 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517 esv2456835 3 117757369 117758969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360000 S 1 0 1 "" NA18507 esv2413287 3 117757782 117758494 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788326 S 1 0 1 "" NA18507 esv3717 3 117757915 117758427 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26158 S 1 0 1 Single Asian sample YH "" YH dgv124n6 3 117757962 117758298 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236601,nsv236135 M 24 "" esv1002092 3 117757968 117758291 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574675 S 3 0 1 "" HuRef esv7322 3 117757971 117758284 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29763 S 1 0 1 "" SJK esv1384260 3 117757974 117758298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965137 S 2 0 1 "" HuRef esv268907 3 117784195 117784439 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510225,essv2505138,essv2505565,essv2495333,essv2493575,essv2498624,essv2505886,essv2509365,essv2511142,essv2503484,essv2502438,essv2499682,essv2511557 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11995,NA12154,NA12287,NA18517,NA18858,NA18861,NA18909,NA18944,NA18947,NA18948,NA19225 nsv829686 3 117808312 117977231 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443023 S 95 1 0 LSAMP-AS3 nsv460826 3 117809488 117837515 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537327 S 1557 0 1 "" 1780854279_A esv275070 3 117823605 117831366 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585771,essv2585151 M 1250 1 1 "" dgv295n21 3 117878268 118067971 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524961,nsv521250 M 2026 0 2 LSAMP-AS3 nsv877362 3 117957845 118257964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589006 S 6533 0 1 "" IS38280 nsv237351 3 117992146 117993167 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255929 M 24 "" nsv437339 3 118005909 118019154 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467220 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 esv23768 3 118006088 118008674 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14259 S 451 0 2 "" NA19190,NA19240 esv272494 3 118034280 118034600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584355,essv2583571 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv877363 3 118118878 118364404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525362 S 6533 0 1 "" SP56531 nsv877364 3 118133491 118293883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548647 S 6533 1 0 "" MS17878 nsv511209 3 118151853 118282084 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626654 S 1 0 1 "" 1 esv270969 3 118156622 118156972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500949,essv2497067,essv2502046 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA19190,NA19257 nsv523314 3 118204632 118247977 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699056 S 2026 0 1 "" esv6175 3 118216606 118216697 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28616 S 1 1 0 "" SJK nsv237300 3 118225372 118225372 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255878 M 24 "" esv1432574 3 118252310 118252408 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957334 S 2 0 1 "" HuRef nsv877365 3 118300250 118364404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584498 S 6533 0 1 "" IS37059 esv271329 3 118306813 118306943 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496674,essv2504413,essv2512453,essv2505026,essv2496229,essv2498407,essv2505856,essv2502432,essv2493034,essv2500548,essv2506724,essv2509537 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11993,NA12043,NA12828,NA18511,NA18858,NA18861,NA18948,NA18951,NA18956,NA19108,NA19129 nsv877366 3 118436759 118554784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548648 S 6533 1 0 "" MS17878 dgv821n67 3 118573375 118573944 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822224,nsv822225 M 31 3 0 "" AK16,NA18552,NA18592 esv271156 3 118638467 118639053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504582 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv516153 3 118654854 118655663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691988,nssv666518 M 2026 0 2 "" nsv829687 3 118668289 118843427 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443024 S 95 1 0 "" esv270232 3 118676233 118676574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505157,essv2503450,essv2502542,essv2511811,essv2494557,essv2497838,essv2499239,essv2501537,essv2505238,essv2498546,essv2503175,essv2511123,essv2512301,essv2501296 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12716,NA12750,NA18499,NA18550,NA18555,NA18605,NA18608,NA18853,NA18858,NA18943,NA18944,NA18949,NA19093 nsv877367 3 118732413 118987435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508345 S 6533 1 0 "" SP54657 nsv877368 3 118751921 118821017 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548649 S 6533 1 0 "" MS17878 nsv522086 3 118779280 118988000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694858 S 2026 0 1 "" nsv460827 3 118786061 118931004 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537328 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01361 nsv470849 3 118798496 118931004 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547723 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01361 nsv829688 3 119156464 119325048 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443025 S 95 1 0 "" nsv829689 3 119270697 119417033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443026 S 95 1 0 "" esv274949 3 119285333 119286844 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585719,essv2585819 M 1250 1 1 "" esv2509258 3 119395555 119397131 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253357 S 1 0 1 "" NA18507 esv271552 3 119486047 119486192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504137,essv2509028,essv2495551,essv2502042 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18522,NA18916,NA19257 nsv524029 3 119637216 119639785 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699892 S 2026 1 0 "" esv271449 3 119654736 119655082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515073,essv2518073,essv2513705 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12812,NA12872 nsv460829 3 119678291 119712060 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537329 S 1557 0 1 "" 1780862433_A nsv829690 3 119688051 119860700 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443027 S 95 1 0 "" esv1969233 3 119764114 119764693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938644 S 1 0 1 "" NA18507 esv3651 3 119764264 119764606 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26092 S 1 0 1 Single Asian sample YH "" YH esv1007996 3 119790332 119790381 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580882 S 3 0 1 "" HuRef esv1580655 3 119790345 119790395 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331431 S 2 0 1 "" HuRef esv267820 3 119818025 119818216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496723,essv2493249,essv2493982,essv2507330,essv2497662,essv2497083 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18504,NA18871,NA18912,NA19147,NA19190 nsv829691 3 119876656 120043445 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443028 S 95 1 0 "" esv1633536 3 119919882 119919933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626274 S 2 0 1 "" HuRef esv1003585 3 119949141 119965795 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565450 S 3 0 0 "" HuRef nsv3959 3 119967742 120012571 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7849 S 9 0 1 "" NA12156 nsv3960 3 120085007 120116062 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7024 S 9 1 0 IGSF11 NA12156 nsv822226 3 120104124 120105635 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423292 S 31 0 1 IGSF11 NA18999 dgv5235n71 3 120164461 120307108 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877369,nsv877371 M 6533 15 0 IGSF11 IS30925,IS31369,IS31563,IS33792,IS33857,IS35594,IS35675,IS37860,IS38457,IS40272,IS40292,IS41647,MS17878,MS19930,MS20830 nsv877370 3 120194467 120282372 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600887 S 6533 1 0 IGSF11 IS41939 esv33349 3 120209267 120286290 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97222 S 51 1 0 IGSF11 22075 nsv829692 3 120210462 120384401 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443030,nssv1443031 M 95 0 2 C3orf30,IGSF11,UPK1B nsv470860 3 120211804 120284544 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547734,nssv547745 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IGSF11 HGDP00058,HGDP00675 nsv523926 3 120211804 120284544 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699771 S 2026 1 0 IGSF11 dgv618n27 3 120211804 120292198 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460830,nsv460831,nsv460832,nsv460833 M 1557 4 0 IGSF11 HGDP00058,HGDP00258,HGDP00675,NINDS_99 dgv5236n71 3 120211804 120307108 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877373,nsv877372,nsv877375,nsv877374 M 6533 17 0 IGSF11 IS30206,IS30319,IS30838,IS31778,IS31915,IS32651,IS34745,IS35169,IS35701,IS36196,IS36722,IS37974,IS38329,IS38417,IS38461,IS39331,IS40799 nsv3961 3 120220858 120266025 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7850 S 9 0 1 IGSF11 NA12156 esv271379 3 120226919 120227004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514065 S 157 1 0 Samples from several populations that are part of the HapMap project. IGSF11 NA12043 nsv521267 3 120238009 120283561 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697877 S 2026 1 0 IGSF11 esv25249 3 120338027 120482941 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18354 S 451 0 1 B4GALT4,C3orf30,IGSF11,UPK1B NA12489 nsv507119 3 120379171 120385171 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621717,nssv620223,nssv617613,nssv622867 M 4 4 0 UPK1B CHM,NA10860,NA15510,NA18994 nsv527259 3 120389132 120399317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703665 S 2026 0 1 UPK1B nsv829694 3 120494178 120636269 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443032 S 95 1 0 ARHGAP31,TMEM39A nsv3962 3 120577336 120618011 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7025 S 9 0 1 ARHGAP31 NA12156 esv997290 3 120609831 120618357 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564612 S 3 0 1 ARHGAP31 HuRef nsv822227 3 120615739 120617711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431969 S 31 0 1 ARHGAP31 AK20 nsv829695 3 120661580 120850686 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443034,nssv1443033 M 95 0 2 ADPRH,CD80,PLA1A,POGLUT1,POPDC2,TIMMDC1,TMEM39A esv269361 3 120728949 120729034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517002 S 157 1 0 Samples from several populations that are part of the HapMap project. CD80 NA11931 nsv523837 3 120761538 120771538 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699669 S 2026 1 0 "" nsv3963 3 120783754 120828594 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7851 S 9 0 1 ADPRH,PLA1A NA12156 nsv522542 3 120789620 120791950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705921 S 2026 0 1 ADPRH esv26438 3 120833332 120836810 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10953 S 451 0 2 "" NA12239,NA12414 esv2421854 3 120834088 120836628 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5030212,essv5011301,essv5048754,essv5087053,essv5043962,essv5079992,essv5034727,essv5060958,essv5101680,essv5098543,essv5122173,essv5131859,essv5068234,essv5044636,essv5128055,essv5009786 M 1184 0 16 "" NA07345,NA07346,NA07348,NA07349,NA10847,NA12239,NA12751,NA12865,NA12875,NA19834,NA19836,NA20508,NA20530,NA20543,NA20815,NA20875 nsv441837 3 120834088 120836628 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515714 3 120836534 120836583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670560,nssv690569,nssv691265,nssv664508,nssv677596,nssv673680 M 2026 0 6 "" nsv527724 3 120836534 120844105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704205 S 2026 0 1 POPDC2 nsv520805 3 120841735 120844105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697622 S 2026 0 1 POPDC2 nsv460834 3 120866853 120941541 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537334 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3orf15,COX17 HGDP00552 nsv819329 3 120907745 120908464 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419071 S 2 0 1 C3orf15 AK1 nsv819215 3 120917024 120917705 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419055 S 2 0 1 C3orf15 AK1 nsv237513 3 120979614 120981361 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256091 M 24 "" nsv237066 3 120981213 120981361 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255644 M 24 "" nsv507120 3 121022127 121028127 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620224,nssv622868 M 4 2 0 GSK3B NA15510,NA18994 nsv829696 3 121050349 121194095 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443036,nssv1443035 M 95 2 0 GSK3B esv2516850 3 121083875 121085285 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344826 S 1 0 1 GSK3B NA18507 esv22981 3 121138197 121139594 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17197 S 451 0 1 GSK3B NA19240 esv2631534 3 121166538 121168118 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283213 S 1 0 1 GSK3B NA18507 nsv3964 3 121269313 121314388 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7853 S 9 0 1 GSK3B NA12156 nsv829697 3 121285546 121401125 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443037 S 95 0 1 GPR156,GSK3B nsv877376 3 121306727 121602136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548651 S 6533 1 0 FSTL1,GPR156,LRRC58,MIR198 MS17878 esv275006 3 121322452 121323403 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585953,essv2585339 M 1250 1 1 "" esv268945 3 121323300 121323574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499451,essv2495386,essv2493688,essv2505956,essv2505634,essv2506693,essv2509573,essv2499570 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA12044,NA12287,NA18517,NA18861,NA19005,NA19108,NA19129 nsv3967 3 121340398 121385805 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7026 S 9 0 1 GPR156 NA12156 esv2596469 3 121375701 121377540 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312238 S 1 0 1 GPR156 NA18507 nsv513068 3 121375703 121378419 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626553 S 1 0 1 GPR156 1 nsv518052 3 121375947 121379347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695463 S 2026 0 1 GPR156 esv2257745 3 121376480 121377305 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846760 S 1 0 1 GPR156 NA18507 esv4361 3 121376624 121377233 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26802 S 1 0 1 Single Asian sample YH GPR156 YH esv7231 3 121376656 121377129 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29672 S 1 0 1 GPR156 SJK dgv125n6 3 121376674 121377135 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237995,nsv236593 M 24 GPR156 esv998169 3 121376675 121377134 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570251 S 3 0 1 GPR156 HuRef esv1045898 3 121376675 121377135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971645 S 2 0 1 GPR156 HuRef esv1006353 3 121376675 121377762 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564090 S 3 0 1 GPR156 HuRef esv1543050 3 121413521 121413521 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294397 S 2 1 0 GPR156 HuRef esv259525 3 121424388 121424726 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394113,essv2393901,essv2393824,essv2393691,essv2393971,essv2394360 M 6 0 0 Samples from several populations that are part of the HapMap project. GPR156 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259822 3 121424412 121424784 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400195,essv2394748,essv2399058,essv2400317,essv2401140,essv2400903,essv2395761,essv2396251,essv2400555,essv2397594,essv2398103,essv2399972,essv2399383,essv2398676,essv2400770,essv2395400,essv2398275,essv2399198,essv2397282,essv2401055,essv2396901,essv2395263,essv2395560,essv2397651,essv2397780,essv2399246,essv2394970,essv2398548,essv2396526,essv2399337,essv2396097,essv2396641,essv2400693,essv2394955,essv2400938,essv2395117,essv2396327,essv2395514,essv2400855,essv2397420,essv2399591,essv2399852,essv2397862,essv2398838,essv2400443,essv2398942,essv2399007,essv2400143,essv2399153,essv2396837,essv2399414,essv2400067,essv2394610,essv2398426,essv2397950,essv2398200,essv2395310,essv2394451,essv2396213,essv2395870,essv2397508,essv2398144,essv2397107,essv2400814,essv2397737,essv2394598,essv2397013,essv2398304,essv2400985,essv2395206,essv2394867,essv2399771,essv2399524,essv2396374,essv2398009,essv2399700,essv2397239,essv2395913,essv2397080,essv2400544,essv2394498 M 144 0 0 Samples from several populations that are part of the HapMap project. GPR156 NA07037,NA07357,NA10851,NA11881,NA11931,NA11993,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12287,NA12489,NA12717,NA12749,NA12763,NA12776,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18505,NA18508,NA18511,NA18516,NA18517,NA18522,NA18523,NA18526,NA18542,NA18545,NA18547,NA18550,NA18558,NA18563,NA18564,NA18566,NA18570,NA18573,NA18577,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18965,NA18973,NA19093,NA19099,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv6870 3 121424457 121424518 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29311 S 1 1 0 GPR156 SJK esv1439832 3 121424625 121424625 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659615 S 2 1 0 GPR156 HuRef nsv829698 3 121443559 121611816 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443038 S 95 1 0 FSTL1,GPR156,LRRC58,MIR198 nsv236293 3 121548940 121552551 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254871 M 24 LRRC58 nsv3968 3 121549144 121594153 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7854 S 9 0 1 LRRC58 NA12156 nsv3969 3 121642432 121676065 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3106 S 9 1 0 FSTL1 NA18555 nsv436396 3 121643307 121649129 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466027 S 2 0 1 Samples from several populations that are part of the HapMap project. FSTL1 NA18505 esv25295 3 121644365 121647870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12194 S 451 0 7 FSTL1 NA18505,NA18523,NA18858,NA18907,NA19108,NA19190,NA19240 nsv3970 3 121717937 121762984 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7855 S 9 0 1 "" NA12156 nsv508238 3 121731264 121812114 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618717 S 4 0 1 NDUFB4 NA10860 nsv877377 3 121770373 121909440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592601 S 6533 1 0 HGD,NDUFB4,RABL3 IS39243 esv27333 3 121780988 121782207 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14905 S 451 0 1 "" NA18909 nsv829699 3 121791022 121967385 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443041,nssv1443039 M 95 0 2 GTF2E1,HGD,NDUFB4,RABL3 esv271240 3 121792025 121792240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510288,essv2510977,essv2511386,essv2513168,essv2495890,essv2505036,essv2496547,essv2506281,essv2509246,essv2504876,essv2510431 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831,NA11920,NA12249,NA12489,NA12828,NA18510,NA18523,NA18909,NA19099,NA19172 esv272279 3 121801610 121801710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581008 S 7 1 0 Samples from several populations that are part of the HapMap project. NDUFB4 NA19238 esv272005 3 121801640 121801970 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576054,essv2546180,essv2522743,essv2570956,essv2577560,essv2525430,essv2558538,essv2564600,essv2537473,essv2528441,essv2552435,essv2544571,essv2552746,essv2538275,essv2540486,essv2565041,essv2539923,essv2549419,essv2519900,essv2521940,essv2566238,essv2531078,essv2532661,essv2567897,essv2528672,essv2567489,essv2541663,essv2570022,essv2553383,essv2572607,essv2542090,essv2562245,essv2578402,essv2573017,essv2555294,essv2533728,essv2530184,essv2557592,essv2531499,essv2573538,essv2571943,essv2529660,essv2526709,essv2574611,essv2536039,essv2525199 M 157 46 0 Samples from several populations that are part of the HapMap project. NDUFB4 NA06986,NA07357,NA11830,NA11881,NA11931,NA11993,NA12043,NA12156,NA12750,NA12751,NA12878,NA12891,NA18502,NA18526,NA18542,NA18547,NA18552,NA18558,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18856,NA18909,NA18940,NA18942,NA18943,NA18944,NA18949,NA18953,NA18961,NA18964,NA18973,NA19093,NA19114,NA19138 nsv237498 3 121826250 121826250 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256076 M 24 "" nsv877378 3 121864220 122089128 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586519 S 6533 1 0 GTF2E1,HGD,RABL3 IS37848 esv272448 3 121908122 121908430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580294,essv2579917 M 7 2 0 Samples from several populations that are part of the HapMap project. RABL3 NA12891,NA12892 esv271232 3 121908133 121908409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565608,essv2575848,essv2546281,essv2521407,essv2525844,essv2556707,essv2523125,essv2577555,essv2548380,essv2521487,essv2525456,essv2535034,essv2520591,essv2558407,essv2553704,essv2565468,essv2554904,essv2528349,essv2546830,essv2532775,essv2555252,essv2571519,essv2574267,essv2548875,essv2554598,essv2547747,essv2563492 M 157 27 0 Samples from several populations that are part of the HapMap project. RABL3 NA07037,NA07346,NA07347,NA10847,NA11829,NA11830,NA11881,NA11894,NA11918,NA11994,NA12004,NA12043,NA12045,NA12144,NA12156,NA12249,NA12716,NA12750,NA12763,NA12812,NA12872,NA12891,NA12892,NA18576,NA18943,NA19238,NA19240 esv1608308 3 121908165 121908165 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603052 S 2 1 0 RABL3 HuRef nsv829700 3 121951881 122158453 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443043,nssv1443042 M 95 1 1 GTF2E1,STXBP5L nsv507121 3 121966738 121972738 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621718 S 4 1 0 GTF2E1 NA10860 nsv877379 3 122005406 122035033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551447 S 6533 0 1 "" MS18886 nsv877380 3 122005406 122089128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552704 S 6533 0 1 "" MS19587 nsv3971 3 122036489 122071869 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3192 S 9 1 0 "" NA12878 nsv524529 3 122055985 122061407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700479 S 2026 0 1 "" esv2557637 3 122217790 122219185 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322780 S 1 0 1 STXBP5L NA18507 nsv829701 3 122418092 122598622 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443044 S 95 1 0 STXBP5L dgv296n21 3 122424268 122460073 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518828,nsv517501 M 2026 0 5 STXBP5L nsv521397 3 122453590 122675040 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698008 S 2026 1 0 POLQ,STXBP5L nsv829702 3 122528483 122710665 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443045 S 95 1 0 POLQ,STXBP5L nsv877381 3 122675040 122826190 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586520 S 6533 1 0 ARGFX,FBXO40,POLQ IS37848 dgv1489e1 3 122747576 122806155 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1398,essv13328 M 271 0 0 ARGFX,FBXO40 NA18500 esv33473 3 122779227 122784104 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100048 S 51 0 1 ARGFX 22086 nsv877382 3 122783418 122807333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548652 S 6533 1 0 ARGFX,FBXO40 MS17878 nsv10310 3 122794406 122796654 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12863 S 31 1 0 Samples from several populations that are part of the HapMap project. FBXO40 NA18972 nsv829703 3 122865980 123017183 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443046 S 95 0 1 GOLGB1,IQCB1 nsv516233 3 122901991 123153095 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662453,nssv705127,nssv683419,nssv657458,nssv659303,nssv666972,nssv702341,nssv657113 M 2026 1 7 EAF2,GOLGB1,IQCB1,SLC15A2 nsv877383 3 122947910 123133426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572199 S 6533 0 1 EAF2,GOLGB1,IQCB1,SLC15A2 IS32891 esv33139 3 122983090 123574521 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94257 S 51 0 1 CASR,CCDC58,CD86,CSTA,EAF2,ILDR1,IQCB1,SLC15A2 22394 esv2447293 3 123004930 123006726 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269260 S 1 0 1 IQCB1 NA18507 esv270181 3 123051475 123051816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518592,essv2515666,essv2518033 M 157 3 0 Samples from several populations that are part of the HapMap project. EAF2 NA12287,NA12815,NA12872 nsv877384 3 123084267 123142464 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548653 S 6533 1 0 EAF2,SLC15A2 MS17878 nsv237246 3 123210903 123213214 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255824 M 24 ILDR1 nsv3972 3 123232182 123264346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7027 S 9 1 0 CD86 NA12156 nsv528646 3 123249744 123264076 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705278 S 2026 0 1 CD86 esv1959984 3 123304215 123304645 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4523003 S 1 0 1 CD86 NA18507 esv2500835 3 123304406 123304469 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378863 S 1 0 1 CD86 NA18507 dgv5237n71 3 123356123 123386526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877385,nsv877386,nsv877388 M 6533 0 3 CASR SP54043,SP55021,SP57469 nsv877387 3 123356123 123416851 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585817 S 6533 0 1 CASR IS37646 nsv877389 3 123383339 123386744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507565 S 6533 0 1 CASR SP54684 nsv877390 3 123471045 123513291 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548654 S 6533 1 0 CASR MS17878 nsv517368 3 123486447 123489217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693639,nssv667294,nssv670656,nssv669560,nssv669249,nssv666261,nssv672184,nssv681600,nssv673408,nssv673655,nssv652347,nssv653339,nssv691230,nssv678149,nssv683653,nssv674097,nssv682708,nssv680717,nssv656898,nssv688342,nssv651827,nssv674540 M 2026 0 22 CASR esv2574672 3 123562267 123563678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332639 S 1 0 1 CCDC58 NA18507 nsv3973 3 123573746 123618427 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7856 S 9 0 1 CCDC58,FAM162A,WDR5B NA12156 esv5241 3 123621064 123621531 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27682 S 1 0 1 Single Asian sample YH "" YH nsv3974 3 123626646 123659993 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv319 S 9 1 0 KPNA1 NA19240 nsv877391 3 123628160 124028103 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548655 S 6533 1 0 DIRC2,DTX3L,HSPBAP1,KPNA1,PARP14,PARP15,PARP9 MS17878 nsv829705 3 123796734 123942668 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443047 S 95 0 1 HSPBAP1,PARP14,PARP15 esv2512026 3 123804834 123806171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330742 S 1 0 1 PARP15 NA18507 esv273865 3 123928402 123928601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580106,essv2580351 M 7 2 0 Samples from several populations that are part of the HapMap project. PARP14 NA12878,NA12891 esv268642 3 123928406 123928571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545646,essv2531859,essv2550804,essv2552016,essv2553802,essv2563959,essv2562050,essv2540080,essv2552626,essv2532038,essv2578662,essv2536912,essv2561478,essv2544867,essv2562859,essv2523693,essv2542850,essv2534602,essv2561251,essv2519671,essv2522163,essv2565941,essv2531166,essv2567439,essv2541641,essv2569949,essv2553273,essv2535591,essv2572508,essv2559016,essv2578113,essv2573248,essv2533736,essv2530112,essv2574032,essv2534261,essv2522631,essv2531292,essv2573416,essv2543250,essv2525807,essv2575573,essv2526373,essv2524096,essv2549798,essv2571152,essv2563270 M 157 47 0 Samples from several populations that are part of the HapMap project. PARP14 NA10847,NA12003,NA12006,NA12155,NA12489,NA12763,NA12828,NA12874,NA18489,NA18502,NA18505,NA18510,NA18517,NA18523,NA18526,NA18532,NA18537,NA18550,NA18561,NA18562,NA18566,NA18571,NA18572,NA18573,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18940,NA18942,NA18944,NA18949,NA18951,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19099,NA19114,NA19129,NA19225,NA19238 nsv822228 3 123954626 123956162 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423293 S 31 0 1 HSPBAP1 NA18999 nsv3975 3 123959669 123992052 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7857 S 9 0 1 HSPBAP1 NA12156 esv1422853 3 123981712 123981761 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013934 S 2 0 1 HSPBAP1 HuRef nsv829706 3 123998609 124153277 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443049,nssv1443048 M 95 2 0 DIRC2,LOC100129550,SEMA5B nsv877392 3 124001489 124049863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499076 S 6533 0 1 DIRC2 SP50144 esv2590652 3 124042424 124044054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237817 S 1 0 1 DIRC2 NA18507 nsv517377 3 124078467 124100135 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701957,nssv669776,nssv651847,nssv655038,nssv691424 M 2026 3 2 DIRC2,LOC100129550 nsv877393 3 124135223 124192543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548656 S 6533 1 0 SEMA5B MS17878 esv998863 3 124138902 124141624 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564952 S 3 1 0 SEMA5B HuRef nsv517695 3 124144327 124145445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652871,nssv669561,nssv674541,nssv665564,nssv677739,nssv655066 M 2026 0 6 SEMA5B nsv460835 3 124151847 124172088 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537335 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SEMA5B HGDP01079 nsv460836 3 124169289 124205881 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537336 S 1557 0 1 SEMA5B NINDS_51 esv268964 3 124282362 124282599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495251,essv2502306,essv2495317,essv2505258 M 157 4 0 Samples from several populations that are part of the HapMap project. PDIA5 NA11992,NA12004,NA12287,NA18853 nsv877394 3 124336747 124478321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548657 S 6533 1 0 PDIA5,SEC22A MS17878 esv1278477 3 124353659 124353659 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230401 S 2 1 0 PDIA5 HuRef nsv521590 3 124362881 124371327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694463 S 2026 0 1 PDIA5 nsv524614 3 124376942 124425472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700575 S 2026 0 1 SEC22A dgv297n21 3 124376943 124456196 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525627,nsv526077 M 2026 0 2 SEC22A esv275521 3 124421835 124427037 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585785,essv2586027 M 1250 1 1 SEC22A nsv3976 3 124453232 124487816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv320 S 9 1 0 ADCY5,SEC22A NA19240 nsv877395 3 124458723 124775794 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516355 S 6533 1 0 ADCY5,PTPLB,SEC22A SP56795 esv272701 3 124516361 124517586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580457,essv2579906,essv2580802,essv2579565 M 7 4 0 Samples from several populations that are part of the HapMap project. ADCY5 NA12891,NA12892,NA19238,NA19240 nsv829707 3 124559083 124741900 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443050 S 95 0 1 ADCY5,PTPLB nsv822229 3 124600953 124601391 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436497 S 31 1 0 ADCY5 NA18542 esv2627675 3 124608605 124609481 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301488 S 1 1 0 ADCY5 NA18507 nsv877396 3 124612586 124753782 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548658 S 6533 1 0 ADCY5,PTPLB MS17878 esv21931 3 124649426 124651751 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18492 S 451 0 2 ADCY5 NA07045,NA12878 nsv3978 3 124657936 124702990 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7858 S 9 0 1 PTPLB NA12156 esv2623239 3 124679797 124681138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345381 S 1 0 1 "" NA18507 esv25675 3 124680141 124680671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12633 S 451 0 1 "" NA11995 esv1318028 3 124680372 124680660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023208 S 2 0 1 "" HuRef esv269434 3 124691927 124692265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519260,essv2518546,essv2515056,essv2517716,essv2516190,essv2517360 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12287,NA12812,NA12878,NA12891,NA18970 esv274475 3 124691934 124692262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581871,essv2582488 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2584472 3 124718913 124720441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222774 S 1 0 1 PTPLB NA18507 esv2305385 3 124719261 124719940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547182 S 1 0 1 PTPLB NA18507 esv5391 3 124719394 124719857 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27832 S 1 0 1 Single Asian sample YH PTPLB YH esv992794 3 124719440 124719754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567415 S 3 0 1 PTPLB HuRef esv9393 3 124719440 124719766 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31834 S 1 0 1 PTPLB SJK esv1612025 3 124719447 124719762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154051 S 2 0 1 PTPLB HuRef nsv829708 3 124721126 124892494 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443052 S 95 1 0 MYLK,MYLK-AS1,PTPLB nsv507122 3 124752980 124758980 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620225,nssv621719,nssv617614,nssv622869 M 4 4 0 PTPLB CHM,NA10860,NA15510,NA18994 esv1714874 3 124755685 124755685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742407 S 2 1 0 PTPLB HuRef nsv829709 3 124755818 124949657 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443053 S 95 0 1 MYLK,MYLK-AS1,PTPLB esv23420 3 124798107 124799486 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14869 S 451 0 1 MYLK-AS1 NA19190 nsv460837 3 124810365 125341439 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537337 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCDC14,KALRN,MYLK,MYLK-AS1,ROPN1 HGDP00372 esv998431 3 124836246 124841960 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564880 S 3 0 1 MYLK HuRef nsv829710 3 124842950 125027259 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443054 S 95 1 0 MYLK esv2281404 3 124908099 124908513 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923675 S 1 0 1 MYLK NA18507 nsv518633 3 124924378 124935528 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696082 S 2026 1 0 MYLK nsv460838 3 124935528 124946398 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537338 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYLK HGDP00088 nsv3979 3 125056104 125100222 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3193,nssv2410,nssv7859,nssv5981 M 9 4 0 MYLK NA12156,NA12878,NA18555,NA19129 nsv508946 3 125063361 125075342 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619337 S 4 1 0 MYLK NA10860 nsv520308 3 125108324 125141130 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672666,nssv688798,nssv680069,nssv662750 M 2026 4 0 CCDC14 nsv877397 3 125155903 125423382 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548659 S 6533 1 0 CCDC14,KALRN,ROPN1 MS17878 esv5313 3 125161155 125161464 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27754 S 1 0 1 Single Asian sample YH CCDC14 YH esv22358 3 125201579 125204942 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19579 S 451 0 6 "" NA18508,NA18858,NA18909,NA18916,NA19225,NA19257 nsv829711 3 125324421 125496225 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443055 S 95 1 0 KALRN nsv877398 3 125409482 125451207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560527 S 6533 0 1 KALRN MS24528 esv5483 3 125448187 125448291 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27924 S 1 1 0 KALRN SJK esv2533647 3 125479566 125480000 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249762 S 1 0 1 KALRN NA18507 nsv3980 3 125541067 125585310 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2411 S 9 0 1 KALRN NA18555 nsv513069 3 125567324 125570729 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626555 S 1 0 1 KALRN 1 esv267747 3 125640075 125640351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494671,essv2507286 M 157 2 0 Samples from several populations that are part of the HapMap project. KALRN NA18519,NA18870 nsv877399 3 125712192 125764003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600405 S 6533 0 1 KALRN IS41881 nsv877400 3 125764670 125792028 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548660 S 6533 1 0 KALRN MS17878 nsv522662 3 125792028 125797250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706064 S 2026 0 1 KALRN nsv522068 3 125822839 125828673 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694839 S 2026 1 0 KALRN esv2571462 3 125829331 125830852 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224675 S 1 0 1 KALRN NA18507 nsv877401 3 125849352 125888865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548661 S 6533 1 0 KALRN MS17878 esv1481321 3 125874976 125874976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039375 S 2 1 0 KALRN HuRef esv268012 3 125889146 125889534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500282 S 157 1 0 Samples from several populations that are part of the HapMap project. KALRN NA12891 esv273121 3 125889158 125889301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580978 S 7 1 0 Samples from several populations that are part of the HapMap project. KALRN NA19238 nsv877402 3 125904695 125976720 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548662 S 6533 1 0 ITGB5,KALRN,UMPS MS17878 nsv877403 3 125916749 126141502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508334 S 6533 0 1 ITGB5,KALRN,MUC13,UMPS SP54682 nsv3981 3 125959186 125990026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5982 S 9 1 0 ITGB5 NA19129 esv22852 3 125990195 125992366 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16147 S 451 2 1 ITGB5 NA12828,NA18858,NA19147 nsv820971 3 125990195 125992366 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420334 S 1 0 1 ITGB5 NA10851 esv2454361 3 125990743 125992303 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301042 S 1 0 1 ITGB5 NA18507 esv9373 3 125990900 125992102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31814 S 1 0 1 ITGB5 SJK esv2607536 3 126007417 126007560 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249390 S 1 1 0 ITGB5 NA18507 esv271937 3 126051345 126051678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557996,essv2521054,essv2522733,essv2548168,essv2553928,essv2544372,essv2561744,essv2544672,essv2541110,essv2538444,essv2542861,essv2522182,essv2563900,essv2553336,essv2555392,essv2555774,essv2529631,essv2533184,essv2524777 M 157 19 0 Samples from several populations that are part of the HapMap project. ITGB5 NA07051,NA07357,NA10851,NA11894,NA11931,NA12045,NA12287,NA12414,NA12874,NA18526,NA18545,NA18547,NA18550,NA18571,NA18603,NA18605,NA18943,NA18945,NA19093 nsv877404 3 126075390 126141502 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533635 S 6533 0 1 ITGB5,MUC13 MS11249 esv23075 3 126088117 126089144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19016 S 451 0 1 ITGB5 NA07045 esv1366339 3 126124243 126124243 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325844 S 2 1 0 MUC13 HuRef nsv818166 3 126128924 126129527 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418542 S 112 0 1 MUC13 NA12154 nsv877405 3 126176993 126239279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548663 S 6533 1 0 HEG1 MS17878 nsv460841 3 126208349 126267967 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537341 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HEG1 HGDP01295 nsv829712 3 126240372 126385482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443057,nssv1443056 M 95 0 2 HEG1,SLC12A8 esv34126 3 126247104 126351499 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 HEG1,SLC12A8 esv22297 3 126257023 126257653 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16261 S 451 0 1 HEG1 NA07045 nsv10311 3 126274942 126905296 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11523 S 31 1 0 Samples from several populations that are part of the HapMap project. OSBPL11,SLC12A8,SNX4,ZNF148 NA07048 nsv3982 3 126279683 126308102 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5983 S 9 1 0 SLC12A8 NA19129 nsv523278 3 126285578 126286481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699012 S 2026 0 1 SLC12A8 esv990342 3 126285735 126286319 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586383 S 3 1 0 SLC12A8 HuRef nsv819353 3 126286621 126293721 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419805 S 2 0 1 SLC12A8 AK1 esv989274 3 126291039 126292738 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564869 S 3 1 0 SLC12A8 HuRef esv1521223 3 126291319 126291319 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819726 S 2 1 0 SLC12A8 HuRef esv2551779 3 126372007 126374108 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361496 S 1 0 1 SLC12A8 NA18507 nsv513070 3 126372459 126373624 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626556 S 1 0 1 SLC12A8 1 esv2119517 3 126372582 126373690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794965 S 1 0 1 SLC12A8 NA18507 nsv877406 3 126412438 126553435 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516356 S 6533 1 0 SLC12A8,ZNF148 SP56795 nsv511221 3 126414182 126420793 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626787 S 1 0 1 SLC12A8 1 esv2586583 3 126418337 126420513 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211249 S 1 0 1 "" NA18507 esv2112743 3 126418806 126420047 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594502 S 1 0 1 "" NA18507 nsv513071 3 126418840 126419858 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626557 S 1 0 1 "" 1 esv5040 3 126418887 126420141 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27481 S 1 0 1 Single Asian sample YH "" YH esv7551 3 126418938 126419887 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29992 S 1 0 1 "" SJK esv1005836 3 126418985 126419852 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567735 S 3 0 1 "" HuRef nsv236873 3 126418986 126419853 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255451 M 24 "" esv23164 3 126419034 126419675 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17552 S 451 31 0 "" NA07037,NA07045,NA11894,NA11931,NA12006,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821122 3 126419034 126419675 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420335 S 1 0 1 "" NA10851 esv2651756 3 126522205 126523778 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165211 S 1 0 1 ZNF148 NA18507 nsv508239 3 126538056 126542191 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618718 S 4 0 1 ZNF148 NA10860 nsv509849 3 126543497 126549497 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623918 S 4 0 1 ZNF148 NA18994 esv994465 3 126544977 126545043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569665 S 3 0 1 ZNF148 HuRef esv1126785 3 126545011 126545078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598554 S 2 0 1 ZNF148 HuRef nsv829713 3 126559869 126736463 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443058 S 95 1 0 OSBPL11,SNX4,ZNF148 nsv829714 3 126649931 126819171 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443059 S 95 1 0 OSBPL11,SNX4 esv270723 3 126697052 126697362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496848,essv2494153,essv2504317,essv2507057,essv2501435 M 157 5 0 Samples from several populations that are part of the HapMap project. SNX4 NA18498,NA18502,NA18505,NA18870,NA19093 nsv507123 3 126759240 126765240 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621720,nssv620226 M 4 2 0 OSBPL11 NA10860,NA15510 dgv822n67 3 126881351 126882652 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822233,nsv822230,nsv822232,nsv822234 M 31 10 0 "" AK10,AK12,AK14,AK18,AK2,AK4,AK6,AK8,NA18592,NA18999 nsv821476 3 126881351 126882652 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420337 S 1 0 1 "" NA10851 esv2054008 3 126881492 126882790 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616688 S 1 0 1 "" NA18507 esv2636715 3 126881637 126883040 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306642 S 1 0 1 "" NA18507 esv5124 3 126881663 126882713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27565 S 1 0 1 Single Asian sample YH "" YH esv23582 3 126881699 126948196 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19398,esv20658 M 451 13 0 "" NA07037,NA07045,NA11995,NA12004,NA12414,NA12776,NA18508,NA18909,NA19114,NA19147,NA19190,NA19225,NA19240 esv1011088 3 126881829 126882574 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586569 S 3 1 0 "" HuRef esv990362 3 126881910 126882372 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586881 S 3 1 0 "" HuRef nsv822235 3 126881910 126882372 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439007,nssv1435786,nssv1433560,nssv1434331 M 31 3 1 "" NA18526,NA18547,NA18566,NA18570 dgv823n67 3 126881910 126882652 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822237,nsv822236,nsv822238 M 31 4 0 "" NA18537,NA18552,NA18942,NA18947 nsv441838 3 126926298 126941452 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv436399 3 126927253 126945969 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466030 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv1490e1 3 126932304 126935636 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1285,essv25080 M 271 0 0 "" NA12892 nsv3983 3 126951352 126989374 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7028,nssv3107,nssv10358,nssv3194 M 9 4 0 "" NA12156,NA12878,NA18555,NA18956 nsv10312 3 126964440 126979441 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12893 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv508948 3 126965723 127017942 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620772,nssv623381 M 4 2 0 MIR548I1 NA15510,NA18994 nsv511098 3 126965723 127061046 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622360 S 4 0 0 MIR548I1 NA10860 esv994766 3 126967621 126967900 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564489 S 3 1 0 "" HuRef nsv499761 3 126967715 126967764 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586407 S 9 1 0 "" esv1423596 3 126972107 126972416 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189276 S 2 0 1 "" HuRef dgv5238n71 3 127024022 127136820 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877407,nsv877409,nsv877408 M 6533 3 0 ALG1L,LOC100125556 SP55834,SP56518,SP56766 dgv1491e1 3 127024023 127185446 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv258,essv19525 M 271 0 0 ALG1L,LOC100125556,ROPN1B NA12864 nsv877410 3 127035432 127203704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564121 S 6533 0 1 ALG1L,LOC100125556,ROPN1B IS30171 nsv10313 3 127120701 127127411 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28993 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC100125556 NA18552 nsv829716 3 127129692 127318509 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443061,nssv1443060,nssv1443063 M 95 2 1 ALDH1L1,ALG1L,LOC100125556,ROPN1B,SLC41A3 nsv3984 3 127148048 127194688 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv321 S 9 0 1 ROPN1B NA19240 nsv10314 3 127153579 127161309 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11514,nssv12923,nssv11879,nssv11611,nssv12081,nssv12254,nssv28847,nssv12278,nssv12132,nssv12810,nssv28620 M 31 0 11 Samples from several populations that are part of the HapMap project. "" NA12155,NA12872,NA18502,NA18517,NA18853,NA18860,NA18972,NA18975,NA19173,NA19221,NA19240 nsv436395 3 127154461 127161999 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466031 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25189 3 127155055 127161736 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18947,esv13986,esv19491 M 451 0 24 "" NA07037,NA07045,NA11993,NA12004,NA12006,NA12239,NA12776,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1005795 3 127155151 127159585 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586723 S 3 0 1 "" HuRef esv996682 3 127155651 127158547 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587053 S 3 0 1 "" HuRef nsv822239 3 127155651 127158547 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440975 S 31 0 1 "" NA18969 nsv514993 3 127155736 127158400 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628487 S 1414 0 0 "" esv32658 3 127155916 127158375 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98851,essv96892,essv97812,essv97315,essv100106,essv93518,essv94905,essv96466,essv99145,essv97711 M 51 0 10 "" 21606,21817,21837,21879,22086,22128,22231,22261,22275,22278 nsv442872 3 127156073 127158653 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv10315 3 127193377 127207525 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12147 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2421547 3 127194960 127204552 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051227,essv5024172,essv5007340,essv5005265,essv5104131,essv5013939,essv5108156,essv5149989,essv5106006,essv5027205,essv5095418,essv5040188,essv5161067,essv5065469,essv5130944,essv5014436,essv5066205,essv5024252,essv5067727,essv5147216,essv5056354,essv5154885,essv5037790,essv5158299,essv5100251,essv5148161,essv5042645,essv5094363,essv5069064,essv5099496,essv5009965,essv5049881,essv5078578,essv5008472,essv5065860,essv5099609,essv5124007,essv5133062,essv5023481,essv5056741,essv5058755,essv5101064,essv5076242,essv5129657,essv5067526,essv5075184,essv5106413,essv5060404,essv5093771,essv5084600,essv5085002,essv5028359,essv5015962,essv5115294,essv5050935,essv5125906,essv5088330,essv5115112,essv5117546,essv5155293,essv5131046,essv5044121,essv5100437,essv5002666,essv5153336,essv5097210,essv5136417,essv5135476,essv5081751,essv5153296,essv5104690,essv5095843,essv5094774,essv5013533,essv5054054,essv5011368,essv5100301,essv5081366,essv5145115,essv5042069,essv5064169,essv5138461 M 1184 0 82 "" NA18488,NA18870,NA18871,NA18872,NA18917,NA19036,NA19041,NA19095,NA19096,NA19102,NA19108,NA19109,NA19114,NA19116,NA19120,NA19130,NA19131,NA19132,NA19141,NA19142,NA19143,NA19172,NA19176,NA19178,NA19179,NA19180,NA19184,NA19192,NA19194,NA19198,NA19199,NA19200,NA19202,NA19204,NA19209,NA19211,NA19236,NA19239,NA19247,NA19332,NA19347,NA19352,NA19359,NA19360,NA19373,NA19374,NA19445,NA19448,NA19469,NA19473,NA19651,NA19652,NA19653,NA19708,NA19712,NA19819,NA19828,NA19908,NA19917,NA19918,NA19919,NA19982,NA19983,NA20332,NA20333,NA20340,NA20348,NA20349,NA20357,NA20358,NA21336,NA21364,NA21399,NA21401,NA21405,NA21619,NA21631,NA21632,NA21635,NA21636,NA21685,NA21722 nsv442873 3 127194960 127204552 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv26663 3 127194978 127204768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17215 S 451 0 2 "" NA19108,NA19114 nsv514165 3 127195896 127204520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627600 S 1414 0 1 "" nsv437879 3 127197322 127204194 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471373,nssv471372,nssv471371 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA19130,NA19131,NA19132 nsv516949 3 127203704 127203905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662023,nssv686719,nssv665453,nssv676992,nssv686582,nssv682351,nssv661280,nssv662820,nssv653487,nssv690047 M 2026 0 10 "" esv267856 3 127218117 127218866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516421 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC41A3 NA12814 nsv524971 3 127226361 127357078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700996 S 2026 0 1 ALDH1L1,SLC41A3 nsv877411 3 127234983 127312195 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546529 S 6533 0 1 ALDH1L1,SLC41A3 MS17208 nsv236467 3 127260831 127260831 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255045 M 24 SLC41A3 nsv237531 3 127260844 127260844 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256109 M 24 SLC41A3 nsv877412 3 127278241 127308351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591441 S 6533 0 1 ALDH1L1,SLC41A3 IS38840 esv7912 3 127284146 127330131 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30353 S 1 0 0 ALDH1L1,SLC41A3 SJK dgv5239n71 3 127303397 127339385 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877414,nsv877413 M 6533 0 2 ALDH1L1 MS10311,MS16153 nsv520037 3 127304962 127337099 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689095,nssv660184,nssv696661 M 2026 1 2 ALDH1L1 dgv5240n71 3 127312345 127358521 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877415,nsv877417 M 6533 0 4 ALDH1L1 IS30197,IS33162,IS35007,IS40799 nsv470871 3 127313707 127357078 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547756 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH1L1 HGDP00288 dgv5241n71 3 127315950 127337658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877418,nsv877416,nsv877419 M 6533 0 3 ALDH1L1 IS37646,IS38388,MS17208 dgv5242n71 3 127327671 127333288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877422,nsv877421,nsv877420 M 6533 0 3 ALDH1L1 MS10769,MS18276,SP54782 dgv5243n71 3 127327671 127337658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877424,nsv877423 M 6533 0 2 ALDH1L1 IS33601,IS38262 esv23981 3 127328812 127333587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12075 S 451 0 1 ALDH1L1 NA12489 dgv5244n71 3 127330158 127337658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877427,nsv877425 M 6533 0 3 ALDH1L1 IS37577,IS38688,IS39272 nsv877426 3 127330757 127337658 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532828 S 6533 1 0 ALDH1L1 MS10871 nsv877428 3 127332792 127363812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600265 S 6533 0 1 ALDH1L1 IS41866 nsv877429 3 127335161 127358521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548664 S 6533 1 0 ALDH1L1 MS17878 esv23630 3 127337699 127338170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15367 S 451 0 1 ALDH1L1 NA18505 nsv877430 3 127369131 127479888 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548665 S 6533 1 0 ALDH1L1 MS17878 nsv3985 3 127375413 127420079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7861 S 9 0 1 ALDH1L1 NA12156 esv269445 3 127387051 127387404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506199,essv2494052,essv2499066,essv2493506,essv2501947 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18871,NA19114,NA19137,NA19239 esv273098 3 127387072 127387423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578951,essv2579493 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv877431 3 127400417 127437475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557247 S 6533 0 1 "" MS22524 esv26353 3 127427211 127435584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13432 S 451 0 2 "" NA18517,NA19257 nsv507124 3 127431436 127437436 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621721,nssv622870,nssv617615,nssv620227 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1218626 3 127461954 127461954 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358749 S 2 1 0 "" HuRef nsv877432 3 127496062 127775854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543405 S 6533 0 1 C3orf22,CCDC37,CHST13,KLF15,TXNRD3NB,UROC1,ZXDC MS16153 nsv877433 3 127498357 127580539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549640 S 6533 0 1 KLF15 MS18276 nsv877434 3 127523292 127583737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548666 S 6533 1 0 KLF15 MS17878 dgv5245n71 3 127532124 127611318 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877435,nsv877437 M 6533 0 3 CCDC37,KLF15 IS39233,MS19584,MS22705 nsv877436 3 127543307 127658091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546530 S 6533 0 1 CCDC37,KLF15,ZXDC MS17208 esv29660 3 127558503 127559260 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15049 S 451 0 1 KLF15 NA07045 nsv877438 3 127566068 127622310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530479 S 6533 0 1 CCDC37 MS10311 nsv512812 3 127572837 127572935 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625447 S 1 1 0 "" 1 esv273360 3 127572849 127573832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580266 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv271317 3 127572849 127573884 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510234,essv2500863,essv2503195,essv2496677,essv2511408,essv2495243,essv2504471,essv2499363,essv2507994,essv2502315,essv2500241,essv2499489,essv2501670,essv2505560,essv2513209,essv2495327,essv2510369,essv2495904,essv2508497,essv2502507,essv2503837,essv2493440,essv2493350,essv2500245,essv2496792,essv2511719,essv2510688,essv2494230,essv2504035,essv2496515,essv2496234,essv2508929,essv2506060,essv2499951,essv2499855,essv2500626,essv2494502,essv2512662,essv2508204,essv2501070,essv2507101,essv2493947,essv2513563,essv2509226,essv2511593,essv2503072,essv2512383,essv2493061,essv2495994,essv2502715,essv2501455,essv2504814,essv2506676,essv2497111,essv2499795,essv2512122,essv2501741,essv2498124,essv2502009,essv2503576,essv2495797,essv2503973,essv2495073,essv2511553,essv2513097 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11830,NA11881,NA11894,NA11920,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12044,NA12144,NA12154,NA12249,NA12287,NA12414,NA12489,NA12717,NA12750,NA12761,NA12763,NA12776,NA12891,NA18498,NA18499,NA18501,NA18502,NA18505,NA18510,NA18511,NA18522,NA18523,NA18558,NA18562,NA18571,NA18572,NA18577,NA18579,NA18856,NA18870,NA18871,NA18907,NA18909,NA18940,NA18943,NA18949,NA18951,NA18961,NA18965,NA19093,NA19099,NA19108,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv829717 3 127598723 127784734 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443064 S 95 0 1 C3orf22,CCDC37,CHST13,TXNRD3NB,UROC1,ZXDC nsv877439 3 127617326 127638015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500611 S 6533 0 1 CCDC37 SP50159 esv993756 3 127662324 127662874 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565798 S 3 1 0 ZXDC HuRef nsv236874 3 127664608 127673253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255452 M 24 ZXDC dgv5246n71 3 127672609 127775854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877443,nsv877440 M 6533 0 2 C3orf22,CHST13,TXNRD3NB,UROC1,ZXDC IS39258,MS10311 esv27826 3 127676751 127678794 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19909,esv18206 M 451 0 3 ZXDC NA07045,NA12878,NA19190 dgv5247n71 3 127690482 127748396 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877442,nsv877441 M 6533 0 2 CHST13,UROC1 MS10769,MS17208 nsv521785 3 127694636 127697820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694097 S 2026 0 1 UROC1 esv24916 3 127717084 127718437 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14462 S 451 1 0 UROC1 NA11993 nsv877444 3 127721773 127748015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509803 S 6533 0 1 CHST13 SP54956 esv2435482 3 127740840 127741694 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174171 S 1 1 0 CHST13 NA18507 nsv822240 3 127742226 127744456 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432746 S 31 1 0 CHST13 NA18972 nsv822241 3 127743713 127744214 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423295 S 31 1 0 CHST13 NA18999 nsv525296 3 127816490 127822644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701402 S 2026 0 1 TXNRD3 nsv460842 3 127816490 127870565 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537342 S 1557 1 0 NUP210P1,TXNRD3 NINDS_4 nsv829718 3 127831444 128011343 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443065 S 95 1 0 CHCHD6,NUP210P1,TXNRD3 esv2585777 3 127840874 127842417 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335838 S 1 0 1 TXNRD3 NA18507 esv2005941 3 127841425 127842148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934897 S 1 0 1 TXNRD3 NA18507 esv987942 3 127841549 127842514 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564156 S 3 0 1 TXNRD3 HuRef esv2759 3 127841557 127842125 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25200 S 1 0 1 Single Asian sample YH TXNRD3 YH esv987935 3 127841613 127841939 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570136 S 3 0 1 TXNRD3 HuRef dgv126n6 3 127841613 127841955 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237189,nsv237278 M 24 TXNRD3 esv1465418 3 127841628 127841955 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173888 S 2 0 1 TXNRD3 HuRef esv7947 3 127841632 127841945 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30388 S 1 0 1 TXNRD3 SJK esv33263 3 127909230 127909913 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99854 S 51 1 0 CHCHD6 22086 esv268512 3 127985245 127985384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501444 S 157 1 0 Samples from several populations that are part of the HapMap project. CHCHD6 NA19093 esv2552936 3 128062783 128067184 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238119 S 1 0 1 CHCHD6 NA18507 esv22081 3 128062958 128067326 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12234 S 451 0 2 CHCHD6 NA12828,NA19108 nsv821409 3 128062958 128067326 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420338 S 1 0 1 CHCHD6 NA10851 nsv511217 3 128062991 128067490 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626743 S 1 0 1 CHCHD6 1 esv1444905 3 128063303 128065953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104085 S 2 0 1 CHCHD6 HuRef nsv829719 3 128108621 128260749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443066 S 95 1 0 CHCHD6,PLXNA1 nsv877445 3 128110471 128283463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543406 S 6533 0 1 CHCHD6,PLXNA1 MS16153 nsv3986 3 128115488 128150773 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv322 S 9 1 0 CHCHD6 NA19240 esv1002711 3 128119127 128129983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564163 S 3 0 1 CHCHD6 HuRef nsv526947 3 128147213 128165856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703317 S 2026 0 1 CHCHD6 esv3701 3 128150990 128151284 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26142 S 1 0 1 Single Asian sample YH CHCHD6 YH nsv237087 3 128151076 128151223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255665 M 24 CHCHD6 nsv460846 3 128160859 128214737 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537343 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHCHD6,PLXNA1 HGDP00614 dgv5248n71 3 128165856 128300473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877447,nsv877446,nsv877449,nsv877448,nsv877450,nsv877451 M 6533 0 13 PLXNA1 IS32322,IS33504,IS38403,IS39258,IS40799,MS10769,MS11237,MS11306,MS11726,MS13727,MS13770,MS17208,MS18276 esv23087 3 128184228 128188085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15851,esv11063 M 451 0 2 "" NA07045,NA12878 nsv3987 3 128202890 128235244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5984 S 9 1 0 PLXNA1 NA19129 nsv521490 3 128214849 128266679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694453 S 2026 0 1 PLXNA1 nsv470883 3 128269554 128303377 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547767,nssv547778 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543,HGDP00546 nsv877452 3 128278441 128323418 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548667 S 6533 1 0 "" MS17878 nsv527383 3 128281183 128283916 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703818 S 2026 0 1 "" nsv877453 3 128281183 128321431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563893 S 6533 0 1 "" IS30127 nsv508949 3 128281907 128332014 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623382 S 4 1 0 "" NA18994 nsv3989 3 128282712 128317804 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv324 S 9 1 0 "" NA19240 nsv877454 3 128287751 128345011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530481 S 6533 0 1 "" MS10311 nsv877455 3 128287751 128417127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546533 S 6533 0 1 "" MS17208 nsv877456 3 128350079 128446124 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563531 S 6533 1 0 "" MS26100 esv27458 3 128355723 128357421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13811 S 451 0 1 "" NA12828 nsv877457 3 128371559 128430393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543407 S 6533 0 1 "" MS16153 nsv829720 3 128462145 128622314 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443067 S 95 1 0 "" esv994236 3 128490713 128493051 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565092 S 3 1 0 "" HuRef nsv236680 3 128497980 128498993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255258 M 24 "" esv1368953 3 128498237 128498237 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888070 S 2 1 0 "" HuRef nsv829721 3 128558639 128757668 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443069,nssv1443068 M 95 1 1 "" nsv877458 3 128564605 128681184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546534 S 6533 0 1 "" MS17208 nsv516835 3 128641408 128644479 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654325,nssv654524,nssv673055,nssv676014,nssv680412 M 2026 0 5 "" nsv508950 3 128642770 128715764 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618019 S 4 1 0 "" CHM esv33778 3 128675544 128676434 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99215 S 51 1 0 "" 22275 dgv5249n71 3 128712260 128904176 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877460,nsv877459 M 6533 0 2 ABTB1,MCM2,MGLL,PODXL2,TPRA1 MS16153,MS18276 nsv509850 3 128712764 128718764 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623919,nssv622033 M 4 0 2 "" NA10860,NA18994 nsv509851 3 128717782 128723782 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618584 S 4 0 1 "" CHM esv33011 3 128721245 128721761 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98656 S 51 0 1 "" 21606 esv2653998 3 128812535 128813896 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166693 S 1 0 1 MCM2 NA18507 esv2102273 3 128813039 128813734 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577854 S 1 0 1 MCM2 NA18507 esv2555442 3 128813216 128813541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288253 S 1 0 1 MCM2 NA18507 esv29518 3 128830383 128831183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18698 S 451 0 1 PODXL2 NA07045 nsv460848 3 128869192 128903544 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537344 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABTB1,MGLL,PODXL2 HGDP00402 esv25145 3 128887029 128889240 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13076 S 451 0 1 "" NA07037 esv1191118 3 128895849 128895921 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045311 S 2 0 1 MGLL HuRef dgv1492e1 3 128898832 128916232 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1186,essv7957 M 271 0 0 MGLL NA19203 nsv3990 3 128933309 128966023 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2412 S 9 1 0 MGLL NA18555 esv268655 3 128978513 128978853 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506101,essv2498748,essv2497073,essv2501916,essv2498159 M 157 5 0 Samples from several populations that are part of the HapMap project. MGLL NA18523,NA19138,NA19190,NA19239,NA19240 esv274547 3 128978524 128978873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579065 S 7 1 0 Samples from several populations that are part of the HapMap project. MGLL NA19239 esv268225 3 129006264 129007794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518100 S 157 1 0 Samples from several populations that are part of the HapMap project. MGLL NA12872 esv27043 3 129012308 129012817 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17771 S 451 0 3 MGLL NA18861,NA19099,NA19129 nsv3991 3 129250285 129283204 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7029 S 9 1 0 RUVBL1,SEC61A1 NA12156 esv2477995 3 129270185 129270211 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223752 S 1 1 0 SEC61A1 NA18507 nsv508951 3 129314719 129346673 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619338,nssv618020 M 4 2 0 RUVBL1 CHM,NA10860 nsv3992 3 129319588 129364819 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9874,nssv3195,nssv10359,nssv325,nssv7030 M 9 5 0 EEFSEC,RUVBL1 NA12156,NA12878,NA18507,NA18956,NA19240 esv32985 3 129325644 129394373 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100736 S 51 0 1 EEFSEC 21656 esv271110 3 129525738 129525937 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511774,essv2505884,essv2507120,essv2509147,essv2501311,essv2504729,essv2509622 M 157 7 0 Samples from several populations that are part of the HapMap project. EEFSEC NA18499,NA18861,NA18870,NA18909,NA19093,NA19099,NA19129 nsv470894 3 129529333 129642049 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544366,nssv547789 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EEFSEC,MIR1280 HGDP00298,HGDP00697 dgv1493e1 3 129540383 129803870 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10956,essv12651,essv3986 M 271 0 0 C3orf27,DNAJB8,DNAJB8-AS1,EEFSEC,GATA2,LOC90246,MIR1280 NA18500,NA18970,NA19209 dgv1494e1 3 129540383 129920507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5339,essv20419,esv281,essv1171 M 271 0 0 C3orf27,DNAJB8,DNAJB8-AS1,EEFSEC,GATA2,LOC90246,MIR1280,RPN1 NA10830,NA18563,NA18951 nsv508240 3 129549208 129684010 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619921 S 4 0 1 DNAJB8,DNAJB8-AS1,EEFSEC,GATA2,MIR1280 NA15510 esv267423 3 129559346 129559696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510156,essv2510345,essv2512555,essv2494297,essv2503000,essv2493826,essv2494946,essv2505328,essv2507085,essv2495620,essv2497579,essv2502251 M 157 12 0 Samples from several populations that are part of the HapMap project. EEFSEC NA11829,NA12414,NA18489,NA18502,NA18507,NA18517,NA18520,NA18853,NA18870,NA18916,NA19147,NA19257 nsv3993 3 129573467 129607104 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7862 S 9 1 0 EEFSEC NA12156 nsv524397 3 129578342 129642049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700315 S 2026 0 1 EEFSEC nsv877461 3 129580186 129644838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592132 S 6533 0 1 EEFSEC IS39233 dgv5250n71 3 129580186 129705467 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877462,nsv877463 M 6533 0 2 DNAJB8,DNAJB8-AS1,EEFSEC,GATA2 MS10311,MS16153 nsv516926 3 129580186 129705467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700340,nssv655009,nssv689678 M 2026 0 3 DNAJB8,DNAJB8-AS1,EEFSEC,GATA2 nsv10316 3 129611422 129621158 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29023,nssv12953 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18552,NA18972 nsv470905 3 129652552 129675343 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544377 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNAJB8,DNAJB8-AS1 HGDP00978 esv2358722 3 129655552 129656031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601096 S 1 0 1 "" NA18507 esv3154 3 129655672 129655934 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25595 S 1 0 1 Single Asian sample YH "" YH nsv877464 3 129665068 129705467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575006 S 6533 0 1 DNAJB8,DNAJB8-AS1,GATA2 IS33684 nsv508241 3 129685006 129764105 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619922 S 4 0 1 GATA2,LOC90246 NA15510 nsv10318 3 129686027 129701807 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12840 S 31 1 0 Samples from several populations that are part of the HapMap project. GATA2 NA19221 essv17207 3 129716115 129920507 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C3orf27,RPN1 NA19171 nsv10319 3 129809247 129821522 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12870 S 31 1 0 Samples from several populations that are part of the HapMap project. RPN1 NA19221 esv32649 3 129812794 129821503 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99891 S 51 1 0 "" 22086 nsv508952 3 129814194 129883320 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619339 S 4 1 0 RPN1 NA10860 dgv36n50 3 129829459 129861109 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513652,nsv513651 M 1 0 0 RPN1 1 nsv3994 3 129841780 129885011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4679,nssv7031 M 9 2 0 RPN1 NA12156,NA19129 nsv511200 3 129847487 129864300 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626554 S 1 0 1 RPN1 1 nsv433360 3 129847487 129895407 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463241 S 9 1 0 Samples from several populations that are part of the HapMap project. RPN1 NA12156 esv1011326 3 129858929 129862036 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564205 S 3 1 0 "" HuRef nsv513072 3 129861640 129887089 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626558 S 1 0 1 "" 1 nsv821267 3 129861994 129862931 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420339 S 1 0 1 "" NA10851 esv24393 3 129861994 129896889 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12575,esv14323,esv14605 M 451 36 31 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv513733 3 129863142 129897453 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626985 S 1 1 0 "" 1 esv33932 3 129867187 129887919 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94413,essv95510 M 51 2 0 "" 21808,21847 nsv442874 3 129878180 129895021 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv820774 3 129886535 129897780 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420340 S 1 1 0 "" NA10851 nsv3995 3 129890183 129894013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7032 S 9 1 0 "" NA12156 nsv437853 3 129910429 129939750 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467734 S 60 0 1 Samples from several populations that are part of the HapMap project. RAB7A NA10859 nsv822243 3 129912914 129915650 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428178,nssv1438075 M 31 0 2 "" AK10,NA18951 esv23007 3 129913128 129915470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11008 S 451 0 1 "" NA15510 nsv877465 3 129981885 130174631 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548668 S 6533 1 0 ACAD9,KIAA1257,LOC653712,RAB7A MS17878 nsv877466 3 130016680 130135243 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585383 S 6533 1 0 ACAD9,LOC653712 IS37435 esv275085 3 130143378 130145849 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585620 S 1250 0 1 "" nsv3996 3 130144067 130194164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7863,nssv4666 M 9 0 2 KIAA1257 NA12156,NA19129 dgv5251n71 3 130188257 130398281 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877468,nsv877467 M 6533 0 2 CCDC48,CNBP,GP9,ISY1,ISY1-RAB43,KIAA1257,RAB43 IS35484,MS13770 nsv519919 3 130195068 130224332 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675604,nssv659505 M 2026 0 2 CCDC48,KIAA1257 dgv5252n71 3 130195068 130336975 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877469,nsv877470 M 6533 0 2 CCDC48,GP9,ISY1,ISY1-RAB43,KIAA1257,RAB43 MS10311,MS17208 esv990629 3 130204128 130212503 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564873 S 3 0 1 CCDC48 HuRef nsv877471 3 130245523 130361419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573759,nssv1589737,nssv1598092 M 6533 0 3 GP9,ISY1,ISY1-RAB43,RAB43 IS33504,IS38403,IS41317 dgv5253n71 3 130275441 130361419 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv877473,nsv877472 M 6533 3 15 ISY1,ISY1-RAB43,RAB43 IS30197,IS31082,IS33162,IS33263,IS33684,IS34207,IS35007,IS37577,IS37985,IS38262,IS38293,IS38388,IS38591,IS39817,IS40799,IS41648,IS41894,MS15835 nsv433217 3 130282197 130294138 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463098 S 9 0 1 Samples from several populations that are part of the HapMap project. ISY1-RAB43,RAB43 NA12878 nsv525302 3 130398281 130404119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701408 S 2026 0 1 "" esv1739284 3 130408533 130408613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786414 S 2 0 1 "" HuRef esv271968 3 130432554 130432949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510260,essv2495876,essv2509666,essv2505877,essv2495652,essv2497922,essv2493052,essv2505413,essv2502729,essv2500763,essv2506596,essv2499086,essv2499649 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA12489,NA18508,NA18861,NA18916,NA18945,NA18951,NA18952,NA18965,NA18973,NA19108,NA19114,NA19225 nsv829722 3 130479047 130562497 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443070 S 95 1 0 C3orf37,COPG,H1FX,H1FX-AS1 nsv877474 3 130484810 130548375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573760 S 6533 0 1 C3orf37,H1FX,H1FX-AS1 IS33504 nsv520607 3 130495434 130518659 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673067,nssv686167,nssv694125 M 2026 1 2 C3orf37,H1FX,H1FX-AS1 nsv822244 3 130515934 130519959 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432747 S 31 1 0 H1FX,H1FX-AS1 NA18972 nsv3997 3 130522074 130569796 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4680,nssv326,nssv10360 M 9 0 3 H1FX-AS1 NA18956,NA19129,NA19240 esv2522545 3 130530106 130532017 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171762 S 1 0 1 "" NA18507 esv25968 3 130545093 130547603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16848,esv18581 M 451 0 4 "" NA12006,NA18907,NA19108,NA19114 nsv877475 3 130551345 130652995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592602 S 6533 1 0 C3orf25,IFT122,MBD4,RPL32P3,SNORA7B IS39243 dgv824n67 3 130558361 130562612 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822248,nsv822247,nsv822249,nsv822245 M 31 0 9 "" NA18526,NA18537,NA18547,NA18552,NA18564,NA18570,NA18942,NA18949,NA18999 nsv822246 3 130558361 130567264 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427406 S 31 0 1 "" AK8 esv23781 3 130558517 130566573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20497,esv11738 M 451 0 18 "" NA07037,NA12004,NA12489,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv822250 3 130558875 130559793 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429712,nssv1430490,nssv1425651 M 31 0 3 "" AK14,AK16,AK4 nsv514994 3 130558880 130562464 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628488 S 1414 0 0 "" nsv877476 3 130582636 130691868 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528902 S 6533 1 0 C3orf25,IFT122,MBD4,RPL32P3,SNORA7B SP81388 esv2620174 3 130596114 130596232 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299046 S 1 0 1 RPL32P3 NA18507 esv271527 3 130619319 130619677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502346,essv2505522,essv2495852,essv2496412,essv2505772,essv2513473,essv2505388,essv2500522,essv2500816,essv2504736,essv2510846 M 157 11 0 Samples from several populations that are part of the HapMap project. C3orf25 NA12004,NA12154,NA12489,NA18510,NA18861,NA18907,NA18952,NA18956,NA18973,NA19099,NA19116 nsv877477 3 130625767 130640976 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517272,nssv1512377 M 6533 2 0 C3orf25,MBD4 SP55465,SP57238 nsv3998 3 130689589 130733898 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2413 S 9 0 1 IFT122,RHO NA18555 dgv5254n71 3 130706821 130816923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877479,nsv877478 M 6533 0 2 H1FOO,IFT122,PLXND1,RHO MS16153,MS18276 dgv5255n71 3 130706821 130846887 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877480,nsv877481 M 6533 0 2 H1FOO,IFT122,PLXND1,RHO IS39233,MS17208 esv27221 3 130717364 130718914 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15069 S 451 0 1 IFT122 NA18502 nsv822251 3 130736843 130737519 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431970,nssv1428957 M 31 0 2 RHO AK12,AK20 nsv522149 3 130745830 130816923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694923 S 2026 0 1 H1FOO,PLXND1 nsv508953 3 130746883 130849409 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619340 S 4 1 0 H1FOO,PLXND1,TMCC1 NA10860 nsv520828 3 130772442 130846887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697637 S 2026 0 1 PLXND1 nsv877482 3 130774755 131089517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587831 S 6533 1 0 PLXND1,TMCC1 IS38119 nsv519392 3 130782981 130846887 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682380,nssv681446,nssv655863 M 2026 3 0 PLXND1 esv27314 3 130806725 130809396 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13759 S 451 0 2 PLXND1 NA07045,NA12878 nsv516538 3 130865586 130986717 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686682,nssv668989,nssv674640,nssv692262,nssv663735 M 2026 5 0 TMCC1 nsv877483 3 130946227 131129379 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548669 S 6533 1 0 LOC100507032,TMCC1 MS17878 esv2543950 3 130988731 130990362 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322374 S 1 0 1 TMCC1 NA18507 esv2075495 3 131019794 131020356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910162 S 1 0 1 TMCC1 NA18507 nsv237038 3 131019935 131020084 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255616 M 24 TMCC1 esv1008617 3 131019940 131020114 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573499 S 3 0 1 TMCC1 HuRef esv1519846 3 131020040 131020215 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742469 S 2 0 1 TMCC1 HuRef nsv238037 3 131020091 131020215 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256615 M 24 TMCC1 nsv4000 3 131113190 131125072 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9626 S 9 1 0 "" NA18507 esv2545829 3 131139580 131141197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279640 S 1 0 1 "" NA18507 esv2169694 3 131139887 131140723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660251 S 1 0 1 "" NA18507 esv29891 3 131139942 131140563 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9746 S 451 0 6 "" NA12006,NA18505,NA18508,NA19099,NA19108,NA19129 esv6659 3 131139970 131140562 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29100 S 1 0 1 "" SJK dgv1495e1 3 131142157 131422672 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv733,essv19501,essv21533 M 271 0 0 ALG1L2,COL6A4P2,FAM86HP,TRH NA12864,NA12873 nsv10320 3 131153042 131155625 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11559 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv10321 3 131157458 131163095 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11464,nssv12308 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155 nsv460853 3 131163056 131192042 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537345 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRH HGDP01071 nsv508954 3 131187311 131285126 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623384 S 4 1 0 ALG1L2 NA18994 nsv508242 3 131187311 131314938 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618719 S 4 0 1 ALG1L2,FAM86HP NA10860 nsv877484 3 131192042 131314505 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594095 S 6533 1 0 ALG1L2,FAM86HP IS39687 dgv1496e1 3 131192337 131291445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13981,essv101,essv6200 M 271 0 0 ALG1L2 NA18563,NA19005,NA19098 essv5961 3 131192337 131311144 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ALG1L2,FAM86HP NA18577 nsv877485 3 131198486 131266585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501040 S 6533 0 1 "" SP50725 nsv10322 3 131202630 131207621 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12983,nssv29053,nssv12141,nssv12162,nssv12338 M 31 3 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18552,NA18860,NA18972 dgv1497e1 3 131213409 131422063 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8054,essv12892,essv1577,essv1303,essv19844,essv14951,essv20472,essv20985,essv21634,essv6422,essv6504,essv5778,essv744,essv7926,essv5681,essv8987,essv18522,essv6465,essv6786,essv25170,essv20690,essv17382,essv15447,essv21911,essv24091,essv14822,essv24448,essv23640,essv24021,essv23323,essv22252,essv18011,essv17355,essv944,essv13351,essv13289,essv21084,essv4349,essv12871,essv14914,essv15196,essv5836 M 271 0 0 ALG1L2,COL6A4P2,FAM86HP NA07048,NA07055,NA07348,NA10838,NA10854,NA10863,NA11840,NA11992,NA12234,NA12249,NA12264,NA12763,NA12802,NA12865,NA12873,NA12878,NA18500,NA18502,NA18504,NA18517,NA18522,NA18524,NA18540,NA18545,NA18572,NA18594,NA18605,NA18622,NA18637,NA18855,NA18870,NA18949,NA18980,NA18997,NA19003,NA19103,NA19129,NA19132,NA19194,NA19202,NA19206,NA19209 dgv1498e1 3 131220073 131282332 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1317,essv1053,essv2143,essv4322,essv21479,essv1085,essv2772,essv4512,essv2907,essv12930,essv14244,essv10,essv7623,essv5700,essv20534,essv19714,essv3496,essv20457,essv8574,essv4536,essv7490,essv20848,essv2569,essv18544,essv11396,essv1695,essv17683,essv5608,essv25040,essv6112,essv12119,essv5886,essv7657,essv19152,essv6844,essv23744,essv2427,essv19802,essv8906,essv6556,essv7441,essv7460,essv597,essv3321,essv25059,essv5629,essv3439,essv2118,essv1640,essv7913,essv3261,essv3933 M 271 0 0 "" NA06994,NA10830,NA10835,NA11829,NA11993,NA11995,NA12236,NA12801,NA12812,NA12813,NA12864,NA12892,NA18547,NA18550,NA18558,NA18561,NA18564,NA18566,NA18573,NA18576,NA18579,NA18582,NA18593,NA18623,NA18624,NA18632,NA18633,NA18945,NA18947,NA18948,NA18951,NA18956,NA18959,NA18961,NA18967,NA18968,NA18970,NA18973,NA18974,NA18975,NA18978,NA18990,NA18999,NA19000,NA19007,NA19094,NA19100,NA19130,NA19171,NA19173,NA19192,NA19239 dgv1499e1 3 131220073 131291445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12071,essv20809,essv24211,essv12087,essv21568,essv21745,essv13949,essv13223,essv14842,essv7984,essv11322,essv5006,essv8676,essv4116,essv7504,essv20708,essv9307,essv8490,essv6075,essv16594,essv1983,essv20488,essv21656,essv7956,essv2726,essv22707 M 271 0 0 ALG1L2 NA10855,NA10861,NA12004,NA12144,NA12146,NA12752,NA12761,NA12874,NA18529,NA18532,NA18571,NA18621,NA18852,NA18854,NA18860,NA18942,NA18965,NA19099,NA19101,NA19119,NA19120,NA19128,NA19160,NA19203,NA19238,NA19240 dgv1500e1 3 131220073 131339966 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv968,essv195,essv11360,essv13230,essv11595 M 271 0 0 ALG1L2,FAM86HP NA18858,NA18981,NA18994,NA19131,NA19207 dgv5256n71 3 131221600 131375659 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877487,nsv877486 M 6533 2 0 ALG1L2,FAM86HP IS32607,SP53759 nsv4001 3 131224293 131312177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7033,nssv2414,nssv3196 M 9 0 3 ALG1L2,FAM86HP NA12156,NA12878,NA18555 dgv1501e1 3 131225801 131311144 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21937,essv13263,essv13320,essv5882,essv7989,essv8250,essv8698,essv21502,essv7681,essv8083,essv12146,essv1817 M 271 0 0 ALG1L2,FAM86HP NA12003,NA12057,NA18505,NA18507,NA18562,NA18620,NA18912,NA18971,NA19153,NA19161,NA19201,NA19221 nsv877488 3 131232132 131282332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516914 S 6533 1 0 "" SP56975 esv1385336 3 131232629 131232708 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313781 S 2 0 1 "" HuRef dgv5257n71 3 131237362 131354899 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877489,nsv877491 M 6533 4 0 ALG1L2,FAM86HP IS34582,MS24563,SP52448,SP81553 nsv877490 3 131237362 131354899 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590045,nssv1552182 M 6533 1 1 ALG1L2,FAM86HP IS38448,MS19277 nsv829723 3 131241176 131424445 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443072,nssv1443071 M 95 2 0 ALG1L2,COL6A4P2,FAM86HP nsv820609 3 131244932 131314430 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420341 S 1 0 1 ALG1L2,FAM86HP NA10851 esv24757 3 131245607 131414704 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21126,esv14845,esv18933 M 451 19 3 ALG1L2,COL6A4P2,FAM86HP NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12878,NA15510,NA18502,NA18505,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19225,NA19240 esv3466 3 131245978 131289629 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25907 S 1 0 1 Single Asian sample YH ALG1L2 YH esv5945 3 131246064 131289437 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28386 S 1 0 1 ALG1L2 SJK nsv499012 3 131246070 131289438 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585873 S 9 0 1 ALG1L2 esv2422077 3 131246388 131288926 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016294,essv5006420,essv5130716,essv5151920,essv5076236,essv5112282,essv5109094,essv5134465,essv5158173,essv5116035,essv5035640,essv5064465,essv5157817,essv5130203,essv5125979,essv5128832,essv5095914,essv5028613,essv5143735,essv5160374,essv5134129,essv5017849,essv5129761,essv5071561,essv5141232,essv5036120,essv5130982,essv5136134,essv5026798,essv5008855,essv5123703,essv5017956,essv5120427,essv5157805,essv5112455,essv5033585,essv5124054,essv5100775,essv5004824,essv5034284,essv5015688,essv5076277,essv5029219,essv5023676,essv5143679,essv5074733,essv5085503,essv5041858,essv5072784,essv5064708,essv5070331,essv5058002,essv5096523,essv5014438,essv5138022,essv5007442,essv5086823,essv5094360,essv5017528,essv5026159,essv5038034,essv5039378,essv5006733,essv5083918,essv5128711,essv5030053,essv5149769,essv5029765,essv5022342,essv5002858,essv5061905,essv5158325,essv5132613,essv5038968,essv5109748,essv5127447,essv5107403,essv5032172,essv5022269,essv5128699,essv5145517,essv5065886,essv5160765,essv5154802,essv5104691,essv5011565,essv5120239,essv5002746,essv5039555,essv5021503,essv5069200,essv5081304,essv5010696,essv5103610,essv5047306,essv5149200,essv5098517,essv5134556,essv5146984,essv5073226,essv5024001,essv5071466,essv5141864,essv5082764,essv5005692,essv5044903,essv5010626,essv5038284,essv5083821,essv5159324,essv5029793,essv5077245,essv5038018,essv5069866,essv5155606,essv5139673,essv5148888,essv5020238,essv5016744,essv5047227,essv5067513,essv5159630,essv5037718,essv5118411,essv5126031,essv5048122,essv5145850,essv5031796,essv5005169,essv5147440,essv5002280,essv5002615,essv5100597,essv5023334,essv5083609,essv5002130,essv5077388,essv5054976,essv5077205,essv5121109,essv5075435,essv5108976,essv5138608,essv5105273,essv5042417,essv5026449,essv5073151,essv5121042,essv5030011,essv5043304,essv5022124,essv5119377,essv5144960,essv5036945,essv5061136,essv5068268,essv5150697,essv5147933,essv5064555,essv5140551,essv5077411,essv5062533,essv5122977,essv5115920,essv5146760,essv5141320,essv5126776,essv5010461,essv5024994,essv5130544,essv5121035,essv5018281,essv5134520,essv5032525,essv5061890,essv5133466,essv5017180,essv5040629,essv5111444,essv5098480,essv5091349,essv5041023,essv5144852,essv5158379,essv5136143,essv5091495,essv5120266,essv5158922,essv5134064,essv5154475,essv5052142,essv5087284,essv5024746,essv5031309,essv5051500,essv5039649,essv5059484,essv5089651,essv5030816,essv5106880,essv5120164,essv5094164,essv5127392,essv5013084,essv5029563,essv5157075,essv5139881,essv5091836,essv5155185,essv5143332,essv5092871,essv5110357,essv5006573,essv5054454,essv5027437,essv5140438,essv5125065,essv5092822,essv5058015,essv5036592,essv5044687,essv5126623,essv5068586,essv5106629,essv5155087,essv5068112,essv5157517,essv5027549,essv5017696,essv5047946,essv5103995,essv5037979,essv5061706,essv5074868,essv5024495,essv5096119,essv5045820,essv5113932,essv5059661,essv5063985,essv5150891,essv5023945,essv5030002,essv5071537,essv5029258,essv5074279,essv5041251,essv5102460,essv5137672,essv5037833,essv5124622,essv5094960,essv5143106,essv5063324,essv5081594,essv5070342,essv5013728,essv5026643,essv5069018,essv5014523,essv5007944,essv5114792,essv5015247,essv5040613,essv5138281,essv5039775,essv5122151,essv5139140,essv5070113,essv5081297,essv5145385,essv5121684,essv5149246,essv5039277,essv5039705,essv5108034,essv5029234,essv5094391,essv5120718,essv5091963,essv5067523,essv5111885,essv5138892,essv5118431,essv5135379,essv5023371,essv5007963,essv5056224,essv5061204,essv5118024,essv5044364,essv5132120,essv5116130,essv5026137,essv5080671,essv5041693,essv5087908,essv5115720,essv5017215,essv5088862,essv5003410,essv5079700,essv5078132,essv5077380,essv5126524,essv5118703,essv5040690,essv5139296,essv5056910,essv5153295,essv5014219,essv5114791,essv5064903,essv5055750,essv5074171,essv5013581,essv5094785,essv5107414,essv5142095,essv5034035,essv5151624,essv5090522,essv5064136,essv5055069,essv5065682,essv5097293,essv5061949,essv5041855,essv5030926,essv5130105,essv5073374,essv5114711,essv5093439,essv5128960,essv5033922,essv5075383,essv5128170,essv5151076,essv5012484,essv5064530,essv5004510,essv5032451,essv5110928,essv5119856,essv5103101,essv5006488,essv5100758,essv5030814,essv5038989,essv5154166,essv5103168,essv5014465,essv5132657,essv5099579,essv5115114,essv5127358,essv5035955,essv5112491,essv5119909,essv5157237,essv5092318,essv5140799,essv5143683,essv5119543,essv5117047,essv5012334,essv5152145,essv5006707,essv5093567,essv5094376,essv5053373,essv5052253,essv5143215,essv5066181,essv5144535,essv5020242,essv5097544,essv5063369,essv5118846,essv5034194,essv5141094,essv5048264,essv5156666,essv5025531,essv5026766,essv5136447,essv5065551,essv5127765,essv5005230,essv5022859,essv5034103,essv5129784,essv5131268,essv5068091,essv5036074,essv5021084,essv5149706,essv5023186,essv5052237,essv5081902,essv5155499,essv5076790,essv5026634,essv5028061,essv5132078,essv5119172,essv5039930,essv5063578,essv5113853,essv5062918,essv5140575,essv5086224,essv5099035,essv5125894,essv5159541,essv5058671,essv5148226,essv5066748,essv5094285,essv5113679,essv5141123,essv5048357,essv5107274,essv5086980,essv5010662,essv5083312,essv5042560,essv5099390,essv5013231,essv5009968,essv5127172,essv5133887,essv5047201,essv5148869,essv5158060,essv5157769,essv5143177,essv5151482,essv5143238,essv5114546,essv5045228,essv5101858,essv5083681,essv5070773,essv5034195,essv5028679,essv5006711,essv5158830,essv5013670,essv5044902,essv5068583,essv5058299,essv5158863,essv5045390,essv5047203,essv5021100,essv5023101,essv5005181,essv5047094,essv5079601,essv5004999,essv5014912,essv5131709,essv5077613,essv5160031,essv5008804,essv5114323,essv5108349,essv5023864,essv5119611,essv5011921,essv5102935,essv5051854,essv5128449,essv5029180,essv5020834,essv5024981,essv5137489,essv5037458,essv5129482,essv5146986,essv5122631,essv5062975,essv5009853,essv5038830,essv5010745,essv5150548,essv5118381,essv5056403,essv5039059,essv5078772,essv5063349,essv5032644,essv5142771,essv5130099,essv5154139,essv5157025 M 1184 0 497 ALG1L2 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA07000,NA07022,NA07037,NA07045,NA07056,NA07345,NA07346,NA07347,NA07348,NA07357,NA07435,NA10831,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10853,NA10854,NA10856,NA10859,NA10865,NA11830,NA11831,NA11839,NA11840,NA11881,NA11882,NA11891,NA11918,NA11919,NA11920,NA11930,NA11992,NA11994,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12145,NA12155,NA12156,NA12239,NA12273,NA12286,NA12287,NA12336,NA12341,NA12342,NA12343,NA12344,NA12348,NA12383,NA12413,NA12489,NA12707,NA12708,NA12716,NA12718,NA12739,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12766,NA12767,NA12775,NA12776,NA12778,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12832,NA12843,NA12864,NA12872,NA12873,NA12875,NA12877,NA12878,NA12890,NA12891,NA12892,NA17968,NA17969,NA17974,NA17975,NA17983,NA17987,NA17989,NA17996,NA17998,NA18102,NA18114,NA18118,NA18120,NA18124,NA18125,NA18127,NA18129,NA18133,NA18135,NA18136,NA18138,NA18140,NA18143,NA18149,NA18151,NA18152,NA18153,NA18156,NA18158,NA18159,NA18485,NA18488,NA18489,NA18497,NA18498,NA18499,NA18503,NA18504,NA18506,NA18508,NA18515,NA18516,NA18526,NA18536,NA18537,NA18545,NA18552,NA18555,NA18557,NA18570,NA18572,NA18594,NA18595,NA18608,NA18609,NA18611,NA18612,NA18613,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18627,NA18630,NA18631,NA18635,NA18636,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18674,NA18704,NA18740,NA18745,NA18747,NA18748,NA18757,NA18853,NA18857,NA18862,NA18867,NA18869,NA18871,NA18940,NA18949,NA18960,NA18966,NA18972,NA18976,NA18977,NA18987,NA18991,NA18995,NA19001,NA19028,NA19038,NA19055,NA19056,NA19057,NA19058,NA19059,NA19074,NA19075,NA19078,NA19084,NA19102,NA19114,NA19127,NA19144,NA19146,NA19147,NA19148,NA19152,NA19181,NA19183,NA19190,NA19193,NA19200,NA19204,NA19206,NA19208,NA19214,NA19221,NA19222,NA19223,NA19257,NA19258,NA19310,NA19314,NA19317,NA19328,NA19332,NA19350,NA19379,NA19391,NA19396,NA19398,NA19403,NA19431,NA19435,NA19443,NA19445,NA19452,NA19457,NA19467,NA19474,NA19625,NA19654,NA19656,NA19659,NA19661,NA19662,NA19664,NA19665,NA19684,NA19685,NA19700,NA19701,NA19702,NA19712,NA19713,NA19719,NA19720,NA19721,NA19722,NA19723,NA19746,NA19747,NA19750,NA19755,NA19756,NA19757,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19773,NA19774,NA19775,NA19777,NA19779,NA19780,NA19783,NA19784,NA19789,NA19790,NA19794,NA19796,NA19834,NA19836,NA19900,NA19909,NA19914,NA19915,NA19985,NA20126,NA20129,NA20281,NA20287,NA20288,NA20292,NA20294,NA20322,NA20332,NA20334,NA20335,NA20342,NA20343,NA20347,NA20356,NA20357,NA20358,NA20360,NA20363,NA20364,NA20502,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20517,NA20519,NA20521,NA20522,NA20524,NA20525,NA20528,NA20529,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20544,NA20581,NA20582,NA20586,NA20589,NA20755,NA20758,NA20759,NA20765,NA20766,NA20768,NA20770,NA20771,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20795,NA20797,NA20799,NA20802,NA20803,NA20804,NA20806,NA20808,NA20810,NA20811,NA20813,NA20816,NA20818,NA20819,NA20826,NA20845,NA20846,NA20849,NA20851,NA20853,NA20856,NA20858,NA20859,NA20862,NA20866,NA20871,NA20872,NA20874,NA20875,NA20876,NA20877,NA20879,NA20883,NA20885,NA20887,NA20888,NA20890,NA20892,NA20894,NA20896,NA20898,NA20899,NA20901,NA20902,NA20903,NA20904,NA20906,NA21086,NA21094,NA21099,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21109,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21137,NA21141,NA21142,NA21144,NA21301,NA21307,NA21311,NA21312,NA21314,NA21317,NA21333,NA21339,NA21352,NA21353,NA21356,NA21360,NA21370,NA21371,NA21378,NA21381,NA21383,NA21385,NA21386,NA21399,NA21400,NA21401,NA21405,NA21408,NA21414,NA21421,NA21435,NA21453,NA21454,NA21478,NA21479,NA21480,NA21485,NA21489,NA21490,NA21494,NA21509,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21578,NA21580,NA21587,NA21600,NA21601,NA21617,NA21631,NA21650,NA21682,NA21716,NA21717,NA21718,NA21776,NA21784 esv993528 3 131246388 131288926 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586019 S 3 1 0 ALG1L2 HuRef nsv442875 3 131246388 131288926 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ALG1L2 nsv514995 3 131246432 131282968 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628489 S 1414 0 0 "" dgv1502e1 3 131249017 131282332 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12031,essv3683,essv10981,essv5429,essv22608,essv18796,essv23703,essv2718,essv630,essv3593 M 271 0 0 "" NA12154,NA12248,NA12740,NA18542,NA18943,NA18944,NA18969,NA18998,NA19092,NA19116 dgv1503e1 3 131249017 131291445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18878,essv6066,essv9563,essv22029,essv13507,essv991 M 271 0 0 ALG1L2 NA07029,NA12815,NA18603,NA18861,NA18914,NA18964 dgv1504e1 3 131249017 131375659 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18467,essv14676,essv14010 M 271 0 0 ALG1L2,FAM86HP NA11832,NA19145,NA19222 nsv428420 3 131249363 131459232 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454278 S 62 1 0 ALG1L2,COL6A4P2,FAM86HP HGDP00449 nsv822252 3 131256242 131314430 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440976 S 31 1 0 ALG1L2,FAM86HP NA18969 dgv1505e1 3 131259245 131282332 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8975,essv10603,essv3833,essv13360,essv502 M 271 0 0 "" NA18952,NA18953,NA19139,NA19159,NA19211 dgv1506e1 3 131259245 131291445 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9279,essv7247,essv14213 M 271 0 0 ALG1L2 NA18635,NA18913,NA19137 essv10508 3 131259245 131311144 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ALG1L2,FAM86HP NA19143 nsv433361 3 131260491 131392498 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463242 S 9 1 0 Samples from several populations that are part of the HapMap project. ALG1L2,FAM86HP NA19240 nsv877492 3 131266923 131381202 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527210 S 6533 1 0 ALG1L2,FAM86HP SP58241 nsv10323 3 131269227 131280317 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11544,nssv29054,nssv12133 M 31 2 1 Samples from several populations that are part of the HapMap project. "" NA18504,NA18563,NA18975 nsv437880 3 131271623 131275786 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471380,nssv471381,nssv471374,nssv471376,nssv471375,nssv471378,nssv471377 M 269 0 7 Samples from several populations that are part of the HapMap project. "" NA18545,NA18572,NA18594,NA18621,NA18622,NA18635,NA18949 essv15175 3 131272588 131276428 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19210 nsv437340 3 131272588 131327151 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467221 S 60 0 1 Samples from several populations that are part of the HapMap project. ALG1L2,FAM86HP NA18506 dgv1507e1 3 131276428 131415936 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21607,essv11062 M 271 0 0 ALG1L2,COL6A4P2,FAM86HP NA12155,NA19138 esv2455918 3 131297351 131398430 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339120 S 1 0 1 ALG1L2,FAM86HP NA18507 dgv1508e1 3 131311144 131416338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8413,essv15962,essv9495,essv18901,essv983 M 271 0 0 COL6A4P2,FAM86HP NA12717,NA18964,NA19093,NA19142,NA19154 nsv10324 3 131312521 131314281 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12368 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM86HP NA12155 nsv877493 3 131354899 131415936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592603 S 6533 1 0 COL6A4P2 IS39243 esv1782108 3 131368716 131368716 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886259 S 2 1 0 "" HuRef esv1176775 3 131395385 131395701 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097694 S 2 0 1 "" HuRef esv271894 3 131421081 131421421 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514633,essv2516737,essv2519206,essv2514119,essv2518816,essv2514755,essv2518498,essv2515021,essv2516518,essv2515584,essv2518143,essv2516024,essv2514345,essv2517650,essv2516251,essv2516861,essv2515842,essv2517176,essv2518960,essv2513841,essv2515263,essv2518888,essv2518195,essv2519484 M 157 24 0 Samples from several populations that are part of the HapMap project. COL6A4P2 NA07346,NA11840,NA11881,NA11894,NA12043,NA12045,NA12234,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18969,NA18970,NA19141,NA19143,NA19238,NA19239,NA19240 esv273557 3 131421085 131421417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582022,essv2582410,essv2582840,essv2584160,essv2584689,essv2583592 M 7 6 0 Samples from several populations that are part of the HapMap project. COL6A4P2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1094969 3 131421114 131421114 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680427 S 2 1 0 COL6A4P2 HuRef nsv877494 3 131474992 131873713 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571129 S 6533 1 0 COL6A4P2,COL6A5,COL6A6 IS32607 nsv4002 3 131486865 131509959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9627 S 9 1 0 "" NA18507 esv269755 3 131565710 131566062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497730 S 157 1 0 Samples from several populations that are part of the HapMap project. COL6A5 NA19147 esv34166 3 131575883 131971311 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 COL6A5,COL6A6,PIK3R4 nsv437854 3 131608040 131616765 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467735 S 60 0 1 Samples from several populations that are part of the HapMap project. COL6A5 NA10863 nsv515803 3 131614547 131615199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692064,nssv669118,nssv671588,nssv681222,nssv664827,nssv662906,nssv667029,nssv684679,nssv680654 M 2026 0 9 COL6A5 nsv526814 3 131614547 131617253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703168 S 2026 1 0 COL6A5 esv23758 3 131614649 131615580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10225 S 451 0 1 COL6A5 NA12878 nsv437881 3 131615541 131616310 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471383,nssv471382 M 269 0 2 Samples from several populations that are part of the HapMap project. COL6A5 NA10863,NA12234 dgv5258n71 3 131645085 131738065 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877495,nsv877496 M 6533 0 8 COL6A5 IS32999,IS34745,IS36098,IS37156,IS37992,IS38430,IS40520,IS41549 nsv460854 3 131660430 131722414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537346 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL6A5 HGDP00088 nsv520849 3 131691948 131697251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697648 S 2026 0 1 "" esv1530825 3 131701020 131701140 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312425 S 2 0 1 "" HuRef esv259719 3 131726118 131726768 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397718,essv2399240,essv2396131,essv2398024 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18508,NA18523,NA19147 nsv4003 3 131746319 131779899 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv327,nssv7864 M 9 2 0 COL6A6 NA12156,NA19240 nsv521211 3 131800652 131803538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685250,nssv693471 M 2026 0 2 COL6A6 nsv508243 3 131811830 131850457 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617480 S 4 0 1 COL6A6 CHM nsv4004 3 131816824 131872763 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9628,nssv328,nssv4681 M 9 0 3 COL6A6 NA18507,NA19129,NA19240 nsv4005 3 131820490 131854398 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7866 S 9 1 0 COL6A6 NA12156 nsv460855 3 131829269 131950261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537347 S 1557 0 1 COL6A6,PIK3R4 1780854255_A esv2639906 3 131829317 131837054 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334210 S 1 0 1 COL6A6 NA18507 esv2450346 3 131829844 131836772 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207773 S 1 0 1 COL6A6 NA18507 esv2271871 3 131830063 131836001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727850 S 1 0 1 COL6A6 NA18507 dgv83n16 3 131830198 131837699 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435771,nsv436361 M 2 0 2 COL6A6 NA15510,NA18505 esv4329 3 131830235 131835856 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26770 S 1 0 1 Single Asian sample YH COL6A6 YH esv5883 3 131830267 131835802 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28324 S 1 0 1 COL6A6 SJK nsv877497 3 131894237 131944166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503644 S 6533 0 1 PIK3R4 SP52093 nsv509852 3 131895246 131901246 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618585 S 4 0 1 PIK3R4 CHM esv2562128 3 132121617 132123010 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355318 S 1 0 1 ATP2C1 NA18507 esv2418561 3 132188237 132188648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836622 S 1 0 1 ATP2C1 NA18507 nsv877498 3 132221669 132316084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499827 S 6533 1 0 ASTE1,NEK11 SP50098 nsv524200 3 132354739 132376534 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700085 S 2026 0 1 NEK11 nsv877499 3 132437274 132540606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527519 S 6533 0 1 LOC339874,NEK11 SP58505 nsv4006 3 132521887 132553735 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4682 S 9 1 0 LOC339874,NEK11 NA19129 esv274484 3 132552434 132558528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580442,essv2580906,essv2579005,essv2579700 M 7 4 0 Samples from several populations that are part of the HapMap project. LOC339874 NA12891,NA19238,NA19239,NA19240 esv270743 3 132552441 132558523 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520866,essv2556882,essv2552387,essv2578596,essv2550063,essv2539224,essv2527207,essv2561594,essv2562300,essv2575027,essv2538803,essv2560556,essv2523997,essv2574975,essv2572616,essv2568747,essv2571298,essv2545960,essv2551297 M 157 19 0 Samples from several populations that are part of the HapMap project. LOC339874 NA18498,NA18501,NA18502,NA18510,NA18511,NA18519,NA18522,NA18523,NA18909,NA19102,NA19108,NA19116,NA19129,NA19138,NA19143,NA19147,NA19238,NA19239,NA19257 nsv877500 3 132561539 132580923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509492 S 6533 0 1 LOC339874,NUDT16P1 SP54803 nsv829724 3 132568459 132759075 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443078,nssv1443077,nssv1443076,nssv1443075 M 95 4 0 CPNE4,LOC339874,MRPL3,NUDT16,SNORA58 esv2610543 3 132652548 132654049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296633 S 1 0 1 "" NA18507 nsv819184 3 132770725 132772796 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419379 S 2 0 1 CPNE4 AK1 esv275136 3 132773688 132781922 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585655 S 1250 0 1 CPNE4 esv2557143 3 132797366 132798960 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226428 S 1 0 1 CPNE4 NA18507 esv2322581 3 132797688 132798377 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639804 S 1 0 1 CPNE4 NA18507 dgv1509e1 3 132802561 132855383 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1346,essv7667 M 271 0 0 CPNE4 NA18632 esv2514810 3 132836771 132838292 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210909 S 1 0 1 CPNE4 NA18507 esv2040947 3 132837153 132837827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681264 S 1 0 1 CPNE4 NA18507 esv5730 3 132837329 132837629 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28171 S 1 0 1 CPNE4 SJK nsv829725 3 132888596 133050011 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443080,nssv1443081,nssv1443079 M 95 3 0 CPNE4 nsv516494 3 132943129 132979697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668680,nssv680070 M 2026 0 2 CPNE4 nsv4007 3 132984128 133015100 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7034 S 9 0 1 CPNE4 NA12156 esv1088025 3 132994204 132994204 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175078 S 2 1 0 CPNE4 HuRef nsv822255 3 133007706 133008233 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436498 S 31 0 1 CPNE4 NA18542 esv2574380 3 133015539 133017156 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378973 S 1 0 1 CPNE4 NA18507 esv1987535 3 133015909 133016637 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783905 S 1 0 1 CPNE4 NA18507 nsv527967 3 133016495 133018564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704479 S 2026 0 1 CPNE4 esv271993 3 133017398 133017483 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514129 S 157 1 0 Samples from several populations that are part of the HapMap project. CPNE4 NA12043 nsv4008 3 133060867 133094132 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7867 S 9 1 0 CPNE4 NA12156 esv22316 3 133077838 133090356 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14581,esv20936,esv16838 M 451 4 0 CPNE4 NA12489,NA12828,NA19108,NA19240 nsv829727 3 133130344 133286135 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443083,nssv1443082 M 95 1 1 CPNE4 esv22482 3 133157220 133158891 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12403 S 451 2 0 CPNE4 NA12414,NA19129 esv2637398 3 133159966 133161448 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174502 S 1 0 1 CPNE4 NA18507 esv2039184 3 133160316 133161028 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952589 S 1 0 1 CPNE4 NA18507 esv8024 3 133160526 133160836 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30465 S 1 0 1 CPNE4 SJK nsv508955 3 133168941 133168941 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623385 S 4 1 0 CPNE4 NA18994 nsv508244 3 133177467 133204342 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619923 S 4 0 1 CPNE4 NA15510 nsv511224 3 133178793 133196256 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624389 S 1 0 1 CPNE4 1 nsv512813 3 133179357 133180505 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625448 S 1 1 0 CPNE4 1 esv1724962 3 133179982 133179982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017572 S 2 1 0 CPNE4 HuRef nsv4009 3 133190540 133232152 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2415 S 9 0 1 CPNE4 NA18555 nsv513073 3 133190728 133196361 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626559 S 1 0 1 CPNE4 1 nsv10325 3 133190812 133197320 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28389,nssv29083,nssv28879,nssv28893,nssv28889,nssv29074,nssv11553,nssv28628,nssv29084,nssv28660,nssv12398,nssv13013,nssv11589 M 31 0 13 Samples from several populations that are part of the HapMap project. CPNE4 NA07029,NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18552,NA18563,NA18572,NA18942,NA18972 esv2421563 3 133190847 133195707 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107000,essv5144448,essv5010799,essv5086777,essv5158948,essv5031760,essv5090583,essv5033665,essv5011429,essv5053382,essv5059767,essv5159346,essv5029999,essv5079696,essv5091276,essv5147402,essv5043420,essv5015334,essv5028709,essv5015941,essv5105674,essv5145607,essv5046283,essv5018844,essv5012747,essv5082516,essv5012764,essv5099514,essv5003249,essv5062190,essv5026254,essv5138569,essv5013338,essv5006139,essv5081245,essv5151185,essv5072617,essv5147747,essv5104470,essv5019435,essv5104831,essv5124135,essv5158772,essv5141476,essv5096229,essv5070873,essv5147336,essv5071687,essv5125923,essv5130824,essv5007588,essv5002658,essv5088455,essv5014278,essv5152212,essv5152674,essv5002307,essv5028464,essv5024609,essv5019138,essv5020856,essv5120390,essv5114402,essv5003761,essv5150398,essv5146562,essv5127360,essv5077808,essv5102467,essv5054405,essv5097521,essv5024305,essv5019099,essv5101946,essv5031150,essv5141545,essv5010004,essv5009554,essv5138851,essv5051429,essv5129242,essv5042196,essv5062835,essv5009111,essv5106874,essv5106195,essv5017344,essv5147175,essv5128643,essv5127365,essv5011573,essv5050208,essv5033128,essv5093132,essv5115657,essv5114510,essv5072279,essv5125940,essv5110569,essv5137611,essv5004584,essv5157183,essv5005741,essv5042393,essv5153933,essv5078352,essv5044411,essv5115998,essv5132729,essv5126201,essv5064620,essv5044667,essv5155366,essv5067028,essv5114087,essv5114116,essv5007405,essv5089977,essv5066995,essv5040415,essv5082665,essv5145465,essv5081944,essv5065042,essv5056873,essv5025673,essv5099278,essv5099685,essv5061001,essv5108584,essv5118814,essv5083336,essv5068477,essv5135926,essv5132203,essv5160382,essv5068869,essv5029296,essv5029806,essv5147281,essv5145109,essv5039090,essv5020504,essv5073172,essv5072206,essv5127519,essv5082472,essv5036245,essv5089356,essv5011448,essv5019406,essv5043642,essv5066534,essv5088665,essv5151556,essv5053274,essv5013697,essv5078161,essv5006691,essv5085642,essv5046294,essv5008630,essv5139413,essv5020666,essv5078474,essv5061903,essv5025725,essv5153273,essv5126438,essv5069449,essv5085513,essv5143390,essv5089757,essv5157685,essv5061586,essv5148650,essv5008296,essv5143359,essv5138025,essv5066555,essv5098386,essv5030202,essv5010914,essv5046812,essv5006252,essv5071992,essv5137926,essv5132144,essv5141689,essv5157066,essv5126754,essv5063074,essv5032540,essv5051597,essv5071633,essv5018910,essv5129633,essv5043987,essv5015630,essv5069742,essv5154685,essv5048471,essv5055153,essv5028876,essv5049285,essv5063382,essv5054481,essv5036202,essv5131103,essv5099311,essv5003580,essv5070741,essv5005764,essv5072264,essv5061669,essv5007511,essv5087637,essv5143022,essv5127699,essv5118615,essv5113900,essv5154256,essv5035194,essv5075086,essv5127988,essv5102671,essv5115270,essv5015919,essv5141265,essv5130769,essv5004663,essv5115617,essv5087425,essv5154985,essv5059758,essv5012905,essv5035271,essv5066136,essv5054167,essv5042523,essv5056712,essv5063843,essv5121238,essv5119173,essv5140444,essv5154636,essv5137195,essv5025595,essv5013714,essv5096799,essv5018590,essv5076005,essv5160785,essv5156383,essv5123870,essv5008797,essv5132794,essv5022785,essv5058119,essv5115376,essv5002579,essv5037874,essv5138479,essv5047853,essv5076989,essv5157641,essv5069887,essv5040560,essv5038498,essv5043046,essv5150718,essv5119284,essv5094324,essv5139667,essv5022280,essv5024979,essv5144703,essv5072307,essv5002775,essv5017946,essv5146467,essv5017342,essv5150133,essv5114865,essv5023071,essv5120808,essv5130707,essv5014950,essv5065783,essv5099421,essv5155761,essv5055425,essv5028353,essv5149827,essv5013076,essv5160943,essv5111138,essv5022187,essv5059889,essv5028736,essv5008086,essv5154622,essv5017186,essv5087418,essv5154901,essv5099863,essv5008827,essv5021592,essv5131775,essv5108132,essv5096956,essv5160167,essv5122991,essv5087362,essv5079963,essv5002738,essv5082744,essv5153932,essv5061649,essv5058387,essv5032491,essv5086422,essv5028391,essv5045460,essv5112720,essv5066598,essv5149688,essv5108319,essv5070264,essv5022688,essv5125252,essv5063358,essv5070400,essv5086446,essv5011201,essv5053877,essv5141041,essv5025086,essv5070462,essv5103883,essv5156517,essv5094865,essv5100375,essv5129142,essv5024207,essv5101408,essv5146851,essv5009586,essv5096043,essv5056523,essv5043405,essv5138731,essv5119291,essv5115900,essv5128649,essv5089130,essv5026998,essv5081244,essv5060989,essv5034403,essv5151866,essv5062425,essv5148587,essv5068596,essv5018269,essv5050939,essv5110553,essv5147858,essv5118479,essv5085298,essv5042859,essv5050733,essv5040367,essv5148132,essv5131785,essv5139336,essv5122615,essv5118944,essv5051371,essv5093947,essv5154500,essv5118518,essv5138913,essv5095228,essv5049954,essv5019295,essv5108535,essv5031659,essv5087827,essv5049645,essv5060970,essv5133303,essv5006243,essv5010702,essv5024812,essv5031187,essv5081482,essv5129671,essv5053132,essv5157240,essv5153034,essv5044690,essv5025075,essv5032789,essv5104902,essv5071323,essv5136688,essv5052188,essv5016563,essv5029945,essv5030444,essv5120943,essv5036333,essv5122163,essv5141357,essv5008473,essv5101648,essv5064417,essv5038621,essv5067145,essv5010471,essv5121674,essv5050543,essv5016337,essv5067195,essv5135985,essv5045685,essv5049677,essv5071524,essv5101355,essv5098473,essv5047268,essv5082241,essv5010455,essv5082778,essv5071053,essv5109907,essv5124809,essv5098997,essv5110988,essv5058291,essv5057166,essv5147490,essv5095662,essv5108773,essv5127776,essv5134027,essv5044445,essv5066763,essv5073518,essv5115125,essv5020133,essv5006335,essv5018650,essv5099374,essv5060063,essv5061282,essv5135069,essv5102004,essv5005573,essv5010789,essv5059799,essv5109919,essv5077371,essv5113147,essv5027198,essv5128261,essv5073710,essv5015699,essv5068509,essv5104807,essv5153156,essv5008429,essv5129666,essv5035824,essv5024299,essv5033888,essv5159968,essv5127542,essv5123379,essv5023738,essv5152062 M 1184 0 482 CPNE4 NA06984,NA06993,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07055,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10843,NA10845,NA10850,NA10852,NA10853,NA10855,NA10859,NA10861,NA10863,NA10864,NA10865,NA11830,NA11831,NA11832,NA11840,NA11843,NA11882,NA11892,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11994,NA12003,NA12005,NA12043,NA12056,NA12057,NA12144,NA12145,NA12154,NA12155,NA12234,NA12239,NA12264,NA12272,NA12273,NA12287,NA12336,NA12340,NA12342,NA12348,NA12375,NA12383,NA12399,NA12413,NA12707,NA12708,NA12716,NA12740,NA12749,NA12750,NA12751,NA12753,NA12761,NA12763,NA12766,NA12767,NA12775,NA12777,NA12801,NA12802,NA12813,NA12814,NA12818,NA12829,NA12830,NA12842,NA12843,NA12864,NA12865,NA12872,NA12874,NA12875,NA12878,NA12891,NA17962,NA17965,NA17966,NA17968,NA17969,NA17974,NA17975,NA17980,NA17982,NA17983,NA17986,NA17987,NA17989,NA17997,NA17998,NA17999,NA18102,NA18106,NA18107,NA18109,NA18114,NA18118,NA18129,NA18133,NA18135,NA18138,NA18139,NA18141,NA18143,NA18146,NA18148,NA18149,NA18150,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18166,NA18511,NA18524,NA18532,NA18534,NA18536,NA18542,NA18543,NA18544,NA18545,NA18550,NA18552,NA18555,NA18558,NA18559,NA18561,NA18562,NA18563,NA18570,NA18572,NA18573,NA18576,NA18577,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18610,NA18611,NA18612,NA18617,NA18618,NA18619,NA18620,NA18621,NA18626,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18640,NA18642,NA18643,NA18645,NA18670,NA18685,NA18689,NA18694,NA18740,NA18745,NA18748,NA18757,NA18916,NA18939,NA18940,NA18942,NA18943,NA18944,NA18946,NA18947,NA18951,NA18952,NA18953,NA18954,NA18955,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18976,NA18978,NA18987,NA18990,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19002,NA19005,NA19009,NA19010,NA19041,NA19055,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19078,NA19079,NA19080,NA19319,NA19371,NA19381,NA19383,NA19398,NA19399,NA19437,NA19439,NA19625,NA19649,NA19650,NA19652,NA19653,NA19657,NA19658,NA19659,NA19660,NA19661,NA19663,NA19664,NA19665,NA19669,NA19671,NA19676,NA19681,NA19682,NA19683,NA19711,NA19716,NA19718,NA19719,NA19720,NA19721,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19761,NA19762,NA19763,NA19770,NA19773,NA19774,NA19775,NA19776,NA19777,NA19779,NA19780,NA19781,NA19783,NA19788,NA19789,NA19790,NA19794,NA19795,NA19914,NA20127,NA20279,NA20282,NA20357,NA20358,NA20364,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20520,NA20521,NA20527,NA20528,NA20530,NA20531,NA20535,NA20538,NA20540,NA20541,NA20544,NA20581,NA20582,NA20586,NA20753,NA20754,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20771,NA20772,NA20778,NA20783,NA20785,NA20787,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20806,NA20810,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20845,NA20846,NA20847,NA20849,NA20852,NA20853,NA20859,NA20866,NA20869,NA20871,NA20872,NA20876,NA20877,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20891,NA20894,NA20896,NA20898,NA20900,NA20901,NA20903,NA20907,NA20909,NA20910,NA21090,NA21091,NA21092,NA21094,NA21097,NA21099,NA21100,NA21101,NA21105,NA21106,NA21108,NA21109,NA21115,NA21116,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21302,NA21303,NA21317,NA21339,NA21357,NA21359,NA21361,NA21370,NA21379,NA21381,NA21388,NA21389,NA21390,NA21391,NA21402,NA21404,NA21421,NA21424,NA21436,NA21451,NA21453,NA21457,NA21489,NA21490,NA21491,NA21509,NA21523,NA21525,NA21529,NA21574,NA21575,NA21576,NA21578,NA21580,NA21582,NA21596,NA21608,NA21611,NA21614,NA21617,NA21648,NA21683,NA21685,NA21686,NA21716,NA21718,NA21738,NA21784 dgv825n67 3 133190871 133195967 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822256,nsv822258,nsv822257 M 31 0 20 CPNE4 AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18542,NA18552,NA18570,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv7928 3 133190897 133196085 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30369 S 1 0 1 CPNE4 SJK nsv499013 3 133190943 133196075 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585874 S 9 0 1 CPNE4 esv22865 3 133190951 133196089 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11504 S 451 0 10 CPNE4 NA07037,NA11894,NA11931,NA12239,NA12287,NA12414,NA12749,NA12878,NA15510,NA18916 nsv514166 3 133190960 133195920 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627601 S 1414 0 1 CPNE4 nsv437883 3 133194401 133195707 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471389,nssv471384,nssv471391,nssv471395,nssv471386,nssv471387,nssv471394,nssv471393,nssv471385,nssv471388,nssv471396,nssv471392 M 269 0 12 Samples from several populations that are part of the HapMap project. CPNE4 NA07000,NA07034,NA07048,NA07348,NA10830,NA12003,NA12154,NA12763,NA12865,NA12872,NA12874,NA12891 nsv433376 3 133194645 133195707 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463257 S 9 0 1 CPNE4 NA15510 nsv517016 3 133215110 133226177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693785,nssv693721,nssv680538,nssv687821,nssv653621,nssv693211,nssv686780 M 2026 0 7 CPNE4 nsv516375 3 133244800 133255962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676265,nssv667847,nssv681166 M 2026 0 3 "" nsv4011 3 133309845 133343678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3108 S 9 1 0 "" NA18555 esv271920 3 133349608 133349797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504309,essv2493577,essv2507315,essv2509424,essv2512086,essv2501817,essv2498136 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18517,NA18912,NA19129,NA19238,NA19239,NA19240 esv274643 3 133349611 133349822 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579171,essv2579615 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1188147 3 133374462 133374462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169815 S 2 1 0 "" HuRef esv1351581 3 133416936 133416936 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748440 S 2 1 0 "" HuRef esv1790116 3 133417253 133417253 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134703 S 2 1 0 "" HuRef nsv4012 3 133440868 133486786 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4683,nssv329,nssv10361 M 9 0 3 "" NA18956,NA19129,NA19240 nsv508245 3 133453368 133530312 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617482 S 4 0 1 ACPP CHM esv991359 3 133470469 133479865 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564408 S 3 0 1 "" HuRef nsv436382 3 133471299 133478251 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466034 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv820446 3 133471628 133477702 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420342 S 1 0 1 "" NA10851 nsv822259 3 133471628 133477702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421607,nssv1426554,nssv1434996,nssv1429714,nssv1438732,nssv1431225,nssv1433562,nssv1434334,nssv1431972,nssv1440978,nssv1440267,nssv1425041 M 31 0 12 "" AK14,AK18,AK20,AK6,NA18526,NA18564,NA18570,NA18942,NA18968,NA18969,NA18973,NA18997 nsv499014 3 133471781 133477775 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585875 S 9 0 1 "" nsv822260 3 133472095 133476048 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425654 S 31 0 1 "" AK4 esv27251 3 133472275 133477702 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10129 S 451 20 4 "" NA07037,NA11894,NA11931,NA11995,NA12004,NA12156,NA12239,NA12414,NA12828,NA12878,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225 nsv514167 3 133472296 133475904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627602 S 1414 0 1 "" nsv437884 3 133474129 133474674 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471399,nssv471397,nssv471398 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18550,NA18558,NA18633 esv2421486 3 133475463 133478374 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131176,essv5019222,essv5024767,essv5070955,essv5118756,essv5049700,essv5006917,essv5066944,essv5136866,essv5141264,essv5124510,essv5092968,essv5008268,essv5056336,essv5062130,essv5107950,essv5069193,essv5126371,essv5065930,essv5100678,essv5122165,essv5128012,essv5133237,essv5154635,essv5134221,essv5121081,essv5105266,essv5050460,essv5008743,essv5114039,essv5005901,essv5017324,essv5072955,essv5083355,essv5120198,essv5110500,essv5042904,essv5006369,essv5049218,essv5134716,essv5089981,essv5090365,essv5070106,essv5142333,essv5119820,essv5018402,essv5083316,essv5056057,essv5129543,essv5086471,essv5009283,essv5065417,essv5149007,essv5130470,essv5088258,essv5124410,essv5062667,essv5079015,essv5104464,essv5011426,essv5148876,essv5033062,essv5127831,essv5094674,essv5151652,essv5066096,essv5087582,essv5126393,essv5074270,essv5069314,essv5138256,essv5074482,essv5124428,essv5016707,essv5059900,essv5112079,essv5151835,essv5032594,essv5026280,essv5010287,essv5076307,essv5144246,essv5016504,essv5067843,essv5089243,essv5050567,essv5133343,essv5010734,essv5046751,essv5069069,essv5016489,essv5085584,essv5080530,essv5011424,essv5055127,essv5052983,essv5043362,essv5101171,essv5150766,essv5093501,essv5109859,essv5080672,essv5125632,essv5126530,essv5058630,essv5085715,essv5034220,essv5059738,essv5101953,essv5042223,essv5075896,essv5128215,essv5032171,essv5068237,essv5096788,essv5032403,essv5117773,essv5065400,essv5112922,essv5159875,essv5078156,essv5096448,essv5046782,essv5133299,essv5092389,essv5120872,essv5135255,essv5054434,essv5059699,essv5077867,essv5048964,essv5055042,essv5139135,essv5073502,essv5141479,essv5055892,essv5143297,essv5146582,essv5027796,essv5053846,essv5158438,essv5078229,essv5019647,essv5037367,essv5147209,essv5101493,essv5044282,essv5028468,essv5104955,essv5129136,essv5055751,essv5104886,essv5036246,essv5117633,essv5120687,essv5062677,essv5025136,essv5084808,essv5132912,essv5017153,essv5069049,essv5137729,essv5052280,essv5050176,essv5072355,essv5052637,essv5073394,essv5069982,essv5125755,essv5017449,essv5108110,essv5048544,essv5093722,essv5072093,essv5083280,essv5071807,essv5110823,essv5045585,essv5094274,essv5105052,essv5145093,essv5064622,essv5129484,essv5096887,essv5026220,essv5056550,essv5095845,essv5095858,essv5084861,essv5045298,essv5061191,essv5078203,essv5046154,essv5155767,essv5029471,essv5128611,essv5036017,essv5155217,essv5005372,essv5015059,essv5067217,essv5149749,essv5104611,essv5103471,essv5002548,essv5079198,essv5064342,essv5140127,essv5019028,essv5038569,essv5050550,essv5114772,essv5057904,essv5155382,essv5021758,essv5038153,essv5133589,essv5144837,essv5117153,essv5070167,essv5119429,essv5049614,essv5123649,essv5115293,essv5094380,essv5127626,essv5151331,essv5138095,essv5132459,essv5153987,essv5052860,essv5042439,essv5110096,essv5055290,essv5143880,essv5159301,essv5105795,essv5011644,essv5042048,essv5069389,essv5121888,essv5115160,essv5155779,essv5090698,essv5103420,essv5151255,essv5093408,essv5089688,essv5032720,essv5149055,essv5137125,essv5068760,essv5086584,essv5002681,essv5130549,essv5113050,essv5049015,essv5071952,essv5131269,essv5128879,essv5151676,essv5109879,essv5125763,essv5145377,essv5130942,essv5048208,essv5043989,essv5007708,essv5154805,essv5031663,essv5124161,essv5134605,essv5017940,essv5038938,essv5051306,essv5123863,essv5115854,essv5069631,essv5027458,essv5118581,essv5067280,essv5102930,essv5114743,essv5117461,essv5037456,essv5069015,essv5007128,essv5053559,essv5112929,essv5058177,essv5154750,essv5019338,essv5049499,essv5020515,essv5109470,essv5062606,essv5043376,essv5033971,essv5099292,essv5031832,essv5024963,essv5033368,essv5127063,essv5044175,essv5140471,essv5087412,essv5051324,essv5089406,essv5022260,essv5033144,essv5160780,essv5009855,essv5117613,essv5078900,essv5019368,essv5152584,essv5033448,essv5117995,essv5123418,essv5119480,essv5047532,essv5041136,essv5147705,essv5095330,essv5134638,essv5145828,essv5134171,essv5059140,essv5088165,essv5154571,essv5148658,essv5055943,essv5081706,essv5145753,essv5037352,essv5064725,essv5086740,essv5136440,essv5031080,essv5045482,essv5105119,essv5022910,essv5125412,essv5043349,essv5032969,essv5154646,essv5139416,essv5070519,essv5151981,essv5138780,essv5131875,essv5135760,essv5139536,essv5084189,essv5031630,essv5131869,essv5052337,essv5127253,essv5116367,essv5030150,essv5102652,essv5152182,essv5062148,essv5099494,essv5141047,essv5064717,essv5150047,essv5027211,essv5133436,essv5117154,essv5151827,essv5059237,essv5055481,essv5016865,essv5049138 M 1184 0 375 "" NA06985,NA06991,NA06995,NA06997,NA07037,NA07045,NA07051,NA07055,NA07357,NA07435,NA10835,NA10836,NA10838,NA10839,NA10847,NA10850,NA10852,NA10859,NA10861,NA11829,NA11881,NA11882,NA11892,NA11917,NA11930,NA11994,NA12005,NA12056,NA12145,NA12155,NA12239,NA12248,NA12249,NA12273,NA12275,NA12283,NA12287,NA12335,NA12340,NA12342,NA12348,NA12375,NA12376,NA12386,NA12400,NA12489,NA12546,NA12707,NA12708,NA12749,NA12751,NA12752,NA12753,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12778,NA12802,NA12812,NA12813,NA12814,NA12832,NA12842,NA12864,NA12872,NA12873,NA12877,NA12890,NA12892,NA17962,NA17966,NA17990,NA18107,NA18108,NA18112,NA18114,NA18117,NA18122,NA18124,NA18127,NA18128,NA18129,NA18136,NA18143,NA18150,NA18151,NA18152,NA18153,NA18155,NA18156,NA18159,NA18486,NA18499,NA18505,NA18515,NA18519,NA18526,NA18544,NA18548,NA18550,NA18558,NA18559,NA18563,NA18564,NA18570,NA18572,NA18597,NA18609,NA18610,NA18615,NA18618,NA18619,NA18628,NA18632,NA18633,NA18635,NA18637,NA18645,NA18670,NA18682,NA18685,NA18689,NA18694,NA18740,NA18912,NA18913,NA18914,NA18916,NA18917,NA18930,NA18939,NA18940,NA18942,NA18943,NA18946,NA18948,NA18953,NA18956,NA18960,NA18961,NA18964,NA18967,NA18968,NA18969,NA18971,NA18973,NA18993,NA18995,NA18997,NA19000,NA19002,NA19005,NA19010,NA19038,NA19055,NA19057,NA19063,NA19064,NA19066,NA19067,NA19074,NA19075,NA19079,NA19083,NA19087,NA19101,NA19102,NA19103,NA19118,NA19127,NA19128,NA19129,NA19147,NA19160,NA19176,NA19181,NA19183,NA19198,NA19200,NA19201,NA19202,NA19206,NA19214,NA19238,NA19240,NA19310,NA19318,NA19327,NA19328,NA19352,NA19373,NA19403,NA19404,NA19428,NA19440,NA19443,NA19444,NA19451,NA19456,NA19462,NA19463,NA19472,NA19474,NA19649,NA19650,NA19654,NA19657,NA19658,NA19659,NA19661,NA19662,NA19664,NA19669,NA19670,NA19671,NA19675,NA19679,NA19680,NA19681,NA19682,NA19683,NA19685,NA19700,NA19712,NA19720,NA19724,NA19725,NA19726,NA19727,NA19747,NA19748,NA19750,NA19751,NA19755,NA19759,NA19761,NA19763,NA19773,NA19776,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19908,NA19919,NA19921,NA20127,NA20128,NA20129,NA20294,NA20297,NA20300,NA20332,NA20333,NA20334,NA20335,NA20336,NA20340,NA20341,NA20347,NA20363,NA20364,NA20504,NA20505,NA20509,NA20517,NA20518,NA20519,NA20520,NA20524,NA20527,NA20534,NA20538,NA20581,NA20582,NA20586,NA20752,NA20755,NA20756,NA20759,NA20768,NA20772,NA20773,NA20786,NA20790,NA20795,NA20796,NA20797,NA20809,NA20810,NA20812,NA20816,NA20826,NA20845,NA20847,NA20854,NA20866,NA20872,NA20873,NA20875,NA20884,NA20885,NA20888,NA20890,NA20894,NA20895,NA20898,NA20906,NA20908,NA20909,NA20910,NA20911,NA21090,NA21091,NA21098,NA21099,NA21101,NA21102,NA21104,NA21109,NA21111,NA21113,NA21115,NA21119,NA21141,NA21144,NA21357,NA21362,NA21368,NA21370,NA21378,NA21435,NA21438,NA21440,NA21457,NA21475,NA21477,NA21478,NA21488,NA21490,NA21493,NA21494,NA21526,NA21527,NA21583,NA21608,NA21614,NA21615,NA21619,NA21631,NA21635,NA21647,NA21648,NA21686,NA21722,NA21723,NA21733,NA21768,NA21784,NA21825 nsv442876 3 133475463 133478374 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv829728 3 133561251 133765312 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443084 S 95 1 0 ACAD11,ACPP,DNAJC13,NPHP3-ACAD11 nsv522333 3 133632873 133643403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695113 S 2026 0 1 DNAJC13 nsv4013 3 133681165 133726258 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7868 S 9 0 1 DNAJC13 NA12156 nsv4014 3 133870452 133905731 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3198 S 9 1 0 NPHP3,NPHP3-ACAD11,UBA5 NA12878 nsv517045 3 133929026 133929794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676154,nssv653682 M 2026 0 2 NPHP3-AS1 esv25640 3 134003980 134004452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16882 S 451 0 1 NPHP3-AS1 NA12004 nsv460856 3 134021142 134136035 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537348 S 1557 1 0 NPHP3-AS1 1780854159_A nsv877501 3 134025653 134088718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554519 S 6533 0 1 NPHP3-AS1 MS20850 esv273442 3 134060376 134060606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580778,essv2579283 M 7 2 0 Samples from several populations that are part of the HapMap project. NPHP3-AS1 NA19238,NA19239 esv268475 3 134060383 134060506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495477,essv2494322,essv2506224,essv2509466,essv2497696,essv2510475,essv2511956,essv2495012,essv2513063 M 157 9 0 Samples from several populations that are part of the HapMap project. NPHP3-AS1 NA07051,NA10847,NA11919,NA18502,NA18523,NA19129,NA19147,NA19172,NA19238 esv27301 3 134080540 134081425 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10694 S 451 0 2 "" NA18508,NA19099 nsv524179 3 134126099 134128946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700061 S 2026 0 1 "" esv1562614 3 134137156 134137156 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930857 S 2 1 0 "" HuRef esv1384553 3 134137156 134137208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204190 S 2 0 1 "" HuRef nsv877502 3 134173647 134225512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504547 S 6533 0 1 "" SP52588 nsv4015 3 134193836 134210755 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv330 S 9 0 1 "" NA19240 esv2547591 3 134200764 134207433 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281725 S 1 0 1 "" NA18507 nsv499015 3 134201294 134206614 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585876 S 9 0 1 "" esv32760 3 134282173 134282417 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98771 S 51 0 1 TMEM108 21606 esv2635909 3 134331133 134332032 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226392 S 1 1 0 TMEM108 NA18507 esv9637 3 134450000 134450092 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32078 S 1 1 0 TMEM108 SJK nsv4016 3 134498153 134515167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4684 S 9 0 1 TMEM108 NA19129 esv28544 3 134498790 134508672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12956 S 451 0 1 TMEM108 NA19129 nsv514168 3 134499216 134505856 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627604 S 1414 0 0 TMEM108 dgv1510e1 3 134503640 134515582 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11330,essv14905,esv1225 M 271 0 0 TMEM108 NA19128,NA19129 nsv877503 3 134518464 134587321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548670 S 6533 1 0 TMEM108 MS17878 nsv460857 3 134584080 134604906 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537349 S 1557 0 1 BFSP2,TMEM108 NINDS_88 nsv877504 3 134604906 134655064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534687 S 6533 0 1 BFSP2 MS11726 nsv509853 3 134607916 134613916 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618586 S 4 0 1 BFSP2 CHM esv25562 3 134614694 134619762 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16435 S 451 1 2 BFSP2 NA06985,NA12828,NA19108 esv1102121 3 134616272 134616272 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968713 S 2 1 0 BFSP2 HuRef nsv522281 3 134620124 134650053 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695064 S 2026 1 0 BFSP2 nsv819235 3 134620684 134622835 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419395 S 2 1 0 BFSP2 AK1 nsv822261 3 134620721 134623431 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440979 S 31 1 0 BFSP2 NA18969 nsv819448 3 134628143 134648275 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418683 S 2 0 1 BFSP2 AK1 nsv877505 3 134650053 134717962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528680 S 6533 1 0 BFSP2 SP81347 nsv237800 3 134660720 134668211 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256378 M 24 BFSP2 nsv4017 3 134691994 134726048 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3199 S 9 1 0 "" NA12878 esv27719 3 134775409 134776360 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10255 S 451 0 1 CDV3 NA07045 nsv516081 3 134882392 134894784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666081,nssv693380 M 2026 0 2 "" nsv877506 3 134906163 135052467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548671 S 6533 1 0 RAB6B,SRPRB,TF MS17878 nsv528713 3 134920468 134933061 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705363 S 2026 0 1 "" nsv829729 3 134927561 135103077 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443086 S 95 0 1 RAB6B,SRPRB,TF nsv877507 3 134947891 134956206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499065 S 6533 0 1 TF SP50159 nsv877508 3 134959542 134965352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506579 S 6533 0 1 TF SP54381 nsv4018 3 134968557 135013358 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7869 S 9 0 1 SRPRB,TF NA12156 esv1005045 3 134984281 134993663 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563525 S 3 0 1 SRPRB HuRef nsv513074 3 134985898 134988128 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626560 S 1 0 1 SRPRB 1 esv3892 3 134986348 134987906 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26333 S 1 0 1 Single Asian sample YH SRPRB YH esv8734 3 134986356 134987837 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31175 S 1 0 1 SRPRB SJK esv989994 3 134986458 134987773 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579451 S 3 0 1 SRPRB HuRef esv1301210 3 134986472 134987788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105075 S 2 0 1 SRPRB HuRef esv2473994 3 135121237 135122741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199521 S 1 0 1 "" NA18507 esv2222789 3 135169177 135169638 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712118 S 1 0 1 SLCO2A1 NA18507 esv1546500 3 135169374 135169474 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017234 S 2 0 1 SLCO2A1 HuRef nsv527655 3 135170554 135178975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704126 S 2026 0 1 SLCO2A1 nsv877509 3 135184650 135238792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548672 S 6533 1 0 SLCO2A1 MS17878 esv23490 3 135451976 135452596 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16528 S 451 0 1 RYK NA07045 esv27721 3 135526117 135527203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15877 S 451 0 1 "" NA18505 nsv877510 3 135608840 135883138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548673 S 6533 1 0 ANAPC13,CEP63,KY,MIR4788 MS17878 nsv527126 3 135624783 135626609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703511 S 2026 0 1 "" dgv5259n71 3 135656761 135862442 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877512,nsv877514,nsv877513,nsv877511 M 6533 0 6 ANAPC13,CEP63,KY IS34797,IS35789,IS41862,MS19226,MS19630,MS22898 nsv460858 3 135674628 135678575 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537350 S 1557 0 1 "" NINDS_166 nsv829730 3 135681787 135842234 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443087 S 95 0 1 ANAPC13,CEP63,KY esv33705 3 135683724 135693437 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99989 S 51 0 1 ANAPC13,CEP63 22086 esv2081970 3 135782341 135782760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504237 S 1 0 1 "" NA18507 nsv520371 3 135827384 135834414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680398,nssv663306 M 2026 0 2 KY nsv4019 3 135873914 135901359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2416 S 9 1 0 "" NA18555 nsv528307 3 135913864 135916456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704885 S 2026 0 1 "" nsv877515 3 135943058 136073828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548674 S 6533 1 0 EPHB1 MS17878 nsv518817 3 135960798 135968770 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696270 S 2026 1 0 "" nsv508956 3 136010520 136024294 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623386 S 4 1 0 EPHB1 NA18994 nsv822262 3 136106039 136111328 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428179 S 31 0 1 EPHB1 AK10 nsv460859 3 136109029 136128400 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537351 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EPHB1 HGDP00894 esv29010 3 136129778 136131298 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10631 S 451 1 0 EPHB1 NA12156 nsv513075 3 136154466 136157373 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626561 S 1 0 1 EPHB1 1 esv2490314 3 136156080 136158073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212174 S 1 0 1 EPHB1 NA18507 esv2309200 3 136156424 136157444 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606060 S 1 0 1 EPHB1 NA18507 esv991539 3 136156595 136157247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581027 S 3 0 1 EPHB1 HuRef nsv877516 3 136172110 136401212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548675 S 6533 1 0 EPHB1 MS17878 nsv877517 3 136192641 136288271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540638 S 6533 0 1 EPHB1 MS14942 nsv829731 3 136194403 136367754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443088 S 95 0 1 EPHB1 nsv818168 3 136216206 136219361 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417301 S 112 0 1 EPHB1 NA18608 nsv436394 3 136276794 136282261 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466035 S 2 0 1 Samples from several populations that are part of the HapMap project. EPHB1 NA18505 nsv520932 3 136292067 136304089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697695 S 2026 0 1 EPHB1 esv22232 3 136325280 136327085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13857 S 451 0 1 EPHB1 NA18861 esv2421444 3 136325315 136327533 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095962,essv5073579,essv5107253,essv5022383,essv5122031,essv5016652,essv5120292,essv5058953,essv5017908,essv5154181,essv5066109,essv5025025,essv5144168,essv5043574,essv5072173,essv5027130,essv5050617,essv5154553,essv5102378,essv5058392,essv5156454,essv5060753,essv5073562,essv5018449,essv5132091,essv5137734,essv5144818,essv5095016,essv5018315,essv5073538,essv5154710,essv5091234,essv5008019,essv5098788,essv5004913,essv5003345,essv5107959,essv5147323,essv5075298,essv5124537,essv5120156,essv5129311,essv5141992,essv5010226,essv5152133,essv5109083,essv5020788,essv5127902,essv5033348,essv5151315,essv5028320,essv5026894,essv5145245,essv5045246,essv5025195,essv5042721 M 1184 0 56 EPHB1 NA18515,NA18516,NA18861,NA18874,NA18875,NA18934,NA18935,NA19095,NA19097,NA19118,NA19127,NA19146,NA19150,NA19151,NA19171,NA19197,NA19203,NA19210,NA19211,NA19221,NA19222,NA19226,NA19256,NA19258,NA19313,NA19314,NA19319,NA19324,NA19352,NA19377,NA19381,NA19394,NA19403,NA19428,NA19431,NA19439,NA19445,NA19457,NA19904,NA19916,NA20360,NA21295,NA21301,NA21307,NA21344,NA21353,NA21359,NA21364,NA21366,NA21489,NA21510,NA21573,NA21620,NA21632,NA21686,NA21719 nsv441840 3 136325315 136327533 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EPHB1 nsv519871 3 136325355 136325976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689042,nssv661416,nssv659203,nssv676993,nssv689766,nssv681126 M 2026 0 6 EPHB1 nsv514169 3 136326176 136327424 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627605 S 1414 0 1 EPHB1 nsv4020 3 136332779 136365333 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7035 S 9 1 0 EPHB1 NA12156 esv271250 3 136563620 136563984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501402,essv2499069 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19114 nsv528223 3 136590368 136591862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704784 S 2026 0 1 "" nsv460860 3 136590368 137251696 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537352 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPP2R3A HGDP00761 nsv527433 3 136704194 136707939 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703872 S 2026 0 1 "" nsv518089 3 136704194 136715684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695502 S 2026 0 1 "" esv274891 3 136740535 136744822 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585908 S 1250 0 1 "" esv2261145 3 136771941 136772399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865396 S 1 0 1 "" NA18507 esv2543430 3 136772120 136772206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387602 S 1 0 1 "" NA18507 nsv524122 3 136828183 136940643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700000 S 2026 0 1 "" esv29633 3 136854613 136856150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19330 S 451 0 1 "" NA18508 nsv515820 3 136875230 136940643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664876,nssv668817,nssv656574,nssv678123,nssv658995,nssv655970,nssv686781,nssv691160,nssv680017,nssv679173,nssv674126,nssv658541,nssv656546,nssv684624,nssv661764,nssv677027,nssv654629,nssv693764,nssv679979 M 2026 0 19 "" esv269704 3 136883003 136883353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512516,essv2495643,essv2499141 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18916,NA19114 esv270726 3 137035244 137038332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507740,essv2505215,essv2504356 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12751,NA18853 nsv829732 3 137044396 137239530 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443089 S 95 1 0 PPP2R3A nsv4022 3 137147466 137151509 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10363 S 9 1 0 "" NA18956 esv2421767 3 137180063 137182567 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109081,essv5064418,essv5036613,essv5048646,essv5144661,essv5012552,essv5063961,essv5030609,essv5132976,essv5113773,essv5062608,essv5024333,essv5076663,essv5158537,essv5022703,essv5076468,essv5158364,essv5046806,essv5116428,essv5049401,essv5090477,essv5137689,essv5018142,essv5075517,essv5136512,essv5036708,essv5146327,essv5141514,essv5052942,essv5083519,essv5139666,essv5013287 M 1184 0 32 PPP2R3A NA18485,NA18862,NA18863,NA18924,NA18925,NA19107,NA19109,NA19122,NA19181,NA19183,NA19189,NA19192,NA19214,NA19221,NA19222,NA19247,NA19249,NA19319,NA19381,NA19394,NA19403,NA19429,NA19438,NA19452,NA19468,NA19711,NA20287,NA20288,NA20290,NA20333,NA20350,NA21382 nsv4023 3 137254888 137299325 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4667 S 9 0 1 PPP2R3A NA19129 nsv877518 3 137344356 137368244 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500971 S 6533 0 1 MSL2,PPP2R3A SP50725 nsv4024 3 137347597 137360376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv331 S 9 1 0 MSL2,PPP2R3A NA19240 nsv508246 3 137404713 137521312 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618720,nssv622469 M 4 0 2 PCCB NA10860,NA18994 nsv237910 3 137465994 137469619 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256488 M 24 PCCB nsv4025 3 137500148 137548312 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7037,nssv3200,nssv2417 M 9 0 3 PCCB,STAG1 NA12156,NA12878,NA18555 esv1521994 3 137501169 137501289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732016 S 2 0 1 PCCB HuRef nsv821587 3 137503278 137509624 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420343 S 1 0 1 PCCB NA10851 esv22097 3 137503463 137508985 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10946,esv12453 M 451 22 4 PCCB NA06985,NA11894,NA11993,NA12006,NA12156,NA12287,NA12489,NA12776,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 dgv37n50 3 137503665 137510459 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511202,nsv513076 M 1 0 1 PCCB 1 esv9585 3 137503694 137508890 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32026 S 1 0 1 PCCB SJK esv1003652 3 137503735 137508888 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586318 S 3 1 0 PCCB HuRef nsv514170 3 137503984 137508752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627606 S 1414 0 1 PCCB nsv877519 3 137518427 137762080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566147 S 6533 0 1 PCCB,STAG1 IS30597 dgv5260n71 3 137539551 137793675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877520,nsv877523,nsv877524,nsv877521,nsv877525 M 6533 0 9 STAG1 IS33196,IS34407,IS34896,IS36527,IS38235,IS40067,IS40368,IS40819,MS10227 nsv877522 3 137570728 137723718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566989 S 6533 0 1 STAG1 IS31041 nsv520012 3 137570728 137796809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660078,nssv682203 M 2026 0 2 STAG1 nsv238089 3 137580692 137588585 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256667 M 24 STAG1 dgv5261n71 3 137631829 137793675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877527,nsv877526 M 6533 0 2 STAG1 IS31166,IS41319 nsv877528 3 137692240 137777973 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575901 S 6533 0 1 STAG1 IS33839 nsv460861 3 137705644 137908290 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537353 S 1557 0 1 STAG1 1780862484_A nsv4026 3 137705674 137737486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10364 S 9 1 0 STAG1 NA18956 esv271014 3 137721906 137722188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514910 S 157 1 0 Samples from several populations that are part of the HapMap project. STAG1 NA12812 nsv877529 3 137847201 137970249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547218 S 6533 1 0 STAG1 MS17235 esv1010377 3 137884848 137890377 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564865 S 3 0 1 STAG1 HuRef esv1391168 3 137916496 137916554 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885693 S 2 0 1 STAG1 HuRef esv33758 3 137963435 137975084 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100743,essv100060 M 51 0 2 "" 21656,22086 esv268028 3 137964505 137964799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504015 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv33116 3 137980016 137980387 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99239 S 51 1 0 "" 22275 nsv877530 3 137997000 138087387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547219 S 6533 1 0 NCK1,TMEM22 MS17235 dgv5262n71 3 137999706 138145644 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877531,nsv877533,nsv877532 M 6533 0 3 NCK1,TMEM22 IS38637,MS24073,SP55671 nsv4027 3 138008949 138032971 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9629 S 9 1 0 TMEM22 NA18507 nsv507125 3 138019932 138025932 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620228,nssv621722,nssv622871 M 4 3 0 TMEM22 NA10860,NA15510,NA18994 nsv877534 3 138158993 138248549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578853 S 6533 0 1 IL20RB IS34954 nsv524856 3 138176149 138673455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700859 S 2026 0 1 IL20RB nsv4028 3 138234738 138260043 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7038 S 9 0 1 "" NA12156 nsv829733 3 138303176 138428905 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443090 S 95 1 0 "" nsv4029 3 138390651 138428057 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7870 S 9 0 1 "" NA12156 nsv508247 3 138397938 138494349 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618721,nssv622470 M 4 0 2 "" NA10860,NA18994 esv8231 3 138485933 138486009 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30672 S 1 1 0 "" SJK nsv236231 3 138485946 138485946 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254809 M 24 "" esv995191 3 138485947 138485947 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573456 S 3 1 0 "" HuRef esv1178864 3 138485948 138485948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341015 S 2 1 0 "" HuRef nsv437341 3 138498177 138522523 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467222 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19103 nsv10326 3 138510027 138586548 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12177 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2421685 3 138510648 138525910 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015284,essv5142012,essv5032957,essv5096273,essv5024655,essv5138841,essv5155603,essv5132886,essv5132760,essv5030490,essv5047764,essv5080218,essv5159457,essv5134490 M 1184 0 14 "" NA12761,NA18912,NA18934,NA18935,NA19102,NA19103,NA19107,NA19109,NA19116,NA19118,NA19131,NA19132,NA19239,NA20335 nsv441841 3 138510648 138525910 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv437885 3 138512873 138514443 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471400,nssv471402 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19102,NA19103 nsv514171 3 138514016 138524960 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627607 S 1414 0 1 "" esv33216 3 138514038 138522569 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101641 S 51 0 1 "" 21909 nsv428422 3 138545879 139888316 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454280,nssv454279,nssv454281 M 62 1 2 A4GNT,ARMC8,CEP70,CLDN18,DBR1,DZIP1L,ESYT3,FAIM,MRAS,NME9,PIK3CB,SOX14 HGDP00449,HGDP00474,HGDP01094 esv1006439 3 138551699 138560616 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565700 S 3 0 1 "" HuRef nsv513077 3 138554399 138556245 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626563 S 1 0 1 "" 1 esv2429330 3 138554509 138556880 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176588 S 1 0 1 "" NA18507 esv2407510 3 138554871 138556339 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509137 S 1 0 1 "" NA18507 esv991370 3 138555055 138556139 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576750 S 3 0 1 "" HuRef esv1759621 3 138555056 138556141 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284684 S 2 0 1 "" HuRef esv8103 3 138555059 138556134 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30544 S 1 0 1 "" SJK nsv829734 3 138644331 138800375 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443091 S 95 0 1 "" nsv829735 3 138728552 138901606 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443092 S 95 0 1 "" esv26107 3 138868353 138869428 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19984 S 451 1 0 "" NA19257 esv2614697 3 138980390 138980462 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162042 S 1 0 1 "" NA18507 nsv877535 3 139003894 139259229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548676 S 6533 1 0 CLDN18 MS17878 esv273267 3 139047876 139048392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580520,essv2578974,essv2579727 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271145 3 139048059 139048382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548543,essv2565464,essv2576295,essv2540015,essv2520846,essv2557177,essv2569274,essv2578864,essv2536875,essv2538923,essv2527276,essv2561598,essv2569124,essv2556203,essv2527954,essv2575294,essv2526349,essv2560639,essv2574877,essv2568581,essv2571382,essv2551405,essv2537910,essv2525007,essv2563205 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA10847,NA12045,NA12812,NA12814,NA18489,NA18498,NA18501,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18861,NA18871,NA18907,NA19102,NA19114,NA19116,NA19138,NA19147,NA19238,NA19257 esv1007646 3 139048074 139048074 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579141 S 3 1 0 "" HuRef esv1691038 3 139048086 139048086 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761238 S 2 1 0 "" HuRef nsv10327 3 139090969 139127626 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12900 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv1511e1 3 139094479 139416525 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7121,essv4766,essv18747,essv12776,essv4220,esv498,essv19388,essv20910,essv152,essv6319 M 271 0 0 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L NA11840,NA12801,NA12874,NA18537,NA18603,NA18609,NA18620,NA18968,NA19120 nsv460863 3 139166447 139223829 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537355 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CLDN18 HGDP01266 esv2751978 3 139197992 139373440 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989241,essv6981468,essv6987963 M 771 0 1 A4GNT,CLDN18,DBR1,DZIP1L BEC_236 nsv528340 3 139219159 139221620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704922 S 2026 1 0 CLDN18 dgv1512e1 3 139230541 139416525 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22152,essv18370,essv18603,essv22648,essv22424,essv5310 M 271 0 0 A4GNT,ARMC8,CLDN18,DBR1,DZIP1L NA10857,NA10861,NA12234,NA12249,NA12752,NA18563 esv1348624 3 139252447 139252652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602406 S 2 0 1 "" HuRef dgv298n21 3 139265345 139283903 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522591,nsv519971 M 2026 2 0 DZIP1L nsv10329 3 139286033 139289806 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29005,nssv28668,nssv28909,nssv12163,nssv11909,nssv11641,nssv12192,nssv28877,nssv11574 M 31 9 0 Samples from several populations that are part of the HapMap project. DZIP1L NA18502,NA18504,NA18572,NA18853,NA18942,NA18975,NA19144,NA19173,NA19240 nsv10330 3 139315489 139317288 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11619,nssv12284 M 31 2 0 Samples from several populations that are part of the HapMap project. DZIP1L NA12740,NA18517 nsv877536 3 139353213 139453597 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548677 S 6533 1 0 ARMC8,DBR1 MS17878 nsv4030 3 139428398 139463438 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3201 S 9 1 0 ARMC8,NME9 NA12878 nsv877537 3 139461697 139697804 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588740 S 6533 1 0 ARMC8,CEP70,ESYT3,MRAS,NME9 IS38239 nsv822263 3 139462508 139463891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437357 S 31 0 1 ARMC8,NME9 NA18949 nsv822264 3 139463151 139463816 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423300 S 31 0 1 ARMC8,NME9 NA18999 nsv528349 3 139508086 139615083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704933 S 2026 0 1 MRAS,NME9 nsv526089 3 139589388 139605471 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702335 S 2026 1 0 MRAS esv259973 3 139653310 139653693 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397850,essv2399275,essv2395006,essv2396528,essv2396127,essv2401012,essv2398695 M 144 0 0 Samples from several populations that are part of the HapMap project. ESYT3 NA18505,NA18508,NA18511,NA18517,NA18523,NA19099,NA19190 nsv522517 3 139657213 139780672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705886 S 2026 0 1 CEP70,ESYT3 nsv877538 3 139701399 139793891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499746 S 6533 0 1 CEP70 SP50649 nsv877539 3 139706910 139743978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513925 S 6533 0 1 CEP70 SP55878 esv271132 3 139886482 139886567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519109 S 157 1 0 Samples from several populations that are part of the HapMap project. PIK3CB NA19141 esv269442 3 139926711 139926796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519073 S 157 1 0 Samples from several populations that are part of the HapMap project. PIK3CB NA19141 esv2571713 3 139956983 139958569 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350929 S 1 0 1 PIK3CB NA18507 nsv4031 3 140026897 140062201 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3202 S 9 1 0 "" NA12878 esv1592689 3 140049619 140049619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957774 S 2 1 0 "" HuRef dgv5263n71 3 140127703 140156612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877540,nsv877541 M 6533 0 2 C3orf72,FOXL2 SP54956,SP54988 nsv877542 3 140127703 140233594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546537 S 6533 0 1 C3orf72,FOXL2,PRR23A,PRR23B MS17208 nsv829736 3 140220042 140417448 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443093 S 95 1 0 BPESC1,PRR23B,PRR23C nsv236739 3 140223129 140223355 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255317 M 24 "" esv1587056 3 140317370 140317370 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768714 S 2 1 0 BPESC1 HuRef esv23655 3 140486519 140488054 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11564 S 451 0 1 "" NA18508 nsv877543 3 140503829 140809951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517508 S 6533 1 0 COPB2,MRPS22,NMNAT3,RBP1,RBP2 SP57297 nsv508957 3 140506802 140534156 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618021 S 4 1 0 "" CHM nsv4033 3 140508720 140510565 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv332 S 9 1 0 "" NA19240 nsv4034 3 140517666 140562823 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7872 S 9 0 1 COPB2,MRPS22 NA12156 nsv4035 3 140523212 140557062 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2418,nssv333 M 9 2 0 MRPS22 NA18555,NA19240 esv267872 3 140527094 140527179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518186,essv2515933,essv2518268 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12873,NA19240 esv272407 3 140527094 140527179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581126 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv460865 3 140893721 140938016 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537356 S 1557 0 1 "" 1780862202_A esv2052258 3 140908349 140908809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630491 S 1 0 1 "" NA18507 esv275090 3 141012575 141019171 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586176 S 1250 0 1 "" nsv519354 3 141101759 141104214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692405,nssv701440,nssv674986,nssv693858,nssv655610 M 2026 0 5 "" nsv877544 3 141125262 141171105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552680 S 6533 0 1 CLSTN2 MS19584 nsv520875 3 141131016 141132353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694405 S 2026 0 1 "" esv29420 3 141136438 141136997 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17722 S 451 0 1 CLSTN2 NA07045 nsv829738 3 141153526 141334635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443094 S 95 1 0 CLSTN2 esv2498948 3 141156573 141157661 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305101 S 1 1 0 CLSTN2 NA18507 nsv236799 3 141156668 141156668 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255377 M 24 CLSTN2 esv1072371 3 141157144 141157144 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109335 S 2 1 0 CLSTN2 HuRef nsv236382 3 141157145 141157145 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254960 M 24 CLSTN2 esv1009174 3 141182379 141183555 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586167 S 3 0 1 CLSTN2 HuRef esv21980 3 141182379 141184019 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10319,esv18154 M 451 24 0 CLSTN2 NA07045,NA11894,NA11995,NA12004,NA12414,NA12489,NA12828,NA18502,NA18505,NA18508,NA18517,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv520404 3 141182501 141182662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693605,nssv672446,nssv663782 M 2026 0 3 CLSTN2 esv270693 3 141206328 141206413 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519017 S 157 1 0 Samples from several populations that are part of the HapMap project. CLSTN2 NA19141 nsv4036 3 141214450 141221534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7873 S 9 1 0 CLSTN2 NA12156 nsv877545 3 141221335 141304000 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548678 S 6533 1 0 CLSTN2 MS17878 nsv829739 3 141280186 141485375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443095 S 95 1 0 CLSTN2 nsv509854 3 141364619 141370619 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623920 S 4 0 1 CLSTN2 NA18994 esv22085 3 141406296 141407356 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18274 S 451 1 0 CLSTN2 NA12156 dgv1513e1 3 141408454 142007420 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv672,essv23766,essv18357 M 271 0 0 CLSTN2,TRIM42 NA11994 nsv829740 3 141408457 141588859 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443098,nssv1443097 M 95 1 1 CLSTN2 nsv527831 3 141415656 142016513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704327 S 2026 1 0 CLSTN2,TRIM42 nsv460867 3 141489984 141663253 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537357 S 1557 1 0 CLSTN2 1780862001_A esv34489 3 141491710 141951992 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990255,essv6978574,essv6978573,essv6978572,essv6978571,essv6978570,essv6986643,essv6986644,essv6986645 M 771 1 0 CLSTN2,TRIM42 NA11994 nsv818169 3 141497453 141664736 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415889 S 112 1 0 CLSTN2 NA11994 nsv4037 3 141503198 141515356 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7874 S 9 0 1 CLSTN2 NA12156 nsv829741 3 141503753 141665984 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443099 S 95 0 1 CLSTN2 esv2284794 3 141691393 141691844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562702 S 1 0 1 CLSTN2 NA18507 nsv236797 3 141691546 141691621 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255375 M 24 CLSTN2 essv19147 3 141744377 141764774 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CLSTN2 NA12812 nsv10331 3 141749712 141753720 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12171,nssv29002,nssv28962,nssv29093 M 31 0 4 Samples from several populations that are part of the HapMap project. CLSTN2 NA18537,NA18860,NA18980,NA19007 esv2455650 3 141749931 141752818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239923 S 1 0 1 CLSTN2 NA18507 esv29912 3 141750193 141753596 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19531 S 451 0 4 CLSTN2 NA15510,NA18502,NA18858,NA19129 nsv513078 3 141750197 141753576 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626564 S 1 0 1 CLSTN2 1 esv1479020 3 141750737 141752150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692596 S 2 0 1 CLSTN2 HuRef nsv877546 3 141782293 141951060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526826 S 6533 1 0 TRIM42 SP57865 nsv822266 3 141796851 141797875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431973 S 31 0 1 "" AK20 nsv460869 3 141812798 141933345 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537358 S 1557 1 0 TRIM42 1780862001_A nsv818170 3 141812798 141937526 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415890 S 112 1 0 TRIM42 NA11994 nsv829742 3 141816735 141839795 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443100 S 95 0 1 "" nsv877547 3 141849638 142057977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548679 S 6533 1 0 TRIM42 MS17878 nsv829743 3 141866936 142042468 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443101 S 95 0 1 TRIM42 esv1190615 3 141917236 141917288 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588979 S 2 0 1 "" HuRef dgv5264n71 3 141996712 142073322 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877549,nsv877548 M 6533 0 2 "" MS16376,MS18276 esv273565 3 142007085 142007424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580812 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271220 3 142007096 142007422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546324,essv2542391,essv2536770,essv2522865,essv2543877,essv2570985,essv2545296,essv2523476,essv2577468,essv2570631,essv2535214,essv2554010,essv2547559,essv2564465,essv2553565,essv2520067,essv2537472,essv2528571,essv2552416,essv2565022,essv2559902,essv2522041,essv2553326,essv2562452,essv2555609,essv2566600,essv2556004,essv2534361,essv2522646,essv2572111,essv2551422,essv2532951,essv2554617,essv2547960 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA11881,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12043,NA12044,NA12249,NA12287,NA12717,NA12751,NA12763,NA12815,NA12878,NA12891,NA18502,NA18558,NA18570,NA18571,NA18605,NA18909,NA18945,NA18948,NA18956,NA18959,NA18960,NA18973,NA19257 nsv4038 3 142019651 142062184 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2419 S 9 0 1 "" NA18555 esv2486016 3 142026556 142030567 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199409 S 1 0 1 "" NA18507 nsv511218 3 142026747 142031571 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626754 S 1 0 1 "" 1 nsv513079 3 142026776 142029753 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626566 S 1 0 1 "" 1 nsv819935 3 142026825 142030557 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419574 S 2 0 1 "" AK1 esv2362639 3 142026894 142029926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865214 S 1 0 1 "" NA18507 esv4783 3 142027038 142029857 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27224 S 1 0 1 Single Asian sample YH "" YH nsv499016 3 142027093 142029738 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585877 S 9 0 1 "" dgv110e180 3 142027093 142029739 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991848,esv996004 M 3 1 0 "" HuRef dgv826n67 3 142027093 142029829 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822268,nsv822267,nsv822269 M 31 0 27 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18973,NA18997,NA18999 nsv820468 3 142027093 142029829 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420344 S 1 0 1 "" NA10851 nsv236365 3 142027099 142029737 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254943 M 24 "" esv27254 3 142027117 142029739 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17408 S 451 22 4 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 nsv514172 3 142027232 142029504 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627608 S 1414 0 1 "" esv2421532 3 142028284 142029696 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5128620,essv5090941,essv5069207,essv5067384,essv5046055,essv5007331,essv5060761,essv5120745,essv5061278,essv5003705,essv5072836,essv5034238,essv5085184,essv5102148,essv5016085,essv5110352,essv5146238,essv5064205,essv5010979,essv5067553,essv5085908,essv5032030,essv5074009,essv5085248,essv5050349,essv5153171,essv5014175,essv5026237,essv5125227,essv5099123,essv5158571,essv5123316,essv5107456,essv5156913,essv5083422,essv5079628,essv5050175,essv5100986,essv5076317,essv5023797,essv5044861,essv5125740,essv5010201,essv5073873,essv5056150,essv5026462,essv5119317,essv5094716,essv5120963,essv5091824,essv5157001,essv5103024,essv5095090,essv5093917,essv5040167,essv5108462,essv5128816,essv5140378,essv5047940,essv5159782,essv5083126,essv5140852,essv5106764,essv5005502,essv5139441,essv5114406,essv5032232,essv5007905,essv5029832,essv5153650,essv5026132,essv5083488,essv5057773,essv5083334,essv5035884,essv5070235,essv5104278,essv5072806,essv5076673,essv5155273,essv5029660,essv5016620,essv5003602,essv5060855,essv5035672,essv5101271,essv5099786,essv5065900,essv5132240,essv5144182,essv5061819,essv5034023,essv5032948,essv5111679,essv5047776,essv5008979,essv5092334,essv5101004,essv5092745,essv5015120,essv5150738,essv5098332,essv5021522,essv5104241,essv5152229,essv5093964,essv5018979,essv5127809,essv5008037,essv5128859,essv5102196,essv5083636,essv5027842,essv5124917,essv5119274,essv5116999,essv5068585,essv5089489,essv5098916,essv5014529,essv5037378,essv5048693,essv5039899,essv5131569,essv5113731,essv5080746,essv5017957,essv5015590,essv5041230,essv5050303,essv5078624,essv5149034,essv5157954,essv5080463,essv5064323,essv5048009,essv5035778,essv5057428,essv5106386,essv5016810,essv5117347,essv5103127,essv5062096,essv5159656,essv5160053,essv5080276,essv5016782,essv5107272,essv5096924,essv5159743,essv5084530,essv5105552,essv5038647,essv5080837,essv5088400,essv5007428,essv5086973,essv5142912,essv5038210,essv5082169,essv5146816,essv5046004,essv5121630,essv5031846,essv5073551,essv5074036,essv5086941,essv5114641,essv5054792,essv5049093,essv5064888,essv5011333,essv5125912,essv5018133,essv5027219,essv5036424,essv5154853,essv5136455,essv5156193,essv5052957,essv5081934,essv5093081,essv5015626,essv5024554,essv5155979,essv5155279,essv5054512,essv5059152,essv5097721,essv5087206,essv5146155,essv5158611,essv5086016,essv5064864,essv5043956,essv5121882,essv5067547,essv5086084,essv5117570,essv5039093,essv5037721,essv5128869,essv5052714,essv5013838,essv5019105,essv5009909,essv5105190,essv5099217,essv5060563,essv5038410,essv5076182,essv5068592,essv5112157,essv5060619,essv5061838,essv5037720,essv5116070,essv5086148,essv5027504,essv5106120,essv5024025,essv5153099,essv5026176,essv5007515,essv5018595,essv5082327,essv5161080,essv5113446,essv5052347,essv5114301,essv5007472,essv5082846,essv5050451,essv5034550,essv5070248,essv5034359,essv5104474,essv5044111,essv5115191,essv5154405,essv5079732,essv5058033,essv5016681,essv5153821,essv5045076,essv5124579,essv5142810,essv5044572,essv5150600,essv5039522,essv5018874,essv5075035,essv5002400,essv5042858,essv5024478,essv5062241,essv5043125,essv5125241,essv5143048,essv5013368,essv5138288,essv5111471,essv5109621,essv5069300,essv5067425,essv5136353,essv5026499,essv5127129,essv5018084,essv5115078,essv5101100,essv5088943,essv5016820,essv5157946,essv5004837,essv5038161,essv5115183,essv5097694,essv5119288,essv5097032,essv5047048,essv5120714,essv5078780,essv5055383,essv5129119,essv5151478,essv5089978,essv5057271,essv5010300,essv5098109,essv5120834,essv5043863,essv5072274,essv5145096,essv5119384,essv5161049,essv5024944,essv5056675,essv5064784,essv5089867,essv5095603,essv5132129,essv5099948,essv5047362,essv5022852,essv5062651,essv5061524,essv5151119,essv5100956,essv5045517,essv5041630,essv5035327,essv5117388,essv5021967,essv5140415,essv5028726,essv5118900,essv5017824,essv5136922,essv5121414,essv5098600,essv5083279,essv5086202,essv5144872,essv5078193,essv5055811,essv5025488,essv5043071,essv5049886,essv5015827,essv5089919,essv5112686,essv5056351,essv5111388,essv5080505,essv5113805,essv5137024,essv5032052,essv5037920,essv5057145,essv5071788,essv5143875,essv5118263,essv5041231,essv5051374,essv5110795,essv5055282,essv5035304,essv5125398,essv5149805,essv5092438,essv5057531,essv5076380,essv5003245,essv5046646,essv5035034,essv5006738,essv5140948,essv5076703,essv5085049,essv5118506,essv5128296,essv5138328,essv5024634,essv5070585,essv5110519,essv5062875,essv5159211,essv5075600,essv5103662,essv5027484,essv5067440,essv5028560,essv5107293,essv5121468,essv5106654,essv5153224,essv5119934,essv5063933,essv5030885,essv5021137,essv5017157,essv5115821,essv5099126,essv5008718,essv5055221,essv5158156,essv5082068,essv5149573,essv5102172,essv5103133,essv5130570,essv5137139,essv5034401,essv5151765,essv5018061,essv5138136,essv5008012,essv5119338,essv5098956,essv5114913,essv5140007,essv5003522,essv5100461,essv5102382,essv5127919,essv5102761,essv5127993,essv5100059,essv5070495,essv5026272,essv5138753,essv5018182,essv5104981,essv5064673,essv5112280,essv5030656,essv5115410,essv5009849,essv5160858,essv5025399,essv5100171,essv5093954,essv5041641,essv5078453,essv5129502,essv5101747,essv5008737,essv5116614,essv5146039,essv5158320,essv5021459,essv5017303,essv5050624,essv5120941,essv5084003,essv5113669,essv5011597,essv5093514,essv5134841,essv5091950,essv5128774,essv5043928,essv5078886,essv5159717,essv5075167,essv5136274,essv5016794,essv5112484,essv5110805,essv5018603,essv5016466,essv5132210,essv5120331,essv5088923,essv5016482,essv5043461,essv5118746,essv5123564,essv5040548,essv5047017,essv5006680,essv5043390,essv5067823,essv5088988,essv5007637,essv5032263,essv5023247,essv5096029,essv5099171,essv5060945,essv5038052,essv5151645,essv5092762,essv5096156,essv5102691,essv5155936,essv5062740,essv5068893,essv5079193,essv5059391,essv5112645,essv5102018,essv5027301,essv5084451,essv5131272,essv5092283,essv5084055,essv5116650,essv5040145,essv5121800,essv5112524,essv5024653,essv5025462,essv5158291,essv5020104,essv5090899,essv5062031,essv5044835,essv5136625,essv5044069,essv5123395,essv5015470,essv5110946,essv5024312,essv5048119,essv5094419,essv5056287,essv5040833,essv5125785,essv5102492,essv5100029,essv5107844,essv5118562,essv5021170,essv5084012,essv5090591,essv5109363,essv5160163,essv5009321,essv5096892,essv5129558,essv5160234,essv5137827,essv5012825,essv5020777,essv5006737,essv5140422,essv5040100,essv5004416,essv5050371,essv5032792,essv5137036,essv5104346,essv5146853,essv5159906,essv5041943,essv5097537,essv5159957,essv5159427,essv5025533,essv5158065,essv5142098,essv5035919,essv5142464,essv5054491,essv5073427,essv5092633,essv5109513,essv5160252,essv5126043,essv5023836,essv5068464,essv5088448,essv5132580,essv5103424,essv5004292,essv5128744,essv5013941,essv5125054,essv5134800,essv5028652,essv5137457,essv5057954,essv5140359,essv5091122,essv5046142,essv5005378,essv5048742,essv5079344,essv5009797,essv5006507,essv5016828,essv5099606,essv5031929,essv5034084,essv5038176,essv5024049,essv5016382,essv5127838,essv5157919,essv5088922,essv5060087,essv5065971,essv5077444,essv5039757,essv5037480,essv5083569,essv5121062,essv5011584,essv5132551,essv5151484,essv5160279,essv5053485,essv5017463,essv5087257,essv5087032,essv5097692,essv5100797,essv5025959,essv5064814,essv5071081,essv5065945,essv5151837,essv5137676,essv5034530,essv5061537,essv5042659,essv5117847,essv5041385,essv5122666,essv5155234,essv5107290,essv5063115,essv5037521,essv5004372,essv5158018,essv5003219,essv5076664,essv5043785,essv5069268,essv5103874,essv5131027,essv5080022,essv5076614,essv5027631,essv5111188,essv5149667,essv5107728,essv5101970,essv5129340,essv5156106,essv5019624,essv5063791,essv5152583,essv5017268,essv5032512,essv5079596,essv5011071,essv5075800,essv5066607,essv5112635,essv5123132,essv5006725,essv5060500,essv5021193,essv5117126,essv5006841,essv5131026,essv5103023,essv5094388,essv5070067,essv5076506,essv5065206,essv5150043,essv5043314,essv5153424,essv5117272,essv5045741,essv5011900,essv5073102,essv5148908,essv5025183,essv5103455,essv5091028,essv5011632,essv5144080,essv5060440,essv5019116,essv5052078,essv5123291,essv5073871,essv5093852,essv5143235,essv5005532,essv5075155,essv5013811,essv5054690,essv5112860,essv5093744,essv5028718,essv5046143,essv5025051,essv5071931,essv5153274,essv5112349,essv5061963,essv5020977,essv5014329,essv5100829,essv5139301,essv5042637,essv5120077,essv5115390,essv5003617,essv5113316,essv5046250,essv5148975,essv5061276,essv5013814,essv5132996,essv5114578,essv5159928,essv5076711,essv5113548,essv5009115,essv5123632,essv5051334,essv5024413,essv5089562,essv5156657,essv5029780,essv5097616,essv5050612,essv5087194,essv5005383,essv5028419,essv5034514,essv5097085,essv5027258,essv5146880,essv5092429,essv5009214,essv5118470,essv5087870,essv5046948,essv5101130,essv5074224,essv5134320,essv5117471,essv5017825,essv5030423 M 1184 1 731 "" NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07022,NA07029,NA07037,NA07051,NA07347,NA07349,NA10836,NA10839,NA10843,NA10845,NA10847,NA10852,NA10853,NA10855,NA10856,NA10863,NA10864,NA11829,NA11830,NA11831,NA11882,NA11894,NA11919,NA11920,NA11930,NA11992,NA11993,NA11995,NA12006,NA12045,NA12057,NA12144,NA12146,NA12156,NA12234,NA12249,NA12264,NA12275,NA12283,NA12344,NA12347,NA12386,NA12400,NA12413,NA12707,NA12753,NA12762,NA12763,NA12766,NA12775,NA12802,NA12812,NA12814,NA12815,NA12818,NA12828,NA12829,NA12864,NA12865,NA12872,NA12874,NA17962,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17981,NA17983,NA17986,NA17987,NA17990,NA17995,NA17996,NA17998,NA18101,NA18102,NA18106,NA18107,NA18108,NA18114,NA18118,NA18120,NA18124,NA18127,NA18128,NA18134,NA18135,NA18136,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18150,NA18151,NA18152,NA18154,NA18155,NA18156,NA18157,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18487,NA18489,NA18497,NA18498,NA18503,NA18504,NA18506,NA18507,NA18510,NA18511,NA18520,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18546,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18595,NA18597,NA18599,NA18602,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18639,NA18640,NA18642,NA18643,NA18645,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18854,NA18857,NA18870,NA18873,NA18909,NA18910,NA18912,NA18914,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18949,NA18952,NA18953,NA18954,NA18955,NA18956,NA18959,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18970,NA18971,NA18973,NA18974,NA18975,NA18976,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19035,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19078,NA19080,NA19083,NA19084,NA19086,NA19087,NA19088,NA19093,NA19094,NA19098,NA19099,NA19102,NA19103,NA19107,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19130,NA19132,NA19137,NA19138,NA19139,NA19141,NA19144,NA19146,NA19147,NA19148,NA19150,NA19151,NA19152,NA19154,NA19171,NA19172,NA19173,NA19174,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19194,NA19197,NA19201,NA19202,NA19203,NA19206,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19235,NA19239,NA19247,NA19248,NA19256,NA19257,NA19258,NA19308,NA19310,NA19311,NA19314,NA19315,NA19316,NA19317,NA19318,NA19324,NA19328,NA19346,NA19347,NA19350,NA19359,NA19371,NA19372,NA19376,NA19377,NA19381,NA19382,NA19390,NA19393,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19430,NA19431,NA19435,NA19436,NA19437,NA19439,NA19440,NA19448,NA19452,NA19455,NA19456,NA19457,NA19462,NA19466,NA19467,NA19471,NA19472,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19662,NA19663,NA19669,NA19670,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19703,NA19713,NA19714,NA19716,NA19718,NA19722,NA19723,NA19725,NA19726,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19757,NA19760,NA19762,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19818,NA19834,NA19836,NA19900,NA19901,NA19902,NA19904,NA19914,NA19915,NA19916,NA19918,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20279,NA20281,NA20282,NA20287,NA20289,NA20290,NA20294,NA20297,NA20300,NA20333,NA20341,NA20342,NA20343,NA20347,NA20348,NA20349,NA20350,NA20356,NA20359,NA20360,NA20363,NA20364,NA20505,NA20506,NA20512,NA20515,NA20517,NA20520,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20530,NA20534,NA20539,NA20540,NA20541,NA20543,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20770,NA20772,NA20774,NA20775,NA20778,NA20783,NA20786,NA20790,NA20792,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20807,NA20808,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20851,NA20852,NA20853,NA20858,NA20859,NA20862,NA20866,NA20870,NA20871,NA20873,NA20874,NA20876,NA20879,NA20881,NA20882,NA20884,NA20885,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20898,NA20899,NA20900,NA20901,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA21091,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21103,NA21105,NA21106,NA21109,NA21111,NA21113,NA21117,NA21123,NA21141,NA21142,NA21143,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21314,NA21316,NA21317,NA21318,NA21320,NA21336,NA21339,NA21352,NA21356,NA21357,NA21359,NA21360,NA21361,NA21364,NA21365,NA21366,NA21368,NA21371,NA21378,NA21379,NA21381,NA21383,NA21385,NA21386,NA21388,NA21389,NA21390,NA21391,NA21400,NA21403,NA21404,NA21405,NA21408,NA21418,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21438,NA21439,NA21440,NA21442,NA21447,NA21451,NA21457,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21514,NA21519,NA21520,NA21521,NA21522,NA21529,NA21573,NA21574,NA21576,NA21578,NA21582,NA21596,NA21599,NA21600,NA21601,NA21611,NA21613,NA21616,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21689,NA21693,NA21716,NA21719,NA21722,NA21723,NA21739,NA21784,NA21825,NA21826 nsv521218 3 142125728 142147837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685337,nssv685561 M 2026 0 2 SLC25A36 esv270089 3 142243273 142243406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494232,essv2493601,essv2494789,essv2509101,essv2505377,essv2509236,essv2511999 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517,NA18519,NA18522,NA18853,NA18909,NA19238 esv274674 3 142243277 142243505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580531 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv22188 3 142259700 142261340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17263 S 451 0 1 SPSB4 NA06985 nsv877550 3 142349784 142415921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548680 S 6533 1 0 SPSB4 MS17878 esv1116461 3 142361056 142361056 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728610 S 2 1 0 "" HuRef esv24911 3 142392047 142394644 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14493 S 451 2 0 "" NA11993,NA12004 nsv4039 3 142431586 142465242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv335 S 9 1 0 ACPL2 NA19240 nsv877551 3 142453246 142512550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548681 S 6533 1 0 ACPL2 MS17878 nsv829744 3 142499439 142671858 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443102 S 95 0 1 ZBTB38 nsv460871 3 142510304 142557652 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537359 S 1557 0 1 ZBTB38 1780862007_A nsv819098 3 142647051 142647838 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419084 S 2 0 1 ZBTB38 AK1 esv271649 3 142793264 142793453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498471,essv2501445 M 157 2 0 Samples from several populations that are part of the HapMap project. RASA2 NA18858,NA19093 esv270683 3 142801261 142801346 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516689 S 157 1 0 Samples from several populations that are part of the HapMap project. RASA2 NA11881 esv1084666 3 142811943 142812006 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978771 S 2 0 1 RASA2 HuRef nsv237170 3 142811944 142812006 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255748 M 24 RASA2 nsv524429 3 142855081 142860020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700356 S 2026 0 1 "" nsv237174 3 142867605 142867708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255752 M 24 "" esv34073 3 142878508 142931464 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv517452 3 142885335 142886900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688772,nssv659721,nssv664952,nssv657502,nssv657775,nssv652051,nssv681783,nssv679438,nssv676937,nssv681127,nssv675093,nssv683625,nssv686932 M 2026 0 13 "" nsv877552 3 142903252 142948837 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504223 S 6533 1 0 RNF7 SP52308 esv2165436 3 142972814 142973242 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594395 S 1 0 1 "" NA18507 nsv819618 3 142979723 142980607 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419107 S 2 1 0 GRK7 AK1 dgv38n50 3 143054677 143056453 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513080,nsv511222 M 1 0 1 "" 1 esv6972 3 143054827 143055570 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29413 S 1 0 1 "" SJK esv28060 3 143054857 143055580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11081 S 451 0 2 "" NA12156,NA15510 esv33727 3 143054881 143056450 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101536,essv101271,essv93846,essv96847,essv94797,essv94083,essv94346,essv97964,essv93104,essv95315,essv97430,essv95909,essv99076,essv92844,essv92691,essv98595,essv95973,essv93384,essv99704,essv95037,essv92620,essv97982,essv99302,essv97647,essv100129,essv100396,essv99486,essv96415,essv94193 M 51 29 0 "" 21603,21618,21634,21659,21791,21802,21808,21837,21863,21872,21879,21911,21938,21939,21944,22085,22127,22170,22217,22231,22233,22259,22275,22278,22286,22300,22335,22371,22394 esv25294 3 143077945 143078859 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17581 S 451 0 1 ATP1B3 NA07045 esv33484 3 143108697 143108821 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99490 S 51 1 0 ATP1B3 22335 nsv507126 3 143157151 143163151 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620229 S 4 1 0 TFDP2 NA15510 esv24180 3 143166667 143168400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11205 S 451 0 2 TFDP2 NA19108,NA19225 dgv1514e1 3 143211560 143612526 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20247,esv686,essv18263,essv24627 M 271 0 0 GK5,TFDP2,XRN1 NA10846,NA12144 dgv5265n71 3 143215011 143274098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877555,nsv877553,nsv877554 M 6533 0 3 TFDP2 IS30051,IS35862,MS17114 essv24219 3 143288078 143498280 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GK5,TFDP2 NA12144 dgv299n21 3 143295449 143647425 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522549,nsv520523 M 2026 5 0 GK5,TFDP2,XRN1 dgv619n27 3 143305311 143554622 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460875,nsv460876 M 1557 2 0 GK5,TFDP2,XRN1 1780854038_A,1798860102_A esv26432 3 143332644 143334768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19326 S 451 0 2 TFDP2 NA19129,NA19147 nsv822270 3 143332830 143334904 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434336,nssv1428960 M 31 0 2 TFDP2 AK12,NA18570 esv2751979 3 143336616 143498280 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983287,essv6983288,essv6988649 M 771 1 0 GK5,TFDP2 BEC_563 esv34483 3 143336616 143577321 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978674,essv6986683,essv6978673 M 771 1 0 GK5,TFDP2,XRN1 NA12144 nsv877556 3 143381670 143814050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579801 S 6533 0 1 ATR,GK5,PLS1,XRN1 IS35181 nsv523945 3 143416339 143702232 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699792 S 2026 1 0 ATR,GK5,XRN1 esv7548 3 143531738 143531816 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29989 S 1 1 0 XRN1 SJK nsv877557 3 143573092 143632894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503681 S 6533 0 1 XRN1 SP52094 dgv5266n71 3 143606531 143844869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877559,nsv877558,nsv877561,nsv877560 M 6533 0 5 ATR,PLS1,XRN1 IS31837,IS33475,IS33533,IS41634,MS22104 esv274294 3 143614887 143615211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581166 S 7 1 0 Samples from several populations that are part of the HapMap project. XRN1 NA19240 nsv523596 3 143615439 143647425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699388 S 2026 0 1 XRN1 nsv237317 3 143633713 143633713 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255895 M 24 XRN1 nsv528954 3 143646707 143702232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705650 S 2026 0 1 ATR,XRN1 dgv827n67 3 143761947 143762448 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822272,nsv822271 M 31 0 2 ATR NA18542,NA18968 esv2564720 3 143829019 143830394 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199162 S 1 0 1 PLS1 NA18507 dgv300n21 3 143893890 143986295 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518623,nsv521098 M 2026 2 0 PLS1,TRPC1 nsv520533 3 143899760 143922989 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672770,nssv672185 M 2026 2 0 PLS1 esv268258 3 143942691 143943030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519270,essv2517378,essv2515466,essv2516417,essv2516036,essv2517587,essv2516266,essv2519128 M 157 8 0 Samples from several populations that are part of the HapMap project. TRPC1 NA11894,NA11918,NA12249,NA12814,NA12873,NA12878,NA12891,NA19141 esv274601 3 143942701 143943030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582088,essv2582666 M 7 2 0 Samples from several populations that are part of the HapMap project. TRPC1 NA12878,NA12891 nsv820119 3 144005908 144007899 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419365 S 2 0 1 TRPC1 AK1 nsv877562 3 144056479 144329060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548682 S 6533 1 0 CHST2,LOC100289361,LOC100507389,PAQR9,PCOLCE2,U2SURP MS17878 esv270805 3 144087884 144088193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504046,essv2498534,essv2509600 M 157 3 0 Samples from several populations that are part of the HapMap project. PCOLCE2 NA18505,NA18858,NA19129 dgv75n17 3 144087923 144105524 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437343,nsv437342 M 60 0 2 PCOLCE2 NA18914,NA19240 esv22779 3 144093169 144094871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12862 S 451 0 1 "" NA19240 nsv437886 3 144093300 144094347 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471403,nssv471406,nssv471404,nssv471405 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18913,NA18914,NA19238,NA19240 nsv520851 3 144093300 144094347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697649 S 2026 0 1 "" nsv10332 3 144093366 144096343 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11671 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv259588 3 144112445 144112744 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394069,essv2394286 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268713 3 144130107 144130436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543999,essv2556503,essv2570577,essv2520452,essv2565476,essv2558793,essv2562907,essv2542640,essv2549407,essv2555662,essv2526361,essv2533399,essv2524925 M 157 13 0 Samples from several populations that are part of the HapMap project. LOC100507389 NA07051,NA07357,NA11992,NA11994,NA12044,NA12716,NA12812,NA18516,NA18532,NA18550,NA18564,NA18945,NA19114 nsv4040 3 144131836 144158442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7875 S 9 0 1 LOC100507389 NA12156 nsv877563 3 144144040 144226579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557677 S 6533 0 1 LOC100289361,LOC100507389,PAQR9,U2SURP MS22798 dgv1515e1 3 144202920 144447063 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv679,essv23527 M 271 0 0 CHST2,LOC100289361,U2SURP NA06993 nsv513081 3 144247029 144249735 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626568 S 1 0 1 U2SURP 1 nsv508250 3 144325144 144426412 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619924 S 4 0 1 CHST2 NA15510 esv2470862 3 144356966 144358553 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287470 S 1 0 1 "" NA18507 nsv529013 3 144359917 144370733 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705724 S 2026 1 0 "" esv34280 3 144370150 144444765 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980263,essv6980264,essv6980265,essv6980262 M 771 1 0 "" NA06993 nsv818171 3 144377101 144442963 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416449 S 112 1 0 "" NA06993 essv18052 3 144388351 144447063 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA06993 nsv10333 3 144396471 144401795 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29113 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 dgv1516e1 3 144475387 144768669 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv45,essv21217 M 271 0 0 SLC9A9 NA11830 nsv520125 3 144503560 144511712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697236 S 2026 0 1 SLC9A9 nsv877564 3 144542642 144599573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536895 S 6533 0 1 SLC9A9 MS13011 nsv877565 3 144561676 144599573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548683 S 6533 1 0 SLC9A9 MS17878 esv2653887 3 144649760 144652070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178692 S 1 0 1 SLC9A9 NA18507 nsv822273 3 144649902 144652263 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423150 S 31 0 1 SLC9A9 NA18592 nsv513082 3 144650119 144652099 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626569 S 1 0 1 SLC9A9 1 esv1190500 3 144650430 144650648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322026 S 2 0 1 SLC9A9 HuRef esv1701091 3 144650655 144650798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687025 S 2 0 1 SLC9A9 HuRef esv1621744 3 144650803 144651204 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895257 S 2 0 1 SLC9A9 HuRef esv32611 3 144673988 144678152 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99216 S 51 1 0 SLC9A9 22275 esv274176 3 144677510 144677855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581602 S 7 1 0 Samples from several populations that are part of the HapMap project. SLC9A9 NA12878 nsv511204 3 144697762 144705564 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626599 S 1 0 1 SLC9A9 1 nsv523529 3 144698162 144712259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699303 S 2026 0 1 SLC9A9 nsv10334 3 144699844 144704259 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11701,nssv28907,nssv12207 M 31 0 3 Samples from several populations that are part of the HapMap project. SLC9A9 NA18853,NA19132,NA19240 nsv513083 3 144702231 144704460 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626570 S 1 0 1 SLC9A9 1 esv33993 3 144702354 144703946 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94956 S 51 0 1 SLC9A9 22231 esv27203 3 144702472 144703880 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18470 S 451 0 4 SLC9A9 NA19108,NA19129,NA19147,NA19240 nsv518873 3 144703387 144720109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696330 S 2026 0 1 SLC9A9 esv2750736 3 144711729 144712469 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100711 S 51 0 1 SLC9A9 21656 nsv829745 3 144761202 144888316 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443103 S 95 1 0 SLC9A9 nsv877566 3 144880430 144903911 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548684 S 6533 1 0 SLC9A9 MS17878 nsv877567 3 144920814 144961144 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548685 S 6533 1 0 SLC9A9 MS17878 nsv4041 3 144929756 144963930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7876 S 9 1 0 SLC9A9 NA12156 esv2509262 3 145090585 145092051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210174 S 1 0 1 "" NA18507 esv2277399 3 145091020 145091576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814407 S 1 0 1 "" NA18507 esv2646891 3 145103178 145104633 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218260 S 1 0 1 "" NA18507 esv2272104 3 145103521 145104037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738663 S 1 0 1 "" NA18507 nsv877568 3 145103830 145475320 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548686 S 6533 1 0 C3orf58 MS17878 nsv518814 3 145149515 145186440 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696267 S 2026 1 0 C3orf58 esv2321998 3 145179960 145180387 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903251 S 1 0 1 C3orf58 NA18507 nsv238021 3 145187975 145188297 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256599 M 24 C3orf58 nsv877569 3 145245110 145308129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502096 S 6533 0 1 "" SP51132 nsv877570 3 145335839 145606091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522133 S 6533 0 1 "" SP52740 nsv522821 3 145381764 145384717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698470 S 2026 0 1 "" nsv525190 3 145381764 145392037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701269 S 2026 0 1 "" esv1936481 3 145395252 145395705 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945094 S 1 0 1 "" NA18507 nsv4042 3 145496734 145531736 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3203 S 9 1 0 "" NA12878 nsv822274 3 145541895 145546972 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421611,nssv1425656 M 31 0 2 "" AK4,NA18997 esv1419466 3 145591503 145591613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004852 S 2 0 1 "" HuRef nsv877571 3 145671251 145773944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528569 S 6533 0 1 "" SP81273 nsv822275 3 145694286 145695076 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425658 S 31 1 0 "" AK4 dgv1517e1 3 145718892 145874077 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv483,essv5297 M 271 0 0 "" NA18624 nsv877572 3 145726955 145795092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591106 S 6533 0 1 "" IS38637 nsv877573 3 145748530 145806683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580219,nssv1598123 M 6533 0 2 "" IS35244,IS41224 dgv76n17 3 145760023 145785403 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437345,nsv437344 M 60 0 2 "" NA18872,NA19120 nsv436364 3 145763524 145775376 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466036 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv10335 3 145763659 145774845 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28967 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 esv26025 3 145764209 145775224 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20804 S 451 0 2 "" NA18505,NA18523 nsv514996 3 145765728 145767072 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628490 S 1414 0 0 "" esv2421861 3 145765733 145770405 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067957,essv5080591,essv5123004,essv5126167,essv5004749,essv5153492,essv5081771,essv5059097,essv5109914,essv5060895,essv5063954,essv5080739 M 1184 0 12 "" NA18505,NA18853,NA18857,NA18870,NA18872,NA19119,NA19120,NA19428,NA19443,NA19470,NA20127,NA21733 nsv441842 3 145765733 145770405 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516101 3 145766332 145773944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654574,nssv666213,nssv686933 M 2026 0 3 "" esv271839 3 145790871 145790956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516365,essv2513881 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA19143 nsv10336 3 145803130 145806505 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28997 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 esv2032545 3 145822859 145823253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979721 S 1 0 1 "" NA18507 nsv10337 3 145871235 145875333 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29032 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 esv1142267 3 145912763 145912763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075912 S 2 1 0 "" HuRef nsv829746 3 145934168 146100914 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443104 S 95 0 1 "" nsv829747 3 145946020 146136782 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443105 S 95 1 0 "" esv275317 3 145965072 145969210 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585370 S 1250 0 1 "" esv270691 3 145985798 145986072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557026,essv2569553,essv2536825,essv2538554,essv2572723 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18517,NA19108,NA19143 nsv513084 3 145999869 146001476 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626571 S 1 0 1 "" 1 esv2589005 3 145999910 146001805 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332224 S 1 0 1 "" NA18507 nsv525344 3 146067063 146145921 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701462 S 2026 1 0 "" nsv4044 3 146081915 146098147 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv336,nssv4686 M 9 2 0 "" NA19129,NA19240 esv268492 3 146092730 146098114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508372,essv2507756,essv2511871,essv2510777,essv2493293,essv2504201,essv2496576,essv2496223,essv2501125,essv2494892,essv2506228,essv2500896,essv2507115,essv2501475,essv2506971,essv2506651,essv2498996,essv2509572,essv2512025,essv2501927,essv2498065 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA12749,NA12751,NA18499,NA18501,NA18504,NA18505,NA18510,NA18511,NA18516,NA18520,NA18523,NA18856,NA18870,NA19093,NA19102,NA19108,NA19114,NA19129,NA19238,NA19239,NA19240 esv273245 3 146092733 146098096 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580163,essv2580504 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv5267n71 3 146164480 146286502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877574,nsv877576,nsv877575 M 6533 0 6 "" IS34358,IS39509,MS18742,MS19303,MS20286,MS21706 esv271209 3 146170541 146170846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558130,essv2575895,essv2540984,essv2571762,essv2546156,essv2521383,essv2526122,essv2542473,essv2536772,essv2544014,essv2570845,essv2556698,essv2568305,essv2545619,essv2523333,essv2577197,essv2570465,essv2548177,essv2521576,essv2576656,essv2525524,essv2535322,essv2552140,essv2520576,essv2547255,essv2529305,essv2558403,essv2564491,essv2553563,essv2559718,essv2565264,essv2519994,essv2564245,essv2555007,essv2530619,essv2561779,essv2528345,essv2546742,essv2557201,essv2552422,essv2551758,essv2532175,essv2569610,essv2550219,essv2558807,essv2537143,essv2569790,essv2527363,essv2561465,essv2523834,essv2541428,essv2542761,essv2524486,essv2565036,essv2534775,essv2539701,essv2549412,essv2519529,essv2559941,essv2522066,essv2531110,essv2532729,essv2568012,essv2528757,essv2567327,essv2541658,essv2569997,essv2563682,essv2535706,essv2572529,essv2559104,essv2542069,essv2550960,essv2543661,essv2556296,essv2562239,essv2534164,essv2578226,essv2555275,essv2533644,essv2530009,essv2527694,essv2557639,essv2534319,essv2522618,essv2531490,essv2573683,essv2543214,essv2577036,essv2572168,essv2529515,essv2575670,essv2575334,essv2538634,essv2526412,essv2524250,essv2574613,essv2530222,essv2572889,essv2568576,essv2560167,essv2548120,essv2571492,essv2574404,essv2551370,essv2537829,essv2548725,essv2533394,essv2554400,essv2525113,essv2563237 M 157 111 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18508,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18537,NA18545,NA18550,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18856,NA18858,NA18870,NA18871,NA18909,NA18916,NA18940,NA18943,NA18944,NA18949,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19143,NA19147,NA19190,NA19210,NA19238,NA19240,NA19257 esv272830 3 146170541 146170846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582648,essv2583202,essv2584362,essv2583616 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 esv1001057 3 146170557 146170557 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570496 S 3 1 0 "" HuRef esv1238769 3 146170574 146170574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710586 S 2 1 0 "" HuRef esv1009481 3 146175800 146175925 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580017 S 3 0 1 "" HuRef nsv236967 3 146175802 146175927 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255545 M 24 "" nsv877577 3 146184599 146347664 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601032 S 6533 0 1 "" IS41964 nsv877578 3 146216758 146326611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555238 S 6533 0 1 "" MS21249 esv27305 3 146233185 146233687 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17089 S 451 0 1 "" NA12489 esv2422527 3 146273338 146273707 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286995 S 1 1 0 "" NA18507 esv1266154 3 146273472 146273472 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918530 S 2 1 0 "" HuRef esv2482801 3 146293010 146294417 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255805 S 1 0 1 "" NA18507 dgv5268n71 3 146298196 146462072 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877579,nsv877580 M 6533 0 2 "" IS36219,IS39011 nsv877581 3 146298196 146664600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523400 S 6533 1 0 "" SP54006 nsv877582 3 146354501 146399104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515233 S 6533 0 1 "" SP56143 nsv877583 3 146363278 146548796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541103 S 6533 0 1 "" MS15199 esv2584140 3 146370964 146372436 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267605 S 1 0 1 "" NA18507 esv2108306 3 146370965 146371796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865200 S 1 0 1 "" NA18507 esv27965 3 146371193 146371693 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13200 S 451 1 0 "" NA18523 nsv877584 3 146386647 147315922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589328 S 6533 1 0 PLOD2 IS38337 nsv877585 3 146428909 146477417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502195 S 6533 0 1 "" SP50872 nsv877586 3 146432143 146510337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548687 S 6533 1 0 "" MS17878 nsv877587 3 146432143 146838123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546075 S 6533 0 1 "" MS17114 dgv5269n71 3 146445142 146548796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877595,nsv877589,nsv877588,nsv877591,nsv877590,nsv877592,nsv877594 M 6533 0 31 "" MS10591,MS10867,MS11237,MS11558,MS12398,MS12509,MS13160,MS14939,MS15097,MS15220,MS16213,MS16259,MS16265,MS16459,MS17974,MS18747,MS18787,MS19340,MS19458,MS19891,MS20211,MS20563,MS20996,MS21863,MS22179,MS22863,MS23796,MS24329,MS25375,MS25603,MS25690 nsv4045 3 146450055 146482511 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10365,nssv3204,nssv7039,nssv4687,nssv337,nssv2420 M 9 6 0 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv877593 3 146451580 146575437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534916 S 6533 0 1 "" MS11821 nsv460877 3 146451580 146657273 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537362 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00688 nsv470916 3 146462072 146510817 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544388 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00553 nsv877596 3 146463536 146506530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514409 S 6533 0 1 "" SP56004 esv997028 3 146466668 146486811 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564454 S 3 1 0 "" HuRef nsv508959 3 146468751 146468751 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623387 S 4 1 0 "" NA18994 nsv511099 3 146468751 146493936 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618642,nssv622362,nssv621563 M 4 0 0 "" CHM,NA10860,NA15510 esv1538861 3 146473753 146473843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927677 S 2 0 1 "" HuRef nsv460878 3 146477417 146524529 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537363 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00553 nsv470927 3 146477417 146634244 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544399 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00688 nsv877597 3 146548818 146630110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598869 S 6533 0 1 "" IS41263 dgv5270n71 3 146548818 146743071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877599,nsv877600,nsv877601,nsv877598,nsv877603 M 6533 0 5 "" IS31373,IS33196,IS33811,IS35181,IS35862 esv269692 3 146552115 146552200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514146,essv2514898,essv2517590,essv2517267 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12812,NA12878,NA18970 esv273278 3 146552115 146552200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581325 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv877602 3 146575437 146667792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579610 S 6533 0 1 "" IS35145 nsv877604 3 146617321 146698053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569319 S 6533 0 1 "" IS31563 nsv877605 3 146617321 146732724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565768 S 6533 0 1 "" IS30522 nsv822277 3 146629295 146630053 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423273 S 31 1 0 "" NA18592 nsv460879 3 146630110 146698053 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537364 S 1557 0 1 "" 1782681093_A nsv526968 3 146669763 146687862 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703340 S 2026 1 0 "" nsv520174 3 146707800 146736832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681141,nssv673241,nssv682932,nssv685144,nssv687481,nssv661350 M 2026 0 6 "" esv269981 3 146727010 146727310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558000,essv2540876,essv2546314,essv2521225,essv2522817,essv2548536,essv2521554,essv2544521,essv2552240,essv2520391,essv2558369,essv2564755,essv2576345,essv2561915,essv2557285,essv2557250,essv2523803,essv2541255,essv2543015,essv2549297,essv2519816,essv2559919,essv2522043,essv2566051,essv2568033,essv2570323,essv2566921,essv2569172,essv2572958,essv2533564,essv2527512,essv2577024,essv2575574,essv2538769,essv2545213,essv2549750,essv2549099,essv2554513 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10851,NA11831,NA11881,NA11894,NA11931,NA12045,NA12144,NA12414,NA12489,NA12716,NA12750,NA12751,NA12814,NA12874,NA18499,NA18501,NA18537,NA18545,NA18550,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18593,NA18853,NA18861,NA18942,NA18944,NA18952,NA18970,NA19099,NA19108,NA19172,NA19225 nsv877606 3 146743071 147919892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535030 S 6533 1 0 PLOD2,PLSCR1,PLSCR2,PLSCR4,PLSCR5 MS11971 dgv5271n71 3 146774367 146853092 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877607,nsv877608 M 6533 0 2 "" MS16934,SP54591 nsv460880 3 146804657 146873790 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537365 S 1557 1 0 "" 1780854491_A nsv523075 3 146870607 146964776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698765 S 2026 0 1 "" nsv523565 3 146916629 146964776 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699346 S 2026 1 0 "" nsv877609 3 146916629 146987007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598101 S 6533 0 1 "" IS41263 nsv508251 3 146920999 146974803 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618723 S 4 0 1 "" NA10860 esv1275464 3 146945518 146945518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195233 S 2 1 0 "" HuRef nsv877610 3 146948085 147136317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548688 S 6533 1 0 "" MS17878 esv2751980 3 146955710 147240884 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983731,essv6983730,essv6989388,essv6989848,essv6983729 M 771 0 1 "" BEC_618 esv33307 3 146989073 147150523 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95795 S 51 0 1 "" 21911 esv272245 3 147006034 147006139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584741,essv2583766 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270259 3 147006034 147006177 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540084,essv2557466,essv2552490,essv2532326,essv2550125,essv2569627,essv2561372,essv2568852,essv2556295,essv2527899,essv2562439,essv2529580,essv2526725,essv2574655,essv2530389,essv2560232,essv2546082,essv2574386,essv2551412 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18499,NA18502,NA18505,NA18511,NA18520,NA18523,NA18861,NA18871,NA18907,NA18909,NA19093,NA19114,NA19138,NA19141,NA19190,NA19239,NA19240,NA19257 dgv5272n71 3 147008679 147136317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877611,nsv877612 M 6533 0 2 "" IS31285,IS31581 nsv525829 3 147097007 147346469 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702018 S 2026 0 1 PLOD2 dgv1518e1 3 147098542 147144461 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8499,esv972 M 271 0 0 "" NA18854 nsv437347 3 147103500 147147908 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467228 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv517206 3 147107316 147143052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652201,nssv654010,nssv674098,nssv667407,nssv660838,nssv665363,nssv689514,nssv674258 M 2026 0 8 "" esv22293 3 147109012 147144833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20102,esv17858 M 451 0 2 "" NA12749,NA19190 nsv818172 3 147109058 147143052 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417844,nssv1417843 M 112 0 2 "" NA18852,NA18854 nsv508252 3 147126186 147138411 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618724 S 4 0 1 "" NA10860 nsv511219 3 147126543 147128373 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626765 S 1 0 1 "" 1 esv1925978 3 147127511 147131988 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969856 S 1 0 1 "" NA18507 dgv828n67 3 147127559 147128240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822279,nsv822278 M 31 19 0 "" AK10,AK12,AK16,AK18,AK2,AK4,AK6,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18997,NA18999 nsv513085 3 147127606 147134378 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626572 S 1 0 1 "" 1 nsv236136 3 147127659 147131876 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254714 M 24 "" nsv822280 3 147151315 147152002 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434338 S 31 1 0 "" NA18570 nsv822281 3 147151528 147152002 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424107 S 31 1 0 "" NA18582 nsv4046 3 147175939 147362879 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9384 S 9 0 1 PLOD2 NA18517 esv2452828 3 147194057 147195537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199443 S 1 0 1 "" NA18507 esv1746609 3 147215941 147215941 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656615 S 2 1 0 "" HuRef nsv877613 3 147315922 147394745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518432 S 6533 1 0 PLOD2,PLSCR4 SP57553 nsv877614 3 147386116 147508586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581822 S 6533 0 1 PLSCR4 IS35742 nsv877615 3 147393120 147470921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548689 S 6533 1 0 PLSCR4 MS17878 nsv877616 3 147404644 147466378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513926 S 6533 0 1 PLSCR4 SP55878 esv2442002 3 147413695 147415202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195193 S 1 0 1 PLSCR4 NA18507 esv2415943 3 147414386 147415120 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912120 S 1 0 1 PLSCR4 NA18507 esv4008 3 147414539 147415071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26449 S 1 0 1 Single Asian sample YH PLSCR4 YH esv1197123 3 147414603 147414915 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149535 S 2 0 1 PLSCR4 HuRef esv9695 3 147414605 147414912 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32136 S 1 0 1 PLSCR4 SJK esv2265170 3 147424787 147425156 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849708 S 1 0 1 PLSCR4 NA18507 esv271237 3 147480324 147480592 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545484,essv2540103,essv2557515,essv2562718,essv2543635,essv2556274,essv2572851,essv2551324 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA18489,NA18499,NA18507,NA18870,NA18871,NA19143,NA19257 esv24704 3 147554051 147568458 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19457 S 451 1 0 "" NA12828 dgv5273n71 3 147578872 147654799 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877617,nsv877619,nsv877620,nsv877621 M 6533 0 4 PLSCR2 SP52094,SP55694,SP55878,SP56301 nsv877618 3 147578872 147675014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503645 S 6533 0 1 PLSCR2 SP52093 nsv877622 3 147614651 147702430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514410 S 6533 0 1 PLSCR2 SP56004 esv2496437 3 147669592 147745651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330870 S 1 0 1 PLSCR1,PLSCR2 NA18507 esv267498 3 147702487 147702601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504034,essv2496331,essv2501178,essv2498947 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18510,NA18516,NA19114 nsv822282 3 147719737 147721625 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429716 S 31 1 0 PLSCR1 AK14 esv6925 3 147761181 147761265 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29366 S 1 1 0 "" SJK nsv877623 3 147761306 147802058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566990 S 6533 0 1 PLSCR5 IS31041 nsv508253 3 147765310 147784167 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618725 S 4 0 1 "" NA10860 esv269867 3 147813673 147813977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546407,essv2545557,essv2559604,essv2578589,essv2558822,essv2561583,essv2541086,essv2542873,essv2524323,essv2559899,essv2528971,essv2567298,essv2528158,essv2578397,essv2557668,essv2545031 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12003,NA12776,NA18510,NA18516,NA18523,NA18545,NA18550,NA18555,NA18570,NA18579,NA18582,NA18907,NA18940,NA18953,NA19172 esv1466846 3 147835846 147835846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076672 S 2 1 0 "" HuRef nsv516386 3 147849203 148241095 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701203,nssv703778,nssv691231,nssv667949 M 2026 3 1 "" nsv4047 3 147850844 147884548 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4688,nssv10366,nssv3205 M 9 0 3 "" NA12878,NA18956,NA19129 nsv508254 3 147862641 147869646 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618726 S 4 0 1 "" NA10860 nsv435753 3 147864911 147873843 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466037 S 2 0 1 "" NA15510 esv988809 3 147865502 147873675 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564521 S 3 0 1 "" HuRef esv2643552 3 147866619 147875396 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214743 S 1 0 1 "" NA18507 nsv513086 3 147866905 147873185 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626573 S 1 0 1 "" 1 nsv436383 3 147867331 147873340 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466038 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv21935 3 147867879 147873031 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15132 S 451 17 0 "" NA07045,NA11931,NA11995,NA12156,NA12239,NA12414,NA12489,NA12776,NA15510,NA18505,NA18517,NA18523,NA18858,NA18909,NA19129,NA19240,NA19257 nsv821286 3 147867879 147875269 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420345 S 1 0 1 "" NA10851 nsv499017 3 147867880 147873095 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585878 S 9 0 1 "" nsv514173 3 147868240 147871296 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627609 S 1414 1 0 "" nsv877624 3 147897527 148019431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579101 S 6533 0 1 "" IS35018 esv22105 3 147898288 147900039 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12803 S 451 0 1 "" NA18861 esv270928 3 147907786 147907903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511174,essv2505025,essv2494344,essv2505378,essv2498576,essv2513522,essv2503482,essv2502650 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12828,NA18502,NA18853,NA18858,NA18907,NA18947,NA18965 esv28023 3 147910164 147910947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19094 S 451 0 2 "" NA18907,NA19225 nsv877625 3 147944125 148004668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507638 S 6533 0 1 "" SP54579 esv22951 3 147966365 147971814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17006,esv13750 M 451 0 4 "" NA18508,NA18861,NA19147,NA19225 nsv460881 3 147995443 148051727 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537366 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00963 dgv5274n71 3 148096983 148183067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877626,nsv877627 M 6533 0 2 "" IS31166,IS31205 nsv521514 3 148129994 148389888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698131 S 2026 0 1 "" esv2648217 3 148232479 148233973 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322751 S 1 0 1 "" NA18507 esv2632096 3 148303380 148304882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216384 S 1 0 1 "" NA18507 esv268568 3 148385274 148385425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516624 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv1590432 3 148418433 148418649 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967444 S 2 0 1 "" HuRef nsv877628 3 148447518 148541057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551282 S 6533 0 1 "" MS18847 esv2429026 3 148511076 148512650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241502 S 1 0 1 "" NA18507 nsv4048 3 148542053 148576104 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3109 S 9 1 0 "" NA18555 esv272240 3 148559366 148559737 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580871 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 dgv829n67 3 148565001 148565800 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822283,nsv822284 M 31 0 2 "" NA18949,NA18999 nsv822285 3 148581771 148629152 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428182 S 31 1 0 ZIC1,ZIC4 AK10 nsv470938 3 148683182 148758444 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544421,nssv544432,nssv544410 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864,HGDP00876,HGDP01061 nsv523198 3 148693667 148758120 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698916 S 2026 1 0 "" nsv460885 3 148693667 148768602 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537368 S 1557 0 1 "" 1780854061_A esv2533679 3 148728907 148730430 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311606 S 1 0 1 "" NA18507 nsv829749 3 148893160 149101101 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443106 S 95 1 0 "" nsv4049 3 148896001 148910281 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7877 S 9 0 1 "" NA12156 nsv877629 3 148897535 148938099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585339 S 6533 0 1 "" IS37428 esv9374 3 149025386 149025439 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31815 S 1 1 0 "" SJK esv990786 3 149088538 149090525 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564184 S 3 1 0 "" HuRef esv2503101 3 149088575 149090152 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248319 S 1 0 1 "" NA18507 esv2207861 3 149089185 149090101 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4614840 S 1 0 1 "" NA18507 esv7768 3 149089283 149089945 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30209 S 1 0 1 "" SJK esv1220737 3 149089353 149089930 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937141 S 2 0 1 "" HuRef esv273173 3 149090472 149091883 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580898,essv2579104,essv2579738 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270063 3 149090496 149091954 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510268,essv2510149,essv2500828,essv2503186,essv2505080,essv2502290,essv2501671,essv2503370,essv2508566,essv2508346,essv2502514,essv2507757,essv2493456,essv2511726,essv2493196,essv2496158,essv2501195,essv2509118,essv2508757,essv2500438,essv2503273,essv2497298,essv2497149,essv2504543,essv2507847,essv2511269,essv2500621,essv2512666,essv2508186,essv2508654,essv2509985,essv2499253,essv2501617,essv2512884,essv2507572,essv2505833,essv2513440,essv2511631,essv2511144,essv2497967,essv2503481,essv2512276,essv2493114,essv2503723,essv2502699,essv2500750,essv2512802,essv2506871,essv2498948,essv2509618,essv2493564,essv2498756,essv2510466,essv2499744,essv2511985,essv2498210,essv2502214,essv2495821,essv2495038,essv2511575,essv2513038 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10847,NA10851,NA11829,NA11830,NA11881,NA11995,NA12004,NA12144,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA18499,NA18504,NA18511,NA18516,NA18522,NA18532,NA18537,NA18542,NA18545,NA18552,NA18563,NA18564,NA18570,NA18571,NA18577,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18861,NA18907,NA18940,NA18944,NA18945,NA18947,NA18949,NA18951,NA18960,NA18965,NA18973,NA18980,NA19102,NA19114,NA19129,NA19137,NA19138,NA19172,NA19225,NA19238,NA19240,NA19257 esv1161572 3 149090542 149090542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130452 S 2 1 0 "" HuRef nsv4050 3 149161900 149166794 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv338 S 9 1 0 "" NA19240 esv259414 3 149167885 149168294 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393750,essv2394311 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv259743 3 149167893 149168305 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398636,essv2396756,essv2400025,essv2398096,essv2396682,essv2398256,essv2399736,essv2395602,essv2399338,essv2396868,essv2394664,essv2395353,essv2399997,essv2399641,essv2398710,essv2395953,essv2400503,essv2394501 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA12144,NA12750,NA12763,NA12828,NA18501,NA18522,NA18579,NA18870,NA18916,NA18940,NA18964,NA19190,NA19238,NA19240,NA19257 dgv5275n71 3 149178088 149286040 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877631,nsv877630 M 6533 0 2 "" MS17611,MS18978 nsv4051 3 149185732 149218022 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3207 S 9 1 0 "" NA12878 nsv470949 3 149187078 149280583 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544443 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 esv28234 3 149311053 149311586 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19688 S 451 0 2 "" NA12414,NA19108 esv2573037 3 149311993 149313545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277517 S 1 0 1 "" NA18507 esv28165 3 149319655 149322639 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18866 S 451 0 2 "" NA18907,NA19147 esv33620 3 149351941 149364996 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98845 S 51 0 1 "" 21606 nsv877632 3 149386570 149465467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550217 S 6533 0 1 "" MS18375 esv269325 3 149394328 149394669 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511777,essv2510560,essv2493320,essv2504284,essv2501095,essv2493617,essv2505240,essv2505970,essv2509307,essv2495616,essv2506993 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18504,NA18505,NA18516,NA18517,NA18853,NA18861,NA18909,NA18916,NA19102 nsv877633 3 149434837 149672629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581362 S 6533 0 1 "" IS35572 nsv829750 3 149581783 149745318 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443108 S 95 0 1 "" nsv527201 3 149596814 149677175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703601 S 2026 0 1 "" dgv1519e1 3 149598953 149784829 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10457,esv341 M 271 0 0 "" NA18515 nsv877634 3 149609643 149866071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528037 S 6533 1 0 "" SP81108 nsv10338 3 149675015 149676794 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12193 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 esv995043 3 149679907 149680717 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565807 S 3 0 1 "" HuRef esv1466941 3 149679917 149680179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890918 S 2 0 1 "" HuRef nsv237123 3 149689167 149689484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255701 M 24 "" nsv4052 3 149736377 149774484 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2421 S 9 0 1 "" NA18555 nsv508255 3 149751542 149783220 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622471 S 4 0 1 "" NA18994 nsv511100 3 149751542 149830095 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621564 S 4 0 0 "" NA15510 esv998616 3 149762085 149768109 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565485 S 3 0 1 "" HuRef nsv513087 3 149763115 149768322 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626574 S 1 0 1 "" 1 dgv84n16 3 149763266 149770377 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436367,nsv435759 M 2 0 2 "" NA15510,NA18505 esv2461352 3 149764079 149769146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296431 S 1 0 1 "" NA18507 nsv499018 3 149764124 149768116 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585879 S 9 0 1 "" esv1005834 3 149764127 149768111 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572004 S 3 0 1 "" HuRef esv1560272 3 149764130 149768115 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878377 S 2 0 1 "" HuRef esv9635 3 149764141 149768109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32076 S 1 0 1 "" SJK nsv877635 3 149791563 149835896 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548690 S 6533 1 0 "" MS17878 nsv507127 3 149809445 149815445 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621723,nssv622872 M 4 2 0 "" NA10860,NA18994 esv270285 3 149841896 149842080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496753,essv2493679,essv2504696,essv2499008 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18517,NA19099,NA19114 nsv4053 3 149864798 149895561 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7878 S 9 0 1 "" NA12156 nsv877636 3 149924310 149963938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530098 S 6533 0 1 AGTR1 MS10203 nsv877637 3 149927683 149935936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532829 S 6533 1 0 AGTR1 MS10871 nsv877638 3 149937889 150026101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548691 S 6533 1 0 AGTR1 MS17878 nsv508256 3 149943564 150025210 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618727 S 4 0 1 "" NA10860 nsv829751 3 150038810 150201242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443109 S 95 0 1 CPA3,CPB1,GYG1 esv2507087 3 150048763 150050368 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290923 S 1 0 1 CPB1 NA18507 esv1937920 3 150049289 150050001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736548 S 1 0 1 CPB1 NA18507 esv5048 3 150049429 150049850 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27489 S 1 0 1 Single Asian sample YH CPB1 YH dgv127n6 3 150049483 150049810 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236257,nsv236963 M 24 CPB1 esv998869 3 150049486 150049803 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576449 S 3 0 1 CPB1 HuRef esv6949 3 150049492 150049760 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29390 S 1 0 1 CPB1 SJK esv1368988 3 150049492 150049810 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054330 S 2 0 1 CPB1 HuRef nsv829752 3 150124226 150284596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443110 S 95 0 1 GYG1,HLTF nsv829753 3 150155005 150321235 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443113,nssv1443112,nssv1443111 M 95 3 0 GYG1,HLTF nsv528849 3 150254612 150318131 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705528 S 2026 1 0 HLTF esv1349617 3 150279943 150279997 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070029 S 2 0 1 HLTF HuRef esv988741 3 150303989 150315854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564815 S 3 0 1 "" HuRef esv2478128 3 150326607 150328207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234595 S 1 0 1 "" NA18507 esv2204787 3 150326873 150327584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4961222 S 1 0 1 "" NA18507 esv4976 3 150326937 150327481 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27417 S 1 0 1 Single Asian sample YH "" YH nsv236913 3 150327063 150327390 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255491 M 24 "" esv993500 3 150327065 150327392 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584931 S 3 0 1 "" HuRef esv5495 3 150327073 150327389 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27936 S 1 0 1 "" SJK esv1474685 3 150327076 150327404 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929163 S 2 0 1 "" HuRef nsv4055 3 150390410 150435222 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7879 S 9 0 1 CP NA12156 esv273611 3 150392000 150392256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580207,essv2579882 M 7 2 0 Samples from several populations that are part of the HapMap project. CP NA12878,NA12892 esv269498 3 150392015 150392244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540045,essv2520928,essv2556863,essv2551876,essv2537072,essv2538971,essv2561423,essv2556196,essv2527981,essv2575499,essv2524006,essv2560874,essv2530362,essv2560337,essv2548146,essv2545873,essv2574107 M 157 17 0 Samples from several populations that are part of the HapMap project. CP NA18489,NA18498,NA18501,NA18504,NA18517,NA18519,NA18523,NA18871,NA18907,NA19099,NA19129,NA19137,NA19141,NA19190,NA19210,NA19239,NA19240 nsv877639 3 150414670 150456155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518502 S 6533 1 0 CP SP57651 nsv528012 3 150421640 150450025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704540 S 2026 0 1 CP dgv301n21 3 150433470 150456155 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv515663,nsv520288 M 2026 0 84 "" esv33315 3 150433781 150434015 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93297 S 51 1 0 "" 22170 nsv818173 3 150435715 150450025 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416226 S 112 0 1 "" NA12057 dgv48n64 3 150444731 150450025 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818175,nsv818174 M 112 0 8 "" NA06985,NA10863,NA11882,NA12234,NA18542,NA18576,NA18992,NA18999 nsv437855 3 150444731 150456155 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467736 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 nsv877640 3 150444731 150470843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587215 S 6533 0 1 "" IS37996 nsv10340 3 150444772 150452575 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29114,nssv28953 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA18563 esv33598 3 150445844 150452412 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97580,essv101118,essv100864,essv95246,essv98017 M 51 0 5 "" 21616,21618,21656,21872,22259 dgv830n67 3 150446001 150452395 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822286,nsv822288 M 31 0 7 "" AK10,AK20,AK6,NA18526,NA18542,NA18997,NA18999 nsv442878 3 150446084 150450807 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv620n27 3 150446085 150450025 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460887,nsv460891,nsv460889,nsv460888,nsv460890,nsv460892 M 1557 0 6 "" 1788485588_A,HGDP00267,HGDP00288,HGDP00304,HGDP00464,HGDP00545 esv2422178 3 150446085 150450811 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5014875,essv5010803,essv5139474,essv5044713,essv5002290,essv5030501,essv5125026,essv5004699,essv5002929,essv5099309,essv5053743,essv5122096,essv5131178,essv5029305,essv5145699,essv5065228,essv5078330,essv5033662,essv5156238,essv5139780,essv5053821,essv5133071,essv5044888,essv5026341,essv5145814,essv5152257,essv5023063,essv5132004,essv5154213,essv5090733,essv5067578,essv5133860,essv5051013,essv5059925,essv5085999,essv5023341,essv5004609,essv5068867,essv5008214,essv5077459,essv5004161,essv5051386,essv5030390,essv5129363,essv5130027,essv5117095,essv5074043,essv5050720,essv5108800,essv5006324,essv5087913,essv5136754,essv5116243,essv5052523,essv5080639,essv5030940,essv5095869,essv5073632,essv5067143,essv5051478,essv5005728,essv5069708,essv5086036,essv5117592,essv5154845 M 1184 0 65 "" NA06985,NA07022,NA10863,NA10864,NA11882,NA11893,NA12057,NA12234,NA12752,NA12760,NA12762,NA17962,NA17972,NA17981,NA18101,NA18112,NA18125,NA18127,NA18132,NA18144,NA18162,NA18526,NA18542,NA18562,NA18563,NA18576,NA18602,NA18613,NA18620,NA18630,NA18704,NA18943,NA18945,NA18956,NA18966,NA18970,NA18997,NA18999,NA19002,NA19009,NA19058,NA19064,NA19076,NA19079,NA19088,NA19117,NA19321,NA19436,NA19468,NA19681,NA19719,NA19721,NA19780,NA19781,NA20342,NA20343,NA20540,NA20588,NA20786,NA20866,NA20909,NA20910,NA21098,NA21119,NA21723 nsv514174 3 150446096 150450672 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627610 S 1414 0 1 "" esv26022 3 150446304 150452401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15202 S 451 0 1 "" NA06985 nsv437887 3 150447382 150450025 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471407,nssv471408 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA12234 nsv460893 3 150449377 150450025 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537375 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00472 nsv877641 3 150472090 150523336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518503 S 6533 1 0 TM4SF18 SP57651 nsv516998 3 150499132 150500084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653576,nssv662024,nssv658502 M 2026 0 3 "" nsv512814 3 150580527 150581283 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625449 S 1 1 0 "" 1 esv1009027 3 150580604 150581764 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564403 S 3 1 0 "" HuRef esv1202095 3 150580693 150580693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946575 S 2 1 0 "" HuRef esv267568 3 150625047 150625134 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526238,essv2523394,essv2554211,essv2564539,essv2553524,essv2520136,essv2535975,essv2524875 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11918,NA12004,NA12287,NA12751,NA12763,NA12815 esv29983 3 150633992 150684992 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84222 S 2 1 0 TM4SF4 HuRef nsv4056 3 150641873 150686179 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2422 S 9 0 1 TM4SF4 NA18555 esv2586408 3 150713270 150715241 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354024 S 1 0 1 "" NA18507 nsv522752 3 150732974 150733279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698388 S 2026 0 1 WWTR1 nsv518493 3 150738005 150740756 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695933 S 2026 0 1 WWTR1 esv2483367 3 150750581 150753567 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190636 S 1 0 1 WWTR1 NA18507 esv2311493 3 150750985 150753034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751926 S 1 0 1 WWTR1 NA18507 dgv831n67 3 150751024 150752818 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822289,nsv822290 M 31 0 13 WWTR1 AK10,AK6,AK8,NA18537,NA18542,NA18564,NA18942,NA18947,NA18949,NA18969,NA18972,NA18997,NA18999 esv25506 3 150751025 150752792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19585 S 451 0 10 WWTR1 NA12006,NA15510,NA18508,NA18517,NA18909,NA18916,NA19099,NA19108,NA19190,NA19257 nsv237898 3 150751162 150752836 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256476 M 24 WWTR1 esv996267 3 150751163 150752837 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583610 S 3 0 1 WWTR1 HuRef nsv819268 3 150751220 150752863 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419298 S 2 0 1 WWTR1 AK1 nsv877642 3 150813962 150967983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548692 S 6533 1 0 ANKUB1,COMMD2,WWTR1,WWTR1-AS1 MS17878 nsv525253 3 150827305 150845282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701348 S 2026 0 1 WWTR1 esv34142 3 150832871 151256906 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ANKUB1,COMMD2,LOC646903,PFN2,RNF13,WWTR1,WWTR1-AS1 nsv829754 3 150854714 150998744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443114 S 95 1 0 ANKUB1,COMMD2,WWTR1,WWTR1-AS1 esv271645 3 150861179 150862605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502486,essv2512831 M 157 2 0 Samples from several populations that are part of the HapMap project. WWTR1,WWTR1-AS1 NA18948,NA18980 nsv4057 3 150866676 150900986 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3110 S 9 1 0 WWTR1 NA18555 esv1145264 3 150965077 150965077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215998 S 2 1 0 ANKUB1 HuRef esv2597752 3 151015210 151016568 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199918 S 1 0 1 RNF13 NA18507 nsv877643 3 151027048 151176764 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532772 S 6533 1 0 LOC646903,PFN2,RNF13 MS10840 nsv877644 3 151048672 151139736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596835 S 6533 0 1 RNF13 IS40657 esv993688 3 151076376 151076376 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584654 S 3 1 0 RNF13 HuRef esv1516102 3 151076377 151076377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238105 S 2 1 0 RNF13 HuRef esv268068 3 151240972 151241256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512558,essv2496504,essv2506191,essv2494119,essv2506897 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18523,NA18871,NA19102 nsv507128 3 151329059 151335059 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621724 S 4 1 0 "" NA10860 esv995999 3 151335878 151335878 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570317 S 3 1 0 "" HuRef esv274930 3 151341340 151345131 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586074 S 1250 0 1 "" nsv4058 3 151348936 151373038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9630 S 9 1 0 "" NA18507 esv2469181 3 151360065 151361596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348576 S 1 0 1 "" NA18507 esv1990318 3 151360574 151361260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567943 S 1 0 1 "" NA18507 esv8256 3 151360753 151361061 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30697 S 1 0 1 "" SJK nsv236206 3 151360758 151361065 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254784 M 24 "" nsv4059 3 151367832 151376979 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7880 S 9 0 1 "" NA12156 nsv818176 3 151379074 151383016 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417547 S 112 0 1 "" NA18971 esv2500362 3 151381328 151382661 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211093 S 1 0 1 "" NA18507 esv1008331 3 151381749 151381749 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578324 S 3 1 0 "" HuRef esv1434408 3 151381775 151381775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663390 S 2 1 0 "" HuRef nsv4060 3 151388082 151432556 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2423 S 9 0 1 "" NA18555 nsv829755 3 151474713 151638691 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443115 S 95 0 1 TSC22D2 nsv523838 3 151538251 151538731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699670 S 2026 0 1 "" nsv877645 3 151585825 151695388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546076 S 6533 0 1 TSC22D2 MS17114 esv29861 3 151607264 151611175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14316 S 451 0 1 TSC22D2 NA12156 nsv822291 3 151625836 151631247 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421615 S 31 1 0 TSC22D2 NA18997 nsv511101 3 151665344 151767058 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618604 S 4 0 0 EIF2A,SERP1 CHM nsv507129 3 151725511 151731511 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622873,nssv620230,nssv621725 M 4 3 0 "" NA10860,NA15510,NA18994 nsv507130 3 151756031 151762031 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621726 S 4 1 0 EIF2A NA10860 nsv4061 3 151921110 151953026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4689 S 9 1 0 SIAH2 NA19129 esv25944 3 151963258 151963983 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12398 S 451 0 1 SIAH2 NA07045 nsv818177 3 152024053 152049112 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417845 S 112 0 1 "" NA18853 nsv877646 3 152065682 152123994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571703 S 6533 0 1 "" IS32787 nsv877647 3 152092384 152123994 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548693 S 6533 1 0 "" MS17878 nsv4062 3 152100135 152117856 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7881 S 9 0 1 "" NA12156 esv275573 3 152129906 152130911 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585945,essv2585191 M 1250 1 1 CLRN1 nsv829756 3 152175326 152372428 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443116,nssv1443119,nssv1443117 M 95 1 2 CLRN1-AS1,MED12L dgv1520e1 3 152274315 152440175 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23860,esv356 M 271 0 0 CLRN1-AS1,GPR171,MED12L,P2RY14 NA07022 nsv877648 3 152275134 152377835 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548694 S 6533 1 0 CLRN1-AS1,MED12L MS17878 esv268677 3 152350473 152350689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516487 S 157 1 0 Samples from several populations that are part of the HapMap project. MED12L NA12814 nsv10341 3 152403734 152407486 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11494 S 31 0 1 Samples from several populations that are part of the HapMap project. MED12L NA10839 esv268436 3 152441501 152441586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518962 S 157 1 0 Samples from several populations that are part of the HapMap project. MED12L,P2RY14 NA19141 nsv829757 3 152527570 152709132 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443120 S 95 0 1 IGSF10,MED12L,P2RY12,P2RY13 esv2400186 3 152568976 152569360 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746200 S 1 0 1 MED12L,P2RY12 NA18507 esv1169457 3 152569149 152569214 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838827 S 2 0 1 MED12L,P2RY12 HuRef nsv4063 3 152609403 152644880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv339,nssv10367,nssv4690,nssv7882 M 9 4 0 IGSF10,MED12L NA12156,NA18956,NA19129,NA19240 esv999811 3 152616297 152633225 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564292 S 3 1 0 MED12L HuRef nsv508960 3 152625749 152644456 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620773,nssv618022,nssv623389,nssv619341 M 4 4 0 IGSF10,MED12L CHM,NA10860,NA15510,NA18994 nsv877649 3 152630658 152719252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597182 S 6533 0 1 IGSF10,MED12L IS40759 esv270416 3 152631213 152631298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514629,essv2517473,essv2517031,essv2518681,essv2514735,essv2515418,essv2518544,essv2516408,essv2515724,essv2517989,essv2515893,essv2517749,essv2516211,essv2516868,essv2513866,essv2515206,essv2518891,essv2518364,essv2519472,essv2513738 M 157 20 0 Samples from several populations that are part of the HapMap project. MED12L NA07346,NA07347,NA11840,NA11918,NA11931,NA12045,NA12234,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA19143,NA19238,NA19239,NA19240 esv273729 3 152631216 152637289 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581994,essv2582443,essv2583013,essv2583986,essv2584757,essv2583330 M 7 6 0 Samples from several populations that are part of the HapMap project. IGSF10,MED12L NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv877650 3 152656700 152797139 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548695 S 6533 1 0 IGSF10 MS17878 nsv819466 3 152679324 152702656 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418690 S 2 0 1 "" AK1 nsv528372 3 152692880 152700967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704959 S 2026 0 1 "" nsv237673 3 152758487 152758487 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256251 M 24 "" esv995677 3 152758504 152758505 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570477 S 3 1 0 "" HuRef nsv238007 3 152758505 152758505 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256585 M 24 "" nsv4064 3 152780877 152853676 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7883,nssv7884 M 9 0 1 MIR548H2 NA12156 esv32886 3 152851393 152851567 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96813 S 51 1 0 MIR548H2 21659 nsv511102 3 152857240 152941082 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624289,nssv621566,nssv622363 M 4 0 0 AADACL2,MIR548H2 NA10860,NA15510,NA18994 nsv4066 3 152857818 152888616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv340,nssv2424,nssv11069,nssv3208,nssv10368,nssv7040,nssv4691 M 9 7 0 MIR548H2 NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv244 3 152863386 152888616 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv244 S 1 1 0 MIR548H2 NA15510 esv1004315 3 152864248 152867816 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563654 S 3 1 0 MIR548H2 HuRef esv33759 3 152881925 152891960 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94050,essv99267 M 51 2 0 MIR548H2 21802,22275 nsv522472 3 152944075 153064885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705836 S 2026 0 1 AADAC,AADACL2,LOC201651,MIR548H2 nsv877651 3 152948243 152997280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544818 S 6533 0 1 AADACL2,LOC201651,MIR548H2 MS16531 dgv1521e1 3 152957970 153145865 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24674,esv554 M 271 0 0 AADAC,AADACL2,LOC201651,MIR548H2,SUCNR1 NA11829 essv20845 3 152984767 153025991 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AADAC,LOC201651,MIR548H2 NA11829 nsv517155 3 152992947 153028731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653372,nssv653926,nssv684424,nssv663926,nssv680976,nssv667901,nssv665549,nssv674220,nssv681567,nssv656462,nssv662629,nssv670149,nssv654575,nssv682151,nssv665336,nssv682732,nssv658456,nssv660490,nssv685121,nssv662124,nssv663219,nssv682205,nssv663106,nssv668991,nssv659090,nssv658351,nssv678031,nssv693150,nssv670027,nssv665692,nssv653888,nssv678327,nssv679762 M 2026 0 33 AADAC,MIR548H2 dgv5276n71 3 152992947 153037439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877652,nsv877653 M 6533 0 8 AADAC,MIR548H2 IS31070,IS36258,IS37704,IS38457,IS40267,IS40416,IS40665,MS10517 dgv621n27 3 152992947 153037439 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460896,nsv460902,nsv460907,nsv460898,nsv460905,nsv460897,nsv460900,nsv460901,nsv460903,nsv460910,nsv460904 M 1557 0 11 AADAC,MIR548H2 1780854058_A,1780854295_A,1780854354_A,1780854573_A,1798860292_A,1798860306_A,HGDP01373,NINDS_113,NINDS_240,NINDS_251,NINDS_268 nsv877654 3 152993775 153056976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592539 S 6533 0 1 AADAC,MIR548H2 IS39243 esv25716 3 152994179 153033690 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21305 S 451 0 2 AADAC,MIR548H2 NA12287,NA12489 nsv514175 3 152994208 153032960 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627611 S 1414 0 1 AADAC,MIR548H2 dgv622n27 3 152997280 153077559 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460908,nsv460909 M 1557 0 2 AADAC,MIR548H2,SUCNR1 1780862401_A,NINDS_204 nsv877655 3 153014584 153037439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571224 S 6533 0 1 AADAC,MIR548H2 IS32651 nsv877656 3 153028731 153088298 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548696 S 6533 1 0 AADAC,SUCNR1 MS17878 nsv829758 3 153050223 153205949 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443121 S 95 1 0 SUCNR1 nsv4067 3 153080403 153110608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv341 S 9 1 0 SUCNR1 NA19240 dgv5277n71 3 153114388 153227590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877657,nsv877658 M 6533 0 2 "" IS30597,IS37226 nsv4068 3 153164528 153181815 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3111 S 9 1 0 "" NA18555 esv268032 3 153170729 153176826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511041,essv2511446,essv2505085,essv2498343,essv2497782,essv2496104,essv2497878,essv2501449,essv2506917 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11920,NA11995,NA18526,NA18555,NA18603,NA18945,NA19093,NA19102 esv272671 3 153231495 153231843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581811,essv2582293,essv2582909 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv267420 3 153231496 153231842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558127,essv2565737,essv2575817,essv2571704,essv2521107,essv2525838,essv2523063,essv2570495,essv2548372,essv2521673,essv2576546,essv2525464,essv2550314,essv2554330,essv2544286,essv2520362,essv2547562,essv2529072,essv2558512,essv2564587,essv2559744,essv2564011,essv2554965,essv2537311,essv2528249,essv2546773,essv2520806,essv2561654,essv2523885,essv2552924,essv2541141,essv2542748,essv2540290,essv2519728,essv2567422,essv2563768,essv2535613,essv2573010,essv2527669,essv2531627,essv2573413,essv2577184,essv2529488,essv2574733,essv2572781,essv2568686,essv2548993,essv2533329,essv2554535,essv2547688,essv2525109,essv2563497 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11840,NA11894,NA11918,NA11931,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12776,NA12828,NA12872,NA12878,NA12891,NA12892,NA18498,NA18523,NA18537,NA18542,NA18545,NA18550,NA18552,NA18566,NA18582,NA18603,NA18608,NA18942,NA18952,NA18961,NA18964,NA18970,NA19093,NA19138,NA19143,NA19147 esv2529213 3 153231815 153233144 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319709 S 1 0 1 "" NA18507 dgv832n67 3 153247213 153247975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822292,nsv822293 M 31 0 4 "" AK8,NA18537,NA18566,NA18947 nsv822294 3 153247450 153247975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438077,nssv1430494,nssv1428963,nssv1436505 M 31 0 4 "" AK12,AK16,NA18542,NA18951 nsv236777 3 153247621 153248060 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255355 M 24 "" nsv520986 3 153253999 153258669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693381,nssv679201 M 2026 0 2 "" nsv524190 3 153300907 153333173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700073 S 2026 0 1 "" nsv4069 3 153341109 153373348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2425 S 9 1 0 "" NA18555 nsv877659 3 153419922 153545322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579396,nssv1569532 M 6533 0 2 LOC401093,MBNL1,TMEM14E IS31617,IS35100 esv1007938 3 153429541 153429628 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578639 S 3 0 1 "" HuRef esv1790143 3 153429616 153429704 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980312 S 2 0 1 "" HuRef dgv5278n71 3 153482619 153644737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877660,nsv877661 M 6533 0 2 MBNL1,TMEM14E IS31137,MS17114 esv28760 3 153524892 153525812 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16288 S 451 0 2 MBNL1 NA18907,NA19147 esv1004210 3 153525307 153525812 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586164 S 3 0 1 MBNL1 HuRef esv268705 3 153536626 153536872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542228,essv2522989,essv2544121,essv2545523,essv2531834,essv2521571,essv2550744,essv2535347,essv2564502,essv2555047,essv2537945,essv2554399,essv2524931 M 157 13 0 Samples from several populations that are part of the HapMap project. MBNL1 NA07000,NA07346,NA07357,NA11919,NA11931,NA11992,NA12003,NA12006,NA12144,NA12155,NA12249,NA12751,NA12872 esv8219 3 153594258 153594350 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30660 S 1 1 0 MBNL1 SJK esv273140 3 153628368 153628453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581608 S 7 1 0 Samples from several populations that are part of the HapMap project. MBNL1 NA12878 dgv302n21 3 153739434 153744170 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522172,nsv525095 M 2026 0 2 "" nsv822295 3 153750845 153752358 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428964 S 31 1 0 "" AK12 esv2568701 3 153779849 153781276 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335391 S 1 0 1 "" NA18507 esv990765 3 153786114 153790128 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565752 S 3 0 1 "" HuRef nsv4070 3 153786945 153831753 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7885 S 9 0 1 "" NA12156 esv2608825 3 153793873 153796625 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315439 S 1 0 1 "" NA18507 esv2230998 3 153794225 153796052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814165 S 1 0 1 "" NA18507 esv3211 3 153794286 153795935 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25652 S 1 0 1 Single Asian sample YH "" YH nsv513088 3 153794302 153796051 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626575 S 1 0 1 "" 1 nsv237382 3 153794414 153795845 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255960 M 24 "" esv996861 3 153794418 153795849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582089 S 3 0 1 "" HuRef esv1774927 3 153794428 153795860 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254777 S 2 0 1 "" HuRef esv6247 3 153794429 153795841 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28688 S 1 0 1 "" SJK nsv829761 3 153805531 153839330 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443122,nssv1443124,nssv1443123 M 95 1 2 "" dgv1522e1 3 153811696 154007843 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1415,essv18790 M 271 0 0 "" NA12891 dgv5279n71 3 153820308 153858286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877662,nsv877663 M 6533 0 2 "" IS38646,IS41292 nsv437856 3 153826065 153841274 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467737 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10860 nsv514176 3 153829760 153838160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627612 S 1414 0 1 "" esv2421761 3 153829784 153838892 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150987,essv5055697,essv5072743,essv5011244,essv5113470,essv5126954,essv5075927,essv5150846,essv5116857,essv5107504,essv5090161,essv5042174,essv5006037,essv5009944,essv5040874,essv5034244,essv5088518,essv5038141,essv5155729,essv5099236 M 1184 0 20 "" NA11992,NA18561,NA18953,NA20858,NA20862,NA20869,NA20871,NA20890,NA20892,NA20897,NA20903,NA20909,NA20910,NA21089,NA21101,NA21104,NA21109,NA21112,NA21123,NA21142 nsv441843 3 153829784 153838892 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516334 3 153830172 153837935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692215,nssv690328,nssv672113,nssv698282,nssv667659,nssv677851,nssv675507,nssv675605,nssv672245,nssv675315 M 2026 0 10 "" nsv818179 3 153830172 153837935 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415829,nssv1417447,nssv1415830 M 112 0 3 "" NA10860,NA11992,NA18953 nsv437888 3 153833217 153837015 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471410,nssv471409 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10860,NA11992 nsv507131 3 153840464 153846464 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621727 S 4 1 0 "" NA10860 nsv877664 3 153861414 154015866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552249 S 6533 0 1 "" MS19303 essv5630 3 153876452 154007843 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18579 nsv508961 3 153893803 153895727 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623390 S 4 1 0 "" NA18994 esv1774335 3 153894653 153894653 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058990 S 2 1 0 "" HuRef esv1296296 3 153895209 153895358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011469 S 2 0 1 "" HuRef esv34910 3 153907992 153970992 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979607,essv6979608,essv6990386 M 771 1 0 "" NA18579 nsv509855 3 154070300 154076300 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623921 S 4 0 1 "" NA18994 esv1001279 3 154091465 154094713 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565104 S 3 1 0 "" HuRef nsv512815 3 154093893 154094132 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625450 S 1 1 0 "" 1 esv1493758 3 154094001 154094001 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971872 S 2 1 0 "" HuRef nsv522174 3 154094014 154094155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694946 S 2026 0 1 "" esv21562 3 154094014 154094708 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13280 S 451 1 0 "" NA18508 esv275308 3 154161656 154164183 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585171,essv2585348 M 1250 1 1 "" nsv428423 3 154165844 154336964 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454283,nssv454282 M 62 2 0 "" HGDP00986,NA19096 nsv4071 3 154181889 154192048 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10369 S 9 1 0 "" NA18956 nsv499401 3 154183968 154184020 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586415 S 9 1 0 "" nsv460912 3 154220008 154320729 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537391 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00862 nsv820284 3 154368132 154368436 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418560 S 2 1 0 RAP2B AK1 esv1593629 3 154501758 154501858 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043209 S 2 0 1 "" HuRef nsv519055 3 154502398 154526910 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696527 S 2026 0 1 "" nsv520682 3 154550493 154568516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689721,nssv674029,nssv687668,nssv690552 M 2026 0 4 "" nsv877665 3 154553822 154631980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544505 S 6533 0 1 "" MS16361 nsv877666 3 154556566 154608170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574708 S 6533 0 1 "" IS33616 dgv5280n71 3 154588602 154615237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877667,nsv877668 M 6533 0 7 "" IS31837,IS33832,IS33839,IS36219,MS17114,MS18847,MS18978 nsv460913 3 154656809 154703905 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537392 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3orf79 HGDP01156 nsv526058 3 154694531 154695022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702296 S 2026 0 1 C3orf79 nsv819135 3 154767378 154768356 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419145 S 2 0 1 "" AK1 esv271387 3 154779595 154779704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494185,essv2513489 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18907 nsv522158 3 154853356 154857668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694932 S 2026 0 1 "" esv1007741 3 154869016 154869074 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584671 S 3 0 1 "" HuRef esv1645162 3 154869018 154869077 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029696 S 2 0 1 "" HuRef nsv877669 3 154877068 154913338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534634 S 6533 0 1 "" MS11703 nsv521905 3 154891485 154899174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694677 S 2026 0 1 "" esv26115 3 154947730 154952882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20170 S 451 0 1 "" NA18907 nsv517101 3 154948532 154954853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661446,nssv656149,nssv690017,nssv688207,nssv653789 M 2026 0 5 "" nsv877670 3 154960804 155019394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598996 S 6533 0 1 "" IS41113 nsv521941 3 155009791 155033267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694709 S 2026 0 1 "" nsv516822 3 155056518 155063941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671192,nssv663413,nssv656614 M 2026 0 3 "" nsv822296 3 155081916 155096702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440271 S 31 0 1 "" NA18564 nsv877671 3 155093403 155195292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566457 S 6533 0 1 "" IS30742 esv269669 3 155126200 155126438 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505999 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18523 nsv877672 3 155136117 155207101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586611 S 6533 0 1 "" IS37884 nsv877673 3 155174639 155234829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542172 S 6533 0 1 ARHGEF26-AS1 MS15704 esv2395427 3 155175980 155176362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916207 S 1 0 1 "" NA18507 nsv4072 3 155358192 155385439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv343 S 9 1 0 ARHGEF26 NA19240 nsv508962 3 155364000 155387279 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623391,nssv620774,nssv618023,nssv619342 M 4 4 0 ARHGEF26 CHM,NA10860,NA15510,NA18994 esv1003556 3 155380030 155381118 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565260 S 3 1 0 ARHGEF26 HuRef esv1286199 3 155381098 155381098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612648 S 2 1 0 ARHGEF26 HuRef nsv4073 3 155513980 155545535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7041 S 9 1 0 DHX36,GPR149 NA12156 esv2640775 3 155578849 155580568 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283051 S 1 0 1 GPR149 NA18507 esv1948933 3 155579232 155579948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4988911 S 1 0 1 GPR149 NA18507 esv1340831 3 155579427 155579747 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103839 S 2 0 1 GPR149 HuRef esv5849 3 155579437 155579750 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28290 S 1 0 1 GPR149 SJK nsv877674 3 155725100 155854857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564017 S 6533 0 1 "" IS30146 dgv1523e1 3 155740963 156041417 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14469,essv14575,esv100 M 271 0 0 "" NA19201,NA19202 nsv470960 3 155774667 155918890 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544454 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00941 nsv523376 3 155800223 155918890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699125 S 2026 0 1 "" nsv460914 3 155817656 155937223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537393 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00941 nsv877675 3 155937223 156034618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548697 S 6533 1 0 "" MS17878 nsv877676 3 155994806 156101213 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567931 S 6533 0 1 "" IS31179 nsv10342 3 156042066 156044195 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28969,nssv28700,nssv11524,nssv28694,nssv11731,nssv29144,nssv11604,nssv29123 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA12872,NA18563,NA18942,NA18975,NA19007,NA19240 nsv822297 3 156058677 156061062 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435790 S 31 1 0 "" NA18566 nsv822299 3 156060619 156061062 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436506 S 31 1 0 "" NA18542 esv2605540 3 156130319 156131781 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218809 S 1 0 1 "" NA18507 nsv513089 3 156130588 156133259 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626577 S 1 0 1 "" 1 esv2390096 3 156130863 156131576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584740 S 1 0 1 "" NA18507 nsv237727 3 156131068 156131388 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256305 M 24 "" nsv877677 3 156314916 156383899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589321 S 6533 0 1 MME IS38337 nsv877678 3 156343602 156377499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513827 S 6533 0 1 MME SP55851 nsv829762 3 156362044 156535680 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443125 S 95 1 0 LOC100507537,MME nsv508963 3 156501872 156567319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623392 S 4 1 0 "" NA18994 nsv4074 3 156502178 156529491 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv344 S 9 1 0 "" NA19240 esv268531 3 156523322 156523548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510252,essv2506761,essv2495473,essv2502330,essv2508087,essv2501691,essv2512262,essv2502920,essv2513184,essv2495845,essv2503395,essv2508498,essv2503863,essv2493433,essv2493371,essv2502846,essv2511889,essv2509917,essv2493749,essv2498285,essv2500394,essv2503282,essv2497287,essv2512997,essv2494568,essv2497201,essv2497742,essv2499944,essv2507903,essv2500605,essv2500114,essv2507676,essv2512645,essv2508119,essv2508454,essv2496079,essv2499234,essv2512866,essv2507448,essv2505255,essv2513272,essv2495703,essv2511661,essv2504930,essv2511098,essv2505463,essv2500569,essv2495959,essv2502639,essv2500784,essv2501226,essv2504702,essv2506960,essv2499209,essv2510918,essv2493541,essv2512181,essv2498186,essv2503587,essv2495743,essv2511508,essv2504358,essv2513066 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA07347,NA10847,NA10851,NA11918,NA11919,NA12004,NA12045,NA12144,NA12155,NA12156,NA12249,NA12489,NA12716,NA12717,NA12761,NA12763,NA12776,NA12892,NA18499,NA18508,NA18517,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18564,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18603,NA18605,NA18609,NA18638,NA18853,NA18907,NA18916,NA18940,NA18942,NA18944,NA18952,NA18956,NA18961,NA18965,NA18973,NA19093,NA19099,NA19102,NA19114,NA19116,NA19137,NA19238,NA19240 esv272356 3 156523325 156523536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580835,essv2579606 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv992664 3 156523368 156523368 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569601 S 3 1 0 "" HuRef nsv236488 3 156523370 156532253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255066 M 24 "" nsv4075 3 156546579 156593344 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7043,nssv2426 M 9 2 0 "" NA12156,NA18555 nsv877679 3 156611662 156687633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548698 S 6533 1 0 PLCH1 MS17878 nsv437889 3 156662868 156667744 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471419,nssv471421,nssv471413,nssv471422,nssv471415,nssv471414,nssv471416,nssv471411,nssv471420,nssv471417,nssv471425,nssv471418 M 269 0 12 Samples from several populations that are part of the HapMap project. "" NA18515,NA18516,NA18870,NA18872,NA19137,NA19139,NA19160,NA19161,NA19200,NA19202,NA19206,NA19208 esv2441511 3 156686415 156687885 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215876 S 1 0 1 PLCH1 NA18507 esv2205471 3 156819431 156819854 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783537 S 1 0 1 PLCH1 NA18507 dgv833n67 3 156820897 156826896 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822301,nsv822300 M 31 0 2 PLCH1 AK10,NA18999 esv273783 3 156865476 156865784 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579121,essv2579473 M 7 2 0 Samples from several populations that are part of the HapMap project. PLCH1 NA19239,NA19240 esv269011 3 156865529 156865868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516658,essv2514149,essv2515624,essv2516908 M 157 4 0 Samples from several populations that are part of the HapMap project. PLCH1 NA11881,NA12043,NA12815,NA12892 esv1067146 3 156868410 156868410 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751618 S 2 1 0 PLCH1 HuRef esv2587266 3 156893091 156894853 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336250 S 1 0 1 PLCH1 NA18507 esv1964556 3 156893527 156894156 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629714 S 1 0 1 PLCH1 NA18507 esv1066703 3 156893667 156893992 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842489 S 2 0 1 PLCH1 HuRef esv7423 3 156893668 156893983 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29864 S 1 0 1 PLCH1 SJK nsv829763 3 156900246 156952773 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443126 S 95 1 0 PLCH1 nsv877680 3 156920716 157205758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522152 S 6533 1 0 C3orf33,GMPS,SLC33A1 SP52751 dgv303n21 3 156948185 156949763 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526490,nsv521244 M 2026 2 0 "" esv25006 3 156961941 156995468 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14416 S 451 1 0 C3orf33 NA07045 nsv514997 3 156963760 156974432 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628492 S 1414 0 0 C3orf33 nsv441844 3 156963790 156974871 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C3orf33 esv33346 3 156963914 156981135 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98342 S 51 1 0 C3orf33 22352 nsv516712 3 156964303 156976609 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676694,nssv656615,nssv671193,nssv670320,nssv680295,nssv689245 M 2026 6 0 C3orf33 nsv818180 3 156964303 156976609 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416045,nssv1416627,nssv1416638 M 112 3 0 C3orf33 NA10857,NA12043,NA12813 nsv819264 3 156967842 156968025 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419059 S 2 0 1 C3orf33 AK1 dgv1524e1 3 156967996 156973701 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23104,esv1088,essv23747 M 271 0 0 C3orf33 NA12043,NA12813 esv2081448 3 157013889 157014255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655252 S 1 0 1 "" NA18507 esv2525826 3 157014352 157014905 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261738 S 1 1 0 "" NA18507 nsv512816 3 157014386 157014906 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625451 S 1 1 0 "" 1 nsv877681 3 157018364 157136711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578666 S 6533 0 1 GMPS,SLC33A1 IS34856 esv2111719 3 157149099 157149497 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584798 S 1 0 1 "" NA18507 nsv521239 3 157238021 157245419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688030,nssv689096,nssv687412 M 2026 0 3 "" nsv4078 3 157302916 157322355 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3112 S 9 1 0 KCNAB1 NA18555 esv268340 3 157390096 157390215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504715 S 157 1 0 Samples from several populations that are part of the HapMap project. KCNAB1 NA19099 nsv877682 3 157502655 157560208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548699 S 6533 1 0 KCNAB1 MS17878 nsv4079 3 157518700 157552933 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3113 S 9 1 0 KCNAB1 NA18555 esv2620873 3 157574476 157577170 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255021 S 1 0 1 KCNAB1 NA18507 nsv513090 3 157574594 157576643 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626578 S 1 0 1 KCNAB1 1 esv2289616 3 157574722 157576487 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618303 S 1 0 1 KCNAB1 NA18507 esv28145 3 157574746 157576258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17278 S 451 0 25 KCNAB1 NA06985,NA07045,NA11993,NA11995,NA12239,NA12489,NA12828,NA12878,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv237787 3 157574869 157576385 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256365 M 24 KCNAB1 nsv822302 3 157574911 157576229 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438078,nssv1424893,nssv1436508,nssv1439051 M 31 0 4 KCNAB1 AK2,NA18542,NA18547,NA18951 esv2125528 3 157649043 157649469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721539 S 1 0 1 KCNAB1 NA18507 nsv829764 3 157657518 157830468 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443130,nssv1443127,nssv1443128 M 95 3 0 KCNAB1,SSR3 nsv877683 3 157663060 157755045 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548700 S 6533 1 0 KCNAB1,SSR3 MS17878 esv271077 3 157716533 157716707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504053,essv2509654,essv2501172,essv2505233,essv2494073,essv2495593,essv2502230 M 157 7 0 Samples from several populations that are part of the HapMap project. KCNAB1 NA18505,NA18508,NA18516,NA18853,NA18871,NA18916,NA19257 esv271162 3 157722548 157722870 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557940,essv2565694,essv2540980,essv2546609,essv2521315,essv2542376,essv2536582,essv2568411,essv2545273,essv2523317,essv2531920,essv2577432,essv2521588,essv2576852,essv2550703,essv2525487,essv2550453,essv2535010,essv2544268,essv2552081,essv2520332,essv2529204,essv2564479,essv2577798,essv2553811,essv2565334,essv2576276,essv2520122,essv2530793,essv2562133,essv2537277,essv2528488,essv2546814,essv2520983,essv2556890,essv2532148,essv2578611,essv2550017,essv2561439,essv2544763,essv2562971,essv2523598,essv2553012,essv2538243,essv2542834,essv2540345,essv2524367,essv2564993,essv2534628,essv2561088,essv2549458,essv2519796,essv2521964,essv2566189,essv2531040,essv2532820,essv2528936,essv2567314,essv2541854,essv2569896,essv2563604,essv2553142,essv2535828,essv2572301,essv2566776,essv2550913,essv2543548,essv2578413,essv2572977,essv2555402,essv2533613,essv2555782,essv2567118,essv2566579,essv2529959,essv2527466,essv2555925,essv2534253,essv2522515,essv2573726,essv2577010,essv2571975,essv2525637,essv2575672,essv2575035,essv2538759,essv2560711,essv2560899,essv2574699,essv2572823,essv2568507,essv2560443,essv2546076,essv2574443,essv2548830,essv2554748,essv2547686,essv2563393 M 157 98 0 Samples from several populations that are part of the HapMap project. KCNAB1 NA07037,NA07346,NA07347,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11919,NA11920,NA11995,NA12003,NA12004,NA12006,NA12043,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12749,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18501,NA18505,NA18510,NA18511,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18858,NA18870,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18960,NA18964,NA18970,NA18973,NA18980,NA19099,NA19102,NA19108,NA19116,NA19137,NA19138,NA19143,NA19147,NA19190,NA19239,NA19240 esv272880 3 157722555 157722875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582152,essv2582636,essv2583028,essv2584636,essv2583420 M 7 5 0 Samples from several populations that are part of the HapMap project. KCNAB1 NA12878,NA12891,NA12892,NA19239,NA19240 esv1546912 3 157722571 157722571 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835318 S 2 1 0 KCNAB1 HuRef nsv877684 3 157777681 157827519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570404 S 6533 0 1 "" IS31980 nsv877685 3 157927077 158094370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587371 S 6533 0 1 LEKR1,LOC730091,PA2G4P4 IS38030 nsv877686 3 157972203 158040391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558706 S 6533 0 1 LEKR1,LOC730091,PA2G4P4 MS23495 nsv829765 3 158050957 158201190 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443131 S 95 0 1 LEKR1 esv1226628 3 158099888 158099964 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813042 S 2 0 1 LEKR1 HuRef nsv829766 3 158294230 158503245 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443132,nssv1443133 M 95 2 0 CCNL1,LOC100498859,LOC339894,VEPH1 nsv520331 3 158340994 158398344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702488,nssv662968,nssv673876 M 2026 0 3 CCNL1 nsv819788 3 158352687 158353985 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419228 S 2 0 1 CCNL1 AK1 esv1988913 3 158400132 158400532 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968091 S 1 0 1 "" NA18507 nsv877687 3 158407487 158526878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585538 S 6533 0 1 VEPH1 IS37520 nsv4080 3 158447302 158457793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7886 S 9 1 0 "" NA12156 esv274040 3 158463942 158464216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579833,essv2580853,essv2579623 M 7 3 0 Samples from several populations that are part of the HapMap project. VEPH1 NA12892,NA19238,NA19240 esv270978 3 158463943 158464204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493227,essv2493971,essv2507418,essv2504756,essv2506694,essv2511959,essv2498207 M 157 7 0 Samples from several populations that are part of the HapMap project. VEPH1 NA18504,NA18871,NA18912,NA19099,NA19108,NA19238,NA19240 esv275099 3 158528886 158532546 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585212,essv2585802 M 1250 1 1 VEPH1 esv2582112 3 158564852 158566142 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225131 S 1 0 1 VEPH1 NA18507 dgv1525e1 3 158572860 158737378 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16320,esv59 M 271 0 0 PTX3,VEPH1 NA19193 nsv236425 3 158607170 158607170 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255003 M 24 VEPH1 esv32988 3 158683527 158692028 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94028 S 51 0 1 VEPH1 21802 esv1520536 3 158724190 158724190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955984 S 2 1 0 "" HuRef nsv829767 3 158789105 158973138 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443134 S 95 0 1 C3orf55 nsv4081 3 158801160 158830349 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9875 S 9 0 1 C3orf55 NA18507 esv2427927 3 158821191 158826268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314382 S 1 0 1 "" NA18507 nsv441845 3 158822082 158824376 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv269050 3 158851798 158852040 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556585,essv2523095,essv2554892,essv2551808,essv2532199,essv2562561,essv2569209,essv2578614,essv2536812,essv2527243,essv2541966,essv2543419,essv2556197,essv2539284,essv2529589,essv2575612,essv2538783,essv2524159,essv2574909,essv2530223,essv2568709,essv2560323,essv2548163,essv2551644 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA12004,NA12872,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18522,NA18856,NA18870,NA18871,NA18912,NA19093,NA19099,NA19108,NA19129,NA19138,NA19141,NA19147,NA19190,NA19210,NA19257 esv2549763 3 159010827 159012351 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260558 S 1 0 1 "" NA18507 nsv237294 3 159016981 159016981 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255872 M 24 "" nsv877688 3 159050657 159298074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548701 S 6533 1 0 SHOX2 MS17878 nsv509856 3 159275285 159281285 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618587 S 4 0 1 "" CHM nsv829768 3 159315572 159494764 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443135 S 95 1 0 RSRC1 esv8211 3 159333140 159333213 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30652 S 1 1 0 RSRC1 SJK esv274065 3 159336999 159339269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579936 S 7 1 0 Samples from several populations that are part of the HapMap project. RSRC1 NA12892 esv267789 3 159337000 159339204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493825,essv2509115,essv2505163,essv2501312,essv2497612,essv2512155,essv2503916 M 157 7 0 Samples from several populations that are part of the HapMap project. RSRC1 NA07037,NA18517,NA18522,NA18853,NA19093,NA19147,NA19238 nsv877689 3 159341624 159616001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553339 S 6533 0 1 RSRC1 MS19941 esv1640604 3 159429348 159429348 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674418 S 2 1 0 RSRC1 HuRef esv271638 3 159445592 159445938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517631,essv2517293,essv2513694 M 157 3 0 Samples from several populations that are part of the HapMap project. RSRC1 NA07347,NA12878,NA18970 esv274575 3 159445592 159445938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581531 S 7 1 0 Samples from several populations that are part of the HapMap project. RSRC1 NA12878 esv28868 3 159533729 159534881 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16257 S 451 0 1 RSRC1 NA12156 esv270915 3 159572513 159572605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544062,essv2550493,essv2547481,essv2577722,essv2559683,essv2554899 M 157 6 0 Samples from several populations that are part of the HapMap project. RSRC1 NA11992,NA12234,NA12717,NA12761,NA12776,NA12872 esv2502281 3 159598836 159600422 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357081 S 1 0 1 RSRC1 NA18507 esv2357327 3 159599428 159600134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583620 S 1 0 1 RSRC1 NA18507 esv6140 3 159599604 159599966 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28581 S 1 0 1 RSRC1 SJK nsv520244 3 159655099 159655286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685298,nssv662083 M 2026 0 2 RSRC1 nsv877690 3 159666957 159779610 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499172 S 6533 1 0 MLF1,RSRC1 SP50081 esv271278 3 159706216 159706555 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546337,essv2545435,essv2520927,essv2551672,essv2527295,essv2561687,essv2534510,essv2532841,essv2563702,essv2543675,essv2562156,essv2578229,essv2573221,essv2543124,essv2526512,essv2568717,essv2548091,essv2549048,essv2547977 M 157 19 0 Samples from several populations that are part of the HapMap project. RSRC1 NA07037,NA07347,NA11881,NA12003,NA18498,NA18504,NA18522,NA18523,NA18561,NA18576,NA18603,NA18870,NA18909,NA18940,NA18942,NA18965,NA19114,NA19147,NA19210 nsv877691 3 159728577 159842361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505774 S 6533 1 0 MLF1,RSRC1 SP53964 esv1007699 3 159745699 159752527 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564108 S 3 0 1 "" HuRef esv29341 3 159770225 159770980 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18632 S 451 0 1 "" NA12156 esv999299 3 159831154 159840851 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565517 S 3 0 1 "" HuRef esv2518941 3 159832449 159834758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301552 S 1 0 1 "" NA18507 esv1141426 3 159833434 159834606 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332768 S 2 0 1 "" HuRef nsv877692 3 159913400 160311337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585417 S 6533 0 1 IQCJ,IQCJ-SCHIP1,MFSD1,RARRES1 IS37450 nsv877693 3 159953015 160065698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499087 S 6533 1 0 MFSD1 SP50081 nsv470971 3 160073622 160640911 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544465 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IQCJ,IQCJ-SCHIP1,MIR3919,SCHIP1 HGDP00992 esv1963007 3 160184547 160184954 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818754 S 1 0 1 "" NA18507 esv1695650 3 160184732 160184781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312966 S 2 0 1 "" HuRef nsv877694 3 160219408 160272856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548702 S 6533 1 0 IQCJ,IQCJ-SCHIP1 MS17878 nsv437890 3 160257034 160274980 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471426 S 269 0 1 Samples from several populations that are part of the HapMap project. IQCJ,IQCJ-SCHIP1 NA07348 esv23950 3 160290937 160295791 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12151 S 451 0 2 IQCJ,IQCJ-SCHIP1 NA18517,NA19225 esv2421756 3 160291042 160294499 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5020895,essv5062306,essv5159934,essv5053304,essv5110700,essv5098669,essv5075963,essv5138015,essv5143807,essv5099445,essv5064986,essv5106875,essv5098848,essv5032382,essv5033089,essv5025970,essv5051240,essv5042468,essv5153338,essv5085496,essv5074794,essv5047411,essv5059289,essv5035868,essv5097808,essv5155575,essv5048218,essv5034776,essv5057299,essv5147426,essv5052227,essv5103093,essv5038060,essv5159267,essv5135129,essv5067592,essv5152660,essv5121039,essv5050995,essv5102570,essv5129689 M 1184 0 41 IQCJ,IQCJ-SCHIP1 NA18515,NA18517,NA18855,NA18857,NA19031,NA19046,NA19093,NA19094,NA19096,NA19097,NA19116,NA19131,NA19132,NA19184,NA19192,NA19203,NA19221,NA19222,NA19224,NA19225,NA19307,NA19328,NA19434,NA19438,NA19452,NA19714,NA19794,NA20294,NA20295,NA20342,NA20343,NA21363,NA21379,NA21408,NA21415,NA21417,NA21439,NA21447,NA21576,NA21608,NA21614 esv24169 3 160380903 160382766 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19452 S 451 0 1 IQCJ,IQCJ-SCHIP1 NA18909 esv2516721 3 160429898 160430672 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211164 S 1 1 0 IQCJ,IQCJ-SCHIP1 NA18507 esv259484 3 160506569 160506916 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394153,essv2393969,essv2393802,essv2394324 M 6 0 0 Samples from several populations that are part of the HapMap project. IQCJ-SCHIP1,SCHIP1 NA12878,NA12891,NA12892,NA19240 esv259680 3 160506578 160506921 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396744,essv2394773,essv2399019,essv2400262,essv2396565,essv2399103,essv2400887,essv2399817,essv2399974,essv2399711,essv2397325,essv2401043,essv2396917,essv2397701,essv2396617,essv2395696,essv2396051,essv2396334,essv2395489,essv2399563,essv2397167,essv2399864,essv2398849,essv2400401,essv2398932,essv2398989,essv2400156,essv2394409,essv2396192,essv2395863,essv2397483,essv2395424,essv2395130,essv2397372,essv2400538 M 144 0 0 Samples from several populations that are part of the HapMap project. IQCJ-SCHIP1,SCHIP1 NA07000,NA07357,NA10851,NA11829,NA11919,NA11920,NA11993,NA11994,NA12156,NA12828,NA12878,NA12891,NA12892,NA18502,NA18526,NA18532,NA18537,NA18558,NA18563,NA18570,NA18572,NA18573,NA18582,NA18592,NA18603,NA18605,NA18608,NA18943,NA18944,NA18945,NA18947,NA18948,NA18953,NA18980,NA19240 esv5498 3 160506651 160506715 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27939 S 1 1 0 IQCJ-SCHIP1,SCHIP1 SJK nsv877695 3 160634953 160737079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548703 S 6533 1 0 IQCJ-SCHIP1,SCHIP1 MS17878 nsv4082 3 160637853 160670829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3209 S 9 1 0 IQCJ-SCHIP1,SCHIP1 NA12878 dgv5281n71 3 160667263 160741818 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877697,nsv877696 M 6533 2 0 IQCJ-SCHIP1,SCHIP1 SP51025,SP52464 esv2644833 3 160722717 160724108 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364232 S 1 0 1 IQCJ-SCHIP1,SCHIP1 NA18507 nsv519199 3 160731517 160741818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696684 S 2026 0 1 IQCJ-SCHIP1,SCHIP1 nsv511197 3 160735446 160740655 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626521 S 1 0 1 IQCJ-SCHIP1,SCHIP1 1 nsv513091 3 160737581 160740447 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626579 S 1 0 1 IQCJ-SCHIP1,SCHIP1 1 nsv820265 3 160739588 160740563 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419140 S 2 1 0 IQCJ-SCHIP1,SCHIP1 AK1 dgv834n67 3 160739672 160740390 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822304,nsv822303 M 31 0 16 IQCJ-SCHIP1,SCHIP1 AK10,AK12,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18582,NA18951,NA18973,NA18999 nsv821438 3 160739672 160740390 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420346 S 1 0 1 IQCJ-SCHIP1,SCHIP1 NA10851 esv4370 3 160739673 160740485 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26811 S 1 0 1 Single Asian sample YH IQCJ-SCHIP1,SCHIP1 YH esv22799 3 160739714 160740336 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12710 S 451 37 0 IQCJ-SCHIP1,SCHIP1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv992343 3 160739715 160740383 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574782 S 3 0 1 IQCJ-SCHIP1,SCHIP1 HuRef nsv522248 3 160777808 160780730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695028 S 2026 0 1 IQCJ-SCHIP1,SCHIP1 esv2138340 3 160826452 160826887 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698675 S 1 0 1 IQCJ-SCHIP1,SCHIP1 NA18507 nsv4083 3 160845226 160897607 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4692,nssv7044 M 9 2 0 IQCJ-SCHIP1,SCHIP1 NA12156,NA19129 esv2560522 3 160910817 160912194 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378987 S 1 0 1 IQCJ-SCHIP1,SCHIP1 NA18507 esv1917039 3 160911481 160912079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987366 S 1 0 1 IQCJ-SCHIP1,SCHIP1 NA18507 esv993836 3 160911681 160911879 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576512 S 3 0 1 IQCJ-SCHIP1,SCHIP1 HuRef esv1616680 3 160911694 160911893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804495 S 2 0 1 IQCJ-SCHIP1,SCHIP1 HuRef esv24925 3 160944101 160946094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14119 S 451 0 1 IQCJ-SCHIP1,SCHIP1 NA12878 nsv818181 3 160944150 160948900 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416144,nssv1416143 M 112 0 2 IQCJ-SCHIP1,SCHIP1 NA12878,NA12892 nsv4084 3 160975182 160995945 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7887 S 9 0 1 IQCJ-SCHIP1,SCHIP1 NA12156 nsv4085 3 161022588 161056660 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7888 S 9 1 0 IQCJ-SCHIP1,SCHIP1 NA12156 nsv877698 3 161066212 161122846 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505240 S 6533 1 0 IQCJ-SCHIP1,SCHIP1 SP53333 esv23556 3 161071550 161072267 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21294 S 451 0 6 IQCJ-SCHIP1,SCHIP1 NA07037,NA12156,NA12414,NA18502,NA19108,NA19240 esv259860 3 161071842 161072270 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399055,essv2398069,essv2397967 M 144 0 0 Samples from several populations that are part of the HapMap project. IQCJ-SCHIP1,SCHIP1 NA10851,NA12144,NA12751 nsv829769 3 161089607 161287976 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443136 S 95 1 0 IL12A,IQCJ-SCHIP1,SCHIP1 nsv4086 3 161095215 161140474 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7889 S 9 0 1 IQCJ-SCHIP1,SCHIP1 NA12156 nsv4087 3 161097018 161130257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7890 S 9 1 0 IQCJ-SCHIP1,SCHIP1 NA12156 nsv521069 3 161263067 161265226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697767 S 2026 0 1 "" esv24820 3 161276735 161297660 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13734 S 451 1 0 "" NA11993 nsv819439 3 161283341 161298462 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418652 S 2 0 1 "" AK1 nsv507132 3 161284428 161290428 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622874,nssv620231,nssv617616 M 4 3 0 "" CHM,NA15510,NA18994 nsv877699 3 161303182 161458965 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548704 S 6533 1 0 C3orf80,IFT80 MS17878 esv24661 3 161359395 161359873 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18962 S 451 0 1 "" NA19147 nsv822305 3 161599839 161600289 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434339 S 31 1 0 IFT80,SMC4 NA18570 nsv822306 3 161635743 161640042 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433567 S 31 1 0 TRIM59 NA18526 nsv877700 3 161705866 161731057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499868 S 6533 0 1 KPNA4,SCARNA7 SP50120 nsv877701 3 161710695 161766509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513928 S 6533 0 1 KPNA4,SCARNA7 SP55878 esv25090 3 161716791 161718446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10081 S 451 0 2 KPNA4 NA18909,NA19114 nsv877702 3 161745497 161787308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518125 S 6533 0 1 KPNA4 SP57469 nsv4089 3 161767542 161812718 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7891 S 9 0 1 "" NA12156 nsv877703 3 161808152 161881579 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548705 S 6533 1 0 ARL14 MS17878 essv4314 3 161833715 161841503 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18564 dgv1526e1 3 161833715 161862855 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2913,esv978 M 271 0 0 "" NA19007 nsv10343 3 161838314 161849318 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29153,nssv11628 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18564,NA19007 nsv822307 3 161838535 161848924 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431230,nssv1440274 M 31 0 2 "" AK18,NA18564 nsv441846 3 161839634 161841803 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv34627 3 161839634 161841992 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988233,essv6979737 M 771 0 1 "" NA18620 esv2421521 3 161839634 161844979 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152451,essv5113067,essv5084296,essv5069846,essv5145797,essv5081836,essv5055449,essv5056366,essv5149044,essv5150340,essv5104281,essv5142580,essv5103958 M 1184 0 13 "" NA17969,NA17987,NA18135,NA18158,NA18162,NA18534,NA18564,NA18620,NA18639,NA19007,NA19072,NA19079,NA19080 nsv822308 3 161861288 161864514 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440981 S 31 1 0 "" NA18969 esv2476287 3 162003332 162004780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318945 S 1 0 1 PPM1L NA18507 esv2121069 3 162003767 162004203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708662 S 1 0 1 PPM1L NA18507 esv994945 3 162003836 162003987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583229 S 3 0 1 PPM1L HuRef esv1469152 3 162015031 162015095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202841 S 2 0 1 PPM1L HuRef esv2647987 3 162021497 162022882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387562 S 1 0 1 PPM1L NA18507 esv269656 3 162027728 162028055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504733 S 157 1 0 Samples from several populations that are part of the HapMap project. PPM1L NA19099 esv32963 3 162037932 162085810 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96995 S 51 1 0 PPM1L 21817 esv2519831 3 162100525 162102000 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350359 S 1 0 1 PPM1L NA18507 nsv519474 3 162102899 162112961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696872 S 2026 0 1 PPM1L esv1495071 3 162145233 162145233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095513 S 2 1 0 PPM1L HuRef nsv507133 3 162145382 162151382 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617617 S 4 1 0 PPM1L CHM esv24553 3 162162965 162168685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16422 S 451 0 1 PPM1L NA12489 nsv517658 3 162164308 162167414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689709,nssv664926,nssv668514,nssv693014,nssv669728,nssv652722 M 2026 0 6 PPM1L nsv518915 3 162206058 162207627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696375 S 2026 0 1 PPM1L nsv877704 3 162289553 162318700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506580 S 6533 0 1 B3GALNT1 SP54381 nsv877705 3 162300882 162318700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503800 S 6533 1 0 B3GALNT1 SP52113 nsv877706 3 162302869 162309098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510684 S 6533 0 1 B3GALNT1 SP54988 nsv877707 3 162302869 162318700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508899,nssv1508945 M 6533 0 2 B3GALNT1 SP54657,SP54672 dgv5282n71 3 162304663 162309098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877708,nsv877709 M 6533 0 2 B3GALNT1 SP51307,SP54725 nsv4090 3 162337428 162369528 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7045,nssv345 M 9 2 0 "" NA12156,NA19240 esv2637131 3 162355858 162357093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261193 S 1 0 1 "" NA18507 nsv507134 3 162361790 162367790 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621728 S 4 1 0 "" NA10860 esv23683 3 162455402 162456186 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10202 S 451 0 1 "" NA19129 nsv829770 3 162472267 162551917 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443137 S 95 1 0 SPTSSB nsv4091 3 162501234 162546569 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7046 S 9 0 1 SPTSSB NA12156 nsv829772 3 162530511 162685248 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443139,nssv1443138 M 95 1 1 SPTSSB nsv877710 3 162570551 162728108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569147 S 6533 1 0 OTOL1,SPTSSB IS31445 nsv518101 3 162584791 162585555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695514 S 2026 0 1 "" nsv524747 3 162603177 162606220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700738 S 2026 0 1 "" nsv829773 3 162633116 162797883 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443141 S 95 1 0 OTOL1 nsv520499 3 162676019 162678423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697456 S 2026 0 1 "" nsv829774 3 162712099 162869613 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443142 S 95 1 0 "" esv2422309 3 162725083 162908626 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161276 S 181 0 1 "" ND03970 esv2423827 3 162728694 162730223 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318014 S 1 0 1 "" NA18507 esv2148992 3 162729209 162729950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995314 S 1 0 1 "" NA18507 esv5214 3 162729370 162729808 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27655 S 1 0 1 Single Asian sample YH "" YH esv9462 3 162729419 162729740 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31903 S 1 0 1 "" SJK esv2569936 3 162729420 162729754 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341636 S 1 0 1 "" NA18507 nsv877711 3 162758542 162969359 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548706 S 6533 1 0 "" MS17878 nsv515615 3 162887788 163046478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672159,nssv688972,nssv679782,nssv664110,nssv690533,nssv695607 M 2026 0 6 "" nsv460916 3 162903816 163035704 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537394 S 1557 0 1 "" NINDS_181 dgv1527e1 3 162932687 163076464 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10761,esv302,essv21731 M 271 0 0 "" NA12248,NA18523 nsv877712 3 162941844 162995267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587909 S 6533 0 1 "" IS38137 esv2345155 3 162992324 162992763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867182 S 1 0 1 "" NA18507 esv2634265 3 162992521 162992584 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374802 S 1 0 1 "" NA18507 esv269274 3 163037308 163037435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510274,essv2511201,essv2510365,essv2509782,essv2493606,essv2498566,essv2505756,essv2513438,essv2495526,essv2503517,essv2502701,essv2506534,essv2499034 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12414,NA18508,NA18517,NA18858,NA18861,NA18907,NA18916,NA18947,NA18965,NA19108,NA19114 esv21438 3 163053350 163054137 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15474 S 451 5 0 "" NA07045,NA12156,NA12749,NA19108,NA19190 esv267852 3 163200135 163200390 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501683,essv2513114 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12144 nsv460918 3 163236803 163274093 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537396 S 1557 0 1 "" 1780862432_A esv2034625 3 163251603 163252027 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748950 S 1 0 1 "" NA18507 esv273804 3 163254150 163254450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584444,essv2583504 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv460919 3 163281784 163577124 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537397 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01336 dgv5283n71 3 163289706 163345322 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877714,nsv877715,nsv877713 M 6533 8 0 "" IS30319,IS31039,IS31346,IS38037,IS38303,IS38627,IS41842,MS17534 esv23362 3 163291296 163300421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17880,esv13485,esv17178,esv12869 M 451 0 9 "" NA07037,NA15510,NA18502,NA18505,NA18523,NA19114,NA19190,NA19240,NA19257 nsv877716 3 163300062 163329710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563680,nssv1600111 M 6533 2 0 "" IS30035,IS41840 esv1001752 3 163300760 163300936 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576769 S 3 0 1 "" HuRef nsv236402 3 163300761 163300937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254980 M 24 "" nsv877717 3 163310454 163346907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565541 S 6533 1 0 "" IS30459 nsv516904 3 163311852 163312186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654810,nssv692518,nssv688398 M 2026 0 3 "" nsv519130 3 163311852 163314917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696609 S 2026 0 1 "" nsv877718 3 163312186 163361407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578735,nssv1600033 M 6533 0 2 "" IS34896,IS41832 nsv877719 3 163329710 163386282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506894 S 6533 1 0 "" SP54429 nsv516722 3 163337412 163462969 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676504,nssv688308,nssv693533,nssv670439,nssv684262,nssv674835,nssv671571 M 2026 7 0 "" esv2751981 3 163346153 163498992 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984796,essv6987684,essv6988849 M 771 1 0 "" SPC_18 nsv877720 3 163349773 163455191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594750,nssv1599564 M 6533 2 0 "" IS40012,IS41672 nsv460922 3 163361407 163459425 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537398 S 1557 1 0 "" NINDS_67 nsv877721 3 163361407 163785970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526275 S 6533 0 1 "" SP57148 nsv460923 3 163373372 163420659 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537399 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01284 nsv470982 3 163373372 163420659 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544477 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01284 nsv509857 3 163390616 163396616 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618588 S 4 0 1 "" CHM nsv877722 3 163398551 163455191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595863 S 6533 1 0 "" IS40346 nsv877723 3 163398551 163485828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541255 S 6533 1 0 "" MS15212 esv22053 3 163400698 163402856 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13925 S 451 1 0 "" NA18502 nsv877724 3 163505653 163680829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581064 S 6533 0 1 "" IS35498 esv1359952 3 163510206 163510206 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741815 S 2 1 0 "" HuRef esv1308312 3 163519346 163519346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938841 S 2 1 0 "" HuRef nsv877725 3 163519573 163699360 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541256 S 6533 1 0 "" MS15212 dgv5284n71 3 163568514 163637770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877726,nsv877730,nsv877729 M 6533 0 6 "" IS30539,IS31179,IS32365,IS33507,IS34962,MS17114 dgv5285n71 3 163568514 163680829 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877731,nsv877727 M 6533 0 2 "" IS31758,MS22104 nsv877728 3 163568514 163719579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536507 S 6533 0 1 "" MS12827 dgv623n27 3 163577124 163625169 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460924,nsv460925 M 1557 0 2 "" 1782681080_A,NINDS_183 dgv5286n71 3 163595810 163725235 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877736,nsv877732,nsv877738,nsv877737 M 6533 0 4 "" IS30171,IS30742,MS10721,MS13400 nsv877733 3 163605873 163641981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599606,nssv1599595 M 6533 0 2 "" IS41724,IS41729 nsv877734 3 163605873 163671319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572200 S 6533 0 1 "" IS32891 nsv516841 3 163605873 163685707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682152,nssv654962,nssv679980,nssv663324,nssv652021,nssv660276,nssv682627,nssv688973,nssv693261,nssv677508,nssv690939,nssv662299,nssv683401,nssv684210,nssv673382,nssv659304,nssv663107,nssv678515,nssv669625,nssv690836,nssv656166,nssv672598,nssv653466,nssv674387,nssv691162,nssv683861,nssv656950,nssv676155,nssv676342,nssv676037,nssv663247,nssv656760,nssv666323,nssv655633,nssv654500,nssv692358,nssv676591,nssv658053,nssv670737,nssv704826,nssv675094,nssv677792,nssv681003,nssv688887,nssv679063,nssv675943,nssv662603,nssv674345,nssv690971,nssv652367,nssv684070,nssv691232,nssv656448,nssv665290,nssv660542,nssv672287,nssv676663,nssv683451,nssv673592,nssv673450,nssv663044,nssv653749,nssv692263,nssv671627,nssv688722,nssv670690,nssv676896,nssv687245,nssv674609,nssv690498,nssv660676,nssv673031,nssv679502,nssv690135,nssv681039,nssv658935,nssv655186,nssv693472,nssv691699,nssv677597,nssv684680,nssv677852,nssv666214,nssv671077,nssv667323,nssv689830,nssv683510,nssv671497,nssv665768,nssv678634,nssv679844,nssv692899,nssv664358,nssv662385,nssv678398,nssv671749,nssv675434,nssv667881,nssv693315,nssv687158,nssv662538,nssv660456,nssv676716,nssv692519,nssv689710,nssv677196,nssv692452,nssv685603,nssv653957,nssv666462,nssv661153,nssv676266,nssv693015,nssv685617,nssv663027,nssv691311,nssv678712,nssv660614,nssv681468,nssv654077,nssv678328,nssv659481,nssv679409,nssv660094,nssv677059,nssv661782,nssv690763,nssv653285,nssv692153,nssv658659,nssv667870,nssv687777,nssv687330,nssv651747,nssv661543,nssv661566,nssv693232,nssv690853,nssv669903,nssv688344,nssv683212,nssv670010,nssv682660,nssv663761,nssv667203,nssv674569,nssv663800,nssv664529,nssv681580,nssv676505,nssv661588,nssv657903,nssv672771,nssv664577,nssv687381,nssv654704,nssv668356,nssv655773,nssv671008,nssv687349,nssv654811,nssv657954,nssv660151,nssv657459 M 2026 0 164 "" nsv877735 3 163605873 163863648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575903 S 6533 0 1 "" IS33839 esv26871 3 163612403 163625949 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21344 S 451 0 1 "" NA12414 nsv437891 3 163612687 163624579 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471427,nssv471428 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10854,NA11840 dgv624n27 3 163613385 163625169 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460930,nsv460927,nsv460933,nsv460934,nsv460929,nsv460926 M 1557 0 6 "" 1780854464_A,1780862355_A,1780862517_A,HGDP00328,HGDP00590,HGDP00645 nsv818182 3 163613385 163625169 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418053,nssv1418054 M 112 0 2 "" NA10859,NA11881 esv2422025 3 163613385 163625399 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018859,essv5049981,essv5020881,essv5060448,essv5058827,essv5049809,essv5012320,essv5084848,essv5124707,essv5161213,essv5091189,essv5043915,essv5056634,essv5050489,essv5133435,essv5062897,essv5050806,essv5108232,essv5124853,essv5004772,essv5137485,essv5149442,essv5034774,essv5100555,essv5157178,essv5138708,essv5076125,essv5101406,essv5102040,essv5050645,essv5065594,essv5050166,essv5065607,essv5045978,essv5160894,essv5113745,essv5126131,essv5053020,essv5114228,essv5008264,essv5143996,essv5144899,essv5129012,essv5015508,essv5066707,essv5136952,essv5089245,essv5130252,essv5056861,essv5158996,essv5011795,essv5108792,essv5069641,essv5116377,essv5126737,essv5114279,essv5158902,essv5067273,essv5099537,essv5149518,essv5037154 M 1184 0 61 "" NA07346,NA07349,NA10853,NA10854,NA10859,NA11840,NA11843,NA11881,NA11892,NA11917,NA11920,NA12753,NA12760,NA12761,NA12762,NA12767,NA12777,NA12815,NA12832,NA12842,NA19379,NA19649,NA19650,NA19684,NA19686,NA19756,NA19762,NA19771,NA19772,NA19782,NA20287,NA20288,NA20504,NA20586,NA20588,NA20753,NA20754,NA20772,NA20778,NA20783,NA20785,NA20797,NA20800,NA20801,NA20806,NA20807,NA20828,NA20854,NA20887,NA20892,NA21300,NA21400,NA21423,NA21425,NA21435,NA21509,NA21520,NA21577,NA21617,NA21631,NA21740 nsv460931 3 163613385 163710564 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537407 S 1557 0 1 "" NINDS_249 nsv460932 3 163613385 163720933 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537408 S 1557 1 0 "" NINDS_216 nsv441847 3 163620294 163625399 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514177 3 163621488 163625376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627613 S 1414 0 1 "" nsv428424 3 163628682 164516637 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454285,nssv454288,nssv454284,nssv454286 M 62 3 1 LOC647107 HGDP00449,HGDP01088,NA18916,NA19181 dgv5287n71 3 163641981 163719579 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877743,nsv877740,nsv877739 M 6533 0 5 "" IS35100,IS35742,MS10758,MS21470,SP55842 dgv5288n71 3 163641981 163721879 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv877741,nsv877742 M 6533 5 17 "" IS30378,IS30432,IS36244,IS36533,IS41113,MS10699,MS12050,MS12859,MS14209,MS14353,MS16832,MS17642,MS17697,MS17842,MS18205,MS18843,MS20361,MS21737,MS22797,MS23152,MS23257,MS24785 dgv1528e1 3 163666156 163709515 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5779,esv1422,essv3602 M 271 0 0 "" NA18540,NA18969 dgv5289n71 3 163680829 163725235 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877747,nsv877745,nsv877744,nsv877749,nsv877752,nsv877750 M 6533 0 8 "" MS14549,MS15206,MS17503,MS19923,MS20229,MS23008,SP53041,SP56005 dgv5290n71 3 163685707 163721879 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv877746,nsv877751,nsv877748 M 6533 3 186 "" IS38491,MS10400,MS10843,MS11836,MS13241,MS13813,MS16160,MS16347,MS17949,MS19842,MS21506,MS24045,SP50017,SP50032,SP50038,SP50046,SP50058,SP50098,SP50119,SP50125,SP50176,SP50183,SP50523,SP50527,SP50528,SP50535,SP50593,SP50598,SP50649,SP50798,SP50802,SP50832,SP50870,SP50896,SP50908,SP50925,SP50942,SP50943,SP50989,SP50996,SP50998,SP51025,SP51040,SP51042,SP51061,SP51082,SP51353,SP51419,SP51469,SP51489,SP51506,SP52019,SP52035,SP52039,SP52060,SP52064,SP52113,SP52160,SP52161,SP52175,SP52195,SP52231,SP52497,SP52566,SP52661,SP52676,SP52700,SP52729,SP52761,SP52762,SP52914,SP53048,SP53330,SP53342,SP53448,SP53719,SP53964,SP54042,SP54078,SP54127,SP54389,SP54395,SP54407,SP54455,SP54509,SP54516,SP54517,SP54524,SP54532,SP54543,SP54544,SP54591,SP54604,SP54606,SP54627,SP54661,SP54665,SP54704,SP54720,SP54725,SP54734,SP54766,SP54776,SP54789,SP54790,SP54935,SP55074,SP55131,SP55195,SP55318,SP55355,SP55424,SP55436,SP55548,SP55551,SP55557,SP55565,SP55569,SP55597,SP55621,SP55647,SP55670,SP55692,SP55699,SP55715,SP55765,SP55774,SP55789,SP55791,SP55808,SP55851,SP55883,SP55947,SP55984,SP55992,SP56012,SP56022,SP56023,SP56042,SP56086,SP56106,SP56119,SP56200,SP56223,SP56224,SP56231,SP56271,SP56289,SP56313,SP56373,SP56707,SP56710,SP56766,SP56816,SP56832,SP56834,SP56846,SP56848,SP56849,SP56862,SP56890,SP56965,SP56987,SP57013,SP57045,SP57199,SP57250,SP57273,SP57314,SP57347,SP57401,SP57481,SP57501,SP57506,SP57551,SP57651,SP57671,SP57779,SP57856,SP57925,SP58215,SP58557,SP80925,SP80928,SP80930,SP80953,SP80992,SP81014,SP81024 nsv10344 3 163692961 163718496 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28999,nssv29174 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA18942 nsv829775 3 163694312 163889096 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443143 S 95 1 0 "" esv8195 3 163696401 163718291 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30636 S 1 0 1 "" SJK dgv625n27 3 163696570 163712278 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460938,nsv460946,nsv460941,nsv460942,nsv460940,nsv460947,nsv460955,nsv460945,nsv460936,nsv460954,nsv460935,nsv460944,nsv460948,nsv460952,nsv460943,nsv460953,nsv460937,nsv460956 M 1557 0 18 "" HGDP00748,HGDP00815,HGDP00945,HGDP00962,HGDP01100,HGDP01181,HGDP01185,HGDP01186,HGDP01187,HGDP01214,HGDP01215,HGDP01220,HGDP01231,HGDP01232,HGDP01237,HGDP01242,HGDP01347,HGDP01349 esv2421579 3 163696570 163712278 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5098531,essv5093981,essv5051438,essv5036271,essv5142814,essv5089785,essv5129837,essv5103138,essv5113283,essv5069870,essv5055506,essv5077859,essv5113596,essv5066992,essv5047127,essv5133508,essv5096131,essv5115307,essv5007460,essv5084886,essv5098257,essv5003110,essv5024703,essv5005543,essv5062084,essv5144413,essv5134073,essv5036188,essv5140603,essv5034356,essv5154445,essv5132216,essv5122948,essv5142682,essv5019888,essv5024174,essv5050062,essv5144103,essv5083211,essv5035874,essv5108268,essv5160738,essv5125206,essv5008417,essv5108538,essv5007562,essv5016409,essv5082212,essv5114819,essv5023036,essv5078465,essv5040841,essv5040864,essv5106805,essv5018090,essv5160537,essv5006464,essv5071123,essv5019158,essv5108023,essv5032717,essv5046379,essv5146613,essv5098170,essv5052044,essv5027691,essv5023343,essv5104916,essv5040006,essv5139106,essv5030325,essv5072625,essv5156983,essv5124994,essv5124071,essv5011446,essv5104134,essv5093182,essv5023108,essv5106240,essv5105666,essv5159158,essv5066024,essv5064866,essv5046927,essv5140809,essv5070062 M 1184 0 87 "" NA17965,NA17972,NA17977,NA17982,NA17986,NA17989,NA17999,NA18101,NA18105,NA18106,NA18107,NA18112,NA18125,NA18129,NA18146,NA18149,NA18152,NA18159,NA18160,NA18166,NA18526,NA18532,NA18534,NA18543,NA18544,NA18548,NA18550,NA18561,NA18563,NA18571,NA18579,NA18593,NA18602,NA18613,NA18615,NA18618,NA18622,NA18626,NA18628,NA18630,NA18633,NA18638,NA18640,NA18642,NA18643,NA18647,NA18674,NA18682,NA18694,NA18696,NA18745,NA18747,NA18748,NA18749,NA18757,NA18942,NA18946,NA18947,NA18952,NA18966,NA18968,NA18969,NA18970,NA18971,NA18973,NA18974,NA18976,NA18978,NA18979,NA18990,NA18991,NA18994,NA19001,NA19005,NA19010,NA19056,NA19057,NA19058,NA19060,NA19062,NA19066,NA19072,NA19074,NA19076,NA19078,NA19088,NA20802 nsv460949 3 163696570 163720933 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537424 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00708 dgv835n67 3 163697867 163718268 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822310,nsv822311 M 31 0 13 "" AK14,AK16,AK18,AK2,AK20,AK6,NA18526,NA18942,NA18947,NA18968,NA18969,NA18972,NA18973 nsv442879 3 163699323 163709653 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv877753 3 163699360 163721879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542410 S 6533 0 1 "" MS15779 nsv877754 3 163699360 163725235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554814 S 6533 1 0 "" MS21017 nsv514178 3 163699376 163709072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627615 S 1414 0 1 "" dgv1529e1 3 163700466 163709515 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3667,essv2142 M 271 0 0 "" NA18978,NA18991 nsv470994 3 163700687 164428528 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544510,nssv544521,nssv544499,nssv544488 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC647107 HGDP00449,HGDP00962,HGDP00963,HGDP01180 nsv437892 3 163700688 163712278 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471431,nssv471433,nssv471430,nssv471432,nssv471429 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18540,NA18966,NA18968,NA18969,NA18991 nsv517264 3 163700688 163712278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670691,nssv691440,nssv692712,nssv681469,nssv692553,nssv665840,nssv663153,nssv654158,nssv694017,nssv673295,nssv683495,nssv672964,nssv690570 M 2026 0 13 "" nsv818183 3 163700688 163712278 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417257,nssv1417548,nssv1417604,nssv1417502,nssv1417171 M 112 0 5 "" NA18550,NA18593,NA18968,NA18971,NA18978 dgv5291n71 3 163701543 163874495 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877755,nsv877756,nsv877757 M 6533 0 6 "" IS30196,IS31142,IS34128,IS40840,IS41524,MS17067 nsv4092 3 163738311 163767700 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10370 S 9 1 0 "" NA18956 esv270707 3 163741767 163741852 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517105,essv2514098,essv2518703,essv2514855 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12043,NA12045,NA12234 dgv5292n71 3 163770267 164004033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877759,nsv877761,nsv877758 M 6533 0 3 "" IS30432,MS18978,MS22104 nsv877760 3 163796732 163874495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584107 S 6533 0 1 "" IS36854 nsv460957 3 163853635 163881963 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537432 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199 nsv519736 3 163871899 163874495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658021,nssv691252 M 2026 0 2 "" nsv877762 3 163883314 164004033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568918 S 6533 0 1 "" IS31373 esv2108598 3 163890800 163891504 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617441 S 1 0 1 "" NA18507 esv4079 3 163890952 163891359 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26520 S 1 0 1 Single Asian sample YH "" YH esv996579 3 163890993 163891308 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576141 S 3 0 1 "" HuRef esv1626026 3 163891004 163891320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364278 S 2 0 1 "" HuRef nsv236897 3 163891005 163891320 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255475 M 24 "" esv8348 3 163891012 163891319 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30789 S 1 0 1 "" SJK nsv511103 3 163898360 163913046 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622364 S 4 0 0 "" NA10860 nsv829776 3 163905118 164060272 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443153,nssv1443152,nssv1443150,nssv1443144,nssv1443145,nssv1443149,nssv1443147,nssv1443148,nssv1443146 M 95 9 0 "" nsv877763 3 163938509 164004033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550791 S 6533 0 1 "" MS18620 dgv5293n71 3 163941192 163981452 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877764,nsv877765 M 6533 0 16 "" IS30553,IS30567,IS30763,IS31041,IS31166,IS31564,IS31706,IS33533,IS34758,IS36219,IS37421,IS38168,IS39457,IS39759,IS40494,IS40703 dgv1530e1 3 163953743 164225488 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6838,esv279 M 271 0 0 "" NA18579 nsv877766 3 163957528 163981452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593739 S 6533 0 1 "" IS39512 dgv5294n71 3 163957528 164004033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877767,nsv877768 M 6533 0 2 "" IS35018,SP56904 nsv4093 3 163962347 164137281 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9631,nssv2427,nssv9385,nssv11070,nssv3210 M 9 0 5 "" NA12878,NA15510,NA18507,NA18517,NA18555 nsv516901 3 163965426 163977796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685562,nssv654779 M 2026 0 2 "" dgv5295n71 3 163969358 164119375 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877770,nsv877773,nsv877769,nsv877771 M 6533 4 0 "" IS32918,IS34005,IS39373,IS39417 nsv822312 3 163970717 163980029 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428967 S 31 0 1 "" AK12 nsv10345 3 163977858 163979804 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12201 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv437894 3 163988129 164105350 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv471477,nssv471619,nssv471526,nssv471602,nssv467746,nssv467855,nssv471627,nssv471454,nssv471585,nssv467777,nssv471573,nssv471450,nssv467757,nssv467783,nssv471582,nssv471456,nssv471555,nssv471611,nssv471637,nssv467758,nssv471499,nssv467848,nssv471528,nssv471502,nssv471520,nssv467816,nssv471486,nssv471597,nssv471537,nssv471598,nssv467828,nssv471460,nssv471594,nssv471478,nssv471463,nssv471533,nssv471543,nssv471558,nssv471605,nssv467827,nssv471505,nssv471438,nssv467821,nssv467754,nssv467750,nssv471576,nssv471624,nssv471592,nssv471516,nssv471453,nssv467795,nssv471497,nssv471513,nssv467785,nssv471483,nssv467779,nssv467807,nssv471491,nssv471607,nssv471587,nssv471517,nssv467838,nssv471640,nssv471575,nssv467804,nssv471588,nssv471531,nssv467863,nssv471448,nssv467831,nssv467749,nssv471577,nssv467836,nssv471458,nssv471564,nssv467763,nssv471510,nssv471464,nssv471498,nssv471583,nssv471551,nssv471547,nssv467839,nssv467820,nssv471442,nssv467790,nssv467810,nssv471638,nssv467792,nssv471439,nssv471542,nssv471538,nssv471434,nssv471518,nssv471628,nssv471626,nssv467781,nssv471562,nssv471529,nssv467768,nssv471641,nssv467776,nssv471629,nssv471470,nssv467842,nssv471584,nssv471540,nssv467774,nssv471452,nssv471459,nssv467825,nssv471578,nssv471572,nssv471476,nssv471467,nssv467861,nssv467845,nssv471451,nssv467789,nssv467752,nssv471621,nssv467835,nssv471489,nssv471570,nssv467794,nssv471563,nssv471561,nssv471599,nssv467802,nssv467769,nssv467762,nssv471591,nssv471519,nssv471630,nssv471507,nssv471635,nssv467823,nssv471473,nssv467755,nssv471586,nssv467744,nssv467862,nssv467772,nssv467791,nssv467826,nssv471521,nssv471553,nssv471447,nssv471496,nssv471484,nssv471444,nssv467854,nssv467856,nssv467798,nssv467747,nssv467846,nssv471455,nssv471620,nssv467800,nssv471548,nssv471616,nssv471550,nssv471600,nssv467784,nssv471631,nssv467833,nssv471559,nssv471530,nssv471474,nssv467759,nssv467849,nssv467859,nssv467805,nssv467788,nssv467857,nssv471485,nssv467773,nssv471632,nssv471644,nssv471471,nssv467770,nssv467824,nssv467799,nssv467818,nssv471436,nssv471475,nssv471545,nssv467761,nssv467822,nssv471472,nssv471536,nssv471492,nssv467814,nssv471441,nssv471622,nssv471625,nssv471552,nssv467860,nssv467796,nssv467812,nssv471618,nssv471642,nssv471461,nssv471549,nssv471488,nssv471615,nssv467745,nssv471617,nssv471541,nssv467843,nssv471481,nssv471567,nssv471604,nssv471482,nssv471593,nssv467793,nssv471596,nssv471606,nssv471603,nssv471494,nssv467780,nssv471514,nssv467771,nssv471511,nssv471610,nssv471508,nssv471466,nssv467806,nssv467778,nssv471613,nssv471566,nssv467803,nssv471524,nssv467837,nssv467766,nssv471633,nssv471437,nssv471503,nssv467844,nssv471560,nssv471527,nssv471525,nssv471574,nssv471532,nssv467760,nssv467847,nssv467801,nssv471462,nssv471522,nssv471554,nssv471609,nssv471504,nssv471487,nssv471595,nssv467765,nssv467748,nssv467832,nssv471581,nssv471440,nssv467829,nssv467811,nssv471495,nssv471480,nssv471445,nssv467815,nssv471500,nssv471465,nssv467809,nssv471506,nssv467787,nssv471643,nssv467851,nssv471556,nssv471443,nssv467767,nssv467850,nssv467858,nssv467817,nssv471569,nssv467840,nssv467813,nssv471539,nssv471449,nssv471469,nssv471493,nssv467756,nssv471639,nssv467782,nssv467743,nssv471580,nssv471515,nssv471565,nssv471509,nssv467751,nssv467834,nssv471571,nssv471589,nssv471544,nssv471608,nssv471614,nssv471636 M 269 0 161 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA06994,NA07000,NA07019,NA07029,NA07034,NA07048,NA07056,NA07345,NA07348,NA07357,NA10831,NA10835,NA10838,NA10839,NA10847,NA10851,NA10860,NA10861,NA10863,NA11830,NA11831,NA11839,NA11882,NA11994,NA12003,NA12005,NA12006,NA12044,NA12056,NA12057,NA12145,NA12146,NA12248,NA12249,NA12264,NA12707,NA12716,NA12717,NA12740,NA12750,NA12751,NA12752,NA12760,NA12761,NA12763,NA12801,NA12812,NA12813,NA12865,NA12872,NA12874,NA12875,NA12878,NA12891,NA12892,NA18505,NA18524,NA18526,NA18532,NA18540,NA18542,NA18547,NA18550,NA18552,NA18555,NA18561,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18855,NA18857,NA18860,NA18861,NA18863,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA18965,NA18966,NA18967,NA18968,NA18971,NA18972,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18995,NA18997,NA18998,NA18999,NA19003,NA19005,NA19007,NA19098,NA19100,NA19101,NA19103,NA19116,NA19138,NA19139,NA19140,NA19142,NA19144,NA19145,NA19152,NA19154,NA19161,NA19200,NA19204,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19238,NA19240 nsv508257 3 163988165 164118933 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618729,nssv619925 M 4 0 2 "" NA10860,NA15510 dgv5296n71 3 163989980 164123163 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv877774,nsv877772 M 6533 3 6 "" IS30411,IS34405,IS38491,MS12071,MS12771,MS15458,MS17678,MS18130,MS23495 nsv510886 3 163990218 164118933 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618633 S 4 0 0 "" CHM nsv236452 3 163991163 163993203 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255030 M 24 "" nsv245 3 163991641 164115385 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv245 S 1 0 1 "" NA15510 nsv511198 3 163992511 164109279 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626532 S 1 1 0 "" 1 dgv77n17 3 163992780 164109279 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437857,nsv437858 M 60 0 2 "" NA06991,NA07048 nsv10346 3 163993059 164109972 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11761,nssv28949,nssv12253,nssv12223,nssv12930,nssv28992,nssv12222,nssv11658,nssv12267,nssv11688,nssv28734,nssv11634,nssv12488,nssv29089,nssv28979,nssv28778,nssv29164,nssv11583,nssv11664,nssv29057,nssv12252,nssv12237,nssv11969,nssv29059,nssv12314,nssv29029,nssv29134,nssv29027,nssv29062,nssv29183,nssv11939,nssv28429,nssv28740,nssv11614,nssv29035,nssv29092,nssv11584,nssv12458,nssv11554,nssv28983,nssv29104,nssv13043,nssv29143 M 31 23 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2618007 3 163993300 164109212 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197330 S 1 0 1 "" NA18507 dgv85n16 3 163994037 164110109 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435760,nsv436378 M 2 0 2 "" NA15510,NA18505 esv3984 3 163994788 164109092 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26425 S 1 0 1 Single Asian sample YH "" YH nsv499019 3 163994827 164109030 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585880 S 9 0 1 "" dgv111e180 3 163994833 164109038 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006896,esv1003687,esv993398 M 3 1 0 "" HuRef dgv836n67 3 163994833 164109307 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822313,nsv822316,nsv822314,nsv822315 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv29037 3 163994833 164109307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10177,esv13093 M 451 34 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821046 3 163994833 164109307 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420348 S 1 0 1 "" NA10851 nsv442880 3 163995351 164106575 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421671 3 163995351 164108689 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055237,essv5072366,essv5028236,essv5041789,essv5153568,essv5125478,essv5148937,essv5146093,essv5149963,essv5133159,essv5039125,essv5034500,essv5096950,essv5025238,essv5036774,essv5107968,essv5009140,essv5134911,essv5074435,essv5152937,essv5155388,essv5065124,essv5075622,essv5005828,essv5156729,essv5160368,essv5043773,essv5107312,essv5042911,essv5129165,essv5119082,essv5054867,essv5110960,essv5154783,essv5137761,essv5153140,essv5134426,essv5009202,essv5078431,essv5033960,essv5010805,essv5126706,essv5080344,essv5085575,essv5158091,essv5024221,essv5144758,essv5142236,essv5059976,essv5048882,essv5132615,essv5155333,essv5032121,essv5073528,essv5034298,essv5064783,essv5017485,essv5024071,essv5122324,essv5060054,essv5004775,essv5106467,essv5007959,essv5132872,essv5075850,essv5134235,essv5099371,essv5099150,essv5135496,essv5064237,essv5024818,essv5111671,essv5077287,essv5024471,essv5066817,essv5066702,essv5084378,essv5155514,essv5094125,essv5091811,essv5063500,essv5047551,essv5050323,essv5155809,essv5076298,essv5073183,essv5104753,essv5012548,essv5152962,essv5151451,essv5034926,essv5133331,essv5048664,essv5071665,essv5146974,essv5044733,essv5089880,essv5108886,essv5082490,essv5065133,essv5107176,essv5077171,essv5014776,essv5063472,essv5112590,essv5123848,essv5087962,essv5151264,essv5061515,essv5031176,essv5089315,essv5065656,essv5139938,essv5088304,essv5074848,essv5140764,essv5145737,essv5046316,essv5067389,essv5148089,essv5038254,essv5068357,essv5110841,essv5126309,essv5056372,essv5130892,essv5081388,essv5030267,essv5005430,essv5078766,essv5099596,essv5146383,essv5094318,essv5145118,essv5145213,essv5072237,essv5083527,essv5096710,essv5009435,essv5036022,essv5136748,essv5147134,essv5097712,essv5020830,essv5071002,essv5128419,essv5087630,essv5083812,essv5076668,essv5112297,essv5085562,essv5134152,essv5122721,essv5094976,essv5023616,essv5008354,essv5010247,essv5127926,essv5029657,essv5111088,essv5026549,essv5025529,essv5074077,essv5011910,essv5086580,essv5140087,essv5047117,essv5094836,essv5136062,essv5131911,essv5075196,essv5057510,essv5003595,essv5010191,essv5118321,essv5005721,essv5112019,essv5052728,essv5117751,essv5007018,essv5138088,essv5038727,essv5150429,essv5081248,essv5104870,essv5068133,essv5121568,essv5063168,essv5074469,essv5013780,essv5027352,essv5112521,essv5060089,essv5054874,essv5097275,essv5021925,essv5108130,essv5090188,essv5067701,essv5130214,essv5087747,essv5073015,essv5083448,essv5097947,essv5083035,essv5028961,essv5009097,essv5097637,essv5120165,essv5157194,essv5107800,essv5006343,essv5069334,essv5141878,essv5020626,essv5067282,essv5125831,essv5021445,essv5117108,essv5056642,essv5061895,essv5145316,essv5067736,essv5034813,essv5159579,essv5005740,essv5009618,essv5082530,essv5083167,essv5068174,essv5047357,essv5006937,essv5110725,essv5016937,essv5099252,essv5137495,essv5025843,essv5016403,essv5078200,essv5098989,essv5059987,essv5048382,essv5080748,essv5101819,essv5150207,essv5035052,essv5131641,essv5069586,essv5057723,essv5115802,essv5029688,essv5072153,essv5073287,essv5043949,essv5139980,essv5049609,essv5019579,essv5021442,essv5106999,essv5116209,essv5159401,essv5044587,essv5019698,essv5161041,essv5102552,essv5023590,essv5047436,essv5156215,essv5142562,essv5039870,essv5090910,essv5092485,essv5030805,essv5009832,essv5029216,essv5122723,essv5148070,essv5041429,essv5103561,essv5151223,essv5105376,essv5015855,essv5137027,essv5094244,essv5023245,essv5025913,essv5003784,essv5139831,essv5142568,essv5044972,essv5094342,essv5041047,essv5008058,essv5103089,essv5110260,essv5099990,essv5052220,essv5038657,essv5059655,essv5028090,essv5132882,essv5115385,essv5131198,essv5002700,essv5055528,essv5002619,essv5030223,essv5150838,essv5121052,essv5101647,essv5042159,essv5054978,essv5082526,essv5026242,essv5026978,essv5027454,essv5025824,essv5034639,essv5068970,essv5148062,essv5084368,essv5147152,essv5148755,essv5072755,essv5033004,essv5117576,essv5063972,essv5098185,essv5007994,essv5074401,essv5142384,essv5054560,essv5095673,essv5094826,essv5140209,essv5083687,essv5155617,essv5110961,essv5123272,essv5113494,essv5127727,essv5102376,essv5053580,essv5003477,essv5046242,essv5032332,essv5038201,essv5040640,essv5135418,essv5158525,essv5026130,essv5055517,essv5075115,essv5051827,essv5092758,essv5097973,essv5084573,essv5134522,essv5141326,essv5038998,essv5066590,essv5083345,essv5101996,essv5063793,essv5127537,essv5053871,essv5034353,essv5066846,essv5026385,essv5131892,essv5110826,essv5092596,essv5036726,essv5151114,essv5125530,essv5085973,essv5058609,essv5113167,essv5160972,essv5039406,essv5022846,essv5058200,essv5150463,essv5040769,essv5126607,essv5147017,essv5067481,essv5076342,essv5083873,essv5108206,essv5060714,essv5037929,essv5137259,essv5100557,essv5099621,essv5113720,essv5131823,essv5077011,essv5154856,essv5018294,essv5158859,essv5020660,essv5085430,essv5009702,essv5044228,essv5111091,essv5131073,essv5080044,essv5124131,essv5066208,essv5114349,essv5067552,essv5123993,essv5075240,essv5116989,essv5123788,essv5099617,essv5128813,essv5135166,essv5102465,essv5047691,essv5088669,essv5020750,essv5117213,essv5126463,essv5064159,essv5138270,essv5130082,essv5134933,essv5063558,essv5122657,essv5013574,essv5053098,essv5055835,essv5132261,essv5031545,essv5108199,essv5049842,essv5084876,essv5071456,essv5109297,essv5031320,essv5083159,essv5109595,essv5070739,essv5005687,essv5133378,essv5127007,essv5140665,essv5154108,essv5136343,essv5084713,essv5002437,essv5137109,essv5121975,essv5090334,essv5027033,essv5135687,essv5110796,essv5073882,essv5011104,essv5091956,essv5105180,essv5132329,essv5065354,essv5056746,essv5148495,essv5101725,essv5124770,essv5060098,essv5088173,essv5043422,essv5065530,essv5114440,essv5111624,essv5128248,essv5076462,essv5096753,essv5004927,essv5150942,essv5155486,essv5006614,essv5008601,essv5062269,essv5097405,essv5032638,essv5141035,essv5063462,essv5003923,essv5104799,essv5049077,essv5153307,essv5016960,essv5108037,essv5049432,essv5052945,essv5076066,essv5138297,essv5032193,essv5150389,essv5100845,essv5156174,essv5031097,essv5086093,essv5083937,essv5145759,essv5097308,essv5068628,essv5143634,essv5060798,essv5012495,essv5040166,essv5157938,essv5059883,essv5141844,essv5151240,essv5105323,essv5007674,essv5060802,essv5117023,essv5129519,essv5115503,essv5101027,essv5143443,essv5077334,essv5123866,essv5057973,essv5137003,essv5011712,essv5152041,essv5107497,essv5047351,essv5151067,essv5126016,essv5134321,essv5123407,essv5064821,essv5077945,essv5144874,essv5047394,essv5075359,essv5018304,essv5097977,essv5143971,essv5090690,essv5076747,essv5157352,essv5135773,essv5150489,essv5146139,essv5151029,essv5031284,essv5015692,essv5108662,essv5035108,essv5128771,essv5060973,essv5089115,essv5049220,essv5008215,essv5053971,essv5073763,essv5056600,essv5132569,essv5094096,essv5065582,essv5066319,essv5044866,essv5019378,essv5011734,essv5149498,essv5002125,essv5040739,essv5019282,essv5007815,essv5007326,essv5150719,essv5042594,essv5032077,essv5144325,essv5033026,essv5140491,essv5060623,essv5022862,essv5048702,essv5047988,essv5131819,essv5138942,essv5122250,essv5090832,essv5094819,essv5044534,essv5004231,essv5144441,essv5142249,essv5043016,essv5085700,essv5144769,essv5121458,essv5155064,essv5018285,essv5092474,essv5035596,essv5008917,essv5131867,essv5105694,essv5138178,essv5137992,essv5118956,essv5058402,essv5156077,essv5124687,essv5160024,essv5093910,essv5104820,essv5126044,essv5139603,essv5112681,essv5077746,essv5135506,essv5095599,essv5155495,essv5006245,essv5125404,essv5062485,essv5156605,essv5006198,essv5033415,essv5024949,essv5073950,essv5107194,essv5144780,essv5110570,essv5108261,essv5065699,essv5150305,essv5076151,essv5078316,essv5033911,essv5073754,essv5085824,essv5064456,essv5111151,essv5014834,essv5074478,essv5141996,essv5061519,essv5063655,essv5103863,essv5103203,essv5158456,essv5121436,essv5113207,essv5003686,essv5065360,essv5001928,essv5063463,essv5027844,essv5110135,essv5112039,essv5102975,essv5145901,essv5069425,essv5101256,essv5121923,essv5091793,essv5061576,essv5081359,essv5160012,essv5046917,essv5146734,essv5026843,essv5040909,essv5022085,essv5044919,essv5015586,essv5116740,essv5046834,essv5159632,essv5146218,essv5024868,essv5156565,essv5150441,essv5152778,essv5086552,essv5014320,essv5021648,essv5118867,essv5112445,essv5137207,essv5071316,essv5042040,essv5158430,essv5003979,essv5153640,essv5066664,essv5056544,essv5028103,essv5021873,essv5123937,essv5111818,essv5081884,essv5083102,essv5124995,essv5027305,essv5048075,essv5092320,essv5010419,essv5014149,essv5058677,essv5091318,essv5021837,essv5112567,essv5044251,essv5055102,essv5044272,essv5020479,essv5112265,essv5005209,essv5015762,essv5049012,essv5137842,essv5080620,essv5158036,essv5012967,essv5054995,essv5092813,essv5028965,essv5072488,essv5137430,essv5053087,essv5056414,essv5030169,essv5129249,essv5011886,essv5032479,essv5042046,essv5124362,essv5054137,essv5053469,essv5129786,essv5109097,essv5137593,essv5032235,essv5081783,essv5118072,essv5121872,essv5068204,essv5059755,essv5052901,essv5058620,essv5047870,essv5070579,essv5145339,essv5137060,essv5072718,essv5111583,essv5121543,essv5090866,essv5138576,essv5044092,essv5058595,essv5095106,essv5067662,essv5024643,essv5088772,essv5067021,essv5125205,essv5107132,essv5123180,essv5069568,essv5117718,essv5036710,essv5107045,essv5039118,essv5140025,essv5089185,essv5044780,essv5058018,essv5148170,essv5051280,essv5114672,essv5102695,essv5126249,essv5155189,essv5030545,essv5082711,essv5035744,essv5133587,essv5009310,essv5103766,essv5070477,essv5036851,essv5104701,essv5155341,essv5013445,essv5084409,essv5033207,essv5102714,essv5130087,essv5134562,essv5089492,essv5101089,essv5066688,essv5056212,essv5059835,essv5072640,essv5043063,essv5060961,essv5124660,essv5127523,essv5135797,essv5142913,essv5109475,essv5107141,essv5143569,essv5130636,essv5054297,essv5037486,essv5093472,essv5012800,essv5012768,essv5059352,essv5049932,essv5025934,essv5025502,essv5036608,essv5148474,essv5058594,essv5090177,essv5153426,essv5048359,essv5159821,essv5092268,essv5050971,essv5146605,essv5117170,essv5083264,essv5102133,essv5133408,essv5091962,essv5070393,essv5052991,essv5067636,essv5079642,essv5053354,essv5149568,essv5056913,essv5051788,essv5066751,essv5084360,essv5112960,essv5144318,essv5024675,essv5127141,essv5088144 M 1184 0 856 "" NA06985,NA06989,NA06991,NA06994,NA06995,NA07000,NA07022,NA07029,NA07037,NA07055,NA07056,NA07345,NA07347,NA07348,NA07357,NA07435,NA10830,NA10836,NA10838,NA10839,NA10850,NA10853,NA10861,NA10863,NA10864,NA11832,NA11840,NA11881,NA11893,NA11918,NA11931,NA11994,NA12003,NA12005,NA12006,NA12056,NA12057,NA12154,NA12234,NA12239,NA12249,NA12264,NA12273,NA12275,NA12282,NA12335,NA12336,NA12341,NA12343,NA12375,NA12386,NA12399,NA12400,NA12413,NA12716,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12760,NA12761,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12830,NA12865,NA12872,NA12874,NA12875,NA12878,NA12889,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18166,NA18484,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18501,NA18503,NA18505,NA18507,NA18508,NA18509,NA18511,NA18517,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18871,NA18872,NA18873,NA18874,NA18909,NA18910,NA18911,NA18913,NA18914,NA18917,NA18923,NA18925,NA18930,NA18933,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19131,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19193,NA19197,NA19198,NA19199,NA19200,NA19202,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19310,NA19311,NA19313,NA19314,NA19315,NA19317,NA19319,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19391,NA19393,NA19394,NA19398,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19474,NA19625,NA19650,NA19651,NA19654,NA19656,NA19657,NA19658,NA19659,NA19664,NA19670,NA19671,NA19676,NA19677,NA19700,NA19701,NA19703,NA19704,NA19705,NA19708,NA19711,NA19713,NA19722,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19761,NA19770,NA19776,NA19778,NA19788,NA19789,NA19790,NA19794,NA19796,NA19819,NA19828,NA19835,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19915,NA19916,NA19918,NA19921,NA19983,NA19985,NA20127,NA20128,NA20129,NA20276,NA20277,NA20281,NA20288,NA20291,NA20292,NA20294,NA20295,NA20297,NA20301,NA20302,NA20334,NA20335,NA20336,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20350,NA20359,NA20360,NA20363,NA20364,NA20505,NA20506,NA20509,NA20512,NA20515,NA20516,NA20517,NA20519,NA20522,NA20524,NA20525,NA20527,NA20528,NA20534,NA20538,NA20539,NA20581,NA20582,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20766,NA20768,NA20769,NA20770,NA20771,NA20785,NA20790,NA20792,NA20795,NA20800,NA20801,NA20802,NA20805,NA20806,NA20808,NA20809,NA20810,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20850,NA20852,NA20853,NA20854,NA20861,NA20862,NA20869,NA20871,NA20873,NA20875,NA20889,NA20891,NA20895,NA20896,NA20898,NA20902,NA20903,NA20906,NA20908,NA20911,NA21088,NA21091,NA21092,NA21099,NA21100,NA21101,NA21102,NA21106,NA21108,NA21109,NA21111,NA21113,NA21115,NA21116,NA21137,NA21141,NA21143,NA21300,NA21303,NA21307,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21453,NA21455,NA21457,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21487,NA21488,NA21489,NA21491,NA21493,NA21494,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21619,NA21620,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 esv33404 3 163995786 164108980 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101486,essv98765,essv97602,essv101244,essv93835,essv100814,essv96858,essv95111,essv98170,essv94730,essv94007,essv94372,essv97072,essv97879,essv95626,essv95484,essv93118,essv95355,essv97389,essv101674,essv95869,essv94493,essv99081,essv92954,essv92714,essv93726,essv96685,essv97099,essv98590,essv100075,essv95933,essv93437,essv93218,essv95036,essv92657,essv97972,essv96569,essv99173,essv97704,essv100327,essv99400,essv98469,essv96314,essv94187 M 51 43 1 "" 21603,21606,21616,21618,21634,21656,21659,21721,21772,21791,21802,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22011,22075,22085,22086,22127,22128,22170,22231,22233,22259,22261,22275,22278,22300,22335,22352,22371,22394 esv29942 3 163997228 164101835 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84181 S 3 1 0 "" WATSON nsv514179 3 163997632 164101840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627616 S 1414 0 1 "" nsv829777 3 163998581 164160398 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443190,nssv1443199,nssv1443189,nssv1443198,nssv1443200,nssv1443186,nssv1443169,nssv1443192,nssv1443154,nssv1443193,nssv1443155,nssv1443191,nssv1443197,nssv1443163,nssv1443194,nssv1443158,nssv1443161,nssv1443160,nssv1443195,nssv1443167,nssv1443159,nssv1443182,nssv1443168,nssv1443165,nssv1443166,nssv1443164,nssv1443179,nssv1443174,nssv1443183,nssv1443181,nssv1443170,nssv1443171,nssv1443156,nssv1443201,nssv1443172,nssv1443188,nssv1443202,nssv1443187,nssv1443176,nssv1443178,nssv1443177,nssv1443175,nssv1443204,nssv1443180,nssv1443203,nssv1443205,nssv1443157 M 95 47 0 "" dgv25n14 3 164004033 164101579 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433388,nsv433410,nsv433399 M 9 0 3 "" NA15510,NA18555,NA18956 nsv819637 3 164004033 164101579 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418819,nssv1418839,nssv1418864 M 2 0 1 "" AK1 nsv513653 3 164007640 164030032 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626905 S 1 0 0 "" 1 esv989433 3 164007964 164031814 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565026 S 3 0 0 "" HuRef esv988586 3 164008296 164030349 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565359 S 3 0 1 "" HuRef esv9097 3 164008434 164030071 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31538 S 1 0 0 "" SJK esv989378 3 164018968 164035741 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565656 S 3 0 0 "" HuRef esv1194229 3 164028056 164030335 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113941 S 2 0 0 "" HuRef nsv513654 3 164028058 164031144 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626906 S 1 0 0 "" 1 esv6633 3 164028258 164030368 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29074 S 1 0 0 "" SJK nsv829778 3 164048355 164215049 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443210,nssv1443209,nssv1443208,nssv1443206 M 95 4 0 "" nsv822317 3 164054067 164054509 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438737 S 31 1 0 "" NA18973 nsv822318 3 164054067 164056240 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423311 S 31 0 1 "" NA18999 dgv1531e1 3 164054852 164221000 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20102,essv21231,essv23441,essv17799,essv20765,essv24277,essv22157,essv19641,essv24084,essv9163,essv24745,essv21676,essv24711,essv21269,essv9626,essv24411,essv15099,essv17615,essv14360,essv21851,essv9363,essv20221,essv13850,essv23799,essv9046,essv18124,essv15674,essv21974,essv18268,essv21545,essv17167,essv22832,essv17516,essv21453,essv11508,essv22212 M 271 0 0 "" NA07048,NA10831,NA10846,NA10854,NA10855,NA10856,NA10857,NA10859,NA10860,NA11829,NA11830,NA11839,NA11993,NA11995,NA12004,NA12044,NA12144,NA12146,NA12155,NA12248,NA12707,NA12717,NA12753,NA12762,NA12763,NA12873,NA18853,NA18854,NA18912,NA19128,NA19129,NA19132,NA19141,NA19171,NA19173,NA19194 dgv5297n71 3 164078452 164237652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877777,nsv877778,nsv877775 M 6533 0 3 "" IS35911,IS36722,MS25304 nsv877776 3 164101579 164154137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525956 S 6533 0 1 "" SP56904 dgv5298n71 3 164101579 164417803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877779,nsv877780,nsv877782 M 6533 0 4 LOC647107 IS34896,MS17114,MS18978,MS22104 esv33682 3 164112229 164118765 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93188 S 51 1 0 "" 22170 esv270188 3 164120256 164120487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511181,essv2500341,essv2510642,essv2494339,essv2504138,essv2509880,essv2496252,essv2506239,essv2498328,essv2500406,essv2497315,essv2512987,essv2497239,essv2497778,essv2499899,essv2507933,essv2506380,essv2511255,essv2494427,essv2508474,essv2508655,essv2501578,essv2505332,essv2501015,essv2498579,essv2493959,essv2509193,essv2503084,essv2511095,essv2497957,essv2502456,essv2493113,essv2505448,essv2497378,essv2502680,essv2500804,essv2510899,essv2509475,essv2510487,essv2511983,essv2501925,essv2498066 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12891,NA18501,NA18502,NA18505,NA18508,NA18511,NA18523,NA18526,NA18537,NA18545,NA18547,NA18552,NA18555,NA18562,NA18564,NA18566,NA18570,NA18572,NA18582,NA18592,NA18608,NA18853,NA18856,NA18858,NA18871,NA18909,NA18943,NA18944,NA18945,NA18948,NA18951,NA18952,NA18959,NA18965,NA18973,NA19116,NA19129,NA19172,NA19238,NA19239,NA19240 esv274520 3 164120263 164120536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580563,essv2579635 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv33448 3 164134826 164180106 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93262 S 51 1 0 "" 22170 dgv5299n71 3 164147039 164237652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877786,nsv877781 M 6533 0 2 "" IS33839,MS12071 dgv5300n71 3 164161244 164207236 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877788,nsv877783 M 6533 0 2 "" IS30667,IS31587 dgv5301n71 3 164161244 164220213 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877784,nsv877790,nsv877785,nsv877792,nsv877789,nsv877793,nsv877794 M 6533 0 7 "" IS31118,IS31187,IS37060,IS39011,IS40067,IS41113,MS11467 nsv877787 3 164161244 164291801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566602 S 6533 0 1 "" IS30824 nsv877791 3 164165519 164749961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583765 S 6533 0 1 LOC647107 IS36656 esv2751982 3 164166307 165274578 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981665,essv6981666,essv6981667,essv6985634,essv6985635 M 771 1 0 LOC647107 BEC_314 nsv4094 3 164173810 164225943 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7047,nssv2428,nssv3211 M 9 0 3 "" NA12156,NA12878,NA18555 nsv508258 3 164174409 164202074 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622472,nssv618730 M 4 0 2 "" NA10860,NA18994 esv33540 3 164182011 164184238 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99787 S 51 0 1 "" 22086 esv33293 3 164184374 164187614 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93387 S 51 1 0 "" 22170 esv2529347 3 164198358 164208024 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366554 S 1 0 1 "" NA18507 esv1009480 3 164198876 164207027 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564705 S 3 0 1 "" HuRef dgv39n50 3 164199352 164207236 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513092,nsv511210 M 1 0 1 "" 1 nsv10347 3 164199678 164207091 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29022,nssv12283,nssv29065,nssv12518,nssv12344,nssv29119,nssv12297,nssv29213,nssv11644,nssv11694,nssv11613,nssv29194,nssv13073,nssv28708,nssv29122,nssv11999,nssv12282,nssv11718,nssv28772,nssv11649,nssv29173,nssv29009,nssv29087 M 31 0 23 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173 esv2646458 3 164199719 164207249 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214155 S 1 0 1 "" NA18507 dgv112e180 3 164199882 164205055 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997068,esv1003066 M 3 0 1 "" HuRef nsv819103 3 164199891 164206698 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419794 S 2 0 1 "" AK1 dgv837n67 3 164200000 164206686 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822319,nsv822321 M 31 0 24 "" AK14,AK16,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 nsv499020 3 164200005 164206249 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585881 S 9 0 1 "" esv21723 3 164200023 164204911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12549 S 451 0 24 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18517,NA18858,NA18907,NA18916,NA19099,NA19147,NA19225 nsv514180 3 164200080 164204432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627617 S 1414 0 1 "" esv33280 3 164200110 164204855 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101530,essv101156,essv101216,essv100715,essv96754,essv94409,essv95292,essv95768,essv99119,essv93705,essv96674,essv96604,essv97231,essv99968,essv93399,essv99305,essv97638 M 51 0 15 "" 21603,21618,21656,21659,21808,21872,21911,21938,21972,22011,22075,22086,22170,22275,22278 nsv515724 3 164209941 164369152 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664578,nssv693640 M 2026 2 0 "" nsv509858 3 164213832 164219832 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618589,nssv621215 M 4 0 2 "" CHM,NA15510 nsv10348 3 164227015 164231094 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12548,nssv12313 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18504 esv1009184 3 164233230 164233230 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584228 S 3 1 0 "" HuRef esv1051177 3 164233231 164233231 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974202 S 2 1 0 "" HuRef nsv4095 3 164244403 164271025 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10371 S 9 0 1 "" NA18956 nsv511199 3 164245767 164255727 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626543 S 1 0 1 "" 1 esv2640060 3 164246394 164252988 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337003 S 1 0 1 "" NA18507 esv2472496 3 164246660 164251983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260218 S 1 0 1 "" NA18507 dgv113e180 3 164247036 164252067 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008728,esv1006480 M 3 0 1 "" HuRef nsv435749 3 164247036 164253726 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466045 S 2 0 1 "" NA15510 esv2301108 3 164247407 164251976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924400 S 1 0 1 "" NA18507 nsv513093 3 164247444 164251805 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626581 S 1 0 1 "" 1 esv4380 3 164247519 164251920 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26821 S 1 0 1 Single Asian sample YH "" YH nsv499021 3 164247595 164251779 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585882 S 9 0 1 "" nsv821523 3 164247619 164251776 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420349 S 1 0 1 "" NA10851 esv6658 3 164247622 164251777 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29099 S 1 0 1 "" SJK esv22710 3 164247638 164251756 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17450 S 451 17 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12156,NA12239,NA12414,NA12489,NA12749,NA18502,NA18505,NA19114,NA19129,NA19240 nsv822322 3 164247638 164252419 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431234,nssv1425662,nssv1423314,nssv1431982,nssv1423768,nssv1440277,nssv1434343,nssv1425086,nssv1421618,nssv1439096,nssv1435793,nssv1424898,nssv1436512,nssv1426565,nssv1432755,nssv1429722,nssv1438739,nssv1427414,nssv1439604,nssv1425594,nssv1437365,nssv1428190,nssv1424112,nssv1430500,nssv1438082,nssv1422522,nssv1433571,nssv1428969,nssv1440986,nssv1435004 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514181 3 164248208 164250816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627618 S 1414 0 1 "" nsv877795 3 164271753 164356627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580065 S 6533 0 1 "" IS35229 nsv509859 3 164319663 164325663 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623922 S 4 0 1 "" NA18994 dgv5302n71 3 164322667 164457794 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877797,nsv877796 M 6533 0 6 LOC647107 MS13148,MS24968,SP50767,SP54239,SP81009,SP81194 nsv822323 3 164335723 164430163 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425097 S 31 0 1 LOC647107 NA18968 esv34284 3 164339992 164428992 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980200,essv6980201,essv6989155,essv6987736 M 771 0 1 LOC647107 NA18968 dgv626n27 3 164340172 164428528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460960,nsv460961 M 1557 0 2 LOC647107 HGDP00962,HGDP01180 nsv818184 3 164340172 164428528 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417510 S 112 0 1 LOC647107 NA18968 nsv877798 3 164341865 164408432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548104 S 6533 0 1 LOC647107 MS17697 dgv1532e1 3 164344333 164432679 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1206,essv1720 M 271 0 0 LOC647107 NA18968 nsv877799 3 164344807 164624856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526276 S 6533 0 1 LOC647107 SP57148 nsv877800 3 164369767 164417803 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504828,nssv1569444 M 6533 1 1 LOC647107 IS31581,SP52762 nsv877801 3 164369767 164457794 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519681 S 6533 1 0 LOC647107 SP50145 nsv524743 3 164457794 165068663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700734 S 2026 0 1 LOC647107 nsv877802 3 164458827 164683559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537660 S 6533 0 1 LOC647107 MS13292 nsv877803 3 164473177 164589630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589424 S 6533 0 1 LOC647107 IS38352 nsv877804 3 164546085 164764164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594522 S 6533 0 1 "" IS39923 nsv471005 3 164557764 164706541 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544532 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00916 dgv5303n71 3 164557764 164716204 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877805,nsv877806,nsv877807 M 6533 0 3 "" IS30477,IS33839,IS37730 nsv822324 3 164560233 164562401 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436513 S 31 0 1 "" NA18542 nsv4096 3 164568543 164596439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv346,nssv10372,nssv7048,nssv4693 M 9 4 0 "" NA12156,NA18956,NA19129,NA19240 nsv508964 3 164584010 164590015 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619343,nssv623393 M 4 2 0 "" NA10860,NA18994 esv988116 3 164586256 164587131 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565690 S 3 1 0 "" HuRef nsv829779 3 164622324 164669925 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443211,nssv1443212 M 95 2 0 "" dgv5304n71 3 164653382 164756392 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877808,nsv877809 M 6533 0 2 "" IS31094,IS34599 nsv507135 3 164674498 164680498 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621729,nssv622875 M 4 2 0 "" NA10860,NA18994 dgv5305n71 3 164732781 165010119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877811,nsv877810 M 6533 0 2 "" IS35229,IS39011 dgv5306n71 3 164795924 165244519 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877812,nsv877816,nsv877813,nsv877814,nsv877819 M 6533 6 0 "" MS10393,MS13916,SP56197,SP56640,SP81091,SP81557 dgv5307n71 3 164805722 165010119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877818,nsv877815,nsv877817 M 6533 0 3 "" IS32607,IS39718,SP57027 esv33827 3 164887876 164904794 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100735 S 51 0 1 "" 21656 nsv4097 3 164899329 164922945 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10373 S 9 1 0 "" NA18956 esv2249020 3 164910690 164911011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583352 S 1 0 1 "" NA18507 esv1521271 3 164910784 164910854 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067673 S 2 0 1 "" HuRef esv2559857 3 164946150 164947763 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258234 S 1 0 1 "" NA18507 esv1985272 3 164946676 164947359 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624532 S 1 0 1 "" NA18507 esv3245 3 164946781 164947281 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25686 S 1 0 1 Single Asian sample YH "" YH esv8631 3 164946838 164947192 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31072 S 1 0 1 "" SJK dgv129n6 3 164946862 164947175 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv236185,nsv236280 M 24 "" esv1253153 3 164946869 164947175 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182785 S 2 0 1 "" HuRef nsv4098 3 164959381 164994613 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv347 S 9 1 0 "" NA19240 nsv829780 3 165009082 165161602 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443213 S 95 1 0 "" nsv508259 3 165016450 165035836 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622473 S 4 0 1 "" NA18994 dgv5308n71 3 165039857 165649779 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877820,nsv877825 M 6533 0 2 "" IS33533,MS17114 nsv877821 3 165049762 165099574 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598074 S 6533 0 1 "" IS41292 nsv822325 3 165080357 165081030 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425664 S 31 1 0 "" AK4 nsv829781 3 165083327 165244589 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443214 S 95 1 0 "" nsv822326 3 165084841 165085778 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425665 S 31 1 0 "" AK4 dgv1533e1 3 165085143 165392754 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10124,esv308 M 271 0 0 "" NA19130 nsv428425 3 165085143 165392754 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454290 S 62 0 1 "" HGDP00462 dgv5309n71 3 165099786 165210770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877822,nsv877824 M 6533 0 2 "" IS33786,IS35572 nsv877823 3 165103612 165153765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568662 S 6533 0 1 "" IS31330 dgv5310n71 3 165128131 165194191 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877826,nsv877827 M 6533 0 2 "" IS31166,MS18387 nsv436926 3 165132875 165149878 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466807 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07019 esv28007 3 165141653 165147820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18562 S 451 0 1 "" NA11931 nsv517516 3 165144226 165147911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698138,nssv669605,nssv657618,nssv656043,nssv689097,nssv660870,nssv681768,nssv654346,nssv680539,nssv652250,nssv675006,nssv680001 M 2026 0 12 "" nsv437895 3 165145085 165146979 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467866,nssv467865 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07019,NA07056 nsv10349 3 165150921 165155373 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28802 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 dgv838n67 3 165151637 165155208 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822327,nsv822328 M 31 2 0 "" AK20,NA18997 dgv839n67 3 165152347 165155118 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822333,nsv822332,nsv822334,nsv822330,nsv822329 M 31 12 0 "" AK10,AK4,NA18526,NA18547,NA18552,NA18566,NA18570,NA18592,NA18949,NA18968,NA18969,NA18999 esv990783 3 165152811 165155077 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587016 S 3 0 1 "" HuRef nsv877828 3 165153765 165230083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542173 S 6533 0 1 "" MS15704 nsv877829 3 165160871 165201748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557421 S 6533 0 1 "" MS22677 esv267966 3 165191880 165192219 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515412,essv2515013 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12812 dgv5311n71 3 165194191 165259929 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877831,nsv877830 M 6533 0 2 "" IS31045,MS15199 nsv460965 3 165196245 165296446 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537435 S 1557 1 0 "" NINDS_200 nsv877832 3 165197324 165217908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594021 S 6533 0 1 "" IS39666 esv2469949 3 165211145 165212899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344734 S 1 0 1 "" NA18507 nsv236949 3 165211524 165212054 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255527 M 24 "" esv26903 3 165220603 165223514 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17165 S 451 1 0 "" NA12828 dgv5312n71 3 165244519 165682914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877840,nsv877852,nsv877839,nsv877843,nsv877847,nsv877858,nsv877833,nsv877836 M 6533 0 15 "" IS31067,IS31094,IS31137,IS31179,IS31285,IS31330,IS31373,IS31581,IS33616,IS33839,IS35181,IS35189,IS36656,IS37065,MS18620 dgv5313n71 3 165278658 165500738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877835,nsv877838,nsv877834 M 6533 0 3 "" IS31228,IS34896,IS41263 nsv877837 3 165305880 165413369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598814 S 6533 0 1 "" IS41317 nsv520501 3 165315682 165445179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697457 S 2026 0 1 "" nsv829783 3 165317568 165466432 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443215 S 95 1 0 "" dgv5314n71 3 165317964 165393462 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877844,nsv877845,nsv877841,nsv877842 M 6533 0 4 "" IS30635,IS37214,MS16531,MS23486 dgv5315n71 3 165319181 165529195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877856,nsv877857,nsv877855,nsv877846 M 6533 0 5 "" IS31563,IS31564,IS32150,IS39944,MS20872 nsv10351 3 165325436 165327726 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29152 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 dgv5316n71 3 165340131 165420740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877851,nsv877850,nsv877848,nsv877854 M 6533 0 4 "" IS30667,IS35244,IS35498,IS38724 nsv877849 3 165340131 165575680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570427 S 6533 0 1 "" IS32006 nsv877853 3 165347556 165393462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568468 S 6533 0 1 "" IS31286 dgv5317n71 3 165384881 165421494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877859,nsv877860 M 6533 0 4 "" IS35053,IS35911,IS39011,MS10228 dgv5318n71 3 165384881 165464238 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877862,nsv877861 M 6533 0 2 "" MS10098,MS10126 dgv5319n71 3 165384881 165509032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877863,nsv877874,nsv877876,nsv877880,nsv877872,nsv877873 M 6533 0 11 "" IS35701,IS35789,IS36640,IS37467,IS41771,IS41832,IS41848,IS41921,MS20813,MS23531,SP52694 dgv5320n71 3 165384881 165571358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877881,nsv877867,nsv877866,nsv877864 M 6533 0 4 "" IS37428,IS41791,IS41803,MS11467 dgv5321n71 3 165384881 165620825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877865,nsv877887,nsv877886 M 6533 0 5 "" IS31259,IS33832,IS35743,MS23290,MS23670 nsv436380 3 165391791 165395343 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466046 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv5322n71 3 165400035 165464238 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv877877,nsv877868 M 6533 2 9 "" IS30292,IS34758,IS35242,IS35993,IS40627,IS41894,IS41898,MS18553,MS20196,MS20630,MS22705 dgv5323n71 3 165400035 165471769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877869,nsv877870,nsv877878,nsv877879,nsv877871 M 6533 0 10 "" IS30196,IS30378,IS34830,IS41802,IS41881,MS17359,MS19414,MS21863,MS22756,MS23257 dgv5324n71 3 165400035 165509032 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877875,nsv877885 M 6533 4 0 "" IS30139,MS16944,MS17580,MS18240 dgv5325n71 3 165424247 165500738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877888,nsv877883,nsv877882 M 6533 0 3 "" IS33475,MS18978,MS23486 nsv877884 3 165424247 165500738 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536508,nssv1588018,nssv1566247,nssv1584986,nssv1568811,nssv1551284,nssv1535551,nssv1589242,nssv1560618,nssv1537921,nssv1541531,nssv1581824,nssv1597054,nssv1577759 M 6533 7 7 "" IS30620,IS31346,IS34555,IS35742,IS37226,IS38145,IS38330,IS40728,MS12266,MS12827,MS13426,MS15347,MS18847,MS24600 nsv460966 3 165434580 165487506 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537436 S 1557 0 1 "" NINDS_178 nsv877889 3 165451319 165500738 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583854,nssv1583210 M 6533 1 1 "" IS36320,IS36689 dgv5326n71 3 165471769 165609496 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877890,nsv877891 M 6533 0 5 "" IS30597,IS31286,IS33580,IS37974,MS22104 dgv5327n71 3 165471769 165684739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877893,nsv877892 M 6533 0 2 "" IS35771,MS23295 esv989593 3 165471853 165476285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565449 S 3 0 1 "" HuRef nsv877894 3 165509032 165592071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512313 S 6533 1 0 "" SP55424 dgv5328n71 3 165529195 165620825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877896,nsv877895 M 6533 0 8 "" IS30532,IS31044,IS31554,IS31758,IS34489,IS34962,IS39923,IS41113 nsv509860 3 165545606 165551606 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621216 S 4 0 1 "" NA15510 nsv518351 3 165558892 165562128 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695779 S 2026 0 1 "" nsv523243 3 165571358 165575680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698972 S 2026 0 1 "" nsv471016 3 165571358 165639657 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544543 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv428426 3 165583448 167080217 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454291 S 62 0 1 BCHE,SI,SLITRK3 HGDP00449 nsv822335 3 165583758 165584482 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425606 S 31 1 0 "" NA18947 nsv525280 3 165583887 165592071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701383 S 2026 0 1 "" nsv509861 3 165584273 165590273 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623923 S 4 0 1 "" NA18994 esv29741 3 165600565 165608734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14923,esv20688 M 451 0 3 "" NA15510,NA18909,NA19108 nsv822336 3 165608178 165608786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440988,nssv1436514,nssv1439118 M 31 0 3 "" NA18542,NA18547,NA18969 esv2226667 3 165637931 165638362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660960 S 1 0 1 "" NA18507 nsv236203 3 165638300 165638359 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254781 M 24 "" esv21726 3 165650773 165671179 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11902 S 451 0 1 "" NA19147 esv1924608 3 165670895 165671342 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811098 S 1 0 1 "" NA18507 nsv877897 3 165690133 165812788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582431 S 6533 0 1 "" IS35952 nsv515852 3 165707844 165735917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658457,nssv665209,nssv652208,nssv677244,nssv655010,nssv680917 M 2026 0 6 "" dgv5329n71 3 165727113 165917990 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877898,nsv877899 M 6533 0 2 "" IS36656,IS37226 nsv4100 3 165783447 165811717 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4694 S 9 0 1 "" NA19129 nsv499022 3 165784887 165794633 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585883 S 9 0 1 "" esv26046 3 165785282 165794469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13144 S 451 0 1 "" NA19129 nsv514184 3 165786224 165793728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627619 S 1414 0 1 "" nsv877900 3 165822661 165856350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507405 S 6533 1 0 "" SP54672 nsv829784 3 165834462 166061277 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443217,nssv1443216 M 95 1 1 "" nsv877901 3 165846066 165874115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534104 S 6533 0 1 "" MS11467 dgv5330n71 3 165852738 165917990 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877902,nsv877903 M 6533 0 5 "" IS31849,IS34896,IS36787,MS18620,MS20146 nsv509862 3 165859228 165865228 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621217 S 4 0 1 "" NA15510 nsv460968 3 165862723 165897903 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537437 S 1557 0 1 "" 1782681091_A esv1998199 3 165864149 165864537 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608082 S 1 0 1 "" NA18507 nsv877904 3 165881919 166160043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580221 S 6533 0 1 "" IS35244 nsv526927 3 165897321 165897903 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703292 S 2026 0 1 "" esv2086650 3 165946672 165947141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539068 S 1 0 1 "" NA18507 dgv5331n71 3 165990556 166279334 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877905,nsv877906 M 6533 0 2 SI IS38162,IS41317 nsv521011 3 166006953 166030858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690105,nssv679804 M 2026 0 2 "" nsv829785 3 166061278 166197472 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443219 S 95 0 1 SI esv269185 3 166064401 166064486 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517138 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv509863 3 166091919 166097919 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621218 S 4 0 1 "" NA15510 dgv5332n71 3 166114932 166345704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877907,nsv877908 M 6533 0 7 SI IS31044,MS12827,MS15199,MS15312,MS17114,MS18847,MS18978 nsv509864 3 166140270 166146270 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623924 S 4 0 1 "" NA18994 nsv518452 3 166230624 166279334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695889 S 2026 0 1 SI esv2577226 3 166254952 166256441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236434 S 1 0 1 SI NA18507 esv1790170 3 166293403 166293518 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800617 S 2 0 1 "" HuRef nsv4101 3 166333708 166367738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7893 S 9 1 0 "" NA12156 dgv5333n71 3 166409299 166537385 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877909,nsv877912,nsv877910 M 6533 0 4 "" IS30531,IS31259,IS31553,IS31554 dgv5334n71 3 166409299 166612728 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877913,nsv877915,nsv877914,nsv877916,nsv877911 M 6533 0 5 "" IS35229,IS35911,IS36219,IS39011,IS41113 nsv877917 3 166486499 166766442 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548707 S 6533 1 0 "" MS17878 esv1575834 3 166494277 166494520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925568 S 2 0 1 "" HuRef dgv5335n71 3 166509373 166612728 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877918,nsv877919 M 6533 0 2 "" MS12827,MS18847 nsv10352 3 166514224 166566272 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29224 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 dgv1534e1 3 166523557 166615491 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19055,esv1250,essv19740 M 271 0 0 "" NA10859,NA11830 esv22741 3 166523684 166566049 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10222 S 451 0 1 "" NA11894 nsv441848 3 166523806 166564633 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1535e1 3 166523810 166545462 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19878,essv23322 M 271 0 0 "" NA11881,NA12264 nsv514185 3 166524192 166564656 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627620 S 1414 0 1 "" esv2421874 3 166524242 166564633 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5154087,essv5048375,essv5110345,essv5143553,essv5137592,essv5153190,essv5009488,essv5058406,essv5115947,essv5079648,essv5081123,essv5089566,essv5120521,essv5024532,essv5018539,essv5122303 M 1184 0 16 "" NA10859,NA11830,NA11881,NA11894,NA12264,NA12739,NA12748,NA19651,NA19653,NA19669,NA19783,NA20517,NA20588,NA20790,NA21367,NA21378 nsv515674 3 166531645 166559986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659275,nssv659614,nssv678794,nssv662205,nssv677277,nssv651748,nssv666879,nssv683807,nssv686500,nssv666519,nssv670632,nssv682331,nssv664902,nssv691526,nssv693262,nssv651677,nssv669250,nssv651964,nssv683715,nssv665711,nssv657055,nssv652479,nssv656494,nssv686917,nssv675368,nssv683862,nssv689043,nssv658302,nssv703955,nssv687366,nssv661567,nssv680018,nssv662630 M 2026 0 33 "" nsv818185 3 166531645 166559986 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418056,nssv1418055,nssv1417327 M 112 0 3 "" NA10859,NA11881,NA12264 nsv460971 3 166531645 166766442 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537438 S 1557 1 0 "" 1787431197_A nsv437896 3 166539047 166547854 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467868,nssv467867 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10859,NA11881 nsv460972 3 166567237 166581607 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537439 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01317 dgv5336n71 3 166593086 166630062 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877921,nsv877920 M 6533 0 2 "" SP53041,SP56143 nsv10353 3 166607889 166610847 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11643 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07048 esv268051 3 166662890 166663014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558624,essv2530769,essv2532449,essv2578803,essv2527352,essv2568947,essv2527814,essv2562353,essv2526426,essv2574706,essv2545032,essv2548102,essv2549659,essv2533187 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12750,NA12873,NA18505,NA18510,NA18522,NA18861,NA18907,NA18909,NA19114,NA19138,NA19172,NA19210,NA19225 esv1928379 3 166699219 166699578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4529781 S 1 0 1 "" NA18507 dgv5337n71 3 166710137 166819536 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877922,nsv877923 M 6533 0 3 "" IS31094,IS35911,MS17114 nsv460974 3 166741704 166772118 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537440 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01411 nsv877924 3 166741704 166799304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581066 S 6533 0 1 "" IS35498 nsv10354 3 166744689 166779322 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29117 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv437348 3 166746390 166781788 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467229 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 nsv818186 3 166747883 166750602 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417010 S 112 0 1 "" NA06994 nsv517496 3 166747883 166772118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659538,nssv669673,nssv680002,nssv688665,nssv691026,nssv656288,nssv677245,nssv693575,nssv654211,nssv658257,nssv665538,nssv690159,nssv701425,nssv667826,nssv690916,nssv690049,nssv688888,nssv653577,nssv658073,nssv654591,nssv666855,nssv671234,nssv656186,nssv654019,nssv662821,nssv683213,nssv684910,nssv670657,nssv684698,nssv688799,nssv669158,nssv676938,nssv668295,nssv658022,nssv683762,nssv681741,nssv684030,nssv666156,nssv665905,nssv656547,nssv671476,nssv690408 M 2026 0 42 "" nsv818187 3 166747883 166772118 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418260,nssv1417847,nssv1417846,nssv1418258 M 112 0 4 "" NA18853,NA18854,NA19092,NA19094 esv2421590 3 166747883 166779809 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142390,essv5151910,essv5024725,essv5033298,essv5147738,essv5010427,essv5021254,essv5052577,essv5143946,essv5135686,essv5004365,essv5055976,essv5025392,essv5101889,essv5030459,essv5035043,essv5050373,essv5096499,essv5126554,essv5073985,essv5157053,essv5142029,essv5105288,essv5054929,essv5064976,essv5107064,essv5144542,essv5152920,essv5085065,essv5158230,essv5121372,essv5103908,essv5045200,essv5050134,essv5101450,essv5059616,essv5020145,essv5153041,essv5138309,essv5144850,essv5066333,essv5014084 M 1184 0 42 "" NA18499,NA18853,NA18854,NA18855,NA18857,NA18870,NA18872,NA18909,NA19094,NA19197,NA19199,NA19204,NA19235,NA19247,NA19313,NA19315,NA19350,NA19376,NA19379,NA19393,NA19404,NA19446,NA19449,NA19722,NA19724,NA20342,NA20343,NA21297,NA21301,NA21317,NA21364,NA21370,NA21493,NA21494,NA21521,NA21526,NA21527,NA21580,NA21599,NA21601,NA21613,NA21682 nsv818188 3 166747883 166797069 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416329,nssv1416330 M 112 0 2 "" NA18855,NA18857 esv29834 3 166749487 166779334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15911 S 451 0 1 "" NA18909 nsv442881 3 166751814 166779809 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514186 3 166754464 166779776 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627621 S 1414 0 1 "" nsv877925 3 166760593 166799304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568041,nssv1571150 M 6533 0 2 "" IS31189,IS32615 nsv877926 3 166760593 166819536 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570331,nssv1566334,nssv1593226,nssv1545196,nssv1551287,nssv1568621,nssv1583768,nssv1555262,nssv1542174,nssv1535552,nssv1589243,nssv1598050,nssv1541418,nssv1591982,nssv1567355,nssv1537922,nssv1562812,nssv1581968,nssv1600629,nssv1566266,nssv1588656,nssv1581883,nssv1579611,nssv1551726,nssv1532036,nssv1570130,nssv1532139 M 6533 4 23 "" IS30635,IS30667,IS31070,IS31323,IS31812,IS31904,IS35145,IS35743,IS35771,IS36656,IS38231,IS38330,IS39119,IS39373,IS41043,IS41906,MS10699,MS10727,MS12266,MS13426,MS15312,MS15704,MS16708,MS18847,MS18978,MS21252,MS25751 nsv877927 3 166760593 166867543 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579779 S 6533 1 0 "" IS35180 nsv877928 3 166760593 166897531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522004 S 6533 0 1 "" SP52694 nsv10355 3 166766302 166806045 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29243 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 dgv5338n71 3 166768991 166819796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877931,nsv877930,nsv877929,nsv877933,nsv877932 M 6533 0 12 "" IS30593,IS30597,IS30925,IS31166,IS31373,IS37730,IS38610,IS39718,SP50665,SP55513,SP55647,SP57665 nsv437897 3 166797069 166802835 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467870,nssv467871,nssv467872,nssv467873,nssv467869 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA07056,NA10863,NA11840,NA12740,NA12801 esv273265 3 166819473 166819831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580649 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270536 3 166819490 166819820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540852,essv2536734,essv2548233,essv2550293,essv2537235,essv2528446,essv2552496,essv2550221,essv2558949,essv2561489,essv2544919,essv2534885,essv2568889,essv2533986,essv2526821,essv2529836,essv2575041,essv2526378,essv2574873,essv2530313,essv2568639,essv2545897,essv2574409,essv2533416 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11831,NA11920,NA12045,NA12234,NA12878,NA12891,NA18502,NA18511,NA18516,NA18523,NA18526,NA18561,NA18861,NA18916,NA19005,NA19093,NA19102,NA19114,NA19138,NA19141,NA19147,NA19239,NA19240 nsv521681 3 166819536 166819796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698299 S 2026 0 1 "" nsv877934 3 166904092 167021162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564753 S 6533 1 0 BCHE IS30294 esv26718 3 166909852 166951975 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13856 S 451 3 0 "" NA07037,NA11995,NA12006 dgv5339n71 3 166918966 167088871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877935,nsv877937 M 6533 0 2 BCHE MS21356,MS23025 nsv877936 3 166930691 167041166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587551,nssv1583769 M 6533 0 2 BCHE IS36656,IS38065 dgv5340n71 3 166972853 167054703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877938,nsv877939 M 6533 0 2 BCHE MS14353,MS18847 dgv5341n71 3 166973974 167088871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877940,nsv877941 M 6533 0 9 BCHE IS32891,IS33747,IS34440,IS34805,IS40627,IS41803,IS41867,MS21868,MS22619 esv268149 3 166986463 166986538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2569484,essv2568935,essv2526617,essv2574800 M 157 4 0 Samples from several populations that are part of the HapMap project. BCHE NA18508,NA18861,NA19114,NA19138 nsv520596 3 166987871 167350172 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694018,nssv672965,nssv694618 M 2026 2 1 BCHE nsv877942 3 166990796 167088871 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553867,nssv1599030 M 6533 1 1 BCHE IS41179,MS20359 esv2454311 3 167061411 167062875 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338460 S 1 0 1 "" NA18507 esv998268 3 167061415 167061953 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564567 S 3 0 1 "" HuRef esv1070688 3 167061678 167061931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697975 S 2 0 1 "" HuRef dgv5342n71 3 167065205 167149248 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877943,nsv877944 M 6533 0 2 "" IS30742,IS38235 nsv877945 3 167069489 167113347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503999 S 6533 0 1 "" SP52160 esv27787 3 167137220 167138253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10717 S 451 0 2 "" NA18505,NA18909 esv2493406 3 167179554 167181002 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296876 S 1 0 1 "" NA18507 esv1979734 3 167180174 167180872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675741 S 1 0 1 "" NA18507 nsv877946 3 167209813 167365768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581364 S 6533 0 1 "" IS35572 esv275367 3 167221433 167235064 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585548,essv2585297 M 1250 1 1 "" nsv4102 3 167233355 167268757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3212 S 9 1 0 "" NA12878 nsv829786 3 167245820 167447088 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443220 S 95 0 1 "" nsv436389 3 167256848 167260332 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466047 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv522310 3 167268720 167424307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695090 S 2026 1 0 "" esv275381 3 167298414 167311098 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585766 S 1250 0 1 "" nsv877947 3 167326096 167415790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569713 S 6533 0 1 "" IS31679 nsv236646 3 167338916 167339066 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255224 M 24 "" nsv818190 3 167350172 167367746 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418057 S 112 0 1 "" NA10859 nsv520434 3 167365768 167612839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677154,nssv671376 M 2026 0 2 "" esv267951 3 167384705 167384790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519092 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv460977 3 167404510 167475424 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537441 S 1557 0 1 "" NINDS_91 dgv840n67 3 167470037 167470670 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822337,nsv822338 M 31 0 3 "" NA18968,NA18969,NA18997 esv26407 3 167536657 167538667 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13974,esv15433 M 451 0 2 "" NA18508,NA18909 nsv877948 3 167539095 167606917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506206 S 6533 0 1 "" SP54078 nsv442882 3 167539435 167547514 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv4103 3 167546158 167575430 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4695 S 9 1 0 "" NA19129 esv29797 3 167568725 167577328 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14146 S 451 1 0 "" NA18861 nsv442883 3 167573295 167576883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514187 3 167573520 167576896 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627622 S 1414 1 0 "" esv2421877 3 167605124 167623107 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022044,essv5015648,essv5116633,essv5043940,essv5069517,essv5112209,essv5152016,essv5095530,essv5125969,essv5085063,essv5152581,essv5090953,essv5129528 M 1184 13 0 "" NA19226,NA19308,NA19439,NA19714,NA19722,NA19724,NA21362,NA21363,NA21415,NA21454,NA21478,NA21485,NA21487 esv2520984 3 167624174 167625750 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205957 S 1 0 1 "" NA18507 esv268577 3 167660697 167660782 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514792 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 esv1507702 3 167667001 167667001 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126254 S 2 1 0 "" HuRef esv26738 3 167667135 167668630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19952 S 451 0 1 "" NA19108 nsv877949 3 167699930 167963253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583770,nssv1541106 M 6533 0 2 "" IS36656,MS15199 dgv5343n71 3 167761352 167914245 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877957,nsv877952,nsv877950,nsv877951 M 6533 0 8 "" IS30490,IS31335,IS31373,IS31602,IS37059,IS39011,IS39788,MS22104 nsv471027 3 167766851 167826493 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544554 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01370 nsv460982 3 167786885 167902738 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537442 S 1557 0 1 "" NINDS_183 nsv4104 3 167786893 167821434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3114 S 9 1 0 "" NA18555 dgv5344n71 3 167787258 167963253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877958,nsv877960,nsv877953,nsv877954,nsv877955 M 6533 0 9 "" IS30432,IS31054,IS31137,IS35229,IS36219,IS40067,MS10727,MS12827,MS18847 nsv877956 3 167787258 168013327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584020 S 6533 0 1 "" IS36787 nsv877959 3 167794412 167963253 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569248,nssv1581969,nssv1577760 M 6533 1 2 "" IS31554,IS34555,IS35771 nsv471038 3 167805691 167966753 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544565 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv518173 3 167825393 167826494 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695594 S 2026 0 1 "" nsv526769 3 167825393 167826494 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703121 S 2026 1 0 "" dgv5345n71 3 167840260 167963253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877962,nsv877961 M 6533 0 3 "" IS31041,IS36244,MS13426 esv2489137 3 167844421 167845345 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226146 S 1 1 0 "" NA18507 esv274428 3 167844975 167845252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580314,essv2580725,essv2579252,essv2579774 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv269827 3 167844980 167845226 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565684,essv2546386,essv2521220,essv2542442,essv2536544,essv2570905,essv2523290,essv2577600,essv2521760,essv2550590,essv2535200,essv2553992,essv2520659,essv2547338,essv2577974,essv2565374,essv2576415,essv2554926,essv2530538,essv2562081,essv2546818,essv2540029,essv2520965,essv2557327,essv2557120,essv2552475,essv2551813,essv2532443,essv2562594,essv2569425,essv2578505,essv2558856,essv2539087,essv2527258,essv2561532,essv2544811,essv2542815,essv2524602,essv2561257,essv2549526,essv2530923,essv2566766,essv2542094,essv2551116,essv2543691,essv2528145,essv2562447,essv2539398,essv2533960,essv2555189,essv2567261,essv2534311,essv2522554,essv2577044,essv2526765,essv2529440,essv2575620,essv2575262,essv2538636,essv2526672,essv2560561,essv2524105,essv2574554,essv2572643,essv2568820,essv2560306,essv2549670,essv2571195,essv2545910,essv2574391,essv2551539,essv2538050,essv2554561,essv2547725,essv2524870 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA07357,NA11829,NA11881,NA11894,NA11919,NA11920,NA11993,NA12004,NA12043,NA12144,NA12155,NA12249,NA12287,NA12716,NA12717,NA12761,NA12812,NA12814,NA12872,NA12873,NA12874,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18523,NA18526,NA18550,NA18555,NA18562,NA18564,NA18573,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18912,NA18916,NA18943,NA18947,NA18959,NA18960,NA18970,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv510939 3 167847297 167897259 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621567 S 4 0 0 "" NA15510 esv269682 3 167847329 167847414 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513794 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv267601 3 167872882 167873224 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516730,essv2519283,essv2515656,essv2518086,essv2516131,essv2514489,essv2518965 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA12815,NA12872,NA12873,NA12874,NA19141 esv1590867 3 167872924 167872924 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094890 S 2 1 0 "" HuRef nsv507136 3 167879892 167885892 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621730,nssv617618 M 4 2 0 "" CHM,NA10860 nsv471049 3 167892649 167945488 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544576 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01412 nsv523505 3 167914245 167914861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699276 S 2026 0 1 "" nsv877963 3 167915185 168005541 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566028 S 6533 0 1 "" IS30562 nsv508261 3 167959084 167979597 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619927 S 4 0 1 "" NA15510 nsv877964 3 167966753 168103549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600251,nssv1577417,nssv1600035 M 6533 0 3 "" IS34440,IS41832,IS41863 nsv877965 3 167992070 168178319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553274 S 6533 0 1 "" MS19891 nsv518359 3 167999944 168016121 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695786 S 2026 1 0 "" dgv5346n71 3 167999944 168103549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877966,nsv877968,nsv877967 M 6533 0 7 "" IS30147,IS30311,IS41964,MS19226,MS19808,MS21189,MS23025 nsv441849 3 168005537 168013637 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv525395 3 168005541 168016121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701518 S 2026 0 1 "" nsv818191 3 168005541 168016121 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416649 S 112 1 0 "" NA12043 esv271178 3 168027259 168027344 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514661,essv2516732,essv2517458,essv2514131,essv2518676,essv2515012,essv2516390,essv2514352 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11918,NA12043,NA12045,NA12812,NA12814,NA12874 esv1514992 3 168027297 168027297 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273202 S 2 1 0 "" HuRef esv267417 3 168078010 168078362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496738,essv2509916,essv2506157,essv2495498,essv2498660,essv2496961,essv2502204 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18523,NA18916,NA19138,NA19190,NA19257 nsv515786 3 168079768 168111047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687452,nssv664781 M 2026 0 2 "" esv1029053 3 168217859 168217859 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903935 S 2 1 0 "" HuRef esv1121506 3 168217888 168217888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694164 S 2 1 0 "" HuRef esv22686 3 168327065 168331117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16906 S 451 0 8 "" NA18517,NA18523,NA18907,NA19099,NA19108,NA19114,NA19190,NA19225 nsv822339 3 168327275 168329067 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432756,nssv1425620,nssv1425667,nssv1424899,nssv1434345 M 31 0 5 "" AK2,AK4,NA18570,NA18947,NA18972 esv28221 3 168622546 168637601 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15057 S 451 1 0 "" NA12828 nsv877969 3 168639123 168691778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517871 S 6533 0 1 SERPINI2,WDR49 SP57401 esv26146 3 168731103 168732196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16968 S 451 0 12 WDR49 NA07037,NA11995,NA12156,NA15510,NA18508,NA18907,NA19099,NA19108,NA19129,NA19147,NA19225,NA19240 nsv4105 3 168923990 168954555 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2429 S 9 1 0 PDCD10,SERPINI1 NA18555 nsv460986 3 169024676 169077645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537443 S 1557 0 1 SERPINI1 NINDS_221 nsv10356 3 169035422 169040283 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12960 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv10357 3 169045083 169049557 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12990 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv522926 3 169118512 169157392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698588 S 2026 0 1 LOC646168 esv272108 3 169137247 169137332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519336 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11894 esv1352598 3 169155979 169156029 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051837 S 2 0 1 "" HuRef esv2627626 3 169159810 169161219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267285 S 1 0 1 "" NA18507 esv2606151 3 169201148 169201412 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265410 S 1 1 0 "" NA18507 nsv829787 3 169224512 169423070 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443221 S 95 1 0 GOLIM4 esv26147 3 169314002 169315246 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15479 S 451 0 1 "" NA19190 nsv829788 3 169650084 169826782 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443222,nssv1443223 M 95 0 2 EGFEM1P,MIR551B nsv877970 3 169666200 169744609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550218 S 6533 0 1 EGFEM1P MS18375 esv267515 3 169681740 169681980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540950,essv2548221,essv2576565,essv2535353,essv2558482,essv2564742,essv2577886,essv2565303,essv2569792,essv2544948,essv2562825,essv2523802,essv2540496,essv2534654,essv2519568,essv2560162,essv2565925,essv2532666,essv2563904,essv2535702,essv2559251,essv2543543,essv2572968,essv2555196,essv2533713,essv2555964,essv2534451,essv2573676 M 157 28 0 Samples from several populations that are part of the HapMap project. EGFEM1P NA11831,NA12045,NA12154,NA12249,NA12750,NA12751,NA12761,NA12812,NA18520,NA18526,NA18532,NA18537,NA18552,NA18561,NA18566,NA18570,NA18572,NA18576,NA18603,NA18608,NA18638,NA18870,NA18942,NA18943,NA18944,NA18956,NA18959,NA18964 nsv877971 3 169685517 169794376 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548708 S 6533 1 0 EGFEM1P,MIR551B MS17878 nsv829789 3 169744817 169949686 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443224 S 95 1 0 EGFEM1P,MIR551B dgv1536e1 3 169771708 169985804 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv414,essv6724 M 271 0 0 EGFEM1P NA18608 nsv520411 3 169862597 169865982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671235,nssv693696 M 2026 0 2 EGFEM1P nsv4106 3 169871559 169898558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10374 S 9 1 0 EGFEM1P NA18956 nsv4107 3 169892819 169937734 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7894 S 9 0 1 EGFEM1P NA12156 esv26580 3 169911677 169915428 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10961 S 451 0 1 EGFEM1P NA18861 nsv877972 3 170054173 170123628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584988 S 6533 0 1 "" IS37226 nsv829790 3 170074359 170264452 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443225 S 95 0 1 "" nsv877973 3 170078164 170175151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582540 S 6533 0 1 "" IS35993 esv2577736 3 170089467 170091270 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283115 S 1 0 1 "" NA18507 esv2198629 3 170089902 170090772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971153 S 1 0 1 "" NA18507 nsv877974 3 170209418 170263971 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548709 S 6533 1 0 "" MS17878 esv3854 3 170221065 170221706 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26295 S 1 0 1 Single Asian sample YH "" YH nsv819284 3 170221124 170221516 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418935 S 2 1 0 "" AK1 nsv7356 3 170335129 179489597 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9632 S 9 0 0 ARPM1,CLDN11,ECT2,EIF5A2,FNDC3B,GHSR,GPR160,LOC100128164,LRRC31,LRRC34,LRRIQ4,MECOM,MIR4789,MIR569,MYNN,NAALADL2,NCEH1,NLGN1,PHC3,PLD1,PRKCI,RPL22L1,SAMD7,SEC62,SKIL,SLC2A2,SLC7A14,SPATA16,TBL1XR1,TERC,TMEM212,TNFSF10,TNIK NA18507 esv272132 3 170368416 170368501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515447,essv2517779 M 157 2 0 Samples from several populations that are part of the HapMap project. MECOM NA12249,NA12878 esv272478 3 170368416 170368501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581460 S 7 1 0 Samples from several populations that are part of the HapMap project. MECOM NA12878 esv2594592 3 170503776 170505319 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246064 S 1 0 1 MECOM NA18507 nsv877975 3 170507508 170529878 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551441 S 6533 1 0 MECOM MS18876 nsv528819 3 170580630 170581686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705493 S 2026 0 1 MECOM nsv4108 3 170589199 170607272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3213 S 9 1 0 MECOM NA12878 nsv829791 3 170598516 170623022 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443245,nssv1443246,nssv1443248,nssv1443227,nssv1443234,nssv1443226,nssv1443247,nssv1443233,nssv1443228,nssv1443230,nssv1443232,nssv1443231,nssv1443249,nssv1443235,nssv1443236,nssv1443237,nssv1443238,nssv1443239,nssv1443241,nssv1443242,nssv1443244,nssv1443243 M 95 0 22 MECOM nsv829792 3 170626262 170771110 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443250 S 95 0 1 MECOM esv271921 3 170627656 170627741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517077 S 157 1 0 Samples from several populations that are part of the HapMap project. MECOM NA11931 nsv508965 3 170728918 170757869 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623394 S 4 1 0 MECOM NA18994 nsv4109 3 170749165 170758014 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3115 S 9 1 0 MECOM NA18555 esv2844 3 170751250 170751628 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25285 S 1 0 1 Single Asian sample YH MECOM YH esv7580 3 170751283 170751577 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30021 S 1 0 1 MECOM SJK esv268746 3 170753254 170753617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493369,essv2510718,essv2494365,essv2504278,essv2496296,essv2494716,essv2506261,essv2498470,essv2507285,essv2507368,essv2495692,essv2501341,essv2506865,essv2499064,essv2502134,essv2503655,essv2503948 M 157 17 0 Samples from several populations that are part of the HapMap project. MECOM NA06986,NA07037,NA12776,NA18501,NA18502,NA18505,NA18511,NA18519,NA18523,NA18858,NA18870,NA18912,NA18916,NA19093,NA19102,NA19114,NA19257 nsv4111 3 170823709 170869836 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7049 S 9 0 1 MECOM NA12156 esv275118 3 170831638 170835152 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585964 S 1250 0 1 MECOM esv24422 3 170834917 170842341 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19419 S 451 1 0 MECOM NA12156 esv2422204 3 170836640 171075566 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161467 S 181 0 1 ARPM1,LRRC31,LRRC34,LRRIQ4,MECOM,MYNN,TERC ND03834 esv274255 3 170956963 170957304 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580228,essv2580446,essv2579231,essv2579763 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv269034 3 170956984 170957318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518646,essv2516431,essv2515540,essv2515958,essv2516235,essv2519409,essv2513670 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12287,NA12814,NA12815,NA12873,NA12891 esv2503104 3 170969476 170970473 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294158 S 1 1 0 ARPM1 NA18507 nsv460987 3 170992346 171141964 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537444 S 1557 0 1 LRRC31,LRRC34,LRRIQ4,SAMD7 NINDS_230 esv274240 3 171006972 171007324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579959,essv2580795,essv2579179,essv2579714 M 7 4 0 Samples from several populations that are part of the HapMap project. LRRC34 NA12892,NA19238,NA19239,NA19240 nsv237474 3 171028113 171030859 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256052 M 24 LRRIQ4 esv28323 3 171082803 171084573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11775 S 451 0 1 "" NA18916 nsv877976 3 171134880 171172648 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512865 S 6533 1 0 LOC100128164,SAMD7,SEC62 SP55647 nsv521906 3 171144780 171149126 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694678 S 2026 1 0 LOC100128164 esv270037 3 171177666 171177777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506024,essv2505896,essv2495670,essv2498842 M 157 4 0 Samples from several populations that are part of the HapMap project. SEC62 NA18523,NA18861,NA18916,NA19138 esv2494675 3 171189147 171190105 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274761 S 1 1 0 SEC62 NA18507 nsv820125 3 171431192 171434557 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419531 S 2 0 1 PRKCI AK1 nsv821366 3 171431546 171434346 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420350 S 1 1 0 PRKCI NA10851 esv32986 3 171431792 171433887 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94473,essv97024,essv95677 M 51 3 0 PRKCI 21808,21817,21841 esv268960 3 171433679 171434020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514868,essv2515413,essv2515024,essv2516301,essv2515784,essv2515918,essv2518263 M 157 7 0 Samples from several populations that are part of the HapMap project. PRKCI NA12234,NA12249,NA12812,NA12814,NA12815,NA12873,NA19240 esv273479 3 171433679 171434020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581260 S 7 1 0 Samples from several populations that are part of the HapMap project. PRKCI NA19240 esv1665880 3 171433718 171433718 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825905 S 2 1 0 PRKCI HuRef nsv4112 3 171444029 171489476 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7050 S 9 0 1 PRKCI NA12156 nsv236549 3 171512750 171513430 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255127 M 24 "" esv23859 3 171545595 171546406 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16855 S 451 0 3 "" NA18505,NA18907,NA19190 nsv820895 3 171545595 171546406 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420351 S 1 1 0 "" NA10851 esv26300 3 171556779 171558009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15042 S 451 0 1 "" NA07045 nsv519286 3 171571142 171574596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696767 S 2026 0 1 SKIL esv2537235 3 171602045 171603679 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391150 S 1 0 1 "" NA18507 esv2202544 3 171602087 171602719 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887192 S 1 0 1 "" NA18507 esv9386 3 171602264 171602569 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31827 S 1 0 1 "" SJK esv1668515 3 171602274 171602587 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041048 S 2 0 1 "" HuRef nsv509865 3 171635570 171641570 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622035 S 4 0 1 "" NA10860 nsv877977 3 171789149 171923046 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548710 S 6533 1 0 "" MS17878 nsv4113 3 171811953 171841575 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10375 S 9 1 0 "" NA18956 nsv822340 3 171838801 171841221 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439129 S 31 0 1 "" NA18547 nsv4114 3 171926141 171959620 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3116 S 9 1 0 "" NA18555 esv2584182 3 171953739 171955040 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182986 S 1 0 1 "" NA18507 nsv877978 3 172033930 172111464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566800 S 6533 0 1 EIF5A2,RPL22L1 IS30925 esv9235 3 172048366 172048628 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31676 S 1 0 1 "" SJK esv2023797 3 172143834 172144266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565007 S 1 0 1 "" NA18507 dgv5347n71 3 172154123 172245820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv877979,nsv877980 M 6533 0 3 SLC2A2 IS35622,IS40890,IS41898 nsv236991 3 172206732 172206791 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255569 M 24 SLC2A2 esv259438 3 172214100 172214460 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394170,essv2393872,essv2393674,essv2394371 M 6 0 0 Samples from several populations that are part of the HapMap project. SLC2A2 NA12878,NA12891,NA19238,NA19240 esv259965 3 172214108 172214479 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398620,essv2400028,essv2398583,essv2399954,essv2400741,essv2398267,essv2397273,essv2401093,essv2394709,essv2395241,essv2397703,essv2397794,essv2396581,essv2400644,essv2394976,essv2398547,essv2397404,essv2399131,essv2395733,essv2400061,essv2398450,essv2395303,essv2398349,essv2394829,essv2399801,essv2398001,essv2398114,essv2398722,essv2395965,essv2400515,essv2394523 M 144 0 0 Samples from several populations that are part of the HapMap project. SLC2A2 NA06986,NA07051,NA10847,NA12156,NA12717,NA12763,NA12878,NA12891,NA18498,NA18499,NA18502,NA18505,NA18507,NA18510,NA18511,NA18516,NA18566,NA18609,NA18853,NA18861,NA18871,NA18916,NA19093,NA19114,NA19129,NA19147,NA19172,NA19190,NA19238,NA19240,NA19257 nsv509866 3 172222834 172228834 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618590 S 4 0 1 SLC2A2 CHM nsv877981 3 172358646 172467294 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548711 S 6533 1 0 TNIK MS17878 nsv822341 3 172374851 172375401 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432757 S 31 0 1 TNIK NA18972 esv8581 3 172414884 172414945 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31022 S 1 1 0 TNIK SJK nsv877982 3 172453985 172550451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596324 S 6533 0 1 TNIK IS40492 nsv4115 3 172493846 172503205 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3214 S 9 1 0 TNIK NA12878 esv1002266 3 172517387 172517448 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574707 S 3 0 1 TNIK HuRef esv1491587 3 172517455 172517517 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268340 S 2 0 1 TNIK HuRef nsv460988 3 172544580 172560525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537445 S 1557 0 1 TNIK 1780862229_A esv1491332 3 172703356 172703673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247482 S 2 0 1 "" HuRef nsv877983 3 172724456 172901903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577153 S 6533 0 1 PLD1 IS34374 nsv877984 3 172758699 172795574 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548712 S 6533 1 0 "" MS17878 nsv238001 3 172787142 172787142 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256579 M 24 "" esv1717749 3 172787222 172787222 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870018 S 2 1 0 "" HuRef esv268047 3 172801949 172802273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512446,essv2496606,essv2510694,essv2494325,essv2509772,essv2496266,essv2494977,essv2494035,essv2513307,essv2511995,essv2501802,essv2498042,essv2502220 M 157 13 0 Samples from several populations that are part of the HapMap project. PLD1 NA12043,NA18486,NA18501,NA18502,NA18508,NA18511,NA18520,NA18871,NA18907,NA19238,NA19239,NA19240,NA19257 esv273728 3 172801952 172802312 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580407 S 7 1 0 Samples from several populations that are part of the HapMap project. PLD1 NA12891 esv2550334 3 172819236 172819342 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275754 S 1 0 1 PLD1 NA18507 nsv822343 3 172936596 172937334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431984 S 31 0 1 PLD1 AK20 esv2424106 3 172950523 172951919 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356434 S 1 0 1 PLD1 NA18507 nsv877985 3 172954058 173044893 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548713 S 6533 1 0 PLD1,TMEM212 MS17878 nsv518951 3 173076034 173163207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696418 S 2026 0 1 "" esv2425200 3 173108450 173109532 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355388 S 1 1 0 "" NA18507 esv269654 3 173109047 173109401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546296,essv2521231,essv2577196,essv2535161,essv2537535,essv2528437,essv2546857,essv2571279,essv2546078,essv2574097,essv2547792 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11894,NA12043,NA12249,NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv272716 3 173109052 173109306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579294 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv2369204 3 173170877 173171284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682527 S 1 0 1 "" NA18507 nsv877986 3 173219137 173341217 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548714 S 6533 1 0 FNDC3B MS17878 nsv4116 3 173255266 173279690 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10376 S 9 1 0 FNDC3B NA18956 esv1000089 3 173331241 173333180 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564843 S 3 1 0 FNDC3B HuRef nsv514998 3 173374912 173375888 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628493 S 1414 0 0 FNDC3B esv23444 3 173375264 173375757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16624 S 451 1 0 FNDC3B NA12156 esv267385 3 173380881 173381062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505346 S 157 1 0 Samples from several populations that are part of the HapMap project. FNDC3B NA18853 esv24577 3 173393431 173394340 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20405 S 451 1 0 FNDC3B NA19108 esv2464172 3 173415028 173415117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331440 S 1 0 1 FNDC3B NA18507 nsv522798 3 173536358 173538501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698443 S 2026 0 1 FNDC3B nsv528737 3 173605161 173605215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705393 S 2026 0 1 "" nsv877987 3 173632385 173716063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589631 S 6533 0 1 GHSR,TNFSF10 IS38390 nsv829794 3 173642045 173808387 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443252 S 95 1 0 GHSR,TNFSF10 nsv877988 3 173644811 173698269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541788 S 6533 0 1 GHSR MS15491 nsv877989 3 173652798 173784627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548715 S 6533 1 0 TNFSF10 MS17878 nsv4117 3 173736271 173751673 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7895 S 9 0 1 "" NA12156 nsv520204 3 173740057 173740825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661765,nssv676472 M 2026 0 2 "" nsv523303 3 173750413 173759448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699043 S 2026 0 1 "" nsv520203 3 173756138 173756206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697279 S 2026 0 1 "" nsv521445 3 173756206 173759448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698056 S 2026 0 1 "" nsv518689 3 173758590 173759448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696140 S 2026 0 1 "" esv271446 3 173805613 173805779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516697,essv2514166,essv2515345,essv2517559,essv2516188,essv2516870,essv2513631 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA12043,NA12249,NA12878,NA12891,NA12892 esv272831 3 173805615 173805708 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580944,essv2579355,essv2579630 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv987794 3 173805643 173805643 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568758 S 3 1 0 "" HuRef nsv236932 3 173805645 173812911 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255510 M 24 "" dgv627n27 3 173822446 173880562 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460990,nsv460991 M 1557 2 0 NCEH1 HGDP01037,HGDP01056 nsv471060 3 173823301 173882649 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544588,nssv544599 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCEH1 HGDP01038,HGDP01061 nsv4118 3 173838949 173869576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv348 S 9 1 0 NCEH1 NA19240 esv274529 3 173891413 173891498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581121 S 7 1 0 Samples from several populations that are part of the HapMap project. NCEH1 NA19240 nsv518366 3 173906869 173911476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695792 S 2026 0 1 NCEH1 nsv877990 3 173911476 174045228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569869 S 6533 0 1 ECT2,NCEH1 IS31729 nsv877991 3 173962567 174045228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505555,nssv1512794 M 6533 0 2 ECT2 SP53687,SP55630 nsv829795 3 174043837 174211706 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443253 S 95 1 0 SPATA16 nsv528967 3 174065296 174074053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705666 S 2026 0 1 "" esv2556969 3 174267923 174269631 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258629 S 1 0 1 SPATA16 NA18507 nsv877992 3 174281494 174461148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553933 S 6533 0 1 SPATA16 MS20440 nsv4119 3 174283131 174328477 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7051 S 9 0 1 SPATA16 NA12156 nsv519482 3 174298434 174300300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696876 S 2026 0 1 SPATA16 nsv877993 3 174342886 174475785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575438 S 6533 0 1 "" IS33747 esv2624899 3 174420353 174421842 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347227 S 1 0 1 "" NA18507 nsv877994 3 174501008 174577399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565929 S 6533 0 1 "" IS30539 nsv822344 3 174557667 174558138 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425668 S 31 1 0 "" AK4 dgv1537e1 3 174622689 174928071 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18243,esv781 M 271 0 0 NLGN1 NA12057 nsv4120 3 174642090 174674801 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3216 S 9 1 0 NLGN1 NA12878 essv15193 3 174683875 174693746 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NLGN1 NA18504 nsv10358 3 174687205 174702070 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12343 S 31 0 1 Samples from several populations that are part of the HapMap project. NLGN1 NA18504 esv25261 3 174692112 174697139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15175 S 451 0 1 NLGN1 NA19257 esv2421940 3 174692386 174698428 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5037304,essv5059626,essv5077077,essv5062978,essv5108567,essv5101250,essv5059605,essv5103236,essv5012584,essv5035783,essv5009055,essv5128445,essv5002249,essv5161198,essv5117524,essv5050368,essv5038852,essv5068595,essv5006019,essv5155039,essv5020191,essv5094628,essv5022356,essv5089263,essv5056280,essv5049688,essv5084478,essv5112111,essv5140752,essv5145858 M 1184 0 30 NLGN1 NA18488,NA18503,NA18504,NA18871,NA18910,NA18911,NA19038,NA19098,NA19116,NA19120,NA19130,NA19184,NA19257,NA19258,NA19319,NA19373,NA19374,NA19399,NA19466,NA19704,NA19711,NA20126,NA20128,NA20292,NA20359,NA20360,NA21417,NA21434,NA21578,NA21776 essv8020 3 174692386 174755267 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NLGN1 NA18871 nsv442884 3 174692475 174698428 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NLGN1 nsv514188 3 174692752 174698368 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627623 S 1414 0 1 NLGN1 dgv628n27 3 174712468 174782360 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv460993,nsv460994,nsv460992 M 1557 3 0 NLGN1 HGDP00857,HGDP00869,HGDP00875 dgv5348n71 3 174712468 174783731 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv877995,nsv877996,nsv877998 M 6533 38 0 NLGN1 IS30609,IS31194,IS31587,IS31800,IS31812,IS31825,IS32538,IS32806,IS32819,IS33663,IS34346,IS34909,IS35161,IS35299,IS35408,IS35776,IS36219,IS36460,IS37159,IS37628,IS38246,IS38309,IS38388,IS39042,IS39503,IS40130,IS40346,IS40433,IS40491,IS40571,IS40660,IS40815,IS40851,IS41657,IS41839,IS41892,MS19267,MS21252 dgv304n21 3 174712468 174792533 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520397,nsv517544 M 2026 34 0 NLGN1 esv259627 3 174721863 174773643 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393840 S 6 0 0 Samples from several populations that are part of the HapMap project. NLGN1 NA12892 esv259834 3 174721882 174773637 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396809,essv2396269,essv2396912 M 144 0 0 Samples from several populations that are part of the HapMap project. NLGN1 NA12155,NA12716,NA12892 nsv10359 3 174721895 174774079 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12578 S 31 1 0 Samples from several populations that are part of the HapMap project. NLGN1 NA12155 nsv877997 3 174722147 174763960 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512073 S 6533 1 0 NLGN1 SP55267 nsv441850 3 174723329 174772374 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NLGN1 dgv629n27 3 174729507 174783731 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461004,nsv461016,nsv461007,nsv461013,nsv460998,nsv461011,nsv461001,nsv461014,nsv461015,nsv461005,nsv461008,nsv460996,nsv461002,nsv461010,nsv460999,nsv461009,nsv461003,nsv461000,nsv461012,nsv460997 M 1557 20 0 NLGN1 HGDP00139,HGDP00169,HGDP00210,HGDP00234,HGDP00336,HGDP00402,HGDP00428,HGDP00444,HGDP00527,HGDP00859,HGDP00864,HGDP00868,HGDP00888,HGDP00949,HGDP01009,HGDP01044,HGDP01058,HGDP01228,HGDP01362,HGDP01383 esv33113 3 174733006 174770342 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100054 S 51 1 0 NLGN1 22086 esv2329791 3 174750954 174751388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954088 S 1 0 1 NLGN1 NA18507 nsv238018 3 174751114 174751171 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256596 M 24 NLGN1 nsv818192 3 174754378 174771975 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416229,nssv1416145 M 112 2 0 NLGN1 NA12057,NA12892 nsv829796 3 174785038 174970241 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443254 S 95 1 0 NLGN1 dgv5349n71 3 174799486 174857656 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878000,nsv877999 M 6533 0 2 NLGN1 IS37428,IS41877 nsv471071 3 174966128 175004791 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544610 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NLGN1 HGDP01061 esv989077 3 174972123 174972123 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582407 S 3 1 0 NLGN1 HuRef nsv236399 3 174981641 174987561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254977 M 24 NLGN1 nsv878001 3 175040531 175164600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592540 S 6533 0 1 NLGN1 IS39243 dgv305n21 3 175057211 175453497 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518882,nsv526128 M 2026 2 0 NLGN1 nsv4122 3 175146630 175190841 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2430 S 9 0 1 NLGN1 NA18555 nsv507137 3 175243853 175249853 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621731 S 4 1 0 NLGN1 NA10860 nsv520908 3 175284445 176016628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697682 S 2026 0 1 NLGN1 esv1219198 3 175286767 175286767 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972535 S 2 1 0 NLGN1 HuRef nsv4123 3 175334381 175368252 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4697 S 9 1 0 NLGN1 NA19129 nsv461018 3 175336478 175375732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537473 S 1557 0 1 NLGN1 NINDS_142 esv1345007 3 175412160 175412160 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984122 S 2 1 0 NLGN1 HuRef esv1173402 3 175412342 175412342 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640309 S 2 1 0 NLGN1 HuRef nsv878002 3 175441056 175482848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548716 S 6533 1 0 NLGN1 MS17878 nsv878003 3 175473282 175555965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601211 S 6533 0 1 NLGN1 IS41984 nsv829797 3 175486823 175658526 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443255 S 95 1 0 "" nsv518940 3 175508557 175544777 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696407 S 2026 0 1 "" nsv507138 3 175525428 175531428 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617619 S 4 1 0 "" CHM esv2556778 3 175559123 175563895 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194402 S 1 0 1 "" NA18507 esv2260269 3 175559584 175563518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881666 S 1 0 1 "" NA18507 esv24947 3 175559790 175563335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17312 S 451 0 3 "" NA18523,NA18909,NA19147 esv2434561 3 175560289 175564798 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314468 S 1 0 1 "" NA18507 nsv515787 3 175560325 175560643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678195,nssv664782 M 2026 0 2 "" nsv4124 3 175661776 175678802 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7896 S 9 0 1 "" NA12156 esv26072 3 175684645 175685395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14238 S 451 0 2 "" NA11995,NA12749 nsv820318 3 175684645 175685395 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420352 S 1 0 1 "" NA10851 esv2641836 3 175701179 175702595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257138 S 1 0 1 "" NA18507 esv1946112 3 175701380 175702056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754573 S 1 0 1 "" NA18507 esv271980 3 175708115 175708200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518678,essv2515609 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12815 esv274078 3 175733568 175733906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581332,essv2581156 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv270130 3 175733573 175733907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526186,essv2522727,essv2545527,essv2547279,essv2565529,essv2537707,essv2524575,essv2570025,essv2559232,essv2542083,essv2522335,essv2577156,essv2574426 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931,NA12003,NA12717,NA12812,NA12878,NA18555,NA18593,NA18638,NA18856,NA18960,NA18970,NA19240 nsv878004 3 175770298 175839182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587453 S 6533 0 1 "" IS38055 nsv4125 3 175782374 175816090 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7897 S 9 0 1 "" NA12156 nsv878005 3 175799609 175865350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569066 S 6533 0 1 "" IS31419 nsv507139 3 175818170 175824170 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622876 S 4 1 0 "" NA18994 nsv878006 3 175850402 175902856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523896 S 6533 1 0 "" SP54268 esv269820 3 175893413 175893742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558012,essv2565826,essv2540816,essv2571647,essv2546439,essv2526187,essv2542354,essv2536475,essv2568184,essv2523199,essv2531846,essv2577494,essv2570591,essv2548538,essv2521683,essv2576606,essv2525445,essv2553997,essv2552011,essv2547210,essv2529233,essv2558441,essv2564486,essv2553757,essv2559747,essv2565511,essv2520088,essv2530611,essv2562024,essv2537272,essv2528614,essv2547099,essv2557121,essv2552348,essv2532243,essv2578761,essv2569643,essv2523701,essv2538251,essv2542760,essv2565044,essv2534854,essv2539573,essv2549207,essv2519877,essv2559810,essv2531111,essv2532839,essv2567835,essv2567295,essv2570156,essv2553408,essv2535554,essv2559061,essv2542079,essv2550902,essv2578172,essv2555411,essv2533677,essv2567233,essv2566676,essv2530169,essv2574041,essv2527613,essv2555898,essv2534419,essv2573432,essv2576982,essv2526816,essv2529453,essv2530224,essv2572780,essv2574291,essv2537782,essv2548637,essv2533121,essv2554404,essv2547878,essv2525033 M 157 79 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11831,NA11840,NA11881,NA11918,NA11919,NA11920,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12287,NA12489,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12812,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18510,NA18520,NA18537,NA18547,NA18550,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18582,NA18593,NA18605,NA18608,NA18638,NA18856,NA18858,NA18940,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18964,NA18970,NA19005,NA19093,NA19141,NA19143,NA19240 esv272544 3 175893413 175893742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582075,essv2582366,essv2582862,essv2583762 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19240 esv2570066 3 175898718 175900161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162766 S 1 0 1 "" NA18507 esv1924707 3 175898906 175899565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4896458 S 1 0 1 "" NA18507 nsv528019 3 175900606 175909403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704548 S 2026 0 1 "" nsv507140 3 175958981 175964981 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621732,nssv617620 M 4 2 0 "" CHM,NA10860 esv1000524 3 175962808 175964363 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563691 S 3 1 0 "" HuRef nsv822345 3 175969900 175970381 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430501 S 31 1 0 "" AK16 nsv524082 3 175989466 176002550 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699951 S 2026 1 0 "" nsv878007 3 175989466 176045716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594171 S 6533 0 1 "" IS39718 nsv524763 3 175993708 175999339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700754 S 2026 0 1 "" esv992451 3 176015835 176021142 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565770 S 3 0 1 "" HuRef nsv878008 3 176019138 176129297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533196 S 6533 0 1 NAALADL2 MS11054 nsv822346 3 176069250 176070638 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437367 S 31 0 1 NAALADL2 NA18949 nsv878009 3 176069407 176129297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504892 S 6533 0 1 NAALADL2 SP52858 nsv878010 3 176087908 176199877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537817 S 6533 0 1 NAALADL2 MS13379 esv2077484 3 176098120 176098833 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612801 S 1 0 1 NAALADL2 NA18507 nsv829798 3 176115632 176291566 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443257,nssv1443256 M 95 2 0 NAALADL2 esv2502889 3 176194547 176196207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373831 S 1 0 1 NAALADL2 NA18507 nsv829799 3 176200817 176379992 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443260,nssv1443259,nssv1443258,nssv1443261 M 95 4 0 NAALADL2 nsv236658 3 176213487 176213748 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255236 M 24 NAALADL2 nsv878011 3 176227530 176321550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548717 S 6533 1 0 NAALADL2 MS17878 nsv878012 3 176250048 176658330 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558850 S 6533 1 0 MIR4789,NAALADL2 MS23579 esv267527 3 176250584 176250984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511042,essv2511216,essv2505494,essv2504129,essv2509008,essv2505742,essv2496025,essv2502691 M 157 8 0 Samples from several populations that are part of the HapMap project. NAALADL2 NA11831,NA11931,NA12154,NA18505,NA18522,NA18861,NA18961,NA18965 esv268896 3 176259556 176259951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508133,essv2499123,essv2493839 M 157 3 0 Samples from several populations that are part of the HapMap project. NAALADL2 NA18579,NA19114,NA19210 nsv471082 3 176307138 176351157 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544621 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NAALADL2 HGDP00699 esv25430 3 176330476 176341355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11344 S 451 0 1 NAALADL2 NA12776 nsv461021 3 176343729 176555296 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537474 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NAALADL2 HGDP00112 nsv436927 3 176426292 176432379 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466808 S 60 0 1 Samples from several populations that are part of the HapMap project. NAALADL2 NA10830 nsv878013 3 176440878 176467800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548718 S 6533 1 0 NAALADL2 MS17878 nsv829800 3 176453113 176625365 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443264,nssv1443263 M 95 1 1 MIR4789,NAALADL2 nsv525074 3 176487060 176487614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701128 S 2026 0 1 NAALADL2 esv1002088 3 176496574 176496574 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577674 S 3 1 0 NAALADL2 HuRef nsv237834 3 176496576 176496576 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256412 M 24 NAALADL2 nsv510887 3 176535699 176602594 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622365,nssv621568 M 4 0 0 MIR4789,NAALADL2 NA10860,NA15510 esv275442 3 176551060 176552882 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585828,essv2585190 M 1250 1 1 NAALADL2 nsv437349 3 176552411 176577051 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467230 S 60 0 1 Samples from several populations that are part of the HapMap project. MIR4789,NAALADL2 NA19173 nsv878014 3 176552882 176569238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532654 S 6533 0 1 NAALADL2 MS10802 nsv471093 3 176552882 176585032 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544643,nssv544632 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4789,NAALADL2 HGDP01217,HGDP01223 nsv878015 3 176557803 176592039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578269 S 6533 1 0 MIR4789,NAALADL2 IS34748 nsv10360 3 176560242 176569014 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29039,nssv28748,nssv29052,nssv12608,nssv29204,nssv12373,nssv12231,nssv29182,nssv11748,nssv12029 M 31 0 10 Samples from several populations that are part of the HapMap project. NAALADL2 NA07029,NA12155,NA18504,NA18537,NA18563,NA18564,NA18572,NA18860,NA18980,NA19173 esv25293 3 176563149 176566309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13178 S 451 0 8 NAALADL2 NA07037,NA11894,NA12776,NA15510,NA18508,NA18523,NA18858,NA18909 dgv841n67 3 176563428 176566434 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822348,nsv822347 M 31 0 11 NAALADL2 AK10,AK16,AK2,AK20,AK4,AK6,NA18537,NA18564,NA18592,NA18949,NA18973 nsv437898 3 176564661 176566093 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467874,nssv467876 M 269 0 2 Samples from several populations that are part of the HapMap project. NAALADL2 NA18622,NA18974 nsv526163 3 176569238 177225442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702422 S 2026 0 1 MIR4789,NAALADL2 nsv4126 3 176572861 176595171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3217 S 9 1 0 NAALADL2 NA12878 esv32881 3 176573116 177202559 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92558 S 51 0 1 NAALADL2 22233 nsv461022 3 176616018 176659946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537475 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NAALADL2 HGDP00740 nsv878016 3 176622536 176677561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591983 S 6533 0 1 NAALADL2 IS39119 nsv878017 3 176622536 176707153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565930 S 6533 0 1 NAALADL2 IS30539 nsv818193 3 176652423 176658330 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417211 S 112 1 0 NAALADL2 NA18558 nsv829801 3 176653293 176817050 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443265 S 95 1 0 NAALADL2 nsv461023 3 176654109 176670127 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537476 S 1557 0 1 NAALADL2 1780862109_A esv21640 3 176663223 176663776 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15165 S 451 0 1 NAALADL2 NA19108 nsv878018 3 176707153 176853293 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596325 S 6533 0 1 NAALADL2 IS40492 esv2634942 3 176716158 176717629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310489 S 1 0 1 NAALADL2 NA18507 nsv878019 3 176779119 176883911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552822 S 6533 0 1 NAALADL2 MS19634 esv34059 3 176807191 176846690 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 NAALADL2 nsv509867 3 176807647 176813647 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623925 S 4 0 1 NAALADL2 NA18994 nsv878020 3 176816996 176892871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539527 S 6533 0 1 NAALADL2 MS14359 nsv507141 3 176822601 176828601 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620232 S 4 1 0 NAALADL2 NA15510 esv2231955 3 176823584 176823987 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731064 S 1 0 1 NAALADL2 NA18507 nsv523336 3 176883911 176897869 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699082 S 2026 0 1 NAALADL2 nsv878021 3 176980160 177013074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600363 S 6533 0 1 NAALADL2 IS41874 nsv878022 3 176980160 177037073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551727 S 6533 0 1 NAALADL2 MS18978 esv2651072 3 176992354 176993603 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181752 S 1 0 1 NAALADL2 NA18507 nsv878023 3 176998117 177037877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523438 S 6533 0 1 NAALADL2 SP54030 nsv516781 3 177056450 177069691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670805,nssv687727 M 2026 0 2 "" esv2352435 3 177143332 177143772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880350 S 1 0 1 "" NA18507 esv267841 3 177156606 177156936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540862,essv2546570,essv2571003,essv2556556,essv2545536,essv2521834,essv2550645,essv2553974,essv2520437,essv2577867,essv2576195,essv2520233,essv2555156,essv2561943,essv2546781,essv2540039,essv2578512,essv2537015,essv2523508,essv2541450,essv2542749,essv2524378,essv2564919,essv2539767,essv2519863,essv2559994,essv2522057,essv2532833,essv2567834,essv2528831,essv2567344,essv2541653,essv2569895,essv2563818,essv2559214,essv2566840,essv2533938,essv2573881,essv2555804,essv2573506,essv2577054,essv2526398,essv2560787,essv2571504,essv2574147,essv2551493,essv2536138,essv2538021,essv2549015,essv2554565 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA11831,NA11881,NA11993,NA11994,NA12003,NA12144,NA12155,NA12287,NA12716,NA12761,NA12814,NA12815,NA12872,NA12874,NA12892,NA18489,NA18510,NA18517,NA18537,NA18545,NA18550,NA18555,NA18558,NA18563,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18638,NA18853,NA18916,NA18951,NA18956,NA18964,NA18970,NA19114,NA19116,NA19238,NA19240,NA19257 esv272900 3 177156607 177156935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583145,essv2584332,essv2583377 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 nsv4127 3 177162058 177205813 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4698,nssv3117 M 9 2 0 "" NA18555,NA19129 esv267603 3 177244769 177245121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494199,essv2504044,essv2509657,essv2496478,essv2494879,essv2505349,essv2510903 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18508,NA18510,NA18520,NA18853,NA19116 dgv1538e1 3 177275744 177516293 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10424,esv22,essv10797 M 271 0 0 "" NA18523,NA19222 esv269049 3 177296602 177296713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510306,essv2495850,essv2513493,essv2506606 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12414,NA12489,NA18907,NA19108 dgv5350n71 3 177341698 177417307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878025,nsv878024,nsv878026 M 6533 0 3 "" IS31205,IS31729,IS41895 nsv878027 3 177353491 177560866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567934 S 6533 0 1 "" IS31179 dgv630n27 3 177366869 177408110 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461025,nsv461024 M 1557 0 2 "" HGDP00517,HGDP01254 nsv516429 3 177366869 177440553 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659145,nssv677408,nssv684508,nssv673110,nssv656616,nssv667688,nssv676612,nssv671829,nssv681381,nssv661568,nssv663414,nssv658258,nssv687115,nssv660692,nssv658741,nssv672680,nssv672966,nssv660018,nssv678124,nssv681784,nssv681309,nssv652909,nssv666157,nssv673363,nssv659615,nssv660357,nssv689612,nssv691557,nssv669136,nssv652694,nssv686467,nssv661073,nssv692191,nssv667773,nssv679362,nssv676962,nssv671130,nssv671093,nssv692520,nssv687009,nssv654135,nssv690632,nssv661303,nssv669037,nssv675733,nssv694019,nssv691795,nssv691459,nssv655287,nssv678399,nssv656309,nssv681045,nssv668435,nssv660290,nssv673128,nssv685299,nssv672533,nssv687669,nssv676810,nssv679025,nssv663265 M 2026 13 48 "" esv33171 3 177369952 177393926 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101412,essv96526 M 51 0 2 "" 21805,22261 esv23403 3 177370622 177428646 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11140,esv18403 M 451 1 1 "" NA06985,NA18523 esv2421649 3 177370753 177397828 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070531,essv5124013,essv5031789,essv5041827,essv5097822,essv5047164,essv5085900,essv5027416,essv5146078,essv5003543,essv5018058,essv5149249,essv5117704,essv5139616,essv5099369,essv5074935 M 1184 0 16 "" NA06985,NA10845,NA10865,NA11843,NA11892,NA11930,NA12344,NA12348,NA12832,NA12843,NA19682,NA19777,NA19778,NA20769,NA20787,NA21582 nsv818194 3 177371924 177390036 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416672 S 112 0 1 "" NA06985 nsv437899 3 177379272 177412368 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467877 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18523 nsv878028 3 177379272 177436880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581365 S 6533 0 1 "" IS35572 esv2639503 3 177380319 177383505 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202775 S 1 0 1 "" NA18507 esv1324684 3 177381866 177381964 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033444 S 2 0 1 "" HuRef esv1249231 3 177382330 177382330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647136 S 2 1 0 "" HuRef esv1468868 3 177382357 177382357 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730768 S 2 1 0 "" HuRef esv1170573 3 177382469 177382524 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315237 S 2 0 1 "" HuRef dgv5351n71 3 177385694 177510473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878030,nsv878029 M 6533 0 2 "" IS31581,MS16477 esv8150 3 177401577 177402041 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30591 S 1 0 0 "" SJK nsv527268 3 177403578 177448044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703676 S 2026 0 1 "" nsv508966 3 177419956 177444980 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623395 S 4 1 0 "" NA18994 nsv4128 3 177421243 177454029 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2431,nssv350 M 9 2 0 "" NA18555,NA19240 nsv829802 3 177441005 177612218 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443266 S 95 0 1 "" nsv4129 3 177454448 177489395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv351 S 9 1 0 "" NA19240 nsv10362 3 177459592 177475102 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13020 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv471105 3 177534705 177759264 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544654 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00988 esv27907 3 177558939 177560078 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16793,esv14558 M 451 0 4 "" NA18505,NA18508,NA18909,NA19257 esv2038711 3 177562025 177562456 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901054 S 1 0 1 "" NA18507 nsv512818 3 177562101 177562334 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625453 S 1 1 0 "" 1 esv1711742 3 177574027 177574027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163697 S 2 1 0 "" HuRef nsv509868 3 177620177 177626177 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622036,nssv618591,nssv623926,nssv621219 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2424613 3 177625124 177626210 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311186 S 1 1 0 "" NA18507 esv269475 3 177625690 177626029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514547,essv2516666,essv2514176,essv2518670,essv2514765,essv2514988,essv2516308,essv2515703,essv2518128,essv2514323,essv2517712,essv2517278,essv2519010,essv2518206 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12043,NA12045,NA12234,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA18970,NA19141,NA19240 esv272474 3 177625690 177626029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581442,essv2581302 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1585813 3 177625728 177625728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786292 S 2 1 0 "" HuRef nsv518238 3 177671680 177695202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695670 S 2026 0 1 "" esv1034783 3 177828266 177828266 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689918 S 2 1 0 "" HuRef esv992926 3 177988756 177988877 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584409 S 3 0 1 "" HuRef esv1416114 3 177988756 177988878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595488 S 2 0 1 "" HuRef nsv236526 3 177988791 177988912 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255104 M 24 "" esv2751983 3 177989883 178166128 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988838,essv6984705,essv6984706,essv6987655 M 771 1 0 "" SPC_167 esv21912 3 177996297 177998540 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11831 S 451 0 1 "" NA19190 nsv878031 3 177999489 178118860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548719 S 6533 1 0 "" MS17878 nsv236867 3 178058374 178058374 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255445 M 24 "" esv1145657 3 178058375 178058375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977764 S 2 1 0 "" HuRef nsv878032 3 178060673 178157980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569192,nssv1570221 M 6533 2 0 "" IS31543,IS31835 nsv878033 3 178130243 178290008 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553340 S 6533 0 1 TBL1XR1 MS19941 esv1214083 3 178164871 178164871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182031 S 2 1 0 "" HuRef nsv441851 3 178176283 178191496 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514999 3 178176384 178190624 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628494 S 1414 0 0 "" dgv1539e1 3 178177226 178198612 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15967,essv7875,esv1385,essv13372 M 271 0 0 "" NA19140,NA19142,NA19159 nsv878034 3 178198612 178290008 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556041 S 6533 0 1 TBL1XR1 MS21771 nsv518453 3 178203474 178393288 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695890 S 2026 1 0 TBL1XR1 nsv829803 3 178249069 178443505 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443267,nssv1443268 M 95 2 0 TBL1XR1 esv29448 3 178389394 178391596 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18081 S 451 0 1 TBL1XR1 NA19225 esv272577 3 178395803 178395990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580142,essv2580343,essv2579987,essv2580617,essv2579048,essv2579743 M 7 6 0 Samples from several populations that are part of the HapMap project. TBL1XR1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv822349 3 178425533 178426560 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425671 S 31 1 0 "" AK4 esv1419797 3 178428715 178428945 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133810 S 2 0 1 "" HuRef nsv508967 3 178466204 178511582 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623396 S 4 1 0 "" NA18994 esv1214741 3 178657914 178657914 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976131 S 2 1 0 "" HuRef nsv4130 3 178710056 178742725 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2432 S 9 1 0 "" NA18555 nsv10363 3 178775698 178780663 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11673,nssv29013 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863 esv24716 3 178777184 178780230 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12120 S 451 0 4 "" NA12239,NA12287,NA12489,NA12878 nsv514189 3 178777184 178866272 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627624 S 1414 0 1 "" esv2425262 3 178845169 178846586 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393782 S 1 0 1 "" NA18507 esv3788 3 178845646 178846302 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26229 S 1 0 1 Single Asian sample YH "" YH esv25454 3 178845675 178846363 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19965 S 451 2 0 "" NA12414,NA18517 nsv820828 3 178845675 178846363 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420353 S 1 0 1 "" NA10851 esv995831 3 178845688 178845992 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577868 S 3 0 1 "" HuRef esv1732902 3 178845725 178846030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645470 S 2 0 1 "" HuRef nsv4131 3 178849243 178881995 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv352 S 9 0 1 "" NA19240 nsv10364 3 178859724 178872763 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13050 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv499023 3 178864009 178868112 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585884 S 9 0 1 "" esv1637392 3 178864947 178864947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648402 S 2 1 0 "" HuRef esv27988 3 178865818 178866301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18267 S 451 0 2 "" NA11995,NA18508 esv33749 3 178866164 178872551 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96944,essv93232,essv99621 M 51 0 3 "" 21817,22170,22217 esv2590986 3 178878588 178880077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240240 S 1 0 1 "" NA18507 nsv878035 3 178960661 179031323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568008 S 6533 1 0 "" IS31183 nsv523331 3 179018442 179036898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699077 S 2026 1 0 "" nsv4133 3 179031673 179066340 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3118 S 9 1 0 "" NA18555 nsv829805 3 179144807 179287697 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443269 S 95 1 0 "" nsv4134 3 179231611 179244210 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9633 S 9 1 0 "" NA18507 esv24466 3 179236324 179239633 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10149 S 451 0 1 "" NA18508 esv1011345 3 179266822 179272605 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565551 S 3 0 1 "" HuRef nsv4135 3 179325251 179369999 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7898 S 9 0 1 "" NA12156 esv2467986 3 179341165 179342548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278783 S 1 0 1 "" NA18507 esv2029031 3 179341493 179341836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571982 S 1 0 1 "" NA18507 esv2119176 3 179363651 179364086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687009 S 1 0 1 "" NA18507 nsv237179 3 179379192 179379249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255757 M 24 "" nsv878036 3 179415628 179605180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556423 S 6533 0 1 "" MS22008 nsv4136 3 179586719 179631973 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7899 S 9 0 1 "" NA12156 esv2654657 3 179593323 179594431 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259378 S 1 1 0 "" NA18507 esv273497 3 179593705 179594051 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580086,essv2580418,essv2579916 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271318 3 179593713 179594042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557990,essv2565799,essv2540907,essv2571658,essv2521271,essv2526254,essv2536459,essv2543979,essv2571055,essv2568246,essv2545544,essv2577352,essv2548619,essv2521633,essv2535042,essv2554185,essv2552196,essv2558298,essv2564588,essv2565301,essv2564213,essv2554945,essv2530666,essv2528228,essv2546967,essv2540174,essv2557533,essv2557081,essv2552720,essv2532068,essv2550231,essv2527071,essv2563030,essv2523873,essv2542608,essv2549260,essv2570289,essv2563698,essv2566723,essv2543572,essv2556156,essv2527809,essv2562235,essv2534068,essv2578392,essv2555681,essv2566657,essv2529996,essv2522538,essv2529775,essv2575348,essv2526340,essv2574793,essv2568510,essv2549681,essv2571448,essv2574289,essv2535953,essv2538067,essv2549079,essv2533301,essv2525096 M 157 62 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10851,NA11829,NA11831,NA11840,NA11894,NA11918,NA11920,NA11992,NA11993,NA11995,NA12003,NA12043,NA12045,NA12144,NA12249,NA12287,NA12489,NA12750,NA12751,NA12812,NA12828,NA12872,NA12873,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18505,NA18511,NA18522,NA18532,NA18537,NA18550,NA18564,NA18593,NA18603,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18945,NA18948,NA18949,NA18960,NA19093,NA19102,NA19114,NA19138,NA19147,NA19225,NA19238,NA19240 nsv513734 3 179599058 179639524 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626986 S 1 1 0 "" 1 nsv521950 3 179602063 179610518 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694719 S 2026 1 0 "" nsv525869 3 179602063 179637209 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702069 S 2026 1 0 "" nsv4137 3 179621231 179638399 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10377 S 9 1 0 "" NA18956 nsv524447 3 179740283 179838963 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700380 S 2026 1 0 KCNMB2 esv5751 3 179791823 179791873 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28192 S 1 1 0 KCNMB2 SJK nsv515673 3 179793530 179798246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679439,nssv664336,nssv659992 M 2026 0 3 KCNMB2 esv1239393 3 179959207 179959207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271981 S 2 1 0 KCNMB2 HuRef esv1312525 3 179959254 179959355 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266782 S 2 0 1 KCNMB2 HuRef esv1105229 3 179960181 179960239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955495 S 2 0 1 KCNMB2 HuRef nsv237839 3 179960212 179960363 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256417 M 24 KCNMB2 esv1084850 3 179960418 179960544 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061467 S 2 0 1 KCNMB2 HuRef nsv513094 3 180032071 180034106 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626582 S 1 0 1 KCNMB2 1 esv2536068 3 180032375 180034473 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384403 S 1 0 1 KCNMB2 NA18507 nsv820302 3 180032507 180033632 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419179 S 2 1 0 KCNMB2 AK1 esv2299103 3 180032629 180033753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747455 S 1 0 1 KCNMB2 NA18507 esv5860 3 180032819 180033564 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28301 S 1 0 1 KCNMB2 SJK nsv236354 3 180032825 180033565 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254932 M 24 KCNMB2 esv1066766 3 180032827 180033568 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938516 S 2 0 1 KCNMB2 HuRef nsv820700 3 180032900 180033574 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420354 S 1 0 1 KCNMB2 NA10851 esv24242 3 180032900 180050862 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18114,esv18827,esv17489 M 451 18 0 KCNMB2 NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA19108 nsv822350 3 180033083 180033522 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425672,nssv1425130,nssv1437369,nssv1432758,nssv1435795,nssv1421623,nssv1424138,nssv1423316,nssv1427415,nssv1429723,nssv1438743,nssv1436515,nssv1440990,nssv1428193,nssv1431236,nssv1439140,nssv1430503,nssv1434346,nssv1424113,nssv1424901,nssv1435005,nssv1438083,nssv1439606,nssv1440279,nssv1433573,nssv1428970,nssv1425632,nssv1426567,nssv1422524 M 31 29 0 KCNMB2 AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 dgv40n50 3 180050200 180051857 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513095,nsv511228 M 1 0 1 "" 1 nsv821141 3 180050314 180050862 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420355 S 1 0 1 "" NA10851 esv1008439 3 180050346 180051036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570689 S 3 0 1 "" HuRef esv1133273 3 180050347 180051038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189973 S 2 0 1 "" HuRef nsv461026 3 180144508 180369303 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537479 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIK3CA,ZMAT3 HGDP00100 esv2143266 3 180293941 180294505 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664976 S 1 0 1 "" NA18507 nsv878037 3 180308604 180354600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508172 S 6533 0 1 PIK3CA SP54725 nsv822351 3 180361211 180366498 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423317,nssv1431237 M 31 0 2 PIK3CA AK18,NA18999 esv275373 3 180369912 180375030 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585146,essv2585235 M 1250 1 1 PIK3CA nsv524471 3 180380368 180385958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700409 S 2026 0 1 PIK3CA esv1007496 3 180401931 180402892 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586993 S 3 0 1 PIK3CA HuRef dgv842n67 3 180404244 180404975 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822356,nsv822357,nsv822355,nsv822354,nsv822352,nsv822358 M 31 10 0 PIK3CA AK20,AK6,NA18526,NA18537,NA18547,NA18552,NA18566,NA18942,NA18947,NA18968 nsv819800 3 180404265 180405029 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419080 S 2 1 0 PIK3CA AK1 dgv5352n71 3 180407561 180451262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878038,nsv878039 M 6533 0 2 KCNMB3,PIK3CA SP51086,SP57379 nsv829806 3 180435057 180637067 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443270 S 95 1 0 GNB4,KCNMB3,MFN1,PIK3CA,ZNF639 nsv471116 3 180451328 180734957 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544665 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GNB4,KCNMB3,MFN1,ZNF639 HGDP00468 nsv4138 3 180536127 180570678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3120 S 9 1 0 MFN1 NA18555 nsv4139 3 180585278 180618485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2433 S 9 1 0 GNB4,MFN1 NA18555 nsv437900 3 180770973 180772787 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467878,nssv467879 M 269 0 2 Samples from several populations that are part of the HapMap project. ACTL6A NA10851,NA12057 nsv4140 3 180866655 180912398 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7053 S 9 0 1 USP13 NA12156 nsv522327 3 180900670 180903360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695108 S 2026 0 1 USP13 dgv78n68 3 181010261 181237015 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv829807,nsv829808 M 95 3 0 PEX5L esv1977016 3 181101556 181101931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934741 S 1 0 1 PEX5L NA18507 esv1009120 3 181101674 181101725 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580074 S 3 0 1 PEX5L HuRef esv1408102 3 181101760 181101812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744628 S 2 0 1 PEX5L HuRef nsv236140 3 181101761 181101812 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254718 M 24 PEX5L dgv20e24 3 181136115 181137524 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750492,esv2750497,esv2750603,esv2750657,esv2750694,esv2750709,esv2750727 M 51 0 7 PEX5L 21618,21634,21656,21805,21841,21944,22352 esv2554672 3 181136547 181138049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314051 S 1 0 1 PEX5L NA18507 esv2395412 3 181136839 181137663 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673159 S 1 0 1 PEX5L NA18507 esv1008971 3 181137034 181137498 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571185 S 3 0 1 PEX5L HuRef esv8438 3 181137037 181137503 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30879 S 1 0 1 PEX5L SJK esv259510 3 181162392 181162649 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394223 S 6 0 0 Samples from several populations that are part of the HapMap project. PEX5L NA12878 esv33250 3 181171093 181171479 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95737 S 51 0 1 PEX5L 21841 esv33044 3 181171479 181174635 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96943,essv95584,essv97121,essv100021,essv93289 M 51 0 5 PEX5L 21817,21841,22075,22086,22170 esv275254 3 181269420 181284736 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585585,essv2586057 M 1250 1 1 "" nsv4141 3 181272584 181305672 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7900 S 9 1 0 "" NA12156 nsv878040 3 181306581 181610982 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548720 S 6533 1 0 "" MS17878 esv275096 3 181313775 181315835 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585791,essv2585583 M 1250 1 1 "" nsv878041 3 181466551 181580549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549260 S 6533 0 1 "" MS18159 nsv461027 3 181550286 181554680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537480 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00206 nsv822359 3 181550721 181552571 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434347 S 31 1 0 "" NA18570 esv2528959 3 181574139 181576514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243488 S 1 0 1 "" NA18507 esv274386 3 181654061 181654318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580193,essv2579863,essv2580777 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv271961 3 181654062 181654389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512497,essv2496799,essv2493786,essv2501040,essv2504815,essv2506868,essv2506644,essv2510934,essv2499685,essv2511996 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18517,NA18856,NA19099,NA19102,NA19108,NA19116,NA19225,NA19238 nsv516634 3 181654283 181667308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690800,nssv671719,nssv669754,nssv669975,nssv685300 M 2026 0 5 "" esv268452 3 181673073 181673409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540070,essv2520732,essv2556959,essv2552330,essv2537096,essv2539058,essv2542034,essv2550887,essv2556272,essv2562471,essv2529499,essv2575712,essv2574987,essv2560659,essv2572703,essv2549937,essv2571420,essv2545869,essv2574280 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18501,NA18502,NA18517,NA18519,NA18856,NA18858,NA18871,NA18909,NA19093,NA19099,NA19102,NA19116,NA19143,NA19225,NA19238,NA19239,NA19240 esv272244 3 181673075 181673415 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584131,essv2584752,essv2583373 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271034 3 181714992 181715393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502031 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19257 nsv509869 3 181818179 181824179 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622037,nssv621220,nssv618592 M 4 0 3 CCDC39 CHM,NA10860,NA15510 esv2484281 3 181868269 181889221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393408 S 1 0 1 CCDC39 NA18507 esv2244500 3 181869489 181889386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789279 S 1 0 1 CCDC39 NA18507 esv271766 3 181936999 181937251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510198,essv2496702,essv2505144,essv2499462,essv2495348,essv2504247,essv2506221,essv2505828,essv2509220,essv2495600,essv2503454,essv2502366,essv2512371,essv2493109,essv2500551,essv2502620,essv2500737,essv2504778,essv2506496,essv2499732 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA11995,NA12044,NA12287,NA18505,NA18523,NA18861,NA18909,NA18916,NA18947,NA18948,NA18949,NA18951,NA18956,NA18965,NA18973,NA19099,NA19108,NA19225 nsv237915 3 181958359 181958460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256493 M 24 "" esv2224318 3 182060496 182060839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916803 S 1 0 1 "" NA18507 nsv511225 3 182316235 182335405 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624400 S 1 1 0 "" 1 dgv1540e1 3 182334290 182489336 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15204,essv7568,essv4585,esv418,essv17345 M 271 0 0 "" NA18524,NA18545,NA18856,NA19094 nsv428427 3 182334290 182489336 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454296,nssv454297 M 62 2 0 "" HGDP00463,NA19096 nsv236619 3 182334569 182334630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255197 M 24 "" esv21911 3 182334636 182335321 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10907 S 451 0 3 "" NA12414,NA12828,NA18502 nsv820662 3 182334636 182335321 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420356 S 1 0 1 "" NA10851 esv1197897 3 182334778 182334778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862888 S 2 1 0 "" HuRef esv1445327 3 182335047 182335107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054211 S 2 0 1 "" HuRef nsv437350 3 182362572 182373650 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467231 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv829809 3 182374968 182548903 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443275 S 95 0 1 "" esv2084028 3 182444406 182445110 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811406 S 1 0 1 "" NA18507 esv2550869 3 182444583 182444910 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284992 S 1 0 1 "" NA18507 nsv236637 3 182444597 182444924 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255215 M 24 "" esv2245575 3 182488727 182489187 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661785 S 1 0 1 "" NA18507 esv997898 3 182488922 182488992 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578817 S 3 0 1 "" HuRef esv1383539 3 182488952 182489023 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3953461 S 2 0 1 "" HuRef nsv829810 3 182601630 182774085 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443277,nssv1443276 M 95 1 1 "" nsv522902 3 182730491 182733412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698560 S 2026 0 1 "" nsv509870 3 182771507 182777507 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618593 S 4 0 1 "" CHM nsv509871 3 182775597 182781597 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623928 S 4 0 1 "" NA18994 nsv878042 3 182940295 183018275 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548721 S 6533 1 0 SOX2-OT MS17878 nsv237506 3 182943404 182943489 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256084 M 24 "" esv2331390 3 182980087 182980711 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000194 S 1 0 1 "" NA18507 esv2800 3 182980247 182980602 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25241 S 1 0 1 Single Asian sample YH "" YH esv8539 3 182980274 182981109 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30980 S 1 0 0 "" SJK nsv878043 3 183007211 183085439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599369 S 6533 0 1 "" IS41634 esv267948 3 183013811 183014007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499424,essv2495343,essv2504986,essv2496151,essv2498543,essv2505752,essv2495657,essv2497877,essv2502458,essv2512330,essv2505670,essv2506554,essv2499100,essv2509547,essv2499648 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA12287,NA12828,NA18511,NA18858,NA18861,NA18916,NA18945,NA18948,NA18949,NA19005,NA19108,NA19114,NA19129,NA19225 nsv507142 3 183058699 183064699 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621733,nssv617621 M 4 2 0 "" CHM,NA10860 nsv878044 3 183066017 183160603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548722 S 6533 1 0 "" MS17878 nsv829811 3 183341588 183529396 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443278 S 95 1 0 "" esv1381296 3 183353745 183353745 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655619 S 2 1 0 "" HuRef nsv461030 3 183391631 183446083 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537482 S 1557 0 1 "" 1780854537_A nsv878045 3 183400318 183660305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588463 S 6533 0 1 FLJ46066 IS38207 nsv878046 3 183446297 183660305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548723 S 6533 1 0 FLJ46066 MS17878 esv272300 3 183477519 183477825 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580430,essv2580016,essv2580868,essv2579492 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 esv268813 3 183477523 183477857 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510755,essv2496523,essv2506132,essv2493991,essv2513390,essv2509436,essv2493508,essv2497656,essv2493880,essv2511949 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18510,NA18523,NA18871,NA18907,NA19129,NA19137,NA19147,NA19210,NA19238 nsv878047 3 183507459 183660305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578349 S 6533 0 1 FLJ46066 IS34762 nsv878048 3 183521024 183636100 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551047 S 6533 1 0 "" MS18747 dgv306n21 3 183556597 183642121 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522175,nsv519493 M 2026 2 0 "" nsv508262 3 183680877 183698317 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622474 S 4 0 1 FLJ46066 NA18994 dgv843n67 3 183682121 183682768 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822361,nsv822360 M 31 3 0 FLJ46066 NA18542,NA18968,NA18999 nsv821489 3 183682121 183682768 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420357 S 1 0 1 FLJ46066 NA10851 dgv307n21 3 183724575 183727915 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524864,nsv527442 M 2026 0 2 "" nsv522562 3 183727915 183748340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705945 S 2026 0 1 "" esv2456680 3 183781326 183782236 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182426 S 1 1 0 "" NA18507 esv273410 3 183781661 183782027 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581023 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268711 3 183781672 183782022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540948,essv2521039,essv2536786,essv2543980,essv2556558,essv2570396,essv2521881,essv2550416,essv2547458,essv2529302,essv2565500,essv2563963,essv2554849,essv2561880,essv2528443,essv2539927,essv2520742,essv2556827,essv2551683,essv2532135,essv2569354,essv2578654,essv2550110,essv2558897,essv2569721,essv2561338,essv2544910,essv2523690,essv2541097,essv2542775,essv2540510,essv2564949,essv2534612,essv2539648,essv2549513,essv2559783,essv2521900,essv2531232,essv2532716,essv2567927,essv2528677,essv2567447,essv2541529,essv2570099,essv2553197,essv2559186,essv2541937,essv2568883,essv2543403,essv2556294,essv2527989,essv2562480,essv2539272,essv2578437,essv2572971,essv2555202,essv2533556,essv2529994,essv2527540,essv2555865,essv2531433,essv2526866,essv2529704,essv2575768,essv2575175,essv2538653,essv2560631,essv2524172,essv2560375,essv2571376,essv2574485,essv2551316,essv2536335,essv2548833,essv2532992,essv2554410,essv2524980 M 157 77 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07357,NA11831,NA11894,NA11920,NA11992,NA11994,NA12044,NA12144,NA12234,NA12717,NA12749,NA12812,NA12828,NA12872,NA12874,NA12891,NA18489,NA18498,NA18501,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18520,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18558,NA18561,NA18563,NA18564,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18638,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18943,NA18944,NA18949,NA18952,NA18956,NA18961,NA19005,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19190,NA19238,NA19240,NA19257 esv989925 3 183927830 183927830 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570484 S 3 1 0 "" HuRef nsv237763 3 183927873 183927959 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256341 M 24 "" nsv461031 3 184139304 184225961 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537483 S 1557 0 1 DCUN1D1,MCCC1 1780854339_A nsv508968 3 184174889 184264040 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623397,nssv620775,nssv619344 M 4 3 0 DCUN1D1,MCCC1 NA10860,NA15510,NA18994 esv28631 3 184215824 184216328 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20706 S 451 1 0 MCCC1 NA12156 esv1601884 3 184218358 184218358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166618 S 2 1 0 MCCC1 HuRef esv32850 3 184269745 184269906 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99890 S 51 0 1 MCCC1 22086 esv259725 3 184289241 184290391 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394944 S 144 0 0 Samples from several populations that are part of the HapMap project. MCCC1 NA18545 nsv508970 3 184326646 184413701 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619345,nssv620776 M 4 2 0 LAMP3,MCF2L2 NA10860,NA15510 nsv507143 3 184351093 184357093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622877,nssv617622 M 4 2 0 LAMP3 CHM,NA18994 nsv512819 3 184372286 184373871 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625455 S 1 1 0 "" 1 esv1716819 3 184372366 184372366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773971 S 2 1 0 "" HuRef esv1463996 3 184372404 184372404 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212233 S 2 1 0 "" HuRef nsv822362 3 184378557 184380597 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436517 S 31 1 0 MCF2L2 NA18542 esv996921 3 184407419 184407470 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567962 S 3 0 1 MCF2L2 HuRef esv1507474 3 184407428 184407480 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230583 S 2 0 1 MCF2L2 HuRef nsv4142 3 184511442 184543482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4699 S 9 1 0 MCF2L2 NA19129 esv2583133 3 184515086 184515920 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247763 S 1 1 0 MCF2L2 NA18507 esv1779554 3 184515464 184515464 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611705 S 2 1 0 MCF2L2 HuRef esv8568 3 184516375 184516476 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31009 S 1 1 0 MCF2L2 SJK esv25942 3 184574003 184574606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20524 S 451 0 1 MCF2L2 NA19190 nsv522644 3 184596702 184608048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706044 S 2026 0 1 MCF2L2 nsv517754 3 184600585 184608048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655864,nssv653122,nssv654592,nssv691389,nssv678370,nssv673682,nssv688593,nssv690553,nssv682453 M 2026 0 9 MCF2L2 esv1056936 3 184673526 184673526 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049622 S 2 1 0 "" HuRef nsv4144 3 184704934 184750770 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7054 S 9 0 1 KLHL6 NA12156 nsv878049 3 184706797 184775370 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548724 S 6533 1 0 KLHL6 MS17878 esv259624 3 184734401 184734721 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394135,essv2393732,essv2394024,essv2394381 M 6 0 0 Samples from several populations that are part of the HapMap project. KLHL6 NA12878,NA19238,NA19239,NA19240 esv1009906 3 184734554 184734554 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571722 S 3 1 0 KLHL6 HuRef esv1042642 3 184734613 184734613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989895 S 2 1 0 KLHL6 HuRef esv1329997 3 184861561 184861561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879371 S 2 1 0 KLHL24 HuRef esv27076 3 184863264 184863790 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10819 S 451 0 1 KLHL24 NA18508 nsv507144 3 184950967 184956967 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622878,nssv621734,nssv620233 M 4 3 0 YEATS2 NA10860,NA15510,NA18994 nsv524639 3 185018457 185020453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700604 S 2026 0 1 MAP6D1 esv24115 3 185025405 185026396 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19358 S 451 0 1 MAP6D1 NA07045 nsv520163 3 185044970 185059294 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697257 S 2026 1 0 PARL nsv820085 3 185062190 185064506 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419416 S 2 0 1 PARL AK1 esv2512102 3 185070265 185071156 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346355 S 1 1 0 PARL NA18507 nsv515691 3 185095150 185117286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680977,nssv664434,nssv684835 M 2026 0 3 "" nsv818195 3 185104685 185116268 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417197 S 112 0 1 "" NA18558 nsv520094 3 185109783 185120539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694363 S 2026 0 1 ABCC5 nsv878050 3 185148436 185203270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582541,nssv1556733 M 6533 0 2 ABCC5 IS35993,MS22146 esv25219 3 185155988 185158730 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13842 S 451 0 12 ABCC5 NA06985,NA07037,NA12156,NA12828,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA19190,NA19240 esv1002813 3 185156043 185158673 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586153 S 3 0 1 ABCC5 HuRef dgv5353n71 3 185168228 185203270 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878051,nsv878052,nsv878053,nsv878055,nsv878054 M 6533 0 34 ABCC5 IS30147,IS30398,IS31385,IS32891,IS34573,IS34996,IS35701,IS35788,IS35862,IS36990,IS38390,IS40568,IS40657,IS40729,IS41866,MS16387,MS17399,MS18487,MS18916,MS19587,MS20612,MS21356,MS21706,MS21868,MS22109,MS22898,MS23702,MS24459,MS24624,MS24897,MS25172,MS25617,MS25710,SP57176 nsv4145 3 185224226 185257439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7901 S 9 1 0 HTR3C,HTR3D NA12156 esv28256 3 185283091 185283631 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14452 S 451 0 1 "" NA12414 nsv829812 3 185337137 185502784 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443280,nssv1443279,nssv1443281 M 95 0 3 ABCF3,ALG3,AP2M1,CAMK2N2,DVL3,ECE2,EIF2B5,MIR1224,PSMD2,VWA5B2 nsv878056 3 185349180 185415523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546538 S 6533 0 1 ABCF3,AP2M1,DVL3 MS17208 nsv878057 3 185349180 185569663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585819 S 6533 0 1 ABCF3,ALG3,AP2M1,CAMK2N2,CLCN2,DVL3,ECE2,EIF4G1,FAM131A,MIR1224,POLR2H,PSMD2,SNORD66,VWA5B2 IS37646 esv2514927 3 185358875 185360246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342282 S 1 0 1 DVL3 NA18507 nsv513096 3 185359042 185361832 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626584 S 1 0 1 DVL3 1 esv1000394 3 185359277 185360459 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563791 S 3 0 1 DVL3 HuRef esv1004549 3 185359512 185360099 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578961 S 3 0 1 DVL3 HuRef esv8912 3 185359518 185360115 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31353 S 1 0 1 DVL3 SJK nsv878058 3 185373562 185415523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548725 S 6533 1 0 ABCF3,AP2M1,DVL3 MS17878 dgv5354n71 3 185421112 185483083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878059,nsv878061 M 6533 0 2 ALG3,CAMK2N2,ECE2,MIR1224,VWA5B2 SP54956,SP54988 nsv878060 3 185421112 185599035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592134 S 6533 0 1 ALG3,CAMK2N2,CHRD,CLCN2,ECE2,EIF4G1,FAM131A,MIR1224,POLR2H,PSMD2,SNORD66,THPO,VWA5B2 IS39233 nsv528639 3 185428968 185463110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705270 S 2026 0 1 ALG3,CAMK2N2,ECE2,MIR1224,VWA5B2 nsv4146 3 185453088 185485698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10380 S 9 1 0 CAMK2N2,ECE2 NA18956 nsv878062 3 185456074 185473554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508501 S 6533 0 1 CAMK2N2,ECE2 SP54725 nsv829813 3 185465479 185628478 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443282 S 95 0 1 CHRD,CLCN2,ECE2,EIF4G1,FAM131A,POLR2H,PSMD2,SNORD66,THPO nsv878063 3 185485888 185502375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507094 S 6533 1 0 ECE2,PSMD2 SP54469 esv2422400 3 185499977 185626195 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161275 S 181 1 0 CHRD,CLCN2,EIF4G1,FAM131A,POLR2H,PSMD2,SNORD66,THPO ND04568 nsv822363 3 185565444 185567326 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436520 S 31 1 0 POLR2H NA18542 esv2225212 3 185568280 185568717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647731 S 1 0 1 POLR2H NA18507 esv25970 3 185580403 185581343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13257 S 451 0 1 CHRD NA07045 nsv511206 3 185580481 185581900 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626621 S 1 1 0 CHRD 1 nsv518580 3 185589187 185603505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696024 S 2026 0 1 CHRD nsv829814 3 185604554 185822597 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443287,nssv1443288,nssv1443286,nssv1443285,nssv1443283 M 95 0 5 EPHB3 esv2167881 3 185607872 185608454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724040 S 1 0 1 "" NA18507 esv4195 3 185608029 185608348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26636 S 1 0 1 Single Asian sample YH "" YH esv5939 3 185608058 185608280 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28380 S 1 0 1 "" SJK esv1009274 3 185608067 185608262 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570851 S 3 0 1 "" HuRef dgv130n6 3 185608067 185608265 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv237630,nsv238035 M 24 "" esv4180 3 185615071 185615356 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26621 S 1 0 1 Single Asian sample YH "" YH nsv508971 3 185621158 185654273 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619347,nssv620777,nssv623398 M 4 3 0 "" NA10860,NA15510,NA18994 nsv526521 3 185627340 185640576 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702832 S 2026 0 1 "" nsv4147 3 185631954 185668198 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7902,nssv9876,nssv2434,nssv3218 M 9 4 0 "" NA12156,NA12878,NA18507,NA18555 esv1388449 3 185639406 185639406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334089 S 2 1 0 "" HuRef esv996458 3 185639406 185639579 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564747 S 3 1 0 "" HuRef nsv461032 3 185647311 185746367 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537484 S 1557 1 0 "" NINDS_254 nsv527985 3 185664502 185734097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704504 S 2026 1 0 "" nsv516188 3 185672327 185676882 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678969,nssv666677,nssv672141,nssv658153,nssv667180,nssv681913,nssv681199,nssv696600 M 2026 1 7 "" nsv461033 3 185685725 185715158 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537485 S 1557 0 1 "" 1780862437_A esv1026010 3 185703152 185703152 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743599 S 2 1 0 "" HuRef esv1782820 3 185703277 185703277 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895006 S 2 1 0 "" HuRef esv1261058 3 185703511 185703511 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876289 S 2 1 0 "" HuRef nsv508972 3 185739193 185816846 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619348 S 4 1 0 EPHB3 NA10860 nsv461034 3 185739492 185814140 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537486 S 1557 0 1 EPHB3 NINDS_70 esv272695 3 185756250 185756335 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581440 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv2608289 3 185817195 185818672 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388186 S 1 0 1 "" NA18507 esv1025564 3 185817733 185818031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652212 S 2 0 1 "" HuRef nsv522464 3 185818335 185824207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705828 S 2026 0 1 "" nsv829816 3 185822620 186011808 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443289 S 95 0 1 MAGEF1 nsv508973 3 185854119 185961545 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619349 S 4 1 0 MAGEF1 NA10860 esv22923 3 185952730 185955954 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15263,esv14950 M 451 9 8 "" NA07045,NA11894,NA11993,NA11995,NA12004,NA12239,NA12287,NA12489,NA12749,NA12828,NA18502,NA18517,NA18907,NA19099,NA19108,NA19147,NA19190 esv2498654 3 185953093 185955774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369665 S 1 0 1 "" NA18507 esv2088192 3 185953346 185955119 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4824572 S 1 0 1 "" NA18507 nsv513097 3 185953346 185955401 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626585 S 1 0 1 "" 1 nsv821039 3 185953572 185954657 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420359 S 1 0 1 "" NA10851 esv9562 3 185953803 185955332 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32003 S 1 0 1 "" SJK esv1754068 3 185954024 185954174 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109233 S 2 0 1 "" HuRef nsv471127 3 185956999 185981971 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544676 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00978 nsv520816 3 186055835 186063611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697628 S 2026 1 0 VPS8 esv2643797 3 186095724 186096820 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290774 S 1 1 0 VPS8 NA18507 esv26122 3 186249544 186269451 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17177,esv11769 M 451 5 0 VPS8 NA07037,NA07045,NA11993,NA12006,NA12156 nsv521893 3 186318776 186322146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694665 S 2026 0 1 C3orf70 nsv829817 3 186427607 186609869 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443290 S 95 1 0 EHHADH,MAP3K13 esv2603028 3 186430758 186432776 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274359 S 1 0 1 EHHADH NA18507 esv1781161 3 186431670 186432156 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926705 S 2 0 1 EHHADH HuRef esv2389688 3 186434867 186435278 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684340 S 1 0 1 EHHADH NA18507 esv1007727 3 186435019 186435119 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577898 S 3 0 1 EHHADH HuRef esv1439528 3 186435088 186435189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071503 S 2 0 1 EHHADH HuRef dgv5355n71 3 186472127 186562181 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878065,nsv878064 M 6533 2 0 MAP3K13 SP54735,SP56842 esv2545135 3 186499458 186500794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182820 S 1 0 1 MAP3K13 NA18507 esv2339714 3 186499855 186500550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748029 S 1 0 1 MAP3K13 NA18507 esv3258 3 186499959 186500417 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25699 S 1 0 1 Single Asian sample YH MAP3K13 YH esv7825 3 186500021 186500347 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30266 S 1 0 1 MAP3K13 SJK esv1742989 3 186500034 186500359 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655962 S 2 0 1 MAP3K13 HuRef nsv441852 3 186584116 186589711 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MAP3K13 nsv822366 3 186589423 186591960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424902 S 31 0 1 MAP3K13 AK2 nsv237556 3 186595859 186601387 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256134 M 24 MAP3K13 nsv829818 3 186612227 186768122 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443291 S 95 0 1 LIPH,MAP3K13,TMEM41A esv1687636 3 186656083 186656083 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854518 S 2 1 0 MAP3K13 HuRef esv1283224 3 186739220 186739220 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207144 S 2 1 0 LIPH HuRef nsv237078 3 186739221 186739308 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255656 M 24 LIPH esv275409 3 186743138 186749320 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586015 S 1250 0 1 LIPH nsv878066 3 186772951 186824664 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501308 S 6533 1 0 SENP2 SP50896 nsv4148 3 186793388 186825598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10381 S 9 1 0 SENP2 NA18956 esv990977 3 186925146 186927804 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565133 S 3 0 1 IGF2BP2 HuRef esv24560 3 187048081 187050575 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10677 S 451 0 2 "" NA18502,NA19225 esv1582139 3 187078305 187078305 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040851 S 2 1 0 "" HuRef nsv461035 3 187137618 187163280 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537487 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC344887,TRA2B HGDP01300 nsv4149 3 187146335 187178230 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10382 S 9 1 0 LOC344887 NA18956 nsv529015 3 187159044 187163280 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705726 S 2026 1 0 LOC344887 nsv523839 3 187164823 187166597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699671 S 2026 0 1 LOC344887 esv1421665 3 187215598 187215598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024335 S 2 1 0 "" HuRef nsv237777 3 187326051 187326870 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256355 M 24 "" nsv822367 3 187382652 187385315 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424115 S 31 0 1 DGKG NA18582 nsv820248 3 187388516 187388727 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419248 S 2 0 1 DGKG AK1 nsv4150 3 187408115 187420190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9634 S 9 1 0 DGKG NA18507 nsv878067 3 187460004 187524676 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548726 S 6533 1 0 DGKG MS17878 esv1567505 3 187555743 187555743 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208327 S 2 1 0 DGKG HuRef esv268182 3 187562263 187567683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516119 S 157 1 0 Samples from several populations that are part of the HapMap project. DGKG NA12873 esv26874 3 187577414 187579572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17311 S 451 0 3 "" NA18909,NA18916,NA19108 esv2525500 3 187605836 187606872 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228969 S 1 1 0 "" NA18507 nsv4151 3 187610133 187643613 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7903 S 9 1 0 "" NA12156 esv2549803 3 187663987 187666537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214673 S 1 0 1 LOC253573 NA18507 esv1981586 3 187664594 187666025 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595233 S 1 0 1 LOC253573 NA18507 esv23127 3 187664823 187665816 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19292 S 451 0 1 LOC253573 NA19225 nsv4152 3 187675126 187695355 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2435 S 9 1 0 LOC253573 NA18555 nsv461036 3 187678017 187711917 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537488 S 1557 0 1 LOC253573 1780854205_A esv275473 3 187732413 187737743 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585790 S 1250 0 1 "" nsv508974 3 187801941 187901884 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619350 S 4 1 0 AHSG,FETUB,HRG NA10860 dgv1541e1 3 187819828 188050020 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20888,esv518,essv19961 M 271 0 0 ADIPOQ,AHSG,EIF4A2,FETUB,HRG,KNG1,MIR1248,RFC4,SNORA4,SNORA63,SNORA81,SNORD2 NA12801,NA12813 nsv4153 3 187826188 187866447 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv353,nssv2436,nssv4700 M 9 3 0 FETUB NA18555,NA19129,NA19240 nsv525368 3 187847837 187848003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701488 S 2026 0 1 FETUB nsv878068 3 187848003 187925712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548727 S 6533 1 0 FETUB,HRG,KNG1 MS17878 essv25049 3 187853044 187897570 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FETUB,HRG NA12801 esv270910 3 187854793 187860872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519286,essv2516375,essv2517791,essv2517323,essv2519000,essv2513799,essv2518226 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12814,NA12878,NA18970,NA19141,NA19143,NA19240 esv274460 3 187854793 187860872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581322,essv2581247 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv436928 3 187857365 187902864 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466809 S 60 0 1 Samples from several populations that are part of the HapMap project. HRG NA12801 esv29238 3 187869271 187907276 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18543,esv15802 M 451 0 2 HRG NA07045,NA12004 nsv516553 3 187869993 187902864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680455,nssv671106,nssv669119,nssv660131,nssv680617,nssv690610,nssv689980,nssv681957 M 2026 0 8 HRG nsv818196 3 187869993 187902864 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416046,nssv1416047 M 112 0 2 HRG NA12801,NA12813 essv23735 3 187869993 187910034 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. HRG NA12813 nsv437901 3 187872253 187878266 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467882,nssv467883,nssv467881,nssv467880 M 269 0 2 Samples from several populations that are part of the HapMap project. HRG NA12801,NA12813 esv32646 3 187890767 187901884 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96956,essv94603,essv96202,essv93372 M 51 0 4 "" 21817,21932,22007,22170 nsv436930 3 187893269 187902864 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466811 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10838 nsv436929 3 187893269 187910755 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466810 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07348 esv2421400 3 187893770 187900465 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5114473,essv5146530,essv5002085,essv5034222,essv5092295,essv5119276,essv5082223,essv5041168,essv5083570,essv5013045,essv5030351,essv5063679,essv5018145,essv5107365,essv5067744,essv5038231 M 1184 0 16 "" NA06997,NA07045,NA07348,NA07357,NA10838,NA11882,NA11992,NA12335,NA12340,NA12763,NA12801,NA12813,NA12830,NA19777,NA20770,NA20828 nsv442885 3 187895555 187898214 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv34136 3 187897578 188237424 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ADIPOQ,EIF4A2,KNG1,MIR1248,RFC4,SNORA4,SNORA63,SNORA81,SNORD2,ST6GAL1 nsv878069 3 187921087 187922937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518978 S 6533 0 1 KNG1 SP80925 nsv878070 3 187923253 187936874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502004 S 6533 0 1 KNG1 SP51132 esv1283295 3 187951799 187951799 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116449 S 2 1 0 "" HuRef nsv10365 3 187988573 187992733 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12403,nssv29095 M 31 0 2 Samples from several populations that are part of the HapMap project. EIF4A2,RFC4 NA18504,NA19144 nsv526938 3 187988594 187990616 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703306 S 2026 1 0 EIF4A2,RFC4 esv1293846 3 188003587 188004426 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159997 S 2 0 1 RFC4 HuRef nsv508263 3 188036962 188125422 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618731,nssv617483,nssv619928 M 4 0 3 ADIPOQ CHM,NA10860,NA15510 nsv878071 3 188049768 188062438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512775,nssv1499961 M 6533 2 0 ADIPOQ SP50109,SP55621 nsv4155 3 188050570 188099799 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2437,nssv354,nssv11071,nssv7904,nssv3219,nssv4701 M 9 0 6 ADIPOQ NA12156,NA12878,NA15510,NA18555,NA19129,NA19240 nsv246 3 188056986 188080903 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv246 S 1 0 1 ADIPOQ NA15510 esv990499 3 188061387 188068841 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565547 S 3 0 1 "" HuRef esv2515534 3 188062851 188068294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389168 S 1 0 1 "" NA18507 nsv436374 3 188063302 188069896 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466048 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2154672 3 188063523 188068183 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589500 S 1 0 1 "" NA18507 nsv513098 3 188063656 188067972 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626586 S 1 0 1 "" 1 esv4395 3 188063692 188068110 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26836 S 1 0 1 Single Asian sample YH "" YH dgv41n47 3 188063709 188067997 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499024,nsv499025 M 9 0 2 "" esv1410182 3 188063727 188067996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681865 S 2 0 1 "" HuRef nsv435747 3 188063727 188068135 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466049 S 2 0 1 "" NA15510 esv6575 3 188063731 188067998 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29016 S 1 0 1 "" SJK esv29870 3 188066795 188067765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11625 S 451 0 1 "" NA19190 nsv822368 3 188086295 188087016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435798 S 31 0 1 "" NA18566 dgv1542e1 3 188092428 188266978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2517,esv39 M 271 0 0 ST6GAL1 NA19003 nsv508975 3 188137104 188187336 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623399 S 4 1 0 ST6GAL1 NA18994 esv1985985 3 188185088 188185463 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903332 S 1 0 1 ST6GAL1 NA18507 esv1371504 3 188185261 188185342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020229 S 2 0 1 ST6GAL1 HuRef nsv878072 3 188205144 188238576 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548728 S 6533 1 0 ST6GAL1 MS17878 nsv519618 3 188258847 188261522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676427,nssv657082 M 2026 0 2 ST6GAL1 nsv4156 3 188270645 188315872 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7905 S 9 0 1 ST6GAL1 NA12156 nsv4157 3 188295332 188330132 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv355 S 9 1 0 RPL39L NA19240 esv2616154 3 188308789 188310246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201708 S 1 0 1 "" NA18507 esv2034666 3 188309182 188309856 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806373 S 1 0 1 "" NA18507 esv9390 3 188309360 188309673 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31831 S 1 0 1 "" SJK nsv878073 3 188339718 188383693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516469 S 6533 1 0 RPL39L SP56842 nsv4158 3 188367300 188398326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10383 S 9 1 0 RTP1 NA18956 nsv508264 3 188370123 188427191 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619929 S 4 0 1 MASP1,RTP1 NA15510 esv23875 3 188389072 188451374 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18695 S 451 1 0 MASP1,RTP1 NA12156 nsv878074 3 188414735 188636065 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551986 S 6533 1 0 MASP1,RTP4 MS19068 esv269708 3 188440620 188440705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514608,essv2514039,essv2518577,essv2514255,essv2517228,essv2518912,essv2518344 M 157 7 0 Samples from several populations that are part of the HapMap project. MASP1 NA11840,NA12043,NA12287,NA12874,NA18970,NA19239,NA19240 esv272237 3 188440625 188440939 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584720,essv2583423 M 7 2 0 Samples from several populations that are part of the HapMap project. MASP1 NA19239,NA19240 nsv878075 3 188528310 188636065 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536954 S 6533 1 0 RTP4 MS13030 nsv521201 3 188548314 188551877 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685000,nssv687563 M 2026 2 0 "" nsv7357 3 188580787 188666544 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4702,nssv4703,nssv9635,nssv356,nssv10384,nssv9387,nssv7055,nssv2438 M 9 0 0 "" NA12156,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv1791269 3 188584261 188584261 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164226 S 2 1 0 "" HuRef esv1637305 3 188602929 188602979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617613 S 2 0 1 "" HuRef esv1002530 3 188612816 188629289 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565784 S 3 0 0 "" HuRef dgv42n47 3 188615327 188629299 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499502,nsv499806 M 9 0 0 "" nsv499783 3 188616885 188626498 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585545 S 9 0 0 "" esv1709594 3 188618642 188626799 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174521 S 2 0 0 "" HuRef esv2751986 3 188619363 188724992 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983201,essv6983202,essv6986368,essv6983200 M 771 1 0 "" BEC_554 nsv4159 3 188700595 188745444 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4705 S 9 0 1 "" NA19129 nsv878076 3 188773453 188840737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548729 S 6533 1 0 "" MS17878 esv2252378 3 188797970 188798392 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790519 S 1 0 1 "" NA18507 nsv878077 3 188878449 188977484 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548730 S 6533 1 0 BCL6,LOC100131635,RTP2 MS17878 esv1333666 3 188918551 188918551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139147 S 2 1 0 LOC100131635 HuRef esv992102 3 188918646 188918646 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582125 S 3 1 0 LOC100131635 HuRef esv6439 3 188958875 188958960 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28880 S 1 1 0 "" SJK esv2141320 3 189045697 189046098 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594579 S 1 0 1 "" NA18507 dgv5356n71 3 189049617 189088009 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878078,nsv878084,nsv878080,nsv878081 M 6533 8 0 "" SP51022,SP51238,SP53317,SP54189,SP54362,SP54993,SP57008,SP81194 dgv5357n71 3 189049617 189097950 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878079,nsv878082 M 6533 6 0 "" SP50528,SP52830,SP52851,SP54138,SP54894,SP56513 nsv878083 3 189057974 189083053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499088,nssv1500631 M 6533 2 0 "" SP50120,SP50128 nsv878085 3 189057974 189097950 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505409,nssv1505724,nssv1501738,nssv1516252,nssv1519172,nssv1511860,nssv1502698,nssv1512556,nssv1501032 M 6533 8 1 "" SP50859,SP51104,SP51339,SP53458,SP53883,SP55131,SP55553,SP56710,SP80975 nsv822369 3 189068910 189090773 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427416 S 31 1 0 "" AK8 dgv1543e1 3 189069534 189083053 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1085,essv5607 M 271 0 0 "" NA18593 nsv526329 3 189069696 189088009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702619 S 2026 0 1 "" dgv631n27 3 189069696 189088496 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461044,nsv461043,nsv461040,nsv461041,nsv461038,nsv461042,nsv461037 M 1557 7 0 "" HGDP00124,HGDP00125,HGDP00768,HGDP00779,HGDP00952,HGDP01209,HGDP01347 nsv818197 3 189069696 189088496 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417274 S 112 1 0 "" NA18593 nsv461045 3 189069696 189098556 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537497 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00973 nsv878086 3 189070613 189097950 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527439 S 6533 1 0 "" SP58416 nsv511211 3 189210209 189218381 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626676 S 1 0 1 "" 1 nsv513099 3 189215386 189217599 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626589 S 1 0 1 "" 1 nsv820888 3 189215515 189217649 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420360 S 1 0 1 "" NA10851 esv23108 3 189215539 189217605 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11565 S 451 29 1 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12414,NA12489,NA12749,NA12828,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1002360 3 189215629 189217605 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586456 S 3 1 0 "" HuRef nsv4160 3 189250994 189261341 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3121 S 9 1 0 "" NA18555 esv267454 3 189317968 189318053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518656,essv2514878,essv2515858,essv2517584,essv2519044,essv2513972,essv2518252,essv2519425 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12045,NA12234,NA12873,NA12878,NA19141,NA19143,NA19240 esv274225 3 189317968 189318053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581368,essv2581136 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv2751987 3 189325415 189489992 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983003,essv6983002,essv6983001,essv6983000,essv6986319 M 771 1 0 FLJ42393,LPP,LPP-AS2 BEC_532 esv34193 3 189330425 189751275 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 FLJ42393,LPP,LPP-AS2 esv1535519 3 189381292 189381292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162220 S 2 1 0 LPP HuRef nsv461046 3 189406409 189608035 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537498 S 1557 0 1 LPP 1780862101_A nsv4161 3 189427517 189439666 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3220 S 9 1 0 LPP NA12878 nsv819096 3 189559690 189564855 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419686 S 2 0 1 LPP AK1 esv33400 3 189561208 189883105 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99405 S 51 1 0 LPP 22335 nsv461047 3 189591696 189675080 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537499 S 1557 0 1 LPP 1798860251_A nsv822370 3 189618335 189619520 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433576 S 31 0 1 LPP NA18526 esv270890 3 189717083 189717821 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502567,essv2511912,essv2493203,essv2509874,essv2494845,essv2506127,essv2508734,essv2500432,essv2503343,essv2512943,essv2497123,essv2508299,essv2504527,essv2500623,essv2512703,essv2508711,essv2499328,essv2501541,essv2495530,essv2493134,essv2500715,essv2504843,essv2506987,essv2510876,essv2499748,essv2512077,essv2501830,essv2498063 M 157 28 0 Samples from several populations that are part of the HapMap project. LPP NA12750,NA18499,NA18504,NA18508,NA18519,NA18523,NA18532,NA18537,NA18542,NA18547,NA18552,NA18561,NA18563,NA18571,NA18577,NA18592,NA18605,NA18608,NA18916,NA18951,NA18973,NA19099,NA19102,NA19116,NA19225,NA19238,NA19239,NA19240 esv274075 3 189717083 189717968 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580517 S 7 1 0 Samples from several populations that are part of the HapMap project. LPP NA19238 esv2471009 3 189755946 189757441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355462 S 1 0 1 LPP NA18507 esv2506913 3 189786778 189788393 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307792 S 1 0 1 LPP NA18507 esv2313176 3 189787380 189788062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572407 S 1 0 1 LPP NA18507 nsv236225 3 189787526 189787858 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254803 M 24 LPP esv7339 3 189787543 189787865 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29780 S 1 0 1 LPP SJK esv1727014 3 189787543 189787876 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805694 S 2 0 1 LPP HuRef nsv878087 3 189888490 189938665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524732 S 6533 0 1 LPP SP55189 nsv4162 3 189940726 189965141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9636 S 9 1 0 LPP NA18507 esv2541501 3 189984585 189986469 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169636 S 1 0 1 LPP NA18507 nsv513100 3 189984619 189986488 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626590 S 1 0 1 LPP 1 nsv4163 3 190156797 190201943 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4706 S 9 0 1 "" NA19129 nsv829819 3 190327150 190481102 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443292 S 95 1 0 TPRG1 esv24459 3 190347300 190348209 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16045 S 451 11 0 "" NA11931,NA11995,NA12749,NA12828,NA18508,NA18907,NA19108,NA19114,NA19147,NA19225,NA19257 esv270461 3 190365886 190366228 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565765,essv2576090,essv2540684,essv2546629,essv2521306,essv2536397,essv2544036,essv2570664,essv2521827,essv2554150,essv2547391,essv2558561,essv2564427,essv2578065,essv2553598,essv2559575,essv2576186,essv2530704,essv2562073,essv2537618,essv2546890,essv2532273,essv2558918,essv2536889,essv2539161,essv2561482,essv2563065,essv2523742,essv2552834,essv2541287,essv2540446,essv2524637,essv2534918,essv2539517,essv2519655,essv2566167,essv2531109,essv2532613,essv2567891,essv2528841,essv2535611,essv2572555,essv2559098,essv2543402,essv2528065,essv2573041,essv2567185,essv2566497,essv2531413,essv2543385,essv2572088,essv2575728,essv2538561,essv2560916,essv2545094,essv2560279,essv2571486,essv2537833,essv2554803,essv2525166 M 157 60 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07357,NA11829,NA11830,NA11831,NA11881,NA11894,NA11920,NA11992,NA12044,NA12144,NA12287,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12873,NA12874,NA12878,NA12892,NA18505,NA18516,NA18517,NA18519,NA18523,NA18532,NA18537,NA18542,NA18545,NA18552,NA18555,NA18561,NA18563,NA18566,NA18572,NA18573,NA18576,NA18577,NA18579,NA18608,NA18609,NA18638,NA18870,NA18907,NA18942,NA18947,NA18948,NA18961,NA18965,NA18973,NA19099,NA19108,NA19137,NA19172,NA19190,NA19238 esv273026 3 190365889 190366229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581721,essv2583270,essv2584174 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 nsv236710 3 190478187 190482698 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255288 M 24 TPRG1 dgv5358n71 3 190560614 190647888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878088,nsv878089 M 6533 0 2 "" IS35181,MS17114 nsv4164 3 190560809 190600552 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2439,nssv357 M 9 0 2 "" NA18555,NA19240 nsv499026 3 190574681 190582771 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585887 S 9 0 1 "" nsv514190 3 190574704 190581680 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627627 S 1414 0 1 "" esv28150 3 190574711 190582755 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11296 S 451 0 1 "" NA19240 esv2421787 3 190577002 190581421 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016406,essv5063612,essv5114521,essv5147828,essv5052483,essv5130663,essv5004499,essv5075992,essv5144022,essv5138217,essv5150943,essv5097253,essv5056337,essv5146801,essv5037019,essv5011370,essv5064273,essv5018382,essv5002808,essv5148504,essv5043804,essv5145868,essv5159589,essv5070232,essv5030672,essv5110954,essv5033636,essv5036050,essv5087286,essv5144503,essv5025600,essv5049391,essv5128226,essv5014803,essv5067672,essv5029060,essv5152132,essv5089637,essv5025783,essv5101538,essv5108631,essv5013260,essv5072217,essv5002530,essv5044174,essv5117318,essv5060554,essv5134844,essv5046734,essv5112861,essv5053541,essv5081079,essv5160391,essv5025564,essv5159763,essv5015331,essv5120767,essv5127854,essv5057044,essv5010195,essv5080745,essv5007808,essv5071364,essv5072002,essv5126969,essv5138156,essv5025119,essv5037740,essv5007837,essv5123526,essv5034568,essv5115014,essv5062090,essv5035644,essv5039737,essv5101922,essv5159049,essv5023328,essv5132411,essv5007119,essv5017817,essv5005698,essv5043632,essv5109007,essv5025936,essv5120490,essv5037692,essv5063637,essv5093885,essv5105834,essv5006044,essv5058306,essv5089603,essv5023776,essv5131412,essv5138659,essv5037711,essv5014790,essv5068731,essv5029968,essv5046479,essv5147901 M 1184 0 102 "" NA17979,NA17982,NA18108,NA18109,NA18117,NA18132,NA18138,NA18140,NA18147,NA18153,NA18155,NA18160,NA18488,NA18526,NA18542,NA18545,NA18555,NA18557,NA18562,NA18577,NA18582,NA18593,NA18594,NA18599,NA18605,NA18631,NA18634,NA18635,NA18868,NA18913,NA18914,NA18917,NA18924,NA18930,NA18946,NA18949,NA18951,NA18952,NA18966,NA18976,NA18987,NA18998,NA19007,NA19010,NA19038,NA19041,NA19059,NA19062,NA19064,NA19065,NA19067,NA19068,NA19075,NA19083,NA19085,NA19086,NA19087,NA19101,NA19107,NA19109,NA19122,NA19123,NA19146,NA19148,NA19153,NA19154,NA19160,NA19161,NA19191,NA19192,NA19238,NA19240,NA19309,NA19314,NA19316,NA19334,NA19399,NA19431,NA19712,NA19909,NA19916,NA20127,NA20317,NA20319,NA20805,NA21316,NA21355,NA21359,NA21371,NA21403,NA21404,NA21441,NA21442,NA21478,NA21480,NA21526,NA21597,NA21600,NA21601,NA21613,NA21689,NA21733 nsv878090 3 190584140 190642046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567935 S 6533 0 1 "" IS31179 esv273287 3 190598503 190598604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580465,essv2580688,essv2579800 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19240 esv270326 3 190598517 190598607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542534,essv2577429,essv2535060,essv2520276,essv2565238,essv2528431,essv2546800,essv2533010 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11919,NA12043,NA12249,NA12716,NA12812,NA12891,NA12892 nsv509872 3 190645093 190651093 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623929,nssv622038,nssv618594 M 4 0 3 "" CHM,NA10860,NA18994 nsv4166 3 190673865 190718537 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7906 S 9 0 1 "" NA12156 nsv878091 3 190722215 190802861 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548731 S 6533 1 0 "" MS17878 esv2074076 3 190746655 190747071 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924587 S 1 0 1 "" NA18507 esv1346903 3 190746864 190746934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262926 S 2 0 1 "" HuRef esv269538 3 190768834 190769176 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494646,essv2500990,essv2509144,essv2506536 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18856,NA18909,NA19108 nsv508265 3 190836722 190860678 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622475 S 4 0 1 TP63 NA18994 nsv4167 3 190839287 190862875 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2440 S 9 0 1 TP63 NA18555 esv32548 3 190842096 190842264 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94133 S 51 0 1 TP63 21802 nsv436370 3 190844607 190853660 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466050 S 2 0 1 Samples from several populations that are part of the HapMap project. TP63 NA18505 dgv78n17 3 190844633 190853708 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437352,nsv437351 M 60 0 2 TP63 NA18854,NA19221 esv32915 3 190844648 190853609 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101466,essv101092,essv94660,essv95560,essv99111,essv96074,essv99617,essv94938,essv100154,essv98432 M 51 0 10 TP63 21603,21693,21791,21847,21938,22127,22217,22231,22286,22352 esv2591138 3 190845141 190853934 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319509 S 1 0 1 TP63 NA18507 nsv10366 3 190845496 190853757 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29149,nssv29082,nssv13080,nssv12463,nssv29234,nssv11724,nssv11808 M 31 0 7 Samples from several populations that are part of the HapMap project. TP63 NA18504,NA18537,NA18563,NA18564,NA18942,NA18975,NA19221 nsv819295 3 190845849 190854022 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419859 S 2 0 1 TP63 AK1 esv28218 3 190845902 190874537 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11225,esv15928 M 451 1 9 TP63 NA11931,NA18502,NA18505,NA18508,NA18907,NA19099,NA19108,NA19114,NA19190,NA19225 esv2305625 3 190845926 190853682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889722 S 1 0 1 TP63 NA18507 esv1003991 3 190846089 190853917 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564003 S 3 0 1 TP63 HuRef nsv442887 3 190846372 190847332 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TP63 esv2422067 3 190846372 190849457 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5073624,essv5038262,essv5068320,essv5054606,essv5152070,essv5028374,essv5073465,essv5040458,essv5150012,essv5024007,essv5003560,essv5143805,essv5051133,essv5098975,essv5013928,essv5009794,essv5037882,essv5122321,essv5072109,essv5132294,essv5021332,essv5136698,essv5041102,essv5143486,essv5153387,essv5113158,essv5043064,essv5100236,essv5146014,essv5013487,essv5138165,essv5147528,essv5047711,essv5071777,essv5094409,essv5019531,essv5030980,essv5068623,essv5151334,essv5099631,essv5097841,essv5037355,essv5050094,essv5041691,essv5059351,essv5046420,essv5095681,essv5151944,essv5093783,essv5046333,essv5025906,essv5066178,essv5053673,essv5079667,essv5154950,essv5046800,essv5120137,essv5003382,essv5074012,essv5022358,essv5021121,essv5111672,essv5003572,essv5049724,essv5035313,essv5086662,essv5005895,essv5065186,essv5093170,essv5096838,essv5093893,essv5142838,essv5078106,essv5107450,essv5079019,essv5150930,essv5138058,essv5102988,essv5080474,essv5021633,essv5099662,essv5031274,essv5026349,essv5046083,essv5061667,essv5155901,essv5142468,essv5059388,essv5106706,essv5014773,essv5047340,essv5036228,essv5083825,essv5027753,essv5101172,essv5041639,essv5109328,essv5132889,essv5046560,essv5061096,essv5100884,essv5139959,essv5108900,essv5040270,essv5052419,essv5021725,essv5026979,essv5123022,essv5012018,essv5008344,essv5070391,essv5058915,essv5114230,essv5152604,essv5138678,essv5012864,essv5075654,essv5108417,essv5075964,essv5149973,essv5060466,essv5020495,essv5160717,essv5064109,essv5011763,essv5074265,essv5058289,essv5027397,essv5041579,essv5102593,essv5132311,essv5125995,essv5138860,essv5140637,essv5037113,essv5134208,essv5007136,essv5080170,essv5112205,essv5084493,essv5126023,essv5094390,essv5047600,essv5045784,essv5109583,essv5124432,essv5003901,essv5074719,essv5080733,essv5011224,essv5108146,essv5037988,essv5077285,essv5127986,essv5153703,essv5014028,essv5125758,essv5153289,essv5084687,essv5094872,essv5143181,essv5014194,essv5072868,essv5084183,essv5137479,essv5034011,essv5087550,essv5014116,essv5004182,essv5005631,essv5106680,essv5135669,essv5095824,essv5043278,essv5021640,essv5139608,essv5131280,essv5104979,essv5018208,essv5024511,essv5116995,essv5091211,essv5056894,essv5150689,essv5141454,essv5132307,essv5092506,essv5014152,essv5100484,essv5003994,essv5112416,essv5086174,essv5098451,essv5150122,essv5063800,essv5080105,essv5061917,essv5003854,essv5145177,essv5140456,essv5031040,essv5092805,essv5035017,essv5008752,essv5021439,essv5078990,essv5115877,essv5130514,essv5126644,essv5063309,essv5130804,essv5054381,essv5103187,essv5038492,essv5118428,essv5159253,essv5018847,essv5005861,essv5159507,essv5127661,essv5116711,essv5027138,essv5158550,essv5033242,essv5129098,essv5144260,essv5058059,essv5013704,essv5050050,essv5054664,essv5069313,essv5059977,essv5134526,essv5151094,essv5003736,essv5117529,essv5085755,essv5040809,essv5059934,essv5088105,essv5034172,essv5073597,essv5042899,essv5115229,essv5116997,essv5138356,essv5029910,essv5044562,essv5110085,essv5081172,essv5070200,essv5127470,essv5141147,essv5129361,essv5145799,essv5081979,essv5139855,essv5084824,essv5035030,essv5004587,essv5008208,essv5028407,essv5008151,essv5081469,essv5114756,essv5101730,essv5154093,essv5081894,essv5115896,essv5070458,essv5107770,essv5098339,essv5048102,essv5120370,essv5075830,essv5121327,essv5080669,essv5071589,essv5075040,essv5134371,essv5029487,essv5104767,essv5004153,essv5086979,essv5080230,essv5022844,essv5056982,essv5027083,essv5139785,essv5023110,essv5129868,essv5139234,essv5055663,essv5118717,essv5079867,essv5088235,essv5019594,essv5116915,essv5115221,essv5160015,essv5080777,essv5040905,essv5142721,essv5009818,essv5083380,essv5002541,essv5034946,essv5118131,essv5097176,essv5047795,essv5030728,essv5126062,essv5075733,essv5127047,essv5118123,essv5065418,essv5074453,essv5161020,essv5117990,essv5085180,essv5037855,essv5040312,essv5065137,essv5048511,essv5023149,essv5029648,essv5067224,essv5018821,essv5156132,essv5071135,essv5010337,essv5072905,essv5088659,essv5113682,essv5103973,essv5150640,essv5019693,essv5157549,essv5143757,essv5099645,essv5120419,essv5022429,essv5087618,essv5058650,essv5115564,essv5040607,essv5091858,essv5012848,essv5123208,essv5137235,essv5137609,essv5052040,essv5017450,essv5143011,essv5082916,essv5113206,essv5044431,essv5060083,essv5155179,essv5143324,essv5055905,essv5068398,essv5017793,essv5022390,essv5073698,essv5129018,essv5111703,essv5049615,essv5091881,essv5144147,essv5108466,essv5130699,essv5046088,essv5140866,essv5049142,essv5006594,essv5112697,essv5136145,essv5096861,essv5092555,essv5028443,essv5085630,essv5115623,essv5009524,essv5054092,essv5036205,essv5049634,essv5106074,essv5107408,essv5081201,essv5146229,essv5067839,essv5131389,essv5160740,essv5135948,essv5032301,essv5118694,essv5159379,essv5018712,essv5129652,essv5013572,essv5003120 M 1184 0 402 TP63 NA10836,NA10845,NA10852,NA11931,NA12045,NA12249,NA12264,NA12272,NA12340,NA12386,NA12399,NA12753,NA12762,NA12763,NA12817,NA12827,NA12829,NA12832,NA12842,NA12873,NA12877,NA12890,NA17962,NA17966,NA17967,NA17970,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17982,NA17983,NA17988,NA17989,NA17990,NA17993,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18138,NA18140,NA18144,NA18146,NA18147,NA18150,NA18151,NA18152,NA18153,NA18155,NA18158,NA18166,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18511,NA18516,NA18526,NA18529,NA18534,NA18536,NA18537,NA18543,NA18544,NA18545,NA18546,NA18555,NA18558,NA18559,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18579,NA18592,NA18594,NA18595,NA18596,NA18597,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18615,NA18616,NA18618,NA18619,NA18620,NA18622,NA18623,NA18626,NA18627,NA18628,NA18632,NA18633,NA18635,NA18637,NA18638,NA18639,NA18641,NA18642,NA18643,NA18670,NA18682,NA18685,NA18689,NA18696,NA18702,NA18740,NA18745,NA18747,NA18749,NA18757,NA18852,NA18854,NA18857,NA18868,NA18873,NA18910,NA18911,NA18917,NA18933,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18946,NA18947,NA18949,NA18953,NA18954,NA18959,NA18961,NA18962,NA18963,NA18967,NA18968,NA18969,NA18970,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18987,NA18990,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19002,NA19005,NA19010,NA19027,NA19035,NA19036,NA19038,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19083,NA19084,NA19087,NA19088,NA19096,NA19099,NA19108,NA19109,NA19114,NA19115,NA19117,NA19118,NA19119,NA19122,NA19138,NA19141,NA19142,NA19149,NA19151,NA19152,NA19153,NA19154,NA19160,NA19161,NA19174,NA19175,NA19176,NA19181,NA19183,NA19184,NA19190,NA19191,NA19197,NA19198,NA19201,NA19209,NA19210,NA19211,NA19221,NA19223,NA19225,NA19226,NA19236,NA19237,NA19238,NA19239,NA19248,NA19249,NA19309,NA19314,NA19315,NA19317,NA19318,NA19321,NA19371,NA19372,NA19375,NA19379,NA19380,NA19383,NA19385,NA19390,NA19428,NA19430,NA19435,NA19436,NA19437,NA19438,NA19439,NA19449,NA19451,NA19452,NA19625,NA19658,NA19676,NA19704,NA19705,NA19712,NA19713,NA19762,NA19783,NA19784,NA19819,NA19828,NA19901,NA19902,NA19908,NA19916,NA19917,NA19918,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20290,NA20301,NA20319,NA20336,NA20347,NA20359,NA20363,NA20364,NA20521,NA20528,NA20529,NA20539,NA20582,NA20850,NA20851,NA20852,NA20853,NA20854,NA20870,NA20871,NA20877,NA20883,NA20884,NA20889,NA20892,NA20895,NA20898,NA20901,NA20908,NA20909,NA20911,NA21088,NA21094,NA21099,NA21105,NA21109,NA21112,NA21115,NA21117,NA21144,NA21295,NA21297,NA21300,NA21312,NA21313,NA21314,NA21333,NA21352,NA21353,NA21356,NA21359,NA21367,NA21370,NA21379,NA21390,NA21400,NA21402,NA21404,NA21405,NA21414,NA21417,NA21435,NA21451,NA21454,NA21455,NA21473,NA21479,NA21480,NA21486,NA21487,NA21512,NA21513,NA21514,NA21522,NA21527,NA21583,NA21587,NA21597,NA21599,NA21608,NA21614,NA21615,NA21634,NA21636,NA21693,NA21716,NA21719,NA21733,NA21738,NA21741,NA21768,NA21825 esv989738 3 190846546 190853621 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587141 S 3 0 1 TP63 HuRef dgv844n67 3 190846546 190853697 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822372,nsv822373,nsv822374,nsv822371 M 31 0 21 TP63 AK10,AK14,AK16,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18997,NA18999 esv2479487 3 190846674 190854328 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225718 S 1 0 1 TP63 NA18507 esv1008360 3 190846732 190850782 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586724 S 3 0 1 TP63 HuRef nsv514191 3 190846768 191021280 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627628 S 1414 0 1 TP63 nsv437902 3 190846788 190850343 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467893,nssv467884,nssv467891,nssv467888,nssv467887,nssv467885,nssv467890,nssv467892,nssv467889 M 269 0 9 Samples from several populations that are part of the HapMap project. TP63 NA18503,NA18504,NA18547,NA18570,NA18609,NA18612,NA18944,NA18949,NA19211 nsv819418 3 190847118 190849457 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418863 S 2 0 1 TP63 AK1 nsv517128 3 190848118 190848264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661688,nssv664783,nssv652104,nssv679052,nssv670938,nssv687699,nssv686402,nssv687717,nssv668050,nssv682465,nssv655333,nssv689072,nssv676428,nssv671023,nssv662109,nssv676592,nssv652140,nssv653829,nssv675944,nssv673794,nssv678150,nssv668358,nssv691027,nssv656361,nssv678304,nssv655716,nssv662256 M 2026 0 27 TP63 nsv10367 3 190853757 190856470 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13133 S 31 1 0 Samples from several populations that are part of the HapMap project. TP63 NA18972 nsv878092 3 190974834 191015844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579103 S 6533 0 1 TP63 IS35018 nsv516668 3 191009871 191015844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673111,nssv670028 M 2026 0 2 TP63 nsv527224 3 191032117 191034114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703624 S 2026 0 1 TP63 esv2476340 3 191058012 191059556 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260607 S 1 0 1 TP63 NA18507 esv2222823 3 191058396 191059122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000708 S 1 0 1 TP63 NA18507 esv5865 3 191058587 191058914 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28306 S 1 0 1 TP63 SJK esv2465572 3 191078339 191079752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194032 S 1 0 1 TP63 NA18507 esv2289340 3 191079127 191079563 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538950 S 1 0 1 TP63 NA18507 nsv878093 3 191079549 191240792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548732 S 6533 1 0 LEPREL1,TP63 MS17878 nsv819655 3 191095295 191095424 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418992 S 2 1 0 TP63 AK1 nsv820136 3 191198273 191202469 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419611 S 2 0 1 LEPREL1 AK1 nsv527677 3 191215300 191221750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704152 S 2026 0 1 LEPREL1 esv2483637 3 191218857 191223085 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291386 S 1 0 1 LEPREL1 NA18507 nsv10368 3 191219283 191223726 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12059,nssv13140,nssv12312,nssv11467,nssv29112,nssv12327,nssv29179,nssv11679,nssv29147,nssv12374,nssv12638,nssv11486,nssv11674,nssv13163,nssv29069,nssv11477,nssv11821,nssv12493,nssv28808 M 31 14 5 Samples from several populations that are part of the HapMap project. LEPREL1 NA07029,NA10839,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18853,NA18942,NA18972,NA19007,NA19132,NA19173,NA19221,NA19240 esv2630337 3 191219309 191223781 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278421 S 1 0 1 LEPREL1 NA18507 nsv821335 3 191219833 191224238 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420361 S 1 0 1 LEPREL1 NA10851 nsv822375 3 191219833 191224238 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424116,nssv1435800,nssv1431988,nssv1425185,nssv1421625,nssv1438744,nssv1434349,nssv1436521,nssv1422526,nssv1428195,nssv1430505,nssv1440281,nssv1426571,nssv1425675,nssv1433578 M 31 0 15 LEPREL1 AK10,AK16,AK20,AK4,AK6,NA18526,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18968,NA18973,NA18997 esv2002247 3 191219837 191223373 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688294 S 1 0 1 LEPREL1 NA18507 esv22891 3 191219955 191223268 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21297 S 451 24 7 LEPREL1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12239,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 nsv514192 3 191219968 191223088 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627629 S 1414 0 1 LEPREL1 nsv822377 3 191219993 191223230 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435009,nssv1425669,nssv1439173 M 31 3 0 LEPREL1 NA18547,NA18942,NA18947 nsv819981 3 191220014 191223388 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419532 S 2 1 0 LEPREL1 AK1 dgv845n67 3 191220024 191223230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822378,nsv822379 M 31 0 6 LEPREL1 AK12,AK14,AK8,NA18537,NA18592,NA18969 esv6476 3 191220047 191223221 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28917 S 1 0 1 LEPREL1 SJK nsv437903 3 191220048 191222323 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467912,nssv467915,nssv467918,nssv467902,nssv467896,nssv467913,nssv467895,nssv467911,nssv467906,nssv467904,nssv467901,nssv467910,nssv467898,nssv467899,nssv467907,nssv467916,nssv467914,nssv467909,nssv467905,nssv467894,nssv467903,nssv467900,nssv467917 M 269 0 23 Samples from several populations that are part of the HapMap project. LEPREL1 NA18524,NA18537,NA18563,NA18579,NA18592,NA18611,NA18620,NA18623,NA18624,NA18633,NA18857,NA18858,NA18913,NA18914,NA18953,NA18969,NA18976,NA18991,NA19000,NA19127,NA19132,NA19205,NA19240 esv33775 3 191220062 191223715 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101453,essv101145,essv96770,essv101032,essv94018,essv94403,essv97834,essv95610,essv95396,essv97312,essv95875,essv92838,essv92799,essv93755,essv96212,essv96680,essv99678,essv94874,essv92509,essv97977,essv97747,essv100611,essv96398,essv94298 M 51 0 24 LEPREL1 21603,21618,21659,21693,21802,21808,21837,21841,21872,21879,21911,21939,21944,21972,22007,22011,22217,22231,22233,22259,22278,22298,22371,22394 esv2421763 3 191220845 191227315 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5072639,essv5055170,essv5076521,essv5037087,essv5095776,essv5019548,essv5064590,essv5008933,essv5085763,essv5063230,essv5056976,essv5153646,essv5090006,essv5074447,essv5139261,essv5079235,essv5073381,essv5046542,essv5006461,essv5062585,essv5041491,essv5065996,essv5122767,essv5017539,essv5046565,essv5019952,essv5062113,essv5107424,essv5011828,essv5097956,essv5138113,essv5035091,essv5155278,essv5089432,essv5121877,essv5156775,essv5131457,essv5135447,essv5109794,essv5106206,essv5116071,essv5029361,essv5049169,essv5150878,essv5035565,essv5012144,essv5101750,essv5128718,essv5127968,essv5061998,essv5024152,essv5159679,essv5142417,essv5122492,essv5037199,essv5054838,essv5083390,essv5086722,essv5044681,essv5069121,essv5049408,essv5068565,essv5041624,essv5160568,essv5063958,essv5113919,essv5091421,essv5033767,essv5109184,essv5031973,essv5117541,essv5103552,essv5153615,essv5068748,essv5099294,essv5130637,essv5062316,essv5026078,essv5037101,essv5157377,essv5078111,essv5159596,essv5089041,essv5031790,essv5033486,essv5056226,essv5155737,essv5015422,essv5013993,essv5034001,essv5026637,essv5023567,essv5048238,essv5027366,essv5003642,essv5053775,essv5066738,essv5128558,essv5132553,essv5041354,essv5058751,essv5097933,essv5098937,essv5122925,essv5027376,essv5103480,essv5029382,essv5052959,essv5157888,essv5083592,essv5066086,essv5008968,essv5142325,essv5097740,essv5075106,essv5050408,essv5020077,essv5149376,essv5144439,essv5099615,essv5112731,essv5088759,essv5148095,essv5035059,essv5025144,essv5135124,essv5007149,essv5012356,essv5138043,essv5130210,essv5117813,essv5067988,essv5135827,essv5144115,essv5085953,essv5123425,essv5088638,essv5013824,essv5058354,essv5127215,essv5158604,essv5058792,essv5092992,essv5132838,essv5030782,essv5069502,essv5053210,essv5085472,essv5131556,essv5052153,essv5055066,essv5051044,essv5095212,essv5005465,essv5033139,essv5001902,essv5041648,essv5050157,essv5071523,essv5043110,essv5035471,essv5121629,essv5110018,essv5018196,essv5019264,essv5133704,essv5002842,essv5042578,essv5025797,essv5131830,essv5105309,essv5088631,essv5075126,essv5043589,essv5148025,essv5052820,essv5010178,essv5087912,essv5150302,essv5029001,essv5026450,essv5076820,essv5128326,essv5084342,essv5002040,essv5142401,essv5046248,essv5035535,essv5089297,essv5101850,essv5079016,essv5064259,essv5041770,essv5034600,essv5048199,essv5044958,essv5037604,essv5042388,essv5025380,essv5094081,essv5159660,essv5040254,essv5111659,essv5068211,essv5054338,essv5145971,essv5038237,essv5018044,essv5068030,essv5090430,essv5124079,essv5119107,essv5008885,essv5037922,essv5091101,essv5111096,essv5144034,essv5088613,essv5159409,essv5034545,essv5034647,essv5020996,essv5121498,essv5110789,essv5135578,essv5156720,essv5079090,essv5113133,essv5004884,essv5101163,essv5055962,essv5037144,essv5052682,essv5034068,essv5023013,essv5006934,essv5015802,essv5011153,essv5018887,essv5109830,essv5087570,essv5123243,essv5091478,essv5150029,essv5138343,essv5129233,essv5029337,essv5124478,essv5157559,essv5051468,essv5054968,essv5138074,essv5074887,essv5004791,essv5108099,essv5041966,essv5094584,essv5024852,essv5083712,essv5058254,essv5096852,essv5105794,essv5014290,essv5052246,essv5025070,essv5063690,essv5084977,essv5014067,essv5112299,essv5008957,essv5029192,essv5005868,essv5124621,essv5097653,essv5107647,essv5002278,essv5113410,essv5103812,essv5087461,essv5018571,essv5052857,essv5083354,essv5099672,essv5148220,essv5119033,essv5120101,essv5051210,essv5134984,essv5066600,essv5106911,essv5143035,essv5039233,essv5003496,essv5107490,essv5030655,essv5031751,essv5020308,essv5158271,essv5134091,essv5050610,essv5110762,essv5025049,essv5015826,essv5035921,essv5023922,essv5075279,essv5151631,essv5094268,essv5096934,essv5067822,essv5030779,essv5153118,essv5134284,essv5042466,essv5152009,essv5067083,essv5061961,essv5161162,essv5036909,essv5090592,essv5112888,essv5021006,essv5140906,essv5081895,essv5007615,essv5046771,essv5109656,essv5088717,essv5095263,essv5075981,essv5054634,essv5141302,essv5013004,essv5008210,essv5062676,essv5118465,essv5134338,essv5066706,essv5107419,essv5020376,essv5116450,essv5023369,essv5008220,essv5089455,essv5015567,essv5017299,essv5130242,essv5008045,essv5076395,essv5066705,essv5082571,essv5082510,essv5136475,essv5129910,essv5072407,essv5036810,essv5151916,essv5008029,essv5099474,essv5029270,essv5113988,essv5058574,essv5146877,essv5037864,essv5115666,essv5115415,essv5150554,essv5132641,essv5051662,essv5039283,essv5014150,essv5128079,essv5134247,essv5125228,essv5032330,essv5124912,essv5039652,essv5143327,essv5122896,essv5110695,essv5160756,essv5126022,essv5053655,essv5088306,essv5077391,essv5039715,essv5104527,essv5157134,essv5136040,essv5063577,essv5091158,essv5093515,essv5018485,essv5069354,essv5092305,essv5142799,essv5081949,essv5074509,essv5139066,essv5038567,essv5074490,essv5104520,essv5015651,essv5073210,essv5146660,essv5157500,essv5099241,essv5032054,essv5041250,essv5148305,essv5119179,essv5013626,essv5114549,essv5033712,essv5126405,essv5043923,essv5150459,essv5065058,essv5034615,essv5156777,essv5011986,essv5056590,essv5076057,essv5042590,essv5103130,essv5095577,essv5158381,essv5123490,essv5046984,essv5050283,essv5104085,essv5106507,essv5150569,essv5070599,essv5029411,essv5105070,essv5150751,essv5138833,essv5157943,essv5033232,essv5094574,essv5023926,essv5107054,essv5087113,essv5136867,essv5007671,essv5152511,essv5037551,essv5128245,essv5034272,essv5154931,essv5019238,essv5017653,essv5129250,essv5052724,essv5153459,essv5080042,essv5037285,essv5101655,essv5116592,essv5076901,essv5138700,essv5042873,essv5158214,essv5025170,essv5042167,essv5024840,essv5080520,essv5059481,essv5042479,essv5063318,essv5121149,essv5131622,essv5103075,essv5131585,essv5001947,essv5023350,essv5121676,essv5002571,essv5134550,essv5145328,essv5134779,essv5026922,essv5033487,essv5157593,essv5147913,essv5156646,essv5096050,essv5015870,essv5127380,essv5138341,essv5101799,essv5140287,essv5047254,essv5042405,essv5097540,essv5074718,essv5036256,essv5137648,essv5026846,essv5081022,essv5005898,essv5078294,essv5150485,essv5061526,essv5116002,essv5109741,essv5096208,essv5082710,essv5108947,essv5050359,essv5028446,essv5116597,essv5031264,essv5005302,essv5107835,essv5100202,essv5106030,essv5024338,essv5007766,essv5125777,essv5125000,essv5041404,essv5016704,essv5034772,essv5011230,essv5054502,essv5110283,essv5132772,essv5139582,essv5148777,essv5132798,essv5036093,essv5023257,essv5159937,essv5069075,essv5155806,essv5066147,essv5160339,essv5117210,essv5018483,essv5026939,essv5077884,essv5092666 M 1184 0 544 LEPREL1 NA06993,NA06997,NA07014,NA07022,NA07031,NA07045,NA07051,NA07347,NA07348,NA07349,NA07357,NA10837,NA10838,NA10839,NA10845,NA10846,NA10847,NA10853,NA10856,NA10861,NA10863,NA10864,NA11829,NA11831,NA11840,NA11891,NA11893,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11995,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12144,NA12145,NA12146,NA12154,NA12156,NA12234,NA12249,NA12273,NA12287,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12383,NA12386,NA12399,NA12413,NA12708,NA12716,NA12748,NA12752,NA12760,NA12766,NA12776,NA12801,NA12802,NA12812,NA12813,NA12814,NA12818,NA12828,NA12829,NA12830,NA12843,NA12864,NA12873,NA12875,NA12878,NA12891,NA12892,NA17965,NA17967,NA17968,NA17969,NA17972,NA17974,NA17975,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17997,NA17999,NA18101,NA18102,NA18105,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18128,NA18129,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18140,NA18143,NA18144,NA18146,NA18148,NA18149,NA18151,NA18152,NA18153,NA18155,NA18158,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18489,NA18507,NA18509,NA18518,NA18519,NA18524,NA18526,NA18529,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18557,NA18559,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18615,NA18616,NA18618,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18635,NA18636,NA18638,NA18639,NA18641,NA18643,NA18645,NA18670,NA18674,NA18682,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18852,NA18855,NA18857,NA18858,NA18860,NA18862,NA18863,NA18871,NA18872,NA18874,NA18875,NA18910,NA18912,NA18913,NA18914,NA18923,NA18934,NA18939,NA18940,NA18943,NA18944,NA18952,NA18953,NA18955,NA18956,NA18957,NA18961,NA18962,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18973,NA18975,NA18976,NA18978,NA18980,NA18990,NA18991,NA18993,NA18994,NA18997,NA18998,NA19000,NA19002,NA19009,NA19010,NA19027,NA19054,NA19055,NA19056,NA19060,NA19063,NA19067,NA19068,NA19070,NA19072,NA19075,NA19077,NA19080,NA19083,NA19084,NA19087,NA19088,NA19094,NA19116,NA19118,NA19121,NA19123,NA19127,NA19129,NA19130,NA19131,NA19132,NA19144,NA19152,NA19159,NA19161,NA19174,NA19176,NA19181,NA19184,NA19192,NA19193,NA19194,NA19197,NA19199,NA19203,NA19204,NA19209,NA19211,NA19214,NA19215,NA19222,NA19223,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19248,NA19257,NA19258,NA19307,NA19308,NA19309,NA19311,NA19314,NA19315,NA19316,NA19317,NA19321,NA19324,NA19328,NA19332,NA19359,NA19360,NA19372,NA19375,NA19381,NA19384,NA19390,NA19391,NA19396,NA19398,NA19435,NA19437,NA19440,NA19444,NA19455,NA19457,NA19469,NA19470,NA19654,NA19656,NA19658,NA19659,NA19664,NA19681,NA19700,NA19702,NA19712,NA19719,NA19722,NA19724,NA19746,NA19747,NA19748,NA19750,NA19751,NA19756,NA19757,NA19770,NA19771,NA19772,NA19773,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19788,NA19789,NA19819,NA19828,NA19909,NA19916,NA19918,NA19982,NA19983,NA20126,NA20128,NA20276,NA20281,NA20287,NA20289,NA20290,NA20297,NA20301,NA20302,NA20332,NA20333,NA20336,NA20337,NA20341,NA20346,NA20348,NA20356,NA20357,NA20358,NA20360,NA20502,NA20505,NA20508,NA20512,NA20515,NA20516,NA20519,NA20522,NA20528,NA20529,NA20530,NA20534,NA20539,NA20541,NA20542,NA20543,NA20582,NA20753,NA20754,NA20755,NA20757,NA20761,NA20765,NA20768,NA20769,NA20770,NA20771,NA20773,NA20778,NA20785,NA20790,NA20792,NA20799,NA20800,NA20801,NA20803,NA20804,NA20807,NA20809,NA20812,NA20815,NA20816,NA20819,NA20845,NA20847,NA20851,NA20852,NA20854,NA20856,NA20858,NA20861,NA20869,NA20870,NA20871,NA20873,NA20875,NA20876,NA20881,NA20883,NA20884,NA20888,NA20889,NA20891,NA20892,NA20894,NA20895,NA20897,NA20898,NA20899,NA20901,NA20902,NA20903,NA20907,NA20909,NA20911,NA21089,NA21090,NA21091,NA21092,NA21099,NA21100,NA21101,NA21103,NA21104,NA21106,NA21107,NA21108,NA21111,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21125,NA21142,NA21143,NA21301,NA21302,NA21303,NA21308,NA21309,NA21313,NA21336,NA21339,NA21344,NA21356,NA21362,NA21363,NA21379,NA21391,NA21399,NA21451,NA21479,NA21485,NA21487,NA21491,NA21524,NA21529,NA21580,NA21583,NA21596,NA21611,NA21614,NA21616,NA21648,NA21685,NA21686,NA21733,NA21739,NA21784,NA21826 nsv517071 3 191220889 191221750 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670141,nssv684403,nssv691656,nssv692216,nssv663580,nssv660474,nssv672472,nssv682297,nssv655334,nssv691700,nssv690534,nssv676554,nssv693836,nssv692900,nssv692495,nssv690136,nssv692690,nssv675606,nssv669690,nssv675835,nssv654159,nssv687988,nssv675390,nssv687367,nssv679973,nssv656403,nssv681805,nssv684263,nssv691775,nssv678556,nssv665952,nssv659131,nssv658742,nssv662110,nssv677478,nssv677900,nssv674202,nssv653729,nssv666594,nssv667268,nssv668907,nssv669777,nssv693804,nssv655865,nssv672497,nssv673927,nssv678759,nssv654011,nssv664877,nssv690895,nssv670561,nssv660385,nssv685145,nssv689555,nssv672447,nssv657368,nssv679064,nssv654576,nssv686141,nssv667505,nssv679301,nssv654705,nssv663627,nssv662658,nssv687670,nssv670589,nssv662279,nssv685339,nssv658980,nssv677818,nssv683144,nssv665248,nssv683365,nssv662386,nssv685761,nssv667053,nssv664613,nssv674641,nssv665769,nssv688399,nssv688427,nssv679341,nssv678677,nssv655242,nssv678494,nssv681409,nssv688108,nssv654078,nssv684490,nssv693606,nssv676695,nssv658332,nssv654449,nssv687742,nssv672708,nssv679116,nssv686980,nssv676300,nssv661189,nssv655266,nssv670939,nssv682332,nssv669306,nssv674495,nssv668134,nssv685122,nssv672018,nssv664687,nssv655644,nssv685983,nssv656124,nssv681699,nssv653246,nssv677853,nssv669626,nssv656237,nssv651989,nssv665291,nssv664435,nssv667640,nssv659919,nssv691460,nssv661721 M 2026 2 121 LEPREL1 nsv527011 3 191220889 191227315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703386 S 2026 0 1 LEPREL1 esv32747 3 191227799 191228219 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97780 S 51 1 0 LEPREL1 22278 esv1001571 3 191229152 191229152 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570911 S 3 1 0 LEPREL1 HuRef esv27411 3 191322692 191323671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10995 S 451 0 2 LEPREL1 NA19190,NA19225 nsv525254 3 191338437 191341817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701349 S 2026 0 1 "" nsv524837 3 191386012 191392766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700839 S 2026 0 1 "" nsv237227 3 191438103 191438403 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255805 M 24 "" esv9623 3 191438116 191438403 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32064 S 1 0 1 "" SJK esv993841 3 191440402 191443361 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564673 S 3 1 0 "" HuRef esv1020660 3 191442073 191442073 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738999 S 2 1 0 "" HuRef esv273898 3 191457160 191457445 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580676,essv2579343,essv2579583 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268289 3 191500785 191501124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2550113,essv2558786,essv2527119,essv2543466,essv2562421,essv2575547,essv2575251,essv2538714,essv2574707,essv2572838,essv2549782 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18516,NA18522,NA18870,NA18909,NA19099,NA19102,NA19108,NA19138,NA19143,NA19225 esv275459 3 191537856 191546908 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585700,essv2585276 M 1250 1 1 "" nsv829820 3 191579964 191745029 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443293 S 95 1 0 CLDN16,IL1RAP,TMEM207 nsv516391 3 191585682 191591150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699359,nssv688072,nssv667996,nssv684509 M 2026 0 4 CLDN16 esv2000222 3 191601537 191601977 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841558 S 1 0 1 CLDN16 NA18507 esv991712 3 191601727 191601792 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567825 S 3 0 1 CLDN16 HuRef esv1364454 3 191674043 191674043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752859 S 2 1 0 "" HuRef esv4944 3 191720580 191723255 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27385 S 1 0 1 Single Asian sample YH IL1RAP YH esv2440806 3 191772719 191774191 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170840 S 1 0 1 IL1RAP NA18507 esv1980229 3 191773150 191773802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4961972 S 1 0 1 IL1RAP NA18507 esv4162 3 191773280 191773814 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26603 S 1 0 1 Single Asian sample YH IL1RAP YH esv1000745 3 191773333 191773629 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577280 S 3 0 1 IL1RAP HuRef dgv131n6 3 191773334 191773641 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv238104,nsv237432 M 24 IL1RAP esv1433093 3 191773344 191773641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800022 S 2 0 1 IL1RAP HuRef esv259970 3 191822224 191822527 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397637,essv2394984 M 144 0 0 Samples from several populations that are part of the HapMap project. IL1RAP NA18502,NA18511 esv34194 3 191836948 192071046 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GMNC,IL1RAP esv6677 3 191842447 191842509 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29118 S 1 1 0 IL1RAP SJK nsv878094 3 191843709 191938120 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548733 S 6533 1 0 IL1RAP MS17878 nsv4168 3 191870420 191903723 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7907 S 9 1 0 "" NA12156 nsv829821 3 191878096 192030528 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443294,nssv1443297 M 95 1 1 "" esv1555556 3 191948747 191948805 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626435 S 2 0 1 "" HuRef esv2430797 3 191951172 191952473 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372647 S 1 0 1 "" NA18507 esv2318729 3 191951585 191952009 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770305 S 1 0 1 "" NA18507 nsv507145 3 191952992 191958992 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621735 S 4 1 0 "" NA10860 esv2405501 3 191960966 191961524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568777 S 1 0 1 "" NA18507 esv4516 3 191961121 191961420 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26957 S 1 0 1 Single Asian sample YH "" YH nsv237053 3 191961153 191961328 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255631 M 24 "" nsv822380 3 191994152 191995156 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440993 S 31 0 1 "" NA18969 esv25084 3 191994839 192003718 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21027,esv14839 M 451 1 1 "" NA07037,NA19108 nsv237437 3 191996138 191996138 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256015 M 24 "" nsv818198 3 192002019 192009798 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416146 S 112 1 0 "" NA12892 nsv236956 3 192013658 192013658 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255534 M 24 "" esv1009932 3 192013701 192013701 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574334 S 3 1 0 "" HuRef dgv5359n71 3 192068875 192158650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878095,nsv878096 M 6533 0 2 SNAR-I IS30292,MS21738 nsv878097 3 192080017 192132745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505035 S 6533 0 1 "" SP53041 nsv878098 3 192139857 192171941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515172,nssv1515332 M 6533 0 2 "" SP56132,SP56172 esv2192071 3 192152293 192153014 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911187 S 1 0 1 "" NA18507 esv1651513 3 192152501 192152824 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271470 S 2 0 1 "" HuRef esv21979 3 192171945 192172875 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19762 S 451 0 1 "" NA12006 nsv528581 3 192197192 192205117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705200 S 2026 0 1 "" esv2342821 3 192208096 192208561 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849792 S 1 0 1 "" NA18507 nsv516600 3 192266001 192269153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669479,nssv669648,nssv685169,nssv662736,nssv691233,nssv675581,nssv687010,nssv654863 M 2026 0 8 "" esv29276 3 192269689 192270632 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17704 S 451 0 4 "" NA18907,NA19114,NA19240,NA19257 esv1241920 3 192293246 192293246 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737991 S 2 1 0 "" HuRef nsv878099 3 192301150 192384394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513228 S 6533 0 1 "" SP55698 esv2610679 3 192315892 192316763 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276331 S 1 0 0 "" NA18507 essv7531 3 192349705 192500450 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. OSTN,UTS2D NA18545 dgv1544e1 3 192349705 192761801 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8839,essv24847,essv882,essv5341,essv1209,essv11632,essv3395,essv21196,essv1824,essv10004,essv5291,essv12234,essv15147,essv15559,essv3866,essv18088,essv8134,essv18452,essv17032,essv409,essv20055,esv220,essv9360,essv23903,essv6306,essv2998,essv21372,essv9699,essv17141,essv5484,essv18728,essv18960,essv20329,essv20432,essv17563 M 271 0 0 CCDC50,OSTN,PYDC2,UTS2D NA07000,NA07048,NA10830,NA11830,NA11831,NA12005,NA12145,NA12236,NA12740,NA12762,NA12814,NA12874,NA18508,NA18563,NA18609,NA18624,NA18632,NA18853,NA18913,NA18945,NA18951,NA18971,NA18976,NA18981,NA18994,NA19000,NA19099,NA19101,NA19129,NA19137,NA19144,NA19154,NA19171,NA19206 dgv5360n71 3 192359805 192461209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878100,nsv878103 M 6533 0 2 OSTN IS31703,IS38263 nsv878101 3 192374633 192542016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548452 S 6533 0 1 CCDC50,OSTN,UTS2D MS17852 nsv878102 3 192377808 192428327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509452 S 6533 0 1 OSTN SP54792 nsv878104 3 192398545 192461209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581970 S 6533 0 1 OSTN IS35771 nsv428428 3 192419528 192698290 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454303,nssv454302 M 62 2 0 CCDC50,OSTN,PYDC2,UTS2D NA18498,NA19096 nsv509873 3 192466431 192472431 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621221,nssv618595,nssv622039 M 4 0 3 UTS2D CHM,NA10860,NA15510 esv7437 3 192469056 192469109 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29878 S 1 1 0 UTS2D SJK nsv10369 3 192477468 192494141 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13170 S 31 0 1 Samples from several populations that are part of the HapMap project. UTS2D NA19221 esv268474 3 192482127 192482456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558093,essv2565708,essv2540979,essv2546456,essv2521146,essv2526244,essv2542493,essv2536591,essv2522984,essv2544180,essv2570886,essv2556583,essv2568172,essv2545595,essv2531759,essv2577342,essv2570430,essv2521654,essv2576613,essv2550841,essv2525338,essv2535273,essv2554094,essv2552109,essv2520711,essv2547323,essv2529101,essv2558541,essv2564411,essv2577852,essv2553846,essv2559699,essv2565355,essv2520190,essv2555053,essv2530638,essv2561743,essv2537615,essv2547085,essv2532394,essv2569349,essv2569670,essv2561421,essv2523644,essv2540643,essv2524325,essv2561204,essv2539709,essv2549359,essv2559822,essv2522113,essv2566069,essv2530898,essv2532864,essv2568001,essv2528903,essv2570088,essv2553287,essv2535639,essv2572405,essv2566882,essv2569067,essv2543452,essv2527842,essv2539369,essv2578484,essv2533577,essv2529853,essv2574000,essv2527662,essv2534439,essv2522572,essv2531395,essv2543075,essv2577162,essv2572016,essv2527004,essv2575469,essv2538522,essv2524216,essv2572637,essv2571134,essv2545812,essv2574351,essv2551630,essv2536343,essv2549034,essv2554413,essv2563539 M 157 89 0 Samples from several populations that are part of the HapMap project. UTS2D NA06986,NA07037,NA07346,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12892,NA18505,NA18508,NA18520,NA18523,NA18537,NA18552,NA18555,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18608,NA18609,NA18853,NA18861,NA18870,NA18907,NA18912,NA18940,NA18944,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18965,NA18970,NA18973,NA19005,NA19099,NA19108,NA19129,NA19143,NA19238,NA19239,NA19240,NA19257 esv272727 3 192482131 192482458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581696,essv2583070,essv2584296,essv2584579,essv2583578 M 7 5 0 Samples from several populations that are part of the HapMap project. UTS2D NA12878,NA12892,NA19238,NA19239,NA19240 esv26911 3 192493924 192496335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12440 S 451 0 2 UTS2D NA19225,NA19257 nsv4169 3 192518992 192546159 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7908 S 9 0 1 CCDC50,UTS2D NA12156 nsv10370 3 192528917 192532254 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11507 S 31 0 1 Samples from several populations that are part of the HapMap project. CCDC50,UTS2D NA18563 esv271516 3 192532914 192532999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515002 S 157 1 0 Samples from several populations that are part of the HapMap project. CCDC50 NA12812 dgv632n27 3 192542016 192555922 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461055,nsv461054,nsv461051,nsv461049,nsv461052,nsv461053 M 1557 0 6 CCDC50 HGDP00140,HGDP00191,HGDP00469,HGDP00898,HGDP01147,NINDS_232 nsv461056 3 192543908 192555922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537506 S 1557 1 0 CCDC50 NINDS_50 nsv878105 3 192543908 192555922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591553 S 6533 0 1 CCDC50 IS38987 nsv516440 3 192543908 192556400 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655453,nssv681487,nssv678733,nssv658580,nssv678813,nssv660654,nssv682733,nssv662659,nssv683808,nssv656463,nssv687368,nssv663325,nssv658640,nssv692521,nssv683438,nssv663028,nssv679783,nssv656125,nssv679902,nssv661447,nssv673112,nssv673950,nssv658303,nssv663378,nssv668792,nssv677698,nssv693140,nssv686295,nssv670658,nssv671572,nssv674127,nssv680435,nssv662631,nssv678245,nssv690998,nssv677266,nssv691946,nssv686468,nssv686206,nssv659037,nssv692331,nssv704296,nssv673056,nssv693244,nssv652920,nssv680471,nssv664111,nssv653452,nssv688109,nssv670940,nssv680048,nssv659382,nssv658660,nssv683027,nssv673145,nssv678350,nssv663783,nssv660309,nssv691119,nssv652202,nssv691163,nssv654260,nssv691572,nssv697757,nssv686918,nssv676448,nssv653488,nssv662471,nssv661125,nssv683005,nssv668926,nssv687941,nssv693534,nssv667660,nssv679679,nssv668276,nssv656860,nssv671830,nssv658504,nssv691029,nssv675063,nssv685647,nssv690590,nssv686036,nssv679595,nssv652073,nssv691834,nssv679544,nssv658259,nssv666422,nssv663562,nssv686071,nssv659635,nssv683726,nssv655408,nssv672114,nssv659305,nssv668992,nssv664674,nssv671237,nssv693576,nssv672681,nssv660400,nssv654244,nssv680231,nssv665292,nssv666762,nssv685146,nssv675200,nssv668760,nssv679128,nssv692006,nssv681914,nssv675836,nssv659667,nssv678173,nssv691048,nssv686026,nssv680128,nssv657503,nssv677197,nssv674056,nssv661657,nssv662206,nssv652022,nssv665068,nssv675231,nssv653705,nssv658529,nssv680019,nssv684320,nssv691701,nssv674280,nssv694020,nssv652695,nssv659019,nssv658996,nssv677246,nssv672772,nssv680246,nssv679005,nssv664474,nssv663488,nssv675875,nssv691067,nssv658805,nssv688011,nssv684120,nssv655972,nssv673571,nssv683931,nssv660199,nssv672571,nssv677949,nssv672473,nssv690346,nssv691426,nssv674542,nssv651715,nssv668017,nssv674722,nssv669038,nssv665151,nssv660997,nssv673684,nssv665712,nssv674836,nssv666829,nssv687430,nssv675582,nssv679626,nssv689941,nssv676796,nssv653143,nssv664530,nssv687754,nssv667799,nssv662432,nssv692612,nssv675073,nssv678225,nssv660035,nssv691776,nssv659920,nssv668638,nssv687116,nssv681742,nssv667030,nssv662233,nssv670562,nssv670011,nssv681224,nssv658857,nssv671209,nssv653098,nssv663950,nssv664579,nssv685123,nssv686424,nssv689362,nssv675414,nssv654136,nssv652312,nssv661809,nssv678516,nssv659782,nssv651848,nssv678371,nssv673068,nssv661569,nssv675378,nssv675547,nssv667641,nssv689679,nssv673451,nssv669137,nssv681838,nssv666022,nssv667602,nssv679763,nssv661496,nssv666263,nssv659902,nssv653163,nssv686403,nssv690740,nssv684104,nssv677218,nssv655528,nssv684510,nssv690896,nssv678100,nssv690703,nssv688746,nssv666720,nssv675127,nssv660412,nssv654812,nssv658753,nssv656477,nssv653683,nssv653312,nssv668335,nssv652368,nssv676522,nssv674203,nssv664370,nssv673129,nssv690870,nssv665932,nssv689183,nssv676388,nssv677793,nssv686360,nssv657745,nssv671431,nssv689098,nssv682419,nssv661766,nssv688369,nssv687350,nssv692554,nssv663654,nssv688618,nssv679154,nssv685993,nssv684011,nssv657668,nssv670366,nssv682048,nssv678699,nssv681806,nssv666179,nssv686663,nssv676811,nssv675348,nssv693607,nssv663860,nssv671661,nssv659806,nssv682298,nssv655668,nssv671498,nssv660789,nssv656438,nssv651732,nssv658476,nssv693985,nssv678949,nssv670738,nssv668436,nssv657889,nssv687822,nssv672829,nssv689001,nssv693473,nssv684133,nssv669280,nssv684869,nssv678379,nssv655887,nssv691507,nssv674954,nssv688191,nssv673656,nssv687966,nssv684183,nssv652902,nssv670287,nssv679053,nssv688162,nssv675642,nssv652965,nssv661190,nssv692654,nssv692597,nssv653666,nssv655267,nssv663927,nssv668977,nssv689981,nssv676238,nssv677986,nssv687382,nssv679174,nssv670822,nssv666324,nssv656075,nssv671750,nssv675448,nssv655717,nssv683563,nssv692901,nssv652537,nssv661783,nssv655611,nssv672950,nssv681063,nssv687871,nssv687011,nssv655429,nssv673639,nssv655217,nssv662539,nssv671589,nssv668411,nssv684491,nssv672709,nssv688527,nssv693995,nssv678760,nssv672056,nssv673485,nssv666595,nssv656732,nssv681581,nssv686603,nssv689556,nssv671107,nssv663426,nssv668211,nssv681941,nssv674001,nssv680518,nssv682153,nssv679302,nssv691082,nssv681360,nssv655310,nssv675337,nssv654118,nssv677598,nssv682628,nssv687799,nssv659226,nssv669889,nssv684264,nssv682782,nssv663628,nssv682848,nssv691587,nssv666630,nssv666300,nssv655774,nssv684211,nssv658624,nssv687766,nssv652119,nssv691253,nssv688687,nssv673167,nssv664359,nssv686683,nssv678329,nssv656099,nssv685540,nssv653750,nssv689873,nssv679088,nssv653436,nssv666653,nssv670453,nssv662862,nssv666287,nssv687671,nssv662737,nssv657938,nssv660132,nssv679202,nssv686264,nssv675705,nssv678575,nssv662054,nssv680618,nssv693263,nssv655562,nssv678400,nssv661610,nssv665781,nssv675607,nssv679235,nssv664711,nssv690511,nssv688384,nssv657399,nssv665454,nssv693151,nssv653084,nssv668107,nssv657595,nssv672510,nssv676911,nssv681928,nssv653373,nssv658951,nssv693339,nssv676533,nssv665044,nssv659506,nssv679981,nssv679924,nssv682381,nssv662716,nssv685584,nssv689811,nssv674610,nssv660491,nssv678479,nssv683750,nssv677066,nssv662700,nssv683544,nssv686109,nssv680351,nssv684974,nssv688309,nssv687032,nssv664509,nssv684167,nssv680214,nssv660161,nssv692065,nssv652562,nssv683784,nssv656167,nssv662564,nssv659053,nssv667384,nssv684080,nssv676696,nssv661474,nssv667126,nssv664184,nssv677964,nssv687054,nssv671920,nssv682828,nssv658023,nssv667625,nssv692786,nssv658743,nssv687913,nssv663363,nssv688453,nssv670272,nssv669535,nssv683998,nssv660939,nssv673224,nssv674818,nssv687072,nssv685604,nssv689463,nssv676015,nssv674388,nssv681601,nssv678032,nssv659132,nssv655791,nssv659276,nssv689860,nssv678076,nssv654630,nssv677171,nssv692406,nssv654360,nssv692453,nssv670029,nssv659876,nssv656216,nssv671324,nssv668833,nssv680154,nssv654450,nssv682064,nssv665100,nssv675772,nssv672288,nssv660977,nssv653958,nssv655476,nssv659967,nssv693723,nssv660185,nssv658287,nssv681310,nssv659596,nssv670758,nssv687989,nssv657639,nssv682086,nssv688842,nssv654762,nssv656404,nssv675527,nssv666370,nssv653622 M 2026 10 527 CCDC50 dgv79n17 3 192546437 192555922 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437353,nsv437354 M 60 0 2 CCDC50 NA19161,NA19194 nsv508266 3 192546906 192566331 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618732 S 4 0 1 CCDC50 NA10860 nsv10371 3 192546942 192554528 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12404,nssv29142,nssv29209,nssv29125,nssv11537,nssv29043,nssv11838,nssv11851,nssv12523,nssv11497,nssv12342,nssv28832,nssv12357,nssv29212,nssv13200,nssv11703,nssv28838,nssv12261,nssv29177,nssv12668,nssv13193,nssv29099,nssv11704,nssv28469,nssv28786,nssv29203,nssv11709,nssv11754,nssv11516 M 31 28 1 Samples from several populations that are part of the HapMap project. CCDC50 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 nsv878106 3 192547222 192564038 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533972 S 6533 0 1 CCDC50 MS11358 nsv435761 3 192547244 192556527 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466052 S 2 0 1 CCDC50 NA15510 dgv114e180 3 192547329 192554343 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999982,esv988126 M 3 1 0 CCDC50 HuRef nsv821209 3 192547335 192554405 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420362 S 1 0 1 CCDC50 NA10851 nsv819154 3 192547346 192554373 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419801 S 2 1 0 CCDC50 AK1 esv24246 3 192547425 192554326 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21125 S 451 24 0 CCDC50 NA06985,NA07037,NA11995,NA12006,NA12239,NA12749,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 dgv633n27 3 192548086 192549938 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461057,nsv461058,nsv461120,nsv461119,nsv461059 M 1557 0 5 CCDC50 1780854185_A,1780854517_A,1780862101_A,1780862206_A,1782681114_A nsv818199 3 192548086 192549938 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418544,nssv1418545 M 112 0 2 CCDC50 NA10830,NA12236 nsv461060 3 192548086 192550982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537510 S 1557 0 1 CCDC50 NINDS_61 dgv634n27 3 192548086 192552678 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461111,nsv461081,nsv461094,nsv461091,nsv461082,nsv461068,nsv461109,nsv461076,nsv461098,nsv461085,nsv461065,nsv461112,nsv461075,nsv461080,nsv461105,nsv461110,nsv461083,nsv461092,nsv461108,nsv461079,nsv461113,nsv461115,nsv461086,nsv461103,nsv461114,nsv461096,nsv461097,nsv461107,nsv461118,nsv461074,nsv461104,nsv461093,nsv461089,nsv461099,nsv461100,nsv461078,nsv461088,nsv461077,nsv461067,nsv461101,nsv461116,nsv461070,nsv461072,nsv461087,nsv461063,nsv461071,nsv461069,nsv461090,nsv461102,nsv461066,nsv461064 M 1557 0 51 CCDC50 1780846322_A,1780854340_A,1780854354_A,1780862071_A,1780862123_A,1780862165_A,1780862334_A,1780862346_A,1780862579_A,1782681275_A,1782681294_A,1782681555_A,1787431166_A,1798860251_A,HGDP00031,HGDP00098,HGDP00124,HGDP00181,HGDP00183,HGDP00185,HGDP00461,HGDP00467,HGDP00512,HGDP00520,HGDP00563,HGDP00564,HGDP00597,HGDP00600,HGDP00676,HGDP00708,HGDP00729,HGDP00794,HGDP00865,HGDP00902,HGDP00927,HGDP00998,HGDP01010,HGDP01013,HGDP01015,HGDP01037,HGDP01043,HGDP01359,HGDP01374,HGDP01404,NINDS_129,NINDS_145,NINDS_189,NINDS_219,NINDS_228,NINDS_5,NINDS_63 esv2421497 3 192548086 192552678 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5160805,essv5114405,essv5044873,essv5024711,essv5060656,essv5119501,essv5124292,essv5074069,essv5138453,essv5068339,essv5159521,essv5150583,essv5019245,essv5005749,essv5078754,essv5095580,essv5105411,essv5147232,essv5113315,essv5106666,essv5124112,essv5015353,essv5095891,essv5117920,essv5065316,essv5028066,essv5146337,essv5077309,essv5012215,essv5106235,essv5081210,essv5077665,essv5042096,essv5009090,essv5160818,essv5068699,essv5029028,essv5015745,essv5072247,essv5055946,essv5024741,essv5153268,essv5137563,essv5151744,essv5078027,essv5028156,essv5073677,essv5026797,essv5039287,essv5081475,essv5006664,essv5030843,essv5085425,essv5158865,essv5114833,essv5068161,essv5153202,essv5079796,essv5022099,essv5082716,essv5043177,essv5160322,essv5039980,essv5096497,essv5012535,essv5057736,essv5065093,essv5041707,essv5115209,essv5157439,essv5083357,essv5060454,essv5002030,essv5018080,essv5059087,essv5138817,essv5115012,essv5099465,essv5018836,essv5138604,essv5011413,essv5132751,essv5032266,essv5129353,essv5121497,essv5002656,essv5023601,essv5061715,essv5064092,essv5124146,essv5115499,essv5096124,essv5033939,essv5077529,essv5035531,essv5035864,essv5160402,essv5077880,essv5136012,essv5156275,essv5148444,essv5104976,essv5012363,essv5026526,essv5112963,essv5106708,essv5126810,essv5041258,essv5100767,essv5045406,essv5016577,essv5048068,essv5094742,essv5096546,essv5008721,essv5083986,essv5059433,essv5045815,essv5071533,essv5112414,essv5130089,essv5131941,essv5048258,essv5100621,essv5072130,essv5052104,essv5033038,essv5096814,essv5133867,essv5127551,essv5122797,essv5050820,essv5066090,essv5090804,essv5115017,essv5096127,essv5131304,essv5091588,essv5138570,essv5006124,essv5030406,essv5131414,essv5094442,essv5087656,essv5005893,essv5151176,essv5029872,essv5088568,essv5080601,essv5068906,essv5151687,essv5131155,essv5040573,essv5107903,essv5072460,essv5045015,essv5012689,essv5112709,essv5004138,essv5071826,essv5066450,essv5078509,essv5122649,essv5063064,essv5105691,essv5065192,essv5123400,essv5116253,essv5032287,essv5125768,essv5004031,essv5027752,essv5039820,essv5071409,essv5022230,essv5050020,essv5088060,essv5139321,essv5113409,essv5054714,essv5008962,essv5011748,essv5120992,essv5003995,essv5039254,essv5011775,essv5006196,essv5084718,essv5114222,essv5078403,essv5156384,essv5154053,essv5127290,essv5115054,essv5095970,essv5044217,essv5047892,essv5061598,essv5083085,essv5092818,essv5132800,essv5100908,essv5036240,essv5036526,essv5159555,essv5019363,essv5007391,essv5109933,essv5087973,essv5134419,essv5012331,essv5007541,essv5100615,essv5090085,essv5113966,essv5112301,essv5109455,essv5112279,essv5136049,essv5067989,essv5128505,essv5063712,essv5149105,essv5156950,essv5089877,essv5061557,essv5065173,essv5114322,essv5142896,essv5040501,essv5019897,essv5016533,essv5156642,essv5043747,essv5003138,essv5100338,essv5041133,essv5011766,essv5009101,essv5139043,essv5063991,essv5078178,essv5013347,essv5030938,essv5095591,essv5128683,essv5002857,essv5086221,essv5069848,essv5112727,essv5073203,essv5109444,essv5035405,essv5124470,essv5119090,essv5030446,essv5142894,essv5047802,essv5003286,essv5131227,essv5053790,essv5094772,essv5098405,essv5019672,essv5013501,essv5003265,essv5085993,essv5066167,essv5051637,essv5059861,essv5078052,essv5118933,essv5103082,essv5013085,essv5128750,essv5039469,essv5046627,essv5101063,essv5020807 M 1184 0 279 CCDC50 NA06993,NA06994,NA06997,NA07022,NA07045,NA07051,NA07346,NA07347,NA07348,NA07349,NA07357,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10846,NA10853,NA10854,NA10855,NA10861,NA10864,NA10865,NA11829,NA11831,NA11839,NA11840,NA11843,NA11881,NA11892,NA11894,NA11917,NA11919,NA11931,NA11993,NA11994,NA12003,NA12043,NA12044,NA12056,NA12144,NA12146,NA12154,NA12156,NA12249,NA12272,NA12273,NA12275,NA12282,NA12287,NA12335,NA12336,NA12341,NA12342,NA12376,NA12400,NA12489,NA12546,NA12707,NA12716,NA12740,NA12748,NA12750,NA12751,NA12760,NA12766,NA12767,NA12776,NA12777,NA12778,NA12801,NA12813,NA12815,NA12827,NA12828,NA12873,NA18500,NA18501,NA18855,NA18857,NA18859,NA18867,NA18868,NA18869,NA18916,NA18930,NA19036,NA19101,NA19103,NA19118,NA19128,NA19141,NA19142,NA19159,NA19161,NA19172,NA19173,NA19174,NA19181,NA19182,NA19189,NA19190,NA19191,NA19193,NA19194,NA19239,NA19309,NA19324,NA19327,NA19332,NA19371,NA19377,NA19394,NA19396,NA19398,NA19399,NA19434,NA19438,NA19439,NA19443,NA19446,NA19449,NA19467,NA19471,NA19651,NA19652,NA19653,NA19657,NA19659,NA19676,NA19684,NA19686,NA19720,NA19722,NA19724,NA19750,NA19759,NA19760,NA19761,NA19771,NA19772,NA19774,NA19775,NA19779,NA19781,NA19783,NA19794,NA19795,NA19796,NA19819,NA19828,NA19914,NA19915,NA20127,NA20128,NA20279,NA20282,NA20284,NA20301,NA20333,NA20334,NA20335,NA20359,NA20360,NA20505,NA20506,NA20509,NA20510,NA20512,NA20516,NA20520,NA20522,NA20524,NA20529,NA20535,NA20540,NA20542,NA20581,NA20586,NA20754,NA20757,NA20759,NA20766,NA20770,NA20771,NA20773,NA20775,NA20778,NA20783,NA20787,NA20795,NA20796,NA20803,NA20804,NA20806,NA20807,NA20812,NA20813,NA20826,NA20828,NA20850,NA20853,NA20870,NA20873,NA20875,NA20882,NA20889,NA20894,NA20901,NA20908,NA20909,NA20910,NA20911,NA21101,NA21109,NA21117,NA21123,NA21143,NA21144,NA21295,NA21307,NA21309,NA21316,NA21320,NA21336,NA21339,NA21352,NA21359,NA21364,NA21367,NA21370,NA21388,NA21391,NA21399,NA21401,NA21402,NA21403,NA21417,NA21418,NA21434,NA21435,NA21436,NA21438,NA21439,NA21447,NA21473,NA21476,NA21486,NA21487,NA21488,NA21491,NA21512,NA21517,NA21521,NA21522,NA21524,NA21575,NA21578,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21614,NA21617,NA21619,NA21647,NA21689,NA21716,NA21719,NA21733,NA21739,NA21740,NA21776,NA21825,NA21826 nsv818201 3 192548086 192552678 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416783,nssv1416537,nssv1417979,nssv1415629,nssv1415943,nssv1416048,nssv1415627,nssv1416333,nssv1416660,nssv1416332,nssv1415628,nssv1416049,nssv1416684,nssv1415941,nssv1415639,nssv1418441,nssv1417980,nssv1415831,nssv1416331,nssv1418543,nssv1416673,nssv1416539,nssv1415832,nssv1418442,nssv1415942 M 112 0 25 CCDC50 NA06993,NA07348,NA07357,NA10835,NA10857,NA10860,NA11993,NA12043,NA12044,NA12154,NA12249,NA12740,NA12750,NA12751,NA12801,NA12813,NA18855,NA18856,NA18857,NA19141,NA19142,NA19172,NA19173,NA19193,NA19194 nsv514193 3 192548128 192552544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627630 S 1414 0 1 CCDC50 nsv818202 3 192548615 192552678 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417012,nssv1417011,nssv1416231,nssv1417013,nssv1416230 M 112 2 3 CCDC50 NA06994,NA07000,NA07029,NA10851,NA12056 nsv818203 3 192549572 192552678 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416716,nssv1416715 M 112 0 2 CCDC50 NA19159,NA19161 nsv437905 3 192549938 192552678 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467922,nssv467920,nssv467921,nssv467923,nssv467924,nssv467925 M 269 0 5 Samples from several populations that are part of the HapMap project. CCDC50 NA19101,NA19159,NA19161,NA19193,NA19194 nsv818204 3 192550982 192552678 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418546 S 112 0 1 CCDC50 NA10830 nsv878107 3 192552678 192582767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527636 S 6533 0 1 CCDC50 SP80914 nsv10373 3 192558719 192560879 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13223 S 31 1 0 Samples from several populations that are part of the HapMap project. CCDC50 NA18972 nsv822381 3 192575575 192576114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431989 S 31 0 1 CCDC50 AK20 esv1000145 3 192590893 192590893 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574914 S 3 1 0 CCDC50 HuRef esv1041065 3 192590894 192590894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335728 S 2 1 0 CCDC50 HuRef nsv878108 3 192657909 192706358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578837 S 6533 0 1 PYDC2 IS34931 nsv878109 3 192661619 192709990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548734 S 6533 1 0 PYDC2 MS17878 nsv525219 3 192671826 192706358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701305 S 2026 0 1 "" nsv509874 3 192725229 192731229 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623930 S 4 0 1 "" NA18994 esv1002056 3 192750006 192757941 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565458 S 3 0 1 "" HuRef dgv80n17 3 192831605 192853795 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437359,nsv436931,nsv437355,nsv437358,nsv437356 M 60 0 5 "" NA07048,NA18515,NA18860,NA18872,NA19139 nsv437360 3 192853795 192875591 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467241 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv461121 3 192878666 192914190 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537569 S 1557 0 1 "" 1780854436_A esv268783 3 192893019 192893371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510566,essv2508783,essv2494562,essv2496072,essv2502724,essv2503941 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA18501,NA18532,NA18550,NA18603,NA18965 nsv521640 3 192914926 192925251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698258 S 2026 0 1 "" nsv461122 3 192982194 193224475 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537570 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00526 esv28083 3 192987334 192990336 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16396 S 451 0 2 "" NA18517,NA19114 nsv521501 3 192995262 193050583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694454 S 2026 0 1 "" nsv878110 3 192995262 193158454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568854 S 6533 0 1 "" IS31369 nsv516379 3 193001167 193026621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667918,nssv663341,nssv678151 M 2026 0 3 "" nsv526670 3 193053357 193060342 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703001 S 2026 1 0 "" esv2628675 3 193063331 193064791 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279262 S 1 0 1 "" NA18507 esv2377953 3 193063535 193064041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520876 S 1 0 1 "" NA18507 esv989413 3 193063602 193063832 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581975 S 3 0 1 "" HuRef nsv878111 3 193063710 193166449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594022 S 6533 0 1 "" IS39666 esv1096572 3 193063748 193063979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109822 S 2 0 1 "" HuRef nsv822382 3 193064868 193067555 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436522 S 31 0 1 "" NA18542 nsv878112 3 193104305 193188653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597225 S 6533 0 1 "" IS40776 nsv517535 3 193127165 193158454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662771,nssv652939,nssv699797,nssv652290,nssv689542,nssv683897 M 2026 0 6 "" nsv878113 3 193188653 193254567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524710 S 6533 0 1 "" SP55179 nsv878114 3 193209292 193280308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548735 S 6533 1 0 "" MS17878 esv27480 3 193243281 193244912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15712 S 451 0 1 "" NA19108 esv269990 3 193264726 193264938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509902 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18508 nsv822383 3 193271211 193271738 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431238 S 31 0 1 "" AK18 nsv238008 3 193271969 193272552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256586 M 24 "" esv270501 3 193281079 193282814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518535 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv2646061 3 193338420 193340047 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361504 S 1 0 1 FGF12 NA18507 esv2175876 3 193338608 193339331 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999161 S 1 0 1 "" NA18507 esv5354 3 193338744 193339253 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27795 S 1 0 1 Single Asian sample YH "" YH esv1011205 3 193338785 193339122 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570083 S 3 0 1 "" HuRef esv1663735 3 193338792 193339130 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143930 S 2 0 1 "" HuRef esv5624 3 193338795 193339120 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28065 S 1 0 1 "" SJK esv1010653 3 193339201 193339989 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563922 S 3 0 1 FGF12 HuRef esv23512 3 193372869 193373937 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12696 S 451 0 1 FGF12 NA12776 nsv4170 3 193381326 193472674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2441 S 9 0 1 FGF12 NA18555 esv275589 3 193395564 193400062 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586078,essv2585333 M 1250 1 1 FGF12 nsv508976 3 193409644 193409644 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620778 S 4 1 0 FGF12 NA15510 nsv247 3 193414719 193431899 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv247 S 1 1 0 FGF12 NA15510 nsv4171 3 193414719 193431899 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11072 S 9 1 0 FGF12 NA15510 dgv5361n71 3 193418774 193471539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878118,nsv878115 M 6533 0 7 FGF12 SP50859,SP51043,SP55630,SP55808,SP56064,SP56089,SP56887 dgv5362n71 3 193418774 193489193 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878119,nsv878116 M 6533 2 0 FGF12 SP55655,SP55765 nsv435755 3 193418976 193473404 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466053 S 2 0 1 FGF12 NA15510 nsv499079 3 193419898 193420029 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586424 S 9 1 0 FGF12 nsv878117 3 193421931 193464166 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503495 S 6533 1 0 FGF12 SP52064 nsv878120 3 193449395 193554896 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548736 S 6533 1 0 FGF12 MS17878 nsv819296 3 193458816 193460024 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419197 S 2 0 1 FGF12 AK1 dgv846n67 3 193471133 193479293 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822385,nsv822386,nsv822384 M 31 4 0 FGF12 AK18,NA18526,NA18582,NA18942 esv24127 3 193471177 193479383 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14477 S 451 1 0 FGF12 NA15510 nsv819527 3 193471387 193479466 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419855 S 2 1 0 FGF12 AK1 esv272002 3 193475700 193475785 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517392 S 157 1 0 Samples from several populations that are part of the HapMap project. FGF12 NA11918 esv270766 3 193528036 193528121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517193 S 157 1 0 Samples from several populations that are part of the HapMap project. FGF12 NA18970 esv2570037 3 193545115 193546778 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240465 S 1 0 1 FGF12 NA18507 esv1987177 3 193545683 193546384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510822 S 1 0 1 FGF12 NA18507 esv3914 3 193545812 193546293 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26355 S 1 0 1 Single Asian sample YH FGF12 YH esv1008599 3 193545878 193546187 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584157 S 3 0 1 FGF12 HuRef esv8590 3 193545888 193546194 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31031 S 1 0 1 FGF12 SJK esv1378514 3 193545888 193546198 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031536 S 2 0 1 FGF12 HuRef dgv1545e1 3 193570445 193577438 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17871,esv1107 M 271 0 0 FGF12 NA10857 nsv822388 3 193598985 193606853 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423321 S 31 0 1 FGF12 NA18999 esv23583 3 193605468 193606179 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11836 S 451 0 4 FGF12 NA18502,NA18858,NA18861,NA19114 esv270093 3 193620314 193620598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509084,essv2510835 M 157 2 0 Samples from several populations that are part of the HapMap project. FGF12 NA18522,NA19116 nsv829822 3 193661982 193832711 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443298 S 95 1 0 FGF12 nsv4172 3 193688882 193722461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7909 S 9 1 0 FGF12 NA12156 esv990918 3 193695520 193706382 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565639 S 3 0 1 FGF12 HuRef nsv878121 3 193741057 193787902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503839 S 6533 0 1 FGF12 SP52117 nsv822389 3 193747447 193750968 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433580 S 31 0 1 FGF12 NA18526 esv29615 3 193787574 193795542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11826 S 451 0 1 FGF12 NA11993 nsv469781 3 193832596 193983247 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649802 M 265 0 11 Samples from several populations that are part of the HapMap project. FGF12 esv2424454 3 193840907 193842400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173663 S 1 0 1 FGF12 NA18507 esv21757 3 193856371 193861662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17277 S 451 0 2 FGF12 NA12489,NA18502 esv272643 3 193859181 193859282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580313,essv2579997 M 7 2 0 Samples from several populations that are part of the HapMap project. FGF12 NA12891,NA12892 esv268801 3 193859184 193859418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503227,essv2511421,essv2499332,essv2508063,essv2502579,essv2494348,essv2493323,essv2504581,essv2511311,essv2507632,essv2507547,essv2509359,essv2511703,essv2493136,essv2505451,essv2496013,essv2502613,essv2501499,essv2497537,essv2501972 M 157 20 0 Samples from several populations that are part of the HapMap project. FGF12 NA11881,NA11920,NA11994,NA12045,NA12750,NA18502,NA18504,NA18563,NA18570,NA18576,NA18638,NA18909,NA18940,NA18951,NA18952,NA18961,NA18965,NA19093,NA19147,NA19239 esv28970 3 193871993 193874865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16651 S 451 0 4 FGF12 NA07045,NA11931,NA11993,NA12828 esv1005070 3 193872178 193881161 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564614 S 3 0 1 FGF12 HuRef dgv115e180 3 193872491 193874740 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988039,esv998286 M 3 0 1 FGF12 HuRef nsv471138 3 193889962 194086023 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544687 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FGF12,MB21D2 HGDP01033 nsv878122 3 193906992 194020854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561377 S 6533 1 0 FGF12,MB21D2 MS24968 nsv461124 3 193916752 194086023 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537571 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FGF12,MB21D2 HGDP01033 esv33711 3 193958023 193965607 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98162,essv94802,essv97321,essv96734 M 51 0 4 "" 21772,21791,21879,22011 esv997039 3 194010851 194010924 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569773 S 3 0 1 MB21D2 HuRef dgv847n67 3 194070177 194071429 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822391,nsv822390 M 31 0 2 MB21D2 NA18542,NA18969 nsv437906 3 194082030 194092410 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467926 S 269 0 1 Samples from several populations that are part of the HapMap project. MB21D2 NA19210 dgv308n21 3 194082030 194095615 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519787,nsv515606 M 2026 0 7 MB21D2 esv2178838 3 194155823 194156271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893502 S 1 0 1 "" NA18507 esv999882 3 194156014 194156080 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582416 S 3 0 1 "" HuRef esv2542575 3 194156014 194156081 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162381 S 1 0 1 "" NA18507 nsv237523 3 194156014 194156081 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256101 M 24 "" esv1052208 3 194156014 194156082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088370 S 2 0 1 "" HuRef nsv513101 3 194224470 194227885 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626591 S 1 0 1 "" 1 esv2491536 3 194226402 194228064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279961 S 1 0 1 "" NA18507 esv2263187 3 194226932 194227775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789649 S 1 0 1 "" NA18507 esv997387 3 194226946 194227728 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564148 S 3 0 1 "" HuRef esv4517 3 194227028 194227863 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26958 S 1 0 1 Single Asian sample YH "" YH esv5609 3 194227045 194227608 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28050 S 1 0 1 "" SJK esv1002493 3 194227047 194227586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580394 S 3 0 1 "" HuRef nsv10374 3 194242101 194268191 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28509 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 esv23925 3 194260078 194265257 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11154 S 451 0 2 "" NA12156,NA12749 esv33070 3 194260213 194265258 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98688,essv101028,essv98336,essv94425,essv95422,essv95353,essv94549,essv98371 M 51 0 8 "" 21606,21693,21772,21808,21847,21872,21932,22352 dgv1546e1 3 194279071 194450428 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17495,esv81 M 271 0 0 HRASLS,MGC2889 NA12762 nsv428429 3 194279071 194450428 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454304 S 62 1 0 HRASLS,MGC2889 HGDP00472 nsv820014 3 194311609 194315503 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419584 S 2 0 1 "" AK1 nsv4173 3 194318273 194353669 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3221 S 9 1 0 "" NA12878 nsv508267 3 194339056 194370580 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622476,nssv617484,nssv619930,nssv618733 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv4174 3 194344622 194377574 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4707,nssv359,nssv11073,nssv7056,nssv3222 M 9 0 5 "" NA12156,NA12878,NA15510,NA19129,NA19240 nsv248 3 194349088 194374708 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv248 S 1 0 1 "" NA15510 esv2607576 3 194357440 194368827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239695 S 1 0 1 "" NA18507 nsv435757 3 194357456 194368332 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466054 S 2 0 1 "" NA15510 nsv513102 3 194357606 194368250 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626592 S 1 0 1 "" 1 nsv10375 3 194357657 194368245 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11881,nssv28579,nssv12372,nssv29185,nssv11734,nssv12089,nssv12387,nssv12553,nssv13230,nssv12464,nssv29155,nssv11739 M 31 11 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12740,NA12802,NA18502,NA18504,NA18517,NA19132,NA19144,NA19173,NA19221,NA19240 dgv116e180 3 194357767 194368768 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008618,esv987853 M 3 0 1 "" HuRef esv2415465 3 194357858 194368292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722294 S 1 0 1 "" NA18507 dgv848n67 3 194357946 194368103 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822392,nsv822393 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820328 3 194357946 194368103 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420363 S 1 0 1 "" NA10851 nsv819861 3 194357972 194368222 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418591 S 2 1 0 "" AK1 esv4110 3 194357989 194368218 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26551 S 1 0 1 Single Asian sample YH "" YH nsv499027 3 194358023 194368103 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585888 S 9 0 1 "" esv7586 3 194358026 194368109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30027 S 1 0 1 "" SJK esv32766 3 194358037 194368327 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101507,essv98803,essv101255,essv93920,essv100793,essv96849,essv100916,essv95117,essv98241,essv97051,essv95662,essv95459,essv95326,essv95873,essv94571,essv99079,essv92873,essv96189,essv99961,essv95969,essv93351,essv99708,essv94969,essv92524,essv98018,essv99250,essv100211,essv100538,essv100448,essv99419,essv96259 M 51 30 1 "" 21603,21606,21618,21634,21656,21659,21693,21721,21772,21817,21841,21847,21872,21911,21932,21938,21939,22007,22086,22127,22170,22217,22231,22233,22259,22275,22286,22298,22300,22335,22371 esv26866 3 194358041 194368093 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13840 S 451 27 0 "" NA06985,NA07045,NA11931,NA11995,NA12004,NA12006,NA12156,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19240 esv2422040 3 194358067 194365597 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079994,essv5026893,essv5137817,essv5009255,essv5074288,essv5082611,essv5031457,essv5034752,essv5041721,essv5157335,essv5117025,essv5030092,essv5062117,essv5108615,essv5014689,essv5043818,essv5047178,essv5096219,essv5126099,essv5020819,essv5082533,essv5087960,essv5121739,essv5056984,essv5108974,essv5139125,essv5003118,essv5057268,essv5104588,essv5124954,essv5116833,essv5097629,essv5100780,essv5061529,essv5087674,essv5080299,essv5126493,essv5026419,essv5143156,essv5024012,essv5114859,essv5105530,essv5130771,essv5057007,essv5065488,essv5092441,essv5042379,essv5159713,essv5078090,essv5025973,essv5144116,essv5043367,essv5130964,essv5053383,essv5012450,essv5100220,essv5008592,essv5140855,essv5136547,essv5090108,essv5100422,essv5057794,essv5080549,essv5083446,essv5033507,essv5035489,essv5083007,essv5094343,essv5043374,essv5068048,essv5011279,essv5035765,essv5056193,essv5110075,essv5096347,essv5070471,essv5097351,essv5017971,essv5043886,essv5045340,essv5085292,essv5138643,essv5113975,essv5080975,essv5098508,essv5082622,essv5150402,essv5094238,essv5158621,essv5031082,essv5081211,essv5128080,essv5094181,essv5051033,essv5105495,essv5047146,essv5034115,essv5077406,essv5011234,essv5004396,essv5116929,essv5106993,essv5145872,essv5044166,essv5114259,essv5018474,essv5011519,essv5041004,essv5044957,essv5050284,essv5016360,essv5041737,essv5073800,essv5062153,essv5028011,essv5080273,essv5119806,essv5069597,essv5156936,essv5084490,essv5006571,essv5065352,essv5127501,essv5076536,essv5119349,essv5091399,essv5130229,essv5147717,essv5141752,essv5028349,essv5108654,essv5140753,essv5084074,essv5027961,essv5022092,essv5133779,essv5050664,essv5158980,essv5147467,essv5046157,essv5078760,essv5008468,essv5067747,essv5091675,essv5140873,essv5041073,essv5008377,essv5025396,essv5152972,essv5006674,essv5150840,essv5061071,essv5086939,essv5145746,essv5023261,essv5138147,essv5041708,essv5117000,essv5004718,essv5089422,essv5076645,essv5095764,essv5053484,essv5057711,essv5007740,essv5112530,essv5078141,essv5019848,essv5066973,essv5133120,essv5048615,essv5026788,essv5151122,essv5065879,essv5138233,essv5123281,essv5102840,essv5117674,essv5052015,essv5008040,essv5049226,essv5089674,essv5039861,essv5104888,essv5008686,essv5158417,essv5003540,essv5039184,essv5075672,essv5111697,essv5157089,essv5049485,essv5067575,essv5007506,essv5150336,essv5153258,essv5115289,essv5068046,essv5147803,essv5144986,essv5136580,essv5106751,essv5088139,essv5100957,essv5086780,essv5029290,essv5047068,essv5042402,essv5006350,essv5036999,essv5147498,essv5158122,essv5025558,essv5003593,essv5144787,essv5094438,essv5017305,essv5076712,essv5066357,essv5159802,essv5108651,essv5068913,essv5137554,essv5060324,essv5033860,essv5030527,essv5061148,essv5156867,essv5044188,essv5126500,essv5088580,essv5026084,essv5016968,essv5133334,essv5016904,essv5071785,essv5071571,essv5140669,essv5148203,essv5085942,essv5048635,essv5095416,essv5117350,essv5106862,essv5080365,essv5080478,essv5026618,essv5072588,essv5154502,essv5052898,essv5092950,essv5022207,essv5026615,essv5103632,essv5109364,essv5095988,essv5112804,essv5002398,essv5014538,essv5095396,essv5061681,essv5152495,essv5026225,essv5108889,essv5033272,essv5078885,essv5093685,essv5069273,essv5035339,essv5127091,essv5157459,essv5128175,essv5049531,essv5067003,essv5002224,essv5151477,essv5066377,essv5132958,essv5026246,essv5146106,essv5102499,essv5055388,essv5011320,essv5037472,essv5074236,essv5030427,essv5026120,essv5146635,essv5029961,essv5160700,essv5095351,essv5043421,essv5073721,essv5119958,essv5041356,essv5015371,essv5106128,essv5106508,essv5060809,essv5106518,essv5112012,essv5062250,essv5106008,essv5068822,essv5035763,essv5152618,essv5044999,essv5130501,essv5068276,essv5065260,essv5004235,essv5102583,essv5082366,essv5013708,essv5034753,essv5037924,essv5119278,essv5137863,essv5062655,essv5045294,essv5056194,essv5078072,essv5150190,essv5045851,essv5157548,essv5058811,essv5062016,essv5027828,essv5079509,essv5083552,essv5024704,essv5029212,essv5091878,essv5059769,essv5027527,essv5051085,essv5032437,essv5100721,essv5045141,essv5057762,essv5082878,essv5115107,essv5039298,essv5067062,essv5005116,essv5108927,essv5073302,essv5141579,essv5075213,essv5118196,essv5145636,essv5096821,essv5013460,essv5101144,essv5154757,essv5137241,essv5097999,essv5154934,essv5129007,essv5063204,essv5060754,essv5096683,essv5102294,essv5043473,essv5060934,essv5029117,essv5044078,essv5033840,essv5011875,essv5037848,essv5106553,essv5123714,essv5023582,essv5017337,essv5022800,essv5040154,essv5134220,essv5081337,essv5080795,essv5102056,essv5124154,essv5143075,essv5148617,essv5012156,essv5006958,essv5053311,essv5095630,essv5059688,essv5027984,essv5148692,essv5030803,essv5148870,essv5040709,essv5050273,essv5109438,essv5153186,essv5072415,essv5137211,essv5059384,essv5111109,essv5122026,essv5027218,essv5010519,essv5046873,essv5074142,essv5078318,essv5044548,essv5057113,essv5147929,essv5053077,essv5078062,essv5155862,essv5142411,essv5050235,essv5139353,essv5108795,essv5036596,essv5107277,essv5091947,essv5124662,essv5089360,essv5123482,essv5030401,essv5032587,essv5160544,essv5088897,essv5020577,essv5072727,essv5061499,essv5078670,essv5090980,essv5110083,essv5089096,essv5113436,essv5100897,essv5107551,essv5156583,essv5048159,essv5122327,essv5006164,essv5060906,essv5155967,essv5108019,essv5137190,essv5073297,essv5057420,essv5061617,essv5064836,essv5105182,essv5021440,essv5081972,essv5041816,essv5148416,essv5036158,essv5047574,essv5055991,essv5155206,essv5132536,essv5063678,essv5050128,essv5155056,essv5087388,essv5061520,essv5125158,essv5029422,essv5146977,essv5106590,essv5089619,essv5064933,essv5106147,essv5135838,essv5100123,essv5024659,essv5018873,essv5094331,essv5137071,essv5104797,essv5006481,essv5141630,essv5107438,essv5002673,essv5092935,essv5141660,essv5135269,essv5036044,essv5036124,essv5111814,essv5080852,essv5030522,essv5147263,essv5108234,essv5055683,essv5028695,essv5153151,essv5070501,essv5069746,essv5052196,essv5139778,essv5124551,essv5154859,essv5135457,essv5061748,essv5113536,essv5125435,essv5123265,essv5117532,essv5057142,essv5005364,essv5028529,essv5127261,essv5028007,essv5010943,essv5154456,essv5017082,essv5056047,essv5132169,essv5110374,essv5127829,essv5063816,essv5141114,essv5125375,essv5138875,essv5119973,essv5122839,essv5051477,essv5049075,essv5077990,essv5158414,essv5148673,essv5127913,essv5121741,essv5118328,essv5063785,essv5139518,essv5024909,essv5145752,essv5015910,essv5066140,essv5046736,essv5157469,essv5024075,essv5076797,essv5039156,essv5038183,essv5057448,essv5127873,essv5108845,essv5029058,essv5057217,essv5156944,essv5115131,essv5078454,essv5113615,essv5064255,essv5050087,essv5077784,essv5038302,essv5045658,essv5122842,essv5076510,essv5112625,essv5019202,essv5130430,essv5096240,essv5146824,essv5151626,essv5129997,essv5058475,essv5090073,essv5140235,essv5020150,essv5061871,essv5108483,essv5070443,essv5133874,essv5110755,essv5028074,essv5057123,essv5104665,essv5134004,essv5006531,essv5119954,essv5060277,essv5023008,essv5093419,essv5079907,essv5103939,essv5099543,essv5021756,essv5091535,essv5020281,essv5120399,essv5039973,essv5058683,essv5005267,essv5073746,essv5078896,essv5139295,essv5093776,essv5005648,essv5149049,essv5103016,essv5129303,essv5125714,essv5108742,essv5041807,essv5099253,essv5115464,essv5033455,essv5051631,essv5014668,essv5087317,essv5027606,essv5092602,essv5103828,essv5030975,essv5137374,essv5107350,essv5088564,essv5149434,essv5097628,essv5048133,essv5136806,essv5093247,essv5037881,essv5049746,essv5100574,essv5053627,essv5065538,essv5091471,essv5114394,essv5003463,essv5035918,essv5101720,essv5090237,essv5158474,essv5081513,essv5065495,essv5011189,essv5109106,essv5078389,essv5041127,essv5028854,essv5112508,essv5104261,essv5070627,essv5155791,essv5089966,essv5076088,essv5019253,essv5102900,essv5131279,essv5109100,essv5145227,essv5149683,essv5020720,essv5139398,essv5063258,essv5094064,essv5059729,essv5070611,essv5050521,essv5046825,essv5157499,essv5007876,essv5039467,essv5111180,essv5108839,essv5128585,essv5025137,essv5156822,essv5059573,essv5145047,essv5004000,essv5141246,essv5140084,essv5097044,essv5020262,essv5085678,essv5020135,essv5083174,essv5043213,essv5147728,essv5087727,essv5074891,essv5064787,essv5067471,essv5112119,essv5136130,essv5025272,essv5048114,essv5129975,essv5146920,essv5063572,essv5095409,essv5062630,essv5010387,essv5121701,essv5098830,essv5115305,essv5023694,essv5078572,essv5126814,essv5158856,essv5092306,essv5154734,essv5009267,essv5090381,essv5122203,essv5138772,essv5056363,essv5022190,essv5061053,essv5077415,essv5123045,essv5155942,essv5068566,essv5039119,essv5109270,essv5106032,essv5127300,essv5139757,essv5047257,essv5006797,essv5118099,essv5109396,essv5118452,essv5143292,essv5156874,essv5071996,essv5049649,essv5057806,essv5078531,essv5119603,essv5151800,essv5007046,essv5102859,essv5150354,essv5128139,essv5113046,essv5042744,essv5135971,essv5159108,essv5023634,essv5157747,essv5003437,essv5146022,essv5061069,essv5115236,essv5100953,essv5019382,essv5054424,essv5025369,essv5064927,essv5057811,essv5096188,essv5018755,essv5076809,essv5101742,essv5041146,essv5127408,essv5151469,essv5074375,essv5060171,essv5042082,essv5079711,essv5115065,essv5149104,essv5038491,essv5072339,essv5098579,essv5130238,essv5029567,essv5070608,essv5122090,essv5023589,essv5074986,essv5133780,essv5115043,essv5051421,essv5140126,essv5083541,essv5074157,essv5076862,essv5143618,essv5137237,essv5082296,essv5021317,essv5123121,essv5053611,essv5088905,essv5155813,essv5064299,essv5075379,essv5088942,essv5013427,essv5046139,essv5125533,essv5006192,essv5031713,essv5146570,essv5122541,essv5139626,essv5013876,essv5013335,essv5045854,essv5019060,essv5066865,essv5084123,essv5116452,essv5032824,essv5062389,essv5122479,essv5053292,essv5011938,essv5026770,essv5060075,essv5109849,essv5144648,essv5043808,essv5076548,essv5030167,essv5113855,essv5060165,essv5126410,essv5128111,essv5019943,essv5052238,essv5068736,essv5098914,essv5080998,essv5090452,essv5060926,essv5075779,essv5136403,essv5026257,essv5054316,essv5062042,essv5039713,essv5035995,essv5020837,essv5044185,essv5065115,essv5009541,essv5005493,essv5098772,essv5128564,essv5052385,essv5047395,essv5009104,essv5099807,essv5126373,essv5005106,essv5130243,essv5063967,essv5070406,essv5038604,essv5155678,essv5051674,essv5038662,essv5053935,essv5030429,essv5101022,essv5110442,essv5141207,essv5088918,essv5092966,essv5052306,essv5058202,essv5005521,essv5156610,essv5025947,essv5113295,essv5032002,essv5020872,essv5087956,essv5087040,essv5113033,essv5003997,essv5006510,essv5100569,essv5036840,essv5137500,essv5083614,essv5025776,essv5123977,essv5095401,essv5078909,essv5044408,essv5069838,essv5024848,essv5050126,essv5055278,essv5129408,essv5064277,essv5118539,essv5094462,essv5071641,essv5136699,essv5060904,essv5108942,essv5105821,essv5128709,essv5029367,essv5133901,essv5077720,essv5129820,essv5099961,essv5078056,essv5015908,essv5077987,essv5009243,essv5109733,essv5081675,essv5069977,essv5103296,essv5085998,essv5149864,essv5052776,essv5014931,essv5103509,essv5032450,essv5102323,essv5083546,essv5120573,essv5122357,essv5158455,essv5097473,essv5061429,essv5098329,essv5073232,essv5063774,essv5043067,essv5028194,essv5011614,essv5137925,essv5151213,essv5065918,essv5150828,essv5009414,essv5140746,essv5019141,essv5021682,essv5136994,essv5130193,essv5070416,essv5042503,essv5037122,essv5036331,essv5121009,essv5101424,essv5141093,essv5038634,essv5125064,essv5043742,essv5109895,essv5157462,essv5087523,essv5112244,essv5113847,essv5072449,essv5057367,essv5083314,essv5015193,essv5144345,essv5021386,essv5063756,essv5142323,essv5095432,essv5112996,essv5107630,essv5132698,essv5047664,essv5142983,essv5108706,essv5051860,essv5046677,essv5084966,essv5096373,essv5007770,essv5033929,essv5151045,essv5105740,essv5093134,essv5062890,essv5116485,essv5084988,essv5088877,essv5125141,essv5141202,essv5095675,essv5092607,essv5118116,essv5017765,essv5088007,essv5027425,essv5012597,essv5102015,essv5109699,essv5053746,essv5107288,essv5134828,essv5130156,essv5041790,essv5099458,essv5046319,essv5096028,essv5028836,essv5131039,essv5112373,essv5002415,essv5022750,essv5043703,essv5132007 M 1184 0 1014 "" NA06984,NA06985,NA06986,NA06989,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA10830,NA10831,NA10835,NA10837,NA10839,NA10840,NA10843,NA10846,NA10847,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11830,NA11831,NA11832,NA11839,NA11843,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11931,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12740,NA12748,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12875,NA12877,NA12878,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18497,NA18498,NA18499,NA18500,NA18505,NA18506,NA18507,NA18509,NA18515,NA18517,NA18518,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18867,NA18869,NA18871,NA18872,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18914,NA18923,NA18924,NA18925,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18957,NA18959,NA18961,NA18962,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19036,NA19038,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19148,NA19150,NA19152,NA19160,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19189,NA19190,NA19191,NA19192,NA19193,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19238,NA19240,NA19247,NA19248,NA19249,NA19257,NA19258,NA19307,NA19308,NA19310,NA19311,NA19313,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19347,NA19350,NA19352,NA19360,NA19371,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19381,NA19383,NA19384,NA19385,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19404,NA19428,NA19430,NA19434,NA19435,NA19436,NA19437,NA19439,NA19440,NA19443,NA19445,NA19449,NA19455,NA19456,NA19457,NA19463,NA19467,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19654,NA19656,NA19657,NA19658,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19680,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19726,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19900,NA19901,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19919,NA19921,NA19982,NA19983,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20333,NA20334,NA20335,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20502,NA20505,NA20506,NA20508,NA20509,NA20510,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20527,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20589,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20768,NA20769,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20870,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20906,NA20907,NA20908,NA20909,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21317,NA21318,NA21320,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21381,NA21383,NA21384,NA21385,NA21386,NA21388,NA21389,NA21390,NA21400,NA21403,NA21404,NA21405,NA21408,NA21414,NA21417,NA21418,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21476,NA21477,NA21479,NA21480,NA21485,NA21486,NA21487,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21529,NA21573,NA21574,NA21575,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21597,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21632,NA21635,NA21636,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21739,NA21741,NA21768,NA21776,NA21825,NA21826 nsv437907 3 194358067 194366867 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv467960,nssv468031,nssv467998,nssv468026,nssv467999,nssv468076,nssv467982,nssv468056,nssv468087,nssv467948,nssv468068,nssv468073,nssv468080,nssv468034,nssv467996,nssv468014,nssv467988,nssv468003,nssv467974,nssv468082,nssv468001,nssv468062,nssv467994,nssv468050,nssv467991,nssv467966,nssv468018,nssv467957,nssv467962,nssv467989,nssv468079,nssv468039,nssv467945,nssv468020,nssv467932,nssv468009,nssv467976,nssv468004,nssv467983,nssv468045,nssv467934,nssv467977,nssv467970,nssv468036,nssv468054,nssv468000,nssv467956,nssv467943,nssv468010,nssv468035,nssv467951,nssv468078,nssv468028,nssv467939,nssv468077,nssv468002,nssv467961,nssv467944,nssv467973,nssv468070,nssv467927,nssv467946,nssv467937,nssv468053,nssv468060,nssv468038,nssv468033,nssv468011,nssv468055,nssv468071,nssv468072,nssv468012,nssv467978,nssv468046,nssv467953,nssv467959,nssv468066,nssv468084,nssv467992,nssv468029,nssv468047,nssv468057,nssv467950,nssv468040,nssv467993,nssv468065,nssv467936,nssv467968,nssv468032,nssv468016,nssv468061,nssv468013,nssv468007,nssv468088,nssv468023,nssv467949,nssv468027,nssv468089,nssv467967,nssv467940,nssv468042,nssv467938,nssv468044,nssv468015,nssv468069,nssv467947,nssv468058,nssv467980,nssv468059,nssv468064,nssv467942,nssv468025,nssv468048,nssv467931,nssv467969,nssv467933,nssv467958,nssv468021,nssv468043,nssv467954,nssv467935,nssv467981,nssv468024,nssv467995,nssv467971,nssv467984,nssv467990,nssv468037,nssv467928,nssv468049,nssv468067,nssv468085,nssv468081,nssv468051,nssv467955,nssv467965,nssv468006,nssv467972,nssv468017,nssv468083,nssv467985,nssv467929,nssv468005,nssv467979,nssv467987,nssv468022 M 269 0 141 Samples from several populations that are part of the HapMap project. "" NA06994,NA07000,NA07019,NA07022,NA07029,NA07034,NA07048,NA07357,NA10835,NA10838,NA10846,NA10847,NA10851,NA10855,NA10857,NA10863,NA11830,NA11831,NA11832,NA11993,NA12004,NA12005,NA12043,NA12056,NA12144,NA12146,NA12155,NA12234,NA12239,NA12248,NA12264,NA12707,NA12716,NA12717,NA12750,NA12752,NA12760,NA12763,NA12801,NA12812,NA12813,NA12864,NA12865,NA12872,NA12875,NA12891,NA18521,NA18522,NA18526,NA18537,NA18540,NA18542,NA18545,NA18550,NA18552,NA18558,NA18562,NA18563,NA18564,NA18570,NA18571,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18608,NA18609,NA18611,NA18612,NA18620,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18857,NA18858,NA18859,NA18860,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18953,NA18959,NA18961,NA18964,NA18965,NA18966,NA18967,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18997,NA18998,NA19000,NA19005,NA19007,NA19100,NA19102,NA19120,NA19128,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19145,NA19204,NA19211,NA19238 esv2634447 3 194358431 194367817 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276117 S 1 0 1 "" NA18507 nsv442888 3 194360656 194365597 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514194 3 194361056 194365584 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627631 S 1414 0 1 "" nsv822394 3 194362399 194367660 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435011 S 31 0 1 "" NA18942 nsv822395 3 194362759 194364520 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430509,nssv1431991 M 31 0 2 "" AK16,AK20 nsv878123 3 194432676 194675489 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548737 S 6533 1 0 ATP13A4,ATP13A5,HRASLS,MGC2889 MS17878 esv1179184 3 194563273 194563273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865521 S 2 1 0 ATP13A5 HuRef nsv822396 3 194582794 194583384 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423323 S 31 0 1 "" NA18999 nsv249 3 194606353 194645398 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv249 S 1 0 1 ATP13A4 NA15510 nsv4175 3 194606353 194645398 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11075,nssv4708 M 9 0 2 ATP13A4 NA15510,NA19129 nsv526405 3 194612501 194621399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702705 S 2026 0 1 ATP13A4 nsv435748 3 194617287 194626860 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466055 S 2 0 1 ATP13A4 NA15510 nsv499028 3 194618157 194625631 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585889 S 9 0 1 ATP13A4 esv7599 3 194618158 194625644 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30040 S 1 0 1 ATP13A4 SJK esv26041 3 194618944 194625564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21073 S 451 0 3 ATP13A4 NA15510,NA18508,NA19129 nsv437908 3 194619170 194621399 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468090,nssv468093,nssv468091,nssv468094,nssv468095,nssv468092 M 269 0 6 Samples from several populations that are part of the HapMap project. ATP13A4 NA18637,NA18944,NA18945,NA18987,NA18992,NA19000 esv2421348 3 194619170 194623042 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022732,essv5144869,essv5065185,essv5004743,essv5003475,essv5076372,essv5110794,essv5068631,essv5012332,essv5144727,essv5011057,essv5007383,essv5157049,essv5156742,essv5040102,essv5037129,essv5093607,essv5119526,essv5131626,essv5151538,essv5003215,essv5084778,essv5016093,essv5049990,essv5119403,essv5147807,essv5054588,essv5126590,essv5153436,essv5156824,essv5117972,essv5071181,essv5008254,essv5152800,essv5089169,essv5105251,essv5127246,essv5097086,essv5140207,essv5125608,essv5035005,essv5093430,essv5018479,essv5025255,essv5155679,essv5099206,essv5044402,essv5161156,essv5131008,essv5127049,essv5022603,essv5034883,essv5027714,essv5040035,essv5071918,essv5001977,essv5024095,essv5049229,essv5108566,essv5143222,essv5126990,essv5049299,essv5154468,essv5032783,essv5020638,essv5101977,essv5152744,essv5128227,essv5081867,essv5089058,essv5127180,essv5022879,essv5101332,essv5061606,essv5113953,essv5113723,essv5158826,essv5157545,essv5106933,essv5020051,essv5131117,essv5018778,essv5019783,essv5113860,essv5073693,essv5027443,essv5143185,essv5012342,essv5110315,essv5137718,essv5054237,essv5045535,essv5020112,essv5085495,essv5079446,essv5082183,essv5078310,essv5085829,essv5108807,essv5087774,essv5094622,essv5030297,essv5058034,essv5137736,essv5153943,essv5092091,essv5004812,essv5100432,essv5136318,essv5044118,essv5019628,essv5024245,essv5073471,essv5104088,essv5042917,essv5091784,essv5095126,essv5006498,essv5046610,essv5074621,essv5072981,essv5110354,essv5060749,essv5132405,essv5040934,essv5056909,essv5155995,essv5149053,essv5075926,essv5031335,essv5042121,essv5070594,essv5006807,essv5071426,essv5109589,essv5026523,essv5057750,essv5105993,essv5064617,essv5156507,essv5073543,essv5012944,essv5139378,essv5042657,essv5114973,essv5068434,essv5025441,essv5015456,essv5131417,essv5066990,essv5017126,essv5018881,essv5004992,essv5157730,essv5140544,essv5064945,essv5078613,essv5002920,essv5104762,essv5038697,essv5101403,essv5142491,essv5090636,essv5146421,essv5038285,essv5038432,essv5138016,essv5101179,essv5135648,essv5103669,essv5065126,essv5127328,essv5026616,essv5045150,essv5038859,essv5113157,essv5103215,essv5130730 M 1184 0 178 ATP13A4 NA10853,NA12763,NA12865,NA12874,NA17966,NA17968,NA17974,NA17976,NA17979,NA17981,NA17986,NA17990,NA18101,NA18102,NA18112,NA18128,NA18134,NA18138,NA18140,NA18146,NA18152,NA18153,NA18157,NA18158,NA18159,NA18160,NA18162,NA18498,NA18500,NA18501,NA18506,NA18508,NA18510,NA18526,NA18534,NA18537,NA18544,NA18550,NA18557,NA18563,NA18564,NA18570,NA18579,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18611,NA18617,NA18618,NA18619,NA18621,NA18622,NA18626,NA18630,NA18634,NA18637,NA18639,NA18674,NA18685,NA18696,NA18740,NA18749,NA18757,NA18944,NA18945,NA18947,NA18951,NA18952,NA18953,NA18957,NA18960,NA18961,NA18964,NA18967,NA18968,NA18975,NA18981,NA18987,NA18993,NA19000,NA19009,NA19054,NA19057,NA19058,NA19059,NA19063,NA19064,NA19066,NA19067,NA19072,NA19075,NA19085,NA19093,NA19094,NA19127,NA19129,NA19131,NA19138,NA19175,NA19181,NA19214,NA19215,NA19238,NA19309,NA19313,NA19359,NA19375,NA19380,NA19384,NA19399,NA19429,NA19430,NA19438,NA19443,NA19445,NA19452,NA19471,NA19472,NA19473,NA19651,NA19654,NA19656,NA19664,NA19681,NA19708,NA19720,NA19721,NA19723,NA19746,NA19748,NA19762,NA19763,NA19770,NA19773,NA19774,NA19775,NA19776,NA19783,NA19784,NA19788,NA19789,NA20300,NA20340,NA20348,NA20796,NA20800,NA20818,NA20877,NA20896,NA21099,NA21117,NA21317,NA21318,NA21320,NA21344,NA21391,NA21399,NA21420,NA21439,NA21447,NA21448,NA21457,NA21479,NA21513,NA21519,NA21520,NA21521,NA21524,NA21525,NA21576,NA21580,NA21614,NA21683,NA21685,NA21686 dgv309n21 3 194619170 194635102 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516400,nsv527401 M 2026 0 30 ATP13A4 esv4085 3 194714883 194715244 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26526 S 1 0 1 Single Asian sample YH ATP13A4 YH dgv1547e1 3 194716594 194886340 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24272,esv271 M 271 0 0 ATP13A4,OPA1 NA10856 esv1727122 3 194783394 194783446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660406 S 2 0 1 "" HuRef esv2449864 3 194836731 194837033 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391795 S 1 1 0 OPA1 NA18507 esv268105 3 194836835 194837946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540747,essv2546293,essv2521072,essv2526278,essv2545490,essv2523163,essv2531692,essv2577361,essv2570536,essv2548312,essv2521887,essv2576658,essv2525517,essv2535074,essv2554252,essv2551957,essv2520292,essv2547489,essv2558343,essv2564363,essv2553808,essv2559428,essv2576146,essv2530532,essv2537370,essv2528519,essv2557352,essv2557097,essv2552506,essv2551825,essv2532320,essv2558738,essv2527205,essv2561428,essv2544776,essv2523907,essv2541187,essv2538303,essv2542626,essv2540233,essv2524712,essv2534613,essv2519817,essv2521956,essv2567828,essv2563662,essv2572259,essv2559054,essv2551192,essv2569096,essv2543686,essv2556424,essv2528173,essv2562510,essv2539430,essv2578308,essv2573205,essv2533473,essv2566439,essv2573757,essv2527712,essv2557627,essv2556062,essv2534212,essv2573754,essv2525776,essv2529491,essv2526494,essv2524056,essv2568839,essv2545218,essv2549684,essv2571101,essv2574108,essv2551485,essv2536009,essv2538155,essv2548928,essv2533102,essv2547830,essv2524832,essv2563180 M 157 82 0 Samples from several populations that are part of the HapMap project. OPA1 NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA11831,NA11881,NA11894,NA11918,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12763,NA12776,NA12814,NA12873,NA12878,NA12891,NA18499,NA18501,NA18502,NA18504,NA18505,NA18516,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18566,NA18571,NA18577,NA18603,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18942,NA18944,NA18948,NA18951,NA18952,NA18953,NA18956,NA18959,NA18964,NA18980,NA19093,NA19114,NA19129,NA19147,NA19172,NA19225,NA19238,NA19240,NA19257 esv273412 3 194836837 194837928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581917,essv2582391,essv2584047,essv2583837 M 7 4 0 Samples from several populations that are part of the HapMap project. OPA1 NA12878,NA12891,NA19238,NA19240 nsv10376 3 194881978 194885845 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11799,nssv12291,nssv13260 M 31 0 3 Samples from several populations that are part of the HapMap project. OPA1 NA12740,NA18860,NA19221 nsv878124 3 194968259 195062685 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548738 S 6533 1 0 "" MS17878 nsv523249 3 195020253 195042630 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698978 S 2026 1 0 "" nsv528224 3 195061464 195061655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704785 S 2026 0 1 "" nsv878125 3 195101673 195317634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548739 S 6533 1 0 LOC100128023,LOC647323 MS17878 nsv878126 3 195318338 195343936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511341 S 6533 0 1 HES1 SP55021 nsv822397 3 195328417 195347813 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426573 S 31 1 0 HES1 AK6 esv24264 3 195334485 195335663 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15941 S 451 0 1 "" NA07045 nsv822399 3 195335988 195347202 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428199 S 31 1 0 HES1 AK10 nsv822400 3 195338778 195339382 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427423 S 31 1 0 HES1 AK8 esv1995729 3 195370784 195371180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583167 S 1 0 1 "" NA18507 nsv829823 3 195414670 195511915 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443299 S 95 0 1 LOC100131551 nsv4177 3 195464064 195497960 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7910 S 9 1 0 "" NA12156 esv24336 3 195549775 195550425 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13090 S 451 1 0 CPN2 NA19114 esv2563733 3 195550001 195550731 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247575 S 1 1 0 CPN2 NA18507 esv4218 3 195554252 195554527 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26659 S 1 0 1 Single Asian sample YH "" YH esv7212 3 195554544 195554593 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29653 S 1 1 0 "" SJK esv995002 3 195559248 195559312 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575112 S 3 0 1 LRRC15 HuRef nsv4178 3 195566215 195598329 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10385 S 9 1 0 GP5,LRRC15 NA18956 esv2563925 3 195577229 195578076 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315820 S 1 1 0 "" NA18507 esv23920 3 195582236 195584385 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14473 S 451 0 1 "" NA19240 esv268266 3 195587051 195587136 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517526 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 esv2495130 3 195601403 195603458 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322525 S 1 0 1 "" NA18507 esv2374294 3 195602277 195603404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617091 S 1 0 1 "" NA18507 nsv513103 3 195602327 195603271 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626593 S 1 0 1 "" 1 esv988563 3 195602458 195603214 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580767 S 3 0 1 "" HuRef nsv236292 3 195602462 195603218 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254870 M 24 "" nsv516867 3 195658611 195694821 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690646,nssv689131,nssv676613,nssv655187,nssv703033,nssv684870,nssv672710,nssv701031,nssv654543 M 2026 1 8 ATP13A3,FLJ34208 nsv878127 3 195658611 195756724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571350 S 6533 1 0 ATP13A3,FLJ34208 IS32703 dgv5363n71 3 195715291 195770580 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878130,nsv878131,nsv878129,nsv878128 M 6533 5 0 "" SP50156,SP54430,SP55312,SP56965,SP56975 nsv237958 3 195728997 195728997 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256536 M 24 "" nsv509875 3 195729227 195735227 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621222,nssv623931,nssv622042 M 4 0 3 "" NA10860,NA15510,NA18994 nsv528574 3 195734782 195736897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705193 S 2026 0 1 "" dgv310n21 3 195815486 195835803 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520433,nsv517166 M 2026 0 9 TMEM44 nsv508268 3 195820425 195884002 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619931 S 4 0 1 LSG1,TMEM44 NA15510 esv24185 3 195831720 195832715 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20911 S 451 0 1 TMEM44 NA07037 nsv519476 3 195847296 196174518 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696873 S 2026 1 0 FAM43A,LOC100507391,LSG1 nsv513104 3 195864375 195867630 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626594 S 1 0 1 LSG1 1 esv2568026 3 195864987 195866503 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178914 S 1 0 1 LSG1 NA18507 esv2297678 3 195865196 195865965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758324 S 1 0 1 LSG1 NA18507 nsv821145 3 195865211 195865840 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420364 S 1 0 1 LSG1 NA10851 esv23345 3 195865211 195881592 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10464,esv10921,esv21148 M 451 23 0 LSG1 NA07045,NA11894,NA12004,NA12006,NA12287,NA12414,NA12749,NA12776,NA15510,NA18502,NA18508,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv993455 3 195865375 195865766 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570364 S 3 0 1 LSG1 HuRef nsv237578 3 195865375 195865766 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256156 M 24 LSG1 esv1145977 3 195865416 195865808 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865814 S 2 0 1 LSG1 HuRef esv6418 3 195865435 195865813 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28859 S 1 0 1 LSG1 SJK nsv526568 3 195870680 196020410 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702884 S 2026 1 0 FAM43A,LOC100507391,LSG1 esv1004844 3 195875153 195882442 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565019 S 3 0 1 "" HuRef nsv515000 3 195879952 195881776 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628495 S 1414 0 0 "" nsv513105 3 195879958 195881753 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626595 S 1 0 1 "" 1 esv4256 3 195879960 195881756 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26697 S 1 0 1 Single Asian sample YH "" YH esv991648 3 195879977 195881584 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583172 S 3 0 1 "" HuRef esv8176 3 195880022 195881577 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30617 S 1 0 1 "" SJK esv1111641 3 195880028 195881636 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3682501 S 2 0 1 "" HuRef nsv820644 3 195880042 195881681 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420365 S 1 0 1 "" NA10851 nsv822401 3 195880042 195881681 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434351,nssv1427424,nssv1439196,nssv1435012,nssv1437372,nssv1435802,nssv1424905,nssv1424120,nssv1425208,nssv1432761,nssv1431242,nssv1423325,nssv1436525,nssv1421627,nssv1440283,nssv1429727,nssv1425677,nssv1425693,nssv1430510,nssv1426575,nssv1431992,nssv1428975,nssv1440997,nssv1439612,nssv1433582,nssv1438086 M 31 0 26 "" AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv822402 3 195880057 195881681 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424631,nssv1438746,nssv1428201,nssv1422528 M 31 1 3 "" AK10,NA18552,NA18592,NA18973 nsv4179 3 195905124 195937411 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4709 S 9 1 0 LOC100507391 NA19129 esv24186 3 195938329 195940568 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18846 S 451 0 1 LOC100507391 NA07045 esv1610810 3 195938439 195938491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091691 S 2 0 1 LOC100507391 HuRef nsv4180 3 195942539 195987214 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7911 S 9 0 1 LOC100507391 NA12156 nsv469698 3 195974122 196139831 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649630 M 265 0 3 Samples from several populations that are part of the HapMap project. LOC100507391 nsv878132 3 195975262 196032949 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548740 S 6533 1 0 LOC100507391 MS17878 nsv878133 3 196007704 196058131 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550870 S 6533 1 0 "" MS18620 nsv525297 3 196013731 196014759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701403 S 2026 0 1 "" esv4969 3 196024482 196027600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27410 S 1 0 1 Single Asian sample YH "" YH nsv237106 3 196024580 196027545 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255684 M 24 "" esv4334 3 196024939 196027619 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26775 S 1 1 0 Single Asian sample YH "" YH nsv10377 3 196036098 196038895 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13253 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 esv2451272 3 196036507 196038240 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210627 S 1 0 1 "" NA18507 nsv820530 3 196036806 196037486 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420366 S 1 0 1 "" NA10851 nsv822403 3 196036806 196037486 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424756,nssv1435013,nssv1439207,nssv1434353,nssv1423326,nssv1439613,nssv1433583 M 31 7 0 "" NA18526,NA18537,NA18547,NA18570,NA18592,NA18942,NA18999 esv2181170 3 196036829 196037753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569626 S 1 0 1 "" NA18507 esv5076 3 196036910 196037656 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27517 S 1 0 1 Single Asian sample YH "" YH esv27362 3 196037038 196037973 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12428 S 451 1 0 "" NA07045 nsv10378 3 196041309 196050978 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13290,nssv12321 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19221 esv21719 3 196042004 196049786 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14780 S 451 0 1 "" NA18858 esv9638 3 196096021 196096330 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32079 S 1 0 1 "" SJK esv27232 3 196096352 196220122 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18029,esv11739 M 451 1 1 "" NA12749,NA18909 nsv878134 3 196115457 196194654 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548741 S 6533 1 0 "" MS17878 esv2581881 3 196145236 196145848 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345930 S 1 1 0 "" NA18507 esv270617 3 196172738 196173040 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512624,essv2511851,essv2505874,essv2507103,essv2513451,essv2506661,essv2499740 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18499,NA18861,NA18870,NA18907,NA19108,NA19225 nsv518682 3 196192336 196194654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696131 S 2026 0 1 "" nsv528661 3 196192336 196204901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705295 S 2026 0 1 "" nsv525763 3 196194654 196200527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701931 S 2026 0 1 "" nsv878135 3 196194654 196233705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512717 S 6533 0 1 "" SP55597 esv1653494 3 196225019 196225275 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626595 S 2 0 1 "" HuRef nsv237463 3 196225350 196225600 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256041 M 24 "" esv27654 3 196236271 196236847 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17077 S 451 0 1 "" NA18909 esv269178 3 196249784 196250114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516637,essv2519308,essv2514028,essv2517659,essv2513975 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA12043,NA12878,NA19143 esv273170 3 196249784 196250114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581592 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1432010 3 196257565 196257565 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965569 S 2 1 0 "" HuRef esv1454765 3 196257589 196257589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251288 S 2 1 0 "" HuRef nsv878136 3 196260701 196326515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549645,nssv1530484,nssv1592135 M 6533 0 3 C3orf21 IS39233,MS10311,MS18276 esv22519 3 196261751 196262356 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12989 S 451 0 1 "" NA19114 esv24471 3 196262416 196267212 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21116 S 451 1 0 "" NA19114 nsv511203 3 196267001 196268462 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626588 S 1 1 0 "" 1 esv26277 3 196267276 196269779 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14572,esv16284 M 451 0 12 "" NA11894,NA11931,NA12004,NA12156,NA12287,NA12828,NA18505,NA18517,NA18523,NA19114,NA19225,NA19240 dgv849n67 3 196267304 196268927 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822404,nsv822405,nsv822406 M 31 0 9 "" AK16,AK18,AK2,AK6,AK8,NA18570,NA18968,NA18969,NA18997 nsv819035 3 196267328 196270411 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419508 S 2 0 1 C3orf21 AK1 esv33213 3 196267459 196270304 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98159,essv101316,essv95428,essv93709,essv98085 M 51 0 5 C3orf21 21772,21805,21847,21972,22259 nsv822407 3 196267562 196270332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424121 S 31 0 1 C3orf21 NA18582 nsv461126 3 196298773 196443177 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537572 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C3orf21 HGDP00525 nsv878137 3 196303387 196381721 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560853 S 6533 0 1 C3orf21 MS24736 esv3778 3 196312277 196312782 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26219 S 1 0 1 Single Asian sample YH C3orf21 YH esv996963 3 196326725 196336277 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564758 S 3 0 1 C3orf21 HuRef esv2038835 3 196347430 196347846 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539950 S 1 0 1 C3orf21 NA18507 nsv436791 3 196353792 196354200 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466056 S 2 1 0 Samples from several populations that are part of the HapMap project. C3orf21 NA18505 esv268112 3 196432096 196432181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517265 S 157 1 0 Samples from several populations that are part of the HapMap project. C3orf21 NA18970 esv28466 3 196472593 196473280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18105 S 451 0 1 C3orf21 NA07045 esv269140 3 196510314 196511946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508067,essv2497206,essv2507887,essv2494434,essv2500097,essv2507471,essv2502476,essv2493074 M 157 8 0 Samples from several populations that are part of the HapMap project. ACAP2 NA12045,NA18552,NA18564,NA18572,NA18573,NA18638,NA18948,NA18951 nsv526569 3 196519576 196604784 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702885 S 2026 1 0 ACAP2 nsv878138 3 196538290 196963462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528179 S 6533 1 0 ACAP2,APOD,MIR570,MUC20,MUC4,PPP1R2,SDHAP2 SP81149 dgv5364n71 3 196540126 196639320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878141,nsv878139 M 6533 0 2 ACAP2 SP55878,SP57472 nsv878140 3 196543684 196577914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508564 S 6533 0 1 ACAP2 SP54579 dgv1549e1 3 196584076 197555990 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv759,essv21975 M 271 0 0 ACAP2,APOD,LOC401109,MIR570,MUC20,MUC4,OSTalpha,PCYT1A,PPP1R2,SDHAP1,SDHAP2,TCTEX1D2,TFRC,TM4SF19,TM4SF19-TCTEX1D2,TNK2,ZDHHC19 NA11995 nsv878142 3 196591155 196625272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505556 S 6533 0 1 ACAP2 SP53687 dgv5365n71 3 196596518 196639320 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878143,nsv878144 M 6533 0 3 ACAP2 SP52114,SP54407,SP57418 esv8403 3 196608793 196608890 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30844 S 1 1 0 ACAP2 SJK nsv829824 3 196612356 196767987 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443300 S 95 0 1 ACAP2,PPP1R2 nsv508977 3 196627317 196722229 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620779,nssv623401 M 4 2 0 ACAP2 NA15510,NA18994 nsv10379 3 196648228 196651879 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28862 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv4181 3 196653279 196698212 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7912 S 9 0 1 "" NA12156 nsv10380 3 196677628 196716415 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13283,nssv28816,nssv11546,nssv13320,nssv29239,nssv29233,nssv29207,nssv12417,nssv29172,nssv28619,nssv11567,nssv11814,nssv28868,nssv11868,nssv12402 M 31 10 5 Samples from several populations that are part of the HapMap project. "" NA12802,NA12872,NA18502,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA19007,NA19132,NA19221 nsv820668 3 196677753 196715493 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420367 S 1 0 1 "" NA10851 esv27980 3 196679178 196718819 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21423,esv13989,esv14908 M 451 8 13 "" NA07037,NA11993,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12828,NA12878,NA18502,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19240 esv1009375 3 196680418 196714957 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586595 S 3 0 1 "" HuRef nsv428430 3 196682369 197313823 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454327,nssv454329,nssv454334,nssv454306,nssv454328,nssv454331,nssv454320,nssv454324,nssv454314,nssv454313,nssv454326,nssv454335,nssv454317,nssv454319,nssv454325,nssv454333,nssv454316,nssv454315,nssv454318,nssv454309,nssv454311,nssv454322,nssv454307,nssv454312 M 62 2 21 APOD,MIR570,MUC20,MUC4,PPP1R2,SDHAP1,SDHAP2,TFRC,TNK2 HGDP00449,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01089,HGDP01093,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv878145 3 196682740 196760408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503980 S 6533 1 0 PPP1R2 SP52147 esv1000042 3 196694041 196695273 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576194 S 3 0 1 "" HuRef nsv236472 3 196699667 196704484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255050 M 24 "" nsv236347 3 196701410 196702916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254925 M 24 "" nsv236461 3 196705501 196709500 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255039 M 24 "" nsv236277 3 196710375 196710450 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254855 M 24 "" nsv878146 3 196766922 196990196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576885 S 6533 0 1 APOD,MIR570,MUC20,MUC4,SDHAP2 IS34304 esv2431505 3 196800615 196801757 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327353 S 1 0 1 "" NA18507 dgv5366n71 3 196814388 196942560 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878147,nsv878153,nsv878149,nsv878150 M 6533 4 0 MIR570,MUC20,SDHAP2 SP50134,SP50530,SP50537,SP56234 nsv820499 3 196820976 196837632 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420368 S 1 1 0 "" NA10851 esv988264 3 196821505 196821638 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569612 S 3 0 1 "" HuRef esv1503993 3 196821546 196821680 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309485 S 2 0 1 "" HuRef nsv820189 3 196822215 196942300 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418776 S 2 1 0 MIR570,MUC20,SDHAP2 AK1 esv29859 3 196822546 196837632 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20003,esv10567 M 451 1 17 "" NA07037,NA07045,NA11995,NA12004,NA12006,NA12776,NA12828,NA12878,NA18502,NA18505,NA18517,NA18909,NA18916,NA19099,NA19108,NA19190,NA19225,NA19257 nsv822408 3 196822900 196973214 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432762,nssv1421629,nssv1429728,nssv1430512 M 31 4 0 MIR570,MUC20,MUC4,SDHAP2 AK14,AK16,NA18972,NA18997 nsv878148 3 196828316 196935289 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514529,nssv1499795,nssv1504218 M 6533 1 2 MIR570,MUC20,SDHAP2 SP50107,SP52308,SP56012 dgv5367n71 3 196835453 196942560 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878151,nsv878152 M 6533 0 2 MIR570,MUC20,SDHAP2 SP52053,SP55695 essv12347 3 196864664 197038760 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR570,MUC20,MUC4,SDHAP2 NA19138 dgv1551e1 3 196864664 197104279 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv84,essv3820,essv22060,essv8864,essv24144,essv4362,essv10452,essv2483,essv7332,essv11001,essv11968,essv5553,essv8484,essv3171,essv13638,essv19631,essv3396,essv23199,essv3540,essv16161,essv3450,essv7071,essv12462,essv9417,essv15230,essv20330,essv19097,essv794,essv12844,essv14858,essv13748,essv16471,essv5163,essv18424,essv9631,essv15067,essv15569,essv11503,essv15303,essv17052,essv2525,essv10591,essv4071,essv14458,essv6232,essv4985,essv21773,essv13089,essv17657,essv24524,essv23077,essv8946,essv13930,essv4831,essv8331,essv19792,essv20930,essv10366,essv9106,essv16641,essv23873,essv18098,essv9758,essv21134,essv7039,essv23529,essv18273,essv1415,essv3691,essv20638,essv23142,essv440,essv18957,essv3895,essv5487,essv6839,essv2202,essv3730,essv1101,essv17427,essv2256,essv11846,essv20133,essv10279,essv6311 M 271 0 0 MIR570,MUC20,MUC4,SDHAP2,TNK2 NA06993,NA07055,NA07345,NA10835,NA10846,NA10847,NA11881,NA11993,NA12005,NA12043,NA12154,NA12155,NA12156,NA12236,NA12239,NA12249,NA12801,NA12802,NA12812,NA12814,NA12815,NA12891,NA12892,NA18506,NA18508,NA18515,NA18516,NA18517,NA18522,NA18529,NA18537,NA18540,NA18564,NA18570,NA18573,NA18579,NA18609,NA18612,NA18632,NA18635,NA18636,NA18637,NA18852,NA18854,NA18858,NA18860,NA18862,NA18863,NA18943,NA18944,NA18945,NA18947,NA18952,NA18956,NA18960,NA18961,NA18964,NA18965,NA18966,NA18991,NA18992,NA18994,NA18999,NA19003,NA19012,NA19094,NA19100,NA19120,NA19127,NA19129,NA19137,NA19139,NA19141,NA19142,NA19143,NA19153,NA19172,NA19173,NA19200,NA19201,NA19207,NA19208,NA19221,NA19222,NA19240 dgv1552e1 3 196864664 197158670 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21077,essv3117,essv20209 M 271 0 0 MIR570,MUC20,MUC4,SDHAP2,TNK2 NA06991,NA11832,NA18969 dgv1553e1 3 196864664 197313823 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23837,essv699,essv12533,essv22438,essv1500,essv18061,essv22974,essv9170,essv4787,essv11799,essv20372,essv7380,essv17511,essv4687,essv14603,essv13550,essv14741,essv17633,essv12189,essv6675,essv3059,essv8300,essv8226,essv13678,essv8108,essv4500,essv7853,essv7741,essv15726,essv10650,essv23464,essv21682,essv14184,essv9947,essv10082,essv24876,essv13447,essv18833,essv22599,essv22411,essv17757,essv9103,essv20029,essv16353,essv23823,essv23372,essv14530,essv19207,essv9329,essv19897,essv17292,essv11442,essv25025,essv14328,essv1969,essv10139,essv21412,essv18346,essv10813,essv6635,essv15614,essv16244,essv21268,essv18762,essv19167,essv2025,essv22366,essv22830,essv16950,essv22773,essv21337,essv7303,essv17912,essv3238,essv24743,essv16748,essv8643,essv12666,essv23619,essv11902,essv20625,essv15896,essv16015,essv13157,essv17278,essv11766,essv138,essv23400,essv15537,essv22222,essv24472 M 271 0 0 MIR570,MUC20,MUC4,SDHAP1,SDHAP2,TFRC,TNK2 NA07000,NA07019,NA07022,NA07034,NA07048,NA07056,NA07348,NA07357,NA10830,NA10831,NA10838,NA10839,NA10854,NA10855,NA10860,NA10861,NA11994,NA12003,NA12004,NA12006,NA12044,NA12056,NA12145,NA12248,NA12740,NA12750,NA12751,NA12753,NA12761,NA12762,NA12763,NA12813,NA12865,NA12874,NA12875,NA12878,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18521,NA18542,NA18552,NA18558,NA18592,NA18608,NA18620,NA18621,NA18622,NA18623,NA18853,NA18855,NA18856,NA18857,NA18871,NA18872,NA18912,NA18949,NA18959,NA18968,NA18974,NA18975,NA18980,NA18981,NA19093,NA19098,NA19099,NA19101,NA19102,NA19103,NA19116,NA19119,NA19128,NA19130,NA19131,NA19132,NA19140,NA19144,NA19145,NA19159,NA19160,NA19161,NA19192,NA19193,NA19194,NA19202,NA19206,NA19223,NA19239 esv22821 3 196864698 196963488 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17381,esv14088,esv18326,esv19649,esv20647,esv14914 M 451 5 26 MIR570,MUC20,MUC4,SDHAP2 NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12414,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv878154 3 196886423 196943524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501585 S 6533 0 1 MIR570,MUC20,SDHAP2 SP50984 dgv1554e1 3 196890568 196965419 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3328,essv13313,essv21874,essv10718,essv12014,essv7954,essv16188,essv4352,essv2405,essv2133,essv22702,essv7985,essv17351,essv11609,essv1668,essv10607,essv2927,essv20510,essv186,essv5845,essv625,essv21485,essv3498,essv5436,essv4097,essv23315,essv10965,essv13986,essv4925,essv18484,essv15953,essv7631,essv6423,essv5877,essv6209,essv12909,essv5706,essv13941,essv6537,essv13248,essv2961,essv1579,essv22283,essv17416,essv18804,essv9281,essv22266,essv11075,essv5773,essv17991,essv2767,essv19705,essv9479,essv13255,essv14955,essv11379,essv25117,essv6932,essv6056,essv754,essv1809,essv23112,essv8051,essv12440,essv7242,essv25046,essv19346,essv9293,essv19880,essv24331,essv19142,essv17402,essv14246,essv11362,essv13111,essv7661,essv14025,essv18474,essv11303,essv24359,essv24551,essv19795,essv14823,essv24622,essv21610,essv24028,essv13496,essv713,essv15165,essv16382,essv1989,essv3680,essv2717,essv599,essv25068,essv8976,essv514,essv5667,essv3837,essv14907,essv3909,essv3635,essv1657,essv2419,essv9548,essv999,essv7921,essv3924,essv2744,essv3248,essv3605,essv12869 M 271 0 0 MIR570,MUC20,MUC4,SDHAP2 NA06985,NA06991,NA10830,NA10839,NA10846,NA10856,NA11831,NA11832,NA11881,NA11882,NA11992,NA12004,NA12005,NA12043,NA12155,NA12156,NA12236,NA12248,NA12264,NA12716,NA12760,NA12762,NA12801,NA12812,NA12864,NA12873,NA12892,NA18502,NA18506,NA18507,NA18508,NA18515,NA18517,NA18522,NA18524,NA18529,NA18537,NA18540,NA18542,NA18545,NA18547,NA18550,NA18562,NA18563,NA18603,NA18605,NA18608,NA18611,NA18622,NA18632,NA18635,NA18852,NA18855,NA18858,NA18859,NA18861,NA18862,NA18863,NA18870,NA18914,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18951,NA18952,NA18953,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18969,NA18970,NA18971,NA18972,NA18976,NA18978,NA18992,NA18994,NA18997,NA18998,NA18999,NA19000,NA19003,NA19007,NA19092,NA19098,NA19100,NA19103,NA19127,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19141,NA19152,NA19154,NA19160,NA19172,NA19201,NA19203,NA19207,NA19209,NA19210,NA19211,NA19240 dgv5368n71 3 196895485 196963457 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878158,nsv878155,nsv878156 M 6533 4 0 MIR570,MUC20,MUC4,SDHAP2 SP50043,SP51427,SP56185,SP57518 esv2266152 3 196898630 196899197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4884997 S 1 0 1 SDHAP2 NA18507 esv1494509 3 196898975 196899070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042336 S 2 0 1 SDHAP2 HuRef esv2429380 3 196901677 196961588 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387452 S 1 1 0 MIR570,MUC20,MUC4 NA18507 nsv469606 3 196902844 197038755 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649722 M 265 27 12 Samples from several populations that are part of the HapMap project. MIR570,MUC20,MUC4 nsv471621 3 196902845 197279871 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548782,nssv549518,nssv549519,nssv548775,nssv548778,nssv549524,nssv549521,nssv549515,nssv549516,nssv549520,nssv548773,nssv549517,nssv549523,nssv548774,nssv548772,nssv548785,nssv549525,nssv548781,nssv548777,nssv548783,nssv548784,nssv548776,nssv548779,nssv548780,nssv549522,nssv548786 M 48 9 9 MIR570,MUC20,MUC4,SDHAP1,TFRC,TNK2 JK1051,NA10469,NA10495,NA10970,NA10971,NA10976,NA10979,NA11523,NA15726,NA15727,NA15728,NA15729,NA15731,NA15733,NA16689,NA17015,NA17058,P86GA esv32809 3 196904378 196963502 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101436,essv98726,essv101134,essv100691,essv101047,essv95212,essv95058,essv98319,essv94721,essv94078,essv95577,essv95621,essv95665,essv95430,essv95505,essv95508,essv93127,essv95310,essv95254,essv97308,essv101784,essv95905,essv92879,essv93722,essv96658,essv97235,essv93330,essv94846,essv96498,essv99172,essv97764,essv100128,essv100531,essv100373,essv94226 M 51 11 20 MIR570,MUC20,MUC4 21603,21606,21618,21656,21693,21721,21772,21791,21802,21841,21847,21863,21872,21879,21909,21911,21939,21972,22011,22075,22170,22231,22261,22275,22278,22286,22298,22300,22394 nsv820550 3 196904391 196929635 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420370 S 1 1 0 MIR570 NA10851 nsv829825 3 196904544 197074094 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443304,nssv1443303,nssv1443302,nssv1443305,nssv1443301 M 95 0 5 MIR570,MUC20,MUC4 esv1975660 3 196906586 196906984 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917254 S 1 0 1 "" NA18507 esv5061 3 196906605 196907099 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27502 S 1 0 1 Single Asian sample YH "" YH esv998666 3 196906651 196906788 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584999 S 3 0 1 "" HuRef dgv5369n71 3 196907163 197126305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878163,nsv878157,nsv878162 M 6533 0 3 MIR570,MUC20,MUC4,TNK2 IS37646,MS10311,MS18276 esv2110612 3 196911106 196911562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749704 S 1 0 1 MIR570 NA18507 nsv436932 3 196911173 196942560 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466813 S 60 0 1 Samples from several populations that are part of the HapMap project. MIR570,MUC20 NA12865 esv2453319 3 196911243 196912416 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188766 S 1 1 0 MIR570 NA18507 nsv237215 3 196911347 196911428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255793 M 24 "" nsv515001 3 196913376 196928560 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628496 S 1414 0 0 "" nsv878159 3 196917605 197037656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503981 S 6533 1 0 MUC20,MUC4 SP52147 dgv1555e1 3 196918723 196965419 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1055,essv2563,essv16589,essv8535,essv9503,essv3666,essv7995,essv4522,essv7,essv6068,essv25095,essv18541,essv18781 M 271 0 0 MUC20,MUC4 NA11993,NA12814,NA12891,NA18521,NA18523,NA18621,NA18623,NA18860,NA18945,NA18974,NA18975,NA18991,NA19221 esv2751988 3 196918723 197135746 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988584,essv6982791,essv6986260 M 771 1 0 MUC20,MUC4,TNK2 BEC_593 nsv509876 3 196921378 196927378 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622043 S 4 0 1 "" NA10860 esv9353 3 196922547 196924057 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31794 S 1 0 1 "" SJK esv2307169 3 196923642 196924231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721170 S 1 0 1 "" NA18507 nsv822410 3 196924411 197209962 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435014 S 31 0 1 MUC20,MUC4,SDHAP1,TNK2 NA18942 esv2605738 3 196924880 196927262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219217 S 1 0 1 "" NA18507 esv1985853 3 196925222 196925611 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890142 S 1 0 1 "" NA18507 nsv237071 3 196926376 196926433 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255649 M 24 "" nsv237496 3 196926672 196926975 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256074 M 24 "" esv8588 3 196927679 196927776 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31029 S 1 1 0 "" SJK esv2327972 3 196929544 196930005 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986025 S 1 0 1 "" NA18507 nsv436752 3 196933810 196935072 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466057 S 2 1 0 Samples from several populations that are part of the HapMap project. MUC20 NA18505 nsv878160 3 196935289 197001273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541874 S 6533 1 0 MUC20,MUC4 MS15515 nsv471428 3 196936769 196950211 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548252,nssv548251,nssv548253 M 3 MUC20 nsv237976 3 196937663 196938175 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256554 M 24 MUC20 nsv236267 3 196937883 196938338 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv254845 M 24 MUC20 dgv850n67 3 196940142 196942174 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822411,nsv822412 M 31 0 2 MUC20 AK10,AK12 nsv820762 3 196940142 196942174 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420371 S 1 1 0 MUC20 NA10851 nsv819699 3 196942261 196954940 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418634 S 2 0 1 MUC20 AK1 nsv822413 3 196942466 196952714 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435803 S 31 1 0 MUC20 NA18566 nsv821242 3 196942466 196959923 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420372 S 1 1 0 MUC20,MUC4 NA10851 nsv878161 3 196946221 197001273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538583 S 6533 0 1 MUC20,MUC4 MS13770 nsv237230 3 196950668 196959428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255808 M 24 MUC4 nsv819185 3 196959265 196963755 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419639 S 2 1 0 MUC4 AK1 nsv820414 3 196959924 196963488 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420373 S 1 1 0 MUC4 NA10851 nsv508978 3 196962079 197057282 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619351 S 4 1 0 MUC4 NA10860 esv2322856 3 196967307 196967649 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578036 S 1 0 1 MUC4 NA18507 esv3881 3 196972959 196973321 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26322 S 1 0 1 Single Asian sample YH MUC4 YH esv1459873 3 196973105 196973105 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196271 S 2 1 0 MUC4 HuRef esv1453227 3 196973131 196973131 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338069 S 2 1 0 MUC4 HuRef esv1585265 3 196975188 196975188 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161494 S 2 1 0 MUC4 HuRef nsv4182 3 196978763 197006936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2442,nssv7058,nssv3224 M 9 3 0 MUC4 NA12156,NA12878,NA18555 esv1499327 3 196980097 196980097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4250748 S 2 1 0 MUC4 HuRef esv1446731 3 196980424 196980424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632923 S 2 1 0 MUC4 HuRef nsv820930 3 196983462 196984082 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420374 S 1 1 0 MUC4 NA10851 esv29878 3 196983462 197000002 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10201,esv15819,esv14956 M 451 22 11 MUC4 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 esv1428839 3 196983651 196983651 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655424 S 2 1 0 MUC4 HuRef nsv10382 3 196984295 197001007 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11510,nssv11823,nssv28699,nssv11557,nssv29232,nssv29073,nssv11911,nssv12507,nssv11512,nssv11627,nssv29159,nssv28952,nssv28958,nssv12524,nssv11928,nssv12351,nssv11485,nssv12179,nssv13343,nssv12643,nssv11488,nssv11518,nssv11854,nssv12728,nssv11606,nssv28876,nssv11874,nssv11859,nssv13470 M 31 26 3 Samples from several populations that are part of the HapMap project. MUC4 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv996857 3 196986133 196986194 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577069 S 3 0 1 MUC4 HuRef esv1551542 3 196986141 196986203 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825966 S 2 0 1 MUC4 HuRef nsv821422 3 196987592 196989742 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420375 S 1 0 1 MUC4 NA10851 nsv820583 3 196989743 197000017 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420376 S 1 0 1 MUC4 NA10851 esv988686 3 196990252 196999952 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586352 S 3 1 0 MUC4 HuRef nsv515002 3 196990800 196991856 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628497 S 1414 0 0 MUC4 esv1966404 3 196991590 196991935 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825224 S 1 0 1 MUC4 NA18507 esv989398 3 196995748 196995843 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581784 S 3 0 1 MUC4 HuRef esv1010595 3 196996266 196996964 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564511 S 3 1 0 MUC4 HuRef esv1318167 3 196996387 196996387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253286 S 2 1 0 MUC4 HuRef esv988433 3 196997531 196999402 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581672 S 3 0 1 MUC4 HuRef dgv1556e1 3 197006017 197313823 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11275,essv9656,essv16857 M 271 0 0 MUC4,SDHAP1,TFRC,TNK2 NA18913,NA19204,NA19205 dgv5370n71 3 197007087 197091167 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878165,nsv878164 M 6533 0 4 MUC4,TNK2 IS32841,IS33504,IS39233,MS17208 esv1002225 3 197023712 197023712 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573304 S 3 1 0 "" HuRef esv1425481 3 197023769 197023769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364888 S 2 1 0 "" HuRef esv1688476 3 197027414 197027549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832406 S 2 0 1 "" HuRef esv1607134 3 197028630 197028630 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881053 S 2 1 0 "" HuRef nsv878167 3 197034763 197121836 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528180 S 6533 1 0 TNK2 SP81149 dgv5371n71 3 197034763 197128729 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878166,nsv878168 M 6533 0 2 TNK2 MS10769,SP54956 nsv513106 3 197053076 197054440 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626596 S 1 0 1 "" 1 esv6979 3 197053600 197054337 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29420 S 1 0 1 "" SJK nsv878169 3 197055421 197113033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576886 S 6533 0 1 TNK2 IS34304 esv2626382 3 197069330 197069594 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238869 S 1 0 1 "" NA18507 esv28378 3 197085690 197086725 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17137 S 451 1 0 TNK2 NA12239 esv1214939 3 197086178 197086577 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156869 S 2 0 1 TNK2 HuRef nsv829827 3 197093263 197245226 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443311,nssv1443310,nssv1443306,nssv1443308,nssv1443309 M 95 1 4 SDHAP1,TNK2 nsv469518 3 197108119 197279871 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649714 M 265 10 27 Samples from several populations that are part of the HapMap project. SDHAP1,TFRC,TNK2 esv22999 3 197120055 197121167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15170 S 451 0 1 TNK2 NA07045 esv270922 3 197132263 197132448 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510294,essv2496672,essv2500180,essv2495312,essv2508333,essv2502955,essv2496248,essv2493594,essv2498486,essv2505921,essv2495712,essv2493040,essv2502607,essv2512814,essv2505576,essv2497597 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA12006,NA12287,NA12749,NA18507,NA18511,NA18517,NA18858,NA18861,NA18916,NA18951,NA18965,NA18980,NA19005,NA19147 nsv10385 3 197135361 197224203 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11919,nssv11889,nssv11548 M 31 0 2 Samples from several populations that are part of the HapMap project. SDHAP1 NA12740,NA19144 nsv513107 3 197138352 197139846 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626597 S 1 0 1 "" 1 esv4556 3 197138747 197139850 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26997 S 1 0 1 Single Asian sample YH "" YH esv27896 3 197147159 197218236 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17805,esv20134 M 451 1 5 SDHAP1 NA11995,NA12776,NA18505,NA18916,NA19190,NA19257 nsv820779 3 197147159 197218236 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420377 S 1 1 0 SDHAP1 NA10851 esv2239708 3 197151355 197152031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688311 S 1 0 1 "" NA18507 esv2260962 3 197156009 197156682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748676 S 1 0 1 "" NA18507 nsv436000 3 197159817 197162391 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466059 S 2 1 0 "" NA15510 nsv511234 3 197162292 197202143 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624500 S 1 0 1 SDHAP1 1 nsv878170 3 197162292 197355785 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600952 S 6533 1 0 LOC401109,SDHAP1,TFRC IS41949 nsv878171 3 197162292 197444321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579532 S 6533 1 0 LOC401109,OSTalpha,SDHAP1,TFRC,ZDHHC19 IS35127 nsv236514 3 197211317 197211651 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255092 M 24 "" nsv878172 3 197236250 197315495 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523743 S 6533 1 0 TFRC SP54177 esv269849 3 197246127 197246212 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518009,essv2519363 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12872 nsv820015 3 197255096 197260612 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419713 S 2 0 1 TFRC AK1 dgv851n67 3 197258135 197259160 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822415,nsv822414 M 31 0 20 "" AK16,AK18,AK2,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18947,NA18951,NA18969,NA18973,NA18997,NA18999 esv1010060 3 197258387 197259160 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587071 S 3 1 0 "" HuRef esv27204 3 197258567 197259125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11241 S 451 0 1 "" NA19114 esv1005544 3 197258590 197259111 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586701 S 3 1 0 "" HuRef nsv524410 3 197260637 197300592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700332 S 2026 1 0 TFRC nsv10386 3 197263133 197264664 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28982,nssv11540,nssv12209 M 31 0 3 Samples from several populations that are part of the HapMap project. TFRC NA10847,NA18853,NA19173 esv274570 3 197283956 197284041 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581140 S 7 1 0 Samples from several populations that are part of the HapMap project. TFRC NA19240 esv990176 3 197308159 197308159 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578742 S 3 1 0 "" HuRef esv1097521 3 197308171 197308171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742238 S 2 1 0 "" HuRef esv2423097 3 197309950 197311890 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374763 S 1 0 1 "" NA18507 esv1575472 3 197310302 197310422 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959040 S 2 0 1 "" HuRef esv1227807 3 197310459 197310764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621168 S 2 0 1 "" HuRef esv1131671 3 197310831 197311041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983589 S 2 0 1 "" HuRef esv1034848 3 197311473 197311473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807986 S 2 1 0 "" HuRef esv994522 3 197313916 197315866 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564778 S 3 1 0 "" HuRef esv2088895 3 197314602 197315153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731094 S 1 0 1 "" NA18507 esv1580329 3 197314860 197314860 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305584 S 2 1 0 "" HuRef nsv878173 3 197332661 197374023 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523744 S 6533 1 0 LOC401109 SP54177 nsv878174 3 197343284 197433938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530486 S 6533 0 1 LOC401109,OSTalpha,ZDHHC19 MS10311 nsv509877 3 197384329 197390329 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622044 S 4 0 1 "" NA10860 esv1994365 3 197384385 197384716 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939086 S 1 0 1 "" NA18507 esv1386725 3 197384524 197384618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272828 S 2 0 1 "" HuRef nsv878175 3 197392050 197457641 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585821 S 6533 0 1 OSTalpha,PCYT1A,ZDHHC19 IS37646 esv32936 3 197400442 197425224 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98796 S 51 1 0 ZDHHC19 21606 nsv878176 3 197410631 197444321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556855 S 6533 1 0 OSTalpha,ZDHHC19 MS22227 nsv878177 3 197413665 197433938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506436 S 6533 0 1 OSTalpha,ZDHHC19 SP54350 dgv5372n71 3 197413665 197504077 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878178,nsv878179 M 6533 2 0 OSTalpha,PCYT1A,TCTEX1D2,ZDHHC19 MS23031,SP54177 dgv5373n71 3 197430932 197556839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878181,nsv878180 M 6533 2 0 OSTalpha,PCYT1A,TCTEX1D2,TM4SF19,TM4SF19-TCTEX1D2 IS30742,IS41806 nsv10387 3 197433420 197436569 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29012 S 31 0 1 Samples from several populations that are part of the HapMap project. OSTalpha NA10847 nsv521280 3 197433938 197439869 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697883 S 2026 0 1 OSTalpha esv26725 3 197434008 197435081 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17193 S 451 0 2 OSTalpha NA07045,NA12239 nsv878182 3 197458578 197712757 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597785 S 6533 0 1 PCYT1A,RNF168,TCTEX1D2,TM4SF19,TM4SF19-TCTEX1D2,UBXN7 IS41317 nsv518925 3 197486464 197489841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696386 S 2026 0 1 PCYT1A nsv4183 3 197518464 197563506 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7913 S 9 0 1 TCTEX1D2,TM4SF19,TM4SF19-TCTEX1D2 NA12156 nsv509878 3 197537789 197543789 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622045,nssv623932 M 4 0 2 TM4SF19,TM4SF19-TCTEX1D2 NA10860,NA18994 nsv513108 3 197540047 197542254 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626598 S 1 0 1 TM4SF19,TM4SF19-TCTEX1D2 1 esv4542 3 197540204 197541518 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26983 S 1 0 1 Single Asian sample YH TM4SF19,TM4SF19-TCTEX1D2 YH esv2370851 3 197545965 197546393 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602968 S 1 0 1 TM4SF19,TM4SF19-TCTEX1D2 NA18507 esv26108 3 197546152 197546742 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21132 S 451 1 0 TM4SF19,TM4SF19-TCTEX1D2 NA15510 esv1444129 3 197546163 197546163 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724657 S 2 1 0 TM4SF19,TM4SF19-TCTEX1D2 HuRef nsv469831 3 197556000 197719622 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649852 M 265 0 0 Samples from several populations that are part of the HapMap project. C3orf43,RNF168,UBXN7 nsv878183 3 197556839 197665625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570691 S 6533 0 1 UBXN7 IS32322 esv2498896 3 197560902 197562278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353567 S 1 0 1 "" NA18507 esv32642 3 197603216 197638258 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100101 S 51 0 1 UBXN7 22086 dgv5374n71 3 197643170 197683601 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878185,nsv878184 M 6533 7 0 RNF168,UBXN7 MS10722,MS10994,MS13408,MS14209,MS17056,MS21709,MS23194 nsv878186 3 197643170 197704191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523746 S 6533 1 0 RNF168,UBXN7 SP54177 nsv527402 3 197652498 197672005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703838 S 2026 0 1 "" esv9269 3 197657145 197659933 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31710 S 1 0 1 "" SJK esv2612229 3 197672106 197673789 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209208 S 1 0 1 "" NA18507 esv25773 3 197672435 197675014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20682 S 451 0 6 "" NA12828,NA18502,NA18909,NA19108,NA19147,NA19190 nsv10388 3 197672542 197675052 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12554,nssv11578 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19144 esv2223974 3 197672571 197673017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659556 S 1 0 1 "" NA18507 nsv236910 3 197672749 197672749 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255488 M 24 "" esv1592549 3 197672877 197672965 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785390 S 2 0 1 "" HuRef nsv10389 3 197686716 197691188 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11475,nssv11904 M 31 0 2 Samples from several populations that are part of the HapMap project. RNF168 NA18537,NA18975 nsv822416 3 197687262 197689589 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439615 S 31 0 1 RNF168 NA18537 esv2053432 3 197722245 197722638 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568454 S 1 0 1 C3orf43 NA18507 dgv5375n71 3 197730000 198039187 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878187,nsv878188 M 6533 2 0 CEP19,FBXO45,LRRC33,PAK2,PIGX,WDR53 IS35127,SP54177 nsv829828 3 197752518 197948038 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443313,nssv1443312,nssv1443314 M 95 0 3 CEP19,FBXO45,LRRC33,PIGX,WDR53 esv2511105 3 197753494 197754935 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169917 S 1 0 1 "" NA18507 esv991315 3 197836953 197837012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579104 S 3 0 1 "" HuRef esv1685820 3 197837073 197837133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743926 S 2 0 1 "" HuRef nsv237010 3 197837074 197837133 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255588 M 24 "" esv1284197 3 197846150 197846150 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092312 S 2 1 0 "" HuRef nsv878189 3 197864313 197936490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549647 S 6533 0 1 CEP19,LRRC33,PIGX MS18276 esv2207161 3 197874326 197874767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938659 S 1 0 1 "" NA18507 nsv237691 3 197874499 197874551 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256269 M 24 "" esv1000307 3 197874536 197874588 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582714 S 3 0 1 "" HuRef nsv10390 3 197901550 197904246 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12788 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12155 nsv822417 3 197908806 197911613 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437373 S 31 1 0 "" NA18949 nsv878190 3 197926529 197983893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514681,nssv1503646 M 6533 0 2 PAK2,PIGX SP52093,SP56047 nsv524832 3 197938416 197946898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700833 S 2026 0 1 PIGX nsv829829 3 197959126 198098328 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443316,nssv1443317,nssv1443315 M 95 0 3 PAK2,SENP5 nsv510945 3 198009046 198024852 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618643 S 4 0 0 PAK2 CHM nsv4184 3 198015267 198038629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4713,nssv9877 M 9 2 0 PAK2 NA18507,NA19129 nsv515003 3 198019136 198046272 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628498 S 1414 0 0 PAK2 nsv508979 3 198022250 198024852 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619352,nssv623402 M 4 2 0 PAK2 NA10860,NA18994 esv1008888 3 198022537 198022969 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565158 S 3 1 0 PAK2 HuRef esv29668 3 198038418 198043973 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19914,esv12080 M 451 3 1 PAK2 NA07037,NA12878,NA15510,NA18861 esv2102177 3 198039053 198039411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823541 S 1 0 1 PAK2 NA18507 nsv10391 3 198039365 198044804 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11587,nssv11941,nssv12537,nssv11542 M 31 2 2 Samples from several populations that are part of the HapMap project. PAK2 NA11830,NA18942,NA19132,NA19240 dgv852n67 3 198039532 198043773 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822418,nsv822419 M 31 2 0 PAK2 NA18968,NA18973 esv999373 3 198039632 198041750 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586279 S 3 0 1 PAK2 HuRef esv2444877 3 198049744 198051995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230402 S 1 0 1 "" NA18507 esv269151 3 198085459 198085797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514587,essv2514960,essv2516326,essv2515815,essv2517304 M 157 5 0 Samples from several populations that are part of the HapMap project. SENP5 NA11840,NA12812,NA12814,NA18969,NA18970 dgv87n16 3 198110076 198110141 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436870,nsv436075 M 2 2 0 SENP5 NA15510,NA18505 nsv819558 3 198147903 198148264 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418893 S 2 0 1 NCBP2 AK1 nsv822421 3 198161095 198238716 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435015 S 31 0 1 MFI2,MFI2-AS1,PIGZ NA18942 nsv878191 3 198172424 198241861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509807 S 6533 0 1 MFI2,MFI2-AS1,PIGZ SP54956 esv29616 3 198179878 198181170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19001 S 451 0 1 PIGZ NA07045 nsv4185 3 198181748 198212123 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10387 S 9 1 0 "" NA18956 esv1777419 3 198185085 198185085 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024129 S 2 1 0 "" HuRef nsv517987 3 198201710 198235238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695399 S 2026 0 1 MFI2,MFI2-AS1 nsv878192 3 198201710 198244995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523748 S 6533 1 0 MFI2,MFI2-AS1 SP54177 esv29143 3 198213420 198215177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12180 S 451 0 1 MFI2,MFI2-AS1 NA07045 nsv822422 3 198217941 198218417 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438749 S 31 0 1 MFI2 NA18973 esv3640 3 198241388 198241838 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26081 S 1 0 1 Single Asian sample YH "" YH nsv10392 3 198243252 198246539 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11515 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 esv28149 3 198243568 198246510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12539 S 451 0 4 "" NA18505,NA18517,NA19147,NA19257 esv1929445 3 198243591 198244162 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608673 S 1 0 1 "" NA18507 esv5683 3 198243647 198244134 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28124 S 1 0 1 "" SJK esv5476 3 198243835 198245013 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27917 S 1 0 1 "" SJK esv2324477 3 198244216 198244864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909880 S 1 0 1 "" NA18507 nsv237775 3 198244557 198245812 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256353 M 24 "" esv1735716 3 198245500 198245620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064873 S 2 0 1 "" HuRef esv1015613 3 198245658 198246258 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657413 S 2 0 1 "" HuRef dgv5376n71 3 198246042 198469993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878193,nsv878194 M 6533 0 2 DLG1 IS30378,MS15749 nsv878195 3 198246042 198547705 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523749 S 6533 1 0 DLG1,LOC100507086,MIR4797 SP54177 nsv878196 3 198246042 198851029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579534 S 6533 1 0 BDH1,DLG1,LOC100507086,LOC220729,MIR4797 IS35127 nsv461132 3 198278255 198394479 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537573 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DLG1 HGDP00529 nsv516873 3 198278255 198511324 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663029,nssv654612,nssv695205,nssv701204 M 2026 2 2 DLG1,LOC100507086,MIR4797 esv2425210 3 198295222 198296608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368590 S 1 0 1 DLG1 NA18507 nsv461133 3 198318047 198469993 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537574 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DLG1 HGDP00533 nsv878197 3 198322883 198469993 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581707,nssv1585449,nssv1564018 M 6533 1 2 DLG1 IS30146,IS35701,IS37458 dgv1557e1 3 198339450 198528164 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24061,essv1490,essv13920,essv3050,essv2785,essv24710,essv6127,essv21782,essv10100,essv18291,essv22970,essv18397,essv19011,essv18068,essv12232,essv8938,essv19276,essv22521,essv23080,essv14550,essv254,essv24836,essv4723,essv16242,essv21192,essv15700,essv9679,essv12715,essv17959,essv22831,essv23147,essv24132,essv13531,essv15873,essv2206 M 271 0 0 DLG1,LOC100507086,MIR4797 NA07000,NA07357,NA10838,NA10846,NA10847,NA10859,NA11829,NA11830,NA11882,NA12003,NA12004,NA12005,NA12145,NA12239,NA12249,NA12812,NA12891,NA18532,NA18620,NA18854,NA18912,NA18913,NA18914,NA18948,NA18960,NA18980,NA18981,NA18987,NA19101,NA19130,NA19160,NA19161,NA19200,NA19202,NA19223 nsv428431 3 198339450 198528164 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454339,nssv454341,nssv454336,nssv454340,nssv454337,nssv454338 M 62 5 1 DLG1,LOC100507086,MIR4797 HGDP00449,HGDP00450,HGDP00462,HGDP00471,NA19108,NA19113 dgv1558e1 3 198339450 198982265 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv564,essv10312 M 271 0 0 BDH1,DLG1,FYTTD1,KIAA0226,LOC100507086,LOC220729,MIR4797,MIR922 NA18506 esv2580756 3 198364497 198365964 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227804 S 1 0 1 DLG1 NA18507 nsv829830 3 198372276 198565291 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443319 S 95 1 0 DLG1,LOC100507086,MIR4797 dgv635n27 3 198394479 198828573 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461134,nsv461135 M 1557 2 0 BDH1,DLG1,LOC100507086,LOC220729,MIR4797 HGDP00572,HGDP00574 nsv471149 3 198394479 198832487 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544732,nssv544710,nssv544721,nssv544699 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BDH1,DLG1,LOC100507086,LOC220729,MIR4797 HGDP00572,HGDP00574,HGDP00662,HGDP00789 nsv10393 3 198417484 198426944 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12492,nssv12673,nssv29103,nssv12381,nssv12818,nssv11617,nssv12567,nssv28906,nssv28739,nssv11958,nssv11971,nssv11545,nssv11572,nssv12584,nssv11506,nssv11934,nssv11657,nssv12239,nssv13500,nssv11608,nssv11505,nssv29189,nssv29042,nssv11636,nssv11570 M 31 25 0 Samples from several populations that are part of the HapMap project. DLG1 NA07029,NA10847,NA10863,NA11830,NA12155,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv4186 3 198417550 198453962 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3225 S 9 0 1 DLG1 NA12878 nsv822423 3 198418321 198423901 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435804,nssv1421632,nssv1428977,nssv1425241 M 31 0 4 DLG1 AK12,NA18566,NA18968,NA18997 nsv819059 3 198418811 198422778 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419595 S 2 1 0 DLG1 AK1 esv28260 3 198418967 198423748 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15852 S 451 28 1 DLG1 NA06985,NA11894,NA11931,NA11995,NA12006,NA12156,NA12239,NA12414,NA12749,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821583 3 198418967 198423901 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420378 S 1 0 1 DLG1 NA10851 nsv878198 3 198426482 198511324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501290 S 6533 0 1 DLG1,LOC100507086,MIR4797 SP50725 nsv878199 3 198485405 198511324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499294 S 6533 0 1 DLG1,LOC100507086,MIR4797 SP50649 nsv818205 3 198502522 198511324 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417323 S 112 1 0 DLG1,LOC100507086,MIR4797 NA18608 nsv461136 3 198519382 198818926 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537577 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BDH1 HGDP00966 nsv523679 3 198537370 198539355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699483 S 2026 0 1 "" nsv508981 3 198541914 198638754 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619353,nssv623403,nssv620780 M 4 3 0 "" NA10860,NA15510,NA18994 nsv10394 3 198568097 198573050 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11600 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv10396 3 198583939 198588348 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13530 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 esv27632 3 198595367 198604792 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11881 S 451 1 3 "" NA07037,NA11894,NA18502,NA19108 esv1242316 3 198599461 198599461 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730487 S 2 1 0 "" HuRef esv2056681 3 198599525 198599974 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4704085 S 1 0 1 "" NA18507 esv5870 3 198601840 198601917 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28311 S 1 0 1 "" SJK nsv237927 3 198602286 198603517 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256505 M 24 "" nsv878200 3 198633381 198656649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523750 S 6533 1 0 "" SP54177 dgv5377n71 3 198639494 198889422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878202,nsv878201 M 6533 2 0 BDH1,KIAA0226,LOC220729,MIR922 MS24172,SP81348 nsv10397 3 198646717 198650305 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13560,nssv11575,nssv12703 M 31 2 1 Samples from several populations that are part of the HapMap project. "" NA18504,NA18980,NA19221 esv28354 3 198647325 198649915 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19600 S 451 10 0 "" NA12749,NA12776,NA18505,NA18508,NA18523,NA19099,NA19108,NA19147,NA19190,NA19240 nsv820450 3 198647325 198649915 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420379 S 1 0 1 "" NA10851 esv1093214 3 198647372 198648662 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722486 S 2 0 1 "" HuRef nsv4189 3 198649761 198683366 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3226,nssv10388,nssv7061,nssv2443 M 9 4 0 "" NA12156,NA12878,NA18555,NA18956 nsv508982 3 198657441 198809315 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619354 S 4 1 0 BDH1 NA10860 dgv1559e1 3 198660216 198819678 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8792,essv11831,essv13934 M 271 0 0 BDH1 NA18508,NA18521,NA18854 dgv1560e1 3 198660216 198982265 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10078,essv16020,essv16998,essv4767,essv14642,essv9905,essv12686,essv11770 M 271 0 0 BDH1,FYTTD1,KIAA0226,LOC220729,MIR922 NA18500,NA18501,NA18504,NA18620,NA19093,NA19099,NA19144,NA19145 esv1507838 3 198666294 198666294 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099085 S 2 1 0 "" HuRef esv1009499 3 198667781 198670854 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564029 S 3 1 0 "" HuRef nsv10398 3 198670248 198672725 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29072,nssv11853,nssv13373,nssv11638,nssv12614,nssv12411,nssv28988,nssv12001,nssv12848,nssv28777,nssv12597,nssv12733,nssv11884,nssv11602,nssv11949,nssv12269,nssv11647 M 31 4 13 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18860,NA18942,NA18972,NA19132,NA19144,NA19173,NA19240 esv2614175 3 198670312 198671827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306315 S 1 0 1 "" NA18507 esv7919 3 198670649 198671138 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30360 S 1 0 1 "" SJK esv29366 3 198670680 198671612 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19727 S 451 2 4 "" NA11993,NA18858,NA18907,NA18916,NA19129,NA19147 esv1512991 3 198670785 198670785 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612394 S 2 1 0 "" HuRef esv1076118 3 198671171 198671400 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612006 S 2 0 1 "" HuRef nsv428433 3 198719327 198982265 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454348,nssv454344,nssv454347,nssv454350,nssv454345,nssv454351,nssv454346,nssv454349 M 62 1 7 BDH1,FYTTD1,KIAA0226,LOC220729,MIR922 HGDP00449,HGDP00462,HGDP00463,HGDP00473,NA18916,NA19096,NA19113,NA19257 nsv10399 3 198728351 198730981 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11964 S 31 1 0 Samples from several populations that are part of the HapMap project. BDH1 NA18975 esv29640 3 198728536 198730361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11122 S 451 0 1 BDH1 NA07037 esv1013303 3 198728922 198728974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019804 S 2 0 1 BDH1 HuRef esv1109840 3 198729420 198729637 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784298 S 2 0 1 BDH1 HuRef esv1436400 3 198729666 198729774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041441 S 2 0 1 BDH1 HuRef esv1448451 3 198729802 198730125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990582 S 2 0 1 BDH1 HuRef nsv878203 3 198738628 198790909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500608 S 6533 1 0 BDH1 SP50119 nsv878204 3 198765490 199003613 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581159 S 6533 1 0 BDH1,FYTTD1,KIAA0226,LOC220729,LRCH3,MIR922 IS35516 essv11975 3 198768147 198819674 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BDH1 NA18517 dgv1561e1 3 198768147 198982265 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2047,essv22581,essv69,essv13134,essv13728,essv10152,essv23427,essv21262,essv6670,essv8141,essv15818,essv20087,essv23776,essv9241,essv24886,essv23378,essv19254,essv18850,essv16340,essv19911,essv14336,essv17807,essv18353,essv10833,essv23463,essv19185,essv16251,essv22769,essv17889,essv18775,essv17638,essv21379,essv1516,essv22356,essv14695,essv25014,essv1960,essv8604,essv17254,essv15456 M 271 0 0 BDH1,FYTTD1,KIAA0226,LOC220729,MIR922 NA07000,NA07019,NA07034,NA07048,NA07348,NA10831,NA10838,NA10839,NA10854,NA10855,NA11994,NA12003,NA12740,NA12750,NA12751,NA12753,NA12763,NA12813,NA12865,NA12874,NA12875,NA18503,NA18505,NA18608,NA18871,NA18949,NA18959,NA18980,NA18991,NA19102,NA19119,NA19128,NA19130,NA19159,NA19161,NA19193,NA19194,NA19206,NA19223,NA19239 nsv507146 3 198772683 198778683 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617623 S 4 1 0 BDH1 CHM essv9861 3 198774555 198804219 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. BDH1 NA19144 nsv10400 3 198791534 198799414 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11668 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 esv28132 3 198791727 198798907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15573,esv19533 M 451 0 3 "" NA07037,NA18508,NA19114 esv2421977 3 198791842 198799219 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067859,essv5074051,essv5113271,essv5142589,essv5009856,essv5123343,essv5118150,essv5095183,essv5104050,essv5026360,essv5111648,essv5046326,essv5137508,essv5095391,essv5059904,essv5041767,essv5061076,essv5077149,essv5147207,essv5073463,essv5134541,essv5099272,essv5020227,essv5008507,essv5026606,essv5124204,essv5049157,essv5128914,essv5082668,essv5045397,essv5046436,essv5085383,essv5155766,essv5053468,essv5138666,essv5068205,essv5018296,essv5080930,essv5031250,essv5017434,essv5153333,essv5048682,essv5088029,essv5146451,essv5043020,essv5025517,essv5126047,essv5069116,essv5075459,essv5108501,essv5081710,essv5124671,essv5065920,essv5062399,essv5108695,essv5016528 M 1184 0 56 "" NA18500,NA18501,NA18506,NA18508,NA18520,NA18868,NA18869,NA18870,NA19041,NA19046,NA19095,NA19114,NA19115,NA19144,NA19184,NA19197,NA19224,NA19226,NA19248,NA19321,NA19360,NA19385,NA19394,NA19429,NA19434,NA19436,NA19449,NA19462,NA19625,NA19711,NA19714,NA19982,NA19983,NA19985,NA20129,NA20336,NA20337,NA21303,NA21356,NA21370,NA21400,NA21414,NA21435,NA21441,NA21454,NA21473,NA21479,NA21486,NA21487,NA21573,NA21577,NA21611,NA21619,NA21719,NA21768,NA21825 essv14682 3 198792122 198804219 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19145 nsv441854 3 198792686 198798533 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517776 3 198795025 198798845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667153,nssv682497,nssv670251,nssv692349,nssv681200,nssv653212,nssv685563,nssv663402,nssv689585,nssv667069,nssv659204,nssv657167,nssv687299,nssv677096 M 2026 0 14 "" nsv829831 3 198811054 198981721 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443321,nssv1443320,nssv1443322,nssv1443323 M 95 0 4 FYTTD1,KIAA0226,LOC220729,MIR922 nsv10401 3 198818514 198878945 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11979,nssv11536,nssv12627,nssv12644,nssv12793,nssv11535,nssv12657 M 31 0 6 Samples from several populations that are part of the HapMap project. LOC220729 NA12740,NA18504,NA18517,NA18537,NA18552,NA19132 esv29745 3 198829047 198878852 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14575,esv19208 M 451 0 8 LOC220729 NA11993,NA11995,NA12878,NA18505,NA18916,NA19190,NA19225,NA19257 nsv820579 3 198829047 198878852 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420381 S 1 1 0 LOC220729 NA10851 nsv511229 3 198831368 198862342 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624444 S 1 0 1 LOC220729 1 nsv508983 3 198835150 198948606 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623404,nssv619355 M 4 2 0 KIAA0226,LOC220729,MIR922 NA10860,NA18994 esv2150801 3 198856343 198856968 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568184 S 1 0 1 "" NA18507 esv33779 3 198858281 198871655 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96648,essv99896 M 51 1 1 "" 22011,22086 nsv511212 3 198865601 198877642 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626687 S 1 0 1 "" 1 esv990771 3 198870100 198870219 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583130 S 3 0 1 "" HuRef esv25937 3 198889608 198891868 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16689 S 451 0 1 KIAA0226 NA12828 esv995678 3 198939257 198939257 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581437 S 3 1 0 KIAA0226 HuRef esv1514481 3 198939436 198939436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173437 S 2 1 0 KIAA0226 HuRef nsv236569 3 198939456 198939456 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv255147 M 24 KIAA0226 nsv878205 3 198944899 199079364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576170 S 6533 0 1 FYTTD1,KIAA0226,LRCH3 IS33894 nsv829832 3 198947455 199131632 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443324 S 95 0 1 FYTTD1,IQCG,KIAA0226,LRCH3 nsv10402 3 198952771 198955377 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13403 S 31 1 0 Samples from several populations that are part of the HapMap project. KIAA0226 NA18972 esv2751989 3 198959837 199318155 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988911,essv6985254,essv6985253,essv6987193 M 771 1 0 FYTTD1,IQCG,KIAA0226,LMLN,LOC348840,LRCH3,RPL35A SPC_13 esv24396 3 198970157 198973026 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12131 S 451 0 3 FYTTD1 NA12156,NA12828,NA18909 dgv5378n71 3 198987300 199088642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878209,nsv878210,nsv878207,nsv878206 M 6533 11 0 FYTTD1,LRCH3 IS33863,IS33890,IS34128,IS34714,IS35558,IS37346,IS37744,IS38439,IS40739,MS10535,MS21538 nsv878208 3 198987300 199113490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571822 S 6533 1 0 FYTTD1,IQCG,LRCH3 IS32822 nsv519682 3 199035808 199045408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696990 S 2026 0 1 LRCH3 nsv878211 3 199049392 199119155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591030 S 6533 1 0 IQCG,LRCH3 IS38621 nsv527527 3 199053956 199298372 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703984 S 2026 1 0 IQCG,LMLN,LOC348840,LRCH3,RPL35A esv2049335 3 199068254 199068606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820157 S 1 0 1 LRCH3 NA18507 esv2605459 3 199074970 199076526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218753 S 1 0 1 LRCH3 NA18507 esv26593 3 199088132 199088922 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17557 S 451 10 0 "" NA18502,NA18517,NA18858,NA18861,NA18907,NA19099,NA19114,NA19129,NA19147,NA19190 nsv821095 3 199088132 199088922 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420382 S 1 0 1 "" NA10851 esv1243347 3 199088224 199088404 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202245 S 2 0 1 "" HuRef nsv878212 3 199096417 199149996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516894 S 6533 1 0 IQCG SP56971 dgv5379n71 3 199119920 199251908 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878214,nsv878213 M 6533 2 0 IQCG,LMLN,RPL35A IS34714,MS18406 esv1943012 3 199132107 199132629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872273 S 1 0 1 IQCG NA18507 esv2408312 3 199132159 199132843 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551948 S 1 0 1 IQCG NA18507 nsv238027 3 199145469 199148737 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv256605 M 24 IQCG nsv878215 3 199160600 199251343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597445 S 6533 0 1 IQCG,LMLN,RPL35A IS41317 nsv878216 3 199160600 199306150 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547861 S 6533 1 0 IQCG,LMLN,LOC348840,RPL35A MS17605 dgv5380n71 3 199173607 199224476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878217,nsv878219 M 6533 0 2 LMLN IS31045,IS32167 nsv878218 3 199173607 199267025 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529537 S 6533 1 0 LMLN SP81571 esv33797 3 199195694 199379595 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101169,essv101220,essv93928,essv100849,essv96799,essv96815,essv95091,essv95222,essv94746,essv94056,essv101295,essv97944,essv95739,essv95486,essv95493,essv95563,essv93116,essv95262,essv97348,essv101637,essv95886,essv94582,essv92987,essv92787,essv92808,essv96147,essv96619,essv97255,essv98546,essv99901,essv96053,essv93440,essv93228,essv94924,essv92506,essv92582,essv99344,essv97750,essv100558 M 51 30 7 FAM157A,LMLN,LOC348840 21618,21634,21656,21659,21721,21791,21802,21805,21837,21841,21847,21863,21872,21879,21909,21911,21932,21939,21944,22007,22011,22075,22085,22086,22127,22128,22170,22231,22233,22275,22278,22298 nsv878220 3 199209081 199244182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574059,nssv1529921 M 6533 0 2 LMLN IS33507,MS10126 nsv10403 3 199214441 199219645 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12687,nssv29102,nssv11630,nssv11666,nssv12522,nssv11883,nssv13590,nssv11605,nssv11914,nssv13463 M 31 2 8 Samples from several populations that are part of the HapMap project. LMLN NA07048,NA10839,NA10847,NA18502,NA18853,NA18972,NA18980,NA19007,NA19132,NA19221 nsv513109 3 199214537 199217067 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626600 S 1 0 1 LMLN 1 esv1010170 3 199214790 199216551 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586189 S 3 0 1 LMLN HuRef esv26014 3 199214816 199216617 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17926 S 451 1 1 LMLN NA07045,NA18858 nsv821565 3 199214816 199216617 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420383 S 1 0 1 LMLN NA10851 esv1531702 3 199215569 199216345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3673433 S 2 0 1 LMLN HuRef nsv10404 3 199216527 199227585 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11913 S 31 1 0 Samples from several populations that are part of the HapMap project. LMLN NA07048 nsv471160 3 199219277 199298372 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544743 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LMLN,LOC348840 HGDP00620 esv24855 3 199222212 199227128 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12229 S 451 0 6 LMLN NA07037,NA12828,NA15510,NA18502,NA18909,NA19108 dgv5381n71 3 199247020 199364839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878225,nsv878227,nsv878221,nsv878222,nsv878223 M 6533 6 0 FAM157A,LMLN,LOC348840 IS41724,MS12432,MS23587,SP52060,SP58236,SP81265 esv2126673 3 199249041 199249486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922083 S 1 0 1 LMLN NA18507 dgv1562e1 3 199256812 199446827 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10079,essv16122,essv12265,essv12786,essv22985,essv11641,essv14311,essv14503,essv9219,essv10904,esv192,essv9394,essv10655,essv23937,essv8120,essv10758,essv15859,essv11172,essv15500 M 271 0 0 FAM157A,LOC348840 NA07357,NA12814,NA18505,NA18523,NA18853,NA18855,NA19099,NA19100,NA19101,NA19120,NA19128,NA19154,NA19194,NA19202,NA19206,NA19209,NA19211,NA19223 nsv878224 3 199260155 199308268 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539184 S 6533 1 0 LOC348840 MS14250 dgv5382n71 3 199264624 199322659 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878226,nsv878230,nsv878228 M 6533 3 0 LOC348840 IS31479,SP56104,SP81571 nsv878229 3 199278681 199318588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591818,nssv1588180 M 6533 0 2 LOC348840 IS38176,IS39046 dgv5383n71 3 199278681 199364839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878231,nsv878232 M 6533 5 0 FAM157A,LOC348840 MS10535,MS13408,MS23079,SP55407,SP58404 nsv508269 3 199297834 199343422 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622477,nssv617485 M 4 0 2 "" CHM,NA18994 nsv508984 3 199297834 199343422 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620781 S 4 1 0 "" NA15510 nsv433421 3 199303484 199310226 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463302 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18507 nsv4190 3 199308016 199328021 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2444 S 9 0 1 "" NA18555 nsv511226 3 199308268 199318155 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624411 S 1 0 1 "" 1 nsv10405 3 199309602 199318036 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12471,nssv11994,nssv29018,nssv29133,nssv11687,nssv12299,nssv11943,nssv11698,nssv12674,nssv12009,nssv29219,nssv12031,nssv11635,nssv11988,nssv13493,nssv29132,nssv11660,nssv12878,nssv11632,nssv12823,nssv11944,nssv11566,nssv11696,nssv12717,nssv12552 M 31 16 9 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 nsv820753 3 199309771 199317351 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420384 S 1 0 1 "" NA10851 esv2160218 3 199310011 199311095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843452 S 1 0 1 "" NA18507 nsv515004 3 199310080 199317152 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628499 S 1414 0 0 "" esv26652 3 199310099 199446787 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16819,esv20757,esv10475,esv18179,esv11042,esv11237,esv10771,esv17462,esv11934,esv18242,esv18164 M 451 31 18 FAM157A NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv991223 3 199310420 199319311 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565381 S 3 0 1 "" HuRef nsv251 3 199311677 199325006 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv251 S 1 1 0 "" NA15510 nsv4191 3 199311677 199325006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4715,nssv11078,nssv9388,nssv362 M 9 4 0 "" NA15510,NA18517,NA19129,NA19240 esv1264465 3 199315620 199315670 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618128 S 2 0 1 "" HuRef esv1181298 3 199316877 199316927 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260378 S 2 0 1 "" HuRef esv1129481 3 199317127 199317127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837347 S 2 1 0 "" HuRef nsv820948 3 199317352 199379534 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420385 S 1 1 0 FAM157A NA10851 dgv81n17 3 199317479 199346953 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437361,nsv437362 M 60 0 2 "" NA18500,NA19221 nsv10407 3 199322633 199378936 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12039,nssv12747,nssv12582,nssv11690 M 31 4 0 Samples from several populations that are part of the HapMap project. FAM157A NA12740,NA18502,NA18853,NA19132 nsv513110 3 199328080 199334821 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626601 S 1 0 1 "" 1 nsv442889 3 199329613 199334102 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv471429 3 199363634 199392125 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548254,nssv548257,nssv548255 M 3 FAM157A nsv482085 3 199363634 199392125 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558446 S 1 1 0 FAM157A KB1 nsv10408 3 199373344 199385938 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28966,nssv12329,nssv12704,nssv11720,nssv11717,nssv11726,nssv11665 M 31 2 5 Samples from several populations that are part of the HapMap project. FAM157A NA18517,NA18563,NA18572,NA18853,NA18980,NA19007,NA19173 esv6783 3 199384167 199384791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29224 S 1 0 1 FAM157A SJK nsv10409 4 5 61319 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12612,nssv12501,nssv11677,nssv11707,nssv13620 M 31 0 4 Samples from several populations that are part of the HapMap project. ZNF595,ZNF718 NA11830,NA18502,NA18860,NA19221 esv27683 4 215 25743 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12457,esv15646 M 451 1 2 "" NA12414,NA12749,NA12878 nsv821633 4 4287 54931 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421356,nssv1421357 M 31 2 0 ZNF595,ZNF718 esv1009989 4 8052 30765 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565160 S 3 1 0 "" HuRef nsv4192 4 8204 39648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3227,nssv11079 M 9 2 0 "" NA12878,NA15510 nsv252 4 8267 39648 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv252 S 1 1 0 "" NA15510 dgv1563e1 4 19099 56331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1361,essv23728,essv6047 M 271 0 0 ZNF595,ZNF718 NA12813,NA18603 esv2752043 4 19099 106981 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984439,essv6984440 M 771 1 0 ZNF595,ZNF718 BEC_706 nsv822424 4 32500 39415 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431994 S 31 1 0 "" AK20 esv2639801 4 33192 39658 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333710 S 1 0 1 "" NA18507 esv25914 4 33458 39085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14270 S 451 0 5 "" NA18502,NA18505,NA18508,NA19129,NA19147 nsv436426 4 33596 39586 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466066 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv33512 4 34049 240916 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92786 S 51 1 0 ZNF595,ZNF718,ZNF876P 21944 nsv507147 4 35380 41380 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617624 S 4 1 0 "" CHM essv5613 4 35410 56331 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ZNF595,ZNF718 NA18593 nsv878233 4 35410 305673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566565 S 6533 1 0 ZNF595,ZNF718,ZNF732,ZNF876P IS30781 esv1009209 4 38959 38959 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583756 S 3 1 0 "" HuRef nsv290710 4 39092 39092 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309288 M 24 "" esv2420576 4 46639 47668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992871 S 1 0 1 ZNF595,ZNF718 NA18507 nsv878234 4 47538 157596 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571238 S 6533 1 0 ZNF595,ZNF718 IS32653 dgv5384n71 4 47538 248627 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878239,nsv878235,nsv878238,nsv878237 M 6533 0 6 ZNF595,ZNF718,ZNF876P MS21117,SP50940,SP54967,SP55647,SP56849,SP58047 nsv878236 4 47538 288772 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522238 S 6533 0 1 ZNF595,ZNF718,ZNF732,ZNF876P SP52859 esv2460685 4 51333 52662 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181649 S 1 0 1 ZNF595,ZNF718 NA18507 esv7180 4 56109 121339 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29621 S 1 0 1 ZNF595,ZNF718 SJK esv5403 4 56247 121342 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27844 S 1 0 0 Single Asian sample YH ZNF595,ZNF718 YH nsv818206 4 63508 84380 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416540,nssv1415630,nssv1415631 M 112 0 3 ZNF595,ZNF718 NA10835,NA12248,NA19171 nsv461141 4 63508 157596 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537579 S 1557 1 0 ZNF595,ZNF718 1780854039_A nsv516451 4 63508 171476 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693726,nssv690920,nssv690223,nssv652931,nssv656016,nssv660254,nssv677510,nssv664011,nssv681489,nssv705977,nssv679808,nssv681610,nssv670591,nssv680053,nssv696789,nssv694711 M 2026 12 4 ZNF595,ZNF718 dgv5385n71 4 64983 221940 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878241,nsv878240 M 6533 2 0 ZNF595,ZNF718,ZNF876P MS13423,MS14848 esv271141 4 105503 105607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503004,essv2509103,essv2513471,essv2504825,essv2510929 M 157 5 0 Samples from several populations that are part of the HapMap project. ZNF718 NA18507,NA18522,NA18907,NA19099,NA19116 nsv4193 4 111280 131236 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10389,nssv4716 M 9 2 0 ZNF718 NA18956,NA19129 esv2456521 4 115383 198866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281700 S 1 0 1 ZNF718,ZNF876P NA18507 esv3355 4 121373 209403 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25796 S 1 1 0 Single Asian sample YH ZNF718,ZNF876P YH nsv508985 4 121734 121734 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618024 S 4 1 0 ZNF718 CHM nsv461142 4 124851 157596 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537580 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF718 HGDP00455 esv268902 4 136709 138393 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515686,essv2513634 M 157 2 0 Samples from several populations that are part of the HapMap project. ZNF718 NA07347,NA12815 nsv829833 4 146008 297940 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443325 S 95 1 0 ZNF718,ZNF732,ZNF876P nsv515005 4 146232 148501 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628500 S 1414 0 0 ZNF718 dgv5386n71 4 202575 323310 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878242,nsv878243 M 6533 2 0 ZNF141,ZNF732,ZNF876P MS10591,MS12005 esv4769 4 207616 449885 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27210 S 1 0 0 Single Asian sample YH ABCA11P,ZNF141,ZNF721,ZNF732,ZNF876P YH nsv878244 4 215449 288772 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583321 S 6533 0 1 ZNF732,ZNF876P IS36423 nsv469996 4 215449 342955 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546229 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF141,ZNF732,ZNF876P HGDP00638 nsv10410 4 245505 247224 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29163,nssv11974 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA10863 esv271770 4 245734 245819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515621,essv2517246,essv2513671 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12815,NA18970 nsv469736 4 248196 418202 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649757 M 265 0 5 Samples from several populations that are part of the HapMap project. ABCA11P,ZNF141,ZNF732 esv2462495 4 253225 254748 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183115 S 1 0 1 ZNF732 NA18507 esv2041098 4 253767 254439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813814 S 1 0 1 "" NA18507 nsv10411 4 282212 287560 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12004 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 nsv461144 4 321740 463952 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537581 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA11P,ZNF141,ZNF721 HGDP01369 nsv522230 4 357927 405311 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695007 S 2026 0 1 "" esv2195386 4 390889 391548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881818 S 1 0 1 "" NA18507 nsv521895 4 405311 410688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694667 S 2026 0 1 ABCA11P nsv461145 4 405311 487138 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537582 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA11P,PIGG,ZNF721 HGDP00975 nsv517948 4 442106 465468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695360 S 2026 0 1 ABCA11P,ZNF721 nsv469997 4 460103 511480 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546230 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIGG,ZNF721 HGDP01405 nsv461146 4 460103 518289 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537583 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIGG,ZNF721 HGDP01405 nsv878245 4 499178 684613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543411 S 6533 0 1 ATP5I,MFSD7,MYL5,PDE6B,PIGG MS16153 nsv508986 4 511688 740782 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620783,nssv619357,nssv623405,nssv619358,nssv619356 M 4 3 0 ATP5I,MFSD7,MYL5,PCGF3,PDE6B,PIGG NA10860,NA15510,NA18994 nsv822425 4 530105 1403799 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435016 S 31 0 1 ATP5I,C4orf42,CPLX1,CRIPAK,CTBP1,DGKQ,FGFRL1,GAK,IDUA,KIAA1530,LOC100129917,LOC100130872,MAEA,MFSD7,MYL5,PCGF3,PDE6B,RNF212,SLC26A1,SPON2,TMED11P,TMEM175 NA18942 esv1198068 4 534386 534386 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864763 S 2 1 0 "" HuRef esv2234279 4 543506 543923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846973 S 1 0 1 "" NA18507 esv23803 4 543618 550788 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15918 S 451 0 3 "" NA12828,NA18502,NA19108 nsv820418 4 543618 550788 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420386 S 1 1 0 "" NA10851 esv2012288 4 550502 550896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837148 S 1 0 1 "" NA18507 esv26815 4 558952 560319 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11465 S 451 0 1 "" NA07045 nsv878246 4 582507 686848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580819 S 6533 0 1 ATP5I,MFSD7,MYL5,PDE6B IS35484 dgv1564e1 4 593208 921354 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1036,esv30 M 271 0 0 ATP5I,CPLX1,GAK,LOC100129917,MFSD7,MYL5,PCGF3,PDE6B,TMEM175 NA19005 esv1042125 4 595187 595255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091300 S 2 0 1 "" HuRef nsv878247 4 597202 915149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592137 S 6533 0 1 ATP5I,CPLX1,GAK,LOC100129917,MFSD7,MYL5,PCGF3,PDE6B IS39233 esv993737 4 608112 618837 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563701 S 3 0 1 PDE6B HuRef esv29320 4 618597 619577 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16311 S 451 1 0 PDE6B NA11993 nsv293468 4 618762 618853 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312046 M 24 PDE6B nsv4194 4 625316 647212 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv363 S 9 0 1 PDE6B NA19240 esv24054 4 627593 632278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15589 S 451 0 2 PDE6B NA18517,NA19240 dgv5387n71 4 635300 681026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878248,nsv878249 M 6533 0 2 ATP5I,MFSD7,MYL5,PDE6B SP54956,SP54988 nsv10412 4 639291 641178 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11973,nssv12069,nssv11462,nssv12734 M 31 4 0 Samples from several populations that are part of the HapMap project. PDE6B NA07029,NA07048,NA12740,NA18517 esv2588771 4 644084 645049 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292452 S 1 1 0 PDE6B NA18507 esv1788163 4 644781 644781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353172 S 2 1 0 PDE6B HuRef dgv41n50 4 652098 653908 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511246,nsv513111 M 1 0 1 PDE6B 1 esv24745 4 652139 653599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15421 S 451 0 1 PDE6B NA18502 esv1251464 4 652307 652641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156548 S 2 0 1 PDE6B HuRef esv1532305 4 652711 652822 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796791 S 2 0 1 PDE6B HuRef esv1748545 4 652878 652989 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069287 S 2 0 1 PDE6B HuRef nsv819707 4 654344 654760 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418942 S 2 0 1 PDE6B AK1 nsv829834 4 655477 765524 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443326 S 95 0 1 ATP5I,LOC100129917,MFSD7,MYL5,PCGF3 nsv10413 4 657204 674301 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12642 S 31 1 0 Samples from several populations that are part of the HapMap project. ATP5I,MFSD7,MYL5 NA18502 dgv5388n71 4 658567 675993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878250,nsv878251,nsv878252 M 6533 0 3 MFSD7,MYL5 SP54043,SP55019,SP55021 esv995514 4 662948 662948 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575124 S 3 1 0 MYL5 HuRef nsv10414 4 686527 691955 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13650 S 31 1 0 Samples from several populations that are part of the HapMap project. PCGF3 NA19221 nsv822426 4 688559 690452 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441000 S 31 1 0 PCGF3 NA18969 nsv10415 4 696681 698755 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11492 S 31 0 1 Samples from several populations that are part of the HapMap project. PCGF3 NA07029 nsv290420 4 696951 697075 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308998 M 24 PCGF3 esv22794 4 698453 701488 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10213 S 451 1 16 PCGF3 NA07037,NA11894,NA11993,NA11995,NA12004,NA12749,NA18502,NA18505,NA18508,NA18523,NA18858,NA18909,NA18916,NA19099,NA19114,NA19225,NA19240 esv1002264 4 698593 701488 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586449 S 3 0 1 PCGF3 HuRef nsv878253 4 698932 761587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546540 S 6533 0 1 PCGF3 MS17208 dgv5389n71 4 698932 889143 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878259,nsv878257,nsv878254 M 6533 0 3 CPLX1,GAK,LOC100129917,PCGF3 IS32322,MS13770,MS16153 dgv5390n71 4 698932 1048358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878258,nsv878255,nsv878260 M 6533 0 3 CPLX1,DGKQ,FGFRL1,GAK,IDUA,LOC100129917,PCGF3,SLC26A1,TMEM175 IS39258,MS10311,MS18276 esv1347923 4 699826 701009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694212 S 2 0 1 PCGF3 HuRef nsv878256 4 702222 734098 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510687 S 6533 0 1 PCGF3 SP54988 esv23784 4 715431 715961 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16932 S 451 0 1 PCGF3 NA12004 nsv4195 4 717187 758059 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7915 S 9 0 1 PCGF3 NA12156 esv2315321 4 720129 720671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615328 S 1 0 1 PCGF3 NA18507 nsv293714 4 720836 720988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312292 M 24 PCGF3 nsv10416 4 727736 732329 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12794,nssv11565,nssv12003,nssv12018,nssv12853,nssv12129 M 31 6 0 Samples from several populations that are part of the HapMap project. PCGF3 NA07048,NA12740,NA18504,NA18517,NA18537,NA18564 nsv513112 4 728363 731597 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626603 S 1 0 1 PCGF3 1 esv2441628 4 728370 731736 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332597 S 1 0 1 PCGF3 NA18507 esv27696 4 728454 731519 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18327 S 451 3 18 PCGF3 NA06985,NA11931,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA18502,NA18505,NA18508,NA18523,NA18858,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 dgv132n6 4 728471 730918 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292225,nsv292816 M 24 PCGF3 esv1431312 4 729539 729824 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701309 S 2 0 1 PCGF3 HuRef esv1002699 4 732779 737297 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564737 S 3 0 1 PCGF3 HuRef nsv513113 4 741795 743761 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626604 S 1 0 1 PCGF3 1 nsv10418 4 742002 745765 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13523 S 31 0 1 Samples from several populations that are part of the HapMap project. PCGF3 NA18972 esv29088 4 742085 743790 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18844 S 451 0 6 PCGF3 NA07037,NA12287,NA12776,NA12878,NA18916,NA19240 esv1335990 4 742435 743336 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100576 S 2 0 1 PCGF3 HuRef nsv818207 4 743944 811490 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416718 S 112 1 0 CPLX1,LOC100129917,PCGF3 NA19159 dgv5391n71 4 746686 1077531 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878276,nsv878280,nsv878272,nsv878277,nsv878270,nsv878265,nsv878261,nsv878264,nsv878263,nsv878266,nsv878269 M 6533 0 11 CPLX1,DGKQ,FGFRL1,GAK,IDUA,LOC100129917,PCGF3,RNF212,SLC26A1,TMEM175 IS32737,IS33239,IS33684,IS35484,IS37646,IS40396,MS10698,MS10769,MS13095,MS13727,MS16315 nsv520136 4 749709 770883 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694365 S 2026 1 0 CPLX1,LOC100129917,PCGF3 nsv515844 4 761587 770883 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661696,nssv664993 M 2026 0 2 CPLX1,LOC100129917 nsv526780 4 761587 776401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703132 S 2026 0 1 CPLX1,LOC100129917 nsv521402 4 761587 783763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698012 S 2026 0 1 CPLX1,LOC100129917 nsv878262 4 761587 855227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572771 S 6533 0 1 CPLX1,GAK,LOC100129917 IS33178 nsv10419 4 772316 778814 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29193 S 31 0 1 Samples from several populations that are part of the HapMap project. CPLX1 NA10863 esv2354094 4 773535 774052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962054 S 1 0 1 CPLX1 NA18507 esv990610 4 773678 773755 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581497 S 3 0 1 CPLX1 HuRef esv996415 4 773717 773870 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566269 S 3 0 1 CPLX1 HuRef nsv878267 4 785890 842313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546541,nssv1577281 M 6533 0 2 CPLX1,GAK IS34407,MS17208 dgv5392n71 4 785890 915149 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878268,nsv878281,nsv878275 M 6533 0 3 CPLX1,GAK IS32888,IS37172,IS38176 nsv461147 4 788511 855227 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537584 S 1557 0 1 CPLX1,GAK 1780862347_A nsv878271 4 793637 818148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509809 S 6533 0 1 CPLX1 SP54956 nsv469998 4 799593 1077531 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546237,nssv546235,nssv546239,nssv546233,nssv546236,nssv546234,nssv546238,nssv546232 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CPLX1,DGKQ,FGFRL1,GAK,IDUA,RNF212,SLC26A1,TMEM175 HGDP00288,HGDP00290,HGDP00298,HGDP00543,HGDP00550,HGDP00661,HGDP00825,HGDP00978 nsv822427 4 799623 800738 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436527 S 31 1 0 CPLX1 NA18542 esv32803 4 803284 857262 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98932 S 51 1 0 CPLX1,GAK 21606 dgv5393n71 4 803393 881098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878279,nsv878274,nsv878273 M 6533 0 3 CPLX1,GAK IS33162,IS34304,IS37985 nsv461148 4 811490 853917 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537585 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GAK HGDP00684 nsv878278 4 818148 852156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514269 S 6533 0 1 GAK SP55992 nsv508987 4 822071 901603 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619359 S 4 1 0 GAK NA10860 nsv292308 4 830357 830407 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310886 M 24 "" nsv291489 4 836090 836152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310067 M 24 GAK esv29984 4 841357 954359 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84223 S 2 0 1 DGKQ,GAK,TMEM175 HuRef dgv5394n71 4 844712 915149 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878284,nsv878282 M 6533 0 2 GAK IS33504,IS40230 dgv5395n71 4 852156 1042488 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878283,nsv878285 M 6533 0 2 DGKQ,FGFRL1,GAK,IDUA,SLC26A1,TMEM175 IS41243,MS17208 nsv292455 4 902521 902649 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311033 M 24 GAK esv22328 4 910166 911216 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10120 S 451 1 0 GAK NA11993 esv1655240 4 911213 911287 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711197 S 2 0 1 GAK HuRef nsv878286 4 918684 984414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578822 S 6533 1 0 DGKQ,IDUA,SLC26A1,TMEM175 IS34912 nsv878287 4 918684 991447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600517 S 6533 0 1 DGKQ,IDUA,SLC26A1,TMEM175 IS41894 dgv5396n71 4 929883 1014752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878298,nsv878299,nsv878296,nsv878309,nsv878306,nsv878307,nsv878300,nsv878297,nsv878305,nsv878288 M 6533 0 13 DGKQ,FGFRL1,IDUA,SLC26A1,TMEM175 IS32322,IS33162,IS33455,IS34005,IS39363,IS40297,MS15997,MS17825,SP51109,SP54043,SP54684,SP54725,SP54988 dgv5397n71 4 929883 1054116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878295,nsv878301,nsv878308,nsv878304,nsv878290,nsv878294,nsv878302,nsv878289,nsv878303,nsv878291,nsv878293 M 6533 0 19 DGKQ,FGFRL1,IDUA,SLC26A1,TMEM175 IS30369,IS32841,IS33178,IS33248,IS34057,IS34235,IS37985,IS38176,IS39417,IS40230,IS40502,IS41410,MS11237,MS11306,MS13770,MS16153,MS17522,SP54956,SP55021 nsv878292 4 929883 1077531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573763 S 6533 0 1 DGKQ,FGFRL1,IDUA,RNF212,SLC26A1,TMEM175 IS33504 nsv4196 4 945543 988387 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7916 S 9 0 1 DGKQ,IDUA,SLC26A1 NA12156 esv28042 4 951685 952130 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16255 S 451 0 1 DGKQ NA19114 nsv822428 4 952684 1011932 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426577 S 31 1 0 DGKQ,FGFRL1,IDUA,SLC26A1 AK6 nsv878310 4 954359 1014752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574108 S 6533 0 1 DGKQ,FGFRL1,IDUA,SLC26A1 IS33514 dgv5398n71 4 955779 1048358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878311,nsv878312,nsv878314,nsv878313 M 6533 0 5 DGKQ,FGFRL1,IDUA,SLC26A1 IS30781,IS31045,IS33601,IS34304,IS37172 nsv878315 4 969338 999420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508829 S 6533 0 1 FGFRL1,IDUA,SLC26A1 SP54591 nsv482086 4 971447 977224 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558447 S 1 1 0 IDUA,SLC26A1 KB1 nsv822429 4 980471 983523 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436528 S 31 1 0 IDUA NA18542 dgv5399n71 4 982480 1001115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878318,nsv878320,nsv878319,nsv878316 M 6533 0 4 FGFRL1,IDUA SP54225,SP54593,SP54967,SP55019 esv1085367 4 983646 983732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649118 S 2 0 1 IDUA HuRef nsv878317 4 985305 1006202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505852 S 6533 0 1 FGFRL1,IDUA SP54042 dgv5400n71 4 993022 1035265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878322,nsv878321 M 6533 0 2 FGFRL1 SP54672,SP54782 esv28049 4 993313 995958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18067 S 451 0 1 FGFRL1 NA07045 nsv878323 4 999420 1014287 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503015 S 6533 1 0 FGFRL1 SP51477 nsv878324 4 999420 1028633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505510 S 6533 1 0 FGFRL1 SP53583 nsv878325 4 1001115 1048358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599370 S 6533 0 1 FGFRL1 IS41634 nsv878326 4 1002156 1028633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508044 S 6533 0 1 FGFRL1 SP54725 nsv878327 4 1014752 1077531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534688 S 6533 0 1 RNF212 MS11726 esv28879 4 1030137 1030662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15924 S 451 0 1 "" NA18907 esv25493 4 1037354 1039229 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12419 S 451 0 1 "" NA18508 nsv513114 4 1037424 1039677 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626605 S 1 0 1 "" 1 esv1519674 4 1038085 1038689 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762316 S 2 0 1 "" HuRef esv988640 4 1054253 1054358 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576655 S 3 0 1 "" HuRef esv21991 4 1070327 1071362 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13114 S 451 2 0 RNF212 NA06985,NA15510 esv996519 4 1076777 1076826 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566077 S 3 0 1 RNF212 HuRef esv1191684 4 1076777 1076827 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710136 S 2 0 1 RNF212 HuRef esv24461 4 1078851 1080526 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20826 S 451 0 21 RNF212 NA07037,NA12287,NA12489,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1505561 4 1079002 1079179 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310093 S 2 0 1 RNF212 HuRef nsv292333 4 1079180 1079415 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310911 M 24 RNF212 esv1703084 4 1079200 1079495 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793804 S 2 0 1 RNF212 HuRef nsv829835 4 1087586 1294239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443327 S 95 1 0 C4orf42,CTBP1,LOC100130872,MAEA,RNF212,SPON2,TMED11P esv1627506 4 1128791 1129934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028121 S 2 0 1 "" HuRef esv2559309 4 1130585 1132515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249529 S 1 0 1 "" NA18507 nsv878328 4 1131573 1960223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546543 S 6533 0 1 C4orf42,CRIPAK,CTBP1,FAM53A,FGFR3,KIAA1530,LETM1,LOC100130872,MAEA,MIR943,SCARNA22,SLBP,SPON2,TACC3,TMEM129,WHSC1,WHSC2 MS17208 dgv5401n71 4 1137407 1244930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878329,nsv878331 M 6533 0 10 C4orf42,CTBP1,LOC100130872,SPON2 IS30369,IS32737,IS32841,IS33504,IS33797,IS39233,MS10311,MS10698,MS16153,MS18276 nsv878330 4 1137407 1493470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575009 S 6533 0 1 C4orf42,CRIPAK,CTBP1,KIAA1530,LOC100130872,MAEA,SPON2 IS33684 nsv519106 4 1148991 1164861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696582 S 2026 0 1 SPON2 dgv636n27 4 1149680 1244930 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461151,nsv461154,nsv461153 M 1557 0 3 C4orf42,CTBP1,LOC100130872,SPON2 HGDP00546,HGDP00788,NINDS_64 dgv5402n71 4 1169213 1244930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878333,nsv878332 M 6533 0 2 C4orf42,CTBP1,LOC100130872,SPON2 IS33601,IS40230 nsv508988 4 1174743 1342658 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619360,nssv619361 M 4 1 0 C4orf42,CTBP1,KIAA1530,LOC100130872,MAEA,SPON2 NA10860 nsv293242 4 1177501 1177658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311820 M 24 SPON2 nsv822430 4 1199835 1200293 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431995 S 31 0 1 CTBP1 AK20 nsv822432 4 1215517 1216594 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436529 S 31 1 0 CTBP1 NA18542 esv24472 4 1220368 1221788 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10056 S 451 1 0 CTBP1 NA12776 nsv822433 4 1222688 1236206 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433586 S 31 1 0 C4orf42,CTBP1 NA18526 nsv878334 4 1222910 1244930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511344 S 6533 0 1 C4orf42,CTBP1 SP55021 esv1540743 4 1224240 1224240 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813167 S 2 1 0 CTBP1 HuRef esv1720969 4 1224247 1224247 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107064 S 2 1 0 CTBP1 HuRef dgv5403n71 4 1227014 1244930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878337,nsv878335,nsv878336 M 6533 0 11 C4orf42,CTBP1 SP54043,SP54593,SP54657,SP54672,SP54774,SP54892,SP54937,SP54967,SP55195,SP55277,SP81010 esv27609 4 1231724 1234283 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18068 S 451 0 2 C4orf42,CTBP1 NA07045,NA12878 nsv461156 4 1244930 1302394 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537590 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAEA HGDP01303 esv2273868 4 1256329 1256698 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941254 S 1 0 1 "" NA18507 esv1182541 4 1256445 1256736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770536 S 2 0 1 "" HuRef nsv291347 4 1256446 1256638 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309925 M 24 "" esv1162415 4 1256937 1257280 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117838 S 2 0 1 "" HuRef esv1174727 4 1257545 1257937 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773547 S 2 0 1 "" HuRef esv2516654 4 1262373 1263324 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373779 S 1 1 0 "" NA18507 esv1283198 4 1267489 1267489 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749158 S 2 1 0 "" HuRef dgv5404n71 4 1267826 1353886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878339,nsv878338,nsv878342,nsv878346 M 6533 0 4 KIAA1530,MAEA IS32322,IS34057,IS40230,SP54956 dgv5405n71 4 1267826 1381400 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878341,nsv878340,nsv878348,nsv878343 M 6533 0 6 CRIPAK,KIAA1530,MAEA IS32737,IS33239,MS10311,MS10698,MS16315,MS18276 esv22192 4 1279224 1282044 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14797,esv13294,esv14391 M 451 0 3 MAEA NA07037,NA18502,NA18508 esv1006767 4 1279746 1279946 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568405 S 3 0 1 MAEA HuRef esv1108812 4 1279963 1280164 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332827 S 2 0 1 MAEA HuRef nsv878344 4 1281337 1404684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592139 S 6533 0 1 CRIPAK,KIAA1530,MAEA IS39233 nsv878345 4 1281337 1533980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543415 S 6533 0 1 CRIPAK,KIAA1530,MAEA MS16153 nsv461157 4 1290077 1342685 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537591 S 1557 0 1 KIAA1530,MAEA 1780854573_A nsv878347 4 1290077 1836156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585823 S 6533 0 1 CRIPAK,FAM53A,FGFR3,KIAA1530,LETM1,MAEA,SLBP,TACC3,TMEM129 IS37646 esv267600 4 1291799 1292128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565753,essv2540987,essv2546171,essv2542251,essv2536596,essv2543832,essv2568190,essv2545281,essv2523439,essv2531856,essv2570531,essv2548566,essv2521727,essv2550655,essv2525373,essv2535320,essv2544424,essv2529311,essv2558379,essv2553845,essv2559487,essv2564089,essv2530632,essv2537435,essv2528408,essv2546822,essv2562821,essv2541188,essv2534791,essv2539732,essv2535711,essv2572200,essv2578360,essv2572997,essv2557632,essv2572136,essv2525778,essv2536206,essv2537916,essv2548666,essv2533229,essv2548000,essv2563416 M 157 43 0 Samples from several populations that are part of the HapMap project. MAEA NA06986,NA07000,NA07037,NA07051,NA07347,NA10847,NA11829,NA11831,NA11881,NA11919,NA11920,NA11992,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12414,NA12749,NA12750,NA12763,NA12776,NA12828,NA12873,NA12878,NA12891,NA12892,NA18532,NA18545,NA18561,NA18563,NA18608,NA18609,NA18940,NA18942,NA18953,NA18973,NA18980 esv274069 4 1291800 1292129 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581880,essv2582494,essv2582975 M 7 3 0 Samples from several populations that are part of the HapMap project. MAEA NA12878,NA12891,NA12892 esv1413945 4 1291833 1291833 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993354 S 2 1 0 MAEA HuRef esv1007469 4 1303425 1303425 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567108 S 3 1 0 MAEA HuRef esv1714696 4 1303452 1303452 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931586 S 2 1 0 MAEA HuRef nsv290178 4 1303453 1303453 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308756 M 24 MAEA nsv878349 4 1308132 1353886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572256 S 6533 0 1 KIAA1530,MAEA IS32918 nsv878350 4 1310023 1470080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534689 S 6533 0 1 CRIPAK,KIAA1530,MAEA MS11726 esv23351 4 1317540 1318325 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18969 S 451 0 4 MAEA NA12006,NA12749,NA12776,NA19225 nsv292086 4 1317760 1317825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310664 M 24 MAEA esv1011456 4 1317868 1317970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334695 S 2 0 1 MAEA HuRef nsv878351 4 1319847 1404684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565141 S 6533 0 1 CRIPAK,KIAA1530,MAEA IS30369 nsv878352 4 1324721 1353886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505942,nssv1507744 M 6533 0 2 KIAA1530 SP54043,SP54684 esv5140 4 1347656 1348203 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27581 S 1 0 1 Single Asian sample YH KIAA1530 YH esv2394121 4 1356386 1356843 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548028 S 1 0 1 KIAA1530 NA18507 esv1006299 4 1356525 1356656 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577653 S 3 0 1 KIAA1530 HuRef esv1410483 4 1356535 1356667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111477 S 2 0 1 KIAA1530 HuRef esv1935041 4 1363368 1363834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713776 S 1 0 1 KIAA1530 NA18507 esv4355 4 1363505 1363764 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26796 S 1 0 1 Single Asian sample YH KIAA1530 YH nsv292411 4 1363517 1363628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310989 M 24 KIAA1530 esv1756129 4 1363550 1363662 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775442 S 2 0 1 KIAA1530 HuRef nsv822434 4 1366090 1366582 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436531 S 31 1 0 KIAA1530 NA18542 nsv4197 4 1371453 1405259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3228 S 9 1 0 CRIPAK,KIAA1530 NA12878 esv1697030 4 1375494 1375569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852314 S 2 0 1 CRIPAK HuRef esv21856 4 1377978 1382638 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11309,esv14957,esv11906 M 451 24 2 CRIPAK NA06985,NA07037,NA07045,NA11931,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18505,NA18508,NA18523,NA18861,NA18907,NA18909,NA18916,NA19129,NA19147,NA19190,NA19225 esv995849 4 1380720 1382183 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564485 S 3 1 0 "" HuRef nsv820599 4 1381208 1382518 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420387 S 1 0 1 "" NA10851 nsv292855 4 1381226 1381495 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311433 M 24 "" dgv5406n71 4 1382171 1533980 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878354,nsv878353,nsv878355 M 6533 0 3 "" IS33178,MS10698,MS13727 dgv853n67 4 1386452 1392757 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822435,nsv822436 M 31 2 0 "" AK6,NA18972 esv24609 4 1409822 1413095 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12227,esv18940 M 451 0 23 "" NA07037,NA12287,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv290560 4 1410392 1410791 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309138 M 24 "" dgv5407n71 4 1412813 1634762 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878359,nsv878356,nsv878358,nsv878357 M 6533 0 4 FAM53A IS32737,IS37293,IS41894,MS10311 dgv5408n71 4 1412813 1871707 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878360,nsv878361,nsv878376 M 6533 0 3 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129,WHSC1 MS13770,MS18276,SP54956 nsv822437 4 1464245 1867101 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435017 S 31 0 1 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129,WHSC1 NA18942 dgv5409n71 4 1470080 1640652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878364,nsv878363,nsv878365,nsv878362 M 6533 0 4 FAM53A IS34304,IS39233,IS39258,IS40230 nsv878366 4 1476525 1533980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548184 S 6533 1 0 "" MS17730 nsv878367 4 1476525 1568291 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593370 S 6533 0 1 "" IS39417 nsv878368 4 1476525 1674340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570695 S 6533 0 1 FAM53A,SLBP IS32322 nsv878369 4 1488616 1674340 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583686 S 6533 1 0 FAM53A,SLBP IS36591 esv23171 4 1491627 1492481 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20049 S 451 4 0 "" NA15510,NA18909,NA19114,NA19240 nsv293213 4 1491874 1492488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311791 M 24 "" nsv470000 4 1493470 1694377 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546243,nssv546244,nssv546240,nssv546245,nssv546241 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM53A,SLBP,TACC3,TMEM129 HGDP00543,HGDP00546,HGDP00661,HGDP00825,HGDP00978 nsv513115 4 1494345 1497399 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626606 S 1 0 1 "" 1 esv2633067 4 1495267 1497347 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365650 S 1 0 1 "" NA18507 esv2037496 4 1495407 1496203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579915 S 1 0 1 "" NA18507 nsv821428 4 1495512 1497037 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420388 S 1 0 1 "" NA10851 esv1000594 4 1495554 1503031 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563833 S 3 0 1 "" HuRef esv9152 4 1495559 1497040 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31593 S 1 0 1 "" SJK esv4575 4 1495564 1497152 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27016 S 1 0 1 Single Asian sample YH "" YH esv23738 4 1495632 1497037 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10487 S 451 2 24 "" NA07037,NA11894,NA11993,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19240,NA19257 dgv5410n71 4 1496863 1640652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878370,nsv878373,nsv878374,nsv878377,nsv878375 M 6533 0 7 FAM53A IS33514,IS33684,IS34407,IS35484,MS10769,MS11237,MS12262 nsv524799 4 1498513 1504781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700791 S 2026 0 1 "" dgv311n21 4 1498513 1512029 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524623,nsv523552 M 2026 0 2 "" nsv878371 4 1498513 1533980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544229,nssv1572115,nssv1584777 M 6533 0 3 "" IS32888,IS37172,MS16315 nsv878372 4 1498513 1601792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575700 S 6533 0 1 "" IS33797 esv1259098 4 1498979 1499034 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606068 S 2 0 1 "" HuRef esv22558 4 1517884 1519214 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17604 S 451 1 2 "" NA18858,NA18909,NA19114 esv1791170 4 1518048 1518308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221119 S 2 0 1 "" HuRef nsv290537 4 1527971 1528047 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309115 M 24 "" esv992290 4 1529340 1529484 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571697 S 3 0 1 "" HuRef nsv291911 4 1529401 1529545 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310489 M 24 "" dgv5411n71 4 1536224 1640652 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878381,nsv878378,nsv878382 M 6533 0 5 FAM53A IS30369,IS33178,IS33776,IS41634,SP54988 dgv5412n71 4 1536224 1674340 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878379,nsv878386 M 6533 0 3 FAM53A,SLBP IS32841,IS33504,MS16153 esv990489 4 1538330 1538450 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566288 S 3 0 1 "" HuRef nsv292680 4 1538506 1538626 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311258 M 24 "" nsv822438 4 1539665 1540872 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436532 S 31 1 0 "" NA18542 dgv5413n71 4 1543447 1628925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878385,nsv878388,nsv878380,nsv878384 M 6533 0 6 FAM53A IS33162,IS33665,IS34057,IS38176,IS40799,MS10698 dgv5414n71 4 1543447 1783254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878389,nsv878387,nsv878383 M 6533 0 3 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129 IS33248,IS33601,IS41410 esv1677876 4 1552925 1552925 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949100 S 2 1 0 "" HuRef esv2509685 4 1572304 1574212 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296007 S 1 0 1 "" NA18507 esv21905 4 1572740 1573900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10144 S 451 0 7 "" NA07045,NA11894,NA11931,NA12006,NA12749,NA12828,NA18907 esv2391637 4 1572746 1573816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963729 S 1 0 1 "" NA18507 nsv822439 4 1572762 1573648 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439616 S 31 1 0 "" NA18537 nsv513116 4 1572784 1574005 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626607 S 1 0 1 "" 1 nsv878390 4 1578183 1640652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538407 S 6533 0 1 FAM53A MS13727 esv2337575 4 1588492 1589109 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656355 S 1 0 1 "" NA18507 nsv10420 4 1593444 1597111 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12824 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 dgv1565e1 4 1595351 1784573 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv242,essv17953 M 271 0 0 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129 NA12003 nsv428434 4 1595351 1784573 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454361 S 62 1 0 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129 HGDP00450 nsv508989 4 1595509 1818115 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619363,nssv619362,nssv619364 M 4 1 0 FAM53A,FGFR3,LETM1,SLBP,TACC3,TMEM129 NA10860 nsv10421 4 1596293 1597901 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28807 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12802 esv27664 4 1596613 1597503 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15753 S 451 4 2 "" NA12287,NA12749,NA12776,NA18502,NA18505,NA19225 esv1745170 4 1597428 1597477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218502 S 2 0 1 "" HuRef esv1002849 4 1597467 1597516 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567680 S 3 0 1 "" HuRef nsv10422 4 1608058 1610604 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12672 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv878391 4 1611575 1631490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505943 S 6533 0 1 FAM53A SP54043 esv1776644 4 1612824 1612824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605494 S 2 1 0 FAM53A HuRef esv1444353 4 1637908 1637908 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818408 S 2 1 0 FAM53A HuRef esv23460 4 1642443 1644258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15553 S 451 0 1 FAM53A NA18505 esv1210969 4 1642981 1642981 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221177 S 2 1 0 FAM53A HuRef esv1465412 4 1643025 1643025 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798526 S 2 1 0 FAM53A HuRef nsv878392 4 1677316 1694377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510690,nssv1511345 M 6533 0 2 SLBP,TACC3,TMEM129 SP54988,SP55021 nsv878393 4 1677316 1754823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595360 S 6533 0 1 SLBP,TACC3,TMEM129 IS40230 dgv5415n71 4 1677316 1783254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878394,nsv878397 M 6533 0 3 FGFR3,LETM1,SLBP,TACC3,TMEM129 IS30369,IS33162,SP50159 dgv5416n71 4 1677316 1871707 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878396,nsv878395,nsv878398 M 6533 0 6 FGFR3,LETM1,SLBP,TACC3,TMEM129,WHSC1 IS32737,IS32841,IS33684,IS35484,IS39233,MS10311 nsv292653 4 1692456 1692539 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311231 M 24 TMEM129 nsv290066 4 1703997 1703997 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308644 M 24 TACC3 dgv5417n71 4 1712967 1781126 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878403,nsv878401,nsv878405,nsv878402,nsv878399,nsv878404 M 6533 0 6 FGFR3,TACC3 SP54657,SP54672,SP54684,SP54725,SP54988,SP55021 nsv878400 4 1714050 1804220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544230,nssv1543417 M 6533 0 2 FGFR3,LETM1,TACC3 MS16153,MS16315 esv1451873 4 1728546 1728546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264496 S 2 1 0 "" HuRef nsv10423 4 1732730 1756671 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11596 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 esv1473725 4 1733053 1733053 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024274 S 2 1 0 "" HuRef nsv829836 4 1747203 1873050 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443328 S 95 0 1 FGFR3,LETM1,WHSC1 dgv5418n71 4 1755536 1779585 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878410,nsv878412,nsv878407,nsv878406,nsv878409,nsv878411,nsv878408 M 6533 0 9 FGFR3 SP51109,SP54043,SP54225,SP54593,SP54782,SP55056,SP55992,SP56223,SP81010 dgv5419n71 4 1762305 1779285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878416,nsv878413,nsv878415,nsv878414 M 6533 0 4 FGFR3 SP54042,SP54750,SP54937,SP55019 nsv878417 4 1767650 1777692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509013 S 6533 0 1 FGFR3 SP54591 nsv822440 4 1788256 1790242 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438088 S 31 1 0 LETM1 NA18951 esv27096 4 1842093 1844071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11585 S 451 0 2 WHSC1 NA07045,NA12878 nsv819354 4 1916586 1917010 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418946 S 2 1 0 WHSC1 AK1 nsv878418 4 1930398 2072095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567119 S 6533 0 1 C4orf48,MIR943,NAT8L,POLN,SCARNA22,WHSC1,WHSC2 IS31045 nsv878419 4 1943871 1975357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509813 S 6533 0 1 MIR943,SCARNA22,WHSC1,WHSC2 SP54956 nsv878420 4 1955572 1967887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510692 S 6533 0 1 MIR943,WHSC2 SP54988 esv33438 4 1956745 1957235 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94202 S 51 0 1 WHSC2 22394 nsv822441 4 1962765 2051965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435018 S 31 0 1 C4orf48,NAT8L,POLN,WHSC2 NA18942 dgv5420n71 4 2005395 2047264 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878422,nsv878421 M 6533 0 2 C4orf48,NAT8L,POLN SP51109,SP56047 esv21718 4 2030185 2031580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18945 S 451 0 1 NAT8L NA07045 esv1032770 4 2051955 2051955 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067103 S 2 1 0 POLN HuRef nsv4198 4 2062651 2089304 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7062 S 9 1 0 POLN NA12156 nsv291967 4 2064636 2065888 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310545 M 24 POLN nsv520780 4 2115518 2207355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697605 S 2026 1 0 HAUS3,POLN nsv829838 4 2126692 2321475 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443330 S 95 0 1 HAUS3,MIR4800,MXD4,POLN,ZFYVE28 nsv526094 4 2164744 2164822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702342 S 2026 0 1 POLN nsv878423 4 2164822 2441034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599372 S 6533 0 1 HAUS3,LOC402160,MIR4800,MXD4,POLN,RNF4,ZFYVE28 IS41634 esv2583887 4 2197964 2199095 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254701 S 1 1 0 POLN NA18507 nsv878424 4 2209643 2376259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549652 S 6533 0 1 HAUS3,MIR4800,MXD4,ZFYVE28 MS18276 dgv5421n71 4 2211274 2286672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878429,nsv878425 M 6533 0 2 HAUS3,MIR4800,MXD4,ZFYVE28 IS37172,IS37646 dgv5422n71 4 2213332 2238253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878428,nsv878427,nsv878426 M 6533 0 4 HAUS3,MIR4800,MXD4 SP50159,SP54043,SP54725,SP55021 nsv527189 4 2214663 2248214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703586 S 2026 0 1 MIR4800,MXD4,ZFYVE28 dgv312n21 4 2214663 2277264 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526969,nsv527925 M 2026 0 2 MIR4800,MXD4,ZFYVE28 nsv508990 4 2217764 2295852 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619365 S 4 1 0 MIR4800,MXD4,ZFYVE28 NA10860 nsv4200 4 2223606 2257902 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3229 S 9 1 0 MXD4,ZFYVE28 NA12878 esv24467 4 2232909 2234298 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19974 S 451 0 1 MXD4 NA07045 nsv878430 4 2238253 2281159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546544 S 6533 0 1 ZFYVE28 MS17208 nsv524965 4 2257219 2267348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700987 S 2026 0 1 ZFYVE28 dgv5423n71 4 2267384 2306623 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878432,nsv878431 M 6533 0 2 ZFYVE28 MS10311,MS11726 esv2490640 4 2270752 2271306 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184630 S 1 1 0 ZFYVE28 NA18507 esv2573577 4 2307799 2308508 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266767 S 1 1 0 ZFYVE28 NA18507 nsv878433 4 2314490 2456284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576890 S 6533 0 1 LOC402160,RNF4,ZFYVE28 IS34304 nsv518472 4 2318203 2487245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695908 S 2026 0 1 LOC402160,RNF4,ZFYVE28 nsv878434 4 2324151 2372504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585825 S 6533 0 1 ZFYVE28 IS37646 dgv5424n71 4 2356209 2456284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878441,nsv878437,nsv878435,nsv878438,nsv878436 M 6533 0 5 LOC402160,RNF4,ZFYVE28 IS32841,IS33684,IS37172,MS10769,MS17208 esv2581020 4 2366877 2368635 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205050 S 1 0 1 ZFYVE28 NA18507 esv2058080 4 2367391 2368447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587336 S 1 0 1 ZFYVE28 NA18507 nsv513117 4 2367458 2368456 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626608 S 1 0 1 ZFYVE28 1 esv6725 4 2367547 2368294 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29166 S 1 0 1 ZFYVE28 SJK esv27184 4 2367562 2368307 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12834 S 451 0 17 ZFYVE28 NA06985,NA07037,NA11931,NA11993,NA11995,NA12004,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18508,NA18916,NA19190 nsv821601 4 2367562 2368392 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420389 S 1 0 1 ZFYVE28 NA10851 esv4159 4 2367594 2368371 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26600 S 1 0 1 Single Asian sample YH ZFYVE28 YH dgv118e180 4 2367599 2368303 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989110,esv997513 M 3 0 1 ZFYVE28 HuRef esv1676935 4 2367662 2368316 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301284 S 2 0 1 ZFYVE28 HuRef nsv291825 4 2368066 2368316 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310403 M 24 ZFYVE28 esv1496535 4 2370221 2370329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688194 S 2 0 1 ZFYVE28 HuRef dgv5425n71 4 2383259 2441600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878439,nsv878440 M 6533 0 2 LOC402160,RNF4,ZFYVE28 SP54956,SP54988 esv33985 4 2389326 2389827 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100983,essv95211,essv97809,essv95709,essv95844,essv94530,essv92832,essv96234,essv97188,essv94911,essv97725,essv100547,essv96334,essv94233 M 51 6 8 ZFYVE28 21693,21721,21837,21841,21911,21932,21944,22007,22075,22231,22278,22298,22371,22394 esv32578 4 2389651 2390787 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99127 S 51 0 1 LOC402160,ZFYVE28 21938 esv25676 4 2389886 2390491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15010 S 451 0 1 ZFYVE28 NA07045 nsv289764 4 2401566 2401817 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308342 M 24 LOC402160 esv275562 4 2402997 2406483 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585540,essv2585648 M 1250 1 1 LOC402160 nsv293699 4 2407526 2407526 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312277 M 24 LOC402160 nsv292996 4 2414407 2414472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311574 M 24 LOC402160 esv1499184 4 2414516 2414582 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289033 S 2 0 1 LOC402160 HuRef esv8335 4 2417606 2417713 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30776 S 1 1 0 LOC402160 SJK nsv878442 4 2417774 2441600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509319 S 6533 0 1 LOC402160,RNF4 SP54782 esv2823 4 2482707 2483256 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25264 S 1 0 1 Single Asian sample YH RNF4 YH esv25411 4 2482731 2483311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17911 S 451 0 1 RNF4 NA18909 nsv290753 4 2483151 2483211 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309331 M 24 RNF4 esv22029 4 2507139 2509115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12181 S 451 0 1 "" NA07045 esv2443866 4 2541327 2542208 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370979 S 1 1 0 "" NA18507 esv267574 4 2541575 2541660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518008 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv878443 4 2568597 2701129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500862 S 6533 1 0 FAM193A SP50977 esv2524418 4 2585027 2586462 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257170 S 1 0 1 "" NA18507 nsv829839 4 2594220 2629408 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443331 S 95 0 1 FAM193A esv275488 4 2616929 2619735 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585490 S 1250 0 1 FAM193A nsv470001 4 2650313 2693329 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546246 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM193A HGDP00695 nsv878444 4 2659247 2830888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543418 S 6533 0 1 ADD1,FAM193A,SH3BP2,TNIP2 MS16153 nsv470002 4 2670896 2806426 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546248,nssv546247 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM193A,SH3BP2,TNIP2 HGDP00298,HGDP00302 dgv5426n71 4 2673844 2816597 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878447,nsv878446,nsv878448,nsv878445 M 6533 0 5 ADD1,FAM193A,SH3BP2,TNIP2 IS32322,IS33162,IS33504,MS10311,MS19630 nsv516797 4 2693329 2806426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694520,nssv658459,nssv700352,nssv670969,nssv658389 M 2026 0 5 FAM193A,SH3BP2,TNIP2 dgv5427n71 4 2714278 2830888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878450,nsv878449 M 6533 0 2 ADD1,SH3BP2,TNIP2 IS32841,IS37646 esv2189823 4 2719957 2720457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592647 S 1 0 1 TNIP2 NA18507 nsv878451 4 2755354 2826485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509815 S 6533 0 1 ADD1,SH3BP2 SP54956 nsv878452 4 2758982 2799874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511348 S 6533 0 1 SH3BP2 SP55021 nsv461162 4 2764118 2816597 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537593 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADD1,SH3BP2 HGDP00607 nsv291612 4 2813215 2813387 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310190 M 24 "" dgv313n21 4 2816597 2851054 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524060,nsv521858 M 2026 2 0 ADD1 nsv526059 4 2819940 2830888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702297 S 2026 0 1 ADD1 esv1007958 4 2873935 2884399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564171 S 3 0 1 ADD1 HuRef nsv461163 4 2876083 3204778 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537594 S 1557 1 0 ADD1,C4orf10,GRK4,HTT,MFSD10,NOP14 1780862404_A esv1551216 4 2917587 2917651 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765766 S 2 0 1 C4orf10,NOP14 HuRef esv1774334 4 2932407 2932468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239180 S 2 0 1 NOP14 HuRef nsv290690 4 2932545 2932613 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309268 M 24 NOP14 esv1601449 4 2932760 2932760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893820 S 2 1 0 NOP14 HuRef nsv878453 4 2933020 2991181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500443 S 6533 0 1 GRK4,NOP14 SP50690 esv273430 4 3023245 3023512 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580149,essv2579949,essv2580949,essv2579021,essv2579678 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv28565 4 3029554 3039234 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13277 S 451 1 0 "" NA18523 esv8475 4 3071083 3071417 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30916 S 1 0 1 HTT SJK nsv461164 4 3118814 3185633 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537595 S 1557 0 1 HTT 1780854205_A nsv524211 4 3185633 3240286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700098 S 2026 0 1 C4orf44,HTT nsv470003 4 3185633 3245282 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546249 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C4orf44,HTT HGDP00288 dgv5428n71 4 3185633 3280629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878458,nsv878454,nsv878459 M 6533 0 3 C4orf44,HTT IS41634,MS13770,SP54988 nsv878455 4 3185633 3314689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546546 S 6533 0 1 C4orf44,HTT,RGS12 MS17208 nsv878456 4 3185633 3437317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530494 S 6533 0 1 C4orf44,DOK7,HGFAC,HTT,RGS12 MS10311 nsv878457 4 3201459 3248315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543419 S 6533 0 1 C4orf44,HTT MS16153 nsv878460 4 3229952 3273774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532381 S 6533 0 1 "" MS10769 nsv878461 4 3240286 3308836 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576675 S 6533 0 1 RGS12 IS34235 nsv524212 4 3245282 3253220 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700099 S 2026 1 0 "" nsv461165 4 3253220 3311935 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537596 S 1557 0 1 RGS12 1780854479_A esv1318717 4 3265337 3265337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074929 S 2 1 0 "" HuRef esv1006501 4 3265464 3265474 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575595 S 3 1 0 "" HuRef esv1179165 4 3265508 3265508 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687443 S 2 1 0 "" HuRef esv2178894 4 3280479 3280882 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507363 S 1 0 1 "" NA18507 esv24342 4 3280503 3282168 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17698 S 451 1 4 "" NA07037,NA12489,NA18916,NA19129,NA19190 esv1560399 4 3280680 3280839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976716 S 2 0 1 "" HuRef nsv292231 4 3280688 3280846 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310809 M 24 "" nsv290212 4 3280832 3281044 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308790 M 24 "" esv1168581 4 3281099 3281205 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671768 S 2 0 1 "" HuRef esv1395816 4 3281344 3281394 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167158 S 2 0 1 "" HuRef nsv878462 4 3281346 3475246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543420 S 6533 0 1 DOK7,HGFAC,LRPAP1,RGS12 MS16153 esv1050019 4 3281502 3281502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322014 S 2 1 0 "" HuRef esv1001137 4 3281586 3281692 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579432 S 3 0 1 "" HuRef esv1191716 4 3281628 3281681 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777341 S 2 0 1 "" HuRef esv24279 4 3312725 3313457 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21245 S 451 4 0 RGS12 NA06985,NA18858,NA18907,NA19257 nsv878463 4 3333792 3468694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570697 S 6533 0 1 DOK7,HGFAC,RGS12 IS32322 nsv4201 4 3354479 3380808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4717 S 9 1 0 RGS12 NA19129 nsv428435 4 3356571 3593119 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454363 S 62 1 0 DOK7,FLJ35424,HGFAC,LRPAP1,RGS12 NA19113 esv2328657 4 3359532 3359986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882160 S 1 0 1 RGS12 NA18507 nsv290570 4 3363282 3363348 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309148 M 24 RGS12 essv879 4 3364142 3543543 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DOK7,HGFAC,LRPAP1,RGS12 NA19000 dgv1566e1 4 3364142 4401887 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1820,esv874 M 271 0 0 ADRA2C,DOK7,FAM86EP,FLJ35424,HGFAC,LOC100133461,LRPAP1,LYAR,OTOP1,RGS12,TMEM128,ZBTB49 NA18976 dgv637n27 4 3374963 3420907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461168,nsv461166,nsv461167 M 1557 0 3 HGFAC,RGS12 HGDP00330,HGDP00975,HGDP01191 nsv878464 4 3374963 3475246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532382 S 6533 0 1 DOK7,HGFAC,LRPAP1,RGS12 MS10769 dgv5429n71 4 3374963 3553857 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878465,nsv878470,nsv878477,nsv878469 M 6533 0 4 DOK7,FLJ35424,HGFAC,LRPAP1,RGS12 IS32737,IS39233,MS10123,SP54988 esv992281 4 3382826 3382826 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584944 S 3 1 0 RGS12 HuRef esv1688529 4 3382979 3382979 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4288037 S 2 1 0 RGS12 HuRef dgv5430n71 4 3383007 3424102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878467,nsv878472,nsv878466 M 6533 0 6 HGFAC,RGS12 IS32888,IS33504,IS35484,IS38176,IS40230,MS10698 dgv5431n71 4 3383007 3442937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878468,nsv878473 M 6533 0 4 DOK7,HGFAC,RGS12 IS37646,MS13095,MS13770,MS18276 nsv878471 4 3383007 3854796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546547 S 6533 0 1 ADRA2C,DOK7,FLJ35424,HGFAC,LOC100133461,LRPAP1,RGS12 MS17208 esv3639 4 3384426 3384866 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26080 S 1 0 1 Single Asian sample YH RGS12 YH dgv5432n71 4 3392009 3474360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878476,nsv878474,nsv878475 M 6533 0 3 DOK7,HGFAC,RGS12 IS33162,IS33684,MS11237 esv28164 4 3397171 3397841 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10522 S 451 1 0 RGS12 NA06985 esv1534592 4 3397574 3397733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714510 S 2 0 1 RGS12 HuRef nsv461169 4 3399654 3420907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537600 S 1557 0 1 HGFAC,RGS12 NINDS_51 nsv470004 4 3399654 3554171 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546257,nssv546255,nssv546256,nssv546252,nssv546251,nssv546250 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOK7,FLJ35424,HGFAC,LRPAP1,RGS12 HGDP00298,HGDP00550,HGDP00657,HGDP00661,HGDP00789,HGDP00825 nsv818208 4 3404134 3414301 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417849 S 112 0 1 HGFAC,RGS12 NA18853 nsv516505 4 3404134 3474360 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668735,nssv700507,nssv695086,nssv699348,nssv682140,nssv674645 M 2026 0 6 DOK7,HGFAC,RGS12 nsv10424 4 3407332 3438123 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13680 S 31 1 0 Samples from several populations that are part of the HapMap project. DOK7,HGFAC,RGS12 NA19221 nsv4202 4 3409328 3454671 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7063 S 9 0 1 DOK7,HGFAC,RGS12 NA12156 nsv829840 4 3414014 3592829 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443334,nssv1443333,nssv1443332,nssv1443335 M 95 0 4 DOK7,FLJ35424,HGFAC,LRPAP1 dgv5433n71 4 3417041 3543058 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878486,nsv878482,nsv878478,nsv878481 M 6533 0 5 DOK7,HGFAC,LRPAP1 IS33248,IS33455,IS41894,MS16315,SP54956 nsv4203 4 3425612 3459248 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7917,nssv4718 M 9 2 0 DOK7 NA12156,NA19129 nsv508992 4 3427319 3505217 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619366 S 4 1 0 DOK7,LRPAP1 NA10860 dgv5434n71 4 3431698 3474360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878479,nsv878480 M 6533 0 2 DOK7 IS32918,IS35484 nsv878483 4 3431698 3653067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597278 S 6533 0 1 DOK7,FLJ35424,LOC100133461,LRPAP1 IS40799 nsv10425 4 3437136 3444725 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12854,nssv13710 M 31 2 0 Samples from several populations that are part of the HapMap project. DOK7 NA18517,NA19221 nsv433362 4 3437317 3455584 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463243 S 9 1 0 Samples from several populations that are part of the HapMap project. DOK7 NA18517 esv27130 4 3437802 3444276 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9743 S 451 2 0 DOK7 NA18517,NA19129 nsv441855 4 3439242 3443433 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DOK7 nsv461170 4 3441552 3466738 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537601 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOK7 HGDP00934 essv14004 4 3441960 3480396 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DOK7,LRPAP1 NA19222 dgv5435n71 4 3442937 3474360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878487,nsv878484 M 6533 0 2 DOK7 IS30369,IS33239 nsv878485 4 3442937 3494855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534421 S 6533 0 1 DOK7,LRPAP1 MS11579 nsv10426 4 3449288 3537508 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13740,nssv12883 M 31 1 1 Samples from several populations that are part of the HapMap project. DOK7,LRPAP1 NA18504,NA19221 nsv878488 4 3450924 3480752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530495,nssv1531251,nssv1595362 M 6533 0 3 DOK7,LRPAP1 IS40230,MS10311,MS10386 dgv5436n71 4 3450924 3536365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878494,nsv878490,nsv878489 M 6533 0 3 DOK7,LRPAP1 IS37172,IS37646,MS10698 esv2223892 4 3454499 3454928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936109 S 1 0 1 DOK7 NA18507 esv1301117 4 3454715 3454803 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028385 S 2 0 1 DOK7 HuRef nsv293632 4 3454716 3454803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312210 M 24 DOK7 nsv461171 4 3455584 3492481 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537602 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOK7,LRPAP1 HGDP00461 nsv878491 4 3460126 3480752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549654 S 6533 0 1 DOK7,LRPAP1 MS18276 esv25516 4 3461818 3463239 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19545 S 451 0 3 DOK7 NA07037,NA18502,NA18907 nsv878492 4 3464049 3505800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564285 S 6533 0 1 DOK7,LRPAP1 IS30197 nsv878493 4 3464398 3474360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500583 S 6533 0 1 DOK7 SP50159 dgv21e24 4 3465655 3466920 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750539,esv2750588,esv2750641,esv2750745,esv2750750,esv2750564,esv2750728 M 51 0 7 DOK7 21603,21659,21721,21791,21805,22231,22286 nsv878495 4 3465948 3505800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573487 S 6533 1 0 DOK7,LRPAP1 IS33406 nsv829841 4 3472216 3633217 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443336 S 95 0 1 FLJ35424,LRPAP1 nsv822443 4 3472949 3473438 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436533 S 31 1 0 "" NA18542 esv1102085 4 3481184 3481239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075328 S 2 0 1 LRPAP1 HuRef esv1447823 4 3483557 3483610 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016502 S 2 0 1 LRPAP1 HuRef nsv293764 4 3483615 3483667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312342 M 24 LRPAP1 esv1183049 4 3494115 3494183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005061 S 2 0 1 LRPAP1 HuRef esv23621 4 3505250 3542622 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20749,esv11788 M 451 1 2 "" NA12156,NA12878,NA19240 nsv829842 4 3537551 3708859 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443349,nssv1443354,nssv1443348,nssv1443341,nssv1443355,nssv1443342,nssv1443338,nssv1443337,nssv1443356,nssv1443339,nssv1443344,nssv1443352,nssv1443353,nssv1443347,nssv1443343,nssv1443346,nssv1443350,nssv1443345 M 95 0 18 FLJ35424,LOC100133461 esv2647558 4 3542276 3575787 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171997 S 1 1 0 FLJ35424 NA18507 nsv512820 4 3545041 3545255 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625456 S 1 1 0 "" 1 esv1923697 4 3546143 3546533 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882093 S 1 0 1 "" NA18507 esv3934 4 3546168 3546482 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26375 S 1 0 1 Single Asian sample YH "" YH esv2198699 4 3549666 3550088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4763599 S 1 0 1 FLJ35424 NA18507 nsv292851 4 3551822 3551822 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311429 M 24 FLJ35424 dgv5437n71 4 3554171 3672279 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878496,nsv878498,nsv878500 M 6533 0 3 FLJ35424,LOC100133461 IS33162,IS33504,MS16153 dgv5438n71 4 3554171 3762007 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878497,nsv878501 M 6533 0 2 ADRA2C,FLJ35424,LOC100133461 IS33684,MS10311 dgv133n6 4 3563295 3563384 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292997,nsv290655 M 24 "" esv2561608 4 3565268 3566311 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378283 S 1 1 0 "" NA18507 esv1460167 4 3565623 3565623 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3924434 S 2 1 0 "" HuRef esv2246192 4 3566379 3566801 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901714 S 1 0 1 "" NA18507 nsv822444 4 3567766 3683819 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441001 S 31 1 0 LOC100133461 NA18969 esv25140 4 3569120 3571630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20580 S 451 0 6 "" NA12006,NA18502,NA18505,NA18909,NA19108,NA19114 nsv290018 4 3571261 3571261 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308596 M 24 "" nsv878499 4 3571907 3684457 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583617 S 6533 1 0 LOC100133461 IS36550 esv2477584 4 3578033 3580277 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346465 S 1 1 0 "" NA18507 esv2263465 4 3581263 3581735 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666190 S 1 0 1 "" NA18507 esv4034 4 3581409 3582133 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26475 S 1 0 0 Single Asian sample YH "" YH esv2249925 4 3581789 3582529 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587106 S 1 0 1 "" NA18507 esv9498 4 3581866 3582441 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31939 S 1 0 1 "" SJK esv2422803 4 3582694 3589365 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356505 S 1 0 1 "" NA18507 dgv88n16 4 3582712 3589442 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435793,nsv436400 M 2 0 2 "" NA15510,NA18505 esv2098582 4 3583025 3588528 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000447 S 1 0 1 "" NA18507 esv5090 4 3583103 3588474 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27531 S 1 0 1 Single Asian sample YH "" YH esv9567 4 3583108 3588423 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32008 S 1 0 1 "" SJK esv1525019 4 3584781 3585087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119074 S 2 0 1 "" HuRef esv2095219 4 3588415 3588844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872330 S 1 0 1 "" NA18507 essv3590 4 3593937 3684137 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100133461 NA18969 esv35161 4 3594173 3692357 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987039,essv6980217 M 771 1 0 LOC100133461 NA18969 esv2147979 4 3595791 3596171 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910321 S 1 0 1 "" NA18507 dgv5439n71 4 3597035 3704693 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878502,nsv878503,nsv878504 M 6533 0 3 LOC100133461 SP52676,SP52872,SP57347 nsv512821 4 3597269 3597377 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625457 S 1 1 0 "" 1 nsv10427 4 3637773 3642580 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11728,nssv12159,nssv13553 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA12740,NA18972,NA19144 dgv638n27 4 3640484 3684457 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461175,nsv461174 M 1557 0 2 LOC100133461 HGDP00546,HGDP01001 nsv10429 4 3646691 3648450 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12913,nssv12531,nssv12061,nssv12884 M 31 4 0 Samples from several populations that are part of the HapMap project. LOC100133461 NA18504,NA18517,NA18860,NA19240 dgv5440n71 4 3680780 3762007 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878506,nsv878505 M 6533 0 2 ADRA2C MS16153,MS18276 nsv521220 4 3683397 3683983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685670,nssv692008 M 2026 0 2 "" dgv5441n71 4 3707681 3854796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878507,nsv878508 M 6533 0 2 ADRA2C IS33162,MS11306 nsv519631 4 3724164 3749870 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660187,nssv676876,nssv690271,nssv678280,nssv657243,nssv677580,nssv688688,nssv692220 M 2026 0 8 ADRA2C nsv878509 4 3724164 3814902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589071 S 6533 0 1 ADRA2C IS38293 dgv854n67 4 3735524 3740605 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822445,nsv822446 M 31 2 0 ADRA2C NA18526,NA18972 esv26274 4 3737239 3740244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20504 S 451 0 1 ADRA2C NA07045 nsv433432 4 3749870 3762240 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463313 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv32745 4 3781871 3783668 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97257 S 51 1 0 "" 22075 nsv10430 4 3785992 3788458 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12048,nssv13583 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18972 esv2572958 4 3786048 3786702 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195885 S 1 1 0 "" NA18507 nsv10431 4 3788028 3789402 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29223 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 nsv10432 4 3795205 3801740 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12033 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv2009317 4 3797393 3797948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911619 S 1 0 1 "" NA18507 esv5396 4 3797465 3797873 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27837 S 1 0 1 Single Asian sample YH "" YH nsv822447 4 3797545 3798274 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441002 S 31 1 0 "" NA18969 esv1378982 4 3797580 3797770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907506 S 2 0 1 "" HuRef esv22860 4 3799581 3800591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11773 S 451 0 5 "" NA11931,NA18502,NA18505,NA19190,NA19240 nsv292790 4 3808539 3808591 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311368 M 24 "" esv1589193 4 3831053 3831053 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821564 S 2 1 0 "" HuRef esv1557524 4 3831132 3831197 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161887 S 2 0 1 "" HuRef nsv290446 4 3831133 3831197 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309024 M 24 "" nsv10433 4 3839316 3842861 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12914,nssv12943 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517 nsv517008 4 3968061 4250661 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656521,nssv673095,nssv698260,nssv687622,nssv705183,nssv677878,nssv660978,nssv659839,nssv653604,nssv690412,nssv677344,nssv661794 M 2026 2 10 FAM86EP,OTOP1 esv2396790 4 3994053 3994427 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834213 S 1 0 1 "" NA18507 nsv878510 4 4004281 4234832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592604 S 6533 1 0 FAM86EP IS39243 dgv5442n71 4 4062134 4163903 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878512,nsv878511 M 6533 2 0 "" IS30372,SP54083 nsv508270 4 4062597 4243226 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622478 S 4 0 1 OTOP1 NA18994 esv2104781 4 4091971 4092523 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886367 S 1 0 1 "" NA18507 esv1204722 4 4092132 4092470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800099 S 2 0 1 "" HuRef esv1006563 4 4092911 4102376 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563763 S 3 0 1 "" HuRef nsv10434 4 4102107 4105995 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12702 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv469857 4 4103493 4292827 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649878 M 265 0 0 Samples from several populations that are part of the HapMap project. OTOP1,TMEM128 esv1254164 4 4121299 4121299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666008 S 2 1 0 "" HuRef esv1279790 4 4121361 4121361 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049244 S 2 1 0 "" HuRef esv1094658 4 4121536 4121536 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011558 S 2 1 0 "" HuRef esv1549383 4 4121679 4121737 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851450 S 2 0 1 "" HuRef nsv4204 4 4147963 4230036 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10390,nssv4719,nssv3230 M 9 0 3 "" NA12878,NA18956,NA19129 esv25958 4 4173527 4203812 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10017,esv18909 M 451 0 2 "" NA12156,NA12749 nsv499029 4 4179519 4210230 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585890 S 9 0 1 "" nsv10435 4 4187244 4199720 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11466 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 nsv822448 4 4262609 4292868 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426579 S 31 1 0 OTOP1,TMEM128 AK6 nsv10436 4 4278684 4280266 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11695 S 31 0 1 Samples from several populations that are part of the HapMap project. OTOP1 NA18980 esv2327551 4 4305814 4306335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965431 S 1 0 1 "" NA18507 nsv10437 4 4339021 4345588 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11725 S 31 1 0 Samples from several populations that are part of the HapMap project. LYAR,ZBTB49 NA18980 nsv4205 4 4359600 4390302 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv365 S 9 1 0 ZBTB49 NA19240 esv34196 4 4366499 8683946 OTHER Inversion Giglio et al 2002 12058347 FISH Not Provided "" S 7 ABLIM2,ACOX3,AFAP1,AFAP1-AS1,C4orf6,CCDC96,CNO,CPZ,CRMP1,CYTL1,D4S234E,EVC,EVC2,FLJ36777,GPR78,GRPEL1,HTRA3,JAKMIP1,KIAA0232,LOC100129931,LOC100507266,LOC285484,LOC93622,MAN2B2,METTL19,MIR378D1,MIR4274,MIR4798,MRFAP1,MRFAP1L1,MSX1,PPP2R2C,PSAPL1,S100P,SH3TC1,SORCS2,STK32B,STX18,TADA2B,TBC1D14,WFS1,ZBTB49 nsv461176 4 4394141 4406281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537606 S 1557 0 1 "" NINDS_20 esv1157593 4 4401638 4401638 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3769840 S 2 1 0 "" HuRef nsv519201 4 4405679 4409616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696685 S 2026 0 1 "" nsv523027 4 4406281 4411282 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698707 S 2026 1 0 "" esv1703755 4 4410573 4410573 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692356 S 2 1 0 "" HuRef nsv436440 4 4450715 4457515 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466074 S 2 0 1 Samples from several populations that are part of the HapMap project. D4S234E NA18505 nsv292541 4 4464825 4466761 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311119 M 24 D4S234E esv25965 4 4465340 4466740 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12875 S 451 0 1 D4S234E NA11894 nsv528931 4 4542625 4553662 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705621 S 2026 1 0 STX18 nsv521279 4 4584875 4686177 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691632,nssv692299 M 2026 0 2 LOC100507266,STX18 esv2547368 4 4618144 4620035 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175344 S 1 0 1 LOC100507266 NA18507 esv2144946 4 4618720 4619732 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667240 S 1 0 1 LOC100507266 NA18507 nsv292566 4 4618943 4619540 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311144 M 24 LOC100507266 esv21817 4 4618969 4619476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19734 S 451 0 3 LOC100507266 NA18502,NA18909,NA19114 nsv821107 4 4618969 4619476 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420390 S 1 1 0 LOC100507266 NA10851 nsv829843 4 4647778 4804635 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443357 S 95 0 1 LOC100507266 esv269547 4 4830885 4831258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510795,essv2496317 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18511 esv23841 4 4870157 4870607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10594 S 451 0 1 "" NA18907 nsv518407 4 4968412 4983726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695838 S 2026 0 1 "" nsv526879 4 4983726 4986106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703237 S 2026 0 1 "" nsv4206 4 5032848 5066166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2446 S 9 1 0 "" NA18555 esv1526304 4 5117037 5117191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984982 S 2 0 1 STK32B HuRef nsv521349 4 5124930 5129547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697959 S 2026 0 1 STK32B esv9538 4 5132941 5133463 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31979 S 1 0 0 STK32B SJK nsv878513 4 5161041 5377371 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593295 S 6533 1 0 STK32B IS39394 nsv878514 4 5167148 5240879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566576 S 6533 0 1 STK32B IS30814 nsv527143 4 5172351 5173381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703531 S 2026 0 1 STK32B nsv471805 4 5196381 5196471 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646086 M 1.152 95 STK32B esv1007800 4 5196398 5196459 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576861 S 3 0 1 STK32B HuRef dgv134n6 4 5196399 5196460 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290099,nsv293566 M 24 STK32B esv2752049 4 5213289 5485050 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985861,essv6985860,essv6990158,essv6989506,essv6985862 M 771 0 1 STK32B SPC_7 nsv878515 4 5332688 5451739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517291 S 6533 1 0 STK32B SP57243 esv3269 4 5343407 5343931 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25710 S 1 0 0 Single Asian sample YH STK32B YH esv1790419 4 5369170 5369270 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942643 S 2 0 1 STK32B HuRef esv23244 4 5438144 5439133 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14791 S 451 0 1 STK32B NA18505 dgv639n27 4 5441161 5454446 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461179,nsv461180 M 1557 0 2 STK32B HGDP00897,NINDS_173 nsv878516 4 5446868 5555175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549041,nssv1556819 M 6533 2 0 STK32B MS18003,MS22207 nsv527989 4 5448332 5451739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704512 S 2026 1 0 STK32B nsv878517 4 5465032 5511959 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543924 S 6533 1 0 STK32B MS16160 nsv878518 4 5475642 5659316 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593296 S 6533 1 0 C4orf6,EVC2,STK32B IS39394 nsv878519 4 5499330 5555175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557459 S 6533 0 1 STK32B MS22705 nsv520417 4 5508196 5531238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671327,nssv689813 M 2026 0 2 STK32B nsv461181 4 5511959 5520711 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537609 S 1557 0 1 STK32B 1780862433_A nsv522680 4 5556034 5605035 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706088 S 2026 1 0 C4orf6 nsv526713 4 5580135 5605035 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703053 S 2026 1 0 C4orf6 nsv4207 4 5614886 5646746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10391 S 9 1 0 EVC2 NA18956 esv2422511 4 5633767 5698188 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161304 S 181 0 1 EVC2 ND01708 esv29396 4 5665597 5670934 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10019 S 451 0 1 EVC2 NA18916 esv1000819 4 5707838 5715484 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565210 S 3 0 1 EVC2 HuRef nsv523706 4 5733090 5738529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699515 S 2026 0 1 EVC2 nsv508993 4 5740770 5796721 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623406,nssv619367 M 4 2 0 EVC,EVC2 NA10860,NA18994 nsv829844 4 5772005 5978013 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443358 S 95 1 0 CRMP1,EVC,MIR378D1 nsv461182 4 5786204 5832885 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537610 S 1557 0 1 EVC NINDS_36 nsv520004 4 5794410 5794682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697173 S 2026 0 1 EVC nsv522904 4 5805016 5809784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698562 S 2026 0 1 EVC dgv314n21 4 5809770 5823956 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524558,nsv523234 M 2026 0 2 EVC esv21689 4 5812930 5814463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11490 S 451 0 1 EVC NA18909 nsv517345 4 5813062 5830218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663988,nssv657283,nssv660795,nssv651788,nssv654451,nssv663252,nssv669310,nssv657622,nssv670173 M 2026 0 9 EVC nsv519748 4 5860088 5863467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674837,nssv658132,nssv672685,nssv662739,nssv676491,nssv690919,nssv679363 M 2026 0 7 EVC esv991561 4 5864407 5864464 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574551 S 3 0 1 EVC HuRef esv1097941 4 5864412 5864470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656283 S 2 0 1 EVC HuRef esv1296377 4 5864787 5864787 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648898 S 2 1 0 EVC HuRef esv7115 4 5885772 5886092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29556 S 1 0 1 CRMP1 SJK esv2279377 4 5914722 5915180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983063 S 1 0 1 CRMP1 NA18507 nsv293630 4 5914916 5915002 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312208 M 24 CRMP1 nsv829845 4 5922696 6141425 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443359 S 95 0 1 CRMP1,JAKMIP1,MIR378D1 nsv822449 4 5939419 5947019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432766 S 31 1 0 CRMP1 NA18972 esv29375 4 5940562 5949775 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10231,esv12172 M 451 1 1 CRMP1 NA12156,NA18505 nsv441856 4 5946326 5948393 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv525088 4 5970610 5977452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701146 S 2026 0 1 MIR378D1 nsv524886 4 5987471 5994593 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700892 S 2026 1 0 "" nsv518662 4 5990100 5993873 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696112 S 2026 0 1 "" nsv4208 4 6028653 6061889 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4720 S 9 1 0 "" NA19129 nsv4209 4 6071556 6104937 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7918 S 9 1 0 JAKMIP1 NA12156 esv23305 4 6089266 6091196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15100 S 451 0 6 JAKMIP1 NA12828,NA18502,NA18505,NA18508,NA19225,NA19240 esv2324557 4 6089361 6090400 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873125 S 1 0 1 JAKMIP1 NA18507 nsv290545 4 6089602 6089602 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309123 M 24 JAKMIP1 esv1003999 4 6089834 6090068 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583170 S 3 0 1 JAKMIP1 HuRef esv998642 4 6090974 6091041 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573574 S 3 0 1 JAKMIP1 HuRef nsv461185 4 6093633 6116331 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537612 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations JAKMIP1 HGDP00515 nsv878520 4 6109633 6205787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546548 S 6533 0 1 JAKMIP1 MS17208 esv992225 4 6120206 6120206 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577192 S 3 1 0 JAKMIP1 HuRef nsv470005 4 6123823 6164460 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546258 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations JAKMIP1 HGDP01223 nsv829846 4 6129133 6293125 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443360 S 95 0 1 JAKMIP1,LOC285484 nsv4211 4 6141567 6175205 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv366 S 9 1 0 JAKMIP1 NA19240 nsv290071 4 6151159 6151318 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308649 M 24 JAKMIP1 esv27261 4 6190841 6193747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17340 S 451 0 1 JAKMIP1 NA19099 nsv292531 4 6213901 6213901 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311109 M 24 JAKMIP1 esv2213984 4 6223149 6223666 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897476 S 1 0 1 JAKMIP1 NA18507 dgv855n67 4 6252651 6253434 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822451,nsv822450 M 31 3 0 JAKMIP1,LOC285484 NA18969,NA18972,NA18997 nsv469711 4 6262648 6436998 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649732 M 265 0 30 Samples from several populations that are part of the HapMap project. LOC285484,PPP2R2C,WFS1 dgv640n27 4 6307390 6354255 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461186,nsv461187 M 1557 0 2 WFS1 HGDP00817,HGDP01190 nsv4212 4 6309467 6342932 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3231 S 9 1 0 WFS1 NA12878 nsv878521 4 6315869 6363076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546549 S 6533 0 1 WFS1 MS17208 nsv878522 4 6315869 6451761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543423 S 6533 0 1 PPP2R2C,WFS1 MS16153 esv1010760 4 6328452 6344147 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563772 S 3 0 1 WFS1 HuRef esv270491 4 6343303 6343570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497189,essv2500010 M 157 2 0 Samples from several populations that are part of the HapMap project. WFS1 NA18552,NA18558 nsv878523 4 6354255 6407414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534691 S 6533 0 1 PPP2R2C,WFS1 MS11726 nsv878524 4 6354581 6366855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499627 S 6533 0 1 WFS1 SP50159 esv2223041 4 6382055 6382473 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574884 S 1 0 1 PPP2R2C NA18507 nsv290117 4 6389377 6389556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308695 M 24 PPP2R2C dgv856n67 4 6389739 6392621 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822452,nsv822454 M 31 0 2 PPP2R2C NA18947,NA18972 nsv10438 4 6402551 6405198 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12908 S 31 1 0 Samples from several populations that are part of the HapMap project. PPP2R2C NA12155 esv1422471 4 6406417 6406466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700310 S 2 0 1 PPP2R2C HuRef nsv829847 4 6439875 6611386 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443361 S 95 1 0 PPP2R2C nsv878525 4 6441104 6532061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546550 S 6533 0 1 PPP2R2C MS17208 esv268203 4 6441213 6441358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512431,essv2495376,essv2510316,essv2494225,essv2504328,essv2498446,essv2505782,essv2495553,essv2512356,essv2500557,essv2502745,essv2500731,essv2505650,essv2506447,essv2499073,essv2499842 M 157 16 0 Samples from several populations that are part of the HapMap project. PPP2R2C NA12043,NA12287,NA12414,NA18502,NA18505,NA18858,NA18861,NA18916,NA18949,NA18956,NA18965,NA18973,NA19005,NA19108,NA19114,NA19225 nsv4213 4 6450851 6484484 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3122 S 9 1 0 PPP2R2C NA18555 esv27681 4 6492852 6493957 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11234 S 451 1 0 PPP2R2C NA19114 esv23635 4 6524792 6525367 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18347 S 451 0 1 PPP2R2C NA12878 nsv527210 4 6538627 6539606 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703610 S 2026 1 0 PPP2R2C nsv4214 4 6546197 6567955 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3123 S 9 1 0 PPP2R2C NA18555 nsv829849 4 6556449 6750856 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443363 S 95 0 1 LOC93622,MAN2B2,MRFAP1,PPP2R2C,S100P nsv291891 4 6591778 6595330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310469 M 24 PPP2R2C nsv878526 4 6609330 6667849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549656 S 6533 0 1 MAN2B2,PPP2R2C MS18276 esv28719 4 6615708 6616900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21105 S 451 0 1 PPP2R2C NA12878 nsv292992 4 6622376 6622751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311570 M 24 "" nsv461189 4 6629388 6664153 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537615 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAN2B2 HGDP00546 nsv470006 4 6629388 6667849 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546259 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAN2B2 HGDP00546 nsv878527 4 6629388 6676472 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547166 S 6533 1 0 MAN2B2 MS17221 nsv526206 4 6647377 6652643 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702469 S 2026 1 0 MAN2B2 dgv1567e1 4 6658731 6671892 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv887,essv24097 M 271 0 0 MAN2B2 NA07048 nsv4215 4 6661137 6705422 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2447 S 9 0 1 MAN2B2,MRFAP1 NA18555 nsv10440 4 6668057 6672823 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12063 S 31 0 1 Samples from several populations that are part of the HapMap project. MAN2B2 NA07048 essv23633 4 6669905 6671892 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MAN2B2 NA07055 nsv10441 4 6674177 6678823 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12561 S 31 0 1 Samples from several populations that are part of the HapMap project. MAN2B2 NA18860 esv28819 4 6675424 6676540 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15950 S 451 0 1 "" NA18508 nsv511243 4 6701467 6714220 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624600 S 1 0 1 "" 1 nsv878528 4 6701467 6737015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509817 S 6533 0 1 LOC93622 SP54956 esv25605 4 6702165 6703814 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15930,esv15829 M 451 8 6 "" NA11993,NA12006,NA12156,NA12239,NA12878,NA15510,NA18508,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19225 nsv513118 4 6702426 6703838 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626609 S 1 0 1 "" 1 esv5583 4 6702486 6703837 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28024 S 1 0 1 "" SJK nsv821390 4 6702809 6703950 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420392 S 1 0 1 "" NA10851 nsv822455 4 6703481 6703991 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439229,nssv1433588 M 31 2 0 "" NA18526,NA18547 nsv511252 4 6731478 6738014 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624699 S 1 0 1 "" 1 dgv857n67 4 6732903 6736329 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822456,nsv822460,nsv822458,nsv822463 M 31 0 14 "" AK14,AK2,NA18526,NA18537,NA18547,NA18552,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18997 dgv858n67 4 6732903 6736961 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822459,nsv822461,nsv822457,nsv822462 M 31 0 14 "" AK10,AK12,AK16,AK18,AK20,AK4,AK6,AK8,NA18542,NA18564,NA18570,NA18951,NA18973,NA18999 nsv821548 4 6732903 6736961 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420393 S 1 0 1 "" NA10851 nsv513119 4 6733094 6737089 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626611 S 1 0 1 "" 1 esv26551 4 6733229 6736218 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15287 S 451 27 1 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA18502,NA18508,NA18523,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19190,NA19225,NA19257 esv2964 4 6733230 6736951 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25405 S 1 0 1 Single Asian sample YH "" YH dgv119e180 4 6733275 6736329 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010984,esv1000237 M 3 1 0 "" HuRef nsv436446 4 6733297 6736755 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466075 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv23947 4 6834941 6836492 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13184 S 451 0 1 KIAA0232 NA12878 nsv526314 4 6861821 6919056 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702598 S 2026 1 0 KIAA0232 nsv519565 4 6887563 6911952 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676697,nssv703985,nssv672381,nssv656901 M 2026 3 1 KIAA0232 nsv4216 4 6927493 6966530 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7920,nssv4668 M 9 0 2 KIAA0232,TBC1D14 NA12156,NA19129 esv1098216 4 6932457 6932457 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068329 S 2 1 0 KIAA0232 HuRef esv23110 4 6932493 6932948 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11020 S 451 2 0 KIAA0232 NA12239,NA12749 esv1704198 4 6932965 6932965 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603490 S 2 1 0 KIAA0232 HuRef nsv878529 4 6933913 7034578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543424 S 6533 0 1 KIAA0232,TBC1D14 MS16153 nsv878530 4 6939833 7109374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546551 S 6533 0 1 CCDC96,LOC100129931,TADA2B,TBC1D14 MS17208 esv25000 4 6946083 6951471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18180,esv14269 M 451 0 25 "" NA07037,NA11894,NA11993,NA11995,NA12006,NA12156,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA18505,NA18508,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv2551916 4 6947282 6951677 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273105 S 1 0 1 "" NA18507 esv1006929 4 6947933 6951386 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565640 S 3 0 1 "" HuRef nsv822465 4 6948184 6950606 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438090,nssv1435806,nssv1440287,nssv1437376,nssv1435021,nssv1434357,nssv1439619,nssv1427428,nssv1424910,nssv1421636,nssv1425743,nssv1423329,nssv1431246,nssv1428204,nssv1432770,nssv1438751,nssv1424124,nssv1428980,nssv1439251 M 31 0 19 "" AK10,AK12,AK18,AK2,AK8,NA18537,NA18547,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18997,NA18999 nsv290080 4 6948186 6951235 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308658 M 24 "" nsv514195 4 6948383 6950465 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627632 S 1414 0 1 "" nsv511258 4 6948451 6950579 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624766 S 1 1 0 "" 1 esv34033 4 7024171 7441522 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CCDC96,FLJ36777,GRPEL1,LOC100129931,MIR4798,SORCS2,TADA2B,TBC1D14 esv1699116 4 7030396 7030476 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805118 S 2 0 1 TBC1D14 HuRef dgv1568e1 4 7039049 7320802 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8215,essv16696,essv15262,essv14158,essv13695,essv11782,esv85,essv11576,essv17079,essv11276 M 271 0 0 CCDC96,FLJ36777,GRPEL1,LOC100129931,SORCS2,TADA2B,TBC1D14 NA18504,NA19094,NA19116,NA19119,NA19140,NA19142,NA19172,NA19173,NA19204 nsv428436 4 7039049 7320802 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454372,nssv454373,nssv454371 M 62 3 0 CCDC96,FLJ36777,GRPEL1,LOC100129931,SORCS2,TADA2B,TBC1D14 HGDP00463,HGDP01087,NA19147 nsv469847 4 7054426 7219342 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649868 M 265 0 0 Samples from several populations that are part of the HapMap project. CCDC96,FLJ36777,GRPEL1,LOC100129931,TADA2B,TBC1D14 nsv878531 4 7057442 7180457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537066 S 6533 0 1 CCDC96,FLJ36777,GRPEL1,LOC100129931,TADA2B,TBC1D14 MS13095 nsv878532 4 7061405 7106504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576676 S 6533 0 1 CCDC96,LOC100129931,TADA2B,TBC1D14 IS34235 esv2105831 4 7072170 7072574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725793 S 1 0 1 TBC1D14 NA18507 nsv878533 4 7083081 7114425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585829 S 6533 0 1 CCDC96,GRPEL1,LOC100129931,TADA2B,TBC1D14 IS37646 nsv4217 4 7086413 7131131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7921 S 9 0 1 CCDC96,GRPEL1,LOC100129931,TADA2B NA12156 esv26516 4 7094880 7096895 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14348 S 451 0 2 CCDC96,LOC100129931,TADA2B NA12749,NA12878 nsv878534 4 7135886 7172781 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520509 S 6533 1 0 FLJ36777 SP51105 dgv5443n71 4 7144735 7193769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878535,nsv878536 M 6533 0 2 FLJ36777 IS35484,MS16153 nsv461191 4 7153498 7179902 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537616 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ36777 HGDP00857 dgv5444n71 4 7153498 7209368 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878538,nsv878537 M 6533 0 2 FLJ36777 MS10311,MS18276 nsv470007 4 7159983 7193871 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546260 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00661 nsv829850 4 7163410 7364917 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443365,nssv1443364 M 95 0 2 MIR4798,SORCS2 nsv878539 4 7172781 7214306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546552 S 6533 0 1 "" MS17208 esv1542370 4 7183963 7183963 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099629 S 2 1 0 "" HuRef esv2432874 4 7196306 7200989 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218203 S 1 0 1 "" NA18507 esv2346656 4 7196868 7200833 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811858 S 1 0 1 "" NA18507 esv29158 4 7196921 7200603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17572 S 451 0 1 "" NA18861 esv28983 4 7217659 7218231 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17085 S 451 3 0 "" NA18502,NA18523,NA19114 nsv820412 4 7217659 7218231 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420394 S 1 1 0 "" NA10851 nsv291209 4 7217934 7218047 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309787 M 24 "" nsv461196 4 7221463 7242681 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537618 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01300 nsv520086 4 7234885 7235271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660570,nssv677819 M 2026 0 2 "" nsv461197 4 7234885 7273263 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537619 S 1557 0 1 SORCS2 1780862416_A nsv878540 4 7237158 7282683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585830 S 6533 0 1 SORCS2 IS37646 nsv508994 4 7259416 7555556 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619368,nssv623407 M 4 2 0 MIR4274,MIR4798,PSAPL1,SORCS2 NA10860,NA18994 nsv878541 4 7262098 7392144 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560387 S 6533 1 0 MIR4798,SORCS2 MS24459 esv23563 4 7264966 7276737 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19322,esv11868 M 451 7 0 SORCS2 NA11993,NA11995,NA12004,NA12006,NA12749,NA18909,NA19108 nsv878542 4 7265597 7327442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530498 S 6533 0 1 SORCS2 MS10311 esv993203 4 7269267 7275382 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586434 S 3 1 0 SORCS2 HuRef nsv4218 4 7276097 7320958 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4722 S 9 0 1 SORCS2 NA19129 esv1258015 4 7282857 7282922 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969358 S 2 0 1 SORCS2 HuRef nsv291426 4 7282954 7283018 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310004 M 24 SORCS2 esv991612 4 7283252 7283316 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573149 S 3 0 1 SORCS2 HuRef esv1533109 4 7283326 7283391 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152408 S 2 0 1 SORCS2 HuRef nsv461199 4 7304161 7321027 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537620 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SORCS2 HGDP01283 nsv291540 4 7308438 7308521 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310118 M 24 SORCS2 esv1010050 4 7308483 7308587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567773 S 3 0 1 SORCS2 HuRef esv1352937 4 7308499 7308604 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213862 S 2 0 1 SORCS2 HuRef esv1005726 4 7320636 7323467 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564039 S 3 1 0 SORCS2 HuRef dgv5445n71 4 7333407 7427595 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878551,nsv878543,nsv878545,nsv878550,nsv878549,nsv878544,nsv878547,nsv878546 M 6533 9 0 MIR4798,SORCS2 MS13362,MS16066,MS16796,MS17043,MS17449,MS19466,MS22343,MS24239,MS25052 nsv878548 4 7346055 7384053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537256 S 6533 1 0 MIR4798,SORCS2 MS13143 esv24474 4 7370995 7372624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18191 S 451 0 1 SORCS2 NA12004 nsv878552 4 7372412 7392144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530499 S 6533 0 1 SORCS2 MS10311 nsv878553 4 7372412 7427595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549359 S 6533 1 0 SORCS2 MS18201 dgv5446n71 4 7374351 7390279 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878554,nsv878556,nsv878555 M 6533 0 3 SORCS2 IS40799,MS16153,SP50159 nsv878557 4 7375903 7399494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534044 S 6533 1 0 SORCS2 MS11435 nsv878558 4 7380327 7414853 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545440 S 6533 1 0 SORCS2 MS16793 esv3748 4 7388963 7389476 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26189 S 1 0 1 Single Asian sample YH SORCS2 YH esv2351379 4 7388978 7389489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874713 S 1 0 1 SORCS2 NA18507 esv1005920 4 7389103 7389326 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569069 S 3 0 1 SORCS2 HuRef nsv878559 4 7403953 7427595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537257 S 6533 1 0 SORCS2 MS13143 nsv469758 4 7420984 7597150 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649779 M 265 0 0 Samples from several populations that are part of the HapMap project. MIR4274,PSAPL1,SORCS2 esv1046425 4 7439731 7439820 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836275 S 2 0 1 SORCS2 HuRef esv1514799 4 7439925 7440120 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997263 S 2 0 1 SORCS2 HuRef nsv878560 4 7453185 7526014 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560388 S 6533 1 0 MIR4274,PSAPL1,SORCS2 MS24459 dgv5447n71 4 7453185 7595510 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878563,nsv878561,nsv878564 M 6533 0 3 MIR4274,PSAPL1,SORCS2 MS13770,MS16153,MS17208 nsv878562 4 7465127 7489252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530500 S 6533 0 1 PSAPL1,SORCS2 MS10311 nsv878565 4 7472399 7506218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549658 S 6533 0 1 PSAPL1,SORCS2 MS18276 nsv470008 4 7473935 7483478 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546261 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSAPL1,SORCS2 HGDP00546 nsv461203 4 7474652 7485508 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537621 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSAPL1,SORCS2 HGDP00491 nsv461204 4 7478800 7489252 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537622 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSAPL1,SORCS2 HGDP00788 nsv461205 4 7484918 7493026 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537623 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSAPL1,SORCS2 HGDP00774 esv24504 4 7494155 7495320 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17713 S 451 2 2 SORCS2 NA11993,NA12156,NA19108,NA19129 esv27263 4 7504127 7508588 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18305 S 451 0 5 SORCS2 NA12776,NA18502,NA19108,NA19147,NA19225 nsv292306 4 7507419 7508071 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310884 M 24 SORCS2 dgv5448n71 4 7507617 7595510 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878567,nsv878566 M 6533 0 2 MIR4274,SORCS2 MS10123,MS10311 nsv520804 4 7524763 7526014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679809,nssv675645 M 2026 0 2 SORCS2 nsv527419 4 7530977 7531322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703857 S 2026 0 1 SORCS2 esv34002 4 7532298 7559394 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SORCS2 nsv291240 4 7534510 7534745 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309818 M 24 SORCS2 esv26887 4 7534541 7535511 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11461 S 451 0 3 SORCS2 NA12878,NA18502,NA18916 nsv820610 4 7534541 7535511 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420395 S 1 0 1 SORCS2 NA10851 esv999654 4 7534840 7535036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571814 S 3 0 1 SORCS2 HuRef esv1007737 4 7538900 7538900 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567519 S 3 1 0 SORCS2 HuRef esv1009076 4 7538947 7538947 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584793 S 3 1 0 SORCS2 HuRef esv1161122 4 7538948 7538948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105292 S 2 1 0 SORCS2 HuRef nsv290990 4 7538949 7538949 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309568 M 24 SORCS2 nsv878568 4 7541146 7580267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533742,nssv1534692 M 6533 0 2 SORCS2 MS11306,MS11726 esv7927 4 7547566 7550619 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30368 S 1 0 1 SORCS2 SJK nsv878569 4 7547757 7595510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549659,nssv1575015 M 6533 0 2 SORCS2 IS33684,MS18276 esv25923 4 7549162 7549876 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11566 S 451 1 0 SORCS2 NA18909 nsv526748 4 7572702 7574409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703094 S 2026 0 1 SORCS2 dgv641n27 4 7572702 7595779 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461208,nsv461209,nsv461207 M 1557 0 3 SORCS2 HGDP00788,HGDP01027,HGDP01339 esv2024202 4 7575154 7575753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857692 S 1 0 1 SORCS2 NA18507 esv2920 4 7575307 7575664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25361 S 1 0 1 Single Asian sample YH SORCS2 YH esv8036 4 7575371 7575574 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30477 S 1 0 1 SORCS2 SJK esv34156 4 7577415 7801488 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SORCS2 esv1111596 4 7578497 7578555 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068463 S 2 0 1 SORCS2 HuRef esv25539 4 7580169 7580759 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11390 S 451 0 1 SORCS2 NA18909 dgv642n27 4 7581351 7599762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461210,nsv461211 M 1557 0 2 SORCS2 HGDP00784,HGDP00857 nsv528667 4 7584574 7598447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705305 S 2026 0 1 SORCS2 nsv878570 4 7585503 7887735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560389 S 6533 1 0 AFAP1,AFAP1-AS1,SORCS2 MS24459 nsv524838 4 7586474 7587929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700840 S 2026 0 1 SORCS2 esv267658 4 7620039 7620338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522863,essv2531835,essv2555073,essv2558801,essv2539039,essv2527163,essv2566969,essv2551143,essv2539401,essv2533977,essv2529700,essv2575447,essv2575082,essv2524122,essv2560381,essv2549873,essv2563103 M 157 17 0 Samples from several populations that are part of the HapMap project. SORCS2 NA10847,NA11931,NA12006,NA12872,NA18516,NA18519,NA18522,NA18853,NA18858,NA18912,NA18916,NA19093,NA19099,NA19102,NA19129,NA19190,NA19225 nsv508272 4 7642867 7773012 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619932 S 4 0 1 SORCS2 NA15510 nsv508995 4 7642867 7773012 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619369 S 4 1 0 SORCS2 NA10860 dgv859n67 4 7649633 7650487 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822466,nsv822467 M 31 5 0 SORCS2 AK14,AK16,AK18,AK2,AK6 nsv820732 4 7649633 7650487 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420396 S 1 0 1 SORCS2 NA10851 nsv517503 4 7683230 7690806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656522,nssv652206 M 2026 0 2 SORCS2 nsv513120 4 7685377 7687472 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626612 S 1 0 1 SORCS2 1 esv23725 4 7686159 7686684 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13183 S 451 1 0 SORCS2 NA19114 esv4108 4 7686318 7687019 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26549 S 1 0 1 Single Asian sample YH SORCS2 YH esv1317344 4 7686412 7686753 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366146 S 2 0 1 SORCS2 HuRef nsv878571 4 7688197 7794183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546554 S 6533 0 1 SORCS2 MS17208 nsv4219 4 7723873 7745700 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7922 S 9 0 1 SORCS2 NA12156 esv3110 4 7729313 7729717 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25551 S 1 0 1 Single Asian sample YH SORCS2 YH nsv290116 4 7729428 7729534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308694 M 24 SORCS2 esv1391135 4 7729454 7729533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131170 S 2 0 1 SORCS2 HuRef esv988567 4 7729462 7729582 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576832 S 3 0 1 SORCS2 HuRef dgv5449n71 4 7744369 7781292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878573,nsv878572 M 6533 0 2 SORCS2 MS10311,MS18276 esv26900 4 7758637 7759577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13008 S 451 0 1 SORCS2 NA07037 nsv293826 4 7764477 7765579 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312404 M 24 SORCS2 dgv5450n71 4 7766081 7802794 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878576,nsv878574 M 6533 0 3 SORCS2 IS33504,IS33684,MS16153 nsv878575 4 7766081 7818655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592143 S 6533 0 1 AFAP1,AFAP1-AS1,SORCS2 IS39233 nsv291783 4 7776774 7777228 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310361 M 24 SORCS2 esv4191 4 7776837 7777493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26632 S 1 0 1 Single Asian sample YH SORCS2 YH esv8000 4 7777305 7777419 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30441 S 1 0 1 SORCS2 SJK nsv819855 4 7777648 7777929 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418888 S 2 1 0 SORCS2 AK1 esv994470 4 7801305 7801370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580569 S 3 0 1 "" HuRef nsv289454 4 7801305 7801370 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308032 M 24 "" esv1271122 4 7801373 7801439 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334711 S 2 0 1 "" HuRef nsv290242 4 7805588 7805588 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308820 M 24 "" nsv878577 4 7808550 7822101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530503 S 6533 0 1 AFAP1,AFAP1-AS1 MS10311 nsv822468 4 7815313 7815768 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428205 S 31 1 0 AFAP1,AFAP1-AS1 AK10 esv34140 4 7838836 8223391 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ABLIM2,AFAP1 esv2144252 4 7850629 7851070 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792097 S 1 0 1 AFAP1 NA18507 nsv291019 4 7850701 7850840 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309597 M 24 AFAP1 nsv522369 4 7877724 7882877 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695149 S 2026 1 0 AFAP1 esv23167 4 7887358 7888726 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19281 S 451 1 1 AFAP1 NA07037,NA19190 nsv820965 4 7887358 7888726 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420397 S 1 0 1 AFAP1 NA10851 nsv508996 4 7892034 7937140 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619370 S 4 1 0 AFAP1 NA10860 nsv878578 4 7892733 8020494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544710 S 6533 1 0 ABLIM2,AFAP1 MS16447 esv2491294 4 7916515 7916953 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203351 S 1 1 0 AFAP1 NA18507 esv8707 4 7916653 7916736 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31148 S 1 1 0 AFAP1 SJK nsv291213 4 7949392 7949450 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309791 M 24 AFAP1 esv2143898 4 7952779 7953197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4576673 S 1 0 1 AFAP1 NA18507 esv22994 4 7970790 7971720 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16599 S 451 1 0 AFAP1 NA19225 esv6490 4 7998529 7998790 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28931 S 1 0 0 "" SJK esv25285 4 8001757 8002477 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20550 S 451 1 0 "" NA12828 nsv525135 4 8006388 8009929 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701205 S 2026 1 0 "" nsv829851 4 8009598 8099960 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443376,nssv1443366,nssv1443369,nssv1443368,nssv1443367,nssv1443375,nssv1443374,nssv1443370,nssv1443371,nssv1443372 M 95 0 10 ABLIM2 nsv469779 4 8016153 8228546 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649800 M 265 0 0 Samples from several populations that are part of the HapMap project. ABLIM2 nsv878579 4 8020494 8062596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543429 S 6533 0 1 ABLIM2 MS16153 esv23700 4 8022153 8025832 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18370 S 451 0 1 ABLIM2 NA07037 nsv829852 4 8042806 8202167 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443378,nssv1443380,nssv1443379,nssv1443381,nssv1443377 M 95 1 4 ABLIM2 esv4240 4 8046643 8048071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26681 S 1 0 1 Single Asian sample YH ABLIM2 YH esv1000260 4 8046697 8047795 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571450 S 3 0 1 ABLIM2 HuRef esv1632857 4 8046709 8047808 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172806 S 2 0 1 ABLIM2 HuRef nsv878580 4 8063067 8096369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533743 S 6533 0 1 ABLIM2 MS11306 nsv470009 4 8066321 8136074 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546262,nssv546264,nssv546268,nssv546263,nssv546269,nssv546266,nssv546267 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABLIM2 HGDP00326,HGDP00546,HGDP00550,HGDP00661,HGDP00789,HGDP00825,HGDP00978 dgv5451n71 4 8072492 8167102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878585,nsv878581 M 6533 0 2 ABLIM2 MS10311,MS18276 dgv5452n71 4 8074384 8100613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878583,nsv878582 M 6533 0 2 ABLIM2 IS38388,MS13770 dgv5453n71 4 8074384 8140498 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878587,nsv878584,nsv878589 M 6533 0 3 ABLIM2 IS41634,MS11726,MS17208 nsv878586 4 8074384 8199059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543430 S 6533 0 1 ABLIM2 MS16153 nsv878588 4 8085672 8121693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585831 S 6533 0 1 ABLIM2 IS37646 nsv508997 4 8097115 8182088 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619371 S 4 1 0 ABLIM2 NA10860 nsv878590 4 8098873 8126034 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529793 S 6533 0 1 ABLIM2 MS10123 nsv878591 4 8114401 8257983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538591 S 6533 0 1 ABLIM2,SH3TC1 MS13770 dgv643n27 4 8136074 8170837 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461214,nsv461215 M 1557 0 2 ABLIM2 HGDP00774,NINDS_50 nsv878592 4 8156299 8214460 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516616 S 6533 1 0 ABLIM2 SP56878 nsv878593 4 8176688 8284241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529794 S 6533 0 1 ABLIM2,SH3TC1 MS10123 nsv290326 4 8184251 8184465 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308904 M 24 ABLIM2 nsv290664 4 8184430 8184642 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309242 M 24 ABLIM2 nsv461216 4 8205434 8327311 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537632 S 1557 0 1 ABLIM2,HTRA3,SH3TC1 NINDS_111 dgv5454n71 4 8205434 8345096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878594,nsv878597 M 6533 0 2 ABLIM2,HTRA3,SH3TC1 MS10311,MS18276 dgv5455n71 4 8205434 8499892 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878602,nsv878595,nsv878601 M 6533 0 3 ABLIM2,ACOX3,HTRA3,METTL19,SH3TC1 MS17208,SP50984,SP56395 nsv822469 4 8216249 8225015 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439620 S 31 0 1 "" NA18537 nsv441857 4 8216784 8224819 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470012 4 8222301 8284241 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546272,nssv546271,nssv546270 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SH3TC1 HGDP00302,HGDP00543,HGDP00825 dgv5456n71 4 8222301 8305684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878598,nsv878596 M 6533 0 2 SH3TC1 IS39233,MS10769 nsv829853 4 8222965 8371768 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443382,nssv1443385,nssv1443383 M 95 1 2 HTRA3,SH3TC1 nsv291097 4 8237404 8237456 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309675 M 24 "" esv1332957 4 8237549 8237599 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612740 S 2 0 1 "" HuRef nsv293278 4 8237550 8237599 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311856 M 24 "" dgv5457n71 4 8246605 8363058 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878600,nsv878599 M 6533 0 2 HTRA3,SH3TC1 MS13770,MS16153 nsv4220 4 8269751 8303405 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3232 S 9 1 0 SH3TC1 NA12878 nsv461218 4 8305684 8371026 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537634 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HTRA3 HGDP01023 esv29195 4 8322124 8322965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13119 S 451 0 1 HTRA3 NA12878 nsv878603 4 8340707 8363058 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581559 S 6533 1 0 HTRA3 IS35624 nsv4222 4 8342783 8371639 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4723 S 9 1 0 HTRA3 NA19129 esv2493897 4 8347129 8347292 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392351 S 1 1 0 HTRA3 NA18507 esv1430054 4 8347590 8347590 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110167 S 2 1 0 HTRA3 HuRef esv1923424 4 8353315 8353635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583005 S 1 0 1 HTRA3 NA18507 nsv470013 4 8366838 8427958 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546273 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOX3 HGDP00547 nsv878604 4 8366838 8669816 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581560 S 6533 1 0 ACOX3,CPZ,GPR78,METTL19 IS35624 nsv878605 4 8382957 8429859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534694 S 6533 0 1 ACOX3 MS11726 nsv4223 4 8398973 8426185 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7923 S 9 1 0 ACOX3 NA12156 dgv5458n71 4 8400638 8437620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878607,nsv878606,nsv878608 M 6533 0 3 ACOX3 IS32322,IS33504,IS37646 nsv526508 4 8408823 8422454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702818 S 2026 0 1 ACOX3 esv2591597 4 8409218 8410086 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275392 S 1 1 0 "" NA18507 esv2295360 4 8416960 8417349 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601569 S 1 0 1 "" NA18507 esv999935 4 8417098 8417153 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578927 S 3 0 1 "" HuRef nsv461220 4 8423844 8509294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537635 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOX3,METTL19 HGDP00058 nsv524994 4 8424732 8431757 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701025 S 2026 0 1 ACOX3 dgv5459n71 4 8424732 8467876 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878610,nsv878609 M 6533 0 2 ACOX3 MS16153,MS18276 esv1005399 4 8438181 8448883 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564751 S 3 0 1 ACOX3 HuRef nsv470014 4 8441546 8480717 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546274 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOX3 HGDP00058 esv2148081 4 8445787 8446255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531868 S 1 0 1 ACOX3 NA18507 esv1516082 4 8445932 8446092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143302 S 2 0 1 ACOX3 HuRef nsv829854 4 8453821 8557307 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443387,nssv1443386,nssv1443389,nssv1443388 M 95 3 1 ACOX3,METTL19 nsv4224 4 8554627 8597362 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4669 S 9 0 1 "" NA19129 nsv878611 4 8563789 8585183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589828 S 6533 0 1 "" IS38411 dgv1569e1 4 8573073 9228556 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20270,essv8771,essv21060,essv12402,essv821,essv17640,essv5301,essv12242,essv16975,essv10223,essv8323,essv19466,essv19784,essv15210,essv13469,essv23787,essv24433,essv15696,essv20077,essv22348,essv23406,essv11428 M 271 0 0 CPZ,DEFB131,GPR78,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,MIR548I2,USP17,USP17L5,USP17L6P NA06985,NA06991,NA07048,NA10835,NA10854,NA11840,NA12144,NA12707,NA12753,NA12763,NA18563,NA18857,NA18912,NA18973,NA19092,NA19094,NA19101,NA19103,NA19144,NA19152,NA19192,NA19238 nsv428437 4 8573073 9373271 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454388,nssv454389,nssv454399,nssv454377,nssv454378,nssv454391,nssv454394,nssv454379,nssv454401,nssv454382,nssv454397,nssv454383,nssv454380,nssv454396,nssv454390,nssv454392,nssv454381,nssv454375,nssv454395,nssv454384,nssv454374,nssv454404,nssv454402,nssv454386,nssv454400,nssv454403,nssv454393 M 62 27 0 CPZ,DEFB131,GPR78,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,MIR548I2,USP17,USP17L5,USP17L6P HGDP00449,HGDP00450,HGDP00460,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 dgv1570e1 4 8573073 9885565 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3045,esv634 M 271 0 0 CPZ,DEFB131,DRD5,GPR78,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,MIR3138,MIR548I2,SLC2A9,USP17,USP17L5,USP17L6P,WDR1 NA18981 nsv461221 4 8585183 8605794 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537636 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00776 nsv878612 4 8585183 8669816 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531123 S 6533 1 0 CPZ,GPR78 MS10330 esv259521 4 8604906 8605226 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393638,essv2393979,essv2394253 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv260041 4 8604910 8605239 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400218,essv2399087,essv2401157,essv2400876,essv2396777,essv2398672,essv2399178,essv2395653,essv2397801,essv2400930,essv2398542,essv2395515,essv2397855,essv2398937,essv2400176,essv2398451,essv2398218,essv2395369,essv2394879,essv2395897,essv2397502,essv2395465,essv2398181,essv2397162,essv2394590,essv2396985,essv2394861,essv2399520,essv2396439,essv2398053,essv2399659,essv2395935,essv2397052,essv2400451 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11931,NA11993,NA12249,NA12489,NA12776,NA18501,NA18505,NA18547,NA18562,NA18563,NA18577,NA18603,NA18608,NA18871,NA18909,NA18916,NA18942,NA18945,NA18947,NA18948,NA18949,NA18951,NA18965,NA18973,NA19114,NA19137,NA19138,NA19147,NA19210,NA19238,NA19239,NA19240 esv8297 4 8605013 8605065 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30738 S 1 1 0 "" SJK dgv5460n71 4 8605794 8676145 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878613,nsv878615 M 6533 0 2 CPZ,GPR78 IS39233,MS13095 dgv5461n71 4 8605794 8725771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878619,nsv878614,nsv878620,nsv878616 M 6533 0 4 CPZ,GPR78 MS10311,MS10769,MS16153,MS18276 dgv5462n71 4 8617658 8980214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878622,nsv878621,nsv878617 M 6533 0 3 CPZ,GPR78,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P IS32322,MS10123,MS17208 nsv878618 4 8630658 8692596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580826 S 6533 0 1 CPZ,GPR78 IS35484 nsv470015 4 8635779 8780538 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546277,nssv546275 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CPZ,GPR78 HGDP00298,HGDP00302 nsv4225 4 8641934 8720237 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3124,nssv3233,nssv10392,nssv7064,nssv10393,nssv367,nssv4726,nssv4724,nssv368 M 9 6 0 CPZ NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv33219 4 8649551 8652219 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96827,essv94322,essv97899,essv97303,essv92760,essv93494,essv99745,essv92662,essv99221 M 51 9 0 CPZ 21659,21808,21837,21879,21944,22128,22217,22233,22275 nsv829855 4 8655779 8780507 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443398,nssv1443409,nssv1443391,nssv1443390,nssv1443392,nssv1443405,nssv1443397,nssv1443394,nssv1443393,nssv1443396,nssv1443408,nssv1443404,nssv1443401,nssv1443400,nssv1443399,nssv1443402,nssv1443403 M 95 6 11 CPZ nsv521867 4 8658966 8692596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694639 S 2026 0 1 CPZ nsv518282 4 8662076 8671364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695713 S 2026 0 1 CPZ nsv4226 4 8667427 8707182 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9878,nssv4725 M 9 0 2 CPZ NA18507,NA19129 nsv10442 4 8672380 8692180 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12091,nssv12591,nssv11747,nssv28837,nssv13613,nssv12024,nssv12189,nssv11750,nssv12123,nssv12732,nssv11755,nssv29048,nssv13800,nssv12807,nssv12938,nssv11496,nssv12359,nssv11737,nssv12034,nssv29162,nssv11626,nssv12078,nssv11522,nssv11758 M 31 24 0 Samples from several populations that are part of the HapMap project. CPZ NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18552,NA18563,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv821439 4 8672875 8689972 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420398 S 1 0 1 "" NA10851 esv27145 4 8672950 8689859 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16853 S 451 36 0 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1005999 4 8673905 8689800 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586681 S 3 1 0 "" HuRef nsv515012 4 8674641 8677911 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628501 S 1414 0 0 "" nsv515013 4 8678326 8678544 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628503 S 1414 0 0 "" nsv461223 4 8698133 8734644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537637 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00802 dgv5464n71 4 8780538 9122563 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv878629,nsv878627,nsv878630 M 6533 28 12 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P IS30085,IS31554,IS34432,IS35025,IS35908,IS36071,IS36316,IS38143,IS38224,IS38582,IS38979,IS39353,IS40588,IS40612,IS40809,MS10702,MS10946,MS11753,MS12674,MS12685,MS12986,MS13500,MS15835,MS16228,MS17872,MS18886,MS19606,MS20039,MS20459,MS20857,MS22013,MS22797,MS24670,SP50086,SP54226,SP54802,SP54832,SP56830,SP57774,SP81181 nsv878632 4 8780538 9151857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590156 S 6533 0 1 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P IS38464 dgv5465n71 4 8780538 9160192 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878639,nsv878631,nsv878626,nsv878633,nsv878628 M 6533 19 0 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P IS31213,IS33852,IS34964,IS37985,IS40227,IS40511,IS41968,MS10575,MS11451,MS15216,MS24678,MS25219,MS25526,MS25589,MS25755,SP51165,SP52193,SP52464,SP54406 dgv5466n71 4 8780538 9297067 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878634,nsv878638,nsv878637,nsv878635,nsv878636 M 6533 7 0 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,MIR548I2,USP17,USP17L5,USP17L6P IS30295,IS30487,IS31703,IS34381,IS35538,IS38503,SP53449 esv26475 4 8782749 8783589 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18848 S 451 1 0 "" NA18517 nsv469637 4 8933741 9048989 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649563 M 265 0 8 Samples from several populations that are part of the HapMap project. LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P nsv471623 4 8933741 9203157 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549723,nssv650980,nssv549721,nssv549724,nssv549714,nssv549719,nssv650988,nssv650981,nssv650979,nssv650995,nssv549734,nssv549726,nssv549727,nssv650989,nssv650990,nssv549733,nssv650991,nssv650978,nssv650994,nssv650983,nssv650984,nssv650985,nssv549722,nssv549713,nssv650977,nssv549731,nssv549720,nssv650992,nssv549729,nssv549716,nssv549717,nssv549728,nssv549718,nssv549725,nssv549730,nssv650982,nssv650986,nssv549732,nssv650987,nssv650993,nssv549715 M 48 6 20 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,MIR548I2,USP17,USP17L5,USP17L6P JK1051,JK776,NA10469,NA10470,NA10472,NA10473,NA10494,NA10496,NA10967,NA10969,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15725,NA15729,NA15730,NA15733,NA17014,NA17015,NA17016,NA17017,NA17051 dgv1572e1 4 8933742 9053420 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14412,essv6753,essv1522,essv3792,essv6692,essv22083,essv4178,essv2807,essv5574,essv24930,essv5213,essv4563,essv9235,essv22417,essv6945,essv1360,essv3159,essv2441,essv23191,essv18154,essv23526,essv7295,essv5712,essv19080,essv10440,essv4696,essv22402,essv1039,essv24868,essv23858,essv1917,essv23600,essv2640 M 271 0 0 LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P NA06993,NA06994,NA07000,NA07022,NA07055,NA10861,NA11993,NA12006,NA12154,NA12156,NA12875,NA18507,NA18515,NA18524,NA18526,NA18529,NA18562,NA18582,NA18592,NA18593,NA18608,NA18611,NA18622,NA18943,NA18959,NA18967,NA18980,NA18987,NA18999,NA19005,NA19007,NA19012,NA19128 dgv1573e1 4 8933742 9123666 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3281,essv14694,essv5280,essv24787,essv1882,essv265,essv8639,essv13775,essv20652,essv8483,essv2575,essv19625,essv33,essv11834,essv24237,essv21257,essv13570,essv1752,essv23465,essv10765,essv6377,essv2526,essv19262,essv393,essv6894,essv12616,essv3857,essv12495,essv14505,essv15832,essv22172,essv10026,essv689,essv18599,essv16162,essv20776,essv17921,essv13167,essv7147,essv20596,essv4494,essv15053,essv9934,essv7806,essv13065,essv12311,essv4120,essv5805,essv7554,essv7335,essv6004,essv11256,essv6186,essv9053,essv16672,essv3460,essv1240,essv12538,essv22667,essv22930,essv8921,essv4906,essv13612,essv22444,essv18829,essv4270,essv16403,essv24690,essv8841,essv11749,essv11649,essv4771,essv14284,essv11017,essv10109,essv20909,essv11506,essv10947,essv4984,essv9371,essv16326,essv866,essv13869,essv23371,essv10680,essv23047,essv17312,essv15734,essv19936,essv22484,essv24597,essv8377,essv21677,essv17094,essv6570,essv12971,essv9126,essv9462,essv25010,essv7062,essv14100,essv10544,essv15291,essv14862,essv9775,essv15007,essv5445,essv18358,essv10839,essv17206,essv16788,essv3729,essv16871,essv22004,essv7710,essv7751,essv9657,essv12705,essv2306,essv18735,essv1213,essv21202,essv1479,essv11839,essv5096,essv3409,essv22924,essv17256,essv3558,essv22781,essv16199,essv24124,essv2071,essv14180,essv18967,essv461,essv22603,essv2834,essv15587,essv6997,essv14467,essv16053,essv21454,essv17747,essv2230,essv527,essv1119,essv11958,essv21781,essv2242,essv6335,essv15423,essv20197,essv120,essv3077,essv15541,essv3990,essv10278,essv14628 M 271 0 0 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P NA07019,NA07034,NA07056,NA07348,NA07357,NA10831,NA10838,NA10839,NA10847,NA10855,NA10856,NA10857,NA10860,NA11829,NA11830,NA11832,NA11882,NA11992,NA11994,NA11995,NA12003,NA12005,NA12146,NA12155,NA12234,NA12239,NA12248,NA12717,NA12750,NA12751,NA12752,NA12760,NA12761,NA12801,NA12812,NA12813,NA12874,NA12892,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18508,NA18516,NA18521,NA18522,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18566,NA18570,NA18571,NA18572,NA18577,NA18603,NA18605,NA18609,NA18612,NA18620,NA18621,NA18624,NA18632,NA18633,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18913,NA18914,NA18940,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18960,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18975,NA18976,NA18978,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA19000,NA19003,NA19093,NA19098,NA19099,NA19100,NA19102,NA19127,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19145,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19207,NA19208,NA19209,NA19221,NA19223,NA19239,NA19240 dgv1574e1 4 8933742 9317896 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3775,essv20711,essv11186,essv6455,essv23898,essv9613 M 271 0 0 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,MIR548I2,USP17,USP17L5,USP17L6P NA12752,NA12814,NA18637,NA18961,NA19141,NA19211 esv1010945 4 8933780 8979982 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586310 S 3 1 0 LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P HuRef esv22777 4 8933780 9105220 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13707,esv16933,esv18589,esv16669,esv15347,esv16671 M 451 36 10 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv4227 4 8935285 9006031 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10394,nssv2448 M 9 0 2 LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P NA18555,NA18956 nsv515014 4 8935896 8937180 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628504 S 1414 0 0 LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5 nsv515015 4 8937241 8937497 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628505 S 1414 0 0 LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5 nsv515016 4 8937520 8940456 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628506 S 1414 0 0 LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5 nsv878640 4 8944951 9079320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509131 S 6533 0 1 DEFB131,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P SP54753 dgv5467n71 4 8944951 9097760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878642,nsv878641 M 6533 2 0 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P SP52543,SP58373 nsv878643 4 8944951 9112447 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506266,nssv1508755,nssv1509428,nssv1506493,nssv1502297 M 6533 3 2 DEFB131,LOC650293,LOC728369,LOC728373,LOC728379,LOC728393,LOC728400,LOC728405,USP17,USP17L5,USP17L6P SP50783,SP54127,SP54362,SP54681,SP54790 nsv515017 4 8970069 8970408 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628507 S 1414 0 0 USP17 nsv829856 4 8979406 9088247 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443421,nssv1443416,nssv1443415,nssv1443417,nssv1443414,nssv1443411,nssv1443422,nssv1443413,nssv1443410,nssv1443420,nssv1443412,nssv1443419 M 95 4 8 DEFB131,USP17L6P nsv818209 4 8980214 9013910 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418262,nssv1418142 M 112 2 0 "" NA19094,NA19143 dgv49n64 4 8980214 9061021 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818210,nsv818214 M 112 5 0 DEFB131 NA18609,NA19141,NA19144,NA19145,NA19239 nsv819708 4 8980214 9095677 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418868 S 2 1 0 DEFB131,LOC650293 AK1 nsv470016 4 8980214 9097759 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546278 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFB131,LOC650293 HGDP00951 dgv5468n71 4 8980214 9097760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878644,nsv878652,nsv878647,nsv878646,nsv878645,nsv878648,nsv878653,nsv878656 M 6533 21 0 DEFB131,LOC650293 IS33027,IS40105,MS10351,MS12017,MS14755,MS15885,MS17278,MS17794,MS20239,MS25014,SP50608,SP51300,SP52270,SP52648,SP54148,SP55003,SP56089,SP56289,SP56899,SP80917,SP81182 dgv644n27 4 8980214 9122563 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461245,nsv461229,nsv461234,nsv461238,nsv461230,nsv461225,nsv461246,nsv461231,nsv461243,nsv461236,nsv461242,nsv461240,nsv461232,nsv461226,nsv461224,nsv461244,nsv461237,nsv461241,nsv461227,nsv461233,nsv461251,nsv461249,nsv461247,nsv461248,nsv461235 M 1557 25 0 DEFB131,LOC650293 1780854296_A,1780862404_A,HGDP00029,HGDP00106,HGDP00139,HGDP00455,HGDP00457,HGDP00464,HGDP00470,HGDP00471,HGDP00472,HGDP00479,HGDP00779,HGDP00907,HGDP00910,HGDP01032,HGDP01034,HGDP01035,HGDP01199,HGDP01200,HGDP01231,HGDP01406,HGDP01411,HGDP01414,HGDP01416 nsv818212 4 8980214 9122563 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418261 S 112 1 0 DEFB131,LOC650293 NA19093 dgv645n27 4 8980214 9208888 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461258,nsv461254,nsv461252,nsv461257,nsv461255,nsv461256,nsv461253 M 1557 7 0 DEFB131,LOC650293,MIR548I2 1780854123_A,1780854382_A,HGDP00456,HGDP00906,HGDP01205,HGDP01412,HGDP01417 nsv818213 4 8980214 9329079 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417617 S 112 1 0 DEFB131,LOC650293,MIR548I2 NA18978 nsv442890 4 8981399 9024929 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv12007 4 8981401 9016339 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19141 dgv1575e1 4 8981401 9130709 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12082,essv11299,essv12102,essv13950 M 271 0 0 DEFB131,LOC650293 NA18863,NA19099,NA19160,NA19173 dgv1576e1 4 8981401 9205016 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12920,essv1659,essv8556 M 271 0 0 DEFB131,LOC650293,MIR548I2 NA18503,NA18961,NA19094 dgv1577e1 4 8981401 9420903 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2151,essv5423,essv19519 M 271 0 0 DEFB131,DRD5,LOC650293,MIR548I2 NA12864,NA18542,NA18978 dgv5469n71 4 8984611 9151857 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878650,nsv878654,nsv878649 M 6533 4 0 DEFB131,LOC650293 IS34092,IS40033,IS40678,MS13330 nsv10444 4 8984628 9015913 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13673,nssv12822 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18502,NA18972 nsv878651 4 8985104 9052992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500160,nssv1515964 M 6533 2 0 "" SP50128,SP56330 essv7894 4 8989162 9057838 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DEFB131 NA19239 nsv878655 4 8993846 9218604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525385 S 6533 1 0 DEFB131,LOC650293,MIR548I2 SP56539 nsv469529 4 9010035 9203157 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649638 M 265 0 42 Samples from several populations that are part of the HapMap project. DEFB131,LOC650293,MIR548I2 nsv878657 4 9016193 9122563 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551621,nssv1558216,nssv1538216 M 6533 1 2 DEFB131,LOC650293 MS13527,MS18956,MS23163 nsv878660 4 9016339 9112447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518768 S 6533 0 1 DEFB131,LOC650293 SP58007 dgv5470n71 4 9016339 9122563 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878658,nsv878659,nsv878661 M 6533 3 0 DEFB131,LOC650293 MS18722,SP50615,SP51339 nsv469611 4 9016461 9166776 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649535 M 265 0 0 Samples from several populations that are part of the HapMap project. DEFB131,LOC650293 nsv442891 4 9024930 9066074 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DEFB131 nsv878662 4 9040539 9097760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516806 S 6533 1 0 DEFB131,LOC650293 SP56947 nsv4228 4 9047685 9108916 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7065,nssv10395,nssv3234,nssv2449 M 9 0 4 DEFB131,LOC650293 NA12156,NA12878,NA18555,NA18956 nsv10445 4 9051704 9070407 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12419 S 31 1 0 Samples from several populations that are part of the HapMap project. DEFB131 NA19173 nsv508273 4 9051960 9245478 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622479 S 4 0 1 DEFB131,LOC650293,MIR548I2 NA18994 esv1163601 4 9060165 9060165 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866635 S 2 1 0 DEFB131 HuRef dgv5471n71 4 9061021 9188118 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878664,nsv878663 M 6533 2 0 DEFB131,LOC650293,MIR548I2 IS38161,MS13154 nsv525830 4 9061021 9208888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702019 S 2026 0 1 DEFB131,LOC650293,MIR548I2 nsv821287 4 9062300 9088639 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420399 S 1 0 1 "" NA10851 esv988170 4 9065753 9090688 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564690 S 3 0 1 "" HuRef nsv499030 4 9066271 9090682 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585891 S 9 0 1 "" nsv442892 4 9070328 9088443 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv878665 4 9079320 9260511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566189 S 6533 1 0 LOC650293,MIR548I2 IS30597 nsv10446 4 9079830 9094005 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12651 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv511257 4 9081590 9086201 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624755 S 1 0 1 "" 1 esv1000071 4 9083552 9086059 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586576 S 3 0 1 "" HuRef esv2292593 4 9084742 9085236 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928715 S 1 0 1 "" NA18507 nsv511261 4 9086592 9094398 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624799 S 1 0 1 "" 1 nsv433363 4 9089333 9195862 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463244 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC650293,MIR548I2 NA19240 nsv878666 4 9095677 9235402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585396 S 6533 0 1 MIR548I2 IS37443 esv9425 4 9101905 9104277 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31866 S 1 0 1 "" SJK nsv292012 4 9104227 9104306 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310590 M 24 "" esv28874 4 9117494 9354801 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10795,esv20373,esv17661 M 451 1 5 MIR548I2 NA18502,NA18508,NA18858,NA18861,NA19129,NA19190 essv18917 4 9130709 9399810 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DRD5,MIR548I2 NA12717 nsv10447 4 9140467 9153320 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12852,nssv13703 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18502,NA18972 nsv878667 4 9152771 9512219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547770 S 6533 1 0 DRD5,MIR548I2,SLC2A9 MS17537 nsv520290 4 9160192 9235507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697329 S 2026 0 1 MIR548I2 dgv5472n71 4 9160192 9260511 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878670,nsv878668 M 6533 2 0 MIR548I2 IS39354,SP81354 nsv878669 4 9160192 9403822 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529742 S 6533 1 0 DRD5,MIR548I2 MS10120 esv2042021 4 9181983 9182431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585905 S 1 0 1 "" NA18507 esv1297262 4 9182164 9182272 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190636 S 2 0 1 "" HuRef esv1364533 4 9186076 9186547 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598456 S 2 0 1 "" HuRef esv1409581 4 9212342 9212342 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106073 S 2 1 0 "" HuRef essv3654 4 9218213 9317896 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18991 nsv469511 4 9219085 9363127 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649637 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv4229 4 9222397 9268993 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10396 S 9 0 1 "" NA18956 nsv10448 4 9228268 9242305 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12944,nssv12084,nssv11686,nssv11625,nssv13003,nssv12168,nssv12681,nssv11845,nssv11837,nssv12867 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18860,NA18975,NA18980,NA19132 dgv860n67 4 9235143 9239606 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822472,nsv822471,nsv822470,nsv822473 M 31 0 17 "" AK10,AK12,AK16,AK18,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18947,NA18951,NA18968,NA18973,NA18999 nsv509879 4 9266996 9272996 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622047 S 4 0 1 "" NA10860 esv1086364 4 9298008 9298079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595679 S 2 0 1 "" HuRef esv2291639 4 9369427 9369896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987999 S 1 0 1 "" NA18507 esv1382834 4 9369645 9369645 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060260 S 2 1 0 "" HuRef dgv5473n71 4 9375986 9524839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878671,nsv878675,nsv878680,nsv878674 M 6533 4 0 DRD5,SLC2A9 MS10702,MS21833,MS22741,MS25475 esv28859 4 9385670 9392129 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16089 S 451 1 0 "" NA19257 nsv482087 4 9392356 9394731 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558448 S 1 1 0 DRD5 KB1 dgv5474n71 4 9395830 9617403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878676,nsv878672,nsv878677 M 6533 4 0 SLC2A9 IS36992,MS15312,MS24213,MS24690 nsv878673 4 9403822 9443205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553614 S 6533 1 0 SLC2A9 MS20204 dgv5475n71 4 9411951 9468995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878678,nsv878679 M 6533 4 0 SLC2A9 MS12986,MS13002,MS15589,MS25219 dgv5476n71 4 9411951 10027176 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878681,nsv878691 M 6533 2 0 MIR3138,SLC2A9,WDR1 MS16851,SP55822 nsv878682 4 9435968 9467054 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553960 S 6533 1 0 SLC2A9 MS20459 nsv10449 4 9437887 9441868 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12711 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC2A9 NA18860 nsv461259 4 9443205 9472796 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537673 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC2A9 HGDP00832 nsv878683 4 9453719 9520941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541978 S 6533 1 0 SLC2A9 MS15576 nsv433443 4 9471134 9481573 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463324 S 9 0 1 Samples from several populations that are part of the HapMap project. SLC2A9 NA18956 esv24465 4 9472788 9475066 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15672 S 451 0 1 SLC2A9 NA18909 nsv519519 4 9472796 9474524 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694171,nssv687874,nssv656596,nssv692351,nssv683059 M 2026 0 5 SLC2A9 nsv524654 4 9472796 9481573 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700621 S 2026 0 1 SLC2A9 nsv878684 4 9472796 9607538 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541988 S 6533 1 0 SLC2A9 MS15589 esv25020 4 9485468 9486234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17050 S 451 0 17 SLC2A9 NA07037,NA11894,NA11993,NA12004,NA12006,NA12287,NA12489,NA12828,NA18505,NA18517,NA18523,NA18861,NA18909,NA19108,NA19147,NA19225,NA19240 nsv878685 4 9498092 9524839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536889 S 6533 1 0 SLC2A9 MS13002 dgv5477n71 4 9502501 9647210 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878686,nsv878687,nsv878688 M 6533 3 0 SLC2A9 MS17537,MS20204,MS20459 esv2752052 4 9520970 9922209 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984826,essv6984827,essv6984828,essv6984829,essv6988855 M 771 1 0 MIR3138,SLC2A9,WDR1 SPC_181 nsv527211 4 9521199 9553748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703611 S 2026 0 1 SLC2A9 nsv525177 4 9540060 9559803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701253 S 2026 0 1 SLC2A9 dgv5478n71 4 9552283 9617403 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878689,nsv878690 M 6533 2 0 SLC2A9 MS22741,MS25475 esv2162646 4 9561206 9561809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888682 S 1 0 1 SLC2A9 NA18507 esv2757 4 9561371 9561734 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25198 S 1 0 1 Single Asian sample YH SLC2A9 YH esv2470501 4 9561398 9561647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226771 S 1 0 1 SLC2A9 NA18507 nsv290026 4 9561408 9561657 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308604 M 24 SLC2A9 esv2217569 4 9565751 9566432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855779 S 1 0 1 SLC2A9 NA18507 dgv135n6 4 9565920 9566250 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291745,nsv291144 M 24 SLC2A9 nsv527147 4 9590987 9593573 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703536 S 2026 1 0 SLC2A9 esv2425297 4 9591529 9592475 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359390 S 1 1 0 SLC2A9 NA18507 nsv829857 4 9591612 9764933 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443423 S 95 1 0 MIR3138,SLC2A9,WDR1 nsv469621 4 9596768 9751385 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649546 M 265 0 10 Samples from several populations that are part of the HapMap project. MIR3138,SLC2A9,WDR1 nsv878692 4 9651258 9708431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502058 S 6533 1 0 MIR3138,WDR1 SP51056 essv3661 4 9660859 9673102 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18991 nsv523268 4 9665180 9671424 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699002 S 2026 1 0 "" dgv1578e1 4 9667324 9882877 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20404,essv18719,essv325,essv6362,essv14332,essv19462,essv18246,essv16271,essv14740,essv6728,essv421,essv2839,essv4259 M 271 0 0 MIR3138,WDR1 NA10830,NA10846,NA11840,NA12874,NA18603,NA18608,NA18609,NA18952,NA18953,NA18971,NA19159,NA19161,NA19194 nsv428438 4 9667324 9882877 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454407,nssv454408,nssv454411,nssv454406,nssv454412 M 62 5 0 MIR3138,WDR1 HGDP00450,HGDP00476,HGDP01089,HGDP01093,NA18498 nsv525589 4 9689560 9708912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701728 S 2026 0 1 WDR1 nsv524687 4 9689560 9768201 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700659 S 2026 1 0 WDR1 esv989430 4 9701589 9709744 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565524 S 3 0 1 WDR1 HuRef esv24360 4 9708917 9843664 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10510,esv16807,esv11871,esv10713,esv18529,esv20265,esv10897 M 451 28 3 WDR1 NA07037,NA11993,NA11995,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv10451 4 9727802 9729330 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11816 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 esv2752053 4 9733917 9879398 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981685,essv6981686,essv6981687,essv6981688,essv6989256,essv6988000 M 771 0 1 "" BEC_319 nsv436933 4 9734353 9741030 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466814 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10830 essv1808 4 9735287 9748289 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18971 nsv437909 4 9736076 9737244 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468098,nssv468096 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10830,NA12154 esv2031182 4 9742145 9742540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738742 S 1 0 1 "" NA18507 esv1000327 4 9744702 9801643 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586269 S 3 1 0 "" HuRef nsv10452 4 9745113 9746676 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29026,nssv13860,nssv11840,nssv11846,nssv12897,nssv13033,nssv11556,nssv11848,nssv11875,nssv12998,nssv12144,nssv11692,nssv12183,nssv11655,nssv11827,nssv12974,nssv12181,nssv12198,nssv13733,nssv12124,nssv12741,nssv11867,nssv12882,nssv12249,nssv11716,nssv11552,nssv29222,nssv12479 M 31 27 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv5177 4 9745187 9745898 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27618 S 1 0 1 Single Asian sample YH "" YH nsv291890 4 9745206 9745681 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310468 M 24 "" esv1002143 4 9745207 9745512 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579238 S 3 0 1 "" HuRef esv992680 4 9745207 9745716 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581766 S 3 0 1 "" HuRef nsv820469 4 9745207 9746197 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420400 S 1 0 1 "" NA10851 esv1534412 4 9745513 9745819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751301 S 2 0 1 "" HuRef esv33115 4 9751054 9756780 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101108,essv93807,essv96797,essv96992,essv94533,essv92781,essv97085,essv97655,essv100161 M 51 9 0 "" 21618,21634,21659,21817,21932,21944,22075,22278,22286 esv2401127 4 9756137 9756568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995719 S 1 0 1 "" NA18507 nsv292409 4 9756286 9756446 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310987 M 24 "" nsv519610 4 9762331 9768201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657056,nssv679384,nssv672357 M 2026 0 3 "" nsv508274 4 9788389 9848501 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618734,nssv619933 M 4 0 2 "" NA10860,NA15510 dgv120e180 4 9801128 9814236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006661,esv991640 M 3 0 1 "" HuRef dgv121e180 4 9801705 9814213 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996489,esv1010451,esv989659 M 3 0 1 "" HuRef nsv526558 4 9803602 9813691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702873 S 2026 0 1 "" nsv253 4 9807721 9847657 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv253 S 1 0 1 "" NA15510 nsv4230 4 9807721 9861961 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv369,nssv2450,nssv10397,nssv11081,nssv3235,nssv4727,nssv7066 M 9 0 7 "" NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 esv1010480 4 9814233 9843664 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586682 S 3 1 0 "" HuRef nsv10453 4 9819715 9845236 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12213,nssv11905,nssv11746,nssv13028,nssv13004,nssv12912,nssv11897,nssv29108,nssv13793,nssv11876,nssv11685,nssv11870,nssv13890,nssv11722,nssv12509,nssv12211,nssv11582,nssv11586,nssv12801,nssv12279,nssv28897,nssv12228,nssv29056,nssv11878,nssv12927 M 31 25 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv2422131 4 9819751 9844366 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150077,essv5124405,essv5147794,essv5149828,essv5093073,essv5028983,essv5159164,essv5030056,essv5099296,essv5026195,essv5157186,essv5108989,essv5160250,essv5157191,essv5141758,essv5127579,essv5075695,essv5151232,essv5008558,essv5114839,essv5027725,essv5152559,essv5077833,essv5055953,essv5062951,essv5037858,essv5040895,essv5125654,essv5019371,essv5028038,essv5031696,essv5106456,essv5151781,essv5152838,essv5037624,essv5147229,essv5138672,essv5076382,essv5041629,essv5103930,essv5029511,essv5020972,essv5108564,essv5084129,essv5026513,essv5104503,essv5108911,essv5028294,essv5119243,essv5070572,essv5139171,essv5021672,essv5052214,essv5072779,essv5019608,essv5128103,essv5039348,essv5135832,essv5080697,essv5106322,essv5055361,essv5148613,essv5045337,essv5101739,essv5117396,essv5016162,essv5112408,essv5062773,essv5075356,essv5107303,essv5029555,essv5136558,essv5009374,essv5122068,essv5118920,essv5126049,essv5149013,essv5107512,essv5039659,essv5003499,essv5038762,essv5157084,essv5064185,essv5032369,essv5136704,essv5061187,essv5084964,essv5151999,essv5004310,essv5158013,essv5138555,essv5124796,essv5043934,essv5004147,essv5101659,essv5006521,essv5141184,essv5113465,essv5033987,essv5016077,essv5131926,essv5088742,essv5032327,essv5072324,essv5029056,essv5138282,essv5144236,essv5152019,essv5098888,essv5160749,essv5097880,essv5117007,essv5092880,essv5133986,essv5098006,essv5029465,essv5140460,essv5034383,essv5053619,essv5056240,essv5067041,essv5078449,essv5056632,essv5016583,essv5078539,essv5049657,essv5140818,essv5041048,essv5001930,essv5071622,essv5073855,essv5134324,essv5128854,essv5123362,essv5076243,essv5015499,essv5095757,essv5084559,essv5074149,essv5034168,essv5035166,essv5040605,essv5006527,essv5052694,essv5112509,essv5005180,essv5158827,essv5128368,essv5007555,essv5071805,essv5004796,essv5035700,essv5054693,essv5153762,essv5153028,essv5145934,essv5043735,essv5079651,essv5081987,essv5047122,essv5018148,essv5144432,essv5064036,essv5140542,essv5111311,essv5093907,essv5149106,essv5036961,essv5021289,essv5146131,essv5059046,essv5143602,essv5080869,essv5155904,essv5045365,essv5088731,essv5007691,essv5122078,essv5097057,essv5127148,essv5100418,essv5022903,essv5049369,essv5035997,essv5020897,essv5018459,essv5140853,essv5135505,essv5020186,essv5121961,essv5009991,essv5034881,essv5123415,essv5137004,essv5045098,essv5004452,essv5003140,essv5038581,essv5037515,essv5016155,essv5014315,essv5043815,essv5082142,essv5066796,essv5147429,essv5128675,essv5064019,essv5043530,essv5122509,essv5121951,essv5057493,essv5003855,essv5009932,essv5106369,essv5046651,essv5011537,essv5019443,essv5075044,essv5130523,essv5015494,essv5131253,essv5005324,essv5108490,essv5079036,essv5071007,essv5116903,essv5002682,essv5071090,essv5141109,essv5058009,essv5079716,essv5120454,essv5093795,essv5141674,essv5134517,essv5135206,essv5029706,essv5006418,essv5109416,essv5131186,essv5064574,essv5066071,essv5124360,essv5060953,essv5082698,essv5122236,essv5150528,essv5049394,essv5015956,essv5046255,essv5016059,essv5071127,essv5065114,essv5121396,essv5004394,essv5152428,essv5074091,essv5140029,essv5021407,essv5157541,essv5109950,essv5138625,essv5035603,essv5017756,essv5138785,essv5037175,essv5103559,essv5093586,essv5149377,essv5070745,essv5132723,essv5018625,essv5138125,essv5071195,essv5057314,essv5004701,essv5120133,essv5122077,essv5120919,essv5157494,essv5028501,essv5118482,essv5018370,essv5106022,essv5051106,essv5083835,essv5139484,essv5138319,essv5139411,essv5020458,essv5109635,essv5099065,essv5134295,essv5124467,essv5159831,essv5141257,essv5059579,essv5031917,essv5155110,essv5014217,essv5103039,essv5076722,essv5071985,essv5010480,essv5112378,essv5057616,essv5105125,essv5138171,essv5090797,essv5112498,essv5112008,essv5013638,essv5015743,essv5011245,essv5087712,essv5060461,essv5108715,essv5086830,essv5015415,essv5147628,essv5007060,essv5113092,essv5031228,essv5112123,essv5093550,essv5059283,essv5132301,essv5055793,essv5060779,essv5071525,essv5143499,essv5129861,essv5009036,essv5095642,essv5093575,essv5082680,essv5151047,essv5108238,essv5079225,essv5075885,essv5134399,essv5157344,essv5037170,essv5133736,essv5140834,essv5078565,essv5122921,essv5125003,essv5022615,essv5093057,essv5076694,essv5042666,essv5063316,essv5047194,essv5123494,essv5146744,essv5027613,essv5111336,essv5109792,essv5035375,essv5155748,essv5116219,essv5120862,essv5047496,essv5082693,essv5025165,essv5130042,essv5130560,essv5137116,essv5118270,essv5069871,essv5046437,essv5159872,essv5021023,essv5035719,essv5013934,essv5056259,essv5094237,essv5059643,essv5077943,essv5089893,essv5007005,essv5013724,essv5111058,essv5141034,essv5025643,essv5028414,essv5092129,essv5011772,essv5123736,essv5038046,essv5159086,essv5107674,essv5028431,essv5141177,essv5149001,essv5036940,essv5056425,essv5134379,essv5161157,essv5105012,essv5052576,essv5077643,essv5055317,essv5056564,essv5025883,essv5061653,essv5069666,essv5158075,essv5115373,essv5135182,essv5152351,essv5114752,essv5112359,essv5154106,essv5051781,essv5047754,essv5160919,essv5054456,essv5119088,essv5066768,essv5131854,essv5092798,essv5016495,essv5009284,essv5060106,essv5010831,essv5047054,essv5120265,essv5067075,essv5051350,essv5130640,essv5074802,essv5031932,essv5100989,essv5109113,essv5071368,essv5002796,essv5067493,essv5055350,essv5117876,essv5019292,essv5147333,essv5032459,essv5087090,essv5143124,essv5010423,essv5145671,essv5142351,essv5118065,essv5148541,essv5072720,essv5033674,essv5044741,essv5143174,essv5099569,essv5083756,essv5085482,essv5019862,essv5059903,essv5063047,essv5110763,essv5004350,essv5032155,essv5144101,essv5059914,essv5034635,essv5071147,essv5149018,essv5080875,essv5152756,essv5143418,essv5026984,essv5030358,essv5025875,essv5122778,essv5135520,essv5048228,essv5150476,essv5033051,essv5031470,essv5116952,essv5113715,essv5110380,essv5093337,essv5030048,essv5020687,essv5066909,essv5020747,essv5060808,essv5110967,essv5069602,essv5138887,essv5050498,essv5084875,essv5119945,essv5086976,essv5084785,essv5035185,essv5136365,essv5101745,essv5070090,essv5048260,essv5017309,essv5121848,essv5034590,essv5047864,essv5122437,essv5127104,essv5091155,essv5050732,essv5030723,essv5060815,essv5074644,essv5004163,essv5148760,essv5006089,essv5116893,essv5069108,essv5021534,essv5096959,essv5035539,essv5008610,essv5008786,essv5041363,essv5101215,essv5014199,essv5130218,essv5074119,essv5033041,essv5048603,essv5093227,essv5095778,essv5106815,essv5010653,essv5022570,essv5026209,essv5110116,essv5094233,essv5053729,essv5117123,essv5075475,essv5108857,essv5016942,essv5137250,essv5032021,essv5100118,essv5160202,essv5017676,essv5031029,essv5043789,essv5013329,essv5116389,essv5126869,essv5156981,essv5035634,essv5061568,essv5091862,essv5075855,essv5079855,essv5084326,essv5083244,essv5081962,essv5120842,essv5105555,essv5093931,essv5112776,essv5126450,essv5080245,essv5144082,essv5069831,essv5008070,essv5137450,essv5098589,essv5152007,essv5121446,essv5117661,essv5147540,essv5048402,essv5084308,essv5016574,essv5029601,essv5085660,essv5098729,essv5074874,essv5100270,essv5156296,essv5038597,essv5071672,essv5061581,essv5090771,essv5004360,essv5141234,essv5007155,essv5117186,essv5095260,essv5055573,essv5160906,essv5157802,essv5158360,essv5130556,essv5077714,essv5159796,essv5072669,essv5155560,essv5126008,essv5128327,essv5102480,essv5158040,essv5094824,essv5024758,essv5059600,essv5052459,essv5049176,essv5112208,essv5039507,essv5029529,essv5028041,essv5088874,essv5012999,essv5156034,essv5013451,essv5145018,essv5110773,essv5102639,essv5069270,essv5022856,essv5139129,essv5141227,essv5030385,essv5056317,essv5134602,essv5133528,essv5091358,essv5114483,essv5125296,essv5144652,essv5022607,essv5135992,essv5113605,essv5041277,essv5123809,essv5051110,essv5044639,essv5152110,essv5040678,essv5060082,essv5123461,essv5099597,essv5031164,essv5086849,essv5022385,essv5068496,essv5093051,essv5123956,essv5008324,essv5134278,essv5148276,essv5008241,essv5141102,essv5064720,essv5115435,essv5070169,essv5045429,essv5087565,essv5015788,essv5118217,essv5059518,essv5125277,essv5024806,essv5138916,essv5143620,essv5077907,essv5068407,essv5041660,essv5042915,essv5153770,essv5094333,essv5114032,essv5011207,essv5149870,essv5008460,essv5085911,essv5080806,essv5146933,essv5007346,essv5105748,essv5089095,essv5028438,essv5098966,essv5050035,essv5152435,essv5019353,essv5111990,essv5002480,essv5082738,essv5115749,essv5137055,essv5127230,essv5044682,essv5141484,essv5066982,essv5101804,essv5103165,essv5073631,essv5081046,essv5108499,essv5067604,essv5042104,essv5062802,essv5021454,essv5065349,essv5026361,essv5152614,essv5095727,essv5088961,essv5099485,essv5044374,essv5024978,essv5072693,essv5155204,essv5030511,essv5004784,essv5077112,essv5041678,essv5012609,essv5041209,essv5057566,essv5047109,essv5021477,essv5109806,essv5084281,essv5157357,essv5089770,essv5130482,essv5035653,essv5143276,essv5070088,essv5083879,essv5060720,essv5011373,essv5081311,essv5013526,essv5146486,essv5089483,essv5094593,essv5012449,essv5100090,essv5062067,essv5053434,essv5151006,essv5033942,essv5043643,essv5102513,essv5062194,essv5127341,essv5135511,essv5140774,essv5045315,essv5007281,essv5024871,essv5037207,essv5035563,essv5033876,essv5050596,essv5002047,essv5111451,essv5155350,essv5033462,essv5138798,essv5075878,essv5079240,essv5112178,essv5052853,essv5033764,essv5018186,essv5028628,essv5026564,essv5087222,essv5132385,essv5018823,essv5097300,essv5159626,essv5122884,essv5063890,essv5159751,essv5135083,essv5156942,essv5008073,essv5152623,essv5013517,essv5063106,essv5141071,essv5021457,essv5156857,essv5077119,essv5058618,essv5094059,essv5103071,essv5049511,essv5131728,essv5020698,essv5134918,essv5136122,essv5133495,essv5152037,essv5142268,essv5075218,essv5138028,essv5130914,essv5011936,essv5020215,essv5046135,essv5062283,essv5122518,essv5146233,essv5148544,essv5082736,essv5119521,essv5108002,essv5152793,essv5109498,essv5081999,essv5014758,essv5135342,essv5029391,essv5009268,essv5124706,essv5137944,essv5129892,essv5067261,essv5015691,essv5053233,essv5153245,essv5139395,essv5100374,essv5090696,essv5049818,essv5008560,essv5029308,essv5025205,essv5028008,essv5046988,essv5087990,essv5022145,essv5107786,essv5005218,essv5070172,essv5099858,essv5095306,essv5013489,essv5103568,essv5042145,essv5122328,essv5081508,essv5095915,essv5107787,essv5140037,essv5027103,essv5007800,essv5109408,essv5033457,essv5012192,essv5026266,essv5006294,essv5093682,essv5099057,essv5157091,essv5023256,essv5090995,essv5057846,essv5155713,essv5132253,essv5160654,essv5127281,essv5116240,essv5152139,essv5130386,essv5106814,essv5084335,essv5050932,essv5070498,essv5004268,essv5084742,essv5097113,essv5052659,essv5009613,essv5088980,essv5140306,essv5008138,essv5045424,essv5032911,essv5030045,essv5016462,essv5017289,essv5057812,essv5043524,essv5105252,essv5025012,essv5011075,essv5117891,essv5098082,essv5073686,essv5116900,essv5064324,essv5026909,essv5061179,essv5135951,essv5011890,essv5033786,essv5099365,essv5022146,essv5149677,essv5126206,essv5013794,essv5086880,essv5005875,essv5146061,essv5117234,essv5115645,essv5130970,essv5064736,essv5107716,essv5002986,essv5143502,essv5028692,essv5159830,essv5088360,essv5010296,essv5117227,essv5076522,essv5037202,essv5053124,essv5034710,essv5076542,essv5116602,essv5155918,essv5086196,essv5059759,essv5122647,essv5042823,essv5157657,essv5063950,essv5098931,essv5126659,essv5134710,essv5029436,essv5146606,essv5120554,essv5106527,essv5006569,essv5021850,essv5152294,essv5038124,essv5079363,essv5012094,essv5002083,essv5067040,essv5105023,essv5019816,essv5072566,essv5146319,essv5128773,essv5152299,essv5148964,essv5108230,essv5026829,essv5051463,essv5057583,essv5082881,essv5110584,essv5051759,essv5002210 M 1184 0 973 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07357,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10847,NA10850,NA10852,NA10853,NA10854,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11839,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12286,NA12287,NA12335,NA12336,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12873,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17965,NA17966,NA17969,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17982,NA17986,NA17987,NA17988,NA17989,NA17990,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18105,NA18106,NA18107,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18139,NA18140,NA18141,NA18144,NA18146,NA18147,NA18149,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18166,NA18486,NA18488,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18509,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18594,NA18596,NA18597,NA18599,NA18602,NA18605,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18704,NA18740,NA18747,NA18748,NA18749,NA18757,NA18852,NA18854,NA18855,NA18857,NA18858,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18871,NA18872,NA18873,NA18875,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18966,NA18967,NA18968,NA18969,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19028,NA19036,NA19041,NA19046,NA19054,NA19056,NA19057,NA19058,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19084,NA19085,NA19086,NA19087,NA19088,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19150,NA19151,NA19152,NA19154,NA19160,NA19171,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19197,NA19198,NA19199,NA19200,NA19203,NA19204,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19222,NA19223,NA19224,NA19225,NA19226,NA19236,NA19237,NA19239,NA19240,NA19248,NA19249,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19350,NA19359,NA19360,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19398,NA19399,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19463,NA19466,NA19468,NA19469,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19661,NA19662,NA19664,NA19669,NA19671,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19684,NA19685,NA19700,NA19701,NA19702,NA19703,NA19705,NA19708,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19771,NA19772,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19904,NA19908,NA19909,NA19914,NA19915,NA19917,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20515,NA20517,NA20518,NA20519,NA20520,NA20522,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20541,NA20543,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20826,NA20828,NA20845,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20858,NA20859,NA20861,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21118,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21314,NA21316,NA21317,NA21318,NA21336,NA21339,NA21344,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21363,NA21364,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21383,NA21385,NA21386,NA21388,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21438,NA21439,NA21441,NA21442,NA21447,NA21451,NA21457,NA21476,NA21477,NA21478,NA21479,NA21480,NA21486,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21510,NA21512,NA21513,NA21517,NA21519,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21611,NA21613,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21634,NA21635,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 dgv89n16 4 9819756 9845274 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436402,nsv435777 M 2 0 2 "" NA15510,NA18505 dgv861n67 4 9820287 9843664 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822477,nsv822479,nsv822474,nsv822478 M 31 0 26 "" AK12,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820611 4 9820287 9843664 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420401 S 1 0 1 "" NA10851 dgv122e180 4 9820287 9844354 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993491,esv1011178 M 3 1 0 "" HuRef nsv513121 4 9820312 9843818 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626613 S 1 0 1 "" 1 nsv820149 4 9820317 9843658 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418691 S 2 1 0 "" AK1 esv5129 4 9820332 9843739 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27570 S 1 0 1 Single Asian sample YH "" YH nsv499031 4 9820358 9843673 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585892 S 9 0 1 "" esv33460 4 9821373 9842673 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101452,essv98744,essv94768,essv101275,essv94369,essv97076,essv95504,essv99040,essv99944,essv99638,essv92649,essv98109,essv99240,essv100532,essv99547,essv96315,essv96245,essv94276 M 51 17 0 "" 21603,21606,21791,21805,21808,21817,21847,21938,22086,22217,22233,22259,22275,22298,22335,22371,22394 nsv822480 4 9822359 9824181 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421638 S 31 0 1 "" NA18997 nsv442893 4 9823254 9844366 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514196 4 9827094 9842084 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627633 S 1414 0 1 "" nsv437910 4 9827739 9856346 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468104,nssv468166,nssv468122,nssv468160,nssv468150,nssv468175,nssv468131,nssv468115,nssv468199,nssv468113,nssv468109,nssv468099,nssv468107,nssv468196,nssv468123,nssv468184,nssv468118,nssv468188,nssv468136,nssv468128,nssv468120,nssv468189,nssv468167,nssv468168,nssv468147,nssv468151,nssv468154,nssv468162,nssv468106,nssv468143,nssv468133,nssv468156,nssv468190,nssv468145,nssv468172,nssv468194,nssv468195,nssv468137,nssv468132,nssv468148,nssv468176,nssv468139,nssv468138,nssv468100,nssv468125,nssv468180,nssv468200,nssv468205,nssv468116,nssv468206,nssv468153,nssv468182,nssv468103,nssv468171,nssv468165,nssv468164,nssv468155,nssv468149,nssv468126,nssv468158,nssv468202,nssv468142,nssv468112,nssv468127,nssv468140,nssv468173,nssv468110,nssv468121,nssv468187,nssv468102,nssv468170,nssv468183,nssv468111,nssv468191,nssv468129,nssv468203,nssv468169,nssv468198,nssv468181,nssv468114,nssv468105,nssv468159,nssv468177,nssv468101,nssv468124,nssv468179,nssv468144,nssv468117,nssv468178,nssv468192,nssv468146,nssv468204,nssv468193,nssv468157,nssv468201,nssv468135,nssv468134,nssv468161 M 269 0 96 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA06993,NA07019,NA07022,NA07055,NA07056,NA07345,NA10831,NA10835,NA10838,NA10839,NA10847,NA10851,NA10856,NA10860,NA10861,NA11829,NA11830,NA11839,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12005,NA12056,NA12057,NA12146,NA12156,NA12234,NA12239,NA12248,NA12249,NA12707,NA12716,NA12717,NA12750,NA12753,NA12761,NA12762,NA12763,NA12812,NA12815,NA12873,NA12892,NA18504,NA18515,NA18523,NA18524,NA18545,NA18561,NA18571,NA18594,NA18632,NA18636,NA18637,NA18852,NA18855,NA18861,NA18871,NA18912,NA18914,NA18945,NA18947,NA18948,NA18956,NA18959,NA18961,NA18964,NA18966,NA18969,NA18975,NA18976,NA18987,NA18990,NA18992,NA18995,NA18998,NA18999,NA19005,NA19092,NA19098,NA19101,NA19103,NA19116,NA19119,NA19120,NA19127,NA19140,NA19143,NA19145,NA19152,NA19154,NA19205 nsv822481 4 9829505 9830071 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438755 S 31 1 0 "" NA18973 nsv10454 4 9871956 9876175 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12258 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 nsv878693 4 9872343 9895399 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547565 S 6533 1 0 "" MS17449 nsv436934 4 9879946 9885450 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466815 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12865 essv24435 4 9880234 9885565 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12865 nsv822482 4 9881193 9883369 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429734 S 31 0 1 "" AK14 nsv461260 4 9881527 9882427 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537674 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00720 nsv520407 4 9881703 9882427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697397 S 2026 0 1 "" nsv523893 4 9881703 9884616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699736 S 2026 0 1 "" nsv441858 4 9881882 9884031 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1579e1 4 9881886 9885080 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22611,essv21482 M 271 0 0 "" NA10830,NA12154 essv3599 4 9883724 9885565 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18969 nsv829858 4 9909334 10101814 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443425,nssv1443424 M 95 1 1 CLNK,ZNF518B nsv519675 4 9931283 9933033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657509,nssv687768 M 2026 0 2 "" dgv1580e1 4 9952797 10154898 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20341,esv391 M 271 0 0 CLNK,ZNF518B NA12236 nsv10455 4 9960884 9962770 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13034 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv4231 4 9965855 9997476 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv370 S 9 1 0 "" NA19240 nsv4233 4 9991541 10019014 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3236 S 9 0 1 "" NA12878 nsv516573 4 9997708 10016670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672933,nssv691165,nssv663193,nssv688346,nssv690523,nssv667218,nssv652481,nssv666655,nssv680632,nssv693698,nssv689711,nssv689382,nssv658597,nssv686297,nssv662151,nssv675318,nssv653412,nssv693787,nssv656593,nssv684888,nssv677221,nssv687701,nssv681839,nssv662300,nssv665933,nssv661768,nssv653730,nssv652223,nssv691069,nssv681471,nssv688127,nssv681006,nssv679956,nssv661051,nssv691335,nssv652724,nssv693065,nssv670941,nssv674238,nssv687351,nssv669069,nssv693341,nssv685229,nssv683088,nssv691989,nssv662495,nssv691254,nssv665294,nssv682139,nssv683677,nssv667549,nssv676449,nssv680888,nssv662690,nssv653144,nssv673226,nssv675966,nssv663155,nssv677198,nssv684153,nssv682240,nssv663678,nssv687111,nssv688227,nssv670720,nssv688031,nssv654058,nssv670859,nssv658561,nssv676813,nssv687853,nssv659669,nssv675474,nssv659507,nssv656924,nssv676875,nssv669122,nssv666215,nssv677621,nssv654865,nssv671573,nssv651850,nssv652024,nssv673348,nssv657670,nssv663547,nssv684626,nssv682987,nssv688867,nssv676507,nssv658288,nssv673032,nssv671499,nssv684871,nssv678227,nssv656617,nssv665499,nssv686605,nssv655069,nssv661156,nssv682851,nssv670323,nssv687674,nssv688707,nssv669649,nssv685125,nssv656014,nssv654082,nssv692248,nssv658387,nssv655508,nssv671377,nssv676593,nssv661111,nssv651990,nssv674545,nssv669345,nssv661912,nssv656264,nssv666617,nssv657791,nssv663220,nssv655042,nssv674642,nssv654829,nssv672556,nssv679564,nssv659280,nssv686405,nssv686567,nssv692677,nssv676556,nssv693860,nssv677482,nssv675298,nssv682355,nssv669438,nssv690536,nssv690220,nssv671875,nssv674281,nssv677173,nssv659250,nssv655635,nssv683452,nssv653142,nssv691485,nssv672404,nssv689117,nssv674593,nssv679303,nssv662126,nssv685520,nssv669362,nssv683565,nssv686365,nssv669480,nssv657385,nssv666109,nssv669714,nssv652874,nssv691313,nssv688556,nssv683752,nssv674347,nssv660902,nssv654632,nssv692522,nssv683347,nssv688472,nssv684604,nssv685948,nssv655530,nssv668641,nssv675946,nssv665152,nssv671401,nssv688402,nssv682180,nssv677775,nssv672871,nssv674570,nssv662863,nssv665841,nssv654708,nssv673383,nssv688428,nssv692284,nssv656952,nssv687221,nssv677155,nssv689902,nssv651950,nssv685587,nssv676827,nssv661254,nssv676897,nssv652633,nssv678817,nssv673757,nssv678128,nssv692852,nssv656129,nssv670289,nssv657748,nssv684213,nssv692218,nssv675415,nssv674057,nssv691266,nssv677903,nssv673091,nssv692454,nssv658418,nssv691630,nssv681556,nssv683288,nssv685764,nssv665770,nssv664413,nssv656363,nssv703779,nssv668136,nssv683496,nssv691527,nssv661571,nssv674171,nssv681435,nssv670078,nssv686454 M 2026 0 230 "" nsv508275 4 9999985 10008938 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617486 S 4 0 1 "" CHM esv33100 4 10000118 10008491 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98907 S 51 0 1 "" 21606 esv25759 4 10001049 10012579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10991 S 451 0 8 "" NA11931,NA12006,NA12287,NA12489,NA12749,NA12828,NA12878,NA18909 dgv42n50 4 10001426 10011355 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511245,nsv513122 M 1 0 1 "" 1 esv2421605 4 10001452 10009766 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5118303,essv5143395,essv5133934,essv5083883,essv5088535,essv5099634,essv5068490,essv5139007,essv5012145,essv5135919,essv5158127,essv5160241,essv5017772,essv5150622,essv5158779,essv5075202,essv5007942,essv5073114,essv5123568,essv5003077,essv5013291,essv5138118,essv5005537,essv5067312,essv5070724,essv5121425,essv5106489,essv5110210,essv5153850,essv5123369,essv5150460,essv5002397,essv5160434,essv5022178,essv5149994,essv5118791,essv5137263,essv5125361,essv5093667,essv5116442,essv5121828,essv5023903,essv5029484,essv5151149,essv5049810,essv5138220,essv5100280,essv5079326,essv5133352,essv5010576,essv5137434,essv5136469,essv5045070,essv5156361,essv5054233,essv5073152,essv5026187,essv5071982,essv5034083,essv5032734,essv5015684,essv5082902,essv5093599,essv5073413,essv5064131,essv5046818,essv5027896,essv5099492,essv5059771,essv5004441,essv5119704,essv5034992,essv5109263,essv5139021,essv5157701,essv5046673,essv5079453,essv5066986,essv5102746,essv5157407,essv5041749,essv5107193,essv5158350,essv5005738,essv5008287,essv5121673,essv5012750,essv5083550,essv5037512,essv5147228,essv5029227,essv5108581,essv5053826,essv5011536,essv5037763,essv5124560,essv5115755,essv5037146,essv5082153,essv5028042,essv5073044,essv5024700,essv5099643,essv5050983,essv5129939,essv5037522,essv5029499,essv5062824,essv5039957,essv5061928,essv5134161,essv5130171,essv5014661,essv5007650,essv5109642,essv5015060,essv5013912,essv5098134,essv5024253,essv5154280,essv5158403,essv5152804,essv5046567,essv5086786,essv5124568,essv5067489,essv5142483,essv5038456,essv5039104,essv5135254,essv5140173,essv5037016,essv5158812,essv5152960,essv5122726,essv5029628,essv5093263,essv5138096,essv5039417,essv5020455,essv5092574,essv5146171,essv5036113,essv5098674,essv5041198,essv5079767,essv5085378,essv5125968,essv5040539,essv5101255,essv5013636,essv5067577,essv5095792,essv5060564,essv5100777,essv5092838,essv5081425,essv5094058,essv5140757,essv5121140,essv5065578,essv5052091,essv5062895,essv5013278,essv5107874,essv5056906,essv5090970,essv5115244,essv5066505,essv5028239,essv5103799,essv5130343,essv5105199,essv5024720,essv5097155,essv5088131,essv5015356,essv5135869,essv5122735,essv5155535,essv5043087,essv5042376,essv5043786,essv5031893,essv5140246,essv5027058,essv5022645,essv5028811,essv5093185,essv5013555,essv5120787,essv5138199,essv5025911,essv5083672,essv5015924,essv5030513,essv5008279,essv5142850,essv5004912,essv5069695,essv5068381,essv5063521,essv5035167,essv5002110,essv5027086,essv5086274,essv5110304,essv5015269,essv5154091,essv5094764,essv5089477,essv5147310,essv5100224,essv5002918,essv5101565,essv5075907,essv5019216,essv5042916,essv5110679,essv5006550,essv5160469,essv5063606,essv5062866,essv5112429,essv5108226,essv5026583,essv5094220,essv5070190,essv5124945,essv5048748,essv5098381,essv5098515,essv5084663,essv5089557,essv5008736,essv5142301,essv5016534,essv5026776,essv5021950,essv5027326,essv5107096,essv5035392,essv5104967,essv5103980,essv5153348,essv5065427,essv5126439,essv5095574,essv5120498,essv5148679,essv5153565,essv5041495,essv5134889,essv5021647,essv5041156,essv5060153,essv5068774,essv5077790,essv5033721,essv5132193,essv5022493,essv5010737,essv5136253,essv5126480 M 1184 0 264 "" NA06984,NA06986,NA06994,NA06995,NA07000,NA07014,NA07029,NA07031,NA07045,NA07051,NA07346,NA07348,NA07349,NA07357,NA07435,NA10830,NA10836,NA10843,NA10845,NA10846,NA10854,NA10855,NA10859,NA10863,NA10864,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11893,NA11917,NA11919,NA11930,NA11931,NA12006,NA12043,NA12044,NA12144,NA12145,NA12264,NA12273,NA12282,NA12283,NA12287,NA12335,NA12340,NA12376,NA12386,NA12400,NA12489,NA12718,NA12739,NA12749,NA12752,NA12760,NA12777,NA12778,NA12801,NA12802,NA12813,NA12814,NA12828,NA12829,NA12830,NA12842,NA12872,NA12874,NA12878,NA12891,NA17962,NA17965,NA17966,NA17967,NA17975,NA17980,NA17988,NA17996,NA17999,NA18109,NA18124,NA18129,NA18136,NA18138,NA18151,NA18152,NA18485,NA18487,NA18518,NA18520,NA18529,NA18550,NA18557,NA18563,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18609,NA18611,NA18612,NA18616,NA18617,NA18620,NA18622,NA18628,NA18631,NA18641,NA18685,NA18696,NA18740,NA18745,NA18748,NA18757,NA18870,NA18872,NA18909,NA18946,NA18951,NA18954,NA18963,NA18965,NA18971,NA18981,NA18993,NA18997,NA19002,NA19010,NA19054,NA19055,NA19058,NA19072,NA19078,NA19079,NA19122,NA19123,NA19221,NA19222,NA19372,NA19376,NA19399,NA19649,NA19650,NA19652,NA19653,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19670,NA19675,NA19677,NA19678,NA19679,NA19682,NA19683,NA19685,NA19686,NA19704,NA19705,NA19760,NA19770,NA19772,NA19773,NA19776,NA19778,NA19780,NA19781,NA19782,NA19794,NA19795,NA19796,NA19819,NA19834,NA19835,NA19836,NA19908,NA19917,NA19918,NA19919,NA20279,NA20289,NA20334,NA20335,NA20341,NA20342,NA20505,NA20512,NA20516,NA20520,NA20525,NA20528,NA20529,NA20530,NA20531,NA20535,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20586,NA20588,NA20761,NA20769,NA20770,NA20772,NA20773,NA20774,NA20786,NA20792,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20806,NA20807,NA20808,NA20813,NA20819,NA20847,NA20850,NA20856,NA20862,NA20866,NA20870,NA20882,NA20888,NA20889,NA20892,NA20896,NA20899,NA20902,NA20903,NA20906,NA20908,NA21086,NA21088,NA21099,NA21101,NA21102,NA21106,NA21115,NA21117,NA21119,NA21142,NA21371,NA21390,NA21402,NA21404,NA21420,NA21457,NA21650,NA21683,NA21738 nsv442894 4 10001452 10009766 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818215 4 10006425 10008166 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415564,nssv1415563 M 112 0 2 "" NA10830,NA12236 dgv646n27 4 10006425 10009254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461262,nsv461263 M 1557 0 2 "" 1780862226_A,HGDP01177 nsv437911 4 10006425 10009254 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468212,nssv468215,nssv468214,nssv468209,nssv468211,nssv468210,nssv468213,nssv468207,nssv468216 M 269 0 9 Samples from several populations that are part of the HapMap project. "" NA10846,NA10855,NA10857,NA11831,NA11832,NA11840,NA12044,NA12236,NA18971 nsv818216 4 10006425 10009254 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417242,nssv1417352,nssv1416695,nssv1416717,nssv1417487,nssv1417536,nssv1417982,nssv1417983,nssv1416706 M 112 0 9 "" NA07348,NA07357,NA10857,NA12043,NA12044,NA18577,NA18612,NA18965,NA18971 dgv647n27 4 10006425 10011936 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461264,nsv461265,nsv461266 M 1557 0 3 "" HGDP01363,HGDP01364,HGDP01379 dgv862n67 4 10007962 10009026 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822483,nsv822486,nsv822484 M 31 0 7 "" AK16,AK2,AK20,NA18547,NA18582,NA18951,NA18997 nsv822485 4 10007962 10011538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427432 S 31 0 1 "" AK8 nsv517971 4 10008166 10502351 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695383 S 2026 1 0 CLNK,ZNF518B nsv514197 4 10008203 10008848 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627634 S 1414 0 1 "" nsv289806 4 10010063 10016991 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308384 M 24 "" dgv5479n71 4 10016670 10440964 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878697,nsv878694 M 6533 2 0 CLNK,ZNF518B MS16851,SP55822 nsv292792 4 10084582 10087203 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311370 M 24 "" dgv5480n71 4 10094085 10137324 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878696,nsv878695 M 6533 2 0 CLNK IS40799,MS26100 nsv820003 4 10100293 10101101 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419088 S 2 1 0 CLNK AK1 nsv4234 4 10122519 10156418 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7924 S 9 1 0 CLNK NA12156 nsv878698 4 10145642 10241502 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565575 S 6533 1 0 CLNK IS30473 nsv525514 4 10154951 10160658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701647 S 2026 0 1 CLNK nsv518387 4 10155457 10156441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694231 S 2026 0 1 CLNK esv32732 4 10159978 10160407 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98836 S 51 0 1 CLNK 21606 nsv829860 4 10207841 10373952 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443426,nssv1443427 M 95 2 0 CLNK esv270477 4 10241757 10247844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577270,essv2520389,essv2576164,essv2519983,essv2537943,essv2563384 M 157 6 0 Samples from several populations that are part of the HapMap project. CLNK NA07000,NA10847,NA12043,NA12716,NA12814,NA12815 nsv527914 4 10256682 10264316 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704420 S 2026 1 0 CLNK esv2797 4 10264635 10264861 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25238 S 1 0 1 Single Asian sample YH CLNK YH esv259537 4 10278358 10278663 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394091,essv2393903,essv2393692,essv2394354 M 6 0 0 Samples from several populations that are part of the HapMap project. CLNK NA12878,NA12891,NA19238,NA19240 esv260069 4 10278371 10278677 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394736,essv2399064,essv2398505,essv2397328,essv2401050,essv2395638,essv2397659,essv2398837,essv2399456,essv2394623,essv2397946,essv2397482,essv2395435,essv2397736,essv2397393,essv2398762,essv2401020,essv2395159,essv2396426,essv2395991,essv2400512 M 144 0 0 Samples from several populations that are part of the HapMap project. CLNK NA07357,NA10851,NA11894,NA12878,NA12891,NA18501,NA18502,NA18582,NA18858,NA18870,NA18907,NA18947,NA18948,NA18956,NA18980,NA19005,NA19099,NA19108,NA19138,NA19238,NA19240 esv6946 4 10309982 10310079 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29387 S 1 1 0 "" SJK nsv822488 4 10318262 10393809 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429735 S 31 0 1 "" AK14 esv270038 4 10331348 10331604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510177,essv2510983,essv2511383,essv2511171,essv2505153,essv2502318,essv2499427,essv2508066,essv2501698,essv2505519,essv2513158,essv2510315,essv2495877,essv2503433,essv2508547,essv2508900,essv2500307,essv2502784,essv2496853,essv2511908,essv2494332,essv2496471,essv2496281,essv2494706,essv2509036,essv2500440,essv2497351,essv2512974,essv2494533,essv2497145,essv2497796,essv2499987,essv2504580,essv2507900,essv2511301,essv2500669,essv2494415,essv2507629,essv2512674,essv2508096,essv2509991,essv2496095,essv2499262,essv2501603,essv2512904,essv2507459,essv2513518,essv2509188,essv2495491,essv2511621,essv2511097,essv2493139,essv2505472,essv2500589,essv2497431,essv2503706,essv2495165,essv2500748,essv2505622,essv2506914,essv2506430,essv2499782,essv2502192,essv2503620,essv2495784,essv2503969,essv2495021,essv2511571,essv2499577 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10851,NA11831,NA11920,NA11931,NA11995,NA12004,NA12044,NA12045,NA12144,NA12154,NA12249,NA12414,NA12489,NA12716,NA12717,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18510,NA18511,NA18519,NA18522,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18907,NA18909,NA18916,NA18940,NA18944,NA18951,NA18952,NA18956,NA18959,NA18960,NA18964,NA18973,NA19005,NA19102,NA19108,NA19225,NA19257 esv272721 4 10331354 10331484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580647 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv1621920 4 10331391 10331391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015287 S 2 1 0 "" HuRef esv274908 4 10333155 10340162 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585852,essv2586172 M 1250 1 1 "" nsv292167 4 10334620 10334620 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310745 M 24 "" esv998544 4 10334640 10334640 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574261 S 3 1 0 "" HuRef esv1293111 4 10334641 10334641 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654128 S 2 1 0 "" HuRef esv25972 4 10334827 10335878 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20466,esv12254 M 451 9 0 "" NA11894,NA12006,NA12414,NA12749,NA12776,NA12828,NA19114,NA19147,NA19240 nsv878699 4 10354029 10484031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516785,nssv1508705 M 6533 0 2 "" SP54607,SP56937 nsv289743 4 10472769 10473234 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308321 M 24 "" nsv461267 4 10484031 10878977 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537681 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00088 esv2110392 4 10513787 10514220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564903 S 1 0 1 "" NA18507 nsv822489 4 10572732 10573248 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422538,nssv1441005 M 31 0 2 "" NA18552,NA18969 nsv878700 4 10636912 10678363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503231 S 6533 0 1 "" SP52017 nsv509880 4 10637310 10643310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618596 S 4 0 1 "" CHM nsv829861 4 10649615 10812086 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443428 S 95 1 0 "" esv2441822 4 10649921 10652459 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318403 S 1 0 1 "" NA18507 esv2033276 4 10650419 10651937 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617259 S 1 0 1 "" NA18507 esv25757 4 10650656 10651771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10116 S 451 0 5 "" NA18508,NA18907,NA18916,NA19099,NA19257 nsv4235 4 10662681 10688282 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2451 S 9 1 0 "" NA18555 nsv878701 4 10669581 10753898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524627 S 6533 1 0 "" SP55132 nsv522287 4 10683526 10782883 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695069 S 2026 1 0 "" esv2233880 4 10802368 10802771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499403 S 1 0 1 "" NA18507 nsv507148 4 10847754 10853754 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620234 S 4 1 0 "" NA15510 nsv525832 4 10914208 10937654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702022 S 2026 0 1 "" esv2162701 4 10971105 10971522 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845409 S 1 0 1 "" NA18507 nsv829862 4 11015475 11205250 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443430,nssv1443431 M 95 1 1 HS3ST1 esv275194 4 11056067 11057742 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586055,essv2586153 M 1250 1 1 "" nsv528730 4 11135854 11640834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705386 S 2026 0 1 "" nsv461268 4 11157553 11228089 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537682 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460 esv34072 4 11174705 11447832 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2573246 4 11176124 11177061 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169623 S 1 1 0 "" NA18507 esv2381729 4 11210312 11210730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4537640 S 1 0 1 "" NA18507 esv27857 4 11242519 11243235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15095 S 451 0 1 "" NA18502 dgv82n17 4 11259329 11289666 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437364,nsv437363,nsv437365 M 60 0 3 "" NA18860,NA18872,NA19120 dgv1581e1 4 11270340 11281340 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12111,essv8411,essv13405,esv1056 M 271 0 0 "" NA18872,NA19093,NA19173 nsv524768 4 11272467 11276069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700759 S 2026 0 1 "" nsv818217 4 11272467 11276069 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418264,nssv1418263 M 112 0 2 "" NA19093,NA19094 nsv10456 4 11275448 11281498 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12831,nssv11908,nssv12539 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18860,NA19144,NA19173 nsv517217 4 11275490 11276069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690107,nssv667095,nssv667754,nssv654039,nssv679597,nssv661283,nssv686185,nssv690409,nssv680776,nssv686879,nssv681130,nssv652436,nssv673685,nssv659021,nssv673488,nssv661329,nssv684653,nssv662472,nssv693108 M 2026 0 19 "" dgv1582e1 4 11275490 11279200 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8688,essv16373 M 271 0 0 "" NA18912,NA19172 dgv1583e1 4 11275490 11281340 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9852,essv14921,essv12925,essv11356,essv16602,essv11325,essv8895,essv15446 M 271 0 0 "" NA18858,NA18860,NA19094,NA19128,NA19129,NA19144,NA19171,NA19206 esv2421410 4 11275562 11278548 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022719,essv5130582,essv5068238,essv5110284,essv5081231,essv5152638,essv5102417,essv5076165,essv5057155,essv5055541,essv5002118,essv5057241,essv5032853,essv5086309,essv5041243,essv5082653,essv5152377,essv5150151,essv5063385,essv5135488,essv5099435,essv5152973,essv5121886,essv5100546,essv5039918,essv5116937,essv5089683,essv5016278,essv5102100,essv5048775,essv5152507,essv5028941,essv5098465,essv5118366,essv5016402,essv5015472,essv5142027,essv5028287,essv5125950,essv5054455,essv5065807,essv5063119,essv5110985,essv5042268,essv5037412,essv5011706,essv5112584,essv5065330,essv5060450,essv5143254,essv5033056,essv5006487,essv5099052,essv5061611,essv5019982,essv5043920,essv5084069,essv5084657,essv5063729,essv5030900 M 1184 0 60 "" NA18497,NA18498,NA18500,NA18501,NA18858,NA18860,NA18870,NA18872,NA18874,NA18875,NA18912,NA19028,NA19041,NA19044,NA19093,NA19094,NA19116,NA19120,NA19128,NA19129,NA19140,NA19144,NA19171,NA19172,NA19173,NA19181,NA19185,NA19186,NA19206,NA19214,NA19236,NA19237,NA19247,NA19313,NA19381,NA19403,NA19456,NA19472,NA19703,NA19705,NA19713,NA19762,NA19763,NA19904,NA19917,NA19921,NA19983,NA20129,NA20281,NA20297,NA20322,NA20341,NA20357,NA20358,NA21311,NA21314,NA21400,NA21401,NA21521,NA21682 esv26841 4 11275688 11279773 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10600 S 451 0 2 "" NA18858,NA19129 nsv507149 4 11323518 11329518 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622879,nssv621736,nssv617625 M 4 3 0 "" CHM,NA10860,NA18994 esv999662 4 11328167 11328171 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563630 S 3 1 0 "" HuRef esv1186406 4 11328171 11328171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047144 S 2 1 0 "" HuRef nsv829863 4 11338700 11488865 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443432 S 95 0 1 "" nsv461269 4 11353486 11399679 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537683 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01172 esv269802 4 11474993 11475411 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504199,essv2503660 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA18505 nsv521641 4 11545502 11565818 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698259 S 2026 1 0 "" nsv525492 4 11565818 11612149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701623 S 2026 0 1 "" dgv5481n71 4 11700141 11821735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878702,nsv878703 M 6533 0 4 "" IS38207,IS41809,IS41862,MS23257 esv21510 4 11763040 11771946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16830 S 451 0 1 "" NA12749 nsv515754 4 11763311 11779045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679830,nssv664689,nssv670324 M 2026 0 3 "" nsv878704 4 11779045 11865523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567648 S 6533 0 1 "" IS31137 nsv527745 4 11783760 11821735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704231 S 2026 0 1 "" esv272361 4 11806136 11806492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580903 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271996 4 11806189 11806533 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500873,essv2495265,essv2504450,essv2500193,essv2501675,essv2505545,essv2493442,essv2493358,essv2508806,essv2500320,essv2502763,essv2511905,essv2493716,essv2507579,essv2498612,essv2494082,essv2513476,essv2503149,essv2497953,essv2503559,essv2502399,essv2500506,essv2495995,essv2502728,essv2512774,essv2506621,essv2499010,essv2501762,essv2511565 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11992,NA11993,NA12006,NA12144,NA12154,NA12763,NA12776,NA12878,NA12891,NA12892,NA18499,NA18517,NA18638,NA18858,NA18871,NA18907,NA18943,NA18945,NA18947,NA18948,NA18956,NA18961,NA18965,NA18980,NA19108,NA19114,NA19239 esv1262640 4 11848387 11848387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743863 S 2 1 0 "" HuRef nsv818218 4 11865523 11902669 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417850 S 112 1 0 "" NA18852 esv29118 4 11935915 11937175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18686 S 451 0 1 "" NA19099 esv34050 4 11948645 12425142 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" dgv648n27 4 11970300 11993045 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461273,nsv461274,nsv461275,nsv461271,nsv461270 M 1557 0 5 "" HGDP00724,HGDP00914,HGDP00940,HGDP01035,HGDP01271 nsv437366 4 11973437 11995668 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467247 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 nsv10457 4 11974410 12001629 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11900 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv470017 4 11974561 11993045 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546282,nssv546280,nssv546279,nssv546281 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00919,HGDP00935,HGDP00940,HGDP01271 nsv515588 4 11974561 11993045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663307,nssv671447,nssv680399,nssv679323,nssv665805,nssv667921,nssv655948,nssv662473,nssv664009,nssv664125,nssv656518,nssv686721,nssv685966,nssv662362,nssv680437,nssv678896,nssv656826,nssv656862,nssv676939,nssv676489,nssv673438,nssv664089,nssv687617,nssv669161,nssv686231,nssv654963,nssv685101,nssv680861,nssv685462,nssv661284 M 2026 0 30 "" esv2421566 4 11974561 11994014 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121063,essv5037460,essv5076969,essv5050709,essv5139807,essv5139394,essv5081080,essv5052874,essv5082272,essv5113038,essv5065593,essv5148180,essv5003610,essv5088379,essv5064448,essv5027421,essv5157794,essv5157427 M 1184 0 18 "" NA18853,NA18854,NA18861,NA18863,NA19127,NA19152,NA19175,NA19178,NA19189,NA19191,NA19197,NA19199,NA19222,NA19708,NA19917,NA20276,NA20348,NA20357 nsv878705 4 11974561 12161551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538079 S 6533 0 1 "" MS13480 esv29035 4 11980734 11994829 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13314 S 451 0 1 "" NA18861 nsv818219 4 11983684 11993045 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417851,nssv1417852 M 112 0 2 "" NA18853,NA18854 nsv437912 4 11984155 11993045 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468221,nssv468218,nssv468217,nssv468220 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18861,NA18863 nsv442895 4 11986711 11988353 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1584e1 4 12106273 12268488 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv411,essv23957 M 271 0 0 "" NA12814 nsv878706 4 12112312 12208233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587384 S 6533 0 1 "" IS38031 esv2584457 4 12127482 12129048 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181045 S 1 0 1 "" NA18507 nsv829864 4 12138656 12253679 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443433,nssv1443434 M 95 1 1 "" nsv461276 4 12197192 12214476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537690 S 1557 0 1 "" NINDS_114 nsv521124 4 12197192 12214476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687352,nssv682661 M 2026 0 2 "" dgv5482n71 4 12197192 12334262 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878707,nsv878708 M 6533 2 0 "" MS18205,MS20546 esv270086 4 12257743 12257925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493245,essv2504116,essv2509120,essv2505281,essv2501039,essv2498473,essv2505933,essv2498695,essv2510505 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18522,NA18853,NA18856,NA18858,NA18861,NA19138,NA19172 nsv292078 4 12259026 12259629 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310656 M 24 "" esv1038585 4 12259228 12259228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134727 S 2 1 0 "" HuRef esv1103064 4 12259345 12259345 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811193 S 2 1 0 "" HuRef nsv10458 4 12270795 12288238 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12241 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv1656687 4 12276639 12276639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818111 S 2 1 0 "" HuRef esv1773554 4 12276707 12276707 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671141 S 2 1 0 "" HuRef esv1408118 4 12276738 12277297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887360 S 2 0 1 "" HuRef esv1637869 4 12277889 12277889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636644 S 2 1 0 "" HuRef esv1639526 4 12277975 12277975 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260284 S 2 1 0 "" HuRef nsv507150 4 12321952 12327952 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621737,nssv620235 M 4 2 0 "" NA10860,NA15510 esv1061642 4 12324802 12324802 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217466 S 2 1 0 "" HuRef nsv829865 4 12351828 12499609 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443436,nssv1443435 M 95 0 2 "" esv1005162 4 12500313 12500313 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572250 S 3 1 0 "" HuRef esv2016067 4 12592159 12592571 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939916 S 1 0 1 "" NA18507 nsv878709 4 12603299 12646261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540738 S 6533 0 1 "" MS15008 nsv4236 4 12667651 12700013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2452 S 9 1 0 "" NA18555 esv1365969 4 12672778 12672968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834030 S 2 0 1 "" HuRef nsv4237 4 12695542 12714122 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7925 S 9 0 1 "" NA12156 nsv515687 4 12707980 12708914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692192,nssv664396 M 2026 0 2 "" nsv829866 4 12833261 13034436 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443437 S 95 0 1 HSP90AB2P,RAB28 dgv1585e1 4 12861246 12901399 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1149,essv5673 M 271 0 0 "" NA18605 nsv525924 4 12864996 12866760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702128 S 2026 0 1 "" nsv4238 4 12939128 12972507 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7926 S 9 1 0 HSP90AB2P NA12156 esv25888 4 12989994 12991264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10088 S 451 0 1 RAB28 NA11993 nsv4239 4 13175058 13233120 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv371,nssv4728 M 9 2 0 BOD1L NA19129,NA19240 esv270988 4 13204842 13210960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509410 S 157 1 0 Samples from several populations that are part of the HapMap project. BOD1L NA19129 esv2526404 4 13296383 13297672 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301573 S 1 0 1 "" NA18507 nsv4240 4 13323907 13330272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9638 S 9 1 0 "" NA18507 esv270618 4 13441759 13442087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511011,essv2512577,essv2496553,essv2506193,essv2505942,essv2507162,essv2498655,essv2510420,essv2497020,essv2512096,essv2501987 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA18489,NA18510,NA18523,NA18861,NA18870,NA19138,NA19172,NA19190,NA19238,NA19239 esv272171 4 13441764 13442126 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580133,essv2580339 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv4241 4 13597622 13646255 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7068,nssv3237 M 9 2 0 "" NA12156,NA12878 nsv829867 4 13610143 13772066 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443439,nssv1443444,nssv1443438,nssv1443443,nssv1443442,nssv1443441,nssv1443446,nssv1443445 M 95 4 4 LOC152742 nsv7359 4 13661677 13684305 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4729 S 9 0 0 "" NA19129 esv2616775 4 13712363 13714000 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361782 S 1 0 1 "" NA18507 esv2152336 4 13712723 13713713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776926 S 1 0 1 "" NA18507 nsv526873 4 13791562 13792302 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703231 S 2026 1 0 "" esv2376271 4 13815276 13815609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608415 S 1 0 1 "" NA18507 nsv291865 4 13815423 13815498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310443 M 24 "" nsv4242 4 13830654 13834092 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7928 S 9 1 0 "" NA12156 nsv518829 4 13845110 13851130 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696283 S 2026 0 1 "" esv2639752 4 13899919 13901301 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351833 S 1 0 1 "" NA18507 esv1338745 4 13930617 13930617 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204276 S 2 1 0 "" HuRef nsv292324 4 14000257 14000442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310902 M 24 "" nsv517439 4 14026602 14040485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652026,nssv673169 M 2026 0 2 "" esv1282581 4 14102439 14102513 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086084 S 2 0 1 "" HuRef nsv527915 4 14102831 14361683 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704421 S 2026 1 0 "" nsv526875 4 14219486 14219547 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703233 S 2026 1 0 "" nsv878710 4 14266245 14337281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570961 S 6533 0 1 "" IS32382 nsv290927 4 14337011 14337011 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309505 M 24 "" esv989321 4 14337012 14337012 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580507 S 3 1 0 "" HuRef esv1235882 4 14337013 14337013 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944676 S 2 1 0 "" HuRef nsv518501 4 14380217 14453503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695941 S 2026 0 1 "" dgv136n6 4 14397697 14397805 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293754,nsv291498 M 24 "" esv1010667 4 14443686 14448274 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563459 S 3 1 0 "" HuRef esv1490838 4 14444681 14444681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846835 S 2 1 0 "" HuRef dgv863n67 4 14446535 14448478 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822490,nsv822491 M 31 0 2 "" NA18537,NA18947 nsv820840 4 14446535 14448478 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420404 S 1 0 1 "" NA10851 nsv822492 4 14448041 14449080 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426586 S 31 0 1 "" AK6 nsv528647 4 14512703 14516033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705279 S 2026 0 1 "" esv1232943 4 14525315 14525412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776875 S 2 0 1 LOC441009 HuRef nsv508998 4 14532588 14535097 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620784,nssv623408 M 4 2 0 LOC441009 NA15510,NA18994 esv1205571 4 14533365 14533365 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353067 S 2 1 0 LOC441009 HuRef esv1516048 4 14533407 14533407 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758030 S 2 1 0 LOC441009 HuRef esv1492264 4 14534460 14534534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143192 S 2 0 1 LOC441009 HuRef nsv4244 4 14556364 14588186 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4731,nssv373 M 9 2 0 LOC441009 NA19129,NA19240 esv1009627 4 14558229 14559022 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564177 S 3 1 0 LOC441009 HuRef nsv508999 4 14560998 14574236 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623409,nssv620785 M 4 2 0 LOC441009 NA15510,NA18994 esv991701 4 14564561 14566537 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564599 S 3 1 0 LOC441009 HuRef esv9198 4 14565922 14566020 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31639 S 1 1 0 LOC441009 SJK esv6156 4 14565966 14566031 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28597 S 1 1 0 LOC441009 SJK nsv292436 4 14566000 14566000 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311014 M 24 LOC441009 nsv461280 4 14571594 14690472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537691 S 1557 0 1 CPEB2,LOC441009 1782681169_A nsv829868 4 14573657 14773804 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443447 S 95 1 0 CPEB2,LOC441009 esv29275 4 14612434 14616123 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20486 S 451 0 2 CPEB2,LOC441009 NA12749,NA12878 esv2437263 4 14636649 14638059 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176104 S 1 0 1 CPEB2 NA18507 nsv518661 4 14654994 14659824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696111 S 2026 0 1 CPEB2 nsv878711 4 14672643 14729472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582226 S 6533 0 1 CPEB2 IS35862 dgv5483n71 4 14694227 14754278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878713,nsv878712 M 6533 0 6 "" IS33530,IS38630,MS16824,MS17958,MS20753,MS22858 nsv517324 4 14705621 14715134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689315,nssv695781,nssv687729,nssv686882,nssv687619,nssv681669,nssv667128,nssv668019,nssv678870,nssv651722,nssv685823,nssv656519,nssv672744,nssv680308 M 2026 0 14 "" nsv518019 4 14711014 14728077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694060 S 2026 0 1 "" nsv510888 4 14781332 14896151 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621570 S 4 0 0 "" NA15510 nsv507151 4 14788625 14794625 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621738,nssv617626,nssv622880 M 4 3 0 "" CHM,NA10860,NA18994 esv2321959 4 14823289 14823715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699531 S 1 0 1 "" NA18507 nsv290191 4 14823454 14823529 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308769 M 24 "" nsv290793 4 14823499 14823572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309371 M 24 "" esv1320326 4 14823503 14823577 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647291 S 2 0 1 "" HuRef esv25054 4 14832219 14832761 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16446 S 451 1 0 "" NA18508 nsv507152 4 14881736 14887736 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621739,nssv622881 M 4 2 0 "" NA10860,NA18994 esv2623009 4 14960533 14961523 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340506 S 1 1 0 C1QTNF7 NA18507 dgv1586e1 4 15053715 15358618 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4384,esv120,essv19179,essv22666 M 271 0 0 BST1,C1QTNF7,CC2D2A,FAM200B,FBXL5 NA12752,NA12865,NA18573 dgv1587e1 4 15166059 15358618 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14113,essv14397,essv3019,essv16088,essv11856,essv656,essv1851,essv2824,essv17635,essv18588,essv19777,essv16766,essv7021,essv3993,essv22056,essv10354,essv22175,essv7321,essv8273,essv7392,essv14580,essv7850,essv8880,essv12455,essv13178,essv20160,essv7591,essv16436,essv24722,essv4150,essv7739,essv22971,essv16821,essv1245,essv15411,essv24754,essv2634,essv11120,essv14779,essv9414,essv22318,essv6001,essv1418,essv20898,essv5092,essv8632,essv10793,essv5155,essv23676,essv5791,essv5019,essv14362,essv13807,essv22898,essv21696,essv13711,essv22774,essv21962,essv17055,essv4093,essv16670,essv8950,essv6237,essv8173,essv4960,essv13074,essv20366,essv9384,essv13453,essv24516,essv13925,essv10624,essv11585,essv23057,essv19285,essv9090,essv21032,essv19968,essv8376,essv24563,essv12982,essv7691,essv9109,essv16282,essv21455,essv23882,essv17733,essv18150,essv19574,essv10817,essv5386,essv10416,essv18377,essv6686,essv15691,essv6967,essv21220,essv18772,essv12748,essv21772,essv2341,essv15223,essv21317,essv19421,essv20635,essv2081,essv19007,essv1197,essv10036,essv7111,essv6364,essv2871,essv6823,essv3272,essv13557,essv2217,essv3745,essv23460,essv20597,essv14853,essv3530,essv2301,essv11779,essv15519,essv109,essv3131,essv16055,essv15131,essv4755,essv24467 M 271 0 0 BST1,CC2D2A,FAM200B,FBXL5 NA06985,NA06991,NA07019,NA07034,NA07056,NA07357,NA10830,NA10835,NA10838,NA10857,NA10860,NA10863,NA11829,NA11830,NA11832,NA11840,NA11992,NA11993,NA11995,NA12005,NA12056,NA12154,NA12234,NA12239,NA12248,NA12249,NA12717,NA12753,NA12760,NA12801,NA12802,NA12812,NA12813,NA12814,NA12864,NA12872,NA12874,NA12878,NA12892,NA18501,NA18504,NA18505,NA18506,NA18507,NA18508,NA18522,NA18523,NA18537,NA18542,NA18545,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18608,NA18609,NA18612,NA18620,NA18623,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18860,NA18861,NA18871,NA18872,NA18912,NA18914,NA18940,NA18944,NA18949,NA18951,NA18953,NA18960,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18972,NA18975,NA18976,NA18981,NA18987,NA18995,NA19094,NA19099,NA19100,NA19102,NA19103,NA19119,NA19129,NA19132,NA19139,NA19142,NA19153,NA19159,NA19160,NA19161,NA19172,NA19173,NA19192,NA19194,NA19200,NA19202,NA19203,NA19205,NA19206,NA19207,NA19208,NA19211,NA19221,NA19222,NA19239 nsv428439 4 15166059 15358618 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454416,nssv454417,nssv454418,nssv454415,nssv454414 M 62 2 3 BST1,CC2D2A,FAM200B,FBXL5 HGDP00462,HGDP00463,HGDP00474,HGDP00986,NA19257 esv26392 4 15215299 15216505 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12941 S 451 1 0 FBXL5 NA18909 dgv315n21 4 15219869 15301234 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521183,nsv518830 M 2026 0 2 FAM200B,FBXL5 esv1293360 4 15226219 15226219 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970788 S 2 1 0 FBXL5 HuRef esv27769 4 15236048 15236685 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20477 S 451 4 0 FBXL5 NA18505,NA18909,NA19099,NA19190 nsv292453 4 15247398 15249228 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311031 M 24 FBXL5 dgv864n67 4 15314137 15315471 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822493,nsv822494 M 31 0 2 BST1 NA18582,NA18973 esv27101 4 15314142 15315677 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20430 S 451 0 1 BST1 NA18909 nsv10459 4 15330441 15333680 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13063,nssv11938 M 31 0 2 Samples from several populations that are part of the HapMap project. BST1 NA18504,NA19144 nsv822495 4 15340580 15342484 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436537 S 31 0 1 BST1 NA18542 nsv10460 4 15366709 15427304 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12569,nssv12942 M 31 0 2 Samples from several populations that are part of the HapMap project. CD38 NA18502,NA19173 esv2421413 4 15369169 15377565 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029856,essv5059319,essv5115611,essv5113112,essv5029845,essv5003388,essv5114900,essv5103178,essv5098654,essv5143074,essv5015799,essv5029105,essv5064992,essv5032902,essv5074753,essv5095916,essv5113610,essv5086061,essv5010759,essv5105329,essv5137861,essv5149010,essv5023258,essv5008023,essv5034017,essv5021400,essv5007177 M 1184 0 27 "" NA18503,NA18505,NA18520,NA19041,NA19172,NA19173,NA19181,NA19383,NA19456,NA19466,NA19625,NA19901,NA19902,NA20276,NA20277,NA20302,NA20340,NA20345,NA20346,NA20347,NA21359,NA21361,NA21367,NA21493,NA21716,NA21718,NA21741 nsv441859 4 15369169 15377565 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv436428 4 15369273 15377929 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466079 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25160 4 15369549 15377920 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11795 S 451 0 2 "" NA18502,NA18505 nsv516315 4 15369585 15376850 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678897,nssv667530,nssv675509,nssv680750 M 2026 0 4 "" nsv514198 4 15369813 15373811 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627635 S 1414 0 1 "" nsv514199 4 15374950 15377475 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627636 S 1414 0 1 "" nsv878714 4 15449937 15504889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557069 S 6533 0 1 CD38 MS22353 nsv878715 4 15449937 15556591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585730 S 6533 0 1 CD38,FGFBP1 IS37639 nsv527861 4 15459084 16552088 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704359 S 2026 1 0 CD38,FGFBP1,FGFBP2,FLJ39653,LDB2,PROM1,TAPT1 esv267926 4 15481223 15487314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504020 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv293033 4 15503076 15503125 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311611 M 24 "" nsv4245 4 15510876 15517831 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3238 S 9 1 0 "" NA12878 dgv5484n71 4 15520129 15559829 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878717,nsv878716 M 6533 2 0 FGFBP1 IS36396,IS40809 dgv5485n71 4 15534268 15556591 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878719,nsv878718 M 6533 3 0 FGFBP1 IS36442,IS37992,IS39999 nsv526159 4 15551900 15552238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702418 S 2026 0 1 "" esv259995 4 15555984 15558165 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395376,essv2401011 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18916,NA19099 nsv461281 4 15593131 15610476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537692 S 1557 0 1 PROM1 1782681275_A nsv527202 4 15610476 15611386 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703602 S 2026 0 1 PROM1 esv22438 4 15762513 15763445 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13992 S 451 0 1 "" NA18907 nsv4246 4 15793619 15828294 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3240 S 9 1 0 TAPT1 NA12878 nsv878720 4 15831144 15851313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518126 S 6533 0 1 FLJ39653,TAPT1 SP57469 esv24752 4 15836658 15837635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20417 S 451 0 1 FLJ39653,TAPT1 NA12878 esv3113 4 15913888 15914175 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25554 S 1 0 1 Single Asian sample YH "" YH nsv289848 4 15934349 15934468 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308426 M 24 "" nsv517721 4 15959637 15974946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674173,nssv666795,nssv699703,nssv705297,nssv652983,nssv668111 M 2026 0 6 "" esv9406 4 15965661 15965717 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31847 S 1 1 0 "" SJK nsv518102 4 15995547 16019392 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695515 S 2026 1 0 "" esv1237277 4 16003920 16003970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172355 S 2 0 1 "" HuRef esv2104920 4 16035852 16036300 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755581 S 1 0 1 "" NA18507 nsv822496 4 16053337 16069957 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424129 S 31 0 1 "" NA18582 nsv4247 4 16217530 16222193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4732 S 9 1 0 LDB2 NA19129 nsv4248 4 16263029 16280759 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7929 S 9 0 1 LDB2 NA12156 nsv4249 4 16374161 16406561 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7069 S 9 1 0 LDB2 NA12156 esv2595356 4 16420641 16422146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209308 S 1 0 1 LDB2 NA18507 esv1978042 4 16421085 16421652 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560005 S 1 0 1 LDB2 NA18507 esv4963 4 16421189 16421485 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27404 S 1 0 1 Single Asian sample YH LDB2 YH nsv291652 4 16421216 16421377 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310230 M 24 LDB2 esv1009687 4 16421287 16421446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569056 S 3 0 1 LDB2 HuRef esv1074354 4 16421295 16421455 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742462 S 2 0 1 LDB2 HuRef nsv470018 4 16443737 16524343 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546283 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LDB2 HGDP00903 nsv292768 4 16508618 16508667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311346 M 24 LDB2 nsv293129 4 16508644 16508695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311707 M 24 LDB2 esv275341 4 16518166 16522864 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586169,essv2585634 M 1250 1 1 "" nsv4250 4 16545134 16561889 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10398 S 9 0 1 "" NA18956 nsv436412 4 16553205 16561453 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466080 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499032 4 16553335 16559858 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585893 S 9 0 1 "" esv1050452 4 16555351 16555660 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635680 S 2 0 1 "" HuRef nsv4251 4 16599040 16633698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv374 S 9 1 0 "" NA19240 nsv822497 4 16607678 16615753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432000 S 31 1 0 "" AK20 esv27577 4 16645203 16649203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13070 S 451 0 1 "" NA19108 nsv441860 4 16645288 16648472 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv525009 4 16650785 16653858 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701046 S 2026 0 1 "" nsv4252 4 16659216 16691787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2454 S 9 1 0 "" NA18555 esv273724 4 16759968 16760133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580588,essv2579019,essv2579633 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv267402 4 16759982 16760314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557863,essv2526066,essv2522903,essv2545471,essv2525408,essv2535385,essv2552221,essv2529336,essv2558699,essv2564633,essv2577807,essv2576501,essv2520195,essv2528296,essv2546771,essv2562609,essv2544693,essv2523923,essv2541198,essv2540595,essv2524413,essv2561173,essv2539632,essv2559856,essv2566119,essv2532851,essv2568050,essv2570230,essv2563681,essv2553491,essv2572570,essv2555373,essv2566482,essv2529953,essv2573769,essv2527607,essv2555982,essv2573609,essv2543387,essv2526965,essv2575062,essv2545070,essv2571513,essv2546035,essv2574319,essv2551584,essv2554688,essv2563124 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA10851,NA11918,NA11931,NA12003,NA12156,NA12249,NA12489,NA12749,NA12750,NA12751,NA12761,NA12814,NA12815,NA12891,NA12892,NA18507,NA18526,NA18537,NA18545,NA18552,NA18555,NA18562,NA18563,NA18570,NA18572,NA18576,NA18577,NA18593,NA18603,NA18605,NA18609,NA18943,NA18948,NA18949,NA18951,NA18952,NA18956,NA18964,NA18965,NA19005,NA19102,NA19172,NA19238,NA19239,NA19240,NA19257 esv2570672 4 16810975 16812665 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302215 S 1 0 1 "" NA18507 esv2147738 4 16811664 16812361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514101 S 1 0 1 "" NA18507 esv3224 4 16811812 16812327 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25665 S 1 0 1 Single Asian sample YH "" YH esv1001777 4 16811858 16812167 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583724 S 3 0 1 "" HuRef esv6259 4 16811861 16812169 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28700 S 1 0 1 "" SJK esv1180005 4 16811863 16812173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099285 S 2 0 1 "" HuRef esv2506808 4 16811864 16812173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392829 S 1 0 1 "" NA18507 nsv289305 4 16811864 16812173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307883 M 24 "" nsv4253 4 16851564 16859982 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7930 S 9 0 1 "" NA12156 nsv435809 4 16898462 16905009 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466081 S 2 0 1 "" NA15510 esv2605181 4 16982448 16984027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225088 S 1 0 1 "" NA18507 nsv522912 4 16988681 16994649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698571 S 2026 0 1 "" esv1574210 4 17003480 17003545 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279197 S 2 0 1 "" HuRef esv1341507 4 17024903 17024903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592883 S 2 1 0 "" HuRef nsv4255 4 17050850 17086461 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7931 S 9 0 1 "" NA12156 esv270023 4 17065449 17065860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510169,essv2511036,essv2503234,essv2496698,essv2499477,essv2495358,essv2508829,essv2500348,essv2502764,essv2512590,essv2496866,essv2511804,essv2494236,essv2509082,essv2506222,essv2498412,essv2502475,essv2493088,essv2505444,essv2500570,essv2500733,essv2505673,essv2504768,essv2499075,essv2501967 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831,NA11881,NA11894,NA12044,NA12287,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18502,NA18522,NA18523,NA18858,NA18948,NA18951,NA18952,NA18956,NA18973,NA19005,NA19099,NA19114,NA19239 esv274334 4 17065474 17065816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580288,essv2580056,essv2580971,essv2578899,essv2579591 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 nsv291198 4 17070222 17070667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309776 M 24 "" nsv292990 4 17070261 17070356 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311568 M 24 "" esv1784046 4 17070300 17070650 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334666 S 2 0 1 "" HuRef nsv293523 4 17073951 17076411 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312101 M 24 "" dgv1588e1 4 17144342 17197418 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6789,esv937 M 271 0 0 LAP3 NA18594 esv1032628 4 17152518 17152518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912521 S 2 1 0 "" HuRef esv2421810 4 17153430 17177254 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5042821,essv5094427,essv5023642,essv5125867,essv5106775,essv5142818,essv5041608,essv5155317,essv5066766,essv5123003,essv5068127,essv5117068,essv5112388 M 1184 0 13 "" NA17982,NA17996,NA17997,NA18108,NA18118,NA18534,NA18548,NA18594,NA18599,NA18745,NA19001,NA19072,NA19087 nsv289804 4 17184471 17190886 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308382 M 24 LAP3 nsv291964 4 17187971 17187971 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310542 M 24 "" esv997752 4 17253990 17259221 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563646 S 3 0 1 FAM184B HuRef nsv527339 4 17324798 17324889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703765 S 2026 0 1 FAM184B nsv878721 4 17337895 17435354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526759 S 6533 0 1 DCAF16,FAM184B,NCAPG SP57774 nsv289646 4 17350293 17352889 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308224 M 24 FAM184B esv271490 4 17368357 17368659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494192,essv2513298,essv2501732 M 157 3 0 Samples from several populations that are part of the HapMap project. FAM184B NA18502,NA18907,NA19239 esv272317 4 17368418 17368609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579326 S 7 1 0 Samples from several populations that are part of the HapMap project. FAM184B NA19239 esv2645526 4 17420754 17422248 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214305 S 1 0 1 DCAF16,NCAPG NA18507 nsv819190 4 17422505 17423019 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418976 S 2 1 0 NCAPG AK1 esv2425595 4 17438957 17440571 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368117 S 1 0 1 NCAPG NA18507 nsv819053 4 17456178 17456488 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418593 S 2 0 1 LCORL AK1 esv991821 4 17600858 17605190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564291 S 3 0 1 LCORL HuRef esv2544363 4 17609590 17611097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222054 S 1 0 1 LCORL NA18507 nsv4256 4 17675449 17709600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7932 S 9 1 0 "" NA12156 nsv4257 4 17742748 17787464 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2455 S 9 0 1 "" NA18555 nsv512823 4 17771325 17771894 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625459 S 1 1 0 "" 1 esv270352 4 17771784 17771869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516795,essv2514793 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12234 esv1674065 4 17771787 17771787 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215071 S 2 1 0 "" HuRef esv269251 4 17803412 17806072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511470,essv2508075,essv2501666,essv2512204,essv2512552,essv2511859,essv2510787,essv2504181,essv2503003,essv2509931,essv2508765,essv2511336,essv2508466,essv2507484,essv2500892,essv2505879,essv2507436,essv2511613,essv2497943,essv2502455,essv2505590,essv2504839,essv2510805,essv2509450,essv2498796,essv2497110,essv2499657,essv2511560 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11920,NA12045,NA12144,NA12155,NA18489,NA18499,NA18501,NA18505,NA18507,NA18508,NA18532,NA18570,NA18582,NA18638,NA18856,NA18861,NA18912,NA18940,NA18945,NA18948,NA19005,NA19099,NA19116,NA19129,NA19138,NA19190,NA19225 nsv523781 4 17889659 17899068 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699606 S 2026 0 1 "" esv271101 4 17998769 17998854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515179 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv2612340 4 18221905 18223725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183629 S 1 0 1 "" NA18507 nsv878722 4 18278055 18351086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523267 S 6533 0 1 "" SP53876 nsv878723 4 18278055 18615086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592956 S 6533 0 1 "" IS39325 nsv4258 4 18353211 18386380 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7933 S 9 1 0 "" NA12156 nsv292463 4 18363674 18363892 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311041 M 24 "" esv1069766 4 18363838 18364056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849277 S 2 0 1 "" HuRef esv2495619 4 18377900 18379542 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335610 S 1 0 1 "" NA18507 esv2003904 4 18378345 18379147 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578559 S 1 0 1 "" NA18507 esv267717 4 18472245 18472537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497267,essv2497179,essv2500012,essv2508601,essv2510017,essv2499245,essv2507550,essv2497368 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18552,NA18558,NA18592,NA18593,NA18605,NA18638,NA18959 nsv4259 4 18561485 18596004 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3241 S 9 1 0 "" NA12878 nsv878724 4 18595052 18724960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523177 S 6533 0 1 "" SP53732 esv2454480 4 18604234 18605728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181427 S 1 0 1 "" NA18507 nsv461282 4 18644706 18914044 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537693 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00161 nsv878725 4 18645403 18708530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591395 S 6533 1 0 "" IS38754 nsv878726 4 18647905 18914044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534010 S 6533 0 1 "" MS11389 nsv508276 4 18664082 18727631 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619934,nssv622480,nssv617487,nssv618735 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2508158 4 18666006 18667543 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260284 S 1 0 1 "" NA18507 esv2120942 4 18666419 18667222 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982137 S 1 0 1 "" NA18507 esv29790 4 18666498 18667086 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16113 S 451 7 2 "" NA07037,NA11993,NA12006,NA15510,NA18508,NA18523,NA19099,NA19147,NA19225 nsv821319 4 18666498 18667086 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420405 S 1 0 1 "" NA10851 nsv822499 4 18666498 18667086 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432001,nssv1424914 M 31 0 2 "" AK2,AK20 nsv822500 4 18666521 18667058 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435809,nssv1435023,nssv1439297,nssv1425002,nssv1433591 M 31 5 0 "" NA18526,NA18547,NA18566,NA18592,NA18942 nsv819856 4 18666551 18667145 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419019 S 2 1 0 "" AK1 nsv878727 4 18667386 18839563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584737 S 6533 0 1 "" IS37159 nsv4260 4 18675864 18730084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9639,nssv7070,nssv4733,nssv2456,nssv375 M 9 0 5 "" NA12156,NA18507,NA18555,NA19129,NA19240 esv2426521 4 18687597 18695327 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326118 S 1 0 1 "" NA18507 dgv90n16 4 18687801 18695274 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436421,nsv435783 M 2 0 2 "" NA15510,NA18505 esv1938791 4 18688368 18694862 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812440 S 1 0 1 "" NA18507 esv4890 4 18688539 18694733 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27331 S 1 0 1 Single Asian sample YH "" YH dgv123e180 4 18688548 18694663 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996954,esv992116 M 3 0 1 "" HuRef nsv499033 4 18688548 18694664 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585894 S 9 0 1 "" esv8486 4 18688557 18694655 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30927 S 1 0 1 "" SJK esv1676622 4 18688563 18694663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290761 S 2 0 1 "" HuRef dgv1589e1 4 18696618 18795920 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv905,essv4109,essv2393 M 271 0 0 "" NA18529,NA18976 dgv5486n71 4 18697484 18738813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878729,nsv878728 M 6533 0 9 "" IS37157,MS25396,SP50604,SP54853,SP55493,SP55557,SP56125,SP56319,SP56387 nsv441861 4 18697657 18733331 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818220 4 18701255 18731540 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417598,nssv1417087 M 112 0 2 "" NA18529,NA18978 nsv878730 4 18702186 18781129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541944 S 6533 0 1 "" MS15571 nsv527519 4 18705261 18769525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703973 S 2026 0 1 "" essv2154 4 18705261 18773571 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18978 esv35057 4 18709227 18733330 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979339,essv6988156 M 771 0 1 "" NA18529 nsv829869 4 18737380 18919562 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443448,nssv1443449 M 95 2 0 "" nsv292215 4 18739705 18739779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310793 M 24 "" nsv291045 4 18739730 18739779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309623 M 24 "" nsv878731 4 18769525 18880351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591396 S 6533 1 0 "" IS38754 nsv878732 4 18781129 19270045 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526521 S 6533 0 1 "" SP57610 nsv4261 4 18803811 18848942 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7934 S 9 0 1 "" NA12156 esv270882 4 18831150 18831332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507753,essv2505037,essv2512737,essv2508610,essv2503715 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12751,NA12828,NA18577,NA18592,NA18960 nsv293485 4 18837140 18837313 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312063 M 24 "" nsv4262 4 18849534 18893760 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2457 S 9 0 1 "" NA18555 nsv829872 4 18877380 19041970 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443450,nssv1443452 M 95 0 2 "" esv269150 4 18913293 18913515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511814,essv2496475,essv2498357,essv2494550,essv2507837,essv2500680,essv2494453,essv2507672,essv2508208,essv2508459,essv2496076,essv2498621,essv2505969,essv2513294,essv2507408,essv2512392,essv2493093,essv2497435,essv2498743 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18510,NA18526,NA18550,NA18564,NA18571,NA18572,NA18576,NA18579,NA18582,NA18603,NA18858,NA18861,NA18907,NA18912,NA18949,NA18951,NA18959,NA19138 nsv525057 4 18915809 18919450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701106 S 2026 0 1 "" nsv878733 4 18944562 19537700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534398 S 6533 0 1 "" MS11565 esv270823 4 18975219 18975558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516674,essv2518525,essv2516410,essv2515640,essv2518108,essv2515956,essv2517281 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12287,NA12814,NA12815,NA12872,NA12873,NA18970 esv2367682 4 18984982 18985495 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954804 S 1 0 1 "" NA18507 nsv878734 4 19083778 19207808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579398 S 6533 0 1 "" IS35100 esv1104771 4 19130736 19130788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049556 S 2 0 1 "" HuRef nsv829873 4 19191361 19351613 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443453 S 95 1 0 "" nsv518929 4 19225747 19238407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696395 S 2026 0 1 "" nsv523420 4 19238151 19238407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699173 S 2026 0 1 "" nsv829874 4 19244311 19390200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443454 S 95 0 1 "" esv2015031 4 19252024 19252749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996669 S 1 0 1 "" NA18507 esv2618070 4 19252159 19253621 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250726 S 1 0 1 "" NA18507 esv1706464 4 19252223 19252564 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903391 S 2 0 1 "" HuRef nsv290637 4 19252224 19252564 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309215 M 24 "" nsv510917 4 19354480 19538506 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621571 S 4 0 0 "" NA15510 esv2752044 4 19397361 19735902 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984038,essv6984039,essv6989902 M 771 0 1 "" BEC_758 nsv878735 4 19419976 19542167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556387 S 6533 1 0 "" MS21973 esv28581 4 19467486 19473467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13594 S 451 0 1 "" NA15510 esv269374 4 19705545 19705855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509907,essv2493759,essv2509097,essv2506236 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18517,NA18522,NA18523 esv6107 4 19746362 19746423 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28548 S 1 1 0 "" SJK esv29031 4 19767303 19771515 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16409 S 451 0 1 "" NA18916 nsv822501 4 19804731 19805670 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421640,nssv1438757 M 31 0 2 "" NA18973,NA18997 nsv878736 4 19842133 19888956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600445 S 6533 0 1 SLIT2 IS41887 nsv878737 4 19842133 19891432 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558119,nssv1579104 M 6533 1 1 SLIT2 IS35018,MS23120 esv273588 4 19855459 19855544 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581320 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv5487n71 4 19864404 19917020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878738,nsv878739 M 6533 0 2 SLIT2 IS40067,MS22104 nsv461287 4 19870884 19901337 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537696 S 1557 0 1 SLIT2 1780862042_A nsv878740 4 19901337 19942820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553497 S 6533 1 0 SLIT2 MS20062 esv1004503 4 20009072 20019042 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564976 S 3 0 1 SLIT2 HuRef esv2863 4 20016608 20017707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25304 S 1 0 1 Single Asian sample YH SLIT2 YH esv25235 4 20016666 20017955 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10699 S 451 0 8 SLIT2 NA06985,NA11931,NA11995,NA12156,NA12414,NA12749,NA12776,NA12828 nsv821168 4 20016666 20017955 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420406 S 1 0 1 SLIT2 NA10851 nsv878741 4 20049574 20095328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552823 S 6533 0 1 SLIT2 MS19634 nsv527095 4 20056138 20065053 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703474 S 2026 1 0 SLIT2 nsv878742 4 20082897 20136962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592541 S 6533 0 1 SLIT2 IS39243 nsv822502 4 20083171 20084012 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425792 S 31 1 0 SLIT2 NA18947 nsv829875 4 20111993 20290054 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443460,nssv1443479,nssv1443458,nssv1443457,nssv1443456,nssv1443461,nssv1443468,nssv1443464,nssv1443463,nssv1443459,nssv1443467,nssv1443465,nssv1443466,nssv1443478,nssv1443472,nssv1443470,nssv1443476,nssv1443475,nssv1443474,nssv1443477,nssv1443471,nssv1443483,nssv1443480,nssv1443455,nssv1443482,nssv1443481,nssv1443469 M 95 9 18 MIR218-1,SLIT2 esv269617 4 20128187 20128513 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520906,essv2552362,essv2558881,essv2538862,essv2527957,essv2529583,essv2538763,essv2572771 M 157 8 0 Samples from several populations that are part of the HapMap project. SLIT2 NA18498,NA18502,NA18516,NA18519,NA18907,NA19093,NA19108,NA19143 esv2487197 4 20136808 20138299 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193390 S 1 0 1 SLIT2 NA18507 nsv292967 4 20145431 20145431 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311545 M 24 SLIT2 nsv516999 4 20158074 20174959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657103,nssv680521,nssv653193,nssv658193,nssv675267,nssv674911,nssv665807,nssv680751,nssv655949,nssv669390,nssv675568,nssv653061,nssv686845,nssv653579,nssv671302,nssv679807,nssv664167,nssv658769,nssv678898,nssv658262 M 2026 0 20 SLIT2 nsv442896 4 20165809 20173040 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLIT2 esv2421650 4 20165809 20174959 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142966,essv5102627,essv5074215,essv5074985,essv5078981,essv5059779,essv5100358,essv5090184,essv5157535,essv5146294,essv5042099,essv5085034,essv5105548,essv5106688,essv5107389,essv5104547,essv5086686,essv5026093,essv5042078,essv5049610,essv5054390,essv5034900,essv5041728,essv5140857,essv5144998,essv5048885 M 1184 0 26 SLIT2 NA12760,NA18484,NA18485,NA18486,NA18489,NA18871,NA18872,NA18873,NA18875,NA19117,NA19152,NA19159,NA19160,NA19161,NA19174,NA19223,NA19445,NA19670,NA19901,NA20796,NA21336,NA21527,NA21583,NA21611,NA21722,NA21826 nsv818221 4 20166557 20174959 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416721,nssv1416719,nssv1416720 M 112 0 3 SLIT2 NA19159,NA19160,NA19161 nsv514200 4 20167126 20172988 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627638 S 1414 0 1 SLIT2 nsv437913 4 20171178 20172206 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468222 S 269 0 1 Samples from several populations that are part of the HapMap project. SLIT2 NA19161 nsv4263 4 20201283 20236608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv376 S 9 1 0 SLIT2 NA19240 nsv829876 4 20247834 20444719 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443485 S 95 1 0 KCNIP4,PACRGL nsv829877 4 20456563 20601642 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443486 S 95 1 0 KCNIP4 nsv878743 4 20497534 20535917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554098,nssv1579105 M 6533 0 2 KCNIP4 IS35018,MS20616 nsv878744 4 20505416 20561053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583809 S 6533 1 0 KCNIP4 IS36656 esv2366017 4 20542517 20542925 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745230 S 1 0 1 KCNIP4 NA18507 esv1583394 4 20542640 20542739 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049742 S 2 0 1 KCNIP4 HuRef nsv829878 4 20575145 20747724 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443487 S 95 0 1 KCNIP4 dgv5488n71 4 20663446 20778160 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878745,nsv878747,nsv878746 M 6533 3 0 KCNIP4 SP52680,SP55394,SP81109 esv27161 4 20690178 20695655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17854 S 451 0 1 KCNIP4 NA19190 nsv522328 4 20692651 20705925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695109 S 2026 0 1 KCNIP4 nsv878748 4 20722969 20778160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499899 S 6533 1 0 KCNIP4 SP50038 nsv525552 4 20724614 20726432 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701690 S 2026 1 0 KCNIP4 esv27956 4 20727810 20728349 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21089 S 451 3 0 KCNIP4 NA12749,NA18907,NA18909 esv21503 4 20746483 20751583 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19479,esv9936 M 451 0 8 KCNIP4 NA11931,NA12749,NA18502,NA18505,NA18517,NA18858,NA18909,NA19240 nsv4264 4 20747229 20808360 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4734,nssv7071,nssv9389,nssv3242 M 9 0 4 KCNIP4 NA12156,NA12878,NA18517,NA19129 esv1005654 4 20768770 20776198 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565446 S 3 0 1 KCNIP4 HuRef nsv513123 4 20769412 20776226 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626615 S 1 0 1 KCNIP4 1 esv2637742 4 20769506 20776969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393971 S 1 0 1 KCNIP4 NA18507 dgv91n16 4 20769760 20776377 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435801,nsv436408 M 2 0 2 KCNIP4 NA15510,NA18505 esv2318387 4 20769900 20776415 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893801 S 1 0 1 KCNIP4 NA18507 esv4912 4 20770071 20776517 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27353 S 1 0 1 Single Asian sample YH KCNIP4 YH dgv43n47 4 20770084 20776212 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499035,nsv499034 M 9 0 2 KCNIP4 nsv293542 4 20770101 20776211 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312120 M 24 KCNIP4 dgv1590e1 4 20781563 20790093 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1059,essv14029 M 271 0 0 KCNIP4 NA18862 esv2211934 4 20788996 20789556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717452 S 1 0 1 KCNIP4 NA18507 nsv471806 4 20789172 20789395 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646087 M 0.085 95 KCNIP4 esv2564210 4 20795612 20796633 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349413 S 1 1 0 KCNIP4 NA18507 esv269351 4 20796010 20796243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562598,essv2536820,essv2539119,essv2526360,essv2524170,essv2530232,essv2568726 M 157 7 0 Samples from several populations that are part of the HapMap project. KCNIP4 NA18507,NA18517,NA18519,NA19114,NA19129,NA19141,NA19147 nsv878749 4 20798968 20845981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537883 S 6533 1 0 KCNIP4 MS13401 nsv292176 4 20874899 20874899 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310754 M 24 KCNIP4 esv29681 4 20882460 20884304 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13217 S 451 0 1 KCNIP4 NA07037 nsv437914 4 20901311 20984915 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468227,nssv468232,nssv468240,nssv468234,nssv468224,nssv468223,nssv468228,nssv468229,nssv468233,nssv468231,nssv468225,nssv468235,nssv468244,nssv468226,nssv468239,nssv468243,nssv468237,nssv468238,nssv468236,nssv468242 M 269 0 19 Samples from several populations that are part of the HapMap project. KCNIP4 NA18506,NA18508,NA18854,NA18855,NA18913,NA19092,NA19094,NA19103,NA19119,NA19143,NA19144,NA19145,NA19159,NA19192,NA19201,NA19205,NA19210,NA19222,NA19238 nsv521126 4 20944461 20960568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683472,nssv683932,nssv682662 M 2026 0 3 KCNIP4 nsv4266 4 20957102 20991457 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3125 S 9 1 0 KCNIP4 NA18555 nsv4267 4 20973925 20990730 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv377,nssv10399 M 9 0 2 KCNIP4 NA18956,NA19240 esv2649624 4 20977296 20986626 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380183 S 1 0 1 KCNIP4 NA18507 esv2421536 4 20977437 20985949 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5014786,essv5080603,essv5091663,essv5023445,essv5149976,essv5109799,essv5112309,essv5021515,essv5095670,essv5048025,essv5031612,essv5132254,essv5117146,essv5059329,essv5006772,essv5018525,essv5100102,essv5047817,essv5076563,essv5083665,essv5018228,essv5114343,essv5153312,essv5093708,essv5031026,essv5056760,essv5132947,essv5117156,essv5107624,essv5074626,essv5014686,essv5088109,essv5062636,essv5078786,essv5056604,essv5074055,essv5081547,essv5095243,essv5042497,essv5141112,essv5101913,essv5005586,essv5152056,essv5082991,essv5035158,essv5105541,essv5076204,essv5083068,essv5026703,essv5094013,essv5135221,essv5039975,essv5054596,essv5116792,essv5113680,essv5081833,essv5122406,essv5016097,essv5006244,essv5151816,essv5020312,essv5006602,essv5058100,essv5138326,essv5099468,essv5036625,essv5087917,essv5157316,essv5078258,essv5037754,essv5010748,essv5081559,essv5063515,essv5063840,essv5017654,essv5064292,essv5036422,essv5015524,essv5007961,essv5131455,essv5028142,essv5076335,essv5088467,essv5080057,essv5013428,essv5079553,essv5096020,essv5031883,essv5135775,essv5145556,essv5159217,essv5119854,essv5121551,essv5096901,essv5130109,essv5050583,essv5091839,essv5011725,essv5133839,essv5081396,essv5008954,essv5063821,essv5092229,essv5083003,essv5048584,essv5053932,essv5016035,essv5110951,essv5144217,essv5054755,essv5101857,essv5026476,essv5029731,essv5129547,essv5042667,essv5129513,essv5158549,essv5134305,essv5111898,essv5017932,essv5099781,essv5059309,essv5106441,essv5002022,essv5156620,essv5067311,essv5145574,essv5123226,essv5127560,essv5089072,essv5064891,essv5114209,essv5020451,essv5021130,essv5090332,essv5093949,essv5141880,essv5067423,essv5133968,essv5160960,essv5043373,essv5094572,essv5007332,essv5024498,essv5013676,essv5006087,essv5073687,essv5055851,essv5123240,essv5096938,essv5085463,essv5062321,essv5015551,essv5061713,essv5132435,essv5022258,essv5080423,essv5087920,essv5033276,essv5026324,essv5135770,essv5106947,essv5117595,essv5114199,essv5099124,essv5034515,essv5065203,essv5061647,essv5037443,essv5094642,essv5089077,essv5084868,essv5072938,essv5099743,essv5146128,essv5130696,essv5053597,essv5124096,essv5009911,essv5002301,essv5128096,essv5007880,essv5092062,essv5065410,essv5113210,essv5007451,essv5116778,essv5016812,essv5086172,essv5138992,essv5156378,essv5099630,essv5134095,essv5064099,essv5103196,essv5121046,essv5158043,essv5067656,essv5045799,essv5135671,essv5078947,essv5022162,essv5160420,essv5135560,essv5067508,essv5094522,essv5003589,essv5066099,essv5158780,essv5090768,essv5062535,essv5033327,essv5132209,essv5155290,essv5102059,essv5153527,essv5047329,essv5101962,essv5119047,essv5154290,essv5057168,essv5059945,essv5033282,essv5058545,essv5154154,essv5145131,essv5131986,essv5145911,essv5160928,essv5147687,essv5114028,essv5069856,essv5158098,essv5153152,essv5030967,essv5041512,essv5113928,essv5004630,essv5011489,essv5116063,essv5007422,essv5090273,essv5098225,essv5012051,essv5141606,essv5120792,essv5108004,essv5052529,essv5005499,essv5102952,essv5122898,essv5007129,essv5060804,essv5155760,essv5113594,essv5009731,essv5070566,essv5153629,essv5089558,essv5156799,essv5097875,essv5071292,essv5076925,essv5116371,essv5147008,essv5152187,essv5114748,essv5034769,essv5091274,essv5019152,essv5010499,essv5090240,essv5008232,essv5029896,essv5021520,essv5045760,essv5030028,essv5066811,essv5005228,essv5083230,essv5153401,essv5067483,essv5106162,essv5150462,essv5080404,essv5136151,essv5087602,essv5143044,essv5130678,essv5073610,essv5097789,essv5079247,essv5088658,essv5039509,essv5096385,essv5095957,essv5121204,essv5080953,essv5107803,essv5097504,essv5080400,essv5145151,essv5055422 M 1184 0 303 KCNIP4 NA17969,NA17977,NA17989,NA17990,NA18101,NA18107,NA18124,NA18131,NA18135,NA18136,NA18146,NA18147,NA18150,NA18156,NA18160,NA18486,NA18489,NA18500,NA18501,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18520,NA18536,NA18543,NA18561,NA18573,NA18582,NA18593,NA18618,NA18621,NA18634,NA18638,NA18641,NA18647,NA18670,NA18704,NA18740,NA18748,NA18749,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18867,NA18868,NA18869,NA18871,NA18872,NA18910,NA18911,NA18912,NA18913,NA18914,NA18917,NA18923,NA18925,NA18930,NA18934,NA18935,NA18948,NA18955,NA18956,NA18963,NA18970,NA18975,NA18978,NA18995,NA18998,NA19000,NA19001,NA19007,NA19027,NA19028,NA19031,NA19036,NA19038,NA19063,NA19075,NA19077,NA19080,NA19087,NA19093,NA19094,NA19095,NA19098,NA19099,NA19101,NA19102,NA19103,NA19108,NA19109,NA19113,NA19119,NA19120,NA19127,NA19130,NA19132,NA19140,NA19143,NA19144,NA19149,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19175,NA19184,NA19185,NA19186,NA19190,NA19192,NA19194,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19211,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19237,NA19238,NA19240,NA19256,NA19258,NA19309,NA19310,NA19315,NA19316,NA19318,NA19321,NA19324,NA19327,NA19332,NA19347,NA19350,NA19352,NA19360,NA19372,NA19373,NA19374,NA19379,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19396,NA19398,NA19430,NA19431,NA19434,NA19436,NA19439,NA19440,NA19444,NA19445,NA19446,NA19451,NA19452,NA19455,NA19462,NA19463,NA19466,NA19467,NA19469,NA19472,NA19474,NA19625,NA19663,NA19665,NA19700,NA19702,NA19708,NA19714,NA19723,NA19783,NA19784,NA19818,NA19835,NA19836,NA19904,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA20129,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20289,NA20290,NA20291,NA20292,NA20294,NA20300,NA20301,NA20302,NA20322,NA20332,NA20333,NA20340,NA20341,NA20349,NA20356,NA20358,NA20845,NA20853,NA20874,NA20890,NA20899,NA21086,NA21295,NA21300,NA21301,NA21302,NA21308,NA21313,NA21336,NA21344,NA21352,NA21357,NA21362,NA21363,NA21365,NA21378,NA21381,NA21383,NA21384,NA21386,NA21388,NA21389,NA21391,NA21400,NA21408,NA21414,NA21417,NA21418,NA21420,NA21421,NA21436,NA21438,NA21448,NA21457,NA21473,NA21475,NA21479,NA21480,NA21485,NA21486,NA21488,NA21489,NA21490,NA21491,NA21512,NA21514,NA21517,NA21519,NA21521,NA21524,NA21525,NA21529,NA21573,NA21574,NA21575,NA21576,NA21578,NA21611,NA21631,NA21634,NA21683,NA21685,NA21689,NA21717,NA21733,NA21739,NA21741,NA21825,NA21826 esv2516407 4 20977977 20987009 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368750 S 1 0 1 KCNIP4 NA18507 esv1947625 4 20978013 20986176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4779020 S 1 0 1 KCNIP4 NA18507 nsv10462 4 20978060 20986779 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13920,nssv12957,nssv11968,nssv13123,nssv12174,nssv12972,nssv11906,nssv12271,nssv11930 M 31 0 9 Samples from several populations that are part of the HapMap project. KCNIP4 NA18502,NA18504,NA18853,NA18975,NA19007,NA19132,NA19144,NA19221,NA19240 nsv436413 4 20978178 20986741 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466087 S 2 0 1 Samples from several populations that are part of the HapMap project. KCNIP4 NA18505 nsv499036 4 20978190 20986006 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585897 S 9 0 1 KCNIP4 esv28635 4 20978191 20986188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9739 S 451 0 10 KCNIP4 NA18502,NA18505,NA18508,NA18523,NA18858,NA19099,NA19108,NA19190,NA19225,NA19240 esv5703 4 20978192 20986033 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28144 S 1 0 1 KCNIP4 SJK nsv822503 4 20978200 20986154 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439308,nssv1424131,nssv1424915 M 31 0 3 KCNIP4 AK2,NA18547,NA18582 nsv514201 4 20978244 20986012 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627639 S 1414 0 1 KCNIP4 nsv442897 4 20981137 20985949 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KCNIP4 nsv829879 4 21027666 21220100 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443488 S 95 1 0 KCNIP4 esv24993 4 21057650 21076477 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18843,esv15232 M 451 0 8 KCNIP4 NA12287,NA18523,NA18861,NA18916,NA19108,NA19129,NA19225,NA19240 nsv518367 4 21057878 21070219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695793 S 2026 0 1 KCNIP4 nsv511253 4 21064975 21070219 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624711 S 1 0 1 KCNIP4 1 nsv513124 4 21066058 21067551 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626616 S 1 0 1 KCNIP4 1 dgv865n67 4 21066464 21067491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822504,nsv822505 M 31 0 2 KCNIP4 AK16,NA18566 nsv820351 4 21066464 21067509 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420407 S 1 0 1 KCNIP4 NA10851 nsv527163 4 21099459 21104079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703557 S 2026 0 1 KCNIP4 nsv829880 4 21101524 21302914 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443489 S 95 1 0 KCNIP4 nsv878750 4 21101543 21129348 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559910 S 6533 0 1 KCNIP4 MS24213 nsv527678 4 21103792 21104079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704153 S 2026 0 1 KCNIP4 nsv525271 4 21128675 21184721 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701372 S 2026 0 1 KCNIP4 nsv470019 4 21128675 21185852 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546285,nssv546284 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNIP4 HGDP01411,HGDP01413 esv1765764 4 21130256 21130318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310046 S 2 0 1 KCNIP4 HuRef nsv291793 4 21130453 21130503 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310371 M 24 KCNIP4 esv268358 4 21143633 21143987 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495906,essv2503819,essv2509903,essv2493778,essv2498373,essv2499923,essv2506402,essv2512748,essv2501588,essv2505196,essv2502371,essv2506701,essv2498863,essv2493896 M 157 14 0 Samples from several populations that are part of the HapMap project. KCNIP4 NA12489,NA12761,NA18508,NA18517,NA18526,NA18562,NA18566,NA18577,NA18608,NA18853,NA18948,NA19108,NA19138,NA19210 nsv461288 4 21171111 21184721 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537697 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNIP4 HGDP01411 nsv4268 4 21185704 21208758 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3243 S 9 1 0 KCNIP4 NA12878 nsv461289 4 21197396 21248614 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537698 S 1557 1 0 KCNIP4 NINDS_130 esv2515465 4 21303428 21304893 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294727 S 1 0 1 KCNIP4 NA18507 esv2313193 4 21303644 21304133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888808 S 1 0 1 KCNIP4 NA18507 esv3036 4 21303719 21304042 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25477 S 1 0 1 Single Asian sample YH KCNIP4 YH nsv878751 4 21321148 21402905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517916 S 6533 0 1 KCNIP4 SP57408 esv2497076 4 21324954 21326519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248655 S 1 0 1 KCNIP4 NA18507 esv2061559 4 21367753 21368133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651458 S 1 0 1 KCNIP4 NA18507 dgv137n6 4 21367821 21367932 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289639,nsv292343 M 24 KCNIP4 nsv292113 4 21367891 21367982 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310691 M 24 KCNIP4 nsv4269 4 21370527 21415154 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7936 S 9 0 1 KCNIP4 NA12156 esv25397 4 21391108 21391733 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13414 S 451 1 0 KCNIP4 NA18505 nsv507153 4 21424912 21430912 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622882,nssv620237 M 4 2 0 KCNIP4 NA15510,NA18994 nsv291226 4 21442407 21448253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309804 M 24 KCNIP4 dgv1591e1 4 21482302 21589657 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv230,essv16311 M 271 0 0 KCNIP4 NA19193 nsv428440 4 21482302 21589657 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454419 S 62 1 0 KCNIP4 HGDP00449 esv987707 4 21509699 21517149 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564284 S 3 0 1 KCNIP4 HuRef esv270118 4 21531563 21531676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496560,essv2507233,essv2497655 M 157 3 0 Samples from several populations that are part of the HapMap project. KCNIP4 NA18510,NA18870,NA19147 nsv10463 4 21550724 21553256 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12243,nssv12301 M 31 0 2 Samples from several populations that are part of the HapMap project. KCNIP4 NA07048,NA19240 nsv4270 4 21555560 21562100 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3244 S 9 1 0 KCNIP4 NA12878 esv267908 4 21573713 21574006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517035 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 dgv1592e1 4 21620679 21839816 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7861,esv621,essv20400,essv22585,essv13422,essv6217,essv23044,essv7707,essv10836,essv15644,essv5482,essv24129,essv12649,essv23582 M 271 0 0 "" NA07348,NA10830,NA10847,NA12006,NA12812,NA18500,NA18558,NA18632,NA18633,NA18636,NA18871,NA18912,NA19192 essv21622 4 21626265 21700080 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07348 nsv435775 4 21635483 21641829 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466088 S 2 0 1 "" NA15510 esv267867 4 21652282 21652615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536451,essv2544117,essv2545450,essv2576646,essv2535199,essv2554245,essv2559746,essv2565532,essv2520096,essv2537715,essv2546995,essv2551783,essv2532231,essv2558806,essv2561630,essv2542679,essv2559987,essv2541608,essv2569965,essv2553240,essv2535732,essv2555533,essv2567213,essv2566496,essv2530150,essv2527500,essv2555950,essv2522350,essv2560769,essv2560864,essv2560202,essv2551322,essv2538147,essv2554391,essv2547797,essv2524770 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA07357,NA11920,NA11992,NA12003,NA12154,NA12249,NA12287,NA12776,NA12812,NA12815,NA12878,NA12892,NA18504,NA18505,NA18516,NA18523,NA18550,NA18570,NA18592,NA18593,NA18605,NA18608,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18960,NA19116,NA19137,NA19190,NA19257 esv273954 4 21652282 21652617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581717,essv2583156 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv10464 4 21656124 21664062 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12273 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv441862 4 21657731 21679799 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv20738 4 21658768 21695292 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07357 nsv818224 4 21661042 21678477 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417984,nssv1417985 M 112 0 2 "" NA07348,NA07357 nsv517719 4 21661042 21682866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674644,nssv685341,nssv665083,nssv686606,nssv682039,nssv674880,nssv677496,nssv652969,nssv674461,nssv674130,nssv666373,nssv692361,nssv674615,nssv672474,nssv675007,nssv692334,nssv658179,nssv667851,nssv655431,nssv676829,nssv668996 M 2026 0 21 "" nsv514202 4 21661584 21679640 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627640 S 1414 0 1 "" nsv829881 4 21693802 21863777 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443490 S 95 0 1 "" nsv4271 4 21892093 21935430 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3245,nssv7937 M 9 2 0 "" NA12156,NA12878 esv269931 4 21895888 21896217 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495278,essv2499388,essv2494756,essv2497319,essv2513025 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11992,NA11994,NA18519,NA18545 nsv510889 4 21954454 22032367 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621572 S 4 0 0 GPR125 NA15510 esv8598 4 21966990 21967043 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31039 S 1 1 0 "" SJK nsv507154 4 21980451 21986451 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617627 S 4 1 0 "" CHM nsv509881 4 22020474 22026474 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618597,nssv622048,nssv623934 M 4 0 3 GPR125 CHM,NA10860,NA18994 nsv878752 4 22023121 22110141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556249 S 6533 0 1 GPR125 MS21868 nsv821634 4 22036172 22475046 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421358 S 31 0 1 GBA3,GPR125 esv1778171 4 22041989 22042050 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592013 S 2 0 1 GPR125 HuRef esv5125 4 22111081 22111363 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27566 S 1 0 1 Single Asian sample YH GPR125 YH nsv289612 4 22111164 22111261 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308190 M 24 GPR125 esv274300 4 22124942 22125144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578902,essv2579640 M 7 2 0 Samples from several populations that are part of the HapMap project. GPR125 NA19239,NA19240 esv268197 4 22167927 22168179 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510215,essv2496680,essv2511203,essv2504465,essv2499420,essv2495388,essv2495898,essv2496823,essv2496497,essv2496166,essv2506286,essv2505776,essv2507178,essv2503117,essv2503521,essv2493137,essv2500580,essv2501224,essv2506645,essv2499692,essv2502131,essv2504349 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10851,NA11894,NA11931,NA11993,NA12044,NA12287,NA12489,NA18498,NA18510,NA18511,NA18523,NA18861,NA18870,NA18943,NA18947,NA18951,NA18956,NA19093,NA19108,NA19225,NA19257 nsv10465 4 22271779 22276778 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11960,nssv13950 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19221 esv21475 4 22272265 22275280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17363 S 451 0 3 "" NA18909,NA19147,NA19190 nsv520260 4 22273865 22275153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690410,nssv687595,nssv662209,nssv686646 M 2026 0 4 "" nsv829883 4 22275424 22451615 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443494,nssv1443493,nssv1443498,nssv1443497,nssv1443496,nssv1443492,nssv1443491 M 95 0 7 GBA3 nsv4272 4 22362785 22395913 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv378 S 9 1 0 GBA3 NA19240 nsv520813 4 22392812 22433119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698823,nssv683091,nssv675706 M 2026 0 3 GBA3 esv2558861 4 22455885 22457442 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251430 S 1 0 1 "" NA18507 nsv829884 4 22474811 22640333 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443499,nssv1443500,nssv1443501 M 95 0 3 "" nsv522138 4 22488002 22611112 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694912 S 2026 1 0 "" esv23706 4 22531220 22532837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13456 S 451 0 1 "" NA19099 dgv5489n71 4 22599855 22755985 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878755,nsv878754,nsv878753 M 6533 0 3 "" IS37226,SP50522,SP51486 nsv829885 4 22660327 22705595 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443502 S 95 0 1 "" nsv292599 4 22709744 22709803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311177 M 24 "" esv2440645 4 22737663 22741034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382179 S 1 0 1 "" NA18507 nsv289468 4 22738714 22740916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308046 M 24 "" nsv507155 4 22837116 22843116 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622883,nssv620238,nssv621740 M 4 3 0 "" NA10860,NA15510,NA18994 nsv293499 4 22878465 22882170 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312077 M 24 "" dgv1593e1 4 22884264 22923310 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8393,esv1039 M 271 0 0 "" NA19093 nsv442898 4 22884297 22889218 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv878756 4 22995681 23166743 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570139 S 6533 1 0 "" IS31812 essv745 4 23056764 23088838 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19003 dgv1594e1 4 23056764 23098910 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2936,esv1368 M 271 0 0 "" NA19007 nsv829886 4 23061849 23241044 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443503 S 95 0 1 "" esv269961 4 23090089 23090220 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494713,essv2506654,essv2498734,essv2502180 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA19108,NA19138,NA19257 nsv878757 4 23119774 23262314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586780 S 6533 0 1 "" IS37976 esv274494 4 23120088 23120420 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584239,essv2583647 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269671 4 23120088 23120430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523019,essv2543826,essv2577967,essv2559750,essv2530518,essv2520760,essv2557388,essv2556892,essv2552370,essv2551840,essv2532306,essv2578766,essv2558757,essv2537069,essv2527090,essv2544943,essv2562853,essv2534564,essv2561160,essv2539814,essv2567771,essv2570225,essv2563934,essv2535680,essv2572309,essv2559321,essv2566774,essv2551108,essv2543680,essv2556439,essv2528035,essv2539249,essv2555319,essv2555636,essv2527731,essv2556034,essv2573444,essv2543363,essv2577106,essv2575191,essv2538579,essv2560754,essv2560845,essv2530335,essv2572766,essv2568534,essv2571544,essv2574392,essv2557800 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA11992,NA12761,NA12776,NA18486,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18510,NA18516,NA18517,NA18522,NA18526,NA18532,NA18561,NA18562,NA18563,NA18577,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18907,NA18912,NA18943,NA18945,NA18952,NA18956,NA18964,NA18965,NA18970,NA19102,NA19108,NA19116,NA19137,NA19141,NA19143,NA19147,NA19238,NA19240 nsv878758 4 23197094 23311656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556301 S 6533 0 1 "" MS21905 esv23605 4 23199480 23214596 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19722,esv10283 M 451 2 0 "" NA18505,NA19240 nsv878759 4 23205692 23239351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535553 S 6533 0 1 "" MS12266 nsv4273 4 23245249 23279616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3246 S 9 1 0 "" NA12878 nsv517733 4 23247197 23339985 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677877,nssv682000,nssv653039,nssv656983 M 2026 4 0 "" nsv461291 4 23262314 23321928 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537699 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00943 esv3923 4 23330718 23331177 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26364 S 1 0 1 Single Asian sample YH "" YH dgv138n6 4 23330763 23331102 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291163,nsv292232 M 24 "" esv9536 4 23384508 23384575 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31977 S 1 1 0 "" SJK nsv290453 4 23455595 23455595 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309031 M 24 PPARGC1A esv269130 4 23481869 23481993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494363,essv2504288 M 157 2 0 Samples from several populations that are part of the HapMap project. PPARGC1A NA18502,NA18505 nsv822506 4 23520102 23520946 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427433,nssv1422539,nssv1429736,nssv1441006,nssv1438758,nssv1433592 M 31 0 6 "" AK14,AK8,NA18526,NA18552,NA18969,NA18973 esv1008871 4 23620678 23621411 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587162 S 3 0 1 "" HuRef nsv528101 4 23672395 23676244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704641 S 2026 0 1 "" nsv4274 4 23729504 23762844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2458 S 9 1 0 "" NA18555 esv273951 4 23739364 23739699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584705,essv2583298 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv4275 4 23784618 23794386 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7938 S 9 0 1 "" NA12156 nsv289370 4 23811248 23811376 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307948 M 24 "" esv27685 4 23903318 23904408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12079 S 451 0 1 "" NA18907 nsv878760 4 23933359 23982144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588465 S 6533 0 1 "" IS38207 nsv435811 4 23977274 23984858 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466089 S 2 0 1 "" NA15510 esv9675 4 24049890 24049950 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32116 S 1 1 0 "" SJK nsv289788 4 24184779 24184926 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308366 M 24 DHX15 nsv525569 4 24255870 24305581 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701708 S 2026 1 0 "" nsv829887 4 24382643 24611186 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443504,nssv1443505 M 95 1 1 CCDC149,LGI2,SOD3 esv1055841 4 24384263 24384263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149042 S 2 1 0 "" HuRef nsv829888 4 24488123 24680196 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443507 S 95 1 0 CCDC149,LGI2 esv2499911 4 24575241 24576849 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258286 S 1 0 1 CCDC149 NA18507 esv2023485 4 24575373 24576426 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939271 S 1 0 1 CCDC149 NA18507 esv3412 4 24575507 24576330 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25853 S 1 0 1 Single Asian sample YH CCDC149 YH esv27291 4 24575561 24576199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15888 S 451 0 1 CCDC149 NA19225 nsv819375 4 24734413 24735810 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419254 S 2 0 1 SEPSECS AK1 nsv4277 4 24738418 24783450 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7939 S 9 0 1 LOC285540,SEPSECS NA12156 nsv518834 4 24872576 24903317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696286 S 2026 0 1 PI4K2B nsv524925 4 24888086 24905102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700938 S 2026 0 1 PI4K2B nsv509000 4 25025150 25159128 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620786,nssv623410 M 4 2 0 ANAPC4 NA15510,NA18994 nsv878761 4 25035003 25480199 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549233 S 6533 1 0 SEL1L3,SLC34A2 MS18143 esv2582800 4 25079670 25082450 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331919 S 1 0 1 "" NA18507 esv2303059 4 25080070 25081893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846254 S 1 0 1 "" NA18507 esv2324878 4 25106060 25106720 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877617 S 1 0 1 "" NA18507 esv4324 4 25106210 25106634 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26765 S 1 0 1 Single Asian sample YH "" YH esv1139530 4 25106263 25106576 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829198 S 2 0 1 "" HuRef esv1740746 4 25106712 25106712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110142 S 2 1 0 "" HuRef nsv10466 4 25110477 25115836 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12861 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv441863 4 25111151 25117108 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1595e1 4 25111155 25116956 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16585,esv1298 M 271 0 0 "" NA18860 esv259914 4 25119481 25120195 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394720,essv2397678,essv2398570,essv2397451,essv2399314,essv2400115,essv2394845,essv2396429 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18516,NA18520,NA18522,NA18861,NA19114,NA19138 esv275162 4 25142652 25146029 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585867,essv2585739 M 1250 1 1 "" dgv5490n71 4 25152250 25192329 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878763,nsv878762 M 6533 14 0 "" IS30669,IS33514,IS35803,IS38378,IS38430,IS39353,IS39369,IS40702,IS41043,IS41305,IS41754,IS41956,MS11307,MS16416 nsv517048 4 25163430 25192329 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670403,nssv664880,nssv673930,nssv656102,nssv668997,nssv676616,nssv653003,nssv692411,nssv685272,nssv680823,nssv669890,nssv674058,nssv653687,nssv689543,nssv651871,nssv669906,nssv663156,nssv693040,nssv668055,nssv686406 M 2026 20 0 "" dgv649n27 4 25163609 25187611 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461304,nsv461308,nsv461292,nsv461303,nsv461301,nsv461293,nsv461294,nsv461299,nsv461310,nsv461302,nsv461296,nsv461300,nsv461309,nsv461297,nsv461305,nsv461298,nsv461307 M 1557 17 0 "" 1780854518_A,1780862575_A,1780862577_A,1782681110_A,HGDP00011,HGDP00023,HGDP00035,HGDP00125,HGDP00144,HGDP00154,HGDP00205,HGDP00226,HGDP00602,HGDP00740,HGDP01153,HGDP01385,NINDS_95 esv2421705 4 25165678 25187611 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5077482,essv5018950,essv5078374,essv5002834,essv5064104,essv5037404,essv5052602,essv5081121,essv5078233,essv5098028,essv5089953,essv5038142,essv5100869,essv5030917,essv5151037,essv5017145 M 1184 16 0 "" NA10845,NA11930,NA12778,NA12818,NA12830,NA19652,NA19670,NA19719,NA19721,NA19761,NA20754,NA20815,NA20849,NA20911,NA21106,NA21116 nsv470020 4 25166145 25187611 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546286,nssv546288 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00587,HGDP01385 nsv878764 4 25187611 25213030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513229 S 6533 0 1 "" SP55698 nsv878765 4 25192579 25379069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542429 S 6533 1 0 SEL1L3,SLC34A2 MS15780 nsv526729 4 25254263 25317039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703070 S 2026 0 1 SLC34A2 nsv292131 4 25258960 25259013 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310709 M 24 "" nsv507156 4 25283501 25289501 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622884,nssv620239,nssv621741 M 4 3 0 SLC34A2 NA10860,NA15510,NA18994 essv2551 4 25314919 25339644 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18974 dgv1596e1 4 25314919 25349304 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1544,esv1096,essv3674 M 271 0 0 "" NA18943,NA19012 nsv441864 4 25323324 25339974 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv822507 4 25324038 25342180 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431252 S 31 0 1 "" AK18 nsv878766 4 25419194 25551496 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542430 S 6533 1 0 C4orf52,SEL1L3 MS15780 esv1014224 4 25419589 25419589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652246 S 2 1 0 SEL1L3 HuRef esv2510000 4 25574163 25575639 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375667 S 1 0 1 "" NA18507 nsv515725 4 25579261 25593163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679881,nssv688892,nssv664581 M 2026 0 3 "" esv1727020 4 25639343 25639343 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089578 S 2 1 0 "" HuRef esv34177 4 25649671 25817608 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv290552 4 25684355 25689272 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309130 M 24 "" nsv829889 4 25779052 25947411 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443515,nssv1443513,nssv1443514,nssv1443516,nssv1443519,nssv1443524,nssv1443523,nssv1443521,nssv1443520,nssv1443512,nssv1443522,nssv1443511,nssv1443509,nssv1443508,nssv1443510 M 95 0 15 RBPJ nsv4278 4 25806925 25836224 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv379 S 9 1 0 "" NA19240 esv5405 4 25820208 25820427 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27846 S 1 0 1 Single Asian sample YH "" YH esv2550136 4 25820264 25820819 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206812 S 1 1 0 "" NA18507 esv2321151 4 25825143 25825613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867849 S 1 0 1 "" NA18507 esv1297138 4 25855070 25855070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836966 S 2 1 0 "" HuRef esv1326368 4 25855074 25855074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852502 S 2 1 0 "" HuRef esv1417370 4 25855128 25855128 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187681 S 2 1 0 "" HuRef esv29142 4 25864000 25865379 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14624 S 451 0 6 "" NA18907,NA19108,NA19129,NA19147,NA19190,NA19225 nsv822508 4 25866606 25867949 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436538 S 31 0 1 "" NA18542 nsv519405 4 25893570 25901653 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655995,nssv683727,nssv684737 M 2026 3 0 "" nsv509882 4 25895613 25901613 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618598 S 4 0 1 "" CHM dgv866n67 4 25899515 25904606 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822512,nsv822510,nsv822511 M 31 0 8 "" AK12,AK20,AK4,NA18542,NA18552,NA18564,NA18582,NA18973 esv26621 4 25899575 25904442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13491 S 451 0 5 "" NA12239,NA18858,NA19108,NA19190,NA19225 esv7668 4 25917870 25917920 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30109 S 1 1 0 "" SJK esv273523 4 26047697 26048031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581762,essv2582378,essv2583005,essv2584266 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv268725 4 26047698 26048030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576101,essv2540967,essv2571713,essv2546240,essv2526080,essv2556580,essv2545358,essv2523379,essv2531910,essv2577489,essv2570666,essv2548492,essv2576621,essv2550589,essv2554177,essv2544342,essv2552197,essv2520584,essv2547518,essv2529065,essv2558436,essv2578037,essv2559522,essv2565228,essv2564078,essv2554893,essv2537391,essv2528525,essv2546905,essv2557470,essv2556921,essv2552400,essv2550090,essv2527339,essv2561353,essv2544603,essv2562946,essv2523724,essv2552768,essv2541116,essv2538461,essv2540358,essv2524759,essv2565139,essv2534923,essv2561273,essv2539571,essv2522178,essv2531255,essv2532911,essv2567826,essv2528907,essv2541750,essv2569933,essv2535529,essv2572441,essv2559197,essv2542110,essv2556137,essv2539476,essv2578151,essv2573077,essv2555380,essv2533463,essv2566575,essv2573793,essv2557674,essv2555869,essv2534270,essv2531597,essv2573684,essv2525676,essv2526977,essv2560589,essv2524138,essv2549876,essv2571328,essv2536015,essv2537953,essv2548831,essv2554687,essv2547827,essv2525019,essv2563163,essv2558228 M 157 85 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11918,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12776,NA12812,NA12828,NA12872,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18511,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18571,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18609,NA18638,NA18856,NA18871,NA18912,NA18940,NA18942,NA18943,NA18944,NA18948,NA18951,NA18953,NA18956,NA18959,NA18961,NA18964,NA18980,NA19005,NA19116,NA19129,NA19225,NA19238 esv1142517 4 26047728 26047728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218971 S 2 1 0 "" HuRef esv23651 4 26047812 26050462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11028 S 451 0 1 "" NA19108 nsv10467 4 26051362 26063880 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13153 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv515501 4 26055104 26066266 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657507,nssv695006,nssv658937,nssv693386,nssv700606,nssv653344,nssv686846,nssv680721,nssv655736 M 2026 0 9 "" nsv878767 4 26060424 26072588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516070 S 6533 0 1 "" SP56396 nsv10468 4 26062977 26072055 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12204 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18975 dgv1597e1 4 26065365 26070983 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1059,esv1152 M 271 0 0 "" NA18975 esv275100 4 26087885 26092382 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585207,essv2585382 M 1250 1 1 CCKAR esv2461473 4 26136553 26137976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277945 S 1 0 1 "" NA18507 esv991454 4 26136976 26137898 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563645 S 3 0 1 "" HuRef esv1065196 4 26137427 26137663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186265 S 2 0 1 "" HuRef nsv527142 4 26137788 26139277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703530 S 2026 0 1 "" nsv522423 4 26234283 26315440 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705776 S 2026 1 0 TBC1D19 nsv878768 4 26234283 26375785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551728 S 6533 0 1 TBC1D19 MS18978 nsv524115 4 26240276 26315440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699993 S 2026 0 1 TBC1D19 nsv470021 4 26330676 26676125 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546289 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STIM2,TBC1D19 HGDP00376 nsv521924 4 26452592 26453772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694694 S 2026 0 1 "" nsv461312 4 26453772 26687474 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537719 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STIM2 HGDP00376 esv2334135 4 26496360 26496766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558487 S 1 0 1 STIM2 NA18507 esv1000535 4 26553140 26564492 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564186 S 3 0 1 STIM2 HuRef esv2570509 4 26564395 26567078 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309997 S 1 0 1 STIM2 NA18507 esv1919348 4 26564861 26566743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948533 S 1 0 1 STIM2 NA18507 esv23369 4 26564987 26566733 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15174 S 451 0 7 STIM2 NA12749,NA18861,NA18907,NA18916,NA19099,NA19108,NA19225 nsv822513 4 26564988 26566628 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425296 S 31 0 1 STIM2 NA18968 dgv139n6 4 26565050 26566555 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293653,nsv290050 M 24 STIM2 esv2481828 4 26639541 26639708 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164990 S 1 0 1 "" NA18507 nsv4279 4 26665470 26710872 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7072 S 9 0 1 "" NA12156 esv259564 4 26680150 26680480 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394003,essv2394303 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv260074 4 26680159 26680495 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400058,essv2398598,essv2400309,essv2395285,essv2400927,essv2395387,essv2399619,essv2399740,essv2397806,essv2395007,essv2399351,essv2396158,essv2397431,essv2399463,essv2400098,essv2394666,essv2398454,essv2397929,essv2395331,essv2394438,essv2395423,essv2398156,essv2397150,essv2397733,essv2398293,essv2398721,essv2397040,essv2400547 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA11881,NA11918,NA11993,NA12749,NA12761,NA12828,NA18505,NA18511,NA18522,NA18523,NA18566,NA18858,NA18861,NA18870,NA18871,NA18907,NA18916,NA18943,NA18948,NA18949,NA18951,NA18956,NA19093,NA19190,NA19239,NA19240 esv1000884 4 26680250 26680250 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570122 S 3 1 0 "" HuRef nsv436429 4 26706015 26712829 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466090 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv4280 4 26733907 26778948 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7940 S 9 0 1 "" NA12156 nsv507157 4 26746434 26752434 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617628 S 4 1 0 "" CHM esv259523 4 26817004 26817388 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394190,essv2393871,essv2393789,essv2393733,essv2394390 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv259695 4 26817009 26817393 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398630,essv2400197,essv2396087,essv2394785,essv2398596,essv2399088,essv2400250,essv2395847,essv2396713,essv2400302,essv2398508,essv2395279,essv2396541,essv2399115,essv2401120,essv2397549,essv2400881,essv2399820,essv2398912,essv2396027,essv2395772,essv2400573,essv2397563,essv2394465,essv2398075,essv2400267,essv2396821,essv2399970,essv2396803,essv2398654,essv2396287,essv2400748,essv2395395,essv2396676,essv2399616,essv2398279,essv2399728,essv2397347,essv2401098,essv2396952,essv2394711,essv2395258,essv2397638,essv2397848,essv2396599,essv2400649,essv2396532,essv2399327,essv2396135,essv2396615,essv2395710,essv2400717,essv2400355,essv2395487,essv2400843,essv2397410,essv2399565,essv2395054,essv2397168,essv2399854,essv2400611,essv2396865,essv2398800,essv2398938,essv2400149,essv2395740,essv2399931,essv2394607,essv2397905,essv2398243,essv2400682,essv2395335,essv2399983,essv2394880,essv2396186,essv2397521,essv2395460,essv2398127,essv2394527,essv2400394,essv2395806,essv2399634,essv2394582,essv2397014,essv2397379,essv2398286,essv2395192,essv2394868,essv2395676,essv2399767,essv2396343,essv2398034,essv2398702,essv2397218,essv2395984,essv2400485 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12828,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18505,NA18507,NA18510,NA18517,NA18522,NA18523,NA18526,NA18532,NA18542,NA18555,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18603,NA18608,NA18853,NA18856,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18947,NA18948,NA18949,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19108,NA19114,NA19116,NA19129,NA19138,NA19147,NA19190,NA19225,NA19238,NA19240 nsv293529 4 26817102 26817102 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312107 M 24 "" esv1352877 4 26817273 26817273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605538 S 2 1 0 "" HuRef nsv829890 4 26844754 26965123 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443525,nssv1443527,nssv1443526,nssv1443528 M 95 4 0 "" esv2092972 4 27026079 27026491 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828466 S 1 0 1 "" NA18507 dgv79n68 4 27104724 27272156 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv829891,nsv829892 M 95 2 0 "" nsv822514 4 27144989 27145511 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424133 S 31 0 1 "" NA18582 nsv822515 4 27145033 27145893 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439624 S 31 0 1 "" NA18537 esv22801 4 27162097 27163157 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17964 S 451 0 2 "" NA18907,NA18916 nsv291027 4 27236637 27236686 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309605 M 24 "" nsv527692 4 27270743 27271207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704168 S 2026 0 1 "" nsv878769 4 27280901 29210020 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506244 S 6533 0 1 MIR4275 SP54095 nsv878770 4 27289581 27453509 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503377 S 6533 1 0 "" SP52051 nsv878771 4 27369239 27506535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517935,nssv1512935 M 6533 0 2 "" SP55655,SP57410 esv1589600 4 27443533 27443587 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265296 S 2 0 1 "" HuRef nsv290090 4 27443534 27443587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308668 M 24 "" nsv4281 4 27465079 27497454 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2459 S 9 1 0 "" NA18555 nsv522202 4 27519741 27526127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694975 S 2026 0 1 "" nsv4282 4 27523753 27568572 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7941 S 9 0 1 "" NA12156 nsv292150 4 27541015 27545429 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310728 M 24 "" esv260043 4 27558770 27559027 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399024,essv2400910,essv2394922,essv2398951,essv2399426,essv2394863,essv2399766,essv2396371 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11993,NA18545,NA18603,NA18858,NA19114,NA19129,NA19138 esv1010995 4 27558781 27558781 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581089 S 3 1 0 "" HuRef nsv291085 4 27558783 27558783 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309663 M 24 "" esv1354692 4 27558953 27558953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064052 S 2 1 0 "" HuRef nsv878772 4 27615103 27639603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504375 S 6533 0 1 "" SP52455 nsv878773 4 27755467 28961907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521730 S 6533 1 0 MIR4275 SP52562 nsv878774 4 27762447 27864036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517963 S 6533 0 1 "" SP57418 nsv878775 4 27772954 28082146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577958 S 6533 0 1 "" IS34613 nsv878776 4 27817191 27876122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594873 S 6533 1 0 "" IS40050 dgv5491n71 4 27817191 27953001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878778,nsv878777 M 6533 0 2 "" MS17114,MS19634 dgv1598e1 4 27842402 27847096 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19046,esv997 M 271 0 0 "" NA07034 dgv5492n71 4 27873492 27953001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878779,nsv878780 M 6533 0 2 "" MS10126,MS18620 esv269340 4 27929831 27930165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546195,essv2521233,essv2542549,essv2522942,essv2543896,essv2570928,essv2531992,essv2577472,essv2554305,essv2544531,essv2529134,essv2578077,essv2553823,essv2537568,essv2528417,essv2569757,essv2544818,essv2540288,essv2524686,essv2534686,essv2559866,essv2566164,essv2528689,essv2541604,essv2569916,essv2553198,essv2535615,essv2572366,essv2559406,essv2578361,essv2573106,essv2566399,essv2529895,essv2573921,essv2522428,essv2531402,essv2573460,essv2543366,essv2577088,essv2526884,essv2536316,essv2533179 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA11881,NA11894,NA11919,NA11931,NA11992,NA11993,NA12006,NA12043,NA12287,NA12414,NA12749,NA12761,NA12763,NA12878,NA12891,NA18520,NA18526,NA18552,NA18555,NA18561,NA18570,NA18572,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18940,NA18942,NA18948,NA18949,NA18951,NA18960,NA18961,NA18964,NA18965,NA18970,NA19005 esv274621 4 27929839 27930171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581764,essv2582754 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv513125 4 28029302 28032032 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626617 S 1 0 1 "" 1 esv2470633 4 28029870 28031531 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266521 S 1 0 1 "" NA18507 esv1974343 4 28030496 28031230 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974852 S 1 0 1 "" NA18507 esv22457 4 28030554 28031189 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10865 S 451 0 9 "" NA07037,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA19099,NA19147 nsv511260 4 28030601 28041554 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624788 S 1 0 1 "" 1 esv3966 4 28030648 28031163 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26407 S 1 0 1 Single Asian sample YH "" YH esv8649 4 28030673 28031044 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31090 S 1 0 1 "" SJK nsv293683 4 28030689 28031038 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312261 M 24 "" esv29581 4 28120934 28122029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12300 S 451 0 5 "" NA18508,NA18861,NA18909,NA19108,NA19114 dgv1599e1 4 28153056 28448535 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv674,essv1942 M 271 0 0 MIR4275 NA18959 esv1006399 4 28173384 28173707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583667 S 3 0 1 "" HuRef esv1541206 4 28173398 28173722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115834 S 2 0 1 "" HuRef esv8125 4 28173400 28173733 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30566 S 1 0 1 "" SJK nsv878781 4 28177878 28289618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567750 S 6533 0 1 "" IS31145 nsv10469 4 28190917 28194713 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12331,nssv12987 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA19132,NA19240 nsv829894 4 28196421 28349938 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443532 S 95 1 0 "" nsv461313 4 28201252 28270624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537720 S 1557 0 1 "" 1780862109_A nsv878782 4 28233363 28315855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570428 S 6533 0 1 "" IS32006 essv2104 4 28241305 28331926 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18959 dgv184e55 4 28241305 28364075 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34271,esv34764 M 771 0 2 "" NA18956,NA18959 essv3422 4 28241305 28378216 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv433218 4 28250160 28341579 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463099 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv441865 4 28251431 28339922 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509883 4 28284975 28290975 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623935 S 4 0 1 "" NA18994 nsv878783 4 28289618 28452127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550566 S 6533 0 1 MIR4275 MS18465 nsv878784 4 28289618 28678992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579805 S 6533 0 1 MIR4275 IS35181 nsv509884 4 28303382 28309382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618154,nssv621223,nssv623936 M 4 0 3 "" CHM,NA15510,NA18994 nsv878785 4 28389329 28481931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592014 S 6533 0 1 MIR4275 IS39125 nsv878786 4 28426304 28452127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577863 S 6533 0 1 MIR4275 IS34599 esv1005798 4 28508249 28511073 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563463 S 3 1 0 "" HuRef esv268298 4 28534411 28534496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516720,essv2519201,essv2517419,essv2514810,essv2513893 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA12234,NA19143 esv2445673 4 28541949 28543307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372726 S 1 0 1 "" NA18507 nsv878787 4 28546678 28584340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568275 S 6533 0 1 "" IS31228 nsv437367 4 28549241 28572026 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467248 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv10470 4 28552406 28562746 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12361 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv499037 4 28553054 28561905 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585898 S 9 0 1 "" esv26774 4 28553062 28562239 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15542 S 451 0 1 "" NA19240 nsv441866 4 28553137 28561579 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514203 4 28553892 28561372 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627641 S 1414 0 1 "" nsv517672 4 28554306 28557848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677497,nssv652781,nssv686935,nssv654646,nssv652844,nssv664436,nssv677537,nssv664090,nssv680889 M 2026 0 9 "" nsv878788 4 28554306 28615973 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555358 S 6533 0 1 "" MS21294 esv2029623 4 28606330 28606762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4896916 S 1 0 1 "" NA18507 nsv289446 4 28606577 28606632 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308024 M 24 "" nsv878789 4 28615973 29160907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551085 S 6533 1 0 "" MS18756 esv268419 4 28629639 28629915 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496772,essv2509913,essv2507387,essv2504852,essv2497550,essv2493850,essv2499643 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18912,NA19099,NA19147,NA19210,NA19225 esv26336 4 28643255 28649480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11574 S 451 0 2 "" NA19099,NA19190 nsv878790 4 28690200 28777090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555057 S 6533 0 1 "" MS21182 nsv878791 4 28726667 28961907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601034 S 6533 0 1 "" IS41964 dgv1600e1 4 28733180 28750623 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1373,essv6494 M 271 0 0 "" NA18636 nsv829895 4 28768898 28923065 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443533,nssv1443534 M 95 2 0 "" dgv316n21 4 28777090 28955074 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523421,nsv518930 M 2026 2 0 "" nsv878792 4 28812651 28991828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541107 S 6533 0 1 "" MS15199 nsv524159 4 28821638 28856822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700038 S 2026 0 1 "" nsv4283 4 28826099 28852204 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv380 S 9 0 1 "" NA19240 nsv10471 4 28835481 28851042 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11935,nssv12391,nssv13017 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18980,NA19132,NA19240 nsv499038 4 28835667 28843067 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585899 S 9 0 1 "" esv24375 4 28835700 28840542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15483 S 451 0 2 "" NA19190,NA19240 nsv514204 4 28835868 28838708 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627642 S 1414 0 1 "" nsv878793 4 28872970 28923457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561956 S 6533 0 1 "" MS25304 nsv878794 4 28872970 28985253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569447 S 6533 0 1 "" IS31581 esv267540 4 28879585 28879670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515456 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv441867 4 28895502 28907251 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv878795 4 28903579 28933994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545934 S 6533 0 1 "" MS17056 nsv10473 4 28916956 28919287 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12599 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv10474 4 28919287 28927468 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11936 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 dgv1601e1 4 28919495 28940215 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2906,esv1052 M 271 0 0 "" NA19007 esv1415651 4 28930959 28930959 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689421 S 2 1 0 "" HuRef nsv470023 4 28975064 29038515 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546290 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 nsv878796 4 29016628 29098452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569067 S 6533 0 1 "" IS31419 nsv292204 4 29037891 29044868 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310782 M 24 "" esv275186 4 29060498 29064044 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585915 S 1250 0 1 "" dgv1602e1 4 29132740 29300175 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv481,essv2539 M 271 0 0 "" NA19003 nsv507158 4 29140689 29146689 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622885,nssv621742 M 4 2 0 "" NA10860,NA18994 dgv5493n71 4 29141700 29373035 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878797,nsv878798 M 6533 0 2 "" IS34440,IS41964 nsv878799 4 29169107 29247981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583942 S 6533 0 1 "" IS36728 nsv878800 4 29169107 29283079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575907 S 6533 0 1 "" IS33839 esv2541599 4 29269640 29271252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342725 S 1 0 1 "" NA18507 esv2381071 4 29270017 29270737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4925854 S 1 0 1 "" NA18507 esv5425 4 29270164 29270676 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27866 S 1 0 1 Single Asian sample YH "" YH esv1010958 4 29270209 29270536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576585 S 3 0 1 "" HuRef esv1288638 4 29270220 29270548 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964053 S 2 0 1 "" HuRef nsv293810 4 29270221 29270548 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312388 M 24 "" esv7217 4 29270224 29270540 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29658 S 1 0 1 "" SJK nsv470024 4 29313307 29400834 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546291,nssv546292 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00907,HGDP00948 esv1976319 4 29324200 29324643 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588566 S 1 0 1 "" NA18507 nsv293426 4 29324377 29324462 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312004 M 24 "" esv1138689 4 29342320 29342320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615070 S 2 1 0 "" HuRef nsv878801 4 29344583 29450510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580069 S 6533 0 1 "" IS35229 nsv526877 4 29361397 29364609 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703235 S 2026 1 0 "" nsv509885 4 29370586 29376586 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623937 S 4 0 1 "" NA18994 esv268132 4 29503778 29509855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496273,essv2506269,essv2501231 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18523,NA19093 esv267836 4 29516904 29517248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575955,essv2540899,essv2536726,essv2522757,essv2544005,essv2556668,essv2523383,essv2577362,essv2570547,essv2548408,essv2576720,essv2550663,essv2552199,essv2547523,essv2564736,essv2577820,essv2553723,essv2559489,essv2563982,essv2528389,essv2546755,essv2540180,essv2557369,essv2556924,essv2552658,essv2551947,essv2532094,essv2562587,essv2569419,essv2578821,essv2538977,essv2569647,essv2527214,essv2544656,essv2523530,essv2553046,essv2541133,essv2542682,essv2540666,essv2534700,essv2560963,essv2549577,essv2521914,essv2566114,essv2532556,essv2567898,essv2528865,essv2567360,essv2570109,essv2563611,essv2553154,essv2535550,essv2572221,essv2551018,essv2568957,essv2543418,essv2527751,essv2562397,essv2539263,essv2534111,essv2555367,essv2533604,essv2527697,essv2522459,essv2531451,essv2571866,essv2526959,essv2529478,essv2575664,essv2538612,essv2526727,essv2545238,essv2549884,essv2571324,essv2546103,essv2574101,essv2551532,essv2536218,essv2537880,essv2548944,essv2554476,essv2524821,essv2563296 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA11830,NA11831,NA11920,NA11931,NA11992,NA11994,NA12004,NA12043,NA12044,NA12045,NA12154,NA12155,NA12489,NA12717,NA12751,NA12761,NA12763,NA12776,NA12828,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18519,NA18520,NA18522,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18561,NA18562,NA18564,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18943,NA18944,NA18952,NA18960,NA18961,NA18973,NA19005,NA19093,NA19099,NA19108,NA19114,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv274076 4 29516904 29517248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582345,essv2582921,essv2584352,essv2584808,essv2583334 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 nsv524516 4 29521406 29523996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700461 S 2026 0 1 "" nsv878802 4 29581629 29765561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567495 S 6533 0 1 "" IS31094 nsv528735 4 29607559 29613595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705391 S 2026 0 1 "" esv274887 4 29675422 29680279 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585812,essv2586151 M 1250 1 1 "" esv2060180 4 29684383 29684796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4988791 S 1 0 1 "" NA18507 nsv878803 4 29692443 29765561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576032 S 6533 0 1 "" IS33864 dgv1603e1 4 29737882 29896542 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv5,essv24239 M 271 0 0 "" NA10856 dgv317n21 4 29751755 29756878 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528409,nsv517529 M 2026 0 14 "" nsv523112 4 29753918 29756878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698811 S 2026 0 1 "" esv23537 4 29760641 29761296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17407 S 451 0 1 "" NA18916 nsv878804 4 29771860 30021293 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546086 S 6533 0 1 "" MS17114 esv2416772 4 29785920 29786361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4529593 S 1 0 1 "" NA18507 nsv510919 4 29788276 29809003 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621573 S 4 0 0 "" NA15510 nsv507159 4 29866248 29872248 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620240,nssv622886 M 4 2 0 "" NA15510,NA18994 esv268683 4 29882223 29882543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500861,essv2511402,essv2507163,essv2513352,essv2502686,essv2501458 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA11920,NA18870,NA18907,NA18965,NA19093 esv270538 4 29886922 29887297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504030 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv10475 4 29894900 29901290 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13002 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv461315 4 29957151 30267633 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537721 S 1557 0 1 "" 1780862250_A nsv878805 4 29994854 30082197 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579806 S 6533 0 1 "" IS35181 dgv5494n71 4 30041239 30118029 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878807,nsv878806 M 6533 0 4 "" IS37422,IS37428,IS38846,MS10737 esv1001097 4 30076017 30086214 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563859 S 3 0 1 "" HuRef esv6902 4 30086457 30086547 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29343 S 1 1 0 "" SJK nsv509001 4 30132924 30153522 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620787,nssv618025 M 4 2 0 "" CHM,NA15510 nsv522200 4 30133206 30145877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694973 S 2026 0 1 "" esv996269 4 30150470 30151525 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565345 S 3 1 0 "" HuRef esv1437443 4 30151514 30151514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936504 S 2 1 0 "" HuRef nsv4284 4 30161030 30192779 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10400 S 9 1 0 "" NA18956 nsv290955 4 30215784 30215784 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309533 M 24 "" nsv878808 4 30239480 30272338 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600168 S 6533 0 1 "" IS41853 nsv878809 4 30261294 30285523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552432,nssv1558266,nssv1555153 M 6533 0 3 "" MS19420,MS21214,MS23189 esv1000344 4 30275455 30275874 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563936 S 3 1 0 "" HuRef esv3805 4 30292303 30292604 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26246 S 1 0 1 Single Asian sample YH "" YH nsv526636 4 30305896 30312341 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702958 S 2026 0 1 "" nsv4285 4 30424740 30447882 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10401 S 9 0 1 PCDH7 NA18956 nsv4286 4 30427183 30460581 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7942 S 9 1 0 PCDH7 NA12156 nsv499039 4 30428311 30439240 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585900 S 9 0 1 PCDH7 nsv878810 4 30432255 30596493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579106 S 6533 0 1 PCDH7 IS35018 nsv4288 4 30464637 30498482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7943 S 9 1 0 PCDH7 NA12156 esv274068 4 30501133 30501441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578917,essv2579423 M 7 2 0 Samples from several populations that are part of the HapMap project. PCDH7 NA19239,NA19240 esv269545 4 30501148 30501485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577214,essv2576884,essv2553549,essv2565528,essv2520055,essv2546966,essv2540145,essv2550171,essv2558832,essv2536955,essv2569624,essv2527162,essv2562816,essv2565170,essv2539906,essv2560017,essv2541481,essv2566902,essv2556291,essv2562242,essv2578371,essv2555356,essv2557586,essv2531593,essv2573704,essv2526671,essv2549823,essv2571350,essv2549070,essv2554536,essv2563187 M 157 31 0 Samples from several populations that are part of the HapMap project. PCDH7 NA07037,NA07346,NA10847,NA12043,NA12154,NA12763,NA12812,NA12815,NA12892,NA18489,NA18511,NA18516,NA18517,NA18520,NA18522,NA18532,NA18558,NA18563,NA18570,NA18592,NA18853,NA18871,NA18909,NA18940,NA18943,NA18953,NA18961,NA18964,NA19114,NA19225,NA19238 nsv289917 4 30584967 30584967 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308495 M 24 PCDH7 nsv461316 4 30594226 31978979 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537722 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH7 HGDP01336 esv2481294 4 30594659 30596133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386057 S 1 0 1 PCDH7 NA18507 nsv878811 4 30596493 30628377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598077 S 6533 0 1 PCDH7 IS41113 esv1008795 4 30623018 30624141 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587275 S 3 0 1 PCDH7 HuRef nsv822516 4 30623018 30624141 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437378,nssv1431253,nssv1438760,nssv1427435,nssv1424134,nssv1434360,nssv1421643,nssv1440290,nssv1435811,nssv1441008,nssv1425125,nssv1436540,nssv1423333,nssv1425308,nssv1428984,nssv1433593 M 31 0 16 PCDH7 AK12,AK18,AK8,NA18526,NA18542,NA18564,NA18566,NA18570,NA18582,NA18592,NA18949,NA18968,NA18969,NA18973,NA18997,NA18999 nsv289500 4 30679037 30685504 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308078 M 24 PCDH7 esv270619 4 30705495 30705633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506037,essv2506708 M 157 2 0 Samples from several populations that are part of the HapMap project. PCDH7 NA18523,NA19108 nsv290639 4 30760564 30761085 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309217 M 24 "" nsv878812 4 30811767 30963188 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564679 S 6533 1 0 "" IS30280 esv2215913 4 30812807 30813217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4600810 S 1 0 1 "" NA18507 esv2650641 4 30814607 30816060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240799 S 1 0 1 "" NA18507 esv2296501 4 30814734 30815421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754520 S 1 0 1 "" NA18507 esv3348 4 30814839 30815321 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25789 S 1 0 1 Single Asian sample YH "" YH nsv293773 4 30814914 30815232 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312351 M 24 "" esv988868 4 30814918 30815236 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578629 S 3 0 1 "" HuRef esv2498634 4 30814921 30815239 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377075 S 1 0 1 "" NA18507 esv1620922 4 30814925 30815244 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003480 S 2 0 1 "" HuRef esv9413 4 30814925 30815246 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31854 S 1 0 1 "" SJK nsv525010 4 30855478 30859804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701047 S 2026 0 1 "" dgv867n67 4 30884603 30885255 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822518,nsv822517 M 31 0 4 "" NA18537,NA18566,NA18951,NA18997 nsv878813 4 30904231 30973757 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579512 S 6533 0 1 "" IS35127 nsv878814 4 30911109 31140595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500562 S 6533 1 0 "" SP50663 esv25989 4 30929051 30929829 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19559 S 451 0 1 "" NA07037 esv2501190 4 30947027 30948490 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340303 S 1 0 1 "" NA18507 esv2184961 4 30947390 30947963 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856874 S 1 0 1 "" NA18507 esv2869 4 30947494 30947851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25310 S 1 0 1 Single Asian sample YH "" YH nsv292557 4 30947591 30947789 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311135 M 24 "" nsv289526 4 30964272 30964359 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308104 M 24 "" dgv318n21 4 30968074 30969887 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522740,nsv528389 M 2026 0 2 "" nsv818225 4 30996622 31006716 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418058,nssv1418443 M 112 0 2 "" NA10859,NA19193 esv4406 4 31015658 31016265 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26847 S 1 0 1 Single Asian sample YH "" YH nsv878815 4 31024705 31066138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594122 S 6533 0 1 "" IS39716 nsv878816 4 31051457 31192161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590420 S 6533 0 1 "" IS38508 esv272264 4 31054009 31054376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580690 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269162 4 31054016 31054351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536723,essv2548496,essv2521689,essv2547171,essv2565423,essv2556853,essv2552580,essv2569252,essv2578630,essv2538918,essv2566795,essv2551180,essv2543678,essv2528153,essv2562463,essv2575431,essv2560581,essv2524162,essv2572787,essv2548047,essv2549654,essv2571389,essv2574396,essv2551263,essv2557873 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11920,NA12045,NA12144,NA12717,NA12812,NA18501,NA18502,NA18508,NA18510,NA18519,NA18853,NA18858,NA18870,NA18907,NA18909,NA19099,NA19116,NA19129,NA19143,NA19210,NA19225,NA19238,NA19240,NA19257 esv3336 4 31072571 31078726 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25777 S 1 0 1 Single Asian sample YH "" YH esv6278 4 31072604 31078667 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28719 S 1 0 1 "" SJK esv2454641 4 31101466 31103194 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359066 S 1 0 1 "" NA18507 esv1988091 4 31101770 31102583 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547708 S 1 0 1 "" NA18507 esv4424 4 31101915 31102456 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26865 S 1 0 1 Single Asian sample YH "" YH esv8181 4 31101962 31102397 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30622 S 1 0 1 "" SJK nsv290342 4 31101966 31102401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308920 M 24 "" nsv4289 4 31160870 31195279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3247 S 9 1 0 "" NA12878 esv274198 4 31200279 31200811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580010,essv2580895 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238 esv268274 4 31200541 31200746 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2547267,essv2564578,essv2520007,essv2552724,essv2551842,essv2578790,essv2527070,essv2566868,essv2569048,essv2562370,essv2539326,essv2560830,essv2572914,essv2549653,essv2536168,essv2563414 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10847,NA12717,NA12751,NA12815,NA18502,NA18504,NA18510,NA18522,NA18853,NA18861,NA18909,NA18912,NA19137,NA19143,NA19225 dgv1604e1 4 31224223 31411039 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv229,essv10674 M 271 0 0 "" NA18855 esv34175 4 31268475 31340045 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv878817 4 31332094 31493306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579807 S 6533 0 1 "" IS35181 nsv461318 4 31363545 31417795 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537723 S 1557 0 1 "" NINDS_147 nsv878819 4 31417795 32012205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538841 S 6533 0 1 "" MS13783 nsv829896 4 31500940 31661464 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443535 S 95 0 1 "" nsv507160 4 31538360 31544360 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622887 S 4 1 0 "" NA18994 nsv527507 4 31553254 31554868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703960 S 2026 0 1 "" nsv878820 4 31554868 31711163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569068 S 6533 0 1 "" IS31419 dgv5495n71 4 31554868 31786971 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878827,nsv878821,nsv878823,nsv878825,nsv878826,nsv878828 M 6533 0 8 "" IS31768,IS35181,IS35771,IS36244,IS36527,IS36533,MS10737,SP52708 nsv822519 4 31558804 31560230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439319 S 31 0 1 "" NA18547 nsv527508 4 31564752 31574574 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703961 S 2026 1 0 "" nsv878822 4 31564752 31664479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579399 S 6533 0 1 "" IS35100 dgv5496n71 4 31564752 31903428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878824,nsv878830 M 6533 0 2 "" IS33196,IS38604 esv274421 4 31619955 31620341 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580684,essv2579498 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269949 4 31620047 31620132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518986,essv2513912,essv2518884 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19143,NA19239 dgv5497n71 4 31631705 31769569 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878829,nsv878831 M 6533 0 5 "" IS33832,IS40368,MS13154,MS17611,MS18847 nsv518860 4 31649337 31650546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696315 S 2026 0 1 "" nsv878832 4 31676891 31856973 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555925,nssv1591662 M 6533 0 2 "" IS39011,MS21717 esv3324 4 31709737 31718486 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25765 S 1 0 1 Single Asian sample YH "" YH esv8854 4 31709776 31715020 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31295 S 1 0 1 "" SJK nsv289822 4 31709776 31718413 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308400 M 24 "" esv1212447 4 31714949 31714949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177295 S 2 1 0 "" HuRef esv2331410 4 31716770 31717200 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628967 S 1 0 1 "" NA18507 nsv878833 4 31745703 31856973 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565270 S 6533 0 1 "" IS30378 esv23082 4 31781660 31782836 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15130 S 451 0 2 "" NA18858,NA19190 nsv461319 4 31798059 31908895 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537724 S 1557 0 1 "" NINDS_194 dgv5498n71 4 31806809 31883809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878834,nsv878836,nsv878835 M 6533 0 5 "" IS34573,IS34896,IS38630,IS41113,MS10203 nsv437916 4 31942341 31948796 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468246,nssv468245 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18945,NA18949 nsv527190 4 31957285 31960561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703587 S 2026 0 1 "" esv1682192 4 31960761 31960761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036051 S 2 1 0 "" HuRef nsv523506 4 31962315 31967272 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699277 S 2026 0 1 "" esv29791 4 31965354 31968012 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17016 S 451 0 1 "" NA19129 nsv878837 4 31967454 32042505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537286 S 6533 0 1 "" MS13154 nsv878838 4 31978979 32131629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597966 S 6533 0 1 "" IS41043 dgv1605e1 4 32044228 32214847 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv215,essv10698 M 271 0 0 "" NA18855 esv1505415 4 32044947 32044947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872423 S 2 1 0 "" HuRef dgv5499n71 4 32073884 32145018 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878841,nsv878840,nsv878839 M 6533 0 4 "" IS30378,IS33839,IS34779,IS41971 dgv5500n71 4 32084341 32221627 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878842,nsv878847,nsv878845,nsv878848,nsv878850,nsv878849,nsv878844 M 6533 0 20 "" IS30292,IS30976,IS32891,IS35018,IS35622,IS36131,IS38207,IS41832,IS41884,IS41926,IS41955,MS10737,MS14485,MS18978,MS20440,MS20630,MS20850,MS21868,MS22705,MS23423 nsv878843 4 32096871 32145018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555239 S 6533 0 1 "" MS21249 nsv878846 4 32096871 32214630 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558251,nssv1596742,nssv1557070,nssv1552761,nssv1552250,nssv1580675,nssv1578323 M 6533 1 6 "" IS34758,IS35422,IS40627,MS19303,MS19630,MS22353,MS23184 nsv442899 4 32122898 32126696 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv5501n71 4 32141964 32247093 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878854,nsv878852,nsv878851,nsv878853,nsv878855 M 6533 6 0 "" IS31372,IS33970,IS38224,IS38535,IS40192,IS40556 nsv524710 4 32145018 32238005 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700695 S 2026 1 0 "" dgv5502n71 4 32145360 32221627 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878857,nsv878856 M 6533 0 2 "" IS30700,MS13154 esv2653365 4 32162024 32164981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187294 S 1 0 1 "" NA18507 esv2345789 4 32162119 32164173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946823 S 1 0 1 "" NA18507 esv270482 4 32176692 32176816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510774,essv2504193,essv2496218,essv2506011,essv2505169,essv2499839 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18511,NA18523,NA18853,NA19225 esv2464555 4 32183786 32185261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296265 S 1 0 1 "" NA18507 esv2334162 4 32184302 32185021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695093 S 1 0 1 "" NA18507 esv988525 4 32184498 32184812 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571521 S 3 0 1 "" HuRef dgv140n6 4 32184499 32184828 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290432,nsv290835 M 24 "" esv2236934 4 32188292 32188691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954640 S 1 0 1 "" NA18507 esv268166 4 32191807 32192194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509858,essv2505971,essv2509183 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18861,NA18909 esv22715 4 32218474 32219025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11231 S 451 0 1 "" NA12878 nsv525305 4 32261340 32261447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701412 S 2026 0 1 "" nsv822521 4 32296939 32297507 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425249 S 31 0 1 "" NA18592 nsv829897 4 32297351 32439601 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443536 S 95 0 1 "" dgv5503n71 4 32297410 32604777 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878858,nsv878859,nsv878860 M 6533 0 7 "" IS31067,IS31145,IS31373,IS35229,MS10737,MS11467,MS22104 esv2129909 4 32313294 32313724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972698 S 1 0 1 "" NA18507 dgv5504n71 4 32393417 32604777 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878861,nsv878863,nsv878862 M 6533 0 4 "" MS11669,MS16824,MS23290,MS25617 esv8691 4 32467172 32467271 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31132 S 1 1 0 "" SJK nsv525914 4 32531943 32583628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702118 S 2026 0 1 "" esv2431486 4 32577017 32578733 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294850 S 1 0 1 "" NA18507 nsv4290 4 32606115 32650786 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7944 S 9 0 1 "" NA12156 esv21883 4 32661882 32670769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17739 S 451 0 1 "" NA18505 nsv829898 4 32664087 32840364 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443537,nssv1443538 M 95 1 1 "" nsv523344 4 32701441 33055138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699093 S 2026 0 1 "" esv29094 4 32708221 32708722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18016 S 451 0 1 "" NA19114 esv2030668 4 32712508 32712915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649342 S 1 0 1 "" NA18507 nsv4291 4 32758159 32802669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4670 S 9 0 1 "" NA19129 esv26095 4 32761542 32762016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14087 S 451 0 1 "" NA18523 esv275484 4 32880808 32885187 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585750 S 1250 0 1 "" nsv878864 4 32882587 33330152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555213 S 6533 0 1 "" MS21242 esv271789 4 32923506 32923969 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510579,essv2493230,essv2498495,essv2513346,essv2501432,essv2497082 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA18858,NA18907,NA19093,NA19190 esv989795 4 32975575 32983961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565263 S 3 0 1 "" HuRef dgv124e180 4 32976249 32980433 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994171,esv1006187 M 3 0 1 "" HuRef nsv520670 4 32976358 32980408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690612,nssv673759,nssv687566 M 2026 0 3 "" nsv470025 4 32980408 33082728 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546295,nssv546296,nssv546293,nssv546294 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00571,HGDP00655,HGDP00716,HGDP01323 dgv5505n71 4 32981890 33115563 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878870,nsv878865,nsv878869 M 6533 0 6 "" IS35181,IS35549,IS38993,IS39011,MS18620,MS22104 esv2533655 4 32984641 32985439 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331973 S 1 1 0 "" NA18507 esv274195 4 32984963 32985092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580705 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 dgv5506n71 4 32994477 33056130 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878868,nsv878867,nsv878866 M 6533 0 6 "" IS35100,IS39100,MS15199,MS15312,MS20872,MS25751 nsv291392 4 33003262 33003262 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309970 M 24 "" dgv83n17 4 33037607 33074500 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437371,nsv437370 M 60 0 2 "" NA18857,NA19211 dgv5507n71 4 33037607 33082728 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878871,nsv878874 M 6533 0 3 "" IS37801,IS39643,MS15036 dgv5508n71 4 33039662 33056130 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878873,nsv878872 M 6533 0 6 "" IS32289,MS12266,MS18847,MS18978,MS21252,MS23670 nsv461321 4 33041141 33082728 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537725 S 1557 0 1 "" NINDS_125 nsv818226 4 33048316 33055138 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416432,nssv1416431 M 112 0 2 "" NA18515,NA18516 nsv878875 4 33054072 33074500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507066,nssv1512605,nssv1515757,nssv1499075 M 6533 0 4 "" SP50081,SP54468,SP55565,SP56267 nsv10476 4 33054151 33055902 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11465,nssv11998,nssv12288 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18564,NA19144 esv22356 4 33054618 33063061 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16197 S 451 0 3 "" NA18858,NA19114,NA19147 nsv517147 4 33054627 33055138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659723,nssv664791,nssv660600,nssv686723,nssv679733,nssv659539,nssv671553,nssv688210,nssv693915,nssv671303,nssv690411,nssv680356,nssv693943,nssv689047,nssv666082,nssv692475,nssv656676,nssv688936,nssv662153,nssv689341,nssv655386,nssv672902,nssv684721,nssv676998,nssv662935,nssv653868,nssv689293,nssv685464,nssv653214,nssv661285,nssv673491,nssv662210,nssv665808 M 2026 0 33 "" esv2422155 4 33054627 33062581 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5160821,essv5141539,essv5051088,essv5102622,essv5032938,essv5099434,essv5025829,essv5157521,essv5018362,essv5048529,essv5081712,essv5047078,essv5046507,essv5133101,essv5006624,essv5052189,essv5023604,essv5123308,essv5053348,essv5100507,essv5077803,essv5153484,essv5119966,essv5058728,essv5068996,essv5153690,essv5048214,essv5019288,essv5137283,essv5091903,essv5107668,essv5137933,essv5086090,essv5081108,essv5128839,essv5010727,essv5090655,essv5125204,essv5146834,essv5013789,essv5142934,essv5128627,essv5135474,essv5008470,essv5130157,essv5117438,essv5071225,essv5149166,essv5134684,essv5122348,essv5023574,essv5081984,essv5155776,essv5148366,essv5093848,essv5119417 M 1184 0 56 "" NA17998,NA18488,NA18515,NA18516,NA18852,NA18854,NA18855,NA18857,NA18858,NA18868,NA18924,NA18925,NA19041,NA19095,NA19114,NA19137,NA19139,NA19141,NA19147,NA19148,NA19203,NA19209,NA19210,NA19211,NA19236,NA19237,NA19238,NA19307,NA19310,NA19350,NA19359,NA19372,NA19377,NA19390,NA19391,NA19445,NA19446,NA19452,NA19468,NA19471,NA19681,NA19683,NA19701,NA19916,NA19917,NA19918,NA19985,NA20301,NA21435,NA21451,NA21491,NA21576,NA21617,NA21693,NA21768,NA21825 nsv442900 4 33055531 33062581 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514205 4 33055676 33061300 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627643 S 1414 0 1 "" nsv509886 4 33118654 33124654 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621224 S 4 0 1 "" NA15510 nsv4292 4 33143276 33156829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3248 S 9 1 0 "" NA12878 esv267943 4 33309071 33309204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507261,essv2513468,essv2506717,essv2499761,essv2511958,essv2501887,essv2498254 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18870,NA18907,NA19108,NA19225,NA19238,NA19239,NA19240 esv272536 4 33309118 33309261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584015,essv2584681,essv2583319 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1011349 4 33320045 33330362 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565758 S 3 0 1 "" HuRef nsv878876 4 33330152 33676850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527558 S 6533 0 1 "" SP58537 nsv878877 4 33503636 33559761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514411 S 6533 0 1 "" SP56004 nsv822522 4 33510785 33525344 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423334 S 31 1 0 "" NA18999 esv1961520 4 33523364 33524727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862846 S 1 0 1 "" NA18507 esv9486 4 33523567 33524619 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31927 S 1 0 1 "" SJK dgv5509n71 4 33530158 33826359 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878878,nsv878879,nsv878883 M 6533 0 3 "" IS31187,IS35083,MS20237 dgv5510n71 4 33536620 34106448 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878881,nsv878882,nsv878880 M 6533 0 4 "" IS30593,IS31179,IS31634,MS17114 dgv5511n71 4 33616587 34041190 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878885,nsv878887,nsv878884,nsv878886 M 6533 0 4 "" IS31137,MS10737,MS22104,MS22756 nsv470026 4 33689338 33964944 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546297 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226 nsv829899 4 33778283 33981903 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443543,nssv1443542,nssv1443539,nssv1443541 M 95 4 0 "" dgv5512n71 4 33786709 33907450 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878888,nsv878891 M 6533 0 2 "" IS38006,MS10758 dgv5513n71 4 33796433 33960647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878890,nsv878889 M 6533 0 2 "" IS35742,MS19923 nsv461322 4 33803333 33948197 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537726 S 1557 0 1 "" NINDS_189 nsv461325 4 33819519 33907450 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537727 S 1557 0 1 "" 1780854459_A dgv1606e1 4 33825636 34150926 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14301,esv806,essv9003 M 271 0 0 "" NA19194 nsv470027 4 33835331 33964944 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546299 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682 esv2575711 4 33850210 33863425 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196350 S 1 0 1 "" NA18507 esv2539922 4 33851170 33864512 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356961 S 1 0 1 "" NA18507 esv2349622 4 33851281 33863497 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634403 S 1 0 1 "" NA18507 nsv878892 4 33851382 34087107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550796 S 6533 0 1 "" MS18620 nsv4293 4 33920025 33955018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv381 S 9 1 0 "" NA19240 esv993766 4 33924248 33924297 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580923 S 3 0 1 "" HuRef esv2227516 4 33944446 33944929 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660366 S 1 0 1 "" NA18507 esv1723122 4 33944644 33944740 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698459 S 2 0 1 "" HuRef esv9340 4 33959086 33959186 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31781 S 1 1 0 "" SJK nsv523118 4 34009671 34017447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698818 S 2026 0 1 "" dgv185e55 4 34012429 34080429 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35025,esv35027 M 771 2 0 "" NA19192,NA19194 essv11408 4 34012465 34089261 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19192 nsv10477 4 34028040 34034891 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13183,nssv12028,nssv12891,nssv13980 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18504,NA18860,NA19144,NA19221 nsv10478 4 34115145 34129427 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13032 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv10479 4 34160508 34169921 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13062 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 dgv5514n71 4 34186717 34319054 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878893,nsv878895 M 6533 0 2 "" MS15199,MS22104 nsv878894 4 34186717 34554927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546088 S 6533 0 1 "" MS17114 dgv5515n71 4 34190319 34469747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878897,nsv878896 M 6533 0 2 "" MS14488,MS18620 nsv293710 4 34208027 34208360 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312288 M 24 "" nsv822523 4 34230979 34231752 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439330 S 31 0 1 "" NA18547 nsv289515 4 34249810 34249884 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308093 M 24 "" nsv878898 4 34264508 34369348 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561831 S 6533 0 1 "" MS25250 dgv1607e1 4 34313166 34632938 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18218,essv24232,essv4695,essv15056,essv15836,essv20927,esv629,essv23054,essv16292,essv21057,essv12172 M 271 0 0 "" NA06991,NA10856,NA12057,NA12801,NA12812,NA18622,NA19101,NA19129,NA19161,NA19223 nsv829900 4 34325586 34449600 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443544 S 95 0 1 "" dgv5516n71 4 34326273 34705058 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878899,nsv878900 M 6533 0 2 "" MS12234,MS18715 nsv528331 4 34328309 34364785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704913 S 2026 0 1 "" nsv822524 4 34337446 34343330 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425683 S 31 1 0 "" AK4 dgv5517n71 4 34338833 34469747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878902,nsv878901 M 6533 0 2 "" MS13444,MS22858 nsv4294 4 34359311 34403984 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2460 S 9 0 1 "" NA18555 esv259620 4 34359855 34365149 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394193,essv2393936 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv28187 4 34360003 34365018 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20208 S 451 1 0 "" NA12878 esv268942 4 34368459 34368544 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514475 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 dgv5518n71 4 34408184 34469747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878903,nsv878904 M 6533 0 3 "" IS31145,IS38516,MS15479 nsv4295 4 34420543 34520328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7073,nssv9391,nssv3249 M 9 0 3 "" NA12156,NA12878,NA18517 nsv829901 4 34426824 34567959 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443545,nssv1443549,nssv1443550,nssv1443546,nssv1443547,nssv1443548 M 95 0 6 "" dgv1608e1 4 34433314 34534168 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19381,essv21490,essv22270,essv20687,essv18007,essv21956,essv18561,essv19126 M 271 0 0 "" NA07000,NA07019,NA10830,NA10851,NA12005,NA12044,NA12762,NA12802 nsv878905 4 34435751 34507538 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582929,nssv1598453,nssv1597587 M 6533 1 2 "" IS36219,IS41189,IS41292 dgv1609e1 4 34441990 34492787 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22617,essv19309,essv24179,essv18530,essv3918,essv24358,essv20814,essv19484 M 271 0 0 "" NA07022,NA10839,NA10855,NA12154,NA12750,NA12751,NA12763,NA18960 nsv878906 4 34442958 34586447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541110 S 6533 0 1 "" MS15199 dgv84n17 4 34451799 34477393 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437374,nsv437373 M 60 0 2 "" NA18860,NA19132 dgv85n17 4 34451799 34507878 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437372,nsv436935 M 60 0 2 "" NA12802,NA19208 nsv461327 4 34454061 34482072 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537728 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01259 nsv508277 4 34454454 34525650 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618736 S 4 0 1 "" NA10860 nsv510890 4 34454454 34525650 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618634 S 4 0 0 "" CHM dgv43n50 4 34455406 34506156 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511251,nsv513126 M 1 0 1 "" 1 nsv442901 4 34455420 34500578 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv868n67 4 34455811 34505204 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822526,nsv822527,nsv822525 M 31 0 14 "" AK10,AK12,AK18,AK20,AK4,AK6,NA18526,NA18542,NA18564,NA18968,NA18969,NA18972,NA18997,NA18999 nsv10480 4 34455823 34506283 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12421,nssv13213,nssv11927,nssv11966,nssv11806,nssv13122,nssv12318,nssv14010,nssv13058,nssv11857,nssv12309,nssv11612,nssv29138,nssv29086,nssv12629,nssv11752,nssv11990,nssv11715,nssv11965,nssv13823 M 31 20 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18972,NA18980,NA19007,NA19173,NA19221,NA19240 nsv821490 4 34455935 34505204 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420408 S 1 0 1 "" NA10851 nsv433454 4 34456032 34499424 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463335 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 esv24368 4 34456456 34505204 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20700 S 451 23 2 "" NA07037,NA11931,NA11995,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA18502,NA18505,NA18523,NA18861,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv437917 4 34456637 34541682 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468256,nssv468269,nssv468260,nssv468257,nssv468262,nssv468271,nssv468253,nssv468249,nssv468259,nssv468261,nssv468251,nssv468270,nssv468267,nssv468266,nssv468264,nssv468265,nssv468255,nssv468254,nssv468247,nssv468248,nssv468250,nssv468268,nssv468258 M 269 0 18 Samples from several populations that are part of the HapMap project. "" NA07034,NA10859,NA10860,NA11832,NA11992,NA12156,NA12802,NA12815,NA12878,NA18529,NA18858,NA18860,NA19098,NA19131,NA19132,NA19200,NA19206,NA19208 nsv820031 4 34456706 34504926 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418743 S 2 1 0 "" AK1 esv33822 4 34457430 34503183 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93843,essv100752,essv94371,essv96970,essv95516,essv97148,essv99936,essv93379,essv98460 M 51 0 9 "" 21634,21656,21808,21817,21847,22075,22086,22170,22352 dgv1610e1 4 34458469 34492787 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20463,essv1054,essv9840,essv18668,essv4100,essv13998,essv18501,essv19747,essv21351,essv18477,essv8720,essv19045,essv22253,essv18028,essv22698,essv1655 M 271 0 0 "" NA06994,NA07034,NA10859,NA10860,NA11832,NA11992,NA12004,NA12056,NA12156,NA12878,NA18529,NA18961,NA18975,NA19098,NA19144,NA19200 dgv1611e1 4 34458469 34522024 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23310,essv7942,essv17354,essv24220,essv8398,essv14255,essv8696,essv14956,essv23161,essv20509,essv16611,essv20723,essv24625,essv18051,essv19349,essv24334,essv5889,essv6052,essv18537,essv22026,essv12890,essv18885,essv19833,essv16190 M 271 0 0 "" NA06985,NA06993,NA10831,NA10846,NA10847,NA11882,NA11993,NA12144,NA12264,NA12716,NA12717,NA12752,NA12815,NA18506,NA18517,NA18522,NA18576,NA18603,NA18912,NA19093,NA19100,NA19132,NA19203,NA19208 nsv514206 4 34460772 34503368 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627644 S 1414 0 1 "" dgv1612e1 4 34462310 34632938 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2985,essv6294,essv7139,essv23453,essv12362,essv7153,essv2869,essv19441,essv18385,essv6150,essv6577,essv11668,essv19497,essv17903,essv3369,essv12845,essv3881 M 271 0 0 "" NA10854,NA11840,NA12003,NA12249,NA12864,NA18532,NA18537,NA18547,NA18609,NA18621,NA18945,NA18953,NA18981,NA18994,NA19120,NA19138,NA19154 nsv428441 4 34462310 34632938 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454448,nssv454449 M 62 2 0 "" HGDP00449,NA19225 esv2421331 4 34462895 34501120 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5058224,essv5071988,essv5037373,essv5095543,essv5068041,essv5043823,essv5046181,essv5095707,essv5048027,essv5096142,essv5019331,essv5058509,essv5051671,essv5116639,essv5034074,essv5025334,essv5108950,essv5128018,essv5116558,essv5056681,essv5100762,essv5112608,essv5067438,essv5010363,essv5025294,essv5016697,essv5013304,essv5069630,essv5081057,essv5075193,essv5019048,essv5054762,essv5118161,essv5028869,essv5101939,essv5149387,essv5152580,essv5098467,essv5055037,essv5147088,essv5050744,essv5136657,essv5081719,essv5013336,essv5024597,essv5072972,essv5094297,essv5098341,essv5016303,essv5027766,essv5122916,essv5110016,essv5042059,essv5036825,essv5051591,essv5076425,essv5095070,essv5055703,essv5035331,essv5028626,essv5118415,essv5095358,essv5089400,essv5023082,essv5049380,essv5079800,essv5075292,essv5025535,essv5059966,essv5020345,essv5088692,essv5012777,essv5151503,essv5086971,essv5017725,essv5022209,essv5068576,essv5099087,essv5142421,essv5043222,essv5009160,essv5145878,essv5102021,essv5013228,essv5041669,essv5095302,essv5080751,essv5096052,essv5147893,essv5091971,essv5051890,essv5158082,essv5041535,essv5088348,essv5067119,essv5028424,essv5051665,essv5038645,essv5127516,essv5100103,essv5092575,essv5039494,essv5081015,essv5036957,essv5067324,essv5091246,essv5119516,essv5081226,essv5029047,essv5156525,essv5025390,essv5156360,essv5005689,essv5131759,essv5078953,essv5021120,essv5029530,essv5110993,essv5048459,essv5029242,essv5069278,essv5084690,essv5030319,essv5145606,essv5129375,essv5152543,essv5080617,essv5045621,essv5121215,essv5070752,essv5102446,essv5063370,essv5027911,essv5145129,essv5140066,essv5021056,essv5157320,essv5090135,essv5095413,essv5109668,essv5129541,essv5075000,essv5105076,essv5062285,essv5004949,essv5087050,essv5004889,essv5061437,essv5028094,essv5069235,essv5010156,essv5082911,essv5008167,essv5032293,essv5080005,essv5069442,essv5111244,essv5159686,essv5059972,essv5086331,essv5019326,essv5020482,essv5095023,essv5039614,essv5034032,essv5052753,essv5135217,essv5159577,essv5051558,essv5006451,essv5136046,essv5045986,essv5150555,essv5069180,essv5110986,essv5160445,essv5139511,essv5096369,essv5008901,essv5070746,essv5087768,essv5112619,essv5141686,essv5156139,essv5053036,essv5048675,essv5013453,essv5063471,essv5103594,essv5104372,essv5146110,essv5075970,essv5014552,essv5071870,essv5126090,essv5050945,essv5002500,essv5061609,essv5138275,essv5098733,essv5077815,essv5120851,essv5160641,essv5087419,essv5020704,essv5058928,essv5101770,essv5038469,essv5072921,essv5007202,essv5135429,essv5048291,essv5120634,essv5135167,essv5124906,essv5096777,essv5148904,essv5004709,essv5066599,essv5005156,essv5133959,essv5072117,essv5130947,essv5129111,essv5088142,essv5007301,essv5008519,essv5122663,essv5115242,essv5130375,essv5095747,essv5151695,essv5114220,essv5020054,essv5115318,essv5054663,essv5114668,essv5037565,essv5126753,essv5051435,essv5009142,essv5021778,essv5135328,essv5132765,essv5145682,essv5003095,essv5047368,essv5093240,essv5113191,essv5088729,essv5054397,essv5096645,essv5157466,essv5020042,essv5065802,essv5018763,essv5042074,essv5064772,essv5005714,essv5023353,essv5151308,essv5159732,essv5146693,essv5086438,essv5029159,essv5137193,essv5039760,essv5010620,essv5032873,essv5034105,essv5118376,essv5150811,essv5053493,essv5007431,essv5131140,essv5144585,essv5113219,essv5022554,essv5135906,essv5099056,essv5076134,essv5037750,essv5011844,essv5118298,essv5090335,essv5145540,essv5077457,essv5107046,essv5083702,essv5134775,essv5003673,essv5138158,essv5019039,essv5111599,essv5063837,essv5063952,essv5140826,essv5063367,essv5100935,essv5119702,essv5012971,essv5150477,essv5043380,essv5118521,essv5132709,essv5008725,essv5155598,essv5120149,essv5073777,essv5084408,essv5070151,essv5057860,essv5092591,essv5018455,essv5016732,essv5016032,essv5024732,essv5136219,essv5015423,essv5047944,essv5052077,essv5015161,essv5160101,essv5137481,essv5075221,essv5061180,essv5109302,essv5152352,essv5028973,essv5039833,essv5038287,essv5141803,essv5005017,essv5058987,essv5028891,essv5008331,essv5022458,essv5078956,essv5014521,essv5006410,essv5122526,essv5095264,essv5061376,essv5057225,essv5044319,essv5116725,essv5125895,essv5131512,essv5101146,essv5011145,essv5091116,essv5016944,essv5001899,essv5019700,essv5075692,essv5063251,essv5132917,essv5105629,essv5146672 M 1184 0 359 "" NA06984,NA06985,NA06993,NA06994,NA06997,NA07000,NA07022,NA07031,NA07045,NA07051,NA07435,NA10830,NA10831,NA10838,NA10839,NA10840,NA10846,NA10847,NA10850,NA10852,NA10855,NA10859,NA10863,NA10864,NA10865,NA11829,NA11831,NA11832,NA11843,NA11881,NA11882,NA11891,NA11893,NA11894,NA11917,NA11992,NA11993,NA12005,NA12006,NA12044,NA12056,NA12144,NA12145,NA12146,NA12154,NA12156,NA12264,NA12273,NA12282,NA12286,NA12344,NA12347,NA12348,NA12375,NA12383,NA12707,NA12708,NA12716,NA12749,NA12750,NA12751,NA12752,NA12760,NA12762,NA12763,NA12767,NA12777,NA12802,NA12814,NA12815,NA12817,NA12828,NA12829,NA12832,NA12843,NA12873,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17967,NA17972,NA17975,NA17980,NA17996,NA18108,NA18114,NA18125,NA18135,NA18150,NA18155,NA18160,NA18506,NA18508,NA18509,NA18511,NA18517,NA18519,NA18529,NA18562,NA18576,NA18603,NA18630,NA18645,NA18689,NA18858,NA18860,NA18868,NA18869,NA18910,NA18911,NA18912,NA18923,NA18924,NA18925,NA18933,NA18946,NA18960,NA18961,NA18975,NA18979,NA19010,NA19041,NA19064,NA19065,NA19067,NA19075,NA19087,NA19093,NA19096,NA19098,NA19113,NA19114,NA19115,NA19131,NA19132,NA19144,NA19179,NA19184,NA19186,NA19200,NA19202,NA19203,NA19206,NA19208,NA19235,NA19237,NA19256,NA19258,NA19307,NA19310,NA19311,NA19317,NA19318,NA19346,NA19347,NA19352,NA19359,NA19360,NA19371,NA19372,NA19376,NA19381,NA19384,NA19390,NA19391,NA19398,NA19403,NA19429,NA19431,NA19434,NA19443,NA19444,NA19445,NA19448,NA19466,NA19468,NA19470,NA19471,NA19474,NA19652,NA19658,NA19659,NA19661,NA19663,NA19665,NA19669,NA19670,NA19671,NA19675,NA19677,NA19678,NA19679,NA19680,NA19681,NA19685,NA19686,NA19700,NA19704,NA19716,NA19718,NA19722,NA19724,NA19750,NA19751,NA19770,NA19772,NA19779,NA19781,NA19794,NA19835,NA19836,NA19901,NA20127,NA20276,NA20282,NA20284,NA20289,NA20290,NA20294,NA20295,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20342,NA20344,NA20345,NA20348,NA20504,NA20505,NA20509,NA20510,NA20512,NA20516,NA20518,NA20519,NA20520,NA20530,NA20534,NA20535,NA20540,NA20541,NA20542,NA20544,NA20581,NA20588,NA20753,NA20754,NA20755,NA20757,NA20759,NA20760,NA20761,NA20766,NA20771,NA20772,NA20773,NA20774,NA20790,NA20792,NA20795,NA20796,NA20800,NA20801,NA20802,NA20809,NA20811,NA20812,NA20816,NA20818,NA20819,NA20828,NA20847,NA20852,NA20859,NA20871,NA20872,NA20874,NA20876,NA20879,NA20882,NA20884,NA20898,NA20900,NA20902,NA20903,NA20907,NA20911,NA21088,NA21092,NA21097,NA21098,NA21115,NA21116,NA21117,NA21123,NA21125,NA21143,NA21303,NA21307,NA21309,NA21312,NA21313,NA21314,NA21320,NA21368,NA21370,NA21371,NA21378,NA21382,NA21399,NA21400,NA21405,NA21417,NA21418,NA21423,NA21425,NA21435,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21473,NA21476,NA21478,NA21479,NA21480,NA21491,NA21493,NA21494,NA21513,NA21520,NA21522,NA21529,NA21578,NA21582,NA21600,NA21608,NA21613,NA21614,NA21615,NA21616,NA21617,NA21631,NA21634,NA21682,NA21719,NA21740,NA21741,NA21776,NA21784,NA21825 nsv516874 4 34469747 34482072 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669650,nssv654815,nssv655089,nssv668642,nssv687117,nssv664414,nssv669694,nssv664533,nssv655314,nssv668082,nssv677966,nssv662839,nssv657865,nssv683092,nssv676430,nssv662414,nssv676161,nssv668184,nssv667861,nssv667230,nssv678602,nssv691144,nssv666722,nssv680324,nssv658435,nssv685950,nssv658054,nssv666374,nssv657821,nssv687854,nssv653835,nssv674374,nssv669309,nssv691611,nssv682988,nssv660062,nssv655189,nssv671754,nssv652604,nssv668390,nssv677456,nssv656498,nssv663249,nssv683566,nssv655511,nssv681930,nssv662907,nssv683901,nssv684406,nssv654185,nssv665714,nssv670564,nssv665565,nssv654212,nssv664616,nssv693725,nssv677623,nssv668618,nssv684199,nssv689630,nssv663109,nssv656170,nssv653469,nssv684154,nssv660081,nssv659880,nssv670891,nssv668137,nssv690500,nssv693864,nssv666326,nssv659179,nssv687226,nssv659134,nssv663835,nssv655975,nssv657849,nssv667775,nssv663495,nssv682156,nssv685010,nssv655370,nssv691357,nssv690897,nssv661521,nssv652782,nssv686407,nssv658307,nssv689491,nssv674007,nssv677343,nssv660721,nssv677660,nssv689151,nssv673687,nssv660998,nssv653625,nssv680115,nssv692853,nssv655432,nssv652224,nssv692431,nssv679566,nssv676830,nssv665592,nssv689886,nssv656900,nssv675583,nssv685588,nssv668959,nssv675510,nssv682830,nssv693788,nssv658098,nssv686266,nssv691542,nssv684549,nssv653580,nssv676285,nssv666976,nssv659252,nssv678404,nssv667827,nssv681916,nssv693153,nssv659563,nssv688505,nssv668793,nssv689943,nssv678951,nssv686983,nssv680803,nssv654711,nssv670352,nssv658890,nssv693999,nssv682934,nssv690314,nssv687248,nssv688749,nssv658755,nssv659282,nssv666857,nssv682758,nssv653511,nssv672536,nssv693517 M 2026 2 145 "" dgv650n27 4 34469747 34508611 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461330,nsv461329 M 1557 0 2 "" HGDP01260,NINDS_33 nsv524274 4 34469747 34528519 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700172 S 2026 1 0 "" dgv86n17 4 34477393 34518089 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437376,nsv437375 M 60 0 2 "" NA18860,NA19132 nsv821635 4 34485505 34770739 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421360,nssv1421364,nssv1421359,nssv1421362,nssv1421361,nssv1421365 M 31 0 6 "" nsv878907 4 34499424 34589936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577864 S 6533 0 1 "" IS34599 nsv878908 4 34499424 34705058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537990 S 6533 0 1 "" MS13444 dgv5519n71 4 34499424 34804557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878912,nsv878909 M 6533 0 2 "" IS34658,IS41924 nsv878910 4 34528519 34567008 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541724 S 6533 0 1 "" MS15479 dgv5520n71 4 34531827 34641503 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878911,nsv878913 M 6533 0 2 "" IS30311,IS35572 nsv10481 4 34537046 34576020 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14040 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv1642450 4 34543701 34543701 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171007 S 2 1 0 "" HuRef nsv829902 4 34578447 34725425 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443553,nssv1443552 M 95 1 1 "" nsv461331 4 34582993 34631773 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537732 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00752 nsv507161 4 34596717 34602717 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622888,nssv620241 M 4 2 0 "" NA15510,NA18994 nsv878914 4 34620097 34723412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546089 S 6533 0 1 "" MS17114 nsv4296 4 34630374 34664342 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3126 S 9 1 0 "" NA18555 esv27715 4 34632658 34634710 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17504 S 451 0 4 "" NA18502,NA18858,NA18861,NA19114 dgv5521n71 4 34662523 34772378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878916,nsv878915 M 6533 0 2 "" MS20872,MS22104 nsv521425 4 34746213 34750637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698033 S 2026 0 1 "" nsv515648 4 34749777 34749940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686724,nssv663250,nssv676431,nssv664235 M 2026 0 4 "" nsv509887 4 34815851 34821851 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621226,nssv618155,nssv623938 M 4 0 3 "" CHM,NA15510,NA18994 esv29733 4 34823213 34828562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17821 S 451 0 1 "" NA12776 nsv516130 4 34826055 34826588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666401,nssv692558,nssv655889,nssv684083,nssv670697,nssv687596,nssv678353,nssv672967 M 2026 0 8 "" nsv829903 4 34830780 34976979 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443555,nssv1443554,nssv1443556 M 95 3 0 "" esv1962218 4 34895949 34896342 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845621 S 1 0 1 "" NA18507 nsv293264 4 34896169 34896252 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311842 M 24 "" nsv822528 4 34910223 34918023 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441010 S 31 1 0 "" NA18969 esv2644003 4 34915997 34921558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317225 S 1 0 1 "" NA18507 esv2368054 4 34916489 34921013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549001 S 1 0 1 "" NA18507 esv21804 4 34916594 34920804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13815,esv17478 M 451 0 6 "" NA11931,NA11993,NA12414,NA15510,NA18907,NA19108 esv8567 4 34916647 34920840 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31008 S 1 0 1 "" SJK nsv292093 4 34916651 34920821 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310671 M 24 "" nsv822529 4 34917590 34918532 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436543 S 31 0 1 "" NA18542 nsv822530 4 34922289 34924219 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441011 S 31 0 1 "" NA18969 dgv5522n71 4 34931811 35077811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878921,nsv878919,nsv878917 M 6533 0 6 "" IS31330,IS31373,IS32615,IS35181,IS35196,IS39464 nsv878918 4 34934905 35025447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583881 S 6533 0 1 "" IS36722 dgv5523n71 4 34934905 35271888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878920,nsv878922,nsv878923 M 6533 0 3 "" IS33616,IS39450,MS15199 esv5843 4 34936368 34937466 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28284 S 1 0 0 "" SJK nsv470028 4 34953013 35051548 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546301,nssv546300 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890,HGDP00903 esv271691 4 34987371 34987456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515040 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv272479 4 34993782 34994203 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579152 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267595 4 34993895 34994240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493161,essv2504321,essv2500398,essv2497196,essv2508247,essv2512655,essv2508716,essv2505381,essv2511617,essv2495998,essv2502685,essv2512108 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18537,NA18552,NA18561,NA18577,NA18592,NA18853,NA18940,NA18961,NA18965,NA19238 nsv507162 4 35029044 35035044 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621743,nssv617629 M 4 2 0 "" CHM,NA10860 nsv507163 4 35036058 35042058 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622889,nssv620242,nssv621744,nssv617630 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv517564 4 35051548 35087026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666304,nssv652371,nssv685541,nssv676450,nssv661859,nssv654613,nssv689956 M 2026 0 7 "" nsv878924 4 35051548 35365561 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596192 S 6533 1 0 "" IS40433 nsv878925 4 35113739 35365561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568924 S 6533 0 1 "" IS31373 nsv878926 4 35121463 35264855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600767 S 6533 0 1 "" IS41924 esv26570 4 35171722 35173290 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13944 S 451 0 1 "" NA19190 esv275062 4 35184764 35188885 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586072 S 1250 0 1 "" esv32900 4 35215554 35216052 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98235 S 51 0 1 "" 21772 esv32981 4 35227244 35229935 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93329 S 51 1 0 "" 22170 esv2752045 4 35228529 35260129 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983627,essv6989833 M 771 0 1 "" BEC_674 nsv470029 4 35244357 35353304 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546302 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01223 esv33132 4 35252825 35253153 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94335 S 51 0 1 "" 21808 nsv507164 4 35260734 35266734 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617631 S 4 1 0 "" CHM nsv4297 4 35262779 35293475 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11082 S 9 1 0 "" NA15510 nsv509888 4 35265069 35271069 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618156 S 4 0 1 "" CHM esv274942 4 35282608 35291329 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585853 S 1250 0 1 "" esv270810 4 35337607 35337801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507980,essv2506111,essv2498602,essv2507152,essv2513436,essv2507345,essv2501490,essv2502004 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA18523,NA18858,NA18870,NA18907,NA18912,NA19093,NA19257 esv1244252 4 35379903 35379903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036910 S 2 1 0 "" HuRef esv1000532 4 35380596 35380596 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568081 S 3 1 0 "" HuRef esv1219033 4 35397177 35397177 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785513 S 2 1 0 "" HuRef esv270873 4 35400792 35401121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496461,essv2494820,essv2500909,essv2505790,essv2510913 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18519,NA18856,NA18861,NA19116 esv1963550 4 35416515 35416939 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712544 S 1 0 1 "" NA18507 nsv522293 4 35426967 35429270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695075 S 2026 0 1 "" esv259517 4 35450589 35450875 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393766,essv2394388 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv259990 4 35450607 35450903 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395756,essv2395588,essv2399898,essv2399427,essv2398206,essv2396441,essv2398032,essv2395933,essv2400528 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12004,NA18501,NA18504,NA18858,NA18909,NA19138,NA19147,NA19238,NA19240 esv987977 4 35450695 35450695 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573936 S 3 1 0 "" HuRef esv24956 4 35524525 35533000 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11341 S 451 0 1 "" NA18907 nsv441868 4 35524746 35527802 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2142243 4 35526045 35526503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736116 S 1 0 1 "" NA18507 nsv514207 4 35527268 35527968 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627645 S 1414 0 1 "" esv26463 4 35549907 35551845 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19289 S 451 0 1 "" NA19114 esv275508 4 35550375 35554564 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585136,essv2585569 M 1250 1 1 "" nsv508278 4 35566648 35596502 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622482 S 4 0 1 "" NA18994 nsv829905 4 35573040 35763853 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443557 S 95 1 0 ARAP2 esv1000272 4 35584120 35584206 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571631 S 3 0 1 "" HuRef dgv141n6 4 35584121 35584207 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292207,nsv289691 M 24 "" esv274990 4 35690807 35693913 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586047 S 1250 0 1 "" esv26150 4 35696942 35697516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13870 S 451 0 4 "" NA18907,NA18909,NA18916,NA19257 nsv829906 4 35704250 35864458 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443558,nssv1443559,nssv1443561,nssv1443560 M 95 4 0 ARAP2 nsv461332 4 35757638 35805882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537733 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARAP2 HGDP01416 nsv4300 4 35787377 35832486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7945 S 9 0 1 ARAP2 NA12156 nsv829907 4 35836689 35995977 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443563 S 95 1 0 ARAP2,DTHD1 nsv509889 4 35863489 35869489 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618157,nssv622049,nssv623939,nssv621227 M 4 0 4 ARAP2 CHM,NA10860,NA15510,NA18994 esv275504 4 35927238 35931329 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585998 S 1250 0 1 "" nsv4301 4 35968946 35998247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7074 S 9 1 0 DTHD1 NA12156 esv268366 4 36001559 36001898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510187,essv2510107,essv2500822,essv2511021,essv2511180,essv2504478,essv2499335,essv2505131,essv2500186,essv2512475,essv2499453,essv2501704,essv2512263,essv2495872,essv2502539,essv2507759,essv2503839,essv2493417,essv2493396,essv2504507,essv2508690,essv2505399,essv2509377 M 157 23 0 Samples from several populations that are part of the HapMap project. DTHD1 NA10851,NA11829,NA11830,NA11831,NA11931,NA11993,NA11994,NA11995,NA12006,NA12043,NA12044,NA12144,NA12155,NA12489,NA12750,NA12751,NA12761,NA12763,NA12776,NA18563,NA18592,NA18952,NA18953 esv1393189 4 36001600 36001600 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846824 S 2 1 0 DTHD1 HuRef esv2473840 4 36038567 36039911 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197716 S 1 0 1 "" NA18507 esv1973761 4 36146108 36146850 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990057 S 1 0 1 "" NA18507 dgv142n6 4 36146300 36146651 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289593,nsv289540 M 24 "" esv1002884 4 36146313 36146645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583037 S 3 0 1 "" HuRef esv1266759 4 36146318 36146651 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169119 S 2 0 1 "" HuRef esv5600 4 36146321 36146705 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28041 S 1 0 1 "" SJK nsv822532 4 36189759 36264121 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430521 S 31 0 1 "" AK16 nsv878927 4 36210799 36299720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546090 S 6533 0 1 "" MS17114 esv9496 4 36241993 36257073 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31937 S 1 0 0 "" SJK nsv525428 4 36285683 36292993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701554 S 2026 0 1 "" esv1006741 4 36328960 36329070 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569737 S 3 0 1 "" HuRef nsv291876 4 36328962 36329072 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310454 M 24 "" esv22003 4 36348198 36350143 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10723 S 451 0 4 "" NA18523,NA18861,NA19129,NA19240 nsv289554 4 36392137 36392322 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308132 M 24 "" esv1322759 4 36392233 36392341 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726898 S 2 0 1 "" HuRef nsv291352 4 36434018 36434018 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309930 M 24 "" esv2635782 4 36447022 36448552 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226283 S 1 0 1 "" NA18507 nsv513127 4 36455006 36457618 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626619 S 1 0 1 "" 1 esv991747 4 36468062 36471250 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564311 S 3 1 0 "" HuRef nsv822533 4 36474368 36486956 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425686 S 31 1 0 "" AK4 nsv829908 4 36489665 36674860 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443565,nssv1443564,nssv1443566 M 95 3 0 "" esv2500016 4 36518005 36519800 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247399 S 1 0 1 "" NA18507 esv2340849 4 36519087 36519691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630538 S 1 0 1 "" NA18507 esv3477 4 36519115 36519592 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25918 S 1 0 1 Single Asian sample YH "" YH nsv291348 4 36519142 36519484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309926 M 24 "" esv7040 4 36519152 36519485 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29481 S 1 0 1 "" SJK esv1166618 4 36519155 36519498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089174 S 2 0 1 "" HuRef nsv522133 4 36578878 36580530 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694907 S 2026 0 1 "" nsv515924 4 36580530 36607819 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672684,nssv654868,nssv677309,nssv665653,nssv675584,nssv687013,nssv661255,nssv691235,nssv703771,nssv679905,nssv698335,nssv665321 M 2026 0 12 "" esv1610921 4 36620190 36620240 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687635 S 2 0 1 "" HuRef nsv878928 4 36636831 36731283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581367 S 6533 0 1 "" IS35572 dgv5524n71 4 36667886 36731283 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878929,nsv878931,nsv878930 M 6533 0 3 "" IS31330,IS31564,IS35788 nsv527084 4 36674873 36681973 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703463 S 2026 0 1 "" esv1062832 4 36715059 36715194 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272189 S 2 0 1 "" HuRef esv28431 4 36757344 36763241 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16874 S 451 1 0 "" NA19108 nsv291965 4 36802320 36802376 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310543 M 24 "" dgv5525n71 4 36817028 36870021 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv878933,nsv878932 M 6533 2 0 "" MS14636,MS14637 esv1920871 4 36836761 36837192 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652253 S 1 0 1 "" NA18507 nsv4302 4 36967954 37000326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4735 S 9 1 0 KIAA1239 NA19129 nsv528187 4 37007812 37013198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704743 S 2026 0 1 KIAA1239 esv2445355 4 37008158 37009659 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287043 S 1 0 1 KIAA1239 NA18507 esv26310 4 37008830 37009606 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15733 S 451 1 0 KIAA1239 NA12414 esv1660515 4 37009216 37009298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307200 S 2 0 1 KIAA1239 HuRef nsv516377 4 37012094 37012151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667903,nssv677795 M 2026 0 2 KIAA1239 esv268002 4 37035132 37035521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510122,essv2500390,essv2503364,essv2497173,essv2506334,essv2511289,essv2507554,essv2495150 M 157 8 0 Samples from several populations that are part of the HapMap project. KIAA1239 NA11829,NA18537,NA18542,NA18552,NA18566,NA18570,NA18638,NA18964 nsv829909 4 37139113 37291527 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443567 S 95 0 1 C4orf19,RELL1 esv21522 4 37139569 37140158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10122 S 451 0 1 C4orf19 NA19240 esv1036244 4 37159477 37159535 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691223 S 2 0 1 C4orf19 HuRef nsv521553 4 37201282 37202688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698168 S 2026 0 1 C4orf19 nsv878934 4 37219159 37284594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576379 S 6533 1 0 C4orf19,RELL1 IS34051 esv2254243 4 37230856 37231619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980074 S 1 0 1 C4orf19 NA18507 nsv822534 4 37230989 37231600 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429737 S 31 0 1 C4orf19 AK14 esv999359 4 37231035 37231431 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566242 S 3 0 1 C4orf19 HuRef nsv4303 4 37255675 37269526 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3250 S 9 1 0 C4orf19,RELL1 NA12878 nsv822535 4 37290041 37290757 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429738,nssv1430522 M 31 0 2 RELL1 AK14,AK16 esv21588 4 37387019 37387711 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18650 S 451 1 0 "" NA12749 nsv291457 4 37415992 37416041 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310035 M 24 "" nsv520793 4 37480194 37481446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697614 S 2026 0 1 "" nsv878935 4 37528251 37591857 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554273 S 6533 1 0 PGM2,TBC1D1 MS20702 nsv526455 4 37533561 37535285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702758 S 2026 0 1 PGM2 esv2467062 4 37561480 37562945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377930 S 1 0 1 "" NA18507 nsv526805 4 37577174 37577548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703159 S 2026 0 1 TBC1D1 esv991313 4 37579705 37579705 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572569 S 3 1 0 TBC1D1 HuRef nsv461334 4 37669709 37687960 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537734 S 1557 0 1 TBC1D1 NINDS_56 nsv878936 4 37806599 37895672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544684 S 6533 0 1 TBC1D1 MS16423 nsv4304 4 37849527 37879871 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4736 S 9 1 0 "" NA19129 esv2475470 4 37927420 37929090 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276809 S 1 0 1 "" NA18507 esv275048 4 37935846 37939644 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585995 S 1250 0 1 "" esv2533549 4 37939900 37942391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299591 S 1 0 1 "" NA18507 nsv822536 4 37940170 37941868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432773 S 31 0 1 "" NA18972 nsv511263 4 37940288 37946761 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624822 S 1 0 1 "" 1 nsv513128 4 37940312 37941914 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626620 S 1 0 1 "" 1 dgv869n67 4 37940752 37942072 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822537,nsv822538 M 31 0 3 "" NA18564,NA18947,NA18969 esv22716 4 37940894 37942076 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13697,esv11364 M 451 0 12 "" NA11993,NA12004,NA12287,NA15510,NA18505,NA18523,NA18907,NA18909,NA18916,NA19099,NA19147,NA19240 nsv878937 4 37956662 37999202 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585309 S 6533 1 0 "" IS37415 nsv517317 4 38030695 38037448 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680890,nssv652141,nssv690613,nssv652483,nssv672326,nssv671651,nssv651693,nssv684763,nssv655792,nssv652634,nssv686368,nssv676617 M 2026 10 2 "" esv269906 4 38119731 38120026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500604,essv2494425,essv2500104,essv2496133,essv2511649,essv2504965,essv2509391,essv2495149,essv2512777 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18571,NA18572,NA18573,NA18603,NA18940,NA18942,NA18953,NA18964,NA18980 nsv520643 4 38135015 38142051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675968,nssv678823,nssv673492 M 2026 0 3 "" dgv319n21 4 38142051 38215692 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524517,nsv527181 M 2026 0 2 "" nsv4305 4 38162010 38182708 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4671 S 9 0 1 "" NA19129 nsv4306 4 38213412 38242330 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7075 S 9 1 0 "" NA12156 nsv819584 4 38308985 38315345 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419771 S 2 0 1 FLJ13197 AK1 nsv519560 4 38316103 38320992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696921 S 2026 0 1 FLJ13197 nsv822539 4 38339948 38343995 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432774 S 31 1 0 FLJ13197,KLF3 NA18972 esv22862 4 38341176 38343278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13141 S 451 0 2 FLJ13197,KLF3 NA12749,NA12878 nsv461336 4 38356581 38379324 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537735 S 1557 0 1 KLF3 1780862573_A nsv524237 4 38373329 38378832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700127 S 2026 0 1 KLF3 esv26369 4 38411798 38412964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17654 S 451 0 1 "" NA19108 nsv512824 4 38432028 38432236 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625460 S 1 1 0 "" 1 esv2635452 4 38432098 38432398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190531 S 1 0 1 "" NA18507 esv275476 4 38452630 38453201 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585611,essv2585822 M 1250 1 1 TLR10 dgv5526n71 4 38474956 38506210 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878938,nsv878939 M 6533 0 2 TLR1,TLR6 SP51457,SP52003 nsv818227 4 38524312 38535155 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415565 S 112 1 0 TLR6 NA12154 nsv461337 4 38644403 38689025 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537736 S 1557 0 1 TMEM156 1798860192_A esv2493459 4 38695696 38697176 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362189 S 1 0 1 TMEM156 NA18507 esv2576383 4 38706891 38708542 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265395 S 1 0 1 TMEM156 NA18507 esv2389788 4 38707296 38707960 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831641 S 1 0 1 TMEM156 NA18507 esv3383 4 38707445 38707870 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25824 S 1 0 1 Single Asian sample YH TMEM156 YH esv6492 4 38707446 38707760 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28933 S 1 0 1 TMEM156 SJK esv1006603 4 38707476 38707757 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584494 S 3 0 1 TMEM156 HuRef nsv291693 4 38707486 38707767 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310271 M 24 TMEM156 esv28537 4 38722698 38723413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19432 S 451 0 2 KLHL5 NA12878,NA19147 nsv878940 4 38732265 39100184 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537027 S 6533 1 0 KLB,KLHL5,RFC1,WDR19 MS13088 esv272117 4 38750167 38750294 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496599,essv2493665,essv2509107,essv2506307,essv2507210,essv2498898,essv2512079,essv2498077 M 157 8 0 Samples from several populations that are part of the HapMap project. KLHL5 NA18486,NA18517,NA18522,NA18523,NA18870,NA19138,NA19238,NA19240 esv274607 4 38750182 38750280 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584241,essv2583404 M 7 2 0 Samples from several populations that are part of the HapMap project. KLHL5 NA19238,NA19240 nsv822540 4 38786985 38788112 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432776 S 31 1 0 KLHL5 NA18972 esv28236 4 38792615 38799322 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14117 S 451 2 0 KLHL5 NA07037,NA12004 esv1383609 4 38848852 38848852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862926 S 2 1 0 "" HuRef esv2424590 4 38893964 38895456 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161824 S 1 0 1 WDR19 NA18507 esv2615856 4 38931995 38933370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359810 S 1 0 1 WDR19 NA18507 nsv878941 4 38976593 39100184 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539669,nssv1547721 M 6533 2 0 KLB,RFC1 MS14433,MS17527 esv1564032 4 39076501 39076562 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888509 S 2 0 1 "" HuRef esv270754 4 39086916 39087001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516802,essv2516996,essv2518634,essv2515053,essv2516584,essv2515722,essv2518020,essv2517855,essv2518212 M 157 9 0 Samples from several populations that are part of the HapMap project. KLB NA11881,NA11931,NA12287,NA12812,NA12814,NA12815,NA12872,NA12878,NA19240 esv274155 4 39086916 39087001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581504,essv2581284 M 7 2 0 Samples from several populations that are part of the HapMap project. KLB NA12878,NA19240 nsv878942 4 39119355 39214189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588185 S 6533 0 1 KLB,LIAS,LOC401127,RPL9,UGDH IS38176 nsv878943 4 39135549 39333481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537028 S 6533 1 0 C4orf34,LIAS,LOC401127,RPL9,UGDH MS13088 dgv5527n71 4 39139294 39208323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878945,nsv878944 M 6533 0 3 LIAS,LOC401127,UGDH IS30764,IS33507,IS35229 nsv878946 4 39167916 39198618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503840 S 6533 0 1 UGDH SP52117 nsv878947 4 39224877 39362912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534820 S 6533 0 1 C4orf34 MS11733 nsv441869 4 39262956 39265557 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C4orf34 nsv514208 4 39262992 39264048 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627646 S 1414 0 1 C4orf34 nsv878948 4 39333687 39424302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595916,nssv1575701 M 6533 0 2 UBE2K IS33797,IS40368 nsv878949 4 39333687 39612260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597825 S 6533 0 1 PDS5A,UBE2K IS40819 dgv5528n71 4 39366980 39490459 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878950,nsv878952,nsv878951 M 6533 0 3 UBE2K IS31875,IS34235,IS36170 esv1231626 4 39367957 39367957 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359747 S 2 1 0 "" HuRef nsv436937 4 39370709 39414600 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466818 S 60 0 1 Samples from several populations that are part of the HapMap project. UBE2K NA12707 nsv516320 4 39375133 39387042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691167,nssv686144,nssv658999,nssv689383,nssv667550,nssv679009,nssv686984,nssv676361,nssv689713,nssv680677,nssv654869,nssv656761,nssv683980,nssv685445,nssv672773,nssv655670 M 2026 0 16 UBE2K nsv878953 4 39380592 39397634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517391 S 6533 1 0 UBE2K SP57269 nsv441870 4 39380804 39389728 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 UBE2K nsv518644 4 39385203 39404904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696093 S 2026 0 1 UBE2K nsv878954 4 39410136 39453011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500088 S 6533 0 1 UBE2K SP50649 nsv528308 4 39433024 39494511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704886 S 2026 1 0 UBE2K nsv461338 4 39486849 39534915 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537737 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDS5A HGDP00110 esv26688 4 39490731 39492961 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15344 S 451 0 1 "" NA19108 esv2422397 4 39504050 39725836 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161495 S 181 1 0 LOC344967,PDS5A ND01701 nsv520312 4 39552134 39597946 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679239,nssv662773,nssv674100 M 2026 3 0 PDS5A nsv290515 4 39622727 39623473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309093 M 24 PDS5A nsv822541 4 39652117 39657310 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432777 S 31 1 0 PDS5A NA18972 esv24476 4 39654878 39656033 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17191 S 451 0 1 PDS5A NA12878 nsv527656 4 39661333 39724147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704127 S 2026 0 1 LOC344967 nsv461341 4 39661333 39863503 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537739 S 1557 1 0 LOC344967,N4BP2 NINDS_78 nsv525389 4 39683679 39724147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701511 S 2026 0 1 LOC344967 nsv511255 4 39698906 39711886 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624733 S 1 0 1 "" 1 esv2598267 4 39700809 39703605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247418 S 1 0 1 "" NA18507 nsv513129 4 39701244 39702882 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626622 S 1 0 1 "" 1 esv7855 4 39701325 39702689 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30296 S 1 0 1 "" SJK esv23637 4 39701722 39702524 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13229 S 451 0 3 "" NA11894,NA12414,NA12749 nsv291065 4 39710763 39710763 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309643 M 24 "" nsv878955 4 39740958 39836929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595917 S 6533 0 1 N4BP2 IS40368 esv29217 4 39753082 39756098 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11420 S 451 0 1 N4BP2 NA07037 nsv878956 4 39820468 39849498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499171 S 6533 1 0 N4BP2 SP50574 esv275576 4 39836929 39839366 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585461 S 1250 0 1 "" esv267827 4 39864263 39864608 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510163,essv2493488,essv2493353,essv2509888,essv2496188,essv2498597,essv2505798,essv2495547,essv2505471,essv2509398,essv2495214,essv2500793,essv2504724,essv2506907,essv2511554 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA12763,NA12776,NA18508,NA18511,NA18858,NA18861,NA18916,NA18952,NA18953,NA18964,NA18973,NA19099,NA19102 nsv513655 4 39910468 39912889 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626907 S 1 0 0 RHOH 1 nsv513656 4 39911468 39914509 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626908 S 1 0 0 RHOH 1 nsv878957 4 39925692 39967627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501365 S 6533 0 1 "" SP50876 nsv292296 4 39936060 39940477 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310874 M 24 "" nsv526806 4 39955929 39959280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703160 S 2026 0 1 "" nsv522288 4 39955929 39961736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695070 S 2026 0 1 "" nsv515912 4 39959280 39961736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673316,nssv685104,nssv665274 M 2026 0 3 "" nsv829910 4 40066527 40254739 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443568 S 95 0 1 MIR4802,RBM47 nsv528266 4 40082630 40091454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704834 S 2026 0 1 "" dgv1613e1 4 40229784 40434224 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv95,essv11415 M 271 0 0 RBM47 NA18857 nsv10482 4 40263064 40270105 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28957 S 31 0 1 Samples from several populations that are part of the HapMap project. RBM47 NA12802 nsv10484 4 40289679 40292323 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13243 S 31 0 1 Samples from several populations that are part of the HapMap project. RBM47 NA18504 nsv10485 4 40337033 40352542 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11995 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv289868 4 40346433 40349908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308446 M 24 "" nsv829911 4 40348202 40503524 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443569 S 95 1 0 NSUN7 nsv461344 4 40378733 40472919 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537740 S 1557 1 0 NSUN7 NINDS_41 nsv525845 4 40378733 40472919 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702038 S 2026 1 0 NSUN7 nsv292656 4 40393560 40394560 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311234 M 24 "" esv269927 4 40395474 40395813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514562,essv2516789,essv2516519,essv2514464,essv2517815,essv2518410,essv2513579 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11881,NA12814,NA12874,NA12878,NA19240 esv273626 4 40395474 40395813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581488,essv2581240 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv829912 4 40416866 40537374 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443570 S 95 0 1 APBB2,NSUN7 esv2064217 4 40429728 40430151 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834374 S 1 0 1 "" NA18507 esv1171789 4 40430636 40430636 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105510 S 2 1 0 "" HuRef nsv10486 4 40444369 40631862 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12303,nssv11745,nssv12025,nssv11812 M 31 4 0 Samples from several populations that are part of the HapMap project. APBB2,NSUN7 NA07048,NA18537,NA18942,NA18980 esv1008692 4 40449595 40449595 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577648 S 3 1 0 NSUN7 HuRef nsv290937 4 40449597 40449597 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309515 M 24 NSUN7 nsv4307 4 40492831 40519996 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7946 S 9 0 1 APBB2,NSUN7 NA12156 nsv461346 4 40526409 40551951 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537741 S 1557 0 1 APBB2 1780854419_A nsv519604 4 40531710 40538045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696946 S 2026 0 1 APBB2 nsv822543 4 40555437 40557597 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430523 S 31 1 0 APBB2 AK16 esv268400 4 40575925 40576270 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514634,essv2516814,essv2517506,essv2515312,essv2518048,essv2516086,essv2514299,essv2517185 M 157 8 0 Samples from several populations that are part of the HapMap project. APBB2 NA11840,NA11881,NA11918,NA12249,NA12872,NA12873,NA12874,NA18970 esv8005 4 40598553 40599734 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30446 S 1 0 0 APBB2 SJK esv268140 4 40661189 40661375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504301,essv2494099,essv2513334,essv2509343,essv2506422 M 157 5 0 Samples from several populations that are part of the HapMap project. APBB2 NA18505,NA18871,NA18907,NA18909,NA19108 nsv291290 4 40661212 40661212 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309868 M 24 APBB2 nsv4308 4 40673320 40708616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv384 S 9 1 0 APBB2 NA19240 nsv524448 4 40677501 40685972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700381 S 2026 0 1 APBB2 esv1766752 4 40678980 40679035 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621758 S 2 0 1 APBB2 HuRef esv273602 4 40705972 40706335 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580889,essv2579704 M 7 2 0 Samples from several populations that are part of the HapMap project. APBB2 NA19238,NA19240 esv268738 4 40705986 40706326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540171,essv2557115,essv2562647,essv2550048,essv2536952,essv2539226,essv2527370,essv2556452,essv2529446,essv2575610,essv2538712,essv2524043,essv2572822,essv2568657,essv2560487,essv2545717,essv2551445 M 157 17 0 Samples from several populations that are part of the HapMap project. APBB2 NA18489,NA18501,NA18507,NA18511,NA18517,NA18519,NA18522,NA18871,NA19093,NA19099,NA19108,NA19129,NA19143,NA19147,NA19190,NA19239,NA19257 nsv292366 4 40706021 40706021 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310944 M 24 APBB2 nsv819386 4 40710654 40711245 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419017 S 2 1 0 APBB2 AK1 nsv829913 4 40751552 40916158 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443571 S 95 1 0 APBB2 nsv291112 4 40762847 40762962 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309690 M 24 APBB2 nsv829914 4 40769455 40939177 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443575,nssv1443574,nssv1443572 M 95 0 3 APBB2 nsv293565 4 40856812 40856812 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312143 M 24 APBB2 esv2430788 4 41100469 41103235 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169229 S 1 0 1 LIMCH1 NA18507 nsv471807 4 41100811 41102642 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646088 M 0.021 95 LIMCH1 esv2017028 4 41100821 41102787 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891140 S 1 0 1 LIMCH1 NA18507 nsv524341 4 41100887 41102425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700248 S 2026 0 1 LIMCH1 nsv441871 4 41100891 41102324 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LIMCH1 esv27465 4 41101224 41102566 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17807 S 451 0 1 LIMCH1 NA18861 nsv293326 4 41116454 41116503 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311904 M 24 LIMCH1 esv2482453 4 41139496 41140840 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163008 S 1 0 1 LIMCH1 NA18507 esv2002334 4 41139756 41140262 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720640 S 1 0 1 LIMCH1 NA18507 esv3112 4 41139932 41140220 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25553 S 1 0 1 Single Asian sample YH LIMCH1 YH esv1310867 4 41139969 41140069 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624895 S 2 0 1 LIMCH1 HuRef nsv290711 4 41139970 41140069 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309289 M 24 LIMCH1 nsv441872 4 41152488 41161610 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LIMCH1 nsv4309 4 41208193 41240351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3251 S 9 1 0 LIMCH1 NA12878 nsv829916 4 41254086 41435839 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443588,nssv1443598,nssv1443594,nssv1443587,nssv1443593,nssv1443589,nssv1443592,nssv1443591,nssv1443590,nssv1443597,nssv1443596,nssv1443579,nssv1443599,nssv1443586,nssv1443578,nssv1443577,nssv1443576,nssv1443585,nssv1443581,nssv1443580,nssv1443582,nssv1443583 M 95 0 22 LIMCH1 esv275374 4 41273701 41278636 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585438 S 1250 0 1 LIMCH1 esv275061 4 41286169 41293947 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585215 S 1250 0 1 LIMCH1 esv273514 4 41293014 41293099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581181 S 7 1 0 Samples from several populations that are part of the HapMap project. LIMCH1 NA19240 esv272288 4 41414140 41414371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580704 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv32898 4 41441290 41443275 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98898,essv100769,essv98292,essv94357,essv97001,essv95576,essv95515,essv93732,essv97116,essv100081,essv93201,essv98367 M 51 12 0 PHOX2B 21606,21656,21772,21808,21817,21841,21847,21972,22075,22086,22170,22352 esv6637 4 41502004 41502076 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29078 S 1 1 0 "" SJK dgv5529n71 4 41596125 41735704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878959,nsv878958 M 6533 0 2 DCAF4L1,SLC30A9,TMEM33 IS31481,IS31875 esv270395 4 41615548 41615886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516510,essv2514285 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12874 nsv517276 4 41628383 41646007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655868,nssv659904,nssv654187 M 2026 0 3 TMEM33 esv33587 4 41634167 41634205 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100105 S 51 0 1 TMEM33 22086 nsv878960 4 41651070 41793966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566993 S 6533 0 1 DCAF4L1,SLC30A9,TMEM33 IS31041 dgv5530n71 4 41672561 41726229 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878961,nsv878962 M 6533 0 2 DCAF4L1,SLC30A9 IS30764,IS31729 dgv5531n71 4 41672561 41777236 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878965,nsv878963 M 6533 0 2 DCAF4L1,SLC30A9 IS39450,MS25396 dgv5532n71 4 41672561 41910182 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878966,nsv878964 M 6533 0 2 BEND4,DCAF4L1,SLC30A9 IS31385,MS21868 esv2565491 4 41717898 41719428 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287478 S 1 0 1 SLC30A9 NA18507 esv3417 4 41718605 41718928 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25858 S 1 0 1 Single Asian sample YH SLC30A9 YH esv2533350 4 41729547 41730974 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180341 S 1 0 1 SLC30A9 NA18507 esv267965 4 41782770 41783110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558019,essv2565887,essv2540770,essv2571768,essv2546585,essv2521235,essv2526105,essv2542541,essv2536638,essv2522695,essv2543992,essv2556656,essv2545418,essv2523438,essv2577305,essv2570548,essv2548569,essv2521889,essv2576757,essv2550665,essv2525434,essv2535471,essv2554007,essv2552136,essv2520347,essv2547199,essv2529341,essv2558281,essv2564340,essv2577740,essv2559745,essv2565326,essv2576403,essv2520191,essv2564003,essv2555161,essv2530560,essv2537194,essv2528469,essv2546672,essv2544572,essv2562849,essv2523804,essv2553101,essv2541109,essv2538317,essv2543031,essv2540330,essv2524506,essv2565037,essv2534551,essv2561268,essv2539528,essv2549156,essv2519793,essv2560135,essv2522130,essv2566286,essv2531135,essv2532802,essv2567689,essv2528986,essv2567352,essv2541637,essv2570236,essv2563765,essv2553417,essv2535525,essv2572400,essv2559369,essv2550872,essv2569085,essv2543651,essv2578159,essv2573053,essv2555478,essv2533466,essv2555777,essv2567159,essv2566352,essv2530097,essv2573786,essv2527494,essv2557618,essv2534498,essv2522401,essv2531512,essv2573360,essv2543222,essv2572019,essv2525785,essv2526793,essv2535967,essv2537763,essv2548824,essv2533410,essv2554397,essv2548027,essv2525041,essv2563357 M 157 100 0 Samples from several populations that are part of the HapMap project. SLC30A9 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18870,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005 esv273253 4 41782774 41783112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582091,essv2582350,essv2582884 M 7 3 0 Samples from several populations that are part of the HapMap project. SLC30A9 NA12878,NA12891,NA12892 nsv291842 4 41782814 41788309 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310420 M 24 SLC30A9 nsv822544 4 41784415 41784914 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421647 S 31 1 0 "" NA18997 nsv527340 4 41819119 41860556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703766 S 2026 0 1 BEND4 nsv523585 4 41820378 41847307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699375 S 2026 1 0 BEND4 nsv822545 4 41847018 41849775 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432778 S 31 1 0 BEND4 NA18972 dgv870n67 4 41848615 41849337 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822547,nsv822546 M 31 2 0 BEND4 AK14,AK18 esv32867 4 41888026 41890294 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93303 S 51 1 0 "" 22170 esv270136 4 41896058 41896355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507854 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 nsv509890 4 42236954 42242954 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618158 S 4 0 1 ATP8A1,MIR548M CHM esv1688400 4 42251913 42251962 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122872 S 2 0 1 ATP8A1,MIR548M HuRef nsv819220 4 42272389 42272528 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419214 S 2 1 0 ATP8A1 AK1 nsv829917 4 42283338 42493376 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443600 S 95 0 1 ATP8A1 nsv829918 4 42326158 42542635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443601 S 95 1 0 ATP8A1 esv2468239 4 42360740 42362316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323140 S 1 0 1 "" NA18507 nsv878967 4 42370991 42409636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535368 S 6533 0 1 "" MS12188 esv2421365 4 42391423 42404178 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5157645,essv5106390,essv5155455,essv5078648,essv5022432,essv5098450,essv5021669,essv5083184,essv5099095,essv5049197,essv5084781,essv5123159,essv5046826,essv5093099,essv5124722,essv5139759,essv5114786,essv5038772,essv5014580,essv5040589,essv5130872,essv5007458,essv5034609,essv5121474,essv5134694,essv5099107,essv5150929,essv5063896,essv5070089,essv5142450,essv5144558,essv5057748,essv5017017,essv5039553,essv5036023,essv5087416,essv5159916,essv5079021,essv5073417,essv5085608,essv5115844,essv5072343,essv5044963,essv5044516,essv5111527,essv5138339,essv5039151,essv5021651,essv5032826,essv5102903,essv5006869,essv5131289,essv5103652,essv5070570,essv5133911,essv5149340,essv5142191,essv5074511,essv5051497,essv5141625,essv5120877,essv5004349,essv5027762,essv5056184,essv5113907,essv5036809,essv5047760,essv5135659,essv5099717,essv5079703,essv5138757 M 1184 0 71 "" NA10838,NA11829,NA12003,NA12399,NA18484,NA18485,NA18486,NA18487,NA18529,NA18857,NA19027,NA19035,NA19093,NA19094,NA19098,NA19119,NA19197,NA19222,NA19321,NA19360,NA19382,NA19403,NA19429,NA19438,NA19445,NA19456,NA19779,NA19780,NA20277,NA20297,NA20317,NA20319,NA20337,NA20349,NA20531,NA20769,NA20796,NA20888,NA21302,NA21303,NA21307,NA21336,NA21352,NA21368,NA21371,NA21381,NA21382,NA21383,NA21391,NA21414,NA21421,NA21423,NA21425,NA21436,NA21447,NA21457,NA21489,NA21490,NA21491,NA21526,NA21527,NA21529,NA21583,NA21587,NA21650,NA21683,NA21716,NA21718,NA21722,NA21723,NA21826 nsv10487 4 42392419 42400905 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12481,nssv13273,nssv13152,nssv12020,nssv13064 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517,NA18853,NA19240 nsv471808 4 42400817 42404282 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646089 M 0.043 95 "" nsv818228 4 42400885 42403451 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418265,nssv1418266,nssv1416334,nssv1417088,nssv1416335 M 112 0 5 "" NA18529,NA18856,NA18857,NA19093,NA19094 nsv515863 4 42400885 42406871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687943,nssv655950,nssv659023,nssv652220,nssv691835,nssv678102,nssv681841,nssv673493,nssv665501,nssv677538,nssv677967,nssv664236,nssv683453,nssv663251,nssv660388,nssv685254,nssv683146,nssv678405,nssv675907,nssv679831,nssv654647,nssv691083,nssv670252,nssv663266,nssv685650,nssv678577,nssv686113,nssv682209,nssv673832,nssv675774,nssv683525,nssv673034,nssv688372,nssv657259,nssv692265,nssv665695,nssv667801,nssv672537,nssv664091,nssv672033,nssv658506,nssv660794,nssv668562,nssv660310,nssv681815,nssv680678 M 2026 0 46 "" nsv519709 4 42422535 42440045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697006 S 2026 0 1 "" nsv508279 4 42427414 42478026 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617488 S 4 0 1 "" CHM nsv511262 4 42449273 42464128 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624810 S 1 1 0 "" 1 nsv4311 4 42449890 42471486 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4737 S 9 0 1 "" NA19129 esv2494567 4 42455048 42465033 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226950 S 1 0 1 "" NA18507 nsv436414 4 42456406 42465095 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466091 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2448784 4 42456620 42464687 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300669 S 1 0 1 "" NA18507 esv2075080 4 42457250 42464483 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617449 S 1 0 1 "" NA18507 nsv499040 4 42457434 42464301 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585901 S 9 0 1 "" esv9333 4 42457441 42464332 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31774 S 1 0 1 "" SJK esv21435 4 42457499 42464276 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11094 S 451 0 24 "" NA06985,NA07037,NA11995,NA12004,NA12006,NA12287,NA12489,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 dgv871n67 4 42457500 42463809 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822549,nsv822550,nsv822548 M 31 0 5 "" AK6,NA18537,NA18968,NA18969,NA18997 nsv822551 4 42457500 42471717 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435813,nssv1425687 M 31 0 2 "" AK4,NA18566 nsv514209 4 42457700 42463668 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627647 S 1414 0 1 "" nsv4312 4 42506569 42525787 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7077 S 9 0 1 "" NA12156 nsv525721 4 42594462 42598764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701884 S 2026 0 1 GRXCR1 dgv872n67 4 42599868 42600615 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822552,nsv822554 M 31 0 11 GRXCR1 AK10,AK6,NA18537,NA18542,NA18566,NA18570,NA18582,NA18942,NA18968,NA18969,NA18997 esv5262 4 42599889 42600690 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27703 S 1 0 1 Single Asian sample YH GRXCR1 YH esv7471 4 42599925 42600611 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29912 S 1 0 1 GRXCR1 SJK nsv293526 4 42723183 42723242 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312104 M 24 GRXCR1 nsv291473 4 42723241 42723300 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310051 M 24 GRXCR1 nsv528702 4 42777713 42810072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705349 S 2026 0 1 "" dgv1614e1 4 42804500 42858360 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20836,essv24015,essv25058 M 271 0 0 "" NA11829,NA12873,NA12892 dgv1615e1 4 42804500 42905245 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7511,esv1006 M 271 0 0 "" NA18532 dgv1616e1 4 42819467 42842271 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22265,essv3255,essv6064,essv3638 M 271 0 0 "" NA11992,NA18603,NA18966,NA18967 essv7458 4 42824348 42858360 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18633 esv21940 4 42841118 42844993 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14067 S 451 1 0 "" NA19240 essv3573 4 42841267 42902511 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18987 nsv878968 4 42863640 43476596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581368 S 6533 0 1 "" IS35572 esv997481 4 42946162 42954381 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564706 S 3 0 1 "" HuRef nsv519342 4 42996762 43000322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692583,nssv657749,nssv689247,nssv655512 M 2026 0 4 "" nsv878969 4 42996762 43186582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598818 S 6533 0 1 "" IS40890 esv2532229 4 43031212 43032816 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209885 S 1 0 1 "" NA18507 nsv509891 4 43056231 43062231 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618159 S 4 0 1 "" CHM esv268115 4 43094709 43095053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514591,essv2516700,essv2517067,essv2514096,essv2518769,essv2514866,essv2515329,essv2518485,essv2516304,essv2515742,essv2518012,essv2516003,essv2514268,essv2517625,essv2516222,essv2516927 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11931,NA12043,NA12045,NA12234,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892 esv274622 4 43094714 43095048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582039,essv2582592,essv2582805 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2352113 4 43138843 43139271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4819289 S 1 0 1 "" NA18507 esv2490477 4 43147476 43151029 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172470 S 1 0 1 "" NA18507 dgv5533n71 4 43151978 43338432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878970,nsv878971 M 6533 0 3 "" IS41094,MS12827,SP57367 dgv5534n71 4 43214547 43349624 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878972,nsv878975,nsv878973 M 6533 0 3 "" IS30522,IS31679,IS33839 nsv878974 4 43221565 43295922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515758 S 6533 0 1 "" SP56267 esv990184 4 43222427 43222427 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584330 S 3 1 0 "" HuRef nsv289426 4 43222428 43222428 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308004 M 24 "" nsv290055 4 43222429 43222429 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308633 M 24 "" nsv818229 4 43228425 43232357 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417667 S 112 1 0 "" NA18994 esv1760788 4 43233619 43233685 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746267 S 2 0 1 "" HuRef nsv878976 4 43259588 43293749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515976 S 6533 0 1 "" SP56331 esv2560255 4 43314392 43315732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363526 S 1 0 1 "" NA18507 nsv509892 4 43316474 43322474 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623940,nssv621228,nssv618160,nssv622050 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv818230 4 43397133 43447097 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417853 S 112 0 1 "" NA18853 nsv4313 4 43425243 43470670 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7078 S 9 0 1 "" NA12156 nsv441873 4 43433755 43436627 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514210 4 43434688 43436584 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627649 S 1414 0 1 "" nsv515598 4 43435866 43436231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664043,nssv658263 M 2026 0 2 "" esv28211 4 43446373 43446839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11907 S 451 0 1 "" NA12749 nsv511235 4 43446393 43455970 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624511 S 1 0 1 "" 1 nsv822555 4 43446431 43446869 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425688,nssv1437379,nssv1439341,nssv1426590,nssv1422541,nssv1430524,nssv1428210,nssv1425352,nssv1428987,nssv1423337 M 31 0 10 "" AK10,AK12,AK16,AK4,AK6,NA18547,NA18552,NA18949,NA18968,NA18999 esv1010020 4 43446460 43447145 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563599 S 3 0 1 "" HuRef nsv471809 4 43446499 43446961 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646090 M 1.918 95 "" esv5343 4 43446524 43447110 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27784 S 1 0 1 Single Asian sample YH "" YH esv9362 4 43446562 43446883 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31803 S 1 0 1 "" SJK nsv526135 4 43563789 43571228 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702390 S 2026 0 1 "" esv271346 4 43581467 43581785 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511805,essv2505367 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18853 nsv878977 4 43609360 43674365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515119 S 6533 1 0 "" SP56125 esv2477653 4 43625605 43627136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180351 S 1 0 1 "" NA18507 esv2308702 4 43626098 43626789 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574225 S 1 0 1 "" NA18507 esv5884 4 43626238 43626631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28325 S 1 0 1 "" SJK esv1005663 4 43626252 43626592 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566396 S 3 0 1 "" HuRef esv1663381 4 43626253 43626594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748605 S 2 0 1 "" HuRef nsv289594 4 43626254 43626594 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308172 M 24 "" nsv291220 4 43642242 43642242 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309798 M 24 "" nsv290105 4 43642296 43642296 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308683 M 24 "" nsv291218 4 43644759 43644759 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309796 M 24 "" nsv291327 4 43644770 43644770 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309905 M 24 "" nsv289530 4 43644773 43644773 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308108 M 24 "" nsv4314 4 43693031 43719502 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2462 S 9 1 0 "" NA18555 esv21743 4 43713055 43721952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16866 S 451 0 2 "" NA19099,NA19114 nsv442902 4 43716642 43720503 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421646 4 43716642 43721161 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5040555,essv5021872,essv5113576,essv5105470,essv5085211,essv5086482,essv5097830,essv5137103,essv5013120,essv5129959,essv5099531,essv5144658,essv5072821,essv5036561,essv5009330,essv5096220,essv5061867,essv5097723,essv5133345,essv5085401,essv5065776,essv5027541,essv5144163,essv5061421,essv5001974,essv5035710,essv5143462,essv5021435,essv5112641,essv5125677,essv5030226,essv5034071,essv5010221,essv5093539,essv5057114,essv5124427,essv5123924,essv5137047,essv5035532,essv5124513,essv5015677,essv5019976,essv5009879,essv5042453,essv5118476,essv5029652,essv5138823,essv5108963,essv5068180,essv5157346,essv5004985,essv5074780,essv5002269,essv5119193,essv5002017,essv5109886,essv5005078,essv5128753,essv5088935,essv5037753,essv5035248,essv5028297,essv5150175,essv5108906,essv5118197,essv5091658,essv5026890,essv5136583,essv5154523,essv5105081,essv5127591,essv5059697,essv5109821,essv5007590,essv5059410,essv5158410,essv5066761,essv5039779,essv5118256,essv5096353,essv5011662,essv5004833,essv5059464,essv5071916,essv5077873,essv5068668,essv5037768,essv5032331,essv5144773,essv5143490,essv5079769,essv5119117,essv5073441,essv5074327,essv5006047,essv5131381,essv5119067,essv5097911,essv5034089,essv5064791,essv5096958 M 1184 0 101 "" NA18853,NA18855,NA18862,NA18863,NA18870,NA19038,NA19099,NA19102,NA19114,NA19115,NA19117,NA19137,NA19139,NA19140,NA19144,NA19150,NA19174,NA19175,NA19182,NA19183,NA19201,NA19210,NA19222,NA19256,NA19307,NA19315,NA19318,NA19321,NA19327,NA19360,NA19380,NA19383,NA19391,NA19404,NA19430,NA19437,NA19446,NA19452,NA19462,NA19468,NA19473,NA19700,NA19711,NA19818,NA19819,NA19828,NA19900,NA19902,NA20126,NA20127,NA20128,NA20281,NA20282,NA20284,NA20300,NA20322,NA20343,NA20346,NA20349,NA20350,NA20356,NA20358,NA20359,NA20360,NA21336,NA21355,NA21363,NA21365,NA21381,NA21382,NA21383,NA21387,NA21389,NA21399,NA21405,NA21417,NA21435,NA21439,NA21447,NA21453,NA21475,NA21477,NA21478,NA21517,NA21521,NA21522,NA21573,NA21575,NA21577,NA21578,NA21596,NA21599,NA21601,NA21613,NA21619,NA21632,NA21648,NA21682,NA21686,NA21689,NA21740 nsv514211 4 43717892 43720468 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627650 S 1414 0 1 "" nsv4315 4 43732306 43778326 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4738 S 9 0 1 "" NA19129 nsv4316 4 43744431 43799959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3127,nssv7947 M 9 2 0 "" NA12156,NA18555 nsv523263 4 43786468 43847523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698997 S 2026 0 1 "" esv269221 4 43876445 43877261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497204,essv2497870,essv2512347 M 157 3 0 Samples from several populations that are part of the HapMap project. KCTD8 NA18552,NA18945,NA18949 esv4811 4 43885994 43886397 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27252 S 1 0 1 Single Asian sample YH KCTD8 YH nsv292914 4 43886105 43886212 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311492 M 24 KCTD8 nsv4317 4 43906490 43951147 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7948 S 9 0 1 KCTD8 NA12156 nsv878978 4 43931165 44022887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552825 S 6533 0 1 KCTD8 MS19634 esv28915 4 44000684 44005091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17227 S 451 0 1 KCTD8 NA18858 nsv526878 4 44003304 44005235 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703236 S 2026 1 0 KCTD8 esv271008 4 44003408 44003493 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514873 S 157 1 0 Samples from several populations that are part of the HapMap project. KCTD8 NA12234 esv2467772 4 44013217 44014681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290301 S 1 0 1 KCTD8 NA18507 esv2157507 4 44013819 44014509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4778648 S 1 0 1 KCTD8 NA18507 esv2518487 4 44013993 44014313 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375599 S 1 0 1 KCTD8 NA18507 esv23034 4 44018552 44025827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21157 S 451 0 1 KCTD8 NA19257 nsv441874 4 44018589 44025731 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KCTD8 nsv514212 4 44020352 44025168 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627651 S 1414 0 1 KCTD8 nsv517413 4 44022887 44029586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658891,nssv684407,nssv670172,nssv682422,nssv668020,nssv668056,nssv651952,nssv679882,nssv681977,nssv665177,nssv679118,nssv685465,nssv677509,nssv685564,nssv654967 M 2026 0 15 KCTD8 nsv520405 4 44070777 44072251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697396 S 2026 0 1 KCTD8 nsv512825 4 44114132 44114426 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625461 S 1 1 0 KCTD8 1 esv1503360 4 44114389 44114389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991249 S 2 1 0 KCTD8 HuRef nsv4318 4 44125731 44160892 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3252 S 9 1 0 KCTD8 NA12878 nsv461348 4 44160627 44231111 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537742 S 1557 0 1 "" 1780854202_A esv7624 4 44182348 44184334 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30065 S 1 0 1 "" SJK esv2429751 4 44201617 44203414 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378686 S 1 0 1 "" NA18507 esv1998314 4 44201822 44202670 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592556 S 1 0 1 "" NA18507 esv998873 4 44201973 44203100 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564946 S 3 0 1 "" HuRef esv3431 4 44201987 44202575 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25872 S 1 0 1 Single Asian sample YH "" YH esv2476326 4 44202033 44202486 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228181 S 1 0 1 "" NA18507 nsv291320 4 44202033 44202486 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309898 M 24 "" esv6975 4 44202034 44202490 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29416 S 1 0 1 "" SJK esv1329673 4 44202036 44202490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887971 S 2 0 1 "" HuRef esv2399629 4 44203966 44204663 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965757 S 1 0 1 "" NA18507 esv3609 4 44204062 44204585 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26050 S 1 0 1 Single Asian sample YH "" YH nsv290994 4 44204135 44204452 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309572 M 24 "" esv1654206 4 44204151 44204469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856920 S 2 0 1 "" HuRef esv8244 4 44204154 44204466 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30685 S 1 0 1 "" SJK nsv433464 4 44221301 44226781 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463345 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv291346 4 44282629 44286434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309924 M 24 "" nsv509893 4 44336185 44342185 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618161,nssv622051,nssv623941 M 4 0 3 YIPF7 CHM,NA10860,NA18994 nsv4319 4 44368292 44413670 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7079 S 9 0 1 GNPDA2,GUF1 NA12156 esv1202499 4 44521678 44521908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069994 S 2 0 1 "" HuRef esv273236 4 44536662 44537083 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579362 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269743 4 44536854 44537032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503231,essv2511165,essv2505557,essv2512213,essv2510312,essv2508525,essv2502600,essv2493482,essv2505070,essv2511724,essv2496397,essv2494821,essv2498317,essv2508745,essv2497812,essv2507585,essv2508193,essv2509957,essv2498460,essv2509292,essv2504884,essv2495202,essv2501281,essv2504797,essv2506747,essv2499199,essv2510810,essv2501928,essv2502006,essv2503624,essv2511540,essv2499599,essv2513052 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA07357,NA10847,NA11881,NA11931,NA12154,NA12155,NA12414,NA12717,NA12750,NA12763,NA12828,NA18499,NA18510,NA18519,NA18526,NA18532,NA18555,NA18576,NA18579,NA18593,NA18858,NA18909,NA18942,NA18964,NA19093,NA19099,NA19108,NA19114,NA19116,NA19239,NA19257 esv997504 4 44565832 44566324 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563559 S 3 0 1 "" HuRef nsv878979 4 44566688 44797245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546091 S 6533 0 1 "" MS17114 nsv507165 4 44595561 44601561 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617632 S 4 1 0 "" CHM dgv1617e1 4 44655201 44728329 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1115,essv19834,essv21582 M 271 0 0 "" NA10847,NA12146 nsv878980 4 44656290 44710282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570306,nssv1575826,nssv1591202,nssv1580574,nssv1563827 M 6533 5 0 "" IS30082,IS31875,IS33812,IS35380,IS38651 nsv878981 4 44656290 44713340 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598838 S 6533 0 1 "" IS41224 nsv10488 4 44660035 44706373 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11495,nssv13047,nssv14070 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA19132,NA19221 dgv186e55 4 44663329 44700629 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34200,esv2752046,esv2752048,esv34309,esv34407 M 771 5 0 "" BEC_519,BEC_693,NA10847,NA11881,NA12146 esv2752047 4 44663329 44766963 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982778,essv6982779,essv6986256,essv6982781,essv6982780 M 771 1 0 "" BEC_592 nsv516124 4 44663360 44693751 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672453,nssv705044,nssv693475,nssv666375,nssv676831,nssv671025,nssv674390 M 2026 7 0 "" essv19874 4 44665239 44700609 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv2007920 4 44666571 44667108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968753 S 1 0 1 "" NA18507 dgv5535n71 4 44677695 44734354 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878983,nsv878982 M 6533 0 2 "" IS30925,IS32607 esv2318622 4 44711510 44716832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710751 S 1 0 1 "" NA18507 esv2617049 4 44718716 44725366 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275204 S 1 0 1 "" NA18507 esv1129423 4 44720552 44721120 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139306 S 2 0 1 "" HuRef esv1346073 4 44721554 44721554 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704513 S 2 1 0 "" HuRef esv1273901 4 44721557 44721557 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4035837 S 2 1 0 "" HuRef esv1253792 4 44721691 44721691 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681765 S 2 1 0 "" HuRef esv1187282 4 44721931 44721931 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145250 S 2 1 0 "" HuRef esv1138581 4 44723095 44723223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227655 S 2 0 1 "" HuRef nsv829919 4 44764658 44948565 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443602 S 95 0 1 "" esv1291410 4 44818194 44818194 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338214 S 2 1 0 "" HuRef esv1200396 4 44839749 44839749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763629 S 2 1 0 "" HuRef nsv461349 4 44870448 44959803 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537743 S 1557 0 1 "" NINDS_58 nsv878984 4 44886613 45015779 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555832 S 6533 1 0 "" MS21637 nsv461351 4 44919257 44978623 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537745 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00640 nsv4320 4 44923425 44952182 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10402 S 9 1 0 "" NA18956 nsv4322 4 44930353 44974829 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2463 S 9 0 1 "" NA18555 esv2439236 4 44931581 44933058 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191425 S 1 0 1 "" NA18507 nsv290368 4 44939183 44939183 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308946 M 24 "" nsv518941 4 44964303 44971585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696408 S 2026 0 1 "" nsv525215 4 45049872 45069062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701298 S 2026 0 1 "" nsv290323 4 45135809 45135859 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308901 M 24 "" nsv292192 4 45135827 45135877 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310770 M 24 "" dgv651n27 4 45142787 45290002 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461352,nsv461354 M 1557 2 0 "" HGDP00140,HGDP01079 nsv461353 4 45165210 45922604 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537747 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GABRG1 HGDP00455 nsv470030 4 45165210 45922604 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546304,nssv546303 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GABRG1 HGDP00455,HGDP01085 esv21620 4 45216157 45222352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12316 S 451 0 1 "" NA18505 nsv515843 4 45217342 45220642 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666564,nssv674317,nssv665231,nssv676120,nssv664992,nssv693699,nssv662174,nssv678824,nssv666004,nssv677879 M 2026 0 10 "" nsv292525 4 45295494 45295494 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311103 M 24 "" nsv290086 4 45295541 45295541 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308664 M 24 "" nsv525509 4 45333604 45336416 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701641 S 2026 1 0 "" nsv4323 4 45384731 45408262 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7949 S 9 0 1 "" NA12156 esv2595986 4 45410345 45411810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230027 S 1 0 1 "" NA18507 dgv5536n71 4 45440634 45587180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878985,nsv878986 M 6533 0 2 "" MS15199,MS22104 nsv471624 4 45521831 45730276 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550110,nssv550111 M 48 1 1 "" NA10472,NA15733 nsv829920 4 45620384 45780652 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443604,nssv1443603 M 95 0 2 GABRG1 nsv878987 4 45670100 45865562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546092 S 6533 0 1 GABRG1 MS17114 nsv878988 4 45676953 45804385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565342 S 6533 0 1 GABRG1 IS30398 nsv829921 4 45699636 45862864 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443605 S 95 1 0 GABRG1 dgv5537n71 4 45717273 45767353 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878990,nsv878989 M 6533 0 2 GABRG1 SP52114,SP56143 dgv5538n71 4 45728007 45795609 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878991,nsv878994 M 6533 0 2 GABRG1 SP51449,SP57401 dgv5539n71 4 45731958 45767353 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878992,nsv878993 M 6533 0 2 GABRG1 SP53687,SP56294 nsv509894 4 45732518 45738518 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621229,nssv622052 M 4 0 2 GABRG1 NA10860,NA15510 esv2490068 4 45750355 45753758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363701 S 1 0 1 GABRG1 NA18507 esv2113506 4 45750599 45753161 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692902 S 1 0 1 GABRG1 NA18507 esv1007613 4 45750736 45753594 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563998 S 3 0 1 GABRG1 HuRef nsv292112 4 45750762 45752966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310690 M 24 GABRG1 esv267501 4 45769568 45769793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513381,essv2509367,essv2499101,essv2510892 M 157 4 0 Samples from several populations that are part of the HapMap project. GABRG1 NA18907,NA18909,NA19114,NA19116 nsv511272 4 45890861 45899694 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624921 S 1 0 1 "" 1 nsv821008 4 45897481 45900612 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420409 S 1 0 1 "" NA10851 nsv513130 4 45897514 45899878 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626623 S 1 0 1 "" 1 esv3158 4 45897521 45899851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25599 S 1 0 1 Single Asian sample YH "" YH esv1457867 4 45897554 45899785 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157218 S 2 0 1 "" HuRef esv9586 4 45897554 45899790 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32027 S 1 0 1 "" SJK nsv293510 4 45897555 45899785 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312088 M 24 "" esv22077 4 45897575 45900235 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18485 S 451 19 7 "" NA11894,NA11993,NA12006,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225,NA19240,NA19257 nsv822556 4 45926621 45928255 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425689 S 31 0 1 "" AK4 nsv293762 4 45927797 45927797 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312340 M 24 "" esv1773031 4 45927861 45927861 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938960 S 2 1 0 "" HuRef nsv527418 4 46012680 46016620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703856 S 2026 0 1 GABRA2 esv2641107 4 46083942 46085458 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272885 S 1 0 1 GABRA2 NA18507 nsv878995 4 46117086 46284604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578643 S 6533 0 1 "" IS34830 esv269342 4 46137490 46138831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506956,essv2498701 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19102,NA19138 nsv818231 4 46249799 46284604 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417854 S 112 1 0 "" NA18852 dgv5540n71 4 46249799 46429658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878996,nsv878997 M 6533 0 2 "" IS31259,IS39718 dgv5541n71 4 46260420 46584803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv878998,nsv879000,nsv878999 M 6533 0 3 COX7B2 IS31369,IS33533,IS35229 nsv818232 4 46284604 46301350 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417249 S 112 1 0 "" NA18577 nsv292736 4 46459051 46459051 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311314 M 24 COX7B2 nsv291043 4 46459792 46459792 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309621 M 24 COX7B2 esv273230 4 46473104 46473440 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580775 S 7 1 0 Samples from several populations that are part of the HapMap project. COX7B2 NA19238 esv2450256 4 46491145 46494518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212350 S 1 0 1 COX7B2 NA18507 esv2410412 4 46491577 46494095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563649 S 1 0 1 COX7B2 NA18507 nsv879001 4 46518391 46588523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554441 S 6533 0 1 COX7B2 MS20813 nsv879002 4 46606136 46635133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499153 S 6533 0 1 GABRA4 SP50649 nsv470031 4 46676975 46701156 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546305 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GABRA4 HGDP00712 nsv4324 4 46692797 46726716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4739 S 9 1 0 "" NA19129 esv269402 4 46702504 46702589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519253,essv2517396,essv2515018,essv2515594 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12812,NA12815 nsv829922 4 46788542 46955938 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443607 S 95 1 0 GABRB1 nsv879003 4 46797750 46910696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572204 S 6533 0 1 GABRB1 IS32891 nsv4325 4 46837100 46881783 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7950 S 9 0 1 GABRB1 NA12156 esv2576648 4 46855837 46857258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279201 S 1 0 1 GABRB1 NA18507 esv6753 4 46925824 46925882 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29194 S 1 1 0 GABRB1 SJK nsv879004 4 46928957 47016947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515759 S 6533 0 1 GABRB1 SP56267 nsv4326 4 47007055 47039779 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4740 S 9 1 0 GABRB1 NA19129 esv2642095 4 47047017 47047076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269428 S 1 0 1 GABRB1 NA18507 esv25226 4 47051320 47054520 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10265 S 451 0 4 GABRB1 NA12004,NA12006,NA12749,NA12828 nsv879005 4 47103595 47243011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592542 S 6533 0 1 ATP10D,COMMD8,GABRB1 IS39243 nsv829923 4 47130896 47373200 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443612,nssv1443611,nssv1443608,nssv1443610,nssv1443609,nssv1443614,nssv1443613 M 95 7 0 ATP10D,COMMD8,CORIN esv2296261 4 47182384 47182832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519480 S 1 0 1 ATP10D NA18507 esv1010678 4 47182592 47182643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572881 S 3 0 1 ATP10D HuRef esv1569407 4 47182593 47182645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307221 S 2 0 1 ATP10D HuRef esv2588788 4 47190696 47191770 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354465 S 1 1 0 ATP10D NA18507 esv272974 4 47191252 47191584 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578882 S 7 1 0 Samples from several populations that are part of the HapMap project. ATP10D NA19239 esv268385 4 47191255 47191573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565824,essv2575996,essv2546177,essv2544192,essv2571017,essv2545611,essv2531895,essv2577369,essv2570506,essv2548551,essv2576851,essv2550807,essv2525289,essv2550262,essv2547152,essv2529413,essv2577907,essv2553792,essv2559451,essv2565336,essv2576358,essv2555119,essv2562012,essv2528449,essv2546903,essv2557512,essv2556845,essv2552446,essv2532081,essv2527146,essv2540662,essv2534664,essv2566061,essv2562428,essv2539318,essv2534128,essv2567082,essv2557582,essv2531503,essv2575342,essv2560546,essv2560849,essv2545167,essv2560296,essv2536098,essv2533379 M 157 46 0 Samples from several populations that are part of the HapMap project. ATP10D NA06986,NA07051,NA11829,NA11830,NA11881,NA11992,NA11993,NA12003,NA12006,NA12043,NA12044,NA12045,NA12154,NA12155,NA12156,NA12234,NA12717,NA12749,NA12761,NA12763,NA12776,NA12812,NA12814,NA12872,NA12874,NA12891,NA12892,NA18499,NA18501,NA18502,NA18505,NA18522,NA18552,NA18561,NA18572,NA18909,NA18912,NA18916,NA18947,NA18953,NA18961,NA19102,NA19116,NA19137,NA19172,NA19190 nsv528326 4 47219811 47228595 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704907 S 2026 1 0 ATP10D nsv879006 4 47219811 47249953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556252 S 6533 0 1 ATP10D MS21868 nsv4327 4 47227338 47252742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10404 S 9 1 0 ATP10D NA18956 nsv822557 4 47314441 47315200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437380,nssv1422543 M 31 0 2 CORIN NA18552,NA18949 nsv829924 4 47365662 47561422 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443615,nssv1443616 M 95 2 0 CORIN,NFXL1 esv27666 4 47366950 47373311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13364 S 451 0 1 CORIN NA18858 nsv879007 4 47382821 47447311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550219 S 6533 0 1 CORIN MS18375 nsv4328 4 47511224 47557010 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7080 S 9 0 1 CORIN,NFXL1 NA12156 nsv293341 4 47619884 47619958 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311919 M 24 "" esv2498611 4 47672585 47673941 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282568 S 1 0 1 CNGA1 NA18507 esv2174980 4 47672819 47673222 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565480 S 1 0 1 CNGA1 NA18507 nsv290106 4 47673005 47673128 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308684 M 24 CNGA1 nsv509895 4 47683329 47689329 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618162 S 4 0 1 CNGA1 CHM esv259703 4 47765595 47765935 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400219,essv2400654,essv2394966,essv2399328,essv2400703,essv2396333,essv2395501,essv2397179,essv2398851,essv2398993,essv2400146,essv2394652,essv2395362,essv2394435,essv2396196,essv2397527,essv2395485,essv2395137,essv2397753,essv2400375,essv2395826,essv2394588,essv2396983,essv2397389,essv2394813,essv2397999 M 144 0 0 Samples from several populations that are part of the HapMap project. TXK NA07037,NA18510,NA18511,NA18522,NA18542,NA18558,NA18563,NA18572,NA18582,NA18605,NA18608,NA18870,NA18916,NA18943,NA18944,NA18947,NA18948,NA18953,NA18956,NA18960,NA18961,NA18965,NA18973,NA18980,NA19114,NA19147 esv989923 4 47781596 47781596 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571159 S 3 1 0 TXK HuRef esv2282150 4 47789146 47789586 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601841 S 1 0 1 TXK NA18507 dgv26e197 4 47789324 47789397 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2489172,esv2606118 M 1 0 1 TXK NA18507 nsv292298 4 47800986 47801138 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310876 M 24 TXK esv1207473 4 47801046 47801250 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351133 S 2 0 1 TXK HuRef nsv293505 4 47801071 47801364 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312083 M 24 TXK esv999712 4 47816938 47816999 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578448 S 3 0 1 TXK HuRef esv1703195 4 47816945 47817007 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243184 S 2 0 1 TXK HuRef nsv820308 4 47860399 47861061 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419046 S 2 0 1 TEC AK1 nsv819666 4 47864332 47864681 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418815 S 2 0 1 TEC AK1 nsv819982 4 47868177 47873016 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419664 S 2 0 1 TEC AK1 esv275189 4 47899044 47900699 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585553 S 1250 0 1 TEC nsv461357 4 47943015 47968909 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537749 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TEC HGDP01297 nsv470032 4 47946672 48007146 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546306 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TEC HGDP01297 nsv461358 4 47946673 47968909 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537750 S 1557 0 1 TEC 1798860592_A nsv509003 4 47946878 47991935 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623412 S 4 1 0 TEC NA18994 nsv4329 4 47948870 47957730 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7951 S 9 0 1 TEC NA12156 esv268790 4 47986322 47987969 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513211,essv2510590,essv2496534,essv2498273,essv2497249,essv2508258,essv2507816,essv2499256,essv2507179,essv2509280,essv2511705,essv2504963,essv2505415,essv2497031 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA18501,NA18510,NA18526,NA18552,NA18561,NA18564,NA18605,NA18870,NA18909,NA18940,NA18942,NA18952,NA19190 dgv143n6 4 48015352 48023161 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293338,nsv292826 M 24 "" esv275483 4 48031128 48033101 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586159 S 1250 0 1 "" nsv528084 4 48082608 48108676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704620 S 2026 0 1 SLAIN2 nsv509896 4 48090102 48096102 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622053,nssv621230,nssv623942,nssv618163 M 4 0 4 SLAIN2 CHM,NA10860,NA15510,NA18994 nsv470034 4 48122530 48300385 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546307,nssv546308 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FRYL,SLAIN2,SLC10A4,ZAR1 HGDP00982,HGDP00983 nsv829925 4 48162450 48334099 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443619,nssv1443620,nssv1443618 M 95 1 2 FRYL,SLC10A4,ZAR1 dgv5542n71 4 48168196 48191561 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879009,nsv879008 M 6533 0 3 SLC10A4,ZAR1 SP54043,SP54725,SP56223 esv2581662 4 48355610 48357068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166114 S 1 0 1 FRYL NA18507 nsv513131 4 48355655 48358003 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626624 S 1 0 1 FRYL 1 esv989650 4 48356138 48356989 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563628 S 3 0 1 FRYL HuRef dgv6e22 4 48356331 48356616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array esv1423506,esv1684127 M 2 0 1 FRYL HuRef esv27329 4 48414155 48416592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19711 S 451 0 3 FRYL NA07037,NA12239,NA12828 nsv822558 4 48414490 48416779 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425372 S 31 0 1 FRYL NA18592 esv33592 4 48414719 48415117 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100672 S 51 0 1 FRYL 21656 nsv879010 4 48489160 48755898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554150,nssv1539528 M 6533 0 2 CWH43,OCIAD1,OCIAD2 MS14359,MS20630 nsv4330 4 48627793 48652878 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7952 S 9 0 1 "" NA12156 esv1703927 4 48640886 48640886 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010849 S 2 1 0 "" HuRef nsv441875 4 48674391 48688134 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CWH43 dgv1618e1 4 48743858 49354874 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20820,essv5677,essv4260,esv740,essv18904 M 271 0 0 CWH43 NA10855,NA12717,NA18603,NA18605 nsv428442 4 48752167 49354874 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454468,nssv454478,nssv454475,nssv454477,nssv454474,nssv454469 M 62 0 6 CWH43 HGDP00473,HGDP00476,HGDP01087,HGDP01089,HGDP01093,NA19096 nsv820500 4 48787535 48864540 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420410 S 1 1 0 "" NA10851 nsv510920 4 48787579 48865085 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624292,nssv621574 M 4 0 0 "" NA15510,NA18994 esv23143 4 48787979 48853706 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12520 S 451 0 30 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18505,NA18508,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 esv7435 4 48788046 48793249 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29876 S 1 0 1 "" SJK esv6077 4 48788436 48788659 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28518 S 1 0 1 "" SJK esv8766 4 48788576 48796119 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31207 S 1 0 1 "" SJK esv1601751 4 48788779 48788834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163719 S 2 0 1 "" HuRef esv1291588 4 48789201 48790380 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252138 S 2 0 1 "" HuRef esv9439 4 48789403 48789750 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31880 S 1 0 1 "" SJK dgv91e19 4 48789820 48817854 CNV Loss Ahn et al 2009 19470904 Sequencing esv6427,esv7646 M 1 0 1 "" SJK esv1112048 4 48790390 48790586 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175110 S 2 0 1 "" HuRef esv1325024 4 48790601 48791099 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833933 S 2 0 1 "" HuRef esv1617041 4 48791403 48791483 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158503 S 2 0 1 "" HuRef esv1772850 4 48791535 48791770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240999 S 2 0 1 "" HuRef esv3481 4 48793037 48853210 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25922 S 1 0 0 Single Asian sample YH "" YH dgv92e19 4 48793211 48802080 CNV Loss Ahn et al 2009 19470904 Sequencing esv9489,esv7840,esv7693 M 1 0 1 "" SJK esv1541562 4 48793610 48793984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710141 S 2 0 1 "" HuRef nsv469558 4 48794039 48895461 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649669 M 265 0 4 Samples from several populations that are part of the HapMap project. "" esv1434505 4 48794160 48794220 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652162 S 2 0 1 "" HuRef dgv93e19 4 48794802 48851164 CNV Loss Ahn et al 2009 19470904 Sequencing esv7731,esv7680,esv8368,esv9660,esv6688,esv7565 M 1 0 1 "" SJK esv7882 4 48800457 48803018 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30323 S 1 0 1 "" SJK esv8089 4 48800753 48833972 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30530 S 1 0 1 "" SJK dgv94e19 4 48804260 48816906 CNV Loss Ahn et al 2009 19470904 Sequencing esv8140,esv9050,esv7186,esv5661 M 1 0 1 "" SJK nsv435774 4 48805540 48832831 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466092 S 2 0 1 "" NA15510 esv7969 4 48807138 48809098 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30410 S 1 0 1 "" SJK dgv95e19 4 48807537 48817747 CNV Loss Ahn et al 2009 19470904 Sequencing esv6910,esv7151 M 1 0 1 "" SJK dgv96e19 4 48810261 48851669 CNV Loss Ahn et al 2009 19470904 Sequencing esv7441,esv9203,esv7466,esv9014,esv8689,esv7075 M 1 0 1 "" SJK esv6461 4 48815895 48815967 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28902 S 1 1 0 "" SJK esv9525 4 48817268 48817692 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31966 S 1 0 1 "" SJK esv1627624 4 48820429 48821547 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143278 S 2 0 1 "" HuRef esv1687416 4 48821553 48822067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215644 S 2 0 1 "" HuRef esv1519705 4 48822082 48823196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892401 S 2 0 1 "" HuRef nsv436753 4 48835165 48835659 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466093 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1748263 4 48835760 48838189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293591 S 2 0 1 "" HuRef esv7511 4 48837889 48844887 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29952 S 1 0 1 "" SJK esv8286 4 48841617 48841927 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30727 S 1 0 1 "" SJK esv5274 4 48846031 48846533 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27715 S 1 0 0 Single Asian sample YH "" YH esv6025 4 48846053 48846523 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28466 S 1 0 1 "" SJK esv3339 4 48846552 48847265 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25780 S 1 0 0 Single Asian sample YH "" YH dgv97e19 4 48846559 48852710 CNV Loss Ahn et al 2009 19470904 Sequencing esv8178,esv9651 M 1 0 1 "" SJK esv5419 4 48847757 48848440 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27860 S 1 0 0 Single Asian sample YH "" YH nsv829927 4 48855123 48941378 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443621 S 95 1 0 "" nsv10489 4 48855929 48857377 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13853,nssv13077 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18972,NA19132 esv1010961 4 48863077 48863077 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574499 S 3 1 0 "" HuRef esv2521092 4 48863190 48863258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258134 S 1 0 1 "" NA18507 esv5879 4 48863512 48863734 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28320 S 1 0 1 "" SJK nsv433364 4 48871540 49019760 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463245 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv829928 4 48920086 48975035 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443623,nssv1443622 M 95 2 0 "" nsv7360 4 48937007 49022276 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2464,nssv10405,nssv11083,nssv7082,nssv9640,nssv9392,nssv385,nssv4741 M 9 0 0 "" NA12156,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv29837 4 48949469 48968523 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18013 S 451 0 1 "" NA18916 nsv255 4 48959833 49005239 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv255 S 1 0 0 "" NA15510 nsv4331 4 48960038 49017254 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3253 S 9 0 1 "" NA12878 nsv436878 4 48963349 48980615 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466094 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv27646 4 48975057 49033632 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14545,esv17917,esv17171 M 451 1 7 "" NA06985,NA11993,NA12004,NA12006,NA12239,NA12414,NA12828,NA12878 nsv821320 4 48975057 49033632 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420411 S 1 1 0 "" NA10851 nsv4333 4 48981968 48984938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4742,nssv7081 M 9 2 0 "" NA12156,NA19129 esv6204 4 49004204 49010900 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28645 S 1 0 0 "" SJK nsv436450 4 49011804 49019811 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466096 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv8264 4 49012015 49018195 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30705 S 1 0 1 "" SJK dgv1619e1 4 49183699 49354874 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20256,essv6923 M 271 0 0 "" NA12144,NA18605 nsv433366 4 49184055 49345777 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463247 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv22965 4 49184065 49241554 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15980,esv17472,esv19410,esv9940,esv17406 M 451 5 2 "" NA12749,NA12828,NA12878,NA18505,NA18523,NA18916,NA19108 nsv829929 4 49184918 49238843 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443624 S 95 1 0 "" nsv7361 4 49188206 49286288 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11084,nssv7083,nssv9641,nssv4743,nssv3254,nssv387 M 9 0 0 "" NA12156,NA12878,NA15510,NA18507,NA19129,NA19240 nsv4334 4 49203567 49228298 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10406,nssv3256,nssv9642,nssv3255,nssv7084,nssv9393,nssv2466,nssv11086,nssv2465,nssv11085,nssv386 M 9 8 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19240 nsv256 4 49205292 49266242 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv256 S 1 0 0 "" NA15510 nsv436754 4 49206869 49209271 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466098 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436001 4 49206941 49207341 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466099 S 2 1 0 "" NA15510 nsv257 4 49207038 49208437 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv257 S 1 1 0 "" NA15510 nsv820870 4 49207177 49209483 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420412 S 1 1 0 "" NA10851 esv270016 4 49207769 49207854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516992 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 nsv258 4 49208856 49211147 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv258 S 1 1 0 "" NA15510 esv8304 4 49209585 49213437 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30745 S 1 0 1 "" SJK nsv436079 4 49209643 49210027 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466101 S 2 1 0 "" NA15510 nsv513132 4 49214161 49216826 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626625 S 1 0 1 "" 1 nsv513657 4 49216865 49221962 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626909 S 1 0 0 "" 1 nsv10491 4 49217216 49325547 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11896,nssv11926,nssv13913,nssv11646,nssv13124,nssv12951,nssv13148,nssv11835,nssv12086,nssv13212,nssv12184,nssv11672 M 31 0 11 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10863,NA12155,NA18502,NA18517,NA18537,NA18552,NA18860,NA18972,NA19007 nsv829930 4 49247603 49326349 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443625,nssv1443626 M 95 2 0 "" esv28768 4 49266101 49354671 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13561,esv14988 M 451 1 21 "" NA07037,NA11894,NA11931,NA11995,NA12004,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18508,NA18523,NA18861,NA18907,NA18916,NA19099,NA19108,NA19147,NA19225 nsv4335 4 49282395 49320566 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4672 S 9 0 1 "" NA19129 nsv829931 4 49296992 49326349 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443627,nssv1443630,nssv1443631 M 95 0 3 "" nsv820375 4 49328362 49354671 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420413 S 1 1 0 "" NA10851 esv7558 4 49328532 49340220 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29999 S 1 0 1 "" SJK esv2969 4 49330436 49341379 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25410 S 1 0 0 Single Asian sample YH "" YH esv8182 4 49332221 49336925 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30623 S 1 0 1 "" SJK esv1059084 4 49339436 49339491 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952228 S 2 0 1 "" HuRef esv1320151 4 49339555 49339645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363710 S 2 0 1 "" HuRef esv6534 4 49340011 49345764 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28975 S 1 0 1 "" SJK esv1041151 4 49341971 49342166 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691723 S 2 0 1 "" HuRef esv1059939 4 49342246 49342301 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830809 S 2 0 1 "" HuRef esv1498701 4 49343347 49343347 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355567 S 2 1 0 "" HuRef esv2850 4 49345093 49354836 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25291 S 1 0 0 Single Asian sample YH "" YH esv8671 4 49345645 49354291 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31112 S 1 0 1 "" SJK esv2624302 4 49345968 49346067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294265 S 1 0 1 "" NA18507 esv8750 4 49347551 49347666 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31191 S 1 1 0 "" SJK esv1545278 4 49349096 49349096 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772972 S 2 1 0 "" HuRef esv1695056 4 49349618 49349618 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222268 S 2 1 0 "" HuRef esv9539 4 49352700 49353973 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31980 S 1 0 1 "" SJK dgv1620e1 4 52354875 52532859 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3312,essv9420,essv10779,essv4815,essv11088,essv5203,essv5299,essv22088,essv14600,essv4430,essv15205,essv18950,essv16166,essv10566,essv7597,essv13692,essv7038,essv20350,essv9169,essv4145,essv11895,essv12302,essv19685,essv16824,essv16919,essv21021,essv16462,essv15779,essv4253,essv15842,essv18839,essv24057,essv11252,essv6277,esv169,essv19215,essv10889,essv22601,essv13852,essv12814,essv10372,essv23668,essv22503,essv12574,essv13029,essv17773,essv16785,essv21408,essv17888,essv1604,essv6690,essv12285,essv2043,essv7133,essv2876,essv14437,essv15984,essv22656,essv22473,essv14117,essv12460,essv22303,essv11757,essv2632,essv9095,essv10304 M 271 0 0 DCUN1D4 NA06985,NA06991,NA07348,NA10831,NA10838,NA10859,NA10863,NA11882,NA12003,NA12005,NA12154,NA12236,NA12264,NA12740,NA12751,NA12752,NA12761,NA18501,NA18504,NA18506,NA18523,NA18537,NA18545,NA18555,NA18573,NA18603,NA18608,NA18611,NA18612,NA18620,NA18624,NA18636,NA18854,NA18859,NA18861,NA18872,NA18942,NA18949,NA18953,NA18967,NA18972,NA19093,NA19094,NA19098,NA19100,NA19101,NA19119,NA19120,NA19128,NA19131,NA19132,NA19138,NA19139,NA19144,NA19201,NA19204,NA19205,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19240 nsv428444 4 52354875 52532859 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454488,nssv454491,nssv454482,nssv454492,nssv454490,nssv454489,nssv454484,nssv454481,nssv454480,nssv454483,nssv454485,nssv454486 M 62 12 0 DCUN1D4 HGDP00449,HGDP00460,HGDP00471,HGDP00478,HGDP00984,HGDP01086,HGDP01088,NA18498,NA19096,NA19113,NA19189,NA19225 esv22259 4 52354948 52378171 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14740 S 451 30 0 "" NA06985,NA07037,NA11894,NA12004,NA12006,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821016 4 52354948 52378229 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420415 S 1 0 1 "" NA10851 nsv829932 4 52478915 52634443 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443633,nssv1443634,nssv1443632 M 95 3 0 LRRC66,SGCB,SPATA18 nsv879011 4 52495853 52892954 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548982 S 6533 1 0 LRRC66,SGCB,SPATA18 MS17970 nsv10492 4 52520730 52522013 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11865 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 esv269372 4 52556339 52556424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517132 S 157 1 0 Samples from several populations that are part of the HapMap project. LRRC66 hapmap_pooled_sample_set nsv829933 4 52582673 52783404 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443635 S 95 1 0 SGCB,SPATA18 esv2522522 4 52598789 52600167 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191526 S 1 0 1 SGCB NA18507 esv259487 4 52642767 52643116 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394231,essv2393905,essv2393838,essv2393647,essv2394392 M 6 0 0 Samples from several populations that are part of the HapMap project. SPATA18 NA12878,NA12891,NA12892,NA19238,NA19240 esv260070 4 52642774 52643123 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400208,essv2400049,essv2399065,essv2396729,essv2400295,essv2398510,essv2401146,essv2400920,essv2398869,essv2395781,essv2396252,essv2400570,essv2398106,essv2399967,essv2396651,essv2398660,essv2396272,essv2395404,essv2399624,essv2399720,essv2397364,essv2401076,essv2396923,essv2395603,essv2397709,essv2397840,essv2396516,essv2399325,essv2396626,essv2395705,essv2396065,essv2400718,essv2394931,essv2400961,essv2396310,essv2399876,essv2395521,essv2400858,essv2397403,essv2399559,essv2395074,essv2397183,essv2399839,essv2397856,essv2396881,essv2398859,essv2400433,essv2398945,essv2398990,essv2400138,essv2399123,essv2396831,essv2395746,essv2394702,essv2398253,essv2394403,essv2396176,essv2395886,essv2397478,essv2395453,essv2398163,essv2397136,essv2400797,essv2397766,essv2399629,essv2394591,essv2397016,essv2398750,essv2395165,essv2398120,essv2398714,essv2395981,essv2400535,essv2394496 M 144 0 0 Samples from several populations that are part of the HapMap project. SPATA18 NA07037,NA07051,NA10851,NA11831,NA11881,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12043,NA12144,NA12156,NA12414,NA12489,NA12716,NA12749,NA12761,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18517,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18870,NA18909,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18964,NA18965,NA18973,NA19005,NA19108,NA19172,NA19190,NA19238,NA19240,NA19257 esv7897 4 52642835 52642886 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30338 S 1 1 0 SPATA18 SJK esv1364839 4 52642874 52642874 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614730 S 2 1 0 SPATA18 HuRef nsv879012 4 52671694 53115929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527115 S 6533 1 0 "" SP58166 nsv829934 4 52714280 52734863 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443636,nssv1443638,nssv1443637 M 95 0 3 "" esv2194077 4 52753532 52753933 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682484 S 1 0 1 "" NA18507 nsv4336 4 52756153 52788237 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7085 S 9 1 0 "" NA12156 esv2549914 4 52760364 52761136 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344162 S 1 1 0 "" NA18507 nsv512826 4 52760674 52761605 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625462 S 1 1 0 "" 1 nsv4337 4 52766341 52787298 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4744 S 9 0 1 "" NA19129 nsv509897 4 52827485 52833485 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623943,nssv621231,nssv618164 M 4 0 3 "" CHM,NA15510,NA18994 nsv526250 4 52847986 52860367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702522 S 2026 0 1 "" esv259587 4 52849736 52850018 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394143,essv2393746,essv2394070,essv2394400 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv259859 4 52849750 52850031 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399393,essv2397354,essv2395646,essv2397698,essv2396589,essv2395001,essv2400966,essv2398820,essv2395305,essv2398188,essv2397164,essv2400824,essv2394571,essv2398331,essv2395909,essv2397033,essv2400482 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12878,NA18501,NA18502,NA18507,NA18511,NA18547,NA18582,NA18916,NA18949,NA18951,NA18952,NA18965,NA19093,NA19238,NA19239,NA19240 esv5861 4 52849841 52849905 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28302 S 1 1 0 "" SJK esv998824 4 52849845 52849845 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575130 S 3 1 0 "" HuRef esv1552063 4 52849923 52849923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146747 S 2 1 0 "" HuRef nsv829935 4 52899960 53093806 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443643,nssv1443642,nssv1443641,nssv1443639,nssv1443649,nssv1443644,nssv1443648,nssv1443647,nssv1443646,nssv1443645,nssv1443652,nssv1443658,nssv1443650,nssv1443653,nssv1443657,nssv1443654,nssv1443655,nssv1443656 M 95 2 16 "" nsv4338 4 52900172 52934434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv388 S 9 1 0 "" NA19240 esv273924 4 52917168 52917429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579266 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271779 4 52917180 52917511 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571659,essv2542263,essv2522680,essv2571077,essv2556700,essv2545463,essv2523339,essv2577406,essv2521560,essv2576707,essv2535110,essv2554121,essv2551997,essv2547315,essv2559450,essv2576128,essv2561783,essv2539960,essv2520997,essv2557415,essv2557075,essv2552728,essv2569548,essv2578565,essv2549984,essv2558784,essv2536846,essv2538999,essv2544769,essv2562870,essv2565120,essv2539771,essv2541554,essv2553244,essv2572411,essv2541880,essv2568880,essv2543745,essv2556261,essv2539325,essv2534420,essv2529606,essv2575416,essv2575045,essv2538493,essv2526724,essv2524223,essv2574874,essv2530293,essv2568566,essv2545177,essv2560317,essv2549925,essv2571295,essv2545823,essv2536167 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11840,NA11919,NA11931,NA11993,NA11994,NA12003,NA12004,NA12043,NA12144,NA12154,NA12249,NA12287,NA12489,NA12717,NA12776,NA12814,NA12874,NA18489,NA18498,NA18499,NA18501,NA18502,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18526,NA18532,NA18558,NA18563,NA18592,NA18605,NA18609,NA18856,NA18861,NA18870,NA18871,NA18912,NA18959,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239 nsv291268 4 52917212 52917212 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309846 M 24 "" nsv507166 4 52920523 52926523 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622890,nssv621745 M 4 2 0 "" NA10860,NA18994 esv267927 4 52929366 52929708 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512546,essv2497183,essv2508236,essv2512740,essv2508134,essv2496046,essv2501642,essv2504896,essv2503143,essv2497921,essv2503564,essv2502426,essv2505489,essv2497409,essv2502645 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18552,NA18561,NA18577,NA18579,NA18603,NA18608,NA18942,NA18943,NA18945,NA18947,NA18948,NA18952,NA18959,NA18965 esv1668868 4 53026435 53026533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876724 S 2 0 1 "" HuRef nsv822559 4 53032985 53038782 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438761 S 31 0 1 "" NA18973 nsv524494 4 53154377 53276822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700432 S 2026 0 1 MIR4449,SNHG13,SNORA26,USP46 esv2105142 4 53193714 53194086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895024 S 1 0 1 USP46 NA18507 nsv292516 4 53323489 53328886 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311094 M 24 "" nsv525346 4 53490358 53490408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701464 S 2026 0 1 SCFD2 nsv508280 4 53519817 53602418 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622484 S 4 0 1 SCFD2 NA18994 esv267413 4 53546575 53546895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565801,essv2525849,essv2522812,essv2544126,essv2568324,essv2577606,essv2570415,essv2548590,essv2521642,essv2576604,essv2535093,essv2544288,essv2547330,essv2564460,essv2559429,essv2565562,essv2563985,essv2555131,essv2537286,essv2528363,essv2547019,essv2557175,essv2539045,essv2544668,essv2542937,essv2565038,essv2561065,essv2560119,essv2566256,essv2532637,essv2528924,essv2570179,essv2572442,essv2562209,essv2533767,essv2574052,essv2531511,essv2572096,essv2525721,essv2575178,essv2536305,essv2538133,essv2533261 M 157 43 0 Samples from several populations that are part of the HapMap project. SCFD2 NA06986,NA07000,NA07051,NA11829,NA11918,NA11931,NA11992,NA11995,NA12043,NA12044,NA12045,NA12144,NA12154,NA12249,NA12414,NA12717,NA12751,NA12776,NA12812,NA12828,NA12872,NA12878,NA12891,NA12892,NA18501,NA18519,NA18526,NA18550,NA18558,NA18562,NA18570,NA18572,NA18576,NA18579,NA18593,NA18609,NA18909,NA18944,NA18951,NA18961,NA18973,NA18980,NA19102 esv272915 4 53546575 53546895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581878,essv2582318,essv2583230 M 7 3 0 Samples from several populations that are part of the HapMap project. SCFD2 NA12878,NA12891,NA12892 nsv292479 4 53609620 53611664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311057 M 24 SCFD2 esv271316 4 53631679 53634816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516127 S 157 1 0 Samples from several populations that are part of the HapMap project. SCFD2 NA12873 nsv471810 4 53751713 53751830 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646091 M 0.167 95 SCFD2 esv1439510 4 53752329 53752329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648097 S 2 1 0 SCFD2 HuRef esv24249 4 53764260 53774471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17516 S 451 0 1 SCFD2 NA18909 esv2421791 4 53765718 53774999 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046521,essv5058882,essv5045398,essv5134392,essv5086956,essv5082501,essv5020476,essv5070108,essv5064039,essv5065188,essv5113139,essv5056666,essv5102734,essv5017777,essv5020198,essv5110176,essv5081617 M 1184 0 17 SCFD2 NA18518,NA18520,NA18853,NA18874,NA18875,NA18909,NA18911,NA18987,NA19144,NA19206,NA20344,NA20345,NA20346,NA20347,NA21390,NA21583,NA21741 nsv441876 4 53765718 53774999 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SCFD2 nsv514213 4 53768208 53774576 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627652 S 1414 0 0 SCFD2 nsv4339 4 53783349 53816311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7087 S 9 1 0 SCFD2 NA12156 nsv879013 4 53788474 53831985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502952 S 6533 0 1 SCFD2 SP51460 esv2019878 4 53914503 53914951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980538 S 1 0 1 SCFD2 NA18507 nsv507167 4 53916520 53922520 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620243 S 4 1 0 SCFD2 NA15510 nsv516916 4 54026463 54036103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654968,nssv677157 M 2026 0 2 LNX1 esv268131 4 54039296 54039690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494389,essv2501088,essv2506901 M 157 3 0 Samples from several populations that are part of the HapMap project. LNX1 NA18502,NA18516,NA19102 nsv829936 4 54062540 54250880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443659,nssv1443660 M 95 2 0 LNX1 esv28169 4 54070156 54073723 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21302 S 451 1 0 LNX1 NA19108 esv268900 4 54071948 54072033 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515641 S 157 1 0 Samples from several populations that are part of the HapMap project. LNX1 NA12815 esv272100 4 54110377 54110712 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541007,essv2546362,essv2526099,essv2536524,essv2522750,essv2570761,essv2556685,essv2568061,essv2523097,essv2577222,essv2535268,essv2547142,essv2564507,essv2577921,essv2565321,essv2530661,essv2537577,essv2528461,essv2521016,essv2557439,essv2556943,essv2578810,essv2550020,essv2569833,essv2541363,essv2524657,essv2522308,essv2566093,essv2528909,essv2553338,essv2566771,essv2541959,essv2551007,essv2555475,essv2529866,essv2574038,essv2522491,essv2531591,essv2575053,essv2526451,essv2524012,essv2536032,essv2537744,essv2548859,essv2554365,essv2547742,essv2563421 M 157 47 0 Samples from several populations that are part of the HapMap project. LNX1 NA06986,NA07000,NA07037,NA07346,NA07347,NA10847,NA11831,NA11881,NA11918,NA11920,NA11931,NA11993,NA11994,NA11995,NA12004,NA12043,NA12249,NA12717,NA12751,NA12761,NA12812,NA12873,NA12878,NA12891,NA18498,NA18499,NA18501,NA18510,NA18511,NA18520,NA18545,NA18555,NA18571,NA18572,NA18579,NA18605,NA18853,NA18856,NA18858,NA18943,NA18949,NA18951,NA18960,NA18961,NA19102,NA19114,NA19129 esv274190 4 54110380 54110713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581983,essv2582513 M 7 2 0 Samples from several populations that are part of the HapMap project. LNX1 NA12878,NA12891 esv1673226 4 54110411 54110411 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765273 S 2 1 0 LNX1 HuRef nsv437918 4 54145932 54178326 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468272 S 269 0 1 Samples from several populations that are part of the HapMap project. LNX1 NA12802 nsv879014 4 54146003 54156305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522552 S 6533 0 1 LNX1 SP53252 nsv4340 4 54184405 54217338 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7088 S 9 1 0 "" NA12156 nsv10493 4 54184914 54194357 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12050 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 esv21849 4 54236744 54238060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15022 S 451 0 1 "" NA12828 esv2439697 4 54259730 54262986 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297094 S 1 0 1 "" NA18507 esv1996882 4 54260461 54262756 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699822 S 1 0 1 "" NA18507 esv22364 4 54286149 54297966 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15357 S 451 1 0 "" NA11995 nsv879015 4 54291223 54360316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582739,nssv1581632 M 6533 0 2 "" IS35675,IS36131 nsv521350 4 54316472 54324019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697960 S 2026 0 1 "" nsv527173 4 54320985 54324019 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703568 S 2026 0 1 "" nsv527672 4 54320985 54331958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704147 S 2026 0 1 "" nsv879016 4 54332975 54405709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561733 S 6533 0 1 "" MS25205 esv26873 4 54348006 54403811 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19126 S 451 1 0 "" NA12156 nsv879017 4 54351705 54478962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553341 S 6533 0 1 "" MS19941 nsv879018 4 54409510 54725132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556253 S 6533 0 1 CHIC2,GSX2,RPL21P44 MS21868 esv1641701 4 54446077 54446077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292516 S 2 1 0 "" HuRef esv1113554 4 54446140 54446191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987017 S 2 0 1 "" HuRef nsv879019 4 54560881 54588036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503273 S 6533 0 1 CHIC2 SP52020 nsv291450 4 54641696 54645883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310028 M 24 "" nsv879020 4 54681669 54759330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554822 S 6533 0 1 "" MS21020 nsv523058 4 54713374 54740473 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698742 S 2026 0 1 "" esv1665193 4 54715826 54715826 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003033 S 2 1 0 "" HuRef nsv4341 4 54866842 54912412 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7089 S 9 0 1 "" NA12156 nsv4342 4 54872875 54882369 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7954 S 9 1 0 "" NA12156 esv2421762 4 54914287 54915112 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5065603,essv5015165,essv5011741,essv5099541,essv5148540,essv5043113,essv5154829,essv5157131,essv5143934,essv5125996,essv5101653,essv5130909,essv5039455,essv5154079,essv5025120,essv5093889,essv5036709,essv5155263,essv5008617,essv5153488,essv5149684,essv5052414,essv5135421,essv5003210,essv5125242,essv5058084,essv5050205,essv5120311,essv5084671,essv5116948,essv5030408,essv5040490,essv5117016,essv5089419,essv5053140,essv5114438,essv5148242,essv5064777,essv5119495,essv5016326,essv5020305,essv5006111,essv5081360,essv5050952,essv5105113,essv5045700,essv5137019,essv5161224,essv5040657,essv5005612,essv5142084,essv5019469,essv5108148,essv5062260,essv5019021,essv5053291,essv5152552,essv5157359,essv5040460,essv5014785,essv5034622,essv5135248,essv5145987,essv5057684,essv5075190,essv5055053,essv5029121,essv5048736,essv5007875,essv5138738,essv5034389,essv5071447,essv5090499,essv5128021,essv5159753,essv5079865,essv5048836,essv5134580,essv5052988,essv5026420,essv5015262,essv5144630,essv5038591,essv5012283,essv5135854,essv5057873,essv5151592,essv5026184 M 1184 0 88 "" NA18484,NA18485,NA18486,NA18487,NA18497,NA18499,NA18501,NA18515,NA18516,NA18520,NA18855,NA18861,NA18934,NA18935,NA19035,NA19038,NA19044,NA19046,NA19101,NA19117,NA19122,NA19123,NA19160,NA19171,NA19174,NA19182,NA19190,NA19191,NA19192,NA19194,NA19200,NA19202,NA19204,NA19213,NA19215,NA19223,NA19257,NA19258,NA19318,NA19321,NA19328,NA19346,NA19396,NA19399,NA19429,NA19434,NA19444,NA19445,NA19462,NA19463,NA19703,NA19705,NA19712,NA19908,NA19919,NA20281,NA20287,NA20288,NA20294,NA20300,NA20301,NA21312,NA21336,NA21364,NA21367,NA21368,NA21370,NA21378,NA21418,NA21476,NA21477,NA21493,NA21494,NA21523,NA21525,NA21574,NA21575,NA21596,NA21597,NA21611,NA21616,NA21617,NA21620,NA21632,NA21650,NA21716,NA21718,NA21722 nsv517784 4 54914287 54915112 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675908,nssv659784,nssv692175,nssv662175,nssv672426,nssv679119,nssv671786,nssv681785,nssv665974,nssv677282,nssv672085,nssv686725,nssv689767,nssv682454,nssv651731,nssv666054,nssv657370,nssv660903,nssv666951,nssv668215,nssv665232,nssv693109,nssv683864,nssv676184 M 2026 0 24 "" esv29527 4 54914301 54915115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15675 S 451 0 3 "" NA18861,NA19190,NA19257 nsv4344 4 54955364 54999992 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7955 S 9 0 1 "" NA12156 esv2591875 4 54982477 54983917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346487 S 1 0 1 "" NA18507 nsv471812 4 55015851 55015923 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646093 M 0.210 95 "" nsv290933 4 55111104 55111203 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309511 M 24 "" esv2353533 4 55121264 55121704 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659696 S 1 0 1 "" NA18507 nsv521933 4 55144373 55206823 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694702 S 2026 1 0 "" esv2424175 4 55176394 55177868 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273808 S 1 0 1 "" NA18507 esv2309987 4 55177006 55177686 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921819 S 1 0 1 "" NA18507 esv5273 4 55177112 55177572 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27714 S 1 0 1 Single Asian sample YH "" YH nsv291726 4 55177194 55177514 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310304 M 24 "" nsv526344 4 55217245 55925876 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702636 S 2026 1 0 KDR,KIT,SRD5A3 esv275209 4 55244542 55245375 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585156,essv2586048 M 1250 1 1 KIT esv275029 4 55266518 55277220 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585733,essv2585357 M 1250 1 1 KIT dgv144n6 4 55272573 55272649 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289421,nsv290717 M 24 KIT nsv4345 4 55339254 55373358 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7956 S 9 1 0 "" NA12156 nsv509898 4 55482469 55488469 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623944 S 4 0 1 "" NA18994 esv1010982 4 55496880 55503160 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564075 S 3 0 1 "" HuRef esv2521332 4 55502919 55504393 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295050 S 1 0 1 "" NA18507 esv1933088 4 55503248 55503870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756767 S 1 0 1 "" NA18507 esv5008 4 55503400 55503818 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27449 S 1 0 1 Single Asian sample YH "" YH dgv145n6 4 55503432 55503686 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289510,nsv290195 M 24 "" nsv829938 4 55531721 55552650 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443664,nssv1443663,nssv1443661,nssv1443666,nssv1443665,nssv1443667 M 95 0 6 "" nsv829939 4 55551528 55699768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443668 S 95 1 0 KDR esv1678889 4 55554963 55554963 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959912 S 2 1 0 "" HuRef nsv524342 4 55586288 55616292 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700249 S 2026 1 0 "" nsv291458 4 55693328 55693661 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310036 M 24 "" esv2321267 4 55736112 55736556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555494 S 1 0 1 "" NA18507 esv23054 4 55960878 55962701 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20248 S 451 0 5 TMEM165 NA18502,NA18523,NA18861,NA19147,NA19225 esv5988 4 56001265 56001348 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28429 S 1 1 0 CLOCK SJK nsv10496 4 56031703 56535894 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12363 S 31 0 1 Samples from several populations that are part of the HapMap project. CEP135,CLOCK,EXOC1,LOC644145,NMU,PDCL2 NA07048 esv269816 4 56066667 56067020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514588,essv2516804,essv2515903,essv2514374,essv2517728,essv2513749 M 157 6 0 Samples from several populations that are part of the HapMap project. CLOCK NA07347,NA11840,NA11881,NA12873,NA12874,NA12878 esv273628 4 56066667 56067020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581594 S 7 1 0 Samples from several populations that are part of the HapMap project. CLOCK NA12878 esv1694176 4 56066719 56066719 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028626 S 2 1 0 CLOCK HuRef esv269179 4 56115698 56115783 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517406 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 esv272599 4 56147862 56148170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580420,essv2579985 M 7 2 0 Samples from several populations that are part of the HapMap project. PDCL2 NA12891,NA12892 nsv509899 4 56170698 56176698 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621232,nssv623945 M 4 0 2 NMU NA15510,NA18994 nsv879021 4 56177507 56343470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534106 S 6533 0 1 NMU MS11467 esv32833 4 56222580 56229797 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100686 S 51 1 0 "" 21656 nsv4346 4 56283608 56325867 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7957,nssv2467,nssv3257,nssv389 M 9 4 0 "" NA12156,NA12878,NA18555,NA19240 nsv509004 4 56298542 56344805 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623413,nssv619374 M 4 2 0 "" NA10860,NA18994 esv22335 4 56304215 56305339 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14604 S 451 2 0 "" NA11894,NA12239 esv1006045 4 56304720 56306976 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565414 S 3 1 0 "" HuRef nsv879022 4 56312641 56363188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585343 S 6533 0 1 "" IS37428 esv1761718 4 56317323 56317323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639297 S 2 1 0 "" HuRef nsv879023 4 56320225 56350545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570611 S 6533 0 1 "" IS32289 nsv526956 4 56323282 56323409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703328 S 2026 0 1 "" nsv518650 4 56323282 56325113 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696099 S 2026 0 1 "" esv271947 4 56373054 56373406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512255,essv2501034,essv2498461,essv2501342,essv2507008,essv2511933 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18856,NA18858,NA19093,NA19102,NA19238 esv273438 4 56373068 56373385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580717,essv2578883 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv270904 4 56391514 56391853 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496161,essv2506605,essv2498906,essv2497096 M 157 4 0 Samples from several populations that are part of the HapMap project. LOC644145 NA18511,NA19108,NA19138,NA19190 nsv879024 4 56436962 56481346 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566071 S 6533 1 0 EXOC1 IS30580 nsv879025 4 56436962 56503364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543218,nssv1574387 M 6533 2 0 EXOC1 IS33552,MS16107 esv2653807 4 56553079 56554512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217604 S 1 0 1 CEP135 NA18507 esv2641155 4 56618263 56619774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312824 S 1 0 1 "" NA18507 nsv818233 4 56761358 56766396 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417322 S 112 1 0 KIAA1211 NA18608 nsv829940 4 56767098 56957487 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443669 S 95 1 0 AASDH,KIAA1211,PPAT nsv518368 4 56826804 56834998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695794 S 2026 0 1 KIAA1211 nsv293732 4 56845242 56847448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312310 M 24 KIAA1211 esv267557 4 56952903 56953223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526161,essv2552053,essv2559466,essv2544802,essv2523738,essv2553054,essv2541352,essv2540556,essv2524485,essv2564788,essv2549272,essv2519810,essv2531179,essv2567647,essv2541549,essv2563603,essv2553430,essv2556030,essv2534313,essv2549891,essv2536345,essv2525136 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11918,NA12489,NA12776,NA18526,NA18537,NA18542,NA18545,NA18552,NA18555,NA18558,NA18564,NA18566,NA18573,NA18582,NA18592,NA18603,NA18605,NA18956,NA18959,NA19225 nsv4347 4 56956161 56975352 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7958 S 9 0 1 PPAT NA12156 nsv829941 4 57054308 57247893 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443670 S 95 0 1 ARL9,HOPX,SRP72 nsv829942 4 57130048 57292993 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443671 S 95 1 0 HOPX esv2634408 4 57195510 57197046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214521 S 1 0 1 "" NA18507 esv2334754 4 57196456 57196920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977707 S 1 0 1 "" NA18507 esv4115 4 57196477 57196945 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26556 S 1 0 1 Single Asian sample YH "" YH nsv4348 4 57222438 57255707 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv390 S 9 0 1 HOPX NA19240 dgv87n17 4 57227102 57241728 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437381,nsv437378,nsv437379,nsv437377 M 60 0 4 HOPX NA19132,NA19142,NA19145,NA19240 nsv822560 4 57228151 57228904 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424136 S 31 1 0 HOPX NA18582 nsv10497 4 57229621 57233914 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13333 S 31 0 1 Samples from several populations that are part of the HapMap project. HOPX NA18504 esv24874 4 57231959 57233130 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19687 S 451 0 1 HOPX NA19190 nsv10498 4 57233914 57239840 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12088,nssv12511,nssv13137 M 31 0 3 Samples from several populations that are part of the HapMap project. HOPX NA19132,NA19144,NA19240 nsv499041 4 57234723 57239493 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585902 S 9 0 1 HOPX nsv514214 4 57234928 57239000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627653 S 1414 0 1 HOPX esv24352 4 57234975 57239248 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12279 S 451 0 1 HOPX NA19240 esv2421872 4 57235994 57239788 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046099,essv5020940,essv5077476,essv5107345,essv5098021,essv5118556,essv5100649,essv5060625,essv5030460,essv5056043,essv5070756,essv5013282,essv5094664,essv5040088,essv5144721,essv5080314,essv5138899,essv5137986,essv5099133,essv5035362,essv5115983,essv5006460,essv5114894,essv5104480,essv5104640,essv5049463,essv5125416,essv5097088,essv5046194,essv5058418,essv5038864,essv5100840,essv5040761,essv5075059,essv5076015,essv5006122,essv5004091,essv5131946 M 1184 0 38 HOPX NA18486,NA18489,NA18855,NA18913,NA18933,NA18935,NA19028,NA19121,NA19130,NA19132,NA19141,NA19142,NA19144,NA19182,NA19184,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19209,NA19211,NA19224,NA19226,NA19236,NA19238,NA19240,NA19247,NA19249,NA19385,NA19439,NA19468,NA19665,NA19681,NA19683,NA20287,NA20288 nsv442904 4 57238077 57239259 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HOPX nsv291720 4 57246851 57246851 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310298 M 24 "" nsv518984 4 57425946 57426203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696452 S 2026 0 1 "" nsv822561 4 57430878 57442624 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424137 S 31 1 0 "" NA18582 nsv4349 4 57432389 57462393 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4745 S 9 1 0 "" NA19129 nsv292140 4 57437324 57437375 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310718 M 24 "" nsv523211 4 57443837 57456174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698931 S 2026 0 1 "" nsv822562 4 57463412 57474472 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426591 S 31 1 0 REST AK6 esv22393 4 57467027 57470341 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12676 S 451 0 2 REST NA07045,NA12156 nsv879026 4 57736508 57793311 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598062 S 6533 1 0 LOC255130 IS41066 esv25139 4 57744958 57795447 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14052 S 451 1 0 LOC255130 NA12414 dgv1621e1 4 57748174 58349780 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23324,essv19656,esv750 M 271 0 0 LOC255130 NA12264 nsv517760 4 57750017 57798918 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672712,nssv662415,nssv703294,nssv653145,nssv701642,nssv696768 M 2026 3 3 LOC255130 dgv652n27 4 57750017 57800445 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461363,nsv461370,nsv461369,nsv461362,nsv461371,nsv461367,nsv461364,nsv461360,nsv461368,nsv461365,nsv461366 M 1557 11 0 LOC255130 1780854338_A,1780854574_A,1780854584_A,1780862162_A,1780862227_A,1782681217_A,1798860114_A,HGDP00529,HGDP01073,HGDP01147,NINDS_90 nsv10499 4 57754831 57757186 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13154 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC255130 NA18517 nsv524655 4 57776347 58398267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700622 S 2026 0 1 "" esv2546152 4 57781671 57783347 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305326 S 1 0 1 "" NA18507 nsv509900 4 57781672 57787672 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618165 S 4 0 1 "" CHM esv2191433 4 57781902 57782673 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652802 S 1 0 1 "" NA18507 esv1010776 4 57782026 57782761 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564580 S 3 0 1 "" HuRef esv4429 4 57782044 57782564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26870 S 1 0 1 Single Asian sample YH "" YH dgv146n6 4 57782094 57782500 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292450,nsv290543 M 24 "" esv6258 4 57782100 57782489 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28699 S 1 0 1 "" SJK esv1007156 4 57782100 57782497 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579278 S 3 0 1 "" HuRef esv2651945 4 57821130 57821529 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355790 S 1 1 0 "" NA18507 esv1469171 4 57821434 57821434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205110 S 2 1 0 "" HuRef nsv10500 4 57829381 57834004 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14160,nssv12981 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19221 esv34933 4 57834154 58264829 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986711,essv6978798,essv6978797 M 771 1 0 "" NA12264 dgv320n21 4 57834727 58299738 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526977,nsv526142 M 2026 2 0 "" nsv818235 4 57836124 58261378 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417339 S 112 1 0 "" NA12264 esv2571667 4 57842176 57843796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226643 S 1 0 1 "" NA18507 esv1004045 4 57842331 57843274 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564392 S 3 0 1 "" HuRef esv2104680 4 57842583 57843308 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897928 S 1 0 1 "" NA18507 esv3777 4 57842700 57843242 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26218 S 1 0 1 Single Asian sample YH "" YH esv998515 4 57842787 57843112 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571823 S 3 0 1 "" HuRef esv1563587 4 57842787 57843113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977593 S 2 0 1 "" HuRef esv6499 4 57842788 57843102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28940 S 1 0 1 "" SJK nsv526928 4 57851013 57865117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703295 S 2026 0 1 "" nsv10501 4 57853764 57855669 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11842 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 esv2333821 4 57855529 57855940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498986 S 1 0 1 "" NA18507 esv1705963 4 57900107 57900242 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178447 S 2 0 1 "" HuRef nsv4350 4 57927812 57972550 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7959 S 9 0 1 "" NA12156 nsv10502 4 57944627 57960983 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12146,nssv13943,nssv11956 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18552,NA18972,NA19007 nsv822563 4 57950917 57956655 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422544 S 31 0 1 "" NA18552 nsv514215 4 57951116 57952868 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627654 S 1414 0 1 "" nsv441877 4 57951132 57953111 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422078 4 57951132 57956485 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5137785,essv5003888,essv5047707,essv5112848,essv5082234,essv5142649,essv5088789,essv5110158,essv5111554,essv5061908,essv5015861,essv5131907,essv5161166,essv5114315,essv5138973,essv5070046,essv5142223,essv5093951,essv5116388,essv5009924,essv5021248,essv5077628,essv5138402,essv5114603,essv5054305,essv5075793,essv5081061,essv5012939,essv5086886,essv5025741,essv5079521,essv5101690,essv5123328,essv5045229,essv5147291,essv5126921,essv5146782,essv5160595,essv5075111,essv5102566,essv5013547,essv5013163,essv5127136,essv5142729,essv5046816,essv5101555,essv5096524,essv5076918,essv5048943,essv5094552,essv5129530,essv5049867,essv5062095,essv5012599,essv5015430 M 1184 0 55 "" NA07014,NA07051,NA12003,NA17962,NA17975,NA17980,NA17982,NA17995,NA17996,NA17997,NA18102,NA18107,NA18108,NA18112,NA18114,NA18122,NA18131,NA18132,NA18146,NA18548,NA18552,NA18576,NA18602,NA18614,NA18623,NA18626,NA18633,NA18674,NA18702,NA18945,NA18946,NA18962,NA18966,NA18967,NA18970,NA18972,NA18974,NA18979,NA19007,NA19054,NA19058,NA19068,NA19070,NA19072,NA19074,NA19077,NA19080,NA19656,NA19658,NA19659,NA19660,NA19678,NA19685,NA19776,NA19789 nsv10503 4 57990587 57992219 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28987 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12802 nsv522794 4 58016698 58045573 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698438 S 2026 1 0 "" nsv829943 4 58127503 58256409 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443672 S 95 0 1 "" nsv436405 4 58179707 58186543 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466102 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2439641 4 58180309 58186244 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363063 S 1 0 1 "" NA18507 nsv436938 4 58190352 58210076 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466819 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10838 nsv509901 4 58207076 58213076 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618166,nssv622054,nssv621233,nssv623946 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv507168 4 58260321 58266321 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621746,nssv620245,nssv622891 M 4 3 0 "" NA10860,NA15510,NA18994 esv24176 4 58261890 58267784 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15529 S 451 1 4 "" NA06985,NA12156,NA18858,NA19129,NA19240 essv20973 4 58284180 58300699 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10863 nsv10504 4 58298218 58321053 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13242 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv879027 4 58350680 58662517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591222 S 6533 1 0 "" IS38654 nsv879028 4 58356984 58463211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536976 S 6533 1 0 "" MS13045 esv28757 4 58415137 58433442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18726,esv14595,esv11924 M 451 0 19 "" NA07045,NA12004,NA12156,NA12776,NA15510,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv2502293 4 58415449 58420959 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310697 S 1 0 1 "" NA18507 esv1431213 4 58416909 58416909 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200940 S 2 1 0 "" HuRef nsv819473 4 58417022 58418102 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418841,nssv1418820 M 2 0 1 "" AK1 nsv819629 4 58417351 58418605 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418865 S 2 0 1 "" AK1 nsv820669 4 58417352 58418729 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420416 S 1 0 1 "" NA10851 esv1388085 4 58417724 58417724 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938345 S 2 1 0 "" HuRef esv1005205 4 58418187 58418731 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586839 S 3 1 0 "" HuRef nsv528535 4 58443236 58453583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705146 S 2026 0 1 "" esv2616107 4 58466883 58468467 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271571 S 1 0 1 "" NA18507 nsv435795 4 58506344 58515900 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466103 S 2 0 1 "" NA15510 esv28777 4 58506649 58513183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13489 S 451 0 2 "" NA12004,NA15510 nsv879029 4 58517291 58608257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558357 S 6533 0 1 "" MS23237 nsv4351 4 58518134 58545478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7960 S 9 1 0 "" NA12156 nsv524083 4 58527617 58530628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699952 S 2026 0 1 "" esv275104 4 58560063 58565348 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586100,essv2585597 M 1250 1 1 "" esv2515446 4 58581059 58583314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298597 S 1 0 1 "" NA18507 esv2337662 4 58581867 58583279 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768681 S 1 0 1 "" NA18507 esv1007722 4 58581984 58583707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564637 S 3 0 1 "" HuRef esv4372 4 58582000 58583166 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26813 S 1 0 1 Single Asian sample YH "" YH esv7421 4 58582033 58583087 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29862 S 1 0 1 "" SJK nsv518417 4 58617445 58628093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695852 S 2026 0 1 "" esv21882 4 58656528 58657047 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16813 S 451 5 0 "" NA12004,NA12156,NA12239,NA18511,NA18523 esv25043 4 58669641 58670481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11425 S 451 0 1 "" NA06985 esv271749 4 58671060 58671175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510114,essv2503233,essv2495444,essv2511377,essv2495249,essv2505141,essv2512448,essv2499492,essv2508082,essv2501702,essv2505547,essv2495365,essv2503398,essv2508359,essv2502520,essv2494180,essv2493240,essv2496450,essv2493590,essv2498298,essv2500399,essv2494617,essv2500003,essv2508235,essv2506344,essv2494405,essv2508106,essv2510062,essv2499270,essv2501606,essv2503137,essv2502462,essv2512297,essv2500480,essv2495119,essv2502736,essv2512800,essv2505606,essv2504813,essv2497664,essv2504347 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11829,NA11881,NA11919,NA11920,NA11992,NA11995,NA12043,NA12044,NA12045,NA12144,NA12154,NA12287,NA12716,NA12749,NA12750,NA18502,NA18504,NA18510,NA18517,NA18526,NA18537,NA18550,NA18558,NA18561,NA18566,NA18572,NA18579,NA18593,NA18605,NA18608,NA18943,NA18948,NA18949,NA18956,NA18964,NA18965,NA18980,NA19005,NA19099,NA19147 nsv829944 4 58746736 58916984 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443674 S 95 0 1 "" nsv526610 4 58766242 58767429 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702930 S 2026 0 1 "" nsv520956 4 58863520 58871832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693041,nssv678537,nssv688843,nssv687756 M 2026 0 4 "" nsv879030 4 59074453 59243625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555926 S 6533 0 1 "" MS21717 esv2810 4 59123720 59130349 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25251 S 1 0 1 Single Asian sample YH "" YH nsv829945 4 59127430 59313791 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443675 S 95 0 1 "" nsv879031 4 59128867 59597726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556573 S 6533 0 1 "" MS22104 nsv879032 4 59135784 59368407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598613 S 6533 0 1 "" IS41113 esv275358 4 59156422 59166365 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585148,essv2585116 M 1250 1 1 "" esv1087597 4 59196310 59196310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891418 S 2 1 0 "" HuRef nsv879033 4 59216412 59326055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593617 S 6533 0 1 "" IS39464 nsv879034 4 59260346 59365040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579811 S 6533 0 1 "" IS35181 dgv5543n71 4 59260346 59423917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879035,nsv879037,nsv879040,nsv879038 M 6533 0 5 "" IS31205,IS31330,IS35145,IS37226,IS39944 dgv5544n71 4 59260346 59491855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879036,nsv879039 M 6533 0 2 "" IS31041,IS32167 nsv290922 4 59302434 59302751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309500 M 24 "" nsv879041 4 59316610 59482518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520556,nssv1521239 M 6533 2 0 "" SP51142,SP52303 nsv470035 4 59326055 59423916 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546310 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01412 dgv5545n71 4 59328501 59482518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879044,nsv879042,nsv879043 M 6533 0 5 "" IS31581,IS40067,MS11467,MS15199,MS22580 esv1002447 4 59491250 59491731 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586792 S 3 0 1 "" HuRef esv1696720 4 59491618 59491618 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090849 S 2 1 0 "" HuRef nsv293234 4 59506988 59507041 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311812 M 24 "" nsv292261 4 59507014 59507067 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310839 M 24 "" dgv5546n71 4 59572493 59687896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879047,nsv879045,nsv879046 M 6533 0 3 "" IS31094,IS31137,IS35083 nsv829946 4 59596366 59766462 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443676 S 95 0 1 "" nsv4352 4 59608377 59648599 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3258,nssv4746 M 9 0 2 "" NA12878,NA19129 esv2635604 4 59626113 59633561 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296674 S 1 0 1 "" NA18507 nsv435802 4 59626459 59633182 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466104 S 2 0 1 "" NA15510 nsv513133 4 59626800 59634696 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626626 S 1 0 1 "" 1 esv2145547 4 59626965 59633387 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949565 S 1 0 1 "" NA18507 esv7384 4 59627149 59633202 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29825 S 1 0 1 "" SJK nsv499042 4 59627154 59633203 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585903 S 9 0 1 "" esv259913 4 59656394 59670991 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400228,essv2396717,essv2397596 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11831,NA12044 esv2421457 4 59656666 59670704 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018681,essv5086756,essv5007768,essv5115737,essv5035372,essv5118704,essv5036061,essv5077831,essv5096284,essv5022326,essv5003773,essv5147158,essv5078872,essv5152813,essv5097878,essv5003203,essv5013566,essv5109691,essv5040897,essv5143412,essv5056237,essv5104291,essv5015738,essv5084087,essv5008711,essv5048633,essv5113759,essv5143442,essv5027133,essv5149770,essv5120713,essv5019183,essv5032499,essv5126543,essv5106670,essv5047453,essv5153226 M 1184 37 0 "" NA06995,NA07037,NA10854,NA10855,NA11831,NA11839,NA12005,NA12043,NA12044,NA12344,NA12348,NA12399,NA12708,NA12718,NA12818,NA12843,NA19651,NA19670,NA19682,NA19725,NA19727,NA19761,NA20528,NA20529,NA20588,NA20755,NA20773,NA20795,NA20799,NA20800,NA20801,NA20802,NA20812,NA20852,NA20911,NA21098,NA21109 nsv441879 4 59656670 59670688 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv29648 4 59659986 59670851 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18375 S 451 1 0 "" NA07037 nsv515507 4 59660727 59670690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653374,nssv664534 M 2026 2 0 "" nsv526492 4 59660727 59681291 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702801 S 2026 1 0 "" nsv514216 4 59663020 59670680 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627655 S 1414 1 0 "" esv2268484 4 59667803 59668274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526427 S 1 0 1 "" NA18507 esv3228 4 59667940 59668153 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25669 S 1 0 1 Single Asian sample YH "" YH esv1007850 4 59667982 59668088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578060 S 3 0 1 "" HuRef esv1204428 4 59667982 59668089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927348 S 2 0 1 "" HuRef nsv879048 4 59736384 60194938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591223 S 6533 1 0 "" IS38654 nsv879049 4 59847184 59899254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580073 S 6533 0 1 "" IS35229 esv2522045 4 59943669 59945108 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323617 S 1 0 1 "" NA18507 esv21619 4 59971467 59976998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14505,esv14969 M 451 0 3 "" NA12004,NA18523,NA19190 nsv822565 4 59973917 59975095 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428988,nssv1433595 M 31 0 2 "" AK12,NA18526 dgv5547n71 4 59989095 60125085 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879051,nsv879050 M 6533 2 0 "" MS21038,SP80937 esv25487 4 60007499 60013530 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13447 S 451 2 0 "" NA07037,NA15510 nsv515009 4 60007524 60012992 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628508 S 1414 0 0 "" nsv441880 4 60007544 60013040 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1136882 4 60058669 60058669 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653900 S 2 1 0 "" HuRef nsv507169 4 60063727 60069727 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622892 S 4 1 0 "" NA18994 esv1154587 4 60067312 60067490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334840 S 2 0 1 "" HuRef nsv879052 4 60141415 60221144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524932,nssv1520971 M 6533 0 2 "" SP51355,SP55388 esv2152950 4 60271508 60271951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932609 S 1 0 1 "" NA18507 dgv5548n71 4 60278154 60434463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879055,nsv879053,nsv879058,nsv879056,nsv879057 M 6533 0 8 "" IS31205,IS31729,IS32150,IS32615,IS33600,IS41113,MS18648,MS18978 nsv879054 4 60278154 60452948 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585424 S 6533 1 0 "" IS37450 nsv4353 4 60374328 60393231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9643 S 9 1 0 "" NA18507 nsv4355 4 60493762 60529176 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3259 S 9 1 0 "" NA12878 esv29419 4 60498806 60500358 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15830,esv17833 M 451 3 1 "" NA12239,NA15510,NA18517,NA19108 esv3667 4 60498934 60500588 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26108 S 1 0 1 Single Asian sample YH "" YH esv5771 4 60498975 60500503 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28212 S 1 0 1 "" SJK nsv879059 4 60511594 60601506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568276 S 6533 0 1 "" IS31228 nsv428445 4 60520203 60701255 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454494,nssv454496,nssv454500,nssv454502,nssv454497,nssv454495,nssv454499,nssv454501 M 62 8 0 "" HGDP00462,HGDP00463,HGDP00476,HGDP00986,HGDP01086,HGDP01087,HGDP01088,NA19096 nsv879060 4 60571615 60694448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564123 S 6533 0 1 "" IS30171 nsv829947 4 60605549 60769029 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443677 S 95 0 1 "" nsv470036 4 60623627 60800483 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546311 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 esv270592 4 60660641 60660973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503353,essv2509994,essv2512935,essv2511699,essv2503733,essv2495107 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18593,NA18609,NA18940,NA18960,NA18964 nsv461373 4 60689910 60800483 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537764 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv879061 4 60712192 60992966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550798 S 6533 0 1 "" MS18620 esv271168 4 60738568 60738892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2529308,essv2558533,essv2577677,essv2537676,essv2528291,essv2544609,essv2523882,essv2542675,essv2549132,essv2519828,essv2559782,essv2522077,essv2530966,essv2567494,essv2541818,essv2535713,essv2572383,essv2573130,essv2555453,essv2533692,essv2566569,essv2573876,essv2555797,essv2577159,essv2526529,essv2568720 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA12749,NA12750,NA12761,NA12878,NA12891,NA18526,NA18537,NA18550,NA18564,NA18566,NA18570,NA18571,NA18573,NA18582,NA18592,NA18608,NA18609,NA18942,NA18943,NA18944,NA18948,NA18951,NA18956,NA18970,NA19114,NA19147 esv274501 4 60738569 60738895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582253,essv2582528 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv1622e1 4 60813753 60999844 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20017,esv289 M 271 0 0 "" NA07048 nsv879062 4 60816794 60966165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561832 S 6533 0 1 "" MS25250 nsv879063 4 60846313 60893363 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537661 S 6533 0 1 "" MS13292 nsv4356 4 60892345 60915231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9394 S 9 1 0 "" NA18517 nsv291563 4 60916472 60918676 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310141 M 24 "" nsv10505 4 60924712 60926168 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13363,nssv12148 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA19144 nsv879064 4 60952067 61048313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581067 S 6533 0 1 "" IS35498 dgv5549n71 4 60956935 61048313 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879072,nsv879068,nsv879065,nsv879071,nsv879069,nsv879070 M 6533 35 0 "" IS30076,IS30372,IS30564,IS31066,IS31142,IS31587,IS31651,IS32518,IS34518,IS34555,IS34645,IS34760,IS35073,IS35114,IS35260,IS35742,IS36269,IS37044,IS37270,IS38054,IS38269,IS38330,IS38538,IS38642,IS39000,IS39316,IS40222,IS40272,IS40612,IS40729,IS40838,IS40907,IS41452,MS18873,MS24245 nsv879066 4 60959342 61001647 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538150 S 6533 0 1 "" MS13498 nsv879067 4 60959342 61010913 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568709,nssv1587327,nssv1586210,nssv1578906 M 6533 4 0 "" IS31330,IS34962,IS37689,IS38009 nsv461374 4 60969781 61041979 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537765 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056 nsv470037 4 60970054 61036595 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546312 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056 esv2428009 4 60970804 60972441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228691 S 1 0 1 "" NA18507 nsv513134 4 61012518 61016135 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626627 S 1 0 1 "" 1 esv2593723 4 61012546 61016790 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324991 S 1 0 1 "" NA18507 nsv821162 4 61012631 61014636 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420417 S 1 0 1 "" NA10851 nsv289320 4 61012702 61015780 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307898 M 24 "" esv1004179 4 61012725 61014393 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586735 S 3 1 0 "" HuRef esv29591 4 61012725 61017305 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11763,esv17375 M 451 28 0 "" NA06985,NA11931,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv275570 4 61025644 61030073 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585549,essv2585229 M 1250 1 1 "" nsv518581 4 61049299 61054173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696025 S 2026 0 1 "" esv999835 4 61178282 61187899 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565176 S 3 0 1 "" HuRef esv1003555 4 61182802 61184235 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586198 S 3 0 1 "" HuRef esv25501 4 61182802 61184744 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14414 S 451 0 6 "" NA11894,NA12828,NA18517,NA19190,NA19240,NA19257 nsv519020 4 61195605 61211632 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696491 S 2026 1 0 "" esv2593197 4 61251308 61252927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195406 S 1 0 1 "" NA18507 dgv24e194 4 61251624 61252259 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2093805,esv1943687 M 1 0 1 "" NA18507 esv4982 4 61251740 61252208 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27423 S 1 0 1 Single Asian sample YH "" YH dgv147n6 4 61251824 61252169 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293569,nsv293789 M 24 "" esv1293807 4 61251839 61252169 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077142 S 2 0 1 "" HuRef esv8604 4 61251840 61252154 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31045 S 1 0 1 "" SJK nsv521415 4 61315577 61318035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698025 S 2026 0 1 "" esv2055838 4 61351812 61352274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593397 S 1 0 1 "" NA18507 dgv1623e1 4 61477440 61650751 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8593,essv70,essv24308,essv5902,essv5512,essv3375,essv3709,esv477 M 271 0 0 "" NA10856,NA18550,NA18632,NA18945,NA18947,NA18991,NA19239 nsv10507 4 61482931 61485454 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13167 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 esv270327 4 61507663 61508014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558091,essv2575819,essv2541076,essv2521063,essv2525843,essv2544186,essv2556518,essv2568200,essv2545564,essv2523433,essv2531724,essv2577393,essv2570560,essv2548303,essv2521546,essv2576906,essv2550633,essv2525427,essv2550402,essv2535032,essv2552178,essv2520696,essv2547261,essv2558485,essv2564668,essv2578003,essv2553630,essv2559724,essv2576492,essv2520165,essv2564299,essv2554851,essv2530836,essv2561814,essv2537522,essv2546968,essv2540101,essv2520896,essv2552438,essv2578521,essv2536928,essv2561730,essv2544827,essv2563066,essv2523636,essv2552851,essv2538439,essv2542741,essv2540293,essv2524707,essv2564792,essv2534504,essv2561070,essv2539574,essv2549320,essv2519572,essv2559845,essv2522189,essv2566108,essv2530941,essv2532543,essv2567793,essv2528904,essv2567300,essv2541781,essv2570264,essv2563648,essv2553360,essv2572481,essv2559045,essv2527853,essv2578326,essv2573137,essv2533583,essv2566507,essv2530032,essv2527655,essv2556122,essv2522354,essv2531669,essv2573512,essv2577168,essv2571947,essv2551573,essv2536026,essv2537718,essv2548782,essv2533374,essv2554778,essv2548042,essv2563548 M 157 91 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11830,NA11831,NA11894,NA11918,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12892,NA18489,NA18498,NA18502,NA18510,NA18517,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18907,NA18940,NA18942,NA18944,NA18948,NA18949,NA18952,NA18956,NA18960,NA18961,NA18964,NA18970,NA18973,NA19257 esv273146 4 61507663 61508014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581701,essv2583018 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv879073 4 61538046 61657736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556254 S 6533 0 1 "" MS21868 nsv10508 4 61541559 61543529 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13393 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv528850 4 61600253 61603829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705529 S 2026 0 1 "" nsv10509 4 61603228 61605528 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11986 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 nsv821017 4 61621653 61624939 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420418 S 1 0 1 "" NA10851 esv5045 4 61621748 61625003 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27486 S 1 0 1 Single Asian sample YH "" YH esv22162 4 61621762 61624843 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18886 S 451 32 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12287,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514217 4 61621776 61624456 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627656 S 1414 0 1 "" esv8225 4 61621783 61624850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30666 S 1 0 1 "" SJK nsv499043 4 61621784 61624841 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585904 S 9 0 1 "" esv1009640 4 61621837 61624843 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586553 S 3 1 0 "" HuRef nsv4357 4 61636020 61643265 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7961 S 9 0 1 "" NA12156 esv25438 4 61681942 61683010 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15295 S 451 0 12 "" NA11931,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18907,NA19114,NA19190,NA19225,NA19257 nsv822566 4 61681963 61683135 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435025,nssv1425495,nssv1439352 M 31 0 3 "" NA18547,NA18592,NA18942 nsv822567 4 61681963 61684860 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428211 S 31 0 1 "" AK10 esv2421707 4 61682688 61684416 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104466,essv5049035,essv5119328,essv5080599,essv5138333,essv5110205,essv5098949,essv5155531,essv5121942,essv5049373,essv5041043,essv5113584,essv5151567,essv5020783,essv5100693,essv5120131,essv5039420,essv5155451,essv5024990,essv5048313,essv5041190,essv5006561,essv5142091,essv5106564,essv5093043,essv5042050,essv5055638,essv5042798,essv5127270,essv5139155,essv5160378,essv5036830,essv5144076,essv5022929,essv5153656,essv5110281,essv5156792,essv5157809,essv5077343,essv5096432,essv5045050,essv5097631,essv5052489,essv5109888,essv5083900,essv5086220,essv5142605,essv5138462,essv5137279,essv5126837,essv5099498,essv5059449,essv5033870,essv5050470,essv5148939,essv5151032,essv5084973,essv5064937,essv5056690,essv5048295,essv5090169,essv5069933,essv5091205,essv5096343,essv5127455,essv5116453,essv5036458,essv5091960,essv5124315,essv5093652,essv5139612,essv5041208,essv5128466,essv5058190,essv5046628,essv5018197,essv5124127,essv5105413,essv5130603,essv5063768,essv5102254,essv5068157,essv5057138,essv5151322,essv5030541,essv5121504,essv5015711,essv5033999,essv5017198,essv5093824,essv5057125,essv5051535,essv5074885,essv5112274,essv5039447,essv5118724,essv5040569,essv5080294,essv5081697,essv5158126,essv5103064,essv5119408,essv5084264,essv5107337,essv5076024,essv5021869,essv5079298,essv5035752,essv5002734,essv5118159,essv5098831,essv5065457,essv5052292,essv5052051,essv5098396,essv5091629,essv5095467,essv5044416,essv5045884,essv5142582,essv5158110,essv5034476,essv5068324,essv5071958,essv5016529,essv5115276,essv5012972,essv5089353,essv5130373,essv5105861,essv5087549,essv5130688,essv5082986,essv5092893,essv5026578,essv5091861,essv5014654,essv5056102,essv5001904,essv5149913,essv5061032,essv5155083,essv5069694,essv5144193,essv5087422,essv5035577,essv5121889,essv5022749,essv5132314,essv5104327,essv5075473,essv5057247,essv5048269,essv5149436,essv5134780,essv5158319,essv5033369,essv5101365,essv5123284,essv5108698,essv5046546,essv5089194,essv5047522,essv5126089,essv5147930,essv5138790,essv5003346,essv5124656,essv5080440,essv5043097,essv5092922,essv5023422,essv5125302,essv5032541,essv5079392,essv5008390,essv5094154,essv5154260,essv5132025,essv5036660,essv5056265,essv5127669,essv5145913,essv5013438,essv5011852,essv5113058,essv5149087,essv5021198,essv5039886,essv5081208,essv5095991,essv5034959,essv5079266,essv5009504,essv5028199,essv5034370,essv5044441,essv5156773,essv5034805,essv5003598,essv5130706,essv5021623,essv5089881,essv5070770,essv5081809,essv5022787,essv5089079,essv5090449,essv5136873,essv5052460,essv5129084,essv5157468,essv5077806,essv5148085,essv5006896,essv5081976,essv5077510,essv5052495,essv5030590,essv5112300,essv5024029,essv5051564,essv5157154,essv5070220,essv5158002,essv5075890,essv5003967,essv5144814,essv5028957,essv5023991,essv5069218,essv5135528,essv5102971,essv5024284,essv5134543,essv5018593,essv5085699,essv5133136,essv5126982,essv5153440,essv5147255,essv5074979,essv5012234 M 1184 0 243 "" NA06991,NA10845,NA11993,NA12045,NA12753,NA12763,NA12892,NA17999,NA18105,NA18117,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18497,NA18503,NA18504,NA18505,NA18508,NA18509,NA18511,NA18518,NA18520,NA18546,NA18638,NA18639,NA18641,NA18645,NA18858,NA18859,NA18860,NA18870,NA18872,NA18873,NA18875,NA18910,NA18911,NA18912,NA18913,NA18914,NA18923,NA18924,NA18925,NA18933,NA18977,NA18981,NA19038,NA19044,NA19064,NA19081,NA19083,NA19087,NA19098,NA19102,NA19103,NA19114,NA19115,NA19117,NA19118,NA19131,NA19140,NA19141,NA19143,NA19149,NA19153,NA19160,NA19174,NA19176,NA19180,NA19190,NA19191,NA19193,NA19198,NA19206,NA19210,NA19215,NA19223,NA19224,NA19225,NA19235,NA19236,NA19238,NA19239,NA19257,NA19307,NA19308,NA19309,NA19313,NA19314,NA19315,NA19316,NA19318,NA19321,NA19334,NA19359,NA19360,NA19371,NA19372,NA19382,NA19390,NA19391,NA19394,NA19397,NA19398,NA19403,NA19431,NA19434,NA19437,NA19439,NA19440,NA19443,NA19445,NA19448,NA19449,NA19452,NA19456,NA19463,NA19469,NA19470,NA19471,NA19473,NA19651,NA19657,NA19665,NA19670,NA19681,NA19682,NA19683,NA19684,NA19708,NA19711,NA19712,NA19713,NA19714,NA19746,NA19760,NA19776,NA19778,NA19819,NA19835,NA19836,NA19908,NA19909,NA19919,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20277,NA20279,NA20291,NA20294,NA20295,NA20300,NA20301,NA20317,NA20319,NA20334,NA20335,NA20336,NA20337,NA20341,NA20343,NA20346,NA20347,NA20349,NA20356,NA20359,NA20363,NA20512,NA20766,NA20805,NA20845,NA20889,NA21295,NA21297,NA21300,NA21301,NA21312,NA21318,NA21344,NA21352,NA21353,NA21359,NA21360,NA21364,NA21367,NA21368,NA21371,NA21378,NA21382,NA21383,NA21384,NA21385,NA21386,NA21390,NA21400,NA21401,NA21403,NA21414,NA21420,NA21423,NA21424,NA21425,NA21434,NA21436,NA21439,NA21473,NA21476,NA21479,NA21493,NA21494,NA21510,NA21517,NA21519,NA21525,NA21527,NA21575,NA21578,NA21583,NA21596,NA21601,NA21611,NA21616,NA21617,NA21619,NA21620,NA21635,NA21636,NA21647,NA21648,NA21678,NA21682,NA21693,NA21716,NA21719,NA21723,NA21733,NA21740 nsv879074 4 61682986 61792365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534108 S 6533 0 1 "" MS11467 esv2484819 4 61710639 61712436 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251376 S 1 0 1 "" NA18507 esv2290762 4 61710760 61711399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968059 S 1 0 1 "" NA18507 esv2826 4 61710827 61711374 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25267 S 1 0 1 Single Asian sample YH "" YH esv995310 4 61710906 61711188 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578251 S 3 0 1 "" HuRef esv1629944 4 61710907 61711190 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053121 S 2 0 1 "" HuRef esv2359085 4 61728361 61728751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550901 S 1 0 1 "" NA18507 nsv879075 4 61807126 62037386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580074 S 6533 0 1 "" IS35229 nsv879076 4 61933672 62037386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579613 S 6533 0 1 "" IS35145 nsv4358 4 61935053 61969086 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7962 S 9 1 0 "" NA12156 nsv523840 4 61957221 61971627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699672 S 2026 0 1 "" nsv471813 4 61966277 61968042 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646094 M 0.360 95 "" esv4190 4 61966506 61967945 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26631 S 1 0 1 Single Asian sample YH "" YH dgv873n67 4 61966517 61967552 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822568,nsv822569 M 31 0 11 "" AK10,AK14,AK18,AK2,AK20,AK6,NA18552,NA18570,NA18973,NA18997,NA18999 nsv822570 4 61966517 61968023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438095,nssv1436545 M 31 0 2 "" NA18542,NA18951 esv25724 4 61966718 61967874 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13623 S 451 0 1 "" NA19225 esv273414 4 62080015 62080327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580572,essv2579328,essv2579417 M 7 3 0 Samples from several populations that are part of the HapMap project. LPHN3 NA19238,NA19239,NA19240 esv270718 4 62080022 62080281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511901,essv2494173,essv2496155,essv2498410,essv2513319,essv2498773,essv2501850 M 157 7 0 Samples from several populations that are part of the HapMap project. LPHN3 NA18499,NA18502,NA18511,NA18858,NA18907,NA19138,NA19239 nsv879077 4 62102021 62228030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579269 S 6533 0 1 LPHN3 IS35083 nsv507170 4 62172855 62178855 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621747 S 4 1 0 LPHN3 NA10860 esv26839 4 62181370 62182290 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18208 S 451 6 0 LPHN3 NA18505,NA18511,NA19108,NA19129,NA19190,NA19257 nsv821451 4 62181370 62182290 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420419 S 1 0 1 LPHN3 NA10851 esv1721979 4 62181755 62182309 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761489 S 2 0 1 LPHN3 HuRef esv268599 4 62196000 62196263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575428,essv2530386,essv2551284 M 157 3 0 Samples from several populations that are part of the HapMap project. LPHN3 NA19099,NA19141,NA19257 nsv829949 4 62298232 62444224 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443678 S 95 0 1 LPHN3 nsv516728 4 62416032 62422269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684408,nssv670488 M 2026 0 2 LPHN3 esv268798 4 62471662 62471938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512512,essv2496843,essv2511744,essv2494335,essv2494835,essv2506846,essv2499110,essv2496928,essv2499812,essv2502077 M 157 10 0 Samples from several populations that are part of the HapMap project. LPHN3 NA18489,NA18498,NA18499,NA18502,NA18519,NA19102,NA19114,NA19190,NA19225,NA19257 nsv879078 4 62606392 62737352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570429 S 6533 0 1 LPHN3 IS32006 esv2611251 4 62665512 62666445 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166161 S 1 1 0 "" NA18507 esv271955 4 62665868 62666195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546326,essv2522780,essv2543956,essv2550578,essv2544289,essv2552185,essv2520513,essv2529330,essv2565489,essv2576482,essv2540057,essv2569247,essv2561399,essv2569188,essv2527883,essv2533946,essv2527515,essv2531392,essv2536040 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11881,NA11931,NA11992,NA12155,NA12414,NA12489,NA12716,NA12749,NA12812,NA12814,NA18489,NA18508,NA18523,NA18861,NA18907,NA18916,NA18952,NA18961 nsv461378 4 62719919 62841155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537766 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00886 nsv4359 4 62733427 62757524 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3128 S 9 1 0 "" NA18555 nsv879079 4 62742267 62867445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600557 S 6533 0 1 "" IS41895 nsv292356 4 62877886 62877886 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310934 M 24 "" esv1002879 4 62877888 62877888 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574174 S 3 1 0 "" HuRef esv1359604 4 62877889 62877889 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276488 S 2 1 0 "" HuRef nsv292975 4 62877890 62877890 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311553 M 24 "" nsv879080 4 62937614 63059321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589288 S 6533 0 1 "" IS38334 esv3219 4 62983681 62984542 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25660 S 1 0 1 Single Asian sample YH "" YH esv9646 4 62983790 62984272 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32087 S 1 0 1 "" SJK nsv521486 4 63061658 63096000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698097 S 2026 0 1 "" esv2084327 4 63160767 63161140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569665 S 1 0 1 "" NA18507 esv992415 4 63160866 63160915 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580358 S 3 0 1 "" HuRef esv1665373 4 63161032 63161082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811810 S 2 0 1 "" HuRef esv259571 4 63209324 63209652 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393876,essv2393735 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238 esv259981 4 63209341 63209671 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399074,essv2401155,essv2396026,essv2395788,essv2397562,essv2400747,essv2401103,essv2397617,essv2395651,essv2397846,essv2396566,essv2399273,essv2396493,essv2396122,essv2396873,essv2399484,essv2400133,essv2398447,essv2398209,essv2395371,essv2395899,essv2397519,essv2397146,essv2398320,essv2400971,essv2395228,essv2394853,essv2396407,essv2395946 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12003,NA12004,NA12044,NA12717,NA12891,NA18489,NA18501,NA18505,NA18507,NA18508,NA18517,NA18523,NA18579,NA18858,NA18861,NA18871,NA18909,NA18916,NA18945,NA18947,NA18951,NA19093,NA19099,NA19108,NA19114,NA19138,NA19238 esv8467 4 63209457 63209531 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30908 S 1 1 0 "" SJK nsv879081 4 63223752 63367153 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598447 S 6533 1 0 "" IS41025 esv1507424 4 63234685 63234739 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045247 S 2 0 1 "" HuRef esv1629974 4 63236500 63236500 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037678 S 2 1 0 "" HuRef esv1409921 4 63236774 63237190 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015406 S 2 0 1 "" HuRef nsv879082 4 63254382 63426495 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567219 S 6533 1 0 "" IS31046 nsv879083 4 63311194 63367153 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587691,nssv1536397 M 6533 2 0 "" IS38098,MS12758 nsv879084 4 63311194 63374623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574711 S 6533 0 1 "" IS33616 nsv4360 4 63314223 63385903 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2468,nssv7963 M 9 0 2 "" NA12156,NA18555 nsv509902 4 63340649 63346649 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618167 S 4 0 1 "" CHM dgv5550n71 4 63345748 63430856 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879085,nsv879086 M 6533 2 0 "" MS14837,MS16032 nsv10510 4 63348090 63358969 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13197,nssv29176,nssv12016,nssv12393,nssv13973,nssv12294,nssv13272,nssv12085,nssv11872,nssv11525,nssv11895,nssv11702,nssv12178 M 31 0 13 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA18502,NA18537,NA18552,NA18572,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144 esv267847 4 63351963 63352048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519050 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv29504 4 63352157 63358975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11761 S 451 0 9 "" NA07037,NA07045,NA11894,NA12004,NA12239,NA12749,NA18502,NA18508,NA18907 esv2421565 4 63352170 63357704 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055240,essv5140628,essv5101879,essv5058691,essv5028300,essv5133079,essv5038024,essv5089754,essv5022047,essv5101059,essv5154270,essv5077031,essv5015403,essv5007710,essv5048342,essv5011326,essv5136562,essv5007904,essv5035001,essv5048606,essv5067141,essv5120793,essv5056369,essv5139471,essv5092678,essv5131840,essv5113360,essv5152718,essv5125814,essv5005819,essv5078658,essv5009722,essv5068220,essv5069250,essv5064989,essv5082595,essv5121480,essv5034483,essv5110066,essv5022361,essv5027199,essv5157243,essv5029550,essv5143311,essv5123686,essv5078046,essv5132080,essv5043013,essv5107061,essv5098347,essv5135903,essv5065606,essv5109112,essv5147665,essv5114080,essv5013796,essv5036723,essv5134579,essv5060508,essv5078639,essv5054615,essv5110235,essv5052643,essv5114545,essv5086295,essv5004832,essv5084203,essv5065691,essv5032606,essv5030009,essv5070906,essv5069920,essv5112386,essv5013763,essv5006805,essv5133232,essv5125091,essv5059177,essv5146293,essv5004545,essv5088985,essv5107146,essv5037168,essv5076721,essv5144506,essv5109125,essv5010353,essv5156679,essv5113268,essv5067147,essv5024570,essv5131962,essv5131415,essv5125456,essv5119122,essv5112406,essv5144720,essv5032300,essv5116174,essv5146805,essv5046018,essv5020635,essv5092699,essv5026965,essv5070606,essv5106208,essv5070525,essv5088801,essv5044595,essv5056030,essv5084333,essv5099316,essv5061717,essv5159239,essv5068077,essv5050042,essv5158766,essv5123220,essv5052841,essv5129426,essv5134901,essv5101656,essv5024387,essv5014360,essv5107461,essv5081180,essv5068301,essv5056129,essv5159590,essv5118285,essv5082867,essv5123290,essv5077669,essv5114488,essv5055103,essv5145390,essv5116600,essv5135988,essv5098122,essv5157030,essv5004919,essv5160049,essv5077201,essv5160802,essv5065010,essv5146153,essv5096643,essv5050305,essv5061117,essv5106459,essv5018462,essv5077185,essv5005955,essv5080593,essv5086419,essv5063989,essv5068075,essv5062795,essv5150315,essv5121022,essv5044990,essv5078934,essv5156176,essv5122644,essv5123705,essv5059191,essv5057047,essv5023756,essv5157665,essv5016745,essv5097037,essv5116934,essv5013071,essv5126194,essv5072332,essv5161005,essv5059594,essv5055423,essv5061738,essv5087961,essv5128390,essv5150000,essv5152713,essv5092388,essv5141642,essv5013933,essv5028601,essv5141816,essv5123892,essv5034754,essv5063274,essv5075582,essv5021974,essv5090750,essv5010658,essv5017788,essv5112182,essv5141349,essv5056155,essv5093079,essv5098494,essv5150576,essv5020602,essv5072388,essv5148149,essv5073590,essv5073962,essv5135130,essv5008448,essv5071303,essv5095561,essv5106228,essv5102587,essv5145079,essv5080720,essv5006801,essv5097524,essv5138663,essv5037700,essv5026468,essv5004657,essv5121496,essv5006251,essv5067619,essv5128158,essv5161174,essv5056340,essv5045269,essv5051568,essv5037235,essv5013217,essv5087845,essv5071769,essv5083911,essv5136276,essv5058753,essv5116464,essv5006785,essv5091643,essv5086288,essv5143929,essv5121651,essv5142184,essv5156167,essv5033473,essv5091942,essv5009075,essv5100054,essv5013590,essv5132486,essv5079701,essv5050365,essv5101746,essv5072393,essv5072866,essv5092177,essv5011835,essv5134434,essv5111960,essv5026731,essv5076550,essv5119640,essv5073682,essv5129911,essv5111738,essv5143747,essv5138556,essv5098583,essv5008137,essv5158702,essv5017948,essv5049945,essv5065309,essv5065668,essv5040543,essv5033014,essv5047302,essv5143272,essv5005585,essv5137256,essv5049256,essv5150428,essv5129386,essv5077843,essv5033259,essv5137635,essv5099117,essv5015954,essv5090040,essv5059988,essv5074999,essv5132059,essv5160025,essv5034404,essv5038256,essv5108740,essv5032763,essv5139858,essv5112258,essv5009085,essv5072770,essv5043794,essv5131500,essv5035605,essv5103342,essv5068676,essv5118499,essv5035782,essv5085261,essv5138254,essv5117292,essv5030124,essv5044017,essv5108784,essv5139260,essv5002552,essv5079805,essv5012216,essv5144879,essv5098413,essv5070698,essv5058717,essv5015034,essv5104360,essv5040062,essv5059716,essv5072642,essv5021399,essv5092477,essv5089397,essv5141013,essv5133529,essv5132044,essv5115619,essv5088025,essv5064037,essv5144968,essv5047938,essv5050648,essv5066152,essv5007226,essv5023717,essv5136576,essv5150293,essv5142318,essv5123972,essv5115233,essv5025138,essv5010916,essv5017645,essv5045292,essv5010376,essv5011815,essv5058383,essv5107036,essv5127391,essv5003983,essv5035428,essv5146271,essv5054627,essv5035973,essv5153407,essv5155576,essv5013038,essv5110693,essv5038895,essv5110802,essv5130007,essv5092924,essv5072754,essv5131434,essv5154281,essv5124376,essv5101524,essv5104674,essv5077850,essv5059357,essv5071648,essv5095086,essv5101971,essv5084580,essv5012875,essv5007481,essv5133942,essv5062964,essv5042518,essv5090706,essv5002586,essv5115141,essv5123257,essv5062810,essv5074826,essv5002622,essv5081119,essv5031213,essv5023766,essv5033509,essv5078209,essv5144600,essv5069556,essv5131943,essv5141970,essv5013169 M 1184 0 403 "" NA06986,NA06989,NA06994,NA06995,NA06997,NA07000,NA07029,NA07037,NA07045,NA07051,NA07347,NA07349,NA10830,NA10840,NA10847,NA10850,NA10852,NA10853,NA10854,NA10864,NA11840,NA11843,NA11881,NA11882,NA11894,NA11994,NA12003,NA12043,NA12056,NA12057,NA12154,NA12239,NA12286,NA12344,NA12347,NA12348,NA12375,NA12708,NA12718,NA12749,NA12752,NA12761,NA12763,NA12767,NA12777,NA12815,NA12830,NA12832,NA12842,NA12843,NA12865,NA12874,NA12875,NA12877,NA12890,NA12891,NA17965,NA17966,NA17967,NA17968,NA17970,NA17972,NA17975,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17988,NA17989,NA17990,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18112,NA18114,NA18117,NA18124,NA18125,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18143,NA18146,NA18147,NA18148,NA18150,NA18151,NA18152,NA18153,NA18155,NA18156,NA18157,NA18160,NA18161,NA18162,NA18166,NA18489,NA18497,NA18498,NA18500,NA18506,NA18508,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18552,NA18555,NA18559,NA18561,NA18562,NA18566,NA18571,NA18572,NA18573,NA18577,NA18582,NA18595,NA18596,NA18602,NA18603,NA18605,NA18609,NA18610,NA18611,NA18612,NA18614,NA18615,NA18616,NA18619,NA18620,NA18622,NA18627,NA18628,NA18631,NA18632,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18645,NA18670,NA18682,NA18689,NA18694,NA18702,NA18740,NA18747,NA18749,NA18757,NA18867,NA18870,NA18872,NA18923,NA18939,NA18940,NA18942,NA18945,NA18946,NA18947,NA18948,NA18949,NA18952,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18965,NA18966,NA18968,NA18970,NA18972,NA18973,NA18975,NA18977,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18995,NA18998,NA18999,NA19000,NA19002,NA19005,NA19009,NA19036,NA19041,NA19054,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19068,NA19072,NA19074,NA19076,NA19077,NA19078,NA19081,NA19084,NA19085,NA19086,NA19087,NA19088,NA19101,NA19113,NA19122,NA19123,NA19131,NA19132,NA19144,NA19149,NA19151,NA19176,NA19209,NA19315,NA19372,NA19384,NA19390,NA19394,NA19429,NA19430,NA19436,NA19439,NA19445,NA19451,NA19452,NA19457,NA19469,NA19650,NA19654,NA19656,NA19661,NA19664,NA19665,NA19675,NA19676,NA19677,NA19679,NA19680,NA19682,NA19685,NA19686,NA19716,NA19722,NA19723,NA19724,NA19726,NA19746,NA19749,NA19761,NA19777,NA19783,NA19789,NA19790,NA19819,NA19828,NA19904,NA20284,NA20289,NA20291,NA20294,NA20295,NA20302,NA20334,NA20335,NA20336,NA20337,NA20340,NA20342,NA20343,NA20346,NA20347,NA20506,NA20515,NA20520,NA20524,NA20527,NA20529,NA20530,NA20531,NA20534,NA20582,NA20753,NA20769,NA20773,NA20774,NA20783,NA20785,NA20786,NA20787,NA20803,NA20812,NA20818,NA20826,NA20828,NA20847,NA20849,NA20856,NA20858,NA20861,NA20862,NA20869,NA20871,NA20873,NA20874,NA20876,NA20877,NA20879,NA20884,NA20887,NA20888,NA20889,NA20890,NA20892,NA20894,NA20897,NA20899,NA20901,NA20902,NA20904,NA20906,NA20908,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21106,NA21107,NA21111,NA21113,NA21115,NA21116,NA21117,NA21137,NA21142,NA21144,NA21301,NA21302,NA21316,NA21318,NA21336,NA21364,NA21368,NA21378,NA21453,NA21455,NA21486,NA21487,NA21519,NA21524,NA21599,NA21601,NA21632 nsv819155 4 63352170 63357704 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina CNV370 Beadchip nssv1418821,nssv1418867 M 2 0 1 "" AK1 nsv437919 4 63352170 63357773 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468295,nssv468288,nssv468286,nssv468284,nssv468275,nssv468280,nssv468289,nssv468283,nssv468277,nssv468294,nssv468292,nssv468287,nssv468279,nssv468291,nssv468298,nssv468293,nssv468281,nssv468276,nssv468290,nssv468278,nssv468282,nssv468273 M 269 0 22 Samples from several populations that are part of the HapMap project. "" NA07000,NA07029,NA12761,NA18500,NA18502,NA18532,NA18537,NA18540,NA18542,NA18545,NA18609,NA18635,NA18945,NA18949,NA18952,NA18960,NA18961,NA18965,NA18966,NA18972,NA18975,NA18998 nsv442905 4 63352531 63354257 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514218 4 63352560 63354016 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627657 S 1414 0 1 "" nsv819638 4 63354510 63357704 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418842 S 2 0 1 "" AK1 nsv822571 4 63357053 63358797 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438764,nssv1431257,nssv1435026,nssv1432779,nssv1424140,nssv1425816,nssv1439628,nssv1429743,nssv1423339,nssv1435815,nssv1428215,nssv1436546,nssv1439363,nssv1426593,nssv1425363,nssv1433597,nssv1422546,nssv1428989 M 31 0 18 "" AK10,AK12,AK14,AK18,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18582,NA18942,NA18947,NA18968,NA18972,NA18973,NA18999 nsv822572 4 63357611 63358797 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437381 S 31 0 1 "" NA18949 nsv879087 4 63357704 63414511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517404 S 6533 0 1 "" SP57270 dgv5551n71 4 63357704 63461883 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879089,nsv879088 M 6533 0 2 "" MS10386,SP50679 nsv289527 4 63357972 63359791 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308105 M 24 "" dgv5552n71 4 63401029 63516564 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879090,nsv879092 M 6533 0 3 "" IS35675,MS15199,MS23531 nsv879091 4 63408943 63482157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578442 S 6533 0 1 "" IS34779 nsv470038 4 63408943 63551459 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546313,nssv546314 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00655,HGDP01370 esv2156195 4 63439403 63439803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873454 S 1 0 1 "" NA18507 nsv521319 4 63461883 63517575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697926 S 2026 0 1 "" nsv879093 4 63488439 63742016 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565542 S 6533 1 0 "" IS30459 nsv4361 4 63491609 63523171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4747 S 9 1 0 "" NA19129 nsv818236 4 63511997 63544889 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417429 S 112 1 0 "" NA18952 nsv289825 4 63556357 63565457 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308403 M 24 "" nsv509903 4 63562184 63568184 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618168 S 4 0 1 "" CHM nsv508281 4 63565184 63570799 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618737 S 4 0 1 "" NA10860 esv1082310 4 63610383 63610383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694588 S 2 1 0 "" HuRef nsv879094 4 63616253 63897510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524114 S 6533 0 1 "" SP54853 dgv5553n71 4 63616253 64250116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879097,nsv879095,nsv879096 M 6533 0 4 "" IS33493,IS38374,IS40223,SP57243 nsv829950 4 63628944 63765911 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443679 S 95 0 1 "" nsv521583 4 63637813 63640832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698198 S 2026 1 0 "" nsv822573 4 63761164 63770689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432780 S 31 1 0 "" NA18972 esv2203553 4 63780574 63781223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868543 S 1 0 1 "" NA18507 nsv293351 4 63780746 63781064 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311929 M 24 "" nsv461379 4 63801558 63833261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537767 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01076 nsv527766 4 63807776 63831982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704255 S 2026 0 1 "" nsv822574 4 63816839 63837249 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440293 S 31 0 1 "" NA18564 esv25530 4 63816888 63837479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15893 S 451 0 5 "" NA06985,NA07045,NA11894,NA11931,NA12776 nsv818237 4 63820936 63831982 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417005,nssv1417987,nssv1418356,nssv1416724,nssv1417014,nssv1417350,nssv1417988,nssv1416723,nssv1417986,nssv1416894,nssv1415632,nssv1416722 M 112 1 11 "" NA06985,NA06991,NA06994,NA07345,NA07348,NA07357,NA12146,NA12248,NA12264,NA19159,NA19160,NA19161 dgv653n27 4 63820936 63833261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461382,nsv461381,nsv461380,nsv461386,nsv461384,nsv461388,nsv461387,nsv461385 M 1557 0 8 "" 1780854556_A,1780854576_A,1780862093_A,1782681263_A,HGDP00057,HGDP00145,NINDS_152,NINDS_215 esv2421403 4 63820936 63834508 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5160480,essv5004041,essv5139804,essv5099509,essv5085050,essv5156612,essv5059950,essv5136525,essv5043510,essv5139341,essv5002855,essv5036416,essv5045484,essv5012640,essv5061490,essv5075669,essv5056114,essv5077847,essv5133323,essv5138806,essv5058883,essv5046910,essv5014107,essv5111371,essv5148490,essv5121679,essv5059989,essv5076795,essv5106145,essv5053941,essv5027787,essv5135852,essv5159659,essv5109638,essv5160223,essv5050210,essv5114810,essv5080185,essv5103360,essv5158175,essv5106268,essv5146585,essv5117416,essv5090290,essv5018588,essv5146833,essv5049058,essv5147964,essv5139194,essv5002213,essv5042943,essv5040091,essv5095980,essv5153086,essv5161052,essv5108229,essv5085397,essv5115927,essv5056617,essv5030690,essv5146265,essv5153914,essv5086485,essv5010860,essv5121038,essv5036491,essv5151942,essv5078355,essv5140702,essv5007955,essv5132767,essv5100047,essv5135513,essv5081485,essv5133667,essv5085385,essv5083491,essv5101523,essv5093835,essv5036062,essv5160819,essv5048826,essv5160610,essv5081112,essv5093773,essv5087700,essv5131904,essv5019374,essv5059332,essv5049167,essv5121183,essv5021272,essv5118965,essv5122209,essv5160441,essv5031693,essv5005305,essv5069826,essv5146849,essv5039519,essv5151943,essv5096577,essv5014011,essv5067647,essv5098524,essv5135859,essv5118762,essv5060610,essv5154650,essv5085549,essv5111143,essv5133636,essv5153139,essv5085038,essv5065409,essv5002160,essv5046062,essv5107495,essv5022661,essv5158034,essv5111896,essv5105021,essv5033231,essv5110578,essv5049921 M 1184 0 125 "" NA06985,NA06991,NA06994,NA07045,NA07347,NA07348,NA07357,NA10837,NA10856,NA10864,NA11830,NA11894,NA11931,NA12146,NA12248,NA12264,NA12273,NA12335,NA12340,NA12341,NA12344,NA12348,NA12776,NA12814,NA12815,NA12827,NA12832,NA12843,NA12873,NA18499,NA18564,NA18685,NA19027,NA19035,NA19117,NA19159,NA19160,NA19161,NA19174,NA19197,NA19199,NA19310,NA19313,NA19314,NA19347,NA19352,NA19379,NA19396,NA19403,NA19404,NA19428,NA19438,NA19445,NA19468,NA19472,NA19474,NA19664,NA19701,NA19770,NA19772,NA20126,NA20128,NA20276,NA20294,NA20295,NA20517,NA20518,NA20519,NA20525,NA20531,NA20542,NA20544,NA20586,NA20588,NA20757,NA20759,NA20765,NA20770,NA20775,NA20785,NA20787,NA20803,NA20809,NA20854,NA20858,NA20877,NA20885,NA20897,NA20909,NA21088,NA21089,NA21100,NA21118,NA21137,NA21295,NA21302,NA21303,NA21352,NA21360,NA21362,NA21363,NA21382,NA21402,NA21404,NA21405,NA21415,NA21436,NA21440,NA21442,NA21476,NA21519,NA21582,NA21587,NA21600,NA21613,NA21616,NA21648,NA21650,NA21686,NA21723,NA21733,NA21738,NA21741,NA21768,NA21826 nsv517017 4 63820936 63856021 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670762,nssv659905,nssv678034,nssv682772,nssv654103,nssv692319,nssv688088,nssv670861,nssv660036,nssv683567,nssv657386,nssv673113,nssv667802,nssv657750,nssv655818,nssv664535,nssv655218,nssv691296,nssv667110,nssv682115,nssv684071,nssv651913,nssv656017,nssv672380,nssv685354,nssv662388,nssv692176,nssv657640,nssv653004,nssv672327,nssv661499,nssv693551,nssv654906,nssv684464,nssv665751,nssv661612,nssv685273,nssv673640,nssv688284,nssv664617,nssv657905,nssv689427,nssv679734,nssv680576,nssv686145,nssv688051,nssv664511,nssv685912,nssv655844,nssv667182,nssv660389,nssv688604,nssv673931,nssv675074,nssv663656,nssv690370,nssv668563,nssv681917,nssv677624,nssv668391,nssv657244,nssv672454,nssv678420,nssv675816,nssv681263,nssv660063,nssv663416,nssv676999,nssv686369,nssv673007,nssv676390,nssv659054,nssv677457,nssv666240,nssv684923,nssv669198,nssv655614,nssv682271,nssv680129,nssv682385,nssv668908,nssv658828,nssv668929,nssv662607,nssv688825,nssv692636,nssv678952,nssv688937,nssv653040,nssv652725,nssv663049,nssv671897,nssv688245,nssv654816,nssv672405,nssv653626,nssv671210,nssv658613,nssv677855,nssv670102,nssv668437,nssv679929,nssv680778,nssv685232,nssv672713,nssv655337,nssv667862,nssv655190,nssv690350,nssv659039,nssv687675,nssv677283,nssv665020,nssv686746,nssv669855,nssv663763,nssv692068,nssv666633,nssv656439,nssv664957,nssv665809,nssv675609 M 2026 0 122 "" nsv517519 4 63867277 63897510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671402,nssv674101,nssv682181,nssv674391,nssv667715,nssv688347,nssv677950,nssv690921,nssv665308,nssv671877,nssv683147,nssv655758,nssv681103,nssv683196,nssv685127,nssv680204,nssv663403,nssv652256,nssv680843,nssv690501,nssv688583,nssv684200,nssv677511,nssv674174,nssv654783,nssv688974,nssv688557,nssv660479 M 2026 0 28 "" esv2633805 4 63876205 63877843 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224951 S 1 0 1 "" NA18507 esv1718468 4 63876955 63877297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167080 S 2 0 1 "" HuRef nsv441881 4 63926525 63935689 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv879098 4 63936226 64011764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591190 S 6533 0 1 "" IS38650 dgv5554n71 4 63936226 64086972 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879100,nsv879099 M 6533 0 2 "" IS31419,IS41924 nsv461389 4 63958061 64853010 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537777 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TECRL HGDP00148 nsv518103 4 63998740 64011764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695516 S 2026 0 1 "" esv1000072 4 64016338 64017207 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587127 S 3 1 0 "" HuRef esv990102 4 64037681 64038121 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564668 S 3 1 0 "" HuRef nsv290587 4 64077676 64077676 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309165 M 24 "" nsv879101 4 64086972 64197573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520013 S 6533 1 0 "" SP50644 esv2611276 4 64124655 64126228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288065 S 1 0 1 "" NA18507 esv2019817 4 64124933 64125676 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4991108 S 1 0 1 "" NA18507 esv4408 4 64125094 64125556 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26849 S 1 0 1 Single Asian sample YH "" YH esv6778 4 64125145 64125490 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29219 S 1 0 1 "" SJK nsv461390 4 64137311 64780488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537778 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01062 dgv5555n71 4 64178633 64435650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879104,nsv879102,nsv879103 M 6533 0 3 "" MS18978,MS22104,MS25617 nsv527873 4 64190186 64350772 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704372 S 2026 1 0 "" dgv5556n71 4 64234919 64398956 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879108,nsv879105 M 6533 0 4 "" IS30539,IS31419,IS37060,IS37974 nsv470039 4 64234919 64422522 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546315,nssv546316 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356,HGDP01412 dgv5557n71 4 64234919 64817381 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879106,nsv879112 M 6533 0 2 "" IS39011,MS17114 nsv879107 4 64234919 65246273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541115 S 6533 0 1 TECRL MS15199 esv271978 4 64245745 64246079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565640,essv2540869,essv2546450,essv2526220,essv2536533,essv2522985,essv2545618,essv2523396,essv2577566,essv2548248,essv2550652,essv2544462,essv2520605,essv2547419,essv2529111,essv2564347,essv2553793,essv2576127,essv2520119,essv2564119,essv2554991,essv2530875,essv2562037,essv2537695,essv2528203,essv2578627,essv2540313,essv2565119,essv2534793,essv2539825,essv2560133,essv2528754,essv2567310,essv2570095,essv2563811,essv2535834,essv2559337,essv2542157,essv2555476,essv2533701,essv2573779,essv2525725,essv2536360,essv2537806,essv2548892,essv2533294,essv2524851,essv2563472 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA11829,NA11831,NA11881,NA11918,NA11920,NA11931,NA12003,NA12004,NA12043,NA12045,NA12155,NA12414,NA12716,NA12717,NA12749,NA12751,NA12763,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18510,NA18552,NA18558,NA18561,NA18563,NA18570,NA18579,NA18582,NA18593,NA18603,NA18608,NA18638,NA18856,NA18943,NA18944,NA18951,NA18980 esv274121 4 64245745 64246079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581791,essv2582612 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv461391 4 64255898 64370170 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537779 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00141 nsv879109 4 64255898 64414638 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583211,nssv1597009,nssv1584991,nssv1577762 M 6533 3 1 "" IS34555,IS36320,IS37226,IS40703 nsv879110 4 64255898 64430332 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572475 S 6533 1 0 "" IS33073 nsv879111 4 64255898 64532226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551292 S 6533 0 1 "" MS18847 esv273788 4 64265579 64265949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580867 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv470040 4 64314016 64392222 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546317 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00553 dgv654n27 4 64314017 64392223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461392,nsv461393,nsv461396 M 1557 0 3 "" 1780854477_A,1780862088_A,1780862312_A nsv879113 4 64314017 64398956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569140 S 6533 0 1 "" IS31445 nsv461397 4 64323707 64370170 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537784 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00154 nsv461398 4 64341452 64392223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537785 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01254 dgv5558n71 4 64346387 64442337 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879117,nsv879116,nsv879114 M 6533 6 0 "" IS41340,MS10999,MS13062,MS16032,MS16436,MS23401 nsv516584 4 64350537 64398956 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653376,nssv654614,nssv661044,nssv678679,nssv682773,nssv671359,nssv667643,nssv691633,nssv653549,nssv687135,nssv685589,nssv688493,nssv677703,nssv678913,nssv663928,nssv689273,nssv656018,nssv669070,nssv686647,nssv686146,nssv690898,nssv677199,nssv693387,nssv669838,nssv685255,nssv673573,nssv669019,nssv671449,nssv684072,nssv687757,nssv699407,nssv679832,nssv669039,nssv671304,nssv686007,nssv691315,nssv692221,nssv658644,nssv659599,nssv657956,nssv654505,nssv680679,nssv660037,nssv692854,nssv662434,nssv670862,nssv678129,nssv656677,nssv681046,nssv689544,nssv659483,nssv655387,nssv660496,nssv691268,nssv665366,nssv655479,nssv653627,nssv661769,nssv655513,nssv668414,nssv692584,nssv661422,nssv660311,nssv669695,nssv670210,nssv662514,nssv663134,nssv673008,nssv677856,nssv653960,nssv668776,nssv653174,nssv687781,nssv652027,nssv665593,nssv688815,nssv675130,nssv676391,nssv680601,nssv693042,nssv667664,nssv667183,nssv657115,nssv654059,nssv657702,nssv676618,nssv686747,nssv675876,nssv667231,nssv690984,nssv681227,nssv657482,nssv688506,nssv683133,nssv692787,nssv652825,nssv673419,nssv666376,nssv658858,nssv679680,nssv659926,nssv665877,nssv688052,nssv685565,nssv668909,nssv685928,nssv682544,nssv665696,nssv654784,nssv684628,nssv683031,nssv687353,nssv690006,nssv690555,nssv678421,nssv691682,nssv681412,nssv657751,nssv690515,nssv685149,nssv671328,nssv681900,nssv687227,nssv676302,nssv669481,nssv690714,nssv688311,nssv692656,nssv668762,nssv658892,nssv670334,nssv685798,nssv668643,nssv679735,nssv658194,nssv675511,nssv679547,nssv686037,nssv670739,nssv665233,nssv660359,nssv662234,nssv674059,nssv655014,nssv682935,nssv691702,nssv688386,nssv679131,nssv655819,nssv688750,nssv702717,nssv668428,nssv689814,nssv656735,nssv654188,nssv661988,nssv671898,nssv682241,nssv664222,nssv690972,nssv651694,nssv675202,nssv688299,nssv674594,nssv658806,nssv690224,nssv668960,nssv692069,nssv653146,nssv679443,nssv672019,nssv652563,nssv671672,nssv653314,nssv693700,nssv653085,nssv672572,nssv652943,nssv693806,nssv678899,nssv658099,nssv691715,nssv674782,nssv659146,nssv655869,nssv670030,nssv653438,nssv653667,nssv663196,nssv657724,nssv672161,nssv660569,nssv677175,nssv677070,nssv667966,nssv653732,nssv690574,nssv677345,nssv661112,nssv689186,nssv686818,nssv662057,nssv659670,nssv691358,nssv664692,nssv682556,nssv658770,nssv689887,nssv683473,nssv652257,nssv675909,nssv660414,nssv675475,nssv689103,nssv678406,nssv668597,nssv691756,nssv693727,nssv692821,nssv685620,nssv659810,nssv674350,nssv688844,nssv693154,nssv685128,nssv677223,nssv689903,nssv660188,nssv679700,nssv663429,nssv687529,nssv704169,nssv693789,nssv658289,nssv690782,nssv678635,nssv683545,nssv688128,nssv655915,nssv677458,nssv669347,nssv688619,nssv675849,nssv655671,nssv691145,nssv658565,nssv679958,nssv674616,nssv682989,nssv666699,nssv654546,nssv655831,nssv692362,nssv687482,nssv659824,nssv676558,nssv689203,nssv680232,nssv675838,nssv691461,nssv684480,nssv659906,nssv672848,nssv680413,nssv681584,nssv667472,nssv681958,nssv669628,nssv690524,nssv691168,nssv684107,nssv668138,nssv684324,nssv681816,nssv682965,nssv678603,nssv686996,nssv689831,nssv676785,nssv685011,nssv675817,nssv672952,nssv669651,nssv670565,nssv658544,nssv677796,nssv676271,nssv665937,nssv654817,nssv658843,nssv660632,nssv673932,nssv666241,nssv688285,nssv691208,nssv654262,nssv654104,nssv669715,nssv659640,nssv678248,nssv679846,nssv670698,nssv659689,nssv653890,nssv693518,nssv670892,nssv682157,nssv690502,nssv677755,nssv651828,nssv676832,nssv677411,nssv678354,nssv676594,nssv660107,nssv672455,nssv663989,nssv692300,nssv668232,nssv671350,nssv691822,nssv683007,nssv674937,nssv654528,nssv685274,nssv668438,nssv682852,nssv654483,nssv682831,nssv668280,nssv672328,nssv680247,nssv690705,nssv685073,nssv691779,nssv671500,nssv677646,nssv686341,nssv689342,nssv672475,nssv659385,nssv656077,nssv683486,nssv691297,nssv681703,nssv660904,nssv674008,nssv677625,nssv662608,nssv684764,nssv670290,nssv681652,nssv687118,nssv688403,nssv668296,nssv666034,nssv662840,nssv681024,nssv687978,nssv690537,nssv687194,nssv667756,nssv664536,nssv682030,nssv671432,nssv652984,nssv673243,nssv663631,nssv692615,nssv653581,nssv679145,nssv689874,nssv688373,nssv691287,nssv671969,nssv673069,nssv685951,nssv658790,nssv653164,nssv690960,nssv663380,nssv662704,nssv687801,nssv666216,nssv665153,nssv662936,nssv663818,nssv655777,nssv662211,nssv670808,nssv657211,nssv652877,nssv654870,nssv675747,nssv666977,nssv681008,nssv691049,nssv679668,nssv655592,nssv681142,nssv687056,nssv665634,nssv685715,nssv679982,nssv683403,nssv652372,nssv661613,nssv680172,nssv657170,nssv659091,nssv678332,nssv664372,nssv673516,nssv682643,nssv689957,nssv671832,nssv693476,nssv670394,nssv693354,nssv673114,nssv668083,nssv658938,nssv679246,nssv652726,nssv692678,nssv674148,nssv688348,nssv687161,nssv678495,nssv665955,nssv665309,nssv675416,nssv666634,nssv676667,nssv668185 M 2026 5 430 "" nsv879115 4 64350772 64430332 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600381,nssv1589393,nssv1594647,nssv1545197,nssv1535069,nssv1532232,nssv1565597,nssv1542099,nssv1598043,nssv1591397,nssv1549445,nssv1527098,nssv1558120,nssv1545700,nssv1584237,nssv1545478,nssv1579453,nssv1580213,nssv1545814,nssv1559238,nssv1594344,nssv1545777,nssv1591851,nssv1596602,nssv1591596,nssv1582673,nssv1550146 M 6533 26 1 "" IS30478,IS35102,IS35242,IS36077,IS36911,IS38349,IS38754,IS38995,IS39061,IS39786,IS39966,IS40573,IS41195,IS41875,MS10737,MS12003,MS15642,MS16708,MS16801,MS16917,MS16944,MS16959,MS18240,MS18325,MS23120,MS23791,SP58161 nsv508283 4 64367924 64398413 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622486 S 4 0 1 "" NA18994 nsv879118 4 64370170 64410389 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505649,nssv1502790 M 6533 1 1 "" SP51413,SP53791 nsv10511 4 64376511 64405788 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12339,nssv29017,nssv14190,nssv11555,nssv13178,nssv11676,nssv11887,nssv29168,nssv11902,nssv12324,nssv12214,nssv11732 M 31 0 12 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18942,NA18975,NA19221 esv23810 4 64376730 64396746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19259 S 451 0 9 "" NA06985,NA11894,NA11993,NA12239,NA12287,NA12414,NA12776,NA12828,NA15510 nsv822576 4 64376748 64391231 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434364 S 31 0 1 "" NA18570 dgv874n67 4 64376748 64398902 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822577,nsv822578 M 31 0 9 "" AK16,AK4,AK6,NA18542,NA18566,NA18582,NA18592,NA18942,NA18969 nsv442906 4 64380064 64390818 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv437920 4 64380379 64392223 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468313,nssv468326,nssv468324,nssv468321,nssv468299,nssv468329,nssv468314,nssv468309,nssv468318,nssv468302,nssv468306,nssv468312,nssv468310,nssv468317,nssv468307,nssv468322,nssv468325,nssv468300,nssv468304,nssv468311,nssv468316,nssv468301,nssv468328,nssv468320,nssv468315,nssv468327,nssv468305,nssv468303,nssv468323 M 269 0 17 Samples from several populations that are part of the HapMap project. "" NA06991,NA06993,NA07019,NA07056,NA10847,NA12154,NA12234,NA12239,NA12249,NA12740,NA12750,NA12761,NA12762,NA12864,NA12872,NA18542,NA18995 nsv514219 4 64381008 64390816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627658 S 1414 0 1 "" dgv655n27 4 64381774 64392223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461424,nsv461511,nsv461416,nsv461411,nsv461431,nsv461512,nsv461476,nsv461515,nsv461437,nsv461445,nsv461451,nsv461441,nsv461495,nsv461518,nsv461435,nsv461481,nsv461466,nsv461500,nsv461493,nsv461454,nsv461429,nsv461405,nsv461460,nsv461401,nsv461457,nsv461482,nsv461418,nsv461400,nsv461447,nsv461490,nsv461474,nsv461440,nsv461403,nsv461427,nsv461399,nsv461504,nsv461419,nsv461421,nsv461501,nsv461497,nsv461502,nsv461456,nsv461480,nsv461446,nsv461423,nsv461492,nsv461412,nsv461463,nsv461407,nsv461514,nsv461420,nsv461452,nsv461498,nsv461443,nsv461485,nsv461408,nsv461438,nsv461404,nsv461426,nsv461444,nsv461430,nsv461509,nsv461503,nsv461489,nsv461510,nsv461459,nsv461467,nsv461516,nsv461507,nsv461402,nsv461422,nsv461436,nsv461488,nsv461433,nsv461434,nsv461458,nsv461469,nsv461475,nsv461513,nsv461508,nsv461432,nsv461487,nsv461473,nsv461415,nsv461449,nsv461455,nsv461486,nsv461468,nsv461413,nsv461410,nsv461414,nsv461462,nsv461453,nsv461409,nsv461496,nsv461442,nsv461448,nsv461425,nsv461477,nsv461479,nsv461478,nsv461470,nsv461491,nsv461464,nsv461499,nsv461465,nsv461471,nsv461484 M 1557 0 108 "" 1780854130_A,1780854215_A,1780854257_A,1780854293_A,1780854296_A,1780854392_A,1780854522_A,1780854524_A,1780854525_A,1780854584_A,1780862057_A,1780862100_A,1780862202_A,1780862207_A,1780862246_A,1780862276_A,1780862300_A,1780862345_A,1780862394_A,1780862469_A,1780862551_A,1780862557_A,1780862559_A,1780862595_A,1780862599_A,1782681176_A,1782681179_A,1782681275_A,1788485588_A,1798860102_A,1798860108_A,1798860567_A,HGDP00021,HGDP00029,HGDP00080,HGDP00094,HGDP00096,HGDP00139,HGDP00153,HGDP00165,HGDP00267,HGDP00304,HGDP00520,HGDP00526,HGDP00537,HGDP00597,HGDP00671,HGDP00702,HGDP00706,HGDP00708,HGDP00710,HGDP00713,HGDP00771,HGDP00849,HGDP00852,HGDP00855,HGDP00857,HGDP00861,HGDP00862,HGDP00863,HGDP00864,HGDP00865,HGDP00868,HGDP00872,HGDP00875,HGDP00882,HGDP00893,HGDP00897,HGDP00901,HGDP00945,HGDP00952,HGDP00956,HGDP00957,HGDP00995,HGDP00998,HGDP00999,HGDP01003,HGDP01014,HGDP01015,HGDP01018,HGDP01019,HGDP01044,HGDP01047,HGDP01077,HGDP01163,HGDP01186,HGDP01209,HGDP01216,HGDP01255,HGDP01361,HGDP01365,NINDS_112,NINDS_114,NINDS_117,NINDS_136,NINDS_159,NINDS_170,NINDS_186,NINDS_19,NINDS_197,NINDS_219,NINDS_235,NINDS_251,NINDS_260,NINDS_50,NINDS_69,NINDS_72,NINDS_92 nsv818238 4 64381774 64392223 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415892,nssv1415834,nssv1418060,nssv1417599,nssv1415944,nssv1415633,nssv1415893,nssv1416051,nssv1416147,nssv1417383,nssv1417018,nssv1415946,nssv1417475,nssv1418358,nssv1415634,nssv1418061,nssv1417016,nssv1417353,nssv1415566,nssv1415833,nssv1416052,nssv1418357,nssv1418360,nssv1417361,nssv1417332,nssv1417338,nssv1417015,nssv1415568,nssv1417227,nssv1417116,nssv1416728,nssv1415835,nssv1415567,nssv1415635,nssv1415945,nssv1417284,nssv1417182,nssv1417372,nssv1415891,nssv1417136,nssv1416148 M 112 9 32 "" NA06985,NA06991,NA06993,NA06994,NA07000,NA07029,NA10830,NA10835,NA10847,NA10859,NA10860,NA10861,NA10863,NA11881,NA11992,NA11993,NA11994,NA11995,NA12044,NA12146,NA12154,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12740,NA12750,NA12751,NA12801,NA12813,NA12891,NA12892,NA18542,NA18550,NA18608,NA18609,NA18612,NA18960,NA18978 dgv5559n71 4 64381774 64673339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879122,nsv879119,nsv879120 M 6533 0 3 "" IS30742,IS35244,MS18620 dgv656n27 4 64386888 64392223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461527,nsv461521,nsv461522,nsv461525,nsv461519,nsv461524,nsv461520,nsv461526,nsv461523 M 1557 0 9 "" 1780854058_A,1780854118_A,1780862075_A,1780862194_A,1780862404_A,1780862579_A,HGDP00189,HGDP00786,NINDS_172 dgv5560n71 4 64389207 64992566 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879121,nsv879123 M 6533 0 2 TECRL IS33839,IS41043 esv2606771 4 64392788 64398746 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295764 S 1 0 1 "" NA18507 esv1382718 4 64398193 64398257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717105 S 2 0 1 "" HuRef dgv5561n71 4 64398956 64817381 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879125,nsv879124 M 6533 0 2 "" IS35127,IS37226 esv274359 4 64409483 64409806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582109,essv2582436 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv271829 4 64409485 64409808 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523147,essv2525303,essv2537515,essv2528350,essv2552608,essv2532281,essv2550234,essv2569820,essv2529806,essv2575739,essv2574908,essv2554656 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12004,NA12156,NA12878,NA12891,NA18502,NA18505,NA18511,NA18520,NA19093,NA19099,NA19138 esv2490750 4 64435721 64437293 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186177 S 1 0 1 "" NA18507 esv2235551 4 64440937 64441340 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681198 S 1 0 1 "" NA18507 esv991213 4 64457034 64467526 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564078 S 3 0 1 "" HuRef esv4694 4 64466114 64467271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27135 S 1 0 1 Single Asian sample YH "" YH nsv513135 4 64466143 64467726 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626628 S 1 0 1 "" 1 esv1580197 4 64466193 64467163 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646397 S 2 0 1 "" HuRef esv7007 4 64466197 64467148 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29448 S 1 0 1 "" SJK nsv829951 4 64516054 64694019 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443681,nssv1443680 M 95 0 2 "" nsv522453 4 64566331 64576393 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705816 S 2026 1 0 "" nsv829952 4 64662537 64817483 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443682 S 95 1 0 "" nsv879126 4 64673339 64992566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582326,nssv1566995 M 6533 0 2 TECRL IS31041,IS35911 nsv822579 4 64698013 64707997 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436548 S 31 0 1 "" NA18542 nsv512827 4 64703666 64703982 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625463 S 1 1 0 "" 1 esv1724768 4 64703731 64703731 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807743 S 2 1 0 "" HuRef dgv5562n71 4 64740935 64882812 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879128,nsv879127 M 6533 0 2 TECRL MS18620,MS18847 dgv5563n71 4 64740935 64992566 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879129,nsv879130,nsv879131 M 6533 0 3 TECRL IS31679,IS36656,MS10737 nsv508284 4 64743821 64753181 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622487 S 4 0 1 "" NA18994 esv25953 4 64779601 64780501 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15519 S 451 2 0 "" NA12749,NA19114 nsv523690 4 64785251 64795145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699496 S 2026 0 1 "" esv275301 4 64798345 64803210 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585280,essv2585128 M 1250 1 1 "" nsv879132 4 64800620 64882812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505558 S 6533 0 1 TECRL SP53687 nsv879133 4 64819841 64992566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551733,nssv1566224,nssv1567557,nssv1542289,nssv1567297 M 6533 0 5 TECRL IS30616,IS31067,IS31118,MS15749,MS18978 nsv879134 4 64847291 64933680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514412 S 6533 0 1 TECRL SP56004 nsv291771 4 64882053 64882382 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310349 M 24 TECRL dgv5564n71 4 64889184 64992566 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879136,nsv879135 M 6533 0 17 TECRL IS30490,IS30522,IS30597,IS31044,IS31082,IS31335,IS31758,IS31875,IS34645,IS35083,IS35271,IS36244,IS38239,IS39100,IS39243,IS39718,IS41068 nsv509904 4 64895896 64901896 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622055,nssv621234,nssv618169 M 4 0 3 TECRL CHM,NA10860,NA15510 esv269517 4 64899310 64899641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514575,essv2516809,essv2519200,essv2517466,essv2514191,essv2518813,essv2515506,essv2518602,essv2515102,essv2516400,essv2515632,essv2518064,essv2514298,essv2517594,essv2513879,essv2519430,essv2513742 M 157 17 0 Samples from several populations that are part of the HapMap project. TECRL NA07346,NA07347,NA11840,NA11881,NA11894,NA11918,NA12043,NA12045,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA19143 esv274442 4 64899310 64899641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581579 S 7 1 0 Samples from several populations that are part of the HapMap project. TECRL NA12878 esv1348338 4 64899341 64899341 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941475 S 2 1 0 TECRL HuRef nsv879137 4 64917842 65064629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564124 S 6533 0 1 TECRL IS30171 nsv292154 4 64927211 64929572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310732 M 24 TECRL nsv879138 4 64943107 64967383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504572 S 6533 0 1 TECRL SP52604 nsv507171 4 64947271 64953271 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617633,nssv620246,nssv621748 M 4 3 0 TECRL CHM,NA10860,NA15510 nsv879139 4 65019790 65119238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573680 S 6533 0 1 "" IS33491 esv2631937 4 65040913 65042299 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242827 S 1 0 1 "" NA18507 dgv5565n71 4 65075228 65192764 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879145,nsv879140,nsv879141 M 6533 0 5 "" IS30683,IS31179,IS31554,IS35189,IS36656 dgv5566n71 4 65075228 65286064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879143,nsv879144,nsv879142 M 6533 0 4 "" IS35229,IS39718,MS10802,MS22104 nsv829953 4 65115169 65246074 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443683 S 95 1 0 "" dgv5567n71 4 65119238 65192764 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879146,nsv879147 M 6533 0 3 "" IS31849,IS35107,MS19487 nsv879148 4 65125422 65420428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546094 S 6533 0 1 "" MS17114 nsv879149 4 65144891 65193742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567298 S 6533 0 1 "" IS31067 nsv879150 4 65144891 65246273 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569716,nssv1564519,nssv1583882 M 6533 1 2 "" IS30226,IS31679,IS36722 nsv822580 4 65158279 65158810 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424918 S 31 0 1 "" AK2 nsv437382 4 65187309 65196689 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467263 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 nsv461530 4 65190288 65218065 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537913 S 1557 0 1 "" 1780854495_A esv268257 4 65200917 65201259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509710,essv2498489,essv2513534,essv2493845 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18858,NA18907,NA19210 nsv879151 4 65201703 65268955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569873 S 6533 0 1 "" IS31729 nsv4362 4 65261796 65282696 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3129 S 9 1 0 "" NA18555 nsv879152 4 65307316 65616271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560095 S 6533 0 1 LOC401134 MS24328 nsv879153 4 65322386 65954774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553098 S 6533 0 1 EPHA5,LOC401134 MS19736 nsv879154 4 65334463 65420428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598703 S 6533 0 1 "" IS41113 nsv879155 4 65334463 65483729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555359 S 6533 0 1 LOC401134 MS21294 nsv879156 4 65394593 65457321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600364 S 6533 0 1 "" IS41874 esv4148 4 65401625 65402373 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26589 S 1 0 1 Single Asian sample YH "" YH esv22443 4 65401671 65402157 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18469 S 451 4 0 "" NA12414,NA12749,NA19099,NA19225 nsv821309 4 65401671 65402157 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420420 S 1 0 1 "" NA10851 esv1007258 4 65401763 65402262 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587255 S 3 1 0 "" HuRef esv2464780 4 65415949 65417549 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270564 S 1 0 1 "" NA18507 nsv879157 4 65457321 65686929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583883 S 6533 0 1 LOC401134 IS36722 nsv879158 4 65497628 65577776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571418 S 6533 0 1 LOC401134 IS32732 nsv437383 4 65500763 65526435 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467264 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC401134 NA19202 nsv441882 4 65502562 65522613 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC401134 esv2421983 4 65502562 65523175 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5065319,essv5088176,essv5108968,essv5125972,essv5035353,essv5062125,essv5002755,essv5140777,essv5108128,essv5088354,essv5062377,essv5025312 M 1184 0 12 LOC401134 NA18500,NA18501,NA18509,NA18852,NA18854,NA19201,NA19202,NA19835,NA19836,NA19900,NA19916,NA20322 nsv879159 4 65505571 65616271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556576 S 6533 0 1 LOC401134 MS22104 nsv514220 4 65506396 65521564 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627660 S 1414 0 1 LOC401134 esv996870 4 65523656 65523656 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569937 S 3 1 0 LOC401134 HuRef nsv293792 4 65523658 65523658 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312370 M 24 LOC401134 esv1142776 4 65523726 65523726 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695559 S 2 1 0 LOC401134 HuRef esv1001585 4 65538205 65538207 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572383 S 3 1 0 LOC401134 HuRef esv1503850 4 65538207 65538207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830726 S 2 1 0 LOC401134 HuRef dgv5568n71 4 65584859 65754311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879160,nsv879161 M 6533 0 3 "" IS30645,IS41094,MS13426 dgv5569n71 4 65586192 65833264 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879164,nsv879162,nsv879163 M 6533 0 3 "" IS31187,IS31205,IS33669 dgv5570n71 4 65590611 65889087 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879167,nsv879165 M 6533 0 2 EPHA5 IS37226,IS40067 nsv292057 4 65593577 65593577 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310635 M 24 "" nsv879166 4 65616271 65648903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515485 S 6533 0 1 "" SP56207 nsv4363 4 65628728 65673385 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7964 S 9 0 1 "" NA12156 nsv829954 4 65656519 65804687 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443685,nssv1443686 M 95 0 2 "" nsv879168 4 65686929 65803871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569071 S 6533 0 1 "" IS31419 esv2338370 4 65693456 65693945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741840 S 1 0 1 "" NA18507 esv3992 4 65693572 65693810 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26433 S 1 0 1 Single Asian sample YH "" YH esv1103819 4 65787069 65787069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4080785 S 2 1 0 "" HuRef esv275174 4 65808882 65817319 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585987,essv2585355 M 1250 1 1 "" nsv879169 4 65809113 65889087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532234 S 6533 0 1 EPHA5 MS10737 nsv516455 4 65852238 65859369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673494,nssv668516 M 2026 0 2 "" nsv470041 4 65859369 65940868 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546318 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EPHA5 HGDP00907 nsv509905 4 65908231 65914231 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623947 S 4 0 1 EPHA5 NA18994 esv993892 4 65930243 65930894 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564703 S 3 1 0 EPHA5 HuRef nsv507172 4 65945850 65951850 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621749,nssv622893,nssv617634,nssv620247 M 4 4 0 EPHA5 CHM,NA10860,NA15510,NA18994 nsv879170 4 65971762 66037699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551734 S 6533 0 1 EPHA5 MS18978 nsv879171 4 65971762 66321411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580076 S 6533 0 1 EPHA5,LOC100144602 IS35229 dgv5571n71 4 66015514 66079709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879172,nsv879173 M 6533 0 3 EPHA5 IS30522,IS31118,IS31581 esv2294940 4 66047090 66047551 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660650 S 1 0 1 EPHA5 NA18507 nsv290967 4 66047308 66047381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309545 M 24 EPHA5 nsv818239 4 66064176 66066025 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417855 S 112 1 0 EPHA5 NA18852 nsv879174 4 66064176 66166188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581068,nssv1569950 M 6533 0 2 EPHA5 IS31758,IS35498 esv24754 4 66077022 66113378 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17168 S 451 0 1 EPHA5 NA07037 esv2501169 4 66103391 66104842 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293639 S 1 0 1 EPHA5 NA18507 esv2021289 4 66103725 66104326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723710 S 1 0 1 EPHA5 NA18507 dgv5572n71 4 66126469 66303861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879178,nsv879179,nsv879177,nsv879175,nsv879176 M 6533 0 7 EPHA5,LOC100144602 IS32615,IS36219,IS36527,MS15199,MS18847,MS20872,SP53041 esv2422517 4 66131141 66242489 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161248 S 181 1 0 EPHA5,LOC100144602 ND01672 nsv879180 4 66137501 66247638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515333 S 6533 0 1 EPHA5,LOC100144602 SP56172 nsv291171 4 66152397 66152397 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309749 M 24 EPHA5 esv988089 4 66152399 66152399 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580556 S 3 1 0 EPHA5 HuRef esv1746107 4 66152400 66152400 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095709 S 2 1 0 EPHA5 HuRef nsv291266 4 66152401 66152401 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309844 M 24 EPHA5 nsv879181 4 66181611 66233214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515140 S 6533 0 1 EPHA5,LOC100144602 SP56126 nsv879182 4 66181611 66266097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513930 S 6533 0 1 EPHA5,LOC100144602 SP55878 dgv5573n71 4 66204084 66303861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879183,nsv879184,nsv879185 M 6533 0 3 EPHA5,LOC100144602 IS30742,IS31046,MS18620 esv9063 4 66219847 66219963 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31504 S 1 1 0 LOC100144602 SJK nsv291906 4 66220761 66225281 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310484 M 24 LOC100144602 nsv879186 4 66233214 66279452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582795 S 6533 0 1 LOC100144602 IS36170 dgv5574n71 4 66236804 66303861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879187,nsv879188 M 6533 0 3 LOC100144602 IS34599,IS35572,MS12947 nsv818240 4 66254452 66287824 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415836 S 112 1 0 "" NA10860 dgv1624e1 4 66254593 66328776 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25139,essv21092,esv1296 M 271 0 0 "" NA10854,NA11839 nsv879189 4 66260830 66321411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591868 S 6533 0 1 "" IS39081 nsv523673 4 66261647 66287824 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699477 S 2026 1 0 "" nsv470042 4 66261647 66311570 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546319,nssv546321 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01219,HGDP01403 nsv519377 4 66266585 66311570 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685746,nssv676202,nssv673420,nssv658444,nssv659943,nssv655759,nssv658953,nssv681770,nssv661045,nssv661589 M 2026 10 0 "" dgv657n27 4 66269296 66311570 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461535,nsv461541,nsv461537,nsv461536,nsv461540,nsv461538,nsv461534 M 1557 7 0 "" 1780862373_A,1780862517_A,HGDP00537,HGDP00538,HGDP01368,HGDP01403,NINDS_240 nsv441883 4 66271146 66312360 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25658 4 66271394 66311217 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14017 S 451 1 0 "" NA11931 nsv829955 4 66297391 66431308 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443687 S 95 1 0 "" esv1213967 4 66312777 66312777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857338 S 2 1 0 "" HuRef nsv513136 4 66322504 66326262 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626629 S 1 0 1 "" 1 esv2483753 4 66323187 66324655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369985 S 1 0 1 "" NA18507 esv2362753 4 66323514 66324218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926519 S 1 0 1 "" NA18507 dgv149n6 4 66323705 66324024 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290426,nsv293484 M 24 "" esv6624 4 66323705 66324146 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29065 S 1 0 1 "" SJK esv1004527 4 66323708 66324018 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579812 S 3 0 1 "" HuRef esv1224220 4 66323713 66324024 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666947 S 2 0 1 "" HuRef nsv10512 4 66328771 66333179 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29198,nssv12176,nssv13011 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA12872,NA18860,NA19007 nsv879190 4 66354952 66401913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576033 S 6533 0 1 "" IS33864 nsv879191 4 66354952 66468650 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524857 S 6533 1 0 "" SP55348 dgv5575n71 4 66368336 66485956 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879193,nsv879192 M 6533 0 2 "" IS41263,MS11467 esv992808 4 66386732 66388219 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565224 S 3 1 0 "" HuRef esv2493007 4 66389356 66390968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263388 S 1 0 1 "" NA18507 dgv5576n71 4 66394726 66459835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879194,nsv879195,nsv879196,nsv879197 M 6533 0 9 "" IS30146,IS30976,IS34797,IS36882,IS37443,IS38207,IS41809,MS20843,MS22798 esv2788 4 66437949 66438333 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25229 S 1 0 1 Single Asian sample YH "" YH esv1005680 4 66437972 66438251 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577472 S 3 0 1 "" HuRef nsv879198 4 66466940 66630749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570483 S 6533 0 1 "" IS32150 nsv509005 4 66479645 66507364 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620788 S 4 1 0 "" NA15510 esv993209 4 66484681 66486598 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565216 S 3 1 0 "" HuRef nsv474637 4 66485076 66485429 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557908 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv499251 4 66485076 66485429 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586433 S 9 1 0 "" nsv441884 4 66485479 66488419 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv4364 4 66486982 66532239 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7965 S 9 0 1 "" NA12156 nsv507173 4 66487009 66493009 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621750 S 4 1 0 "" NA10860 nsv879199 4 66615825 66852088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526653 S 6533 0 1 "" SP57700 nsv515894 4 66632070 66652993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686186,nssv675675,nssv678200,nssv667580,nssv670489,nssv686648,nssv657425,nssv692036,nssv663081,nssv655090,nssv679860,nssv672189,nssv688211,nssv671403,nssv684056,nssv665178,nssv680891 M 2026 0 17 "" nsv818241 4 66632070 66652993 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417857,nssv1417856 M 112 0 2 "" NA18852,NA18854 nsv519011 4 66632070 66670238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694297 S 2026 0 1 "" nsv829956 4 66713351 66895871 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443688 S 95 0 1 "" esv271330 4 66789173 66789505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558040,essv2565654,essv2540931,essv2571626,essv2546384,essv2521200,essv2526100,essv2542429,essv2536571,essv2522889,essv2544054,essv2571029,essv2568092,essv2545327,essv2523384,essv2577332,essv2570679,essv2548324,essv2521660,essv2525475,essv2550316,essv2535132,essv2553925,essv2544492,essv2552013,essv2520665,essv2547245,essv2529159,essv2558372,essv2564565,essv2577982,essv2553588,essv2559497,essv2565389,essv2576232,essv2564059,essv2530636,essv2562126,essv2537375,essv2528183,essv2546728,essv2557017,essv2552535,essv2551757,essv2532236,essv2562686,essv2569602,essv2550095,essv2538978,essv2569681,essv2527299,essv2561706,essv2544853,essv2562937,essv2523722,essv2541445,essv2538302,essv2540645,essv2524314,essv2534667,essv2561142,essv2539841,essv2549601,essv2519591,essv2560067,essv2522296,essv2565903,essv2531117,essv2532611,essv2567965,essv2529029,essv2567397,essv2541741,essv2569915,essv2563849,essv2553328,essv2535634,essv2572372,essv2559391,essv2542148,essv2550917,essv2568971,essv2562418,essv2539358,essv2534093,essv2578220,essv2572993,essv2555320,essv2533694,essv2555556,essv2567207,essv2566362,essv2530133,essv2555974,essv2534442,essv2522406,essv2531640,essv2573547,essv2543276,essv2525660,essv2526755,essv2575094,essv2538597,essv2526487,essv2524302,essv2574897,essv2530448,essv2560473,essv2548068,essv2549739,essv2571128,essv2551268,essv2535974,essv2538047,essv2548856,essv2532993,essv2554707,essv2547646,essv2524817,essv2563172 M 157 120 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19005,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19190,NA19210,NA19225,NA19238,NA19257 esv273073 4 66789176 66789506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582016,essv2582264,essv2582979,essv2584252 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv1238362 4 66789211 66789211 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257445 S 2 1 0 "" HuRef esv2367092 4 66800093 66800587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4534720 S 1 0 1 "" NA18507 nsv290780 4 66800290 66800408 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309358 M 24 "" nsv879200 4 66801262 66891998 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588589 S 6533 1 0 "" IS38219 esv1273209 4 66828270 66828270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267832 S 2 1 0 "" HuRef nsv879201 4 66885782 66974920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574964 S 6533 0 1 "" IS33676 nsv528212 4 66956730 67041492 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704773 S 2026 1 0 MIR548AJ2 nsv829957 4 66972413 67169422 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443689,nssv1443690 M 95 2 0 MIR548AJ2 dgv5577n71 4 66984484 67105537 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879204,nsv879202 M 6533 0 2 MIR548AJ2 IS39718,MS11467 nsv879203 4 66984484 67154181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566462 S 6533 0 1 MIR548AJ2 IS30742 nsv509906 4 66994316 67000316 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621235,nssv618170 M 4 0 2 "" CHM,NA15510 nsv879205 4 67041492 67221309 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524858 S 6533 1 0 MIR548AJ2 SP55348 nsv879206 4 67045467 67181170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574264 S 6533 0 1 MIR548AJ2 IS33533 nsv879207 4 67060460 67093319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503274 S 6533 0 1 MIR548AJ2 SP52020 nsv822581 4 67062156 67074074 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424143,nssv1433598 M 31 0 2 MIR548AJ2 NA18526,NA18582 nsv441885 4 67063196 67075558 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR548AJ2 nsv879208 4 67072124 67142556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580077,nssv1552529 M 6533 0 2 MIR548AJ2 IS35229,MS19487 esv269161 4 67118155 67118325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501162,essv2494815,essv2510494,essv2501888,essv2498152 M 157 5 0 Samples from several populations that are part of the HapMap project. MIR548AJ2 NA18516,NA18519,NA19172,NA19239,NA19240 esv272391 4 67118183 67118367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584846,essv2583361 M 7 2 0 Samples from several populations that are part of the HapMap project. MIR548AJ2 NA19239,NA19240 nsv879209 4 67154181 67188740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517873 S 6533 0 1 "" SP57401 dgv5578n71 4 67190260 67326474 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879211,nsv879210 M 6533 0 2 "" SP51051,SP52552 esv2464806 4 67219701 67221374 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285099 S 1 0 1 "" NA18507 esv2253005 4 67220363 67221058 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520699 S 1 0 1 "" NA18507 esv24409 4 67342006 67344345 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15565 S 451 0 1 "" NA19190 nsv437384 4 67387673 67394492 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467265 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19202 esv992240 4 67390799 67395317 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564086 S 3 0 1 "" HuRef nsv879212 4 67395610 67889758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544664 S 6533 1 0 "" MS16416 nsv4366 4 67400966 67446207 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2469 S 9 0 1 "" NA18555 nsv4367 4 67427202 67456071 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7090 S 9 1 0 "" NA12156 esv271443 4 67436570 67436817 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514618,essv2517003,essv2514059 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11931,NA12043 nsv7362 4 67493270 67536507 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7091 S 9 0 0 "" NA12156 nsv4368 4 67520969 67551311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10407 S 9 1 0 "" NA18956 nsv4369 4 67599670 67618463 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7967 S 9 0 1 "" NA12156 esv1414409 4 67646487 67646487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702074 S 2 1 0 "" HuRef nsv829958 4 67684506 67861860 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443691 S 95 1 0 "" nsv520302 4 67788701 67799134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697336 S 2026 0 1 "" nsv4370 4 67793246 67821494 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3260 S 9 1 0 "" NA12878 nsv879213 4 67875452 67975880 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570122 S 6533 1 0 "" IS31804 nsv525716 4 67920557 67923676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701878 S 2026 0 1 "" esv275311 4 67924236 67934587 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585616 S 1250 0 1 "" esv2523968 4 67945992 67951362 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199209 S 1 1 0 "" NA18507 esv24388 4 67946841 67949385 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19707 S 451 2 0 "" NA11931,NA15510 nsv820505 4 67946841 67949385 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420421 S 1 1 0 "" NA10851 nsv436874 4 67947226 67947417 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466105 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv8353 4 67947487 67948128 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30794 S 1 0 1 "" SJK esv4475 4 67947791 67949072 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26916 S 1 0 0 Single Asian sample YH "" YH nsv435940 4 67947839 67948186 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466107 S 2 1 0 "" NA15510 nsv436792 4 67948293 67948568 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466108 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv8309 4 67948329 67948744 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30750 S 1 0 1 "" SJK dgv5e3 4 67948522 67948589 CNV Complex Wang et al 2008 18987735 Sequencing esv5291,esv3952 M 1 0 0 "" YH esv6325 4 67948635 67949175 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28766 S 1 0 1 "" SJK esv270252 4 67980919 67981324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496167,essv2513531 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18907 esv22504 4 68035566 68036592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18525 S 451 0 1 CENPC1 NA18511 esv2605147 4 68042813 68044136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375954 S 1 0 1 CENPC1 NA18507 esv2512052 4 68063076 68066773 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341902 S 1 0 1 CENPC1 NA18507 esv2356691 4 68063352 68066096 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794971 S 1 0 1 CENPC1 NA18507 esv24989 4 68063481 68065835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18248 S 451 0 1 CENPC1 NA18858 nsv879214 4 68072436 68472373 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568303 S 6533 1 0 CENPC1,GNRHR,LOC550112,STAP1,TMPRSS11A,TMPRSS11D,UBA6 IS31228 nsv879215 4 68102080 68262288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582112 S 6533 0 1 LOC550112,STAP1,UBA6 IS35789 nsv879216 4 68116450 68153050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538383 S 6533 0 1 STAP1 MS13721 dgv5579n71 4 68197750 68262288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879218,nsv879217 M 6533 0 2 LOC550112,UBA6 SP56004,SP56120 nsv829960 4 68331832 68492224 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443692 S 95 0 1 TMPRSS11A,TMPRSS11D nsv879219 4 68425627 68711508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517730 S 6533 0 1 SYT14L,TMPRSS11A,TMPRSS11D,TMPRSS11F SP57367 nsv10513 4 68440666 68457141 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13302 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 dgv1625e1 4 68459601 68711508 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17362,essv11972,esv800 M 271 0 0 SYT14L,TMPRSS11A,TMPRSS11F NA18517 esv22957 4 68471325 68698696 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10683 S 451 1 0 SYT14L,TMPRSS11A,TMPRSS11F NA18517 nsv10514 4 68472110 68698481 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13184 S 31 1 0 Samples from several populations that are part of the HapMap project. SYT14L,TMPRSS11A,TMPRSS11F NA18517 esv35010 4 68473429 68700763 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986830,essv6986829,essv6979253,essv6979254,essv6979255 M 771 1 0 SYT14L,TMPRSS11A,TMPRSS11F NA18517 esv273097 4 68475524 68475609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581374 S 7 1 0 Samples from several populations that are part of the HapMap project. TMPRSS11A NA12878 nsv514221 4 68476112 68515720 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627661 S 1414 1 0 TMPRSS11A dgv658n27 4 68479975 68560171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461543,nsv461544,nsv461545,nsv461542 M 1557 0 4 TMPRSS11A HGDP00285,HGDP00313,HGDP00315,HGDP00333 nsv470043 4 68479975 68560171 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546322,nssv546325,nssv546324,nssv546323 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMPRSS11A HGDP00281,HGDP00313,HGDP00315,HGDP00333 nsv433367 4 68479975 68695596 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463248 S 9 1 0 Samples from several populations that are part of the HapMap project. SYT14L,TMPRSS11A,TMPRSS11F NA18517 nsv818242 4 68493732 68680748 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416433 S 112 1 0 SYT14L,TMPRSS11A,TMPRSS11F NA18517 nsv469718 4 68500911 68658169 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649739 M 265 6 0 Samples from several populations that are part of the HapMap project. SYT14L,TMPRSS11A,TMPRSS11F nsv517749 4 68531972 68570446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655565,nssv653099 M 2026 0 2 "" nsv292405 4 68538563 68538563 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310983 M 24 "" esv1362779 4 68538593 68538593 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893534 S 2 1 0 "" HuRef nsv879220 4 68541139 68621376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567818 S 6533 0 1 SYT14L,TMPRSS11F IS31154 esv1610187 4 68555774 68555843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664360 S 2 0 1 "" HuRef nsv879221 4 68598393 68715694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567181 S 6533 0 1 SYT14L,TMPRSS11F IS31046 nsv515010 4 68601488 68678008 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628509 S 1414 0 0 SYT14L,TMPRSS11F esv273792 4 68627346 68627680 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579035 S 7 1 0 Samples from several populations that are part of the HapMap project. TMPRSS11F NA19239 esv268503 4 68627347 68627679 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558158,essv2565786,essv2546184,essv2526082,essv2542226,essv2536561,essv2522898,essv2523442,essv2531870,essv2577409,essv2548531,essv2521816,essv2550381,essv2535253,essv2553991,essv2544318,essv2520329,essv2547542,essv2558380,essv2577746,essv2564076,essv2554933,essv2562080,essv2551927,essv2550255,essv2544582,essv2553029,essv2538183,essv2542826,essv2540481,essv2524383,essv2565138,essv2534652,essv2549209,essv2522288,essv2566188,essv2532583,essv2528778,essv2567359,essv2541460,essv2553357,essv2535696,essv2559205,essv2550891,essv2533878,essv2567148,essv2566356,essv2573949,essv2522433,essv2543060,essv2525760,essv2526364,essv2545992,essv2574487,essv2551498,essv2548985,essv2533221,essv2554452,essv2547634 M 157 59 0 Samples from several populations that are part of the HapMap project. TMPRSS11F NA07037,NA07051,NA07346,NA07347,NA10851,NA11829,NA11881,NA11918,NA11919,NA11920,NA11931,NA12004,NA12006,NA12043,NA12045,NA12144,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12761,NA12828,NA12872,NA12874,NA18504,NA18511,NA18526,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18571,NA18572,NA18576,NA18579,NA18582,NA18592,NA18605,NA18608,NA18638,NA18858,NA18916,NA18947,NA18948,NA18951,NA18960,NA18965,NA18980,NA19114,NA19239,NA19240,NA19257 nsv879222 4 68641575 68704975 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593740 S 6533 0 1 TMPRSS11F IS39512 esv2433513 4 68718697 68720255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188246 S 1 0 1 "" NA18507 esv2003137 4 68719300 68720005 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571952 S 1 0 1 "" NA18507 esv3138 4 68719434 68719943 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25579 S 1 0 1 Single Asian sample YH "" YH dgv150n6 4 68719488 68719823 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290475,nsv291339 M 24 "" esv1009607 4 68719496 68719816 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581462 S 3 0 1 "" HuRef esv5911 4 68719502 68719811 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28352 S 1 0 1 "" SJK esv1462260 4 68719502 68719823 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956488 S 2 0 1 "" HuRef nsv4371 4 68729232 68764215 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7092 S 9 0 1 FTLP10,TMPRSS11BNL NA12156 nsv508285 4 68739870 68758821 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619935,nssv622488 M 4 0 2 FTLP10,TMPRSS11BNL NA15510,NA18994 esv996547 4 68742143 68754536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565234 S 3 0 1 FTLP10,TMPRSS11BNL HuRef nsv499044 4 68746280 68752227 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585905 S 9 0 1 FTLP10,TMPRSS11BNL nsv520487 4 68766548 68777792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697448 S 2026 0 1 TMPRSS11B esv2470859 4 68823469 68823918 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285249 S 1 1 0 "" NA18507 nsv512828 4 68823491 68824675 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625464 S 1 1 0 "" 1 dgv1626e1 4 68852674 69172267 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10522,essv1658,essv7467,essv204,essv9921,essv5685,essv2908,essv7261,essv4516,essv97,essv732,essv594,essv3842,essv3618,essv7672,essv3941 M 271 0 0 TMPRSS11E,UGT2B17,YTHDC1 NA18605,NA18620,NA18623,NA18633,NA18635,NA18940,NA18947,NA18953,NA18961,NA18966,NA18970,NA18994,NA19005,NA19007,NA19145,NA19240 dgv1627e1 4 68852674 69746610 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1318,essv21299,essv7624,essv14872,essv8795,essv3487,essv15281,essv12334,essv12637,essv16503,essv25003,essv2126,essv8292,essv20312,essv17018,essv21793,essv8738,essv10767,essv15077,essv7493,essv14614,essv22915,essv12858,essv15552,essv10906,essv18388,essv9099,essv24726,essv16139,essv13722,essv12492,essv11115,essv14564,essv15426,essv11663,essv15492,essv6538,essv10438,essv14766,essv24892,essv15783,essv14326,essv23338,essv6476,essv20885,essv9339,essv24513,essv13440,essv13051,essv11544,essv12414,essv19158,essv14422,essv16457,essv13021,essv23889,essv23771,essv21232,essv19577,essv5076,essv19164,essv15671,essv9747,essv18276,essv18119,essv1179,essv20603,essv5559,essv9407,essv19019,essv16010,essv22363,essv23545,essv11917,essv12213,essv8437,essv23611,essv8084,essv17480,essv11259,essv1694,essv18426,essv10325 M 271 0 0 TMPRSS11E,UGT2B10,UGT2B15,UGT2B17,YTHDC1 NA06993,NA07000,NA07056,NA10839,NA10846,NA10855,NA11829,NA11830,NA11831,NA11993,NA12005,NA12006,NA12236,NA12239,NA12249,NA12750,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12814,NA12864,NA12865,NA12875,NA18500,NA18501,NA18502,NA18505,NA18506,NA18508,NA18515,NA18516,NA18522,NA18523,NA18529,NA18547,NA18561,NA18570,NA18611,NA18636,NA18852,NA18853,NA18859,NA18912,NA18913,NA18951,NA18959,NA18968,NA18973,NA18999,NA19092,NA19093,NA19094,NA19100,NA19101,NA19103,NA19119,NA19120,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19144,NA19154,NA19159,NA19173,NA19192,NA19194,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19238 dgv1628e1 4 68852674 70448761 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16886,essv8212,essv13887,esv512,essv14071,essv17178,essv19453 M 271 0 0 TMPRSS11E,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B4,UGT2B7,YTHDC1 NA11840,NA18854,NA18861,NA19116,NA19171,NA19205 dgv88n17 4 68887350 69065952 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437385,nsv437386 M 60 0 2 TMPRSS11E,YTHDC1 NA18872,NA19202 nsv879223 4 68905652 69624948 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592605 S 6533 1 0 TMPRSS11E,UGT2B15,UGT2B17 IS39243 dgv5580n71 4 68924523 69085989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879225,nsv879224 M 6533 0 2 TMPRSS11E,UGT2B17 IS38143,MS15397 essv23402 4 68928830 69084476 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. TMPRSS11E NA10854 dgv1629e1 4 68928830 69150305 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14392,essv22467,essv17458,essv6574,essv19752,essv10249,essv11803,essv23836,essv18096,essv1998,essv20305,essv4583,essv22967,essv18610,essv2488,essv21825,essv22141,essv22031,essv24300,essv24373,essv20093,essv23177,essv13736,essv7763,essv911,essv19634,essv5912,essv24790,essv6363,essv20108,essv22625,essv23658,essv9617,essv8644,essv23481,essv20800,essv20175,essv288,essv17600,essv4387,essv10998,essv24047,essv3210,essv14167,essv21737,essv24918,essv22527,essv16328,essv19217,essv21052,essv23088,essv18862,essv17666,essv5167,essv17322,essv8931,essv22478,essv11439,essv8355,essv9104,essv24583,essv16716,essv21406,essv15349,essv21124,essv21459,essv9823,essv18341,essv15018,essv19092,essv10879,essv16733,essv17707,essv17897,essv11982,essv12720,essv21562,essv13201,essv18759,essv10407,essv1451,essv3416,essv23144,essv217,essv5135,essv24123,essv15826,essv4161,essv22814,essv2214,essv17246,essv22744,essv3533,essv6984,essv21978,essv11769,essv22187,essv10173,essv13627,essv11841 M 271 0 0 TMPRSS11E,UGT2B17 NA06991,NA06994,NA07019,NA07022,NA07034,NA07048,NA07055,NA07345,NA07348,NA07357,NA10835,NA10838,NA10847,NA10856,NA10857,NA10859,NA10860,NA10863,NA11832,NA11839,NA11881,NA11882,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12248,NA12707,NA12717,NA12740,NA12751,NA12752,NA12753,NA12761,NA12812,NA12815,NA12872,NA12873,NA12874,NA12891,NA18503,NA18504,NA18507,NA18517,NA18521,NA18524,NA18542,NA18550,NA18555,NA18564,NA18573,NA18577,NA18609,NA18612,NA18621,NA18856,NA18857,NA18858,NA18860,NA18862,NA18863,NA18870,NA18871,NA18872,NA18914,NA18944,NA18945,NA18948,NA18949,NA18960,NA18965,NA18974,NA18978,NA19000,NA19003,NA19102,NA19127,NA19130,NA19140,NA19141,NA19142,NA19143,NA19152,NA19153,NA19193,NA19200,NA19221,NA19222,NA19223,NA19239 dgv1630e1 4 68928830 70021079 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9996,essv10631,essv9206 M 271 0 0 TMPRSS11E,UGT2A3,UGT2B10,UGT2B15,UGT2B17,UGT2B7 NA18855,NA19099,NA19128 nsv428446 4 68928830 70302678 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454519,nssv454559,nssv454526,nssv454555,nssv454552,nssv454529,nssv454558,nssv454511,nssv454556,nssv454531,nssv454506,nssv454561,nssv454508,nssv454518,nssv454535,nssv454557,nssv454514,nssv454525,nssv454534,nssv454510,nssv454522,nssv454512,nssv454528,nssv454516,nssv454560,nssv454517,nssv454507,nssv454524,nssv454527,nssv454530,nssv454513,nssv454505,nssv454553,nssv454515,nssv454533,nssv454523 M 62 25 4 TMPRSS11E,UGT2A3,UGT2B10,UGT2B11,UGT2B15,UGT2B17,UGT2B28,UGT2B7 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv442909 4 68964800 68970737 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515011 4 68965048 68965744 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628510 S 1414 0 0 "" nsv514222 4 68965856 68966056 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627662 S 1414 0 0 "" dgv5581n71 4 68979434 69097539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879231,nsv879228,nsv879227,nsv879226,nsv879229 M 6533 0 7 TMPRSS11E,UGT2B17 IS36196,IS36689,IS38270,MS13373,MS20229,MS26001,SP54798 nsv820137 4 68981712 69401490 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418803 S 2 1 0 TMPRSS11E,UGT2B15,UGT2B17 AK1 nsv879230 4 68997831 69210001 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540413 S 6533 1 0 TMPRSS11E,UGT2B15,UGT2B17 MS14835 nsv10515 4 69023280 69025486 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13214 S 31 1 0 Samples from several populations that are part of the HapMap project. TMPRSS11E NA18517 dgv5582n71 4 69027229 69142622 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879241,nsv879247,nsv879238,nsv879232,nsv879268,nsv879246,nsv879237,nsv879242,nsv879234,nsv879244,nsv879233,nsv879249,nsv879269,nsv879243,nsv879245,nsv879248 M 6533 59 0 TMPRSS11E,UGT2B17 IS30435,IS30487,IS30520,IS30835,IS30884,IS30923,IS30976,IS31213,IS31323,IS31835,IS32429,IS33419,IS33600,IS33605,IS33749,IS33865,IS34709,IS35528,IS35682,IS37062,IS37738,IS37766,IS38472,IS38649,IS38972,IS39672,IS39929,IS40047,IS40157,IS40245,IS40802,IS40874,IS41243,IS41292,IS41497,IS41831,IS41874,IS41991,MS10638,MS11556,MS12822,MS13791,MS15014,MS15092,MS15803,MS16531,MS16934,MS18406,MS19159,MS19553,MS21315,MS21700,MS22000,MS25751,SP50761,SP53302,SP53997,SP54725,SP55662 dgv5583n71 4 69027229 69258302 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879288,nsv879289,nsv879236,nsv879259,nsv879273,nsv879301,nsv879262,nsv879261,nsv879303,nsv879235,nsv879260,nsv879258,nsv879257,nsv879302,nsv879287,nsv879291,nsv879290 M 6533 62 0 TMPRSS11E,UGT2B15,UGT2B17 IS31147,IS33263,IS33721,IS33776,IS34066,IS34821,IS34987,IS35195,IS35253,IS35516,IS36248,IS36667,IS37030,IS37167,IS37632,IS38144,IS38240,IS38294,IS38309,IS38382,IS38513,IS38694,IS39687,IS39886,IS40571,IS40849,IS40879,IS41051,MS10545,MS10820,MS11444,MS12041,MS12055,MS12913,MS13783,MS14644,MS14828,MS15704,MS16032,MS16153,MS16265,MS16455,MS17371,MS17508,MS18170,MS18956,MS19289,MS19638,MS20741,MS21789,MS23143,MS23236,MS23332,MS23582,MS24749,MS25139,MS25294,MS25696,MS26061,SP52719,SP56231,SP58382 nsv508286 4 69038713 69608858 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622489,nssv619936,nssv618738 M 4 0 3 TMPRSS11E,UGT2B15,UGT2B17 NA10860,NA15510,NA18994 dgv5584n71 4 69042934 69216088 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879239,nsv879314,nsv879255,nsv879315 M 6533 0 5 TMPRSS11E,UGT2B15,UGT2B17 IS30522,IS35911,IS38490,MS12466,MS15398 nsv442910 4 69043083 69168574 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TMPRSS11E,UGT2B17 dgv5585n71 4 69045672 69195500 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879252,nsv879253,nsv879272,nsv879271,nsv879270,nsv879256,nsv879240,nsv879250,nsv879251 M 6533 74 0 TMPRSS11E,UGT2B15,UGT2B17 IS32518,IS32843,IS33218,IS34108,IS34405,IS34473,IS35608,IS35910,IS35954,IS37698,IS38098,IS38335,IS38341,IS38410,IS38430,IS38810,IS40319,IS40347,IS40729,IS41895,IS41973,MS10296,MS10441,MS10699,MS10957,MS11105,MS12986,MS13330,MS13408,MS14737,MS14805,MS14907,MS15397,MS15545,MS15916,MS16176,MS16774,MS17572,MS18494,MS19584,MS19685,MS20813,MS21814,MS22273,MS24183,MS25306,MS25373,MS25396,MS25498,SP50144,SP50559,SP51067,SP51104,SP51267,SP51473,SP52299,SP52529,SP53368,SP54356,SP54535,SP54552,SP54583,SP54891,SP55121,SP55407,SP55424,SP55926,SP56072,SP56766,SP56794,SP56797,SP56852,SP56949,SP57686 dgv5586n71 4 69047457 69195500 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv879300,nsv879299,nsv879254 M 6533 218 357 UGT2B15,UGT2B17 IS30054,IS30067,IS30070,IS30197,IS30213,IS30226,IS30235,IS30284,IS30308,IS30317,IS30345,IS30369,IS30398,IS30409,IS30412,IS30423,IS30479,IS30508,IS30516,IS30609,IS30616,IS30742,IS30814,IS30824,IS31000,IS31022,IS31133,IS31211,IS31251,IS31306,IS31346,IS31390,IS31396,IS31481,IS31487,IS31546,IS31563,IS31703,IS31712,IS31728,IS31778,IS31812,IS31861,IS31875,IS32166,IS32306,IS32312,IS32343,IS32523,IS32615,IS32633,IS32664,IS32697,IS32704,IS32732,IS32777,IS32841,IS32888,IS32894,IS33040,IS33211,IS33219,IS33232,IS33239,IS33261,IS33262,IS33332,IS33372,IS33439,IS33531,IS33551,IS33566,IS33575,IS33669,IS33696,IS33724,IS33771,IS33774,IS33796,IS33812,IS33852,IS33857,IS33871,IS33888,IS34025,IS34055,IS34057,IS34124,IS34184,IS34218,IS34271,IS34360,IS34386,IS34416,IS34472,IS34491,IS34543,IS34599,IS34632,IS34714,IS34747,IS34750,IS34791,IS34805,IS34825,IS34830,IS34872,IS34895,IS34896,IS35018,IS35114,IS35169,IS35240,IS35390,IS35439,IS35461,IS35484,IS35495,IS35561,IS35566,IS35594,IS35704,IS35726,IS35728,IS35743,IS35782,IS35800,IS35862,IS35880,IS35963,IS35973,IS36071,IS36183,IS36244,IS36312,IS36337,IS36411,IS36465,IS36519,IS36570,IS36656,IS36726,IS36777,IS36963,IS36975,IS37098,IS37139,IS37248,IS37325,IS37543,IS37646,IS37684,IS37743,IS37771,IS37918,IS38054,IS38092,IS38094,IS38116,IS38126,IS38138,IS38153,IS38191,IS38202,IS38241,IS38329,IS38336,IS38379,IS38411,IS38417,IS38421,IS38438,IS38504,IS38521,IS38522,IS38535,IS38567,IS38572,IS38582,IS38592,IS38601,IS38617,IS38624,IS38640,IS38654,IS38688,IS38704,IS38818,IS38959,IS39119,IS39205,IS39321,IS39322,IS39330,IS39335,IS39360,IS39420,IS39428,IS39490,IS39493,IS39522,IS39642,IS39678,IS39784,IS39792,IS39958,IS39991,IS39999,IS40012,IS40031,IS40033,IS40039,IS40046,IS40062,IS40073,IS40130,IS40149,IS40205,IS40222,IS40223,IS40230,IS40240,IS40264,IS40267,IS40333,IS40334,IS40356,IS40374,IS40396,IS40440,IS40446,IS40449,IS40471,IS40473,IS40475,IS40490,IS40524,IS40556,IS40588,IS40625,IS40635,IS40636,IS40681,IS40685,IS40702,IS40703,IS40728,IS40734,IS40735,IS40737,IS40744,IS40769,IS40809,IS40825,IS40831,IS40839,IS40843,IS40851,IS40854,IS40872,IS40886,IS40902,IS40920,IS40954,IS40966,IS40989,IS41041,IS41042,IS41043,IS41102,IS41112,IS41168,IS41172,IS41204,IS41273,IS41296,IS41305,IS41308,IS41314,IS41331,IS41347,IS41410,IS41648,IS41687,IS41769,IS41780,IS41788,IS41791,IS41804,IS41808,IS41869,IS41905,IS41918,IS41939,IS41940,MS10115,MS10120,MS10126,MS10166,MS10282,MS10386,MS10517,MS10544,MS10567,MS10596,MS10611,MS10695,MS10777,MS10784,MS10797,MS10802,MS10816,MS11002,MS11004,MS11032,MS11057,MS11119,MS11194,MS11199,MS11220,MS11284,MS11337,MS11364,MS11396,MS11547,MS11565,MS11641,MS11715,MS11760,MS12088,MS12265,MS12286,MS12387,MS12439,MS12471,MS12482,MS12493,MS12667,MS12674,MS12721,MS12734,MS12782,MS12868,MS12886,MS12932,MS13095,MS13129,MS13205,MS13319,MS13727,MS13957,MS14260,MS14304,MS14316,MS14343,MS14385,MS14469,MS14544,MS14591,MS14658,MS14684,MS14724,MS14809,MS14923,MS14947,MS15036,MS15041,MS15060,MS15094,MS15234,MS15243,MS15341,MS15342,MS15383,MS15402,MS15502,MS15554,MS15571,MS15610,MS15672,MS15715,MS15749,MS15779,MS15804,MS15906,MS15926,MS15940,MS16049,MS16056,MS16066,MS16107,MS16206,MS16373,MS16376,MS16459,MS16493,MS16704,MS16711,MS16793,MS16859,MS16944,MS17056,MS17091,MS17106,MS17130,MS17216,MS17244,MS17399,MS17400,MS17438,MS17447,MS17484,MS17504,MS17562,MS17611,MS17705,MS17739,MS17968,MS17973,MS18011,MS18185,MS18192,MS18247,MS18251,MS18276,MS18332,MS18368,MS18453,MS18510,MS18552,MS18648,MS18652,MS18784,MS18787,MS18803,MS18837,MS18843,MS18894,MS18902,MS18947,MS18976,MS18978,MS19276,MS19460,MS19487,MS19517,MS19529,MS19637,MS19669,MS19955,MS20146,MS20152,MS20269,MS20406,MS20520,MS20563,MS20612,MS20627,MS20670,MS20797,MS20828,MS20850,MS20957,MS21090,MS21136,MS21194,MS21216,MS21242,MS21397,MS21506,MS21637,MS21649,MS21674,MS21924,MS22112,MS22166,MS22179,MS22245,MS22268,MS22322,MS22465,MS22499,MS22524,MS22662,MS22728,MS22748,MS22789,MS22807,MS22886,MS22968,MS23031,MS23079,MS23145,MS23165,MS23340,MS23531,MS23542,MS23577,MS23709,MS23878,MS23916,MS23958,MS24051,MS24141,MS24212,MS24225,MS24248,MS24280,MS24419,MS24427,MS24439,MS24447,MS24476,MS24479,MS24508,MS24600,MS24651,MS24774,MS24781,MS24796,MS24865,MS24867,MS24873,MS24935,MS25092,MS25112,MS25121,MS25241,MS25269,MS25303,MS25447,MS25486,MS25564,MS25831,SP50086,SP50178,SP50612,SP51311,SP52371,SP52724,SP52734,SP52859,SP52889,SP52893,SP52902,SP53147,SP53293,SP53392,SP53426,SP53603,SP53802,SP54905,SP54913,SP54916,SP54921,SP54930,SP56349,SP56381,SP56733,SP56757,SP56777,SP56870,SP57148,SP58241,SP58316,SP58432,SP58433,SP58537,SP80943,SP81109,SP81161,SP81241,SP81553,SP81557,SP81566 dgv5587n71 4 69047457 69405358 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879292,nsv879263 M 6533 7 0 UGT2B15,UGT2B17 IS33588,IS35078,IS41179,MS10074,MS13490,MS17208,MS21833 dgv5588n71 4 69049039 69124109 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv879264,nsv879293 M 6533 25 20 UGT2B17 SP50023,SP50574,SP50723,SP50753,SP50776,SP50796,SP50798,SP50857,SP50984,SP51056,SP51057,SP51082,SP51216,SP51440,SP51485,SP52019,SP52064,SP52095,SP52114,SP52117,SP52772,SP52835,SP52925,SP54189,SP54350,SP54407,SP54471,SP54577,SP54603,SP54750,SP55026,SP55219,SP55694,SP55765,SP55851,SP56089,SP56094,SP56185,SP57009,SP57238,SP57410,SP57485,SP58299,SP80930,SP81039 dgv5589n71 4 69049039 69129446 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879266,nsv879294,nsv879267,nsv879265,nsv879276,nsv879275,nsv879274,nsv879295 M 6533 0 20 UGT2B17 SP51167,SP52137,SP54370,SP54585,SP54636,SP54665,SP55747,SP55749,SP56013,SP56064,SP56085,SP56086,SP56126,SP56143,SP56331,SP57193,SP57328,SP57379,SP57404,SP57469 nsv820369 4 69051355 69236133 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420422 S 1 0 1 UGT2B15,UGT2B17 NA10851 nsv822582 4 69051355 69236133 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432781,nssv1425691,nssv1423340,nssv1422548,nssv1438765,nssv1439631,nssv1435028,nssv1433599,nssv1424144,nssv1425828,nssv1439374,nssv1432005,nssv1435817,nssv1421651,nssv1434365,nssv1430526,nssv1441016,nssv1428216,nssv1425374,nssv1428991,nssv1426597 M 31 0 21 UGT2B15,UGT2B17 AK10,AK12,AK16,AK20,AK4,AK6,NA18526,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18942,NA18947,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv1010584 4 69054733 69117268 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586154 S 3 0 1 UGT2B17 HuRef nsv10516 4 69054766 69236020 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13513,nssv13257,nssv13483,nssv13227,nssv12238,nssv14220,nssv12399,nssv13304,nssv12274,nssv12483,nssv29047,nssv12468,nssv11471,nssv11796,nssv11585,nssv13274,nssv11736,nssv13041,nssv13071,nssv12571,nssv12369,nssv11947,nssv12453,nssv12378,nssv13453,nssv11917,nssv11822,nssv12208,nssv12080,nssv12689,nssv12541,nssv14250,nssv11792,nssv12140,nssv12244,nssv13238,nssv11852,nssv12719,nssv13208,nssv13244,nssv12459,nssv12408,nssv12304,nssv13332,nssv29228,nssv11706 M 31 21 0 Samples from several populations that are part of the HapMap project. UGT2B15,UGT2B17 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18564,NA18853,NA18860,NA19132,NA19144,NA19173,NA19221,NA19240 esv28502 4 69054922 69225094 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11000,esv19429 M 451 37 0 UGT2B15,UGT2B17 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33605 4 69057352 69173564 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100801,essv94373,essv97057,essv95695,essv95463,essv99042,essv93607,essv100104,essv93401 M 51 0 9 UGT2B17 21656,21808,21817,21841,21847,21938,21972,22086,22170 dgv1631e1 4 69057414 69172267 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1084,essv1673,essv24612,essv21931,essv6509,essv955,essv1800,essv5986,essv6548,essv7651,essv4335,essv3603 M 271 0 0 UGT2B17 NA12057,NA12875,NA18552,NA18572,NA18622,NA18624,NA18632,NA18969,NA18971,NA18981,NA18990,NA18992 dgv1632e1 4 69057414 69666257 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18686,essv13996,essv6424,essv1546,essv23170,essv20492,essv16588,essv20679,essv19849,essv18047,essv6450,essv1980,essv19347,essv1060,essv18014,essv25061 M 271 0 0 TMPRSS11E,UGT2B15,UGT2B17 NA06985,NA06993,NA10831,NA12056,NA12234,NA12802,NA12874,NA12878,NA12892,NA18545,NA18592,NA18860,NA18942,NA18975,NA19012,NA19098 dgv875n67 4 69057495 69166367 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822584,nsv822583,nsv822585 M 31 0 7 UGT2B17 AK14,AK18,AK2,AK8,NA18542,NA18564,NA18949 esv30002 4 69057535 69166014 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84241 S 2 1 0 UGT2B17 HuRef esv2421501 4 69057536 69186276 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107021,essv5095721,essv5042714,essv5090466,essv5099493,essv5030452,essv5019345,essv5014264,essv5021809,essv5095568,essv5068068,essv5139546,essv5008585,essv5044360,essv5074806,essv5146593,essv5004738,essv5152407,essv5073748,essv5086765,essv5062924,essv5132677,essv5154986,essv5025096,essv5151265,essv5111261,essv5129196,essv5113179,essv5009148,essv5153404,essv5134574,essv5071900,essv5081525,essv5110974,essv5159664,essv5074086,essv5153282,essv5123311,essv5056732,essv5042528,essv5094726,essv5024161,essv5031263,essv5033239,essv5073599,essv5003483,essv5135567,essv5042613,essv5147809,essv5139385,essv5028900,essv5078988,essv5002574,essv5076779,essv5002225,essv5052785,essv5118985,essv5081568,essv5033751,essv5091400,essv5022195,essv5094232,essv5092270,essv5134972,essv5137703,essv5105448,essv5075265,essv5122293,essv5044109,essv5109072,essv5030476,essv5113255,essv5062310,essv5075787,essv5110859,essv5093340,essv5130427,essv5044486,essv5051955,essv5104228,essv5034761,essv5004644,essv5096049,essv5012843,essv5024302,essv5144907,essv5155765,essv5042014,essv5031535,essv5055555,essv5049153,essv5033208,essv5040137,essv5139981,essv5073848,essv5025172,essv5152758,essv5121388,essv5136745,essv5008764,essv5134453,essv5081223,essv5149531,essv5088039,essv5018264,essv5041014,essv5051709,essv5081332,essv5142763,essv5155211,essv5133709,essv5023787,essv5131772,essv5134386,essv5155689,essv5052252,essv5053086,essv5139055,essv5130407,essv5044504,essv5053529,essv5065487,essv5100677,essv5136874,essv5089728,essv5113327,essv5054102,essv5013902,essv5048100,essv5147275,essv5060825,essv5059995,essv5068471,essv5016301,essv5033515,essv5011823,essv5063246,essv5097304,essv5143159,essv5137406,essv5034891,essv5051103,essv5024524,essv5155395,essv5013166,essv5010834,essv5097241,essv5047105,essv5016329,essv5160587,essv5102511,essv5153757,essv5022530,essv5117302,essv5010369,essv5077713,essv5018334,essv5109193,essv5071755,essv5138508,essv5046030,essv5029677,essv5126301,essv5082228,essv5096922,essv5052604,essv5068541,essv5004485,essv5110050,essv5050161,essv5155384,essv5051847,essv5106001,essv5059472,essv5135689,essv5136190,essv5105173,essv5119465,essv5038446,essv5081012,essv5040694,essv5136776,essv5018395,essv5054125,essv5114830,essv5158055,essv5122019,essv5064552,essv5140300,essv5065421,essv5101752,essv5137814,essv5107759,essv5044829,essv5113425,essv5062650,essv5043998,essv5097672,essv5101293,essv5091696,essv5123819,essv5010076,essv5053789,essv5052046,essv5033001,essv5106375,essv5042349,essv5107698,essv5061770,essv5132571,essv5092655,essv5058816,essv5113189,essv5044612,essv5145434,essv5118322,essv5063290,essv5068289,essv5083482,essv5029068,essv5120937,essv5078257,essv5152760,essv5119876,essv5095966,essv5144732,essv5068827,essv5021568,essv5027632,essv5079516,essv5129469,essv5146643,essv5036264,essv5130063,essv5046912,essv5067824,essv5007418,essv5137042,essv5143941,essv5106783,essv5148670,essv5075540,essv5140128,essv5034522,essv5051945,essv5078009,essv5041442,essv5087296,essv5139048,essv5057797,essv5002934,essv5092908,essv5044246,essv5009712,essv5147681,essv5121110,essv5146603,essv5101691,essv5045127,essv5018734,essv5140838,essv5037166,essv5106627,essv5119855,essv5091298,essv5027785,essv5066939,essv5066061,essv5055387,essv5146219,essv5150065,essv5107501,essv5108069,essv5001901,essv5149233,essv5047777,essv5015988,essv5097132,essv5008614,essv5158130,essv5119676,essv5099034,essv5154540,essv5139452,essv5133351,essv5140825,essv5038460,essv5070024,essv5041358,essv5011804,essv5113251,essv5110804,essv5016392,essv5133158,essv5018064,essv5051889,essv5108737,essv5108324,essv5047669,essv5152770,essv5149441,essv5125720,essv5018883,essv5105680,essv5152733,essv5028637,essv5145296,essv5105824,essv5068110,essv5024083,essv5051729,essv5040753,essv5013456,essv5132717,essv5136858,essv5059634,essv5104264,essv5074862,essv5137400,essv5023695,essv5004427,essv5150073,essv5145522,essv5127359,essv5009880,essv5140155,essv5073999,essv5034759,essv5115872,essv5132343,essv5118638,essv5097998,essv5044981,essv5159330,essv5118015,essv5005160,essv5128468,essv5132157,essv5099012,essv5039770,essv5111819,essv5161135,essv5160950,essv5037775,essv5133574,essv5114946,essv5012069,essv5039077,essv5007116,essv5056519,essv5157789,essv5071912,essv5081792,essv5126618,essv5056188,essv5156418,essv5122202,essv5155505,essv5095989,essv5120229,essv5119470,essv5051279,essv5056162,essv5100810,essv5094076,essv5149722,essv5087335,essv5014835,essv5029340,essv5097339,essv5157004,essv5112956,essv5031750,essv5114053,essv5096445,essv5108063,essv5026607,essv5110616,essv5160384,essv5083443,essv5143632,essv5118855,essv5161064,essv5073659,essv5026801,essv5058042,essv5010771,essv5111102,essv5139924,essv5146211,essv5133786,essv5091173,essv5085392,essv5104844,essv5088715,essv5037031,essv5095899,essv5032815,essv5031692,essv5078849,essv5147616,essv5117940,essv5006957,essv5046144,essv5129164,essv5022819,essv5128244,essv5008739,essv5037839,essv5153487,essv5135275,essv5062729,essv5011967,essv5089758,essv5074321,essv5053595,essv5085352,essv5099377,essv5031793,essv5140630,essv5044994,essv5028666,essv5117360,essv5150609,essv5057385,essv5045964,essv5063681,essv5067825,essv5140533,essv5011661,essv5072116,essv5079379,essv5076349,essv5112255,essv5015547,essv5030350,essv5047463,essv5124965,essv5022062,essv5132077,essv5064734,essv5029977,essv5141922,essv5149279,essv5097976,essv5104374,essv5086129,essv5013423,essv5153675,essv5144431,essv5151727,essv5151297,essv5031542,essv5067235,essv5029475,essv5022640,essv5121929,essv5019638,essv5043896,essv5065501,essv5078660,essv5118605,essv5055582,essv5061168,essv5144107,essv5114848,essv5133325,essv5160704,essv5081225,essv5034021,essv5077340,essv5064480,essv5024543,essv5034951,essv5042553,essv5122836,essv5069131,essv5035279,essv5010630,essv5137039,essv5024379,essv5134687,essv5048630,essv5152415,essv5101593,essv5082363,essv5052195,essv5103012,essv5073895,essv5105458,essv5003548,essv5010774,essv5047502,essv5080056,essv5024911,essv5145996,essv5019602,essv5050471,essv5114015,essv5148610,essv5106761,essv5066338,essv5090511,essv5111632,essv5092544,essv5117011,essv5126005,essv5010036,essv5032879,essv5149698,essv5075110,essv5053573,essv5135497,essv5103423,essv5134524,essv5070163,essv5088125,essv5152668,essv5010506,essv5118037,essv5136672,essv5052674,essv5113849,essv5008017,essv5071556,essv5131339,essv5110189,essv5058072,essv5130567,essv5159949,essv5145979,essv5156881,essv5082941,essv5090717,essv5111338,essv5118720,essv5009461,essv5052079,essv5106088,essv5109374,essv5050659,essv5095331,essv5098820,essv5047949,essv5057881,essv5006133,essv5030536,essv5061460,essv5052422,essv5099857,essv5087730,essv5064370,essv5077140,essv5070310,essv5047179,essv5147860,essv5062861,essv5035277,essv5063243,essv5116164,essv5049149,essv5002597,essv5136410,essv5043836,essv5044571,essv5138535,essv5094651,essv5012755,essv5154399,essv5030668,essv5074940,essv5068961,essv5024092,essv5032350,essv5059676,essv5074116,essv5033994,essv5087198,essv5091185,essv5151705,essv5046561,essv5021360,essv5140978,essv5099549,essv5054570,essv5065238,essv5025856,essv5016448,essv5149611,essv5143001,essv5094846,essv5051251,essv5054302,essv5136990,essv5051144,essv5068713,essv5003671,essv5019032,essv5126881,essv5068282,essv5026426,essv5160485,essv5144577,essv5014688,essv5131065,essv5014700,essv5116618,essv5154387,essv5039459,essv5046568,essv5064252,essv5139362,essv5142726,essv5091879,essv5022420,essv5047839,essv5052000,essv5116580,essv5075521,essv5030007,essv5019017,essv5072670,essv5067624,essv5077200,essv5014005,essv5012224,essv5124615,essv5123628,essv5098571,essv5085079,essv5130227,essv5031341,essv5020196,essv5099979,essv5025426,essv5076946,essv5093271,essv5055244,essv5054622,essv5104874,essv5122560,essv5089502,essv5121283,essv5104498,essv5066366,essv5125255,essv5069506,essv5038664,essv5148612,essv5065480,essv5070543,essv5059576,essv5145903,essv5017909,essv5098653,essv5066655,essv5143978,essv5079478,essv5077344,essv5030851,essv5124771,essv5104738,essv5037950,essv5127912,essv5052112,essv5137454,essv5129625,essv5072016,essv5069479,essv5059774,essv5125973,essv5069803,essv5012935,essv5060683,essv5158956,essv5065673,essv5013685,essv5123957,essv5019964,essv5155708,essv5025269,essv5119508,essv5088008,essv5044650,essv5080578,essv5007906,essv5095073,essv5057181,essv5010108,essv5075975,essv5128362,essv5004638,essv5047604,essv5112511,essv5025917,essv5030806,essv5093406,essv5005007,essv5117107,essv5006029,essv5132560,essv5115605,essv5010478,essv5066915,essv5072552,essv5093875,essv5052186,essv5143392,essv5110395,essv5041967,essv5008821,essv5124713,essv5058585,essv5039977,essv5028863,essv5158771,essv5049974,essv5010999,essv5096205,essv5119917,essv5032669,essv5144816,essv5140592,essv5116616,essv5023815,essv5100200,essv5098336,essv5148056,essv5084180,essv5062378,essv5016413,essv5126662,essv5122808,essv5145568,essv5068935,essv5099454,essv5154033,essv5025013,essv5114515,essv5133225,essv5148237,essv5156165,essv5096723,essv5117660,essv5156457,essv5097577,essv5020864,essv5005656,essv5014464,essv5047516,essv5084082,essv5125656,essv5155373,essv5124955,essv5017015,essv5023853,essv5048005,essv5082180,essv5054920,essv5142935,essv5053457,essv5041818,essv5155236,essv5145840,essv5128240,essv5057005,essv5015519,essv5140145,essv5108335,essv5029969,essv5012748,essv5063384,essv5147476,essv5129982 M 1184 0 774 UGT2B17 NA06986,NA06994,NA06997,NA07029,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07435,NA10831,NA10836,NA10837,NA10838,NA10843,NA10846,NA10850,NA10856,NA10861,NA10863,NA10865,NA11829,NA11830,NA11832,NA11839,NA11843,NA11882,NA11891,NA11892,NA11917,NA11918,NA11919,NA11920,NA11931,NA11992,NA11995,NA12043,NA12045,NA12056,NA12057,NA12145,NA12154,NA12155,NA12156,NA12248,NA12264,NA12272,NA12275,NA12286,NA12335,NA12340,NA12342,NA12343,NA12376,NA12383,NA12400,NA12413,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12749,NA12750,NA12751,NA12752,NA12761,NA12766,NA12767,NA12776,NA12777,NA12801,NA12813,NA12815,NA12818,NA12827,NA12829,NA12830,NA12832,NA12843,NA12864,NA12873,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18485,NA18487,NA18500,NA18503,NA18504,NA18517,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18855,NA18857,NA18858,NA18860,NA18862,NA18863,NA18868,NA18869,NA18870,NA18871,NA18872,NA18910,NA18911,NA18916,NA18930,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19095,NA19096,NA19098,NA19102,NA19107,NA19108,NA19109,NA19113,NA19115,NA19118,NA19119,NA19130,NA19137,NA19140,NA19142,NA19143,NA19146,NA19147,NA19148,NA19149,NA19150,NA19159,NA19160,NA19161,NA19172,NA19173,NA19182,NA19184,NA19185,NA19186,NA19191,NA19200,NA19202,NA19209,NA19213,NA19215,NA19224,NA19225,NA19236,NA19237,NA19239,NA19240,NA19257,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19317,NA19319,NA19321,NA19324,NA19327,NA19328,NA19347,NA19350,NA19352,NA19372,NA19374,NA19375,NA19376,NA19377,NA19380,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19397,NA19403,NA19404,NA19428,NA19429,NA19431,NA19434,NA19437,NA19439,NA19443,NA19444,NA19445,NA19446,NA19448,NA19451,NA19452,NA19455,NA19456,NA19463,NA19468,NA19471,NA19472,NA19625,NA19649,NA19651,NA19652,NA19653,NA19657,NA19659,NA19660,NA19661,NA19662,NA19664,NA19676,NA19677,NA19678,NA19684,NA19686,NA19701,NA19703,NA19711,NA19712,NA19716,NA19720,NA19722,NA19723,NA19746,NA19747,NA19748,NA19750,NA19751,NA19755,NA19757,NA19761,NA19763,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19781,NA19783,NA19788,NA19795,NA19834,NA19908,NA19914,NA19915,NA19917,NA19919,NA19921,NA19985,NA20281,NA20289,NA20292,NA20294,NA20295,NA20297,NA20301,NA20302,NA20317,NA20332,NA20333,NA20336,NA20340,NA20343,NA20344,NA20345,NA20346,NA20359,NA20360,NA20502,NA20504,NA20508,NA20509,NA20515,NA20518,NA20520,NA20521,NA20522,NA20525,NA20527,NA20528,NA20530,NA20531,NA20538,NA20539,NA20543,NA20544,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20757,NA20758,NA20759,NA20761,NA20766,NA20769,NA20770,NA20771,NA20785,NA20787,NA20795,NA20796,NA20797,NA20799,NA20801,NA20803,NA20804,NA20805,NA20808,NA20810,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20851,NA20853,NA20854,NA20858,NA20861,NA20862,NA20866,NA20869,NA20870,NA20872,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20895,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21316,NA21317,NA21318,NA21333,NA21339,NA21344,NA21353,NA21355,NA21359,NA21361,NA21362,NA21366,NA21367,NA21371,NA21378,NA21379,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21390,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21420,NA21421,NA21423,NA21424,NA21438,NA21440,NA21441,NA21442,NA21448,NA21451,NA21454,NA21455,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21486,NA21487,NA21489,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21524,NA21526,NA21527,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21617,NA21619,NA21631,NA21635,NA21647,NA21650,NA21678,NA21682,NA21685,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21768,NA21776,NA21784,NA21825 esv29960 4 69057735 69165872 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84199 S 3 1 0 UGT2B17 WATSON nsv509907 4 69063936 69069936 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618171,nssv621236 M 4 0 2 "" CHM,NA15510 dgv5590n71 4 69064675 69139402 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879298,nsv879279,nsv879277,nsv879297,nsv879278,nsv879296,nsv879280,nsv879281 M 6533 20 0 UGT2B17 IS30294,IS31054,IS31218,IS31419,IS32329,IS35895,IS36798,IS37860,IS38128,IS38262,IS38274,IS38416,IS40329,IS40643,IS41025,IS41824,IS41889,SP52732,SP54127,SP81047 dgv5591n71 4 69064675 69195500 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879284,nsv879305,nsv879282,nsv879283,nsv879285,nsv879286 M 6533 51 0 UGT2B15,UGT2B17 IS30483,IS30781,IS31359,IS31401,IS31765,IS32446,IS32532,IS32990,IS32992,IS33143,IS33519,IS33691,IS33948,IS34648,IS34755,IS35509,IS35554,IS35940,IS36893,IS37172,IS37964,IS38269,IS38313,IS38494,IS38612,IS39355,IS39716,IS40055,IS40234,IS40349,IS40502,IS40883,IS41193,IS41647,IS41795,IS41798,IS41875,MS10549,MS10721,MS11159,MS14522,MS14764,MS15748,MS17232,MS17869,MS18182,MS18531,MS23609,MS24769,SP50156,SP54043 nsv514223 4 69069560 69165912 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627663 S 1414 0 1 UGT2B17 nsv511249 4 69070973 69179871 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624666 S 1 0 1 UGT2B17 1 dgv876n67 4 69075537 69085588 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822589,nsv822588 M 31 0 3 UGT2B17 AK2,AK8,NA18949 dgv5592n71 4 69076097 69163188 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879304,nsv879331 M 6533 2 0 UGT2B17 IS30076,IS38542 dgv26n14 4 69076097 69179871 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433219,nsv433220 M 9 0 2 UGT2B17 NA12156,NA18555 dgv5593n71 4 69076183 69126340 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879306,nsv879307 M 6533 2 0 UGT2B17 SP50038,SP55223 dgv5594n71 4 69076346 69163188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879322,nsv879316,nsv879308,nsv879321,nsv879317,nsv879309 M 6533 0 19 UGT2B17 MS10121,MS10580,MS13800,MS23775,SP52393,SP53625,SP54337,SP54798,SP54942,SP54973,SP56348,SP56903,SP56904,SP58387,SP81202,SP81239,SP81275,SP81324,SP81560 dgv5595n71 4 69076346 69195500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879311,nsv879324,nsv879319,nsv879318,nsv879320,nsv879312,nsv879310,nsv879323,nsv879325,nsv879313 M 6533 0 2466 UGT2B15,UGT2B17 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SP51237,SP51242,SP51256,SP51257,SP51259,SP51264,SP51280,SP51290,SP51292,SP51296,SP51297,SP51332,SP51342,SP51345,SP51350,SP51356,SP51359,SP51376,SP51377,SP51379,SP51380,SP51389,SP51391,SP51402,SP51403,SP52110,SP52187,SP52197,SP52202,SP52220,SP52243,SP52253,SP52263,SP52264,SP52271,SP52292,SP52303,SP52318,SP52320,SP52329,SP52331,SP52341,SP52349,SP52350,SP52351,SP52353,SP52359,SP52364,SP52365,SP52369,SP52376,SP52378,SP52379,SP52381,SP52386,SP52412,SP52416,SP52419,SP52427,SP52428,SP52430,SP52454,SP52456,SP52458,SP52464,SP52506,SP52518,SP52523,SP52545,SP52553,SP52562,SP52568,SP52571,SP52572,SP52587,SP52593,SP52594,SP52599,SP52612,SP52614,SP52621,SP52625,SP52626,SP52627,SP52634,SP52648,SP52655,SP52680,SP52685,SP52689,SP52692,SP52694,SP52701,SP52723,SP52731,SP52740,SP52751,SP52754,SP52759,SP52787,SP52800,SP52816,SP52829,SP52830,SP52851,SP52863,SP52872,SP52881,SP52886,SP52921,SP52933,SP52955,SP52982,SP52986,SP53003,SP53023,SP53051,SP53083,SP53184,SP53196,SP53221,SP53240,SP53250,SP53256,SP53259,SP53260,SP53262,SP53323,SP53329,SP53332,SP53399,SP53401,SP53407,SP53415,SP53441,SP53444,SP53447,SP53449,SP53451,SP53471,SP53474,SP53491,SP53493,SP53508,SP53509,SP53513,SP53515,SP53516,SP53527,SP53531,SP53539,SP53550,SP53560,SP53569,SP53596,SP53602,SP53616,SP53670,SP53705,SP53709,SP53725,SP53728,SP53759,SP53781,SP53834,SP53838,SP53857,SP53895,SP53914,SP53933,SP53972,SP53987,SP53994,SP53999,SP54023,SP54026,SP54048,SP54060,SP54063,SP54072,SP54087,SP54090,SP54092,SP54099,SP54108,SP54112,SP54117,SP54118,SP54119,SP54123,SP54134,SP54139,SP54162,SP54164,SP54166,SP54177,SP54183,SP54190,SP54191,SP54197,SP54223,SP54226,SP54227,SP54230,SP54236,SP54239,SP54249,SP54268,SP54275,SP54284,SP54286,SP54295,SP54311,SP54312,SP54317,SP54792,SP54802,SP54812,SP54832,SP54833,SP54836,SP54838,SP54845,SP54846,SP54853,SP54859,SP54894,SP54941,SP54957,SP54958,SP54966,SP54975,SP54990,SP54993,SP54994,SP54999,SP55003,SP55005,SP55007,SP55010,SP55013,SP55022,SP55024,SP55028,SP55029,SP55061,SP55064,SP55084,SP55086,SP55092,SP55107,SP55110,SP55117,SP55126,SP55134,SP55138,SP55146,SP55156,SP55167,SP55183,SP55189,SP55200,SP55209,SP55256,SP55261,SP55269,SP55278,SP55290,SP55302,SP55304,SP55321,SP55339,SP55348,SP55349,SP55352,SP55353,SP55360,SP55362,SP55369,SP55386,SP55388,SP55394,SP55405,SP55417,SP55423,SP55456,SP55460,SP55470,SP55473,SP55493,SP55494,SP55498,SP55500,SP55508,SP55513,SP55526,SP55610,SP55750,SP56339,SP56342,SP56343,SP56367,SP56370,SP56377,SP56387,SP56390,SP56400,SP56410,SP56418,SP56426,SP56448,SP56533,SP56539,SP56542,SP56543,SP56574,SP56580,SP56582,SP56614,SP56631,SP56658,SP56663,SP56676,SP56690,SP56701,SP56726,SP56731,SP56748,SP56762,SP56773,SP56780,SP56802,SP56803,SP56805,SP56807,SP56818,SP56830,SP56840,SP56841,SP56845,SP56851,SP56863,SP56875,SP56882,SP56906,SP56912,SP56914,SP56936,SP56952,SP56957,SP56983,SP56986,SP56991,SP56993,SP56995,SP57005,SP57008,SP57037,SP57049,SP57058,SP57061,SP57062,SP57070,SP57073,SP57105,SP57113,SP57138,SP57140,SP57158,SP57160,SP57165,SP57174,SP57176,SP57181,SP57188,SP57534,SP57536,SP57540,SP57564,SP57574,SP57580,SP57585,SP57589,SP57593,SP57600,SP57604,SP57610,SP57634,SP57642,SP57662,SP57665,SP57673,SP57675,SP57679,SP57681,SP57689,SP57700,SP57701,SP57716,SP57717,SP57723,SP57726,SP57728,SP57730,SP57734,SP57742,SP57771,SP57789,SP57831,SP57852,SP57865,SP57875,SP57884,SP57886,SP57891,SP57945,SP57951,SP57958,SP57959,SP57965,SP57970,SP57986,SP58003,SP58008,SP58026,SP58047,SP58053,SP58062,SP58068,SP58077,SP58090,SP58097,SP58108,SP58132,SP58161,SP58166,SP58168,SP58202,SP58205,SP58208,SP58209,SP58218,SP58236,SP58240,SP58249,SP58257,SP58259,SP58306,SP58310,SP58318,SP58325,SP58343,SP58355,SP58377,SP58389,SP58400,SP58404,SP58408,SP58416,SP58443,SP58450,SP58467,SP58480,SP58505,SP58506,SP58536,SP58548,SP58558,SP58575,SP80909,SP80913,SP80916,SP80917,SP80919,SP80931,SP80937,SP80938,SP80945,SP80947,SP80960,SP80969,SP80980,SP80994,SP81020,SP81030,SP81040,SP81061,SP81068,SP81072,SP81076,SP81077,SP81080,SP81090,SP81092,SP81105,SP81107,SP81114,SP81119,SP81120,SP81131,SP81132,SP81135,SP81144,SP81145,SP81146,SP81149,SP81152,SP81156,SP81160,SP81168,SP81181,SP81182,SP81187,SP81189,SP81197,SP81203,SP81211,SP81212,SP81213,SP81226,SP81228,SP81238,SP81240,SP81242,SP81243,SP81250,SP81251,SP81254,SP81255,SP81260,SP81265,SP81276,SP81280,SP81326,SP81333,SP81335,SP81339,SP81345,SP81347,SP81348,SP81349,SP81355,SP81356,SP81359,SP81361,SP81363,SP81364,SP81365,SP81367,SP81381,SP81383,SP81385,SP81386,SP81387,SP81388,SP81389,SP81408,SP81412,SP81416,SP81422,SP81431,SP81432,SP81438,SP81440,SP81448,SP81452,SP81454,SP81459,SP81461,SP81464,SP81467,SP81469,SP81471,SP81475,SP81485,SP81488,SP81491,SP81495,SP81500,SP81501,SP81504,SP81505,SP81508,SP81512,SP81533,SP81534,SP81536,SP81538,SP81543,SP81574,SP81578 dgv89n17 4 69086425 69130929 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436940,nsv436939 M 60 0 2 UGT2B17 NA12707,NA12801 dgv5596n71 4 69087412 69216088 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv879326,nsv879336 M 6533 4 3 UGT2B15,UGT2B17 IS30277,IS34363,IS37270,IS40345,MS15389,MS22770,MS24045 dgv5597n71 4 69087412 69239365 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879327,nsv879335,nsv879337,nsv879338 M 6533 22 0 UGT2B15,UGT2B17 IS31570,IS31821,IS31991,IS33070,IS33148,IS33221,IS33256,IS33547,IS33795,IS34439,IS34523,IS34612,IS35177,IS39343,IS40103,IS40254,IS40511,IS40538,IS41908,MS22930,MS24139,SP52500 dgv5598n71 4 69097539 69131958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879329,nsv879328 M 6533 0 6 UGT2B17 SP51481,SP54468,SP54556,SP54581,SP54682,SP55553 nsv879330 4 69097539 69139402 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566412 S 6533 1 0 UGT2B17 IS30694 nsv879332 4 69097539 69179871 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574823,nssv1545085,nssv1573395,nssv1576820,nssv1590780,nssv1576152,nssv1565370,nssv1523808,nssv1577659,nssv1585522,nssv1526557,nssv1598589,nssv1595219,nssv1591230,nssv1539945,nssv1526507,nssv1577348,nssv1579551,nssv1562086,nssv1564202,nssv1583694,nssv1599271,nssv1600118,nssv1564169,nssv1583506,nssv1551957,nssv1521591,nssv1565490,nssv1593875,nssv1585644,nssv1576518,nssv1599296 M 6533 22 10 UGT2B17 IS30174,IS30180,IS30407,IS30432,IS33345,IS33632,IS33890,IS34083,IS34257,IS34409,IS34518,IS35129,IS36521,IS36594,IS37498,IS37591,IS38585,IS38658,IS39564,IS40186,IS40942,IS41524,IS41562,IS41842,MS14630,MS16647,MS19035,MS25369,SP52448,SP54217,SP57603,SP57659 dgv5599n71 4 69097539 69195500 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879333,nsv879334 M 6533 7 0 UGT2B15,UGT2B17 IS30322,IS30562,IS30883,IS32006,IS36910,IS40521,SP51265 dgv877n67 4 69099927 69109808 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822591,nsv822590 M 31 0 2 UGT2B17 AK2,NA18949 nsv436941 4 69107786 69125689 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466822 S 60 0 1 Samples from several populations that are part of the HapMap project. UGT2B17 NA10846 dgv91n17 4 69107786 69147306 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437390,nsv436942 M 60 0 2 UGT2B17 NA10857,NA18500 nsv879339 4 69107957 69179871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499566,nssv1508159,nssv1502193,nssv1506854,nssv1517786 M 6533 0 5 UGT2B17 SP50561,SP51019,SP54409,SP54579,SP57368 nsv822592 4 69116691 69121005 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437386 S 31 0 1 UGT2B17 NA18949 dgv5600n71 4 69117090 69179871 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv879340,nsv879357 M 6533 24 2 "" IS30294,IS32329,IS33087,IS33749,IS33865,IS35895,IS36798,IS37062,IS37860,IS38152,IS38198,IS38274,IS38649,IS38972,IS39499,IS40192,IS40245,IS40368,IS40643,IS40802,IS40874,IS40956,IS41497,MS16128,MS19553,MS23697 dgv5601n71 4 69117090 69195500 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879359,nsv879341 M 6533 2 0 UGT2B15 IS36785,MS18406 dgv5602n71 4 69117090 69226833 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879342,nsv879362,nsv879361,nsv879360 M 6533 7 0 UGT2B15 IS31835,IS33140,IS34555,IS34912,IS35329,IS39680,IS40310 dgv5603n71 4 69117497 69163108 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879343,nsv879354,nsv879350 M 6533 0 20 "" IS30051,MS17503,MS25345,SP50766,SP50783,SP51192,SP51260,SP52493,SP53473,SP54225,SP54774,SP54875,SP54879,SP55160,SP55829,SP56136,SP56922,SP57226,SP57651,SP81024 dgv5604n71 4 69117497 69179871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879351,nsv879345,nsv879352,nsv879349,nsv879347,nsv879344,nsv879348,nsv879356,nsv879363,nsv879353,nsv879346,nsv879358 M 6533 0 646 "" IS38395,SP50017,SP50025,SP50027,SP50029,SP50032,SP50035,SP50043,SP50063,SP50066,SP50073,SP50074,SP50077,SP50082,SP50084,SP50085,SP50087,SP50097,SP50098,SP50099,SP50107,SP50109,SP50116,SP50117,SP50118,SP50120,SP50125,SP50129,SP50134,SP50148,SP50159,SP50171,SP50176,SP50183,SP50519,SP50520,SP50521,SP50523,SP50530,SP50535,SP50562,SP50585,SP50598,SP50615,SP50637,SP50652,SP50663,SP50690,SP50691,SP50695,SP50725,SP50754,SP50802,SP50823,SP50850,SP50856,SP50859,SP50877,SP50880,SP50882,SP50900,SP50904,SP50908,SP50914,SP50915,SP50916,SP50921,SP50925,SP50927,SP50940,SP50942,SP50943,SP50954,SP50963,SP50973,SP50977,SP50979,SP50985,SP50996,SP50997,SP50998,SP51007,SP51016,SP51021,SP51022,SP51025,SP51030,SP51031,SP51035,SP51040,SP51043,SP51049,SP51054,SP51056,SP51057,SP51058,SP51060,SP51062,SP51069,SP51082,SP51086,SP51108,SP51109,SP51118,SP51132,SP51140,SP51144,SP51145,SP51147,SP51161,SP51167,SP51175,SP51196,SP51206,SP51226,SP51244,SP51254,SP51293,SP51302,SP51309,SP51338,SP51339,SP51353,SP51368,SP51398,SP51411,SP51413,SP51419,SP51422,SP51427,SP51432,SP51436,SP51439,SP51449,SP51450,SP51460,SP51469,SP51477,SP51480,SP51481,SP51485,SP51486,SP51489,SP51499,SP51506,SP52003,SP52008,SP52019,SP52025,SP52027,SP52035,SP52039,SP52051,SP52053,SP52057,SP52060,SP52077,SP52081,SP52082,SP52094,SP52095,SP52109,SP52113,SP52114,SP52117,SP52124,SP52130,SP52131,SP52137,SP52139,SP52147,SP52160,SP52172,SP52174,SP52175,SP52195,SP52231,SP52234,SP52255,SP52270,SP52274,SP52308,SP52390,SP52399,SP52409,SP52431,SP52432,SP52439,SP52455,SP52470,SP52475,SP52497,SP52531,SP52543,SP52566,SP52582,SP52588,SP52590,SP52607,SP52656,SP52661,SP52676,SP52677,SP52688,SP52700,SP52708,SP52716,SP52717,SP52728,SP52729,SP52761,SP52762,SP52782,SP52835,SP52858,SP52868,SP52914,SP52925,SP52946,SP53036,SP53041,SP53044,SP53048,SP53060,SP53276,SP53317,SP53320,SP53330,SP53333,SP53347,SP53349,SP53402,SP53425,SP53440,SP53448,SP53458,SP53490,SP53528,SP53572,SP53583,SP53601,SP53687,SP53719,SP53724,SP53734,SP53791,SP53821,SP53827,SP53859,SP53863,SP53883,SP53885,SP53894,SP53964,SP53969,SP53990,SP54002,SP54049,SP54050,SP54078,SP54083,SP54095,SP54173,SP54196,SP54285,SP54294,SP54299,SP54362,SP54367,SP54370,SP54373,SP54381,SP54383,SP54384,SP54389,SP54393,SP54395,SP54399,SP54401,SP54402,SP54405,SP54406,SP54407,SP54408,SP54424,SP54429,SP54448,SP54455,SP54461,SP54468,SP54477,SP54478,SP54480,SP54489,SP54510,SP54516,SP54524,SP54526,SP54532,SP54544,SP54556,SP54559,SP54561,SP54580,SP54581,SP54585,SP54587,SP54591,SP54593,SP54604,SP54606,SP54607,SP54617,SP54620,SP54622,SP54625,SP54627,SP54635,SP54636,SP54645,SP54648,SP54650,SP54652,SP54661,SP54663,SP54665,SP54666,SP54672,SP54680,SP54681,SP54682,SP54684,SP54685,SP54693,SP54704,SP54720,SP54722,SP54726,SP54734,SP54747,SP54760,SP54761,SP54766,SP54769,SP54776,SP54782,SP54790,SP54803,SP54808,SP54816,SP54822,SP54884,SP54892,SP54935,SP54937,SP54956,SP54967,SP54979,SP54983,SP54988,SP55019,SP55027,SP55034,SP55039,SP55077,SP55100,SP55102,SP55106,SP55125,SP55131,SP55174,SP55195,SP55212,SP55257,SP55264,SP55265,SP55277,SP55287,SP55310,SP55312,SP55318,SP55345,SP55346,SP55355,SP55381,SP55382,SP55401,SP55433,SP55436,SP55462,SP55465,SP55469,SP55488,SP55509,SP55511,SP55539,SP55548,SP55553,SP55557,SP55558,SP55565,SP55567,SP55569,SP55571,SP55573,SP55596,SP55597,SP55621,SP55624,SP55630,SP55647,SP55649,SP55650,SP55652,SP55663,SP55670,SP55671,SP55683,SP55690,SP55692,SP55694,SP55695,SP55699,SP55715,SP55729,SP55747,SP55748,SP55749,SP55763,SP55764,SP55774,SP55791,SP55795,SP55803,SP55807,SP55820,SP55822,SP55834,SP55842,SP55847,SP55851,SP55852,SP55868,SP55882,SP55883,SP55886,SP55911,SP55914,SP55915,SP55937,SP55946,SP55966,SP55984,SP55986,SP55992,SP55996,SP56002,SP56005,SP56007,SP56013,SP56023,SP56029,SP56032,SP56041,SP56042,SP56047,SP56064,SP56084,SP56085,SP56086,SP56089,SP56094,SP56096,SP56104,SP56106,SP56114,SP56116,SP56120,SP56126,SP56132,SP56138,SP56143,SP56144,SP56152,SP56172,SP56173,SP56185,SP56196,SP56197,SP56200,SP56207,SP56223,SP56224,SP56238,SP56246,SP56248,SP56267,SP56271,SP56289,SP56294,SP56313,SP56319,SP56324,SP56330,SP56331,SP56350,SP56373,SP56380,SP56385,SP56396,SP56457,SP56467,SP56518,SP56549,SP56707,SP56710,SP56734,SP56789,SP56795,SP56816,SP56832,SP56833,SP56846,SP56849,SP56856,SP56861,SP56874,SP56878,SP56880,SP56886,SP56887,SP56890,SP56913,SP56926,SP56927,SP56947,SP56950,SP56960,SP56965,SP56971,SP56987,SP57010,SP57013,SP57021,SP57027,SP57045,SP57067,SP57078,SP57163,SP57173,SP57190,SP57193,SP57197,SP57199,SP57208,SP57238,SP57243,SP57250,SP57254,SP57268,SP57269,SP57270,SP57273,SP57274,SP57278,SP57292,SP57306,SP57314,SP57322,SP57324,SP57328,SP57329,SP57341,SP57347,SP57348,SP57367,SP57376,SP57379,SP57404,SP57408,SP57410,SP57418,SP57430,SP57455,SP57463,SP57469,SP57472,SP57478,SP57485,SP57501,SP57507,SP57545,SP57553,SP57577,SP57669,SP57671,SP57672,SP57690,SP57741,SP57754,SP57779,SP57856,SP57860,SP57873,SP57874,SP57905,SP57925,SP57941,SP57973,SP57983,SP58007,SP58114,SP58155,SP58206,SP58215,SP58305,SP58373,SP58462,SP58465,SP58557,SP58561,SP58581,SP80924,SP80925,SP80928,SP80930,SP80932,SP80936,SP80948,SP80953,SP80955,SP80986,SP80988,SP80992,SP81003,SP81005,SP81009,SP81014,SP81036,SP81059,SP81067,SP81073,SP81074,SP81085,SP81091,SP81097 nsv433465 4 69124109 69163188 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463346 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv436943 4 69125689 69141754 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466824 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv879355 4 69129446 69163188 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572600,nssv1594867,nssv1597871,nssv1594047,nssv1596207,nssv1578192 M 6533 6 0 "" IS33150,IS34709,IS39672,IS40047,IS40444,IS41025 esv989674 4 69135474 69145559 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586694 S 3 0 1 "" HuRef nsv822593 4 69138837 69142207 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436550 S 31 0 1 "" NA18542 nsv822594 4 69139492 69164038 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425742 S 31 0 1 "" NA18592 esv1008089 4 69152688 69173300 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586404 S 3 0 1 "" HuRef nsv879364 4 69163188 69258302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581370,nssv1595061 M 6533 0 2 UGT2B15 IS35572,IS40086 dgv5605n71 4 69163188 69405358 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv879365,nsv879368 M 6533 8 32 UGT2B15 IS30141,IS30147,IS30180,IS30228,IS30409,IS33890,IS35533,IS35993,IS36219,IS38270,IS39509,IS40834,IS41043,IS41780,IS41803,IS41832,IS41921,IS41964,MS10184,MS11002,MS11467,MS11616,MS12266,MS12423,MS12544,MS12963,MS13716,MS15803,MS16847,MS19503,MS20616,MS21100,MS21182,MS21290,MS21863,MS21868,MS22322,MS23257,SP53988,SP55513 dgv5606n71 4 69163188 69429403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879369,nsv879367,nsv879370,nsv879366 M 6533 0 7 UGT2B15 IS34779,IS36689,IS41933,MS15117,MS16347,SP50120,SP55694 nsv821163 4 69513050 69585133 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420423 S 1 0 1 TMPRSS11E,UGT2B15 NA10851 nsv879371 4 69519015 69604599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546303 S 6533 0 1 UGT2B15 MS17130 esv23302 4 69521054 69577339 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11468,esv16815,esv16951 M 451 36 0 UGT2B15 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv10518 4 69524112 69588048 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv29077,nssv12364,nssv13131,nssv13543,nssv11501,nssv12498,nssv13364,nssv12513,nssv12601,nssv11977,nssv12268,nssv13287,nssv11615,nssv13334,nssv12170,nssv11826,nssv13161,nssv12528,nssv12519,nssv11912,nssv12749,nssv14280,nssv13268,nssv12334,nssv12489,nssv11882 M 31 20 0 Samples from several populations that are part of the HapMap project. UGT2B15 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18564,NA18853,NA18860,NA19132,NA19144,NA19173,NA19221,NA19240 nsv471430 4 69546933 69570979 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548258,nssv548260,nssv548259 M 3 UGT2B15 nsv879372 4 69562016 69585407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600059 S 6533 0 1 UGT2B15 IS41837 nsv879373 4 69562016 69604599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577866 S 6533 0 1 UGT2B15 IS34599 nsv879374 4 69562016 69624948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593803 S 6533 0 1 UGT2B15 IS39522 nsv879375 4 69581993 69624948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583943 S 6533 0 1 "" IS36728 nsv879376 4 69581993 69631764 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556042,nssv1541929 M 6533 1 1 "" MS15545,MS21771 nsv829961 4 69590242 69730056 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443693 S 95 0 1 UGT2B10 nsv509006 4 69597251 69608858 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619375 S 4 1 0 "" NA10860 essv17788 4 69599659 70302678 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. UGT2A3,UGT2B10,UGT2B11,UGT2B28,UGT2B7 NA10831 esv2089833 4 69632344 69633076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685510 S 1 0 1 "" NA18507 esv9553 4 69632525 69632882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31994 S 1 0 1 "" SJK esv29472 4 69643111 69648631 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13953 S 451 0 1 "" NA12239 essv6528 4 69685449 69694327 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18611 dgv5607n71 4 69697592 69806524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879378,nsv879377 M 6533 0 2 UGT2B10 IS30742,MS12963 esv2421961 4 69705891 69743661 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5148364,essv5024805,essv5136761,essv5159912,essv5149048,essv5103176,essv5019511,essv5016453,essv5002362,essv5015221,essv5084517,essv5099735,essv5073495,essv5080696,essv5117339,essv5096016,essv5080769,essv5016234,essv5120047,essv5037114,essv5122745,essv5016441,essv5110497,essv5092337,essv5137963,essv5097024,essv5013043,essv5124678,essv5047566,essv5134384,essv5149908,essv5119586 M 1184 32 0 UGT2B10 NA18855,NA18857,NA18861,NA18910,NA19044,NA19128,NA19350,NA19360,NA19436,NA19446,NA19473,NA20279,NA20282,NA20295,NA20317,NA20322,NA20344,NA20345,NA20349,NA20350,NA21364,NA21399,NA21408,NA21424,NA21513,NA21514,NA21596,NA21597,NA21600,NA21723,NA21739,NA21740 esv21679 4 69712776 69752461 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15609 S 451 1 0 UGT2B10 NA18861 nsv441886 4 69713484 69751804 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 UGT2B10 nsv461547 4 69718710 69740862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537926 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UGT2B10 HGDP00648 dgv1633e1 4 69719637 69782148 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9547,essv17218 M 271 0 0 UGT2B10 NA18857,NA18861 essv17383 4 69720071 69744060 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. UGT2B10 NA18855 nsv523860 4 69738116 69740862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699696 S 2026 0 1 "" nsv521812 4 69738116 69750534 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694583 S 2026 1 0 "" nsv436447 4 69777928 69885979 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466109 S 2 0 1 Samples from several populations that are part of the HapMap project. UGT2A3 NA18505 nsv518690 4 69787057 69807283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696141 S 2026 0 1 "" nsv4372 4 69799088 69844704 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7093 S 9 0 1 UGT2A3 NA12156 dgv1634e1 4 69810000 70448761 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11284,essv312,essv6116,essv18384,essv7099,essv22206,essv20007,essv24771,essv22097,essv22549,essv16626,essv24258,essv6590,essv24819,essv6912,essv24656,essv23066,essv17315,essv5367,essv15328,essv9682,essv15412,essv1211,essv21145,essv23425 M 271 0 0 UGT2A3,UGT2B11,UGT2B28,UGT2B4,UGT2B7 NA07000,NA07048,NA07348,NA10854,NA10856,NA10860,NA11829,NA12044,NA12154,NA12249,NA12812,NA12815,NA18532,NA18537,NA18563,NA18605,NA18621,NA18856,NA18862,NA18913,NA18951,NA18978,NA19142,NA19203,NA19204 nsv829962 4 69821458 69944872 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443694 S 95 1 0 UGT2A3 esv3829 4 69825426 69825851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26270 S 1 0 1 Single Asian sample YH "" YH esv1002295 4 69825449 69825768 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584119 S 3 0 1 "" HuRef esv6299 4 69825463 69825766 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28740 S 1 0 1 "" SJK esv1486252 4 69825463 69825783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044795 S 2 0 1 "" HuRef nsv10519 4 69851089 69870528 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12200 S 31 1 0 Samples from several populations that are part of the HapMap project. UGT2A3 NA18853 nsv10520 4 69886819 69890590 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12145 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 esv1750138 4 69896468 69896468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159287 S 2 1 0 "" HuRef essv22808 4 69897763 69936196 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12753 nsv879379 4 69913518 70021838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581489 S 6533 0 1 UGT2B7 IS35594 nsv10521 4 69915021 69917812 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13317 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv10522 4 69942839 69944657 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12175 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv4373 4 69946872 69980496 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7968 S 9 1 0 "" NA12156 dgv1635e1 4 69964290 70302678 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23979,essv8867,essv701,essv22638,essv18200,essv1484,essv14277,essv11971,essv2596,essv15553,essv61,essv3891,essv1233,essv4185,essv1748,essv22423,essv22109,essv24434,essv1378,essv19638,essv7571,essv22779,essv14373,essv2817,essv18602,essv16433,essv2329,essv23183,essv4123,essv15062,essv23479,essv17028,essv17634,essv6744,essv23902,essv10046,essv12335,essv6315,essv2496,essv23689,essv5162,essv5928,essv4703,essv7347,essv20804,essv4266,essv4591,essv18445,essv4404,essv14973,essv19001,essv4742,essv21278,essv19790,essv20198,essv11502,essv4908,essv17448,essv4045,essv23797,essv7220,essv19227,essv6281,essv4666,essv21867,essv4966,essv20951,essv13079,essv24519,essv9354,essv17646,essv7863,essv23247,essv23354,essv20219,essv1040,essv11458,essv19954,essv20411,essv16163,essv7430,essv21185,essv8962,essv18114,essv19084,essv9787,essv24575,essv24978,essv18347,essv16779,essv15633,essv6392,essv17704,essv17099,essv8098,essv21531,essv21392,essv339,essv17542,essv18699,essv6010,essv1638,essv3800,essv8613,essv20607,essv12400,essv22463,essv22836,essv3359,essv5200,essv14736,essv10521,essv23524,essv3480,essv24939,essv6965,essv22978,essv5130,essv3754,essv23585,essv9628,essv2232,essv5025,essv2669,essv5455,essv3092,essv4006 M 271 0 0 UGT2B11,UGT2B28,UGT2B7 NA06993,NA06994,NA07019,NA07029,NA07034,NA07055,NA07056,NA07357,NA10830,NA10835,NA10838,NA10839,NA10855,NA10857,NA10861,NA10863,NA11830,NA11831,NA11832,NA11839,NA11881,NA11992,NA11993,NA11994,NA12004,NA12005,NA12006,NA12043,NA12057,NA12144,NA12146,NA12155,NA12156,NA12234,NA12707,NA12716,NA12740,NA12750,NA12752,NA12753,NA12761,NA12762,NA12763,NA12801,NA12802,NA12813,NA12814,NA12872,NA12873,NA12874,NA18507,NA18508,NA18517,NA18524,NA18526,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18594,NA18603,NA18609,NA18611,NA18620,NA18622,NA18623,NA18632,NA18635,NA18636,NA18637,NA18852,NA18853,NA18857,NA18863,NA18870,NA18872,NA18912,NA18940,NA18942,NA18943,NA18945,NA18961,NA18966,NA18967,NA18969,NA18970,NA18971,NA18975,NA18980,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA19003,NA19005,NA19007,NA19099,NA19100,NA19129,NA19137,NA19138,NA19139,NA19141,NA19144,NA19159,NA19172,NA19173,NA19194,NA19200,NA19206,NA19238,NA19239,NA19240 dgv1636e1 4 69964290 70448761 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19557,essv2476 M 271 0 0 UGT2B11,UGT2B28,UGT2B4,UGT2B7 NA12864,NA18999 nsv522091 4 69967176 70022967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694863 S 2026 0 1 UGT2B7 nsv10523 4 69968081 69969619 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14003 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 esv2502619 4 69993991 69995449 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275566 S 1 0 1 "" NA18507 esv2027103 4 69994263 69994955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525028 S 1 0 1 "" NA18507 esv3451 4 69994387 69994899 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25892 S 1 0 1 Single Asian sample YH "" YH esv5943 4 69994433 69994770 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28384 S 1 0 1 "" SJK esv2583599 4 69994437 69994760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292528 S 1 0 1 "" NA18507 dgv5608n71 4 69996501 70101308 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879381,nsv879382,nsv879380 M 6533 0 3 UGT2B11,UGT2B7 IS36219,IS37226,MS13480 nsv822595 4 70005331 70006191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438097 S 31 0 1 UGT2B7 NA18951 nsv879383 4 70030098 70081519 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515120,nssv1528639,nssv1504817,nssv1540503,nssv1536606,nssv1522570 M 6533 6 0 "" MS12860,MS14872,SP52761,SP53256,SP56125,SP81333 nsv879384 4 70030098 70101308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550802 S 6533 0 1 UGT2B11 MS18620 nsv519544 4 70038552 70102440 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678103,nssv656809,nssv658264,nssv685967,nssv704170,nssv690741 M 2026 5 1 UGT2B11 dgv5609n71 4 70052120 70150677 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879385,nsv879388 M 6533 2 0 UGT2B11 MS16959,MS18274 dgv5610n71 4 70052120 70231600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879392,nsv879386 M 6533 0 2 UGT2B11,UGT2B28 IS40254,MS12510 dgv5611n71 4 70052120 70281752 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879394,nsv879398,nsv879399,nsv879387,nsv879393 M 6533 5 0 UGT2B11,UGT2B28 IS30530,IS33248,IS35471,IS35506,IS41410 esv28328 4 70052484 70328860 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18774,esv12929,esv13389,esv19678 M 451 17 6 UGT2B11,UGT2B28 NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12414,NA12776,NA15510,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19129,NA19147,NA19225,NA19240,NA19257 dgv1637e1 4 70054522 70333310 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18689,essv13207,essv14829,essv17361,essv14926,essv24445,essv25079,essv2750 M 271 0 0 UGT2B11,UGT2B28 NA12056,NA12865,NA12892,NA18517,NA18965,NA19119,NA19120,NA19129 nsv10524 4 70056058 70328848 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11957,nssv13454,nssv12007,nssv11932,nssv12354,nssv13347,nssv13298,nssv29236,nssv12298,nssv13603,nssv13394,nssv12549,nssv13328,nssv12543,nssv12558,nssv29206,nssv11942,nssv12205,nssv12230,nssv12235,nssv12394,nssv11645,nssv12206,nssv13633,nssv11925,nssv29107,nssv11531,nssv12631,nssv13377,nssv13573,nssv12809,nssv11856 M 31 23 2 Samples from several populations that are part of the HapMap project. UGT2B11,UGT2B28 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18942,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 dgv17n31 4 70063830 70216313 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471335,nsv471334 M 3 UGT2B11,UGT2B28 essv5980 4 70067114 70244994 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. UGT2B11,UGT2B28 NA18552 nsv879389 4 70072336 70164518 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599589,nssv1548495 M 6533 1 1 UGT2B11 IS41703,MS17872 nsv879390 4 70072336 70205869 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567651,nssv1586846 M 6533 1 1 UGT2B11,UGT2B28 IS31137,IS37985 dgv5612n71 4 70072336 70216715 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879391,nsv879397,nsv879396 M 6533 4 0 UGT2B11,UGT2B28 IS32306,IS36064,IS38380,IS39784 nsv879395 4 70072336 70354755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564707 S 6533 0 1 UGT2B11,UGT2B28 IS30288 nsv482088 4 70100636 70115038 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558449 S 1 1 0 UGT2B11 KB1 nsv879400 4 70105197 70332481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576808 S 6533 1 0 UGT2B11,UGT2B28 IS34235 dgv5613n71 4 70116490 70269008 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879403,nsv879402,nsv879406,nsv879405,nsv879404,nsv879401 M 6533 11 0 UGT2B28 IS30228,IS30406,IS31147,IS33162,IS34019,IS35533,IS37157,IS38151,IS38618,IS39714,IS40475 nsv509007 4 70118681 70129351 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620790 S 4 1 0 "" NA15510 nsv436676 4 70120402 70281429 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466110 S 2 0 0 Samples from several populations that are part of the HapMap project. UGT2B28 NA18505 esv2635003 4 70120638 70176118 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306765 S 1 0 0 "" NA18507 dgv1638e1 4 70123190 70333310 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18800,essv8392,essv13281,essv629,essv22735,essv13960,essv593,essv3334,essv18564,essv1692 M 271 0 0 UGT2B28 NA10851,NA12239,NA12248,NA18947,NA18948,NA18968,NA18998,NA19093,NA19160,NA19201 nsv820690 4 70131239 70294512 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420424 S 1 0 1 UGT2B28 NA10851 nsv822596 4 70131239 70294512 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437387,nssv1425867,nssv1422549,nssv1428217,nssv1425385,nssv1436551 M 31 0 6 UGT2B28 AK10,NA18542,NA18552,NA18592,NA18949,NA18968 esv269620 4 70131484 70131569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514156,essv2516362 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12814 nsv437922 4 70131519 70262009 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468472,nssv468490,nssv468480,nssv468479,nssv468476,nssv468466,nssv468471,nssv468484,nssv468468,nssv468473,nssv468486,nssv468475,nssv468477,nssv468478,nssv468467,nssv468481,nssv468482,nssv468469,nssv468492,nssv468470,nssv468483,nssv468489,nssv468487,nssv468491,nssv468488 M 269 0 24 Samples from several populations that are part of the HapMap project. UGT2B28 NA12865,NA12875,NA18503,NA18504,NA18508,NA18516,NA18912,NA18947,NA18965,NA19093,NA19094,NA19101,NA19103,NA19119,NA19129,NA19143,NA19145,NA19153,NA19160,NA19201,NA19207,NA19208,NA19221,NA19222 dgv1639e1 4 70149044 70244994 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8662,essv992,essv518,essv5615 M 271 0 0 UGT2B28 NA18593,NA18952,NA18964,NA19101 dgv1640e1 4 70149044 70280901 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2550,essv19721,essv20535,essv12915,essv14680,essv3907,essv14933,essv19348,essv2941,essv8261,essv6553,essv16609,essv24362,essv8687,essv13243,essv2710,essv7058,essv18789,essv945,essv2115 M 271 0 0 UGT2B28 NA06985,NA10839,NA11995,NA12236,NA12891,NA18612,NA18624,NA18912,NA18944,NA18949,NA18959,NA18960,NA18972,NA18974,NA19094,NA19131,NA19132,NA19145,NA19153,NA19208 dgv5614n71 4 70150677 70269008 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879417,nsv879420,nsv879408,nsv879407,nsv879410,nsv879411 M 6533 0 15 UGT2B28 SP50061,SP51049,SP51060,SP51167,SP51427,SP52077,SP54477,SP54625,SP54704,SP55835,SP55856,SP55864,SP56064,SP57250,SP80928 nsv469562 4 70151262 70310376 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649674 M 265 0 65 Samples from several populations that are part of the HapMap project. UGT2B28 nsv471625 4 70151263 70310376 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549308,nssv549291,nssv549307,nssv549305,nssv549290,nssv549288,nssv549286,nssv549287,nssv549296,nssv549289,nssv549298,nssv549306,nssv549292,nssv549302,nssv549294,nssv549309,nssv549301,nssv549304,nssv549293,nssv549297,nssv549295,nssv549300,nssv549299,nssv549303,nssv549285 M 48 0 25 UGT2B28 JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA16689,NA17015,NA17051,NA17052,NA17058,P86GA nsv4374 4 70152117 70286091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4749 S 9 0 1 UGT2B28 NA19129 nsv436948 4 70155288 70183419 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466829 S 60 0 1 Samples from several populations that are part of the HapMap project. UGT2B28 NA12865 dgv5615n71 4 70155288 70246877 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879416,nsv879409,nsv879414,nsv879415 M 6533 0 16 UGT2B28 SP50084,SP50107,SP51413,SP51483,SP52137,SP54355,SP54509,SP54581,SP54722,SP54792,SP55586,SP55684,SP55749,SP56207,SP57297,SP57463 dgv5616n71 4 70155288 70332481 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879419,nsv879413,nsv879412 M 6533 3 0 UGT2B28 IS32918,IS39258,IS39453 nsv499045 4 70158290 70267015 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585906 S 9 0 1 UGT2B28 esv33234 4 70159719 70207936 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100675,essv98415 M 51 2 0 UGT2B28 21656,22352 nsv510922 4 70160460 70293285 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618635 S 4 0 0 UGT2B28 CHM nsv514224 4 70162208 70269616 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627664 S 1414 0 1 UGT2B28 esv2421696 4 70162233 70269008 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5069007,essv5056509,essv5091080,essv5043954,essv5059123,essv5112513,essv5007761,essv5091617,essv5078685,essv5048165,essv5044555,essv5091814,essv5073064,essv5081608,essv5027926,essv5038778,essv5008625,essv5115816,essv5011313,essv5015656,essv5102545,essv5085207,essv5020839,essv5123532,essv5035779,essv5093435,essv5101598,essv5106385,essv5030260,essv5105968,essv5057701,essv5070122,essv5154150,essv5090586,essv5083736,essv5106506,essv5140341,essv5153189,essv5050548,essv5027873,essv5017743,essv5079861,essv5010885,essv5146896,essv5025707,essv5083691,essv5157267,essv5074695,essv5128847,essv5069187,essv5058984,essv5033529,essv5066462,essv5029402,essv5010289,essv5040489,essv5101966,essv5088188,essv5061505,essv5148383,essv5160924,essv5153058,essv5048776,essv5030854,essv5087428,essv5107320,essv5050673,essv5016923,essv5034161,essv5085461,essv5064321,essv5055261,essv5058413,essv5102636,essv5094527,essv5072988,essv5018524,essv5007512,essv5083865,essv5064374,essv5011475,essv5095923,essv5039207,essv5073093,essv5085265,essv5015637,essv5149726,essv5019081,essv5099527,essv5045714,essv5138612,essv5123651,essv5057437,essv5008243,essv5037469,essv5051516,essv5128025,essv5012240,essv5138733,essv5011838,essv5034170,essv5154251,essv5150635,essv5159710,essv5159529,essv5118023,essv5115369,essv5100052,essv5098732,essv5060781,essv5027696,essv5061899,essv5019263,essv5061764,essv5010446,essv5027684,essv5016578,essv5035220,essv5062672,essv5098081,essv5086921,essv5063482,essv5020356,essv5025628,essv5142974,essv5030896,essv5093611,essv5145116,essv5158767,essv5107746,essv5130903,essv5046397,essv5010290,essv5160507,essv5014408,essv5013883,essv5015078,essv5024197,essv5089473,essv5024709,essv5135778,essv5116441,essv5075879,essv5085693,essv5028241,essv5154001,essv5061417,essv5155332,essv5012893,essv5068902,essv5058861,essv5007551,essv5016033,essv5117846,essv5131458,essv5141391,essv5145273,essv5059875,essv5049754,essv5147250,essv5147458,essv5094452,essv5018871,essv5127402,essv5157975,essv5094466,essv5097913,essv5003924,essv5096153,essv5103934,essv5081393,essv5125152,essv5023851,essv5020083,essv5148090,essv5003022,essv5144890,essv5067264,essv5040021,essv5072504,essv5080197,essv5039588,essv5058628,essv5063968,essv5040194,essv5137366,essv5137122,essv5115926,essv5014197,essv5051366,essv5011447,essv5128005,essv5077730,essv5056026,essv5025717,essv5048629,essv5011991,essv5136016,essv5071017,essv5102075,essv5023494,essv5122050,essv5009964,essv5075553,essv5082937,essv5072622,essv5147640,essv5156678,essv5151432,essv5059572,essv5159008,essv5050239,essv5124034,essv5156101,essv5148993,essv5094955,essv5142787,essv5155993,essv5103213,essv5054362,essv5012271,essv5042298,essv5111562,essv5037983,essv5070445,essv5134170,essv5056536,essv5136932,essv5112580,essv5061884,essv5157614,essv5011990,essv5017884,essv5120376,essv5093038,essv5097583,essv5106909,essv5036644,essv5077731,essv5081286,essv5033028,essv5110702,essv5068411,essv5017207,essv5125231,essv5018126,essv5049458,essv5143148,essv5063066,essv5087081,essv5154317,essv5014086,essv5111974,essv5050017,essv5056898,essv5042008,essv5005666,essv5039055,essv5154156,essv5047294,essv5065787,essv5045125,essv5131260,essv5159170,essv5053089,essv5108661,essv5106691,essv5082927,essv5077779,essv5044539,essv5114986,essv5072148,essv5016087,essv5046093,essv5101240,essv5003257,essv5030950,essv5147607,essv5149484,essv5034291,essv5021618,essv5072397,essv5094717,essv5089327,essv5042626,essv5054143,essv5007945,essv5129433,essv5020960,essv5003692,essv5054813,essv5123727,essv5097816,essv5099959,essv5127802,essv5090632,essv5121311,essv5122870,essv5017203,essv5100645,essv5044621,essv5088395,essv5044815,essv5151479,essv5067830,essv5137928,essv5147270,essv5129785,essv5089582,essv5082560,essv5111078,essv5101813,essv5015604,essv5051436,essv5048490,essv5085224,essv5143413,essv5016909,essv5161148,essv5131060,essv5069526,essv5078468,essv5115923,essv5012835,essv5142714,essv5151851,essv5088838,essv5033366,essv5079226,essv5040541,essv5060167,essv5028051,essv5002075,essv5021946,essv5076892,essv5088186,essv5068979,essv5101563,essv5079131,essv5076073,essv5002774,essv5023385,essv5120650,essv5052275,essv5132175,essv5096522,essv5056816,essv5069228,essv5013102,essv5012033,essv5157945,essv5032388,essv5033299,essv5143907,essv5077556,essv5058135,essv5087728,essv5133946,essv5043558,essv5062028,essv5007579,essv5049179,essv5087109,essv5059947,essv5139880,essv5153778,essv5146379,essv5109029,essv5066989,essv5158509,essv5115197,essv5155390,essv5019408,essv5013591,essv5147130,essv5077961,essv5143288,essv5140036,essv5005938,essv5118641,essv5160008,essv5091554,essv5041311,essv5042385,essv5009961,essv5028512,essv5152748,essv5013664,essv5021828,essv5152296,essv5055929,essv5045416,essv5118975,essv5108851,essv5025225,essv5095993,essv5087808,essv5014842,essv5113475,essv5133173,essv5038856,essv5092783,essv5154060,essv5094624,essv5006069,essv5097022,essv5049519,essv5152490,essv5131539,essv5074351,essv5029985,essv5103371,essv5068929,essv5069909,essv5118753,essv5082650,essv5135785,essv5126608,essv5075025,essv5084833,essv5119068,essv5151294,essv5127685,essv5015360,essv5028595,essv5079502,essv5072305,essv5143241,essv5007908,essv5096500,essv5062472,essv5015533,essv5070771,essv5152639,essv5099449,essv5138030,essv5015219,essv5055427,essv5131422,essv5025920,essv5113473,essv5063327,essv5078815,essv5064041,essv5066121,essv5130981,essv5005825,essv5022880,essv5029794,essv5144568,essv5041634,essv5084298,essv5092021,essv5063448,essv5126712,essv5109155 M 1184 0 456 UGT2B28 NA06984,NA06985,NA06986,NA06991,NA06997,NA10840,NA10845,NA10846,NA10852,NA10853,NA10859,NA11843,NA11882,NA11917,NA11919,NA11931,NA11995,NA12003,NA12056,NA12145,NA12239,NA12248,NA12264,NA12283,NA12287,NA12336,NA12342,NA12399,NA12413,NA12489,NA12708,NA12749,NA12760,NA12828,NA12865,NA12875,NA12878,NA12891,NA12892,NA17966,NA17967,NA17974,NA17979,NA17987,NA18105,NA18108,NA18127,NA18141,NA18147,NA18148,NA18150,NA18157,NA18160,NA18485,NA18486,NA18487,NA18489,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18508,NA18510,NA18515,NA18516,NA18518,NA18520,NA18529,NA18542,NA18543,NA18552,NA18592,NA18593,NA18599,NA18608,NA18612,NA18614,NA18624,NA18627,NA18634,NA18643,NA18685,NA18689,NA18704,NA18740,NA18855,NA18858,NA18859,NA18860,NA18871,NA18874,NA18909,NA18911,NA18912,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18944,NA18946,NA18947,NA18948,NA18949,NA18952,NA18953,NA18959,NA18960,NA18963,NA18964,NA18965,NA18968,NA18972,NA18974,NA18976,NA18977,NA18981,NA18998,NA19000,NA19001,NA19031,NA19035,NA19038,NA19041,NA19046,NA19054,NA19057,NA19060,NA19064,NA19065,NA19070,NA19074,NA19084,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19140,NA19143,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19160,NA19161,NA19174,NA19176,NA19178,NA19180,NA19182,NA19183,NA19185,NA19186,NA19190,NA19191,NA19192,NA19193,NA19197,NA19198,NA19201,NA19202,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19235,NA19237,NA19248,NA19256,NA19257,NA19258,NA19309,NA19310,NA19313,NA19314,NA19315,NA19316,NA19318,NA19319,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19347,NA19352,NA19372,NA19374,NA19375,NA19376,NA19379,NA19380,NA19381,NA19382,NA19393,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19429,NA19430,NA19431,NA19435,NA19436,NA19443,NA19445,NA19449,NA19451,NA19452,NA19456,NA19467,NA19473,NA19625,NA19651,NA19652,NA19653,NA19654,NA19656,NA19661,NA19670,NA19671,NA19678,NA19681,NA19683,NA19684,NA19700,NA19701,NA19702,NA19703,NA19705,NA19708,NA19711,NA19712,NA19713,NA19716,NA19720,NA19723,NA19725,NA19727,NA19747,NA19749,NA19750,NA19751,NA19755,NA19757,NA19760,NA19771,NA19773,NA19775,NA19776,NA19782,NA19784,NA19818,NA19828,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19915,NA19917,NA19919,NA19921,NA19983,NA20129,NA20276,NA20287,NA20288,NA20289,NA20290,NA20291,NA20301,NA20302,NA20317,NA20319,NA20322,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20356,NA20357,NA20359,NA20360,NA20364,NA20502,NA20505,NA20515,NA20516,NA20524,NA20529,NA20530,NA20534,NA20541,NA20544,NA20589,NA20753,NA20755,NA20756,NA20765,NA20771,NA20785,NA20786,NA20787,NA20799,NA20816,NA20852,NA20853,NA20856,NA20858,NA20861,NA20862,NA20870,NA20871,NA20873,NA20877,NA20881,NA20885,NA20887,NA20891,NA20892,NA20897,NA20899,NA20900,NA20902,NA20907,NA20910,NA21089,NA21091,NA21094,NA21097,NA21098,NA21100,NA21102,NA21104,NA21107,NA21112,NA21115,NA21116,NA21118,NA21123,NA21125,NA21141,NA21301,NA21303,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21352,NA21357,NA21362,NA21370,NA21388,NA21389,NA21399,NA21401,NA21403,NA21404,NA21405,NA21421,NA21441,NA21453,NA21457,NA21473,NA21479,NA21486,NA21487,NA21488,NA21494,NA21510,NA21513,NA21514,NA21521,NA21522,NA21524,NA21528,NA21573,NA21574,NA21575,NA21577,NA21580,NA21587,NA21599,NA21600,NA21601,NA21608,NA21614,NA21619,NA21620,NA21631,NA21632,NA21648,NA21683,NA21685,NA21686,NA21693,NA21719,NA21723,NA21733,NA21739,NA21741,NA21784 nsv442911 4 70162233 70273689 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 UGT2B28 dgv92n16 4 70162456 70266797 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436430,nsv436434 M 2 0 1 UGT2B28 NA18505 dgv5617n71 4 70164518 70269008 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv879423,nsv879418 M 6533 2 18 UGT2B28 SP50103,SP50521,SP50637,SP51062,SP52019,SP52082,SP52093,SP52095,SP52109,SP53036,SP53041,SP54384,SP54389,SP54409,SP55822,SP56114,SP56138,SP57322,SP57443,SP57507 essv948 4 70168929 70217874 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. UGT2B28 NA18981 dgv5618n71 4 70177381 70269008 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879422,nsv879421 M 6533 2 0 UGT2B28 SP57013,SP81024 nsv436949 4 70183419 70206527 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466830 S 60 0 1 Samples from several populations that are part of the HapMap project. UGT2B28 NA12865 dgv878n67 4 70183990 70264889 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822597,nsv822600 M 31 0 3 UGT2B28 AK20,NA18947,NA18972 nsv822599 4 70187021 70264889 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438098 S 31 1 0 UGT2B28 NA18951 esv29954 4 70188454 70299604 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84193 S 3 0 1 UGT2B28 WATSON esv33154 4 70188483 70300439 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98299 S 51 0 1 UGT2B28 21772 dgv5619n71 4 70192766 70309146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879427,nsv879425,nsv879424 M 6533 0 3 UGT2B28 MS14872,SP50850,SP81333 nsv507174 4 70197277 70203277 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621751,nssv620249 M 4 2 0 "" NA10860,NA15510 nsv433466 4 70205869 70246877 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463347 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv526160 4 70205869 70296335 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702419 S 2026 1 0 "" nsv526929 4 70205869 70310066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703296 S 2026 0 1 "" dgv92n17 4 70206527 70267558 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436951,nsv436950 M 60 0 2 "" NA12865,NA12878 esv9599 4 70214984 70239200 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32040 S 1 0 0 "" SJK nsv879426 4 70216715 70296335 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592606 S 6533 1 0 "" IS39243 dgv5620n71 4 70236428 70332481 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879432,nsv879433,nsv879428,nsv879438,nsv879429 M 6533 0 7 "" IS30054,IS32006,IS36854,MS12466,MS12640,MS17359,SP53732 dgv5621n71 4 70236428 70362629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879431,nsv879434,nsv879435,nsv879430 M 6533 0 4 "" IS30742,IS31137,IS33864,MS13093 nsv4375 4 70255918 70259001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10408 S 9 1 0 "" NA18956 dgv5622n71 4 70257471 70309146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879437,nsv879436 M 6533 0 3 "" SP52761,SP53256,SP56125 nsv507175 4 70283083 70289083 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620250,nssv621752 M 4 2 0 "" NA10860,NA15510 esv2421392 4 70292920 70310066 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079413,essv5103011,essv5024712,essv5031083,essv5054458,essv5045068,essv5118618,essv5044270,essv5077262,essv5112770,essv5112780,essv5095136,essv5062600,essv5149487,essv5036581,essv5137910,essv5090444,essv5124476,essv5074477,essv5052597,essv5108903,essv5066825,essv5014210,essv5002295,essv5134369 M 1184 0 25 "" NA18484,NA18485,NA18487,NA18488,NA18499,NA18852,NA18858,NA18861,NA18863,NA18867,NA19046,NA19096,NA19097,NA19131,NA19132,NA19139,NA19239,NA19248,NA19249,NA19394,NA19661,NA19704,NA19705,NA20356,NA20358 nsv436755 4 70293658 70293728 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466113 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv516069 4 70296335 70332481 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685383,nssv681088,nssv673797,nssv684576,nssv655737,nssv658214,nssv682609,nssv666005,nssv675736,nssv682356,nssv679092,nssv661695,nssv668683,nssv705322 M 2026 1 13 "" nsv461548 4 70296335 70418580 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537927 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UGT2B4 HGDP00058 dgv5623n71 4 70310066 70428712 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879440,nsv879441,nsv879439 M 6533 13 0 UGT2B4 IS31330,IS31587,IS33200,IS34185,IS34409,IS36854,IS37554,IS40057,IS40955,MS11550,MS14818,MS16419,MS17806 nsv470045 4 70332481 70418580 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546326 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UGT2B4 HGDP00058 dgv5624n71 4 70334275 70363547 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879442,nsv879443 M 6533 0 2 "" IS34312,IS36219 nsv510892 4 70413534 70513054 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618605 S 4 0 0 UGT2A1,UGT2A2 CHM nsv879444 4 70418580 70489580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598650 S 6533 0 1 UGT2A1,UGT2A2 IS40989 esv267875 4 70448234 70448563 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575900,essv2571815,essv2546441,essv2542562,essv2536563,essv2522847,essv2570491,essv2521893,essv2576761,essv2550674,essv2525287,essv2535077,essv2552277,essv2520622,essv2529231,essv2558637,essv2564447,essv2577741,essv2553784,essv2559471,essv2576382,essv2564167,essv2555170,essv2530530,essv2561834,essv2546697,essv2540178,essv2552341,essv2551711,essv2532153,essv2538997,essv2569736,essv2527211,essv2540346,essv2564856,essv2534815,essv2561237,essv2519812,essv2528780,essv2570008,essv2572503,essv2568932,essv2543411,essv2556230,essv2578342,essv2566583,essv2522603,essv2577163,essv2529701,essv2575763,essv2574991,essv2526539,essv2560629,essv2530241,essv2572850,essv2545245,essv2560281,essv2549862,essv2571147,essv2574339,essv2551312,essv2533009,essv2554363,essv2547666,essv2563364 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA10847,NA11830,NA11840,NA11881,NA11919,NA11920,NA11931,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12828,NA12872,NA12873,NA12874,NA12892,NA18489,NA18502,NA18504,NA18505,NA18519,NA18520,NA18522,NA18552,NA18558,NA18561,NA18562,NA18566,NA18579,NA18593,NA18609,NA18861,NA18870,NA18871,NA18940,NA18948,NA18960,NA18970,NA19093,NA19099,NA19102,NA19114,NA19116,NA19141,NA19143,NA19172,NA19190,NA19225,NA19238,NA19240,NA19257 esv272784 4 70448236 70448558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583057,essv2584171,essv2583716 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 nsv293149 4 70448263 70448263 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311727 M 24 "" esv27103 4 70450250 70451205 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14007 S 451 0 2 "" NA12239,NA19190 nsv507176 4 70452536 70458536 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620251 S 4 1 0 "" NA15510 nsv4377 4 70479057 70538684 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4750,nssv9395,nssv7094 M 9 0 3 UGT2A1,UGT2A2 NA12156,NA18517,NA19129 esv33983 4 70500160 70508927 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100631,essv98278,essv94396,essv96952,essv95731,essv99033,essv93661,essv97191,essv93304,essv98385 M 51 9 1 UGT2A1,UGT2A2 21656,21772,21808,21817,21841,21938,21972,22075,22170,22352 esv1001272 4 70500826 70507728 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563736 S 3 0 1 UGT2A1,UGT2A2 HuRef esv24189 4 70501386 70508909 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12946,esv14623,esv19574 M 451 0 7 UGT2A1,UGT2A2 NA12239,NA18517,NA18523,NA18858,NA18916,NA19099,NA19114 dgv93n16 4 70501517 70508203 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435803,nsv436420 M 2 0 2 UGT2A1,UGT2A2 NA15510,NA18505 nsv499046 4 70502059 70507392 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585907 S 9 0 1 UGT2A1,UGT2A2 nsv514225 4 70502224 70503672 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627665 S 1414 0 1 UGT2A1,UGT2A2 nsv822601 4 70502726 70508913 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423342 S 31 0 1 UGT2A1,UGT2A2 NA18999 nsv511264 4 70503718 70508851 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624833 S 1 0 1 UGT2A1,UGT2A2 1 dgv5625n71 4 70517912 70555186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879447,nsv879445 M 6533 0 18 UGT2A1,UGT2A2 IS30409,IS32166,IS33188,IS33372,IS34397,IS36067,IS38037,IS38337,IS38425,IS38554,IS38754,IS39356,IS39832,IS39996,IS40333,IS41898,IS41955,SP50656 nsv879446 4 70519406 70528582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508704,nssv1514414 M 6533 0 2 UGT2A1,UGT2A2 SP54579,SP56004 nsv521416 4 70522949 70551260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698026 S 2026 0 1 UGT2A1,UGT2A2 dgv659n27 4 70522949 70556344 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461551,nsv461549 M 1557 0 2 UGT2A1,UGT2A2 HGDP00098,HGDP00567 nsv461552 4 70522949 70581842 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537931 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UGT2A1,UGT2A2 HGDP00134 nsv292823 4 70533209 70536135 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311401 M 24 UGT2A1,UGT2A2 nsv879448 4 70536569 70548947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595676 S 6533 1 0 UGT2A1,UGT2A2 IS40297 nsv879449 4 70536569 70575152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568116 S 6533 0 1 UGT2A1,UGT2A2 IS31205 esv268031 4 70620037 70620370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514564 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 dgv5626n71 4 70621927 70688609 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879451,nsv879450 M 6533 0 4 SULT1B1 IS30539,IS31044,IS31179,IS35196 dgv5627n71 4 70736595 70758642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879452,nsv879453 M 6533 0 3 SULT1E1 MS10203,MS16387,MS25750 nsv879454 4 70782787 70842360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575508 S 6533 0 1 CSN1S1 IS33763 nsv879455 4 70788113 70868276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583567 S 6533 0 1 CSN1S1,CSN2 IS36533 dgv5628n71 4 70790675 70933700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879456,nsv879458 M 6533 0 2 CSN1S1,CSN2,HTN3,STATH IS31419,IS36219 dgv5629n71 4 70790675 71048309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879459,nsv879457 M 6533 0 2 CSN1S1,CSN1S2AP,CSN1S2BP,CSN2,HTN1,HTN3,STATH IS31067,IS39450 nsv879460 4 70823759 70966894 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586455 S 6533 1 0 CSN1S1,CSN2,HTN1,HTN3,STATH IS37817 dgv5630n71 4 70907628 71077556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879461,nsv879462,nsv879465 M 6533 0 3 C4orf40,CSN1S2AP,CSN1S2BP,HTN1,HTN3 IS32615,IS35229,MS18847 esv259718 4 70909273 70909572 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398880,essv2397591,essv2398840,essv2398162,essv2397720,essv2394558,essv2401007,essv2396339 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12044,NA18582,NA18949,NA18956,NA18965,NA19099,NA19138 esv275191 4 70909571 70911177 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586150 S 1250 0 1 "" nsv879463 4 70927258 70963413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505559 S 6533 0 1 HTN1,HTN3 SP53687 nsv879464 4 70939986 71029223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579812 S 6533 0 1 CSN1S2AP,HTN1 IS35181 nsv4378 4 70973724 71025589 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3261,nssv3130 M 9 2 0 CSN1S2AP NA12878,NA18555 nsv521934 4 70990731 71016600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694703 S 2026 0 1 "" esv992518 4 70992253 70993230 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565232 S 3 1 0 "" HuRef esv1687534 4 70993232 70993232 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227344 S 2 1 0 "" HuRef nsv517703 4 71002846 71117798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678080,nssv686114,nssv671590,nssv652903,nssv693579,nssv685384,nssv687502,nssv663710,nssv663954,nssv687895,nssv683960,nssv669199 M 2026 0 12 C4orf40,CSN1S2BP,ODAM nsv461553 4 71008116 71060137 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537932 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C4orf40,CSN1S2BP HGDP00934 nsv829963 4 71037850 71189698 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443699,nssv1443700,nssv1443698,nssv1443696,nssv1443697 M 95 5 0 C4orf40,C4orf7,CSN1S2BP,CSN3,ODAM esv2539901 4 71088544 71089959 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176902 S 1 0 1 "" NA18507 nsv879466 4 71101906 71156441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551296 S 6533 0 1 C4orf7,CSN3,ODAM MS18847 nsv822602 4 71114865 71117325 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438766,nssv1435029 M 31 1 1 "" NA18942,NA18973 nsv822603 4 71115035 71117230 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437388 S 31 1 0 "" NA18949 nsv822604 4 71115035 71117325 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439385,nssv1425853,nssv1425990 M 31 0 3 "" NA18547,NA18592,NA18947 dgv879n67 4 71121451 71124100 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822605,nsv822606,nsv822610 M 31 3 0 "" NA18582,NA18949,NA18973 dgv880n67 4 71121559 71124317 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822608,nsv822607,nsv822611 M 31 0 4 "" NA18547,NA18592,NA18942,NA18947 esv268207 4 71127876 71128747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575909,essv2534988,essv2558461,essv2578733,essv2527310,essv2544774,essv2562981,essv2523868,essv2541201,essv2524492,essv2565050,essv2534916,essv2539624,essv2566319,essv2532890,essv2570238,essv2535594,essv2578250,essv2533567,essv2555510,essv2567280,essv2530162,essv2557715,essv2531639,essv2577072,essv2525790,essv2526926,essv2549666,essv2537962,essv2554354 M 157 30 0 Samples from several populations that are part of the HapMap project. C4orf7 NA07000,NA07346,NA11830,NA12249,NA12750,NA18510,NA18522,NA18526,NA18532,NA18537,NA18545,NA18555,NA18558,NA18561,NA18563,NA18572,NA18576,NA18593,NA18608,NA18940,NA18944,NA18945,NA18947,NA18949,NA18953,NA18961,NA18970,NA18980,NA19005,NA19225 nsv822612 4 71146845 71147358 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428218 S 31 0 1 CSN3 AK10 nsv829964 4 71175077 71339531 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443701 S 95 1 0 CABS1,MUC7,PROL1,SMR3A,SMR3B nsv879467 4 71190890 71309878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563845 S 6533 0 1 CABS1,PROL1,SMR3A,SMR3B IS30096 nsv461554 4 71197092 71299761 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537933 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CABS1,PROL1,SMR3A,SMR3B HGDP00615 nsv470046 4 71197092 71302699 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546327 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CABS1,PROL1,SMR3A,SMR3B HGDP00615 dgv321n21 4 71197092 71330622 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520156,nsv528620 M 2026 0 2 CABS1,PROL1,SMR3A,SMR3B nsv819297 4 71245429 71247064 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419297 S 2 1 0 "" AK1 dgv1641e1 4 71250373 71272010 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6049,essv5633 M 271 0 0 SMR3A NA18579,NA18603 dgv1642e1 4 71250373 71356062 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv964,essv4323 M 271 0 0 MUC7,PROL1,SMR3A,SMR3B NA18564 dgv187e55 4 71261142 71286830 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35118,esv34365 M 771 0 2 SMR3A,SMR3B NA18564,NA18623 esv34954 4 71261271 71272029 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979609,essv6979610 M 771 0 1 SMR3A NA18579 nsv10525 4 71261779 71284656 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12588 S 31 0 1 Samples from several populations that are part of the HapMap project. SMR3A,SMR3B NA18564 nsv879468 4 71261801 71279618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499956,nssv1500801 M 6533 0 2 SMR3A SP50532,SP51014 dgv5631n71 4 71261801 71286830 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879470,nsv879469,nsv879471 M 6533 0 23 SMR3A,SMR3B SP50061,SP52082,SP54510,SP54585,SP54879,SP55465,SP55469,SP55548,SP55573,SP55683,SP55695,SP55699,SP56106,SP56185,SP56505,SP56832,SP56856,SP56880,SP56975,SP57269,SP57408,SP57443,SP57779 nsv822613 4 71262093 71284548 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440297 S 31 0 1 SMR3A,SMR3B NA18564 essv4514 4 71262705 71307630 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PROL1,SMR3A,SMR3B NA18623 nsv441887 4 71262854 71283637 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SMR3A,SMR3B nsv517266 4 71263640 71270932 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676642,nssv682578,nssv681876,nssv670103,nssv666700,nssv654162 M 2026 0 6 SMR3A esv998904 4 71268004 71272782 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564817 S 3 1 0 "" HuRef nsv512829 4 71313482 71313632 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625466 S 1 1 0 "" 1 esv1556431 4 71313514 71313514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987252 S 2 1 0 "" HuRef nsv518183 4 71358655 71364079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695604 S 2026 0 1 MUC7 esv1244314 4 71416626 71416678 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807273 S 2 0 1 "" HuRef nsv291166 4 71483640 71483640 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309744 M 24 "" nsv4379 4 71484154 71517956 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4751 S 9 1 0 AMBN NA19129 esv2600978 4 71520435 71524632 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237953 S 1 0 1 "" NA18507 esv1521174 4 71522686 71522686 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767476 S 2 1 0 "" HuRef nsv829965 4 71712598 71891172 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443702 S 95 1 0 ENAM,IGJ,RUFY3,UTP3 nsv4380 4 71805247 71839110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7969 S 9 1 0 RUFY3 NA12156 nsv819488 4 71874143 71874438 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419803 S 2 0 1 RUFY3 AK1 nsv829966 4 71879406 72033745 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443704,nssv1443703 M 95 0 2 GRSF1,MOBKL1A,RUFY3 nsv4381 4 71922747 71957918 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv391 S 9 1 0 GRSF1 NA19240 esv2076165 4 72145077 72145638 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939449 S 1 0 1 "" NA18507 nsv879472 4 72145178 72211493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595918 S 6533 0 1 "" IS40368 esv4339 4 72145202 72145624 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26780 S 1 0 1 Single Asian sample YH "" YH esv1006939 4 72145277 72145436 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576513 S 3 0 1 "" HuRef esv1326491 4 72145281 72145441 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976983 S 2 0 1 "" HuRef nsv441888 4 72164818 72167328 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25163 4 72164964 72175078 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14107 S 451 0 1 "" NA18858 nsv516070 4 72165353 72167168 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661332,nssv691392,nssv666006 M 2026 0 3 "" nsv822614 4 72194885 72198636 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424146 S 31 0 1 "" NA18582 nsv879473 4 72340320 72439536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600267 S 6533 0 1 SLC4A4 IS41866 nsv4382 4 72390441 72435338 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7970 S 9 0 1 SLC4A4 NA12156 esv269898 4 72418412 72418538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500211,essv2499895,essv2494507,essv2501569,essv2507515,essv2502626 M 157 6 0 Samples from several populations that are part of the HapMap project. SLC4A4 NA12006,NA18562,NA18572,NA18608,NA18638,NA18965 esv1975599 4 72430807 72431253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628894 S 1 0 1 SLC4A4 NA18507 nsv4383 4 72445304 72478065 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7095 S 9 1 0 SLC4A4 NA12156 nsv523289 4 72560728 72567378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699029 S 2026 0 1 SLC4A4 esv2476295 4 72599437 72601067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177239 S 1 0 1 SLC4A4 NA18507 nsv4384 4 72603384 72648811 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4752 S 9 0 1 SLC4A4 NA19129 nsv525645 4 72680316 72686455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701799 S 2026 0 1 "" nsv289841 4 72687049 72693073 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308419 M 24 "" nsv829967 4 72687130 72844961 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443705 S 95 0 1 GC dgv5632n71 4 72700617 72820195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879474,nsv879475 M 6533 2 0 "" IS30539,IS41832 nsv519903 4 72732042 72734268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697116 S 2026 0 1 "" esv1487732 4 72769778 72769778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653116 S 2 1 0 "" HuRef nsv822615 4 72827369 72828603 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438099 S 31 1 0 GC NA18951 nsv879476 4 72842211 72853839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499875 S 6533 0 1 GC SP50066 nsv437395 4 72851507 72855136 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467276 S 60 0 1 Samples from several populations that are part of the HapMap project. GC NA19194 nsv879477 4 72855136 73257051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553316 S 6533 1 0 GC,NPFFR2 MS19923 nsv518154 4 72904193 73075198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694206 S 2026 0 1 "" esv272951 4 72933524 72933877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578876,essv2579690 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271786 4 72933535 72933873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571666,essv2536501,essv2522765,essv2543866,essv2545668,essv2554137,essv2558388,essv2564364,essv2578041,essv2519957,essv2561835,essv2528423,essv2552499,essv2532165,essv2550178,essv2537005,essv2523554,essv2541157,essv2540573,essv2565191,essv2519876,essv2560022,essv2566265,essv2531257,essv2532873,essv2567702,essv2569914,essv2563871,essv2572598,essv2539286,essv2555235,essv2533530,essv2555573,essv2566581,essv2530007,essv2555926,essv2531601,essv2573600,essv2575470,essv2538805,essv2524190,essv2545035,essv2546005,essv2533214,essv2554694,essv2524999 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07357,NA11840,NA11920,NA11931,NA11992,NA12003,NA12287,NA12750,NA12751,NA12761,NA12815,NA12874,NA12891,NA18502,NA18505,NA18511,NA18517,NA18537,NA18545,NA18552,NA18558,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18593,NA18603,NA18609,NA18912,NA18943,NA18944,NA18945,NA18948,NA18949,NA18956,NA18961,NA18964,NA19099,NA19108,NA19129,NA19172,NA19239 esv268631 4 72938640 72939000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511441,essv2511208,essv2495250,essv2508007,essv2495371,essv2508367,essv2502551,essv2507709,essv2503827,essv2500294,essv2494310,essv2504123,essv2496181,essv2493624,essv2494897,essv2506113,essv2497314,essv2512944,essv2497125,essv2499981,essv2504542,essv2506363,essv2511252,essv2494399,essv2500090,essv2507689,essv2512650,essv2509955,essv2496100,essv2501586,essv2512915,essv2507065,essv2507353,essv2503130,essv2511075,essv2497962,essv2502357,essv2512391,essv2495989,essv2495201,essv2505641,essv2504830,essv2506544,essv2509629,essv2510435,essv2501971,essv2502056,essv2495034,essv2511555,essv2499575 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07357,NA11920,NA11931,NA11992,NA12003,NA12287,NA12749,NA12750,NA12751,NA12761,NA12891,NA18502,NA18505,NA18511,NA18517,NA18520,NA18523,NA18545,NA18547,NA18552,NA18558,NA18563,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18593,NA18603,NA18608,NA18609,NA18870,NA18912,NA18943,NA18944,NA18945,NA18948,NA18949,NA18961,NA18964,NA19005,NA19099,NA19108,NA19129,NA19172,NA19239,NA19257 esv274168 4 72938643 72938999 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579197,essv2579538 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv879478 4 72942812 73016787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579271,nssv1574712 M 6533 0 2 "" IS33616,IS35083 esv1165662 4 72948081 72948081 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311958 S 2 1 0 "" HuRef esv2185029 4 72960815 72961288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4940400 S 1 0 1 "" NA18507 esv4331 4 72960904 72961306 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26772 S 1 0 1 Single Asian sample YH "" YH nsv822616 4 72968661 72969482 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424923 S 31 1 0 "" AK2 nsv879479 4 72975560 73041463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598403 S 6533 0 1 "" IS41113 esv2033100 4 73048313 73049023 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682338 S 1 0 1 "" NA18507 esv3924 4 73048463 73048897 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26365 S 1 0 1 Single Asian sample YH "" YH esv995866 4 73048490 73048818 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575251 S 3 0 1 "" HuRef dgv151n6 4 73048491 73048836 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291119,nsv291736 M 24 "" esv1603902 4 73048507 73048836 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874198 S 2 0 1 "" HuRef esv7158 4 73048510 73048822 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29599 S 1 0 1 "" SJK nsv879480 4 73080742 73345427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575289 S 6533 0 1 NPFFR2 IS33696 esv270098 4 73134261 73136451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510653 S 157 1 0 Samples from several populations that are part of the HapMap project. NPFFR2 NA18501 nsv508287 4 73151073 73170797 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618739 S 4 0 1 NPFFR2 NA10860 esv2289844 4 73158382 73158819 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769893 S 1 0 1 NPFFR2 NA18507 nsv518185 4 73172184 73180402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695608 S 2026 0 1 NPFFR2 esv269457 4 73189558 73189887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565650,essv2576096,essv2540842,essv2521038,essv2525878,essv2542504,essv2545419,essv2523261,essv2577522,essv2521737,essv2550574,essv2535488,essv2520296,essv2547225,essv2564682,essv2577771,essv2553767,essv2559514,essv2520272,essv2554980,essv2530610,essv2537678,essv2528281,essv2546651,essv2552323,essv2532108,essv2527302,essv2561544,essv2544664,essv2552935,essv2542894,essv2539630,essv2549544,essv2532458,essv2559071,essv2569013,essv2528006,essv2562404,essv2555455,essv2533783,essv2555735,essv2556100,essv2543263,essv2575483,essv2572817,essv2571487,essv2535934,essv2548773,essv2547918,essv2563198 M 157 50 0 Samples from several populations that are part of the HapMap project. NPFFR2 NA06986,NA07037,NA07347,NA10847,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA12003,NA12004,NA12043,NA12144,NA12155,NA12249,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18502,NA18505,NA18522,NA18523,NA18526,NA18542,NA18550,NA18563,NA18564,NA18576,NA18638,NA18861,NA18907,NA18909,NA18943,NA18944,NA18945,NA18956,NA18965,NA19099,NA19143,NA19238 esv273932 4 73189558 73189887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581786,essv2582742,essv2583249,essv2583963 M 7 4 0 Samples from several populations that are part of the HapMap project. NPFFR2 NA12878,NA12891,NA12892,NA19238 esv22388 4 73219567 73222745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11647 S 451 0 1 NPFFR2 NA07045 nsv829968 4 73232213 73370813 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443707 S 95 1 0 ADAMTS3,NPFFR2 esv274134 4 73269216 73269519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581208 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv819500 4 73365382 73365914 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418988 S 2 0 1 ADAMTS3 AK1 nsv879481 4 73418989 73891934 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520438 S 6533 0 1 ADAMTS3 SP51065 dgv5633n71 4 73474604 73569686 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879484,nsv879482,nsv879485 M 6533 0 9 ADAMTS3 IS31145,IS31419,IS35771,IS38235,IS39718,MS13292,MS13727,MS17114,MS25617 nsv879483 4 73474604 73606652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568820 S 6533 0 1 ADAMTS3 IS31359 esv1789836 4 73540786 73540786 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967749 S 2 1 0 ADAMTS3 HuRef esv1266268 4 73540824 73540824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324572 S 2 1 0 ADAMTS3 HuRef dgv1643e1 4 73570041 73648461 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1215,essv11343 M 271 0 0 ADAMTS3 NA19128 dgv1644e1 4 73598235 73648461 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11076,essv14920,essv10719,essv7912 M 271 0 0 ADAMTS3 NA18508,NA19129,NA19138,NA19239 esv1024654 4 73614650 73614650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892934 S 2 1 0 ADAMTS3 HuRef nsv291650 4 73618182 73618182 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310228 M 24 ADAMTS3 nsv4385 4 73624758 73653124 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4753 S 9 0 1 ADAMTS3 NA19129 esv2079277 4 73634420 73634821 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952258 S 1 0 1 ADAMTS3 NA18507 esv1992065 4 73637441 73637897 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602594 S 1 0 1 ADAMTS3 NA18507 esv4638 4 73637538 73637763 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27079 S 1 0 1 Single Asian sample YH ADAMTS3 YH esv996163 4 73637619 73637706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578434 S 3 0 1 ADAMTS3 HuRef nsv289840 4 73637619 73637706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308418 M 24 ADAMTS3 esv1255200 4 73637621 73637709 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075155 S 2 0 1 ADAMTS3 HuRef esv22832 4 73637646 73668082 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19225,esv11918 M 451 1 3 ADAMTS3 NA18505,NA18508,NA19108,NA19129 nsv514226 4 73639200 73837320 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627666 S 1414 0 1 ADAMTS3 nsv441889 4 73639702 73644176 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ADAMTS3 dgv1645e1 4 73640234 73644176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10193,essv15931,essv14820 M 271 0 0 ADAMTS3 NA18515,NA18516,NA18870 essv9286 4 73640234 73648461 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ADAMTS3 NA19137 nsv829969 4 73643446 73810045 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443708 S 95 1 0 ADAMTS3 nsv819816 4 73649858 73654476 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419648 S 2 1 0 ADAMTS3 AK1 esv275196 4 73688580 73693533 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585588 S 1250 0 1 "" nsv527114 4 73747546 73752130 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703496 S 2026 0 1 "" esv28092 4 73770982 73777311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19675 S 451 0 5 "" NA11931,NA12004,NA18858,NA18861,NA19099 esv275043 4 73834636 73841839 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585792,essv2585347 M 1250 1 1 "" dgv1646e1 4 73901882 73989242 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv931,essv19717,essv21469 M 271 0 0 "" NA10830,NA12236 nsv436952 4 73912396 73977981 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466833 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10830 nsv437923 4 73917930 73977514 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468497,nssv468499,nssv468494,nssv468493,nssv468498,nssv468495 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10830,NA12236 nsv818243 4 73926837 73977375 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415570,nssv1415569 M 112 0 2 "" NA10830,NA12236 nsv829971 4 73928617 74099315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443709 S 95 1 0 "" nsv507177 4 73938860 73944860 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621753 S 4 1 0 "" NA10860 nsv523169 4 73971106 74339774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698881 S 2026 1 0 ANKRD17,COX18 nsv513137 4 74049520 74051020 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626630 S 1 0 1 "" 1 esv2453289 4 74049688 74051069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253454 S 1 0 1 "" NA18507 esv2280703 4 74049933 74050858 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637559 S 1 0 1 "" NA18507 esv3197 4 74050074 74050749 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25638 S 1 0 1 Single Asian sample YH "" YH esv6003 4 74050094 74050682 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28444 S 1 0 1 "" SJK esv1004446 4 74050112 74050683 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581700 S 3 0 1 "" HuRef nsv4386 4 74078413 74111357 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7096 S 9 1 0 "" NA12156 esv2506270 4 74107997 74108965 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209860 S 1 1 0 "" NA18507 esv271291 4 74108502 74108587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519234,essv2517525,essv2514120,essv2518729,essv2514971,essv2516352,essv2515687,essv2518077,essv2514479,essv2517868,essv2517230,essv2518348 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12043,NA12045,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA18970,NA19240 esv272667 4 74108502 74108587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581471,essv2581105 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 dgv5634n71 4 74250287 74333980 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879486,nsv879489 M 6533 0 2 ANKRD17 SP53687,SP55878 dgv5635n71 4 74269589 74318618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879487,nsv879488 M 6533 0 2 ANKRD17 SP52094,SP56172 nsv4388 4 74347445 74371866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7972 S 9 1 0 "" NA12156 nsv879490 4 74477696 74504087 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502647 S 6533 1 0 ALB SP51307 esv274665 4 74491109 74491874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581605 S 7 1 0 Samples from several populations that are part of the HapMap project. ALB NA12878 nsv879491 4 74494379 74511271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505263 S 6533 0 1 ALB SP53347 esv2326887 4 74531020 74531446 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929579 S 1 0 1 AFP NA18507 nsv293440 4 74531169 74531232 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312018 M 24 AFP esv992213 4 74531176 74531239 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570513 S 3 0 1 AFP HuRef esv1032914 4 74531237 74531301 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218054 S 2 0 1 AFP HuRef esv272500 4 74649219 74649560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580472,essv2578986 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239 esv270806 4 74649248 74649618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510549,essv2494847,essv2509079,essv2505317,essv2498619,essv2505712,essv2507082,essv2495662,essv2507019,essv2510823,essv2509471,essv2498826,essv2497563,essv2501812 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18519,NA18522,NA18853,NA18858,NA18861,NA18870,NA18916,NA19102,NA19116,NA19129,NA19138,NA19147,NA19239 nsv822617 4 74671487 74672197 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429745 S 31 0 1 RASSF6 AK14 nsv292546 4 74700847 74702882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311124 M 24 RASSF6 nsv437396 4 74771021 74780424 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467277 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 esv25756 4 74774226 74775626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15926 S 451 0 2 "" NA19129,NA19190 nsv519932 4 74774341 74774902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683961,nssv677678,nssv675031,nssv679736,nssv693916,nssv690413,nssv659540,nssv687530 M 2026 0 8 "" esv275137 4 74832198 74836146 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585518,essv2585772 M 1250 1 1 "" nsv4389 4 74909411 74941136 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2470 S 9 1 0 CXCL6,PF4V1 NA18555 esv1309494 4 74920679 74920798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186216 S 2 0 1 "" HuRef nsv525980 4 74950390 75640651 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702199 S 2026 1 0 AREG,CXCL1,CXCL2,CXCL3,CXCL5,EPGN,EREG,MTHFD2L,PF4,PPBP,PPBPL2 esv2574248 4 74965449 74967086 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298530 S 1 0 1 "" NA18507 esv2071430 4 74966326 74966871 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764568 S 1 0 1 "" NA18507 esv2460946 4 74966515 74966676 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265438 S 1 0 1 "" NA18507 nsv290772 4 74966516 74966677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309350 M 24 "" nsv507178 4 74970383 74976383 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621754,nssv620252,nssv622894 M 4 3 0 "" NA10860,NA15510,NA18994 esv1010272 4 75021732 75031945 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564455 S 3 0 1 "" HuRef esv2509358 4 75103235 75104533 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192598 S 1 0 1 "" NA18507 nsv292833 4 75103855 75103964 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311411 M 24 "" nsv291565 4 75104031 75104097 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310143 M 24 "" esv25698 4 75161168 75164305 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14856 S 451 0 1 "" NA11894 esv33684 4 75161275 75164038 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98286 S 51 0 1 "" 21772 nsv437397 4 75295921 75313925 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467278 S 60 0 1 Samples from several populations that are part of the HapMap project. MTHFD2L NA19139 esv29295 4 75297425 75302511 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17727,esv16427 M 451 0 2 MTHFD2L NA18861,NA19257 esv2421669 4 75299976 75301070 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015050,essv5116094,essv5127138,essv5093004,essv5011425,essv5118769,essv5007813,essv5008093,essv5010276,essv5019933,essv5109508,essv5069650,essv5124909,essv5156252,essv5005251,essv5113904,essv5119062,essv5019929,essv5081647,essv5065909,essv5146535,essv5156675,essv5065314,essv5126809,essv5105635,essv5131472,essv5005172,essv5140969,essv5112344,essv5111909,essv5092170,essv5103700,essv5001986,essv5020475,essv5109306,essv5086261,essv5049763,essv5135149,essv5067952,essv5092777,essv5069646,essv5157680,essv5127287,essv5156593,essv5069642,essv5044641,essv5062081,essv5066215 M 1184 0 48 MTHFD2L NA18861,NA18863,NA18870,NA19035,NA19036,NA19138,NA19139,NA19149,NA19151,NA19203,NA19213,NA19214,NA19257,NA19307,NA19346,NA19347,NA19350,NA19352,NA19371,NA19379,NA19429,NA19455,NA19473,NA19657,NA19711,NA19818,NA19828,NA20279,NA20282,NA20322,NA20332,NA20333,NA20344,NA20345,NA20346,NA20347,NA20349,NA20350,NA20357,NA20358,NA21333,NA21352,NA21434,NA21519,NA21573,NA21685,NA21719,NA21826 nsv441890 4 75299976 75301070 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MTHFD2L esv998628 4 75309089 75313976 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563838 S 3 1 0 MTHFD2L HuRef nsv509908 4 75318607 75324607 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618172,nssv621237 M 4 0 2 MTHFD2L CHM,NA15510 esv8809 4 75380359 75380450 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31250 S 1 1 0 MTHFD2L SJK esv2453165 4 75421407 75422917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282667 S 1 0 1 "" NA18507 esv1956818 4 75421892 75422641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645659 S 1 0 1 "" NA18507 nsv290978 4 75448091 75450249 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309556 M 24 EREG dgv94n16 4 75542837 75710718 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436880,nsv436077 M 2 2 0 AREG NA15510,NA18505 nsv508288 4 75607177 75617217 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618740 S 4 0 1 "" NA10860 esv2936 4 75715108 75715336 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25377 S 1 0 1 Single Asian sample YH "" YH esv1009734 4 75715179 75715270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575262 S 3 0 1 "" HuRef esv1469965 4 75715180 75715272 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120986 S 2 0 1 "" HuRef nsv4390 4 75830451 75890783 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7098,nssv392,nssv3262,nssv9396,nssv10409,nssv4754,nssv9644 M 9 0 7 BTC NA12156,NA12878,NA18507,NA18517,NA18956,NA19129,NA19240 nsv508289 4 75853341 75871186 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618741,nssv619937,nssv622490 M 4 0 3 "" NA10860,NA15510,NA18994 esv1003802 4 75860083 75868566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564698 S 3 0 1 "" HuRef nsv822618 4 75860533 75861228 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426236 S 31 1 0 "" NA18592 esv2609746 4 75860779 75868157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387112 S 1 0 1 "" NA18507 nsv513138 4 75861666 75868037 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626631 S 1 0 1 "" 1 dgv44n47 4 75861764 75867837 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499048,nsv499047 M 9 0 2 "" esv1496704 4 75861779 75867836 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127429 S 2 0 1 "" HuRef nsv7363 4 75891158 79776273 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4755 S 9 0 0 ANKRD56,ANXA3,ART3,BTC,C4orf26,CCDC158,CCNG2,CCNI,CDKL2,CNOT6L,CXCL10,CXCL11,CXCL13,CXCL9,FAM47E,FAM47E-STBD1,FRAS1,G3BP2,LOC441025,MIR4450,MRPL1,NAAA,NUP54,PARM1,PPEF2,RCHY1,SCARB2,SDAD1,SEPT11,SHROOM3,STBD1,THAP6,USO1 NA19129 nsv461556 4 75950372 75957816 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537934 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00542 esv267740 4 75955452 75955593 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510997,essv2496697,essv2508018,essv2496431,essv2509044,essv2511706,essv2498719,essv2513072 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11831,NA11894,NA12003,NA18510,NA18522,NA18940,NA19138 nsv521652 4 75980520 76003498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698270 S 2026 0 1 "" nsv879492 4 76307869 76373088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504893,nssv1515237 M 6533 0 2 "" SP52858,SP56143 nsv526880 4 76330390 76353787 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703238 S 2026 1 0 "" esv1724012 4 76331337 76331387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336421 S 2 0 1 "" HuRef nsv4391 4 76414913 76447486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2471 S 9 1 0 "" NA18555 nsv461557 4 76432019 76582501 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537935 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC441025 HGDP01338 dgv5636n71 4 76483520 76557022 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879493,nsv879494 M 6533 4 0 LOC441025 IS31821,IS32717,IS34508,MS19533 esv22366 4 76537256 76538876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16297 S 451 0 1 "" NA12776 nsv822619 4 76570270 76578813 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433600 S 31 0 1 "" NA18526 esv2525937 4 76698362 76699866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198415 S 1 0 1 "" NA18507 esv1982084 4 76698520 76699211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785391 S 1 0 1 "" NA18507 nsv879495 4 76712280 76804847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577283 S 6533 0 1 CDKL2,G3BP2 IS34407 dgv5637n71 4 76712280 76839827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879497,nsv879496 M 6533 0 3 CDKL2,G3BP2 IS33669,IS40819,IS41634 nsv292568 4 76714438 76718623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311146 M 24 "" esv272803 4 76814954 76815127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580408,essv2579037 M 7 2 0 Samples from several populations that are part of the HapMap project. G3BP2 NA12891,NA19239 esv999095 4 76844529 76849066 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563847 S 3 1 0 "" HuRef nsv512830 4 76844532 76844751 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625467 S 1 1 0 "" 1 esv1290780 4 76844696 76844696 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266223 S 2 1 0 "" HuRef nsv509008 4 76891062 76910428 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620791 S 4 1 0 USO1 NA15510 nsv4392 4 76892433 76921275 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3263 S 9 1 0 USO1 NA12878 esv990235 4 76893946 76893994 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565812 S 3 1 0 USO1 HuRef esv22198 4 76962279 76963349 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14694 S 451 0 2 "" NA18508,NA19240 esv1235933 4 77017218 77017218 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162384 S 2 1 0 PPEF2 HuRef nsv822621 4 77075614 77076415 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434366 S 31 0 1 NAAA NA18570 esv1621359 4 77159710 77159710 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679016 S 2 1 0 ART3 HuRef nsv293489 4 77159711 77159711 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312067 M 24 ART3 esv2427313 4 77166800 77168476 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306973 S 1 0 1 ART3 NA18507 esv2225549 4 77167472 77167981 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544006 S 1 0 1 ART3 NA18507 nsv821336 4 77167593 77168071 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420426 S 1 0 1 ART3 NA10851 esv27112 4 77167593 77196804 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20839,esv19222,esv18263 M 451 5 0 ART3,CXCL11 NA11931,NA11993,NA12004,NA12749,NA18861 nsv292553 4 77167635 77167896 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311131 M 24 ART3 nsv513139 4 77183273 77191339 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626633 S 1 0 1 ART3 1 esv272627 4 77212816 77213152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582230,essv2582515,essv2584525,essv2583709 M 7 4 0 Samples from several populations that are part of the HapMap project. ART3 NA12878,NA12891,NA19239,NA19240 esv269359 4 77242814 77243142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543803,essv2545379,essv2577477,essv2576659,essv2535394,essv2558300,essv2564423,essv2520208,essv2553052,essv2538354,essv2540416,essv2534932,essv2561095,essv2549522,essv2519899,essv2560071,essv2522293,essv2532649,essv2563588,essv2553235,essv2572502,essv2533801,essv2555669,essv2566486,essv2529975,essv2534208,essv2573357,essv2538141,essv2554348,essv2525082 M 157 30 0 Samples from several populations that are part of the HapMap project. ART3 NA07000,NA07346,NA07357,NA11992,NA12003,NA12043,NA12154,NA12249,NA12750,NA12751,NA12815,NA18542,NA18547,NA18552,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18576,NA18603,NA18605,NA18609,NA18944,NA18945,NA18948,NA18949,NA18959,NA18964 nsv470047 4 77252614 77315801 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546328 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ART3,NUP54,SCARB2 HGDP01280 nsv461558 4 77252749 77334577 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537936 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ART3,NUP54,SCARB2 HGDP01280 esv275315 4 77259448 77275517 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585633,essv2586157 M 1250 1 1 NUP54 esv995458 4 77312788 77321202 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564319 S 3 0 1 SCARB2 HuRef nsv818244 4 77313855 77315801 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417600 S 112 0 1 SCARB2 NA18978 nsv516357 4 77386266 77397403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676966,nssv689048,nssv660633,nssv667757,nssv671859,nssv654969 M 2026 0 6 FAM47E,FAM47E-STBD1 esv2421530 4 77386266 77397700 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5120569,essv5061172,essv5034028,essv5044042,essv5124490,essv5024647,essv5055390,essv5025218,essv5113826,essv5009204,essv5025311,essv5080974,essv5067563,essv5050890,essv5146127,essv5015996,essv5123052,essv5155003,essv5073353 M 1184 0 19 FAM47E,FAM47E-STBD1 NA19313,NA19316,NA19317,NA19327,NA19334,NA19360,NA19385,NA19390,NA19429,NA19430,NA19443,NA19456,NA19469,NA19470,NA21352,NA21434,NA21573,NA21685,NA21768 nsv461559 4 77411862 77423524 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537937 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM47E,FAM47E-STBD1 HGDP00109 dgv1647e1 4 77483620 77674429 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv818,essv18080 M 271 0 0 CCDC158,SHROOM3 NA12145 nsv441891 4 77508808 77511390 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CCDC158 nsv10526 4 77517215 77541408 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12046 S 31 1 0 Samples from several populations that are part of the HapMap project. CCDC158 NA18552 essv12957 4 77611116 77674429 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SHROOM3 NA19102 essv8045 4 77647035 77674356 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SHROOM3 NA19103 nsv292270 4 77688138 77697403 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310848 M 24 SHROOM3 esv275302 4 77720369 77723424 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585258 S 1250 0 1 SHROOM3 nsv289572 4 77829561 77829561 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308150 M 24 SHROOM3 nsv829972 4 77841560 77937790 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443710 S 95 0 1 SHROOM3 nsv829973 4 77903275 78096385 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443712,nssv1443711 M 95 0 2 ANKRD56,SEPT11,SHROOM3 esv23568 4 77950123 77951638 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14280 S 451 0 1 "" NA11894 nsv526714 4 77985695 77987610 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703054 S 2026 0 1 "" nsv10527 4 77997286 78012010 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13484 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 dgv93n17 4 77999119 78012995 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437399,nsv437398 M 60 0 2 "" NA18515,NA19139 nsv879498 4 77999119 78018873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537068 S 6533 0 1 "" MS13095 esv2609873 4 78000093 78010221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256528 S 1 0 1 "" NA18507 esv2594719 4 78000383 78008205 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320060 S 1 0 1 "" NA18507 esv2088363 4 78000584 78009913 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518623 S 1 0 1 "" NA18507 nsv441892 4 78001593 78006231 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv26642 4 78001807 78006692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15026 S 451 0 1 "" NA18517 nsv514227 4 78002176 78006240 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627667 S 1414 0 1 "" esv2421892 4 78002267 78006228 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046919,essv5120602,essv5010438,essv5144185,essv5070929,essv5151374,essv5128531,essv5153159,essv5109881,essv5074974,essv5142942,essv5125787,essv5151166,essv5102474,essv5010200,essv5145702,essv5093355,essv5143534,essv5042664,essv5148693,essv5056187,essv5017586,essv5156698,essv5096920,essv5113983,essv5120410,essv5044336,essv5096173,essv5107205 M 1184 0 29 "" NA18489,NA18507,NA18515,NA18517,NA18934,NA18935,NA19117,NA19138,NA19139,NA19143,NA19174,NA19176,NA19210,NA19211,NA19383,NA19390,NA19436,NA19468,NA19472,NA19681,NA19683,NA19904,NA20301,NA20344,NA20345,NA20346,NA20347,NA20349,NA20350 esv1706311 4 78017903 78017903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747695 S 2 1 0 "" HuRef esv2611139 4 78068691 78070217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321637 S 1 0 1 "" NA18507 esv2604489 4 78185742 78185983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377681 S 1 0 1 "" NA18507 nsv879499 4 78209928 78222440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510696,nssv1508081 M 6533 0 2 CCNI SP54725,SP54988 nsv879500 4 78264984 78334358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555131 S 6533 0 1 CCNG2 MS21195 esv273507 4 78269668 78269753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581252 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv290177 4 78300380 78300708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308755 M 24 CCNG2 nsv4393 4 78326494 78359695 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4756 S 9 1 0 "" NA19129 esv1936908 4 78418074 78418488 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739431 S 1 0 1 "" NA18507 esv2496027 4 78418246 78418297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382828 S 1 0 1 "" NA18507 dgv153n6 4 78418246 78418301 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291543,nsv290294 M 24 "" esv2056188 4 78455098 78455766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930683 S 1 0 1 "" NA18507 nsv289529 4 78455299 78455564 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308107 M 24 "" esv9364 4 78455309 78455596 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31805 S 1 0 1 "" SJK esv5935 4 78456637 78496529 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28376 S 1 0 1 "" SJK nsv829974 4 78459742 78634666 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443713 S 95 0 1 "" nsv471765 4 78488266 78488799 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646046 M 0.042 95 "" nsv822622 4 78488315 78488825 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433601 S 31 0 1 "" NA18526 dgv881n67 4 78494864 78507007 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822624,nsv822623 M 31 2 0 "" AK4,NA18592 esv2422132 4 78495579 78500367 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117792,essv5042373,essv5137528,essv5048717,essv5002219,essv5043429,essv5140370,essv5140999,essv5016505,essv5029971,essv5035796,essv5006016,essv5122521,essv5077273,essv5125788,essv5014681 M 1184 16 0 "" NA17967,NA17969,NA17980,NA17999,NA18101,NA18125,NA18160,NA18162,NA18536,NA18592,NA18632,NA18674,NA18682,NA18748,NA18940,NA18946 nsv441893 4 78495579 78500367 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33812 4 78546760 78547069 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95555 S 51 0 1 "" 21847 nsv4394 4 78598959 78632265 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv394 S 9 1 0 "" NA19240 nsv829975 4 78645234 78784222 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443714 S 95 1 0 CXCL13 esv29506 4 78711397 78716419 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17745 S 451 0 1 CXCL13 NA18916 nsv4395 4 78748464 78783590 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3264 S 9 1 0 CXCL13 NA12878 nsv461560 4 78753881 78782608 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537938 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01230 nsv829976 4 78795681 78976822 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443715 S 95 1 0 CNOT6L nsv518757 4 78856289 78914162 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696205 S 2026 0 1 CNOT6L nsv879501 4 78866658 79085031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513932 S 6533 0 1 CNOT6L,MRPL1 SP55878 esv2752050 4 78912335 79194345 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988491,essv6982096,essv6982095,essv6986083,essv6986084 M 771 1 0 CNOT6L,MRPL1 BEC_519 esv23755 4 78958939 78960177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14835 S 451 0 1 CNOT6L NA07045 nsv516836 4 78968001 79200943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654330,nssv661580 M 2026 2 0 FRAS1,MRPL1 nsv290015 4 78978630 78978762 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308593 M 24 "" esv273696 4 79056495 79056741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579216 S 7 1 0 Samples from several populations that are part of the HapMap project. MRPL1 NA19239 esv273689 4 79092801 79092909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581935,essv2583248 M 7 2 0 Samples from several populations that are part of the HapMap project. MRPL1 NA12878,NA12892 esv269971 4 79135725 79135810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518069 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv4396 4 79154371 79199729 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7099 S 9 0 1 FRAS1 NA12156 nsv4397 4 79170620 79182229 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3265 S 9 1 0 "" NA12878 esv2635066 4 79183982 79184038 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201539 S 1 0 1 "" NA18507 nsv520625 4 79221679 79290812 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697524 S 2026 1 0 FRAS1 nsv525530 4 79243548 79485587 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701665 S 2026 1 0 FRAS1 esv2240939 4 79269523 79269973 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966350 S 1 0 1 FRAS1 NA18507 nsv879502 4 79271875 79363333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528119,nssv1529528 M 6533 0 2 FRAS1 SP81135,SP81566 nsv829977 4 79301342 79329324 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443718,nssv1443716,nssv1443719 M 95 0 3 FRAS1 nsv879503 4 79327613 79382186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545773 S 6533 0 1 FRAS1 MS16944 nsv829978 4 79363477 79510892 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443722,nssv1443721,nssv1443720 M 95 3 0 FRAS1 esv273327 4 79378504 79378689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579259 S 7 1 0 Samples from several populations that are part of the HapMap project. FRAS1 NA19239 esv271773 4 79378511 79378835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565756,essv2575905,essv2571822,essv2546289,essv2526225,essv2536483,essv2523018,essv2556578,essv2568073,essv2545666,essv2577294,essv2570369,essv2521859,essv2576677,essv2550369,essv2535288,essv2554101,essv2552187,essv2520317,essv2558414,essv2564551,essv2565541,essv2576169,essv2520273,essv2564303,essv2554884,essv2530544,essv2561994,essv2546835,essv2520945,essv2557418,essv2569519,essv2536964,essv2539072,essv2523677,essv2541315,essv2538215,essv2542673,essv2540521,essv2524542,essv2564820,essv2534623,essv2561124,essv2539738,essv2549545,essv2519827,essv2521917,essv2532807,essv2567756,essv2528781,essv2563673,essv2535796,essv2572403,essv2559262,essv2542088,essv2527854,essv2539323,essv2578502,essv2572930,essv2555384,essv2567239,essv2566354,essv2573932,essv2527407,essv2557641,essv2534243,essv2522516,essv2573718,essv2543135,essv2577023,essv2572104,essv2526857,essv2574723,essv2530242,essv2560403,essv2549620,essv2571548,essv2546145,essv2536179,essv2537777,essv2548851,essv2533161,essv2554527,essv2524787,essv2563162 M 157 85 0 Samples from several populations that are part of the HapMap project. FRAS1 NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA11829,NA11830,NA11840,NA11881,NA11918,NA11920,NA11931,NA11994,NA11995,NA12003,NA12043,NA12044,NA12144,NA12154,NA12234,NA12249,NA12287,NA12489,NA12716,NA12750,NA12751,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12892,NA18498,NA18499,NA18508,NA18517,NA18519,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18576,NA18577,NA18579,NA18603,NA18608,NA18609,NA18638,NA18856,NA18907,NA18912,NA18940,NA18942,NA18943,NA18947,NA18948,NA18951,NA18952,NA18953,NA18959,NA18960,NA18964,NA18965,NA18970,NA18973,NA19005,NA19138,NA19141,NA19190,NA19225,NA19238,NA19239 nsv291328 4 79378530 79378530 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309906 M 24 FRAS1 esv1262316 4 79378539 79378539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303307 S 2 1 0 FRAS1 HuRef nsv818246 4 79403362 79440875 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417618 S 112 1 0 FRAS1 NA18978 esv8548 4 79418736 79418817 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30989 S 1 1 0 FRAS1 SJK esv26493 4 79437355 79437962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17647 S 451 0 1 FRAS1 NA19108 esv274552 4 79462632 79462981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580973,essv2579499 M 7 2 0 Samples from several populations that are part of the HapMap project. FRAS1 NA19238,NA19240 esv268611 4 79462662 79462812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509947,essv2496353,essv2501252,essv2506870,essv2512037 M 157 5 0 Samples from several populations that are part of the HapMap project. FRAS1 NA18508,NA18510,NA19093,NA19102,NA19238 nsv4399 4 79470856 79503595 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3266,nssv2472,nssv7100,nssv395,nssv4757 M 9 0 5 FRAS1 NA12156,NA12878,NA18555,NA19129,NA19240 nsv524023 4 79475297 79476734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699885 S 2026 0 1 FRAS1 esv28163 4 79475812 79482053 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14891 S 451 0 1 FRAS1 NA18502 nsv508290 4 79478176 79496999 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619938,nssv617490,nssv622491,nssv618742 M 4 0 4 FRAS1 CHM,NA10860,NA15510,NA18994 nsv292160 4 79484239 79484293 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310738 M 24 FRAS1 nsv819290 4 79485858 79494562 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418550 S 2 0 1 FRAS1 AK1 dgv95n16 4 79487377 79494278 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436404,nsv435786 M 2 0 2 FRAS1 NA15510,NA18505 esv990445 4 79487483 79494913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563502 S 3 0 1 FRAS1 HuRef esv2446951 4 79487501 79494899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243971 S 1 0 1 FRAS1 NA18507 nsv513140 4 79487876 79494233 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626634 S 1 0 1 FRAS1 1 esv2116983 4 79487975 79494424 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876917 S 1 0 1 FRAS1 NA18507 esv4751 4 79488136 79494280 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27192 S 1 0 1 Single Asian sample YH FRAS1 YH nsv499049 4 79488144 79494234 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585910 S 9 0 1 FRAS1 esv8840 4 79488155 79494224 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31281 S 1 0 1 FRAS1 SJK esv2516235 4 79507991 79508955 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393386 S 1 1 0 FRAS1 NA18507 esv270124 4 79508429 79508594 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496635,essv2495461,essv2511382,essv2499356,essv2505105,essv2507939,essv2499445,essv2507738,essv2503792,essv2493379,essv2508878,essv2502771,essv2496613,essv2496756,essv2493243,essv2504228,essv2496236,essv2493720,essv2506270,essv2498275,essv2508737,essv2503265,essv2504552,essv2507870,essv2511334,essv2500658,essv2508142,essv2508439,essv2508715,essv2509952,essv2512869,essv2505276,essv2498481,essv2493932,essv2509212,essv2503542,essv2502423,essv2493076,essv2505468,essv2509384,essv2500771,essv2512832,essv2501408,essv2506690,essv2499142,essv2510392,essv2497066,essv2499815,essv2501851,essv2498259,essv2502266,essv2513088 M 157 52 0 Samples from several populations that are part of the HapMap project. FRAS1 NA10847,NA11894,NA11919,NA11920,NA11994,NA11995,NA12003,NA12044,NA12751,NA12761,NA12776,NA12878,NA12892,NA18486,NA18498,NA18504,NA18505,NA18511,NA18517,NA18523,NA18526,NA18532,NA18542,NA18563,NA18564,NA18570,NA18571,NA18579,NA18582,NA18592,NA18593,NA18609,NA18853,NA18858,NA18871,NA18909,NA18947,NA18948,NA18951,NA18952,NA18953,NA18973,NA18980,NA19093,NA19108,NA19114,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv274682 4 79508441 79508781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581695,essv2583007,essv2584517,essv2583863 M 7 4 0 Samples from several populations that are part of the HapMap project. FRAS1 NA12878,NA12892,NA19239,NA19240 esv27121 4 79518661 79519673 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14779 S 451 0 1 FRAS1 NA19099 esv268025 4 79541973 79542310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558041,essv2575982,essv2542457,essv2536395,essv2543990,essv2570918,essv2577346,essv2525419,essv2550383,essv2558432,essv2559694,essv2576448,essv2554866,essv2561800,essv2537590,essv2528510,essv2546647,essv2540181,essv2557551,essv2552654,essv2578844,essv2550214,essv2562877,essv2523766,essv2553028,essv2542944,essv2524373,essv2534731,essv2549414,essv2528684,essv2541696,essv2528031,essv2578149,essv2533591,essv2527502,essv2573392,essv2526953,essv2574964,essv2546099,essv2537720,essv2548976 M 157 41 0 Samples from several populations that are part of the HapMap project. FRAS1 NA07000,NA07037,NA10851,NA11830,NA11919,NA11920,NA11992,NA11993,NA12043,NA12156,NA12234,NA12750,NA12776,NA12814,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18502,NA18510,NA18511,NA18532,NA18537,NA18542,NA18550,NA18555,NA18561,NA18564,NA18579,NA18592,NA18907,NA18940,NA18944,NA18952,NA18964,NA19005,NA19138,NA19239 esv273460 4 79541976 79542313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582175,essv2582743,essv2583091,essv2584761 M 7 4 0 Samples from several populations that are part of the HapMap project. FRAS1 NA12878,NA12891,NA12892,NA19239 esv259733 4 79560570 79560868 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394799,essv2399067,essv2400330,essv2398479,essv2399704,essv2397809,essv2396107,essv2400084,essv2400978 M 144 0 0 Samples from several populations that are part of the HapMap project. FRAS1 NA07357,NA10851,NA11881,NA11894,NA12828,NA18505,NA18523,NA18861,NA19099 esv274248 4 79578149 79578521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579927,essv2580813,essv2579339 M 7 3 0 Samples from several populations that are part of the HapMap project. FRAS1 NA12892,NA19238,NA19239 esv270686 4 79578165 79578510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557787,essv2541054,essv2521293,essv2542575,essv2536649,essv2556545,essv2568399,essv2545294,essv2523109,essv2577433,essv2558578,essv2564646,essv2537282,essv2547053,essv2569443,essv2540257,essv2524739,essv2560962,essv2539882,essv2549560,essv2530967,essv2541465,essv2570094,essv2559167,essv2527531,essv2531463,essv2577087,essv2572667,essv2571422,essv2535995,essv2538174,essv2563394 M 157 32 0 Samples from several populations that are part of the HapMap project. FRAS1 NA06986,NA07000,NA10847,NA10851,NA11831,NA11894,NA11919,NA11920,NA11994,NA11995,NA12003,NA12004,NA12043,NA12750,NA12751,NA12878,NA12892,NA18508,NA18552,NA18555,NA18562,NA18563,NA18564,NA18573,NA18592,NA18593,NA18638,NA18952,NA18961,NA18970,NA19143,NA19238 nsv290709 4 79578202 79580191 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309287 M 24 FRAS1 nsv4400 4 79579198 79612779 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv396 S 9 1 0 FRAS1 NA19240 esv270847 4 79591142 79591417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557329,essv2550192,essv2566789,essv2556194,essv2538791,essv2574622,essv2572670 M 157 7 0 Samples from several populations that are part of the HapMap project. FRAS1 NA18499,NA18511,NA18853,NA18871,NA19108,NA19138,NA19143 esv24539 4 79640631 79650471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10951 S 451 0 1 FRAS1 NA11931 esv275267 4 79662698 79664663 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585338,essv2585642 M 1250 1 1 FRAS1 nsv822625 4 79664254 79664937 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432783 S 31 0 1 FRAS1 NA18972 nsv822626 4 79664486 79664937 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437390 S 31 0 1 FRAS1 NA18949 esv27534 4 79675151 79675671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16694 S 451 0 1 FRAS1 NA19190 esv273006 4 79730864 79731017 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580869 S 7 1 0 Samples from several populations that are part of the HapMap project. ANXA3 NA19238 esv271571 4 79730928 79731013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518969,essv2518873 M 157 2 0 Samples from several populations that are part of the HapMap project. ANXA3 NA19141,NA19239 esv2424456 4 79891022 79892609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243071 S 1 0 1 "" NA18507 esv26247 4 79916113 79916731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15254 S 451 0 1 BMP2K NA07045 nsv879504 4 79978820 80093299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580361 S 6533 0 1 BMP2K,PAQR3 IS35280 nsv508291 4 79980235 79991940 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618743 S 4 0 1 BMP2K NA10860 esv990407 4 80009948 80012632 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563950 S 3 1 0 BMP2K HuRef nsv829979 4 80038192 80238183 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443723 S 95 1 0 BMP2K,LOC100505875,PAQR3 esv272040 4 80042581 80042963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509911,essv2498536,essv2509214,essv2499771 M 157 4 0 Samples from several populations that are part of the HapMap project. BMP2K NA18508,NA18858,NA18909,NA19225 nsv822627 4 80049898 80050778 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437391 S 31 0 1 BMP2K NA18949 nsv879505 4 80106067 80512070 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539946 S 6533 0 1 LOC100505875,NAA11 MS14630 nsv523154 4 80166194 80168100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698862 S 2026 0 1 LOC100505875 nsv293195 4 80328202 80329323 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311773 M 24 LOC100505875 esv2096264 4 80424565 80425286 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726704 S 1 0 1 LOC100505875 NA18507 dgv154n6 4 80424753 80425095 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293000,nsv291134 M 24 LOC100505875 esv7197 4 80424770 80425090 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29638 S 1 0 1 LOC100505875 SJK esv4281 4 80492771 80493616 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26722 S 1 0 0 Single Asian sample YH "" YH esv5590 4 80492885 80493392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28031 S 1 0 1 "" SJK nsv879506 4 80535441 80823649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539947 S 6533 0 1 GK2,LOC100506035 MS14630 nsv820896 4 80579275 80581836 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420427 S 1 0 1 "" NA10851 nsv822628 4 80579275 80581836 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426598,nssv1435819,nssv1437392,nssv1425694,nssv1435032,nssv1439408,nssv1433602,nssv1422550,nssv1431260,nssv1432784,nssv1425880,nssv1424147,nssv1440298,nssv1425396,nssv1428992,nssv1438100,nssv1438768,nssv1432007,nssv1436553 M 31 0 19 "" AK12,AK18,AK20,AK4,AK6,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973 esv24891 4 80579445 80581836 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20228,esv21033 M 451 31 0 "" NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12287,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv5261 4 80579625 80581811 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27702 S 1 0 1 Single Asian sample YH "" YH esv8461 4 80579648 80581742 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30902 S 1 0 1 "" SJK dgv5638n71 4 80584789 80771223 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879507,nsv879508 M 6533 0 9 LOC100506035 IS32891,IS34762,IS40627,IS41909,IS41984,MS11105,MS19721,MS20030,MS23531 nsv829980 4 80661132 80687799 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443726,nssv1443725,nssv1443724 M 95 0 3 LOC100506035 esv1181170 4 80698755 80698839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325077 S 2 0 1 LOC100506035 HuRef nsv521454 4 80817820 80873044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698065 S 2026 0 1 "" nsv829983 4 80856766 81053336 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443727 S 95 1 0 ANTXR2,GDEP nsv507179 4 80920866 80926866 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617635,nssv621755,nssv622895,nssv620254 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2560123 4 80923412 80924082 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187971 S 1 1 0 "" NA18507 esv269349 4 80960212 80960576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496803,essv2494169,essv2496481,essv2509051,essv2500939,essv2513301,essv2496979,essv2501889 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18510,NA18522,NA18856,NA18907,NA19190,NA19239 esv272294 4 80960218 80960571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580139,essv2580028,essv2581019 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv2486950 4 80986996 80988060 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352193 S 1 1 0 GDEP NA18507 dgv5639n71 4 81091110 81207502 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879509,nsv879510 M 6533 0 2 ANTXR2 IS31179,IS40067 nsv508292 4 81102591 81121339 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622492,nssv619939,nssv617491 M 4 0 3 ANTXR2 CHM,NA15510,NA18994 esv990746 4 81106238 81114425 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565274 S 3 0 1 ANTXR2 HuRef nsv513141 4 81106689 81113112 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626635 S 1 0 1 ANTXR2 1 esv2499655 4 81106710 81114014 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184784 S 1 0 1 ANTXR2 NA18507 esv1971160 4 81106888 81113290 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564919 S 1 0 1 ANTXR2 NA18507 nsv435785 4 81106900 81114109 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466122 S 2 0 1 ANTXR2 NA15510 esv4125 4 81107051 81113181 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26566 S 1 0 1 Single Asian sample YH ANTXR2 YH nsv499050 4 81107070 81113132 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585911 S 9 0 1 ANTXR2 esv8066 4 81107071 81113113 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30507 S 1 0 1 ANTXR2 SJK esv1666878 4 81107086 81113131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856568 S 2 0 1 ANTXR2 HuRef nsv291362 4 81107087 81113131 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309940 M 24 ANTXR2 dgv882n67 4 81112925 81113465 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822630,nsv822629 M 31 20 0 ANTXR2 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18951,NA18968,NA18973,NA18997,NA18999 esv24253 4 81113151 81116012 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17619 S 451 1 0 ANTXR2 NA19190 esv2449837 4 81167236 81168650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251355 S 1 0 1 ANTXR2 NA18507 esv8389 4 81237474 81237548 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30830 S 1 1 0 "" SJK esv29411 4 81342928 81343563 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15401 S 451 0 1 PRDM8 NA07045 esv270901 4 81355684 81355938 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545703,essv2553915,essv2564309,essv2562122,essv2548894,essv2533045,essv2563225 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA10847,NA12003,NA12287,NA12828,NA12874 nsv529019 4 81379871 81404998 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705730 S 2026 1 0 "" esv2437571 4 81520594 81522535 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383365 S 1 0 1 C4orf22 NA18507 esv2012478 4 81521365 81522086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615833 S 1 0 1 C4orf22 NA18507 esv3707 4 81521520 81522056 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26148 S 1 0 1 Single Asian sample YH C4orf22 YH dgv155n6 4 81521551 81521902 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293197,nsv291660 M 24 C4orf22 esv996118 4 81521557 81521895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578072 S 3 0 1 C4orf22 HuRef esv1772075 4 81521563 81521902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263061 S 2 0 1 C4orf22 HuRef esv8483 4 81521564 81521904 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30924 S 1 0 1 C4orf22 SJK nsv4401 4 81571302 81605046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4758 S 9 1 0 C4orf22 NA19129 nsv528410 4 81621798 81630404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705002 S 2026 0 1 C4orf22 esv2287638 4 81675321 81675914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750743 S 1 0 1 C4orf22 NA18507 esv4973 4 81675489 81675779 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27414 S 1 0 1 Single Asian sample YH C4orf22 YH esv1003054 4 81675509 81675704 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575275 S 3 0 1 C4orf22 HuRef esv2557088 4 81675510 81675705 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389160 S 1 0 1 C4orf22 NA18507 esv1761835 4 81675522 81675718 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874673 S 2 0 1 C4orf22 HuRef esv29813 4 81727745 81728978 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9744 S 451 0 1 C4orf22 NA18916 esv22804 4 81750305 81754899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18350 S 451 0 2 C4orf22 NA18517,NA19240 esv2458804 4 81783020 81784187 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263833 S 1 0 1 C4orf22 NA18507 nsv517603 4 82008594 82009235 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656411,nssv652484 M 2026 0 2 C4orf22 nsv517072 4 82012849 82109374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687093,nssv656550,nssv667033,nssv664693,nssv673296,nssv696718,nssv684465,nssv684889,nssv681009,nssv690961,nssv656019,nssv679525,nssv665234,nssv668139,nssv657891,nssv673760,nssv691634,nssv661423,nssv656171,nssv693790,nssv675353,nssv687703,nssv658599,nssv670353,nssv651914,nssv660760,nssv690516,nssv653733,nssv654852,nssv674733,nssv662891,nssv654529,nssv671987,nssv681558,nssv670592 M 2026 0 35 C4orf22 nsv293578 4 82042602 82042667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312156 M 24 C4orf22 nsv525865 4 82083395 82114010 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702063 S 2026 0 1 C4orf22 nsv4402 4 82104270 82138281 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7973 S 9 1 0 "" NA12156 esv271138 4 82118798 82119169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512509,essv2510660,essv2494121,essv2493309,essv2504047,essv2509698,essv2494787,essv2508970,essv2506000,essv2497128,essv2497744,essv2504492,essv2507902,essv2500084,essv2507588,essv2512672,essv2508157,essv2509966,essv2499249,essv2512906,essv2498596,essv2505913,essv2507145,essv2494022,essv2513385,essv2509201,essv2504883,essv2496020,essv2501403,essv2499009,essv2498847,essv2497600,essv2496925,essv2499774,essv2501765,essv2498267 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18502,NA18504,NA18505,NA18508,NA18519,NA18522,NA18523,NA18552,NA18555,NA18563,NA18564,NA18573,NA18576,NA18577,NA18579,NA18593,NA18605,NA18609,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18942,NA18961,NA19093,NA19114,NA19138,NA19147,NA19190,NA19225,NA19239,NA19240 esv272815 4 82118811 82119155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584793,essv2583738 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv521480 4 82160480 82162092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698091 S 2026 0 1 "" nsv829984 4 82199012 82333001 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443729 S 95 1 0 PRKG2 esv2592040 4 82209896 82211498 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176670 S 1 0 1 "" NA18507 esv2180971 4 82210340 82211052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572524 S 1 0 1 "" NA18507 esv3704 4 82210484 82210981 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26145 S 1 0 1 Single Asian sample YH "" YH nsv289899 4 82210540 82210860 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308477 M 24 "" esv1001448 4 82210548 82210868 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567493 S 3 0 1 "" HuRef esv1589461 4 82210554 82210875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830553 S 2 0 1 "" HuRef esv7518 4 82210564 82210865 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29959 S 1 0 1 "" SJK esv22713 4 82273088 82274084 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20844 S 451 0 1 PRKG2 NA19114 esv2526820 4 82315557 82317269 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367600 S 1 0 1 PRKG2 NA18507 nsv4403 4 82417902 82440192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv397 S 9 1 0 "" NA19240 nsv829985 4 82418352 82572680 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443730 S 95 0 1 RASGEF1B esv1000585 4 82518412 82521803 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563602 S 3 0 1 "" HuRef nsv517921 4 82534494 82565859 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695332 S 2026 1 0 "" nsv4404 4 82560010 82605172 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7974 S 9 0 1 RASGEF1B NA12156 nsv829986 4 82564187 82728884 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443745,nssv1443751,nssv1443733,nssv1443742,nssv1443732,nssv1443749,nssv1443738,nssv1443731,nssv1443753,nssv1443734,nssv1443748,nssv1443744,nssv1443737,nssv1443750,nssv1443746,nssv1443735,nssv1443747,nssv1443743,nssv1443736 M 95 9 10 RASGEF1B nsv526616 4 82653764 83437254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702936 S 2026 1 0 "" esv2405506 4 82734223 82734668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895022 S 1 0 1 "" NA18507 esv33488 4 82844053 82847498 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98827 S 51 0 1 "" 21606 esv271800 4 82849139 82849470 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576091,essv2540712,essv2546358,essv2521141,essv2536771,essv2556688,essv2568208,essv2523228,essv2531698,essv2521548,essv2576736,essv2534964,essv2544475,essv2547244,essv2558333,essv2564707,essv2559716,essv2565275,essv2576140,essv2520231,essv2564091,essv2530801,essv2561977,essv2537365,essv2528251,essv2546711,essv2540042,essv2520836,essv2557055,essv2552468,essv2551718,essv2532308,essv2550065,essv2538930,essv2527042,essv2541184,essv2524652,essv2564806,essv2549169,essv2541813,essv2563593,essv2572534,essv2559060,essv2566831,essv2542027,essv2551014,essv2569119,essv2556412,essv2578267,essv2573171,essv2555195,essv2556121,essv2522541,essv2571910,essv2525789,essv2529443,essv2575731,essv2575092,essv2538479,essv2526344,essv2560552,essv2560922,essv2574919,essv2545227,essv2571468,essv2545978,essv2574252,essv2551438,essv2548681,essv2533064,essv2524847 M 157 71 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA11830,NA11831,NA11881,NA11894,NA11920,NA11994,NA11995,NA12004,NA12006,NA12144,NA12154,NA12249,NA12414,NA12717,NA12750,NA12751,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18511,NA18519,NA18522,NA18545,NA18555,NA18558,NA18564,NA18592,NA18603,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18871,NA18940,NA18942,NA18943,NA18956,NA18960,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19172,NA19238,NA19239,NA19240,NA19257 esv273119 4 82849139 82849470 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581776,essv2582418,essv2583077,essv2584090,essv2584413,essv2583391 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1315743 4 82849172 82849172 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895172 S 2 1 0 "" HuRef esv1218379 4 82928424 82928424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249225 S 2 1 0 "" HuRef nsv829987 4 82981157 83003123 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443759,nssv1443755,nssv1443760,nssv1443754,nssv1443761,nssv1443762,nssv1443764,nssv1443771,nssv1443768,nssv1443767,nssv1443766,nssv1443765,nssv1443769,nssv1443770,nssv1443775,nssv1443756,nssv1443758,nssv1443773,nssv1443757,nssv1443772 M 95 0 20 "" nsv289341 4 83042768 83042883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307919 M 24 "" esv4760 4 83042782 83043055 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27201 S 1 0 1 Single Asian sample YH "" YH esv2445848 4 83109325 83110774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358236 S 1 0 1 "" NA18507 esv269265 4 83140886 83146948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2532157,essv2558706,essv2543532,essv2527806,essv2575028,essv2538604,essv2530236,essv2572749,essv2549615 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18516,NA18870,NA18907,NA19102,NA19108,NA19141,NA19143,NA19225 esv1004590 4 83141169 83143080 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563577 S 3 0 1 "" HuRef esv990875 4 83145347 83152055 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564055 S 3 0 1 "" HuRef nsv436433 4 83145437 83150720 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466123 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv513142 4 83148172 83150633 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626636 S 1 0 1 "" 1 esv3534 4 83148273 83150493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25975 S 1 0 1 Single Asian sample YH "" YH esv9568 4 83148316 83150423 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32009 S 1 0 1 "" SJK esv999565 4 83148326 83150416 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571230 S 3 0 1 "" HuRef esv1428043 4 83148337 83150428 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067552 S 2 0 1 "" HuRef nsv290542 4 83148338 83150428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309120 M 24 "" nsv461564 4 83168704 83286695 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537940 S 1557 1 0 "" 1780862563_A nsv290450 4 83363047 83363188 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309028 M 24 "" esv3213 4 83398737 83399189 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25654 S 1 0 1 Single Asian sample YH "" YH esv8988 4 83398802 83399110 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31429 S 1 0 1 "" SJK esv988535 4 83434398 83434472 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584690 S 3 0 1 "" HuRef nsv829988 4 83457161 83629515 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443777,nssv1443776 M 95 0 2 ENOPH1,HNRNPD,HNRPDL,TMEM150C esv268367 4 83462958 83463043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517239 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv270411 4 83541541 83541772 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504024 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv273252 4 83541549 83541807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579369 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv272093 4 83559678 83559763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514528,essv2514095,essv2515357,essv2516459,essv2517860,essv2517362 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12043,NA12249,NA12814,NA12878,NA18970 esv274341 4 83559678 83559763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581408 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv822632 4 83563416 83565082 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421654 S 31 1 0 HNRPDL NA18997 nsv829989 4 83575663 83776911 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443778 S 95 0 1 C4orf11,ENOPH1,SCD5,TMEM150C esv2560060 4 83613885 83615505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373219 S 1 0 1 "" NA18507 esv2050654 4 83614336 83615056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777311 S 1 0 1 "" NA18507 esv1566273 4 83614545 83614866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158478 S 2 0 1 "" HuRef esv8267 4 83614548 83614898 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30708 S 1 0 1 "" SJK esv28726 4 83701603 83702273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14274 S 451 0 1 TMEM150C NA07045 nsv523539 4 83738922 83740286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699316 S 2026 0 1 "" esv259878 4 83765406 83768444 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399479,essv2400816,essv2397740 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA18952,NA18956 nsv879511 4 83836873 83912302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542896 S 6533 0 1 MIR575,SCD5 MS15940 esv8610 4 83848903 83852165 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31051 S 1 0 1 SCD5 SJK nsv292149 4 83849098 83852166 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310727 M 24 SCD5 nsv517479 4 83854700 83862422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690872,nssv661450,nssv691393,nssv680892,nssv687718,nssv680095,nssv658232,nssv671787,nssv684280,nssv689519,nssv691488,nssv652485,nssv682610,nssv679810,nssv677512,nssv654411,nssv674031,nssv653100,nssv691810,nssv654970,nssv660979,nssv681745,nssv685355,nssv666523,nssv659283,nssv662364,nssv667366,nssv659785,nssv660278,nssv663955,nssv656707,nssv669255,nssv687269,nssv668057,nssv669758,nssv652635,nssv669176,nssv671063,nssv656659,nssv689683,nssv668157,nssv659339,nssv659471,nssv681089,nssv691923,nssv662774,nssv672873,nssv652143,nssv683787 M 2026 0 49 SCD5 esv29299 4 83855493 83860265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14413 S 451 0 1 SCD5 NA18916 esv2421771 4 83855747 83859356 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057342,essv5024272,essv5141979,essv5117055,essv5030185,essv5023591,essv5148457,essv5136098,essv5106870,essv5008285,essv5133129,essv5134600,essv5006221,essv5019451,essv5035364,essv5023333,essv5089513,essv5085415,essv5088906,essv5161099,essv5045182,essv5003506,essv5009425,essv5023629,essv5140431,essv5126782,essv5026404,essv5024086,essv5008527,essv5154693,essv5151650,essv5141645,essv5130504,essv5159721,essv5051278,essv5135263,essv5017073,essv5057066,essv5100583,essv5018575,essv5142516 M 1184 0 41 SCD5 NA12275,NA18498,NA18859,NA18868,NA18874,NA18916,NA19118,NA19119,NA19120,NA19174,NA19175,NA19193,NA19214,NA19248,NA19313,NA19332,NA19380,NA19430,NA19435,NA19451,NA19455,NA19457,NA19473,NA19474,NA19819,NA19834,NA19836,NA20297,NA21353,NA21362,NA21371,NA21384,NA21386,NA21387,NA21390,NA21528,NA21587,NA21597,NA21608,NA21615,NA21768 nsv818247 4 83855747 83859356 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416634,nssv1416633,nssv1418444 M 112 0 3 SCD5 NA19119,NA19120,NA19193 nsv441894 4 83856392 83860850 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SCD5 nsv514228 4 83857496 83859080 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627668 S 1414 0 1 SCD5 nsv524141 4 83887434 83891187 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700019 S 2026 1 0 SCD5 nsv291633 4 83931425 83935986 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310211 M 24 SCD5 nsv829990 4 84175474 84329117 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443779 S 95 1 0 COPS4,PLAC8 nsv522237 4 84227286 84398504 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695017 S 2026 1 0 PLAC8 esv2306756 4 84228983 84229400 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797834 S 1 0 1 "" NA18507 nsv829991 4 84254354 84431060 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443780 S 95 0 1 COQ2,PLAC8 esv21663 4 84260667 84261926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16710 S 451 0 1 "" NA12749 nsv526041 4 84277251 84529735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702274 S 2026 0 1 COQ2,HPSE esv7644 4 84278998 84279104 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30085 S 1 1 0 "" SJK esv8690 4 84366367 84366465 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31131 S 1 1 0 "" SJK nsv526192 4 84372634 84398504 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702454 S 2026 1 0 "" nsv829992 4 84384765 84598755 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443781 S 95 0 1 COQ2,HELQ,HPSE,MRPS18C esv2600138 4 84440159 84441670 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373784 S 1 0 1 HPSE NA18507 esv2180695 4 84440539 84441216 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630195 S 1 0 1 HPSE NA18507 esv4639 4 84440715 84441086 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27080 S 1 0 1 Single Asian sample YH HPSE YH esv6001 4 84440728 84441016 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28442 S 1 0 1 HPSE SJK dgv156n6 4 84440733 84441028 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291924,nsv292444 M 24 HPSE esv1009126 4 84440734 84441018 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575467 S 3 0 1 HPSE HuRef esv2448972 4 84440742 84441026 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344523 S 1 0 1 HPSE NA18507 esv1199239 4 84440743 84441028 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349236 S 2 0 1 HPSE HuRef nsv516476 4 84507637 84529735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705402,nssv662971,nssv668598 M 2026 0 3 "" nsv509909 4 84578463 84584463 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621238 S 4 0 1 HELQ NA15510 nsv829994 4 84585323 84777340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443782 S 95 0 1 AGPAT9,FAM175A,HELQ,MRPS18C nsv879512 4 84593716 85309773 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542431 S 6533 1 0 AGPAT9,FAM175A,HELQ,MRPS18C MS15780 nsv829995 4 84640719 84697483 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443783,nssv1443784,nssv1443789,nssv1443793,nssv1443799,nssv1443788,nssv1443786,nssv1443792,nssv1443791,nssv1443798,nssv1443794,nssv1443787,nssv1443795,nssv1443797,nssv1443801,nssv1443800,nssv1443790 M 95 0 17 AGPAT9 esv1757928 4 84661287 84661287 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696954 S 2 1 0 "" HuRef nsv293421 4 84790154 84790207 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311999 M 24 "" nsv517958 4 84831397 84852425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695371 S 2026 0 1 "" nsv879513 4 84831397 85124476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527440 S 6533 1 0 "" SP58416 esv996380 4 84833141 84833244 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577821 S 3 0 1 "" HuRef esv1708022 4 84833320 84833424 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366850 S 2 0 1 "" HuRef esv2545701 4 84986619 84988036 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343758 S 1 0 1 "" NA18507 nsv819495 4 85018622 85020515 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419354 S 2 0 1 "" AK1 nsv822633 4 85106867 85115661 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424149 S 31 0 1 "" NA18582 nsv524354 4 85225999 85434166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700263 S 2026 0 1 "" nsv829996 4 85235697 85392324 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443802 S 95 1 0 "" nsv508294 4 85255003 85292840 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617492 S 4 0 1 "" CHM esv29778 4 85273011 85276234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18264 S 451 0 1 "" NA18523 nsv879514 4 85276148 85491596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525233 S 6533 0 1 "" SP56377 nsv514229 4 85302032 85305384 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627669 S 1414 0 1 "" nsv441895 4 85302053 85308324 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv998684 4 85333813 85340980 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564339 S 3 0 1 "" HuRef nsv441896 4 85346286 85351938 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv829997 4 85463100 85628429 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443803 S 95 1 0 "" nsv4405 4 85492363 85514233 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10410 S 9 1 0 "" NA18956 nsv829998 4 85518717 85692474 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443804 S 95 1 0 NKX6-1 nsv4406 4 85724184 85730486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3131 S 9 1 0 CDS1 NA18555 nsv527581 4 85856659 85859615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704042 S 2026 0 1 WDFY3 esv1008012 4 85948618 85952922 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564016 S 3 1 0 WDFY3 HuRef nsv519588 4 85981409 86810226 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694336 S 2026 1 0 ARHGAP24,WDFY3,WDFY3-AS2 nsv879515 4 86008964 86062268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505561 S 6533 0 1 WDFY3 SP53687 nsv508295 4 86041826 86104051 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618744 S 4 0 1 WDFY3 NA10860 esv269362 4 86070468 86070553 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517145 S 157 1 0 Samples from several populations that are part of the HapMap project. WDFY3 hapmap_pooled_sample_set nsv879516 4 86096585 86114460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518128 S 6533 0 1 WDFY3,WDFY3-AS2 SP57469 nsv461566 4 86207056 86944526 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537941 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGAP24,MIR4451 HGDP00950 nsv470048 4 86217807 86939862 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546329 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGAP24,MIR4451 HGDP00950 nsv822634 4 86217855 86218387 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441017 S 31 0 1 "" NA18969 esv2296793 4 86254104 86254521 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556245 S 1 0 1 "" NA18507 esv2553039 4 86317684 86318734 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280364 S 1 1 0 "" NA18507 esv268319 4 86318306 86318605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514696,essv2519271,essv2517499,essv2516960,essv2518735,essv2514751,essv2515302,essv2515133,essv2516045,essv2514356,essv2517750,essv2516853,essv2517315,essv2519037,essv2515229,essv2518909,essv2518228 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA11918,NA11931,NA12045,NA12234,NA12249,NA12812,NA12873,NA12874,NA12878,NA12892,NA18970,NA19141,NA19238,NA19239,NA19240 esv272203 4 86318311 86318600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581681,essv2583114,essv2584051,essv2584590,essv2583711 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv4407 4 86319287 86352530 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2473 S 9 1 0 "" NA18555 nsv516778 4 86319788 86328644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673880,nssv670763,nssv661989 M 2026 0 3 "" esv2119894 4 86395806 86396247 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662082 S 1 0 1 "" NA18507 esv274906 4 86398807 86403836 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585340 S 1250 0 1 "" esv2640340 4 86457321 86458780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242480 S 1 0 1 "" NA18507 esv2111417 4 86457822 86458282 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891641 S 1 0 1 "" NA18507 esv997064 4 86458001 86458082 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570972 S 3 0 1 "" HuRef esv1300336 4 86458003 86458085 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958434 S 2 0 1 "" HuRef esv2483783 4 86528788 86530364 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219835 S 1 0 1 "" NA18507 esv2314594 4 86529359 86530056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741029 S 1 0 1 "" NA18507 esv3681 4 86529508 86529922 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26122 S 1 0 1 Single Asian sample YH "" YH esv1596217 4 86529547 86529858 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029821 S 2 0 1 "" HuRef esv2460113 4 86529548 86529858 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269624 S 1 0 1 "" NA18507 esv2425088 4 86680931 86682514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303479 S 1 0 1 ARHGAP24 NA18507 esv2234618 4 86681151 86681832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797620 S 1 0 1 ARHGAP24 NA18507 esv2509163 4 86681309 86681629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355055 S 1 0 1 ARHGAP24 NA18507 esv269424 4 86689375 86689701 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565578,essv2575825,essv2540787,essv2521165,essv2525915,essv2542586,essv2522951,essv2556710,essv2568413,essv2545383,essv2523212,essv2577611,essv2521779,essv2550622,essv2550495,essv2535259,essv2554258,essv2552254,essv2547360,essv2529151,essv2558582,essv2564724,essv2578107,essv2565433,essv2576447,essv2520212,essv2563961,essv2554811,essv2530672,essv2561799,essv2537261,essv2528195,essv2547092,essv2557460,essv2556888,essv2551791,essv2532042,essv2578829,essv2550181,essv2538879,essv2569626,essv2527301,essv2542727,essv2524332,essv2564967,essv2559784,essv2567705,essv2567589,essv2569911,essv2535801,essv2543760,essv2556410,essv2527906,essv2539245,essv2534137,essv2534293,essv2538747,essv2526352,essv2524058,essv2530358,essv2560499,essv2571219,essv2574214,essv2535941,essv2538170,essv2549044,essv2533087,essv2554350,essv2548028,essv2563411,essv2558047 M 157 71 0 Samples from several populations that are part of the HapMap project. ARHGAP24 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA11931,NA11994,NA11995,NA12003,NA12004,NA12043,NA12144,NA12155,NA12234,NA12249,NA12287,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18504,NA18505,NA18510,NA18511,NA18519,NA18520,NA18522,NA18550,NA18555,NA18558,NA18570,NA18577,NA18582,NA18593,NA18608,NA18870,NA18871,NA18907,NA18912,NA18916,NA18959,NA19108,NA19114,NA19129,NA19141,NA19190,NA19238,NA19240 esv272223 4 86689377 86689701 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581988,essv2582624,essv2583079,essv2584363,essv2583572 M 7 5 0 Samples from several populations that are part of the HapMap project. ARHGAP24 NA12878,NA12891,NA12892,NA19238,NA19240 esv2228589 4 86710363 86710761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735250 S 1 0 1 ARHGAP24 NA18507 nsv829999 4 86719281 86885043 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443805 S 95 1 0 ARHGAP24,MIR4451 esv2592051 4 86749257 86750735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221230 S 1 0 1 ARHGAP24 NA18507 esv3989 4 86783353 86783882 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26430 S 1 0 1 Single Asian sample YH ARHGAP24 YH esv7427 4 86783386 86783739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29868 S 1 0 1 ARHGAP24 SJK esv2515650 4 86790041 86792919 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185482 S 1 0 1 ARHGAP24 NA18507 esv1939576 4 86790180 86792109 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659645 S 1 0 1 ARHGAP24 NA18507 esv24400 4 86790314 86791956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16910 S 451 0 6 ARHGAP24 NA18505,NA18508,NA18517,NA18523,NA18861,NA19190 esv1208111 4 86803526 86803526 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862966 S 2 1 0 ARHGAP24 HuRef esv269804 4 86826946 86827440 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510213,essv2499398,essv2508880,essv2500259,essv2504090,essv2506712,essv2495798,essv2504399 M 157 8 0 Samples from several populations that are part of the HapMap project. ARHGAP24 NA07000,NA07347,NA10851,NA11994,NA12878,NA12891,NA18505,NA19108 esv273734 4 86826958 86827443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581789,essv2582735 M 7 2 0 Samples from several populations that are part of the HapMap project. ARHGAP24 NA12878,NA12891 esv2106659 4 86836149 86836532 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530787 S 1 0 1 ARHGAP24 NA18507 esv5098 4 86836250 86836512 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27539 S 1 0 1 Single Asian sample YH ARHGAP24 YH esv274900 4 86862766 86863154 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585938,essv2585818 M 1250 1 1 ARHGAP24 nsv290889 4 86873259 86874813 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309467 M 24 ARHGAP24 esv2597045 4 86879138 86880946 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280810 S 1 0 1 ARHGAP24 NA18507 esv1993171 4 86879589 86880304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504925 S 1 0 1 ARHGAP24 NA18507 esv4911 4 86879648 86880206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27352 S 1 0 1 Single Asian sample YH ARHGAP24 YH esv8014 4 86879778 86880098 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30455 S 1 0 1 ARHGAP24 SJK esv1340531 4 86879793 86880115 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968635 S 2 0 1 ARHGAP24 HuRef nsv289665 4 86879794 86880115 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308243 M 24 ARHGAP24 nsv526211 4 86885917 86896131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702475 S 2026 0 1 ARHGAP24 nsv291712 4 86890694 86895823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310290 M 24 ARHGAP24 nsv461567 4 86892912 86896131 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537942 S 1557 0 1 ARHGAP24 1780862066_A nsv879517 4 86896131 86958829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591788 S 6533 0 1 ARHGAP24 IS39022 nsv879518 4 86958829 86997967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575272 S 6533 0 1 ARHGAP24 IS33691 nsv830000 4 86964365 87128083 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443806 S 95 0 1 ARHGAP24 nsv470049 4 86969723 86995512 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546330 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGAP24 HGDP00675 nsv509910 4 86985355 86991355 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622056,nssv621239,nssv618173 M 4 0 3 ARHGAP24 CHM,NA10860,NA15510 nsv879519 4 87005228 87090306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556577 S 6533 0 1 ARHGAP24 MS22104 esv2565886 4 87014785 87016368 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272685 S 1 0 1 ARHGAP24 NA18507 nsv879520 4 87048553 87137256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540560 S 6533 0 1 ARHGAP24 MS14918 esv1427548 4 87161500 87161500 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714876 S 2 1 0 MAPK10 HuRef nsv511259 4 87185351 87202256 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624777 S 1 0 1 MAPK10 1 nsv517318 4 87194086 87209051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670291,nssv664044,nssv656810,nssv669977,nssv674102,nssv661963,nssv688230,nssv671133,nssv665481,nssv666657,nssv681671,nssv660442,nssv689982,nssv658507,nssv654295,nssv665235,nssv653819,nssv657508,nssv655480,nssv652605,nssv666597,nssv656412,nssv675910,nssv688723,nssv663496,nssv654105,nssv683596,nssv677099,nssv670490,nssv664713,nssv656844,nssv660980,nssv665339,nssv658859,nssv682272,nssv691836,nssv668644,nssv684169,nssv675179,nssv687896,nssv661614,nssv660999,nssv677030,nssv664568,nssv662212,nssv688349,nssv669439,nssv678850,nssv660796,nssv661178,nssv692877,nssv664958,nssv675646,nssv693838,nssv666701,nssv690164,nssv658829,nssv672456,nssv658265,nssv678538,nssv659284,nssv674351,nssv655043,nssv671404,nssv686428,nssv682853,nssv689631,nssv683696,nssv694021,nssv685747,nssv674783,nssv666327,nssv672143,nssv676509,nssv676121,nssv670566,nssv655409,nssv656954,nssv654971,nssv663050,nssv658600,nssv675450,nssv677820,nssv684339,nssv658893,nssv676018,nssv665134,nssv675417,nssv688269,nssv652122,nssv693610,nssv663526,nssv668058,nssv656367,nssv661424 M 2026 0 95 MAPK10 nsv10529 4 87194902 87199910 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11675,nssv12037,nssv13407,nssv12661,nssv13191 M 31 0 5 Samples from several populations that are part of the HapMap project. MAPK10 NA10847,NA11830,NA18860,NA19132,NA19240 esv2422128 4 87195118 87198968 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5021085,essv5122589,essv5132194,essv5014325,essv5160611,essv5156619,essv5050622,essv5105187,essv5045476,essv5040011,essv5160348,essv5032452,essv5100020,essv5019780,essv5061723,essv5079503,essv5154336,essv5103687,essv5095428,essv5011259,essv5027172,essv5156237,essv5153730,essv5078530,essv5104035,essv5017529,essv5093937,essv5138661,essv5019852,essv5147749,essv5042225,essv5112162,essv5012900,essv5146526,essv5034593,essv5029966,essv5122569,essv5114358,essv5135190,essv5049934,essv5044533,essv5046949,essv5141400,essv5068849,essv5064875,essv5031834,essv5097763,essv5117299,essv5086426,essv5002236,essv5109102,essv5063053,essv5042389,essv5013880,essv5125046,essv5142789,essv5032195,essv5041939,essv5154591,essv5076729,essv5017886,essv5121220,essv5159568,essv5095549,essv5011550,essv5103544,essv5131525,essv5078128,essv5117596,essv5102794,essv5057258,essv5062355,essv5034812,essv5119910,essv5110720,essv5018621,essv5067078,essv5097801,essv5133878,essv5037538,essv5017261,essv5032887,essv5137093,essv5026649,essv5108101,essv5068808,essv5063504,essv5106690,essv5068139,essv5086017,essv5091693,essv5119182,essv5007020,essv5044995,essv5077753,essv5087455,essv5071658,essv5066392,essv5013610,essv5030286,essv5135603,essv5046934,essv5147495,essv5061288,essv5143064,essv5135970,essv5075684,essv5023267,essv5146967,essv5136501,essv5100551,essv5100922,essv5112855,essv5125766,essv5157365,essv5095454,essv5099951,essv5072468,essv5049569,essv5025834,essv5118329,essv5158020,essv5064479,essv5132450,essv5157978,essv5152577,essv5083191,essv5079442,essv5141948,essv5048945,essv5057153,essv5022469,essv5138696,essv5160634,essv5134097,essv5016187,essv5117187,essv5023119,essv5116515,essv5134147,essv5009847,essv5146864,essv5042355,essv5071012,essv5097700,essv5146389,essv5061658,essv5141477 M 1184 0 148 MAPK10 NA07357,NA10847,NA10852,NA11830,NA11881,NA12005,NA12057,NA12146,NA12154,NA12546,NA12750,NA12753,NA12763,NA12776,NA12801,NA12812,NA12817,NA12828,NA12878,NA12891,NA18485,NA18486,NA18488,NA18489,NA18497,NA18498,NA18499,NA18506,NA18508,NA18510,NA18857,NA18858,NA18860,NA18862,NA18863,NA18916,NA18930,NA19044,NA19096,NA19097,NA19098,NA19108,NA19109,NA19117,NA19118,NA19121,NA19123,NA19130,NA19132,NA19140,NA19142,NA19149,NA19151,NA19159,NA19174,NA19185,NA19190,NA19191,NA19192,NA19194,NA19206,NA19226,NA19239,NA19240,NA19248,NA19313,NA19318,NA19324,NA19327,NA19334,NA19379,NA19382,NA19404,NA19436,NA19439,NA19446,NA19463,NA19473,NA19678,NA19679,NA19835,NA19836,NA19900,NA19901,NA19914,NA19915,NA19982,NA20281,NA20297,NA20301,NA20332,NA20341,NA20342,NA20343,NA20347,NA20517,NA20538,NA20582,NA20586,NA20588,NA20768,NA20806,NA20807,NA20828,NA21106,NA21295,NA21300,NA21308,NA21309,NA21311,NA21314,NA21320,NA21336,NA21352,NA21364,NA21381,NA21383,NA21408,NA21421,NA21441,NA21454,NA21455,NA21457,NA21475,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21509,NA21517,NA21520,NA21523,NA21524,NA21525,NA21526,NA21576,NA21577,NA21582,NA21617,NA21619,NA21632,NA21685,NA21689,NA21716,NA21768,NA21784 nsv442912 4 87195118 87198968 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MAPK10 nsv513143 4 87195366 87199082 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626637 S 1 0 1 MAPK10 1 nsv471766 4 87195411 87198976 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646047 M 0.193 95 MAPK10 esv26690 4 87195415 87199036 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15242 S 451 0 10 MAPK10 NA12776,NA12878,NA18508,NA18523,NA18858,NA18907,NA18916,NA19108,NA19190,NA19240 nsv514230 4 87195520 87198896 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627671 S 1414 0 1 MAPK10 dgv660n27 4 87198106 87198951 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461571,nsv461569,nsv461573,nsv461568,nsv461570 M 1557 0 5 MAPK10 HGDP00627,HGDP00643,HGDP00994,HGDP01033,NINDS_100 nsv818248 4 87198106 87198951 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418362,nssv1418361,nssv1415571,nssv1416054,nssv1416053,nssv1415947,nssv1418445,nssv1418446 M 112 0 8 MAPK10 NA10847,NA12146,NA12154,NA12750,NA12801,NA12812,NA19192,NA19194 nsv879521 4 87198951 87384782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567300,nssv1551297 M 6533 0 2 MAPK10 IS31067,MS18847 nsv820309 4 87235627 87236666 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419158 S 2 1 0 MAPK10 AK1 nsv4408 4 87271291 87287770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7976 S 9 1 0 MAPK10 NA12156 dgv25e194 4 87285190 87285778 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2205262,esv2410554 M 1 0 1 MAPK10 NA18507 esv5249 4 87285296 87285707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27690 S 1 0 1 Single Asian sample YH MAPK10 YH nsv291104 4 87285393 87285574 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309682 M 24 MAPK10 dgv1648e1 4 87294783 87357789 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24330,esv1124 M 271 0 0 MAPK10 NA11882 essv19743 4 87323194 87357789 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MAPK10 NA10859 nsv515925 4 87361272 87384782 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679028,nssv665322,nssv654594,nssv659855 M 2026 0 4 MAPK10 esv29871 4 87367098 87371343 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18605 S 451 1 0 MAPK10 NA11931 nsv461574 4 87458788 87498120 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537949 S 1557 0 1 MAPK10 1780854327_A dgv1649e1 4 87636315 87908557 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5660,esv1400 M 271 0 0 PTPN13 NA18526 nsv4411 4 87665750 87699539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4760 S 9 1 0 "" NA19129 nsv879522 4 87692800 87863866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525987 S 6533 0 1 PTPN13 SP56914 nsv822635 4 87698600 87841200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433603 S 31 0 1 PTPN13 NA18526 dgv5640n71 4 87736633 87822953 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879524,nsv879523 M 6533 0 2 PTPN13 IS41889,MS21294 nsv830001 4 87804302 87967667 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443808 S 95 0 1 PTPN13,SLC10A6 nsv508296 4 87855374 87886396 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617493,nssv618745 M 4 0 2 PTPN13 CHM,NA10860 esv999120 4 87865114 87872038 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564881 S 3 0 1 PTPN13 HuRef nsv528327 4 87896281 87898666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704908 S 2026 0 1 PTPN13 nsv507180 4 87925217 87931217 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621756,nssv617636 M 4 2 0 PTPN13 CHM,NA10860 esv2653947 4 87944445 87945916 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183879 S 1 0 1 PTPN13 NA18507 nsv508297 4 87997807 88087532 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618746 S 4 0 1 AFF1,C4orf36,LOC100506746 NA10860 nsv291773 4 88103367 88110055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310351 M 24 AFF1 nsv879525 4 88183387 88252376 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593268 S 6533 1 0 AFF1 IS39391 nsv507181 4 88215046 88221046 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617637 S 4 1 0 AFF1 CHM esv1008659 4 88251164 88251495 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581330 S 3 0 1 AFF1 HuRef esv1030392 4 88251179 88251511 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766072 S 2 0 1 AFF1 HuRef nsv879526 4 88281635 88306856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514415 S 6533 0 1 KLHL8 SP56004 esv1001550 4 88293440 88297591 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586276 S 3 0 1 "" HuRef esv993159 4 88293763 88299017 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564077 S 3 0 1 "" HuRef nsv822636 4 88359823 88360563 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431263 S 31 1 0 KLHL8 AK18 nsv516203 4 88386902 88447252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686936,nssv674175,nssv666796,nssv659076 M 2026 0 4 HSD17B13 nsv470050 4 88405533 88447252 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546332,nssv546333 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSD17B13 HGDP00623,HGDP00691 nsv879527 4 88413194 88469227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564856 S 6533 0 1 HSD17B13 IS30311 nsv525583 4 88453617 88458174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701722 S 2026 0 1 HSD17B13 nsv4412 4 88456837 88502392 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9398,nssv3268,nssv7977,nssv4761 M 9 0 4 HSD17B11,HSD17B13 NA12156,NA12878,NA18517,NA19129 nsv293508 4 88457768 88460558 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312086 M 24 HSD17B13 esv273549 4 88473111 88473399 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579254 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv2559237 4 88486480 88493865 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286342 S 1 0 1 HSD17B11 NA18507 nsv436424 4 88486644 88493378 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466124 S 2 0 1 Samples from several populations that are part of the HapMap project. HSD17B11 NA18505 nsv513144 4 88486951 88493437 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626638 S 1 0 1 HSD17B11 1 esv2000200 4 88487103 88493519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780744 S 1 0 1 HSD17B11 NA18507 nsv499051 4 88487267 88493340 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585912 S 9 0 1 HSD17B11 nsv293528 4 88487285 88493339 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312106 M 24 HSD17B11 esv2057903 4 88510717 88511420 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700683 S 1 0 1 HSD17B11 NA18507 esv1410990 4 88519056 88519116 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254019 S 2 0 1 HSD17B11 HuRef esv2621584 4 88702246 88706013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195416 S 1 0 1 "" NA18507 esv2413032 4 88702719 88705538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879623 S 1 0 1 "" NA18507 nsv513145 4 88702807 88705390 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626639 S 1 0 1 "" 1 dgv125e180 4 88702849 88705535 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1001230,esv994038 M 3 0 1 "" HuRef esv3137 4 88702881 88705404 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25578 S 1 0 1 Single Asian sample YH "" YH esv6563 4 88702907 88705333 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29004 S 1 0 1 "" SJK nsv291403 4 88702908 88705336 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309981 M 24 "" nsv436439 4 88702929 88706249 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466125 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2581729 4 88755337 88756833 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308587 S 1 0 1 DSPP NA18507 esv2752051 4 88844460 88891749 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981926,essv6989544 M 771 0 1 "" BEC_501 nsv436953 4 88881514 88899106 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466834 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10859 dgv1650e1 4 88887605 88934348 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19875,esv946 M 271 0 0 "" NA11881 esv34597 4 88888412 88891745 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978132,essv6978131 M 771 0 1 "" NA11881 essv19745 4 88888412 88891749 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10859 nsv515943 4 88951716 88951935 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665396,nssv701677,nssv685671 M 2026 1 2 IBSP dgv322n21 4 88951787 88952555 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526279,nsv527296 M 2026 0 2 IBSP nsv822637 4 88969597 88970049 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424150 S 31 1 0 MEPE NA18582 dgv94n17 4 88973585 88990022 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437403,nsv437400,nsv437401 M 60 0 3 MEPE NA18863,NA19103,NA19142 esv275333 4 88986032 88989583 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585387,essv2585157 M 1250 1 1 MEPE esv275539 4 88989583 88992119 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585657 S 1250 0 1 "" nsv509911 4 88993983 88999983 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623948,nssv621240,nssv622057 M 4 0 3 "" NA10860,NA15510,NA18994 nsv513146 4 88994252 88995141 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626640 S 1 0 1 "" 1 esv1118723 4 88994673 88994990 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610641 S 2 0 1 "" HuRef esv2645624 4 89009073 89010047 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187652 S 1 1 0 "" NA18507 nsv7364 4 89028718 89116840 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11088,nssv4762,nssv3269,nssv9646,nssv9645,nssv9399,nssv7101,nssv10411,nssv7102,nssv398,nssv4763 M 9 0 0 HSP90AB3P,SPP1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18956,NA19129,NA19240 esv273986 4 89048625 89048960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581130 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv996944 4 89064966 89077766 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565824 S 3 0 0 "" HuRef dgv44n50 4 89065133 89077725 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513659,nsv513658 M 1 0 0 "" 1 dgv45n47 4 89066188 89077725 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499624,nsv499807,nsv499505 M 9 0 0 "" esv7464 4 89066405 89077736 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29905 S 1 0 0 "" SJK nsv436706 4 89069504 89078070 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466126 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv524904 4 89087979 89088110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700915 S 2026 0 1 "" nsv517555 4 89106369 89107137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672635,nssv652349,nssv659438 M 2026 0 3 "" dgv1651e1 4 89137575 89432143 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23649,essv18596,esv776 M 271 0 0 ABCG2,PKD2,PPM1K NA10863,NA12234 nsv10530 4 89137951 89142582 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12236 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv513147 4 89139530 89140777 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626641 S 1 0 1 "" 1 esv6231 4 89139812 89140306 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28672 S 1 0 1 "" SJK esv25882 4 89147649 89148535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14618 S 451 0 1 PKD2 NA07045 essv19863 4 89177516 89348280 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ABCG2,PKD2 NA12234 nsv4413 4 89223930 89269372 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7103 S 9 0 1 ABCG2 NA12156 nsv10531 4 89239390 89303417 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11886 S 31 1 0 Samples from several populations that are part of the HapMap project. ABCG2 NA10863 nsv441897 4 89243112 89300463 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABCG2 esv2452870 4 89256253 89257943 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238419 S 1 0 1 ABCG2 NA18507 esv2381400 4 89256498 89257246 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554621 S 1 0 1 ABCG2 NA18507 esv4251 4 89256634 89257213 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26692 S 1 0 1 Single Asian sample YH ABCG2 YH nsv292910 4 89256693 89257028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311488 M 24 ABCG2 esv7989 4 89256698 89257028 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30430 S 1 0 1 ABCG2 SJK esv1001700 4 89256704 89257039 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570465 S 3 0 1 ABCG2 HuRef esv1361477 4 89256710 89257046 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693487 S 2 0 1 ABCG2 HuRef nsv4414 4 89257029 89289105 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7104 S 9 1 0 ABCG2 NA12156 esv33059 4 89258173 89273398 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95649 S 51 0 1 ABCG2 21841 nsv818249 4 89270022 89298410 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417394,nssv1417405 M 112 2 0 ABCG2 NA10863,NA12234 dgv5641n71 4 89275739 89287761 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879528,nsv879529 M 6533 0 3 ABCG2 IS31564,IS39666,IS41924 nsv879530 4 89278941 89286550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584594,nssv1590413,nssv1572389,nssv1589154,nssv1587660 M 6533 0 5 ABCG2 IS33027,IS37068,IS38092,IS38298,IS38507 nsv509009 4 89291271 89329895 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619377 S 4 1 0 ABCG2 NA10860 nsv4415 4 89302520 89321592 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3270,nssv4764 M 9 2 0 "" NA12878,NA19129 esv992731 4 89311683 89312014 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564379 S 3 1 0 "" HuRef nsv10532 4 89427203 89429190 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13467 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv879531 4 89477647 89608663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533912 S 6533 0 1 HERC5,HERC6 MS11332 nsv461575 4 89696025 89786790 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537950 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HERC3 HGDP00614 nsv290332 4 89717792 89717792 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308910 M 24 "" esv2640318 4 89741201 89742664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213680 S 1 0 1 HERC3 NA18507 esv2278581 4 89741752 89742453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730027 S 1 0 1 HERC3 NA18507 esv5387 4 89741865 89742321 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27828 S 1 0 1 Single Asian sample YH HERC3 YH nsv291508 4 89741948 89742262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310086 M 24 HERC3 nsv461576 4 89761304 91679711 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537951 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM13A,FAM13A-AS1,FAM190A,GPRIN3,HERC3,MMRN1,NAP1L5,SNCA,TIGD2 HGDP00721 esv1953449 4 89839112 89839443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556908 S 1 0 1 HERC3 NA18507 nsv470051 4 89863954 90862167 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546334,nssv546335 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM13A,FAM13A-AS1,GPRIN3,TIGD2 HGDP00351,HGDP00721 esv2589450 4 89899864 89901369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247829 S 1 0 1 FAM13A NA18507 esv1980466 4 89900294 89900999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974038 S 1 0 1 FAM13A NA18507 esv1010735 4 89900494 89900815 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583142 S 3 0 1 FAM13A HuRef esv1378129 4 89900496 89900818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964578 S 2 0 1 FAM13A HuRef esv2647176 4 89904457 89906058 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329197 S 1 0 1 FAM13A NA18507 nsv4416 4 89992912 90001409 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10412 S 9 1 0 FAM13A NA18956 dgv5642n71 4 90030218 90136158 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879532,nsv879533 M 6533 0 18 FAM13A IS35018,IS35952,IS39512,IS41992,MS10393,MS19277,MS20440,MS20630,MS21249,MS21325,MS21397,MS22008,MS22109,MS22421,MS22898,MS22993,MS23184,MS23495 esv1054095 4 90052395 90052447 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171093 S 2 0 1 FAM13A HuRef nsv461577 4 90123147 90205349 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537952 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM13A HGDP00541 esv270228 4 90182250 90182481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514932,essv2515896,essv2514233,essv2517573 M 157 4 0 Samples from several populations that are part of the HapMap project. FAM13A NA12812,NA12873,NA12874,NA12878 esv274118 4 90182250 90182481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581470 S 7 1 0 Samples from several populations that are part of the HapMap project. FAM13A NA12878 nsv822638 4 90182725 90183260 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441019 S 31 1 0 FAM13A NA18969 nsv436954 4 90203301 90222109 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466835 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12707 esv1425731 4 90237064 90237206 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831528 S 2 0 1 "" HuRef nsv292694 4 90237353 90237512 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311272 M 24 "" nsv470052 4 90274921 90294407 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546336 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01396 nsv830002 4 90275255 90477888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443809 S 95 1 0 GPRIN3 nsv292378 4 90297530 90297530 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310956 M 24 "" esv25243 4 90320131 90326529 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16775 S 451 4 0 "" NA11995,NA12004,NA12749,NA12776 nsv822639 4 90321311 90326245 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425695,nssv1428994 M 31 2 0 "" AK12,AK4 nsv819116 4 90387322 90387653 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418737 S 2 1 0 GPRIN3 AK1 esv992730 4 90497600 90497600 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577139 S 3 1 0 "" HuRef esv1133548 4 90497626 90497626 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603782 S 2 1 0 "" HuRef nsv523809 4 90528335 90529716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699639 S 2026 0 1 "" nsv830003 4 90550852 90757157 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443811,nssv1443810 M 95 0 2 "" nsv471767 4 90646818 90647687 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646048 M 0.258 95 "" esv25925 4 90646853 90647888 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18343 S 451 0 5 "" NA06985,NA18909,NA18916,NA19114,NA19225 dgv883n67 4 90646902 90647871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822641,nsv822640 M 31 0 4 "" AK10,AK16,AK18,NA18949 nsv879534 4 90717156 90810912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572446 S 6533 0 1 "" IS33060 nsv4417 4 90734859 90779462 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4673 S 9 0 1 "" NA19129 esv4642 4 90767267 90767761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27083 S 1 0 1 Single Asian sample YH "" YH esv28072 4 90781981 90782601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17214 S 451 0 1 "" NA12489 nsv879535 4 90784241 90843876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597725,nssv1596657 M 6533 2 0 "" IS40588,IS41009 dgv661n27 4 90791345 90849924 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461579,nsv461578,nsv461580 M 1557 3 0 "" HGDP00351,HGDP00359,HGDP00392 esv26435 4 90799456 90811311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14771 S 451 0 1 "" NA18511 nsv522681 4 90822067 90849924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706089 S 2026 1 0 "" nsv879536 4 90897564 90994235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594954 S 6533 0 1 SNCA IS40067 nsv830005 4 91018421 91182443 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443812 S 95 0 1 MMRN1 nsv4418 4 91044508 91078625 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7978 S 9 1 0 MMRN1 NA12156 nsv516189 4 91085842 91171447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666679,nssv688363,nssv671329,nssv689815 M 2026 0 4 MMRN1 nsv470053 4 91098636 91658596 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546337,nssv546338 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM190A HGDP00721,HGDP01357 nsv879537 4 91102070 91384369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572727 S 6533 1 0 FAM190A IS33162 esv2488915 4 91185200 91186595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393628 S 1 0 1 "" NA18507 nsv830006 4 91190679 91405363 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443813 S 95 0 1 FAM190A nsv879538 4 91212195 91299331 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514505,nssv1506754 M 6533 0 2 FAM190A SP54402,SP56007 nsv879539 4 91234486 91284375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504874 S 6533 0 1 FAM190A SP52835 nsv879540 4 91375127 91431115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568277 S 6533 0 1 FAM190A IS31228 nsv879541 4 91375127 91472378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576035 S 6533 0 1 FAM190A IS33864 nsv437924 4 91390813 91416815 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468500 S 269 0 1 Samples from several populations that are part of the HapMap project. FAM190A NA11832 nsv879542 4 91404229 91506227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567301 S 6533 0 1 FAM190A IS31067 nsv818250 4 91414892 91431115 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416337,nssv1416336 M 112 0 2 FAM190A NA18855,NA18857 nsv524051 4 91414892 91446704 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699916 S 2026 1 0 FAM190A esv2421773 4 91506179 91510539 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5115077,essv5090282,essv5100834,essv5156819,essv5025160,essv5060533,essv5095381,essv5004131,essv5136664,essv5039864,essv5096631,essv5085183,essv5008807,essv5013078 M 1184 0 14 FAM190A NA07000,NA12248,NA12375,NA12818,NA12830,NA18546,NA19679,NA19750,NA19751,NA20754,NA20769,NA20792,NA20885,NA20901 nsv441898 4 91506179 91510539 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM190A nsv435791 4 91506187 91511327 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466127 S 2 0 1 FAM190A NA15510 esv25904 4 91506911 91511512 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20790 S 451 0 1 FAM190A NA15510 esv269788 4 91513077 91513162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518779 S 157 1 0 Samples from several populations that are part of the HapMap project. FAM190A NA12045 dgv157n6 4 91600207 91600526 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291976,nsv291459 M 24 FAM190A dgv158n6 4 91601223 91601551 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291145,nsv292507 M 24 FAM190A nsv879543 4 91647147 91743308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542290 S 6533 0 1 FAM190A MS15749 esv2477126 4 91651668 91653181 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214325 S 1 0 1 FAM190A NA18507 nsv879544 4 91672956 91709441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516924 S 6533 0 1 FAM190A SP56976 nsv435810 4 91672966 91677089 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466129 S 2 0 1 FAM190A NA15510 esv270975 4 91719835 91720092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509177,essv2498658,essv2512052,essv2498196 M 157 4 0 Samples from several populations that are part of the HapMap project. FAM190A NA18909,NA19138,NA19238,NA19240 esv273690 4 91719970 91720236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580061 S 7 1 0 Samples from several populations that are part of the HapMap project. FAM190A hapmap_pooled_sample_set dgv5643n71 4 91765403 91825412 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879545,nsv879546 M 6533 0 4 FAM190A IS30616,IS31044,IS31205,IS38263 nsv879547 4 91765403 91880240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552826 S 6533 0 1 FAM190A MS19634 nsv879548 4 91777509 91880240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516999 S 6533 1 0 FAM190A SP57021 dgv5644n71 4 91787553 91834618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879551,nsv879549,nsv879550 M 6533 0 9 FAM190A IS35742,IS41043,MS10727,MS10802,MS12827,MS13154,MS21252,MS23290,MS25751 esv2002805 4 91788495 91788925 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857201 S 1 0 1 FAM190A NA18507 nsv4419 4 91801416 91831993 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3271,nssv10413,nssv2474,nssv4765,nssv7105 M 9 0 5 FAM190A NA12156,NA12878,NA18555,NA18956,NA19129 esv2431994 4 91815046 91823100 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361777 S 1 0 1 FAM190A NA18507 nsv435805 4 91815079 91823283 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466130 S 2 0 1 FAM190A NA15510 esv2631037 4 91815224 91822551 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392424 S 1 0 1 FAM190A NA18507 dgv126e180 4 91815628 91822475 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991351,esv1005904 M 3 0 1 FAM190A HuRef nsv461581 4 91815757 91866069 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537956 S 1557 0 1 FAM190A 1780854464_A nsv513148 4 91815763 91822862 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626642 S 1 0 1 FAM190A 1 esv8056 4 91815791 91821962 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30497 S 1 0 1 FAM190A SJK esv3475 4 91815797 91822002 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25916 S 1 0 1 Single Asian sample YH FAM190A YH dgv46n47 4 91815808 91821945 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499052,nsv499053 M 9 0 2 FAM190A esv1218510 4 91815821 91821944 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733656 S 2 0 1 FAM190A HuRef nsv508298 4 91817046 91823907 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617494 S 4 0 1 FAM190A CHM nsv4420 4 91835330 91880819 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7106 S 9 0 1 FAM190A NA12156 dgv5645n71 4 91910336 91950909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879554,nsv879552 M 6533 0 2 FAM190A MS18978,SP56004 nsv879553 4 91910336 92087599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591665 S 6533 0 1 FAM190A IS39011 nsv879555 4 91962561 92186625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502764 S 6533 0 1 FAM190A SP51411 nsv4422 4 91963200 92008211 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7979 S 9 0 1 FAM190A NA12156 nsv518069 4 92008094 92013844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695483 S 2026 0 1 FAM190A nsv10533 4 92061799 92155015 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14310,nssv13221,nssv13362,nssv11916 M 31 3 1 Samples from several populations that are part of the HapMap project. FAM190A NA10863,NA18502,NA18860,NA19221 nsv521606 4 92066819 92075331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698223 S 2026 0 1 FAM190A esv23173 4 92104565 92118595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20409 S 451 0 1 FAM190A NA19147 nsv818251 4 92107906 92117088 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416635,nssv1416636 M 112 0 2 FAM190A NA19116,NA19120 nsv516428 4 92107906 92121643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678872,nssv668316,nssv682301,nssv683788,nssv661233,nssv687334,nssv657325,nssv689024,nssv686209 M 2026 0 9 FAM190A dgv5646n71 4 92108492 92173128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879556,nsv879557 M 6533 0 2 FAM190A IS35083,IS39450 nsv4423 4 92128022 92172063 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7980,nssv2475 M 9 0 2 FAM190A NA12156,NA18555 nsv461582 4 92129906 92144807 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537957 S 1557 0 1 FAM190A 1780854576_A dgv5647n71 4 92130766 92168022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879560,nsv879558 M 6533 0 3 FAM190A IS32365,IS39784,MS13292 nsv437404 4 92133438 92160052 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467285 S 60 0 1 Samples from several populations that are part of the HapMap project. FAM190A NA19094 nsv879559 4 92137893 92371701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582510 S 6533 0 1 FAM190A IS35974 dgv95n17 4 92145672 92160052 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436956,nsv436955,nsv436957 M 60 0 3 FAM190A NA07029,NA12801,NA12865 esv28052 4 92150575 92154871 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18910 S 451 27 5 FAM190A NA07037,NA07045,NA11931,NA11993,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820701 4 92150575 92154871 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420428 S 1 0 1 FAM190A NA10851 nsv822643 4 92150575 92154871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424153,nssv1425697,nssv1426600,nssv1422552,nssv1436555,nssv1431265,nssv1425430,nssv1428222,nssv1438102,nssv1426606,nssv1423344,nssv1438770,nssv1434367 M 31 0 13 FAM190A AK10,AK18,AK4,AK6,NA18542,NA18552,NA18570,NA18582,NA18592,NA18951,NA18968,NA18973,NA18999 nsv499054 4 92150579 92154861 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585915 S 9 0 1 FAM190A esv5047 4 92152076 92155118 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27488 S 1 0 1 Single Asian sample YH FAM190A YH nsv437925 4 92152587 92153722 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468520,nssv468521,nssv468504,nssv468524,nssv468510,nssv468503,nssv468515,nssv468512,nssv468513,nssv468501,nssv468511,nssv468522,nssv468502,nssv468525,nssv468526,nssv468509,nssv468505,nssv468517,nssv468506,nssv468516,nssv468523,nssv468514,nssv468508 M 269 0 23 Samples from several populations that are part of the HapMap project. FAM190A NA07000,NA07029,NA07056,NA07345,NA07348,NA10839,NA10856,NA10863,NA11832,NA11992,NA12004,NA12006,NA12057,NA12146,NA12154,NA12156,NA12264,NA12762,NA12801,NA12802,NA12812,NA12865,NA12875 nsv822644 4 92153964 92154815 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424925,nssv1427438 M 31 0 2 FAM190A AK2,AK8 nsv822645 4 92153964 92154897 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425892 S 31 1 0 FAM190A NA18947 nsv514231 4 92154160 92154896 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627672 S 1414 0 1 FAM190A esv33457 4 92154224 92154703 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97013,essv93651 M 51 0 2 FAM190A 21817,21972 dgv1652e1 4 92165687 92365137 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv89,essv5937 M 271 0 0 FAM190A NA18550 esv33772 4 92168814 92168935 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100890 S 51 0 1 FAM190A 21656 nsv4424 4 92176613 92196430 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7107,nssv10414,nssv399 M 9 3 0 FAM190A NA12156,NA18956,NA19240 nsv509010 4 92177892 92211986 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620792,nssv619378,nssv623414,nssv618026 M 4 4 0 FAM190A CHM,NA10860,NA15510,NA18994 nsv10534 4 92185623 92228205 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13251,nssv14340,nssv12691,nssv12265,nssv12579 M 31 0 5 Samples from several populations that are part of the HapMap project. FAM190A NA12740,NA18860,NA18980,NA19221,NA19240 nsv4425 4 92201908 92207650 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3132 S 9 1 0 FAM190A NA18555 nsv528519 4 92224426 92236523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705129 S 2026 0 1 FAM190A nsv879561 4 92224426 92280771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539450,nssv1546349 M 6533 0 2 FAM190A MS14334,MS17158 dgv5648n71 4 92242343 92333304 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879563,nsv879562 M 6533 0 3 FAM190A MS15199,MS24600,SP52902 nsv879564 4 92252278 92403103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579273 S 6533 0 1 FAM190A IS35083 nsv10535 4 92276502 92280350 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12295 S 31 0 1 Samples from several populations that are part of the HapMap project. FAM190A NA18980 nsv4426 4 92330876 92363080 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10415 S 9 1 0 FAM190A NA18956 nsv879565 4 92361989 92470862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499812 S 6533 0 1 FAM190A SP50110 nsv10536 4 92374554 92381873 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13497 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM190A NA19132 esv1010919 4 92376242 92381351 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565215 S 3 0 1 FAM190A HuRef nsv513149 4 92379026 92382376 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626644 S 1 0 1 FAM190A 1 esv24612 4 92379345 92381464 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14972 S 451 7 0 FAM190A NA06985,NA11894,NA12239,NA12749,NA18511,NA18517,NA19099 nsv820535 4 92379345 92381464 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420429 S 1 0 1 FAM190A NA10851 esv1430964 4 92380266 92381517 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690420 S 2 0 1 FAM190A HuRef nsv4427 4 92394757 92427258 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10416 S 9 1 0 FAM190A NA18956 nsv879566 4 92434989 92541356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597088 S 6533 0 1 FAM190A IS40730 dgv5649n71 4 92434989 92648984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879567,nsv879568 M 6533 0 2 FAM190A IS41043,MS17114 dgv323n21 4 92460610 92512505 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv529020,nsv522208 M 2026 0 2 FAM190A esv271506 4 92489936 92490093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494286,essv2504096,essv2502964,essv2509689,essv2496467,essv2494871,essv2508940,essv2506301,essv2508763,essv2500923,essv2494038,essv2501379,essv2507024,essv2506442,essv2498843,essv2497648,essv2510427,essv2493898,essv2501833,essv2498256 M 157 20 0 Samples from several populations that are part of the HapMap project. FAM190A NA18502,NA18505,NA18507,NA18508,NA18510,NA18520,NA18522,NA18523,NA18532,NA18856,NA18871,NA19093,NA19102,NA19108,NA19138,NA19147,NA19172,NA19210,NA19239,NA19240 esv273807 4 92489948 92490184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584576,essv2583649 M 7 2 0 Samples from several populations that are part of the HapMap project. FAM190A NA19239,NA19240 nsv515874 4 92499956 92502794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684786,nssv668736,nssv665918,nssv666377,nssv655916,nssv652231,nssv659927,nssv687825,nssv660291,nssv683568,nssv676559,nssv663974,nssv688494,nssv665715,nssv688404,nssv687014,nssv671420,nssv670542,nssv652727,nssv667508,nssv679567,nssv676328,nssv664112,nssv651681,nssv678355,nssv685672,nssv683933,nssv686089,nssv679930,nssv660497,nssv687483,nssv672793,nssv673385,nssv672005,nssv658075,nssv662389,nssv658917,nssv661860,nssv671833,nssv665236,nssv673761,nssv652826,nssv688595 M 2026 0 43 FAM190A nsv818252 4 92499956 92502794 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418364,nssv1418363 M 112 0 2 FAM190A NA10847,NA12146 nsv461584 4 92499956 92563243 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537959 S 1557 0 1 FAM190A NINDS_184 nsv523397 4 92500442 92505628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699148 S 2026 0 1 FAM190A nsv879569 4 92500442 92571521 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577764,nssv1567302 M 6533 1 1 FAM190A IS31067,IS34555 nsv879570 4 92500442 92587369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566267 S 6533 0 1 FAM190A IS30635 dgv5650n71 4 92500442 92739442 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879572,nsv879573,nsv879571,nsv879575 M 6533 0 4 FAM190A IS31145,IS31285,IS35083,IS41224 nsv518645 4 92505628 92641279 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696094 S 2026 1 0 FAM190A nsv879574 4 92523247 92648984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567120 S 6533 0 1 FAM190A IS31045 nsv879576 4 92575141 92870133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533913 S 6533 0 1 FAM190A MS11332 esv2422533 4 92590976 92592480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191066 S 1 0 1 FAM190A NA18507 nsv879577 4 92592350 92648984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515397 S 6533 0 1 FAM190A SP56185 dgv5651n71 4 92592350 92715486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879582,nsv879581,nsv879578 M 6533 0 3 FAM190A IS31706,IS35229,IS41113 dgv5652n71 4 92592350 92770088 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879583,nsv879580,nsv879579 M 6533 0 3 FAM190A IS31044,MS10737,SP54030 nsv879584 4 92634552 92715486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566736 S 6533 0 1 FAM190A IS30899 dgv5653n71 4 92634552 92758890 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879586,nsv879585,nsv879587 M 6533 0 3 FAM190A IS39788,MS12827,MS18847 dgv324n21 4 92639194 92641279 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520157,nsv526217 M 2026 0 2 FAM190A nsv461586 4 92648984 92702829 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537960 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM190A HGDP00926 nsv4428 4 92677569 92680190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7981 S 9 1 0 FAM190A NA12156 nsv293289 4 92691864 92694278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311867 M 24 FAM190A nsv514232 4 92692320 92697232 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627673 S 1414 0 1 FAM190A esv2422180 4 92692337 92697344 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5060700,essv5129916,essv5144489,essv5092661,essv5013935,essv5134546,essv5061704,essv5032779,essv5128472,essv5125563,essv5038866,essv5064260,essv5070671,essv5010257,essv5074752,essv5089046,essv5093023,essv5022226,essv5053446 M 1184 0 19 FAM190A NA18857,NA18873,NA18934,NA18935,NA19176,NA19178,NA19180,NA19319,NA19328,NA19428,NA19455,NA19474,NA20357,NA20812,NA21086,NA21441,NA21442,NA21685,NA21716 nsv441899 4 92692337 92697344 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM190A nsv509912 4 92768580 92774580 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623949 S 4 0 1 "" NA18994 nsv4429 4 92787951 92822618 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv400 S 9 1 0 "" NA19240 dgv5654n71 4 92822038 92910662 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879589,nsv879588,nsv879590 M 6533 0 4 "" IS30899,IS35083,IS36527,IS38148 nsv470054 4 92842087 92898379 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546339 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00697 nsv879591 4 92870133 92910662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569450 S 6533 0 1 "" IS31581 nsv523604 4 92870133 92915737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699397 S 2026 0 1 "" nsv879592 4 92870133 92915737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577624 S 6533 1 0 "" IS34508 nsv508299 4 92870464 92942352 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618747 S 4 0 1 "" NA10860 nsv509913 4 92880723 92886723 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623950,nssv618174 M 4 0 2 "" CHM,NA18994 nsv879593 4 92883724 92910662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567559 S 6533 0 1 "" IS31118 nsv292895 4 92906239 92906239 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311473 M 24 "" nsv4430 4 92916638 92948547 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4766 S 9 1 0 "" NA19129 esv268903 4 92923635 92923950 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512495,essv2510681,essv2493807,essv2507442,essv2499077 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18517,NA18912,NA19114 nsv879594 4 92925574 94754827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548092 S 6533 1 0 GRID2 MS17696 nsv470056 4 93056607 93542000 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546340 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRID2 HGDP00591 nsv461587 4 93056607 93595254 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537961 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRID2 HGDP00591 nsv519845 4 93099147 93102545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682663,nssv659000 M 2026 0 2 "" nsv879595 4 93102545 93159734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499915 S 6533 0 1 "" SP50137 nsv879596 4 93102880 93191536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505562 S 6533 0 1 "" SP53687 nsv292385 4 93104246 93104316 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310963 M 24 "" nsv293519 4 93124986 93124986 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312097 M 24 "" nsv516164 4 93125815 93149947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663082,nssv671788,nssv666565 M 2026 0 3 "" dgv5655n71 4 93125815 93281184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879599,nsv879597,nsv879598,nsv879600 M 6533 0 6 "" MS13098,SP52349,SP52386,SP52689,SP54367,SP57188 nsv879601 4 93138092 93355820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577625 S 6533 1 0 "" IS34508 nsv879602 4 93149947 93380874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599624 S 6533 0 1 "" IS41737 esv27591 4 93165797 93186015 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17057 S 451 1 0 "" NA15510 dgv5656n71 4 93272051 93506767 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879604,nsv879603 M 6533 2 0 GRID2 MS19698,MS23098 esv270778 4 93295102 93295431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521221,essv2550158,essv2558926,essv2562913,essv2541340,essv2524380,essv2534759,essv2539837,essv2566019,essv2531012,essv2541625,essv2553343,essv2543792,essv2567125,essv2566402,essv2556069,essv2543355,essv2572807,essv2549629,essv2551623 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA18511,NA18516,NA18532,NA18545,NA18555,NA18561,NA18563,NA18572,NA18573,NA18592,NA18605,NA18870,NA18947,NA18948,NA18956,NA18965,NA19143,NA19225,NA19257 nsv830007 4 93320935 93536679 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443814 S 95 1 0 GRID2 esv269094 4 93347855 93347978 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509143 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18909 esv6760 4 93437693 93437757 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29201 S 1 1 0 "" SJK nsv513150 4 93577814 93580585 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626645 S 1 0 1 GRID2 1 nsv879605 4 93595254 93959432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579276 S 6533 0 1 GRID2 IS35083 nsv879606 4 93610274 93698298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562911 S 6533 0 1 GRID2 MS25771 esv2385359 4 93611910 93612610 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507773 S 1 0 1 GRID2 NA18507 esv1428298 4 93612101 93612421 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086483 S 2 0 1 GRID2 HuRef nsv291186 4 93612102 93612421 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309764 M 24 GRID2 nsv441900 4 93631395 93637602 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GRID2 nsv879607 4 93653895 93734189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568856 S 6533 0 1 GRID2 IS31369 dgv5657n71 4 93699740 93831926 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879609,nsv879608 M 6533 0 3 GRID2 IS30537,IS31046,IS31205 nsv818253 4 93719015 93734189 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418144 S 112 0 1 GRID2 NA19143 nsv830008 4 93729980 93904958 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443816,nssv1443815,nssv1443817,nssv1443820,nssv1443819 M 95 5 0 GRID2 nsv879610 4 93761791 93865524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590119 S 6533 0 1 GRID2 IS38463 esv989581 4 93782707 93783517 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565129 S 3 1 0 GRID2 HuRef esv25695 4 93786416 93789289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10640,esv21311 M 451 0 5 GRID2 NA18508,NA18523,NA18861,NA18916,NA19190 dgv884n67 4 93786653 93789153 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822646,nsv822647 M 31 2 0 GRID2 AK18,NA18968 esv2583140 4 93787272 93789920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219171 S 1 0 1 GRID2 NA18507 nsv513151 4 93787409 93790967 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626646 S 1 0 1 GRID2 1 esv998960 4 93789200 93789999 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564653 S 3 1 0 GRID2 HuRef dgv5658n71 4 93926311 94206274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879612,nsv879611 M 6533 0 2 GRID2 IS35633,IS40954 esv1005959 4 94019243 94023015 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564718 S 3 0 1 GRID2 HuRef nsv879613 4 94019628 94121905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508149,nssv1514417 M 6533 0 2 GRID2 SP54579,SP56004 nsv511270 4 94068635 94091929 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624899 S 1 1 0 GRID2 1 nsv822648 4 94074164 94078781 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435821 S 31 0 1 GRID2 NA18566 nsv820106 4 94075236 94081801 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419784 S 2 0 1 GRID2 AK1 dgv885n67 4 94076038 94078781 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822652,nsv822651,nsv822649,nsv822650 M 31 0 15 GRID2 AK12,AK14,AK18,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18564,NA18570,NA18949,NA18968,NA18973,NA18999 nsv821607 4 94076038 94078781 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420430 S 1 0 1 GRID2 NA10851 esv33364 4 94076267 94078577 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100784,essv97149,essv100086 M 51 3 0 GRID2 21656,22075,22086 esv24403 4 94076386 94078623 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18321 S 451 0 3 GRID2 NA06985,NA11931,NA15510 nsv879614 4 94088587 94208915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551675,nssv1520172 M 6533 0 2 GRID2 MS18976,SP50721 nsv822654 4 94118512 94128832 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426602 S 31 0 1 GRID2 AK6 esv9473 4 94118528 94128863 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31914 S 1 0 1 GRID2 SJK esv2592799 4 94255299 94255581 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283540 S 1 0 1 GRID2 NA18507 nsv461588 4 94268607 94325195 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537962 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRID2 HGDP00670 nsv818254 4 94268607 94325195 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416149 S 112 1 0 GRID2 NA12892 nsv879615 4 94319433 94399590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542291 S 6533 0 1 GRID2 MS15749 nsv509914 4 94363424 94369424 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622058 S 4 0 1 GRID2 NA10860 esv2351099 4 94384562 94385022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712531 S 1 0 1 GRID2 NA18507 nsv292478 4 94384664 94384804 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311056 M 24 GRID2 esv1009225 4 94384676 94384816 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579619 S 3 0 1 GRID2 HuRef esv1107786 4 94384692 94384833 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020401 S 2 0 1 GRID2 HuRef nsv879616 4 94409644 94508279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552538,nssv1547296,nssv1535653,nssv1543249,nssv1555941,nssv1556035,nssv1563466 M 6533 7 0 GRID2 MS12353,MS16122,MS17305,MS19487,MS21717,MS21758,MS26033 nsv830009 4 94657774 94851679 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443833,nssv1443823,nssv1443844,nssv1443822,nssv1443821,nssv1443824,nssv1443832,nssv1443831,nssv1443828,nssv1443827,nssv1443825,nssv1443826,nssv1443830,nssv1443835,nssv1443839,nssv1443843,nssv1443836,nssv1443837,nssv1443838,nssv1443842,nssv1443841,nssv1443847,nssv1443853,nssv1443846,nssv1443845,nssv1443850,nssv1443848,nssv1443849,nssv1443854,nssv1443856,nssv1443855,nssv1443834,nssv1443859,nssv1443858,nssv1443857,nssv1443861,nssv1443860 M 95 37 0 GRID2 esv1916438 4 94657931 94658367 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693218 S 1 0 1 GRID2 NA18507 esv1009689 4 94658104 94658199 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566451 S 3 0 1 GRID2 HuRef dgv159n6 4 94658105 94658213 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291137,nsv291544 M 24 GRID2 esv1115049 4 94658117 94658213 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215977 S 2 0 1 GRID2 HuRef nsv292897 4 94658142 94658213 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311475 M 24 GRID2 nsv821636 4 94658659 95335613 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421366,nssv1421368,nssv1421375,nssv1421367,nssv1421373,nssv1421376,nssv1421371,nssv1421378,nssv1421370,nssv1421369,nssv1421377,nssv1421379,nssv1421380,nssv1421372 M 31 14 0 ATOH1,GRID2 nsv436959 4 94754920 94759989 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466840 S 60 0 1 Samples from several populations that are part of the HapMap project. GRID2 NA10846 nsv437927 4 94755427 94756177 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468527,nssv468528 M 269 0 2 Samples from several populations that are part of the HapMap project. GRID2 NA10846,NA12145 nsv4431 4 94766420 94785785 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv401 S 9 0 1 GRID2 NA19240 esv995204 4 94775818 94785637 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563495 S 3 0 1 GRID2 HuRef nsv436409 4 94778153 94786158 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466131 S 2 0 1 Samples from several populations that are part of the HapMap project. GRID2 NA18505 nsv513152 4 94778439 94784750 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626647 S 1 0 1 GRID2 1 nsv499055 4 94778462 94784529 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585916 S 9 0 1 GRID2 esv1585596 4 94778477 94784528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015401 S 2 0 1 GRID2 HuRef nsv4433 4 94811909 94823826 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4767 S 9 0 1 GRID2 NA19129 nsv290335 4 95004760 95010796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308913 M 24 "" nsv830010 4 95049262 95248426 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443862 S 95 1 0 "" nsv509915 4 95154965 95160965 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622059 S 4 0 1 "" NA10860 nsv879617 4 95199791 95274844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566802 S 6533 0 1 "" IS30925 nsv879618 4 95199791 95355187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550803 S 6533 0 1 SMARCAD1 MS18620 nsv879619 4 95200501 95236265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514506 S 6533 0 1 "" SP56007 esv2609719 4 95218243 95219745 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302307 S 1 0 1 "" NA18507 nsv879620 4 95231707 95268146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513037 S 6533 0 1 "" SP55671 nsv879621 4 95265930 95318217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528654 S 6533 0 1 "" SP81339 nsv507182 4 95361337 95367337 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622897,nssv620255 M 4 2 0 SMARCAD1 NA15510,NA18994 nsv819645 4 95376278 95376751 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418968 S 2 1 0 SMARCAD1 AK1 nsv292335 4 95416082 95422380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310913 M 24 SMARCAD1 nsv519228 4 95496334 95511725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696719 S 2026 0 1 "" esv274400 4 95594355 95594690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580556 S 7 1 0 Samples from several populations that are part of the HapMap project. PDLIM5 NA19238 esv270916 4 95632261 95632621 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502307,essv2495322,essv2510344,essv2512529,essv2496734,essv2494211,essv2504154,essv2501077,essv2494971,essv2506200,essv2497134,essv2507602,essv2501042,essv2498610,essv2505797,essv2493930,essv2509326,essv2495713,essv2496008,essv2505602,essv2501284,essv2504749,essv2506826,essv2506684,essv2499060,essv2509426,essv2498889,essv2497732,essv2496907,essv2493852,essv2512027,essv2501954,essv2498074,essv2502208,essv2503577,essv2495050 M 157 36 0 Samples from several populations that are part of the HapMap project. PDLIM5 NA06986,NA07051,NA12004,NA12287,NA12414,NA18489,NA18498,NA18502,NA18505,NA18516,NA18520,NA18523,NA18552,NA18576,NA18856,NA18858,NA18861,NA18871,NA18909,NA18916,NA18961,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv273051 4 95632264 95632610 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580672,essv2579705 M 7 2 0 Samples from several populations that are part of the HapMap project. PDLIM5 NA19238,NA19240 esv2492606 4 95717029 95718629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239007 S 1 0 1 PDLIM5 NA18507 esv2304226 4 95717802 95718513 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499118 S 1 0 1 PDLIM5 NA18507 esv4831 4 95717948 95718416 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27272 S 1 0 1 Single Asian sample YH PDLIM5 YH esv2451649 4 95717986 95718301 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260477 S 1 0 1 PDLIM5 NA18507 esv6075 4 95717986 95718313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28516 S 1 0 1 PDLIM5 SJK esv991897 4 95717989 95718304 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584162 S 3 0 1 PDLIM5 HuRef esv1135092 4 95717997 95718313 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224999 S 2 0 1 PDLIM5 HuRef esv28120 4 95856821 95857695 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15408 S 451 0 2 "" NA18861,NA19257 esv25254 4 95897956 95898966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12742 S 451 0 1 BMPR1B NA07045 nsv518579 4 95925360 95974567 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696023 S 2026 1 0 BMPR1B esv270403 4 95961721 95961806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518093 S 157 1 0 Samples from several populations that are part of the HapMap project. BMPR1B NA12872 esv2517956 4 96000294 96001674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171093 S 1 0 1 BMPR1B NA18507 esv2294326 4 96000808 96001334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993992 S 1 0 1 BMPR1B NA18507 esv2195551 4 96089301 96089888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508176 S 1 0 1 BMPR1B NA18507 nsv879622 4 96137003 96203402 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580409 S 6533 1 0 BMPR1B IS35297 nsv830011 4 96166583 96322957 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443864 S 95 1 0 BMPR1B,UNC5C esv1489767 4 96336936 96336936 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312533 S 2 1 0 UNC5C HuRef esv1617018 4 96336960 96336960 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610963 S 2 1 0 UNC5C HuRef esv1143724 4 96337050 96337050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256630 S 2 1 0 UNC5C HuRef nsv879623 4 96342489 96387742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534560 S 6533 0 1 UNC5C MS11669 dgv5659n71 4 96366883 96408836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879625,nsv879624 M 6533 0 2 UNC5C IS31837,IS34896 nsv519986 4 96378700 96378840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690661,nssv687704,nssv659944 M 2026 0 3 UNC5C nsv822655 4 96379890 96380568 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422554 S 31 1 0 UNC5C NA18552 nsv471768 4 96465523 96466618 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646049 M 0.021 95 UNC5C esv27157 4 96465550 96466565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20571 S 451 0 1 UNC5C NA12004 esv25475 4 96523037 96523600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12230 S 451 0 1 UNC5C NA18508 nsv879626 4 96567001 96607674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538081 S 6533 0 1 UNC5C MS13480 nsv523039 4 96580176 96620670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698722 S 2026 0 1 UNC5C esv2577861 4 96601041 96602533 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295998 S 1 0 1 UNC5C NA18507 esv2041389 4 96601290 96601861 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703413 S 1 0 1 UNC5C NA18507 esv2808 4 96601448 96601821 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25249 S 1 0 1 Single Asian sample YH UNC5C YH esv1001867 4 96601477 96601682 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570013 S 3 0 1 UNC5C HuRef esv1227332 4 96601477 96601683 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875214 S 2 0 1 UNC5C HuRef nsv879627 4 96607674 96643946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588539 S 6533 1 0 UNC5C IS38211 nsv521417 4 96660579 96667710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698027 S 2026 0 1 UNC5C nsv525953 4 96675573 96680437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702160 S 2026 0 1 UNC5C nsv527705 4 96677875 96680437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704184 S 2026 0 1 UNC5C esv2648717 4 96746366 96748945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368886 S 1 0 1 "" NA18507 esv2404517 4 96747254 96748902 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833632 S 1 0 1 "" NA18507 nsv830012 4 96766806 96965186 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443865 S 95 1 0 "" esv21724 4 96920160 96927252 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11786 S 451 0 1 "" NA19108 nsv437405 4 96953442 96966126 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467286 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv879628 4 96958274 96997522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524724 S 6533 0 1 PDHA2 SP55183 nsv879629 4 96966158 97037286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531543 S 6533 0 1 PDHA2 MS10544 esv267969 4 96972074 96972398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495331,essv2512485,essv2496775,essv2504117,essv2496404,essv2493755,essv2494669,essv2506088,essv2505221,essv2500886,essv2498430,essv2493926,essv2509308,essv2507322,essv2502742,essv2501246,essv2504653 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA18489,NA18498,NA18505,NA18510,NA18517,NA18519,NA18523,NA18853,NA18856,NA18858,NA18871,NA18909,NA18912,NA18965,NA19093,NA19099 nsv10537 4 96976594 97175317 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12328 S 31 0 1 Samples from several populations that are part of the HapMap project. PDHA2 NA19144 nsv527846 4 97013050 97014809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704344 S 2026 0 1 "" nsv516204 4 97027296 97027636 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671134,nssv666797 M 2026 0 2 "" nsv818255 4 97027296 97029270 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415948,nssv1415949 M 112 1 1 "" NA12750,NA12751 nsv879630 4 97180914 97266852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564526 S 6533 0 1 "" IS30228 nsv830013 4 97252148 97423314 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443866 S 95 1 0 "" esv6736 4 97321610 97321713 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29177 S 1 1 0 "" SJK nsv470057 4 97323903 97530680 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546341 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00908 nsv461589 4 97323904 97530680 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537963 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00908 dgv5660n71 4 97333729 97527937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879633,nsv879632,nsv879631 M 6533 0 3 "" IS31228,IS38294,MS22756 nsv461590 4 97416059 97485083 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537964 S 1557 0 1 "" NINDS_222 esv2643179 4 97432635 97434197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182842 S 1 0 1 "" NA18507 nsv292055 4 97433292 97433349 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310633 M 24 "" nsv292864 4 97433468 97433699 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311442 M 24 "" nsv293037 4 97433642 97433699 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311615 M 24 "" esv268490 4 97450779 97451032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494213,essv2496415,essv2496262 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18511 esv27549 4 97538291 97544709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10498 S 451 0 1 "" NA18508 nsv514233 4 97538776 97541304 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627674 S 1414 0 1 "" esv2421595 4 97539253 97541426 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158986,essv5135348,essv5011601,essv5007736,essv5082474,essv5059157,essv5118559,essv5029766,essv5099209,essv5155162,essv5003900,essv5011421,essv5070447,essv5053049,essv5146601,essv5038949,essv5120481,essv5010735,essv5006085,essv5090004,essv5077227,essv5026641,essv5083606,essv5037370,essv5138434,essv5087193,essv5004629,essv5158789,essv5014687,essv5040659,essv5120248,essv5125589,essv5148575,essv5105084 M 1184 0 34 "" NA18506,NA18508,NA18862,NA18863,NA18924,NA19209,NA19211,NA19226,NA19380,NA19445,NA19834,NA19836,NA20302,NA20322,NA20341,NA20357,NA20358,NA20582,NA21308,NA21309,NA21336,NA21381,NA21383,NA21451,NA21478,NA21488,NA21490,NA21512,NA21514,NA21517,NA21616,NA21619,NA21717,NA21722 nsv441901 4 97539253 97541426 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv879634 4 97590404 97946136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599013 S 6533 0 1 "" IS41113 nsv879635 4 97608113 97810108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568925 S 6533 0 1 "" IS31373 nsv509011 4 97611621 97648807 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623415,nssv620793 M 4 2 0 "" NA15510,NA18994 esv2456143 4 97631022 97632508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391609 S 1 0 1 "" NA18507 nsv507183 4 97638211 97644211 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617638 S 4 1 0 "" CHM esv5317 4 97644854 97645108 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27758 S 1 0 1 Single Asian sample YH "" YH dgv1653e1 4 97728589 98028115 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv52,essv1934 M 271 0 0 "" NA18959 esv2452858 4 97750511 97752031 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249240 S 1 0 1 "" NA18507 dgv5661n71 4 97782241 97904319 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879636,nsv879637,nsv879639 M 6533 0 3 "" IS30171,IS36640,IS41317 nsv879638 4 97787265 97850404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550804 S 6533 0 1 "" MS18620 esv2641834 4 97790497 97792250 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170324 S 1 0 1 "" NA18507 esv2225879 4 97790928 97791650 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805841 S 1 0 1 "" NA18507 esv3141 4 97791074 97791600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25582 S 1 0 1 Single Asian sample YH "" YH esv1006758 4 97791125 97791443 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584904 S 3 0 1 "" HuRef esv1673500 4 97791137 97791456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887181 S 2 0 1 "" HuRef nsv291994 4 97791138 97791456 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310572 M 24 "" esv6071 4 97791143 97791471 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28512 S 1 0 1 "" SJK nsv470058 4 97810108 97881460 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546343 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00351 nsv470059 4 97846762 97892204 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546344 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv10538 4 97923885 97925643 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12358 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv879640 4 97930730 98916609 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599307 S 6533 1 0 C4orf37 IS41565 esv23713 4 97940725 97941325 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18104 S 451 0 2 "" NA11894,NA18502 esv2396776 4 97941888 97942324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771258 S 1 0 1 "" NA18507 nsv436794 4 97946893 97947071 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466132 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv29442 4 97948146 97955649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19994 S 451 0 1 "" NA12776 esv998729 4 98022939 98023079 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565047 S 3 1 0 "" HuRef nsv524811 4 98030322 98030375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700804 S 2026 0 1 "" nsv524219 4 98030322 98054579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700107 S 2026 0 1 "" nsv4434 4 98115270 98147518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7108 S 9 1 0 "" NA12156 esv2482520 4 98115620 98117048 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253104 S 1 0 1 "" NA18507 esv2404276 4 98116030 98116760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818305 S 1 0 1 "" NA18507 esv7411 4 98116149 98116618 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29852 S 1 0 1 "" SJK nsv290633 4 98116218 98116553 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309211 M 24 "" nsv293123 4 98194637 98199877 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311701 M 24 "" esv271868 4 98218178 98218484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501409,essv2499035 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19114 nsv4435 4 98291980 98346957 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4768,nssv7109 M 9 2 0 "" NA12156,NA19129 esv2653918 4 98329229 98330741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216463 S 1 0 1 "" NA18507 esv2287575 4 98329489 98330203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507619 S 1 0 1 "" NA18507 esv8786 4 98329661 98329988 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31227 S 1 0 1 "" SJK nsv289695 4 98329668 98329993 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308273 M 24 "" esv2480456 4 98351910 98353307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241475 S 1 0 1 "" NA18507 esv1984913 4 98352213 98352905 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920825 S 1 0 1 "" NA18507 nsv291115 4 98352399 98352712 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309693 M 24 "" esv8127 4 98352417 98352714 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30568 S 1 0 1 "" SJK dgv886n67 4 98391289 98406361 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822658,nsv822657,nsv822659,nsv822656 M 31 0 4 "" AK6,NA18542,NA18564,NA18582 esv2421442 4 98391437 98404155 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027611,essv5025702,essv5073826,essv5007435,essv5148055,essv5135203,essv5145307,essv5057369,essv5160450,essv5012303,essv5089826,essv5096224,essv5050125,essv5027531,essv5137408,essv5097689,essv5052803,essv5064156,essv5101496,essv5136611,essv5077405,essv5038318,essv5120491,essv5015739,essv5120298,essv5154647,essv5104715,essv5106945,essv5020480,essv5004229,essv5128289,essv5140871,essv5059747,essv5067928,essv5136751,essv5137584,essv5025379,essv5153470,essv5030221,essv5133576,essv5022753,essv5050476,essv5109593,essv5082039,essv5112002,essv5138385,essv5135098,essv5003867,essv5135154 M 1184 0 49 "" NA17969,NA17987,NA17990,NA17999,NA18108,NA18114,NA18120,NA18127,NA18128,NA18132,NA18135,NA18140,NA18141,NA18149,NA18151,NA18154,NA18162,NA18542,NA18543,NA18548,NA18559,NA18562,NA18564,NA18582,NA18602,NA18603,NA18605,NA18612,NA18617,NA18619,NA18623,NA18631,NA18674,NA18696,NA18940,NA18948,NA18959,NA18974,NA18979,NA18993,NA18998,NA19055,NA19056,NA19062,NA19064,NA19079,NA19084,NA19086,NA19088 nsv442913 4 98391437 98404155 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514234 4 98392960 98402568 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627675 S 1414 0 1 "" esv2364710 4 98400081 98400803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687121 S 1 0 1 "" NA18507 esv8911 4 98400302 98400696 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31352 S 1 0 1 "" SJK nsv830014 4 98439282 98638658 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443867 S 95 0 1 "" nsv879641 4 98536318 98725817 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599574 S 6533 1 0 C4orf37 IS41687 nsv879642 4 98536318 98788282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522089,nssv1551299 M 6533 0 2 C4orf37 MS18847,SP52723 nsv879643 4 98536318 99284503 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544568 S 6533 1 0 C4orf37 MS16385 dgv5662n71 4 98552941 98725817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879644,nsv879645 M 6533 0 3 C4orf37 IS35181,IS35229,SP54579 nsv820976 4 98572950 98579052 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420431 S 1 0 1 "" NA10851 nsv822660 4 98572950 98579052 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429748,nssv1436558,nssv1439430,nssv1440302 M 31 0 4 "" AK14,NA18542,NA18547,NA18564 esv29651 4 98573121 98577671 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9997,esv15581 M 451 31 2 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv436427 4 98573174 98578215 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466133 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv6130 4 98573290 98578232 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28571 S 1 0 1 "" SJK nsv819123 4 98573892 98579082 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419690 S 2 1 0 "" AK1 dgv887n67 4 98574519 98577185 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822662,nsv822661 M 31 0 2 "" AK20,AK6 esv33388 4 98574748 98576965 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97170,essv99883,essv98431 M 51 0 3 "" 22075,22086,22352 nsv830016 4 98579930 98769774 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443868 S 95 0 1 C4orf37 dgv5663n71 4 98605654 98788282 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879646,nsv879647 M 6533 0 2 C4orf37 IS33864,MS21252 esv2550392 4 98643063 98644769 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266557 S 1 0 1 "" NA18507 nsv292020 4 98643928 98644039 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310598 M 24 "" esv1304208 4 98644081 98644193 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646171 S 2 0 1 "" HuRef nsv290890 4 98689188 98689188 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309468 M 24 "" nsv291303 4 98689193 98689193 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309881 M 24 "" nsv879648 4 98766740 99323902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588781 S 6533 1 0 C4orf37 IS38242 esv1928542 4 98809495 98810190 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717299 S 1 0 1 C4orf37 NA18507 esv2483371 4 98809546 98811230 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275467 S 1 0 1 C4orf37 NA18507 esv2779 4 98809608 98810069 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25220 S 1 0 1 Single Asian sample YH C4orf37 YH esv6016 4 98809678 98810045 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28457 S 1 0 1 C4orf37 SJK nsv470060 4 98817016 98967321 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546345,nssv546347,nssv546346 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C4orf37 HGDP01038,HGDP01049,HGDP01050 dgv662n27 4 98817016 98984370 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461591,nsv461592,nsv461593 M 1557 3 0 C4orf37 HGDP01043,HGDP01050,HGDP01058 nsv879649 4 98871623 99092690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551300 S 6533 0 1 C4orf37 MS18847 esv22630 4 99060678 99275910 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11264,esv12033 M 451 4 0 C4orf37 NA11931,NA12878,NA18505,NA18909 nsv830017 4 99085322 99266800 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443869 S 95 0 1 C4orf37 dgv325n21 4 99092690 99284503 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528390,nsv522741 M 2026 0 2 C4orf37 nsv292701 4 99179583 99179583 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311279 M 24 C4orf37 nsv4436 4 99179880 99225857 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7110 S 9 0 1 C4orf37 NA12156 nsv509916 4 99184960 99190960 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618175 S 4 0 1 C4orf37 CHM esv1754729 4 99186164 99186164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705504 S 2 1 0 C4orf37 HuRef nsv822663 4 99215946 99216647 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425904 S 31 1 0 C4orf37 NA18947 nsv822665 4 99219972 99220444 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430531 S 31 1 0 C4orf37 AK16 nsv879650 4 99276480 99391255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529094,nssv1521392 M 6533 0 2 C4orf37 SP52365,SP81448 nsv461595 4 99284503 99391198 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537969 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01184 nsv470061 4 99297128 99379722 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546348 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01184 nsv879651 4 99324078 99660372 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551582 S 6533 1 0 RAP1GDS1,TSPAN5 MS18946 nsv509917 4 99334094 99340094 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618176 S 4 0 1 "" CHM nsv879652 4 99344682 99522656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561439 S 6533 1 0 RAP1GDS1 MS24995 nsv528127 4 99365459 99448862 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704672 S 2026 1 0 RAP1GDS1 nsv879653 4 99371654 99479446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547147 S 6533 0 1 RAP1GDS1 MS17216 esv269762 4 99665723 99665894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510164,essv2503212,essv2511237,essv2505513,essv2495381,essv2510333,essv2505030,essv2504122,essv2509734,essv2493779,essv2506215,essv2498391,essv2505878,essv2497961,essv2512362,essv2500550,essv2502664,essv2501297,essv2506532,essv2511578 M 157 20 0 Samples from several populations that are part of the HapMap project. TSPAN5 NA07346,NA10851,NA11881,NA11931,NA12154,NA12287,NA12414,NA12828,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18945,NA18949,NA18956,NA18965,NA19093,NA19108 esv2006056 4 99899793 99902001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820547 S 1 0 1 "" NA18507 esv29735 4 99899876 99901923 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12711 S 451 0 5 "" NA18505,NA18517,NA18909,NA19099,NA19129 nsv509918 4 99901503 99907503 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618177,nssv622060,nssv623951 M 4 0 3 "" CHM,NA10860,NA18994 nsv4437 4 99905631 99939149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4770 S 9 1 0 "" NA19129 esv273196 4 99960802 99961132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584378,essv2584421,essv2583579 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv879654 4 99968011 100096425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574713 S 6533 0 1 EIF4E IS33616 nsv879655 4 100002756 100062136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507512 S 6533 0 1 EIF4E SP54579 nsv822666 4 100032116 100036060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424926 S 31 0 1 EIF4E AK2 nsv821288 4 100032116 100038009 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420432 S 1 1 0 EIF4E NA10851 nsv819967 4 100032532 100036864 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419629 S 2 0 1 EIF4E AK1 esv27868 4 100032557 100037264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20331 S 451 0 13 EIF4E NA11894,NA11995,NA12004,NA12749,NA12776,NA18508,NA18517,NA18858,NA18916,NA19099,NA19114,NA19147,NA19225 esv1000667 4 100032681 100036060 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586866 S 3 1 0 EIF4E HuRef esv260038 4 100032801 100036217 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396095,essv2400256,essv2399830,essv2396813 M 144 0 0 Samples from several populations that are part of the HapMap project. EIF4E NA07346,NA11829,NA11994,NA12155 esv997164 4 100033860 100035969 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565768 S 3 1 0 EIF4E HuRef nsv822667 4 100092576 100093075 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440303 S 31 0 1 "" NA18564 nsv4438 4 100169677 100203264 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4771 S 9 1 0 METAP1 NA19129 nsv879656 4 100195669 100752745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513560 S 6533 1 0 ADH1A,ADH1B,ADH1C,ADH4,ADH5,ADH6,ADH7,C4orf17,LOC100507053,METAP1,MTTP,PCNAP1,RG9MTD2 SP55797 esv2569136 4 100241282 100242934 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193554 S 1 0 1 LOC100507053 NA18507 esv1947060 4 100241859 100242592 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571608 S 1 0 1 LOC100507053 NA18507 esv4382 4 100242025 100242511 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26823 S 1 0 1 Single Asian sample YH LOC100507053 YH esv5687 4 100242065 100242387 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28128 S 1 0 1 LOC100507053 SJK dgv160n6 4 100242066 100242408 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289916,nsv292906 M 24 LOC100507053 esv1010884 4 100242072 100242406 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577323 S 3 0 1 LOC100507053 HuRef esv2586628 4 100288748 100290358 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178508 S 1 0 1 LOC100507053 NA18507 esv1007608 4 100288802 100289813 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565464 S 3 0 1 LOC100507053 HuRef esv2146603 4 100289108 100289827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649745 S 1 0 1 LOC100507053 NA18507 esv3997 4 100289287 100289747 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26438 S 1 0 1 Single Asian sample YH LOC100507053 YH esv2456401 4 100289312 100289627 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349830 S 1 0 1 LOC100507053 NA18507 nsv289679 4 100289312 100289627 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308257 M 24 LOC100507053 esv7314 4 100289327 100289626 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29755 S 1 0 1 LOC100507053 SJK esv1493994 4 100289327 100289643 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766597 S 2 0 1 LOC100507053 HuRef nsv879657 4 100301177 100358389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554738 S 6533 0 1 ADH6,LOC100507053,PCNAP1 MS20957 esv1673129 4 100319737 100319737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3910773 S 2 1 0 LOC100507053 HuRef nsv879658 4 100342799 100350186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518255,nssv1511177 M 6533 0 2 ADH6,LOC100507053 SP55019,SP57481 nsv528518 4 100477178 100493772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705128 S 2026 0 1 ADH1C nsv293592 4 100477798 100478575 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312170 M 24 ADH1C nsv879659 4 100479812 100568158 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540805 S 6533 1 0 ADH1C,ADH7 MS15036 nsv879660 4 100503222 100599171 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539918 S 6533 0 1 ADH7 MS14601 nsv517344 4 100541468 100582592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666180,nssv651785 M 2026 2 0 ADH7 esv272720 4 100595800 100596133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581797,essv2582480,essv2584301,essv2583661 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv270350 4 100595801 100596132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558046,essv2576684,essv2554095,essv2559738,essv2576507,essv2537351,essv2528369,essv2532314,essv2569363,essv2578796,essv2542664,essv2524659,essv2522238,essv2566915,essv2556157,essv2527780,essv2562334,essv2539457,essv2534000,essv2567249,essv2529654,essv2575167,essv2526637,essv2574601,essv2530330,essv2568808,essv2549919,essv2571239,essv2574463,essv2551350,essv2548822,essv2532973,essv2548005 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA10851,NA12154,NA12287,NA12776,NA12814,NA12878,NA12891,NA18505,NA18508,NA18510,NA18550,NA18555,NA18571,NA18853,NA18871,NA18907,NA18909,NA18912,NA18916,NA18947,NA19093,NA19102,NA19114,NA19138,NA19141,NA19147,NA19225,NA19238,NA19240,NA19257 esv2488524 4 100728656 100729498 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321131 S 1 1 0 MTTP NA18507 nsv512831 4 100728804 100729843 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625468 S 1 1 0 MTTP 1 nsv289933 4 100728869 100729010 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308511 M 24 MTTP esv1240378 4 100729224 100729224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998293 S 2 1 0 MTTP HuRef nsv436795 4 100781832 100782325 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466134 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv270372 4 100959850 100959992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510970,essv2505129,essv2502328,essv2500198,essv2503399,essv2502546,essv2493479,essv2507469,essv2511121,essv2497382,essv2503639,essv2495780,essv2504361,essv2513089 M 157 14 0 Samples from several populations that are part of the HapMap project. DAPP1 NA06986,NA07000,NA07347,NA10847,NA11831,NA11995,NA12004,NA12006,NA12716,NA12750,NA12763,NA18638,NA18944,NA18959 nsv520074 4 101001066 101004003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690348,nssv660543,nssv660495,nssv691558,nssv691192 M 2026 0 5 DAPP1 nsv879661 4 101024230 101088658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518129 S 6533 0 1 DNAJB14,H2AFZ,LAMTOR3 SP57469 nsv879662 4 101068489 101095671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515534 S 6533 0 1 DNAJB14,H2AFZ,LOC256880 SP56223 nsv879663 4 101085483 101095671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505854 S 6533 0 1 DNAJB14,H2AFZ,LOC256880 SP54042 nsv822668 4 101088780 101091136 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432785 S 31 1 0 H2AFZ,LOC256880 NA18972 esv25894 4 101089826 101090446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19829 S 451 0 1 H2AFZ NA07045 esv270885 4 101152272 101152357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514746 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 nsv4439 4 101159451 101193548 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3133 S 9 1 0 "" NA18555 nsv830018 4 101196261 101246943 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443880,nssv1443875,nssv1443870,nssv1443873,nssv1443871,nssv1443876,nssv1443872,nssv1443884,nssv1443879,nssv1443878,nssv1443877,nssv1443883,nssv1443882,nssv1443881,nssv1443886 M 95 0 15 "" nsv830019 4 101242689 101427931 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443887 S 95 1 0 DDIT4L nsv441902 4 101293833 101320088 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv822669 4 101297871 101307519 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428997 S 31 0 1 "" AK12 nsv818257 4 101304281 101319681 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417488 S 112 0 1 "" NA18965 esv1023195 4 101318931 101318931 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153650 S 2 1 0 "" HuRef nsv822670 4 101319506 101320897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428998 S 31 0 1 "" AK12 nsv822671 4 101356769 101365463 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425463 S 31 0 1 "" NA18968 nsv879664 4 101413005 101457409 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571368 S 6533 1 0 "" IS32704 esv2496304 4 101463211 101464872 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385591 S 1 0 1 "" NA18507 esv2313244 4 101463674 101464317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931207 S 1 0 1 "" NA18507 esv988824 4 101463869 101464132 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568038 S 3 0 1 "" HuRef esv2579159 4 101463872 101464135 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349675 S 1 0 1 "" NA18507 esv1476729 4 101463874 101464138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599566 S 2 0 1 "" HuRef dgv5664n71 4 101481863 101537071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879665,nsv879666 M 6533 0 2 EMCN MS16531,MS23486 nsv521801 4 101538188 101540787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694571 S 2026 0 1 EMCN esv2434052 4 101581851 101583360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248135 S 1 0 1 EMCN NA18507 esv1322255 4 101609659 101609837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590244 S 2 0 1 EMCN HuRef esv2422310 4 101619007 101700685 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161555 S 181 0 1 EMCN ND01692 dgv5665n71 4 101690779 101742335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879668,nsv879667 M 6533 0 2 "" IS37098,SP57367 esv2011145 4 101712283 101712717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954468 S 1 0 1 "" NA18507 esv4435 4 101712385 101712692 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26876 S 1 0 1 Single Asian sample YH "" YH nsv292058 4 101712397 101712498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310636 M 24 "" esv1743257 4 101785981 101786043 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188346 S 2 0 1 "" HuRef esv2596598 4 101818484 101821581 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175449 S 1 0 1 "" NA18507 esv2236128 4 101818593 101820720 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744202 S 1 0 1 "" NA18507 esv29649 4 101818670 101820508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10228 S 451 0 6 "" NA18502,NA18517,NA18523,NA19099,NA19147,NA19190 nsv517131 4 101818877 101818931 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679596,nssv663986,nssv657777,nssv661419,nssv660740,nssv666560,nssv664220,nssv691121,nssv677281,nssv680050,nssv665229,nssv689023,nssv675029,nssv690106,nssv665456,nssv678015,nssv690163,nssv675449,nssv653833,nssv656407,nssv679648,nssv652435,nssv669386,nssv689270,nssv687526,nssv680376,nssv675643,nssv664761,nssv661691,nssv653343,nssv675947,nssv657422 M 2026 0 32 "" nsv513153 4 102178717 102180251 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626648 S 1 0 1 PPP3CA 1 nsv820786 4 102179009 102180228 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420433 S 1 0 1 PPP3CA NA10851 dgv888n67 4 102179009 102180436 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822673,nsv822672 M 31 0 3 PPP3CA AK10,AK14,NA18542 nsv820075 4 102179117 102180114 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419150 S 2 1 0 PPP3CA AK1 nsv511238 4 102179118 102184318 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624544 S 1 0 1 PPP3CA 1 esv29822 4 102179145 102180228 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20737,esv13497 M 451 24 2 PPP3CA NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12287,NA12489,NA12749,NA12776,NA15510,NA18502,NA18508,NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 dgv5666n71 4 102208839 102277865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879669,nsv879670,nsv879671,nsv879672 M 6533 0 9 PPP3CA IS31041,IS31067,IS35196,IS35263,IS36170,IS39923,IS41043,IS41094,MS25751 dgv5667n71 4 102221146 102267099 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879674,nsv879673 M 6533 3 0 PPP3CA IS30620,IS34555,IS41906 nsv879675 4 102228850 102262633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569033,nssv1551301 M 6533 0 2 PPP3CA IS31401,MS18847 esv2203085 4 102230920 102231288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689561 S 1 0 1 PPP3CA NA18507 nsv290022 4 102231014 102231103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308600 M 24 PPP3CA esv1177673 4 102246634 102246634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692781 S 2 1 0 PPP3CA HuRef nsv518217 4 102259114 102261072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695642 S 2026 0 1 PPP3CA esv268371 4 102260736 102260821 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516631,essv2516149,essv2513605 M 157 3 0 Samples from several populations that are part of the HapMap project. PPP3CA NA07347,NA11881,NA12873 esv28316 4 102300224 102304016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18835 S 451 0 1 PPP3CA NA19108 esv2607263 4 102303892 102304619 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300852 S 1 1 0 PPP3CA NA18507 nsv512832 4 102304081 102304457 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625469 S 1 1 0 PPP3CA 1 nsv879676 4 102421308 102559953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517732 S 6533 0 1 FLJ20021,PPP3CA SP57367 esv2602939 4 102466187 102467780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230970 S 1 0 1 PPP3CA NA18507 nsv509012 4 102482823 102502990 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619379 S 4 1 0 FLJ20021,PPP3CA NA10860 nsv879677 4 102576957 102739808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534112 S 6533 0 1 "" MS11467 esv2653467 4 102585407 102587019 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296148 S 1 0 1 "" NA18507 esv2520927 4 102609807 102611258 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306740 S 1 0 1 "" NA18507 esv2605504 4 102654723 102656186 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181751 S 1 0 1 "" NA18507 esv270530 4 102692237 102692322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519403,essv2513706 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347 dgv5668n71 4 102788753 102878014 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879678,nsv879679 M 6533 0 3 "" SP50653,SP51102,SP58382 nsv879680 4 102833192 102915242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598569 S 6533 0 1 "" IS41292 nsv879681 4 102860288 102988700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574672 S 6533 0 1 BANK1 IS33605 dgv1654e1 4 102881722 103227963 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9472,esv594,essv8137 M 271 0 0 BANK1 NA19206,NA19208 esv1457305 4 102889901 102890309 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720507 S 2 0 1 "" HuRef nsv10540 4 102962200 102965257 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13663 S 31 1 0 Samples from several populations that are part of the HapMap project. BANK1 NA18504 essv16616 4 102991884 103152972 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. BANK1 NA19208 nsv513154 4 103005482 103008970 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626649 S 1 0 1 BANK1 1 esv2032362 4 103006621 103007577 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543627 S 1 0 1 BANK1 NA18507 esv8035 4 103006816 103007379 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30476 S 1 0 1 BANK1 SJK esv271221 4 103023003 103023321 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509670,essv2505307,essv2498444 M 157 3 0 Samples from several populations that are part of the HapMap project. BANK1 NA18508,NA18853,NA18858 nsv879682 4 103078858 103307514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582077 S 6533 0 1 BANK1 IS35788 nsv4440 4 103084598 103117765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7982 S 9 1 0 BANK1 NA12156 nsv290436 4 103147224 103147224 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309014 M 24 BANK1 nsv461596 4 103154925 103227735 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537970 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BANK1 HGDP00531 nsv4441 4 103179951 103213938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3134 S 9 1 0 BANK1 NA18555 nsv461597 4 103187105 103235901 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537971 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BANK1 HGDP01177 nsv428447 4 103322753 103481130 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454572 S 62 1 0 SLC39A8 HGDP00449 nsv291796 4 103337591 103337591 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310374 M 24 "" nsv507184 4 103343550 103349550 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620256,nssv617639,nssv621757,nssv622898 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2466151 4 103351752 103352938 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387444 S 1 1 0 "" NA18507 esv268590 4 103352340 103352425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514551,essv2517395,essv2518625,essv2514962,essv2519012,essv2513760,essv2518341 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA12287,NA12812,NA19141,NA19143,NA19240 esv272844 4 103352340 103352425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581082 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv293001 4 103352380 103352380 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311579 M 24 "" esv1667320 4 103460633 103460697 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4204411 S 2 0 1 SLC39A8 HuRef nsv435787 4 103544978 103551430 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466135 S 2 0 1 "" NA15510 nsv513155 4 103548314 103551848 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626650 S 1 0 1 "" 1 esv1563471 4 103549274 103549274 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666876 S 2 1 0 "" HuRef esv1285856 4 103550141 103550193 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366465 S 2 0 1 "" HuRef esv2251214 4 103550220 103551068 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731286 S 1 0 1 "" NA18507 esv1738213 4 103550362 103550894 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322825 S 2 0 1 "" HuRef nsv507185 4 103555387 103561387 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620257,nssv621758 M 4 2 0 "" NA10860,NA15510 nsv512833 4 103562599 103562786 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625470 S 1 1 0 "" 1 esv269590 4 103562729 103562814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518529 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv521275 4 103592311 103592489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697881 S 2026 0 1 "" esv1634652 4 103604431 103604431 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696385 S 2 1 0 "" HuRef nsv830020 4 103606367 103800332 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443888 S 95 0 1 MANBA,NFKB1 nsv4442 4 103638235 103669851 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10417 S 9 1 0 NFKB1 NA18956 esv27559 4 103641245 103641975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15963 S 451 0 1 NFKB1 NA07045 esv2498239 4 103759701 103761028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189655 S 1 0 1 "" NA18507 nsv822674 4 103773651 103774102 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438103 S 31 1 0 MANBA NA18951 dgv889n67 4 103773651 103774262 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822677,nsv822676 M 31 2 0 MANBA NA18947,NA18999 nsv4444 4 103788132 103809472 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3272 S 9 1 0 MANBA NA12878 nsv526256 4 103931669 103947120 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702528 S 2026 0 1 UBE2D3 nsv10541 4 103997546 104005075 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11972,nssv12454 M 31 0 2 Samples from several populations that are part of the HapMap project. UBE2D3 NA07029,NA10839 esv23610 4 103998378 104002729 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21280 S 451 0 1 UBE2D3 NA12006 dgv1655e1 4 103999805 104161894 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3884,essv12179,essv22104,essv24673,essv10866 M 271 0 0 CISD2,SLC9B1,UBE2D3 NA10857,NA11829,NA18871,NA18994,NA19101 dgv1656e1 4 103999805 104276770 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv824,esv93 M 271 0 0 BDH2,CENPE,CISD2,SLC9B1,SLC9B2,UBE2D3 NA18973 nsv879683 4 104004140 104136166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594123 S 6533 0 1 CISD2,SLC9B1,UBE2D3 IS39716 esv3894 4 104004557 104005009 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26335 S 1 0 1 Single Asian sample YH UBE2D3 YH esv8365 4 104004589 104004999 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30806 S 1 0 1 UBE2D3 SJK dgv161n6 4 104004613 104004961 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289504,nsv290357 M 24 UBE2D3 esv990368 4 104004614 104004960 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570248 S 3 0 1 UBE2D3 HuRef nsv528680 4 104027155 104052376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705321 S 2026 0 1 CISD2,SLC9B1 nsv461598 4 104027155 104172838 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537972 S 1557 0 1 CISD2,SLC9B1,SLC9B2 NINDS_162 nsv10542 4 104038626 104091231 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13392 S 31 0 1 Samples from several populations that are part of the HapMap project. SLC9B1 NA18502 nsv508300 4 104077485 104096278 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622493 S 4 0 1 SLC9B1 NA18994 esv2588063 4 104091375 104095351 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217460 S 1 0 1 SLC9B1 NA18507 esv988357 4 104091508 104095669 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565792 S 3 0 1 SLC9B1 HuRef nsv513156 4 104091577 104095753 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626651 S 1 0 1 SLC9B1 1 nsv436415 4 104092281 104098082 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466136 S 2 0 1 Samples from several populations that are part of the HapMap project. SLC9B1 NA18505 esv2178050 4 104092364 104095160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511723 S 1 0 1 SLC9B1 NA18507 esv1026728 4 104092568 104095074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000519 S 2 0 1 SLC9B1 HuRef nsv879684 4 104107010 104159343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508407 S 6533 0 1 SLC9B1 SP54579 nsv4445 4 104144017 104175569 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4772 S 9 1 0 SLC9B1,SLC9B2 NA19129 nsv830021 4 104153903 104320037 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443889 S 95 0 1 BDH2,CENPE,SLC9B1,SLC9B2 nsv4446 4 104176009 104199576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3135 S 9 1 0 SLC9B2 NA18555 esv2554056 4 104252687 104255443 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192777 S 1 0 1 CENPE NA18507 esv1606562 4 104253503 104253559 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284659 S 2 0 1 CENPE HuRef nsv830022 4 104306648 104477233 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443890 S 95 0 1 CENPE nsv821637 4 104354288 104465616 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421381 S 31 0 1 "" dgv1657e1 4 104399374 104561844 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10365,essv14634,esv233,essv16360,essv9772,essv14962,essv9720 M 271 0 0 "" NA18863,NA18870,NA18913,NA19093,NA19193,NA19222 nsv10543 4 104410638 104468657 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14370 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv96n17 4 104413213 104439843 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437407,nsv437406 M 60 0 2 "" NA18521,NA18872 dgv663n27 4 104413778 104462439 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461602,nsv461599,nsv461601,nsv461600 M 1557 0 4 "" HGDP00464,HGDP00473,HGDP01094,HGDP01286 esv21904 4 104419672 104468290 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10488 S 451 0 4 "" NA18861,NA19108,NA19190,NA19257 nsv526027 4 104419678 104469773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702257 S 2026 0 1 "" nsv437408 4 104419678 104473458 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467289 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv2421357 4 104422038 104467383 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129906,essv5135193,essv5092946,essv5036951,essv5144138,essv5004660,essv5128476,essv5051818,essv5104552,essv5006853,essv5047771,essv5031613,essv5067626,essv5029184,essv5119045,essv5085578,essv5024886,essv5021236,essv5139256,essv5059926,essv5060027,essv5106586,essv5012039,essv5031412,essv5075807,essv5023799,essv5017507,essv5082523,essv5128369,essv5058401,essv5032940,essv5117644,essv5103149,essv5149675,essv5033541,essv5072789,essv5043770,essv5086077,essv5113064,essv5062228,essv5056958,essv5095829,essv5055604,essv5047668,essv5102013,essv5147220,essv5063374,essv5064625,essv5089924,essv5035748,essv5065312,essv5147558,essv5048411,essv5072809,essv5067872,essv5147781,essv5023199,essv5115330,essv5045697,essv5127906,essv5017409,essv5122756 M 1184 0 62 "" NA18489,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18913,NA19036,NA19093,NA19108,NA19175,NA19176,NA19182,NA19190,NA19193,NA19213,NA19214,NA19221,NA19222,NA19224,NA19226,NA19238,NA19257,NA19310,NA19318,NA19347,NA19352,NA19371,NA19377,NA19403,NA19474,NA19921,NA20129,NA20344,NA20345,NA21303,NA21313,NA21336,NA21353,NA21360,NA21361,NA21362,NA21379,NA21384,NA21388,NA21400,NA21424,NA21438,NA21439,NA21485,NA21486,NA21487,NA21510,NA21524,NA21574,NA21575,NA21582,NA21617,NA21619,NA21650,NA21740 nsv879685 4 104423858 104477845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529599 S 6533 0 1 "" MS10065 nsv442914 4 104426263 104467383 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516818 4 104428735 104454829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683089,nssv664221,nssv669253,nssv677247,nssv664657,nssv657505,nssv672186,nssv653578,nssv653834,nssv679805,nssv690942,nssv661420,nssv665230,nssv664260,nssv692173,nssv654502,nssv667365,nssv693667,nssv687268,nssv664786,nssv685301,nssv665295,nssv651951,nssv661913,nssv679026,nssv680775,nssv680157,nssv656495,nssv665045,nssv689515,nssv653108,nssv658130,nssv667450,nssv666561,nssv686961,nssv683863,nssv671648 M 2026 0 37 "" nsv818258 4 104428735 104454829 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416841 S 112 0 1 "" NA19238 dgv664n27 4 104428735 104469773 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461606,nsv461604,nsv461603 M 1557 0 3 "" HGDP00479,HGDP00912,HGDP00917 nsv514235 4 104431008 104467400 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627676 S 1414 0 1 "" nsv437928 4 104431580 104432429 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468533,nssv468529,nssv468532,nssv468531 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18521,NA18522,NA18870,NA18872 esv267830 4 104434081 104434166 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517492,essv2518159,essv2515982,essv2517754,essv2517359 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12872,NA12873,NA12878,NA18970 esv272633 4 104434081 104434166 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581583 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv879686 4 104480174 104555116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600662 S 6533 0 1 "" IS41909 nsv879687 4 104508069 104591234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578077 S 6533 0 1 "" IS34658 nsv830023 4 104552491 104742250 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443891 S 95 0 1 TACR3 nsv292824 4 104578087 104578137 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311402 M 24 "" esv1145314 4 104623139 104623139 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952713 S 2 1 0 "" HuRef nsv529017 4 104633960 104687483 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705728 S 2026 1 0 "" nsv4447 4 104647020 104691666 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7983 S 9 0 1 "" NA12156 nsv879688 4 104647949 104804544 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579135 S 6533 1 0 TACR3 IS35018 nsv10544 4 104658423 104685392 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13452 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv528103 4 104691520 104700248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704644 S 2026 0 1 "" esv27466 4 104780315 104794066 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21136 S 451 0 1 TACR3 NA19190 dgv5669n71 4 104885187 105017354 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879691,nsv879690,nsv879689 M 6533 0 3 "" IS30171,IS36219,MS12827 nsv436960 4 104953292 104983361 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466841 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 dgv5670n71 4 104955035 105009156 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879692,nsv879694 M 6533 0 2 "" IS35726,IS38239 dgv5671n71 4 104955035 105093203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879695,nsv879693,nsv879696 M 6533 0 3 "" IS31729,MS10802,MS18620 nsv10545 4 104955378 104981344 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12484 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv519782 4 104960764 104973072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671326,nssv658562,nssv672742,nssv659823,nssv689812 M 2026 0 5 "" nsv514236 4 104961824 104980376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627677 S 1414 0 1 "" nsv441903 4 104961839 104980713 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2520416 4 104963676 104964617 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270668 S 1 1 0 "" NA18507 esv268897 4 104964028 104964367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514682,essv2514874,essv2515084,essv2516335,essv2516158,essv2514364,essv2517783,essv2515809,essv2513911,essv2518362,essv2519465 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12234,NA12812,NA12814,NA12873,NA12874,NA12878,NA18969,NA19143,NA19240 esv274545 4 104964028 104964367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581433,essv2581171 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1212481 4 104964066 104964066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694855 S 2 1 0 "" HuRef nsv437929 4 104973072 104980491 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468534,nssv468535 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA12005 nsv517732 4 105026607 105064034 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666831,nssv704665,nssv681170,nssv658885,nssv677098,nssv675349,nssv656594,nssv658260,nssv666790,nssv693861,nssv653035,nssv662890,nssv657350,nssv660565,nssv690660,nssv684322,nssv681557,nssv687222,nssv661692 M 2026 0 19 "" nsv879697 4 105050557 105088138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517733 S 6533 0 1 "" SP57367 esv2609461 4 105113159 105114580 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262925 S 1 0 1 "" NA18507 esv2265121 4 105113341 105114307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611536 S 1 0 1 "" NA18507 esv5362 4 105113449 105114184 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27803 S 1 0 1 Single Asian sample YH "" YH nsv513157 4 105113458 105114476 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626652 S 1 0 1 "" 1 esv8495 4 105113495 105114129 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30936 S 1 0 1 "" SJK nsv289652 4 105113496 105114126 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308230 M 24 "" esv23924 4 105113541 105114146 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13442 S 451 18 0 "" NA06985,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12414,NA12749,NA12776,NA18508,NA18511,NA18517,NA19099,NA19108,NA19114,NA19190,NA19225 esv988601 4 105113541 105114146 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586052 S 3 1 0 "" HuRef nsv820940 4 105113541 105114146 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420434 S 1 0 1 "" NA10851 nsv4448 4 105121071 105141852 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7984 S 9 0 1 "" NA12156 nsv461607 4 105123328 105197480 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537981 S 1557 0 1 "" NINDS_48 nsv520147 4 105125581 105127344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691314,nssv661208 M 2026 0 2 "" nsv822678 4 105228291 105229041 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424155 S 31 1 0 "" NA18582 nsv461608 4 105244273 105261017 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537982 S 1557 0 1 "" 1780862074_A nsv519400 4 105297956 105304260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694327 S 2026 0 1 "" nsv293576 4 105365767 105366033 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312154 M 24 "" esv25095 4 105485767 105493208 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20982 S 451 0 1 "" NA19108 nsv523700 4 105526378 105531406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699507 S 2026 0 1 "" nsv470062 4 105526378 105617517 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546349 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CXXC4 HGDP01397 nsv509919 4 105594438 105600438 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618178,nssv622061 M 4 0 2 "" CHM,NA10860 esv271864 4 105685985 105686326 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514783,essv2515606,essv2514215 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12815,NA12874 esv1543505 4 105722407 105722619 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220988 S 2 0 1 "" HuRef nsv290024 4 105726639 105732784 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308602 M 24 "" esv1004957 4 105735956 105741673 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565036 S 3 0 1 "" HuRef nsv4449 4 105791501 105826556 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv403 S 9 1 0 "" NA19240 esv2561233 4 105799621 105801013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382220 S 1 0 1 "" NA18507 esv269852 4 105816539 105816864 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510154,essv2495472,essv2499338,essv2503804,essv2493338,essv2496854,essv2511880,essv2510756,essv2493195,essv2502968,essv2509731,essv2508972,essv2500475,essv2507634,essv2510066,essv2507514,essv2500958,essv2498554,essv2509176,essv2506825,essv2499030,essv2496936,essv2493831,essv2499730,essv2512139,essv2497986,essv2502020,essv2503646,essv2495085,essv2511550,essv2504370 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA11829,NA11919,NA11994,NA12761,NA12776,NA18498,NA18499,NA18501,NA18504,NA18507,NA18508,NA18522,NA18537,NA18576,NA18593,NA18638,NA18856,NA18858,NA18909,NA19102,NA19114,NA19190,NA19210,NA19225,NA19238,NA19240,NA19257 esv272816 4 105816551 105816877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583902,essv2583584 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv518787 4 105854681 105904330 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694274 S 2026 0 1 "" esv2654902 4 105970458 105971993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200304 S 1 0 1 "" NA18507 esv2261315 4 105971132 105971701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985003 S 1 0 1 "" NA18507 esv4716 4 105971254 105971692 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27157 S 1 0 1 Single Asian sample YH "" YH nsv292869 4 105971317 105971504 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311447 M 24 "" nsv461609 4 106088997 106585658 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537983 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPA2,TET2 HGDP01035 nsv470063 4 106088997 106585658 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546350 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPA2,TET2 HGDP01035 nsv830024 4 106103799 106257265 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443892 S 95 0 1 "" nsv830025 4 106208325 106357395 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443893 S 95 0 1 TET2 esv1980765 4 106343999 106344343 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868823 S 1 0 1 TET2 NA18507 esv2597001 4 106367096 106368595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286746 S 1 0 1 TET2 NA18507 esv2009359 4 106367924 106368383 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518130 S 1 0 1 TET2 NA18507 esv3798 4 106368039 106368275 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26239 S 1 0 1 Single Asian sample YH TET2 YH nsv292428 4 106370273 106373989 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311006 M 24 TET2 nsv879698 4 106375200 106528673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534605 S 6533 0 1 PPA2,TET2 MS11693 nsv879699 4 106432011 106918341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563742 S 6533 1 0 ARHGEF38,GSTCD,INTS12,PPA2 IS30063 nsv830027 4 106441459 106626187 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443894 S 95 1 0 PPA2 esv2004569 4 106454159 106454585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4957199 S 1 0 1 "" NA18507 nsv291749 4 106454303 106454303 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310327 M 24 "" dgv162n6 4 106454334 106454398 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291944,nsv291410 M 24 "" esv275355 4 106661661 106662035 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586099 S 1250 0 1 "" nsv521423 4 106661967 106668349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694085 S 2026 0 1 "" nsv461610 4 106685577 106710960 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537984 S 1557 0 1 ARHGEF38 1780862202_A nsv524424 4 106685577 106710960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700350 S 2026 0 1 ARHGEF38 nsv517837 4 106686037 106721962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695242 S 2026 0 1 ARHGEF38 nsv291273 4 106702011 106702081 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309851 M 24 ARHGEF38 nsv290938 4 106702089 106702148 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309516 M 24 ARHGEF38 nsv518958 4 106705194 106706033 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696425 S 2026 1 0 ARHGEF38 esv271243 4 106726813 106726898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517468 S 157 1 0 Samples from several populations that are part of the HapMap project. ARHGEF38 NA11918 esv273489 4 106770117 106770307 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579213 S 7 1 0 Samples from several populations that are part of the HapMap project. ARHGEF38 NA19239 esv267409 4 106770174 106770259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519137,essv2515195 M 157 2 0 Samples from several populations that are part of the HapMap project. ARHGEF38 NA19141,NA19238 esv22942 4 106797316 106802569 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14749 S 451 0 1 ARHGEF38 NA11993 esv272461 4 106856261 106856385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580071,essv2580309,essv2579830 M 7 3 0 Samples from several populations that are part of the HapMap project. GSTCD NA12878,NA12891,NA12892 esv271140 4 106856280 106856587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510981,essv2508033,essv2512626,essv2494354,essv2504194,essv2509669,essv2496372,essv2493592,essv2494929,essv2506229,essv2508722,essv2508277,essv2507596,essv2512728,essv2508426,essv2512933,essv2509275,essv2501375,essv2504754,essv2497021,essv2499752,essv2501988,essv2498224,essv2502166,essv2503998 M 157 25 0 Samples from several populations that are part of the HapMap project. GSTCD NA07037,NA11831,NA12003,NA18489,NA18502,NA18505,NA18508,NA18510,NA18517,NA18520,NA18523,NA18532,NA18561,NA18576,NA18577,NA18582,NA18609,NA18909,NA19093,NA19099,NA19190,NA19225,NA19239,NA19240,NA19257 nsv879700 4 106862894 106964506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505563 S 6533 0 1 GSTCD SP53687 nsv436449 4 106926305 106937012 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466137 S 2 0 1 Samples from several populations that are part of the HapMap project. GSTCD NA18505 esv26261 4 106927799 106936596 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13123 S 451 0 1 GSTCD NA18505 nsv441904 4 106929541 106936543 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GSTCD nsv514237 4 106929656 106936112 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627678 S 1414 0 1 GSTCD nsv526871 4 106969663 106970477 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703229 S 2026 1 0 GSTCD nsv830028 4 106988748 107021255 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443895,nssv1443897 M 95 0 2 "" nsv509920 4 107014909 107020909 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622062,nssv618179 M 4 0 2 "" CHM,NA10860 esv2418320 4 107038738 107039139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555749 S 1 0 1 NPNT NA18507 nsv522792 4 107115413 107202242 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698436 S 2026 1 0 TBCK esv268669 4 107116448 107116545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501086,essv2506166,essv2505186,essv2505775,essv2513360,essv2511948,essv2498248 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18523,NA18853,NA18861,NA18907,NA19238,NA19240 esv272966 4 107116451 107116778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584002,essv2583832 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv290813 4 107116480 107120375 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309391 M 24 "" esv2422027 4 107156053 107165884 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142711,essv5005654,essv5010256,essv5010844,essv5025927,essv5153406,essv5106497,essv5157925,essv5050440,essv5061038,essv5100155,essv5034297,essv5058651,essv5057615,essv5070971,essv5090424,essv5144268,essv5158200,essv5097607,essv5064280,essv5160265,essv5009360,essv5067152,essv5106179,essv5076103,essv5147778,essv5096161,essv5147131,essv5108533,essv5117325,essv5025867,essv5149293,essv5098504,essv5021531,essv5023253,essv5038880,essv5014394,essv5023009,essv5068340,essv5023995,essv5036341,essv5132026,essv5018344,essv5016657,essv5100299,essv5091756,essv5145234,essv5063212,essv5022596,essv5155245,essv5060820,essv5088733,essv5131683,essv5088721,essv5140864,essv5092359,essv5076474,essv5056498,essv5132906,essv5104899,essv5034345,essv5006781,essv5159500,essv5083789,essv5147864,essv5011594,essv5079160,essv5060547,essv5088298,essv5071767,essv5063214,essv5085917,essv5117147,essv5157944,essv5042362,essv5124911,essv5059371,essv5045116,essv5147996,essv5147613,essv5140486,essv5084337,essv5038303,essv5036346,essv5154763,essv5103233,essv5143867,essv5113748,essv5126632,essv5115362,essv5044129,essv5077858,essv5133157,essv5153306,essv5114934,essv5132653,essv5065434,essv5070282,essv5034605,essv5138276,essv5089031,essv5038733,essv5135027,essv5057561,essv5116561,essv5147298,essv5124871,essv5018679,essv5011079,essv5155977,essv5059586,essv5058300,essv5139773,essv5132143,essv5137315,essv5011520,essv5124192,essv5060023,essv5080924,essv5044281,essv5074571,essv5040436,essv5155062,essv5071603,essv5081532,essv5029658,essv5038154,essv5113681,essv5106321,essv5054544,essv5075101,essv5013602,essv5020098,essv5048061,essv5045925,essv5081910,essv5040768,essv5150458,essv5019981,essv5156725,essv5083855,essv5139158,essv5097151,essv5063486,essv5020844,essv5003194,essv5139862,essv5145618,essv5002845,essv5106611,essv5128697,essv5069243,essv5116906,essv5145904,essv5049323,essv5053503,essv5123339,essv5090997,essv5110388,essv5069316,essv5121658,essv5113011,essv5098187,essv5089412,essv5073588,essv5090088,essv5117303,essv5112540,essv5010758,essv5059264,essv5141727,essv5056598,essv5054204,essv5021504,essv5039294,essv5049290,essv5062271,essv5153666,essv5077719,essv5034636,essv5102857,essv5028625,essv5114991,essv5142171,essv5079955,essv5092775,essv5060914,essv5019498,essv5068530,essv5048824,essv5041763,essv5014623,essv5016831,essv5093788,essv5059480,essv5036428,essv5009405,essv5131473,essv5106528,essv5050058 M 1184 0 200 "" NA17962,NA17965,NA17968,NA17969,NA17972,NA17974,NA17979,NA17982,NA17987,NA17988,NA17996,NA18105,NA18107,NA18114,NA18118,NA18124,NA18125,NA18127,NA18129,NA18131,NA18133,NA18136,NA18138,NA18143,NA18146,NA18148,NA18153,NA18156,NA18489,NA18510,NA18515,NA18526,NA18534,NA18542,NA18545,NA18548,NA18557,NA18561,NA18562,NA18571,NA18573,NA18594,NA18603,NA18605,NA18613,NA18617,NA18618,NA18620,NA18621,NA18623,NA18628,NA18694,NA18704,NA18745,NA18747,NA18852,NA18853,NA18854,NA18855,NA18861,NA18863,NA18867,NA18869,NA18874,NA18875,NA18913,NA18914,NA18924,NA18939,NA18940,NA18946,NA18947,NA18948,NA18949,NA18951,NA18954,NA18956,NA18960,NA18961,NA18962,NA18964,NA18968,NA18970,NA18971,NA18975,NA18976,NA18977,NA18981,NA18987,NA18997,NA18999,NA19000,NA19010,NA19036,NA19057,NA19067,NA19068,NA19074,NA19076,NA19077,NA19078,NA19083,NA19088,NA19095,NA19097,NA19098,NA19122,NA19128,NA19129,NA19137,NA19150,NA19151,NA19159,NA19171,NA19210,NA19211,NA19214,NA19222,NA19223,NA19224,NA19226,NA19240,NA19307,NA19310,NA19316,NA19319,NA19384,NA19391,NA19393,NA19399,NA19428,NA19445,NA19451,NA19452,NA19455,NA19457,NA19470,NA19625,NA19661,NA19662,NA19671,NA19675,NA19678,NA19680,NA19681,NA19683,NA19701,NA19704,NA19705,NA19723,NA19747,NA19748,NA19749,NA19751,NA19759,NA19770,NA19771,NA19772,NA19783,NA19790,NA19900,NA19901,NA19902,NA19904,NA20128,NA20294,NA20295,NA20341,NA20356,NA20358,NA20359,NA20360,NA20363,NA20364,NA20846,NA20849,NA20858,NA20866,NA20869,NA20876,NA20884,NA20888,NA20889,NA20892,NA20894,NA20903,NA20907,NA20909,NA20910,NA20911,NA21088,NA21100,NA21101,NA21104,NA21107,NA21125,NA21137,NA21333,NA21575,NA21580 esv29313 4 107159561 107162712 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18236 S 451 0 3 "" NA18861,NA19129,NA19240 nsv819910 4 107159681 107164961 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419698 S 2 0 1 "" AK1 nsv822679 4 107159885 107162345 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433605,nssv1425699,nssv1423347,nssv1437395,nssv1432787,nssv1425928,nssv1424927,nssv1425474,nssv1436560,nssv1438104,nssv1421655,nssv1439441 M 31 0 12 "" AK2,AK4,NA18526,NA18542,NA18547,NA18947,NA18949,NA18951,NA18968,NA18972,NA18997,NA18999 nsv442915 4 107162376 107165884 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2525124 4 107192297 107193815 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176358 S 1 0 1 TBCK NA18507 nsv511247 4 107242151 107284669 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624644 S 1 1 0 TBCK 1 nsv879701 4 107244225 107382577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500292 S 6533 0 1 TBCK SP50649 nsv4450 4 107257272 107302118 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4773,nssv7111 M 9 0 2 TBCK NA12156,NA19129 nsv508301 4 107268535 107312179 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618748,nssv622495 M 4 0 2 TBCK NA10860,NA18994 dgv97n17 4 107271556 107283796 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437410,nsv437409 M 60 0 2 TBCK NA18863,NA19139 nsv437411 4 107271556 107293546 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467292 S 60 0 1 Samples from several populations that are part of the HapMap project. TBCK NA19161 dgv890n67 4 107275887 107282753 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822681,nsv822680 M 31 0 14 TBCK AK10,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18566,NA18582,NA18592,NA18942,NA18969,NA18973,NA18999 nsv820470 4 107275887 107282929 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420435 S 1 0 1 TBCK NA10851 nsv819407 4 107275916 107283119 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419811 S 2 1 0 TBCK AK1 esv3779 4 107275973 107282873 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26220 S 1 0 1 Single Asian sample YH TBCK YH esv28666 4 107275979 107282771 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15361 S 451 39 0 TBCK NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv6293 4 107276019 107282853 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28734 S 1 0 1 TBCK SJK nsv499056 4 107276027 107282812 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585917 S 9 0 1 TBCK nsv514238 4 107276096 107279840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627679 S 1414 0 1 TBCK nsv514239 4 107279960 107282760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627680 S 1414 0 1 TBCK dgv5672n71 4 107285167 107394640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879702,nsv879703 M 6533 0 2 TBCK SP56004,SP57379 nsv879704 4 107315350 107432415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505564 S 6533 0 1 TBCK SP53687 esv268595 4 107367970 107368236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512578,essv2505363,essv2500927,essv2504700,essv2506915,essv2493523,essv2496949,essv2502158 M 157 8 0 Samples from several populations that are part of the HapMap project. TBCK NA18489,NA18853,NA18856,NA19099,NA19102,NA19137,NA19190,NA19257 nsv879705 4 107398575 107432415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504963 S 6533 0 1 TBCK SP52925 nsv830029 4 107422545 107572932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443898 S 95 1 0 AIMP1,LOC100507096,TBCK esv23259 4 107454255 107454790 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12978 S 451 0 1 TBCK NA18523 nsv292064 4 107539687 107539687 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310642 M 24 "" esv2578832 4 107638361 107639896 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224114 S 1 0 1 "" NA18507 esv1008609 4 107638820 107639818 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564847 S 3 0 1 "" HuRef esv1638661 4 107638955 107639264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886177 S 2 0 1 "" HuRef esv271418 4 107646569 107646654 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518748 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 esv2512315 4 107656651 107658316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234248 S 1 0 1 "" NA18507 esv3797 4 107656937 107658147 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26238 S 1 0 1 Single Asian sample YH "" YH esv2269047 4 107657042 107658084 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672606 S 1 0 1 "" NA18507 nsv879706 4 107697253 107766114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576184 S 6533 1 0 "" IS33894 esv8370 4 107728328 107728398 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30811 S 1 1 0 "" SJK nsv879707 4 107745625 107802630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565082 S 6533 0 1 "" IS30352 nsv879708 4 107775588 107860247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601183 S 6533 0 1 "" IS41982 nsv4451 4 107819406 107832830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3273 S 9 0 1 "" NA12878 esv23968 4 107823695 107828683 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15999 S 451 0 5 "" NA07045,NA11894,NA12749,NA12776,NA12878 nsv499057 4 107823745 107828707 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585918 S 9 0 1 "" nsv4452 4 107859653 107904319 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7985 S 9 0 1 "" NA12156 esv2752020 4 107861033 108106912 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982960,essv6988606,essv6982959,essv6982961 M 771 1 0 DKK2 BEC_529 esv1631246 4 107985306 107985306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810252 S 2 1 0 "" HuRef nsv291599 4 107985309 107989786 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310177 M 24 "" nsv4453 4 108045043 108075579 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv404 S 9 1 0 DKK2 NA19240 nsv879709 4 108070724 108194185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555492 S 6533 0 1 DKK2 MS21397 esv2446491 4 108193200 108194614 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278232 S 1 0 1 "" NA18507 esv2218273 4 108193604 108194122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733326 S 1 0 1 "" NA18507 esv3932 4 108193748 108194034 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26373 S 1 0 1 Single Asian sample YH "" YH esv996221 4 108193778 108193935 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574672 S 3 0 1 "" HuRef nsv289834 4 108193780 108193936 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308412 M 24 "" nsv436961 4 108279478 108300383 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466842 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10835 nsv10546 4 108282002 108295852 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12002 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 esv23089 4 108282901 108295489 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20097 S 451 0 1 "" NA11995 nsv514240 4 108285176 108294704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627682 S 1414 0 1 "" esv2421458 4 108285187 108295982 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5044765,essv5159175,essv5136603,essv5083856,essv5142919,essv5093069,essv5010946,essv5106854,essv5050317,essv5045911,essv5050791,essv5069788,essv5157086,essv5147181,essv5065156,essv5013854,essv5138761,essv5112259,essv5035572,essv5026118,essv5144882,essv5075051,essv5041144,essv5059788 M 1184 0 24 "" NA06993,NA07000,NA07029,NA10835,NA10850,NA11995,NA12146,NA12248,NA12282,NA12341,NA12813,NA12814,NA19684,NA19686,NA19777,NA20300,NA20506,NA20544,NA20586,NA20810,NA20818,NA20876,NA20879,NA21088 nsv441905 4 108285200 108294716 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv4455 4 108314748 108371619 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3274,nssv7112 M 9 0 2 "" NA12156,NA12878 nsv508302 4 108345855 108362626 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619940,nssv617495,nssv618749,nssv622496 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 dgv96n16 4 108346498 108352704 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435779,nsv436441 M 2 0 2 "" NA15510,NA18505 esv2646547 4 108346686 108351863 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381350 S 1 0 1 "" NA18507 esv999708 4 108346859 108351304 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563627 S 3 0 1 "" HuRef esv2414538 4 108347076 108351373 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551878 S 1 0 1 "" NA18507 nsv513158 4 108347110 108351166 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626653 S 1 0 1 "" 1 esv3005 4 108347217 108351293 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25446 S 1 0 1 Single Asian sample YH "" YH nsv499058 4 108347257 108351184 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585919 S 9 0 1 "" esv1156458 4 108347277 108351183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173849 S 2 0 1 "" HuRef nsv290974 4 108347278 108351183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309552 M 24 "" esv7224 4 108347282 108351162 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29665 S 1 0 1 "" SJK esv25613 4 108372188 108381676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20617 S 451 0 3 "" NA18858,NA19129,NA19225 nsv289936 4 108389473 108396439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308514 M 24 "" nsv437930 4 108412189 108426080 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468538,nssv468546,nssv468545,nssv468537,nssv468540,nssv468544,nssv468539,nssv468543,nssv468542,nssv468536 M 269 0 10 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505,NA18506,NA18507,NA18859,NA18860,NA19130,NA19132,NA19201,NA19202 nsv879710 4 108437611 108475812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596837,nssv1575439 M 6533 0 2 "" IS33747,IS40657 nsv879711 4 108460482 108575665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595847 S 6533 0 1 "" IS40345 esv996159 4 108494899 108499527 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564353 S 3 0 1 "" HuRef esv2616051 4 108495182 108499367 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324036 S 1 0 1 "" NA18507 nsv513159 4 108495655 108499035 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626655 S 1 0 1 "" 1 esv2195486 4 108495961 108499141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908374 S 1 0 1 "" NA18507 esv5251 4 108496114 108499030 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27692 S 1 0 1 Single Asian sample YH "" YH nsv499059 4 108496145 108498959 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585920 S 9 0 1 "" nsv293297 4 108496146 108498953 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311875 M 24 "" esv5846 4 108496149 108498976 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28287 S 1 0 1 "" SJK esv1520596 4 108496150 108498958 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954157 S 2 0 1 "" HuRef nsv507186 4 108632935 108638935 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617640,nssv620258 M 4 2 0 "" CHM,NA15510 nsv830030 4 108638896 108797097 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443899,nssv1443901,nssv1443900 M 95 0 3 PAPSS1 esv1348892 4 108696910 108696910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047669 S 2 1 0 "" HuRef nsv4456 4 108728739 108773494 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4774 S 9 0 1 PAPSS1 NA19129 esv27056 4 108730385 108734355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17653 S 451 0 3 "" NA06985,NA12287,NA12414 nsv442916 4 108731204 108733947 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv528356 4 108843108 108881251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704941 S 2026 0 1 PAPSS1 nsv879712 4 108858940 108945845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570405 S 6533 0 1 PAPSS1 IS31980 nsv830031 4 108865061 109024581 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443902 S 95 1 0 SGMS2 esv21916 4 109008349 109010433 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17087,esv18863 M 451 0 2 SGMS2 NA19114,NA19225 nsv461611 4 109038206 109106894 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537985 S 1557 0 1 CYP2U1,SGMS2 1782681102_A dgv5673n71 4 109045008 109109845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879714,nsv879713 M 6533 0 2 CYP2U1,SGMS2 MS20612,MS21163 nsv4457 4 109051548 109082451 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4775 S 9 1 0 CYP2U1,SGMS2 NA19129 dgv1658e1 4 109160623 109167540 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3665,esv1324 M 271 0 0 HADH NA18991 esv275379 4 109226732 109229195 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585711 S 1250 0 1 LEF1 nsv4458 4 109249181 109294153 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7986 S 9 0 1 LEF1 NA12156 nsv830032 4 109286717 109473917 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443903 S 95 1 0 LEF1,LOC641518 esv3479 4 109327057 109327746 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25920 S 1 0 1 Single Asian sample YH "" YH nsv289357 4 109327140 109327440 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307935 M 24 "" nsv461612 4 109421485 109462254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537986 S 1557 0 1 "" 1780854065_A nsv830033 4 109474544 109668156 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443904 S 95 0 1 "" esv270173 4 109484948 109485285 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506079,essv2499212 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19114 nsv436425 4 109494602 109501473 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466142 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1143954 4 109550350 109550350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312575 S 2 1 0 "" HuRef esv1498889 4 109550474 109550474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167830 S 2 1 0 "" HuRef esv23457 4 109566731 109568302 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14200 S 451 0 1 "" NA19108 esv275557 4 109605025 109623534 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585530,essv2585245 M 1250 1 1 "" nsv528900 4 109828989 109847474 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705584 S 2026 0 1 "" nsv879715 4 109828989 109993800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522531 S 6533 1 0 AGXT2L1,COL25A1 SP53240 nsv830034 4 109877140 110039174 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443905 S 95 0 1 AGXT2L1,COL25A1 nsv520874 4 109880164 109880353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697662 S 2026 0 1 "" nsv519226 4 109880164 109906763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696716 S 2026 0 1 AGXT2L1 nsv290185 4 109887735 109887845 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308763 M 24 AGXT2L1 esv991206 4 109887744 109887801 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567513 S 3 0 1 AGXT2L1 HuRef esv1523098 4 109887753 109887811 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3680226 S 2 0 1 AGXT2L1 HuRef dgv163n6 4 109887768 109887872 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290437,nsv289680 M 24 AGXT2L1 esv27335 4 109936294 109937153 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14737 S 451 0 1 "" NA18916 nsv513160 4 109939989 109941816 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626656 S 1 0 1 "" 1 esv1000196 4 109940079 109941363 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587062 S 3 1 0 "" HuRef esv29302 4 109940121 109941459 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14776 S 451 3 2 "" NA11993,NA12749,NA18502,NA18511,NA19114 nsv820949 4 109940121 109941459 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420437 S 1 0 1 "" NA10851 nsv822682 4 109940429 109941363 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435823,nssv1422555,nssv1429750,nssv1423350,nssv1426853,nssv1439452,nssv1428226,nssv1437397,nssv1433608,nssv1430532,nssv1440304,nssv1428999,nssv1431268,nssv1434369 M 31 14 0 "" AK10,AK12,AK14,AK16,AK18,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18592,NA18949,NA18999 nsv830035 4 110057731 110225206 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443906 S 95 1 0 COL25A1 nsv519227 4 110099725 110105816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696717 S 2026 0 1 COL25A1 nsv461613 4 110141513 110812909 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537987 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations 1/2-SBSRNA4,CCDC109B,COL25A1,SEC24B HGDP01041 esv7089 4 110141870 110141977 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29530 S 1 1 0 COL25A1 SJK esv259675 4 110141885 110142142 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400052,essv2399094,essv2395572,essv2398822,essv2394636,essv2398751,essv2398377,essv2400991,essv2396414 M 144 0 0 Samples from several populations that are part of the HapMap project. COL25A1 NA07051,NA10851,NA18501,NA18582,NA18870,NA19005,NA19093,NA19099,NA19138 esv8308 4 110141946 110142024 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30749 S 1 1 0 COL25A1 SJK esv7132 4 110142028 110142121 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29573 S 1 1 0 COL25A1 SJK nsv293715 4 110142029 110142029 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312293 M 24 COL25A1 esv5466 4 110142032 110142092 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27907 S 1 1 0 COL25A1 SJK esv26012 4 110163595 110164848 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14106,esv18291 M 451 0 10 COL25A1 NA11894,NA11993,NA12004,NA12749,NA18508,NA18511,NA18909,NA19099,NA19108,NA19114 esv2436931 4 110219784 110220809 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166271 S 1 1 0 COL25A1 NA18507 esv268533 4 110220366 110220494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495328,essv2510310,essv2495865,essv2508514,essv2500332,essv2502827,essv2494935,essv2508762,essv2500363,essv2503288,essv2494542,essv2494429,essv2507597,essv2508118,essv2493077,essv2495193,essv2505608 M 157 17 0 Samples from several populations that are part of the HapMap project. COL25A1 NA12287,NA12414,NA12489,NA12717,NA12891,NA12892,NA18520,NA18532,NA18537,NA18542,NA18550,NA18572,NA18576,NA18579,NA18951,NA18964,NA19005 esv273723 4 110220376 110220487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580587 S 7 1 0 Samples from several populations that are part of the HapMap project. COL25A1 NA19238 esv275332 4 110236631 110239602 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585959 S 1250 0 1 COL25A1 esv269886 4 110357576 110357847 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498356,essv2507889,essv2495986 M 157 3 0 Samples from several populations that are part of the HapMap project. COL25A1 NA18526,NA18564,NA18961 nsv461614 4 110384883 110439833 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537988 S 1557 0 1 COL25A1 1780854538_A nsv4459 4 110386316 110415626 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2476 S 9 1 0 COL25A1 NA18555 nsv515893 4 110442294 110474290 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672633,nssv672187,nssv680719,nssv665176 M 2026 0 4 COL25A1 nsv4460 4 110462803 110474800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4776 S 9 1 0 "" NA19129 esv1003719 4 110464378 110468016 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563996 S 3 1 0 "" HuRef nsv4461 4 110542418 110576349 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7987 S 9 1 0 1/2-SBSRNA4,SEC24B NA12156 esv24031 4 110574052 110575096 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18036 S 451 0 1 1/2-SBSRNA4,SEC24B NA07045 nsv525385 4 110614595 110685862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701507 S 2026 0 1 SEC24B nsv292772 4 110617257 110617257 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311350 M 24 SEC24B esv270668 4 110630040 110630170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504155,essv2508975,essv2505686,essv2509204 M 157 4 0 Samples from several populations that are part of the HapMap project. SEC24B NA18505,NA18522,NA18861,NA18909 nsv4462 4 110657924 110692085 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7988 S 9 1 0 SEC24B NA12156 esv2518482 4 110717350 110719005 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228826 S 1 0 1 CCDC109B NA18507 esv2350206 4 110717998 110718721 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667618 S 1 0 1 CCDC109B NA18507 esv3474 4 110718143 110718564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25915 S 1 0 1 Single Asian sample YH CCDC109B YH nsv292142 4 110718190 110718514 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310720 M 24 CCDC109B esv7767 4 110718202 110718518 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30208 S 1 0 1 CCDC109B SJK nsv822683 4 110789395 110790245 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438105 S 31 1 0 CCDC109B NA18951 nsv508303 4 110798754 110823901 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617496 S 4 0 1 CCDC109B CHM esv272340 4 110821119 110821204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581220 S 7 1 0 Samples from several populations that are part of the HapMap project. CCDC109B NA19240 nsv4463 4 110867180 110912574 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7113 S 9 0 1 CFI,PLA2G12A NA12156 esv1651639 4 110894136 110894211 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341275 S 2 0 1 CFI HuRef esv26742 4 110909600 110910247 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17199 S 451 2 0 CFI NA11894,NA18523 nsv290561 4 110967910 110967975 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309139 M 24 "" nsv290769 4 111060190 111065187 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309347 M 24 EGF esv22936 4 111060203 111065206 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9973 S 451 0 2 EGF NA11993,NA18517 esv2618042 4 111061401 111062347 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294782 S 1 1 0 EGF NA18507 nsv820232 4 111101573 111102547 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419141 S 2 0 1 EGF AK1 esv270907 4 111154380 111154638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510120,essv2513231,essv2508793,essv2502794,essv2500416,essv2497327,essv2507867,essv2511314,essv2494462,essv2512727,essv2508704,essv2507088,essv2500585,essv2495981,essv2495221,essv2502604,essv2500705,essv2499767,essv2503890 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11829,NA12249,NA12878,NA12892,NA18537,NA18545,NA18564,NA18570,NA18572,NA18577,NA18592,NA18870,NA18956,NA18961,NA18964,NA18965,NA18973,NA19225 esv273831 4 111154394 111154561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581738,essv2583086 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 dgv98n17 4 111214666 111226234 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437414,nsv437412 M 60 0 2 ELOVL6 NA18854,NA18857 esv22044 4 111223489 111224439 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14346 S 451 0 1 ELOVL6 NA19129 esv1003394 4 111224571 111224571 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566405 S 3 1 0 ELOVL6 HuRef esv1138951 4 111224585 111224585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811469 S 2 1 0 ELOVL6 HuRef nsv290523 4 111282318 111282471 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309101 M 24 ELOVL6 nsv290442 4 111367384 111368099 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309020 M 24 "" esv2595046 4 111374190 111374289 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206936 S 1 0 1 "" NA18507 nsv822684 4 111377306 111380129 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426978,nssv1438106 M 31 0 2 "" NA18592,NA18951 esv28675 4 111516148 111520999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10010 S 451 0 1 "" NA18907 esv2422130 4 111517080 111519963 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5039370,essv5008595,essv5019472,essv5034714,essv5127665,essv5109194,essv5010638,essv5141235,essv5123363,essv5052809,essv5102163,essv5113510,essv5085083,essv5125876,essv5012921,essv5160983,essv5148201,essv5110972,essv5045422,essv5004318,essv5109045,essv5075790,essv5080018,essv5103444,essv5121135 M 1184 0 25 "" NA18499,NA18923,NA19141,NA19222,NA19223,NA19317,NA19373,NA19374,NA19379,NA19399,NA19437,NA19449,NA19467,NA19701,NA19704,NA19921,NA20801,NA21316,NA21317,NA21318,NA21420,NA21479,NA21480,NA21519,NA21685 nsv441906 4 111517080 111519963 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514241 4 111517632 111518976 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627683 S 1414 0 1 "" nsv879716 4 111525712 111553050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507212 S 6533 1 0 "" SP54490 esv2452324 4 111602000 111603712 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171189 S 1 0 1 "" NA18507 esv2169714 4 111602458 111603162 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622738 S 1 0 1 "" NA18507 esv3522 4 111602579 111603069 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25963 S 1 0 1 Single Asian sample YH "" YH esv7479 4 111602644 111602982 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29920 S 1 0 1 "" SJK dgv164n6 4 111602650 111602983 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292316,nsv293374 M 24 "" esv1151604 4 111602651 111602983 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287762 S 2 0 1 "" HuRef nsv830036 4 111625951 111815178 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443908 S 95 1 0 ENPEP,PITX2 nsv507187 4 111639874 111645874 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621759 S 4 1 0 ENPEP NA10860 nsv518506 4 111674080 111716293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695947 S 2026 0 1 ENPEP nsv4464 4 111732908 111766569 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3275 S 9 1 0 PITX2 NA12878 esv2453259 4 111735250 111736605 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274103 S 1 0 1 "" NA18507 esv2057588 4 111735616 111736159 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4767052 S 1 0 1 "" NA18507 esv4886 4 111735730 111736076 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27327 S 1 0 1 Single Asian sample YH "" YH esv1102093 4 111735770 111735960 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691518 S 2 0 1 "" HuRef nsv289994 4 111735771 111735960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308572 M 24 "" nsv292028 4 111778901 111778960 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310606 M 24 PITX2 nsv461618 4 111786326 111802783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537992 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00464 nsv4466 4 111787309 111806846 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv405 S 9 1 0 "" NA19240 esv268781 4 111803519 111805719 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513677 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv289640 4 111932060 111938072 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308218 M 24 "" nsv4467 4 111942077 111972838 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10418 S 9 1 0 "" NA18956 esv2303942 4 112024127 112024798 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869506 S 1 0 1 "" NA18507 esv2654438 4 112027208 112028872 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359184 S 1 0 1 "" NA18507 esv2324114 4 112028015 112028726 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780721 S 1 0 1 "" NA18507 esv5380 4 112028124 112028575 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27821 S 1 0 1 Single Asian sample YH "" YH dgv165n6 4 112028200 112028527 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290632,nsv290486 M 24 "" esv6743 4 112028205 112028506 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29184 S 1 0 1 "" SJK esv993273 4 112028210 112028518 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582938 S 3 0 1 "" HuRef esv1744851 4 112028218 112028527 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275555 S 2 0 1 "" HuRef esv268557 4 112082520 112082605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513966 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv990177 4 112152246 112152246 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576831 S 3 1 0 "" HuRef esv1515699 4 112152314 112152314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804804 S 2 1 0 "" HuRef nsv437415 4 112192898 112205630 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467296 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19103 nsv879717 4 112204503 112412800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526806,nssv1520670 M 6533 2 0 "" SP51203,SP57831 esv272325 4 112209145 112209263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578867,essv2579461 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv7656 4 112227293 112227669 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30097 S 1 0 0 "" SJK nsv507188 4 112253874 112259874 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620259 S 4 1 0 "" NA15510 nsv293078 4 112394576 112400035 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311656 M 24 "" nsv291864 4 112400070 112400245 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310442 M 24 "" nsv509921 4 112420711 112426711 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622063,nssv623952 M 4 0 2 "" NA10860,NA18994 dgv5674n71 4 112445537 112517620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879719,nsv879718 M 6533 0 3 "" IS31179,IS39718,MS22863 esv24896 4 112456179 112462075 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10042 S 451 0 4 "" NA06985,NA11931,NA11995,NA12156 nsv879720 4 112466012 112516864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574265 S 6533 0 1 "" IS33533 dgv326n21 4 112476729 112484886 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518719,nsv525551 M 2026 0 2 "" nsv524735 4 112483939 112508584 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700726 S 2026 0 1 "" nsv879721 4 112484886 112518675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597881 S 6533 0 1 "" IS41043 nsv437416 4 112511320 112531739 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467297 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv524823 4 112512608 112516864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700818 S 2026 0 1 "" esv2609738 4 112515950 112528675 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294497 S 1 0 1 "" NA18507 esv2634802 4 112516007 112529523 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296742 S 1 0 1 "" NA18507 nsv10547 4 112516403 112527875 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12721 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2028326 4 112516582 112529239 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666641 S 1 0 1 "" NA18507 esv23685 4 112516780 112528954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15327 S 451 0 2 "" NA19114,NA19240 nsv514242 4 112516840 112525840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627684 S 1414 0 1 "" esv2421797 4 112516864 112529063 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018019,essv5070518,essv5025145,essv5034459,essv5031139,essv5034787,essv5153829,essv5157782,essv5158449,essv5107738,essv5017972,essv5061896,essv5031944,essv5135364,essv5138026,essv5152716,essv5138198,essv5070470,essv5148129,essv5015532,essv5054031,essv5031122,essv5054546,essv5120356,essv5021151,essv5015964,essv5059932,essv5139272,essv5134467,essv5050884,essv5105769,essv5013913,essv5072610,essv5115469,essv5134469,essv5068022,essv5158839,essv5094770 M 1184 0 38 "" NA18506,NA18507,NA18912,NA18923,NA19114,NA19115,NA19131,NA19141,NA19143,NA19214,NA19215,NA19222,NA19238,NA19240,NA19311,NA19317,NA19346,NA19373,NA19383,NA19398,NA19399,NA19438,NA19439,NA19445,NA19449,NA19467,NA19701,NA19704,NA19705,NA20322,NA21355,NA21415,NA21486,NA21487,NA21513,NA21514,NA21613,NA21616 nsv442917 4 112516868 112525864 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv879722 4 112541371 112681907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544605 S 6533 0 1 "" MS16398 esv275300 4 112679690 112687919 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586173 S 1250 0 1 "" nsv509922 4 112754463 112760463 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622064,nssv618180,nssv621241,nssv623953 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv289862 4 112769125 112774095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308440 M 24 "" esv2561647 4 112802693 112803692 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212144 S 1 1 0 "" NA18507 nsv4468 4 112830348 112864525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3136,nssv7989 M 9 2 0 "" NA12156,NA18555 nsv509014 4 112840991 112852693 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619381 S 4 1 0 "" NA10860 esv998880 4 112847554 112848761 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563629 S 3 1 0 "" HuRef esv268925 4 112848386 112848471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517495,essv2514201,essv2514801,essv2515401,essv2515789,essv2517944,essv2518276,essv2519357 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11918,NA12043,NA12234,NA12249,NA12815,NA12872,NA19240 esv274122 4 112848386 112848471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581067 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv289828 4 112855622 112855823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308406 M 24 "" nsv514243 4 112896232 112900064 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627685 S 1414 0 1 "" esv2421965 4 112896236 112900044 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5048814,essv5133643,essv5063700,essv5051072,essv5142967,essv5029870,essv5112320,essv5105160,essv5047416,essv5011083,essv5102445,essv5130830,essv5157551 M 1184 0 13 "" NA18912,NA19143,NA19146,NA19214,NA19215,NA19247,NA19249,NA19439,NA19776,NA20322,NA21115,NA21387,NA21389 nsv441907 4 112896236 112900044 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2430944 4 112917555 112918495 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328263 S 1 1 0 "" NA18507 esv273190 4 112917853 112918186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583123,essv2584390,essv2583808 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 esv268423 4 112917856 112918189 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557835,essv2576069,essv2521204,essv2526192,essv2542390,essv2543846,essv2556536,essv2545280,essv2532019,essv2577443,essv2548406,essv2521636,essv2576787,essv2525491,essv2550257,essv2535062,essv2552148,essv2547551,essv2529100,essv2558409,essv2578012,essv2553635,essv2520225,essv2530810,essv2547044,essv2540132,essv2520825,essv2557331,essv2532177,essv2562591,essv2578584,essv2550027,essv2558917,essv2537074,essv2527324,essv2562962,essv2523629,essv2552880,essv2541243,essv2524549,essv2565065,essv2561180,essv2539618,essv2549315,essv2519875,essv2521939,essv2532470,essv2567696,essv2528676,essv2567521,essv2541791,essv2570343,essv2535660,essv2572523,essv2559299,essv2566777,essv2542046,essv2551185,essv2568982,essv2527955,essv2534043,essv2578292,essv2573083,essv2555631,essv2566685,essv2527690,essv2534236,essv2522375,essv2577116,essv2572033,essv2525639,essv2529597,essv2526615,essv2560568,essv2549973,essv2571427,essv2574078,essv2551310,essv2554719,essv2547863,essv2563153 M 157 81 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA10851,NA11830,NA11894,NA11918,NA11919,NA11992,NA11994,NA12003,NA12006,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12489,NA12717,NA12749,NA12750,NA12761,NA12763,NA12815,NA12873,NA12892,NA18489,NA18498,NA18499,NA18505,NA18507,NA18510,NA18511,NA18516,NA18517,NA18522,NA18532,NA18537,NA18542,NA18545,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18907,NA18916,NA18940,NA18942,NA18945,NA18948,NA18952,NA18959,NA18960,NA18970,NA18973,NA18980,NA19093,NA19114,NA19116,NA19225,NA19238,NA19240,NA19257 nsv290903 4 112917874 112917874 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309481 M 24 "" nsv4469 4 112928536 112959481 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10419 S 9 1 0 "" NA18956 esv2604617 4 113180512 113181829 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221798 S 1 0 1 "" NA18507 nsv508305 4 113246838 113263901 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622497 S 4 0 1 "" NA18994 esv26687 4 113450334 113451640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17930 S 451 0 1 ALPK1 NA19147 nsv4470 4 113473168 113506491 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv406 S 9 1 0 ALPK1 NA19240 esv2152267 4 113567781 113568191 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4773668 S 1 0 1 ALPK1 NA18507 esv994179 4 113567955 113568017 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568283 S 3 0 1 ALPK1 HuRef nsv291215 4 113567957 113568018 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309793 M 24 ALPK1 esv2636867 4 113687936 113689296 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377841 S 1 0 1 C4orf21 NA18507 esv2336561 4 113689250 113689937 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607392 S 1 0 1 C4orf21 NA18507 esv4913 4 113689381 113689783 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27354 S 1 0 1 Single Asian sample YH C4orf21 YH esv9284 4 113689422 113689727 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31725 S 1 0 1 C4orf21 SJK dgv166n6 4 113689424 113689745 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292825,nsv290102 M 24 C4orf21 esv1002020 4 113689429 113689735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573155 S 3 0 1 C4orf21 HuRef nsv4471 4 113713747 113746357 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2477 S 9 0 1 C4orf21 NA18555 nsv435781 4 113714598 113720871 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466143 S 2 0 1 C4orf21 NA15510 esv1001738 4 113716074 113722207 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564672 S 3 0 1 C4orf21 HuRef nsv513161 4 113717518 113722413 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626657 S 1 0 1 C4orf21 1 nsv499060 4 113717657 113720687 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585921 S 9 0 1 C4orf21 nsv525715 4 113756195 113798058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701877 S 2026 0 1 C4orf21,LARP7,MIR302A,MIR302B,MIR302C,MIR302D,MIR367 nsv291420 4 113824581 113824581 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309998 M 24 "" nsv520766 4 113873366 113883554 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675129,nssv688371 M 2026 0 2 "" nsv518022 4 113899363 113914210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695432 S 2026 0 1 "" nsv879723 4 113899363 114017435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583200 S 6533 0 1 ANK2 IS36320 nsv4472 4 113901235 113920317 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7990 S 9 0 1 "" NA12156 nsv519387 4 113919598 113936753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696826 S 2026 0 1 "" nsv4473 4 114012044 114047345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv407 S 9 1 0 ANK2 NA19240 esv275309 4 114085522 114086098 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586021,essv2585247 M 1250 1 1 ANK2 nsv516249 4 114137135 114137192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663629,nssv663415,nssv654905,nssv693724,nssv667229,nssv678198,nssv683402,nssv667070,nssv655776 M 2026 0 9 ANK2 nsv518231 4 114137135 114137231 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694214 S 2026 1 0 ANK2 nsv521029 4 114137135 114137231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697743 S 2026 0 1 ANK2 esv2428650 4 114204886 114206367 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250605 S 1 0 1 ANK2 NA18507 esv2058983 4 114205253 114205915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661397 S 1 0 1 ANK2 NA18507 esv989156 4 114205324 114205752 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584921 S 3 0 1 ANK2 HuRef nsv879724 4 114210589 114236427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568119 S 6533 0 1 ANK2 IS31205 esv2642980 4 114237024 114237992 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205560 S 1 1 0 ANK2 NA18507 esv272533 4 114237669 114237900 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580299,essv2579859 M 7 2 0 Samples from several populations that are part of the HapMap project. ANK2 NA12891,NA12892 esv268511 4 114237680 114238011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571813,essv2546213,essv2526230,essv2542352,essv2536553,essv2522848,essv2544098,essv2570775,essv2556564,essv2545398,essv2523334,essv2531706,essv2570507,essv2576625,essv2550411,essv2535124,essv2544334,essv2552204,essv2520726,essv2558373,essv2553546,essv2559568,essv2576306,essv2564009,essv2528239,essv2530476,essv2540063,essv2520820,essv2557434,essv2556826,essv2552326,essv2551795,essv2532312,essv2562548,essv2569371,essv2578700,essv2558817,essv2536832,essv2538935,essv2569841,essv2561455,essv2544643,essv2562975,essv2523626,essv2552931,essv2541234,essv2538226,essv2542828,essv2524319,essv2564997,essv2534867,essv2560967,essv2539781,essv2549185,essv2519672,essv2559830,essv2522003,essv2566177,essv2531220,essv2532781,essv2567735,essv2528694,essv2567500,essv2541546,essv2569971,essv2553184,essv2535695,essv2572501,essv2559320,essv2542175,essv2550928,essv2569060,essv2543666,essv2556143,essv2527796,essv2562460,essv2573114,essv2555277,essv2533619,essv2555622,essv2567178,essv2566568,essv2529991,essv2573920,essv2527590,essv2555951,essv2522318,essv2531409,essv2573502,essv2543399,essv2571853,essv2526924,essv2529683,essv2575544,essv2538723,essv2526563,essv2523961,essv2574902,essv2572919,essv2568554,essv2560239,essv2548161,essv2571551,essv2545982,essv2574198,essv2551216,essv2548709,essv2563161 M 157 108 0 Samples from several populations that are part of the HapMap project. ANK2 NA07037,NA10847,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12044,NA12154,NA12234,NA12249,NA12414,NA12489,NA12716,NA12750,NA12763,NA12776,NA12814,NA12828,NA12891,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA19005,NA19093,NA19099,NA19108,NA19114,NA19129,NA19138,NA19143,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 nsv879725 4 114243541 114358877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584021 S 6533 0 1 ANK2,MIR1243 IS36787 nsv290373 4 114283888 114283888 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308951 M 24 ANK2 esv1008929 4 114283889 114283889 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573175 S 3 1 0 ANK2 HuRef esv1161672 4 114283890 114283890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805006 S 2 1 0 ANK2 HuRef nsv292421 4 114283891 114283891 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310999 M 24 ANK2 nsv879726 4 114311766 114411942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593618 S 6533 0 1 ANK2 IS39464 nsv508306 4 114335517 114346699 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618750 S 4 0 1 ANK2 NA10860 esv26700 4 114348706 114350532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13616 S 451 0 2 ANK2 NA18517,NA19099 nsv822685 4 114359655 114360864 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434370 S 31 1 0 ANK2 NA18570 nsv822687 4 114360064 114361145 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425940 S 31 1 0 ANK2 NA18947 nsv830038 4 114430462 114611300 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443909 S 95 1 0 ANK2,CAMK2D esv2161780 4 114475080 114475529 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811889 S 1 0 1 ANK2 NA18507 dgv167n6 4 114475122 114475307 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291235,nsv291603 M 24 ANK2 esv1571569 4 114475250 114475343 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815673 S 2 0 1 ANK2 HuRef dgv1659e1 4 114573691 114581335 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18003,esv1067 M 271 0 0 "" NA12005 esv34797 4 114573691 114581335 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978604,essv6978603 M 771 0 1 "" NA12005 esv270214 4 114641879 114642158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548431,essv2544767,essv2523892,essv2541126,essv2540411,essv2560975,essv2549463,essv2567760,essv2528922,essv2567588,essv2559356,essv2555526,essv2567234,essv2566632,essv2573583,essv2577021,essv2524780 M 157 17 0 Samples from several populations that are part of the HapMap project. CAMK2D NA07357,NA12045,NA18526,NA18537,NA18545,NA18552,NA18562,NA18564,NA18577,NA18579,NA18582,NA18638,NA18945,NA18947,NA18948,NA18964,NA18970 esv260045 4 114699098 114699440 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395090,essv2400066,essv2400975,essv2395173 M 144 0 0 Samples from several populations that are part of the HapMap project. CAMK2D NA18486,NA18861,NA19099,NA19108 nsv4474 4 114700397 114722981 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7114 S 9 1 0 CAMK2D NA12156 nsv4475 4 114809048 114851330 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7991 S 9 0 1 CAMK2D NA12156 nsv507189 4 114835560 114841560 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620260 S 4 1 0 CAMK2D NA15510 nsv525087 4 114881130 115530933 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701145 S 2026 1 0 ARSJ,CAMK2D esv2513167 4 115016992 115018498 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382191 S 1 0 1 "" NA18507 esv2320119 4 115042287 115042718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935610 S 1 0 1 ARSJ NA18507 nsv524515 4 115058719 115841756 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700460 S 2026 1 0 ARSJ,MIR577,UGT8 dgv1660e1 4 115226569 115394673 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10021,essv16968,essv11161,essv17299,essv14449,essv11553,essv11740,esv142,essv13907,essv17143,essv16295,essv14767 M 271 0 0 "" NA18504,NA18854,NA18856,NA19099,NA19144,NA19159,NA19161,NA19171,NA19173,NA19201,NA19211 nsv428448 4 115226569 115648278 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454573,nssv454577,nssv454575,nssv454578,nssv454574,nssv454579 M 62 6 0 "" HGDP01093,HGDP01094,NA19113,NA19147,NA19181,NA19189 esv269260 4 115232366 115232714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519117,essv2513784 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19143 nsv879727 4 115238745 115320948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555361,nssv1537237 M 6533 0 2 "" MS13131,MS21294 dgv327n21 4 115320948 115446664 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521597,nsv528727 M 2026 2 0 "" esv269998 4 115352117 115352202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514850,essv2515473,essv2518435 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12249,NA12287 nsv293765 4 115366441 115366665 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312343 M 24 "" nsv290539 4 115366929 115366929 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309117 M 24 "" esv2460024 4 115371250 115372185 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316161 S 1 1 0 "" NA18507 esv1230036 4 115371600 115371600 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804593 S 2 1 0 "" HuRef nsv509923 4 115388250 115394250 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618181,nssv623954 M 4 0 2 "" CHM,NA18994 dgv99n17 4 115390699 115405307 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437418,nsv437417 M 60 0 2 "" NA19100,NA19221 nsv4477 4 115391467 115424159 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv408,nssv2478,nssv9400,nssv4778 M 9 0 4 "" NA18517,NA18555,NA19129,NA19240 nsv10548 4 115391860 115404953 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13527,nssv12076,nssv12260,nssv12751,nssv29137,nssv12839,nssv11987,nssv14033,nssv11955,nssv13693,nssv11561,nssv12573,nssv12388,nssv12266,nssv12384,nssv13281,nssv12514,nssv12032,nssv13358 M 31 11 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA12155,NA12802,NA12872,NA18504,NA18537,NA18552,NA18563,NA18853,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19240 nsv819546 4 115392078 115403394 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418607 S 2 1 0 "" AK1 nsv511269 4 115392116 115405307 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624888 S 1 1 0 "" 1 nsv821440 4 115393771 115403784 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420438 S 1 0 1 "" NA10851 nsv822688 4 115393771 115403784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433609,nssv1427101,nssv1435034,nssv1434371,nssv1439463,nssv1421656,nssv1424931,nssv1437398,nssv1431269,nssv1429000,nssv1440305,nssv1423351 M 31 0 12 "" AK12,AK18,AK2,NA18526,NA18547,NA18564,NA18570,NA18592,NA18942,NA18949,NA18997,NA18999 esv2467996 4 115393904 115403856 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371409 S 1 0 1 "" NA18507 esv991298 4 115394297 115403635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565468 S 3 0 1 "" HuRef esv1982639 4 115394433 115403443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503275 S 1 0 1 "" NA18507 esv22102 4 115394549 115403611 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13425,esv15751 M 451 19 4 "" NA06985,NA07045,NA11931,NA12004,NA12239,NA12287,NA12489,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19240,NA19257 nsv499061 4 115394574 115403288 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585922 S 9 0 1 "" esv2570041 4 115394667 115404882 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309066 S 1 0 1 "" NA18507 nsv442918 4 115394772 115401624 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422148 4 115394772 115401739 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046563,essv5036857,essv5082356,essv5020249,essv5103719,essv5012752,essv5009198,essv5084240,essv5140996,essv5130390,essv5126721,essv5031989,essv5161146,essv5156268,essv5064049,essv5096038,essv5037420,essv5030321,essv5044297,essv5130563,essv5093962,essv5023914,essv5153402,essv5039392,essv5027759,essv5016120,essv5042375,essv5109522,essv5078548,essv5034136,essv5106316,essv5009783,essv5085566,essv5126451,essv5143704,essv5118390,essv5046727,essv5129531,essv5042558,essv5050603,essv5123386,essv5107920,essv5023179,essv5100958,essv5084738,essv5113830,essv5152367,essv5070508,essv5109368,essv5016205,essv5141043,essv5111930,essv5151457,essv5116870,essv5114536,essv5012553,essv5042085,essv5091702,essv5119767,essv5104923,essv5105962,essv5091297,essv5126319,essv5076941,essv5112743,essv5142961,essv5072907,essv5110051,essv5089006,essv5131451,essv5135195,essv5157163,essv5052667,essv5150627,essv5132036,essv5076931,essv5155418,essv5157830,essv5027930,essv5018006,essv5082894,essv5118640,essv5128061,essv5019988,essv5143585,essv5149610,essv5056464,essv5037123,essv5076658,essv5044082,essv5011146,essv5082770,essv5152532,essv5148594,essv5148229,essv5015853,essv5146341,essv5075121,essv5002445,essv5079292,essv5051051,essv5105601,essv5100138,essv5141160,essv5101795,essv5052892,essv5038704,essv5120997,essv5072637,essv5081109,essv5041784,essv5029987,essv5054865,essv5013181,essv5139521,essv5098057,essv5128247,essv5084184,essv5047534,essv5158233,essv5159023,essv5145510,essv5132726,essv5010983,essv5119367,essv5073137,essv5063180,essv5101830,essv5011743,essv5079697,essv5154391,essv5021253,essv5021091,essv5034059,essv5065191,essv5147920,essv5111225,essv5051830,essv5076777,essv5011515,essv5149210,essv5039787,essv5112127,essv5109268,essv5104290,essv5078488,essv5077864,essv5069621,essv5115365,essv5060140,essv5134470,essv5125724,essv5041374,essv5135915,essv5104411,essv5156788,essv5148682,essv5145529,essv5058222,essv5101351,essv5124191,essv5070042,essv5138552,essv5080165,essv5134919,essv5069797,essv5075091,essv5064666,essv5010025,essv5151711,essv5090224,essv5086154,essv5012582,essv5031045,essv5083004,essv5148362,essv5100793,essv5039762,essv5124449,essv5137871,essv5020349,essv5008457,essv5003446,essv5129444,essv5103979,essv5018882,essv5047521,essv5046145,essv5092286,essv5016221,essv5046939,essv5070850,essv5127612,essv5161160,essv5074528,essv5129777,essv5004371,essv5053614,essv5103428,essv5067247,essv5010757,essv5053050,essv5042243,essv5120357,essv5061402,essv5063335,essv5101967,essv5078583,essv5023323,essv5124625,essv5136725,essv5156520,essv5093112,essv5123082,essv5151675,essv5029036,essv5058205,essv5139879,essv5114663,essv5106331,essv5052194,essv5056238,essv5119947,essv5103235,essv5148184,essv5017704,essv5081256,essv5055263,essv5087891,essv5103086,essv5008688,essv5102205,essv5054820,essv5109883,essv5090133,essv5149165,essv5051539,essv5031437,essv5025521,essv5105191,essv5015085,essv5076934,essv5008985,essv5151132,essv5152680,essv5040447,essv5099859,essv5118588,essv5110933,essv5053301,essv5068231,essv5126464,essv5160596,essv5128866,essv5144457,essv5137121,essv5062350,essv5129172,essv5068810,essv5126592,essv5058667,essv5070546,essv5073194,essv5149155,essv5114595,essv5114552,essv5021746,essv5135461,essv5149672,essv5059255,essv5120913,essv5136838,essv5104394,essv5158510,essv5071043,essv5133568,essv5113312,essv5042784,essv5110483,essv5021250,essv5071536,essv5140311,essv5026441,essv5034355,essv5059457,essv5117601,essv5008731,essv5091079,essv5086039,essv5094215,essv5140448,essv5128231,essv5054250,essv5078562,essv5108500,essv5078839,essv5005739,essv5141765,essv5069242,essv5111379,essv5126821,essv5017830,essv5012515,essv5091138,essv5092000,essv5131816,essv5140395,essv5129052,essv5157081,essv5140384,essv5133201,essv5127840,essv5109303,essv5047931,essv5098622,essv5062803,essv5043501,essv5101589,essv5147322,essv5134570,essv5117885,essv5018927,essv5137516,essv5066890,essv5079741,essv5064941,essv5115397,essv5055327,essv5052582,essv5146190,essv5018975,essv5055284,essv5102462,essv5125278,essv5083412,essv5063412,essv5011742,essv5024832,essv5156211,essv5117071,essv5047910,essv5138924,essv5100881,essv5156797,essv5117138,essv5007032,essv5071266,essv5158894,essv5112372,essv5048594,essv5131937,essv5074391,essv5153608,essv5140646,essv5151328,essv5093120,essv5075113,essv5101782,essv5129650,essv5106173,essv5093747,essv5122434,essv5080587,essv5152115,essv5080402,essv5041098,essv5097569,essv5151247,essv5023451,essv5053022,essv5078153,essv5154501,essv5072546,essv5077195,essv5112181,essv5077392,essv5041096,essv5086336,essv5017055,essv5081131,essv5145923,essv5006515,essv5111847,essv5021245,essv5085964,essv5016439,essv5010018,essv5069161,essv5104403,essv5004901,essv5041433,essv5070183,essv5147718,essv5096521,essv5095732,essv5063792,essv5030645,essv5070569,essv5048711,essv5144562,essv5007211,essv5153114,essv5105328,essv5044978,essv5068006,essv5034117,essv5049467,essv5003612,essv5129094,essv5001927,essv5061128,essv5099016,essv5034844,essv5078094,essv5093025,essv5040524,essv5115743,essv5121381,essv5076623,essv5071664,essv5150651,essv5056812,essv5075346,essv5042408,essv5008931,essv5136431,essv5103335,essv5145459,essv5132101,essv5074151,essv5092207,essv5139957,essv5103634,essv5145146,essv5032091,essv5088016,essv5044271,essv5019801,essv5027000,essv5050123,essv5157333,essv5026354,essv5118657,essv5097896,essv5102919,essv5089471,essv5076905,essv5156289,essv5023210,essv5005375,essv5040204,essv5079341,essv5093503,essv5120567,essv5067629,essv5053694,essv5113432,essv5155763,essv5047352,essv5123096,essv5043080,essv5148584,essv5099824,essv5002343,essv5144515,essv5027993,essv5008387,essv5049866,essv5045615,essv5093643,essv5019458,essv5051965,essv5091239,essv5047474,essv5066587,essv5155502,essv5023241,essv5016664,essv5156584,essv5005195,essv5107520,essv5008446,essv5066697,essv5041276,essv5073864,essv5017111,essv5143694,essv5004442,essv5120119,essv5071382,essv5006045,essv5105100,essv5069271,essv5142414,essv5056394,essv5152395,essv5092528,essv5076558,essv5079916,essv5022585,essv5103171,essv5129274,essv5083224,essv5057907,essv5014730,essv5158465,essv5052387,essv5127324,essv5021521,essv5062725,essv5065279,essv5140667,essv5111690,essv5009102,essv5101995,essv5096605,essv5042261,essv5085172,essv5023631,essv5126075,essv5155349,essv5118267,essv5044181,essv5020965,essv5096110,essv5062460,essv5041443,essv5004941,essv5161072,essv5142051,essv5053039,essv5134008,essv5032351,essv5037299,essv5122578,essv5135584,essv5124986,essv5005288,essv5093176,essv5026872,essv5064746,essv5093353,essv5022007,essv5062087,essv5087370,essv5017885,essv5078478,essv5112321,essv5141869,essv5134045,essv5004611,essv5143151,essv5076059,essv5020562,essv5065244,essv5021169,essv5144664,essv5103439,essv5088489,essv5086934,essv5078119,essv5095608,essv5082686,essv5137922,essv5133404,essv5016181,essv5137371,essv5019830,essv5040171,essv5023107,essv5056430,essv5111598,essv5048169,essv5051266,essv5045101,essv5037971,essv5034684,essv5074413,essv5024038,essv5010062,essv5062746,essv5144611,essv5124438,essv5025061,essv5086000,essv5089215,essv5101610,essv5025224,essv5149206,essv5005213,essv5070072,essv5114999,essv5018917,essv5038497,essv5149990,essv5059469,essv5028204,essv5160915,essv5025590,essv5078923,essv5009353,essv5011110,essv5090901,essv5038131,essv5058477,essv5080198,essv5018345,essv5118880,essv5139095,essv5023801,essv5090318,essv5116127,essv5035305,essv5003554,essv5149084,essv5061635,essv5158753,essv5015238,essv5034139,essv5014294,essv5038973,essv5114676,essv5057436,essv5087149,essv5092436,essv5071298,essv5026147,essv5059598,essv5017990,essv5143446,essv5028333,essv5073122,essv5113914,essv5070475,essv5145043,essv5158820,essv5055777,essv5067991,essv5032935,essv5112248,essv5110247,essv5084402,essv5093805,essv5040156,essv5029271,essv5104083,essv5053148,essv5039695,essv5025796,essv5110148,essv5087368,essv5158406,essv5132918,essv5040992,essv5042639,essv5130967,essv5057353,essv5069353,essv5103366,essv5007739,essv5092469,essv5153463,essv5017905,essv5150023,essv5030323,essv5159708,essv5124947,essv5095831,essv5090505,essv5112878,essv5100046,essv5051886,essv5111306,essv5084145,essv5099577,essv5147208,essv5053782,essv5007612,essv5128057,essv5144371,essv5010562,essv5092832,essv5124735,essv5032241,essv5158825,essv5160515,essv5047735,essv5116754,essv5020401,essv5031779,essv5133829,essv5082543,essv5060109,essv5148699,essv5017266,essv5072994,essv5115002,essv5135427,essv5065948,essv5031343,essv5065025,essv5099102,essv5008674,essv5089800,essv5146089,essv5046778,essv5112046,essv5052152,essv5065710,essv5160625,essv5127539,essv5063623,essv5016949,essv5061710,essv5087571,essv5152576,essv5076572,essv5146900,essv5152236,essv5103849,essv5059119,essv5004378,essv5130508,essv5005416,essv5018825,essv5017519,essv5079499,essv5069820,essv5020953,essv5135819,essv5095104,essv5083365,essv5144491,essv5129416,essv5111987,essv5035558,essv5005782,essv5150522,essv5103768,essv5160878,essv5152916,essv5026567,essv5015733,essv5022440,essv5028264,essv5068247,essv5014911,essv5089898,essv5109043,essv5058605,essv5099132,essv5025903,essv5154847,essv5057548,essv5104631,essv5112444,essv5099232,essv5010382,essv5136897,essv5010992,essv5004961,essv5128489,essv5157526,essv5010505,essv5120432,essv5072199,essv5112428,essv5088509,essv5160429,essv5084934,essv5148787,essv5102774,essv5064571,essv5111822,essv5010746,essv5126191,essv5026061,essv5060050,essv5049284,essv5132418,essv5101494,essv5015918,essv5106450,essv5052287,essv5152673,essv5060358 M 1184 0 786 "" 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NA20888,NA20889,NA20894,NA20895,NA20896,NA20898,NA20899,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20910,NA20911,NA21090,NA21091,NA21092,NA21094,NA21097,NA21099,NA21100,NA21101,NA21103,NA21105,NA21107,NA21108,NA21109,NA21111,NA21112,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21301,NA21302,NA21307,NA21308,NA21309,NA21311,NA21312,NA21314,NA21320,NA21333,NA21336,NA21339,NA21344,NA21353,NA21355,NA21357,NA21359,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21382,NA21384,NA21385,NA21386,NA21387,NA21390,NA21391,NA21402,NA21403,NA21404,NA21408,NA21414,NA21415,NA21417,NA21420,NA21424,NA21434,NA21435,NA21436,NA21439,NA21440,NA21442,NA21447,NA21448,NA21453,NA21454,NA21457,NA21473,NA21475,NA21478,NA21479,NA21480,NA21486,NA21487,NA21488,NA21491,NA21494,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21576,NA21578,NA21582,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21636,NA21647,NA21648,NA21678,NA21682,NA21683,NA21689,NA21693,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21768,NA21776,NA21825,NA21826 nsv437931 4 115397691 115401739 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468560,nssv468573,nssv468572,nssv468557,nssv468556,nssv468581,nssv468570,nssv468562,nssv468553,nssv468548,nssv468550,nssv468582,nssv468576,nssv468566,nssv468547,nssv468565,nssv468564,nssv468579,nssv468577,nssv468571,nssv468558,nssv468567,nssv468580,nssv468555,nssv468586,nssv468554,nssv468561,nssv468559,nssv468549,nssv468569,nssv468568,nssv468584,nssv468575,nssv468551,nssv468578,nssv468583 M 269 0 35 Samples from several populations that are part of the HapMap project. "" NA06994,NA07000,NA07029,NA07048,NA07357,NA10830,NA10838,NA10839,NA10851,NA10855,NA10856,NA10863,NA11830,NA11831,NA12003,NA12056,NA12146,NA12154,NA12234,NA12249,NA12717,NA12760,NA12802,NA12865,NA12874,NA18532,NA18593,NA18635,NA18945,NA18964,NA18972,NA18975,NA18976,NA18987,NA18991 nsv433468 4 115398433 115401739 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463349 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv992511 4 115398812 115402001 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587054 S 3 0 1 "" HuRef nsv822689 4 115398812 115402001 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436561,nssv1432013 M 31 0 2 "" AK20,NA18542 nsv514244 4 115399064 115401688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627686 S 1414 0 1 "" nsv516059 4 115458978 115506780 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659384,nssv665934 M 2026 2 0 "" nsv290544 4 115473867 115479097 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309122 M 24 "" esv2752021 4 115508845 115839119 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985590,essv6981509,essv6981508 M 771 1 0 MIR577,UGT8 BEC_287 dgv665n27 4 115548781 115658557 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461620,nsv461619,nsv461621 M 1557 3 0 "" HGDP00579,HGDP00641,HGDP00645 nsv879728 4 115554158 115623725 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585274 S 6533 1 0 "" IS37393 nsv879729 4 115554158 115671905 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585324 S 6533 1 0 "" IS37421 dgv1661e1 4 115561528 115809774 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6193,essv6658,esv734 M 271 0 0 MIR577,UGT8 NA18532,NA18608 nsv470064 4 115561982 115671905 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546352,nssv546354,nssv546351 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00579,HGDP00641,HGDP00645 nsv461622 4 115588265 115630733 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537996 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00597 esv267433 4 115601624 115601814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571836,essv2536640,essv2570765,essv2529250,essv2533406,essv2558086 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11840,NA11920,NA11993,NA12749 esv2752022 4 115603539 115653845 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982186,essv6986096 M 771 1 0 "" BEC_400 dgv5675n71 4 115604989 115658557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879734,nsv879730 M 6533 0 3 "" MS21325,MS21356,MS22322 nsv879731 4 115604989 115704276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546097 S 6533 0 1 "" MS17114 dgv5676n71 4 115611932 115648988 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879732,nsv879733 M 6533 0 2 "" SP56845,SP80986 nsv822690 4 115615545 115617174 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430534 S 31 1 0 "" AK16 nsv822691 4 115616037 115617174 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422556 S 31 1 0 "" NA18552 nsv818259 4 115617649 115648988 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417285 S 112 0 1 "" NA18608 essv6938 4 115623133 115653927 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18608 nsv10549 4 115632466 115634779 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12544 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv879735 4 115658557 115803172 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575819 S 6533 1 0 MIR577,UGT8 IS33811 esv2335638 4 115660922 115661310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723842 S 1 0 1 "" NA18507 esv1174737 4 115680239 115680239 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273492 S 2 1 0 "" HuRef nsv830039 4 115700570 115888186 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443910 S 95 1 0 MIR577,UGT8 nsv4478 4 115716446 115748600 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2479,nssv7116,nssv4779 M 9 0 3 UGT8 NA12156,NA18555,NA19129 nsv10551 4 115726758 115737408 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13557,nssv13311,nssv13388,nssv12414,nssv12017,nssv14063,nssv13723,nssv13514,nssv12325,nssv11962,nssv14400 M 31 0 11 Samples from several populations that are part of the HapMap project. "" NA12155,NA18504,NA18517,NA18563,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19221 nsv819060 4 115727006 115737091 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418588 S 2 0 1 "" AK1 esv1008846 4 115727159 115734913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563581 S 3 0 1 "" HuRef esv989847 4 115727257 115728593 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587176 S 3 0 1 "" HuRef nsv822692 4 115727257 115728593 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439474,nssv1427224,nssv1436562,nssv1438773,nssv1433610,nssv1435035,nssv1425700,nssv1429753,nssv1430535,nssv1434372,nssv1429001 M 31 0 11 "" AK12,AK14,AK16,AK4,NA18526,NA18542,NA18547,NA18570,NA18592,NA18942,NA18973 nsv499062 4 115727270 115733314 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585923 S 9 0 1 "" esv7352 4 115727272 115733377 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29793 S 1 0 1 "" SJK nsv514245 4 115727288 115728448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627687 S 1414 0 1 "" esv1002645 4 115727331 115733284 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586210 S 3 0 1 "" HuRef esv29398 4 115727331 115733452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17924 S 451 0 10 "" NA07037,NA12156,NA12776,NA18511,NA18517,NA18861,NA18909,NA18916,NA19129,NA19225 esv2421369 4 115727615 115729903 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052536,essv5068588,essv5023626,essv5121686,essv5075130,essv5068658,essv5142159,essv5122562,essv5150990,essv5139725,essv5069309,essv5057182,essv5045936,essv5019911,essv5131608,essv5126573,essv5079968,essv5022722,essv5013431,essv5148871,essv5008450,essv5020529,essv5087521,essv5098960,essv5053025,essv5148950,essv5004233,essv5062188,essv5043086,essv5059923,essv5090246,essv5003649,essv5124658,essv5099341,essv5130980,essv5064658,essv5138126,essv5049567,essv5095649,essv5084354,essv5130226,essv5049838,essv5087389,essv5140890,essv5123393,essv5121144,essv5093390,essv5112134,essv5021233,essv5118792,essv5121626,essv5085262,essv5012955,essv5062254,essv5137382,essv5053520,essv5056492,essv5009748,essv5149915,essv5037377,essv5040243,essv5051765,essv5125980,essv5004344,essv5027815,essv5126633,essv5101391,essv5018851,essv5115331,essv5042972,essv5090582,essv5112602,essv5076131,essv5059198,essv5142435,essv5054073,essv5126548,essv5134297,essv5160115,essv5048772,essv5154910,essv5150757,essv5007767,essv5113894,essv5125448,essv5143098,essv5136214,essv5107257,essv5047674,essv5018889,essv5070856,essv5123161,essv5006101,essv5154932,essv5146957,essv5152467,essv5097333,essv5047774,essv5030409,essv5038087,essv5003656,essv5125984,essv5018732,essv5135527,essv5107794,essv5037491,essv5147693,essv5100877,essv5070358,essv5119583,essv5036873,essv5115826,essv5104564,essv5073909,essv5008577,essv5059144,essv5020100,essv5061165,essv5077851,essv5103794,essv5139744,essv5009730,essv5117141,essv5151252,essv5109877,essv5017610,essv5052769,essv5104004,essv5042123,essv5147851,essv5050346,essv5148586,essv5008399,essv5055850,essv5152702,essv5020762,essv5065439,essv5045411,essv5033863,essv5124222,essv5003485,essv5019867,essv5014191,essv5127163,essv5052386,essv5095571,essv5017616,essv5105185,essv5136259,essv5111886,essv5018012,essv5036163,essv5140894,essv5048323,essv5015573,essv5096555,essv5031564,essv5147102,essv5137810,essv5028125,essv5104653,essv5019778,essv5134533,essv5070740,essv5120295,essv5121775,essv5065159,essv5129826,essv5077978,essv5155526,essv5057170,essv5091652,essv5149296,essv5115843,essv5082439,essv5132876,essv5096450,essv5056686,essv5037786,essv5081695,essv5009245,essv5136026,essv5117641,essv5007208,essv5024912,essv5047006,essv5019659,essv5153718,essv5088115,essv5136680,essv5011231,essv5134563,essv5119285,essv5127377,essv5161110,essv5109471,essv5026142,essv5154809,essv5056999,essv5126628,essv5097067,essv5017050,essv5006962,essv5013114,essv5104244,essv5137804,essv5004435,essv5136859,essv5112538,essv5110629,essv5025713,essv5132349,essv5042618,essv5091386,essv5136797,essv5112478,essv5127836,essv5104496,essv5159556,essv5131872,essv5027850,essv5043878,essv5052169,essv5069963,essv5003051,essv5135757,essv5074518,essv5013305,essv5019259,essv5014621,essv5141574,essv5006437,essv5144486,essv5138284,essv5111759,essv5132383,essv5129115,essv5059495,essv5078210,essv5099711,essv5139465,essv5103278,essv5064508,essv5101427,essv5011942,essv5105035,essv5144714,essv5137436,essv5102767,essv5046709,essv5143721,essv5008130,essv5023664,essv5089846,essv5036143,essv5131870,essv5092700,essv5014284,essv5072572,essv5097757,essv5007534,essv5095081,essv5018076,essv5064062,essv5130403,essv5090005,essv5072550,essv5080023,essv5044102,essv5120160,essv5042176,essv5123199,essv5013436,essv5101074,essv5128876,essv5048376,essv5045124,essv5007702,essv5048487,essv5116863,essv5147822,essv5115253,essv5154721,essv5089774,essv5020129,essv5054829,essv5086289,essv5052563,essv5127228,essv5088798,essv5145407,essv5101669,essv5139593,essv5069022,essv5094193,essv5004438,essv5125494,essv5088290,essv5040906,essv5104816,essv5143543,essv5075591,essv5034717,essv5116000,essv5146942,essv5108958,essv5043749,essv5099322,essv5108801,essv5136653,essv5084675,essv5008799,essv5004925,essv5011302,essv5117412,essv5054263,essv5141540,essv5021397,essv5100949,essv5025601,essv5129465,essv5150351,essv5159518,essv5010819,essv5102279,essv5149609,essv5036349,essv5098455,essv5131999,essv5104099,essv5035863,essv5072340,essv5086952,essv5132774,essv5004036,essv5152622,essv5088902,essv5074575,essv5111105,essv5084283,essv5104841,essv5039881,essv5082519,essv5073511,essv5132640,essv5031492,essv5136807,essv5096125,essv5125828 M 1184 0 349 "" NA06995,NA07031,NA07037,NA07346,NA10830,NA10831,NA10835,NA10846,NA10852,NA11831,NA11891,NA11919,NA11992,NA12043,NA12044,NA12145,NA12154,NA12155,NA12156,NA12248,NA12286,NA12342,NA12348,NA12383,NA12739,NA12748,NA12760,NA12761,NA12762,NA12766,NA12775,NA12776,NA12865,NA12875,NA17962,NA17966,NA17974,NA17980,NA17989,NA17995,NA18112,NA18122,NA18132,NA18135,NA18140,NA18141,NA18146,NA18152,NA18154,NA18155,NA18159,NA18162,NA18487,NA18497,NA18498,NA18503,NA18504,NA18511,NA18515,NA18517,NA18518,NA18519,NA18520,NA18526,NA18532,NA18536,NA18542,NA18543,NA18546,NA18555,NA18558,NA18561,NA18563,NA18570,NA18576,NA18592,NA18595,NA18596,NA18602,NA18603,NA18608,NA18615,NA18623,NA18624,NA18633,NA18634,NA18636,NA18640,NA18642,NA18647,NA18696,NA18740,NA18747,NA18757,NA18857,NA18859,NA18861,NA18867,NA18868,NA18869,NA18871,NA18872,NA18874,NA18909,NA18916,NA18930,NA18933,NA18934,NA18935,NA18942,NA18943,NA18944,NA18946,NA18953,NA18955,NA18962,NA18965,NA18967,NA18972,NA18973,NA18975,NA18978,NA18979,NA18990,NA19000,NA19009,NA19028,NA19036,NA19044,NA19054,NA19058,NA19062,NA19063,NA19064,NA19066,NA19079,NA19080,NA19086,NA19087,NA19093,NA19094,NA19101,NA19113,NA19116,NA19118,NA19119,NA19120,NA19128,NA19129,NA19130,NA19131,NA19132,NA19150,NA19152,NA19154,NA19176,NA19181,NA19182,NA19183,NA19189,NA19193,NA19197,NA19198,NA19200,NA19201,NA19202,NA19204,NA19206,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19247,NA19249,NA19307,NA19309,NA19313,NA19324,NA19327,NA19334,NA19347,NA19352,NA19359,NA19360,NA19373,NA19374,NA19379,NA19384,NA19431,NA19434,NA19436,NA19437,NA19438,NA19444,NA19445,NA19446,NA19451,NA19468,NA19469,NA19470,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19660,NA19663,NA19664,NA19665,NA19669,NA19671,NA19676,NA19677,NA19684,NA19685,NA19686,NA19701,NA19704,NA19705,NA19712,NA19714,NA19720,NA19746,NA19749,NA19771,NA19773,NA19775,NA19789,NA19795,NA19819,NA19828,NA19834,NA19835,NA19836,NA19917,NA19918,NA20127,NA20276,NA20277,NA20288,NA20292,NA20294,NA20300,NA20322,NA20335,NA20342,NA20348,NA20360,NA20502,NA20524,NA20529,NA20530,NA20541,NA20543,NA20588,NA20759,NA20785,NA20792,NA20803,NA20804,NA20806,NA20809,NA20811,NA20813,NA20818,NA20828,NA20845,NA20875,NA20888,NA20891,NA20900,NA20902,NA20908,NA20911,NA21094,NA21097,NA21100,NA21104,NA21143,NA21144,NA21295,NA21308,NA21309,NA21339,NA21352,NA21357,NA21362,NA21365,NA21366,NA21368,NA21378,NA21381,NA21382,NA21383,NA21384,NA21388,NA21389,NA21408,NA21414,NA21417,NA21421,NA21441,NA21448,NA21451,NA21457,NA21476,NA21477,NA21478,NA21480,NA21510,NA21512,NA21517,NA21522,NA21523,NA21524,NA21525,NA21527,NA21529,NA21573,NA21575,NA21576,NA21577,NA21578,NA21580,NA21583,NA21596,NA21600,NA21608,NA21611,NA21614,NA21615,NA21619,NA21631,NA21632,NA21683,NA21685,NA21722,NA21733,NA21740,NA21776 nsv442919 4 115727615 115729903 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv271385 4 115769333 115769689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514699,essv2519202,essv2517444,essv2517009,essv2518789,essv2514712,essv2518549,essv2516336,essv2515532,essv2518082,essv2516015,essv2517696,essv2517216 M 157 13 0 Samples from several populations that are part of the HapMap project. UGT8 NA11840,NA11894,NA11918,NA11931,NA12045,NA12234,NA12287,NA12814,NA12815,NA12872,NA12873,NA12878,NA18970 esv273665 4 115769333 115769689 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581526 S 7 1 0 Samples from several populations that are part of the HapMap project. UGT8 NA12878 nsv4479 4 115801763 115846440 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7992 S 9 0 1 UGT8 NA12156 nsv509924 4 115805410 115811410 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622065,nssv618182,nssv621242,nssv623955 M 4 0 4 UGT8 CHM,NA10860,NA15510,NA18994 nsv879736 4 115830532 115939564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600663 S 6533 0 1 "" IS41909 dgv5677n71 4 115841756 116094415 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879738,nsv879737 M 6533 2 0 NDST4 IS37946,IS41179 esv2441889 4 115843082 115844647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169687 S 1 0 1 "" NA18507 dgv26e194 4 115843865 115844518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2222273,esv2187127 M 1 0 1 "" NA18507 esv2970 4 115844012 115844371 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25411 S 1 0 1 Single Asian sample YH "" YH esv5798 4 115844046 115844335 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28239 S 1 0 1 "" SJK nsv293371 4 115844047 115844319 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311949 M 24 "" esv1007369 4 115844048 115844320 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583056 S 3 0 1 "" HuRef esv1447100 4 115844057 115844330 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908771 S 2 0 1 "" HuRef nsv879739 4 115939564 116062284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584995 S 6533 0 1 NDST4 IS37226 nsv830040 4 115955004 116127574 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443913,nssv1443912,nssv1443911 M 95 3 0 NDST4 nsv289904 4 115963339 115963583 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308482 M 24 "" esv2570638 4 115987313 115988904 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295111 S 1 0 1 NDST4 NA18507 esv1983936 4 115987494 115988227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983410 S 1 0 1 NDST4 NA18507 nsv292358 4 115987700 115988030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310936 M 24 NDST4 dgv5678n71 4 115997960 116085298 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879741,nsv879740 M 6533 0 2 NDST4 IS35229,IS35771 nsv461623 4 116022866 116108687 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537997 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NDST4 HGDP00110 nsv4480 4 116075856 116113235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7993 S 9 0 1 NDST4 NA12156 esv267807 4 116117525 116117630 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505283,essv2504665,essv2498954,essv2493857 M 157 4 0 Samples from several populations that are part of the HapMap project. NDST4 NA18853,NA19099,NA19114,NA19210 nsv435800 4 116147379 116153212 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466144 S 2 0 1 NDST4 NA15510 esv1002972 4 116148138 116148783 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587207 S 3 1 0 NDST4 HuRef nsv822693 4 116148138 116148783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426609,nssv1424932,nssv1438775,nssv1434373,nssv1430536,nssv1425485 M 31 0 6 NDST4 AK16,AK2,AK6,NA18570,NA18968,NA18973 nsv820612 4 116148138 116151343 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420439 S 1 0 1 NDST4 NA10851 nsv822694 4 116148138 116151343 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435036,nssv1423353,nssv1441021,nssv1435824,nssv1425701,nssv1428227,nssv1421657,nssv1432788,nssv1429003,nssv1432014,nssv1424157,nssv1431270,nssv1440306,nssv1436564,nssv1439485 M 31 0 15 NDST4 AK10,AK12,AK18,AK20,AK4,NA18542,NA18547,NA18564,NA18566,NA18582,NA18942,NA18969,NA18972,NA18997,NA18999 esv25921 4 116148170 116151343 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19435,esv18600 M 451 4 2 NDST4 NA11931,NA12004,NA12156,NA12776,NA18907,NA19225 nsv511239 4 116148728 116151025 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624555 S 1 0 1 NDST4 1 dgv5679n71 4 116172404 116726735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879742,nsv879744,nsv879746 M 6533 0 3 NDST4 IS35100,MS10802,MS17114 nsv830041 4 116173328 116349474 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443914 S 95 1 0 NDST4 nsv879743 4 116196139 116251788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503814 S 6533 0 1 NDST4 SP52114 nsv879745 4 116205946 116240609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499268 S 6533 0 1 NDST4 SP50652 nsv879747 4 116216437 116413588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582327 S 6533 0 1 NDST4 IS35911 nsv879748 4 116221343 116268892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513077 S 6533 0 1 NDST4 SP55683 esv2266453 4 116236600 116237030 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627764 S 1 0 1 NDST4 NA18507 esv5057 4 116236702 116236932 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27498 S 1 0 1 Single Asian sample YH NDST4 YH nsv290603 4 116236724 116236809 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309181 M 24 NDST4 esv1499242 4 116236809 116236895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109263 S 2 0 1 NDST4 HuRef nsv461624 4 116272683 116549189 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537998 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00815 dgv1662e1 4 116301040 116402149 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1086,essv16604 M 271 0 0 "" NA18860 nsv822695 4 116307280 116308139 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425953 S 31 0 1 "" NA18947 nsv461625 4 116307550 116381578 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv537999 S 1557 0 1 "" 1780854566_A dgv5680n71 4 116309516 116400004 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879751,nsv879750,nsv879749 M 6533 0 4 "" IS30522,IS30532,IS30593,SP54030 nsv879752 4 116319117 116615113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591666,nssv1597691 M 6533 0 2 "" IS39011,IS41113 nsv830042 4 116327234 116468018 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443915 S 95 1 0 "" nsv461626 4 116345699 116389138 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538000 S 1557 0 1 "" NINDS_145 nsv291667 4 116361151 116367096 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310245 M 24 "" dgv1663e1 4 116367571 116400004 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24023,essv8663,essv4347,essv24356,essv19851,essv18006,essv2116,essv1689 M 271 0 0 "" NA10839,NA12005,NA12234,NA12873,NA18622,NA18959,NA18968,NA19101 nsv4481 4 116375903 116402850 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3277 S 9 0 1 "" NA12878 nsv437932 4 116381423 116391782 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468588,nssv468590,nssv468587,nssv468589 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19206,NA19208 nsv526996 4 116381423 116393377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703371 S 2026 0 1 "" nsv818260 4 116384821 116393377 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418145 S 112 0 1 "" NA19143 esv2421632 4 116385553 116395574 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5031662,essv5055974,essv5122762,essv5001967,essv5108353,essv5093592,essv5120536,essv5124128,essv5075826,essv5054669,essv5149563,essv5139407,essv5145676,essv5153893,essv5133806,essv5006470,essv5102694,essv5066132,essv5137245,essv5053977,essv5126179,essv5071855,essv5092625,essv5056117,essv5004288,essv5158641,essv5157607,essv5025045,essv5045826,essv5072870,essv5041035,essv5159571,essv5007334,essv5091476,essv5011643,essv5060254,essv5157772,essv5090512,essv5042139,essv5129717,essv5144480,essv5027602,essv5019075,essv5013944,essv5148601,essv5153398,essv5097025,essv5060580,essv5002198,essv5075748,essv5143969,essv5038044,essv5106609,essv5069902,essv5032284,essv5120798,essv5122539,essv5008096,essv5052710,essv5153575,essv5023447,essv5007525,essv5017322,essv5145256,essv5138039,essv5080461,essv5149944,essv5068483,essv5049780,essv5057957,essv5082692,essv5020727,essv5036670,essv5111534,essv5138338,essv5048120,essv5134352,essv5092687,essv5034656,essv5064638,essv5129791,essv5008373,essv5109280,essv5091029,essv5014582,essv5090370,essv5047072,essv5132799,essv5063060,essv5104866,essv5102515,essv5083557,essv5058925,essv5072250,essv5148283,essv5051020,essv5092028,essv5157085,essv5051483,essv5077308,essv5074476,essv5122318,essv5059687,essv5102531,essv5082161,essv5114369,essv5152831,essv5134495,essv5068945,essv5140604,essv5113198,essv5004580,essv5105763,essv5138845,essv5017378,essv5025787,essv5111845,essv5058335,essv5010121,essv5080704,essv5132782,essv5123846,essv5029206,essv5024194,essv5126532,essv5139887,essv5060297,essv5102674,essv5045259 M 1184 0 129 "" NA10839,NA10855,NA11832,NA11843,NA12005,NA12145,NA12154,NA12155,NA12234,NA12386,NA12400,NA12708,NA12718,NA12827,NA12873,NA12878,NA12892,NA17983,NA17987,NA17993,NA18147,NA18156,NA18485,NA18489,NA18518,NA18537,NA18557,NA18596,NA18610,NA18622,NA18633,NA18645,NA18682,NA18745,NA18748,NA18859,NA18860,NA18867,NA18869,NA18874,NA18910,NA18911,NA18934,NA18935,NA18945,NA18957,NA18959,NA18968,NA19007,NA19028,NA19041,NA19044,NA19046,NA19060,NA19075,NA19101,NA19113,NA19115,NA19143,NA19146,NA19150,NA19151,NA19159,NA19197,NA19198,NA19206,NA19208,NA19235,NA19237,NA19247,NA19314,NA19317,NA19324,NA19359,NA19371,NA19375,NA19376,NA19390,NA19393,NA19396,NA19431,NA19436,NA19438,NA19439,NA19451,NA19455,NA19474,NA19917,NA19918,NA20277,NA20504,NA20505,NA20508,NA20518,NA20524,NA20525,NA20540,NA20544,NA20589,NA20754,NA20771,NA20775,NA20785,NA20790,NA20803,NA20808,NA20818,NA20882,NA20894,NA20897,NA20900,NA21094,NA21308,NA21309,NA21352,NA21379,NA21414,NA21441,NA21476,NA21477,NA21527,NA21573,NA21577,NA21583,NA21635,NA21678,NA21689,NA21716,NA21719 dgv100n17 4 116385553 116401258 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437419,nsv436962 M 60 0 2 "" NA12878,NA19208 nsv10552 4 116385835 116396766 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13341,nssv11985,nssv12296,nssv12574,nssv13448 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA18537,NA18860,NA19007 dgv891n67 4 116386338 116396697 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822700,nsv822699,nsv822696 M 31 0 4 "" AK16,AK2,NA18537,NA18968 nsv499063 4 116386356 116396630 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585924 S 9 0 1 "" esv28481 4 116386404 116397731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21077 S 451 0 3 "" NA12004,NA12878,NA18523 nsv514246 4 116386904 116396056 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627688 S 1414 0 1 "" nsv516863 4 116387607 116393377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653262,nssv666698,nssv693016,nssv687792,nssv661232,nssv693668,nssv679117,nssv687369,nssv684574,nssv684922,nssv690197,nssv677393,nssv668480,nssv654083,nssv658388,nssv673168,nssv661987,nssv679090,nssv657423,nssv651991,nssv661693,nssv658916,nssv659756,nssv658886,nssv679903,nssv685148,nssv661810,nssv687179,nssv690221,nssv658191,nssv667471,nssv692473,nssv684135,nssv678701,nssv685126,nssv679177,nssv678886,nssv655913,nssv686995,nssv670806,nssv660061,nssv682155,nssv682208,nssv660386,nssv679565,nssv690573,nssv658598,nssv662542,nssv680093,nssv669779,nssv680353,nssv689736,nssv678403,nssv670541,nssv658178,nssv666325,nssv673283,nssv664809,nssv676557,nssv658306,nssv672356,nssv684185,nssv677325,nssv678818,nssv669837,nssv683028,nssv663379,nssv693816,nssv690781,nssv680600,nssv669016,nssv665652,nssv688824,nssv657007,nssv655720,nssv654327,nssv671349,nssv678175,nssv668993,nssv662387,nssv673453,nssv679237,nssv683957,nssv662738,nssv670333,nssv654527,nssv668928,nssv661023,nssv665457,nssv659808,nssv663194,nssv681769,nssv662797,nssv698334,nssv669387,nssv673147,nssv686142,nssv677307,nssv651911,nssv659508,nssv665935,nssv657169,nssv659903,nssv653468,nssv663972,nssv651891,nssv653623,nssv675948,nssv678713,nssv668109,nssv677134,nssv660478,nssv682771,nssv652025 M 2026 0 114 "" nsv818261 4 116387607 116393377 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415572,nssv1416152,nssv1416151,nssv1418267 M 112 0 4 "" NA12154,NA12878,NA12892,NA19092 nsv818262 4 116387607 116400004 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417416,nssv1416725 M 112 0 2 "" NA12234,NA19159 nsv818263 4 116387607 116413588 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417507,nssv1417114 M 112 0 2 "" NA18537,NA18968 dgv666n27 4 116389138 116393377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461627,nsv461629 M 1557 0 2 "" 1780862355_A,1782681164_A nsv441908 4 116392056 116395574 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1664e1 4 116392060 116394962 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9512,essv20862,essv8519,essv22624,essv14,essv20810,essv16620 M 271 0 0 "" NA10855,NA12145,NA12154,NA18521,NA18523,NA18945,NA19208 dgv1665e1 4 116392060 116402149 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4933,essv2911,essv13126,essv18458,essv7476,essv21608 M 271 0 0 "" NA11832,NA12155,NA18537,NA18633,NA18859,NA19007 nsv879753 4 116396965 118342136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505478 S 6533 0 1 MIR1973,TRAM1L1 SP53572 nsv4482 4 116476379 116507909 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3278 S 9 1 0 "" NA12878 dgv1666e1 4 116483697 116671246 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv219,essv16362 M 271 0 0 "" NA19193 dgv5681n71 4 116495667 116650063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879760,nsv879759,nsv879758,nsv879756,nsv879754 M 6533 0 5 "" IS33491,IS35622,IS36981,IS41859,MS20237 dgv5682n71 4 116495667 116726735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879768,nsv879755,nsv879757,nsv879777 M 6533 0 7 "" IS30522,IS30597,IS31046,IS32166,IS33605,MS10737,MS11467 nsv879761 4 116510885 116805318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579109 S 6533 0 1 "" IS35018 esv29014 4 116533966 116535009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14896 S 451 0 1 "" NA19099 dgv5683n71 4 116538543 116650063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879764,nsv879774,nsv879763,nsv879762,nsv879765,nsv879772,nsv879773,nsv879766 M 6533 0 15 "" IS30593,IS30635,IS30667,IS31082,IS31554,IS31564,IS31587,IS34599,IS36527,IS37060,IS38235,IS39464,IS39475,IS39784,IS39944 dgv5684n71 4 116538543 116694109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879767,nsv879780,nsv879776,nsv879775,nsv879779 M 6533 0 6 "" IS30562,IS31074,IS31228,IS31758,IS35196,IS35572 dgv5685n71 4 116549189 116628376 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879770,nsv879771,nsv879769 M 6533 0 4 "" IS30683,IS31576,MS12266,SP54030 nsv879778 4 116572090 116621815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539769 S 6533 0 1 "" MS14495 nsv10553 4 116585110 116587204 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12067 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 dgv5686n71 4 116598166 116639836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879782,nsv879781 M 6533 0 2 "" IS31816,MS10758 nsv879783 4 116598166 116694109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587552 S 6533 0 1 "" IS38065 nsv879784 4 116615113 116647454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568926 S 6533 0 1 "" IS31373 nsv879785 4 116631356 116766549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547369 S 6533 0 1 "" MS17359 esv2572666 4 116640804 116642273 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310753 S 1 0 1 "" NA18507 esv2271591 4 116641218 116641661 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680296 S 1 0 1 "" NA18507 nsv291550 4 116641331 116641448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310128 M 24 "" nsv509925 4 116663978 116669978 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621243,nssv623956 M 4 0 2 "" NA15510,NA18994 esv274117 4 116688572 116688923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580710,essv2579047,essv2579759 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv879786 4 116751862 116851460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551518,nssv1558544 M 6533 0 2 "" MS18917,MS23340 nsv879787 4 116767884 116817988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517845,nssv1515238 M 6533 0 2 "" SP56143,SP57379 nsv879788 4 116792143 117644345 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502864 S 6533 1 0 MIR1973 SP51436 nsv525527 4 116823199 117437926 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701662 S 2026 0 1 "" esv271738 4 116857177 116857459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514728,essv2518964,essv2513826,essv2518202 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA19141,NA19143,NA19240 esv272314 4 116857177 116857459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581211 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv819396 4 116943054 116944786 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419316 S 2 1 0 "" AK1 esv2629673 4 116949272 116950801 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236301 S 1 0 1 "" NA18507 nsv516695 4 116984655 116989195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660080,nssv657114,nssv661157,nssv701411,nssv670209 M 2026 0 5 "" nsv291792 4 117063045 117063045 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310370 M 24 "" esv275218 4 117071780 117076223 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585911 S 1250 0 1 "" dgv5687n71 4 117084356 117287960 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879793,nsv879790,nsv879789 M 6533 0 4 "" IS31373,IS32166,IS36992,MS20359 nsv470065 4 117099528 117136262 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546355 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00903 nsv879791 4 117112694 117163732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593475,nssv1594058 M 6533 2 0 "" IS39417,IS39676 esv2752023 4 117124836 117304189 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989541,essv6981904,essv6989271 M 771 0 1 "" BEC_500 nsv437420 4 117128160 117142415 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467301 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv879792 4 117132389 117163732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596265 S 6533 1 0 "" IS40473 dgv5688n71 4 117139542 117431061 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879795,nsv879794 M 6533 0 2 "" IS30311,MS19414 esv273300 4 117278060 117278397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580315,essv2580566,essv2579072,essv2579517 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv2107804 4 117314521 117315043 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511274 S 1 0 1 "" NA18507 nsv519394 4 117335998 117354829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660566,nssv655867 M 2026 0 2 "" nsv525075 4 117335998 117392074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701129 S 2026 0 1 "" esv2148934 4 117371236 117371598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851704 S 1 0 1 "" NA18507 esv2585710 4 117470070 117471539 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321202 S 1 0 1 "" NA18507 esv1930790 4 117470734 117471431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743385 S 1 0 1 "" NA18507 esv3117 4 117470903 117471318 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25558 S 1 0 1 Single Asian sample YH "" YH nsv291089 4 117470928 117471244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309667 M 24 "" esv6502 4 117470929 117471255 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28943 S 1 0 1 "" SJK esv1759323 4 117470932 117471249 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359549 S 2 0 1 "" HuRef nsv879796 4 117499633 117695261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568928 S 6533 0 1 "" IS31373 esv271172 4 117527360 117527471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496859,essv2501421,essv2507015,essv2509429,essv2497519 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA19093,NA19102,NA19129,NA19147 nsv4483 4 117557985 117566848 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7994 S 9 1 0 "" NA12156 esv2638157 4 117569509 117570564 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291466 S 1 1 0 "" NA18507 esv269895 4 117569994 117570341 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511437,essv2499372,essv2513148,essv2508879,essv2511779,essv2493175,essv2504152,essv2509865,essv2493790,essv2494928,essv2506268,essv2494612,essv2501044,essv2513540,essv2495152,essv2502629,essv2509533,essv2498881,essv2497651,essv2495818,essv2503883,essv2495006,essv2513123 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA10847,NA11920,NA11994,NA12249,NA12878,NA18499,NA18504,NA18505,NA18508,NA18517,NA18520,NA18523,NA18550,NA18856,NA18907,NA18964,NA18965,NA19129,NA19138,NA19147 esv273270 4 117569995 117570298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582045 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv29522 4 117587096 117587942 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18209 S 451 0 5 "" NA12776,NA15510,NA18511,NA18517,NA18916 dgv892n67 4 117587230 117587948 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822702,nsv822701 M 31 0 4 "" AK10,AK4,AK6,NA18997 nsv526265 4 117605114 117683175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702538 S 2026 0 1 "" esv2488081 4 117639436 117641002 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233578 S 1 0 1 "" NA18507 esv2274936 4 117639903 117640557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949374 S 1 0 1 "" NA18507 esv3399 4 117640000 117640423 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25840 S 1 0 1 Single Asian sample YH "" YH dgv168n6 4 117640078 117640372 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291897,nsv290164 M 24 "" nsv293260 4 117650164 117650225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311838 M 24 "" nsv525079 4 117652678 117689747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701134 S 2026 0 1 "" nsv879797 4 117653685 117832345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598216 S 6533 0 1 "" IS41263 nsv822703 4 117719191 117722437 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421660 S 31 0 1 "" NA18997 dgv5689n71 4 117740179 117788079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879799,nsv879800,nsv879798 M 6533 0 5 "" IS30667,IS35498,MS12266,MS17114,MS20872 dgv1667e1 4 117741759 117840327 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3234,essv24800,essv1870,essv14771,essv9822,essv3031,essv24136,essv21694,essv3483,essv13779,essv17584,essv13616,essv9599,essv20794,essv4596,essv2509,essv22102,essv5547,essv16541,essv8781,essv14585,essv24419,essv23173,essv15685,essv10025,essv3308,essv7756,essv16159,essv12167,essv7012,essv18661,essv23263,essv12523,essv5921,essv23778,essv4464,essv5144,essv21785,essv3153,essv22077,essv5343,essv22954,essv24920,essv15780,essv16997,essv6027,essv545,essv13180,essv22389,essv15073,essv3127,essv16661,essv8190,essv23993,essv7328,essv5063,essv11147,essv22856,essv8922,essv357,essv4094,essv8092,essv19450,essv11196,esv13,essv4974,essv14518,essv19214,essv9906,essv13858,essv10661,essv11422,essv8351,essv10344,essv13474,essv9112,essv14115,essv18161,essv9064,essv19539,essv14436,essv21988,essv17929,essv12767,essv2310,essv6351,essv21831,essv454,essv6725,essv14182,essv132,essv11942,essv21514,essv6770,essv15208,essv18959 M 271 0 0 "" NA06994,NA07029,NA07357,NA10838,NA10847,NA10857,NA10860,NA11839,NA11840,NA11993,NA11995,NA12003,NA12005,NA12146,NA12154,NA12156,NA12234,NA12239,NA12248,NA12707,NA12716,NA12760,NA12762,NA12763,NA12864,NA12873,NA12875,NA18502,NA18506,NA18524,NA18529,NA18542,NA18550,NA18552,NA18562,NA18563,NA18564,NA18570,NA18571,NA18576,NA18608,NA18609,NA18612,NA18635,NA18637,NA18854,NA18855,NA18857,NA18858,NA18860,NA18861,NA18863,NA18912,NA18914,NA18940,NA18952,NA18968,NA18969,NA18971,NA18972,NA18974,NA18976,NA18981,NA18992,NA18998,NA19003,NA19012,NA19092,NA19093,NA19094,NA19099,NA19100,NA19101,NA19102,NA19116,NA19127,NA19129,NA19131,NA19132,NA19140,NA19141,NA19142,NA19144,NA19145,NA19153,NA19159,NA19192,NA19200,NA19201,NA19202,NA19204,NA19206,NA19207,NA19210,NA19211 nsv428449 4 117741759 117840327 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv454583,nssv454588,nssv454584,nssv454591,nssv454585,nssv454596,nssv454599,nssv454595,nssv454597,nssv454581,nssv454590,nssv454594,nssv454582,nssv454592,nssv454593,nssv454586,nssv454589 M 62 15 2 "" HGDP00449,HGDP00450,HGDP00467,HGDP00471,HGDP00474,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01093,NA18498,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225 nsv470067 4 117753744 117822273 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546356,nssv546357 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00471,HGDP01061 nsv879801 4 117753745 117788079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568365 S 6533 0 1 "" IS31259 dgv5690n71 4 117753745 117832345 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879803,nsv879802 M 6533 0 2 "" IS31373,IS31634 nsv522206 4 117765851 117768849 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694981 S 2026 1 0 "" nsv879804 4 117782013 117832345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555927 S 6533 0 1 "" MS21717 nsv10554 4 117782744 117790545 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12609,nssv13371 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12740,NA18860 nsv879805 4 117791751 117873349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575440 S 6533 0 1 "" IS33747 nsv879806 4 117856183 117947992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579489 S 6533 0 1 "" IS35114 nsv441909 4 117866565 117869001 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv879807 4 117873349 118045522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552827 S 6533 0 1 "" MS19634 nsv879808 4 117873349 118207026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546100 S 6533 0 1 "" MS17114 nsv436793 4 117884692 117885213 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466145 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv879809 4 117903931 117980897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564944 S 6533 0 1 "" IS30322 nsv830043 4 117985273 118126338 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443916 S 95 0 1 "" nsv879810 4 117999808 118172954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534561 S 6533 0 1 "" MS11669 esv267796 4 118005832 118006170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503064,essv2502002 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA19257 dgv5691n71 4 118051960 118131843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879811,nsv879815 M 6533 0 2 "" IS31330,SP53838 nsv879812 4 118060781 118111203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569533 S 6533 0 1 "" IS31617 dgv5692n71 4 118060781 118172954 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879813,nsv879814,nsv879818 M 6533 0 3 "" IS30522,IS35498,IS39923 dgv5693n71 4 118067920 118220292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879816,nsv879817 M 6533 0 2 "" IS31373,IS33864 dgv5694n71 4 118112513 118220292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879820,nsv879819 M 6533 0 2 "" IS30884,MS15199 nsv879821 4 118125367 118172954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515845 S 6533 0 1 "" SP56294 esv2513579 4 118131290 118132921 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323488 S 1 0 1 "" NA18507 nsv521984 4 118165736 118199183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694752 S 2026 0 1 "" nsv518806 4 118342136 118423525 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696260 S 2026 1 0 "" dgv5695n71 4 118342136 118464432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879822,nsv879823 M 6533 0 2 "" IS31904,MS15199 nsv822704 4 118350912 118351378 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425507 S 31 0 1 "" NA18968 nsv879824 4 118366844 118414071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515335 S 6533 0 1 "" SP56172 nsv818264 4 118406713 118435301 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417858 S 112 1 0 "" NA18852 nsv508307 4 118436455 118458818 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622498 S 4 0 1 "" NA18994 esv1197335 4 118491596 118491596 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959622 S 2 1 0 "" HuRef nsv822705 4 118500681 118501262 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427347 S 31 1 0 "" NA18592 nsv879825 4 118511762 118552815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551736 S 6533 0 1 "" MS18978 nsv879826 4 118511762 118570829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546101 S 6533 0 1 "" MS17114 nsv470068 4 118516408 118547240 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546358 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 esv272183 4 118551815 118553066 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579114,essv2579620 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271519 4 118551819 118553013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499357,essv2508550,essv2501212,essv2494672,essv2506283,essv2498387,essv2505920,essv2494041,essv2513508,essv2506569,essv2510493,essv2497009,essv2501959,essv2498095 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA12717,NA18516,NA18519,NA18523,NA18858,NA18861,NA18871,NA18907,NA19108,NA19172,NA19190,NA19239,NA19240 nsv4484 4 118612055 118645610 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7995 S 9 1 0 "" NA12156 dgv5696n71 4 118626047 118716120 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879827,nsv879828 M 6533 0 2 "" IS31373,IS34658 esv275303 4 118646035 118650855 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585349,essv2585890 M 1250 1 1 "" dgv5697n71 4 118649323 118698969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879830,nsv879829 M 6533 0 5 "" IS31094,IS31228,IS33196,IS34896,IS36787 nsv879831 4 118689599 118722176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579814 S 6533 0 1 "" IS35181 dgv1668e1 4 118698296 119894190 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23855,esv746,essv19300 M 271 0 0 CEP170P1,METTL14,NDST3,PRSS12,SEC24D,SNHG8,SNORA24 NA07022 nsv879832 4 118722176 118755499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553657 S 6533 0 1 "" MS20237 esv2084082 4 118724489 118724962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770423 S 1 0 1 "" NA18507 esv4827 4 118724593 118724870 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27268 S 1 0 1 Single Asian sample YH "" YH nsv292092 4 118724687 118724823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310670 M 24 "" nsv879833 4 118730260 118775754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532237 S 6533 0 1 "" MS10737 nsv461630 4 118746728 118756277 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538003 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01262 nsv879834 4 118752075 118882559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567755 S 6533 0 1 "" IS31145 nsv436963 4 118762806 118766846 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466844 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07019 nsv879835 4 118764835 118842021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590289 S 6533 0 1 "" IS38487 nsv879836 4 118770592 118806718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551976 S 6533 0 1 "" MS19068 esv34354 4 118783787 119807559 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980300,essv6990466,essv6987046,essv6980302,essv6980301 M 771 1 0 CEP170P1,NDST3,PRSS12,SNHG8,SNORA24 NA07022 nsv879837 4 118818642 118869490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552251 S 6533 0 1 "" MS19303 esv268796 4 118829233 118829355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494139,essv2505897,essv2506835,essv2506577,essv2509550,essv2496956,essv2501794,essv2498119 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18861,NA19102,NA19108,NA19129,NA19190,NA19239,NA19240 esv273952 4 118829251 118829427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584666,essv2583591 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv437933 4 118832602 118837538 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468593,nssv468591,nssv468592,nssv468594 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA07000,NA07029,NA19210,NA19211 nsv523419 4 118855046 118871897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699172 S 2026 0 1 "" nsv291653 4 118880681 118880773 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310231 M 24 "" nsv879838 4 118900709 118972510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598226 S 6533 0 1 "" IS41113 esv273260 4 118938970 118939223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580252,essv2580419,essv2580053,essv2579263 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 nsv10555 4 118942591 118944999 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11591 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 esv274677 4 118984652 118986375 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579313,essv2579625 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269244 4 118984686 118986453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525992,essv2556696,essv2568351,essv2521521,essv2544752,essv2538407,essv2540315,essv2539889,essv2522086,essv2572409,essv2529957,essv2527440,essv2545729,essv2533428,essv2563176 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA11918,NA11994,NA11995,NA12144,NA18526,NA18547,NA18552,NA18563,NA18571,NA18609,NA18949,NA18952,NA19239 nsv519017 4 119048255 119990929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696485 S 2026 0 1 CEP170P1,METTL14,NDST3,PRSS12,SEC24D,SNHG8,SNORA24 nsv879839 4 119186644 119229574 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514419 S 6533 0 1 NDST3 SP56004 esv1403828 4 119206884 119206935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127435 S 2 0 1 NDST3 HuRef esv1712451 4 119207062 119207062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916579 S 2 1 0 NDST3 HuRef esv1771263 4 119207186 119207415 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338326 S 2 0 1 NDST3 HuRef esv34038 4 119254572 119674839 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CEP170P1,NDST3,PRSS12,SNHG8,SNORA24 nsv4485 4 119322797 119363782 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv409,nssv7117 M 9 0 2 NDST3 NA12156,NA19240 nsv511250 4 119334814 119353756 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624677 S 1 0 1 NDST3 1 nsv10556 4 119335332 119349992 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12474,nssv12811,nssv13587,nssv11621,nssv12603,nssv14123,nssv13482,nssv12418 M 31 0 8 Samples from several populations that are part of the HapMap project. NDST3 NA07048,NA12872,NA18502,NA18972,NA18975,NA19132,NA19144,NA19240 nsv820226 4 119340407 119349777 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418575 S 2 0 1 NDST3 AK1 nsv513162 4 119344196 119349855 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626658 S 1 0 1 NDST3 1 nsv499064 4 119344859 119349652 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585925 S 9 0 1 NDST3 nsv291334 4 119344860 119349647 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309912 M 24 NDST3 esv21468 4 119345144 119349757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20674 S 451 0 14 NDST3 NA06985,NA07037,NA11894,NA12004,NA12006,NA12156,NA12749,NA18502,NA18508,NA18523,NA18907,NA19147,NA19225,NA19240 dgv893n67 4 119345171 119349647 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822708,nsv822707,nsv822706 M 31 0 5 NDST3 AK16,AK4,AK8,NA18969,NA18973 nsv514247 4 119345368 119349728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627689 S 1414 0 1 NDST3 nsv10557 4 119374397 119378135 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13617,nssv12355 M 31 0 2 Samples from several populations that are part of the HapMap project. NDST3 NA18980,NA19132 nsv10558 4 119454024 119463383 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14460 S 31 0 1 Samples from several populations that are part of the HapMap project. PRSS12 NA19221 nsv461631 4 119481387 119528051 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538004 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRSS12 HGDP01090 nsv525540 4 119498546 119522472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701676 S 2026 0 1 "" esv2653342 4 119515114 119516499 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210913 S 1 0 1 "" NA18507 esv2242574 4 119515618 119516322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711422 S 1 0 1 "" NA18507 esv3078 4 119515727 119516302 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25519 S 1 0 1 Single Asian sample YH "" YH esv6841 4 119515784 119516137 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29282 S 1 0 1 "" SJK dgv169n6 4 119515791 119516139 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291464,nsv293055 M 24 "" esv4940 4 119542147 119542409 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27381 S 1 0 1 Single Asian sample YH "" YH esv24307 4 119557627 119608785 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18688,esv16899,esv15113 M 451 1 27 "" NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19190,NA19225,NA19257 nsv830044 4 119558150 119712982 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443917,nssv1443921,nssv1443920,nssv1443919 M 95 0 4 CEP170P1 esv1006693 4 119586299 119607970 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586106 S 3 1 0 "" HuRef nsv507190 4 119596345 119602345 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622899,nssv621760 M 4 2 0 "" NA10860,NA18994 nsv4486 4 119618500 119645764 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7996 S 9 0 1 "" NA12156 essv11621 4 119713367 119894190 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. METTL14,SEC24D NA19154 esv22384 4 119771847 119803788 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16226 S 451 1 0 "" NA12239 nsv516777 4 119952814 119982399 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678971,nssv670760 M 2026 2 0 SEC24D esv273593 4 119994144 119994479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581923,essv2582966 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv268353 4 119994146 119994479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571625,essv2546290,essv2521393,essv2542589,essv2545669,essv2548206,essv2520291,essv2529258,essv2558331,essv2565229,essv2520012,essv2530778,essv2537320,essv2546716,essv2552819,essv2524335,essv2534798,essv2539815,essv2570064,essv2573798,essv2527681,essv2531673,essv2573395,essv2538019,essv2554780 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA11840,NA11881,NA11894,NA11919,NA12003,NA12045,NA12716,NA12749,NA12750,NA12812,NA12815,NA12873,NA12878,NA12892,NA18542,NA18555,NA18561,NA18563,NA18593,NA18951,NA18952,NA18961,NA18964 esv1280152 4 119994184 119994184 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315087 S 2 1 0 "" HuRef nsv289598 4 120023213 120031300 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308176 M 24 SYNPO2 esv992928 4 120100144 120108906 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565461 S 3 0 1 SYNPO2 HuRef nsv522652 4 120169408 120169634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706052 S 2026 0 1 SYNPO2 nsv819746 4 120200465 120200642 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419015 S 2 1 0 SYNPO2 AK1 nsv522386 4 120228595 120334827 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695165 S 2026 1 0 MYOZ2 nsv291815 4 120233265 120233588 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310393 M 24 "" esv5184 4 120236635 120237129 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27625 S 1 0 1 Single Asian sample YH "" YH esv989004 4 120236688 120237007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581872 S 3 0 1 "" HuRef esv8719 4 120236700 120236997 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31160 S 1 0 1 "" SJK esv1182193 4 120236700 120237020 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738375 S 2 0 1 "" HuRef nsv4488 4 120246564 120281606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv410 S 9 1 0 MYOZ2 NA19240 nsv507191 4 120280971 120286971 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621761,nssv617641,nssv620261 M 4 3 0 MYOZ2 CHM,NA10860,NA15510 esv271047 4 120291084 120291376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542527,essv2536718,essv2577635,essv2577828,essv2562026,essv2532892,essv2567675,essv2541688,essv2531625,essv2535937,essv2533114,essv2554364 M 157 12 0 Samples from several populations that are part of the HapMap project. MYOZ2 NA06986,NA07051,NA07346,NA11919,NA11920,NA12043,NA12761,NA12874,NA18576,NA18577,NA18592,NA18961 esv2329745 4 120388669 120389158 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498273 S 1 0 1 USP53 NA18507 nsv879840 4 120446867 120476865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501435 S 6533 1 0 FABP2 SP50940 esv2525765 4 120462977 120464616 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268246 S 1 0 1 "" NA18507 dgv5698n71 4 120463533 120643535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879841,nsv879842 M 6533 0 2 FLJ14186,LOC645513,PDE5A IS33669,MS22677 esv2018154 4 120463809 120464548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644172 S 1 0 1 "" NA18507 dgv170n6 4 120464007 120464366 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290888,nsv290094 M 24 "" esv8767 4 120464014 120464354 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31208 S 1 0 1 "" SJK esv2538163 4 120472302 120608126 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364957 S 1 0 1 FLJ14186,LOC645513 NA18507 esv2031954 4 120482990 120484284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862355 S 1 0 1 "" NA18507 dgv5699n71 4 120545771 120721909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879846,nsv879843,nsv879845 M 6533 0 3 FLJ14186,LOC645513,PDE5A IS38622,MS11384,SP56004 dgv5700n71 4 120560744 120669607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879847,nsv879844 M 6533 0 2 LOC645513,PDE5A IS35498,SP52114 nsv879848 4 120628379 120653255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500101 S 6533 0 1 LOC645513,PDE5A SP50120 nsv822710 4 120640567 120641019 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437399 S 31 0 1 PDE5A NA18949 esv22189 4 120772287 120775577 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17708 S 451 0 3 "" NA18502,NA18505,NA18909 nsv509926 4 120816127 120822127 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618183,nssv621244,nssv623958,nssv622066 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv822711 4 120819701 120826014 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440308 S 31 0 1 "" NA18564 nsv441910 4 120824308 120828716 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv268407 4 120859319 120859598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2548596,essv2565452,essv2520154,essv2562143 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12812,NA12815,NA12874 esv272735 4 120939517 120939851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582211,essv2582401 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv879849 4 121043082 121141892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537580 S 6533 0 1 "" MS13253 nsv822712 4 121084900 121086066 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440309 S 31 0 1 "" NA18564 esv7248 4 121085738 121170201 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29689 S 1 0 0 "" SJK nsv879850 4 121117957 121188537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527297 S 6533 1 0 "" SP58325 nsv879851 4 121161820 121203525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568932 S 6533 0 1 MAD2L1 IS31373 nsv436965 4 121166348 121172938 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466846 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10860 nsv436964 4 121166348 121183635 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466845 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10831 nsv437934 4 121170654 121172401 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468597,nssv468595,nssv468599,nssv468598 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10831,NA10860,NA11993,NA12155 esv22052 4 121182909 121184554 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11266 S 451 0 4 "" NA18508,NA18861,NA19147,NA19257 nsv528554 4 121187518 121188537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705167 S 2026 0 1 "" esv2548819 4 121305921 121307322 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238967 S 1 0 1 "" NA18507 esv1930451 4 121306348 121306933 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963001 S 1 0 1 "" NA18507 esv1246317 4 121306543 121306748 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219574 S 2 0 1 "" HuRef esv2624562 4 121306544 121306748 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379432 S 1 0 1 "" NA18507 nsv292708 4 121306544 121306748 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311286 M 24 "" nsv437421 4 121309490 121332612 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467302 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 nsv527506 4 121315603 121316763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703959 S 2026 0 1 "" nsv879852 4 121328184 121987946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527298 S 6533 1 0 PRDM5 SP58325 nsv4489 4 121330736 121364504 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3137,nssv7118,nssv411,nssv4780,nssv11090 M 9 5 0 "" NA12156,NA15510,NA18555,NA19129,NA19240 nsv259 4 121349026 121362327 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv259 S 1 1 0 "" NA15510 nsv509015 4 121356410 121398730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623416 S 4 1 0 "" NA18994 esv991369 4 121356887 121356890 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564111 S 3 1 0 "" HuRef nsv879853 4 121512115 121732665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545965 S 6533 0 1 "" MS17085 esv1010767 4 121627107 121627429 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567946 S 3 0 1 "" HuRef esv7822 4 121627110 121627426 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30263 S 1 0 1 "" SJK nsv879854 4 121677135 121709433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518130 S 6533 0 1 "" SP57469 nsv514248 4 121743008 121762040 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627690 S 1414 0 1 "" nsv441911 4 121743029 121762869 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516202 4 121752008 121764588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674172,nssv656787,nssv690871,nssv685052,nssv663289,nssv690349,nssv693066,nssv672422,nssv663132,nssv682421,nssv666791,nssv687332 M 2026 0 12 "" dgv50n64 4 121752008 121765264 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818266,nsv818265 M 112 0 2 "" NA18516,NA19119 esv271572 4 121801672 121801757 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515426,essv2515077,essv2518179,essv2515998,essv2514376,essv2513882 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12812,NA12872,NA12873,NA12874,NA19143 nsv461634 4 121842507 121984977 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538005 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRDM5 HGDP01238 nsv507192 4 121861795 121867795 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617642 S 4 1 0 PRDM5 CHM dgv5701n71 4 121911349 121966785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879855,nsv879858,nsv879857,nsv879856 M 6533 0 5 PRDM5 SP54409,SP54792,SP55655,SP56004,SP57418 esv2472537 4 121926426 121927802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372917 S 1 0 1 PRDM5 NA18507 nsv4490 4 122002389 122020696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7997 S 9 0 1 PRDM5 NA12156 esv1970766 4 122028181 122028899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687973 S 1 0 1 PRDM5 NA18507 nsv292623 4 122028393 122028709 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311201 M 24 PRDM5 nsv4491 4 122030783 122065361 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv412 S 9 1 0 PRDM5 NA19240 nsv822713 4 122076346 122081050 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438108 S 31 0 1 "" NA18951 nsv879859 4 122111940 122657762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526790 S 6533 1 0 NDNF,QRFPR,TNIP3 SP57817 nsv292164 4 122144011 122144011 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310742 M 24 "" esv1540899 4 122144116 122144116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605274 S 2 1 0 "" HuRef nsv507193 4 122175641 122181641 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620262,nssv617643,nssv622900,nssv621762 M 4 4 0 NDNF CHM,NA10860,NA15510,NA18994 nsv4492 4 122246107 122279006 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7119 S 9 1 0 TNIP3 NA12156 nsv879860 4 122250314 122346258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596838 S 6533 0 1 TNIP3 IS40657 nsv879861 4 122346258 122400727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503211 S 6533 1 0 TNIP3 SP52003 nsv4493 4 122383193 122405431 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7998 S 9 0 1 "" NA12156 esv2639079 4 122435924 122437425 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337769 S 1 0 1 "" NA18507 esv990432 4 122452099 122452215 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573565 S 3 0 1 "" HuRef esv1003865 4 122454173 122454318 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585898 S 3 0 1 "" HuRef esv1647517 4 122454267 122454413 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973031 S 2 0 1 "" HuRef nsv4494 4 122476288 122509911 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2480 S 9 0 1 QRFPR NA18555 nsv437422 4 122496326 122510972 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467303 S 60 0 1 Samples from several populations that are part of the HapMap project. QRFPR NA18506 nsv508308 4 122498347 122532169 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617497 S 4 0 1 QRFPR CHM nsv10559 4 122500848 122511747 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11479,nssv12326,nssv12478,nssv14490 M 31 0 4 Samples from several populations that are part of the HapMap project. QRFPR NA18572,NA19007,NA19144,NA19221 esv2533163 4 122501131 122508096 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181564 S 1 0 1 QRFPR NA18507 esv2539204 4 122501211 122510250 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185778 S 1 0 1 QRFPR NA18507 dgv894n67 4 122501494 122508724 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822715,nsv822714 M 31 0 4 QRFPR AK20,NA18526,NA18542,NA18547 esv2385732 4 122501507 122509619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524860 S 1 0 1 QRFPR NA18507 esv25515 4 122501689 122510124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15937 S 451 0 5 QRFPR NA12776,NA18523,NA18858,NA19225,NA19257 nsv514249 4 122501696 122508584 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627691 S 1414 0 1 QRFPR nsv499065 4 122501699 122509404 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585926 S 9 0 1 QRFPR nsv442920 4 122501918 122504766 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 QRFPR esv2421795 4 122501918 122509433 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5042462,essv5114284,essv5050587,essv5143898,essv5011895,essv5048973,essv5152522,essv5148609,essv5039182,essv5131506,essv5143905,essv5146721,essv5156515,essv5040943,essv5087330,essv5142603,essv5117964,essv5103785,essv5036351,essv5036704,essv5098151,essv5120642,essv5148441,essv5033357,essv5083335,essv5098619,essv5106098,essv5014635,essv5104227,essv5030442,essv5078472,essv5033788,essv5146474,essv5014291,essv5085279,essv5019662,essv5074283,essv5088411,essv5052704,essv5022916,essv5155518,essv5094265,essv5132489,essv5008146,essv5016747,essv5119310,essv5008409,essv5084820,essv5142803,essv5102361,essv5145001,essv5056524,essv5002396,essv5042614,essv5019578,essv5044122,essv5077445,essv5019440,essv5117464,essv5038784,essv5116768,essv5004708,essv5037181,essv5069528,essv5049897,essv5135354,essv5080648,essv5082110,essv5056310,essv5059334,essv5075668,essv5062432,essv5126758,essv5159078,essv5071775,essv5021346,essv5116245,essv5103260,essv5103971,essv5003429,essv5103276,essv5148823,essv5133091,essv5120217,essv5126007,essv5081801,essv5035833,essv5074645,essv5152561,essv5102191,essv5154237,essv5008047,essv5007759,essv5055727,essv5124989,essv5109897,essv5059740,essv5119872,essv5087998,essv5057858,essv5052097,essv5116651,essv5159519,essv5130020,essv5022030,essv5134964,essv5083604,essv5114357,essv5150626,essv5012529,essv5016128,essv5116812,essv5032706,essv5044634,essv5146314,essv5032889,essv5074217,essv5086207,essv5067301,essv5029168,essv5138227,essv5147313,essv5057669,essv5059114,essv5028487,essv5134934,essv5140045,essv5140619,essv5060760,essv5119824,essv5155370,essv5128313,essv5011116,essv5096431,essv5091910,essv5081037,essv5064701,essv5059382,essv5017627,essv5101374,essv5156787,essv5131005,essv5046798,essv5034785,essv5065519,essv5099047,essv5142560,essv5154179,essv5134444,essv5055052,essv5083907,essv5023347,essv5143435,essv5109770,essv5111475,essv5128676,essv5120580,essv5066859,essv5158603,essv5004283,essv5107248,essv5054499,essv5042288,essv5160097,essv5145577,essv5109909,essv5149874 M 1184 0 167 QRFPR NA07031,NA07345,NA10861,NA11994,NA12044,NA12283,NA12375,NA12766,NA12775,NA12776,NA12801,NA12812,NA12814,NA12892,NA17966,NA17969,NA17980,NA17982,NA17989,NA17993,NA18105,NA18108,NA18109,NA18117,NA18128,NA18129,NA18139,NA18141,NA18144,NA18148,NA18150,NA18161,NA18497,NA18499,NA18506,NA18507,NA18524,NA18526,NA18534,NA18542,NA18543,NA18550,NA18555,NA18557,NA18558,NA18572,NA18594,NA18595,NA18603,NA18608,NA18610,NA18617,NA18620,NA18623,NA18624,NA18627,NA18630,NA18633,NA18634,NA18642,NA18647,NA18670,NA18704,NA18747,NA18858,NA18868,NA18870,NA18874,NA18875,NA18910,NA18911,NA18917,NA18930,NA18944,NA18945,NA18964,NA18974,NA18977,NA18978,NA18979,NA18991,NA19007,NA19064,NA19075,NA19087,NA19093,NA19094,NA19098,NA19121,NA19144,NA19153,NA19154,NA19159,NA19176,NA19181,NA19193,NA19194,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19257,NA19258,NA19317,NA19319,NA19346,NA19380,NA19398,NA19403,NA19435,NA19436,NA19443,NA19468,NA19469,NA19676,NA19677,NA19701,NA19702,NA19789,NA19795,NA19834,NA19836,NA19900,NA19902,NA19908,NA19917,NA19919,NA20512,NA20516,NA20520,NA20530,NA20544,NA20589,NA20755,NA20766,NA20800,NA20803,NA20807,NA20809,NA20828,NA20870,NA21123,NA21301,NA21302,NA21344,NA21371,NA21382,NA21387,NA21389,NA21390,NA21391,NA21403,NA21404,NA21417,NA21448,NA21454,NA21455,NA21491,NA21510,NA21517,NA21613,NA21620,NA21719 nsv516414 4 122504713 122505518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662207,nssv672423,nssv688708,nssv671300,nssv668213,nssv673384,nssv658887,nssv678819,nssv677494,nssv675282 M 2026 0 10 QRFPR nsv528104 4 122504713 122510972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704645 S 2026 0 1 QRFPR esv1499673 4 122506196 122506245 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309120 S 2 0 1 QRFPR HuRef nsv292673 4 122506234 122506285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311251 M 24 QRFPR nsv10560 4 122512947 122517040 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14520 S 31 0 1 Samples from several populations that are part of the HapMap project. QRFPR NA19221 nsv4495 4 122529533 122574561 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7999 S 9 0 1 "" NA12156 nsv516606 4 122562025 122616456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672934,nssv673092,nssv701451,nssv669516,nssv688228,nssv689942,nssv680051 M 2026 0 7 "" nsv524923 4 122604933 122618788 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700936 S 2026 0 1 "" nsv526872 4 122618788 122621090 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703230 S 2026 1 0 "" esv273509 4 122633222 122633354 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578891,essv2579585 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268245 4 122633235 122633377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565821,essv2575802,essv2521192,essv2550810,essv2535427,essv2520413,essv2564366,essv2530464,essv2552488,essv2551716,essv2532423,essv2550098,essv2558717,essv2536913,essv2538972,essv2527267,essv2544598,essv2562914,essv2523839,essv2552978,essv2541278,essv2542787,essv2540246,essv2524704,essv2564842,essv2534871,essv2561145,essv2539669,essv2549166,essv2519771,essv2566021,essv2530948,essv2532929,essv2529053,essv2567608,essv2541831,essv2570292,essv2535708,essv2572237,essv2559012,essv2566988,essv2542121,essv2569154,essv2543551,essv2556377,essv2527927,essv2562327,essv2539282,essv2533869,essv2578319,essv2533715,essv2566369,essv2534357,essv2522395,essv2573507,essv2543291,essv2575116,essv2538802,essv2526592,essv2524010,essv2560910,essv2574796,essv2572668,essv2568710,essv2560488,essv2549940,essv2571461,essv2546117,essv2574336,essv2551450,essv2536241,essv2537816,essv2548895 M 157 73 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA11829,NA11830,NA11894,NA12155,NA12249,NA12716,NA12751,NA18486,NA18502,NA18504,NA18505,NA18511,NA18516,NA18517,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18948,NA18959,NA18960,NA18964,NA18965,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv507194 4 122655776 122661776 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622901,nssv621763,nssv620264,nssv617644 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2643247 4 122666913 122668413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174578 S 1 0 1 "" NA18507 nsv879862 4 122668421 122748425 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526791 S 6533 1 0 "" SP57817 nsv509927 4 122688453 122694453 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618184,nssv621245 M 4 0 2 "" CHM,NA15510 nsv508309 4 122883241 122900095 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618751 S 4 0 1 TMEM155 NA10860 nsv507195 4 122972340 122978340 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620265,nssv617645,nssv621764,nssv622902 M 4 4 0 BBS7 CHM,NA10860,NA15510,NA18994 esv24000 4 123091723 123092558 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18693 S 451 0 1 TRPC3 NA07045 nsv879863 4 123153141 123204083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577868 S 6533 0 1 "" IS34599 nsv293483 4 123205881 123212240 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312061 M 24 "" nsv830045 4 123211500 123449041 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443922 S 95 0 1 KIAA1109 nsv526361 4 123222591 123261304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702654 S 2026 0 1 "" nsv507196 4 123231449 123237449 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622903 S 4 1 0 "" NA18994 nsv4496 4 123469582 123503702 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv413 S 9 1 0 KIAA1109 NA19240 dgv5702n71 4 123548812 123572882 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879865,nsv879864 M 6533 0 2 ADAD1 SP50144,SP50652 dgv45n50 4 123630770 123632284 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511248,nsv513163 M 1 0 1 "" 1 esv25001 4 123630889 123631842 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15291 S 451 0 2 "" NA11931,NA12239 esv2061296 4 123721474 123721871 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596441 S 1 0 1 "" NA18507 nsv879866 4 123749515 123765098 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503545 S 6533 1 0 IL21 SP52077 esv2026047 4 123929720 123930171 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782887 S 1 0 1 "" NA18507 nsv290163 4 123942362 123943621 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308741 M 24 "" nsv879867 4 124002644 124425567 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544124 S 6533 1 0 FGF2,NUDT6,SPATA5 MS16266 dgv5703n71 4 124087906 124374527 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879869,nsv879868 M 6533 2 0 SPATA5 SP51115,SP53933 esv275520 4 124106633 124107082 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585617,essv2585985 M 1250 1 1 SPATA5 nsv879870 4 124115850 124236769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570534 S 6533 0 1 SPATA5 IS32166 esv2543745 4 124186756 124188123 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308794 S 1 0 1 SPATA5 NA18507 nsv830046 4 124226679 124388567 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443923 S 95 1 0 SPATA5 esv268542 4 124236821 124237176 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504272,essv2507023,essv2506707,essv2497646,essv2511969,essv2498116 M 157 6 0 Samples from several populations that are part of the HapMap project. SPATA5 NA18505,NA19102,NA19108,NA19147,NA19238,NA19240 esv273916 4 124236830 124237165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584299,essv2583876 M 7 2 0 Samples from several populations that are part of the HapMap project. SPATA5 NA19238,NA19240 nsv4497 4 124244325 124289214 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8000 S 9 0 1 SPATA5 NA12156 esv275210 4 124315057 124322328 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586171 S 1250 0 1 SPATA5 nsv508310 4 124346094 124377088 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619941 S 4 0 1 SPATA5 NA15510 nsv507197 4 124349106 124355106 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622904 S 4 1 0 SPATA5 NA18994 dgv1669e1 4 124430676 125598797 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2920,esv774,essv1398 M 271 0 0 LOC285419,SPATA5,SPRY1 NA19007 nsv10562 4 124469144 125475576 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11992,nssv12127,nssv12648,nssv12290,nssv12869,nssv13647,nssv13478,nssv12504,nssv12047,nssv29167,nssv12356,nssv14153,nssv12062,nssv11946,nssv12618,nssv12604,nssv12385,nssv12508,nssv11705,nssv13401,nssv14183 M 31 10 11 Samples from several populations that are part of the HapMap project. LOC285419,SPRY1 NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173 esv34581 4 124490771 125466845 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978360,essv6978361,essv6978362,essv6978363,essv6978364 M 771 1 0 LOC285419,SPRY1 NA19007 nsv293467 4 124552197 124555010 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312045 M 24 "" nsv516959 4 124561959 124564167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669017,nssv661330,nssv684323,nssv666832,nssv663762,nssv671943,nssv693805,nssv656015,nssv664205,nssv685463,nssv673057,nssv664041,nssv651892,nssv691808,nssv652941,nssv668110,nssv692383,nssv672535,nssv661074,nssv667606,nssv679178,nssv661694,nssv660631,nssv680438,nssv684136,nssv692655,nssv673033,nssv657969,nssv681262,nssv659924,nssv675906,nssv693439,nssv690004,nssv663802,nssv659968,nssv679904,nssv676269,nssv661024,nssv685848,nssv661846,nssv661421,nssv674348,nssv693997,nssv667629,nssv654866,nssv663581,nssv692099,nssv684461,nssv669517,nssv682270,nssv680657,nssv681915,nssv675350,nssv664856,nssv665953,nssv679441,nssv658231,nssv660756,nssv671530,nssv667204,nssv667849,nssv691486,nssv661962,nssv683512,nssv683979,nssv674004,nssv676756,nssv676508,nssv693862,nssv687702,nssv681007,nssv671574,nssv675773,nssv692067,nssv692333,nssv686816,nssv685210,nssv685230,nssv691166,nssv655843,nssv660842,nssv688965,nssv666792,nssv685605,nssv658997,nssv653624,nssv677068,nssv664319,nssv664580,nssv655268,nssv687092,nssv689516,nssv651912,nssv692219,nssv666618,nssv687942,nssv668994,nssv653907,nssv674908,nssv687160,nssv690244,nssv687333,nssv666631,nssv684681,nssv660135,nssv689465,nssv692249,nssv689202,nssv660567,nssv677308,nssv659306,nssv683029,nssv675369,nssv690222,nssv656100,nssv666264,nssv684699,nssv653510,nssv690313,nssv683694 M 2026 0 120 "" dgv5704n71 4 124657292 124747408 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879871,nsv879872 M 6533 0 2 "" IS30171,MS22353 esv2445321 4 124674902 124676347 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303493 S 1 0 1 "" NA18507 nsv469710 4 124693736 124843172 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649731 M 265 0 0 Samples from several populations that are part of the HapMap project. LOC285419 esv2159830 4 124700967 124701423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516825 S 1 0 1 "" NA18507 nsv830047 4 124723501 124918592 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443924 S 95 1 0 LOC285419 nsv879873 4 124747902 124810319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577869 S 6533 0 1 LOC285419 IS34599 nsv879874 4 124770143 124826651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527430 S 6533 0 1 LOC285419 SP58416 esv33037 4 124780084 124783378 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100664 S 51 0 1 "" 21656 nsv830049 4 125013382 125175158 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443925 S 95 0 1 LOC285419 nsv879875 4 125041338 125124042 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544190 S 6533 0 1 LOC285419 MS16309 nsv879876 4 125066927 125127681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569251 S 6533 0 1 LOC285419 IS31554 dgv5705n71 4 125066927 125155148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879877,nsv879878 M 6533 0 2 LOC285419 IS31553,IS34599 nsv879879 4 125113222 125190559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594178 S 6533 0 1 "" IS39718 esv8004 4 125135335 125135397 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30445 S 1 1 0 "" SJK nsv822716 4 125157596 125158065 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425965 S 31 1 0 "" NA18947 esv2401226 4 125158609 125159123 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919533 S 1 0 1 "" NA18507 esv2526895 4 125162156 125165205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187269 S 1 0 1 "" NA18507 esv1973109 4 125162816 125164792 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853189 S 1 0 1 "" NA18507 esv2545417 4 125166081 125167062 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172396 S 1 1 0 "" NA18507 esv269003 4 125166649 125166969 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540823,essv2571653,essv2546402,essv2526109,essv2544120,essv2568211,essv2523341,essv2570716,essv2548526,essv2521694,essv2550553,essv2535015,essv2544351,essv2552025,essv2547444,essv2529414,essv2564624,essv2578061,essv2576421,essv2519969,essv2564040,essv2555100,essv2552598,essv2551790,essv2562601,essv2544651,essv2523588,essv2538362,essv2542938,essv2540641,essv2524568,essv2565136,essv2539888,essv2519523,essv2522298,essv2531158,essv2563753,essv2535843,essv2572412,essv2559212,essv2551138,essv2556243,essv2528048,essv2539300,essv2533826,essv2555340,essv2573995,essv2527567,essv2556063,essv2575754,essv2526367,essv2568770,essv2560389,essv2551527,essv2536002,essv2533342,essv2554518,essv2547882,essv2558132 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA10851,NA11831,NA11840,NA11881,NA11918,NA11992,NA11995,NA12004,NA12044,NA12045,NA12144,NA12155,NA12249,NA12414,NA12489,NA12717,NA12749,NA12751,NA12761,NA12814,NA12815,NA12828,NA12872,NA18502,NA18504,NA18507,NA18526,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18566,NA18571,NA18573,NA18603,NA18608,NA18609,NA18638,NA18858,NA18871,NA18907,NA18912,NA18916,NA18943,NA18951,NA18952,NA18956,NA19099,NA19114,NA19147,NA19190,NA19257 esv274114 4 125187227 125187581 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579018 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv270255 4 125187255 125187603 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510101,essv2500858,essv2496679,essv2502756,essv2508250,essv2499929,essv2506342,essv2507589,essv2512652,essv2508658,essv2510012,essv2504887,essv2497863,essv2503752,essv2495999,essv2495191,essv2502674,essv2512780,essv2495829 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11829,NA11830,NA11894,NA12892,NA18561,NA18562,NA18566,NA18576,NA18577,NA18592,NA18593,NA18942,NA18945,NA18960,NA18961,NA18964,NA18965,NA18980 esv1001176 4 125196777 125207875 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563670 S 3 0 1 "" HuRef nsv4499 4 125335081 125354198 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3279 S 9 1 0 "" NA12878 nsv517857 4 125366864 125467939 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695261 S 2026 1 0 "" nsv879880 4 125394267 125713997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577871 S 6533 0 1 "" IS34599 nsv507198 4 125408625 125414625 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622905 S 4 1 0 "" NA18994 nsv879881 4 125500302 125667738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570535 S 6533 0 1 "" IS32166 nsv4500 4 125511093 125556721 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7120 S 9 0 1 "" NA12156 nsv519372 4 125538335 125544407 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696818 S 2026 1 0 "" esv274344 4 125569683 125570028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580965,essv2579038,essv2579645 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv521095 4 125659116 125663854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682065,nssv684462 M 2026 0 2 "" esv1205134 4 125665971 125665971 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635320 S 2 1 0 "" HuRef esv272489 4 125771166 125771463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579850 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv270201 4 125771259 125771599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514820,essv2515110,essv2515230,essv2518886,essv2518400 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12812,NA19238,NA19239,NA19240 dgv1670e1 4 125857390 125869071 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv920,essv15911 M 271 0 0 "" NA19205 esv269753 4 125878441 125878771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526265,essv2556691,essv2568380,essv2577465,essv2576854,essv2550672,essv2535485,essv2553973,essv2552216,essv2520350,essv2564673,essv2553734,essv2576205,essv2554835,essv2530824,essv2562088,essv2569480,essv2538872,essv2561383,essv2523587,essv2524569,essv2519574,essv2566324,essv2567888,essv2541794,essv2559394,essv2551154,essv2543439,essv2556414,essv2562256,essv2573100,essv2530159,essv2573455,essv2575495,essv2575058,essv2538671,essv2526322,essv2574612,essv2530282,essv2568804,essv2545067,essv2549852,essv2536348,essv2538062,essv2533204,essv2554405 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA11918,NA11994,NA11995,NA12043,NA12154,NA12155,NA12249,NA12287,NA12489,NA12716,NA12751,NA12763,NA12814,NA12872,NA12873,NA12874,NA18508,NA18519,NA18523,NA18537,NA18555,NA18566,NA18572,NA18577,NA18592,NA18638,NA18858,NA18870,NA18871,NA18909,NA18942,NA18949,NA18964,NA19099,NA19102,NA19108,NA19114,NA19138,NA19141,NA19147,NA19172,NA19225 nsv879882 4 125882419 125923388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512414 S 6533 0 1 "" SP55507 esv2782 4 125891116 125891570 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25223 S 1 0 1 Single Asian sample YH "" YH esv8426 4 125891202 125891536 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30867 S 1 0 1 "" SJK nsv290860 4 125891203 125891521 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309438 M 24 "" esv269513 4 125901897 125901982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519133 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv437423 4 125925394 125927223 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467304 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19139 nsv830050 4 125937308 126108013 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443926 S 95 1 0 "" esv28610 4 125946783 125949468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15885 S 451 0 1 "" NA19108 nsv879883 4 125952184 125987435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514422 S 6533 0 1 "" SP56004 nsv4501 4 125967396 126002615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3280 S 9 1 0 "" NA12878 dgv5706n71 4 126010702 126075915 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879885,nsv879886,nsv879884 M 6533 0 3 "" IS31046,IS35229,MS17114 nsv470069 4 126027318 126070448 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546359 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199 esv273701 4 126032115 126032495 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579191,essv2579769 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269612 4 126032162 126032505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2564197,essv2546843,essv2520787,essv2569483,essv2523776,essv2552840,essv2538235,essv2561029,essv2549512,essv2531048,essv2532496,essv2528951,essv2541500,essv2570001,essv2553506,essv2550980,essv2569157,essv2528100,essv2531637,essv2543361,essv2576917 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA12828,NA12892,NA18498,NA18508,NA18537,NA18542,NA18547,NA18562,NA18564,NA18573,NA18576,NA18579,NA18592,NA18593,NA18605,NA18858,NA18861,NA18907,NA18961,NA18965,NA18970 dgv5707n71 4 126036233 126073198 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879888,nsv879889,nsv879887 M 6533 0 3 "" IS30925,IS31145,IS37065 nsv524519 4 126046076 126061537 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700465 S 2026 1 0 "" dgv5708n71 4 126047908 126070448 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879890,nsv879891 M 6533 0 2 "" IS36656,MS17697 nsv818268 4 126057350 126065568 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417860 S 112 1 0 "" NA18852 nsv516207 4 126061342 126065568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662932,nssv652630,nssv694885 M 2026 0 3 "" esv2651047 4 126086566 126088114 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361580 S 1 0 1 "" NA18507 esv2253201 4 126086632 126087333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809613 S 1 0 1 "" NA18507 esv3315 4 126086737 126087275 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25756 S 1 0 1 Single Asian sample YH "" YH esv999957 4 126086816 126087144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569257 S 3 0 1 "" HuRef esv1377633 4 126086823 126087152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636851 S 2 0 1 "" HuRef nsv289890 4 126086824 126087152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308468 M 24 "" esv6598 4 126086829 126087153 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29039 S 1 0 1 "" SJK esv270985 4 126197181 126197340 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507745,essv2510745,essv2494823,essv2497809,essv2507804,essv2500672,essv2512689,essv2508476,essv2510037,essv2503070,essv2502401,essv2493029,essv2509448,essv2511563 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12751,NA18501,NA18519,NA18555,NA18564,NA18571,NA18577,NA18582,NA18593,NA18943,NA18948,NA18951,NA19129 esv993126 4 126197197 126197197 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583818 S 3 1 0 "" HuRef esv1280307 4 126257592 126257592 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596184 S 2 1 0 "" HuRef esv271991 4 126271710 126272996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510714,essv2493302,essv2504255,essv2509740,essv2493656,essv2508740,essv2500029,essv2498522,essv2499113,essv2498732,essv2497452 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA18505,NA18508,NA18517,NA18532,NA18558,NA18858,NA19114,NA19138,NA19147 nsv830051 4 126454345 126622876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443927 S 95 0 1 FAT4 nsv470070 4 126518595 126628036 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546360 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAT4 HGDP00890 esv1340355 4 126707098 126707098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070381 S 2 1 0 "" HuRef nsv293666 4 126716985 126716985 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312244 M 24 "" nsv879892 4 126724051 126812754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568533 S 6533 0 1 "" IS31302 nsv461636 4 126759755 126812754 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538006 S 1557 0 1 "" NINDS_2 nsv830052 4 126797277 126969503 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443928,nssv1443930 M 95 1 1 "" nsv441912 4 126826946 126843898 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv879893 4 126868469 127043026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587242 S 6533 0 1 "" IS37999 nsv879894 4 126904793 126973595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591819 S 6533 0 1 "" IS39046 nsv528163 4 126913819 126915758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704712 S 2026 0 1 "" nsv879895 4 126929066 127145025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546103 S 6533 0 1 "" MS17114 nsv526040 4 127109776 127117710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702273 S 2026 0 1 "" nsv879896 4 127130364 127209102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531513 S 6533 0 1 "" MS10515 nsv830053 4 127136415 127316179 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443931 S 95 0 1 "" nsv879897 4 127194651 127284120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562486 S 6533 0 1 "" MS25617 nsv879898 4 127229301 127284120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560671 S 6533 0 1 "" MS24624 nsv879899 4 127238127 127451933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579815 S 6533 0 1 "" IS35181 nsv289502 4 127239825 127243688 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308080 M 24 "" nsv293416 4 127241576 127241653 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311994 M 24 "" nsv437425 4 127250011 127268817 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467306 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv2647784 4 127297689 127299143 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226488 S 1 0 1 "" NA18507 nsv508311 4 127322835 127344709 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622499 S 4 0 1 "" NA18994 dgv5709n71 4 127332877 127500638 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879901,nsv879900 M 6533 0 2 "" IS39011,MS23290 nsv830054 4 127375025 127550999 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443932 S 95 0 1 "" nsv879902 4 127423540 127500638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574714 S 6533 0 1 "" IS33616 nsv879903 4 127433353 127479734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576093 S 6533 0 1 "" IS33871 esv273404 4 127446160 127446491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584783,essv2583598 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv879904 4 127455165 127500638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594955 S 6533 0 1 "" IS40067 nsv879905 4 127484515 127528804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566900 S 6533 0 1 "" IS30976 nsv524303 4 127539352 127549187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700204 S 2026 0 1 "" nsv526498 4 127566849 127581841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702807 S 2026 0 1 "" nsv879906 4 127573523 127633702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546104 S 6533 0 1 "" MS17114 nsv4502 4 127615480 127649366 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8001 S 9 1 0 "" NA12156 esv274388 4 127661578 127661888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580886,essv2579241,essv2579487 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv272000 4 127661624 127661904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2551806,essv2569300,essv2550040,essv2536918,essv2539140,essv2527044,essv2541992,essv2550924,essv2543608,essv2556338,essv2539279,essv2529600,essv2560532,essv2574866,essv2530356,essv2568716,essv2560431,essv2549736,essv2545951,essv2551374 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18508,NA18511,NA18517,NA18519,NA18522,NA18856,NA18858,NA18870,NA18871,NA18912,NA19093,NA19116,NA19138,NA19141,NA19147,NA19190,NA19225,NA19239,NA19257 nsv524850 4 127690353 127988299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700852 S 2026 0 1 "" esv267483 4 127734279 127734429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517448,essv2516037,essv2517295 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12873,NA18970 esv2752024 4 127804147 127891392 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982456,essv6989305,essv6982457 M 771 0 1 "" BEC_447 esv2589363 4 127807420 127808953 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331985 S 1 0 1 "" NA18507 esv6921 4 127859836 127860138 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29362 S 1 0 1 "" SJK nsv879907 4 127866215 127929309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561576 S 6533 0 1 "" MS25101 nsv879908 4 127866215 127968840 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584557 S 6533 0 1 "" IS37065 dgv5710n71 4 127866215 128055127 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879910,nsv879909,nsv879911 M 6533 0 6 "" IS31617,IS33533,IS35100,IS36656,IS37226,IS41043 esv1034077 4 127912173 127912251 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000438 S 2 0 1 "" HuRef nsv818269 4 127919878 127946604 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416726 S 112 0 1 "" NA19159 nsv879912 4 127925503 127995013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567356 S 6533 0 1 "" IS31070 esv1636509 4 128001907 128002158 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326096 S 2 0 0 "" HuRef nsv830055 4 128014325 128213271 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443933 S 95 1 0 "" nsv879913 4 128064253 128167646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515694 S 6533 0 1 "" SP56248 esv2548118 4 128129680 128129853 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362059 S 1 0 1 "" NA18507 esv1006673 4 128132938 128134943 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563725 S 3 0 1 "" HuRef nsv879914 4 128224812 128343088 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556734 S 6533 0 1 "" MS22146 nsv879915 4 128386543 129370040 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520694 S 6533 1 0 C4orf29,HSPA4L,INTU,LARP1B,MFSD8,PLK4,SLC25A31 SP51219 nsv291504 4 128557773 128557830 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310082 M 24 "" nsv879916 4 128641850 128913738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559172 S 6533 0 1 INTU,SLC25A31 MS23768 esv271158 4 128663906 128664159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495057 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07051 dgv5711n71 4 128697858 129120852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879922,nsv879917 M 6533 0 2 C4orf29,HSPA4L,INTU,MFSD8,PLK4,SLC25A31 IS31145,MS22104 nsv830056 4 128736589 128896007 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443934 S 95 0 1 INTU,SLC25A31 dgv5712n71 4 128763192 128916969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879918,nsv879920,nsv879919 M 6533 0 4 INTU,SLC25A31 IS33763,IS41807,MS22797,MS25617 nsv879921 4 128773854 128985524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568569,nssv1591668,nssv1574267 M 6533 0 3 HSPA4L,INTU,SLC25A31 IS31306,IS33533,IS39011 nsv879923 4 128773854 129287629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566997 S 6533 0 1 C4orf29,HSPA4L,INTU,LARP1B,MFSD8,PLK4,SLC25A31 IS31041 nsv879924 4 128786136 128841880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503842 S 6533 0 1 INTU SP52117 nsv879925 4 128805691 128885431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505565 S 6533 0 1 INTU,SLC25A31 SP53687 nsv830057 4 128810738 129008227 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443935 S 95 0 1 HSPA4L,INTU,SLC25A31 dgv5713n71 4 128871677 128985524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879926,nsv879927 M 6533 0 2 HSPA4L,SLC25A31 IS30597,IS35181 nsv290569 4 128876493 128883735 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309147 M 24 SLC25A31 nsv437935 4 128909386 128923400 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468601,nssv468600 M 269 0 2 Samples from several populations that are part of the HapMap project. HSPA4L,SLC25A31 NA19132,NA19239 nsv879928 4 128935533 128981390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513186 S 6533 0 1 HSPA4L SP55694 nsv512834 4 129066806 129067381 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625471 S 1 1 0 MFSD8 1 esv2620539 4 129066827 129067048 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303408 S 1 1 0 MFSD8 NA18507 esv1374529 4 129092088 129092088 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202535 S 2 1 0 MFSD8 HuRef esv24873 4 129201508 129202843 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13297 S 451 0 1 LARP1B NA07045 nsv879929 4 129249103 129361529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514423 S 6533 0 1 LARP1B SP56004 esv274485 4 129426651 129426960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579928 S 7 1 0 Samples from several populations that are part of the HapMap project. PGRMC2 NA12892 esv271720 4 129426664 129427005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565677,essv2576109,essv2540738,essv2546309,essv2522691,essv2544181,essv2545635,essv2531779,essv2550462,essv2535087,essv2554019,essv2552135,essv2577656,essv2553543,essv2559626,essv2556859,essv2551797,essv2562638,essv2578640,essv2550023,essv2558759,essv2537141,essv2539002,essv2544801,essv2538428,essv2542706,essv2564962,essv2539544,essv2519777,essv2559272,essv2533952,essv2578157,essv2566570,essv2534402,essv2577069,essv2529539,essv2538807,essv2560730,essv2524264,essv2560824,essv2571403,essv2551313,essv2554384 M 157 43 0 Samples from several populations that are part of the HapMap project. PGRMC2 NA07346,NA11829,NA11830,NA11831,NA11881,NA11931,NA11992,NA12003,NA12006,NA12234,NA12249,NA12287,NA12489,NA12761,NA12763,NA12776,NA18501,NA18504,NA18507,NA18510,NA18511,NA18516,NA18517,NA18519,NA18526,NA18547,NA18550,NA18558,NA18563,NA18566,NA18638,NA18916,NA18940,NA18948,NA18959,NA18970,NA19093,NA19108,NA19116,NA19129,NA19137,NA19238,NA19257 nsv292512 4 129426699 129426699 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311090 M 24 PGRMC2 nsv4503 4 129477922 129512907 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3281 S 9 1 0 "" NA12878 nsv509928 4 129561597 129567597 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623959 S 4 0 1 "" NA18994 esv275440 4 129582069 129589323 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585554 S 1250 0 1 "" nsv519852 4 129747106 129794377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697086 S 2026 0 1 "" nsv879930 4 129749054 129817528 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515383 S 6533 1 0 "" SP56173 esv28570 4 129808349 129818421 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17932 S 451 1 0 "" NA12489 nsv526988 4 129901826 129907497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703361 S 2026 0 1 "" esv2439247 4 129917944 129920101 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222802 S 1 0 1 "" NA18507 esv2130988 4 129918287 129919498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654563 S 1 0 1 "" NA18507 nsv822717 4 129944235 129959312 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426611 S 31 1 0 PHF17 AK6 nsv517249 4 129957778 130147254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676828,nssv684082,nssv654121,nssv666372 M 2026 4 0 PHF17,SCLT1 nsv4504 4 129996818 130023409 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8002 S 9 0 1 PHF17 NA12156 nsv4505 4 130036000 130068662 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8003 S 9 1 0 SCLT1 NA12156 nsv522694 4 130081523 130214140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706104 S 2026 0 1 SCLT1 nsv879931 4 130159225 130397552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555493 S 6533 0 1 C4orf33,SCLT1 MS21397 nsv822718 4 130233821 130234276 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429754 S 31 1 0 SCLT1 AK14 esv32790 4 130273085 130277623 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98933,essv99781 M 51 2 0 "" 21606,22086 nsv511266 4 130279680 130292102 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624855 S 1 1 0 "" 1 esv32610 4 130281792 130284941 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97117 S 51 0 1 "" 22075 nsv509929 4 130284851 130290851 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618185 S 4 0 1 "" CHM nsv822719 4 130284973 130288031 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437400,nssv1425704,nssv1438109,nssv1427442,nssv1430539,nssv1431272,nssv1421661,nssv1427470,nssv1424158,nssv1439635 M 31 0 10 "" AK16,AK18,AK4,AK8,NA18537,NA18582,NA18592,NA18949,NA18951,NA18997 nsv820801 4 130285240 130288031 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420440 S 1 0 1 "" NA10851 esv271605 4 130285537 130285622 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516781,essv2519231,essv2514083,essv2518615,essv2516344,essv2518058,essv2515978,essv2514476,essv2517624,essv2513642 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11894,NA12043,NA12287,NA12814,NA12872,NA12873,NA12874,NA12878 esv273012 4 130285537 130285622 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581598 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv21541 4 130285614 130287920 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14699 S 451 19 4 "" NA06985,NA07045,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12749,NA12776,NA12828,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19147,NA19190 nsv822721 4 130285980 130287928 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433612,nssv1441023,nssv1422557,nssv1424934 M 31 0 4 "" AK2,NA18526,NA18552,NA18969 esv33148 4 130286209 130287853 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98862,essv100795,essv98216,essv96981,essv97241,essv100022 M 51 6 0 "" 21606,21656,21772,21817,22075,22086 esv1981903 4 130287909 130288613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787727 S 1 0 1 "" NA18507 esv32740 4 130293933 130299651 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98729,essv99846 M 51 0 2 "" 21606,22086 nsv527248 4 130306582 130308107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703650 S 2026 0 1 "" esv24257 4 130345834 130357415 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14766 S 451 0 1 "" NA07045 nsv830058 4 130355475 130534921 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443937,nssv1443936 M 95 2 0 "" nsv293074 4 130362737 130362806 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311652 M 24 "" nsv293184 4 130362751 130362984 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311762 M 24 "" esv1521695 4 130362938 130362938 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210560 S 2 1 0 "" HuRef nsv879932 4 130387092 130483967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559907 S 6533 1 0 "" MS24212 esv2480215 4 130434895 130439265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290264 S 1 0 1 "" NA18507 esv2362259 4 130435778 130439157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791466 S 1 0 1 "" NA18507 esv8092 4 130435968 130438934 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30533 S 1 0 1 "" SJK esv2455446 4 130499525 130503114 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246528 S 1 0 1 "" NA18507 esv1963016 4 130500093 130502582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856848 S 1 0 1 "" NA18507 nsv290744 4 130500281 130502386 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309322 M 24 "" esv28228 4 130500285 130502384 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20923 S 451 0 10 "" NA18508,NA18517,NA18523,NA18861,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190 nsv830060 4 130534517 130690475 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443938 S 95 1 0 "" esv272229 4 130621194 130621383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579366 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271364 4 130621195 130621554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509848,essv2494967,essv2506201,essv2498346,essv2497220,essv2508222,essv2500096,essv2505160,essv2507132,essv2502470,essv2504761,essv2509432,essv2512088,essv2498030 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18520,NA18523,NA18526,NA18552,NA18561,NA18573,NA18853,NA18870,NA18948,NA19099,NA19129,NA19238,NA19240 esv2462821 4 130626148 130627610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275303 S 1 0 1 "" NA18507 esv2051359 4 130626816 130627310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917220 S 1 0 1 "" NA18507 esv4471 4 130626919 130627280 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26912 S 1 0 1 Single Asian sample YH "" YH nsv290223 4 130627004 130627117 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308801 M 24 "" nsv4506 4 130690669 130723487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4781 S 9 1 0 "" NA19129 esv1661012 4 130715046 130715112 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984499 S 2 0 1 "" HuRef nsv437426 4 130722028 130742729 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467307 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv879933 4 130722028 130757562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596343 S 6533 0 1 "" IS40494 esv275438 4 130722274 130722390 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585298 S 1250 0 1 "" nsv437936 4 130726507 130737856 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468603,nssv468602 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv879934 4 130728060 130782026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601037 S 6533 0 1 "" IS41964 esv274971 4 130738362 130742536 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585346,essv2585876 M 1250 1 1 "" esv24703 4 130804651 130807029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13965 S 451 0 1 "" NA18511 esv2598987 4 130809623 130811319 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238618 S 1 0 1 "" NA18507 esv2417652 4 130810180 130810863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798525 S 1 0 1 "" NA18507 esv4669 4 130810333 130810755 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27110 S 1 0 1 Single Asian sample YH "" YH esv8716 4 130810345 130810665 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31157 S 1 0 1 "" SJK esv268510 4 130820779 130821769 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500628,essv2504936,essv2497865,essv2493062,essv2509369 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18571,NA18942,NA18945,NA18951,NA18953 nsv820813 4 130845590 130846158 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420441 S 1 0 1 "" NA10851 nsv822722 4 130845590 130846158 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436566,nssv1425706 M 31 2 0 "" AK4,NA18542 esv2262052 4 130845646 130846276 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725893 S 1 0 1 "" NA18507 esv3981 4 130845721 130846257 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26422 S 1 0 1 Single Asian sample YH "" YH nsv879935 4 130846622 130883527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537664 S 6533 0 1 "" MS13292 nsv822723 4 130922695 130923365 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433613 S 31 1 0 "" NA18526 nsv523994 4 130958073 130993462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699850 S 2026 0 1 "" nsv507199 4 130991622 130997622 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621765 S 4 1 0 "" NA10860 nsv507200 4 131028083 131034083 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620266 S 4 1 0 "" NA15510 esv273875 4 131032200 131032434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580719 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270070 4 131032241 131032577 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519063,essv2513791,essv2518892 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19143,NA19239 nsv512835 4 131151232 131152409 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625472 S 1 1 0 "" 1 esv1181558 4 131152088 131152088 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181972 S 2 1 0 "" HuRef nsv879936 4 131160942 131200985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515722 S 6533 0 1 "" SP56260 esv27199 4 131173867 131174423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19641 S 451 0 2 "" NA18508,NA19147 nsv461640 4 131181713 131223055 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538008 S 1557 0 1 "" NINDS_183 nsv293151 4 131262717 131263401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311729 M 24 "" nsv830061 4 131284295 131448160 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443939 S 95 1 0 "" nsv879937 4 131284586 131393538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586567 S 6533 0 1 "" IS37866 nsv879938 4 131329433 131414021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582936 S 6533 0 1 "" IS36219 dgv5714n71 4 131347083 131431891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879941,nsv879943,nsv879939,nsv879940,nsv879947,nsv879942,nsv879946,nsv879945,nsv879944 M 6533 0 27 "" IS30694,IS31044,IS31145,IS31259,IS31330,IS31401,IS31703,IS35107,IS35127,IS35263,IS36527,IS37065,IS39081,IS39248,IS41284,MS10699,MS12266,MS12827,MS13426,MS15036,MS15199,MS15704,MS18978,MS19634,MS20872,MS22104,MS23290 nsv470071 4 131352350 131417597 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546361 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891 nsv879948 4 131357211 131431891 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593227,nssv1582328 M 6533 1 1 "" IS35911,IS39373 nsv437427 4 131382445 131397917 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467308 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 nsv879949 4 131386506 131990526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591507 S 6533 0 1 "" IS38959 nsv830062 4 131395534 131533412 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443941 S 95 0 1 "" nsv10563 4 131401099 131491527 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14550 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv527784 4 131450404 131560102 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704275 S 2026 1 0 "" esv1158836 4 131550925 131550979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922718 S 2 0 1 "" HuRef esv275195 4 131609817 131618953 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586160 S 1250 0 1 "" esv2422209 4 131711255 131855503 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161393 S 181 1 0 "" ND01700 nsv879950 4 131727550 131780325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591061 S 6533 0 1 "" IS38630 dgv5715n71 4 131743634 131818630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879953,nsv879951,nsv879954 M 6533 0 3 "" IS31564,IS33811,IS39718 nsv879952 4 131743634 131849410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534378 S 6533 1 0 "" MS11556 nsv818270 4 131758945 131765043 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416340,nssv1416341 M 112 0 2 "" NA18855,NA18857 nsv461641 4 131759468 131808870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538009 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00088 nsv879955 4 131759468 131826690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587391 S 6533 1 0 "" IS38031 dgv5716n71 4 131782812 131860837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879957,nsv879956 M 6533 0 5 "" MS10735,MS14353,MS23977,MS25269,MS25305 nsv461642 4 131788598 131968777 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538010 S 1557 1 0 "" NINDS_22 nsv822724 4 131807317 131808258 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425708 S 31 1 0 "" AK4 dgv5717n71 4 131808870 131881633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879959,nsv879958 M 6533 0 2 "" SP55878,SP57367 esv2543465 4 131830236 131831869 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331249 S 1 0 1 "" NA18507 esv2146790 4 131830459 131831017 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594834 S 1 0 1 "" NA18507 esv5013 4 131830578 131830871 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27454 S 1 0 1 Single Asian sample YH "" YH esv1281332 4 131830702 131830764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129223 S 2 0 1 "" HuRef nsv509930 4 131836935 131842935 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618186,nssv623960,nssv622067 M 4 0 3 "" CHM,NA10860,NA18994 nsv879960 4 131839933 131907455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572918 S 6533 0 1 "" IS33196 esv1405757 4 131843162 131843162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801282 S 2 1 0 "" HuRef esv270205 4 131845016 131845367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496824,essv2511746,essv2509707,essv2506276,essv2504829,essv2498871 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18508,NA18523,NA19099,NA19138 nsv879961 4 131860837 131881633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499594 S 6533 0 1 "" SP50156 esv259708 4 131876849 131877216 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394793,essv2398094,essv2399957,essv2395417,essv2395616,essv2399220,essv2398562,essv2396504,essv2399447,essv2398219,essv2395346,essv2400995,essv2396458,essv2397020 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA12144,NA12156,NA12749,NA18501,NA18508,NA18516,NA18517,NA18858,NA18909,NA18916,NA19099,NA19138,NA19239 esv259457 4 131876852 131877197 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394071 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv2235456 4 131914125 131914724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757668 S 1 0 1 "" NA18507 esv4446 4 131914236 131914582 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26887 S 1 0 1 Single Asian sample YH "" YH esv5922 4 131914265 131914525 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28363 S 1 0 1 "" SJK nsv526582 4 131914881 131952971 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702900 S 2026 1 0 "" esv7211 4 131924829 131924922 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29652 S 1 1 0 "" SJK nsv879962 4 131968777 132100442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572919 S 6533 0 1 "" IS33196 nsv879963 4 132030880 132218409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522090 S 6533 0 1 "" SP52723 nsv879964 4 132050479 132116590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555626,nssv1532616 M 6533 0 2 "" MS10797,MS21470 nsv879965 4 132053855 132182895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503397 S 6533 1 0 "" SP52052 nsv830063 4 132059363 132220159 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443942 S 95 0 1 "" nsv526955 4 132061889 132105831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703327 S 2026 0 1 "" dgv1671e1 4 132081527 132624772 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24162,essv18838,essv23709,essv21377 M 271 0 0 "" NA12740,NA12751 esv511 4 132081527 133224934 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 "" nsv879966 4 132088700 132408548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591669 S 6533 0 1 "" IS39011 dgv188e55 4 132115587 132633592 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34850,esv35031,esv2752025 M 771 3 0 "" NA12740,NA12751,SPC_63 nsv822725 4 132144256 132144989 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424935 S 31 1 0 "" AK2 nsv830064 4 132150724 132300967 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443943 S 95 0 1 "" dgv5718n71 4 132160783 132408548 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879968,nsv879967 M 6533 0 2 "" IS31046,MS17114 nsv515647 4 132160783 132567339 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661579,nssv685911,nssv664234 M 2026 3 0 "" nsv10564 4 132163443 132582423 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12639,nssv14580,nssv13512,nssv12415 M 31 1 3 Samples from several populations that are part of the HapMap project. "" NA12740,NA18502,NA18980,NA19221 nsv441913 4 132165824 132577643 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv461643 4 132165825 132567339 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538011 S 1557 1 0 "" 1780862457_A nsv818271 4 132165825 132567339 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415952,nssv1415951 M 112 2 0 "" NA12740,NA12751 nsv509931 4 132253845 132259845 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621246 S 4 0 1 "" NA15510 nsv525200 4 132319871 132746791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701281 S 2026 0 1 "" nsv4507 4 132339483 132361665 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10421 S 9 1 0 "" NA18956 nsv291740 4 132341985 132342184 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310318 M 24 "" esv26405 4 132342057 132343050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10569 S 451 0 1 "" NA12828 nsv879969 4 132345721 132505306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562488 S 6533 0 1 "" MS25617 nsv830065 4 132353704 132557766 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443944 S 95 1 0 "" nsv470072 4 132384375 132486892 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546362 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356 nsv292256 4 132393890 132393890 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310834 M 24 "" esv992423 4 132393898 132393902 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566996 S 3 1 0 "" HuRef esv268714 4 132401066 132407169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503207,essv2504458,essv2499345,essv2507941,essv2502858,essv2493477,essv2508882,essv2500246,essv2502768,essv2500422,essv2497218,essv2500600,essv2496043,essv2501595,essv2503880 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11881,NA11993,NA11994,NA12003,NA12156,NA12763,NA12878,NA12891,NA12892,NA18537,NA18552,NA18571,NA18603,NA18608 esv273233 4 132401080 132407173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582072,essv2582728,essv2583246 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1001226 4 132401097 132401111 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565496 S 3 1 0 "" HuRef nsv879970 4 132410978 132525024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520066 S 6533 0 1 "" SP50672 nsv879971 4 132412892 132471369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507581 S 6533 0 1 "" SP54579 esv2629123 4 132415136 132417603 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288009 S 1 0 1 "" NA18507 dgv1672e1 4 132443259 133150176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5722,essv9923,essv3547 M 271 0 0 "" NA18593,NA18965,NA19145 nsv830066 4 132469344 132565991 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443945 S 95 1 0 "" esv271877 4 132506884 132507241 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501663,essv2496758,essv2494667,essv2503359,essv2494580,essv2497752,essv2499933,essv2507912,essv2494472,essv2508416,essv2507493,essv2505325,essv2509327,essv2511089,essv2502454,essv2497398,essv2495960,essv2502737,essv2500795,essv2512811,essv2506849,essv2501827,essv2498035,essv2502112 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA18498,NA18519,NA18542,NA18550,NA18555,NA18562,NA18564,NA18572,NA18582,NA18638,NA18853,NA18909,NA18944,NA18948,NA18959,NA18961,NA18965,NA18973,NA18980,NA19102,NA19239,NA19240,NA19257 esv273067 4 132506888 132507244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581000,essv2579527 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267905 4 132518280 132518414 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493221,essv2509715,essv2501129,essv2499952,essv2508315 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18508,NA18516,NA18558,NA18561 nsv830067 4 132518687 132615717 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443946 S 95 1 0 "" nsv879972 4 132579857 132618499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517735 S 6533 0 1 "" SP57367 nsv879973 4 132601827 132705001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565933,nssv1579614 M 6533 0 2 "" IS30539,IS35145 dgv5719n71 4 132628012 132705001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879975,nsv879974 M 6533 0 3 "" IS30432,IS34856,IS39716 essv23708 4 132643821 132717336 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12740 nsv10565 4 132653724 132656252 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12899 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 dgv5720n71 4 132668356 132814561 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879977,nsv879976 M 6533 0 2 "" IS31373,MS15199 esv2532644 4 132709414 132713774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380497 S 1 0 1 "" NA18507 esv2310486 4 132709671 132713264 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001833 S 1 0 1 "" NA18507 nsv10566 4 132709825 132713760 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12841,nssv13544,nssv12538,nssv12320,nssv13783 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA18853,NA19144,NA19240 nsv292243 4 132709859 132713083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310821 M 24 "" esv21690 4 132709954 132713048 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12714 S 451 0 4 "" NA18517,NA18907,NA18916,NA19240 nsv4508 4 132733210 132778149 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8004 S 9 0 1 "" NA12156 essv23695 4 132745301 132821753 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12740 nsv879978 4 132772835 132869027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522005 S 6533 0 1 "" SP52694 esv28086 4 132778147 133121338 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12624,esv19423,esv15035,esv11025,esv18692,esv19857,esv14068,esv10792,esv18641,esv10755,esv11212,esv17061,esv11816 M 451 18 9 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12006,NA12239,NA12287,NA12414,NA12776,NA12878,NA15510,NA18502,NA18505,NA18517,NA18858,NA18861,NA18909,NA18916,NA19129,NA19190,NA19240,NA19257 nsv10567 4 132796714 132863735 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12077 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv509932 4 132797629 132803629 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623961,nssv621247 M 4 0 2 "" NA15510,NA18994 nsv830068 4 132800226 133019947 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443947 S 95 0 1 "" nsv821123 4 132800858 132863745 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420442 S 1 1 0 "" NA10851 nsv437938 4 132807132 132814561 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468604,nssv468606,nssv468605 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA06994,NA12864,NA12872 dgv1673e1 4 132816887 132947048 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10462,essv2868 M 271 0 0 "" NA18515,NA18953 nsv428450 4 132816887 133150176 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450139,nssv450136,nssv450138,nssv454629,nssv450141,nssv450133,nssv450135,nssv454628,nssv450137,nssv454627,nssv454630,nssv454623,nssv454624,nssv450134 M 62 14 0 "" HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00473,HGDP00476,HGDP00478,HGDP00984,HGDP01086,HGDP01088,HGDP01089,NA18498 dgv1674e1 4 132816887 133224934 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17561,essv14384,essv3213,essv21289,essv14139,essv8325,essv20279,essv15141,essv11976,essv9426,essv5265,essv1763,essv3774,essv24292,essv908,essv22106,essv7758,essv12760,essv21323,essv6003,essv15530,essv5593,essv12607,essv5786,essv7613,essv11080,essv11652,essv24786,essv1877,essv843,essv24426,essv1035,essv17319,essv6946,essv10903,essv16630,essv3136,essv7357,essv12301,essv17000,essv23506,essv1433,essv4874,essv15547,essv19633,essv9228,essv6782,essv12692,essv5104,essv8249,essv10206,essv18444,essv5388,essv2248,essv21674,essv6840,essv19440,essv4043,essv2784,essv23435,essv14463,essv4630,essv9338,essv10666,essv19222,essv21166,essv13765,essv24595,essv11501,essv6597,essv18159,essv15319,essv21417,essv17164,essv2017,essv16743,essv7278,essv15681,essv682,essv9700,essv15782,essv24878,essv13193,essv17968,essv1618,essv12854,essv3798,essv23214,essv9079,essv18287,essv18949,essv17784,essv3405,essv16194,essv3722,essv22813,essv20658,essv14732,essv487,essv1938,essv16395,essv11924,essv8477,essv16862,essv2680,essv7036,essv115,essv5190,essv20426,essv3997,essv14059,essv10288 M 271 0 0 "" NA07000,NA07034,NA10830,NA10831,NA10838,NA10846,NA10854,NA10855,NA10856,NA10857,NA10860,NA11830,NA11831,NA11840,NA11992,NA11993,NA12003,NA12004,NA12005,NA12144,NA12155,NA12156,NA12248,NA12707,NA12717,NA12762,NA12878,NA12892,NA18500,NA18502,NA18505,NA18506,NA18507,NA18516,NA18517,NA18529,NA18542,NA18545,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18577,NA18579,NA18582,NA18592,NA18594,NA18611,NA18612,NA18621,NA18624,NA18635,NA18853,NA18855,NA18856,NA18861,NA18862,NA18872,NA18912,NA18913,NA18914,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18952,NA18959,NA18961,NA18966,NA18967,NA18968,NA18969,NA18970,NA18973,NA18974,NA18975,NA18976,NA18987,NA18997,NA19000,NA19005,NA19098,NA19102,NA19103,NA19116,NA19120,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19144,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19173,NA19201,NA19205,NA19208,NA19209,NA19211 dgv5721n71 4 132820219 132977337 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879979,nsv879987,nsv879984 M 6533 3 0 "" IS31722,IS39243,SP58241 nsv879980 4 132832564 132906627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550104 S 6533 1 0 "" MS18290 nsv879981 4 132832564 133036271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527668 S 6533 0 1 "" SP80919 dgv5722n71 4 132851078 132909293 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv879983,nsv879982,nsv879985 M 6533 9 0 "" IS31218,IS37353,IS38379,MS11032,MS15198,MS16898,MS18101,MS19705,SP52694 nsv508312 4 132858154 132919982 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619942 S 4 0 1 "" NA15510 nsv509016 4 132858154 132921105 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618027,nssv619384,nssv623417 M 4 3 0 "" CHM,NA10860,NA18994 nsv879986 4 132859693 132935510 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558285,nssv1531354,nssv1578519 M 6533 2 1 "" IS34803,MS10400,MS23191 nsv10568 4 132861324 133115173 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14610,nssv14640,nssv13491,nssv12136,nssv12633,nssv12871,nssv13461,nssv12137,nssv12669,nssv13813 M 31 5 5 Samples from several populations that are part of the HapMap project. "" NA07048,NA12740,NA18504,NA18552,NA18563,NA18860,NA19221,NA19240 nsv4510 4 132861714 132909177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3282,nssv11091 M 9 0 2 "" NA12878,NA15510 nsv820605 4 132863746 132905650 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420443 S 1 0 1 "" NA10851 nsv879988 4 132869027 132935510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548185,nssv1538820,nssv1524846 M 6533 3 0 "" MS13774,MS17730,SP55339 nsv260 4 132873505 132909177 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv260 S 1 0 1 "" NA15510 esv988373 4 132876558 132884029 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577289 S 3 0 1 "" HuRef nsv4511 4 132891644 132904879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3283 S 9 1 0 "" NA12878 dgv1675e1 4 132976657 133150176 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv302,essv14895,essv214,essv4144,essv592,essv10002,essv7151,essv8805,essv6168,essv1246,essv12465,essv11032,essv7372,essv13039,essv24731,essv13868,essv8335,essv13451,essv17700,essv20619,essv1172,essv10097 M 271 0 0 "" NA07056,NA11829,NA12872,NA18508,NA18522,NA18532,NA18547,NA18555,NA18623,NA18852,NA18854,NA18858,NA18948,NA18951,NA18978,NA18995,NA18998,NA19099,NA19130,NA19143,NA19192,NA19207 nsv830069 4 132985408 133161794 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443950,nssv1443954,nssv1443953,nssv1443956,nssv1443952,nssv1443955,nssv1443948,nssv1443949 M 95 1 7 "" nsv879989 4 132992517 133220977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593228 S 6533 1 0 "" IS39373 nsv879990 4 133003296 133265246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584997 S 6533 0 1 "" IS37226 nsv879991 4 133018806 133138553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518131 S 6533 0 1 "" SP57469 dgv5723n71 4 133099653 133196339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879993,nsv879994,nsv879992 M 6533 0 4 "" IS31189,IS31729,IS36527,SP56084 dgv5724n71 4 133099653 133265246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879996,nsv879995,nsv879997 M 6533 0 5 "" IS30593,IS31067,IS34896,IS35771,MS17114 esv1002400 4 133115448 133119533 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586306 S 3 1 0 "" HuRef nsv470073 4 133121505 133320544 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546366,nssv546363,nssv546368,nssv546367 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01049,HGDP01060,HGDP01061,HGDP01223 dgv5725n71 4 133152306 133218512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv879998,nsv879999 M 6533 0 5 "" SP52925,SP56119,SP56172,SP57368,SP57455 dgv5726n71 4 133152306 133242091 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880001,nsv880000 M 6533 0 2 "" IS33507,SP50128 nsv880002 4 133189681 133302449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557761 S 6533 0 1 "" MS22858 nsv10569 4 133190189 133192667 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12663,nssv12699 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA12740 esv23774 4 133191305 133192473 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19296 S 451 0 1 "" NA07045 nsv880003 4 133266750 133733441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546107 S 6533 0 1 "" MS17114 esv2420125 4 133287422 133287875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616081 S 1 0 1 "" NA18507 esv1051403 4 133287636 133287724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909023 S 2 0 1 "" HuRef dgv5727n71 4 133312540 133455972 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880004,nsv880005 M 6533 0 2 "" IS31046,IS35107 dgv171n6 4 133319478 133319816 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292874,nsv292505 M 24 "" esv999307 4 133333257 133333943 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564526 S 3 0 1 "" HuRef esv1240534 4 133333503 133333822 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105828 S 2 0 1 "" HuRef esv272582 4 133337252 133337546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579383 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267586 4 133337260 133337575 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540896,essv2571561,essv2546325,essv2536529,essv2544142,essv2577281,essv2548499,essv2521603,essv2550594,essv2535014,essv2544513,essv2551951,essv2520353,essv2558619,essv2564396,essv2537542,essv2528287,essv2520887,essv2557571,essv2563860,essv2543645,essv2551608,essv2536110,essv2533083,essv2558035 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA10851,NA11831,NA11840,NA11881,NA11920,NA11992,NA12043,NA12045,NA12144,NA12155,NA12249,NA12414,NA12489,NA12716,NA12750,NA12751,NA12878,NA12891,NA18498,NA18499,NA18603,NA18870,NA19257 esv1368075 4 133337292 133337292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854866 S 2 1 0 "" HuRef dgv1676e1 4 133373310 133517599 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv213,essv17839 M 271 0 0 "" NA10831 nsv461645 4 133379705 133512572 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538012 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01167 dgv5728n71 4 133380187 133498363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880006,nsv880011 M 6533 0 6 "" IS31074,IS35771,IS35911,IS39944,MS10727,MS18847 dgv5729n71 4 133380187 133669279 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880007,nsv880025,nsv880024,nsv880012,nsv880027 M 6533 0 5 "" IS33196,IS34962,IS35229,IS39011,IS41113 nsv880008 4 133384129 133432328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540277 S 6533 0 1 "" MS14779 dgv5730n71 4 133384129 133455972 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880015,nsv880014,nsv880010,nsv880009 M 6533 0 4 "" IS31330,IS39716,MS15199,MS18978 dgv5731n71 4 133385348 133728420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880028,nsv880013,nsv880019,nsv880020 M 6533 0 5 "" IS31044,IS31137,IS31179,IS35083,MS11467 nsv10570 4 133393243 133402830 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12678,nssv13521,nssv13508,nssv13574,nssv12015,nssv12350,nssv12929,nssv12157,nssv29197,nssv12022,nssv11976,nssv12901,nssv12475,nssv11509,nssv13542,nssv12534,nssv12568,nssv11651,nssv12122 M 31 0 19 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18517,NA18537,NA18564,NA18572,NA18853,NA18860,NA18942,NA18975,NA18980,NA19144,NA19173,NA19240 nsv819229 4 133393730 133402580 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418558 S 2 0 1 "" AK1 nsv822726 4 133393743 133402307 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425518 S 31 0 1 "" NA18968 dgv5732n71 4 133396347 133498363 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880016,nsv880017,nsv880021 M 6533 0 3 "" IS31617,MS20857,SP50128 nsv880018 4 133396347 133498363 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569573,nssv1571239 M 6533 1 1 "" IS31634,IS32653 esv26251 4 133398342 133402360 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17343,esv19652,esv9770 M 451 0 17 "" NA11995,NA12004,NA12239,NA12287,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18861,NA19108,NA19114,NA19147,NA19190,NA19225 nsv511240 4 133398375 133400905 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624566 S 1 0 1 "" 1 nsv513164 4 133400039 133402956 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626660 S 1 0 1 "" 1 dgv895n67 4 133400663 133402524 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822728,nsv822727 M 31 0 17 "" AK14,AK18,AK2,AK6,AK8,NA18537,NA18542,NA18552,NA18564,NA18570,NA18582,NA18942,NA18947,NA18949,NA18972,NA18973,NA18997 dgv5733n71 4 133432328 133512572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880026,nsv880023,nsv880022 M 6533 0 3 "" IS32607,IS35100,MS18217 nsv10571 4 133468287 133476947 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12693 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv822729 4 133480722 133490937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428229 S 31 1 0 "" AK10 dgv5734n71 4 133516031 133733441 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880031,nsv880030,nsv880032,nsv880029 M 6533 0 9 "" IS30593,IS31070,IS31554,IS31581,IS35771,IS35911,MS12266,MS14737,MS17611 nsv880033 4 133516031 133905087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541123 S 6533 0 1 "" MS15199 nsv526815 4 133567210 133576654 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703169 S 2026 1 0 "" nsv880034 4 133576654 133748662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564128 S 6533 0 1 "" IS30171 esv2118795 4 133584749 133585191 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503093 S 1 0 1 "" NA18507 nsv830071 4 133614446 133767185 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443957,nssv1443958,nssv1443960,nssv1443959 M 95 4 0 "" nsv880035 4 133620388 133733441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598594 S 6533 0 1 "" IS41043 nsv818272 4 133638726 133650871 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418365 S 112 1 0 "" NA10847 nsv4512 4 133657902 133690958 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8006 S 9 1 0 "" NA12156 esv2207992 4 133664680 133665347 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980759 S 1 0 1 "" NA18507 esv2792 4 133664854 133665235 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25233 S 1 0 1 Single Asian sample YH "" YH esv993618 4 133664881 133665150 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576439 S 3 0 1 "" HuRef esv1067703 4 133664882 133665152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298620 S 2 0 1 "" HuRef nsv880036 4 133733441 134071884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535192 S 6533 0 1 "" MS12071 esv27142 4 133748338 133748843 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21295 S 451 0 1 "" NA12239 dgv5735n71 4 133824015 133922718 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880037,nsv880038 M 6533 0 2 "" IS41043,SP52094 nsv515860 4 133828913 133842654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669322,nssv662823,nssv670169,nssv658025,nssv689403,nssv687890,nssv669661,nssv687591,nssv665046 M 2026 0 9 "" nsv880039 4 133828913 133969969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600088 S 6533 0 1 "" IS41839 esv2400957 4 133839152 133839825 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857862 S 1 0 1 "" NA18507 esv5378 4 133839287 133839786 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27819 S 1 0 1 Single Asian sample YH "" YH esv9220 4 133839321 133839630 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31661 S 1 0 1 "" SJK esv1188601 4 133839340 133839646 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236448 S 2 0 1 "" HuRef nsv470074 4 133841121 133922718 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546369 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv461646 4 133841122 133922718 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538013 S 1557 0 1 "" 1798860567_A nsv818273 4 133905087 133951325 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415636 S 112 0 1 "" NA10835 nsv4513 4 133908662 133942929 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv414 S 9 1 0 "" NA19240 nsv470075 4 133922718 134006023 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546371,nssv546370 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01323,HGDP01412 nsv4514 4 133939272 133947883 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8007 S 9 0 1 "" NA12156 dgv5736n71 4 133941010 134071884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880043,nsv880040,nsv880045 M 6533 0 5 "" IS30925,IS31335,IS35911,IS40067,MS23670 dgv5737n71 4 133948302 134053188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880042,nsv880041,nsv880044 M 6533 0 3 "" IS31904,IS35145,IS41113 nsv4515 4 133951044 133996377 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7121 S 9 0 1 "" NA12156 nsv470076 4 133969969 134126251 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546372,nssv546373 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00893,HGDP01061 dgv5738n71 4 133970308 134125449 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880047,nsv880046 M 6533 0 3 "" IS33533,IS35181,IS35236 nsv880048 4 133975895 134030001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513329 S 6533 0 1 "" SP55747 dgv5739n71 4 134006023 134204040 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880050,nsv880049 M 6533 0 2 "" IS30539,IS36722 esv28701 4 134007002 134029943 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15973 S 451 1 0 "" NA15510 esv273587 4 134030988 134031268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579351,essv2579564 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271951 4 134031048 134031368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536379,essv2540212,essv2557375,essv2578843,essv2558860,essv2539215,essv2539546,essv2541893,essv2528076,essv2562470,essv2534168,essv2530166,essv2575723,essv2538827,essv2526394,essv2574924,essv2530369,essv2545966 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA18489,NA18499,NA18510,NA18516,NA18519,NA18563,NA18856,NA18907,NA18909,NA18916,NA18949,NA19099,NA19108,NA19114,NA19138,NA19141,NA19239 esv2607242 4 134038083 134039655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331090 S 1 0 1 "" NA18507 esv2179630 4 134038854 134039588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536643 S 1 0 1 "" NA18507 esv5178 4 134039013 134039538 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27619 S 1 0 1 Single Asian sample YH "" YH esv8529 4 134039057 134039375 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30970 S 1 0 1 "" SJK esv1279841 4 134039063 134039386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800371 S 2 0 1 "" HuRef esv275280 4 134042257 134045705 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585119,essv2585798 M 1250 1 1 "" nsv293223 4 134043255 134043255 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311801 M 24 "" esv1405586 4 134043256 134043256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272488 S 2 1 0 "" HuRef esv2315573 4 134044115 134044506 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507870 S 1 0 1 "" NA18507 nsv880051 4 134049685 134161677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504353 S 6533 0 1 "" SP52439 nsv518649 4 134078380 134138196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696098 S 2026 0 1 "" nsv508313 4 134091501 134101718 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619943 S 4 0 1 "" NA15510 nsv830072 4 134143145 134267032 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443961,nssv1443965,nssv1443964 M 95 1 2 "" nsv508314 4 134152944 134184093 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619944 S 4 0 1 "" NA15510 nsv4516 4 134163327 134193653 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10422 S 9 1 0 "" NA18956 esv4283 4 134181690 134181911 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26724 S 1 0 1 Single Asian sample YH "" YH esv1342411 4 134181761 134181843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621294 S 2 0 1 "" HuRef esv274926 4 134288085 134290230 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585807,essv2585528 M 1250 1 1 PCDH10 nsv470078 4 134315134 134387993 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546374 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCDH10 HGDP00655 nsv830073 4 134334526 134478079 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443967,nssv1443966,nssv1443970,nssv1443969,nssv1443968,nssv1443972,nssv1443971 M 95 0 7 "" nsv513165 4 134351042 134353572 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626661 S 1 0 1 "" 1 esv2428310 4 134351429 134353537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181208 S 1 0 1 "" NA18507 esv1010629 4 134351862 134352474 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581944 S 3 0 1 "" HuRef esv1543268 4 134351891 134352495 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771887 S 2 0 1 "" HuRef nsv290518 4 134352100 134352703 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309096 M 24 "" esv2421917 4 134352228 134352498 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5141250,essv5108970,essv5014070,essv5157669,essv5084401,essv5157819,essv5051238,essv5088500,essv5093273,essv5057614,essv5080203,essv5158117,essv5016842,essv5093133,essv5063636,essv5044906,essv5075864,essv5160661,essv5089763,essv5115505,essv5161145,essv5144659,essv5087344,essv5111556,essv5134424,essv5131600,essv5043106,essv5008161,essv5135776,essv5033451,essv5030768,essv5146627,essv5010891,essv5065956,essv5098144,essv5035860,essv5117165,essv5137469,essv5098277,essv5058281,essv5052380,essv5019231,essv5153230,essv5078095,essv5028071,essv5136702,essv5106116,essv5074648,essv5153251,essv5143560,essv5155452,essv5150364,essv5083271,essv5126511,essv5022155,essv5045502,essv5011192,essv5133583,essv5052430,essv5142403,essv5093106,essv5050751,essv5095339,essv5074562,essv5138889,essv5086205,essv5082841,essv5081543,essv5052590,essv5033353,essv5116635,essv5111423,essv5056697,essv5040211,essv5063544,essv5102327,essv5071237,essv5043104,essv5092535,essv5135158,essv5113483,essv5085844,essv5079771,essv5056140,essv5042125,essv5021949,essv5111436,essv5157290,essv5052690,essv5142720,essv5156920,essv5147706,essv5081148,essv5078255,essv5064755,essv5081557,essv5049847,essv5013006,essv5109953,essv5003865,essv5139683,essv5026937,essv5014185,essv5072212,essv5036716,essv5007986,essv5040894,essv5121521,essv5094437,essv5012866,essv5138468,essv5154737,essv5133387,essv5128601,essv5086609,essv5092211,essv5038217,essv5040151,essv5046805,essv5050326,essv5092458,essv5106444,essv5093921,essv5110910,essv5105752,essv5137419,essv5050633,essv5067268,essv5144831,essv5043467,essv5027436,essv5026784,essv5004863,essv5105849,essv5130000,essv5096388,essv5114688,essv5142860,essv5006412,essv5069900,essv5010776,essv5094759,essv5143925,essv5111062,essv5134332,essv5036980,essv5133712,essv5008443,essv5060675,essv5145111,essv5076393,essv5062640,essv5131479,essv5065962,essv5080279,essv5121366,essv5050864,essv5090762,essv5012962,essv5136188,essv5120805,essv5106686,essv5120897,essv5159140,essv5142928,essv5018718,essv5082678,essv5070535,essv5064752,essv5070951,essv5156055,essv5093638,essv5153908,essv5080670,essv5062295,essv5132505,essv5125702,essv5079746,essv5134826,essv5069874,essv5099866,essv5125439,essv5059508,essv5150361,essv5098972,essv5111557,essv5122424,essv5020832,essv5122838,essv5127620,essv5118108,essv5003783 M 1184 192 0 "" NA11829,NA11930,NA12003,NA12341,NA12707,NA12716,NA17979,NA17981,NA17986,NA18133,NA18139,NA18140,NA18157,NA18161,NA18485,NA18489,NA18508,NA18515,NA18516,NA18524,NA18526,NA18534,NA18537,NA18542,NA18543,NA18550,NA18611,NA18613,NA18620,NA18621,NA18630,NA18682,NA18740,NA18757,NA18862,NA18863,NA18868,NA18869,NA18871,NA18909,NA18942,NA18945,NA18953,NA18962,NA18969,NA18971,NA18972,NA18973,NA18979,NA19000,NA19009,NA19010,NA19027,NA19031,NA19041,NA19057,NA19058,NA19062,NA19063,NA19065,NA19084,NA19086,NA19107,NA19109,NA19114,NA19115,NA19121,NA19138,NA19139,NA19147,NA19149,NA19152,NA19154,NA19181,NA19182,NA19185,NA19186,NA19204,NA19207,NA19221,NA19223,NA19257,NA19258,NA19310,NA19316,NA19318,NA19327,NA19328,NA19347,NA19352,NA19371,NA19379,NA19391,NA19394,NA19399,NA19403,NA19428,NA19437,NA19439,NA19452,NA19457,NA19462,NA19467,NA19468,NA19469,NA19474,NA19625,NA19652,NA19653,NA19654,NA19656,NA19670,NA19671,NA19684,NA19701,NA19704,NA19705,NA19712,NA19713,NA19714,NA19716,NA19718,NA19747,NA19761,NA19763,NA19794,NA19796,NA19818,NA19828,NA19985,NA20289,NA20317,NA20332,NA20333,NA20336,NA20341,NA20347,NA20363,NA20364,NA20504,NA20516,NA20540,NA20582,NA20760,NA20790,NA20801,NA20813,NA20815,NA20816,NA20845,NA20850,NA20854,NA20866,NA20873,NA20874,NA20879,NA20884,NA20889,NA20898,NA20906,NA21118,NA21307,NA21309,NA21311,NA21314,NA21318,NA21320,NA21352,NA21359,NA21360,NA21361,NA21400,NA21435,NA21486,NA21493,NA21494,NA21513,NA21526,NA21527,NA21574,NA21575,NA21583,NA21613,NA21634,NA21636,NA21693,NA21733,NA21738,NA21741,NA21784,NA21825,NA21826 nsv830074 4 134359772 134548319 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443973 S 95 0 1 "" esv2581432 4 134360738 134362330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191872 S 1 0 1 "" NA18507 esv2117679 4 134360859 134361581 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641047 S 1 0 1 "" NA18507 esv4557 4 134361014 134361424 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26998 S 1 0 1 Single Asian sample YH "" YH esv8047 4 134361065 134361360 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30488 S 1 0 1 "" SJK esv1604552 4 134361067 134361376 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319906 S 2 0 1 "" HuRef nsv292829 4 134361068 134361376 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311407 M 24 "" esv1010902 4 134361719 134362099 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565490 S 3 0 1 "" HuRef dgv5740n71 4 134387993 134541739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880052,nsv880053 M 6533 0 3 "" IS30522,IS31554,IS31729 esv24215 4 134393015 134396216 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21177 S 451 0 1 "" NA19190 nsv830075 4 134450123 134636219 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443975 S 95 1 0 "" nsv4517 4 134507914 134549223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8008 S 9 0 1 "" NA12156 esv9251 4 134514990 134515316 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31692 S 1 0 1 "" SJK nsv523772 4 134611530 134622641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699594 S 2026 0 1 "" nsv880054 4 134680945 134809530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503685 S 6533 0 1 "" SP52094 esv2272056 4 134702729 134703140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680429 S 1 0 1 "" NA18507 esv2496518 4 134707283 134708283 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271192 S 1 1 0 "" NA18507 esv273919 4 134707557 134707859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579218 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268697 4 134707562 134707892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542463,essv2543915,essv2576632,essv2553963,essv2577985,essv2561881,essv2539956,essv2557079,essv2562679,essv2527063,essv2561487,essv2569079,essv2528014,essv2562265,essv2574618,essv2572861,essv2545187,essv2545838,essv2551622,essv2547885 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11919,NA11992,NA12154,NA12287,NA12761,NA12874,NA18489,NA18501,NA18507,NA18522,NA18523,NA18861,NA18907,NA18909,NA19138,NA19143,NA19172,NA19239,NA19257 esv1539391 4 134707596 134707596 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765156 S 2 1 0 "" HuRef esv270126 4 134750184 134750526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536403,essv2522697,essv2577629,essv2521665,essv2550302,essv2535398 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA11931,NA12043,NA12144,NA12234,NA12249 nsv509933 4 134753624 134759624 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622068 S 4 0 1 "" NA10860 esv273019 4 134815833 134816290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580849,essv2579043 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv271427 4 134815846 134816332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510203,essv2500829,essv2511029,essv2503191,essv2496695,essv2495482,essv2511428,essv2511221,essv2504470,essv2499375,essv2505156,essv2508034,essv2502332,essv2512415,essv2499409,essv2508055,essv2501651,essv2512240,essv2508562,essv2508370,essv2502535,essv2503849,essv2493476,essv2505044,essv2500349,essv2498304,essv2500454,essv2503345,essv2497307,essv2494595,essv2497225,essv2497821,essv2499988,essv2508273,essv2499901,essv2504534,essv2511326,essv2494489,essv2500132,essv2507700,essv2512654,essv2508477,essv2510009,essv2499318,essv2501607,essv2512873,essv2507536,essv2511681,essv2504940,essv2511150,essv2497884,essv2502485,essv2512367,essv2493123,essv2505470,essv2509389,essv2500493,essv2497442,essv2503728,essv2496009,essv2502640,essv2500778,essv2512805,essv2493538,essv2498903,essv2503632,essv2503963,essv2495026,essv2499552,essv2513067 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11919,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12155,NA12717,NA12749,NA12750,NA12761,NA12763,NA12828,NA12891,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18605,NA18608,NA18609,NA18638,NA18940,NA18942,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18973,NA18980,NA19137,NA19138 esv1756494 4 134816194 134816194 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299415 S 2 1 0 "" HuRef dgv5741n71 4 134822700 135064672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880055,nsv880057 M 6533 0 2 "" IS30522,MS23670 nsv880056 4 134822700 135467816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584998 S 6533 0 1 PABPC4L IS37226 nsv880058 4 134873627 134929867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515924 S 6533 0 1 "" SP56313 dgv5742n71 4 134896681 135064672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880060,nsv880059 M 6533 0 4 "" IS33616,IS33839,IS41263,MS17611 nsv822730 4 134903463 134906778 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423354 S 31 1 0 "" NA18999 nsv4518 4 134904657 134939009 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3284 S 9 1 0 "" NA12878 nsv880061 4 134938151 135107525 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595496 S 6533 1 0 "" IS40239 dgv5743n71 4 134948919 135064672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880063,nsv880062,nsv880067 M 6533 0 7 "" IS30432,IS30899,IS34856,IS35083,IS35189,MS16898,MS18847 dgv5744n71 4 134958977 135125711 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880064,nsv880068 M 6533 0 2 "" IS41068,MS10393 dgv5745n71 4 134958977 135385933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880065,nsv880066 M 6533 0 2 PABPC4L IS39011,IS41043 nsv818274 4 135011677 135034486 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417343 S 112 1 0 "" NA18609 nsv289900 4 135013633 135013633 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308478 M 24 "" nsv292643 4 135013897 135013897 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311221 M 24 "" dgv5746n71 4 135112636 135375597 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880069,nsv880070,nsv880072 M 6533 0 3 PABPC4L IS30522,IS31564,MS21397 esv273818 4 135141778 135142111 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581894,essv2582526,essv2582890,essv2584675 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv268502 4 135141786 135142115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557827,essv2546540,essv2521153,essv2568274,essv2545644,essv2525311,essv2550326,essv2553945,essv2544366,essv2552292,essv2547324,essv2559536,essv2576166,essv2520194,essv2561964,essv2537204,essv2528416,essv2546758,essv2535703,essv2566979,essv2545818,essv2536124,essv2548745,essv2547815 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA10851,NA11881,NA11894,NA11995,NA12003,NA12156,NA12234,NA12287,NA12414,NA12489,NA12717,NA12776,NA12814,NA12815,NA12874,NA12878,NA12891,NA12892,NA18608,NA18853,NA19239 nsv880071 4 135141815 135295946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566269 S 6533 0 1 "" IS30635 nsv520680 4 135141815 135415132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673952,nssv692757 M 2026 0 2 PABPC4L nsv880073 4 135167251 135800039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597504 S 6533 0 1 PABPC4L IS41113 nsv880074 4 135195163 135341051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571107 S 6533 0 1 PABPC4L IS32607 nsv880075 4 135204011 135548877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582937 S 6533 0 1 PABPC4L IS36219 dgv5747n71 4 135223885 135385933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880078,nsv880076,nsv880077 M 6533 0 3 PABPC4L IS30432,IS31166,MS18847 nsv461648 4 135240360 135383211 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538014 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PABPC4L HGDP00019 nsv880079 4 135262309 135395786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533057 S 6533 1 0 PABPC4L MS10999 nsv290685 4 135288377 135298365 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309263 M 24 "" nsv507201 4 135329963 135335963 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617646 S 4 1 0 "" CHM esv272520 4 135349693 135349778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581436 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv507202 4 135351754 135357754 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622907 S 4 1 0 "" NA18994 esv2455754 4 135354661 135355490 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311208 S 1 1 0 "" NA18507 nsv4519 4 135375397 135409881 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv415 S 9 1 0 "" NA19240 esv1939226 4 135390701 135391209 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510031 S 1 0 1 "" NA18507 nsv437428 4 135480215 135484058 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467309 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv880080 4 135484058 135630033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567845 S 6533 0 1 "" IS31166 nsv509934 4 135627298 135633298 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623962,nssv618187,nssv621248 M 4 0 3 "" CHM,NA15510,NA18994 esv269552 4 135640112 135644874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502500,essv2496728,essv2494046 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18498,NA18871 nsv436445 4 135648815 135655591 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466148 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv998952 4 135650606 135655987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564151 S 3 0 1 "" HuRef nsv819412 4 135651720 135655126 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419537 S 2 0 1 "" AK1 esv2648777 4 135651817 135655705 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352536 S 1 0 1 "" NA18507 nsv435780 4 135651862 135657666 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466149 S 2 0 1 "" NA15510 nsv820808 4 135652181 135655664 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420444 S 1 0 1 "" NA10851 esv2521504 4 135652227 135656247 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185481 S 1 0 1 "" NA18507 nsv513166 4 135652233 135655948 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626662 S 1 0 1 "" 1 esv2025588 4 135652344 135655328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725029 S 1 0 1 "" NA18507 esv23606 4 135652400 135655171 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20505,esv11601 M 451 10 14 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19190,NA19225 esv4490 4 135652408 135655243 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26931 S 1 0 1 Single Asian sample YH "" YH dgv896n67 4 135652436 135655086 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822733,nsv822732 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv6510 4 135652455 135655162 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28951 S 1 0 1 "" SJK nsv289702 4 135652458 135655151 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308280 M 24 "" nsv525396 4 135658174 135766744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701519 S 2026 0 1 "" dgv5748n71 4 135673846 135742457 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880081,nsv880082 M 6533 0 4 "" IS30432,IS31044,IS36533,IS39464 dgv5749n71 4 135673846 135800039 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880086,nsv880084,nsv880083,nsv880085 M 6533 0 15 "" IS30539,IS30553,IS31054,IS31137,IS31729,IS31758,IS34962,IS35083,IS35189,IS35229,IS39011,IS39081,IS39119,MS15199,MS25617 dgv5750n71 4 135673846 135852316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880087,nsv880088,nsv880089 M 6533 0 7 "" IS31205,IS31302,IS31554,IS31564,IS31617,IS41043,IS41068 nsv880090 4 135701086 135779125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551739,nssv1569141 M 6533 0 2 "" IS31445,MS18978 nsv880091 4 135708218 135800039 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594526,nssv1598525,nssv1591478,nssv1584559,nssv1577766,nssv1577788 M 6533 3 3 "" IS34555,IS34565,IS37065,IS38846,IS39923,IS41189 dgv5751n71 4 135708218 135863033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880092,nsv880094,nsv880093,nsv880095 M 6533 0 11 "" IS31067,IS31145,IS31187,IS31306,IS35107,IS37999,IS38239,IS39759,MS12827,MS13292,MS15312 nsv880096 4 135708218 136033955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532238 S 6533 0 1 "" MS10737 nsv818275 4 135716639 135766744 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417861 S 112 1 0 "" NA18852 esv1409909 4 135730505 135731215 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734913 S 2 0 1 "" HuRef nsv880097 4 135742457 135905093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598397 S 6533 0 1 "" IS41263 esv268648 4 135765724 135766026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506765,essv2505546,essv2511756,essv2506300,essv2512312,essv2493054,essv2495966,essv2506620,essv2499631,essv2511514,essv2504394 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11918,NA12154,NA18499,NA18523,NA18949,NA18951,NA18961,NA19108,NA19225 esv1603463 4 135785800 135785886 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773658 S 2 0 1 "" HuRef esv2413631 4 135809289 135809696 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512284 S 1 0 1 "" NA18507 esv1264623 4 135809512 135809590 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263103 S 2 0 1 "" HuRef nsv290959 4 135809955 135810720 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309537 M 24 "" esv268221 4 135842697 135842782 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516049 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv2422408 4 135858960 136165433 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161242 S 181 0 1 "" ND03627 nsv4522 4 135870129 135904128 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3285 S 9 1 0 "" NA12878 nsv461652 4 135994688 136298443 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538015 S 1557 0 1 "" NINDS_147 nsv880098 4 136013401 136168675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591673 S 6533 0 1 "" IS39011 nsv436423 4 136037048 136059319 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466150 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28233 4 136037694 136057444 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11534 S 451 0 1 "" NA18505 nsv524430 4 136047340 136052187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700357 S 2026 0 1 "" esv270758 4 136048243 136048539 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509000 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18522 esv1108801 4 136097048 136097048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889748 S 2 1 0 "" HuRef esv1447797 4 136097078 136097078 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959009 S 2 1 0 "" HuRef nsv819918 4 136098742 136105996 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419815 S 2 1 0 "" AK1 esv26707 4 136104572 136120198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18771,esv19890 M 451 4 0 "" NA19108,NA19114,NA19225,NA19257 esv2100012 4 136146788 136147505 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661206 S 1 0 1 "" NA18507 dgv172n6 4 136146987 136147322 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290682,nsv290784 M 24 "" nsv293348 4 136148424 136148551 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311926 M 24 "" nsv293093 4 136148510 136148620 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311671 M 24 "" esv1775643 4 136159327 136159377 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066528 S 2 0 1 "" HuRef nsv880099 4 136193772 136253437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569074 S 6533 0 1 "" IS31419 nsv880100 4 136243971 136292605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580410 S 6533 1 0 "" IS35297 dgv5752n71 4 136262312 136419252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880103,nsv880101,nsv880102 M 6533 0 4 "" IS30522,IS38235,IS38993,MS15199 esv275009 4 136281652 136288857 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585751,essv2585760 M 1250 1 1 "" esv275150 4 136294351 136301818 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585884 S 1250 0 1 "" dgv5753n71 4 136298443 136521720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880111,nsv880110,nsv880104 M 6533 0 3 "" IS31554,IS33491,MS22104 dgv5754n71 4 136304972 136469582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880109,nsv880105 M 6533 0 4 "" IS31145,MS10699,MS11467,MS25751 nsv880106 4 136314125 136387127 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535848,nssv1583775 M 6533 1 1 "" IS36656,MS12509 dgv5755n71 4 136314125 136419252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880107,nsv880108 M 6533 0 23 "" IS30899,IS31041,IS31118,IS31218,IS31259,IS31581,IS31634,IS32607,IS35145,IS36170,IS37999,IS38183,IS39100,IS39923,MS10228,MS12266,MS12827,MS14495,MS17642,MS18847,MS18978,MS19634,SP54030 esv268537 4 136427980 136428264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512517,essv2510577,essv2494724,essv2509085,essv2505694,essv2498697,essv2502136 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18519,NA18522,NA18861,NA19138,NA19257 nsv522536 4 136448847 136539097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705910 S 2026 0 1 "" esv270462 4 136523817 136523918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495725,essv2504668,essv2499844 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18916,NA19099,NA19225 esv1526726 4 136547836 136547836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791941 S 2 1 0 "" HuRef esv1535616 4 136557700 136557700 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255719 S 2 1 0 "" HuRef nsv880112 4 136569923 136686300 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572921 S 6533 0 1 "" IS33196 nsv470079 4 136594378 136674667 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546375 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00680 nsv880113 4 136663795 136730586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508338 S 6533 0 1 "" SP54579 esv1040881 4 136726988 136726988 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138521 S 2 1 0 "" HuRef esv26132 4 136727745 136731110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17919 S 451 0 1 "" NA18517 nsv520459 4 136730586 136730849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674416,nssv676429,nssv687891,nssv671649,nssv687618 M 2026 0 5 "" nsv822734 4 136734539 136746731 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425710 S 31 1 0 "" AK4 esv274165 4 136738807 136738892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581475 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv5756n71 4 136759345 136974586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880115,nsv880114 M 6533 0 2 "" MS18620,MS22104 esv2447268 4 136777300 136777529 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310160 S 1 0 1 "" NA18507 dgv5757n71 4 136785359 137153690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880118,nsv880116 M 6533 0 2 "" IS41224,MS15199 nsv470080 4 136805959 136998389 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546377 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863 nsv880117 4 136819237 136887083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515398 S 6533 0 1 "" SP56185 nsv822735 4 136823294 136824223 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425711 S 31 1 0 "" AK4 nsv461653 4 136873044 136929280 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538016 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00863 esv28397 4 136899412 136901273 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15088 S 451 0 1 "" NA19257 dgv5758n71 4 136910835 136974586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880119,nsv880121 M 6533 0 2 "" IS30432,SP57314 nsv880120 4 136917150 136957180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545132 S 6533 0 1 "" MS16697 nsv830076 4 136926277 137068994 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443976 S 95 1 0 "" nsv522276 4 136946753 136949180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695057 S 2026 0 1 "" esv271698 4 136947005 136947347 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2568164,essv2552593,essv2532361,essv2569588,essv2578804,essv2569637,essv2563063,essv2523671,essv2541113,essv2538310,essv2542931,essv2540363,essv2524352,essv2564855,essv2534734,essv2561166,essv2539890,essv2549558,essv2519790,essv2560051,essv2566228,essv2531088,essv2567463,essv2541734,essv2570144,essv2553378,essv2559319,essv2543541,essv2527834,essv2533976,essv2573014,essv2555474,essv2533686,essv2566371,essv2573987,essv2522334,essv2531672,essv2573478,essv2543244,essv2572051,essv2525734,essv2526922,essv2524271,essv2568463,essv2545089,essv2560376,essv2554790 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11995,NA18502,NA18505,NA18508,NA18510,NA18520,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18582,NA18592,NA18593,NA18605,NA18638,NA18870,NA18907,NA18916,NA18942,NA18943,NA18944,NA18948,NA18951,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19129,NA19147,NA19172,NA19190 esv1720808 4 136954081 136954081 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200415 S 2 1 0 "" HuRef nsv880122 4 136983866 137133096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546108 S 6533 0 1 "" MS17114 nsv880123 4 136998389 137286288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558743 S 6533 0 1 "" MS23531 nsv880124 4 137225897 137262995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514822,nssv1515173 M 6533 0 2 "" SP56085,SP56132 esv273281 4 137238702 137239037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584620,essv2583684 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv268837 4 137238707 137239042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495275,essv2499487,essv2501695,essv2496858,essv2505171,essv2498615,essv2505771,essv2501904,essv2498261,essv2503962 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11992,NA12044,NA12144,NA18498,NA18853,NA18858,NA18861,NA19239,NA19240 esv272715 4 137256506 137256591 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581056 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv28557 4 137293157 137295362 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17683 S 451 0 1 "" NA12156 esv269076 4 137349349 137349434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514037 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv822736 4 137427314 137428147 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433615,nssv1439519 M 31 0 2 "" NA18526,NA18547 esv1004711 4 137454846 137454846 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579543 S 3 1 0 "" HuRef esv1650740 4 137454847 137454847 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007695 S 2 1 0 "" HuRef nsv289730 4 137454848 137454848 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308308 M 24 "" nsv507203 4 137485405 137491405 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622908,nssv617647 M 4 2 0 "" CHM,NA18994 nsv4523 4 137513224 137548376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv416 S 9 1 0 "" NA19240 nsv880125 4 137521428 137690982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517736 S 6533 0 1 "" SP57367 nsv830077 4 137525320 137692703 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443977 S 95 1 0 "" dgv5759n71 4 137546265 137632727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880126,nsv880127 M 6533 0 2 "" IS30635,IS35498 nsv880128 4 137556891 137664640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546109 S 6533 0 1 "" MS17114 nsv441914 4 137578497 137583646 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv29809 4 137578511 137584301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11026 S 451 0 1 "" NA18511 nsv517102 4 137579367 137584270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674315,nssv672743,nssv696920,nssv657996,nssv664989,nssv693067,nssv681536,nssv686880,nssv676996,nssv666562,nssv653790,nssv673796 M 2026 0 12 "" nsv514250 4 137579504 137582224 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627693 S 1414 0 1 "" nsv526257 4 137648223 137683341 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702529 S 2026 0 1 "" esv274893 4 137739241 137745305 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585288,essv2585508 M 1250 1 1 "" nsv524924 4 137752757 137755368 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700937 S 2026 1 0 "" dgv5760n71 4 137755368 137853697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880132,nsv880129,nsv880131 M 6533 0 18 "" SP50839,SP51049,SP51311,SP51432,SP52364,SP52588,SP52868,SP53083,SP53803,SP54047,SP54166,SP54650,SP55381,SP55424,SP55856,SP57379,SP80961,SP81047 nsv880130 4 137755368 137881875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525663 S 6533 0 1 "" SP56758 nsv291383 4 137761068 137761137 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309961 M 24 "" nsv461656 4 137793721 137837521 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538017 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01312 nsv4524 4 137851654 137882988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4782 S 9 1 0 "" NA19129 nsv880133 4 137882054 138054417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581372 S 6533 0 1 "" IS35572 nsv290118 4 137897078 137899801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308696 M 24 "" esv1009916 4 137899351 137899951 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587232 S 3 1 0 "" HuRef nsv520058 4 137914909 137918325 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662719,nssv678762,nssv660340 M 2026 0 3 "" nsv880134 4 137924191 137977142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578743 S 6533 0 1 "" IS34896 nsv880135 4 137939936 138024354 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555834 S 6533 1 0 "" MS21637 nsv461657 4 137980936 138033753 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538018 S 1557 0 1 "" 1780862227_A esv274416 4 138025930 138026026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584331,essv2584790,essv2583753 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271181 4 138025937 138026076 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511050,essv2503185,essv2506801,essv2511465,essv2508006,essv2502344,essv2512470,essv2499438,essv2502856,essv2495836,essv2503387,essv2503818,essv2493408,essv2493366,essv2505018,essv2510729,essv2494146,essv2503044,essv2509702,essv2496337,essv2493708,essv2494863,essv2506095,essv2498364,essv2500381,essv2503358,essv2497322,essv2512981,essv2497217,essv2497786,essv2508283,essv2499873,essv2506406,essv2511335,essv2500636,essv2494395,essv2500101,essv2507654,essv2512697,essv2508095,essv2508620,essv2499225,essv2512934,essv2500915,essv2498531,essv2513335,essv2509219,essv2507396,essv2503158,essv2500527,essv2503705,essv2495166,essv2500717,essv2501285,essv2504720,essv2506498,essv2512125,essv2501984,essv2498138,essv2503678,essv2495772,essv2503944,essv2511538 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA11831,NA11881,NA11918,NA11920,NA12003,NA12004,NA12043,NA12044,NA12156,NA12489,NA12716,NA12761,NA12763,NA12776,NA12828,NA18501,NA18502,NA18507,NA18508,NA18510,NA18517,NA18520,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18605,NA18609,NA18856,NA18858,NA18907,NA18909,NA18912,NA18943,NA18956,NA18960,NA18964,NA18973,NA19093,NA19099,NA19108,NA19238,NA19239,NA19240 esv1776265 4 138025974 138025974 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273417 S 2 1 0 "" HuRef nsv515788 4 138057861 138060169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664787,nssv670170,nssv657424,nssv661075 M 2026 0 4 "" nsv818276 4 138057861 138065221 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416842 S 112 0 1 "" NA19239 nsv830078 4 138070929 138268098 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443980,nssv1443979,nssv1443978 M 95 0 3 "" nsv880136 4 138106284 138194430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594321 S 6533 0 1 "" IS39784 nsv822737 4 138125630 138127225 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439530 S 31 0 1 "" NA18547 esv27248 4 138133623 138172666 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18968 S 451 2 0 "" NA18909,NA19108 dgv5761n71 4 138134015 138216797 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880140,nsv880138,nsv880137 M 6533 0 8 "" IS31054,IS31074,IS38123,IS41224,MS10727,MS12266,MS12827,MS15199 dgv5762n71 4 138143227 138334700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880139,nsv880143,nsv880142,nsv880144 M 6533 0 4 "" IS31330,IS35181,IS37059,IS37226 nsv437429 4 138157815 138165162 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467310 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv2506886 4 138162941 138164514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231785 S 1 0 1 "" NA18507 nsv880141 4 138173257 138256732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587467 S 6533 0 1 "" IS38056 nsv818277 4 138194430 138203681 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418366 S 112 1 0 "" NA10847 nsv880145 4 138217295 138322763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594180 S 6533 0 1 "" IS39718 esv1003517 4 138218591 138224761 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565465 S 3 0 1 "" HuRef dgv328n21 4 138235646 138283532 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528525,nsv520910 M 2026 0 2 "" nsv880146 4 138256732 138322763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567187,nssv1567306,nssv1551741 M 6533 0 3 "" IS31046,IS31067,MS18978 nsv880147 4 138272134 138443981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598870 S 6533 0 1 "" IS41113 nsv516176 4 138272134 138712811 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698797,nssv679926,nssv677600,nssv690005,nssv700682,nssv688429,nssv659809,nssv674614,nssv659307,nssv667155,nssv659251,nssv681898,nssv685714,nssv654850,nssv691528,nssv698989,nssv675217,nssv685668,nssv673572,nssv667507,nssv676666,nssv666632 M 2026 2 20 PCDH18 nsv508316 4 138293524 138322196 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622500,nssv618752 M 4 0 2 "" NA10860,NA18994 nsv4525 4 138300471 138334434 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2481 S 9 0 1 "" NA18555 esv1656226 4 138305387 138305387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648559 S 2 1 0 "" HuRef nsv289524 4 138305388 138305388 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308102 M 24 "" esv1628458 4 138305519 138305519 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049916 S 2 1 0 "" HuRef esv2532502 4 138307427 138311282 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236591 S 1 0 1 "" NA18507 dgv101n17 4 138310218 138322763 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437432,nsv436966,nsv437430,nsv437433,nsv437431 M 60 0 5 "" NA12752,NA18872,NA19100,NA19103,NA19120 nsv10573 4 138310838 138320463 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12006,nssv12166,nssv13572,nssv11681,nssv12152,nssv11735,nssv13604 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA10863,NA12872,NA18502,NA18517,NA18552 nsv499066 4 138311450 138320086 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585927 S 9 0 1 "" esv22480 4 138311476 138320204 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11762 S 451 0 12 "" NA07037,NA11993,NA11995,NA12004,NA12239,NA12287,NA12489,NA12828,NA18502,NA18517,NA18861,NA19147 dgv897n67 4 138311563 138319773 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822739,nsv822738 M 31 0 6 "" AK6,AK8,NA18542,NA18552,NA18570,NA18968 nsv442921 4 138311645 138312864 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514251 4 138311760 138319152 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627694 S 1414 0 1 "" nsv437939 4 138312344 138317314 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468610,nssv468608,nssv468622,nssv468613,nssv468616,nssv468611,nssv468615,nssv468626,nssv468623,nssv468625,nssv468627,nssv468624,nssv468620,nssv468609,nssv468612,nssv468617,nssv468619,nssv468614,nssv468621 M 269 0 19 Samples from several populations that are part of the HapMap project. "" NA10830,NA10838,NA10863,NA12003,NA12043,NA12154,NA12234,NA12752,NA12760,NA18861,NA18863,NA18871,NA18872,NA19098,NA19100,NA19101,NA19103,NA19116,NA19120 dgv5763n71 4 138341334 138466596 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880149,nsv880148 M 6533 0 2 "" IS33533,SP52694 dgv1677e1 4 138344708 138516582 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv272,essv15125 M 271 0 0 "" NA19129 nsv428451 4 138344708 138516582 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450152 S 62 0 1 "" NA19113 nsv10574 4 138375104 138385881 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13551 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv880150 4 138381588 138400982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591674 S 6533 0 1 "" IS39011 dgv5764n71 4 138381588 138441137 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880151,nsv880153 M 6533 0 2 "" MS11467,MS17611 esv267596 4 138386123 138386541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496196,essv2494797,essv2504691,essv2509577,essv2498841,essv2497605,essv2511961,essv2497991 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18519,NA19099,NA19129,NA19138,NA19147,NA19238,NA19240 esv273320 4 138386175 138386527 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579181 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 dgv5765n71 4 138386631 138400982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880152,nsv880154 M 6533 0 2 "" IS30522,MS15199 dgv102n17 4 138389134 138414226 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436968,nsv436967 M 60 0 2 "" NA10859,NA12801 nsv433222 4 138391345 138403399 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463103 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv512836 4 138396711 138396789 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625473 S 1 1 0 "" 1 esv273132 4 138396757 138398330 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582185,essv2582610,essv2582968 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271823 4 138396758 138398343 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557816,essv2575908,essv2540853,essv2546237,essv2525923,essv2542313,essv2536612,essv2522872,essv2544154,essv2556539,essv2568382,essv2545555,essv2523129,essv2577355,essv2570619,essv2521821,essv2535102,essv2552147,essv2547196,essv2529244,essv2558239,essv2564542,essv2553691,essv2565547,essv2520149,essv2537251,essv2528306,essv2546670,essv2557364,essv2552634,essv2551941,essv2532333,essv2569431,essv2578767,essv2558890,essv2537032,essv2569746,essv2527061,essv2561367,essv2541236,essv2538311,essv2542698,essv2540297,essv2565091,essv2549241,essv2560024,essv2522225,essv2566300,essv2531160,essv2532519,essv2567650,essv2563592,essv2553416,essv2535494,essv2572281,essv2566719,essv2551091,essv2543464,essv2556186,essv2527760,essv2539371,essv2534040,essv2578279,essv2573218,essv2533516,essv2566665,essv2530076,essv2557636,essv2556104,essv2534492,essv2522465,essv2531574,essv2573430,essv2572103,essv2575186,essv2538512,essv2526514,essv2560720,essv2524027,essv2574867,essv2572924,essv2560287,essv2548111,essv2549861,essv2535938,essv2537854,essv2548811,essv2533254,essv2554705,essv2547761,essv2524762 M 157 91 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12249,NA12489,NA12717,NA12749,NA12750,NA12751,NA12763,NA12812,NA12815,NA12878,NA12891,NA12892,NA18499,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18520,NA18522,NA18523,NA18545,NA18547,NA18550,NA18552,NA18558,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18582,NA18603,NA18605,NA18608,NA18609,NA18853,NA18858,NA18870,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18944,NA18948,NA18949,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18973,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19190,NA19210,NA19225 nsv10575 4 138399288 138414244 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11711,nssv14213,nssv12045,nssv12729,nssv12036,nssv29227,nssv12723,nssv13843,nssv12052,nssv13581,nssv13602,nssv12380,nssv12196,nssv12931,nssv12386,nssv13538,nssv13677,nssv11795,nssv12598,nssv12634,nssv12708,nssv11539,nssv12187,nssv14670,nssv12959,nssv12182,nssv12167,nssv12505,nssv12564,nssv13634 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv821608 4 138399333 138411570 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420445 S 1 0 1 "" NA10851 nsv819739 4 138399422 138414390 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418650 S 2 1 0 "" AK1 esv23090 4 138399432 138411300 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19418 S 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv898n67 4 138399437 138409979 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822740,nsv822743,nsv822741 M 31 0 5 "" AK20,NA18570,NA18968,NA18969,NA18997 nsv461658 4 138400194 138406802 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538019 S 1557 0 1 "" 1780862587_A nsv818279 4 138400194 138406802 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416233,nssv1418063,nssv1416055,nssv1416056,nssv1418062,nssv1416232 M 112 0 6 "" NA10851,NA10859,NA11882,NA12056,NA12801,NA12812 nsv441915 4 138401883 138411420 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514252 4 138402640 138409760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627695 S 1414 0 1 "" nsv437940 4 138403113 138405463 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468633,nssv468632,nssv468631,nssv468628 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10859,NA11882,NA12801,NA12812 esv274648 4 138408714 138409016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581726,essv2583107 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv293629 4 138431081 138431081 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312207 M 24 "" nsv822744 4 138431140 138433561 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427717 S 31 0 1 "" NA18592 nsv10576 4 138445960 138447992 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12961 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv7251 4 138463268 138463335 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29692 S 1 1 0 "" SJK esv1602295 4 138463334 138463334 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888576 S 2 1 0 "" HuRef nsv4526 4 138490391 138523679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2482 S 9 1 0 "" NA18555 esv2543003 4 138518169 138519112 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215600 S 1 1 0 "" NA18507 esv267846 4 138518422 138518751 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557850,essv2576003,essv2540828,essv2526218,essv2523066,essv2543934,essv2545337,essv2531691,essv2521843,essv2550570,essv2550258,essv2535449,essv2552018,essv2547375,essv2558642,essv2564401,essv2559478,essv2565286,essv2528532,essv2539963,essv2520849,essv2557489,essv2556851,essv2552429,essv2551777,essv2532367,essv2562604,essv2569516,essv2550252,essv2536878,essv2539188,essv2544640,essv2523634,essv2538206,essv2542966,essv2540286,essv2524750,essv2564935,essv2534571,essv2549146,essv2560116,essv2522087,essv2566310,essv2530945,essv2567885,essv2567536,essv2541635,essv2553301,essv2535536,essv2572414,essv2559106,essv2566697,essv2542084,essv2551074,essv2569151,essv2543599,essv2556226,essv2528062,essv2562378,essv2539268,essv2533827,essv2555443,essv2527543,essv2555993,essv2522370,essv2573454,essv2576923,essv2571920,essv2525689,essv2529484,essv2575409,essv2538851,essv2526728,essv2560710,essv2560846,essv2574970,essv2568778,essv2545237,essv2548072,essv2549628,essv2571220,essv2545844,essv2574439,essv2551330,essv2536066,essv2538102,essv2549017,essv2533271 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA10851,NA11830,NA11831,NA11918,NA11931,NA11992,NA12003,NA12006,NA12144,NA12155,NA12234,NA12249,NA12489,NA12717,NA12750,NA12751,NA12776,NA12812,NA12891,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18526,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18570,NA18571,NA18572,NA18573,NA18577,NA18582,NA18592,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18943,NA18952,NA18956,NA18960,NA18964,NA18970,NA18973,NA18980,NA19093,NA19099,NA19108,NA19114,NA19116,NA19137,NA19138,NA19147,NA19172,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv274191 4 138518431 138518729 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580271 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv293760 4 138518456 138518456 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312338 M 24 "" esv270727 4 138537042 138537221 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509034,essv2501364,essv2506525,essv2510833 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19093,NA19108,NA19116 esv24452 4 138543591 138552842 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11262 S 451 0 1 "" NA18511 nsv441916 4 138543995 138549443 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514253 4 138544016 138549072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627696 S 1414 0 1 "" esv271357 4 138632905 138633668 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508058,essv2503609,essv2511525 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA12045 nsv830079 4 138707267 138877962 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443981 S 95 1 0 "" dgv1678e1 4 138759698 138932547 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24285,esv358 M 271 0 0 "" NA10856 nsv880155 4 138810693 138907526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583675 S 6533 0 1 "" IS36581 esv1194363 4 138968379 138968790 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937955 S 2 0 1 "" HuRef esv2318717 4 139028060 139028495 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628944 S 1 0 1 "" NA18507 esv1008509 4 139034078 139035877 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565380 S 3 1 0 "" HuRef esv1419924 4 139036146 139036256 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752851 S 2 0 1 "" HuRef esv2576638 4 139100108 139101547 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291180 S 1 0 1 "" NA18507 nsv830080 4 139172268 139364176 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443982 S 95 1 0 LOC641364,LOC641365,SLC7A11 nsv513167 4 139185108 139187776 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626663 S 1 0 1 LOC641365 1 esv2641901 4 139185188 139186835 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379896 S 1 0 1 LOC641365 NA18507 dgv127e180 4 139185478 139186884 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1000158,esv1004097 M 3 0 1 LOC641365 HuRef esv1961455 4 139185481 139186838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526303 S 1 0 1 LOC641365 NA18507 nsv820431 4 139185584 139186671 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420446 S 1 0 1 LOC641365 NA10851 nsv822745 4 139185584 139186671 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427841,nssv1437403,nssv1432018,nssv1438111,nssv1422562,nssv1423356,nssv1427447,nssv1430542,nssv1424161,nssv1428232,nssv1434379,nssv1439541,nssv1431276,nssv1440312 M 31 0 14 LOC641365 AK10,AK16,AK18,AK20,AK8,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18949,NA18951,NA18999 dgv173n6 4 139185662 139186668 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292905,nsv293591 M 24 LOC641365 esv27865 4 139185878 139186660 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15550 S 451 22 1 LOC641365 NA06985,NA07045,NA11894,NA11993,NA12004,NA12156,NA12287,NA12489,NA12749,NA12776,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19225,NA19257 nsv526874 4 139196623 139213854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703232 S 2026 0 1 LOC641365 esv268187 4 139230336 139230565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498351,essv2497356,essv2512755,essv2508489,essv2508600,essv2495210 M 157 6 0 Samples from several populations that are part of the HapMap project. LOC641364,LOC641365 NA18526,NA18545,NA18577,NA18582,NA18592,NA18964 nsv290617 4 139275793 139275852 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309195 M 24 LOC641364 nsv293626 4 139275821 139275880 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312204 M 24 LOC641364 nsv880156 4 139299416 140055803 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563904 S 6533 1 0 LOC641364,SLC7A11 IS30127 nsv822746 4 139310002 139310649 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436570 S 31 0 1 LOC641364,SLC7A11 NA18542 nsv508317 4 139320213 139408030 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618753 S 4 0 1 SLC7A11 NA10860 nsv880157 4 139329202 139375254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500400 S 6533 0 1 SLC7A11 SP50649 nsv470081 4 139344491 139414602 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546378 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC7A11 HGDP00875 nsv526177 4 139348705 139375254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702438 S 2026 0 1 SLC7A11 dgv1679e1 4 139363978 139532338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18076,esv424 M 271 0 0 SLC7A11 NA12145 nsv818280 4 139369733 139395145 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417153 S 112 1 0 SLC7A11 NA18542 nsv880158 4 139369733 139425959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584560 S 6533 0 1 SLC7A11 IS37065 nsv470082 4 139375253 139414602 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546379 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC7A11 HGDP00655 nsv830082 4 139384131 139540515 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443983,nssv1443986,nssv1443984 M 95 1 2 "" nsv522497 4 139395145 139398344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705865 S 2026 0 1 "" esv273928 4 139444630 139444963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581745,essv2582622,essv2582802,essv2584412,essv2583680 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv268878 4 139444632 139444963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557829,essv2565818,essv2575810,essv2546355,essv2521243,essv2526077,essv2536617,essv2522931,essv2543818,essv2568280,essv2545271,essv2523276,essv2531805,essv2577252,essv2570445,essv2548273,essv2550537,essv2525426,essv2550506,essv2535043,essv2544534,essv2520328,essv2547517,essv2529158,essv2558655,essv2564348,essv2577665,essv2559446,essv2565278,essv2576212,essv2520238,essv2564227,essv2555174,essv2561775,essv2537714,essv2528199,essv2546787,essv2557334,essv2556947,essv2562685,essv2569551,essv2578776,essv2558921,essv2538914,essv2561707,essv2544852,essv2523506,essv2541401,essv2542722,essv2540620,essv2564841,essv2534745,essv2539759,essv2549313,essv2519802,essv2559934,essv2565924,essv2528894,essv2563640,essv2553322,essv2535514,essv2572431,essv2550995,essv2556171,essv2562503,essv2573167,essv2533605,essv2555699,essv2555864,essv2573372,essv2529604,essv2575678,essv2526665,essv2574725,essv2530435,essv2572662,essv2545254,essv2549760,essv2546110,essv2574419,essv2551391,essv2537876,essv2548684,essv2533414,essv2554480,essv2547932,essv2524769 M 157 87 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12155,NA12156,NA12234,NA12249,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18523,NA18526,NA18537,NA18545,NA18550,NA18552,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18579,NA18603,NA18605,NA18608,NA18609,NA18858,NA18871,NA18909,NA18942,NA18944,NA18945,NA18956,NA18964,NA19093,NA19099,NA19114,NA19138,NA19141,NA19143,NA19172,NA19225,NA19239,NA19240,NA19257 esv1424312 4 139444667 139444667 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163600 S 2 1 0 "" HuRef nsv10577 4 139519510 139523649 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12664 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv5234 4 139566554 139566921 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27675 S 1 0 1 Single Asian sample YH "" YH nsv289861 4 139566717 139566814 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308439 M 24 "" nsv4527 4 139661104 139707306 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2483,nssv4783,nssv417,nssv3287 M 9 0 4 "" NA12878,NA18555,NA19129,NA19240 nsv508318 4 139667125 139708850 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618754,nssv622501,nssv617498 M 4 0 3 "" CHM,NA10860,NA18994 esv2598213 4 139687747 139693472 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165454 S 1 0 1 "" NA18507 nsv436417 4 139687925 139692690 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466152 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv513168 4 139688198 139692872 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626664 S 1 0 1 "" 1 esv992041 4 139688278 139694626 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564849 S 3 0 1 "" HuRef dgv47n47 4 139688311 139692707 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499068,nsv499067 M 9 0 2 "" esv1450229 4 139688328 139692706 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101283 S 2 0 1 "" HuRef nsv292523 4 139698744 139704940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311101 M 24 "" nsv523762 4 139701785 139702408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699583 S 2026 0 1 "" nsv520347 4 139702153 139702408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694376 S 2026 0 1 "" nsv4528 4 139702378 139736958 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3288 S 9 1 0 "" NA12878 nsv520167 4 139747838 139749760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697259 S 2026 0 1 "" nsv509935 4 139797394 139803394 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621249 S 4 0 1 "" NA15510 esv268844 4 139826986 139827219 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498682 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19138 nsv830083 4 139829852 139985085 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443987 S 95 0 1 "" esv2377388 4 139903881 139904314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541620 S 1 0 1 "" NA18507 nsv880159 4 139999018 140076178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582626 S 6533 0 1 "" IS36064 esv2427974 4 140007474 140008065 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327946 S 1 1 0 "" NA18507 nsv512837 4 140007517 140007658 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625474 S 1 1 0 "" 1 nsv880160 4 140013795 140552585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586320 S 6533 1 0 C4orf49,CCRN4L,ELF2,NAA15,NDUFC1 IS37738 nsv461659 4 140084049 140129164 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538020 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00197 nsv523750 4 140112137 140135333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699567 S 2026 0 1 "" esv2544225 4 140166596 140168026 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382724 S 1 0 1 CCRN4L NA18507 esv2040934 4 140167425 140167978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831706 S 1 0 1 CCRN4L NA18507 esv1464767 4 140167477 140167796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929311 S 2 0 1 CCRN4L HuRef esv275286 4 140217865 140217919 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585777,essv2585613 M 1250 1 1 ELF2 nsv291024 4 140291700 140291700 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309602 M 24 "" nsv519918 4 140315734 140319218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697125 S 2026 0 1 "" nsv822747 4 140323453 140323913 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440313 S 31 1 0 "" NA18564 nsv822748 4 140451750 140458063 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424938,nssv1427448 M 31 0 2 NAA15 AK2,AK8 nsv442922 4 140452973 140457810 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NAA15 nsv514254 4 140453024 140457840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627697 S 1414 0 1 NAA15 nsv4529 4 140461314 140493118 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10423 S 9 1 0 NAA15 NA18956 nsv830084 4 140466707 140619336 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443988 S 95 0 1 NAA15,RAB33B nsv830085 4 140534111 140726772 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443989,nssv1443990,nssv1443991 M 95 0 3 RAB33B,SETD7 nsv830086 4 140635355 140811821 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443992 S 95 1 0 MGST2,SETD7 nsv819236 4 140647470 140647902 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418952 S 2 1 0 SETD7 AK1 esv27698 4 140696112 140696737 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12095 S 451 0 1 SETD7 NA07045 nsv880161 4 140715997 140761782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557924 S 6533 0 1 "" MS22993 nsv515669 4 140747126 140750944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664320,nssv689002,nssv695697,nssv668052,nssv684441,nssv665876,nssv664788,nssv675735,nssv663709,nssv682606,nssv689680,nssv667349,nssv675673,nssv679598,nssv685302,nssv687892,nssv655154,nssv677326 M 2026 0 18 "" esv27667 4 140747873 140750408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12867 S 451 0 1 "" NA18907 nsv522063 4 140768163 140768929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694833 S 2026 0 1 "" nsv880162 4 140771849 140831509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557936 S 6533 0 1 MGST2 MS22998 dgv5766n71 4 140793049 140831509 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880164,nsv880163 M 6533 0 3 MGST2 MS13426,MS16968,MS17164 nsv525242 4 140879842 140883071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701332 S 2026 0 1 MAML3,MGST2 nsv290100 4 140922135 140930820 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308678 M 24 MAML3 esv2131682 4 140942055 140942489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995953 S 1 0 1 MAML3 NA18507 esv260048 4 140995178 140995513 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400203,essv2400031,essv2394759,essv2399034,essv2400298,essv2398485,essv2396563,essv2401109,essv2400892,essv2398923,essv2395776,essv2400581,essv2397571,essv2398064,essv2399375,essv2398665,essv2400779,essv2397980,essv2399595,essv2399184,essv2400720,essv2394958,essv2399835 M 144 0 0 Samples from several populations that are part of the HapMap project. MAML3 NA07037,NA07051,NA07357,NA10851,NA11881,NA11894,NA11919,NA11931,NA11993,NA11995,NA12004,NA12043,NA12044,NA12144,NA12287,NA12489,NA12717,NA12751,NA12761,NA12776,NA18542,NA18545,NA18573 nsv291396 4 141026381 141026536 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309974 M 24 MAML3 nsv830087 4 141060392 141149951 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443993,nssv1443994 M 95 2 0 MAML3 esv273356 4 141158290 141158435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580816,essv2579799 M 7 2 0 Samples from several populations that are part of the HapMap project. MAML3 NA19238,NA19240 esv269496 4 141158340 141158550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510985,essv2503226,essv2496659,essv2495288,essv2504477,essv2505130,essv2507949,essv2502323,essv2499454,essv2508086,essv2501661,essv2505500,essv2512243,essv2513154,essv2510368,essv2507708,essv2493443,essv2508856,essv2502821,essv2496729,essv2510571,essv2504209,essv2509784,essv2501183,essv2493598,essv2498379,essv2508775,essv2500403,essv2503339,essv2497334,essv2513012,essv2497198,essv2497788,essv2508254,essv2506360,essv2511376,essv2500664,essv2494510,essv2500165,essv2507619,essv2508121,essv2508486,essv2496131,essv2501632,essv2512930,essv2498447,essv2513326,essv2495664,essv2511660,essv2511122,essv2503544,essv2502481,essv2512307,essv2493057,essv2505409,essv2500500,essv2495942,essv2495208,essv2502635,essv2507017,essv2506680,essv2499078,essv2509602,essv2498716,essv2497618,essv2512117,essv2501934,essv2502097,essv2503613,essv2503964,essv2495042,essv2511500,essv2504402 M 157 73 0 Samples from several populations that are part of the HapMap project. MAML3 NA06986,NA07037,NA07051,NA07346,NA07347,NA11831,NA11881,NA11894,NA11992,NA11993,NA11995,NA12003,NA12004,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12414,NA12751,NA12763,NA12878,NA12892,NA18498,NA18501,NA18505,NA18508,NA18516,NA18517,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18561,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18603,NA18608,NA18609,NA18858,NA18907,NA18916,NA18940,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19238,NA19239,NA19257 esv272206 4 141159652 141159879 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580501,essv2580999,essv2579083,essv2579422 M 7 4 0 Samples from several populations that are part of the HapMap project. MAML3 NA12891,NA19238,NA19239,NA19240 esv272038 4 141159662 141159890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511907,essv2510775,essv2509790,essv2506828,essv2506573,essv2499076,essv2509544,essv2498870,essv2497568,essv2501912 M 157 10 0 Samples from several populations that are part of the HapMap project. MAML3 NA18499,NA18501,NA18508,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19239 nsv292145 4 141210309 141214781 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310723 M 24 MAML3 nsv822749 4 141245265 141246497 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437404 S 31 0 1 MAML3 NA18949 esv2612036 4 141364614 141366385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353334 S 1 0 1 "" NA18507 esv2215530 4 141365106 141365782 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593405 S 1 0 1 "" NA18507 esv2608369 4 141365302 141365593 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328720 S 1 0 1 "" NA18507 esv1182482 4 141502905 141502905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367098 S 2 1 0 LOC100129858,SCOC HuRef nsv880165 4 141552925 141709869 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597656 S 6533 0 1 CLGN,ELMOD2,UCP1 IS40890 nsv830088 4 141577560 141744398 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443995 S 95 1 0 ELMOD2,UCP1 nsv527102 4 141577682 141591935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703482 S 2026 0 1 "" nsv880166 4 141593934 141668725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556735 S 6533 0 1 ELMOD2 MS22146 esv268338 4 141718481 141718663 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494228,essv2505840,essv2513433,essv2495735,essv2503568,essv2512382,essv2500720,essv2512776,essv2505654,essv2504634,essv2506537,essv2499175 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18861,NA18907,NA18916,NA18947,NA18949,NA18973,NA18980,NA19005,NA19099,NA19108,NA19114 nsv830089 4 141744144 141968413 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443997,nssv1443998 M 95 1 1 TBC1D9 esv28104 4 141757011 141757467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11327 S 451 0 1 "" NA12004 nsv822750 4 141782066 141787245 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432791 S 31 1 0 TBC1D9 NA18972 nsv880167 4 141836429 142311574 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505632 S 6533 1 0 RNF150,TBC1D9 SP53734 esv2073610 4 141841482 141841966 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698082 S 1 0 1 TBC1D9 NA18507 esv26507 4 141920388 141921263 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15056 S 451 3 0 "" NA11894,NA18523,NA19225 esv993294 4 141920472 141921207 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586088 S 3 0 1 "" HuRef nsv528137 4 141929596 141954857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704682 S 2026 0 1 "" nsv292978 4 141955299 141955991 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311556 M 24 "" nsv830090 4 141989944 142167214 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1443999 S 95 1 0 RNF150 nsv4530 4 142012787 142045618 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3289 S 9 1 0 RNF150 NA12878 nsv830091 4 142016053 142199996 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444000 S 95 0 1 RNF150 esv275310 4 142016539 142017336 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585859,essv2585469 M 1250 1 1 RNF150 nsv527493 4 142016987 142029553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703941 S 2026 0 1 RNF150 nsv880168 4 142046230 142119820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575441 S 6533 0 1 RNF150 IS33747 esv1188340 4 142140628 142140628 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989631 S 2 1 0 RNF150 HuRef esv2511191 4 142145884 142147252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205523 S 1 0 1 RNF150 NA18507 esv1974835 4 142146190 142146869 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947432 S 1 0 1 RNF150 NA18507 nsv880169 4 142225023 142257931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509455 S 6533 0 1 RNF150 SP54792 nsv880170 4 142266278 142356615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601104 S 6533 0 1 RNF150 IS41971 nsv509936 4 142267019 142273019 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622069 S 4 0 1 RNF150 NA10860 nsv526770 4 142267997 142281396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703122 S 2026 0 1 RNF150 dgv1680e1 4 142285111 142587401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15127,esv205 M 271 0 0 ZNF330 NA19129 nsv525345 4 142348764 142352412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701463 S 2026 0 1 "" nsv880171 4 142396508 142553622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505633 S 6533 1 0 "" SP53734 nsv10578 4 142444240 142446905 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13611 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv436444 4 142447001 142453119 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466153 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2486246 4 142449457 142453055 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323129 S 1 0 1 "" NA18507 nsv10579 4 142449619 142452542 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12217,nssv12991,nssv12410,nssv12197,nssv12066,nssv11825,nssv13632,nssv13568,nssv12075,nssv12738,nssv13641,nssv13664,nssv13873,nssv14700,nssv12694,nssv12416,nssv11470 M 31 0 17 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18853,NA18860,NA19007,NA19221,NA19240 dgv899n67 4 142450005 142452400 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822755,nsv822757,nsv822752,nsv822751,nsv822756,nsv822754 M 31 0 14 "" AK14,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18592,NA18947,NA18968,NA18969,NA18972,NA18997 esv28091 4 142450027 142452355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17530 S 451 0 23 "" NA07037,NA07045,NA11931,NA11995,NA12006,NA12239,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19129,NA19147,NA19225,NA19240,NA19257 esv2326052 4 142450052 142452696 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626683 S 1 0 1 "" NA18507 nsv513169 4 142450153 142452509 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626666 S 1 0 1 "" 1 nsv292686 4 142450229 142452512 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311264 M 24 "" nsv819883 4 142450389 142453257 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419485 S 2 0 1 "" AK1 nsv291212 4 142483661 142483661 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309790 M 24 "" nsv290630 4 142483713 142483713 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309208 M 24 "" nsv880172 4 142574985 142784539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564858 S 6533 0 1 IL15 IS30311 nsv880173 4 142574985 142885556 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505634 S 6533 1 0 IL15 SP53734 nsv830094 4 142631188 142787238 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444001 S 95 0 1 IL15 nsv520477 4 142659721 142663558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697443 S 2026 0 1 "" esv259562 4 142662388 142662738 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394198,essv2393928,essv2393796,essv2393774,essv2394082,essv2394259 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv260049 4 142662405 142662762 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400215,essv2398911,essv2396231,essv2396664,essv2398281,essv2397369,essv2401059,essv2396970,essv2395594,essv2399323,essv2396622,essv2400956,essv2395101,essv2398540,essv2395520,essv2397415,essv2397177,essv2399841,essv2400436,essv2396841,essv2399488,essv2400100,essv2394667,essv2395444,essv2398154,essv2400811,essv2395119,essv2398360,essv2399792,essv2396409,essv2398045,essv2398703,essv2397219,essv2395940,essv2397078,essv2400493 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11995,NA12006,NA12414,NA12763,NA12878,NA12891,NA12892,NA18501,NA18522,NA18526,NA18547,NA18550,NA18562,NA18563,NA18566,NA18572,NA18573,NA18592,NA18638,NA18858,NA18861,NA18870,NA18948,NA18949,NA18952,NA18953,NA19093,NA19129,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240 nsv526989 4 142663558 142720503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703362 S 2026 0 1 "" esv267429 4 142901049 142901164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512272,essv2498314,essv2513019,essv2497822,essv2500037,essv2507470,essv2511113,essv2512322,essv2503989 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA12155,NA18526,NA18547,NA18555,NA18558,NA18638,NA18944,NA18949 nsv830095 4 142914528 143104438 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444002,nssv1444003,nssv1444004,nssv1444005 M 95 4 0 "" nsv517947 4 142989918 143014943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695359 S 2026 1 0 "" esv2023419 4 143072697 143073160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702646 S 1 0 1 "" NA18507 nsv830096 4 143086549 143243211 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444006 S 95 1 0 INPP4B esv2489574 4 143094299 143095713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351811 S 1 0 1 "" NA18507 esv2125953 4 143094781 143095248 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519105 S 1 0 1 "" NA18507 nsv830097 4 143169155 143355822 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444008 S 95 1 0 INPP4B esv1010249 4 143248995 143249051 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571727 S 3 0 1 INPP4B HuRef nsv830098 4 143269593 143453834 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444009 S 95 1 0 INPP4B esv989976 4 143354438 143357371 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564645 S 3 0 1 INPP4B HuRef nsv830099 4 143357707 143504505 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444010 S 95 1 0 INPP4B esv2256713 4 143386328 143386666 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855502 S 1 0 1 INPP4B NA18507 esv1561602 4 143386459 143386613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037752 S 2 0 1 INPP4B HuRef esv259589 4 143425919 143426192 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394167,essv2393931 M 6 0 0 Samples from several populations that are part of the HapMap project. INPP4B NA12878,NA12891 esv259840 4 143425936 143426212 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397321,essv2401041,essv2394712,essv2395647,essv2397706,essv2399133,essv2394669,essv2395316,essv2396389,essv2397246 M 144 0 0 Samples from several populations that are part of the HapMap project. INPP4B NA12878,NA12891,NA18498,NA18501,NA18502,NA18609,NA18870,NA18916,NA19138,NA19225 nsv292962 4 143426025 143426025 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311540 M 24 INPP4B nsv830100 4 143436401 143612755 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444011 S 95 1 0 INPP4B esv269532 4 143477719 143478043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510293,essv2513190,essv2502573,essv2508868,essv2502841,essv2501087,essv2494854,essv2497296,essv2497244,essv2512665,essv2508194,essv2512857,essv2505306,essv2498591,essv2503153,essv2505406,essv2497406,essv2495161,essv2505683,essv2509539,essv2493557,essv2497625,essv2512170,essv2498199,essv2499563 M 157 25 0 Samples from several populations that are part of the HapMap project. INPP4B NA07357,NA10851,NA12249,NA12750,NA12878,NA12892,NA18516,NA18519,NA18545,NA18552,NA18577,NA18579,NA18609,NA18853,NA18858,NA18943,NA18952,NA18959,NA18964,NA19005,NA19129,NA19137,NA19147,NA19238,NA19240 esv274584 4 143477733 143478057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581979,essv2583038,essv2584287,essv2583339 M 7 4 0 Samples from several populations that are part of the HapMap project. INPP4B NA12878,NA12892,NA19238,NA19240 nsv292161 4 143508920 143510190 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310739 M 24 INPP4B nsv461660 4 143656669 143757629 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538021 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations INPP4B HGDP00597 esv2279055 4 143721945 143722382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927282 S 1 0 1 INPP4B NA18507 esv4656 4 143722029 143722290 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27097 S 1 0 1 Single Asian sample YH INPP4B YH nsv292163 4 143722070 143722165 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310741 M 24 INPP4B esv997092 4 143722076 143722171 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567157 S 3 0 1 INPP4B HuRef esv1151116 4 143722159 143722255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122164 S 2 0 1 INPP4B HuRef nsv292381 4 143722183 143722274 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310959 M 24 INPP4B nsv830101 4 143738260 143903842 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444012 S 95 0 1 INPP4B nsv441917 4 143835324 143839399 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 INPP4B esv21478 4 143835460 143840770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19572 S 451 0 1 INPP4B NA19099 nsv880174 4 143858948 144067474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600664 S 6533 0 1 INPP4B IS41909 nsv292010 4 143976892 143977322 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310588 M 24 INPP4B nsv509937 4 143986906 143992906 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622070,nssv623963 M 4 0 2 INPP4B NA10860,NA18994 nsv880175 4 143999063 144111702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566465 S 6533 0 1 "" IS30742 nsv437434 4 144008014 144020797 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467315 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv2422175 4 144013522 144020423 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5115212,essv5003887,essv5072227,essv5145425,essv5117696,essv5103248,essv5051746,essv5112434,essv5118202,essv5126025,essv5095940,essv5050468,essv5059864,essv5038169,essv5047783,essv5058541 M 1184 0 16 "" NA18855,NA18858,NA18860,NA18871,NA18934,NA18935,NA19140,NA19200,NA19209,NA19211,NA20319,NA20342,NA20343,NA21479,NA21480,NA21685 nsv10580 4 144013608 144075809 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13671 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv27736 4 144013841 144020391 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18685 S 451 0 1 "" NA18858 nsv516526 4 144015937 144019811 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691657,nssv691391,nssv668882,nssv685697,nssv659639 M 2026 0 5 "" esv1704596 4 144030240 144030299 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352715 S 2 0 1 "" HuRef nsv830102 4 144039718 144173061 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444013 S 95 0 1 "" esv28952 4 144077365 144078026 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15395 S 451 0 3 "" NA18508,NA18511,NA19225 nsv880176 4 144148685 144247179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516837 S 6533 1 0 "" SP56959 esv5517 4 144194983 144195092 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27958 S 1 1 0 "" SJK esv2450073 4 144260809 144262663 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388383 S 1 0 1 "" NA18507 esv2561273 4 144261799 144262294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296702 S 1 0 1 "" NA18507 esv270292 4 144346526 144346611 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515325 S 157 1 0 Samples from several populations that are part of the HapMap project. USP38 NA12249 nsv4531 4 144394023 144412380 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8009 S 9 0 1 "" NA12156 nsv880177 4 144394223 144433532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503686 S 6533 0 1 "" SP52094 nsv437941 4 144505133 144515402 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468635,nssv468634 M 269 0 2 Samples from several populations that are part of the HapMap project. GAB1 NA19201,NA19202 dgv1681e1 4 144567743 144734751 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv803,essv3024,essv20215,essv8418,essv1249,essv15550,essv5598,essv11858,essv3897,essv15094,essv13579,essv19695,essv12622,essv19237,essv24510,essv4763,essv22511,essv23029,essv24982,essv18125,essv17472,essv8097,essv23129,essv23248,essv23975,essv15461 M 271 0 0 FREM3,GAB1,GUSBP5,SMARCA5 NA07029,NA10838,NA10839,NA11882,NA11993,NA12144,NA12264,NA12716,NA12762,NA12802,NA12812,NA12891,NA18500,NA18505,NA18516,NA18529,NA18620,NA18973,NA18981,NA18994,NA18995,NA19129,NA19137,NA19160,NA19206,NA19221 dgv1682e1 4 144567743 144877611 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2453,essv21427 M 271 0 0 FREM3,GAB1,GUSBP5,SMARCA5 NA12717,NA18999 dgv1683e1 4 144567743 145091999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15002,essv9897,essv12680 M 271 0 0 FREM3,GAB1,GUSBP5,GYPE,SMARCA5 NA18500,NA18870,NA19145 dgv1684e1 4 144567743 145351042 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv702,essv6877 M 271 0 0 FREM3,GAB1,GUSBP5,GYPA,GYPB,GYPE,SMARCA5 NA18605 esv2576302 4 144610407 144611713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304803 S 1 0 1 GAB1 NA18507 nsv830103 4 144612848 144772495 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444015,nssv1444014 M 95 0 2 FREM3,GAB1,GUSBP5,SMARCA5 esv1150146 4 144640304 144640304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220241 S 2 1 0 "" HuRef nsv4533 4 144790110 144825322 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3290 S 9 1 0 FREM3 NA12878 esv4609 4 144792677 144793135 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27050 S 1 0 1 Single Asian sample YH FREM3 YH nsv293188 4 144792752 144793078 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311766 M 24 FREM3 esv9197 4 144792753 144793064 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31638 S 1 0 1 FREM3 SJK nsv428452 4 144818309 145351042 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450166,nssv450164,nssv450169,nssv450174,nssv450173,nssv450162,nssv450159,nssv450175,nssv450161,nssv450160 M 62 0 10 FREM3,GYPA,GYPB,GYPE HGDP00449,HGDP00460,HGDP00467,HGDP00474,HGDP00476,HGDP00478,HGDP01087,HGDP01088,NA19113,NA19181 dgv1685e1 4 144853572 145091999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16745,essv13593 M 271 0 0 GYPE NA18872,NA19127 dgv1686e1 4 144853572 145351042 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10750,essv14590,essv18378,essv13199,essv5726,essv13076,essv17294,essv15865,essv16317,essv4471,essv11854,essv11818,essv11936,essv12510 M 271 0 0 GYPA,GYPB,GYPE NA12249,NA18502,NA18521,NA18523,NA18552,NA18593,NA18852,NA18856,NA19093,NA19102,NA19193,NA19207,NA19221,NA19223 nsv10581 4 144872676 144879490 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12082,nssv12226 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18942 esv27110 4 144873835 144901441 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10426 S 451 6 0 "" NA11995,NA12749,NA18508,NA18909,NA18916,NA19114 dgv4n29 4 144877608 145076420 CNV Loss Locke et al 2006 16826518 BAC_aCGH nsv469812,nsv469811 M 265 0 14 GYPE nsv822758 4 144877864 144878832 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435039,nssv1424162 M 31 2 0 "" NA18582,NA18942 esv1567203 4 144880317 144880317 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311157 S 2 1 0 "" HuRef nsv437436 4 144924955 144954610 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467317 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 esv21692 4 144932472 144973708 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12670 S 451 2 0 "" NA18502,NA19225 nsv441918 4 144938147 144965448 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv436452 4 144940355 145180235 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466154 S 2 0 1 Samples from several populations that are part of the HapMap project. GYPB,GYPE NA18505 esv2752026 4 144940845 145343059 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984134,essv6984133,essv6987501,essv6984135,essv6987502 M 771 1 0 GYPA,GYPB,GYPE BEC_783 dgv189e55 4 144941110 145251291 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752027,esv2752028,esv2752029 M 771 3 0 GYPA,GYPB,GYPE BEC_360,BEC_558,BEC_629 nsv10582 4 144949128 144969068 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12628,nssv11741 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA12872,NA19144 nsv880178 4 144959649 145062088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508257 S 6533 1 0 GYPE SP54636 nsv528303 4 144959649 145128322 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704879 S 2026 1 0 GYPE dgv667n27 4 144959649 145143848 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461663,nsv461662 M 1557 2 0 GYPB,GYPE 1780862089_A,1782681093_A dgv5767n71 4 144964249 145275028 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880180,nsv880179,nsv880183 M 6533 7 0 GYPA,GYPB,GYPE IS33776,IS34964,IS37069,IS37987,IS38449,IS39860,IS41308 nsv517006 4 144964249 145275937 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674987,nssv656788,nssv675644,nssv667755,nssv671944,nssv660598,nssv659437,nssv703052,nssv671240,nssv683695,nssv680519,nssv666352,nssv689517,nssv681582,nssv667980,nssv662152,nssv654409,nssv665617,nssv676965,nssv664042,nssv669869,nssv686881,nssv678869,nssv675234,nssv668561,nssv656496,nssv670171,nssv689314,nssv658131,nssv680777,nssv663491,nssv686844,nssv661076,nssv658626,nssv687180,nssv656365,nssv675283,nssv669388,nssv683786,nssv689271,nssv671857,nssv673972,nssv695482,nssv672323,nssv665048,nssv688800,nssv656364,nssv678199,nssv678648,nssv680094,nssv698386,nssv671448,nssv658334,nssv692384,nssv676087,nssv687033,nssv685881,nssv660656,nssv664261,nssv659022,nssv675150,nssv671301,nssv691658,nssv679476,nssv653791,nssv665972,nssv685822,nssv696468,nssv665047,nssv651786,nssv666948,nssv653036,nssv700185,nssv685303,nssv674316,nssv679859,nssv670350,nssv660544,nssv653603,nssv684055,nssv673877,nssv673489,nssv671241,nssv681382,nssv667156,nssv657369,nssv681339,nssv693068,nssv661638,nssv679442,nssv676940,nssv652204,nssv654503 M 2026 6 87 GYPA,GYPB,GYPE nsv436078 4 144966360 145192738 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466155 S 2 1 0 GYPB,GYPE NA15510 nsv461664 4 144973597 145218570 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538025 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GYPB,GYPE HGDP00341 nsv461665 4 144973597 145218570 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538026 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GYPB,GYPE HGDP01172 nsv10584 4 144977021 145265103 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12256,nssv12594,nssv11855,nssv12989,nssv12142,nssv11801,nssv12783,nssv12470,nssv12688,nssv12476,nssv14730,nssv13707,nssv13694,nssv14273,nssv13021,nssv12286,nssv12658,nssv12212,nssv12135,nssv12724,nssv12565,nssv11569,nssv12789,nssv12535,nssv14243,nssv12227 M 31 2 21 Samples from several populations that are part of the HapMap project. GYPA,GYPB,GYPE NA07029,NA07048,NA10839,NA10847,NA12740,NA12872,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv880181 4 144977654 145102194 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555694,nssv1597615 M 6533 1 1 GYPE IS41013,MS21517 nsv880182 4 144977654 145168798 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537586 S 6533 1 0 GYPB,GYPE MS13253 nsv880185 4 144990530 145113710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588577 S 6533 0 1 GYPE IS38219 dgv5768n71 4 144990530 145127126 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880186,nsv880184 M 6533 2 0 GYPE IS39916,IS41966 dgv5769n71 4 144990530 145179067 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880190,nsv880188,nsv880187,nsv880189 M 6533 5 0 GYPB,GYPE IS31205,IS38235,IS40012,IS40795,SP55174 esv2099843 4 144992990 144993397 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4718694 S 1 0 1 "" NA18507 nsv435790 4 144995436 145117169 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466156 S 2 0 1 GYPE NA15510 dgv1687e1 4 145008093 145140282 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8400,essv8532,essv9297 M 271 0 0 GYPB,GYPE NA18523,NA18852,NA19093 esv2752030 4 145008093 145178845 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988315,essv6980780,essv6985407 M 771 1 0 GYPB,GYPE BEC_149 dgv1688e1 4 145008093 145251291 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12951,essv9515,essv11604 M 271 0 0 GYPA,GYPB,GYPE NA18521,NA19102,NA19207 nsv880191 4 145012409 145259965 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527053,nssv1576204,nssv1543040,nssv1597134,nssv1519738,nssv1564074 M 6533 5 1 GYPA,GYPB,GYPE IS30152,IS33948,IS40739,MS16032,SP50522,SP58097 nsv436411 4 145022142 145262875 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466157 S 2 0 1 Samples from several populations that are part of the HapMap project. GYPA,GYPB,GYPE NA18505 dgv5770n71 4 145024883 145273588 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880192,nsv880200,nsv880194,nsv880197 M 6533 5 0 GYPA,GYPB,GYPE IS30224,IS30530,IS38292,IS38668,SP55346 dgv5771n71 4 145045204 145179067 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880198,nsv880193 M 6533 2 0 GYPB,GYPE IS39243,MS10401 nsv880195 4 145050344 145141057 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570282 S 6533 1 0 GYPB IS31861 nsv880196 4 145050344 145204777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589581 S 6533 0 1 GYPB IS38386 esv2421355 4 145061542 145169643 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5149455,essv5054099,essv5109069,essv5064288,essv5030198,essv5025790,essv5150700,essv5033405,essv5038736,essv5139354,essv5154503,essv5046698,essv5160099,essv5085342,essv5131768,essv5093918,essv5055529,essv5034957,essv5086083,essv5151130,essv5109339,essv5143988,essv5143947,essv5051281,essv5011572,essv5052822,essv5095366,essv5081806,essv5075194,essv5084475,essv5113937,essv5076718,essv5068319,essv5062649,essv5092853,essv5153736,essv5103991,essv5024444,essv5077468 M 1184 0 39 GYPB NA06995,NA07435,NA18497,NA18499,NA18518,NA18519,NA18852,NA18917,NA18930,NA19027,NA19093,NA19102,NA19113,NA19115,NA19121,NA19123,NA19150,NA19151,NA19181,NA19207,NA19221,NA19223,NA19235,NA19248,NA19249,NA19383,NA19394,NA19398,NA19436,NA19443,NA19788,NA19790,NA19901,NA20302,NA20344,NA20349,NA21295,NA21693,NA21716 esv34775 4 145061643 145140282 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987401,essv6978465 M 771 0 1 GYPB NA19102 dgv1689e1 4 145061643 145171851 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7992,essv9531 M 271 0 0 GYPB NA19221,NA19223 nsv818281 4 145062088 145143848 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418268,nssv1417862 M 112 0 2 GYPB NA18852,NA19093 dgv1690e1 4 145062088 145262834 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8770,essv20478 M 271 0 0 GYPA,GYPB NA12249,NA19092 dgv5772n71 4 145075672 145168798 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880202,nsv880199 M 6533 2 0 GYPB SP81242,SP81560 essv16952 4 145084938 145351042 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GYPA,GYPB NA19144 dgv5773n71 4 145088458 145204777 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880204,nsv880201 M 6533 0 2 GYPB IS34804,MS25498 nsv469732 4 145097715 145279154 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649753 M 265 2 0 Samples from several populations that are part of the HapMap project. GYPA,GYPB dgv5774n71 4 145102194 145275028 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880206,nsv880205,nsv880203 M 6533 6 0 GYPA,GYPB IS31294,IS31703,IS36647,IS41782,MS17319,MS26001 dgv1691e1 4 145102893 145251291 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11359,essv5974,essv9848,essv16572,essv5606,essv11485 M 271 0 0 GYPA,GYPB NA18552,NA18593,NA18856,NA18858,NA19144,NA19193 nsv436881 4 145110657 145206094 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466158 S 2 1 0 Samples from several populations that are part of the HapMap project. GYPB NA18505 nsv435807 4 145112660 145211842 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466159 S 2 0 1 GYPB NA15510 dgv668n27 4 145113710 145255238 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461667,nsv461666 M 1557 2 0 GYPA,GYPB HGDP00031,HGDP00167 nsv437437 4 145124894 145133811 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467318 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv1692e1 4 145128016 145310810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5682,essv17216 M 271 0 0 GYPA,GYPB NA18605,NA18857 dgv5775n71 4 145128322 145275937 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880207,nsv880218,nsv880208,nsv880216,nsv880215,nsv880210,nsv880214,nsv880209,nsv880212,nsv880213,nsv880220,nsv880217,nsv880219,nsv880221,nsv880222 M 6533 68 0 GYPA,GYPB IS39330,IS41877,MS15103,MS23145,SP50084,SP50183,SP50535,SP50721,SP50772,SP50809,SP50989,SP51043,SP51188,SP51196,SP51260,SP51398,SP51427,SP52080,SP52110,SP52299,SP52329,SP52412,SP52543,SP52724,SP52858,SP53051,SP53685,SP53734,SP53827,SP53914,SP53999,SP54249,SP54294,SP54317,SP54682,SP54753,SP54861,SP54884,SP54905,SP55407,SP55436,SP55509,SP55553,SP55748,SP55765,SP56012,SP56089,SP56631,SP56726,SP56773,SP56986,SP57078,SP57158,SP57173,SP57201,SP57306,SP57410,SP57734,SP57856,SP58575,SP80947,SP80948,SP80967,SP81431,SP81440,SP81485,SP81498,SP81578 nsv880211 4 145129253 145275028 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560403,nssv1528730,nssv1525925 M 6533 2 1 GYPA,GYPB MS24471,SP56894,SP81353 esv29621 4 145132085 145238644 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17826,esv20636,esv11735 M 451 1 3 GYPB NA18858,NA19147,NA19190,NA19225 nsv437438 4 145134343 145158180 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467319 S 60 0 1 Samples from several populations that are part of the HapMap project. GYPB NA18521 nsv822759 4 145137955 145258829 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422563 S 31 1 0 GYPA,GYPB NA18552 nsv441919 4 145140024 145144387 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GYPB esv34834 4 145140282 145251291 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986863,essv6979424 M 771 1 0 GYPA,GYPB NA18552 nsv514257 4 145140944 145260336 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627698 S 1414 1 0 GYPA,GYPB nsv818282 4 145141057 145253260 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417269 S 112 1 0 GYPA,GYPB NA18593 dgv669n27 4 145141057 145275937 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461671,nsv461669,nsv461673,nsv461670,nsv461668 M 1557 5 0 GYPA,GYPB HGDP00106,HGDP00672,HGDP00711,HGDP01273,HGDP01341 nsv437439 4 145149665 145164634 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467320 S 60 0 1 Samples from several populations that are part of the HapMap project. GYPB NA18857 nsv437440 4 145169820 145187951 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467321 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18857 nsv437441 4 145187951 145205653 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467322 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18857 dgv5776n71 4 145204777 145259965 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880225,nsv880223 M 6533 2 0 GYPA MS13253,SP54189 nsv880224 4 145204777 145275028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591566 S 6533 0 1 GYPA IS38993 nsv441920 4 145220925 145232498 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv5777n71 4 145224289 145259965 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880226,nsv880227 M 6533 2 0 GYPA SP52117,SP53821 dgv5778n71 4 145224289 145285935 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880229,nsv880228 M 6533 2 0 GYPA SP55174,SP81560 nsv880230 4 145239994 145273588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512882 S 6533 1 0 GYPA SP55649 nsv880231 4 145244249 145312307 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508226 S 6533 1 0 GYPA SP54625 nsv10585 4 145342997 145344931 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14303 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 esv1123297 4 145454779 145454779 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357924 S 2 1 0 "" HuRef esv1691646 4 145454839 145454902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099552 S 2 0 1 "" HuRef nsv4534 4 145526100 145554666 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3291,nssv2484 M 9 0 2 "" NA12878,NA18555 esv1002030 4 145530927 145541630 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563767 S 3 0 1 "" HuRef nsv508319 4 145532032 145540833 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622502 S 4 0 1 "" NA18994 nsv513170 4 145534485 145540159 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626667 S 1 0 1 "" 1 nsv499069 4 145535895 145539358 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585930 S 9 0 1 "" esv28506 4 145538516 145539377 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16152 S 451 2 1 "" NA12414,NA12749,NA12776 esv268159 4 145614721 145615059 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557849,essv2565584,essv2571724,essv2546405,essv2542413,essv2536794,essv2570909,essv2556608,essv2545624,essv2523243,essv2577630,essv2570694,essv2548579,essv2550607,essv2525395,essv2550343,essv2535143,essv2553933,essv2544527,essv2552137,essv2520370,essv2547608,essv2564505,essv2553731,essv2565444,essv2555113,essv2537642,essv2528248,essv2547010,essv2563011,essv2552771,essv2540513,essv2549574,essv2519813,essv2560098,essv2565956,essv2531182,essv2532887,essv2528727,essv2541799,essv2563650,essv2535816,essv2556249,essv2555437,essv2555605,essv2567042,essv2573998,essv2522506,essv2531648,essv2536295,essv2548857,essv2525015 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07357,NA10851,NA11829,NA11840,NA11881,NA11919,NA11920,NA11993,NA11994,NA12003,NA12004,NA12043,NA12044,NA12045,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12751,NA12763,NA12812,NA12872,NA12878,NA12891,NA12892,NA18532,NA18542,NA18552,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18579,NA18592,NA18603,NA18608,NA18871,NA18943,NA18945,NA18947,NA18951,NA18960,NA18961 esv273790 4 145614723 145615059 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582202,essv2582509,essv2583215 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv270797 4 145697027 145697344 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505297,essv2500883,essv2507077,essv2504766 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA18856,NA18870,NA19099 nsv521172 4 145705839 145716391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686503,nssv683809 M 2026 0 2 "" nsv818283 4 145708715 145711453 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416058,nssv1416057 M 112 0 2 "" NA12801,NA12813 nsv520518 4 145708715 145732503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697465 S 2026 0 1 "" esv8075 4 145720817 145720907 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30516 S 1 1 0 "" SJK esv2578862 4 145869938 145871300 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188149 S 1 0 1 HHIP NA18507 nsv290775 4 145883546 145883598 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309353 M 24 "" esv22214 4 146153491 146174868 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20662 S 451 1 0 ANAPC10 NA18916 dgv174n6 4 146167590 146175125 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289729,nsv289382 M 24 ANAPC10 esv2653755 4 146178500 146180062 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348822 S 1 0 1 ANAPC10 NA18507 dgv5779n71 4 146239475 146253813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880232,nsv880233 M 6533 0 2 ABCE1 SP54381,SP57367 nsv880234 4 146243479 146267384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505566 S 6533 0 1 ABCE1 SP53687 nsv880235 4 146252392 146265209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508375 S 6533 0 1 ABCE1 SP54620 nsv880236 4 146259331 146267384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514507 S 6533 0 1 ABCE1 SP56007 esv25386 4 146320459 146321497 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13193 S 451 0 1 "" NA07045 esv2511797 4 146350300 146351771 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276504 S 1 0 1 "" NA18507 dgv175n6 4 146461918 146461999 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291481,nsv290279 M 24 "" nsv290762 4 146495129 146504912 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309340 M 24 "" nsv880237 4 146532550 146859224 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537823 S 6533 1 0 C4orf51,MMAA,SMAD1 MS13379 esv1000240 4 146654780 146663673 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563939 S 3 0 1 SMAD1 HuRef nsv511241 4 146655600 146670420 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624577 S 1 0 1 SMAD1 1 nsv513171 4 146657782 146659961 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626668 S 1 0 1 SMAD1 1 dgv900n67 4 146658131 146659522 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822761,nsv822762,nsv822760 M 31 0 8 SMAD1 AK10,AK16,AK8,NA18537,NA18547,NA18552,NA18570,NA18942 dgv128e180 4 146658241 146659592 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009584,esv990378 M 3 0 1 SMAD1 HuRef esv1540098 4 146658263 146659907 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197851 S 2 0 1 SMAD1 HuRef esv28792 4 146658284 146660448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11526 S 451 0 10 SMAD1 NA11894,NA11995,NA12004,NA12156,NA12239,NA12414,NA12749,NA12776,NA18916,NA19147 nsv822763 4 146667397 146668599 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426616,nssv1437405,nssv1425585 M 31 0 3 SMAD1 AK6,NA18949,NA18968 nsv830105 4 146716840 146889987 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444016 S 95 0 1 C4orf51,MMAA esv260015 4 146832374 146832686 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399021,essv2400319,essv2401127,essv2399369,essv2395626,essv2396479,essv2400952,essv2395058,essv2398809,essv2400124,essv2397767,essv2401018 M 144 0 0 Samples from several populations that are part of the HapMap project. C4orf51 NA10851,NA11881,NA11931,NA12287,NA18501,NA18517,NA18547,NA18571,NA18582,NA18861,NA18956,NA19099 esv5587 4 146832410 146832481 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28028 S 1 1 0 C4orf51 SJK esv1009413 4 146933912 146933912 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577265 S 3 1 0 ZNF827 HuRef esv1522611 4 146933940 146933940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836912 S 2 1 0 ZNF827 HuRef esv2544769 4 146936334 146937693 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369202 S 1 0 1 ZNF827 NA18507 nsv830106 4 146947853 147113043 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444019,nssv1444017 M 95 2 0 ZNF827 nsv508320 4 147093250 147177546 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618755 S 4 0 1 "" NA10860 esv26283 4 147121296 147123822 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20596 S 451 0 2 "" NA18505,NA18511 nsv519375 4 147122661 147123754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675339,nssv685304,nssv674723,nssv679091,nssv657619,nssv690456,nssv662208,nssv681976,nssv660843,nssv673686,nssv655735 M 2026 0 11 "" nsv4535 4 147133233 147171403 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4784,nssv7122 M 9 0 2 "" NA12156,NA19129 esv27987 4 147138060 147147108 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14307,esv10760 M 451 0 13 "" NA11995,NA12004,NA12156,NA12239,NA12287,NA12749,NA12776,NA18508,NA18517,NA18916,NA19099,NA19108,NA19225 esv992581 4 147138587 147147190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565552 S 3 0 1 "" HuRef nsv513172 4 147138822 147147727 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626669 S 1 0 1 "" 1 nsv499070 4 147139028 147147193 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585931 S 9 0 1 "" esv1526112 4 147139031 147147193 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735301 S 2 0 1 "" HuRef esv1009794 4 147144517 147147108 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586056 S 3 0 1 "" HuRef esv2444591 4 147145609 147147291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357351 S 1 0 1 "" NA18507 nsv461674 4 147266522 147363022 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538035 S 1557 1 0 LSM6 1798860336_A nsv461675 4 147336314 147987656 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538036 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations POU4F2,SLC10A7,TTC29 HGDP01250 nsv4536 4 147356563 147364710 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3138 S 9 1 0 "" NA18555 nsv822765 4 147394628 147395163 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423357 S 31 1 0 SLC10A7 NA18999 nsv822766 4 147425729 147428004 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423358 S 31 0 1 SLC10A7 NA18999 esv27195 4 147426276 147427907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14226 S 451 0 9 SLC10A7 NA11995,NA12004,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA19108 nsv4537 4 147426617 147456062 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv418,nssv4785,nssv3292 M 9 3 0 SLC10A7 NA12878,NA19129,NA19240 esv8434 4 147426897 147427323 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30875 S 1 0 1 SLC10A7 SJK esv1004247 4 147427217 147427716 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566586 S 3 0 1 SLC10A7 HuRef esv2438325 4 147427543 147428494 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260528 S 1 1 0 SLC10A7 NA18507 nsv819040 4 147431692 147437356 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419728 S 2 0 1 SLC10A7 AK1 nsv509017 4 147433741 147456932 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620795,nssv623418 M 4 2 0 SLC10A7 NA15510,NA18994 esv1000928 4 147444198 147445617 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565150 S 3 1 0 SLC10A7 HuRef esv267902 4 147444710 147444795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514625,essv2516716,essv2517501,essv2517104,essv2518811,essv2515423,essv2518643,essv2516528,essv2515753,essv2515884,essv2517751,essv2515826,essv2513955,essv2518260,essv2519471,essv2513640 M 157 16 0 Samples from several populations that are part of the HapMap project. SLC10A7 NA07346,NA07347,NA11840,NA11881,NA11918,NA11931,NA12045,NA12249,NA12287,NA12814,NA12815,NA12873,NA12878,NA18969,NA19143,NA19240 esv273732 4 147444710 147444795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581428,essv2581256 M 7 2 0 Samples from several populations that are part of the HapMap project. SLC10A7 NA12878,NA19240 esv1640176 4 147444746 147444746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210012 S 2 1 0 SLC10A7 HuRef nsv822767 4 147541688 147550505 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426015,nssv1432793 M 31 0 2 SLC10A7 NA18947,NA18972 esv28273 4 147549176 147552278 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17172 S 451 1 0 SLC10A7 NA18511 nsv428453 4 147555403 147676565 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450177 S 62 1 0 SLC10A7 HGDP01093 esv2550267 4 147570148 147571256 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190739 S 1 1 0 SLC10A7 NA18507 esv269966 4 147570601 147570727 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510541,essv2502923,essv2494840,essv2508957,essv2506144,essv2505887,essv2507270,essv2494093 M 157 8 0 Samples from several populations that are part of the HapMap project. SLC10A7 NA18501,NA18507,NA18519,NA18522,NA18523,NA18861,NA18870,NA18871 esv271331 4 147620584 147621001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509304,essv2498951,essv2499750 M 157 3 0 Samples from several populations that are part of the HapMap project. SLC10A7 NA18909,NA19114,NA19225 nsv4538 4 147628218 147660598 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7124 S 9 1 0 SLC10A7 NA12156 nsv830107 4 147671884 147855170 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444020 S 95 1 0 POU4F2,TTC29 nsv880238 4 147689009 147837413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597416 S 6533 0 1 POU4F2 IS41292 nsv527738 4 147748659 147757514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704222 S 2026 0 1 "" nsv822768 4 147776436 147782104 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432794 S 31 1 0 POU4F2 NA18972 esv2076138 4 147813222 147813654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726867 S 1 0 1 "" NA18507 nsv880239 4 147886247 147999449 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528227 S 6533 0 1 TTC29 SP81161 esv2456671 4 148072017 148073309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272917 S 1 0 1 TTC29 NA18507 nsv880240 4 148125347 148251453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539948 S 6533 0 1 "" MS14630 esv2535861 4 148139517 148140866 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331200 S 1 0 1 "" NA18507 esv2408374 4 148139845 148140568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585769 S 1 0 1 "" NA18507 esv1010260 4 148140041 148140353 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579281 S 3 0 1 "" HuRef dgv176n6 4 148140041 148140366 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292454,nsv290264 M 24 "" esv1429102 4 148140053 148140366 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852966 S 2 0 1 "" HuRef nsv461676 4 148146677 148181882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538037 S 1557 0 1 "" 1780854489_A esv2655197 4 148171069 148172558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261685 S 1 0 1 "" NA18507 esv273977 4 148173135 148173458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580180,essv2579973,essv2580923,essv2579309 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239 esv271528 4 148173345 148173492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511061,essv2493430,essv2511879,essv2510535,essv2494179,essv2501209,essv2494859,essv2494952,essv2509109,essv2497303,essv2494072,essv2513505,essv2504959,essv2499508 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11831,NA12763,NA18499,NA18501,NA18502,NA18516,NA18519,NA18520,NA18522,NA18545,NA18871,NA18907,NA18942 esv989671 4 148173392 148173392 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581742 S 3 1 0 "" HuRef nsv290501 4 148235990 148236221 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309079 M 24 "" nsv292371 4 148236286 148236286 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310949 M 24 "" esv1184763 4 148236428 148236428 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121059 S 2 1 0 "" HuRef esv23215 4 148240237 148242157 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16276 S 451 0 1 "" NA19225 esv998323 4 148250042 148250098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583442 S 3 0 1 "" HuRef esv274295 4 148273362 148273615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579195 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269756 4 148273371 148273700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557774,essv2540945,essv2571664,essv2546169,essv2521145,essv2526097,essv2542512,essv2544108,essv2570934,essv2556748,essv2568393,essv2545350,essv2523418,essv2531811,essv2577491,essv2548560,essv2521626,essv2576567,essv2550802,essv2525225,essv2550382,essv2535375,essv2554209,essv2544511,essv2552099,essv2520349,essv2547394,essv2529165,essv2564468,essv2577837,essv2553745,essv2565328,essv2576170,essv2520129,essv2564226,essv2555150,essv2528237,essv2547105,essv2530495,essv2520783,essv2552707,essv2551896,essv2578743,essv2550254,essv2539205,essv2561574,essv2544637,essv2562903,essv2523597,essv2553100,essv2541360,essv2540465,essv2524715,essv2564987,essv2534849,essv2560948,essv2539786,essv2549572,essv2560014,essv2522245,essv2566047,essv2531157,essv2532597,essv2567993,essv2528895,essv2567480,essv2570167,essv2563852,essv2553435,essv2535835,essv2572581,essv2559159,essv2566760,essv2542016,essv2556446,essv2528110,essv2539494,essv2533820,essv2578414,essv2573123,essv2533657,essv2567141,essv2566679,essv2530020,essv2574021,essv2527409,essv2522546,essv2531455,essv2573698,essv2543375,essv2576952,essv2571966,essv2525750,essv2526987,essv2575654,essv2575174,essv2538854,essv2560625,essv2524107,essv2568570,essv2545057,essv2560172,essv2571438,essv2574354,essv2535921,essv2537734,essv2548842,essv2533185,essv2554563,essv2547949,essv2524785,essv2563321 M 157 112 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12891,NA12892,NA18486,NA18498,NA18502,NA18504,NA18510,NA18511,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18871,NA18907,NA18912,NA18916,NA18940,NA18942,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19099,NA19102,NA19108,NA19116,NA19129,NA19147,NA19172,NA19190,NA19238,NA19240 esv1164476 4 148273400 148273400 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808421 S 2 1 0 "" HuRef nsv830108 4 148334102 148530554 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444021 S 95 0 1 "" nsv4539 4 148411394 148437274 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9401 S 9 1 0 "" NA18517 nsv4540 4 148450043 148495228 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8010 S 9 0 1 "" NA12156 esv268217 4 148475367 148475767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500171,essv2507614,essv2501601 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12006,NA18576,NA18608 esv1785951 4 148498827 148498876 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045240 S 2 0 1 "" HuRef nsv830109 4 148514511 148688055 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444022 S 95 0 1 EDNRA esv1961917 4 148561750 148562233 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919039 S 1 0 1 "" NA18507 esv1191025 4 148561913 148561913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602275 S 2 1 0 "" HuRef esv1380233 4 148562078 148562078 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090819 S 2 1 0 "" HuRef nsv880241 4 148630628 148680523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556302 S 6533 0 1 EDNRA MS21905 nsv830110 4 148651575 148814569 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444023 S 95 0 1 EDNRA,PRMT10,TMEM184C esv2274849 4 148678229 148678644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834204 S 1 0 1 EDNRA NA18507 esv27209 4 148735099 148739275 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13564 S 451 2 0 "" NA11995,NA12828 nsv293162 4 148848160 148851062 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311740 M 24 "" nsv880242 4 148878587 148946805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566093 S 6533 1 0 ARHGAP10,MIR4799 IS30590 dgv5780n71 4 148955094 149139539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880244,nsv880243 M 6533 0 2 ARHGAP10 IS33622,MS22858 esv274865 4 148998899 149001514 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585897,essv2585534 M 1250 1 1 ARHGAP10 nsv292987 4 149060892 149060892 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311565 M 24 ARHGAP10 esv259874 4 149144400 149144663 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398924,essv2395571,essv2400727,essv2396998,essv2398372 M 144 0 0 Samples from several populations that are part of the HapMap project. ARHGAP10 NA11995,NA18501,NA18542,NA18973,NA19093 nsv4541 4 149266396 149284089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9647 S 9 1 0 NR3C2 NA18507 nsv293429 4 149271443 149275244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312007 M 24 NR3C2 esv25663 4 149319312 149321073 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21049 S 451 0 1 NR3C2 NA11931 nsv880245 4 149352206 149402824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580208 S 6533 0 1 NR3C2 IS35242 nsv527076 4 149416441 149421069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703455 S 2026 0 1 NR3C2 esv2197125 4 149450022 149450402 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997721 S 1 0 1 NR3C2 NA18507 esv259480 4 149506930 149507181 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394148,essv2393963,essv2393741,essv2394035,essv2394309 M 6 0 0 Samples from several populations that are part of the HapMap project. NR3C2 NA12878,NA12891,NA19238,NA19239,NA19240 esv1084601 4 149507082 149507082 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188454 S 2 1 0 NR3C2 HuRef nsv880246 4 149507257 149531178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518920 S 6533 0 1 NR3C2 SP58561 nsv822769 4 149578748 149588612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432795 S 31 1 0 NR3C2 NA18972 esv27994 4 149584859 149586458 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18048 S 451 0 1 "" NA07045 esv1716886 4 149633206 149633297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764699 S 2 0 1 "" HuRef nsv291316 4 149633207 149633262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309894 M 24 "" esv1764855 4 149635215 149635310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768271 S 2 0 1 "" HuRef esv21540 4 149646075 149649509 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17327 S 451 0 1 "" NA19225 esv1334714 4 149648346 149648346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657787 S 2 1 0 "" HuRef esv1138746 4 149648375 149648375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347216 S 2 1 0 "" HuRef esv1083281 4 149649041 149649105 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714863 S 2 0 1 "" HuRef esv2502546 4 149682873 149684262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357733 S 1 0 1 "" NA18507 nsv519984 4 149798530 149804166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659878,nssv685253 M 2026 0 2 "" nsv291106 4 149882142 149890100 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309684 M 24 "" esv267917 4 149914238 149914405 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545628,essv2540147,essv2557424,essv2557095,essv2551815,essv2527819,essv2534083,essv2529582,essv2575293,essv2574664,essv2572805 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA18489,NA18499,NA18501,NA18504,NA18907,NA18916,NA19093,NA19102,NA19138,NA19143 esv269195 4 149944867 149950933 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504167,essv2505705,essv2507308,essv2497454 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18861,NA18912,NA19147 nsv822770 4 149949751 149950239 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425713 S 31 1 0 "" AK4 nsv4542 4 149956321 149972824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9648 S 9 1 0 "" NA18507 nsv461677 4 150013734 150123432 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538038 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00959 nsv470083 4 150036502 150123432 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546380 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00959 esv1599412 4 150187486 150187712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309251 S 2 0 1 "" HuRef nsv4544 4 150199250 150245773 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10424 S 9 0 1 "" NA18956 esv991868 4 150209870 150212140 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564200 S 3 0 1 "" HuRef esv1270305 4 150210032 150212031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311319 S 2 0 1 "" HuRef nsv4545 4 150228699 150256640 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3293 S 9 1 0 "" NA12878 nsv880247 4 150277429 150379386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542110 S 6533 0 1 "" MS15658 nsv880248 4 150311628 150420156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595143 S 6533 0 1 "" IS40135 nsv880249 4 150376029 150499671 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526694 S 6533 1 0 "" SP57723 esv2638858 4 150380033 150381390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319909 S 1 0 1 "" NA18507 esv2056842 4 150380294 150381020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724932 S 1 0 1 "" NA18507 esv1001520 4 150380373 150380993 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565312 S 3 0 1 "" HuRef esv4268 4 150380459 150380937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26709 S 1 0 1 Single Asian sample YH "" YH esv1002556 4 150380493 150380834 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568105 S 3 0 1 "" HuRef esv1559216 4 150380506 150380848 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329262 S 2 0 1 "" HuRef nsv291651 4 150380507 150380848 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310229 M 24 "" esv7861 4 150380518 150380840 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30302 S 1 0 1 "" SJK nsv822771 4 150456987 150457429 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425714 S 31 1 0 "" AK4 esv267488 4 150464684 150465012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516794,essv2519186,essv2516956,essv2515957,essv2517830 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11931,NA12873,NA12878 esv273042 4 150464684 150465012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581620 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv290008 4 150485304 150491924 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308586 M 24 "" esv988056 4 150499445 150499445 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566724 S 3 1 0 "" HuRef esv1702722 4 150509540 150509640 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255304 S 2 0 1 "" HuRef nsv880250 4 150536521 150774041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539194 S 6533 1 0 "" MS14256 esv2241331 4 150561403 150561840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572099 S 1 0 1 "" NA18507 dgv5781n71 4 150568445 150774041 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880252,nsv880251 M 6533 0 2 "" IS30398,MS19587 nsv880253 4 150618432 150875102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566466 S 6533 0 1 "" IS30742 esv2582960 4 150756016 150757334 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270836 S 1 0 1 "" NA18507 nsv822772 4 150773699 150777357 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435042 S 31 0 1 "" NA18942 esv2091740 4 150779322 150779743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901546 S 1 0 1 "" NA18507 esv8920 4 150827016 150827085 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31361 S 1 1 0 "" SJK esv994843 4 150919193 150924484 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565671 S 3 0 1 "" HuRef nsv880254 4 150932373 151072232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556007 S 6533 0 1 "" MS21738 nsv518267 4 150996462 151015004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695698 S 2026 0 1 "" nsv880255 4 150996462 151094280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547226,nssv1563027 M 6533 0 2 "" MS17237,MS25831 esv268938 4 151018245 151024350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497313,essv2511284,essv2507637,essv2512909,essv2511600,essv2503150,essv2502409,essv2512275,essv2493127,essv2500518,essv2497367,essv2503754,essv2512823,essv2505583 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18570,NA18576,NA18609,NA18940,NA18943,NA18948,NA18949,NA18951,NA18956,NA18959,NA18960,NA18980,NA19005 nsv516344 4 151081476 151094280 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667714,nssv688012 M 2026 2 0 "" nsv830111 4 151086807 151255006 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444024 S 95 1 0 DCLK2 esv1006678 4 151120558 151127007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563925 S 3 0 1 "" HuRef esv275559 4 151124296 151128498 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585749,essv2586063 M 1250 1 1 "" esv2481569 4 151169974 151171512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375651 S 1 0 1 "" NA18507 esv2031301 4 151170296 151170968 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768046 S 1 0 1 "" NA18507 esv4411 4 151170413 151170876 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26852 S 1 0 1 Single Asian sample YH "" YH esv2463111 4 151170486 151170807 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322209 S 1 0 1 "" NA18507 esv1395297 4 151170490 151170812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036767 S 2 0 1 "" HuRef nsv293314 4 151170491 151170812 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311892 M 24 "" nsv292617 4 151335745 151335803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311195 M 24 DCLK2 nsv880256 4 151346175 151970819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597192 S 6533 1 0 DCLK2,LRBA,MAB21L2 IS40759 nsv509018 4 151378273 151405854 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620796,nssv619385 M 4 2 0 DCLK2,LRBA NA10860,NA15510 nsv261 4 151379647 151409247 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv261 S 1 1 0 DCLK2,LRBA NA15510 nsv4546 4 151379647 151415583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv419,nssv3294,nssv11092,nssv4787 M 9 4 0 DCLK2,LRBA NA12878,NA15510,NA19129,NA19240 nsv507204 4 151388837 151394837 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622909 S 4 1 0 DCLK2 NA18994 nsv880257 4 151389837 151450821 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526211 S 6533 1 0 DCLK2,LRBA SP57073 esv1001185 4 151390460 151392838 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564861 S 3 1 0 DCLK2 HuRef nsv880258 4 151390532 151410254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503757 S 6533 1 0 DCLK2,LRBA SP52109 nsv517536 4 151418530 151418947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652291,nssv674005 M 2026 0 2 LRBA dgv5782n71 4 151430211 151587195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880260,nsv880259 M 6533 0 2 LRBA IS33669,IS39011 nsv830112 4 151463251 151651221 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444025 S 95 1 0 LRBA esv2512633 4 151512737 151513888 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355678 S 1 1 0 LRBA NA18507 esv268953 4 151513331 151513667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514541,essv2516736,essv2519275,essv2517413,essv2518794,essv2514785,essv2515449,essv2518539,essv2515160,essv2516521,essv2518169,essv2517810,essv2513643 M 157 13 0 Samples from several populations that are part of the HapMap project. LRBA NA07347,NA11840,NA11881,NA11894,NA11918,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12872,NA12878 esv272174 4 151513331 151513667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581574 S 7 1 0 Samples from several populations that are part of the HapMap project. LRBA NA12878 nsv527113 4 151533765 151535884 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703495 S 2026 1 0 LRBA esv1614257 4 151561104 151561584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832160 S 2 0 1 LRBA HuRef esv1140586 4 151561744 151561744 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115708 S 2 1 0 LRBA HuRef nsv822773 4 151696614 151697312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428089 S 31 0 1 LRBA NA18592 nsv4547 4 151705730 151750929 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8011 S 9 0 1 LRBA,MAB21L2 NA12156 nsv880261 4 151741383 151807933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515311 S 6533 0 1 LRBA SP56154 nsv830113 4 151757634 151911392 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444026 S 95 0 1 LRBA nsv290414 4 151780342 151780393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308992 M 24 LRBA nsv526976 4 151895269 152274523 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703348 S 2026 1 0 LRBA,RPS3A,SH3D19,SNORD73A esv272425 4 151909109 151909892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581434 S 7 1 0 Samples from several populations that are part of the HapMap project. LRBA NA12878 nsv880262 4 151931504 152739349 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501183 S 6533 1 0 FAM160A1,LRBA,PRSS48,RPS3A,SH3D19,SNORD73A SP50998 nsv880576 4 151970819 152155599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598431 S 6533 0 1 LRBA IS41068 esv7582 4 151971975 151972032 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30023 S 1 1 0 LRBA SJK nsv881254 4 152049274 152155599 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523820 S 6533 1 0 LRBA SP54220 nsv880429 4 152063926 152155599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531253 S 6533 0 1 LRBA MS10386 nsv437442 4 152064380 152103763 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467323 S 60 0 1 Samples from several populations that are part of the HapMap project. LRBA NA19103 nsv880862 4 152074700 152106730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556334 S 6533 0 1 LRBA MS21925 nsv527494 4 152084972 152100215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703942 S 2026 0 1 LRBA nsv818284 4 152084972 152106730 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418449,nssv1418447 M 112 0 2 LRBA NA19193,NA19194 nsv461678 4 152084972 152200086 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538039 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRBA HGDP00241 nsv4548 4 152086464 152127480 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4788,nssv420 M 9 0 2 LRBA NA19129,NA19240 nsv517186 4 152090923 152102740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689316,nssv672324,nssv664339,nssv687247,nssv658192,nssv668834,nssv687873,nssv690713,nssv660792,nssv665673,nssv668883,nssv688935,nssv683056,nssv654732,nssv676270,nssv683958,nssv675351,nssv653959,nssv689292,nssv686557,nssv693817,nssv693962,nssv655311,nssv688774,nssv677135,nssv678820,nssv671477,nssv660277,nssv662543,nssv654084,nssv680919,nssv668053,nssv658827,nssv663582,nssv662056,nssv656595,nssv660341,nssv665458,nssv669870,nssv652205,nssv677427,nssv686168,nssv656408,nssv664990 M 2026 0 44 LRBA nsv437443 4 152090923 152103763 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467324 S 60 0 1 Samples from several populations that are part of the HapMap project. LRBA NA18515 nsv10586 4 152093621 152106521 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13051,nssv13662,nssv13701,nssv12500 M 31 0 4 Samples from several populations that are part of the HapMap project. LRBA NA18502,NA18853,NA18860,NA19240 esv1685814 4 152094588 152094588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593011 S 2 1 0 LRBA HuRef nsv499071 4 152095012 152105390 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585932 S 9 0 1 LRBA esv22008 4 152095462 152104851 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12314,esv18505 M 451 0 9 LRBA NA18502,NA18508,NA18511,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240 nsv442923 4 152095801 152103748 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LRBA esv2421568 4 152095801 152103763 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156808,essv5105940,essv5157506,essv5141773,essv5075570,essv5160964,essv5033499,essv5071729,essv5131184,essv5132789,essv5069144,essv5125800,essv5142398,essv5019765,essv5072052,essv5128660,essv5155485,essv5112126,essv5050699,essv5088546,essv5016590,essv5138274,essv5112376,essv5099665,essv5151301,essv5095277,essv5148924,essv5127957,essv5068117,essv5040025,essv5013110,essv5114100,essv5071484,essv5004391,essv5078033,essv5111322,essv5009512,essv5022865,essv5080039,essv5117553,essv5017436,essv5064309,essv5015361,essv5042034,essv5003054,essv5065411,essv5060731,essv5126349,essv5067314,essv5141037,essv5080125,essv5015343,essv5146874,essv5029197,essv5021494,essv5065222,essv5051878,essv5012562,essv5063328,essv5030846,essv5119663,essv5018424,essv5150101,essv5060339,essv5123991,essv5112501,essv5075868,essv5147748,essv5013288,essv5063225,essv5113790,essv5026762,essv5027460,essv5009311,essv5098199,essv5074554,essv5079094,essv5087734,essv5070571,essv5018050,essv5010014,essv5152232,essv5023164,essv5147375,essv5062837,essv5105947,essv5065580,essv5084680,essv5113962,essv5091308,essv5052061,essv5012998,essv5142365,essv5119032,essv5091361,essv5146358,essv5053085,essv5088356,essv5057800,essv5062161,essv5128107,essv5066945,essv5158278,essv5021678,essv5110654,essv5082171,essv5117433,essv5018669,essv5002024,essv5065753,essv5024907,essv5144195,essv5094056,essv5013391,essv5076259,essv5032166,essv5058580,essv5126012,essv5075306,essv5019804,essv5082332,essv5150110,essv5091909,essv5090267,essv5146493,essv5080060,essv5145036,essv5139017,essv5034561,essv5045336,essv5103121,essv5035628,essv5011657,essv5007394,essv5059485,essv5037697,essv5066359,essv5054633,essv5073823,essv5021986,essv5105742,essv5026580,essv5145854,essv5118335,essv5090253,essv5056798,essv5115796,essv5074713,essv5067012,essv5138848,essv5048104,essv5068757,essv5137140,essv5015680,essv5080297,essv5035258,essv5123682,essv5064628,essv5160490,essv5114381,essv5062661,essv5015884,essv5149926,essv5077019,essv5056358,essv5116073,essv5055733,essv5077809,essv5027731,essv5049669,essv5064388,essv5047051,essv5124381,essv5049740,essv5035961,essv5005066,essv5067774,essv5048846,essv5105014,essv5011859,essv5107232,essv5004509,essv5082489,essv5145355,essv5139911,essv5077192,essv5148342 M 1184 0 187 LRBA NA18485,NA18487,NA18498,NA18506,NA18508,NA18509,NA18511,NA18515,NA18516,NA18518,NA18519,NA18520,NA18853,NA18855,NA18859,NA18860,NA18862,NA18863,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18913,NA18924,NA19031,NA19041,NA19046,NA19096,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19115,NA19117,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19137,NA19139,NA19140,NA19141,NA19142,NA19143,NA19150,NA19172,NA19174,NA19176,NA19178,NA19180,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19193,NA19194,NA19204,NA19209,NA19210,NA19211,NA19213,NA19215,NA19222,NA19224,NA19225,NA19226,NA19236,NA19239,NA19240,NA19248,NA19256,NA19310,NA19313,NA19314,NA19315,NA19316,NA19317,NA19321,NA19327,NA19332,NA19334,NA19372,NA19380,NA19381,NA19382,NA19384,NA19394,NA19396,NA19397,NA19440,NA19446,NA19451,NA19455,NA19457,NA19462,NA19468,NA19669,NA19700,NA19703,NA19705,NA19708,NA19755,NA19757,NA19818,NA19834,NA19900,NA19901,NA19902,NA19904,NA19908,NA19914,NA19917,NA19919,NA19921,NA19982,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20290,NA20291,NA20292,NA20294,NA20295,NA20332,NA20340,NA20348,NA20363,NA21317,NA21344,NA21353,NA21364,NA21366,NA21368,NA21371,NA21378,NA21379,NA21400,NA21401,NA21402,NA21414,NA21418,NA21421,NA21423,NA21425,NA21448,NA21451,NA21454,NA21455,NA21475,NA21478,NA21479,NA21480,NA21488,NA21521,NA21527,NA21576,NA21580,NA21583,NA21599,NA21601,NA21608,NA21614,NA21616,NA21620,NA21686,NA21689,NA21719,NA21723,NA21768,NA21776,NA21784 nsv437942 4 152100215 152103168 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468636,nssv468639,nssv468638,nssv468637 M 269 0 4 Samples from several populations that are part of the HapMap project. LRBA NA19143,NA19210,NA19211,NA19239 nsv514258 4 152101296 152103232 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627699 S 1414 0 1 LRBA nsv881526 4 152187745 152708537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523821 S 6533 1 0 FAM160A1,PRSS48,RPS3A,SH3D19,SNORD73A SP54220 nsv4549 4 152298879 152332427 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4789 S 9 1 0 SH3D19 NA19129 esv1227235 4 152355290 152355290 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273680 S 2 1 0 SH3D19 HuRef esv1003225 4 152420655 152420655 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585107 S 3 1 0 PRSS48 HuRef esv1380112 4 152420714 152420714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196163 S 2 1 0 PRSS48 HuRef nsv511273 4 152455211 152476232 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624933 S 1 0 1 "" 1 nsv4550 4 152462149 152493828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2485 S 9 1 0 "" NA18555 esv2529084 4 152471242 152474155 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359597 S 1 0 1 "" NA18507 nsv513173 4 152471538 152473623 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626670 S 1 0 1 "" 1 esv2221450 4 152471868 152473762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613125 S 1 0 1 "" NA18507 esv27026 4 152471900 152473393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17901 S 451 0 11 "" NA11894,NA11995,NA12004,NA18502,NA18505,NA18511,NA18517,NA18907,NA19099,NA19108,NA19129 nsv880624 4 152500096 152768562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541789,nssv1556736 M 6533 0 2 FAM160A1 MS15491,MS22146 nsv822774 4 152548939 152550092 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432796 S 31 1 0 FAM160A1 NA18972 esv2611953 4 152559600 152561785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175433 S 1 0 1 FAM160A1 NA18507 esv2051581 4 152559960 152561218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768159 S 1 0 1 FAM160A1 NA18507 esv3948 4 152560107 152561112 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26389 S 1 0 1 Single Asian sample YH FAM160A1 YH nsv881342 4 152583222 152779899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584432 S 6533 0 1 FAM160A1 IS36992 nsv830114 4 152620738 152768056 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444027 S 95 0 1 FAM160A1 nsv508321 4 152629444 152693906 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622504 S 4 0 1 FAM160A1 NA18994 nsv4551 4 152802067 152846817 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8012 S 9 0 1 FAM160A1,PET112 NA12156 esv996950 4 152822621 152823081 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586223 S 3 1 0 PET112 HuRef esv22209 4 152822621 152827443 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14313,esv14511 M 451 0 2 PET112 NA18505,NA19240 nsv508322 4 152836529 152898401 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619946 S 4 0 1 PET112 NA15510 nsv4552 4 152900661 152921907 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8013 S 9 0 1 PET112 NA12156 esv268346 4 152952237 152958299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526083,essv2536744,essv2568152,essv2523122,essv2558342,essv2553829,essv2519949,essv2561755,essv2563375 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11918,NA11920,NA11995,NA12004,NA12750,NA12763,NA12815,NA12874 esv24674 4 152981534 153009586 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16590,esv10133 M 451 5 0 "" NA11894,NA12414,NA19108,NA19190,NA19257 dgv1693e1 4 152995721 153016217 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19076,essv20699 M 271 0 0 "" NA11830,NA12802 esv1325 4 152995721 153029188 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 "" nsv820279 4 152997924 152998485 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419003 S 2 1 0 "" AK1 nsv821410 4 152997943 152998461 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420448 S 1 0 1 "" NA10851 nsv822776 4 152997943 152998461 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440315,nssv1436572,nssv1422566,nssv1428212,nssv1435043,nssv1438779,nssv1434381,nssv1438112,nssv1426027,nssv1423359,nssv1437406,nssv1432798,nssv1435826,nssv1429759,nssv1425596,nssv1441027,nssv1433617,nssv1430544,nssv1421667,nssv1429005,nssv1425715 M 31 21 0 "" AK12,AK14,AK16,AK4,NA18526,NA18542,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv471714 4 152998042 152998449 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv645995 M 0.218 95 "" dgv1694e1 4 153002089 153016217 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21955,essv22022 M 271 0 0 "" NA07000,NA12815 dgv1695e1 4 153005402 153014150 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2138,essv1555,essv3622,essv1311,essv2949 M 271 0 0 "" NA18966,NA18972,NA18973,NA18978,NA19012 dgv1696e1 4 153005402 153017216 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3840,essv14843,essv19480,essv25044,essv19160,essv3669,essv25082 M 271 0 0 "" NA12750,NA12801,NA12812,NA12892,NA18943,NA18953,NA19119 dgv1697e1 4 153005402 153029188 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9838,essv13988 M 271 0 0 "" NA19098,NA19144 nsv10587 4 153008681 153014386 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14333,nssv12718,nssv12247,nssv12165,nssv11500 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA11830,NA12802,NA18537,NA18972,NA19144 essv13224 4 153008843 153018824 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19120 nsv822777 4 153009582 153013660 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438780,nssv1439640 M 31 0 2 "" NA18537,NA18973 esv28064 4 153009586 153014231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20126 S 451 0 4 "" NA11894,NA12414,NA19190,NA19257 esv2421616 4 153010030 153012241 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5063359,essv5062674,essv5091442,essv5059541,essv5105522,essv5106866,essv5150558,essv5063795,essv5019457,essv5125123,essv5016259,essv5114375,essv5111441,essv5032801,essv5008753,essv5155669,essv5079234,essv5027693,essv5037239,essv5084684,essv5020995,essv5099545,essv5156863,essv5037751,essv5019521,essv5088774,essv5021024,essv5080839,essv5157664,essv5075796,essv5120488,essv5028167,essv5123622,essv5014250,essv5139761,essv5070539,essv5020282,essv5149082,essv5050988,essv5003162,essv5076565,essv5055796,essv5113696,essv5080399,essv5047427,essv5067393,essv5137652,essv5140828,essv5095213,essv5131403,essv5106545,essv5042998,essv5150484,essv5109549,essv5004339,essv5075227,essv5099153,essv5063499,essv5073637,essv5096713,essv5107200,essv5142785,essv5070609,essv5076547,essv5117905,essv5099223,essv5080878,essv5055035,essv5150586,essv5079274,essv5123068,essv5037485,essv5122980,essv5058968,essv5025305,essv5117266,essv5090801,essv5091898,essv5129489,essv5156443,essv5160770,essv5064907,essv5133422,essv5112609,essv5068498,essv5109451,essv5079050,essv5018661,essv5124913,essv5032035,essv5032361,essv5091924,essv5143498,essv5036541,essv5011242,essv5075581,essv5057316,essv5065053,essv5015427,essv5128865,essv5064471,essv5048422,essv5122108,essv5051823,essv5073314,essv5093432,essv5147731,essv5119498,essv5031634,essv5109818,essv5107286,essv5107380,essv5053570,essv5106650,essv5033021,essv5155557,essv5049081,essv5028257,essv5073911,essv5099906,essv5025740,essv5070450,essv5139594,essv5149597,essv5074659,essv5009685,essv5070210,essv5106825,essv5087102,essv5010917,essv5146516,essv5159298,essv5058516,essv5103519,essv5021070,essv5120037,essv5059717,essv5008913,essv5073036,essv5127062,essv5145039,essv5102160,essv5051188,essv5062668,essv5026645,essv5017315,essv5054807,essv5032546,essv5105699,essv5112470,essv5127721,essv5003078,essv5086427,essv5137843,essv5067373,essv5017456,essv5085530,essv5022485,essv5013909,essv5149502,essv5106236,essv5137924,essv5127525,essv5064760,essv5047027,essv5070505,essv5068600,essv5110372,essv5041654,essv5026425,essv5121536,essv5040477,essv5013551,essv5145551,essv5007029,essv5136777,essv5026848,essv5046270,essv5095797,essv5110324,essv5060710,essv5003769,essv5113042 M 1184 0 183 "" NA06986,NA07000,NA07031,NA10852,NA11830,NA11894,NA12045,NA12348,NA12375,NA12383,NA12750,NA12766,NA12767,NA12775,NA12778,NA12801,NA12802,NA12812,NA12815,NA12892,NA17972,NA17980,NA17982,NA18106,NA18117,NA18122,NA18125,NA18138,NA18537,NA18616,NA18943,NA18953,NA18962,NA18966,NA18972,NA18973,NA18978,NA19002,NA19010,NA19036,NA19044,NA19056,NA19067,NA19068,NA19070,NA19083,NA19085,NA19098,NA19119,NA19120,NA19137,NA19144,NA19149,NA19151,NA19190,NA19191,NA19213,NA19235,NA19257,NA19327,NA19346,NA19360,NA19394,NA19403,NA19430,NA19439,NA19468,NA19651,NA19653,NA19660,NA19669,NA19675,NA19677,NA19678,NA19685,NA19686,NA19708,NA19713,NA19723,NA19724,NA19746,NA19748,NA19749,NA19750,NA19751,NA19759,NA19760,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19789,NA19790,NA19904,NA19983,NA20126,NA20128,NA20284,NA20292,NA20348,NA20350,NA20519,NA20527,NA20529,NA20539,NA20541,NA20542,NA20756,NA20775,NA20785,NA20795,NA20799,NA20805,NA20807,NA20828,NA20845,NA20846,NA20847,NA20853,NA20861,NA20873,NA20874,NA20875,NA20888,NA20892,NA20897,NA20906,NA21091,NA21092,NA21099,NA21100,NA21107,NA21116,NA21301,NA21302,NA21333,NA21336,NA21344,NA21357,NA21364,NA21366,NA21368,NA21379,NA21381,NA21383,NA21391,NA21403,NA21404,NA21418,NA21435,NA21438,NA21454,NA21455,NA21475,NA21478,NA21485,NA21486,NA21487,NA21488,NA21509,NA21512,NA21513,NA21514,NA21519,NA21526,NA21529,NA21599,NA21608,NA21614,NA21615,NA21619,NA21620,NA21631,NA21635,NA21636,NA21647,NA21648,NA21689,NA21719,NA21723,NA21825 dgv190e55 4 153010845 153014150 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752031,esv2752032,esv2752033 M 771 0 3 "" BEC_395,BEC_671,SPC_19 nsv441921 4 153010979 153014149 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1698e1 4 153010983 153016217 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14670,essv4926,essv9264 M 271 0 0 "" NA18537,NA19137,NA19145 nsv515882 4 153011104 153012241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666301,nssv676490,nssv654964,nssv685443,nssv691755,nssv655478,nssv656168,nssv673622,nssv661025,nssv678331,nssv692474,nssv688110,nssv655914,nssv661331,nssv665133 M 2026 0 15 "" nsv10588 4 153027115 153029304 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12819 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv880341 4 153081135 153329706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559928 S 6533 0 1 "" MS24223 nsv509938 4 153190044 153196044 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618188 S 4 0 1 "" CHM nsv441922 4 153209736 153212189 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422051 4 153209736 153212191 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109959,essv5144871,essv5078589,essv5141620,essv5021329,essv5100594,essv5062381,essv5072831,essv5158747,essv5062376,essv5025526,essv5074249,essv5124987,essv5095628,essv5032922,essv5101880,essv5109410,essv5017392,essv5154905,essv5114670,essv5024131,essv5051988,essv5101723,essv5074833,essv5117662,essv5058616,essv5065431,essv5100248,essv5017770,essv5036693,essv5089351,essv5124764,essv5049135,essv5082418,essv5152176,essv5153956,essv5120826,essv5120162,essv5015447,essv5085057,essv5045808,essv5053138,essv5140319,essv5102686,essv5104514,essv5043922,essv5081664,essv5141799,essv5103846,essv5159386,essv5145289,essv5013682,essv5059698,essv5112901,essv5020904,essv5113192,essv5138373,essv5044605,essv5120796,essv5046472,essv5122035,essv5136900,essv5050605,essv5144276,essv5029674,essv5007620,essv5093593,essv5025423,essv5009348,essv5052198,essv5061900,essv5106536,essv5046011,essv5069585,essv5157687,essv5035731,essv5049114,essv5004871,essv5116732,essv5112483,essv5086852,essv5133998,essv5135993,essv5053829,essv5044345,essv5014159,essv5140582,essv5160079,essv5081160,essv5083797,essv5123724,essv5099383,essv5128378,essv5023363,essv5120173,essv5048196,essv5076315,essv5007681,essv5113464,essv5073957,essv5146538,essv5134529,essv5034305,essv5084090,essv5020831,essv5097280,essv5028984,essv5092085,essv5127541,essv5033521,essv5051940,essv5044785,essv5093295 M 1184 0 113 "" NA07051,NA10847,NA11931,NA11992,NA12239,NA12248,NA17968,NA17982,NA18117,NA18122,NA18125,NA18129,NA18138,NA18140,NA18143,NA18154,NA18484,NA18488,NA18518,NA18519,NA18532,NA18536,NA18537,NA18543,NA18562,NA18571,NA18579,NA18592,NA18595,NA18603,NA18608,NA18616,NA18631,NA18637,NA18638,NA18748,NA18862,NA18870,NA18910,NA18953,NA18963,NA18973,NA18974,NA18978,NA19002,NA19010,NA19027,NA19028,NA19056,NA19063,NA19067,NA19068,NA19070,NA19076,NA19083,NA19085,NA19203,NA19206,NA19385,NA19393,NA19439,NA19682,NA19722,NA19781,NA19789,NA19790,NA19901,NA19908,NA20333,NA20518,NA20519,NA20538,NA20543,NA20807,NA20845,NA20861,NA20873,NA20874,NA20875,NA20877,NA20884,NA20887,NA20888,NA20891,NA20894,NA20897,NA20898,NA20899,NA20902,NA20904,NA20906,NA20911,NA21086,NA21092,NA21094,NA21099,NA21100,NA21103,NA21104,NA21107,NA21109,NA21112,NA21117,NA21118,NA21125,NA21137,NA21142,NA21143,NA21382,NA21417,NA21424,NA21425,NA21473 esv7858 4 153209750 153213405 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30299 S 1 0 1 "" SJK esv23724 4 153209834 153213385 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16827 S 451 0 3 "" NA11931,NA12239,NA18907 dgv901n67 4 153210134 153213365 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822779,nsv822778 M 31 0 2 "" NA18537,NA18973 nsv515006 4 153210336 153212048 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628511 S 1414 0 0 "" dgv670n27 4 153210505 153212191 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461680,nsv461685,nsv461684,nsv461681,nsv461682 M 1557 0 5 "" HGDP00072,HGDP00218,HGDP00313,HGDP00958,HGDP01193 nsv517311 4 153210505 153212191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693765,nssv651680,nssv687527,nssv682710,nssv656101,nssv669457,nssv661371,nssv693913,nssv658261,nssv671785,nssv665102,nssv666500,nssv662606,nssv685669,nssv660757,nssv683090,nssv670860,nssv692557,nssv665459,nssv686504,nssv676017,nssv678101,nssv691990,nssv685492,nssv686427 M 2026 0 25 "" nsv818285 4 153210505 153212191 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417115 S 112 0 1 "" NA18537 nsv880774 4 153255193 153341268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541394 S 6533 0 1 "" MS15307 esv6271 4 153259650 153260935 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28712 S 1 0 1 "" SJK nsv516218 4 153449318 153528988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669389,nssv652641,nssv695955,nssv663248,nssv673006,nssv660720 M 2026 0 6 FBXW7 nsv4553 4 153464055 153490582 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2486 S 9 1 0 FBXW7 NA18555 nsv881544 4 153464719 153555896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518210 S 6533 0 1 FBXW7 SP57472 nsv523798 4 153490414 153624662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699626 S 2026 0 1 FBXW7 nsv830116 4 153556045 153753884 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444028 S 95 1 0 DKFZP434I0714,FBXW7,MIR3140,MIR4453 dgv671n27 4 153788544 153817738 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461688,nsv461689 M 1557 2 0 TMEM154 HGDP00135,HGDP00364 nsv521115 4 153805434 153809513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697795 S 2026 0 1 TMEM154 nsv461690 4 153817738 153861232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538048 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TMEM154 HGDP00218 nsv529018 4 153840979 153860063 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705729 S 2026 1 0 "" dgv129e180 4 153868918 153868982 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1001081,esv988323 M 3 0 1 "" HuRef esv1742930 4 153868932 153868986 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838486 S 2 0 1 "" HuRef nsv522511 4 153888854 154044565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705879 S 2026 0 1 ARFIP1,TIGD4 nsv516652 4 153904764 153951809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671814,nssv684682,nssv684137,nssv667850,nssv661722,nssv653286,nssv692734,nssv668231,nssv677622,nssv656982,nssv657481,nssv672711,nssv668183,nssv689185,nssv658998,nssv654814,nssv665936,nssv687592,nssv655612,nssv666463,nssv693017,nssv691631,nssv687223,nssv656169 M 2026 0 24 ARFIP1,TIGD4 nsv520249 4 153940142 154044565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697307 S 2026 0 1 ARFIP1 nsv830117 4 154027686 154263263 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444030 S 95 1 0 ARFIP1,FHDC1 nsv461691 4 154108090 154134453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538049 S 1557 0 1 FHDC1 1780854205_A nsv509019 4 154111803 154191185 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620797 S 4 1 0 FHDC1 NA15510 nsv4555 4 154131020 154140117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8014 S 9 1 0 "" NA12156 nsv521991 4 154131267 154134453 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694758 S 2026 1 0 "" nsv517491 4 154161072 154165460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680720,nssv690270,nssv654709,nssv652181,nssv657144,nssv667950 M 2026 0 6 "" esv2442567 4 154269697 154271308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200505 S 1 0 1 "" NA18507 esv3973 4 154270429 154270837 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26414 S 1 0 1 Single Asian sample YH "" YH nsv290708 4 154270575 154270716 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309286 M 24 "" nsv4556 4 154301681 154337667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4790,nssv3139 M 9 2 0 TRIM2 NA18555,NA19129 esv269045 4 154407675 154407760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516961,essv2517722 M 157 2 0 Samples from several populations that are part of the HapMap project. TRIM2 NA11931,NA12878 esv273567 4 154407675 154407760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581309 S 7 1 0 Samples from several populations that are part of the HapMap project. TRIM2 NA12878 esv28591 4 154452012 154454140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18582 S 451 0 2 TRIM2 NA19099,NA19129 nsv514259 4 154452016 154454128 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627700 S 1414 0 1 TRIM2 esv2567648 4 154454091 154455491 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374356 S 1 0 1 TRIM2 NA18507 esv2119302 4 154454594 154455195 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930547 S 1 0 1 TRIM2 NA18507 esv8682 4 154455813 154455896 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31123 S 1 1 0 TRIM2 SJK nsv509939 4 154464754 154470754 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622071,nssv618189 M 4 0 2 TRIM2 CHM,NA10860 nsv830118 4 154508809 154684156 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444031 S 95 0 1 KIAA0922,MND1 esv1507851 4 154522284 154522284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278251 S 2 1 0 MND1 HuRef esv259529 4 154600451 154600832 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393748,essv2393970,essv2394373 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259751 4 154600451 154600841 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397602,essv2394721,essv2394803,essv2398051,essv2398685,essv2399662,essv2395921,essv2397073,essv2400498,essv2394518 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA19114,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 nsv4557 4 154778471 154823510 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2487 S 9 0 1 "" NA18555 nsv525672 4 154809799 154814328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701829 S 2026 0 1 "" nsv10589 4 154900253 154902038 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12195,nssv12242 M 31 2 0 Samples from several populations that are part of the HapMap project. RNF175 NA07029,NA18537 esv28873 4 154977622 154984856 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14840 S 451 6 0 "" NA11931,NA12749,NA18508,NA19114,NA19190,NA19257 nsv4558 4 155069976 155103239 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8015 S 9 1 0 "" NA12156 nsv528701 4 155192518 155243393 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705348 S 2026 1 0 "" nsv509020 4 155284650 155299199 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619386,nssv620798,nssv623419,nssv618028 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv4559 4 155292846 155323722 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2488,nssv421,nssv7125,nssv3295,nssv4791 M 9 5 0 "" NA12156,NA12878,NA18555,NA19129,NA19240 esv1007117 4 155297637 155297645 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564394 S 3 1 0 "" HuRef esv259503 4 155329983 155330235 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394221 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1009091 4 155330082 155330082 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566330 S 3 1 0 "" HuRef nsv291135 4 155330084 155330084 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309713 M 24 "" esv988451 4 155330141 155330141 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566734 S 3 1 0 "" HuRef esv1339182 4 155330142 155330142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085988 S 2 1 0 "" HuRef nsv289607 4 155330143 155330143 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308185 M 24 "" nsv880812 4 155477159 155535572 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598982 S 6533 1 0 DCHS2 IS40839 esv28468 4 155487121 155489863 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17136 S 451 0 1 DCHS2 NA18508 nsv461692 4 155488838 155526876 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538050 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DCHS2 HGDP00372 nsv510924 4 155488872 155521966 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621575 S 4 0 0 DCHS2 NA15510 nsv507205 4 155492578 155498578 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621766,nssv617648,nssv622910 M 4 3 0 DCHS2 CHM,NA10860,NA18994 nsv507206 4 155509897 155515897 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617649,nssv622911,nssv621767 M 4 3 0 DCHS2 CHM,NA10860,NA18994 nsv830119 4 155629056 155665598 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444032 S 95 1 0 DCHS2 nsv822780 4 155630200 155633628 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432799 S 31 1 0 DCHS2 NA18972 nsv822781 4 155630433 155631985 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429760 S 31 1 0 DCHS2 AK14 nsv292497 4 155636976 155639745 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311075 M 24 "" dgv5783n71 4 155693672 155708192 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880635,nsv881261 M 6533 0 3 FGB SP52708,SP55851,SP56861 nsv880875 4 155693672 155709781 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505277 S 6533 1 0 FGB SP53347 dgv5784n71 4 155700739 155706593 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880718,nsv880264 M 6533 2 0 FGB SP52077,SP57292 esv268285 4 155726006 155726309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510634,essv2496440,essv2507164 M 157 3 0 Samples from several populations that are part of the HapMap project. FGA NA18501,NA18510,NA18870 nsv881601 4 155730167 155752990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504684 S 6533 0 1 FGA,FGG SP52708 nsv289630 4 155786927 155786927 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308208 M 24 "" esv2651946 4 155789318 155790772 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241135 S 1 0 1 "" NA18507 nsv4560 4 155813575 155858083 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8016 S 9 0 1 "" NA12156 nsv290819 4 155827797 155835822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309397 M 24 "" nsv822782 4 155837496 155838386 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423361 S 31 0 1 "" NA18999 nsv437444 4 155852056 155859465 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467325 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv2376916 4 155879966 155880352 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511950 S 1 0 1 "" NA18507 nsv820098 4 155943070 155946374 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419524 S 2 1 0 RBM46 AK1 nsv470084 4 155982418 156005837 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546381 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00553 esv1008875 4 155990881 155990882 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567744 S 3 1 0 "" HuRef nsv461693 4 155991081 156012414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538051 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00553 esv1993857 4 156022291 156022727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4817729 S 1 0 1 "" NA18507 nsv471726 4 156022434 156022537 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646007 M 1.491 95 "" esv2421583 4 156022455 156022528 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5049346,essv5058707,essv5130371,essv5092407,essv5154320,essv5059145,essv5017189,essv5025460,essv5119819,essv5089825,essv5068378,essv5139645,essv5083439,essv5117238,essv5015515,essv5007339,essv5045499,essv5084873,essv5130617,essv5013866,essv5003175,essv5128740,essv5007483,essv5090958,essv5027660,essv5160278,essv5026928,essv5043764,essv5083415,essv5154730,essv5091514,essv5015178,essv5072092,essv5045613,essv5112931,essv5022437,essv5149028,essv5122010,essv5130798,essv5150105,essv5134513,essv5025301,essv5085868,essv5024539,essv5076613,essv5109713,essv5118798,essv5138278,essv5029833,essv5042360,essv5154496,essv5145929,essv5031262,essv5083947,essv5130926,essv5004418,essv5015787,essv5095910,essv5075198,essv5097354,essv5017829,essv5102137,essv5104622,essv5149509,essv5024488,essv5120309,essv5101338,essv5081563,essv5048176,essv5065678,essv5077883,essv5050703,essv5148147,essv5112000,essv5119724,essv5154222,essv5036933,essv5036104,essv5119918,essv5102003,essv5017907,essv5103321,essv5082573,essv5077012,essv5052777,essv5123927,essv5097092,essv5117296,essv5021796,essv5096233,essv5085257,essv5018250,essv5042326,essv5117468,essv5053201,essv5021489,essv5093517,essv5077446,essv5071975,essv5056593,essv5098544,essv5127087,essv5051180,essv5123155,essv5014240,essv5095602,essv5158623,essv5119764,essv5016335,essv5138390,essv5101590,essv5065230,essv5097652,essv5072138,essv5019177,essv5016973,essv5100676,essv5159965,essv5068567,essv5104781,essv5038295,essv5124093,essv5096692,essv5009420,essv5086245,essv5119746,essv5024120,essv5058153,essv5056313,essv5133564,essv5053956,essv5016293,essv5132813,essv5040702,essv5010152,essv5079169,essv5103616,essv5161089,essv5107207,essv5060704,essv5041105,essv5041490,essv5147104,essv5008027,essv5032000,essv5089188,essv5034709,essv5054629,essv5028048,essv5149330,essv5151357,essv5099271,essv5048404,essv5117809,essv5059839,essv5078286,essv5083042,essv5116735,essv5153101,essv5149096,essv5094316,essv5119705,essv5060653,essv5113096,essv5102793,essv5007476,essv5004332,essv5156336,essv5071304,essv5046402,essv5155928,essv5008095,essv5001920,essv5084050,essv5065818,essv5026584,essv5159447,essv5100300,essv5014268,essv5094085,essv5100927,essv5037431,essv5118858,essv5078388,essv5072201,essv5003153,essv5122522,essv5021116,essv5145320,essv5085283,essv5105415,essv5048182,essv5020082,essv5062736,essv5089214,essv5152501,essv5085934,essv5067110,essv5040970,essv5131133,essv5111984,essv5080358,essv5112712,essv5158913,essv5076545,essv5143900,essv5088320,essv5014994,essv5149823,essv5092251,essv5059458,essv5052511,essv5157656,essv5122905,essv5139035,essv5010174,essv5079862,essv5154912,essv5136216,essv5071133,essv5068575,essv5012032,essv5134986,essv5097858,essv5035067,essv5143076,essv5066581,essv5080952,essv5003988,essv5100373,essv5041082,essv5139803,essv5129661,essv5065334,essv5031459,essv5014598,essv5111619,essv5099307,essv5038853,essv5055147,essv5147324,essv5040587,essv5101339,essv5092201,essv5029417,essv5122633,essv5064830,essv5126358,essv5091232,essv5069869,essv5150087,essv5096917,essv5088362,essv5158219,essv5159863,essv5049758,essv5049464,essv5003491,essv5124787,essv5015900,essv5014504,essv5054407,essv5094943,essv5031319,essv5088908,essv5075726,essv5095132,essv5076350,essv5114293,essv5136312,essv5012438,essv5132515,essv5049349,essv5088957,essv5127801,essv5140844,essv5014917,essv5004456,essv5136964,essv5011692,essv5017966,essv5149813,essv5022594,essv5108363,essv5058064,essv5025414,essv5088256,essv5097201,essv5067265,essv5024389,essv5137638,essv5038275,essv5059317,essv5089281,essv5123427,essv5011123,essv5156536,essv5151198,essv5007872,essv5140903,essv5004945,essv5094228,essv5069152,essv5158218,essv5095121,essv5107962,essv5137007,essv5081503,essv5023641,essv5103416,essv5004464,essv5145178,essv5054686,essv5049558,essv5017843,essv5092701,essv5031428,essv5104861,essv5104026,essv5053569,essv5120676,essv5013528,essv5157110,essv5071787,essv5157795,essv5101756,essv5106655,essv5089073,essv5156392,essv5080327,essv5107582,essv5102858,essv5036894,essv5152978,essv5056855,essv5116294,essv5040855,essv5060918,essv5043791,essv5080997,essv5109387,essv5097077,essv5144496,essv5055364,essv5075529,essv5134358,essv5146240,essv5121752,essv5076029,essv5006031,essv5075718,essv5060574,essv5048086,essv5108981,essv5118076,essv5119617,essv5034058,essv5147401,essv5088886,essv5068825,essv5079151,essv5030266,essv5077487,essv5086497,essv5072097,essv5063703,essv5066358,essv5098602,essv5150123,essv5080282,essv5103450,essv5076027,essv5088650,essv5026881,essv5120466,essv5074296,essv5030840,essv5089131,essv5085031,essv5066959,essv5146385,essv5027569,essv5139720,essv5098821,essv5067292,essv5058066,essv5032137,essv5150529,essv5146794,essv5104595,essv5160379,essv5040309,essv5029944,essv5045461,essv5075722,essv5135756,essv5107206,essv5098092,essv5033083,essv5056325,essv5070981,essv5063001,essv5056857,essv5108047,essv5007143,essv5004347,essv5126212,essv5121250,essv5159481,essv5132130,essv5069983,essv5024630,essv5121360,essv5036127,essv5071156,essv5056024,essv5037343,essv5005291,essv5159488,essv5039667,essv5072448,essv5046407,essv5052766,essv5150075,essv5054526,essv5073712,essv5046952,essv5054440,essv5075424,essv5084002,essv5006458,essv5143533,essv5089113,essv5037781,essv5131075,essv5009867,essv5100164,essv5067932,essv5104787,essv5135661,essv5102974,essv5126248,essv5075357,essv5110488,essv5061995,essv5098412,essv5153187,essv5083245,essv5071620,essv5129288,essv5080929,essv5118306,essv5098872,essv5048575,essv5020457,essv5038939,essv5081339,essv5027253,essv5155167,essv5036281,essv5018441,essv5057709,essv5142918,essv5112471,essv5056758,essv5017405,essv5156497,essv5012586,essv5023669,essv5108203,essv5091307,essv5120860,essv5110039,essv5076018,essv5076009,essv5126806,essv5160829,essv5120944,essv5018807,essv5004848,essv5124504,essv5030695,essv5146631,essv5070690,essv5061789,essv5140374,essv5132753,essv5153327,essv5078159,essv5069123,essv5159624,essv5030294,essv5038032,essv5121894,essv5018401,essv5108555,essv5072255,essv5022955,essv5148954,essv5081186,essv5008793,essv5158586,essv5017736,essv5002481,essv5015531,essv5015898,essv5074765,essv5042023,essv5067643,essv5039253,essv5044446,essv5078314,essv5035055,essv5145683,essv5116317,essv5066134,essv5153827,essv5107750,essv5035440,essv5008327,essv5041941,essv5026212,essv5103563,essv5049130,essv5100044,essv5145238,essv5143472,essv5070150,essv5085317,essv5008355,essv5143119,essv5005629,essv5062018,essv5060134,essv5088887,essv5126073,essv5108871,essv5116178,essv5084011,essv5126702,essv5080159,essv5065456,essv5040977,essv5143869,essv5160997,essv5042717,essv5028288,essv5030148,essv5124549,essv5040726,essv5093266,essv5118971,essv5128998,essv5118670,essv5096263,essv5055409,essv5041365,essv5025483,essv5110447,essv5084500,essv5143255,essv5079924,essv5101713,essv5042510,essv5051963,essv5121041,essv5090732,essv5024130,essv5012097,essv5133644,essv5057922,essv5113722,essv5053806,essv5044484,essv5153067,essv5160162,essv5016139,essv5028366,essv5117218,essv5087093,essv5116339,essv5118153,essv5075337,essv5039162,essv5091547,essv5020492,essv5022658,essv5070038,essv5070697,essv5003303,essv5148813,essv5108544,essv5085274,essv5034357,essv5048233,essv5092632,essv5121466,essv5112334,essv5123380,essv5035515,essv5002222,essv5027743,essv5022941,essv5060929,essv5009593,essv5076175,essv5095928 M 1184 452 155 "" NA06984,NA06986,NA06991,NA06993,NA06995,NA07000,NA07022,NA07031,NA07037,NA07045,NA07051,NA07347,NA07348,NA07349,NA07435,NA10831,NA10835,NA10836,NA10837,NA10840,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10865,NA11829,NA11830,NA11831,NA11832,NA11840,NA11881,NA11882,NA11891,NA11892,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11993,NA12003,NA12006,NA12045,NA12057,NA12145,NA12146,NA12155,NA12156,NA12234,NA12249,NA12275,NA12287,NA12340,NA12341,NA12342,NA12343,NA12344,NA12375,NA12376,NA12489,NA12546,NA12707,NA12739,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12801,NA12802,NA12812,NA12817,NA12828,NA12832,NA12843,NA12872,NA12874,NA12877,NA12878,NA12892,NA17967,NA17968,NA17976,NA17981,NA17982,NA17990,NA17993,NA17998,NA17999,NA18106,NA18107,NA18108,NA18109,NA18112,NA18120,NA18122,NA18125,NA18127,NA18129,NA18132,NA18134,NA18140,NA18143,NA18146,NA18147,NA18149,NA18150,NA18152,NA18153,NA18155,NA18159,NA18161,NA18162,NA18485,NA18487,NA18488,NA18489,NA18498,NA18501,NA18505,NA18508,NA18509,NA18510,NA18516,NA18517,NA18519,NA18520,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18559,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18582,NA18594,NA18596,NA18599,NA18602,NA18603,NA18605,NA18610,NA18613,NA18614,NA18620,NA18621,NA18633,NA18635,NA18636,NA18637,NA18640,NA18642,NA18643,NA18645,NA18670,NA18674,NA18682,NA18685,NA18704,NA18745,NA18748,NA18852,NA18853,NA18854,NA18855,NA18857,NA18859,NA18862,NA18863,NA18867,NA18870,NA18871,NA18872,NA18874,NA18909,NA18911,NA18912,NA18916,NA18917,NA18924,NA18930,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18957,NA18959,NA18963,NA18964,NA18966,NA18968,NA18969,NA18970,NA18972,NA18974,NA18975,NA18976,NA18980,NA18981,NA18987,NA18991,NA18994,NA18997,NA19001,NA19002,NA19007,NA19027,NA19028,NA19044,NA19046,NA19054,NA19060,NA19063,NA19066,NA19067,NA19075,NA19077,NA19081,NA19085,NA19093,NA19096,NA19097,NA19098,NA19101,NA19102,NA19107,NA19108,NA19113,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19123,NA19128,NA19129,NA19130,NA19131,NA19138,NA19139,NA19141,NA19143,NA19149,NA19150,NA19151,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19174,NA19179,NA19181,NA19182,NA19184,NA19185,NA19186,NA19192,NA19198,NA19199,NA19203,NA19207,NA19208,NA19210,NA19211,NA19213,NA19215,NA19222,NA19224,NA19226,NA19236,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19307,NA19309,NA19315,NA19316,NA19318,NA19321,NA19324,NA19327,NA19328,NA19334,NA19350,NA19352,NA19359,NA19371,NA19375,NA19377,NA19381,NA19394,NA19397,NA19398,NA19399,NA19403,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19440,NA19444,NA19445,NA19446,NA19449,NA19451,NA19456,NA19457,NA19462,NA19467,NA19468,NA19473,NA19625,NA19650,NA19651,NA19654,NA19656,NA19661,NA19665,NA19677,NA19679,NA19680,NA19681,NA19682,NA19683,NA19685,NA19701,NA19703,NA19705,NA19708,NA19712,NA19720,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19761,NA19770,NA19772,NA19775,NA19776,NA19777,NA19778,NA19794,NA19818,NA19834,NA19914,NA19916,NA19917,NA19918,NA20126,NA20127,NA20128,NA20277,NA20284,NA20287,NA20290,NA20291,NA20292,NA20294,NA20297,NA20301,NA20302,NA20319,NA20333,NA20335,NA20336,NA20337,NA20342,NA20343,NA20344,NA20346,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20502,NA20505,NA20506,NA20510,NA20516,NA20517,NA20518,NA20520,NA20524,NA20525,NA20527,NA20535,NA20538,NA20541,NA20543,NA20544,NA20581,NA20589,NA20752,NA20755,NA20758,NA20761,NA20765,NA20768,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20778,NA20786,NA20790,NA20792,NA20795,NA20799,NA20800,NA20801,NA20806,NA20807,NA20808,NA20809,NA20812,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20849,NA20850,NA20851,NA20853,NA20859,NA20866,NA20872,NA20873,NA20879,NA20881,NA20882,NA20883,NA20887,NA20888,NA20889,NA20890,NA20892,NA20894,NA20895,NA20897,NA20899,NA20903,NA20906,NA20911,NA21088,NA21089,NA21091,NA21092,NA21094,NA21097,NA21100,NA21101,NA21102,NA21105,NA21107,NA21112,NA21117,NA21118,NA21119,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21303,NA21307,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21333,NA21339,NA21344,NA21353,NA21359,NA21367,NA21368,NA21370,NA21381,NA21386,NA21388,NA21389,NA21390,NA21399,NA21401,NA21403,NA21405,NA21408,NA21415,NA21417,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21440,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21475,NA21478,NA21485,NA21488,NA21489,NA21490,NA21493,NA21494,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21615,NA21617,NA21619,NA21636,NA21647,NA21648,NA21650,NA21682,NA21686,NA21693,NA21716,NA21717,NA21741,NA21784 nsv442924 4 156022455 156022528 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv291754 4 156022462 156022540 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310332 M 24 "" nsv471737 4 156027345 156027783 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646018 M 0.064 95 "" esv272570 4 156048963 156049283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579258 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268375 4 156048970 156049263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494803,essv2503272,essv2505907,essv2509342,essv2501239,essv2512111,essv2498091 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18542,NA18861,NA18909,NA19093,NA19238,NA19240 nsv830120 4 156058550 156230075 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444033 S 95 1 0 "" nsv291939 4 156096058 156096058 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310517 M 24 "" esv267682 4 156120958 156121043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513898 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv526876 4 156275015 156282205 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703234 S 2026 1 0 "" dgv5785n71 4 156293524 156457820 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881670,nsv880371 M 6533 0 3 NPY2R IS35993,IS41832,IS41889 nsv881190 4 156301268 156409403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601105,nssv1600288 M 6533 0 2 NPY2R IS41867,IS41971 nsv518026 4 156306635 156311091 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695436 S 2026 1 0 "" nsv880309 4 156334738 156392665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568431 S 6533 0 1 NPY2R IS31285 dgv5786n71 4 156372896 156481117 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880888,nsv881007 M 6533 0 5 "" IS34996,MS11105,MS19277,MS21536,MS21717 nsv517632 4 156379760 156436176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695967,nssv692193,nssv652603,nssv662577,nssv673227,nssv656252,nssv675674,nssv683524,nssv671108,nssv677965,nssv658443,nssv656734,nssv688748 M 2026 0 13 "" nsv881641 4 156381499 156512908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578378 S 6533 0 1 MAP9 IS34768 nsv4561 4 156386799 156419968 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2489 S 9 1 0 "" NA18555 nsv519318 4 156457820 156466387 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696788 S 2026 0 1 "" esv269121 4 156463156 156463261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496735,essv2510637,essv2509845,essv2501437,essv2501737,essv2498061 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18508,NA19093,NA19239,NA19240 esv272327 4 156463176 156463500 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584799,essv2583486 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv822783 4 156468586 156469129 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438782 S 31 0 1 "" NA18973 esv2619911 4 156489742 156490091 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189223 S 1 1 0 MAP9 NA18507 nsv512839 4 156489838 156490086 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625477 S 1 1 0 MAP9 1 nsv819615 4 156495704 156496301 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419021 S 2 0 1 MAP9 AK1 nsv819084 4 156500492 156500919 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418949 S 2 0 1 MAP9 AK1 nsv881593 4 156503856 156519490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504032 S 6533 0 1 MAP9 SP52165 nsv291636 4 156518639 156518639 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310214 M 24 "" nsv822784 4 156590462 156595034 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423362 S 31 0 1 "" NA18999 nsv4562 4 156609920 156654409 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4674 S 9 0 1 "" NA19129 nsv289443 4 156654714 156657591 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308021 M 24 "" nsv519421 4 156657533 156692216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694328 S 2026 0 1 "" esv1944153 4 156694894 156695241 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549464 S 1 0 1 "" NA18507 esv1517161 4 156695106 156695201 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774136 S 2 0 1 "" HuRef esv995379 4 156713001 156713001 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570419 S 3 1 0 "" HuRef esv1775865 4 156713002 156713002 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271617 S 2 1 0 "" HuRef nsv292440 4 156713003 156713003 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311018 M 24 "" nsv437445 4 156803847 156834404 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467326 S 60 0 1 Samples from several populations that are part of the HapMap project. GUCY1A3 NA19161 esv23465 4 156813655 156817732 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16400 S 451 0 3 GUCY1A3 NA18505,NA18511,NA19147 nsv442925 4 156813718 156817445 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GUCY1A3 esv2421932 4 156813718 156817531 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5154779,essv5042901,essv5119528,essv5073794,essv5055578,essv5139828,essv5041828,essv5018045,essv5095309,essv5033700,essv5012118,essv5124057,essv5087767,essv5068925,essv5111075,essv5136729,essv5152945,essv5078208,essv5085962,essv5005774,essv5139089,essv5109538,essv5127376,essv5088177,essv5032623,essv5015809,essv5115550,essv5120582,essv5078977,essv5115019,essv5039452,essv5157507,essv5076334,essv5097387,essv5125114,essv5097071,essv5125192,essv5059281,essv5024714,essv5157700,essv5110080 M 1184 0 41 GUCY1A3 NA18499,NA18505,NA18511,NA18910,NA18924,NA18925,NA18966,NA19027,NA19041,NA19138,NA19147,NA19148,NA19150,NA19151,NA19160,NA19161,NA19181,NA19192,NA19235,NA19236,NA19239,NA19248,NA19249,NA19309,NA19310,NA19319,NA19350,NA19372,NA19397,NA19404,NA19428,NA19436,NA19452,NA19455,NA19468,NA19700,NA19702,NA20290,NA21402,NA21491,NA21768 nsv514260 4 156813840 156817248 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627701 S 1414 0 1 GUCY1A3 esv2514554 4 156817041 156818581 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266322 S 1 0 1 GUCY1A3 NA18507 nsv519870 4 156817531 156830753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697094 S 2026 0 1 GUCY1A3 nsv509940 4 156826222 156832222 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618190 S 4 0 1 GUCY1A3 CHM dgv1699e1 4 156826356 156830290 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1236,essv3628 M 271 0 0 GUCY1A3 NA18966 esv275314 4 156832203 156833169 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585383 S 1250 0 1 GUCY1A3 nsv4563 4 156847077 156879839 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7126 S 9 1 0 GUCY1A3 NA12156 esv21691 4 156893285 156898314 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20773 S 451 0 3 "" NA18511,NA19114,NA19257 nsv517652 4 156894819 156897042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663492,nssv656289,nssv692715,nssv668458,nssv656497,nssv665500,nssv677363,nssv673209,nssv652670,nssv693503,nssv685698,nssv666793,nssv685849,nssv682300,nssv666949,nssv691809,nssv684762,nssv691919,nssv652779,nssv654504,nssv680520,nssv654410,nssv691852,nssv673193,nssv654328,nssv664321,nssv662772,nssv678079,nssv658888,nssv676997 M 2026 0 30 "" dgv5787n71 4 156902731 156965365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880628,nsv880703,nsv880724,nsv880273 M 6533 0 32 GUCY1B3 IS30432,IS30562,IS30635,IS30923,IS30976,IS31137,IS31225,IS31330,IS31401,IS31651,IS31758,IS32615,IS34489,IS35181,IS35236,IS36103,IS36219,IS36722,IS36787,IS37065,IS37393,IS38575,IS39081,IS39716,IS39923,IS41043,MS10169,MS10802,MS12827,MS13727,MS18847,SP54030 nsv818286 4 156932807 156954889 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417427 S 112 1 0 GUCY1B3 NA12234 nsv521382 4 156939747 156940190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697991 S 2026 0 1 GUCY1B3 nsv881267 4 156961308 156991918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516916 S 6533 1 0 ACCN5 SP56975 esv2385011 4 156977600 156977985 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816224 S 1 0 1 ACCN5 NA18507 nsv830121 4 156990605 157142916 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444034 S 95 1 0 ACCN5,CTSO,TDO2 esv274871 4 157076083 157081799 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585979 S 1250 0 1 CTSO nsv4564 4 157085141 157111243 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv422,nssv11093,nssv9649,nssv2490,nssv7127 M 9 5 0 CTSO NA12156,NA15510,NA18507,NA18555,NA19240 nsv262 4 157086911 157110936 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv262 S 1 1 0 CTSO NA15510 esv999516 4 157091034 157111178 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563755 S 3 1 0 CTSO HuRef nsv437447 4 157093773 157104619 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467328 S 60 0 1 Samples from several populations that are part of the HapMap project. CTSO NA18503 nsv510893 4 157095811 157103382 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624293,nssv622367 M 4 0 0 "" NA10860,NA18994 nsv10590 4 157106742 157110511 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13737 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv4566 4 157115383 157159720 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2491 S 9 0 1 "" NA18555 nsv293647 4 157154547 157154639 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312225 M 24 "" esv27532 4 157167240 157193416 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21387,esv17925,esv19849,esv16737 M 451 7 2 "" NA07037,NA12004,NA12239,NA12776,NA18505,NA18511,NA19108,NA19190,NA19257 nsv10591 4 157178253 157193686 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11831,nssv12272 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA12872 nsv515636 4 157183142 157186835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665337,nssv664186,nssv693998,nssv684627,nssv655613,nssv672032,nssv665954,nssv655188 M 2026 0 8 "" nsv437943 4 157183142 157187345 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468640 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA07000 esv2421378 4 157183142 157194147 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064266,essv5101010,essv5055787,essv5057600,essv5151928,essv5112459,essv5160081,essv5030583,essv5031873,essv5127556,essv5025338,essv5072476,essv5035942,essv5013777,essv5046321,essv5011158,essv5087737,essv5027621,essv5128045,essv5029800,essv5043856,essv5152461,essv5157286,essv5035293,essv5152641,essv5133227,essv5058204,essv5115408,essv5142001,essv5066188,essv5112133,essv5051885,essv5131023,essv5139934 M 1184 0 34 "" NA06986,NA06997,NA07000,NA07029,NA07037,NA10837,NA11893,NA12272,NA12766,NA12776,NA12801,NA12812,NA12872,NA18161,NA18602,NA18610,NA18647,NA19780,NA19781,NA20851,NA20854,NA20872,NA20875,NA20899,NA20901,NA21098,NA21101,NA21108,NA21109,NA21363,NA21578,NA21615,NA21717,NA21718 nsv514261 4 157188128 157192688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627702 S 1414 0 1 "" nsv441923 4 157188133 157192659 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv988997 4 157221378 157222322 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563455 S 3 0 1 "" HuRef esv4482 4 157221434 157221880 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26923 S 1 0 1 Single Asian sample YH "" YH nsv290852 4 157221483 157221793 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309430 M 24 "" esv1040021 4 157221496 157221807 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220995 S 2 0 1 "" HuRef esv9036 4 157221497 157221794 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31477 S 1 0 1 "" SJK esv993905 4 157233563 157233568 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567550 S 3 1 0 "" HuRef nsv289520 4 157233564 157233564 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308098 M 24 "" nsv292241 4 157233568 157233568 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310819 M 24 "" nsv880350 4 157254092 157309055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581977 S 6533 0 1 "" IS35771 nsv881373 4 157328717 157370485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585464 S 6533 0 1 "" IS37467 nsv4567 4 157342009 157375269 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4792 S 9 1 0 "" NA19129 esv1628729 4 157465727 157465792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733266 S 2 0 1 "" HuRef esv1479456 4 157466024 157466024 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590458 S 2 1 0 "" HuRef nsv470085 4 157476869 157544838 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546382 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00638 esv2597698 4 157504573 157506200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182403 S 1 0 1 "" NA18507 nsv517773 4 157524048 157536670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691681,nssv682384,nssv660342,nssv663583,nssv665338,nssv673831,nssv664615,nssv663326,nssv673093,nssv655269,nssv665296,nssv668884,nssv676784,nssv681702,nssv674724,nssv654229,nssv660232,nssv657723,nssv668413,nssv667663,nssv661498,nssv681651,nssv672451,nssv674006,nssv687370,nssv656808,nssv653792,nssv669346,nssv652078,nssv684837,nssv690554,nssv679957,nssv673928,nssv653153,nssv666302,nssv667642,nssv669976,nssv675528,nssv663428,nssv654830,nssv651720,nssv670761,nssv664690,nssv689046,nssv657764 M 2026 0 45 "" nsv471722 4 157524670 157526497 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646003 M 0.043 95 "" esv2421784 4 157524725 157526230 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5147694,essv5039814,essv5129194,essv5139242,essv5139932,essv5159530,essv5160176,essv5111169,essv5111496,essv5136939,essv5110887,essv5030578,essv5148468,essv5104171,essv5001911,essv5060121,essv5115956,essv5108598 M 1184 0 18 "" NA11840,NA11919,NA12145,NA12739,NA12748,NA12749,NA12761,NA19663,NA19665,NA19985,NA20759,NA21311,NA21353,NA21388,NA21491,NA21509,NA21526,NA21634 esv27675 4 157524751 157526398 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15397 S 451 0 1 "" NA12749 nsv293689 4 157578795 157579174 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312267 M 24 "" esv2456097 4 157624945 157633520 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247133 S 1 0 1 "" NA18507 esv26611 4 157625507 157641433 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18134 S 451 1 0 "" NA12004 esv2650247 4 157626353 157632634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382365 S 1 0 1 "" NA18507 esv2422056 4 157626456 157629185 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5107654,essv5046070,essv5109580,essv5004907,essv5160774,essv5081614,essv5048989,essv5143411,essv5134772,essv5131993,essv5085689,essv5084792,essv5031009,essv5094305,essv5070197,essv5154481,essv5052806,essv5044670,essv5138963,essv5055860,essv5087740,essv5052540 M 1184 0 22 "" NA18506,NA18507,NA18924,NA19028,NA19119,NA19160,NA19161,NA19185,NA19236,NA19256,NA19317,NA19375,NA19380,NA19381,NA19382,NA19917,NA20541,NA21382,NA21383,NA21387,NA21389,NA21390 esv2024900 4 157626540 157632084 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926024 S 1 0 1 "" NA18507 nsv881033 4 157664151 157705985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538151 S 6533 0 1 "" MS13498 esv271303 4 157667380 157667489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505081,essv2507778,essv2504112,essv2494523,essv2497835,essv2510084,essv2507468,essv2509542,essv2513098 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11995,NA12751,NA18505,NA18550,NA18555,NA18593,NA18638,NA19129 nsv525952 4 157704091 157709356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702159 S 2026 0 1 "" esv2570885 4 157728214 157729775 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313181 S 1 0 1 "" NA18507 nsv516423 4 157786830 157793485 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662970,nssv700143,nssv694102,nssv668279,nssv679880,nssv681131,nssv656863 M 2026 1 6 "" esv271345 4 157791400 157791485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519254,essv2513757 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894 esv259456 4 157801049 157801391 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394212,essv2393867,essv2393815,essv2393761,essv2394060,essv2394378 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259928 4 157801054 157801396 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400188,essv2400044,essv2394742,essv2398579,essv2399078,essv2400313,essv2398478,essv2395280,essv2401126,essv2400905,essv2398895,essv2396243,essv2400558,essv2397556,essv2399975,essv2396660,essv2398655,essv2400751,essv2395403,essv2397973,essv2398274,essv2399167,essv2399705,essv2397326,essv2401037,essv2396928,essv2395234,essv2395567,essv2397670,essv2397795,essv2399239,essv2394997,essv2396464,essv2396137,essv2396632,essv2396067,essv2400716,essv2394954,essv2400945,essv2396324,essv2399887,essv2398530,essv2395498,essv2400851,essv2397430,essv2399592,essv2397172,essv2399856,essv2398815,essv2400417,essv2398967,essv2399005,essv2399125,essv2396834,essv2399450,essv2400110,essv2397897,essv2395315,essv2394877,essv2394446,essv2397492,essv2395469,essv2398131,essv2397142,essv2400831,essv2397734,essv2399653,essv2394575,essv2397004,essv2397398,essv2398769,essv2398369,essv2400990,essv2399304,essv2395221,essv2394841,essv2399769,essv2399541,essv2396423,essv2397987,essv2399699,essv2397233,essv2395990,essv2397045,essv2400517 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA10847,NA10851,NA11881,NA11894,NA11918,NA11931,NA11993,NA11995,NA12006,NA12043,NA12044,NA12156,NA12414,NA12489,NA12717,NA12749,NA12751,NA12763,NA12776,NA12828,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18582,NA18592,NA18603,NA18605,NA18609,NA18638,NA18858,NA18861,NA18907,NA18916,NA18942,NA18943,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19210,NA19225,NA19238,NA19239,NA19240 esv1008876 4 157801148 157801148 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567990 S 3 1 0 "" HuRef nsv830122 4 157836348 158033295 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444035 S 95 1 0 PDGFC nsv4568 4 157850561 157885844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv423 S 9 1 0 "" NA19240 esv25693 4 157899944 157900894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18707 S 451 0 6 "" NA11993,NA18508,NA18916,NA19114,NA19147,NA19225 nsv820956 4 157899944 157900894 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420449 S 1 0 1 "" NA10851 esv2591391 4 158035791 158037216 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176668 S 1 0 1 PDGFC NA18507 esv2418975 4 158196773 158197255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859971 S 1 0 1 "" NA18507 esv4546 4 158196928 158197113 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26987 S 1 0 1 Single Asian sample YH "" YH esv1155338 4 158196975 158197069 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198635 S 2 0 1 "" HuRef nsv291821 4 158196981 158197074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310399 M 24 "" nsv880748 4 158328046 158518786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564859 S 6533 0 1 GRIA2 IS30311 nsv830123 4 158354779 158502705 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444036 S 95 1 0 GRIA2 dgv1700e1 4 158371337 158601738 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9655,esv725 M 271 0 0 GRIA2 NA18913 esv1631445 4 158389183 158389183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801249 S 2 1 0 GRIA2 HuRef nsv293530 4 158389195 158389195 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312108 M 24 GRIA2 essv14215 4 158403546 158564742 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GRIA2 NA18913 nsv881583 4 158473429 158537211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518792 S 6533 0 1 GRIA2 SP58155 nsv881114 4 158484072 158712424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594841 S 6533 0 1 GRIA2 IS40039 dgv5788n71 4 158490178 158611244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881323,nsv880378,nsv880674 M 6533 0 4 GRIA2 IS32166,IS33605,IS39011,IS39666 nsv10592 4 158541833 158549715 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13731,nssv12316 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18552,NA18860 nsv881660 4 158569433 158635950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579515 S 6533 0 1 "" IS35127 nsv4569 4 158631330 158666290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv424 S 9 1 0 "" NA19240 esv27619 4 158650019 158650826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16006 S 451 0 1 "" NA11931 nsv461695 4 158759825 158783730 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538052 S 1557 0 1 "" NINDS_103 dgv5789n71 4 158759825 158796151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880461,nsv881105,nsv880680 M 6533 0 3 "" IS32167,SP55021,SP57469 nsv470086 4 158769691 158798516 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546383 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01060 nsv437448 4 158769769 158816941 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467329 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 esv1368588 4 158777500 158777600 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741561 S 2 0 1 "" HuRef esv274496 4 158801654 158801963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584007,essv2583310 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv520246 4 158854219 158860132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680920,nssv662084,nssv684575 M 2026 0 3 "" nsv517103 4 158947189 158950469 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665365,nssv668214,nssv664762,nssv673907,nssv653037,nssv661943,nssv652780,nssv688890,nssv679599,nssv666656,nssv666794,nssv654293,nssv683145,nssv668054,nssv681102,nssv685736,nssv661914,nssv666353,nssv653793,nssv691031,nssv661026,nssv680354,nssv681840,nssv675608,nssv653455,nssv671478,nssv693914,nssv689272,nssv679054,nssv673973,nssv692716,nssv663133,nssv692496,nssv658074 M 2026 0 34 "" nsv437449 4 158947189 158952026 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467330 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 esv22844 4 158947736 158951356 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9809 S 451 0 2 "" NA18505,NA18517 nsv437450 4 158948002 158953793 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467331 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 esv2421450 4 158948887 158950824 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5113040,essv5041853,essv5137819,essv5052148,essv5059350,essv5082173,essv5052154,essv5110011,essv5068861,essv5019200,essv5089359,essv5156145,essv5028991,essv5065367,essv5095486,essv5106458,essv5155097,essv5085804,essv5008325,essv5121315,essv5145891,essv5098131,essv5112724,essv5124785,essv5141708,essv5087196,essv5131970,essv5087519,essv5039131,essv5130580,essv5012038,essv5076693,essv5072414,essv5067309,essv5050880,essv5035682,essv5082425,essv5154979,essv5061651,essv5102958,essv5110074,essv5102314,essv5018507 M 1184 0 43 "" NA18504,NA18505,NA18517,NA19044,NA19197,NA19201,NA19202,NA19204,NA19213,NA19215,NA19222,NA19223,NA19226,NA19247,NA19318,NA19352,NA19359,NA19375,NA19377,NA19383,NA19428,NA19448,NA19469,NA19703,NA19712,NA20127,NA20128,NA20334,NA20335,NA20336,NA20337,NA20349,NA20350,NA20357,NA21367,NA21368,NA21378,NA21421,NA21434,NA21573,NA21689,NA21693,NA21723 nsv520186 4 158949009 158960909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697269 S 2026 0 1 "" nsv442926 4 158949012 158950828 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514262 4 158949424 158950624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627704 S 1414 0 1 "" nsv881288 4 159111183 159247530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564587 S 6533 0 1 "" IS30244 nsv509022 4 159120246 159154447 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623420 S 4 1 0 "" NA18994 esv2531254 4 159122894 159123697 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276925 S 1 1 0 "" NA18507 nsv512840 4 159124651 159124841 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625478 S 1 1 0 "" 1 esv271036 4 159126699 159126784 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514705,essv2519334,essv2518689,essv2515465,essv2515060,essv2515644,essv2516155,essv2517198 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA12045,NA12249,NA12812,NA12815,NA12873,NA18970 nsv880293 4 159231815 159268470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509456 S 6533 0 1 FAM198B SP54792 esv1208102 4 159246758 159246758 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594943 S 2 1 0 "" HuRef nsv292961 4 159246828 159247941 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311539 M 24 "" esv272057 4 159277871 159278190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493176,essv2509705,essv2506485,essv2499026,essv2498664,essv2497541 M 157 6 0 Samples from several populations that are part of the HapMap project. FAM198B NA18504,NA18508,NA19108,NA19114,NA19138,NA19147 esv2063163 4 159349026 159349455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520124 S 1 0 1 "" NA18507 esv2512768 4 159511391 159512867 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268273 S 1 0 1 "" NA18507 nsv880895 4 159586822 159673729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593269 S 6533 1 0 RXFP1 IS39391 nsv830124 4 159659267 159783789 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444037 S 95 1 0 RXFP1 nsv830125 4 159831765 159988962 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444039,nssv1444038 M 95 2 0 ETFDH,FNIP2,PPID esv2084403 4 159880597 159881023 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955160 S 1 0 1 "" NA18507 esv1463864 4 159887086 159887086 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800219 S 2 1 0 "" HuRef nsv830127 4 159892265 160088909 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444041 S 95 0 1 C4orf45,FNIP2 nsv4570 4 159907714 159925940 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8017 S 9 0 1 FNIP2 NA12156 esv23058 4 159909435 159910315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18229 S 451 0 1 FNIP2 NA07045 esv2607605 4 159972527 159973949 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373161 S 1 0 1 FNIP2 NA18507 nsv830128 4 159993061 160190193 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444045,nssv1444044,nssv1444043,nssv1444042,nssv1444046,nssv1444048,nssv1444047,nssv1444049 M 95 8 0 C4orf45,FNIP2 esv22076 4 160019454 160020171 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12523 S 451 0 3 FNIP2 NA18508,NA18907,NA19099 nsv4571 4 160085366 160130069 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8018 S 9 0 1 C4orf45 NA12156 dgv902n67 4 160189221 160189705 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822785,nsv822787 M 31 3 0 "" AK4,NA18582,NA18999 esv2557131 4 160234443 160235856 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345849 S 1 0 1 "" NA18507 esv1160305 4 160235337 160235469 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100081 S 2 0 1 "" HuRef esv29165 4 160242087 160245055 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20431 S 451 0 1 "" NA07045 nsv4572 4 160249459 160283063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8019 S 9 1 0 MIR3688-1,MIR3688-2 NA12156 nsv830129 4 160281144 160490210 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444050 S 95 1 0 RAPGEF2 esv2338265 4 160290528 160290986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807416 S 1 0 1 "" NA18507 esv987723 4 160299993 160300078 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581995 S 3 0 1 "" HuRef esv1442351 4 160300123 160300209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908349 S 2 0 1 "" HuRef nsv523255 4 160593705 160607954 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698984 S 2026 1 0 "" esv1577872 4 160664335 160664784 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941233 S 2 0 1 "" HuRef esv1173594 4 160664854 160665252 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094261 S 2 0 1 "" HuRef nsv4573 4 160678529 160711518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7128 S 9 1 0 "" NA12156 esv273889 4 160693008 160693270 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580404,essv2579881,essv2580788,essv2579701 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19240 esv2059440 4 160699325 160699736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4623967 S 1 0 1 "" NA18507 esv1007948 4 160703695 160712320 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563665 S 3 0 1 "" HuRef esv995513 4 160712985 160722736 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563948 S 3 0 1 "" HuRef nsv881205 4 160735540 160847456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601106 S 6533 0 1 "" IS41971 esv2422855 4 160782245 160782314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299521 S 1 0 1 "" NA18507 esv267909 4 160845470 160845818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565788,essv2546396,essv2521264,essv2526302,essv2523001,essv2548291,essv2535178,essv2557263,essv2578847,essv2550152,essv2537140,essv2539021,essv2561659,essv2540566,essv2567641,essv2535663,essv2542063,essv2543544,essv2539419,essv2533877,essv2578200,essv2533741,essv2530121,essv2529514,essv2538568,essv2526397,essv2568619,essv2551550 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11881,NA11894,NA11918,NA11931,NA12045,NA12249,NA18501,NA18510,NA18511,NA18517,NA18519,NA18523,NA18552,NA18582,NA18608,NA18856,NA18870,NA18912,NA18916,NA18940,NA18944,NA18949,NA19093,NA19108,NA19114,NA19147,NA19257 esv271714 4 160847892 160848234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504221,essv2509659,essv2496210,essv2494966,essv2506246,essv2498570,essv2507060,essv2494074,essv2513271,essv2495534,essv2510482,essv2501735,essv2498240 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18508,NA18511,NA18520,NA18523,NA18858,NA18870,NA18871,NA18907,NA18916,NA19172,NA19239,NA19240 esv274368 4 160847898 160848247 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580930,essv2579666 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv4574 4 160871709 160905474 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7129 S 9 0 1 "" NA12156 esv1965144 4 160889493 160889986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790755 S 1 0 1 "" NA18507 esv5377 4 160889579 160889879 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27818 S 1 0 1 Single Asian sample YH "" YH esv1042558 4 160889673 160889787 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139220 S 2 0 1 "" HuRef nsv880358 4 160913865 161794633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563824,nssv1554378 M 6533 0 2 "" IS30082,MS20771 nsv461696 4 160927511 161054281 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538053 S 1557 1 0 "" NINDS_45 esv268208 4 160939374 160939459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518099 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv830130 4 160967693 161161130 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444052 S 95 1 0 "" esv1584418 4 161032551 161032551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880320 S 2 1 0 "" HuRef nsv4575 4 161064497 161109160 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8020 S 9 0 1 "" NA12156 esv1024169 4 161079982 161080382 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196601 S 2 0 1 "" HuRef nsv461697 4 161082717 161489921 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538054 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00972 nsv4577 4 161153655 161164542 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10425 S 9 1 0 "" NA18956 nsv522612 4 161154137 161156440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706006 S 2026 0 1 "" nsv830131 4 161159110 161347749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444053 S 95 1 0 "" esv2654307 4 161159935 161161314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233080 S 1 0 1 "" NA18507 nsv880791 4 161185173 161298795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503687 S 6533 0 1 "" SP52094 nsv881458 4 161194002 161243608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553407 S 6533 0 1 "" MS20020 nsv518898 4 161194002 161252445 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696357 S 2026 1 0 "" nsv291657 4 161194855 161195144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310235 M 24 "" nsv4578 4 161223369 161242965 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10426 S 9 0 1 "" NA18956 nsv10593 4 161232582 161239415 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12624,nssv12172,nssv12798 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18564,NA18942,NA18975 nsv822788 4 161233249 161238581 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440316,nssv1425607,nssv1435044,nssv1436573,nssv1431277,nssv1428335 M 31 0 6 "" AK18,NA18542,NA18564,NA18592,NA18942,NA18968 nsv514263 4 161234624 161235232 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627705 S 1414 0 0 "" esv268194 4 161235406 161235491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518782 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv514264 4 161235584 161238432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627706 S 1414 0 1 "" nsv880526 4 161238777 161271979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515600 S 6533 0 1 "" SP56224 dgv1701e1 4 161247575 161324293 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18801,esv1035 M 271 0 0 "" NA12248 nsv436970 4 161252445 161301822 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466851 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 esv2552795 4 161252712 161254322 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196603 S 1 0 1 "" NA18507 esv2263483 4 161253535 161254140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877654 S 1 0 1 "" NA18507 nsv4579 4 161254950 161310352 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3296 S 9 0 1 "" NA12878 dgv672n27 4 161258794 161290832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461699,nsv461698 M 1557 0 2 "" HGDP01152,NINDS_49 nsv881541 4 161258794 161298795 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594729,nssv1571770,nssv1563675,nssv1557135,nssv1591590,nssv1566515,nssv1596472,nssv1566390 M 6533 2 6 "" IS30035,IS30683,IS30764,IS32808,IS38995,IS40004,IS40524,MS22421 nsv517034 4 161258794 161315958 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677174,nssv674349,nssv658581,nssv689712,nssv663973,nssv681929,nssv674819,nssv685606,nssv658563,nssv684214,nssv681899,nssv673094,nssv653649,nssv664955,nssv651971,nssv657242,nssv704376,nssv684511,nssv689102,nssv663446,nssv658542,nssv689466,nssv676473,nssv685271,nssv679383,nssv666766,nssv689426,nssv674703,nssv652804,nssv692839,nssv697494,nssv670823,nssv660758,nssv689490,nssv671831,nssv693818,nssv664878,nssv666303,nssv669564,nssv655509,nssv689651,nssv657222,nssv685231,nssv682029,nssv661572,nssv673270,nssv688229,nssv678462,nssv674030,nssv693986,nssv669254,nssv673284,nssv673454,nssv671575,nssv665907,nssv677222,nssv663630,nssv658026 M 2026 2 56 "" nsv880668 4 161259328 161298795 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504089 S 6533 1 0 "" SP52175 esv33547 4 161266847 161291657 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98512 S 51 0 1 "" 22352 esv27711 4 161266945 161291593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20427 S 451 0 2 "" NA12776,NA12878 nsv514265 4 161268512 161291296 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627707 S 1414 0 1 "" esv2422153 4 161271979 161291569 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5030482,essv5063644,essv5035735,essv5077299,essv5035479,essv5121302,essv5033044,essv5118863,essv5040760,essv5099262,essv5127904,essv5088516,essv5130385,essv5097337,essv5096031,essv5077668,essv5007772,essv5055539,essv5012634 M 1184 0 19 "" NA10835,NA11839,NA12043,NA12248,NA12275,NA12335,NA12341,NA12766,NA12776,NA12801,NA12812,NA12878,NA12891,NA19654,NA20342,NA20509,NA20521,NA20752,NA20760 nsv881645 4 161271979 161324703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596594,nssv1564925,nssv1569409,nssv1575548 M 6533 0 4 "" IS30319,IS31576,IS33772,IS40573 nsv880319 4 161271979 161371029 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591677 S 6533 0 1 "" IS39011 nsv442928 4 161272220 161286569 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470087 4 161276892 161290832 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546384 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01403 nsv461700 4 161276893 161280525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538057 S 1557 0 1 "" 1780854496_A dgv673n27 4 161276893 161290832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461706,nsv461715,nsv461723,nsv461704,nsv461734,nsv461701,nsv461722,nsv461733,nsv461712,nsv461732,nsv461735,nsv461726,nsv461711,nsv461714,nsv461724,nsv461709,nsv461702,nsv461703,nsv461730,nsv461707,nsv461713,nsv461708,nsv461721,nsv461710,nsv461731 M 1557 0 25 "" 1780854063_A,1780854096_A,1780854401_A,1780854479_A,1780854487_A,1780862043_A,1780862085_A,1780862202_A,1780862390_A,1780862432_A,1780862546_A,1782681112_A,1782681237_A,1782681286_A,1798860186_A,1798860587_A,HGDP00519,HGDP00807,NINDS_151,NINDS_208,NINDS_26,NINDS_272,NINDS_39,NINDS_71,NINDS_92 nsv818287 4 161276893 161290832 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416153,nssv1416750,nssv1416154,nssv1416739,nssv1416059,nssv1416060 M 112 0 6 "" NA10857,NA12043,NA12801,NA12812,NA12878,NA12891 nsv818288 4 161276893 161305181 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415637,nssv1415638 M 112 0 2 "" NA10835,NA12248 dgv674n27 4 161276893 161315958 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461718,nsv461720,nsv461717,nsv461719 M 1557 0 4 "" 1780854095_A,1780854318_A,1780862399_A,HGDP01403 nsv10595 4 161278402 161280680 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12813 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07048 nsv433223 4 161279212 161291569 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463104 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv461725 4 161279212 161302628 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538082 S 1557 0 1 "" 1798860084_A nsv437944 4 161279324 161291393 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468642,nssv468643 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 dgv675n27 4 161281594 161290832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461747,nsv461742,nsv461746,nsv461744,nsv461741,nsv461739,nsv461738,nsv461745,nsv461743,nsv461736,nsv461737 M 1557 0 11 "" 1780854278_A,1780854444_A,1780862346_A,1780862437_A,1780862521_A,1782681294_A,1782681495_A,1788485588_A,HGDP00513,HGDP00860,NINDS_123 dgv1702e1 4 161282343 161324293 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25158,essv17857 M 271 0 0 "" NA10857,NA11839 dgv676n27 4 161285567 161290832 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461748,nsv461749 M 1557 0 2 "" 1780854210_A,1780862443_A nsv289499 4 161329960 161329960 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308077 M 24 "" nsv881315 4 161356534 161435655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588468 S 6533 0 1 "" IS38207 nsv881227 4 161407599 161447147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549030,nssv1562346 M 6533 0 2 "" MS18003,MS25521 nsv880922 4 161435655 161486890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551742 S 6533 0 1 "" MS18978 esv5460 4 161490823 161491275 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27901 S 1 0 0 "" SJK esv1269648 4 161491254 161491312 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3616747 S 2 0 1 "" HuRef nsv880844 4 161530598 161614321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558378 S 6533 0 1 "" MS23257 nsv880407 4 161530598 161683452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550272 S 6533 1 0 "" MS18387 nsv292841 4 161531742 161531810 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311419 M 24 "" nsv880632 4 161556548 161683452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541129 S 6533 0 1 "" MS15199 nsv521144 4 161566815 161726347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689074,nssv682911 M 2026 0 2 "" dgv1703e1 4 161589414 161771614 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv198,essv3546 M 271 0 0 "" NA18965 nsv880540 4 161621749 161731914 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543065 S 6533 1 0 "" MS16038 nsv880977 4 161643933 161879092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546110 S 6533 0 1 "" MS17114 nsv10596 4 161671430 161680004 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13724 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv822789 4 161692201 161695361 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441028 S 31 0 1 "" NA18969 nsv289457 4 161737182 161741881 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308035 M 24 "" nsv509941 4 161758914 161764914 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623964 S 4 0 1 "" NA18994 nsv508323 4 161781400 161797763 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622505 S 4 0 1 "" NA18994 esv1311044 4 161813263 161813263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853773 S 2 1 0 "" HuRef dgv5790n71 4 161816748 161881758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881482,nsv881553,nsv881086 M 6533 0 4 "" IS31070,IS31145,IS36656,IS41292 nsv880449 4 161881861 162109433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546111 S 6533 0 1 "" MS17114 nsv289704 4 161903347 161905062 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308282 M 24 "" esv270798 4 161911928 161912262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510179,essv2493453,essv2507869,essv2508172,essv2508644,essv2496039,essv2507570,essv2504966,essv2503560,essv2511492,essv2499534 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA10851,NA12763,NA18564,NA18579,NA18592,NA18603,NA18638,NA18942,NA18947 nsv4580 4 161932510 161966830 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3297 S 9 1 0 "" NA12878 dgv5791n71 4 161947543 162027754 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880729,nsv881201 M 6533 0 2 "" IS41964,MS12947 nsv519753 4 161978992 161994164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697032 S 2026 0 1 "" nsv515837 4 161984079 162004481 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693669,nssv679027,nssv669854,nssv668081,nssv666975,nssv681583,nssv685984,nssv661723,nssv660568,nssv701371,nssv697148,nssv677069,nssv684872,nssv673758,nssv664956,nssv654545,nssv671576 M 2026 1 16 "" esv2752034 4 161990845 162220845 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988766,essv6987518 M 771 1 0 "" BEC_799 dgv1704e1 4 162002872 162174605 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5844,essv2703,esv924 M 271 0 0 "" NA18524,NA18944 dgv5792n71 4 162005231 162099909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880896,nsv880302,nsv881316 M 6533 0 3 "" IS31067,IS41224,MS15199 dgv191e55 4 162014886 162156872 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34806,esv34413 M 771 2 0 "" NA18633,NA18947 dgv5793n71 4 162027754 162099909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880792,nsv881463 M 6533 0 2 "" IS41043,MS15312 dgv5794n71 4 162037658 162153932 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880399,nsv881222,nsv880351,nsv881319,nsv881596,nsv880749,nsv880484 M 6533 225 0 "" IS32893,IS33055,IS34770,IS36064,IS38011,IS40785,MS10094,MS10102,MS10115,MS10119,MS10127,MS10184,MS10227,MS10249,MS10413,MS10574,MS10615,MS10714,MS10731,MS10871,MS10910,MS10970,MS11049,MS11087,MS11220,MS11306,MS11336,MS11364,MS11481,MS11666,MS11760,MS11867,MS11971,MS12191,MS12217,MS12497,MS12624,MS12657,MS12684,MS12727,MS12905,MS12943,MS13030,MS13232,MS13455,MS14281,MS14396,MS14488,MS14513,MS14665,MS14684,MS14708,MS14719,MS14842,MS14883,MS14933,MS15022,MS15340,MS15453,MS15637,MS15714,MS15727,MS15804,MS15856,MS15867,MS15906,MS15921,MS16042,MS16048,MS16126,MS16128,MS16188,MS16211,MS16259,MS16266,MS16352,MS16693,MS16722,MS16792,MS16801,MS16824,MS16832,MS16921,MS16968,MS17223,MS17310,MS17453,MS18011,MS18028,MS18124,MS18205,MS18261,MS18288,MS18462,MS18503,MS18531,MS18533,MS18824,MS18829,MS18843,MS18853,MS18876,MS18959,MS18970,MS18976,MS19277,MS19289,MS19533,MS19571,MS19582,MS19652,MS20073,MS20152,MS20269,MS20406,MS20671,MS20812,MS21258,MS21340,MS21536,MS21820,MS21857,MS21937,MS21958,MS22008,MS22114,MS22207,MS22616,MS22999,MS23077,MS23205,MS23236,MS23237,MS23609,MS23714,MS23768,MS23949,MS24011,MS24052,MS24183,MS24360,MS24374,MS24477,MS24528,MS24587,MS24662,MS25052,MS25177,MS25181,MS25193,MS25197,MS25338,MS25447,MS25521,MS25603,MS25648,MS25699,MS25725,MS25765,MS25771,MS25782,MS25853,MS25943,MS25986,MS26128,SP50153,SP50170,SP50580,SP50627,SP50820,SP50827,SP50830,SP51067,SP51089,SP51134,SP51261,SP51345,SP51359,SP51403,SP52197,SP52353,SP52393,SP52506,SP52751,SP52886,SP53083,SP53413,SP53781,SP53838,SP54060,SP54063,SP54110,SP54117,SP54338,SP54838,SP54891,SP54921,SP54958,SP55022,SP55055,SP55093,SP55108,SP55423,SP55426,SP55526,SP56418,SP56448,SP56690,SP56797,SP56840,SP57138,SP57534,SP57659,SP57706,SP57970,SP58161,SP58202,SP58205,SP58310,SP58316,SP58355,SP58480,SP81083,SP81409,SP81414 nsv10597 4 162046940 162048337 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12849,nssv13081 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12740,NA19240 dgv5795n71 4 162050188 162099909 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880742,nsv881166 M 6533 0 10 "" IS30669,IS31044,IS33531,IS33566,IS33839,IS35244,IS39475,IS40067,MS18620,MS23670 dgv5796n71 4 162050188 162112636 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881523,nsv881588,nsv880577,nsv881128,nsv881026 M 6533 19 0 "" IS34358,MS13436,MS14986,MS15145,MS16416,MS17028,MS18742,MS20708,MS21465,MS22492,MS23626,MS23984,SP50586,SP51182,SP52863,SP57886,SP57958,SP81046,SP81172 nsv470089 4 162050188 162146977 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546385,nssv546388,nssv546389,nssv546386 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00951,HGDP01215,HGDP01221,HGDP01318 nsv818290 4 162050188 162146977 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417722 S 112 1 0 "" NA18999 dgv677n27 4 162050188 162154792 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461753,nsv461750,nsv461754,nsv461757,nsv461756,nsv461752,nsv461755 M 1557 7 0 "" HGDP00762,HGDP00774,HGDP00785,HGDP00955,HGDP01288,HGDP01308,HGDP01310 dgv5797n71 4 162057165 162138390 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881589,nsv880333,nsv880678,nsv880911,nsv881332,nsv880863 M 6533 29 0 "" IS37646,MS10121,MS10228,MS12860,MS14336,MS15479,MS15600,MS17798,MS17852,MS18748,MS19634,MS20011,MS20543,MS21218,MS23194,MS24605,MS24940,MS25451,SP50076,SP52419,SP52651,SP53401,SP54023,SP54941,SP55362,SP57673,SP81020,SP81354,SP81383 nsv516229 4 162057165 162152452 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670101,nssv670351,nssv654161,nssv664879,nssv682577,nssv657875,nssv689133,nssv687224,nssv654329,nssv674373,nssv691267,nssv693440,nssv681225,nssv691796,nssv661658,nssv663493,nssv686143,nssv662933,nssv693214,nssv677702,nssv693516,nssv658543,nssv659879,nssv655510,nssv652652,nssv673490,nssv672452,nssv656618,nssv654782,nssv694558,nssv698393,nssv679144,nssv672142,nssv659598,nssv686794,nssv665771,nssv692100,nssv681875,nssv693474,nssv687824 M 2026 7 33 "" nsv881155 4 162058162 162099909 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560404,nssv1544097,nssv1600721,nssv1569256,nssv1583886 M 6533 2 3 "" IS31554,IS36722,IS41920,MS16252,MS24471 dgv1705e1 4 162058909 162166075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv199,essv596 M 271 0 0 "" NA18947,NA18994 nsv881094 4 162075534 162099909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505482,nssv1514538 M 6533 2 0 "" SP53572,SP56012 dgv5798n71 4 162075534 162118866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881555,nsv881324,nsv880681 M 6533 7 0 "" SP50870,SP51022,SP54516,SP54792,SP55026,SP55914,SP57741 dgv5799n71 4 162075534 162151909 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880827,nsv880393,nsv880522,nsv880294,nsv881213,nsv880912 M 6533 79 0 "" SP50176,SP50520,SP50521,SP50561,SP50593,SP50637,SP50649,SP50761,SP50766,SP50850,SP50857,SP50882,SP50896,SP50954,SP50973,SP51058,SP51086,SP51109,SP51226,SP51427,SP51473,SP51494,SP52039,SP52101,SP52110,SP52147,SP52234,SP52274,SP52470,SP52493,SP52543,SP53287,SP53342,SP53964,SP54049,SP54095,SP54373,SP54383,SP54442,SP54490,SP54509,SP54591,SP54593,SP54652,SP54760,SP55021,SP55160,SP55318,SP55355,SP55539,SP55548,SP55553,SP55558,SP55565,SP55610,SP55684,SP55774,SP55868,SP55886,SP56108,SP56128,SP56385,SP56874,SP57027,SP57292,SP57379,SP57453,SP57481,SP57485,SP57553,SP57651,SP58299,SP58462,SP58557,SP80925,SP80928,SP80930,SP80986,SP81024 nsv10598 4 162078486 162151344 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12879,nssv12277,nssv12654,nssv13598,nssv13903,nssv12595,nssv12126,nssv13692,nssv13784,nssv12530,nssv12257,nssv11530,nssv11885,nssv12843,nssv13141,nssv12202,nssv14820,nssv12784,nssv14363 M 31 16 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18563,NA18853,NA18942,NA18972,NA18975,NA18980,NA19221,NA19240 esv259968 4 162080922 162151422 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395488,essv2399582,essv2399988,essv2394915,essv2396189,essv2397514,essv2394595,essv2398737 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA18570,NA18940,NA18942,NA18944,NA18947,NA18965,NA19005 dgv903n67 4 162080980 162151516 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822791,nsv822790,nsv822793,nsv822792 M 31 6 0 "" AK8,NA18570,NA18942,NA18947,NA18972,NA18999 dgv5800n71 4 162081090 162118866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881176,nsv880735,nsv881289,nsv880707 M 6533 6 0 "" MS18101,MS25284,SP50979,SP53602,SP58378,SP58389 esv2421750 4 162081090 162151102 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5134307,essv5122297,essv5015211,essv5042850,essv5043898,essv5013911,essv5081729,essv5037616,essv5161059,essv5051563,essv5106998,essv5003310,essv5046180,essv5124291,essv5063949,essv5004501,essv5098038,essv5153144,essv5006497,essv5111684,essv5128706,essv5146823,essv5134939,essv5071950,essv5080211,essv5097345,essv5050585,essv5142754,essv5019664,essv5014714,essv5120984,essv5063797,essv5041847,essv5062296,essv5122976,essv5085970,essv5024283,essv5016394,essv5096152,essv5027288,essv5070815,essv5025318,essv5020702 M 1184 43 0 "" NA17968,NA17990,NA17996,NA17998,NA18106,NA18118,NA18134,NA18151,NA18154,NA18156,NA18524,NA18529,NA18563,NA18570,NA18576,NA18599,NA18617,NA18620,NA18633,NA18639,NA18940,NA18942,NA18944,NA18947,NA18954,NA18965,NA18978,NA18991,NA18993,NA18994,NA18999,NA19005,NA19055,NA19056,NA19066,NA19067,NA19068,NA19070,NA19076,NA19081,NA19083,NA19085,NA19088 dgv678n27 4 162081090 162152452 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461759,nsv461775,nsv461777,nsv461778,nsv461772,nsv461768,nsv461766,nsv461776,nsv461770,nsv461764,nsv461760,nsv461763,nsv461765,nsv461771,nsv461761,nsv461774,nsv461767,nsv461769 M 1557 18 0 "" HGDP00747,HGDP00750,HGDP00758,HGDP00759,HGDP00773,HGDP00775,HGDP00790,HGDP00815,HGDP00951,HGDP01198,HGDP01215,HGDP01221,HGDP01246,HGDP01318,HGDP01332,HGDP01341,HGDP01355,HGDP01356 nsv4581 4 162082184 162112903 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3298 S 9 0 1 "" NA12878 dgv51n64 4 162083343 162152452 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818291,nsv818292 M 112 7 0 "" NA18529,NA18576,NA18944,NA18965,NA18978,NA18992,NA18994 nsv442929 4 162083345 162151100 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv5801n71 4 162083578 162102577 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880645,nsv881646 M 6533 2 0 "" MS18828,MS19372 dgv5802n71 4 162083578 162152452 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880763,nsv881425,nsv881038,nsv880505,nsv880690,nsv881610,nsv881131,nsv881142,nsv880663,nsv880582,nsv881661,nsv880334 M 6533 41 0 "" IS39512,MS10287,MS13157,MS13360,MS14247,MS14354,MS15514,MS16558,MS17484,MS18387,MS23472,MS23583,MS23767,MS26073,SP50535,SP50644,SP50805,SP51105,SP51242,SP51300,SP52055,SP52331,SP52455,SP52858,SP53412,SP54123,SP54162,SP54164,SP54580,SP54766,SP55348,SP56094,SP56845,SP57105,SP58432,SP58536,SP80932,SP81203,SP81240,SP81273,SP81498 dgv192e55 4 162083845 162166075 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34656,esv35170 M 771 2 0 "" NA18563,NA18999 dgv1706e1 4 162084190 162174605 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2128,essv3642,essv1676,essv3492,essv4105,essv5081,essv5897,essv7676,essv6201,essv99,essv7466,essv704,essv1987,essv2739 M 271 0 0 "" NA18529,NA18563,NA18570,NA18576,NA18620,NA18633,NA18940,NA18942,NA18965,NA18978,NA18991,NA18992,NA18999,NA19005 nsv514266 4 162085168 162150704 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627708 S 1414 0 0 "" dgv103n17 4 162089924 162109433 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436972,nsv437451,nsv436971 M 60 0 3 "" NA10855,NA12865,NA19142 nsv880883 4 162090431 162132438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559430 S 6533 1 0 "" MS23973 dgv5803n71 4 162093857 162151909 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881409,nsv880513,nsv881064,nsv881500,nsv881129,nsv881160,nsv881273 M 6533 12 0 "" MS11675,SP50035,SP52438,SP52588,SP53572,SP54220,SP55683,SP56012,SP57501,SP57983,SP81119,SP81500 dgv104n17 4 162094595 162104496 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437452,nsv437453 M 60 0 2 "" NA18860,NA19132 dgv130e180 4 162097831 162105266 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993839,esv994301 M 3 0 1 "" HuRef nsv435784 4 162097883 162104865 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466160 S 2 0 1 "" NA15510 nsv820438 4 162098405 162104479 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420450 S 1 0 1 "" NA10851 dgv904n67 4 162098405 162104498 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822794,nsv822795 M 31 0 24 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997 dgv5804n71 4 162098442 162221357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881296,nsv881545,nsv881692,nsv880708,nsv881167 M 6533 0 7 "" IS30925,IS32167,IS35181,IS39666,MS10758,MS11467,MS15199 esv23373 4 162098482 162104395 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11048 S 451 30 1 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA19099,NA19114,NA19129,NA19225,NA19240,NA19257 nsv437945 4 162098516 162104065 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468653,nssv468645,nssv468656,nssv468648,nssv468644,nssv468657,nssv468654,nssv468659,nssv468658,nssv468651,nssv468655,nssv468660,nssv468650,nssv468647,nssv468646,nssv468649 M 269 0 16 Samples from several populations that are part of the HapMap project. "" NA07019,NA12248,NA12802,NA18562,NA18577,NA18594,NA18943,NA18960,NA18971,NA18972,NA18975,NA18997,NA19131,NA19132,NA19141,NA19142 nsv820270 4 162099078 162104445 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419702 S 2 0 1 "" AK1 nsv508324 4 162099625 162110930 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619947 S 4 0 1 "" NA15510 esv33125 4 162099904 162104320 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98870,essv100883,essv98331,essv94336,essv97010,essv95607,essv99021,essv93623,essv97281,essv99796,essv93349,essv98485 M 51 12 0 "" 21606,21656,21772,21808,21817,21841,21938,21972,22075,22086,22170,22352 nsv433469 4 162099909 162103486 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463350 S 9 0 1 "" NA15510 nsv820076 4 162099909 162103486 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418866 S 2 0 1 "" AK1 nsv818293 4 162102577 162109433 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415661 S 112 0 1 "" NA19142 nsv822796 4 162116448 162127417 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423366 S 31 1 0 "" NA18999 dgv5805n71 4 162118866 162204792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880352,nsv880636,nsv881281 M 6533 0 3 "" IS31758,IS34962,MS12266 nsv461779 4 162123555 162159880 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538135 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01237 esv2752035 4 162140845 162231845 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988705,essv6986493 M 771 1 0 "" BEC_618 nsv515755 4 162159880 162233728 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669693,nssv686722,nssv655974,nssv660759,nssv688362,nssv680619,nssv670807,nssv674643,nssv662691,nssv691234,nssv664691,nssv665783,nssv688582,nssv673929,nssv683030,nssv667860,nssv689467,nssv685619,nssv659925,nssv671109,nssv683132,nssv657190,nssv682113 M 2026 23 0 "" dgv679n27 4 162164752 162223074 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461798,nsv461792,nsv461800,nsv461793,nsv461785,nsv461787,nsv461794,nsv461801,nsv461791,nsv461796,nsv461786,nsv461804,nsv461797,nsv461790,nsv461788,nsv461799,nsv461789 M 1557 17 0 "" 1780854197_A,1780854439_A,1780854445_A,1780862274_A,1780862532_A,1782681216_A,1782681237_A,1798860049_A,HGDP00511,HGDP00527,HGDP00806,HGDP00882,HGDP00893,HGDP00901,HGDP00947,NINDS_117,NINDS_155 dgv193e55 4 162165818 162228055 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752036,esv2752038,esv2752037 M 771 3 0 "" BEC_30,BEC_387,BEC_611 nsv830132 4 162167200 162311285 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444054 S 95 1 0 "" nsv470090 4 162172873 162226274 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546390 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00882 nsv10599 4 162174551 162183021 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12307,nssv12232,nssv12287,nssv13171 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA18563,NA18942,NA19240 nsv461805 4 162190213 162223074 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538155 S 1557 1 0 "" NINDS_103 nsv293196 4 162192906 162192906 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311774 M 24 "" nsv818294 4 162204792 162206792 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417863 S 112 1 0 "" NA18852 dgv680n27 4 162239613 162310205 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461807,nsv461808 M 1557 0 2 "" 1780854179_A,NINDS_180 nsv516908 4 162239613 162310205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688141,nssv705182,nssv701188,nssv654867,nssv705989,nssv680216,nssv661351 M 2026 0 7 "" nsv509942 4 162245005 162251005 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621250 S 4 0 1 "" NA15510 nsv292542 4 162249912 162249912 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311120 M 24 "" nsv461809 4 162264643 162279202 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538159 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00326 esv271702 4 162271847 162272125 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510244,essv2511214,essv2499369,essv2499459,essv2501720,essv2502852,essv2513152,essv2508563,essv2493435,essv2505043,essv2503923 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11931,NA11994,NA12044,NA12144,NA12156,NA12249,NA12717,NA12763,NA12828 esv1007135 4 162272646 162273240 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587173 S 3 1 0 "" HuRef nsv821273 4 162272646 162273240 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420451 S 1 0 1 "" NA10851 nsv822798 4 162272646 162273240 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439585,nssv1434383,nssv1438784,nssv1424167,nssv1432801,nssv1426051,nssv1425629,nssv1435046,nssv1439644,nssv1421669,nssv1430547,nssv1429008,nssv1427451 M 31 10 3 "" AK12,AK16,AK8,NA18537,NA18547,NA18570,NA18582,NA18942,NA18947,NA18968,NA18972,NA18973,NA18997 nsv461810 4 162275782 162279202 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538160 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00208 nsv4582 4 162305645 162338618 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv426 S 9 1 0 "" NA19240 nsv880285 4 162329137 162460536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579821 S 6533 0 1 "" IS35181 nsv517688 4 162373503 162378372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652843,nssv685949,nssv669018,nssv661389 M 2026 0 4 "" nsv507207 4 162400483 162406483 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622913,nssv621768,nssv617650,nssv620268 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv10600 4 162412982 162424830 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12909 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv880616 4 162413018 162469416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535890,nssv1540258 M 6533 2 0 "" MS12539,MS14764 dgv1707e1 4 162413252 162455325 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24159,esv1031,essv23700 M 271 0 0 "" NA12740,NA12751 nsv441924 4 162413794 162424561 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470091 4 162427112 162454004 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546391 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00907 nsv10601 4 162439597 162452066 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12302,nssv13797,nssv12625,nssv13201,nssv12748 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA18980,NA19132,NA19144,NA19240 nsv517717 4 162442931 162446684 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652968,nssv687225,nssv663195,nssv691193 M 2026 4 0 "" nsv4583 4 162446846 162491568 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8021 S 9 0 1 "" NA12156 nsv830133 4 162465638 162599469 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444055 S 95 1 0 FSTL5 esv2050630 4 162483007 162483474 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965286 S 1 0 1 "" NA18507 esv4362 4 162483140 162483396 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26803 S 1 0 1 Single Asian sample YH "" YH nsv519185 4 162495179 162496219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696669 S 2026 0 1 "" nsv881448 4 162501615 162581923 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600064 S 6533 1 0 FSTL5 IS41837 nsv881274 4 162537436 162644318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566999 S 6533 0 1 FSTL5 IS31041 nsv880637 4 162537436 163139413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579822 S 6533 0 1 FSTL5 IS35181 nsv830134 4 162539460 162708973 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444056 S 95 1 0 FSTL5 dgv5806n71 4 162540870 162702045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881230,nsv880372 M 6533 0 2 FSTL5 IS31179,IS36244 esv273501 4 162576062 162576404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582551,essv2584317,essv2583380 M 7 3 0 Samples from several populations that are part of the HapMap project. FSTL5 NA12891,NA19238,NA19240 esv268859 4 162576063 162576407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519176,essv2514076,essv2516187,essv2515282,essv2518391,essv2513644 M 157 6 0 Samples from several populations that are part of the HapMap project. FSTL5 NA07347,NA11894,NA12043,NA12891,NA19238,NA19240 dgv5807n71 4 162580667 162690806 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880281,nsv880359,nsv881367 M 6533 0 3 FSTL5 IS31306,IS36219,MS15036 nsv880876 4 162585325 162659082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600289 S 6533 0 1 FSTL5 IS41867 nsv515994 4 162590015 162593243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658889,nssv686558,nssv665633 M 2026 0 3 FSTL5 dgv1708e1 4 162597219 162779160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv138,essv11928 M 271 0 0 FSTL5 NA18502 nsv830135 4 162599768 162748679 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444057 S 95 0 1 FSTL5 nsv292248 4 162601899 162602062 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310826 M 24 FSTL5 nsv461811 4 162608107 162656994 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538161 S 1557 0 1 FSTL5 1780862470_A dgv5808n71 4 162616215 162664217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881223,nsv880930 M 6533 0 8 FSTL5 IS30141,IS30432,IS35789,IS41881,IS41922,IS41940,MS21737,MS21863 dgv5809n71 4 162616215 162702045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881617,nsv880620 M 6533 0 4 FSTL5 IS30539,IS31563,IS38065,MS23531 nsv880555 4 162635366 162664217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564550 S 6533 0 1 FSTL5 IS30238 nsv880988 4 162635366 162690806 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583246 S 6533 1 0 FSTL5 IS36364 dgv5810n71 4 162635366 162702045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880714,nsv881191 M 6533 0 2 FSTL5 IS35549,MS23670 nsv292893 4 162657182 162657265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311471 M 24 FSTL5 nsv511256 4 162666656 162672133 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624744 S 1 1 0 FSTL5 1 nsv10602 4 162666717 162671650 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13722,nssv12814,nssv12337,nssv12560,nssv13827,nssv12808,nssv12655,nssv14393,nssv12332,nssv12506,nssv13791,nssv12873,nssv12317,nssv14850,nssv11560,nssv13019,nssv11915,nssv13933,nssv13628,nssv11599,nssv12828,nssv12262,nssv12346 M 31 19 4 Samples from several populations that are part of the HapMap project. FSTL5 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12802,NA18502,NA18504,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221 nsv435798 4 162667908 162673835 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466161 S 2 0 1 FSTL5 NA15510 dgv131e180 4 162668730 162671113 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1007995,esv996277 M 3 1 0 FSTL5 HuRef dgv905n67 4 162668730 162671113 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822799,nsv822801,nsv822802,nsv822800 M 31 0 30 FSTL5 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821380 4 162668730 162671113 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420452 S 1 0 1 FSTL5 NA10851 esv29667 4 162668957 162671032 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11631 S 451 18 0 FSTL5 NA07045,NA11894,NA11995,NA12004,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA19147,NA19225 esv268143 4 162671095 162671858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514805,essv2518045 M 157 2 0 Samples from several populations that are part of the HapMap project. FSTL5 NA12234,NA12872 dgv5811n71 4 162702045 162956547 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881077,nsv881547 M 6533 0 2 FSTL5 MS15199,SP55537 nsv880693 4 162730820 162758364 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551055,nssv1550887,nssv1572476 M 6533 1 2 FSTL5 IS33073,MS18648,MS18748 nsv880955 4 162730820 162796880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569257,nssv1583044 M 6533 0 2 FSTL5 IS31554,IS36244 dgv5812n71 4 162730820 162880434 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881251,nsv881613,nsv881143,nsv880330,nsv880778 M 6533 0 9 FSTL5 IS31617,IS35083,IS35145,IS35742,IS35911,IS38065,IS39243,MS22104,SP50144 nsv880421 4 162734443 162768671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506668 S 6533 0 1 FSTL5 SP54389 nsv461812 4 162770321 162832015 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538162 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FSTL5 HGDP01279 nsv880480 4 162797927 162907119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551743 S 6533 0 1 FSTL5 MS18978 esv271675 4 162813341 162813532 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2561983,essv2552419,essv2558823,essv2539201,essv2543596,essv2529638 M 157 6 0 Samples from several populations that are part of the HapMap project. FSTL5 NA12874,NA18502,NA18516,NA18519,NA18870,NA19093 nsv290897 4 162813361 162813361 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309475 M 24 FSTL5 nsv880583 4 162815368 162880434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581258 S 6533 0 1 FSTL5 IS35549 dgv5813n71 4 162832015 162907119 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880764,nsv880335 M 6533 0 3 FSTL5 IS30764,IS40368,MS20857 nsv470092 4 162844990 162897761 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546392 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FSTL5 HGDP00553 nsv881244 4 162848962 162896913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597847 S 6533 0 1 FSTL5 IS41292 dgv681n27 4 162859389 162897761 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461814,nsv461813 M 1557 0 2 FSTL5 1780862176_A,NINDS_99 nsv880621 4 162865421 163056908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546112 S 6533 0 1 FSTL5 MS17114 nsv461815 4 162870438 162923589 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538165 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FSTL5 HGDP00773 nsv291231 4 162920362 162920415 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309809 M 24 FSTL5 nsv289833 4 162924280 162924280 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308411 M 24 FSTL5 dgv1709e1 4 162954067 163127415 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv490,essv16316 M 271 0 0 FSTL5 NA19193 nsv881065 4 162958104 163145174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569258 S 6533 0 1 FSTL5 IS31554 esv1964832 4 162995404 162995854 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912858 S 1 0 1 FSTL5 NA18507 esv4615 4 162995516 162995740 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27056 S 1 0 1 Single Asian sample YH FSTL5 YH esv993795 4 162995584 162995661 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577601 S 3 0 1 FSTL5 HuRef dgv177n6 4 162995584 162995662 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv290334,nsv292173,nsv292390 M 24 FSTL5 nsv461819 4 163013352 163100537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538166 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FSTL5 HGDP00716 dgv5814n71 4 163016475 163100537 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880918,nsv881693 M 6533 0 2 FSTL5 MS18620,MS23670 dgv5815n71 4 163016475 163154284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881431,nsv880691 M 6533 0 2 FSTL5 IS35498,MS18847 nsv880594 4 163061103 163100537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513934 S 6533 0 1 FSTL5 SP55878 nsv435789 4 163173442 163180260 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466163 S 2 0 1 FSTL5 NA15510 nsv525141 4 163227688 163228651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701211 S 2026 0 1 FSTL5 nsv822803 4 163250692 163251146 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428704 S 31 1 0 FSTL5 NA18592 nsv881234 4 163253595 163292321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600878,nssv1585344 M 6533 0 2 FSTL5 IS37428,IS41939 esv3010 4 163281647 163282143 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25451 S 1 0 1 Single Asian sample YH FSTL5 YH esv6138 4 163281705 163282018 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28579 S 1 0 1 FSTL5 SJK nsv519755 4 163399388 163399900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697033 S 2026 0 1 "" nsv525896 4 163404101 163405785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702099 S 2026 0 1 "" esv2199432 4 163433618 163434088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4824378 S 1 0 1 "" NA18507 esv4135 4 163433684 163434098 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26576 S 1 0 1 Single Asian sample YH "" YH esv2463386 4 163451298 163452758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390120 S 1 0 1 "" NA18507 dgv27e194 4 163451683 163452350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2005781,esv2266831 M 1 0 1 "" NA18507 nsv289581 4 163451865 163452173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308159 M 24 "" nsv461820 4 163484911 163495091 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538167 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00304 nsv517602 4 163493896 163495091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652482,nssv686505 M 2026 0 2 "" esv24182 4 163497048 163501441 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14237 S 451 0 3 "" NA06985,NA12287,NA19225 dgv906n67 4 163497525 163501777 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822804,nsv822805 M 31 0 2 "" AK4,NA18582 esv9347 4 163497705 163500976 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31788 S 1 0 1 "" SJK dgv907n67 4 163498285 163501152 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822807,nsv822806 M 31 0 5 "" AK2,NA18547,NA18552,NA18949,NA18973 nsv880767 4 163505065 163663158 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579823 S 6533 0 1 "" IS35181 esv2224169 4 163516869 163517310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697113 S 1 0 1 "" NA18507 nsv881608 4 163523645 163546173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518013 S 6533 0 1 "" SP57443 nsv437454 4 163540159 163563966 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467335 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19145 esv25870 4 163589713 163592085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12047 S 451 0 1 "" NA19129 nsv508325 4 163599327 163622281 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617499 S 4 0 1 "" CHM esv2547577 4 163606077 163608303 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224897 S 1 0 1 "" NA18507 esv2638070 4 163612629 163616339 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222952 S 1 0 1 "" NA18507 esv2498792 4 163612667 163617031 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194894 S 1 0 1 "" NA18507 esv2129824 4 163613280 163616050 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677158 S 1 0 1 "" NA18507 esv3587 4 163613399 163615928 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26028 S 1 0 1 Single Asian sample YH "" YH esv9652 4 163613438 163615883 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32093 S 1 0 1 "" SJK nsv289661 4 163613456 163615872 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308239 M 24 "" esv25461 4 163613458 163615903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17418 S 451 0 10 "" NA11931,NA12004,NA12006,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA19240 nsv514267 4 163614944 163615840 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627709 S 1414 0 1 "" esv269875 4 163672916 163673052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510250,essv2503232,essv2505135,essv2495361,essv2504212,essv2506055,essv2498482,essv2495637,essv2503113,essv2497923,essv2506458,essv2497567 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11881,NA11995,NA12287,NA18505,NA18523,NA18858,NA18916,NA18943,NA18945,NA19108,NA19147 nsv516300 4 163786406 163786764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681670,nssv688156,nssv684168,nssv657258,nssv669757,nssv667579,nssv667408,nssv677428 M 2026 0 8 "" nsv513660 4 163795417 163799011 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626912 S 1 0 0 "" 1 nsv289923 4 163797939 163797939 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308501 M 24 "" esv1026097 4 163798007 163798007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932721 S 2 1 0 "" HuRef nsv513661 4 163798160 163800349 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626913 S 1 0 0 "" 1 nsv289719 4 163904712 163904712 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308297 M 24 "" nsv291467 4 163904719 163904719 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310045 M 24 "" esv275453 4 163936479 163937558 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585850,essv2585408 M 1250 1 1 "" esv259905 4 163950474 163950810 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396039,essv2395250,essv2399217,essv2400164,essv2397746,essv2398029 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA18499,NA18508,NA18608,NA18956,NA19147 esv1522021 4 164045944 164045944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724524 S 2 1 0 "" HuRef esv271078 4 164102547 164102717 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495023,essv2511512 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346 esv28155 4 164153104 164154407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17904 S 451 0 1 "" NA19225 nsv437455 4 164170860 164194249 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467336 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18854 nsv10603 4 164172972 164177678 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12590 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv830136 4 164173596 164206678 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444058 S 95 0 1 "" nsv441925 4 164173911 164176879 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2422066 4 164173911 164177106 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5043970,essv5123392,essv5082204,essv5054850,essv5081837,essv5154889,essv5105942,essv5068433,essv5030696,essv5153553,essv5064437,essv5153482,essv5045747,essv5066265,essv5079724,essv5152710,essv5125167 M 1184 0 17 "" NA18505,NA18510,NA18853,NA18854,NA18870,NA19182,NA19190,NA19471,NA19713,NA19900,NA19902,NA19983,NA20792,NA21519,NA21632,NA21685,NA21739 nsv514268 4 164174160 164176848 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627710 S 1414 0 1 "" nsv516475 4 164174542 164177106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662703,nssv692035,nssv673228,nssv679732,nssv692948,nssv683242,nssv668595,nssv680052,nssv681744,nssv678821,nssv684442,nssv690918,nssv656549,nssv673878,nssv686982,nssv660793 M 2026 0 16 "" esv21622 4 164174798 164177311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14433 S 451 0 2 "" NA18505,NA19190 nsv4584 4 164232598 164266223 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4793 S 9 1 0 "" NA19129 nsv4585 4 164285059 164302106 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8022 S 9 0 1 NAF1 NA12156 esv2469391 4 164296229 164297681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239697 S 1 0 1 NAF1 NA18507 nsv289298 4 164296787 164297132 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307876 M 24 NAF1 esv271797 4 164304196 164304558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509800,essv2493824,essv2508223,essv2498472,essv2507401,essv2511682,essv2511124,essv2502350,essv2500584,essv2503690 M 157 10 0 Samples from several populations that are part of the HapMap project. NAF1 NA18508,NA18517,NA18561,NA18858,NA18912,NA18940,NA18944,NA18948,NA18956,NA18960 nsv822811 4 164306726 164307965 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432803 S 31 1 0 NAF1 NA18972 esv2495423 4 164343811 164345533 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378196 S 1 0 1 "" NA18507 esv1917411 4 164344268 164345094 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553638 S 1 0 1 "" NA18507 nsv289835 4 164399446 164400318 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308413 M 24 "" esv2579325 4 164399973 164401454 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255165 S 1 0 1 "" NA18507 nsv527314 4 164424145 164431333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703738 S 2026 0 1 "" nsv507208 4 164449603 164455603 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617651 S 4 1 0 "" CHM nsv822812 4 164464676 164465186 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438788 S 31 1 0 NPY1R NA18973 esv1000463 4 164486305 164486756 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587138 S 3 0 1 NPY5R HuRef nsv527691 4 164496347 164514558 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704167 S 2026 1 0 "" esv2750622 4 164504567 164506533 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99110 S 51 0 1 "" 21938 esv2750557 4 164508633 164511613 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100773 S 51 1 0 "" 21656 nsv507209 4 164516451 164522451 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617652 S 4 1 0 "" CHM nsv4586 4 164708346 164743854 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3299 S 9 1 0 MARCH1 NA12878 esv2293577 4 164721208 164721892 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746308 S 1 0 1 MARCH1 NA18507 esv4777 4 164721334 164721870 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27218 S 1 0 1 Single Asian sample YH MARCH1 YH esv6963 4 164721391 164721701 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29404 S 1 0 1 MARCH1 SJK nsv292001 4 164721391 164721703 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310579 M 24 MARCH1 esv995521 4 164721399 164721711 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573157 S 3 0 1 MARCH1 HuRef esv1594178 4 164721404 164721717 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712703 S 2 0 1 MARCH1 HuRef esv2453665 4 164721598 164723071 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237477 S 1 0 1 MARCH1 NA18507 esv2224163 4 164735533 164735960 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522934 S 1 0 1 MARCH1 NA18507 esv1773945 4 164735741 164735884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799352 S 2 0 1 MARCH1 HuRef esv26379 4 164833170 164834343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11995 S 451 0 2 MARCH1 NA19225,NA19257 nsv818295 4 164847223 164872376 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416435 S 112 0 1 MARCH1 NA18517 nsv513174 4 164875417 164878581 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626671 S 1 0 1 MARCH1 1 nsv293053 4 164877749 164878582 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311631 M 24 MARCH1 esv992191 4 164877754 164878587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572454 S 3 0 1 MARCH1 HuRef nsv881156 4 164889615 164972915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542863 S 6533 0 1 MARCH1 MS15923 nsv830138 4 164893174 165051334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444059 S 95 1 0 MARCH1 esv1471717 4 164977211 164977211 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139778 S 2 1 0 MARCH1 HuRef esv268624 4 165009525 165010485 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511450,essv2497191,essv2500808 M 157 3 0 Samples from several populations that are part of the HapMap project. MARCH1 NA11920,NA18552,NA18973 nsv525419 4 165009967 165039693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701543 S 2026 0 1 MARCH1 esv272911 4 165022255 165022595 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581346 S 7 1 0 Samples from several populations that are part of the HapMap project. MARCH1 NA12878 nsv436419 4 165023789 165040669 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466164 S 2 0 1 Samples from several populations that are part of the HapMap project. MARCH1 NA18505 esv22863 4 165024437 165039513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17579 S 451 0 1 MARCH1 NA18505 nsv521840 4 165079959 165085397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694103 S 2026 0 1 MARCH1 nsv509943 4 165123337 165129337 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621251 S 4 0 1 MARCH1 NA15510 dgv5816n71 4 165142286 165257003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881697,nsv880698 M 6533 0 2 MARCH1 SP54401,SP58240 nsv4588 4 165155168 165200051 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8023 S 9 0 1 MARCH1 NA12156 nsv881073 4 165182325 165238480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583045 S 6533 0 1 MARCH1 IS36244 nsv881505 4 165182325 165263489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551744,nssv1569575 M 6533 0 2 MARCH1 IS31634,MS18978 dgv5817n71 4 165187996 165314678 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880846,nsv881340 M 6533 0 2 MARCH1 IS35498,IS39011 nsv880412 4 165216191 165266037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546113 S 6533 0 1 MARCH1 MS17114 esv267876 4 165253562 165253797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500872,essv2511416,essv2499496,essv2510568,essv2509849,essv2494895,essv2508958,essv2506254,essv2512967,essv2500143,essv2505892,essv2493925,essv2513469,essv2509192,essv2495688,essv2509569,essv2493502,essv2498770,essv2497644,essv2512163,essv2501979,essv2498127 M 157 22 0 Samples from several populations that are part of the HapMap project. MARCH1 NA11830,NA11920,NA12044,NA18501,NA18508,NA18520,NA18522,NA18523,NA18547,NA18573,NA18861,NA18871,NA18907,NA18909,NA18916,NA19129,NA19137,NA19138,NA19147,NA19238,NA19239,NA19240 esv273581 4 165253569 165253811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580862 S 7 1 0 Samples from several populations that are part of the HapMap project. MARCH1 NA19238 esv29373 4 165256917 165259736 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13064 S 451 0 1 MARCH1 NA18907 nsv526583 4 165325939 165327831 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702901 S 2026 1 0 MARCH1 nsv821217 4 165422122 165425852 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420453 S 1 0 1 MARCH1 NA10851 nsv822813 4 165422122 165425852 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426621,nssv1431280,nssv1439646,nssv1429764,nssv1437412,nssv1424944,nssv1435830,nssv1421673 M 31 0 8 MARCH1 AK14,AK18,AK2,AK6,NA18537,NA18566,NA18949,NA18997 esv29511 4 165422353 165425767 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10234 S 451 38 0 MARCH1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819593 4 165422433 165425706 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419522 S 2 1 0 MARCH1 AK1 nsv822814 4 165422469 165425676 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435048,nssv1439618 M 31 1 1 MARCH1 NA18547,NA18942 esv2184592 4 165487004 165487459 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710236 S 1 0 1 MARCH1 NA18507 esv1002929 4 165487201 165487256 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584889 S 3 0 1 MARCH1 HuRef esv993008 4 165487216 165487276 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577386 S 3 0 1 MARCH1 HuRef nsv291507 4 165674889 165674889 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310085 M 24 "" esv2130840 4 165719759 165720248 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748828 S 1 0 1 "" NA18507 nsv471748 4 165719888 165720116 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646029 M 0.496 95 "" nsv4589 4 165749317 165794147 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8024 S 9 0 1 "" NA12156 nsv461822 4 165750484 165994997 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538168 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100505989 HGDP00855 nsv292153 4 165751480 165753375 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310731 M 24 "" nsv881459 4 165766528 165796190 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508795 S 6533 1 0 "" SP54648 esv275055 4 165786152 165788620 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585761,essv2585904 M 1250 1 1 "" nsv516704 4 165796190 165806790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670274,nssv682114 M 2026 0 2 "" nsv830139 4 165838649 166008516 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444060 S 95 1 0 LOC100505989 esv992253 4 165860789 165863310 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563549 S 3 0 1 "" HuRef dgv1710e1 4 165868322 165870199 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6804,esv1168 M 271 0 0 "" NA18594 nsv10604 4 165873276 165943777 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13049,nssv13857 M 31 0 2 Samples from several populations that are part of the HapMap project. LOC100505989 NA19132,NA19173 dgv5818n71 4 165880927 165955838 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881341,nsv880428,nsv881609 M 6533 0 3 LOC100505989 IS31359,IS38993,IS39473 dgv178n6 4 165908848 165909029 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292491,nsv293058 M 24 LOC100505989 nsv293502 4 165929109 165938067 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312080 M 24 LOC100505989 nsv881252 4 165952502 166008055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591580 S 6533 1 0 "" IS38993 nsv507210 4 165962511 165968511 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622914,nssv617653,nssv620269 M 4 3 0 "" CHM,NA15510,NA18994 nsv881303 4 165965491 166028764 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589037 S 6533 1 0 LOC100506013 IS38290 nsv881399 4 165973691 166053095 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590286 S 6533 1 0 LOC100506013 IS38486 nsv880382 4 166012451 166183740 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596475 S 6533 1 0 C4orf39,LOC100506013,TRIM60,TRIM61 IS40524 dgv1711e1 4 166021266 166195800 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8207,esv132 M 271 0 0 C4orf39,LOC100506013,TRIM60,TRIM61 NA19116 nsv528320 4 166028764 166047199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704901 S 2026 0 1 LOC100506013 nsv528686 4 166033809 166149618 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705329 S 2026 1 0 C4orf39,LOC100506013,TRIM61 esv33071 4 166044346 166052615 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98671 S 51 0 1 "" 21606 nsv830140 4 166075449 166176062 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444061 S 95 0 1 C4orf39,TRIM60,TRIM61 nsv822815 4 166077722 166081806 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434386 S 31 1 0 "" NA18570 nsv517554 4 166079401 166097785 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659281,nssv687414,nssv654710,nssv660872,nssv674239,nssv652348,nssv683366,nssv661177,nssv664010,nssv693578,nssv688032,nssv656843,nssv664384,nssv652876,nssv668854,nssv664830,nssv669809,nssv661611,nssv684463,nssv683243,nssv665019,nssv668682,nssv676757,nssv655013,nssv673718,nssv671531,nssv657620,nssv669283,nssv672188,nssv685170 M 2026 0 30 C4orf39,TRIM61 dgv98e19 4 166080423 166088727 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv9278,esv6268 M 1 0 0 "" SJK esv4358 4 166080818 166088890 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26799 S 1 0 1 Single Asian sample YH "" YH esv21636 4 166080891 166103335 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20237 S 451 5 0 C4orf39,TRIM61 NA18502,NA18861,NA18909,NA18916,NA19225 nsv10607 4 166080915 166105999 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13821,nssv13782 M 31 2 0 Samples from several populations that are part of the HapMap project. C4orf39,TRIM61 NA18502,NA18860 esv2421831 4 166087679 166101743 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070712,essv5152040,essv5045203,essv5079408,essv5135189,essv5113797,essv5006234,essv5057817,essv5146243,essv5096055,essv5076889,essv5152794,essv5122810,essv5105265,essv5027389,essv5076640,essv5118338,essv5109544,essv5005310,essv5079208,essv5062492,essv5103252,essv5034704,essv5090475,essv5035638,essv5148680,essv5027183,essv5104826,essv5023364,essv5017234,essv5112399,essv5116497,essv5052873,essv5089442,essv5018206,essv5107247,essv5007165,essv5092114,essv5125378,essv5078619,essv5157020,essv5094841,essv5047572,essv5044209,essv5107326,essv5136848,essv5058388,essv5089983,essv5050130,essv5060190,essv5121753,essv5047211,essv5015157,essv5033666,essv5065901,essv5015317,essv5115863,essv5150549,essv5047154,essv5150343,essv5088917,essv5042569,essv5016444,essv5096478,essv5118609,essv5003455,essv5064392,essv5124126,essv5080338,essv5117070,essv5037992,essv5110608,essv5073805,essv5058773,essv5011652,essv5094038,essv5151059,essv5143047,essv5080033,essv5160147 M 1184 80 0 C4orf39,TRIM61 NA18488,NA18516,NA18518,NA18519,NA18855,NA18859,NA18860,NA18861,NA18863,NA18874,NA18909,NA18930,NA19036,NA19046,NA19093,NA19094,NA19109,NA19120,NA19143,NA19176,NA19178,NA19180,NA19189,NA19191,NA19198,NA19199,NA19209,NA19210,NA19225,NA19256,NA19258,NA19307,NA19321,NA19396,NA19437,NA19474,NA19713,NA19917,NA19918,NA19985,NA20334,NA20336,NA20337,NA21109,NA21118,NA21295,NA21303,NA21344,NA21356,NA21357,NA21365,NA21379,NA21384,NA21386,NA21387,NA21390,NA21408,NA21423,NA21439,NA21447,NA21457,NA21473,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21523,NA21574,NA21599,NA21601,NA21613,NA21620,NA21632,NA21648,NA21686,NA21722,NA21776 nsv822816 4 166087799 166089242 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435049 S 31 0 1 "" NA18942 esv33435 4 166135626 166143911 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100858 S 51 0 1 "" 21656 nsv293285 4 166164584 166168704 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311863 M 24 "" nsv881168 4 166194572 166415888 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596476 S 6533 1 0 KLHL2,TMEM192 IS40524 nsv511271 4 166219645 166230265 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624910 S 1 0 1 TMEM192 1 esv1000719 4 166219852 166229601 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563820 S 3 0 1 TMEM192 HuRef esv2558277 4 166221642 166225378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320931 S 1 0 1 TMEM192 NA18507 nsv513175 4 166221850 166224681 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626672 S 1 0 1 TMEM192 1 dgv908n67 4 166222681 166224547 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822817,nsv822818 M 31 0 30 TMEM192 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820721 4 166222681 166224547 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420454 S 1 0 1 TMEM192 NA10851 esv22270 4 166222892 166224339 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11058 S 451 19 0 TMEM192 NA11894,NA12156,NA12239,NA12776,NA18502,NA18511,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 dgv132e180 4 166222892 166224547 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006745,esv993088 M 3 1 0 TMEM192 HuRef nsv518959 4 166230265 166234216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696426 S 2026 0 1 TMEM192 nsv507211 4 166253401 166259401 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621769,nssv622915 M 4 2 0 TMEM192 NA10860,NA18994 esv2557288 4 166256762 166257118 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335338 S 1 1 0 "" NA18507 esv1031810 4 166256933 166256933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184652 S 2 1 0 "" HuRef esv26333 4 166347887 166348657 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11071 S 451 0 1 KLHL2 NA07045 esv21788 4 166377398 166378505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10617 S 451 0 1 KLHL2 NA19099 nsv289926 4 166470255 166471317 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308504 M 24 MSMO1 nsv822819 4 166552863 166553412 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436578 S 31 0 1 CPE NA18542 nsv819783 4 166562751 166571520 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418554 S 2 0 1 CPE AK1 nsv822820 4 166562852 166571411 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428952 S 31 0 1 CPE NA18592 nsv508327 4 166643890 166695129 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618756 S 4 0 1 "" NA10860 esv273905 4 166666838 166667049 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579081,essv2579621 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1692961 4 166682054 166682054 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970331 S 2 1 0 "" HuRef esv4779 4 166687408 166687924 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27220 S 1 0 1 Single Asian sample YH "" YH esv9129 4 166687483 166687760 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31570 S 1 0 1 "" SJK nsv830141 4 166722358 166909076 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444063 S 95 1 0 "" esv269024 4 166849505 166849590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517410 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 esv2388276 4 166943054 166943482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791851 S 1 0 1 "" NA18507 nsv880566 4 166958578 167067451 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541268 S 6533 0 1 TLL1 MS15218 nsv4590 4 166995727 167029037 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8025 S 9 1 0 TLL1 NA12156 nsv821638 4 167057083 167482075 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421382 S 31 0 1 TLL1 nsv830142 4 167155005 167315372 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444064 S 95 0 1 TLL1 esv1005389 4 167206586 167206586 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582247 S 3 1 0 TLL1 HuRef nsv513176 4 167222172 167225018 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626673 S 1 0 1 TLL1 1 esv4074 4 167223735 167224425 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26515 S 1 0 1 Single Asian sample YH TLL1 YH esv7036 4 167223762 167224374 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29477 S 1 0 1 TLL1 SJK nsv292670 4 167223767 167224362 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311248 M 24 TLL1 esv22616 4 167223768 167224312 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10152 S 451 0 2 TLL1 NA12239,NA15510 nsv821532 4 167223768 167224312 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420455 S 1 0 1 TLL1 NA10851 nsv291079 4 167236912 167236912 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309657 M 24 TLL1 nsv881029 4 167279466 167504207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597685 S 6533 0 1 "" IS41263 nsv291846 4 167322437 167322437 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310424 M 24 "" esv2452347 4 167327173 167328889 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204388 S 1 0 1 "" NA18507 esv1956605 4 167327339 167328097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4991814 S 1 0 1 "" NA18507 esv4308 4 167327469 167327948 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26749 S 1 0 1 Single Asian sample YH "" YH dgv179n6 4 167327538 167327895 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293504,nsv290654 M 24 "" esv991354 4 167327546 167327887 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566803 S 3 0 1 "" HuRef esv1027673 4 167327553 167327895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672111 S 2 0 1 "" HuRef esv6385 4 167327556 167327890 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28826 S 1 0 1 "" SJK esv26304 4 167328397 167331440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14723 S 451 0 1 "" NA12749 nsv4591 4 167354659 167399816 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8026 S 9 0 1 "" NA12156 dgv5819n71 4 167374893 167588262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880900,nsv880967 M 6533 0 2 "" IS33747,SP80994 nsv517047 4 167382752 167404841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653685,nssv672872 M 2026 0 2 "" nsv881390 4 167382752 167457397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564945 S 6533 0 1 "" IS30322 dgv5820n71 4 167382752 167504207 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880804,nsv881290 M 6533 0 4 "" IS39475,IS41043,MS10802,SP52694 nsv881405 4 167413335 167864588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591679 S 6533 0 1 "" IS39011 nsv819551 4 167416338 167423069 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419790 S 2 1 0 "" AK1 esv2195516 4 167486842 167487266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796951 S 1 0 1 "" NA18507 nsv507212 4 167549373 167555373 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620270,nssv617654,nssv621770 M 4 3 0 "" CHM,NA10860,NA15510 esv274243 4 167558215 167558540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581732,essv2582603,essv2583216,essv2584522 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv269880 4 167558216 167558539 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558171,essv2565853,essv2546370,essv2521426,essv2525910,essv2542307,essv2536567,essv2522945,essv2544114,essv2568125,essv2545665,essv2577279,essv2548334,essv2535302,essv2544453,essv2520449,essv2547574,essv2558650,essv2564356,essv2577850,essv2576262,essv2520021,essv2554838,essv2530772,essv2561998,essv2537544,essv2528439,essv2546847,essv2520736,essv2578737,essv2539030,essv2569818,essv2527296,essv2561315,essv2544628,essv2523511,essv2540654,essv2565109,essv2534532,essv2561055,essv2539724,essv2519913,essv2567663,essv2567569,essv2570150,essv2553245,essv2559003,essv2568846,essv2543785,essv2556430,essv2562429,essv2533899,essv2578407,essv2573202,essv2533809,essv2566390,essv2530057,essv2573966,essv2555981,essv2577158,essv2529493,essv2575606,essv2575227,essv2560757,essv2574648,essv2530259,essv2572755,essv2568548,essv2545911,essv2536060,essv2548840,essv2533008,essv2554653,essv2547848,essv2525058 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11995,NA12003,NA12043,NA12045,NA12249,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18510,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18552,NA18558,NA18561,NA18562,NA18563,NA18566,NA18577,NA18582,NA18593,NA18605,NA18638,NA18861,NA18870,NA18871,NA18909,NA18916,NA18940,NA18942,NA18944,NA18948,NA18949,NA18951,NA18956,NA18970,NA19093,NA19099,NA19102,NA19116,NA19138,NA19141,NA19143,NA19147,NA19239 esv1485076 4 167558244 167558244 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208388 S 2 1 0 "" HuRef nsv4592 4 167585257 167612533 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3300 S 9 1 0 "" NA12878 nsv881309 4 167596583 167719683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544191 S 6533 0 1 "" MS16309 nsv830143 4 167605682 167757464 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444066,nssv1444065 M 95 1 1 "" esv2429132 4 167622629 167624126 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329885 S 1 0 1 "" NA18507 dgv180n6 4 167631480 167631603 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292106,nsv289402 M 24 "" esv272626 4 167680769 167680956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578934 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv508328 4 167706561 167793431 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618757 S 4 0 1 "" NA10860 nsv507213 4 167713359 167719359 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620271 S 4 1 0 "" NA15510 esv28618 4 167720576 167721285 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11889 S 451 3 22 "" NA07037,NA07045,NA12156,NA12239,NA12489,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240,NA19257 esv998934 4 167721266 167724453 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564293 S 3 1 0 "" HuRef nsv880856 4 167731000 167832811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525030 S 6533 0 1 "" SP55463 esv271544 4 167761367 167761690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494207,essv2509836,essv2509170,essv2493862 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18508,NA18909,NA19210 nsv880770 4 167881927 168008009 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568121 S 6533 0 1 SPOCK3 IS31205 nsv4593 4 167893449 167947910 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2492,nssv3301,nssv9879,nssv7130,nssv4794,nssv427 M 9 0 6 SPOCK3 NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 nsv822822 4 167901003 167907424 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429075 S 31 1 0 SPOCK3 NA18592 nsv508329 4 167911035 167930309 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619948,nssv622506,nssv617501 M 4 0 3 SPOCK3 CHM,NA15510,NA18994 dgv97n16 4 167912084 167919844 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435782,nsv436422 M 2 0 2 SPOCK3 NA15510,NA18505 esv2619228 4 167912715 167920709 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191158 S 1 0 1 SPOCK3 NA18507 esv2510827 4 167912779 167920099 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340685 S 1 0 1 SPOCK3 NA18507 esv1005052 4 167913039 167919670 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564805 S 3 0 1 SPOCK3 HuRef esv2120481 4 167913423 167919837 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652482 S 1 0 1 SPOCK3 NA18507 nsv513177 4 167913484 167919931 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626674 S 1 0 1 SPOCK3 1 esv3863 4 167913579 167919791 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26304 S 1 0 1 Single Asian sample YH SPOCK3 YH nsv499072 4 167913611 167919659 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585933 S 9 0 1 SPOCK3 esv8954 4 167913621 167919648 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31395 S 1 0 1 SPOCK3 SJK nsv528717 4 167961173 167975039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705367 S 2026 0 1 SPOCK3 nsv822823 4 167967093 167968004 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424171 S 31 0 1 SPOCK3 NA18582 esv269876 4 168035775 168035860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514508 S 157 1 0 Samples from several populations that are part of the HapMap project. SPOCK3 NA11840 esv29919 4 168112517 168129411 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11520 S 451 1 0 SPOCK3 NA18505 nsv436877 4 168114432 168317020 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466167 S 2 1 0 Samples from several populations that are part of the HapMap project. SPOCK3 NA18505 dgv1712e1 4 168128071 168427566 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv247,essv15459 M 271 0 0 SPOCK3 NA18505 nsv436416 4 168128702 168260370 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466168 S 2 0 1 Samples from several populations that are part of the HapMap project. SPOCK3 NA18505 nsv881605 4 168161847 168224079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513935 S 6533 0 1 SPOCK3 SP55878 esv24658 4 168261220 168317117 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12752 S 451 1 0 SPOCK3 NA18505 nsv293099 4 168266722 168266722 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311677 M 24 SPOCK3 nsv881679 4 168337064 168417256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580575 S 6533 1 0 SPOCK3 IS35380 esv2432618 4 168344951 168352390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239487 S 1 0 1 SPOCK3 NA18507 nsv436442 4 168345443 168352348 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466169 S 2 0 1 Samples from several populations that are part of the HapMap project. SPOCK3 NA18505 nsv820858 4 168345584 168352080 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420456 S 1 0 1 SPOCK3 NA10851 esv1003468 4 168345749 168351633 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586139 S 3 1 0 SPOCK3 HuRef esv28141 4 168345749 168352080 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19564 S 451 26 1 SPOCK3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18511,NA18517,NA18858,NA18907,NA18916,NA19099,NA19129,NA19190,NA19225,NA19240,NA19257 esv2540605 4 168346159 168352388 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209838 S 1 0 1 SPOCK3 NA18507 esv2475463 4 168351443 168352847 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389602 S 1 0 0 SPOCK3 NA18507 nsv880344 4 168368023 168417256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582647 S 6533 1 0 SPOCK3 IS36065 nsv880607 4 168408974 168456921 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513330 S 6533 0 1 "" SP55747 nsv880694 4 168441139 168489136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499269 S 6533 1 0 "" SP50690 nsv4594 4 168455233 168486023 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10428 S 9 1 0 "" NA18956 nsv881647 4 168473476 168563808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527386 S 6533 1 0 "" SP58400 esv2422317 4 168475112 168730333 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161247 S 181 0 1 "" ND04980 nsv516858 4 168500646 168500824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654482,nssv679324 M 2026 0 2 "" esv25195 4 168513211 168516627 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14567 S 451 1 0 "" NA11894 esv2376809 4 168551519 168551938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998688 S 1 0 1 "" NA18507 nsv461823 4 168553323 168715220 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538169 S 1557 1 0 "" 1780862576_A esv271751 4 168558345 168558534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498504,essv2495576,essv2503111,essv2497956,essv2512279,essv2506502,essv2509570 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA18916,NA18943,NA18945,NA18949,NA19108,NA19129 nsv880265 4 168581714 168633296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575913 S 6533 0 1 "" IS33839 nsv513178 4 168608001 168609710 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626675 S 1 0 1 "" 1 esv2596288 4 168621861 168623337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297037 S 1 0 1 "" NA18507 nsv830144 4 168625506 168799583 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444069,nssv1444068,nssv1444067 M 95 3 0 "" nsv461824 4 168633296 168863014 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538170 S 1557 0 1 "" NINDS_160 nsv4595 4 168653556 168678876 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10429 S 9 0 1 "" NA18956 nsv499073 4 168654883 168660585 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585934 S 9 0 1 "" nsv880556 4 168707761 168846735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570907 S 6533 0 1 "" IS32329 esv22586 4 168712687 168727544 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13015 S 451 1 0 "" NA19099 nsv880656 4 168715220 168941613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557707 S 6533 0 1 "" MS22814 dgv5821n71 4 168786881 168899129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880588,nsv880295 M 6533 0 2 "" IS35776,MS12564 nsv461825 4 168826583 168868488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538171 S 1557 0 1 "" NINDS_43 dgv5822n71 4 168833462 168989148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881527,nsv880857,nsv881671 M 6533 0 3 "" IS34895,IS41224,IS41292 nsv830145 4 168834609 168980564 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444070 S 95 0 1 "" nsv290269 4 168834900 168842228 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308847 M 24 "" nsv521377 4 168844610 168880381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697987 S 2026 0 1 "" nsv519784 4 168853295 168863014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686817,nssv658564 M 2026 0 2 "" nsv428455 4 168885634 169288268 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450183,nssv450179,nssv450205,nssv450178,nssv450190,nssv450182,nssv450185,nssv450195,nssv450210,nssv450200,nssv450202,nssv450201,nssv450204,nssv450192,nssv450206,nssv450180,nssv450188,nssv450181,nssv450184,nssv450199,nssv450191,nssv450208,nssv450197,nssv450194,nssv450207,nssv450203,nssv450189,nssv450186,nssv450193,nssv450196 M 62 30 0 ANXA10 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv881435 4 168891094 168941613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509132 S 6533 0 1 "" SP54753 esv269125 4 168930589 168930674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514649 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 esv1128959 4 168945507 168945607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348772 S 2 0 1 "" HuRef esv1704546 4 168945641 168945696 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257283 S 2 0 1 "" HuRef esv1710661 4 168945772 168945772 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753838 S 2 1 0 "" HuRef nsv291668 4 168962223 168962223 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310246 M 24 "" esv1305192 4 168962258 168962258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703683 S 2 1 0 "" HuRef dgv1713e1 4 168971166 169168275 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15864,essv10153,essv7852 M 271 0 0 "" NA18558,NA19130,NA19223 dgv1714e1 4 168971166 169334003 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv816,essv640,essv1822,essv13780,essv18173,essv274,essv21854,essv20139,essv23853,essv2804,essv2968,essv8458,essv8171,essv23220,essv11986,essv5258,essv2603,essv24965,essv53,essv6610,essv13174,essv3471,essv14882,essv3873,essv16519,essv5821,essv2268,essv18094,essv1226,essv17488,essv16870,essv1758,essv9410,essv5318,essv2169,essv4598,essv7587,essv2462,essv3139,essv5033,essv2535,essv4195,essv22577,essv7107,essv1408,essv20790,essv8731,essv10921,essv16651,essv14598,essv15284,essv18660,essv22455,essv8844,essv20346,essv10040,essv24076,essv9159,essv16134,essv20436,essv22994,essv7141,essv4620,essv8328,essv8183,essv13674,essv7368,essv22343,essv12473,essv17063,essv531,essv20230,essv2688,essv14548,essv24753,essv5208,essv10790,essv4175,essv21759,essv15084,essv21659,essv1526,essv15417,essv23478,essv19009,essv22413,essv9022,essv6743,essv22078,essv5109,essv18849,essv17242,essv16422,essv10405,essv19670,essv12164,essv1023,essv21136,essv11183,essv11013,essv6173,essv14140,essv5992,essv8379,essv9260,essv5171,essv19629,essv23656,essv15585,essv15533,essv11955,essv22384,essv14387,essv12293,essv21016,essv14348,essv14462,essv17020,essv18433,essv11650,essv1928,essv918,essv11797,essv23989,essv6395,essv20190,essv4816,essv11548,essv14709,essv6974,essv19409,essv20065,essv4027,essv5925,essv6225,essv11859,essv4990,essv19238,essv8948,essv20896,essv13101,essv3178,essv17642,essv9385,essv24501,essv10456,essv24875,esv530,essv4434,essv13914,essv23034,essv5557,essv6866,essv22498,essv10664,essv23328,essv17316,essv7022,essv10198,essv24592,essv19920,essv21237,essv13416,essv17595,essv3220,essv17803,essv12421,essv12985,essv16338,essv24307,essv23935,essv14086,essv6668,essv15365,essv18117,essv17165,essv19496,essv7277,essv14980,essv19102,essv23770,essv4282,essv13583,essv10852,essv4474,essv18350,essv16737,essv21968,essv5755,essv7740,essv23188,essv4895,essv15613,essv17717,essv9598,essv15794,essv9745,essv21558,essv17919,essv12747,essv18297,essv24408,essv22634,essv18738,essv1631,essv20628,essv24661,essv3786,essv12784,essv1471,essv5444,essv4694,essv22846,essv3376,essv21332,essv3723,essv24903,essv10574,essv22745,essv262,essv23133,essv20664,essv2086,essv22913,essv13553,essv1198,essv12639,essv16276,essv490,essv11242,essv2887,essv21430,essv19196,essv11437,essv6820,essv16035,essv23616,essv1155,essv9761,essv24158,essv23423,essv3527,essv8609,essv12567,essv11737,essv148,essv18367,essv6368,essv23560,essv9903,essv10291,essv3992,essv22242,essv21245,essv315 M 271 0 0 ANXA10 NA06985,NA06991,NA06993,NA06994,NA07000,NA07019,NA07022,NA07029,NA07034,NA07048,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10838,NA10839,NA10846,NA10847,NA10854,NA10855,NA10856,NA10859,NA10860,NA10861,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12005,NA12006,NA12044,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12707,NA12716,NA12717,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12891,NA12892,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18524,NA18526,NA18529,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18960,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19238,NA19239,NA19240 esv2307041 4 169012485 169012881 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899921 S 1 0 1 "" NA18507 nsv435941 4 169012566 169013356 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466170 S 2 1 0 "" NA15510 nsv507214 4 169014942 169020942 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622916,nssv621771,nssv617655 M 4 3 0 "" CHM,NA10860,NA18994 dgv1715e1 4 169026534 169334003 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3271,essv17875,essv19755,essv7390,essv21401,essv7699,essv2352,essv18566,essv3781 M 271 0 0 ANXA10 NA10835,NA10851,NA10857,NA12740,NA18623,NA18633,NA18940,NA18961,NA18972 dgv1716e1 4 169031756 169232743 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18684,essv23094 M 271 0 0 "" NA12043,NA12056 dgv105n17 4 169031756 169235503 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436974,nsv436973 M 60 0 2 "" NA10851,NA10857 esv22283 4 169031943 169033927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10358 S 451 0 1 "" NA19129 nsv515789 4 169032188 169034754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683057,nssv664789,nssv685102,nssv682607,nssv691920,nssv689681,nssv664927,nssv663584,nssv682888 M 2026 0 9 "" nsv526543 4 169032188 169051922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702857 S 2026 0 1 "" dgv194e55 4 169042961 169282747 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752039,esv35159,esv2752040 M 771 0 3 ANXA10 BEC_101,BEC_452,NA10857 nsv515790 4 169044265 169224618 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687620,nssv689518,nssv677677,nssv693234,nssv682889,nssv697528,nssv689682,nssv680540,nssv698937,nssv682608,nssv660520,nssv685103,nssv655070,nssv679806,nssv691921,nssv665973,nssv672599,nssv656520,nssv679342,nssv683058,nssv681065,nssv664790,nssv661639,nssv668388,nssv660387,nssv677876,nssv675352,nssv672424,nssv684032,nssv663585 M 2026 21 9 "" nsv10608 4 169044557 169231872 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13079,nssv12685,nssv12367,nssv12376,nssv12225,nssv14453,nssv13814,nssv11590,nssv13812,nssv14880,nssv11945,nssv12292,nssv12347,nssv12620,nssv12858,nssv12903,nssv12362,nssv13963,nssv11629,nssv12536,nssv12838,nssv13231,nssv13851,nssv13658,nssv12156,nssv11861,nssv13887,nssv12684,nssv12844,nssv12939 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820376 4 169044764 169229560 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420457 S 1 0 1 "" NA10851 esv26479 4 169045158 169229560 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19777,esv15876 M 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819449 4 169045203 169230108 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418789 S 2 1 0 "" AK1 nsv822824 4 169045542 169228731 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432023 S 31 0 1 "" AK20 dgv682n27 4 169046680 169224618 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461829,nsv461826,nsv461827 M 1557 0 3 "" 1780862574_A,HGDP00722,NINDS_17 nsv470093 4 169051922 169224618 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546393 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00722 nsv818296 4 169051922 169224618 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416772,nssv1416761,nssv1416235,nssv1416234 M 112 0 4 "" NA10851,NA10857,NA12043,NA12056 nsv461830 4 169052005 169077703 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538176 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00925 nsv441926 4 169055017 169080681 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421528 4 169055018 169079074 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121541,essv5107677,essv5047035,essv5017633,essv5136401,essv5120590,essv5069214,essv5103048,essv5119398,essv5098140,essv5121520,essv5151007,essv5037703,essv5033983,essv5133206,essv5160477,essv5129117,essv5100289,essv5098712 M 1184 19 0 "" NA18857,NA18934,NA18935,NA19128,NA19129,NA19184,NA19186,NA19197,NA19199,NA19213,NA19215,NA19704,NA19705,NA19713,NA19985,NA20344,NA20349,NA21620,NA21719 nsv514269 4 169055376 169079664 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627711 S 1414 0 0 "" nsv818297 4 169056796 169077703 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416342,nssv1416343 M 112 2 0 "" NA18856,NA18857 nsv461831 4 169059847 169102757 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538177 S 1557 0 1 "" 1780862162_A nsv437946 4 169060171 169073269 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468662,nssv468661 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10851,NA12056 nsv291807 4 169063125 169063125 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310385 M 24 "" nsv881157 4 169094037 169192558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529081 S 6533 0 1 "" SP81440 esv269714 4 169125722 169126022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523451,essv2535189,essv2565257 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12004,NA12249,NA12812 nsv437947 4 169202308 169224618 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468665,nssv468664 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10851,NA12056 nsv881050 4 169204793 169309463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565780 S 6533 0 1 ANXA10 IS30522 nsv830146 4 169212724 169379987 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444071 S 95 1 0 ANXA10,DDX60 dgv5823n71 4 169245899 169345496 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880675,nsv880952 M 6533 0 2 ANXA10 IS33616,IS36244 nsv881291 4 169257141 169580097 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524010 S 6533 1 0 ANXA10,DDX60,DDX60L SP54796 nsv881391 4 169259520 169309463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517405 S 6533 0 1 ANXA10 SP57270 nsv820236 4 169266679 169268037 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419244 S 2 1 0 ANXA10 AK1 nsv822825 4 169266805 169267636 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426089,nssv1435051,nssv1439641,nssv1429200,nssv1432805,nssv1433622 M 31 6 0 ANXA10 NA18526,NA18547,NA18592,NA18942,NA18947,NA18972 nsv521908 4 169320269 169325480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694679 S 2026 0 1 ANXA10 nsv293790 4 169340756 169346298 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312368 M 24 ANXA10 esv2594586 4 169352856 169355902 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248054 S 1 0 1 "" NA18507 esv25173 4 169353056 169355005 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16801 S 451 0 3 "" NA18909,NA19108,NA19114 esv2078384 4 169353225 169355190 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4988992 S 1 0 1 "" NA18507 esv8417 4 169353418 169354993 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30858 S 1 0 1 "" SJK nsv290683 4 169357416 169357501 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309261 M 24 "" nsv4596 4 169386062 169421461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3302 S 9 1 0 DDX60 NA12878 nsv880400 4 169492425 169609284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584262 S 6533 1 0 DDX60L IS36936 nsv881379 4 169598472 169740674 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524011 S 6533 1 0 DDX60L,PALLD SP54796 nsv509023 4 169638671 169654421 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619387 S 4 1 0 "" NA10860 nsv528045 4 169685203 169690892 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704577 S 2026 1 0 PALLD nsv880897 4 169740674 170513021 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564964 S 6533 1 0 CBR4,PALLD,SH3RF1 IS30325 nsv461834 4 169766914 169788117 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538178 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PALLD HGDP00812 nsv830147 4 169773664 169971569 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444072 S 95 1 0 PALLD nsv509944 4 169774118 169780118 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618191 S 4 0 1 PALLD CHM esv1342986 4 169783231 169783231 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589106 S 2 1 0 PALLD HuRef esv4297 4 169850798 169851090 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26738 S 1 0 1 Single Asian sample YH PALLD YH esv22309 4 169866823 169867849 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10007 S 451 1 0 PALLD NA19129 nsv524640 4 169879654 169912607 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700605 S 2026 1 0 PALLD nsv291025 4 169891632 169896324 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309603 M 24 PALLD esv1134701 4 169896399 169896399 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765082 S 2 1 0 PALLD HuRef nsv881010 4 169921611 169961584 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555775 S 6533 1 0 PALLD MS21550 nsv437949 4 169925823 169930654 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468667,nssv468666 M 269 0 2 Samples from several populations that are part of the HapMap project. PALLD NA18852,NA18861 nsv290017 4 169928797 169932453 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308595 M 24 PALLD nsv525234 4 170000887 170006368 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701323 S 2026 1 0 PALLD nsv527077 4 170001206 170003170 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703456 S 2026 1 0 PALLD esv271337 4 170025683 170025768 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514984 S 157 1 0 Samples from several populations that are part of the HapMap project. PALLD NA12812 esv34043 4 170067599 170166243 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CBR4,PALLD nsv4597 4 170177606 170209528 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3303 S 9 1 0 "" NA12878 nsv522452 4 170211331 170245522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705815 S 2026 0 1 "" nsv4599 4 170220368 170252999 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv428 S 9 1 0 SH3RF1 NA19240 esv1652566 4 170225783 170225783 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663676 S 2 1 0 "" HuRef esv1236515 4 170336042 170336094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236447 S 2 0 1 SH3RF1 HuRef nsv290567 4 170336095 170336095 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309145 M 24 SH3RF1 esv1943131 4 170387500 170387977 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522195 S 1 0 1 SH3RF1 NA18507 nsv507215 4 170446293 170452293 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622917,nssv621772,nssv617656,nssv620272 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv268671 4 170490855 170491215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510758 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18501 esv2531759 4 170514465 170516117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304176 S 1 0 1 "" NA18507 esv1921271 4 170514862 170515634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587231 S 1 0 1 "" NA18507 esv4075 4 170515004 170515528 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26516 S 1 0 1 Single Asian sample YH "" YH esv8240 4 170515036 170515464 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30681 S 1 0 1 "" SJK nsv292495 4 170515040 170515460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311073 M 24 "" esv2559749 4 170522948 170525847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170657 S 1 0 1 "" NA18507 esv2373741 4 170523311 170525095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792667 S 1 0 1 "" NA18507 esv25910 4 170523618 170524820 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16439 S 451 0 3 "" NA18861,NA19099,NA19225 dgv5824n71 4 170634431 170699554 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880551,nsv880657 M 6533 0 2 NEK1 SP56267,SP57270 esv2448929 4 170686891 170688362 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265835 S 1 0 1 NEK1 NA18507 nsv518832 4 170817393 170863127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696285 S 2026 0 1 CLCN3 nsv4600 4 170866628 170876487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3140 S 9 1 0 CLCN3 NA18555 esv272640 4 170895606 170895691 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581609 S 7 1 0 Samples from several populations that are part of the HapMap project. C4orf27 NA12878 esv8012 4 170945016 170945077 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30453 S 1 1 0 "" SJK esv1361053 4 170945017 170945017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344216 S 2 1 0 "" HuRef nsv830149 4 170969323 171157019 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444075 S 95 0 1 LOC100506085,MFAP3L nsv822826 4 171032619 171034586 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434388 S 31 1 0 "" NA18570 esv2502560 4 171044574 171045908 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315702 S 1 0 1 "" NA18507 esv2126406 4 171044838 171045386 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698910 S 1 0 1 "" NA18507 nsv881074 4 171067757 171148853 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536363 S 6533 1 0 LOC100506085,MFAP3L MS12727 esv267389 4 171071137 171071471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516703,essv2519220,essv2514140,essv2518750,essv2514715,essv2518597,essv2515173,essv2515592,essv2518134,essv2516076,essv2514466,essv2517654,essv2516232,essv2517253,essv2513924,essv2515260,essv2513701 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11894,NA12043,NA12045,NA12234,NA12287,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA18970,NA19143,NA19238 esv272867 4 171071145 171071469 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582125,essv2582671,essv2584139 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv1187803 4 171071172 171071172 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717800 S 2 1 0 "" HuRef nsv291990 4 171071173 171071173 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310568 M 24 "" esv275368 4 171080719 171083604 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586080 S 1250 0 1 LOC100506085 esv2159613 4 171117720 171118138 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873273 S 1 0 1 LOC100506085 NA18507 nsv520717 4 171118054 171123368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697572 S 2026 0 1 LOC100506085 nsv822827 4 171183052 171185468 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432806 S 31 1 0 MFAP3L NA18972 nsv4601 4 171206447 171251139 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8027 S 9 0 1 AADAT NA12156 nsv830150 4 171230488 171388343 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444076 S 95 1 0 AADAT nsv880430 4 171282645 171334721 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539938 S 6533 1 0 "" MS14610 esv21878 4 171288549 171291459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18840 S 451 0 1 "" NA12489 nsv4602 4 171298559 171337766 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8028 S 9 0 1 "" NA12156 nsv880753 4 171304652 171388967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581708 S 6533 0 1 "" IS35701 esv990966 4 171305584 171316222 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563521 S 3 0 1 "" HuRef esv25705 4 171307158 171310077 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9864,esv13702 M 451 0 8 "" NA07045,NA11995,NA12004,NA12006,NA12156,NA18861,NA19114,NA19240 esv1001760 4 171307379 171309690 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586640 S 3 0 1 "" HuRef nsv518567 4 171339911 171356751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696010 S 2026 0 1 "" nsv4603 4 171391682 171425247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3141 S 9 1 0 "" NA18555 nsv293347 4 171468381 171470715 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311925 M 24 "" nsv437456 4 171502492 171511620 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467337 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19211 nsv10609 4 171503916 171511408 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13139 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv2422000 4 171504519 171509733 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5146205,essv5031323,essv5064917,essv5153889,essv5068705,essv5136121,essv5036797,essv5112403,essv5042236,essv5006708,essv5084143,essv5126086,essv5100715,essv5129377,essv5015006,essv5099881,essv5087342,essv5024899,essv5039641,essv5126756,essv5123440,essv5044879,essv5044630,essv5149952,essv5075547,essv5103508,essv5110413,essv5048523,essv5056764,essv5028121,essv5130123,essv5156752,essv5097239,essv5160285,essv5077697,essv5082947,essv5131968,essv5131543,essv5089101,essv5149445,essv5082831,essv5051401,essv5088358,essv5011142,essv5135483,essv5110661,essv5075119,essv5143571,essv5127843,essv5117473,essv5102463,essv5068512,essv5019971,essv5051090,essv5051331,essv5072911,essv5094284,essv5006814,essv5076624,essv5049377,essv5127028,essv5090781,essv5049815,essv5084257,essv5134473,essv5120902,essv5144919,essv5144102 M 1184 0 68 "" NA06984,NA07022,NA10830,NA10852,NA11995,NA12045,NA12154,NA12283,NA18515,NA18516,NA19171,NA19173,NA19181,NA19183,NA19203,NA19209,NA19211,NA19257,NA19384,NA19390,NA19428,NA19474,NA19676,NA19701,NA19723,NA19724,NA19726,NA19727,NA19794,NA19796,NA20288,NA20335,NA20337,NA20348,NA20356,NA20360,NA20527,NA20531,NA20539,NA20752,NA20797,NA20803,NA20813,NA20846,NA20884,NA20889,NA21109,NA21111,NA21384,NA21386,NA21388,NA21389,NA21400,NA21401,NA21423,NA21425,NA21438,NA21439,NA21517,NA21524,NA21525,NA21575,NA21599,NA21601,NA21616,NA21650,NA21685,NA21741 nsv514270 4 171504640 171509744 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627712 S 1414 0 1 "" nsv441927 4 171504657 171509731 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv22377 4 171505393 171510324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20280 S 451 0 2 "" NA11995,NA19257 nsv509945 4 171510655 171516655 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623965,nssv622072,nssv618192,nssv621252 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2058100 4 171528516 171528931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975914 S 1 0 1 "" NA18507 nsv291133 4 171528642 171528707 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309711 M 24 "" esv1119416 4 171528713 171528778 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992647 S 2 0 1 "" HuRef nsv7366 4 171552938 171850814 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3304 S 9 0 0 HSP90AA6P NA12878 nsv507216 4 171553172 171559172 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621773,nssv622918,nssv620273 M 4 3 0 "" NA10860,NA15510,NA18994 nsv290126 4 171564170 171564170 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308704 M 24 "" nsv499805 4 171583006 171859364 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585550 S 9 0 0 HSP90AA6P esv2255493 4 171599017 171599457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843661 S 1 0 1 "" NA18507 esv4554 4 171599049 171599498 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26995 S 1 0 1 Single Asian sample YH "" YH esv997401 4 171599207 171599359 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582127 S 3 0 1 "" HuRef esv1193272 4 171599235 171599388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241411 S 2 0 1 "" HuRef nsv880492 4 171622843 171669712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502029 S 6533 1 0 "" SP50927 esv274640 4 171625327 171625442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580742 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv273172 4 171633105 171633190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581360 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv830151 4 171660141 171814442 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444077 S 95 0 1 HSP90AA6P nsv507217 4 171717354 171723354 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617657,nssv622919 M 4 2 0 "" CHM,NA18994 esv2197092 4 171786037 171786765 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745734 S 1 0 1 "" NA18507 dgv5825n71 4 171857089 171928205 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881141,nsv881235 M 6533 2 0 "" IS35573,IS36612 nsv880422 4 171874489 171928205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552433 S 6533 0 1 "" MS19420 nsv881606 4 171877258 171997084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528885,nssv1550739 M 6533 0 2 "" MS18588,SP81387 nsv461835 4 171878626 171925443 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538179 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00746 nsv881345 4 171910340 172465122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549497 S 6533 1 0 LOC100506122 MS18252 esv275125 4 171923882 171929655 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585944 S 1250 0 1 "" dgv5826n71 4 171931314 172079301 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881415,nsv881334 M 6533 0 2 "" IS34809,IS40552 esv272734 4 171975988 171976340 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580239,essv2580443,essv2580054,essv2578877 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv268364 4 171975994 171976247 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544168,essv2568383,essv2550715,essv2535196,essv2543769,essv2546088 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA11995,NA12155,NA12249,NA18870,NA19239 nsv521422 4 172044831 172061124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698032 S 2026 0 1 "" nsv508330 4 172053716 172058397 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622507 S 4 0 1 "" NA18994 dgv5827n71 4 172079301 172193575 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881662,nsv880853 M 6533 0 3 "" IS34573,IS36990,MS17121 esv8838 4 172125406 172125752 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31279 S 1 0 1 "" SJK nsv293463 4 172125431 172125749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312041 M 24 "" nsv822828 4 172184431 172185615 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425723 S 31 1 0 "" AK4 nsv290546 4 172206259 172206321 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309124 M 24 LOC100506122 nsv461837 4 172325862 172384472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538180 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01347 esv1038204 4 172378051 172378105 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664839 S 2 0 1 "" HuRef nsv881556 4 172441683 172727859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591680 S 6533 0 1 "" IS39011 nsv880546 4 172465828 172527315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600978 S 6533 0 1 "" IS41955 dgv5828n71 4 172488168 172604115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881082,nsv880813 M 6533 0 2 "" IS30667,IS31581 nsv461838 4 172498128 173675840 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538181 S 1557 1 0 GALNTL6 1780854479_A dgv1717e1 4 172503834 172531832 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv422,essv16336 M 271 0 0 "" NA19193 esv268443 4 172525394 172525479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515320,essv2517787,essv2513964 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12878,NA19143 esv272833 4 172525394 172525479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581551 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv5829n71 4 172552343 172625303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881483,nsv881499,nsv881194 M 6533 0 3 "" IS33566,IS34395,MS22492 nsv880978 4 172552343 172641670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568934 S 6533 0 1 "" IS31373 dgv5830n71 4 172552343 172727859 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881360,nsv880557 M 6533 0 3 "" MS12827,MS15749,MS18978 dgv1718e1 4 172560909 172604186 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25045,esv986,essv24036 M 271 0 0 "" NA12801,NA12873 nsv880315 4 172565333 172625303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545198 S 6533 1 0 "" MS16708 esv270863 4 172580028 172580113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514011 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 essv20528 4 172584614 172604115 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12716 nsv4604 4 172597239 172662361 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8029,nssv4675 M 9 0 2 "" NA12156,NA19129 esv1011223 4 172608117 172617427 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564168 S 3 0 1 "" HuRef nsv437458 4 172609963 172616444 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467339 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv513179 4 172610235 172616349 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626677 S 1 0 1 "" 1 nsv508331 4 172610649 172616173 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622508,nssv617502 M 4 0 2 "" CHM,NA18994 nsv10610 4 172610732 172619021 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12255,nssv12186,nssv13169,nssv11620,nssv13917,nssv14483,nssv12933,nssv13844,nssv12714,nssv12397,nssv13993,nssv12715,nssv11975 M 31 5 8 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA10863,NA11830,NA12802,NA18504,NA18517,NA18537,NA18972,NA18975,NA18980,NA19132,NA19173 esv2982 4 172610927 172616071 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25423 S 1 0 1 Single Asian sample YH "" YH nsv511237 4 172610975 172625303 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624533 S 1 0 1 "" 1 esv23313 4 172610978 172616208 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15373,esv14448 M 451 10 5 "" NA07045,NA11931,NA12006,NA12287,NA12489,NA12828,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA19108,NA19257 nsv820711 4 172610978 172616940 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420459 S 1 0 1 "" NA10851 nsv822829 4 172610978 172616940 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435053,nssv1438790,nssv1429323 M 31 0 3 "" NA18592,NA18942,NA18973 nsv499074 4 172610986 172616002 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585935 S 9 0 1 "" esv1767001 4 172610987 172616001 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347659 S 2 0 1 "" HuRef esv6571 4 172610995 172616005 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29012 S 1 0 1 "" SJK nsv442930 4 172611459 172614508 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421416 4 172611459 172616444 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133510,essv5155094,essv5043187,essv5096915,essv5111717,essv5011846,essv5117872,essv5117801,essv5087830,essv5067541,essv5159280,essv5018705,essv5116545,essv5016450,essv5019719,essv5040395,essv5025880,essv5055836,essv5122940,essv5023508,essv5004275,essv5031178,essv5080882,essv5005068,essv5152729,essv5139190,essv5079914,essv5032183,essv5021610,essv5066610,essv5116747,essv5065845,essv5072484,essv5111130,essv5055556,essv5139925,essv5145723,essv5115064,essv5002784,essv5041334,essv5034953,essv5035597,essv5070874,essv5154517,essv5120084,essv5079933,essv5126040,essv5141509,essv5037766,essv5114007,essv5030552,essv5015552,essv5007217,essv5008091,essv5138021,essv5009128,essv5118788,essv5129221,essv5125871,essv5143062,essv5058381,essv5156588,essv5046457,essv5144886,essv5064173,essv5102790,essv5058835,essv5032391,essv5061483,essv5130911,essv5103370,essv5055047,essv5002192,essv5092669,essv5122365,essv5060819,essv5114629,essv5132027,essv5079301,essv5064206,essv5142162,essv5157036,essv5044808,essv5117099,essv5117650,essv5008599,essv5010035,essv5058466,essv5071431,essv5046274,essv5090984,essv5006334,essv5091212,essv5019197,essv5112380,essv5151005,essv5060459,essv5037425,essv5030209,essv5084201,essv5044437,essv5118135,essv5034872,essv5083350,essv5106602,essv5115037,essv5021929,essv5017399,essv5041163,essv5103258,essv5114733,essv5068939,essv5069109,essv5046053,essv5095164,essv5137576,essv5113818,essv5156412,essv5100032,essv5027553,essv5114486,essv5071227,essv5160804,essv5108221,essv5104621,essv5150523,essv5013119,essv5125092,essv5096618,essv5114314,essv5149042,essv5146971,essv5079047,essv5155882,essv5157288,essv5002923,essv5045016,essv5112666,essv5154122,essv5033968,essv5078100,essv5109390,essv5135848,essv5077163,essv5077551,essv5062026,essv5101058,essv5123142,essv5151275,essv5034365,essv5126153,essv5057399,essv5028488,essv5057370,essv5112469,essv5059888,essv5153589,essv5114266,essv5120741,essv5048093,essv5151040,essv5082419,essv5104736,essv5074427,essv5083378,essv5084431,essv5051198,essv5129665,essv5060605,essv5076332,essv5034842,essv5015394,essv5146439,essv5095058,essv5062481,essv5072739,essv5044800,essv5054756,essv5029782,essv5146879,essv5159394,essv5137629,essv5097762,essv5121745,essv5149305,essv5150613,essv5033607,essv5109797,essv5030992,essv5159977,essv5155836,essv5075092,essv5099623,essv5035472,essv5094135,essv5033824,essv5127211,essv5159815,essv5114366,essv5026336,essv5080705,essv5115113,essv5040043,essv5117417,essv5023976,essv5096433,essv5151044,essv5126149,essv5051960,essv5108910,essv5154698,essv5015882,essv5013191,essv5114327,essv5059013,essv5123185,essv5151481,essv5054179,essv5097882,essv5022160,essv5134039,essv5077363,essv5151770,essv5121742,essv5098566,essv5028168,essv5072844,essv5025781,essv5147358,essv5150327,essv5076687,essv5006780,essv5043734,essv5005688,essv5059880,essv5037921,essv5121677,essv5063165,essv5047640,essv5092886,essv5074637,essv5087079,essv5129501,essv5030873,essv5051390,essv5111727,essv5034004,essv5116871,essv5093870,essv5095650,essv5020993,essv5152134,essv5016867,essv5135184,essv5065300,essv5065851,essv5049478,essv5002252,essv5025428,essv5135688,essv5002504,essv5052788,essv5091994,essv5051260,essv5063055,essv5096281,essv5150552,essv5028921,essv5057077,essv5063109,essv5044795,essv5119491,essv5107499,essv5056587,essv5147872,essv5119906,essv5103818,essv5074144,essv5007647,essv5057212,essv5133974,essv5033419,essv5021766,essv5107976,essv5039198,essv5081716,essv5050384,essv5145368,essv5134715,essv5071084,essv5077193,essv5149935,essv5105440,essv5072530,essv5088741,essv5150636,essv5155171,essv5130833,essv5061749,essv5137573,essv5048246,essv5126708,essv5126369,essv5128160,essv5106987,essv5013255,essv5059368,essv5135534,essv5011335,essv5125842,essv5113724,essv5046683,essv5055008,essv5058271,essv5132611,essv5050146,essv5114702,essv5051259,essv5011137,essv5102422,essv5053990,essv5037075,essv5043317,essv5113627,essv5018445,essv5016733,essv5032198,essv5104121,essv5131113,essv5128710,essv5014494,essv5013168,essv5039461,essv5063365,essv5067018,essv5002209,essv5104484,essv5006293,essv5004213,essv5122484,essv5058160,essv5140217,essv5041889,essv5081042,essv5142263,essv5128916,essv5130671,essv5139939,essv5140000,essv5050227,essv5107540,essv5148060,essv5156054,essv5043512,essv5013063,essv5093927,essv5129238,essv5087542,essv5058167,essv5015457,essv5052740,essv5119468,essv5144530,essv5135432,essv5111577,essv5025175,essv5082339,essv5118654,essv5054202,essv5072140,essv5074956,essv5145249,essv5004856,essv5034406,essv5088762,essv5101569,essv5088825,essv5143703,essv5089875,essv5107171,essv5113301,essv5111749,essv5114915,essv5001980,essv5061361,essv5121068,essv5045677,essv5087092,essv5003230,essv5085923,essv5149941,essv5138876,essv5073661,essv5082312,essv5125273,essv5014214,essv5115971,essv5142669,essv5071030,essv5144900,essv5125197,essv5016943,essv5123276,essv5080714,essv5141392,essv5088357,essv5108197,essv5137078,essv5023301,essv5119055,essv5160553,essv5141181,essv5142110,essv5108781,essv5087066,essv5006824,essv5083762,essv5132356,essv5041278,essv5088199,essv5081451,essv5053725,essv5134476,essv5017148,essv5159041,essv5079936,essv5049101,essv5080612,essv5103502,essv5042400,essv5125306,essv5004503,essv5057024,essv5091417,essv5126649,essv5088005,essv5143267,essv5142433,essv5083846,essv5015926,essv5088444,essv5072558,essv5112882,essv5134239,essv5135984,essv5048397,essv5064085,essv5114227,essv5012073,essv5116963,essv5133976,essv5072291,essv5013107,essv5134489,essv5049917,essv5076262,essv5049612,essv5156843,essv5067201,essv5118860,essv5014314,essv5107642,essv5039246,essv5090137,essv5137985,essv5035351,essv5059505,essv5094009,essv5087609,essv5038874,essv5124845,essv5128878,essv5015338,essv5063430,essv5148017,essv5125885,essv5139457,essv5031133,essv5134243,essv5006676,essv5046559,essv5010196,essv5151327,essv5108320,essv5118527,essv5125827,essv5115185,essv5081281,essv5157807,essv5079154,essv5049875,essv5035651,essv5034024,essv5031442,essv5080157,essv5070384,essv5002694,essv5085097,essv5148842,essv5013795,essv5098506,essv5072119,essv5089854,essv5121271,essv5061388,essv5085218,essv5019003,essv5091290,essv5042192,essv5082114,essv5141825,essv5046060,essv5109701,essv5136161,essv5134232,essv5038503,essv5104792,essv5045003,essv5019573,essv5123101,essv5061915,essv5144016,essv5114428,essv5148255,essv5016182,essv5118245,essv5109891,essv5154042,essv5157219,essv5014720,essv5104626,essv5152701,essv5021593,essv5077934,essv5129476,essv5156481,essv5071837,essv5129137,essv5007642,essv5032243,essv5047060,essv5049539,essv5112894,essv5070809,essv5098827,essv5136718,essv5146079,essv5144833,essv5024139,essv5069197,essv5007969,essv5102972,essv5139750,essv5063465,essv5050515,essv5131040,essv5138176,essv5154430,essv5067845,essv5095108,essv5013352,essv5123657,essv5035361,essv5070020,essv5074569,essv5107462,essv5049240,essv5007494,essv5124275,essv5104965,essv5066163,essv5052473,essv5050895,essv5067585,essv5027595,essv5035118,essv5095214,essv5035448,essv5159658,essv5115261,essv5127507,essv5152736,essv5055109,essv5121678,essv5077694,essv5068461,essv5159192,essv5135952,essv5100650,essv5134043,essv5051903,essv5159199,essv5143786,essv5036699,essv5128799,essv5056876,essv5077771,essv5112856,essv5143542,essv5084411,essv5009532,essv5123472,essv5035016,essv5120152,essv5136284,essv5104093,essv5115403,essv5139067,essv5068296,essv5086618,essv5130088,essv5069377,essv5121358,essv5020695,essv5017151,essv5022958,essv5023807,essv5075372,essv5032746,essv5145642,essv5135813,essv5117253,essv5073307,essv5121831,essv5127899,essv5061993,essv5113253,essv5135441,essv5133846,essv5090510,essv5062785,essv5064091,essv5034993,essv5137501,essv5065943,essv5158470,essv5010849,essv5013158,essv5039771,essv5081319,essv5097459,essv5012702,essv5078986,essv5056070,essv5131789,essv5087157,essv5132090,essv5002554,essv5122388,essv5016474,essv5049906,essv5042534,essv5076776,essv5074921,essv5036187,essv5109648,essv5141271,essv5147792,essv5012291,essv5071953,essv5094249,essv5119412,essv5095616,essv5009113,essv5018276,essv5144435,essv5099882,essv5104868,essv5102668,essv5098366,essv5063556,essv5056765,essv5122534,essv5037536,essv5016722,essv5065224,essv5030777,essv5012521,essv5041195,essv5100950,essv5076129,essv5007641,essv5121190,essv5091183,essv5101785,essv5140035,essv5134120,essv5075434,essv5083222,essv5091853,essv5120682,essv5125233,essv5036016,essv5154472,essv5004177,essv5104294,essv5067907,essv5108524,essv5010354,essv5124031,essv5149674,essv5014108,essv5081321,essv5003205,essv5087247,essv5149727,essv5040626,essv5015993,essv5138550,essv5018072,essv5004214,essv5027905,essv5007827,essv5064484,essv5127792,essv5068625,essv5002345,essv5146571,essv5149185,essv5109750,essv5012405,essv5124814,essv5123008,essv5082561,essv5003397,essv5044845,essv5100864,essv5045953,essv5048480,essv5132779,essv5045708,essv5122640,essv5157055,essv5140568,essv5117528,essv5137447,essv5002467,essv5078933,essv5131551,essv5035398,essv5009833,essv5126879,essv5029477,essv5011802,essv5008477,essv5050335,essv5135336,essv5008127,essv5074749,essv5122353,essv5101577,essv5001903,essv5046961,essv5003621,essv5021897,essv5119581,essv5121121,essv5024257,essv5145982,essv5115468,essv5057778,essv5144613,essv5044890,essv5111101,essv5071353,essv5029559,essv5116469,essv5079912,essv5046435,essv5082191,essv5027336,essv5125668,essv5053320,essv5121555,essv5103564,essv5088845,essv5042492,essv5085885,essv5125132,essv5007456,essv5107557,essv5102605,essv5088831,essv5052644,essv5118853,essv5148492,essv5081374,essv5012072,essv5116369,essv5158118,essv5036856,essv5147548,essv5154629,essv5124631,essv5093292,essv5004258,essv5122449,essv5067290,essv5013146,essv5138290,essv5124904,essv5081122,essv5045247,essv5158682,essv5035790,essv5002831,essv5005832,essv5050797,essv5050264,essv5075667,essv5080364,essv5073136,essv5050941,essv5049486,essv5074598,essv5132980,essv5066150,essv5009423,essv5129857,essv5032264,essv5145041,essv5077741,essv5149833,essv5147040,essv5014531,essv5047666,essv5119421,essv5061569,essv5153929,essv5109404,essv5012995,essv5117645,essv5083763,essv5049150,essv5031294,essv5059346,essv5014206,essv5046587,essv5058139,essv5124368,essv5012136,essv5080309,essv5059666,essv5094539,essv5121305,essv5127496,essv5076155,essv5055301,essv5135398,essv5098025,essv5081096,essv5089308,essv5030825,essv5087803,essv5129423,essv5120683,essv5043817,essv5099675,essv5079224,essv5025479,essv5023310,essv5005636,essv5002940,essv5157471,essv5126904,essv5142072,essv5068723,essv5004790,essv5099073,essv5072437,essv5154611,essv5135514,essv5149668,essv5067098,essv5076553,essv5130705,essv5056901,essv5114149,essv5125819,essv5009823,essv5045009,essv5120307,essv5008845,essv5016866,essv5106099,essv5138544,essv5071080,essv5099788,essv5058172,essv5127249,essv5131459,essv5007001,essv5061578,essv5116565,essv5110477,essv5148029,essv5021935,essv5114062,essv5077888,essv5012391,essv5043404,essv5066747,essv5111780,essv5056553,essv5052471,essv5059906,essv5003943,essv5010033,essv5088996,essv5156199,essv5155399,essv5122752,essv5133682,essv5024800,essv5008726,essv5152090,essv5060064,essv5089384,essv5159669,essv5088573,essv5113150,essv5146247,essv5097490,essv5025805,essv5063693,essv5156712,essv5043160,essv5120954,essv5159057,essv5114350,essv5129467 M 1184 0 931 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10846,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12890,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18497,NA18499,NA18500,NA18501,NA18508,NA18516,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18859,NA18860,NA18871,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19036,NA19038,NA19041,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19095,NA19097,NA19098,NA19099,NA19102,NA19103,NA19107,NA19113,NA19114,NA19118,NA19119,NA19127,NA19128,NA19129,NA19137,NA19139,NA19140,NA19142,NA19143,NA19144,NA19147,NA19148,NA19149,NA19150,NA19175,NA19179,NA19180,NA19182,NA19190,NA19197,NA19200,NA19202,NA19203,NA19206,NA19207,NA19208,NA19210,NA19221,NA19223,NA19224,NA19225,NA19238,NA19239,NA19240,NA19314,NA19315,NA19316,NA19321,NA19324,NA19327,NA19328,NA19332,NA19346,NA19347,NA19350,NA19352,NA19360,NA19372,NA19380,NA19381,NA19382,NA19383,NA19391,NA19393,NA19394,NA19398,NA19403,NA19404,NA19428,NA19430,NA19431,NA19434,NA19436,NA19438,NA19440,NA19443,NA19444,NA19445,NA19448,NA19449,NA19451,NA19452,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19679,NA19681,NA19682,NA19683,NA19684,NA19700,NA19701,NA19702,NA19703,NA19705,NA19708,NA19711,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19904,NA19908,NA19909,NA19915,NA19916,NA19918,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20279,NA20281,NA20282,NA20287,NA20289,NA20290,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20342,NA20343,NA20346,NA20347,NA20348,NA20350,NA20356,NA20357,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20872,NA20873,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21098,NA21099,NA21100,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21302,NA21303,NA21307,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21318,NA21320,NA21333,NA21336,NA21344,NA21352,NA21355,NA21356,NA21357,NA21359,NA21360,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21379,NA21384,NA21386,NA21387,NA21388,NA21389,NA21391,NA21402,NA21404,NA21405,NA21415,NA21417,NA21418,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21473,NA21475,NA21476,NA21477,NA21478,NA21485,NA21487,NA21488,NA21489,NA21491,NA21509,NA21512,NA21517,NA21519,NA21521,NA21523,NA21525,NA21528,NA21529,NA21573,NA21576,NA21577,NA21578,NA21582,NA21583,NA21587,NA21597,NA21600,NA21608,NA21611,NA21615,NA21616,NA21617,NA21620,NA21632,NA21634,NA21647,NA21648,NA21650,NA21682,NA21685,NA21722,NA21723,NA21738,NA21739,NA21741,NA21768,NA21784,NA21825,NA21826 nsv819489 4 172612123 172616260 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419606 S 2 0 1 "" AK1 dgv909n67 4 172613089 172615946 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822835,nsv822834,nsv822831,nsv822830,nsv822833 M 31 0 27 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv514271 4 172613408 172614960 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627713 S 1414 0 1 "" nsv881422 4 172614184 172722907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575914 S 6533 0 1 "" IS33839 nsv526416 4 172641670 172730808 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702716 S 2026 0 1 "" esv28969 4 172725993 172728876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20764 S 451 0 2 "" NA18909,NA19108 esv274426 4 172797152 172798033 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580046 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 nsv881310 4 172870553 172988097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526037 S 6533 0 1 GALNTL6 SP56956 esv28376 4 172882290 172888352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18448 S 451 0 1 "" NA18916 nsv527739 4 173008580 173052775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704223 S 2026 0 1 GALNTL6 nsv881602 4 173008580 173104487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575574 S 6533 0 1 GALNTL6 IS33776 nsv520744 4 173034336 173134178 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697586 S 2026 1 0 GALNTL6 nsv519578 4 173078994 173095187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656953,nssv657864,nssv661352,nssv683826,nssv686366 M 2026 0 5 GALNTL6 nsv819975 4 173080934 173084408 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419550 S 2 0 1 GALNTL6 AK1 nsv822836 4 173104652 173105203 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438791 S 31 0 1 GALNTL6 NA18973 nsv830152 4 173142939 173323642 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444078 S 95 0 1 GALNTL6 nsv880759 4 173151334 173194308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561249 S 6533 0 1 GALNTL6 MS24897 nsv525324 4 173181500 173218118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701434 S 2026 0 1 GALNTL6 nsv881219 4 173182862 173260663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590865,nssv1587600,nssv1581177,nssv1589072 M 6533 0 4 GALNTL6 IS35523,IS38069,IS38293,IS38598 nsv4605 4 173201807 173250022 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9651,nssv8030,nssv429 M 9 0 3 GALNTL6 NA12156,NA18507,NA19240 nsv437950 4 173210155 173227547 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468690,nssv468686,nssv468671,nssv468681,nssv468691,nssv468680,nssv468676,nssv468679,nssv468683,nssv468687,nssv468677,nssv468669,nssv468689,nssv468668,nssv468678,nssv468692,nssv468675,nssv468672,nssv468670,nssv468673,nssv468694,nssv468682,nssv468688,nssv468695,nssv468684,nssv468693 M 269 0 25 Samples from several populations that are part of the HapMap project. GALNTL6 NA06991,NA06993,NA07034,NA07048,NA07055,NA10835,NA10857,NA10863,NA12145,NA12155,NA12234,NA12236,NA12239,NA12249,NA12264,NA12753,NA12760,NA12762,NA12864,NA12875,NA12892,NA18558,NA18620,NA18632,NA19005 nsv508332 4 173222261 173238346 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617503 S 4 0 1 GALNTL6 CHM nsv819440 4 173223201 173230005 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419793 S 2 0 1 GALNTL6 AK1 esv2607011 4 173223786 173230080 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315194 S 1 0 1 GALNTL6 NA18507 esv2421911 4 173224311 173229756 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5009002,essv5061797,essv5125729,essv5071829,essv5063995,essv5064947,essv5086539,essv5096019,essv5019792,essv5085631,essv5120060,essv5005467,essv5089279,essv5045230,essv5062135,essv5151960,essv5089361,essv5125055,essv5132651,essv5050203,essv5094168,essv5072292,essv5072673,essv5139390,essv5041811,essv5157695,essv5123247,essv5095162,essv5151299,essv5158822,essv5021965,essv5063078,essv5049265,essv5105469,essv5108961,essv5160222,essv5098686,essv5110349,essv5105809,essv5008154,essv5105850,essv5137038,essv5024579,essv5006397,essv5015413,essv5127644,essv5026224,essv5020147,essv5052998,essv5088138,essv5003603,essv5019644,essv5098237,essv5022631,essv5025611,essv5018428,essv5094112,essv5047026,essv5053679,essv5059044,essv5141506,essv5137856,essv5021987,essv5034675,essv5125042,essv5047159,essv5071749,essv5132944,essv5105631,essv5084592,essv5040279,essv5024851,essv5073312,essv5119522,essv5107153,essv5130806,essv5005812,essv5122962,essv5055452,essv5110518,essv5111539,essv5076482,essv5125318,essv5136245,essv5132197,essv5075537,essv5155072,essv5153070,essv5126036,essv5139404,essv5157887,essv5159497,essv5090821,essv5114308,essv5140503,essv5044932,essv5046994,essv5087815,essv5050843,essv5088063,essv5085374,essv5050249,essv5078584,essv5027846,essv5065504,essv5086191,essv5047990,essv5124752,essv5091020,essv5133927,essv5150230,essv5023520,essv5145305,essv5047339,essv5132773,essv5075384,essv5061894,essv5049667,essv5151736,essv5048556,essv5077727,essv5045849,essv5049030,essv5152815,essv5060203,essv5142540,essv5128561,essv5023939,essv5071601,essv5051601,essv5040546,essv5039423,essv5157214,essv5161074,essv5027792,essv5046112,essv5138960,essv5014561,essv5043544,essv5120837,essv5148818,essv5031505,essv5049224,essv5092486,essv5059524,essv5093573,essv5084126,essv5058537,essv5071940,essv5048967,essv5085507,essv5096271,essv5012102,essv5108884,essv5025785,essv5155717,essv5152439,essv5122529,essv5043445,essv5107035,essv5127124,essv5120102,essv5123251,essv5159417,essv5034589,essv5146928,essv5025125,essv5014228,essv5034245,essv5091027,essv5067427,essv5097042,essv5043009,essv5013440,essv5028713,essv5084206,essv5011141,essv5110612,essv5151802,essv5147559,essv5050522,essv5133119,essv5071832,essv5045457,essv5053978,essv5039956,essv5100372,essv5064450,essv5007247,essv5032711,essv5012997,essv5156363,essv5140639,essv5031619,essv5018188,essv5005905,essv5122097,essv5154400,essv5021774,essv5049687,essv5058896,essv5061627,essv5017701,essv5099486,essv5138458,essv5086628,essv5086709,essv5063846,essv5061853,essv5037830,essv5132031,essv5125499,essv5156604,essv5150982,essv5120044,essv5046277,essv5138756,essv5011437,essv5131004,essv5011546,essv5146204,essv5008864,essv5077053,essv5012258,essv5105449,essv5026925,essv5002833,essv5040359,essv5106821,essv5110801,essv5082064,essv5048416,essv5008246,essv5126965,essv5069384,essv5059025,essv5099021,essv5065558,essv5036995,essv5151693,essv5007366,essv5104427,essv5068965,essv5045265,essv5066613,essv5008905,essv5045225,essv5116392,essv5135319,essv5054644,essv5116814,essv5116433,essv5160132,essv5149969,essv5037579,essv5131731,essv5034095,essv5047633,essv5123499,essv5101612,essv5131679,essv5046663,essv5007997,essv5038689,essv5041552,essv5016334,essv5070846,essv5151825,essv5098368,essv5076838,essv5028284,essv5063911,essv5027406,essv5153663,essv5052266,essv5072767,essv5147128,essv5136468,essv5027855,essv5026587,essv5021500,essv5077773,essv5104501,essv5037809,essv5146968,essv5098717,essv5008981,essv5144178,essv5016557,essv5099491,essv5049362,essv5030216,essv5057238,essv5159299,essv5042197,essv5009121,essv5106312,essv5045253,essv5139121,essv5055289,essv5020556,essv5043003,essv5062004,essv5028674,essv5097359,essv5111547,essv5041637,essv5032177,essv5092215,essv5002972,essv5116837,essv5059260,essv5012280,essv5047023,essv5075176,essv5063964,essv5116048,essv5091651,essv5080063,essv5033261,essv5082596,essv5011228,essv5152810,essv5033668,essv5068933,essv5132087,essv5079075,essv5091367,essv5089567,essv5013122,essv5005041,essv5092810,essv5154186,essv5078104,essv5023973,essv5155212,essv5151162,essv5027991,essv5130208,essv5148231,essv5100364,essv5057703,essv5130912,essv5111887,essv5150383,essv5062224,essv5120686,essv5123345,essv5072659,essv5042241,essv5141118,essv5025789,essv5079087,essv5066197,essv5012453,essv5014482,essv5070969,essv5100449,essv5155155,essv5008347,essv5144552,essv5041621,essv5013094,essv5022480,essv5105267,essv5028647,essv5148115,essv5055457,essv5118466,essv5135017,essv5035510,essv5061509,essv5130199,essv5052048,essv5130548,essv5022747,essv5087470,essv5085020,essv5004008,essv5113799,essv5159801,essv5073994,essv5124387,essv5002547,essv5155025,essv5149415,essv5144320,essv5079698,essv5157132,essv5118942,essv5136313,essv5114516,essv5015154,essv5141466,essv5142047,essv5119567,essv5062738,essv5014352,essv5117495,essv5054812,essv5004107,essv5134062,essv5070420,essv5142575,essv5085866,essv5095533,essv5100722,essv5017674,essv5159580,essv5100635,essv5097747,essv5077576,essv5098278,essv5071920,essv5043019,essv5088152,essv5093749,essv5096104,essv5113372,essv5006179,essv5055342,essv5052240,essv5032927,essv5125212,essv5119222,essv5092112,essv5022912,essv5149422,essv5023724,essv5017095,essv5043889,essv5037693,essv5060306,essv5016410,essv5029409,essv5124080,essv5078847,essv5160013,essv5126839,essv5029735,essv5063329,essv5046738,essv5089784,essv5151325,essv5094602,essv5141390,essv5040084,essv5071284,essv5086278,essv5035219,essv5138665,essv5017144,essv5025299,essv5120109,essv5080332,essv5012561,essv5094068,essv5094799,essv5149761,essv5157431,essv5135898,essv5002388,essv5100842,essv5103437,essv5146209,essv5027002,essv5020959,essv5115655,essv5012381,essv5143570,essv5091025,essv5018879,essv5082792,essv5101185,essv5060814,essv5080302,essv5007658,essv5102280,essv5132049,essv5147419,essv5063718,essv5096018,essv5115937,essv5059999,essv5055927,essv5136045,essv5107457,essv5075799,essv5006393,essv5067086,essv5055908,essv5108722,essv5124190,essv5126392,essv5134315,essv5126447,essv5055074,essv5160581,essv5102390,essv5124766,essv5153957,essv5011210,essv5111981,essv5153385,essv5039389,essv5114464,essv5098431,essv5135947,essv5015554,essv5147161,essv5023910,essv5003071,essv5084382,essv5130064,essv5022477,essv5134784,essv5146887,essv5053770,essv5129716,essv5086883,essv5143809,essv5064501,essv5086759,essv5081346,essv5123371,essv5047962,essv5153044,essv5066493,essv5127427,essv5116576,essv5127333,essv5063158,essv5089233,essv5060847,essv5028141,essv5084109,essv5061314,essv5054469,essv5032028,essv5140479,essv5140548,essv5005818,essv5114758,essv5044224,essv5141072,essv5087463,essv5026190,essv5075872,essv5075463,essv5145650,essv5053671,essv5148397,essv5158321,essv5142675,essv5022020,essv5048791,essv5079289,essv5049621,essv5138723,essv5057921,essv5061030,essv5099189,essv5101594,essv5021210,essv5127210,essv5082780,essv5041508,essv5025626,essv5034330,essv5008646,essv5112687,essv5082092,essv5144644,essv5124073,essv5107104,essv5066942,essv5141982,essv5133995,essv5113740,essv5007115,essv5139466,essv5068315,essv5154144,essv5043993,essv5002169,essv5037260,essv5099812,essv5105206,essv5015622,essv5141654,essv5105431,essv5063188,essv5096171,essv5013614,essv5037526,essv5116535,essv5100327,essv5121218,essv5115424,essv5017423,essv5137713,essv5028867,essv5116128,essv5038000,essv5030864,essv5057034,essv5081834,essv5043505,essv5127222,essv5075804,essv5009734,essv5081653,essv5011927,essv5043044,essv5024728,essv5023348,essv5002068,essv5058859,essv5065955,essv5154727,essv5081167,essv5038656,essv5027432,essv5015846,essv5064740,essv5101266,essv5151772,essv5053262,essv5031458,essv5104100,essv5112599,essv5058491,essv5030029,essv5041938,essv5153710,essv5160676,essv5092768,essv5104254,essv5138846,essv5104242,essv5116346,essv5070233,essv5090550,essv5051938,essv5099288,essv5070985,essv5003016,essv5115975,essv5024105,essv5125594,essv5019509,essv5056871,essv5110044,essv5153825,essv5010802,essv5158169,essv5050923,essv5107077,essv5056869,essv5147146,essv5002352,essv5031982,essv5155825,essv5014978,essv5141053,essv5040532,essv5101136,essv5116345,essv5078041,essv5033501,essv5070388,essv5026315,essv5127830,essv5048636,essv5131294,essv5087541,essv5107125,essv5040747,essv5110249,essv5105665,essv5105230,essv5036964,essv5071866,essv5105303,essv5044821,essv5090513,essv5038289,essv5057862,essv5127680,essv5026320,essv5055643,essv5055231,essv5034301,essv5047718,essv5156962,essv5155311,essv5010671,essv5049731,essv5073695,essv5074095,essv5034746,essv5091337,essv5034192,essv5079905,essv5003458,essv5122702,essv5071243,essv5032840,essv5010868,essv5039221,essv5129771,essv5136158,essv5007095,essv5074194,essv5063947,essv5045223,essv5150578,essv5032116,essv5153142,essv5102425,essv5107590,essv5034294,essv5102948,essv5151557,essv5076907,essv5064140,essv5126650,essv5063657,essv5095950,essv5053158,essv5012979,essv5160639,essv5104075,essv5155844,essv5038811,essv5065801,essv5071356,essv5037193,essv5053741,essv5078779,essv5032115,essv5067756,essv5104510,essv5058278,essv5056439,essv5085281,essv5110236,essv5026908,essv5028516,essv5067623,essv5030993,essv5003513,essv5062047,essv5145284,essv5128796,essv5056591,essv5047761,essv5150235,essv5086659,essv5021808,essv5024604,essv5011032,essv5159168,essv5083922,essv5068054,essv5125394,essv5141366,essv5156088,essv5054183,essv5093655 M 1184 0 770 GALNTL6 NA06984,NA06985,NA06991,NA06993,NA06994,NA06995,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07345,NA07346,NA07347,NA07348,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10852,NA10853,NA10856,NA10859,NA10863,NA10864,NA10865,NA11829,NA11830,NA11832,NA11839,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11994,NA11995,NA12006,NA12043,NA12044,NA12056,NA12144,NA12145,NA12154,NA12155,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12283,NA12286,NA12287,NA12335,NA12340,NA12342,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12802,NA12812,NA12814,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12890,NA12892,NA17962,NA17968,NA17969,NA17974,NA17976,NA17977,NA17980,NA17981,NA17983,NA17988,NA17990,NA17993,NA17995,NA17996,NA18105,NA18112,NA18114,NA18117,NA18122,NA18125,NA18135,NA18138,NA18139,NA18141,NA18146,NA18147,NA18150,NA18152,NA18157,NA18158,NA18159,NA18161,NA18162,NA18484,NA18485,NA18486,NA18487,NA18497,NA18498,NA18499,NA18500,NA18501,NA18505,NA18506,NA18507,NA18508,NA18510,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18529,NA18532,NA18545,NA18548,NA18550,NA18558,NA18564,NA18573,NA18579,NA18594,NA18596,NA18603,NA18609,NA18615,NA18620,NA18623,NA18627,NA18630,NA18632,NA18633,NA18638,NA18639,NA18641,NA18670,NA18682,NA18689,NA18696,NA18702,NA18740,NA18745,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18912,NA18913,NA18916,NA18917,NA18923,NA18930,NA18933,NA18934,NA18935,NA18946,NA18948,NA18949,NA18951,NA18954,NA18961,NA18964,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18978,NA18979,NA18987,NA18994,NA18995,NA19005,NA19027,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19055,NA19057,NA19067,NA19068,NA19077,NA19078,NA19079,NA19086,NA19095,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19115,NA19117,NA19118,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19131,NA19138,NA19139,NA19141,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19154,NA19159,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19190,NA19193,NA19197,NA19198,NA19199,NA19200,NA19201,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19213,NA19221,NA19222,NA19226,NA19235,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19307,NA19308,NA19309,NA19310,NA19311,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19375,NA19376,NA19377,NA19381,NA19383,NA19385,NA19390,NA19393,NA19396,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19437,NA19438,NA19439,NA19443,NA19444,NA19446,NA19448,NA19449,NA19452,NA19455,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19662,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19711,NA19712,NA19719,NA19720,NA19721,NA19722,NA19723,NA19725,NA19726,NA19727,NA19747,NA19748,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19782,NA19783,NA19784,NA19789,NA19790,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19902,NA19904,NA19909,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20128,NA20129,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20294,NA20295,NA20297,NA20301,NA20302,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20508,NA20512,NA20515,NA20516,NA20518,NA20520,NA20522,NA20524,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20769,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20803,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20846,NA20847,NA20849,NA20850,NA20852,NA20856,NA20858,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20879,NA20881,NA20882,NA20884,NA20887,NA20889,NA20890,NA20891,NA20892,NA20895,NA20896,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20908,NA20910,NA21088,NA21089,NA21097,NA21098,NA21100,NA21102,NA21103,NA21108,NA21109,NA21111,NA21115,NA21117,NA21118,NA21119,NA21137,NA21142,NA21144,NA21295,NA21297,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21352,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21389,NA21390,NA21391,NA21399,NA21401,NA21403,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21424,NA21425,NA21435,NA21436,NA21438,NA21439,NA21441,NA21448,NA21451,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21480,NA21485,NA21487,NA21489,NA21490,NA21491,NA21494,NA21509,NA21510,NA21517,NA21519,NA21520,NA21522,NA21523,NA21524,NA21526,NA21527,NA21528,NA21573,NA21574,NA21575,NA21578,NA21580,NA21587,NA21596,NA21600,NA21608,NA21615,NA21616,NA21617,NA21631,NA21632,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21722,NA21738,NA21740,NA21768,NA21776 nsv10611 4 173224428 173229998 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11891,nssv12216,nssv11650,nssv13881,nssv12392,nssv13874,nssv12650,nssv14910,nssv14513,nssv13261,nssv12963,nssv12005,nssv13199,nssv12457,nssv13688,nssv12874,nssv12888,nssv13842 M 31 0 18 Samples from several populations that are part of the HapMap project. GALNTL6 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18517,NA18564,NA18853,NA18860,NA18972,NA19173,NA19221,NA19240 esv1011260 4 173224679 173229562 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565253 S 3 0 1 GALNTL6 HuRef nsv436418 4 173224712 173229944 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466171 S 2 0 1 Samples from several populations that are part of the HapMap project. GALNTL6 NA18505 esv2565726 4 173224762 173230295 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217147 S 1 0 1 GALNTL6 NA18507 esv2033228 4 173225041 173229690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738088 S 1 0 1 GALNTL6 NA18507 nsv513180 4 173225140 173229528 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626678 S 1 0 1 GALNTL6 1 esv8153 4 173225164 173229498 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30594 S 1 0 1 GALNTL6 SJK nsv499494 4 173225214 173229507 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585936 S 9 0 1 GALNTL6 nsv289632 4 173225215 173229505 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308210 M 24 GALNTL6 esv27951 4 173225255 173229491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17543 S 451 0 32 GALNTL6 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240,NA19257 nsv822837 4 173225707 173229300 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438117,nssv1440322,nssv1439663,nssv1429768,nssv1425685,nssv1437415,nssv1430551,nssv1441034,nssv1428239,nssv1426624 M 31 0 10 GALNTL6 AK10,AK14,AK16,AK6,NA18547,NA18564,NA18949,NA18951,NA18968,NA18969 nsv514272 4 173225904 173229152 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627715 S 1414 0 1 GALNTL6 nsv433470 4 173226195 173227450 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463351 S 9 0 1 Samples from several populations that are part of the HapMap project. GALNTL6 NA18507 esv33022 4 173227029 173236391 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98927 S 51 1 0 GALNTL6 21606 nsv830153 4 173274581 173448532 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444079 S 95 0 1 GALNTL6 esv2097954 4 173412833 173413255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920939 S 1 0 1 GALNTL6 NA18507 nsv291048 4 173413009 173413062 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309626 M 24 GALNTL6 nsv880416 4 173523997 173624792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598250 S 6533 0 1 GALNTL6 IS41292 nsv4606 4 173560022 173592426 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4796 S 9 1 0 GALNTL6 NA19129 nsv508333 4 173606261 173684250 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622509,nssv619949,nssv618759,nssv617504 M 4 0 4 GALNTL6 CHM,NA10860,NA15510,NA18994 nsv4607 4 173642868 173694163 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2493,nssv9652,nssv3305,nssv10431,nssv11094,nssv7131 M 9 0 6 GALNTL6 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956 nsv10612 4 173651646 173655274 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11680 S 31 0 1 Samples from several populations that are part of the HapMap project. GALNTL6 NA12802 nsv263 4 173654894 173675381 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv263 S 1 0 1 GALNTL6 NA15510 dgv98n16 4 173660140 173670513 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435792,nsv436432 M 2 0 2 GALNTL6 NA15510,NA18505 esv2439458 4 173661082 173672006 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354491 S 1 0 1 GALNTL6 NA18507 dgv46n50 4 173661091 173670418 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513181,nsv511236 M 1 0 1 GALNTL6 1 esv2546113 4 173661150 173670887 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327705 S 1 0 1 GALNTL6 NA18507 nsv10613 4 173661309 173673188 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11921,nssv12993,nssv12406,nssv12377,nssv12285,nssv13904,nssv12566,nssv13291,nssv12918,nssv12246,nssv11659,nssv12904,nssv13947,nssv13229,nssv12745,nssv12744,nssv14543,nssv13872,nssv12322,nssv11710 M 31 2 18 Samples from several populations that are part of the HapMap project. GALNTL6 NA07048,NA10839,NA10863,NA12802,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19240 esv2285591 4 173661454 173670286 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998470 S 1 0 1 GALNTL6 NA18507 esv2421402 4 173661522 173665218 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5098973,essv5045466,essv5066660,essv5044779,essv5129672,essv5099165,essv5058952,essv5116415,essv5138505,essv5148627,essv5018820,essv5108017,essv5082245,essv5117437,essv5056815,essv5134731,essv5070826,essv5074834,essv5086117,essv5100847,essv5139586,essv5046720,essv5125663,essv5022616,essv5022374,essv5094219,essv5036087,essv5063308,essv5016179,essv5067139,essv5099443,essv5090730,essv5068293,essv5034461,essv5093215,essv5050771,essv5135137,essv5036201,essv5076525,essv5136195,essv5013039,essv5156840,essv5156500,essv5087118,essv5142643,essv5053182,essv5066289,essv5063936,essv5074657,essv5142260,essv5028533,essv5010892,essv5077490,essv5073793,essv5097914,essv5110117,essv5034592,essv5039671,essv5116143,essv5115626,essv5138890,essv5079733,essv5041090,essv5105153,essv5084154,essv5105926,essv5072371,essv5106420,essv5107406,essv5048369,essv5003851,essv5078945,essv5158231,essv5032343,essv5015480,essv5108026,essv5114010,essv5091405,essv5050691,essv5007857,essv5023272,essv5115006,essv5099331,essv5145948,essv5010733,essv5078221,essv5053579,essv5136225,essv5143951,essv5052756,essv5033354,essv5091184,essv5122634,essv5115153,essv5157146,essv5026192,essv5108472,essv5076416,essv5052222,essv5057339,essv5117670,essv5061303,essv5147244,essv5158742,essv5103124,essv5148116,essv5010500,essv5018862,essv5002243,essv5159141,essv5053299,essv5086924,essv5010134,essv5063736,essv5124570,essv5151696,essv5045860,essv5049120,essv5086891,essv5028387,essv5002776,essv5031706,essv5086242,essv5089022,essv5077661,essv5081624,essv5135618,essv5009269,essv5015742,essv5007547,essv5018223,essv5120283,essv5095879,essv5156049,essv5063218,essv5119289,essv5159635,essv5141609,essv5068579,essv5032096,essv5120669,essv5030547,essv5154999,essv5044475,essv5090210,essv5148730,essv5048947,essv5071733,essv5149289,essv5086964,essv5019808,essv5049902,essv5146916,essv5012454,essv5105337,essv5118894,essv5063171,essv5108016,essv5140676,essv5116852,essv5084585,essv5059008,essv5100796,essv5145844,essv5046839,essv5020183,essv5137339,essv5035525,essv5023588,essv5021036,essv5125614,essv5134388,essv5013112,essv5135265,essv5078574,essv5138872,essv5088062,essv5067981,essv5130851,essv5047143,essv5065440,essv5107741,essv5009327,essv5006681,essv5094621,essv5019591,essv5055254,essv5075141,essv5011557,essv5142412,essv5003545,essv5009817,essv5119908,essv5120955,essv5073929,essv5119101,essv5139464,essv5028473,essv5131406,essv5141049,essv5137253,essv5059316,essv5149717,essv5122277,essv5064384,essv5037663,essv5054542,essv5048719,essv5127247,essv5067659,essv5037448,essv5093556,essv5035144,essv5133165,essv5009813,essv5072008,essv5154410,essv5078858,essv5103334,essv5081114,essv5031509,essv5135036,essv5112725,essv5046776,essv5110681,essv5079053,essv5048348,essv5056782,essv5036736,essv5159228,essv5140650,essv5027976,essv5066172,essv5136473,essv5017475,essv5013369,essv5002551,essv5132775,essv5100261,essv5029623,essv5026705,essv5005148,essv5125464,essv5112719,essv5119259,essv5085460,essv5093126,essv5051772,essv5139450,essv5095810,essv5020355,essv5120924,essv5013244,essv5040888,essv5069458,essv5152652,essv5125948,essv5002678,essv5022193,essv5052004,essv5072932,essv5063939,essv5149537,essv5009743,essv5079464,essv5054906,essv5080541,essv5105936,essv5040206,essv5028775,essv5135210,essv5154313,essv5135451,essv5146373,essv5096894,essv5039722,essv5035049,essv5014789,essv5158516,essv5072143,essv5153769,essv5147241,essv5117740,essv5158010,essv5054984,essv5095288,essv5042802,essv5021199,essv5121538,essv5132233,essv5043736,essv5123755,essv5148503,essv5078045,essv5056033,essv5152646,essv5015436,essv5085922,essv5085209,essv5084949,essv5101474,essv5136510,essv5102363,essv5043547,essv5071355,essv5008480,essv5089517,essv5021740,essv5023865,essv5141155,essv5126784,essv5133395,essv5006599,essv5069361,essv5006399,essv5133913,essv5132535,essv5020700,essv5042325,essv5015242,essv5058611,essv5091054,essv5083975,essv5084265,essv5016829,essv5091902,essv5076432,essv5139046,essv5017625,essv5108430,essv5065788,essv5046896,essv5110288,essv5018150,essv5007719,essv5061201,essv5021960,essv5037358,essv5091531,essv5103762,essv5088024,essv5026771,essv5157202,essv5082392,essv5034121,essv5078765,essv5064312,essv5021698,essv5082227,essv5104439,essv5036370,essv5086020,essv5066307,essv5157021,essv5042959,essv5033311,essv5136371,essv5008374,essv5154914,essv5144605,essv5011827,essv5089668,essv5037155,essv5036781,essv5134988,essv5071336,essv5020683,essv5130811,essv5072926,essv5151856,essv5100084,essv5124815,essv5121562,essv5155694,essv5035632,essv5062159,essv5031227,essv5053137,essv5121941,essv5040277,essv5007940,essv5090604,essv5116830,essv5136701,essv5002686,essv5028162,essv5144403,essv5090017,essv5128087,essv5151577,essv5084913,essv5075765,essv5086249,essv5019220,essv5078198,essv5027472,essv5092430,essv5088751,essv5067971,essv5035427,essv5105311,essv5036872,essv5063331,essv5063029,essv5144086,essv5153625,essv5041270,essv5105703,essv5113794,essv5123698,essv5008175,essv5129445,essv5010100,essv5136910,essv5043853,essv5114757,essv5038958,essv5063457,essv5138680,essv5147253,essv5015293,essv5067831,essv5034903,essv5100973,essv5038213,essv5029690,essv5160172,essv5065449,essv5130853,essv5136042,essv5014869,essv5123462,essv5048595,essv5115211,essv5152473,essv5062514,essv5136570,essv5012126,essv5033908,essv5146843,essv5019439,essv5110146,essv5035486,essv5005659,essv5017438,essv5007388,essv5077555,essv5097061,essv5065736,essv5128471,essv5142501,essv5115455,essv5155771,essv5017208,essv5103177,essv5053391,essv5116782,essv5055475,essv5018505,essv5150471,essv5035335,essv5128631,essv5103293,essv5021111,essv5016347,essv5154130,essv5081420,essv5088288,essv5100990,essv5115719,essv5087263,essv5053088,essv5104764,essv5003036,essv5116789,essv5044521,essv5072613,essv5135837,essv5057533,essv5074603,essv5028091,essv5139878,essv5102913,essv5040915,essv5150702,essv5161187,essv5101175,essv5141270,essv5080232,essv5132793,essv5033074,essv5100359,essv5025930,essv5160754,essv5146071,essv5132764,essv5129055,essv5066408,essv5129706,essv5157630,essv5112464,essv5155065,essv5144930,essv5136321,essv5038457,essv5031416,essv5047332,essv5120923,essv5064330,essv5118925,essv5126339,essv5067031,essv5005996,essv5006317,essv5089462,essv5090791,essv5060540,essv5158137,essv5112510,essv5059413,essv5020524,essv5094596,essv5029834,essv5091192,essv5033064,essv5127810,essv5059430,essv5024169,essv5155508,essv5107791,essv5032973,essv5124872,essv5144593,essv5129691,essv5099778,essv5084282,essv5152235,essv5019149,essv5158899,essv5020797,essv5110722,essv5039998,essv5043306,essv5094417,essv5096080,essv5010220,essv5030884,essv5077106,essv5102302,essv5071449,essv5018350,essv5136555,essv5040338,essv5012244,essv5085830,essv5062329,essv5090697,essv5146963,essv5086711,essv5053001,essv5012980,essv5087234,essv5088476,essv5096025,essv5019348,essv5009266,essv5013921,essv5016678,essv5143797,essv5107899,essv5091200,essv5142057,essv5042867,essv5051345,essv5078722,essv5087989,essv5057529,essv5022812,essv5150024,essv5151563,essv5070284,essv5096616,essv5071849,essv5150553,essv5090876,essv5036597,essv5051346,essv5008166,essv5010410,essv5107892,essv5142903,essv5012326,essv5084058,essv5147660,essv5045366,essv5102817,essv5030619,essv5007632,essv5077787,essv5116348,essv5088690,essv5061286,essv5025295,essv5059141,essv5081875,essv5037639,essv5108370,essv5139569,essv5093154,essv5153819,essv5131159,essv5045191,essv5150631,essv5132273,essv5104113,essv5145403,essv5038684,essv5115467,essv5104710,essv5005122,essv5040120,essv5158690,essv5112708,essv5109038,essv5110893,essv5077989,essv5066374,essv5008771,essv5069110,essv5092239,essv5017614,essv5064797,essv5159279,essv5087379,essv5059014,essv5062683,essv5025062,essv5026140,essv5124935,essv5027858,essv5064031,essv5109158,essv5050363,essv5065843,essv5099905,essv5019763,essv5040398,essv5042976,essv5134233,essv5083108,essv5077709,essv5106678,essv5152104,essv5003072,essv5106971,essv5154058,essv5088214,essv5088821,essv5140916,essv5075191,essv5005515,essv5078996,essv5131718,essv5125127,essv5069468,essv5126858,essv5130360,essv5161108,essv5048951,essv5090176,essv5072606,essv5104768,essv5069027,essv5064382,essv5016561,essv5118364,essv5008280,essv5109823,essv5135091,essv5110918,essv5158035,essv5158072,essv5142114,essv5139525,essv5089669,essv5125341,essv5121386,essv5015670,essv5078536,essv5132652,essv5052737,essv5085752,essv5014470,essv5122795,essv5055924,essv5067601,essv5022568,essv5003465,essv5124890,essv5108623,essv5101510,essv5082273,essv5086797,essv5066985,essv5058267,essv5068190,essv5140734,essv5114989,essv5158729,essv5041539,essv5024664,essv5022954,essv5146736,essv5053920,essv5101626,essv5121304,essv5049052,essv5030928,essv5088868,essv5076671,essv5127611,essv5025434,essv5131611,essv5148798,essv5068852,essv5139638,essv5013622,essv5003757,essv5077707,essv5127225,essv5082044,essv5009445,essv5090859,essv5005402,essv5070287,essv5003701,essv5081856,essv5013661,essv5018987,essv5112115,essv5147961,essv5091739,essv5043233,essv5133835,essv5047281,essv5118045,essv5160828,essv5030991,essv5107227,essv5049200,essv5141994,essv5110905,essv5084527,essv5015168,essv5084420,essv5065685,essv5091257,essv5159739,essv5090974,essv5041974,essv5055142,essv5066322,essv5135261,essv5106368,essv5028207,essv5121797,essv5106967,essv5066521,essv5074512,essv5133020,essv5142584,essv5145543,essv5052665,essv5057334,essv5123561,essv5129494,essv5141127,essv5109931,essv5071709,essv5078852,essv5153384,essv5129773,essv5017874,essv5075005,essv5056321,essv5126565,essv5153445,essv5044992,essv5033235,essv5060363,essv5048527,essv5006882,essv5160884,essv5017052,essv5132269,essv5086277,essv5026357,essv5111289,essv5094052,essv5060047,essv5155403,essv5112757,essv5090464,essv5090831,essv5108673,essv5092397,essv5083849,essv5055655,essv5140110,essv5004864,essv5124710,essv5103376,essv5132804,essv5081218,essv5095353,essv5122049,essv5094130,essv5041027,essv5099467,essv5033393,essv5111942,essv5120155,essv5129425,essv5006434,essv5098166,essv5140313,essv5093488,essv5094979,essv5011707,essv5128567,essv5018342,essv5003092,essv5068653,essv5036193,essv5094365,essv5036607,essv5073456,essv5035347,essv5121217,essv5028098,essv5146253,essv5004603,essv5037635,essv5136832,essv5136604,essv5040995,essv5085200,essv5100041,essv5044241,essv5036757,essv5125481,essv5126558,essv5139084,essv5124474,essv5048680,essv5077488,essv5027490,essv5114289,essv5146564,essv5155005,essv5063450,essv5070329,essv5137700,essv5156396,essv5006646,essv5113306,essv5016398,essv5050419,essv5014473,essv5136527,essv5045930,essv5145348,essv5128548,essv5096514,essv5033602,essv5052608,essv5059667,essv5042052,essv5152399,essv5085769,essv5099850,essv5121156,essv5154669,essv5134944,essv5098580,essv5107919,essv5157974,essv5014093,essv5028503,essv5085124,essv5096587,essv5097547,essv5089508,essv5136466,essv5092663,essv5051379,essv5058428,essv5073908,essv5006239,essv5121424,essv5021497,essv5096804,essv5053944,essv5099805,essv5050735,essv5096277,essv5077861,essv5002370,essv5084274,essv5097265,essv5159770,essv5092241,essv5133391,essv5091026,essv5136075,essv5102457,essv5028159,essv5033760,essv5126382,essv5072495,essv5068037,essv5087967,essv5034954,essv5077325,essv5096609,essv5124793,essv5021745,essv5086140,essv5002613,essv5066331,essv5155184,essv5047113,essv5080716,essv5020673,essv5098642,essv5055693,essv5122546,essv5028707,essv5062884,essv5034917,essv5120908,essv5065507,essv5034197,essv5038157,essv5038972,essv5160317,essv5096101,essv5130956,essv5135563,essv5074668,essv5130368,essv5040774,essv5160010,essv5051305,essv5080324,essv5103085,essv5060438,essv5011830,essv5078501,essv5063080,essv5145946,essv5094610,essv5009172,essv5053518,essv5090833,essv5042019,essv5060403,essv5128363,essv5096357,essv5086857,essv5013054,essv5132542,essv5160098,essv5154335,essv5098690,essv5078636,essv5068839,essv5035021,essv5085850,essv5147338,essv5012379,essv5072061,essv5143031,essv5094510,essv5007434,essv5051410,essv5145372,essv5126269,essv5112138,essv5082578,essv5133342,essv5037595,essv5082066,essv5103378,essv5113230,essv5019695,essv5138065,essv5131719,essv5145045,essv5015906,essv5149943,essv5087202,essv5002294,essv5155682,essv5068755,essv5067118,essv5124394,essv5040660,essv5017737,essv5083317,essv5111394,essv5082167,essv5094769,essv5127763,essv5084217,essv5010160,essv5039580,essv5083095,essv5065496,essv5107877,essv5126111,essv5040596,essv5093630,essv5076192,essv5068108,essv5129076,essv5049202,essv5006379,essv5109942,essv5147979,essv5129009,essv5072074,essv5002876,essv5128332,essv5067116,essv5131488,essv5071470,essv5080546,essv5105382,essv5012895,essv5103515,essv5022005,essv5139527,essv5059024,essv5015673,essv5127521,essv5122326,essv5036983,essv5026102,essv5056962,essv5050804,essv5004866,essv5122381,essv5005315,essv5017319,essv5113142,essv5125362,essv5045843,essv5034408,essv5031843,essv5038783,essv5051354,essv5128382,essv5116983,essv5055909,essv5121106,essv5144156,essv5041607,essv5153214,essv5129871,essv5009672,essv5125094,essv5090929,essv5024807,essv5109459,essv5015492,essv5085594,essv5129554,essv5079986,essv5156828,essv5091100,essv5010473,essv5144487,essv5095387,essv5008822,essv5040126,essv5044065,essv5126304,essv5124979,essv5144221,essv5083220,essv5040150,essv5026029,essv5091469,essv5081627,essv5137518,essv5020944,essv5121663,essv5118627,essv5052319,essv5142459,essv5040832,essv5057450,essv5009886,essv5122924,essv5013186 M 1184 0 1106 GALNTL6 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18486,NA18487,NA18488,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18855,NA18857,NA18858,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18875,NA18909,NA18910,NA18911,NA18912,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18934,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19107,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19178,NA19179,NA19180,NA19181,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19202,NA19203,NA19206,NA19207,NA19208,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19226,NA19235,NA19236,NA19237,NA19239,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19391,NA19393,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19436,NA19437,NA19440,NA19443,NA19444,NA19445,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19466,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21421,NA21423,NA21434,NA21435,NA21436,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21632,NA21634,NA21635,NA21636,NA21648,NA21650,NA21678,NA21682,NA21683,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21722,NA21723,NA21733,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442931 4 173661522 173665218 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GALNTL6 nsv820239 4 173661555 173669545 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419851 S 2 0 1 GALNTL6 AK1 esv4052 4 173661573 173670298 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26493 S 1 0 1 Single Asian sample YH GALNTL6 YH esv28615 4 173661594 173670645 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18638,esv18508 M 451 5 20 GALNTL6 NA06985,NA07037,NA11931,NA11993,NA12006,NA12156,NA12239,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240,NA19257 nsv821526 4 173661594 173671219 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420460 S 1 0 1 GALNTL6 NA10851 nsv822838 4 173661594 173671219 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429769,nssv1434390 M 31 0 2 GALNTL6 AK14,NA18570 esv8497 4 173661598 173670102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30938 S 1 0 1 GALNTL6 SJK nsv289548 4 173661608 173670094 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308126 M 24 GALNTL6 dgv910n67 4 173661763 173666272 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822840,nsv822839,nsv822841 M 31 0 28 GALNTL6 AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514273 4 173661968 173666128 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627716 S 1414 0 1 GALNTL6 esv33205 4 173685916 173688617 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99905 S 51 0 1 GALNTL6 22086 esv2322806 4 173688486 173688889 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586127 S 1 0 1 GALNTL6 NA18507 nsv290804 4 173704513 173704513 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309382 M 24 GALNTL6 esv1531442 4 173704551 173704551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030864 S 2 1 0 GALNTL6 HuRef esv269548 4 173759481 173759841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512406,essv2509762 M 157 2 0 Samples from several populations that are part of the HapMap project. GALNTL6 NA12043,NA18508 esv1008745 4 173764337 173764404 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569699 S 3 0 1 GALNTL6 HuRef dgv181n6 4 173764338 173764423 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289884,nsv292291 M 24 GALNTL6 esv1235967 4 173764355 173764423 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098726 S 2 0 1 GALNTL6 HuRef dgv5831n71 4 173799139 173898286 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880613,nsv880685 M 6533 2 0 GALNTL6 MS10658,MS11191 esv2435425 4 173928470 173929796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294464 S 1 0 1 GALNTL6 NA18507 esv274870 4 173939313 173941404 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585803,essv2585112 M 1250 1 1 GALNTL6 nsv881394 4 173993690 174083980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541480 S 6533 0 1 GALNTL6 MS15337 esv1004880 4 174015965 174027318 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564862 S 3 0 1 GALNTL6 HuRef nsv289404 4 174035345 174040902 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307982 M 24 GALNTL6 nsv4608 4 174042082 174048393 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8031 S 9 0 1 GALNTL6 NA12156 esv1009606 4 174209349 174209349 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569662 S 3 1 0 "" HuRef esv269062 4 174280767 174281107 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514663,essv2519250,essv2514897,essv2515317,essv2514991,essv2515583,essv2517959,essv2515961,essv2514455,essv2517606,essv2516236,essv2516933,essv2517280 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA12234,NA12249,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970 esv274653 4 174280773 174281103 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582257,essv2582588,essv2583204 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv267621 4 174299319 174299496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495349,essv2503060,essv2509694,essv2496274,essv2505855,essv2503071,essv2500531,essv2506671,essv2509563,essv2511495 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12287,NA18507,NA18508,NA18511,NA18861,NA18943,NA18956,NA19108,NA19129 esv24067 4 174326589 174327752 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15231 S 451 0 1 GALNT7 NA07045 nsv518900 4 174367078 174379449 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696358 S 2026 1 0 GALNT7 nsv527434 4 174371259 174373527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703874 S 2026 1 0 GALNT7 esv272207 4 174385953 174386287 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579194,essv2579672 M 7 2 0 Samples from several populations that are part of the HapMap project. GALNT7 NA19239,NA19240 esv267455 4 174385998 174386328 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558096,essv2576072,essv2540877,essv2571632,essv2521196,essv2525953,essv2536793,essv2522905,essv2543880,essv2556653,essv2568387,essv2531999,essv2570749,essv2521609,essv2576792,essv2550579,essv2525372,essv2535346,essv2554131,essv2547136,essv2564585,essv2553625,essv2565342,essv2576312,essv2520171,essv2564061,essv2555095,essv2561802,essv2528450,essv2540088,essv2552740,essv2569382,essv2536896,essv2561349,essv2562906,essv2523568,essv2552774,essv2538338,essv2542889,essv2540514,essv2565149,essv2534717,essv2561188,essv2539838,essv2549348,essv2519578,essv2560147,essv2522074,essv2566089,essv2532528,essv2567957,essv2528966,essv2567331,essv2541738,essv2563747,essv2553200,essv2535549,essv2572608,essv2559015,essv2569037,essv2578128,essv2555307,essv2555606,essv2567197,essv2566624,essv2529970,essv2527523,essv2557754,essv2555828,essv2534246,essv2522383,essv2531608,essv2543306,essv2571907,essv2526989,essv2575001,essv2526569,essv2560535,essv2568524,essv2560222,essv2549789,essv2551448,essv2538153,essv2548737,essv2532971,essv2554428,essv2547967,essv2524806,essv2563461 M 157 89 0 Samples from several populations that are part of the HapMap project. GALNT7 NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11894,NA11918,NA11920,NA11931,NA11992,NA11994,NA11995,NA12006,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12717,NA12751,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12891,NA18489,NA18502,NA18508,NA18517,NA18523,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18940,NA18943,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18973,NA19005,NA19102,NA19114,NA19116,NA19147,NA19190,NA19225,NA19257 nsv4610 4 174453601 174489202 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4676,nssv8032 M 9 0 2 GALNT7,HMGB2 NA12156,NA19129 esv259497 4 174557154 174557505 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394247,essv2393869,essv2393837,essv2393763,essv2394007,essv2394294 M 6 0 0 Samples from several populations that are part of the HapMap project. SCRG1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259750 4 174557164 174557513 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400221,essv2394753,essv2399049,essv2396728,essv2400340,essv2398486,essv2401117,essv2400896,essv2398908,essv2395766,essv2400587,essv2398101,essv2396648,essv2400757,essv2395383,essv2396680,essv2399628,essv2397335,essv2401048,essv2396927,essv2395086,essv2399272,essv2394949,essv2396304,essv2395070,essv2397861,essv2398863,essv2398939,essv2400145,essv2399139,essv2395727,essv2399433,essv2397940,essv2400685,essv2400009,essv2394897,essv2394445,essv2395431,essv2398180,essv2397741,essv2400977,essv2395208,essv2394806,essv2399789,essv2395972,essv2397071,essv2400520 M 144 0 0 Samples from several populations that are part of the HapMap project. SCRG1 NA07037,NA07357,NA10851,NA11831,NA11881,NA11894,NA11931,NA11993,NA11995,NA12004,NA12043,NA12144,NA12414,NA12717,NA12749,NA12750,NA12761,NA12878,NA12891,NA12892,NA18486,NA18508,NA18545,NA18558,NA18571,NA18577,NA18582,NA18603,NA18608,NA18609,NA18853,NA18858,NA18907,NA18912,NA18940,NA18942,NA18943,NA18948,NA18949,NA18956,NA19099,NA19108,NA19114,NA19129,NA19238,NA19239,NA19240 esv1417482 4 174557273 174557273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986823 S 2 1 0 "" HuRef nsv461841 4 174567238 174659588 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538183 S 1557 0 1 "" 1780862127_A nsv507218 4 174578732 174584732 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617658 S 4 1 0 "" CHM esv1252085 4 174640864 174642279 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837477 S 2 0 1 "" HuRef nsv292878 4 174642867 174642922 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311456 M 24 "" nsv518998 4 174659588 174690658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696465 S 2026 0 1 HAND2,NBLA00301 nsv880913 4 174659588 174705245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596030 S 6533 0 1 HAND2,NBLA00301 IS40396 nsv507219 4 174661358 174667358 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620274 S 4 1 0 "" NA15510 nsv881020 4 174675472 174705245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592146 S 6533 0 1 HAND2,NBLA00301 IS39233 nsv522261 4 174680071 174696398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695041 S 2026 0 1 HAND2,NBLA00301 nsv880541 4 174720696 174801596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585000 S 6533 0 1 "" IS37226 nsv292538 4 174721654 174726629 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311116 M 24 "" nsv508334 4 174756463 174806112 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618760,nssv622510 M 4 0 2 "" NA10860,NA18994 esv1005493 4 174760902 174772565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563912 S 3 0 1 "" HuRef nsv435799 4 174768863 174773043 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466175 S 2 0 1 "" NA15510 esv2042195 4 174769534 174772635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4600290 S 1 0 1 "" NA18507 nsv881172 4 175009143 175110544 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526145 S 6533 1 0 "" SP57044 nsv830154 4 175018558 175177215 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444080 S 95 0 1 "" esv267503 4 175023250 175023412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558166,essv2575889,essv2523024,essv2570806,essv2521680,essv2576875,essv2544276,essv2552006,essv2520574,essv2564597,essv2577945,essv2559547,essv2555013,essv2530590,essv2562004,essv2537609,essv2528467,essv2553019,essv2540405,essv2524330,essv2565086,essv2534825,essv2522251,essv2566117,essv2528770,essv2570072,essv2556283,essv2573903,essv2543148,essv2572124,essv2575384,essv2526680,essv2571093,essv2536216,essv2554710,essv2547814,essv2524767 M 157 37 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA07347,NA07357,NA10851,NA11830,NA11931,NA11993,NA12144,NA12154,NA12414,NA12489,NA12716,NA12751,NA12761,NA12776,NA12872,NA12873,NA12874,NA12878,NA12891,NA18542,NA18552,NA18555,NA18558,NA18561,NA18571,NA18572,NA18579,NA18593,NA18871,NA18951,NA18965,NA18973,NA19099,NA19114,NA19238 esv274320 4 175023252 175023379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582209,essv2582398,essv2583931 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv993671 4 175023269 175023269 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568239 S 3 1 0 "" HuRef esv1554332 4 175023283 175023283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815271 S 2 1 0 "" HuRef esv1733321 4 175024996 175025341 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059682 S 2 0 1 "" HuRef nsv527872 4 175110544 175145153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704371 S 2026 0 1 "" esv267662 4 175172870 175173234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496719,essv2496272,essv2498382,essv2506928,essv2506696,essv2499149,essv2493556,essv2498699 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18511,NA18858,NA19102,NA19108,NA19114,NA19137,NA19138 nsv830155 4 175180384 175373058 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444081 S 95 1 0 "" nsv508335 4 175198297 175231667 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622511 S 4 0 1 "" NA18994 nsv881449 4 175220805 175462027 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526146 S 6533 1 0 CEP44,FBXO8 SP57044 nsv822842 4 175263427 175264041 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434391 S 31 0 1 "" NA18570 nsv880781 4 175283560 175326325 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523386 S 6533 1 0 "" SP53999 esv1011374 4 175309928 175309986 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570808 S 3 0 1 "" HuRef esv2123340 4 175422822 175423220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956802 S 1 0 1 FBXO8 NA18507 esv271663 4 175448132 175448464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514698,essv2517107,essv2518698,essv2515371,essv2518441,essv2516320,essv2515759,essv2518163,essv2516010,essv2517695 M 157 10 0 Samples from several populations that are part of the HapMap project. CEP44 NA11840,NA11931,NA12045,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12878 esv272309 4 175448132 175448464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581619 S 7 1 0 Samples from several populations that are part of the HapMap project. CEP44 NA12878 esv1066081 4 175448163 175448163 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313361 S 2 1 0 CEP44 HuRef nsv509025 4 175460045 175472944 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619388 S 4 1 0 CEP44 NA10860 nsv510928 4 175460045 175480575 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618606,nssv624294 M 4 0 0 CEP44 CHM,NA18994 esv995918 4 175478240 175482758 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564053 S 3 1 0 CEP44 HuRef esv1614926 4 175478243 175478243 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015737 S 2 1 0 CEP44 HuRef nsv290531 4 175500077 175500136 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309109 M 24 "" esv988354 4 175567506 175574117 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565741 S 3 0 1 "" HuRef nsv525487 4 175636679 175707442 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701616 S 2026 1 0 HPGD nsv881299 4 175640248 175652017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515239 S 6533 0 1 HPGD SP56143 nsv509946 4 175646319 175652319 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623966 S 4 0 1 HPGD NA18994 nsv880289 4 175649550 175673692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503547 S 6533 1 0 HPGD SP52077 nsv881270 4 175649871 175662194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505264 S 6533 0 1 HPGD SP53347 nsv880970 4 175670969 175680581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507269 S 6533 0 1 HPGD SP54516 nsv880884 4 175675631 175690405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507987 S 6533 0 1 HPGD SP54684 dgv5832n71 4 175702676 175759648 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880379,nsv881481,nsv881376,nsv881565,nsv881297,nsv881192,nsv880684,nsv880800,nsv881268 M 6533 0 22 "" IS38382,IS39243,MS14485,MS16176,MS16286,MS17580,MS18226,MS20843,MS21325,MS24584,SP50554,SP52717,SP53347,SP54952,SP55027,SP55160,SP55797,SP56728,SP57238,SP57469,SP57925,SP81349 nsv880403 4 175721893 175771967 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597550 S 6533 0 1 "" IS41319 dgv5833n71 4 175738663 175792797 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880497,nsv880679 M 6533 0 2 "" IS36244,IS39081 nsv880584 4 175742324 175881264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574270 S 6533 0 1 GLRA3 IS33533 esv270243 4 175770845 175771181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571765,essv2521277,essv2525854,essv2522926,essv2577247,essv2554994,essv2530780,essv2528511,essv2572845,essv2571228,essv2545949,essv2574128 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA11918,NA11931,NA12043,NA12872,NA12873,NA12891,NA19143,NA19238,NA19239,NA19240 esv273457 4 175770847 175771183 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582599,essv2584351,essv2584560,essv2583628 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv1660130 4 175770880 175770880 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995960 S 2 1 0 "" HuRef esv988593 4 175857016 175863733 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565343 S 3 0 1 GLRA3 HuRef dgv911n67 4 175861647 175863596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822845,nsv822844 M 31 0 14 GLRA3 AK10,AK12,AK14,AK18,AK2,AK20,NA18570,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18999 nsv821054 4 175861647 175863596 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420461 S 1 0 1 GLRA3 NA10851 esv9678 4 175861729 175863545 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32119 S 1 0 1 GLRA3 SJK esv22642 4 175861773 175863538 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12796 S 451 28 0 GLRA3 NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv1917201 4 175945124 175945515 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787669 S 1 0 1 GLRA3 NA18507 nsv830156 4 175961615 176153010 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444083,nssv1444082 M 95 2 0 ADAM29,GLRA3 nsv507220 4 175976684 175982684 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620275,nssv621774 M 4 2 0 GLRA3 NA10860,NA15510 nsv881126 4 176098257 176166753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550809 S 6533 0 1 ADAM29 MS18620 nsv881259 4 176191434 176240359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508592 S 6533 0 1 "" SP54614 nsv880423 4 176191434 176293077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581373,nssv1566902 M 6533 0 2 "" IS30976,IS35572 nsv461842 4 176210634 176310155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538184 S 1557 0 1 "" 1780862598_A esv1492354 4 176261172 176261225 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876683 S 2 0 1 "" HuRef esv24271 4 176267147 176276138 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14538 S 451 1 0 "" NA19108 esv2351049 4 176327529 176327950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497450 S 1 0 1 "" NA18507 esv1006156 4 176327659 176327742 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573588 S 3 0 1 "" HuRef esv1257262 4 176327737 176327821 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829816 S 2 0 1 "" HuRef esv1326662 4 176338772 176338772 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202545 S 2 1 0 "" HuRef nsv822846 4 176357002 176357532 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423373,nssv1427457 M 31 0 2 "" AK8,NA18999 nsv819087 4 176357031 176357562 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418986 S 2 0 1 "" AK1 esv3314 4 176357079 176357707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25755 S 1 0 1 Single Asian sample YH "" YH esv7135 4 176357088 176357523 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29576 S 1 0 1 "" SJK nsv292351 4 176357120 176357508 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310929 M 24 "" esv274968 4 176370513 176380321 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585743,essv2585502 M 1250 1 1 "" nsv4611 4 176436904 176471878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv430 S 9 1 0 "" NA19240 nsv290503 4 176494974 176494974 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309081 M 24 "" esv22924 4 176499859 176501635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19095 S 451 0 8 "" NA18502,NA18511,NA18858,NA18861,NA18916,NA19099,NA19114,NA19225 esv271072 4 176518796 176519055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558107,essv2546548,essv2521095,essv2522881,essv2521610,essv2529280,essv2558355,essv2553855,essv2531019,essv2567485,essv2563844,essv2559161,essv2533475,essv2567060,essv2573913,essv2531489,essv2537874,essv2563528 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA10851,NA11881,NA11894,NA11931,NA12144,NA12749,NA12750,NA12763,NA18573,NA18582,NA18603,NA18638,NA18944,NA18947,NA18951,NA18961 esv269307 4 176554533 176554809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557294,essv2557227,essv2551767,essv2578697,essv2550190,essv2561314,essv2566825,essv2568945,essv2543434,essv2527870,essv2575621,essv2575146,essv2526377,essv2572832,essv2568665,essv2549930,essv2551516 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18504,NA18510,NA18511,NA18523,NA18853,NA18861,NA18870,NA18907,NA19099,NA19102,NA19114,NA19143,NA19147,NA19225,NA19257 nsv880864 4 176569534 176797085 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519646 S 6533 0 1 GPM6A SP50101 esv1655652 4 176592708 176593102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017441 S 2 0 1 "" HuRef nsv290939 4 176593103 176593266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309517 M 24 "" esv267481 4 176639010 176639337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503845,essv2508963,essv2505334,essv2513371,essv2510958,essv2509440,essv2493540,essv2498662,essv2499623 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA12761,NA18522,NA18853,NA18907,NA19116,NA19129,NA19137,NA19138,NA19225 esv2500335 4 176665461 176670466 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300246 S 1 0 1 "" NA18507 esv2174367 4 176666135 176670322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805253 S 1 0 1 "" NA18507 esv2428194 4 176666626 176670661 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279839 S 1 0 1 "" NA18507 dgv5834n71 4 176695242 176803545 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881349,nsv880324,nsv880754 M 6533 0 3 GPM6A IS31070,IS35572,IS37194 nsv470094 4 176695242 176808005 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546394,nssv546395 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPM6A HGDP00890,HGDP01216 dgv5835n71 4 176734289 176807782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880682,nsv881677 M 6533 0 6 GPM6A IS30432,IS31123,IS31706,IS35189,IS36656,MS10727 esv26508 4 176776347 176777185 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9796 S 451 0 1 "" NA18916 nsv822847 4 176903101 176903538 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429569 S 31 1 0 GPM6A NA18592 nsv822848 4 176910990 176921093 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430554 S 31 0 1 GPM6A AK16 nsv830157 4 177002321 177158489 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444084 S 95 1 0 GPM6A esv34137 4 177009216 177499403 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ASB5,GPM6A,MIR1267,SPATA4,SPCS3,WDR17 esv1009508 4 177097620 177102927 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563824 S 3 0 1 GPM6A HuRef nsv290701 4 177114868 177114868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309279 M 24 GPM6A nsv510894 4 177273682 177295092 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618607 S 4 0 0 MIR1267,WDR17 CHM esv27476 4 177286565 177290227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20143,esv15995 M 451 0 3 MIR1267,WDR17 NA12239,NA18505,NA19240 nsv822849 4 177299712 177300297 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436581 S 31 0 1 MIR1267,WDR17 NA18542 nsv526625 4 177358977 177360844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702946 S 2026 0 1 "" esv1348309 4 177376356 177376356 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681393 S 2 1 0 ASB5 HuRef nsv293663 4 177376731 177377730 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312241 M 24 ASB5 nsv4612 4 177401039 177418053 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8034 S 9 0 1 ASB5 NA12156 esv1073765 4 177458423 177458423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859014 S 2 1 0 "" HuRef esv271760 4 177525413 177525751 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571733,essv2565403 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12812 esv27879 4 177548679 177549599 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14527 S 451 1 0 "" NA19108 esv275290 4 177555230 177557051 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586075,essv2586116 M 1250 1 1 "" nsv881036 4 177597663 177634027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517738 S 6533 0 1 "" SP57367 nsv880589 4 177597663 177666148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578324 S 6533 0 1 "" IS34758 esv271785 4 177608624 177608897 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503846,essv2503957 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA12761 esv1133669 4 177681966 177681966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827820 S 2 1 0 "" HuRef nsv881066 4 177774234 177915549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591681 S 6533 0 1 VEGFC IS39011 nsv4613 4 177826457 177857318 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3307 S 9 1 0 VEGFC NA12878 esv2065647 4 177830859 177831272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975790 S 1 0 1 "" NA18507 nsv289631 4 177831029 177831088 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308209 M 24 "" esv1655976 4 177898134 177898194 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304572 S 2 0 1 VEGFC HuRef nsv289896 4 177898170 177898225 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308474 M 24 VEGFC nsv822850 4 177949028 177951524 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432811 S 31 1 0 VEGFC NA18972 nsv881529 4 177977686 178517467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569848 S 6533 1 0 NEIL3 IS31728 esv270948 4 178041450 178041798 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516407 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv2485424 4 178087456 178089778 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197347 S 1 0 1 "" NA18507 esv2140218 4 178087912 178089419 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986713 S 1 0 1 "" NA18507 esv25276 4 178088137 178089363 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16653 S 451 0 9 "" NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18916,NA19114,NA19240 esv2648015 4 178105345 178107029 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201040 S 1 0 1 "" NA18507 esv2255047 4 178106121 178106844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872017 S 1 0 1 "" NA18507 esv5510 4 178106279 178106626 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27951 S 1 0 1 "" SJK esv3296 4 178106294 178106748 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25737 S 1 0 1 Single Asian sample YH "" YH esv988301 4 178106321 178106636 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582144 S 3 0 1 "" HuRef esv1122000 4 178106326 178106642 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225992 S 2 0 1 "" HuRef dgv5836n71 4 178172093 178418675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880331,nsv880354,nsv881443,nsv881538,nsv881519,nsv881240,nsv880962 M 6533 0 44 "" MS10441,MS10946,MS10999,MS11135,MS11468,MS12545,MS13693,MS14339,MS14361,MS14676,MS14920,MS15386,MS15682,MS15779,MS16122,MS16228,MS16423,MS17359,MS17718,MS17949,MS17958,MS18117,MS18261,MS20251,MS20406,MS20850,MS21059,MS21188,MS22146,MS22268,MS22645,MS22789,MS22998,MS23077,MS23981,MS23997,MS24672,MS24909,MS25254,MS25696,SP51105,SP53509,SP58008,SP58305 nsv461843 4 178205572 178326523 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538185 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01194 nsv292206 4 178242841 178242841 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310784 M 24 "" esv1391629 4 178242848 178242848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268446 S 2 1 0 "" HuRef dgv5837n71 4 178254544 178369793 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881106,nsv880699 M 6533 0 4 "" IS33519,IS37467,IS38395,MS15041 nsv519492 4 178256142 178348998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687780,nssv694086,nssv683959,nssv691122,nssv692156,nssv690943,nssv678822,nssv691922,nssv656409,nssv688775,nssv675967,nssv693069 M 2026 0 12 "" esv22022 4 178289177 178295013 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17139,esv12492 M 451 0 2 "" NA18523,NA18861 esv2536034 4 178356446 178357937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260182 S 1 0 1 "" NA18507 nsv513182 4 178393450 178394826 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626680 S 1 0 1 "" 1 esv2520661 4 178393456 178395139 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292330 S 1 0 1 "" NA18507 esv2168855 4 178393626 178394355 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4576467 S 1 0 1 "" NA18507 esv4585 4 178393772 178394205 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27026 S 1 0 1 Single Asian sample YH "" YH esv2617970 4 178393822 178394150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343433 S 1 0 1 "" NA18507 esv991838 4 178393823 178394151 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579452 S 3 0 1 "" HuRef esv8069 4 178393827 178394150 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30510 S 1 0 1 "" SJK esv1292730 4 178393831 178394160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287710 S 2 0 1 "" HuRef nsv290398 4 178393832 178394160 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308976 M 24 "" dgv1719e1 4 178402463 178642368 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1779,esv821 M 271 0 0 AGA,NEIL3 NA18997 nsv520352 4 178407330 178415154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663108,nssv685444 M 2026 0 2 "" nsv10614 4 178440819 178453694 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12352 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv441928 4 178443731 178452258 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv822851 4 178444997 178453147 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435056,nssv1428243 M 31 0 2 "" AK10,NA18942 nsv514276 4 178445200 178452096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627717 S 1414 0 1 "" nsv520504 4 178445520 178452955 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671896,nssv686367 M 2026 0 2 "" nsv818298 4 178445520 178452955 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417286 S 112 0 1 "" NA18608 essv1584 4 178450313 178554708 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NEIL3 NA18997 nsv822852 4 178454140 178538919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421678 S 31 1 0 NEIL3 NA18997 esv34846 4 178466007 178538104 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978286,essv6978287,essv6986584 M 771 1 0 NEIL3 NA18997 nsv508336 4 178517905 178527168 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622512 S 4 0 1 NEIL3 NA18994 esv2505960 4 178572271 178573668 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283265 S 1 0 1 "" NA18507 nsv880923 4 178572502 178798460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558606 S 6533 0 1 AGA MS23423 esv1956595 4 178572891 178573266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935064 S 1 0 1 "" NA18507 esv3661 4 178572906 178573384 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26102 S 1 0 1 Single Asian sample YH "" YH esv1446564 4 178573084 178573221 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136677 S 2 0 1 "" HuRef nsv880481 4 178606760 179411162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527164 S 6533 0 1 LOC285501 SP58208 nsv4614 4 178607695 178632412 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv431 S 9 0 1 "" NA19240 nsv10615 4 178611812 178624226 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12680,nssv13321 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19240 nsv499280 4 178612037 178623594 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585937 S 9 0 1 "" esv25025 4 178612243 178623544 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20605 S 451 0 1 "" NA19240 nsv514277 4 178612416 178612944 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627718 S 1414 0 1 "" esv2421629 4 178612788 178623504 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053396,essv5015406,essv5130133,essv5120888,essv5086467,essv5131712,essv5006313,essv5011798,essv5044348,essv5070796,essv5115684,essv5058871,essv5059450,essv5136556,essv5113105,essv5148298,essv5136207,essv5127962,essv5040799,essv5056452,essv5060100,essv5044918,essv5158911,essv5099650 M 1184 0 24 "" NA18500,NA18501,NA18519,NA18853,NA18854,NA18917,NA19140,NA19239,NA19240,NA19309,NA19921,NA20340,NA21316,NA21317,NA21318,NA21381,NA21383,NA21491,NA21519,NA21521,NA21577,NA21582,NA21678,NA21722 nsv441929 4 178612788 178623504 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514278 4 178615584 178622464 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627719 S 1414 0 1 "" nsv292239 4 178615943 178615943 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310817 M 24 "" nsv290487 4 178628901 178634974 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309065 M 24 "" nsv10616 4 178636568 178643746 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13911 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv269782 4 178642789 178642890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494714,essv2498454,essv2507320 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18858,NA18912 dgv329n21 4 178656095 178738910 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524425,nsv517838 M 2026 0 2 "" nsv436406 4 178703409 178725756 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466176 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26823 4 178704254 178725390 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15797 S 451 0 1 "" NA18505 nsv441930 4 178705030 178723600 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514279 4 178705120 178723184 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627720 S 1414 0 1 "" nsv515655 4 178708967 178716816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664262,nssv687528 M 2026 0 2 "" esv2494816 4 178750689 178752286 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311950 S 1 0 1 "" NA18507 esv2296196 4 178751062 178751758 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857798 S 1 0 1 "" NA18507 esv4436 4 178751170 178751627 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26877 S 1 0 1 Single Asian sample YH "" YH esv2583297 4 178751240 178751558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385316 S 1 0 1 "" NA18507 esv987732 4 178751243 178751561 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579857 S 3 0 1 "" HuRef esv1310719 4 178751251 178751570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263372 S 2 0 1 "" HuRef dgv5838n71 4 178769756 178872310 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880771,nsv881127 M 6533 0 2 "" MS10510,MS13426 nsv10618 4 178826910 178853419 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13934,nssv13259 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19173 nsv4615 4 178829076 178862181 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9402 S 9 0 1 "" NA18517 nsv437459 4 178830262 178848902 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467340 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv514280 4 178831056 178848048 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627721 S 1414 0 1 "" esv23144 4 178831069 178847704 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10083 S 451 0 1 "" NA18517 nsv515765 4 178831900 178835302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682744,nssv684405,nssv684700,nssv654965,nssv674909,nssv690944,nssv668596,nssv656658,nssv659783,nssv672935,nssv672425,nssv676183,nssv688175,nssv685353,nssv662544,nssv664712,nssv659308,nssv662934,nssv657506 M 2026 0 19 "" nsv818299 4 178831900 178835302 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416436,nssv1416542,nssv1416541 M 112 0 3 "" NA18517,NA19171,NA19173 nsv437951 4 178831900 178838152 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468697,nssv468699,nssv468698,nssv468700 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19171,NA19173 esv2421484 4 178831900 178846707 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5101235,essv5014231,essv5116985,essv5139799,essv5130662,essv5057552,essv5072330,essv5048900,essv5011642,essv5118444,essv5092479,essv5042093,essv5083158,essv5156547,essv5022327,essv5066866,essv5091650,essv5089836,essv5019442 M 1184 0 19 "" NA18501,NA18517,NA18873,NA19107,NA19109,NA19117,NA19171,NA19173,NA19174,NA19201,NA19226,NA19310,NA19474,NA20281,NA20294,NA20295,NA20335,NA21574,NA21776 nsv441931 4 178833525 178846707 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv289913 4 178894756 178894756 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308491 M 24 LOC285501 esv1003270 4 178894830 178894830 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585689 S 3 1 0 LOC285501 HuRef esv1057137 4 178894841 178894841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658767 S 2 1 0 LOC285501 HuRef esv8656 4 178935627 178935691 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31097 S 1 1 0 LOC285501 SJK nsv881576 4 179000809 179073423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520102 S 6533 1 0 LOC285501 SP50685 esv268930 4 179026697 179027059 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500358,essv2494531,essv2507899,essv2507610,essv2496052,essv2497948,essv2509404,essv2500813 M 157 8 0 Samples from several populations that are part of the HapMap project. LOC285501 NA18537,NA18550,NA18564,NA18576,NA18603,NA18945,NA18953,NA18973 nsv880614 4 179064835 179373223 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565332,nssv1590183 M 6533 2 0 LOC285501 IS30395,IS38465 esv1916588 4 179068097 179068518 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551923 S 1 0 1 LOC285501 NA18507 nsv292726 4 179068240 179068294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311304 M 24 LOC285501 nsv289663 4 179068300 179068354 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308241 M 24 LOC285501 dgv106n17 4 179118810 179133292 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437461,nsv437460 M 60 0 2 LOC285501 NA18863,NA19194 nsv818301 4 179120182 179128405 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418450,nssv1418451 M 112 0 2 LOC285501 NA19193,NA19194 esv22047 4 179121830 179130117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13176 S 451 0 1 LOC285501 NA18909 nsv523069 4 179123002 179128405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698756 S 2026 0 1 LOC285501 esv2421879 4 179123002 179129543 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5153516,essv5039763,essv5055432,essv5070120,essv5126322,essv5052286,essv5124789,essv5148359,essv5002640,essv5160851,essv5137206,essv5116046,essv5141829,essv5021421,essv5023264,essv5025140,essv5120132,essv5017256,essv5124887,essv5123262,essv5045376,essv5155023,essv5114352,essv5144021,essv5088339 M 1184 0 25 LOC285501 NA18862,NA18863,NA18909,NA18911,NA19159,NA19193,NA19194,NA19201,NA19202,NA19204,NA19327,NA19372,NA19384,NA19435,NA19654,NA20294,NA20295,NA20335,NA21512,NA21514,NA21620,NA21719,NA21722,NA21738,NA21826 nsv442932 4 179127424 179129525 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC285501 nsv514281 4 179127520 179128800 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627722 S 1414 0 1 LOC285501 nsv293654 4 179128955 179128955 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312232 M 24 LOC285501 esv2641794 4 179140198 179141708 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378367 S 1 0 1 LOC285501 NA18507 esv2261042 4 179140449 179140921 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933170 S 1 0 1 LOC285501 NA18507 esv2597701 4 179140644 179140870 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300581 S 1 0 1 LOC285501 NA18507 nsv4616 4 179151658 179186864 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3308 S 9 1 0 "" NA12878 dgv5839n71 4 179163018 179272784 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880542,nsv880646 M 6533 0 2 "" IS31373,IS31581 esv259912 4 179163779 179164499 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398644,essv2396768,essv2398790,essv2398612,essv2396556,essv2396029,essv2400275,essv2396819,essv2396289,essv2400736,essv2396681,essv2398280,essv2397614,essv2397707,essv2398397,essv2395502,essv2400845,essv2398804,essv2400420,essv2395538,essv2399137,essv2396839,essv2396185,essv2395122,essv2394539,essv2400379,essv2395829,essv2399650,essv2396363 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07347,NA10847,NA11919,NA12003,NA12154,NA12155,NA12716,NA12717,NA12750,NA12763,NA18489,NA18502,NA18552,NA18563,NA18564,NA18582,NA18592,NA18593,NA18609,NA18638,NA18944,NA18953,NA18959,NA18960,NA18961,NA18964,NA19138 nsv519076 4 179192482 179213215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696548 S 2026 0 1 "" nsv881642 4 179192482 179281698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578270 S 6533 1 0 "" IS34748 nsv822853 4 179197055 179197505 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429692 S 31 0 1 "" NA18592 dgv5840n71 4 179203248 179292610 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880466,nsv881656 M 6533 0 2 "" IS36219,MS10098 dgv5841n71 4 179203248 179342532 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880310,nsv880736 M 6533 0 2 "" IS31587,IS37999 nsv524616 4 179239055 179269988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700577 S 2026 0 1 "" nsv526491 4 179246616 179281698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702800 S 2026 0 1 "" nsv880567 4 179246639 179547283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591682 S 6533 0 1 "" IS39011 nsv830158 4 179255900 179400895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444086 S 95 1 0 "" nsv509947 4 179285236 179291236 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622073,nssv618193,nssv623967,nssv621253 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv880508 4 179292610 179431369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600345 S 6533 0 1 "" IS41871 nsv470095 4 179318010 179411162 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546396 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01223 nsv881132 4 179324317 179384392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506582 S 6533 0 1 "" SP54381 nsv290732 4 179374234 179375481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309310 M 24 "" nsv830160 4 179376632 179544251 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444088,nssv1444087 M 95 2 0 "" esv1664682 4 179388057 179388057 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948439 S 2 1 0 "" HuRef esv1380525 4 179406684 179406684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629765 S 2 1 0 "" HuRef nsv519234 4 179409231 179411162 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696725 S 2026 0 1 "" esv268538 4 179435288 179435585 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565780,essv2575861,essv2540829,essv2546479,essv2525976,essv2542536,essv2536787,essv2544006,essv2571054,essv2545365,essv2523460,essv2570456,essv2576753,essv2550760,essv2525489,essv2550307,essv2553921,essv2544514,essv2520316,essv2547510,essv2558256,essv2564705,essv2578108,essv2565552,essv2576477,essv2563993,essv2561973,essv2537486,essv2528233,essv2546838,essv2556837,essv2532159,essv2569258,essv2578598,essv2558944,essv2561563,essv2544938,essv2563046,essv2523586,essv2552806,essv2541455,essv2538405,essv2542700,essv2540559,essv2524721,essv2565181,essv2534542,essv2561210,essv2549164,essv2519677,essv2522012,essv2566262,essv2530920,essv2532708,essv2567668,essv2528696,essv2567649,essv2570100,essv2563707,essv2553409,essv2535495,essv2572371,essv2559273,essv2566818,essv2569118,essv2562234,essv2578231,essv2533481,essv2567132,essv2566401,essv2530006,essv2573967,essv2527634,essv2557764,essv2556109,essv2534266,essv2531631,essv2573733,essv2543144,essv2571883,essv2525570,essv2526801,essv2529684,essv2526458,essv2524219,essv2574785,essv2572623,essv2560421,essv2545837,essv2574424,essv2551339,essv2536184,essv2537971,essv2548880,essv2533181,essv2554382,essv2547853,essv2525023,essv2563536,essv2557789 M 157 100 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA12003,NA12004,NA12044,NA12154,NA12155,NA12156,NA12234,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12812,NA12814,NA12828,NA12874,NA12878,NA12891,NA12892,NA18501,NA18505,NA18508,NA18510,NA18516,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18909,NA18940,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19114,NA19129,NA19138,NA19143,NA19190,NA19239,NA19240,NA19257 esv273076 4 179435288 179435630 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581650,essv2582533,essv2582837,essv2584691,essv2583825 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv1000020 4 179435304 179435304 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573866 S 3 1 0 "" HuRef esv1639046 4 179435323 179435323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748006 S 2 1 0 "" HuRef nsv290305 4 179477633 179483425 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308883 M 24 "" esv28554 4 179477661 179483328 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11476 S 451 0 12 "" NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA19114,NA19147,NA19225,NA19240,NA19257 esv29424 4 179523755 179533156 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17461 S 451 1 0 "" NA12749 nsv522832 4 179606887 179611116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698482 S 2026 0 1 "" nsv880984 4 179636517 179657951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517072,nssv1504312 M 6533 2 0 "" SP52409,SP57078 esv270505 4 179675529 179675874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498306,essv2500412,essv2511374,essv2511644,essv2497919,essv2495138,essv2502740,essv2505678 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18537,NA18570,NA18940,NA18945,NA18964,NA18965,NA19005 nsv509948 4 179676850 179682850 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622074,nssv618194 M 4 0 2 "" CHM,NA10860 nsv880877 4 179678994 179728960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541133,nssv1567308 M 6533 0 2 "" IS31067,MS15199 esv273138 4 179681696 179682025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582009,essv2583104,essv2584155,essv2584502,essv2583733 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv268768 4 179681696 179682027 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525893,essv2523344,essv2521575,essv2576772,essv2525363,essv2535133,essv2547264,essv2529398,essv2564359,essv2563944,essv2530707,essv2537198,essv2546745,essv2530523,essv2540194,essv2520778,essv2557483,essv2557239,essv2552668,essv2551647,essv2532264,essv2569467,essv2550191,essv2536942,essv2539160,essv2569786,essv2527221,essv2540349,essv2534584,essv2566296,essv2530959,essv2567501,essv2570126,essv2535770,essv2542048,essv2543668,essv2528073,essv2562179,essv2539295,essv2534086,essv2529686,essv2575614,essv2575078,essv2538656,essv2526336,essv2524242,essv2574899,essv2568797,essv2549846,essv2571255,essv2545831,essv2574370,essv2551264,essv2538038,essv2548658,essv2524982 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA11918,NA12004,NA12144,NA12154,NA12156,NA12249,NA12717,NA12749,NA12751,NA12828,NA12873,NA12878,NA12892,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18552,NA18561,NA18572,NA18573,NA18582,NA18593,NA18608,NA18856,NA18870,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 nsv880798 4 179698746 179728960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598235 S 6533 0 1 "" IS41043 esv28698 4 179734407 179735900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11901 S 451 0 1 "" NA18505 esv28390 4 179753950 179759442 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17481,esv12846 M 451 4 0 "" NA11995,NA18511,NA19108,NA19114 esv25709 4 179769891 179771916 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18269 S 451 0 1 "" NA18517 dgv5842n71 4 179778381 179848896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881460,nsv881087,nsv881041 M 6533 0 3 "" IS35083,IS36727,MS18847 nsv880450 4 179778381 179920397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546114 S 6533 0 1 "" MS17114 nsv509949 4 179797147 179803147 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622075 S 4 0 1 "" NA10860 dgv5843n71 4 179834368 179933454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881109,nsv880706 M 6533 0 2 "" MS15312,MS22104 nsv525204 4 179838741 179906919 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701286 S 2026 0 1 "" nsv880825 4 179851992 179971891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536232 S 6533 0 1 "" MS12656 nsv461845 4 179855080 179906919 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538186 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00627 nsv470096 4 179855080 179906919 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546397 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00627 nsv4617 4 179893359 179938096 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8035 S 9 0 1 "" NA12156 nsv461846 4 179902364 180309671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538187 S 1557 0 1 "" 1780854302_A nsv528794 4 179906919 179921603 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705465 S 2026 1 0 "" nsv880595 4 179964514 180339255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515811 S 6533 0 1 "" SP56289 nsv822855 4 180055339 180057786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434393 S 31 0 1 "" NA18570 nsv507221 4 180058746 180064746 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622921,nssv617659 M 4 2 0 "" CHM,NA18994 nsv880695 4 180090097 180322430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593312 S 6533 0 1 "" IS39400 esv2151289 4 180101674 180102062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719777 S 1 0 1 "" NA18507 esv1656072 4 180111588 180111588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608997 S 2 1 0 "" HuRef nsv880958 4 180137762 180184797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582544 S 6533 0 1 "" IS35993 esv26202 4 180142709 180143429 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20118 S 451 1 0 "" NA19108 nsv881049 4 180179383 180226215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517874 S 6533 0 1 "" SP57401 nsv880769 4 180208846 180299478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531544 S 6533 0 1 "" MS10544 esv2472807 4 180300017 180301490 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233205 S 1 0 1 "" NA18507 esv2201468 4 180300625 180301332 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513660 S 1 0 1 "" NA18507 esv5101 4 180300767 180301318 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27542 S 1 0 1 Single Asian sample YH "" YH nsv881536 4 180322867 180356592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505567 S 6533 0 1 "" SP53687 esv2427825 4 180333987 180335934 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318229 S 1 0 1 "" NA18507 esv2417282 4 180334694 180335699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570140 S 1 0 1 "" NA18507 esv8959 4 180334868 180335505 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31400 S 1 0 1 "" SJK esv2653015 4 180370728 180372075 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171480 S 1 0 1 "" NA18507 nsv523928 4 180385581 180444427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699773 S 2026 0 1 "" nsv822856 4 180394703 180395198 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425726 S 31 1 0 "" AK4 nsv881694 4 180414164 180444406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515312 S 6533 0 1 "" SP56154 nsv822857 4 180414875 180423469 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432812 S 31 0 1 "" NA18972 nsv461848 4 180475342 180598355 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538188 S 1557 0 1 "" 1780854023_A esv2575592 4 180493530 180494419 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375753 S 1 1 0 "" NA18507 esv267932 4 180493929 180494264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558112,essv2565772,essv2576067,essv2571636,essv2546440,essv2521288,essv2526303,essv2542563,essv2522704,essv2544211,essv2568107,essv2545293,essv2523093,essv2531756,essv2577325,essv2570588,essv2548523,essv2521890,essv2576782,essv2525255,essv2550315,essv2535026,essv2554255,essv2544363,essv2552283,essv2520701,essv2529246,essv2558250,essv2564555,essv2577962,essv2559555,essv2565533,essv2520153,essv2564194,essv2530773,essv2537694,essv2547057,essv2520795,essv2556861,essv2551862,essv2532079,essv2562780,essv2578859,essv2550032,essv2558755,essv2537170,essv2569632,essv2527154,essv2561319,essv2544864,essv2563029,essv2523547,essv2552987,essv2542730,essv2540535,essv2524598,essv2534927,essv2539622,essv2549311,essv2519608,essv2529046,essv2541611,essv2570108,essv2563685,essv2559203,essv2566731,essv2541938,essv2551075,essv2569194,essv2543417,essv2527744,essv2562301,essv2539291,essv2578456,essv2533461,essv2555746,essv2530070,essv2534239,essv2522352,essv2573474,essv2543307,essv2526963,essv2529502,essv2575465,essv2575060,essv2526334,essv2560558,essv2524261,essv2574741,essv2530254,essv2572702,essv2568484,essv2560247,essv2549673,essv2571241,essv2545739,essv2574163,essv2551277,essv2538126,essv2548780,essv2554423,essv2563341 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12815,NA12828,NA12873,NA12878,NA12892,NA18498,NA18501,NA18504,NA18505,NA18507,NA18510,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18579,NA18592,NA18593,NA18603,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18940,NA18944,NA18945,NA18949,NA18959,NA18960,NA18964,NA18965,NA19005,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274173 4 180493929 180494264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581644,essv2582880,essv2584156,essv2584860,essv2583823 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1426468 4 180493963 180493963 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302134 S 2 1 0 "" HuRef nsv880519 4 180494364 180550505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566806 S 6533 0 1 "" IS30925 nsv822858 4 180499958 180500677 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432027 S 31 1 0 "" AK20 nsv822859 4 180521869 180523019 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426626 S 31 0 1 "" AK6 nsv521929 4 180529655 180539445 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694111 S 2026 1 0 "" nsv880971 4 180530610 180561608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500696 S 6533 0 1 "" SP50074 dgv912n67 4 180536218 180536725 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822860,nsv822861 M 31 2 0 "" NA18547,NA18951 esv2504407 4 180589972 180590268 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352023 S 1 1 0 "" NA18507 dgv5844n71 4 180596390 180703303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880870,nsv881042 M 6533 0 2 "" IS30522,IS33605 nsv293329 4 180643218 180643218 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311907 M 24 "" dgv5845n71 4 180738616 180801199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881423,nsv880936,nsv881320 M 6533 0 5 "" SP50171,SP50604,SP52913,SP55156,SP58259 nsv880462 4 180823592 180890921 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546115 S 6533 0 1 "" MS17114 esv1539070 4 180837220 180837304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840589 S 2 0 1 "" HuRef nsv289898 4 180837286 180837361 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308476 M 24 "" nsv292604 4 180837355 180837438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311182 M 24 "" esv271188 4 180935439 180935777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518101,essv2517547,essv2516161 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12878,NA12891 esv272524 4 180935443 180935777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581735,essv2582417 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv830161 4 180936704 181111147 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444101,nssv1444097,nssv1444099,nssv1444100,nssv1444108,nssv1444103,nssv1444102,nssv1444105,nssv1444104,nssv1444109,nssv1444112,nssv1444111,nssv1444098,nssv1444095,nssv1444106,nssv1444091,nssv1444094,nssv1444090,nssv1444089,nssv1444110,nssv1444093,nssv1444092 M 95 22 0 "" nsv293825 4 180963562 180963613 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312403 M 24 "" esv1006510 4 181015544 181015544 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572621 S 3 1 0 "" HuRef esv1333496 4 181015545 181015545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765726 S 2 1 0 "" HuRef nsv289816 4 181015570 181015570 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308394 M 24 "" esv2473541 4 181036128 181037620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223968 S 1 0 1 "" NA18507 esv1194633 4 181036719 181037011 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938828 S 2 0 1 "" HuRef nsv881137 4 181170341 181205425 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519519 S 6533 1 0 "" SP81073 nsv880840 4 181328056 181464315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514206 S 6533 1 0 "" SP55971 nsv437462 4 181353076 181385883 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467343 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19194 nsv518756 4 181360222 181360319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696204 S 2026 0 1 "" nsv10619 4 181371617 181376294 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13941,nssv12710,nssv13351,nssv12868,nssv13964 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA18860,NA19144,NA19240 esv25560 4 181372083 181376229 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13968 S 451 0 4 "" NA18517,NA18907,NA19147,NA19240 nsv291747 4 181372110 181375637 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310325 M 24 "" nsv517104 4 181372297 181372679 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693070,nssv683899,nssv657997,nssv665806,nssv687593,nssv672269,nssv654966,nssv672325,nssv690457,nssv664991,nssv653794,nssv666950,nssv667157,nssv693295,nssv663494,nssv663952,nssv653038,nssv691487,nssv666563 M 2026 0 19 "" esv2421812 4 181372297 181375319 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5081748,essv5016119,essv5015071,essv5074710,essv5086052,essv5004227,essv5155391,essv5133317,essv5084863,essv5062371,essv5042742,essv5035085,essv5044822,essv5134646,essv5126937,essv5159047,essv5083276,essv5028719,essv5098372,essv5135473,essv5049584,essv5047968,essv5106634,essv5075829,essv5088603,essv5116028,essv5052784,essv5090926,essv5020901,essv5063194,essv5098365,essv5111933,essv5032404,essv5057178,essv5142189,essv5138092,essv5011793,essv5052835,essv5151570,essv5072799,essv5021594,essv5118279,essv5030338,essv5016012,essv5021433,essv5022069,essv5070816,essv5086635,essv5093148,essv5003918,essv5110325,essv5104704,essv5025812,essv5155375,essv5053808,essv5014276,essv5019223,essv5140151,essv5037309,essv5150957,essv5094765,essv5043169,essv5023706,essv5090020,essv5053173,essv5020370 M 1184 0 66 "" NA18498,NA18515,NA18516,NA18517,NA18518,NA18519,NA18853,NA18854,NA18859,NA18860,NA18867,NA18912,NA18913,NA18914,NA18923,NA18924,NA18925,NA19031,NA19121,NA19122,NA19123,NA19137,NA19138,NA19139,NA19144,NA19147,NA19148,NA19160,NA19178,NA19180,NA19193,NA19194,NA19236,NA19237,NA19238,NA19240,NA19308,NA19313,NA19371,NA19372,NA19376,NA19384,NA19397,NA19431,NA19452,NA19470,NA19473,NA19474,NA19625,NA19670,NA19671,NA19909,NA20335,NA20342,NA20343,NA20344,NA21363,NA21364,NA21371,NA21415,NA21475,NA21489,NA21490,NA21599,NA21601,NA21768 nsv880963 4 181395374 181450507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593668 S 6533 0 1 "" IS39475 dgv5846n71 4 181395374 181472150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881245,nsv881524,nsv880852 M 6533 0 4 "" IS31904,IS39464,IS39861,MS22104 nsv822862 4 181405597 181407640 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428244 S 31 1 0 "" AK10 nsv461850 4 181416539 181464315 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538189 S 1557 0 1 "" NINDS_189 nsv4618 4 181467447 181495133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4797 S 9 1 0 "" NA19129 nsv880454 4 181472674 181527290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598738 S 6533 0 1 "" IS40801 esv2606610 4 181497891 181499497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338950 S 1 0 1 "" NA18507 esv2422042 4 181507417 181510943 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5040344,essv5026400,essv5106788,essv5104333,essv5070959,essv5027161,essv5023788,essv5137792,essv5128119,essv5159871,essv5147940,essv5049994,essv5135975,essv5129867,essv5072033,essv5121230 M 1184 16 0 "" NA18500,NA19117,NA19144,NA19175,NA19197,NA19207,NA19208,NA19235,NA19334,NA19380,NA19713,NA19914,NA19915,NA21399,NA21405,NA21573 esv27084 4 181507497 181511310 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9845 S 451 1 0 "" NA18502 nsv522136 4 181520888 181573439 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694910 S 2026 1 0 "" nsv519625 4 181536373 181547564 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696957 S 2026 1 0 "" nsv880730 4 181547564 181603283 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594504 S 6533 1 0 "" IS39914 esv1625600 4 181548456 181548456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245366 S 2 1 0 "" HuRef nsv292148 4 181548471 181548788 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310726 M 24 "" esv1210135 4 181548665 181548665 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169727 S 2 1 0 "" HuRef esv2062845 4 181554067 181554662 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4779313 S 1 0 1 "" NA18507 esv3538 4 181554184 181554534 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25979 S 1 0 1 Single Asian sample YH "" YH esv9141 4 181554264 181554448 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31582 S 1 0 1 "" SJK esv987847 4 181554269 181554451 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578993 S 3 0 1 "" HuRef esv1651538 4 181554283 181554466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328152 S 2 0 1 "" HuRef nsv290858 4 181554312 181560252 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309436 M 24 "" nsv461852 4 181612624 181658215 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538191 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00150 nsv881566 4 181632411 182003106 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516038 S 6533 1 0 "" SP56380 nsv509950 4 181671916 181677916 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623968,nssv622076,nssv621254 M 4 0 3 "" NA10860,NA15510,NA18994 nsv461853 4 181677614 181685248 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538192 S 1557 0 1 "" 1780854219_A dgv1720e1 4 181704707 181709399 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7512,esv917 M 271 0 0 "" NA18532 esv35033 4 181704707 181714661 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988159,essv6979355 M 771 0 1 "" NA18532 esv25596 4 181708173 181710747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15594 S 451 0 2 "" NA06985,NA12004 esv269473 4 181739998 181740083 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518478,essv2515610,essv2517679,essv2516273,essv2516910 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12815,NA12878,NA12891,NA12892 esv273943 4 181740001 181740105 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581972,essv2582440,essv2582876 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv524530 4 181745675 181796230 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700480 S 2026 1 0 "" nsv880578 4 181755095 182072518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524235 S 6533 0 1 "" SP54930 nsv830162 4 181778952 181970089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444113 S 95 0 1 "" esv2633646 4 181785618 181787094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197792 S 1 0 1 "" NA18507 esv2333805 4 181786244 181786923 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658430 S 1 0 1 "" NA18507 esv4492 4 181786339 181786792 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26933 S 1 0 1 Single Asian sample YH "" YH esv9022 4 181786407 181786744 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31463 S 1 0 1 "" SJK dgv182n6 4 181786423 181786748 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv291026,nsv292022 M 24 "" esv2086898 4 181790098 181790531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860996 S 1 0 1 "" NA18507 nsv881021 4 181884200 181994416 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565443 S 6533 1 0 "" IS30423 nsv880552 4 181936638 182125897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594181 S 6533 0 1 "" IS39718 nsv820544 4 181972094 181978096 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420462 S 1 0 1 "" NA10851 nsv819919 4 181972392 181977939 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419716 S 2 1 0 "" AK1 esv23721 4 181972798 181977717 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20274,esv15356 M 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv4619 4 181986267 182008117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3309 S 9 1 0 "" NA12878 nsv881539 4 182038046 182087251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504875 S 6533 0 1 "" SP52835 esv1002941 4 182081173 182086461 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564892 S 3 1 0 "" HuRef esv1085792 4 182103348 182103397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833105 S 2 0 1 "" HuRef esv2444927 4 182113151 182115874 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257688 S 1 0 1 "" NA18507 esv2380073 4 182113593 182115501 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982638 S 1 0 1 "" NA18507 dgv133e180 4 182113640 182115340 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996038,esv998023 M 3 0 1 "" HuRef nsv513183 4 182113736 182115354 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626681 S 1 0 1 "" 1 esv3377 4 182113762 182115412 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25818 S 1 0 1 Single Asian sample YH "" YH dgv183n6 4 182113781 182115298 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv289983,nsv290062 M 24 "" esv1085044 4 182113796 182115298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797286 S 2 0 1 "" HuRef esv6148 4 182113800 182115282 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28589 S 1 0 1 "" SJK esv268085 4 182228890 182229159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506776,essv2502334,essv2502527,essv2507782,essv2493493,essv2503984,essv2504391 M 157 7 0 Samples from several populations that are part of the HapMap project. LINC00290 NA07037,NA07347,NA11918,NA12004,NA12750,NA12751,NA12763 nsv289836 4 182238469 182239791 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308414 M 24 LINC00290 nsv513184 4 182293086 182294552 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626682 S 1 0 1 LINC00290 1 esv3394 4 182293520 182294214 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25835 S 1 0 1 Single Asian sample YH LINC00290 YH dgv913n67 4 182293521 182294127 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822866,nsv822863,nsv822864 M 31 0 24 LINC00290 AK12,AK14,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv9004 4 182293551 182294123 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31445 S 1 0 1 LINC00290 SJK esv28836 4 182293552 182294187 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10958 S 451 0 13 LINC00290 NA06985,NA07045,NA11894,NA11995,NA12004,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA19240 esv1000775 4 182293553 182294122 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584425 S 3 0 1 LINC00290 HuRef esv1440270 4 182323434 182323434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162793 S 2 1 0 "" HuRef nsv4621 4 182382103 182405490 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2494,nssv7132,nssv9403,nssv4798,nssv9653 M 9 5 0 "" NA12156,NA18507,NA18517,NA18555,NA19129 nsv509026 4 182392270 182406641 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623422,nssv618030 M 4 2 0 "" CHM,NA18994 nsv292979 4 182396464 182403082 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311557 M 24 "" nsv820726 4 182397220 182400032 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420463 S 1 0 1 "" NA10851 esv24394 4 182397278 182399949 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14175 S 451 16 7 "" NA07037,NA07045,NA11894,NA11993,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18858,NA18909,NA19099,NA19129,NA19147,NA19190,NA19240,NA19257 esv2593862 4 182526217 182526379 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210967 S 1 1 0 "" NA18507 nsv830163 4 182549912 182713864 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444114 S 95 1 0 "" nsv507222 4 182551665 182557665 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620276 S 4 1 0 "" NA15510 nsv880700 4 182564937 182591090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559697 S 6533 1 0 "" MS24098 nsv290382 4 182580374 182582141 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308960 M 24 "" nsv522151 4 182636689 182658809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694136 S 2026 0 1 "" nsv4622 4 182645214 182677702 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10432 S 9 1 0 "" NA18956 nsv822867 4 182654558 182655008 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427460 S 31 1 0 "" AK8 esv268506 4 182655016 182655101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513766,essv2518301 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19240 esv274573 4 182655016 182655101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581200 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2511236 4 182763621 182763749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350888 S 1 0 1 "" NA18507 nsv830164 4 182808800 182988298 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444115 S 95 1 0 "" nsv520076 4 182838238 182838603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693863,nssv660521 M 2026 0 2 "" dgv1721e1 4 182868474 182886805 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7053,esv1401 M 271 0 0 "" NA18612 nsv818302 4 182871470 182880201 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417354 S 112 0 1 "" NA18612 esv2515132 4 182952440 182952814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175194 S 1 0 1 "" NA18507 nsv4623 4 183001749 183023263 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8036 S 9 1 0 "" NA12156 esv2228085 4 183013988 183014437 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818132 S 1 0 1 "" NA18507 nsv291589 4 183014141 183014224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310167 M 24 "" esv1000469 4 183082747 183087195 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563969 S 3 0 1 "" HuRef nsv4624 4 183083482 183099543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8037 S 9 1 0 "" NA12156 nsv289372 4 183172085 183172200 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307950 M 24 "" esv989319 4 183172106 183172181 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566511 S 3 0 1 "" HuRef nsv290818 4 183172180 183172180 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309396 M 24 "" esv1458841 4 183172200 183172276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197798 S 2 0 1 "" HuRef nsv293084 4 183198144 183198318 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311662 M 24 "" nsv822868 4 183205133 183207555 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436583 S 31 0 1 "" NA18542 nsv4625 4 183205500 183233189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4799 S 9 1 0 "" NA19129 nsv520666 4 183212068 183216805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687594,nssv678016,nssv673719 M 2026 0 3 "" esv2037327 4 183272239 183272664 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810563 S 1 0 1 "" NA18507 esv1374604 4 183283306 183283367 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777776 S 2 0 1 "" HuRef nsv461855 4 183358225 183374606 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538193 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00023 esv275175 4 183383605 183387710 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585321 S 1250 0 1 "" nsv881241 4 183398772 183446548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557184,nssv1544956 M 6533 0 2 "" MS16611,MS22465 nsv461856 4 183433518 183466215 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538194 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01057 nsv880355 4 183437139 183497595 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581532,nssv1557423 M 6533 0 2 ODZ3 IS35622,MS22677 dgv5847n71 4 183451578 183512752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880793,nsv881083 M 6533 0 2 ODZ3 IS30435,MS22146 nsv461857 4 183466215 183494456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538195 S 1557 0 1 ODZ3 1782681086_A dgv5848n71 4 183473721 183512752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881374,nsv880959 M 6533 0 9 ODZ3 IS34996,IS41860,IS41898,IS41926,MS14485,MS19721,MS19798,MS20286,MS21189 dgv5849n71 4 183473721 183528459 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881321,nsv881361,nsv880362 M 6533 0 4 ODZ3 IS30976,IS40657,IS41867,MS18742 nsv520838 4 183484105 183494456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676284,nssv705374,nssv701553,nssv687990 M 2026 0 4 ODZ3 nsv528891 4 183491655 183508343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705575 S 2026 0 1 ODZ3 nsv524982 4 183509583 183531964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701011 S 2026 0 1 ODZ3 nsv518484 4 183526619 183531964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695923 S 2026 0 1 ODZ3 esv268662 4 183537729 183537814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513995 S 157 1 0 Samples from several populations that are part of the HapMap project. ODZ3 NA19143 nsv822869 4 183592653 183595438 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438794 S 31 1 0 ODZ3 NA18973 nsv520498 4 183641347 183642500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671876,nssv681226 M 2026 0 2 ODZ3 nsv518587 4 183641347 183649713 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696034 S 2026 1 0 ODZ3 esv5240 4 183675433 183675976 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27681 S 1 0 1 Single Asian sample YH ODZ3 YH esv7165 4 183675499 183675831 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29606 S 1 0 1 ODZ3 SJK esv1557171 4 183779805 183779859 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286560 S 2 0 1 ODZ3 HuRef nsv10620 4 183786756 183791613 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13971 S 31 0 1 Samples from several populations that are part of the HapMap project. ODZ3 NA18860 esv269309 4 183788504 183788816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510563,essv2507372,essv2498920 M 157 3 0 Samples from several populations that are part of the HapMap project. ODZ3 NA18501,NA18912,NA19138 dgv1722e1 4 183795310 183979341 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10412,esv172 M 271 0 0 ODZ3 NA19222 nsv10621 4 183806136 183809141 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv11740,nssv12804,nssv12382,nssv13718,nssv12466,nssv12934 M 31 0 6 Samples from several populations that are part of the HapMap project. ODZ3 NA10839,NA12155,NA12802,NA18552,NA18942,NA18975 esv25967 4 183807065 183808993 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15642 S 451 0 2 ODZ3 NA12006,NA12749 nsv822870 4 183807071 183809008 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422576,nssv1429772,nssv1437417,nssv1435057,nssv1429938,nssv1428245,nssv1429016 M 31 0 7 ODZ3 AK10,AK12,AK14,NA18552,NA18592,NA18942,NA18949 nsv517941 4 183847905 183850027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694184 S 2026 0 1 ODZ3 nsv290381 4 183878524 183885602 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308959 M 24 ODZ3 nsv819047 4 183911574 183911744 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418948 S 2 1 0 ODZ3 AK1 nsv4626 4 183915263 183925182 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8038 S 9 0 1 ODZ3 NA12156 nsv509027 4 183954723 184032383 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619390 S 4 1 0 ODZ3 NA10860 nsv822871 4 183957657 183959129 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432814 S 31 1 0 ODZ3 NA18972 nsv10622 4 183963351 183987452 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14940 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv4627 4 183971105 184003641 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2495 S 9 1 0 "" NA18555 esv2537755 4 183988987 183993272 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372548 S 1 0 1 "" NA18507 esv1000704 4 183989363 183992779 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564696 S 3 1 0 "" HuRef esv23963 4 183990615 183991140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16495 S 451 0 1 "" NA11931 nsv881410 4 184039711 184052555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570700 S 6533 0 1 DCTD IS32322 esv24217 4 184075138 184075680 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18936 S 451 0 1 DCTD NA07045 esv1002331 4 184101863 184102212 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578596 S 3 0 1 "" HuRef nsv461858 4 184117028 184169679 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538196 S 1557 0 1 "" 1780854537_A esv2124645 4 184129036 184129413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685387 S 1 0 1 "" NA18507 nsv4628 4 184148305 184186373 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8039 S 9 0 1 "" NA12156 nsv517885 4 184208020 184247711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694176 S 2026 0 1 "" esv25512 4 184222925 184225797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17118 S 451 0 1 "" NA19108 nsv822872 4 184255397 184259066 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432815 S 31 1 0 C4orf38,WWC2 NA18972 esv26194 4 184256339 184258253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16699 S 451 0 1 C4orf38,WWC2 NA07045 nsv4629 4 184309211 184354135 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8040 S 9 0 1 WWC2 NA12156 nsv292991 4 184322413 184322515 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311569 M 24 WWC2 esv1447400 4 184322430 184322533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138749 S 2 0 1 WWC2 HuRef nsv290254 4 184322467 184322565 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308832 M 24 WWC2 esv8514 4 184360047 184360103 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30955 S 1 1 0 WWC2 SJK esv21553 4 184384518 184388475 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15307 S 451 0 1 WWC2 NA18511 nsv507223 4 184386154 184392154 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620277,nssv621775 M 4 2 0 WWC2 NA10860,NA15510 esv6918 4 184432243 184432308 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29359 S 1 1 0 WWC2 SJK nsv528100 4 184465242 184468459 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704640 S 2026 1 0 WWC2 nsv291100 4 184494865 184495242 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309678 M 24 "" esv27448 4 184494926 184495516 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18634 S 451 2 0 "" NA18523,NA19147 esv1365763 4 184495225 184495561 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227312 S 2 0 1 "" HuRef dgv330n21 4 184508013 184508621 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522865,nsv520410 M 2026 0 2 "" nsv291830 4 184518092 184518092 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310408 M 24 "" nsv4630 4 184534951 184553345 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4800 S 9 0 1 "" NA19129 esv2467369 4 184539798 184541402 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168360 S 1 0 1 "" NA18507 esv2413766 4 184540506 184541196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595475 S 1 0 1 "" NA18507 esv3540 4 184540605 184541064 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25981 S 1 0 1 Single Asian sample YH "" YH esv993187 4 184540682 184541004 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584949 S 3 0 1 "" HuRef esv1712003 4 184540697 184541020 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833021 S 2 0 1 "" HuRef esv8207 4 184540698 184541010 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30648 S 1 0 1 "" SJK nsv499607 4 184548851 184552192 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585938 S 9 0 1 "" esv22218 4 184548881 184552195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11966 S 451 0 5 "" NA18517,NA18523,NA18916,NA19129,NA19257 nsv514282 4 184549152 184552032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627723 S 1414 0 1 "" esv989661 4 184562166 184562827 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586382 S 3 1 0 "" HuRef nsv4633 4 184565152 184600159 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv432 S 9 1 0 "" NA19240 esv1620699 4 184572348 184572834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157141 S 2 0 1 "" HuRef esv26305 4 184592084 184626687 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19693 S 451 1 0 CDKN2AIP NA19108 esv1262337 4 184622415 184622481 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649359 S 2 0 1 "" HuRef nsv830165 4 184623256 184806566 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444116 S 95 0 1 ING2,LOC389247,RWDD4 nsv822873 4 184660731 184665381 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432816 S 31 1 0 ING2,LOC389247 NA18972 esv2460654 4 184710512 184712116 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380499 S 1 0 1 "" NA18507 esv2012964 4 184710939 184711895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760432 S 1 0 1 "" NA18507 esv2479309 4 184711143 184711309 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322846 S 1 0 1 "" NA18507 nsv881675 4 184728903 185129628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563495 S 6533 1 0 C4orf41,RWDD4,STOX2 MS26061 dgv5850n71 4 184731264 184820224 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880322,nsv880919 M 6533 2 0 C4orf41,RWDD4 MS23973,MS26050 nsv509951 4 184741346 184747346 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623969 S 4 0 1 "" NA18994 nsv527483 4 184762528 184763434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703930 S 2026 0 1 "" nsv293696 4 184783483 184783483 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312274 M 24 "" nsv508338 4 184864852 184917846 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618761 S 4 0 1 C4orf41 NA10860 esv3384 4 184869766 184869999 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25825 S 1 0 1 Single Asian sample YH C4orf41 YH esv1002560 4 184869818 184869907 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584475 S 3 0 1 C4orf41 HuRef esv1205233 4 184869818 184869908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245651 S 2 0 1 C4orf41 HuRef nsv292013 4 184869819 184869908 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310591 M 24 C4orf41 nsv4634 4 184872051 184924535 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7133,nssv4801 M 9 0 2 "" NA12156,NA19129 nsv881015 4 184875754 184928579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546558 S 6533 0 1 "" MS17208 esv1034233 4 184881430 184881430 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071082 S 2 1 0 "" HuRef esv1001563 4 184890075 184897276 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563741 S 3 0 1 "" HuRef nsv513185 4 184892062 184895979 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626683 S 1 0 1 "" 1 nsv499634 4 184892811 184895980 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585939 S 9 0 1 "" esv1206156 4 184892827 184895979 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908613 S 2 0 1 "" HuRef nsv511268 4 184910262 184917900 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624877 S 1 0 1 "" 1 nsv513186 4 184911090 184914186 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626684 S 1 0 1 "" 1 esv1009211 4 184911271 184912387 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586892 S 3 0 1 "" HuRef dgv914n67 4 184911271 184912650 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822875,nsv822874 M 31 0 11 "" AK10,AK18,AK4,AK8,NA18552,NA18592,NA18947,NA18949,NA18951,NA18972,NA18997 esv1011343 4 184911291 184912750 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579071 S 3 0 1 "" HuRef esv22792 4 184911463 184913522 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10409,esv19978 M 451 0 10 "" NA07037,NA11894,NA11993,NA12004,NA12156,NA12489,NA12749,NA19108,NA19129,NA19225 esv1006448 4 184911612 184912578 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586740 S 3 0 1 "" HuRef nsv822877 4 184953793 184958035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432818 S 31 1 0 "" NA18972 nsv4635 4 184963673 185008525 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8041 S 9 0 1 "" NA12156 nsv292871 4 184991849 184992161 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311449 M 24 "" esv1554814 4 185009268 185009268 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879458 S 2 1 0 "" HuRef esv1392386 4 185009304 185009304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920117 S 2 1 0 "" HuRef esv1505280 4 185010502 185010502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137999 S 2 1 0 "" HuRef esv1005590 4 185015546 185015546 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570608 S 3 1 0 "" HuRef nsv290257 4 185015568 185015568 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308835 M 24 "" esv1304774 4 185015576 185015576 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357551 S 2 1 0 "" HuRef esv1005397 4 185015599 185015599 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565953 S 3 1 0 "" HuRef nsv292077 4 185015601 185015601 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310655 M 24 "" nsv4636 4 185020659 185033723 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv433 S 9 1 0 "" NA19240 esv2627109 4 185043674 185044685 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284735 S 1 1 0 "" NA18507 esv1199743 4 185044285 185044285 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604320 S 2 1 0 "" HuRef esv1008574 4 185044368 185044368 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582854 S 3 1 0 "" HuRef nsv822878 4 185063097 185065555 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432820 S 31 1 0 STOX2 NA18972 nsv830166 4 185082952 185247190 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444117 S 95 1 0 ENPP6,STOX2 esv2608282 4 185089815 185091312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340447 S 1 0 1 STOX2 NA18507 esv1964372 4 185090289 185090828 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757878 S 1 0 1 STOX2 NA18507 esv4197 4 185090364 185090856 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26638 S 1 0 1 Single Asian sample YH STOX2 YH nsv4637 4 185115878 185130828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8044 S 9 1 0 STOX2 NA12156 nsv521658 4 185215485 185279783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698275 S 2026 0 1 ENPP6 esv24706 4 185222559 185226500 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13124 S 451 0 1 "" NA19147 nsv441932 4 185223006 185226185 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514283 4 185224016 185226160 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627724 S 1414 0 0 "" nsv830167 4 185323840 185545945 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444131,nssv1444130,nssv1444123,nssv1444120,nssv1444119,nssv1444122,nssv1444121,nssv1444124,nssv1444127,nssv1444125,nssv1444126,nssv1444128,nssv1444132 M 95 13 0 ENPP6,IRF2,LOC728175 nsv819624 4 185344951 185351942 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419800 S 2 0 1 ENPP6 AK1 esv2598507 4 185377560 185379205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274005 S 1 0 1 "" NA18507 esv2124810 4 185377811 185378462 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811884 S 1 0 1 "" NA18507 nsv10623 4 185393361 185409114 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14970,nssv14023,nssv13778,nssv12407,nssv12496,nssv13977,nssv13023,nssv12834,nssv12969,nssv12596,nssv14053,nssv12315,nssv12276,nssv12306,nssv12999,nssv11830,nssv12065,nssv12487,nssv12948,nssv13381,nssv12035,nssv12964,nssv13289,nssv12898,nssv14024,nssv14573,nssv12412,nssv12482,nssv14001,nssv12452,nssv13994,nssv11719,nssv11951,nssv12805,nssv12345,nssv12740,nssv13902,nssv11800,nssv11689 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv821225 4 185394694 185408101 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420464 S 1 0 1 "" NA10851 esv22992 4 185395008 185406175 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16246 S 451 39 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820099 4 185395088 185406620 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418611 S 2 1 0 "" AK1 nsv822879 4 185395404 185405293 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439707,nssv1435058 M 31 2 0 "" NA18547,NA18942 nsv818303 4 185397123 185402601 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416236,nssv1416237 M 112 0 2 "" NA10851,NA12057 nsv441933 4 185397586 185404417 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1723e1 4 185397590 185404702 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18569,esv1166 M 271 0 0 "" NA10851 esv1049186 4 185531440 185531494 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992795 S 2 0 1 "" HuRef esv267711 4 185534154 185534451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513266,essv2498888 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19138 esv2535437 4 185535137 185536486 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356166 S 1 0 1 "" NA18507 nsv515626 4 185618577 185619055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664147,nssv660343 M 2026 0 2 IRF2 nsv528892 4 185618577 185620451 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705576 S 2026 0 1 IRF2 esv29408 4 185631269 185631968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19287 S 451 0 1 IRF2 NA07045 nsv830168 4 185784445 185959726 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444134,nssv1444133 M 95 0 2 ACSL1,CASP3,CCDC111,MLF1IP,SLED1 esv2039482 4 185810833 185811356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657408 S 1 0 1 CCDC111 NA18507 esv4506 4 185810954 185811371 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26947 S 1 0 1 Single Asian sample YH CCDC111 YH nsv291514 4 185811017 185811152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310092 M 24 CCDC111 nsv290083 4 185811116 185811233 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308661 M 24 CCDC111 esv1016309 4 185811120 185811208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082969 S 2 0 1 CCDC111 HuRef esv28607 4 185876508 185877062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11951 S 451 0 1 MLF1IP NA19240 esv2474838 4 185887996 185888958 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313729 S 1 1 0 MLF1IP NA18507 esv269847 4 185888626 185888990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503238,essv2495253,essv2504454,essv2499401,essv2508908,essv2500285,essv2502804,essv2494341,essv2504178,essv2502947,essv2496348,essv2506255,essv2505915,essv2493986,essv2513554,essv2509160,essv2501474,essv2504604,essv2506616,essv2499062,essv2509423,essv2493546,essv2498744,essv2497654,essv2512007,essv2501783,essv2498068,essv2501999,essv2503997,essv2499590 M 157 30 0 Samples from several populations that are part of the HapMap project. MLF1IP NA07037,NA07357,NA11881,NA11992,NA11993,NA11994,NA12878,NA12891,NA12892,NA18502,NA18505,NA18507,NA18510,NA18523,NA18861,NA18871,NA18907,NA18909,NA19093,NA19099,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19238,NA19239,NA19240,NA19257 esv273670 4 185888638 185888976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582166,essv2582482,essv2582994,essv2584231,essv2584537,essv2583371 M 7 6 0 Samples from several populations that are part of the HapMap project. MLF1IP NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2609981 4 185902196 185903906 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264668 S 1 0 1 "" NA18507 esv2056617 4 185902578 185903263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4781806 S 1 0 1 "" NA18507 esv3531 4 185902691 185903195 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25972 S 1 0 1 Single Asian sample YH "" YH esv2628975 4 185902766 185903083 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383798 S 1 0 1 "" NA18507 esv8157 4 185902767 185903080 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30598 S 1 0 1 "" SJK esv1630979 4 185902776 185903094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700356 S 2 0 1 "" HuRef nsv822880 4 185982093 185985736 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432821 S 31 1 0 ACSL1 NA18972 esv28765 4 185983447 185984587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13223 S 451 0 1 ACSL1 NA07045 esv2224216 4 185996442 185996828 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538280 S 1 0 1 "" NA18507 esv23203 4 186016351 186017176 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20193 S 451 0 1 "" NA18916 esv1697314 4 186016921 186016985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745057 S 2 0 1 "" HuRef nsv461859 4 186065671 186472542 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538197 S 1557 0 1 HELT,KIAA1430,SLC25A4,SNX25 1780862466_A nsv523168 4 186107377 186114437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698880 S 2026 0 1 "" esv272732 4 186112916 186113257 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581689,essv2582768 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv271954 4 186112918 186113192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521176,essv2556752,essv2570384,essv2576605,essv2552079,essv2577822,essv2576253,essv2537638,essv2528390,essv2540482,essv2560994,essv2527610,essv2548785 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11894,NA11994,NA12044,NA12154,NA12489,NA12761,NA12814,NA12878,NA12891,NA18552,NA18562,NA18952 esv3763 4 186120371 186120776 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26204 S 1 0 1 Single Asian sample YH "" YH esv1009609 4 186120564 186120671 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576544 S 3 0 1 "" HuRef esv1596033 4 186120567 186120675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068344 S 2 0 1 "" HuRef nsv291654 4 186120568 186120675 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310232 M 24 "" esv2495949 4 186123104 186126120 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294248 S 1 0 1 "" NA18507 esv26038 4 186123217 186126102 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19375 S 451 0 4 "" NA18508,NA19108,NA19114,NA19240 nsv822881 4 186174754 186179777 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432822 S 31 1 0 HELT NA18972 nsv822882 4 186214235 186214701 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424177 S 31 0 1 "" NA18582 esv2439752 4 186214255 186215265 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188227 S 1 1 0 "" NA18507 esv267913 4 186214776 186215119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576020,essv2521193,essv2526035,essv2522910,essv2544039,essv2568226,essv2523449,essv2531712,essv2577517,essv2521600,essv2576879,essv2552121,essv2558463,essv2564683,essv2578051,essv2565453,essv2564036,essv2555079,essv2530551,essv2539944,essv2557376,essv2556834,essv2532377,essv2562766,essv2550043,essv2558950,essv2536831,essv2539130,essv2527281,essv2544610,essv2562868,essv2523736,essv2541379,essv2538259,essv2542797,essv2540504,essv2534701,essv2561118,essv2539561,essv2549229,essv2519915,essv2559957,essv2566298,essv2531210,essv2532888,essv2568021,essv2528711,essv2567576,essv2570226,essv2563928,essv2553345,essv2535637,essv2572423,essv2559033,essv2566945,essv2550918,essv2543790,essv2556431,essv2527852,essv2562302,essv2539390,essv2533967,essv2573268,essv2533542,essv2566503,essv2530171,essv2573985,essv2527533,essv2522527,essv2531544,essv2573434,essv2543357,essv2577133,essv2572180,essv2526918,essv2529629,essv2575652,essv2575038,essv2538511,essv2526528,essv2560782,essv2524194,essv2560890,essv2574820,essv2572888,essv2568816,essv2560514,essv2549757,essv2571489,essv2546052,essv2574190,essv2551334,essv2548952,essv2524874 M 157 94 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11830,NA11894,NA11918,NA11931,NA11992,NA11995,NA12004,NA12006,NA12043,NA12144,NA12154,NA12489,NA12750,NA12751,NA12761,NA12812,NA12828,NA12872,NA12873,NA18489,NA18499,NA18501,NA18505,NA18507,NA18511,NA18516,NA18517,NA18519,NA18522,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18944,NA18948,NA18949,NA18951,NA18952,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273071 4 186214777 186215120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584387,essv2584763,essv2583630 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv881412 4 186228000 186281277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543114 S 6533 0 1 "" MS16049 nsv528030 4 186275568 186275651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704560 S 2026 0 1 "" nsv822883 4 186318628 186319227 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434394 S 31 1 0 KIAA1430 NA18570 esv989960 4 186320772 186322477 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563578 S 3 1 0 KIAA1430 HuRef esv28748 4 186337254 186339192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13825 S 451 0 1 KIAA1430 NA18523 esv22414 4 186367655 186368320 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11455 S 451 0 1 SNX25 NA07045 esv2309931 4 186379936 186380474 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500457 S 1 0 1 SNX25 NA18507 esv1669184 4 186382675 186382725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630220 S 2 0 1 SNX25 HuRef esv2466192 4 186391810 186393191 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361266 S 1 0 1 SNX25 NA18507 esv1972847 4 186392361 186393042 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837922 S 1 0 1 SNX25 NA18507 esv4547 4 186392484 186392964 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26988 S 1 0 1 Single Asian sample YH SNX25 YH esv1000121 4 186392539 186392849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577658 S 3 0 1 SNX25 HuRef esv1138598 4 186392548 186392859 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033366 S 2 0 1 SNX25 HuRef esv5569 4 186392549 186392851 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28010 S 1 0 1 SNX25 SJK esv2449161 4 186435441 186436875 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387716 S 1 0 1 SNX25 NA18507 esv2155800 4 186435666 186436375 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860223 S 1 0 1 SNX25 NA18507 esv4601 4 186435820 186436394 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27042 S 1 0 1 Single Asian sample YH SNX25 YH esv995230 4 186435859 186436177 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575062 S 3 0 1 SNX25 HuRef esv5811 4 186435860 186436181 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28252 S 1 0 1 SNX25 SJK nsv428456 4 186486814 186650565 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450212,nssv450215,nssv450214,nssv450213 M 62 1 3 ANKRD37,C4orf47,CCDC110,LRP2BP,SNX25,UFSP2 HGDP00449,HGDP00450,HGDP01093,HGDP01094 nsv881506 4 186546751 186768687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506847 S 6533 1 0 ANKRD37,C4orf47,CCDC110,PDLIM3,SORBS2,UFSP2 SP54408 dgv1724e1 4 186550119 186711690 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22651,esv445 M 271 0 0 ANKRD37,C4orf47,CCDC110,PDLIM3,UFSP2 NA12752 nsv527026 4 186562423 186790474 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703401 S 2026 1 0 C4orf47,CCDC110,PDLIM3,SORBS2,UFSP2 nsv4638 4 186588367 186622930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3142 S 9 1 0 C4orf47,CCDC110 NA18555 esv268794 4 186598879 186599218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516773,essv2517017,essv2514723,essv2515461,essv2518550,essv2515146,essv2516453,essv2517954,essv2514404,essv2517768,essv2515839,essv2517255,essv2519108,essv2519408,essv2513626 M 157 15 0 Samples from several populations that are part of the HapMap project. C4orf47 NA07346,NA07347,NA11881,NA11931,NA12234,NA12249,NA12287,NA12812,NA12814,NA12872,NA12874,NA12878,NA18969,NA18970,NA19141 esv273979 4 186598879 186599218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581480 S 7 1 0 Samples from several populations that are part of the HapMap project. C4orf47 NA12878 esv1192975 4 186598918 186598918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856164 S 2 1 0 C4orf47 HuRef nsv517035 4 186603309 186759037 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692693,nssv693963,nssv680355,nssv679927,nssv679238,nssv654362,nssv653650,nssv703441,nssv687893,nssv668995,nssv655312,nssv675030 M 2026 3 9 C4orf47,CCDC110,PDLIM3,SORBS2 esv2575908 4 186618442 186619519 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199696 S 1 1 0 CCDC110 NA18507 esv272660 4 186619113 186619252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578925 S 7 1 0 Samples from several populations that are part of the HapMap project. CCDC110 NA19239 esv267647 4 186619126 186619255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565664,essv2546446,essv2526153,essv2542241,essv2536433,essv2522773,essv2544012,essv2571049,essv2556621,essv2568402,essv2545483,essv2523236,essv2570378,essv2548353,essv2521612,essv2525522,essv2534996,essv2552090,essv2520561,essv2547484,essv2529131,essv2564660,essv2577841,essv2576319,essv2519998,essv2564051,essv2561749,essv2537487,essv2528444,essv2557497,essv2556910,essv2532411,essv2578534,essv2558841,essv2539033,essv2527393,essv2561425,essv2523686,essv2539558,essv2549236,essv2560077,essv2530976,essv2528835,essv2567384,essv2541528,essv2570120,essv2535600,essv2572286,essv2541925,essv2551105,essv2568894,essv2578472,essv2573085,essv2555471,essv2555723,essv2566382,essv2527648,essv2534379,essv2573715,essv2572049,essv2575525,essv2524088,essv2574763,essv2549904,essv2571146,essv2574469,essv2536139,essv2548844,essv2532969,essv2554511,essv2524905,essv2563366 M 157 72 0 Samples from several populations that are part of the HapMap project. CCDC110 NA06986,NA07037,NA07051,NA07346,NA07357,NA10847,NA11829,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12044,NA12045,NA12144,NA12156,NA12249,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12814,NA12815,NA12828,NA12874,NA12878,NA12891,NA18499,NA18501,NA18505,NA18510,NA18516,NA18519,NA18522,NA18523,NA18537,NA18563,NA18564,NA18570,NA18573,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18856,NA18858,NA18861,NA18940,NA18942,NA18943,NA18945,NA18948,NA18952,NA18959,NA18964,NA18973,NA19099,NA19129,NA19138,NA19225,NA19238,NA19240 nsv4639 4 186643879 186682321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7134 S 9 0 1 PDLIM3 NA12156 nsv508339 4 186659646 186692071 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619950 S 4 0 1 PDLIM3 NA15510 nsv511267 4 186677354 186684564 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624866 S 1 0 1 PDLIM3 1 esv2430031 4 186677907 186681601 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305662 S 1 0 1 PDLIM3 NA18507 nsv10624 4 186678265 186681515 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13932,nssv13411,nssv12375,nssv12800,nssv14007,nssv14054,nssv12835,nssv14603,nssv12864,nssv15000,nssv14031,nssv12928,nssv12994,nssv11749,nssv13319,nssv14113 M 31 16 0 Samples from several populations that are part of the HapMap project. PDLIM3 NA10839,NA18502,NA18504,NA18517,NA18537,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 esv2068423 4 186678442 186681258 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769144 S 1 0 1 PDLIM3 NA18507 nsv513187 4 186678512 186681200 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626685 S 1 0 1 PDLIM3 1 dgv915n67 4 186678578 186681078 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822886,nsv822884,nsv822885 M 31 0 27 PDLIM3 AK10,AK14,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821047 4 186678578 186681078 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420465 S 1 0 1 PDLIM3 NA10851 esv4371 4 186678593 186681179 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26812 S 1 0 1 Single Asian sample YH PDLIM3 YH dgv134e180 4 186678605 186681641 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989819,esv1001907 M 3 0 1 PDLIM3 HuRef esv28251 4 186678622 186681078 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10987 S 451 22 0 PDLIM3 NA12004,NA12006,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv499814 4 186678629 186681070 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585940 S 9 0 1 PDLIM3 esv9232 4 186678633 186681095 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31673 S 1 0 1 PDLIM3 SJK nsv830169 4 186692058 186875157 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444135,nssv1444136 M 95 1 1 PDLIM3,SORBS2 esv1001817 4 186700038 186700138 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573192 S 3 0 1 "" HuRef esv987752 4 186718852 186719046 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572207 S 3 0 1 "" HuRef nsv819075 4 186778256 186779746 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419275 S 2 0 1 SORBS2 AK1 nsv521198 4 186795144 186795854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697840 S 2026 0 1 SORBS2 nsv830171 4 186847107 187026265 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444137,nssv1444138 M 95 1 1 SORBS2 esv4636 4 186868186 186868408 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27077 S 1 0 1 Single Asian sample YH SORBS2 YH nsv4640 4 186897573 186931242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv435 S 9 1 0 SORBS2 NA19240 nsv4641 4 186934172 186967617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8045 S 9 1 0 SORBS2 NA12156 nsv507224 4 186968078 186974078 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622923 S 4 1 0 SORBS2 NA18994 esv267939 4 186981666 186981814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498272,essv2512729,essv2496132,essv2493960,essv2510477 M 157 5 0 Samples from several populations that are part of the HapMap project. SORBS2 NA18526,NA18577,NA18603,NA18871,NA19172 nsv512841 4 186984910 186985436 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625479 S 1 1 0 SORBS2 1 nsv291687 4 187066451 187066451 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310265 M 24 SORBS2 nsv509952 4 187081811 187087811 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622077 S 4 0 1 SORBS2 NA10860 esv1785784 4 187157908 187157908 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794173 S 2 1 0 "" HuRef dgv683n27 4 187166220 187368498 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461861,nsv461863,nsv461860 M 1557 3 0 CYP4V2,FAM149A,TLR3 HGDP00066,HGDP00191,HGDP00264 dgv5851n71 4 187166220 187385065 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881037,nsv880996,nsv880572,nsv880596,nsv880485,nsv880451,nsv880709,nsv880981,nsv881454,nsv880835 M 6533 45 0 CYP4V2,FAM149A,TLR3 IS30270,IS31096,IS31123,IS33351,IS33529,IS33544,IS33711,IS33857,IS34468,IS34733,IS34762,IS35545,IS35581,IS35742,IS36051,IS36071,IS37689,IS37987,IS38101,IS38231,IS38617,IS38618,IS38659,IS39081,IS39372,IS39408,IS39522,IS39788,IS39817,IS39958,IS40003,IS40137,IS40396,IS40849,IS40883,IS41168,IS41180,IS41801,MS14384,MS15482,MS16352,MS22998,MS23109,MS23775,SP81033 nsv880931 4 187166640 187223611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579357 S 6533 1 0 "" IS35088 nsv881424 4 187166640 187252083 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579990 S 6533 1 0 TLR3 IS35205 nsv470097 4 187168904 187368498 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546399 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP4V2,FAM149A,TLR3 HGDP00066 esv23736 4 187191352 187193725 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12800,esv15469 M 451 0 8 "" NA18502,NA18508,NA18861,NA19099,NA19114,NA19129,NA19147,NA19257 nsv292108 4 187192431 187192520 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310686 M 24 "" esv1147498 4 187192540 187192630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217249 S 2 0 1 "" HuRef esv2042619 4 187200928 187201439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588829 S 1 0 1 "" NA18507 nsv511254 4 187209735 187216693 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624722 S 1 0 1 "" 1 esv2583501 4 187214539 187216312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337071 S 1 0 1 "" NA18507 nsv513188 4 187214564 187217108 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626686 S 1 0 1 "" 1 esv29272 4 187214826 187216146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14428 S 451 0 1 "" NA12489 dgv5852n71 4 187241068 187385065 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880408,nsv881579,nsv880744 M 6533 3 0 CYP4V2,FAM149A,TLR3 IS30350,IS34804,IS35088 nsv461864 4 187243800 187493998 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538202 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP4V2,F11,FAM149A,KLKB1,LOC285441 HGDP00563 nsv830172 4 187249759 187405418 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444139 S 95 0 1 CYP4V2,FAM149A,KLKB1 esv1664656 4 187250663 187250663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645635 S 2 1 0 "" HuRef nsv290430 4 187250664 187250664 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309008 M 24 "" dgv5853n71 4 187256900 187344843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880404,nsv881590 M 6533 0 2 FAM149A IS39258,MS16387 esv22654 4 187262680 187263682 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17685 S 451 0 1 "" NA07045 nsv508340 4 187296167 187373952 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622513,nssv619951 M 4 0 2 CYP4V2,FAM149A NA15510,NA18994 nsv524972 4 187315860 187316041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700997 S 2026 0 1 FAM149A nsv4642 4 187322176 187373408 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8046,nssv3310,nssv4802,nssv2497 M 9 0 4 CYP4V2,FAM149A NA12156,NA12878,NA18555,NA19129 esv33576 4 187327012 187327502 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99997 S 51 1 0 FAM149A 22086 esv991339 4 187329071 187336461 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565038 S 3 0 1 FAM149A HuRef dgv47n50 4 187329469 187336037 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511265,nsv513189 M 1 0 1 FAM149A 1 dgv99n16 4 187329837 187335609 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435808,nsv436448 M 2 0 2 FAM149A NA15510,NA18505 esv2568129 4 187330069 187335722 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392292 S 1 0 1 FAM149A NA18507 nsv820150 4 187330342 187335229 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419667 S 2 1 0 FAM149A AK1 dgv916n67 4 187330415 187335282 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822888,nsv822889,nsv822890 M 31 0 26 FAM149A AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18999 nsv820551 4 187330415 187335282 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420466 S 1 0 1 FAM149A NA10851 esv270972 4 187330443 187330528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517538,essv2516948,essv2514711,essv2518619,essv2515074,essv2516337,essv2518053,essv2515912,essv2517667,essv2519487 M 157 10 0 Samples from several populations that are part of the HapMap project. FAM149A NA07346,NA11918,NA11931,NA12234,NA12287,NA12812,NA12814,NA12872,NA12873,NA12878 esv274663 4 187330443 187330528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581610 S 7 1 0 Samples from several populations that are part of the HapMap project. FAM149A NA12878 dgv135e180 4 187330483 187335282 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003368,esv1005596 M 3 1 0 FAM149A HuRef esv27795 4 187330507 187348434 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19408,esv13117 M 451 33 0 FAM149A NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv32667 4 187330558 187335607 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98693,essv100829,essv97968,essv95686,essv99960 M 51 5 0 FAM149A 21606,21656,21837,21841,22086 nsv514284 4 187330640 187335632 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627726 S 1414 0 1 FAM149A esv269589 4 187335205 187335529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517393,essv2514920,essv2517670,essv2519489,essv2513570 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11918,NA12812,NA12878 esv272742 4 187335205 187335529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581514 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv32596 4 187335313 187336063 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97806 S 51 1 0 "" 21837 nsv4644 4 187343748 187377439 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3143 S 9 1 0 CYP4V2 NA18555 nsv881231 4 187373301 187394452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505568 S 6533 0 1 KLKB1 SP53687 nsv881472 4 187389136 187423999 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503548 S 6533 1 0 KLKB1 SP52077 esv2348562 4 187396905 187397304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849693 S 1 0 1 KLKB1 NA18507 esv2294811 4 187396950 187397683 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901764 S 1 0 1 KLKB1 NA18507 esv25841 4 187396973 187398259 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20173 S 451 0 1 KLKB1 NA19108 esv1184118 4 187397074 187397551 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072801 S 2 0 1 KLKB1 HuRef dgv186n6 4 187397400 187397857 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv293301,nsv291910 M 24 KLKB1 esv991336 4 187397527 187397919 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573065 S 3 0 1 KLKB1 HuRef nsv290547 4 187397874 187397932 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309125 M 24 KLKB1 esv24919 4 187399943 187405917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17206,esv15061 M 451 0 2 KLKB1 NA11894,NA12239 esv2505993 4 187450133 187452211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247437 S 1 0 1 LOC285441 NA18507 nsv513190 4 187450449 187452300 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626689 S 1 0 1 LOC285441 1 esv2100481 4 187450753 187451840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659566 S 1 0 1 LOC285441 NA18507 nsv822891 4 187450786 187451536 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425752 S 31 0 1 LOC285441 NA18968 esv996355 4 187450937 187451717 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570619 S 3 0 1 LOC285441 HuRef esv1700178 4 187450963 187451746 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608878 S 2 0 1 LOC285441 HuRef esv1001526 4 187451006 187451895 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586644 S 3 0 1 LOC285441 HuRef esv1489691 4 187456066 187456066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996831 S 2 1 0 LOC285441 HuRef nsv291453 4 187456125 187456125 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310031 M 24 LOC285441 esv2628463 4 187456141 187456254 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387727 S 1 0 1 LOC285441 NA18507 dgv1725e1 4 187498324 187659336 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7174,essv2451,essv6169,essv6336,esv413,essv23058,essv6694,essv24880,essv2877 M 271 0 0 LOC285441 NA07000,NA12812,NA18532,NA18547,NA18608,NA18609,NA18953,NA18999 esv26701 4 187529337 187530742 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20210 S 451 2 0 LOC285441 NA07045,NA18907 esv998208 4 187530295 187530397 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571421 S 3 0 1 LOC285441 HuRef nsv292413 4 187530381 187530586 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310991 M 24 LOC285441 dgv5854n71 4 187534226 187619288 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880669,nsv881663 M 6533 3 0 LOC285441 MS23117,MS23602,MS25285 dgv331n21 4 187536291 187550371 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524340,nsv518037 M 2026 0 2 LOC285441 nsv4645 4 187569034 187603334 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9880,nssv436 M 9 2 0 LOC285441 NA18507,NA19240 nsv509028 4 187572551 187662126 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619391 S 4 1 0 LOC285441 NA10860 nsv511242 4 187584691 187597770 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624588 S 1 0 1 LOC285441 1 esv1738514 4 187586265 187586265 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611539 S 2 1 0 LOC285441 HuRef esv1497346 4 187586408 187586529 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876143 S 2 0 1 LOC285441 HuRef esv989612 4 187587927 187594793 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565339 S 3 0 1 LOC285441 HuRef nsv435794 4 187588626 187594832 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466179 S 2 0 1 LOC285441 NA15510 esv1010363 4 187589114 187594590 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564435 S 3 1 0 LOC285441 HuRef nsv10625 4 187590038 187595119 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12467,nssv13029,nssv11809,nssv13349,nssv15030,nssv13053,nssv14633,nssv12405,nssv12512,nssv12336,nssv13962,nssv11981,nssv13024,nssv14143,nssv13471,nssv12830,nssv12517,nssv12626,nssv12472,nssv12526,nssv14061,nssv14114,nssv12865,nssv12125,nssv11860,nssv14037,nssv12894,nssv13808 M 31 28 0 Samples from several populations that are part of the HapMap project. LOC285441 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19221,NA19240 nsv821190 4 187590453 187594803 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420467 S 1 0 1 LOC285441 NA10851 esv1323666 4 187590478 187591466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836896 S 2 0 1 LOC285441 HuRef esv26679 4 187590518 187594803 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16854 S 451 30 0 LOC285441 NA06985,NA07045,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv1681070 4 187591514 187591928 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978193 S 2 0 1 LOC285441 HuRef esv1643447 4 187593062 187593890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841619 S 2 0 1 LOC285441 HuRef nsv10626 4 187603579 187606130 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12547 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC285441 NA11830 esv1017217 4 187623693 187623693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251409 S 2 1 0 LOC285441 HuRef esv23246 4 187634099 187637029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16522 S 451 0 16 LOC285441 NA07045,NA11894,NA12004,NA12156,NA12287,NA12414,NA12489,NA18508,NA18517,NA18523,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225 nsv513191 4 187634324 187636986 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626690 S 1 0 1 LOC285441 1 esv2229409 4 187634526 187635253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980209 S 1 0 1 LOC285441 NA18507 esv2456234 4 187634558 187637217 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345971 S 1 0 1 LOC285441 NA18507 nsv291244 4 187644134 187644183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309822 M 24 LOC285441 nsv525719 4 187648291 187758031 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701882 S 2026 1 0 FAT1,LOC285441,MTNR1A nsv4646 4 187694812 187729514 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv437 S 9 1 0 MTNR1A NA19240 esv1667505 4 187699007 187699007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916765 S 2 1 0 MTNR1A HuRef nsv289366 4 187699070 187699070 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307944 M 24 MTNR1A esv1214111 4 187705177 187705270 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313750 S 2 0 1 MTNR1A HuRef nsv290499 4 187768730 187768787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309077 M 24 FAT1 nsv291790 4 187768836 187768909 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310368 M 24 FAT1 nsv881509 4 187811392 187851428 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558112 S 6533 1 0 FAT1 MS23117 dgv5855n71 4 187811392 190020111 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881195,nsv881228 M 6533 2 0 FAT1,LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 MS23117,MS25285 dgv917n67 4 187877275 187890068 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822893,nsv822892 M 31 2 0 FAT1 AK10,AK6 nsv822894 4 187880343 187885413 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432825 S 31 1 0 FAT1 NA18972 nsv880401 4 187905789 188284137 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558890 S 6533 1 0 "" MS23602 esv2462122 4 187979200 187980249 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276289 S 1 1 0 "" NA18507 esv1466180 4 187979681 187979681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298651 S 2 1 0 "" HuRef nsv525720 4 188029659 188663123 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701883 S 2026 1 0 LOC339975 esv2479182 4 188031960 188033586 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360209 S 1 0 1 "" NA18507 esv2357947 4 188032504 188033222 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956518 S 1 0 1 "" NA18507 esv4183 4 188032672 188033147 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26624 S 1 0 1 Single Asian sample YH "" YH esv2650471 4 188032692 188033011 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323456 S 1 0 1 "" NA18507 dgv187n6 4 188032692 188033027 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292007,nsv291075 M 24 "" esv993680 4 188032702 188033021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582695 S 3 0 1 "" HuRef esv1152056 4 188032707 188033027 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752476 S 2 0 1 "" HuRef esv9056 4 188032713 188033016 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31497 S 1 0 1 "" SJK nsv4647 4 188057585 188092237 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4803 S 9 0 1 "" NA19129 esv2607441 4 188063380 188063553 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310899 S 1 0 1 "" NA18507 nsv818304 4 188074629 188085069 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416437 S 112 0 1 "" NA18517 nsv499558 4 188080671 188087405 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585941 S 9 0 1 "" nsv818305 4 188080720 188085069 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416924,nssv1416439 M 112 0 2 "" NA18515,NA19137 esv2421996 4 188080720 188085290 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079852,essv5133393,essv5107296,essv5146899,essv5057163,essv5088802,essv5068344,essv5084223,essv5006448,essv5071943,essv5023039,essv5089027,essv5014304,essv5154784,essv5006811,essv5038193,essv5038917,essv5159257,essv5046759,essv5018863,essv5096740,essv5029209,essv5075159,essv5076541,essv5098666,essv5055938,essv5119471,essv5062506,essv5002038,essv5145787,essv5007197,essv5141950,essv5027757,essv5005241,essv5136975,essv5062411,essv5141886,essv5152210,essv5023239,essv5056579,essv5103465,essv5030664,essv5057675 M 1184 0 43 "" NA18515,NA18517,NA18867,NA18868,NA18869,NA18873,NA18875,NA19031,NA19095,NA19097,NA19128,NA19129,NA19137,NA19153,NA19181,NA19197,NA19206,NA19208,NA19315,NA19359,NA19373,NA19399,NA19439,NA19446,NA19448,NA19449,NA19455,NA19456,NA19469,NA19625,NA19723,NA19724,NA20287,NA20290,NA21302,NA21303,NA21364,NA21378,NA21438,NA21439,NA21493,NA21647,NA21722 nsv517774 4 188080720 188088282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656366,nssv688209,nssv664263,nssv656410,nssv677156,nssv663953,nssv674910,nssv676119,nssv663987,nssv679283,nssv673879,nssv671721,nssv660599,nssv683900,nssv653192,nssv686559,nssv682066,nssv658335,nssv670513,nssv671650 M 2026 0 20 "" esv22886 4 188080721 188087480 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9889,esv11724 M 451 1 2 "" NA11995,NA18517,NA19129 nsv880387 4 188082051 188180608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529605 S 6533 1 0 "" MS10065 nsv881568 4 188085069 188474188 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541951 S 6533 1 0 LOC339975 MS15571 nsv508341 4 188086133 188132987 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618762,nssv617505,nssv622514 M 4 0 3 "" CHM,NA10860,NA18994 nsv523635 4 188088282 190037480 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699435 S 2026 1 0 LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 esv34733 4 188094186 188115159 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979307,essv6979306 M 771 1 0 "" NA18524 nsv880738 4 188097357 188131704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500565,nssv1515384 M 6533 2 0 "" SP50032,SP56173 nsv441934 4 188099187 188115497 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv4648 4 188100634 188138336 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2498,nssv9881,nssv3311,nssv438,nssv7135,nssv4804 M 9 0 6 "" NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 esv34947 4 188102829 188115159 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979478,essv6979477 M 771 1 0 "" NA18562 nsv264 4 188112664 188143904 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv264 S 1 1 0 "" NA15510 nsv4649 4 188112664 188143904 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11095 S 9 1 0 "" NA15510 nsv10627 4 188116186 188141855 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12860,nssv14663,nssv14121,nssv12924,nssv11890,nssv13379,nssv13059,nssv12465,nssv13992,nssv14144,nssv12958,nssv12502,nssv13113,nssv12895,nssv14173,nssv12656,nssv12497,nssv12542,nssv12556,nssv13054,nssv14067,nssv11839,nssv12577 M 31 21 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA11830,NA12740,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173 esv1004075 4 188116260 188116260 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585236 S 3 1 0 "" HuRef esv1446485 4 188116313 188116313 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870857 S 2 1 0 "" HuRef nsv290249 4 188116314 188116314 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308827 M 24 "" esv994500 4 188116788 188132308 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563868 S 3 0 1 "" HuRef nsv820356 4 188117100 188132184 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420468 S 1 0 1 "" NA10851 nsv436436 4 188117177 188125807 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466180 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv515007 4 188117440 188125696 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628512 S 1414 0 0 "" esv22908 4 188117466 188131790 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11417 S 451 13 15 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12239,NA12414,NA12749,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19240,NA19257 nsv822895 4 188117466 188132184 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424180,nssv1434397,nssv1438797,nssv1430556,nssv1423378,nssv1426187,nssv1436587,nssv1439741,nssv1427465,nssv1431290,nssv1429776,nssv1440327,nssv1425733,nssv1439654,nssv1426633,nssv1432031,nssv1425763,nssv1437422,nssv1433627,nssv1430434,nssv1441041,nssv1421682,nssv1435061,nssv1428251,nssv1432826,nssv1424954,nssv1429019,nssv1438126,nssv1422580,nssv1435837 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv292573 4 188122057 188123402 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311151 M 24 "" nsv292574 4 188123810 188124041 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311152 M 24 "" esv1386909 4 188139796 188139796 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312193 S 2 1 0 "" HuRef esv1620274 4 188139869 188139920 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041883 S 2 0 1 "" HuRef nsv881416 4 188140470 188180608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515240 S 6533 0 1 "" SP56143 dgv5856n71 4 188153491 188729760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880299,nsv881584,nsv880452,nsv880756,nsv880494,nsv881294 M 6533 6 0 LOC339975 MS19397,SP52110,SP52614,SP54469,SP55107,SP81574 esv32613 4 188214937 189672239 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97904 S 51 1 0 LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 21837 esv27778 4 188224816 188225461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20975 S 451 0 1 "" NA12004 esv2307442 4 188229383 188229832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598362 S 1 0 1 "" NA18507 esv2752041 4 188277014 189258459 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982630,essv6986220,essv6986219,essv6982632,essv6982631,essv6988561 M 771 1 0 LOC339975,TRIML2,ZFP42 BEC_573 esv24805 4 188278835 188280445 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14254 S 451 0 2 "" NA12489,NA12776 nsv509953 4 188289985 188295985 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618195 S 4 0 1 "" CHM nsv4650 4 188326386 188338712 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8047 S 9 0 1 "" NA12156 nsv880579 4 188348052 189670284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558891 S 6533 1 0 LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 MS23602 nsv880478 4 188364826 190466776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527754 S 6533 0 1 LOC339975,LOC401164,TRIML1,TRIML2,ZFP42 SP80968 esv2580792 4 188371687 188373225 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333115 S 1 0 1 "" NA18507 esv1279822 4 188372851 188372923 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999152 S 2 0 1 "" HuRef nsv290875 4 188372889 188373104 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309453 M 24 "" esv1501570 4 188372947 188373019 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723617 S 2 0 1 "" HuRef nsv880750 4 188396635 188653495 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524083 S 6533 1 0 LOC339975 SP54836 nsv4651 4 188405287 188438792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3312 S 9 1 0 "" NA12878 esv273485 4 188437000 188437169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584276,essv2583463 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267509 4 188437000 188437283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570372,essv2576540,essv2535066,essv2520597,essv2564647,essv2553786,essv2559768,essv2564130,essv2555040,essv2561919,essv2557528,essv2553000,essv2565117,essv2561027,essv2539656,essv2549256,essv2522255,essv2565961,essv2535779,essv2555458,essv2533612,essv2566630,essv2522346,essv2543194,essv2576986,essv2560778,essv2560921,essv2574564,essv2568492,essv2571397,essv2574207,essv2537957,essv2554403 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA12044,NA12154,NA12249,NA12716,NA12751,NA12763,NA12776,NA12828,NA12872,NA12874,NA18499,NA18542,NA18558,NA18562,NA18563,NA18564,NA18571,NA18572,NA18608,NA18943,NA18944,NA18948,NA18960,NA18965,NA18970,NA19116,NA19137,NA19138,NA19147,NA19238,NA19240 nsv4652 4 188440460 188472068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4805 S 9 1 0 LOC339975 NA19129 esv2426614 4 188502088 188503545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205284 S 1 0 1 LOC339975 NA18507 esv2540875 4 188590311 188591110 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392915 S 1 1 0 LOC339975 NA18507 esv1683383 4 188610793 188610793 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596561 S 2 1 0 LOC339975 HuRef dgv5857n71 4 188669227 188740343 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880329,nsv880676,nsv881275 M 6533 3 0 "" SP52614,SP55107,SP57536 dgv5858n71 4 188676957 188981208 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881630,nsv881220,nsv881672 M 6533 3 0 "" IS34358,SP54408,SP54469 nsv519308 4 188698152 189124414 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672634,nssv684987,nssv655313,nssv663563,nssv657621,nssv687894,nssv662173,nssv679928 M 2026 6 2 "" dgv5859n71 4 188736622 188902608 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881655,nsv880757 M 6533 2 0 "" SP55107,SP81574 dgv5860n71 4 188736622 189185015 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881322,nsv880316 M 6533 2 0 ZFP42 MS19397,SP52110 esv2446790 4 188761620 188762542 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167283 S 1 1 0 "" NA18507 esv1003565 4 188831194 188831194 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583085 S 3 1 0 "" HuRef esv1411779 4 188831271 188831271 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128084 S 2 1 0 "" HuRef nsv291744 4 188831322 188831322 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310322 M 24 "" dgv918n67 4 188847630 188850036 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822897,nsv822896 M 31 0 3 "" AK14,NA18592,NA18969 esv3145 4 188850527 188850831 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25586 S 1 0 1 Single Asian sample YH "" YH esv1556404 4 188850603 188850701 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069949 S 2 0 1 "" HuRef nsv880937 4 188868975 190037480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534062 S 6533 0 1 LOC401164,TRIML1,TRIML2,ZFP42 MS11451 nsv10629 4 188882600 189301571 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12495,nssv12527 M 31 0 2 Samples from several populations that are part of the HapMap project. TRIML1,TRIML2,ZFP42 NA18537,NA18563 esv26067 4 188890712 188920525 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11068 S 451 0 1 "" NA18511 esv4845 4 188922418 188922996 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27286 S 1 0 1 Single Asian sample YH "" YH esv1579465 4 188922752 188922956 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211586 S 2 0 1 "" HuRef dgv5861n71 4 188922914 189185015 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881417,nsv880503,nsv881147,nsv880867 M 6533 4 0 ZFP42 SP52614,SP54469,SP55107,SP81574 esv273596 4 188923119 188923204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581510,essv2581132 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv271197 4 188923121 188923440 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558104,essv2576078,essv2571603,essv2521238,essv2526132,essv2543848,essv2568396,essv2531685,essv2548302,essv2521830,essv2576766,essv2550618,essv2535261,essv2520575,essv2547125,essv2520138,essv2537612,essv2539938,essv2557143,essv2552338,essv2532241,essv2569338,essv2544845,essv2564948,essv2534539,essv2565933,essv2531146,essv2567674,essv2563927,essv2535778,essv2541902,essv2562151,essv2533462,essv2567200,essv2566520,essv2527722,essv2556022,essv2573342,essv2577157,essv2525601,essv2526351,essv2524285,essv2574562,essv2568443,essv2574070,essv2554524 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11830,NA11840,NA11894,NA11918,NA11992,NA11995,NA12006,NA12045,NA12144,NA12154,NA12155,NA12249,NA12716,NA12717,NA12815,NA12878,NA18489,NA18501,NA18502,NA18505,NA18508,NA18526,NA18558,NA18561,NA18572,NA18573,NA18577,NA18603,NA18608,NA18856,NA18909,NA18944,NA18947,NA18948,NA18952,NA18956,NA18964,NA18970,NA18980,NA19114,NA19129,NA19138,NA19147,NA19240 nsv881478 4 188927301 189000645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526393 S 6533 1 0 "" SP57536 nsv461870 4 188935089 189458201 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538203 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRIML1,TRIML2,ZFP42 HGDP01033 nsv470098 4 188935089 189458201 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546400 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRIML1,TRIML2,ZFP42 HGDP01033 esv8532 4 188946219 188946338 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30973 S 1 1 0 "" SJK esv273793 4 188971484 188971862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580482 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv270821 4 188971539 188971865 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571587,essv2546506,essv2523368,essv2531822,essv2548556,essv2535409,essv2551973,essv2547240,essv2558618,essv2564634,essv2528428,essv2557563,essv2557023,essv2578643,essv2550026,essv2537110,essv2561533,essv2552942,essv2541423,essv2532561,essv2568057,essv2528856,essv2551121,essv2543578,essv2556215,essv2562484,essv2573785,essv2529458,essv2575629,essv2575254,essv2538665,essv2526504,essv2574944,essv2572695,essv2548060,essv2549970,essv2551509,essv2538122,essv2524991 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11840,NA11881,NA12004,NA12006,NA12045,NA12249,NA12489,NA12717,NA12750,NA12751,NA12891,NA18499,NA18501,NA18510,NA18511,NA18517,NA18523,NA18542,NA18545,NA18576,NA18577,NA18579,NA18858,NA18870,NA18871,NA18909,NA18951,NA19093,NA19099,NA19102,NA19108,NA19114,NA19138,NA19143,NA19210,NA19225,NA19257 nsv880758 4 188987957 189124414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593597 S 6533 1 0 "" IS39457 nsv880982 4 189000645 189325214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529606 S 6533 1 0 TRIML1,TRIML2,ZFP42 MS10065 nsv880523 4 189013372 189088685 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504490 S 6533 1 0 "" SP52531 nsv461871 4 189023832 189253930 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538204 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRIML2,ZFP42 HGDP00734 nsv292618 4 189050065 189054891 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311196 M 24 "" esv2579132 4 189053669 189055192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223514 S 1 0 1 "" NA18507 nsv822899 4 189057001 189057786 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425734 S 31 1 0 "" AK4 nsv880626 4 189066082 189199319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521667 S 6533 1 0 ZFP42 SP52523 nsv881101 4 189071169 190183902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527485 S 6533 1 0 LOC401164,TRIML1,TRIML2,ZFP42 SP58452 nsv7367 4 189076333 189155979 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9654,nssv9655,nssv7136 M 9 0 0 ZFP42 NA12156,NA18507 nsv513662 4 189106477 189112426 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626914 S 1 0 0 "" 1 nsv513663 4 189109484 189114686 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626915 S 1 0 0 "" 1 dgv332n21 4 189124414 189299208 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518420,nsv522793 M 2026 0 2 TRIML1,TRIML2,ZFP42 nsv880458 4 189124414 189425133 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565889 S 6533 1 0 TRIML1,TRIML2,ZFP42 IS30532 nsv830173 4 189136466 189360968 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444142,nssv1444141 M 95 2 0 TRIML1,TRIML2,ZFP42 nsv519300 4 189158434 189371102 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663679,nssv697630,nssv656925,nssv655244,nssv696505,nssv696256,nssv699576,nssv699315,nssv680541 M 2026 2 7 TRIML1,TRIML2,ZFP42 esv988495 4 189196364 189196485 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580998 S 3 0 1 "" HuRef esv1021949 4 189224869 189224931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759668 S 2 0 1 "" HuRef nsv880723 4 189230187 189381793 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521668 S 6533 1 0 TRIML1,TRIML2 SP52523 nsv509029 4 189289116 189348949 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620801 S 4 1 0 TRIML1 NA15510 nsv4653 4 189290157 189334909 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2499 S 9 0 1 TRIML1 NA18555 nsv4655 4 189291883 189326970 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8048,nssv439 M 9 2 0 TRIML1 NA12156,NA19240 nsv881676 4 189299208 189466210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526394 S 6533 1 0 TRIML1 SP57536 nsv821578 4 189308897 189313168 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420470 S 1 0 1 "" NA10851 esv22152 4 189309006 189312932 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14060 S 451 12 10 "" NA06985,NA11894,NA11993,NA11995,NA12004,NA12749,NA12776,NA18505,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv513192 4 189310848 189313266 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626691 S 1 0 1 "" 1 dgv1726e1 4 189321281 189500522 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv609,essv2175,essv3556 M 271 0 0 "" NA18960,NA18965 dgv333n21 4 189352225 189745232 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523625,nsv521081 M 2026 2 0 LOC401164 esv1019852 4 189355247 189355367 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932968 S 2 0 1 "" HuRef esv1607946 4 189355600 189355720 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353317 S 2 0 1 "" HuRef nsv880671 4 189358156 189380469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515585 S 6533 1 0 "" SP56223 esv1070997 4 189358409 189358409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211319 S 2 1 0 "" HuRef esv992006 4 189373808 189374487 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563852 S 3 0 1 "" HuRef nsv880585 4 189374527 190168624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528329,nssv1534544,nssv1531864,nssv1533973 M 6533 0 4 LOC401164 MS10685,MS11358,MS11666,SP81197 esv1377104 4 189374764 189374852 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265228 S 2 0 1 "" HuRef esv1382591 4 189374868 189374920 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731384 S 2 0 1 "" HuRef nsv881030 4 189376607 189547762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500306 S 6533 1 0 "" SP50038 nsv880745 4 189387650 189460285 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529607 S 6533 1 0 "" MS10065 nsv4656 4 189389297 189401423 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4808 S 9 1 0 "" NA19129 nsv507225 4 189393379 189399379 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621776 S 4 1 0 "" NA10860 nsv520727 4 189400592 189433686 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697578 S 2026 1 0 "" essv2748 4 189408040 189499240 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18965 nsv818306 4 189412645 189484474 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417467,nssv1417489 M 112 0 2 "" NA18960,NA18965 nsv461872 4 189425133 189927377 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538205 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC401164 HGDP00563 esv2457435 4 189426468 189428330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316216 S 1 0 1 "" NA18507 esv22466 4 189426977 189427912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11161 S 451 0 8 "" NA07045,NA11894,NA11993,NA12004,NA12414,NA18508,NA18858,NA18909 nsv821402 4 189426977 189427912 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420471 S 1 0 1 "" NA10851 esv1611552 4 189427151 189427201 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106188 S 2 0 1 "" HuRef nsv293045 4 189427152 189427751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311623 M 24 "" dgv136e180 4 189427169 189427818 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009465,esv1002631 M 3 0 1 "" HuRef esv6695 4 189427181 189427928 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29136 S 1 0 1 "" SJK esv991967 4 189427212 189427912 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586632 S 3 0 1 "" HuRef esv1175354 4 189427353 189427953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292377 S 2 0 1 "" HuRef nsv290238 4 189427354 189427953 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308816 M 24 "" essv3906 4 189452730 189467331 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18960 essv1075 4 189452730 189497802 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18990 nsv527972 4 189454590 189455150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704485 S 2026 0 1 "" nsv437952 4 189458201 189470288 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468702,nssv468701 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18960,NA18965 esv273664 4 189458443 189458799 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580191,essv2580349,essv2580741,essv2579495 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv267513 4 189458449 189458767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496499,essv2501135,essv2500109,essv2499295,essv2495558,essv2499137,essv2510875,essv2497708,essv2501865,essv2498115 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18516,NA18573,NA18605,NA18916,NA19114,NA19116,NA19147,NA19239,NA19240 nsv880486 4 189460285 189543176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521669 S 6533 1 0 "" SP52523 nsv880960 4 189470352 189532033 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556043 S 6533 0 1 "" MS21771 nsv881362 4 189484767 189773205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543164 S 6533 1 0 LOC401164 MS16066 nsv881263 4 189484767 190161177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584511 S 6533 1 0 LOC401164 IS37059 nsv528541 4 189499240 189827536 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705153 S 2026 1 0 LOC401164 nsv291922 4 189531170 189531170 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310500 M 24 "" esv1448902 4 189552033 189552033 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735092 S 2 1 0 "" HuRef esv1239230 4 189552469 189552542 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282952 S 2 0 1 "" HuRef esv1698973 4 189552980 189553126 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726410 S 2 0 1 "" HuRef esv1486107 4 189553150 189553296 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832345 S 2 0 1 "" HuRef nsv292969 4 189553424 189553481 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311547 M 24 "" nsv4657 4 189558728 189589572 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4809 S 9 1 0 "" NA19129 dgv5862n71 4 189568260 189607314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880269,nsv880349 M 6533 0 2 "" MS22741,SP51391 nsv881540 4 189568260 189891384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521670 S 6533 1 0 LOC401164 SP52523 nsv4658 4 189578646 189624495 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7137 S 9 0 1 LOC401164 NA12156 nsv527937 4 189581756 189582902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704445 S 2026 0 1 "" nsv508342 4 189588014 189624344 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622515 S 4 0 1 LOC401164 NA18994 esv24088 4 189598091 189607555 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19561,esv20399 M 451 14 4 "" NA11894,NA11993,NA12004,NA12287,NA12414,NA12776,NA18502,NA18505,NA18508,NA18523,NA18907,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv990599 4 189599465 189609846 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565580 S 3 0 1 "" HuRef esv2246561 4 189601073 189601715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682815 S 1 0 1 "" NA18507 esv1788111 4 189601282 189601344 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777002 S 2 0 1 "" HuRef esv1709327 4 189601367 189601550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815120 S 2 0 1 "" HuRef nsv820927 4 189602526 189607675 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420472 S 1 0 1 "" NA10851 nsv515008 4 189603008 189607280 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627021 S 1414 0 0 "" esv1769439 4 189603093 189604781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149947 S 2 0 1 "" HuRef esv1348137 4 189604785 189605011 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184558 S 2 0 1 "" HuRef esv1335620 4 189605372 189605429 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885247 S 2 0 1 "" HuRef esv1770362 4 189605460 189606476 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649771 S 2 0 1 "" HuRef nsv880465 4 189608238 189785534 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558882 S 6533 1 0 LOC401164 MS23587 dgv1727e1 4 189615390 189699815 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv434,essv16836 M 271 0 0 LOC401164 NA19205 nsv880733 4 189616514 189712678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589458 S 6533 1 0 LOC401164 IS38362 nsv471626 4 189625285 190029092 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551041,nssv551039,nssv551038,nssv551040,nssv549610,nssv551042,nssv551043 M 48 1 5 LOC401164 JK1688,NA10496,NA11323,NA15726,NA15732,NA17015 nsv880641 4 189625591 189674417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522717 S 6533 0 1 LOC401164 SP53401 nsv881102 4 189625591 190168624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539320 S 6533 0 1 LOC401164 MS14296 nsv10630 4 189632327 189639760 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13119 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC401164 NA12740 nsv880814 4 189633069 189670284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500215 S 6533 1 0 LOC401164 SP50038 esv1005886 4 189637738 189638359 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565718 S 3 1 0 LOC401164 HuRef nsv4659 4 189643355 189675518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7138,nssv11096,nssv3313 M 9 3 0 LOC401164 NA12156,NA12878,NA15510 nsv509030 4 189647824 189684654 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618031,nssv623423,nssv620802 M 4 3 0 LOC401164 CHM,NA15510,NA18994 esv2588233 4 189660037 189668156 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361165 S 1 0 1 LOC401164 NA18507 nsv266 4 189660929 189675518 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv266 S 1 1 0 LOC401164 NA15510 nsv820400 4 189660971 189668367 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420473 S 1 1 0 LOC401164 NA10851 nsv10631 4 189661025 189669905 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12954,nssv12607,nssv14022,nssv12525,nssv12011,nssv11920,nssv13501,nssv12925,nssv12586,nssv13409,nssv12890,nssv14151,nssv11869 M 31 1 12 Samples from several populations that are part of the HapMap project. LOC401164 NA11830,NA12802,NA12872,NA18502,NA18537,NA18552,NA18572,NA18853,NA18860,NA18975,NA18980,NA19173,NA19240 esv22665 4 189661323 189668367 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17528 S 451 0 13 LOC401164 NA11931,NA11995,NA12004,NA12287,NA12489,NA12776,NA12828,NA18861,NA18907,NA18909,NA19108,NA19147,NA19225 esv6968 4 189661609 189662171 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29409 S 1 0 1 LOC401164 SJK esv9015 4 189662475 189664855 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31456 S 1 0 1 LOC401164 SJK nsv10632 4 189673622 189676370 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13149,nssv12366,nssv14693,nssv12955 M 31 0 4 Samples from several populations that are part of the HapMap project. LOC401164 NA10863,NA12740,NA18972,NA18980 dgv107n17 4 189673823 189676995 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436976,nsv436975 M 60 0 2 LOC401164 NA10846,NA12801 nsv822900 4 189674042 189675875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424955,nssv1436588,nssv1424181,nssv1438798,nssv1434398,nssv1432032,nssv1433628,nssv1431291,nssv1427466 M 31 0 9 LOC401164 AK18,AK2,AK20,AK8,NA18526,NA18542,NA18570,NA18582,NA18973 esv5518 4 189674069 189675910 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27959 S 1 0 1 LOC401164 SJK esv2421448 4 189674080 189674443 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5102066,essv5071984,essv5156226,essv5077052,essv5134663,essv5121539,essv5155527,essv5103587,essv5060762,essv5105455,essv5051952,essv5036085,essv5010986,essv5071596,essv5091449,essv5092465,essv5063653,essv5041155,essv5140116,essv5124851,essv5054748,essv5141901,essv5068391,essv5157102,essv5018924,essv5040498,essv5074955,essv5075753,essv5058902,essv5073110,essv5157715,essv5100004,essv5146056,essv5147891,essv5116578,essv5109048,essv5100055,essv5030946,essv5111464,essv5030372,essv5031447,essv5081473,essv5096304,essv5086379,essv5041160,essv5079264,essv5042456,essv5149933,essv5107158,essv5096776,essv5002844,essv5139323,essv5055380,essv5061759,essv5075334,essv5004878,essv5134573,essv5017045,essv5133220,essv5131902,essv5048127,essv5145473,essv5028648,essv5034536,essv5124896,essv5114376,essv5078058,essv5032742,essv5132740,essv5079937,essv5055947,essv5113313,essv5129110,essv5004272,essv5148704,essv5146087,essv5129479,essv5031099,essv5057432,essv5079176,essv5150417,essv5010568,essv5030724,essv5067382,essv5015572,essv5053463,essv5050702,essv5045135,essv5122581,essv5104383,essv5128093,essv5137764,essv5156987,essv5140961,essv5029352,essv5025072,essv5029795,essv5130347,essv5077410,essv5153054,essv5142557,essv5156130,essv5096202,essv5118924,essv5096953,essv5068306,essv5156008,essv5112287,essv5148824,essv5122769,essv5074991,essv5152540,essv5085814,essv5071565,essv5101901,essv5030599 M 1184 0 116 LOC401164 NA10846,NA10854,NA10863,NA11840,NA12144,NA12234,NA12249,NA12264,NA12740,NA12750,NA12751,NA12801,NA12812,NA12875,NA12877,NA12890,NA17965,NA17969,NA17972,NA17974,NA17983,NA17987,NA17996,NA17998,NA18106,NA18109,NA18117,NA18118,NA18124,NA18133,NA18134,NA18135,NA18136,NA18140,NA18143,NA18144,NA18146,NA18148,NA18149,NA18153,NA18155,NA18160,NA18166,NA18526,NA18542,NA18543,NA18558,NA18570,NA18576,NA18582,NA18599,NA18602,NA18611,NA18620,NA18624,NA18633,NA18634,NA18635,NA18640,NA18641,NA18642,NA18685,NA18689,NA18747,NA18748,NA18945,NA18953,NA18957,NA18966,NA18972,NA18973,NA18977,NA18980,NA18994,NA19054,NA19056,NA19057,NA19058,NA19062,NA19074,NA19077,NA19083,NA19084,NA19086,NA19652,NA19682,NA19683,NA19771,NA19772,NA19794,NA19795,NA20126,NA20505,NA20541,NA20542,NA20543,NA20771,NA20774,NA20796,NA20803,NA20806,NA20807,NA20813,NA20816,NA20845,NA20846,NA20852,NA20853,NA20854,NA20858,NA20873,NA20874,NA20879,NA20899,NA21089,NA21115 nsv881314 4 189674443 190037480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522718 S 6533 0 1 LOC401164 SP53401 nsv881196 4 189677617 189808535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499572 S 6533 1 0 LOC401164 SP50038 esv2041006 4 189685660 189686035 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802764 S 1 0 1 LOC401164 NA18507 esv1053692 4 189685825 189685891 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076658 S 2 0 1 LOC401164 HuRef esv1009083 4 189712665 189713181 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586359 S 3 1 0 LOC401164 HuRef dgv5863n71 4 189715209 189763622 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880536,nsv881484,nsv881501 M 6533 3 0 LOC401164 MS15491,MS18540,MS19923 dgv5864n71 4 189715209 190226956 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881002,nsv881133 M 6533 2 0 LOC401164 MS23602,MS25285 nsv520778 4 189725728 189808535 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697604 S 2026 1 0 LOC401164 nsv881214 4 189736859 190002180 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589459 S 6533 1 0 LOC401164 IS38362 dgv5865n71 4 189759104 189837707 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880356,nsv880836 M 6533 0 4 LOC401164 IS30372,IS30567,MS19267,MS22421 esv1758244 4 189789456 189789456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809424 S 2 1 0 "" HuRef nsv881532 4 189824361 190020111 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499692 S 6533 1 0 "" SP50038 nsv881686 4 189913844 190112585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521671 S 6533 1 0 "" SP52523 nsv881173 4 189943798 190224899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564248 S 6533 0 1 "" IS30193 nsv830174 4 189952164 190149174 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444143 S 95 0 1 "" esv23711 4 189954639 189955330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18730 S 451 0 1 "" NA07045 esv1560942 4 189955209 189955209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241779 S 2 1 0 "" HuRef nsv527292 4 189972724 189974782 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703707 S 2026 0 1 "" esv1988573 4 189981753 189982283 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590143 S 1 0 1 "" NA18507 esv1665824 4 189981801 189981910 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635192 S 2 0 1 "" HuRef esv274352 4 189983371 189983702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584777,essv2583667 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv880433 4 189985301 190028097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563439 S 6533 0 1 "" MS26019 esv23754 4 189987743 189989611 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20104 S 451 0 2 "" NA18523,NA19129 esv2008136 4 190022377 190022802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678927 S 1 0 1 "" NA18507 esv1486926 4 190022536 190022618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959527 S 2 0 1 "" HuRef esv996013 4 190022580 190022661 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568276 S 3 0 1 "" HuRef nsv291714 4 190022603 190022684 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310292 M 24 "" nsv291631 4 190027706 190027706 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310209 M 24 "" dgv5866n71 4 190029985 190105091 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880739,nsv880989 M 6533 0 2 "" IS41263,MS20616 dgv5867n71 4 190029985 190199716 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880891,nsv881384 M 6533 2 0 "" IS30742,MS23117 dgv190n6 4 190030234 190030567 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv292873,nsv290562 M 24 "" esv1003597 4 190030237 190030555 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577355 S 3 0 1 "" HuRef esv7688 4 190030245 190030582 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30129 S 1 0 1 "" SJK esv21447 4 190032287 190033212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16185 S 451 0 8 "" NA07045,NA11894,NA11995,NA12006,NA12239,NA12878,NA18861,NA19108 esv29830 4 190058851 190063734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17682,esv20958 M 451 0 11 "" NA12004,NA12414,NA12489,NA12749,NA18517,NA18858,NA18907,NA18916,NA19099,NA19225,NA19240 esv2089376 4 190062891 190063272 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715653 S 1 0 1 "" NA18507 esv1744381 4 190063139 190063394 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990606 S 2 0 1 "" HuRef esv996662 4 190063144 190063398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570683 S 3 0 1 "" HuRef nsv291678 4 190063281 190063281 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310256 M 24 "" esv1285572 4 190063593 190063593 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116032 S 2 1 0 "" HuRef nsv880524 4 190065331 190330240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560267 S 6533 1 0 "" MS24400 nsv880290 4 190083625 190153814 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550695 S 6533 1 0 "" MS18540 nsv830175 4 190085116 190275313 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444144 S 95 1 0 "" nsv881300 4 190105091 190718765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502098 S 6533 0 1 HSP90AA4P SP50900 nsv881569 4 190122877 190168624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580169 S 6533 0 1 "" IS35236 esv2486478 4 190131337 190133701 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340451 S 1 0 1 "" NA18507 esv1946066 4 190131637 190132014 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958789 S 1 0 1 "" NA18507 esv28106 4 190131781 190133506 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17345 S 451 3 7 "" NA06985,NA11995,NA12004,NA12414,NA12489,NA18523,NA18861,NA19147,NA19190,NA19225 nsv821570 4 190131781 190133506 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420474 S 1 0 1 "" NA10851 esv1005317 4 190131876 190133476 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586147 S 3 0 1 "" HuRef esv1309147 4 190132195 190132286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296529 S 2 0 1 "" HuRef esv1424342 4 190132599 190133144 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246123 S 2 0 1 "" HuRef esv1002233 4 190133248 190133361 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568271 S 3 0 1 "" HuRef esv1152539 4 190133299 190133435 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796477 S 2 0 1 "" HuRef esv999561 4 190135282 190135367 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572087 S 3 0 1 "" HuRef esv1263947 4 190135393 190135479 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844189 S 2 0 1 "" HuRef esv1279449 4 190169515 190169569 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633634 S 2 0 1 "" HuRef dgv5868n71 4 190169807 190244592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880906,nsv880398,nsv880459,nsv881095,nsv880809 M 6533 0 16 "" IS38640,MS16074,MS23713,SP51243,SP51439,SP52607,SP54561,SP55405,SP56100,SP57254,SP58202,SP58416,SP58462,SP80945,SP81039,SP81560 esv1001508 4 190174390 190183871 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565173 S 3 0 1 "" HuRef nsv509031 4 190176852 190202385 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618032 S 4 1 0 "" CHM nsv830176 4 190179197 190387639 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444145 S 95 0 1 "" nsv461877 4 190183902 190243622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538207 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01245 esv1002481 4 190194492 190195650 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564465 S 3 1 0 "" HuRef esv2379653 4 190206489 190207229 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590857 S 1 0 1 "" NA18507 esv4699 4 190206632 190207202 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27140 S 1 0 1 Single Asian sample YH "" YH nsv528408 4 190206664 190226956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705000 S 2026 0 1 "" esv5556 4 190206669 190207027 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27997 S 1 0 1 "" SJK nsv292210 4 190206671 190207024 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310788 M 24 "" esv993947 4 190206677 190207736 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564066 S 3 0 1 "" HuRef esv991279 4 190206681 190207034 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566245 S 3 0 1 "" HuRef esv1459882 4 190206689 190207043 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209545 S 2 0 1 "" HuRef nsv513193 4 190208113 190210947 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626692 S 1 0 1 "" 1 esv2469073 4 190208838 190210887 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255623 S 1 0 1 "" NA18507 esv25706 4 190208957 190210802 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15446,esv16800 M 451 0 14 "" NA06985,NA11993,NA11995,NA12006,NA12749,NA12776,NA12828,NA15510,NA18909,NA18916,NA19099,NA19114,NA19147,NA19225 esv2190841 4 190208990 190209544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4991824 S 1 0 1 "" NA18507 esv1540021 4 190209215 190209215 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264439 S 2 1 0 "" HuRef esv1379841 4 190209677 190209920 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884808 S 2 0 1 "" HuRef esv1039761 4 190210016 190210286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907028 S 2 0 1 "" HuRef nsv293673 4 190210306 190210386 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312251 M 24 "" nsv4660 4 190251628 190263016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3144 S 9 1 0 "" NA18555 dgv1728e1 4 190260798 190503150 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv243,essv19533 M 271 0 0 "" NA12864 esv1157230 4 190263805 190263805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304330 S 2 1 0 "" HuRef esv1055692 4 190267193 190267193 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955546 S 2 1 0 "" HuRef nsv4661 4 190269221 190335517 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv440,nssv10433,nssv3314,nssv4810,nssv7139,nssv2500 M 9 0 6 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv517295 4 190271285 191128697 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669323,nssv654294,nssv702062,nssv692174,nssv696815,nssv696187,nssv701324,nssv682684,nssv691739,nssv674417,nssv662363,nssv654231,nssv694377,nssv670786,nssv700086,nssv660215,nssv688891,nssv702258,nssv680003,nssv703739,nssv682745,nssv682812,nssv685382 M 2026 16 7 FRG1,HSP90AA4P nsv508343 4 190286919 190315887 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617506,nssv618763,nssv622516 M 4 0 3 "" CHM,NA10860,NA18994 esv1386152 4 190288068 190288150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694086 S 2 0 1 "" HuRef dgv137e180 4 190288069 190288226 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008700,esv1008886 M 3 0 1 "" HuRef nsv291470 4 190288089 190288228 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310048 M 24 "" dgv138e180 4 190294408 190301274 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997673,esv998137 M 3 0 1 "" HuRef nsv513194 4 190294915 190301444 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626693 S 1 0 1 "" 1 nsv499278 4 190294992 190301283 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585942 S 9 0 1 "" nsv435778 4 190294992 190302735 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466181 S 2 0 1 "" NA15510 nsv293415 4 190294993 190301266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311993 M 24 "" esv5438 4 190294999 190301268 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27879 S 1 0 1 "" SJK esv1284675 4 190295008 190301282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253841 S 2 0 1 "" HuRef esv28820 4 190310908 190312054 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19542 S 451 0 1 "" NA19257 esv2426327 4 190312465 190314097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171890 S 1 0 1 "" NA18507 esv994273 4 190313429 190313507 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574207 S 3 0 1 "" HuRef esv26334 4 190313464 190313989 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16730 S 451 0 1 "" NA19225 esv1045434 4 190330610 190330610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087787 S 2 1 0 "" HuRef esv992294 4 190338538 190347942 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564717 S 3 0 1 "" HuRef esv2466939 4 190341978 190343912 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361941 S 1 0 1 "" NA18507 esv2020146 4 190342232 190342644 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811226 S 1 0 1 "" NA18507 esv2188943 4 190342288 190343193 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793259 S 1 0 1 "" NA18507 nsv513195 4 190342356 190343308 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626694 S 1 0 1 "" 1 nsv289995 4 190342440 190342599 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308573 M 24 "" esv1989761 4 190342575 190343412 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4609547 S 1 0 1 "" NA18507 nsv293648 4 190342579 190343277 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312226 M 24 "" esv8423 4 190342625 190343303 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30864 S 1 0 1 "" SJK esv24880 4 190342673 190343558 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12115 S 451 3 0 "" NA18502,NA18523,NA18858 nsv821381 4 190342673 190343558 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420475 S 1 0 1 "" NA10851 esv1292784 4 190342789 190343165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336424 S 2 0 1 "" HuRef nsv10633 4 190366695 190369839 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14174 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 nsv10634 4 190388418 190396508 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14723,nssv15060,nssv12984,nssv12978,nssv12557,nssv13838,nssv13143,nssv14204,nssv12532,nssv12572,nssv12555,nssv14181,nssv12985,nssv12616,nssv12396,nssv11950,nssv14052,nssv13469,nssv13179,nssv12920,nssv14127,nssv11899,nssv12988,nssv14203,nssv12686,nssv13531,nssv12155,nssv12041,nssv13114 M 31 0 29 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv513196 4 190390861 190393623 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626695 S 1 0 1 "" 1 esv27964 4 190390955 190393745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17860 S 451 0 36 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1479970 4 190391159 190391499 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027852 S 2 0 1 "" HuRef esv2421677 4 190391178 190391874 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5010278,essv5093801,essv5034758,essv5100247,essv5157157,essv5109388,essv5159621,essv5018784,essv5036038,essv5098235,essv5041830,essv5103832,essv5097326,essv5097091,essv5134709,essv5115175,essv5105758,essv5053498,essv5105491,essv5045448,essv5018894,essv5063398,essv5077430,essv5105963,essv5099499,essv5099268,essv5149846,essv5133937,essv5054853,essv5004074,essv5024385,essv5012677,essv5123968,essv5089510,essv5061636,essv5022244,essv5018941,essv5117337,essv5032141,essv5146471,essv5080640,essv5061013,essv5084376,essv5101530,essv5069014,essv5122217,essv5150941,essv5157397,essv5020582,essv5106574,essv5134740,essv5111535,essv5146088,essv5034387,essv5128372,essv5053598,essv5130388,essv5127628,essv5041011,essv5022290,essv5144145,essv5151078,essv5157846,essv5108312,essv5051407,essv5147702,essv5040671,essv5045061,essv5046872,essv5027582,essv5129789,essv5051918,essv5097227,essv5022430,essv5039952,essv5086425,essv5048608,essv5076876,essv5159335,essv5058993,essv5157287,essv5154283,essv5088919,essv5130907,essv5025277,essv5031895,essv5112480,essv5017245,essv5143014,essv5023551,essv5150170,essv5023408,essv5029488,essv5005161,essv5075825,essv5027711,essv5073843,essv5075506,essv5135839,essv5001997,essv5073293,essv5058559,essv5049637,essv5079077,essv5059559,essv5012116,essv5143318,essv5106305,essv5057509,essv5005956,essv5057716,essv5067462,essv5094991,essv5060211,essv5161201,essv5122764,essv5051724,essv5092227,essv5089920,essv5112295,essv5112288,essv5006953,essv5014962,essv5019279,essv5023202,essv5029260,essv5055379,essv5051794,essv5042044,essv5094706,essv5038317,essv5034574,essv5088553,essv5138050,essv5082906,essv5113090,essv5047405,essv5043986,essv5129206,essv5086510,essv5140080,essv5076554,essv5107491,essv5031563,essv5136588,essv5010336,essv5049014,essv5143712,essv5160576,essv5085596,essv5144713,essv5150955,essv5142969,essv5105229,essv5112263,essv5147260,essv5044870,essv5128583,essv5012854,essv5088698,essv5104645,essv5008701,essv5142536,essv5148369,essv5142822,essv5037601,essv5137512,essv5126004,essv5088861,essv5051647,essv5041053,essv5030130,essv5158222,essv5101336,essv5103645,essv5051869,essv5048569,essv5116421,essv5098258,essv5078443,essv5021320,essv5090359,essv5044500,essv5099114,essv5121392,essv5129342,essv5062379,essv5136645,essv5157981,essv5015100,essv5153973,essv5112857,essv5130314,essv5108774,essv5072503,essv5014376,essv5017493,essv5031869,essv5138653,essv5059967,essv5030837,essv5159806,essv5081993,essv5100755,essv5079708,essv5090042,essv5046176,essv5008114,essv5093096,essv5058208,essv5094273,essv5057165,essv5106335,essv5102052,essv5054349,essv5074170,essv5056477,essv5032414,essv5160853,essv5031981,essv5088758,essv5019053,essv5082207,essv5027956,essv5129148,essv5109659,essv5091448,essv5129565,essv5128892,essv5061972,essv5020357,essv5022038,essv5123881,essv5027617,essv5125958,essv5108014,essv5053965,essv5071764,essv5108048,essv5026304,essv5008948,essv5155400,essv5012661,essv5016718,essv5061767,essv5159467,essv5124357,essv5043855,essv5092385,essv5011833,essv5041441,essv5017692,essv5042782,essv5088688,essv5072710,essv5145489,essv5072960,essv5134107,essv5060997,essv5055152,essv5039344,essv5128115,essv5044545,essv5131029,essv5103529,essv5091143,essv5074656,essv5141420,essv5111414,essv5049351,essv5040784,essv5027733,essv5028403,essv5116888,essv5020527,essv5056377,essv5013344,essv5144456,essv5150146,essv5090596,essv5159731,essv5088738,essv5077728,essv5121006,essv5120071,essv5049704,essv5109966,essv5115201,essv5088679,essv5038519,essv5115747,essv5040471,essv5071901,essv5082870,essv5071143,essv5073683,essv5074977,essv5077903,essv5151897,essv5141685,essv5133333,essv5161176,essv5053905,essv5006605,essv5090431,essv5106351,essv5064314,essv5130442,essv5021524,essv5037782,essv5023534,essv5139137,essv5108373,essv5061964,essv5009898,essv5024631,essv5078535,essv5074685,essv5095848,essv5030923,essv5003646,essv5050598,essv5098204,essv5041717,essv5132806,essv5122707,essv5113055,essv5140229,essv5059204,essv5015577,essv5142143,essv5007233,essv5129864,essv5100239,essv5068266,essv5030905,essv5096469,essv5073469,essv5126185,essv5052792,essv5059830,essv5143223,essv5053473,essv5142486,essv5156810,essv5137389,essv5150375,essv5150919,essv5111840,essv5100260,essv5150723,essv5098338,essv5123943,essv5101124,essv5047741,essv5047186,essv5075976,essv5060149,essv5063117,essv5071001,essv5073516,essv5152297,essv5016920,essv5038404,essv5022868,essv5086461,essv5079360,essv5114632,essv5078179,essv5124349,essv5067749,essv5046184,essv5140023,essv5123936,essv5060990,essv5078576,essv5016776,essv5035938,essv5028953,essv5146000,essv5047655,essv5062949,essv5134449,essv5121080,essv5080451,essv5128273,essv5050921,essv5138769,essv5101095,essv5114955,essv5073208,essv5123511,essv5058855,essv5104061,essv5071809,essv5098453,essv5011660,essv5155788,essv5100938,essv5158220,essv5093853,essv5118895,essv5011171,essv5095204,essv5142294,essv5133444,essv5108388,essv5094738,essv5126169,essv5103664,essv5063155,essv5056592,essv5044688,essv5012048,essv5157187,essv5064415,essv5158546,essv5019269,essv5089684,essv5105709,essv5118181,essv5150370,essv5067486,essv5155437,essv5008863,essv5119476,essv5124532,essv5129545,essv5131278,essv5143325,essv5066179,essv5093113,essv5151966,essv5150898,essv5077110,essv5097442,essv5143762,essv5104811,essv5052502,essv5004072,essv5116111,essv5035022,essv5152615,essv5127639,essv5145539,essv5008062,essv5060424,essv5156838,essv5011074,essv5095161,essv5128787,essv5049005,essv5115443,essv5005795,essv5011992,essv5058790,essv5026511,essv5160591,essv5094806,essv5033386,essv5091957,essv5149584,essv5124839,essv5036822,essv5125710,essv5103259,essv5066067,essv5002497,essv5091619,essv5007089,essv5037160,essv5105260,essv5136251,essv5060787 M 1184 361 113 "" NA06984,NA06989,NA06991,NA06993,NA06994,NA07000,NA07014,NA07022,NA07029,NA07045,NA07051,NA07055,NA07346,NA07347,NA07357,NA10836,NA10837,NA10839,NA10840,NA10843,NA10847,NA10852,NA10853,NA10855,NA10859,NA10863,NA11830,NA11831,NA11839,NA11840,NA11881,NA11882,NA11891,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11995,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12146,NA12154,NA12156,NA12234,NA12239,NA12249,NA12272,NA12273,NA12275,NA12282,NA12286,NA12287,NA12336,NA12340,NA12341,NA12343,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12413,NA12489,NA12707,NA12716,NA12718,NA12748,NA12749,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12778,NA12801,NA12802,NA12813,NA12815,NA12827,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA17965,NA17969,NA17970,NA17972,NA17976,NA17980,NA17981,NA17986,NA17988,NA17989,NA17993,NA18102,NA18106,NA18108,NA18109,NA18112,NA18114,NA18124,NA18127,NA18128,NA18129,NA18131,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18150,NA18151,NA18152,NA18153,NA18154,NA18156,NA18157,NA18158,NA18160,NA18161,NA18166,NA18486,NA18487,NA18499,NA18504,NA18507,NA18508,NA18519,NA18542,NA18543,NA18544,NA18548,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18573,NA18577,NA18582,NA18593,NA18597,NA18605,NA18608,NA18609,NA18611,NA18616,NA18617,NA18621,NA18623,NA18628,NA18630,NA18631,NA18632,NA18634,NA18638,NA18642,NA18647,NA18670,NA18685,NA18694,NA18702,NA18740,NA18747,NA18748,NA18757,NA18853,NA18854,NA18868,NA18869,NA18940,NA18942,NA18948,NA18949,NA18951,NA18953,NA18955,NA18956,NA18959,NA18969,NA18971,NA18973,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18993,NA18994,NA18995,NA19005,NA19007,NA19009,NA19010,NA19036,NA19044,NA19054,NA19058,NA19063,NA19067,NA19068,NA19070,NA19072,NA19076,NA19077,NA19078,NA19083,NA19084,NA19085,NA19086,NA19101,NA19103,NA19116,NA19118,NA19119,NA19132,NA19137,NA19138,NA19149,NA19159,NA19160,NA19161,NA19179,NA19180,NA19197,NA19208,NA19209,NA19211,NA19214,NA19226,NA19237,NA19239,NA19247,NA19249,NA19256,NA19307,NA19319,NA19350,NA19382,NA19434,NA19443,NA19445,NA19468,NA19650,NA19652,NA19656,NA19661,NA19662,NA19663,NA19664,NA19670,NA19671,NA19675,NA19676,NA19677,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19701,NA19702,NA19708,NA19711,NA19714,NA19716,NA19718,NA19722,NA19725,NA19747,NA19748,NA19750,NA19755,NA19756,NA19762,NA19774,NA19777,NA19783,NA19788,NA19790,NA19794,NA19795,NA19796,NA19819,NA19828,NA19834,NA19835,NA19836,NA19904,NA19909,NA19914,NA19919,NA20276,NA20292,NA20294,NA20295,NA20337,NA20350,NA20358,NA20505,NA20506,NA20508,NA20510,NA20516,NA20518,NA20521,NA20525,NA20528,NA20531,NA20534,NA20539,NA20543,NA20581,NA20586,NA20752,NA20753,NA20754,NA20757,NA20758,NA20760,NA20761,NA20765,NA20769,NA20771,NA20772,NA20774,NA20778,NA20783,NA20785,NA20787,NA20790,NA20792,NA20796,NA20797,NA20799,NA20800,NA20802,NA20805,NA20807,NA20808,NA20809,NA20810,NA20812,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20847,NA20850,NA20851,NA20852,NA20853,NA20854,NA20858,NA20861,NA20862,NA20866,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20884,NA20887,NA20889,NA20890,NA20892,NA20894,NA20897,NA20899,NA20908,NA20911,NA21089,NA21094,NA21098,NA21099,NA21100,NA21101,NA21105,NA21106,NA21109,NA21113,NA21115,NA21118,NA21119,NA21123,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21311,NA21312,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21357,NA21362,NA21384,NA21386,NA21388,NA21390,NA21404,NA21420,NA21438,NA21441,NA21442,NA21454,NA21480,NA21487,NA21488,NA21491,NA21513,NA21519,NA21522,NA21524,NA21525,NA21528,NA21529,NA21580,NA21587,NA21611,NA21620,NA21717,NA21718,NA21722,NA21723,NA21738,NA21739,NA21740,NA21776 nsv433368 4 190391178 190446282 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463249 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12156 esv1684652 4 190391625 190391727 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341820 S 2 0 1 "" HuRef esv1054104 4 190393458 190393458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805518 S 2 1 0 "" HuRef nsv881352 4 190395723 190466776 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553318,nssv1598324 M 6533 1 1 "" IS41193,MS19923 nsv4662 4 190398999 190453918 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2501,nssv10434,nssv4811,nssv7140 M 9 0 4 "" NA12156,NA18555,NA18956,NA19129 nsv880871 4 190408129 190697598 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508102 S 6533 1 0 HSP90AA4P SP54585 nsv822901 4 190425635 190437314 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434399 S 31 0 1 "" NA18570 esv993178 4 190428196 190439957 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563813 S 3 0 1 "" HuRef nsv499448 4 190428594 190437460 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585943 S 9 0 1 "" esv26602 4 190428749 190437423 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18566,esv13929 M 451 0 14 "" NA07037,NA07045,NA11894,NA11995,NA12004,NA12287,NA12489,NA12749,NA18858,NA19099,NA19114,NA19129,NA19190,NA19257 dgv919n67 4 190428749 190437435 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822905,nsv822902,nsv822903,nsv822906,nsv822904 M 31 30 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv10635 4 190430402 190437704 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14813,nssv13173 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA18972 nsv514285 4 190431568 190436480 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627727 S 1414 0 1 "" nsv442933 4 190432112 190436258 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv8749 4 190435177 190435572 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31190 S 1 0 1 "" SJK nsv293355 4 190436036 190436036 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311933 M 24 "" nsv511244 4 190436087 190436554 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624611 S 1 0 1 "" 1 esv1927195 4 190437318 190437647 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906342 S 1 0 1 "" NA18507 nsv509032 4 190445705 190469797 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619392 S 4 1 0 "" NA10860 nsv470100 4 190460517 190993476 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546402,nssv546403,nssv546404,nssv546401 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSP90AA4P HGDP00057,HGDP00912,HGDP01033,HGDP01283 esv1941581 4 190465347 190466285 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845010 S 1 0 1 "" NA18507 esv22459 4 190465520 190467896 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20438 S 451 6 17 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18511,NA18517,NA19108,NA19147,NA19225,NA19240 esv1014343 4 190466547 190466757 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057543 S 2 0 1 "" HuRef dgv5869n71 4 190467521 190558584 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881177,nsv881178 M 6533 2 0 "" MS13040,MS19184 dgv684n27 4 190468410 190554472 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461880,nsv461879 M 1557 2 0 "" HGDP00912,HGDP01283 nsv461882 4 190468410 190993476 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538210 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSP90AA4P HGDP00057 esv27680 4 190472456 190473136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15277 S 451 0 14 "" NA11993,NA12004,NA12749,NA18508,NA18511,NA18517,NA18523,NA18907,NA18909,NA18916,NA19114,NA19129,NA19240,NA19257 dgv5870n71 4 190473031 190748034 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881486,nsv881631 M 6533 0 2 HSP90AA4P IS41193,SP80968 esv2649659 4 190490188 190491725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188375 S 1 0 1 "" NA18507 esv2048301 4 190490654 190491356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510413 S 1 0 1 "" NA18507 esv4469 4 190490749 190491255 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26910 S 1 0 1 Single Asian sample YH "" YH esv2508491 4 190490837 190491158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357756 S 1 0 1 "" NA18507 esv9103 4 190490845 190491186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31544 S 1 0 1 "" SJK esv1495875 4 190490847 190491169 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994905 S 2 0 1 "" HuRef dgv5871n71 4 190505753 190748034 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880388,nsv881572 M 6533 2 0 HSP90AA4P IS35436,IS36383 nsv292398 4 190513982 190513982 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310976 M 24 "" nsv469768 4 190520004 190668423 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649789 M 265 0 0 Samples from several populations that are part of the HapMap project. HSP90AA4P dgv1729e1 4 190520005 191002431 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv567,essv5721 M 271 0 0 HSP90AA4P NA18593 nsv428457 4 190520005 191013899 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450228,nssv450235,nssv450227,nssv450238,nssv450250,nssv450246,nssv450259,nssv450248,nssv450229,nssv450247,nssv450249,nssv450258,nssv450218,nssv450261,nssv450252,nssv450241,nssv450236,nssv450240,nssv450217,nssv450230,nssv450251,nssv450244,nssv450237,nssv450239,nssv450253,nssv450245,nssv450234,nssv450260 M 62 28 0 HSP90AA4P HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19147,NA19181,NA19189,NA19257 esv2649195 4 190521608 190523021 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368925 S 1 0 1 "" NA18507 esv2244034 4 190521865 190522288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678619 S 1 0 1 "" NA18507 esv29210 4 190521946 190522500 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11222 S 451 0 1 "" NA12749 esv2505710 4 190527409 190529079 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332972 S 1 0 1 "" NA18507 esv1010144 4 190528174 190528872 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564794 S 3 0 1 "" HuRef esv1943208 4 190528234 190528926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717138 S 1 0 1 "" NA18507 esv3482 4 190528364 190528828 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25923 S 1 0 1 Single Asian sample YH "" YH esv2586334 4 190528413 190528731 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244484 S 1 0 1 "" NA18507 nsv292091 4 190528413 190528731 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310669 M 24 "" esv7850 4 190528432 190528733 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30291 S 1 0 1 "" SJK esv2343171 4 190537905 190538456 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4817030 S 1 0 1 "" NA18507 esv4932 4 190538061 190538615 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27373 S 1 0 1 Single Asian sample YH "" YH nsv291067 4 190538610 190538701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309645 M 24 "" esv1607934 4 190538846 190538846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740672 S 2 1 0 "" HuRef esv2403459 4 190539235 190539808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521494 S 1 0 1 "" NA18507 esv3930 4 190539286 190539891 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26371 S 1 0 1 Single Asian sample YH "" YH nsv461883 4 190544296 190704117 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538211 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HSP90AA4P HGDP01033 esv1513620 4 190563140 190563140 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198549 S 2 1 0 "" HuRef nsv292388 4 190566579 190566630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310966 M 24 "" nsv293269 4 190566579 190566812 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311847 M 24 "" nsv881638 4 190567387 190704117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571075 S 6533 1 0 HSP90AA4P IS32533 nsv830177 4 190586228 190739373 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444148,nssv1444147,nssv1444146 M 95 1 2 HSP90AA4P nsv290372 4 190618813 190619380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308950 M 24 "" esv1393630 4 190619437 190619437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360862 S 2 1 0 "" HuRef esv28531 4 190623423 190625620 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10754 S 451 2 2 "" NA11894,NA12156,NA12489,NA18523 esv1010092 4 190623483 190625555 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586716 S 3 0 1 "" HuRef nsv10636 4 190627275 190635438 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14233,nssv13499 M 31 0 2 Samples from several populations that are part of the HapMap project. HSP90AA4P NA18504,NA19173 esv28796 4 190629891 190634894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12962 S 451 0 3 HSP90AA4P NA18505,NA18907,NA19225 nsv436431 4 190630067 190635133 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466182 S 2 0 1 Samples from several populations that are part of the HapMap project. HSP90AA4P NA18505 nsv291037 4 190630175 190634922 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309615 M 24 HSP90AA4P esv1528968 4 190642612 190642612 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662019 S 2 1 0 "" HuRef dgv1730e1 4 190646041 190932090 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4497,essv836,essv24483,essv20667,essv3231,essv21259,essv22296,essv641,essv8217,essv14497,essv1608,essv22469,essv273,essv21855,essv21796,essv10074,essv16966,essv2970,essv8423,essv2809,essv11970,essv1521,essv2581,essv20289,essv14887,essv12364,essv3458,essv7122,essv18095,essv384,essv6149,essv17745,essv3116,essv17582,essv15418,essv20768,essv19751,essv4560,essv2469,essv575,essv23227,essv16555,essv10547,essv5124,essv4205,essv2494,essv3714,essv24897,essv2077,essv1357,essv20185,essv3151,essv11188,essv16158,essv14636,essv13022,essv9892,essv15247,essv9607,essv12560,essv21411,essv19643,essv12233,essv1462,essv8767,essv6750,essv13161,essv19669,essv17945,essv13716,essv5933,essv6323,essv22125,essv9830,essv24744,essv15093,essv4173,essv11933,essv17645,essv22883,essv6667,essv14400,essv24830,essv18382,essv14138,essv16430,essv20398,essv7310,essv21160,essv8878,essv11008,essv15719,essv5548,essv7204,essv9049,essv22647,essv18628,essv16637,essv223,essv13628,essv24244,essv5027,essv17705,essv4904,essv8648,essv14266,essv74,essv18454,essv18841,essv12420,essv1022,essv6014,essv14743,essv8347,essv7773,essv6914,essv8955,essv2665,essv21227,essv4298,essv23358,essv23970,essv21966,essv4054,essv11822,essv23820,essv6254,essv10748,essv4980,essv19458,essv23477,essv20911,essv9336,essv14415,essv24531,essv13904,essv907,essv11490,essv19282,essv17610,essv10695,essv5218,essv5243,essv23180,essv22495,essv10932,essv17301,essv4360,essv11459,essv5449,essv23544,essv19978,essv482,essv10125,essv4635,essv24557,essv9154,essv22048,essv4685,essv4812,essv23913,essv24974,essv14105,essv19109,essv15313,essv21064,essv18160,essv6632,essv2211,essv21724,essv16883,essv15010,essv10884,essv1781,essv16803,essv19177,essv15636,essv9171,essv9694,essv21542,essv17044,essv16263,essv12765,essv23083,essv11285,essv17124,essv22748,essv2305,essv7268,essv7585,essv18701,essv18326,essv24702,essv22387,essv3823,essv22833,essv3412,essv21333,essv23124,essv1258,essv21456,essv5370,essv12793,essv13742,essv20610,essv7376,essv1182,essv18991,essv7047,essv6842,essv12635,essv1872,essv2881,essv15987,essv1922,essv10435,essv13047,essv23618,essv6960,essv3737,essv16318,essv15607,essv15872,essv1097,essv3529,essv23436,essv8296,essv2255,essv7732,essv17421,essv24421,essv11625,essv143,essv15540,essv3297,essv22179,essv4005,essv10229,essv5798,essv20142,essv10261,essv20092 M 271 0 0 "" NA06985,NA06991,NA06993,NA06994,NA07000,NA07019,NA07029,NA07034,NA07048,NA07055,NA07056,NA07345,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10854,NA10855,NA10856,NA10857,NA10860,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA11995,NA12003,NA12004,NA12005,NA12006,NA12043,NA12044,NA12056,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12707,NA12716,NA12717,NA12740,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12891,NA12892,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18524,NA18526,NA18529,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19172,NA19173,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19209,NA19210,NA19211,NA19223,NA19238,NA19239,NA19240 esv994914 4 190648276 190651834 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563464 S 3 1 0 "" HuRef esv2240343 4 190648574 190649032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4893888 S 1 0 1 "" NA18507 nsv10637 4 190648589 190650503 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14234 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv513197 4 190648638 190650319 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626696 S 1 0 1 "" 1 esv28450 4 190648765 190650140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16123 S 451 0 4 "" NA11995,NA18916,NA19099,NA19240 esv1747254 4 190649310 190649310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057572 S 2 1 0 "" HuRef esv1026665 4 190649678 190649678 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102220 S 2 1 0 "" HuRef esv1272583 4 190649933 190649933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152110 S 2 1 0 "" HuRef nsv291764 4 190654489 190654554 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310342 M 24 "" nsv292211 4 190654702 190654800 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310789 M 24 "" esv1165637 4 190659201 190659201 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308014 S 2 1 0 "" HuRef esv1450212 4 190666328 190666328 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935517 S 2 1 0 "" HuRef nsv830178 4 190673393 190811644 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444150,nssv1444149 M 95 0 2 "" nsv4663 4 190685781 190738433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3315,nssv4812,nssv441,nssv3145 M 9 4 0 "" NA12878,NA18555,NA19129,NA19240 dgv920n67 4 190694841 190924765 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822915,nsv822913,nsv822907,nsv822912,nsv822911,nsv822910,nsv822914,nsv822908,nsv822922,nsv822916,nsv822917,nsv822918,nsv822919 M 31 30 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820905 4 190694841 190924765 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420476 S 1 1 0 "" NA10851 nsv509033 4 190703879 190717976 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619393,nssv620803,nssv623424 M 4 3 0 "" NA10860,NA15510,NA18994 nsv291125 4 190704043 190704043 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309703 M 24 "" esv26709 4 190705809 190922947 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13931,esv13601,esv10378,esv11022,esv19597 M 451 36 2 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv10638 4 190706901 190921977 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12602,nssv12746,nssv13015,nssv13203,nssv14211,nssv13239,nssv12950,nssv13018,nssv14264,nssv12716,nssv13561,nssv13209,nssv12637,nssv13008,nssv12562,nssv14843,nssv13014,nssv13868 M 31 16 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA11830,NA12155,NA12740,NA18517,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19240 esv2542330 4 190707924 190709383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274593 S 1 0 1 "" NA18507 esv2074430 4 190708467 190709028 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646616 S 1 0 1 "" NA18507 esv8753 4 190708653 190708877 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31194 S 1 0 1 "" SJK esv996443 4 190714203 190716166 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564220 S 3 1 0 "" HuRef esv6266 4 190715707 190715790 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28707 S 1 1 0 "" SJK esv1292502 4 190715998 190715998 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170726 S 2 1 0 "" HuRef nsv289875 4 190717432 190718911 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308453 M 24 "" nsv880648 4 190718765 190871883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592609 S 6533 1 0 "" IS39243 nsv819747 4 190719106 190921532 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418792 S 2 1 0 "" AK1 esv2249958 4 190726514 190726918 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660195 S 1 0 1 "" NA18507 dgv1731e1 4 190727896 190932090 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12475,essv25125,essv9268,essv24046 M 271 0 0 "" NA10856,NA10859,NA19137,NA19207 esv2474387 4 190748050 190748509 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213351 S 1 1 0 "" NA18507 esv9516 4 190748278 190748356 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31957 S 1 1 0 "" SJK nsv293113 4 190749777 190749900 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311691 M 24 "" nsv293769 4 190749885 190749965 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312347 M 24 "" esv7120 4 190752933 190753001 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29561 S 1 1 0 "" SJK nsv292731 4 190757785 190757785 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311309 M 24 "" nsv293470 4 190757825 190757933 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312048 M 24 "" essv20758 4 190758319 190835869 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07357 esv2322290 4 190758325 190758681 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852718 S 1 0 1 "" NA18507 esv2190390 4 190758888 190759421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977683 S 1 0 1 "" NA18507 esv4064 4 190772451 190774019 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26505 S 1 0 0 Single Asian sample YH "" YH esv4198 4 190772475 190774995 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26639 S 1 0 0 Single Asian sample YH "" YH esv2567697 4 190772486 190775898 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321407 S 1 0 1 "" NA18507 esv9590 4 190772500 190775358 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32031 S 1 0 1 "" SJK esv3330 4 190774018 190775375 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25771 S 1 0 0 Single Asian sample YH "" YH esv7393 4 190774032 190775359 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29834 S 1 0 1 "" SJK nsv291004 4 190775380 190775447 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309582 M 24 "" esv9524 4 190775442 190775500 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31965 S 1 1 0 "" SJK dgv1732e1 4 190776282 190940425 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv203,essv15955,essv19734,essv15445,essv19044,essv19061,essv17377,essv13113,essv14030,essv2421 M 271 0 0 "" NA07034,NA10859,NA11830,NA18855,NA18859,NA18862,NA18951,NA18994,NA19142,NA19206 esv33187 4 190777473 190915672 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98496 S 51 0 1 "" 22352 esv2752042 4 190779808 191012638 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985793,essv6985794,essv6990143 M 771 0 1 "" SPC_50 nsv881115 4 190790985 190871883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533166 S 6533 1 0 "" MS11032 esv2348226 4 190791424 190791891 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751150 S 1 0 1 "" NA18507 esv1963336 4 190792078 190792549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641325 S 1 0 1 "" NA18507 essv7873 4 190803102 190839187 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19140 esv2600602 4 190803338 190805003 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217644 S 1 0 1 "" NA18507 esv1930290 4 190803373 190804490 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520790 S 1 0 1 "" NA18507 nsv290315 4 190803561 190804064 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308893 M 24 "" esv7834 4 190803658 190804580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30275 S 1 0 1 "" SJK esv1025082 4 190803737 190803737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210379 S 2 1 0 "" HuRef esv1446890 4 190803944 190803944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262007 S 2 1 0 "" HuRef esv1730769 4 190804513 190804513 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4123136 S 2 1 0 "" HuRef esv2530536 4 190804747 190804861 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326837 S 1 0 1 "" NA18507 esv2515244 4 190809406 190811015 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296168 S 1 0 1 "" NA18507 esv2238841 4 190809554 190809893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558494 S 1 0 1 "" NA18507 nsv513198 4 190809649 190811055 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626697 S 1 0 1 "" 1 esv9508 4 190809761 190810706 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31949 S 1 0 1 "" SJK esv996681 4 190809808 190811339 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564407 S 3 0 1 "" HuRef nsv830179 4 190817152 191003342 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444154,nssv1444153,nssv1444152 M 95 2 1 "" dgv100n16 4 190822076 190851218 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436675,nsv435983,nsv435959 M 2 0 0 "" NA15510,NA18505 dgv139e180 4 190822125 190850851 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989868,esv1009312 M 3 0 0 "" HuRef esv3028 4 190822812 190850113 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25469 S 1 0 0 Single Asian sample YH "" YH esv2646543 4 190822813 190850112 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377974 S 1 0 0 "" NA18507 esv5453 4 190822952 190849861 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27894 S 1 0 0 "" SJK nsv4664 4 190829051 190854341 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3316,nssv8050 M 9 2 0 "" NA12156,NA12878 essv18895 4 190829189 190940425 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12717 nsv289856 4 190835220 190835220 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308434 M 24 "" esv1682341 4 190835242 190835242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081960 S 2 1 0 "" HuRef esv1400748 4 190835271 190835271 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025269 S 2 1 0 "" HuRef nsv290947 4 190835388 190835388 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309525 M 24 "" esv2619280 4 190835396 190835499 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302127 S 1 0 1 "" NA18507 nsv436403 4 190842410 190847667 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466187 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv509034 4 190842539 190862336 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623425,nssv619394 M 4 2 0 "" NA10860,NA18994 nsv292435 4 190843271 190843541 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311013 M 24 "" nsv293618 4 190843320 190843369 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312196 M 24 "" esv5654 4 190843350 190843796 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28095 S 1 0 1 "" SJK esv1202483 4 190843515 190843515 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735641 S 2 1 0 "" HuRef nsv292102 4 190843576 190843576 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310680 M 24 "" esv2629062 4 190843679 190848288 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377608 S 1 0 1 "" NA18507 esv9360 4 190843975 190847151 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31801 S 1 0 1 "" SJK nsv291839 4 190843982 190847294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310417 M 24 "" nsv293302 4 190844189 190844241 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311880 M 24 "" esv1006633 4 190844439 190848053 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564860 S 3 1 0 "" HuRef esv1004151 4 190845137 190846793 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573038 S 3 0 1 "" HuRef esv6512 4 190852427 190852622 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28953 S 1 0 1 "" SJK esv2638907 4 190853485 190853601 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177764 S 1 0 1 "" NA18507 nsv290941 4 190858469 190858469 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309519 M 24 "" esv7544 4 190858562 190859218 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29985 S 1 0 1 "" SJK dgv5872n71 4 190858764 190985132 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881392,nsv880887,nsv880649 M 6533 3 0 "" IS39333,IS41803,MS15347 nsv880701 4 190858764 191030841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564129 S 6533 0 1 "" IS30171 dgv5873n71 4 190858764 191200760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881548,nsv880831,nsv880476 M 6533 0 4 FRG1,FRG2,LOC100288255 IS41193,MS21130,SP50900,SP80968 esv2284460 4 190859135 190859469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681247 S 1 0 1 "" NA18507 nsv513199 4 190860591 190862183 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626700 S 1 0 1 "" 1 esv2581495 4 190861135 190862516 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319840 S 1 0 1 "" NA18507 esv1963817 4 190861418 190862172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697452 S 1 0 1 "" NA18507 nsv289777 4 190861623 190861969 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308355 M 24 "" esv8269 4 190861633 190861978 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30710 S 1 0 1 "" SJK esv1011035 4 190861633 190861979 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585193 S 3 0 1 "" HuRef esv2436122 4 190880004 190881090 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297605 S 1 1 0 "" NA18507 esv5437 4 190880420 190880715 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27878 S 1 0 1 "" SJK esv1192369 4 190880625 190880625 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306961 S 2 1 0 "" HuRef esv2496211 4 190892987 190894924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339111 S 1 0 1 "" NA18507 nsv289863 4 190893322 190893391 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308441 M 24 "" nsv289555 4 190893322 190893426 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308133 M 24 "" nsv289391 4 190893322 190893873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv307969 M 24 "" esv1026735 4 190893445 190893824 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296045 S 2 0 1 "" HuRef nsv293594 4 190893756 190893824 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312172 M 24 "" esv1050295 4 190894061 190894131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756817 S 2 0 1 "" HuRef esv271827 4 190896660 190898181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500835,essv2511004,essv2511234,essv2495245,essv2499359,essv2505150,essv2500214,essv2501724,essv2505556,essv2512236,essv2495879,essv2503386,essv2508506,essv2507777,essv2503848,essv2493474,essv2493361,essv2508875,essv2502826,essv2494261,essv2493164,essv2504158,essv2509885,essv2496536,essv2496298,essv2493618,essv2497783,essv2499961,essv2507906,essv2494407,essv2508667,essv2496058,essv2499323,essv2507489,essv2505226,essv2498500,essv2494092,essv2513445,essv2495568,essv2511610,essv2505440,essv2500508,essv2497423,essv2496033,essv2495199,essv2504725,essv2506909,essv2506512,essv2510483,essv2511968,essv2501970,essv2498117,essv2503658,essv2495769,essv2495025,essv2504342,essv2499561,essv2513024 M 157 58 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07347,NA07357,NA10847,NA11830,NA11831,NA11931,NA11992,NA11994,NA11995,NA12006,NA12144,NA12154,NA12155,NA12489,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12878,NA12892,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18517,NA18555,NA18558,NA18564,NA18572,NA18592,NA18603,NA18605,NA18638,NA18853,NA18858,NA18871,NA18907,NA18916,NA18940,NA18952,NA18956,NA18959,NA18961,NA18964,NA19099,NA19102,NA19108,NA19172,NA19238,NA19239,NA19240 esv273650 4 190896660 190898256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580312 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv2135918 4 190898966 190899480 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842094 S 1 0 1 "" NA18507 nsv513200 4 190899758 190901536 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626701 S 1 0 1 "" 1 esv8129 4 190899918 190900716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30570 S 1 0 1 "" SJK nsv880818 4 190907533 191200760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501845 S 6533 1 0 FRG1,FRG2,LOC100288255 SP50829 esv2215904 4 190915028 190915473 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531127 S 1 0 1 "" NA18507 essv12 4 190915100 191002431 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18945 esv34388 4 190915100 191167888 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980050,essv6980051,essv6980052,essv6980053 M 771 1 0 FRG1 NA18945 nsv513201 4 190917000 190919694 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626702 S 1 0 1 "" 1 esv2472357 4 190917344 190920327 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167163 S 1 0 1 "" NA18507 esv9446 4 190917866 190919314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31887 S 1 0 1 "" SJK nsv881116 4 190918031 190969773 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512559 S 6533 1 0 "" SP55553 nsv293474 4 190918122 190920127 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv312052 M 24 "" nsv289645 4 190918918 190920141 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308223 M 24 "" esv1465673 4 190919330 190919772 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730408 S 2 0 1 "" HuRef esv1499581 4 190920065 190920065 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981480 S 2 1 0 "" HuRef esv1468684 4 190927539 190927539 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754993 S 2 1 0 "" HuRef nsv292146 4 190927569 190927569 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv310724 M 24 "" esv33617 4 190940050 190950614 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98719 S 51 1 0 "" 21606 dgv5874n71 4 190953178 191043686 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880347,nsv880446 M 6533 2 0 "" IS38274,MS23587 nsv4666 4 190957555 190980228 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8051 S 9 0 1 "" NA12156 esv998569 4 190961800 190961800 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582917 S 3 1 0 "" HuRef esv1745613 4 190961894 190961894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056196 S 2 1 0 "" HuRef esv997890 4 190968465 190969539 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586428 S 3 0 1 "" HuRef esv2336564 4 190968466 190968975 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654692 S 1 0 1 "" NA18507 esv1597881 4 190968965 190969031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982550 S 2 0 1 "" HuRef esv1103194 4 190969084 190969150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188936 S 2 0 1 "" HuRef esv2991 4 190978387 190978963 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25432 S 1 0 1 Single Asian sample YH "" YH nsv290470 4 190978412 190978696 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv309048 M 24 "" nsv289486 4 190978581 190978865 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv308064 M 24 "" nsv509037 4 190990776 191019796 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619395,nssv623426,nssv620804,nssv618033 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv996594 4 190993489 190995675 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586317 S 3 1 0 "" HuRef esv28914 4 190994000 190995880 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20119 S 451 1 1 "" NA12749,NA12776 esv1766482 4 190994483 190994625 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713367 S 2 0 1 "" HuRef esv1391478 4 190994759 190994830 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925908 S 2 0 1 "" HuRef esv1696040 4 190994912 190995182 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956638 S 2 0 1 "" HuRef esv1406006 4 190995209 190995282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637759 S 2 0 1 "" HuRef esv1243469 4 190995290 190995603 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772747 S 2 0 1 "" HuRef nsv4667 4 190996607 191019540 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4813,nssv442,nssv7141,nssv3317 M 9 4 0 "" NA12156,NA12878,NA19129,NA19240 nsv821091 4 191003897 191005693 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420477 S 1 1 0 "" NA10851 esv1005567 4 191003949 191004920 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564988 S 3 1 0 "" HuRef nsv10640 4 191003980 191005822 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14112,nssv14873,nssv12667,nssv14241,nssv14294,nssv12456,nssv15090,nssv11980,nssv13898 M 31 4 5 Samples from several populations that are part of the HapMap project. "" NA10863,NA11830,NA12155,NA12802,NA18502,NA18517,NA18860,NA18972,NA19221 esv28501 4 191004026 191005442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17985 S 451 0 18 "" NA07037,NA12004,NA12414,NA12489,NA12776,NA12828,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18909,NA18916,NA19108,NA19114,NA19147,NA19190 nsv292976 4 191004160 191004796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv311554 M 24 "" esv1757029 4 191004313 191004313 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297062 S 2 1 0 "" HuRef esv1057149 4 191005175 191005175 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926675 S 2 1 0 "" HuRef dgv5875n71 4 191006132 191200760 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880719,nsv881292 M 6533 2 0 FRG1,FRG2,LOC100288255 IS37996,IS41889 esv1357744 4 191006980 191006980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098663 S 2 1 0 "" HuRef esv23650 4 191027959 191139144 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16032 S 451 3 0 FRG1 NA12287,NA15510,NA18907 nsv830180 4 191030568 191118518 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444156,nssv1444157,nssv1444155 M 95 1 2 FRG1 nsv830182 4 191030568 191137774 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444158 S 95 0 1 FRG1 dgv5876n71 4 191030841 191173722 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880274,nsv881186 M 6533 3 0 FRG1 IS31082,MS15347,SP81481 esv271039 4 191034433 191034518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517154 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv10641 4 191037581 191254358 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12585,nssv14142,nssv12486,nssv13045 M 31 0 4 Samples from several populations that are part of the HapMap project. DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,DUX4L7,FRG1,FRG2,LOC100288255 NA10863,NA18502,NA18537,NA18980 dgv921n67 4 191037592 191134036 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822923,nsv822924 M 31 2 0 FRG1 NA18582,NA18999 nsv509038 4 191037961 191056931 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623427,nssv623428 M 4 1 0 "" NA18994 esv1753496 4 191039389 191039389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106954 S 2 1 0 "" HuRef nsv513202 4 191051671 191057831 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626703 S 1 0 1 "" 1 nsv513203 4 191070435 191090063 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626704 S 1 0 1 "" 1 nsv436437 4 191083970 191090021 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466188 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv271812 4 191092152 191092237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517025,essv2517867 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12878 esv273562 4 191092152 191092237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581491 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 dgv5877n71 4 191117403 191173722 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881121,nsv880828 M 6533 4 0 FRG1 SP51021,SP54685,SP57274,SP57347 nsv436453 4 191121553 191130774 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466189 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv509039 4 191123489 191154871 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618034,nssv619396 M 4 2 0 "" CHM,NA10860 nsv880553 4 191128697 191200760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501119 S 6533 1 0 FRG2,LOC100288255 SP50927 nsv442934 4 191140366 191146320 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2005047 4 191154793 191155424 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730340 S 1 0 1 "" NA18507 nsv471487 4 191162209 191259549 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547806,nssv547807,nssv547808 M 3 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,DUX4L7,FRG2,LOC100288255 esv28828 4 191179843 191180858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11740 S 451 0 1 "" NA11995 nsv513204 4 191181458 191190173 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626705 S 1 0 1 FRG2,LOC100288255 1 esv23426 4 191182042 191263030 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9791,esv17950,esv13038,esv10741,esv12389,esv12740 M 451 7 12 DUX2,DUX4,DUX4L2,DUX4L3,DUX4L4,DUX4L5,DUX4L6,DUX4L7,FRG2,LOC100288255 NA06985,NA07045,NA11931,NA11995,NA12006,NA12156,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18511,NA18517,NA18909,NA19099,NA19190,NA19225 nsv482089 4 191182517 191185406 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558450 S 1 1 0 FRG2,LOC100288255 KB1 esv988994 4 191207924 191208065 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579080 S 3 0 1 "" HuRef nsv820863 4 191248395 191263030 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420478 S 1 1 0 "" NA10851 nsv436460 5 70009 76404 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466190 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 essv22552 5 70263 392087 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AHRR,CCDC127,LRRC14B,PDCD6,PLEKHG4B,SDHA NA07348 dgv1733e1 5 70263 648955 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17816,esv402 M 271 0 0 AHRR,C5orf55,CCDC127,EXOC3,LRRC14B,MIR4456,PDCD6,PLEKHG4B,PP7080,SDHA,SLC9A3 NA10831 nsv461885 5 80564 171406 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538212 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00099 esv2752083 5 81949 399636 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985508,essv6981184,essv6981182,essv6981183 M 771 1 0 AHRR,CCDC127,LRRC14B,PDCD6,PLEKHG4B,SDHA BEC_361 nsv822925 5 103043 238707 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439657 S 31 1 0 PLEKHG4B NA18537 nsv10642 5 104036 105999 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12615,nssv14324,nssv13233 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA18517,NA18537 nsv10643 5 112264 172675 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12071,nssv14172,nssv13044,nssv13591,nssv13048,nssv14202 M 31 5 1 Samples from several populations that are part of the HapMap project. "" NA12872,NA18502,NA18975,NA19144,NA19240 nsv509040 5 112364 139950 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618035 S 4 1 0 "" CHM nsv441935 5 121675 169111 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv512843 5 125737 126895 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625481 S 1 1 0 "" 1 esv27718 5 125764 126959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11784 S 451 4 0 "" NA07037,NA11995,NA18502,NA19225 esv26253 5 126979 129390 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15278 S 451 0 1 "" NA18502 nsv520135 5 134437 171406 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697242 S 2026 1 0 "" nsv4671 5 134438 161922 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4814 S 9 1 0 "" NA19129 esv21891 5 136351 138686 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20483 S 451 7 8 "" NA06985,NA07045,NA12004,NA12287,NA12414,NA12776,NA12828,NA15510,NA18505,NA18517,NA18861,NA18916,NA19099,NA19147,NA19225 esv1559066 5 136740 136740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925293 S 2 1 0 "" HuRef esv1296100 5 136854 136854 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253666 S 2 1 0 "" HuRef esv1354608 5 136899 136899 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701606 S 2 1 0 "" HuRef esv1421475 5 137754 138324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641674 S 2 0 1 "" HuRef esv1138588 5 138376 138526 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315190 S 2 0 1 "" HuRef nsv881533 5 143199 194659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560373 S 6533 1 0 PLEKHG4B MS24450 dgv1734e1 5 146896 392087 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13129,essv8103,essv9221,essv18733,essv19259,essv19956,essv16256,essv17940,essv22374,essv2078 M 271 0 0 AHRR,CCDC127,LRRC14B,PDCD6,PLEKHG4B,SDHA NA10838,NA12003,NA12813,NA12874,NA12875,NA18949,NA19102,NA19128,NA19161,NA19206 nsv428458 5 146896 392087 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450262 S 62 0 1 AHRR,CCDC127,LRRC14B,PDCD6,PLEKHG4B,SDHA NA19113 nsv820763 5 153213 155468 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420479 S 1 0 1 "" NA10851 esv23763 5 153298 155370 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20973 S 451 11 1 "" NA07037,NA11995,NA18505,NA18508,NA18858,NA18907,NA18909,NA18916,NA19147,NA19190,NA19240,NA19257 esv1319216 5 153618 154994 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752777 S 2 0 1 "" HuRef nsv881278 5 154735 214292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557394 S 6533 0 1 PLEKHG4B MS22653 nsv328998 5 163602 163602 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347576 M 24 "" dgv5878n71 5 171406 275411 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881182,nsv881621,nsv880284 M 6533 0 7 CCDC127,LRRC14B,PLEKHG4B,SDHA IS33504,IS33684,IS33797,IS39233,IS40230,MS10769,MS18276 nsv880815 5 171406 628683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530508 S 6533 0 1 AHRR,C5orf55,CCDC127,EXOC3,LRRC14B,MIR4456,PDCD6,PLEKHG4B,PP7080,SDHA,SLC9A3 MS10311 nsv512844 5 193896 194487 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625482 S 1 1 0 PLEKHG4B 1 nsv470983 5 194659 245757 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545069,nssv545070 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRC14B,PLEKHG4B HGDP00661,HGDP00825 nsv515806 5 194659 245757 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676878,nssv661286,nssv664833,nssv690272,nssv683174,nssv682967,nssv667296,nssv682242 M 2026 0 8 LRRC14B,PLEKHG4B nsv518607 5 194659 359032 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696054 S 2026 1 0 AHRR,CCDC127,LRRC14B,PDCD6,PLEKHG4B,SDHA nsv523382 5 196197 317036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699131 S 2026 0 1 CCDC127,LRRC14B,PLEKHG4B,SDHA nsv881464 5 196534 243639 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584635 S 6533 1 0 PLEKHG4B IS37098 dgv5879n71 5 214292 257952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880665,nsv881667 M 6533 0 2 CCDC127,LRRC14B,PLEKHG4B IS37172,MS10698 esv21566 5 216784 219852 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11595 S 451 0 4 PLEKHG4B NA11931,NA12004,NA12239,NA18502 nsv821536 5 217291 219852 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420481 S 1 0 1 PLEKHG4B NA10851 esv2548346 5 217892 220432 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327402 S 1 0 1 PLEKHG4B NA18507 esv1220599 5 218089 218089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636776 S 2 1 0 PLEKHG4B HuRef esv1181815 5 219534 219618 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073070 S 2 0 1 PLEKHG4B HuRef esv1691643 5 219723 219723 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293707 S 2 1 0 PLEKHG4B HuRef esv272238 5 220564 220882 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580073,essv2580310,essv2579940,essv2580855,essv2579637 M 7 5 0 Samples from several populations that are part of the HapMap project. PLEKHG4B NA12878,NA12891,NA12892,NA19238,NA19240 esv268019 5 220584 220683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575794,essv2546494,essv2536568,essv2564459,essv2565437,essv2576464,essv2528597,essv2535968,essv2548904 M 157 9 0 Samples from several populations that are part of the HapMap project. PLEKHG4B NA06986,NA07037,NA11830,NA11881,NA11920,NA12751,NA12812,NA12814,NA12891 nsv461886 5 227106 245757 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538213 S 1557 0 1 LRRC14B,PLEKHG4B NINDS_71 nsv327306 5 228682 228739 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345884 M 24 PLEKHG4B dgv140e180 5 228820 229395 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990514,esv1007644 M 3 0 1 PLEKHG4B HuRef esv1561581 5 229107 229394 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626779 S 2 0 1 PLEKHG4B HuRef nsv329414 5 229151 229378 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347992 M 24 PLEKHG4B nsv509954 5 234749 240749 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621256,nssv618196 M 4 0 2 PLEKHG4B CHM,NA15510 nsv880380 5 234762 243639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510697 S 6533 0 1 PLEKHG4B SP54988 nsv881455 5 238498 276117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546559 S 6533 0 1 CCDC127,LRRC14B,PLEKHG4B,SDHA MS17208 esv1064788 5 247304 247304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140796 S 2 1 0 LRRC14B HuRef esv1003523 5 247383 247383 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576182 S 3 1 0 LRRC14B HuRef esv1532756 5 249760 249844 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263748 S 2 0 1 "" HuRef nsv329761 5 253954 254067 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348339 M 24 "" nsv10644 5 261032 290867 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14232,nssv14271,nssv12646,nssv13075,nssv13263,nssv13651,nssv13928,nssv12632,nssv13621,nssv12697,nssv13078,nssv14157,nssv15150,nssv12587 M 31 10 4 Samples from several populations that are part of the HapMap project. CCDC127,SDHA NA07029,NA07048,NA11830,NA12155,NA18502,NA18552,NA18563,NA18860,NA18980,NA19132,NA19144,NA19221,NA19240 esv2630858 5 261566 263194 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321141 S 1 0 1 CCDC127 NA18507 esv993161 5 263613 271295 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563660 S 3 0 1 CCDC127 HuRef esv29543 5 263641 266731 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16736 S 451 1 8 CCDC127 NA06985,NA11993,NA12156,NA18505,NA18916,NA19147,NA19225,NA19240,NA19257 esv1005832 5 264624 265070 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571077 S 3 0 1 CCDC127 HuRef esv1572597 5 265044 265311 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732089 S 2 0 1 CCDC127 HuRef esv1179194 5 265403 266034 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328503 S 2 0 1 CCDC127 HuRef nsv10645 5 308486 323435 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13269,nssv14354,nssv14263,nssv14187 M 31 0 4 Samples from several populations that are part of the HapMap project. SDHA NA12740,NA18504,NA18517,NA19132 nsv820802 5 310412 315772 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420482 S 1 0 1 "" NA10851 esv25917 5 310532 319852 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20271,esv15158 M 451 0 18 "" NA11993,NA12156,NA12239,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18858,NA18907,NA18916,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 esv987932 5 310975 311192 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584662 S 3 0 1 "" HuRef esv1476069 5 311632 311692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071236 S 2 0 1 "" HuRef nsv328175 5 311945 312036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346753 M 24 "" esv1254142 5 311995 312443 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883521 S 2 0 1 "" HuRef esv1599885 5 312456 312584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640180 S 2 0 1 "" HuRef esv1447513 5 313066 313769 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063398 S 2 0 1 "" HuRef esv1311095 5 313900 315085 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674531 S 2 0 1 "" HuRef esv2295089 5 337558 337999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960111 S 1 0 1 PDCD6 NA18507 nsv880786 5 341014 507732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573772 S 6533 0 1 AHRR,C5orf55,EXOC3,PDCD6 IS33504 esv28295 5 346465 347135 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19621 S 451 1 0 PDCD6 NA19257 nsv461887 5 352621 491564 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538214 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AHRR,PDCD6 HGDP00045 nsv881337 5 354443 409381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593371 S 6533 0 1 AHRR,PDCD6 IS39417 nsv881437 5 354443 455494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592148 S 6533 0 1 AHRR,PDCD6 IS39233 esv2106320 5 355330 355762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826886 S 1 0 1 PDCD6 NA18507 nsv880946 5 359877 380522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510698,nssv1509818 M 6533 0 2 AHRR,PDCD6 SP54956,SP54988 esv2369327 5 360212 360606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703361 S 1 0 1 AHRR,PDCD6 NA18507 nsv329327 5 360286 360393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347905 M 24 AHRR,PDCD6 esv995455 5 360348 360440 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578826 S 3 0 1 AHRR,PDCD6 HuRef esv1500777 5 360444 360537 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654317 S 2 0 1 AHRR,PDCD6 HuRef esv2502817 5 362530 363443 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239314 S 1 1 0 AHRR,PDCD6 NA18507 esv1175822 5 362749 362749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301526 S 2 1 0 AHRR,PDCD6 HuRef nsv509041 5 367510 491403 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619397,nssv623429,nssv620805 M 4 3 0 AHRR,PDCD6 NA10860,NA15510,NA18994 nsv512845 5 371907 372064 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625483 S 1 1 0 AHRR 1 esv1997829 5 397986 398393 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557177 S 1 0 1 AHRR NA18507 nsv830183 5 402352 555524 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444163,nssv1444160,nssv1444159,nssv1444164,nssv1444167,nssv1444166,nssv1444165,nssv1444161 M 95 1 7 AHRR,C5orf55,EXOC3,PP7080,SLC9A3 nsv4672 5 404322 405757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3318 S 9 1 0 AHRR NA12878 esv27505 5 409450 412520 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15064 S 451 28 0 AHRR NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12239,NA12287,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225 esv989115 5 429617 429617 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573776 S 3 1 0 AHRR HuRef nsv327296 5 429619 429619 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345874 M 24 AHRR esv1676154 5 429667 429667 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156744 S 2 1 0 AHRR HuRef nsv830184 5 431268 504867 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444168,nssv1444169 M 95 2 0 AHRR,C5orf55,EXOC3 esv2752071 5 431413 752190 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985627,essv6981650,essv6981649 M 771 1 0 AHRR,C5orf55,CEP72,EXOC3,MIR4456,PP7080,SLC9A3,TPPP BEC_311 nsv526648 5 435369 439014 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702974 S 2026 1 0 AHRR esv2094113 5 435654 436135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670291 S 1 0 1 AHRR NA18507 esv2581256 5 435850 435942 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196121 S 1 0 1 AHRR NA18507 dgv5880n71 5 439014 628683 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880279,nsv881046 M 6533 0 2 AHRR,C5orf55,EXOC3,MIR4456,PP7080,SLC9A3 IS37646,IS39417 esv21507 5 442603 446119 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15509,esv19394 M 451 1 8 AHRR NA15510,NA18511,NA18517,NA18858,NA18861,NA18916,NA19114,NA19147,NA19225 esv1484913 5 444732 444732 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832692 S 2 1 0 AHRR HuRef nsv10646 5 449788 452153 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14384 S 31 0 1 Samples from several populations that are part of the HapMap project. AHRR NA18517 esv2231288 5 450025 450350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798665 S 1 0 1 AHRR NA18507 nsv880597 5 456286 507732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531124 S 6533 1 0 AHRR,C5orf55,EXOC3 MS10330 nsv881301 5 456286 561642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537384 S 6533 1 0 AHRR,C5orf55,EXOC3,PP7080,SLC9A3 MS13177 dgv5881n71 5 456286 610797 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881122,nsv881614 M 6533 2 0 AHRR,C5orf55,EXOC3,MIR4456,PP7080,SLC9A3 MS11020,MS18255 nsv516539 5 460230 464047 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688667,nssv701351,nssv682498,nssv685213,nssv669566,nssv672639,nssv692434,nssv669940,nssv675739,nssv678480,nssv668998,nssv674755 M 2026 11 1 AHRR dgv5882n71 5 460545 561642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880914,nsv880537,nsv880997 M 6533 0 3 AHRR,C5orf55,EXOC3,PP7080,SLC9A3 IS38176,IS40396,MS13095 nsv880710 5 462760 852802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543434 S 6533 0 1 AHRR,C5orf55,CEP72,EXOC3,MIR4456,PP7080,SLC9A3,TPPP,ZDHHC11 MS16153 nsv880617 5 464047 521049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546404 S 6533 0 1 AHRR,C5orf55,EXOC3 MS17208 nsv4673 5 467285 502564 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3319 S 9 1 0 AHRR,C5orf55,EXOC3 NA12878 esv2095296 5 468355 468753 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930791 S 1 0 1 AHRR NA18507 esv22707 5 468464 468959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20891 S 451 0 1 AHRR NA18861 esv1629964 5 473940 473940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323172 S 2 1 0 AHRR HuRef nsv329656 5 473941 473941 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348234 M 24 AHRR nsv881627 5 476698 540163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511350 S 6533 0 1 AHRR,C5orf55,EXOC3,PP7080,SLC9A3 SP55021 nsv461889 5 482989 651224 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538215 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AHRR,C5orf55,EXOC3,MIR4456,PP7080,SLC9A3 HGDP00428 esv996608 5 489290 489290 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578188 S 3 1 0 AHRR HuRef nsv327676 5 489297 489297 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346254 M 24 AHRR esv1017920 5 489387 489387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625659 S 2 1 0 AHRR HuRef nsv327598 5 489388 489388 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346176 M 24 AHRR nsv881561 5 491564 559051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562308 S 6533 1 0 C5orf55,EXOC3,PP7080,SLC9A3 MS25498 nsv461890 5 491564 592310 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538216 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C5orf55,EXOC3,MIR4456,PP7080,SLC9A3 HGDP00338 dgv5883n71 5 491564 727921 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880363,nsv880270 M 6533 3 0 C5orf55,CEP72,EXOC3,MIR4456,PP7080,SLC9A3,TPPP MS12968,MS15118,MS25112 dgv5884n71 5 491564 904582 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881165,nsv880495 M 6533 2 0 C5orf55,CEP72,EXOC3,MIR4456,PP7080,SLC9A3,TPPP,ZDHHC11 MS19277,MS25396 nsv4674 5 508036 541214 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8052 S 9 1 0 EXOC3,PP7080,SLC9A3 NA12156 nsv527666 5 510261 543237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704141 S 2026 0 1 EXOC3,PP7080,SLC9A3 dgv5885n71 5 511841 548377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881542,nsv880716 M 6533 0 8 EXOC3,PP7080,SLC9A3 IS33248,IS33797,IS34235,IS34304,IS39473,IS40297,IS40828,IS41243 dgv5886n71 5 511841 561642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881298,nsv880266 M 6533 0 9 EXOC3,PP7080,SLC9A3 IS30369,IS32322,IS32841,IS40230,IS41410,MS10698,MS11237,MS13770,MS17522 dgv5887n71 5 511841 634053 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881008,nsv880375,nsv881380,nsv881209,nsv880625,nsv881618,nsv881338,nsv881413 M 6533 0 9 EXOC3,MIR4456,PP7080,SLC9A3 IS32737,IS33455,IS33504,IS34057,IS37172,IS39233,MS11054,MS16315,MS17208 nsv881305 5 511841 764373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549666,nssv1532386,nssv1575018 M 6533 0 3 CEP72,EXOC3,MIR4456,PP7080,SLC9A3,TPPP IS33684,MS10769,MS18276 nsv10647 5 519662 525046 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12131,nssv12806,nssv12645,nssv12010,nssv12617,nssv11929,nssv12516,nssv13135,nssv13038,nssv12980,nssv12727,nssv13293,nssv13144,nssv14903,nssv14301,nssv15180,nssv13681,nssv13074,nssv12592 M 31 19 0 Samples from several populations that are part of the HapMap project. EXOC3,PP7080 NA07048,NA10839,NA10863,NA11830,NA12802,NA12872,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19221,NA19240 nsv513205 5 519846 523555 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626706 S 1 0 1 EXOC3 1 esv2547373 5 519906 521783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354209 S 1 0 1 EXOC3 NA18507 esv1945211 5 520349 520874 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503695 S 1 0 1 EXOC3 NA18507 esv992058 5 520594 521559 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586400 S 3 0 1 "" HuRef esv26225 5 520594 521749 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16376,esv10385 M 451 8 0 "" NA11894,NA11995,NA12004,NA12156,NA12287,NA12776,NA18508,NA19240 nsv880308 5 521049 554544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510699 S 6533 0 1 PP7080,SLC9A3 SP54988 dgv5888n71 5 521049 610797 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881681,nsv881019,nsv881643 M 6533 0 3 MIR4456,PP7080,SLC9A3 IS31045,IS40502,MS10386 esv1449935 5 521263 521447 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306893 S 2 0 1 "" HuRef nsv822926 5 524344 596986 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432829 S 31 1 0 MIR4456,PP7080,SLC9A3 NA18972 esv22420 5 525279 526889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16479 S 451 0 1 PP7080,SLC9A3 NA07045 esv23175 5 527229 527984 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13420 S 451 1 1 SLC9A3 NA06985,NA11995 esv1236919 5 527416 527416 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628732 S 2 1 0 SLC9A3 HuRef esv1638372 5 527575 527946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735346 S 2 0 1 SLC9A3 HuRef esv1003268 5 527614 527712 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582905 S 3 0 1 SLC9A3 HuRef nsv521554 5 528104 548377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698169 S 2026 0 1 SLC9A3 nsv880336 5 528104 605815 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531125 S 6533 1 0 MIR4456,SLC9A3 MS10330 nsv519778 5 529969 543237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658512,nssv691336 M 2026 0 2 SLC9A3 nsv881493 5 533509 561642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573047 S 6533 0 1 SLC9A3 IS33239 nsv822927 5 533725 534597 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436591 S 31 1 0 SLC9A3 NA18542 nsv509042 5 536948 773488 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619398,nssv623431,nssv623430,nssv619399 M 4 2 0 CEP72,MIR4456,SLC9A3,TPPP NA10860,NA18994 esv4866 5 537166 537682 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27307 S 1 0 1 Single Asian sample YH SLC9A3 YH esv990425 5 537214 537449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578500 S 3 0 1 SLC9A3 HuRef esv1337538 5 537324 537560 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329771 S 2 0 1 SLC9A3 HuRef esv2577884 5 539096 541118 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190038 S 1 0 1 SLC9A3 NA18507 esv3198 5 539770 540729 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25639 S 1 0 1 Single Asian sample YH SLC9A3 YH nsv821281 5 539776 540746 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420483 S 1 0 1 SLC9A3 NA10851 esv28351 5 539796 540706 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14449 S 451 28 0 SLC9A3 NA07037,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv513206 5 539825 542521 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626707 S 1 0 1 SLC9A3 1 esv1092347 5 540079 540691 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659553 S 2 0 1 SLC9A3 HuRef nsv10648 5 541111 542777 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13165 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC9A3 NA18980 nsv880819 5 542199 554544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508249 S 6533 0 1 SLC9A3 SP54684 nsv328215 5 543312 543312 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346793 M 24 SLC9A3 esv28621 5 545290 545750 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20327 S 451 1 0 SLC9A3 NA12156 nsv329001 5 545298 545357 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347579 M 24 SLC9A3 nsv10649 5 548335 550219 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12546 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC9A3 NA10863 esv1354613 5 548496 548813 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952875 S 2 0 1 SLC9A3 HuRef esv28080 5 548550 549085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15093 S 451 0 1 SLC9A3 NA19190 nsv881103 5 549577 1077055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538513 S 6533 1 0 BRD9,CEP72,LOC100506688,MIR4456,NKD2,SLC9A3,TPPP,TRIP13,ZDHHC11 MS13757 esv4637 5 550793 551095 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27078 S 1 0 1 Single Asian sample YH SLC9A3 YH esv2477798 5 555738 556745 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188200 S 1 1 0 SLC9A3 NA18507 esv1005209 5 556007 556007 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583575 S 3 1 0 SLC9A3 HuRef esv1690608 5 556095 556095 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211271 S 2 1 0 SLC9A3 HuRef esv1709487 5 560800 560800 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240845 S 2 1 0 SLC9A3 HuRef esv1770003 5 560843 560843 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700192 S 2 1 0 SLC9A3 HuRef nsv881051 5 561643 664753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581266,nssv1574321,nssv1590807 M 6533 3 0 MIR4456,SLC9A3 IS33543,IS35549,IS38591 nsv881513 5 573545 634053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509819 S 6533 0 1 MIR4456,SLC9A3 SP54956 nsv10651 5 576202 577994 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14444 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC9A3 NA18517 dgv5889n71 5 592310 664753 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880849,nsv881138 M 6533 11 0 "" IS30669,IS31294,IS32006,IS35403,IS36196,IS36656,IS37059,IS37712,IS38380,IS39453,MS23486 nsv830185 5 592337 709215 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444175,nssv1444174,nssv1444172,nssv1444171,nssv1444170,nssv1444177,nssv1444176,nssv1444179,nssv1444178 M 95 9 0 CEP72 esv1002414 5 596332 596332 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566978 S 3 1 0 "" HuRef esv1572368 5 596401 596401 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302597 S 2 1 0 "" HuRef esv24025 5 605043 608244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20230,esv16436 M 451 0 6 "" NA12156,NA18511,NA18916,NA19108,NA19129,NA19240 nsv820754 5 605043 608244 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420484 S 1 0 1 "" NA10851 esv1007683 5 605127 607677 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586112 S 3 0 1 "" HuRef esv1131612 5 605814 606683 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797580 S 2 0 1 "" HuRef dgv5890n71 5 605815 664753 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880924,nsv881426,nsv880487,nsv881039,nsv880650,nsv881406 M 6533 13 0 "" IS30228,IS33867,IS34508,IS34612,IS35581,IS37860,IS38108,IS38152,IS38235,IS38464,IS39625,IS41483,IS41870 nsv327889 5 607558 607610 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346467 M 24 "" esv999775 5 607761 618989 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586411 S 3 1 0 "" HuRef esv1725964 5 607896 607896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266792 S 2 1 0 "" HuRef nsv329572 5 610663 610819 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348150 M 24 "" dgv5891n71 5 611055 654485 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880927,nsv880568 M 6533 2 0 "" IS33757,IS36011 nsv520138 5 613923 659384 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697243 S 2026 1 0 "" dgv685n27 5 613923 671586 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461892,nsv461891 M 1557 2 0 CEP72 HGDP00011,HGDP00187 nsv513207 5 614746 618433 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626708 S 1 0 1 "" 1 esv28280 5 614914 618989 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16202 S 451 1 24 "" NA06985,NA07037,NA11995,NA12004,NA12156,NA12239,NA12489,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 dgv5892n71 5 616330 678670 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881032,nsv880603 M 6533 2 0 CEP72 IS30035,MS18255 dgv5893n71 5 616330 738748 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880854,nsv881521 M 6533 2 0 CEP72,TPPP MS24001,MS25498 esv1285141 5 618060 618233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701124 S 2 0 1 "" HuRef esv4453 5 623735 624146 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26894 S 1 0 1 Single Asian sample YH "" YH nsv510933 5 632123 892273 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624295,nssv621576 M 4 0 0 CEP72,TPPP,ZDHHC11 NA15510,NA18994 nsv329887 5 645966 646030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348465 M 24 "" nsv328518 5 646018 646082 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347096 M 24 "" nsv461893 5 647083 678670 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538219 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CEP72 HGDP01019 nsv461894 5 647083 738748 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538220 S 1557 1 0 CEP72,TPPP NINDS_256 nsv525620 5 647083 869095 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701766 S 2026 1 0 CEP72,TPPP,ZDHHC11 esv2286088 5 661694 662137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738523 S 1 0 1 "" NA18507 dgv5n29 5 662946 873509 CNV Gain Locke et al 2006 16826518 BAC_aCGH nsv469551,nsv469572,nsv469866 M 265 248 0 CEP72,TPPP,ZDHHC11 nsv471627 5 662947 879520 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551075,nssv551036,nssv551068,nssv549436,nssv549129,nssv551079,nssv551066,nssv551029,nssv549441,nssv551017,nssv551037,nssv549128,nssv551014,nssv551020,nssv551086,nssv551028,nssv549135,nssv549452,nssv551080,nssv551024,nssv549127,nssv549443,nssv549126,nssv549435,nssv551027,nssv551031,nssv549450,nssv551067,nssv551083,nssv551088,nssv551023,nssv549453,nssv549434,nssv551016,nssv549447,nssv551072,nssv551022,nssv551082,nssv551032,nssv549131,nssv549451,nssv551019,nssv551071,nssv551074,nssv551087,nssv549456,nssv551081,nssv549142,nssv549130,nssv551033,nssv551085,nssv551077,nssv549134,nssv549437,nssv549455,nssv551073,nssv549141,nssv551030,nssv549448,nssv551015,nssv549442,nssv551069,nssv551078,nssv551089,nssv549439,nssv551021,nssv549132,nssv549438,nssv551034,nssv551018,nssv549454,nssv551025,nssv551026,nssv551076,nssv549140,nssv551084,nssv549138,nssv551035,nssv549125,nssv549449,nssv549139,nssv549136,nssv549446,nssv549445,nssv549444,nssv551070,nssv549440,nssv549137,nssv549133 M 48 23 6 CEP72,TPPP,ZDHHC11 JK1051,JK1058,JK1061,JK1688,JK776,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10976,NA10979,NA11323,NA11521,NA15724,NA15727,NA15728,NA15729,NA15733,NA17014,NA17020,NA17052,NA17058,P86GA dgv1735e1 5 673163 937439 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14406,essv3286,essv848,essv1333,essv10702,essv3152,essv15851,essv1880,essv6847,essv678,essv271,essv3054,essv17066,essv10186,essv20245,essv4472,essv3889,essv12888,essv18438,essv11602,essv1735,essv8447,essv21641,essv8874,essv14852,essv6812,essv24079,essv22123,essv15278,essv19613,essv17759,essv4565,essv6586,essv1286,essv9487,essv7778,essv16111,essv7612,essv2514,essv13192,essv8287,essv9041,essv24887,essv8110,essv11351,essv982,essv8937,essv14501,essv22546,essv14633,essv1429,essv12571,essv9203,essv15582,essv15958,essv18391,essv336,essv21438,essv9529,essv16977,essv5577,essv10102,essv4762,essv22987,essv8710,essv11281,essv22474,essv5437,essv14459,essv9506,essv6179,essv18835,essv8597,essv5736,essv20090,essv2774,essv15031,essv14091,essv20966,essv16707,essv13058,essv24530,essv9323,essv13935,essv9428,essv10554,essv13818,essv8494,essv4386,essv4634,essv10641,essv13300,essv17395,essv11463,essv11670,essv17344,essv16287,essv17223,essv11440,essv2768,essv13026,essv11542,essv14153,essv25016,essv7809,essv23928,essv21123,essv15311,essv15638,essv9756,essv12325,essv14992,essv14814,essv11801,essv8694,essv14355,essv6028,essv23519,essv18249,essv743,essv18703,essv7382,essv4283,essv5153,essv14848,essv20559,essv20651,essv1402,essv1200,essv9916,essv8757,essv14712,essv2860,essv16012,essv12457,essv19016,essv23657,essv455,essv11921,essv1100,essv8546,essv11744,essv15181,essv2648,essv17450,essv150,essv1029,essv10286,essv11164 M 271 0 0 BRD9,CEP72,TPPP,ZDHHC11 NA06993,NA07000,NA07048,NA07056,NA07348,NA07357,NA10831,NA10839,NA10846,NA10857,NA10859,NA10863,NA11831,NA12005,NA12043,NA12144,NA12155,NA12249,NA12717,NA12751,NA12761,NA12801,NA12802,NA12814,NA12815,NA12874,NA12892,NA18501,NA18502,NA18503,NA18504,NA18506,NA18507,NA18508,NA18516,NA18521,NA18522,NA18524,NA18529,NA18532,NA18542,NA18545,NA18552,NA18558,NA18564,NA18571,NA18573,NA18579,NA18593,NA18594,NA18603,NA18620,NA18621,NA18623,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18861,NA18862,NA18863,NA18870,NA18912,NA18944,NA18951,NA18952,NA18953,NA18964,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18976,NA18978,NA18981,NA18987,NA18994,NA18995,NA18997,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19098,NA19100,NA19102,NA19103,NA19119,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19140,NA19142,NA19144,NA19145,NA19154,NA19159,NA19161,NA19172,NA19173,NA19194,NA19200,NA19201,NA19202,NA19204,NA19206,NA19207,NA19208,NA19211,NA19223,NA19239,NA19240 dgv1736e1 5 673163 1214476 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13720,essv6700,essv17509,essv10035,essv16463,essv7189,essv24376,essv21868,essv12181,esv872,essv9127,essv17162 M 271 0 0 BRD9,CEP72,LOC100506688,MIR4635,NKD2,SLC12A7,TPPP,TRIP13,ZDHHC11 NA11839,NA12707,NA12762,NA18547,NA18608,NA18860,NA19099,NA19101,NA19119,NA19139,NA19171 nsv428459 5 673163 1248692 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450311,nssv450307,nssv450290,nssv450303,nssv450297,nssv450310,nssv450295,nssv450273,nssv450308,nssv450306,nssv450294,nssv450302,nssv450272,nssv450299,nssv450305,nssv450289,nssv450292,nssv450291,nssv450304,nssv450296,nssv450293 M 62 19 2 BRD9,CEP72,LOC100506688,MIR4635,NKD2,SLC12A7,TPPP,TRIP13,ZDHHC11 HGDP00449,HGDP00450,HGDP00460,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00478,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19147,NA19189,NA19225,NA19257 esv24755 5 681580 686865 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19022,esv19019 M 451 26 14 CEP72 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv822928 5 681580 686960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421687,nssv1441045,nssv1438801,nssv1425737,nssv1435841,nssv1426224,nssv1424186,nssv1436592,nssv1425807,nssv1440331,nssv1424958,nssv1429781,nssv1430926,nssv1427469,nssv1437425,nssv1426636,nssv1432035,nssv1423382,nssv1430561,nssv1433633,nssv1431294,nssv1435065,nssv1428255,nssv1422584,nssv1429022,nssv1438130,nssv1439658,nssv1432831,nssv1434402,nssv1439774 M 31 0 30 CEP72 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv1229549 5 681713 681713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785606 S 2 1 0 CEP72 HuRef esv1293034 5 681750 681750 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154374 S 2 1 0 CEP72 HuRef esv1064367 5 681763 681763 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021255 S 2 1 0 CEP72 HuRef nsv327941 5 681798 681999 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346519 M 24 CEP72 nsv329867 5 681868 681868 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348445 M 24 CEP72 nsv821539 5 681950 686960 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420485 S 1 0 1 CEP72 NA10851 esv1250929 5 682044 682044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324829 S 2 1 0 CEP72 HuRef nsv328511 5 682086 682153 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347089 M 24 CEP72 nsv10652 5 682483 687162 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12161,nssv14331,nssv13138 M 31 0 3 Samples from several populations that are part of the HapMap project. CEP72 NA12872,NA18860,NA19144 nsv881247 5 685190 764373 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559947 S 6533 1 0 CEP72,TPPP MS24225 esv1512084 5 686261 686261 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971234 S 2 1 0 CEP72 HuRef esv1280202 5 689003 689003 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315065 S 2 1 0 CEP72 HuRef esv1630106 5 695255 695369 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920498 S 2 0 1 CEP72 HuRef essv13335 5 697552 796547 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CEP72,TPPP NA18500 dgv1737e1 5 697552 876715 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24547,essv12942,essv20496,essv3927,essv25138,essv2395,essv22284,essv24193,essv12124,essv16625,essv12043,essv7684,essv3615,essv15442 M 271 0 0 CEP72,TPPP,ZDHHC11 NA07056,NA11831,NA11839,NA12762,NA12874,NA18620,NA18966,NA18970,NA18976,NA19102,NA19116,NA19173,NA19206,NA19208 esv1003099 5 699656 711356 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563700 S 3 0 1 CEP72 HuRef esv25844 5 700618 704908 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11456 S 451 0 7 CEP72 NA07045,NA11993,NA18502,NA18523,NA18858,NA19129,NA19190 nsv10653 5 700923 704673 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14933 S 31 0 1 Samples from several populations that are part of the HapMap project. CEP72 NA18972 esv988499 5 701158 704768 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586746 S 3 0 1 CEP72 HuRef esv1926133 5 701180 701622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4718284 S 1 0 1 CEP72 NA18507 nsv327962 5 701482 701743 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346540 M 24 CEP72 esv1785686 5 702769 702980 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889255 S 2 0 1 CEP72 HuRef nsv328227 5 702934 702992 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346805 M 24 CEP72 esv1645370 5 703175 703175 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072934 S 2 1 0 CEP72 HuRef nsv513208 5 703267 704586 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626709 S 1 0 1 CEP72 1 nsv329670 5 703296 703363 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348248 M 24 CEP72 esv1560788 5 703503 704199 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836102 S 2 0 1 CEP72 HuRef esv1436922 5 704201 704268 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3822015 S 2 0 1 CEP72 HuRef esv1218667 5 704318 704423 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354212 S 2 0 1 CEP72 HuRef nsv822929 5 705536 714895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435066 S 31 0 1 CEP72,TPPP NA18942 dgv5894n71 5 706343 904582 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv880782,nsv880643 M 6533 20 2 CEP72,TPPP,ZDHHC11 IS30197,IS31800,IS34340,IS38409,IS40318,MS10491,MS10769,MS12432,MS13317,MS13770,MS14653,MS15972,MS16314,MS17527,MS20204,MS20698,MS23152,MS23191,MS25695,SP53324,SP57670,SP81495 nsv4675 5 711894 897746 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11097,nssv2503,nssv10436,nssv447 M 9 0 4 TPPP,ZDHHC11 NA15510,NA18555,NA18956,NA19240 dgv195e55 5 712605 876820 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752075,esv34475,esv34644,esv34972,esv2752077,esv2752079 M 771 6 0 TPPP,ZDHHC11 BEC_310,BEC_329,BEC_408,NA10857,NA18522,NA18995 dgv922n67 5 715183 842090 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822930,nsv822940,nsv822934,nsv822933 M 31 4 0 TPPP AK12,NA18547,NA18947,NA18972 nsv880586 5 715955 738504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517153 S 6533 1 0 TPPP SP57197 nsv329077 5 715977 716069 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347655 M 24 TPPP nsv329408 5 716249 716341 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347986 M 24 TPPP nsv819793 5 717109 717409 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419847 S 2 1 0 TPPP AK1 nsv881104 5 718280 822832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509820 S 6533 0 1 TPPP SP54956 esv24225 5 719715 903941 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19753,esv14773,esv17882,esv18839,esv13566,esv14349,esv19144,esv10203 M 451 33 14 TPPP,ZDHHC11 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2439668 5 720486 722039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306494 S 1 0 1 TPPP NA18507 esv2259846 5 720793 721303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579113 S 1 0 1 TPPP NA18507 nsv328023 5 720890 721177 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346601 M 24 TPPP esv988665 5 720950 721555 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586394 S 3 0 1 TPPP HuRef esv1611660 5 720962 721106 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675837 S 2 0 1 TPPP HuRef esv993461 5 721033 721369 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584407 S 3 0 1 TPPP HuRef esv1432368 5 721140 721189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005673 S 2 0 1 TPPP HuRef esv1335572 5 721226 721370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224572 S 2 0 1 TPPP HuRef nsv519836 5 723745 738748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698300,nssv658982,nssv692386 M 2026 0 3 TPPP nsv818307 5 723745 738748 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417277 S 112 0 1 TPPP NA18608 dgv5895n71 5 726408 918411 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880549,nsv880543,nsv880642,nsv881011 M 6533 4 0 BRD9,TPPP,ZDHHC11 IS30311,IS32703,MS13777,SP55683 esv33266 5 728076 913495 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97537,essv93926,essv100899,essv100910,essv101084,essv95178,essv101302,essv97075,essv97816,essv97795,essv95556,essv97333,essv101651,essv101706,essv95837,essv94579,essv92911,essv96125,essv96145,essv96710,essv97173,essv97283,essv98646,essv93587,essv99685,essv99614,essv92598,essv98005,essv96535,essv96538,essv100223,essv98410,essv96288,essv94273 M 51 8 20 TPPP,ZDHHC11 21616,21634,21656,21693,21721,21805,21817,21837,21847,21879,21909,21911,21932,21939,22007,22011,22075,22085,22128,22217,22233,22259,22261,22286,22352,22371,22394 nsv10654 5 729285 1135688 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13443,nssv14277,nssv14361,nssv13158,nssv12675,nssv15240,nssv13619,nssv12836,nssv14292,nssv13383,nssv13649,nssv13168,nssv13529,nssv12736,nssv14383,nssv13988,nssv15210,nssv13711,nssv13323,nssv13068,nssv12707,nssv14993,nssv13195,nssv13134,nssv13958,nssv13194,nssv13589,nssv13329,nssv13353,nssv14534,nssv13389,nssv12705,nssv13359,nssv15053,nssv12662,nssv13831,nssv13741,nssv14474,nssv12787,nssv12676,nssv13225,nssv12647,nssv11959,nssv13040,nssv14307,nssv15023,nssv12070,nssv12706,nssv14217,nssv12185,nssv11989,nssv14247,nssv13128,nssv14337,nssv12576,nssv12825,nssv12191,nssv12677,nssv12735,nssv14451,nssv12796,nssv13164,nssv13198,nssv13204,nssv13299,nssv14352,nssv14963,nssv14322,nssv12215,nssv14293,nssv14504,nssv13234,nssv13010,nssv13559,nssv14391,nssv12795,nssv14323,nssv15270,nssv14262,nssv13174,nssv12622,nssv15083,nssv14481,nssv13228,nssv14353,nssv13801,nssv15143,nssv12040 M 31 29 10 Samples from several populations that are part of the HapMap project. BRD9,LOC100506688,MIR4635,NKD2,SLC12A7,TPPP,TRIP13,ZDHHC11 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv1738e1 5 734302 854362 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23269,essv24206,essv17684,essv9962,essv24629,essv9864,essv19748,essv20513,essv11382,essv4999,essv21609,essv16181,essv18531,essv19891,essv7637,essv9555,essv22023,essv6795,essv19327,essv23647,essv21879,essv21943,essv25083,essv25188,essv2156,essv12141 M 271 0 0 TPPP,ZDHHC11 NA06991,NA07000,NA07055,NA07345,NA10835,NA10846,NA10859,NA11840,NA11881,NA12144,NA12155,NA12716,NA12763,NA12815,NA12872,NA12892,NA18505,NA18506,NA18547,NA18571,NA18594,NA18861,NA18978,NA19127,NA19144,NA19204 dgv1739e1 5 734302 876715 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13321,essv7510,essv3571,essv6558,essv4102,essv13997,essv8578,essv100,essv13382,essv2562,essv18059,essv20715,essv11404,essv24103,essv23154,essv25086,essv8905,essv24343,essv21097 M 271 0 0 TPPP,ZDHHC11 NA06993,NA07048,NA10831,NA10839,NA10854,NA12752,NA12814,NA18507,NA18529,NA18532,NA18624,NA18974,NA18987,NA19005,NA19098,NA19130,NA19159,NA19171,NA19192 dgv1740e1 5 734302 937439 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16598,essv954,essv16570,essv209,essv2373,essv10968,essv2925,essv1550,essv14925,essv8397,essv14256,essv17876,essv8042,essv7899,essv14954,essv10598,essv8255,essv20471,essv7871,essv12078,essv5638,essv13264,essv9575,essv12922,essv9273,essv5617,essv20696,essv19151,essv13120,essv8666,essv6415,essv14038,essv3256,essv11301,essv2712,essv8073,essv23107,essv24175,essv4518,essv7973,essv2945 M 271 0 0 BRD9,TPPP,ZDHHC11 NA10857,NA12043,NA12249,NA12751,NA12802,NA12812,NA18501,NA18545,NA18579,NA18593,NA18623,NA18859,NA18860,NA18862,NA18863,NA18944,NA18967,NA18972,NA18981,NA18994,NA18995,NA19007,NA19012,NA19092,NA19093,NA19094,NA19099,NA19100,NA19101,NA19103,NA19129,NA19132,NA19137,NA19140,NA19153,NA19161,NA19193,NA19201,NA19211,NA19239,NA19240 nsv329251 5 735453 735453 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347829 M 24 TPPP nsv4677 5 737090 771047 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv446 S 9 1 0 TPPP NA19240 dgv99e19 5 737641 849178 CNV Loss Ahn et al 2009 19470904 Sequencing esv5989,esv6103 M 1 0 1 TPPP,ZDHHC11 SJK dgv196e55 5 738504 843757 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752076,esv34895,esv35126 M 771 3 0 TPPP BEC_786,NA11840,NA19161 dgv197e55 5 738504 916797 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34224,esv34385,esv34719,esv35138,esv2752080 M 771 5 0 TPPP,ZDHHC11 BEC_411,NA12043,NA12751,NA19137,NA19159 dgv198e55 5 738504 972497 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34263,esv34997 M 771 2 0 BRD9,TPPP,TRIP13,ZDHHC11 NA18859,NA19202 dgv5896n71 5 738748 822832 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv880467,nsv881009 M 6533 3 3 TPPP SP50103,SP50691,SP51238,SP52951,SP54753,SP56419 dgv5897n71 5 738748 847224 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880901,nsv881054,nsv880602 M 6533 5 0 TPPP SP50046,SP50182,SP54666,SP56231,SP57443 nsv881456 5 738748 869095 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501417,nssv1518745,nssv1503935,nssv1501157,nssv1515732,nssv1516071,nssv1517593 M 6533 6 1 TPPP,ZDHHC11 SP51049,SP51054,SP52131,SP56260,SP56396,SP57324,SP57973 dgv5898n71 5 738748 905207 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881434,nsv880932,nsv880944,nsv880587,nsv881302,nsv881395,nsv881591,nsv880783,nsv881144,nsv881335,nsv881225,nsv880731,nsv880787,nsv881304 M 6533 48 0 TPPP,ZDHHC11 IS33519,SP50017,SP50073,SP50179,SP50585,SP51051,SP51057,SP51082,SP51147,SP51486,SP51493,SP52093,SP52113,SP52308,SP52338,SP52588,SP52868,SP53060,SP53330,SP54355,SP54408,SP54424,SP54442,SP54478,SP54490,SP54551,SP54614,SP54622,SP54693,SP55469,SP55547,SP55571,SP55649,SP55694,SP55847,SP55856,SP56047,SP56143,SP56710,SP56832,SP56926,SP56937,SP57274,SP57347,SP57367,SP57410,SP57485,SP80913 nsv822931 5 739174 810625 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427473 S 31 1 0 TPPP AK8 dgv923n67 5 739174 894129 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822938,nsv822935,nsv822936,nsv822937 M 31 6 0 TPPP,ZDHHC11 AK14,AK16,AK8,NA18542,NA18582,NA18973 nsv822939 5 739280 746113 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426637 S 31 1 0 TPPP AK6 dgv18n31 5 741001 868717 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471332,nsv471340 M 3 TPPP,ZDHHC11 nsv436080 5 741790 830469 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466191 S 2 1 0 TPPP NA15510 esv1005452 5 744610 801731 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586171 S 3 0 1 TPPP HuRef esv29941 5 745859 826103 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84180 S 3 0 1 TPPP WATSON nsv436483 5 747414 825485 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466192 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv1741e1 5 752190 820288 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14658,essv18004 M 271 0 0 "" NA12005,NA19145 dgv5899n71 5 752190 847224 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881400,nsv880902 M 6533 0 2 "" SP50802,SP51450 esv2752078 5 752190 876820 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985384,essv6989493 M 771 0 1 ZDHHC11 SPC_157 nsv436478 5 755950 762254 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466193 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv821639 5 762632 860238 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421383,nssv1421384,nssv1421386 M 31 3 0 ZDHHC11 dgv924n67 5 763294 878490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822941,nsv822944 M 31 2 0 ZDHHC11 NA18537,NA18997 nsv327679 5 764027 764998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346257 M 24 "" dgv5900n71 5 764373 869095 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881202,nsv881487,nsv880805 M 6533 11 6 ZDHHC11 SP50116,SP50690,SP50783,SP50882,SP50936,SP50979,SP52274,SP52531,SP53572,SP53687,SP54625,SP54648,SP55548,SP56108,SP56132,SP57418,SP80948 nsv880898 5 764373 1022285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530509 S 6533 0 1 BRD9,TRIP13,ZDHHC11 MS10311 esv1300248 5 765012 765012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946916 S 2 1 0 "" HuRef nsv822942 5 770355 868134 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422585 S 31 0 1 ZDHHC11 NA18552 dgv1742e1 5 770599 854362 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21613,essv20733,essv5978,essv6063 M 271 0 0 ZDHHC11 NA07348,NA07357,NA18552,NA18603 dgv1743e1 5 770599 876715 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1079,essv21579,essv9295,essv16380,essv504,essv19824,essv4329 M 271 0 0 ZDHHC11 NA10847,NA12146,NA18564,NA18852,NA18952,NA18990,NA19172 dgv1744e1 5 770599 923619 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1717,essv1575,essv718,essv3826,essv11066,essv8972,essv20992,essv20876,essv12430,essv9002,essv6525,essv23704,essv3689,essv18910,essv2411,essv1062 M 271 0 0 BRD9,ZDHHC11 NA10863,NA12145,NA12717,NA12740,NA18572,NA18940,NA18943,NA18951,NA18953,NA18968,NA18975,NA18997,NA19138,NA19139,NA19152,NA19194 esv2752081 5 771021 843757 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988662,essv6986415 M 771 1 0 "" BEC_644 nsv436756 5 772189 781896 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466194 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1593746 5 778481 778481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760627 S 2 1 0 "" HuRef nsv469861 5 780112 879520 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649882 M 265 114 0 Samples from several populations that are part of the HapMap project. ZDHHC11 dgv5901n71 5 783022 852802 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881012,nsv880544,nsv880807,nsv880834 M 6533 0 4 ZDHHC11 SP52110,SP54681,SP55401,SP81074 nsv881502 5 783022 869095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506684 S 6533 0 1 ZDHHC11 SP54393 dgv5902n71 5 783022 904046 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881043,nsv880479,nsv880482,nsv880938,nsv881107,nsv881508,nsv881031,nsv880751 M 6533 21 0 ZDHHC11 SP50085,SP50598,SP50796,SP50850,SP54399,SP55219,SP55565,SP55652,SP55692,SP55797,SP55851,SP56144,SP56289,SP56927,SP57250,SP57270,SP57577,SP57672,SP57860,SP57941,SP58155 dgv199e55 5 784584 916797 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34255,esv34931 M 771 2 0 ZDHHC11 NA18968,NA19003 nsv436886 5 786073 864831 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466196 S 2 1 0 Samples from several populations that are part of the HapMap project. ZDHHC11 NA18505 dgv100e19 5 786902 900023 CNV Loss Ahn et al 2009 19470904 Sequencing esv8748,esv7461,esv9718 M 1 0 1 ZDHHC11 SJK nsv880916 5 786926 847224 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510700,nssv1500610,nssv1512947 M 6533 1 2 "" SP50148,SP54988,SP55655 dgv1745e1 5 796547 854362 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7641,essv7443 M 271 0 0 ZDHHC11 NA18582,NA18632 esv34916 5 796547 875123 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979660,essv6986925 M 771 1 0 ZDHHC11 NA18593 dgv5903n71 5 799864 869095 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880925,nsv881040,nsv880604 M 6533 0 7 ZDHHC11 SP50663,SP51161,SP53342,SP54892,SP55558,SP55586,SP57329 nsv509043 5 800181 968319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619401,nssv619400 M 4 1 0 BRD9,TRIP13,ZDHHC11 NA10860 dgv925n67 5 801638 878490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822946,nsv822945 M 31 3 0 ZDHHC11 NA18564,NA18951,NA18968 nsv820403 5 801796 802806 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420486 S 1 0 1 "" NA10851 dgv5904n71 5 806256 876943 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880661,nsv880417,nsv880928,nsv880569,nsv881585,nsv880651 M 6533 7 0 ZDHHC11 SP50099,SP50857,SP52064,SP54050,SP54345,SP54373,SP57010 nsv881427 5 806256 887280 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514116,nssv1504744,nssv1511933,nssv1500429 M 6533 1 3 ZDHHC11 SP50520,SP52719,SP55195,SP55946 esv1684819 5 807357 807357 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596982 S 2 1 0 "" HuRef esv1063767 5 807567 807567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022362 S 2 1 0 "" HuRef esv1785609 5 807579 807579 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606775 S 2 1 0 "" HuRef esv1003781 5 807741 820683 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586639 S 3 0 1 "" HuRef nsv436473 5 808449 893492 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466197 S 2 0 1 Samples from several populations that are part of the HapMap project. ZDHHC11 NA18505 nsv880488 5 812485 1222112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596809 S 6533 1 0 BRD9,LOC100506688,MIR4635,NKD2,SLC12A7,TRIP13,ZDHHC11 IS40646 essv4334 5 813840 926798 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. BRD9,ZDHHC11 NA18622 esv6924 5 814981 815182 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29365 S 1 0 1 "" SJK esv1294761 5 818038 818157 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226527 S 2 0 1 "" HuRef nsv880580 5 822832 876943 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517560,nssv1510613 M 6533 1 1 ZDHHC11 SP54983,SP57322 nsv881594 5 822832 887280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503433 S 6533 0 1 ZDHHC11 SP52057 nsv328262 5 827875 827934 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346840 M 24 "" nsv822947 5 829283 878490 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441046 S 31 1 0 ZDHHC11 NA18969 dgv5905n71 5 831064 893717 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880956,nsv881657,nsv880677 M 6533 3 0 ZDHHC11 SP56100,SP56106,SP80924 dgv5906n71 5 847224 893717 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880434,nsv881447 M 6533 2 0 ZDHHC11 SP50631,SP54225 nsv471431 5 848720 904101 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548263,nssv548261,nssv548262 M 3 ZDHHC11 nsv514286 5 848743 878341 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627728 S 1414 0 1 ZDHHC11 dgv1746e1 5 854362 936065 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25033,essv5833 M 271 0 0 BRD9,ZDHHC11 NA12801,NA18524 nsv822948 5 854901 868134 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439796 S 31 1 0 ZDHHC11 NA18547 nsv519464 5 869095 918411 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696867 S 2026 0 1 BRD9,ZDHHC11 nsv818308 5 869095 918411 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416062,nssv1416063 M 112 2 0 BRD9,ZDHHC11 NA12801,NA12812 dgv926n67 5 873107 875260 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822950,nsv822949 M 31 2 0 ZDHHC11 AK16,NA18997 nsv822951 5 878048 902921 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436594 S 31 1 0 ZDHHC11 NA18542 nsv441936 5 886628 928018 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BRD9,ZDHHC11 nsv329774 5 891956 891956 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348352 M 24 ZDHHC11 nsv327579 5 894394 894465 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346157 M 24 ZDHHC11 nsv330058 5 894587 894658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348636 M 24 ZDHHC11 esv33837 5 895229 916851 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100658 S 51 1 0 BRD9,ZDHHC11 21656 nsv830186 5 898120 1019970 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444182,nssv1444181,nssv1444180,nssv1444187,nssv1444183,nssv1444188,nssv1444186 M 95 7 0 BRD9,TRIP13,ZDHHC11 nsv881057 5 905766 934087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504376 S 6533 0 1 BRD9 SP52455 esv22775 5 931264 933989 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20845 S 451 13 0 BRD9 NA12414,NA12828,NA18508,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv822952 5 935322 936243 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434403 S 31 1 0 BRD9 NA18570 esv27211 5 949529 953291 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11746 S 451 1 7 TRIP13 NA11993,NA18508,NA18511,NA18517,NA19108,NA19114,NA19240,NA19257 nsv821226 5 949529 953291 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420487 S 1 0 1 TRIP13 NA10851 esv987824 5 950156 953492 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586732 S 3 1 0 TRIP13 HuRef esv1609077 5 951252 952638 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163234 S 2 0 1 TRIP13 HuRef nsv880383 5 953033 1077055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549172 S 6533 1 0 LOC100506688,NKD2,TRIP13 MS18117 nsv881169 5 971523 1116998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589073 S 6533 0 1 LOC100506688,MIR4635,NKD2,SLC12A7 IS38293 nsv880554 5 1012224 1120535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532131 S 6533 1 0 LOC100506688,MIR4635,NKD2,SLC12A7 MS10722 dgv5907n71 5 1012224 1253573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881653,nsv880658 M 6533 0 2 LOC100506688,MIR4635,NKD2,SLC12A7 MS16153,MS17208 esv33445 5 1012661 1013143 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101385 S 51 0 1 "" 21805 dgv5908n71 5 1022285 1172722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880879,nsv880998,nsv880384,nsv880286,nsv881203,nsv881488,nsv880287 M 6533 0 8 LOC100506688,MIR4635,NKD2,SLC12A7 IS32737,IS34005,IS39417,MS10123,MS10769,MS11306,MS13770,SP54956 nsv469577 5 1024507 1248692 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649690 M 265 0 5 Samples from several populations that are part of the HapMap project. LOC100506688,MIR4635,NKD2,SLC12A7 nsv880538 5 1033015 1222112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525144 S 6533 1 0 LOC100506688,MIR4635,NKD2,SLC12A7 SP55531 nsv470985 5 1045509 1110113 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545074 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506688,NKD2,SLC12A7 HGDP00937 nsv461896 5 1045509 1120535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538222 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506688,MIR4635,NKD2,SLC12A7 HGDP00546 nsv470984 5 1045509 1260526 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545073,nssv545071,nssv545072 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506688,MIR4635,NKD2,SLC12A7,SLC6A19 HGDP00550,HGDP00825 nsv527182 5 1048270 1260527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703578 S 2026 0 1 LOC100506688,MIR4635,NKD2,SLC12A7,SLC6A19 nsv880941 5 1052338 1131642 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590916,nssv1573173 M 6533 1 1 MIR4635,NKD2,SLC12A7 IS33248,IS38603 esv27512 5 1054717 1102393 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21314,esv12636,esv12857,esv13284,esv18711,esv14682 M 451 26 6 NKD2 NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19257 nsv881571 5 1055620 1085032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507798 S 6533 0 1 NKD2 SP54672 nsv822953 5 1056832 1166638 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432833 S 31 1 0 MIR4635,NKD2,SLC12A7 NA18972 esv271762 5 1057250 1061756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516079 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 dgv686n27 5 1063083 1150281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461898,nsv461897 M 1557 0 2 MIR4635,NKD2,SLC12A7 HGDP00545,HGDP00602 dgv5909n71 5 1063083 1293757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880664,nsv881092 M 6533 0 2 MIR4635,NKD2,SLC12A7,SLC6A18,SLC6A19 IS31045,IS39233 dgv5910n71 5 1068063 1146260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881149,nsv880711 M 6533 0 2 MIR4635,NKD2,SLC12A7 MS11237,MS13095 esv1007931 5 1070392 1078796 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564765 S 3 0 1 NKD2 HuRef esv999700 5 1074819 1079705 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586387 S 3 1 0 NKD2 HuRef esv990038 5 1075433 1079004 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582409 S 3 0 1 NKD2 HuRef nsv880448 5 1078375 1135420 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564418 S 6533 1 0 MIR4635,NKD2,SLC12A7 IS30210 nsv329395 5 1089971 1090094 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347973 M 24 NKD2 esv2275216 5 1092595 1092947 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979884 S 1 0 1 "" NA18507 nsv820363 5 1092703 1102393 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420488 S 1 1 0 "" NA10851 nsv461900 5 1094105 1234556 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538225 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4635,SLC12A7 HGDP00788 esv1319388 5 1096262 1097223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024650 S 2 0 1 "" HuRef esv8903 5 1096465 1096776 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31344 S 1 0 1 "" SJK esv2171341 5 1097208 1097693 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909089 S 1 0 1 "" NA18507 esv7412 5 1097306 1101109 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29853 S 1 0 1 "" SJK dgv5911n71 5 1097539 1146260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881276,nsv880348 M 6533 0 2 MIR4635,SLC12A7 IS32322,MS10698 nsv881170 5 1097539 1156495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572775,nssv1573774 M 6533 0 2 MIR4635,SLC12A7 IS33178,IS33504 esv1656257 5 1097748 1097748 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359366 S 2 1 0 "" HuRef esv9551 5 1099331 1100757 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31992 S 1 0 1 "" SJK nsv329100 5 1101189 1101756 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347678 M 24 "" dgv5912n71 5 1105360 1288790 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881353,nsv880570 M 6533 2 0 MIR4635,SLC12A7,SLC6A18,SLC6A19 MS13757,SP50530 nsv513209 5 1112724 1115491 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626711 S 1 0 1 SLC12A7 1 esv7694 5 1114101 1114693 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30135 S 1 0 1 SLC12A7 SJK esv27870 5 1114109 1126452 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16569,esv16922,esv13025 M 451 28 3 MIR4635,SLC12A7 NA07037,NA07045,NA11894,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv987527 5 1114123 1114446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567478 S 3 0 1 SLC12A7 HuRef esv1017705 5 1114253 1114577 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137565 S 2 0 1 SLC12A7 HuRef nsv327933 5 1114402 1114527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346511 M 24 SLC12A7 nsv881632 5 1116998 1172722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575019 S 6533 0 1 SLC12A7 IS33684 nsv880275 5 1116998 1222112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530510 S 6533 0 1 SLC12A7 MS10311 nsv881117 5 1116998 1379852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549667 S 6533 0 1 CLPTM1L,MIR4457,SLC12A7,SLC6A18,SLC6A19,TERT MS18276 nsv820935 5 1122912 1128327 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420489 S 1 0 1 SLC12A7 NA10851 nsv513210 5 1123065 1126673 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626712 S 1 0 1 SLC12A7 1 esv1595100 5 1123127 1123127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240823 S 2 1 0 SLC12A7 HuRef esv1484370 5 1123151 1125630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286837 S 2 0 1 SLC12A7 HuRef nsv329413 5 1123700 1123852 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347991 M 24 SLC12A7 nsv329780 5 1124312 1124312 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348358 M 24 SLC12A7 esv1013230 5 1125693 1126219 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195704 S 2 0 1 SLC12A7 HuRef esv3216 5 1133285 1133662 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25657 S 1 0 1 Single Asian sample YH SLC12A7 YH nsv328577 5 1133351 1133460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347155 M 24 SLC12A7 esv29930 5 1150881 1151931 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12272 S 451 0 1 SLC12A7 NA11993 esv2239100 5 1152298 1152699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582965 S 1 0 1 SLC12A7 NA18507 dgv5913n71 5 1189893 1265357 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880561,nsv880652 M 6533 0 3 SLC6A19 IS34304,IS40396,SP54956 nsv509044 5 1200751 1318687 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619402 S 4 1 0 SLC6A18,SLC6A19,TERT NA10860 nsv510895 5 1200751 1407392 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624296 S 4 0 0 CLPTM1L,MIR4457,SLC6A18,SLC6A19,TERT NA18994 nsv880345 5 1210313 1341547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585834 S 6533 0 1 SLC6A18,SLC6A19,TERT IS37646 esv7776 5 1210446 1210826 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30217 S 1 0 1 "" SJK nsv10655 5 1223057 1224007 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12245,nssv13473,nssv14564,nssv12221,nssv13258,nssv12866,nssv12817,nssv13070,nssv14367,nssv13679,nssv15173,nssv14443,nssv12652,nssv13861,nssv12855,nssv12019 M 31 16 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA11830,NA12872,NA18504,NA18517,NA18537,NA18572,NA18853,NA18942,NA18972,NA19007,NA19132,NA19144,NA19173,NA19240 esv21552 5 1223372 1223922 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14422 S 451 6 0 "" NA07037,NA12004,NA12287,NA12749,NA18907,NA19225 nsv821403 5 1223372 1223922 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420490 S 1 0 1 "" NA10851 esv992257 5 1223397 1223922 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586656 S 3 1 0 "" HuRef nsv881346 5 1223650 1258636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499222 S 6533 0 1 SLC6A19 SP50159 dgv5914n71 5 1223650 1281215 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880424,nsv881580,nsv880672,nsv881689,nsv881248 M 6533 0 9 SLC6A18,SLC6A19 IS31656,IS33455,IS33514,IS37985,IS38176,IS38293,MS11237,MS11579,MS13770 dgv5915n71 5 1223650 1310621 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880746,nsv880489 M 6533 0 3 SLC6A18,SLC6A19,TERT IS32322,IS33504,MS10769 esv1419931 5 1223894 1223894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241950 S 2 1 0 "" HuRef nsv4678 5 1227092 1272145 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8053 S 9 0 1 SLC6A19 NA12156 nsv511283 5 1229601 1239086 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625044 S 1 0 1 "" 1 nsv470986 5 1229601 1260526 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545075 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC6A19 HGDP01371 dgv687n27 5 1229601 1260527 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461904,nsv461905 M 1557 2 0 SLC6A19 HGDP01370,HGDP01371 dgv927n67 5 1231053 1233723 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822955,nsv822958 M 31 0 17 "" AK12,AK16,AK18,AK2,AK20,AK6,NA18537,NA18570,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 esv29858 5 1231138 1233723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10014 S 451 0 18 "" NA06985,NA07037,NA07045,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18916,NA19225 nsv10656 5 1231167 1233615 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12847,nssv14018,nssv12885,nssv12826,nssv13255,nssv13188,nssv12737,nssv12251,nssv14382,nssv12130,nssv13264,nssv13449,nssv12692,nssv12275 M 31 0 14 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18537,NA18552,NA18563,NA18564,NA18980 nsv513211 5 1231217 1233742 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626713 S 1 0 1 "" 1 esv999051 5 1231294 1233732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567594 S 3 0 1 "" HuRef dgv928n67 5 1231638 1233122 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822957,nsv822956 M 31 0 13 "" AK10,AK14,AK4,AK8,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18997 esv33959 5 1231950 1232951 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93938,essv100637,essv101035,essv98242,essv94672,essv94321,essv97039,essv97914,essv95588,essv93076,essv101771,essv94528,essv99046,essv93636,essv96746,essv97097,essv98650,essv100083,essv93454,essv99736,essv98004,essv96429,essv97665,essv99420,essv98388,essv94175 M 51 26 0 "" 21634,21656,21693,21772,21791,21808,21817,21837,21841,21863,21909,21932,21938,21972,22011,22075,22085,22086,22128,22217,22259,22261,22278,22335,22352,22394 esv1009244 5 1232075 1233122 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586814 S 3 1 0 "" HuRef nsv881658 5 1234556 1289212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525145 S 6533 1 0 SLC6A18,SLC6A19 SP55531 esv21546 5 1244347 1245362 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20528,esv9826 M 451 1 1 "" NA19114,NA19190 esv1610123 5 1245312 1245731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876993 S 2 0 1 "" HuRef nsv329212 5 1245398 1245398 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347790 M 24 "" nsv880847 5 1245587 1476905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530511 S 6533 0 1 CLPTM1L,MIR4457,SLC6A18,SLC6A19,SLC6A3,TERT MS10311 esv32648 5 1245823 1246159 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97189 S 51 1 0 "" 22075 esv1226680 5 1245901 1245901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711429 S 2 1 0 "" HuRef esv2346339 5 1245913 1246269 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618060 S 1 0 1 "" NA18507 dgv5916n71 5 1260527 1336426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881530,nsv881249 M 6533 0 2 SLC6A18,SLC6A19,TERT MS16153,MS17208 esv1141661 5 1291757 1291757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045120 S 2 1 0 SLC6A18 HuRef esv1007393 5 1305446 1305504 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577270 S 3 0 1 "" HuRef esv1200655 5 1305462 1305521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824177 S 2 0 1 "" HuRef esv26971 5 1325638 1326963 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13169 S 451 0 1 TERT NA07045 esv1011324 5 1325837 1327639 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564867 S 3 1 0 TERT HuRef esv1454284 5 1325934 1326235 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236273 S 2 0 1 TERT HuRef esv1162125 5 1326607 1326861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798999 S 2 0 1 TERT HuRef esv2214498 5 1328743 1329124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888200 S 1 0 1 TERT NA18507 nsv822959 5 1334107 1371673 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435068 S 31 0 1 CLPTM1L,MIR4457,TERT NA18942 nsv509045 5 1335288 1508718 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620806,nssv619403,nssv619404 M 4 2 0 CLPTM1L,MIR4457,SLC6A3,TERT NA10860,NA15510 esv4559 5 1337967 1338472 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27000 S 1 0 1 Single Asian sample YH TERT YH nsv880418 5 1339516 1526977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538597 S 6533 0 1 CLPTM1L,LPCAT1,MIR4457,SLC6A3,TERT MS13770 esv26968 5 1342227 1345191 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12294 S 451 0 6 TERT NA06985,NA12156,NA15510,NA18909,NA18916,NA19114 esv1351946 5 1342767 1342977 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857570 S 2 0 1 TERT HuRef esv1110943 5 1343901 1343985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851524 S 2 0 1 TERT HuRef nsv822960 5 1344681 1350650 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426639 S 31 1 0 TERT AK6 esv1685189 5 1360476 1360540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665667 S 2 0 1 "" HuRef nsv881444 5 1361552 1423832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546563 S 6533 0 1 CLPTM1L,MIR4457 MS17208 nsv830187 5 1371106 1562826 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444189 S 95 0 1 CLPTM1L,LPCAT1,SLC6A3 esv23092 5 1379425 1382120 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13886 S 451 0 1 CLPTM1L NA12489 esv27773 5 1382580 1383200 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14230 S 451 1 0 CLPTM1L NA19129 nsv4679 5 1382814 1389728 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3147,nssv3320 M 9 2 0 CLPTM1L NA12878,NA18555 esv1008075 5 1386043 1386897 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586263 S 3 0 1 CLPTM1L HuRef esv24171 5 1386043 1386897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16211 S 451 0 14 CLPTM1L NA12776,NA18502,NA18505,NA18517,NA18861,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv820391 5 1386043 1386955 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420492 S 1 1 0 CLPTM1L NA10851 esv1013304 5 1386337 1386337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051760 S 2 1 0 CLPTM1L HuRef esv1673870 5 1386367 1386367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603167 S 2 1 0 CLPTM1L HuRef esv1331109 5 1386396 1386396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714010 S 2 1 0 CLPTM1L HuRef esv1039127 5 1386647 1386647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063874 S 2 1 0 CLPTM1L HuRef esv1783268 5 1386780 1386780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136898 S 2 1 0 CLPTM1L HuRef nsv461908 5 1423832 1447522 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538228 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC6A3 HGDP00971 dgv5917n71 5 1429161 1488893 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880311,nsv880670,nsv881312 M 6533 0 3 SLC6A3 IS39233,MS17208,MS18276 nsv881664 5 1430172 1647879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543437 S 6533 0 1 LPCAT1,SDHAP3,SLC6A3 MS16153 nsv329142 5 1435237 1435310 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347720 M 24 "" nsv880402 5 1465645 1526977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509823 S 6533 0 1 LPCAT1,SLC6A3 SP54956 esv1433047 5 1467546 1467546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785982 S 2 1 0 SLC6A3 HuRef nsv4680 5 1471742 1483374 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8054 S 9 1 0 SLC6A3 NA12156 esv23210 5 1475466 1476481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14057 S 451 0 4 SLC6A3 NA07045,NA12749,NA18916,NA19190 esv1707642 5 1475481 1475481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824062 S 2 1 0 SLC6A3 HuRef nsv328158 5 1476387 1476387 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346736 M 24 SLC6A3 nsv461910 5 1476905 1521287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538229 S 1557 0 1 LPCAT1,SLC6A3 NINDS_113 nsv881100 5 1491354 1526977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510701 S 6533 0 1 LPCAT1,SLC6A3 SP54988 esv21833 5 1498329 1499876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12473 S 451 0 1 SLC6A3 NA07045 nsv881381 5 1501148 1549622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573776 S 6533 0 1 LPCAT1 IS33504 esv1701805 5 1509785 1509785 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638621 S 2 1 0 "" HuRef esv1431236 5 1512205 1512389 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866459 S 2 0 1 "" HuRef nsv328768 5 1512328 1512389 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347346 M 24 "" nsv880939 5 1513131 1572079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532389 S 6533 0 1 LPCAT1 MS10769 esv2462178 5 1518233 1518424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215679 S 1 0 1 LPCAT1 NA18507 esv3186 5 1518273 1518851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25627 S 1 0 1 Single Asian sample YH LPCAT1 YH dgv5918n71 5 1519813 1651468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881644,nsv880471 M 6533 0 2 LOC728613,LPCAT1,SDHAP3 IS33665,MS18276 dgv5919n71 5 1521287 1749932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881554,nsv881096,nsv880740 M 6533 0 3 LOC728613,LPCAT1,SDHAP3 IS39233,MS10311,MS17208 nsv880392 5 1531021 1554695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534695 S 6533 0 1 LPCAT1 MS11726 nsv881211 5 1531021 1589257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576679 S 6533 0 1 LPCAT1 IS34235 esv2387011 5 1536778 1537160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970821 S 1 0 1 LPCAT1 NA18507 nsv329642 5 1536831 1536930 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348220 M 24 LPCAT1 dgv5920n71 5 1543594 1579098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880303,nsv880527 M 6533 0 2 LPCAT1 IS33684,IS35484 nsv880498 5 1556610 1601764 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547587 S 6533 1 0 LPCAT1 MS17484 esv994195 5 1564473 1564473 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583079 S 3 1 0 LPCAT1 HuRef nsv880305 5 1572197 1605255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573777 S 6533 0 1 LPCAT1 IS33504 esv27188 5 1576313 1577208 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16066 S 451 0 1 LPCAT1 NA07045 nsv509046 5 1585446 1627191 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623432,nssv619405 M 4 2 0 SDHAP3 NA10860,NA18994 nsv881648 5 1590141 1630521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561910 S 6533 1 0 SDHAP3 MS25285 dgv5921n71 5 1590141 1651468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881574,nsv881282 M 6533 0 2 LOC728613,SDHAP3 MS10769,MS16315 esv2512225 5 1592500 1593087 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304897 S 1 1 0 "" NA18507 nsv10657 5 1597428 1686373 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14473,nssv13479,nssv12856 M 31 0 3 Samples from several populations that are part of the HapMap project. LOC728613,SDHAP3 NA12740,NA18504,NA18552 nsv881206 5 1603734 1630521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540762 S 6533 1 0 SDHAP3 MS15022 esv2364310 5 1615067 1615459 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982236 S 1 0 1 "" NA18507 esv1456716 5 1622985 1622985 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622034 S 2 1 0 "" HuRef esv1266763 5 1638517 1638517 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954414 S 2 1 0 SDHAP3 HuRef nsv880390 5 1665612 1706418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538598 S 6533 0 1 LOC728613 MS13770 esv27239 5 1673571 1677351 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20103 S 451 1 0 LOC728613 NA12156 nsv471723 5 1680164 1681819 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646004 M 0.973 95 LOC728613 dgv5922n71 5 1682407 1724200 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880788,nsv881328 M 6533 0 5 LOC728613 IS33504,IS33601,IS35484,MS10769,MS16153 esv28203 5 1684508 1689570 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19841 S 451 0 1 LOC728613 NA11995 nsv433369 5 1697735 1709054 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463250 S 9 1 0 "" NA15510 nsv329999 5 1701229 1701701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348577 M 24 "" nsv518935 5 1706418 1708800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696400 S 2026 0 1 "" esv23729 5 1706724 1707694 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19050 S 451 0 1 "" NA19190 esv8290 5 1713078 1808048 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30731 S 1 0 0 MIR4277 SJK nsv511296 5 1714397 1723369 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625188 S 1 0 1 "" 1 esv1979013 5 1715929 1716445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847931 S 1 0 1 "" NA18507 esv2617458 5 1716059 1717672 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197433 S 1 0 1 "" NA18507 nsv513212 5 1716090 1717500 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626714 S 1 0 1 "" 1 esv4939 5 1716115 1716402 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27380 S 1 0 1 Single Asian sample YH "" YH esv3335 5 1716487 1717418 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25776 S 1 0 1 Single Asian sample YH "" YH esv2152150 5 1716625 1717450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660244 S 1 0 1 "" NA18507 esv26853 5 1716762 1717383 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16423 S 451 2 11 "" NA07037,NA07045,NA11894,NA12006,NA12239,NA12489,NA12749,NA18508,NA18523,NA18907,NA18916,NA19147,NA19257 esv1503883 5 1717166 1717280 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274087 S 2 0 1 "" HuRef esv5136 5 1735415 1735860 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27577 S 1 0 1 Single Asian sample YH "" YH esv5831 5 1735455 1735790 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28272 S 1 0 1 "" SJK nsv881179 5 1758102 1828600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592153 S 6533 0 1 MIR4277 IS39233 dgv5923n71 5 1776445 1822749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880472,nsv881473,nsv880829,nsv880725 M 6533 0 4 "" IS33504,IS37646,MS17208,MS18276 esv22873 5 1785977 1786542 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20233 S 451 1 0 "" NA12156 nsv881123 5 1806306 1828600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543439 S 6533 0 1 "" MS16153 esv6751 5 1821993 1822251 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29192 S 1 0 1 "" SJK esv998499 5 1822067 1822235 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578277 S 3 0 1 "" HuRef esv1300520 5 1822103 1822233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178555 S 2 0 1 "" HuRef nsv327153 5 1822103 1822349 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345731 M 24 "" nsv509955 5 1825601 1831601 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623970,nssv618197,nssv622078 M 4 0 3 "" CHM,NA10860,NA18994 esv268994 5 1865618 1865953 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514689,essv2519208,essv2517524,essv2517072,essv2518775,essv2514863,essv2515360,essv2515070,essv2515535,essv2517942,essv2514315,essv2517833,essv2518207 M 157 13 0 Samples from several populations that are part of the HapMap project. NDUFS6 NA11840,NA11894,NA11918,NA11931,NA12045,NA12234,NA12249,NA12812,NA12815,NA12872,NA12874,NA12878,NA19240 esv272394 5 1865618 1865953 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581540,essv2581227 M 7 2 0 Samples from several populations that are part of the HapMap project. NDUFS6 NA12878,NA19240 nsv461911 5 1873557 1908301 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538230 S 1557 0 1 "" NINDS_50 dgv5924n71 5 1875326 1939471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880647,nsv881619 M 6533 0 2 IRX4 IS32888,IS39233 nsv881557 5 1875326 1985463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543440 S 6533 0 1 IRX4 MS16153 nsv328989 5 1895968 1896083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347567 M 24 "" esv1369478 5 1898660 1898660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896449 S 2 1 0 "" HuRef dgv5925n71 5 1903563 1945759 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881188,nsv881470 M 6533 0 2 IRX4 SP54956,SP54988 nsv821452 5 1910919 1911734 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420493 S 1 0 1 "" NA10851 nsv330053 5 1910930 1911133 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348631 M 24 "" esv21624 5 1910949 1911599 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16194 S 451 0 13 "" NA11894,NA12156,NA15510,NA18502,NA18505,NA18508,NA18517,NA18861,NA19099,NA19114,NA19190,NA19240,NA19257 esv2448113 5 1920190 1920703 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389131 S 1 1 0 "" NA18507 nsv822961 5 1930184 1930830 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435069 S 31 0 1 IRX4 NA18942 nsv822962 5 1930770 1941630 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432835 S 31 1 0 IRX4 NA18972 esv25789 5 1933874 1936019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16732,esv12906 M 451 0 2 IRX4 NA19147,NA19190 dgv5926n71 5 1933891 1989443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880886,nsv880460 M 6533 0 2 IRX4 MS10123,MS11726 nsv822963 5 1937480 1938198 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436597 S 31 1 0 "" NA18542 dgv5927n71 5 1945995 1999697 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880562,nsv880653,nsv881650,nsv881174,nsv880381 M 6533 7 0 "" IS30149,IS33055,IS36315,IS39420,IS40473,IS40577,IS41497 nsv508344 5 1958222 2029860 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619952 S 4 0 1 "" NA15510 nsv881562 5 1960974 2029187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530513 S 6533 0 1 "" MS10311 nsv880964 5 1965921 2006161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575021 S 6533 0 1 "" IS33684 nsv513213 5 1977374 1980307 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626715 S 1 0 1 "" 1 esv1981345 5 1977412 1978372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673875 S 1 0 1 "" NA18507 dgv929n67 5 1977445 1978219 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822964,nsv822966 M 31 0 24 "" AK10,AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18997,NA18999 esv3571 5 1977514 1978296 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26012 S 1 0 1 Single Asian sample YH "" YH nsv821055 5 1977523 1978219 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420494 S 1 0 1 "" NA10851 esv997465 5 1977555 1978219 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586795 S 3 0 1 "" HuRef esv1007483 5 1977590 1978201 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582658 S 3 0 1 "" HuRef esv1190151 5 1977591 1978203 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236159 S 2 0 1 "" HuRef nsv328687 5 1977592 1978203 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347265 M 24 "" esv6323 5 1977594 1978207 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28764 S 1 0 1 "" SJK esv1000391 5 1977604 1978065 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586326 S 3 0 1 "" HuRef esv27749 5 1977604 1978111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12905 S 451 0 25 "" NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12287,NA12489,NA12776,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19257 nsv516663 5 1985463 1987666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653297,nssv682069,nssv669410 M 2026 0 3 "" esv2535950 5 1993769 1995444 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230679 S 1 0 1 "" NA18507 esv2419947 5 1993958 1994654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764966 S 1 0 1 "" NA18507 esv3341 5 1994047 1994627 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25782 S 1 0 1 Single Asian sample YH "" YH esv7044 5 1994145 1994522 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29485 S 1 0 1 "" SJK esv2451339 5 2003083 2004780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199413 S 1 0 1 "" NA18507 esv2119965 5 2003843 2004641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668420 S 1 0 1 "" NA18507 esv3549 5 2003993 2004607 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25990 S 1 0 1 Single Asian sample YH "" YH esv989414 5 2004012 2004454 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574448 S 3 0 1 "" HuRef esv8953 5 2004017 2004462 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31394 S 1 0 1 "" SJK esv29141 5 2004028 2004678 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20034 S 451 1 0 "" NA19225 esv22889 5 2008918 2009803 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11779 S 451 0 1 "" NA15510 esv1005135 5 2020491 2026444 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565527 S 3 0 1 "" HuRef nsv4681 5 2020628 2063091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7143 S 9 0 1 "" NA12156 esv2467621 5 2020700 2025118 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236886 S 1 0 1 "" NA18507 nsv435813 5 2021078 2026420 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466198 S 2 0 1 "" NA15510 esv1955161 5 2021225 2024746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746744 S 1 0 1 "" NA18507 nsv513214 5 2021352 2024723 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626716 S 1 0 1 "" 1 esv3536 5 2021366 2024647 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25977 S 1 0 1 Single Asian sample YH "" YH esv7765 5 2021395 2024580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30206 S 1 0 1 "" SJK nsv327737 5 2021414 2024601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346315 M 24 "" esv2162702 5 2025210 2025615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667339 S 1 0 1 "" NA18507 nsv329082 5 2025343 2025444 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347660 M 24 "" nsv329542 5 2025476 2025576 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348120 M 24 "" nsv330197 5 2037816 2037816 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348775 M 24 "" nsv520041 5 2094665 2119165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660233,nssv683678,nssv675476,nssv681842,nssv679247 M 2026 0 5 "" esv8899 5 2112008 2122856 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31340 S 1 0 0 "" SJK nsv523478 5 2128162 2144155 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699241 S 2026 1 0 "" nsv515642 5 2130580 2130642 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681856,nssv680658,nssv673210,nssv679385,nssv664208,nssv682185,nssv654297 M 2026 7 0 "" esv22704 5 2134956 2136090 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9901 S 451 21 0 "" NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA18502,NA18523,NA18858,NA18916,NA19114,NA19147,NA19190,NA19225 nsv518651 5 2170795 2182738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696100 S 2026 0 1 "" esv2316813 5 2187924 2188315 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572668 S 1 0 1 "" NA18507 nsv329978 5 2188118 2188207 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348556 M 24 "" nsv509048 5 2196518 2230137 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620807,nssv618036,nssv619406 M 4 3 0 "" CHM,NA10860,NA15510 esv26550 5 2198085 2200910 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14556 S 451 0 7 "" NA12004,NA12239,NA18517,NA18907,NA19147,NA19190,NA19257 esv1098601 5 2199341 2199341 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992778 S 2 1 0 "" HuRef esv1572571 5 2199642 2199885 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145974 S 2 0 1 "" HuRef nsv880972 5 2199761 2243572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530514 S 6533 0 1 "" MS10311 nsv880947 5 2199761 2304313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538599 S 6533 0 1 "" MS13770 dgv5928n71 5 2203273 2266762 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881232,nsv880789 M 6533 0 3 "" MS11306,MS13095,MS17208 nsv329547 5 2205430 2205499 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348125 M 24 "" esv1447397 5 2205674 2205744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171573 S 2 0 1 "" HuRef nsv328879 5 2205675 2205744 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347457 M 24 "" dgv5929n71 5 2212490 2243572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880859,nsv880435,nsv881517,nsv881067 M 6533 0 9 "" IS32322,IS32841,IS32888,IS33665,IS33684,IS38176,IS39233,IS40799,MS18276 nsv526334 5 2231140 2239956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702624 S 2026 0 1 "" nsv328196 5 2233318 2233318 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346774 M 24 "" esv1010926 5 2233324 2233324 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582601 S 3 1 0 "" HuRef nsv328679 5 2233460 2233460 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347257 M 24 "" dgv930n67 5 2261323 2264665 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822968,nsv822967 M 31 2 0 "" AK20,NA18542 nsv821100 5 2261323 2264665 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420495 S 1 0 1 "" NA10851 esv1001895 5 2261444 2264366 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587024 S 3 0 1 "" HuRef esv2536836 5 2261743 2264182 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307877 S 1 0 1 "" NA18507 nsv880741 5 2287095 2339472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549672 S 6533 0 1 "" MS18276 esv29911 5 2304836 2305406 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18978 S 451 0 1 "" NA19190 esv2074606 5 2324527 2325009 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4679608 S 1 0 1 "" NA18507 esv25956 5 2332465 2333940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12407 S 451 0 1 "" NA19257 nsv518122 5 2339472 2344316 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695538 S 2026 0 1 "" esv7904 5 2365580 2365673 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30345 S 1 1 0 "" SJK nsv821640 5 2372402 2465379 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421387 S 31 0 1 "" esv2378804 5 2425018 2425421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732235 S 1 0 1 "" NA18507 esv275088 5 2470417 2472783 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585973 S 1250 0 1 "" esv29601 5 2543114 2544757 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11206,esv12826 M 451 1 10 "" NA11995,NA12004,NA12239,NA12828,NA15510,NA18505,NA18511,NA18517,NA18861,NA18916,NA19225 esv2602806 5 2543202 2544961 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262987 S 1 0 1 "" NA18507 nsv820600 5 2543433 2544693 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420496 S 1 1 0 "" NA10851 nsv327759 5 2544006 2544006 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346337 M 24 "" esv2380502 5 2565207 2565610 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539428 S 1 0 1 "" NA18507 esv23978 5 2571710 2572182 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18982 S 451 0 7 "" NA18505,NA19108,NA19114,NA19129,NA19225,NA19240,NA19257 nsv880499 5 2572363 2672669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546568 S 6533 0 1 "" MS17208 esv25281 5 2592267 2595312 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20441 S 451 0 3 "" NA12287,NA19108,NA19190 esv2586530 5 2594313 2595586 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292645 S 1 0 1 "" NA18507 esv2053204 5 2594674 2595337 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500848 S 1 0 1 "" NA18507 esv992497 5 2617584 2617691 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573318 S 3 0 1 "" HuRef esv1609591 5 2617601 2617682 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018074 S 2 0 1 "" HuRef esv4032 5 2617608 2617940 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26473 S 1 0 1 Single Asian sample YH "" YH nsv881097 5 2632350 2688891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599376 S 6533 0 1 "" IS41634 esv271477 5 2636946 2637031 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516050 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv2457016 5 2650202 2651806 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353579 S 1 0 1 "" NA18507 nsv523782 5 2678833 2694522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699607 S 2026 0 1 "" esv1466747 5 2686761 2686761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347156 S 2 1 0 "" HuRef esv7225 5 2705889 2705977 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29666 S 1 1 0 "" SJK esv1963605 5 2709977 2710388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4850978 S 1 0 1 "" NA18507 esv27687 5 2765700 2768340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13098 S 451 0 1 "" NA18858 dgv931n67 5 2782160 2815526 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822970,nsv822969,nsv822971,nsv822973,nsv822974 M 31 5 0 C5orf38,IRX2 AK10,AK12,AK14,AK18,NA18968 nsv822972 5 2785821 2824456 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426643 S 31 1 0 C5orf38,IRX2 AK6 nsv461913 5 2788736 2828090 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538231 S 1557 0 1 C5orf38,IRX2 1780862414_A nsv822975 5 2793567 2802024 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436600 S 31 1 0 IRX2 NA18542 nsv822977 5 2800046 2809981 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432837 S 31 1 0 C5orf38,IRX2 NA18972 esv2289362 5 2815237 2815704 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741184 S 1 0 1 "" NA18507 esv2488971 5 2821630 2823226 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236612 S 1 0 1 "" NA18507 esv2205425 5 2822242 2822831 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899702 S 1 0 1 "" NA18507 esv5137 5 2822395 2822705 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27578 S 1 0 1 Single Asian sample YH "" YH esv2600461 5 2822424 2822640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359756 S 1 0 1 "" NA18507 esv9291 5 2822425 2822650 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31732 S 1 0 1 "" SJK esv24709 5 2822433 2830414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9965,esv13909 M 451 0 2 "" NA19190,NA19240 esv2310822 5 2837514 2837880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001196 S 1 0 1 "" NA18507 esv4452 5 2837567 2837926 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26893 S 1 0 1 Single Asian sample YH "" YH esv27578 5 2872106 2874221 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16167 S 451 0 4 "" NA18511,NA19114,NA19190,NA19240 nsv513215 5 2914243 2916581 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626717 S 1 0 1 "" 1 esv3518 5 2915577 2916441 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25959 S 1 0 1 Single Asian sample YH "" YH esv27435 5 2915645 2916380 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10776 S 451 0 1 "" NA12006 esv23820 5 2926710 2928151 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16719,esv20627 M 451 21 0 "" NA07045,NA11931,NA12004,NA12156,NA12414,NA12749,NA12776,NA12828,NA15510,NA18511,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821429 5 2926710 2928151 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420497 S 1 0 1 "" NA10851 nsv822978 5 2926997 2927942 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438804,nssv1425851,nssv1439818,nssv1424191 M 31 4 0 "" NA18547,NA18582,NA18968,NA18973 nsv822979 5 2998763 2999279 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441049 S 31 0 1 "" NA18969 nsv881365 5 3010068 3034865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518701 S 6533 0 1 "" SP57925 esv5082 5 3054198 3054568 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27523 S 1 0 1 Single Asian sample YH "" YH esv1006443 5 3054306 3054413 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571315 S 3 0 1 "" HuRef esv2260241 5 3068384 3068829 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566327 S 1 0 1 "" NA18507 esv3541 5 3068497 3068723 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25982 S 1 0 1 Single Asian sample YH "" YH esv2752065 5 3129853 3207670 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981429,essv6981430,essv6981431,essv6985569 M 771 1 0 "" BEC_191 esv2403100 5 3131408 3131927 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766180 S 1 0 1 "" NA18507 esv1290506 5 3131592 3131658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4316826 S 2 0 1 "" HuRef esv1263107 5 3131684 3131750 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162450 S 2 0 1 "" HuRef nsv507226 5 3143565 3149565 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620278 S 4 1 0 "" NA15510 nsv830188 5 3172019 3358225 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444190 S 95 1 0 "" esv2066516 5 3194359 3194690 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569849 S 1 0 1 "" NA18507 nsv328607 5 3194446 3194545 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347185 M 24 "" nsv516420 5 3221780 3228819 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695043,nssv698697,nssv669100,nssv668255,nssv686430,nssv693965 M 2026 1 5 "" nsv526522 5 3225052 3232620 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702834 S 2026 1 0 "" nsv428460 5 3262387 3435889 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450322 S 62 1 0 "" HGDP01093 nsv518758 5 3264052 3272694 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696206 S 2026 1 0 "" nsv522264 5 3264883 3270841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695044 S 2026 0 1 "" nsv881255 5 3268661 3306177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557248 S 6533 0 1 "" MS22524 nsv509049 5 3323286 3414053 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619407 S 4 1 0 "" NA10860 nsv510941 5 3323286 3508136 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621577 S 4 0 0 LOC285577 NA15510 nsv520787 5 3369991 3373132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691947,nssv675419 M 2026 0 2 "" esv1605957 5 3377459 3377519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151500 S 2 0 1 "" HuRef nsv509050 5 3425394 3508136 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619408 S 4 1 0 LOC285577 NA10860 nsv830189 5 3441264 3588044 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444191 S 95 0 1 LOC285577 dgv5930n71 5 3442796 3504196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880872,nsv880990 M 6533 0 2 LOC285577 IS35675,IS36131 esv1370278 5 3445676 3445676 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344843 S 2 1 0 "" HuRef esv1962290 5 3473301 3473836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996545 S 1 0 1 LOC285577 NA18507 nsv507227 5 3552089 3558089 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620279 S 4 1 0 LOC285577 NA15510 esv2302078 5 3552090 3552772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875044 S 1 0 1 LOC285577 NA18507 esv1150812 5 3552273 3552594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129610 S 2 0 1 LOC285577 HuRef esv2520977 5 3554121 3555844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393846 S 1 0 1 LOC285577 NA18507 esv1978541 5 3555143 3555828 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599619 S 1 0 1 LOC285577 NA18507 esv3550 5 3555263 3555794 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25991 S 1 0 1 Single Asian sample YH LOC285577 YH esv8849 5 3555327 3555638 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31290 S 1 0 1 LOC285577 SJK esv1196382 5 3555327 3555655 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952101 S 2 0 1 LOC285577 HuRef esv2220530 5 3561695 3562126 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790077 S 1 0 1 LOC285577 NA18507 esv268732 5 3562788 3563137 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508964,essv2498524,essv2505847,essv2501440,essv2499659 M 157 5 0 Samples from several populations that are part of the HapMap project. LOC285577 NA18522,NA18858,NA18861,NA19093,NA19225 nsv4682 5 3595591 3640554 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8055 S 9 0 1 "" NA12156 nsv528971 5 3601746 3609260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705670 S 2026 0 1 "" nsv461914 5 3610671 3675257 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538232 S 1557 0 1 IRX1 1780862306_A dgv1747e1 5 3629619 3840514 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17326,essv9980,essv4162,essv5066,esv398 M 271 0 0 IRX1 NA18555,NA18576,NA18856,NA19099 nsv428461 5 3629619 3840514 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450323 S 62 0 1 IRX1 NA19189 dgv932n67 5 3631734 3668570 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv822980,nsv822981,nsv822982 M 31 3 0 IRX1 AK10,AK12,AK6 nsv822983 5 3638830 3680208 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425864 S 31 1 0 IRX1 NA18968 nsv822984 5 3643051 3659550 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432838 S 31 1 0 IRX1 NA18972 nsv516530 5 3644916 3652320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673540,nssv672191,nssv691824,nssv668911,nssv692855 M 2026 0 5 IRX1 nsv10658 5 3645186 3661624 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15300 S 31 1 0 Samples from several populations that are part of the HapMap project. IRX1 NA19221 esv22909 5 3647547 3649541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21142 S 451 0 1 IRX1 NA07045 esv26504 5 3688532 3692513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11330,esv11353 M 451 0 6 "" NA12156,NA12287,NA12776,NA12878,NA15510,NA19147 nsv4683 5 3690041 3698879 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2504 S 9 0 1 "" NA18555 nsv821274 5 3690075 3692413 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420498 S 1 0 1 "" NA10851 esv2496493 5 3690204 3692794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330977 S 1 0 1 "" NA18507 nsv513216 5 3690754 3692445 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626718 S 1 0 1 "" 1 esv1371010 5 3690952 3692074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127842 S 2 0 1 "" HuRef esv4150 5 3690976 3692543 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26591 S 1 0 1 Single Asian sample YH "" YH nsv524348 5 3697729 3741588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700256 S 2026 0 1 "" nsv509051 5 3698675 3716021 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620809 S 4 1 0 "" NA15510 nsv4684 5 3705637 3745284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2505 S 9 0 1 "" NA18555 dgv933n67 5 3709885 3712912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822986,nsv822985 M 31 0 4 "" AK12,NA18526,NA18537,NA18968 nsv10659 5 3710011 3713713 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12896,nssv14511,nssv12915 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18537,NA18860,NA19007 esv7416 5 3710083 3713538 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29857 S 1 0 1 "" SJK nsv499739 5 3710088 3713546 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585944 S 9 0 1 "" nsv514287 5 3710238 3712771 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627729 S 1414 0 1 "" nsv822988 5 3711802 3712912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434406 S 31 0 1 "" NA18570 nsv822989 5 3712394 3712912 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437428 S 31 0 1 "" NA18949 esv26566 5 3712736 3713509 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20816 S 451 0 1 "" NA18502 esv2430585 5 3712971 3713766 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234364 S 1 1 0 "" NA18507 nsv512846 5 3712999 3713076 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625484 S 1 1 0 "" 1 esv1046780 5 3713255 3713255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353532 S 2 1 0 "" HuRef esv1361510 5 3713333 3713333 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952012 S 2 1 0 "" HuRef nsv461915 5 3731658 3753168 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538233 S 1557 0 1 "" 1780862401_A nsv523463 5 3741426 3745051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699221 S 2026 0 1 "" nsv4685 5 3797705 3842825 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8056 S 9 0 1 "" NA12156 nsv328907 5 3814433 3814433 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347485 M 24 "" nsv329791 5 3838378 3839405 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348369 M 24 "" esv1252407 5 3838477 3838884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696091 S 2 0 1 "" HuRef esv1452305 5 3839012 3839463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855058 S 2 0 1 "" HuRef nsv880820 5 3847274 3886240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502773 S 6533 1 0 "" SP51411 esv26984 5 3862831 4055533 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16547 S 451 1 0 "" NA12156 nsv4686 5 3939588 3960654 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4816,nssv7144 M 9 2 0 "" NA12156,NA19129 nsv523046 5 4012107 4020342 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698729 S 2026 0 1 "" nsv518961 5 4012107 4026783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696428 S 2026 0 1 "" nsv4688 5 4034281 4047548 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3321 S 9 1 0 "" NA12878 esv270614 5 4048160 4048501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519236,essv2514126,essv2518835,essv2515323,essv2515087,essv2516621,essv2515779,essv2515917,essv2517891,essv2518264,essv2513607 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA12043,NA12045,NA12249,NA12812,NA12814,NA12815,NA12873,NA12878,NA19240 esv272312 5 4048160 4048501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581351,essv2581280 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1177725 5 4048199 4048199 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279432 S 2 1 0 "" HuRef esv1684798 5 4068235 4068235 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899429 S 2 1 0 "" HuRef esv267978 5 4128811 4129159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517028,essv2514115,essv2515661,essv2517657,essv2519016,essv2518334 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12043,NA12815,NA12878,NA19141,NA19240 esv274374 5 4128811 4129159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581447,essv2581286 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv509052 5 4222691 4261253 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623434,nssv620810 M 4 2 0 "" NA15510,NA18994 nsv830190 5 4280335 4477875 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444192 S 95 1 0 "" esv25762 5 4378180 4378851 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19628 S 451 1 0 "" NA18502 nsv830191 5 4410811 4608531 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444217,nssv1444216,nssv1444215,nssv1444214,nssv1444194,nssv1444202,nssv1444193,nssv1444195,nssv1444201,nssv1444199,nssv1444198,nssv1444197,nssv1444200,nssv1444206,nssv1444203,nssv1444213,nssv1444211,nssv1444205,nssv1444204,nssv1444210,nssv1444208,nssv1444209,nssv1444212 M 95 11 12 "" esv2073146 5 4512255 4512648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509019 S 1 0 1 "" NA18507 esv1480736 5 4512413 4512484 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634967 S 2 0 1 "" HuRef esv23238 5 4518031 4519632 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11480 S 451 0 1 "" NA19108 nsv509956 5 4547603 4553603 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622079,nssv618198,nssv623971,nssv621257 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2133156 5 4631984 4632521 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769822 S 1 0 1 "" NA18507 nsv461918 5 4701027 4714512 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538234 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00721 nsv881495 5 4747001 4925310 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554985 S 6533 1 0 "" MS21124 nsv461919 5 4798848 4838389 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538235 S 1557 0 1 "" 1780854538_A nsv830193 5 4803370 4966036 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444219 S 95 1 0 "" esv2644240 5 4868541 4870005 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276948 S 1 0 1 "" NA18507 esv23114 5 4895976 4897522 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11422 S 451 0 2 "" NA12414,NA12828 esv1966970 5 4896805 4897214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659428 S 1 0 1 "" NA18507 esv2122305 5 4919378 4919791 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644859 S 1 0 1 "" NA18507 nsv4689 5 4937196 4972123 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3322 S 9 1 0 "" NA12878 esv275244 5 4992492 4997558 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585565,essv2585603 M 1250 1 1 "" dgv1748e1 5 5033876 5237615 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv58,essv19916 M 271 0 0 ADAMTS16,LOC340094 NA12813 nsv880436 5 5035643 5091540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554379 S 6533 0 1 LOC340094 MS20771 nsv830194 5 5055459 5240667 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444220 S 95 1 0 ADAMTS16,LOC340094 nsv528548 5 5103830 5113591 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705160 S 2026 1 0 LOC340094 nsv4690 5 5103964 5126763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9657 S 9 1 0 LOC340094 NA18507 nsv10660 5 5141517 5148759 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14397,nssv14541 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA19132 nsv523109 5 5145262 5146172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698806 S 2026 0 1 "" nsv10662 5 5160264 5163038 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12926 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 esv3044 5 5160806 5162956 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25485 S 1 0 1 Single Asian sample YH "" YH esv26408 5 5160888 5162888 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10291 S 451 0 1 "" NA19108 dgv934n67 5 5161534 5162885 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv822991,nsv822990 M 31 0 2 "" NA18973,NA18997 nsv4691 5 5184756 5215800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11098 S 9 1 0 ADAMTS16 NA15510 nsv329641 5 5185421 5185421 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348219 M 24 "" esv1623581 5 5185453 5185453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888915 S 2 1 0 "" HuRef esv25455 5 5192974 5193869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14188 S 451 0 1 ADAMTS16 NA07045 nsv526817 5 5234558 5236783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703171 S 2026 0 1 ADAMTS16 esv269786 5 5332759 5332923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507710,essv2503861,essv2493331,essv2494771,essv2497795,essv2507921,essv2512880,essv2505208,essv2503487,essv2500805,essv2501243,essv2493881 M 157 12 0 Samples from several populations that are part of the HapMap project. ADAMTS16 NA12751,NA12761,NA12776,NA18519,NA18555,NA18564,NA18609,NA18853,NA18947,NA18973,NA19093,NA19210 esv5491 5 5358265 5358636 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27932 S 1 0 1 ADAMTS16 SJK nsv528309 5 5487937 5505839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704887 S 2026 0 1 KIAA0947 dgv1749e1 5 5500098 5817620 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18581,esv277 M 271 0 0 KIAA0947 NA12234 nsv528961 5 5547739 5549480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705657 S 2026 0 1 "" esv1004304 5 5548803 5549136 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565208 S 3 1 0 "" HuRef dgv141e180 5 5548880 5550926 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995745,esv1008476 M 3 1 0 "" HuRef nsv518861 5 5549203 5549480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696316 S 2026 0 1 "" esv2538105 5 5647740 5648670 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167865 S 1 1 0 "" NA18507 esv271137 5 5648224 5648548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558230,essv2565820,essv2541049,essv2546204,essv2521368,essv2526171,essv2542475,essv2523002,essv2544037,essv2556498,essv2568169,essv2545325,essv2531680,essv2577422,essv2570639,essv2548616,essv2521658,essv2576538,essv2550811,essv2525290,essv2550350,essv2535156,essv2554276,essv2544538,essv2552142,essv2520653,essv2547195,essv2529139,essv2558404,essv2577830,essv2553521,essv2565549,essv2576165,essv2520193,essv2564105,essv2555061,essv2530685,essv2561897,essv2537698,essv2528198,essv2547086,essv2540183,essv2556844,essv2552402,essv2532088,essv2562742,essv2569556,essv2578539,essv2558777,essv2536819,essv2539068,essv2569796,essv2527278,essv2561646,essv2544877,essv2562920,essv2523809,essv2553089,essv2542782,essv2540311,essv2524710,essv2564815,essv2534698,essv2539692,essv2549183,essv2519616,essv2559818,essv2522200,essv2566131,essv2531269,essv2567935,essv2529051,essv2567523,essv2541857,essv2570324,essv2563841,essv2553141,essv2535698,essv2572434,essv2566743,essv2542051,essv2569130,essv2543674,essv2556228,essv2527939,essv2562153,essv2539307,essv2534073,essv2578137,essv2573026,essv2555343,essv2533518,essv2555795,essv2567282,essv2566555,essv2573850,essv2527521,essv2557694,essv2555875,essv2534203,essv2522594,essv2531418,essv2573699,essv2543165,essv2572158,essv2525810,essv2527011,essv2529668,essv2575420,essv2575173,essv2538558,essv2526698,essv2524260,essv2574579,essv2530354,essv2568461,essv2545149,essv2560475,essv2549847,essv2571338,essv2545758,essv2574474,essv2551352,essv2536227,essv2537776,essv2548971,essv2533180,essv2554621,essv2524968,essv2563518 M 157 130 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272204 5 5648224 5648548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582234,essv2582435,essv2583074 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1194192 5 5648248 5648248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652514 S 2 1 0 "" HuRef esv2511100 5 5663151 5664762 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172645 S 1 0 1 "" NA18507 esv991019 5 5663411 5664150 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564992 S 3 0 1 "" HuRef esv2259911 5 5663596 5664250 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599850 S 1 0 1 "" NA18507 esv988688 5 5663673 5664032 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571434 S 3 0 1 "" HuRef esv1032020 5 5663720 5664080 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4237690 S 2 0 1 "" HuRef nsv327942 5 5663791 5664150 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346520 M 24 "" nsv4692 5 5723397 5757538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3148 S 9 1 0 "" NA18555 nsv471724 5 5731704 5733983 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646005 M 0.043 95 "" esv2421606 5 5731760 5733901 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5141387,essv5034936,essv5106034,essv5144458,essv5111587,essv5082030,essv5154565,essv5154507,essv5107093,essv5045455,essv5090409,essv5022006,essv5069475,essv5038933,essv5034447 M 1184 0 15 "" NA19472,NA19750,NA20522,NA21339,NA21355,NA21399,NA21401,NA21405,NA21434,NA21438,NA21439,NA21512,NA21514,NA21620,NA21683 esv23560 5 5731837 5733889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11049 S 451 0 1 "" NA18523 nsv521118 5 5731997 5733337 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682499,nssv692719 M 2026 0 2 "" esv25410 5 5738176 5739358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10138 S 451 0 1 "" NA18505 esv269916 5 5786258 5786604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513860 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv830195 5 5801849 6016043 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444221 S 95 0 1 "" esv269031 5 5808675 5808986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502994,essv2494002,essv2510429,essv2497094 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18871,NA19172,NA19190 nsv328347 5 5863660 5863660 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346925 M 24 "" esv1731828 5 5863683 5863683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691140 S 2 1 0 "" HuRef nsv328352 5 5863691 5863691 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346930 M 24 "" esv1306059 5 5869201 5869439 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332464 S 2 0 1 "" HuRef esv1195049 5 5869469 5869469 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350612 S 2 1 0 "" HuRef esv1135811 5 5869728 5869728 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737668 S 2 1 0 "" HuRef nsv523920 5 5878953 6044958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699763 S 2026 0 1 "" nsv461920 5 5893686 5910554 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538236 S 1557 0 1 "" 1798860565_A nsv881118 5 5909524 6021925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563604 S 6533 0 1 "" MS26123 nsv509957 5 5923420 5929420 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618199 S 4 0 1 "" CHM esv996760 5 5984072 5984072 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566171 S 3 1 0 "" HuRef esv1033694 5 5984202 5984202 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615108 S 2 1 0 "" HuRef esv1344614 5 6007918 6007918 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195381 S 2 1 0 "" HuRef nsv4693 5 6060705 6094716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3149 S 9 1 0 "" NA18555 nsv527995 5 6153526 6162928 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704520 S 2026 0 1 "" nsv822992 5 6233534 6234422 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429787 S 31 1 0 "" AK14 esv989406 5 6233847 6233907 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575981 S 3 0 1 "" HuRef esv1124892 5 6233870 6233931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058125 S 2 0 1 "" HuRef esv273682 5 6271064 6271400 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580110,essv2580329,essv2580045 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv269878 5 6271070 6271409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565671,essv2546427,essv2521173,essv2522883,essv2544159,essv2570807,essv2556768,essv2568365,essv2545609,essv2523249,essv2576585,essv2525417,essv2544265,essv2552191,essv2547232,essv2564576,essv2577802,essv2553895,essv2563964,essv2530758,essv2528538,essv2556911,essv2552561,essv2562772,essv2569513,essv2550212,essv2558893,essv2539184,essv2561391,essv2544913,essv2552772,essv2561140,essv2519809,essv2522065,essv2531167,essv2532571,essv2567403,essv2541859,essv2570018,essv2563725,essv2535811,essv2572568,essv2559180,essv2566810,essv2541905,essv2551067,essv2568911,essv2527830,essv2562402,essv2539506,essv2555741,essv2567008,essv2534433,essv2572172,essv2525556,essv2526976,essv2529789,essv2575650,essv2538539,essv2524241,essv2560908,essv2574798,essv2572871,essv2560369,essv2571127,essv2546007,essv2551547,essv2538142,essv2525047 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11829,NA11881,NA11894,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12154,NA12156,NA12414,NA12489,NA12717,NA12751,NA12761,NA12763,NA12828,NA12873,NA12891,NA18501,NA18502,NA18507,NA18508,NA18511,NA18516,NA18519,NA18523,NA18526,NA18542,NA18562,NA18566,NA18571,NA18573,NA18576,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18907,NA18909,NA18912,NA18945,NA18947,NA18959,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19129,NA19137,NA19138,NA19143,NA19190,NA19238,NA19239,NA19257 esv271147 5 6337497 6337836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517000,essv2515318,essv2514959,essv2515564,essv2518105,essv2517563,essv2516830,essv2517347 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12249,NA12812,NA12815,NA12872,NA12878,NA12892,NA18970 esv272390 5 6337504 6337833 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582031,essv2582701,essv2583150,essv2584095,essv2584399,essv2583305 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv527097 5 6342200 6353673 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703476 S 2026 1 0 "" nsv520627 5 6363014 6366383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697525 S 2026 0 1 FLJ33360 esv989624 5 6366906 6366906 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575364 S 3 1 0 FLJ33360 HuRef nsv327875 5 6366954 6366954 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346453 M 24 FLJ33360 esv1319853 5 6366986 6366986 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988603 S 2 1 0 FLJ33360 HuRef nsv523894 5 6368439 6378532 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699737 S 2026 0 1 FLJ33360 esv1026263 5 6374655 6374655 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081567 S 2 1 0 FLJ33360 HuRef esv29624 5 6423038 6424749 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14842 S 451 0 1 "" NA18505 nsv4694 5 6476626 6511880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3323 S 9 1 0 UBE2QL1 NA12878 nsv4695 5 6597111 6630576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv448 S 9 1 0 "" NA19240 nsv881385 5 6633584 6666146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543441 S 6533 0 1 LOC255167,NSUN2 MS16153 nsv880892 5 6662112 6761483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556739 S 6533 0 1 NSUN2,SRD5A1 MS22146 esv2503876 5 6669476 6670498 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364214 S 1 1 0 NSUN2 NA18507 nsv4696 5 6692137 6726770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3150 S 9 1 0 SRD5A1 NA18555 esv275079 5 6696886 6704241 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585169,essv2585535 M 1250 1 1 SRD5A1 nsv461922 5 6733115 6797798 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538237 S 1557 0 1 PAPD7 1780862093_A nsv822993 5 6742137 6807075 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435071 S 31 0 1 PAPD7 NA18942 nsv515717 5 6745053 6752224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659946,nssv667184,nssv660083,nssv705599,nssv664538,nssv672969,nssv661234,nssv658290,nssv671009 M 2026 0 9 "" nsv818309 5 6745053 6752224 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418064 S 112 0 1 "" NA10859 nsv822994 5 6754827 6819125 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425886 S 31 1 0 PAPD7 NA18968 nsv822995 5 6761149 6770328 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433637 S 31 1 0 PAPD7 NA18526 nsv822996 5 6764868 6768712 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432839 S 31 1 0 PAPD7 NA18972 esv23095 5 6765503 6768218 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9836 S 451 1 5 PAPD7 NA07037,NA07045,NA12414,NA12878,NA18907,NA19257 nsv830196 5 6792039 6942697 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444222 S 95 1 0 MIR4278,PAPD7 nsv880826 5 6812102 7487617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507369 S 6533 1 0 ADCY2,LOC442132,MIR4278,MIR4454 SP54543 nsv4697 5 6817323 6850873 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3324 S 9 1 0 "" NA12878 esv1549917 5 6827503 6827503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949517 S 2 1 0 "" HuRef esv273459 5 6844560 6844645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581262 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv881283 5 6859216 6895066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557863 S 6533 0 1 MIR4278 MS22959 nsv4699 5 6865171 6899089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3326 S 9 1 0 MIR4278 NA12878 nsv830197 5 6918519 7047795 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444224,nssv1444223 M 95 2 0 "" nsv819285 5 6921751 6922054 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418889 S 2 1 0 "" AK1 esv1422418 5 6921853 6921853 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595632 S 2 1 0 "" HuRef nsv4700 5 7013898 7034972 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8057 S 9 0 1 "" NA12156 nsv4701 5 7125927 7170886 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8058 S 9 0 1 "" NA12156 nsv881207 5 7128590 7687665 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512969 S 6533 1 0 ADCY2,LOC442132,MIR4454 SP55660 nsv4702 5 7155930 7186560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2506 S 9 1 0 "" NA18555 dgv1750e1 5 7188014 7256093 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1419,essv23291 M 271 0 0 "" NA12006 esv268355 5 7204602 7204941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519281,essv2517005,essv2519161,essv2513974,essv2518367,essv2519353,essv2513699 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11894,NA11931,NA19141,NA19143,NA19240 esv272940 5 7204602 7204941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581638 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1474882 5 7204639 7204639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173639 S 2 1 0 "" HuRef esv1004418 5 7215515 7221976 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565797 S 3 0 1 "" HuRef nsv517194 5 7222851 7255086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673423,nssv654907,nssv672020,nssv683009,nssv660657,nssv692009,nssv675586,nssv679257,nssv666220,nssv678018,nssv659093,nssv689632,nssv692320,nssv677387,nssv692680,nssv688508,nssv659057,nssv688726,nssv680682,nssv692639,nssv657461,nssv653985,nssv672090,nssv689104,nssv672667,nssv693728,nssv677484,nssv656341,nssv652259,nssv659929,nssv692365,nssv687094,nssv693680,nssv686666,nssv682211,nssv652326,nssv681231,nssv655951,nssv672715,nssv667666 M 2026 0 40 "" esv23221 5 7229867 7253482 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11408 S 451 0 2 "" NA12006,NA12414 nsv441937 5 7230342 7242924 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818310 5 7230740 7246206 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415751,nssv1415749 M 112 0 2 "" NA12865,NA12875 essv24620 5 7231622 7242925 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12875 esv2367860 5 7274748 7275464 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962876 S 1 0 1 "" NA18507 esv4534 5 7274805 7275379 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26975 S 1 0 1 Single Asian sample YH "" YH esv8701 5 7274925 7275260 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31142 S 1 0 1 "" SJK esv1260375 5 7274942 7275262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3607914 S 2 0 1 "" HuRef nsv509958 5 7280252 7286252 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618200,nssv623972,nssv622080 M 4 0 3 "" CHM,NA10860,NA18994 nsv881496 5 7281047 7349542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527363 S 6533 0 1 MIR4454 SP58387 nsv517195 5 7291212 7306529 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671196,nssv653987 M 2026 2 0 "" nsv4703 5 7306202 7333431 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4817,nssv3327 M 9 2 0 MIR4454 NA12878,NA19129 nsv509053 5 7311747 7324599 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623435,nssv619410 M 4 2 0 MIR4454 NA10860,NA18994 nsv510896 5 7311747 7349581 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618644,nssv621578 M 4 0 0 MIR4454 CHM,NA15510 esv1173154 5 7313719 7313771 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045388 S 2 0 1 "" HuRef nsv507228 5 7337016 7343016 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617660 S 4 1 0 "" CHM nsv830198 5 7393218 7564793 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444225 S 95 1 0 ADCY2 nsv527103 5 7409978 7420623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703483 S 2026 0 1 "" nsv513217 5 7424463 7425637 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626719 S 1 0 1 "" 1 nsv521728 5 7428754 7432003 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694488 S 2026 1 0 "" esv23386 5 7449023 7449945 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16030 S 451 0 3 ADCY2 NA07037,NA07045,NA12414 nsv517197 5 7458952 7531914 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689432,nssv671197,nssv653988,nssv658547 M 2026 4 0 ADCY2 nsv461926 5 7475768 7519743 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538238 S 1557 1 0 ADCY2 NINDS_14 esv272820 5 7532326 7532693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579325 S 7 1 0 Samples from several populations that are part of the HapMap project. ADCY2 NA19239 esv267668 5 7532342 7532682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493155,essv2506202,essv2505269,essv2506597,essv2498963,essv2509590,essv2511929,essv2498082 M 157 8 0 Samples from several populations that are part of the HapMap project. ADCY2 NA18504,NA18523,NA18853,NA19108,NA19114,NA19129,NA19238,NA19240 esv22556 5 7614828 7615288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18709 S 451 0 2 ADCY2 NA12004,NA12287 esv8296 5 7663848 7663918 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30737 S 1 1 0 ADCY2 SJK nsv4704 5 7681329 7715714 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2683 S 9 1 0 ADCY2 NA18555 nsv327244 5 7746550 7752194 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345822 M 24 ADCY2 esv2638984 5 7794187 7795269 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293999 S 1 1 0 ADCY2 NA18507 esv26647 5 7889944 7893867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18015 S 451 0 1 C5orf49 NA19147 esv273206 5 7898987 7899181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580088,essv2579914,essv2580820,essv2579205,essv2579506 M 7 5 0 Samples from several populations that are part of the HapMap project. C5orf49 NA12878,NA12892,NA19238,NA19239,NA19240 esv272060 5 7899017 7899355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514590,essv2516687,essv2517387,essv2518717,essv2514854,essv2515383,essv2518565,essv2518014,essv2515867,essv2514211,essv2517213,essv2515256,essv2519455 M 157 13 0 Samples from several populations that are part of the HapMap project. C5orf49 NA07346,NA11840,NA11881,NA11918,NA12045,NA12234,NA12249,NA12287,NA12872,NA12873,NA12874,NA18970,NA19238 esv274651 5 7917860 7918223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580658 S 7 1 0 Samples from several populations that are part of the HapMap project. FASTKD3 NA19238 esv268361 5 7917904 7918251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511758,essv2496529,essv2501210,essv2494639,essv2500907,essv2493975,essv2501377,essv2504624,essv2512128,essv2502164 M 157 10 0 Samples from several populations that are part of the HapMap project. FASTKD3 NA18499,NA18510,NA18516,NA18519,NA18856,NA18871,NA19093,NA19099,NA19238,NA19257 dgv334n21 5 7940109 7949511 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518862,nsv525097 M 2026 2 0 MTRR nsv508345 5 7943892 7986471 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622518 S 4 0 1 MTRR NA18994 nsv4705 5 7948186 7980395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7145 S 9 1 0 MTRR NA12156 nsv507229 5 7969535 7975535 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620280 S 4 1 0 "" NA15510 nsv514288 5 7970042 7972114 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627730 S 1414 0 1 "" nsv499274 5 7970046 7973559 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585945 S 9 0 1 "" esv29338 5 7970069 7973516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11493 S 451 0 1 "" NA12287 nsv4706 5 7970701 8009246 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8059 S 9 0 1 "" NA12156 esv22489 5 8066215 8077076 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13976,esv9808,esv17801,esv11563 M 451 13 0 "" NA07045,NA11931,NA11995,NA12239,NA12749,NA18502,NA18505,NA18517,NA18907,NA18909,NA19099,NA19108,NA19129 esv1098102 5 8068751 8068751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672312 S 2 1 0 "" HuRef esv268609 5 8103867 8104203 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500865,essv2499344,essv2502867,essv2493336,essv2500094,essv2508436,essv2504931,essv2497946,essv2495220,essv2511494 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11994,NA12156,NA12776,NA18573,NA18582,NA18942,NA18945,NA18964 esv267988 5 8110842 8110927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513783 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv881419 5 8130509 8255536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584196 S 6533 1 0 "" IS36899 esv998820 5 8134266 8134321 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578272 S 3 0 1 "" HuRef nsv327266 5 8134266 8134321 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345844 M 24 "" esv2182651 5 8171696 8172128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587868 S 1 0 1 "" NA18507 esv2475842 5 8186772 8188207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349853 S 1 0 1 "" NA18507 dgv5931n71 5 8208254 8284744 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880948,nsv880325 M 6533 3 0 "" IS32518,IS36173,IS37993 esv25597 5 8267057 8268449 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13080 S 451 1 0 "" NA19257 nsv508346 5 8302498 8328350 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617507 S 4 0 1 "" CHM esv28801 5 8308770 8313730 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18467 S 451 0 2 "" NA12004,NA12239 nsv517133 5 8312322 8313550 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680278,nssv680414,nssv683108,nssv670327,nssv653837,nssv691196,nssv665154,nssv680326,nssv665104,nssv665345,nssv678250 M 2026 0 11 "" esv28055 5 8325604 8329725 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10495 S 451 0 1 "" NA11894 nsv881317 5 8356435 8392949 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555804 S 6533 1 0 LOC729506 MS21626 nsv822997 5 8370384 8371387 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424192 S 31 1 0 "" NA18582 esv268959 5 8393969 8394309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519052,essv2513768 M 157 2 0 Samples from several populations that are part of the HapMap project. LOC729506 NA19141,NA19143 nsv881034 5 8429813 8552567 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504537 S 6533 1 0 LOC100505738,LOC729506,MIR4458 SP52582 nsv526754 5 8492356 8493728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703101 S 2026 0 1 LOC729506 nsv880933 5 8520174 8741962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596291,nssv1597748,nssv1596703,nssv1599941,nssv1585539 M 6533 0 5 "" IS37520,IS40487,IS40618,IS41171,IS41818 nsv461929 5 8520900 8717747 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538239 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01297 nsv470987 5 8520900 8733327 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545077 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01297 esv1008647 5 8522865 8524677 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565435 S 3 1 0 "" HuRef nsv461930 5 8580086 8592813 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538240 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00958 esv259936 5 8596431 8596731 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395587,essv2397700,essv2398232,essv2398299,essv2398007 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18909,NA19093,NA19147 nsv329342 5 8596617 8596617 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347920 M 24 "" nsv520306 5 8648305 8650846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672575,nssv679960,nssv662705 M 2026 0 3 "" nsv881428 5 8750444 8768139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529411 S 6533 0 1 "" SP81534 nsv881307 5 8750444 8771172 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519768 S 6533 1 0 "" SP50544 dgv108n17 5 8752765 8802282 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436977,nsv436978,nsv436979 M 60 0 3 "" NA10847,NA12802,NA12865 nsv461931 5 8753487 8823185 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538241 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00007 nsv10663 5 8753828 8802424 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12160,nssv12305 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA12802 dgv1751e1 5 8754920 8843546 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23754,esv963,essv24214,essv25109,essv24455,essv22689,essv19831 M 271 0 0 "" NA10847,NA11994,NA12004,NA12144,NA12814,NA12865 nsv516885 5 8755372 8800106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694039,nssv675435,nssv657117,nssv680023,nssv679765,nssv688871,nssv670596,nssv668739,nssv670404,nssv685799,nssv676621,nssv674009,nssv662991,nssv678260,nssv677662,nssv682243,nssv685075,nssv682032,nssv691948,nssv676668,nssv660153,nssv668885,nssv677647,nssv653470,nssv669780,nssv691171,nssv668705,nssv658478,nssv675529,nssv671899,nssv658919,nssv663738,nssv657483,nssv661524,nssv664834,nssv667034,nssv667778,nssv688089,nssv676943,nssv667073,nssv690460,nssv689469,nssv670441,nssv660163,nssv654392,nssv685404,nssv669222,nssv691237,nssv658695,nssv686920,nssv705357,nssv660499,nssv666858,nssv668961,nssv660524,nssv675420,nssv663837,nssv659947,nssv681919,nssv666137,nssv688013,nssv658531,nssv680196 M 2026 0 63 "" dgv5932n71 5 8755372 8810690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880929,nsv880842,nsv881507 M 6533 0 8 "" IS30210,IS32841,IS38378,IS38754,IS40471,IS40473,IS41860,MS18799 dgv688n27 5 8755372 8811041 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461935,nsv461940,nsv461932,nsv461937,nsv461933,nsv461941,nsv461942,nsv461936,nsv461938 M 1557 0 9 "" 1780854558_A,1780862071_A,1788485381_A,1798860306_A,HGDP00515,HGDP01273,NINDS_132,NINDS_202,NINDS_96 esv2421584 5 8755522 8800142 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051520,essv5127781,essv5076233,essv5157714,essv5107486,essv5152355,essv5091323,essv5096813,essv5038899,essv5047589,essv5122595,essv5044324,essv5143743,essv5152230,essv5029640,essv5036403,essv5059536,essv5009067,essv5133280 M 1184 0 19 "" NA06989,NA07346,NA07349,NA10847,NA10861,NA11994,NA12144,NA12239,NA12716,NA12802,NA12814,NA12865,NA12875,NA20504,NA20586,NA20771,NA20772,NA20852,NA20872 dgv1752e1 5 8755522 8805756 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22728,essv20685,essv20519,essv24616,essv21742 M 271 0 0 "" NA10861,NA12239,NA12716,NA12802,NA12875 nsv442935 5 8755523 8800138 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv25134 5 8755908 8801681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12367 S 451 0 3 "" NA12004,NA12239,NA12414 nsv514289 5 8755972 8799967 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627731 S 1414 0 1 "" nsv461934 5 8756148 8779235 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538244 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01304 nsv818312 5 8756148 8800106 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418367,nssv1415753,nssv1418368,nssv1415752,nssv1415897,nssv1415896 M 112 0 6 "" NA10847,NA10861,NA11994,NA12239,NA12865,NA12875 esv32808 5 8758764 8800030 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96941,essv96698,essv100008 M 51 1 2 "" 21817,22011,22086 nsv461943 5 8772378 8800106 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538252 S 1557 0 1 "" 1780862419_A nsv820126 5 8774360 8776020 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419301 S 2 1 0 "" AK1 nsv881438 5 8781874 9748667 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559079 S 6533 1 0 LOC285692,MIR4636,SEMA5A,SNORD123,TAS2R1 MS23709 esv271593 5 8802486 8804298 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565813,essv2542579,essv2522936,essv2556687,essv2568071,essv2545324,essv2577401,essv2570725,essv2548288,essv2521880,essv2550515,essv2535319,essv2544261,essv2520651,essv2547163,essv2564614,essv2577819,essv2553597,essv2537534,essv2528528,essv2546869,essv2549975,essv2544823,essv2562891,essv2552849,essv2538212,essv2542814,essv2540378,essv2524491,essv2534517,essv2561224,essv2549240,essv2519883,essv2522069,essv2566087,essv2532831,essv2567664,essv2528944,essv2567562,essv2541474,essv2570232,essv2563665,essv2559138,essv2533520,essv2555604,essv2567228,essv2529881,essv2573812,essv2557752,essv2556097,essv2522596,essv2531602,essv2573510,essv2543288,essv2530278,essv2571204,essv2574251,essv2536349,essv2548787,essv2533096,essv2563507 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA10847,NA11829,NA11919,NA11931,NA11994,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12155,NA12249,NA12414,NA12716,NA12717,NA12751,NA12761,NA12763,NA12878,NA12891,NA12892,NA18511,NA18526,NA18532,NA18542,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18638,NA18944,NA18945,NA18947,NA18949,NA18951,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA19141,NA19238,NA19240 esv272321 5 8802488 8804255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581825,essv2582531,essv2582907,essv2584322,essv2583491 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv22300 5 8828955 8833362 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12734 S 451 1 0 "" NA19257 nsv830199 5 8908056 9077096 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444226 S 95 0 1 "" nsv513218 5 8990800 8991924 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626720 S 1 0 1 "" 1 dgv5933n71 5 9014561 9094935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880848,nsv881150 M 6533 0 4 SEMA5A IS30322,IS31317,IS38352,IS41949 nsv830200 5 9134023 9322495 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444227 S 95 0 1 SEMA5A nsv880683 5 9144164 9223323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554442 S 6533 0 1 SEMA5A MS20813 dgv5934n71 5 9153211 9210454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880323,nsv881682 M 6533 0 3 SEMA5A IS38390,IS40902,MS22705 esv994899 5 9169741 9177959 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565397 S 3 0 1 SEMA5A HuRef nsv4707 5 9177819 9190589 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8061 S 9 0 1 SEMA5A NA12156 nsv4708 5 9298266 9343172 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8062 S 9 0 1 SEMA5A NA12156 nsv519704 5 9396913 9396999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676762,nssv657671 M 2026 0 2 SEMA5A esv1558495 5 9406270 9406270 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941944 S 2 1 0 SEMA5A HuRef esv1762654 5 9406350 9406432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142922 S 2 0 1 SEMA5A HuRef nsv523773 5 9410942 9411953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699595 S 2026 0 1 SEMA5A nsv4710 5 9418666 9451750 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4818 S 9 1 0 SEMA5A NA19129 esv2490802 5 9452725 9454308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223642 S 1 0 1 SEMA5A NA18507 dgv28e194 5 9453417 9454088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2232442,esv2310311 M 1 0 1 SEMA5A NA18507 esv4882 5 9453556 9453961 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27323 S 1 0 1 Single Asian sample YH SEMA5A YH esv2429188 5 9453611 9453880 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232736 S 1 0 1 SEMA5A NA18507 nsv328306 5 9453611 9453880 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346884 M 24 SEMA5A esv6240 5 9453612 9453886 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28681 S 1 0 1 SEMA5A SJK esv987627 5 9453615 9453881 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576938 S 3 0 1 SEMA5A HuRef esv1400888 5 9453619 9453889 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845505 S 2 0 1 SEMA5A HuRef nsv330056 5 9455604 9455604 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348634 M 24 SEMA5A esv2592018 5 9464205 9465480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207698 S 1 0 1 SEMA5A NA18507 esv2017706 5 9464586 9465271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692476 S 1 0 1 SEMA5A NA18507 esv5211 5 9464682 9465156 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27652 S 1 0 1 Single Asian sample YH SEMA5A YH nsv328692 5 9464761 9465074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347270 M 24 SEMA5A esv1002666 5 9464770 9465083 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567456 S 3 0 1 SEMA5A HuRef esv9146 5 9464773 9465074 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31587 S 1 0 1 SEMA5A SJK esv1376619 5 9464774 9465088 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790917 S 2 0 1 SEMA5A HuRef nsv509959 5 9488200 9494200 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622081 S 4 0 1 SEMA5A NA10860 esv22711 5 9598673 9599476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20473 S 451 0 1 SEMA5A NA12414 nsv881586 5 9602386 9631794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551950,nssv1552921,nssv1534842,nssv1533665 M 6533 0 4 "" MS11257,MS11741,MS19035,MS19645 esv269803 5 9606662 9607023 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495849,essv2503960,essv2513048 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA12489 nsv519747 5 9627755 9628041 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697029 S 2026 0 1 "" esv267760 5 9680421 9680678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505368,essv2506465,essv2502095 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA19108,NA19257 nsv528968 5 9720062 9727736 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705667 S 2026 1 0 LOC285692 nsv4711 5 9810391 9842920 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10437 S 9 1 0 LOC285692 NA18956 esv2422451 5 9811100 9848587 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161294 S 181 0 1 LOC285692 ND01570 dgv1753e1 5 9850992 10044066 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24479,esv778 M 271 0 0 LOC285692 NA12056 nsv10664 5 9872148 9888645 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15330 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC285692 NA19221 nsv880394 5 9874723 9905860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557864 S 6533 0 1 LOC285692 MS22959 esv5783 5 9885430 9885515 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28224 S 1 1 0 LOC285692 SJK nsv4712 5 9932144 9976920 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8063 S 9 0 1 LOC285692 NA12156 dgv689n27 5 9949163 9986220 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461967,nsv461945,nsv461968,nsv461969,nsv461970 M 1557 0 5 LOC285692 1780862015_A,1780862516_A,HGDP00620,HGDP00667,NINDS_203 essv18672 5 9950967 10008044 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC285692 NA12056 dgv690n27 5 9951962 9977497 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461956,nsv461958,nsv461947,nsv461961,nsv461954,nsv461959,nsv461952,nsv461960,nsv461966,nsv461955,nsv461953,nsv461963,nsv461964,nsv461949,nsv461957,nsv461948,nsv461965 M 1557 0 17 LOC285692 1780854464_A,1798860210_A,HGDP00041,HGDP00092,HGDP00206,HGDP00513,HGDP00522,HGDP00558,HGDP00564,HGDP00607,HGDP00626,HGDP00632,HGDP00643,HGDP00886,HGDP01244,HGDP01265,NINDS_29 dgv5935n71 5 9951962 9985210 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881218,nsv880320,nsv881325,nsv881673 M 6533 0 104 LOC285692 IS30111,IS30213,IS30276,IS30473,IS30493,IS30635,IS30763,IS30814,IS31133,IS31213,IS31558,IS31570,IS31766,IS32015,IS32306,IS32523,IS32533,IS32810,IS33162,IS33587,IS33636,IS33651,IS33726,IS33797,IS33839,IS34134,IS34262,IS34289,IS34397,IS34458,IS34515,IS34649,IS34680,IS34830,IS34837,IS35138,IS35145,IS35300,IS35331,IS35385,IS35691,IS35895,IS35952,IS36273,IS36442,IS36475,IS36521,IS37207,IS37329,IS37348,IS37446,IS37456,IS37573,IS37609,IS37874,IS37888,IS37909,IS37996,IS38012,IS38129,IS38131,IS38142,IS38184,IS38225,IS38352,IS38390,IS38394,IS38399,IS38477,IS38577,IS38603,IS38804,IS39254,IS39330,IS39532,IS39780,IS39785,IS39971,IS39999,IS40055,IS40111,IS40318,IS40342,IS40349,IS40872,IS40930,IS40956,IS41308,IS41786,IS41830,IS41831,IS41883,IS41934,IS41944,MS10203,MS10282,MS12895,MS13561,MS13759,MS18104,MS19645,MS22998,MS24600,MS25308 nsv818313 5 9955340 9977172 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416238 S 112 0 1 LOC285692 NA12056 nsv470988 5 9955340 9981862 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545081,nssv545079,nssv545090,nssv545088,nssv545084,nssv545082,nssv545086,nssv545080,nssv545085,nssv545089,nssv545083,nssv545078 M 443 0 12 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC285692 HGDP00558,HGDP00564,HGDP00607,HGDP00617,HGDP00620,HGDP00626,HGDP00632,HGDP00643,HGDP00701,HGDP01258,HGDP01265,HGDP01397 nsv517239 5 9955340 9985210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658031,nssv673954,nssv666164,nssv692321,nssv668518,nssv687163,nssv658899,nssv655457,nssv683420,nssv657118,nssv657148,nssv652124,nssv663804,nssv658055,nssv653263,nssv689633,nssv679156,nssv680824,nssv688090,nssv705205,nssv684770,nssv678019,nssv662825,nssv651706,nssv652638,nssv682968,nssv672938,nssv668763,nssv655996,nssv681979,nssv654107,nssv672875,nssv693612,nssv657642 M 2026 0 34 LOC285692 nsv461971 5 9958783 9972695 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538278 S 1557 0 1 "" 1780862088_A esv1306809 5 9967948 9968109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086645 S 2 0 1 "" HuRef nsv461972 5 9968399 9977497 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538279 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00017 esv988214 5 10022459 10024824 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564855 S 3 1 0 "" HuRef esv1041078 5 10023853 10023853 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094073 S 2 1 0 "" HuRef esv32536 5 10033433 10038721 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97196 S 51 0 1 "" 22075 esv33231 5 10038721 10325709 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99523 S 51 0 1 CCT5,FAM173B 22335 esv3459 5 10042913 10043415 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25900 S 1 0 1 Single Asian sample YH "" YH esv1932815 5 10042924 10043493 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602772 S 1 0 1 "" NA18507 esv7763 5 10043098 10043324 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30204 S 1 0 1 "" SJK esv990575 5 10043099 10043311 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582733 S 3 0 1 "" HuRef esv1109938 5 10043099 10043312 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658825 S 2 0 1 "" HuRef esv8076 5 10058276 10058599 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30517 S 1 0 1 "" SJK esv1264464 5 10058278 10058579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354299 S 2 0 1 "" HuRef nsv830201 5 10100162 10303361 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444228 S 95 1 0 CCT5,FAM173B nsv525142 5 10120090 10157968 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701212 S 2026 1 0 "" nsv527558 5 10125247 10140511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704019 S 2026 1 0 "" esv274339 5 10151824 10152145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578920 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv528357 5 10180437 10193391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704942 S 2026 0 1 "" nsv881429 5 10194350 10342503 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542049 S 6533 1 0 CCT5,CMBL,FAM173B MS15610 esv268885 5 10197543 10197734 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496691,essv2511164,essv2499370,essv2499446,essv2495345,essv2495908,essv2493403,essv2496339,essv2506249,essv2505931,essv2495615,essv2497913,essv2493060,essv2495112,essv2505620,essv2506547,essv2499756,essv2503922,essv2511486 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA11894,NA11931,NA11994,NA12044,NA12287,NA12489,NA12776,NA18510,NA18523,NA18861,NA18916,NA18945,NA18951,NA18964,NA19005,NA19108,NA19225 esv273991 5 10254708 10255299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580560,essv2579308,essv2579508 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv880633 5 10272547 10301572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512509 S 6533 0 1 FAM173B SP55548 nsv525565 5 10279025 10283956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701704 S 2026 0 1 FAM173B nsv461975 5 10290036 10315158 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538280 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CCT5,FAM173B HGDP01383 esv987994 5 10324196 10329000 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564332 S 3 0 1 "" HuRef esv22427 5 10326006 10327951 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10097,esv19183 M 451 26 0 "" NA07037,NA07045,NA11894,NA11993,NA12006,NA12156,NA12287,NA12749,NA12828,NA15510,NA18502,NA18505,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv820455 5 10326006 10327951 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420499 S 1 0 1 "" NA10851 nsv513219 5 10326195 10328555 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626722 S 1 0 1 "" 1 esv992376 5 10326427 10328270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568347 S 3 0 1 "" HuRef nsv511277 5 10326607 10327815 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624977 S 1 0 1 "" 1 esv1536341 5 10326613 10328457 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806333 S 2 0 1 "" HuRef nsv822999 5 10326896 10327880 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432840,nssv1421693,nssv1432039,nssv1437429 M 31 1 3 "" AK20,NA18949,NA18972,NA18997 esv33079 5 10327118 10327640 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98736,essv93859,essv98193,essv97808,essv97394,essv101762,essv99091,essv93681,essv98052,essv96550,essv97620,essv99534,essv98405 M 51 2 11 "" 21606,21634,21772,21837,21879,21909,21938,21972,22259,22261,22278,22335,22352 esv32585 5 10330798 10332458 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100047 S 51 0 1 CMBL 22086 nsv823000 5 10335341 10336341 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441050 S 31 1 0 CMBL NA18969 esv1682912 5 10399459 10399537 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917082 S 2 0 1 "" HuRef nsv880520 5 10405123 11869934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539395 S 6533 1 0 ANKRD33B,CTNND2,DAP,MARCH6,ROPN1L MS14318 nsv880973 5 10425618 10545095 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582660 S 6533 1 0 MARCH6,ROPN1L IS36071 nsv4713 5 10426328 10471073 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8064 S 9 0 1 MARCH6 NA12156 esv273891 5 10475796 10476035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579154,essv2579793 M 7 2 0 Samples from several populations that are part of the HapMap project. MARCH6 NA19239,NA19240 esv271970 5 10475799 10476168 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511887,essv2504168,essv2494984,essv2505357,essv2501037,essv2498577,essv2493981,essv2513492,essv2507391,essv2503681,essv2504824,essv2506861,essv2498956,essv2497591,essv2496953,essv2499733,essv2501882,essv2502029 M 157 18 0 Samples from several populations that are part of the HapMap project. MARCH6 NA18499,NA18505,NA18520,NA18853,NA18856,NA18858,NA18871,NA18907,NA18912,NA18960,NA19099,NA19102,NA19114,NA19147,NA19190,NA19225,NA19239,NA19257 esv990013 5 10508893 10508893 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570400 S 3 1 0 ROPN1L HuRef esv1398505 5 10508917 10508917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834183 S 2 1 0 ROPN1L HuRef nsv329900 5 10508985 10508985 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348478 M 24 ROPN1L nsv4714 5 10578854 10613189 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3328 S 9 1 0 "" NA12878 nsv436468 5 10579475 10585535 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466199 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv21947 5 10580384 10585113 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10889 S 451 0 1 "" NA18505 nsv441938 5 10580501 10584996 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv526912 5 10589845 10590351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703273 S 2026 0 1 "" esv271503 5 10590214 10590538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557309,essv2558750,essv2550981,essv2543533,essv2562433,essv2529728,essv2575718,essv2572774,essv2551580 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18516,NA18858,NA18870,NA18909,NA19093,NA19099,NA19143,NA19257 esv27558 5 10615851 10618401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20127,esv10938 M 451 0 2 ANKRD33B NA07045,NA12414 nsv513220 5 10627130 10630577 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626723 S 1 0 1 ANKRD33B 1 esv2570309 5 10627430 10628874 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297721 S 1 0 1 ANKRD33B NA18507 esv2302807 5 10627801 10628455 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552326 S 1 0 1 ANKRD33B NA18507 esv5923 5 10627904 10628390 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28364 S 1 0 1 ANKRD33B SJK nsv329316 5 10627957 10628292 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347894 M 24 ANKRD33B nsv507230 5 10641861 10647861 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617661 S 4 1 0 ANKRD33B CHM esv268690 5 10687958 10688304 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516820,essv2514127,essv2517214,essv2513624 M 157 4 0 Samples from several populations that are part of the HapMap project. ANKRD33B NA07347,NA11881,NA12043,NA18970 nsv511306 5 10691180 10702378 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625299 S 1 0 1 ANKRD33B 1 esv2429278 5 10691758 10693785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180909 S 1 0 1 ANKRD33B NA18507 esv29091 5 10691792 10693693 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20406,esv14373 M 451 32 1 ANKRD33B NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 esv5335 5 10691913 10693309 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27776 S 1 0 1 Single Asian sample YH ANKRD33B YH nsv513221 5 10691940 10693228 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626724 S 1 0 1 ANKRD33B 1 esv1001828 5 10692032 10693182 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586448 S 3 1 0 ANKRD33B HuRef nsv329565 5 10692098 10693244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348143 M 24 ANKRD33B esv25753 5 10702351 10703331 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17127 S 451 0 2 ANKRD33B NA07037,NA12414 esv24449 5 10734175 10735755 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15187 S 451 0 1 DAP NA12044 esv23832 5 10743562 10744133 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20947 S 451 1 0 DAP NA19108 nsv521304 5 10763716 10780639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697910 S 2026 0 1 DAP nsv518038 5 10779281 11291622 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695449 S 2026 1 0 CTNND2,DAP esv2464339 5 10808460 10809959 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203858 S 1 0 1 DAP NA18507 esv2312126 5 10809038 10809697 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543460 S 1 0 1 DAP NA18507 nsv819968 5 10809139 10809662 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418982 S 2 0 1 DAP AK1 esv22939 5 10813952 10814943 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18998 S 451 0 3 DAP NA07037,NA07045,NA12414 esv1008959 5 10816162 10825174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565429 S 3 0 1 "" HuRef nsv469820 5 10824336 10974776 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649841 M 265 0 6 Samples from several populations that are part of the HapMap project. "" nsv509960 5 10828566 10834566 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618201 S 4 0 1 "" CHM esv33479 5 10903203 10903519 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94839,essv94420,essv97888,essv92970,essv93417,essv96271 M 51 0 6 "" 21791,21808,21837,21939,22128,22371 esv32730 5 10925852 10927832 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100696 S 51 0 1 "" 21656 nsv523269 5 10959464 10963739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699003 S 2026 1 0 "" nsv528640 5 10959464 10969699 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705271 S 2026 1 0 "" esv997041 5 10996169 11002724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563678 S 3 0 1 "" HuRef nsv524593 5 11020299 11021872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700552 S 2026 0 1 "" nsv830202 5 11056280 11229454 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444230 S 95 1 0 CTNND2 esv7282 5 11173513 11173781 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29723 S 1 0 1 CTNND2 SJK esv1539730 5 11173792 11173792 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791410 S 2 1 0 CTNND2 HuRef nsv819140 5 11178059 11178886 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419095 S 2 1 0 CTNND2 AK1 nsv818314 5 11181377 11187772 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417464 S 112 0 1 CTNND2 NA18960 nsv441939 5 11181478 11184110 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CTNND2 nsv823001 5 11181534 11188172 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434409 S 31 0 1 CTNND2 NA18570 nsv327919 5 11181945 11182219 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346497 M 24 CTNND2 nsv328573 5 11182111 11182219 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347151 M 24 CTNND2 esv2548561 5 11196864 11197450 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247757 S 1 1 0 CTNND2 NA18507 esv27150 5 11200104 11201545 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17482 S 451 2 0 CTNND2 NA18909,NA19108 esv275312 5 11214625 11220277 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585607 S 1250 0 1 CTNND2 esv269035 5 11215820 11216124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511049,essv2508083,essv2513022,essv2504504,essv2508442,essv2511650,essv2504950,essv2497950,essv2502397,essv2505662 M 157 10 0 Samples from several populations that are part of the HapMap project. CTNND2 NA11831,NA12045,NA18547,NA18563,NA18582,NA18940,NA18942,NA18945,NA18948,NA19005 dgv5936n71 5 11217361 11232193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880873,nsv881549,nsv880413,nsv880720 M 6533 0 27 CTNND2 IS33243,IS33345,IS33871,IS36396,IS36772,IS37404,IS38166,IS38572,IS39102,IS39394,IS40326,IS40673,IS40680,IS40815,IS40819,IS40849,IS41758,IS41887,MS12615,MS17275,MS17665,MS21721,MS22177,MS23871,MS24350,MS24692,MS25765 nsv521357 5 11219948 11228485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694436 S 2026 0 1 CTNND2 nsv461976 5 11219948 11230065 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538281 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTNND2 HGDP00239 nsv880276 5 11219948 11230065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577084 S 6533 0 1 CTNND2 IS34356 nsv522498 5 11222861 11223145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705866 S 2026 0 1 CTNND2 nsv515616 5 11225736 11227047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665784,nssv654712,nssv664113 M 2026 0 3 CTNND2 nsv519562 5 11233596 11239685 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696922 S 2026 0 1 CTNND2 esv259601 5 11338880 11339142 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394200,essv2393924 M 6 0 0 Samples from several populations that are part of the HapMap project. CTNND2 NA12878,NA12891 nsv327742 5 11339055 11339055 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346320 M 24 CTNND2 esv25983 5 11362884 11365983 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13376 S 451 0 1 CTNND2 NA12414 esv1474334 5 11364394 11364394 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069771 S 2 1 0 CTNND2 HuRef esv2453497 5 11391231 11392802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239238 S 1 0 1 CTNND2 NA18507 esv2161141 5 11391853 11392567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998306 S 1 0 1 CTNND2 NA18507 esv996886 5 11391901 11392525 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564480 S 3 0 1 CTNND2 HuRef esv4317 5 11391957 11392474 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26758 S 1 0 1 Single Asian sample YH CTNND2 YH esv996577 5 11392028 11392346 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585618 S 3 0 1 CTNND2 HuRef esv6986 5 11392036 11392314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29427 S 1 0 1 CTNND2 SJK esv1023282 5 11392042 11392366 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351161 S 2 0 1 CTNND2 HuRef nsv830205 5 11393262 11577739 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444231 S 95 1 0 CTNND2 nsv881624 5 11393507 11421864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599377 S 6533 0 1 CTNND2 IS41634 esv7916 5 11424156 11424263 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30357 S 1 1 0 CTNND2 SJK esv29160 5 11437681 11438476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9762 S 451 0 2 CTNND2 NA07045,NA12414 esv274133 5 11444234 11444562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580103,essv2580438,essv2580022,essv2580850 M 7 4 0 Samples from several populations that are part of the HapMap project. CTNND2 NA12878,NA12891,NA12892,NA19238 esv270908 5 11444235 11444573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500862,essv2510962,essv2503203,essv2495425,essv2505083,essv2507953,essv2502333,essv2508048,essv2502903,essv2513196,essv2510314,essv2495895,essv2508495,essv2502533,essv2503853,essv2493487,essv2504998,essv2509683,essv2496316,essv2494741,essv2494973,essv2509116,essv2506266,essv2508770,essv2494618,essv2508329,essv2507621,essv2508112,essv2507466,essv2505263,essv2494006,essv2502373,essv2497439,essv2500736,essv2504774,essv2499671,essv2512018,essv2501962,essv2498006,essv2503939 M 157 40 0 Samples from several populations that are part of the HapMap project. CTNND2 NA07037,NA11830,NA11831,NA11881,NA11919,NA11995,NA12003,NA12004,NA12045,NA12156,NA12249,NA12414,NA12489,NA12717,NA12750,NA12761,NA12763,NA12828,NA18508,NA18511,NA18519,NA18520,NA18522,NA18523,NA18532,NA18550,NA18561,NA18576,NA18579,NA18638,NA18853,NA18871,NA18948,NA18959,NA18973,NA19099,NA19225,NA19238,NA19239,NA19240 nsv880622 5 11493630 11544991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564020,nssv1578506 M 6533 0 2 CTNND2 IS30146,IS34797 nsv528520 5 11582293 11592795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705130 S 2026 0 1 CTNND2 nsv428462 5 11664503 11863383 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450328,nssv450330,nssv450329 M 62 0 3 CTNND2 HGDP00449,HGDP00467,HGDP00476 nsv523245 5 11697503 11699533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698974 S 2026 0 1 CTNND2 nsv818315 5 11697503 11730173 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415640 S 112 0 1 CTNND2 NA12248 nsv4715 5 11724825 11735445 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8065 S 9 0 1 CTNND2 NA12156 nsv524275 5 11769407 11776822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700173 S 2026 0 1 CTNND2 nsv525891 5 11796161 11810020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702094 S 2026 0 1 CTNND2 esv7810 5 11836256 11836400 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30251 S 1 0 0 CTNND2 SJK nsv513222 5 11869688 11870607 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626725 S 1 0 1 CTNND2 1 esv1034832 5 11869775 11870318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662975 S 2 0 1 CTNND2 HuRef esv1436814 5 11932454 11932454 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638213 S 2 1 0 CTNND2 HuRef esv2560131 5 11932951 11934493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193233 S 1 0 1 CTNND2 NA18507 esv1056345 5 11933724 11933852 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717752 S 2 0 1 CTNND2 HuRef nsv823002 5 11954728 11959888 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432842 S 31 1 0 CTNND2 NA18972 esv22991 5 11956847 11957592 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19279 S 451 0 3 CTNND2 NA07045,NA12414,NA19257 dgv5937n71 5 12075698 12166211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881537,nsv880532 M 6533 0 2 "" IS39450,SP58537 dgv1754e1 5 12087304 12261440 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6830,esv177 M 271 0 0 "" NA18579 esv1517719 5 12090490 12090570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007445 S 2 0 1 "" HuRef esv21534 5 12109625 12111012 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19643 S 451 0 1 "" NA12828 esv1328334 5 12110196 12110388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233140 S 2 0 1 "" HuRef esv4624 5 12124362 12124599 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27065 S 1 0 1 Single Asian sample YH "" YH nsv470989 5 12163214 12341541 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545091 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00549 dgv5938n71 5 12181980 12341541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880440,nsv881603 M 6533 0 2 "" IS30531,MS17114 dgv5939n71 5 12185401 12391203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880364,nsv880704 M 6533 0 2 "" IS33545,SP52951 nsv522521 5 12216379 12227985 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705891 S 2026 1 0 "" esv2458697 5 12238644 12240096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334797 S 1 0 1 "" NA18507 esv1977324 5 12239306 12239987 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762792 S 1 0 1 "" NA18507 esv4196 5 12239442 12239849 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26637 S 1 0 1 Single Asian sample YH "" YH esv7987 5 12239470 12239787 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30428 S 1 0 1 "" SJK dgv335n21 5 12314596 12363717 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527153,nsv520904 M 2026 0 2 "" nsv823003 5 12345976 12346650 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424193 S 31 1 0 "" NA18582 nsv4716 5 12387952 12432645 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8066 S 9 0 1 "" NA12156 dgv5940n71 5 12413373 12974838 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880509,nsv880760 M 6533 0 2 TAG IS41881,MS13317 nsv520673 5 12442751 12786263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697550 S 2026 0 1 TAG esv9557 5 12446799 12446856 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31998 S 1 1 0 "" SJK nsv880686 5 12454130 12534763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597868 S 6533 0 1 "" IS41317 nsv881683 5 12454130 12594675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582457 S 6533 0 1 "" IS35963 nsv513223 5 12477939 12481245 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626726 S 1 0 1 "" 1 esv2513100 5 12478666 12480525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322077 S 1 0 1 "" NA18507 esv29478 5 12480290 12481975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11931,esv15402 M 451 0 4 "" NA18505,NA18858,NA18909,NA19257 nsv329313 5 12488663 12488739 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347891 M 24 "" nsv880779 5 12518904 12578748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570374 S 6533 0 1 "" IS31915 nsv507231 5 12523281 12529281 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620281,nssv622924,nssv621777 M 4 3 0 "" NA10860,NA15510,NA18994 nsv881461 5 12560398 12628182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553658 S 6533 0 1 TAG MS20237 dgv5941n71 5 12563848 12857565 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881369,nsv881084,nsv880533,nsv880638,nsv880994 M 6533 0 5 TAG IS31729,IS39718,MS11467,MS12938,MS17114 dgv5942n71 5 12580430 12750079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881078,nsv881678 M 6533 0 2 TAG IS31758,IS32150 nsv428463 5 12589206 12800819 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450334 S 62 0 1 TAG NA18916 nsv830206 5 12594346 12756682 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444232 S 95 1 0 TAG nsv461978 5 12619885 13381289 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538282 S 1557 0 1 TAG 1798860113_A nsv818316 5 12652348 12659091 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415641,nssv1415642,nssv1417438 M 112 0 3 TAG NA10835,NA10863,NA12248 dgv691n27 5 12652348 12723184 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461979,nsv461980 M 1557 0 2 TAG HGDP01003,HGDP01015 dgv5943n71 5 12652348 12833942 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880794,nsv880985 M 6533 0 3 TAG MS22645,MS24285,SP56614 nsv4717 5 12680678 12713711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3329 S 9 1 0 TAG NA12878 dgv5944n71 5 12696099 12887853 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881450,nsv880784,nsv881088 M 6533 0 3 TAG MS10802,MS18648,MS19634 nsv823004 5 12714189 12738744 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424194 S 31 1 0 TAG NA18582 nsv516405 5 12723184 12786263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685986,nssv688387,nssv668112,nssv672428,nssv678228,nssv691797,nssv693170,nssv658510 M 2026 0 8 TAG esv23324 5 12728510 12812105 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11175 S 451 0 2 TAG NA12287,NA18916 nsv509054 5 12733082 12752378 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619411,nssv623436 M 4 2 0 TAG NA10860,NA18994 nsv510897 5 12733082 12771520 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621579 S 4 0 0 TAG NA15510 nsv4718 5 12737830 12749336 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv449 S 9 1 0 TAG NA19240 nsv4719 5 12794215 12838861 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8067 S 9 0 1 TAG NA12156 nsv880396 5 12818292 12839364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560491 S 6533 0 1 TAG MS24503 nsv470990 5 12818292 12840094 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545092,nssv545093 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TAG HGDP00453,HGDP00697 esv1717709 5 12822656 12822656 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320458 S 2 1 0 TAG HuRef esv988401 5 12822657 12822710 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575161 S 3 0 1 TAG HuRef esv1040158 5 12822659 12822713 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858783 S 2 0 1 TAG HuRef nsv436981 5 12833942 13404018 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466862 S 60 0 1 Samples from several populations that are part of the HapMap project. TAG NA10863 nsv880666 5 12834239 12857565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538082 S 6533 0 1 TAG MS13480 nsv881668 5 12837265 12864506 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576318 S 6533 1 0 TAG IS34005 dgv1755e1 5 12839321 13039901 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4907,esv304 M 271 0 0 TAG NA18561 nsv10665 5 12853179 12855012 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14594 S 31 1 0 Samples from several populations that are part of the HapMap project. TAG NA18517 dgv5945n71 5 12857565 12950742 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880300,nsv880500 M 6533 0 2 TAG IS33232,IS37969 nsv881134 5 12857565 13125643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564592 S 6533 0 1 TAG IS30245 nsv511281 5 12861570 12887853 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625021 S 1 0 1 "" 1 nsv10666 5 12863778 12873827 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12877,nssv15203,nssv13509,nssv12606,nssv12190,nssv13224,nssv14048,nssv13503,nssv13130,nssv12281,nssv12722,nssv12335,nssv14457,nssv13294,nssv12886 M 31 0 15 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18552,NA18853,NA18972,NA18975,NA19132 dgv935n67 5 12863801 12873489 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823005,nsv823007,nsv823006 M 31 0 7 "" AK10,AK2,AK20,NA18552,NA18566,NA18947,NA18972 nsv513224 5 12863824 12873567 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626727 S 1 0 1 "" 1 esv23091 5 12863977 12873331 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19551 S 451 0 17 "" NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18508 esv33805 5 12864030 12902553 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98903,essv98831,essv93960,essv100683,essv100970,essv98258,essv94732,essv94460,essv96885,essv97833,essv95684,essv97360,essv101699,essv95782,essv98947,essv92986,essv93602,essv93789,essv96671,essv97104,essv93425,essv99581,essv96536,essv97774,essv98490,essv96282,essv94262 M 51 15 10 "" 21606,21634,21656,21693,21772,21791,21808,21817,21837,21841,21879,21909,21911,21938,21939,21972,22011,22075,22128,22217,22261,22278,22352,22371,22394 nsv820154 5 12864356 12873574 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418567 S 2 0 1 "" AK1 nsv508347 5 12864732 12873968 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617508 S 4 0 1 "" CHM nsv442936 5 12868780 12879650 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514290 5 12869576 12873229 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627732 S 1414 0 1 "" nsv433224 5 12874544 12974838 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463105 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv880463 5 12889913 12960694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590505 S 6533 0 1 "" IS38516 nsv881256 5 12889913 13028063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598745 S 6533 0 1 "" IS41317 nsv880306 5 12889913 13254512 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592610 S 6533 1 0 "" IS39243 esv26521 5 12904702 12906682 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20014 S 451 0 1 "" NA12287 nsv881654 5 12945365 13028063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541134,nssv1533068 M 6533 0 2 "" MS11002,MS15199 nsv880659 5 12950742 13008413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589949 S 6533 0 1 "" IS38436 nsv881489 5 12960694 13066974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502972 S 6533 0 1 "" SP51469 nsv881208 5 12981660 13192018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570485 S 6533 0 1 "" IS32150 nsv508349 5 13008564 13023343 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622519 S 4 0 1 "" NA18994 nsv10667 5 13027662 13034769 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15360,nssv14442,nssv12311 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA12872,NA18502,NA19221 nsv520304 5 13028063 13085839 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697337 S 2026 1 0 "" nsv880353 5 13028063 13174196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570568,nssv1566807 M 6533 0 2 "" IS30925,IS32167 nsv881354 5 13085839 13236329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598659 S 6533 0 1 "" IS41317 nsv433225 5 13093757 13194562 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463106 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12156 nsv880934 5 13105743 13192018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582881 S 6533 0 1 "" IS36196 nsv433226 5 13150705 13224349 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463107 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv880504 5 13197146 13381289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516211 S 6533 1 0 "" SP56549 dgv1756e1 5 13197682 13401985 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19868,essv23680,essv20980 M 271 0 0 "" NA10863,NA12234 dgv1757e1 5 13197682 13456575 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv845,essv18621 M 271 0 0 "" NA12234 nsv10668 5 13204049 13207952 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13709 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv10669 5 13248440 13392025 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15233,nssv12636 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA18972 dgv52n64 5 13254512 13385878 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818318,nsv818317 M 112 0 2 "" NA10863,NA12234 nsv881695 5 13257549 13359035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546118 S 6533 0 1 "" MS17114 dgv200e55 5 13258665 13394742 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34508,esv34691 M 771 0 2 "" NA10863,NA12234 nsv880312 5 13299979 13420397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536066,nssv1545149 M 6533 0 2 "" MS12609,MS16699 nsv880419 5 13302445 13359035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511351 S 6533 0 1 "" SP55021 esv33802 5 13328913 13329073 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93818,essv98548,essv96420 M 51 0 3 "" 21634,22085,22371 nsv526749 5 13345260 13346074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703095 S 2026 0 1 "" esv2422076 5 13415776 13435543 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095316,essv5045497,essv5158971,essv5022457,essv5015781,essv5135831,essv5059344,essv5030450,essv5120722,essv5074376,essv5095296,essv5155770,essv5104909,essv5108182,essv5071638,essv5087433,essv5052524,essv5011978,essv5129957,essv5050072,essv5123891,essv5072050,essv5127369,essv5045656 M 1184 0 24 "" NA19036,NA19044,NA19309,NA19311,NA19321,NA19359,NA19385,NA19904,NA21297,NA21312,NA21314,NA21336,NA21385,NA21386,NA21399,NA21401,NA21402,NA21405,NA21447,NA21475,NA21488,NA21526,NA21587,NA21650 nsv515579 5 13420397 13429546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663957,nssv661883,nssv675513,nssv689049,nssv680488,nssv688776,nssv678201 M 2026 0 7 "" esv2576173 5 13448266 13448435 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254080 S 1 0 1 "" NA18507 nsv4721 5 13453033 13486435 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3330 S 9 0 1 "" NA12878 nsv880696 5 13462868 14002236 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516212 S 6533 1 0 DNAH5 SP56549 nsv830207 5 13465637 13640169 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444233 S 95 1 0 "" esv22172 5 13468392 13475923 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16178 S 451 1 0 "" NA07037 nsv436464 5 13469525 13476145 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466200 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499334 5 13469591 13475870 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585946 S 9 0 1 "" nsv327575 5 13480688 13480740 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346153 M 24 "" nsv522857 5 13501037 13511367 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698512 S 2026 1 0 "" nsv821641 5 13570805 13593437 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421388 S 31 0 1 "" esv268887 5 13581330 13581579 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510171,essv2510106,essv2504459,essv2512418,essv2508398,essv2503824,essv2496165,essv2494751,essv2505890,essv2513456,essv2509575,essv2498912,essv2497526,essv2499789,essv2502116 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11829,NA11993,NA12043,NA12749,NA12761,NA18511,NA18519,NA18861,NA18907,NA19129,NA19138,NA19147,NA19225,NA19257 nsv518248 5 13584250 13595802 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695679 S 2026 0 1 "" nsv522038 5 13686968 13698988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694808 S 2026 0 1 "" nsv4722 5 13702737 13737390 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2684 S 9 1 0 "" NA18555 nsv830208 5 13753248 13914157 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444234 S 95 1 0 DNAH5 nsv880420 5 13794223 13913103 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514957 S 6533 1 0 DNAH5 SP56104 nsv518158 5 13803898 13809463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695579 S 2026 0 1 DNAH5 esv269593 5 13815441 13815707 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510542,essv2493149,essv2500986,essv2507429,essv2504678,essv2506879,essv2506516,essv2498705 M 157 8 0 Samples from several populations that are part of the HapMap project. DNAH5 NA18501,NA18504,NA18856,NA18912,NA19099,NA19102,NA19108,NA19138 nsv516415 5 13841886 14263897 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658215,nssv681786,nssv699697,nssv696287,nssv704787,nssv692878,nssv690137,nssv671451,nssv703364,nssv693944,nssv668217 M 2026 7 4 DNAH5,TRIO esv2469450 5 13880188 13880862 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356570 S 1 1 0 DNAH5 NA18507 esv1927773 5 13882818 13883223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594676 S 1 0 1 DNAH5 NA18507 esv1601219 5 13909243 13909243 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075138 S 2 1 0 DNAH5 HuRef nsv4723 5 13918461 13941590 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2685 S 9 1 0 DNAH5 NA18555 esv2526226 5 13947518 13948928 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225867 S 1 0 1 DNAH5 NA18507 esv2193030 5 13947897 13948573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937077 S 1 0 1 DNAH5 NA18507 esv5337 5 13948033 13948433 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27778 S 1 0 1 Single Asian sample YH DNAH5 YH esv8502 5 13948078 13948373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30943 S 1 0 1 DNAH5 SJK esv997684 5 13948086 13948382 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575815 S 3 0 1 DNAH5 HuRef esv1570352 5 13948092 13948389 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125754 S 2 0 1 DNAH5 HuRef esv270755 5 13995314 13995399 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519152 S 157 1 0 Samples from several populations that are part of the HapMap project. DNAH5 NA19141 esv2313265 5 14020722 14021128 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911897 S 1 0 1 "" NA18507 esv1762502 5 14020914 14021035 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158179 S 2 0 1 "" HuRef esv1630231 5 14097739 14097799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867566 S 2 0 1 "" HuRef esv2752061 5 14162455 14231040 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987286,essv6985867 M 771 1 0 TRIO SPC_70 nsv511275 5 14191248 14204799 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624955 S 1 1 0 TRIO 1 nsv823008 5 14195617 14198712 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432844 S 31 1 0 TRIO NA18972 esv24520 5 14196064 14198380 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13151 S 451 0 5 TRIO NA07037,NA07045,NA12414,NA12878,NA19257 nsv830209 5 14207989 14354758 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444235 S 95 1 0 TRIO esv2410391 5 14260207 14260636 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499687 S 1 0 1 TRIO NA18507 nsv4724 5 14278543 14296167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8068 S 9 0 1 TRIO NA12156 nsv830210 5 14308039 14484552 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444236 S 95 1 0 TRIO esv2138858 5 14361582 14362043 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733712 S 1 0 1 TRIO NA18507 esv2421652 5 14365802 14369381 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5009972,essv5138224,essv5049451,essv5051667,essv5030550,essv5085909,essv5085319,essv5078610,essv5126509,essv5039694,essv5091553,essv5034248,essv5068969,essv5022515,essv5135750,essv5029274,essv5051763,essv5133214,essv5040121,essv5119147,essv5072968,essv5080550,essv5023077,essv5100008,essv5086525,essv5003537,essv5145085,essv5064591,essv5131022,essv5096210,essv5107507,essv5107483,essv5047891,essv5117699,essv5092481,essv5011106,essv5093333,essv5076608,essv5090566,essv5018803,essv5074414,essv5008015,essv5158756,essv5089040,essv5121850,essv5159180,essv5045140,essv5076585,essv5153269,essv5131609,essv5045391,essv5025266,essv5068974,essv5123237,essv5029525 M 1184 0 55 TRIO NA18485,NA18487,NA18500,NA18501,NA18506,NA18509,NA18511,NA18517,NA18873,NA18917,NA18924,NA18925,NA19028,NA19099,NA19131,NA19132,NA19144,NA19147,NA19148,NA19151,NA19197,NA19198,NA19199,NA19202,NA19214,NA19215,NA19223,NA19308,NA19359,NA19371,NA19384,NA19398,NA19429,NA19435,NA19437,NA19445,NA19714,NA19716,NA19751,NA19835,NA19908,NA19916,NA19917,NA19919,NA19921,NA20279,NA20282,NA20284,NA20292,NA20301,NA20302,NA20332,NA20337,NA20348,NA21575 nsv442938 5 14365802 14369381 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TRIO esv1007471 5 14400143 14400143 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574561 S 3 1 0 TRIO HuRef nsv823010 5 14423475 14424595 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435845 S 31 0 1 TRIO NA18566 esv2537252 5 14435869 14435966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336050 S 1 0 1 TRIO NA18507 esv26100 5 14456047 14457719 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14037 S 451 0 1 TRIO NA12414 nsv4725 5 14522602 14567446 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8069 S 9 0 1 TRIO NA12156 nsv830211 5 14527675 14728776 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444237 S 95 0 1 FAM105A,FAM105B,TRIO nsv823011 5 14539405 14542476 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432845 S 31 1 0 TRIO NA18972 esv28520 5 14593834 14594793 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21421 S 451 0 3 "" NA18909,NA19147,NA19225 nsv4726 5 14598656 14614165 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2686 S 9 1 0 "" NA18555 nsv523575 5 14628698 14634556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699360 S 2026 0 1 "" esv23916 5 14634738 14635568 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13632 S 451 0 3 FAM105A NA07037,NA07045,NA12414 dgv936n67 5 14642930 14644928 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823012,nsv823013 M 31 0 2 FAM105A NA18947,NA18972 nsv4727 5 14684491 14710318 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8071,nssv450 M 9 2 0 "" NA12156,NA19240 esv2064556 5 14687119 14687856 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825566 S 1 0 1 "" NA18507 esv1040604 5 14687740 14687740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086711 S 2 1 0 "" HuRef esv1540706 5 14688254 14688254 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875781 S 2 1 0 "" HuRef nsv528770 5 14708699 14710062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705434 S 2026 0 1 "" esv28342 5 14717452 14718082 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17082 S 451 0 1 FAM105B NA07045 esv1000304 5 14738925 14738925 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567823 S 3 1 0 FAM105B HuRef nsv4728 5 14744412 14779011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2687 S 9 1 0 ANKH,FAM105B NA18555 nsv4729 5 14826557 14859166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7146 S 9 1 0 ANKH NA12156 nsv830212 5 14837197 15019683 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444238 S 95 0 1 ANKH,MIR4637 esv28799 5 14924530 14925696 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20272 S 451 0 3 ANKH NA07037,NA07045,NA12414 nsv511287 5 14924900 14925605 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625088 S 1 1 0 "" 1 dgv5946n71 5 14970813 15013920 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881445,nsv881343,nsv881238 M 6533 3 0 "" SP51147,SP52762,SP57973 nsv881333 5 14977458 15015587 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501971 S 6533 1 0 "" SP50973 nsv461982 5 14996456 15097842 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538285 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00598 nsv470991 5 15002696 15075112 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545094 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00598 nsv524142 5 15039700 15071537 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700020 S 2026 0 1 "" esv28505 5 15048242 15053583 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20919 S 451 1 0 "" NA12004 nsv516929 5 15140791 15923300 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657726,nssv692788,nssv661917,nssv682854,nssv660799,nssv660545,nssv663565,nssv688312,nssv690715,nssv665323,nssv665419,nssv664207,nssv659564,nssv662849,nssv684012,nssv671673,nssv684976,nssv681568,nssv664169,nssv664537,nssv662301,nssv690593,nssv687979,nssv672358,nssv668059,nssv686251,nssv673422,nssv660162,nssv678973,nssv684303,nssv678777,nssv662214,nssv686905,nssv670543,nssv655891,nssv662235,nssv658831,nssv693766,nssv682358,nssv658028,nssv674480,nssv674392,nssv682469,nssv662496,nssv652671,nssv689003,nssv678422,nssv665716,nssv691001,nssv688455,nssv676597,nssv654347,nssv668361,nssv676272,nssv657564,nssv675370,nssv671835,nssv660344,nssv661081,nssv655778,nssv681901,nssv653219,nssv703537,nssv675451,nssv678017,nssv693111,nssv658791,nssv678356,nssv686073,nssv676304,nssv659928,nssv698238,nssv657941,nssv692363,nssv676815,nssv690899,nssv668440,nssv679883,nssv683265,nssv651696,nssv666182,nssv691781,nssv687229,nssv671554,nssv665595,nssv688286,nssv674809,nssv680522,nssv662892,nssv658309,nssv670595,nssv698932,nssv675418,nssv687371,nssv685987,nssv674512,nssv687915,nssv662663,nssv655918,nssv661966,nssv658645,nssv680277,nssv668820,nssv685309,nssv691925,nssv681316,nssv693917,nssv677483,nssv692286,nssv664360,nssv666197,nssv681448,nssv660846,nssv674104,nssv691071,nssv652253,nssv682050,nssv673009,nssv663497,nssv655434,nssv690663,nssv670809,nssv655482,nssv692637,nssv675850,nssv670014,nssv658511,nssv655593,nssv670376,nssv657703,nssv691209,nssv666502,nssv691462,nssv667582,nssv679305,nssv678680,nssv662578,nssv676432,nssv675585,nssv652944,nssv652488,nssv689384,nssv688131,nssv682785,nssv676476,nssv661991,nssv680489,nssv683199,nssv670893,nssv668620,nssv659690,nssv663448,nssv680588,nssv660634,nssv662330,nssv657641,nssv667904,nssv670126,nssv652806,nssv655672,nssv663836,nssv682184,nssv651975,nssv687743,nssv692101,nssv684768,nssv653166,nssv671971,nssv695796,nssv652325,nssv692735,nssv690330,nssv678734,nssv683324,nssv660415,nssv677951,nssv672795,nssv693519,nssv691194,nssv690615,nssv668233,nssv690371,nssv661660,nssv690576,nssv690648,nssv676560,nssv680175,nssv660376,nssv666978,nssv651972,nssv681918,nssv675676,nssv671079,nssv670567,nssv686090,nssv657850,nssv653288,nssv684426,nssv687826,nssv655388,nssv671755,nssv660571,nssv673257,nssv679146,nssv653735,nssv691288,nssv666737,nssv679010,nssv656238,nssv660108,nssv687136,nssv653215,nssv671479,nssv652539,nssv674794,nssv700545 M 2026 16 200 FBXL7 nsv881665 5 15202009 15370509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554920 S 6533 0 1 "" MS21100 nsv830213 5 15234147 15375203 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444239 S 95 1 0 "" esv23588 5 15281040 15283988 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10390 S 451 0 2 "" NA18861,NA19108 esv7573 5 15303992 15304063 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30014 S 1 1 0 "" SJK nsv330190 5 15318390 15318457 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348768 M 24 "" nsv330111 5 15318390 15318491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348689 M 24 "" esv1091445 5 15318505 15318573 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097776 S 2 0 1 "" HuRef nsv881558 5 15344398 15473775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532662 S 6533 0 1 "" MS10802 dgv1758e1 5 15362984 15386853 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12908,esv1407 M 271 0 0 "" NA18522 nsv10670 5 15363087 15364669 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12797 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv507232 5 15415969 15421969 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620282 S 4 1 0 "" NA15510 nsv4730 5 15577167 15608151 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4819 S 9 1 0 FBXL7 NA19129 nsv830214 5 15642809 15844032 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444241 S 95 1 0 FBXL7 nsv4732 5 15651325 15689520 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8072 S 9 0 1 FBXL7 NA12156 nsv4733 5 15662215 15694646 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10438 S 9 1 0 FBXL7 NA18956 nsv880755 5 15723377 15991553 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535115 S 6533 1 0 FBXL7 MS12018 nsv461983 5 15727635 15773106 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538286 S 1557 0 1 FBXL7 1780862347_A essv11607 5 15731556 15773478 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FBXL7 NA19207 esv1150 5 15731556 15863987 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FBXL7 essv6409 5 15747406 15776346 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FBXL7 NA18545 dgv1759e1 5 15767022 15776346 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2766,essv8568,essv943,essv5876,essv3905,essv2743,essv3637 M 271 0 0 FBXL7 NA18562,NA18949,NA18960,NA18965,NA18966,NA19000,NA19130 dgv1760e1 5 15767022 15863987 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22280,essv21896,essv24095 M 271 0 0 FBXL7 NA07048,NA10838,NA12762 essv19140 5 15769286 15773478 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FBXL7 NA12812 dgv1761e1 5 15769286 15782509 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv628,essv15924,essv18513,essv21947,essv20450,essv5648,essv5690 M 271 0 0 FBXL7 NA06994,NA07000,NA12763,NA18579,NA18605,NA18998,NA19205 dgv1762e1 5 15769286 15787898 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19118,essv25161,essv24319,essv20849,essv7439,essv21499,essv19739,essv23637,essv21100 M 271 0 0 FBXL7 NA07055,NA10854,NA10859,NA11829,NA11839,NA11882,NA12003,NA12044,NA18582 essv23288 5 15769286 15799398 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FBXL7 NA12006 nsv10671 5 15772037 15774344 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13533 S 31 0 1 Samples from several populations that are part of the HapMap project. FBXL7 NA07048 nsv442939 5 15772218 15773597 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FBXL7 essv11383 5 15772222 15773478 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. FBXL7 NA19127 esv2421516 5 15772222 15773597 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005292,essv5158657,essv5119311,essv5153120,essv5108493,essv5061489,essv5098231,essv5126207,essv5131663,essv5049959,essv5126516,essv5053645,essv5082808,essv5126731,essv5023720,essv5033573,essv5097234,essv5013388,essv5087684,essv5050366,essv5090678,essv5153116,essv5122863,essv5060139,essv5019990,essv5029145,essv5067453,essv5024163,essv5129044,essv5037213,essv5122501,essv5093948,essv5021231,essv5082747,essv5029126,essv5019030,essv5127837,essv5030810,essv5048797,essv5008800,essv5024040,essv5143073,essv5050781,essv5133973,essv5104798,essv5085652,essv5128852,essv5045318,essv5052977,essv5099313,essv5145721,essv5084135,essv5042153,essv5014133,essv5109884,essv5127980,essv5034037,essv5026154,essv5050757,essv5015706,essv5107760,essv5075929,essv5116446,essv5077196,essv5007374,essv5070469,essv5084790,essv5010107,essv5120063,essv5098537,essv5059726,essv5026935,essv5134446,essv5078296,essv5159262,essv5006211,essv5110033,essv5146992,essv5052686,essv5130924,essv5010770,essv5084505,essv5125719,essv5134969,essv5041647,essv5154894,essv5021381,essv5038641,essv5127590,essv5080430,essv5046461,essv5147899,essv5003609,essv5151863,essv5029403,essv5130073,essv5091591,essv5073440,essv5076052,essv5062934,essv5048156,essv5070687,essv5012701,essv5126197,essv5076347,essv5031243,essv5039138,essv5124095,essv5142488,essv5061348,essv5032726,essv5060963,essv5031621,essv5039011,essv5153830,essv5049672,essv5074893,essv5138144,essv5143305,essv5086272,essv5033163,essv5074242,essv5069768,essv5121233,essv5125282,essv5047647,essv5110645,essv5109286,essv5009379,essv5151472,essv5011685,essv5019682,essv5135748,essv5144263,essv5002716,essv5144712,essv5140362,essv5049292,essv5015064,essv5052790,essv5097551,essv5065958,essv5028901,essv5159232,essv5042031,essv5098499,essv5003836,essv5141436,essv5125377,essv5144296,essv5137708,essv5102336,essv5127981,essv5008661,essv5018024,essv5087894,essv5037274,essv5124048,essv5078783,essv5074642,essv5009058,essv5016607,essv5057331,essv5140935,essv5109531,essv5054988,essv5152239,essv5148176,essv5098218,essv5083602,essv5155997,essv5018641,essv5092393,essv5129866,essv5091854,essv5050492,essv5029625,essv5054517,essv5137550,essv5149589,essv5037543,essv5089727,essv5152784,essv5120391,essv5056902,essv5030467,essv5126781,essv5029437,essv5093966,essv5061035,essv5047928,essv5035618,essv5120480,essv5124745,essv5060758,essv5036874,essv5111518,essv5150594,essv5009533,essv5002606,essv5053698,essv5020533,essv5139953,essv5008670,essv5038885,essv5101487,essv5009029,essv5122755,essv5129632,essv5015858,essv5054239,essv5153573,essv5141671,essv5073067,essv5111889,essv5025340,essv5104000,essv5091314,essv5095261,essv5004607,essv5100181,essv5083730,essv5071576,essv5009843,essv5093313,essv5117237,essv5036901 M 1184 0 227 FBXL7 NA06984,NA06986,NA06994,NA06997,NA07000,NA07031,NA07055,NA10838,NA10843,NA10852,NA10854,NA10859,NA11829,NA11839,NA11843,NA11882,NA11919,NA11930,NA12003,NA12006,NA12044,NA12045,NA12275,NA12739,NA12748,NA12762,NA12763,NA12766,NA12775,NA12812,NA12814,NA12832,NA12842,NA12843,NA17962,NA17970,NA17977,NA18120,NA18132,NA18140,NA18143,NA18543,NA18545,NA18559,NA18562,NA18579,NA18582,NA18605,NA18933,NA18949,NA18954,NA18960,NA18965,NA18966,NA18979,NA18998,NA19000,NA19027,NA19036,NA19056,NA19086,NA19102,NA19114,NA19127,NA19129,NA19130,NA19176,NA19184,NA19185,NA19186,NA19203,NA19207,NA19208,NA19225,NA19236,NA19237,NA19321,NA19328,NA19380,NA19448,NA19466,NA19467,NA19469,NA19471,NA19472,NA19625,NA19652,NA19653,NA19654,NA19656,NA19661,NA19664,NA19669,NA19682,NA19683,NA19685,NA19686,NA19723,NA19724,NA19725,NA19747,NA19748,NA19755,NA19795,NA19796,NA19819,NA19904,NA20129,NA20284,NA20291,NA20292,NA20295,NA20332,NA20333,NA20342,NA20345,NA20517,NA20519,NA20524,NA20527,NA20530,NA20539,NA20757,NA20760,NA20765,NA20766,NA20769,NA20797,NA20800,NA20801,NA20802,NA20804,NA20810,NA20812,NA20845,NA20847,NA20849,NA20854,NA20856,NA20861,NA20866,NA20869,NA20873,NA20874,NA20877,NA20879,NA20881,NA20885,NA20890,NA20892,NA20895,NA20898,NA20899,NA20903,NA20911,NA21090,NA21098,NA21099,NA21101,NA21103,NA21106,NA21108,NA21111,NA21112,NA21116,NA21117,NA21123,NA21143,NA21300,NA21311,NA21314,NA21316,NA21317,NA21320,NA21353,NA21355,NA21357,NA21360,NA21363,NA21364,NA21365,NA21366,NA21378,NA21381,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21399,NA21400,NA21401,NA21403,NA21404,NA21405,NA21415,NA21417,NA21424,NA21440,NA21441,NA21442,NA21447,NA21448,NA21475,NA21476,NA21477,NA21489,NA21491,NA21509,NA21517,NA21519,NA21524,NA21525,NA21527,NA21528,NA21582,NA21583,NA21587,NA21596,NA21611,NA21614,NA21615,NA21682,NA21722,NA21733,NA21738 dgv1763e1 5 15772222 15776346 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16608,essv7940,essv14904,essv25102,essv12953 M 271 0 0 FBXL7 NA12814,NA19102,NA19129,NA19203,NA19208 esv23849 5 15772329 15773964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17129 S 451 0 5 FBXL7 NA12006,NA12044,NA19114,NA19129,NA19225 nsv818319 5 15772350 15773478 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416064 S 112 0 1 FBXL7 NA12812 nsv471736 5 15772456 15773910 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646017 M 0.317 95 FBXL7 nsv823014 5 15772493 15773796 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424195,nssv1437431 M 31 0 2 FBXL7 NA18582,NA18949 nsv514291 5 15772604 15773690 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627733 S 1414 0 1 FBXL7 nsv461985 5 15772769 15773478 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538288 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBXL7 HGDP00057 nsv818320 5 15772769 15773478 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417465,nssv1417020,nssv1417484,nssv1418066,nssv1417378,nssv1416784,nssv1417019,nssv1418065 M 112 0 8 FBXL7 NA06994,NA07000,NA10859,NA11882,NA12044,NA18949,NA18960,NA18965 nsv4734 5 15781066 15814192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2507 S 9 1 0 FBXL7 NA18555 esv2395102 5 15800988 15801402 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756523 S 1 0 1 FBXL7 NA18507 nsv830216 5 15913662 16113420 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444242 S 95 0 1 FBXL7 esv2517640 5 15958709 15966157 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374371 S 1 0 1 FBXL7 NA18507 esv2021602 5 15959355 15965876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4831624 S 1 0 1 FBXL7 NA18507 nsv4735 5 15969346 16014432 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8073 S 9 0 1 FBXL7 NA12156 nsv830217 5 16057704 16278229 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444243 S 95 1 0 MARCH11 esv2567134 5 16126811 16128200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308412 S 1 0 1 MARCH11 NA18507 nsv507233 5 16167767 16173767 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617662,nssv622925,nssv621778,nssv620283 M 4 4 0 MARCH11 CHM,NA10860,NA15510,NA18994 nsv471738 5 16177796 16178501 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646019 M 0.063 95 MARCH11 esv25496 5 16177833 16178678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14296 S 451 0 2 MARCH11 NA11931,NA12878 nsv330082 5 16203013 16203779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348660 M 24 MARCH11 esv29154 5 16203030 16203746 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15348 S 451 0 6 MARCH11 NA12044,NA18505,NA18508,NA18916,NA19225,NA19257 esv6332 5 16219612 16219896 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28773 S 1 0 0 MARCH11 SJK esv1968274 5 16219894 16220322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678777 S 1 0 1 MARCH11 NA18507 esv25878 5 16232167 16233231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17791 S 451 0 3 MARCH11 NA07037,NA07045,NA12414 esv273144 5 16444757 16444928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581973,essv2582724,essv2583256 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv272114 5 16444759 16445035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546377,essv2523058,essv2568147,essv2544297,essv2537573,essv2528535,essv2547066,essv2557357,essv2557187,essv2552410,essv2551849,essv2569424,essv2578615,essv2550167,essv2539028,essv2527133,essv2561369,essv2542169,essv2551088,essv2543593,essv2538583,essv2549761 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA11995,NA12414,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18511,NA18519,NA18522,NA18523,NA18856,NA18858,NA18870,NA19108,NA19225 nsv4736 5 16446955 16492055 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8074 S 9 0 1 "" NA12156 esv269198 5 16517271 16517356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516490 S 157 1 0 Samples from several populations that are part of the HapMap project. ZNF622 NA12814 esv270633 5 16523294 16523597 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511412,essv2508021,essv2505552,essv2493492,essv2503610,essv2503988 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11920,NA12003,NA12154,NA12763 nsv881187 5 16567269 16707960 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522801 S 6533 1 0 FAM134B SP53441 esv275370 5 16570130 16573379 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585813 S 1250 0 1 FAM134B esv1983383 5 16577834 16578185 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818920 S 1 0 1 FAM134B NA18507 esv1003044 5 16577952 16577952 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574503 S 3 1 0 FAM134B HuRef esv1371607 5 16578023 16578023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727512 S 2 1 0 FAM134B HuRef esv1409700 5 16677387 16677471 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231132 S 2 0 1 "" HuRef nsv436482 5 16688711 16708705 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466201 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv21670 5 16703304 16713144 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13219 S 451 2 0 "" NA11931,NA12006 nsv522062 5 16723618 16732966 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694126 S 2026 0 1 MYO10 nsv516145 5 16726685 16732966 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677394,nssv676223,nssv666464 M 2026 0 3 MYO10 nsv4737 5 16734166 16760357 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8075 S 9 0 1 MYO10 NA12156 nsv880373 5 16763572 16838604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522802 S 6533 1 0 MYO10 SP53441 esv268284 5 16769586 16769929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514153,essv2515288,essv2518514,essv2516414,essv2517769,essv2517331,essv2513675 M 157 7 0 Samples from several populations that are part of the HapMap project. MYO10 NA07347,NA12043,NA12249,NA12287,NA12814,NA12878,NA18970 esv274094 5 16769586 16769929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581389 S 7 1 0 Samples from several populations that are part of the HapMap project. MYO10 NA12878 esv1009519 5 16769612 16769612 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567699 S 3 1 0 MYO10 HuRef esv1329295 5 16769627 16769627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103632 S 2 1 0 MYO10 HuRef nsv520128 5 16790513 16799784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687119,nssv661052 M 2026 0 2 MYO10 nsv880277 5 16882442 17369288 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522803 S 6533 1 0 BASP1,LOC285696,MYO10 SP53441 nsv461987 5 16887568 16901200 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538289 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYO10 HGDP01321 esv29770 5 16923107 16923711 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18971 S 451 0 1 MYO10 NA18505 nsv471739 5 16942000 16944718 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646020 M 0.042 95 MYO10 esv22694 5 16942714 16944025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10206 S 451 0 1 MYO10 NA19114 esv4922 5 16997194 16997500 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27363 S 1 0 1 Single Asian sample YH "" YH nsv328398 5 16997204 16997291 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346976 M 24 "" esv1333128 5 16997260 16997336 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199676 S 2 0 1 "" HuRef esv26757 5 17027643 17031522 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17337 S 451 0 3 "" NA18523,NA19099,NA19114 esv26896 5 17052166 17065826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15389 S 451 0 1 "" NA12239 esv1223475 5 17077231 17077231 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698627 S 2 1 0 "" HuRef esv1299626 5 17104892 17104892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810644 S 2 1 0 "" HuRef esv1269060 5 17104895 17104895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734463 S 2 1 0 "" HuRef esv1069882 5 17116317 17116317 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940034 S 2 1 0 "" HuRef nsv327670 5 17131843 17138787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346248 M 24 "" nsv830218 5 17146162 17343045 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444244 S 95 0 1 BASP1,LOC285696 nsv4738 5 17231267 17276677 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv7147 S 9 0 1 BASP1,LOC285696 NA12156 nsv521697 5 17264649 17278333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698318 S 2026 0 1 BASP1,LOC285696 nsv823015 5 17269009 17272199 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432847 S 31 1 0 BASP1,LOC285696 NA18972 nsv515766 5 17336367 17359790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686585,nssv659309,nssv685447,nssv664714 M 2026 0 4 "" nsv830219 5 17378802 17571914 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444250,nssv1444245,nssv1444246,nssv1444249,nssv1444247,nssv1444248,nssv1444253,nssv1444252 M 95 7 1 LOC401177 esv25928 5 17395748 17410008 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19164 S 451 0 1 "" NA12828 nsv441940 5 17400702 17409239 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514292 5 17401248 17408010 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627734 S 1414 0 1 "" dgv1764e1 5 17417700 17597918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12594,essv16793,essv2853 M 271 0 0 LOC401177 NA18872,NA18953,NA19098 dgv1765e1 5 17417700 17757290 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv814,essv10170,essv22518,essv18198,essv696,essv17062,essv20292,essv6762,essv1255,essv3451,essv8100,essv10727,essv12977,essv4230,essv15660,essv1192,essv15995,essv5599,essv22139,essv2484,essv12212,essv7233,essv13547,essv547,essv4466,essv4158,essv21784,essv15100,essv17599,essv16483,essv15754,essv21719,essv5941,essv7708,essv4204,essv16974,essv3150,essv16209,essv5057,essv920,essv2239,essv7537,essv13783,essv11616,essv20,essv12351,essv11736,essv6284,essv24397,essv15171,essv15608,essv5242,essv13083,essv13906,essv19293,essv14515,essv18924,essv24560,essv14335,essv9107,essv18153,essv22340,essv8459,essv17576,essv24986,essv9237,essv16461,essv17175,essv9713,essv12749,essv1020,essv18256,essv3822,essv12381,essv3358,essv229,essv2031,essv7420,essv14770,essv459,essv20605,essv3267,essv2222,essv2806,essv10559,essv5143,essv6031,essv1113,essv23604,essv17236,essv2633,essv124,essv11132,essv12501,essv22213,essv17955,essv382 M 271 0 0 LOC401177 NA06985,NA07056,NA10838,NA10839,NA10846,NA10857,NA11882,NA11992,NA11993,NA12003,NA12005,NA12006,NA12044,NA12057,NA12144,NA12239,NA12248,NA12707,NA12753,NA12762,NA18501,NA18503,NA18504,NA18516,NA18523,NA18526,NA18529,NA18545,NA18547,NA18550,NA18552,NA18555,NA18562,NA18564,NA18571,NA18576,NA18603,NA18623,NA18624,NA18633,NA18636,NA18852,NA18854,NA18859,NA18860,NA18912,NA18913,NA18914,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18960,NA18964,NA18966,NA18967,NA18968,NA18971,NA18972,NA18973,NA18975,NA18987,NA18991,NA18992,NA18995,NA18998,NA18999,NA19000,NA19005,NA19012,NA19101,NA19128,NA19129,NA19130,NA19131,NA19137,NA19138,NA19139,NA19144,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19194,NA19202,NA19206,NA19207,NA19210,NA19211,NA19238,NA19240 nsv428464 5 17417700 17757290 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450372,nssv450382,nssv450371,nssv450373,nssv450375,nssv450374,nssv450379,nssv450336,nssv450370,nssv450380,nssv450377,nssv450381 M 62 12 0 LOC401177 HGDP00450,HGDP00460,HGDP00471,HGDP00984,HGDP01087,HGDP01093,HGDP01094,NA18916,NA19113,NA19181,NA19189,NA19225 dgv1766e1 5 17417700 17972161 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18854,esv680 M 271 0 0 LOC401177 NA12751 esv987931 5 17442388 17443514 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565146 S 3 0 1 "" HuRef dgv5947n71 5 17443145 17581981 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881355,nsv881474 M 6533 2 0 "" SP53441,SP81141 nsv461989 5 17456618 17755558 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538290 S 1557 1 0 "" 1780862373_A nsv881277 5 17487249 17522290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504996 S 6533 0 1 "" SP52951 nsv881171 5 17487249 17581981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597891 S 6533 1 0 "" IS41102 nsv880858 5 17490494 17566394 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539253 S 6533 0 1 "" MS14281 nsv881158 5 17498833 17542383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509232 S 6533 1 0 "" SP54768 nsv10673 5 17510191 17526214 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14487,nssv14571,nssv14503 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18504,NA18860,NA19132 nsv880515 5 17516806 17581981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500700,nssv1516763 M 6533 0 2 "" SP50571,SP56927 esv25854 5 17517679 17524244 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14563 S 451 0 3 "" NA12287,NA18508,NA18916 nsv516462 5 17522464 17713838 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660906,nssv677101,nssv663084,nssv703713,nssv680158,nssv666723,nssv670568,nssv672329,nssv652942,nssv704495,nssv700806,nssv698572,nssv668565,nssv656678,nssv657876,nssv653910,nssv690900,nssv676598,nssv688111,nssv657172,nssv660941,nssv660800,nssv687182,nssv698261,nssv663711,nssv687705,nssv681704,nssv661451,nssv669909,nssv672058 M 2026 1 29 "" dgv5e195 5 17534599 17570440 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array esv2422024,esv2421368 M 1184 0 25 "" NA10852,NA12829,NA18112,NA18497,NA18498,NA18499,NA18871,NA18872,NA18912,NA19036,NA19044,NA19122,NA19207,NA19208,NA19257,NA19258,NA19399,NA19463,NA19914,NA19917,NA20300,NA20348,NA20356,NA20358,NA21379 esv22107 5 17534743 17708900 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10555,esv16791,esv18423,esv18012,esv10303,esv15195 M 451 11 6 "" NA11894,NA12006,NA12239,NA12287,NA12489,NA12776,NA18517,NA18907,NA18909,NA18916,NA19108,NA19129,NA19225,NA19240,NA19257 nsv515020 5 17537090 17688888 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627022 S 1414 0 0 "" nsv7368 5 17543924 17639958 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2508,nssv11099,nssv10439,nssv4820 M 9 0 0 "" NA15510,NA18555,NA18956,NA19129 dgv1767e1 5 17544212 17564713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9510,essv12906 M 271 0 0 "" NA18521,NA18522 dgv1768e1 5 17544212 17675214 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8022,essv13386,essv8682,essv24611,essv3427 M 271 0 0 "" NA12875,NA18871,NA18872,NA18912,NA18956 dgv1769e1 5 17544212 17725039 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10179,essv11605,essv9851,essv24026 M 271 0 0 "" NA12873,NA18516,NA19144,NA19207 nsv10674 5 17548989 17835098 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13288,nssv14654,nssv13284,nssv13384,nssv12916,nssv12827,nssv12857,nssv14624,nssv13318,nssv14684,nssv13278,nssv13378,nssv14714,nssv14533,nssv13248,nssv12395,nssv13218,nssv15263,nssv14601,nssv13951,nssv13348,nssv14804,nssv15293,nssv13891,nssv12956,nssv13315,nssv12079,nssv13308,nssv12986,nssv14661,nssv13324,nssv13539,nssv13354,nssv12946,nssv13569,nssv13254,nssv12365,nssv12049,nssv13444,nssv13921,nssv14631,nssv13285,nssv14563 M 31 8 12 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA12740,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18860,NA18972,NA18975,NA18980,NA19007,NA19144,NA19240 esv992863 5 17551059 17552130 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586422 S 3 1 0 "" HuRef esv4276 5 17552390 17673732 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26717 S 1 0 0 Single Asian sample YH "" YH esv6319 5 17552399 17648655 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28760 S 1 0 1 "" SJK esv2652145 5 17559369 17653541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329557 S 1 0 1 "" NA18507 esv2421476 5 17562888 17570440 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5075009,essv5153705,essv5062023,essv5080372,essv5026105,essv5151823,essv5126300,essv5045957,essv5033071,essv5044298,essv5104465,essv5041699,essv5145541,essv5141008,essv5136999,essv5057869,essv5140607,essv5084574,essv5092651,essv5102241,essv5078483,essv5011786,essv5039009,essv5145231,essv5029462,essv5153090,essv5089739,essv5149388,essv5071118,essv5064270,essv5011175,essv5049155,essv5022096,essv5083535,essv5101107,essv5090534,essv5058045,essv5072965,essv5053442,essv5005772,essv5156984,essv5066422,essv5069065 M 1184 16 27 "" NA10846,NA10852,NA12144,NA12716,NA12818,NA12829,NA18112,NA18497,NA18498,NA18499,NA18871,NA18872,NA18912,NA19036,NA19044,NA19122,NA19131,NA19171,NA19197,NA19199,NA19207,NA19208,NA19225,NA19257,NA19258,NA19360,NA19399,NA19463,NA19714,NA19720,NA19914,NA19917,NA20300,NA20348,NA20356,NA20358,NA20364,NA20522,NA21089,NA21379,NA21520,NA21613,NA21826 nsv442940 5 17563468 17568801 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv35046 5 17564713 17829300 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978846,essv6978845,essv6978848,essv6988059,essv6978847 M 771 0 1 "" NA12740 nsv436456 5 17566109 17653307 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466202 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv522154 5 17566394 17776087 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694927 S 2026 1 0 "" dgv5948n71 5 17569942 17695703 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881611,nsv880775 M 6533 3 0 "" IS30506,IS38515,MS11694 nsv509055 5 17570558 17663978 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620812,nssv619412,nssv623437 M 4 3 0 "" NA10860,NA15510,NA18994 nsv821455 5 17570582 17643726 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420500 S 1 0 1 "" NA10851 esv993261 5 17570658 17649548 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586168 S 3 1 0 "" HuRef nsv4739 5 17570733 17573885 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv451 S 9 1 0 "" NA19240 nsv4740 5 17580066 17653641 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2509,nssv10440,nssv3331 M 9 0 3 "" NA12878,NA18555,NA18956 essv21390 5 17583652 17856890 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12740 nsv880611 5 17613454 17730509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588805 S 6533 0 1 "" IS38252 nsv4741 5 17632762 17636326 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3332 S 9 1 0 "" NA12878 nsv4745 5 17641841 17677358 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2510,nssv454,nssv452,nssv3333,nssv4821,nssv7148 M 9 5 0 "" NA12156,NA12878,NA18555,NA19129,NA19240 dgv5949n71 5 17642680 17717980 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880692,nsv880477,nsv881110 M 6533 0 6 "" SP51037,SP51449,SP52110,SP55937,SP56012,SP57408 dgv5950n71 5 17642680 17755558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880721,nsv880337,nsv881023,nsv880267,nsv881329,nsv881687 M 6533 0 9 "" MS10946,MS17624,SP50183,SP50571,SP50798,SP51192,SP55803,SP56927,SP57058 nsv881457 5 17642680 17766033 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563832,nssv1566373,nssv1576497,nssv1521701 M 6533 1 3 "" IS30084,IS30669,IS34081,SP52552 dgv5951n71 5 17642680 17797421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881162,nsv880907 M 6533 0 2 "" IS36442,SP52299 dgv5952n71 5 17642680 17957829 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881550,nsv880367 M 6533 2 0 "" MS21538,SP53441 esv33173 5 17643755 17653628 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94844,essv95824 M 51 0 2 "" 21791,21911 nsv442941 5 17644656 17698273 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421489 5 17644656 17698277 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5093026,essv5039092,essv5078555,essv5035354,essv5102212,essv5135647,essv5032081,essv5099416,essv5016175,essv5128109,essv5096250,essv5078843,essv5031198,essv5136606,essv5038981,essv5056862,essv5138397,essv5020189,essv5065891,essv5158776,essv5025413,essv5065867,essv5056178,essv5044186,essv5001996,essv5149348,essv5030872,essv5136114,essv5016083,essv5086181,essv5058095,essv5126570 M 1184 0 32 "" NA06986,NA06989,NA06997,NA12489,NA12865,NA12873,NA12875,NA17962,NA17993,NA18112,NA18114,NA18148,NA18515,NA18516,NA18517,NA18956,NA19036,NA19113,NA19137,NA19139,NA19144,NA19210,NA19211,NA19908,NA20531,NA20538,NA20804,NA20816,NA20872,NA20904,NA21384,NA21386 dgv1770e1 5 17645906 17675214 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15936,essv24444 M 271 0 0 "" NA12865,NA18515 dgv1771e1 5 17645906 17704795 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14655,essv10597 M 271 0 0 "" NA19145,NA19211 dgv1772e1 5 17645906 17734268 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17366,essv8973 M 271 0 0 "" NA18517,NA19139 nsv469893 5 17647192 17839000 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649914 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv513735 5 17647443 17652283 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626987 S 1 1 0 "" 1 esv34534 5 17647713 17829272 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988062,essv6978869,essv6978868 M 771 0 1 "" NA12751 dgv101e19 5 17648715 17668187 CNV Loss Ahn et al 2009 19470904 Sequencing esv6441,esv8100 M 1 0 1 "" SJK nsv830220 5 17648993 17755805 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444274,nssv1444272,nssv1444271,nssv1444275,nssv1444276,nssv1444257,nssv1444254,nssv1444256,nssv1444255,nssv1444263,nssv1444259,nssv1444270,nssv1444258,nssv1444260,nssv1444261,nssv1444269,nssv1444265,nssv1444268,nssv1444264,nssv1444267,nssv1444266 M 95 20 1 "" nsv433227 5 17649730 17703857 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463108 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 esv2279111 5 17652448 17666826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729172 S 1 0 1 "" NA18507 nsv880832 5 17658443 17729797 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507403,nssv1513448,nssv1500797,nssv1502295 M 6533 1 3 "" SP50977,SP51109,SP54580,SP55765 esv989912 5 17664225 17668053 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586091 S 3 1 0 "" HuRef nsv470992 5 17671544 17775178 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545095 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00940 nsv461990 5 17671545 17676715 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538291 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00479 nsv818321 5 17671545 17676715 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415754,nssv1415755 M 112 0 2 "" NA12865,NA12875 dgv53n64 5 17671545 17703857 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818323,nsv818324 M 112 0 6 "" NA18515,NA18516,NA18517,NA19137,NA19139,NA19144 nsv517998 5 17671545 17775178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695409 S 2026 0 1 "" nsv823016 5 17671926 17684485 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427477,nssv1428262 M 31 0 2 "" AK10,AK8 dgv1773e1 5 17672912 17840103 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24171,essv23707 M 271 0 0 "" NA12740,NA12751 dgv692n27 5 17675214 17780897 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461992,nsv461991 M 1557 0 2 "" 1780862180_A,HGDP00940 dgv5953n71 5 17676715 17780897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880490,nsv880654 M 6533 0 2 "" IS38665,SP58249 nsv524485 5 17695703 17755558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700423 S 2026 0 1 "" nsv818325 5 17695703 17830571 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415954,nssv1415953 M 112 0 2 "" NA12740,NA12751 esv2514148 5 17701837 17703297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209490 S 1 0 1 "" NA18507 esv1979100 5 17701892 17702952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706253 S 1 0 1 "" NA18507 nsv471740 5 17702053 17702849 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646021 M 0.085 95 "" nsv881262 5 17703857 17797421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509262 S 6533 0 1 "" SP54774 nsv461993 5 17713466 17730509 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538294 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01339 nsv330110 5 17717907 17717995 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348688 M 24 "" dgv5954n71 5 17730509 18047475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881518,nsv880263 M 6533 0 2 "" IS40396,MS12149 nsv4746 5 17738170 17784943 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv455 S 9 0 1 "" NA19240 esv1005229 5 17744406 17753325 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564470 S 3 0 1 "" HuRef esv25810 5 17744739 17751224 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9825 S 451 10 0 "" NA11995,NA12004,NA12006,NA12749,NA12776,NA12878,NA18508,NA19114,NA19147,NA19190 nsv820629 5 17744739 17751224 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420501 S 1 0 1 "" NA10851 esv268215 5 17745272 17745601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565646,essv2540748,essv2546233,essv2525884,essv2542374,essv2536382,essv2543879,essv2570910,essv2556759,essv2545598,essv2523196,essv2577597,essv2570472,essv2521692,essv2525279,essv2550490,essv2535068,essv2554256,essv2544546,essv2552133,essv2520602,essv2547268,essv2529144,essv2558686,essv2564500,essv2553593,essv2565305,essv2576481,essv2520070,essv2564313,essv2555104,essv2530529,essv2562087,essv2537492,essv2528368,essv2552568,essv2569216,essv2536916,essv2569822,essv2544675,essv2563056,essv2523510,essv2552778,essv2524504,essv2534772,essv2560968,essv2539810,essv2519894,essv2522063,essv2566063,essv2531009,essv2532753,essv2541735,essv2570269,essv2553397,essv2535824,essv2569191,essv2533649,essv2566461,essv2574051,essv2522583,essv2573456,essv2526850,essv2575609,essv2560574,essv2574729,essv2546086,essv2574133,essv2551443,essv2536363,essv2537736,essv2549113,essv2533287,essv2554468,essv2547630,essv2525048,essv2563177,essv2557843 M 157 78 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA12003,NA12004,NA12043,NA12044,NA12144,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18502,NA18508,NA18517,NA18520,NA18526,NA18532,NA18537,NA18542,NA18555,NA18561,NA18562,NA18563,NA18566,NA18571,NA18572,NA18573,NA18576,NA18592,NA18593,NA18605,NA18608,NA18861,NA18944,NA18948,NA18951,NA18960,NA18964,NA19005,NA19099,NA19116,NA19138,NA19239,NA19240,NA19257 esv274167 5 17745272 17745601 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582097,essv2582618,essv2584589,essv2583536 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv1689608 5 17745306 17745306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067312 S 2 1 0 "" HuRef nsv515021 5 17745656 17746082 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627023 S 1414 0 0 "" esv1177922 5 17745717 17748753 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997592 S 2 0 1 "" HuRef dgv5955n71 5 17749587 17812626 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881239,nsv880360,nsv881140 M 6533 0 7 "" IS39205,SP50555,SP51398,SP56172,SP56381,SP58548,SP81097 nsv881366 5 17749587 17878321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544984 S 6533 0 1 "" MS16621 nsv469764 5 17757573 17916587 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649785 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv509961 5 17791140 17797140 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623973,nssv622082 M 4 0 2 "" NA10860,NA18994 nsv880810 5 17824060 17863873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501557 S 6533 0 1 "" SP51025 esv1283774 5 17848008 17848008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264064 S 2 1 0 "" HuRef esv1398165 5 17848258 17848258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346393 S 2 1 0 "" HuRef nsv823017 5 17889861 17896462 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431296 S 31 0 1 "" NA18592 esv1595312 5 17919778 17919778 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006844 S 2 1 0 "" HuRef nsv4747 5 17926915 17971662 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8076 S 9 0 1 "" NA12156 esv1657978 5 17936473 17936473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4049930 S 2 1 0 "" HuRef nsv881111 5 17966021 19497820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522806 S 6533 1 0 "" SP53441 esv1760017 5 17978893 17978956 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781129 S 2 0 1 "" HuRef nsv4748 5 18012523 18045732 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8077 S 9 1 0 "" NA12156 dgv5956n71 5 18187934 18308494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881490,nsv881193 M 6533 0 5 "" IS30147,IS34440,IS35018,IS40627,IS40890 esv1603756 5 18207595 18207657 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025218 S 2 0 1 "" HuRef nsv507234 5 18220310 18226310 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620284 S 4 1 0 "" NA15510 esv2550137 5 18249246 18250713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316052 S 1 0 1 "" NA18507 nsv818326 5 18265888 18276508 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417525 S 112 1 0 "" NA18968 nsv508350 5 18271050 18338328 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622520 S 4 0 1 "" NA18994 esv2360674 5 18291428 18293320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652274 S 1 0 1 "" NA18507 esv268802 5 18293293 18293505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541043,essv2546560,essv2556797,essv2531926,essv2521870,essv2550783,essv2544552,essv2559569,essv2576331,essv2555135,essv2561917,essv2551854,essv2569814,essv2523866,essv2565909,essv2531115,essv2566847,essv2569115,essv2528013,essv2533862,essv2529595,essv2524282,essv2533315,essv2554608,essv2563106 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA10847,NA11831,NA11881,NA11994,NA12006,NA12144,NA12155,NA12414,NA12776,NA12814,NA12872,NA12874,NA18504,NA18520,NA18537,NA18572,NA18573,NA18853,NA18861,NA18907,NA18916,NA19093,NA19129 nsv881370 5 18308494 18412072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597604 S 6533 0 1 "" IS41224 nsv328120 5 18322585 18327399 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346698 M 24 "" esv23623 5 18379532 18382088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11937 S 451 0 1 "" NA18502 dgv5957n71 5 18392204 18720287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880893,nsv881269 M 6533 2 0 "" SP52055,SP57481 nsv880282 5 18432141 18554326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565782 S 6533 0 1 "" IS30522 nsv4749 5 18460734 18505930 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8078 S 9 0 1 "" NA12156 esv275506 5 18485406 18494295 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585316,essv2585735 M 1250 1 1 "" nsv881163 5 18520644 18724733 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527647 S 6533 0 1 "" SP80916 nsv461994 5 18528596 18583537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538295 S 1557 0 1 "" 1788485381_A nsv516047 5 18554326 18701259 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665879,nssv655389,nssv668218,nssv679737,nssv690688,nssv658832,nssv671155,nssv692267,nssv686649,nssv699673,nssv673798 M 2026 9 2 "" esv273546 5 18605895 18606230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582124,essv2582705,essv2583147 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv267865 5 18605896 18606229 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565734,essv2541079,essv2546152,essv2526298,essv2536413,essv2522766,essv2543863,essv2556770,essv2568067,essv2523329,essv2531885,essv2548337,essv2521860,essv2576666,essv2550826,essv2525350,essv2535470,essv2552192,essv2558383,essv2564577,essv2578063,essv2553716,essv2559601,essv2565420,essv2576149,essv2520236,essv2564232,essv2555054,essv2530598,essv2561741,essv2537550,essv2528641,essv2546898,essv2569318,essv2544697,essv2541115,essv2542690,essv2524322,essv2539846,essv2559952,essv2566199,essv2531106,essv2532503,essv2567869,essv2570137,essv2563760,essv2572448,essv2559149,essv2555959,essv2534372,essv2522622,essv2573309,essv2571909,essv2526883,essv2545190,essv2535973,essv2537804,essv2548925,essv2533236,essv2554462,essv2547849,essv2524783,essv2563408,essv2557813 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11918,NA11920,NA11931,NA11992,NA11994,NA11995,NA12004,NA12006,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12489,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18508,NA18526,NA18545,NA18550,NA18555,NA18563,NA18570,NA18572,NA18573,NA18576,NA18577,NA18593,NA18603,NA18609,NA18638,NA18956,NA18959,NA18960,NA18969,NA18973,NA19005,NA19172 dgv5958n71 5 18637226 18733785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880823,nsv881013,nsv881633 M 6533 0 3 "" IS36170,IS39011,SP57925 dgv5959n71 5 18637226 18767817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881389,nsv881271,nsv880547,nsv880899 M 6533 0 4 "" IS30522,IS35145,MS18620,SP51345 esv1000836 5 18673327 18678381 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565125 S 3 1 0 "" HuRef dgv5960n71 5 18691010 18759225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881189,nsv881471,nsv880799 M 6533 0 3 "" IS35498,IS37059,MS18847 esv2422186 5 18692894 19240582 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161406 S 181 0 1 "" ND01705 dgv693n27 5 18700907 18762773 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv461996,nsv461998 M 1557 0 2 "" 1780854566_A,1782681169_A nsv461997 5 18712631 18732591 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538298 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00689 nsv470995 5 18712631 18764837 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545096 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 dgv336n21 5 18712631 18774054 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523077,nsv524117 M 2026 0 2 "" nsv880370 5 18724873 18749965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503106 S 6533 0 1 "" SP51486 nsv880288 5 18724873 18789277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509457 S 6533 0 1 "" SP54792 dgv5961n71 5 18782579 19012718 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880385,nsv881393,nsv881293 M 6533 0 3 "" IS35083,SP50661,SP51057 esv1094584 5 18798429 18798429 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711028 S 2 1 0 "" HuRef nsv881551 5 18819587 19174611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501226 S 6533 0 1 "" SP50915 nsv524375 5 18828325 18830805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700287 S 2026 0 1 "" nsv880361 5 18828325 18920294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567846 S 6533 0 1 "" IS31166 nsv461999 5 18834802 18903535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538300 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00169 dgv5962n71 5 18839558 19006228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880629,nsv881615,nsv881637,nsv881279,nsv880816 M 6533 0 6 "" IS30742,IS31205,IS32166,IS39011,IS41043,MS20872 nsv880630 5 18853700 18917455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586285,nssv1582941 M 6533 0 2 "" IS36219,IS37730 nsv881479 5 18875429 18903325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513078 S 6533 0 1 "" SP55683 dgv5963n71 5 18875429 18980018 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881396,nsv881197,nsv881543,nsv881295 M 6533 0 7 "" IS31228,IS31581,IS32015,IS33839,IS34489,IS35743,MS17114 nsv470996 5 18888158 18932881 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545097 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv525528 5 18888158 19000599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701663 S 2026 0 1 "" esv27671 5 18909031 18910797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20213 S 451 0 7 "" NA07037,NA11894,NA12749,NA18505,NA18523,NA18861,NA19240 esv988413 5 18909069 18910603 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583773 S 3 0 1 "" HuRef nsv328512 5 18909070 18910604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347090 M 24 "" esv988748 5 18909098 18910768 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586344 S 3 0 1 "" HuRef esv1004554 5 18909838 18910551 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587144 S 3 0 1 "" HuRef nsv823018 5 18909838 18910551 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424198,nssv1426646 M 31 0 2 "" AK6,NA18582 nsv880365 5 18918357 19012718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530146 S 6533 0 1 "" MS10226 nsv7369 5 18943383 26686481 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10441 S 9 0 0 CDH10,CDH12,CDH18,GUSBP1,LOC340107,PMCHL1,PRDM9 NA18956 dgv5964n71 5 18945432 19077525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880528,nsv880634 M 6533 0 3 "" MS17674,SP53344,SP53531 nsv4750 5 18953946 18987227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4822 S 9 1 0 "" NA19129 esv29796 5 18957294 18957757 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18258 S 451 2 0 "" NA07045,NA12004 esv269565 5 18994168 18994322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496676,essv2511193,essv2500199,essv2493351,essv2504249,essv2503009,essv2506131,essv2498426,essv2505869,essv2495698,essv2504968,essv2503174,essv2503493,essv2512360,essv2493056,essv2500499,essv2506739,essv2499751,essv2503870 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11894,NA11931,NA12006,NA12776,NA18505,NA18507,NA18523,NA18858,NA18861,NA18916,NA18942,NA18943,NA18947,NA18949,NA18951,NA18956,NA19108,NA19225 nsv830221 5 19000539 19174493 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444277 S 95 0 1 "" nsv462000 5 19021859 19273462 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538301 S 1557 0 1 "" NINDS_91 nsv462001 5 19042979 19095543 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538302 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01019 nsv881311 5 19045765 19191543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564708 S 6533 0 1 "" IS30288 dgv1774e1 5 19066044 19245996 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv348,essv3561 M 271 0 0 "" NA18965 nsv880841 5 19163284 19237824 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523211 S 6533 1 0 "" SP53776 nsv881005 5 19163284 19273462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547991 S 6533 0 1 "" MS17674 esv994251 5 19192778 19193940 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587076 S 3 0 1 "" HuRef nsv527109 5 19213222 19276640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703491 S 2026 0 1 "" nsv830222 5 19221626 19398945 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444278 S 95 1 0 "" nsv881044 5 19231424 19363760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587385 S 6533 0 1 "" IS38031 nsv4751 5 19232410 19280609 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9658 S 9 0 1 "" NA18507 esv2471151 5 19255193 19268060 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219547 S 1 0 1 "" NA18507 nsv436462 5 19255582 19267986 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466203 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1525061 5 19256234 19256673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685548 S 2 0 1 "" HuRef esv1404117 5 19257703 19257703 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048358 S 2 1 0 "" HuRef nsv514293 5 19257910 19264270 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627735 S 1414 0 1 "" esv2519612 5 19258051 19268488 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195677 S 1 0 1 "" NA18507 esv1927955 5 19258640 19268043 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651428 S 1 0 1 "" NA18507 esv25636 5 19258846 19267989 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19026 S 451 0 4 "" NA18505,NA18508,NA19147,NA19257 nsv514294 5 19264670 19266740 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627738 S 1414 0 1 "" nsv441942 5 19264698 19267049 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv830223 5 19274658 19454952 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444279 S 95 0 1 "" esv2627533 5 19308606 19310060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274873 S 1 0 1 "" NA18507 esv29776 5 19313683 19323393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16046 S 451 0 2 "" NA19108,NA19240 esv2422145 5 19315328 19323214 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5108451,essv5063781,essv5021463,essv5072747,essv5110558,essv5017265,essv5121754,essv5026035,essv5138087,essv5010426,essv5024468,essv5077103,essv5149370,essv5036367,essv5094023,essv5144493,essv5071029,essv5111064,essv5149641,essv5044763,essv5089274,essv5051367,essv5089791,essv5147729 M 1184 0 24 "" NA18859,NA18860,NA18874,NA18875,NA18913,NA18914,NA19108,NA19109,NA19175,NA19193,NA19238,NA19240,NA19248,NA19249,NA19457,NA19908,NA19919,NA19982,NA19983,NA20281,NA20295,NA20363,NA21356,NA21359 nsv441943 5 19315328 19323214 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514295 5 19315764 19323180 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627739 S 1414 0 1 "" nsv880581 5 19327647 19394860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574433 S 6533 0 1 "" IS33566 esv273826 5 19362131 19362409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579385 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268021 5 19362138 19362223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516272,essv2516894,essv2513994 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19143 esv275444 5 19400437 19401738 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585991 S 1250 0 1 "" nsv10675 5 19410189 19412365 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14593,nssv13016,nssv15390,nssv13474,nssv13739,nssv14691,nssv12455,nssv14517,nssv15323,nssv12782,nssv13345,nssv12907,nssv12945,nssv14834,nssv12682,nssv13160,nssv12139,nssv13338,nssv12341,nssv12887 M 31 15 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA11830,NA12872,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19173,NA19221 esv24341 5 19410578 19412168 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11170,esv10856,esv12634 M 451 12 5 "" NA11894,NA11931,NA11993,NA11995,NA12044,NA12239,NA12287,NA12749,NA12776,NA15510,NA18505,NA18508,NA18909,NA19099,NA19114,NA19129,NA19147 nsv823019 5 19410578 19412266 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426298,nssv1422590,nssv1421694,nssv1423387,nssv1432848,nssv1424199,nssv1433638,nssv1438134,nssv1425908 M 31 0 9 "" NA18526,NA18552,NA18582,NA18947,NA18951,NA18968,NA18972,NA18997,NA18999 nsv819314 5 19410603 19412139 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419279 S 2 1 0 "" AK1 nsv513225 5 19410876 19413100 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626728 S 1 0 1 "" 1 nsv821283 5 19411003 19412266 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420503 S 1 0 1 "" NA10851 nsv471741 5 19411052 19412164 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646022 M 1.156 95 "" nsv823021 5 19411124 19412109 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437432 S 31 0 1 "" NA18949 nsv511298 5 19411518 19412587 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625210 S 1 0 1 "" 1 esv2421953 5 19411830 19412007 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5004705,essv5067663,essv5160694,essv5111667,essv5030678,essv5067882,essv5013819,essv5056537,essv5098780,essv5016595,essv5139769,essv5055271,essv5085117,essv5066894,essv5158508,essv5024258,essv5139850,essv5009492,essv5120098,essv5087546,essv5115081,essv5156219,essv5143606,essv5044820,essv5054569,essv5132815,essv5103823,essv5036601,essv5055759,essv5036586,essv5020874,essv5086508,essv5062645,essv5100520,essv5161083,essv5111252,essv5094908,essv5070772,essv5025332,essv5047587,essv5078544,essv5148620,essv5055485,essv5154467,essv5079270,essv5121634,essv5078014,essv5140835,essv5150194,essv5031347,essv5108219,essv5062844,essv5111649,essv5107733,essv5122169,essv5099868,essv5074766,essv5113727,essv5010507,essv5157876,essv5067723,essv5157763,essv5062298,essv5067589,essv5096632,essv5090266,essv5066774,essv5086109,essv5160039,essv5082556,essv5130661,essv5056819,essv5037292,essv5058720,essv5019736,essv5054547,essv5115548,essv5101592,essv5058963,essv5086228,essv5116312,essv5050074,essv5119849,essv5148398,essv5100168,essv5002433,essv5009647,essv5058864,essv5079031,essv5084273,essv5127977,essv5040867,essv5048014,essv5043613,essv5144696,essv5005347,essv5111982,essv5035100,essv5063762,essv5012269,essv5125869,essv5131446,essv5051527,essv5155641,essv5113196,essv5074612,essv5022443,essv5025111,essv5153693,essv5059271,essv5128415,essv5054211,essv5144214,essv5085009,essv5090259,essv5007153,essv5097573,essv5112985,essv5028228,essv5012279,essv5150839,essv5128849,essv5108632,essv5047438,essv5098126,essv5033376,essv5063249,essv5096066,essv5062901,essv5117039,essv5071544,essv5081446,essv5064171,essv5094188,essv5160311,essv5055166,essv5081572,essv5102621,essv5051256,essv5111541,essv5014547,essv5088541,essv5122289,essv5002664,essv5027878,essv5016888,essv5101969,essv5154463,essv5060558,essv5121005,essv5092178,essv5153528,essv5105995,essv5065872,essv5089145,essv5040028,essv5045507,essv5066011,essv5037665,essv5038942,essv5130502,essv5012681,essv5149425,essv5021333,essv5142561,essv5052954,essv5116050,essv5032383,essv5047067,essv5017323,essv5157260,essv5061299,essv5145755,essv5153604,essv5007144,essv5112767,essv5019334,essv5109657,essv5040922,essv5069418,essv5071825,essv5067598,essv5102331,essv5134075,essv5024941,essv5150107,essv5047700,essv5150756,essv5037407,essv5153602,essv5006359,essv5105444,essv5036483,essv5117632,essv5036407,essv5062945,essv5027820,essv5141329,essv5116123,essv5135487,essv5037825,essv5107993,essv5108089,essv5078116,essv5050077,essv5026944,essv5121010,essv5026378,essv5147538,essv5148275,essv5081334,essv5140769,essv5104390,essv5101366,essv5150088,essv5157379,essv5036015,essv5075289,essv5152872,essv5016254,essv5023059,essv5046508,essv5054360,essv5110585,essv5102849,essv5074024,essv5129404,essv5086634,essv5115511,essv5144980,essv5031768,essv5060381,essv5092331,essv5015934,essv5028833,essv5006872,essv5028744,essv5085681,essv5106410,essv5143901,essv5068251,essv5136231,essv5039843,essv5075015,essv5103294,essv5016903,essv5077214,essv5159375,essv5051536,essv5133814,essv5035798,essv5144469,essv5005054,essv5159614,essv5001940,essv5157404,essv5121932,essv5040654,essv5129331,essv5015043,essv5093940,essv5084089,essv5134348,essv5100050,essv5002629,essv5125156,essv5137286,essv5004251,essv5067995,essv5007732,essv5092537,essv5022842,essv5063152,essv5145984,essv5045804,essv5053236,essv5121307,essv5005327,essv5087264,essv5028058,essv5153858,essv5108475,essv5066025,essv5147406,essv5057004,essv5042134,essv5125860,essv5109929,essv5051865,essv5147565,essv5032095,essv5013091,essv5014027,essv5031119,essv5049247,essv5108473,essv5025055,essv5102488,essv5001953,essv5137217,essv5079200,essv5154904,essv5052210,essv5109457,essv5077805,essv5146780,essv5095127,essv5063727,essv5099487,essv5033317,essv5038363,essv5124145,essv5044983,essv5128837,essv5115934,essv5021581,essv5039380,essv5033944,essv5066901,essv5003643,essv5149997,essv5147896,essv5134688,essv5159277,essv5054172,essv5043249,essv5006002,essv5099088,essv5158557,essv5127079,essv5011728,essv5011054,essv5119756,essv5140118,essv5064120,essv5118969,essv5083850,essv5064901,essv5123760,essv5037359,essv5041316,essv5055610,essv5116538,essv5037100,essv5115089,essv5039200,essv5003721,essv5063730,essv5084311,essv5053465,essv5128877,essv5128467,essv5023983,essv5034177,essv5146427,essv5113719,essv5084339,essv5089379,essv5059043,essv5017414,essv5159597,essv5146749,essv5044149,essv5027817,essv5022715,essv5083897,essv5027616,essv5084276,essv5012885,essv5024650,essv5096766,essv5120004,essv5077218,essv5158022,essv5025550,essv5003954,essv5015255,essv5074424,essv5106961,essv5101547,essv5079350,essv5055034,essv5021491,essv5132840,essv5032425,essv5049348,essv5017693,essv5102663,essv5019937,essv5031993,essv5131536,essv5044951,essv5160775,essv5035009,essv5021951,essv5108710,essv5070813,essv5140632,essv5018556,essv5023812,essv5155935,essv5111501,essv5051730,essv5152425,essv5044927,essv5062375,essv5037581,essv5116302,essv5143837,essv5116890,essv5102658,essv5035946,essv5129422,essv5029719,essv5086606,essv5020064,essv5144609,essv5155457,essv5094958,essv5039228,essv5088748,essv5011640,essv5046171,essv5054320,essv5114286,essv5127872,essv5099911,essv5035785,essv5093987,essv5108612,essv5107819,essv5018131,essv5139514,essv5014476,essv5072197,essv5016787,essv5123349,essv5032346,essv5116447,essv5008775,essv5125134,essv5099456,essv5032175,essv5125453,essv5055437,essv5017310,essv5111769,essv5019255,essv5151354,essv5009665,essv5055648,essv5147076,essv5112105,essv5100240,essv5043713,essv5142881,essv5123151,essv5060314,essv5139790,essv5011511,essv5045651,essv5066571,essv5016261,essv5058583,essv5133017,essv5087495,essv5128034,essv5120898,essv5136624,essv5039777,essv5087096,essv5150451,essv5053959,essv5110611,essv5008900,essv5102854,essv5013918,essv5059725,essv5144601,essv5124576,essv5139718,essv5016808,essv5113618,essv5111032,essv5050526,essv5015598,essv5095906,essv5134420,essv5149566,essv5107576,essv5061758,essv5110086,essv5124415,essv5039103,essv5023705,essv5031001,essv5006909,essv5044308,essv5040090,essv5065980,essv5059475,essv5029522,essv5014779,essv5151099,essv5024340,essv5029820,essv5012468,essv5013674,essv5025779,essv5055575,essv5056381,essv5134417,essv5006068,essv5003001,essv5062138,essv5079678,essv5059556,essv5051469,essv5048312,essv5042884,essv5014907,essv5031258,essv5052274,essv5097317,essv5143445,essv5054545,essv5094241,essv5009591,essv5022836,essv5095147,essv5060708,essv5066440,essv5080175,essv5037395,essv5094491,essv5063097,essv5063632,essv5129697,essv5018631,essv5150770,essv5035394,essv5155922,essv5142839,essv5120300,essv5037205,essv5068208,essv5121491,essv5062805,essv5127206,essv5116791,essv5155351,essv5051864,essv5127764,essv5035630,essv5054413,essv5134673,essv5074631,essv5033000,essv5128367,essv5147399,essv5126164,essv5033224,essv5143133,essv5020384,essv5087487,essv5089295,essv5056942,essv5114658,essv5030182,essv5021926,essv5081465,essv5085997,essv5012984,essv5044048,essv5102724,essv5016945,essv5143820,essv5069017,essv5039883,essv5024974,essv5082146,essv5138266,essv5136927,essv5055956,essv5083183,essv5098274,essv5148643,essv5151379,essv5055280,essv5129322,essv5128205,essv5027333,essv5064975,essv5062864,essv5024729,essv5156386,essv5122176,essv5095191,essv5117858,essv5086096,essv5039656,essv5094987,essv5108060,essv5085478,essv5130595,essv5003822,essv5005627,essv5060857,essv5105204,essv5031275,essv5141401,essv5006241,essv5074464,essv5110099,essv5080992,essv5067628,essv5147895,essv5035193,essv5026737,essv5157440,essv5150680,essv5141850,essv5012185,essv5013259,essv5074847,essv5023231,essv5126722,essv5086044,essv5036745,essv5159392,essv5140558,essv5020494,essv5100031,essv5154549,essv5114938,essv5064685,essv5049543,essv5079593,essv5084474,essv5108573,essv5067374,essv5047733,essv5100414,essv5113491,essv5050672,essv5090075,essv5030188,essv5142687,essv5094860,essv5140645,essv5046797,essv5095632,essv5073558,essv5139733,essv5114221,essv5071914,essv5103945,essv5150513,essv5037617,essv5075457,essv5060791,essv5134148,essv5104577,essv5138914,essv5029776,essv5052372,essv5096201,essv5097854,essv5109721,essv5089819,essv5097400,essv5010436,essv5021723,essv5041393 M 1184 565 109 "" NA06984,NA06986,NA06994,NA06995,NA06997,NA07022,NA07029,NA07346,NA07349,NA07435,NA10837,NA10839,NA10845,NA10847,NA10850,NA10855,NA10856,NA10859,NA10864,NA11829,NA11830,NA11831,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11894,NA11917,NA11919,NA11920,NA11931,NA11993,NA11995,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12154,NA12239,NA12272,NA12273,NA12282,NA12283,NA12287,NA12335,NA12340,NA12341,NA12342,NA12348,NA12383,NA12399,NA12413,NA12489,NA12708,NA12716,NA12718,NA12739,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12777,NA12778,NA12812,NA12813,NA12814,NA12818,NA12830,NA12864,NA12865,NA12873,NA12874,NA12875,NA12877,NA12891,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17972,NA17974,NA17975,NA17976,NA17980,NA17981,NA17987,NA17989,NA17990,NA17993,NA17995,NA17996,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18108,NA18109,NA18112,NA18117,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18133,NA18134,NA18135,NA18139,NA18140,NA18141,NA18143,NA18144,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18160,NA18161,NA18162,NA18166,NA18486,NA18487,NA18489,NA18498,NA18500,NA18503,NA18504,NA18505,NA18506,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18532,NA18534,NA18536,NA18537,NA18543,NA18544,NA18545,NA18550,NA18555,NA18557,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18579,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18602,NA18605,NA18608,NA18610,NA18611,NA18613,NA18614,NA18616,NA18617,NA18618,NA18620,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18857,NA18858,NA18862,NA18863,NA18868,NA18870,NA18871,NA18872,NA18874,NA18875,NA18909,NA18910,NA18914,NA18925,NA18930,NA18933,NA18934,NA18939,NA18942,NA18943,NA18944,NA18946,NA18948,NA18949,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18991,NA18993,NA18994,NA18995,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19035,NA19041,NA19044,NA19054,NA19055,NA19056,NA19057,NA19060,NA19063,NA19066,NA19068,NA19072,NA19074,NA19077,NA19079,NA19081,NA19085,NA19086,NA19087,NA19096,NA19098,NA19099,NA19101,NA19102,NA19103,NA19117,NA19119,NA19120,NA19123,NA19127,NA19128,NA19129,NA19131,NA19132,NA19137,NA19138,NA19140,NA19146,NA19147,NA19148,NA19149,NA19153,NA19159,NA19171,NA19173,NA19175,NA19178,NA19179,NA19180,NA19181,NA19184,NA19185,NA19191,NA19198,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19213,NA19214,NA19221,NA19222,NA19226,NA19235,NA19236,NA19237,NA19238,NA19247,NA19249,NA19256,NA19257,NA19258,NA19310,NA19314,NA19315,NA19317,NA19328,NA19332,NA19346,NA19347,NA19350,NA19352,NA19371,NA19374,NA19375,NA19376,NA19377,NA19379,NA19383,NA19384,NA19385,NA19391,NA19394,NA19396,NA19397,NA19399,NA19403,NA19404,NA19428,NA19435,NA19436,NA19438,NA19440,NA19444,NA19446,NA19448,NA19449,NA19456,NA19462,NA19463,NA19466,NA19467,NA19472,NA19625,NA19649,NA19651,NA19652,NA19654,NA19656,NA19657,NA19660,NA19663,NA19669,NA19670,NA19671,NA19676,NA19685,NA19686,NA19700,NA19712,NA19714,NA19716,NA19721,NA19723,NA19724,NA19726,NA19746,NA19747,NA19749,NA19750,NA19751,NA19756,NA19757,NA19760,NA19763,NA19771,NA19777,NA19780,NA19781,NA19784,NA19790,NA19794,NA19818,NA19819,NA19834,NA19835,NA19900,NA19902,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19985,NA20129,NA20279,NA20281,NA20282,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20332,NA20333,NA20335,NA20337,NA20340,NA20341,NA20343,NA20348,NA20358,NA20359,NA20360,NA20363,NA20502,NA20508,NA20509,NA20515,NA20516,NA20519,NA20520,NA20521,NA20522,NA20524,NA20529,NA20530,NA20535,NA20539,NA20541,NA20542,NA20543,NA20544,NA20581,NA20586,NA20588,NA20589,NA20753,NA20757,NA20759,NA20760,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20775,NA20783,NA20785,NA20790,NA20795,NA20799,NA20801,NA20805,NA20807,NA20809,NA20810,NA20811,NA20813,NA20815,NA20828,NA20845,NA20851,NA20853,NA20859,NA20866,NA20869,NA20870,NA20872,NA20873,NA20877,NA20881,NA20882,NA20883,NA20885,NA20890,NA20891,NA20895,NA20896,NA20897,NA20900,NA20901,NA20903,NA20904,NA20907,NA20910,NA20911,NA21086,NA21089,NA21091,NA21092,NA21099,NA21100,NA21101,NA21102,NA21104,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21300,NA21307,NA21308,NA21309,NA21311,NA21312,NA21316,NA21317,NA21318,NA21336,NA21339,NA21344,NA21352,NA21353,NA21363,NA21364,NA21365,NA21366,NA21370,NA21379,NA21381,NA21382,NA21385,NA21391,NA21400,NA21401,NA21402,NA21403,NA21404,NA21415,NA21417,NA21420,NA21434,NA21435,NA21436,NA21439,NA21441,NA21442,NA21454,NA21475,NA21479,NA21485,NA21488,NA21489,NA21490,NA21493,NA21509,NA21510,NA21514,NA21519,NA21520,NA21522,NA21523,NA21525,NA21527,NA21528,NA21529,NA21573,NA21575,NA21576,NA21577,NA21578,NA21580,NA21596,NA21597,NA21600,NA21601,NA21608,NA21613,NA21616,NA21617,NA21619,NA21620,NA21631,NA21634,NA21636,NA21647,NA21648,NA21650,NA21689,NA21719,NA21722,NA21738,NA21784,NA21825 esv27834 5 19421136 19432014 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17767 S 451 1 0 "" NA19114 nsv881215 5 19430267 19477492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577872 S 6533 0 1 "" IS34599 nsv470997 5 19477492 19570562 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545099 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH18 HGDP00948 nsv4752 5 19485627 19518746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4823 S 9 1 0 CDH18 NA19129 esv275456 5 19494545 19498028 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585422 S 1250 0 1 "" nsv328677 5 19502114 19502175 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347255 M 24 "" nsv327508 5 19502176 19502237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346086 M 24 "" dgv5965n71 5 19515503 19588373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881420,nsv880409,nsv881510 M 6533 0 3 CDH18 IS39243,MS25617,SP55878 nsv881421 5 19532212 20083041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522807 S 6533 1 0 CDH18 SP53441 nsv881242 5 19556162 19609930 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532663 S 6533 0 1 CDH18 MS10802 nsv462002 5 19558926 19597571 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538303 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH18 HGDP00910 nsv830224 5 19581959 19758529 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444281,nssv1444280,nssv1444282 M 95 0 3 CDH18 esv8395 5 19690168 19690260 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30836 S 1 1 0 CDH18 SJK nsv880431 5 19691034 19772707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517739 S 6533 0 1 CDH18 SP57367 nsv881061 5 19732980 19772707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517623 S 6533 0 1 CDH18 SP57329 esv1636230 5 19885482 19885540 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177403 S 2 0 1 CDH18 HuRef esv1002274 5 19885493 19885580 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569539 S 3 0 1 CDH18 HuRef nsv328739 5 19885593 19885646 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347317 M 24 CDH18 esv2217776 5 19903332 19903735 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771002 S 1 0 1 CDH18 NA18507 esv2442104 5 19926430 19928037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177285 S 1 0 1 CDH18 NA18507 dgv5966n71 5 19928691 20046541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881386,nsv881068,nsv880968,nsv880511,nsv881284 M 6533 0 7 CDH18 IS36527,IS40067,MS18847,MS18978,MS19634,MS23670,SP54792 dgv5967n71 5 19946018 20016639 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880908,nsv880296 M 6533 0 3 CDH18 IS33558,MS18648,MS25751 esv2515726 5 19979428 19980960 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328223 S 1 0 1 CDH18 NA18507 nsv518192 5 19997357 20005983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695616 S 2026 0 1 CDH18 esv991722 5 20035173 20044849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565000 S 3 0 1 "" HuRef esv8380 5 20054620 20054972 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30821 S 1 0 1 "" SJK esv26956 5 20162961 20166880 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20075 S 451 0 1 "" NA18502 nsv4753 5 20230422 20263608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8079 S 9 1 0 "" NA12156 nsv830225 5 20396666 20592875 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444299,nssv1444289,nssv1444302,nssv1444300,nssv1444301,nssv1444283,nssv1444287,nssv1444285,nssv1444286,nssv1444290,nssv1444298,nssv1444291,nssv1444293,nssv1444294,nssv1444297,nssv1444292,nssv1444288 M 95 1 16 "" dgv5968n71 5 20428492 20498209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881350,nsv881260 M 6533 0 2 "" IS30311,MS20237 esv267635 5 20438588 20438814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510273,essv2511243,essv2512422,essv2510339,essv2509933,essv2496376,essv2496200,essv2512720,essv2495625,essv2503102,essv2512314,essv2493064,essv2505658,essv2504741,essv2506418,essv2497459 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12043,NA12414,NA18508,NA18510,NA18511,NA18577,NA18916,NA18943,NA18949,NA18951,NA19005,NA19099,NA19108,NA19147 nsv518092 5 20442822 20455966 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695504 S 2026 0 1 "" nsv10676 5 20454382 20464868 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14547,nssv14864 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19132 nsv516609 5 20455226 20455966 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658896,nssv656811,nssv669519 M 2026 0 3 "" esv27108 5 20455711 20464643 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14515 S 451 0 4 "" NA18517,NA18907,NA18909,NA19190 nsv525360 5 20465089 20474012 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701479 S 2026 1 0 "" nsv520215 5 20465089 20479457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697285 S 2026 0 1 "" nsv509962 5 20469827 20475827 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622083 S 4 0 1 "" NA10860 esv26518 5 20472720 20480111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20380 S 451 0 1 "" NA19225 dgv1775e1 5 20472731 20475648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8695,essv13381,essv8072 M 271 0 0 "" NA18912,NA19159,NA19161 dgv1776e1 5 20472731 20494555 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13498,esv1360,essv9584 M 271 0 0 "" NA18501,NA18914 nsv514296 5 20472946 20480042 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627740 S 1414 0 1 "" esv2422102 5 20472958 20480059 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5144507,essv5072822,essv5106340,essv5039675,essv5071913,essv5121864,essv5059137,essv5091502,essv5020707,essv5007188,essv5068675,essv5155331,essv5094377,essv5123666,essv5016613,essv5111391,essv5055014,essv5005242,essv5109019,essv5049776,essv5004425,essv5076754,essv5062825 M 1184 0 23 "" NA18485,NA18487,NA18501,NA18912,NA18914,NA18917,NA19036,NA19159,NA19161,NA19224,NA19225,NA19375,NA19376,NA19428,NA19444,NA19446,NA19467,NA19701,NA19702,NA19708,NA21320,NA21434,NA21597 nsv441944 5 20472958 20480059 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517689 5 20474012 20479457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693071,nssv667410,nssv663904,nssv671789,nssv675738,nssv685002,nssv690110,nssv652845,nssv696387,nssv656865,nssv693918,nssv673799 M 2026 0 12 "" nsv818327 5 20474012 20502121 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416729,nssv1416727 M 112 0 2 "" NA19159,NA19161 esv270533 5 20499032 20499251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511393,essv2505507,essv2495770,essv2503929,essv2511582 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA11920,NA12154 nsv471628 5 20499136 20677549 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549782,nssv549781,nssv549780 M 48 0 3 "" NA10469,NA10492,NA10496 esv2553113 5 20507282 20508353 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288831 S 1 1 0 "" NA18507 esv1394798 5 20507846 20507846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234324 S 2 1 0 "" HuRef nsv4754 5 20531026 20556098 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8080 S 9 1 0 "" NA12156 nsv327301 5 20537402 20537461 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345879 M 24 "" esv2468276 5 20592882 20594463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182114 S 1 0 1 "" NA18507 esv988327 5 20593712 20593849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581483 S 3 0 1 "" HuRef esv1661144 5 20593724 20593862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855016 S 2 0 1 "" HuRef esv993326 5 20609676 20609728 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585591 S 3 0 1 "" HuRef nsv329335 5 20609740 20609801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347913 M 24 "" nsv830227 5 20682261 20793419 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444303 S 95 1 0 "" nsv528936 5 20683492 20686228 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705627 S 2026 0 1 "" nsv521254 5 20683492 20814805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697870 S 2026 0 1 "" esv2643225 5 20730727 20828041 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220559 S 1 0 1 "" NA18507 nsv880878 5 20733682 20867890 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592611 S 6533 1 0 "" IS39243 nsv880986 5 20766249 20884745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564861 S 6533 0 1 "" IS30311 nsv507235 5 20838109 20844109 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620285,nssv617663,nssv621779 M 4 3 0 "" CHM,NA10860,NA15510 esv2655186 5 20842317 20867253 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382178 S 1 0 1 "" NA18507 nsv819977 5 20859734 20887015 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418709 S 2 0 1 "" AK1 dgv937n67 5 20868327 20870672 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823023,nsv823022 M 31 20 0 "" AK10,AK12,AK14,AK16,AK18,AK4,AK6,AK8,NA18542,NA18547,NA18552,NA18564,NA18566,NA18592,NA18949,NA18968,NA18969,NA18973,NA18997,NA18999 nsv821073 5 20868327 20870672 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420504 S 1 1 0 "" NA10851 nsv823024 5 20868327 20887689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437433 S 31 0 1 "" NA18949 esv26447 5 20868351 20870550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11343 S 451 0 7 "" NA06985,NA11931,NA12414,NA12489,NA15510,NA18861,NA19147 nsv823025 5 20868363 20873223 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439840 S 31 0 1 "" NA18547 esv2594069 5 20880094 20913581 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311687 S 1 0 1 "" NA18507 nsv880512 5 20945326 21083744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546120 S 6533 0 1 "" MS17114 esv990818 5 21003881 21014047 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564298 S 3 0 1 "" HuRef nsv880368 5 21005826 21051772 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578167 S 6533 0 1 "" IS34700 nsv881180 5 21018025 21097048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502882 S 6533 1 0 "" SP51439 nsv519714 5 21054584 21475697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694343 S 2026 0 1 "" nsv520196 5 21083744 21247195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697274 S 2026 0 1 "" nsv462005 5 21163415 21230492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538304 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00909 nsv823026 5 21178169 21179867 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432849,nssv1426311 M 31 0 2 "" NA18947,NA18972 dgv1777e1 5 21184910 21371517 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10479,essv16496,essv10369,essv2203,essv14588,essv21675,essv10163,essv11655,essv18858,essv13043,essv21041,essv6660,essv18123,essv21522,essv12552,essv24388,essv16074,essv9011 M 271 0 0 "" NA06991,NA11993,NA12248,NA12707,NA12751,NA12873,NA18501,NA18515,NA18608,NA18852,NA18960,NA19093,NA19098,NA19130,NA19132,NA19154,NA19210,NA19222 dgv1778e1 5 21184910 21634747 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18197,essv18946,essv23072,essv15128,essv22958,essv19983,essv22128,essv10789,essv9191,essv23972,essv19394,essv24855,essv17655,essv2788,essv19925,essv21183,essv16339,essv17515,essv15304,essv19524,essv19197,essv2317,essv18432,essv7412,essv21307,essv20678,essv23211,essv20621,essv17452,essv17238,essv18707,essv22208,essv21282 M 271 0 0 GUSBP1 NA07000,NA07048,NA07056,NA07357,NA10855,NA10857,NA11830,NA11831,NA11840,NA11881,NA12005,NA12043,NA12044,NA12057,NA12156,NA12716,NA12762,NA12812,NA12813,NA12864,NA12865,NA12874,NA12878,NA12892,NA18503,NA18523,NA18623,NA18862,NA18940,NA18987,NA19128,NA19129,NA19193 nsv428114 5 21184910 21634747 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450393,nssv450388,nssv450383,nssv450389,nssv450390,nssv450385,nssv450384,nssv450391,nssv450386,nssv450392 M 62 8 2 GUSBP1 HGDP00449,HGDP00460,HGDP00463,HGDP00467,HGDP00472,HGDP00984,HGDP01087,NA19096,NA19189,NA19257 dgv1779e1 5 21184910 21748947 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv134,essv22547 M 271 0 0 GUSBP1 NA07348 nsv509056 5 21224319 21243551 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620813 S 4 1 0 "" NA15510 nsv510914 5 21224319 21249510 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618645 S 4 0 0 "" CHM nsv881466 5 21230492 21330894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587956 S 6533 0 1 "" IS38143 nsv4756 5 21238791 21265262 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2688,nssv3335,nssv456 M 9 3 0 "" NA12878,NA18555,NA19240 esv1010953 5 21242342 21244276 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563697 S 3 1 0 "" HuRef esv271586 5 21243451 21243536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516722,essv2515290,essv2518637,essv2518004,essv2514433,essv2517702,essv2514004,essv2518310,essv2513756 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA12249,NA12287,NA12872,NA12874,NA12878,NA19143,NA19240 esv273809 5 21243451 21243536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581575,essv2581194 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv830228 5 21248643 21447642 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444308,nssv1444317,nssv1444323,nssv1444336,nssv1444312,nssv1444335,nssv1444316,nssv1444332,nssv1444322,nssv1444338,nssv1444319,nssv1444337,nssv1444304,nssv1444305,nssv1444320,nssv1444321,nssv1444306,nssv1444327,nssv1444328,nssv1444310,nssv1444324,nssv1444311,nssv1444326,nssv1444325,nssv1444309,nssv1444315,nssv1444331,nssv1444334,nssv1444314,nssv1444339,nssv1444333,nssv1444313,nssv1444330 M 95 33 0 "" nsv527297 5 21269945 21270729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703714 S 2026 0 1 "" nsv469877 5 21274736 21441545 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649898 M 265 17 1 Samples from several populations that are part of the HapMap project. "" nsv471629 5 21274737 21441545 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551130,nssv551122,nssv551125,nssv551123,nssv551127,nssv551124,nssv551128,nssv551121,nssv551120,nssv551129,nssv551126 M 48 10 1 "" JK1058,JK1061,JK776,NA10469,NA10470,NA10496,NA11323,NA15725,NA15729,NA15733,NA17017 esv21444 5 21304663 21427464 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14093 S 451 21 0 "" NA11993,NA12006,NA12044,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA19129,NA19190,NA19225 nsv10677 5 21306668 21428394 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14623,nssv12220,nssv14894,nssv12485,nssv12812,nssv14924,nssv14108,nssv14577,nssv13599,nssv12937,nssv12666,nssv13504 M 31 8 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA18504,NA18517,NA19132 esv2560258 5 21309355 21414827 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302853 S 1 0 1 "" NA18507 dgv5969n71 5 21309600 21427001 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880268,nsv881257 M 6533 3 0 "" IS33665,IS39243,MS16074 nsv821642 5 21330410 21391298 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421389 S 31 1 0 "" nsv830229 5 21370975 21565858 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444343,nssv1444342,nssv1444341 M 95 3 0 GUSBP1 dgv5970n71 5 21406541 21501141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881112,nsv881212 M 6533 0 3 GUSBP1 IS38143,MS14500,MS18552 dgv1780e1 5 21421490 21634747 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8827,essv1747,essv4376,essv8144,essv20906,essv341,essv10067,essv23581,essv10816,essv16798,essv17895,essv12206,essv16703,essv58,essv15485,essv11244 M 271 0 0 GUSBP1 NA12003,NA12006,NA12801,NA18505,NA18508,NA18573,NA18871,NA18872,NA18971,NA18991,NA18997,NA19099,NA19101,NA19142,NA19204,NA19206 dgv337n21 5 21468201 21475697 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521246,nsv523987 M 2026 0 2 "" nsv10678 5 21468716 21476175 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15420 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv32870 5 21473394 21475995 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99862 S 51 0 1 "" 22086 nsv469826 5 21477853 21648368 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649847 M 265 2 0 Samples from several populations that are part of the HapMap project. GUSBP1 nsv4757 5 21479901 21526476 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5986 S 9 0 1 GUSBP1 NA12156 nsv511291 5 21480154 21490081 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625132 S 1 1 0 "" 1 nsv10679 5 21480817 21488908 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15480,nssv12371,nssv14954,nssv12976,nssv14721,nssv12515,nssv13368,nssv12712,nssv12842,nssv13981,nssv13046,nssv12917,nssv12169,nssv14653 M 31 0 14 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA12872,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18860,NA18942,NA19007,NA19221,NA19240 nsv819765 5 21483396 21488089 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419653 S 2 0 1 "" AK1 nsv469821 5 21484252 21649982 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649842 M 265 0 0 Samples from several populations that are part of the HapMap project. GUSBP1 dgv938n67 5 21485744 21488275 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823027,nsv823029,nsv823028 M 31 0 23 "" AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18997 esv3993 5 21485876 21488321 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26434 S 1 0 1 Single Asian sample YH "" YH esv5747 5 21485918 21488231 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28188 S 1 0 1 "" SJK esv22726 5 21485958 21561508 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12347,esv15424,esv11682,esv14727,esv15768,esv18480 M 451 10 26 GUSBP1 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18861,NA19099,NA19108,NA19129,NA19147,NA19240,NA19257 esv33880 5 21485973 21487886 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98921,essv100695,essv96897,essv93138,essv97442,essv93711,essv96601,essv93427,essv97643 M 51 1 8 "" 21606,21656,21817,21863,21879,21972,22011,22128,22278 esv2421397 5 21486411 21488253 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5005133,essv5028238,essv5088311,essv5013385,essv5098043,essv5103312,essv5154826,essv5150318,essv5160376,essv5089505,essv5058551,essv5124876,essv5110017,essv5072216,essv5155883,essv5036369,essv5103351,essv5072864,essv5101319,essv5160437,essv5148087,essv5076532,essv5004702,essv5120555,essv5153874,essv5018677,essv5126585,essv5102737,essv5098523,essv5021656,essv5143650,essv5063695,essv5113180,essv5018013,essv5056133,essv5099162,essv5017430,essv5151685,essv5084694,essv5077078,essv5120996,essv5053328,essv5085409,essv5096439,essv5004011,essv5004224,essv5027640,essv5066773,essv5066424,essv5098528,essv5073613,essv5086122,essv5117020,essv5110561,essv5025742,essv5006638,essv5160351,essv5066089,essv5096875,essv5116183,essv5025158,essv5048467,essv5150873,essv5084498,essv5160041,essv5107211,essv5151180,essv5127896,essv5085815,essv5143245,essv5113131,essv5151243,essv5047199,essv5155115,essv5022672,essv5079480,essv5138450,essv5067436,essv5145525,essv5114583,essv5048984,essv5035191,essv5026773,essv5004588,essv5002859,essv5129676,essv5159777,essv5008379,essv5070365,essv5008635,essv5066527,essv5107768,essv5038214,essv5128203,essv5143094,essv5082323,essv5046609,essv5115267,essv5117226,essv5031857,essv5058336,essv5030035,essv5003708,essv5016380,essv5064757,essv5072479,essv5020424,essv5029250,essv5094506,essv5062528,essv5146922,essv5077642,essv5027237,essv5125322,essv5050979,essv5077849,essv5099789,essv5007295,essv5119548,essv5018812,essv5154953,essv5041409,essv5022553,essv5033328,essv5071221,essv5058310,essv5016240,essv5116493,essv5065178,essv5152369,essv5058247,essv5029018,essv5157018,essv5109517,essv5106159,essv5125451,essv5050250,essv5024251,essv5007132,essv5065214,essv5110843,essv5106217,essv5155205,essv5002305,essv5122200,essv5158044,essv5149118,essv5159396,essv5136808,essv5153519,essv5160111,essv5136917,essv5056703,essv5135258,essv5070787,essv5155954,essv5143321,essv5097266,essv5145826,essv5017994,essv5036543,essv5090348,essv5061488,essv5138312,essv5073075,essv5145235,essv5107084,essv5058853,essv5078930,essv5022137,essv5014844,essv5013472,essv5016660,essv5113004,essv5058526,essv5086589,essv5147630,essv5065493,essv5152862,essv5130543,essv5150905,essv5155340,essv5110139,essv5109627,essv5148480,essv5038426,essv5017718,essv5072675,essv5064472,essv5126462,essv5060562,essv5032046,essv5072103,essv5137971,essv5133182,essv5150227,essv5141305,essv5159162,essv5096440,essv5136023,essv5082043,essv5099014,essv5063617,essv5053792,essv5009976,essv5038374,essv5066596,essv5007598,essv5112871,essv5071841,essv5151980,essv5149880,essv5030111,essv5072939,essv5113172,essv5075818,essv5023612,essv5060604,essv5063104,essv5046327,essv5108140,essv5120728,essv5112078,essv5019002,essv5034440,essv5135266,essv5110851,essv5092022,essv5096759,essv5073616,essv5050442,essv5143069,essv5149015,essv5095652,essv5069151,essv5080184,essv5020951,essv5005397,essv5004132,essv5029053,essv5138513,essv5081892,essv5062591,essv5100493,essv5045473,essv5023610,essv5067993,essv5161025,essv5077081,essv5008834,essv5083053,essv5110520,essv5087156,essv5140901,essv5086897,essv5089248,essv5108117,essv5047743,essv5057658,essv5074709,essv5019064,essv5015557,essv5008751,essv5104189,essv5038717,essv5003947,essv5135333,essv5083136,essv5070900,essv5089691,essv5041970,essv5152085,essv5056434,essv5132490,essv5139289,essv5061181,essv5014400,essv5036965,essv5104630,essv5117009,essv5046499,essv5104643,essv5014156,essv5042812,essv5127940,essv5118911,essv5096752,essv5118337,essv5030726,essv5070972,essv5083858,essv5119573,essv5024503,essv5086304,essv5020224,essv5075764,essv5103046,essv5067419,essv5113775,essv5073027,essv5021485,essv5024536,essv5107961,essv5107963,essv5074787,essv5075342,essv5021707,essv5102068,essv5050433,essv5086123,essv5051091,essv5124744,essv5062233,essv5050113,essv5101317,essv5123689,essv5139864,essv5135001,essv5127188,essv5144001,essv5159508,essv5143109,essv5086725,essv5145265,essv5029202,essv5060589,essv5039225,essv5085193,essv5033458,essv5101326,essv5143410,essv5151599,essv5018708,essv5115979,essv5125009,essv5149331,essv5064935,essv5110836,essv5066724,essv5089624,essv5039165,essv5099291,essv5137230,essv5133219,essv5115782,essv5089824,essv5124595,essv5104993,essv5146537,essv5073042,essv5108799,essv5085946,essv5086223,essv5065165,essv5027470,essv5015032,essv5066157,essv5034673,essv5112932,essv5074608,essv5004342,essv5043449,essv5008484,essv5133975,essv5063490,essv5059445,essv5074615,essv5015345,essv5059664,essv5132828,essv5019165,essv5118779,essv5157384,essv5160649,essv5068082,essv5011078,essv5077935,essv5152058,essv5140654,essv5099917,essv5016523,essv5160184,essv5055576,essv5102201,essv5003466,essv5067705,essv5151854,essv5086641,essv5029855,essv5062209,essv5131501,essv5130244,essv5051437,essv5118017,essv5121653,essv5066592,essv5121540,essv5037093,essv5016328,essv5053661,essv5082200,essv5105417,essv5003443,essv5152505,essv5003882,essv5146050,essv5037966,essv5059394,essv5072956,essv5063748,essv5022797,essv5074346,essv5014937,essv5004821,essv5035948,essv5081125,essv5034610,essv5128580,essv5056227,essv5135493,essv5025639,essv5067369,essv5127115,essv5144682,essv5126080,essv5023564,essv5052821,essv5035886,essv5071412,essv5044991,essv5133759,essv5131665,essv5043194,essv5065957,essv5025524,essv5160681,essv5067686,essv5050533,essv5134176,essv5010000,essv5139819,essv5061866,essv5025482,essv5006424,essv5061186,essv5098857,essv5130921,essv5102968,essv5111743,essv5137030,essv5010352,essv5145104,essv5077070,essv5078663,essv5073233,essv5117373,essv5108001,essv5007629,essv5135961,essv5078749,essv5142104,essv5106884,essv5081181,essv5014309,essv5054286,essv5148267,essv5076697,essv5018065,essv5087626,essv5114998,essv5046066,essv5139868,essv5036696,essv5043754,essv5089554,essv5123675,essv5083872,essv5071060,essv5097357,essv5140156,essv5043647,essv5007571,essv5137198,essv5123010,essv5129836,essv5121370,essv5091050,essv5033171,essv5132017,essv5135610,essv5121065,essv5089343,essv5128009,essv5159677,essv5114467,essv5080911,essv5005850,essv5115350,essv5153985,essv5119915,essv5014323,essv5090001,essv5101780,essv5068061,essv5026948,essv5084148,essv5110747,essv5146914,essv5068176,essv5089320,essv5078369,essv5113014,essv5032806,essv5074234,essv5021460,essv5103491,essv5048995,essv5072101,essv5026528,essv5030495,essv5026270,essv5090048,essv5003532,essv5145549,essv5090345,essv5075245,essv5026049,essv5103776,essv5135680,essv5021483,essv5066187,essv5063044,essv5128913,essv5047486,essv5046187,essv5128930,essv5006713,essv5028434,essv5077225,essv5025416,essv5067492,essv5041646,essv5043646,essv5035314,essv5037541,essv5027568,essv5076124,essv5155879,essv5033406,essv5143037,essv5136561,essv5111859,essv5072526,essv5074172,essv5065494,essv5018953,essv5147051,essv5036160,essv5013263,essv5109134,essv5098797,essv5045937,essv5150695,essv5145298,essv5048570,essv5107393,essv5101621,essv5112668,essv5073504,essv5032083,essv5149209,essv5066411,essv5084091,essv5037147,essv5158915,essv5073591,essv5131365,essv5103192,essv5003370,essv5136065,essv5155046,essv5107891,essv5017042,essv5119901,essv5041908,essv5103520,essv5087837,essv5142013,essv5124056,essv5062303,essv5104928,essv5051495,essv5065764,essv5133167,essv5048215,essv5155955,essv5144422,essv5113666,essv5070978,essv5037710,essv5154075,essv5059891,essv5058285,essv5089063,essv5057063,essv5061745,essv5081355,essv5030990,essv5050027,essv5142472,essv5105790,essv5127683,essv5118546,essv5119696,essv5062406,essv5134051,essv5096836,essv5134722,essv5066023,essv5159318,essv5053249,essv5045121,essv5027032,essv5150177,essv5139753,essv5108164,essv5070946,essv5006354,essv5118637,essv5074774,essv5015382,essv5008944,essv5141300,essv5013274,essv5082414,essv5118253,essv5101086,essv5028922,essv5134373,essv5127939,essv5015649,essv5095245,essv5064575,essv5021209,essv5032339,essv5140194,essv5053610,essv5114324,essv5089634,essv5109716,essv5158197,essv5068050,essv5091162,essv5150687,essv5102510,essv5103150,essv5051777,essv5082031,essv5033652,essv5159177,essv5027483,essv5100909,essv5135676,essv5138558,essv5157810,essv5041783,essv5072501,essv5023648,essv5007990,essv5090294,essv5157063,essv5082456,essv5042073,essv5158227,essv5024291,essv5086519,essv5141481,essv5020306,essv5089284,essv5143330 M 1184 0 680 "" NA06984,NA06986,NA06989,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07037,NA07045,NA07051,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10837,NA10838,NA10840,NA10843,NA10847,NA10850,NA10853,NA10854,NA10859,NA10864,NA10865,NA11839,NA11840,NA11843,NA11881,NA11891,NA11892,NA11893,NA11919,NA11993,NA11994,NA11995,NA12005,NA12006,NA12043,NA12045,NA12056,NA12057,NA12146,NA12156,NA12248,NA12249,NA12272,NA12273,NA12275,NA12282,NA12286,NA12287,NA12336,NA12341,NA12343,NA12344,NA12347,NA12348,NA12413,NA12707,NA12716,NA12748,NA12749,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12777,NA12801,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12864,NA12865,NA12872,NA12874,NA12875,NA12878,NA12891,NA12892,NA17962,NA17965,NA17966,NA17969,NA17970,NA17972,NA17974,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA18101,NA18106,NA18107,NA18108,NA18109,NA18117,NA18118,NA18120,NA18127,NA18128,NA18129,NA18131,NA18132,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18153,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18484,NA18486,NA18488,NA18498,NA18503,NA18504,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18532,NA18536,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18557,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18594,NA18596,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18624,NA18626,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18704,NA18745,NA18747,NA18749,NA18757,NA18857,NA18859,NA18860,NA18861,NA18863,NA18867,NA18869,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18913,NA18914,NA18923,NA18933,NA18939,NA18940,NA18942,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18962,NA18964,NA18966,NA18967,NA18970,NA18971,NA18973,NA18974,NA18976,NA18977,NA18978,NA18981,NA18987,NA18991,NA18993,NA18994,NA18995,NA18997,NA19000,NA19002,NA19007,NA19009,NA19010,NA19031,NA19041,NA19044,NA19046,NA19054,NA19055,NA19059,NA19060,NA19063,NA19066,NA19067,NA19074,NA19075,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19093,NA19094,NA19098,NA19099,NA19101,NA19107,NA19108,NA19109,NA19113,NA19115,NA19122,NA19123,NA19128,NA19129,NA19137,NA19139,NA19140,NA19147,NA19149,NA19151,NA19152,NA19171,NA19172,NA19176,NA19178,NA19180,NA19181,NA19183,NA19185,NA19186,NA19189,NA19191,NA19193,NA19194,NA19197,NA19200,NA19203,NA19207,NA19209,NA19210,NA19211,NA19213,NA19214,NA19221,NA19223,NA19238,NA19240,NA19247,NA19248,NA19249,NA19257,NA19258,NA19307,NA19309,NA19310,NA19311,NA19316,NA19319,NA19324,NA19327,NA19332,NA19334,NA19347,NA19350,NA19352,NA19359,NA19372,NA19377,NA19379,NA19380,NA19382,NA19383,NA19385,NA19390,NA19394,NA19396,NA19397,NA19404,NA19428,NA19431,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19445,NA19448,NA19462,NA19468,NA19469,NA19470,NA19472,NA19474,NA19625,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19658,NA19660,NA19662,NA19664,NA19665,NA19669,NA19670,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19701,NA19702,NA19703,NA19708,NA19716,NA19718,NA19719,NA19720,NA19721,NA19725,NA19726,NA19727,NA19746,NA19750,NA19755,NA19756,NA19757,NA19759,NA19761,NA19770,NA19774,NA19776,NA19778,NA19782,NA19783,NA19784,NA19789,NA19819,NA19835,NA19901,NA19908,NA19914,NA19915,NA19916,NA19917,NA19921,NA20127,NA20276,NA20279,NA20287,NA20288,NA20291,NA20294,NA20295,NA20300,NA20317,NA20319,NA20322,NA20332,NA20333,NA20335,NA20340,NA20344,NA20345,NA20348,NA20349,NA20350,NA20360,NA20504,NA20505,NA20506,NA20509,NA20510,NA20512,NA20516,NA20517,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20528,NA20534,NA20535,NA20540,NA20541,NA20581,NA20589,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20761,NA20765,NA20768,NA20772,NA20774,NA20778,NA20783,NA20786,NA20787,NA20792,NA20795,NA20799,NA20800,NA20802,NA20805,NA20806,NA20809,NA20811,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20852,NA20853,NA20854,NA20858,NA20866,NA20869,NA20870,NA20871,NA20872,NA20874,NA20876,NA20879,NA20885,NA20891,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA21086,NA21088,NA21089,NA21091,NA21094,NA21098,NA21099,NA21100,NA21102,NA21105,NA21106,NA21107,NA21112,NA21116,NA21117,NA21137,NA21143,NA21144,NA21295,NA21307,NA21309,NA21312,NA21313,NA21318,NA21333,NA21336,NA21339,NA21344,NA21355,NA21362,NA21363,NA21364,NA21366,NA21367,NA21370,NA21378,NA21382,NA21384,NA21386,NA21387,NA21388,NA21389,NA21408,NA21414,NA21417,NA21418,NA21420,NA21421,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21441,NA21451,NA21453,NA21473,NA21476,NA21479,NA21480,NA21486,NA21491,NA21493,NA21494,NA21512,NA21514,NA21517,NA21519,NA21521,NA21522,NA21526,NA21527,NA21528,NA21529,NA21573,NA21577,NA21587,NA21596,NA21597,NA21599,NA21611,NA21617,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21678,NA21682,NA21683,NA21685,NA21689,NA21719,NA21723,NA21738,NA21740,NA21741,NA21768,NA21776,NA21784 nsv469672 5 21493963 21634747 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649602 M 265 11 0 Samples from several populations that are part of the HapMap project. GUSBP1 dgv1781e1 5 21493964 21634747 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv841,essv10156,essv10290,essv21388,essv21008 M 271 0 0 GUSBP1 NA06991,NA12740,NA18506,NA18973,NA19130 nsv4758 5 21505095 21520832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3336,nssv10443,nssv9659,nssv10442,nssv9406,nssv4824,nssv5987,nssv457 M 9 7 0 GUSBP1 NA12156,NA12878,NA18507,NA18517,NA18956,NA19129,NA19240 nsv509057 5 21512552 21512552 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623439 S 4 1 0 GUSBP1 NA18994 nsv10680 5 21513105 21533694 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13006,nssv12250,nssv14138,nssv15510,nssv13629,nssv15353,nssv14607,nssv12696 M 31 0 8 Samples from several populations that are part of the HapMap project. GUSBP1 NA10863,NA12155,NA12740,NA12802,NA18552,NA18972,NA19132,NA19221 nsv821602 5 21513326 21533092 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420505 S 1 1 0 GUSBP1 NA10851 nsv515022 5 21513682 21519542 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627024 S 1414 0 0 GUSBP1 nsv436883 5 21515932 21530528 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466204 S 2 1 0 Samples from several populations that are part of the HapMap project. GUSBP1 NA18505 esv1399308 5 21517767 21518583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913826 S 2 0 1 GUSBP1 HuRef nsv4759 5 21522041 21549078 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11102,nssv9660,nssv458,nssv10445,nssv11100,nssv10444,nssv2511,nssv4825 M 9 6 0 GUSBP1 NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv267 5 21522510 21523359 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv267 S 1 1 0 GUSBP1 NA15510 nsv268 5 21527860 21529394 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv268 S 1 1 0 GUSBP1 NA15510 nsv10681 5 21538825 21557743 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12726,nssv13563,nssv12975,nssv13036,nssv12872,nssv14168 M 31 5 1 Samples from several populations that are part of the HapMap project. GUSBP1 NA07029,NA07048,NA10863,NA12155,NA18537,NA18552 nsv880808 5 21556703 21640163 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503425 S 6533 1 0 GUSBP1 SP52055 esv2479396 5 21562607 21608391 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5394127 S 1 1 0 GUSBP1 NA18507 esv2131549 5 21578648 21579131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708726 S 1 0 1 GUSBP1 NA18507 esv1123770 5 21578810 21578984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029029 S 2 0 1 GUSBP1 HuRef nsv880837 5 21590207 22039960 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519392 S 6533 1 0 CDH12,GUSBP1 SP81014 dgv939n67 5 21597562 21602088 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823033,nsv823030 M 31 0 2 GUSBP1 NA18947,NA18972 dgv5971n71 5 21622740 21728746 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881531,nsv880468 M 6533 0 2 GUSBP1 IS31259,IS35742 nsv526440 5 21642274 21649635 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702743 S 2026 0 1 "" nsv10682 5 21646672 21652813 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14472,nssv12545 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA18502 esv29082 5 21648363 21650531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11640 S 451 0 4 "" NA12006,NA12156,NA12776,NA18502 nsv823034 5 21685240 21687003 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425930,nssv1436603 M 31 0 2 "" NA18542,NA18968 esv2628634 5 21687044 21688816 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276886 S 1 0 1 "" NA18507 esv2002524 5 21687140 21687842 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541062 S 1 0 1 "" NA18507 esv3897 5 21687235 21687821 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26338 S 1 0 1 Single Asian sample YH "" YH dgv192n6 5 21687326 21687663 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329864,nsv329089 M 24 "" esv6771 5 21687345 21687666 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29212 S 1 0 1 "" SJK nsv462008 5 21691832 21723134 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538306 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01239 nsv881246 5 21704623 21754685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594591 S 6533 0 1 "" IS39944 nsv4760 5 21719593 21753115 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2689 S 9 1 0 "" NA18555 nsv881330 5 21763249 21980430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579543 S 6533 0 1 CDH12 IS35129 nsv880342 5 21796488 21918998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568781 S 6533 0 1 CDH12 IS31338 dgv1782e1 5 21814498 21999576 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1244,essv13859 M 271 0 0 CDH12 NA18854,NA18995 nsv428115 5 21814498 22126275 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450402,nssv450397,nssv450400,nssv450395,nssv450401,nssv450399,nssv450394,nssv450396 M 62 7 1 CDH12 HGDP00449,HGDP00463,HGDP00467,HGDP00472,HGDP00986,HGDP01087,NA19096,NA19257 dgv1783e1 5 21814498 22199675 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7349,essv7006,essv24464,essv5184,essv22230,essv660,essv20317,essv19163,essv18207,essv5410,essv18373,essv21213,essv552,essv10757,essv24364,essv21261,essv22575,essv2521,essv23396,essv1375,essv21817,essv10847,essv7096,essv7747,essv24779,essv23260,essv13580,essv22121,essv13103,essv18629,essv15315,essv23795,essv21506,essv23209,essv15116,essv1489,essv6774,essv21014,essv20153,essv4084,essv19442,essv17654,essv24839,essv23007,essv4619,essv22490,essv19673,essv18446,essv2069,essv4555,essv19933,essv24576,essv21721,essv18137,essv17499,essv9821,essv19582,essv18708,essv20008,essv1626,essv7404,essv22928,esv217,essv225,essv20662,essv18921,essv122,essv6674,essv14724,essv20630,essv16036,essv4751,essv2224,essv17420,essv3949 M 271 0 0 CDH12,PMCHL1 NA06991,NA07000,NA07029,NA07048,NA07056,NA07348,NA07357,NA10854,NA10855,NA10857,NA10860,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA12005,NA12043,NA12044,NA12056,NA12057,NA12156,NA12234,NA12236,NA12248,NA12249,NA12264,NA12707,NA12762,NA12763,NA12812,NA12813,NA12864,NA12865,NA12873,NA12874,NA12892,NA18501,NA18523,NA18524,NA18537,NA18542,NA18562,NA18563,NA18570,NA18594,NA18608,NA18611,NA18612,NA18620,NA18623,NA18635,NA18852,NA18862,NA18863,NA18871,NA18942,NA18948,NA18949,NA18960,NA18968,NA18970,NA18975,NA18980,NA18998,NA19003,NA19007,NA19127,NA19129,NA19159 nsv880949 5 21868282 21893255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505038 S 6533 0 1 CDH12 SP53041 nsv328954 5 21869405 21869405 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347532 M 24 CDH12 nsv10684 5 21869771 21873737 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14683 S 31 0 1 Samples from several populations that are part of the HapMap project. CDH12 NA18504 nsv10685 5 21886585 21892218 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15540,nssv14811 M 31 0 2 Samples from several populations that are part of the HapMap project. CDH12 NA18860,NA19221 esv2033765 5 21903852 21904266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913788 S 1 0 1 CDH12 NA18507 nsv830230 5 21907045 22076628 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444344,nssv1444345 M 95 2 0 CDH12 esv1005606 5 21911457 21911457 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579507 S 3 1 0 CDH12 HuRef esv1373915 5 21911458 21911458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185055 S 2 1 0 CDH12 HuRef esv270095 5 21935564 21935649 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517056,essv2514902 M 157 2 0 Samples from several populations that are part of the HapMap project. CDH12 NA11931,NA12812 dgv1784e1 5 21945833 22199675 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9257,essv11156 M 271 0 0 CDH12,PMCHL1 NA19128,NA19211 esv21518 5 21952601 22061452 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17974,esv21391,esv13212,esv11596,esv18490 M 451 25 3 CDH12 NA07037,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv327326 5 21956557 21959024 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345904 M 24 CDH12 nsv4761 5 21962652 21994021 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2512 S 9 1 0 CDH12 NA18555 nsv10686 5 21970438 22051543 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12575,nssv12280,nssv13005,nssv12742,nssv12902,nssv14198,nssv13066,nssv14984,nssv12786,nssv13659,nssv13534 M 31 9 2 Samples from several populations that are part of the HapMap project. CDH12 NA07029,NA10839,NA10847,NA10863,NA12155,NA12740,NA12802,NA18517,NA18537,NA18552,NA18942 esv2534629 5 21971056 22050283 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219595 S 1 0 1 CDH12 NA18507 nsv471371 5 21971361 22051302 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548145,nssv548122,nssv548134 M 3 CDH12 nsv329065 5 21974618 21978223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347643 M 24 CDH12 dgv5972n71 5 21988409 22162216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880432,nsv881085 M 6533 0 2 CDH12 IS34896,IS35129 nsv830231 5 21991933 22193308 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444346 S 95 1 0 CDH12,PMCHL1 esv1672813 5 22027408 22027408 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947838 S 2 1 0 CDH12 HuRef dgv5973n71 5 22045010 22137079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881465,nsv880795 M 6533 0 2 CDH12 SP54490,SP57472 esv33296 5 22085720 22160425 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99819 S 51 1 0 CDH12 22086 nsv10687 5 22160580 22167860 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12605,nssv12967,nssv13689,nssv12816,nssv13564,nssv15014,nssv12932 M 31 7 0 Samples from several populations that are part of the HapMap project. CDH12 NA07029,NA10839,NA10847,NA10863,NA11830,NA12740,NA18517 esv26842 5 22160609 22166983 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9775 S 451 10 0 CDH12 NA12044,NA12156,NA12239,NA12287,NA12749,NA12776,NA12878,NA18502,NA18517,NA19129 esv2527456 5 22167822 22253247 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321283 S 1 0 1 CDH12,PMCHL1 NA18507 nsv462009 5 22342957 22507055 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538307 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH12 HGDP00133 nsv880850 5 22365539 22587514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590030 S 6533 0 1 CDH12 IS38446 nsv881183 5 22401067 22426832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515175 S 6533 0 1 CDH12 SP56132 nsv823035 5 22404224 22404773 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434410 S 31 0 1 CDH12 NA18570 nsv507236 5 22425891 22431891 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621780 S 4 1 0 CDH12 NA10860 esv269304 5 22444053 22444340 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510748,essv2509925,essv2496421,essv2501078,essv2506020,essv2505751,essv2507221,essv2494066,essv2513527,essv2509254,essv2507363,essv2495584,essv2504777,essv2507028,essv2493514,essv2497484,essv2510507,essv2497063,essv2499680,essv2512159,essv2501983,essv2498178,essv2502080 M 157 23 0 Samples from several populations that are part of the HapMap project. CDH12 NA18501,NA18508,NA18510,NA18516,NA18523,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA19099,NA19102,NA19137,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274433 5 22444060 22444412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580336,essv2579960 M 7 2 0 Samples from several populations that are part of the HapMap project. CDH12 NA12891,NA12892 nsv507237 5 22446404 22452404 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620286,nssv617664,nssv621781,nssv622926 M 4 4 0 CDH12 CHM,NA10860,NA15510,NA18994 esv2752064 5 22505589 22735349 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985993,essv6985994,essv6985995,essv6990176 M 771 0 1 CDH12 SPC_99 nsv327838 5 22524942 22525555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346416 M 24 CDH12 nsv881356 5 22593381 22812366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578745 S 6533 0 1 CDH12 IS34896 nsv830232 5 22641384 22833632 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444347 S 95 1 0 CDH12 dgv5974n71 5 22705901 22844101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880909,nsv880790 M 6533 0 2 CDH12 IS30764,IS38846 dgv5975n71 5 22752103 22848021 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880979,nsv881258 M 6533 0 2 CDH12 IS36219,MS17114 dgv338n21 5 22769276 22787105 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524936,nsv525897 M 2026 2 0 CDH12 nsv830233 5 22783286 22929763 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444348 S 95 0 1 CDH12 nsv509963 5 22822789 22828789 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623974 S 4 0 1 CDH12 NA18994 esv3741 5 22832303 22832761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26182 S 1 0 1 Single Asian sample YH CDH12 YH nsv327318 5 22832368 22832685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345896 M 24 CDH12 nsv327391 5 22872108 22875218 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345969 M 24 CDH12 esv1002959 5 22907266 22909564 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564938 S 3 1 0 "" HuRef nsv512847 5 22909424 22909643 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625485 S 1 1 0 "" 1 esv1109123 5 22909567 22909567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190466 S 2 1 0 "" HuRef nsv881124 5 22920358 23297549 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554070 S 6533 1 0 "" MS20588 nsv880469 5 22987159 23054029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557888 S 6533 1 0 "" MS22968 esv271269 5 23044578 23044913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494728,essv2506158,essv2500999,essv2513367,essv2501751 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18523,NA18856,NA18907,NA19239 esv273794 5 23044594 23044810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580460 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv830234 5 23087589 23262939 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444349 S 95 0 1 "" esv2635889 5 23105468 23106238 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379705 S 1 1 0 "" NA18507 nsv4762 5 23119087 23153751 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3337 S 9 1 0 "" NA12878 esv275586 5 23194309 23195112 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585592,essv2585578 M 1250 1 1 "" nsv462011 5 23278442 23299503 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538308 S 1557 0 1 "" NINDS_125 dgv5976n71 5 23278836 23334659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880761,nsv880506,nsv881151 M 6533 0 6 "" IS34782,IS38846,IS41909,IS41922,MS10727,MS15199 nsv881058 5 23278836 23452231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597447 S 6533 0 1 "" IS41043 nsv462012 5 23279157 23314979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538309 S 1557 0 1 "" 1780862310_A nsv470999 5 23283547 23316296 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545101 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00551 nsv470998 5 23283547 23432526 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545100 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 nsv527591 5 23299503 23309962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704052 S 2026 0 1 "" dgv1785e1 5 23324344 23340668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12948,esv880 M 271 0 0 "" NA19102 nsv881690 5 23361189 23452231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583521,nssv1584562 M 6533 0 2 "" IS36527,IS37065 nsv471000 5 23367203 23432526 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545102 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01371 esv2190676 5 23410113 23410805 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934038 S 1 0 1 "" NA18507 esv997255 5 23410294 23410610 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569664 S 3 0 1 "" HuRef esv2594572 5 23410296 23410612 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389054 S 1 0 1 "" NA18507 esv8681 5 23410305 23410619 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31122 S 1 0 1 "" SJK esv2198865 5 23449320 23450001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909710 S 1 0 1 "" NA18507 esv1007289 5 23449520 23449836 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585882 S 3 0 1 "" HuRef esv1196362 5 23449522 23449839 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087063 S 2 0 1 "" HuRef nsv880521 5 23452231 23862990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571130 S 6533 1 0 PRDM9 IS32607 dgv5977n71 5 23567951 23663425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880391,nsv880615 M 6533 0 2 "" IS36910,MS12266 nsv881285 5 23567951 23720342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541136 S 6533 0 1 "" MS15199 nsv880297 5 23569503 23616744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509134 S 6533 0 1 "" SP54753 nsv881559 5 23600645 23714525 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579730 S 6533 1 0 "" IS35174 nsv471001 5 23616744 23659367 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545103 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00655 dgv5978n71 5 23620363 23745505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880969,nsv881439 M 6533 0 4 "" IS30925,IS33533,IS36656,IS39718 nsv823036 5 23661761 23673497 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430569 S 31 1 0 "" AK16 nsv881351 5 23715290 23745505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503285 S 6533 0 1 "" SP52025 nsv881062 5 23765798 23893603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544941 S 6533 1 0 "" MS16607 esv2153773 5 23766927 23767361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967561 S 1 0 1 "" NA18507 nsv519908 5 23832229 24231564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697118 S 2026 0 1 "" esv25015 5 23920002 23941114 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17148,esv21133 M 451 6 6 "" NA07045,NA11894,NA11931,NA11995,NA12239,NA12287,NA12749,NA18508,NA18916,NA19099,NA19147,NA19225 nsv513226 5 23937840 23941035 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626729 S 1 0 1 "" 1 nsv821423 5 23937902 23941210 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420506 S 1 0 1 "" NA10851 esv2623495 5 23938217 23941853 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168028 S 1 0 1 "" NA18507 esv2002269 5 23938588 23941184 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612820 S 1 0 1 "" NA18507 esv6017 5 23938759 23940988 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28458 S 1 0 1 "" SJK esv2111344 5 23945981 23946671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722233 S 1 0 1 "" NA18507 nsv327536 5 23946180 23946465 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346114 M 24 "" nsv4763 5 24000834 24006686 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2690 S 9 1 0 "" NA18555 nsv524893 5 24066569 24108374 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700899 S 2026 1 0 "" nsv515927 5 24086971 24108374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685106,nssv671156,nssv658693,nssv665341 M 2026 0 4 "" nsv881514 5 24108374 24176875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591985 S 6533 0 1 "" IS39119 nsv881243 5 24108374 24422837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574272 S 6533 0 1 "" IS33533 esv2325179 5 24127179 24127894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552585 S 1 0 1 "" NA18507 esv4478 5 24127306 24127773 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26919 S 1 0 1 Single Asian sample YH "" YH esv1370281 5 24127379 24127704 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657232 S 2 0 1 "" HuRef dgv5979n71 5 24128887 24275380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880291,nsv881639 M 6533 0 2 "" IS36219,MS17114 nsv881287 5 24137801 24197963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574434 S 6533 0 1 "" IS33566 esv273342 5 24186251 24186602 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584308,essv2584427,essv2583862 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270193 5 24186258 24186607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565566,essv2522683,essv2548399,essv2544502,essv2557383,essv2556942,essv2552685,essv2532049,essv2550239,essv2569762,essv2523805,essv2552861,essv2543014,essv2524639,essv2572207,essv2542129,essv2543748,essv2534340,essv2573493,essv2575401,essv2526337,essv2524187,essv2574965,essv2568540,essv2549697,essv2571502,essv2545984,essv2574318,essv2551359,essv2548801,essv2554767,essv2563427 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10847,NA11829,NA11931,NA12045,NA12414,NA18499,NA18501,NA18502,NA18505,NA18511,NA18520,NA18537,NA18542,NA18550,NA18555,NA18609,NA18856,NA18870,NA18959,NA18964,NA19099,NA19114,NA19129,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 nsv830235 5 24229944 24420607 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444350 S 95 0 1 "" esv1637849 5 24307326 24307390 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806339 S 2 0 1 "" HuRef esv1500355 5 24313804 24313804 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683090 S 2 1 0 "" HuRef nsv4764 5 24384588 24403800 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2513 S 9 0 1 "" NA18555 esv2575729 5 24404268 24412103 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272787 S 1 0 1 "" NA18507 nsv508351 5 24405198 24409706 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619953 S 4 0 1 "" NA15510 nsv436492 5 24405462 24410932 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466207 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv513227 5 24405753 24409195 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626730 S 1 0 1 "" 1 esv1008732 5 24406064 24412458 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564209 S 3 0 1 "" HuRef esv2100449 5 24406091 24409411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640224 S 1 0 1 "" NA18507 dgv193n6 5 24406285 24409208 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327332,nsv327151 M 24 "" esv1006110 5 24406289 24409197 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577020 S 3 0 1 "" HuRef esv1250352 5 24406299 24409208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071043 S 2 0 1 "" HuRef esv8299 5 24406304 24409199 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30740 S 1 0 1 "" SJK nsv830236 5 24423552 24600486 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444352 S 95 0 1 CDH10 esv2294142 5 24488407 24489122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506350 S 1 0 1 "" NA18507 esv7486 5 24488596 24488921 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29927 S 1 0 1 "" SJK nsv329021 5 24488597 24488918 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347599 M 24 "" esv1007690 5 24488609 24488930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580485 S 3 0 1 "" HuRef esv1281279 5 24488609 24488931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693787 S 2 0 1 "" HuRef nsv881402 5 24499295 24630573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567943 S 6533 0 1 CDH10 IS31179 nsv881153 5 24518232 24585373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568535 S 6533 0 1 CDH10 IS31302 dgv5980n71 5 24545704 24630573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881363,nsv881069,nsv880516 M 6533 0 5 CDH10 IS31285,IS35145,MS15199,MS18978,SP52694 dgv5981n71 5 24558562 24604075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880965,nsv880881 M 6533 0 3 CDH10 IS31330,IS34962,IS37999 nsv880950 5 24558562 24701275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552832 S 6533 0 1 CDH10 MS19634 dgv5982n71 5 24558562 24810920 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881233,nsv881264 M 6533 0 2 CDH10 IS32166,IS41043 dgv1786e1 5 24564081 24613895 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7915,esv1092 M 271 0 0 CDH10 NA19239 esv1416666 5 24589997 24589997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202043 S 2 1 0 CDH10 HuRef esv25919 5 24606208 24613318 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12974 S 451 0 1 CDH10 NA19190 nsv512848 5 24610445 24610768 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625486 S 1 1 0 CDH10 1 nsv880271 5 24656576 24758749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554601,nssv1568936 M 6533 0 2 CDH10 IS31373,MS20872 dgv5983n71 5 24659860 24680605 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881098,nsv880592 M 6533 0 2 CDH10 SP53583,SP57418 nsv4765 5 24665098 24695161 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10446 S 9 1 0 CDH10 NA18956 esv272074 5 24732826 24733146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494961,essv2513538,essv2497469 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18520,NA18907,NA19147 nsv880801 5 24786371 24837841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546304 S 6533 0 1 "" MS17130 nsv436982 5 24810920 24827137 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466863 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10854 esv29825 5 24814120 24821649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18857 S 451 0 1 "" NA18909 esv2541385 5 24850922 24852340 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345419 S 1 0 1 "" NA18507 nsv880529 5 24886837 25002876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582333 S 6533 0 1 "" IS35911 nsv4767 5 24950240 24995172 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8081 S 9 0 1 "" NA12156 nsv507238 5 24990291 24996291 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622927,nssv621782,nssv617665,nssv620287 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv880991 5 25103129 25420485 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584654 S 6533 1 0 "" IS37103 nsv528718 5 25122390 25411554 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705368 S 2026 1 0 "" nsv880874 5 25133673 25244800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505570 S 6533 0 1 "" SP53687 nsv823037 5 25218155 25238360 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428266 S 31 1 0 "" AK10 esv271882 5 25227086 25227171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518990 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv8714 5 25232004 25232056 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31155 S 1 1 0 "" SJK esv274571 5 25249503 25249588 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581077 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv267733 5 25249506 25249579 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557008,essv2561364,essv2542165,essv2562377,essv2526358,essv2574958,essv2572686,essv2548049,essv2574212 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18523,NA18856,NA18909,NA19114,NA19138,NA19143,NA19210,NA19240 esv270861 5 25269652 25269960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546503,essv2521412,essv2542488,essv2536625,essv2523351,essv2570523,essv2548392,essv2576582,essv2550417,essv2577998,essv2554900,essv2537567,essv2546733,essv2532382,essv2527228,essv2540341,essv2567391,essv2559339,essv2539381,essv2537847,essv2548771,essv2554543,essv2547736 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA07347,NA11881,NA11894,NA11919,NA11920,NA12004,NA12044,NA12045,NA12154,NA12234,NA12761,NA12872,NA12878,NA12892,NA18505,NA18522,NA18552,NA18582,NA18638,NA18912 esv272858 5 25269657 25269963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581895,essv2583067 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv2107734 5 25310971 25311677 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967207 S 1 0 1 "" NA18507 nsv462014 5 25338740 25426838 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538310 S 1557 0 1 "" 1798860592_A esv2275193 5 25350195 25350880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613413 S 1 0 1 "" NA18507 esv2442656 5 25350540 25352333 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213009 S 1 0 1 "" NA18507 esv1969193 5 25351802 25352461 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734553 S 1 0 1 "" NA18507 dgv5984n71 5 25411554 25499370 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881462,nsv881079,nsv881371 M 6533 0 7 "" IS30522,IS31044,IS31179,IS31330,IS31419,IS37226,MS15312 nsv880780 5 25422664 25548964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591685 S 6533 0 1 "" IS39011 nsv880639 5 25453889 25499370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579404,nssv1594127,nssv1534119 M 6533 0 3 "" IS35100,IS39716,MS11467 nsv830238 5 25467118 25653602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444353 S 95 0 1 "" nsv881595 5 25475141 25517880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508995 S 6533 0 1 "" SP54556 nsv327988 5 25515847 25516058 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346566 M 24 "" esv268949 5 25517267 25517454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506145,essv2505183,essv2501320,essv2509538,essv2499804 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18853,NA19093,NA19129,NA19225 nsv525325 5 25557042 25573172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701435 S 2026 0 1 "" nsv462015 5 25557042 25608058 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538311 S 1557 0 1 "" 1780854576_A nsv880995 5 25557042 25644484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584919 S 6533 0 1 "" IS37194 nsv471002 5 25563723 25616428 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545104 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv880534 5 25574052 25616428 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568739 S 6533 0 1 "" IS31335 nsv516358 5 25579023 25581639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679093,nssv667758 M 2026 0 2 "" nsv830239 5 25632061 25835418 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444354 S 95 0 1 "" nsv880441 5 25685933 25742283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505039 S 6533 0 1 "" SP53041 dgv5985n71 5 25709408 25855082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880843,nsv880882 M 6533 0 2 "" IS30522,IS31041 dgv5986n71 5 25710836 25758825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881407,nsv880593,nsv881035 M 6533 0 4 "" IS31758,IS33605,IS37999,IS39011 nsv471003 5 25722226 25736112 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545105 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00877 nsv881145 5 25722226 25747485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582701 S 6533 0 1 "" IS36103 nsv880768 5 25725454 25773621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541138,nssv1552833,nssv1536522 M 6533 0 3 "" MS12827,MS15199,MS19634 nsv818328 5 25735873 25753264 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417449 S 112 0 1 "" NA06985 nsv880507 5 25736112 25910678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567498 S 6533 0 1 "" IS31094 esv2589931 5 25812772 25814297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227473 S 1 0 1 "" NA18507 esv2069903 5 25812872 25813585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853694 S 1 0 1 "" NA18507 esv4507 5 25813016 25813442 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26948 S 1 0 1 Single Asian sample YH "" YH nsv328663 5 25813064 25813387 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347241 M 24 "" esv1569342 5 25813078 25813402 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778891 S 2 0 1 "" HuRef esv9483 5 25813080 25813393 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31924 S 1 0 1 "" SJK nsv523374 5 25818329 25826344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699123 S 2026 0 1 "" esv6493 5 25824298 25824365 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28934 S 1 1 0 "" SJK nsv528626 5 25855082 25883734 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705256 S 2026 1 0 "" esv2421619 5 25857442 25858556 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5113010,essv5089418,essv5049868,essv5156614,essv5067571,essv5020892,essv5011980,essv5103067,essv5096234,essv5040133,essv5125147,essv5085533,essv5158782,essv5104986,essv5003561,essv5126298,essv5013946,essv5030560,essv5126158,essv5056914,essv5124848,essv5138104,essv5151378,essv5102628,essv5157129,essv5139975,essv5008173,essv5146507,essv5148687,essv5122888,essv5101556,essv5027304,essv5027803,essv5030214,essv5072184,essv5115481,essv5150932,essv5134818,essv5004136,essv5131989,essv5080823,essv5118370,essv5062511,essv5100764,essv5116368,essv5045776,essv5160033,essv5015864,essv5078419,essv5022893,essv5113801,essv5079721,essv5005945,essv5056286,essv5028003,essv5101868,essv5104656,essv5068171,essv5057712,essv5154688,essv5114569,essv5110270,essv5151256,essv5087451,essv5142129,essv5034620,essv5107983,essv5049133,essv5130573,essv5101174,essv5122947,essv5058385,essv5129504,essv5073578,essv5116523,essv5140312,essv5046863,essv5059645,essv5111615,essv5102641,essv5006702,essv5125584,essv5044812,essv5153963,essv5013172,essv5024198,essv5112574,essv5029963,essv5054111,essv5120524,essv5039562,essv5124335,essv5133412,essv5046641 M 1184 0 94 "" NA10838,NA11918,NA12766,NA12775,NA12864,NA12865,NA12873,NA12874,NA17987,NA18159,NA18504,NA18873,NA18913,NA18914,NA19035,NA19041,NA19152,NA19154,NA19181,NA19197,NA19199,NA19203,NA19238,NA19240,NA19307,NA19316,NA19346,NA19347,NA19352,NA19384,NA19399,NA19435,NA19457,NA19467,NA19469,NA19470,NA19473,NA19651,NA19658,NA19659,NA19675,NA19677,NA19678,NA19680,NA19712,NA19819,NA19828,NA20322,NA20345,NA20512,NA20517,NA20588,NA20757,NA20768,NA20795,NA20877,NA20879,NA20901,NA20908,NA21086,NA21107,NA21108,NA21307,NA21309,NA21312,NA21320,NA21353,NA21355,NA21367,NA21382,NA21383,NA21387,NA21389,NA21390,NA21408,NA21414,NA21417,NA21423,NA21451,NA21475,NA21477,NA21478,NA21489,NA21490,NA21491,NA21493,NA21494,NA21529,NA21597,NA21614,NA21631,NA21689,NA21693,NA21826 esv29415 5 25857601 25859545 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20086 S 451 0 1 "" NA12004 esv3611 5 25869029 25869452 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26052 S 1 0 1 Single Asian sample YH "" YH esv5656 5 25869119 25869428 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28097 S 1 0 1 "" SJK nsv880445 5 25900194 25936319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586229 S 6533 0 1 "" IS37698 nsv881622 5 25900194 26147949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553342 S 6533 0 1 "" MS19941 nsv525932 5 25905847 25914456 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702138 S 2026 1 0 "" esv28870 5 25925534 25927649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16363 S 451 0 3 "" NA18916,NA19114,NA19225 nsv328897 5 25930048 25937147 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347475 M 24 "" nsv830240 5 25932523 26126952 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444356,nssv1444355 M 95 0 2 "" dgv5987n71 5 25987318 26060214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881059,nsv881534,nsv880942 M 6533 0 3 "" IS35145,IS36512,MS18978 dgv5988n71 5 25987318 26092874 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880491,nsv881659,nsv881581,nsv881587,nsv880608,nsv880747 M 6533 0 7 "" IS30539,IS31330,IS31553,IS35236,IS36722,IS39716,MS16898 dgv5989n71 5 25987318 26174463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880405,nsv880687 M 6533 0 2 "" IS37226,IS39011 dgv5990n71 5 26013563 26084219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881226,nsv880943 M 6533 0 2 "" IS30669,MS12071 nsv441945 5 26027946 26034694 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv521007 5 26028214 26036310 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687335,nssv690273,nssv679738,nssv686317 M 2026 0 4 "" nsv523377 5 26028214 26049058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699126 S 2026 0 1 "" nsv462018 5 26028214 26092874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538313 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00023 nsv328658 5 26031983 26035390 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347236 M 24 "" nsv881430 5 26041000 26228854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570539,nssv1579914 M 6533 0 2 "" IS32166,IS35189 nsv818329 5 26049058 26064146 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415898 S 112 1 0 "" NA10861 nsv830241 5 26098550 26251714 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444357 S 95 1 0 "" nsv881326 5 26124634 26228854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552834,nssv1537928 M 6533 0 2 "" MS13426,MS19634 esv24920 5 26126891 26127394 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15882 S 451 0 1 "" NA19225 esv1249626 5 26130282 26130282 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055075 S 2 1 0 "" HuRef esv1988123 5 26146764 26147478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800326 S 1 0 1 "" NA18507 esv4653 5 26146904 26147447 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27094 S 1 0 1 Single Asian sample YH "" YH nsv329449 5 26146944 26147269 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348027 M 24 "" esv1004457 5 26146953 26147278 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570203 S 3 0 1 "" HuRef esv8937 5 26146955 26147271 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31378 S 1 0 1 "" SJK esv1659000 5 26146960 26147286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084319 S 2 0 1 "" HuRef dgv5991n71 5 26161396 26237026 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880321,nsv880983 M 6533 0 3 "" IS39243,IS39718,MS18978 nsv880880 5 26218596 26300382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596840 S 6533 0 1 "" IS40657 esv1526848 5 26222012 26222012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955288 S 2 1 0 "" HuRef esv1735655 5 26222013 26222073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173346 S 2 0 1 "" HuRef esv6646 5 26240634 26242091 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29087 S 1 0 0 "" SJK nsv518770 5 26246320 26259798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696220 S 2026 0 1 "" esv2348035 5 26264353 26264736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874010 S 1 0 1 "" NA18507 dgv142e180 5 26264532 26264622 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1000651,esv987533 M 3 0 1 "" HuRef esv1155943 5 26264554 26264631 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894893 S 2 0 1 "" HuRef esv1617972 5 26266524 26266610 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057137 S 2 0 1 "" HuRef esv23871 5 26270894 26272703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11335 S 451 0 1 "" NA12414 nsv818330 5 26273890 26314671 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417864 S 112 1 0 "" NA18852 esv270249 5 26371400 26371739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576410,essv2523770,essv2538269,essv2542762,essv2540230,essv2524717,essv2565087,essv2561034,essv2539631,essv2549487,essv2519757,essv2559776,essv2529020,essv2572401,essv2559195,essv2578282,essv2573175,essv2533690,essv2522434,essv2573674,essv2543384 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18579,NA18609,NA18638,NA18940,NA18942,NA18944,NA18960,NA18964,NA18965 nsv10688 5 26404571 26769798 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14011 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv513228 5 26419674 26421531 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626731 S 1 0 1 "" 1 nsv511276 5 26419764 26429762 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624966 S 1 0 1 "" 1 nsv329215 5 26420613 26420663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347793 M 24 "" esv1007452 5 26420614 26421417 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586996 S 3 0 1 "" HuRef esv29378 5 26420914 26421420 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13587 S 451 0 1 "" NA11995 nsv881372 5 26454661 26573517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597486 S 6533 0 1 "" IS41224 nsv881093 5 26498493 26672051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546123 S 6533 0 1 "" MS17114 nsv880609 5 26527297 26583278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499271 S 6533 0 1 "" SP50025 nsv880966 5 26552386 26651853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578746 S 6533 0 1 "" IS34896 nsv522518 5 26556619 26559245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705887 S 2026 0 1 "" nsv880514 5 26556619 26728126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550811 S 6533 0 1 "" MS18620 nsv462021 5 26576073 28513729 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538314 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH9,LOC643401 HGDP01255 esv2367736 5 26593613 26594032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598447 S 1 0 1 "" NA18507 esv267960 5 26632596 26632879 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501711,essv2508534,essv2493157 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA12717,NA18504 esv4802 5 26636333 26636768 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27243 S 1 0 1 Single Asian sample YH "" YH esv2147654 5 26689469 26689917 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782375 S 1 0 1 "" NA18507 nsv880920 5 26748470 26927765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582334 S 6533 0 1 CDH9 IS35911 dgv5992n71 5 26776598 26852428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881154,nsv880860 M 6533 0 5 "" IS30539,IS31074,IS31706,IS35743,IS39081 dgv5993n71 5 26776598 26922341 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880705,nsv880667 M 6533 0 2 CDH9 IS39718,IS41924 nsv471004 5 26787999 26868645 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545106 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 dgv1787e1 5 26791054 26970598 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv163,essv19995 M 271 0 0 CDH9 NA07048 dgv5994n71 5 26793963 26865570 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880575,nsv881024,nsv881135 M 6533 0 6 "" IS30522,IS30597,IS31359,IS31563,IS31581,IS38263 nsv4768 5 26797447 26846056 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3338,nssv5988,nssv4826 M 9 0 3 "" NA12156,NA12878,NA19129 nsv881597 5 26800560 26868451 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522009,nssv1572477,nssv1532239,nssv1562818 M 6533 1 3 "" IS33073,MS10737,MS25751,SP52694 nsv10689 5 26812294 26817225 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15570 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv10690 5 26829009 26838408 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14841,nssv12310,nssv12401,nssv15383,nssv15600,nssv13593,nssv12199,nssv15074,nssv13027,nssv13408,nssv13719,nssv14041,nssv12947,nssv13799,nssv12962,nssv14071,nssv13035,nssv13076,nssv13126,nssv13190,nssv14228,nssv13468,nssv14637,nssv14871,nssv15044,nssv13314,nssv12846,nssv12997 M 31 15 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv940n67 5 26829131 26837856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823039,nsv823040,nsv823038 M 31 0 10 "" AK12,AK14,AK2,AK20,NA18542,NA18564,NA18570,NA18942,NA18947,NA18972 nsv820941 5 26829131 26837856 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420507 S 1 0 1 "" NA10851 esv2645857 5 26829165 26838000 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301319 S 1 0 1 "" NA18507 esv1413497 5 26829499 26829549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599388 S 2 0 1 "" HuRef esv2586588 5 26831650 26838215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305287 S 1 0 1 "" NA18507 nsv820303 5 26831817 26837917 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419755 S 2 1 0 "" AK1 esv1000558 5 26832069 26838778 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563952 S 3 0 1 "" HuRef esv2335981 5 26832272 26837840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997508 S 1 0 1 "" NA18507 nsv436487 5 26832316 26839673 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466208 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499394 5 26832455 26837657 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585947 S 9 0 1 "" esv26811 5 26832459 26837664 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12261 S 451 9 16 "" NA07037,NA07045,NA11993,NA11995,NA12044,NA12156,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19240,NA19257 nsv514297 5 26833744 26837530 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627741 S 1414 0 1 "" nsv880473 5 26902520 26955104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567001 S 6533 0 1 CDH9 IS31041 nsv462023 5 26908493 26955104 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538315 S 1557 0 1 CDH9 1782681091_A nsv462024 5 26910398 26936660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538316 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDH9 HGDP00023 esv1001329 5 26932353 26932353 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583308 S 3 1 0 CDH9 HuRef nsv880889 5 26936660 27046443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520219 S 6533 0 1 CDH9 SP50755 dgv5995n71 5 27002693 27094607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880464,nsv880558 M 6533 0 2 CDH9 IS39243,MS19634 nsv881006 5 27046443 27267071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569750 S 6533 0 1 CDH9 IS31703 esv269271 5 27169854 27170157 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511869,essv2510529,essv2507373,essv2506487,essv2498681,essv2497047,essv2499849,essv2512132,essv2501864,essv2498234 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18912,NA19108,NA19138,NA19190,NA19225,NA19238,NA19239,NA19240 esv272881 5 27169855 27170193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584191,essv2584553,essv2583580 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv328711 5 27169873 27169873 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347289 M 24 "" dgv5996n71 5 27171108 27806311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880298,nsv880326,nsv881286 M 6533 0 3 LOC643401 IS32166,IS39011,MS22104 nsv823041 5 27212156 27227062 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427480 S 31 0 1 "" AK8 nsv522387 5 27234790 27244464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695166 S 2026 0 1 "" nsv881387 5 27300698 27409619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536109 S 6533 0 1 "" MS12630 dgv5997n71 5 27315738 27595416 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880623,nsv881318 M 6533 0 2 LOC643401 IS31046,MS15199 dgv5998n71 5 27344011 27483620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880317,nsv880525 M 6533 0 2 "" IS31094,IS31145 nsv880974 5 27344420 27393113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513800 S 6533 0 1 "" SP55847 nsv881503 5 27379794 27545807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553343 S 6533 0 1 LOC643401 MS19941 nsv881216 5 27397573 27499941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586500 S 6533 0 1 "" IS37841 dgv5999n71 5 27412439 27595416 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880926,nsv881003,nsv881475,nsv881139,nsv880496,nsv880935 M 6533 0 7 LOC643401 IS31044,IS31074,IS32150,IS32607,IS34645,IS35196,IS41939 dgv6000n71 5 27412439 27806311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880535,nsv880999 M 6533 0 2 LOC643401 IS35911,MS22008 nsv880631 5 27415463 27468103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517144 S 6533 0 1 "" SP57197 dgv6001n71 5 27423142 27513955 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881089,nsv880442 M 6533 0 3 LOC643401 IS30635,IS35572,IS39119 dgv6002n71 5 27424316 27720272 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880940,nsv881221,nsv881125,nsv880869 M 6533 0 4 LOC643401 IS36244,MS10756,MS19634,SP80928 nsv527965 5 27437692 27454644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704476 S 2026 0 1 "" nsv880660 5 27454644 27545807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569810 S 6533 0 1 LOC643401 IS31722 dgv6003n71 5 27460738 27595416 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880474,nsv880726 M 6533 0 4 LOC643401 IS31306,IS31581,IS36656,IS39716 dgv6004n71 5 27499941 27696289 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881364,nsv881485,nsv880559,nsv880980 M 6533 0 6 LOC643401 IS31617,IS32615,IS33839,IS35083,IS36722,IS41043 nsv818331 5 27545807 27561817 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415643,nssv1415644 M 112 0 2 "" NA10835,NA12249 nsv471006 5 27545807 27595983 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545107 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01404 nsv509964 5 27558812 27564812 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618202 S 4 0 1 "" CHM nsv517157 5 27559097 27561817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663975,nssv703028,nssv690138,nssv662390,nssv665058,nssv690007,nssv686147,nssv677072,nssv651992,nssv680603,nssv690577,nssv679862,nssv693217,nssv680681,nssv680159,nssv655245,nssv672229,nssv690616,nssv671360,nssv683008,nssv674283,nssv669730,nssv686568,nssv651872,nssv665342,nssv686665,nssv678778,nssv657009,nssv667324,nssv678540,nssv675008,nssv674481,nssv689492,nssv674375,nssv686298,nssv663430,nssv664487,nssv679813,nssv658601,nssv688641,nssv655919,nssv689863,nssv679983,nssv662893,nssv687676,nssv703500,nssv660082,nssv682870,nssv678974,nssv690372,nssv656480,nssv691195,nssv670569,nssv677225,nssv666979,nssv688507,nssv666599,nssv673455,nssv653439,nssv687706,nssv663499,nssv658100,nssv660572,nssv672574,nssv667805,nssv657877,nssv673690,nssv659691,nssv658918,nssv653413,nssv652080,nssv685608,nssv689152,nssv668186,nssv687137,nssv678702,nssv684155,nssv681943,nssv671028,nssv660522,nssv659147,nssv661784,nssv689590,nssv666724,nssv691270,nssv682116,nssv677284,nssv691397,nssv666378,nssv675951,nssv660039,nssv655722,nssv653984,nssv672395,nssv654190,nssv689832,nssv692585,nssv654548,nssv652405,nssv688163,nssv687354,nssv658267,nssv671306,nssv654506,nssv672115,nssv657058,nssv681230,nssv679548,nssv655122,nssv657387,nssv691926,nssv653891,nssv655615,nssv652226,nssv657597,nssv670894,nssv668140,nssv660360,nssv686408,nssv661333,nssv660064,nssv689652,nssv657704 M 2026 0 123 "" nsv818332 5 27559097 27561817 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417560,nssv1417671,nssv1415955,nssv1415756 M 112 0 4 "" NA06991,NA06993,NA12750,NA12875 esv21697 5 27559816 27562150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20257 S 451 0 2 "" NA07037,NA12239 nsv818335 5 27560697 27561817 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418369,nssv1418068,nssv1418067,nssv1418371 M 112 1 3 "" NA10859,NA11882,NA12146,NA12239 nsv528814 5 27560697 27575247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705488 S 2026 0 1 "" nsv522023 5 27560697 27595416 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694792 S 2026 0 1 "" nsv514298 5 27561136 27561740 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627742 S 1414 0 1 "" nsv442942 5 27561143 27561777 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv6005n71 5 27595983 27707082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881651,nsv881198 M 6533 0 2 "" IS33605,MS17697 nsv880292 5 27595983 27881924 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577695 S 6533 1 0 "" IS34526 esv1563580 5 27607755 27607755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770260 S 2 1 0 "" HuRef nsv880563 5 27619491 27759277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579966 S 6533 0 1 "" IS35196 nsv880655 5 27619491 27968137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550812 S 6533 0 1 "" MS18620 nsv526078 5 27647188 27648974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702320 S 2026 0 1 "" nsv519139 5 27647188 27657934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696617 S 2026 0 1 "" dgv6006n71 5 27720272 27820913 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880702,nsv881080 M 6533 0 4 "" MS10731,MS16981,MS25025,MS25219 nsv881573 5 27720272 27860402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564862 S 6533 0 1 "" IS30311 nsv507239 5 27766479 27772479 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622928,nssv621783,nssv620288 M 4 3 0 "" NA10860,NA15510,NA18994 nsv4769 5 27798169 27831412 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8082 S 9 1 0 "" NA12156 esv27417 5 27840251 27841484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13397 S 451 0 1 "" NA07037 dgv6007n71 5 27881924 28322259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880437,nsv880821 M 6533 0 2 "" IS41113,IS41909 nsv880550 5 27898914 28767883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577696 S 6533 1 0 "" IS34526 esv271792 5 27951874 27952093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495242,essv2509086 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA18522 nsv471007 5 27964931 28016280 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545108 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00690 nsv462026 5 27966880 27988870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538317 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00454 nsv528052 5 28009510 28009643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704585 S 2026 0 1 "" nsv880545 5 28033256 28170091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581376 S 6533 0 1 "" IS35572 nsv881022 5 28070406 28148610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566603 S 6533 0 1 "" IS30824 dgv6008n71 5 28091982 28170091 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880915,nsv881113 M 6533 0 5 "" IS31205,IS36533,IS39718,MS17611,MS18620 nsv881397 5 28091982 28242945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528837 S 6533 0 1 "" SP81367 esv270042 5 28179760 28180854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498286 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18526 nsv4770 5 28201814 28264194 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9407,nssv8084 M 9 0 2 "" NA12156,NA18517 dgv6009n71 5 28208582 28322259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880785,nsv881451,nsv881175 M 6533 0 5 "" IS41984,MS18620,MS19414,MS21717,MS23531 esv2522114 5 28251625 28261354 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190936 S 1 0 1 "" NA18507 esv2474350 5 28252129 28261160 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186805 S 1 0 1 "" NA18507 esv2191360 5 28252220 28261240 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826568 S 1 0 1 "" NA18507 esv23959 5 28252380 28261086 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15300 S 451 0 8 "" NA18517,NA18861,NA18907,NA18909,NA18916,NA19129,NA19147,NA19257 nsv514299 5 28253216 28260916 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627743 S 1414 0 1 "" esv2421704 5 28254644 28258442 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096351,essv5069524,essv5034799,essv5072266,essv5159726,essv5042524,essv5107737,essv5032616,essv5106365,essv5158069,essv5067651,essv5144634,essv5047079,essv5121810,essv5120557,essv5094024,essv5003416,essv5026043,essv5018964,essv5135277,essv5070173,essv5038435,essv5018902,essv5091294,essv5077173,essv5064762,essv5013220,essv5094869,essv5048623,essv5108561,essv5107529,essv5136734,essv5139209,essv5029147,essv5097376,essv5037772,essv5106093,essv5080920,essv5008206,essv5009413,essv5153558,essv5018668,essv5112269,essv5060879,essv5108522,essv5137298,essv5113924,essv5040267,essv5113091,essv5062589,essv5105662,essv5041867,essv5088345,essv5085348,essv5007724,essv5056257,essv5129937,essv5038501,essv5123546,essv5011582,essv5043974,essv5057890,essv5132160,essv5107756,essv5043888,essv5018414,essv5033612,essv5118060,essv5138522,essv5158334,essv5128624,essv5012412,essv5122028,essv5009155,essv5138247,essv5070720,essv5014619,essv5151895,essv5131232,essv5020334,essv5104025,essv5093859,essv5035014,essv5113199,essv5102183,essv5009407,essv5133498,essv5093516,essv5020661,essv5016166,essv5157069,essv5015309,essv5056158,essv5138295,essv5058804,essv5019270,essv5012729,essv5019037,essv5111248,essv5037336,essv5156426,essv5056078,essv5016350,essv5096722,essv5143682,essv5074849,essv5021914,essv5116675,essv5025863,essv5142490,essv5153419,essv5007378,essv5041174,essv5078124,essv5057328,essv5046605,essv5013113,essv5132956,essv5071645,essv5030158,essv5114765,essv5020171,essv5130265,essv5160058,essv5136833,essv5085436,essv5034410,essv5146264,essv5124384,essv5111919,essv5138985,essv5118394,essv5102781,essv5111181,essv5128278,essv5094450,essv5025240,essv5066720,essv5009661,essv5035780,essv5026814,essv5083870,essv5039134,essv5028490,essv5102527,essv5105145,essv5068833,essv5084766,essv5086535,essv5033251,essv5145020 M 1184 0 151 "" NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18509,NA18511,NA18515,NA18517,NA18855,NA18859,NA18860,NA18861,NA18863,NA18871,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18914,NA18916,NA18930,NA18933,NA18934,NA18935,NA19093,NA19094,NA19102,NA19103,NA19122,NA19127,NA19128,NA19129,NA19138,NA19139,NA19141,NA19143,NA19147,NA19148,NA19160,NA19161,NA19173,NA19178,NA19180,NA19186,NA19197,NA19200,NA19206,NA19226,NA19236,NA19247,NA19257,NA19258,NA19311,NA19315,NA19324,NA19334,NA19347,NA19350,NA19352,NA19371,NA19379,NA19381,NA19390,NA19393,NA19394,NA19396,NA19397,NA19429,NA19430,NA19431,NA19434,NA19436,NA19444,NA19448,NA19449,NA19462,NA19463,NA19466,NA19651,NA19679,NA19714,NA19749,NA19751,NA19818,NA19819,NA19914,NA19985,NA20126,NA20127,NA20128,NA20287,NA20288,NA20289,NA20291,NA20317,NA20319,NA20335,NA20341,NA20356,NA20358,NA21300,NA21317,NA21318,NA21333,NA21336,NA21352,NA21360,NA21361,NA21362,NA21364,NA21365,NA21366,NA21385,NA21386,NA21388,NA21400,NA21401,NA21403,NA21408,NA21415,NA21421,NA21423,NA21438,NA21491,NA21509,NA21510,NA21519,NA21520,NA21523,NA21573,NA21574,NA21576,NA21577,NA21580,NA21582,NA21599,NA21613,NA21616,NA21650,NA21685,NA21686,NA21689,NA21717,NA21718,NA21738,NA21768 nsv442943 5 28254644 28258446 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2451371 5 28266120 28270211 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219285 S 1 0 1 "" NA18507 esv2644802 5 28274797 28277259 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307230 S 1 0 1 "" NA18507 nsv4771 5 28280318 28313407 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4827 S 9 0 1 "" NA19129 esv25128 5 28281240 28288839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14314 S 451 0 5 "" NA18517,NA18907,NA18909,NA19129,NA19147 nsv499716 5 28281438 28289048 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585948 S 9 0 1 "" nsv514300 5 28285248 28288784 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627744 S 1414 0 1 "" nsv880357 5 28292633 28352414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577873 S 6533 0 1 "" IS34599 esv274915 5 28363920 28369729 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585135,essv2585638 M 1250 1 1 "" esv4128 5 28392677 28393062 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26569 S 1 0 1 Single Asian sample YH "" YH esv1658157 5 28392713 28393001 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950043 S 2 0 1 "" HuRef nsv329733 5 28392714 28393001 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348311 M 24 "" esv7761 5 28392718 28392980 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30202 S 1 0 1 "" SJK esv987673 5 28413752 28413752 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567569 S 3 1 0 "" HuRef nsv327825 5 28413752 28413752 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346403 M 24 "" esv1522595 5 28413753 28413753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195212 S 2 1 0 "" HuRef esv271153 5 28417084 28417407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499364,essv2509787,essv2498741,essv2503954,essv2511580 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA11994,NA18508,NA19138 nsv507240 5 28509613 28515613 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617666,nssv622929 M 4 2 0 "" CHM,NA18994 esv1010872 5 28522665 28526740 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565271 S 3 1 0 "" HuRef nsv830242 5 28525238 28695999 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444358 S 95 1 0 "" nsv820120 5 28525495 28531475 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419749 S 2 1 0 "" AK1 dgv6010n71 5 28525659 28682174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881368,nsv881494 M 6533 0 2 "" IS31330,IS35911 nsv820787 5 28526556 28531395 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420508 S 1 0 1 "" NA10851 esv24448 5 28526764 28531371 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15549 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv880822 5 28534740 28995405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541140 S 6533 0 1 LOC729862 MS15199 nsv4772 5 28548554 28565694 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8085 S 9 0 1 "" NA12156 esv6822 5 28571177 28571226 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29263 S 1 1 0 "" SJK esv23293 5 28574225 28575353 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20709 S 451 0 2 "" NA18502,NA19225 dgv6011n71 5 28646491 28769666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881403,nsv881546,nsv881119,nsv881476,nsv881164 M 6533 0 63 "" IS38400,MS10166,MS10311,MS10491,MS11049,MS11135,MS11663,MS11746,MS12217,MS12461,MS12545,MS12876,MS13160,MS13168,MS13399,MS13808,MS13810,MS14637,MS14676,MS15528,MS15788,MS15877,MS15940,MS16259,MS16477,MS17158,MS17359,MS17599,MS17618,MS17739,MS17830,MS17906,MS18368,MS18422,MS18815,MS18837,MS18940,MS19771,MS20520,MS20708,MS20969,MS21216,MS21258,MS21628,MS22245,MS22327,MS22421,MS22505,MS22608,MS22754,MS22854,MS24051,MS24244,MS24623,MS24919,MS25184,MS25205,MS25436,MS25439,MS25625,MS25728,MS25884,SP53972 nsv880917 5 28661137 28938583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546360 S 6533 0 1 "" MS17164 nsv880369 5 28672109 28700689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509135 S 6533 0 1 "" SP54753 nsv880802 5 28718003 28888873 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597574 S 6533 1 0 "" IS41189 nsv881229 5 28774768 28957017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575804 S 6533 0 1 "" IS33811 dgv6012n71 5 28799409 28898308 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881313,nsv881081 M 6533 0 2 "" IS31330,SP53041 dgv694n27 5 28799409 28909870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462033,nsv462029 M 1557 0 2 "" HGDP00933,NINDS_222 nsv509965 5 28805239 28811239 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621258 S 4 0 1 "" NA15510 nsv4773 5 28809993 28844182 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8086 S 9 1 0 "" NA12156 nsv818336 5 28815114 28851719 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416730 S 112 0 1 "" NA19159 dgv6013n71 5 28815114 28962793 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880313,nsv881224,nsv881250,nsv881525 M 6533 0 4 LOC729862 IS32006,MS10756,MS10797,MS17130 dgv6014n71 5 28822601 28909870 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv880903,nsv881414 M 6533 10 33 "" IS30490,IS30522,IS30589,IS30667,IS30824,IS30838,IS31166,IS31189,IS31218,IS31553,IS31768,IS32150,IS34407,IS34555,IS34962,IS35145,IS35271,IS35743,IS36320,IS36527,IS37059,IS37065,IS37974,IS37999,IS38060,IS38263,IS39119,IS39373,IS40368,IS41906,MS10126,MS10169,MS13154,MS14737,MS15036,MS15092,MS16708,MS18873,MS18978,MS19135,MS21214,MS24854,MS26061 nsv880743 5 28822601 28938583 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535070 S 6533 1 0 "" MS12003 nsv880470 5 28822601 28957017 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569498,nssv1594592,nssv1532146,nssv1569539,nssv1569780,nssv1532588,nssv1580085,nssv1568937,nssv1585003,nssv1588657,nssv1551311 M 6533 1 10 "" IS31373,IS31587,IS31617,IS31706,IS35229,IS37226,IS38231,IS39944,MS10727,MS10778,MS18847 dgv6015n71 5 28822601 29053217 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881344,nsv880318,nsv880374,nsv880410,nsv881575,nsv881649,nsv881674 M 6533 0 9 LOC729862 IS31041,IS31137,IS31581,IS33605,IS36244,IS39011,IS41113,IS41224,SP55878 nsv880855 5 28822601 29164784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579824 S 6533 0 1 LOC729862 IS35181 dgv695n27 5 28828470 28888873 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462032,nsv462031 M 1557 0 2 "" HGDP00926,HGDP00932 nsv462034 5 28828470 28912873 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538323 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00684 nsv515023 5 28831560 28907552 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627025 S 1414 0 0 "" dgv696n27 5 28842013 28909870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462075,nsv462036,nsv462044,nsv462040,nsv462035,nsv462038 M 1557 0 6 "" 1780862470_A,1798860072_A,HGDP01238,NINDS_146,NINDS_223,NINDS_245 dgv697n27 5 28842013 28938583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462071,nsv462046 M 1557 0 2 "" NINDS_142,NINDS_189 nsv471008 5 28842013 28951668 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545110,nssv545111,nssv545112 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00606,HGDP01228,HGDP01323 nsv517060 5 28846136 28851719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679863,nssv653707,nssv674513,nssv655435,nssv652406,nssv652827 M 2026 0 6 "" nsv518589 5 28847546 28860345 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696035 S 2026 1 0 "" nsv818337 5 28847546 28906260 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415837 S 112 1 0 "" NA10860 esv2555041 5 28848221 28849947 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351604 S 1 0 1 "" NA18507 esv1984325 5 28849147 28849762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4701301 S 1 0 1 "" NA18507 nsv823042 5 28849156 28851241 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429033 S 31 1 0 "" AK12 nsv329735 5 28849334 28849586 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348313 M 24 "" nsv818338 5 28851719 28888873 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416344,nssv1416345 M 112 0 2 "" NA18855,NA18857 esv1418120 5 28854304 28854304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671480 S 2 1 0 "" HuRef nsv525121 5 28874857 28906260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701189 S 2026 0 1 "" nsv830243 5 28919826 29098561 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444359 S 95 1 0 LOC729862 esv24671 5 28963356 28968756 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20056,esv17870 M 451 0 3 "" NA12414,NA12749,NA19099 esv6711 5 28968845 28970655 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29152 S 1 0 0 "" SJK nsv523085 5 28991556 29181412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698777 S 2026 0 1 "" nsv880921 5 28995405 29164784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538083 S 6533 0 1 "" MS13480 nsv471009 5 29076712 29152463 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545113 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01286 nsv4774 5 29083536 29115576 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4828,nssv10447,nssv5989,nssv459,nssv3339 M 9 5 0 "" NA12156,NA12878,NA18956,NA19129,NA19240 nsv880987 5 29087637 29164784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593622 S 6533 0 1 "" IS39464 nsv823044 5 29097870 29102737 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431641 S 31 0 1 "" NA18592 nsv269 5 29101002 29113876 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv269 S 1 1 0 "" NA15510 nsv509060 5 29102763 29108107 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618038,nssv619414,nssv623440,nssv620816 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2445879 5 29104358 29106910 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337485 S 1 0 1 "" NA18507 esv8693 5 29105056 29105197 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31134 S 1 0 0 "" SJK nsv475048 5 29105081 29105385 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557979 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv499524 5 29105081 29105385 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586454 S 9 1 0 "" nsv10691 5 29107170 29108928 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15630 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv525210 5 29212286 29230629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701292 S 2026 0 1 "" nsv880414 5 29230629 29531321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538084 S 6533 0 1 "" MS13480 dgv6016n71 5 29254787 29502687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880605,nsv881552,nsv880722 M 6533 0 4 "" IS31758,MS12266,MS18978,MS22104 nsv462083 5 29290331 29363668 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538337 S 1557 0 1 "" 1782681024_A nsv823045 5 29294042 29294597 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423389 S 31 0 1 "" NA18999 dgv194n6 5 29304501 29304576 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329654,nsv329161 M 24 "" dgv6017n71 5 29322455 29476715 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880278,nsv881052 M 6533 2 0 "" MS17808,MS25675 nsv526816 5 29337526 29349199 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703170 S 2026 1 0 "" nsv880953 5 29351024 29614881 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545480,nssv1530069 M 6533 2 0 "" MS10187,MS16801 nsv881432 5 29365473 29476715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562318 S 6533 1 0 "" MS25509 dgv6018n71 5 29377897 29502687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880395,nsv880776 M 6533 0 2 "" MS13154,MS18620 esv6545 5 29377991 29378056 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28986 S 1 1 0 "" SJK nsv328368 5 29382473 29382523 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346946 M 24 "" esv21777 5 29426599 29432217 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17934 S 451 0 3 "" NA07037,NA12414,NA19257 dgv6019n71 5 29427587 29512926 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880732,nsv881567,nsv881210,nsv880386 M 6533 0 21 "" IS30490,IS30537,IS31233,IS31335,IS31651,IS31768,IS32615,IS33566,IS33846,IS35244,IS35743,IS39788,MS10727,MS10802,MS12071,MS15199,MS19634,MS20872,MS23290,MS25751,SP50101 nsv880455 5 29432801 29488308 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522010,nssv1567848,nssv1554557 M 6533 0 3 "" IS31166,MS20857,SP52694 dgv6020n71 5 29453961 29502687 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv880954,nsv880640,nsv881634,nsv880727 M 6533 21 20 "" IS30483,IS30522,IS31189,IS31587,IS31703,IS31812,IS32150,IS33166,IS34648,IS34856,IS35181,IS35196,IS35300,IS35919,IS36364,IS37167,IS37609,IS38330,IS39243,IS39333,IS39363,IS39961,IS41189,IS41687,MS11194,MS11355,MS12947,MS16708,MS16898,MS16944,MS16959,MS17235,MS17611,MS17642,MS18205,MS18267,MS24785,MS26061,SP54030,SP54753,SP58537 dgv6021n71 5 29455914 29512926 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880283,nsv880456,nsv881440 M 6533 0 4 "" IS31481,IS32289,IS41634,SP55747 nsv433370 5 29456116 29497730 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463251 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv26040 5 29461413 29504168 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20954 S 451 7 0 "" NA12044,NA12239,NA12287,NA12749,NA12776,NA15510,NA19129 nsv818339 5 29462349 29497730 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418452 S 112 0 1 "" NA19193 esv269015 5 29490322 29490661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518172,essv2514006 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA19143 esv275035 5 29512926 29514081 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585925 S 1250 0 1 "" dgv6022n71 5 29560265 29628832 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881075,nsv880443 M 6533 0 2 "" IS38063,IS40067 dgv6023n71 5 29560265 29656027 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880851,nsv880411 M 6533 0 3 "" IS31330,IS31419,MS15199 esv4106 5 29565896 29575977 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26547 S 1 0 1 Single Asian sample YH "" YH esv9618 5 29565942 29575823 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32059 S 1 0 1 "" SJK esv2089201 5 29568909 29569388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786720 S 1 0 1 "" NA18507 esv1197630 5 29569085 29569085 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993362 S 2 1 0 "" HuRef esv1139222 5 29569085 29569210 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956747 S 2 0 1 "" HuRef dgv6024n71 5 29593085 29656027 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880338,nsv881515,nsv880548,nsv881398,nsv881308 M 6533 0 6 "" IS31187,IS31323,IS31581,IS32615,IS39119,MS12968 dgv6025n71 5 29593085 29667394 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880905,nsv881480,nsv881014,nsv880830,nsv881669 M 6533 0 9 "" IS31137,IS31179,IS31904,IS32166,IS33616,IS35742,IS39944,MS12827,MS22104 nsv881452 5 29610532 29656027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566740 S 6533 0 1 "" IS30899 nsv523030 5 29614881 29656027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698713 S 2026 0 1 "" nsv880307 5 29623926 29707218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600771 S 6533 0 1 "" IS41924 nsv818340 5 29631893 29647646 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416927,nssv1416929 M 112 0 2 "" NA19137,NA19139 nsv818341 5 29631893 29656027 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418453,nssv1418147 M 112 0 2 "" NA19143,NA19193 esv26323 5 29657546 29673180 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15326 S 451 2 0 "" NA12006,NA12749 nsv441946 5 29661075 29670917 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv830244 5 29665879 29826368 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444360 S 95 0 1 "" esv29149 5 29722644 29725687 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18200 S 451 0 1 "" NA19114 dgv6026n71 5 29739878 29814905 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880992,nsv880737 M 6533 0 2 "" IS31145,IS31369 esv2254729 5 29743239 29743657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556217 S 1 0 1 "" NA18507 esv8327 5 29822786 29826534 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30768 S 1 0 0 "" SJK nsv462086 5 29824988 29829994 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538339 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01033 esv259560 5 29879578 29880014 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394158,essv2393783 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv259987 5 29879652 29880024 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396562,essv2396668,essv2399618,essv2397360,essv2396964,essv2395091,essv2397712,essv2397792,essv2399261,essv2398559,essv2396512,essv2394936,essv2400351,essv2395493,essv2400857,essv2397402,essv2397202,essv2400596,essv2398799,essv2400175,essv2400805,essv2398768,essv2398359 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11919,NA12414,NA12761,NA12878,NA12892,NA18486,NA18502,NA18505,NA18508,NA18516,NA18517,NA18545,NA18555,NA18563,NA18564,NA18566,NA18572,NA18576,NA18582,NA18608,NA18952,NA19005,NA19093 nsv821268 5 29889900 29891639 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420509 S 1 0 1 "" NA10851 nsv823046 5 29890065 29891612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431752 S 31 1 0 "" NA18592 nsv823047 5 29891173 29891612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424962,nssv1427481 M 31 2 0 "" AK2,AK8 esv2309217 5 29899325 29899798 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927327 S 1 0 1 "" NA18507 esv2080512 5 29904552 29904991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511087 S 1 0 1 "" NA18507 esv1356491 5 29904761 29904832 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233552 S 2 0 1 "" HuRef esv275273 5 29943615 29950249 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585396,essv2585960 M 1250 1 1 "" esv25962 5 29991409 29991859 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20132 S 451 0 1 "" NA18909 nsv881635 5 30157947 30406995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555418 S 6533 0 1 "" MS21325 esv275112 5 30199710 30203582 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585800 S 1250 0 1 "" nsv881357 5 30262176 30406995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577097 S 6533 0 1 "" IS34358 nsv521010 5 30278351 30293399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697734 S 2026 0 1 "" nsv462087 5 30443443 30536021 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538340 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00926 esv8643 5 30481369 30481450 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31084 S 1 1 0 "" SJK nsv507241 5 30483452 30489452 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622930,nssv620290 M 4 2 0 "" NA15510,NA18994 nsv4775 5 30513978 30550540 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv460 S 9 0 1 "" NA19240 nsv436458 5 30522240 30531880 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466209 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499389 5 30522909 30531451 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585949 S 9 0 1 "" esv2247004 5 30553802 30554227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4712236 S 1 0 1 "" NA18507 esv999429 5 30553982 30554065 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566120 S 3 0 1 "" HuRef esv1160396 5 30553983 30554067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671264 S 2 0 1 "" HuRef nsv328193 5 30554014 30554014 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346771 M 24 "" nsv880530 5 30767780 30836730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561290 S 6533 1 0 "" MS24918 nsv830245 5 30814851 30976270 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444363,nssv1444361 M 95 1 1 "" esv26271 5 30863674 30865867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14788 S 451 0 1 "" NA19108 dgv339n21 5 30879596 30952790 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525028,nsv527171 M 2026 0 2 "" nsv830246 5 30891484 30943899 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444364 S 95 1 0 "" nsv880845 5 30935274 31035873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575443 S 6533 0 1 "" IS33747 nsv462088 5 30942738 30969332 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538341 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00088 esv2599127 5 30950551 30952067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367413 S 1 0 1 "" NA18507 esv1981070 5 30951104 30952007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993511 S 1 0 1 "" NA18507 nsv513229 5 30951223 30954139 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626733 S 1 0 1 "" 1 esv1606035 5 30951280 30951816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252064 S 2 0 1 "" HuRef esv27461 5 30953814 30954359 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15959 S 451 1 0 "" NA12044 nsv327493 5 30965265 30965265 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346071 M 24 "" nsv881504 5 30982401 31035873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552707 S 6533 0 1 "" MS19587 esv267510 5 31018616 31024721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504323,essv2505766,essv2502189 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18861,NA19257 nsv830247 5 31083501 31256846 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444365 S 95 1 0 CDH6 nsv329333 5 31124688 31124688 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347911 M 24 "" dgv1788e1 5 31332034 31505885 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2532,esv131 M 271 0 0 CDH6,DROSHA NA19003 esv2561301 5 31382178 31385114 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269264 S 1 0 1 "" NA18507 esv2003094 5 31382526 31384374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504299 S 1 0 1 "" NA18507 esv21767 5 31383043 31383992 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17298 S 451 0 1 "" NA19129 esv25363 5 31388278 31389965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17470 S 451 0 2 "" NA11993,NA12004 nsv830249 5 31404845 31579045 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444366 S 95 1 0 C5orf22,DROSHA esv34132 5 31412880 31908908 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 C5orf22,DROSHA,PDZD2 nsv881382 5 31419659 31448628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590163 S 6533 1 0 DROSHA IS38464 nsv517653 5 31427163 31427528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672330,nssv656150,nssv652672,nssv679601,nssv670254,nssv666566,nssv656414 M 2026 0 7 "" nsv819630 5 31435540 31437018 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419273 S 2 1 0 DROSHA AK1 dgv340n21 5 31446063 31446385 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526060,nsv520307 M 2026 0 2 DROSHA nsv4776 5 31462311 31493745 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv461 S 9 1 0 DROSHA NA19240 esv8227 5 31628864 31628967 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30668 S 1 1 0 "" SJK esv2465816 5 31712262 31713804 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362748 S 1 0 1 "" NA18507 esv2103845 5 31713000 31713718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541631 S 1 0 1 "" NA18507 esv3127 5 31713130 31713592 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25568 S 1 0 1 Single Asian sample YH "" YH esv6267 5 31713188 31713505 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28708 S 1 0 1 "" SJK esv1437929 5 31713198 31713519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140310 S 2 0 1 "" HuRef nsv518370 5 31724438 31732698 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695797 S 2026 0 1 "" esv1100492 5 31727363 31727363 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137123 S 2 1 0 "" HuRef nsv515637 5 31728633 31747186 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664187,nssv677968 M 2026 0 2 "" nsv830250 5 31739010 31895411 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444367 S 95 1 0 PDZD2 nsv327837 5 31752437 31760236 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346415 M 24 "" nsv327480 5 31787955 31788445 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346058 M 24 "" nsv880590 5 31806568 31840108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546569 S 6533 0 1 PDZD2 MS17208 nsv515692 5 31814725 31823138 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670721,nssv662026,nssv685521,nssv664437,nssv686686 M 2026 5 0 "" esv22226 5 31926746 31930615 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15699 S 451 0 1 PDZD2 NA07037 esv1533065 5 31942041 31942041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978669 S 2 1 0 PDZD2 HuRef esv1011293 5 31977771 31985841 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565780 S 3 0 1 PDZD2 HuRef dgv1789e1 5 32047775 32239257 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21689,esv646 M 271 0 0 GOLPH3,PDZD2 NA12248 nsv830251 5 32078901 32239209 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444368 S 95 0 1 GOLPH3,PDZD2 nsv881577 5 32137157 32161599 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513655 S 6533 1 0 GOLPH3,PDZD2 SP55820 dgv6027n71 5 32137157 32185000 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880573,nsv881688,nsv881060 M 6533 3 0 GOLPH3,PDZD2 SP52271,SP54402,SP57329 essv2103 5 32137157 32185000 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GOLPH3,PDZD2 NA18959 dgv698n27 5 32137157 32205304 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462100,nsv462107,nsv462104,nsv462099,nsv462091,nsv462096,nsv462111,nsv462105,nsv462094,nsv462109,nsv462103,nsv462090,nsv462102,nsv462093,nsv462108,nsv462092,nsv462110,nsv462089,nsv462097,nsv462098,nsv462101 M 1557 21 0 GOLPH3,PDZD2 HGDP00001,HGDP00025,HGDP00029,HGDP00351,HGDP00519,HGDP00597,HGDP00750,HGDP00755,HGDP00884,HGDP01147,HGDP01156,HGDP01184,HGDP01187,HGDP01191,HGDP01212,HGDP01246,HGDP01247,HGDP01340,HGDP01349,HGDP01356,HGDP01401 dgv1790e1 5 32137157 32213541 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23309,essv18814 M 271 0 0 GOLPH3,PDZD2 NA12248,NA12264 dgv6028n71 5 32137157 32214268 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881016,nsv881491,nsv880574,nsv881612,nsv880777,nsv880475 M 6533 169 0 GOLPH3,PDZD2 IS30221,IS30307,IS30384,IS30413,IS30478,IS30562,IS30653,IS30814,IS30883,IS31045,IS31234,IS31804,IS32167,IS32429,IS32680,IS32805,IS32990,IS33192,IS33232,IS33256,IS33332,IS33576,IS33865,IS33867,IS34352,IS34378,IS34468,IS34648,IS34747,IS34797,IS34987,IS35041,IS35210,IS35489,IS35573,IS35728,IS35895,IS36173,IS36458,IS36678,IS36879,IS36936,IS37520,IS37850,IS37861,IS38008,IS38060,IS38099,IS38119,IS38126,IS38149,IS38264,IS38271,IS38274,IS38290,IS38356,IS38410,IS38479,IS38618,IS38804,IS39453,IS39457,IS39527,IS39637,IS39646,IS39716,IS40039,IS40067,IS40446,IS40538,IS40558,IS40588,IS40616,IS40646,IS40662,IS40677,IS40757,IS40840,IS41068,IS41308,IS41525,IS41774,IS41927,IS41938,MS10098,MS10301,MS10802,MS11159,MS11165,MS11980,MS12234,MS12615,MS12859,MS15065,MS15103,MS15600,MS15748,MS17028,MS17385,MS17779,MS17958,MS18422,MS19503,MS20627,MS21780,MS22089,MS24738,SP50038,SP50574,SP50627,SP50644,SP50691,SP50805,SP50836,SP50936,SP51021,SP51035,SP51082,SP51280,SP52051,SP52109,SP52282,SP52298,SP52371,SP52427,SP52545,SP52625,SP53280,SP53289,SP53448,SP53759,SP53969,SP54468,SP54648,SP54680,SP54988,SP55212,SP55321,SP55352,SP55433,SP55971,SP56032,SP56231,SP56260,SP56271,SP56377,SP56710,SP56788,SP57013,SP57062,SP57148,SP57322,SP57367,SP57449,SP57463,SP57545,SP57593,SP57651,SP58241,SP58467,SP58556,SP80977,SP81074,SP81092,SP81095,SP81228,SP81500,SP81501,SP81557 nsv517387 5 32137157 32225097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689249,nssv675818,nssv665343,nssv692617,nssv659254,nssv666703,nssv673070,nssv651993,nssv677310,nssv679681,nssv689430,nssv683810,nssv670293,nssv683367,nssv676452,nssv692921,nssv665298,nssv682711,nssv686508,nssv657727,nssv664903,nssv685781,nssv651873,nssv673833,nssv670079 M 2026 25 0 GOLPH3,PDZD2 dgv201e55 5 32137157 32232146 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34513,esv34731,esv35127,esv2752066 M 771 4 0 GOLPH3,PDZD2 NA12248,NA18562,NA18632,SPC_34 nsv880824 5 32137157 32243167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547772 S 6533 1 0 GOLPH3,PDZD2 MS17537 dgv941n67 5 32142258 32203868 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823049,nsv823048 M 31 3 0 GOLPH3,PDZD2 AK4,NA18526,NA18951 esv33235 5 32142588 32203365 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94468,essv94600,essv98639 M 51 3 0 GOLPH3,PDZD2 21808,21932,22085 nsv441947 5 32142837 32194212 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GOLPH3,PDZD2 dgv54n64 5 32142841 32181714 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818342,nsv818343 M 112 3 0 GOLPH3,PDZD2 NA12248,NA12264,NA18951 nsv514301 5 32142870 32205206 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627745 S 1414 1 0 GOLPH3,PDZD2 dgv202e55 5 32149900 32185000 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35103,esv2752067 M 771 2 0 GOLPH3 BEC_382,NA18951 dgv203e55 5 32149900 32295940 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752068,esv2752069,esv2752070 M 771 3 0 GOLPH3,MTMR12 BEC_175,BEC_333,BEC_588 dgv1791e1 5 32152371 32185000 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7654,essv2416 M 271 0 0 GOLPH3 NA18632,NA18951 dgv6029n71 5 32161891 32205304 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881327,nsv880560,nsv880328,nsv880662 M 6533 8 0 GOLPH3 SP51483,SP51485,SP53242,SP55264,SP55820,SP55843,SP58557,SP80986 nsv328059 5 32193869 32193869 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346637 M 24 GOLPH3 dgv1792e1 5 32281118 32774401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv66,essv10136 M 271 0 0 MTMR12,NPR3,SUB1,ZFR NA19130 nsv10692 5 32295082 32299225 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13398,nssv13136,nssv13344 M 31 0 3 Samples from several populations that are part of the HapMap project. MTMR12 NA18564,NA18975,NA19007 dgv942n67 5 32295882 32296931 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823050,nsv823051 M 31 0 4 MTMR12 AK12,AK6,NA18526,NA18564 nsv10693 5 32347179 32350337 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13779,nssv12992 M 31 2 0 Samples from several populations that are part of the HapMap project. MTMR12 NA07029,NA12740 esv24020 5 32348235 32348920 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19309 S 451 0 1 MTMR12 NA12414 dgv6030n71 5 32367937 32479369 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880752,nsv880501 M 6533 0 9 ZFR IS30899,IS33545,IS33832,IS34645,IS36527,IS37226,IS39011,IS39046,IS41113 esv1000159 5 32535460 32542037 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564797 S 3 0 1 "" HuRef nsv4778 5 32543182 32577300 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3340 S 9 1 0 "" NA12878 nsv329796 5 32607280 32607280 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348374 M 24 "" nsv527979 5 32650257 32657243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704496 S 2026 0 1 "" nsv10695 5 32688276 32719136 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14667 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 nsv329020 5 32746738 32751209 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347598 M 24 NPR3 nsv329971 5 32747435 32750367 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348549 M 24 NPR3 nsv520364 5 32762394 32763441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681201,nssv663254 M 2026 0 2 NPR3 esv2451636 5 32782572 32784080 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183282 S 1 0 1 NPR3 NA18507 nsv507242 5 32804579 32810579 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622931 S 4 1 0 NPR3 NA18994 nsv881099 5 32809408 32887794 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531100 S 6533 1 0 NPR3 MS10311 nsv881560 5 32809408 32923037 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555184 S 6533 1 0 NPR3 MS21218 esv1090795 5 32891898 32891898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992578 S 2 1 0 "" HuRef nsv880715 5 32944214 32963159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499312 S 6533 0 1 "" SP50035 nsv521635 5 32949686 32959049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698253 S 2026 0 1 "" esv272525 5 32961385 32961635 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584854,essv2583284 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269713 5 32961385 32961704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2568412,essv2523461,essv2531827,essv2548198,essv2525469,essv2547228,essv2529386,essv2540160,essv2557064,essv2532173,essv2569226,essv2558911,essv2538876,essv2527387,essv2541960,essv2527898,essv2562205,essv2575630,essv2574961,essv2549896,essv2546084,essv2574501 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12004,NA12006,NA12045,NA12156,NA12717,NA12749,NA18489,NA18501,NA18505,NA18508,NA18516,NA18519,NA18522,NA18856,NA18907,NA18909,NA19099,NA19138,NA19225,NA19239,NA19240 esv2255879 5 33009492 33009884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992431 S 1 0 1 "" NA18507 nsv523429 5 33058895 33093023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699184 S 2026 0 1 "" nsv881181 5 33079972 33150395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572206 S 6533 0 1 "" IS32891 esv24479 5 33147305 33148442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11475,esv19238 M 451 0 6 "" NA18505,NA18909,NA18916,NA19108,NA19147,NA19225 esv2221779 5 33147432 33148604 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907928 S 1 0 1 "" NA18507 nsv328710 5 33147624 33148425 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347288 M 24 "" esv2537529 5 33147652 33149036 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256167 S 1 0 1 "" NA18507 nsv881620 5 33155568 33318388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594416,nssv1586396,nssv1564496 M 6533 0 3 "" IS30224,IS37775,IS39860 nsv881199 5 33164578 33258977 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567764 S 6533 0 1 "" IS31145 nsv4779 5 33172890 33181133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8087 S 9 1 0 "" NA12156 nsv830252 5 33186038 33367387 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444369 S 95 1 0 "" esv273517 5 33210521 33211274 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581154 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv2538037 5 33236233 33237736 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264513 S 1 0 1 "" NA18507 esv2336843 5 33236430 33237115 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568298 S 1 0 1 "" NA18507 esv4418 5 33236567 33236982 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26859 S 1 0 1 Single Asian sample YH "" YH esv9345 5 33236586 33237023 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31786 S 1 0 1 "" SJK nsv328212 5 33236617 33236928 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346790 M 24 "" nsv522715 5 33355020 34073737 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698345 S 2026 1 0 ADAMTS12,AMACR,C1QTNF3,C1QTNF3-AMACR,RXFP3,SLC45A2,TARS esv2486138 5 33390978 33392343 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212978 S 1 0 1 "" NA18507 esv1966123 5 33391143 33391851 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603334 S 1 0 1 "" NA18507 esv993001 5 33391327 33391657 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576415 S 3 0 1 "" HuRef nsv328705 5 33391333 33391663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347283 M 24 "" nsv471010 5 33434957 33498868 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545114 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TARS HGDP01049 dgv699n27 5 33434957 33511557 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462112,nsv462113 M 1557 2 0 TARS HGDP01047,HGDP01057 nsv830253 5 33506188 33727121 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444370 S 95 0 1 ADAMTS12 nsv818344 5 33553984 33582189 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415758,nssv1415757 M 112 0 2 ADAMTS12 NA12865,NA12875 dgv1793e1 5 33557835 33584771 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24607,esv1414,essv24451 M 271 0 0 ADAMTS12 NA12865,NA12875 nsv525683 5 33614950 33615152 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701841 S 2026 0 1 ADAMTS12 esv26135 5 33632647 33633302 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19998 S 451 1 0 ADAMTS12 NA19129 nsv4780 5 33659148 33689992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3341,nssv2691 M 9 2 0 ADAMTS12 NA12878,NA18555 nsv509061 5 33667540 33676748 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620817,nssv623442 M 4 2 0 ADAMTS12 NA15510,NA18994 esv1004172 5 33668219 33669091 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564809 S 3 1 0 ADAMTS12 HuRef esv272783 5 33669064 33669743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580980,essv2579110,essv2579608 M 7 3 0 Samples from several populations that are part of the HapMap project. ADAMTS12 NA19238,NA19239,NA19240 esv271611 5 33669069 33669921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565732,essv2540792,essv2546229,essv2521282,essv2525856,essv2536738,essv2522846,essv2544190,essv2570923,essv2556643,essv2568339,essv2545676,essv2523182,essv2531806,essv2577532,essv2570431,essv2548259,essv2521738,essv2576647,essv2550643,essv2525543,essv2535456,essv2554242,essv2544501,essv2552281,essv2520673,essv2547487,essv2529088,essv2558685,essv2564432,essv2578031,essv2553705,essv2559697,essv2520142,essv2564122,essv2555155,essv2537549,essv2528380,essv2546776,essv2539989,essv2557511,essv2556965,essv2552368,essv2532071,essv2569617,essv2550033,essv2537135,essv2527364,essv2561567,essv2544876,essv2563014,essv2523836,essv2552907,essv2541284,essv2538409,essv2542804,essv2540466,essv2524516,essv2564832,essv2534708,essv2560990,essv2539580,essv2519799,essv2559956,essv2522081,essv2566302,essv2531208,essv2532522,essv2568041,essv2528893,essv2567319,essv2541659,essv2570123,essv2563819,essv2553163,essv2535748,essv2559213,essv2542207,essv2551158,essv2556318,essv2528169,essv2562167,essv2533906,essv2578224,essv2573111,essv2567229,essv2566591,essv2529876,essv2574061,essv2527670,essv2557675,essv2556013,essv2522630,essv2531539,essv2543173,essv2572183,essv2525671,essv2526899,essv2529740,essv2575396,essv2575215,essv2538806,essv2526685,essv2523974,essv2560881,essv2574590,essv2568615,essv2545160,essv2549691,essv2571280,essv2551504,essv2536119,essv2538058,essv2548966,essv2533113,essv2554347,essv2548024,essv2525036,essv2563152,essv2558181 M 157 120 0 Samples from several populations that are part of the HapMap project. ADAMTS12 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12815,NA12828,NA12872,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18858,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18961,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19172,NA19225,NA19238,NA19257 esv1490875 5 33669105 33669105 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796427 S 2 1 0 ADAMTS12 HuRef nsv509966 5 33702565 33708565 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622084,nssv623975,nssv618203 M 4 0 3 ADAMTS12 CHM,NA10860,NA18994 esv2306417 5 33724032 33724454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517214 S 1 0 1 ADAMTS12 NA18507 esv2623201 5 33724220 33724286 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182058 S 1 0 1 ADAMTS12 NA18507 nsv327771 5 33724221 33724287 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346349 M 24 ADAMTS12 esv24231 5 33724463 33725395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15783 S 451 0 1 ADAMTS12 NA12489 esv989506 5 33725191 33734640 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565497 S 3 0 1 ADAMTS12 HuRef nsv830254 5 33737269 33926014 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444371 S 95 0 1 ADAMTS12 nsv4781 5 33829514 33853796 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3342 S 9 1 0 ADAMTS12 NA12878 esv268005 5 33833276 33839384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495863,essv2503447,essv2508508,essv2493455,essv2508819,essv2500247,essv2502828,essv2499979,essv2504557,essv2500679,essv2508472,essv2499298,essv2496005,essv2505588,essv2495084 M 157 15 0 Samples from several populations that are part of the HapMap project. ADAMTS12 NA07051,NA12489,NA12716,NA12717,NA12763,NA12878,NA12891,NA12892,NA18558,NA18563,NA18571,NA18582,NA18605,NA18961,NA19005 esv273639 5 33833286 33839350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581974,essv2582459,essv2583234 M 7 3 0 Samples from several populations that are part of the HapMap project. ADAMTS12 NA12878,NA12891,NA12892 nsv4782 5 33859998 33887847 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4829 S 9 1 0 ADAMTS12 NA19129 dgv22e24 5 33862690 33863503 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750711,esv2750503,esv2750519,esv2750572,esv2750576,esv2750604,esv2750644,esv2750654,esv2750678 M 51 9 0 ADAMTS12 21791,21808,21817,21939,21944,22128,22217,22259,22275 esv270198 5 33869318 33869620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510643,essv2494318,essv2505871 M 157 3 0 Samples from several populations that are part of the HapMap project. ADAMTS12 NA18501,NA18502,NA18861 esv33441 5 33872365 33872476 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93368 S 51 1 0 ADAMTS12 22170 esv1422494 5 33885190 33885190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272903 S 2 1 0 ADAMTS12 HuRef esv32546 5 33888558 33888681 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93239 S 51 1 0 ADAMTS12 22170 nsv819474 5 33944642 33957030 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418630 S 2 0 1 "" AK1 nsv462114 5 33958315 33979974 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538366 S 1557 0 1 RXFP3 1780854206_A nsv830255 5 33965369 34145022 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444372 S 95 0 1 AMACR,C1QTNF3,C1QTNF3-AMACR,RXFP3,SLC45A2 nsv462115 5 33971700 34004647 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538367 S 1557 0 1 RXFP3,SLC45A2 1780854338_A nsv519240 5 33986460 34785173 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696733 S 2026 1 0 AMACR,C1QTNF3,C1QTNF3-AMACR,RAI14,SLC45A2 esv33876 5 33992948 33993116 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98915 S 51 0 1 SLC45A2 21606 esv32686 5 34021603 34024552 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99426 S 51 0 1 AMACR,C1QTNF3-AMACR 22335 esv33890 5 34025329 34030505 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98789,essv99509 M 51 1 1 AMACR,C1QTNF3-AMACR 21606,22335 nsv507243 5 34066120 34072120 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620291,nssv617667,nssv622932 M 4 3 0 C1QTNF3,C1QTNF3-AMACR CHM,NA15510,NA18994 nsv880910 5 34067771 34358821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527561 S 6533 0 1 C1QTNF3,C1QTNF3-AMACR SP58537 nsv830256 5 34081988 34278541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444376,nssv1444375,nssv1444374 M 95 3 0 C1QTNF3-AMACR esv26035 5 34110086 34120459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10485 S 451 0 1 C1QTNF3-AMACR NA19108 nsv880811 5 34123263 34212400 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555266 S 6533 0 1 C1QTNF3-AMACR MS21252 dgv6031n71 5 34123263 34254439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880376,nsv881696 M 6533 0 2 C1QTNF3-AMACR IS41859,MS17130 dgv1794e1 5 34134806 34405626 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19998,essv21247,essv2619,essv78,essv22160,essv16640,essv7408,essv9989,essv23176,essv22530,essv1466,essv17479,essv21313,essv12208,essv23020,essv24003,essv20177,essv24848,essv22927,essv4374,essv16989,esv446,essv16356,essv19967,essv18765,essv15331,essv2790,essv18113,essv18356,essv19511,essv10855,essv15111,essv16820,essv20653,essv23773,essv20578,essv18952,essv10760,essv17235,essv17462,essv22223 M 271 0 0 C1QTNF3-AMACR NA07000,NA07048,NA07056,NA07348,NA07357,NA10855,NA10857,NA11832,NA11993,NA11994,NA12005,NA12043,NA12044,NA12156,NA12716,NA12762,NA12763,NA12812,NA12813,NA12864,NA12874,NA12878,NA12892,NA18503,NA18523,NA18573,NA18623,NA18862,NA18871,NA18872,NA18944,NA18987,NA18990,NA18991,NA19099,NA19101,NA19129,NA19142,NA19144,NA19193 nsv428116 5 34134806 34405626 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450421,nssv450418,nssv450410,nssv450422,nssv450416,nssv450417,nssv450414,nssv450412,nssv450413,nssv450419,nssv450411,nssv450415 M 62 10 2 C1QTNF3-AMACR HGDP00449,HGDP00460,HGDP00463,HGDP00467,HGDP00472,HGDP00984,HGDP01086,HGDP01087,NA18916,NA19096,NA19189,NA19257 nsv469604 5 34134810 34296259 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649720 M 265 8 0 Samples from several populations that are part of the HapMap project. C1QTNF3-AMACR esv1163132 5 34149027 34149027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973150 S 2 1 0 C1QTNF3-AMACR HuRef nsv880975 5 34175676 34280064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564230 S 6533 0 1 "" IS30189 nsv4783 5 34198079 34219701 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2515,nssv9661,nssv9408,nssv11103,nssv4830,nssv5990 M 9 6 0 "" NA12156,NA15510,NA18507,NA18517,NA18555,NA19129 esv29184 5 34207383 34299116 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11819,esv10700,esv12672,esv16754 M 451 20 7 "" NA06985,NA07045,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA19099,NA19129,NA19240 dgv1795e1 5 34209763 34405626 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17969,essv11232,essv6592,essv20249,essv15464,essv1739,essv8809,essv23252,essv8154,essv18195,essv20889,essv2470,essv6715,essv9708,essv15589,essv330 M 271 0 0 "" NA07029,NA12003,NA12057,NA12144,NA12801,NA18505,NA18508,NA18608,NA18621,NA18913,NA18971,NA18997,NA18999,NA19137,NA19204,NA19206 nsv830257 5 34209792 34371608 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444383,nssv1444377,nssv1444382,nssv1444381,nssv1444379,nssv1444380,nssv1444378,nssv1444387,nssv1444386,nssv1444385 M 95 10 0 "" nsv10696 5 34214196 34293762 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15164,nssv14697,nssv15413,nssv13065,nssv12340,nssv13498,nssv12906,nssv13156,nssv14258,nssv15134,nssv12635,nssv14713,nssv13809,nssv13220,nssv13839,nssv13022,nssv15194,nssv13052,nssv12936,nssv12876 M 31 7 10 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA10863,NA12155,NA12740,NA12802,NA18504,NA18517,NA18537,NA18552,NA18853,NA18972,NA19132,NA19144 nsv469798 5 34214321 34317822 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649819 M 265 10 0 Samples from several populations that are part of the HapMap project. "" dgv1796e1 5 34214323 34296266 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv846,essv24655,essv3023,essv2652,essv15225,essv1886,essv8276,essv10915,essv16236,essv5471,essv24486,essv11049,essv13459,essv10133,essv21055,essv12752,essv1103,essv5563,essv10267 M 271 0 0 "" NA06991,NA11829,NA12802,NA18506,NA18529,NA18632,NA18914,NA18964,NA18967,NA18973,NA18976,NA18981,NA19094,NA19103,NA19130,NA19143,NA19161,NA19192,NA19209 nsv820977 5 34214420 34233154 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420510 S 1 1 0 "" NA10851 nsv819962 5 34215382 34232182 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418913 S 2 1 0 "" AK1 nsv270 5 34217277 34218567 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv270 S 1 1 0 "" NA15510 nsv4784 5 34220223 34242262 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5991,nssv9662,nssv462,nssv3343,nssv11104,nssv10448,nssv3344,nssv9409,nssv4831,nssv2516 M 9 9 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv509062 5 34221433 34221433 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619415 S 4 1 0 "" NA10860 nsv271 5 34226014 34226756 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv271 S 1 1 0 "" NA15510 esv2651401 5 34257101 34314443 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217917 S 1 0 1 "" NA18507 nsv881339 5 34267257 34384655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600439 S 6533 0 1 "" IS41884 nsv880697 5 34271963 34358821 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501686 S 6533 1 0 "" SP50798 esv32602 5 34287383 34287414 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99053 S 51 1 0 "" 21938 nsv880765 5 34314183 34436510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541143 S 6533 0 1 "" MS15199 esv2564138 5 34328747 34344086 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242916 S 1 0 1 "" NA18507 esv2565141 5 34339847 34344279 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350941 S 1 0 1 "" NA18507 nsv513230 5 34340012 34345246 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626734 S 1 0 1 "" 1 esv2074062 5 34340362 34343815 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630396 S 1 0 1 "" NA18507 dgv195n6 5 34340547 34343670 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329382,nsv329862 M 24 "" nsv830258 5 34345340 34476037 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444388 S 95 1 0 "" nsv4785 5 34362254 34396968 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv463 S 9 1 0 "" NA19240 esv2504245 5 34364769 34423625 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340046 S 1 0 1 "" NA18507 esv33649 5 34377110 34382850 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99199 S 51 1 0 "" 22275 nsv528066 5 34406288 34431629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704602 S 2026 0 1 "" esv1401813 5 34407363 34407363 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875982 S 2 1 0 "" HuRef nsv516223 5 34425616 34445932 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669392,nssv666905 M 2026 2 0 "" nsv462116 5 34425616 34490922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538368 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00905 esv271042 5 34495284 34495369 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517459,essv2514710,essv2518502,essv2518085,essv2516007,essv2517270,essv2519074 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12234,NA12287,NA12872,NA12873,NA18970,NA19141 esv270012 5 34495705 34499963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517512,essv2516950 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11931 nsv830260 5 34580482 34800161 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444389 S 95 1 0 RAI14 dgv196n6 5 34641677 34641744 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329437,nsv329496 M 24 "" nsv4786 5 34691850 34720062 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5992 S 9 1 0 RAI14 NA12156 esv24799 5 34692036 34693178 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13939,esv19509 M 451 0 3 RAI14 NA07037,NA07045,NA12414 esv26730 5 34726338 34727364 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16503 S 451 0 1 RAI14 NA12239 esv271666 5 34753770 34754016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540906,essv2546391,essv2521358,essv2531721,essv2521474,essv2550809,essv2520634,essv2547134,essv2564478,essv2578030,essv2555051,essv2520774,essv2552566,essv2532313,essv2569517,essv2550253,essv2537024,essv2561723,essv2523570,essv2540414,essv2524341,essv2561146,essv2539667,essv2519838,essv2559923,essv2567757,essv2567396,essv2527933,essv2578343,essv2573165,essv2573770,essv2527505,essv2531494,essv2577063,essv2529533,essv2575411,essv2526473,essv2524131,essv2574823,essv2568603,essv2571497,essv2546068,essv2574126,essv2537977,essv2563186 M 157 45 0 Samples from several populations that are part of the HapMap project. RAI14 NA07000,NA10847,NA11831,NA11881,NA11894,NA12006,NA12144,NA12155,NA12716,NA12717,NA12751,NA12761,NA12872,NA18498,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18537,NA18552,NA18555,NA18562,NA18563,NA18566,NA18570,NA18577,NA18582,NA18907,NA18940,NA18942,NA18951,NA18952,NA18961,NA18970,NA19093,NA19099,NA19114,NA19129,NA19138,NA19147,NA19238,NA19239,NA19240 esv274357 5 34753770 34754022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584115,essv2584735,essv2583519 M 7 3 0 Samples from several populations that are part of the HapMap project. RAI14 NA19238,NA19239,NA19240 nsv4787 5 34760274 34769639 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8088 S 9 1 0 RAI14 NA12156 nsv522144 5 34814128 34934061 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694917 S 2026 0 1 RAI14,TTC23L esv2235962 5 34890818 34891309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882030 S 1 0 1 TTC23L NA18507 esv4902 5 34890881 34891206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27343 S 1 0 1 Single Asian sample YH TTC23L YH nsv327644 5 34890982 34891091 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346222 M 24 TTC23L esv1002836 5 34891009 34891118 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567139 S 3 0 1 TTC23L HuRef nsv4789 5 34951752 34973073 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8089 S 9 0 1 BRIX1,DNAJC21 NA12156 esv28154 5 34964842 34965878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17281 S 451 0 1 DNAJC21 NA07045 esv2238937 5 35027047 35027447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607017 S 1 0 1 "" NA18507 nsv881607 5 35030357 35046629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527532 S 6533 0 1 AGXT2 SP58506 dgv6032n71 5 35058791 35120937 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881411,nsv880606,nsv881528 M 6533 3 0 AGXT2,PRLR SP50775,SP53876,SP58505 nsv4790 5 35126502 35159389 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8091 S 9 0 1 PRLR NA12156 esv992972 5 35158425 35158474 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585911 S 3 0 1 PRLR HuRef esv1447971 5 35158447 35158497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643174 S 2 0 1 PRLR HuRef esv2092288 5 35222911 35225330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962996 S 1 0 1 PRLR NA18507 nsv526901 5 35224233 35224972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703261 S 2026 0 1 PRLR esv3174 5 35226859 35227305 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25615 S 1 0 1 Single Asian sample YH PRLR YH nsv327901 5 35226908 35227244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346479 M 24 PRLR esv2267873 5 35231707 35232160 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539001 S 1 0 1 PRLR NA18507 nsv327297 5 35231895 35231944 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345875 M 24 PRLR esv1008308 5 35231896 35231945 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571395 S 3 0 1 PRLR HuRef esv1083244 5 35231921 35231971 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319896 S 2 0 1 PRLR HuRef esv267639 5 35274180 35274515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500396,essv2511259 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18570 nsv4791 5 35307724 35333303 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8092 S 9 0 1 "" NA12156 nsv4792 5 35415991 35450706 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv465 S 9 1 0 "" NA19240 nsv525477 5 35566662 35828747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701605 S 2026 0 1 SPEF2 nsv525994 5 35613014 35635967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702219 S 2026 0 1 "" esv2438181 5 35649551 35650907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215250 S 1 0 1 "" NA18507 esv2403812 5 35649748 35650453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577379 S 1 0 1 "" NA18507 esv4328 5 35649845 35650299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26769 S 1 0 1 Single Asian sample YH "" YH esv9359 5 35649938 35650241 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31800 S 1 0 1 "" SJK dgv6033n71 5 35694996 35750608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880510,nsv881146 M 6533 0 2 SPEF2 SP52093,SP52094 esv2001300 5 35707940 35708354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728988 S 1 0 1 SPEF2 NA18507 esv270434 5 35718178 35718447 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509660,essv2496365,essv2506133,essv2506856,essv2498895,essv2502013 M 157 6 0 Samples from several populations that are part of the HapMap project. SPEF2 NA18508,NA18510,NA18523,NA19102,NA19138,NA19257 nsv509064 5 35741947 35796915 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620819 S 4 1 0 SPEF2 NA15510 nsv515831 5 35742036 35759618 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654413,nssv664929 M 2026 2 0 SPEF2 esv2487237 5 35744180 35744709 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349105 S 1 1 0 SPEF2 NA18507 nsv507244 5 35745822 35751822 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621784,nssv622933,nssv617668 M 4 3 0 SPEF2 CHM,NA10860,NA18994 esv26311 5 35748898 35750109 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11960 S 451 1 0 SPEF2 NA18517 esv2264320 5 35770081 35770486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830397 S 1 0 1 SPEF2 NA18507 esv1699889 5 35786925 35786925 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363955 S 2 1 0 SPEF2 HuRef esv1009459 5 35788521 35788521 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580229 S 3 1 0 SPEF2 HuRef esv1670180 5 35788522 35788522 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954775 S 2 1 0 SPEF2 HuRef nsv329452 5 35788522 35788522 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348030 M 24 SPEF2 nsv4793 5 35846027 35858052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2517 S 9 1 0 SPEF2 NA18555 esv2156591 5 35877411 35877839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810958 S 1 0 1 "" NA18507 esv4578 5 35877535 35877782 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27019 S 1 0 1 Single Asian sample YH "" YH esv1124224 5 35877603 35877691 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903396 S 2 0 1 "" HuRef dgv6034n71 5 35886450 35896825 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881358,nsv881685,nsv881055 M 6533 0 16 IL7R SP50046,SP50691,SP51058,SP52055,SP52559,SP52688,SP54406,SP54726,SP55926,SP56861,SP56874,SP56880,SP57553,SP57925,SP58305,SP80936 dgv6035n71 5 35886450 35906571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880517,nsv880610 M 6533 0 2 IL7R SP56007,SP57027 nsv881045 5 35892332 35896825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502692,nssv1513831 M 6533 0 2 IL7R SP51339,SP55851 nsv880591 5 35895620 35906345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505571 S 6533 0 1 IL7R SP53687 nsv471011 5 35896825 36038974 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545115 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAPSL,IL7R,UGT3A1 HGDP00987 nsv830261 5 35898841 36053805 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444390 S 95 1 0 CAPSL,IL7R,UGT3A1 nsv4794 5 35942447 35969962 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8093 S 9 0 1 CAPSL NA12156 esv32711 5 36083554 36181923 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100880 S 51 1 0 LMBRD2,UGT3A2 21656 nsv830262 5 36110068 36329629 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444391 S 95 1 0 LMBRD2,MIR580,NADKD1,RANBP3L,SKP2 nsv4795 5 36141872 36186164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8094 S 9 0 1 LMBRD2,MIR580 NA12156 nsv524991 5 36192539 36193572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701020 S 2026 1 0 SKP2 nsv524075 5 36192539 36194151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699943 S 2026 0 1 SKP2 nsv881598 5 36284509 36418559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520937 S 6533 1 0 RANBP3L SP51328 esv270531 5 36355428 36355787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514655 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 esv4143 5 36393097 36393437 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26584 S 1 0 1 Single Asian sample YH "" YH nsv328071 5 36393133 36393323 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346649 M 24 "" nsv517278 5 36466512 36481559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692975,nssv654191 M 2026 0 2 "" nsv517187 5 36488228 36496219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692736,nssv668494,nssv653962,nssv671029,nssv673953 M 2026 0 5 "" nsv881666 5 36533940 36573126 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515824 S 6533 1 0 "" SP56289 esv1284832 5 36598245 36598245 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834476 S 2 1 0 "" HuRef nsv881025 5 36610778 36648810 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583839 S 6533 1 0 SLC1A3 IS36678 nsv830263 5 36612261 36790850 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444392 S 95 1 0 SLC1A3 nsv526573 5 36672573 36672974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702890 S 2026 0 1 SLC1A3 nsv880571 5 36711456 36745962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555522 S 6533 0 1 SLC1A3 MS21402 nsv528986 5 36725120 36727869 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705686 S 2026 0 1 "" esv29684 5 36746247 36746819 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17800 S 451 0 1 "" NA19190 nsv527961 5 36816808 36864487 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704471 S 2026 1 0 "" esv272839 5 36828337 36828422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582025,essv2583141,essv2584234 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv271757 5 36828344 36828463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546291,essv2521356,essv2522980,essv2570352,essv2576639,essv2550853,essv2552182,essv2564365,essv2553863,essv2537339,essv2546892,essv2550162,essv2569716,essv2544917,essv2538383,essv2542735,essv2540281,essv2524409,essv2549410,essv2560053,essv2521920,essv2528659,essv2570280,essv2563610,essv2535568,essv2559340,essv2578494,essv2567244,essv2522607,essv2523969,essv2530262,essv2571106,essv2549011 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11881,NA11894,NA11931,NA12044,NA12154,NA12155,NA12489,NA12751,NA12763,NA12878,NA12892,NA18511,NA18520,NA18526,NA18547,NA18550,NA18552,NA18555,NA18564,NA18570,NA18571,NA18579,NA18593,NA18603,NA18608,NA18638,NA18940,NA18947,NA18960,NA19129,NA19141,NA19238 nsv525478 5 36839982 37385652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701606 S 2026 0 1 C5orf42,NIPBL,NUP155 nsv830264 5 36922759 36977251 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444393 S 95 0 1 NIPBL esv2525217 5 36959658 36960915 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174415 S 1 0 1 NIPBL NA18507 dgv6036n71 5 36990569 37065642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881136,nsv881592 M 6533 0 2 NIPBL SP55878,SP57418 nsv880502 5 37038395 37059655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503866 S 6533 0 1 NIPBL SP52122 nsv881511 5 37124384 37588609 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504293 S 6533 1 0 C5orf42,NUP155,WDR70 SP52399 nsv830265 5 37187978 37347990 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444394 S 95 0 1 C5orf42,NUP155 nsv880406 5 37209687 37381027 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499324 S 6533 1 0 C5orf42,NUP155 SP50159 dgv6037n71 5 37209687 37592683 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880444,nsv880839,nsv880817,nsv881492 M 6533 4 0 C5orf42,NUP155,WDR70 IS41305,MS13363,MS18307,MS21242 nsv881512 5 37274997 37400450 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539419 S 6533 1 0 C5orf42,NUP155 MS14324 esv22337 5 37290450 37292618 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13273 S 451 0 2 "" NA07037,NA12287 nsv328371 5 37324628 37329864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346949 M 24 NUP155 esv2496620 5 37328945 37330692 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334965 S 1 0 1 NUP155 NA18507 dgv29e194 5 37329372 37330107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2201819,esv2399346 M 1 0 1 NUP155 NA18507 nsv329973 5 37329557 37329887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348551 M 24 NUP155 nsv881076 5 37330230 37514955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534513 S 6533 1 0 NUP155,WDR70 MS11641 esv2270645 5 37351199 37351543 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905480 S 1 0 1 NUP155 NA18507 nsv471012 5 37385652 37581755 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545116 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NUP155,WDR70 HGDP00620 nsv880327 5 37478836 37603024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592613 S 6533 1 0 WDR70 IS39243 nsv880890 5 37478836 37717403 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586770 S 6533 1 0 WDR70 IS37974 esv28527 5 37516928 37523332 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13339 S 451 0 3 WDR70 NA11931,NA12004,NA18508 nsv881383 5 37521073 37809634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539420 S 6533 1 0 WDR70 MS14324 nsv881497 5 37574817 37640613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503946 S 6533 0 1 WDR70 SP52137 nsv819667 5 37580776 37582899 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419388 S 2 0 1 WDR70 AK1 esv259629 5 37593661 37593927 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394107,essv2393909,essv2393787,essv2393725,essv2394072,essv2394298 M 6 0 0 Samples from several populations that are part of the HapMap project. WDR70 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv329607 5 37619377 37619439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348185 M 24 WDR70 esv2591687 5 37646950 37648572 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170031 S 1 0 1 WDR70 NA18507 esv267643 5 37684386 37684747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512589,essv2511738,essv2510793,essv2504320,essv2501136,essv2493774,essv2494804,essv2509121,essv2505382,essv2500936,essv2498465,essv2507160,essv2494102,essv2513353,essv2507402,essv2495575,essv2501393,essv2504642,essv2506959,essv2493536,essv2497509,essv2499798,essv2502226 M 157 23 0 Samples from several populations that are part of the HapMap project. WDR70 NA18489,NA18499,NA18501,NA18505,NA18516,NA18517,NA18519,NA18522,NA18853,NA18856,NA18858,NA18870,NA18871,NA18907,NA18912,NA18916,NA19093,NA19099,NA19102,NA19137,NA19147,NA19225,NA19257 esv270338 5 37724534 37724832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558219,essv2540682,essv2571572,essv2546610,essv2521446,essv2542456,essv2544145,essv2556510,essv2548195,essv2521591,essv2525213,essv2550409,essv2554231,essv2544398,essv2520363,essv2547621,essv2529288,essv2558514,essv2564680,essv2565381,essv2520133,essv2554828,essv2530857,essv2562929,essv2523521,essv2565007,essv2539592,essv2549498,essv2519856,essv2565940,essv2530919,essv2532631,essv2567863,essv2541540,essv2553121,essv2559370,essv2562455,essv2573064,essv2555738,essv2527429,essv2557748,essv2543168,essv2577104,essv2572179,essv2574616,essv2551467,essv2536326,essv2537885,essv2548982,essv2563449 M 157 50 0 Samples from several populations that are part of the HapMap project. WDR70 NA06986,NA07000,NA07037,NA10847,NA10851,NA11831,NA11840,NA11881,NA11894,NA11919,NA11992,NA11994,NA12045,NA12144,NA12156,NA12234,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12812,NA12815,NA12872,NA12873,NA18532,NA18537,NA18558,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18577,NA18592,NA18605,NA18638,NA18909,NA18942,NA18945,NA18952,NA18953,NA18965,NA18970,NA18973,NA19138,NA19257 esv26026 5 37875393 37876513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13245 S 451 0 1 GDNF NA07045 nsv881401 5 37885445 37937165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580012 S 6533 0 1 "" IS35222 esv1949621 5 37889258 37889695 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693275 S 1 0 1 "" NA18507 nsv881120 5 37944908 37965715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537837 S 6533 1 0 "" MS13383 nsv516350 5 37948752 37960996 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667732,nssv678873 M 2026 0 2 "" esv22167 5 38008323 38010301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12022 S 451 0 1 "" NA19190 nsv4796 5 38071925 38116277 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2518 S 9 0 1 "" NA18555 nsv880599 5 38081205 38135369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579719 S 6533 1 0 "" IS35169 esv271031 5 38170061 38170341 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496808,essv2510651,essv2509908 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18508 esv1651052 5 38170264 38170318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3607094 S 2 0 1 "" HuRef nsv442945 5 38180803 38184641 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv330192 5 38230193 38230193 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348770 M 24 "" esv275320 5 38245289 38247344 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585965 S 1250 0 1 "" nsv4797 5 38263396 38296044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2692 S 9 1 0 EGFLAM NA18555 nsv4798 5 38349379 38383583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3345 S 9 1 0 EGFLAM NA12878 nsv515705 5 38349568 38349827 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664488,nssv672486,nssv687058,nssv692879,nssv691236,nssv690246 M 2026 3 3 EGFLAM nsv518853 5 38349568 38361638 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696308 S 2026 1 0 EGFLAM nsv4800 5 38368483 38389984 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8095 S 9 0 1 EGFLAM NA12156 esv274020 5 38431630 38432095 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579078 S 7 1 0 Samples from several populations that are part of the HapMap project. EGFLAM NA19239 esv268909 5 38431884 38432000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502300,essv2500232,essv2501678,essv2507749,essv2496851,essv2511783,essv2510592,essv2493657,essv2494736,essv2506046,essv2497262,essv2505748,essv2495527,essv2500719,essv2498967,essv2510873,essv2493528,essv2497636,essv2497070,essv2499707,essv2512017,essv2501900,essv2502058,essv2495765,essv2499586 M 157 25 0 Samples from several populations that are part of the HapMap project. EGFLAM NA07000,NA07357,NA12004,NA12006,NA12144,NA12751,NA18498,NA18499,NA18501,NA18517,NA18519,NA18523,NA18545,NA18861,NA18916,NA18973,NA19114,NA19116,NA19137,NA19147,NA19190,NA19225,NA19238,NA19239,NA19257 nsv516065 5 38527160 38578046 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694879,nssv661000,nssv674033,nssv665957 M 2026 4 0 LIFR esv22263 5 38592024 38592813 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20000 S 451 0 2 LIFR NA07037,NA07045 nsv526152 5 38771041 38773640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702411 S 2026 0 1 "" esv1231679 5 38795665 38795665 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678950 S 2 1 0 "" HuRef esv1988154 5 38796142 38796587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953025 S 1 0 1 "" NA18507 nsv4801 5 38864799 38896333 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv466 S 9 1 0 OSMR NA19240 nsv329682 5 38867933 38868048 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348260 M 24 "" esv1157193 5 38867966 38867966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343344 S 2 1 0 "" HuRef esv1589521 5 38897824 38898019 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803457 S 2 0 1 OSMR HuRef esv1469708 5 38898112 38898286 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817054 S 2 0 1 OSMR HuRef esv3111 5 38903539 38904024 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25552 S 1 0 1 Single Asian sample YH OSMR YH esv2297322 5 38903577 38903954 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822615 S 1 0 1 OSMR NA18507 esv1003705 5 38903734 38903810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573293 S 3 0 1 OSMR HuRef esv1255876 5 38903775 38903852 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943782 S 2 0 1 OSMR HuRef nsv327488 5 38903860 38903936 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346066 M 24 OSMR nsv820160 5 38990797 38991610 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419090 S 2 0 1 RICTOR AK1 nsv529023 5 38991553 39155480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705734 S 2026 0 1 FYB,RICTOR nsv4802 5 39019637 39054067 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3346 S 9 1 0 RICTOR NA12878 esv1576101 5 39026590 39026590 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779147 S 2 1 0 RICTOR HuRef nsv528773 5 39030629 39031440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705437 S 2026 0 1 RICTOR nsv519072 5 39030629 39044671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696544 S 2026 0 1 RICTOR nsv818346 5 39030629 39044671 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418454 S 112 0 1 RICTOR NA19193 nsv4803 5 39067393 39112091 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8096 S 9 0 1 RICTOR NA12156 esv24079 5 39109761 39111083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10310 S 451 0 2 RICTOR NA07037,NA12414 nsv4804 5 39126844 39161014 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2694 S 9 1 0 FYB NA18555 nsv4805 5 39130957 39158451 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8097 S 9 0 1 FYB NA12156 esv1006514 5 39143894 39147049 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563903 S 3 1 0 FYB HuRef dgv6038n71 5 39319510 39374115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881516,nsv881441 M 6533 0 2 C9 MS18916,SP54223 esv272189 5 39328695 39329016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580150,essv2580360,essv2579950,essv2580674 M 7 4 0 Samples from several populations that are part of the HapMap project. C9 NA12878,NA12891,NA12892,NA19238 esv268626 5 39328709 39329047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565649,essv2546276,essv2556765,essv2570578,essv2548444,essv2521756,essv2576531,essv2550501,essv2535099,essv2520629,essv2547583,essv2577811,essv2553821,essv2559624,essv2576326,essv2520068,essv2564308,essv2528207,essv2546924,essv2578686,essv2523901,essv2539598,essv2519513,essv2560134,essv2528717,essv2567614,essv2570351,essv2559174,essv2571858,essv2545082,essv2536001,essv2533400,essv2554770,essv2525086,essv2563107,essv2558206 M 157 36 0 Samples from several populations that are part of the HapMap project. C9 NA06986,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11881,NA11994,NA12044,NA12045,NA12144,NA12154,NA12234,NA12249,NA12716,NA12717,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12891,NA12892,NA18510,NA18537,NA18563,NA18566,NA18570,NA18579,NA18582,NA18593,NA18638,NA18973,NA19172 esv1241962 5 39328734 39328734 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077941 S 2 1 0 C9 HuRef nsv516263 5 39339216 39346618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665344,nssv652686,nssv663221,nssv676453,nssv675970 M 2026 0 5 C9 nsv327295 5 39459194 39459194 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345873 M 24 DAB2 esv1006481 5 39459195 39459195 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582949 S 3 1 0 DAB2 HuRef esv1469374 5 39459196 39459196 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232049 S 2 1 0 DAB2 HuRef nsv327367 5 39459197 39459197 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345945 M 24 DAB2 esv272076 5 39541589 39541729 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510747,essv2509878,essv2496491,essv2508934,essv2509240,essv2506824,essv2499158,essv2510839,essv2501835,essv2498236 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18510,NA18522,NA18909,NA19102,NA19114,NA19116,NA19239,NA19240 esv272447 5 39541604 39541815 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584817,essv2583590 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv881053 5 39606595 39769946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600112 S 6533 1 0 "" IS41840 nsv462122 5 39660837 39673642 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538369 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01418 nsv437463 5 39841921 39865621 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467344 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv518616 5 39848641 39849016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696063 S 2026 0 1 "" nsv823052 5 39865333 39869770 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436605 S 31 0 1 "" NA18542 nsv526930 5 39884646 39889373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703297 S 2026 0 1 "" nsv509967 5 39906033 39912033 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621259 S 4 0 1 "" NA15510 dgv6039n71 5 39913976 40046108 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880865,nsv881453,nsv880961 M 6533 0 3 "" IS35028,MS10203,MS25976 nsv881625 5 39965527 40027612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549283 S 6533 0 1 "" MS18174 esv272944 5 39974189 39974531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581415 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv4806 5 39981833 40013728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9663 S 9 0 1 "" NA18507 esv2486688 5 40003989 40012962 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367982 S 1 0 1 "" NA18507 nsv436472 5 40004428 40013524 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466213 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2414784 5 40004474 40012572 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859421 S 1 0 1 "" NA18507 esv28403 5 40004712 40007532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10459 S 451 0 1 "" NA18505 nsv514302 5 40005748 40007032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627746 S 1414 0 1 "" esv2425559 5 40005789 40012647 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374737 S 1 0 1 "" NA18507 nsv830266 5 40059131 40213929 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444399,nssv1444398,nssv1444397,nssv1444396 M 95 1 3 "" nsv520373 5 40076044 40085676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675839,nssv663328,nssv689153 M 2026 0 3 "" esv269156 5 40077072 40083152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522995,essv2570712,essv2565369,essv2557126,essv2552396,essv2551827,essv2569395,essv2578510,essv2527060,essv2561447,essv2522201,essv2528746,essv2539283,essv2534092,essv2573969,essv2526623,essv2571282,essv2545741,essv2574217,essv2533199 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11931,NA12044,NA12812,NA18501,NA18502,NA18504,NA18508,NA18510,NA18522,NA18523,NA18571,NA18579,NA18912,NA18916,NA18951,NA19114,NA19238,NA19239,NA19240 esv274058 5 40077073 40083159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584147,essv2584481,essv2583626 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv525668 5 40085676 40086058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701825 S 2026 0 1 "" nsv818347 5 40086058 40091295 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415956 S 112 1 0 "" NA12750 esv272156 5 40101345 40101525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498371,essv2499938,essv2511251,essv2496007,essv2495116 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18562,NA18570,NA18961,NA18964 nsv507245 5 40104147 40110147 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621785 S 4 1 0 "" NA10860 nsv830267 5 40174552 40228438 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444401,nssv1444411,nssv1444403,nssv1444404,nssv1444410,nssv1444402,nssv1444409,nssv1444412,nssv1444408,nssv1444400,nssv1444405 M 95 8 3 "" esv272087 5 40217384 40217716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516654,essv2517123,essv2518774,essv2514876,essv2515419,essv2518566,essv2515120,essv2516488,essv2515675,essv2518076,essv2516126,essv2514493,essv2515823,essv2517337,essv2513983 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12045,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA18969,NA18970,NA19143 esv1070838 5 40217415 40217415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147708 S 2 1 0 "" HuRef nsv528114 5 40224199 40225242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704656 S 2026 0 1 "" nsv823053 5 40353931 40354440 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438809 S 31 1 0 "" NA18973 esv2421423 5 40371232 40387303 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5113624,essv5134584,essv5034405,essv5126496,essv5023198,essv5142071,essv5003600,essv5036572,essv5066409,essv5035567,essv5077042,essv5111002,essv5033011,essv5059652,essv5139174,essv5110481,essv5084246,essv5097223,essv5013821,essv5046264,essv5040552,essv5133191 M 1184 0 22 "" NA18852,NA19028,NA19101,NA19113,NA19115,NA19474,NA19909,NA20276,NA20277,NA21301,NA21302,NA21312,NA21313,NA21352,NA21415,NA21448,NA21608,NA21611,NA21614,NA21617,NA21620,NA21719 nsv441948 5 40371232 40387303 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514303 5 40371248 40383196 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627747 S 1414 0 1 "" nsv507246 5 40515614 40521614 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620292,nssv621786,nssv622934,nssv617669 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv880993 5 40557405 40718307 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588469 S 6533 0 1 PTGER4 IS38207 nsv330004 5 40584058 40584137 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348582 M 24 "" nsv507247 5 40598933 40604933 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617670,nssv621787,nssv620293,nssv622935 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv4807 5 40606557 40651536 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8098 S 9 0 1 "" NA12156 esv1005027 5 40630240 40630305 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583431 S 3 0 1 "" HuRef esv1277649 5 40630305 40630371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278809 S 2 0 1 "" HuRef nsv880539 5 40698014 40749402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504685 S 6533 0 1 PTGER4,TTC33 SP52708 dgv6040n71 5 40789634 40863064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881070,nsv881377 M 6533 0 2 LOC100506548,PRKAA1,TTC33 IS31041,IS39081 nsv880438 5 40789634 40936474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574718 S 6533 0 1 CARD6,LOC100506548,PRKAA1,RPL37,SNORD72,TTC33 IS33616 nsv328570 5 40836391 40836916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347148 M 24 "" nsv518711 5 40863064 40871384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696161 S 2026 0 1 LOC100506548,RPL37,SNORD72 nsv820142 5 40883148 40888105 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419673 S 2 0 1 CARD6 AK1 nsv881467 5 40905559 41044407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500758 S 6533 0 1 C7,HEATR7B2 SP50754 dgv1797e1 5 40909835 41045039 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4537,esv1302 M 271 0 0 C7,HEATR7B2 NA18566 nsv823055 5 40911465 41040596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435848 S 31 0 1 C7,HEATR7B2 NA18566 esv35077 5 40911600 41036428 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988194,essv6988195,essv6979541,essv6979542,essv6979543 M 771 0 1 C7,HEATR7B2 NA18566 nsv830268 5 40933118 41174123 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444413 S 95 1 0 C7,HEATR7B2 nsv880796 5 40970589 41021361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553058 S 6533 1 0 C7 MS19705 nsv823056 5 40976342 40991199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435849 S 31 0 1 C7 NA18566 esv1534008 5 40989715 40989715 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153738 S 2 1 0 C7 HuRef nsv507248 5 41003118 41009118 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617671,nssv622936 M 4 2 0 C7 CHM,NA18994 nsv823057 5 41017840 41018383 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435850 S 31 0 1 C7 NA18566 esv1086081 5 41018182 41018182 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618361 S 2 1 0 C7 HuRef nsv880339 5 41021841 41069938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533904 S 6533 1 0 HEATR7B2 MS11331 nsv526193 5 41089680 41090691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702455 S 2026 0 1 HEATR7B2 nsv515813 5 41115602 41120483 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664858,nssv669840 M 2026 0 2 "" esv2273943 5 41120437 41121016 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627235 S 1 0 1 "" NA18507 esv2566067 5 41120593 41122099 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177223 S 1 0 1 "" NA18507 nsv4808 5 41239011 41287742 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2519 S 9 0 1 C6 NA18555 nsv830269 5 41244870 41429293 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444414 S 95 1 0 C6,PLCXD3 nsv499625 5 41262570 41279725 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585950 S 9 0 1 C6 nsv462123 5 41265034 41270400 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538370 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C6 HGDP01223 nsv516193 5 41265034 41277367 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666705,nssv690578,nssv676644 M 2026 0 3 C6 nsv441950 5 41267255 41277150 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C6 nsv880314 5 41307363 41334483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562217 S 6533 1 0 "" MS25439 esv1936194 5 41447538 41447983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968111 S 1 0 1 PLCXD3 NA18507 nsv327751 5 41447688 41447771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346329 M 24 PLCXD3 esv1001467 5 41447742 41447827 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568397 S 3 0 1 PLCXD3 HuRef esv1518058 5 41447742 41447828 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838882 S 2 0 1 PLCXD3 HuRef nsv328702 5 41447757 41447844 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347280 M 24 PLCXD3 nsv881563 5 41595836 41651857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551869 S 6533 0 1 "" MS18999 nsv823058 5 41606693 41618230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435076 S 31 0 1 "" NA18942 nsv514304 5 41607056 41617028 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627749 S 1414 0 1 "" esv2421732 5 41607066 41619036 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5153172,essv5077775,essv5155851,essv5031011,essv5145772,essv5152364,essv5051155,essv5050817,essv5053176,essv5142778,essv5113968,essv5018834 M 1184 0 12 "" NA18613,NA18942,NA18971,NA18972,NA18975,NA19000,NA19002,NA19005,NA19007,NA19063,NA19067,NA19074 nsv441951 5 41607070 41617270 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818348 5 41608479 41615475 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417539,nssv1417636,nssv1417566 M 112 0 3 "" NA18971,NA18972,NA18992 nsv462124 5 41620836 41632026 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538371 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00664 nsv881628 5 41620836 41636408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512232,nssv1502899,nssv1500156,nssv1517449,nssv1517281,nssv1518279,nssv1519385,nssv1511773,nssv1504656,nssv1517009,nssv1501153,nssv1518921,nssv1517145,nssv1502467,nssv1502792 M 6533 0 15 "" SP50690,SP50753,SP51196,SP51413,SP51449,SP52700,SP55074,SP55355,SP57027,SP57197,SP57243,SP57274,SP57482,SP58561,SP81014 nsv823059 5 41621369 41632235 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426360,nssv1432855,nssv1438137 M 31 0 3 "" NA18947,NA18951,NA18972 nsv524669 5 41622162 41632026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700638 S 2026 0 1 "" nsv818349 5 41622162 41632026 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417399 S 112 0 1 "" NA18951 nsv441952 5 41623028 41630861 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv328830 5 41635203 41635880 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347408 M 24 "" nsv4809 5 41669507 41679190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8099 S 9 1 0 "" NA12156 nsv830271 5 41752284 41931467 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444415 S 95 0 1 OXCT1 nsv830272 5 41869122 42021924 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444416 S 95 1 0 C5orf51,FBXO4,OXCT1 nsv4811 5 41880279 41923110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8100 S 9 0 1 OXCT1 NA12156 nsv830273 5 41903053 42101827 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444417 S 95 1 0 C5orf51,FBXO4,OXCT1 nsv327668 5 41937140 41945587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346246 M 24 C5orf51 esv23495 5 41937628 41939416 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13889 S 451 0 5 "" NA18861,NA19108,NA19114,NA19190,NA19257 nsv880627 5 42002308 42123711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574062 S 6533 0 1 "" IS33507 nsv462125 5 42054867 42228377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538372 S 1557 0 1 "" 1782681195_A nsv507249 5 42055703 42061703 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620294 S 4 1 0 "" NA15510 nsv4812 5 42122297 42154972 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5993 S 9 1 0 "" NA12156 esv2652688 5 42125169 42125623 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215093 S 1 1 0 "" NA18507 nsv512850 5 42125198 42125745 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625491 S 1 1 0 "" 1 esv22544 5 42127774 42131656 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14264 S 451 0 2 "" NA18523,NA19147 esv2517681 5 42172051 42173448 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174028 S 1 0 1 "" NA18507 nsv4813 5 42193355 42237786 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5994 S 9 0 1 "" NA12156 esv2114337 5 42193851 42194270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849140 S 1 0 1 "" NA18507 esv2621343 5 42194032 42194085 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257954 S 1 0 1 "" NA18507 nsv513231 5 42201563 42203563 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626735 S 1 0 1 "" 1 esv3274 5 42201665 42203625 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25715 S 1 0 1 Single Asian sample YH "" YH esv7370 5 42201707 42203541 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29811 S 1 0 1 "" SJK nsv880518 5 42267653 42411000 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554101 S 6533 0 1 "" MS20616 dgv6041n71 5 42289854 42343471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881000,nsv881090 M 6533 0 2 "" MS20359,MS20710 nsv881375 5 42289854 42478472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554500,nssv1558746 M 6533 0 2 GHR MS20843,MS23531 nsv4814 5 42554492 42584402 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv467 S 9 1 0 GHR NA19240 esv1542037 5 42570140 42570208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328084 S 2 0 1 GHR HuRef esv993563 5 42599960 42600043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567847 S 3 0 1 GHR HuRef esv2415807 5 42614760 42615206 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592942 S 1 0 1 GHR NA18507 esv270396 5 42661586 42661922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514647,essv2516725,essv2518820,essv2515411,essv2516489 M 157 5 0 Samples from several populations that are part of the HapMap project. GHR NA11840,NA11881,NA12045,NA12249,NA12814 nsv511284 5 42661963 42667021 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625055 S 1 0 1 GHR 1 esv2602099 5 42663364 42667285 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229652 S 1 0 1 GHR NA18507 nsv513232 5 42663962 42667227 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626736 S 1 0 1 GHR 1 esv29345 5 42664005 42667027 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14363,esv18870 M 451 0 21 GHR NA07045,NA12004,NA12044,NA12239,NA12414,NA12489,NA12749,NA18508,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv3091 5 42664021 42667068 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25532 S 1 0 1 Single Asian sample YH GHR YH dgv143e180 5 42664117 42666846 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1007784,esv996134 M 3 0 1 GHR HuRef dgv943n67 5 42664635 42666846 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823061,nsv823060 M 31 0 5 GHR AK14,AK18,NA18566,NA18570,NA18582 esv2421813 5 42665755 42666741 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5098883,essv5075158,essv5155487,essv5023740,essv5086542,essv5098349,essv5043761,essv5072815,essv5151789,essv5099708,essv5154620,essv5045503,essv5090360,essv5038307,essv5024574,essv5045078,essv5009326,essv5025162,essv5068432,essv5019191,essv5110250,essv5046486,essv5158654,essv5141528,essv5058296,essv5009042,essv5061646,essv5007667,essv5139042,essv5062498,essv5097909,essv5104512,essv5139738,essv5094157,essv5116118,essv5077034,essv5029293,essv5078299,essv5124331,essv5121649,essv5013545,essv5013010,essv5034997,essv5115158,essv5117183,essv5149033,essv5032180,essv5129176,essv5159006,essv5126725,essv5088938,essv5081588,essv5085360,essv5074245,essv5054993,essv5113431,essv5113511,essv5121712,essv5137156,essv5123091,essv5111200,essv5004929,essv5146995,essv5014968,essv5048351,essv5029351,essv5124635,essv5002058,essv5088589,essv5114730,essv5113238,essv5155870,essv5064644,essv5094811,essv5096129,essv5093136,essv5021403,essv5139142,essv5010861,essv5156146,essv5016856,essv5060207,essv5150503,essv5009575,essv5042990,essv5039235,essv5020728,essv5147412,essv5151900,essv5090969,essv5088552,essv5070782,essv5047772,essv5039693,essv5136389,essv5093649,essv5005732,essv5149620,essv5013705,essv5115254,essv5080527,essv5084320,essv5095368,essv5093784,essv5094519,essv5098061,essv5122875,essv5092556,essv5145941,essv5141726,essv5063129,essv5136959,essv5046785,essv5064820,essv5020825,essv5160137,essv5020617,essv5112044,essv5110426,essv5090549,essv5013696,essv5077715,essv5139463,essv5126104,essv5160380,essv5026204,essv5125658,essv5036727,essv5047375,essv5075123,essv5040031,essv5117994,essv5004204,essv5156278,essv5157886,essv5013950,essv5031417,essv5066434,essv5089615,essv5076006,essv5068428,essv5090983,essv5011884,essv5121887,essv5086909,essv5014389,essv5058756,essv5041602,essv5093979,essv5089713,essv5133045,essv5076716,essv5047009,essv5038091,essv5053802,essv5111466,essv5079934,essv5030164,essv5095226,essv5055326,essv5145909,essv5002578,essv5058975,essv5032296,essv5041408,essv5095534,essv5139253,essv5028945,essv5079033,essv5130976,essv5045723,essv5057626,essv5093847,essv5090481,essv5071979,essv5107975,essv5029635,essv5077519,essv5156906,essv5004685,essv5038840,essv5155473,essv5008583,essv5077922,essv5057542,essv5109788,essv5116335,essv5058379,essv5027546,essv5152494,essv5128917,essv5091667,essv5019841,essv5053214,essv5080933,essv5122662,essv5056392,essv5048474,essv5004946,essv5133463,essv5096898,essv5139695,essv5080641,essv5033855,essv5094272,essv5075652,essv5011615,essv5052758,essv5112075,essv5032379,essv5005836,essv5152421,essv5085347,essv5150801,essv5047715,essv5061962,essv5034788,essv5131361,essv5047569,essv5083190,essv5128556,essv5005266,essv5011724,essv5055059,essv5126430,essv5147761,essv5155145,essv5065091,essv5092943,essv5076634,essv5084836,essv5086896,essv5011646,essv5098385,essv5057715,essv5017732,essv5133025,essv5089725,essv5156441,essv5085444,essv5087426,essv5070667,essv5149345,essv5106774,essv5048458,essv5093718,essv5065832,essv5147035,essv5006307,essv5133107,essv5033912,essv5028641,essv5067706,essv5002046,essv5075988,essv5047730,essv5149419,essv5047420,essv5032324,essv5040736,essv5130259,essv5020980,essv5132029,essv5148053,essv5127112,essv5024250,essv5053667,essv5039432,essv5039168,essv5127520,essv5125689,essv5149713,essv5129392,essv5048760,essv5123242,essv5063525,essv5026911,essv5018020,essv5017490,essv5041031,essv5089702,essv5041932,essv5001955,essv5007019,essv5141360,essv5148723,essv5128599,essv5006634,essv5157326,essv5037994,essv5018566,essv5087793,essv5144313,essv5015505,essv5050779,essv5034431,essv5005069,essv5099734,essv5115149,essv5123502,essv5036568,essv5134815,essv5159202,essv5091418,essv5131535,essv5148664,essv5061513,essv5032601,essv5080222,essv5154918,essv5133180,essv5007052,essv5115779,essv5064529,essv5003403,essv5021997,essv5143140,essv5020726,essv5058632,essv5120658,essv5072869,essv5095547,essv5157024,essv5004042,essv5081812,essv5010686,essv5033879,essv5010445,essv5021361,essv5027717,essv5130110,essv5078567,essv5153344,essv5140970,essv5135849,essv5071643,essv5082760,essv5101423,essv5127715,essv5059638,essv5028289,essv5046831,essv5140367,essv5037174,essv5098910,essv5142831,essv5114204,essv5066350,essv5103507,essv5121544,essv5054307,essv5120236,essv5007521,essv5072920,essv5112475,essv5023806,essv5012220,essv5133713,essv5142018,essv5140583,essv5003383,essv5128532,essv5127295,essv5021877,essv5127098,essv5073901,essv5144598,essv5122333,essv5115200,essv5024885,essv5015939,essv5135022,essv5043872,essv5094156,essv5108414,essv5093976,essv5107758,essv5113927,essv5098160,essv5125344,essv5106696,essv5087899,essv5059435,essv5161084,essv5002764,essv5044055,essv5136489,essv5099411,essv5125017,essv5039550,essv5151145,essv5039749,essv5142677,essv5104424,essv5031052,essv5025410,essv5013001,essv5013598,essv5006714,essv5053564,essv5048991,essv5094455,essv5108465,essv5054800,essv5124926,essv5113869,essv5032225,essv5002959,essv5037727,essv5116132,essv5016336,essv5030247,essv5107693,essv5125229,essv5056199,essv5072694,essv5126150,essv5027169,essv5012823,essv5153071,essv5156674,essv5026942,essv5075936,essv5118235,essv5096791,essv5059146,essv5094039,essv5136277,essv5118782,essv5067386,essv5100369,essv5141811,essv5050636,essv5061306,essv5091117,essv5127795,essv5090905,essv5125858,essv5064803,essv5071328,essv5067597,essv5133618,essv5148502,essv5061298,essv5060353,essv5088569,essv5092898,essv5115736,essv5085067,essv5011432,essv5097173,essv5073411,essv5098899,essv5133223,essv5100510,essv5068605,essv5082823,essv5034287,essv5149373,essv5141353,essv5029278,essv5145475,essv5061960,essv5018513,essv5002330,essv5084036,essv5081746,essv5151422,essv5132220,essv5151298,essv5126352,essv5143010,essv5127433,essv5146731,essv5084302,essv5096148,essv5086130,essv5030829,essv5121150,essv5158927,essv5119786,essv5103842,essv5122801,essv5079600,essv5100051,essv5093943,essv5092057,essv5108586,essv5106739,essv5100518,essv5058647,essv5108887,essv5002000,essv5090912,essv5096266,essv5146715,essv5125713,essv5105733,essv5147174,essv5043236,essv5039197,essv5152848,essv5011132,essv5048699,essv5072927,essv5151460,essv5090083,essv5157533,essv5135163,essv5080079,essv5007485,essv5019284,essv5154424,essv5094944,essv5161125,essv5021968,essv5040502,essv5152400,essv5128534,essv5087331,essv5102364,essv5063927,essv5142310,essv5003049,essv5006820,essv5149432,essv5032796,essv5143904,essv5059597,essv5063685,essv5148578,essv5157828,essv5077508,essv5069053,essv5138983,essv5144438,essv5110913,essv5101156,essv5080559,essv5091466,essv5077187,essv5020348,essv5138874,essv5060603,essv5049800,essv5130586,essv5147442,essv5104966,essv5159032,essv5144763,essv5130461,essv5007958,essv5089184,essv5046877,essv5140801,essv5066579,essv5152855,essv5023240,essv5132045,essv5082448,essv5007682,essv5135465,essv5088423,essv5083429,essv5145153,essv5142650,essv5033526,essv5096107,essv5060647,essv5034445,essv5075033,essv5146249,essv5101303,essv5160338,essv5105617,essv5021196,essv5002078,essv5028013,essv5020711,essv5106274,essv5082262,essv5051193,essv5031261,essv5105518,essv5013137,essv5037937,essv5048439,essv5057677,essv5046525,essv5095091,essv5127670,essv5147903,essv5063922,essv5043206,essv5132350,essv5076139,essv5095978,essv5079661,essv5122873,essv5017984,essv5054480,essv5048278,essv5025714,essv5079752,essv5093816,essv5066628,essv5122124,essv5154009,essv5062745,essv5025436,essv5120089,essv5150605,essv5030608,essv5054353,essv5115583,essv5011388,essv5078653,essv5062132,essv5046002,essv5081866 M 1184 0 620 GHR NA06997,NA07000,NA07014,NA07045,NA07051,NA07055,NA07056,NA07347,NA07349,NA07357,NA07435,NA10839,NA10840,NA10843,NA10846,NA10852,NA10853,NA10859,NA10861,NA11829,NA11831,NA11832,NA11840,NA11881,NA11882,NA11891,NA11920,NA11992,NA11994,NA12005,NA12044,NA12045,NA12144,NA12145,NA12154,NA12239,NA12249,NA12264,NA12272,NA12283,NA12286,NA12336,NA12341,NA12342,NA12344,NA12348,NA12383,NA12413,NA12489,NA12546,NA12718,NA12739,NA12748,NA12749,NA12752,NA12761,NA12763,NA12766,NA12767,NA12775,NA12778,NA12802,NA12812,NA12814,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12843,NA12865,NA12874,NA12875,NA12877,NA12889,NA12890,NA17968,NA17977,NA17981,NA17986,NA17990,NA18105,NA18106,NA18108,NA18128,NA18129,NA18133,NA18139,NA18140,NA18143,NA18149,NA18152,NA18154,NA18157,NA18159,NA18161,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18519,NA18520,NA18536,NA18543,NA18545,NA18548,NA18558,NA18559,NA18561,NA18563,NA18566,NA18570,NA18573,NA18579,NA18582,NA18593,NA18594,NA18602,NA18605,NA18611,NA18618,NA18620,NA18624,NA18631,NA18632,NA18637,NA18670,NA18685,NA18689,NA18702,NA18749,NA18757,NA18852,NA18853,NA18854,NA18857,NA18859,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18925,NA18930,NA18933,NA18935,NA18939,NA18940,NA18943,NA18944,NA18948,NA18956,NA18957,NA18961,NA18967,NA18971,NA18974,NA18993,NA18995,NA19007,NA19027,NA19031,NA19036,NA19041,NA19044,NA19054,NA19074,NA19076,NA19080,NA19081,NA19083,NA19086,NA19087,NA19094,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19108,NA19114,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19127,NA19128,NA19130,NA19131,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19146,NA19147,NA19148,NA19149,NA19150,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19190,NA19192,NA19193,NA19198,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19213,NA19215,NA19224,NA19225,NA19226,NA19235,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19311,NA19313,NA19314,NA19315,NA19316,NA19319,NA19324,NA19327,NA19332,NA19346,NA19347,NA19350,NA19352,NA19372,NA19373,NA19374,NA19375,NA19376,NA19384,NA19385,NA19390,NA19391,NA19394,NA19396,NA19397,NA19399,NA19403,NA19404,NA19429,NA19431,NA19436,NA19437,NA19438,NA19439,NA19440,NA19445,NA19449,NA19451,NA19452,NA19456,NA19462,NA19466,NA19467,NA19469,NA19470,NA19471,NA19472,NA19473,NA19625,NA19658,NA19660,NA19662,NA19670,NA19671,NA19675,NA19677,NA19679,NA19685,NA19700,NA19701,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19716,NA19718,NA19720,NA19722,NA19723,NA19724,NA19747,NA19755,NA19770,NA19771,NA19777,NA19782,NA19784,NA19818,NA19819,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19909,NA19914,NA19915,NA19917,NA19919,NA19921,NA19982,NA19985,NA20126,NA20127,NA20128,NA20129,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20334,NA20335,NA20336,NA20337,NA20341,NA20342,NA20343,NA20344,NA20345,NA20347,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20505,NA20509,NA20512,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20528,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20543,NA20544,NA20588,NA20589,NA20753,NA20756,NA20759,NA20769,NA20770,NA20775,NA20778,NA20783,NA20785,NA20795,NA20796,NA20797,NA20800,NA20801,NA20802,NA20804,NA20807,NA20812,NA20813,NA20816,NA20818,NA20819,NA20828,NA20845,NA20850,NA20851,NA20854,NA20856,NA20862,NA20869,NA20870,NA20872,NA20875,NA20877,NA20881,NA20882,NA20883,NA20890,NA20891,NA20898,NA20900,NA20901,NA20903,NA20906,NA20907,NA20910,NA21086,NA21089,NA21092,NA21103,NA21104,NA21105,NA21107,NA21118,NA21123,NA21125,NA21295,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21344,NA21352,NA21355,NA21356,NA21357,NA21359,NA21360,NA21362,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21405,NA21408,NA21414,NA21415,NA21417,NA21421,NA21434,NA21435,NA21436,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21453,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21514,NA21519,NA21521,NA21522,NA21523,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21578,NA21580,NA21582,NA21583,NA21587,NA21597,NA21599,NA21601,NA21608,NA21611,NA21615,NA21616,NA21617,NA21620,NA21631,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21693,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21768,NA21776,NA21826 esv271660 5 42702019 42702356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541078,essv2543983,essv2552034,essv2578053,essv2565407,essv2562134,essv2527279,essv2566738,essv2528063,essv2562476,essv2574695,essv2572818,essv2568822,essv2560262,essv2545996,essv2574534,essv2551486,essv2532959 M 157 18 0 Samples from several populations that are part of the HapMap project. GHR NA07051,NA11831,NA11992,NA12489,NA12761,NA12812,NA12874,NA18522,NA18853,NA18907,NA18909,NA19138,NA19143,NA19147,NA19190,NA19239,NA19240,NA19257 esv273197 5 42702021 42702358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584415,essv2583676 M 7 2 0 Samples from several populations that are part of the HapMap project. GHR NA19239,NA19240 esv270855 5 42755673 42755808 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497278,essv2500057,essv2508278,essv2506373,essv2511268,essv2510060,essv2499263,essv2511655,essv2503133,essv2495946 M 157 10 0 Samples from several populations that are part of the HapMap project. GHR NA18545,NA18558,NA18561,NA18566,NA18570,NA18593,NA18605,NA18940,NA18943,NA18961 nsv462126 5 42764588 43272945 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538373 S 1557 1 0 C5orf39,CCDC152,LOC100132356,LOC153684,LOC648987,NIM1,SEPP1,ZNF131 1788485590_A esv999397 5 42770419 42780777 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563978 S 3 0 1 "" HuRef nsv523033 5 42787794 42955442 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698716 S 2026 1 0 CCDC152,SEPP1 nsv528880 5 42975987 43002972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705560 S 2026 0 1 "" nsv515883 5 42985445 43002972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662776,nssv670787,nssv673351,nssv672538,nssv670080,nssv665136 M 2026 0 6 "" nsv881436 5 43002972 43044674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546570 S 6533 0 1 "" MS17208 dgv6042n71 5 43002972 43066555 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880415,nsv880447,nsv881640 M 6533 0 3 LOC648987 IS32322,SP56426,SP57355 nsv4815 5 43009307 43041927 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3347 S 9 1 0 "" NA12878 esv1021275 5 43017278 43017744 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842440 S 2 0 1 "" HuRef esv1236120 5 43067925 43067925 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624516 S 2 1 0 "" HuRef esv1664146 5 43068048 43068048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588248 S 2 1 0 "" HuRef nsv327225 5 43079902 43079902 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345803 M 24 LOC153684 nsv830274 5 43131308 43261844 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444419 S 95 0 1 NIM1,ZNF131 nsv508352 5 43273587 43426819 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618764 S 4 0 1 CCL28,HMGCS1,NIM1 NA10860 esv33224 5 43290354 43290796 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101598,essv98918,essv97515,essv100775,essv94364,essv95688,essv93035,essv99063,essv96005,essv99586,essv98070,essv99210,essv98423,essv96307 M 51 0 14 NIM1 21603,21606,21616,21656,21808,21841,21863,21938,22127,22217,22259,22275,22352,22371 esv270888 5 43394301 43394386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519125 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 dgv6043n71 5 43480583 43836090 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881017,nsv881108 M 6533 2 0 C5orf28,C5orf34,NNT,PAIP1 SP50985,SP52202 esv2597772 5 43484722 43484966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249733 S 1 0 1 C5orf28 NA18507 nsv830275 5 43505268 43675141 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444420 S 95 1 0 C5orf28,C5orf34,NNT,PAIP1 esv1126251 5 43553681 43553681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4062583 S 2 1 0 "" HuRef esv2386883 5 43559219 43559637 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899003 S 1 0 1 "" NA18507 nsv823062 5 43565122 43566012 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434413 S 31 1 0 PAIP1 NA18570 esv2550683 5 43576865 43577390 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273011 S 1 1 0 PAIP1 NA18507 nsv512851 5 43576995 43577202 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625492 S 1 1 0 PAIP1 1 esv270544 5 43577524 43577872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514628,essv2515118,essv2516061,essv2517837,essv2513900,essv2518257,essv2513717 M 157 7 0 Samples from several populations that are part of the HapMap project. PAIP1 NA07347,NA11840,NA12812,NA12873,NA12878,NA19143,NA19240 esv273191 5 43577524 43577872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581512,essv2581223 M 7 2 0 Samples from several populations that are part of the HapMap project. PAIP1 NA12878,NA19240 esv27940 5 43592140 43593249 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12689 S 451 0 2 PAIP1 NA07045,NA12414 esv275326 5 43797919 43811289 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585493 S 1250 0 1 "" nsv823063 5 43820258 43822415 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429793 S 31 0 1 "" AK14 esv267782 5 43906578 43906919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526245,essv2520348,essv2558297,essv2520031,essv2528974 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12716,NA12750,NA12815,NA18579 esv1009911 5 43954031 43965396 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563554 S 3 0 1 "" HuRef nsv830276 5 43987187 44186612 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444436,nssv1444435,nssv1444434,nssv1444421,nssv1444422,nssv1444424,nssv1444423,nssv1444433,nssv1444425,nssv1444430,nssv1444427,nssv1444426,nssv1444432,nssv1444431,nssv1444428 M 95 15 0 "" esv2261550 5 44198108 44198553 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765563 S 1 0 1 "" NA18507 nsv330153 5 44315458 44317779 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348731 M 24 "" nsv4816 5 44343102 44387769 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8101 S 9 0 1 FGF10 NA12156 nsv830277 5 44419159 44602638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444438,nssv1444437 M 95 2 0 FGF10 nsv830278 5 44576620 44749069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444439 S 95 0 1 "" nsv880457 5 44667765 44836422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548107,nssv1577874 M 6533 0 2 "" IS34599,MS17697 nsv830279 5 44723932 44896572 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444441 S 95 1 0 MRPS30 nsv880712 5 44813635 44878017 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557565 S 6533 0 1 MRPS30 MS22756 dgv6044n71 5 44819012 44975050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880397,nsv881564 M 6533 0 2 MRPS30 MS22146,MS23257 nsv513233 5 44829860 44832877 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626737 S 1 0 1 "" 1 esv2481524 5 44830141 44831613 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246498 S 1 0 1 "" NA18507 esv1931459 5 44830578 44831515 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672708 S 1 0 1 "" NA18507 esv7480 5 44830756 44831344 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29921 S 1 0 1 "" SJK dgv6045n71 5 44831799 44878017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881629,nsv880618,nsv881184 M 6533 0 12 MRPS30 IS34737,IS34797,IS34805,IS35622,IS41921,IS41955,MS19277,MS19721,MS20708,MS20850,MS21397,MS22662 nsv881280 5 44836422 44857493 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513884 S 6533 0 1 MRPS30 SP55864 nsv881418 5 44836422 44904857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556426 S 6533 0 1 MRPS30 MS22008 nsv462127 5 44839506 44869990 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538374 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MRPS30 HGDP00805 dgv6046n71 5 44841683 44878017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880838,nsv881498 M 6533 0 2 MRPS30 IS30196,MS20630 nsv880483 5 44863049 45073783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552618 S 6533 1 0 "" MS19533 nsv462129 5 44912045 44952546 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538375 S 1557 0 1 "" 1798860072_A nsv507250 5 44925834 44931834 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622937,nssv621788,nssv620295 M 4 3 0 "" NA10860,NA15510,NA18994 nsv508353 5 45032843 45062055 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617509 S 4 0 1 "" CHM nsv511310 5 45039050 45073783 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625343 S 1 0 1 "" 1 nsv821461 5 45040232 45050290 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420511 S 1 0 1 "" NA10851 dgv944n67 5 45040232 45050312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823067,nsv823064,nsv823066 M 31 0 8 "" AK12,AK20,AK4,NA18942,NA18951,NA18969,NA18997,NA18999 nsv513234 5 45040499 45050391 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626738 S 1 0 1 "" 1 esv24040 5 45040519 45050251 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17824 S 451 34 1 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819261 5 45040570 45050097 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418580 S 2 1 0 "" AK1 nsv830280 5 45103530 45286514 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444444,nssv1444443,nssv1444442,nssv1444445 M 95 4 0 "" esv274483 5 45112670 45112812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580800,essv2578997 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv2461328 5 45162740 45164368 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383093 S 1 0 1 "" NA18507 esv1994739 5 45162803 45163618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968303 S 1 0 1 "" NA18507 esv23029 5 45227446 45229576 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21194 S 451 0 2 "" NA12239,NA12287 esv2422014 5 45227949 45248448 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5061077,essv5156943,essv5009982,essv5040861,essv5079810,essv5035352,essv5057322,essv5099355,essv5137318,essv5082148,essv5074798,essv5154323,essv5064435,essv5082438 M 1184 0 14 "" NA19189,NA19332,NA19429,NA20344,NA20345,NA20349,NA21307,NA21438,NA21451,NA21576,NA21582,NA21616,NA21716,NA21741 nsv881159 5 45285361 45442078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532712 S 6533 0 1 HCN1 MS10816 esv273922 5 45293778 45294054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580484,essv2580031 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv269739 5 45293781 45293925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507714,essv2501103,essv2494939,essv2505298,essv2507127,essv2501270,essv2506520,essv2510944,essv2509623,essv2498725,essv2501731,essv2498176 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA12751,NA18516,NA18520,NA18853,NA18870,NA19093,NA19108,NA19116,NA19129,NA19138,NA19239,NA19240 nsv881442 5 45327271 45492834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579284 S 6533 0 1 HCN1 IS35083 nsv880612 5 45331037 45413964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514424 S 6533 0 1 HCN1 SP56004 nsv462131 5 45339429 45445657 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538376 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HCN1 HGDP01238 nsv881063 5 45339429 45447683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554406 S 6533 0 1 HCN1 MS20785 nsv462132 5 45361672 45506180 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538377 S 1557 0 1 HCN1 NINDS_222 nsv4817 5 45370355 45403864 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4832 S 9 1 0 HCN1 NA19129 nsv508354 5 45371755 45398576 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619954 S 4 0 1 HCN1 NA15510 dgv6047n71 5 45379567 45506180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881636,nsv881680 M 6533 0 12 HCN1 IS30899,IS31044,IS31401,IS31758,IS31765,IS35743,IS38263,IS40067,MS15199,MS18648,MS18978,MS25617 nsv462134 5 45400632 45492834 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538378 S 1557 0 1 HCN1 1780862470_A esv2443570 5 45407488 45412748 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195012 S 1 0 1 HCN1 NA18507 esv1045808 5 45408472 45408472 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601465 S 2 1 0 HCN1 HuRef esv2395643 5 45409336 45409851 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743911 S 1 0 1 HCN1 NA18507 esv1304648 5 45411548 45411610 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651613 S 2 0 1 HCN1 HuRef esv1270803 5 45412142 45412142 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850577 S 2 1 0 HCN1 HuRef nsv881204 5 45436147 45514528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514425 S 6533 0 1 HCN1 SP56004 nsv830282 5 45454017 45609272 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444446 S 95 0 1 HCN1 nsv525575 5 45515182 45948724 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701714 S 2026 1 0 HCN1 nsv830283 5 45524430 45677670 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444447 S 95 1 0 HCN1 esv1002793 5 45554082 45564425 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565503 S 3 0 1 HCN1 HuRef esv9392 5 45562720 45563411 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31833 S 1 0 1 HCN1 SJK nsv328726 5 45562729 45563228 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347304 M 24 HCN1 esv21451 5 45562768 45563727 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19374 S 451 0 2 HCN1 NA12287,NA19225 nsv329097 5 45562930 45563429 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347675 M 24 HCN1 esv2512498 5 45629092 45629199 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187255 S 1 0 1 HCN1 NA18507 esv990960 5 45641861 45641861 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570467 S 3 1 0 HCN1 HuRef esv1553862 5 45641875 45641875 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981146 S 2 1 0 HCN1 HuRef esv267702 5 45759825 45759990 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502510,essv2509809,essv2503334,essv2500138,essv2507660,essv2509953,essv2499240,essv2501596,essv2512913,essv2505329,essv2504901,essv2497885,essv2493018,essv2501326,essv2506470,essv2499007,essv2512146,essv2501913,essv2498260 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18508,NA18542,NA18573,NA18576,NA18593,NA18605,NA18608,NA18609,NA18853,NA18942,NA18945,NA18951,NA19093,NA19108,NA19114,NA19238,NA19239,NA19240 esv274136 5 45759836 45760163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584267,essv2584775,essv2583375 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259488 5 45773846 45774166 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393644,essv2393978,essv2394321 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv259890 5 45773858 45774182 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396684,essv2398931,essv2394612,essv2395884,essv2397134,essv2398342,essv2395156,essv2394831,essv2396000,essv2397019,essv2400464 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12750,NA18603,NA18870,NA18945,NA18951,NA19093,NA19108,NA19114,NA19238,NA19239,NA19240 nsv527612 5 45838908 45850032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704077 S 2026 0 1 "" esv274909 5 45867307 45876060 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585127 S 1250 0 1 "" nsv830284 5 45883732 45985067 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444448 S 95 1 0 "" nsv462138 5 45892886 46322869 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538379 S 1557 1 0 "" 1780854532_A nsv517551 5 45894599 45912435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692364,nssv663060,nssv654086,nssv666768,nssv676240,nssv680176,nssv691825,nssv653751,nssv692976 M 2026 0 9 "" dgv341n21 5 45928545 46384240 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525576,nsv526696 M 2026 2 0 "" dgv342n21 5 45938365 46111714 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525143,nsv518712 M 2026 0 2 "" nsv517108 5 45948724 46032659 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682611,nssv663959,nssv665523,nssv681344,nssv671307,nssv685358,nssv691490,nssv672874,nssv688666,nssv683598,nssv652052,nssv674881,nssv684769,nssv655795,nssv669201,nssv663500,nssv667451,nssv671242,nssv667829,nssv662591,nssv666927,nssv673541,nssv671652,nssv687969,nssv681857,nssv691033,nssv661426,nssv673691,nssv678152,nssv655568,nssv679480,nssv652673,nssv663135,nssv664322,nssv692497,nssv661884,nssv672638,nssv668219,nssv653798,nssv672059,nssv664172,nssv693581,nssv686650,nssv658723,nssv692679,nssv688270,nssv653392,nssv687415,nssv678202,nssv682913,nssv657261,nssv692335,nssv669979,nssv671593,nssv677777,nssv686608,nssv679094,nssv684035,nssv685212,nssv680359,nssv666423,nssv674034,nssv676699,nssv662455,nssv679056,nssv675180,nssv670661,nssv675032,nssv684232,nssv672816,nssv673319,nssv674482,nssv683245,nssv651750,nssv686534,nssv687034,nssv693671,nssv684283,nssv668460,nssv679120,nssv662086,nssv693966,nssv693704,nssv670255,nssv656553,nssv658216,nssv673211,nssv666219,nssv661640,nssv671722,nssv652906,nssv662058,nssv685496,nssv688231,nssv681171,nssv653063,nssv666834,nssv668517,nssv673096,nssv680863,nssv672270,nssv677102,nssv660942,nssv679325,nssv687532,nssv693072,nssv684579,nssv665826,nssv683388,nssv687504,nssv690458,nssv681978,nssv665461,nssv687455,nssv657623,nssv659758,nssv676760,nssv691126,nssv661501,nssv659840,nssv689318,nssv683060,nssv673258,nssv658029,nssv666354,nssv665908,nssv654232,nssv677159,nssv658682,nssv693389,nssv654678,nssv659618,nssv675647,nssv667159,nssv664741,nssv673910,nssv686586,nssv661747,nssv666161,nssv658460,nssv670517,nssv651791,nssv679285,nssv670175 M 2026 0 144 "" nsv522234 5 45948724 46084425 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695012 S 2026 1 0 "" esv25785 5 45985558 46007533 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18194 S 451 0 4 "" NA18502,NA18909,NA19108,NA19190 nsv821445 5 45985558 46007533 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420512 S 1 1 0 "" NA10851 nsv818350 5 45990384 46004619 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416347,nssv1415673,nssv1416346,nssv1415684,nssv1416931,nssv1418149,nssv1418150,nssv1416348,nssv1416732,nssv1416733,nssv1416731 M 112 0 11 "" NA18855,NA18856,NA18857,NA19137,NA19141,NA19142,NA19144,NA19145,NA19159,NA19160,NA19161 dgv700n27 5 45990384 46010638 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462149,nsv462146,nsv462145,nsv462148,nsv462151,nsv462141,nsv462142,nsv462144,nsv462143,nsv462140,nsv462147 M 1557 0 11 "" HGDP00455,HGDP00464,HGDP00473,HGDP00475,HGDP00637,HGDP00726,HGDP00927,HGDP00931,HGDP00936,HGDP00943,HGDP01405 nsv818351 5 45990384 46032659 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416930,nssv1416543,nssv1417865 M 112 1 2 "" NA18852,NA19138,NA19173 dgv701n27 5 46084425 46322869 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462152,nsv462153 M 1557 2 0 "" HGDP00222,HGDP00454 esv2504984 5 46116509 46119641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268793 S 1 0 1 "" NA18507 esv2511954 5 46179718 46182512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215763 S 1 0 1 "" NA18507 esv2231447 5 46179797 46181925 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877153 S 1 0 1 "" NA18507 esv3896 5 46179946 46181845 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26337 S 1 0 1 Single Asian sample YH "" YH esv9221 5 46179979 46181749 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31662 S 1 0 1 "" SJK esv29549 5 46180536 46181308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12424 S 451 0 3 "" NA19099,NA19129,NA19225 nsv469783 5 46191604 46392166 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649804 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv517480 5 46196544 46384240 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658694,nssv695385,nssv672383,nssv668021,nssv664763,nssv692618,nssv667734,nssv663405,nssv685913,nssv677661,nssv696686,nssv663657,nssv663501,nssv694560,nssv652144 M 2026 2 13 "" nsv433228 5 46197697 46264090 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463109 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 esv2284006 5 46199669 46200377 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571267 S 1 0 1 "" NA18507 esv4883 5 46199801 46200291 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27324 S 1 0 1 Single Asian sample YH "" YH esv7627 5 46199848 46200250 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30068 S 1 0 1 "" SJK esv25224 5 46201822 46221705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12416 S 451 0 2 "" NA18517,NA19147 nsv442946 5 46231640 46235192 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23031 5 46250539 46256026 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11603 S 451 0 2 "" NA18508,NA19108 esv2127526 5 46260474 46260909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497197 S 1 0 1 "" NA18507 esv1645959 5 46260652 46260727 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006923 S 2 0 1 "" HuRef nsv436474 5 46261806 46267788 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466214 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv508355 5 46283945 46335954 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618765 S 4 0 1 "" NA10860 nsv511289 5 46287063 46309601 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625110 S 1 0 1 "" 1 esv2609263 5 46305566 46312003 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239147 S 1 0 1 "" NA18507 dgv101n16 5 46305893 46312057 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435817,nsv436481 M 2 0 2 "" NA15510,NA18505 nsv513235 5 46305974 46311689 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626739 S 1 0 1 "" 1 nsv820576 5 46306205 46311844 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420515 S 1 0 1 "" NA10851 esv28968 5 46306205 46441116 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10199,esv20991,esv19788,esv16770 M 451 7 8 "" NA07045,NA11931,NA11995,NA12156,NA12414,NA12776,NA12878,NA15510,NA18502,NA18858,NA18861,NA19099,NA19147,NA19190,NA19240 nsv442947 5 46306765 46309259 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv511288 5 46307180 46361001 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625099 S 1 0 1 "" 1 esv2541114 5 46397002 46398794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354789 S 1 0 1 "" NA18507 esv4509 5 46416547 46417871 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26950 S 1 0 0 Single Asian sample YH "" YH esv997367 5 49441520 49476948 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586230 S 3 0 1 "" HuRef nsv820439 5 49441520 49588400 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420516 S 1 1 0 "" NA10851 esv28135 5 49441520 49598084 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19415,esv17894,esv15107 M 451 27 0 "" NA06985,NA11894,NA11931,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19225,NA19257 esv6051 5 49441692 49471850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28492 S 1 0 1 "" SJK esv1714999 5 49456187 49467597 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256780 S 2 0 1 "" HuRef nsv436757 5 49464901 49476646 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466218 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1116553 5 49470113 49472667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4029555 S 2 0 1 "" HuRef nsv830285 5 49481118 49563582 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444454,nssv1444453,nssv1444452,nssv1444450,nssv1444449,nssv1444455,nssv1444458,nssv1444457,nssv1444456 M 95 0 9 "" esv2620257 5 49516139 49518221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385288 S 1 0 1 "" NA18507 esv1099610 5 49583289 49583289 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138864 S 2 1 0 "" HuRef nsv516352 5 49618507 49622627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670740,nssv685914,nssv672384,nssv667735 M 2026 0 4 "" esv259969 5 49631493 49631884 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394782,essv2399038,essv2400580,essv2397574,essv2400274,essv2399611,essv2394728,essv2395597,essv2396579,essv2394985,essv2397911,essv2398223,essv2398308,essv2399309,essv2399535,essv2396402,essv2398018,essv2398690 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA12043,NA12044,NA12154,NA12761,NA18498,NA18501,NA18507,NA18511,NA18907,NA18909,NA19093,NA19102,NA19137,NA19138,NA19147,NA19190 nsv523212 5 49633254 50093800 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698933 S 2026 1 0 EMB,PARP8 nsv509968 5 49651505 49657505 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622086 S 4 0 1 "" NA10860 nsv4818 5 49683746 49697254 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8102 S 9 0 1 "" NA12156 nsv4819 5 49722120 49756193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv468 S 9 1 0 EMB NA19240 dgv1798e1 5 49784109 50093939 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1903,essv17756,esv331 M 271 0 0 PARP8 NA10831,NA18976 esv2276711 5 49871617 49871959 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853412 S 1 0 1 "" NA18507 nsv327840 5 49871686 49871755 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346418 M 24 "" esv1148944 5 49871698 49871793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681655 S 2 0 1 "" HuRef nsv507251 5 49910516 49916516 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621789 S 4 1 0 "" NA10860 nsv10697 5 49921162 49922832 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13375 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18980 esv21955 5 49921606 50025172 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16870,esv14399 M 451 5 0 PARP8 NA11894,NA12006,NA12878,NA15510,NA18505 esv1724808 5 49976771 49976983 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248877 S 2 0 1 "" HuRef esv1292680 5 49977297 49977297 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969579 S 2 1 0 "" HuRef nsv818352 5 49993978 50053481 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416351,nssv1416349 M 112 0 2 PARP8 NA18855,NA18857 nsv521214 5 50023777 50073138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694261,nssv685256,nssv687456 M 2026 0 3 PARP8 dgv702n27 5 50023777 50093800 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462162,nsv462160 M 1557 0 2 PARP8 HGDP00771,NINDS_142 nsv819124 5 50024969 50029478 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419642 S 2 0 1 PARP8 AK1 nsv462163 5 50025458 50124074 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538398 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARP8 HGDP00664 nsv462164 5 50053481 50098792 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538399 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARP8 HGDP00210 nsv507252 5 50131512 50137512 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617672 S 4 1 0 PARP8 CHM nsv830286 5 50201562 50410357 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444459,nssv1444460 M 95 2 0 "" nsv511286 5 50267305 50289957 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625077 S 1 0 1 "" 1 nsv436476 5 50269641 50275492 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466219 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2530506 5 50269776 50276054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320572 S 1 0 1 "" NA18507 esv2092918 5 50269975 50275432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808223 S 1 0 1 "" NA18507 nsv513236 5 50270041 50275453 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626740 S 1 0 1 "" 1 esv23006 5 50270083 50274854 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10956 S 451 0 9 "" NA11931,NA11995,NA12006,NA12044,NA12776,NA18505,NA18523,NA18858,NA19114 nsv4820 5 50362789 50391645 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4833 S 9 1 0 "" NA19129 nsv830287 5 50415816 50545431 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444461 S 95 1 0 "" nsv522817 5 50449460 50451556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698465 S 2026 0 1 "" nsv830288 5 50633979 50790998 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444463 S 95 1 0 ISL1 esv273254 5 50731668 50731786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579026 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269950 5 50731670 50731887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510183,essv2511163,essv2495254,essv2495884,essv2503414,essv2502545,essv2505010,essv2512633,essv2494184,essv2496221,essv2494731,essv2506177,essv2497335,essv2494544,essv2507564,essv2505891,essv2494003,essv2513475,essv2509235,essv2501238,essv2504603,essv2499001,essv2497561,essv2493904,essv2501914,essv2495807 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10851,NA11931,NA11992,NA12489,NA12716,NA12750,NA12828,NA18489,NA18502,NA18511,NA18519,NA18523,NA18545,NA18550,NA18638,NA18861,NA18871,NA18907,NA18909,NA19093,NA19099,NA19114,NA19147,NA19210,NA19239 nsv880728 5 50788219 50887332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546124,nssv1572922 M 6533 0 2 "" IS33196,MS17114 nsv881570 5 50806871 50956521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579285 S 6533 0 1 "" IS35083 esv2499791 5 50820984 50821995 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335899 S 1 1 0 "" NA18507 esv271533 5 50821409 50821740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575926,essv2546340,essv2521435,essv2525950,essv2542529,essv2544084,essv2570883,essv2577589,essv2521497,essv2576558,essv2550706,essv2550379,essv2535035,essv2544463,essv2547150,essv2529105,essv2564391,essv2553554,essv2559611,essv2565370,essv2519955,essv2561891,essv2537383,essv2528522,essv2546990,essv2540001,essv2520888,essv2551688,essv2532436,essv2562703,essv2578800,essv2561450,essv2544986,essv2524392,essv2519742,essv2529038,essv2551020,essv2543488,essv2556184,essv2557657,essv2531564,essv2573675,essv2575390,essv2575117,essv2538831,essv2560411,essv2549675,essv2545731,essv2574539,essv2551451,essv2538029,essv2554592,essv2547709 M 157 53 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA11830,NA11881,NA11894,NA11918,NA11919,NA11992,NA11993,NA12043,NA12144,NA12154,NA12155,NA12234,NA12249,NA12414,NA12717,NA12749,NA12751,NA12763,NA12776,NA12812,NA12815,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18504,NA18505,NA18507,NA18510,NA18523,NA18526,NA18555,NA18566,NA18579,NA18858,NA18870,NA18871,NA18953,NA18961,NA18964,NA19099,NA19102,NA19108,NA19190,NA19225,NA19239,NA19240,NA19257 esv274439 5 50821410 50821739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582119,essv2582429,essv2582918,essv2584437,essv2583682 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 dgv6048n71 5 50827341 50919978 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880885,nsv880280 M 6533 0 2 "" MS15704,MS24073 nsv4822 5 50929749 50932731 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10449 S 9 1 0 "" NA18956 nsv830289 5 50944804 51127028 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444464 S 95 0 1 "" nsv4823 5 50951756 50981788 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5995 S 9 0 1 "" NA12156 esv274241 5 51026143 51026647 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578979,essv2579482 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv274670 5 51026336 51026421 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581558 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv270877 5 51061194 51061458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515080 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv830290 5 51122706 51295171 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444465 S 95 1 0 "" nsv328490 5 51146284 51146284 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347068 M 24 "" nsv462165 5 51200604 51234829 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538400 S 1557 0 1 "" 1780854341_A dgv6049n71 5 51209061 51520254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880644,nsv881468,nsv881272 M 6533 0 3 "" IS32150,IS35911,IS37065 nsv830291 5 51224825 51258519 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444467,nssv1444466,nssv1444469,nssv1444468,nssv1444472,nssv1444471,nssv1444470 M 95 0 7 "" esv991506 5 51256531 51259952 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565220 S 3 1 0 "" HuRef esv2513683 5 51256671 51259450 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278894 S 1 0 1 "" NA18507 dgv6050n71 5 51293093 51461268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880565,nsv881582,nsv880803 M 6533 0 4 "" IS31145,IS31369,IS38463,MS13426 dgv703n27 5 51313286 51424645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462166,nsv462167 M 1557 0 2 "" 1780854449_A,NINDS_94 nsv462169 5 51313286 51463486 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538403 S 1557 0 1 "" 1782681169_A esv2230680 5 51315991 51316457 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972856 S 1 0 1 "" NA18507 esv2518977 5 51343564 51345349 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170012 S 1 0 1 "" NA18507 nsv880493 5 51348639 51564313 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517740 S 6533 0 1 "" SP57367 dgv6051n71 5 51354667 51468426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881347,nsv881130,nsv880688 M 6533 0 3 "" IS31330,IS32615,MS12827 nsv462171 5 51368887 51453099 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538404 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00925 nsv881027 5 51376628 51520254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534120 S 6533 0 1 "" MS11467 esv1087657 5 51383277 51383277 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286924 S 2 1 0 "" HuRef esv1727999 5 51383281 51383281 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925080 S 2 1 0 "" HuRef dgv704n27 5 51403211 51468426 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462186,nsv462181,nsv462185 M 1557 0 3 "" HGDP00210,HGDP00454,NINDS_178 nsv4824 5 51429952 51463544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2695 S 9 1 0 "" NA18555 nsv881691 5 51437337 51483799 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559432 S 6533 1 0 "" MS23973 esv1002654 5 51437580 51437677 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564065 S 3 1 0 "" HuRef esv1289056 5 51437687 51437687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132098 S 2 1 0 "" HuRef esv269733 5 51454244 51454531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520697,essv2576158,essv2539076,essv2542610,essv2560693,essv2551577 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12716,NA12814,NA18519,NA18550,NA19116,NA19257 nsv830293 5 51454841 51628988 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444474 S 95 0 1 "" nsv441953 5 51465182 51467440 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv268351 5 51468050 51468423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515732,essv2517737,essv2513611 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12815,NA12878 esv274597 5 51468050 51468423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581316,essv2581113 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv823068 5 51502480 51507110 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429794,nssv1431863 M 31 0 2 "" AK14,NA18592 esv275225 5 51519671 51525367 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585701 S 1250 0 1 "" nsv328050 5 51557052 51557107 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346628 M 24 "" nsv830294 5 51560560 51727356 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444475 S 95 1 0 "" esv21789 5 51613204 51615294 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17977 S 451 0 2 "" NA18861,NA19108 nsv4825 5 51620714 51653014 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10451 S 9 1 0 "" NA18956 esv2752072 5 51684979 52008034 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985191,essv6985190,essv6988902,essv6987187,essv6987186 M 771 1 0 "" SPC_121 nsv4826 5 51766334 51799549 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2520 S 9 1 0 "" NA18555 nsv462187 5 51794561 52369177 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538410 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITGA1,ITGA2,PELO HGDP00865 nsv471013 5 51814954 52374871 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545117 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITGA1,ITGA2,PELO HGDP00865 nsv509065 5 51857473 51874419 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623445 S 4 1 0 "" NA18994 esv990341 5 51862119 51864832 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564106 S 3 1 0 "" HuRef esv1067884 5 51862683 51862683 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912084 S 2 1 0 "" HuRef esv1166641 5 51872084 51872150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872925 S 2 0 1 "" HuRef nsv437953 5 51896668 51910461 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468703,nssv468704 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18503,NA18504 nsv881236 5 51897194 51921796 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572235 S 6533 1 0 "" IS32892 nsv4827 5 52014102 52041523 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4835 S 9 1 0 "" NA19129 nsv329236 5 52094679 52096083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347814 M 24 "" nsv830295 5 52120289 52293453 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444476 S 95 1 0 ITGA1,PELO esv2475081 5 52241288 52245067 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294639 S 1 0 1 ITGA1 NA18507 esv1295358 5 52244150 52244204 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960613 S 2 0 1 ITGA1 HuRef nsv830296 5 52245285 52446010 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444477 S 95 1 0 ITGA1,ITGA2,LOC257396,MOCS2 esv2590093 5 52267102 52268780 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184417 S 1 0 1 ITGA1 NA18507 esv2399032 5 52267350 52268074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673833 S 1 0 1 ITGA1 NA18507 esv3407 5 52267496 52267924 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25848 S 1 0 1 Single Asian sample YH ITGA1 YH dgv197n6 5 52267529 52267878 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv330015,nsv330021 M 24 ITGA1 esv1002775 5 52267538 52267870 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576890 S 3 0 1 ITGA1 HuRef esv8218 5 52267544 52267866 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30659 S 1 0 1 ITGA1 SJK esv1167986 5 52267545 52267878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666009 S 2 0 1 ITGA1 HuRef esv994978 5 52308826 52310229 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564000 S 3 1 0 "" HuRef nsv880425 5 52327036 52381625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517741 S 6533 0 1 ITGA2 SP57367 nsv881652 5 52359325 52421069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503649 S 6533 0 1 ITGA2 SP52093 nsv880389 5 52369177 52410956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517407 S 6533 0 1 ITGA2 SP57270 nsv881217 5 52370531 52377269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504686 S 6533 0 1 ITGA2 SP52708 dgv6052n71 5 52370531 52398522 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881071,nsv880600 M 6533 0 2 ITGA2 SP50649,SP52708 dgv6053n71 5 52374871 52377500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880453,nsv880366 M 6533 0 3 ITGA2 SP50144,SP50872,SP56047 nsv880531 5 52374871 52379113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515399,nssv1502900 M 6533 0 2 ITGA2 SP51449,SP56185 dgv6054n71 5 52374871 52381625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881359,nsv881477 M 6533 0 2 ITGA2 SP54356,SP56307 nsv881388 5 52374991 52411293 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505278 S 6533 1 0 ITGA2 SP53347 nsv881148 5 52376821 52382284 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503549 S 6533 1 0 ITGA2 SP52077 nsv881599 5 52377116 52380367 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501073 S 6533 1 0 ITGA2 SP50908 dgv6055n71 5 52383449 52398522 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880861,nsv880945,nsv880766 M 6533 0 3 ITGA2 SP50120,SP50829,SP55996 dgv6056n71 5 52385418 52389860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880332,nsv880951,nsv881578,nsv881331,nsv880772 M 6533 0 9 ITGA2 SP50087,SP51226,SP54355,SP54356,SP54635,SP55539,SP55694,SP55847,SP57329 dgv6057n71 5 52386278 52395691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881047,nsv881253 M 6533 0 2 ITGA2 SP51145,SP56307 dgv6058n71 5 52386278 52411684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880601,nsv881626 M 6533 0 2 ITGA2 SP50896,SP57367 dgv6059n71 5 52387194 52390367 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880343,nsv881433 M 6533 0 2 ITGA2 SP51411,SP56185 nsv881522 5 52393673 52406278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512796 S 6533 0 1 ITGA2 SP55630 nsv880866 5 52394019 52414052 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503550 S 6533 1 0 ITGA2 SP52077 nsv880427 5 52399718 52405931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499779 S 6533 0 1 ITGA2 SP50073 dgv6060n71 5 52402041 52410956 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881336,nsv881091 M 6533 0 2 ITGA2 SP51493,SP57266 nsv881684 5 52402662 52412673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502146 S 6533 1 0 ITGA2 SP50908 dgv6061n71 5 52403713 52406278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881520,nsv881048 M 6533 0 2 ITGA2 SP54617,SP56301 nsv881446 5 52404229 52410956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512122 S 6533 1 0 ITGA2 SP55287 nsv880598 5 52415034 52418661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504930 S 6533 1 0 ITGA2 SP52868 nsv880346 5 52416973 52421069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502766 S 6533 0 1 ITGA2 SP51411 nsv442948 5 52440276 52445196 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC257396,MOCS2 nsv880957 5 52454339 52478988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538085 S 6533 0 1 "" MS13480 esv2444178 5 52494204 52495822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236439 S 1 0 1 "" NA18507 esv1932351 5 52494579 52495625 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838937 S 1 0 1 "" NA18507 esv23266 5 52494608 52495458 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17764 S 451 1 1 "" NA12287,NA18517 nsv820944 5 52494608 52495552 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420517 S 1 0 1 "" NA10851 nsv823069 5 52494694 52495264 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422593 S 31 1 0 "" NA18552 dgv945n67 5 52494694 52495552 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823070,nsv823072,nsv823071 M 31 23 0 "" AK10,AK12,AK14,AK18,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18999 nsv328376 5 52494710 52495428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346954 M 24 "" nsv830297 5 52528251 52743515 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444478 S 95 0 1 "" nsv515913 5 52528434 52581598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665275,nssv663680 M 2026 0 2 "" nsv522454 5 52528434 52607515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705817 S 2026 0 1 "" esv28441 5 52533049 52535930 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20413 S 451 0 1 "" NA12414 nsv880833 5 52537925 52579988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519490 S 6533 0 1 "" SP81059 nsv508356 5 52681925 52738877 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618766 S 4 0 1 "" NA10860 nsv517020 5 52706731 52713208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680604,nssv683679,nssv653628,nssv691703 M 2026 0 4 "" nsv520889 5 52706731 52719927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697672 S 2026 0 1 "" nsv328038 5 52808037 52813049 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346616 M 24 FST dgv6062n71 5 52835375 53038540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880868,nsv880689 M 6533 0 2 NDUFS4 IS35181,IS35229 dgv6063n71 5 52920857 52988805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881348,nsv880762,nsv880426,nsv881237 M 6533 0 5 NDUFS4 IS30539,IS31123,IS31359,IS35145,IS36219 nsv881604 5 52920857 53071058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584024 S 6533 0 1 NDUFS4 IS36787 esv5622 5 52923256 52929520 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28063 S 1 0 0 NDUFS4 SJK nsv4828 5 52931227 52976036 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4836 S 9 0 1 NDUFS4 NA19129 dgv6064n71 5 53001331 53038540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880806,nsv880673 M 6533 0 4 NDUFS4 IS35788,MS20146,MS20640,SP52723 dgv6065n71 5 53001331 53071058 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881028,nsv880377,nsv881152 M 6533 0 6 NDUFS4 IS30127,IS33738,IS38459,MS10441,MS21905,MS25750 nsv823073 5 53001989 53002661 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423392 S 31 1 0 NDUFS4 NA18999 nsv881185 5 53003724 53096650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601214 S 6533 0 1 NDUFS4 IS41984 nsv830298 5 53009669 53229155 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444479 S 95 1 0 ARL15,NDUFS4 esv1938616 5 53063261 53063734 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846057 S 1 0 1 "" NA18507 esv28332 5 53089532 53095516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17832 S 451 0 1 "" NA18861 esv6940 5 53158527 53160992 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29381 S 1 0 0 "" SJK nsv513237 5 53211728 53215038 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626741 S 1 0 1 "" 1 esv2607867 5 53212114 53213690 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354814 S 1 0 1 "" NA18507 esv2215097 5 53212485 53213189 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754978 S 1 0 1 "" NA18507 esv3317 5 53212595 53213296 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25758 S 1 0 1 Single Asian sample YH "" YH nsv329677 5 53212686 53212990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348255 M 24 "" esv1006361 5 53212690 53212994 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577895 S 3 0 1 "" HuRef esv1492634 5 53212698 53213003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854823 S 2 0 1 "" HuRef esv9350 5 53212702 53212987 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31791 S 1 0 1 "" SJK nsv880713 5 53233816 53941860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503158 S 6533 1 0 ARL15,HSPB3,MIR581,SNX18 SP51493 nsv830299 5 53242777 53422357 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444480 S 95 1 0 ARL15,MIR581 nsv880272 5 53249702 53313023 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582527 S 6533 1 0 ARL15,MIR581 IS35982 dgv6066n71 5 53341499 53561428 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880619,nsv881265 M 6533 2 0 ARL15 MS10115,SP55489 nsv881616 5 53341499 53675732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559227 S 6533 1 0 ARL15 MS23789 dgv6067n71 5 53341499 53859042 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880773,nsv881056,nsv881018,nsv881161,nsv881408,nsv881600,nsv880734 M 6533 9 0 ARL15,HSPB3,SNX18 IS41511,MS10636,MS11981,MS15600,MS20239,MS22499,MS22789,MS23356,SP52914 nsv328114 5 53393116 53397147 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346692 M 24 ARL15 nsv4829 5 53401848 53430999 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10452 S 9 1 0 ARL15 NA18956 esv2542415 5 53413190 53414802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217381 S 1 0 1 ARL15 NA18507 esv997418 5 53419348 53419348 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575527 S 3 1 0 ARL15 HuRef esv1766790 5 53419349 53419349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266013 S 2 1 0 ARL15 HuRef nsv329076 5 53419349 53419349 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347654 M 24 ARL15 nsv823074 5 53422432 53423987 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434414 S 31 0 1 ARL15 NA18570 esv7542 5 53422492 53424017 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29983 S 1 0 1 ARL15 SJK nsv4830 5 53456227 53477364 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8103 S 9 0 1 ARL15 NA12156 nsv524694 5 53540521 53544943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700671 S 2026 1 0 ARL15 dgv6068n71 5 53560265 53773121 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880304,nsv880904 M 6533 2 0 ARL15 MS10115,SP55489 nsv329660 5 53599491 53603492 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348238 M 24 ARL15 nsv441954 5 53725229 53729924 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv528576 5 53742153 53757455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705195 S 2026 0 1 "" nsv328514 5 53750806 53750891 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347092 M 24 "" nsv881404 5 53762849 53859042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559228 S 6533 1 0 HSPB3,SNX18 MS23789 esv1550828 5 53791289 53791377 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045541 S 2 0 1 "" HuRef nsv328649 5 53791290 53791377 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347227 M 24 "" dgv6069n71 5 53797183 53859042 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv880564,nsv881004 M 6533 2 0 SNX18 MS10115,SP55489 esv34152 5 53824229 53879092 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SNX18 esv3426 5 53825061 53825427 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25867 S 1 0 0 Single Asian sample YH "" YH esv1445534 5 53845228 53845298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987809 S 2 0 1 "" HuRef esv1253316 5 53845416 53845416 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242981 S 2 1 0 "" HuRef esv1596597 5 53845790 53845790 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177081 S 2 1 0 "" HuRef esv26784 5 53854284 53854985 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9915 S 451 0 1 SNX18 NA12489 nsv518397 5 53901364 53905333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695827 S 2026 0 1 "" nsv523332 5 53901364 53905333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699078 S 2026 1 0 "" nsv4831 5 54025275 54059413 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2696 S 9 1 0 "" NA18555 nsv526042 5 54053366 54054643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702275 S 2026 0 1 "" nsv880717 5 54061458 54142135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561735 S 6533 0 1 "" MS25205 nsv830300 5 54092057 54293101 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444481 S 95 0 1 "" esv2208322 5 54117340 54117840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794259 S 1 0 1 "" NA18507 nsv327146 5 54117516 54117664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345724 M 24 "" esv29751 5 54139514 54140493 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19821 S 451 1 0 "" NA18511 nsv830301 5 54261631 54459262 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444482,nssv1444483 M 95 2 0 CDC20B,ESM1,GZMA,GZMK esv27766 5 54283067 54283791 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16244 S 451 0 2 "" NA18916,NA19190 esv2486977 5 54324063 54324173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170501 S 1 0 1 "" NA18507 nsv4833 5 54413754 54457644 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9664 S 9 0 1 CDC20B,GZMA NA18507 esv2500618 5 54415207 54423208 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365647 S 1 0 1 "" NA18507 esv2376709 5 54416002 54422891 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539392 S 1 0 1 "" NA18507 esv2503041 5 54437040 54438477 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233249 S 1 0 1 GZMA NA18507 nsv830302 5 54439135 54590936 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444486,nssv1444485 M 95 2 0 CCNO,CDC20B,DHX29,GPX8,GZMA,IDAS,MIR449A,MIR449B,MIR449C nsv823075 5 54444979 54445775 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423393 S 31 0 1 CDC20B NA18999 nsv823077 5 54475176 54475788 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441054 S 31 0 1 CDC20B NA18969 dgv6070n71 5 54505832 55029586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881535,nsv881623 M 6533 0 2 CCNO,DHX29,IDAS,PPAP2A,RNF138P1,SKIV2L2,SLC38A9 IS33786,IS33864 nsv329701 5 54543717 54545728 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348279 M 24 "" nsv823078 5 54578375 54579553 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436608 S 31 0 1 "" NA18542 dgv6071n71 5 54612020 54771543 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881001,nsv880797 M 6533 0 2 DHX29,PPAP2A,SKIV2L2 IS36981,MS22104 nsv880340 5 54663092 54713276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540561 S 6533 0 1 SKIV2L2 MS14918 dgv6072n71 5 54663092 54753307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881378,nsv880439,nsv881469 M 6533 0 3 SKIV2L2 IS40067,MS21771,SP50144 nsv523841 5 54670983 54680516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699674 S 2026 0 1 SKIV2L2 nsv518688 5 54676253 54680516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694262 S 2026 0 1 SKIV2L2 nsv823079 5 54676698 54678624 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434415 S 31 0 1 SKIV2L2 NA18570 nsv435812 5 54700636 54703022 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466220 S 2 0 1 SKIV2L2 NA15510 esv2436029 5 54764857 54765757 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310441 S 1 1 0 PPAP2A NA18507 esv1622290 5 54765056 54765056 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768318 S 2 1 0 PPAP2A HuRef nsv881072 5 54809926 54909042 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559173 S 6533 0 1 PPAP2A,RNF138P1 MS23768 nsv830304 5 54824395 54987398 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444489,nssv1444488,nssv1444487,nssv1444490 M 95 3 1 PPAP2A,RNF138P1,SLC38A9 esv1648958 5 54844064 54844064 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3976655 S 2 1 0 PPAP2A HuRef esv1709723 5 54844066 54844136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955988 S 2 0 1 PPAP2A HuRef nsv328978 5 54844085 54844152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347556 M 24 PPAP2A nsv4834 5 54864698 54898584 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8104 S 9 1 0 PPAP2A,RNF138P1 NA12156 nsv830305 5 54875361 55075319 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444491 S 95 0 1 DDX4,SLC38A9 dgv6073n71 5 54889248 55063917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881200,nsv880894 M 6533 0 2 SLC38A9 IS36787,IS38207 esv2511334 5 54900994 54901957 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169557 S 1 1 0 "" NA18507 esv271074 5 54901523 54901857 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558142,essv2575921,essv2541012,essv2546525,essv2521033,essv2526076,essv2542484,essv2536441,essv2522983,essv2543969,essv2570988,essv2556614,essv2523308,essv2531828,essv2577251,essv2548185,essv2521503,essv2525381,essv2535245,essv2520465,essv2547263,essv2529376,essv2558557,essv2564330,essv2553617,essv2565242,essv2576239,essv2520148,essv2530874,essv2561833,essv2537588,essv2528462,essv2546638,essv2539985,essv2557543,essv2556975,essv2552503,essv2551883,essv2562753,essv2569568,essv2578638,essv2558876,essv2539174,essv2569738,essv2523843,essv2552782,essv2541327,essv2524633,essv2564845,essv2534752,essv2549385,essv2519650,essv2560087,essv2522213,essv2566263,essv2530929,essv2567698,essv2528748,essv2567448,essv2541458,essv2570036,essv2563586,essv2553116,essv2535565,essv2542115,essv2551194,essv2556173,essv2562415,essv2539394,essv2533868,essv2578481,essv2555388,essv2555559,essv2566403,essv2530158,essv2573771,essv2527572,essv2555915,essv2573604,essv2543334,essv2572023,essv2529706,essv2575455,essv2575312,essv2538702,essv2560551,essv2574623,essv2530304,essv2568481,essv2545144,essv2549619,essv2571439,essv2546104,essv2574284,essv2551344,essv2538030,essv2548872,essv2533284,essv2554549,essv2547896,essv2524814,essv2563450 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12004,NA12006,NA12043,NA12045,NA12144,NA12156,NA12249,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18510,NA18516,NA18519,NA18520,NA18537,NA18542,NA18545,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18856,NA18858,NA18871,NA18909,NA18912,NA18916,NA18940,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18964,NA18965,NA18973,NA19093,NA19099,NA19102,NA19108,NA19116,NA19138,NA19141,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv272170 5 54901524 54901858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584109,essv2583566 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv6074n71 5 54981752 55063917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv880976,nsv881698,nsv880301,nsv881266 M 6533 0 5 SLC38A9 IS33475,IS35911,IS40368,IS40819,IS41634 nsv881699 5 54981752 55196859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565940 S 6533 0 1 DDX4,IL31RA,SLC38A9 IS30539 nsv507253 5 54989033 54995033 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621790,nssv620296 M 4 2 0 SLC38A9 NA10860,NA15510 nsv329478 5 54990975 54994482 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348056 M 24 SLC38A9 nsv830306 5 55004637 55178239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444492 S 95 1 0 DDX4,SLC38A9 dgv1799e1 5 55016652 55094749 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv984,essv2372 M 271 0 0 DDX4,SLC38A9 NA18995 nsv507254 5 55018837 55024837 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620297,nssv621791 M 4 2 0 SLC38A9 NA10860,NA15510 nsv525146 5 55090370 55098280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701216 S 2026 0 1 DDX4 nsv4835 5 55093605 55127883 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3348 S 9 1 0 DDX4 NA12878 nsv10698 5 55099288 55117392 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15473 S 31 1 0 Samples from several populations that are part of the HapMap project. DDX4 NA18972 nsv830307 5 55199515 55380027 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444493 S 95 1 0 IL31RA,IL6ST esv271365 5 55203374 55203728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526127,essv2552316,essv2529309,essv2559763,essv2565513,essv2530649,essv2528566,essv2557136,essv2552359,essv2551912,essv2569273,essv2558904,essv2527390,essv2561515,essv2542167,essv2551130,essv2562442,essv2575589,essv2530336,essv2568520,essv2545189,essv2571514,essv2574376,essv2551325,essv2533392 M 157 25 0 Samples from several populations that are part of the HapMap project. IL31RA NA07051,NA11918,NA12489,NA12749,NA12776,NA12812,NA12873,NA12891,NA18501,NA18502,NA18504,NA18508,NA18516,NA18522,NA18523,NA18856,NA18858,NA18909,NA19099,NA19141,NA19147,NA19172,NA19238,NA19240,NA19257 esv273498 5 55203374 55203728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582142,essv2582504,essv2583063,essv2584134,essv2584837,essv2583875 M 7 6 0 Samples from several populations that are part of the HapMap project. IL31RA NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv524739 5 55216666 55238308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700730 S 2026 0 1 IL31RA nsv327714 5 55217877 55223346 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346292 M 24 IL31RA esv270483 5 55323146 55323299 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495351,essv2508585,essv2504039,essv2493719,essv2509063,essv2505764,essv2504680,essv2497615,essv2512090 M 157 9 0 Samples from several populations that are part of the HapMap project. IL6ST NA12287,NA12717,NA18505,NA18517,NA18522,NA18861,NA19099,NA19147,NA19238 esv273490 5 55323153 55323387 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579219 S 7 1 0 Samples from several populations that are part of the HapMap project. IL6ST NA19239 esv270770 5 55347994 55348079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513821 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv823080 5 55382617 55383196 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426651 S 31 0 1 "" AK6 nsv507255 5 55414882 55420882 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620298,nssv617673,nssv621792 M 4 3 0 "" CHM,NA10860,NA15510 nsv329245 5 55441835 55444088 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347823 M 24 ANKRD55 nsv519960 5 55453893 55458438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697149 S 2026 0 1 ANKRD55 esv23752 5 55454278 55455878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19194 S 451 0 2 ANKRD55 NA18517,NA18861 esv993277 5 55460610 55466501 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565606 S 3 0 1 ANKRD55 HuRef nsv513238 5 55464389 55466251 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626742 S 1 0 1 ANKRD55 1 esv1152739 5 55465008 55466148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890693 S 2 0 1 ANKRD55 HuRef esv29252 5 55465067 55466202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15747 S 451 0 4 ANKRD55 NA12004,NA12239,NA12749,NA12776 nsv881700 5 55474608 55511516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555899 S 6533 0 1 ANKRD55 MS21706 esv268402 5 55483728 55483813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517116,essv2515649,essv2517550,essv2518317 M 157 4 0 Samples from several populations that are part of the HapMap project. ANKRD55 NA11931,NA12815,NA12878,NA19240 esv273609 5 55483728 55483813 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581396,essv2581202 M 7 2 0 Samples from several populations that are part of the HapMap project. ANKRD55 NA12878,NA19240 esv1539040 5 55483767 55483767 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050386 S 2 1 0 ANKRD55 HuRef esv269957 5 55547579 55547957 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500322,essv2496347,essv2501118,essv2494727,essv2509114,essv2497756,essv2508458,essv2501062,essv2498432,essv2507416,essv2495619,essv2493078,essv2500503,essv2501260,essv2509528,essv2498659,essv2497472,essv2501924,essv2498024 M 157 19 0 Samples from several populations that are part of the HapMap project. ANKRD55 NA12891,NA18510,NA18516,NA18519,NA18522,NA18555,NA18582,NA18856,NA18858,NA18912,NA18916,NA18951,NA18956,NA19093,NA19129,NA19138,NA19147,NA19239,NA19240 esv274436 5 55547596 55547843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582581,essv2584212,essv2583581 M 7 3 0 Samples from several populations that are part of the HapMap project. ANKRD55 NA12891,NA19238,NA19240 esv274955 5 55559566 55559865 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585729 S 1250 0 1 ANKRD55 dgv1800e1 5 55688830 55707856 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25078,esv1019,essv24550 M 271 0 0 "" NA11831,NA12892 nsv10699 5 55700864 55706454 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14901,nssv13594 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA18860 esv267705 5 55725207 55725534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516755,essv2514022,essv2516574,essv2518149,essv2515925,essv2514262,essv2517793,essv2518961,essv2514012,essv2518255,essv2519390 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA12043,NA12814,NA12872,NA12873,NA12874,NA12878,NA19141,NA19143,NA19240 esv273467 5 55725207 55725534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581106 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1696888 5 55725253 55725253 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895434 S 2 1 0 "" HuRef nsv881701 5 55762933 55783025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534939 S 6533 0 1 "" MS11836 esv990081 5 55767050 55770837 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564579 S 3 0 1 "" HuRef nsv4836 5 55901150 55935824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3349 S 9 1 0 "" NA12878 esv2509875 5 55910311 55911743 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241702 S 1 0 1 "" NA18507 esv275187 5 55933116 55933582 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585624,essv2585731 M 1250 1 1 "" nsv830308 5 55933260 56154987 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444494 S 95 1 0 MAP3K1 nsv328545 5 55948664 55956271 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347123 M 24 "" esv2353780 5 55956087 55956524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968097 S 1 0 1 "" NA18507 esv274521 5 55963706 55964032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582458,essv2584449,essv2583795 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv270674 5 55963706 55964034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546613,essv2521076,essv2526240,essv2542277,essv2522868,essv2543961,essv2556664,essv2568398,essv2545446,essv2523404,essv2531771,essv2570724,essv2548411,essv2535139,essv2553914,essv2552236,essv2520668,essv2547162,essv2529251,essv2564628,essv2577835,essv2553603,essv2559584,essv2520093,essv2563966,essv2537716,essv2528445,essv2546928,essv2541156,essv2542862,essv2564918,essv2539883,essv2559896,essv2567602,essv2535493,essv2578127,essv2566430,essv2529896,essv2556078,essv2538620,essv2537849,essv2548854,essv2533376,essv2554614,essv2557983 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA10851,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12815,NA12828,NA12878,NA12891,NA12892,NA18545,NA18550,NA18558,NA18563,NA18570,NA18582,NA18608,NA18940,NA18948,NA18949,NA18956,NA19108 esv270792 5 56145449 56145555 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556581,essv2547504,essv2558492,essv2577674,essv2562107,essv2569238,essv2558849,essv2544772,essv2565995,essv2528026,essv2522633,essv2530300,essv2533037 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11994,NA12717,NA12750,NA12761,NA12874,NA18508,NA18516,NA18526,NA18572,NA18907,NA18960,NA19141 esv23998 5 56146493 56148211 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15286 S 451 0 2 MAP3K1 NA12414,NA18511 esv2375620 5 56166766 56167130 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863462 S 1 0 1 MAP3K1 NA18507 nsv329292 5 56166869 56166934 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347870 M 24 MAP3K1 esv1000409 5 56166873 56166938 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568192 S 3 0 1 MAP3K1 HuRef esv1751401 5 56166982 56167048 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611113 S 2 0 1 MAP3K1 HuRef nsv329673 5 56166983 56167048 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348251 M 24 MAP3K1 esv23156 5 56282849 56283958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12671 S 451 0 1 MIER3 NA12414 nsv527916 5 56338340 56340969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704422 S 2026 0 1 "" esv275385 5 56377253 56383379 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585389 S 1250 0 1 "" nsv523034 5 56382095 56385031 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698717 S 2026 0 1 "" nsv528610 5 56435760 56436147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705236 S 2026 0 1 "" esv269098 5 56477765 56477850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514050,essv2515601,essv2516080 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12815,NA12873 nsv4837 5 56519351 56573043 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8105,nssv3350 M 9 2 0 GPBP1 NA12156,NA12878 esv2481248 5 56581056 56581933 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265483 S 1 1 0 GPBP1 NA18507 nsv4838 5 56705851 56740453 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3351 S 9 1 0 "" NA12878 esv994015 5 56723787 56734544 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565642 S 3 0 1 "" HuRef nsv4839 5 56831679 56876328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8106 S 9 0 1 "" NA12156 esv268545 5 56866458 56866786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540047,essv2556877,essv2552674,essv2562705,essv2578817,essv2537084,essv2538988,essv2569653,essv2541139,essv2542639,essv2560009,essv2532538,essv2566750,essv2542075,essv2551023,essv2543491,essv2528165,essv2562257,essv2533889,essv2572929,essv2533506,essv2566635,essv2530075,essv2573545,essv2529635,essv2575774,essv2575193,essv2526418,essv2574667,essv2530370,essv2572839,essv2549890,essv2551250,essv2536079,essv2533292 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA18489,NA18501,NA18502,NA18507,NA18510,NA18517,NA18519,NA18520,NA18545,NA18550,NA18570,NA18576,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18916,NA18942,NA18944,NA18948,NA18949,NA18964,NA19093,NA19099,NA19102,NA19114,NA19138,NA19141,NA19143,NA19225,NA19257 nsv830309 5 56873347 57014040 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444496 S 95 1 0 "" esv987683 5 56954518 56963319 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565240 S 3 0 1 "" HuRef nsv525330 5 56967430 57356100 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701441 S 2026 1 0 "" nsv830310 5 57025103 57211763 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444497 S 95 1 0 "" nsv10700 5 57313240 57349467 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12802 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 esv2638587 5 57314674 57315293 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208772 S 1 1 0 "" NA18507 nsv508357 5 57340229 57395944 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617510,nssv619955,nssv622521 M 4 0 3 "" CHM,NA15510,NA18994 nsv4840 5 57346759 57388503 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11105,nssv9665,nssv469,nssv3352,nssv10453,nssv9410,nssv2521,nssv5996,nssv4837 M 9 0 9 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv272 5 57356695 57375303 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv272 S 1 0 1 "" NA15510 esv2582711 5 57357375 57369770 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205640 S 1 0 1 "" NA18507 esv2449363 5 57358501 57370097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330539 S 1 0 1 "" NA18507 dgv102n16 5 57358620 57369748 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435824,nsv436489 M 2 0 2 "" NA15510,NA18505 esv990080 5 57359054 57369639 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564658 S 3 0 1 "" HuRef esv2281094 5 57359059 57369721 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854513 S 1 0 1 "" NA18507 nsv513239 5 57359129 57369829 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626744 S 1 0 1 "" 1 esv4050 5 57359193 57369600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26491 S 1 0 1 Single Asian sample YH "" YH dgv946n67 5 57359198 57369499 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823082,nsv823081 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820829 5 57359198 57369499 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420518 S 1 0 1 "" NA10851 nsv10701 5 57359213 57371928 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14131,nssv14502,nssv12832,nssv13112,nssv12966 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA18502,NA18942,NA19240 esv6892 5 57359220 57369526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29333 S 1 0 1 "" SJK dgv48n47 5 57359233 57369538 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499423,nsv499085 M 9 0 2 "" esv27697 5 57359283 57369499 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14299 S 451 14 0 "" NA06985,NA07045,NA11931,NA12004,NA12287,NA12414,NA12749,NA18502,NA18505,NA18508,NA18523,NA18909,NA19108,NA19240 nsv511309 5 57359369 57370582 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625332 S 1 1 0 "" 1 nsv514305 5 57361764 57369084 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627750 S 1414 0 1 "" esv2422097 5 57361784 57369290 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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M 1184 0 1158 "" 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NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20505,NA20508,NA20509,NA20510,NA20512,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442949 5 57361784 57369290 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv21811 5 57427778 57428348 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12085 S 451 0 1 "" NA19114 esv269447 5 57428182 57428513 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575945,essv2531767,essv2577335,essv2550611,essv2550510,essv2529287,essv2520262,essv2530770,essv2562139,essv2569611,essv2523571,essv2552799,essv2540545,essv2534715,essv2561249,essv2566301,essv2531042,essv2532481,essv2567611,essv2563866,essv2553487,essv2558972,essv2527824,essv2530118,essv2522497,essv2531505,essv2576918,essv2525598,essv2526624,essv2537791 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11830,NA12006,NA12043,NA12155,NA12234,NA12749,NA12815,NA12873,NA12874,NA18508,NA18537,NA18542,NA18552,NA18561,NA18562,NA18572,NA18573,NA18576,NA18582,NA18603,NA18605,NA18638,NA18907,NA18949,NA18960,NA18961,NA18970,NA18980,NA19114 nsv4841 5 57453814 57482687 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4838 S 9 1 0 "" NA19129 nsv4842 5 57689014 57730607 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2523,nssv3353,nssv9882,nssv10454,nssv470,nssv5997,nssv4839 M 9 0 7 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508358 5 57708987 57745441 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619956,nssv618767,nssv622522,nssv617511 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv989305 5 57713765 57731012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565745 S 3 0 1 "" HuRef dgv144e180 5 57714759 57722926 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004243,esv1004819 M 3 0 1 "" HuRef esv2518600 5 57714857 57723015 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379769 S 1 0 1 "" NA18507 esv2473328 5 57715099 57722422 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228118 S 1 0 1 "" NA18507 esv2393790 5 57715562 57722049 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784354 S 1 0 1 "" NA18507 dgv103n16 5 57715683 57722976 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436454,nsv435821 M 2 0 2 "" NA15510,NA18505 esv2948 5 57715699 57721922 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25389 S 1 0 1 Single Asian sample YH "" YH nsv513240 5 57715723 57721925 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626745 S 1 0 1 "" 1 nsv499762 5 57715749 57721868 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585953 S 9 0 1 "" esv6095 5 57715756 57721850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28536 S 1 0 1 "" SJK esv1301506 5 57715758 57721867 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773463 S 2 0 1 "" HuRef nsv328972 5 57715759 57721867 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347550 M 24 "" esv272452 5 57751939 57752289 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580771 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267459 5 57751951 57752287 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557993,essv2556530,essv2568363,essv2525230,essv2552305,essv2558516,essv2520082,essv2555093,essv2537350,essv2546828,essv2551720,essv2532218,essv2523675,essv2542629,essv2524464,essv2564831,essv2549334,essv2559825,essv2541459,essv2578191,essv2557611,essv2534483,essv2560498,essv2551231,essv2548886,essv2524880 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10851,NA11994,NA11995,NA12156,NA12489,NA12750,NA12815,NA12872,NA12878,NA12892,NA18504,NA18505,NA18537,NA18550,NA18555,NA18558,NA18564,NA18570,NA18592,NA18940,NA18953,NA18959,NA19190,NA19257 nsv4844 5 57807678 57840743 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8108 S 9 1 0 GAPT NA12156 esv28490 5 57812526 57814541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15185,esv11510 M 451 0 5 "" NA07045,NA11894,NA12044,NA12287,NA18916 nsv820995 5 57812526 57814654 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420519 S 1 1 0 "" NA10851 nsv513241 5 57812726 57815146 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626746 S 1 0 1 "" 1 esv2422993 5 57812833 57814558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318384 S 1 0 1 "" NA18507 dgv30e194 5 57813114 57814071 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2083262,esv2233350 M 1 0 1 "" NA18507 esv1086361 5 57928714 57928714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247825 S 2 1 0 RAB3C HuRef esv1066632 5 57928847 57928847 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031370 S 2 1 0 RAB3C HuRef esv1096603 5 57928917 57928917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739944 S 2 1 0 RAB3C HuRef esv1145647 5 57929376 57929376 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938101 S 2 1 0 RAB3C HuRef nsv830311 5 57948303 58141393 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444498 S 95 1 0 RAB3C esv2588706 5 57958227 57959786 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293174 S 1 0 1 RAB3C NA18507 esv2124830 5 57958740 57959293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697429 S 1 0 1 RAB3C NA18507 esv989220 5 57958935 57959107 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569695 S 3 0 1 RAB3C HuRef esv1163457 5 57958937 57959110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343897 S 2 0 1 RAB3C HuRef nsv4845 5 57985250 58029913 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv471 S 9 0 1 RAB3C NA19240 dgv109n17 5 57990068 57997162 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437464,nsv437465 M 60 0 2 RAB3C NA18872,NA19120 esv25926 5 57991355 57995222 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14646 S 451 0 10 RAB3C NA18502,NA18508,NA18517,NA18909,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv328987 5 57991615 57995265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347565 M 24 RAB3C nsv514306 5 57991788 57994760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627751 S 1414 0 1 RAB3C esv2422174 5 57991829 57994889 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5156860,essv5157238,essv5044479,essv5056963,essv5054199,essv5034046,essv5072453,essv5079102,essv5044101,essv5131811,essv5091618,essv5123781,essv5091556,essv5054817,essv5125355,essv5010013,essv5021238,essv5070603,essv5113412,essv5132099,essv5101927,essv5018690,essv5084636,essv5147334,essv5029562,essv5149899,essv5146697,essv5002090,essv5074054,essv5117223,essv5004759,essv5014825,essv5037434,essv5056893,essv5142859,essv5091737,essv5119318,essv5141871,essv5125014,essv5006323,essv5086363,essv5117769,essv5090181,essv5150999,essv5031825,essv5063514,essv5131576,essv5078621,essv5009804,essv5156026,essv5097299,essv5005486,essv5125679,essv5123694,essv5127693,essv5042540,essv5156872,essv5151050,essv5120026,essv5137684,essv5108923,essv5105334,essv5008090,essv5030603,essv5115714,essv5061042,essv5120068,essv5154027,essv5009071,essv5028479,essv5043158,essv5074896,essv5029760,essv5070021,essv5022990,essv5003939,essv5117089,essv5068090,essv5063993,essv5025931,essv5054253,essv5068173,essv5051807,essv5010656,essv5077349,essv5006786,essv5040016,essv5031983,essv5017780,essv5116911,essv5140183,essv5063893,essv5016959,essv5004461,essv5057307,essv5043111,essv5084450,essv5057354,essv5057557,essv5028004,essv5055442,essv5009378,essv5113009,essv5115297,essv5060326,essv5016575,essv5140585,essv5050568,essv5091965,essv5012549,essv5136671,essv5008318,essv5088680,essv5011882,essv5100823,essv5146317,essv5126449,essv5104892,essv5090755,essv5079467,essv5039320,essv5099757,essv5129219,essv5031508,essv5099233,essv5118909,essv5018225,essv5134648,essv5029743,essv5103306,essv5031140,essv5078701,essv5079282,essv5133213,essv5139650,essv5112505,essv5073816,essv5139782,essv5153316,essv5104361 M 1184 0 140 RAB3C NA18500,NA18508,NA18515,NA18517,NA18518,NA18519,NA18870,NA18872,NA18909,NA18911,NA18912,NA18913,NA18914,NA18923,NA18924,NA18925,NA19028,NA19046,NA19095,NA19096,NA19098,NA19114,NA19115,NA19119,NA19120,NA19131,NA19137,NA19139,NA19147,NA19148,NA19149,NA19151,NA19190,NA19191,NA19193,NA19194,NA19200,NA19201,NA19202,NA19213,NA19214,NA19215,NA19223,NA19224,NA19225,NA19238,NA19240,NA19257,NA19307,NA19311,NA19314,NA19318,NA19327,NA19328,NA19359,NA19374,NA19377,NA19380,NA19381,NA19382,NA19383,NA19390,NA19394,NA19397,NA19428,NA19430,NA19431,NA19436,NA19438,NA19451,NA19452,NA19455,NA19456,NA19457,NA19466,NA19471,NA19473,NA19704,NA19705,NA19746,NA19748,NA19909,NA19916,NA19919,NA19985,NA20281,NA20291,NA20292,NA20297,NA20334,NA20335,NA20341,NA20360,NA20363,NA20364,NA21307,NA21308,NA21316,NA21317,NA21318,NA21339,NA21359,NA21361,NA21364,NA21370,NA21371,NA21384,NA21388,NA21403,NA21415,NA21418,NA21424,NA21425,NA21438,NA21439,NA21440,NA21453,NA21455,NA21475,NA21477,NA21488,NA21517,NA21520,NA21528,NA21529,NA21587,NA21596,NA21599,NA21613,NA21619,NA21620,NA21632,NA21647,NA21678,NA21685,NA21693,NA21719,NA21723,NA21739,NA21776 nsv442950 5 57992600 57994889 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RAB3C esv27205 5 58115165 58117262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9897,esv11150 M 451 0 7 RAB3C NA11894,NA12006,NA18502,NA18508,NA19108,NA19147,NA19240 nsv830312 5 58227336 58417983 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444499 S 95 1 0 PDE4D esv270789 5 58291526 58291611 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516817,essv2516957,essv2516019,essv2514429 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12873,NA12874 esv1516405 5 58291565 58291565 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087831 S 2 1 0 "" HuRef nsv830313 5 58309481 58456855 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444500 S 95 0 1 PDE4D esv1000440 5 58309790 58309923 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570589 S 3 0 1 PDE4D HuRef esv1454268 5 58309799 58309933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938628 S 2 0 1 PDE4D HuRef esv2309169 5 58312875 58313293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974658 S 1 0 1 PDE4D NA18507 esv1621306 5 58313087 58313139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747048 S 2 0 1 PDE4D HuRef nsv526881 5 58338737 58340256 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703239 S 2026 1 0 PDE4D dgv343n21 5 58432005 58434958 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528391,nsv522742 M 2026 0 2 PDE4D nsv881702 5 58468170 58510611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554416 S 6533 0 1 PDE4D MS20797 nsv4846 5 58489281 58521776 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4840 S 9 1 0 PDE4D NA19129 nsv327785 5 58503558 58503667 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346363 M 24 PDE4D nsv328137 5 58503619 58503728 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346715 M 24 PDE4D esv268695 5 58552364 58552449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515501,essv2515769,essv2518411 M 157 3 0 Samples from several populations that are part of the HapMap project. PDE4D NA12249,NA12815,NA19240 esv274312 5 58552364 58552449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581614 S 7 1 0 Samples from several populations that are part of the HapMap project. PDE4D NA12878 nsv881703 5 58553675 58576604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522216 S 6533 0 1 PDE4D SP52830 nsv520721 5 58556492 58594145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697574 S 2026 0 1 PDE4D nsv881704 5 58689140 58711295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514340 S 6533 0 1 PDE4D SP55996 nsv881705 5 58704426 58781629 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583322 S 6533 0 1 PDE4D IS36423 nsv518845 5 58711295 58711806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696298 S 2026 0 1 PDE4D nsv881706 5 58765868 58901614 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536450 S 6533 0 1 PDE4D MS12787 nsv881707 5 58777248 58819859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528381 S 6533 0 1 PDE4D SP81212 esv275451 5 58790134 58790977 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585680 S 1250 0 1 PDE4D nsv881708 5 58904808 59128955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521304 S 6533 0 1 PDE4D SP52331 nsv328623 5 58905594 58905655 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347201 M 24 PDE4D nsv462190 5 58972700 59059627 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538411 S 1557 1 0 PDE4D 1780862301_A nsv462191 5 59029054 59074367 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538412 S 1557 0 1 PDE4D 1780862596_A nsv328919 5 59093933 59093992 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347497 M 24 PDE4D nsv515987 5 59164511 59176633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693644,nssv662909,nssv665596 M 2026 0 3 PDE4D esv273089 5 59329692 59330068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580244,essv2579912 M 7 2 0 Samples from several populations that are part of the HapMap project. PDE4D NA12878,NA12892 dgv6075n71 5 59343570 59473631 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881710,nsv881709 M 6533 0 3 PDE4D IS35018,IS37467,IS40657 nsv508361 5 59372185 59401742 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619957 S 4 0 1 PDE4D NA15510 nsv462192 5 59396098 59509972 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538413 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDE4D HGDP00045 nsv830316 5 59516026 59725586 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444501 S 95 0 1 PDE4D esv21678 5 59525372 59532089 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15503 S 451 0 1 PDE4D NA12749 esv32579 5 59525425 59531934 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101493,essv93809,essv96824,essv97366,essv92621 M 51 0 5 PDE4D 21603,21634,21659,21879,22233 nsv4847 5 59559348 59605064 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5998 S 9 0 1 PDE4D NA12156 esv270152 5 59616419 59616711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556872,essv2551746,essv2537180,essv2561518,essv2532492,essv2526333,essv2524291,essv2560461 M 157 8 0 Samples from several populations that are part of the HapMap project. PDE4D NA18501,NA18504,NA18517,NA18523,NA18576,NA19114,NA19129,NA19190 esv274157 5 59655381 59655638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580567 S 7 1 0 Samples from several populations that are part of the HapMap project. PDE4D NA19238 esv268638 5 59655393 59655598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494270,essv2500971,essv2498429,essv2507254,essv2509174,essv2507342,essv2495494,essv2501524,essv2504677,essv2498791,essv2497607,essv2499764,essv2512130,essv2498054 M 157 14 0 Samples from several populations that are part of the HapMap project. PDE4D NA18502,NA18856,NA18858,NA18870,NA18909,NA18912,NA18916,NA19093,NA19099,NA19138,NA19147,NA19225,NA19238,NA19240 nsv4848 5 59698651 59733531 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv472 S 9 1 0 PDE4D NA19240 esv272601 5 59730914 59731139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581435,essv2581163 M 7 2 0 Samples from several populations that are part of the HapMap project. PDE4D NA12878,NA19240 nsv4849 5 59749852 59774745 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9666 S 9 1 0 PDE4D NA18507 dgv705n27 5 59758639 59807480 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462193,nsv462194,nsv462197,nsv462196 M 1557 4 0 PDE4D 1780854538_A,1780862101_A,NINDS_158,NINDS_55 nsv516823 5 59758639 59807480 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691170,nssv671195,nssv655674,nssv687138,nssv689431,nssv692856,nssv687383 M 2026 7 0 PDE4D nsv881711 5 59760704 59926035 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568839 S 6533 1 0 PART1,PDE4D IS31359 esv9436 5 59815608 59815697 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31877 S 1 1 0 PDE4D SJK nsv327281 5 59868007 59868267 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345859 M 24 PART1 nsv436477 5 59982138 59987837 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466225 S 2 0 1 Samples from several populations that are part of the HapMap project. DEPDC1B NA18505 esv5002 5 59983512 59985069 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27443 S 1 0 1 Single Asian sample YH DEPDC1B YH nsv328716 5 59999684 59999853 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347294 M 24 DEPDC1B nsv4850 5 60011943 60075567 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5999,nssv9667 M 9 0 2 DEPDC1B NA12156,NA18507 nsv508362 5 60026065 60086651 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622523 S 4 0 1 DEPDC1B,ELOVL7 NA18994 nsv513242 5 60036845 60039448 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626747 S 1 0 1 "" 1 esv2441489 5 60036937 60040346 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175535 S 1 0 1 "" NA18507 esv1924343 5 60037285 60039613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520705 S 1 0 1 "" NA18507 dgv947n67 5 60037314 60039604 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823086,nsv823085,nsv823083,nsv823084 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821130 5 60037314 60039604 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420520 S 1 0 1 "" NA10851 dgv145e180 5 60037336 60039426 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009755,esv1008237 M 3 1 0 "" HuRef esv27725 5 60037408 60039465 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20653 S 451 15 9 "" NA07037,NA07045,NA11894,NA12004,NA12044,NA12156,NA12239,NA12287,NA12749,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA18916,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv499714 5 60037461 60039428 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585954 S 9 0 1 "" nsv514307 5 60037536 60039064 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627752 S 1414 0 1 "" esv2752073 5 60070232 60172383 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981243,essv6981242,essv6987930,essv6987929,essv6981244 M 771 0 1 ELOVL7 BEC_371 nsv4851 5 60072921 60097162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9668 S 9 1 0 ELOVL7 NA18507 nsv4852 5 60107810 60140111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3354 S 9 1 0 ELOVL7 NA12878 dgv6076n71 5 60152370 60348772 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881714,nsv881712,nsv881718,nsv881716,nsv881713 M 6533 0 12 ELOVL7,ERCC8,NDUFAF2 IS30522,IS31067,IS31706,IS32289,IS34645,IS34962,IS35196,IS35742,IS36244,IS38263,IS39784,IS39788 dgv6077n71 5 60152370 60408339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881717,nsv881715 M 6533 0 2 ELOVL7,ERCC8,NDUFAF2 IS35229,SP53791 nsv462199 5 60165118 60365381 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538419 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ELOVL7,ERCC8,NDUFAF2 HGDP00428 esv29921 5 60167597 60168677 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18363 S 451 0 1 ELOVL7 NA19129 nsv462200 5 60171742 60302632 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538420 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ELOVL7,ERCC8,NDUFAF2 HGDP00565 nsv520871 5 60177002 60355914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687059,nssv676645 M 2026 0 2 ERCC8,NDUFAF2 nsv881719 5 60203645 60277583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500195 S 6533 0 1 ERCC8,NDUFAF2 SP50649 nsv881720 5 60251238 60273741 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507190 S 6533 0 1 ERCC8 SP54490 nsv881721 5 60268403 60380156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519648 S 6533 0 1 ERCC8,NDUFAF2 SP50101 nsv518695 5 60302632 60365381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696146 S 2026 0 1 NDUFAF2 nsv881722 5 60302632 60419928 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563091 S 6533 1 0 NDUFAF2 MS25854 nsv4853 5 60363455 60398187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3355 S 9 1 0 NDUFAF2 NA12878 esv271023 5 60434411 60434678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557898,essv2565611,essv2522710,essv2577439,essv2547591 M 157 5 0 Samples from several populations that are part of the HapMap project. NDUFAF2 NA10851,NA11829,NA11931,NA12043,NA12717 esv2449569 5 60435643 60441908 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367694 S 1 0 1 NDUFAF2 NA18507 esv2426519 5 60435945 60440814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227720 S 1 0 1 NDUFAF2 NA18507 esv2198788 5 60436505 60440423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790259 S 1 0 1 NDUFAF2 NA18507 nsv329596 5 60436674 60440257 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348174 M 24 NDUFAF2 esv25303 5 60436707 60438037 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15217 S 451 0 2 NDUFAF2 NA19190,NA19225 esv2644354 5 60568777 60569167 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333748 S 1 0 1 "" NA18507 nsv823088 5 60608337 60613163 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440342 S 31 0 1 "" NA18564 nsv441955 5 60608904 60612617 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv510898 5 60610578 60623661 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618608 S 4 0 0 "" CHM nsv823089 5 60625258 60705660 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438813 S 31 1 0 ZSWIM6 NA18973 esv22368 5 60661134 60665513 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19714 S 451 1 3 ZSWIM6 NA11993,NA15510,NA18511,NA18907 nsv522826 5 60790176 60795281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698476 S 2026 0 1 ZSWIM6 nsv823090 5 60794672 60795216 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436611 S 31 0 1 ZSWIM6 NA18542 nsv509969 5 60911559 60917559 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622088 S 4 0 1 "" NA10860 nsv521793 5 60966062 60966341 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694563 S 2026 0 1 "" nsv329503 5 61074889 61074889 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348081 M 24 "" esv259950 5 61153451 61153780 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395609 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501 nsv881723 5 61219132 61347472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586445 S 6533 0 1 "" IS37801 nsv4856 5 61250977 61285111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv473 S 9 1 0 "" NA19240 esv25971 5 61273372 61275011 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13035 S 451 1 0 "" NA18523 nsv881724 5 61292916 61354181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506245 S 6533 0 1 "" SP54095 nsv881725 5 61301577 61412077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555298 S 6533 0 1 "" MS21258 nsv508363 5 61322835 61398642 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622524 S 4 0 1 "" NA18994 esv2619200 5 61328648 61330278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305277 S 1 0 1 "" NA18507 esv2046885 5 61329197 61329907 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842471 S 1 0 1 "" NA18507 nsv328195 5 61329384 61329709 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346773 M 24 "" esv993704 5 61329389 61329714 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581519 S 3 0 1 "" HuRef esv7742 5 61329396 61329710 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30183 S 1 0 1 "" SJK esv1507195 5 61329397 61329723 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365813 S 2 0 1 "" HuRef nsv830317 5 61334597 61513870 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444502 S 95 1 0 "" esv2426754 5 61376396 61376676 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179976 S 1 0 1 "" NA18507 dgv1801e1 5 61438895 61784669 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10517,essv1927,essv16920,esv632,essv16040,essv22555,essv17927 M 271 0 0 DIMT1,IPO11,KIF2A NA07348,NA12003,NA18501,NA18959,NA19144,NA19240 nsv830318 5 61451470 61659077 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444503,nssv1444504 M 95 2 0 KIF2A nsv4857 5 61452876 61485763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4841 S 9 1 0 "" NA19129 dgv706n27 5 61463894 61497366 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462202,nsv462201 M 1557 0 2 "" HGDP00573,HGDP00590 nsv471014 5 61463894 61497366 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545118,nssv545121,nssv545119 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00573,HGDP00590,HGDP00605 esv22698 5 61537708 61591513 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11317 S 451 5 0 "" NA15510,NA18502,NA18861,NA19240,NA19257 nsv821303 5 61537708 61591513 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420521 S 1 1 0 "" NA10851 nsv10702 5 61546192 61587819 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14161,nssv14288,nssv13057 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155,NA19240 nsv881726 5 61592487 61712668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600488 S 6533 1 0 KIF2A IS41889 esv996027 5 61605113 61612802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563800 S 3 0 1 "" HuRef esv23909 5 61610488 61612132 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12149,esv11302 M 451 0 3 "" NA12004,NA12044,NA12776 esv268630 5 61610501 61610586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517029 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 esv990716 5 61611121 61612135 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587096 S 3 0 1 "" HuRef nsv823091 5 61611121 61612135 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432859,nssv1425750,nssv1423399,nssv1439896,nssv1436612 M 31 0 5 "" AK4,NA18542,NA18547,NA18972,NA18999 nsv881727 5 61613798 61736727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579827 S 6533 0 1 DIMT1,KIF2A IS35181 nsv10703 5 61631935 61637250 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13374 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18975 nsv881728 5 61666636 61893334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591691 S 6533 0 1 DIMT1,IPO11,KIF2A IS39011 esv268685 5 61671086 61671431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516981,essv2518740,essv2516598,essv2517930,essv2515939,essv2517748,essv2518323 M 157 7 0 Samples from several populations that are part of the HapMap project. KIF2A NA11931,NA12045,NA12814,NA12872,NA12873,NA12878,NA19240 esv273821 5 61671086 61671431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581072 S 7 1 0 Samples from several populations that are part of the HapMap project. KIF2A NA19240 essv5631 5 61685160 61784669 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DIMT1,IPO11,KIF2A NA18579 esv35035 5 61693700 61828000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979611,essv6979612,essv6986905 M 771 1 0 DIMT1,IPO11,KIF2A NA18579 dgv6078n71 5 61755263 61919337 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881729,nsv881730 M 6533 0 2 IPO11,LRRC70 IS31558,IS35018 nsv10704 5 61783295 61785892 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13250,nssv14191 M 31 0 2 Samples from several populations that are part of the HapMap project. IPO11 NA18853,NA19240 esv23269 5 61783882 61785150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14501 S 451 0 3 IPO11 NA18505,NA18523,NA19240 nsv881731 5 61829921 61976799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577612 S 6533 0 1 IPO11,LRRC70 IS34497 esv273408 5 61831054 61831309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580793,essv2579588 M 7 2 0 Samples from several populations that are part of the HapMap project. IPO11 NA19238,NA19240 nsv881732 5 61847727 62099122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600489 S 6533 1 0 IPO11,LRRC70 IS41889 dgv6079n71 5 61863904 61913384 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881735,nsv881733,nsv881736 M 6533 0 6 IPO11,LRRC70 SP50120,SP50725,SP53041,SP53687,SP56185,SP57418 nsv881734 5 61863904 61957571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513109,nssv1507191 M 6533 0 2 IPO11,LRRC70 SP54490,SP55684 nsv328503 5 61891527 61892859 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347081 M 24 IPO11 esv273151 5 61892830 61893194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580233,essv2580469,essv2579878,essv2578968 M 7 4 0 Samples from several populations that are part of the HapMap project. IPO11 NA12878,NA12891,NA12892,NA19239 esv267428 5 61892842 61893180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571607,essv2526037,essv2542306,essv2544034,essv2556775,essv2545299,essv2577587,essv2570709,essv2521552,essv2550587,essv2525250,essv2534961,essv2554197,essv2544365,essv2552039,essv2547399,essv2564734,essv2553511,essv2520230,essv2564261,essv2561806,essv2537538,essv2528611,essv2546664,essv2540202,essv2557100,essv2552640,essv2551826,essv2532099,essv2536935,essv2538939,essv2561608,essv2563054,essv2523826,essv2541102,essv2524617,essv2564872,essv2534733,essv2539840,essv2549138,essv2566315,essv2531209,essv2532691,essv2535733,essv2572343,essv2541898,essv2569032,essv2543781,essv2562475,essv2539311,essv2533829,essv2555466,essv2566648,essv2529935,essv2573905,essv2557713,essv2534197,essv2525728,essv2529498,essv2575236,essv2560823,essv2545088,essv2549881,essv2551353,essv2536185,essv2538045,essv2548900,essv2532965,essv2525102,essv2563455,essv2557783 M 157 71 0 Samples from several populations that are part of the HapMap project. IPO11 NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11840,NA11918,NA11919,NA11992,NA11994,NA12003,NA12043,NA12044,NA12144,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12717,NA12751,NA12763,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18489,NA18501,NA18502,NA18504,NA18505,NA18517,NA18519,NA18523,NA18532,NA18537,NA18545,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18608,NA18609,NA18856,NA18861,NA18870,NA18909,NA18912,NA18916,NA18943,NA18948,NA18949,NA18951,NA18953,NA18959,NA18980,NA19093,NA19102,NA19137,NA19172,NA19225,NA19257 nsv329525 5 61892876 61892876 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348103 M 24 IPO11 nsv881737 5 61893334 61913384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512857 S 6533 0 1 IPO11,LRRC70 SP55647 esv2591326 5 61917905 61919281 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338859 S 1 0 1 IPO11 NA18507 esv2005948 5 61929834 61930266 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993690 S 1 0 1 IPO11 NA18507 nsv328501 5 61929991 61930130 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347079 M 24 IPO11 nsv4858 5 61958062 62002717 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2524 S 9 0 1 IPO11 NA18555 nsv4859 5 61998898 62030919 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6000 S 9 1 0 "" NA12156 dgv1802e1 5 62067121 62138099 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6519,esv1147 M 271 0 0 "" NA18572 nsv10706 5 62075480 62141170 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12229 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18572 dgv6080n71 5 62075716 62146666 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881739,nsv881740,nsv881738 M 6533 3 0 "" IS34358,MS14939,SP53196 esv34525 5 62083400 62138100 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990382,essv6979574,essv6979573,essv6986893,essv6986894 M 771 1 0 "" NA18572 nsv521534 5 62126018 62129790 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694087 S 2026 1 0 "" dgv948n67 5 62185937 62186973 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823092,nsv823093 M 31 0 3 "" AK14,NA18542,NA18972 nsv327506 5 62204298 62205006 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346084 M 24 "" nsv881741 5 62230358 62483705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552186 S 6533 0 1 "" MS19277 nsv830319 5 62247167 62429623 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444505 S 95 1 0 "" nsv519953 5 62509099 62509786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677285,nssv661944,nssv672430,nssv662720,nssv682070,nssv661547,nssv659619 M 2026 0 7 "" esv2439996 5 62536326 62536950 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254801 S 1 1 0 "" NA18507 nsv830320 5 62631413 62813350 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444507 S 95 1 0 "" nsv526958 5 62640000 62649397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703330 S 2026 0 1 "" nsv522800 5 62647459 62649397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698445 S 2026 0 1 "" esv2367834 5 62723012 62723641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557613 S 1 0 1 "" NA18507 esv1003281 5 62723056 62724153 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564674 S 3 0 1 "" HuRef esv4524 5 62723089 62723522 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26965 S 1 0 1 Single Asian sample YH "" YH esv1003425 5 62723193 62723463 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584248 S 3 0 1 "" HuRef nsv328628 5 62723195 62723464 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347206 M 24 "" esv2524480 5 62739954 62741688 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222389 S 1 0 1 "" NA18507 esv2393130 5 62740001 62740718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518327 S 1 0 1 "" NA18507 esv4335 5 62740139 62740599 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26776 S 1 0 1 Single Asian sample YH "" YH esv2569819 5 62740204 62740526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313458 S 1 0 1 "" NA18507 esv8376 5 62740207 62740539 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30817 S 1 0 1 "" SJK nsv462203 5 62745386 62896952 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538423 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00556 nsv830321 5 62751170 62800561 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444509,nssv1444508 M 95 0 2 "" nsv471015 5 62761042 62853710 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545122 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00556 esv2650813 5 62861816 62863320 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209837 S 1 0 1 "" NA18507 nsv4860 5 63264592 63299372 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3356 S 9 1 0 HTR1A NA12878 nsv830322 5 63542949 63686569 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444510 S 95 1 0 RNF180 esv2638843 5 63611390 63612637 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334891 S 1 0 1 RNF180 NA18507 esv2514773 5 63674213 63675620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381339 S 1 0 1 RNF180 NA18507 nsv830323 5 63707477 63899810 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444511 S 95 1 0 RGS7BP dgv6081n71 5 63715205 63818332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881742,nsv881743 M 6533 0 16 "" MS19683,SP51259,SP53625,SP54063,SP54812,SP54916,SP55339,SP55369,SP56708,SP56938,SP57165,SP57681,SP58328,SP81141,SP81387,SP81543 nsv819633 5 63733475 63737849 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419632 S 2 1 0 "" AK1 nsv821441 5 63733688 63737168 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420522 S 1 0 1 "" NA10851 esv23363 5 63733722 63739453 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13435,esv11865 M 451 32 2 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514308 5 63735480 63737012 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627753 S 1414 0 1 "" nsv881744 5 63744144 63817776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502901,nssv1511885,nssv1500785,nssv1504129,nssv1517060 M 6533 0 5 "" SP51007,SP51449,SP52234,SP55160,SP57078 nsv462204 5 63746311 63831223 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538424 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00774 nsv7370 5 63762335 63847375 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10455,nssv9669,nssv4842,nssv9411,nssv3357 M 9 0 0 RGS7BP NA12878,NA18507,NA18517,NA18956,NA19129 esv2068855 5 63766560 63766944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954281 S 1 0 1 "" NA18507 esv2042952 5 63768242 63768677 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789205 S 1 0 1 "" NA18507 esv1688818 5 63768393 63768467 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144265 S 2 0 1 "" HuRef nsv830324 5 63789206 64017810 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444512 S 95 0 1 RGS7BP esv990678 5 63797620 63814141 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564923 S 3 0 0 "" HuRef nsv499754 5 63797701 63813456 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585551 S 9 0 0 "" esv1394136 5 63800180 63811001 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642101 S 2 0 0 "" HuRef nsv499543 5 63802466 63808779 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585552 S 9 0 0 "" nsv4861 5 63815842 63860951 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8109 S 9 0 1 RGS7BP NA12156 dgv6082n71 5 63831223 63908718 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881746,nsv881745 M 6533 0 3 RGS7BP IS34762,IS35190,IS40627 dgv6083n71 5 63863265 64545463 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881751,nsv881752,nsv881749,nsv881753,nsv881750,nsv881754,nsv881747 M 6533 7 0 ADAMTS6,CWC27,FAM159B,RGS7BP,SREK1IP1 MS11157,MS12493,MS17316,MS20854,MS23789,MS24783,MS25375 nsv881748 5 63873027 64047836 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557031 S 6533 1 0 FAM159B,RGS7BP MS22338 esv268374 5 63893412 63893656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496035,essv2501321,essv2511928,essv2498237 M 157 4 0 Samples from several populations that are part of the HapMap project. RGS7BP NA18961,NA19093,NA19238,NA19240 esv272469 5 63893415 63893646 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580277,essv2580995,essv2579279 M 7 3 0 Samples from several populations that are part of the HapMap project. RGS7BP NA12891,NA19238,NA19239 nsv508364 5 63921618 64004962 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618768 S 4 0 1 RGS7BP NA10860 esv2207983 5 63956691 63957121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530317 S 1 0 1 "" NA18507 esv2752074 5 63968206 64065130 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984066,essv6984067,essv6984068 M 771 1 0 FAM159B,SREK1IP1 BEC_765 esv274302 5 63968626 63968973 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580873,essv2579791 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270076 5 63968652 63968952 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571808,essv2523146,essv2577386,essv2548190,essv2564286,essv2530791,essv2528582 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12004,NA12043,NA12045,NA12828,NA12873,NA12891 nsv881755 5 64101033 64376109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557032 S 6533 1 0 CWC27 MS22338 esv2632537 5 64148006 64149408 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235116 S 1 0 1 CWC27 NA18507 nsv881756 5 64309150 64376109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568782 S 6533 0 1 CWC27 IS31338 esv2567621 5 64321119 64322714 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303627 S 1 0 1 CWC27 NA18507 esv2176429 5 64321625 64322346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675489 S 1 0 1 CWC27 NA18507 esv5695 5 64321804 64322154 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28136 S 1 0 1 CWC27 SJK esv1006564 5 64321813 64322149 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575468 S 3 0 1 CWC27 HuRef esv2441864 5 64321813 64322149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164494 S 1 0 1 CWC27 NA18507 nsv330028 5 64321827 64322163 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348606 M 24 CWC27 dgv6084n71 5 64392698 64545463 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881757,nsv881758 M 6533 2 0 ADAMTS6 MS11157,MS22338 nsv4862 5 64405293 64435816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4843 S 9 1 0 "" NA19129 esv33603 5 64410949 64411300 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101219 S 51 0 1 "" 21618 nsv4863 5 64455910 64488084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10456 S 9 1 0 ADAMTS6 NA18956 nsv512852 5 64503618 64503788 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625493 S 1 1 0 ADAMTS6 1 nsv830325 5 64526593 64716405 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444513 S 95 1 0 ADAMTS6 esv8314 5 64576610 64576669 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30755 S 1 1 0 ADAMTS6 SJK esv26770 5 64640033 64640607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15815 S 451 0 1 ADAMTS6 NA07045 nsv517021 5 65027976 65040961 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653629,nssv667325,nssv672116,nssv670354,nssv677626,nssv676019,nssv685054,nssv668187,nssv653963,nssv668930,nssv671577,nssv668060,nssv672937,nssv690165,nssv689615,nssv673762,nssv658956,nssv687230 M 2026 0 18 SGTB esv29005 5 65063884 65066078 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12359 S 451 2 0 NLN NA12239,NA12749 nsv820637 5 65063884 65066078 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420523 S 1 0 1 NLN NA10851 nsv507256 5 65070691 65076691 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620299,nssv621793,nssv622938,nssv617674 M 4 4 0 NLN CHM,NA10860,NA15510,NA18994 nsv4864 5 65210095 65222974 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3358 S 9 1 0 "" NA12878 nsv830327 5 65242230 65364579 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444514,nssv1444516,nssv1444515 M 95 3 0 ERBB2IP,LOC100303749 nsv881759 5 65248864 65317482 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511352 S 6533 0 1 ERBB2IP,LOC100303749 SP55021 esv23411 5 65257066 65258187 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18020 S 451 0 1 ERBB2IP NA12414 esv2381441 5 65262409 65262817 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772883 S 1 0 1 ERBB2IP NA18507 esv29131 5 65304211 65306468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11228 S 451 0 3 ERBB2IP NA18502,NA19114,NA19257 nsv517132 5 65304426 65304630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659841,nssv679445,nssv653836,nssv654015,nssv672220,nssv687944,nssv675952,nssv692561,nssv668362,nssv662545,nssv657970,nssv686509,nssv658233,nssv658897,nssv652490,nssv651792,nssv673212,nssv685427,nssv685651,nssv690166,nssv672331,nssv657511,nssv671947,nssv659287,nssv659228,nssv666007,nssv674574,nssv664742,nssv693112,nssv687301,nssv671243,nssv656708,nssv660801,nssv659786,nssv678736,nssv687533,nssv671723,nssv667533,nssv668566,nssv675240,nssv672904,nssv661307,nssv691812,nssv661548,nssv668061 M 2026 0 45 ERBB2IP nsv525852 5 65304426 65310067 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702046 S 2026 0 1 ERBB2IP nsv518239 5 65304426 65357067 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695671 S 2026 0 1 ERBB2IP esv2411305 5 65349859 65350340 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958410 S 1 0 1 ERBB2IP NA18507 esv2472252 5 65381166 65383117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245379 S 1 0 1 ERBB2IP NA18507 esv2151663 5 65381625 65382319 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969843 S 1 0 1 ERBB2IP NA18507 esv4869 5 65381744 65382299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27310 S 1 0 1 Single Asian sample YH ERBB2IP YH esv1010663 5 65381797 65382126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575317 S 3 0 1 ERBB2IP HuRef esv7534 5 65381812 65382140 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29975 S 1 0 1 ERBB2IP SJK esv1036921 5 65381812 65382142 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625258 S 2 0 1 ERBB2IP HuRef nsv830328 5 65420291 65627110 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444519 S 95 1 0 SREK1 dgv23e24 5 65471104 65471766 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750697,esv2750538,esv2750691,esv2750546,esv2750496,esv2750506,esv2750582,esv2750589,esv2750608,esv2750649,esv2750675,esv2750699,esv2750720,esv2750766,esv2750774,esv2750669,esv2750560,esv2750665 M 51 0 18 "" 21618,21634,21693,21721,21791,21863,21872,21879,21909,21911,21932,21944,22011,22128,22233,22278,22298,22335 esv33447 5 65479484 65479742 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93167,essv92684 M 51 0 2 SREK1 21863,21944 nsv525178 5 65567923 65572109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701254 S 2026 0 1 "" esv271784 5 65605360 65605690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521454,essv2542559,essv2550335,essv2547434,essv2529293,essv2565520,essv2520223,essv2562106,essv2537691,essv2528320,essv2558792,essv2569693,essv2527348,essv2544822,essv2541090,essv2542885,essv2534893,essv2566072,essv2528154,essv2534036,essv2567099,essv2556005,essv2577075,essv2529596,essv2575261,essv2524073,essv2554725 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11919,NA12234,NA12717,NA12749,NA12812,NA12815,NA12874,NA12878,NA12891,NA18516,NA18520,NA18522,NA18526,NA18545,NA18550,NA18561,NA18572,NA18907,NA18916,NA18947,NA18956,NA18970,NA19093,NA19102,NA19129 esv273244 5 65605365 65605693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581669,essv2583125 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv520876 5 65694877 65701669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676786,nssv686409 M 2026 0 2 "" esv34119 5 65828585 66250032 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MAST4 esv1607767 5 65853844 65853893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945141 S 2 0 1 "" HuRef esv1505232 5 65853901 65854154 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4316796 S 2 0 1 "" HuRef nsv508365 5 65889567 65938544 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619958 S 4 0 1 MAST4 NA15510 nsv527623 5 65913718 65915157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704090 S 2026 0 1 "" esv24501 5 65927362 65928656 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16217 S 451 0 1 MAST4 NA18511 nsv881760 5 65936575 65964968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565344 S 6533 0 1 MAST4 IS30398 esv2439275 5 65976807 65978267 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238353 S 1 0 1 MAST4 NA18507 nsv522181 5 66044113 66067060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694954 S 2026 0 1 MAST4 esv273910 5 66053099 66053427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581679,essv2582409 M 7 2 0 Samples from several populations that are part of the HapMap project. MAST4 NA12878,NA12891 esv268762 5 66053101 66053437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504050,essv2506294,essv2507039,essv2493923,essv2512042,essv2498022,essv2502069 M 157 7 0 Samples from several populations that are part of the HapMap project. MAST4 NA18505,NA18523,NA18870,NA18871,NA19238,NA19240,NA19257 nsv516753 5 66151738 66153861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686318,nssv656641,nssv660255,nssv688620,nssv675819,nssv670634,nssv676761 M 2026 0 7 MAST4 esv2580346 5 66160829 66162291 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321451 S 1 0 1 MAST4 NA18507 nsv509970 5 66188302 66194302 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622089,nssv623976 M 4 0 2 MAST4 NA10860,NA18994 esv34053 5 66208428 66239371 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MAST4 esv2496676 5 66238004 66239407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195186 S 1 0 1 MAST4 NA18507 esv2079875 5 66238522 66239123 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4767966 S 1 0 1 MAST4 NA18507 esv2028067 5 66251321 66251746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638514 S 1 0 1 MAST4 NA18507 nsv507257 5 66318822 66324822 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622939,nssv620300,nssv617675,nssv621794 M 4 4 0 MAST4 CHM,NA10860,NA15510,NA18994 dgv6085n71 5 66353021 66646666 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881761,nsv881762 M 6533 3 0 CD180,MAST4 IS30224,IS37775,IS39860 dgv1803e1 5 66393681 66586635 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16352,esv467 M 271 0 0 CD180,MAST4 NA19193 esv271930 5 66608205 66608290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514317 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv830329 5 66618383 66813343 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444520 S 95 1 0 "" nsv830330 5 66705818 66891261 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444521 S 95 0 1 "" nsv521664 5 66719145 66722326 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698283 S 2026 0 1 "" nsv515715 5 66856030 66856251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655456,nssv669040,nssv689250,nssv664512 M 2026 0 4 "" nsv524512 5 66869753 66871036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700456 S 2026 0 1 "" esv2653396 5 66908185 66909692 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330913 S 1 0 1 "" NA18507 nsv4865 5 67066180 67098588 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6001 S 9 1 0 "" NA12156 nsv881763 5 67138330 67233711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537248 S 6533 1 0 "" MS13135 esv26281 5 67139149 67140953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11487 S 451 0 1 "" NA18909 dgv707n27 5 67156957 67220978 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462208,nsv462205,nsv462207,nsv462209 M 1557 4 0 "" HGDP00029,HGDP00054,HGDP00064,HGDP00072 nsv471017 5 67156957 67220978 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545123,nssv545125,nssv545124 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00054,HGDP00064,HGDP00072 nsv507258 5 67250681 67256681 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621795 S 4 1 0 "" NA10860 nsv4867 5 67274695 67306988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6002 S 9 1 0 "" NA12156 nsv881764 5 67287006 67336205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539403 S 6533 1 0 "" MS14323 nsv4868 5 67333919 67359016 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8110 S 9 0 1 "" NA12156 nsv508366 5 67359345 67415272 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618769 S 4 0 1 "" NA10860 nsv329291 5 67403145 67403959 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347869 M 24 "" esv24021 5 67452953 67466664 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12502 S 451 1 0 "" NA18916 nsv819516 5 67529513 67533737 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419616 S 2 0 1 "" AK1 esv28511 5 67545263 67548899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16752 S 451 0 2 PIK3R1 NA12414,NA18511 nsv517504 5 67575723 67575927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672089,nssv658195,nssv652209 M 2026 0 3 PIK3R1 nsv830331 5 67583583 67748693 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444522 S 95 1 0 PIK3R1 esv1041177 5 67594391 67594391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104114 S 2 1 0 PIK3R1 HuRef nsv462210 5 67607169 67647242 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538430 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIK3R1 HGDP01230 nsv4869 5 67871329 67903231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6003 S 9 1 0 "" NA12156 esv2426381 5 67946652 67948129 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167450 S 1 0 1 "" NA18507 esv270105 5 67978091 67978176 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513851 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv26758 5 67986345 67987424 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11710 S 451 1 0 "" NA18511 nsv527027 5 68065763 68068178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703402 S 2026 0 1 "" esv4568 5 68141621 68141851 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27009 S 1 0 1 Single Asian sample YH "" YH nsv328643 5 68170500 68174971 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347221 M 24 "" esv1170875 5 68196350 68196350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030943 S 2 1 0 "" HuRef esv269983 5 68226782 68226907 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2550015,essv2536880,essv2538974,essv2527043,essv2561483,essv2566786,essv2528043,essv2538543,essv2560550,essv2572764 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18517,NA18519,NA18522,NA18523,NA18853,NA18907,NA19108,NA19116,NA19143 nsv830332 5 68274044 68318437 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444523 S 95 0 1 "" esv1001926 5 68317213 68327916 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564231 S 3 0 1 "" HuRef esv21827 5 68355327 68356514 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17753 S 451 0 2 "" NA07045,NA11993 nsv329221 5 68387083 68387083 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347799 M 24 "" nsv881765 5 68415592 68484450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570291 S 6533 0 1 SLC30A5 IS31875 nsv881766 5 68437697 68484450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595922,nssv1591481,nssv1586286 M 6533 0 3 SLC30A5 IS37730,IS38846,IS40368 nsv329464 5 68465796 68465903 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348042 M 24 "" nsv527990 5 68484450 68490922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704513 S 2026 0 1 "" nsv509066 5 68500132 68558002 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620821 S 4 1 0 CCNB1,CENPH,MRPS36 NA15510 nsv821643 5 68604421 70408241 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421395,nssv1421402,nssv1421398,nssv1421401,nssv1421393,nssv1421400,nssv1421394,nssv1421399,nssv1421391,nssv1421390,nssv1421397,nssv1421392 M 31 0 12 CCDC125,CDK7,GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,MARVELD2,NAIP,OCLN,RAD17,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2,TAF9 nsv881767 5 68661542 68769454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581709 S 6533 0 1 MARVELD2,RAD17,SMA4,TAF9 IS35701 nsv881768 5 68661542 70715382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598151 S 6533 0 1 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,MARVELD2,NAIP,OCLN,PMCHL2,RAD17,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2,TAF9 IS41317 esv1765216 5 68668757 68668757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070794 S 2 1 0 "" HuRef nsv428117 5 68679037 70831640 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450454,nssv450447,nssv450440,nssv450430,nssv450429,nssv450450,nssv450434,nssv450446,nssv450439,nssv450460,nssv450445,nssv450458,nssv450452,nssv450436,nssv450441,nssv450428,nssv450457,nssv450432,nssv450449,nssv450461,nssv450455,nssv450433,nssv450451,nssv450437,nssv450448,nssv450444,nssv450459,nssv450438,nssv450435,nssv450427,nssv450456,nssv450443 M 62 20 9 BDP1,GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,MARVELD2,NAIP,OCLN,PMCHL2,RAD17,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2,TAF9 HGDP00449,HGDP00450,HGDP00460,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01089,HGDP01093,HGDP01094,NA18498,NA19096,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 esv1308626 5 68709207 68709207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194120 S 2 1 0 RAD17 HuRef esv2435100 5 68758883 68760569 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242634 S 1 0 1 MARVELD2,SMA4 NA18507 esv2030621 5 68759614 68760439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715431 S 1 0 1 MARVELD2,SMA4 NA18507 esv9527 5 68759770 68760256 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31968 S 1 0 1 MARVELD2,SMA4 SJK dgv6086n71 5 68799305 70798815 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881769,nsv881773 M 6533 2 0 BDP1,GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,NAIP,OCLN,PMCHL2,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 IS39243,SP55671 nsv329061 5 68845276 68845276 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347639 M 24 OCLN,SMA4 nsv514309 5 68857344 68890304 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627754 S 1414 0 0 LOC647859,OCLN,SMA4 nsv10707 5 68862708 70697011 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13166,nssv12550,nssv13146,nssv13037,nssv15593,nssv13714,nssv12670,nssv15660,nssv12892,nssv13806,nssv13548,nssv14438,nssv15863,nssv14439,nssv12695,nssv13296,nssv14863,nssv13235,nssv13889,nssv15720,nssv13518,nssv13684,nssv14682,nssv13456,nssv13340,nssv14592,nssv13306,nssv13256,nssv13584,nssv15043,nssv14251,nssv13326,nssv13816,nssv14199,nssv14931,nssv15267,nssv13155,nssv14893,nssv14311,nssv12490,nssv13490,nssv13636,nssv13455,nssv13596,nssv13624,nssv15524,nssv12610,nssv14139,nssv13618,nssv15231,nssv15201,nssv15261,nssv13370,nssv13623,nssv13357,nssv15177,nssv14937,nssv15057,nssv12400,nssv13127,nssv14983,nssv13829,nssv13626,nssv12665,nssv14991,nssv13336,nssv13246,nssv15554,nssv15750,nssv13536,nssv13266,nssv13366,nssv13396,nssv13833,nssv13578,nssv13245,nssv15743,nssv13989,nssv15081,nssv13460,nssv15237,nssv13983,nssv14281,nssv15713,nssv13836,nssv13494,nssv13386,nssv15833,nssv13606,nssv13486,nssv15464,nssv13776,nssv14652,nssv13485,nssv13683,nssv13524,nssv12995,nssv14622,nssv15803,nssv12982,nssv14803,nssv13335,nssv14348,nssv13226,nssv13297,nssv12875,nssv14049,nssv13488,nssv15087,nssv12640,nssv13708,nssv15254,nssv15503,nssv12922,nssv13267,nssv15163,nssv14802,nssv13310,nssv12845,nssv13863,nssv13506,nssv12491,nssv13566,nssv13116,nssv15404,nssv14221,nssv13395,nssv13237,nssv14289,nssv13713,nssv13929,nssv12935,nssv13773,nssv15073,nssv13145,nssv13893,nssv13520,nssv14109,nssv13505,nssv14923,nssv12520,nssv13716,nssv13535,nssv13276,nssv13475,nssv13275,nssv13055,nssv13025,nssv13186,nssv13953,nssv13923,nssv12725,nssv13666,nssv13012,nssv14907,nssv14961,nssv14727,nssv15133,nssv13696,nssv13176,nssv15494,nssv13042,nssv14967,nssv13196,nssv15051,nssv13558,nssv13528,nssv13919,nssv14349,nssv13803,nssv13327,nssv14371,nssv13774,nssv15027,nssv12977,nssv13215,nssv13899,nssv14847,nssv12952,nssv13608,nssv13207,nssv14499,nssv15374,nssv14532,nssv13262,nssv15224,nssv12862,nssv13187,nssv13295,nssv13445,nssv15810,nssv13365,nssv13355,nssv13464,nssv13026,nssv13949,nssv14997,nssv13653,nssv13447,nssv13864,nssv13648,nssv13265,nssv15147,nssv14562,nssv13446,nssv13172,nssv14469,nssv13202,nssv14319,nssv13804,nssv14229,nssv13638,nssv14019,nssv13726,nssv13554,nssv12996,nssv13686,nssv15563,nssv14259,nssv13115,nssv14712,nssv13576,nssv13280,nssv13067,nssv13924,nssv13322,nssv13516,nssv13834,nssv13142,nssv15284,nssv12815,nssv14833,nssv12370,nssv13678,nssv12319,nssv13125,nssv13546,nssv15344,nssv13185,nssv13007,nssv13656,nssv15683,nssv13117,nssv12460,nssv13859,nssv15141,nssv12259,nssv14877,nssv13305,nssv12289,nssv15207,nssv13292,nssv13216,nssv14953,nssv13894,nssv13984,nssv13286,nssv13205,nssv12905,nssv13385,nssv13954,nssv13325,nssv13476,nssv15690,nssv14341,nssv15653,nssv13400,nssv13387,nssv13175,nssv13588,nssv12785,nssv13206,nssv13236,nssv12580,nssv15623,nssv13786,nssv13565,nssv12521,nssv13157,nssv13654,nssv15533,nssv15021,nssv14378,nssv12965,nssv13458,nssv13959,nssv15013,nssv14379,nssv13404,nssv14318,nssv13147,nssv12461,nssv13356,nssv13232,nssv13177,nssv14169,nssv14817,nssv13405,nssv13056,nssv15171,nssv13869,nssv15314,nssv13465 M 31 29 13 Samples from several populations that are part of the HapMap project. GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,NAIP,OCLN,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv881770 5 68862825 68950807 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585310,nssv1586718,nssv1591231,nssv1564697 M 6533 4 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,OCLN,SMA4 IS30284,IS37415,IS37963,IS38658 nsv881771 5 68864052 68940434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501677,nssv1504019,nssv1503027 M 6533 0 3 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,OCLN,SMA4 SP50973,SP51480,SP52161 esv32846 5 68864771 69741347 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94583 S 51 0 1 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,OCLN,SERF1A,SERF1B,SMA4,SMN1,SMN2 21932 esv22113 5 68865204 70697786 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17701,esv16414,esv17378,esv12092,esv12170,esv21096,esv17258,esv18751,esv16697,esv13923,esv16122,esv21405,esv14846,esv19631,esv16733,esv16969,esv13502,esv17729,esv17253,esv14782,esv17525,esv20827,esv20698,esv17531,esv21364,esv10572,esv18486,esv15058,esv17076,esv20684,esv11562,esv20437,esv9822,esv16061,esv10708,esv21372,esv21247,esv19032,esv19842,esv16040,esv18930,esv18523,esv17372,esv14795,esv17424,esv18024,esv20207,esv10440,esv11389,esv20714,esv17546,esv10675,esv11712,esv10644,esv20041,esv21154,esv11774,esv9811,esv19217,esv10489,esv14529,esv11749,esv21413,esv14968,esv13002,esv13648,esv18421,esv19955 M 451 40 12 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,LOC647859,NAIP,OCLN,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1009388 5 68886253 68949193 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586467 S 3 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,OCLN,SMA4 HuRef nsv471498 5 68887001 69356689 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547836,nssv547835,nssv547837 M 3 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100272216,OCLN,SMA4 nsv881772 5 68893593 69096757 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519534 S 6533 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,LOC100272216,SMA4 SP81074 nsv433371 5 68899306 70033323 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463252 S 9 1 0 Samples from several populations that are part of the HapMap project. GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,LOC100272216,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA18517 nsv507259 5 68954453 68960453 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622940,nssv621796,nssv620301,nssv617676 M 4 4 0 SMA4 CHM,NA10860,NA15510,NA18994 nsv821218 5 68960770 69235279 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420524 S 1 0 1 GUSBP3,GUSBP9,LOC100272216,SMA4 NA10851 nsv830333 5 68979794 69200031 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444582,nssv1444575,nssv1444537,nssv1444528,nssv1444571,nssv1444546,nssv1444531,nssv1444570,nssv1444569,nssv1444539,nssv1444574,nssv1444545,nssv1444572,nssv1444542,nssv1444544,nssv1444536,nssv1444543,nssv1444550,nssv1444555,nssv1444547,nssv1444549,nssv1444548,nssv1444581,nssv1444552,nssv1444554,nssv1444527,nssv1444580,nssv1444577,nssv1444556,nssv1444579,nssv1444553,nssv1444578,nssv1444530,nssv1444559,nssv1444583,nssv1444558,nssv1444568,nssv1444535,nssv1444557,nssv1444526,nssv1444541,nssv1444561,nssv1444585,nssv1444560,nssv1444576,nssv1444586,nssv1444532,nssv1444567,nssv1444564,nssv1444566,nssv1444563,nssv1444534,nssv1444565,nssv1444525,nssv1444524,nssv1444533,nssv1444538 M 95 57 0 GUSBP3,SMA4 nsv881774 5 68999018 69157644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545469 S 6533 0 1 GUSBP3,SMA4 MS16801 dgv6087n71 5 68999018 69506345 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881776,nsv881781,nsv881775,nsv881777 M 6533 0 4 GUSBP3,GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS10758,MS13400,MS18979,SP53491 dgv6088n71 5 69016198 69221673 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881778,nsv881783,nsv881780,nsv881784 M 6533 0 4 GUSBP3,GUSBP9,SMA4 IS30054,MS10121,MS19891,MS20627 nsv881779 5 69027097 69788867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600576 S 6533 0 1 GTF2H2B,GTF2H2C,GTF2H2D,GUSBP3,GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS41898 nsv511292 5 69030131 69216329 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625143 S 1 1 0 GUSBP3,GUSBP9,SMA4 1 nsv881782 5 69044882 69221673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539863 S 6533 1 0 GUSBP9,SMA4 MS14526 dgv6089n71 5 69049740 69378501 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881785,nsv881787 M 6533 0 2 GUSBP9,SERF1A,SERF1B,SMA4 IS34363,IS41739 nsv881786 5 69061359 69183643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537588,nssv1543219 M 6533 2 0 SMA4 MS13253,MS16107 nsv830334 5 69070334 69258800 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444625,nssv1444627,nssv1444608,nssv1444624,nssv1444605,nssv1444626,nssv1444603,nssv1444604,nssv1444598,nssv1444607,nssv1444601,nssv1444589,nssv1444612,nssv1444616,nssv1444611,nssv1444609,nssv1444610,nssv1444623,nssv1444588,nssv1444614,nssv1444615,nssv1444613,nssv1444587,nssv1444622,nssv1444602,nssv1444590,nssv1444592,nssv1444600,nssv1444593,nssv1444618,nssv1444591,nssv1444594,nssv1444596,nssv1444621,nssv1444599,nssv1444597,nssv1444619,nssv1444620 M 95 38 0 GUSBP9,SMA4 nsv510915 5 69092288 69126225 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621581 S 4 0 0 SMA4 NA15510 dgv6090n71 5 69099351 69570933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881796,nsv881788,nsv881789 M 6533 0 3 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS39650,SP54812,SP57665 essv8115 5 69109876 69264678 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GUSBP9,SMA4 NA19206 dgv1804e1 5 69109876 69679055 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5996,essv4262,essv13895 M 271 0 0 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 NA18571,NA18603,NA18854 dgv1805e1 5 69109876 70425468 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5227,essv673,essv22431,essv2274,essv18163,essv20274,essv21066,essv46,essv14861,essv24001,essv22080,essv23652,essv1260,essv20784,essv22483,essv23257,essv21815,essv23595,essv7765,essv22470,essv19619,essv23394,essv7074,essv19773,essv12162,essv22936,essv18392,essv9098,essv5315,essv15603,essv20052,essv16996,essv7216,essv1761,essv4354,essv1483,essv20168,essv23185,essv4823,essv18662,essv2865,essv11216,essv17604,essv6993,essv21800,essv16712,essv4024,essv21224,essv19385,essv23813,essv4979,essv19675,essv17660,essv24500,essv10634,essv23033,essv13589,essv19957,essv18860,essv17045,essv18136,essv9809,essv19096,essv19543,essv10827,essv18337,essv16799,essv20352,essv17721,essv4621,essv1607,essv14782,essv1434,essv21729,essv11007,essv24150,essv2015,essv19173,essv4010,essv154,essv20580,essv7398,essv15750,essv17271,essv15455,essv4551,essv5930,essv351,essv24477 M 271 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA06991,NA07029,NA07048,NA07055,NA07056,NA07357,NA10835,NA10847,NA10854,NA10861,NA10863,NA11830,NA11832,NA11839,NA11840,NA11881,NA11882,NA11993,NA11994,NA12006,NA12056,NA12057,NA12144,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12716,NA12751,NA12753,NA12761,NA12763,NA12802,NA12812,NA12813,NA12864,NA12865,NA12872,NA18503,NA18505,NA18522,NA18524,NA18537,NA18540,NA18542,NA18547,NA18550,NA18563,NA18573,NA18594,NA18611,NA18612,NA18623,NA18635,NA18637,NA18855,NA18863,NA18871,NA18872,NA18942,NA18944,NA18949,NA18953,NA18966,NA18968,NA18970,NA18971,NA18975,NA18980,NA18991,NA18995,NA18997,NA19101,NA19127,NA19131,NA19132,NA19137,NA19142,NA19143,NA19144,NA19159,NA19172,NA19204 dgv1806e1 5 69109876 70831640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2830,essv2572,essv6652,essv21267,essv22107,essv19004,essv24056,essv22231,essv24764,essv16491,essv14587,essv11969,essv13097,essv24407,essv279,essv24977,essv16073,essv15308,essv24857,essv21557,essv2338,essv18714,essv9180,essv21322,essv233,essv15033,essv20660,essv10389,essv2182,essv22586,essv17492,essv10811,essv10480,essv17457,esv373 M 271 0 0 BDP1,GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,LOC647859,NAIP,PMCHL2,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA07000,NA07348,NA10839,NA10855,NA10857,NA10859,NA10860,NA12005,NA12043,NA12044,NA12707,NA12762,NA12873,NA12874,NA12878,NA12892,NA18501,NA18515,NA18517,NA18523,NA18608,NA18852,NA18862,NA18940,NA18948,NA18960,NA18978,NA18987,NA18990,NA19093,NA19128,NA19129,NA19210,NA19222 nsv881790 5 69114384 69190743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537771 S 6533 0 1 SMA4 MS13360 nsv881791 5 69118987 69221673 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522861,nssv1551583,nssv1563957 M 6533 1 2 GUSBP9,SMA4 IS30138,MS18946,SP53474 nsv881792 5 69122637 69221673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549509 S 6533 1 0 GUSBP9,SMA4 MS18255 dgv6091n71 5 69122637 69440843 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881798,nsv881794,nsv881799,nsv881795,nsv881793,nsv881803,nsv881802,nsv881800 M 6533 0 10 GUSBP9,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS35498,IS38137,IS41982,MS11002,MS11338,MS15286,MS16531,MS20229,SP56539,SP57147 nsv469703 5 69126940 69247905 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649636 M 265 6 1 Samples from several populations that are part of the HapMap project. GUSBP9,SMA4 dgv6092n71 5 69159243 69522322 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881797,nsv881801 M 6533 3 0 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS14601,MS22787,SP52751 nsv509067 5 69226986 69226986 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620822 S 4 1 0 GUSBP9,SMA4 NA15510 dgv6093n71 5 69233077 69542963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881804,nsv881833,nsv881809,nsv881813 M 6533 0 4 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS32633,MS10574,MS13629,SP50615 nsv508367 5 69239253 70010329 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618773,nssv622525,nssv618770,nssv619959 M 4 0 3 GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA10860,NA15510,NA18994 dgv6094n71 5 69247965 69476562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881805,nsv881807,nsv881819,nsv881811,nsv881806,nsv881808,nsv881812,nsv881832 M 6533 0 9 LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS31211,IS34378,IS39996,MS10351,MS12608,MS13129,MS13561,MS19437,SP53883 dgv6095n71 5 69247965 69742899 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881873,nsv881810,nsv881820 M 6533 3 0 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS17536,SP54593,SP81074 nsv881814 5 69263068 69345138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551456 S 6533 0 1 SMA4 MS18894 dgv6096n71 5 69263068 69440843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881827,nsv881830,nsv881829,nsv881822,nsv881815,nsv881821 M 6533 8 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS33240,MS23889,MS24808,MS25121,SP51353,SP52328,SP54275,SP55131 dgv6097n71 5 69263068 69455867 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881828,nsv881831,nsv881817,nsv881816,nsv881818 M 6533 6 25 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30193,IS31137,IS36141,IS36424,IS37326,IS37628,IS38055,IS38129,MS10735,MS10951,MS12718,MS16902,MS17691,MS17739,MS17806,MS19303,MS20710,MS21814,MS21820,MS23579,MS24260,MS24792,SP50559,SP52904,SP53449,SP56096,SP56995,SP57008,SP57329,SP80930,SP81024 dgv6098n71 5 69278894 69455867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881825,nsv881842,nsv881826,nsv881845,nsv881846,nsv881823,nsv881844,nsv881841,nsv881843 M 6533 0 23 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS31169,IS32992,IS33491,IS34497,IS36519,IS37415,IS37480,IS38472,IS38637,IS41204,MS11733,MS12071,MS12913,MS15704,MS18376,MS24487,MS24692,MS25304,SP50900,SP52187,SP52729,SP56022,SP81352 nsv511274 5 69279795 69386806 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624944 S 1 1 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 1 dgv6099n71 5 69280018 69390807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881824,nsv881836,nsv881835,nsv881839,nsv881838,nsv881840,nsv881837 M 6533 0 7 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30331,IS38487,IS41901,MS10843,MS14450,MS15940,MS19011 dgv6100n71 5 69280018 69542963 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881834,nsv881854 M 6533 2 0 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 SP54402,SP56418 dgv6101n71 5 69290057 69542963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881865,nsv881847 M 6533 0 3 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS18978,MS21252,MS22952 dgv6102n71 5 69290057 69733571 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881848,nsv881867,nsv881866 M 6533 0 3 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS31285,MS10126,MS22854 dgv6103n71 5 69305468 69439738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881875,nsv881850,nsv881861,nsv881859,nsv881849,nsv881858,nsv881857,nsv881876,nsv881869,nsv881851 M 6533 0 39 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30923,IS31763,IS32808,IS33150,IS35299,IS35803,IS37040,IS38108,IS38465,IS39341,IS40072,IS41783,MS10381,MS12055,MS12863,MS15303,MS15545,MS16918,MS19397,MS19420,MS19637,MS20690,MS22999,MS23916,MS24423,MS24738,MS24940,MS24968,MS24995,MS25966,SP50182,SP50644,SP51388,SP54434,SP55386,SP57507,SP57574,SP81143,SP81152 dgv6104n71 5 69305468 69455867 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881871,nsv881852,nsv881860,nsv881870,nsv881872,nsv881853,nsv881862 M 6533 16 61 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30969,IS31183,IS31294,IS32680,IS33553,IS34549,IS35571,IS38603,IS38649,IS39088,IS39400,IS39991,IS40416,IS40558,IS41331,MS10104,MS10820,MS11084,MS12018,MS13281,MS13436,MS13721,MS14111,MS14437,MS14837,MS15600,MS15610,MS17091,MS17112,MS17310,MS17773,MS17788,MS18003,MS21071,MS22343,MS24266,MS24497,MS25058,MS25338,MS26118,SP50059,SP50569,SP50774,SP50984,SP51014,SP51218,SP51250,SP51265,SP52612,SP52676,SP54134,SP54693,SP54802,SP54822,SP54916,SP55027,SP55086,SP55660,SP55797,SP56114,SP56185,SP56223,SP56708,SP57078,SP57140,SP57158,SP57430,SP57651,SP57706,SP58505,SP81019,SP81109,SP81188,SP81260,SP81387,SP81475,SP81505 nsv830335 5 69310928 69461835 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444630,nssv1444633,nssv1444635,nssv1444632,nssv1444631,nssv1444634 M 95 6 0 LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 nsv881855 5 69315833 69381330 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551180,nssv1532763,nssv1568938,nssv1573352 M 6533 2 2 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS31373,IS33304,MS10837,MS18821 dgv6105n71 5 69315833 69415670 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881868,nsv881856 M 6533 2 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 MS15220,SP50916 dgv6106n71 5 69315833 69476562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881882,nsv881864,nsv881863,nsv881877,nsv881889 M 6533 0 6 LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30835,IS35516,MS15658,MS16591,MS19955,SP53068 dgv6107n71 5 69326897 69455867 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881881,nsv881886,nsv881887,nsv881885,nsv881888,nsv881874 M 6533 12 42 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS32777,IS34443,IS35484,IS35554,IS35691,IS36825,IS37068,IS37498,IS37550,IS38444,IS38535,IS40373,IS40440,IS40573,MS12039,MS12837,MS13099,MS13762,MS15502,MS17580,MS19677,MS20784,MS21017,MS21340,MS22268,MS23184,MS23714,MS24077,MS25648,SP50017,SP50058,SP50084,SP50914,SP51035,SP51108,SP51389,SP51480,SP52390,SP52588,SP52688,SP53324,SP53859,SP54442,SP54913,SP55911,SP56041,SP56927,SP57453,SP57734,SP81131,SP81243,SP81266,SP81513,SP81543 nsv881878 5 69331520 69381330 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589891 S 6533 1 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS38425 dgv6108n71 5 69331520 69428601 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881879,nsv881884,nsv881880 M 6533 0 5 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS39528,MS15150,SP55021,SP55353,SP81275 esv32787 5 69341948 70622744 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101483,essv101209,essv100922,essv98254,essv94658,essv94393,essv95615,essv95414,essv93148,essv97447,essv101648,essv101774,essv95898,essv98946,essv92737,essv96122,essv96123,essv96728,essv93566,essv92609,essv98076,essv100476,essv100363,essv96289 M 51 18 6 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 21603,21618,21693,21772,21791,21808,21841,21847,21863,21879,21909,21911,21938,21944,22007,22011,22128,22233,22259,22298,22300,22371 nsv881883 5 69345138 69409672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572588 S 6533 1 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS33148 nsv881890 5 69345138 69506345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524254 S 6533 0 1 LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 SP54941 nsv514310 5 69351840 69379416 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627755 S 1414 1 0 SERF1A,SERF1B,SMA4 nsv471547 5 69356690 69440000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547971,nssv547970 M 3 SERF1A,SERF1B,SMA4,SMN1,SMN2 dgv6109n71 5 69359352 69409672 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881891,nsv881895 M 6533 0 2 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS31651,IS33545 nsv881892 5 69359352 69436209 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598529,nssv1521583,nssv1529164,nssv1531820,nssv1546280,nssv1575805,nssv1573360,nssv1507909 M 6533 3 5 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS33330,IS33811,IS40819,MS10666,MS17121,SP52448,SP54682,SP81464 dgv6110n71 5 69359352 69440843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881893,nsv881896 M 6533 2 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 IS35140,MS14512 nsv881894 5 69359352 69455867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538276 S 6533 0 1 SERF1A,SERF1B,SMA4,SMN1,SMN2 MS13567 dgv6111n71 5 69364397 69439738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881897,nsv881900,nsv881898 M 6533 0 5 SERF1A,SERF1B,SMA4,SMN1,SMN2 MS14855,MS15686,MS19808,MS22252,MS22421 nsv881899 5 69372217 69542963 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499246 S 6533 1 0 GUSBP9,LOC100170939,SERF1A,SERF1B,SMA4,SMN1,SMN2 SP50134 nsv511104 5 69372868 69416076 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622368 S 4 0 0 SERF1A,SERF1B,SMA4,SMN1,SMN2 NA10860 nsv514311 5 69381072 69410328 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627756 S 1414 0 0 SMA4,SMN1,SMN2 nsv881901 5 69390807 69436209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564185,nssv1521866,nssv1545165 M 6533 0 3 SMA4,SMN1,SMN2 IS30178,MS16707,SP52621 nsv881902 5 69390807 69439738 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551457,nssv1539985 M 6533 1 1 SMA4,SMN1,SMN2 MS14637,MS18894 nsv881903 5 69390807 69440843 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594716 S 6533 1 0 SMA4,SMN1,SMN2 IS40003 nsv511308 5 69430212 69502723 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625321 S 1 1 0 LOC100170939,SMA4 1 nsv881904 5 69436209 69566693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554128 S 6533 0 1 GUSBP9,LOC100170939,SMA4 MS20627 nsv471489 5 69440001 70231831 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547815,nssv547814,nssv547813 M 3 GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,SMA4,SMA5 nsv511105 5 69452562 69560096 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621582,nssv622369 M 4 0 0 GUSBP9,LOC100170939,SMA4 NA10860,NA15510 dgv6112n71 5 69459806 69742483 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881909,nsv881905 M 6533 0 2 GUSBP9,LOC100170939,SMA4 MS11002,MS15286 nsv881906 5 69459806 69742483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539925 S 6533 1 0 GUSBP9,LOC100170939,SMA4 MS14601 nsv881907 5 69459806 70054944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590468 S 6533 1 0 GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,SMA4,SMA5 IS38515 dgv1807e1 5 69475945 70425468 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3237,essv796,essv589,essv5812,essv1412,essv4435,essv6731,essv3557,essv18449,essv4769,essv16312,essv6309,essv23504,essv12728,essv7798,essv6871,essv1941,essv11957,essv4716 M 271 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC100170939,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA07034,NA11831,NA18502,NA18552,NA18558,NA18562,NA18566,NA18605,NA18609,NA18620,NA18622,NA18914,NA18956,NA18959,NA18965,NA18974,NA18998,NA19007,NA19193 dgv6113n71 5 69506345 69606832 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881910,nsv881908 M 6533 0 2 GUSBP9,LOC100170939,SMA4 IS38137,SP50709 nsv433372 5 69522322 69724106 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463253 S 9 1 0 Samples from several populations that are part of the HapMap project. GUSBP9,LOC100170939,SMA4 NA12878 nsv881911 5 69523668 69670671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533680 S 6533 0 1 GUSBP9,LOC100170939,SMA4 MS11271 dgv6114n71 5 69551282 69743570 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881915,nsv881913,nsv881914,nsv881912 M 6533 0 6 GUSBP9,LOC100170939,SMA4 IS30054,IS30307,IS31294,IS34789,IS39650,MS18979 nsv515024 5 69551312 69589320 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627026 S 1414 0 0 GUSBP9,LOC100170939,SMA4 nsv881916 5 69573604 69865823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522155 S 6533 1 0 GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,SMA4,SMA5 SP52751 nsv511294 5 69581009 69739916 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625166 S 1 1 0 GUSBP9,SMA4 1 dgv6115n71 5 69590946 69809114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881917,nsv881926 M 6533 0 2 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS37044,SP51480 dgv6116n71 5 69607276 69742899 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881918,nsv881921,nsv881922,nsv881919 M 6533 7 8 SMA4 IS36424,IS37986,IS38490,IS41739,MS10400,MS10758,MS12071,MS14526,MS19677,MS19843,MS24266,SP52130,SP53491,SP56418,SP57665 dgv6117n71 5 69607276 69743951 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881931,nsv881930,nsv881920,nsv881923,nsv881928,nsv881929 M 6533 0 11 SMA4 IS34378,IS38198,IS39625,IS41791,IS41842,MS12771,MS13169,MS13800,MS13867,MS17537,MS18933 nsv881924 5 69607276 69773055 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535719,nssv1531821,nssv1544725 M 6533 2 1 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 MS10666,MS12432,MS16455 dgv6118n71 5 69607276 69788867 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881932,nsv881933,nsv881925 M 6533 4 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS40373,MS13383,MS17067,SP55131 dgv6119n71 5 69629469 69742483 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881927,nsv881934 M 6533 2 3 SMA4 IS30193,IS30826,IS31137,IS37628,SP55064 dgv6120n71 5 69651103 69751404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881942,nsv881941,nsv881938,nsv881935 M 6533 6 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS31259,IS36312,IS40812,MS15342,SP51368,SP58299 dgv6121n71 5 69651103 69788867 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881936,nsv881943,nsv881937 M 6533 6 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS30300,IS33304,IS39426,MS13253,MS16107,MS18255 dgv6122n71 5 69670671 69743570 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881939,nsv881940 M 6533 0 3 SMA4 IS36689,MS16531,MS17485 dgv6123n71 5 69685334 69791981 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881944,nsv881962,nsv881961,nsv881951,nsv881957,nsv881971,nsv881970,nsv881953 M 6533 46 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS30284,IS30837,IS31172,IS31825,IS33361,IS35129,IS35277,IS35538,IS36287,IS36667,IS37207,IS37963,IS38099,IS38334,IS38554,IS38652,IS39525,IS40503,IS40573,IS41483,MS10638,MS11021,MS11444,MS14019,MS14728,MS15679,MS15826,MS17097,MS17158,MS17371,MS17492,MS17779,MS18387,MS18451,MS18966,MS19437,MS20640,MS24077,MS25181,MS25801,MS26110,SP51376,SP54543,SP55346,SP57534,SP58310 dgv6124n71 5 69692210 69751404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881948,nsv881947,nsv881946,nsv881955,nsv881958,nsv881945 M 6533 14 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS30435,IS32664,IS34025,IS36893,IS38444,IS39931,IS40818,IS41868,MS15014,MS15984,MS17964,MS20200,SP50644,SP81030 nsv881949 5 69692210 69756761 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554012 S 6533 1 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 MS20520 dgv6125n71 5 69692210 69782071 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881950,nsv881952,nsv881956 M 6533 7 3 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS30082,IS30178,IS34352,IS36728,MS16852,MS17489,MS18005,SP52160,SP52308,SP56505 dgv6126n71 5 69692210 69809114 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv881954,nsv881963 M 6533 3 3 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS30302,IS39348,MS19277,MS25216,SP52633,SP54220 dgv6127n71 5 69706422 69773055 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881960,nsv881959,nsv881968,nsv881969 M 6533 8 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS33772,MS15771,MS16070,MS16416,MS24900,MS25939,SP57670,SP80930 dgv6128n71 5 69713288 69751404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881964,nsv881967,nsv881966,nsv881965 M 6533 4 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS33788,IS34124,IS34714,IS38658 dgv6129n71 5 69713288 69816012 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881972,nsv881980,nsv881975 M 6533 0 4 GTF2H2B,GTF2H2C,GTF2H2D,SMA4,SMA5 IS37043,SP50973,SP52161,SP53068 nsv511106 5 69716528 70328006 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622370,nssv624297 M 4 0 0 GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA10860,NA18994 nsv819686 5 69724106 69741583 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418869 S 2 0 1 SMA4 AK1 dgv6130n71 5 69724106 69788867 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv881979,nsv881978,nsv881973 M 6533 6 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS32819,IS34742,IS37415,IS39321,MS17970,SP51025 nsv881974 5 69724106 69809114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566567 S 6533 1 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 IS30781 nsv881976 5 69733571 69745530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536854 S 6533 1 0 SMA4 MS12986 nsv881977 5 69733571 69768625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556491,nssv1529612 M 6533 0 2 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 MS10074,MS22089 esv999813 5 69741342 69803359 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586483 S 3 1 0 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 HuRef nsv881981 5 69744370 69773055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526060 S 6533 0 1 GTF2H2B,GTF2H2C,GTF2H2D,SMA4 SP56986 nsv7371 5 69770285 70439401 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2525,nssv476 M 9 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 NA18555,NA19240 nsv881982 5 69813566 69876032 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534626 S 6533 1 0 GUSBP9,SMA4,SMA5 MS11694 nsv820942 5 69865639 70110326 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420526 S 1 0 1 GUSBP9,SMA4,SMA5 NA10851 dgv6131n71 5 69865823 69980978 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881984,nsv881983 M 6533 0 2 GUSBP9,SMA4,SMA5 IS30331,MS11002 dgv6132n71 5 69865823 70341309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881985,nsv881992,nsv881990,nsv881996,nsv882001,nsv881999,nsv882002 M 6533 0 7 GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 IS38137,IS39650,MS13129,MS18979,MS22854,SP53491,SP54812 nsv881986 5 69865823 70685177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519536 S 6533 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMA5,SMN1,SMN2 SP81074 nsv511297 5 69870806 70107260 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625199 S 1 1 0 GUSBP9,SMA4,SMA5 1 nsv830336 5 69893666 70137556 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444678,nssv1444666,nssv1444647,nssv1444663,nssv1444671,nssv1444655,nssv1444646,nssv1444664,nssv1444665,nssv1444645,nssv1444648,nssv1444667,nssv1444652,nssv1444670,nssv1444650,nssv1444668,nssv1444649,nssv1444669,nssv1444677,nssv1444654,nssv1444672,nssv1444675,nssv1444653,nssv1444676,nssv1444644,nssv1444679,nssv1444683,nssv1444636,nssv1444674,nssv1444661,nssv1444660,nssv1444682,nssv1444656,nssv1444659,nssv1444658,nssv1444680,nssv1444657,nssv1444681,nssv1444643,nssv1444685,nssv1444638,nssv1444637,nssv1444686,nssv1444639,nssv1444642,nssv1444688,nssv1444687,nssv1444641 M 95 48 0 GUSBP9,SMA4,SMA5 dgv6133n71 5 69902168 70016617 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881987,nsv881991,nsv881988 M 6533 0 3 SMA4,SMA5 MS11336,MS18947,MS23886 nsv881989 5 69902168 70093265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599798 S 6533 0 1 GUSBP9,SMA4,SMA5 IS41791 nsv881993 5 69922377 70002621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509543 S 6533 1 0 "" SP54822 dgv6134n71 5 69922377 70065114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv881994,nsv881995,nsv881998 M 6533 0 3 SMA4 IS38465,IS41982,MS23650 dgv6135n71 5 69922377 70642262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882004,nsv881997,nsv882000 M 6533 0 3 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30742,IS41898,MS10758 nsv882003 5 69980978 70388759 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590918 S 6533 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS38603 nsv507260 5 69987474 69993474 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621797 S 4 1 0 "" NA10860 dgv6136n71 5 70022132 70533842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882005,nsv882008,nsv882022,nsv882024,nsv882023,nsv882029,nsv882040 M 6533 0 7 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30835,IS31294,MS10735,MS12071,MS20710,SP53068,SP57665 nsv830338 5 70031476 70199946 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444721,nssv1444698,nssv1444693,nssv1444692,nssv1444724,nssv1444691,nssv1444720,nssv1444719,nssv1444694,nssv1444697,nssv1444722,nssv1444723,nssv1444699,nssv1444705,nssv1444701,nssv1444700,nssv1444702,nssv1444703,nssv1444715,nssv1444725,nssv1444704,nssv1444709,nssv1444707,nssv1444690,nssv1444718,nssv1444708,nssv1444712,nssv1444710,nssv1444711,nssv1444713,nssv1444696,nssv1444689,nssv1444714,nssv1444716 M 95 34 0 GUSBP9,SMA4 nsv882006 5 70065114 70300876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539926 S 6533 1 0 GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS14601 dgv6137n71 5 70065114 70373564 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882021,nsv882012,nsv882028,nsv882009,nsv882013,nsv882018,nsv882019,nsv882010,nsv882007 M 6533 0 15 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS34497,IS41204,IS41331,MS10126,MS15600,MS15686,MS18894,MS18978,MS19637,MS24497,SP50615,SP54434,SP56539,SP80930,SP81352 dgv1808e1 5 70072978 70425468 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23327,essv3121 M 271 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 NA12750,NA18969 dgv6138n71 5 70098301 70245258 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882011,nsv882025 M 6533 0 2 GUSBP9,SERF1A,SERF1B,SMA4 IS34789,IS38294 nsv509068 5 70102868 70102868 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619416 S 4 1 0 GUSBP9,SMA4 NA10860 dgv6139n71 5 70108477 70351828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882039,nsv882015,nsv882026,nsv882016,nsv882036,nsv882030,nsv882035,nsv882038,nsv882027 M 6533 0 20 GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS30193,IS31763,IS32808,IS34378,IS35691,IS37415,IS38055,IS38129,IS38649,IS39088,MS10104,MS10951,MS11338,MS14111,MS14837,MS20229,MS20690,MS24738,MS25304,SP57008 dgv6140n71 5 70108477 70351828 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882037,nsv882014,nsv882020,nsv882017,nsv882031 M 6533 6 12 GUSBP9,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS33240,IS40558,IS41783,MS10574,MS12608,MS12718,MS15303,MS15704,MS17773,MS17806,MS23579,SP50559,SP51353,SP52187,SP53883,SP56995,SP57329,SP81543 nsv509070 5 70114319 70114319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620823 S 4 1 0 GUSBP9,SMA4 NA15510 dgv6141n71 5 70132660 70388759 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882032,nsv882045 M 6533 3 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS36424,SP53449,SP56418 dgv6142n71 5 70132660 70533842 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882033,nsv882101,nsv882074,nsv882072 M 6533 4 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS34549,SP54916,SP55131,SP57651 nsv882034 5 70132660 70642262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555268 S 6533 0 1 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS21252 dgv6143n71 5 70145118 70533842 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882100,nsv882041 M 6533 3 2 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS15286,MS22343,SP52751,SP54593,SP81266 dgv6144n71 5 70169282 70311476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882043,nsv882046,nsv882050,nsv882049,nsv882048,nsv882061,nsv882042 M 6533 0 26 NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS31211,IS33150,IS35299,IS37326,IS37628,IS38108,IS38465,IS39341,MS10381,MS11084,MS15571,MS16591,MS17112,MS17739,MS18376,MS18947,MS22952,MS22999,MS23916,MS24423,MS24940,MS25058,MS25966,MS26118,SP51108,SP54134 dgv6145n71 5 70169282 70351828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882047,nsv882052,nsv882044,nsv882054,nsv882051,nsv882062 M 6533 0 12 NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS32680,IS32992,IS36519,IS39996,MS13281,MS21017,MS24692,MS24792,SP50059,SP50900,SP53324,SP81464 dgv6146n71 5 70183438 70341309 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882068,nsv882053 M 6533 2 8 NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 MS17091,MS20784,MS21071,MS24968,MS25728,SP50916,SP55386,SP56096,SP57430,SP57507 dgv6147n71 5 70183438 70434279 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882056,nsv882071,nsv882082 M 6533 3 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS39991,MS12398,SP52633 dgv6148n71 5 70183438 70451560 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882057,nsv882055 M 6533 0 2 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS32633,MS15658 dgv6149n71 5 70183438 70520952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882099,nsv882059,nsv882058,nsv882073,nsv882063 M 6533 0 5 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SERF1A,SERF1B,SMA4,SMN1,SMN2 IS35498,MS13629,MS21820,SP54941,SP81109 dgv6150n71 5 70193593 70311476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882076,nsv882060,nsv882075,nsv882066,nsv882065,nsv882079 M 6533 0 10 NAIP,SERF1A,SERF1B,SMN1,SMN2 IS40072,MS13436,MS14296,SP50774,SP51250,SP52676,SP54802,SP57140,SP57574,SP57734 nsv882064 5 70202676 70300876 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528136,nssv1548066,nssv1521047,nssv1519830,nssv1511354,nssv1524203,nssv1542043,nssv1528474,nssv1571684,nssv1535178,nssv1524888,nssv1529208,nssv1593841,nssv1528513,nssv1536626,nssv1596148,nssv1545682,nssv1501231,nssv1514572,nssv1585494,nssv1526675,nssv1525569,nssv1562569,nssv1559105,nssv1582167,nssv1500410,nssv1504266,nssv1529340 M 6533 1 27 NAIP,SERF1A,SERF1B,SMN1,SMN2 IS32777,IS35803,IS37480,IS39528,IS40416,MS12055,MS12863,MS15610,MS16902,MS17691,MS23714,MS25648,SP50058,SP50569,SP51014,SP51389,SP52390,SP54913,SP55021,SP55353,SP56022,SP56708,SP57706,SP81143,SP81243,SP81260,SP81475,SP81505 dgv6151n71 5 70202676 70351828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882077,nsv882089,nsv882067,nsv882081,nsv882069 M 6533 0 17 NAIP,SERF1A,SERF1B,SMN1,SMN2 IS40573,MS12018,MS16707,MS21340,MS22268,MS23184,SP50017,SP51480,SP52612,SP54409,SP54442,SP54682,SP54693,SP55660,SP55797,SP56114,SP81188 dgv6152n71 5 70202676 70391854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882095,nsv882070,nsv882093 M 6533 0 3 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP,SERF1A,SERF1B,SMN1,SMN2 IS35571,IS37498,MS16918 dgv6153n71 5 70210770 70373564 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882078,nsv882091,nsv882080,nsv882083 M 6533 4 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP,SERF1A,SERF1B,SMN1,SMN2 IS37068,MS17164,SP53320,SP81019 nsv830339 5 70220361 70423291 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444729,nssv1444727,nssv1444726,nssv1444731,nssv1444730,nssv1444732 M 95 6 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SERF1A,SERF1B,SMN1,SMN2 esv2590135 5 70227017 70345828 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241580 S 1 1 0 NAIP,SERF1A,SERF1B,SMN1,SMN2 NA18507 dgv19n31 5 70231832 70316000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471509,nsv471546,nsv471545 M 3 NAIP,SERF1A,SERF1B,SMN1,SMN2 nsv471432 5 70232246 70250112 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548265,nssv548264 M 3 SERF1A,SERF1B nsv882084 5 70232726 70300876 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552392,nssv1593314,nssv1539673,nssv1523911,nssv1590215,nssv1570336,nssv1556888,nssv1536690,nssv1521280,nssv1538277,nssv1538385,nssv1566883,nssv1568434,nssv1521038,nssv1587478,nssv1535139,nssv1580830,nssv1564186,nssv1552447,nssv1524535,nssv1528582,nssv1520009,nssv1528185,nssv1561433,nssv1577447 M 6533 4 21 NAIP,SERF1A,SERF1B,SMN1,SMN2 IS30178,IS30969,IS31285,IS31904,IS34443,IS35484,IS38057,IS38472,IS39400,MS12039,MS12913,MS13567,MS13721,MS14437,MS19397,MS19437,MS22252,MS24995,SP50644,SP51388,SP52328,SP54275,SP55086,SP81152,SP81275 dgv6154n71 5 70232726 70311476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882087,nsv882086,nsv882085 M 6533 0 11 NAIP,SERF1A,SERF1B,SMN1,SMN2 IS36141,MS14855,SP50182,SP51265,SP52729,SP52904,SP55027,SP57078,SP81024,SP81131,SP81513 dgv6155n71 5 70232726 70351828 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882090,nsv882088,nsv882092 M 6533 5 19 NAIP,SERF1A,SERF1B,SMN1,SMN2 IS37550,IS40003,MS10351,MS11733,MS13099,MS13762,MS15545,MS19420,MS21390,MS24077,MS24808,MS25564,SP50084,SP51218,SP52448,SP52621,SP52868,SP53859,SP54822,SP55911,SP56041,SP56185,SP56223,SP56927 dgv6156n71 5 70232726 70388759 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882094,nsv882105 M 6533 2 2 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP,SERF1A,SERF1B,SMN1,SMN2 IS31183,IS38235,MS17310,MS18620 dgv6157n71 5 70232726 70434279 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882097,nsv882098,nsv882096 M 6533 5 4 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SERF1A,SERF1B,SMN1,SMN2 IS31137,IS33330,IS33665,IS38535,MS15502,MS19677,MS19808,MS24266,SP58505 dgv1809e1 5 70234598 70425468 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24227,essv13686,essv8598,essv9432,essv8468,essv8102,essv3347,essv10103,essv12670,essv24687,essv13788,essv22298,essv5552,essv11646,essv6265,essv20907,essv17022,essv9362,essv10202,essv13030,essv9105,essv23933,essv15020,essv17140,essv21998,essv10589,essv14486,essv9696,essv12780,essv21393,essv22847,essv21437,essv14445,essv13568,essv11756 M 271 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SERF1A,SERF1B,SMN1,SMN2 NA06985,NA10856,NA11829,NA11995,NA12004,NA12717,NA12740,NA12801,NA12814,NA18500,NA18504,NA18516,NA18529,NA18636,NA18853,NA18859,NA18860,NA18870,NA18913,NA18945,NA19119,NA19120,NA19130,NA19144,NA19152,NA19153,NA19154,NA19160,NA19171,NA19201,NA19202,NA19206,NA19208,NA19239,NA19240 dgv1810e1 5 70234598 70831640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13848,essv12592,essv15273 M 271 0 0 BDP1,GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,PMCHL2,SERF1A,SERF1B,SMN1,SMN2 NA18854,NA19094,NA19098 nsv507261 5 70251963 70257963 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620302,nssv621798 M 4 2 0 SMN1,SMN2 NA10860,NA15510 nsv471433 5 70256524 70284592 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548266 S 3 SMN1,SMN2 nsv511305 5 70256729 70279507 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625288 S 1 1 0 SMN1,SMN2 1 dgv6158n71 5 70261872 70341309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882103,nsv882102 M 6533 0 2 NAIP,SMN1,SMN2 IS40440,SP52588 nsv882104 5 70261872 70351828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528889 S 6533 1 0 NAIP,SMN1,SMN2 SP81387 dgv6159n71 5 70261872 70451560 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882106,nsv882113,nsv882108,nsv882107,nsv882109 M 6533 10 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SMN1,SMN2 IS30340,IS35277,IS35538,IS38067,IS38099,IS41868,SP54226,SP55346,SP56658,SP56734 dgv6160n71 5 70261872 70507387 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882120,nsv882111,nsv882110 M 6533 4 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SMN1,SMN2 IS35140,IS38567,IS41041,MS17536 nsv882112 5 70275816 70391854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581273 S 6533 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP,SMN1,SMN2 IS35554 nsv882114 5 70277694 70351828 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539179,nssv1507301 M 6533 1 1 NAIP,SMN1,SMN2 MS14250,SP54517 nsv882115 5 70277694 70388759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527615 S 6533 0 1 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP,SMN1,SMN2 SP58575 dgv6161n71 5 70277694 70451560 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882122,nsv882130,nsv882132,nsv882116,nsv882117,nsv882131 M 6533 63 27 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP,SMN1,SMN2 IS30284,IS30300,IS31812,IS32329,IS32817,IS32819,IS32888,IS33304,IS33475,IS33811,IS34352,IS34472,IS34531,IS34700,IS34760,IS34908,IS35027,IS35141,IS35439,IS35445,IS35624,IS35640,IS36667,IS37415,IS37458,IS37543,IS37789,IS37963,IS38115,IS38330,IS38334,IS38496,IS38652,IS38658,IS38665,IS38804,IS38849,IS39348,IS39532,IS39716,IS40063,IS40361,IS40373,IS40490,IS40573,IS40703,IS40739,IS40769,IS41284,IS41314,IS41483,IS41703,IS41819,MS11054,MS11058,MS11312,MS11558,MS12724,MS12968,MS13160,MS13281,MS13359,MS13426,MS16095,MS16126,MS16573,MS16707,MS16708,MS17485,MS17492,MS17970,MS18722,MS18847,MS19277,MS20717,MS21738,MS22089,MS22678,MS22764,MS25792,MS25870,SP53518,SP54078,SP54112,SP54857,SP55302,SP55637,SP56875,SP58310,SP81158 nsv511285 5 70283421 70288130 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625066 S 1 1 0 SMN1,SMN2 1 nsv882118 5 70287457 70451560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596842 S 6533 0 1 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP IS40657 dgv6162n71 5 70287457 70520952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882119,nsv882134,nsv882133 M 6533 0 5 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP IS33846,MS14971,MS16531,MS19736,MS25831 nsv471434 5 70300066 70356697 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548269,nssv548270,nssv548268 M 3 NAIP dgv6163n71 5 70304036 70434279 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882121,nsv882123,nsv882124 M 6533 0 3 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP MS21558,SP50148,SP50973 dgv6164n71 5 70307261 70461842 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882126,nsv882125 M 6533 2 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP IS30478,SP56794 dgv27n14 5 70311476 70412247 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433229,nsv433230 M 9 0 2 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP NA18555,NA18956 dgv6165n71 5 70311476 70434279 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882129,nsv882128,nsv882140,nsv882136,nsv882127 M 6533 39 19 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP IS30294,IS30302,IS30883,IS30925,IS31046,IS31553,IS32777,IS33136,IS33948,IS34025,IS34458,IS34659,IS35131,IS35972,IS36458,IS36777,IS38108,IS38611,IS39321,IS40925,MS10638,MS11057,MS11171,MS11854,MS12602,MS13716,MS15573,MS16315,MS17097,MS18531,MS18894,MS19843,MS21937,MS22013,MS22854,MS23550,MS24020,MS24337,MS24450,MS24839,MS25695,SP50942,SP51376,SP52161,SP52318,SP52454,SP52940,SP54621,SP55463,SP56012,SP56013,SP56505,SP56663,SP57322,SP57328,SP57580,SP57670,SP81407 nsv882135 5 70311476 70725208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579991 S 6533 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP,PMCHL2 IS35205 dgv6166n71 5 70327006 70533842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882144,nsv882141,nsv882142,nsv882148,nsv882143,nsv882145,nsv882137 M 6533 0 11 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP IS34346,IS35127,MS10843,MS11467,MS17130,MS18993,MS21709,MS21717,SP51480,SP53491,SP57507 nsv433373 5 70327006 70685177 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463254 S 9 1 0 Samples from several populations that are part of the HapMap project. GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP NA18517 dgv6167n71 5 70335524 70412247 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882139,nsv882138 M 6533 2 7 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP SP51025,SP51419,SP54750,SP55125,SP55843,SP56072,SP56834,SP57269,SP57299 esv1011240 5 70336591 70404763 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586726 S 3 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP HuRef nsv823094 5 70341080 70346246 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425975 S 31 0 1 NAIP NA18968 nsv823095 5 70341280 70346105 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424966 S 31 1 0 NAIP AK2 nsv823096 5 70341280 70346246 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432861,nssv1422598,nssv1440343 M 31 2 1 NAIP NA18552,NA18564,NA18972 nsv511290 5 70344243 70404328 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625121 S 1 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,NAIP 1 nsv515025 5 70364440 70394496 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627027 S 1414 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D dgv6168n71 5 70373564 70507387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882146,nsv882150 M 6533 0 2 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP IS39625,MS15545 dgv6169n71 5 70373564 70533842 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882152,nsv882147 M 6533 2 4 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP IS30221,IS33240,IS38137,MS10574,MS23767,SP56539 dgv6170n71 5 70373564 70700419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882156,nsv882149 M 6533 0 2 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,GUSBP9,LOC647859,NAIP IS39650,IS41982 nsv882151 5 70391854 70520952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509545 S 6533 1 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP SP54822 nsv511107 5 70394062 70452890 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621583,nssv622371 M 4 0 0 GTF2H2,GTF2H2B,GTF2H2C,GTF2H2D,LOC647859,NAIP NA10860,NA15510 dgv6171n71 5 70412247 70533842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882154,nsv882153,nsv882155 M 6533 0 6 GUSBP9,LOC647859,NAIP MS12608,MS16902,MS17806,MS22854,SP50615,SP81352 nsv4870 5 70429750 70464265 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv477 S 9 1 0 NAIP NA19240 nsv511278 5 70431989 70507387 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624988 S 1 1 0 NAIP 1 dgv6172n71 5 70434279 70533842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882157,nsv882159,nsv882158 M 6533 0 3 GUSBP9,NAIP MS15704,MS18979,MS20229 nsv882160 5 70451672 70533842 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561959,nssv1526104,nssv1596550,nssv1597729,nssv1583341,nssv1551755 M 6533 2 4 GUSBP9,NAIP IS36424,IS40558,IS41204,MS18978,MS25304,SP57008 dgv6173n71 5 70461842 70533842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882162,nsv882161 M 6533 0 3 GUSBP9 IS39341,IS41783,MS15303 nsv4871 5 70540340 70550610 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10457 S 9 1 0 "" NA18956 dgv6174n71 5 70552557 70642262 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882164,nsv882163 M 6533 0 3 GUSBP9 IS30388,MS23079,SP57665 nsv882165 5 70552557 70655969 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590469,nssv1539865 M 6533 2 0 GUSBP9 IS38515,MS14526 dgv6175n71 5 70552557 70700419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882166,nsv882167 M 6533 0 2 GUSBP9 MS18979,SP53491 nsv509072 5 70560439 70560439 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623447 S 4 1 0 GUSBP9 NA18994 dgv6176n71 5 70577327 70702961 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882170,nsv882168,nsv882171 M 6533 0 3 GUSBP9 IS38637,MS11002,MS12644 dgv6177n71 5 70577327 70715382 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882169,nsv882172 M 6533 2 0 GUSBP9,PMCHL2 MS10106,MS18255 dgv6178n71 5 70603366 70725208 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882173,nsv882175 M 6533 0 2 PMCHL2 IS38294,MS16531 nsv882174 5 70612729 70715382 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587914,nssv1537590 M 6533 1 1 PMCHL2 IS38137,MS13253 nsv528571 5 70715382 70803025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705190 S 2026 0 1 BDP1,PMCHL2 nsv882176 5 70774006 70896421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570239 S 6533 0 1 BDP1 IS31837 nsv830340 5 70832869 71002866 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444734,nssv1444733,nssv1444735 M 95 0 3 BDP1,MCCC2 dgv6179n71 5 70836294 70892134 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882177,nsv882178,nsv882179 M 6533 0 3 BDP1 SP53041,SP55856,SP80913 esv1360871 5 70857201 70857250 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648793 S 2 0 1 BDP1 HuRef nsv328811 5 70964727 70971842 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347389 M 24 MCCC2 esv275325 5 71004037 71010229 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585590,essv2585752 M 1250 1 1 "" nsv4872 5 71043404 71076309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4844 S 9 1 0 CARTPT NA19129 nsv830341 5 71092861 71257178 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444736 S 95 1 0 "" esv2242147 5 71193253 71193703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732229 S 1 0 1 "" NA18507 esv1008961 5 71193435 71193500 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566801 S 3 0 1 "" HuRef nsv507262 5 71222175 71228175 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621799,nssv620303 M 4 2 0 "" NA10860,NA15510 esv269233 5 71448676 71449037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496880,essv2511840,essv2510536,essv2509735,essv2501169,essv2498352,essv2503286,essv2494519,essv2497152,essv2499950,essv2509971,essv2496121,essv2507539,essv2505275,essv2500903,essv2494029,essv2513480,essv2509270,essv2504885,essv2503554,essv2502425,essv2500568,essv2497434,essv2495928,essv2495178,essv2502682,essv2512770,essv2506655,essv2509498,essv2498657,essv2497675,essv2493897 M 157 32 0 Samples from several populations that are part of the HapMap project. MAP1B NA18498,NA18499,NA18501,NA18508,NA18516,NA18526,NA18542,NA18550,NA18552,NA18558,NA18593,NA18603,NA18638,NA18853,NA18856,NA18871,NA18907,NA18909,NA18942,NA18947,NA18948,NA18956,NA18959,NA18961,NA18964,NA18965,NA18980,NA19108,NA19129,NA19138,NA19147,NA19210 esv268202 5 71457450 71457551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509690,essv2509094,essv2501025,essv2505702,essv2509261,essv2507382,essv2495672,essv2504637,essv2509632,essv2497558 M 157 10 0 Samples from several populations that are part of the HapMap project. MAP1B NA18508,NA18522,NA18856,NA18861,NA18909,NA18912,NA18916,NA19099,NA19129,NA19147 nsv823097 5 71520062 71521221 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435857 S 31 1 0 MAP1B NA18566 esv1008339 5 71579580 71581107 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564094 S 3 1 0 MRPS27 HuRef nsv830342 5 71659612 71823446 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444737 S 95 1 0 PTCD2,ZNF366 esv270957 5 71671272 71671606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523378,essv2531911,essv2540034,essv2557112,essv2562797,essv2569504,essv2578854,essv2536939,essv2538981,essv2569641,essv2561386,essv2569117,essv2543622,essv2556134,essv2575669,essv2538836,essv2524183,essv2560814,essv2572631,essv2568731,essv2560486 M 157 21 0 Samples from several populations that are part of the HapMap project. PTCD2 NA12004,NA12006,NA18489,NA18501,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18523,NA18861,NA18870,NA18871,NA19099,NA19108,NA19129,NA19137,NA19143,NA19147,NA19190 nsv516808 5 71791858 71792426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676700,nssv656789,nssv672640,nssv690274,nssv673720,nssv687416,nssv674181,nssv671066,nssv658981,nssv676879,nssv678281 M 2026 0 11 ZNF366 nsv819823 5 71792664 71793000 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418759 S 2 1 0 ZNF366 AK1 nsv507263 5 71844331 71850331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620304,nssv622941,nssv621800 M 4 3 0 "" NA10860,NA15510,NA18994 dgv1811e1 5 71935078 72108737 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5257,esv188 M 271 0 0 "" NA18624 esv1456336 5 71952318 71952622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193220 S 2 0 1 "" HuRef nsv10708 5 71984707 71988204 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12700,nssv13866 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA12802 esv33537 5 72056932 72058963 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93364 S 51 1 0 "" 22170 nsv882180 5 72103102 72316160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568741 S 6533 0 1 FCHO2,MIR4804,TNPO1 IS31335 nsv525479 5 72152162 72421895 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701607 S 2026 0 1 FCHO2,MIR4804,TNPO1 nsv830343 5 72180747 72365812 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444738 S 95 0 1 FCHO2,MIR4804,TNPO1 dgv6180n71 5 72185951 72239855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882182,nsv882183,nsv882181 M 6533 0 4 MIR4804,TNPO1 SP50725,SP52835,SP55630,SP57379 dgv6181n71 5 72202239 72239855 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882184,nsv882185 M 6533 0 2 MIR4804,TNPO1 SP52117,SP53041 esv27712 5 72287675 72288919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18703 S 451 0 1 FCHO2 NA18511 esv267630 5 72368874 72368959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514524,essv2514819,essv2516102,essv2515813,essv2518899,essv2519491 M 157 6 0 Samples from several populations that are part of the HapMap project. FCHO2 NA07346,NA11840,NA12234,NA12873,NA18969,NA19239 esv274596 5 72368875 72369188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580494 S 7 1 0 Samples from several populations that are part of the HapMap project. FCHO2 NA12891 nsv830344 5 72456626 72632083 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444741,nssv1444742 M 95 1 1 TMEM171,TMEM174 nsv517209 5 72482521 72487477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675181,nssv683902,nssv670662,nssv654016 M 2026 0 4 "" nsv522532 5 72492177 72495882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705904 S 2026 0 1 "" nsv4873 5 72500462 72534148 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8112 S 9 1 0 TMEM174 NA12156 nsv830345 5 72529453 72725504 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444743,nssv1444744,nssv1444745 M 95 2 1 "" nsv882186 5 72614799 72741872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556741 S 6533 0 1 "" MS22146 nsv4874 5 72688280 72699190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8113 S 9 1 0 "" NA12156 dgv344n21 5 72695929 72696541 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521645,nsv527013 M 2026 0 2 "" dgv949n67 5 72732419 72799514 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823100,nsv823099 M 31 2 0 FOXD1 NA18968,NA18973 nsv4875 5 72768443 72813252 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8114 S 9 0 1 FOXD1 NA12156 nsv823101 5 72776264 72782270 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425753 S 31 1 0 FOXD1 AK4 esv27844 5 72778354 72780371 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19595 S 451 0 4 FOXD1 NA07037,NA07045,NA12414,NA18511 nsv830346 5 72834804 72974010 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444746 S 95 0 1 ANKRA2,BTF3,RGNEF,UTP15 nsv830347 5 72848908 73038205 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444747 S 95 1 0 ANKRA2,RGNEF,UTP15 nsv830349 5 73114845 73321102 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444748 S 95 1 0 RGNEF esv1000538 5 73138002 73138002 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581791 S 3 1 0 RGNEF HuRef esv1430068 5 73138180 73138180 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011236 S 2 1 0 RGNEF HuRef nsv882187 5 73151683 73194854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574785 S 6533 0 1 RGNEF IS33630 esv270360 5 73181649 73181988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522771,essv2556635,essv2545512,essv2570736,essv2521728,essv2550527,essv2578032,essv2537634,essv2528531,essv2557291,essv2532143,essv2562763,essv2550124,essv2527365,essv2561526,essv2552933,essv2549600,essv2559951,essv2567688,essv2553483,essv2541895,essv2543531,essv2562268,essv2530021,essv2531659,essv2573399,essv2526790,essv2529721,essv2526523,essv2574721,essv2530233,essv2572628,essv2568465,essv2560438,essv2571185,essv2574377,essv2554774 M 157 37 0 Samples from several populations that are part of the HapMap project. RGNEF NA07346,NA11931,NA11994,NA12003,NA12044,NA12144,NA12155,NA12761,NA12878,NA12891,NA18499,NA18505,NA18507,NA18511,NA18522,NA18523,NA18542,NA18564,NA18570,NA18577,NA18605,NA18856,NA18870,NA18909,NA18949,NA18961,NA18964,NA19005,NA19093,NA19114,NA19138,NA19141,NA19143,NA19147,NA19190,NA19238,NA19240 esv274527 5 73181653 73181977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584224,essv2583285 M 7 2 0 Samples from several populations that are part of the HapMap project. RGNEF NA19238,NA19240 nsv4876 5 73380154 73412701 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6005 S 9 1 0 "" NA12156 nsv507264 5 73433640 73439640 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621801 S 4 1 0 "" NA10860 esv1472881 5 73442756 73442898 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872264 S 2 0 1 "" HuRef dgv345n21 5 73523708 73541867 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516250,nsv524103 M 2026 0 3 "" nsv830350 5 73589696 73722751 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444749 S 95 1 0 "" esv26170 5 73605628 73606112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21124 S 451 0 1 "" NA19225 nsv509971 5 73637079 73643079 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618204,nssv622090,nssv621260 M 4 0 3 "" CHM,NA10860,NA15510 esv270020 5 73649398 73649784 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511169,essv2505534,essv2495318,essv2511755 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12154,NA12287,NA18499 nsv4878 5 73674345 73719008 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8115 S 9 0 1 "" NA12156 esv2557224 5 73683994 73685528 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329194 S 1 0 1 "" NA18507 esv2324679 5 73684562 73685278 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545534 S 1 0 1 "" NA18507 esv5430 5 73684698 73685124 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27871 S 1 0 1 Single Asian sample YH "" YH dgv146e180 5 73684741 73685076 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009566,esv994228 M 3 0 1 "" HuRef esv2629568 5 73684742 73685059 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336215 S 1 0 1 "" NA18507 dgv198n6 5 73684742 73685070 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv328018,nsv328271 M 24 "" esv1376226 5 73684752 73685070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826540 S 2 0 1 "" HuRef esv7382 5 73684758 73685067 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29823 S 1 0 1 "" SJK esv268024 5 73754777 73754869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576084,essv2571568,essv2548488,essv2534989,essv2559544,essv2554992,essv2524423,essv2536353,essv2548640 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11830,NA11840,NA12045,NA12249,NA12776,NA12872,NA18555 nsv830351 5 73817310 73968588 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444750 S 95 0 1 ENC1 nsv509972 5 73850413 73856413 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621261 S 4 0 1 "" NA15510 esv267649 5 73851278 73851504 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512535,essv2506423 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA19108 nsv882188 5 73867959 73942462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525163 S 6533 0 1 "" SP56339 esv268668 5 73948428 73948763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496322 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18510 nsv521024 5 74003720 74004814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680022,nssv682003,nssv692158 M 2026 0 3 "" esv21716 5 74015717 74029609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13844 S 451 0 1 HEXB NA12749 nsv518286 5 74204801 74278876 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695718 S 2026 1 0 "" nsv830352 5 74225251 74373700 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444753,nssv1444752,nssv1444754 M 95 3 0 GCNT4 esv2581222 5 74272674 74274214 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358521 S 1 0 1 "" NA18507 esv2008435 5 74272923 74273564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754966 S 1 0 1 "" NA18507 esv270673 5 74359520 74359883 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496828,essv2494324,essv2493316,essv2504182,essv2493815,essv2494826,essv2494862,essv2506186,essv2505343,essv2505976,essv2493944,essv2509356,essv2498785,essv2497571,essv2510404,essv2499669,essv2512010,essv2501991,essv2498008 M 157 19 0 Samples from several populations that are part of the HapMap project. GCNT4 NA18498,NA18502,NA18504,NA18505,NA18517,NA18519,NA18520,NA18523,NA18853,NA18861,NA18871,NA18909,NA19138,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240 esv272635 5 74359532 74359772 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581936,essv2582597,essv2584068,essv2583392 M 7 4 0 Samples from several populations that are part of the HapMap project. GCNT4 NA12878,NA12891,NA19238,NA19240 esv275446 5 74375330 74381125 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585747 S 1250 0 1 "" esv23779 5 74384405 74385325 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19960 S 451 0 2 "" NA12414,NA18511 nsv882189 5 74392613 74513834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552189 S 6533 0 1 ANKRD31 MS19277 nsv4879 5 74434520 74471282 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4845,nssv478,nssv2697 M 9 3 0 ANKRD31 NA18555,NA19129,NA19240 nsv509073 5 74450307 74460525 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620826 S 4 1 0 ANKRD31 NA15510 dgv1812e1 5 74469516 74647470 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11034,esv487 M 271 0 0 ANKRD31 NA19143 dgv6182n71 5 74498941 74590582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882191,nsv882190 M 6533 0 2 ANKRD31 IS33196,MS22854 nsv4880 5 74516469 74551695 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3359 S 9 1 0 ANKRD31 NA12878 nsv327808 5 74518731 74522189 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346386 M 24 ANKRD31 nsv882192 5 74677463 74743518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507192 S 6533 0 1 COL4A3BP,HMGCR SP54490 esv268588 5 74689699 74689978 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520812,essv2557520,essv2556984,essv2532400,essv2578747,essv2569809,essv2528168,essv2572733 M 157 8 0 Samples from several populations that are part of the HapMap project. HMGCR NA18498,NA18499,NA18501,NA18505,NA18510,NA18520,NA18907,NA19143 dgv6183n71 5 74691931 74982211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882195,nsv882197,nsv882194,nsv882196,nsv882193 M 6533 0 7 COL4A3BP,HMGCR,POLK IS31041,IS31179,IS31205,IS31563,IS35181,MS18847,MS23670 nsv329892 5 74725205 74727136 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348470 M 24 COL4A3BP esv2621701 5 74729777 74730986 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317791 S 1 0 1 COL4A3BP NA18507 dgv6184n71 5 74771821 74982211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882199,nsv882198 M 6533 0 2 COL4A3BP,POLK IS31142,IS33580 nsv882200 5 74817195 74866564 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503844 S 6533 0 1 COL4A3BP,POLK SP52117 nsv882201 5 74823066 74926374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507193 S 6533 0 1 COL4A3BP,POLK SP54490 nsv329298 5 74835412 74835412 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347876 M 24 COL4A3BP esv1293475 5 74835451 74835451 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623196 S 2 1 0 COL4A3BP HuRef esv1729448 5 74835474 74835474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956810 S 2 1 0 COL4A3BP HuRef nsv882202 5 74844173 74982211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569879 S 6533 0 1 POLK IS31729 nsv882203 5 74847253 74868675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512606 S 6533 0 1 POLK SP55565 dgv6185n71 5 74847253 74898677 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882205,nsv882204 M 6533 0 2 POLK SP50649,SP55847 nsv4881 5 74874534 74906777 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10458 S 9 1 0 POLK NA18956 nsv518475 5 74898797 75447560 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695911 S 2026 1 0 POC5,POLK,SV2C nsv522003 5 74983191 75024125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694772 S 2026 0 1 POC5 nsv830353 5 74997276 75188365 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444755 S 95 1 0 POC5 esv259502 5 75004298 75004635 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393666,essv2394318 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv260064 5 75004311 75004648 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400316,essv2400898,essv2398067,essv2400155,essv2395366,essv2395922,essv2400453,essv2394511 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11993,NA12144,NA18608,NA18916,NA19238,NA19240,NA19257 nsv819997 5 75063929 75065778 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419340 S 2 0 1 "" AK1 nsv830354 5 75109899 75295154 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444756 S 95 0 1 "" esv988051 5 75117965 75118680 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565620 S 3 0 1 "" HuRef esv4376 5 75117975 75118420 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26817 S 1 0 1 Single Asian sample YH "" YH esv1262374 5 75118058 75118367 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645539 S 2 0 1 "" HuRef nsv4882 5 75145861 75175990 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10459 S 9 1 0 "" NA18956 esv28222 5 75157726 75158574 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10779 S 451 0 1 "" NA12239 esv268360 5 75311034 75311388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514620,essv2518845,essv2515037,essv2515853,essv2517583,essv2513696 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA12045,NA12812,NA12873,NA12878 esv274260 5 75311034 75311388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581544 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv4883 5 75396682 75409719 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8116 S 9 0 1 "" NA12156 esv2588798 5 75425960 75427574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179670 S 1 0 1 SV2C NA18507 nsv526084 5 75446267 75566250 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702328 S 2026 1 0 SV2C essv21478 5 75462619 75485751 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SV2C NA10830 dgv1813e1 5 75462619 75510536 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22620,esv1127 M 271 0 0 SV2C NA12154 esv34707 5 75464771 75485900 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978708,essv6978709 M 771 1 0 SV2C NA12154 esv34958 5 75464771 75510677 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980388,essv6980387 M 771 1 0 SV2C NA10830 nsv818353 5 75467195 75485883 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415574,nssv1415575 M 112 2 0 SV2C NA10830,NA12154 nsv516875 5 75467195 75491007 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660741,nssv654615 M 2026 2 0 SV2C nsv327180 5 75471437 75471554 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345758 M 24 SV2C esv2487643 5 75496328 75496697 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229491 S 1 0 1 SV2C NA18507 esv1726251 5 75498123 75498123 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228550 S 2 1 0 SV2C HuRef nsv329230 5 75498189 75498189 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347808 M 24 SV2C esv989228 5 75501853 75506705 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565299 S 3 0 1 SV2C HuRef nsv513243 5 75501876 75505135 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626748 S 1 0 1 SV2C 1 nsv509074 5 75519314 75538493 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618040 S 4 1 0 SV2C CHM esv1004475 5 75520442 75523839 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564940 S 3 1 0 SV2C HuRef esv259949 5 75588640 75589109 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400185,essv2399023,essv2395843,essv2396261,essv2394461,essv2396280,essv2400353,essv2399888,essv2397433,essv2395348 M 144 0 0 Samples from several populations that are part of the HapMap project. SV2C NA07037,NA10851,NA11830,NA12006,NA12045,NA12716,NA18555,NA18561,NA18566,NA18916 dgv1814e1 5 75647353 75678730 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18776,esv1140 M 271 0 0 SV2C NA12891 nsv328635 5 75703536 75705126 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347213 M 24 "" nsv882206 5 75712414 75782569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594374 S 6533 0 1 IQGAP2 IS39817 nsv4884 5 75720343 75754094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8117 S 9 1 0 IQGAP2 NA12156 nsv4885 5 75858905 75860005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3360 S 9 1 0 IQGAP2 NA12878 esv270101 5 75895512 75895639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505932,essv2509571 M 157 2 0 Samples from several populations that are part of the HapMap project. IQGAP2 NA18861,NA19129 esv273773 5 75899376 75899552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580576,essv2579607 M 7 2 0 Samples from several populations that are part of the HapMap project. IQGAP2 NA19238,NA19240 esv267756 5 75910431 75910767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517044,essv2516415 M 157 2 0 Samples from several populations that are part of the HapMap project. IQGAP2 NA11931,NA12814 dgv6186n71 5 76032969 76070111 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882208,nsv882207,nsv882209 M 6533 13 0 F2R,IQGAP2,NCRUPAR MS11396,MS11919,MS12206,MS16493,MS16611,MS16932,MS17691,MS17842,MS19922,MS22601,MS22707,MS24690,MS24932 nsv462213 5 76103380 76148625 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538431 S 1557 1 0 "" 1780862346_A nsv882210 5 76122353 76176093 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587459 S 6533 1 0 F2RL1 IS38055 nsv521533 5 76127981 76136292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698151 S 2026 0 1 "" nsv882211 5 76136292 76161333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509825 S 6533 0 1 F2RL1 SP54956 esv994503 5 76164986 76179938 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565588 S 3 0 1 F2RL1 HuRef esv34133 5 76174452 76275086 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 S100Z nsv524024 5 76201774 76223533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699886 S 2026 0 1 S100Z nsv830355 5 76230478 76403776 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444758,nssv1444757 M 95 2 0 AGGF1,CRHBP,S100Z nsv329265 5 76271746 76274014 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347843 M 24 "" nsv823102 5 76292673 76424043 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438815 S 31 1 0 AGGF1,CRHBP,LOC728723,SNORA47,ZBED3 NA18973 nsv882212 5 76310293 76378585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540542 S 6533 1 0 AGGF1 MS14907 esv23342 5 76353552 76358784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12894 S 451 0 1 "" NA11995 esv268427 5 76404663 76404920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510648,essv2503024,essv2501214,essv2494957,essv2505369,essv2505793,essv2509253,essv2495490,essv2507011,essv2499046 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18507,NA18516,NA18520,NA18853,NA18861,NA18909,NA18916,NA19102,NA19114 esv29310 5 76408987 76409826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10526 S 451 0 1 ZBED3 NA18511 nsv469515 5 76411762 76562428 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649681 M 265 0 1 Samples from several populations that are part of the HapMap project. LOC728723,PDE8B,SNORA47,ZBED3 nsv4886 5 76417020 76450163 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2526 S 9 1 0 LOC728723,ZBED3 NA18555 nsv4887 5 76461193 76481295 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4846 S 9 1 0 LOC728723 NA19129 esv271286 5 76462179 76468234 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540190,essv2543715,essv2524021,essv2530221,essv2551435 M 157 5 0 Samples from several populations that are part of the HapMap project. LOC728723 NA18489,NA18870,NA19129,NA19141,NA19257 esv29763 5 76541626 76543112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14281 S 451 0 2 PDE8B NA12414,NA18511 nsv507265 5 76553185 76559185 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622942 S 4 1 0 PDE8B NA18994 esv2640816 5 76568930 76570446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251560 S 1 0 1 PDE8B NA18507 esv25490 5 76590348 76590938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18659 S 451 0 1 PDE8B NA18916 esv5973 5 76662901 76662981 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28414 S 1 1 0 PDE8B SJK nsv4889 5 76718752 76751039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2527 S 9 1 0 PDE8B NA18555 esv2619324 5 76726357 76727256 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326785 S 1 1 0 PDE8B NA18507 esv1478247 5 76726986 76726986 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209940 S 2 1 0 PDE8B HuRef esv271727 5 76751931 76752203 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521409,essv2570960,essv2568391,essv2545360,essv2577254,essv2548416,essv2576163,essv2544780,essv2541131,essv2542792,essv2524316,essv2534706,essv2539834,essv2549451,essv2519868,essv2531133,essv2532681,essv2567682,essv2528997,essv2541690,essv2569986,essv2553472,essv2558987,essv2578284,essv2573045,essv2555671,essv2566429,essv2530180,essv2573996,essv2573401,essv2547638,essv2524954 M 157 32 0 Samples from several populations that are part of the HapMap project. PDE8B NA07347,NA07357,NA11894,NA11993,NA11995,NA12003,NA12043,NA12045,NA12814,NA18526,NA18545,NA18550,NA18555,NA18561,NA18563,NA18564,NA18566,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18638,NA18940,NA18942,NA18945,NA18948,NA18949,NA18951,NA18964 nsv820138 5 76763372 76763886 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418978 S 2 0 1 WDR41 AK1 esv273296 5 76789296 76789652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580612 S 7 1 0 Samples from several populations that are part of the HapMap project. WDR41 NA19238 esv270539 5 76789321 76789673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511024,essv2494956,essv2511332,essv2494414,essv2507476,essv2505193,essv2495103,essv2501454,essv2509649,essv2512080,essv2498088,essv2503635 M 157 12 0 Samples from several populations that are part of the HapMap project. WDR41 NA06986,NA11831,NA18520,NA18570,NA18572,NA18638,NA18853,NA18964,NA19093,NA19129,NA19238,NA19240 esv2508140 5 76918022 76918990 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197966 S 1 1 0 "" NA18507 esv1644148 5 76918585 76918585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108959 S 2 1 0 "" HuRef esv268306 5 76936449 76936637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494131,essv2493183,essv2505254,essv2493916,essv2509205,essv2497381 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18853,NA18871,NA18909,NA18959 nsv823103 5 77038439 77039522 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428270 S 31 0 1 TBCA AK10 esv7921 5 77084071 77084440 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30362 S 1 0 1 TBCA SJK esv259947 5 77087879 77088444 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395002,essv2398295 M 144 0 0 Samples from several populations that are part of the HapMap project. TBCA NA18511,NA19093 esv2538870 5 77097376 77098836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323442 S 1 0 1 TBCA NA18507 esv2228193 5 77097871 77098580 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4540844 S 1 0 1 TBCA NA18507 esv4231 5 77098012 77098456 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26672 S 1 0 1 Single Asian sample YH TBCA YH esv7635 5 77098034 77098377 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30076 S 1 0 1 TBCA SJK nsv328235 5 77098065 77098374 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346813 M 24 TBCA esv989167 5 77098071 77098380 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578886 S 3 0 1 TBCA HuRef esv1483892 5 77098081 77098391 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282012 S 2 0 1 TBCA HuRef esv2432423 5 77140538 77142073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195437 S 1 0 1 "" NA18507 esv1968688 5 77140786 77141512 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910395 S 1 0 1 "" NA18507 esv4396 5 77140935 77141361 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26837 S 1 0 1 Single Asian sample YH "" YH esv1432435 5 77140988 77141318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206722 S 2 0 1 "" HuRef esv7949 5 77140990 77141297 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30390 S 1 0 1 "" SJK nsv4890 5 77144761 77147045 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3362 S 9 1 0 "" NA12878 nsv329632 5 77210444 77210444 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348210 M 24 "" nsv882213 5 77317459 77500300 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592550 S 6533 0 1 AP3B1 IS39243 nsv329130 5 77326432 77326432 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347708 M 24 "" esv4975 5 77609870 77610354 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27416 S 1 0 1 Single Asian sample YH AP3B1 YH esv1469212 5 77609933 77610223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955828 S 2 0 1 AP3B1 HuRef nsv328833 5 77609934 77610223 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347411 M 24 AP3B1 esv259855 5 77659799 77660520 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394887 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18942 esv268637 5 77689883 77690243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514757,essv2518126,essv2516842,essv2519142,essv2518861 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12872,NA12892,NA19141,NA19239 esv274107 5 77689895 77690133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580514,essv2579604 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv328878 5 77723602 77723651 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347456 M 24 SCAMP1 esv1508933 5 77723618 77723668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837919 S 2 0 1 SCAMP1 HuRef esv2026918 5 77761443 77762022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788635 S 1 0 1 SCAMP1 NA18507 esv1526123 5 77761852 77761852 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299553 S 2 1 0 SCAMP1 HuRef nsv830356 5 77882778 78047755 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444759,nssv1444760 M 95 1 1 LHFPL2 nsv328668 5 77916561 77916883 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347246 M 24 LHFPL2 nsv4891 5 77921052 77933079 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3363 S 9 1 0 LHFPL2 NA12878 esv2233315 5 77924117 77924462 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860201 S 1 0 1 LHFPL2 NA18507 nsv528833 5 77973209 78052616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705508 S 2026 0 1 LHFPL2 esv25871 5 77979731 77980789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12753 S 451 0 2 LHFPL2 NA12414,NA18511 esv27853 5 77980879 77981656 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17068 S 451 0 4 "" NA18505,NA18517,NA18907,NA19190 nsv820433 5 77980879 77981656 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420527 S 1 0 1 "" NA10851 esv268989 5 78026554 78026894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519262,essv2517480,essv2515653 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12815 esv1009817 5 78071747 78071747 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582102 S 3 1 0 "" HuRef esv1472877 5 78071748 78071748 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102382 S 2 1 0 "" HuRef nsv327788 5 78071749 78071749 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346366 M 24 "" esv1692461 5 78081288 78081288 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803736 S 2 1 0 "" HuRef esv273618 5 78133661 78134001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583969,essv2584524,essv2583869 M 7 3 0 Samples from several populations that are part of the HapMap project. ARSB NA19238,NA19239,NA19240 esv33131 5 78137898 78138243 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95879 S 51 0 1 ARSB 21911 esv991971 5 78143532 78148765 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565542 S 3 0 1 ARSB HuRef nsv823104 5 78145544 78147498 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432862 S 31 0 1 ARSB NA18972 dgv147e180 5 78145544 78147546 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1008797,esv1004260 M 3 0 1 ARSB HuRef esv1004159 5 78145555 78147625 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579005 S 3 0 1 ARSB HuRef esv26822 5 78145558 78147546 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19861 S 451 0 2 ARSB NA12878,NA18523 esv32584 5 78145665 78147458 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93912,essv96866,essv94115,essv95785,essv96646,essv93227,essv99608,essv100258 M 51 0 8 ARSB 21634,21659,21802,21911,22011,22170,22217,22286 nsv515905 5 78145873 78146288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670176,nssv693554,nssv693113,nssv667736,nssv687302,nssv676646,nssv663085,nssv676020,nssv690200,nssv655340,nssv665238,nssv655569,nssv666600,nssv661427,nssv678306 M 2026 0 15 ARSB nsv525764 5 78145873 78151267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701932 S 2026 0 1 ARSB nsv329776 5 78149748 78149748 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348354 M 24 ARSB esv1155254 5 78149879 78149879 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198215 S 2 1 0 ARSB HuRef esv33559 5 78172047 78172170 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93274 S 51 0 1 ARSB 22170 dgv346n21 5 78187948 78300797 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518918,nsv519629 M 2026 2 0 ARSB esv268883 5 78289485 78289662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540801,essv2546275,essv2548200,essv2550800,essv2534976,essv2547613,essv2564687,essv2539922,essv2519920,essv2551168,essv2562349,essv2567133,essv2549040,essv2554622,essv2524819,essv2563486 M 157 16 0 Samples from several populations that are part of the HapMap project. ARSB NA07037,NA07346,NA07357,NA10847,NA11831,NA11881,NA12045,NA12155,NA12249,NA12717,NA12751,NA18563,NA18566,NA18858,NA18909,NA18947 nsv882214 5 78293007 78308296 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512150 S 6533 0 1 ARSB SP55312 nsv509973 5 78305700 78311700 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623977,nssv622091 M 4 0 2 ARSB NA10860,NA18994 nsv882215 5 78308698 78345800 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540284 S 6533 1 0 ARSB,DMGDH MS14779 esv2522674 5 78311846 78313360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252118 S 1 0 1 ARSB NA18507 esv2133112 5 78312325 78313023 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520089 S 1 0 1 ARSB NA18507 esv3590 5 78312470 78312976 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26031 S 1 0 1 Single Asian sample YH ARSB YH dgv199n6 5 78312505 78312843 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329485,nsv328802 M 24 ARSB esv6759 5 78312516 78312834 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29200 S 1 0 1 ARSB SJK esv2028237 5 78313277 78314025 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507880 S 1 0 1 ARSB NA18507 esv995273 5 78313484 78313802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583745 S 3 0 1 ARSB HuRef esv8997 5 78313484 78313849 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31438 S 1 0 1 ARSB SJK esv1499345 5 78313495 78313814 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723826 S 2 0 1 ARSB HuRef esv26356 5 78316261 78317045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15702 S 451 0 1 ARSB NA12414 nsv462215 5 78355378 78387392 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538432 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DMGDH HGDP01262 nsv462216 5 78360108 78409187 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538433 S 1557 0 1 BHMT2,DMGDH 1780862020_A nsv519156 5 78387268 78503760 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694311 S 2026 1 0 BHMT,BHMT2,DMGDH nsv525398 5 78446320 78449260 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701521 S 2026 1 0 BHMT esv1010320 5 78461229 78462722 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563481 S 3 1 0 BHMT HuRef nsv4892 5 78461657 78482471 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv479 S 9 1 0 BHMT NA19240 esv272460 5 78462275 78463949 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579953,essv2578908 M 7 2 0 Samples from several populations that are part of the HapMap project. BHMT NA12892,NA19239 nsv512853 5 78462284 78462509 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625494 S 1 1 0 BHMT 1 nsv823105 5 78512747 78518413 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421702 S 31 0 1 "" NA18997 nsv882216 5 78556800 78739343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556742 S 6533 0 1 HOMER1,JMY MS22146 nsv4893 5 78581313 78614914 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8118 S 9 1 0 JMY NA12156 esv1481046 5 78602126 78602178 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663512 S 2 0 1 JMY HuRef esv6669 5 78606449 78606518 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29110 S 1 1 0 JMY SJK nsv882217 5 78752383 78832093 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595923 S 6533 0 1 HOMER1 IS40368 nsv882218 5 78839534 78945080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591062 S 6533 0 1 HOMER1,PAPD4 IS38630 nsv462218 5 78839534 78948599 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538435 S 1557 1 0 HOMER1,PAPD4 1798860114_A nsv830357 5 78897206 79058345 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444761 S 95 1 0 CMYA5,PAPD4 nsv518412 5 79048094 79048957 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695844 S 2026 0 1 CMYA5 esv1002149 5 79048694 79049307 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564244 S 3 0 1 CMYA5 HuRef esv3406 5 79049405 79049812 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25847 S 1 0 1 Single Asian sample YH CMYA5 YH esv996722 5 79049460 79049766 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569873 S 3 0 1 CMYA5 HuRef esv5704 5 79049465 79049773 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28145 S 1 0 1 CMYA5 SJK nsv327489 5 79049468 79049774 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346067 M 24 CMYA5 esv7986 5 79082077 79087418 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30427 S 1 0 0 CMYA5 SJK esv2614623 5 79084227 79087498 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274458 S 1 0 1 CMYA5 NA18507 esv1919523 5 79150236 79150635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606853 S 1 0 1 "" NA18507 esv1098547 5 79150445 79150541 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002897 S 2 0 1 "" HuRef nsv527750 5 79191335 79196242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704236 S 2026 0 1 "" nsv518012 5 79191335 79202743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695424 S 2026 0 1 "" nsv521066 5 79202743 79206357 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689493,nssv681106 M 2026 2 0 "" nsv823106 5 79312883 79313343 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439667 S 31 0 1 MTX3 NA18537 nsv4894 5 79341484 79374788 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4847 S 9 1 0 THBS4 NA19129 dgv6187n71 5 79356433 79389903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882219,nsv882221,nsv882222 M 6533 0 5 THBS4 SP52708,SP54620,SP55847,SP56143,SP57472 nsv882220 5 79357195 79371731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515537,nssv1514799,nssv1502349,nssv1505855,nssv1517743 M 6533 0 5 THBS4 SP51109,SP54042,SP56084,SP56223,SP57367 nsv882223 5 79366315 79392873 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506583 S 6533 0 1 THBS4 SP54381 nsv882224 5 79371731 79387491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503514 S 6533 0 1 THBS4 SP52077 nsv882225 5 79378275 79389184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516479,nssv1508972 M 6533 0 2 THBS4 SP54672,SP56846 dgv6188n71 5 79382636 79389184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882228,nsv882229,nsv882226 M 6533 0 3 THBS4 SP51307,SP52060,SP56874 nsv882227 5 79383092 79387491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502612 S 6533 0 1 THBS4 SP51302 nsv882230 5 79387300 79390403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500877 S 6533 0 1 THBS4 SP51132 esv2287240 5 79388067 79388527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851209 S 1 0 1 THBS4 NA18507 dgv708n27 5 79434150 79438199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462219,nsv462220 M 1557 0 2 "" HGDP00961,NINDS_111 nsv516093 5 79447004 79448084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661452,nssv666162,nssv656661,nssv701778,nssv680055,nssv658628,nssv670423,nssv673800,nssv661724,nssv684084,nssv667830,nssv656526 M 2026 0 12 SERINC5 esv2588767 5 79592121 79593915 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243774 S 1 0 1 "" NA18507 esv2415333 5 79592755 79593452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755906 S 1 0 1 "" NA18507 esv5276 5 79592902 79593423 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27717 S 1 0 1 Single Asian sample YH "" YH nsv328136 5 79592945 79593258 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346714 M 24 "" esv8253 5 79592955 79593259 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30694 S 1 0 1 "" SJK esv1004362 5 79592955 79593268 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574623 S 3 0 1 "" HuRef nsv522634 5 79613516 79616574 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706032 S 2026 0 1 "" nsv518863 5 79614553 79616574 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696318 S 2026 1 0 "" nsv518480 5 79621841 79784138 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695918 S 2026 1 0 CRSP8P,LOC644936,SPZ1,ZFYVE16 esv1584641 5 79632896 79632976 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795014 S 2 0 1 "" HuRef esv1745670 5 79633084 79633133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011846 S 2 0 1 "" HuRef esv23263 5 79688569 79694756 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20746 S 451 0 1 "" NA18907 nsv507266 5 79690319 79696319 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621802,nssv620305,nssv617677,nssv622943 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv328596 5 79697888 79705819 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347174 M 24 "" nsv507267 5 79921410 79927410 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622944,nssv620306 M 4 2 0 "" NA15510,NA18994 nsv512854 5 79931414 79931900 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625495 S 1 1 0 "" 1 esv1665943 5 79931871 79931871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011550 S 2 1 0 "" HuRef esv1466877 5 79931875 79931875 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642413 S 2 1 0 "" HuRef esv1389805 5 79931951 79931951 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276980 S 2 1 0 "" HuRef nsv513244 5 79936422 79940564 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626749 S 1 0 1 "" 1 nsv4895 5 79955166 79971724 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4848 S 9 1 0 DHFR NA19129 esv23209 5 79957740 79960782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18283 S 451 0 8 DHFR NA18502,NA18517,NA18858,NA18861,NA19099,NA19108,NA19147,NA19190 nsv10709 5 79981555 79984631 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13217,nssv13595 M 31 0 2 Samples from several populations that are part of the HapMap project. DHFR,MTRNR2L2 NA10847,NA18563 esv23281 5 79981609 79984011 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12895 S 451 1 1 DHFR,MTRNR2L2 NA18916,NA19190 nsv10710 5 79992202 80000705 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13247,nssv13072,nssv13668,nssv13979,nssv15291 M 31 5 0 Samples from several populations that are part of the HapMap project. MSH3 NA18563,NA18564,NA18860,NA18942,NA19173 nsv823107 5 79994906 79995491 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434418 S 31 1 0 MSH3 NA18570 nsv882231 5 80020470 80223685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592551 S 6533 0 1 MSH3 IS39243 esv1765430 5 80023961 80023961 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022914 S 2 1 0 MSH3 HuRef nsv10711 5 80062244 80063823 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14401 S 31 1 0 Samples from several populations that are part of the HapMap project. MSH3 NA19240 esv2452635 5 80074297 80075915 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178755 S 1 0 1 MSH3 NA18507 esv2360560 5 80074952 80075637 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950304 S 1 0 1 MSH3 NA18507 esv4350 5 80075024 80075516 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26791 S 1 0 1 Single Asian sample YH MSH3 YH esv1008736 5 80075135 80075443 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568700 S 3 0 1 MSH3 HuRef esv1113629 5 80075137 80075446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4133449 S 2 0 1 MSH3 HuRef nsv329246 5 80075138 80075446 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347824 M 24 MSH3 esv7059 5 80075140 80075434 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29500 S 1 0 1 MSH3 SJK esv267537 5 80168294 80169918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510709,essv2496344,essv2507104,essv2493513 M 157 4 0 Samples from several populations that are part of the HapMap project. MSH3 NA18501,NA18510,NA18870,NA19137 nsv4896 5 80222958 80248000 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9671 S 9 1 0 "" NA18507 nsv830358 5 80232861 80394676 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444763 S 95 1 0 RASGRF2 nsv507268 5 80245378 80251378 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617678 S 4 1 0 "" CHM esv26734 5 80291107 80292693 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15582 S 451 0 2 RASGRF2 NA12414,NA18511 nsv830360 5 80319034 80481796 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444764 S 95 0 1 RASGRF2 nsv4897 5 80319952 80365979 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6006 S 9 0 1 RASGRF2 NA12156 nsv882232 5 80429705 80472340 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545920 S 6533 1 0 RASGRF2 MS17043 nsv4898 5 80528243 80562076 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2698 S 9 1 0 RASGRF2 NA18555 nsv819322 5 80626833 80629594 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419477 S 2 0 1 LOC100131067 AK1 esv2524327 5 80785927 80787484 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268820 S 1 0 1 SSBP2 NA18507 esv2125406 5 80786719 80787439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747387 S 1 0 1 SSBP2 NA18507 esv4616 5 80786848 80787422 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27057 S 1 0 1 Single Asian sample YH SSBP2 YH esv993941 5 80786903 80787231 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572455 S 3 0 1 SSBP2 HuRef nsv462221 5 80869894 80918866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538438 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SSBP2 HGDP01418 nsv525225 5 80884840 80918866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701313 S 2026 0 1 SSBP2 nsv882233 5 80884840 81084943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592552 S 6533 0 1 SSBP2 IS39243 nsv882234 5 80889464 81002422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591692 S 6533 0 1 SSBP2 IS39011 nsv525437 5 80912115 81000208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701565 S 2026 0 1 SSBP2 nsv462222 5 80936475 81000208 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538439 S 1557 1 0 SSBP2 1780862090_A nsv882235 5 80944888 81041817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555931 S 6533 0 1 SSBP2 MS21717 nsv830361 5 80945567 81116165 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444768,nssv1444767,nssv1444766,nssv1444765,nssv1444769 M 95 0 5 SSBP2 dgv6189n71 5 80966748 81041817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882237,nsv882236 M 6533 0 2 SSBP2 IS31980,IS41874 nsv527374 5 80973851 81000208 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703806 S 2026 0 1 SSBP2 nsv519589 5 80994757 81000208 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656984,nssv690459,nssv705337 M 2026 1 2 SSBP2 nsv830362 5 81026543 81220005 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444770 S 95 1 0 SSBP2 esv2613325 5 81043435 81044932 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173148 S 1 0 1 SSBP2 NA18507 esv2034602 5 81043732 81044381 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4633694 S 1 0 1 SSBP2 NA18507 esv3134 5 81043853 81044253 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25575 S 1 0 1 Single Asian sample YH SSBP2 YH esv1711772 5 81043937 81044210 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858487 S 2 0 1 SSBP2 HuRef nsv327664 5 81043938 81044210 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346242 M 24 SSBP2 nsv4900 5 81057774 81103121 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6007 S 9 0 1 SSBP2 NA12156 nsv471018 5 81072561 81516127 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545126,nssv545127 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATG10,SSBP2 HGDP00903,HGDP01084 nsv517223 5 81085296 81086670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654061,nssv687802,nssv664127,nssv663199 M 2026 0 4 "" esv2752082 5 81201460 81444500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982177,essv6988501,essv6982178 M 771 1 0 ATG10 BEC_40 nsv509974 5 81202140 81208140 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618205,nssv623978 M 4 0 2 "" CHM,NA18994 esv2513693 5 81217564 81219230 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253734 S 1 0 1 "" NA18507 esv2138348 5 81218054 81218777 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903309 S 1 0 1 "" NA18507 esv3613 5 81218132 81218741 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26054 S 1 0 1 Single Asian sample YH "" YH esv2589743 5 81218236 81218577 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360438 S 1 0 1 "" NA18507 esv1527455 5 81218246 81218588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354393 S 2 0 1 "" HuRef esv9064 5 81218249 81218577 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31505 S 1 0 1 "" SJK nsv830363 5 81229925 81281507 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444771,nssv1444772,nssv1444775,nssv1444774,nssv1444776 M 95 0 5 "" dgv1815e1 5 81245981 81550493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv479,essv23878,essv21869,essv23451 M 271 0 0 ATG10 NA10854,NA11839,NA12814 nsv511282 5 81270067 81282298 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625032 S 1 0 1 "" 1 esv28995 5 81277195 81277831 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17867 S 451 4 0 "" NA18523,NA18916,NA19114,NA19147 esv2146847 5 81277844 81278504 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639467 S 1 0 1 "" NA18507 nsv328970 5 81324942 81324942 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347548 M 24 ATG10 essv21771 5 81369998 81550493 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATG10 NA12239 esv270429 5 81409943 81410092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510269,essv2502974,essv2493680,essv2505487,essv2500530,essv2512793,essv2505665,essv2506513,essv2499650 M 157 9 0 Samples from several populations that are part of the HapMap project. ATG10 NA10851,NA18507,NA18517,NA18952,NA18956,NA18980,NA19005,NA19108,NA19225 nsv821002 5 81455586 81467218 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420528 S 1 1 0 ATG10 NA10851 nsv10712 5 81455614 81470280 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12730,nssv13515,nssv15840,nssv15321,nssv14468,nssv15193,nssv14013,nssv15297,nssv12551,nssv14009,nssv13698,nssv13477,nssv13495,nssv13277,nssv13132,nssv14832,nssv14461,nssv13625,nssv13738,nssv15893,nssv13550,nssv13614,nssv13352,nssv15584,nssv13846,nssv14529,nssv13316,nssv12349,nssv14014,nssv13896 M 31 0 30 Samples from several populations that are part of the HapMap project. ATG10 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv25341 5 81456092 81466531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17189,esv11236,esv11313,esv12980 M 451 0 40 ATG10 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1267942 5 81471835 81471914 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872831 S 2 0 1 ATG10 HuRef nsv830364 5 81524522 81693211 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444777 S 95 0 1 ATG10,ATP6AP1L,RPS23 nsv520938 5 81576994 81756475 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697698 S 2026 1 0 ATG10,ATP6AP1L,RPS23 nsv524657 5 81651106 81673640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700624 S 2026 0 1 "" esv270444 5 81688631 81688716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517150 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set dgv6190n71 5 81745215 81831228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882238,nsv882239 M 6533 0 2 "" SP50805,SP53060 esv1570028 5 81797801 81797801 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031695 S 2 1 0 "" HuRef esv1687229 5 81797898 81797898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119610 S 2 1 0 "" HuRef esv1688288 5 81804740 81804740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916140 S 2 1 0 "" HuRef nsv4901 5 81971433 82001757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2528 S 9 1 0 "" NA18555 nsv882240 5 82026732 82070894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572533 S 6533 0 1 "" IS33129 nsv4902 5 82035275 82080380 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8119 S 9 0 1 "" NA12156 esv273422 5 82050533 82050840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580723 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271351 5 82050734 82050887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503059,essv2513337,essv2495650,essv2499147,essv2499837,essv2501845 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18907,NA18916,NA19114,NA19225,NA19239 esv24420 5 82098901 82101868 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15518,esv10237 M 451 0 3 "" NA12287,NA18508,NA19190 nsv882241 5 82118404 82368348 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526087 S 6533 1 0 MIR3977 SP56995 esv2453220 5 82191906 82193451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175097 S 1 0 1 "" NA18507 esv2224048 5 82192286 82192999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959062 S 1 0 1 "" NA18507 esv9469 5 82192431 82192793 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31910 S 1 0 1 "" SJK esv4177 5 82192437 82192904 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26618 S 1 0 1 Single Asian sample YH "" YH esv2431713 5 82192475 82192789 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227323 S 1 0 1 "" NA18507 esv1006494 5 82192484 82192798 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568059 S 3 0 1 "" HuRef nsv330144 5 82192489 82192803 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348722 M 24 "" nsv437466 5 82236917 82243474 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467347 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18515 nsv525083 5 82247794 82248328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701141 S 2026 0 1 "" nsv882242 5 82347320 82662675 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581377 S 6533 0 1 SCARNA18,TMEM167A,XRCC4 IS35572 esv273137 5 82351985 82352308 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584555,essv2583374 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv511108 5 82379887 82392734 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618646 S 4 0 0 TMEM167A CHM esv270814 5 82413581 82413688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503310,essv2507835,essv2510050,essv2496051 M 157 4 0 Samples from several populations that are part of the HapMap project. XRCC4 NA18542,NA18564,NA18593,NA18603 dgv6191n71 5 82432343 82662675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882243,nsv882244 M 6533 0 2 XRCC4 IS39011,MS17611 nsv830365 5 82457087 82613383 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444778 S 95 0 1 XRCC4 esv2312144 5 82473678 82474117 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746384 S 1 0 1 XRCC4 NA18507 nsv471019 5 82475451 82556128 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545128 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations XRCC4 HGDP00553 dgv6192n71 5 82509401 82662675 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882246,nsv882247,nsv882245 M 6533 0 5 XRCC4 IS31554,IS40067,MS10737,MS22104,MS23670 esv3557 5 82518453 82519106 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25998 S 1 0 1 Single Asian sample YH XRCC4 YH esv6941 5 82518499 82518836 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29382 S 1 0 1 XRCC4 SJK nsv519738 5 82529814 82537649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685055,nssv658030 M 2026 0 2 XRCC4 esv268758 5 82532092 82532382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508221,essv2501546 M 157 2 0 Samples from several populations that are part of the HapMap project. XRCC4 NA18561,NA18608 dgv709n27 5 82580547 82668485 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462223,nsv462226,nsv462225,nsv462224 M 1557 0 4 XRCC4 HGDP00189,HGDP00583,HGDP00597,HGDP00689 nsv830366 5 82667445 82849256 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444779 S 95 1 0 VCAN,XRCC4 nsv4903 5 82772481 82806524 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3364 S 9 1 0 VCAN NA12878 esv7817 5 82808690 82808743 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30258 S 1 1 0 VCAN SJK nsv830367 5 82863408 83074137 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444781,nssv1444780 M 95 1 1 HAPLN1,VCAN nsv462227 5 82876015 82907302 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538444 S 1557 0 1 VCAN 1780854464_A esv26188 5 82938754 82939899 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16240 S 451 1 0 "" NA12414 esv2583121 5 82941013 82942665 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317868 S 1 0 1 "" NA18507 esv2111987 5 82941623 82942333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715476 S 1 0 1 "" NA18507 esv994232 5 82941815 82942133 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575994 S 3 0 1 "" HuRef esv8073 5 82941835 82942135 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30514 S 1 0 1 "" SJK nsv4904 5 82967692 82999634 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6008 S 9 1 0 HAPLN1 NA12156 nsv327409 5 82977067 82979858 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345987 M 24 HAPLN1 nsv882248 5 83007677 83072548 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574821 S 6533 1 0 HAPLN1 IS33630 nsv436461 5 83084752 83092576 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466226 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2548910 5 83162759 83163749 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178977 S 1 1 0 "" NA18507 esv273624 5 83163147 83163376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579020 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268780 5 83163156 83163420 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557769,essv2565591,essv2540726,essv2546360,essv2521429,essv2536722,essv2522934,essv2570777,essv2556548,essv2545495,essv2548367,essv2521848,essv2525534,essv2535057,essv2544335,essv2520543,essv2529314,essv2558688,essv2577791,essv2553591,essv2565377,essv2562112,essv2537652,essv2547082,essv2530520,essv2540129,essv2557502,essv2557251,essv2552531,essv2532413,essv2562547,essv2569221,essv2578542,essv2569727,essv2561504,essv2540483,essv2524364,essv2565910,essv2567801,essv2528795,essv2566998,essv2541885,essv2550966,essv2569156,essv2543410,essv2556408,essv2527832,essv2562441,essv2539504,essv2578207,essv2530012,essv2557763,essv2556043,essv2522605,essv2573548,essv2527013,essv2575032,essv2526554,essv2524244,essv2574931,essv2530392,essv2568446,essv2545021,essv2549921,essv2571377,essv2545878,essv2551281,essv2533381,essv2547924 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA10851,NA11829,NA11831,NA11881,NA11894,NA11920,NA11931,NA11993,NA11994,NA12003,NA12045,NA12144,NA12156,NA12249,NA12414,NA12716,NA12749,NA12750,NA12761,NA12763,NA12812,NA12874,NA12878,NA12892,NA18486,NA18489,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18520,NA18523,NA18552,NA18555,NA18572,NA18577,NA18579,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18949,NA18953,NA18956,NA18960,NA18964,NA19005,NA19102,NA19114,NA19129,NA19138,NA19141,NA19147,NA19172,NA19225,NA19238,NA19239,NA19257 nsv823108 5 83225533 83364752 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438816 S 31 0 1 EDIL3 NA18973 nsv4905 5 83241416 83274781 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2699 S 9 1 0 EDIL3 NA18555 nsv525596 5 83258072 83310844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701739 S 2026 0 1 EDIL3 nsv830368 5 83279031 83451375 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444782,nssv1444783 M 95 0 2 EDIL3 dgv200n6 5 83347120 83351651 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329003,nsv328041 M 24 EDIL3 nsv520830 5 83404046 83412138 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697638 S 2026 1 0 EDIL3 nsv329064 5 83411723 83411873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347642 M 24 EDIL3 nsv830369 5 83442255 83616800 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444785 S 95 0 1 EDIL3 esv2120037 5 83492157 83492558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566948 S 1 0 1 EDIL3 NA18507 nsv882249 5 83508779 83600285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592553 S 6533 0 1 EDIL3 IS39243 nsv830371 5 83549730 83718796 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444786 S 95 1 0 EDIL3 nsv4906 5 83725782 83758544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6009 S 9 1 0 "" NA12156 nsv518166 5 83835179 83943410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695587 S 2026 0 1 "" esv988407 5 83851312 83861801 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564983 S 3 0 1 "" HuRef nsv823110 5 83869860 83871818 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425754 S 31 1 0 "" AK4 dgv6193n71 5 83874339 83989687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882251,nsv882250 M 6533 0 2 "" IS32607,MS17611 nsv882252 5 83919755 83981360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574273 S 6533 0 1 "" IS33533 esv2612632 5 83922065 83923579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322845 S 1 0 1 "" NA18507 nsv462231 5 83970229 84017219 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538445 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00197 nsv4907 5 83972501 84000000 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3365,nssv6010,nssv2529,nssv4849 M 9 0 4 "" NA12156,NA12878,NA18555,NA19129 nsv511109 5 83974867 83991661 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621584 S 4 0 0 "" NA15510 nsv508368 5 83981588 83997062 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617512,nssv618775,nssv622526 M 4 0 3 "" CHM,NA10860,NA18994 dgv104n16 5 83983452 83991751 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436471,nsv435818 M 2 0 2 "" NA15510,NA18505 dgv48n50 5 83983572 83991190 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513245,nsv511302 M 1 0 1 "" 1 dgv950n67 5 83983605 83990953 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823112,nsv823111 M 31 0 28 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv499301 5 83983673 83991093 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585955 S 9 0 1 "" esv1001599 5 83983699 83990735 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565477 S 3 0 1 "" HuRef nsv820832 5 83983909 83991267 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420529 S 1 0 1 "" NA10851 esv1369869 5 83984081 83991043 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366066 S 2 0 1 "" HuRef dgv28n14 5 83984178 83989687 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433471,nsv433474,nsv433473,nsv433475,nsv433472 M 9 0 5 "" NA12156,NA12878,NA15510,NA18555,NA18956 esv2421387 5 83984178 83990984 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5080504,essv5100862,essv5090329,essv5132328,essv5149841,essv5142625,essv5101810,essv5108378,essv5127201,essv5157455,essv5108626,essv5140771,essv5131862,essv5026208,essv5080141,essv5145884,essv5145414,essv5121158,essv5148868,essv5007604,essv5115213,essv5064080,essv5021577,essv5121155,essv5106219,essv5103062,essv5033586,essv5159715,essv5127803,essv5016599,essv5063079,essv5079972,essv5123665,essv5156491,essv5019870,essv5087860,essv5158313,essv5010313,essv5092808,essv5137146,essv5153148,essv5115540,essv5079568,essv5136827,essv5147279,essv5131809,essv5040701,essv5138995,essv5055007,essv5048727,essv5013160,essv5120221,essv5008926,essv5035784,essv5157589,essv5059665,essv5082318,essv5021851,essv5153616,essv5033277,essv5101817,essv5149205,essv5057554,essv5079505,essv5137331,essv5035057,essv5061398,essv5030126,essv5073261,essv5094917,essv5041936,essv5085366,essv5008551,essv5010614,essv5114780,essv5053550,essv5121118,essv5111009,essv5110114,essv5084073,essv5064972,essv5031695,essv5160046,essv5069085,essv5003293,essv5149788,essv5056912,essv5060011,essv5142200,essv5065331,essv5115602,essv5121222,essv5046589,essv5111198,essv5045635,essv5156126,essv5139620,essv5097814,essv5069062,essv5126325,essv5027440,essv5152859,essv5004323,essv5042726,essv5076193,essv5027398,essv5002848,essv5053584,essv5013840,essv5044037,essv5006747,essv5127444,essv5121243,essv5010944,essv5013378,essv5113429,essv5118597,essv5100867,essv5155176,essv5156859,essv5153524,essv5145258,essv5120388,essv5023899,essv5105586,essv5079559,essv5135543,essv5030310,essv5087617,essv5064511,essv5096036,essv5125287,essv5146397,essv5053014,essv5115790,essv5129992,essv5143695,essv5056398,essv5127653,essv5065744,essv5033345,essv5081204,essv5035257,essv5095430,essv5135697,essv5075623,essv5148315,essv5051714,essv5028471,essv5088653,essv5124261,essv5041244,essv5005597,essv5038269,essv5066080,essv5139269,essv5098378,essv5025493,essv5108507,essv5113378,essv5116626,essv5150324,essv5011386,essv5077632,essv5087717,essv5153988,essv5115367,essv5007384,essv5159342,essv5048785,essv5070211,essv5066695,essv5106221,essv5074244,essv5065336,essv5136242,essv5091665,essv5066266,essv5025159,essv5151767,essv5004684,essv5009768,essv5029573,essv5087390,essv5142055,essv5079369,essv5105831,essv5077402,essv5060693,essv5131010,essv5141757,essv5154218,essv5115126,essv5128682,essv5007419,essv5021395,essv5108940,essv5095922,essv5002652,essv5043008,essv5143866,essv5103521,essv5146565,essv5101394,essv5006613,essv5066744,essv5159563,essv5100691,essv5070707,essv5051086,essv5135745,essv5096079,essv5086755,essv5160887,essv5156569,essv5115726,essv5126817,essv5081811,essv5128422,essv5067780,essv5054248,essv5055471,essv5144835,essv5134748,essv5021866,essv5022034,essv5065563,essv5005952,essv5137961,essv5160456,essv5139054,essv5088332,essv5096331,essv5152152,essv5103836,essv5062006,essv5099379,essv5087100,essv5088925,essv5127594,essv5109108,essv5025067,essv5053006,essv5069690,essv5100521,essv5125415,essv5003826,essv5134174,essv5039502,essv5082505,essv5155831,essv5029312,essv5110326,essv5077179,essv5047984 M 1184 255 0 "" NA18485,NA18486,NA18487,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18505,NA18506,NA18507,NA18509,NA18510,NA18515,NA18516,NA18517,NA18852,NA18854,NA18855,NA18857,NA18859,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18912,NA18913,NA18914,NA18923,NA18924,NA18925,NA18933,NA18934,NA18935,NA19031,NA19036,NA19041,NA19046,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19117,NA19118,NA19121,NA19123,NA19127,NA19129,NA19130,NA19132,NA19138,NA19139,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19174,NA19175,NA19181,NA19182,NA19183,NA19184,NA19186,NA19190,NA19191,NA19200,NA19202,NA19203,NA19210,NA19211,NA19225,NA19238,NA19239,NA19240,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19315,NA19317,NA19321,NA19324,NA19328,NA19332,NA19346,NA19347,NA19360,NA19372,NA19373,NA19374,NA19375,NA19381,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19396,NA19397,NA19398,NA19428,NA19431,NA19434,NA19435,NA19438,NA19439,NA19445,NA19446,NA19448,NA19457,NA19462,NA19463,NA19466,NA19467,NA19473,NA19474,NA19684,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19714,NA19720,NA19721,NA19723,NA19818,NA19917,NA19918,NA19919,NA19921,NA19982,NA20127,NA20128,NA20129,NA20287,NA20291,NA20292,NA20297,NA20301,NA20302,NA20317,NA20319,NA20322,NA20333,NA20336,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20347,NA20348,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20819,NA20902,NA20911,NA21104,NA21113,NA21295,NA21300,NA21301,NA21302,NA21307,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21336,NA21339,NA21344,NA21352,NA21362,NA21370,NA21382,NA21383,NA21390,NA21403,NA21404,NA21408,NA21417,NA21418,NA21423,NA21424,NA21425,NA21434,NA21441,NA21442,NA21454,NA21455,NA21475,NA21478,NA21485,NA21487,NA21489,NA21490,NA21510,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21580,NA21596,NA21600,NA21608,NA21611,NA21614,NA21617,NA21619,NA21632,NA21686,NA21716,NA21768 esv22379 5 83984188 83990854 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12835 S 451 13 0 "" NA12414,NA18502,NA18505,NA18517,NA18907,NA18909,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 nsv442952 5 83985102 83990457 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514312 5 83986064 83990432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627757 S 1414 0 1 "" dgv951n67 5 83986542 83990783 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823113,nsv823114 M 31 0 2 "" AK18,NA18526 nsv523535 5 84014710 84023989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699310 S 2026 0 1 "" dgv6194n71 5 84023989 84158672 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882258,nsv882256,nsv882254,nsv882253,nsv882259,nsv882257,nsv882255 M 6533 29 0 "" IS30522,IS31419,IS31481,IS32864,IS32944,IS33691,IS34141,IS34346,IS34951,IS35299,IS35445,IS35974,IS36103,IS36183,IS37247,IS37775,IS38115,IS38530,IS39181,IS39832,IS40329,IS40951,IS41292,MS15065,MS16455,MS19372,MS22971,MS22998,MS24586 nsv521418 5 84054094 84147680 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698028 S 2026 1 0 "" dgv710n27 5 84054094 84148611 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462234,nsv462233,nsv462232 M 1557 3 0 "" HGDP00001,HGDP00007,HGDP00230 dgv6195n71 5 84054447 84156824 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882260,nsv882263,nsv882262,nsv882264,nsv882261 M 6533 6 0 "" IS30365,IS33115,IS40005,IS40907,IS41192,IS41788 nsv462235 5 84090465 84126356 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538449 S 1557 0 1 "" 1780854326_A nsv830372 5 84098848 84269099 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444787,nssv1444788 M 95 1 1 "" nsv882265 5 84185193 85435415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546125 S 6533 0 1 "" MS17114 dgv6196n71 5 84190963 84444987 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882272,nsv882266,nsv882274,nsv882279,nsv882270,nsv882278 M 6533 0 6 "" IS31419,IS35083,IS35572,MS15199,MS18620,MS20872 nsv823115 5 84204051 84204954 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432865,nssv1429042,nssv1426656 M 31 3 0 "" AK12,AK6,NA18972 nsv882267 5 84206360 84585151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574274 S 6533 0 1 "" IS33533 dgv6197n71 5 84206360 84769773 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882282,nsv882268 M 6533 0 2 "" IS36722,MS22104 dgv6198n71 5 84213399 84378381 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882273,nsv882277,nsv882269,nsv882284,nsv882285 M 6533 0 7 "" IS30564,IS30597,IS31044,IS31302,IS33196,IS35145,MS13154 nsv882271 5 84214488 84299468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591694 S 6533 0 1 "" IS39011 dgv711n27 5 84218302 84280859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462236,nsv462237 M 1557 0 2 "" 1780862574_A,HGDP00100 nsv507269 5 84219948 84225948 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621803 S 4 1 0 "" NA10860 dgv6199n71 5 84227950 84299468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882276,nsv882280,nsv882281,nsv882275 M 6533 0 7 "" IS30925,IS39450,MS10098,MS10727,MS10737,MS14737,MS15312 nsv471020 5 84234173 84286880 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545129,nssv545130 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00710,HGDP01357 nsv462238 5 84234173 84305873 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538452 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00214 nsv882283 5 84251842 84299468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529926 S 6533 0 1 "" MS10126 nsv882286 5 84258025 84435697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569959,nssv1575865,nssv1569880 M 6533 0 3 "" IS31729,IS31758,IS33832 nsv471021 5 84266637 84363447 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545132 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv823116 5 84266870 84267523 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422600,nssv1435081,nssv1430575 M 31 3 0 "" AK16,NA18552,NA18942 dgv6200n71 5 84281732 84435697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882289,nsv882287,nsv882290,nsv882288 M 6533 0 4 "" IS31285,IS36219,IS37226,MS11002 nsv462240 5 84326238 85695581 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538453 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NBPF22P HGDP00781 dgv6201n71 5 84337189 84437757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882291,nsv882292 M 6533 0 3 "" IS30432,IS31067,IS34962 nsv830373 5 84342918 84493673 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444789 S 95 0 1 "" nsv523213 5 84357199 84363448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698934 S 2026 0 1 "" nsv882293 5 84378381 84542188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532242 S 6533 0 1 "" MS10737 nsv462241 5 84399973 84444987 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538454 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00634 nsv882294 5 84407764 84642284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575918 S 6533 0 1 "" IS33839 esv269259 5 84420200 84420562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495448,essv2511457,essv2508808,essv2500284,essv2496581,essv2493699,essv2500430,essv2503281,essv2497799,essv2500006,essv2507810,essv2506313,essv2500619,essv2494458,essv2501640,essv2505980,essv2512346,essv2505462,essv2503686,essv2506974,essv2498867,essv2495031 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11919,NA11920,NA12878,NA12891,NA18510,NA18517,NA18537,NA18542,NA18555,NA18558,NA18564,NA18566,NA18571,NA18572,NA18608,NA18861,NA18949,NA18952,NA18960,NA19102,NA19138 esv273262 5 84420219 84420470 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582186,essv2582427 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv818354 5 84435697 84444987 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417526 S 112 1 0 "" NA18968 nsv882295 5 84447374 84552170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601107 S 6533 0 1 "" IS41971 dgv6202n71 5 84447374 84732584 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882296,nsv882302 M 6533 0 2 "" IS40067,MS21717 nsv462242 5 84449593 84506435 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538455 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00171 esv21809 5 84456674 84487458 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16584 S 451 1 0 "" NA11894 nsv830374 5 84457438 84485133 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444797,nssv1444796,nssv1444790,nssv1444794,nssv1444792,nssv1444791,nssv1444793,nssv1444798,nssv1444799,nssv1444801,nssv1444802,nssv1444800 M 95 4 8 "" dgv6203n71 5 84474874 84876926 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882297,nsv882307 M 6533 0 2 "" IS31145,MS18978 dgv6204n71 5 84476840 84569510 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882299,nsv882298,nsv882301 M 6533 0 3 "" IS34395,IS34440,IS41909 nsv882300 5 84493893 84552170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582545 S 6533 0 1 "" IS35993 nsv462243 5 84509544 84552170 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538456 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00963 dgv6205n71 5 84509544 84665714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882305,nsv882303 M 6533 0 2 "" IS30539,IS35083 esv1107653 5 84525516 84525516 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127394 S 2 1 0 "" HuRef nsv882304 5 84527131 84585151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600232 S 6533 0 1 "" IS41862 nsv823117 5 84546616 84547240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432866 S 31 1 0 "" NA18972 esv270217 5 84551793 84551878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516137,essv2513819 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12873,NA19143 nsv882306 5 84570173 84769773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554604 S 6533 0 1 "" MS20872 esv271557 5 84580123 84580208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514702,essv2519320,essv2516346,essv2518171,essv2517766,essv2513988,essv2519358,essv2513680 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11894,NA12814,NA12872,NA12878,NA19143 esv274333 5 84580123 84580208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581102 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv6206n71 5 84602731 84665714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882309,nsv882308 M 6533 0 2 "" IS31617,MS16697 esv274026 5 84623416 84623770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580134,essv2579849,essv2580935,essv2579125 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239 dgv6207n71 5 84641203 84872834 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882310,nsv882311,nsv882312 M 6533 0 3 "" IS32607,IS33616,SP55878 nsv507270 5 84795931 84801931 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622945,nssv621804 M 4 2 0 "" NA10860,NA18994 nsv882313 5 84839267 85008644 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579708 S 6533 1 0 "" IS35167 esv1010096 5 84858574 84858643 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578105 S 3 0 1 "" HuRef esv1285387 5 84858576 84858646 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786777 S 2 0 1 "" HuRef esv275277 5 84950010 84966037 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585856 S 1250 0 1 "" esv2574505 5 84964855 84965826 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330962 S 1 1 0 "" NA18507 esv272928 5 84965514 84965693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581853,essv2582304 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv269960 5 84965514 84965850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575845,essv2546534,essv2521394,essv2526258,essv2536642,essv2522890,essv2570626,essv2576674,essv2550347,essv2547527,essv2529069,essv2564450,essv2577684,essv2561954,essv2537572,essv2528557,essv2540196,essv2557025,essv2552498,essv2551682,essv2532197,essv2578541,essv2537026,essv2538922,essv2527031,essv2561473,essv2523639,essv2552960,essv2540425,essv2524421,essv2539885,essv2565949,essv2529010,essv2541733,essv2570247,essv2566917,essv2542031,essv2550951,essv2569047,essv2528144,essv2578143,essv2572947,essv2567198,essv2555916,essv2522332,essv2543212,essv2572061,essv2575280,essv2560211,essv2549665,essv2571199,essv2545987,essv2574072,essv2551609,essv2554503 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11881,NA11894,NA11918,NA11920,NA11931,NA12044,NA12154,NA12234,NA12717,NA12749,NA12751,NA12761,NA12874,NA12878,NA12891,NA18489,NA18501,NA18502,NA18504,NA18505,NA18510,NA18517,NA18519,NA18522,NA18523,NA18537,NA18542,NA18552,NA18555,NA18563,NA18572,NA18579,NA18592,NA18593,NA18853,NA18856,NA18858,NA18861,NA18907,NA18940,NA18942,NA18947,NA18956,NA18960,NA18965,NA18973,NA19102,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv2422510 5 85034919 85205077 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161426 S 181 1 0 "" ND03704 esv1409944 5 85042089 85042089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995273 S 2 1 0 "" HuRef nsv329250 5 85042090 85042090 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347828 M 24 "" nsv327614 5 85112927 85120231 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346192 M 24 "" dgv6208n71 5 85131236 85285577 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882320,nsv882318,nsv882314,nsv882321,nsv882317 M 6533 0 8 "" IS31729,IS35018,IS35229,IS35743,IS39923,IS41094,MS18978,MS22104 nsv882315 5 85137618 85194407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568783,nssv1571112 M 6533 0 2 "" IS31338,IS32607 nsv882316 5 85137618 85230558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523445,nssv1578881,nssv1569960 M 6533 0 3 "" IS31758,IS34962,SP54030 nsv882319 5 85137618 85583099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594964,nssv1567947 M 6533 0 2 "" IS31179,IS40067 dgv6209n71 5 85155237 85347548 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882324,nsv882322,nsv882323 M 6533 0 3 "" IS31330,IS33786,IS39718 nsv507271 5 85161601 85167601 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617679 S 4 1 0 "" CHM nsv882325 5 85233946 85324681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555299 S 6533 0 1 "" MS21258 nsv509975 5 85239226 85245226 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621262,nssv623979,nssv618206,nssv622092 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1617263 5 85240902 85240902 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604974 S 2 1 0 "" HuRef dgv6210n71 5 85269933 85388982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882331,nsv882327,nsv882326 M 6533 0 4 "" IS31729,MS14737,MS18978,SP52694 dgv6211n71 5 85269933 85477752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882328,nsv882329 M 6533 0 2 "" IS35911,MS18847 nsv882330 5 85273596 85353999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597619 S 6533 0 1 "" IS41224 nsv882332 5 85273596 85583099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567190 S 6533 0 1 "" IS31046 nsv882333 5 85349803 85471132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591695 S 6533 0 1 "" IS39011 nsv882334 5 85380111 86190869 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529942 S 6533 1 0 COX7C,MIR3607,NBPF22P MS10126 esv1944398 5 85385607 85386070 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915581 S 1 0 1 "" NA18507 dgv6212n71 5 85408960 85501896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882335,nsv882336 M 6533 0 2 "" IS35189,IS36527 nsv882337 5 85408960 85608584 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550818 S 6533 0 1 "" MS18620 dgv6213n71 5 85425110 85583099 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882339,nsv882338 M 6533 0 2 "" IS33507,IS33786 nsv10713 5 85488846 85494535 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13346 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 esv1952008 5 85497888 85498260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774955 S 1 0 1 "" NA18507 nsv327400 5 85497994 85498043 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345978 M 24 "" esv1095730 5 85498055 85498105 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157873 S 2 0 1 "" HuRef dgv6214n71 5 85527586 85597339 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882342,nsv882340,nsv882343,nsv882341 M 6533 0 7 "" IS30967,IS31228,IS31563,IS35717,IS35771,IS36173,IS40368 nsv10714 5 85551422 85556425 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12379 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18572 esv26737 5 85591571 85633701 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13147,esv17535 M 451 3 0 NBPF22P NA11931,NA18511,NA19257 dgv6215n71 5 85616707 85695581 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882344,nsv882346 M 6533 0 2 NBPF22P IS40890,MS21771 nsv882345 5 85630451 85682856 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600632,nssv1535849 M 6533 2 0 "" IS41906,MS12509 dgv6216n71 5 85635230 85743188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882347,nsv882349,nsv882348 M 6533 0 5 "" IS30522,IS31046,IS40067,MS15199,MS18847 nsv882350 5 85642205 85782627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583890 S 6533 0 1 "" IS36722 nsv462245 5 85647747 85689961 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538457 S 1557 0 1 "" 1780862530_A nsv818355 5 85660173 85666781 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417483 S 112 1 0 "" NA12234 nsv882351 5 85682856 86239789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585225 S 6533 1 0 COX7C,MIR3607 IS37346 nsv509976 5 85710341 85716341 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623980 S 4 0 1 "" NA18994 esv1001640 5 85713147 85713147 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578458 S 3 1 0 "" HuRef nsv327420 5 85713149 85713149 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345998 M 24 "" esv1390094 5 85713164 85713164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961675 S 2 1 0 "" HuRef esv268556 5 85741375 85741672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513238 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18907 nsv882352 5 85743225 85942414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564863 S 6533 0 1 "" IS30311 esv2563889 5 85749814 85754951 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199731 S 1 0 1 "" NA18507 dgv201n6 5 85751276 85751351 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv330059,nsv329914 M 24 "" esv270047 5 85800696 85800824 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521112,essv2526181,essv2542424,essv2570829,essv2531708,essv2570660,essv2550422,essv2554065,essv2544300,essv2552071,essv2520423,essv2547515,essv2529145,essv2558349,essv2564657,essv2577910,essv2559542,essv2519991,essv2555045,essv2530797,essv2536259,essv2538140,essv2533001,essv2554646,essv2547921 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA11894,NA11918,NA11919,NA11993,NA12006,NA12044,NA12234,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12815,NA12872,NA12873 nsv830375 5 85827267 85986101 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444803 S 95 1 0 COX7C,MIR3607 nsv882353 5 86000448 86095155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600409 S 6533 0 1 "" IS41881 nsv830376 5 86020737 86220493 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444808,nssv1444804,nssv1444807,nssv1444805,nssv1444810,nssv1444809,nssv1444813,nssv1444812,nssv1444811,nssv1444814,nssv1444815 M 95 11 0 "" nsv830377 5 86126842 86330146 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444816 S 95 1 0 "" nsv511303 5 86149791 86157385 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625266 S 1 0 1 "" 1 dgv952n67 5 86150778 86153906 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823121,nsv823119,nsv823118,nsv823122 M 31 0 14 "" AK18,AK20,AK4,NA18526,NA18542,NA18564,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18973,NA18997 nsv820329 5 86150778 86153906 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420530 S 1 0 1 "" NA10851 esv24059 5 86150925 86153588 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20394 S 451 0 12 "" NA11995,NA12004,NA12006,NA12287,NA12414,NA12828,NA12878,NA18502,NA18508,NA18916,NA19108,NA19114 esv991086 5 86150988 86155468 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563684 S 3 0 1 "" HuRef dgv148e180 5 86151029 86153551 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv996478,esv1011125 M 3 0 1 "" HuRef nsv513246 5 86151034 86153639 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626751 S 1 0 1 "" 1 esv5749 5 86151088 86153625 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28190 S 1 0 1 "" SJK nsv442953 5 86151134 86154902 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514313 5 86151224 86153192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627758 S 1414 0 1 "" nsv507272 5 86231966 86237966 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622946,nssv617680,nssv620308,nssv621805 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv830378 5 86239653 86428724 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444818 S 95 0 1 "" esv2509596 5 86249202 86254630 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287679 S 1 0 1 "" NA18507 nsv328853 5 86250465 86251315 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347431 M 24 "" esv22590 5 86251273 86252960 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10604 S 451 1 0 "" NA07045 nsv329975 5 86252745 86252800 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348553 M 24 "" esv1328269 5 86252770 86252826 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757717 S 2 0 1 "" HuRef nsv509977 5 86259415 86265415 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622093,nssv618207,nssv621263,nssv623981 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv25711 5 86281754 86282878 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19381 S 451 0 15 "" NA07045,NA11894,NA12004,NA12044,NA12749,NA12776,NA12828,NA12878,NA18511,NA18523,NA18909,NA19147,NA19225,NA19240,NA19257 esv274422 5 86283411 86283730 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581977,essv2582497,essv2584293,essv2584700,essv2583557 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1212315 5 86351000 86351079 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189662 S 2 0 1 "" HuRef esv2469864 5 86351002 86351051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168637 S 1 0 1 "" NA18507 esv1297104 5 86351082 86351082 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980486 S 2 1 0 "" HuRef nsv523725 5 86367504 86386634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699541 S 2026 0 1 "" nsv523586 5 86375643 86386634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699376 S 2026 0 1 "" nsv462246 5 86375643 86388257 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538458 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00183 nsv329214 5 86405623 86408438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347792 M 24 "" esv268231 5 86408414 86408735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576108,essv2571802,essv2521450,essv2526160,essv2542592,essv2536389,essv2523025,essv2543885,essv2570916,essv2556723,essv2568128,essv2545277,essv2523335,essv2531789,essv2577492,essv2570684,essv2521640,essv2525284,essv2535321,essv2554146,essv2544380,essv2552252,essv2520537,essv2547328,essv2529391,essv2558306,essv2564412,essv2577739,essv2553868,essv2559662,essv2565521,essv2520017,essv2564315,essv2554986,essv2530788,essv2561889,essv2537490,essv2528478,essv2547013,essv2569544,essv2578563,essv2558870,essv2536920,essv2539003,essv2561575,essv2544819,essv2562959,essv2523919,essv2552854,essv2541259,essv2542901,essv2540381,essv2524404,essv2564959,essv2534641,essv2561179,essv2539844,essv2549382,essv2522196,essv2565991,essv2532473,essv2567902,essv2528885,essv2567537,essv2541539,essv2570216,essv2563609,essv2553250,essv2535766,essv2572209,essv2558961,essv2566889,essv2543571,essv2556154,essv2528130,essv2573246,essv2555192,essv2555516,essv2567157,essv2557634,essv2534229,essv2522455,essv2531609,essv2576969,essv2572093,essv2525599,essv2526912,essv2529632,essv2538707,essv2526532,essv2560640,essv2530353,essv2572820,essv2545210,essv2549811,essv2571441,essv2574142,essv2551575,essv2535945,essv2538003,essv2548751,essv2533377,essv2554559,essv2547867,essv2525051,essv2563206,essv2557820 M 157 107 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11840,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18508,NA18510,NA18516,NA18517,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18942,NA18943,NA18945,NA18947,NA18953,NA18959,NA18960,NA18961,NA18970,NA18973,NA18980,NA19005,NA19093,NA19108,NA19114,NA19116,NA19141,NA19143,NA19172,NA19225,NA19238,NA19240,NA19257 esv274261 5 86408421 86408740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584050,essv2583595 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1783771 5 86408451 86408451 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814045 S 2 1 0 "" HuRef nsv4908 5 86494807 86526793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10461 S 9 1 0 "" NA18956 nsv519140 5 86526049 86530513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696618 S 2026 1 0 "" nsv519817 5 86530513 86553999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658898,nssv677103 M 2026 0 2 "" nsv830379 5 86566448 86743263 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444819 S 95 1 0 CCNH,RASA1 esv2476522 5 86569731 86571192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163464 S 1 0 1 "" NA18507 esv1246124 5 86589293 86589293 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220850 S 2 1 0 "" HuRef nsv327831 5 86667018 86670109 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346409 M 24 RASA1 esv1067108 5 86865250 86865250 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236463 S 2 1 0 "" HuRef nsv882354 5 86892329 87008204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578079 S 6533 0 1 "" IS34658 esv4322 5 86893709 86893960 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26763 S 1 0 1 Single Asian sample YH "" YH nsv830380 5 86975926 87019533 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444820 S 95 1 0 "" nsv830382 5 86994014 87169419 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444821 S 95 0 1 "" esv274980 5 87057740 87064953 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585481 S 1250 0 1 "" nsv830383 5 87083859 87248346 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444822 S 95 1 0 "" esv6178 5 87086233 87086312 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28619 S 1 1 0 "" SJK nsv882355 5 87103437 87284603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598228 S 6533 0 1 "" IS41113 esv272169 5 87163406 87163714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580589 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv509978 5 87167332 87173332 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618208 S 4 0 1 "" CHM nsv4909 5 87298547 87331478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3366 S 9 1 0 "" NA12878 nsv4911 5 87308069 87339968 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2530 S 9 0 1 "" NA18555 nsv823123 5 87314881 87321239 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439918,nssv1440346 M 31 0 2 "" NA18547,NA18564 nsv499683 5 87314913 87327571 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585956 S 9 0 1 "" esv2447310 5 87363506 87365093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262676 S 1 0 1 "" NA18507 esv2218991 5 87364247 87364757 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816981 S 1 0 1 "" NA18507 esv4806 5 87364308 87364658 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27247 S 1 0 1 Single Asian sample YH "" YH nsv830384 5 87380049 87550906 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444823 S 95 1 0 TMEM161B nsv509979 5 87411639 87417639 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618209 S 4 0 1 "" CHM esv2545146 5 87413572 87418153 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224222 S 1 0 1 "" NA18507 esv1927154 5 87414439 87418018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847099 S 1 0 1 "" NA18507 dgv202n6 5 87414637 87417822 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv328133,nsv327522 M 24 "" esv25298 5 87414712 87417880 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19785 S 451 0 12 "" NA07045,NA11995,NA12044,NA12239,NA12489,NA12749,NA18861,NA18907,NA18909,NA19147,NA19225,NA19240 esv2469814 5 87415816 87417816 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166578 S 1 0 1 "" NA18507 nsv830385 5 87434637 87588640 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444824 S 95 1 0 TMEM161B esv2487059 5 87434928 87436018 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246985 S 1 1 0 "" NA18507 esv272466 5 87435546 87435893 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581388 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv269169 5 87435551 87435888 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526211,essv2570490,essv2576581,essv2550528,essv2552315,essv2547424,essv2576509,essv2519979,essv2520850,essv2557050,essv2532397,essv2569367,essv2539198,essv2527033,essv2523762,essv2534675,essv2549263,essv2519528,essv2566086,essv2531102,essv2532665,essv2567952,essv2572579,essv2559215,essv2566696,essv2550896,essv2569116,essv2556432,essv2528142,essv2562321,essv2539233,essv2534069,essv2578424,essv2555210,essv2529965,essv2527638,essv2531620,essv2543321,essv2571848,essv2525801,essv2526781,essv2529438,essv2575769,essv2538731,essv2526414,essv2560522,essv2524002,essv2574951,essv2530413,essv2568555,essv2545191,essv2549913,essv2574120,essv2551433,essv2563109 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11918,NA12044,NA12154,NA12155,NA12489,NA12717,NA12814,NA12815,NA18498,NA18501,NA18505,NA18508,NA18519,NA18522,NA18537,NA18561,NA18564,NA18566,NA18572,NA18573,NA18576,NA18577,NA18609,NA18638,NA18853,NA18858,NA18861,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18949,NA18952,NA18961,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19225,NA19240,NA19257 esv2354840 5 87443707 87444141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520300 S 1 0 1 "" NA18507 nsv329205 5 87742726 87747213 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347783 M 24 LOC100505894 esv2596405 5 87823786 87825380 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254124 S 1 0 1 "" NA18507 nsv882356 5 87867883 88000170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579114 S 6533 0 1 LINC00461,MIR9-2 IS35018 esv1285105 5 87946778 87946831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721136 S 2 0 1 LINC00461 HuRef nsv524630 5 87986493 88039857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700593 S 2026 0 1 LINC00461,MIR9-2 nsv515977 5 88004620 88039857 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668740,nssv696769,nssv669813,nssv705358,nssv692763,nssv665567,nssv658392,nssv667297,nssv669567 M 2026 1 8 LINC00461 esv4987 5 88067736 88068206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27428 S 1 0 1 Single Asian sample YH MEF2C YH esv5444 5 88067780 88068098 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27885 S 1 0 1 MEF2C SJK esv993574 5 88067782 88068111 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570069 S 3 0 1 MEF2C HuRef esv1049510 5 88067785 88068115 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764800 S 2 0 1 MEF2C HuRef esv4948 5 88078823 88079290 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27389 S 1 0 1 Single Asian sample YH MEF2C YH esv1006875 5 88078894 88079221 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566414 S 3 0 1 MEF2C HuRef esv1739252 5 88078900 88079228 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047974 S 2 0 1 MEF2C HuRef nsv329625 5 88078911 88079237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348203 M 24 MEF2C esv8549 5 88078917 88079221 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30990 S 1 0 1 MEF2C SJK nsv471022 5 88100886 88286892 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545133 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MEF2C HGDP01034 nsv527694 5 88278462 88283022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704172 S 2026 0 1 "" nsv830386 5 88281667 88456338 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444825 S 95 1 0 "" esv272396 5 88328054 88328356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581995,essv2582502,essv2582829,essv2584232,essv2583484 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv272963 5 88386252 88386475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580618,essv2579716 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv830387 5 88583618 88718198 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444826 S 95 1 0 "" esv274149 5 88590780 88594657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581393 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv830388 5 88614695 88829626 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444827 S 95 1 0 "" esv2520121 5 88641622 88643610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269222 S 1 0 1 "" NA18507 nsv830389 5 88705740 88896139 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444834,nssv1444836,nssv1444829,nssv1444833,nssv1444832,nssv1444835,nssv1444830,nssv1444831 M 95 8 0 "" dgv6217n71 5 88713049 88811790 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882357,nsv882358 M 6533 0 2 "" IS30742,IS31285 dgv6218n71 5 88746275 88821140 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882360,nsv882359 M 6533 0 2 "" IS35993,IS40657 nsv528738 5 88840595 88844350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705394 S 2026 0 1 "" nsv327649 5 88896316 88896316 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346227 M 24 "" nsv528583 5 88938301 88938581 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705204 S 2026 1 0 "" nsv830390 5 89090358 89272339 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444837 S 95 0 1 "" esv2576450 5 89204016 89205243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285372 S 1 0 1 "" NA18507 nsv882361 5 89338471 89392915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515869 S 6533 0 1 MIR3660 SP56301 esv991843 5 89432303 89437102 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563894 S 3 1 0 "" HuRef esv2449058 5 89458033 89459585 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273216 S 1 0 1 "" NA18507 nsv4912 5 89464207 89503250 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2532,nssv3367,nssv11106,nssv6011,nssv4850,nssv480 M 9 6 0 "" NA12156,NA12878,NA15510,NA18555,NA19129,NA19240 nsv509075 5 89465951 89487141 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618041,nssv623448,nssv620827,nssv619418 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv273 5 89472164 89487593 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv273 S 1 1 0 "" NA15510 nsv882362 5 89473719 89640136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551112 S 6533 1 0 "" MS18784 esv994920 5 89486054 89487849 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563929 S 3 1 0 "" HuRef esv272981 5 89486507 89492593 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584780,essv2583765 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270069 5 89486507 89492626 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557969,essv2565720,essv2576038,essv2541064,essv2571650,essv2546577,essv2521363,essv2526212,essv2542425,essv2536516,essv2523043,essv2544199,essv2571045,essv2556602,essv2568247,essv2545651,essv2523297,essv2532030,essv2577327,essv2570671,essv2548501,essv2521522,essv2576529,essv2550577,essv2525339,essv2550466,essv2535365,essv2554304,essv2544294,essv2552120,essv2520683,essv2547455,essv2529166,essv2558473,essv2564727,essv2578039,essv2565430,essv2576283,essv2520107,essv2530816,essv2562063,essv2537402,essv2528263,essv2546783,essv2540130,essv2520959,essv2557518,essv2556856,essv2552731,essv2551829,essv2532389,essv2569293,essv2578523,essv2550247,essv2558851,essv2537095,essv2539085,essv2569764,essv2527179,essv2561576,essv2544849,essv2563067,essv2523862,essv2553043,essv2541108,essv2538372,essv2542742,essv2540269,essv2524576,essv2565207,essv2534643,essv2561277,essv2539593,essv2549459,essv2519707,essv2560044,essv2521998,essv2566233,essv2531217,essv2532551,essv2567894,essv2528838,essv2567460,essv2541767,essv2570227,essv2563906,essv2553280,essv2535652,essv2572421,essv2559068,essv2566842,essv2542023,essv2551008,essv2569176,essv2543550,essv2556418,essv2528044,essv2562431,essv2539312,essv2534150,essv2578202,essv2572964,essv2555424,essv2533650,essv2555751,essv2567043,essv2566662,essv2530130,essv2527478,essv2557623,essv2556051,essv2534495,essv2522363,essv2531412,essv2573350,essv2543176,essv2576932,essv2572133,essv2525578,essv2526937,essv2529673,essv2575478,essv2575018,essv2538619,essv2526524,essv2560582,essv2524236,essv2574770,essv2530361,essv2568634,essv2545154,essv2560219,essv2548148,essv2549674,essv2571291,essv2545953,essv2574531,essv2551407,essv2536162,essv2537865,essv2548739,essv2533098,essv2554639,essv2547783,essv2525106,essv2563303 M 157 146 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 nsv823124 5 89486528 89487493 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426658 S 31 1 0 "" AK6 esv1399496 5 89486537 89486537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263646 S 2 1 0 "" HuRef nsv830391 5 89492338 89676951 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444840,nssv1444838 M 95 0 2 "" nsv830393 5 89535400 89694249 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444841 S 95 1 0 "" nsv509980 5 89674694 89680694 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623982 S 4 0 1 "" NA18994 nsv882363 5 89679155 89761271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556304 S 6533 0 1 CETN3 MS21905 nsv518131 5 89783898 89817350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694061 S 2026 0 1 MBLAC2,POLR3G nsv882364 5 89783898 89844287 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512593 S 6533 1 0 MBLAC2,POLR3G SP55558 nsv882365 5 89806524 89918374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520598 S 6533 1 0 GPR98,LYSMD3,POLR3G SP51172 nsv823125 5 89845935 89846583 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432867 S 31 0 1 POLR3G NA18972 nsv882366 5 89862482 89930320 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512594 S 6533 1 0 GPR98 SP55558 esv2582955 5 89895887 89897398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331159 S 1 0 1 GPR98 NA18507 esv2380444 5 89896006 89896697 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825809 S 1 0 1 GPR98 NA18507 esv2897 5 89896114 89896572 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25338 S 1 0 1 Single Asian sample YH GPR98 YH esv5955 5 89896146 89896508 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28396 S 1 0 1 GPR98 SJK esv1230251 5 89896191 89896512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276300 S 2 0 1 GPR98 HuRef nsv882367 5 89992747 90245580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513276 S 6533 0 1 GPR98 SP55715 nsv882368 5 90026080 90048135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567948,nssv1577554 M 6533 0 2 GPR98 IS31179,IS34489 nsv522663 5 90031559 90034210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706065 S 2026 0 1 GPR98 esv273521 5 90033378 90033737 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581009 S 7 1 0 Samples from several populations that are part of the HapMap project. GPR98 NA19238 esv268961 5 90033553 90033721 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506759,essv2495438,essv2508057,essv2513197,essv2493339,essv2511787,essv2510667,essv2504227,essv2506117,essv2508767,essv2513007,essv2497155,essv2497790,essv2500061,essv2499937,essv2507799,essv2506333,essv2494480,essv2512649,essv2508136,essv2508659,essv2499289,essv2501547,essv2507449,essv2501071,essv2505774,essv2495603,essv2511684,essv2511135,essv2497886,essv2503547,essv2502372,essv2512373,essv2500540,essv2502657,essv2500759,essv2512813,essv2506691,essv2509567,essv2496910,essv2493838,essv2511939 M 157 42 0 Samples from several populations that are part of the HapMap project. GPR98 NA11918,NA11919,NA12045,NA12249,NA12776,NA18499,NA18501,NA18505,NA18523,NA18532,NA18547,NA18552,NA18555,NA18558,NA18562,NA18564,NA18566,NA18572,NA18577,NA18579,NA18592,NA18605,NA18608,NA18638,NA18856,NA18861,NA18916,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18956,NA18965,NA18973,NA18980,NA19108,NA19129,NA19190,NA19210,NA19238 nsv517049 5 90038887 90298231 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684629,nssv653689,nssv674060,nssv692598,nssv677927,nssv654017 M 2026 3 3 GPR98 nsv328817 5 90177807 90177924 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347395 M 24 GPR98 esv271499 5 90214454 90214565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494932,essv2507217,essv2504767,essv2502030 M 157 4 0 Samples from several populations that are part of the HapMap project. GPR98 NA18520,NA18870,NA19099,NA19257 nsv462247 5 90285656 90334388 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538459 S 1557 0 1 GPR98 1780854061_A nsv882369 5 90311581 90379905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568537 S 6533 0 1 GPR98 IS31302 nsv4913 5 90364946 90366393 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10462 S 9 1 0 GPR98 NA18956 nsv515529 5 90449107 90449321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663838,nssv677414,nssv662664 M 2026 0 3 GPR98 esv274375 5 90458613 90458698 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581448 S 7 1 0 Samples from several populations that are part of the HapMap project. GPR98 NA12878 nsv508369 5 90522773 90554296 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617513 S 4 0 1 "" CHM esv2475586 5 90533944 90538642 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189810 S 1 0 1 "" NA18507 esv994472 5 90534587 90544697 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564796 S 3 0 1 "" HuRef nsv511299 5 90534790 90541273 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625221 S 1 0 1 "" 1 nsv819911 5 90534972 90539594 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419649 S 2 1 0 "" AK1 esv2643113 5 90535305 90538926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359682 S 1 0 1 "" NA18507 esv2140706 5 90535339 90538038 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621203 S 1 0 1 "" NA18507 nsv513247 5 90535484 90537890 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626752 S 1 0 1 "" 1 esv4359 5 90535501 90538043 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26800 S 1 0 1 Single Asian sample YH "" YH esv6513 5 90535523 90537862 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28954 S 1 0 1 "" SJK esv1003339 5 90535526 90537120 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586610 S 3 1 0 "" HuRef dgv953n67 5 90535526 90537843 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823126,nsv823127 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv25955 5 90535526 90537843 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17204 S 451 18 0 "" NA06985,NA12006,NA12749,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv821146 5 90535526 90537843 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420531 S 1 0 1 "" NA10851 esv998635 5 90536446 90537791 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586841 S 3 1 0 "" HuRef nsv823128 5 90536446 90537791 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425758 S 31 0 1 "" AK4 esv2438310 5 90609447 90611127 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376694 S 1 0 1 "" NA18507 esv1961350 5 90610275 90610949 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967511 S 1 0 1 "" NA18507 esv3170 5 90610403 90610842 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25611 S 1 0 1 Single Asian sample YH "" YH nsv329121 5 90610450 90610742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347699 M 24 "" esv1454337 5 90610458 90610751 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923745 S 2 0 1 "" HuRef nsv441956 5 90650176 90656821 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421594 5 90650176 90656825 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096116,essv5131574,essv5009809,essv5060801,essv5126026,essv5095596,essv5093679,essv5040274,essv5110168,essv5133922,essv5050255,essv5140302,essv5056561,essv5090945,essv5017421,essv5113173,essv5074345,essv5003831,essv5125742,essv5006005,essv5092728,essv5086095 M 1184 0 22 "" NA18862,NA18863,NA18867,NA18916,NA18934,NA18935,NA19041,NA19130,NA19150,NA19151,NA19207,NA19208,NA19319,NA19455,NA19469,NA19819,NA20281,NA20288,NA20348,NA21573,NA21577,NA21776 nsv514314 5 90650512 90656720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627760 S 1414 0 1 "" esv23400 5 90654320 90659702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21145 S 451 0 1 "" NA18916 esv29924 5 90660057 90661634 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15538 S 451 0 3 "" NA18517,NA19240,NA19257 esv1034918 5 90693848 90693848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801572 S 2 1 0 "" HuRef esv1784365 5 90693849 90693906 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601762 S 2 0 1 "" HuRef esv1018893 5 90793642 90793642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956321 S 2 1 0 "" HuRef esv1006947 5 90832406 90838301 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564749 S 3 0 1 "" HuRef esv272276 5 90855012 90855351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580801 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269907 5 90855022 90855367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540773,essv2526259,essv2556657,essv2570616,essv2548484,essv2521645,essv2550790,essv2552257,essv2520609,essv2558630,essv2564596,essv2553849,essv2576371,essv2564209,essv2561759,essv2528309,essv2569317,essv2539016,essv2523786,essv2542670,essv2559192,essv2550864,essv2543430,essv2555586,essv2573999,essv2546065,essv2574498,essv2551425,essv2537792,essv2548913,essv2533296,essv2524900 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07357,NA11831,NA11918,NA11994,NA12044,NA12045,NA12144,NA12155,NA12489,NA12716,NA12750,NA12751,NA12763,NA12814,NA12828,NA12874,NA12891,NA18508,NA18519,NA18537,NA18550,NA18638,NA18858,NA18870,NA18945,NA18951,NA19239,NA19240,NA19257 esv1010942 5 90902827 90902827 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570445 S 3 1 0 "" HuRef esv1675475 5 90902828 90902828 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3717140 S 2 1 0 "" HuRef dgv80n68 5 90979805 91171028 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv830395,nsv830394 M 95 4 0 "" nsv882370 5 91021937 91323193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564864 S 6533 0 1 "" IS30311 nsv882371 5 91053808 91128676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598329 S 6533 0 1 "" IS41224 nsv882372 5 91053808 91257403 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569883 S 6533 0 1 "" IS31729 esv271891 5 91066741 91066966 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512503,essv2504292,essv2509697,essv2496257,essv2494775,essv2509052,essv2506234,essv2501002,essv2494008,essv2509150,essv2495639,essv2498684,essv2497611,essv2510492,essv2496906,essv2493835,essv2499713,essv2512016,essv2498223 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18505,NA18508,NA18511,NA18519,NA18522,NA18523,NA18856,NA18871,NA18909,NA18916,NA19138,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19240 esv274493 5 91066755 91067078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581896,essv2582746,essv2582988,essv2584022,essv2584395,essv2583756 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv830396 5 91157111 91378992 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444846 S 95 0 1 "" dgv6219n71 5 91180414 91323193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882373,nsv882374 M 6533 0 2 "" IS36219,MS13292 nsv882375 5 91180414 91419604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582340 S 6533 0 1 "" IS35911 nsv527762 5 91190974 91191289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704249 S 2026 0 1 "" nsv830397 5 91249677 91432400 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444847 S 95 0 1 "" esv2554556 5 91282539 91283859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304662 S 1 0 1 "" NA18507 nsv4914 5 91292625 91338337 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3368 S 9 0 1 "" NA12878 nsv471023 5 91311068 91512802 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545134 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv882376 5 91402978 91561724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600668 S 6533 0 1 "" IS41909 nsv462248 5 91413585 91443472 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538460 S 1557 0 1 "" NINDS_183 esv1540366 5 91453034 91453034 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711940 S 2 1 0 "" HuRef nsv819631 5 91471356 91472300 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419132 S 2 0 1 "" AK1 nsv882377 5 91476771 91537859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513188 S 6533 0 1 "" SP55694 nsv882378 5 91512802 91637248 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549410,nssv1548321 M 6533 0 2 "" MS17802,MS18217 esv2460826 5 91516245 91517941 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294356 S 1 0 1 "" NA18507 esv2080771 5 91516340 91517088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914505 S 1 0 1 "" NA18507 esv5258 5 91516460 91516947 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27699 S 1 0 1 Single Asian sample YH "" YH esv5477 5 91516541 91516883 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27918 S 1 0 1 "" SJK esv2370227 5 91621824 91622267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511325 S 1 0 1 "" NA18507 esv7943 5 91725258 91725356 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30384 S 1 1 0 "" SJK esv1010706 5 91725293 91725293 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584294 S 3 1 0 "" HuRef esv1398861 5 91725294 91725294 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194424 S 2 1 0 "" HuRef nsv329591 5 91725295 91725295 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348169 M 24 "" nsv4915 5 91861829 91902083 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8120 S 9 0 1 "" NA12156 nsv4916 5 91924725 91960075 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3369 S 9 1 0 "" NA12878 nsv882379 5 91964461 92090288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565791 S 6533 0 1 "" IS30522 esv259888 5 91974002 91974902 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400032,essv2395402,essv2399606 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12749,NA12761 esv1010934 5 91974164 91974748 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587211 S 3 1 0 "" HuRef esv267704 5 91999662 91999781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510676,essv2505753,essv2497059 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18861,NA19190 nsv462249 5 92034039 92079905 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538461 S 1557 0 1 "" 1780854061_A nsv882380 5 92038194 92090288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591696 S 6533 0 1 "" IS39011 nsv528282 5 92050388 92065977 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704852 S 2026 0 1 "" nsv462251 5 92050388 92095164 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538462 S 1557 1 0 "" 1780862207_A nsv830398 5 92128582 92307087 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444848 S 95 1 0 "" nsv823129 5 92248728 92306549 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438821 S 31 0 1 "" NA18973 esv1005367 5 92259948 92261897 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564950 S 3 1 0 "" HuRef nsv4917 5 92314390 92320142 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10463 S 9 1 0 "" NA18956 nsv830399 5 92316671 92488246 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444849 S 95 0 1 "" esv2289962 5 92331007 92331414 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550952 S 1 0 1 "" NA18507 esv2630768 5 92331194 92331246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298226 S 1 0 1 "" NA18507 dgv81n68 5 92540782 92764652 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv830400,nsv830401 M 95 8 0 "" nsv508370 5 92565538 92600997 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622528 S 4 0 1 "" NA18994 nsv462252 5 92583725 92621695 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538463 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00886 nsv462253 5 92583725 92637414 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538464 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00143 nsv507273 5 92592225 92598225 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621806,nssv617681 M 4 2 0 "" CHM,NA10860 nsv882381 5 92602250 92675472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597846 S 6533 0 1 "" IS41263 esv270729 5 92721511 92721827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509078,essv2496966 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19190 nsv830402 5 92729657 92873101 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444862,nssv1444861,nssv1444864 M 95 3 0 FLJ42709 nsv882382 5 92879401 92916785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506584 S 6533 0 1 FLJ42709 SP54381 nsv830404 5 92894092 93074013 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444865 S 95 0 1 FAM172A,FLJ42709,MIR2277,NR2F1 nsv882383 5 92921157 92954102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510703 S 6533 0 1 FLJ42709,NR2F1 SP54988 dgv954n67 5 92922102 92995424 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823132,nsv823130 M 31 2 0 FAM172A,FLJ42709,MIR2277,NR2F1 AK10,NA18968 nsv4918 5 92924182 92969115 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8121 S 9 0 1 FLJ42709,NR2F1 NA12156 esv23147 5 92945550 92946728 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13340 S 451 0 1 NR2F1 NA12414 nsv823133 5 93075006 93077640 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435084 S 31 0 1 FAM172A NA18942 nsv830405 5 93112581 93284274 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444866 S 95 0 1 FAM172A nsv882384 5 93162417 93405879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594304 S 6533 0 1 FAM172A IS39783 nsv327963 5 93534161 93543711 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346541 M 24 KIAA0825 esv2138679 5 93534427 93534871 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843568 S 1 0 1 KIAA0825 NA18507 nsv830406 5 93540085 93709268 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444867 S 95 1 0 KIAA0825 nsv882385 5 93615365 93723608 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541725 S 6533 0 1 KIAA0825 MS15479 nsv823134 5 93619650 93690293 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438822 S 31 0 1 KIAA0825 NA18973 dgv347n21 5 93668926 93815065 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523867,nsv518161 M 2026 0 2 KIAA0825 nsv4919 5 93687335 93707155 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8122 S 9 0 1 KIAA0825 NA12156 esv32708 5 93699656 93699817 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95172,essv95464 M 51 2 0 KIAA0825 21721,21847 dgv1816e1 5 93790961 93969969 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7421,essv3398 M 271 0 0 KIAA0825 NA18623,NA18945 dgv1817e1 5 93790961 94067957 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv222,essv16527,essv10306,essv10902,essv8845,essv658,essv18201,essv1828,essv1473,essv3065,essv6120,essv24484,essv19783,essv19902,essv88,essv1271,essv23241,essv11835,essv7130,essv12508,essv22174,essv6727,essv7549,essv20229,essv16120,essv15245,essv18582,essv22350,essv24792,essv21149,essv14305,essv4451,essv13629,essv21802,essv6032,essv127,essv15126,essv471,essv19607,essv5408,essv16451,essv4174,essv6641,essv4820,essv15560,essv12324,essv7324,essv6811,essv19426,essv3079,essv23207,essv9189,essv14769,essv11535,essv3296,essv22899,essv20203,essv9408,essv6985,essv23377,essv23822,essv4025,esv19,essv6241,essv5030,essv20577,essv20944,essv4970,essv4633,essv13067,essv9358,essv14379,essv24526,essv4373,essv13839,essv20014,essv3973,essv17819,essv9870,essv10679,essv19249,essv23078,essv8319,essv24834,essv8330,essv17583,essv16937,essv11699,essv13017,essv800,essv23958,essv17168,essv14087,essv16705,essv16913,essv18105,essv9778,essv19558,essv18359,essv16227,essv21996,essv21387,essv15693,essv7790,essv18277,essv21190,essv9704,essv7724,essv21536,essv12556,essv2332,essv17971,essv20394,essv24157,essv4739,essv15898,essv23663,essv12658,essv14149,essv13548,essv2844,essv18976,essv4246,essv11190,essv2210,essv11046,essv23574,essv3777,essv3526,essv2287,essv6354,essv2663,essv22183,essv15536,essv14535,essv375 M 271 0 0 ANKRD32,KIAA0825 NA06985,NA07000,NA07029,NA07048,NA07056,NA10830,NA10831,NA10835,NA10838,NA10846,NA10847,NA10857,NA10860,NA10863,NA11830,NA11832,NA11840,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12044,NA12056,NA12057,NA12144,NA12155,NA12156,NA12234,NA12239,NA12740,NA12750,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12873,NA18500,NA18505,NA18506,NA18507,NA18508,NA18521,NA18532,NA18537,NA18540,NA18545,NA18552,NA18555,NA18558,NA18563,NA18570,NA18571,NA18573,NA18576,NA18579,NA18594,NA18603,NA18608,NA18609,NA18612,NA18620,NA18621,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18861,NA18863,NA18912,NA18913,NA18940,NA18944,NA18948,NA18952,NA18953,NA18956,NA18960,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18975,NA18976,NA18981,NA18991,NA18995,NA19094,NA19098,NA19100,NA19103,NA19127,NA19128,NA19129,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19144,NA19145,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19194,NA19202,NA19205,NA19207,NA19208,NA19209,NA19210,NA19211,NA19223 dgv1818e1 5 93886642 94067957 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2465,essv11884 M 271 0 0 ANKRD32,KIAA0825 NA18999,NA19221 nsv823135 5 93927451 93932768 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434422,nssv1426052 M 31 2 0 KIAA0825 NA18570,NA18968 nsv10715 5 93927706 93934218 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15923,nssv14039,nssv13655,nssv12581,nssv13580,nssv13798,nssv14559,nssv15614,nssv13545,nssv14491,nssv13644,nssv14043,nssv13382,nssv13307,nssv13926,nssv13876,nssv14044 M 31 0 17 Samples from several populations that are part of the HapMap project. KIAA0825 NA07029,NA07048,NA10839,NA10847,NA10863,NA12740,NA12872,NA18517,NA18537,NA18552,NA18563,NA18853,NA18972,NA18975,NA19144,NA19173,NA19240 dgv955n67 5 93928696 93932030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823136,nsv823137 M 31 0 3 KIAA0825 AK10,AK16,AK2 nsv820630 5 93928696 93932217 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420532 S 1 1 0 KIAA0825 NA10851 nsv819118 5 93929031 93934299 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419697 S 2 0 1 KIAA0825 AK1 esv29725 5 93929142 93932768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15901 S 451 0 2 KIAA0825 NA19190,NA19257 dgv956n67 5 93929528 93932030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823139,nsv823138 M 31 0 4 KIAA0825 AK12,AK20,AK4,AK8 esv1713122 5 93929739 93930732 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832332 S 2 0 0 KIAA0825 HuRef nsv823140 5 93930379 93931526 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429802 S 31 0 1 KIAA0825 AK14 nsv823141 5 93930379 93932030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426660 S 31 0 1 KIAA0825 AK6 nsv513248 5 93941656 93942631 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626753 S 1 0 1 KIAA0825 1 esv2534212 5 93941776 93943490 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341460 S 1 0 1 KIAA0825 NA18507 esv2382280 5 93941849 93942588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691028 S 1 0 1 KIAA0825 NA18507 esv5260 5 93942022 93942692 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27701 S 1 0 1 Single Asian sample YH KIAA0825 YH esv5853 5 93942049 93942391 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28294 S 1 0 1 KIAA0825 SJK nsv327822 5 93942056 93942392 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346400 M 24 KIAA0825 nsv518269 5 93969574 93975426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695700 S 2026 0 1 KIAA0825 nsv462254 5 93982693 94082581 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538465 S 1557 0 1 ANKRD32,MCTP1 NINDS_145 esv7536 5 93983843 93983939 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29977 S 1 1 0 ANKRD32 SJK nsv882386 5 93998933 94034725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582823 S 6533 0 1 ANKRD32 IS36173 nsv435825 5 94003933 94010270 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466230 S 2 0 1 ANKRD32 NA15510 nsv882387 5 94027232 94097160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532665 S 6533 0 1 ANKRD32,MCTP1 MS10802 nsv4920 5 94028224 94061433 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2533 S 9 1 0 ANKRD32 NA18555 esv2648135 5 94134240 94135817 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283434 S 1 0 1 MCTP1 NA18507 esv2133594 5 94135255 94135920 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546327 S 1 0 1 MCTP1 NA18507 esv5176 5 94135323 94135829 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27617 S 1 0 1 Single Asian sample YH MCTP1 YH esv8917 5 94135397 94135711 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31358 S 1 0 1 MCTP1 SJK nsv823144 5 94197993 94238290 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438823 S 31 0 1 MCTP1 NA18973 nsv327898 5 94271651 94271651 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346476 M 24 MCTP1 nsv329198 5 94312424 94313631 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347776 M 24 MCTP1 nsv509981 5 94395510 94401510 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623983,nssv622094,nssv618210,nssv621264 M 4 0 4 MCTP1 CHM,NA10860,NA15510,NA18994 nsv830407 5 94473286 94521085 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444868,nssv1444869 M 95 1 1 MCTP1 nsv327439 5 94484748 94484800 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346017 M 24 MCTP1 nsv509076 5 94562855 94578413 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619419,nssv623449 M 4 2 0 MCTP1 NA10860,NA18994 nsv511111 5 94562855 94594186 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621585,nssv618647 M 4 0 0 MCTP1 CHM,NA15510 nsv4922 5 94564301 94581182 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9672,nssv481,nssv6012,nssv3370,nssv10464 M 9 5 0 MCTP1 NA12156,NA12878,NA18507,NA18956,NA19240 esv1002880 5 94571049 94579002 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564597 S 3 1 0 MCTP1 HuRef dgv49n47 5 94575737 94575802 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499489,nsv499516 M 9 2 0 MCTP1 nsv474962 5 94575737 94575802 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557978 S 9 1 0 Samples from several populations that are part of the HapMap project. MCTP1 NA18956 esv2515116 5 94643020 94644425 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332165 S 1 0 1 MCTP1 NA18507 esv273083 5 94660964 94661077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580265,essv2579175,essv2579721 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv271293 5 94660988 94661110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494172,essv2493166,essv2493694,essv2494931,essv2495609,essv2506711,essv2509640,essv2512105 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517,NA18520,NA18916,NA19108,NA19129,NA19238 esv2234275 5 94674509 94674938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659619 S 1 0 1 "" NA18507 esv5244 5 94674510 94674981 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27685 S 1 0 1 Single Asian sample YH "" YH esv991069 5 94674635 94674725 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576486 S 3 0 1 "" HuRef esv1477822 5 94674716 94674807 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3898594 S 2 0 1 "" HuRef esv2634786 5 94770185 94771260 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179006 S 1 1 0 FAM81B NA18507 nsv882388 5 94789762 94951605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578325 S 6533 0 1 ARSK,FAM81B,TTC37 IS34758 nsv830408 5 94919788 94941751 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444871,nssv1444870,nssv1444876,nssv1444872,nssv1444873,nssv1444875,nssv1444877,nssv1444878 M 95 0 8 ARSK nsv823145 5 94981753 94983020 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429804 S 31 1 0 GPR150 AK14 esv27306 5 94981995 94982660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10492 S 451 0 2 GPR150 NA12414,NA18511 nsv507274 5 95018809 95024809 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620309,nssv617682 M 4 2 0 SPATA9 CHM,NA15510 esv2513210 5 95019478 95020543 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331691 S 1 1 0 SPATA9 NA18507 esv273462 5 95019914 95020080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580653 S 7 1 0 Samples from several populations that are part of the HapMap project. SPATA9 NA19238 esv267864 5 95019947 95020273 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557809,essv2565900,essv2540762,essv2546216,essv2542558,essv2522930,essv2545319,essv2531832,essv2577242,essv2550282,essv2534997,essv2554074,essv2544267,essv2552056,essv2520586,essv2547590,essv2564543,essv2520248,essv2555068,essv2537514,essv2528483,essv2546999,essv2557392,essv2556991,essv2552715,essv2532211,essv2562595,essv2569552,essv2544674,essv2562952,essv2523499,essv2552879,essv2538313,essv2542612,essv2540354,essv2561193,essv2519571,essv2559969,essv2566017,essv2532823,essv2567954,essv2563922,essv2553227,essv2535853,essv2543778,essv2578155,essv2572946,essv2555301,essv2533496,essv2557629,essv2556037,essv2531367,essv2525680,essv2560760,essv2549889,essv2537780,essv2548738,essv2525128,essv2563256 M 157 59 0 Samples from several populations that are part of the HapMap project. SPATA9 NA07000,NA07037,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11919,NA11931,NA12003,NA12006,NA12043,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12751,NA12815,NA12872,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18562,NA18566,NA18570,NA18572,NA18576,NA18577,NA18603,NA18605,NA18608,NA18870,NA18940,NA18942,NA18943,NA18944,NA18953,NA18956,NA18961,NA18980,NA19116,NA19225 esv1052640 5 95019976 95019976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130404 S 2 1 0 SPATA9 HuRef nsv830409 5 95032442 95230252 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444879 S 95 1 0 C5orf27,GLRX,RHOBTB3,SPATA9 nsv462255 5 95168573 95193911 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538466 S 1557 0 1 GLRX NINDS_229 nsv882389 5 95170708 95199643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577824 S 6533 0 1 GLRX IS34573 esv997566 5 95193279 95193535 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564726 S 3 1 0 "" HuRef dgv1819e1 5 95257462 95566189 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7453,esv569,essv6940 M 271 0 0 ELL2,MIR583 NA18582 esv1457060 5 95288868 95288868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174116 S 2 1 0 ELL2 HuRef nsv823146 5 95326668 95479313 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424210 S 31 1 0 MIR583 NA18582 esv34203 5 95336741 95478080 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990389,essv6979626 M 771 1 0 MIR583 NA18582 nsv10718 5 95345196 95347186 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15870 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv2458626 5 95351076 95352620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219379 S 1 0 1 "" NA18507 esv268177 5 95356604 95356855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510544,essv2494156,essv2504150,essv2503055,essv2494694,essv2509002,essv2504842,essv2497453 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18505,NA18507,NA18519,NA18522,NA19099,NA19147 esv2488318 5 95368382 95370089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392735 S 1 0 1 "" NA18507 esv2355249 5 95368876 95369626 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4683559 S 1 0 1 "" NA18507 esv3006 5 95369024 95369475 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25447 S 1 0 1 Single Asian sample YH "" YH dgv203n6 5 95369068 95369436 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327502,nsv330040 M 24 "" esv1003320 5 95369075 95369428 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573772 S 3 0 1 "" HuRef esv1282360 5 95369082 95369436 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699946 S 2 0 1 "" HuRef esv6304 5 95369085 95369420 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28745 S 1 0 1 "" SJK dgv348n21 5 95373542 95450955 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522097,nsv522465 M 2026 0 2 MIR583 esv268530 5 95417664 95417749 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514385 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv270142 5 95419990 95420280 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503216,essv2495416,essv2511175,essv2495267,essv2512264,essv2513157,essv2510357,essv2495846,essv2503826,essv2493472,essv2503971,essv2513031 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11881,NA11919,NA11931,NA11992,NA12155,NA12249,NA12414,NA12489,NA12761,NA12763 nsv4923 5 95421092 95454875 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3371 S 9 1 0 MIR583 NA12878 nsv882390 5 95512696 95617336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567192 S 6533 0 1 "" IS31046 nsv830410 5 95531555 95692066 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444881,nssv1444880,nssv1444883,nssv1444882 M 95 4 0 "" nsv518730 5 95573301 95595325 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696180 S 2026 0 1 "" esv1338369 5 95728824 95728824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824564 S 2 1 0 "" HuRef nsv507275 5 95854933 95860933 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617683,nssv621807,nssv620310,nssv622947 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv512855 5 95877321 95878101 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625496 S 1 1 0 "" 1 esv2534303 5 95934567 95936192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217417 S 1 0 1 "" NA18507 esv2192082 5 95935279 95936036 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597305 S 1 0 1 "" NA18507 esv4486 5 95935424 95935871 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26927 S 1 0 1 Single Asian sample YH "" YH esv1423990 5 95935487 95935833 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884766 S 2 0 1 "" HuRef esv6289 5 95935488 95935815 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28730 S 1 0 1 "" SJK nsv528714 5 95936221 95947285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705364 S 2026 0 1 "" esv2552626 5 95991748 95993636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265804 S 1 0 1 "" NA18507 esv28498 5 95992372 95992915 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16953 S 451 0 1 "" NA12004 nsv509982 5 96025901 96031901 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618211 S 4 0 1 CAST CHM nsv830411 5 96070924 96213573 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444884 S 95 0 1 CAST,ERAP1 nsv516293 5 96095961 96242143 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667386,nssv700683,nssv673060 M 2026 2 1 CAST,ERAP1,ERAP2 nsv819693 5 96121947 96122263 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418615 S 2 0 1 CAST AK1 nsv436983 5 96135967 96137839 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466864 S 60 0 1 Samples from several populations that are part of the HapMap project. CAST,ERAP1 NA10847 esv259416 5 96258216 96258520 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394159,essv2393900,essv2393703,essv2394313 M 6 0 0 Samples from several populations that are part of the HapMap project. ERAP2 NA12878,NA12891,NA19238,NA19240 esv259714 5 96258230 96258533 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399082,essv2400305,essv2399372,essv2395413,essv2397265,essv2401040,essv2397675,essv2396102,essv2395703,essv2400933,essv2398842,essv2399432,essv2395370,essv2397491,essv2397160,essv2394553,essv2398735,essv2395201,essv2396392,essv2398726,essv2395958,essv2400532 M 144 0 0 Samples from several populations that are part of the HapMap project. ERAP2 NA10851,NA11881,NA12287,NA12749,NA12878,NA12891,NA18502,NA18523,NA18532,NA18547,NA18582,NA18858,NA18916,NA18947,NA18951,NA18965,NA19005,NA19108,NA19138,NA19190,NA19238,NA19240 nsv823147 5 96273479 96283592 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435860 S 31 0 1 ERAP2 NA18566 nsv507276 5 96297197 96303197 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622948 S 4 1 0 LNPEP NA18994 nsv819519 5 96297230 96298304 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419166 S 2 1 0 LNPEP AK1 nsv4924 5 96417207 96462989 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6013 S 9 0 1 LIX1 NA12156 nsv4925 5 96420355 96453096 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2534 S 9 1 0 "" NA18555 nsv830412 5 96453061 96632375 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444886 S 95 0 1 LIX1,RIOK2 nsv830413 5 96476338 96535050 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444902,nssv1444909,nssv1444900,nssv1444908,nssv1444897,nssv1444905,nssv1444911,nssv1444899,nssv1444898,nssv1444910,nssv1444901,nssv1444888,nssv1444887,nssv1444890,nssv1444889,nssv1444892,nssv1444891,nssv1444906,nssv1444904,nssv1444894,nssv1444903,nssv1444893,nssv1444895 M 95 0 23 LIX1,RIOK2 dgv6220n71 5 96521945 96571994 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882392,nsv882391 M 6533 3 0 RIOK2 IS36172,MS15398,MS18599 nsv882393 5 96521945 96593706 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596830 S 6533 1 0 RIOK2 IS40653 esv1385283 5 96541464 96541464 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996356 S 2 1 0 RIOK2 HuRef nsv882394 5 96564341 97134315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529237 S 6533 1 0 "" SP81485 nsv509983 5 96606651 96612651 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622095,nssv618212 M 4 0 2 "" CHM,NA10860 nsv830415 5 96623519 96789913 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444912 S 95 1 0 "" nsv823148 5 96639406 96639909 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432869 S 31 0 1 "" NA18972 esv1950044 5 96643551 96644043 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772058 S 1 0 1 "" NA18507 esv2465153 5 96727608 96729056 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363561 S 1 0 1 "" NA18507 nsv882395 5 96782445 96874779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531321 S 6533 0 1 "" MS10393 nsv527650 5 96809482 97286114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704121 S 2026 0 1 "" nsv518575 5 96836203 96874779 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696019 S 2026 0 1 "" nsv830416 5 96843084 96983989 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444913 S 95 1 0 "" nsv882396 5 96874779 97152276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499205 S 6533 0 1 "" SP50562 nsv882397 5 96882605 97017321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561163 S 6533 0 1 "" MS24868 nsv882398 5 96882605 97076919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592870 S 6533 1 0 "" IS39258 nsv509077 5 96884668 96908113 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623450,nssv618042 M 4 2 0 "" CHM,NA18994 esv268067 5 96892140 96892225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518833,essv2515393,essv2516047,essv2513628 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12045,NA12249,NA12873 dgv25e196 5 96915087 97041210 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422222,esv2422198,esv2422224 M 181 0 3 "" ND01703,ND04103,ND04275 nsv830417 5 96940967 97154952 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444914 S 95 0 1 "" nsv4926 5 97015579 97060767 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8124 S 9 0 1 "" NA12156 dgv712n27 5 97030897 97134382 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462257,nsv462258 M 1557 0 2 "" 1780854009_A,HGDP01399 nsv517188 5 97053242 97162812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667111,nssv672576,nssv673320,nssv691600,nssv669041,nssv675992,nssv656847,nssv678153,nssv661811,nssv675380,nssv674705,nssv668646,nssv670765,nssv684085,nssv662416,nssv652879,nssv675820,nssv687249,nssv656062,nssv671790,nssv664476,nssv664513,nssv677581,nssv678251,nssv671353,nssv686986,nssv652945,nssv655193,nssv659001,nssv663342,nssv660154,nssv687803,nssv680327,nssv671030,nssv667035,nssv689685,nssv679248,nssv687077,nssv688689,nssv674149,nssv675477,nssv651682,nssv691210,nssv657598,nssv682334,nssv660444,nssv651994,nssv700585,nssv674938,nssv669814,nssv659759,nssv667185,nssv663976,nssv673115,nssv658845,nssv668022,nssv684925,nssv677823,nssv666680,nssv691271,nssv683827,nssv663449,nssv653965,nssv663431,nssv659672,nssv690706,nssv665346,nssv654062,nssv652082,nssv676021,nssv657922,nssv690649,nssv669891,nssv677797,nssv690783,nssv686299,nssv687231,nssv661992,nssv678357,nssv682557,nssv668621,nssv665674,nssv652145,nssv659827,nssv660416,nssv662566,nssv657212 M 2026 0 87 "" dgv204e55 5 97054185 97125100 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752085,esv2752084 M 771 0 2 "" BEC_492,SPC_76 dgv1820e1 5 97054185 97163903 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23268,essv18813,essv20743,essv17697,esv1148 M 271 0 0 "" NA07345,NA07357,NA10835,NA12248 dgv6221n71 5 97056331 97134315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882399,nsv882400 M 6533 0 7 "" IS30222,IS31330,IS32079,IS35190,IS35670,IS36882,IS41176 dgv713n27 5 97057733 97097576 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462260,nsv462259 M 1557 0 2 "" HGDP00561,HGDP00572 nsv10719 5 97073276 97122281 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13507 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 dgv6222n71 5 97073409 97127572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882401,nsv882402,nsv882403 M 6533 0 23 "" IS30226,IS30336,IS30389,IS30668,IS31054,IS31778,IS33218,IS33487,IS33632,IS34055,IS35561,IS36153,IS37064,IS38185,IS38583,IS38754,IS39113,IS40017,IS40111,IS40267,IS40272,IS40329,IS40582 esv33845 5 97073687 97119405 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98230,essv101650,essv93571 M 51 0 3 "" 21772,21909,22128 dgv714n27 5 97074222 97107276 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462263,nsv462301,nsv462287,nsv462262,nsv462288 M 1557 0 5 "" 1780862194_A,1780862356_A,HGDP00171,HGDP00222,HGDP00722 dgv55n64 5 97074222 97121798 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818358,nsv818357 M 112 0 5 "" NA07345,NA07357,NA10835,NA12248,NA12812 esv2421591 5 97074222 97125076 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055118,essv5036831,essv5023558,essv5034597,essv5064959,essv5038926,essv5074235,essv5135222,essv5066364,essv5124246,essv5115897,essv5034182,essv5011043,essv5057914,essv5025733,essv5142044,essv5155755,essv5011010 M 1184 0 18 "" NA07345,NA07357,NA10835,NA11830,NA12248,NA12283,NA12340,NA12812,NA12890,NA19650,NA20364,NA20504,NA20516,NA20753,NA20769,NA20773,NA20800,NA21107 dgv715n27 5 97074222 97134382 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462264,nsv462282,nsv462307,nsv462289,nsv462275,nsv462303,nsv462296,nsv462267,nsv462265,nsv462285,nsv462294,nsv462310,nsv462297,nsv462304,nsv462274,nsv462268,nsv462280,nsv462270,nsv462299,nsv462271,nsv462273,nsv462279,nsv462266,nsv462308,nsv462302,nsv462278,nsv462291,nsv462300,nsv462277,nsv462305,nsv462276,nsv462290,nsv462292,nsv462269,nsv462309,nsv462293,nsv462298 M 1557 0 37 "" 1780854063_A,1780854130_A,1780854401_A,1780862002_A,1780862003_A,1780862082_A,1780862093_A,1780862123_A,1780862358_A,1780862399_A,1780862466_A,1780862505_A,1780862559_A,1780862573_A,1782681076_A,1782681247_A,HGDP00068,HGDP00519,HGDP00520,HGDP00526,HGDP01163,HGDP01168,HGDP01258,NINDS_10,NINDS_109,NINDS_173,NINDS_178,NINDS_204,NINDS_225,NINDS_23,NINDS_244,NINDS_43,NINDS_50,NINDS_60,NINDS_79,NINDS_88,NINDS_95 nsv471024 5 97074222 97212939 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545145,nssv545144,nssv545140,nssv545135,nssv545136,nssv545137,nssv545141,nssv545139,nssv545138 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00072,HGDP00561,HGDP00570,HGDP00572,HGDP00585,HGDP00595,HGDP00722,HGDP01258,HGDP01365 nsv462286 5 97075236 97076368 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538493 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00213 essv19069 5 97076449 97125076 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11830 essv19139 5 97076449 97151719 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv34139 5 97077619 97102304 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2652967 5 97093851 97095484 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251878 S 1 0 1 "" NA18507 nsv442954 5 97098292 97119490 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv442955 5 97142617 97146263 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2637764 5 97145342 97147128 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297930 S 1 0 1 "" NA18507 esv2027946 5 97145361 97146510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892830 S 1 0 1 "" NA18507 nsv514315 5 97145560 97146160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627761 S 1414 0 1 "" nsv10720 5 97154663 97158292 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15351 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv830418 5 97165127 97352634 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444915 S 95 0 1 "" esv21686 5 97257955 97258403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14024 S 451 0 1 "" NA19108 nsv471025 5 97267886 97340277 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545146 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv823149 5 97282575 97322359 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426063 S 31 1 0 "" NA18968 esv1019143 5 97296610 97296610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097691 S 2 1 0 "" HuRef nsv329655 5 97297310 97297310 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348233 M 24 "" nsv882404 5 97307397 97666649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556084 S 6533 0 1 "" MS21789 esv989916 5 97308098 97310866 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563757 S 3 1 0 "" HuRef nsv4927 5 97337872 97382841 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8125 S 9 0 1 "" NA12156 nsv515944 5 97406979 97419988 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669568,nssv665397 M 2026 2 0 "" dgv1821e1 5 97421264 97575845 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16286,essv13533 M 271 0 0 "" NA19160,NA19161 dgv1822e1 5 97421264 97643999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13969,esv765 M 271 0 0 "" NA19160 nsv10721 5 97426041 97428801 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13442,nssv13728,nssv15223,nssv14069,nssv12409,nssv14521,nssv13828,nssv13575,nssv14103,nssv13337,nssv15900,nssv13162,nssv15953,nssv14498,nssv15327,nssv13906,nssv14589 M 31 14 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA12155,NA12740,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA19132,NA19144,NA19173,NA19221,NA19240 esv2520936 5 97426612 97429028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277956 S 1 0 1 "" NA18507 esv2149237 5 97427116 97428706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983077 S 1 0 1 "" NA18507 esv3062 5 97427287 97428606 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25503 S 1 0 1 Single Asian sample YH "" YH dgv957n67 5 97427296 97428511 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823152,nsv823150,nsv823151 M 31 0 18 "" AK10,AK20,AK4,AK6,NA18526,NA18542,NA18564,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv821462 5 97427296 97428511 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420533 S 1 0 1 "" NA10851 dgv149e180 5 97427298 97428511 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994906,esv1010860 M 3 1 0 "" HuRef esv25811 5 97427298 97428511 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17847 S 451 12 8 "" NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12414,NA12776,NA12828,NA18508,NA18511,NA18858,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19240 nsv819012 5 97427324 97428560 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419209 S 2 0 1 "" AK1 esv995046 5 97439702 97439794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569070 S 3 0 1 "" HuRef esv32866 5 97450477 97489621 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99527 S 51 1 0 "" 22335 nsv10722 5 97465358 97468302 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14862,nssv13788,nssv13376,nssv12469 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18502,NA18564,NA18572,NA19007 esv2598941 5 97468059 97469423 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168629 S 1 0 1 "" NA18507 essv8076 5 97468282 97558496 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19161 nsv509984 5 97471470 97477470 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623984,nssv618213,nssv621265 M 4 0 3 "" CHM,NA15510,NA18994 nsv516094 5 97473351 97537826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666163,nssv666953,nssv671480 M 2026 3 0 "" dgv56n64 5 97473351 97583573 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818360,nsv818359 M 112 2 0 "" NA19160,NA19161 nsv882405 5 97502983 97579949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509221 S 6533 0 1 "" SP54768 nsv442956 5 97512922 97517816 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv882406 5 97533036 97666649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584623 S 6533 0 1 "" IS37098 esv1272959 5 97549074 97549074 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665746 S 2 1 0 "" HuRef nsv327552 5 97549087 97549087 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346130 M 24 "" nsv882407 5 97579011 97810946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554258 S 6533 0 1 "" MS20698 nsv818361 5 97581046 97583573 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416736 S 112 0 1 "" NA19161 esv2511366 5 97629334 97630941 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318137 S 1 0 1 "" NA18507 nsv882408 5 97643999 97864694 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592871 S 6533 1 0 "" IS39258 nsv830419 5 97681618 97856979 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444916 S 95 1 0 "" nsv4928 5 97717884 97762799 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8126 S 9 0 1 "" NA12156 dgv6223n71 5 97789587 97845830 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882411,nsv882410,nsv882409 M 6533 0 3 "" SP50711,SP51480,SP81117 nsv882412 5 97824020 97981619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594530 S 6533 0 1 "" IS39923 nsv328931 5 97865526 97872131 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347509 M 24 "" nsv330011 5 97871850 97872165 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348589 M 24 "" nsv882413 5 97946729 98050220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515371 S 6533 0 1 "" SP56173 esv999288 5 97954859 97968384 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565294 S 3 0 1 "" HuRef nsv508372 5 97959231 97976760 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619960 S 4 0 1 "" NA15510 nsv823153 5 97960943 97963272 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431313 S 31 0 1 "" AK18 esv25415 5 97961061 97967719 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17657 S 451 0 1 "" NA15510 nsv441957 5 97961571 97963403 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509985 5 98005171 98011171 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621266 S 4 0 1 "" NA15510 nsv4929 5 98016231 98033386 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8127 S 9 0 1 "" NA12156 nsv882414 5 98091610 98221064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548216 S 6533 1 0 CHD1,FLJ35946,RGMB MS17745 nsv441958 5 98117485 98123869 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514316 5 98117664 98123824 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627762 S 1414 0 1 "" esv27450 5 98117879 98126353 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19382 S 451 0 1 "" NA12489 dgv6224n71 5 98162086 98340347 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882415,nsv882416 M 6533 0 2 CHD1,LOC100289230 IS35236,IS37999 nsv507277 5 98237367 98243367 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621808 S 4 1 0 CHD1 NA10860 nsv4930 5 98346668 98378544 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2535 S 9 0 1 "" NA18555 esv2484976 5 98372077 98375255 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390950 S 1 0 1 "" NA18507 dgv49n50 5 98372422 98375412 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513249,nsv511300 M 1 0 1 "" 1 esv2615733 5 98372530 98376128 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330004 S 1 0 1 "" NA18507 esv2300553 5 98372940 98375557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584052 S 1 0 1 "" NA18507 esv29024 5 98373056 98375260 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15621,esv16580 M 451 20 0 "" NA06985,NA07045,NA11931,NA12004,NA12006,NA12156,NA12287,NA12749,NA12828,NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190 nsv821282 5 98373056 98375547 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420534 S 1 0 1 "" NA10851 nsv882417 5 98456084 98576215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583342 S 6533 1 0 "" IS36424 dgv6225n71 5 98475582 98722748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882418,nsv882419 M 6533 0 2 "" IS31145,IS34489 nsv462312 5 98497801 98516161 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538516 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00239 esv2444290 5 98504832 98506560 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201303 S 1 0 1 "" NA18507 esv2121843 5 98505318 98506412 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788651 S 1 0 1 "" NA18507 nsv528411 5 98523325 98526305 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705003 S 2026 0 1 "" esv23017 5 98551150 98593965 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18836 S 451 2 0 "" NA07045,NA18511 esv2534974 5 98557938 98597957 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166437 S 1 0 1 "" NA18507 esv2622091 5 98612680 98614036 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219459 S 1 0 1 "" NA18507 esv2390420 5 98613144 98613808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811004 S 1 0 1 "" NA18507 nsv471631 5 98625473 98814385 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551193,nssv551190,nssv551196,nssv551192,nssv551195,nssv551194,nssv551191 M 48 0 7 "" JK1051,JK1058,NA10471,NA10494,NA10495,NA10496,P86GA dgv1823e1 5 98633225 98917493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv350,essv6184 M 271 0 0 "" NA18532 esv267953 5 98634050 98634416 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500169,essv2495368,essv2503391,essv2503946 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA12006,NA12287,NA12716 nsv10723 5 98691745 98694711 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13610,nssv13406,nssv13192,nssv13818,nssv13537,nssv14551 M 31 6 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA18564,NA18853,NA18942,NA19007,NA19240 esv22559 5 98742235 98743556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14206 S 451 0 1 "" NA19129 nsv10724 5 98784677 98786989 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15357 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv1344470 5 98790189 98790391 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758174 S 2 0 1 "" HuRef dgv6226n71 5 98798044 99277365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882420,nsv882421 M 6533 0 2 "" IS34599,MS17114 nsv517312 5 98803229 98825827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679249,nssv651683,nssv671791,nssv691601,nssv675478 M 2026 0 5 "" nsv462313 5 98807429 98825827 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538517 S 1557 0 1 "" 1780862195_A esv2491334 5 98837177 98871543 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217677 S 1 0 1 "" NA18507 nsv10725 5 98864129 98871055 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14133,nssv13222,nssv13848,nssv13956,nssv13567 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA11830,NA18564,NA18942 esv28024 5 98864739 98870808 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15849,esv19812 M 451 0 8 "" NA11931,NA12006,NA12749,NA12776,NA12878,NA18505,NA19099,NA19190 esv2422154 5 98867773 98869154 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5127166,essv5083453,essv5148556,essv5101274,essv5079712,essv5022466,essv5002394,essv5044648,essv5151725,essv5021811,essv5082925,essv5070909,essv5029463,essv5150685,essv5084589,essv5047658,essv5033820,essv5037930,essv5047514,essv5009550,essv5052912,essv5015995,essv5087397,essv5046040,essv5024648,essv5080605,essv5101075,essv5064027,essv5052584,essv5104401,essv5161200,essv5071480,essv5028517,essv5118092,essv5056368,essv5144691,essv5136261,essv5057025,essv5041452,essv5015555,essv5089470,essv5126748,essv5073176,essv5098738,essv5127589,essv5066014,essv5032511,essv5044506,essv5089386,essv5052562,essv5071893,essv5030902,essv5039794,essv5120721,essv5036371,essv5028309,essv5047790,essv5140731,essv5104678,essv5021601,essv5133880,essv5071969,essv5071770,essv5112055,essv5033787,essv5116039,essv5128800,essv5026416,essv5105837,essv5120224,essv5066077,essv5158190,essv5067660,essv5158974,essv5145863,essv5036325,essv5135574,essv5059619,essv5013587,essv5023754,essv5004776,essv5098594,essv5155406,essv5071432,essv5093321,essv5152814,essv5129156,essv5091338,essv5046951,essv5101380,essv5040324,essv5075455,essv5115287,essv5022931,essv5083499,essv5117497,essv5104430,essv5074524,essv5040160,essv5055812,essv5033199,essv5133851,essv5124466,essv5085186,essv5081382,essv5034841,essv5038232,essv5073939,essv5050281,essv5038887,essv5049583,essv5002420,essv5110990,essv5032863,essv5008274,essv5020871,essv5055119,essv5017161,essv5121806,essv5099038,essv5089852,essv5119073,essv5034728,essv5148339,essv5004997,essv5094981,essv5083160,essv5067030,essv5055513,essv5093764,essv5036849,essv5106242,essv5092001,essv5038781,essv5140304,essv5056884,essv5027826,essv5011485,essv5081619,essv5127364,essv5125140,essv5049067,essv5032220,essv5002868,essv5030020,essv5046205,essv5134103,essv5004289,essv5159537,essv5037884,essv5006551,essv5154535,essv5033461,essv5034955,essv5116730,essv5093595,essv5027542,essv5134336,essv5127947,essv5018526,essv5134836,essv5102399,essv5134500,essv5122789,essv5035602,essv5023064,essv5089209,essv5025697,essv5153205,essv5038875,essv5126469,essv5153060,essv5105866,essv5032709,essv5133472,essv5134345,essv5034126,essv5096603,essv5053327,essv5131392,essv5117311,essv5047360,essv5100135,essv5010148,essv5132271,essv5149711,essv5130417,essv5024233,essv5025627,essv5125381,essv5027356,essv5112536,essv5128632,essv5121522,essv5024538,essv5048560,essv5066209,essv5026018,essv5155299,essv5144387,essv5110523,essv5007312,essv5136237,essv5142210,essv5106842,essv5025589,essv5085223,essv5019462,essv5134930,essv5124063,essv5123123,essv5077686,essv5149495,essv5029385,essv5025767,essv5008084,essv5035410,essv5142891,essv5122043,essv5014128,essv5125985,essv5077974,essv5061120,essv5091500,essv5050730,essv5013307,essv5080424,essv5133617,essv5043167,essv5109813,essv5060137,essv5082743,essv5089535,essv5083638,essv5111609,essv5160208,essv5100981,essv5107458,essv5005306,essv5117930,essv5098387,essv5158140,essv5011926,essv5037269,essv5160123,essv5045375,essv5098955,essv5021757,essv5055801,essv5028817,essv5104179,essv5160545,essv5021308,essv5098597,essv5098859,essv5143928,essv5114031,essv5079061,essv5056100,essv5158845,essv5129701,essv5101627,essv5113323,essv5070404,essv5045662,essv5119059,essv5128276,essv5090723,essv5004301,essv5076641,essv5009521,essv5143937,essv5012252,essv5005371,essv5107113,essv5022786,essv5012060,essv5156407,essv5125265,essv5135383,essv5098262,essv5140477,essv5017293,essv5069129,essv5135706,essv5052729,essv5025094,essv5146182,essv5088636,essv5103817,essv5158243,essv5031742,essv5116518,essv5083751,essv5041904,essv5004414,essv5046000,essv5003732,essv5072483,essv5133279,essv5058061,essv5156927,essv5109274,essv5140776,essv5072663,essv5070708,essv5085101,essv5138863,essv5009973,essv5055430,essv5069230,essv5118051,essv5143844,essv5011541,essv5034594,essv5106350,essv5047859,essv5053902,essv5086515,essv5127219,essv5005973,essv5061242,essv5013056,essv5135136,essv5148261,essv5127316,essv5107612,essv5112120,essv5142883,essv5030966,essv5137888,essv5140611,essv5118827,essv5091827,essv5055296,essv5037785,essv5029350,essv5030567,essv5066731,essv5142884,essv5130224,essv5113539,essv5110684,essv5078287,essv5094082,essv5079068,essv5104029,essv5031444,essv5115247,essv5150707,essv5037564,essv5138523,essv5078879,essv5098909,essv5149905,essv5057865,essv5102655,essv5105685,essv5062393,essv5145613,essv5078241,essv5120404,essv5024021,essv5103186,essv5082072,essv5040521,essv5102311,essv5118771,essv5027645,essv5055046,essv5045470,essv5086421,essv5095847,essv5066104,essv5022293,essv5111576,essv5159106,essv5002095,essv5100892,essv5147027,essv5158967,essv5038324,essv5140281,essv5102219,essv5030179,essv5159631,essv5016292,essv5156313,essv5116967,essv5158300,essv5102098,essv5102756,essv5039853,essv5097159,essv5068897,essv5093596,essv5150098,essv5061279,essv5147938,essv5027870,essv5072387,essv5063030,essv5024211,essv5084556,essv5070817,essv5104575,essv5111778,essv5099130,essv5130206,essv5037876,essv5079702,essv5099418,essv5026790,essv5087915,essv5028704,essv5004698,essv5016237,essv5031741,essv5059878,essv5036186,essv5069225,essv5014921,essv5039635,essv5076028,essv5089600,essv5109006,essv5120202,essv5129763,essv5070865,essv5103797,essv5037272,essv5151568,essv5116776,essv5094264,essv5044697,essv5117305,essv5060944,essv5036452,essv5065032,essv5157728,essv5041556,essv5025009,essv5091731,essv5127034,essv5076238,essv5066227,essv5043218,essv5038181,essv5064985,essv5005236,essv5088150,essv5105217,essv5153246,essv5014855,essv5092169,essv5133763,essv5125964,essv5012473,essv5115694,essv5143376,essv5058948,essv5113526,essv5018573,essv5085935,essv5087929,essv5011975,essv5070299,essv5119685,essv5149059,essv5051984,essv5068304,essv5159893,essv5054852,essv5047471,essv5126247,essv5013556,essv5104239,essv5145157,essv5090109,essv5091843,essv5023735,essv5057471,essv5134952,essv5147459,essv5056466,essv5105761,essv5059448,essv5061833,essv5124281,essv5018357,essv5009282,essv5005376,essv5105349,essv5042406,essv5022029,essv5153554,essv5100702,essv5148265,essv5160310,essv5143319,essv5051974,essv5060932,essv5006706,essv5160506,essv5117750,essv5008396,essv5135928,essv5012230,essv5130571,essv5069828,essv5103684,essv5051223,essv5034686,essv5115061,essv5123751,essv5144353,essv5067161,essv5113135,essv5117159,essv5135592,essv5104248,essv5087611,essv5028361,essv5088112,essv5136851,essv5038896,essv5066874,essv5105818,essv5157175,essv5128687,essv5080128,essv5116337,essv5033791,essv5133575,essv5091826,essv5148642,essv5084161,essv5098471,essv5148935,essv5073050,essv5040873,essv5068651,essv5149603,essv5151809,essv5160414,essv5040369,essv5053898,essv5087294,essv5143821,essv5027378,essv5048384,essv5127045,essv5088501,essv5017237,essv5118495,essv5075876,essv5086450,essv5006975,essv5151010,essv5071493,essv5021324,essv5123029,essv5011518,essv5068545,essv5031577,essv5123406,essv5150031,essv5142637,essv5037797,essv5024753,essv5140546,essv5036689,essv5048449,essv5068199,essv5078397,essv5038403,essv5120734,essv5063451,essv5083688,essv5083539,essv5130778,essv5108108,essv5044131,essv5143323,essv5058564,essv5076929,essv5055988,essv5114886,essv5007720,essv5080948,essv5044985,essv5005789,essv5106912,essv5042756,essv5101030,essv5007743,essv5156602,essv5040495,essv5020221,essv5116753,essv5113419,essv5095399,essv5082389,essv5110400,essv5094821,essv5129248,essv5147735,essv5026964,essv5050086,essv5074949,essv5002226,essv5089004,essv5007784,essv5151483,essv5041435,essv5085466,essv5012490,essv5069086,essv5086890,essv5068912,essv5022291,essv5156222,essv5019766,essv5099305,essv5045766,essv5149619,essv5047315,essv5075470,essv5020197,essv5139419,essv5096893,essv5123555,essv5113181,essv5062044,essv5066294,essv5158994,essv5025489,essv5156467,essv5158235,essv5148069,essv5096773,essv5095925,essv5041990,essv5082404,essv5090219,essv5102222,essv5056833,essv5128389,essv5019084,essv5048774,essv5112981,essv5052187,essv5100383,essv5060498,essv5080494,essv5022200,essv5153638,essv5074238,essv5086428,essv5051391 M 1184 1 659 "" NA06984,NA06985,NA06986,NA06991,NA06993,NA06994,NA06995,NA06997,NA07031,NA07037,NA07045,NA07051,NA07056,NA07347,NA07348,NA07357,NA10830,NA10831,NA10836,NA10838,NA10839,NA10843,NA10845,NA10846,NA10853,NA10855,NA10856,NA10859,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11881,NA11891,NA11893,NA11894,NA11917,NA11918,NA11919,NA11930,NA11931,NA11992,NA11994,NA12006,NA12043,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12264,NA12273,NA12275,NA12283,NA12336,NA12340,NA12342,NA12344,NA12347,NA12375,NA12376,NA12383,NA12400,NA12489,NA12707,NA12708,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12753,NA12760,NA12762,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12815,NA12818,NA12829,NA12830,NA12832,NA12843,NA12864,NA12865,NA12873,NA12874,NA12878,NA12889,NA12891,NA12892,NA17962,NA17965,NA17966,NA17968,NA17972,NA17974,NA17975,NA17981,NA17986,NA17987,NA17989,NA17996,NA17998,NA17999,NA18105,NA18107,NA18122,NA18124,NA18127,NA18129,NA18138,NA18139,NA18140,NA18144,NA18148,NA18151,NA18154,NA18156,NA18158,NA18159,NA18160,NA18162,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18510,NA18524,NA18526,NA18532,NA18537,NA18550,NA18552,NA18557,NA18559,NA18564,NA18570,NA18571,NA18577,NA18579,NA18582,NA18593,NA18603,NA18613,NA18615,NA18617,NA18619,NA18630,NA18631,NA18633,NA18636,NA18637,NA18638,NA18639,NA18641,NA18643,NA18645,NA18670,NA18682,NA18685,NA18694,NA18696,NA18745,NA18757,NA18852,NA18853,NA18854,NA18858,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18871,NA18909,NA18911,NA18912,NA18916,NA18917,NA18924,NA18930,NA18933,NA18934,NA18935,NA18942,NA18946,NA18947,NA18953,NA18954,NA18957,NA18963,NA18964,NA18965,NA18966,NA18968,NA18970,NA18971,NA18974,NA18976,NA18977,NA18990,NA18991,NA18993,NA18994,NA19000,NA19005,NA19028,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19063,NA19066,NA19067,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19117,NA19119,NA19120,NA19121,NA19123,NA19130,NA19131,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19146,NA19147,NA19149,NA19150,NA19151,NA19152,NA19154,NA19172,NA19174,NA19175,NA19178,NA19180,NA19184,NA19185,NA19186,NA19190,NA19192,NA19193,NA19194,NA19197,NA19198,NA19200,NA19201,NA19202,NA19203,NA19207,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19223,NA19225,NA19235,NA19236,NA19237,NA19238,NA19248,NA19249,NA19308,NA19310,NA19311,NA19313,NA19314,NA19315,NA19317,NA19319,NA19321,NA19324,NA19327,NA19332,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19375,NA19379,NA19380,NA19383,NA19384,NA19385,NA19391,NA19393,NA19394,NA19397,NA19403,NA19404,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19443,NA19444,NA19446,NA19448,NA19449,NA19452,NA19456,NA19457,NA19462,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19650,NA19651,NA19653,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19670,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19711,NA19712,NA19719,NA19720,NA19722,NA19726,NA19747,NA19761,NA19763,NA19773,NA19774,NA19775,NA19777,NA19779,NA19780,NA19781,NA19788,NA19790,NA19796,NA19818,NA19819,NA19828,NA19835,NA19836,NA19901,NA19902,NA19909,NA19914,NA19915,NA19916,NA19919,NA19982,NA20129,NA20276,NA20277,NA20289,NA20290,NA20297,NA20317,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20347,NA20348,NA20357,NA20363,NA20364,NA20502,NA20504,NA20505,NA20508,NA20510,NA20512,NA20515,NA20518,NA20519,NA20522,NA20524,NA20534,NA20539,NA20540,NA20541,NA20586,NA20752,NA20754,NA20755,NA20756,NA20758,NA20761,NA20765,NA20772,NA20773,NA20774,NA20778,NA20785,NA20787,NA20790,NA20792,NA20797,NA20799,NA20801,NA20802,NA20804,NA20805,NA20806,NA20807,NA20809,NA20813,NA20818,NA20819,NA20826,NA20846,NA20851,NA20852,NA20853,NA20856,NA20858,NA20859,NA20862,NA20866,NA20871,NA20872,NA20874,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20888,NA20889,NA20890,NA20892,NA20894,NA20898,NA20901,NA20902,NA20903,NA20904,NA20906,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21102,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21115,NA21116,NA21119,NA21125,NA21137,NA21141,NA21143,NA21144,NA21297,NA21300,NA21302,NA21303,NA21312,NA21313,NA21316,NA21318,NA21333,NA21336,NA21339,NA21344,NA21356,NA21359,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21387,NA21389,NA21400,NA21401,NA21403,NA21404,NA21414,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21439,NA21440,NA21442,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21478,NA21479,NA21480,NA21488,NA21490,NA21510,NA21520,NA21521,NA21522,NA21524,NA21525,NA21526,NA21527,NA21528,NA21573,NA21574,NA21575,NA21577,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21620,NA21631,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21682,NA21683,NA21685,NA21686,NA21689,NA21717,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21776,NA21784,NA21826 dgv6227n71 5 98874504 99080579 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882423,nsv882422 M 6533 0 2 "" IS37428,MS23531 esv27807 5 98881403 98900332 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16916,esv19202 M 451 1 4 "" NA06985,NA11931,NA12004,NA12878,NA18508 nsv10726 5 98881808 98900803 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12790,nssv13936,nssv14619,nssv15983,nssv13986,nssv13525,nssv14528 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA10863,NA12155,NA12740,NA12802,NA18552,NA18972,NA18980 esv1401068 5 98886559 98887378 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995743 S 2 0 1 "" HuRef nsv882424 5 98953580 99022874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541925 S 6533 0 1 "" MS15545 nsv4931 5 98956987 98984844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3373 S 9 1 0 "" NA12878 dgv6228n71 5 98959050 99319770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882427,nsv882425 M 6533 0 2 "" IS35572,IS38630 nsv830420 5 98964870 99107688 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444917 S 95 1 0 "" nsv882426 5 98985830 99080579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541147 S 6533 0 1 "" MS15199 nsv882428 5 99029099 99135860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554605,nssv1519649,nssv1558980,nssv1567849 M 6533 0 4 "" IS31166,MS20872,MS23670,SP50101 nsv882429 5 99091145 99184261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566605 S 6533 0 1 "" IS30824 nsv882430 5 99091145 99296029 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568125 S 6533 0 1 "" IS31205 nsv882431 5 99102291 99315845 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591330 S 6533 1 0 "" IS38688 nsv521463 5 99102291 99567832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698073 S 2026 1 0 "" nsv462314 5 99116413 99211696 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538518 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01351 esv268484 5 99121189 99121274 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517163 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv2447543 5 99121193 99121897 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378523 S 1 1 0 "" NA18507 dgv82n68 5 99124137 99318460 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv830422,nsv830421 M 95 3 0 "" nsv469588 5 99183898 99367063 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649702 M 265 0 7 Samples from several populations that are part of the HapMap project. "" nsv882432 5 99192402 99262632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505573 S 6533 0 1 "" SP53687 nsv10727 5 99192494 99201339 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14129,nssv13597 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA19173 nsv830423 5 99194930 99380487 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444922 S 95 0 1 "" esv2542387 5 99201237 99202906 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361296 S 1 0 1 "" NA18507 esv2202602 5 99202041 99202730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618860 S 1 0 1 "" NA18507 esv3173 5 99202139 99202593 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25614 S 1 0 1 Single Asian sample YH "" YH esv8197 5 99202215 99202528 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30638 S 1 0 1 "" SJK nsv327347 5 99202229 99202542 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345925 M 24 "" dgv6229n71 5 99207161 99262632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882433,nsv882434 M 6533 0 3 "" MS15749,SP56172,SP56224 nsv4933 5 99216599 99244099 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6015 S 9 1 0 "" NA12156 nsv509078 5 99226179 99229795 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623451 S 4 1 0 "" NA18994 esv4292 5 99233651 99233982 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26733 S 1 0 1 Single Asian sample YH "" YH nsv471743 5 99233715 99233841 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646024 M 1.228 95 "" nsv462315 5 99234017 99251584 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538519 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00464 nsv882435 5 99234017 99262632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515372 S 6533 0 1 "" SP56173 nsv518318 5 99234017 99291611 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695749 S 2026 0 1 "" nsv525500 5 99234017 99347065 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701632 S 2026 1 0 "" essv7693 5 99235573 99537338 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18633 esv730 5 99235573 99911270 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 FAM174A,LOC100133050 nsv526724 5 99263541 99334382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703064 S 2026 0 1 "" nsv882436 5 99281201 99318210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579829 S 6533 0 1 "" IS35181 nsv882437 5 99290453 99319770 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564608 S 6533 1 0 "" IS30255 nsv462316 5 99296223 99318210 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538520 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01347 nsv882438 5 99307666 99628136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570432 S 6533 0 1 "" IS32006 nsv428118 5 99325980 99504477 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450473,nssv450472 M 62 2 0 "" HGDP01094,NA19147 nsv830424 5 99325980 99504477 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444923,nssv1444925,nssv1444924 M 95 1 2 "" esv274042 5 99327775 99328139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580255,essv2580497,essv2580047 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv268500 5 99327787 99328118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565770,essv2571686,essv2546215,essv2521433,essv2543974,essv2570868,essv2556543,essv2523137,essv2531983,essv2550321,essv2529098,essv2558657,essv2564575,essv2559499,essv2576409,essv2520023,essv2564191,essv2537651,essv2546952,essv2557264,essv2551754,essv2562650,essv2578604,essv2550075,essv2536940,essv2538965,essv2569667,essv2527030,essv2541316,essv2534896,essv2561250,essv2531015,essv2567851,essv2567532,essv2563717,essv2569100,essv2543465,essv2562217,essv2539441,essv2573068,essv2555939,essv2531513,essv2523988,essv2574691,essv2530328,essv2572704,essv2545204,essv2549727,essv2571095,essv2546118,essv2537947,essv2533066,essv2554675,essv2547662,essv2524813 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA07357,NA11829,NA11840,NA11881,NA11894,NA11992,NA11993,NA11994,NA12004,NA12006,NA12234,NA12749,NA12750,NA12751,NA12776,NA12814,NA12815,NA12828,NA12878,NA12892,NA18501,NA18504,NA18507,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18545,NA18561,NA18562,NA18573,NA18577,NA18582,NA18603,NA18861,NA18870,NA18909,NA18912,NA18942,NA18956,NA18961,NA19129,NA19138,NA19141,NA19143,NA19172,NA19225,NA19238,NA19239 nsv882439 5 99334382 99414965 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544589 S 6533 1 0 "" MS16393 esv33013 5 99350606 99473668 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101516,essv97611,essv101192,essv93956,essv96787,essv101076,essv95131,essv98177,essv94733,essv94096,essv101399,essv94412,essv97801,essv95644,essv95647,essv95512,essv93031,essv95253,essv97396,essv101724,essv101684,essv95855,essv94526,essv94601,essv99050,essv92981,essv92777,essv96094,essv96722,essv98537,essv95961,essv93581,essv93211,essv99613,essv92595,essv98074,essv96523,essv96464,essv99233,essv99203,essv97789,essv100195,essv100609,essv100332,essv99428,essv96311,essv94283 M 51 2 42 "" 21603,21616,21618,21634,21659,21693,21721,21772,21791,21802,21805,21808,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,22007,22011,22085,22127,22128,22170,22217,22233,22259,22261,22275,22278,22286,22298,22300,22335,22371,22394 nsv517073 5 99359383 99415259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653736,nssv678334,nssv654192,nssv662721,nssv674784,nssv678763 M 2026 0 6 "" dgv6230n71 5 99360595 99506327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882442,nsv882440,nsv882441 M 6533 0 3 "" IS32150,IS35342,SP57545 nsv10729 5 99408605 99420824 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13674,nssv15644,nssv13858,nssv12611,nssv13627,nssv12820,nssv15930,nssv13640,nssv12499,nssv16013,nssv14016,nssv13472,nssv14163,nssv14558,nssv13605,nssv13252,nssv15381,nssv14892,nssv14159,nssv14581,nssv15253,nssv15960,nssv15387,nssv13367,nssv14649,nssv13966,nssv14104,nssv13685 M 31 0 27 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19132,NA19144,NA19173,NA19221,NA19240 esv23098 5 99408887 99419755 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12087 S 451 5 1 "" NA12044,NA12156,NA12239,NA12828,NA18916,NA19240 nsv823155 5 99408887 99419755 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426086 S 31 1 0 "" NA18968 dgv958n67 5 99409611 99418312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823157,nsv823156 M 31 0 9 "" AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK8,NA18942 nsv819839 5 99409640 99418359 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418551 S 2 0 1 "" AK1 esv34624 5 99411368 99692426 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979358,essv6986839,essv6979356,essv6979357 M 771 1 0 "" NA18532 dgv1824e1 5 99413870 99537338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24152,essv17593,essv10246,essv1847,essv3073,essv18238,essv8460,essv18089,essv1266,essv1722,essv10740,essv9925,essv22117,essv7120,essv15233,essv21764,essv11826,essv9435,essv6023,essv11155,essv6678,essv18611,essv21205,essv8214,essv12782,essv14534,essv686,essv7824,essv10423,essv10049,essv12614,essv9075,essv14386,essv12554,essv15563,essv4741,essv4863,essv22405,essv12295,essv16438,essv2292,essv5575,essv7007,essv4143,essv20405,essv15394,essv7615,essv20156,essv16508,essv16106,essv11020,essv14181,essv21151,essv9165,essv14295,essv11593,essv19760,essv13450,essv23362,essv4086,essv23816,essv6242,essv4988,essv20069,essv20892,essv13090,essv5034,essv4303,essv9398,essv24487,essv13892,essv10649,essv19591,essv23035,essv10920,essv19283,essv1947,essv11432,essv5442,essv18369,essv8365,essv19960,essv13011,essv23918,essv5175,essv4461,essv14058,essv18143,essv17106,essv24882,essv9826,essv15015,essv23666,essv18360,essv10864,essv22864,essv21961,essv15641,essv18295,essv12713,essv11860,essv2346,essv24752,essv6829,essv1442,essv7333,essv20620,essv15055,essv5406,essv13542,essv230,essv18987,essv16831,essv12493,essv483,essv2862,essv19392,essv17767,essv23571,essv3779,essv3545,essv15817,essv159,essv22184,essv15483,essv5241,essv3140,essv3957,essv10276 M 271 0 0 "" NA07000,NA07048,NA07056,NA10830,NA10831,NA10835,NA10838,NA10846,NA10847,NA10857,NA10860,NA10861,NA10863,NA11830,NA11832,NA11840,NA11993,NA11994,NA11995,NA12005,NA12006,NA12044,NA12057,NA12145,NA12234,NA12239,NA12249,NA12750,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA18500,NA18505,NA18506,NA18507,NA18516,NA18521,NA18523,NA18529,NA18537,NA18540,NA18545,NA18552,NA18555,NA18558,NA18563,NA18570,NA18571,NA18576,NA18579,NA18603,NA18608,NA18611,NA18612,NA18620,NA18624,NA18632,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18861,NA18863,NA18870,NA18871,NA18912,NA18914,NA18940,NA18944,NA18948,NA18952,NA18953,NA18959,NA18961,NA18965,NA18966,NA18968,NA18969,NA18970,NA18975,NA18976,NA18981,NA18995,NA18997,NA19094,NA19098,NA19099,NA19100,NA19116,NA19120,NA19128,NA19129,NA19132,NA19137,NA19138,NA19139,NA19140,NA19143,NA19145,NA19152,NA19160,NA19171,NA19173,NA19192,NA19194,NA19202,NA19203,NA19205,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223 dgv1825e1 5 99413870 99874154 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8819,essv16208,essv20271,essv36,essv22321,essv7432,essv2466,essv2658,essv12272,essv10096,essv16965,essv4375,essv16708,essv6631,essv2204,essv16756,essv17933,essv809,essv350 M 271 0 0 LOC100133050 NA06985,NA12003,NA12144,NA18508,NA18573,NA18621,NA18623,NA18872,NA18960,NA18967,NA18971,NA18973,NA18991,NA18999,NA19101,NA19130,NA19142,NA19144,NA19161 nsv10730 5 99423701 99438636 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12850,nssv16043,nssv14046,nssv14679,nssv13996 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA10863,NA12740,NA12802,NA18552,NA18972 esv25635 5 99424060 99434593 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20239 S 451 0 4 "" NA06985,NA11931,NA12004,NA18508 nsv821227 5 99424060 99434593 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420535 S 1 0 1 "" NA10851 nsv882443 5 99426469 99546097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600201 S 6533 0 1 "" IS41859 dgv6231n71 5 99448499 99609919 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882451,nsv882444 M 6533 0 2 "" IS32843,MS25058 essv7513 5 99452655 99692426 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18532 nsv471632 5 99457112 99629569 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550316,nssv550317 M 48 0 2 "" JK1061,NA10494 dgv6232n71 5 99461979 99577048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882447,nsv882450,nsv882448,nsv882445,nsv882449 M 6533 0 7 "" IS35505,IS37098,IS38630,IS40024,IS40248,MS14779,MS18620 dgv6233n71 5 99461979 99756889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882446,nsv882452 M 6533 0 2 LOC100133050 IS41831,SP53262 esv2561154 5 99483966 99485480 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299146 S 1 0 1 "" NA18507 nsv523868 5 99486205 99693322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699706 S 2026 0 1 "" esv1092728 5 99500931 99501010 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642701 S 2 0 1 "" HuRef nsv882453 5 99518392 99577048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590091 S 6533 0 1 "" IS38459 nsv882454 5 99518392 99628136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552975 S 6533 1 0 "" MS19677 essv6194 5 99529524 99834078 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100133050 NA18532 nsv10731 5 99538916 99548832 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14922 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv436475 5 99541673 99549089 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466231 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26510 5 99541856 99548219 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17797 S 451 0 2 "" NA18502,NA18505 nsv525989 5 99552162 99693322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702211 S 2026 0 1 "" esv269096 5 99560512 99560664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509184,essv2506984,essv2498911 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18909,NA19102,NA19138 nsv882455 5 99562175 99748852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594670 S 6533 0 1 LOC100133050 IS39992 nsv882456 5 99587468 99634550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512813 S 6533 0 1 "" SP55637 nsv882457 5 99624268 99697555 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500099 S 6533 0 1 "" SP50082 nsv882458 5 99634592 99876233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532185 S 6533 0 1 LOC100133050 MS10731 esv2647118 5 99634999 99636432 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383050 S 1 0 1 "" NA18507 esv2342311 5 99635858 99636567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859556 S 1 0 1 "" NA18507 esv3674 5 99636010 99636455 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26115 S 1 0 1 Single Asian sample YH "" YH dgv6234n71 5 99639706 99748852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882460,nsv882459 M 6533 0 2 LOC100133050 IS30605,SP55278 nsv428119 5 99643308 99874154 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450480,nssv450478,nssv450479,nssv450477 M 62 4 0 LOC100133050 HGDP00449,HGDP00463,HGDP00467,NA19189 dgv1826e1 5 99643308 99911270 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16319,essv22952,essv19718,essv15133,essv19652,essv14593,essv19929,essv21035,essv11248,essv20669,essv14773,essv17261,essv23542,essv9419,essv15507 M 271 0 0 FAM174A,LOC100133050 NA06991,NA06993,NA07357,NA12236,NA12264,NA12813,NA12892,NA18503,NA18505,NA19093,NA19129,NA19159,NA19193,NA19204,NA19208 esv1363398 5 99702507 99702507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255901 S 2 1 0 "" HuRef esv22612 5 99737451 99760332 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10184,esv20007 M 451 4 3 LOC100133050 NA06985,NA07045,NA12044,NA12414,NA12878,NA18505,NA18508 nsv10732 5 99737509 99763528 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15674,nssv16073,nssv12880,nssv14106,nssv13878,nssv14588,nssv13635,nssv14709,nssv14026,nssv15417 M 31 0 10 Samples from several populations that are part of the HapMap project. LOC100133050 NA10863,NA12155,NA12740,NA12802,NA18517,NA18537,NA18552,NA18564,NA18972,NA19132 nsv520372 5 99770263 99820978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697378 S 2026 0 1 "" nsv818362 5 99770263 99820978 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415576,nssv1415577 M 112 0 2 "" NA10830,NA12236 nsv882461 5 99773666 99955237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581380 S 6533 0 1 FAM174A IS35572 nsv882462 5 99773666 100088049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591697 S 6533 0 1 FAM174A IS39011 essv21467 5 99782976 99892012 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10830 nsv513250 5 99786075 99789589 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626756 S 1 0 1 "" 1 esv2456106 5 99786703 99788297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251772 S 1 0 1 "" NA18507 esv2032235 5 99787165 99787866 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947752 S 1 0 1 "" NA18507 esv3002 5 99787277 99787776 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25443 S 1 0 1 Single Asian sample YH "" YH esv8232 5 99787356 99787691 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30673 S 1 0 1 "" SJK esv2535131 5 99787375 99787692 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350679 S 1 0 1 "" NA18507 esv1035057 5 99787375 99787693 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068527 S 2 0 1 "" HuRef dgv6235n71 5 99812015 99955237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882463,nsv882464,nsv882465 M 6533 0 3 FAM174A IS33747,IS40890,MS20286 esv33708 5 99830318 99838941 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99318 S 51 1 0 "" 22275 nsv818363 5 99926750 99934121 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417426 S 112 1 0 FAM174A NA18952 nsv823158 5 99940390 99988307 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438825 S 31 0 1 FAM174A NA18973 esv2516202 5 99951161 99952768 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192993 S 1 0 1 "" NA18507 esv2137372 5 99951252 99951948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607856 S 1 0 1 "" NA18507 dgv204n6 5 99951433 99951751 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv328583,nsv329996 M 24 "" esv6196 5 99951443 99951732 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28637 S 1 0 1 "" SJK dgv6236n71 5 99963989 100057519 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882468,nsv882466 M 6533 0 2 "" IS31419,IS39716 nsv882467 5 99980181 100128056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597226 S 6533 0 1 "" IS40776 esv271629 5 100039801 100040223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494167,essv2501521,essv2498981 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19093,NA19114 dgv6237n71 5 100046291 100128056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882470,nsv882469 M 6533 0 2 "" MS15841,MS18843 esv269461 5 100088049 100088377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565760,essv2571560,essv2521149,essv2536751,essv2543933,essv2570853,essv2525437,essv2535030,essv2544280,essv2564684,essv2564008,essv2537259,essv2546669,essv2521013,essv2557296,essv2552599,essv2532332,essv2562643,essv2578746,essv2534930,essv2561148,essv2566940,essv2556276,essv2528166,essv2568825,essv2549689,essv2571508,essv2574228,essv2538099,essv2554680 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA11829,NA11840,NA11894,NA11920,NA11992,NA11993,NA12156,NA12249,NA12414,NA12751,NA12828,NA12878,NA12892,NA18498,NA18499,NA18502,NA18505,NA18507,NA18510,NA18561,NA18562,NA18853,NA18871,NA18907,NA19147,NA19225,NA19238,NA19240 nsv462319 5 100088049 100128056 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538521 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01248 esv273124 5 100088056 100088382 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581692,essv2583092,essv2584141,essv2583708 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv2608676 5 100100387 100101937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264106 S 1 0 1 "" NA18507 esv996161 5 100129892 100130682 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586907 S 3 1 0 "" HuRef nsv823159 5 100130088 100130701 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434424 S 31 1 0 "" NA18570 nsv823160 5 100139460 100139982 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426097 S 31 0 1 "" NA18968 nsv882471 5 100262338 100389970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581078 S 6533 0 1 ST8SIA4 IS35498 dgv6238n71 5 100262338 100565762 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882474,nsv882473,nsv882472 M 6533 0 3 ST8SIA4 IS34599,IS36219,MS22959 esv6955 5 100267316 100267380 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29396 S 1 1 0 "" SJK nsv462320 5 100275453 100803506 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538522 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01030 nsv524773 5 100292249 100337065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700764 S 2026 0 1 "" nsv525359 5 100292249 100377223 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701478 S 2026 0 1 "" dgv6239n71 5 100303212 100432701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882476,nsv882475 M 6533 0 2 "" IS30742,IS35100 nsv522908 5 100337065 100368305 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698567 S 2026 0 1 "" nsv818364 5 100337065 100368305 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417494,nssv1417505 M 112 1 1 "" NA12234,NA12264 nsv882477 5 100389970 100605594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566811 S 6533 0 1 "" IS30925 esv1544197 5 100450561 100450647 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262354 S 2 0 1 "" HuRef nsv528811 5 100451980 101245986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705485 S 2026 0 1 "" nsv882478 5 100506330 100612553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601187 S 6533 0 1 "" IS41982 nsv516292 5 100518871 100953583 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667385,nssv673058 M 2026 2 0 "" esv271945 5 100525273 100525358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516712,essv2519224,essv2517382,essv2518842,essv2515287,essv2518616,essv2516406,essv2515911,essv2514415,essv2513897 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA12045,NA12249,NA12287,NA12814,NA12873,NA12874,NA19143 dgv1827e1 5 100535625 100788621 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18130,esv805,essv24763 M 271 0 0 "" NA10860,NA11993 dgv1828e1 5 100570013 100684490 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21361,essv18536 M 271 0 0 "" NA10860,NA11993 esv35075 5 100570751 100684431 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986530,essv6978050 M 771 1 0 "" NA10860 esv2231987 5 100577016 100577485 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873632 S 1 0 1 "" NA18507 esv26937 5 100578908 100677284 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13171 S 451 1 0 "" NA11993 nsv818365 5 100580349 100663004 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415838,nssv1415840 M 112 2 0 "" NA10860,NA11993 nsv882479 5 100615525 100969271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581381 S 6533 0 1 "" IS35572 dgv6240n71 5 100627126 100693456 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882484,nsv882483,nsv882480 M 6533 0 14 "" IS31179,IS31285,IS31335,IS31875,IS35189,IS35236,IS36527,IS37999,IS39923,MS15841,MS22104,MS23670,MS25617,SP54030 dgv6241n71 5 100627126 100787180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882481,nsv882485 M 6533 0 3 "" IS31044,IS31137,IS41832 nsv882482 5 100635818 100676691 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568126 S 6533 0 1 "" IS31205 dgv6242n71 5 100649778 100710302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882487,nsv882486 M 6533 0 2 "" SP56267,SP57367 nsv882488 5 100661637 100693456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500003 S 6533 0 1 "" SP50137 nsv10733 5 100662197 100670382 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15411 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv882489 5 100668620 100738211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561619 S 6533 0 1 "" MS25139 nsv882490 5 100668620 100854223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541148 S 6533 0 1 "" MS15199 nsv4934 5 100754348 100788676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2700 S 9 1 0 "" NA18555 nsv10734 5 100775951 100777569 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13888 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 dgv6243n71 5 100795850 100867287 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882492,nsv882491 M 6533 0 2 "" SP56007,SP80928 dgv6244n71 5 100826549 100998901 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882494,nsv882493 M 6533 0 3 "" MS24854,SP55405,SP56125 nsv526905 5 100994618 101031711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703265 S 2026 0 1 "" esv2079838 5 101011750 101012202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978138 S 1 0 1 "" NA18507 nsv327481 5 101011936 101011987 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346059 M 24 "" esv2453689 5 101011951 101012002 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341423 S 1 0 1 "" NA18507 nsv518080 5 101047169 101115487 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695493 S 2026 1 0 "" nsv882495 5 101072664 101145510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521956 S 6533 1 0 "" SP52655 dgv6245n71 5 101094006 101535753 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882496,nsv882497 M 6533 0 2 "" IS35742,MS12648 esv1007382 5 101103540 101103549 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581568 S 3 1 0 "" HuRef nsv327841 5 101103542 101103542 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346419 M 24 "" nsv327926 5 101103551 101103551 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346504 M 24 "" esv28918 5 101120995 101136829 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10196,esv17159 M 451 2 0 "" NA12414,NA19257 dgv6246n71 5 101153552 101219492 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882498,nsv882499 M 6533 0 2 "" IS31825,MS22524 dgv110n17 5 101178453 101238736 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437470,nsv437469,nsv437467 M 60 0 3 "" NA18500,NA18503,NA19139 nsv882500 5 101191706 101369022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521957 S 6533 1 0 "" SP52655 nsv10735 5 101192106 101235511 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14952 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv28949 5 101194649 101235175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13095 S 451 0 2 "" NA18502,NA18505 esv2421690 5 101195191 101234788 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019974,essv5137726,essv5026162,essv5124163,essv5125734,essv5016641,essv5041615,essv5090911,essv5092636,essv5130649,essv5008789,essv5032313 M 1184 0 12 "" NA18500,NA18503,NA18505,NA19137,NA19139,NA19209,NA19211,NA19310,NA19328,NA19375,NA19431,NA19701 nsv471026 5 101197157 101234268 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545147 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00478 nsv516220 5 101197157 101234268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680752,nssv681511,nssv691394,nssv688529,nssv689923,nssv683386,nssv659285,nssv690945,nssv689768,nssv666880 M 2026 0 10 "" nsv818366 5 101197157 101234268 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416933,nssv1416932 M 112 0 2 "" NA19137,NA19139 nsv442957 5 101201120 101234788 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514317 5 101201944 101234528 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627763 S 1414 0 1 "" nsv524531 5 101206213 101440511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700481 S 2026 0 1 "" dgv1829e1 5 101207948 101233931 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8981,essv9277,esv1381,essv10611,essv13344,essv8551,essv7935 M 271 0 0 "" NA18500,NA18503,NA19137,NA19139,NA19209,NA19211 nsv462321 5 101220592 101269177 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538523 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00894 nsv521790 5 101220592 101269177 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694559 S 2026 1 0 "" nsv462322 5 101230797 101289699 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538524 S 1557 1 0 "" NINDS_117 dgv349n21 5 101269177 101301550 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528046,nsv521719 M 2026 0 2 "" nsv882501 5 101319859 101369022 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593556 S 6533 0 1 "" IS39450 nsv882502 5 101319859 101420372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547299,nssv1537464,nssv1554811,nssv1551483 M 6533 0 4 "" MS13212,MS17306,MS18902,MS21017 esv33986 5 101320382 101390481 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100524 S 51 0 1 "" 22298 esv1000851 5 101341055 101348732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565021 S 3 0 1 "" HuRef nsv507278 5 101375252 101381252 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621809,nssv620312 M 4 2 0 "" NA10860,NA15510 nsv523337 5 101392599 101440511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699083 S 2026 1 0 "" dgv6247n71 5 101392599 101574538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882504,nsv882503 M 6533 0 2 "" IS41982,MS15704 esv1523163 5 101414613 101414711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720535 S 2 0 1 "" HuRef nsv882505 5 101425748 101680150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509521 S 6533 0 1 SLCO4C1 SP54816 esv1004973 5 101427793 101427793 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582558 S 3 1 0 "" HuRef esv1021001 5 101427806 101427806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739824 S 2 1 0 "" HuRef dgv6248n71 5 101440511 101576599 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882507,nsv882506 M 6533 0 2 "" IS38459,MS13498 nsv4935 5 101452430 101485914 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4853 S 9 1 0 "" NA19129 esv275474 5 101491076 101501074 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586091 S 1250 0 1 "" dgv6249n71 5 101493005 101574538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882509,nsv882508 M 6533 0 2 "" MS11467,SP51432 nsv823161 5 101524587 101532922 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438145 S 31 1 0 "" NA18951 nsv520047 5 101569683 101594006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660279,nssv677776 M 2026 0 2 "" nsv507279 5 101618848 101624848 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620313,nssv621810 M 4 2 0 SLCO4C1 NA10860,NA15510 nsv522882 5 101624532 101810829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698538 S 2026 0 1 SLCO4C1,SLCO6A1 esv268733 5 101628205 101628567 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505190,essv2505872,essv2507175,essv2513463,essv2499741 M 157 5 0 Samples from several populations that are part of the HapMap project. SLCO4C1 NA18853,NA18861,NA18870,NA18907,NA19225 nsv462324 5 101661509 101757403 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538525 S 1557 1 0 SLCO6A1 1780862300_A nsv882510 5 101666280 101761076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579288 S 6533 0 1 SLCO6A1 IS35083 nsv830427 5 101679409 101877622 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444926 S 95 1 0 SLCO6A1 nsv462325 5 101680150 101772918 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538526 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLCO6A1 HGDP00828 dgv6250n71 5 101696914 101847880 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882511,nsv882516,nsv882515,nsv882514 M 6533 12 0 SLCO6A1 IS30284,IS30406,IS31728,IS33888,IS34964,IS36475,IS36777,IS38241,IS38494,IS40047,IS40296,MS17706 nsv882512 5 101700137 101771682 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560335 S 6533 1 0 SLCO6A1 MS24439 nsv882513 5 101700137 101774607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551316 S 6533 0 1 SLCO6A1 MS18847 nsv513251 5 101720466 101723858 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626757 S 1 0 1 "" 1 dgv350n21 5 101729823 101823389 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519686,nsv526352 M 2026 2 0 SLCO6A1 nsv882517 5 101730099 101761076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515846 S 6533 0 1 SLCO6A1 SP56294 esv1929846 5 101824314 101824729 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706012 S 1 0 1 SLCO6A1 NA18507 nsv830428 5 101825141 101986690 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444930,nssv1444928,nssv1444927 M 95 1 2 SLCO6A1 nsv517637 5 101952673 101960316 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677248,nssv680116,nssv673539,nssv666402,nssv662365,nssv659856,nssv684765,nssv656523,nssv679811,nssv668429,nssv652636,nssv692523,nssv667981,nssv655760,nssv655219,nssv682357,nssv677100,nssv671078 M 2026 0 18 "" nsv882518 5 102033686 102135161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551041 S 6533 0 1 "" MS18747 esv2496208 5 102061310 102062987 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249351 S 1 0 1 "" NA18507 esv275493 5 102093068 102104449 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585527,essv2585586 M 1250 1 1 "" nsv830429 5 102163810 102287074 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444935,nssv1444932,nssv1444938,nssv1444941,nssv1444934,nssv1444942,nssv1444933,nssv1444937,nssv1444936,nssv1444931,nssv1444939 M 95 11 0 PAM esv2093853 5 102166606 102167002 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843695 S 1 0 1 "" NA18507 esv2453269 5 102190470 102192058 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389499 S 1 0 1 "" NA18507 esv2072015 5 102191077 102191687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941757 S 1 0 1 "" NA18507 esv4863 5 102191236 102191581 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27304 S 1 0 1 Single Asian sample YH "" YH esv9598 5 102191250 102191534 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32039 S 1 0 1 "" SJK dgv205n6 5 102191254 102191525 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327492,nsv329899 M 24 "" esv989266 5 102191258 102191510 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568217 S 3 0 1 "" HuRef nsv882519 5 102253746 102722011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601215 S 6533 0 1 C5orf30,GIN1,PAM,PPIP5K2 IS41984 esv29186 5 102263597 102264179 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20475 S 451 0 1 PAM NA19099 nsv830430 5 102359806 102519831 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444943,nssv1444944 M 95 2 0 GIN1,PAM,PPIP5K2 esv267446 5 102371329 102371586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496801,essv2506061,essv2498595 M 157 3 0 Samples from several populations that are part of the HapMap project. PAM NA18498,NA18523,NA18858 nsv882520 5 102489239 102537802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503816 S 6533 0 1 PPIP5K2 SP52114 nsv882521 5 102489239 102588548 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499744 S 6533 0 1 PPIP5K2 SP50649 nsv882522 5 102570574 102705263 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568538 S 6533 0 1 C5orf30 IS31302 esv271115 5 102576170 102576255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518609 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv4936 5 102605841 102635616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10465 S 9 1 0 C5orf30 NA18956 nsv507280 5 102631936 102637936 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620314 S 4 1 0 C5orf30 NA15510 nsv882523 5 102670954 103370644 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516108 S 6533 1 0 NUDT12 SP56457 nsv511112 5 102738651 102754579 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621586 S 4 0 0 "" NA15510 esv269149 5 102793223 102793308 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514348 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv328355 5 102901094 102901094 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346933 M 24 "" nsv524180 5 102953567 102961294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700062 S 2026 0 1 "" esv1009445 5 102991439 102991439 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583470 S 3 1 0 "" HuRef nsv830431 5 103004389 103169223 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444945 S 95 1 0 "" nsv428120 5 103012559 103187293 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450486 S 62 1 0 "" HGDP00463 nsv516653 5 103041827 103042663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661697,nssv669907 M 2026 0 2 "" esv2527858 5 103057350 103059120 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221614 S 1 0 1 "" NA18507 esv2242031 5 103058258 103058972 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544610 S 1 0 1 "" NA18507 esv3025 5 103058422 103058936 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25466 S 1 0 1 Single Asian sample YH "" YH esv994501 5 103058455 103058779 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570188 S 3 0 1 "" HuRef esv7045 5 103058460 103058785 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29486 S 1 0 1 "" SJK esv1309208 5 103058466 103058791 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047178 S 2 0 1 "" HuRef nsv329801 5 103058467 103058791 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348379 M 24 "" esv2648008 5 103089461 103091127 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294679 S 1 0 1 "" NA18507 esv2328316 5 103090039 103090701 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924678 S 1 0 1 "" NA18507 nsv329148 5 103090210 103090525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347726 M 24 "" nsv830432 5 103116060 103308142 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444946 S 95 0 1 "" nsv4937 5 103201611 103234918 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8128 S 9 1 0 "" NA12156 nsv4938 5 103251991 103276679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3374 S 9 1 0 "" NA12878 dgv716n27 5 103253073 103286835 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462326,nsv462327 M 1557 0 2 "" HGDP00189,NINDS_42 nsv882524 5 103265644 104047191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546127 S 6533 0 1 "" MS17114 nsv462329 5 103272539 103292886 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538529 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00124 nsv882525 5 103307065 103403078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581382,nssv1569325 M 6533 0 2 "" IS31563,IS35572 nsv509079 5 103415180 103449176 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620828 S 4 1 0 "" NA15510 nsv882526 5 103418563 103506417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601108 S 6533 0 1 "" IS41971 nsv462332 5 103471055 103478689 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538530 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00855 nsv516240 5 103471055 103478689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660498,nssv652664,nssv684939,nssv680195 M 2026 0 4 "" esv271904 5 103489024 103489297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508016,essv2502511 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA12750 nsv462333 5 103490533 103519662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538531 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01318 nsv508373 5 103491934 103515290 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618776 S 4 0 1 "" NA10860 esv271284 5 103492288 103492624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565738,essv2526237,essv2542372,essv2522856,essv2523322,essv2531845,essv2570687,essv2521802,essv2550818,essv2535414,essv2554145,essv2520628,essv2558374,essv2559545,essv2576196,essv2519959,essv2563971,essv2530783,essv2561805,essv2547014,essv2552412,essv2551761,essv2532220,essv2578555,essv2550084,essv2536862,essv2539061,essv2561527,essv2541088,essv2538186,essv2542688,essv2540243,essv2524403,essv2564888,essv2534956,essv2561155,essv2539750,essv2549189,essv2519526,essv2560021,essv2531122,essv2567810,essv2528761,essv2567470,essv2541536,essv2563869,essv2559216,essv2542193,essv2551043,essv2543632,essv2527841,essv2573034,essv2533596,essv2555540,essv2567111,essv2566365,essv2527708,essv2522422,essv2573576,essv2543058,essv2577173,essv2525665,essv2526806,essv2529420,essv2575423,essv2575135,essv2560750,essv2524200,essv2560808,essv2568553,essv2560210,essv2549649,essv2571488,essv2545855,essv2574245,essv2551409,essv2536055,essv2537889,essv2548819,essv2533025,essv2554414,essv2547685,essv2558028 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10851,NA11829,NA11918,NA11919,NA11931,NA12004,NA12006,NA12044,NA12144,NA12155,NA12249,NA12287,NA12716,NA12750,NA12776,NA12814,NA12815,NA12828,NA12873,NA12874,NA12892,NA18502,NA18504,NA18505,NA18510,NA18511,NA18517,NA18519,NA18523,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18573,NA18577,NA18579,NA18582,NA18592,NA18603,NA18638,NA18856,NA18858,NA18870,NA18907,NA18942,NA18944,NA18945,NA18947,NA18948,NA18952,NA18960,NA18964,NA18965,NA18970,NA18980,NA19005,NA19093,NA19099,NA19102,NA19116,NA19129,NA19137,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274045 5 103492289 103492623 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583153,essv2583954,essv2584667,essv2583315 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv507281 5 103501686 103507686 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620315,nssv617684 M 4 2 0 "" CHM,NA15510 dgv1830e1 5 103511683 103661467 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23037,esv447,essv5502 M 271 0 0 "" NA12812,NA18632 nsv4939 5 103526050 103560950 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv482 S 9 1 0 "" NA19240 nsv10736 5 103530858 103532361 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14134,nssv15990 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA19221 nsv882527 5 103533627 103584360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585078 S 6533 0 1 "" IS37248 nsv517638 5 103548859 103561783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663381,nssv667691,nssv693215,nssv688975,nssv671270,nssv656748,nssv693194,nssv658353,nssv662112,nssv652637 M 2026 0 10 "" nsv818368 5 103548859 103561783 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416066 S 112 0 1 "" NA12812 nsv882528 5 103551702 103621655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564865 S 6533 0 1 "" IS30311 dgv6251n71 5 103561783 103660622 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882529,nsv882532,nsv882533,nsv882530 M 6533 0 4 "" IS30899,IS31145,IS36219,MS11467 nsv882531 5 103561783 103693138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567311 S 6533 0 1 "" IS31067 nsv471028 5 103651628 103713143 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545148 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 dgv6252n71 5 103662037 103856239 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882535,nsv882534 M 6533 0 3 "" MS10737,MS21189,MS23531 nsv518283 5 103674913 103704240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695714 S 2026 0 1 "" nsv462336 5 103674913 103752969 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538532 S 1557 0 1 "" NINDS_222 nsv516583 5 103701379 103704240 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669363,nssv681472,nssv655636 M 2026 0 3 "" nsv519706 5 103729578 103822621 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657725,nssv684940,nssv682630,nssv672849,nssv705045 M 2026 1 4 "" nsv882536 5 103733769 103856239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566471 S 6533 0 1 "" IS30742 esv271173 5 103766303 103766611 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541038,essv2543958,essv2523225,essv2531745,essv2570510,essv2521817,essv2576570,essv2547445,essv2564643,essv2578017,essv2561762,essv2553007,essv2538430,essv2565075,essv2534953,essv2549599,essv2519830,essv2560152,essv2522050,essv2532717,essv2528822,essv2541848,essv2572227,essv2573191,essv2573979,essv2557708,essv2543223,essv2537851,essv2547971 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA11831,NA11992,NA12004,NA12006,NA12044,NA12144,NA12154,NA12717,NA12751,NA12761,NA12874,NA18542,NA18547,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18576,NA18579,NA18592,NA18609,NA18942,NA18951,NA18953,NA18965 nsv428121 5 103805576 104122544 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450489 S 62 0 1 "" HGDP00460 nsv4940 5 103840363 103925125 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3375,nssv10466,nssv11107,nssv6016,nssv483 M 9 0 5 "" NA12156,NA12878,NA15510,NA18956,NA19240 nsv882537 5 103861843 103953109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583780 S 6533 0 1 "" IS36656 nsv508374 5 103879660 103901295 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619961 S 4 0 1 "" NA15510 nsv274 5 103880569 103907829 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv274 S 1 0 1 "" NA15510 dgv105n16 5 103881176 103888622 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436479,nsv435823 M 2 0 2 "" NA15510,NA18505 nsv513252 5 103881498 103889610 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626758 S 1 0 1 "" 1 dgv150e180 5 103881617 103888502 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994176,esv998695 M 3 0 1 "" HuRef esv2428771 5 103881671 103889101 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333834 S 1 0 1 "" NA18507 esv2034289 5 103881996 103888425 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649246 S 1 0 1 "" NA18507 dgv6e195 5 103882062 103888948 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array esv2421518,esv2421954 M 1184 0 1096 "" NA06984,NA06986,NA06989,NA06993,NA06994,NA06995,NA07000,NA07014,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12801,NA12802,NA12812,NA12813,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12842,NA12843,NA12864,NA12865,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12891,NA12892,NA17962,NA17966,NA17967,NA17968,NA17969,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18108,NA18109,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18158,NA18159,NA18160,NA18161,NA18162,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18550,NA18552,NA18557,NA18558,NA18559,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18603,NA18605,NA18608,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18622,NA18623,NA18626,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18643,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18704,NA18745,NA18747,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18952,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18964,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19005,NA19007,NA19009,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19778,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20801,NA20803,NA20804,NA20805,NA20806,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21514,NA21517,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21608,NA21611,NA21613,NA21614,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21682,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 dgv50n47 5 103882173 103888240 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499136,nsv499428 M 9 0 2 "" dgv206n6 5 103882174 103888239 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329399,nsv327605 M 24 "" esv8860 5 103882178 103888233 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31301 S 1 0 1 "" SJK esv1106087 5 103882187 103888239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657565 S 2 0 1 "" HuRef esv2421390 5 103888272 103888503 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip 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M 1184 0 1078 "" 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nsv830433 5 103890873 104011391 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444947,nssv1444949,nssv1444948 M 95 3 0 "" nsv462337 5 103934043 103999745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538533 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460 nsv471029 5 103934043 103999745 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545149 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460 nsv523044 5 103940522 103953109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698727 S 2026 0 1 "" esv2752054 5 103949569 104317465 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989221,essv6987910,essv6981093,essv6981092,essv6981091 M 771 0 1 "" BEC_351 nsv512856 5 103954297 103954584 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625497 S 1 1 0 "" 1 esv1724871 5 103954591 103954591 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019719 S 2 1 0 "" HuRef nsv882538 5 103959978 104047191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574275,nssv1569884 M 6533 0 2 "" IS31729,IS33533 dgv1831e1 5 103967573 104010013 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12432,esv1198 M 271 0 0 "" NA19152 essv9482 5 103989195 104010013 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19154 nsv519921 5 104016997 104155541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704561,nssv705202,nssv692758,nssv659509 M 2026 0 4 "" esv1411540 5 104030283 104030283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4155517 S 2 1 0 "" HuRef esv1405186 5 104030297 104030297 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686052 S 2 1 0 "" HuRef nsv882539 5 104079091 104161063 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521731 S 6533 1 0 "" SP52562 nsv830434 5 104087263 104270295 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444950 S 95 1 0 "" nsv882540 5 104092841 104310901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586781 S 6533 1 0 "" IS37976 nsv882541 5 104107807 104175147 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524479 S 6533 1 0 "" SP55041 dgv6253n71 5 104107807 104270540 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882542,nsv882543 M 6533 2 0 "" SP56002,SP57983 nsv462340 5 104114206 104133020 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538534 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00811 nsv523593 5 104118535 104282479 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699384 S 2026 0 1 "" nsv882544 5 104138018 104278058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567950 S 6533 0 1 "" IS31179 nsv4941 5 104144379 104177757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2701 S 9 1 0 "" NA18555 nsv471030 5 104161063 104270776 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545150,nssv545151 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00315,HGDP00599 nsv882545 5 104167702 104869821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546128 S 6533 0 1 RAB9BP1 MS17114 nsv882546 5 104175147 104255604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598795 S 6533 0 1 "" IS41113 dgv6254n71 5 104175147 104292129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882549,nsv882547 M 6533 0 2 "" IS31729,IS34489 nsv882548 5 104181491 104233891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508905 S 6533 0 1 "" SP54625 nsv4942 5 104190590 104223672 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3376 S 9 1 0 "" NA12878 dgv6255n71 5 104206497 104260921 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882551,nsv882550 M 6533 0 2 "" IS31137,IS35100 nsv882552 5 104206497 104278058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521214 S 6533 0 1 "" SP52297 nsv428122 5 104208768 104578320 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450490 S 62 1 0 RAB9BP1 HGDP00449 dgv1832e1 5 104226158 104322489 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1426,essv18535 M 271 0 0 "" NA11993 nsv882553 5 104226959 104266799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586287 S 6533 0 1 "" IS37730 nsv882554 5 104226959 104278058 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597777,nssv1524480,nssv1541149 M 6533 1 2 "" IS41292,MS15199,SP55041 dgv6256n71 5 104226959 104292129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882556,nsv882555 M 6533 0 2 "" IS31554,IS32289 nsv521060 5 104233891 104253771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697762 S 2026 0 1 "" nsv462341 5 104235912 104259193 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538535 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01286 esv29193 5 104245457 104282922 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11908 S 451 1 0 "" NA11993 nsv818369 5 104248483 104282479 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415841 S 112 1 0 "" NA11993 dgv6257n71 5 104267760 104310901 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882558,nsv882557 M 6533 0 2 "" SP53196,SP56834 nsv882559 5 104270776 104418747 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564783 S 6533 1 0 "" IS30297 nsv522085 5 104296736 104302739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694130 S 2026 0 1 "" nsv818370 5 104300738 104324560 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417991 S 112 0 1 "" NA07357 essv20745 5 104301300 104322489 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07357 esv2422257 5 104308074 104380631 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161554 S 181 0 1 "" ND04484 nsv882560 5 104316457 104432541 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593100 S 6533 0 1 "" IS39356 dgv6258n71 5 104316457 104951777 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882565,nsv882561 M 6533 2 0 RAB9BP1 IS36594,SP81106 dgv1833e1 5 104334472 104660077 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23445,essv21847,esv615,essv23236 M 271 0 0 RAB9BP1 NA07029,NA10854,NA11839 nsv882562 5 104339732 104480554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583614 S 6533 0 1 RAB9BP1 IS36550 nsv882563 5 104355291 104384351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512700 S 6533 0 1 "" SP55596 nsv882564 5 104375899 104446229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598271 S 6533 0 1 "" IS41292 nsv526149 5 104383282 104401279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702408 S 2026 0 1 "" dgv351n21 5 104422173 104466657 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518634,nsv519527,nsv522022 M 2026 0 3 RAB9BP1 nsv882566 5 104422173 104567925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570491 S 6533 0 1 RAB9BP1 IS32150 nsv4944 5 104447361 104542241 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3377 S 9 0 1 RAB9BP1 NA12878 essv21093 5 104452196 104556024 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. RAB9BP1 NA10854 nsv10737 5 104453469 104532744 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13502 S 31 0 1 Samples from several populations that are part of the HapMap project. RAB9BP1 NA07029 dgv111n17 5 104453519 104562047 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436985,nsv436984 M 60 0 2 RAB9BP1 NA10854,NA12878 nsv471031 5 104454853 104518786 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545152 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAB9BP1 HGDP00879 nsv469797 5 104455682 104605683 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649818 M 265 6 0 Samples from several populations that are part of the HapMap project. RAB9BP1 nsv433231 5 104460010 104501925 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463112 S 9 0 1 Samples from several populations that are part of the HapMap project. RAB9BP1 NA12878 dgv717n27 5 104460010 104518786 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462343,nsv462342,nsv462345,nsv462344 M 1557 0 4 RAB9BP1 1780862123_A,1780862516_A,1780862530_A,HGDP00041 nsv517325 5 104460010 104518786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676474,nssv659472,nssv663059,nssv690946,nssv688751,nssv674176,nssv688495,nssv674988,nssv669071,nssv689944,nssv670013,nssv688129,nssv681724,nssv668281,nssv677412,nssv672968,nssv686038,nssv676451,nssv651723,nssv672406,nssv688868,nssv666798 M 2026 0 22 RAB9BP1 nsv818371 5 104460010 104518786 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417022,nssv1417021,nssv1416155,nssv1416156 M 112 0 4 RAB9BP1 NA06994,NA07029,NA12878,NA12892 nsv499711 5 104460012 104531572 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585959 S 9 0 1 RAB9BP1 esv25906 5 104460808 104531562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17048 S 451 0 1 RAB9BP1 NA12878 esv33504 5 104461570 104528473 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92974,essv93708 M 51 0 2 RAB9BP1 21939,21972 nsv471032 5 104463047 104593641 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545153 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAB9BP1 HGDP00544 dgv6259n71 5 104463047 104892450 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882567,nsv882612 M 6533 0 2 RAB9BP1 IS30522,MS10727 nsv442959 5 104464614 104506104 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv6260n71 5 104464778 104580203 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882572,nsv882570,nsv882573,nsv882571,nsv882568 M 6533 0 12 "" IS30490,IS30899,IS31554,IS31581,IS35236,IS36219,IS36244,IS36722,IS38993,IS39100,IS41224,IS41317 dgv718n27 5 104464778 104591075 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462357,nsv462359,nsv462358,nsv462346,nsv462347 M 1557 0 5 "" 1780854536_A,1780862194_A,1780862310_A,1782681169_A,HGDP00153 nsv462348 5 104464778 104667691 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538542 S 1557 0 1 "" 1780862014_A nsv882569 5 104466657 104518786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568784,nssv1590121,nssv1570946,nssv1569079 M 6533 0 4 "" IS31338,IS31419,IS32365,IS38463 dgv6261n71 5 104466657 104682824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882574,nsv882575,nsv882577,nsv882576 M 6533 0 8 "" IS31074,IS31330,IS32607,IS33196,IS41113,MS18847,MS18978,MS23670 dgv1834e1 5 104475298 104522482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20451,essv25062 M 271 0 0 "" NA06994,NA12892 dgv1835e1 5 104475298 104555970 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18024,essv25165 M 271 0 0 "" NA11839,NA12878 dgv6262n71 5 104480554 104537653 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882579,nsv882578 M 6533 0 2 "" MS16531,SP58416 dgv6263n71 5 104486852 104778943 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882580,nsv882593,nsv882594,nsv882611 M 6533 0 4 "" IS32167,IS41982,MS10737,MS15921 dgv6264n71 5 104493894 104571804 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882582,nsv882584,nsv882581,nsv882585,nsv882587,nsv882586,nsv882599 M 6533 0 12 "" IS30742,IS30838,IS31166,IS31564,IS33894,IS36170,MS10098,MS10227,MS10802,MS11307,SP51281,SP81566 nsv882583 5 104498285 104537653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568623,nssv1569224,nssv1579289 M 6533 0 3 "" IS31323,IS31553,IS35083 dgv6265n71 5 104498285 104576058 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv882600,nsv882588 M 6533 2 27 "" IS30532,IS31041,IS31082,IS31123,IS31286,IS31335,IS31768,IS32289,IS33475,IS33839,IS34748,IS34856,IS35145,IS35498,IS36656,IS36787,IS38148,IS38183,IS38330,IS38431,IS39081,IS39944,IS41128,MS11669,MS13095,MS13154,MS23290,MS24045,MS25241 dgv6266n71 5 104498285 104615751 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882589,nsv882590 M 6533 0 3 "" IS33530,IS33864,IS41292 nsv882591 5 104498285 104624389 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574064,nssv1569326,nssv1594132,nssv1591698,nssv1536525,nssv1535565,nssv1541425,nssv1571240,nssv1583570 M 6533 1 8 "" IS31563,IS32653,IS33507,IS36533,IS39011,IS39716,MS12266,MS12827,MS15312 nsv882592 5 104498285 104688984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585006 S 6533 0 1 "" IS37226 dgv6267n71 5 104498285 105201935 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882595,nsv882597,nsv882596 M 6533 0 3 "" IS31179,IS31729,MS15199 nsv327849 5 104501166 104509076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346427 M 24 "" dgv6268n71 5 104501925 104543063 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882603,nsv882598 M 6533 7 0 "" IS30925,IS31090,IS32803,IS34395,IS36442,IS37744,IS38646 dgv6269n71 5 104501925 104624389 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882602,nsv882601 M 6533 2 0 "" IS41340,IS41906 nsv433476 5 104507657 104514704 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463357 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv882604 5 104514704 104562047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508235 S 6533 1 0 "" SP54725 nsv882605 5 104532646 104576058 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553792,nssv1547950,nssv1533536,nssv1545802,nssv1581979,nssv1553100,nssv1554538 M 6533 1 6 "" IS35771,MS11237,MS16949,MS17642,MS19736,MS20302,MS20854 nsv882606 5 104532646 104591075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560978 S 6533 0 1 "" MS24785 dgv6270n71 5 104532646 104624389 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882607,nsv882610 M 6533 3 0 "" IS41687,MS17842,MS26061 nsv4945 5 104533957 104566897 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4854 S 9 1 0 "" NA19129 nsv818372 5 104537653 104580203 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416352 S 112 0 1 "" NA18855 nsv471033 5 104537653 104630752 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545155 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01090 nsv882608 5 104538869 104591075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567548 S 6533 1 0 "" IS31117 nsv882609 5 104538869 104624389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566812 S 6533 0 1 "" IS30925 nsv830435 5 104556562 104726814 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444952,nssv1444954,nssv1444955,nssv1444953 M 95 3 1 "" nsv462367 5 104558803 104675112 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538547 S 1557 0 1 "" NINDS_156 nsv524355 5 104571804 104682824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700264 S 2026 0 1 "" esv2526843 5 104618134 104619770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228127 S 1 0 1 "" NA18507 esv2084848 5 104618655 104619383 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844343 S 1 0 1 "" NA18507 nsv329930 5 104618843 104619164 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348508 M 24 "" dgv6271n71 5 104631946 104795369 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882614,nsv882613,nsv882615 M 6533 0 3 "" IS35572,IS40940,MS15312 esv269526 5 104678743 104679080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540820,essv2570576,essv2559411,essv2564263,essv2530828,essv2530509,essv2532217,essv2569311,essv2578622,essv2550146,essv2558885,essv2527157,essv2523567,essv2540554,essv2539684,essv2519598,essv2531055,essv2541883,essv2569058,essv2534020,essv2522457,essv2531484,essv2575571,essv2538613,essv2560557,essv2524135,essv2568504,essv2545008,essv2560252,essv2551343,essv2533021 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11831,NA12044,NA12776,NA12828,NA12873,NA18486,NA18505,NA18508,NA18510,NA18511,NA18516,NA18522,NA18537,NA18552,NA18563,NA18566,NA18573,NA18856,NA18861,NA18916,NA18960,NA18961,NA19099,NA19108,NA19116,NA19129,NA19147,NA19172,NA19190,NA19257 dgv1836e1 5 104685688 104853617 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4845,esv4,essv9457 M 271 0 0 "" NA18540,NA19208 nsv436707 5 104693681 104697282 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466234 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv882616 5 104701995 104828255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557646 S 6533 0 1 "" MS22797 dgv6272n71 5 104701995 105108934 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882620,nsv882617,nsv882625,nsv882624,nsv882623,nsv882628,nsv882618 M 6533 0 12 "" IS30899,IS31074,IS31706,IS31904,IS33196,IS37226,IS37999,IS41043,IS41094,MS18847,MS18978,MS21252 dgv6273n71 5 104737791 104902181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882621,nsv882619,nsv882627,nsv882626 M 6533 0 5 "" IS31137,IS31259,IS35742,IS35771,MS21470 nsv882622 5 104745638 104869821 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532589,nssv1565942,nssv1591699,nssv1584395 M 6533 1 3 "" IS30539,IS36981,IS39011,MS10778 nsv471034 5 104762661 105035114 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545156,nssv545157 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876,HGDP00890 dgv6274n71 5 104778943 104869821 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882630,nsv882629 M 6533 3 0 "" SP50997,SP53987,SP81512 nsv520632 5 104812301 104840651 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678776,nssv673364 M 2026 0 2 "" dgv6275n71 5 104812301 105045010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882633,nsv882631,nsv882634 M 6533 0 6 "" IS30597,IS30742,IS31067,IS34489,IS35100,IS39100 nsv882632 5 104817326 104908414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550820 S 6533 0 1 "" MS18620 nsv10738 5 104847112 104849492 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16020 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv6276n71 5 104873156 105023365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882638,nsv882637,nsv882635,nsv882636 M 6533 0 10 "" IS30490,IS30553,IS30616,IS30667,IS33566,IS34407,IS35717,IS36533,IS40067,MS11467 esv2484128 5 104876380 104883732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222144 S 1 0 1 "" NA18507 esv1917032 5 104876632 104883055 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787434 S 1 0 1 "" NA18507 nsv509986 5 104900801 104906801 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622097,nssv623985,nssv618214 M 4 0 3 "" CHM,NA10860,NA18994 esv1979180 5 104904838 104905204 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762076 S 1 0 1 "" NA18507 esv988484 5 104904951 104905039 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568048 S 3 0 1 "" HuRef esv1349720 5 104904951 104905040 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795500 S 2 0 1 "" HuRef nsv328392 5 104904952 104905040 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346970 M 24 "" dgv6277n71 5 104926605 105023365 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882639,nsv882640,nsv882641 M 6533 0 3 "" IS31554,MS23566,MS25751 nsv823162 5 104957784 104964282 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425762 S 31 0 1 "" AK4 dgv6278n71 5 104962145 105035114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882642,nsv882643 M 6533 0 2 "" IS30764,MS17697 dgv6279n71 5 104962145 105123149 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882646,nsv882644,nsv882645,nsv882647 M 6533 0 4 "" IS30143,IS31373,IS35229,MS15312 esv987742 5 104994808 104995160 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574445 S 3 0 1 "" HuRef nsv329885 5 104994811 104995161 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348463 M 24 "" nsv823163 5 104994843 104995296 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427491,nssv1429805 M 31 2 0 "" AK14,AK8 nsv523866 5 104997857 105020813 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699704 S 2026 0 1 "" esv21986 5 105031758 105035610 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12594 S 451 0 1 "" NA19190 dgv6280n71 5 105050689 105237124 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882648,nsv882652,nsv882650 M 6533 0 3 "" IS31137,IS33616,IS33811 nsv882649 5 105056771 105123149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515242 S 6533 0 1 "" SP56143 nsv882651 5 105084017 105179577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568283 S 6533 0 1 "" IS31228 nsv328214 5 105114394 105114453 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346792 M 24 "" esv1133062 5 105135368 105135552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784540 S 2 0 1 "" HuRef nsv4946 5 105147941 105192455 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4602 S 9 0 1 "" NA19129 nsv4947 5 105149153 105181826 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2536 S 9 1 0 "" NA18555 nsv830436 5 105220169 105431652 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444956 S 95 0 1 "" nsv882653 5 105300831 105555894 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568940 S 6533 0 1 "" IS31373 esv2389016 5 105305808 105306224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900419 S 1 0 1 "" NA18507 dgv6281n71 5 105325428 105481256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882656,nsv882654 M 6533 0 2 "" IS31205,IS35742 dgv6282n71 5 105336245 105712908 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882655,nsv882660 M 6533 0 2 "" IS34599,MS18620 dgv6283n71 5 105354420 105568833 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882657,nsv882665,nsv882659,nsv882664,nsv882663 M 6533 0 13 "" IS30537,IS30597,IS30899,IS31401,IS31758,IS35498,IS36244,IS37065,IS38463,MS10727,MS18847,MS18978,MS22104 nsv830438 5 105364289 105526590 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444957 S 95 1 0 "" nsv471035 5 105378325 105433066 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545158 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 dgv6284n71 5 105378325 105481256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882658,nsv882662 M 6533 0 2 "" IS31729,IS35100 dgv719n27 5 105383789 105433773 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462370,nsv462371,nsv462369 M 1557 0 3 "" HGDP00738,HGDP00926,HGDP01345 nsv882661 5 105392262 105433773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499530 S 6533 0 1 "" SP50144 dgv6285n71 5 105405537 105632419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882668,nsv882666 M 6533 0 2 "" IS41043,SP51377 nsv517604 5 105415344 105426374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652487,nssv685607 M 2026 0 2 "" nsv527384 5 105426374 105437543 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703819 S 2026 1 0 "" nsv882667 5 105426374 105535442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574721 S 6533 0 1 "" IS33616 esv1168270 5 105438717 105438717 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858890 S 2 1 0 "" HuRef nsv428123 5 105503834 106053249 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450491 S 62 0 1 "" HGDP00450 nsv462373 5 105535442 105823874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538552 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00450 nsv471036 5 105535442 105983683 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545159 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00450 dgv6286n71 5 105647640 105964229 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882669,nsv882671 M 6533 0 2 "" IS31373,MS18847 nsv882670 5 105656509 105756337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499538 S 6533 0 1 "" SP50120 nsv517250 5 105663724 105667441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654122,nssv691716 M 2026 0 2 "" nsv527460 5 105663724 105691545 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703902 S 2026 0 1 "" nsv882672 5 105701359 105846380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583892 S 6533 0 1 "" IS36722 esv269974 5 105711274 105711637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494642,essv2501506,essv2506969,essv2509474 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA19093,NA19102,NA19129 esv2630253 5 105749567 105755339 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247328 S 1 0 1 "" NA18507 nsv327704 5 105751175 105751362 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346282 M 24 "" esv2585539 5 105761350 105762929 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335728 S 1 0 1 "" NA18507 nsv882673 5 105779249 106017378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551762 S 6533 0 1 "" MS18978 esv2644706 5 105844188 105845685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199254 S 1 0 1 "" NA18507 nsv521978 5 105894761 105923201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694745 S 2026 0 1 "" nsv524260 5 105904705 105932644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700157 S 2026 0 1 "" nsv521076 5 105922009 105932644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681313,nssv689294,nssv686583 M 2026 0 3 "" esv29268 5 105922318 105923496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15927 S 451 0 5 "" NA12828,NA18502,NA18861,NA19114,NA19147 nsv823164 5 105922418 105923236 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426662,nssv1424212,nssv1426458 M 31 0 3 "" AK6,NA18582,NA18947 esv1335324 5 105927773 105927773 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807542 S 2 1 0 "" HuRef esv2449796 5 105927773 105930202 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336767 S 1 0 1 "" NA18507 nsv509081 5 105953853 106009948 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620829 S 4 1 0 "" NA15510 esv267608 5 105963237 105969327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565668,essv2521263,essv2542461,essv2545626,essv2548441,essv2525221,essv2547539,essv2565508,essv2564314,essv2561960,essv2557140,essv2569684,essv2544806,essv2563048,essv2540412,essv2561270,essv2549303,essv2559916,essv2565962,essv2567679,essv2535496,essv2578489,essv2533442,essv2530115,essv2534396,essv2543301,essv2537811 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11829,NA11894,NA11919,NA12003,NA12045,NA12156,NA12717,NA12812,NA12828,NA12874,NA18501,NA18520,NA18526,NA18532,NA18552,NA18562,NA18564,NA18570,NA18572,NA18577,NA18608,NA18940,NA18944,NA18949,NA18959,NA18965 nsv462375 5 105977314 106027095 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538553 S 1557 0 1 "" 1780862459_A nsv523789 5 105995027 106000047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699616 S 2026 0 1 "" esv2752055 5 106062696 106308414 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982930,essv6982929 M 771 0 1 "" BEC_527 nsv4948 5 106111810 106145622 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8129 S 9 1 0 "" NA12156 esv273742 5 106112824 106113080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584487,essv2583495 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv25691 5 106117187 106118241 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13851 S 451 1 0 "" NA18916 dgv6287n71 5 106124339 106283657 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882674,nsv882678 M 6533 0 2 "" IS31137,IS35083 dgv6288n71 5 106144058 106246642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882677,nsv882676,nsv882675 M 6533 0 3 "" IS31046,IS31067,IS37226 nsv818373 5 106183437 106243338 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418455 S 112 0 1 "" NA19193 nsv462377 5 106186994 106243338 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538554 S 1557 0 1 "" NINDS_146 esv268515 5 106208770 106208855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519258,essv2516613,essv2517197 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12814,NA18970 nsv830439 5 106219937 106411727 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444958 S 95 1 0 "" nsv518559 5 106251435 106288520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696002 S 2026 0 1 "" nsv818374 5 106251435 106288520 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418069 S 112 0 1 "" NA11882 dgv1837e1 5 106255008 106286649 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv938,essv24320 M 271 0 0 "" NA11882 nsv10740 5 106255267 106268927 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13657 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv823166 5 106256709 106262638 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436619 S 31 0 1 "" NA18542 nsv515018 5 106257544 106261008 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627028 S 1414 0 0 "" nsv441960 5 106257572 106261016 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1296255 5 106259864 106259918 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637320 S 2 0 1 "" HuRef esv995052 5 106260826 106269524 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565519 S 3 0 1 "" HuRef esv1717168 5 106261176 106261176 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301724 S 2 1 0 "" HuRef nsv513253 5 106262404 106267954 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626759 S 1 0 1 "" 1 esv23443 5 106276433 106283683 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11523 S 451 1 0 "" NA18916 nsv882679 5 106291096 106427617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585346 S 6533 0 1 "" IS37428 nsv525317 5 106335907 106339147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701426 S 2026 0 1 "" nsv513254 5 106352410 106354473 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626760 S 1 0 1 "" 1 esv24605 5 106352579 106354328 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18331 S 451 15 4 "" NA07045,NA11995,NA12044,NA12156,NA12239,NA12489,NA12878,NA15510,NA18502,NA18511,NA18523,NA18861,NA18907,NA18916,NA19108,NA19114,NA19129,NA19225,NA19240 dgv959n67 5 106352579 106354443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823169,nsv823168,nsv823167 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820881 5 106352579 106354443 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420537 S 1 0 1 "" NA10851 esv2922 5 106352593 106354471 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25363 S 1 0 1 Single Asian sample YH "" YH nsv819315 5 106352724 106354865 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419393 S 2 1 0 "" AK1 nsv823170 5 106354192 106701594 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438827 S 31 0 1 "" NA18973 esv2752056 5 106450548 106591000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986209,essv6982606,essv6982605,essv6982604,essv6986210 M 771 1 0 "" BEC_57 dgv1838e1 5 106519625 106579710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5274,esv193,essv22887 M 271 0 0 "" NA12760,NA18624 dgv6289n71 5 106521249 106601860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882680,nsv882681 M 6533 0 2 "" IS31205,IS32150 nsv517277 5 106681224 106688429 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693964,nssv654189 M 2026 0 2 "" nsv519799 5 106725384 106725750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688893,nssv658771 M 2026 0 2 "" esv34018 5 106748811 107138405 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 EFNA5 nsv527761 5 106753590 106756485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704248 S 2026 0 1 EFNA5 esv268824 5 106763871 106764054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505068,essv2510550,essv2494292,essv2494842,essv2498502,essv2505689,essv2510867,essv2498897,essv2510417,essv2497022,essv2493892,essv2501884,essv2498101,essv2502238 M 157 14 0 Samples from several populations that are part of the HapMap project. EFNA5 NA12828,NA18501,NA18502,NA18519,NA18858,NA18861,NA19116,NA19138,NA19172,NA19190,NA19210,NA19239,NA19240,NA19257 esv272484 5 106763886 106764123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584600,essv2583449 M 7 2 0 Samples from several populations that are part of the HapMap project. EFNA5 NA19239,NA19240 nsv820161 5 106765769 106766980 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419198 S 2 0 1 EFNA5 AK1 esv1464984 5 106769553 106769661 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059790 S 2 0 1 EFNA5 HuRef nsv462379 5 106817663 106834337 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538555 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFNA5 HGDP01278 nsv471037 5 106817663 106834337 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545160 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFNA5 HGDP01278 nsv328216 5 106839658 106839658 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346794 M 24 EFNA5 esv2036103 5 106920719 106921122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821302 S 1 0 1 EFNA5 NA18507 nsv328213 5 106920823 106920923 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346791 M 24 EFNA5 esv2633190 5 106945210 106946809 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277329 S 1 0 1 EFNA5 NA18507 nsv819976 5 106997434 106998547 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419177 S 2 1 0 EFNA5 AK1 nsv4949 5 107030590 107064287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2702 S 9 1 0 EFNA5 NA18555 esv2464643 5 107096448 107097841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191646 S 1 0 1 "" NA18507 nsv830440 5 107102015 107306804 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444959 S 95 1 0 FBXL17 nsv329767 5 107189596 107193077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348345 M 24 "" nsv328163 5 107190762 107190978 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346741 M 24 "" nsv518663 5 107205280 107223723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696113 S 2026 0 1 FBXL17 esv22701 5 107226369 107227157 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21390 S 451 0 3 FBXL17 NA11894,NA11993,NA12776 nsv882682 5 107241260 107486235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586773 S 6533 0 1 FBXL17 IS37975 esv273469 5 107307751 107308071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580251,essv2580491 M 7 2 0 Samples from several populations that are part of the HapMap project. FBXL17 NA12878,NA12891 nsv327830 5 107365805 107368693 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346408 M 24 FBXL17 esv2528556 5 107394252 107395721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167269 S 1 0 1 FBXL17 NA18507 nsv830441 5 107478291 107642456 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444960 S 95 0 1 FBXL17 nsv518369 5 107487428 107497423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695795 S 2026 0 1 FBXL17 nsv882683 5 107504400 107796994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579830 S 6533 0 1 FBXL17 IS35181 esv2621797 5 107530456 107531882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307453 S 1 0 1 FBXL17 NA18507 nsv882684 5 107549576 107723457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568859 S 6533 0 1 FBXL17 IS31369 nsv830442 5 107567049 107724919 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444961 S 95 1 0 FBXL17 dgv6290n71 5 107592645 107743645 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882687,nsv882685,nsv882688 M 6533 0 8 FBXL17 IS30742,IS33894,IS35229,IS39090,IS40067,MS13292,MS18830,MS18847 nsv882686 5 107592645 107796994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565943 S 6533 0 1 FBXL17 IS30539 esv998139 5 107592894 107596081 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564725 S 3 1 0 FBXL17 HuRef nsv4950 5 107615677 107665247 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv484 S 9 0 1 FBXL17 NA19240 nsv882689 5 107623282 108327643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559887 S 6533 1 0 FBXL17,FER MS24207 nsv499245 5 107647202 107657494 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585960 S 9 0 1 FBXL17 esv2166597 5 107696468 107696950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4778944 S 1 0 1 FBXL17 NA18507 nsv509987 5 107820212 107826212 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618215 S 4 0 1 "" CHM esv22928 5 107822768 107823790 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14828 S 451 0 1 "" NA18508 nsv882690 5 107862146 107982384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539554 S 6533 1 0 "" MS14359 nsv4951 5 107930446 107964622 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8130 S 9 1 0 "" NA12156 esv26617 5 107959337 107960295 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15590 S 451 0 1 "" NA18502 esv1184832 5 107991693 107991693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660104 S 2 1 0 "" HuRef nsv329657 5 107991694 107991694 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348235 M 24 "" nsv523619 5 108027404 108044681 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699416 S 2026 1 0 "" esv2467253 5 108053930 108054855 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233419 S 1 1 0 "" NA18507 esv271374 5 108054458 108054795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519315,essv2515374,essv2518545,essv2514904,essv2515685,essv2518135,essv2514463,essv2518967,essv2513816 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12249,NA12287,NA12812,NA12815,NA12872,NA12874,NA19141,NA19143 nsv471039 5 108161866 108272988 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545161 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FER HGDP00903 nsv327356 5 108207774 108207774 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345934 M 24 FER nsv882691 5 108257659 108394372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551763 S 6533 0 1 FER MS18978 nsv512857 5 108293542 108294189 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625498 S 1 1 0 FER 1 esv2502982 5 108293740 108294305 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386341 S 1 1 0 FER NA18507 nsv525993 5 108316244 108327643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702218 S 2026 0 1 FER esv2450464 5 108332904 108334371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176370 S 1 0 1 FER NA18507 nsv4952 5 108352045 108397252 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8132 S 9 0 1 FER NA12156 nsv830443 5 108354390 108524622 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444964 S 95 1 0 FER nsv882692 5 108419559 108502065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551764 S 6533 0 1 FER MS18978 dgv6291n71 5 108419559 108552315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882694,nsv882693 M 6533 0 2 FER IS30432,MS10737 nsv4953 5 108471804 108516646 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8133 S 9 0 1 FER NA12156 nsv509988 5 108475721 108481721 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621267 S 4 0 1 FER NA15510 esv29579 5 108565519 108583351 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15521,esv17811 M 451 5 0 "" NA12239,NA12489,NA19108,NA19114,NA19225 nsv4955 5 108605845 108639751 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9673,nssv2537,nssv4855,nssv485 M 9 0 4 "" NA18507,NA18555,NA19129,NA19240 nsv508375 5 108615527 108651945 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622530 S 4 0 1 "" NA18994 esv2602056 5 108622347 108629659 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367114 S 1 0 1 "" NA18507 nsv436457 5 108622427 108629074 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466235 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv513255 5 108622491 108629130 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626761 S 1 0 1 "" 1 esv2305572 5 108622797 108629223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815649 S 1 0 1 "" NA18507 nsv499589 5 108622973 108629036 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585961 S 9 0 1 "" nsv328917 5 108622974 108629020 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347495 M 24 "" esv6506 5 108622987 108629021 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28947 S 1 0 1 "" SJK nsv327359 5 108716433 108716749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345937 M 24 PJA2 esv23192 5 108717335 108718409 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16707 S 451 1 0 PJA2 NA07045 esv1229231 5 108717569 108717666 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969193 S 2 0 1 PJA2 HuRef esv1180527 5 108717736 108717736 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659065 S 2 1 0 PJA2 HuRef esv267547 5 108720884 108721165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558037,essv2521215,essv2556521,essv2558451,essv2576129,essv2554920,essv2524965 M 157 7 0 Samples from several populations that are part of the HapMap project. PJA2 NA07357,NA10851,NA11894,NA11994,NA12750,NA12814,NA12872 esv1411220 5 108786302 108786365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006660 S 2 0 1 "" HuRef nsv328528 5 108786330 108786387 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347106 M 24 "" nsv519138 5 108842980 108844477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696616 S 2026 0 1 "" nsv882695 5 108895249 108975186 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552123 S 6533 0 1 "" MS19226 esv22658 5 108896197 108897730 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16728 S 451 0 1 "" NA19108 esv271165 5 108941863 108942056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511000,essv2505100,essv2495369,essv2508344,essv2504279,essv2506220,essv2497320,essv2505860,essv2513404,essv2495701,essv2503151,essv2502379,essv2512395,essv2493079,essv2500575,essv2495198,essv2502669,essv2505625,essv2504714,essv2506446,essv2509473 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA11995,NA12287,NA12749,NA18505,NA18523,NA18545,NA18861,NA18907,NA18916,NA18943,NA18948,NA18949,NA18951,NA18956,NA18964,NA18965,NA19005,NA19099,NA19108,NA19129 nsv462380 5 109076032 109161367 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538556 S 1557 0 1 MAN2A1,MIR548C,MIR548Z 1782681080_A esv267470 5 109078870 109079216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540752,essv2521267,essv2526002,essv2536552,essv2522964,essv2531893,essv2570411,essv2576637,essv2520677,essv2547165,essv2558573,essv2564351,essv2576333,essv2538885,essv2544713,essv2523781,essv2553097,essv2541345,essv2542884,essv2540240,essv2524493,essv2565107,essv2534900,essv2561109,essv2549538,essv2519826,essv2560165,essv2522278,essv2566026,essv2531039,essv2532920,essv2567678,essv2567631,essv2541484,essv2569928,essv2563929,essv2553395,essv2572193,essv2559282,essv2572986,essv2555440,essv2533478,essv2567176,essv2566435,essv2530177,essv2573912,essv2527405,essv2534215,essv2522479,essv2531396,essv2573468,essv2543320,essv2577013,essv2525607,essv2526842,essv2574550,essv2536116 M 157 57 0 Samples from several populations that are part of the HapMap project. MAN2A1,MIR548C,MIR548Z NA06986,NA11831,NA11894,NA11918,NA11920,NA11931,NA12006,NA12044,NA12154,NA12716,NA12717,NA12750,NA12751,NA12814,NA18519,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19005,NA19138 nsv327532 5 109078904 109078904 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346110 M 24 MAN2A1,MIR548C,MIR548Z esv6990 5 109085686 109085768 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29431 S 1 1 0 MAN2A1,MIR548C,MIR548Z SJK esv6208 5 109140687 109140750 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28649 S 1 1 0 MAN2A1,MIR548C,MIR548Z SJK esv2540552 5 109147106 109148111 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309849 S 1 1 0 MAN2A1,MIR548C,MIR548Z NA18507 esv267440 5 109147317 109147641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515693,essv2519077,essv2518329 M 157 3 0 Samples from several populations that are part of the HapMap project. MAN2A1,MIR548C,MIR548Z NA12815,NA19141,NA19240 esv273187 5 109147317 109147641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581197 S 7 1 0 Samples from several populations that are part of the HapMap project. MAN2A1,MIR548C,MIR548Z NA19240 nsv830444 5 109254707 109396677 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444965 S 95 0 1 "" esv271129 5 109273828 109274118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565850,essv2543917,essv2554071,essv2540207,essv2557134,essv2569434,essv2562466,essv2529452,essv2575633,essv2571423,essv2545719,essv2574364 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11992,NA12287,NA18489,NA18501,NA18508,NA18909,NA19093,NA19099,NA19238,NA19239,NA19240 esv272412 5 109273830 109274170 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584318,essv2584671,essv2583302 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv520885 5 109291648 109333621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697670 S 2026 0 1 "" nsv521487 5 109296474 109322362 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698098 S 2026 1 0 "" nsv882696 5 109308782 109461790 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587468 S 6533 0 1 "" IS38056 esv4877 5 109324933 109325447 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27318 S 1 0 1 Single Asian sample YH "" YH esv8230 5 109324978 109325307 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30671 S 1 0 1 "" SJK dgv207n6 5 109324989 109325323 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329167,nsv329168 M 24 "" nsv462382 5 109327045 109447617 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538557 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00100 esv272329 5 109355023 109355286 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581461 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv527271 5 109371755 109429310 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703681 S 2026 0 1 "" nsv516335 5 109386880 109403379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667665,nssv671026,nssv697452,nssv691683,nssv673641,nssv659455,nssv689364,nssv689545,nssv689428 M 2026 0 9 "" esv33005 5 109394663 109403596 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98488 S 51 0 1 "" 22352 nsv882697 5 109403379 109486877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501305,nssv1509509 M 6533 0 2 "" SP51035,SP54808 nsv436986 5 109417669 109421729 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466867 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12753 nsv882698 5 109429839 109447617 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509497 S 6533 1 0 "" SP54803 nsv436987 5 109448930 109454399 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466868 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv437954 5 109452450 109453291 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468706,nssv468705 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10839,NA12005 nsv523477 5 109461790 109506683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699240 S 2026 0 1 "" nsv882699 5 109468144 109541241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570493 S 6533 0 1 "" IS32150 esv25529 5 109487419 109503216 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13544 S 451 0 8 "" NA18508,NA18523,NA18907,NA18916,NA19114,NA19147,NA19225,NA19257 nsv4956 5 109492318 109523678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9883,nssv3378,nssv10468,nssv486,nssv2703,nssv6017 M 9 6 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19240 nsv509082 5 109500637 109526781 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620830,nssv618043,nssv623452 M 4 3 0 "" CHM,NA15510,NA18994 esv2647424 5 109506459 109509270 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358834 S 1 0 1 "" NA18507 nsv527275 5 109506683 109511559 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703685 S 2026 1 0 "" nsv522011 5 109506683 109514960 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694780 S 2026 1 0 "" nsv462384 5 109506683 109527102 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538559 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00144 esv988424 5 109507985 109510256 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564977 S 3 1 0 "" HuRef esv1279876 5 109508168 109508168 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338445 S 2 1 0 "" HuRef nsv521017 5 109510944 109533707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679959,nssv693536 M 2026 0 2 "" esv2595896 5 109595169 109595505 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218933 S 1 1 0 "" NA18507 esv270183 5 109597861 109598010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501354,essv2502245 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19257 essv22481 5 109669759 110056060 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. TMEM232 NA11882 dgv1839e1 5 109669759 110180038 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv862,essv24332 M 271 0 0 SLC25A46,TMEM232 NA11882 nsv823171 5 109694429 109696538 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436621 S 31 0 1 "" NA18542 nsv10741 5 109724498 109725790 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15477 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv830445 5 109724665 109931165 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444966 S 95 1 0 TMEM232 nsv882700 5 109778421 109834588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535720 S 6533 0 1 TMEM232 MS12432 nsv818375 5 109783199 110084156 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418071 S 112 0 1 TMEM232 NA11882 nsv882701 5 109786863 109861626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555362 S 6533 0 1 TMEM232 MS21294 esv34732 5 109793062 110093410 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987411,essv6987410,essv6978535,essv6978534 M 771 0 1 TMEM232 NA11882 dgv6292n71 5 109793151 109980882 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882703,nsv882702,nsv882704 M 6533 0 3 TMEM232 IS31205,IS37969,IS41862 nsv10742 5 109793976 109802884 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15507,nssv16050,nssv13670,nssv15704 M 31 0 4 Samples from several populations that are part of the HapMap project. TMEM232 NA18517,NA18853,NA19132,NA19221 nsv823172 5 109861235 109862146 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425765 S 31 0 1 TMEM232 AK4 nsv10743 5 109879999 109882188 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15537,nssv15283,nssv14189 M 31 3 0 Samples from several populations that are part of the HapMap project. TMEM232 NA18504,NA19132,NA19173 nsv882705 5 109886720 110022505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526209,nssv1523170 M 6533 0 2 TMEM232 SP53728,SP57073 nsv525752 5 109974310 110116146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701919 S 2026 0 1 SLC25A46,TMEM232 esv269057 5 109986779 109987087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504043,essv2505181,essv2501257 M 157 3 0 Samples from several populations that are part of the HapMap project. TMEM232 NA18505,NA18853,NA19093 nsv4957 5 110010902 110035840 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8134 S 9 0 1 TMEM232 NA12156 nsv819920 5 110022162 110065677 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418735 S 2 1 0 TMEM232 AK1 nsv830446 5 110059905 110166245 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444967 S 95 0 1 SLC25A46,TMEM232 esv272991 5 110113787 110113983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579225 S 7 1 0 Samples from several populations that are part of the HapMap project. SLC25A46 NA19239 esv268465 5 110113789 110113970 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536368,essv2543965,essv2548250,essv2520433,essv2564474,essv2565548,essv2537214,essv2528556,essv2556860,essv2532304,essv2578765,essv2550224,essv2536826,essv2539011,essv2540387,essv2565194,essv2561066,essv2522171,essv2553459,essv2572254,essv2542172,essv2534132,essv2556065,essv2526754,essv2529672,essv2526549,essv2560745,essv2524146,essv2574838,essv2560404,essv2549618,essv2545767,essv2551347,essv2525005 M 157 34 0 Samples from several populations that are part of the HapMap project. SLC25A46 NA07357,NA11920,NA11992,NA12045,NA12716,NA12751,NA12812,NA12878,NA12891,NA18501,NA18505,NA18510,NA18511,NA18517,NA18519,NA18552,NA18558,NA18562,NA18571,NA18605,NA18609,NA18856,NA18916,NA18956,NA19005,NA19093,NA19114,NA19116,NA19129,NA19138,NA19190,NA19225,NA19239,NA19257 nsv830447 5 110213987 110439873 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444968 S 95 0 1 TSLP nsv882706 5 110265287 110347258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502888 S 6533 0 1 "" SP51440 esv995391 5 110281683 110290792 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564174 S 3 0 1 "" HuRef esv268504 5 110289338 110289484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496783,essv2510717,essv2501105,essv2500968,essv2498623,essv2493913,essv2504780,essv2498838,essv2499725 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18516,NA18856,NA18858,NA18871,NA19099,NA19138,NA19225 esv26264 5 110311433 110313387 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14108 S 451 0 1 "" NA18511 nsv528857 5 110383304 110392349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705536 S 2026 0 1 "" esv2552424 5 110412498 110413940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188103 S 1 0 1 "" NA18507 nsv507282 5 110446732 110452732 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620317,nssv622949,nssv621811 M 4 3 0 "" NA10860,NA15510,NA18994 nsv519338 5 110455246 110467408 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655481,nssv678407,nssv692476 M 2026 3 0 WDR36 nsv882707 5 110463389 110549434 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547514 S 6533 1 0 WDR36 MS17414 nsv882708 5 110510389 110565251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558269 S 6533 1 0 "" MS23189 esv267392 5 110554241 110554590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506053,essv2507288,essv2506750 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18912,NA19108 nsv882709 5 110590503 110678864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564724 S 6533 0 1 CAMK4 IS30292 esv29054 5 110623268 110628472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9887 S 451 0 1 CAMK4 NA19257 esv271918 5 110661596 110667043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515887 S 157 1 0 Samples from several populations that are part of the HapMap project. CAMK4 NA12873 nsv823173 5 110680775 110766721 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438828 S 31 0 1 CAMK4 NA18973 esv269264 5 110685002 110685158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509835,essv2510870,essv2497053,essv2498252 M 157 4 0 Samples from several populations that are part of the HapMap project. CAMK4 NA18508,NA19116,NA19190,NA19240 esv274515 5 110685019 110685104 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581303 S 7 1 0 Samples from several populations that are part of the HapMap project. CAMK4 NA19240 nsv518727 5 110696599 110906451 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696177 S 2026 1 0 CAMK4,LOC100505678,STARD4 esv2647908 5 110722484 110723993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202206 S 1 0 1 CAMK4 NA18507 esv2313843 5 110722699 110723284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664473 S 1 0 1 CAMK4 NA18507 esv4209 5 110722789 110723242 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26650 S 1 0 1 Single Asian sample YH CAMK4 YH esv8952 5 110722814 110723163 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31393 S 1 0 1 CAMK4 SJK esv1341497 5 110722841 110723163 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699322 S 2 0 1 CAMK4 HuRef nsv328700 5 110722842 110723163 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347278 M 24 CAMK4 nsv830449 5 110777890 110949107 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444970,nssv1444969 M 95 1 1 CAMK4,LOC100505678,STARD4 nsv823174 5 110818944 110819923 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438830 S 31 0 1 CAMK4 NA18973 esv2095688 5 110883240 110883659 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579644 S 1 0 1 LOC100505678 NA18507 esv22530 5 110933830 110938939 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17759 S 451 0 1 LOC100505678 NA18861 nsv462385 5 110933970 110938684 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538560 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100505678 HGDP00264 nsv517462 5 110933970 110938684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694073,nssv682579,nssv671860,nssv702687,nssv678929,nssv675269,nssv677513,nssv653941,nssv682468,nssv686607,nssv665049,nssv684033,nssv670104,nssv662281,nssv656864,nssv675798,nssv691032,nssv684281,nssv670421,nssv654064,nssv659117,nssv666083,nssv661078,nssv691395,nssv690329,nssv668819,nssv654889,nssv681746,nssv658772,nssv659484,nssv667982,nssv669256,nssv673495,nssv673881,nssv686533,nssv673689,nssv680921,nssv685466,nssv681314,nssv665618,nssv672086,nssv674177,nssv656339,nssv681877,nssv653869,nssv656524,nssv676758,nssv685306,nssv674510,nssv680753,nssv684766,nssv687897,nssv674725,nssv689317,nssv676941,nssv691853,nssv682990,nssv667531,nssv655091,nssv684578,nssv658076,nssv666524 M 2026 0 62 LOC100505678 nsv818376 5 110933970 110938684 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418271,nssv1418269,nssv1416737 M 112 0 3 LOC100505678 NA19092,NA19094,NA19160 esv2422075 5 110933970 110938944 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016608,essv5055866,essv5047019,essv5058878,essv5014334,essv5031863,essv5084971,essv5044535,essv5051083,essv5136139,essv5002317,essv5133686,essv5040454,essv5003356,essv5026591,essv5034588,essv5109046,essv5152753,essv5081163,essv5024365,essv5063804,essv5045891,essv5100406,essv5009386,essv5089654,essv5150623,essv5146018,essv5094128,essv5129369,essv5074641,essv5051747,essv5116410,essv5075545,essv5014423,essv5121632,essv5066711,essv5080353,essv5142399,essv5063740,essv5130269,essv5031813,essv5027556,essv5106280,essv5109266,essv5116501,essv5075315,essv5053351,essv5007921,essv5145083,essv5016975,essv5127820,essv5098147,essv5017570,essv5123234,essv5140939,essv5070181,essv5048131,essv5035826,essv5109399,essv5138205,essv5054784,essv5022791,essv5068361,essv5130348,essv5161223,essv5157212,essv5132738,essv5027480,essv5141775 M 1184 0 69 LOC100505678 NA18497,NA18498,NA18520,NA18861,NA18909,NA18911,NA19094,NA19101,NA19118,NA19160,NA19174,NA19203,NA19314,NA19316,NA19324,NA19375,NA19376,NA19380,NA19384,NA19391,NA19397,NA19448,NA19469,NA19818,NA19914,NA19915,NA20294,NA20336,NA20337,NA20344,NA20345,NA20349,NA20364,NA20849,NA20869,NA20870,NA20871,NA20874,NA20888,NA21088,NA21094,NA21099,NA21102,NA21109,NA21112,NA21118,NA21123,NA21144,NA21317,NA21360,NA21361,NA21363,NA21365,NA21371,NA21415,NA21418,NA21421,NA21448,NA21485,NA21509,NA21523,NA21575,NA21576,NA21580,NA21647,NA21648,NA21723,NA21733,NA21768 nsv514318 5 110936712 110938320 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627764 S 1414 0 1 LOC100505678 nsv441961 5 110937230 110938944 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100505678 nsv507283 5 110953204 110959204 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622950,nssv621812,nssv617685,nssv620318 M 4 4 0 LOC100505678 CHM,NA10860,NA15510,NA18994 nsv327171 5 111018651 111018900 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345749 M 24 LOC100505678 nsv520213 5 111021804 111030720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697284 S 2026 0 1 LOC100505678 nsv4958 5 111045979 111078787 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv487 S 9 1 0 LOC100505678 NA19240 nsv328351 5 111048922 111055924 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346929 M 24 LOC100505678 nsv819569 5 111120357 111122075 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419312 S 2 1 0 C5orf13 AK1 dgv6293n71 5 111131157 111213224 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882711,nsv882710 M 6533 0 2 C5orf13 MS19587,MS21294 nsv882712 5 111144170 111260983 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556427 S 6533 0 1 C5orf13 MS22008 nsv882713 5 111427784 111473255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600732,nssv1578326 M 6533 0 2 "" IS34758,IS41921 nsv517988 5 111440235 111459912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695400 S 2026 0 1 "" nsv521846 5 111459912 111472421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694620 S 2026 0 1 "" nsv519077 5 111534650 111546917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696549 S 2026 0 1 EPB41L4A nsv882714 5 111683281 111835478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571012 S 6533 0 1 EPB41L4A,FLJ11235 IS32446 esv268133 5 111686554 111686763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540873,essv2521422,essv2525883,essv2542528,essv2570987,essv2576758,essv2535000,essv2554921,essv2569800,essv2562874,essv2542695,essv2540609,essv2524438,essv2564969,essv2539828,essv2519831,essv2559809,essv2565978,essv2531214,essv2532909,essv2567747,essv2567519,essv2541651,essv2563720,essv2553318,essv2535747,essv2578384,essv2555359,essv2566557,essv2527649,essv2555807,essv2522599,essv2531318,essv2573606,essv2543340,essv2572141,essv2525716,essv2526878,essv2538617,essv2537927,essv2532977,essv2554776 M 157 42 0 Samples from several populations that are part of the HapMap project. EPB41L4A NA07000,NA07051,NA07346,NA11831,NA11894,NA11918,NA11919,NA11993,NA12154,NA12249,NA12872,NA18520,NA18532,NA18550,NA18552,NA18555,NA18558,NA18563,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18603,NA18605,NA18608,NA18940,NA18943,NA18948,NA18952,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19108 nsv462386 5 111695471 111727216 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538561 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EPB41L4A HGDP00732 nsv437471 5 111710553 111719823 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467352 S 60 0 1 Samples from several populations that are part of the HapMap project. EPB41L4A NA19211 esv274937 5 111716649 111718915 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585618,essv2586129 M 1250 1 1 EPB41L4A nsv519008 5 111727216 111729809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696477 S 2026 0 1 EPB41L4A esv6662 5 111731728 111731790 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29103 S 1 1 0 EPB41L4A SJK dgv960n67 5 111814895 111820658 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823177,nsv823175 M 31 0 3 "" AK16,AK8,NA18570 esv274201 5 111832833 111833067 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579059,essv2579820 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv24268 5 111834159 111835524 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16280 S 451 0 1 "" NA18916 dgv6294n71 5 111864177 111922390 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882716,nsv882715 M 6533 0 2 "" SP52017,SP54162 nsv509989 5 111929361 111935361 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621268 S 4 0 1 "" NA15510 esv27131 5 111943706 111972806 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16282,esv20349 M 451 37 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819717 5 111963522 111975406 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418621 S 2 1 0 "" AK1 dgv961n67 5 111966601 111970670 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823181,nsv823178,nsv823179 M 31 17 0 "" AK12,AK8,NA18526,NA18537,NA18542,NA18547,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973 nsv821026 5 111966601 111973336 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420538 S 1 0 1 "" NA10851 dgv962n67 5 111967236 111975359 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823180,nsv823182 M 31 2 0 "" NA18542,NA18969 nsv515854 5 111970668 111971451 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671271,nssv665021,nssv675969,nssv656265,nssv680248,nssv665697,nssv659372,nssv678825,nssv688845 M 2026 0 9 "" nsv524230 5 111970668 111972372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700119 S 2026 0 1 "" nsv830450 5 111992069 112162409 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444971,nssv1444972 M 95 2 0 APC nsv462387 5 112081810 112152268 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538562 S 1557 0 1 APC NINDS_145 nsv4959 5 112178131 112197746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3379 S 9 1 0 APC NA12878 nsv4960 5 112228098 112246198 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8135 S 9 0 1 REEP5,SRP19 NA12156 esv26872 5 112245723 112246616 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18181 S 451 0 1 REEP5,SRP19 NA19257 esv269726 5 112296743 112297613 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498344,essv2497353,essv2504560,essv2507874,essv2506358,essv2508414,essv2510043 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18545,NA18563,NA18564,NA18566,NA18582,NA18593 nsv823183 5 112323742 112324200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436624 S 31 0 1 "" NA18542 nsv882717 5 112364487 112436843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596326 S 6533 0 1 DCP2,MCC IS40492 nsv509990 5 112394102 112400102 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618216 S 4 0 1 MCC CHM esv26027 5 112397462 112438674 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15902 S 451 1 0 MCC NA18511 nsv516887 5 112407558 112424073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689983,nssv654713 M 2026 0 2 MCC nsv528441 5 112434761 112436843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705036 S 2026 0 1 MCC esv22346 5 112505686 112506278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17160 S 451 0 2 MCC NA06985,NA12878 nsv329870 5 112505730 112506268 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348448 M 24 MCC esv1010186 5 112509014 112512850 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563638 S 3 1 0 MCC HuRef nsv512858 5 112509857 112509969 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625499 S 1 1 0 MCC 1 esv1419638 5 112509896 112509896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241661 S 2 1 0 MCC HuRef nsv882718 5 112547370 112702275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557811 S 6533 0 1 MCC MS22898 nsv882719 5 112596111 112734410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553344 S 6533 0 1 MCC MS19941 nsv471785 5 112651770 112652111 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646066 M 0.021 95 MCC nsv528805 5 112669549 112678650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705479 S 2026 0 1 MCC esv25166 5 112694740 112700150 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19580 S 451 0 1 MCC NA19108 esv1715529 5 112697433 112697433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367511 S 2 1 0 MCC HuRef esv1680514 5 112697468 112697468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213673 S 2 1 0 MCC HuRef nsv329948 5 112782023 112783736 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348526 M 24 MCC dgv6295n71 5 112887893 112939064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882723,nsv882720 M 6533 0 2 YTHDC2 SP54408,SP55847 nsv882721 5 112887893 112991387 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587671 S 6533 1 0 YTHDC2 IS38093 nsv882722 5 112896777 112927472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513667,nssv1503689 M 6533 0 2 YTHDC2 SP52094,SP55822 nsv882724 5 112896777 112961101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506755 S 6533 0 1 YTHDC2 SP54402 esv2540445 5 112908587 112910044 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310071 S 1 0 1 YTHDC2 NA18507 esv2162364 5 112909132 112909847 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751797 S 1 0 1 YTHDC2 NA18507 esv1743798 5 112909315 112909635 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199502 S 2 0 1 YTHDC2 HuRef dgv208n6 5 112909316 112909649 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327138,nsv327129 M 24 YTHDC2 nsv520674 5 112939064 112970719 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673855,nssv678035,nssv690687 M 2026 3 0 YTHDC2 esv2752057 5 112944297 112973891 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983663,essv6983662 M 771 1 0 YTHDC2 BEC_678 esv259838 5 112964144 112978416 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398593 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv4961 5 112973807 113019051 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8136 S 9 0 1 "" NA12156 nsv882725 5 112974949 113017800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586219,nssv1589182,nssv1593241,nssv1593349,nssv1589378,nssv1578520,nssv1574533 M 6533 0 7 "" IS33592,IS34803,IS37691,IS38309,IS38348,IS39386,IS39414 nsv471040 5 112991386 113009427 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545163,nssv545162 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00625,HGDP00722 nsv519536 5 112991387 113006470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656736,nssv679861,nssv699439 M 2026 0 3 "" dgv720n27 5 112993044 113010549 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462389,nsv462388 M 1557 0 2 "" HGDP00642,HGDP00722 nsv462390 5 113103994 113209188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538565 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00991 nsv471041 5 113103994 113209188 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545164 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00991 nsv507284 5 113146656 113152656 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617686 S 4 1 0 "" CHM nsv462391 5 113162633 113212110 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538566 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00808 nsv516041 5 113188389 113197319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659040,nssv676303,nssv663819,nssv665297,nssv662908,nssv652442,nssv684956,nssv674957,nssv663564,nssv705641,nssv663803,nssv688725,nssv692455,nssv671351,nssv675775,nssv689862,nssv668856,nssv665566,nssv668317,nssv680020,nssv682158,nssv669908,nssv655721,nssv688596 M 2026 0 24 "" nsv471042 5 113188389 113468791 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545166 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00854 esv272262 5 113219736 113219931 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580171,essv2580333,essv2579273 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 esv259434 5 113299076 113299351 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394216 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv462397 5 113355460 113363129 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538569 S 1557 0 1 "" 1780862227_A nsv515486 5 113355460 113363129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665340,nssv680633,nssv652292,nssv679812,nssv677176,nssv665022,nssv681771,nssv679343,nssv684108,nssv668645,nssv651830,nssv684807,nssv660038,nssv669810,nssv678578,nssv694022,nssv651742,nssv680233 M 2026 0 18 "" nsv882726 5 113432832 113583525 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544788 S 6533 1 0 "" MS16494 esv995920 5 113486937 113487259 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582775 S 3 0 1 "" HuRef nsv327885 5 113486937 113487259 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346463 M 24 "" nsv521754 5 113535053 113543706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694521 S 2026 0 1 "" nsv4962 5 113551960 113586845 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3380 S 9 1 0 "" NA12878 nsv882727 5 113576299 113630061 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599340 S 6533 0 1 "" IS41603 esv2545762 5 113593576 113597338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347364 S 1 0 1 "" NA18507 nsv328651 5 113594216 113596726 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347229 M 24 "" esv25581 5 113595149 113596480 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18561 S 451 0 4 "" NA18502,NA18916,NA19147,NA19225 nsv328147 5 113605348 113605397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346725 M 24 "" esv2273485 5 113626845 113627270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799928 S 1 0 1 "" NA18507 esv2362303 5 113635833 113636251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507308 S 1 0 1 "" NA18507 nsv882728 5 113679593 113759322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503650 S 6533 0 1 KCNN2 SP52093 nsv830451 5 113712200 113857732 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444975,nssv1444973 M 95 1 1 KCNN2 nsv882729 5 113771527 114525607 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537897 S 6533 1 0 KCNN2,TRIM36 MS13408 esv8535 5 113805213 113805289 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30976 S 1 1 0 KCNN2 SJK nsv830452 5 113826516 114003127 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444976 S 95 0 1 KCNN2 esv1418620 5 113982234 113982234 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111151 S 2 1 0 "" HuRef esv23775 5 114040545 114045143 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15742 S 451 0 1 "" NA12004 esv33387 5 114041728 114043755 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94148 S 51 0 1 "" 22394 nsv519511 5 114043490 114043669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656499,nssv693018,nssv672573,nssv679526,nssv663382 M 2026 0 5 "" esv269269 5 114047863 114048120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496434,essv2494059,essv2510400 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18871,NA19172 nsv882730 5 114056811 114102920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547611 S 6533 0 1 "" MS17492 esv271542 5 114119950 114120320 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510195,essv2494288,essv2502934,essv2498530,essv2497412,essv2495143,essv2501518,essv2504734,essv2509415,essv2499765 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA18502,NA18507,NA18858,NA18959,NA18964,NA19093,NA19099,NA19129,NA19225 nsv528757 5 114149797 114155692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705419 S 2026 0 1 "" nsv436463 5 114235164 114245133 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466236 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2421988 5 114235601 114238777 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152125,essv5041926,essv5105661,essv5005584,essv5066980,essv5116554,essv5053719,essv5138864,essv5023102,essv5064798,essv5124152,essv5052551,essv5089610,essv5039095,essv5065772,essv5029175,essv5160375,essv5048535,essv5089996,essv5148788,essv5101998,essv5043394,essv5067975,essv5055614,essv5077271,essv5084719,essv5065132,essv5134199,essv5101665,essv5129338,essv5056890,essv5075560 M 1184 0 32 "" NA18162,NA18484,NA18488,NA18498,NA18505,NA19122,NA19123,NA19160,NA19380,NA19381,NA19382,NA19393,NA19396,NA19397,NA19429,NA20582,NA21355,NA21362,NA21364,NA21381,NA21382,NA21387,NA21415,NA21418,NA21423,NA21425,NA21454,NA21455,NA21528,NA21599,NA21685,NA21740 nsv441962 5 114235601 114238777 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv27882 5 114236337 114239483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11275 S 451 0 1 "" NA18505 nsv514319 5 114238016 114239288 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627765 S 1414 0 1 "" nsv4963 5 114262330 114316296 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4856,nssv9412,nssv488 M 9 0 3 "" NA18517,NA19129,NA19240 nsv511293 5 114276286 114307813 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625155 S 1 0 1 "" 1 nsv513256 5 114282190 114290155 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626762 S 1 0 1 "" 1 nsv436491 5 114282597 114290600 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466237 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499738 5 114282831 114289330 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585962 S 9 0 1 "" esv25898 5 114283181 114290476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20661,esv11415,esv21161 M 451 0 9 "" NA11931,NA12044,NA18505,NA18916,NA19099,NA19114,NA19129,NA19147,NA19257 nsv514320 5 114285448 114287928 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627766 S 1414 0 1 "" esv2438587 5 114288459 114289976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374456 S 1 0 1 "" NA18507 nsv830453 5 114305160 114574435 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444977 S 95 1 0 PGGT1B,TRIM36 nsv508376 5 114341432 114364430 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622531 S 4 0 1 "" NA18994 nsv4964 5 114346575 114387197 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4857,nssv10469,nssv2538 M 9 0 3 "" NA18555,NA18956,NA19129 nsv499528 5 114353255 114362896 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585963 S 9 0 1 "" esv25938 5 114354069 114361912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20306 S 451 0 1 "" NA12004 esv270607 5 114383130 114383472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516599,essv2517836,essv2516867 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12878,NA12892 esv274147 5 114383135 114383467 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582179,essv2583269 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv2368017 5 114421443 114421982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933903 S 1 0 1 "" NA18507 nsv327353 5 114421570 114421836 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345931 M 24 "" nsv519235 5 114432705 114435560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696726 S 2026 0 1 "" nsv462398 5 114472922 114503673 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538570 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRIM36 HGDP00356 nsv830454 5 114481763 114635058 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444981,nssv1444980,nssv1444979,nssv1444978 M 95 1 3 CCDC112,PGGT1B,TRIM36 esv272655 5 114544098 114544557 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580708,essv2579445 M 7 2 0 Samples from several populations that are part of the HapMap project. TRIM36 NA19238,NA19240 dgv1840e1 5 114725159 114750943 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6091,essv750,essv5671 M 271 0 0 "" NA18605,NA18621,NA19003 dgv1841e1 5 114725159 114765482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv104,esv915 M 271 0 0 "" NA19005 dgv6296n71 5 114730402 114754250 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882732,nsv882733,nsv882731 M 6533 0 15 "" SP50921,SP51419,SP52019,SP52399,SP53349,SP53863,SP55469,SP55692,SP55856,SP56085,SP56094,SP57238,SP57469,SP57482,SP80955 nsv441963 5 114734342 114748984 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv205e55 5 114737000 114750943 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34634,esv34270,esv34713 M 771 0 3 "" NA18605,NA18621,NA19005 nsv527955 5 114755848 114755972 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704465 S 2026 0 1 "" esv2481947 5 114758580 114760225 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193190 S 1 0 1 "" NA18507 esv3702 5 114759122 114759608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26143 S 1 0 1 Single Asian sample YH "" YH dgv27e197 5 114759214 114759543 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2605198,esv2456463 M 1 0 1 "" NA18507 esv9023 5 114759223 114759537 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31464 S 1 0 1 "" SJK esv1731997 5 114759225 114759543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072525 S 2 0 1 "" HuRef esv2619373 5 114766918 114767900 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351469 S 1 1 0 "" NA18507 esv270342 5 114767602 114767919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514542,essv2516645,essv2519204,essv2516969,essv2514099,essv2514721,essv2515479,essv2518482,essv2515107,essv2516373,essv2515716,essv2518088,essv2515949,essv2514424,essv2517589,essv2517223,essv2513908,essv2518269,essv2519391,essv2513620 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA11894,NA11931,NA12043,NA12234,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18970,NA19143,NA19240 esv273647 5 114767602 114767919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581379,essv2581131 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv1688498 5 114767635 114767635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961016 S 2 1 0 "" HuRef nsv329207 5 114767636 114767636 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347785 M 24 "" esv2609149 5 114783720 114786398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309035 S 1 0 1 "" NA18507 nsv471786 5 114784042 114785803 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646067 M 2.564 95 "" esv1933109 5 114784201 114786000 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502883 S 1 0 1 "" NA18507 nsv513257 5 114784336 114785805 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626763 S 1 0 1 "" 1 esv5292 5 114784374 114785892 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27733 S 1 0 1 Single Asian sample YH "" YH dgv209n6 5 114784398 114785805 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv330072,nsv327607 M 24 "" nsv442960 5 114784536 114787066 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv830455 5 114789441 114966183 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444982 S 95 1 0 FEM1C,TICAM2,TMED7-TICAM2 esv2518853 5 114826768 114827268 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234067 S 1 1 0 "" NA18507 esv1673097 5 114826901 114826901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668710 S 2 1 0 "" HuRef esv2629527 5 114874447 114875560 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389352 S 1 1 0 "" NA18507 esv272596 5 114874999 114875521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580959,essv2579327,essv2579397 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv268478 5 114875107 114875437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512499,essv2504145,essv2502962,essv2496533,essv2501193,essv2506059,essv2500950,essv2513553,essv2501287,essv2506863,essv2510942,essv2510504,essv2496894,essv2511966,essv2502229,essv2503600 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA18489,NA18505,NA18507,NA18510,NA18516,NA18523,NA18856,NA18907,NA19093,NA19102,NA19116,NA19172,NA19190,NA19238,NA19257 esv269779 5 114885909 114886022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504068 S 157 1 0 Samples from several populations that are part of the HapMap project. FEM1C NA18505 esv1007391 5 114997240 114997714 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581196 S 3 0 1 "" HuRef esv1402507 5 114997283 114997758 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130011 S 2 0 1 "" HuRef esv5929 5 114997292 114997739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28370 S 1 0 1 "" SJK esv2039234 5 115018418 115018727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697275 S 1 0 1 "" NA18507 esv1512090 5 115018478 115018551 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767901 S 2 0 1 "" HuRef esv2140021 5 115066419 115066833 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4665969 S 1 0 1 "" NA18507 nsv823184 5 115099192 115099634 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438832 S 31 0 1 "" NA18973 nsv882734 5 115140827 115158805 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516328 S 6533 0 1 "" SP56794 esv2437611 5 115157732 115159211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182279 S 1 0 1 "" NA18507 esv22249 5 115157758 115158713 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21095 S 451 1 0 "" NA12828 dgv31e194 5 115158164 115158914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2177104,esv2318507 M 1 0 1 "" NA18507 esv5333 5 115158284 115158879 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27774 S 1 0 1 Single Asian sample YH "" YH nsv329184 5 115158357 115158705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347762 M 24 "" esv996688 5 115158358 115158706 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583654 S 3 0 1 "" HuRef esv5627 5 115158366 115158703 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28068 S 1 0 1 "" SJK esv1056535 5 115158366 115158715 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329043 S 2 0 1 "" HuRef nsv515611 5 115236742 115456280 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664486,nssv680377,nssv687597,nssv702833,nssv681585,nssv700710,nssv691124,nssv679600,nssv664092,nssv679527,nssv663527 M 2026 3 8 AP3S1,AQPEP,COMMD10,LOC644100 esv2896 5 115266537 115277106 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25337 S 1 0 1 Single Asian sample YH AP3S1 YH esv8099 5 115266576 115276956 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30540 S 1 0 1 AP3S1 SJK nsv882735 5 115282622 115405049 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592920 S 6533 1 0 AQPEP IS39320 dgv6297n71 5 115282622 115580844 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882736,nsv882737 M 6533 2 0 AQPEP,COMMD10,LOC644100 IS39373,IS40557 nsv882738 5 115343027 115352814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553199 S 6533 0 1 AQPEP MS19808 esv34146 5 115343843 115757818 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 AQPEP,COMMD10,LOC644100 esv7796 5 115374876 115378825 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30237 S 1 0 0 AQPEP SJK nsv527320 5 115409996 115601442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703745 S 2026 0 1 COMMD10,LOC644100 nsv509991 5 115451958 115457958 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622098 S 4 0 1 COMMD10 NA10860 nsv4967 5 115464273 115478809 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4858 S 9 1 0 COMMD10 NA19129 esv1348644 5 115493038 115493219 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355005 S 2 0 1 COMMD10 HuRef nsv882739 5 115498914 115580844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592921 S 6533 1 0 COMMD10 IS39320 dgv6298n71 5 115510693 115580844 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882740,nsv882741 M 6533 0 2 COMMD10 MS22797,SP51242 nsv882742 5 115517669 115612058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581120 S 6533 0 1 COMMD10 IS35506 esv2552964 5 115526343 115527313 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218052 S 1 1 0 COMMD10 NA18507 nsv10744 5 115526586 115537257 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14618 S 31 0 1 Samples from several populations that are part of the HapMap project. COMMD10 NA12155 esv267982 5 115526754 115527093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516995,essv2517943,essv2519156,essv2518388 M 157 4 0 Samples from several populations that are part of the HapMap project. COMMD10 NA11931,NA12872,NA19141,NA19240 esv273003 5 115526754 115527093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581198 S 7 1 0 Samples from several populations that are part of the HapMap project. COMMD10 NA19240 esv33800 5 115529643 115529796 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95745 S 51 0 1 COMMD10 21841 nsv882743 5 115529691 115662026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597739 S 6533 0 1 COMMD10 IS41043 esv32605 5 115536176 115536257 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93194 S 51 1 0 COMMD10 22170 esv2632290 5 115541530 115543094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358616 S 1 0 1 COMMD10 NA18507 dgv1842e1 5 115543618 115571522 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1399,essv9301 M 271 0 0 COMMD10 NA18852 esv33867 5 115543885 115544053 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93969 S 51 1 0 COMMD10 21802 nsv524812 5 115545137 115612058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700805 S 2026 0 1 COMMD10 nsv10745 5 115547417 115569863 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16080,nssv15471 M 31 0 2 Samples from several populations that are part of the HapMap project. COMMD10 NA18860,NA19221 nsv527484 5 115547653 115548510 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703931 S 2026 0 1 COMMD10 nsv823185 5 115554340 115560473 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426119 S 31 0 1 COMMD10 NA18968 esv2752058 5 115560964 115633097 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984242,essv6989420 M 771 0 1 COMMD10 BEC_817 nsv519321 5 115569462 115612058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655411,nssv692037,nssv661305,nssv688176 M 2026 0 4 COMMD10 nsv462401 5 115569462 115637451 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538571 S 1557 0 1 COMMD10 NINDS_23 nsv521050 5 115569462 115645196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697754 S 2026 0 1 COMMD10 dgv6299n71 5 115589027 115644187 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882744,nsv882745 M 6533 5 0 COMMD10 IS30775,IS34659,IS35053,IS37546,IS38617 nsv882746 5 115593925 115732465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557320 S 6533 0 1 COMMD10 MS22608 dgv6300n71 5 115594535 115697849 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882748,nsv882747 M 6533 0 2 COMMD10 IS39963,MS20020 esv34428 5 115603412 115654865 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987863,essv6989203 M 771 0 1 COMMD10 NA19137 dgv1843e1 5 115606709 115661373 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12917,essv8391,esv1394 M 271 0 0 COMMD10 NA19093,NA19094 nsv328049 5 115619365 115619425 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346627 M 24 COMMD10 esv2422101 5 115622043 115653127 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5081458,essv5158950,essv5131605,essv5052819,essv5080161,essv5068183,essv5107571,essv5026722,essv5077080,essv5086908,essv5103477,essv5136687,essv5026678,essv5126920,essv5054120,essv5160518,essv5114262,essv5112869,essv5082877,essv5159243,essv5067677,essv5007539 M 1184 0 22 COMMD10 NA18520,NA18933,NA18935,NA19083,NA19093,NA19094,NA19118,NA19137,NA19189,NA19191,NA19192,NA19194,NA19210,NA19472,NA19761,NA19763,NA19771,NA20288,NA21099,NA21297,NA21307,NA21309 nsv462402 5 115624019 115637451 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538572 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COMMD10 HGDP00935 nsv517704 5 115624019 115645196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678851,nssv652904,nssv698205,nssv680754,nssv677926,nssv658894,nssv683654,nssv672990,nssv664740,nssv682067,nssv692559,nssv689588,nssv665460,nssv659205,nssv658508,nssv686187,nssv682002 M 2026 0 17 COMMD10 nsv818377 5 115624019 115645196 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418272,nssv1418273,nssv1418274,nssv1418456,nssv1418457,nssv1416934 M 112 0 6 COMMD10 NA19092,NA19093,NA19094,NA19137,NA19192,NA19194 dgv1844e1 5 115624176 115654865 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9289,essv15167,essv11400,essv10975 M 271 0 0 COMMD10 NA19092,NA19137,NA19192,NA19210 esv34342 5 115624176 115654865 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978397,essv6987383 M 771 0 1 COMMD10 NA19092 essv8988 5 115624176 115661373 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. COMMD10 NA19194 nsv442961 5 115624233 115653127 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 COMMD10 nsv514321 5 115624360 115649112 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627767 S 1414 0 1 COMMD10 nsv10746 5 115637817 115644918 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15501,nssv13555 M 31 0 2 Samples from several populations that are part of the HapMap project. COMMD10 NA18860,NA18980 nsv4968 5 115663670 115742755 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10470,nssv8137 M 9 0 2 "" NA12156,NA18956 nsv523400 5 115752265 115753690 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699151 S 2026 1 0 "" nsv522616 5 115753690 115772414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706012 S 2026 0 1 "" nsv4969 5 115781818 115795752 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8138 S 9 0 1 "" NA12156 nsv518494 5 115892477 115897159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695934 S 2026 0 1 SEMA6A esv2549113 5 115921313 115922660 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185911 S 1 0 1 SEMA6A NA18507 esv2061795 5 115921857 115922556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588864 S 1 0 1 SEMA6A NA18507 esv3227 5 115921896 115922558 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25668 S 1 0 1 Single Asian sample YH SEMA6A YH dgv210n6 5 115922036 115922368 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv330086,nsv328233 M 24 SEMA6A esv5985 5 115922042 115922366 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28426 S 1 0 1 SEMA6A SJK nsv830456 5 115996965 116198617 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444983 S 95 1 0 "" nsv527974 5 116015067 116331577 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704489 S 2026 1 0 "" nsv328841 5 116154387 116155917 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347419 M 24 "" nsv329267 5 116213646 116216241 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347845 M 24 "" esv2164588 5 116249825 116250224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982704 S 1 0 1 "" NA18507 nsv327154 5 116249973 116250031 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345732 M 24 "" esv27522 5 116249997 116252101 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18039 S 451 0 1 "" NA19108 nsv882749 5 116267482 116296978 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513940 S 6533 0 1 "" SP55878 nsv882750 5 116280691 116319990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507397 S 6533 0 1 "" SP54581 esv2331947 5 116282065 116282534 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788389 S 1 0 1 "" NA18507 esv3443 5 116282177 116282498 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25884 S 1 0 1 Single Asian sample YH "" YH esv2042344 5 116363806 116364251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627373 S 1 0 1 "" NA18507 nsv4970 5 116373388 116418482 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8139 S 9 0 1 "" NA12156 nsv882751 5 116377489 116481853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566530 S 6533 0 1 "" IS30771 esv1507366 5 116388450 116388450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247884 S 2 1 0 "" HuRef nsv4971 5 116416004 116441544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3382 S 9 1 0 "" NA12878 esv2545919 5 116455341 116457070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296647 S 1 0 1 "" NA18507 esv2336992 5 116455900 116456600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842945 S 1 0 1 "" NA18507 esv5105 5 116456015 116456469 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27546 S 1 0 1 Single Asian sample YH "" YH esv5722 5 116456077 116456405 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28163 S 1 0 1 "" SJK esv1001524 5 116456081 116456398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571624 S 3 0 1 "" HuRef esv1014898 5 116456094 116456412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662177 S 2 0 1 "" HuRef dgv6301n71 5 116533026 116581402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882753,nsv882752,nsv882754 M 6533 0 3 "" IS35622,MS21294,MS22322 esv8465 5 116596583 116596647 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30906 S 1 1 0 "" SJK nsv882755 5 116675624 116776776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564130 S 6533 0 1 "" IS30171 esv27210 5 116710294 116721213 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16026 S 451 1 0 "" NA19108 dgv963n67 5 116713861 116714428 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823189,nsv823186 M 31 4 0 "" NA18526,NA18570,NA18951,NA18968 nsv823188 5 116713861 116716000 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424972 S 31 1 0 "" AK2 esv7238 5 116722419 116722730 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29679 S 1 0 1 "" SJK nsv830457 5 116752676 116902959 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444984 S 95 1 0 "" esv268812 5 116772508 116772852 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518448 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv271189 5 116790958 116791076 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510969,essv2496630,essv2507973,essv2499428,essv2495861,essv2502575,essv2504985,essv2511864,essv2506124,essv2498311,essv2512683,essv2508663,essv2505278,essv2498634,essv2503721,essv2501800,essv2498053,essv2511499,essv2513074 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA11831,NA11894,NA12003,NA12044,NA12489,NA12750,NA12828,NA18499,NA18523,NA18526,NA18577,NA18592,NA18853,NA18858,NA18960,NA19239,NA19240 esv272709 5 116790966 116791297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584470,essv2583341 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv882756 5 116811559 116932951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541151 S 6533 0 1 "" MS15199 nsv329045 5 116814420 116814420 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347623 M 24 "" esv1511266 5 116814456 116814456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848913 S 2 1 0 "" HuRef nsv882757 5 116837909 117070658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517265 S 6533 0 1 "" SP57238 nsv526109 5 116852349 116853251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702357 S 2026 0 1 "" nsv830458 5 116859646 117030940 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444987,nssv1444986 M 95 0 2 "" nsv328110 5 116863978 116864283 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346688 M 24 "" dgv6302n71 5 116871042 116932951 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882759,nsv882758 M 6533 0 2 "" IS39011,SP50137 nsv823190 5 116875442 116884330 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424973 S 31 0 1 "" AK2 esv273383 5 116924949 116925357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580562 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268459 5 116925005 116925367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510567,essv2493261,essv2504170,essv2496403,essv2493785,essv2494744,essv2508924,essv2506078,essv2505364,essv2500902,essv2505720,essv2494117,essv2513519,essv2506994,essv2506592,essv2499102,essv2509556,essv2498746,essv2497631,essv2496930,essv2512177 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18504,NA18505,NA18510,NA18517,NA18519,NA18522,NA18523,NA18853,NA18856,NA18861,NA18871,NA18907,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19238 esv25514 5 117002506 117003100 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9757 S 451 0 1 "" NA19114 esv268228 5 117029749 117029865 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510619,essv2493795,essv2494636,essv2498441,essv2498861 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18517,NA18519,NA18858,NA19138 nsv519949 5 117033589 117083044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659757,nssv659600 M 2026 0 2 "" esv272841 5 117039147 117039488 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584246,essv2583356 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv882760 5 117115757 117320167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565571 S 6533 0 1 "" IS30473 esv268226 5 117161140 117161377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511424,essv2502871,essv2508787,essv2497115,essv2500053,essv2508242,essv2507853,essv2500673,essv2494495,essv2508478,essv2499238,essv2501584,essv2512837,essv2511625 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12156,NA18532,NA18552,NA18558,NA18561,NA18564,NA18571,NA18572,NA18582,NA18605,NA18608,NA18609,NA18940 esv22681 5 117169576 117175711 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13052 S 451 0 1 "" NA11995 nsv882761 5 117180846 117269389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581201 S 6533 0 1 "" IS35533 nsv528758 5 117211812 117214194 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705420 S 2026 0 1 "" nsv830460 5 117310662 117475956 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1444991,nssv1445002,nssv1445001,nssv1444990,nssv1444989,nssv1444992,nssv1444994,nssv1444998,nssv1444995,nssv1444993,nssv1444997,nssv1445000,nssv1444988,nssv1444999 M 95 14 0 "" esv2501150 5 117312134 117313657 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170389 S 1 0 1 "" NA18507 nsv462404 5 117327620 117359443 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538573 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00759 nsv507285 5 117332413 117338413 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622951,nssv620319 M 4 2 0 "" NA15510,NA18994 esv259595 5 117336953 117337330 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394222,essv2393892,essv2393863,essv2393696,essv2393990 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239 esv259903 5 117336963 117337352 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398629,essv2400243,essv2400034,essv2396076,essv2398774,essv2394741,essv2398604,essv2399035,essv2400247,essv2396733,essv2395266,essv2396558,essv2399102,essv2401131,essv2397547,essv2400883,essv2399819,essv2395785,essv2400579,essv2397599,essv2394468,essv2398057,essv2400287,essv2396824,essv2396793,essv2399387,essv2396663,essv2398671,essv2396281,essv2400765,essv2395377,essv2396692,essv2397963,essv2399197,essv2399751,essv2397313,essv2401053,essv2396954,essv2395246,essv2397693,essv2397845,essv2399215,essv2396508,essv2397450,essv2396629,essv2395714,essv2396062,essv2400692,essv2394946,essv2395094,essv2398406,essv2400350,essv2399892,essv2398519,essv2395518,essv2400838,essv2397441,essv2399583,essv2397204,essv2400605,essv2397879,essv2396872,essv2398811,essv2400428,essv2398983,essv2400184,essv2399149,essv2396854,essv2398440,essv2400677,essv2399982,essv2394899,essv2394423,essv2396203,essv2395879,essv2398182,essv2397144,essv2400796,essv2395133,essv2397752,essv2394531,essv2400383,essv2395835,essv2399644,essv2396992,essv2397388,essv2398734,essv2398300,essv2394805,essv2395675,essv2396337,essv2395997,essv2397044 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12776,NA12828,NA12878,NA12891,NA12892,NA18499,NA18502,NA18505,NA18508,NA18517,NA18520,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18605,NA18608,NA18609,NA18638,NA18871,NA18912,NA18940,NA18942,NA18943,NA18944,NA18945,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18973,NA18980,NA19005,NA19093,NA19114,NA19116,NA19138,NA19238,NA19239 esv1252128 5 117337229 117337229 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072804 S 2 1 0 "" HuRef nsv4972 5 117393468 117438314 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9674,nssv8140,nssv3383 M 9 0 3 "" NA12156,NA12878,NA18507 esv2437157 5 117408812 117410350 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272157 S 1 0 1 "" NA18507 nsv328859 5 117409638 117409988 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347437 M 24 "" esv2441596 5 117413478 117421650 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248348 S 1 0 1 "" NA18507 nsv471787 5 117414031 117422032 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646068 M 0.602 95 "" nsv517540 5 117414333 117428678 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672427,nssv654547,nssv666181,nssv693110,nssv665237,nssv658509,nssv682141,nssv651695,nssv672903,nssv652696,nssv663327,nssv676698,nssv671110,nssv682068,nssv684371,nssv686027,nssv665023,nssv665502,nssv658390,nssv681611,nssv656061,nssv659161,nssv671687,nssv673574,nssv664928,nssv654106,nssv652583,nssv684325,nssv658895,nssv686727,nssv662662,nssv657145,nssv686506,nssv652985,nssv655761,nssv688801,nssv689984,nssv676122,nssv658773,nssv677679,nssv673517,nssv677988,nssv682868,nssv660905,nssv674511,nssv659541,nssv656660,nssv679055,nssv689769,nssv693388,nssv674704,nssv657563,nssv680173,nssv672087,nssv691659,nssv666702,nssv674546,nssv655220,nssv664237,nssv657426,nssv668439,nssv689722,nssv661256,nssv672794,nssv686584,nssv666904,nssv678057,nssv673421,nssv656078,nssv682912,nssv673059,nssv692266,nssv688053,nssv658436,nssv653582,nssv655338,nssv669123,nssv676492,nssv685018,nssv676475,nssv684243,nssv671450,nssv684409,nssv663253,nssv680268,nssv654060,nssv680755,nssv669662,nssv678518,nssv680940,nssv658266,nssv679847,nssv688976,nssv667269,nssv677601,nssv676595,nssv655645,nssv691780,nssv682746,nssv669482,nssv674838,nssv655976,nssv689343,nssv666799,nssv670516,nssv684201,nssv657171,nssv682406,nssv665619,nssv685105,nssv655044,nssv674178,nssv691811,nssv691854,nssv685275,nssv687057,nssv665842,nssv678887,nssv659857,nssv685968,nssv670125,nssv653062,nssv672407,nssv663861,nssv686039,nssv684217,nssv680602,nssv692385,nssv692616,nssv659945,nssv652207,nssv669839,nssv684767,nssv655288,nssv655890,nssv686819,nssv681959,nssv657401,nssv684683,nssv652728,nssv683387,nssv677539,nssv691823,nssv661353,nssv671064,nssv667630,nssv665735,nssv673909,nssv677740,nssv660722,nssv657057,nssv681143,nssv665810,nssv659671,nssv684957,nssv685053,nssv669629,nssv666635,nssv686315,nssv675235,nssv679649,nssv673318,nssv652123,nssv655793,nssv660021,nssv680981,nssv673410,nssv679304,nssv677821,nssv692131,nssv691070,nssv667922,nssv690351,nssv688846,nssv653041,nssv669716,nssv690198,nssv663197,nssv654733,nssv654577,nssv673623,nssv670633,nssv684109,nssv691489,nssv691517,nssv661425,nssv681855,nssv683763,nssv682523,nssv653688,nssv690634,nssv676898,nssv677459,nssv688752,nssv688530,nssv664385,nssv670764,nssv670455,nssv656103,nssv693552,nssv682386,nssv680297,nssv655433,nssv685494,nssv671945,nssv670618,nssv680862,nssv653489,nssv678972,nssv662989,nssv679833,nssv675095,nssv688938,nssv674726,nssv678130,nssv690801,nssv666482,nssv677071,nssv681654,nssv669538,nssv685566,nssv675391,nssv668910,nssv692717,nssv652242,nssv666736,nssv675737,nssv655917,nssv669311,nssv654246,nssv681264,nssv678463,nssv669020,nssv651753,nssv686455,nssv689248,nssv675949,nssv671834,nssv683865,nssv658830,nssv668835,nssv688558,nssv672144,nssv655531,nssv654075,nssv684443,nssv661180,nssv678649,nssv671352,nssv652783,nssv687181,nssv687782,nssv652258,nssv684838,nssv668084,nssv665367,nssv667803,nssv696958,nssv675379,nssv692432,nssv664068,nssv654649,nssv653961,nssv658308,nssv670051,nssv659617,nssv660845,nssv672394,nssv695961,nssv671272,nssv674318,nssv659826,nssv666035,nssv690662,nssv682456,nssv680620,nssv664126,nssv660292,nssv688640,nssv654040,nssv666441,nssv685985,nssv661126,nssv653512,nssv679906,nssv667776,nssv672686,nssv673856,nssv687454,nssv651832,nssv669440,nssv666501,nssv704253,nssv692759,nssv676942,nssv653734,nssv655566,nssv665069,nssv672382,nssv657445,nssv683404,nssv651749,nssv667071,nssv684537,nssv673733,nssv693580,nssv671027,nssv672476,nssv653909,nssv685446,nssv667581,nssv682890,nssv676798,nssv690614,nssv685825,nssv677327,nssv683198,nssv684787,nssv689684,nssv662634,nssv670422,nssv652905,nssv693216,nssv664045,nssv653005,nssv662366,nssv676523,nssv675512,nssv685424,nssv693043,nssv674419,nssv686370,nssv654331,nssv688584,nssv678714,nssv675748,nssv666159,nssv692285,nssv689468,nssv662435,nssv659092,nssv676222,nssv680325,nssv674032,nssv684231,nssv680722,nssv658524,nssv656290,nssv689613,nssv686267,nssv690556,nssv670593,nssv684481,nssv670143,nssv672219,nssv677000,nssv681512 M 2026 6 351 "" esv2511358 5 117414666 117422751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383912 S 1 0 1 "" NA18507 esv2395478 5 117414819 117421961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994005 S 1 0 1 "" NA18507 esv29715 5 117415057 117423898 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11027 S 451 0 6 "" NA12776,NA12878,NA18511,NA18858,NA18907,NA19190 nsv514322 5 117415192 117421424 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627768 S 1414 0 1 "" esv2421731 5 117416321 117421055 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024074,essv5052403,essv5055999,essv5072232,essv5049011,essv5025074,essv5126132,essv5124158,essv5082330,essv5021214,essv5097599,essv5114805,essv5034149,essv5057842,essv5098685,essv5151239,essv5109073,essv5017968,essv5027779,essv5090737,essv5097719,essv5137978,essv5084481,essv5019034,essv5147982,essv5053174,essv5070534,essv5058719,essv5018491,essv5144660,essv5084834,essv5077206,essv5147865,essv5008691,essv5096943,essv5120110,essv5008401,essv5007850,essv5155902,essv5127302,essv5041054,essv5079428,essv5041224,essv5117086,essv5115327,essv5061126,essv5132749,essv5012298,essv5106619,essv5044358,essv5048959,essv5082951,essv5047874,essv5136112,essv5116671,essv5105404,essv5035463,essv5154299,essv5135197,essv5024481,essv5150570,essv5006477,essv5041275,essv5082789,essv5090680,essv5003035,essv5048143,essv5122141,essv5002490,essv5070510,essv5161130,essv5067494,essv5156903,essv5019492,essv5139090,essv5064753,essv5105890,essv5060001,essv5111037,essv5145123,essv5015833,essv5009829,essv5061206,essv5050418,essv5034895,essv5018037,essv5139756,essv5100640,essv5015631,essv5132421,essv5112838,essv5073442,essv5088141,essv5150436,essv5122585,essv5059757,essv5035225,essv5144708,essv5115552,essv5159297,essv5159553,essv5123309,essv5035418,essv5083251,essv5115725,essv5144003,essv5038281,essv5004248,essv5138553,essv5109714,essv5159013,essv5031108,essv5133090,essv5081440,essv5072630,essv5109260,essv5029785,essv5066051,essv5060907,essv5079422,essv5148110,essv5140039,essv5009135,essv5076642,essv5036878,essv5020076,essv5080425,essv5009824,essv5144678,essv5064909,essv5113920,essv5125507,essv5050637,essv5134037,essv5011702,essv5136553,essv5002332,essv5140164,essv5054532,essv5093080,essv5105010,essv5102814,essv5060037,essv5016425,essv5021235,essv5011721,essv5035136,essv5091350,essv5094719,essv5095022,essv5056725,essv5090641,essv5147772,essv5101067,essv5098176,essv5148806,essv5109876,essv5060217,essv5084619,essv5016932,essv5134771,essv5088418,essv5011749,essv5118471,essv5084827,essv5085230,essv5153643,essv5075207,essv5132466,essv5067960,essv5133791,essv5041688,essv5042195,essv5109783,essv5128165,essv5120339,essv5130352,essv5031532,essv5141670,essv5062719,essv5065536,essv5104201,essv5023242,essv5117289,essv5096458,essv5129258,essv5033584,essv5099702,essv5097722,essv5051121,essv5109708,essv5047280,essv5019607,essv5077585,essv5120183,essv5083611,essv5131688,essv5146554,essv5094897,essv5153853,essv5130349,essv5145843,essv5158892,essv5046802,essv5032822,essv5034201,essv5116584,essv5047100,essv5107415,essv5078652,essv5046724,essv5139015,essv5103800,essv5020656,essv5073530,essv5081315,essv5063564,essv5104028,essv5138162,essv5089082,essv5029540,essv5099821,essv5136783,essv5102673,essv5005809,essv5129610,essv5155722,essv5149407,essv5074731,essv5087046,essv5144800 M 1184 0 231 "" NA06984,NA07055,NA07346,NA07349,NA10854,NA10855,NA11831,NA11839,NA11930,NA12056,NA12249,NA12386,NA12399,NA12739,NA12748,NA12776,NA12830,NA12874,NA12878,NA12892,NA18117,NA18485,NA18487,NA18507,NA18509,NA18510,NA18511,NA18516,NA18518,NA18519,NA18853,NA18854,NA18858,NA18860,NA18862,NA18870,NA18909,NA18910,NA18911,NA18912,NA18933,NA18935,NA19028,NA19031,NA19035,NA19038,NA19096,NA19097,NA19107,NA19109,NA19113,NA19115,NA19119,NA19122,NA19123,NA19131,NA19132,NA19141,NA19142,NA19144,NA19159,NA19161,NA19171,NA19172,NA19176,NA19181,NA19182,NA19183,NA19185,NA19186,NA19190,NA19191,NA19197,NA19204,NA19207,NA19208,NA19209,NA19211,NA19214,NA19215,NA19221,NA19223,NA19235,NA19236,NA19237,NA19314,NA19316,NA19319,NA19332,NA19371,NA19373,NA19375,NA19385,NA19390,NA19391,NA19393,NA19394,NA19399,NA19428,NA19430,NA19431,NA19434,NA19435,NA19440,NA19445,NA19466,NA19474,NA19658,NA19663,NA19665,NA19700,NA19702,NA19703,NA19704,NA19705,NA19716,NA19783,NA19834,NA19836,NA19916,NA19982,NA19983,NA20129,NA20287,NA20288,NA20294,NA20301,NA20302,NA20322,NA20332,NA20334,NA20335,NA20344,NA20350,NA20505,NA20517,NA20519,NA20531,NA20535,NA20589,NA20753,NA20759,NA20766,NA20770,NA20774,NA20786,NA20800,NA20801,NA20810,NA20815,NA20816,NA20845,NA20852,NA20872,NA20873,NA20876,NA20879,NA20882,NA20892,NA20897,NA20900,NA20901,NA20911,NA21091,NA21102,NA21106,NA21111,NA21112,NA21115,NA21116,NA21295,NA21300,NA21303,NA21308,NA21309,NA21313,NA21339,NA21355,NA21357,NA21362,NA21364,NA21367,NA21370,NA21379,NA21385,NA21388,NA21389,NA21390,NA21415,NA21417,NA21420,NA21434,NA21436,NA21441,NA21451,NA21453,NA21473,NA21475,NA21485,NA21487,NA21489,NA21490,NA21509,NA21513,NA21517,NA21520,NA21524,NA21525,NA21526,NA21529,NA21576,NA21577,NA21582,NA21583,NA21600,NA21611,NA21613,NA21614,NA21617,NA21631,NA21650,NA21683,NA21686,NA21693,NA21716,NA21717,NA21740,NA21741,NA21768,NA21776,NA21784 dgv721n27 5 117418263 117421055 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462409,nsv462407,nsv462419,nsv462410,nsv462415,nsv462411,nsv462414,nsv462420,nsv462405,nsv462412,nsv462416,nsv462413,nsv462408,nsv462418 M 1557 0 14 "" 1798860210_A,HGDP00027,HGDP00328,HGDP00574,HGDP00577,HGDP00727,HGDP00914,HGDP01279,HGDP01282,HGDP01384,NINDS_130,NINDS_171,NINDS_186,NINDS_45 nsv818379 5 117418263 117421055 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416545,nssv1415706,nssv1416544,nssv1416158,nssv1415695,nssv1417866,nssv1415648,nssv1416640,nssv1415759,nssv1417867,nssv1418151,nssv1416738,nssv1416639,nssv1416740,nssv1416157,nssv1416240 M 112 1 15 "" NA12056,NA12249,NA12874,NA12878,NA12892,NA18853,NA18854,NA19116,NA19119,NA19141,NA19142,NA19144,NA19159,NA19161,NA19171,NA19172 nsv818380 5 117418263 117428678 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416443 S 112 0 1 "" NA18516 nsv462421 5 117420110 117421055 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538590 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00796 nsv528177 5 117462739 117524321 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704727 S 2026 1 0 "" esv2422395 5 117470705 117915809 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161440 S 181 0 1 "" ND01277 esv2142541 5 117476864 117477260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545624 S 1 0 1 "" NA18507 nsv327381 5 117476999 117477073 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345959 M 24 "" nsv525570 5 117527263 117527379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701709 S 2026 0 1 "" nsv882762 5 117527379 117734685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579517 S 6533 0 1 "" IS35127 esv33434 5 117553979 117554233 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99604 S 51 1 0 "" 22217 dgv1845e1 5 117692624 117970146 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv820,essv20576 M 271 0 0 "" NA07056 esv25620 5 117697886 117700766 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14933 S 451 1 0 "" NA18502 nsv882763 5 117739869 117782240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501173 S 6533 0 1 "" SP51086 nsv526165 5 117758026 117791077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702425 S 2026 0 1 "" nsv462422 5 117768444 118048605 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538591 S 1557 0 1 "" NINDS_2 nsv507286 5 117772938 117778938 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621813,nssv617687 M 4 2 0 "" CHM,NA10860 nsv519256 5 117776599 117791077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694320 S 2026 0 1 "" esv1035587 5 117802282 117802334 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999809 S 2 0 1 "" HuRef essv24198 5 117813488 117892105 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07056 nsv528521 5 117821408 117827706 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705131 S 2026 0 1 "" nsv525303 5 117838660 117867843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701409 S 2026 0 1 "" nsv436470 5 117867555 117874316 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466238 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv722n27 5 117871768 117995371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462424,nsv462425 M 1557 0 2 "" HGDP01191,HGDP01197 esv270734 5 117876103 117876459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511849,essv2493279,essv2506242,essv2498396,essv2505963,essv2513287,essv2501464,essv2504857,essv2497637,essv2499647 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18504,NA18523,NA18858,NA18861,NA18907,NA19093,NA19099,NA19147,NA19225 esv988961 5 117896121 117896432 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566660 S 3 0 1 "" HuRef esv29696 5 117896136 117906168 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20537,esv15210 M 451 0 11 "" NA07045,NA11993,NA12004,NA12156,NA12287,NA12749,NA18508,NA19114,NA19129,NA19225,NA19240 esv2489820 5 117901065 117909211 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330705 S 1 0 1 "" NA18507 esv1523237 5 117902456 117902456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696265 S 2 1 0 "" HuRef esv1675145 5 117902931 117902995 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227201 S 2 0 1 "" HuRef esv2379992 5 117904574 117904964 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644197 S 1 0 1 "" NA18507 esv990325 5 117905590 117906063 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586069 S 3 0 1 "" HuRef esv29006 5 117906168 117908082 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20920 S 451 1 0 "" NA19114 esv28628 5 117908128 117908903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11187 S 451 0 2 "" NA12749,NA19114 dgv6303n71 5 117912665 118060144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882766,nsv882765,nsv882764 M 6533 0 4 "" IS34698,IS38525,IS39660,MS14805 nsv328772 5 117925947 117925998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347350 M 24 "" nsv882767 5 117959629 118413590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574361 S 6533 0 1 DTWD2,MIR1244-1,MIR1244-2,MIR1244-3 IS33547 esv269072 5 117979627 117979915 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510779,essv2504529,essv2507909,essv2511085,essv2505407 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18563,NA18564,NA18944,NA18952 dgv6304n71 5 118116284 118161685 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882770,nsv882768 M 6533 0 3 "" IS34804,IS39457,MS15686 nsv882769 5 118116284 118182267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590414,nssv1582547 M 6533 0 2 "" IS35993,IS38507 esv273884 5 118125046 118125313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584608,essv2583778 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267839 5 118125046 118125380 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540061,essv2520789,essv2552657,essv2532076,essv2569485,essv2578571,essv2538938,essv2561507,essv2556160,essv2527880,essv2562216,essv2529764,essv2575388,essv2538832,essv2560775,essv2530308,essv2568814,essv2549968,essv2546013,essv2574510 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18502,NA18505,NA18508,NA18510,NA18519,NA18523,NA18871,NA18907,NA18909,NA19093,NA19099,NA19108,NA19116,NA19141,NA19147,NA19225,NA19239,NA19240 dgv6305n71 5 118198034 118269753 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882772,nsv882773,nsv882771 M 6533 0 3 DTWD2 IS31558,IS40368,IS41113 esv2557297 5 118229979 118231326 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309032 S 1 0 1 DTWD2 NA18507 nsv526318 5 118238734 118249488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702604 S 2026 0 1 DTWD2 nsv823191 5 118278675 118282217 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423404 S 31 0 1 DTWD2 NA18999 nsv882774 5 118353328 118581369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546281 S 6533 1 0 DMXL1 MS17121 nsv507287 5 118405205 118411205 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617688 S 4 1 0 "" CHM nsv511113 5 118465753 118494364 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618648 S 4 0 0 DMXL1 CHM nsv4973 5 118468045 118507627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2539,nssv3384,nssv9884,nssv8141,nssv10471,nssv490,nssv4859,nssv11109 M 9 8 0 DMXL1 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509083 5 118471353 118494364 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623454,nssv619420,nssv620831 M 4 3 0 DMXL1 NA10860,NA15510,NA18994 nsv275 5 118479467 118502561 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv275 S 1 1 0 DMXL1 NA15510 dgv1846e1 5 118583762 118695647 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5777,esv1063 M 271 0 0 DMXL1,TNFAIP8 NA18540 nsv882775 5 118696993 118719787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587760 S 6533 1 0 TNFAIP8 IS38110 esv24760 5 118719951 118730745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16366 S 451 0 1 TNFAIP8 NA06985 nsv4974 5 118778158 118823275 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8142 S 9 0 1 HSD17B4 NA12156 esv5819 5 118789817 118789871 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28260 S 1 1 0 "" SJK esv2334240 5 118801502 118801907 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938924 S 1 0 1 "" NA18507 esv2486573 5 118865214 118866726 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328184 S 1 0 1 HSD17B4 NA18507 nsv882776 5 118887445 118943307 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564390 S 6533 1 0 HSD17B4 IS30204 nsv882777 5 118898351 119009379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555496 S 6533 0 1 FAM170A,HSD17B4 MS21397 nsv823192 5 118953208 118960007 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440350 S 31 0 1 "" NA18564 nsv882778 5 119000012 119411938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590424 S 6533 1 0 "" IS38508 esv2430265 5 119005250 119006233 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262130 S 1 1 0 "" NA18507 esv271546 5 119005505 119005830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558138,essv2576005,essv2540696,essv2521296,essv2526207,essv2542266,essv2522839,essv2570834,essv2523441,essv2570549,essv2576899,essv2550813,essv2525360,essv2550425,essv2535158,essv2552219,essv2520424,essv2547432,essv2577854,essv2565208,essv2576485,essv2520079,essv2564220,essv2554948,essv2530609,essv2561956,essv2537459,essv2528401,essv2557319,essv2551670,essv2569579,essv2578675,essv2550012,essv2536865,essv2539136,essv2527118,essv2542949,essv2534595,essv2559868,essv2532917,essv2567921,essv2535714,essv2542153,essv2569190,essv2543647,essv2527938,essv2562187,essv2534099,essv2578141,essv2533548,essv2530098,essv2527469,essv2531316,essv2543292,essv2525684,essv2529461,essv2575702,essv2575264,essv2538771,essv2560735,essv2524269,essv2574914,essv2572879,essv2560218,essv2549688,essv2571126,essv2546070,essv2574197,essv2551207,essv2538108,essv2548995,essv2533044,essv2554515,essv2547763,essv2524866,essv2563149 M 157 76 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11894,NA11918,NA11919,NA11931,NA11993,NA12004,NA12044,NA12154,NA12155,NA12156,NA12234,NA12249,NA12489,NA12716,NA12717,NA12761,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18499,NA18504,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18550,NA18561,NA18570,NA18576,NA18577,NA18608,NA18856,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18944,NA18949,NA18952,NA18961,NA18965,NA18980,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19138,NA19143,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274123 5 119005505 119005830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581837,essv2582385,essv2584024,essv2584547,essv2583517 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 nsv830461 5 119023361 119181190 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445003,nssv1445004 M 95 1 1 "" dgv352n21 5 119036314 119045199 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528304,nsv521588 M 2026 0 2 "" nsv520525 5 119039424 119045199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686507,nssv672088 M 2026 0 2 "" esv2525406 5 119042192 119043770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182227 S 1 0 1 "" NA18507 esv2035398 5 119042855 119043567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902380 S 1 0 1 "" NA18507 esv3323 5 119042966 119043427 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25764 S 1 0 1 Single Asian sample YH "" YH esv1002252 5 119043048 119043367 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568339 S 3 0 1 "" HuRef esv1513925 5 119043056 119043376 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610137 S 2 0 1 "" HuRef nsv328209 5 119043057 119043376 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346787 M 24 "" esv9528 5 119043057 119043401 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31969 S 1 0 1 "" SJK nsv4975 5 119055910 119089805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2705 S 9 1 0 "" NA18555 esv267607 5 119058404 119058743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576006,essv2542247,essv2534987,essv2547609,essv2530729,essv2562001,essv2568048,essv2572455,essv2567067,essv2548657,essv2563127 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10847,NA11830,NA11919,NA12249,NA12717,NA12873,NA12874,NA18577,NA18609,NA18947 nsv882779 5 119059458 119210441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585068 S 6533 0 1 "" IS37247 esv2343513 5 119065825 119069746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951433 S 1 0 1 "" NA18507 esv2595028 5 119065882 119070531 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380236 S 1 0 1 "" NA18507 esv269365 5 119076586 119077016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494644,essv2505341,essv2513393,essv2504655 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18853,NA18907,NA19099 nsv328932 5 119106093 119106093 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347510 M 24 "" nsv830462 5 119152888 119290788 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445006,nssv1445005 M 95 0 2 "" nsv526990 5 119356477 119360569 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703363 S 2026 0 1 "" nsv882780 5 119360569 119516823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541504 S 6533 0 1 "" MS15341 nsv882781 5 119397233 119585727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579831 S 6533 0 1 "" IS35181 nsv823193 5 119405734 119406235 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438833 S 31 0 1 "" NA18973 esv25986 5 119405803 119410759 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16073,esv18252 M 451 0 32 "" NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv820208 5 119406885 119415553 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419878 S 2 0 1 "" AK1 nsv823194 5 119407670 119410156 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434429 S 31 0 1 "" NA18570 nsv513258 5 119407681 119410593 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626764 S 1 0 1 "" 1 esv2192828 5 119407886 119410765 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801700 S 1 0 1 "" NA18507 esv4184 5 119407998 119410629 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26625 S 1 0 1 Single Asian sample YH "" YH esv6951 5 119408045 119410582 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29392 S 1 0 1 "" SJK esv2612831 5 119408405 119414359 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330993 S 1 0 1 "" NA18507 nsv823195 5 119408519 119410156 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426152,nssv1421710,nssv1422603,nssv1432872,nssv1435089,nssv1440352,nssv1438149,nssv1439672,nssv1429808,nssv1424216,nssv1432055,nssv1430581,nssv1427497,nssv1441063,nssv1435864,nssv1438834,nssv1428280,nssv1424976,nssv1439963,nssv1429048,nssv1426665,nssv1432675,nssv1433653,nssv1437445,nssv1423405,nssv1425766,nssv1431316,nssv1426497 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv823196 5 119408519 119414589 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436625 S 31 0 1 "" NA18542 esv1621112 5 119411860 119411860 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734419 S 2 1 0 "" HuRef esv1335722 5 119411910 119411910 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881370 S 2 1 0 "" HuRef esv1710784 5 119412324 119412376 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904958 S 2 0 1 "" HuRef esv1604100 5 119412385 119412437 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995016 S 2 0 1 "" HuRef esv1343226 5 119412637 119412637 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689097 S 2 1 0 "" HuRef esv8550 5 119421701 119421768 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30991 S 1 1 0 "" SJK nsv521547 5 119462092 119465484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698162 S 2026 0 1 "" esv2378732 5 119463409 119463824 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547950 S 1 0 1 "" NA18507 esv275265 5 119498240 119500724 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586046,essv2585878 M 1250 1 1 "" esv272534 5 119513484 119513752 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580541 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270895 5 119513491 119513576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519015,essv2515231,essv2518866,essv2518312 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19238,NA19239,NA19240 nsv882782 5 119554231 119654986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526785 S 6533 0 1 "" SP57817 dgv6306n71 5 119560895 119634887 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882784,nsv882783 M 6533 3 0 "" MS10098,MS12180,MS25814 nsv882785 5 119585727 119634887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551932 S 6533 1 0 "" MS19017 nsv882786 5 119643009 119742716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552709 S 6533 0 1 "" MS19587 nsv527509 5 119725615 119751968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703962 S 2026 0 1 "" nsv830463 5 119834542 119996724 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445008,nssv1445009 M 95 0 2 PRR16 nsv462427 5 119866822 119956573 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538594 S 1557 0 1 PRR16 1782681114_A nsv882787 5 119902205 119953591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560492 S 6533 0 1 PRR16 MS24503 nsv517556 5 119952431 119953591 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682869,nssv667731,nssv673518,nssv675569,nssv685342,nssv678539,nssv652351 M 2026 0 7 PRR16 dgv83n68 5 119977989 120179752 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv830464,nsv830465 M 95 4 0 PRR16 nsv527308 5 119994484 120019023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703728 S 2026 0 1 PRR16 esv1973400 5 119997175 119997554 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601799 S 1 0 1 PRR16 NA18507 esv1407368 5 119997340 119997410 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951345 S 2 0 1 PRR16 HuRef dgv6307n71 5 120075046 120190256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882788,nsv882790 M 6533 0 2 "" IS31044,IS36656 nsv521074 5 120083640 120094719 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692070,nssv681289 M 2026 2 0 "" nsv818381 5 120083640 120094719 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416241 S 112 1 0 "" NA12057 nsv882789 5 120084157 120218112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554042 S 6533 1 0 "" MS20550 nsv830466 5 120114327 120286915 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445014,nssv1445022,nssv1445017,nssv1445015,nssv1445016,nssv1445020,nssv1445021,nssv1445019 M 95 8 0 "" nsv330017 5 120117835 120117835 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348595 M 24 "" esv271553 5 120121875 120122213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516555,essv2517937 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12872 nsv882791 5 120128124 120321227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591701 S 6533 0 1 "" IS39011 nsv524748 5 120132747 120247239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700739 S 2026 0 1 "" esv268242 5 120171891 120172238 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507995,essv2493372 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA12776 dgv6308n71 5 120211045 120324686 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882793,nsv882792 M 6533 0 2 "" IS33832,SP53474 nsv428125 5 120222767 120486365 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450495 S 62 1 0 "" NA19096 dgv6309n71 5 120247239 120569387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882795,nsv882794 M 6533 0 2 "" IS34141,IS38465 nsv508377 5 120279128 120333160 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618777 S 4 0 1 "" NA10860 nsv526730 5 120298404 120328975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703071 S 2026 0 1 "" nsv527585 5 120298404 120570314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704046 S 2026 0 1 "" esv2422297 5 120302094 120358372 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161286 S 181 0 1 "" ND04275 nsv517000 5 120324686 120480755 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661915,nssv678795,nssv651915,nssv671179,nssv683497,nssv663010,nssv663586,nssv653928,nssv651954,nssv654264,nssv663404,nssv674259,nssv672936,nssv666290,nssv674808,nssv657084,nssv693702,nssv661306,nssv665024,nssv667828,nssv653583,nssv655870 M 2026 12 10 "" esv28745 5 120326148 120444651 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12055 S 451 1 0 "" NA19225 esv8204 5 120340933 120341239 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30645 S 1 0 1 "" SJK nsv328260 5 120340933 120341247 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346838 M 24 "" esv270523 5 120345292 120345605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512522,essv2496725,essv2510517,essv2494195,essv2504141,essv2494659,essv2507171,essv2504740,essv2509586,essv2498650,essv2512140,essv2501834,essv2498253 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18501,NA18502,NA18505,NA18519,NA18870,NA19099,NA19129,NA19138,NA19238,NA19239,NA19240 esv273518 5 120345303 120345636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583941,essv2584803,essv2583471 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv2111478 5 120358176 120358802 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864236 S 1 0 1 "" NA18507 nsv328081 5 120358347 120358614 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346659 M 24 "" nsv882796 5 120362701 120422853 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529471 S 6533 1 0 "" SP81553 nsv830467 5 120372561 120535767 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445023 S 95 0 1 "" nsv882797 5 120387218 120785161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590964,nssv1598878 M 6533 0 2 "" IS38611,IS41013 esv33642 5 120408424 120876659 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95229 S 51 1 0 "" 21721 nsv462429 5 120416885 120480755 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538596 S 1557 0 1 "" 1780854061_A esv1431087 5 120419256 120419256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600839 S 2 1 0 "" HuRef nsv830468 5 120492596 120676966 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445024,nssv1445025 M 95 0 2 "" nsv516363 5 120539019 120579608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692433,nssv655289,nssv667777 M 2026 0 3 "" nsv882798 5 120543017 120617181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523100 S 6533 0 1 "" SP53643 nsv462430 5 120556453 120617672 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538597 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00568 nsv471043 5 120556453 120617672 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545167 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00568 nsv882799 5 120593422 120677140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503690 S 6533 0 1 "" SP52094 nsv518883 5 120619324 120736647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696342 S 2026 0 1 "" esv1750956 5 120623486 120624368 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880170 S 2 0 1 "" HuRef dgv6310n71 5 120650099 120684557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882801,nsv882800 M 6533 0 2 "" SP52093,SP54587 nsv882802 5 120650099 120698191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517968 S 6533 0 1 "" SP57418 esv24584 5 120677503 120680072 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14092 S 451 0 5 "" NA18502,NA18508,NA18858,NA18861,NA19108 nsv4976 5 120686051 120718084 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2540 S 9 1 0 "" NA18555 nsv519599 5 120714197 120731816 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694949,nssv657008,nssv693839,nssv661545,nssv672953 M 2026 0 5 "" dgv6311n71 5 120750312 120901846 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882803,nsv882807 M 6533 0 2 "" IS31335,MS22104 esv2550190 5 120750690 120752160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285073 S 1 0 1 "" NA18507 nsv471789 5 120755307 120755475 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646070 M 2.483 95 "" dgv6312n71 5 120760038 120846031 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882804,nsv882805 M 6533 0 2 "" IS30432,MS12827 nsv882806 5 120769799 120945148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591702 S 6533 0 1 "" IS39011 nsv520719 5 120793117 120804274 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697573 S 2026 1 0 "" nsv882808 5 120804666 120846031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584566 S 6533 0 1 "" IS37065 nsv882809 5 120939209 120980355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570616 S 6533 0 1 "" IS32289 nsv471044 5 120945148 121083944 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545168 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01365 nsv462431 5 120945148 121093738 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538598 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01365 esv274941 5 120960066 120964427 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585891 S 1250 0 1 "" nsv462433 5 120964132 121060274 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538599 S 1557 1 0 "" 1780846321_A dgv353n21 5 120974940 121060274 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524246,nsv526906 M 2026 2 0 "" nsv882810 5 120980355 121055619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552190 S 6533 0 1 "" MS19277 nsv882811 5 120980355 121090838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578352 S 6533 0 1 "" IS34762 esv2752059 5 121016637 121128745 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984692,essv6984693,essv6984694,essv6987651 M 771 1 0 "" SPC_166 nsv882812 5 121020200 121158036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581710 S 6533 0 1 "" IS35701 nsv521061 5 121034917 121060274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691269,nssv685074,nssv681010 M 2026 0 3 "" nsv830469 5 121061464 121226480 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445026 S 95 1 0 FTMT nsv513259 5 121086767 121088031 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626766 S 1 0 1 "" 1 esv2513913 5 121086820 121089014 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302325 S 1 0 1 "" NA18507 esv2138544 5 121086978 121088024 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571607 S 1 0 1 "" NA18507 esv4599 5 121087096 121088000 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27040 S 1 0 1 Single Asian sample YH "" YH nsv462434 5 121119845 121158036 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538600 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00580 esv2213616 5 121122745 121123197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580818 S 1 0 1 "" NA18507 nsv509992 5 121159628 121165628 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621269 S 4 0 1 "" NA15510 nsv435815 5 121159786 121165022 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466240 S 2 0 1 "" NA15510 nsv823197 5 121160446 121163902 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431317 S 31 0 1 "" AK18 esv24166 5 121160450 121163833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18109 S 451 0 2 "" NA07045,NA15510 nsv882813 5 121239824 121325014 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552838,nssv1551322,nssv1527562,nssv1537293,nssv1536527,nssv1594486,nssv1581981,nssv1572927,nssv1534125,nssv1591703,nssv1582950,nssv1532667,nssv1545817 M 6533 1 12 "" IS33196,IS35771,IS36219,IS39011,IS39900,MS10802,MS11467,MS12827,MS13154,MS16959,MS18847,MS19634,SP58537 nsv882814 5 121239824 121379525 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598789 S 6533 0 1 SRFBP1 IS41224 dgv723n27 5 121282047 121289560 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462436,nsv462435 M 1557 0 2 "" HGDP00232,HGDP00649 nsv516419 5 121282047 121289560 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681228,nssv658437,nssv693840,nssv686429,nssv668254,nssv654890 M 2026 0 6 "" esv2060583 5 121287805 121288236 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628271 S 1 0 1 "" NA18507 esv3514 5 121287925 121288280 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25955 S 1 0 1 Single Asian sample YH "" YH esv1000310 5 121287940 121288015 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581463 S 3 0 1 "" HuRef esv1406802 5 121287947 121288023 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245116 S 2 0 1 "" HuRef nsv433233 5 121358537 121386088 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463114 S 9 0 1 SRFBP1 NA15510 nsv525806 5 121448325 121449763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701990 S 2026 0 1 "" esv259549 5 121450446 121450767 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394180,essv2393790 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv259963 5 121450452 121450789 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400035,essv2394765,essv2400300,essv2398463,essv2399159,essv2399733,essv2397285,essv2396922,essv2397668,essv2399838,essv2399800,essv2397232 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11881,NA11894,NA12776,NA12828,NA12878,NA12892,NA18502,NA18573,NA19129,NA19225 nsv823199 5 121454701 121455387 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435865 S 31 0 1 "" NA18566 nsv823200 5 121454915 121455387 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428281,nssv1437446 M 31 0 2 "" AK10,NA18949 nsv471790 5 121470277 121470747 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646071 M 0.230 95 "" esv272075 5 121499895 121500022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511790,essv2494191,essv2509281 M 157 3 0 Samples from several populations that are part of the HapMap project. ZNF474 NA18499,NA18502,NA18909 esv273350 5 121540010 121545045 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581506 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100505841 NA12878 nsv4978 5 121600957 121634618 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv491 S 9 0 1 "" NA19240 esv993299 5 121602964 121608950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563782 S 3 0 1 "" HuRef esv2446628 5 121603547 121609719 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166619 S 1 0 1 "" NA18507 esv1928788 5 121603813 121608912 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828577 S 1 0 1 "" NA18507 nsv499160 5 121604014 121608724 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585964 S 9 0 1 "" nsv823201 5 121855090 121856902 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425767 S 31 0 1 "" AK4 esv4401 5 121862145 121862370 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26842 S 1 0 1 Single Asian sample YH "" YH nsv882815 5 121902733 121967217 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541385 S 6533 0 1 "" MS15303 nsv513260 5 121952107 121955419 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626767 S 1 0 1 "" 1 esv275256 5 122072653 122077378 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585865,essv2586146 M 1250 1 1 "" nsv823202 5 122087169 122087855 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427498 S 31 1 0 "" AK8 nsv830471 5 122160018 122351898 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445028,nssv1445027 M 95 2 0 SNX2,SNX24 esv2569438 5 122301427 122303140 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258527 S 1 0 1 SNX24 NA18507 esv2095337 5 122302050 122302772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4534554 S 1 0 1 SNX24 NA18507 esv4604 5 122302194 122302701 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27045 S 1 0 1 Single Asian sample YH SNX24 YH dgv213n6 5 122302240 122302576 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327994,nsv329842 M 24 SNX24 esv1008444 5 122302244 122302566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576803 S 3 0 1 SNX24 HuRef esv1686062 5 122302252 122302575 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639649 S 2 0 1 SNX24 HuRef esv5852 5 122302255 122302562 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28293 S 1 0 1 SNX24 SJK nsv520349 5 122387539 122483920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697362 S 2026 0 1 PPIC,PRDM6 nsv4979 5 122473573 122508046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv492 S 9 1 0 PRDM6 NA19240 esv275203 5 122579242 122582070 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585723,essv2585303 M 1250 1 1 "" nsv330041 5 122587049 122587049 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348619 M 24 "" nsv328482 5 122587050 122587050 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347060 M 24 "" nsv830472 5 122604462 122780319 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445034,nssv1445033,nssv1445031,nssv1445032,nssv1445030,nssv1445037,nssv1445043,nssv1445036,nssv1445035,nssv1445038,nssv1445039,nssv1445042,nssv1445041 M 95 13 0 CEP120 nsv507288 5 122609385 122615385 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621814 S 4 1 0 "" NA10860 esv271144 5 122610674 122611010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518838,essv2514838,essv2514309,essv2517640,essv2516177,essv2516841 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12234,NA12874,NA12878,NA12891,NA12892 esv274664 5 122610680 122611004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582217,essv2582571,essv2583045 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv34878 5 122611000 122658252 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979613,essv6986906 M 771 1 0 "" NA18579 dgv1847e1 5 122626041 122685098 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5640,esv1383 M 271 0 0 "" NA18579 nsv10747 5 122648933 122652793 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14799,nssv14136,nssv15567,nssv14648,nssv15531,nssv15313,nssv13466,nssv14193,nssv13687,nssv13532,nssv14611,nssv13704,nssv12641,nssv12910 M 31 10 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18860,NA18975,NA19007,NA19132,NA19240 nsv4980 5 122735445 122769697 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8143 S 9 1 0 CEP120 NA12156 esv2183522 5 122751407 122751849 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001092 S 1 0 1 CEP120 NA18507 nsv327517 5 122751607 122751662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346095 M 24 CEP120 esv22104 5 122836414 122849847 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14777 S 451 0 1 "" NA18858 nsv527734 5 122936260 122949002 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704218 S 2026 0 1 CSNK1G3 nsv882816 5 122949002 123037184 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571023 S 6533 1 0 CSNK1G3 IS32517 nsv882817 5 122971148 123617758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586553 S 6533 1 0 CSNK1G3 IS37860 nsv507289 5 122979821 122985821 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622952,nssv620320,nssv617689,nssv621815 M 4 4 0 CSNK1G3 CHM,NA10860,NA15510,NA18994 esv1153329 5 122986237 122986289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273324 S 2 0 1 "" HuRef esv2632585 5 122990386 122991859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233090 S 1 0 1 "" NA18507 esv268000 5 123004011 123004365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510099,essv2511413,essv2495296,essv2504423,essv2510350,essv2503445,essv2508358,essv2493355,essv2496769,essv2509846,essv2496562,essv2509059,essv2500362,essv2497302,essv2494530,essv2504500,essv2506349,essv2500100,essv2494001,essv2507364,essv2497011,essv2502005 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11920,NA11992,NA11993,NA12414,NA12716,NA12749,NA12776,NA18498,NA18508,NA18510,NA18522,NA18537,NA18545,NA18550,NA18563,NA18566,NA18573,NA18871,NA18912,NA19190,NA19257 nsv277 5 123020657 123044567 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv277 S 1 1 0 "" NA15510 nsv4981 5 123020657 123044567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11110 S 9 1 0 "" NA15510 nsv471045 5 123119927 123159778 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545169 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00691 nsv462437 5 123142086 123159778 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538603 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00691 esv29754 5 123162714 123168513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13916 S 451 0 1 "" NA12006 nsv523040 5 123164276 123168046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698723 S 2026 0 1 "" esv274952 5 123174097 123174749 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585986 S 1250 0 1 "" nsv523232 5 123187997 123220844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698955 S 2026 0 1 "" esv272242 5 123222100 123222428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581912,essv2582333,essv2582790 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv270018 5 123222100 123222441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521104,essv2522715,essv2537704,essv2528514,essv2546788,essv2562727,essv2539186,essv2553016,essv2538299,essv2540565,essv2565187,essv2539912,essv2522161,essv2566317,essv2532485,essv2553143,essv2569163,essv2556359,essv2534091,essv2575534,essv2545126,essv2549010,essv2547928 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA11894,NA11931,NA12878,NA12891,NA12892,NA18507,NA18519,NA18542,NA18547,NA18552,NA18558,NA18563,NA18571,NA18572,NA18576,NA18605,NA18861,NA18871,NA18916,NA19099,NA19172 nsv428126 5 123385534 123550237 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450496,nssv450497 M 62 1 1 "" HGDP00449,HGDP01093 nsv4982 5 123429181 123460172 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10472 S 9 1 0 "" NA18956 nsv823203 5 123479410 123481686 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438150,nssv1432873,nssv1424977,nssv1429049 M 31 4 0 "" AK12,AK2,NA18951,NA18972 nsv327924 5 123488962 123490997 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346502 M 24 "" nsv520132 5 123569140 123574003 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684372,nssv672190,nssv685356,nssv661079,nssv685307,nssv661500 M 2026 0 6 "" esv22918 5 123572996 123573756 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13115 S 451 0 2 "" NA12006,NA18502 dgv354n21 5 123631573 123633739 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519250,nsv528234 M 2026 0 2 "" esv274902 5 123715301 123721318 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585445 S 1250 0 1 "" nsv520370 5 123745586 123747347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697377 S 2026 0 1 "" nsv882818 5 123771935 124024947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586554 S 6533 1 0 ZNF608 IS37860 dgv6313n71 5 123873011 123924254 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882821,nsv882819,nsv882820 M 6533 7 0 "" MS10228,MS10515,MS11487,MS14353,MS16206,MS16708,MS20741 nsv462440 5 123897759 123947830 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538605 S 1557 0 1 "" 1782681195_A nsv520775 5 123898170 123902748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688894,nssv675284 M 2026 0 2 "" esv267888 5 123910177 123910561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493165,essv2513320,essv2495519,essv2498667 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18907,NA18916,NA19138 esv997771 5 123914068 123917980 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563754 S 3 1 0 "" HuRef esv267894 5 123914686 123914771 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515015,essv2514387,essv2513847 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA12874,NA19143 esv1035467 5 123914725 123914725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681856 S 2 1 0 "" HuRef nsv327412 5 123924841 123930381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345990 M 24 "" esv268821 5 123946451 123946536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516316 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv519664 5 123989156 123999877 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687793,nssv657460 M 2026 2 0 "" nsv830473 5 124034320 124239937 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445044 S 95 1 0 ZNF608 esv274116 5 124089314 124089636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583973,essv2583470 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNF608 NA19238,NA19240 nsv328005 5 124132981 124133032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346583 M 24 "" esv2505691 5 124175052 124175993 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301484 S 1 1 0 "" NA18507 esv267456 5 124175689 124175965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536388,essv2545631,essv2523211,essv2531929,essv2544464,essv2565362,essv2576500,essv2561844,essv2557463,essv2556894,essv2552602,essv2551839,essv2532256,essv2562614,essv2569847,essv2527235,essv2544979,essv2552862,essv2538356,essv2542772,essv2524726,essv2564917,essv2534567,essv2561101,essv2549332,essv2519637,essv2566053,essv2531064,essv2532817,essv2567491,essv2541718,essv2570296,essv2553443,essv2535597,essv2572560,essv2559220,essv2566960,essv2541963,essv2543616,essv2556227,essv2539510,essv2534029,essv2555653,essv2566425,essv2527680,essv2555968,essv2522397,essv2543093,essv2575375,essv2538639,essv2524249,essv2574665,essv2560233,essv2571480,essv2546139,essv2574307,essv2551557,essv2563300 M 157 58 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11920,NA12003,NA12004,NA12006,NA12414,NA12812,NA12814,NA12874,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18520,NA18522,NA18526,NA18542,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18572,NA18573,NA18576,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18870,NA18871,NA18912,NA18916,NA18945,NA18948,NA18952,NA18956,NA18960,NA18965,NA19099,NA19108,NA19129,NA19138,NA19190,NA19238,NA19239,NA19240,NA19257 esv273930 5 124175692 124175953 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583950,essv2584406,essv2583303 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269616 5 124183193 124188233 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511459,essv2510378,essv2496589,essv2510683,essv2493822,essv2508264,essv2494514,essv2495517,essv2497949,essv2512377,essv2505600,essv2504791,essv2497017,essv2512020,essv2498219,essv2502258,essv2513040 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11920,NA12414,NA18486,NA18501,NA18517,NA18561,NA18572,NA18916,NA18945,NA18949,NA19005,NA19099,NA19190,NA19238,NA19240,NA19257 esv272850 5 124183199 124188259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580685 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv823204 5 124195804 124204958 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441064 S 31 0 1 "" NA18969 esv1707065 5 124262271 124262479 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093318 S 2 0 1 "" HuRef nsv507290 5 124276901 124282901 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621816,nssv617690 M 4 2 0 "" CHM,NA10860 nsv882822 5 124277917 124477274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552928 S 6533 0 1 "" MS19649 nsv830474 5 124291527 124459198 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445045 S 95 0 1 "" esv2541376 5 124391126 124392712 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255813 S 1 0 1 "" NA18507 esv2268153 5 124391544 124392270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634588 S 1 0 1 "" NA18507 esv7824 5 124391734 124392063 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30265 S 1 0 1 "" SJK nsv328281 5 124391749 124392074 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346859 M 24 "" nsv4983 5 124404266 124436575 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6018 S 9 1 0 "" NA12156 nsv4984 5 124404927 124429399 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8144 S 9 0 1 "" NA12156 nsv830475 5 124415191 124578155 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445046 S 95 1 0 "" nsv507291 5 124456958 124462958 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621817 S 4 1 0 "" NA10860 nsv823205 5 124505235 124505882 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436626 S 31 0 1 "" NA18542 esv2137795 5 124512082 124512519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747270 S 1 0 1 "" NA18507 esv987579 5 124512267 124512318 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568252 S 3 0 1 "" HuRef esv1664242 5 124512290 124512342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197630 S 2 0 1 "" HuRef nsv328016 5 124512291 124512342 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346594 M 24 "" esv26451 5 124573972 124574484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13979 S 451 0 1 "" NA11894 esv273510 5 124577575 124577775 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580743,essv2579164,essv2579572 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv882823 5 124597370 124667367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556428 S 6533 0 1 "" MS22008 esv275282 5 124647089 124650195 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585272 S 1250 0 1 "" nsv823206 5 124654907 124656041 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434431 S 31 0 1 "" NA18570 esv2450261 5 124744525 124746093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370957 S 1 0 1 "" NA18507 esv1003250 5 124744968 124746018 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565046 S 3 0 1 "" HuRef esv2039368 5 124745054 124745764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676705 S 1 0 1 "" NA18507 esv1288468 5 124745257 124745579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084425 S 2 0 1 "" HuRef nsv511114 5 124767618 124810178 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624298 S 4 0 0 "" NA18994 nsv4985 5 124786930 124811387 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9675,nssv493 M 9 2 0 "" NA18507,NA19240 nsv478720 5 124794281 124794383 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558107 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18507 nsv882824 5 124817399 124902957 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568942 S 6533 0 1 "" IS31373 dgv6314n71 5 124864427 124904934 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882825,nsv882826 M 6533 0 2 "" MS15704,MS17114 esv269723 5 124864827 124865258 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516117 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv823207 5 124891145 124891603 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422604 S 31 1 0 "" NA18552 dgv6315n71 5 124895722 124986104 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882827,nsv882828 M 6533 2 0 "" MS21465,MS24749 nsv4986 5 124927652 124972815 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8145 S 9 0 1 "" NA12156 esv2503790 5 124977089 124980277 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195872 S 1 0 1 "" NA18507 esv26335 5 124978184 124980629 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18880 S 451 1 0 "" NA07045 esv1680969 5 124979023 124979023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225139 S 2 1 0 "" HuRef esv270110 5 124991366 124991501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496358,essv2506258,essv2493529 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18523,NA19137 nsv515845 5 124992431 124997655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675950,nssv664994,nssv692560 M 2026 0 3 "" esv2624439 5 125014095 125015650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321366 S 1 0 1 "" NA18507 esv1489193 5 125067944 125067944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834716 S 2 1 0 "" HuRef esv7199 5 125072443 125072529 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29640 S 1 1 0 "" SJK nsv521940 5 125077069 125120399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694112 S 2026 0 1 "" dgv1848e1 5 125078762 125315808 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv499,essv2831 M 271 0 0 "" NA18953 nsv882829 5 125120399 125151926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585079 S 6533 0 1 "" IS37248 nsv521316 5 125139262 125162262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697922 S 2026 0 1 "" nsv520520 5 125172152 125190345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697466 S 2026 0 1 "" nsv818382 5 125187158 125201023 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417441 S 112 0 1 "" NA18953 nsv830476 5 125231602 125413536 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445047 S 95 1 0 "" nsv518268 5 125293018 125307428 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695699 S 2026 0 1 "" nsv10748 5 125335472 125556223 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14056 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 esv2238452 5 125363221 125363642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519811 S 1 0 1 "" NA18507 nsv528582 5 125368515 125381981 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705203 S 2026 0 1 "" nsv527994 5 125410348 125483891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704519 S 2026 0 1 "" nsv515933 5 125433128 125439856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665368,nssv668599 M 2026 0 2 "" esv7880 5 125508818 125508907 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30321 S 1 1 0 "" SJK esv8378 5 125524615 125526626 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30819 S 1 0 1 "" SJK esv1007497 5 125525381 125529085 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565201 S 3 1 0 "" HuRef esv1630620 5 125527212 125527212 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3744819 S 2 1 0 "" HuRef esv1090928 5 125528274 125528274 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656540 S 2 1 0 "" HuRef nsv516892 5 125545005 125546015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680071,nssv654734 M 2026 0 2 "" nsv882830 5 125579341 125649378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585347 S 6533 0 1 "" IS37428 nsv830477 5 125623155 125824583 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445048 S 95 1 0 GRAMD3 nsv882831 5 125661491 125765866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501071 S 6533 1 0 GRAMD3 SP51109 dgv6316n71 5 125679192 125732110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882833,nsv882832 M 6533 0 2 GRAMD3 IS36612,IS40280 nsv882834 5 125706253 125893742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585298 S 6533 0 1 GRAMD3 IS37415 esv274394 5 125758595 125758860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581952,essv2582702 M 7 2 0 Samples from several populations that are part of the HapMap project. GRAMD3 NA12878,NA12891 nsv882835 5 125782577 125819039 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501655 S 6533 1 0 GRAMD3 SP51109 nsv4987 5 125828360 125832397 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2706 S 9 1 0 GRAMD3 NA18555 nsv4989 5 125842236 125886927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2541 S 9 0 1 GRAMD3 NA18555 esv3458 5 125868985 125869336 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25899 S 1 0 1 Single Asian sample YH "" YH nsv329471 5 125869017 125869226 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348049 M 24 "" esv2169376 5 125885130 125885548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887621 S 1 0 1 "" NA18507 esv5237 5 125889028 125889348 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27678 S 1 0 1 Single Asian sample YH "" YH nsv462442 5 125949667 126117089 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538606 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH7A1,C5orf48,PHAX HGDP01194 nsv523919 5 126039032 126057234 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699762 S 2026 0 1 "" nsv509084 5 126062083 126156851 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620832 S 4 1 0 LMNB1 NA15510 esv995725 5 126093035 126096218 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563653 S 3 1 0 "" HuRef nsv823208 5 126120844 126122639 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429052 S 31 0 1 "" AK12 esv21575 5 126154020 126155362 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19718 S 451 0 1 LMNB1 NA19190 esv1346080 5 126166647 126166990 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142241 S 2 0 1 LMNB1 HuRef esv2477910 5 126185587 126187180 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174670 S 1 0 1 LMNB1 NA18507 esv22529 5 126223367 126229681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19186 S 451 0 1 "" NA19190 esv268429 5 126329995 126330373 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496878,essv2494760,essv2498434,essv2507242,essv2494013,essv2507314,essv2510838,essv2510389,essv2496922 M 157 9 0 Samples from several populations that are part of the HapMap project. MARCH3 NA18498,NA18519,NA18858,NA18870,NA18871,NA18912,NA19116,NA19172,NA19190 nsv823210 5 126397876 126398447 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439673 S 31 0 1 "" NA18537 esv4906 5 126486218 126486809 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27347 S 1 0 1 Single Asian sample YH "" YH esv8131 5 126486271 126486711 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30572 S 1 0 1 "" SJK dgv214n6 5 126486277 126486715 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327162,nsv327198 M 24 "" esv1330357 5 126486277 126486715 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148688 S 2 0 1 "" HuRef nsv521086 5 126547250 126553249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694416 S 2026 0 1 "" esv5442 5 126577812 126578605 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27883 S 1 0 0 "" SJK esv1303810 5 126610526 126610526 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915628 S 2 1 0 "" HuRef esv2333394 5 126610758 126611214 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654602 S 1 0 1 "" NA18507 esv1285477 5 126610980 126611058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681341 S 2 0 1 "" HuRef nsv830478 5 126749267 126965307 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445049 S 95 0 1 MEGF10,PRRC1 nsv526333 5 126760326 126774176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702623 S 2026 0 1 MEGF10 nsv830479 5 126877153 127081020 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445050 S 95 1 0 CTXN3,PRRC1 nsv4990 5 126927418 126948241 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8146 S 9 0 1 "" NA12156 nsv519906 5 126971192 126983817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697117 S 2026 0 1 "" nsv329985 5 126978374 126978459 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348563 M 24 "" nsv830480 5 126992650 127152421 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445052 S 95 0 1 CTXN3 nsv4991 5 127161803 127195655 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2707 S 9 1 0 "" NA18555 nsv4992 5 127179598 127224248 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4860 S 9 0 1 "" NA19129 esv2560890 5 127199614 127201672 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190720 S 1 0 1 "" NA18507 esv999320 5 127199789 127201423 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564178 S 3 0 1 "" HuRef nsv513261 5 127199942 127201628 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626768 S 1 0 1 "" 1 esv1917699 5 127200079 127201334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964590 S 1 0 1 "" NA18507 esv3027 5 127200167 127201228 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25468 S 1 0 1 Single Asian sample YH "" YH esv8824 5 127200225 127201159 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31265 S 1 0 1 "" SJK esv1573737 5 127200231 127201181 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866122 S 2 0 1 "" HuRef esv29697 5 127200308 127201198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21321 S 451 0 1 "" NA12006 esv9661 5 127256822 127256912 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32102 S 1 1 0 "" SJK esv260044 5 127288633 127288955 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395093,essv2394715,essv2396513,essv2396114,essv2397181,essv2398817,essv2400075,essv2394450,essv2397493,essv2395450,essv2394589,essv2396991,essv2400989 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18498,NA18517,NA18523,NA18572,NA18582,NA18861,NA18943,NA18947,NA18948,NA18965,NA18973,NA19099 esv6113 5 127288666 127288737 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28554 S 1 1 0 "" SJK nsv511301 5 127355548 127364985 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625243 S 1 1 0 "" 1 esv2443500 5 127363339 127365323 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318433 S 1 0 1 "" NA18507 esv23953 5 127363687 127364753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18204 S 451 0 17 "" NA07037,NA12004,NA12006,NA12287,NA12749,NA15510,NA18502,NA18505,NA18508,NA18517,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 dgv964n67 5 127363802 127364794 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823212,nsv823213,nsv823211 M 31 0 25 "" AK10,AK12,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv8300 5 127363853 127364837 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30741 S 1 0 1 "" SJK dgv215n6 5 127363900 127364830 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv328072,nsv327910,nsv329177 M 24 "" nsv508378 5 127402803 127432929 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622532 S 4 0 1 FLJ33630 NA18994 nsv4993 5 127433113 127473521 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10473 S 9 0 1 FLJ33630,SLC12A2 NA18956 esv2614945 5 127434515 127439664 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265487 S 1 0 1 FLJ33630 NA18507 esv2456372 5 127434682 127439721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202559 S 1 0 1 FLJ33630 NA18507 nsv435819 5 127434772 127440351 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466241 S 2 0 1 FLJ33630 NA15510 nsv819376 5 127434870 127438859 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419598 S 2 0 1 FLJ33630 AK1 esv2337928 5 127435284 127439007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750630 S 1 0 1 FLJ33630 NA18507 nsv499250 5 127435338 127438820 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585965 S 9 0 1 FLJ33630 nsv328805 5 127435343 127438819 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347383 M 24 FLJ33630 esv27590 5 127435714 127438780 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17369,esv9754 M 451 0 23 FLJ33630 NA06985,NA07037,NA12004,NA12006,NA12044,NA12287,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv965n67 5 127435743 127438829 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823214,nsv823215,nsv823216 M 31 0 18 FLJ33630 AK12,AK14,AK16,AK18,AK4,AK6,AK8,NA18526,NA18552,NA18564,NA18566,NA18942,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv514323 5 127435944 127438272 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627769 S 1414 0 1 FLJ33630 esv1003716 5 127436087 127436815 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587261 S 3 1 0 FLJ33630 HuRef esv1002495 5 127437310 127438829 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587043 S 3 1 0 FLJ33630 HuRef nsv830482 5 127503297 127693276 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445053 S 95 1 0 FBN2,SLC12A2 nsv830483 5 127623469 127733023 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445054 S 95 1 0 FBN2 nsv4994 5 127820571 127853788 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8147 S 9 1 0 FBN2 NA12156 nsv328434 5 127903429 127903569 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347012 M 24 "" esv1560472 5 127903469 127903529 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787615 S 2 0 1 "" HuRef esv26444 5 127923717 127932183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9966,esv14419 M 451 0 2 "" NA12828,NA18508 nsv830484 5 127964246 128115207 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445055 S 95 1 0 "" nsv823217 5 127982285 127984993 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435868 S 31 0 1 "" NA18566 nsv882836 5 128027124 128164418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529033 S 6533 0 1 "" SP81431 nsv4995 5 128075080 128119920 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8148 S 9 0 1 "" NA12156 dgv6317n71 5 128228401 128315127 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882837,nsv882838 M 6533 0 4 "" IS35018,MS10393,MS20041,MS20286 dgv6318n71 5 128233727 128456861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882839,nsv882840 M 6533 0 2 SLC27A6 MS10203,MS25976 nsv823218 5 128271095 128273525 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425771 S 31 1 0 "" AK4 nsv823219 5 128289618 128291611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436628 S 31 0 1 "" NA18542 nsv830485 5 128326521 128508391 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445056 S 95 1 0 ISOC1,MIR4633,SLC27A6 nsv819884 5 128328958 128331153 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419398 S 2 1 0 SLC27A6 AK1 dgv6319n71 5 128329870 128432125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882841,nsv882845 M 6533 0 2 SLC27A6 IS33786,MS20957 nsv882842 5 128329870 128580605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532246 S 6533 0 1 ISOC1,MIR4633,SLC27A6 MS10737 esv274641 5 128342724 128343087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580611,essv2579609 M 7 2 0 Samples from several populations that are part of the HapMap project. SLC27A6 NA19238,NA19240 esv267726 5 128342735 128343073 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557907,essv2565699,essv2536766,essv2522811,essv2568134,essv2523257,essv2531788,essv2570657,essv2548486,essv2521871,essv2534984,essv2554037,essv2552164,essv2520492,essv2558495,essv2564395,essv2578103,essv2561766,essv2528454,essv2540138,essv2520839,essv2560986,essv2559322,essv2542206,essv2562330,essv2533846,essv2526660,essv2524155,essv2574952,essv2530405,essv2545933,essv2547943,essv2525180,essv2563164 M 157 34 0 Samples from several populations that are part of the HapMap project. SLC27A6 NA07347,NA07357,NA10847,NA10851,NA11829,NA11920,NA11931,NA11995,NA12004,NA12006,NA12044,NA12045,NA12144,NA12249,NA12287,NA12489,NA12716,NA12750,NA12751,NA12761,NA12874,NA12891,NA18489,NA18498,NA18562,NA18638,NA18856,NA18909,NA18916,NA19114,NA19129,NA19138,NA19141,NA19239 nsv329438 5 128342754 128342754 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348016 M 24 SLC27A6 nsv328601 5 128342769 128342769 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347179 M 24 SLC27A6 dgv6320n71 5 128352924 128405454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882844,nsv882843 M 6533 0 2 SLC27A6 MS22797,SP52723 esv2407327 5 128355551 128356014 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4683090 S 1 0 1 SLC27A6 NA18507 esv5198 5 128355664 128355886 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27639 S 1 0 1 Single Asian sample YH SLC27A6 YH nsv327282 5 128355691 128355776 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345860 M 24 SLC27A6 esv1008060 5 128355734 128355819 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570491 S 3 0 1 SLC27A6 HuRef esv1641373 5 128355778 128355864 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805956 S 2 0 1 SLC27A6 HuRef nsv329829 5 128355779 128355864 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348407 M 24 SLC27A6 nsv882846 5 128373702 128456861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556305 S 6533 0 1 SLC27A6 MS21905 nsv4996 5 128388330 128423179 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv494 S 9 1 0 SLC27A6 NA19240 nsv882847 5 128396404 128693618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512607 S 6533 0 1 ISOC1,MIR4633,SLC27A6 SP55565 nsv882848 5 128406124 128544528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536767 S 6533 0 1 ISOC1,MIR4633 MS12947 esv4650 5 128406452 128407008 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27091 S 1 0 1 Single Asian sample YH "" YH esv9252 5 128406595 128406907 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31693 S 1 0 1 "" SJK nsv882849 5 128474591 128529637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552839 S 6533 0 1 ISOC1 MS19634 nsv471791 5 128485610 128485749 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646072 M 0.021 95 "" nsv882850 5 128488862 128557693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554137 S 6533 1 0 "" MS20627 nsv882851 5 128537311 128720747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577098 S 6533 0 1 "" IS34358 nsv882852 5 128544528 128973540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520047 S 6533 1 0 ADAMTS19,MIR4460 SP50660 nsv4997 5 128603180 128634204 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11111 S 9 1 0 "" NA15510 dgv6321n71 5 128623393 128746046 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882853,nsv882856,nsv882854,nsv882855 M 6533 0 10 "" IS30292,IS33747,IS34440,IS37428,IS40902,IS41964,MS20359,MS20612,MS22677,MS22756 dgv1849e1 5 128623637 128862751 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23259,essv24827,esv578 M 271 0 0 ADAMTS19,MIR4460 NA07000,NA07029 esv26210 5 128655032 128660291 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9964 S 451 0 1 "" NA19108 nsv516424 5 128655693 128655744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691125,nssv668282,nssv672247,nssv671815,nssv663308 M 2026 0 5 "" dgv1850e1 5 128671528 128790773 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18870,essv21957 M 271 0 0 MIR4460 NA07000,NA07029 dgv206e55 5 128686330 128790773 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34881,esv35072 M 771 0 2 MIR4460 NA07000,NA07029 nsv10749 5 128692544 128775197 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13562 S 31 0 1 Samples from several populations that are part of the HapMap project. MIR4460 NA07029 nsv818383 5 128708913 128774826 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417023,nssv1417024 M 112 0 2 MIR4460 NA07000,NA07029 esv2752060 5 128746000 128868000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987194,essv6985256,essv6985255 M 771 1 0 ADAMTS19,MIR4460 SPC_13 nsv882857 5 128759480 128830414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574928 S 6533 0 1 ADAMTS19,MIR4460 IS33669 nsv830486 5 128762927 128955762 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445057 S 95 1 0 ADAMTS19 nsv328240 5 128771480 128771541 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346818 M 24 "" esv1005077 5 128771507 128771568 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581885 S 3 0 1 "" HuRef esv1364233 5 128771530 128771592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4055750 S 2 0 1 "" HuRef nsv4998 5 128777676 128812901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv495 S 9 1 0 "" NA19240 esv991670 5 128811871 128811982 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564256 S 3 1 0 "" HuRef nsv830487 5 128861056 129039905 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445066,nssv1445064,nssv1445068,nssv1445069,nssv1445067,nssv1445065,nssv1445061,nssv1445063,nssv1445060,nssv1445059,nssv1445058 M 95 0 11 ADAMTS19 esv25215 5 128910045 128911120 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18559 S 451 0 5 ADAMTS19 NA18505,NA18517,NA19108,NA19225,NA19257 nsv823221 5 128964911 128966106 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424980 S 31 1 0 ADAMTS19 AK2 nsv882858 5 128980933 129036031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530104,nssv1593557,nssv1600268 M 6533 0 3 ADAMTS19 IS39450,IS41866,MS10203 nsv5000 5 128982788 129015174 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3385 S 9 1 0 ADAMTS19 NA12878 nsv882859 5 128997514 129063995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592554 S 6533 0 1 ADAMTS19 IS39243 esv268497 5 129202751 129202863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496585,essv2493259,essv2509819,essv2493713,essv2501419 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18504,NA18508,NA18517,NA19093 nsv830488 5 129206611 129378332 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445070 S 95 1 0 CHSY3 nsv882860 5 129217442 129514804 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555516 S 6533 1 0 CHSY3 MS21397 dgv6322n71 5 129332465 129408541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882862,nsv882861 M 6533 0 2 CHSY3 IS38492,SP55650 nsv471046 5 129384751 129444825 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545170 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHSY3 HGDP00070 nsv462445 5 129384751 129444826 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538607 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHSY3 HGDP00070 nsv327235 5 129411450 129411728 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345813 M 24 CHSY3 nsv882863 5 129462650 129491464 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517313 S 6533 1 0 CHSY3 SP57250 nsv5001 5 129568968 129614942 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6019 S 9 0 1 "" NA12156 esv268101 5 129593169 129593509 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515439,essv2517920,essv2514250 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12872,NA12874 nsv436466 5 129641581 129647384 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466242 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv21798 5 129641846 129646114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17757 S 451 0 4 "" NA18505,NA18511,NA18523,NA19108 nsv507292 5 129645901 129651901 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617691,nssv622953 M 4 2 0 "" CHM,NA18994 esv267900 5 129650414 129650565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500105,essv2508669,essv2513466,essv2501280 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18573,NA18592,NA18907,NA19093 nsv882864 5 129736249 130158094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568130 S 6533 0 1 "" IS31205 esv1001332 5 129862224 129867034 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565740 S 3 0 1 "" HuRef dgv6323n71 5 129868826 130079545 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882865,nsv882866,nsv882867 M 6533 0 6 "" IS31094,IS31554,IS36219,IS41832,MS10737,MS14737 dgv6324n71 5 129874072 130223515 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882873,nsv882871,nsv882869,nsv882868,nsv882876 M 6533 0 6 "" IS33196,IS35717,IS35771,MS13154,MS22104,MS23290 nsv882870 5 129874072 130223515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567666 S 6533 0 1 "" IS31137 dgv6325n71 5 129919660 130168579 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882877,nsv882875,nsv882872 M 6533 0 4 "" IS31218,IS32167,IS39716,IS41113 nsv882874 5 129927884 130310883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517032 S 6533 1 0 "" SP57045 nsv882878 5 130010102 130141800 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593558 S 6533 0 1 "" IS39450 nsv882879 5 130050313 130175466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567194 S 6533 0 1 "" IS31046 nsv882880 5 130079545 130223515 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526814 S 6533 1 0 "" SP57852 dgv1851e1 5 130098933 130316104 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20390,esv18 M 271 0 0 "" NA10830 nsv471047 5 130112368 130270328 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545171 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00676 nsv462447 5 130124159 130270328 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538608 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00676 nsv462448 5 130131975 130175441 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538609 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00145 nsv526798 5 130137619 130358366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703152 S 2026 0 1 "" nsv882881 5 130141800 130300485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577878 S 6533 0 1 "" IS34599 nsv882882 5 130147022 130195558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558358 S 6533 0 1 "" MS23237 esv25208 5 130360261 130360757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11864 S 451 0 1 "" NA18502 nsv520226 5 130435726 130441880 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697292 S 2026 0 1 "" dgv1852e1 5 130466896 130619811 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3293,essv19463,essv8871,essv13160,essv8422,essv4674,essv11896,essv7562,essv25,essv3356,essv9403,essv1289,essv1737,essv853,essv22925,essv15595,essv2500,essv10493,essv16906,essv12406,essv15238,essv17082,essv22947,essv10014,essv7186,essv12202,essv10112,essv14711,essv11084,essv13588,essv15027,essv21789,essv21673,essv6366,essv363,essv20629,essv16456,essv3564,essv11041,essv4170,essv15796,essv16991,essv22293,essv23482,essv20806,essv9039,essv9945,essv17965,essv14143,essv14298,essv14879,essv20152,essv22673,essv14572,essv3484,esv176,essv17814,essv20886,essv9379,essv24380,essv14448,essv4233,essv13427,essv17334,essv15385,essv11587,essv21201,essv11416,essv8360,essv13806,essv14646,essv23959,essv8601,essv24962,essv14057,essv21079,essv15363,essv9764,essv18642,essv10842,essv17181,essv16755,essv14407,essv15623,essv23834,essv10929,essv12505,essv5495,essv18752,essv10550,essv20013,essv1012,essv6611,essv12694,essv18984,essv16096,essv13546,essv11908,essv16250,essv17245,essv11755,essv10240,essv10311 M 271 0 0 HINT1,LYRM7 NA06985,NA06991,NA07022,NA07034,NA07048,NA07056,NA07357,NA10831,NA10839,NA11830,NA11832,NA11840,NA12003,NA12005,NA12146,NA12234,NA12239,NA12248,NA12707,NA12752,NA12760,NA12801,NA12814,NA12874,NA18500,NA18502,NA18503,NA18504,NA18506,NA18507,NA18508,NA18515,NA18516,NA18522,NA18545,NA18547,NA18555,NA18603,NA18609,NA18621,NA18622,NA18632,NA18853,NA18856,NA18857,NA18858,NA18861,NA18862,NA18863,NA18871,NA18872,NA18912,NA18945,NA18965,NA18971,NA18972,NA18991,NA18992,NA18995,NA18997,NA19000,NA19003,NA19005,NA19093,NA19094,NA19099,NA19100,NA19101,NA19102,NA19127,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19143,NA19144,NA19145,NA19152,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19201,NA19202,NA19203,NA19205,NA19207,NA19208,NA19209,NA19211,NA19221,NA19238,NA19239,NA19240 nsv882883 5 130474318 130600760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594673 S 6533 1 0 HINT1,LYRM7 IS39992 nsv882884 5 130474318 130679110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574929 S 6533 0 1 CDC42SE2,HINT1,LYRM7 IS33669 nsv823222 5 130478019 130480444 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438153 S 31 0 1 "" NA18951 esv2590016 5 130517338 130519076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301279 S 1 0 1 "" NA18507 esv2328420 5 130517461 130518176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689828 S 1 0 1 "" NA18507 esv2453997 5 130517664 130517976 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200081 S 1 0 1 "" NA18507 nsv882885 5 130536163 130581277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537573 S 6533 1 0 LYRM7 MS13252 dgv6326n71 5 130536163 130609094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882887,nsv882886 M 6533 0 2 LYRM7 IS31137,IS35145 esv269992 5 130591547 130595192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517999 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv524005 5 130626217 130688294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699865 S 2026 0 1 CDC42SE2 esv2458941 5 130636445 130637954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356924 S 1 0 1 CDC42SE2 NA18507 esv2445763 5 130642159 130642877 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215736 S 1 1 0 CDC42SE2 NA18507 esv1652370 5 130646368 130646667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231258 S 2 0 1 CDC42SE2 HuRef nsv882888 5 130649432 130841276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529045 S 6533 0 1 CDC42SE2,RAPGEF6 SP81432 nsv528481 5 130688294 130694020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705084 S 2026 0 1 CDC42SE2 esv3284 5 130832024 130832250 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25725 S 1 0 1 Single Asian sample YH RAPGEF6 YH esv2586698 5 130857233 130858829 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369170 S 1 0 1 RAPGEF6 NA18507 esv269378 5 130881122 130881463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557821,essv2565857,essv2575967,essv2540903,essv2546304,essv2521236,essv2525942,essv2542593,essv2536732,essv2522976,essv2571005,essv2556792,essv2568219,essv2545304,essv2531862,essv2577637,essv2570479,essv2548632,essv2521604,essv2576712,essv2550545,essv2525220,essv2550388,essv2535397,essv2554100,essv2552149,essv2520476,essv2547203,essv2529264,essv2558622,essv2564629,essv2577719,essv2553722,essv2576433,essv2520189,essv2555062,essv2537278,essv2528516,essv2547071,essv2520990,essv2557409,essv2556920,essv2578605,essv2550147,essv2536842,essv2538975,essv2562815,essv2523771,essv2552808,essv2541301,essv2538289,essv2542846,essv2540541,essv2524615,essv2565060,essv2534847,essv2561058,essv2539703,essv2549353,essv2560132,essv2566001,essv2531139,essv2532703,essv2567653,essv2567333,essv2541650,essv2569976,essv2563742,essv2553191,essv2572298,essv2559353,essv2550996,essv2543580,essv2556270,essv2528122,essv2534026,essv2555191,essv2566381,essv2530094,essv2573880,essv2557736,essv2556010,essv2534276,essv2522604,essv2531584,essv2543300,essv2525788,essv2526753,essv2575199,essv2526519,essv2574652,essv2572803,essv2560414,essv2549756,essv2571394,essv2545927,essv2574300,essv2551341,essv2536249,essv2537733,essv2549035,essv2533205,essv2554546,essv2547950,essv2524827,essv2563134 M 157 106 0 Samples from several populations that are part of the HapMap project. RAPGEF6 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12872,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18510,NA18511,NA18517,NA18519,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18858,NA18870,NA18871,NA18907,NA18916,NA18943,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18980,NA19005,NA19102,NA19114,NA19138,NA19143,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273494 5 130881125 130881464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582193,essv2582407,essv2582779,essv2584324,essv2584730,essv2583717 M 7 6 0 Samples from several populations that are part of the HapMap project. RAPGEF6 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1452882 5 130881157 130881157 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243115 S 2 1 0 RAPGEF6 HuRef nsv509993 5 130951723 130957723 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621270 S 4 0 1 RAPGEF6 NA15510 esv1136463 5 131148601 131148671 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201031 S 2 0 1 FNIP1 HuRef esv990609 5 131148621 131148769 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577138 S 3 0 1 FNIP1 HuRef esv1591239 5 131148746 131148799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767962 S 2 0 1 FNIP1 HuRef esv2604163 5 131212236 131213651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243894 S 1 0 1 "" NA18507 nsv507293 5 131302737 131308737 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621818 S 4 1 0 "" NA10860 esv25745 5 131343593 131467125 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16685 S 451 1 0 ACSL6,CSF2,IL3 NA18511 esv272200 5 131360571 131360901 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583896,essv2583599 M 7 2 0 Samples from several populations that are part of the HapMap project. ACSL6 NA19238,NA19240 nsv882889 5 131432926 131441154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499541 S 6533 0 1 CSF2 SP50159 nsv507294 5 131536041 131542041 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621819 S 4 1 0 "" NA10860 nsv882890 5 131653068 131722259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539529 S 6533 0 1 LOC553103,SLC22A4 MS14359 dgv6327n71 5 131668482 131722259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882896,nsv882891 M 6533 0 4 LOC553103,SLC22A4 IS30127,MS19159,MS21249,MS22224 dgv6328n71 5 131674661 131751187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882897,nsv882892 M 6533 0 2 LOC553103,MIR3936,SLC22A4,SLC22A5 MS10203,MS25976 dgv6329n71 5 131680428 131703880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882894,nsv882893,nsv882895 M 6533 0 4 LOC553103,SLC22A4 IS40729,MS14485,MS21905,MS25205 nsv882898 5 131680428 131798704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579175 S 6533 0 1 C5orf56,LOC553103,MIR3936,SLC22A4,SLC22A5 IS35028 dgv6330n71 5 131687002 131703880 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882899,nsv882900 M 6533 0 4 LOC553103,SLC22A4 IS35862,MS18695,MS24749,MS25710 dgv6331n71 5 131690961 131722259 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882901,nsv882905 M 6533 0 12 LOC553103,SLC22A4 IS33738,IS34264,IS34400,IS34573,IS36990,IS38736,IS40757,IS41997,MS10737,MS17399,MS25172,SP57176 nsv882902 5 131690961 131734994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540226,nssv1572207 M 6533 0 2 LOC553103,MIR3936,SLC22A4,SLC22A5 IS32891,MS14752 nsv882903 5 131690961 131771676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541790 S 6533 0 1 LOC553103,MIR3936,SLC22A4,SLC22A5 MS15491 nsv882904 5 131695447 131703880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591255 S 6533 0 1 LOC553103,SLC22A4 IS38663 nsv471048 5 131771676 131824820 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545172 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C5orf56 HGDP01187 nsv462452 5 131771676 131832406 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538611 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C5orf56 HGDP01187 nsv5002 5 131783167 131815046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6020 S 9 1 0 C5orf56 NA12156 nsv528281 5 132014362 132045843 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704851 S 2026 1 0 IL13,IL4 dgv6332n71 5 132024568 132035915 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv882909,nsv882906,nsv882907,nsv882908 M 6533 4 0 IL13 SP52025,SP54381,SP54614,SP54650 nsv882910 5 132029380 132035915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515734 S 6533 1 0 "" SP56260 dgv6333n71 5 132037720 132045828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882911,nsv882914 M 6533 0 2 IL4 SP55257,SP55310 dgv6334n71 5 132037720 132047698 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882912,nsv882915 M 6533 0 2 IL4 SP50663,SP51307 dgv6335n71 5 132037720 132062703 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882913,nsv882916,nsv882917 M 6533 0 4 IL4,KIF3A SP50046,SP50117,SP52060,SP55699 dgv28e197 5 132039460 132039525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2592463,esv2518711 M 1 0 1 IL4 NA18507 esv2348204 5 132044087 132044472 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515633 S 1 0 1 IL4 NA18507 nsv529021 5 132046068 132113876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705732 S 2026 0 1 CCNI2,IL4,KIF3A nsv882918 5 132046068 132158923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582723 S 6533 0 1 CCNI2,IL4,KIF3A,SEPT8 IS36117 nsv521072 5 132067031 132093779 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682210,nssv689546,nssv681265 M 2026 0 3 KIF3A nsv528687 5 132113876 132142746 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705330 S 2026 1 0 CCNI2,SEPT8 esv28018 5 132123201 132127312 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10957 S 451 1 0 SEPT8 NA18511 nsv882919 5 132170176 132323177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555517 S 6533 1 0 AFF4,ANKRD43,GDF9,LEAP2,SHROOM1,UQCRQ MS21397 nsv882920 5 132172049 132197212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511355,nssv1508828,nssv1511178,nssv1510704,nssv1509826 M 6533 0 5 ANKRD43,SHROOM1 SP54725,SP54956,SP54988,SP55019,SP55021 nsv830489 5 132179436 132364335 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445071 S 95 0 1 AFF4,ANKRD43,GDF9,LEAP2,SHROOM1,UQCRQ,ZCCHC10 esv1003435 5 132188129 132195083 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564317 S 3 0 1 SHROOM1 HuRef esv2599390 5 132198027 132199084 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215265 S 1 1 0 "" NA18507 nsv5003 5 132208755 132253510 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2543 S 9 0 1 AFF4,GDF9,LEAP2,UQCRQ NA18555 nsv5004 5 132226001 132232719 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv496 S 9 1 0 GDF9,UQCRQ NA19240 nsv830490 5 132316849 132478768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445072 S 95 1 0 AFF4,HSPA4,ZCCHC10 nsv823223 5 132404620 132408287 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426521,nssv1437447 M 31 2 0 "" NA18947,NA18949 nsv462453 5 132492448 132516566 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538612 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01359 esv26142 5 132604492 132706942 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19948 S 451 1 0 FSTL4 NA18511 nsv519514 5 132607558 132608889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696894 S 2026 0 1 FSTL4 nsv327378 5 132685809 132685860 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345956 M 24 FSTL4 nsv327511 5 132685868 132685917 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346089 M 24 FSTL4 esv23506 5 132713078 132713825 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13608 S 451 0 1 FSTL4 NA18907 esv1621824 5 132738892 132738892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162381 S 2 1 0 FSTL4 HuRef nsv329127 5 132738893 132738893 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347705 M 24 FSTL4 nsv520869 5 132775664 132779965 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697330,nssv676643,nssv695557,nssv678992 M 2026 1 3 FSTL4 esv271696 5 132781829 132781914 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517088,essv2515881 M 157 2 0 Samples from several populations that are part of the HapMap project. FSTL4 NA11931,NA12873 nsv5005 5 132806977 132848932 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8150 S 9 0 1 FSTL4 NA12156 esv9191 5 132823093 132823166 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31632 S 1 1 0 FSTL4 SJK nsv507295 5 132830476 132836476 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620321 S 4 1 0 FSTL4 NA15510 nsv5006 5 132914820 132958029 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6021 S 9 0 1 FSTL4 NA12156 nsv5007 5 132929516 132963606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8151 S 9 1 0 FSTL4 NA12156 nsv511115 5 132936988 132956011 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618674 S 4 0 0 FSTL4 CHM nsv508379 5 132945295 132956011 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619962,nssv618778 M 4 0 2 FSTL4 NA10860,NA15510 esv2428690 5 132946036 132953458 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292340 S 1 0 1 FSTL4 NA18507 dgv151e180 5 132946053 132953641 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989898,esv991386 M 3 0 1 FSTL4 HuRef nsv513262 5 132946678 132953059 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626769 S 1 0 1 FSTL4 1 esv2249045 5 132946692 132953100 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4653931 S 1 0 1 FSTL4 NA18507 nsv436465 5 132946697 132953280 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466243 S 2 0 1 Samples from several populations that are part of the HapMap project. FSTL4 NA18505 esv3184 5 132946822 132952979 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25625 S 1 0 1 Single Asian sample YH FSTL4 YH nsv499700 5 132946863 132952906 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585966 S 9 0 1 FSTL4 esv8441 5 132946878 132952895 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30882 S 1 0 1 FSTL4 SJK esv269541 5 132961952 132965675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495442,essv2508009,essv2512217,essv2508548,essv2508373,essv2502549,essv2507736,essv2504159,essv2496530,essv2494905,essv2500038,essv2494460,essv2507581,essv2510080,essv2493919,essv2501456,essv2504694,essv2498961,essv2510917,essv2509638,essv2498884,essv2497700,essv2499662,essv2512124,essv2498078,essv2511527,essv2513045 M 157 27 0 Samples from several populations that are part of the HapMap project. FSTL4 NA07346,NA10847,NA11919,NA12003,NA12155,NA12717,NA12749,NA12750,NA12751,NA18505,NA18510,NA18520,NA18558,NA18572,NA18576,NA18593,NA18871,NA19093,NA19099,NA19114,NA19116,NA19129,NA19138,NA19147,NA19225,NA19238,NA19240 esv274363 5 132961963 132965642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584163,essv2583606 M 7 2 0 Samples from several populations that are part of the HapMap project. FSTL4 NA19238,NA19240 nsv521520 5 133003373 133004868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698137 S 2026 0 1 "" nsv518138 5 133019176 133028407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695558 S 2026 0 1 "" nsv5008 5 133084475 133129310 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8152 S 9 0 1 "" NA12156 nsv509085 5 133145805 133237380 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619421 S 4 1 0 "" NA10860 nsv513263 5 133162019 133164545 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626770 S 1 0 1 "" 1 dgv966n67 5 133162359 133164390 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823226,nsv823224,nsv823225 M 31 0 17 "" AK10,AK12,AK16,AK18,AK2,AK20,AK4,AK8,NA18542,NA18552,NA18566,NA18592,NA18942,NA18949,NA18951,NA18972,NA18997 nsv821508 5 133162359 133164390 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420539 S 1 0 1 "" NA10851 esv26824 5 133162369 133164390 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15743 S 451 20 0 "" NA06985,NA07045,NA11931,NA11993,NA11995,NA12287,NA12749,NA12776,NA12878,NA18502,NA18505,NA18511,NA18517,NA18523,NA18916,NA19108,NA19114,NA19190,NA19225,NA19257 nsv327977 5 133162588 133162588 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346555 M 24 "" esv1004764 5 133162590 133164400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564563 S 3 0 1 "" HuRef dgv152e180 5 133162633 133164390 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003210,esv1008804 M 3 0 1 "" HuRef nsv819018 5 133162650 133165727 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419506 S 2 1 0 "" AK1 dgv967n67 5 133162893 133164384 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823228,nsv823227,nsv823230,nsv823229 M 31 0 8 "" AK14,AK6,NA18537,NA18564,NA18582,NA18969,NA18973,NA18999 nsv507296 5 133196554 133202554 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617692,nssv620322,nssv622954 M 4 3 0 "" CHM,NA15510,NA18994 nsv818384 5 133261728 133274514 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417187 S 112 0 1 "" NA18558 esv2452205 5 133265315 133267760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263564 S 1 0 1 "" NA18507 esv25889 5 133266116 133266972 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19972 S 451 0 2 "" NA18505,NA18916 nsv5009 5 133360484 133393475 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6022 S 9 1 0 VDAC1 NA12156 esv2279500 5 133402291 133402713 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908605 S 1 0 1 "" NA18507 nsv509086 5 133412858 133459351 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619422 S 4 1 0 "" NA10860 nsv5011 5 133446751 133480567 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv497 S 9 1 0 TCF7 NA19240 esv1005833 5 133596520 133596520 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566445 S 3 1 0 "" HuRef esv1456459 5 133596521 133596521 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202123 S 2 1 0 "" HuRef esv259648 5 133610409 133610771 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394079,essv2394377 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv259755 5 133610409 133610779 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395296,essv2394714,essv2399265,essv2398543,essv2399857,essv2396857,essv2394677,essv2397922,essv2398211,essv2397113,essv2394600,essv2397386,essv2395226,essv2396382,essv2398012,essv2398117,essv2398697,essv2399666,essv2397248,essv2397094,essv2400501 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA18498,NA18508,NA18562,NA18573,NA18638,NA18870,NA18907,NA18909,NA18951,NA18965,NA18980,NA19108,NA19138,NA19147,NA19172,NA19190,NA19210,NA19225,NA19239,NA19240 dgv6336n71 5 133666055 133730181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882922,nsv882921 M 6533 0 2 CDKL3 SP50649,SP57472 esv8462 5 133752061 133752117 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30903 S 1 1 0 UBE2B SJK esv1080681 5 133790823 133790823 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956235 S 2 1 0 "" HuRef nsv509087 5 133794644 133963276 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620833,nssv619423 M 4 2 0 PHF15 NA10860,NA15510 esv1009435 5 133803025 133805703 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564561 S 3 1 0 "" HuRef nsv512859 5 133804678 133805262 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625501 S 1 1 0 "" 1 nsv521720 5 133869574 133936260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694480 S 2026 0 1 PHF15 nsv520381 5 133887508 134006828 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679505,nssv663447,nssv697961,nssv673349 M 2026 1 3 PHF15,SAR1B nsv462457 5 133900603 133933728 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538613 S 1557 0 1 PHF15 1780862448_A nsv882923 5 133915902 133958427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578983 S 6533 0 1 PHF15 IS35007 nsv830491 5 133920842 134088389 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445075 S 95 0 1 PHF15,SAR1B,SEC24A nsv5012 5 134009962 134055025 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8153 S 9 0 1 SEC24A NA12156 nsv830493 5 134031366 134289810 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445076 S 95 0 1 C5orf24,CAMLG,DDX46,PCBD2,SEC24A,TXNDC15 nsv509088 5 134090924 134090924 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618044 S 4 1 0 SEC24A CHM nsv512860 5 134146866 134147227 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625502 S 1 1 0 DDX46 1 nsv523937 5 134160168 134218124 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699783 S 2026 1 0 C5orf24,DDX46 nsv830494 5 134188786 134347887 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445077,nssv1445079,nssv1445078,nssv1445081,nssv1445080 M 95 2 3 C5orf24,CATSPER3,DDX46,MIR4461,PCBD2,TXNDC15 esv22702 5 134286035 134292614 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12879,esv20852,esv15496 M 451 4 4 MIR4461,PCBD2 NA07045,NA12156,NA12239,NA12828,NA18916,NA19190,NA19240,NA19257 esv2511005 5 134286697 134293594 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326500 S 1 1 0 MIR4461,PCBD2 NA18507 dgv968n67 5 134286772 134292614 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823234,nsv823233,nsv823232,nsv823237,nsv823235 M 31 29 0 MIR4461,PCBD2 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv823236 5 134286974 134290128 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439985 S 31 1 0 PCBD2 NA18547 nsv819528 5 134287003 134292586 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419717 S 2 0 1 MIR4461,PCBD2 AK1 nsv5013 5 134339818 134371970 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3386 S 9 1 0 CATSPER3 NA12878 nsv882924 5 134357362 134420319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556113 S 6533 0 1 CATSPER3,PITX1 MS21814 nsv519879 5 134370619 134375855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683289,nssv659286,nssv698623 M 2026 0 3 CATSPER3 nsv462458 5 134375855 134433881 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538614 S 1557 0 1 PITX1 NINDS_60 dgv969n67 5 134381650 134422761 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823241,nsv823238 M 31 2 0 PITX1 AK10,NA18973 nsv823239 5 134383124 134434699 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426197 S 31 1 0 PITX1 NA18968 nsv823240 5 134384220 134406956 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426671 S 31 1 0 PITX1 AK6 nsv830495 5 134388184 134567796 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445082 S 95 0 1 PITX1 nsv823243 5 134391015 134396977 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430588 S 31 1 0 PITX1 AK16 esv1002716 5 134412562 134417875 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564143 S 3 0 1 "" HuRef nsv5014 5 134459774 134493329 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4862 S 9 1 0 "" NA19129 esv272625 5 134533805 134533890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581356 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv830496 5 134568930 134703986 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445083 S 95 1 0 H2AFY,LOC340073 nsv329851 5 134636977 134636977 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348429 M 24 "" nsv327970 5 134637069 134637069 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346548 M 24 "" esv275412 5 134640835 134655040 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585202 S 1250 0 1 "" nsv519790 5 134642914 134659913 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681341,nssv658661 M 2026 2 0 "" nsv518218 5 134643757 134666606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695643 S 2026 0 1 "" nsv5015 5 134653292 134712890 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3387,nssv10474,nssv2708 M 9 3 0 H2AFY NA12878,NA18555,NA18956 nsv5016 5 134835106 134880199 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8154 S 9 0 1 "" NA12156 dgv6337n71 5 135099411 135172228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882926,nsv882925,nsv882927 M 6533 0 3 "" SP50102,SP55557,SP55683 esv2441772 5 135115485 135122524 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256650 S 1 0 1 "" NA18507 nsv508380 5 135125762 135208362 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618779 S 4 0 1 SLC25A48 NA10860 nsv823244 5 135126186 135171980 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432879 S 31 0 1 "" NA18972 esv2550693 5 135127341 135172375 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163360 S 1 0 1 "" NA18507 esv2522986 5 135142085 135142741 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226641 S 1 1 0 "" NA18507 nsv512861 5 135142134 135143026 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625503 S 1 1 0 "" 1 esv1654818 5 135142382 135142382 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882882 S 2 1 0 "" HuRef nsv820691 5 135143036 135149270 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420540 S 1 0 1 "" NA10851 esv29500 5 135143151 135148760 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11984,esv14980 M 451 30 0 "" NA06985,NA07037,NA11931,NA11995,NA12004,NA12006,NA12239,NA12287,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1064897 5 135167115 135167115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158957 S 2 1 0 "" HuRef dgv1853e1 5 135193500 135502898 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7179,esv572 M 271 0 0 FBXL21,IL9,LECT2,SLC25A48,SMAD5,SMAD5-AS1,TGFBI,VTRNA2-1 NA18547 dgv6338n71 5 135281697 135336658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882930,nsv882929,nsv882928 M 6533 0 4 FBXL21,LECT2 IS31082,IS31259,IS38183,IS39243 nsv471050 5 135295235 135336658 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545173 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBXL21,LECT2 HGDP00890 nsv441964 5 135329914 135362750 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1854e1 5 135329916 135380394 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7635,essv4112 M 271 0 0 "" NA18529,NA18547 nsv882931 5 135330153 135354489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504485 S 6533 0 1 "" SP52531 nsv823245 5 135336072 135362875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439996 S 31 0 1 "" NA18547 nsv818385 5 135336658 135360470 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417086,nssv1417159 M 112 0 2 "" NA18529,NA18547 esv34736 5 135339000 135360470 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989086,essv6979341,essv6988157 M 771 0 1 "" NA18529 esv25535 5 135372552 135374147 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17236 S 451 0 1 "" NA19225 nsv5017 5 135431026 135462385 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10475 S 9 1 0 VTRNA2-1 NA18956 nsv882932 5 135452251 135497399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592964 S 6533 0 1 SMAD5,SMAD5-AS1 IS39326 nsv508381 5 135517122 135592057 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622533 S 4 0 1 LOC389332,SMAD5,TRPC7 NA18994 nsv819700 5 135543764 135544983 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419202 S 2 0 1 SMAD5 AK1 esv271457 5 135589086 135589414 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496785,essv2505165,essv2501525,essv2506535 M 157 4 0 Samples from several populations that are part of the HapMap project. TRPC7 NA18498,NA18853,NA19093,NA19108 esv1214138 5 135857566 135857566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109737 S 2 1 0 "" HuRef nsv5018 5 135876923 135899459 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8155 S 9 0 1 "" NA12156 nsv517402 5 136031051 136042404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671094,nssv662775,nssv685737,nssv664857,nssv668737,nssv684282,nssv660458,nssv656044,nssv665179,nssv662154,nssv669811,nssv656368,nssv682302,nssv651916,nssv664206,nssv692760,nssv661546,nssv679477,nssv677328,nssv685780,nssv679506 M 2026 0 21 "" nsv522822 5 136031051 136047556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698471 S 2026 0 1 "" nsv507297 5 136064778 136070778 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621820 S 4 1 0 "" NA10860 esv269919 5 136087592 136087924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521043,essv2526184,essv2522807,essv2523436,essv2577603,essv2548194,essv2521753,essv2576556,essv2535134,essv2544386,essv2520434,essv2529239,essv2578076,essv2553775,essv2565499,essv2532334,essv2541283,essv2565088,essv2561219,essv2541535,essv2535847,essv2578492,essv2533561,essv2534304,essv2533325,essv2554450 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA11894,NA11918,NA11931,NA12004,NA12043,NA12045,NA12144,NA12154,NA12249,NA12414,NA12716,NA12749,NA12761,NA12763,NA12812,NA18505,NA18545,NA18558,NA18562,NA18592,NA18608,NA18940,NA18944,NA18959 nsv819160 5 136093888 136103616 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418583 S 2 1 0 "" AK1 nsv5019 5 136241910 136274011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2544 S 9 1 0 "" NA18555 nsv882933 5 136488800 136554650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598118,nssv1575446,nssv1580036 M 6533 0 3 SPOCK1 IS33747,IS35227,IS40902 nsv830497 5 136500558 136678666 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445084 S 95 0 1 SPOCK1 nsv462459 5 136510446 136554650 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538615 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPOCK1 HGDP00859 esv270705 5 136553582 136553887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519241,essv2515445,essv2516028,essv2519344 M 157 4 0 Samples from several populations that are part of the HapMap project. SPOCK1 NA07346,NA11894,NA12249,NA12873 nsv328026 5 136594487 136594487 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346604 M 24 SPOCK1 esv1973589 5 136632413 136632822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741857 S 1 0 1 SPOCK1 NA18507 nsv830498 5 136727149 136891039 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445087,nssv1445086 M 95 2 0 SPOCK1 nsv5020 5 136851940 136892357 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2545,nssv6023 M 9 0 2 SPOCK1 NA12156,NA18555 nsv515019 5 136856240 136857680 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627029 S 1414 0 0 SPOCK1 esv1001872 5 136875819 136885874 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563717 S 3 0 1 "" HuRef nsv511304 5 136877472 136886258 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625277 S 1 0 1 "" 1 esv2570228 5 136879824 136885115 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180848 S 1 0 1 "" NA18507 esv2000678 5 136880352 136880863 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775140 S 1 0 1 "" NA18507 esv2554343 5 136881692 136884737 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331192 S 1 0 1 "" NA18507 esv2373455 5 136882405 136884471 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822119 S 1 0 1 "" NA18507 esv3279 5 136882442 136884513 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25720 S 1 0 1 Single Asian sample YH "" YH esv1702626 5 136882557 136884273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610492 S 2 0 1 "" HuRef esv8415 5 136882587 136884314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30856 S 1 0 1 "" SJK esv24622 5 136882819 136884196 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13036 S 451 4 0 "" NA18916,NA19108,NA19147,NA19225 nsv821191 5 136882819 136884196 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420541 S 1 0 1 "" NA10851 nsv823246 5 136883255 136884033 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433657 S 31 1 0 "" NA18526 nsv830499 5 136888395 137048825 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445088 S 95 0 1 KLHL3,MIR874 esv1277751 5 136901651 136901700 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772894 S 2 0 1 "" HuRef nsv830500 5 137035654 137208902 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445089 S 95 0 1 HNRNPA0,KLHL3,NPY6R nsv509089 5 137042248 137074512 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620834 S 4 1 0 KLHL3 NA15510 esv272140 5 137042651 137042736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518743,essv2515048,essv2516333,essv2515941,essv2513822,essv2513744 M 157 6 0 Samples from several populations that are part of the HapMap project. KLHL3 NA07347,NA12045,NA12812,NA12814,NA12873,NA19143 esv989099 5 137042686 137042852 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564648 S 3 1 0 KLHL3 HuRef esv1505834 5 137042689 137042689 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871921 S 2 1 0 KLHL3 HuRef nsv5022 5 137046144 137052788 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6024 S 9 0 1 KLHL3 NA12156 esv2653233 5 137049676 137052290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238221 S 1 0 1 KLHL3 NA18507 esv2042994 5 137050279 137051977 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4537329 S 1 0 1 KLHL3 NA18507 nsv513264 5 137050378 137051876 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626771 S 1 0 1 KLHL3 1 esv2886 5 137050426 137051870 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25327 S 1 0 1 Single Asian sample YH KLHL3 YH esv988201 5 137050476 137051794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570058 S 3 0 1 KLHL3 HuRef esv1408200 5 137050477 137051801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154831 S 2 0 1 KLHL3 HuRef nsv328717 5 137050478 137051801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347295 M 24 KLHL3 esv7996 5 137050485 137051783 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30437 S 1 0 1 KLHL3 SJK nsv819360 5 137116056 137116458 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418939 S 2 1 0 HNRNPA0 AK1 nsv830501 5 137152365 137340623 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445090 S 95 1 0 FAM13B,MYOT,NPY6R,PKD2L2 nsv5023 5 137176547 137200879 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8157 S 9 0 1 "" NA12156 dgv6339n71 5 137254243 137291133 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882934,nsv882935 M 6533 0 6 PKD2L2 SP50649,SP52094,SP52835,SP54490,SP54556,SP56301 nsv882936 5 137271069 137291842 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499694 S 6533 0 1 PKD2L2 SP50652 nsv830502 5 137272627 137470176 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445091 S 95 1 0 FAM13B,PKD2L2,WNT8A nsv882937 5 137555847 137601624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502503 S 6533 0 1 CDC23 SP51226 esv1005958 5 137759721 137765291 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565113 S 3 1 0 KDM3B HuRef esv1001610 5 137763748 137770474 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587091 S 3 1 0 KDM3B HuRef esv997516 5 137764902 137773112 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586124 S 3 1 0 KDM3B HuRef esv1009373 5 137768124 137768856 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565273 S 3 1 0 KDM3B HuRef esv1007306 5 137770219 137781140 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563822 S 3 1 0 KDM3B HuRef nsv5024 5 137803019 137833294 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10476 S 9 1 0 EGR1,REEP2 NA18956 nsv528851 5 137810103 137833551 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705530 S 2026 0 1 EGR1,REEP2 nsv5025 5 137817246 137846651 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3388 S 9 0 1 EGR1 NA12878 dgv1855e1 5 137833483 137865270 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1245,essv20481 M 271 0 0 "" NA12249 nsv10751 5 137833594 137848915 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15597,nssv13496,nssv14641,nssv15734,nssv13734,nssv13665,nssv16133,nssv15561,nssv13282,nssv16140,nssv12940,nssv13585,nssv14166,nssv14223,nssv13717,nssv13715,nssv14982,nssv14829,nssv12671,nssv13592,nssv13918,nssv13397,nssv14678,nssv15373,nssv13700,nssv13908,nssv14116,nssv12529,nssv14164,nssv15343,nssv14219 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv823247 5 137834218 137844879 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432058 S 31 0 1 "" AK20 nsv819559 5 137835205 137844149 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418559 S 2 1 0 "" AK1 nsv820335 5 137835355 137844879 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420542 S 1 0 1 "" NA10851 nsv499244 5 137835384 137844832 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585967 S 9 0 1 "" esv24779 5 137835616 137844524 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17355 S 451 37 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2421608 5 137835860 137844856 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5110534,essv5066569,essv5052353,essv5076486,essv5009168,essv5062699,essv5126175,essv5150154,essv5153560,essv5008051,essv5032481,essv5036557,essv5075222,essv5147626 M 1184 0 14 "" NA10845,NA11930,NA12056,NA12249,NA12707,NA12878,NA12891,NA20287,NA20288,NA20515,NA20518,NA20519,NA20792,NA20810 nsv441965 5 137836323 137843610 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv329728 5 137873977 137875785 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348306 M 24 ETF1 nsv529022 5 138004751 138019751 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705733 S 2026 1 0 "" nsv527078 5 138007057 138015338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703457 S 2026 0 1 "" nsv5026 5 138075332 138108104 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv498 S 9 1 0 "" NA19240 esv2421347 5 138094667 138101564 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5078926,essv5080148,essv5093212,essv5037587,essv5089488,essv5146005,essv5115936,essv5015469,essv5057771,essv5044370,essv5022923,essv5158448,essv5096926,essv5052393,essv5152791,essv5087407,essv5012394,essv5023804,essv5003010,essv5154614,essv5034421 M 1184 0 21 "" NA18626,NA18923,NA18925,NA19036,NA19117,NA19174,NA19213,NA19315,NA19316,NA19396,NA19397,NA19404,NA19429,NA19435,NA19446,NA19455,NA19462,NA19700,NA19702,NA20290,NA21521 esv2200225 5 138136274 138136642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966359 S 1 0 1 CTNNA1 NA18507 esv1333927 5 138136493 138136568 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340198 S 2 0 1 CTNNA1 HuRef dgv6340n71 5 138346057 138401892 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882939,nsv882938 M 6533 0 2 SIL1 SP51145,SP56007 nsv436490 5 138421012 138424391 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466244 S 2 0 1 Samples from several populations that are part of the HapMap project. SIL1 NA18505 nsv5027 5 138469677 138502391 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2546 S 9 1 0 SIL1 NA18555 esv6667 5 138631860 138631914 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29108 S 1 1 0 "" SJK nsv882940 5 138675728 138695897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515210 S 6533 0 1 MATR3 SP56138 esv28262 5 138738106 138755318 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19919 S 451 1 0 MZB1,SLC23A1 NA18511 nsv482090 5 138751157 138753504 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558451 S 1 1 0 MZB1 KB1 nsv519808 5 138760478 139165693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697062 S 2026 0 1 CXXC5,DNAJC18,ECSCR,PSD2,SPATA24,TMEM173,UBE2D2 esv2568140 5 138761590 138763164 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172823 S 1 0 1 SPATA24 NA18507 esv1917494 5 138762212 138762832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578271 S 1 0 1 SPATA24 NA18507 nsv328925 5 138762463 138762754 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347503 M 24 SPATA24 nsv823248 5 138806101 138811378 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429812 S 31 1 0 "" AK14 nsv516200 5 138831089 138841262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666767,nssv661522 M 2026 0 2 TMEM173 nsv830504 5 138871674 139060889 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445092 S 95 1 0 CXXC5,UBE2D2 nsv882941 5 138884968 139068261 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573780 S 6533 0 1 CXXC5,UBE2D2 IS33504 nsv882942 5 138884968 139165693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592156 S 6533 0 1 CXXC5,PSD2,UBE2D2 IS39233 nsv5028 5 138889261 138923166 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8158 S 9 1 0 UBE2D2 NA12156 nsv882943 5 138907150 138924908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510705 S 6533 0 1 UBE2D2 SP54988 nsv830505 5 138911366 139105069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445094,nssv1445093 M 95 0 2 CXXC5,UBE2D2 nsv462460 5 138913335 139125233 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538616 S 1557 0 1 CXXC5,UBE2D2 NINDS_271 dgv6341n71 5 138991693 139134946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882948,nsv882949,nsv882944 M 6533 0 3 CXXC5 MS10311,MS16315,MS17208 nsv882945 5 138991693 139203269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543442 S 6533 0 1 CXXC5,PSD2 MS16153 dgv6342n71 5 138994040 139043348 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882947,nsv882946 M 6533 0 2 CXXC5 SP54956,SP54988 nsv818386 5 139068261 139125268 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417696 S 112 1 0 "" NA18999 nsv471051 5 139165693 139237787 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545174 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRG2,PSD2 HGDP00599 nsv830506 5 139197509 139380085 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445095 S 95 0 1 NRG2,PSD2 esv1004341 5 139226830 139235725 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565317 S 3 0 1 NRG2 HuRef esv272607 5 139283598 139283956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580116,essv2579910 M 7 2 0 Samples from several populations that are part of the HapMap project. NRG2 NA12878,NA12892 esv267857 5 139283692 139284033 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503013,essv2498510,essv2498788,essv2511982 M 157 4 0 Samples from several populations that are part of the HapMap project. NRG2 NA18507,NA18858,NA19138,NA19238 nsv526406 5 139303441 139309250 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702706 S 2026 1 0 NRG2 esv26674 5 139348118 139349487 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20934 S 451 0 2 NRG2 NA12489,NA12749 nsv819068 5 139485857 139486548 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419057 S 2 0 1 C5orf53 AK1 nsv830507 5 139516108 139694346 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445097 S 95 0 1 C5orf32,HBEGF,PFDN1 esv269477 5 139575274 139575625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514693,essv2517446,essv2515341,essv2515172,essv2514220,essv2517598,essv2517275,essv2513814,essv2519431 M 157 9 0 Samples from several populations that are part of the HapMap project. C5orf32 NA07346,NA11840,NA11918,NA12249,NA12812,NA12874,NA12878,NA18970,NA19143 esv273384 5 139575274 139575625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581469 S 7 1 0 Samples from several populations that are part of the HapMap project. C5orf32 NA12878 nsv509090 5 139671075 139780793 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623455 S 4 1 0 ANKHD1,ANKHD1-EIF4EBP3,HBEGF,SLC4A9 NA18994 esv2418311 5 139818537 139818952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4728765 S 1 0 1 ANKHD1,ANKHD1-EIF4EBP3 NA18507 nsv330052 5 139818717 139818766 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348630 M 24 ANKHD1,ANKHD1-EIF4EBP3 nsv462462 5 139916423 139985970 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538618 S 1557 0 1 APBB3,SLC35A4,SRA1 1780854215_A nsv518560 5 139985294 139986614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696003 S 2026 0 1 "" nsv523239 5 139986614 139988603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698966 S 2026 0 1 "" nsv471435 5 140030566 140033355 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548273,nssv548271,nssv548272 M 3 DND1,WDR55 nsv830508 5 140035157 140228842 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445098 S 95 0 1 HARS,HARS2,PCDHA1,PCDHA10,PCDHA11,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,VTRNA1-1,VTRNA1-2,VTRNA1-3,ZMAT2 nsv882950 5 140068315 140208183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598013 S 6533 0 1 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,VTRNA1-1,VTRNA1-2,VTRNA1-3 IS40819 nsv327820 5 140068985 140077161 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346398 M 24 VTRNA1-1 esv23837 5 140076978 140085501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18110 S 451 0 1 VTRNA1-2 NA12044 dgv6343n71 5 140103612 140278716 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882955,nsv882951 M 6533 0 10 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 IS32322,IS33475,IS33684,IS34057,IS34235,IS37646,IS38176,IS40230,MS10311,MS10698 esv2120757 5 140121505 140121895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838350 S 1 0 1 "" NA18507 dgv1856e1 5 140137124 140307304 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8818,essv291,essv8465,essv21730,essv3025,essv2815,essv22532,essv17527,essv18920,essv7527,essv12205,essv18650,essv6188,essv24121,essv18135,essv14483,essv9740,essv4238,essv19455,essv23342,essv11702,essv12794,essv17823,essv11264,essv16529,essv19266,essv19928,essv12964,essv23896,essv20097,essv17182,essv21024,essv8616,essv14735,essv16069,essv3741,essv23429,essv15144 M 271 0 0 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1 NA06991,NA07048,NA07348,NA10831,NA10838,NA10847,NA10854,NA11840,NA11993,NA12005,NA12234,NA12248,NA12750,NA12762,NA12813,NA12814,NA18501,NA18508,NA18516,NA18532,NA18545,NA18603,NA18859,NA18913,NA18961,NA18978,NA18981,NA18987,NA19101,NA19120,NA19129,NA19154,NA19159,NA19171,NA19202,NA19204,NA19210,NA19239 dgv1857e1 5 140137124 140808866 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24255,essv22446,esv17,essv18319,essv24914 M 271 0 0 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2,PCDHB1,PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB15,PCDHB16,PCDHB17,PCDHB18,PCDHB19P,PCDHB2,PCDHB3,PCDHB4,PCDHB5,PCDHB6,PCDHB7,PCDHB8,PCDHB9,PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGB8P,SLC25A2,TAF7 NA06994,NA10846,NA10856,NA12761 nsv882952 5 140137611 140208183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584783 S 6533 0 1 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 IS37172 dgv6344n71 5 140137611 140241861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882953,nsv882954 M 6533 0 5 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 IS33455,IS38144,IS39233,IS41634,MS16153 dgv970n67 5 140144598 140203413 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823249,nsv823250 M 31 2 0 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 NA18968,NA18973 nsv330045 5 140161185 140167174 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348623 M 24 PCDHA1,PCDHA2,PCDHA3,PCDHA4 esv8310 5 140167005 140201277 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30751 S 1 0 1 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 SJK nsv882956 5 140169075 140241861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566884 S 6533 0 1 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 IS30969 nsv882957 5 140169075 140278716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569576,nssv1582341,nssv1566706,nssv1568573,nssv1567390 M 6533 0 5 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 IS30883,IS31074,IS31306,IS31634,IS35911 dgv6345n71 5 140177406 140201114 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882959,nsv882958 M 6533 0 3 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 SP54725,SP54988,SP56223 nsv882960 5 140185051 140201114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516309 S 6533 1 0 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 SP56789 nsv10752 5 140193978 140201328 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12701,nssv13938,nssv16170,nssv13526,nssv16163 M 31 3 2 Samples from several populations that are part of the HapMap project. PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 NA12872,NA18564,NA18972,NA19007,NA19221 dgv6346n71 5 140194173 140209619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882962,nsv882964,nsv882963,nsv882961 M 6533 0 20 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 SP50615,SP51109,SP51427,SP51480,SP51483,SP52174,SP52234,SP52493,SP54489,SP54591,SP54875,SP55462,SP55547,SP56185,SP56518,SP56922,SP57067,SP57463,SP58206,SP80970 esv21596 5 140194552 140195842 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9741,esv14580 M 451 7 0 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7 NA11931,NA12004,NA12828,NA15510,NA19147,NA19190,NA19225 nsv882965 5 140195179 140209619 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499442,nssv1505100,nssv1519259,nssv1500947,nssv1500377,nssv1517584,nssv1501837 M 6533 1 6 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 SP50017,SP50159,SP50870,SP50942,SP53048,SP57324,SP80992 nsv436885 5 140195203 140205865 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466245 S 2 1 0 Samples from several populations that are part of the HapMap project. PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 NA18505 esv27071 5 140195897 140202238 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14400 S 451 0 1 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 NA19225 esv33939 5 140197260 140219007 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98150,essv101331,essv96996,essv96204,essv99620,essv92590,essv98104,essv100240,essv100502,essv100322,essv96263 M 51 1 10 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 21772,21805,21817,22007,22217,22233,22259,22286,22298,22300,22371 dgv6347n71 5 140201118 140220234 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882968,nsv882969,nsv882967,nsv882966 M 6533 0 29 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 SP50058,SP50087,SP51196,SP51293,SP51469,SP52338,SP54078,SP54355,SP54434,SP54652,SP54766,SP54789,SP55174,SP55219,SP55287,SP55401,SP55488,SP55624,SP55984,SP56926,SP57045,SP57173,SP57238,SP57273,SP57551,SP57779,SP58114,SP58305,SP81009 nsv823251 5 140201787 140203413 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428288 S 31 1 0 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 AK10 esv26168 5 140202333 140219069 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13239 S 451 37 0 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv971n67 5 140202333 140219200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823260,nsv823259,nsv823261,nsv823252 M 31 0 30 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820841 5 140202333 140219200 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420543 S 1 0 1 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA10851 nsv10753 5 140202344 140219348 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14196,nssv13998,nssv15794,nssv14708,nssv13730,nssv13312,nssv15627,nssv14798,nssv12970,nssv13775,nssv13978,nssv15591,nssv14279,nssv15403,nssv13794,nssv13695,nssv13968,nssv13622,nssv13777,nssv14253,nssv16193,nssv13615,nssv13457,nssv14859,nssv14176,nssv12731,nssv14146,nssv13948,nssv14194,nssv12559,nssv14701,nssv14249,nssv13487,nssv15012,nssv16230,nssv14224,nssv14671,nssv16200,nssv13556 M 31 30 0 Samples from several populations that are part of the HapMap project. PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv819207 5 140202490 140219230 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418664 S 2 1 0 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 AK1 dgv972n67 5 140202826 140203418 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823255,nsv823256,nsv823257,nsv823258 M 31 8 0 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8 AK14,AK2,AK6,NA18564,NA18570,NA18582,NA18969,NA18997 esv29977 5 140203240 140216724 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84216 S 2 1 0 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 HuRef nsv514324 5 140204000 140218800 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627771 S 1414 0 1 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 esv2421858 5 140204020 140217732 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5122784,essv5099576,essv5128992,essv5077384,essv5117811,essv5088172,essv5014393,essv5023226,essv5036866,essv5034512,essv5071793,essv5151784,essv5033447,essv5092960,essv5021344,essv5073435,essv5057147,essv5077158,essv5030516,essv5006795,essv5152470,essv5023352,essv5087213,essv5153262,essv5055782,essv5159477,essv5103392,essv5151068,essv5055631,essv5048771,essv5142657,essv5014459,essv5086664,essv5126915,essv5115147,essv5079149,essv5093906,essv5008768,essv5159179,essv5155506,essv5117992,essv5160352,essv5002896,essv5040507,essv5117352,essv5047797,essv5026282,essv5155629,essv5108760,essv5083388,essv5098741,essv5040724,essv5123248,essv5014982,essv5077422,essv5109630,essv5082667,essv5034430,essv5040733,essv5126250,essv5116679,essv5057489,essv5045188,essv5071635,essv5106218,essv5160953,essv5109863,essv5097153,essv5141692,essv5057013,essv5104687,essv5044988,essv5005982,essv5114647,essv5076502,essv5070487,essv5155538,essv5024023,essv5086668,essv5156996,essv5029772,essv5070049,essv5015182,essv5063850,essv5113201,essv5105739,essv5107926,essv5081879,essv5137918,essv5118966,essv5147897,essv5109037,essv5033205,essv5129919,essv5061245,essv5011203,essv5003996,essv5120245,essv5052012,essv5069487,essv5116301,essv5131038,essv5121706,essv5029160,essv5016562,essv5103469,essv5130975,essv5031322,essv5140543,essv5089588,essv5119356,essv5127852,essv5101515,essv5005352,essv5032653,essv5046415,essv5118593,essv5038517,essv5074140,essv5067325,essv5089874,essv5109709,essv5088207,essv5004521,essv5054276,essv5099094,essv5112842,essv5019305,essv5072446,essv5010651,essv5136232,essv5101212,essv5141712,essv5035881,essv5134116,essv5106974,essv5114274,essv5082642,essv5016210,essv5016034,essv5013783,essv5127567,essv5035140,essv5094375,essv5010349,essv5099228,essv5077823,essv5159617,essv5117298,essv5085771,essv5049618,essv5031345,essv5074067,essv5021619,essv5133186,essv5077450,essv5140265,essv5047813,essv5029395,essv5105573,essv5075156,essv5154432,essv5092588,essv5129280,essv5027422,essv5094767,essv5015559,essv5102497,essv5136212,essv5106859,essv5091668,essv5140009,essv5136940,essv5129754,essv5094941,essv5063420,essv5036315,essv5128163,essv5011405,essv5044329,essv5010596 M 1184 0 181 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA06995,NA06997,NA07022,NA07037,NA07045,NA07056,NA10830,NA10840,NA10843,NA10855,NA10864,NA11832,NA11894,NA11919,NA12056,NA12057,NA12282,NA12287,NA12344,NA12347,NA12376,NA12489,NA12716,NA12739,NA12749,NA12767,NA12776,NA12778,NA12801,NA12812,NA12815,NA12818,NA12827,NA12829,NA17965,NA17967,NA18114,NA18157,NA18162,NA18500,NA18511,NA18518,NA18520,NA18557,NA18563,NA18609,NA18610,NA18637,NA18861,NA18874,NA18990,NA19005,NA19027,NA19031,NA19059,NA19065,NA19083,NA19099,NA19141,NA19142,NA19149,NA19151,NA19172,NA19173,NA19179,NA19185,NA19235,NA19236,NA19310,NA19315,NA19318,NA19319,NA19327,NA19328,NA19359,NA19381,NA19393,NA19394,NA19396,NA19439,NA19444,NA19445,NA19455,NA19463,NA19466,NA19467,NA19468,NA19469,NA19471,NA19649,NA19650,NA19663,NA19665,NA19708,NA19716,NA19720,NA19721,NA19750,NA19751,NA19761,NA19771,NA19777,NA19778,NA19834,NA19836,NA19914,NA19915,NA20127,NA20281,NA20289,NA20290,NA20295,NA20297,NA20341,NA20502,NA20504,NA20516,NA20528,NA20535,NA20766,NA20778,NA20786,NA20813,NA20816,NA20819,NA20873,NA20885,NA20887,NA20894,NA20896,NA21100,NA21295,NA21301,NA21312,NA21313,NA21314,NA21320,NA21352,NA21355,NA21357,NA21359,NA21361,NA21364,NA21365,NA21366,NA21371,NA21390,NA21391,NA21402,NA21404,NA21405,NA21414,NA21424,NA21425,NA21438,NA21440,NA21451,NA21476,NA21512,NA21514,NA21523,NA21525,NA21528,NA21574,NA21575,NA21578,NA21587,NA21608,NA21615,NA21617,NA21620,NA21631,NA21632,NA21634,NA21689,NA21693,NA21717,NA21718,NA21738,NA21739,NA21740 nsv442962 5 140204020 140223940 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 dgv724n27 5 140207402 140212530 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462465,nsv462464,nsv462466,nsv462468,nsv462467,nsv462463 M 1557 0 6 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 HGDP00140,HGDP00226,HGDP00433,HGDP00618,HGDP01067,HGDP01323 nsv437955 5 140208156 140210355 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468709,nssv468708 M 269 0 2 Samples from several populations that are part of the HapMap project. PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA18637,NA18990 nsv515909 5 140208183 140212530 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655339,nssv688847,nssv693611,nssv657427,nssv665249,nssv654853,nssv693553,nssv677364,nssv672714,nssv676596,nssv687794 M 2026 0 11 PCDHA1,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 nsv823262 5 140216930 140218125 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428290 S 31 1 0 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 AK10 nsv823263 5 140217407 140218137 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423413 S 31 1 0 PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA18999 nsv823264 5 140219005 140254600 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438842 S 31 1 0 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA18973 nsv882970 5 140230655 140249401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510708 S 6533 0 1 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 SP54988 nsv10754 5 140242543 140254768 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16223 S 31 1 0 Samples from several populations that are part of the HapMap project. PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9 NA18972 esv2505753 5 140294663 140296046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201194 S 1 0 1 PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1 NA18507 nsv428127 5 140376537 140678924 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450503,nssv450504 M 62 0 2 PCDHB1,PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB15,PCDHB16,PCDHB17,PCDHB18,PCDHB19P,PCDHB2,PCDHB3,PCDHB4,PCDHB5,PCDHB6,PCDHB7,PCDHB8,PCDHB9,SLC25A2,TAF7 NA19147,NA19225 esv269793 5 140398657 140398753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506729,essv2499208 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19108,NA19114 nsv818387 5 140400175 140416247 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417025 S 112 1 0 PCDHB1 NA07000 nsv882971 5 140444743 140502609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595366,nssv1571465,nssv1549673 M 6533 0 3 PCDHB2,PCDHB3,PCDHB4,PCDHB5 IS32737,IS40230,MS18276 dgv6348n71 5 140444743 140628736 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882973,nsv882975,nsv882972 M 6533 0 6 PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB15,PCDHB16,PCDHB17,PCDHB18,PCDHB19P,PCDHB2,PCDHB3,PCDHB4,PCDHB5,PCDHB6,PCDHB7,PCDHB8,PCDHB9 IS32322,IS34057,IS39243,MS10311,MS10698,MS17208 nsv516514 5 140457078 140460539 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695917,nssv676162,nssv668777 M 2026 3 0 PCDHB2,PCDHB3 nsv522785 5 140463055 140510713 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698429 S 2026 0 1 PCDHB3,PCDHB4,PCDHB5,PCDHB6 nsv471634 5 140466162 140618127 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551161,nssv551167,nssv551163,nssv551166,nssv551164,nssv551159,nssv551165,nssv551158,nssv551160,nssv551162 M 48 7 3 PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB15,PCDHB16,PCDHB17,PCDHB18,PCDHB19P,PCDHB4,PCDHB5,PCDHB6,PCDHB7,PCDHB8,PCDHB9 NA10469,NA10470,NA10471,NA11323,NA11521,NA11523,NA15724,NA15728,NA15733,NA17016 dgv6349n71 5 140482528 140586986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882974,nsv882976 M 6533 0 2 PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB16,PCDHB17,PCDHB4,PCDHB5,PCDHB6,PCDHB7,PCDHB8,PCDHB9 MS16153,MS16315 dgv1858e1 5 140488471 140678806 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2967,essv19555,essv20294,essv21045,essv20081,essv4731 M 271 0 0 PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB15,PCDHB16,PCDHB17,PCDHB18,PCDHB19P,PCDHB5,PCDHB6,PCDHB7,PCDHB8,PCDHB9,SLC25A2,TAF7 NA06991,NA07048,NA12144,NA12864,NA18620,NA18981 nsv5029 5 140509445 140520182 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4863 S 9 1 0 PCDHB17,PCDHB6 NA19129 dgv6350n71 5 140510713 140608740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882980,nsv882979,nsv882978,nsv882977 M 6533 0 5 PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB14,PCDHB15,PCDHB16,PCDHB17,PCDHB18,PCDHB19P,PCDHB6,PCDHB7,PCDHB8,PCDHB9 IS33514,IS34407,IS35484,MS18276,SP53330 nsv10755 5 140511547 140517414 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14731 S 31 0 1 Samples from several populations that are part of the HapMap project. PCDHB17,PCDHB6 NA19240 esv25821 5 140512403 140516973 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17773 S 451 0 1 PCDHB17,PCDHB6 NA19240 nsv509092 5 140515687 140551988 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623456,nssv618045,nssv620835,nssv619425 M 4 4 0 PCDHB16,PCDHB17,PCDHB7,PCDHB8,PCDHB9 CHM,NA10860,NA15510,NA18994 nsv823266 5 140516731 140582619 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438843 S 31 1 0 PCDHB10,PCDHB11,PCDHB12,PCDHB13,PCDHB16,PCDHB17,PCDHB7,PCDHB8,PCDHB9 NA18973 nsv278 5 140527498 140534839 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv278 S 1 1 0 PCDHB7 NA15510 nsv5030 5 140527498 140535436 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11112,nssv2547 M 9 2 0 PCDHB7 NA15510,NA18555 nsv471436 5 140532427 140536140 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548275,nssv548276,nssv548274 M 3 PCDHB7 nsv819721 5 140534356 140539608 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419694 S 2 1 0 PCDHB7,PCDHB8 AK1 esv28212 5 140534644 140540031 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21043 S 451 13 0 PCDHB7,PCDHB8 NA06985,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12776,NA12828,NA15510,NA19129 dgv973n67 5 140534671 140540121 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823268,nsv823271,nsv823270,nsv823274,nsv823272,nsv823267,nsv823269,nsv823273 M 31 13 0 PCDHB7,PCDHB8 AK10,AK14,AK16,AK2,AK6,NA18526,NA18537,NA18547,NA18564,NA18570,NA18592,NA18968,NA18997 nsv10756 5 140534700 140541809 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15657,nssv14028,nssv13000,nssv13824,nssv14226,nssv14283,nssv13805,nssv12791,nssv13645,nssv13586,nssv13517,nssv13725,nssv13807,nssv14254,nssv15824,nssv14828,nssv13342 M 31 17 0 Samples from several populations that are part of the HapMap project. PCDHB16,PCDHB7,PCDHB8 NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18517,NA18537,NA18563,NA18564,NA18942,NA18975,NA18980,NA19007,NA19132 nsv499084 5 140534917 140553526 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585623 S 9 1 0 PCDHB10,PCDHB16,PCDHB7,PCDHB8,PCDHB9 esv33618 5 140535970 140538710 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93883,essv95176,essv94741,essv101362,essv95248,essv101665,essv92864,essv96085,essv94912,essv97672,essv100123,essv100539,essv100429,essv96291 M 51 1 13 PCDHB7,PCDHB8 21634,21721,21791,21805,21872,21909,21939,22007,22231,22278,22286,22298,22300,22371 nsv5031 5 140537478 140562464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2548,nssv6026 M 9 2 0 PCDHB10,PCDHB11,PCDHB16,PCDHB8,PCDHB9 NA12156,NA18555 nsv471439 5 140537614 140540203 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548277,nssv548279,nssv548280 M 3 PCDHB8 nsv882981 5 140538764 140559542 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518906 S 6533 1 0 PCDHB10,PCDHB11,PCDHB16,PCDHB8,PCDHB9 SP58557 nsv823275 5 140549662 140550405 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421718 S 31 1 0 PCDHB9 NA18997 nsv823277 5 140570734 140575326 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440360 S 31 1 0 PCDHB12,PCDHB13 NA18564 nsv10757 5 140573036 140574775 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14313 S 31 1 0 Samples from several populations that are part of the HapMap project. PCDHB13 NA07048 nsv823278 5 140573138 140574676 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426676 S 31 1 0 PCDHB13 AK6 esv26005 5 140573322 140575134 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18752 S 451 4 0 PCDHB13 NA11995,NA12004,NA12156,NA12776 dgv6351n71 5 140669944 140781288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882982,nsv882983 M 6533 0 2 PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,TAF7 MS10311,MS18276 dgv6352n71 5 140669944 140872827 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882989,nsv882988,nsv882991,nsv882992,nsv882984 M 6533 0 6 PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGB8P,PCDHGC3,PCDHGC4,PCDHGC5,TAF7 IS33504,IS35484,IS37646,IS38176,IS39233,MS16153 dgv6353n71 5 140684647 140763780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv882986,nsv882985 M 6533 0 2 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5 IS39417,MS10698 nsv882987 5 140692037 140769338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502525 S 6533 1 0 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6 SP51238 nsv882990 5 140703358 140780892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575705 S 6533 0 1 PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7 IS33797 nsv823279 5 140741297 140742138 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436634 S 31 1 0 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGB1,PCDHGB2,PCDHGB3 NA18542 nsv823280 5 140748069 140757623 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430591 S 31 0 1 PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4 AK16 nsv519627 5 140752611 140787440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696959 S 2026 0 1 PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGB8P esv267823 5 140767215 140767309 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496682,essv2505745,essv2507220,essv2506501,essv2499019,essv2510859,essv2498698,essv2499504 M 157 8 0 Samples from several populations that are part of the HapMap project. PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5 NA07357,NA11894,NA18861,NA18870,NA19108,NA19114,NA19116,NA19138 nsv518799 5 140770117 140776283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694275 S 2026 0 1 PCDHGA1,PCDHGA10,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6 nsv327707 5 140770623 140775491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346285 M 24 PCDHGA1,PCDHGA10,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6 nsv462470 5 140841985 140872827 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538625 S 1557 0 1 PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGC3,PCDHGC4,PCDHGC5 1780862419_A esv25744 5 140848300 140889483 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19957 S 451 1 0 DIAPH1,PCDHGA1,PCDHGA10,PCDHGA11,PCDHGA12,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGA9,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4,PCDHGB5,PCDHGB6,PCDHGB7,PCDHGC3,PCDHGC4,PCDHGC5 NA07045 nsv516495 5 140935961 140984515 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680723,nssv695194,nssv654714,nssv668684 M 2026 3 1 DIAPH1,HDAC3 nsv5033 5 140958882 140990738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8159 S 9 1 0 DIAPH1,HDAC3 NA12156 nsv5034 5 141003524 141036341 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6027 S 9 1 0 ARAP3,FCHSD1 NA12156 nsv5035 5 141082103 141103513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3389 S 9 1 0 "" NA12878 esv1010241 5 141124263 141128401 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563872 S 3 0 1 "" HuRef esv993809 5 141164921 141173994 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563519 S 3 0 1 "" HuRef nsv509093 5 141166537 141244396 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623457,nssv619426 M 4 2 0 PCDH1 NA10860,NA18994 nsv526702 5 141315105 141319947 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703041 S 2026 0 1 PCDH12 nsv511116 5 141337146 141466891 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622372,nssv624300 M 4 0 0 GNPDA1,RNF14 NA10860,NA18994 nsv5036 5 141338057 141367849 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2710 S 9 1 0 GNPDA1,RNF14 NA18555 esv994231 5 141359467 141359975 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564789 S 3 1 0 "" HuRef esv1236234 5 141359853 141359853 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614085 S 2 1 0 "" HuRef esv25383 5 141418471 141420252 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17025 S 451 0 3 "" NA18861,NA19114,NA19129 nsv517105 5 141419542 141419625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688777,nssv685495,nssv681315,nssv654332,nssv656551,nssv653795,nssv667532 M 2026 0 7 "" esv4133 5 141439310 141439906 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26574 S 1 0 1 Single Asian sample YH "" YH nsv522282 5 141447110 141448438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695065 S 2026 0 1 "" esv2517312 5 141452571 141452823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258792 S 1 0 1 "" NA18507 nsv509994 5 141484410 141490410 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622100 S 4 0 1 NDFIP1 NA10860 nsv830509 5 141512181 141719834 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445099 S 95 1 0 NDFIP1,SPRY4 nsv5037 5 141584001 141616340 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6028 S 9 1 0 "" NA12156 esv28421 5 141711098 141712085 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17954 S 451 1 0 "" NA07045 esv1443862 5 141711465 141711465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777114 S 2 1 0 "" HuRef dgv216n6 5 141711598 141711950 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329631,nsv328791 M 24 "" esv2501165 5 141738425 141739366 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165155 S 1 1 0 "" NA18507 esv272280 5 141738799 141739155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580382,essv2578961 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239 esv271222 5 141738809 141739143 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565873,essv2575823,essv2571641,essv2536461,essv2543967,essv2556756,essv2577425,essv2548435,essv2576802,essv2550472,essv2535313,essv2547265,essv2529200,essv2577710,essv2564138,essv2540077,essv2520900,essv2557444,essv2557240,essv2552540,essv2551858,essv2532445,essv2562608,essv2569237,essv2578855,essv2550082,essv2558935,essv2537129,essv2539044,essv2527026,essv2561549,essv2544942,essv2541235,essv2538331,essv2542632,essv2540305,essv2534685,essv2561283,essv2539773,essv2519814,essv2531187,essv2532914,essv2567996,essv2528709,essv2541621,essv2535859,essv2572483,essv2542130,essv2551044,essv2568960,essv2543573,essv2556302,essv2527776,essv2562315,essv2539412,essv2534048,essv2578286,essv2555310,essv2529856,essv2573942,essv2534225,essv2522643,essv2531598,essv2543335,essv2525650,essv2526913,essv2529801,essv2575430,essv2575176,essv2538473,essv2526475,essv2560584,essv2523987,essv2574736,essv2530380,essv2572690,essv2568700,essv2549953,essv2571345,essv2546020,essv2574115,essv2551366,essv2537863,essv2533401,essv2547677,essv2563179 M 157 86 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07347,NA10847,NA11829,NA11830,NA11840,NA11920,NA11992,NA11994,NA12043,NA12045,NA12154,NA12234,NA12249,NA12717,NA12749,NA12761,NA12828,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18545,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18566,NA18573,NA18576,NA18577,NA18579,NA18592,NA18608,NA18609,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18949,NA18951,NA18959,NA18960,NA18961,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 nsv5038 5 141800260 141833896 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3391 S 9 1 0 "" NA12878 nsv5039 5 141849416 141882836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv500 S 9 1 0 "" NA19240 esv271043 5 141871567 141876747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514276 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv268456 5 141897689 141898028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519185,essv2517386,essv2518758,essv2514957,essv2517918,essv2517300,essv2518378 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11918,NA12045,NA12812,NA12872,NA18970,NA19240 esv273605 5 141897689 141898028 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581293 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv823281 5 141975081 141978702 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421721 S 31 0 1 FGF1 NA18997 nsv830510 5 141983446 142163802 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445100 S 95 1 0 ARHGAP26,FGF1 nsv525272 5 141990564 142000692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701373 S 2026 0 1 FGF1 esv27821 5 141996425 142001637 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13864 S 451 0 2 FGF1 NA18858,NA19190 nsv517346 5 141998044 142000692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692718,nssv660798,nssv656413,nssv678082,nssv651789,nssv653194,nssv661080,nssv677158,nssv657085,nssv680096,nssv699017,nssv687270,nssv687875,nssv661916,nssv651955,nssv685308,nssv667219 M 2026 0 17 FGF1 esv2421733 5 141998044 142001561 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5092106,essv5107812,essv5044593,essv5010563,essv5146771,essv5084772,essv5046903,essv5029643,essv5127586,essv5082423,essv5055187,essv5070109,essv5133010,essv5046224,essv5056797,essv5025234,essv5101623,essv5131967,essv5158151,essv5153476,essv5116075,essv5155573,essv5037086,essv5032489,essv5050999 M 1184 0 25 FGF1 NA18855,NA18857,NA18858,NA19028,NA19175,NA19190,NA19248,NA19249,NA19346,NA19390,NA19403,NA19431,NA19437,NA19440,NA19468,NA19834,NA19917,NA20334,NA20335,NA20341,NA20363,NA21311,NA21400,NA21523,NA21647 nsv441966 5 141998202 142000197 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FGF1 nsv514325 5 141999632 142000128 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627772 S 1414 0 1 FGF1 nsv882993 5 142005206 142054316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582284 S 6533 0 1 FGF1 IS35908 esv25431 5 142250677 142252413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21186 S 451 0 1 ARHGAP26 NA19190 nsv830511 5 142315631 142476887 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445101 S 95 1 0 ARHGAP26 esv270471 5 142335161 142335491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575979,essv2521311,essv2526032,essv2570819,essv2531819,essv2550805,essv2525455,essv2535308,essv2554198,essv2552078,essv2520430,essv2529126,essv2558351,essv2559769,essv2520092,essv2554906,essv2557145,essv2551817,essv2532296,essv2578623,essv2550081,essv2558932,essv2537127,essv2539080,essv2562932,essv2523924,essv2538437,essv2540360,essv2524609,essv2534663,essv2561278,essv2539869,essv2549510,essv2519833,essv2559834,essv2521981,essv2566035,essv2532882,essv2567839,essv2529055,essv2567459,essv2570188,essv2535620,essv2572379,essv2566817,essv2556336,essv2562251,essv2578233,essv2555333,essv2555561,essv2566407,essv2530089,essv2527612,essv2557734,essv2555962,essv2531397,essv2543267,essv2529776,essv2575349,essv2560469,essv2549754,essv2546098,essv2574188,essv2551415,essv2554520,essv2547766,essv2524864 M 157 67 0 Samples from several populations that are part of the HapMap project. ARHGAP26 NA07346,NA07347,NA07357,NA11830,NA11894,NA11918,NA11993,NA12006,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12749,NA12750,NA12776,NA12815,NA12872,NA18501,NA18504,NA18505,NA18510,NA18511,NA18516,NA18517,NA18519,NA18532,NA18537,NA18547,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18608,NA18609,NA18853,NA18871,NA18909,NA18940,NA18943,NA18945,NA18948,NA18949,NA18952,NA18953,NA18956,NA18961,NA18965,NA19093,NA19102,NA19190,NA19225,NA19239,NA19240,NA19257 esv273367 5 142335162 142335492 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584391,essv2583466 M 7 2 0 Samples from several populations that are part of the HapMap project. ARHGAP26 NA19239,NA19240 nsv522807 5 142397851 142510153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698452 S 2026 0 1 ARHGAP26 nsv507298 5 142436925 142442925 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621821,nssv620323 M 4 2 0 ARHGAP26 NA10860,NA15510 nsv5040 5 142532431 142564848 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3392 S 9 1 0 ARHGAP26 NA12878 esv33748 5 142618460 142679788 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95847,essv99820 M 51 0 2 NR3C1 21911,22086 nsv509995 5 142623096 142629096 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622101,nssv623986,nssv621272,nssv618217 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv5041 5 142633382 142678089 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8160 S 9 0 1 NR3C1 NA12156 esv1954637 5 142644559 142645077 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917559 S 1 0 1 NR3C1 NA18507 nsv328009 5 142644710 142644774 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346587 M 24 NR3C1 nsv328818 5 142644710 142644839 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347396 M 24 NR3C1 esv1001228 5 142644742 142644806 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581726 S 3 0 1 NR3C1 HuRef esv1765773 5 142644840 142644905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741372 S 2 0 1 NR3C1 HuRef nsv327674 5 142644841 142644905 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346252 M 24 NR3C1 nsv327858 5 142715262 142719683 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346436 M 24 NR3C1 nsv882994 5 142750328 142771870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507772 S 6533 0 1 NR3C1 SP54725 esv1786342 5 142793164 142793164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075080 S 2 1 0 NR3C1 HuRef nsv513265 5 142841271 142846521 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626772 S 1 0 1 "" 1 esv2606972 5 142915064 142916730 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358340 S 1 0 1 "" NA18507 esv2321823 5 142915370 142916043 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951146 S 1 0 1 "" NA18507 esv5382 5 142915517 142915925 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27823 S 1 0 1 Single Asian sample YH "" YH esv990553 5 142915569 142915880 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570865 S 3 0 1 "" HuRef esv8926 5 142915572 142915871 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31367 S 1 0 1 "" SJK esv1114530 5 142915573 142915885 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252123 S 2 0 1 "" HuRef nsv329304 5 142915574 142915885 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347882 M 24 "" nsv830512 5 142916989 143135031 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445103,nssv1445102 M 95 2 0 "" esv268882 5 142990965 142991306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521418,essv2542367,essv2521863,essv2550794,essv2525488,essv2535351,essv2564523,essv2578007,essv2576200,essv2555173,essv2537447,essv2546786,essv2563086,essv2523668,essv2553088,essv2541318,essv2519694,essv2522215,essv2566092,essv2532769,essv2541602,essv2563730,essv2535697,essv2572537,essv2559305,essv2555683,essv2573690,essv2572095,essv2536133,essv2538169,essv2525037,essv2563390 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA10847,NA11894,NA11919,NA12144,NA12155,NA12156,NA12249,NA12751,NA12761,NA12814,NA12872,NA12878,NA12892,NA18532,NA18537,NA18542,NA18545,NA18566,NA18571,NA18572,NA18576,NA18592,NA18603,NA18608,NA18609,NA18638,NA18945,NA18964,NA18973 esv272511 5 142990966 142991295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582102,essv2582797 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv1009028 5 143006024 143006024 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584668 S 3 1 0 "" HuRef esv1357332 5 143006025 143006025 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951043 S 2 1 0 "" HuRef nsv328594 5 143006026 143006026 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347172 M 24 "" nsv5042 5 143057061 143087457 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8161 S 9 0 1 "" NA12156 esv2477591 5 143059996 143061383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176323 S 1 0 1 "" NA18507 esv2012585 5 143060271 143060858 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497898 S 1 0 1 "" NA18507 esv988298 5 143060449 143060650 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570330 S 3 0 1 "" HuRef esv1405685 5 143060453 143060655 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345731 S 2 0 1 "" HuRef nsv521378 5 143062811 143077331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697988 S 2026 0 1 "" nsv823282 5 143115298 143115848 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429058 S 31 0 1 "" AK12 esv1006296 5 143116306 143116306 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581433 S 3 1 0 "" HuRef nsv329231 5 143116308 143116308 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347809 M 24 "" esv999405 5 143116356 143116356 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574215 S 3 1 0 "" HuRef esv1217420 5 143116357 143116357 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678532 S 2 1 0 "" HuRef nsv328790 5 143116358 143116358 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347368 M 24 "" nsv882995 5 143121538 143159056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536971 S 6533 0 1 "" MS13045 dgv974n67 5 143161105 143166415 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823283,nsv823284 M 31 0 2 "" AK8,NA18951 esv275558 5 143167599 143171057 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585564,essv2585466 M 1250 1 1 "" esv268721 5 143280298 143280639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542590,essv2536702,essv2561927,essv2544961,essv2541213,essv2524621,essv2564964,essv2561238,essv2559889,essv2522165,essv2529002,essv2567571,essv2572565,essv2559283,essv2533579,essv2555664,essv2530051,essv2557647,essv2573617,essv2530218,essv2551257,essv2563267 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA11919,NA11920,NA12874,NA18526,NA18545,NA18555,NA18558,NA18562,NA18570,NA18571,NA18579,NA18582,NA18609,NA18638,NA18944,NA18945,NA18949,NA18953,NA18964,NA19141,NA19257 nsv882996 5 143297863 143392983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583310 S 6533 1 0 "" IS36412 esv2248472 5 143333650 143334193 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559546 S 1 0 1 "" NA18507 esv5172 5 143386222 143389656 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27613 S 1 0 0 Single Asian sample YH "" YH esv27792 5 143386668 143389627 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15691 S 451 0 2 "" NA18511,NA19099 nsv823285 5 143386864 143389613 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438158,nssv1432742,nssv1439679 M 31 0 3 "" NA18537,NA18592,NA18951 nsv441967 5 143386880 143390529 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514326 5 143387056 143389376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627773 S 1414 0 1 "" esv2423226 5 143387114 143388052 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271602 S 1 1 0 "" NA18507 nsv329427 5 143387340 143387340 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348005 M 24 "" esv268851 5 143394053 143400144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493226,essv2501128,essv2508758,essv2494555,essv2497229,essv2511316,essv2500618,essv2512719,essv2496070,essv2498631,essv2504895,essv2505431,essv2497507,essv2502117 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18516,NA18532,NA18550,NA18552,NA18570,NA18571,NA18577,NA18603,NA18858,NA18942,NA18952,NA19147,NA19257 esv1007211 5 143394082 143396695 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563893 S 3 1 0 "" HuRef nsv882997 5 143454324 143543003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583311 S 6533 1 0 KCTD16,YIPF5 IS36412 nsv5044 5 143458295 143463541 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4864 S 9 1 0 "" NA19129 esv2614810 5 143492796 143496247 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227262 S 1 0 1 "" NA18507 esv3364 5 143492812 143493030 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25805 S 1 1 0 Single Asian sample YH "" YH nsv513266 5 143492880 143497674 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626773 S 1 0 1 "" 1 esv4090 5 143492884 143495272 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26531 S 1 1 0 Single Asian sample YH "" YH esv4102 5 143493030 143495304 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26543 S 1 0 1 Single Asian sample YH "" YH esv7676 5 143493051 143495235 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30117 S 1 0 1 "" SJK nsv327283 5 143493071 143495240 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345861 M 24 "" nsv329721 5 143495247 143495247 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348299 M 24 "" nsv5045 5 143552523 143558412 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9677 S 9 1 0 KCTD16 NA18507 esv273840 5 143554330 143554415 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581573 S 7 1 0 Samples from several populations that are part of the HapMap project. KCTD16 NA12878 esv2207447 5 143646855 143647292 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724111 S 1 0 1 KCTD16 NA18507 nsv830513 5 143658744 143827742 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445105,nssv1445104 M 95 2 0 KCTD16 esv271239 5 143807788 143808144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500916,essv2493974,essv2504818,essv2497027 M 157 4 0 Samples from several populations that are part of the HapMap project. KCTD16 NA18856,NA18871,NA19099,NA19190 nsv5046 5 143816139 143847556 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4865 S 9 1 0 KCTD16 NA19129 nsv462471 5 144002234 144018104 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538626 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01283 nsv523852 5 144032240 144033529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699687 S 2026 0 1 "" nsv882998 5 144033529 144307607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600089 S 6533 0 1 "" IS41839 esv2594870 5 144039067 144040442 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342879 S 1 0 0 "" NA18507 esv5597 5 144039801 144039914 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28038 S 1 0 0 "" SJK esv9338 5 144084641 144085549 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31779 S 1 0 0 "" SJK dgv1859e1 5 144153983 144340436 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4856,esv50 M 271 0 0 "" NA18540 nsv509996 5 144200058 144206058 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621273 S 4 0 1 "" NA15510 nsv5047 5 144249147 144294495 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6029 S 9 0 1 "" NA12156 nsv882999 5 144263729 144331494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568438,nssv1532780 M 6533 0 2 "" IS31285,MS10843 nsv883000 5 144272984 144362985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534823 S 6533 0 1 "" MS11733 esv1137827 5 144301732 144301732 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980131 S 2 1 0 "" HuRef esv1446790 5 144301733 144301733 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146194 S 2 1 0 "" HuRef esv269363 5 144311157 144312427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508084,essv2502594,essv2510700,essv2494176,essv2493225,essv2509712,essv2496147,essv2494758,essv2494916,essv2508967,essv2506179,essv2498350,essv2500357,essv2494543,essv2497207,essv2499980,essv2508327,essv2507814,essv2494442,essv2507636,essv2512715,essv2508123,essv2508615,essv2510003,essv2501600,essv2507533,essv2505273,essv2509355,essv2511619,essv2504899,essv2511073,essv2502414,essv2493102,essv2495170,essv2512826,essv2501240,essv2506979,essv2510920,essv2509454,essv2498875,essv2497074,essv2499736,essv2502249,essv2495043,essv2513107 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA12045,NA12750,NA18501,NA18502,NA18504,NA18508,NA18511,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18550,NA18552,NA18558,NA18561,NA18564,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18608,NA18638,NA18853,NA18909,NA18940,NA18942,NA18944,NA18948,NA18951,NA18964,NA18980,NA19093,NA19102,NA19116,NA19129,NA19138,NA19190,NA19225,NA19257 nsv883001 5 144446422 144491404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598987 S 6533 0 1 "" IS41263 nsv515631 5 144463419 144475936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664168,nssv679784 M 2026 0 2 "" dgv1860e1 5 144466435 144475035 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14943,esv927 M 271 0 0 "" NA19132 essv13210 5 144471430 144475035 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19120 nsv883002 5 144475035 144529455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576342 S 6533 0 1 "" IS34020 nsv528010 5 144491404 144492319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704537 S 2026 0 1 "" esv1742392 5 144543366 144543726 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009624 S 2 0 1 "" HuRef nsv462473 5 144566716 144635240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538628 S 1557 0 1 "" 1780862380_A esv275266 5 144629933 144632606 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585905 S 1250 0 1 "" esv6483 5 144647754 144647803 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28924 S 1 1 0 "" SJK nsv883003 5 144652356 144709095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501387 S 6533 0 1 "" SP50936 nsv527012 5 144661751 144682989 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703387 S 2026 1 0 "" esv1020467 5 144733481 144733481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793848 S 2 1 0 "" HuRef esv1469345 5 144733548 144733548 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653899 S 2 1 0 "" HuRef nsv507299 5 144805808 144811808 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617693,nssv620325 M 4 2 0 "" CHM,NA15510 nsv5048 5 144818835 144843365 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8163 S 9 0 1 "" NA12156 nsv513267 5 144852042 144853011 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626774 S 1 0 1 "" 1 esv5063 5 144852049 144853048 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27504 S 1 0 1 Single Asian sample YH "" YH esv6976 5 144852086 144852998 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29417 S 1 0 1 "" SJK esv25091 5 144852124 144852943 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12225 S 451 4 0 "" NA12287,NA18502,NA18916,NA19114 nsv821009 5 144852124 144852943 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420544 S 1 0 1 "" NA10851 nsv511311 5 144852223 144855162 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625354 S 1 0 1 "" 1 nsv5049 5 144880899 144915157 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3393 S 9 1 0 "" NA12878 dgv6354n71 5 144925842 145087779 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883005,nsv883004 M 6533 0 2 "" MS10393,MS20850 esv270721 5 144989515 144990696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512514,essv2509944,essv2504625,essv2497551,essv2499777,essv2502178 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18508,NA19099,NA19147,NA19225,NA19257 esv275206 5 144996814 145017125 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585377 S 1250 0 1 "" nsv462474 5 145048194 145123968 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538629 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRELID2 HGDP01010 esv23730 5 145189228 145193716 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19333 S 451 1 0 PRELID2 NA18517 nsv883006 5 145430779 145652624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536601 S 6533 0 1 LARS,PLAC8L1,RBM27 MS12860 nsv428128 5 145484171 145663073 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450506 S 62 0 1 LARS,RBM27 HGDP00478 dgv6355n71 5 145486293 145652624 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883008,nsv883007 M 6533 0 5 LARS,RBM27 IS33811,IS41881,MS11703,MS14485,SP51132 esv1264154 5 145534279 145534279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248889 S 2 1 0 LARS HuRef dgv6356n71 5 145548070 145652624 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883012,nsv883011,nsv883009 M 6533 0 5 RBM27 IS32322,IS36244,IS39716,IS41634,MS19068 dgv6357n71 5 145563816 145632172 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883010,nsv883013 M 6533 0 2 RBM27 MS16153,SP56085 nsv523502 5 145568676 145620180 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699271 S 2026 1 0 RBM27 dgv725n27 5 145584828 145602665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462477,nsv462476 M 1557 0 2 RBM27 1780854253_A,HGDP01331 nsv517251 5 145602665 145610930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654123,nssv662824,nssv690575 M 2026 0 3 RBM27 nsv462478 5 145602665 145667488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538632 S 1557 0 1 RBM27 1780862304_A nsv5050 5 145703116 145717663 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv501 S 9 1 0 "" NA19240 esv2615393 5 145727217 145728316 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167558 S 1 1 0 "" NA18507 esv1657175 5 145727942 145727942 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4168725 S 2 1 0 "" HuRef nsv329179 5 145727966 145727966 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347757 M 24 "" nsv5051 5 145770577 145804757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv502 S 9 1 0 "" NA19240 nsv526374 5 145878088 145888784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702670 S 2026 0 1 "" dgv355n21 5 145905547 145906182 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527356,nsv518520 M 2026 0 2 "" nsv521909 5 145909795 145915081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694680 S 2026 0 1 "" nsv517289 5 145912617 145915081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693155,nssv676619,nssv654213,nssv674497,nssv658545 M 2026 0 5 "" nsv5052 5 145918919 145952536 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2711 S 9 1 0 PPP2R2B NA18555 esv267885 5 145946577 145946662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514263 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 dgv356n21 5 146014684 146030969 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520218,nsv520071 M 2026 0 4 PPP2R2B nsv528827 5 146028570 146030969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705501 S 2026 0 1 PPP2R2B esv269142 5 146079515 146079627 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500222,essv2504997,essv2512537,essv2511803,essv2494234,essv2504055,essv2496456,essv2493722,essv2508933,essv2493977,essv2509306,essv2501357,essv2504875,essv2506613,essv2498943,essv2498764 M 157 16 0 Samples from several populations that are part of the HapMap project. PPP2R2B NA12006,NA12828,NA18489,NA18499,NA18502,NA18505,NA18510,NA18517,NA18522,NA18871,NA18909,NA19093,NA19099,NA19108,NA19114,NA19138 nsv519847 5 146146571 146792840 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682182,nssv680249,nssv659056,nssv700824,nssv682031,nssv674221 M 2026 3 3 DPYSL3,PPP2R2B,STK32A esv26695 5 146266461 146268900 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12990,esv14063,esv12190 M 451 0 10 PPP2R2B NA07045,NA12489,NA18505,NA18508,NA18907,NA18916,NA19108,NA19129,NA19190,NA19225 esv270986 5 146349777 146350122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514174,essv2518772,essv2515369,essv2518454,essv2515125,essv2515752,essv2517895,essv2514486,essv2519008,essv2519468 M 157 10 0 Samples from several populations that are part of the HapMap project. PPP2R2B NA07346,NA12043,NA12045,NA12249,NA12287,NA12812,NA12815,NA12872,NA12874,NA19141 esv1159529 5 146349819 146349819 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356688 S 2 1 0 PPP2R2B HuRef esv2053966 5 146360167 146360653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619725 S 1 0 1 PPP2R2B NA18507 nsv328338 5 146360375 146360449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346916 M 24 PPP2R2B nsv5053 5 146366325 146392739 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2549 S 9 0 1 PPP2R2B NA18555 nsv823286 5 146374775 146376527 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435095,nssv1426558,nssv1440029,nssv1429059,nssv1432753,nssv1425776,nssv1424987,nssv1422612 M 31 0 8 PPP2R2B AK12,AK2,AK4,NA18547,NA18552,NA18592,NA18942,NA18947 nsv499741 5 146374904 146377496 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585968 S 9 0 1 PPP2R2B nsv514327 5 146374976 146376384 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627774 S 1414 0 1 PPP2R2B esv2422173 5 146375339 146377451 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066160,essv5121729,essv5147666,essv5051199,essv5006048,essv5104554,essv5086907,essv5024847,essv5142220,essv5108677,essv5139153,essv5136128,essv5132711,essv5141292,essv5026535,essv5045839,essv5141175,essv5005033,essv5148193,essv5005345,essv5116175,essv5055024,essv5044660,essv5079320,essv5015035,essv5059369,essv5101052,essv5143385,essv5050352,essv5086595,essv5126055,essv5154105,essv5135672,essv5010026,essv5025486,essv5034257,essv5126986,essv5089015,essv5123549,essv5021285,essv5124970,essv5129188,essv5152394,essv5032090,essv5142152,essv5074066,essv5078054,essv5027171,essv5018253,essv5025522,essv5130146,essv5100227,essv5032165,essv5100487,essv5051863,essv5061634,essv5031430,essv5149793,essv5053994,essv5004560,essv5019364,essv5017549,essv5122783,essv5076092,essv5058672,essv5072656,essv5010524,essv5002843,essv5131642,essv5044707,essv5119682,essv5022498,essv5038283,essv5079665,essv5150468,essv5062154,essv5020498,essv5071300,essv5128590,essv5149219,essv5013852,essv5013804,essv5091060,essv5055445,essv5009403,essv5073430,essv5130326,essv5065412,essv5073810,essv5118166,essv5011780,essv5105001,essv5093109,essv5106470,essv5158244,essv5031603,essv5149533,essv5130505,essv5102685,essv5089293,essv5149714,essv5102594,essv5088749,essv5074812,essv5122033,essv5141927,essv5124364,essv5099180,essv5088711 M 1184 0 109 PPP2R2B NA17965,NA17967,NA17970,NA17975,NA17976,NA17977,NA17979,NA17983,NA17987,NA17997,NA18108,NA18109,NA18112,NA18114,NA18117,NA18125,NA18127,NA18134,NA18136,NA18144,NA18146,NA18148,NA18151,NA18154,NA18156,NA18158,NA18162,NA18524,NA18529,NA18532,NA18546,NA18552,NA18555,NA18559,NA18571,NA18572,NA18573,NA18576,NA18592,NA18593,NA18594,NA18595,NA18596,NA18599,NA18603,NA18605,NA18608,NA18612,NA18613,NA18617,NA18618,NA18622,NA18627,NA18632,NA18633,NA18639,NA18640,NA18641,NA18642,NA18647,NA18674,NA18685,NA18694,NA18740,NA18748,NA18757,NA18942,NA18944,NA18945,NA18946,NA18947,NA18953,NA18954,NA18955,NA18959,NA18960,NA18962,NA18965,NA18967,NA18970,NA18971,NA18974,NA18980,NA18991,NA18993,NA18998,NA19000,NA19005,NA19009,NA19010,NA19056,NA19063,NA19064,NA19065,NA19066,NA19068,NA19072,NA19078,NA19079,NA19080,NA19081,NA19083,NA19086,NA19087,NA19723,NA19724,NA19760,NA20300,NA21611 nsv327242 5 146376309 146376309 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345820 M 24 PPP2R2B esv988317 5 146376313 146376313 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584069 S 3 1 0 PPP2R2B HuRef dgv1861e1 5 146410036 146519693 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1323,essv3685 M 271 0 0 PPP2R2B NA18943 esv1973785 5 146480464 146480882 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928511 S 1 0 1 "" NA18507 esv1521243 5 146482030 146482102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613424 S 2 0 1 "" HuRef nsv883014 5 146537745 146595453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598435 S 6533 0 1 STK32A IS40902 nsv819857 5 146599954 146603341 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419533 S 2 1 0 STK32A AK1 dgv975n67 5 146602707 146603311 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823288,nsv823289,nsv823290 M 31 18 0 STK32A AK12,AK14,AK16,AK18,AK2,AK6,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18582,NA18947,NA18968,NA18972,NA18999 nsv820475 5 146602707 146603311 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420545 S 1 0 1 STK32A NA10851 esv269401 5 146617887 146617972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514154,essv2517998,essv2517846,essv2513932 M 157 4 0 Samples from several populations that are part of the HapMap project. STK32A NA12043,NA12872,NA12878,NA19143 esv273376 5 146617887 146617972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581328 S 7 1 0 Samples from several populations that are part of the HapMap project. STK32A NA12878 esv1301490 5 146619915 146619986 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843972 S 2 0 1 STK32A HuRef nsv5055 5 146792865 146837617 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8164 S 9 0 1 DPYSL3 NA12156 esv27495 5 146821753 146824121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11843 S 451 0 2 DPYSL3 NA18858,NA19257 esv992285 5 146824002 146834996 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563887 S 3 0 1 DPYSL3 HuRef esv1978895 5 146920947 146921384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874335 S 1 0 1 LOC153469 NA18507 nsv5056 5 147057528 147091825 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2712 S 9 1 0 JAKMIP2 NA18555 esv2454562 5 147124075 147125003 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322685 S 1 1 0 JAKMIP2 NA18507 esv270753 5 147243572 147243657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517131 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv329560 5 147249519 147258903 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348138 M 24 C5orf46 nsv520730 5 147265906 147266247 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697579 S 2026 1 0 C5orf46 dgv357n21 5 147278690 147283134 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528013,nsv525042 M 2026 0 2 "" nsv523147 5 147282407 147289661 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698855 S 2026 1 0 "" nsv5057 5 147294697 147337502 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4868,nssv4867 M 9 1 0 "" NA19129 esv25010 5 147300483 147318189 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16820 S 451 2 0 "" NA18861,NA19129 nsv441968 5 147307539 147318106 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514328 5 147309456 147317920 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627775 S 1414 1 0 "" nsv818388 5 147314138 147317357 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418458,nssv1418460 M 112 2 0 "" NA19193,NA19194 esv269476 5 147331731 147331925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507718,essv2512960,essv2494518,essv2497235,essv2499858,essv2507845,essv2506343,essv2511261,essv2508197,essv2499300,essv2501542,essv2504916,essv2503124,essv2511074,essv2497881,essv2503475,essv2502378,essv2505434,essv2503741,essv2495983,essv2502749,essv2495820 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA12751,NA18547,NA18550,NA18552,NA18562,NA18564,NA18566,NA18570,NA18579,NA18605,NA18608,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18952,NA18960,NA18961,NA18965 nsv883015 5 147384474 147731228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520106 S 6533 0 1 SPINK13,SPINK14,SPINK5,SPINK6,SPINK7,SPINK9 SP50692 dgv976n67 5 147385561 147386258 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823292,nsv823291 M 31 0 3 "" AK12,AK16,NA18969 nsv830515 5 147441045 147582440 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445106,nssv1445108 M 95 1 1 SPINK14,SPINK5,SPINK6 esv2569672 5 147441101 147443014 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245897 S 1 0 1 SPINK5 NA18507 esv1953564 5 147442185 147442858 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901323 S 1 0 1 SPINK5 NA18507 esv3555 5 147442279 147442724 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25996 S 1 0 1 Single Asian sample YH SPINK5 YH esv8009 5 147442326 147442670 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30450 S 1 0 1 SPINK5 SJK nsv328025 5 147442349 147442664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346603 M 24 SPINK5 nsv327946 5 147483212 147483277 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346524 M 24 SPINK5 esv2602125 5 147532117 147536250 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306657 S 1 0 1 SPINK14 NA18507 esv2505853 5 147532944 147535630 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173026 S 1 0 1 SPINK14 NA18507 nsv823293 5 147533200 147534195 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432060,nssv1437451,nssv1422614 M 31 0 3 SPINK14 AK20,NA18552,NA18949 nsv823294 5 147533200 147534362 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426252,nssv1426678,nssv1440040,nssv1435096,nssv1435873,nssv1439681,nssv1426582,nssv1424224,nssv1428292,nssv1429064,nssv1434438 M 31 7 4 SPINK14 AK10,AK12,AK6,NA18537,NA18547,NA18566,NA18570,NA18582,NA18942,NA18947,NA18968 nsv823295 5 147533200 147535465 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425777,nssv1436636,nssv1438159,nssv1423415,nssv1429820,nssv1440363,nssv1430595,nssv1438844,nssv1432764,nssv1424989,nssv1431326,nssv1427505,nssv1433661 M 31 0 13 SPINK14 AK14,AK16,AK18,AK2,AK4,AK8,NA18526,NA18542,NA18564,NA18592,NA18951,NA18973,NA18999 nsv819370 5 147533214 147535142 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419361 S 2 1 0 SPINK14 AK1 esv6569 5 147533235 147534546 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29010 S 1 0 0 SPINK14 SJK esv21549 5 147533287 147535392 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13850,esv19899 M 451 10 13 SPINK14 NA06985,NA11894,NA11995,NA12004,NA12006,NA12044,NA12287,NA12489,NA12749,NA12776,NA12878,NA18508,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19240,NA19257 nsv820675 5 147533287 147535465 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420546 S 1 0 1 SPINK14 NA10851 esv2618615 5 147533908 147535132 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272712 S 1 0 0 SPINK14 NA18507 esv5789 5 147534639 147534984 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28230 S 1 0 0 SPINK14 SJK nsv328735 5 147537449 147537449 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347313 M 24 "" esv1643002 5 147569769 147569769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033045 S 2 1 0 SPINK6 HuRef dgv6358n71 5 147620911 147671663 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883019,nsv883016,nsv883018,nsv883017,nsv883020 M 6533 6 0 SPINK13 MS15242,SP52470,SP55424,SP55537,SP55868,SP57322 dgv726n27 5 147628703 147669893 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462479,nsv462480 M 1557 2 0 SPINK13 HGDP01095,HGDP01309 nsv5058 5 147673358 147706111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3394 S 9 1 0 SPINK7,SPINK9 NA12878 esv24060 5 147681215 147686256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11115 S 451 0 1 "" NA12239 esv26939 5 147722724 147730146 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16005 S 451 0 1 "" NA18861 nsv830516 5 147781297 147946286 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445109 S 95 0 1 FBXO38,HTR4 nsv523792 5 147870317 147876501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699620 S 2026 0 1 HTR4 esv270273 5 147903813 147904108 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500356,essv2511366,essv2500098,essv2508185,essv2512931,essv2497907,essv2500583,essv2495113,essv2502716,essv2500742,essv2512766 M 157 11 0 Samples from several populations that are part of the HapMap project. HTR4 NA18537,NA18570,NA18573,NA18579,NA18609,NA18945,NA18956,NA18964,NA18965,NA18973,NA18980 nsv328933 5 147907334 147914171 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347511 M 24 HTR4 nsv883021 5 148041010 148162316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541791 S 6533 0 1 "" MS15491 esv270824 5 148060239 148060345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496696,essv2493748,essv2509122,essv2508628,essv2507485,essv2507410,essv2497384,essv2506476,essv2509606,essv2496960 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA18517,NA18522,NA18592,NA18638,NA18912,NA18959,NA19108,NA19129,NA19190 esv270793 5 148076937 148077283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519163,essv2516983,essv2515454,essv2515626,essv2516113 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12249,NA12815,NA12873 esv1459942 5 148076973 148076973 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018818 S 2 1 0 "" HuRef nsv462481 5 148110331 148152882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538635 S 1557 0 1 "" NINDS_196 nsv883022 5 148180746 148185565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518135 S 6533 0 1 "" SP57469 nsv508383 5 148243930 148346923 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622535 S 4 0 1 SH3TC2 NA18994 nsv520887 5 148247599 148262123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697671 S 2026 0 1 "" nsv830517 5 148313415 148531334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445110 S 95 1 0 ABLIM3,SH3TC2 nsv819535 5 148353174 148353405 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419359 S 2 1 0 SH3TC2 AK1 esv4129 5 148365979 148366211 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26570 S 1 0 1 Single Asian sample YH SH3TC2 YH nsv329604 5 148366035 148366133 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348182 M 24 SH3TC2 esv1942686 5 148381428 148381980 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572410 S 1 0 1 SH3TC2 NA18507 esv4454 5 148381566 148381863 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26895 S 1 0 1 Single Asian sample YH SH3TC2 YH nsv517567 5 148540080 148552843 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652385,nssv687076,nssv690525 M 2026 3 0 ABLIM3 esv2159994 5 148551172 148551600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724562 S 1 0 1 ABLIM3 NA18507 esv2599932 5 148551283 148552727 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207847 S 1 0 1 ABLIM3 NA18507 esv2479942 5 148551353 148551440 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237723 S 1 0 1 ABLIM3 NA18507 nsv329799 5 148551353 148551440 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348377 M 24 ABLIM3 esv2319677 5 148552394 148552826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920395 S 1 0 1 ABLIM3 NA18507 esv1941617 5 148557593 148558011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830067 S 1 0 1 ABLIM3 NA18507 esv1009293 5 148557746 148557808 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578198 S 3 0 1 ABLIM3 HuRef nsv328915 5 148557747 148557809 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347493 M 24 ABLIM3 esv1067040 5 148557810 148557810 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637264 S 2 1 0 ABLIM3 HuRef esv1591742 5 148557810 148557873 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068386 S 2 0 1 ABLIM3 HuRef nsv883023 5 148730146 148742932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509828 S 6533 0 1 IL17B SP54956 nsv521406 5 148765642 148783004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698016 S 2026 0 1 MIR143HG nsv528923 5 148767855 148773386 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705613 S 2026 0 1 MIR143HG nsv519878 5 148767855 148778925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697101 S 2026 0 1 MIR143HG nsv516607 5 148772954 148778925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703724,nssv669518,nssv685882,nssv698712 M 2026 0 4 MIR143HG esv24490 5 148800318 148955447 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15826 S 451 1 0 ARHGEF37,CSNK1A1 NA18907 nsv516848 5 148850293 148882531 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675709,nssv680174,nssv654412,nssv692456 M 2026 4 0 CSNK1A1 nsv518039 5 148850293 148919428 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695450 S 2026 1 0 CSNK1A1 nsv5059 5 148890826 148923609 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv503 S 9 1 0 CSNK1A1 NA19240 esv2585670 5 148897229 148898203 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216173 S 1 1 0 CSNK1A1 NA18507 nsv516760 5 148958298 148988714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678440,nssv661158,nssv671065,nssv674646,nssv687641,nssv685211,nssv670659,nssv658391 M 2026 0 8 ARHGEF37 esv28001 5 148991301 148993211 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20479 S 451 0 1 ARHGEF37 NA19129 esv27716 5 149001390 149080828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13949 S 451 0 1 "" NA18511 esv1094606 5 149010532 149010532 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635299 S 2 1 0 "" HuRef esv1365496 5 149011121 149011121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911835 S 2 1 0 "" HuRef nsv5060 5 149053246 149099049 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6030 S 9 0 1 PPARGC1B NA12156 esv32926 5 149105548 149107327 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96028 S 51 1 0 PPARGC1B 22127 nsv5061 5 149114147 149146148 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6031 S 9 1 0 PPARGC1B NA12156 esv1706104 5 149168939 149168988 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594958 S 2 0 1 PPARGC1B HuRef nsv462482 5 149176522 149192703 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538636 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPARGC1B HGDP00832 nsv462484 5 149185823 149212718 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538637 S 1557 0 1 PPARGC1B NINDS_51 nsv883024 5 149202185 149256317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591499,nssv1588557 M 6533 2 0 PDE6A,PPARGC1B IS38216,IS38849 dgv727n27 5 149210923 149241005 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462486,nsv462485 M 1557 2 0 PDE6A,PPARGC1B HGDP00155,HGDP00161 esv24664 5 149213896 149409840 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11961 S 451 1 1 HMGXB3,PDE6A,PPARGC1B,SLC26A2,TIGD6 NA18511,NA18907 esv273743 5 149278870 149278955 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581043 S 7 1 0 Samples from several populations that are part of the HapMap project. PDE6A hapmap_pooled_sample_set nsv830518 5 149300567 149476896 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445111 S 95 0 1 CSF1R,HMGXB3,PDE6A,PDGFRB,SLC26A2,TIGD6 nsv528113 5 149420837 149424340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704655 S 2026 0 1 CSF1R nsv528188 5 149420837 149430325 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704744 S 2026 1 0 CSF1R esv2504567 5 149421144 149422659 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325404 S 1 0 1 CSF1R NA18507 esv2355903 5 149421738 149422549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945724 S 1 0 1 CSF1R NA18507 esv22778 5 149431060 149472163 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20261,esv15312 M 451 2 3 CSF1R NA07037,NA12489,NA12878,NA18511,NA18907 nsv523125 5 149463954 149465965 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698827 S 2026 0 1 CSF1R dgv6359n71 5 149469303 149493819 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883026,nsv883025 M 6533 0 2 CSF1R,PDGFRB IS38403,MS17208 nsv883027 5 149469303 149558112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543447 S 6533 0 1 CDX1,CSF1R,PDGFRB,SLC6A7 MS16153 nsv883028 5 149472648 149524238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537073,nssv1549676 M 6533 0 2 CSF1R,PDGFRB MS13095,MS18276 nsv5062 5 149477137 149521728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2550 S 9 0 1 PDGFRB NA18555 nsv525243 5 149477370 149477421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701333 S 2026 0 1 PDGFRB nsv883029 5 149479865 149512025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530520 S 6533 0 1 PDGFRB MS10311 nsv329566 5 149502319 149502434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348144 M 24 PDGFRB nsv883030 5 149512300 149608837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546574 S 6533 0 1 CAMK2A,CDX1,PDGFRB,SLC6A7 MS17208 nsv462487 5 149563529 149577148 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538640 S 1557 0 1 SLC6A7 NINDS_78 nsv524540 5 149605280 149607616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700490 S 2026 0 1 CAMK2A nsv525244 5 149646042 149655457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701334 S 2026 0 1 CAMK2A esv2649922 5 149725972 149727618 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196579 S 1 0 1 TCOF1 NA18507 esv2114978 5 149726177 149726809 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660973 S 1 0 1 TCOF1 NA18507 esv5186 5 149726330 149726760 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27627 S 1 0 1 Single Asian sample YH TCOF1 YH esv989812 5 149726388 149726713 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566778 S 3 0 1 TCOF1 HuRef esv6012 5 149726396 149726714 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28453 S 1 0 1 TCOF1 SJK esv1309088 5 149726397 149726723 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141512 S 2 0 1 TCOF1 HuRef dgv1862e1 5 149804786 150265935 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13566,esv383 M 271 0 0 C5orf62,DCTN4,IRGM,MYOZ3,NDST1,RBM22,RPS14,SYNPO,ZNF300 NA19160 nsv462488 5 149837653 149935902 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538641 S 1557 0 1 NDST1 1780862226_A nsv883031 5 149866630 149946386 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546575 S 6533 0 1 NDST1 MS17208 nsv509095 5 149890929 149931730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620837 S 4 1 0 NDST1 NA15510 nsv5063 5 149957992 149977754 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8165 S 9 0 1 SYNPO NA12156 nsv5064 5 149972575 150006117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv504 S 9 1 0 SYNPO NA19240 nsv428129 5 150001274 150265935 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450518,nssv450516,nssv450508,nssv450511,nssv450526,nssv450510,nssv450524,nssv450522,nssv450517,nssv450519,nssv450507,nssv450512,nssv450523,nssv450514,nssv450513,nssv450515,nssv450525,nssv450521 M 62 0 18 C5orf62,DCTN4,IRGM,MYOZ3,RBM22,SYNPO,ZNF300 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00472,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01087,HGDP01088,NA18916,NA19096,NA19108,NA19113,NA19181,NA19189 esv33898 5 150017626 150126218 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100045 S 51 0 1 DCTN4,MYOZ3,RBM22,SYNPO 22086 esv29484 5 150038907 150060192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18569 S 451 0 2 MYOZ3,RBM22 NA07045,NA12004 dgv1863e1 5 150080197 150265935 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10434,essv4708,essv306,essv6758,essv8434,essv2776,essv6300,essv1237,essv1790,essv13730,essv1017,essv16097,essv12542,essv14624,essv15218,essv14873,essv10896,essv9979,essv5188,essv7137,essv9040,essv7008,essv7171,essv8204,essv12823,essv14537,essv4172,essv15074,essv4959,essv10117,essv9406,essv5359,essv15549,essv11149,essv2040,essv9612,essv1826,essv4001,essv17012,essv10379,essv7575,essv8107,essv16732,essv20353,essv8943,essv13639,essv4415,essv859,essv6900,essv16466,essv1590,essv14431,essv4031,essv13130,essv16853,essv6399,essv16516,essv13439,essv7358,essv12514,essv13831,essv10215,essv10543,essv10628,essv17323,essv11436,essv3887,essv2591,essv11552,essv16337,essv5046,essv12392,essv14137,essv14104,essv17040,essv17148,essv1506,essv16204,essv15345,essv9799,essv8743,essv10841,essv9386,essv5740,essv15458,essv21999,essv15413,essv15687,essv15730,essv2330,essv18770,essv3824,essv10726,essv14722,essv3390,essv3703,essv5443,essv8362,essv2445,essv12655,essv2891,essv1956,essv580,essv14321,essv6036,essv11956,essv1135,essv2639,essv4648,essv5237,essv16068 M 271 0 0 C5orf62,DCTN4,IRGM,ZNF300 NA11995,NA12236,NA12874,NA18500,NA18501,NA18502,NA18505,NA18515,NA18516,NA18522,NA18523,NA18537,NA18545,NA18547,NA18555,NA18562,NA18563,NA18570,NA18571,NA18572,NA18573,NA18576,NA18593,NA18594,NA18605,NA18609,NA18611,NA18612,NA18622,NA18624,NA18632,NA18635,NA18637,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18861,NA18862,NA18863,NA18871,NA18912,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18953,NA18959,NA18964,NA18967,NA18970,NA18976,NA18978,NA18980,NA18987,NA18990,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19005,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19102,NA19116,NA19119,NA19120,NA19127,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19141,NA19142,NA19144,NA19152,NA19159,NA19161,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19222,NA19238,NA19240 nsv5066 5 150081709 150126622 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8166 S 9 0 1 DCTN4 NA12156 nsv5067 5 150145350 150213522 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10477,nssv4869,nssv505,nssv9413,nssv2553,nssv2552 M 9 0 5 C5orf62,IRGM NA18517,NA18555,NA18956,NA19129,NA19240 nsv435820 5 150155648 150162467 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466246 S 2 0 1 C5orf62 NA15510 nsv10758 5 150156493 150162053 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13372,nssv14058,nssv13785,nssv14206,nssv12589,nssv15621,nssv15042,nssv14821,nssv13675,nssv14309 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA18502,NA18537,NA18552,NA18564,NA18572,NA18860,NA18942,NA18980,NA19173,NA19240 dgv977n67 5 150157243 150203608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823296,nsv823300 M 31 0 2 "" AK12,NA18542 esv2421997 5 150157290 150198797 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095583,essv5091320,essv5064137,essv5137771,essv5083423,essv5157689,essv5003524,essv5051528,essv5145839,essv5158212,essv5006143,essv5083886,essv5115080,essv5153578,essv5069224,essv5045243,essv5132378,essv5035979,essv5121812,essv5034150,essv5134184,essv5149687,essv5054170,essv5033090,essv5028902,essv5119933,essv5151714,essv5008541,essv5070665,essv5019847,essv5122130,essv5144093,essv5121231,essv5107967,essv5016580,essv5046870,essv5040850,essv5123953,essv5132643,essv5009465,essv5134649,essv5153941,essv5005729,essv5084181,essv5081600,essv5108364,essv5046342,essv5036489,essv5064838,essv5145222,essv5141665,essv5064881,essv5027875,essv5082411,essv5100766,essv5035061,essv5026168,essv5132962,essv5048706,essv5001912,essv5125914,essv5137622,essv5159994,essv5050106,essv5065429,essv5011456,essv5082847,essv5040517,essv5050924,essv5044826,essv5103922,essv5093858,essv5079542,essv5017719,essv5147849,essv5085044,essv5055482,essv5147965,essv5025827,essv5141203,essv5079137,essv5122387,essv5128104,essv5024142,essv5074252,essv5038572,essv5015946,essv5054261,essv5132310,essv5046665,essv5139210,essv5042961,essv5005676,essv5160127,essv5005675,essv5045524,essv5060020,essv5134041,essv5101583,essv5067512,essv5080896,essv5038804,essv5046621,essv5136361,essv5125201,essv5003874,essv5134575,essv5059415,essv5150384,essv5100392,essv5094980,essv5047273,essv5135200,essv5074304,essv5129971,essv5055735,essv5105215,essv5142102,essv5009509,essv5141688,essv5011509,essv5026041,essv5123860,essv5153754,essv5084416,essv5119733,essv5110150,essv5003591,essv5059975,essv5151670,essv5143793,essv5028748,essv5127700,essv5088663,essv5135095,essv5075778,essv5017458,essv5033969,essv5013100,essv5110969,essv5092254,essv5099659,essv5153961,essv5025181,essv5105277,essv5159479,essv5069949,essv5015851,essv5044423,essv5067559,essv5011229,essv5136852,essv5023175,essv5016107,essv5152752,essv5028959,essv5116731,essv5042467,essv5140556,essv5046840,essv5064596,essv5114838,essv5039042,essv5134262,essv5029404,essv5085857,essv5027515,essv5088057,essv5098477,essv5146097,essv5008079,essv5082108,essv5117321,essv5029406,essv5036226,essv5076026,essv5036384,essv5158329,essv5099762,essv5048035,essv5091010,essv5074139,essv5136860,essv5035241,essv5001926,essv5133620,essv5106267,essv5085691,essv5125536,essv5027048,essv5143706,essv5065461,essv5016106,essv5009806,essv5002763,essv5041274,essv5129718,essv5114977,essv5130305,essv5057467,essv5046595,essv5108116,essv5148771,essv5079152,essv5006476,essv5048733,essv5009846,essv5057248,essv5140458,essv5139721,essv5070762,essv5019093,essv5110149,essv5085036,essv5116177,essv5051299,essv5120009,essv5025839,essv5092030,essv5102771,essv5092889,essv5080884,essv5143193,essv5019234,essv5076582,essv5091388,essv5026952,essv5013359,essv5103622,essv5137151,essv5061090,essv5147417,essv5062675,essv5005012,essv5062341,essv5120243,essv5096196,essv5132754,essv5009805,essv5077946,essv5044198,essv5060246,essv5034140,essv5129304,essv5159208,essv5098875,essv5105819,essv5037263,essv5041467,essv5115162,essv5119354,essv5019839,essv5046789,essv5023133,essv5037210,essv5041725,essv5064893,essv5125921,essv5131546,essv5065353,essv5107105,essv5065047,essv5105060,essv5149065,essv5138754,essv5003112,essv5032472,essv5023499,essv5033429,essv5032474,essv5139248,essv5024508,essv5081924,essv5022873,essv5128957,essv5063433,essv5050163,essv5124552,essv5111187,essv5041107,essv5082088,essv5055173,essv5152648,essv5143609,essv5140808,essv5120541,essv5048862,essv5056780,essv5139400,essv5139921,essv5142275,essv5119509,essv5045738,essv5050412,essv5115663,essv5042160,essv5131447,essv5058517,essv5136238,essv5094617,essv5051002,essv5131783,essv5143580,essv5075083,essv5066174,essv5092676,essv5068371,essv5074360,essv5038919,essv5117479,essv5129208,essv5007040,essv5124385,essv5138353,essv5155790,essv5002116,essv5128990,essv5054037,essv5041296,essv5054065,essv5084238,essv5095965,essv5125243,essv5057516,essv5013418,essv5036395,essv5023617,essv5159241,essv5104998,essv5008422,essv5153443,essv5072122,essv5049119,essv5076953,essv5078654,essv5107944,essv5149599,essv5115980,essv5060041,essv5153566,essv5095230,essv5003273,essv5049576,essv5017127,essv5015263,essv5116331,essv5085905,essv5060681,essv5101806,essv5113406,essv5138106,essv5082675,essv5095600,essv5012948,essv5002275,essv5095142,essv5157430,essv5145866,essv5037570,essv5076767,essv5010237,essv5074594,essv5010457,essv5092265,essv5123266,essv5022804,essv5084965,essv5082811,essv5037707,essv5041075,essv5108611,essv5146575,essv5010543,essv5073979,essv5120270,essv5045088,essv5056402,essv5049947,essv5101529,essv5003252,essv5147068,essv5126485,essv5063402,essv5088051,essv5061940,essv5027034,essv5045465,essv5121901,essv5056584,essv5013152,essv5101164,essv5023742,essv5009923,essv5072234,essv5122152,essv5013374,essv5017492,essv5057379,essv5132829,essv5002750,essv5038721,essv5132559,essv5147757,essv5088396,essv5033015,essv5037834,essv5087169,essv5059306,essv5105241,essv5097920,essv5071607,essv5038396,essv5095141,essv5138632,essv5089423,essv5058234,essv5135877,essv5098789,essv5159031,essv5092440,essv5067627,essv5114226,essv5134576,essv5015741,essv5119481,essv5149615,essv5036153,essv5079728,essv5127744,essv5041161,essv5061801,essv5003124,essv5119420,essv5126829,essv5110757,essv5105092,essv5097331,essv5091968,essv5021011,essv5071093,essv5015260,essv5018202,essv5086500,essv5051711,essv5083274,essv5120818,essv5049013,essv5085080,essv5083997,essv5102354,essv5117895,essv5059298,essv5095900,essv5045518,essv5083853,essv5110208,essv5017247,essv5122225,essv5050856,essv5038345,essv5080210,essv5011165,essv5044576,essv5159933,essv5073654,essv5027686,essv5158761,essv5071308,essv5123280,essv5155492,essv5020676,essv5074059,essv5022147,essv5007965,essv5130310,essv5012037,essv5004647,essv5052603,essv5015488,essv5065623,essv5045419,essv5026891,essv5148605,essv5103464,essv5110360,essv5070204,essv5020160,essv5034104,essv5071506,essv5028049,essv5111516,essv5055229,essv5037935,essv5143842,essv5003511,essv5062799,essv5118689,essv5008914,essv5140032,essv5145665,essv5135119,essv5109245,essv5110335,essv5042234,essv5006171,essv5017840,essv5100408,essv5099436,essv5012697,essv5114172,essv5074729,essv5076162,essv5111204,essv5140823,essv5020939,essv5147125,essv5037227,essv5084297,essv5048752,essv5105817,essv5041200,essv5139264,essv5044558,essv5155546,essv5077848,essv5105732,essv5009275,essv5082603,essv5126835,essv5005473,essv5058290,essv5153313,essv5067939,essv5145214,essv5028886,essv5061132,essv5106709,essv5043293,essv5025350,essv5146567,essv5127157,essv5088911,essv5158097,essv5040676,essv5038702,essv5127518,essv5065896,essv5014856,essv5024265,essv5086150,essv5133051,essv5144957,essv5110605,essv5079551,essv5069543,essv5155146,essv5131181,essv5033570,essv5085591,essv5095823,essv5158851,essv5057951,essv5113945,essv5144772,essv5157950,essv5134389,essv5153298,essv5080502,essv5065591,essv5041747,essv5126625,essv5113546,essv5132598,essv5158433,essv5075267,essv5134024,essv5020925,essv5111163,essv5103489,essv5038346,essv5090966,essv5051176,essv5094004,essv5134277,essv5042847,essv5152818,essv5020810 M 1184 0 587 "" NA06986,NA07347,NA07349,NA11995,NA12275,NA12287,NA12335,NA12341,NA12342,NA12413,NA12708,NA12718,NA12818,NA12830,NA12874,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17975,NA17977,NA17979,NA17980,NA17983,NA17987,NA17988,NA17989,NA17990,NA17995,NA17996,NA17997,NA17998,NA18101,NA18102,NA18105,NA18107,NA18108,NA18109,NA18112,NA18114,NA18118,NA18120,NA18122,NA18124,NA18127,NA18128,NA18129,NA18131,NA18132,NA18134,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18159,NA18161,NA18162,NA18484,NA18485,NA18486,NA18487,NA18489,NA18497,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18534,NA18537,NA18542,NA18543,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18593,NA18594,NA18595,NA18596,NA18597,NA18602,NA18605,NA18609,NA18610,NA18611,NA18612,NA18613,NA18615,NA18617,NA18618,NA18619,NA18622,NA18623,NA18626,NA18630,NA18631,NA18632,NA18635,NA18637,NA18638,NA18640,NA18641,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18748,NA18749,NA18853,NA18854,NA18855,NA18857,NA18858,NA18860,NA18861,NA18862,NA18863,NA18867,NA18869,NA18871,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18916,NA18917,NA18923,NA18924,NA18934,NA18935,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18962,NA18964,NA18967,NA18970,NA18973,NA18976,NA18977,NA18978,NA18980,NA18987,NA18990,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19005,NA19009,NA19010,NA19027,NA19031,NA19036,NA19038,NA19044,NA19046,NA19054,NA19058,NA19063,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19080,NA19081,NA19083,NA19085,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19102,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19119,NA19120,NA19121,NA19127,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19152,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19222,NA19224,NA19226,NA19235,NA19236,NA19237,NA19238,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19310,NA19313,NA19315,NA19316,NA19318,NA19321,NA19324,NA19327,NA19328,NA19346,NA19350,NA19360,NA19371,NA19374,NA19377,NA19380,NA19381,NA19382,NA19383,NA19385,NA19391,NA19394,NA19397,NA19399,NA19403,NA19428,NA19429,NA19431,NA19434,NA19435,NA19439,NA19443,NA19444,NA19449,NA19451,NA19457,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19473,NA19625,NA19650,NA19654,NA19663,NA19665,NA19679,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19711,NA19712,NA19713,NA19719,NA19722,NA19724,NA19746,NA19747,NA19748,NA19755,NA19759,NA19762,NA19763,NA19771,NA19772,NA19782,NA19783,NA19784,NA19818,NA19828,NA19835,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20282,NA20284,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20301,NA20302,NA20317,NA20319,NA20332,NA20334,NA20337,NA20341,NA20343,NA20346,NA20347,NA20348,NA20350,NA20356,NA20359,NA20360,NA20510,NA20516,NA20525,NA20528,NA20529,NA20531,NA20535,NA20538,NA20543,NA20581,NA20586,NA20588,NA20755,NA20757,NA20768,NA20769,NA20774,NA20785,NA20804,NA20805,NA20815,NA20826,NA20846,NA20852,NA20856,NA20862,NA20877,NA20881,NA20883,NA20887,NA20894,NA20897,NA20902,NA20903,NA20909,NA20910,NA21086,NA21089,NA21101,NA21102,NA21105,NA21112,NA21115,NA21118,NA21137,NA21141,NA21142,NA21295,NA21297,NA21300,NA21307,NA21309,NA21313,NA21344,NA21352,NA21353,NA21356,NA21360,NA21361,NA21362,NA21363,NA21367,NA21370,NA21378,NA21379,NA21382,NA21383,NA21384,NA21386,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21414,NA21415,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21435,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21453,NA21455,NA21457,NA21473,NA21476,NA21477,NA21479,NA21485,NA21487,NA21493,NA21494,NA21510,NA21512,NA21514,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21575,NA21577,NA21580,NA21597,NA21599,NA21601,NA21608,NA21615,NA21617,NA21631,NA21632,NA21634,NA21650,NA21682,NA21689,NA21716,NA21719,NA21723,NA21740,NA21741,NA21776,NA21784,NA21825 esv3561 5 150157818 150161878 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26002 S 1 0 1 Single Asian sample YH "" YH dgv978n67 5 150157825 150161798 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823302,nsv823297,nsv823301,nsv823303,nsv823304,nsv823299 M 31 0 18 "" AK12,AK14,AK18,AK4,AK6,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18942,NA18947,NA18949,NA18973,NA18997,NA18999 esv27570 5 150157836 150161778 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15692 S 451 0 8 "" NA11995,NA12287,NA15510,NA18502,NA18858,NA19114,NA19129,NA19240 nsv499289 5 150157848 150161794 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585969 S 9 0 1 "" nsv514329 5 150158016 150161648 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627776 S 1414 0 1 "" nsv819027 5 150176306 150203178 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418707 S 2 0 1 "" AK1 nsv10759 5 150181427 150204688 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15072,nssv14339,nssv13402,nssv15132,nssv15687,nssv15854,nssv14008,nssv12619,nssv12649,nssv13790,nssv15463,nssv13705,nssv14118,nssv13547,nssv14851,nssv14236,nssv15651,nssv13815 M 31 0 16 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18980,NA19132,NA19144,NA19173,NA19240 dgv106n16 5 150182049 150204506 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436484,nsv435822 M 2 0 2 "" NA15510,NA18505 nsv499290 5 150183356 150203457 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585970 S 9 0 1 "" esv23083 5 150183562 150203623 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16535,esv10047 M 451 0 21 "" NA11995,NA12287,NA12489,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 dgv979n67 5 150184990 150203608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823308,nsv823306,nsv823307,nsv823305 M 31 0 12 "" AK14,AK18,AK4,AK6,NA18537,NA18547,NA18552,NA18566,NA18570,NA18947,NA18949,NA18973 esv33282 5 150185219 150201174 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101570,essv101184,essv93852,essv96769,essv101094,essv95233,essv98324,essv94757,essv101359,essv97073,essv97820,essv93077,essv95273,essv97328,essv101710,essv95771,essv94611,essv92870,essv92815,essv96186,essv96584,essv100093,essv96027,essv93547,essv93223,essv99692,essv92513,essv99178,essv100158,essv100568,essv100425,essv99536,essv96376,essv94242 M 51 33 1 "" 21603,21618,21634,21659,21693,21721,21772,21791,21805,21817,21837,21863,21872,21879,21909,21911,21932,21939,21944,22007,22011,22086,22127,22128,22170,22217,22233,22275,22286,22298,22300,22335,22371,22394 nsv442963 5 150185693 150198797 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv980n67 5 150191122 150203608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823311,nsv823310,nsv823312 M 31 0 4 "" NA18564,NA18942,NA18997,NA18999 nsv514330 5 150191328 150203088 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627777 S 1414 0 1 "" nsv433477 5 150193165 150194892 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463358 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18555 nsv883032 5 150194096 150257304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568439 S 6533 0 1 IRGM,ZNF300 IS31285 nsv823313 5 150203093 150203608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437455 S 31 0 1 "" NA18949 esv32978 5 150224038 150224268 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96796 S 51 0 1 "" 21659 nsv482091 5 150254157 150264584 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558452 S 1 0 1 ZNF300 KB1 nsv10760 5 150257795 150264114 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16260 S 31 0 1 Samples from several populations that are part of the HapMap project. ZNF300 NA19221 nsv526742 5 150291815 150311793 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703085 S 2026 1 0 ZNF300P1 esv275105 5 150318146 150331183 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585260,essv2585459 M 1250 1 1 "" nsv509997 5 150318303 150324303 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622102,nssv618218 M 4 0 2 "" CHM,NA10860 esv2498124 5 150337439 150338494 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372779 S 1 1 0 "" NA18507 esv268763 5 150338032 150338340 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496197,essv2494757,essv2513340,essv2509428,essv2498751,essv2493879,essv2501944,essv2498034 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18519,NA18907,NA19129,NA19138,NA19210,NA19239,NA19240 esv274549 5 150338043 150338367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584719,essv2583494 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv526224 5 150363596 150430429 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702490 S 2026 1 0 GPX3,TNIP1 nsv462489 5 150408388 150419181 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538642 S 1557 0 1 TNIP1 1780854097_A nsv330025 5 150453135 150457373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348603 M 24 "" nsv329096 5 150586038 150587063 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347674 M 24 "" nsv527485 5 150625831 150627349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703932 S 2026 0 1 GM2A esv6641 5 150658053 150659051 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29082 S 1 0 1 SLC36A3 SJK dgv981n67 5 150769199 150772928 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823315,nsv823314 M 31 0 2 "" NA18570,NA18947 nsv819196 5 150769217 150773613 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419634 S 2 0 1 "" AK1 esv23145 5 150769996 150772876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13398 S 451 0 11 "" NA07045,NA11931,NA12004,NA12239,NA12414,NA12776,NA18916,NA19108,NA19147,NA19190,NA19225 dgv982n67 5 150770054 150772928 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823317,nsv823319,nsv823316,nsv823321,nsv823318 M 31 0 19 "" AK10,AK12,AK16,AK4,AK6,NA18526,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18949,NA18951,NA18969,NA18973,NA18997,NA18999 nsv883033 5 150775529 150900301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524620 S 6533 1 0 FAT2,SLC36A1 SP55126 nsv823322 5 150827530 150828351 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421725 S 31 1 0 SLC36A1 NA18997 nsv527096 5 150858370 150885591 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703475 S 2026 0 1 FAT2 esv23996 5 150860656 150863376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20984 S 451 0 7 "" NA18502,NA18505,NA18523,NA18907,NA18909,NA18916,NA19225 esv24295 5 150921898 150935536 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20633,esv18629 M 451 12 0 FAT2 NA11894,NA12004,NA12287,NA12414,NA12828,NA12878,NA15510,NA18505,NA18523,NA18916,NA19099,NA19108 nsv5068 5 150948425 150959747 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8167 S 9 0 1 "" NA12156 dgv6360n71 5 150954102 151029597 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883036,nsv883037,nsv883034 M 6533 0 4 SPARC IS40890,MS19941,MS20286,MS21258 nsv883035 5 150958919 151009332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530106,nssv1531405 M 6533 0 2 "" MS10203,MS10441 nsv883038 5 150982994 151025254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554081 S 6533 0 1 SPARC MS20612 nsv5069 5 151038594 151071658 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8168 S 9 1 0 SPARC NA12156 nsv509998 5 151074133 151080133 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622103,nssv623987 M 4 0 2 "" NA10860,NA18994 esv268966 5 151099813 151100152 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506072,essv2498629 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18858 nsv5070 5 151132755 151142251 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv506 S 9 1 0 G3BP1 NA19240 esv272455 5 151137650 151137735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581195 S 7 1 0 Samples from several populations that are part of the HapMap project. G3BP1 NA19240 esv28315 5 151229543 151233114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11199 S 451 0 11 GLRA1 NA12489,NA18502,NA18511,NA18517,NA18523,NA18858,NA18861,NA18909,NA19108,NA19129,NA19225 esv272818 5 151231983 151232324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581060 S 7 1 0 Samples from several populations that are part of the HapMap project. GLRA1 NA19240 nsv509999 5 151306714 151312714 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618219 S 4 0 1 "" CHM esv271830 5 151312753 151313098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496760,essv2494311,essv2498517,essv2494095,essv2506875,essv2506732 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18858,NA18871,NA19102,NA19108 nsv526375 5 151404007 151418410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702671 S 2026 0 1 "" nsv5071 5 151418523 151452206 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9885,nssv10478,nssv2554,nssv507,nssv6032,nssv4870 M 9 0 6 "" NA12156,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508384 5 151418775 151467519 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618780,nssv617514,nssv619963,nssv622536 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1004413 5 151434366 151443084 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564304 S 3 0 1 "" HuRef dgv107n16 5 151435895 151442811 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436455,nsv435816 M 2 0 2 "" NA15510,NA18505 esv2444052 5 151436112 151443414 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374024 S 1 0 1 "" NA18507 esv2200641 5 151436408 151442845 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858452 S 1 0 1 "" NA18507 nsv513268 5 151436436 151442769 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626775 S 1 0 1 "" 1 esv4057 5 151436560 151442814 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26498 S 1 0 1 Single Asian sample YH "" YH nsv329012 5 151436607 151442640 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347590 M 24 "" esv999116 5 151436615 151442648 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578782 S 3 0 1 "" HuRef esv1224644 5 151436623 151442657 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012954 S 2 0 1 "" HuRef esv7890 5 151436625 151442632 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30331 S 1 0 1 "" SJK nsv883039 5 151451835 151521081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539899 S 6533 1 0 "" MS14566 nsv883040 5 151451835 151576466 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538051,nssv1536797 M 6533 2 0 "" MS12964,MS13467 esv4594 5 151456402 151456643 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27035 S 1 0 1 Single Asian sample YH "" YH nsv328639 5 151456437 151456567 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347217 M 24 "" nsv5072 5 151470464 151510612 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6033 S 9 0 1 "" NA12156 nsv883041 5 151488992 151503071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537033,nssv1501820,nssv1548341,nssv1546262 M 6533 0 4 "" MS13093,MS17120,MS17808,SP50916 nsv436988 5 151493576 151503057 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466869 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10838 dgv6361n71 5 151493576 151504403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883042,nsv883044,nsv883043 M 6533 0 16 "" IS39860,MS16708,SP50017,SP50081,SP50711,SP50915,SP51439,SP52904,SP53969,SP54042,SP54559,SP54808,SP55219,SP55514,SP55795,SP57341 nsv462490 5 151493576 151508024 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538643 S 1557 0 1 "" 1780854205_A dgv6362n71 5 151494364 151521081 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883046,nsv883047,nsv883045 M 6533 0 4 "" IS36882,IS41933,MS20195,MS21868 nsv511280 5 151494677 151503071 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625010 S 1 0 1 "" 1 dgv983n67 5 151494849 151498858 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823323,nsv823324 M 31 0 2 "" AK8,NA18947 esv22142 5 151494881 151499031 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9805 S 451 0 4 "" NA11931,NA12156,NA12414,NA12776 nsv10762 5 151494886 151499562 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12821,nssv13837,nssv14038 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA11830,NA12872,NA19144 nsv513269 5 151494957 151499181 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626777 S 1 0 1 "" 1 nsv818390 5 151495149 151496845 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417026 S 112 0 1 "" NA06994 esv2421864 5 151495149 151499003 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142862,essv5003307,essv5154708,essv5022154,essv5037261,essv5051066,essv5012874,essv5056242,essv5150515,essv5028898,essv5013313,essv5103555,essv5136641,essv5032976,essv5015909,essv5003948,essv5104908,essv5116427,essv5021225,essv5082122,essv5092801,essv5122304,essv5123818,essv5004752,essv5025449,essv5139406,essv5002884,essv5027741,essv5136267,essv5106440,essv5133304,essv5145442,essv5157902,essv5160582,essv5063277,essv5046433,essv5029013,essv5074317,essv5078340,essv5095613,essv5128546,essv5051577,essv5080516,essv5036506,essv5020180,essv5156511,essv5095305,essv5118472,essv5029485,essv5122868,essv5039916,essv5132737,essv5150944,essv5049639,essv5121359,essv5120585,essv5010405,essv5157798,essv5033965,essv5041973,essv5066028,essv5135356,essv5098288,essv5097362,essv5010084,essv5088229,essv5155650,essv5016154,essv5029116,essv5120932,essv5054028,essv5054840,essv5150573,essv5002873,essv5050836,essv5084062,essv5079199,essv5138541,essv5015824,essv5009838,essv5065370,essv5016476,essv5036012,essv5082854,essv5066491,essv5127607,essv5016197,essv5030781,essv5081494,essv5145198,essv5043297,essv5097964,essv5151768,essv5129669,essv5028462,essv5072151,essv5019278,essv5152087,essv5052879,essv5115634,essv5142684,essv5123296,essv5013386,essv5058933,essv5021906,essv5092127,essv5141278,essv5024786,essv5129132,essv5026332,essv5141115,essv5095581,essv5156369,essv5042297,essv5129339,essv5055297,essv5141772,essv5022708,essv5010346,essv5033813,essv5056142,essv5102838,essv5068491,essv5080903,essv5011026,essv5125292,essv5137776,essv5149526,essv5036242,essv5087036,essv5123175,essv5037035,essv5101786,essv5018143,essv5019212,essv5156487,essv5090148,essv5078047,essv5063630,essv5045118,essv5048557,essv5109011,essv5004539,essv5112694,essv5080201,essv5069748,essv5144677,essv5058669,essv5148356,essv5158745,essv5025472,essv5144484,essv5085217,essv5075153,essv5109120,essv5015665,essv5113541,essv5019942,essv5091930,essv5024576,essv5003574,essv5013595,essv5137903,essv5004053,essv5042100,essv5055456,essv5100245,essv5133983,essv5081267,essv5055646,essv5016853,essv5131516,essv5005094,essv5057487,essv5043526,essv5159522,essv5138778,essv5086340,essv5045549,essv5036427,essv5117890,essv5096658,essv5143913,essv5148417 M 1184 0 184 "" NA06994,NA07051,NA10831,NA10837,NA10838,NA10850,NA10853,NA10855,NA10859,NA11830,NA11832,NA11839,NA11843,NA11881,NA11918,NA11931,NA12003,NA12043,NA12156,NA12249,NA12272,NA12273,NA12286,NA12336,NA12341,NA12342,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12546,NA12766,NA12776,NA12817,NA12827,NA12864,NA12872,NA12890,NA18128,NA18149,NA18159,NA18516,NA18593,NA18623,NA18702,NA18749,NA18947,NA18952,NA19038,NA19078,NA19079,NA19102,NA19107,NA19117,NA19140,NA19144,NA19174,NA19206,NA19374,NA19375,NA19377,NA19384,NA19399,NA19448,NA19456,NA19457,NA19649,NA19651,NA19660,NA19661,NA19662,NA19664,NA19665,NA19669,NA19671,NA19676,NA19682,NA19683,NA19684,NA19755,NA19762,NA19763,NA19776,NA19779,NA19781,NA19788,NA19794,NA19796,NA19819,NA19828,NA20282,NA20284,NA20348,NA20357,NA20360,NA20515,NA20516,NA20522,NA20543,NA20581,NA20754,NA20756,NA20765,NA20766,NA20768,NA20778,NA20786,NA20787,NA20796,NA20799,NA20801,NA20802,NA20803,NA20807,NA20811,NA20812,NA20819,NA20849,NA20851,NA20856,NA20858,NA20861,NA20862,NA20869,NA20870,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20882,NA20883,NA20884,NA20894,NA20901,NA20902,NA20903,NA20907,NA21089,NA21097,NA21102,NA21105,NA21107,NA21109,NA21115,NA21125,NA21137,NA21141,NA21143,NA21144,NA21297,NA21307,NA21318,NA21370,NA21381,NA21383,NA21403,NA21417,NA21418,NA21423,NA21434,NA21435,NA21448,NA21486,NA21489,NA21491,NA21494,NA21509,NA21521,NA21522,NA21529,NA21576,NA21582,NA21596,NA21616,NA21631,NA21693,NA21723,NA21733 nsv516251 5 151495149 151523321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652225,nssv676620,nssv663083,nssv662436,nssv651724,nssv665956,nssv653165,nssv669284,nssv666598,nssv678333,nssv676814,nssv667804,nssv671662,nssv671194,nssv684941,nssv680680,nssv665878,nssv673244,nssv689429,nssv676163,nssv657752,nssv665310,nssv691169,nssv688130,nssv652675,nssv677704,nssv670594,nssv658954,nssv681757,nssv652805,nssv654785,nssv670325,nssv654014,nssv684913,nssv661990,nssv665594,nssv670105,nssv671970,nssv671273,nssv656619,nssv674571,nssv655514,nssv664677,nssv658477,nssv665103,nssv691000,nssv671378,nssv656172,nssv661659,nssv658844,nssv677224,nssv663051,nssv685748,nssv679507,nssv691529,nssv674282,nssv687228,nssv663785,nssv690199,nssv670292,nssv686371,nssv654922,nssv655191,nssv674595 M 2026 0 64 "" nsv442964 5 151495579 151498544 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514331 5 151496080 151498576 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627778 S 1414 0 1 "" nsv5073 5 151532039 151577233 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2555 S 9 0 1 "" NA18555 nsv513270 5 151561044 151564581 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626778 S 1 0 1 "" 1 nsv515540 5 151561873 151562404 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670326,nssv688869,nssv663862,nssv682183,nssv678914,nssv683981 M 2026 0 6 "" nsv830519 5 151568820 151780385 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445112 S 95 0 1 NMUR2 nsv883048 5 151662632 151826429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580457,nssv1545698 M 6533 0 2 NMUR2 IS35319,MS16917 esv1437112 5 151674278 151674346 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064057 S 2 0 1 "" HuRef esv2526464 5 151707843 151708301 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354787 S 1 0 1 "" NA18507 esv1009065 5 151818888 151826544 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586544 S 3 1 0 "" HuRef esv26375 5 151823226 151826681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18894 S 451 0 1 "" NA12878 esv272561 5 151831089 151831471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580664 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270267 5 151831102 151831398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505174,essv2498806,essv2512068 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA19138,NA19238 esv22557 5 151937146 151941410 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15679 S 451 0 1 "" NA18511 nsv5074 5 151990884 152035972 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8169 S 9 0 1 "" NA12156 esv1281932 5 152057535 152057591 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4099316 S 2 0 1 "" HuRef esv1092837 5 152103757 152103757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255010 S 2 1 0 "" HuRef esv1469935 5 152108441 152108495 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805217 S 2 0 1 "" HuRef nsv883049 5 152139377 152380087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552710 S 6533 0 1 "" MS19587 esv1189625 5 152177083 152177083 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749514 S 2 1 0 "" HuRef nsv433479 5 152199995 152211719 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463360 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 dgv29e197 5 152211936 152212391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing esv2534770,esv2556941 M 1 0 1 "" NA18507 nsv883050 5 152257730 152520219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544889 S 6533 1 0 "" MS16564 nsv516577 5 152304894 152340687 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675610,nssv701385,nssv674596,nssv699917,nssv669285,nssv676759,nssv693296,nssv674547 M 2026 8 0 "" nsv883051 5 152307861 152389425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565118 S 6533 0 1 "" IS30368 esv2466608 5 152399528 152401351 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308079 S 1 0 1 "" NA18507 esv2420170 5 152400220 152401416 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946539 S 1 0 1 "" NA18507 esv272019 5 152509898 152510227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558006,essv2575828,essv2541030,essv2521402,essv2542319,essv2536790,essv2570794,essv2556612,essv2523152,essv2570589,essv2548231,essv2535290,essv2554219,essv2552077,essv2564630,essv2576168,essv2564239,essv2530689,essv2561868,essv2537696,essv2546644,essv2530471,essv2540137,essv2550251,essv2527142,essv2522205,essv2566694,essv2543485,essv2556380,essv2562228,essv2539359,essv2534087,essv2527596,essv2571996,essv2526686,essv2524004,essv2571499,essv2574324,essv2548766,essv2547875 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA10851,NA11830,NA11831,NA11894,NA11919,NA11920,NA11993,NA11994,NA12004,NA12044,NA12045,NA12249,NA12287,NA12489,NA12751,NA12814,NA12828,NA12873,NA12874,NA12878,NA12892,NA18486,NA18489,NA18511,NA18522,NA18571,NA18853,NA18870,NA18871,NA18909,NA18912,NA18916,NA18952,NA18973,NA19114,NA19129,NA19238,NA19240 esv272749 5 152509898 152510227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581813,essv2582811,essv2584357,essv2583323 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 nsv5075 5 152624665 152659404 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8170 S 9 0 1 "" NA12156 nsv441969 5 152668371 152672600 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv883052 5 152676300 152729202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554364 S 6533 0 1 "" MS20753 nsv883053 5 152676300 152786413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599000 S 6533 0 1 "" IS40890 esv271709 5 152916900 152917395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504004 S 157 1 0 Samples from several populations that are part of the HapMap project. GRIA1 hapmap_pooled_sample_set nsv507300 5 152935656 152941656 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621822 S 4 1 0 GRIA1 NA10860 esv5069 5 152966551 152966775 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27510 S 1 0 1 Single Asian sample YH GRIA1 YH nsv883054 5 152977511 153020268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598903 S 6533 0 1 GRIA1 IS40890 dgv1864e1 5 153062206 153273106 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv104,essv1940 M 271 0 0 GRIA1 NA18959 nsv883055 5 153104493 153192412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588471 S 6533 0 1 GRIA1 IS38207 esv1062257 5 153197815 153197815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040570 S 2 1 0 "" HuRef nsv328936 5 153282632 153283695 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347514 M 24 "" nsv509096 5 153285978 153317515 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618047,nssv620838 M 4 2 0 "" CHM,NA15510 nsv5078 5 153298914 153327187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4871 S 9 1 0 "" NA19129 esv1006770 5 153305800 153309545 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563596 S 3 1 0 "" HuRef nsv883056 5 153308854 153387590 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594260 S 6533 1 0 FAM114A2 IS39745 nsv508385 5 153317515 153437875 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622538,nssv622537 M 4 0 1 FAM114A2,MFAP3 NA18994 nsv328754 5 153460839 153460916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347332 M 24 "" nsv883057 5 153506244 153560374 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553346 S 6533 0 1 GALNT10 MS19941 esv23918 5 153564208 153567518 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16333 S 451 0 1 GALNT10 NA12414 esv2582402 5 153628530 153629163 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246690 S 1 1 0 GALNT10 NA18507 nsv5079 5 153675909 153707808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3395 S 9 1 0 GALNT10 NA12878 nsv521696 5 153707075 153715677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698317 S 2026 0 1 GALNT10 nsv830520 5 153732038 153913508 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445113 S 95 0 1 FLJ38109,GALNT10,HAND1,SAP30L nsv5080 5 153741124 153765986 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3396 S 9 1 0 FLJ38109,GALNT10 NA12878 nsv524343 5 153777068 153778073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700250 S 2026 0 1 FLJ38109,GALNT10 esv28214 5 153782775 153786962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19133 S 451 0 1 FLJ38109 NA19108 esv275523 5 153824984 153836668 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585704 S 1250 0 1 HAND1 esv269484 5 153916848 153916933 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515467 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv327262 5 153943658 153943866 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345840 M 24 "" nsv520916 5 153955769 153975507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697686 S 2026 0 1 MIR3141 esv8777 5 153996622 154004324 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31218 S 1 0 1 "" SJK nsv462491 5 154025473 154046398 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538644 S 1557 0 1 "" 1782681296_A nsv510000 5 154046810 154052810 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618220 S 4 0 1 "" CHM nsv830521 5 154127760 154224459 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445114 S 95 1 0 C5orf4,CNOT8,LARP1 esv270493 5 154240619 154240948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504641,essv2499845 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19099,NA19225 nsv5081 5 154251778 154254089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4872 S 9 1 0 GEMIN5 NA19129 esv2111508 5 154295985 154296348 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835863 S 1 0 1 GEMIN5 NA18507 esv992806 5 154296110 154296194 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578602 S 3 0 1 GEMIN5 HuRef esv1191862 5 154296110 154296195 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4359930 S 2 0 1 GEMIN5 HuRef nsv327782 5 154296111 154296195 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346360 M 24 GEMIN5 nsv883058 5 154355658 154412773 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525577 S 6533 1 0 KIF4B SP56708 esv21446 5 154373534 154378362 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11005 S 451 1 0 KIF4B NA12004 nsv883059 5 154438098 154536423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525578 S 6533 1 0 "" SP56708 esv274987 5 154467783 154469595 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585329 S 1250 0 1 "" nsv462492 5 154469586 154504103 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538645 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00790 esv271551 5 154486394 154486479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518183 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv4527 5 154547952 154548323 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26968 S 1 0 1 Single Asian sample YH "" YH nsv528238 5 154581940 154589273 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704800 S 2026 0 1 "" nsv471052 5 154628367 154770550 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545175 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01300 nsv5082 5 154643921 154652437 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8171 S 9 0 1 "" NA12156 nsv462493 5 154671354 154786696 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538646 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01300 esv991969 5 154704832 154706609 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564113 S 3 1 0 "" HuRef nsv5083 5 154761539 154776923 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8172 S 9 0 1 "" NA12156 nsv883060 5 154838797 154891408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601040 S 6533 0 1 "" IS41964 nsv518023 5 154891408 154903174 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695433 S 2026 1 0 "" nsv5084 5 154894486 154898073 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8173 S 9 1 0 "" NA12156 esv2591208 5 154908789 154910202 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183531 S 1 0 1 "" NA18507 nsv5085 5 154958701 155003628 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8174 S 9 0 1 "" NA12156 nsv523530 5 155060940 155061502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699304 S 2026 0 1 "" esv272668 5 155069943 155070144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580783,essv2579055,essv2579660 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv5086 5 155157519 155172823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9414 S 9 1 0 "" NA18517 esv270112 5 155223164 155223249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516762,essv2515406,essv2515650,essv2514218,essv2517557,essv2516291,essv2516902 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12249,NA12815,NA12874,NA12878,NA12891,NA12892 esv273511 5 155223173 155223484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581648,essv2582400,essv2583001 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2468226 5 155243870 155245618 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254893 S 1 0 1 "" NA18507 dgv984n67 5 155244135 155245342 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823325,nsv823326 M 31 16 7 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18582,NA18942,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 nsv820871 5 155244135 155245342 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420548 S 1 0 1 "" NA10851 esv2011358 5 155244182 155245322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640693 S 1 0 1 "" NA18507 esv4500 5 155244320 155245204 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26941 S 1 0 1 Single Asian sample YH "" YH esv27423 5 155244353 155245161 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17984 S 451 10 10 "" NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12749,NA15510,NA18502,NA18508,NA18523,NA18858,NA18916,NA19108,NA19114,NA19129,NA19190 dgv217n6 5 155244362 155245158 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329554,nsv329841 M 24 "" esv8798 5 155244368 155245149 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31239 S 1 0 1 "" SJK nsv820019 5 155244382 155245234 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419102 S 2 1 0 "" AK1 nsv883061 5 155249318 155304128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541726 S 6533 0 1 "" MS15479 dgv1865e1 5 155313275 155548476 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv721,essv17483 M 271 0 0 "" NA12762 nsv10763 5 155336532 155340587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14148 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv823327 5 155337528 155338981 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440367 S 31 0 1 "" NA18564 nsv279 5 155393362 155433064 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv279 S 1 0 1 "" NA15510 nsv5087 5 155393362 155448776 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11113,nssv9415,nssv508,nssv9678 M 9 0 4 "" NA15510,NA18507,NA18517,NA19240 nsv10764 5 155405622 155427617 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15162,nssv15884,nssv13835,nssv14343,nssv13652,nssv15192,nssv13867,nssv15681 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA11830,NA18502,NA18517,NA18860 esv23751 5 155409234 155427600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18524 S 451 0 7 "" NA12287,NA12776,NA12828,NA15510,NA18502,NA18517,NA18858 nsv442965 5 155409350 155415307 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421420 5 155409350 155421495 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5141335,essv5012015,essv5058845,essv5137706,essv5077599,essv5075713,essv5124561,essv5015300,essv5150815,essv5068563,essv5088485,essv5124879,essv5109872,essv5142815,essv5068242,essv5016814,essv5128081,essv5032097,essv5014783,essv5097693,essv5113414,essv5102209,essv5005535,essv5017121,essv5067794,essv5062327,essv5053643,essv5067542,essv5050725,essv5041400,essv5115642,essv5059812,essv5097927,essv5004882,essv5128397,essv5004419,essv5012670,essv5075967,essv5102799,essv5005207,essv5082083,essv5035839,essv5104192,essv5138132,essv5068367,essv5114236,essv5075142,essv5079625,essv5058476,essv5094308,essv5063761,essv5041844,essv5017590,essv5119366,essv5060449,essv5152990,essv5117545,essv5143294,essv5027900,essv5071113,essv5026886,essv5042184,essv5145722,essv5079027,essv5134837,essv5151288,essv5015266,essv5136296,essv5034893,essv5103711,essv5011415,essv5157574,essv5034537,essv5008423,essv5103256,essv5033679,essv5029667,essv5050959,essv5008431,essv5135836,essv5101135,essv5133132,essv5150100,essv5154175,essv5110490,essv5019086,essv5024141,essv5014160,essv5095685,essv5046993,essv5107986,essv5098952,essv5131980,essv5088671,essv5140398,essv5129260,essv5040918,essv5045064,essv5036414,essv5105471,essv5108571,essv5139166,essv5083395,essv5159826,essv5023565,essv5101544,essv5082707,essv5032977,essv5021876,essv5027981,essv5004608,essv5131298,essv5102609,essv5144106,essv5123009,essv5108881,essv5147318,essv5009408,essv5070326,essv5153095,essv5131118,essv5027637,essv5124699,essv5060725,essv5131448,essv5130271,essv5040599,essv5099006,essv5086114,essv5006235,essv5141399,essv5026477,essv5004410,essv5087058,essv5034677,essv5099975,essv5072995,essv5023523,essv5007423,essv5035870,essv5105647,essv5117487,essv5054786,essv5158947,essv5148319,essv5006967,essv5134845,essv5018086,essv5050055,essv5156339,essv5087153,essv5072104,essv5028536,essv5113592,essv5095078,essv5036267,essv5089252,essv5085437,essv5021270,essv5107172,essv5127624,essv5023533,essv5017447,essv5073117,essv5020010,essv5029541,essv5150938,essv5157979,essv5045477,essv5104371,essv5092511,essv5082384,essv5065575,essv5032201,essv5014767,essv5123843,essv5136837,essv5041175,essv5137906,essv5148277,essv5043981,essv5030291,essv5133751,essv5039792,essv5054809,essv5063966,essv5097016,essv5011994,essv5119039,essv5108759,essv5077708,essv5035635,essv5102739,essv5055467,essv5046790,essv5083698,essv5027860,essv5089148,essv5070942,essv5043315,essv5027730,essv5051717,essv5058035 M 1184 0 203 "" NA06989,NA06994,NA07000,NA07029,NA07055,NA07346,NA07347,NA10845,NA10847,NA10852,NA10853,NA10854,NA10856,NA10864,NA11830,NA11839,NA11840,NA11893,NA11918,NA11920,NA11930,NA12045,NA12146,NA12154,NA12286,NA12287,NA12336,NA12342,NA12343,NA12546,NA12707,NA12708,NA12718,NA12752,NA12753,NA12761,NA12762,NA12763,NA12767,NA12776,NA12777,NA12778,NA12812,NA12814,NA12817,NA12828,NA12830,NA12832,NA12843,NA12865,NA12874,NA12875,NA12877,NA12890,NA17974,NA18486,NA18497,NA18498,NA18500,NA18507,NA18517,NA18520,NA18858,NA18860,NA18870,NA18872,NA19041,NA19044,NA19175,NA19198,NA19206,NA19208,NA19307,NA19317,NA19321,NA19347,NA19352,NA19371,NA19372,NA19374,NA19375,NA19399,NA19404,NA19439,NA19443,NA19473,NA19474,NA19656,NA19676,NA19677,NA19746,NA19759,NA19760,NA19761,NA19762,NA19763,NA19771,NA19779,NA19782,NA19783,NA19784,NA19794,NA19795,NA19914,NA19915,NA19916,NA19921,NA20129,NA20282,NA20284,NA20344,NA20345,NA20348,NA20349,NA20357,NA20360,NA20502,NA20509,NA20510,NA20517,NA20518,NA20519,NA20524,NA20530,NA20531,NA20534,NA20535,NA20541,NA20542,NA20543,NA20589,NA20752,NA20757,NA20758,NA20766,NA20768,NA20769,NA20778,NA20783,NA20790,NA20795,NA20796,NA20801,NA20803,NA20805,NA20806,NA20808,NA20812,NA20815,NA20816,NA20818,NA20845,NA20847,NA20861,NA20869,NA20871,NA20890,NA20894,NA20902,NA20908,NA21086,NA21098,NA21100,NA21103,NA21108,NA21113,NA21115,NA21117,NA21137,NA21141,NA21144,NA21297,NA21300,NA21303,NA21307,NA21309,NA21312,NA21313,NA21339,NA21355,NA21371,NA21453,NA21454,NA21475,NA21477,NA21485,NA21487,NA21488,NA21490,NA21517,NA21520,NA21524,NA21580,NA21582,NA21614,NA21616,NA21632,NA21634,NA21636,NA21686,NA21733,NA21739,NA21826 esv2504345 5 155409389 155433317 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329685 S 1 0 1 "" NA18507 nsv514332 5 155410816 155415136 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627779 S 1414 0 1 "" esv33066 5 155411082 155427618 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101445,essv101178,essv96804,essv100918,essv95086,essv98149,essv94038,essv101297,essv97009,essv97839,essv95535,essv93129,essv97353,essv101631,essv94487,essv98582,essv95944,essv93459,essv93336,essv94998,essv92632,essv96568,essv99241,essv100186,essv96320 M 51 25 0 "" 21603,21618,21659,21693,21721,21772,21802,21805,21817,21837,21847,21863,21879,21909,21932,22085,22127,22128,22170,22231,22233,22261,22275,22286,22371 esv7724 5 155434344 155434408 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30165 S 1 1 0 "" SJK essv13946 5 155497577 155530032 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19160 nsv517943 5 155499122 155523894 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695354 S 2026 0 1 "" essv14257 5 155509005 155515691 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19100 dgv1866e1 5 155509005 155530680 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12097,essv9518,essv8528,essv8253,essv10617,essv9494,essv16372,essv13339,essv9567 M 271 0 0 "" NA18500,NA18501,NA18521,NA18523,NA19099,NA19153,NA19154,NA19172,NA19211 nsv10765 5 155509177 155525073 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13820 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 esv29920 5 155509519 155523943 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15650 S 451 0 4 "" NA18523,NA18909,NA19099,NA19108 nsv442966 5 155509796 155522862 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514333 5 155510176 155522720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627780 S 1414 0 1 "" dgv1867e1 5 155512692 155515691 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9526,essv15172 M 271 0 0 "" NA19210,NA19223 nsv517106 5 155513021 155523894 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686728,nssv657998,nssv659542,nssv691924,nssv682524,nssv664959,nssv669200,nssv682303,nssv681342,nssv675236,nssv690081,nssv667923,nssv655315,nssv656552,nssv690414,nssv670660,nssv651790,nssv687598,nssv653796,nssv679478,nssv666084,nssv655794,nssv657260,nssv684410 M 2026 0 24 "" nsv830522 5 155532135 155687094 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445115 S 95 1 0 SGCD nsv328185 5 155545435 155545435 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346763 M 24 "" esv1776781 5 155545436 155545436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643806 S 2 1 0 "" HuRef esv2100165 5 155546931 155547324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586940 S 1 0 1 "" NA18507 nsv510001 5 155673740 155679740 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623988 S 4 0 1 "" NA18994 esv27446 5 155881166 155886845 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18776 S 451 0 1 SGCD NA19114 nsv830523 5 155895901 156039542 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445117,nssv1445116 M 95 2 0 SGCD esv273222 5 155908712 155908941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580884 S 7 1 0 Samples from several populations that are part of the HapMap project. SGCD NA19238 nsv830524 5 155941172 156118619 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445119 S 95 1 0 SGCD esv33782 5 155948693 155949278 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99767,essv99308 M 51 1 1 SGCD 22086,22275 esv33006 5 155954389 155956152 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99167 S 51 1 0 SGCD 22275 nsv883062 5 156087733 156224183 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552840 S 6533 0 1 PPP1R2P3,SGCD MS19634 esv6048 5 156130215 156130323 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28489 S 1 1 0 "" SJK nsv518243 5 156163554 156215875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694216 S 2026 0 1 PPP1R2P3 dgv358n21 5 156198101 156215993 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525058,nsv526991 M 2026 0 2 PPP1R2P3 nsv522295 5 156206059 156215875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694153 S 2026 0 1 PPP1R2P3 esv1009526 5 156353159 156360546 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563598 S 3 0 1 "" HuRef esv1004108 5 156354037 156358210 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586155 S 3 0 1 "" HuRef nsv528418 5 156426318 156437811 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705010 S 2026 0 1 "" esv271175 5 156499283 156499628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514623,essv2518733,essv2517665 M 157 3 0 Samples from several populations that are part of the HapMap project. MED7 NA11840,NA12045,NA12878 esv272962 5 156499283 156499628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581631 S 7 1 0 Samples from several populations that are part of the HapMap project. MED7 NA12878 nsv515686 5 156617489 156631707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675096,nssv664386 M 2026 0 2 CYFIP2 nsv830526 5 156685117 156887519 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445120 S 95 0 1 ADAM19,CYFIP2,FNDC9,NIPAL4 nsv5089 5 156814490 156850002 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8175 S 9 0 1 ADAM19,NIPAL4 NA12156 nsv462497 5 156821675 156853489 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538648 S 1557 0 1 ADAM19,NIPAL4 NINDS_64 nsv883063 5 156875863 156939579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600411,nssv1554153 M 6533 0 2 ADAM19 IS41881,MS20630 esv997268 5 156881286 156886054 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563579 S 3 0 1 ADAM19 HuRef esv6935 5 156887200 156890369 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29376 S 1 0 1 ADAM19 SJK dgv1868e1 5 156930186 157165622 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv405,essv17581 M 271 0 0 ADAM19,C5orf52,CLINT1,LSM11,SOX30,THG1L NA12762 esv2548260 5 156949750 156951259 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247832 S 1 0 1 "" NA18507 nsv527582 5 156969990 156972315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704043 S 2026 0 1 "" nsv10766 5 157041103 157044241 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16290 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv5090 5 157110048 157145028 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4873,nssv8176 M 9 2 0 LSM11 NA12156,NA19129 nsv509097 5 157126810 157160099 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619427,nssv620839 M 4 2 0 CLINT1 NA10860,NA15510 esv1006771 5 157137061 157138582 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565093 S 3 1 0 "" HuRef nsv521000 5 157146075 157180442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693477,nssv679650 M 2026 0 2 CLINT1 esv22643 5 157223771 157225535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14198 S 451 0 1 "" NA18502 nsv507301 5 157264550 157270550 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621823 S 4 1 0 "" NA10860 nsv523270 5 157319734 157327384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699004 S 2026 0 1 "" nsv5091 5 157323204 157333916 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10479 S 9 1 0 "" NA18956 nsv523439 5 157323538 157327384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699195 S 2026 0 1 "" esv275084 5 157326121 157334473 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585970 S 1250 0 1 "" nsv883064 5 157464547 157650484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559631 S 6533 0 1 "" MS24073 nsv328266 5 157518451 157518451 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346844 M 24 "" nsv330163 5 157547855 157550704 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348741 M 24 "" nsv520127 5 157579894 157587622 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697237 S 2026 0 1 "" esv2491969 5 157668982 157670552 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320610 S 1 0 1 "" NA18507 nsv499790 5 157710873 157713266 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585554 S 9 0 0 "" nsv7372 5 157711581 157749781 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10480 S 9 0 0 "" NA18956 esv269659 5 157732582 157732718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502893,essv2504232,essv2498378,essv2500028,essv2499940,essv2504490,essv2506403,essv2494456,essv2500167,essv2510036,essv2499266,essv2507516,essv2505361,essv2511708,essv2504744,essv2510459 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA12156,NA18505,NA18526,NA18558,NA18562,NA18563,NA18566,NA18572,NA18573,NA18593,NA18605,NA18638,NA18853,NA18940,NA19099,NA19172 nsv883065 5 157733594 157959606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597540 S 6533 0 1 "" IS40890 esv267749 5 157735574 157735755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500850,essv2502283,essv2503409,essv2502762,essv2508443,essv2507462,essv2504350 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11830,NA12004,NA12716,NA12892,NA18582,NA18638 esv274534 5 157735579 157735716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580977,essv2579435 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv5092 5 157795325 157831625 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8177,nssv3397 M 9 2 0 "" NA12156,NA12878 esv1006837 5 157799787 157801334 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564571 S 3 1 0 "" HuRef dgv6363n71 5 157812067 157904756 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883066,nsv883067 M 6533 0 3 "" IS34358,IS35605,MS20710 nsv883068 5 157821969 157959606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596746,nssv1553660,nssv1554870,nssv1585349 M 6533 0 4 "" IS37428,IS40627,MS20237,MS21059 nsv883069 5 157858140 157910001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600472,nssv1533334 M 6533 0 2 "" IS41889,MS11105 dgv6364n71 5 157858140 157959606 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883070,nsv883071 M 6533 0 2 "" IS34572,IS36131 nsv830527 5 157904521 157940005 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445122,nssv1445121 M 95 0 2 "" nsv520936 5 157915692 157916350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697697 S 2026 0 1 "" nsv5093 5 158051408 158085329 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4874 S 9 1 0 EBF1 NA19129 nsv830528 5 158057800 158272607 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445123 S 95 1 0 EBF1 esv999938 5 158110225 158114659 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564240 S 3 0 1 EBF1 HuRef dgv153e180 5 158110893 158113623 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994210,esv996771 M 3 0 1 EBF1 HuRef esv6691 5 158154877 158154955 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29132 S 1 1 0 EBF1 SJK nsv5094 5 158179823 158211230 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6034 S 9 1 0 EBF1 NA12156 nsv524803 5 158336707 158356323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700795 S 2026 0 1 EBF1 nsv526407 5 158407789 158435306 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702707 S 2026 0 1 EBF1 esv2604737 5 158524271 158526025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376132 S 1 0 1 RNF145 NA18507 esv1940942 5 158524785 158525523 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975305 S 1 0 1 RNF145 NA18507 esv3302 5 158524869 158525410 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25743 S 1 0 1 Single Asian sample YH RNF145 YH esv1006507 5 158524984 158525328 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584161 S 3 0 1 RNF145 HuRef esv1085574 5 158524986 158525331 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4123682 S 2 0 1 RNF145 HuRef esv7930 5 158524988 158525326 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30371 S 1 0 1 RNF145 SJK esv5760 5 158533895 158533985 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28201 S 1 1 0 RNF145 SJK esv33911 5 158613868 158622409 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92912 S 51 1 0 "" 21939 esv270475 5 158649713 158650052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516679,essv2519245,essv2518658,essv2514944,essv2516560,essv2518027,essv2516123,essv2514231,essv2517888,essv2516288,essv2516898,essv2517305,essv2515243,essv2519361 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA11894,NA12045,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970,NA19238 esv273527 5 158649718 158650047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581688,essv2582517,essv2583171,essv2584106 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv1659936 5 158649751 158649751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650446 S 2 1 0 "" HuRef esv269175 5 158659990 158660313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494867,essv2513486,essv2506730 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18520,NA18907,NA19108 nsv522395 5 158705160 158706357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694164 S 2026 0 1 LOC285626 nsv5095 5 158779411 158811881 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6035 S 9 1 0 LOC285627 NA12156 nsv830529 5 158814934 158982857 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445124 S 95 1 0 LOC285627 esv27408 5 158827991 158831133 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13649 S 451 0 3 "" NA06985,NA11894,NA12004 esv2422299 5 158886840 159119774 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161414 S 181 1 0 MIR548D2 ND01583 esv3483 5 158954855 158955670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25924 S 1 0 1 Single Asian sample YH "" YH esv7409 5 158954892 158955566 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29850 S 1 0 1 "" SJK nsv462499 5 159030472 159257929 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538649 S 1557 1 0 MIR548D2 NINDS_39 esv270772 5 159054694 159055035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557839,essv2571648,essv2545264,essv2521555,essv2535049,essv2552151,essv2558420,essv2576258,essv2519941,essv2562082,essv2552670,essv2527305,essv2560984,essv2559858,essv2522176,essv2532784,essv2567787,essv2563758,essv2556402,essv2567152,essv2534465,essv2573449,essv2576959,essv2530321,essv2545030,essv2547880 M 157 26 0 Samples from several populations that are part of the HapMap project. MIR548D2 NA07347,NA10851,NA11840,NA12003,NA12144,NA12249,NA12489,NA12750,NA12814,NA12815,NA12874,NA18502,NA18522,NA18562,NA18570,NA18571,NA18576,NA18577,NA18603,NA18871,NA18947,NA18959,NA18964,NA18970,NA19141,NA19172 nsv830530 5 159136354 159190885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445125 S 95 1 0 "" esv2624441 5 159167349 159168547 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243134 S 1 0 1 "" NA18507 nsv329541 5 159222675 159223527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348119 M 24 "" nsv462500 5 159244482 159281476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538650 S 1557 0 1 ADRA1B 1780854479_A esv994944 5 159252881 159252881 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572195 S 3 1 0 "" HuRef nsv327404 5 159252882 159252882 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345982 M 24 "" nsv830531 5 159255922 159435630 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445126 S 95 0 1 ADRA1B,PWWP2A,TTC1 esv22831 5 159282379 159283692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19453 S 451 0 2 ADRA1B NA19147,NA19190 nsv528868 5 159399329 159422033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705548 S 2026 0 1 TTC1 dgv359n21 5 159598077 159654250 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516446,nsv521745 M 2026 0 5 CCNJL,FABP6 nsv5096 5 159628533 159663842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3398 S 9 1 0 CCNJL NA12878 nsv5097 5 159730620 159773517 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8179 S 9 0 1 C5orf54,SLU7 NA12156 nsv883072 5 159739161 159794153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569300 S 6533 0 1 C5orf54,PTTG1,SLU7 IS31558 nsv527693 5 159765486 159771241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704171 S 2026 0 1 SLU7 esv989799 5 159813602 159820483 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564438 S 3 0 1 "" HuRef esv24306 5 159854845 159856158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17849 S 451 0 1 "" NA19190 nsv327997 5 159902383 159902434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346575 M 24 "" nsv507302 5 159905981 159911981 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620326 S 4 1 0 "" NA15510 nsv883073 5 159967298 160051326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592965 S 6533 0 1 ATP10B IS39326 esv1140729 5 160012990 160013089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620544 S 2 0 1 ATP10B HuRef esv2251261 5 160013486 160013893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734477 S 1 0 1 ATP10B NA18507 esv1678762 5 160013506 160013506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685550 S 2 1 0 ATP10B HuRef nsv5098 5 160109206 160130740 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9416 S 9 1 0 ATP10B NA18517 esv24641 5 160128835 160132676 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12494,esv13861 M 451 11 0 ATP10B NA07045,NA11931,NA11993,NA11995,NA12239,NA12414,NA12878,NA18517,NA18909,NA19099,NA19129 nsv525166 5 160130499 160131458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701240 S 2026 0 1 ATP10B nsv517932 5 160167703 160222196 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695344 S 2026 1 0 ATP10B nsv528076 5 160199409 160203637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704612 S 2026 0 1 ATP10B nsv830532 5 160200903 160397275 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445127 S 95 0 1 ATP10B,LOC285629 nsv883074 5 160228811 161944537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556156 S 6533 0 1 GABRA1,GABRA6,GABRB2,GABRG2,LOC285629 MS21840 nsv513271 5 160361263 160364758 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626779 S 1 0 1 "" 1 esv2509689 5 160363462 160365160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354029 S 1 0 1 "" NA18507 esv2404902 5 160363699 160364418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958476 S 1 0 1 "" NA18507 esv1047972 5 160363896 160364227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800761 S 2 0 1 "" HuRef esv9352 5 160363897 160364216 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31793 S 1 0 1 "" SJK nsv830533 5 160397276 160537623 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445128 S 95 1 0 "" nsv823328 5 160408383 160409326 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426285 S 31 0 1 "" NA18968 esv271328 5 160464045 160464397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515321,essv2516398,essv2515533,essv2514334,essv2517232 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12814,NA12815,NA12874,NA18970 esv9685 5 160465175 160465226 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32126 S 1 1 0 "" SJK dgv1869e1 5 160471139 160490574 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1086,essv7457,essv5957 M 271 0 0 "" NA18577,NA18582,NA18990 dgv1870e1 5 160471139 160626797 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15767,essv3011,essv2600,essv20773,essv24270,essv2473,essv893,essv12396,essv18969,essv2798,essv24697,essv1010,essv7026,essv4824,essv9071,essv4053,essv6257,essv20016,essv9931,essv19278,essv23914,essv16701,essv5197,essv16925,essv16738,essv5903,essv9731,essv14543,essv3366,essv2009,essv4900,essv3757,esv803,essv17089 M 271 0 0 "" NA07048,NA10838,NA10856,NA11829,NA12005,NA12146,NA12814,NA18540,NA18550,NA18561,NA18611,NA18612,NA18635,NA18636,NA18872,NA18913,NA18945,NA18949,NA18961,NA18981,NA18987,NA18990,NA18999,NA19000,NA19005,NA19131,NA19132,NA19142,NA19144,NA19145,NA19172,NA19202,NA19238 nsv823329 5 160473254 160481801 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424228 S 31 0 1 "" NA18582 nsv441971 5 160473766 160482276 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514334 5 160473904 160481408 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627782 S 1414 0 1 "" nsv522074 5 160474005 160480952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694845 S 2026 0 1 "" nsv818391 5 160474005 160480952 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417238 S 112 0 1 "" NA18577 nsv428130 5 160477321 160626797 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450530,nssv450532,nssv450528,nssv450529,nssv450527 M 62 0 5 "" HGDP00449,HGDP00463,NA18498,NA18916,NA19108 esv2576447 5 160520843 160523706 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182171 S 1 0 1 "" NA18507 nsv823330 5 160521392 160522350 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439686,nssv1425783,nssv1432786 M 31 0 3 "" AK4,NA18537,NA18592 esv27217 5 160521601 160522648 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13633 S 451 0 13 "" NA06985,NA07037,NA12006,NA18505,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 esv273982 5 160549838 160550162 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583960,essv2583586 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv2484413 5 160604625 160614608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342088 S 1 0 1 "" NA18507 nsv883075 5 160623159 160644556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578219 S 6533 0 1 "" IS34737 nsv5100 5 160623695 160668375 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8180 S 9 0 1 GABRB2 NA12156 nsv507303 5 160645894 160651894 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620327,nssv617694,nssv622955 M 4 3 0 GABRB2 CHM,NA15510,NA18994 esv34078 5 160803051 161291288 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 GABRA1,GABRA6,GABRB2 esv7129 5 160833427 160833512 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29570 S 1 1 0 GABRB2 SJK dgv6365n71 5 160927383 161047100 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883077,nsv883076 M 6533 0 2 GABRA6 IS30311,IS34599 esv268800 5 160991286 160994411 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518155 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv515649 5 160999467 161019472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675237,nssv680922,nssv666160,nssv663291,nssv679479,nssv664238,nssv654650,nssv675889,nssv662454,nssv693703,nssv659473,nssv657116,nssv655567,nssv690108,nssv684701 M 2026 0 15 "" nsv5101 5 161106405 161151256 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8181 S 9 0 1 "" NA12156 esv2533707 5 161225079 161226514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210511 S 1 0 1 GABRA1 NA18507 nsv883078 5 161323322 161428430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533074 S 6533 0 1 GABRG2 MS11002 dgv6366n71 5 161379739 161463313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883080,nsv883079 M 6533 0 3 GABRG2 IS31205,IS34962,IS39944 nsv462501 5 161385663 161418633 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538651 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00741 esv22373 5 161475750 161476438 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20499 S 451 0 1 GABRG2 NA19190 nsv522344 5 161594925 161604457 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695124 S 2026 0 1 "" esv990242 5 161680741 161680741 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583335 S 3 1 0 "" HuRef esv1175433 5 161680742 161680742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662343 S 2 1 0 "" HuRef nsv328443 5 161680743 161680743 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347021 M 24 "" nsv883081 5 161700571 161926636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587875 S 6533 0 1 "" IS38128 nsv437956 5 161858183 161884064 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468711,nssv468710 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10854,NA12801 nsv5102 5 161877760 161918459 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3400,nssv509,nssv2556 M 9 3 0 "" NA12878,NA18555,NA19240 esv1001885 5 161890325 161890381 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565305 S 3 1 0 "" HuRef nsv830534 5 161954096 162134231 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445130 S 95 0 1 "" nsv5103 5 162077677 162105109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2713 S 9 1 0 "" NA18555 nsv328365 5 162086550 162091776 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346943 M 24 "" esv1313751 5 162141200 162141200 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772174 S 2 1 0 "" HuRef esv1713340 5 162141300 162141300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866600 S 2 1 0 "" HuRef nsv327884 5 162141567 162141567 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346462 M 24 "" nsv471053 5 162151615 162197602 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545177 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00632 esv2537082 5 162163840 162164823 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192583 S 1 1 0 "" NA18507 esv268049 5 162164498 162164825 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565819,essv2576048,essv2540776,essv2525982,essv2542327,essv2522893,essv2544158,essv2571067,essv2556478,essv2568273,essv2577194,essv2548285,essv2521693,essv2576619,essv2525526,essv2535432,essv2554170,essv2544264,essv2551994,essv2520352,essv2547309,essv2558607,essv2564689,essv2577671,essv2553522,essv2559526,essv2576235,essv2520147,essv2564111,essv2530808,essv2528586,essv2540182,essv2552423,essv2551702,essv2532196,essv2562545,essv2569231,essv2550205,essv2539054,essv2569861,essv2561708,essv2544646,essv2562848,essv2523715,essv2540254,essv2524347,essv2564876,essv2534548,essv2539807,essv2519606,essv2521978,essv2530973,essv2568026,essv2528990,essv2567413,essv2541558,essv2535602,essv2559347,essv2542050,essv2556420,essv2527758,essv2539261,essv2578332,essv2573144,essv2533627,essv2567038,essv2566478,essv2529868,essv2573923,essv2527646,essv2555991,essv2534404,essv2543235,essv2571904,essv2525726,essv2575494,essv2538735,essv2560671,essv2524023,essv2530419,essv2568515,essv2560399,essv2548054,essv2571288,essv2546051,essv2574418,essv2551465,essv2549108,essv2525200,essv2563102 M 157 90 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10847,NA11829,NA11830,NA11831,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12043,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12815,NA12828,NA12873,NA12891,NA18489,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18519,NA18520,NA18523,NA18526,NA18532,NA18537,NA18552,NA18555,NA18558,NA18561,NA18563,NA18566,NA18571,NA18573,NA18577,NA18579,NA18582,NA18592,NA18608,NA18638,NA18856,NA18871,NA18907,NA18912,NA18940,NA18942,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18965,NA18973,NA18980,NA19099,NA19108,NA19116,NA19129,NA19141,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv273702 5 162164498 162164825 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582272,essv2583964,essv2584506,essv2583815 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv1599591 5 162164529 162164529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739298 S 2 1 0 "" HuRef dgv6367n71 5 162191125 162290273 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883082,nsv883083 M 6533 0 3 "" IS31445,IS31729,MS23531 nsv883084 5 162191125 162331039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581384 S 6533 0 1 "" IS35572 esv271673 5 162212951 162213271 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512498,essv2496768,essv2504130,essv2501021,essv2504833 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18505,NA18856,NA19099 nsv5104 5 162262646 162295170 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3401 S 9 1 0 "" NA12878 esv1004532 5 162304418 162316005 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564361 S 3 0 1 "" HuRef nsv830535 5 162321490 162501803 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445131 S 95 1 0 "" esv3810 5 162367895 162368345 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26251 S 1 0 1 Single Asian sample YH "" YH esv9148 5 162367961 162368260 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31589 S 1 0 1 "" SJK esv1106091 5 162419325 162419497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689010 S 2 0 1 "" HuRef nsv524495 5 162469969 162483304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700433 S 2026 0 1 "" nsv511117 5 162638435 162682662 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624301 S 4 0 0 "" NA18994 nsv507304 5 162642539 162648539 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617695,nssv621824 M 4 2 0 "" CHM,NA10860 dgv728n27 5 162682551 162728762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462503,nsv462502 M 1557 0 2 "" NINDS_158,NINDS_71 nsv520335 5 162682551 162728762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688966,nssv662990 M 2026 0 2 "" nsv830538 5 162737024 162901231 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445132,nssv1445134,nssv1445133 M 95 1 2 CCNG1,HMMR,MAT2B,NUDCD2 esv1184492 5 162789045 162789045 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318706 S 2 1 0 "" HuRef nsv819348 5 162794302 162795927 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419294 S 2 0 1 "" AK1 esv3238 5 162794317 162796011 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25679 S 1 0 1 Single Asian sample YH "" YH esv27757 5 162794318 162795892 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18592 S 451 18 2 "" NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12287,NA12414,NA15510,NA18502,NA18505,NA18517,NA18858,NA18907,NA18916,NA19114,NA19147,NA19190,NA19225,NA19240 nsv820384 5 162794318 162795897 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420549 S 1 0 1 "" NA10851 dgv985n67 5 162794318 162796030 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823333,nsv823332 M 31 0 23 "" AK12,AK14,AK18,AK20,AK4,AK6,AK8,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv2490035 5 162807666 162809173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392775 S 1 0 1 "" NA18507 nsv519801 5 162842294 162848991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678900,nssv658774,nssv683134,nssv681104,nssv659485,nssv676038 M 2026 0 6 HMMR nsv524084 5 162842294 162857364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699953 S 2026 0 1 HMMR esv5535 5 162903920 162904008 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27976 S 1 1 0 "" SJK nsv441972 5 163106031 163113414 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514335 5 163106352 163113408 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627783 S 1414 0 1 "" esv2421538 5 163107731 163114543 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064247,essv5072576,essv5057352,essv5021955,essv5048588,essv5077647,essv5160102,essv5112738,essv5044860,essv5050493,essv5067045,essv5138936,essv5157868 M 1184 0 13 "" NA19143,NA19206,NA20289,NA20290,NA20341,NA20356,NA20358,NA21316,NA21317,NA21420,NA21597,NA21776,NA21825 esv271005 5 163117614 163117983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513461 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18907 dgv986n67 5 163153056 163157142 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823335,nsv823334 M 31 0 2 "" AK8,NA18537 esv21536 5 163197879 163198794 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12462 S 451 0 1 "" NA18909 esv274291 5 163243518 163244138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578939,essv2579720 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271631 5 163243674 163244010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509884,essv2496288,essv2494698,essv2505322,essv2513243,essv2509315,essv2507309,essv2501388,essv2509459,essv2497668,essv2501739 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18511,NA18519,NA18853,NA18907,NA18909,NA18912,NA19093,NA19129,NA19147,NA19239 nsv823336 5 163325396 163326635 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441076 S 31 0 1 "" NA18969 esv275159 5 163406081 163420859 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585192 S 1250 0 1 "" nsv883085 5 163527423 163575753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512316 S 6533 1 0 "" SP55424 esv274231 5 163545937 163546022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581118 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv511279 5 163586577 163605861 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv624999 S 1 0 1 "" 1 esv2562409 5 163596930 163599679 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323461 S 1 0 1 "" NA18507 esv2036106 5 163597464 163599218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681674 S 1 0 1 "" NA18507 nsv513272 5 163597559 163599187 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626780 S 1 0 1 "" 1 esv25799 5 163597906 163598998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17426 S 451 0 4 "" NA12287,NA15510,NA18858,NA18907 nsv830539 5 163632146 163775329 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445135 S 95 1 0 "" nsv883086 5 163656859 163719531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562493 S 6533 0 1 "" MS25617 esv273380 5 163672095 163674350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579944 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv269144 5 163672106 163674244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494392,essv2507284,essv2494042,essv2513446,essv2512033 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18870,NA18871,NA18907,NA19238 esv2582740 5 163687873 163691251 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231428 S 1 0 1 "" NA18507 esv1576471 5 163688868 163688868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303158 S 2 1 0 "" HuRef nsv462507 5 163713149 163781686 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538655 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00512 nsv462508 5 163757536 163815733 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538656 S 1557 0 1 "" 1798860114_A nsv327486 5 163911005 163911078 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346064 M 24 "" nsv830540 5 163934742 164108788 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445136 S 95 1 0 "" nsv5105 5 163985777 164020703 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv510 S 9 1 0 "" NA19240 nsv830541 5 164021367 164191850 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445137 S 95 0 1 "" nsv526240 5 164035661 164037379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702509 S 2026 0 1 "" nsv883087 5 164037379 164158276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590306 S 6533 0 1 "" IS38490 esv22095 5 164074049 164075702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15905 S 451 0 1 "" NA07037 nsv883088 5 164102627 164324035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597410 S 6533 0 1 "" IS41292 nsv883089 5 164127172 164216121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580091,nssv1587555,nssv1568682 M 6533 0 3 "" IS31330,IS35229,IS38065 dgv6368n71 5 164127172 164286271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883090,nsv883091 M 6533 0 2 "" IS31187,IS35788 esv21455 5 164159338 164159913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15610 S 451 0 1 "" NA12239 nsv327543 5 164163962 164164806 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346121 M 24 "" nsv528624 5 164252013 164633779 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705254 S 2026 0 1 "" esv2427873 5 164297916 164299466 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178998 S 1 0 1 "" NA18507 esv2004469 5 164298689 164299384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661331 S 1 0 1 "" NA18507 esv3581 5 164298836 164299289 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26022 S 1 0 1 Single Asian sample YH "" YH esv1207916 5 164298875 164299185 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222360 S 2 0 1 "" HuRef dgv218n6 5 164298876 164299200 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv329947,nsv328520 M 24 "" esv9472 5 164298889 164299185 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31913 S 1 0 1 "" SJK nsv5106 5 164310896 164346141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv511 S 9 1 0 "" NA19240 nsv525870 5 164375672 164381466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702070 S 2026 0 1 "" nsv883092 5 164375672 164462127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537295 S 6533 0 1 "" MS13154 nsv823337 5 164399817 164406318 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435880 S 31 0 1 "" NA18566 nsv5107 5 164414179 164448118 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8182 S 9 1 0 "" NA12156 esv268921 5 164427700 164427785 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514928 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv1377310 5 164478003 164478053 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810865 S 2 0 1 "" HuRef nsv526419 5 164607819 164687752 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702720 S 2026 1 0 "" nsv883093 5 164617904 164864377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507221 S 6533 0 1 "" SP54509 esv29234 5 164654880 164658550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11457 S 451 0 1 "" NA18858 nsv515650 5 164656183 164656251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672745,nssv664239,nssv665635,nssv666218,nssv689589,nssv674912,nssv669391,nssv662937,nssv679284,nssv675340,nssv671405,nssv674260,nssv690484,nssv656525 M 2026 0 14 "" nsv524389 5 164656183 164659385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700306 S 2026 0 1 "" esv1396337 5 164705069 164705069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829085 S 2 1 0 "" HuRef nsv883094 5 164718873 164797964 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562186 S 6533 1 0 "" MS25429 nsv883095 5 164724659 164813950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550822 S 6533 0 1 "" MS18620 nsv883096 5 164732568 164785523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505574 S 6533 0 1 "" SP53687 dgv6369n71 5 164762840 164835158 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883098,nsv883097 M 6533 0 2 "" IS32615,IS33588 nsv819862 5 164782438 164807393 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418699 S 2 1 0 "" AK1 nsv883099 5 165038803 165113819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527563 S 6533 0 1 "" SP58537 esv2394807 5 165114480 165114914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853676 S 1 0 1 "" NA18507 nsv5108 5 165147571 165180165 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6037 S 9 1 0 "" NA12156 esv2607014 5 165151526 165153038 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356809 S 1 0 1 "" NA18507 dgv1871e1 5 165155278 165334527 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1892,esv145,essv15095,essv887,essv16211 M 271 0 0 "" NA18976,NA19000,NA19129,NA19161 nsv10767 5 165155280 165162407 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14881,nssv12679,nssv14858,nssv13735,nssv16320,nssv13030,nssv14889,nssv12851,nssv15717,nssv15222 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740,NA12802,NA12872,NA18502,NA18572,NA18980,NA19132,NA19221,NA19240 esv2438665 5 165159584 165161224 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191017 S 1 0 1 "" NA18507 esv2202035 5 165160329 165160734 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899141 S 1 0 1 "" NA18507 esv1112109 5 165160794 165160884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305213 S 2 0 1 "" HuRef nsv10768 5 165338688 165352282 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15711 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv329786 5 165414024 165414304 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348364 M 24 "" dgv207e55 5 165455406 166010000 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752063,esv2752062 M 771 2 0 "" BEC_314,BEC_405 nsv521633 5 165470868 165515461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698252 S 2026 0 1 "" nsv830542 5 165508395 165668895 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445138 S 95 1 0 "" nsv5109 5 165684787 165724784 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8183 S 9 0 1 "" NA12156 nsv516071 5 165700272 165711472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656640,nssv666023,nssv670840 M 2026 0 3 "" nsv5111 5 165767871 165798835 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9417 S 9 0 1 "" NA18517 dgv112n17 5 165770607 165782628 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437473,nsv437472 M 60 0 2 "" NA18914,NA19173 nsv10769 5 165771092 165941741 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15914,nssv14369 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA19173 esv2421853 5 165771452 165782533 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5125374,essv5120253,essv5024883,essv5094914,essv5153119,essv5157395,essv5152824,essv5129673,essv5014145,essv5066840,essv5064573,essv5074725,essv5070166,essv5060325,essv5136052,essv5040926,essv5155773,essv5089344,essv5134888,essv5044802,essv5003581,essv5073386,essv5084035,essv5130370,essv5040012,essv5069388,essv5114265,essv5116226,essv5043851,essv5052583,essv5117265,essv5018642,essv5115827,essv5070359,essv5139889,essv5003183,essv5149854,essv5083125 M 1184 0 38 "" NA18498,NA18499,NA18515,NA18517,NA18913,NA18914,NA18917,NA18930,NA19041,NA19098,NA19152,NA19154,NA19160,NA19161,NA19171,NA19173,NA19181,NA19235,NA19237,NA19238,NA19307,NA19314,NA19701,NA19702,NA19703,NA19901,NA20127,NA20129,NA20322,NA20337,NA20342,NA20343,NA21307,NA21356,NA21390,NA21517,NA21738,NA21826 nsv514336 5 165771504 165782096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627784 S 1414 0 1 "" esv26993 5 165771504 165782543 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18864 S 451 0 1 "" NA18517 nsv442968 5 165772240 165782533 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv519873 5 165772698 165780000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662215,nssv660847,nssv659227,nssv659995,nssv663498 M 2026 0 5 "" nsv330060 5 165946954 165948182 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348638 M 24 "" esv1651572 5 166042757 166042757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240326 S 2 1 0 "" HuRef nsv830543 5 166079436 166247339 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445139 S 95 0 1 "" esv2571143 5 166083025 166084451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217638 S 1 0 1 "" NA18507 esv2290153 5 166083157 166083835 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981228 S 1 0 1 "" NA18507 nsv5112 5 166169701 166203886 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8184 S 9 1 0 "" NA12156 nsv823338 5 166184504 166185957 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435103 S 31 1 0 "" NA18942 esv1005411 5 166215707 166218638 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564265 S 3 0 1 "" HuRef esv2566584 5 166226040 166227715 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348530 S 1 0 1 "" NA18507 esv4078 5 166226482 166227062 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26519 S 1 0 1 Single Asian sample YH "" YH esv1405184 5 166226707 166226899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754438 S 2 0 1 "" HuRef esv1006977 5 166226713 166226904 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576259 S 3 0 1 "" HuRef nsv328321 5 166226722 166226913 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346899 M 24 "" nsv511295 5 166333785 166341242 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625177 S 1 0 1 "" 1 nsv830544 5 166334955 166511816 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445141 S 95 1 0 "" nsv513273 5 166335292 166336351 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626781 S 1 0 1 "" 1 esv25357 5 166335295 166335915 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16573 S 451 0 2 "" NA11993,NA15510 nsv5113 5 166389950 166434701 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8186 S 9 0 1 "" NA12156 esv1961643 5 166406805 166407242 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606134 S 1 0 1 "" NA18507 esv1651447 5 166407018 166407018 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666969 S 2 1 0 "" HuRef esv1302475 5 166407018 166407100 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808659 S 2 0 1 "" HuRef nsv830545 5 166480038 166584839 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445142 S 95 0 1 "" esv275516 5 166582884 166595156 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585886,essv2586050 M 1250 1 1 "" nsv883100 5 166651385 166741180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581385 S 6533 0 1 ODZ2 IS35572 nsv5114 5 166669417 166702071 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6038 S 9 1 0 ODZ2 NA12156 nsv883101 5 166692434 166730514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582342 S 6533 0 1 ODZ2 IS35911 nsv883102 5 166706112 166730514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594135 S 6533 0 1 ODZ2 IS39716 nsv883103 5 166706112 166741180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537296,nssv1594188,nssv1567668 M 6533 0 3 ODZ2 IS31137,IS39718,MS13154 esv271565 5 166723664 166723749 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519180,essv2515286 M 157 2 0 Samples from several populations that are part of the HapMap project. ODZ2 NA11894,NA12249 esv1093097 5 166787236 166787464 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109229 S 2 0 1 ODZ2 HuRef esv25479 5 166791589 166792261 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11274 S 451 0 1 ODZ2 NA19190 nsv883104 5 166904035 166970512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575447 S 6533 0 1 ODZ2 IS33747 nsv507305 5 166947478 166953478 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621825 S 4 1 0 ODZ2 NA10860 esv1773187 5 166959669 166959669 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938490 S 2 1 0 ODZ2 HuRef nsv510002 5 166963642 166969642 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621274,nssv618221 M 4 0 2 ODZ2 CHM,NA15510 esv2320159 5 167005544 167006001 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584553 S 1 0 1 ODZ2 NA18507 nsv327594 5 167005750 167005832 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346172 M 24 ODZ2 esv2474493 5 167020078 167020206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195526 S 1 0 1 ODZ2 NA18507 nsv5115 5 167034489 167079598 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8187 S 9 0 1 ODZ2 NA12156 esv22564 5 167050966 167059009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16566 S 451 0 1 ODZ2 NA18861 nsv5116 5 167084894 167118242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4875 S 9 1 0 ODZ2 NA19129 nsv462511 5 167207665 167257387 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538657 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ODZ2 HGDP00708 nsv823339 5 167217500 167218272 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436640 S 31 1 0 ODZ2 NA18542 nsv830546 5 167235713 167388849 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445143 S 95 0 1 ODZ2 nsv507306 5 167332472 167338472 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622957,nssv620328 M 4 2 0 ODZ2 NA15510,NA18994 esv2424408 5 167332918 167334530 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201538 S 1 0 1 ODZ2 NA18507 esv1994221 5 167333437 167334105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758545 S 1 0 1 ODZ2 NA18507 nsv517414 5 167395343 167397596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651956,nssv663958,nssv705804 M 2026 0 3 ODZ2 nsv510003 5 167472231 167478231 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623989,nssv622104,nssv618222 M 4 0 3 ODZ2 CHM,NA10860,NA18994 nsv510004 5 167508108 167514108 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623990 S 4 0 1 ODZ2 NA18994 nsv328697 5 167545500 167545555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347275 M 24 ODZ2 dgv219n6 5 167545519 167545574 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327429,nsv329934 M 24 ODZ2 esv1674597 5 167545524 167545574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4317341 S 2 0 1 ODZ2 HuRef esv259492 5 167588060 167588356 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394130,essv2393818,essv2393693,essv2393996,essv2394316 M 6 0 0 Samples from several populations that are part of the HapMap project. ODZ2 NA12878,NA12892,NA19238,NA19239,NA19240 esv259774 5 167588071 167588370 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398488,essv2399355,essv2397329,essv2396900,essv2395648,essv2397671,essv2397782,essv2396142,essv2395698,essv2400710,essv2399442,essv2400134,essv2394697,essv2394453,essv2395888,essv2395476,essv2397158,essv2400834,essv2398755,essv2398301,essv2394870,essv2396410,essv2398054,essv2399684,essv2395977,essv2397084,essv2400450,essv2394478 M 144 0 0 Samples from several populations that are part of the HapMap project. ODZ2 NA11894,NA12287,NA12878,NA12892,NA18501,NA18502,NA18505,NA18523,NA18532,NA18542,NA18858,NA18861,NA18870,NA18943,NA18945,NA18948,NA18951,NA18952,NA19005,NA19093,NA19114,NA19138,NA19147,NA19210,NA19238,NA19239,NA19240,NA19257 nsv5117 5 167599279 167644435 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8188 S 9 0 1 ODZ2 NA12156 nsv462512 5 167604683 167634619 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538658 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ODZ2 HGDP00551 nsv527385 5 167621874 167623786 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703820 S 2026 1 0 ODZ2 nsv5118 5 167653034 167677105 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3402 S 9 1 0 WWC1 NA12878 nsv5119 5 167657565 167698654 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8189 S 9 0 1 WWC1 NA12156 esv271087 5 167702719 167702804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516324 S 157 1 0 Samples from several populations that are part of the HapMap project. WWC1 NA12814 nsv823340 5 167708402 167714669 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431331 S 31 0 1 WWC1 AK18 nsv5120 5 167791218 167825708 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3403 S 9 1 0 WWC1 NA12878 nsv516697 5 167846088 167846181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663011,nssv685425,nssv670211,nssv692457,nssv676877,nssv677952,nssv682891 M 2026 0 7 RARS esv2012921 5 167912525 167912932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950972 S 1 0 1 "" NA18507 nsv823341 5 167913549 167914587 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440107 S 31 0 1 "" NA18547 esv273212 5 168077724 168078060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581273 S 7 1 0 Samples from several populations that are part of the HapMap project. SLIT3 NA19240 esv2516692 5 168085554 168086190 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289633 S 1 1 0 SLIT3 NA18507 nsv512862 5 168085977 168086421 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625504 S 1 1 0 SLIT3 1 esv275039 5 168096826 168103153 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586045 S 1250 0 1 SLIT3 dgv360n21 5 168107869 168112659 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516387,nsv526559 M 2026 0 6 SLIT3 nsv462513 5 168120736 168130379 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538659 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR218-2,SLIT3 HGDP01215 esv273580 5 168177516 168177858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578889 S 7 1 0 Samples from several populations that are part of the HapMap project. SLIT3 NA19239 esv269740 5 168177553 168177837 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496815,essv2504091,essv2496330,essv2501159,essv2508917,essv2498581,essv2494004,essv2509158,essv2507304,essv2506906,essv2497016,essv2512060,essv2502205,essv2503918,essv2511534 M 157 15 0 Samples from several populations that are part of the HapMap project. SLIT3 NA07037,NA07346,NA18498,NA18505,NA18510,NA18516,NA18522,NA18858,NA18871,NA18909,NA18912,NA19102,NA19190,NA19238,NA19257 nsv5122 5 168195330 168239781 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4603 S 9 0 1 SLIT3 NA19129 esv275423 5 168200485 168202822 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585196 S 1250 0 1 SLIT3 nsv328526 5 168202071 168204479 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347104 M 24 SLIT3 esv28158 5 168312774 168313355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12400 S 451 0 1 SLIT3 NA19108 esv989985 5 168502037 168511188 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564808 S 3 0 1 SLIT3 HuRef esv6957 5 168527523 168528164 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29398 S 1 0 0 SLIT3 SJK esv2391131 5 168548924 168549354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503162 S 1 0 1 SLIT3 NA18507 esv2201700 5 168674909 168675538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646232 S 1 0 1 "" NA18507 esv3888 5 168674984 168675410 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26329 S 1 0 1 Single Asian sample YH "" YH esv1672728 5 168675117 168675351 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039668 S 2 0 1 "" HuRef esv6800 5 168675118 168675350 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29241 S 1 0 1 "" SJK nsv328748 5 168692548 168692548 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347326 M 24 "" nsv328631 5 168720337 168721513 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347209 M 24 "" nsv507307 5 168797970 168803970 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620329,nssv617696,nssv621826,nssv622958 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv328498 5 168817149 168819304 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347076 M 24 "" esv21630 5 168842289 168845542 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11622 S 451 1 0 "" NA12239 esv269306 5 168844483 168844804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516639,essv2514151,essv2515386,essv2515762,essv2516154,essv2514295,essv2517674,essv2516289,essv2516863,essv2517221 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12249,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970 esv273228 5 168844492 168844801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581980,essv2582457,essv2582899 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv5123 5 168946615 168954855 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8190 S 9 1 0 CCDC99 NA12156 nsv5124 5 168991001 169036279 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8191 S 9 0 1 DOCK2 NA12156 esv9625 5 169088568 169088646 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32066 S 1 1 0 DOCK2 SJK nsv521295 5 169167656 169173327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697901 S 2026 0 1 DOCK2 esv273090 5 169186508 169186748 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581026 S 7 1 0 Samples from several populations that are part of the HapMap project. DOCK2 NA19238 esv988430 5 169309160 169309403 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564116 S 3 1 0 DOCK2,FAM196B HuRef nsv328128 5 169315636 169321560 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346706 M 24 DOCK2,FAM196B esv260032 5 169372683 169373894 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399390,essv2399191,essv2394443 M 144 0 0 Samples from several populations that are part of the HapMap project. DOCK2 NA12287,NA12776,NA18943 esv26456 5 169372848 169373706 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15428 S 451 0 1 DOCK2 NA18909 nsv329782 5 169400269 169400527 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348360 M 24 DOCK2 nsv525224 5 169434105 169442970 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701312 S 2026 0 1 DOCK2 nsv830547 5 169443404 169617214 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445145,nssv1445144 M 95 1 1 C5orf58,FOXI1,LCP2 esv1004702 5 169493061 169493061 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567749 S 3 1 0 "" HuRef esv1113433 5 169493062 169493062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4215369 S 2 1 0 "" HuRef esv3202 5 169530128 169531587 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25643 S 1 0 1 Single Asian sample YH "" YH esv5648 5 169530274 169531093 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28089 S 1 0 0 "" SJK esv1007904 5 169562576 169565552 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565377 S 3 1 0 "" HuRef nsv462515 5 169625132 169892015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538660 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNIP1,KCNMB1,LCP2,LOC257358 HGDP00706 nsv471054 5 169637869 169892015 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545178 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNIP1,KCNMB1,LCP2,LOC257358 HGDP00706 nsv5125 5 169649376 169684821 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3404 S 9 1 0 LCP2 NA12878 esv2304012 5 169650353 169650769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668305 S 1 0 1 LCP2 NA18507 nsv883105 5 169682736 169700101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504749 S 6533 1 0 LOC257358 SP52719 nsv883106 5 169707277 169753936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597521 S 6533 0 1 KCNIP1,KCNMB1 IS40902 nsv525397 5 169786874 169796533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701520 S 2026 0 1 KCNIP1 nsv5126 5 169799905 169834544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv512 S 9 1 0 KCNIP1 NA19240 nsv5127 5 169818210 169828267 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8192 S 9 0 1 KCNIP1 NA12156 esv3236 5 169877222 169877681 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25677 S 1 0 1 Single Asian sample YH KCNIP1 YH nsv462516 5 169903611 169930216 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538661 S 1557 0 1 KCNIP1 1798860251_A nsv830549 5 169928982 170083967 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445146 S 95 1 0 KCNIP1 nsv462518 5 169942958 169963891 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538663 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNIP1 HGDP01157 esv2188655 5 169959040 169959443 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512539 S 1 0 1 KCNIP1 NA18507 nsv5128 5 170025950 170060427 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3405 S 9 1 0 KCNIP1 NA12878 esv2502584 5 170061833 170064575 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267929 S 1 0 1 KCNIP1 NA18507 nsv823343 5 170062237 170064138 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437457,nssv1432808,nssv1429825,nssv1421728,nssv1439689,nssv1422622,nssv1433665 M 31 0 7 KCNIP1 AK14,NA18526,NA18537,NA18552,NA18592,NA18949,NA18997 dgv154e180 5 170062298 170064148 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010029,esv988099 M 3 1 0 KCNIP1 HuRef esv3889 5 170062304 170064159 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26330 S 1 0 1 Single Asian sample YH KCNIP1 YH esv22848 5 170062357 170064073 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15391 S 451 22 1 KCNIP1 NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA18502,NA18508,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240 nsv820522 5 170062357 170064138 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420550 S 1 0 1 KCNIP1 NA10851 nsv823344 5 170062444 170063608 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430599,nssv1431332 M 31 0 2 KCNIP1 AK16,AK18 nsv823345 5 170062444 170063935 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425786,nssv1424992,nssv1440118,nssv1432884,nssv1438850,nssv1426686,nssv1435881,nssv1435104,nssv1440368,nssv1423424,nssv1438164,nssv1441077,nssv1432064,nssv1428295,nssv1427512,nssv1429070,nssv1436642,nssv1426308 M 31 2 16 KCNIP1 AK10,AK12,AK2,AK20,AK4,AK6,AK8,NA18542,NA18547,NA18564,NA18566,NA18942,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 nsv823346 5 170062805 170063935 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434444 S 31 0 1 KCNIP1 NA18570 nsv510005 5 170072945 170078945 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622105,nssv623991 M 4 0 2 KCNIP1 NA10860,NA18994 esv2096299 5 170091216 170091691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783363 S 1 0 1 KCNIP1 NA18507 esv4823 5 170091355 170091565 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27264 S 1 0 1 Single Asian sample YH KCNIP1 YH esv2521487 5 170091396 170091484 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374067 S 1 0 1 KCNIP1 NA18507 nsv330149 5 170091396 170091484 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348727 M 24 KCNIP1 esv1660639 5 170091405 170091494 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151232 S 2 0 1 KCNIP1 HuRef nsv883107 5 170101558 170135143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525197 S 6533 0 1 "" SP56348 esv1781656 5 170114057 170114133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757324 S 2 0 1 "" HuRef esv2632959 5 170133475 170134390 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271238 S 1 1 0 "" NA18507 esv269113 5 170133884 170134213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558134,essv2541022,essv2571751,essv2542508,essv2522815,essv2544212,essv2571051,essv2556553,essv2568139,essv2545689,essv2531884,essv2548346,essv2521879,essv2550375,essv2520722,essv2547602,essv2558264,essv2564703,essv2577913,essv2565535,essv2564253,essv2555018,essv2537683,essv2528606,essv2547112,essv2540221,essv2557474,essv2557230,essv2552406,essv2532072,essv2569471,essv2578727,essv2558895,essv2537079,essv2539158,essv2561406,essv2544998,essv2523860,essv2552915,essv2541396,essv2542853,essv2524626,essv2564950,essv2534907,essv2561051,essv2539755,essv2549398,essv2519916,essv2559853,essv2521912,essv2566308,essv2531155,essv2532829,essv2567827,essv2528896,essv2541723,essv2570346,essv2553196,essv2572206,essv2559260,essv2541984,essv2569082,essv2543789,essv2556152,essv2528174,essv2562405,essv2534056,essv2573121,essv2555372,essv2533797,essv2567089,essv2529954,essv2573935,essv2527705,essv2522620,essv2531363,essv2573534,essv2543092,essv2573322,essv2526929,essv2529434,essv2575329,essv2538678,essv2526435,essv2560673,essv2574963,essv2530398,essv2572922,essv2568806,essv2560429,essv2549622,essv2571482,essv2546075,essv2574084,essv2551218,essv2548664,essv2533195,essv2554491,essv2563352 M 157 99 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA10847,NA10851,NA11831,NA11840,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12045,NA12144,NA12234,NA12716,NA12717,NA12750,NA12751,NA12761,NA12812,NA12828,NA12872,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18523,NA18526,NA18537,NA18542,NA18545,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18609,NA18638,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18943,NA18944,NA18947,NA18949,NA18951,NA18952,NA18960,NA18961,NA18964,NA18965,NA18969,NA19005,NA19093,NA19102,NA19108,NA19114,NA19116,NA19138,NA19141,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272718 5 170133889 170134216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581793,essv2582336,essv2583101,essv2583926,essv2584485,essv2583891 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1489121 5 170133917 170133917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249241 S 2 1 0 "" HuRef nsv327390 5 170162237 170162237 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345968 M 24 GABRP nsv520782 5 170176011 170533488 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697606 S 2026 1 0 RANBP17 esv2556853 5 170193497 170194014 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235357 S 1 1 0 "" NA18507 nsv5129 5 170267526 170315700 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10482 S 9 0 1 RANBP17 NA18956 nsv328840 5 170275643 170275777 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347418 M 24 RANBP17 esv1010423 5 170275661 170275795 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585307 S 3 0 1 RANBP17 HuRef esv1782186 5 170275662 170275797 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361175 S 2 0 1 RANBP17 HuRef nsv507308 5 170319995 170325995 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622959,nssv620330,nssv621827 M 4 3 0 RANBP17 NA10860,NA15510,NA18994 nsv830550 5 170342439 170518753 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445147 S 95 0 1 RANBP17 nsv508386 5 170434788 170506499 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619965 S 4 0 1 RANBP17 NA15510 nsv525376 5 170531269 170532089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701497 S 2026 0 1 RANBP17 nsv518091 5 170531269 170533488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695503 S 2026 0 1 RANBP17 nsv5130 5 170547211 170577542 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11115 S 9 1 0 RANBP17 NA15510 esv6863 5 170572012 170572110 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29304 S 1 1 0 RANBP17 SJK esv270865 5 170599610 170600068 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510671,essv2493254 M 157 2 0 Samples from several populations that are part of the HapMap project. RANBP17 NA18501,NA18504 nsv5131 5 170606177 170651365 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8193 S 9 0 1 RANBP17 NA12156 nsv830551 5 170679527 170854638 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445148,nssv1445149 M 95 0 2 FGF18,MIR3912,NPM1 nsv508387 5 170694948 170775787 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619966,nssv622539 M 4 0 2 MIR3912,NPM1 NA15510,NA18994 nsv830552 5 170697168 170939044 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445150 S 95 1 0 FGF18,MIR3912,NPM1 nsv823347 5 170752599 170778169 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438853 S 31 1 0 NPM1 NA18973 esv2412659 5 170789970 170790627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4537775 S 1 0 1 FGF18 NA18507 nsv527212 5 170862039 170893905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703612 S 2026 0 1 "" nsv508388 5 170898655 170951610 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619967 S 4 0 1 "" NA15510 esv994760 5 170928463 170936887 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565313 S 3 0 1 "" HuRef nsv830553 5 170996420 171159856 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445152 S 95 0 1 "" esv2031767 5 171049372 171050034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647603 S 1 0 1 "" NA18507 esv271052 5 171049383 171049468 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514744 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 esv34008 5 171060217 171098778 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv462522 5 171200808 171218237 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538664 S 1557 0 1 "" 1780862412_A nsv328032 5 171253057 171257370 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346610 M 24 FBXW11 nsv462523 5 171408294 171456041 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538665 S 1557 0 1 STK10 1780862520_A esv2141451 5 171447030 171447724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4657681 S 1 0 1 STK10 NA18507 nsv10770 5 171469426 171475018 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15493 S 31 0 1 Samples from several populations that are part of the HapMap project. STK10 NA18504 dgv1872e1 5 171473028 171667877 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24849,essv1894,essv12241,essv472,essv2010,essv24937,esv323,essv2260,essv885,essv19384,essv11981,essv18988,essv21019,essv19590,essv5264,essv349 M 271 0 0 EFCAB9,STK10,UBTD2 NA06991,NA06994,NA07000,NA11840,NA12005,NA12864,NA18517,NA18624,NA18949,NA18952,NA18966,NA18971,NA18976,NA19000,NA19101 nsv10771 5 171485650 171487465 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15523 S 31 0 1 Samples from several populations that are part of the HapMap project. STK10 NA18504 esv2128818 5 171549284 171549684 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703253 S 1 0 1 "" NA18507 nsv830554 5 171571913 171721123 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445153 S 95 0 1 SH3PXD2B,UBTD2 esv2422875 5 171656094 171657531 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245896 S 1 0 1 "" NA18507 esv1559445 5 171656503 171656727 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342181 S 2 0 1 "" HuRef esv274397 5 171707196 171707535 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584465,essv2583582 M 7 2 0 Samples from several populations that are part of the HapMap project. SH3PXD2B NA19239,NA19240 esv2651986 5 171727677 171729359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384094 S 1 0 1 SH3PXD2B NA18507 esv272133 5 171826321 171826656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558172,essv2565621,essv2521248,essv2536704,essv2568148,essv2545660,essv2523268,essv2531690,essv2570653,essv2548246,essv2521537,essv2576584,essv2550774,essv2525274,essv2544244,essv2552276,essv2529390,essv2564535,essv2577968,essv2559417,essv2576384,essv2555107,essv2561928,essv2537312,essv2546682,essv2539982,essv2527140,essv2523491,essv2540296,essv2534553,essv2561233,essv2519693,essv2522083,essv2566135,essv2567809,essv2528917,essv2567348,essv2541822,essv2553307,essv2572444,essv2559035,essv2527917,essv2533523,essv2555654,essv2567096,essv2566394,essv2557749,essv2555953,essv2534257,essv2543054,essv2571945,essv2525604,essv2524016,essv2571354,essv2551304,essv2536256,essv2547753,essv2563381 M 157 58 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10847,NA10851,NA11829,NA11894,NA11920,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12414,NA12489,NA12749,NA12751,NA12761,NA12776,NA12814,NA12872,NA12874,NA12878,NA12892,NA18489,NA18522,NA18537,NA18552,NA18561,NA18562,NA18566,NA18571,NA18572,NA18577,NA18579,NA18582,NA18592,NA18605,NA18609,NA18638,NA18907,NA18944,NA18945,NA18947,NA18948,NA18953,NA18956,NA18959,NA18965,NA18973,NA18980,NA19129,NA19238,NA19257 esv273644 5 171826322 171826647 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581950,essv2583206,essv2584375 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 esv4513 5 171844216 171844741 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26954 S 1 0 1 Single Asian sample YH "" YH esv6885 5 171844291 171844615 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29326 S 1 0 1 "" SJK esv2069636 5 171852889 171853280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842502 S 1 0 1 "" NA18507 esv2422244 5 171886949 171987318 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161244 S 181 1 0 "" ND05536 esv2258950 5 171911146 171911505 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840059 S 1 0 1 "" NA18507 dgv1873e1 5 171913937 172148018 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15599,essv16132,essv12593,essv11010,esv871,essv9944 M 271 0 0 DUSP1,NEURL1B NA19098,NA19100,NA19137,NA19143,NA19145 nsv462525 5 171924518 171966705 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538666 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01351 esv2192242 5 171930162 171930567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615477 S 1 0 1 "" NA18507 esv2222488 5 171930470 171930854 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4599876 S 1 0 1 "" NA18507 esv5155 5 171930517 171930951 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27596 S 1 0 1 Single Asian sample YH "" YH nsv330085 5 171930558 171930677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348663 M 24 "" nsv10773 5 171934518 171936707 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14911 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv34432 5 171950809 172112189 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986620,essv6978451,essv6978452,essv6978453 M 771 1 0 NEURL1B NA19100 essv10497 5 171966705 172095541 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NEURL1B NA19143 nsv462526 5 171975920 172012494 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538667 S 1557 0 1 NEURL1B 1780862094_A nsv883108 5 171976602 172045679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553755 S 6533 0 1 NEURL1B MS20286 nsv523045 5 172012494 172087612 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698728 S 2026 1 0 NEURL1B dgv729n27 5 172012494 172103875 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462530,nsv462527 M 1557 2 0 NEURL1B HGDP00642,HGDP01259 nsv441974 5 172013141 172095539 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NEURL1B dgv208e55 5 172015884 172112189 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34944,esv34866,esv35050 M 771 3 0 NEURL1B NA19098,NA19137,NA19145 dgv1874e1 5 172015884 172113303 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13987,essv14258,essv14666 M 271 0 0 NEURL1B NA19098,NA19100,NA19145 essv9266 5 172015884 172148018 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DUSP1,NEURL1B NA19137 nsv471055 5 172023755 172088612 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545179 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NEURL1B HGDP01259 nsv818392 5 172023755 172088612 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418152,nssv1418153,nssv1416935 M 112 3 0 NEURL1B NA19137,NA19143,NA19145 nsv522263 5 172025104 172028971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695042 S 2026 0 1 NEURL1B nsv883109 5 172066659 172133699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546576 S 6533 0 1 DUSP1 MS17208 esv1002500 5 172071149 172078918 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563815 S 3 0 1 "" HuRef nsv462531 5 172071392 172109509 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538671 S 1557 0 1 "" NINDS_70 nsv883110 5 172105958 172145660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509829 S 6533 0 1 DUSP1 SP54956 nsv883111 5 172126282 172131558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505947 S 6533 0 1 DUSP1 SP54043 dgv6370n71 5 172126282 172133699 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883113,nsv883112 M 6533 0 2 DUSP1 SP54725,SP54988 nsv883114 5 172165671 172207869 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555242,nssv1555034,nssv1531324 M 6533 0 3 ERGIC1 MS10393,MS21163,MS21249 nsv507309 5 172169422 172175422 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617697 S 4 1 0 "" CHM esv27215 5 172184999 172185724 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19497 S 451 0 1 "" NA19129 nsv830555 5 172226284 172393713 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445154 S 95 0 1 ATP6V0E1,ERGIC1,LOC100268168,RPL26L1,SNORA74B nsv515804 5 172257584 172283244 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664831,nssv656845,nssv691991,nssv689520,nssv704411,nssv687503,nssv686685 M 2026 0 7 ERGIC1 nsv462532 5 172273428 172287645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538672 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ERGIC1 HGDP01001 nsv517972 5 172274523 172302375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695384 S 2026 0 1 ERGIC1 nsv883115 5 172323299 172364187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599382,nssv1578782 M 6533 0 2 ATP6V0E1,RPL26L1 IS34908,IS41634 dgv361n21 5 172343115 172345280 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521290,nsv521878 M 2026 0 2 ATP6V0E1 nsv327510 5 172391866 172400879 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346088 M 24 ATP6V0E1 nsv507310 5 172444582 172450582 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617698 S 4 1 0 C5orf41 CHM nsv517734 5 172537733 172544254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653043,nssv656340,nssv679444 M 2026 0 3 "" esv268233 5 172545655 172545740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514116,essv2513940 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA19143 esv987652 5 172554834 172561497 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564982 S 3 0 1 "" HuRef esv2625196 5 172619961 172621399 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324161 S 1 0 1 "" NA18507 esv1643598 5 172620655 172620993 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126576 S 2 0 1 "" HuRef nsv526551 5 172622438 172624933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702865 S 2026 0 1 "" esv2537796 5 172632258 172633647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277564 S 1 0 1 "" NA18507 esv2341860 5 172632649 172633362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812701 S 1 0 1 "" NA18507 esv3700 5 172632766 172633232 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26141 S 1 0 1 Single Asian sample YH "" YH esv7187 5 172632839 172633160 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29628 S 1 0 1 "" SJK nsv521433 5 172668895 172672935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698044 S 2026 0 1 "" esv34083 5 172734614 173114805 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BOD1,LOC285593 esv993599 5 172787358 172791119 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563663 S 3 0 1 "" HuRef nsv513274 5 172821224 172823768 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626782 S 1 0 1 "" 1 esv2616437 5 172821418 172822983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382071 S 1 0 1 "" NA18507 esv2413520 5 172822133 172822865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682996 S 1 0 1 "" NA18507 esv4015 5 172822267 172822837 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26456 S 1 0 1 Single Asian sample YH "" YH esv988322 5 172822322 172822654 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567737 S 3 0 1 "" HuRef esv7499 5 172822334 172822654 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29940 S 1 0 1 "" SJK esv1230698 5 172822334 172822667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264954 S 2 0 1 "" HuRef esv33443 5 172905343 172907141 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101608,essv98867,essv94101,essv94565,essv96156,essv99627,essv95004 M 51 0 7 "" 21603,21606,21802,21932,22007,22217,22231 nsv823348 5 172905565 172907319 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426687,nssv1438854,nssv1433666 M 31 0 3 "" AK6,NA18526,NA18973 esv3104 5 172905567 172907465 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25545 S 1 0 1 Single Asian sample YH "" YH esv28529 5 172905608 172907328 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17686 S 451 0 6 "" NA12287,NA18505,NA18858,NA19129,NA19147,NA19225 nsv328217 5 172905621 172907360 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346795 M 24 "" esv7707 5 172905623 172907367 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30148 S 1 0 1 "" SJK esv33597 5 172923627 172924458 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101694,essv94559,essv93490,essv93320,essv99717,essv99219,essv100148 M 51 7 0 "" 21909,21932,22128,22170,22217,22275,22286 nsv5133 5 172932301 172948992 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv513 S 9 1 0 LOC285593 NA19240 esv33991 5 172935228 172938093 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98678 S 51 1 0 "" 21606 esv2145234 5 172967744 172969033 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820122 S 1 0 1 BOD1 NA18507 esv2184384 5 172968863 172972815 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553920 S 1 0 1 BOD1 NA18507 esv1440165 5 172990915 172990965 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3634377 S 2 0 1 "" HuRef nsv5134 5 173002485 173017891 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8194 S 9 0 1 "" NA12156 esv26697 5 173022849 173023846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10419 S 451 0 3 "" NA18505,NA18916,NA19108 esv259760 5 173095415 173095755 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400202,essv2400341,essv2398476,essv2400913,essv2398897,essv2398108,essv2399161,essv2399743,essv2397351,essv2401036,essv2396940,essv2395688,essv2398824,essv2398981,essv2394442,essv2395443,essv2398137,essv2397117,essv2400787,essv2397775,essv2394549 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11881,NA11894,NA11993,NA11995,NA12144,NA12776,NA12828,NA12878,NA12891,NA12892,NA18532,NA18582,NA18605,NA18943,NA18948,NA18949,NA18951,NA18952,NA18956,NA18965 esv259505 5 173095426 173095717 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394166,essv2393910,essv2393820 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv24711 5 173101519 173103232 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17550 S 451 0 1 "" NA19108 nsv5135 5 173120333 173153635 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8196 S 9 1 0 "" NA12156 esv2483876 5 173124924 173125887 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322893 S 1 1 0 "" NA18507 esv998209 5 173125552 173125558 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567793 S 3 1 0 "" HuRef nsv327645 5 173125554 173125554 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346223 M 24 "" esv1176874 5 173125559 173125559 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351081 S 2 1 0 "" HuRef nsv329407 5 173125560 173125560 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347985 M 24 "" nsv5136 5 173151657 173196490 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8197 S 9 0 1 "" NA12156 nsv510006 5 173203014 173209014 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623992,nssv618223 M 4 0 2 "" CHM,NA18994 nsv521607 5 173229975 173233293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698224 S 2026 0 1 "" esv2497414 5 173363770 173365329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206789 S 1 0 1 C5orf47 NA18507 dgv113n17 5 173396730 173405426 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437475,nsv437474 M 60 0 2 HMP19 NA18503,NA19202 esv990876 5 173428300 173428352 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573261 S 3 0 1 HMP19 HuRef esv1477078 5 173428435 173428488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355431 S 2 0 1 HMP19 HuRef nsv5137 5 173453723 173498490 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8198 S 9 0 1 HMP19 NA12156 esv4757 5 173477444 173477910 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27198 S 1 0 1 Single Asian sample YH "" YH esv1060400 5 173477721 173477829 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3810039 S 2 0 1 "" HuRef nsv521573 5 173515657 173525193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698189 S 2026 0 1 "" nsv462534 5 173524966 173549305 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538673 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01190 esv2541235 5 173539076 173540574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323573 S 1 0 1 "" NA18507 esv2103437 5 173539529 173540231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735010 S 1 0 1 "" NA18507 nsv328934 5 173573049 173573141 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347512 M 24 "" esv34032 5 173573315 173644498 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv883116 5 173599925 173635809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562821 S 6533 0 1 "" MS25751 nsv441975 5 173633789 173635583 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2512543 5 173679209 173680821 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390980 S 1 0 1 "" NA18507 esv2343719 5 173679983 173680366 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649177 S 1 0 1 "" NA18507 dgv1875e1 5 173726296 173745954 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18507,esv900 M 271 0 0 "" NA12763 nsv883117 5 173863757 173940788 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577836 S 6533 1 0 "" IS34573 esv6931 5 173881697 173881857 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29372 S 1 0 1 "" SJK nsv883118 5 173891938 173918724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518244 S 6533 1 0 "" SP57478 nsv327890 5 173949969 173958439 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346468 M 24 "" esv988054 5 173966144 173973722 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565621 S 3 0 1 "" HuRef nsv883119 5 173972409 174063119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598629 S 6533 0 1 "" IS40902 nsv5138 5 174051532 174066729 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8199 S 9 0 1 "" NA12156 esv2447532 5 174061944 174065223 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388501 S 1 0 1 "" NA18507 nsv823349 5 174062648 174063214 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421729 S 31 0 1 "" NA18997 esv25034 5 174062925 174064315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18991 S 451 0 3 "" NA18517,NA19147,NA19240 nsv5139 5 174091546 174122435 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8200 S 9 1 0 MIR4634 NA12156 nsv509099 5 174098223 174107720 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619429,nssv623460 M 4 2 0 "" NA10860,NA18994 nsv436796 5 174102867 174103100 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466253 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1001758 5 174103008 174104066 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564001 S 3 1 0 "" HuRef esv2333311 5 174159289 174159646 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999769 S 1 0 1 "" NA18507 esv2037796 5 174219748 174220089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639639 S 1 0 1 "" NA18507 nsv462535 5 174272822 174292823 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538674 S 1557 0 1 "" 1780854325_A nsv5140 5 174324530 174369174 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8201 S 9 0 1 "" NA12156 nsv830556 5 174327212 174509430 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445155 S 95 1 0 "" nsv327895 5 174342440 174342495 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346473 M 24 "" esv268610 5 174345493 174345785 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506250,essv2507130,essv2495567,essv2506961,essv2499848,essv2502277 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18870,NA18916,NA19102,NA19225,NA19257 esv23769 5 174368607 174373166 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20517 S 451 0 1 "" NA12828 nsv441976 5 174368627 174371849 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2100028 5 174378437 174378921 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671334 S 1 0 1 "" NA18507 nsv520029 5 174407468 174410242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697186 S 2026 0 1 "" nsv516982 5 174409070 174410242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668564,nssv690109,nssv653550,nssv659474,nssv693171,nssv671946,nssv656500,nssv660601,nssv667583,nssv667473 M 2026 0 10 "" esv2565961 5 174410077 174410758 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162370 S 1 1 0 "" NA18507 nsv523084 5 174410242 174414039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698776 S 2026 0 1 "" esv1609770 5 174410483 174410483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4008316 S 2 1 0 "" HuRef esv25127 5 174485208 174485807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12438 S 451 0 1 "" NA12004 nsv528482 5 174501709 174509673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705085 S 2026 0 1 "" esv2552591 5 174504383 174505859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239760 S 1 0 1 "" NA18507 nsv517816 5 174555689 174569183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695221 S 2026 0 1 "" esv1003625 5 174578565 174578614 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566992 S 3 0 1 "" HuRef nsv521964 5 174604762 174607725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694732 S 2026 0 1 "" nsv329210 5 174647501 174650495 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347788 M 24 "" esv2459973 5 174692808 174693824 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294416 S 1 1 0 "" NA18507 esv1545031 5 174693412 174693412 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750370 S 2 1 0 "" HuRef nsv329773 5 174713522 174722767 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348351 M 24 "" esv25079 5 174752385 174753014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20962 S 451 0 1 "" NA11894 nsv519401 5 174783256 174787755 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683866,nssv674913,nssv655943 M 2026 3 0 "" nsv883120 5 174788017 174798697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547148 S 6533 0 1 "" MS17216 nsv469707 5 174876083 175052752 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649728 M 265 0 2 Samples from several populations that are part of the HapMap project. HRH2,SFXN1 nsv5141 5 174962805 175008591 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6039 S 9 0 1 "" NA12156 esv270308 5 174965009 174965094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515595 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 nsv883121 5 175137389 175172046 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536333 S 6533 1 0 CPLX2 MS12721 esv2345664 5 175148107 175148536 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969675 S 1 0 1 "" NA18507 esv5189 5 175148209 175148432 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27630 S 1 0 1 Single Asian sample YH "" YH nsv329372 5 175148325 175148401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347950 M 24 "" nsv462538 5 175208091 175243963 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538675 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CPLX2 HGDP00815 nsv5142 5 175259961 175292340 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv514 S 9 1 0 "" NA19240 nsv883122 5 175261639 175524042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592615 S 6533 1 0 FAM153B,LOC100507387,LOC643201,THOC3 IS39243 dgv6371n71 5 175266798 175471879 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883123,nsv883124 M 6533 2 0 FAM153B,THOC3 IS38688,MS17438 nsv10774 5 175278310 175284365 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15944,nssv15553 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517 esv29100 5 175278417 175282904 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18276 S 451 0 1 "" NA18517 esv2444903 5 175279155 175288451 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281889 S 1 1 0 "" NA18507 dgv1876e1 5 175279234 175696974 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13977,esv645,essv7837,essv11487 M 271 0 0 C5orf25,FAM153B,LOC100507387,LOC643201,THOC3 NA18558,NA18856,NA19098 esv34563 5 175279396 175690322 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978433,essv6986615 M 771 1 0 C5orf25,FAM153B,LOC100507387,LOC643201,THOC3 NA19098 esv2437962 5 175282975 175283468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204683 S 1 0 1 "" NA18507 nsv10775 5 175298491 175314910 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15252 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv883125 5 175320690 175398143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513038 S 6533 0 1 THOC3 SP55671 nsv10776 5 175326756 175329309 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16350 S 31 1 0 Samples from several populations that are part of the HapMap project. THOC3 NA19221 nsv883126 5 175339749 175451647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558190 S 6533 1 0 FAM153B MS23152 dgv6372n71 5 175352473 175432330 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883128,nsv883127 M 6533 2 0 "" IS35142,IS38487 dgv1877e1 5 175371041 175696974 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15952,essv12566,essv14252,essv17369,essv17348,essv16145 M 271 0 0 C5orf25,FAM153B,LOC100507387,LOC643201 NA18515,NA18517,NA18856,NA19098,NA19100 dgv6373n71 5 175371847 175471879 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883131,nsv883130,nsv883132,nsv883129 M 6533 11 0 FAM153B IS32607,IS35470,IS35608,IS36512,IS38143,IS38670,MS13512,MS15509,MS17056,MS22748,SP56231 nsv883133 5 175374203 175492445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570582 S 6533 1 0 FAM153B,LOC100507387 IS32167 nsv883134 5 175389314 175451647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513050,nssv1515656,nssv1512807,nssv1515075,nssv1512622,nssv1503759 M 6533 6 0 FAM153B SP52109,SP55565,SP55630,SP55671,SP56119,SP56234 nsv10777 5 175390888 175400000 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14266,nssv14919,nssv14941,nssv14373,nssv14068,nssv13865,nssv13850 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA12740,NA18552,NA18853,NA19144,NA19240 esv2421778 5 175409726 175583090 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130292,essv5015642,essv5009651,essv5109357,essv5047517,essv5067974,essv5054260,essv5109170,essv5015969,essv5161071,essv5153220,essv5160535,essv5057843,essv5075611,essv5099526,essv5060085,essv5067070,essv5140018,essv5132040,essv5127654 M 1184 20 0 FAM153B,LOC100507387,LOC643201 NA18162,NA18515,NA18517,NA18923,NA18925,NA19098,NA19113,NA19115,NA19213,NA19313,NA19317,NA19376,NA19448,NA20291,NA20292,NA20301,NA21295,NA21686,NA21689,NA21693 nsv441977 5 175409726 175583090 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM153B,LOC100507387,LOC643201 dgv6374n71 5 175419199 175599889 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883135,nsv883136 M 6533 2 0 C5orf25,FAM153B,LOC100507387,LOC643201 SP50876,SP81114 nsv428131 5 175422730 175685508 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450540 S 62 1 0 C5orf25,FAM153B,LOC100507387,LOC643201 NA19113 nsv883137 5 175451647 175585859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569925 S 6533 0 1 FAM153B,LOC100507387,LOC643201 IS31748 nsv10778 5 175454671 175457649 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14399,nssv13845 M 31 0 2 Samples from several populations that are part of the HapMap project. FAM153B NA18537,NA19173 nsv10779 5 175476662 175483713 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16253 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC100507387 NA18972 nsv883138 5 175479261 175561995 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547879,nssv1583989,nssv1559845,nssv1594296,nssv1563224,nssv1522223,nssv1522157,nssv1564075,nssv1585095,nssv1596954 M 6533 6 4 LOC100507387,LOC643201 IS30160,IS36772,IS37270,IS39780,IS40678,MS17609,MS24183,MS25903,SP52751,SP52830 nsv883139 5 175479261 175585859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528290,nssv1573704 M 6533 2 0 LOC100507387,LOC643201 IS33493,SP81188 nsv830557 5 175482233 175679466 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445156 S 95 0 1 C5orf25,LOC100507387,LOC643201 nsv10780 5 175486535 175494657 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15974 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 esv29909 5 175490429 175564447 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14350,esv10372 M 451 1 1 LOC643201 NA18505,NA18517 dgv730n27 5 175492445 175551861 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462551,nsv462545,nsv462543,nsv462544,nsv462540,nsv462541,nsv462542,nsv462552 M 1557 8 0 LOC643201 HGDP00543,HGDP00913,HGDP00918,HGDP00926,HGDP00934,HGDP00940,HGDP01406,HGDP01412 nsv818393 5 175492445 175551861 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416444,nssv1416445,nssv1416353 M 112 3 0 LOC643201 NA18515,NA18517,NA18856 nsv883140 5 175492445 175561995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590911,nssv1566932,nssv1587217 M 6533 0 3 LOC643201 IS31011,IS37996,IS38603 dgv731n27 5 175492445 175619697 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462546,nsv462553,nsv462547 M 1557 3 0 C5orf25,LOC643201 HGDP00727,HGDP00928,HGDP00994 nsv516952 5 175492445 175619697 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673974,nssv690922,nssv680357,nssv653551,nssv657351,nssv675452,nssv653216,nssv690260,nssv698392,nssv680439,nssv672429,nssv689274,nssv684034,nssv678735,nssv683597,nssv681513,nssv666952,nssv653330,nssv685357,nssv664170,nssv686316,nssv679715 M 2026 13 9 C5orf25,LOC643201 nsv462548 5 175492445 175663413 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538685 S 1557 1 0 C5orf25,LOC643201 1780854599_A nsv462549 5 175492445 175743739 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538686 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARL10,C5orf25,KIAA1191,LOC643201 HGDP01285 esv3730 5 175493795 175494024 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26171 S 1 0 1 Single Asian sample YH "" YH esv1007819 5 175493835 175493917 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574183 S 3 0 1 "" HuRef esv1260543 5 175493856 175493941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723430 S 2 0 1 "" HuRef nsv10781 5 175494657 175546842 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16004,nssv14433 M 31 2 0 Samples from several populations that are part of the HapMap project. LOC643201 NA07048,NA18517 esv33221 5 175496653 175504597 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96137 S 51 0 1 LOC643201 22007 nsv433374 5 175503757 175561995 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463255 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC643201 NA18517 dgv209e55 5 175503757 175571000 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34852,esv34486,esv34967 M 771 3 0 LOC643201 NA18517,NA18856,NA19100 nsv883141 5 175528566 175599889 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548501 S 6533 1 0 C5orf25,LOC643201 MS17872 nsv10782 5 175546435 175566860 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14256,nssv14888,nssv15282,nssv14296,nssv16380,nssv16034 M 31 4 2 Samples from several populations that are part of the HapMap project. LOC643201 NA10863,NA12155,NA18502,NA18517,NA18552,NA19221 nsv510007 5 175589796 175595796 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618224 S 4 0 1 "" CHM esv33353 5 175590761 175647615 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101541,essv97481,essv101269,essv93814,essv100812,essv96753,essv101033,essv95145,essv94818,essv94032,essv101375,essv94395,essv96967,essv97963,essv95523,essv93121,essv95351,essv97306,essv101643,essv95793,essv94542,essv99058,essv92900,essv92763,essv93663,essv96154,essv96595,essv96036,essv93480,essv93318,essv99731,essv94967,essv92635,essv96556,essv99170,essv97642,essv100143,essv100478,essv100438,essv99392,essv98447,essv96337,essv94248 M 51 1 42 C5orf25 21603,21616,21618,21634,21656,21659,21693,21721,21791,21802,21805,21808,21817,21837,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22127,22128,22170,22217,22231,22233,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 esv1074689 5 175664756 175664962 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796060 S 2 0 1 C5orf25 HuRef esv2648102 5 175717855 175719337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256765 S 1 0 1 KIAA1191 NA18507 nsv5144 5 175797036 175807541 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8202 S 9 0 1 "" NA12156 nsv521107 5 175848855 175859207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694417 S 2026 0 1 FAF2 esv1281032 5 175878537 175879293 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154036 S 2 0 1 "" HuRef nsv516244 5 175879657 175897089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674179,nssv663587,nssv669812,nssv678249,nssv696947,nssv667295,nssv698107,nssv657510,nssv669978,nssv667007 M 2026 0 10 RNF44 nsv471056 5 175879657 175957486 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545181,nssv545180 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDHR2,GPRIN1,RNF44 HGDP00298,HGDP00543 dgv6375n71 5 175880104 176008840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883142,nsv883143 M 6533 0 2 CDHR2,EIF4E1B,GPRIN1,MIR4281,RNF44,SNCB,TSPAN17 MS16153,MS17208 nsv823350 5 175896720 175897223 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441078 S 31 1 0 RNF44 NA18969 nsv527791 5 175932134 175942731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704283 S 2026 0 1 CDHR2 nsv883144 5 175950061 176056235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575024 S 6533 0 1 CDHR2,EIF4E1B,GPRIN1,MIR4281,SNCB,TSPAN17 IS33684 esv2341441 5 175951163 175951465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583641 S 1 0 1 CDHR2 NA18507 esv1281149 5 175951369 175951369 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716737 S 2 1 0 CDHR2 HuRef nsv883145 5 175957486 176028794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549677 S 6533 0 1 EIF4E1B,GPRIN1,MIR4281,SNCB,TSPAN17 MS18276 nsv883146 5 175993452 176034102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580833 S 6533 0 1 EIF4E1B,TSPAN17 IS35484 nsv462556 5 176013036 176031139 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538691 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSPAN17 HGDP00815 esv1776407 5 176052152 176052152 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309339 S 2 1 0 "" HuRef nsv462557 5 176101113 176226309 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538692 S 1557 0 1 UNC5A NINDS_70 dgv6376n71 5 176108989 176247040 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883147,nsv883148 M 6533 0 2 HK3,UNC5A MS10311,MS17208 nsv509100 5 176130087 176195586 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623461 S 4 1 0 UNC5A NA18994 esv2122136 5 176161189 176161681 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738228 S 1 0 1 "" NA18507 dgv6377n71 5 176161283 176255904 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883153,nsv883154,nsv883149 M 6533 0 3 HK3,UNC5A IS39233,MS16153,MS18276 esv29046 5 176161762 176164317 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18876 S 451 0 1 "" NA18907 dgv6378n71 5 176162248 176242770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883150,nsv883152,nsv883151 M 6533 0 3 HK3,UNC5A IS32737,MS10769,SP54956 dgv732n27 5 176167681 176242804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462559,nsv462560 M 1557 0 2 HK3,UNC5A NINDS_56,NINDS_78 nsv883155 5 176195033 176260942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552191 S 6533 0 1 HK3,UNC5A MS19277 nsv462562 5 176195755 176242804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538696 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HK3,UNC5A HGDP01215 nsv328116 5 176218682 176218771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346694 M 24 UNC5A esv21826 5 176218748 176219448 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14873 S 451 1 0 UNC5A NA19225 esv1663529 5 176218757 176218757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103567 S 2 1 0 UNC5A HuRef esv1776918 5 176219096 176219459 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171734 S 2 0 1 UNC5A HuRef nsv513275 5 176229353 176232808 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626783 S 1 0 1 UNC5A 1 esv1379063 5 176231477 176231548 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358363 S 2 0 1 UNC5A HuRef esv1004326 5 176231860 176232027 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584698 S 3 0 1 UNC5A HuRef esv1176499 5 176231903 176232071 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866014 S 2 0 1 UNC5A HuRef dgv362n21 5 176238284 176248807 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517492,nsv526781 M 2026 0 9 HK3,UNC5A nsv519416 5 176242804 176248807 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696841 S 2026 1 0 HK3 esv270879 5 176256513 176256803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512519,essv2510781,essv2493659,essv2505899,essv2513380,essv2509464,essv2510461,essv2501863 M 157 8 0 Samples from several populations that are part of the HapMap project. HK3 NA18489,NA18501,NA18517,NA18861,NA18907,NA19129,NA19172,NA19239 esv273198 5 176256516 176256639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580808 S 7 1 0 Samples from several populations that are part of the HapMap project. HK3 NA19238 dgv363n21 5 176291214 176602093 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523163,nsv524656 M 2026 2 0 FGFR4,NSD1,UIMC1,ZNF346 nsv5145 5 176316986 176326081 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6041 S 9 0 1 UIMC1 NA12156 esv994326 5 176318271 176323139 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563790 S 3 0 1 UIMC1 HuRef nsv436485 5 176319736 176323555 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466255 S 2 0 1 Samples from several populations that are part of the HapMap project. UIMC1 NA18505 esv2624268 5 176319878 176323740 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166547 S 1 0 1 UIMC1 NA18507 esv2102565 5 176319991 176322966 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605457 S 1 0 1 UIMC1 NA18507 esv3627 5 176320159 176322842 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26068 S 1 0 1 Single Asian sample YH UIMC1 YH esv1009754 5 176320185 176322785 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581288 S 3 0 1 UIMC1 HuRef esv8970 5 176320188 176322806 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31411 S 1 0 1 UIMC1 SJK esv1688212 5 176320193 176320193 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719860 S 2 1 0 UIMC1 HuRef nsv509101 5 176403706 176494970 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619430 S 4 1 0 FGFR4,NSD1,ZNF346 NA10860 esv995054 5 176404540 176406990 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565424 S 3 0 1 ZNF346 HuRef esv2606881 5 176427312 176429821 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355889 S 1 0 1 "" NA18507 esv2205328 5 176427526 176429054 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881237 S 1 0 1 "" NA18507 esv24410 5 176427680 176428752 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19848 S 451 0 13 "" NA12006,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129 nsv883156 5 176439337 176464378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505948,nssv1510710 M 6533 0 2 FGFR4 SP54043,SP54988 nsv883157 5 176439337 176508325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509831 S 6533 0 1 FGFR4,NSD1 SP54956 nsv823351 5 176439603 176504202 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426319 S 31 1 0 FGFR4,NSD1 NA18968 nsv482093 5 176449157 176457730 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558454 S 1 1 0 FGFR4 KB1 nsv521574 5 176450403 176533637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698190 S 2026 0 1 FGFR4,NSD1 esv24424 5 176457410 176461839 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10370 S 451 0 1 FGFR4 NA18909 esv2090214 5 176464305 176464924 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889095 S 1 0 1 "" NA18507 esv27599 5 176466696 176467745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15359 S 451 0 1 "" NA18858 nsv513276 5 176467003 176469813 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626784 S 1 0 1 "" 1 esv1011107 5 176489642 176500720 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565701 S 3 0 1 NSD1 HuRef nsv521575 5 176547135 176641725 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698191 S 2026 1 0 NSD1 dgv1878e1 5 176550923 176735050 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8873,essv16970,essv14269,essv3051,essv1261,essv10759,essv1783,essv3233,essv22089,essv10245,essv17142,essv15816,essv11893,essv7617,essv20644,essv4443,essv17534,essv15138,essv16044,essv10340,essv16691,essv17251,essv12582,essv13604,essv15202,essv18831,essv9442,essv20918,esv245,essv12178,essv13897,essv8169,essv10685,essv23062,essv17296,essv10565,essv12515,essv15343,essv15478,essv18101,essv10860,essv20564,essv241,essv16434,essv14538,essv14757,essv12630,essv16268,essv23621,essv13563,essv11914,essv16848,essv14464,essv11764,essv8732 M 271 0 0 LMAN2,MXD3,NSD1,PRELID1,RAB24,RGS14 NA07056,NA11993,NA12006,NA12154,NA12751,NA12762,NA12801,NA12812,NA12892,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18508,NA18523,NA18545,NA18552,NA18854,NA18855,NA18856,NA18862,NA18871,NA18948,NA18974,NA18981,NA18995,NA18997,NA19092,NA19094,NA19098,NA19101,NA19127,NA19129,NA19139,NA19142,NA19144,NA19152,NA19159,NA19160,NA19161,NA19171,NA19194,NA19201,NA19202,NA19205,NA19206,NA19207,NA19208,NA19221,NA19223,NA19240 nsv428132 5 176550923 176735050 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450547,nssv450558,nssv450551,nssv450550,nssv450556,nssv450543,nssv450544,nssv450549,nssv450548,nssv450554,nssv450552,nssv450555,nssv450546,nssv450557,nssv450545,nssv450541 M 62 16 0 LMAN2,MXD3,NSD1,PRELID1,RAB24,RGS14 HGDP00450,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00476,HGDP00984,HGDP01087,HGDP01094,NA18498,NA19096,NA19108,NA19147,NA19225,NA19257 nsv525027 5 176569846 176601636 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701067 S 2026 1 0 NSD1 nsv515632 5 176592176 176602093 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684138,nssv664171 M 2026 2 0 NSD1 dgv6379n71 5 176659241 176891003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883161,nsv883158,nsv883160 M 6533 0 3 DBN1,DDX41,DOK3,F12,FAM193B,GRK6,LMAN2,LOC340037,MXD3,NSD1,PDLIM7,PFN3,PRELID1,PRR7,RAB24,RGS14,SLC34A1 IS37646,MS10311,MS17208 nsv883159 5 176659622 176677658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509832 S 6533 0 1 MXD3,NSD1,PRELID1,RAB24 SP54956 nsv509103 5 176668358 176774182 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619431 S 4 1 0 F12,LMAN2,MXD3,PFN3,RGS14,SLC34A1 NA10860 nsv471057 5 176669915 176829018 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545182,nssv545183 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DBN1,F12,GRK6,LMAN2,LOC340037,MXD3,PFN3,PRR7,RGS14,SLC34A1 HGDP00288,HGDP00546 esv1603852 5 176686490 176686543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149104 S 2 0 1 "" HuRef nsv819674 5 176699011 176710992 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418624 S 2 0 1 LMAN2 AK1 dgv6380n71 5 176713151 176739242 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883165,nsv883162 M 6533 0 2 RGS14 SP54988,SP55021 nsv883163 5 176713151 176818105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509833 S 6533 0 1 DBN1,F12,GRK6,LOC340037,PFN3,PRR7,RGS14,SLC34A1 SP54956 nsv883164 5 176713151 176936222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592160 S 6533 0 1 DBN1,DDX41,DOK3,F12,FAM193B,GRK6,LOC340037,PDLIM7,PFN3,PRR7,RGS14,SLC34A1 IS39233 dgv733n27 5 176717118 176829018 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462564,nsv462563 M 1557 0 2 DBN1,F12,GRK6,LOC340037,PFN3,PRR7,RGS14,SLC34A1 1780862021_A,HGDP00614 nsv5146 5 176721493 176739131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8203 S 9 0 1 RGS14 NA12156 dgv6381n71 5 176750242 176885525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883166,nsv883170 M 6533 0 4 DBN1,DDX41,DOK3,F12,FAM193B,GRK6,LOC340037,PDLIM7,PFN3,PRR7,SLC34A1 IS34235,IS35484,IS41894,MS16153 nsv883167 5 176753843 176768530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510712 S 6533 0 1 F12,PFN3,SLC34A1 SP54988 esv4214 5 176756005 176756380 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26655 S 1 0 1 Single Asian sample YH SLC34A1 YH esv1007597 5 176756063 176756251 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571992 S 3 0 1 SLC34A1 HuRef dgv6382n71 5 176756743 176766951 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883169,nsv883171,nsv883168 M 6533 0 3 F12,PFN3,SLC34A1 SP54043,SP54672,SP54725 nsv883172 5 176775080 176829018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598405 S 6533 0 1 DBN1,GRK6,LOC340037,PRR7 IS41243 dgv6383n71 5 176775080 176885525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883173,nsv883175,nsv883176,nsv883174 M 6533 0 7 DBN1,DDX41,DOK3,FAM193B,GRK6,LOC340037,PDLIM7,PRR7 IS32322,IS33504,IS33684,IS38293,IS38403,MS13770,SP54988 nsv515805 5 176792454 176829018 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700617,nssv664832,nssv684839,nssv661523 M 2026 0 4 DBN1,GRK6,LOC340037,PRR7 nsv883177 5 176800964 176936222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584784 S 6533 0 1 DBN1,DDX41,DOK3,FAM193B,GRK6,LOC340037,PDLIM7,PRR7 IS37172 nsv883178 5 176805100 176827362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508098 S 6533 0 1 DBN1,LOC340037,PRR7 SP54725 esv2822 5 176810872 176811508 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25263 S 1 0 1 Single Asian sample YH PRR7 YH esv999663 5 176811172 176811389 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581040 S 3 0 1 PRR7 HuRef nsv329248 5 176811411 176811464 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347826 M 24 PRR7 nsv329790 5 176827578 176827633 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348368 M 24 DBN1 esv1004774 5 176827579 176827634 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570144 S 3 0 1 DBN1 HuRef nsv883179 5 176844679 176859280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508331 S 6533 0 1 PDLIM7 SP54725 nsv883180 5 176844679 176869783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509834 S 6533 0 1 DOK3,PDLIM7 SP54956 nsv5147 5 176870802 176915624 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8204 S 9 0 1 DDX41,FAM193B NA12156 esv1002656 5 176875361 176883047 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563738 S 3 0 1 DDX41,FAM193B HuRef esv2630965 5 176876799 176878796 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337072 S 1 0 1 "" NA18507 nsv513277 5 176877101 176878802 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626785 S 1 0 1 "" 1 esv26970 5 176877285 176878376 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10401 S 451 2 0 "" NA18517,NA19114 nsv821029 5 176877285 176878376 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420551 S 1 0 1 "" NA10851 esv1283654 5 176877898 176878621 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151097 S 2 0 1 "" HuRef nsv5148 5 176879037 176911917 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv516 S 9 1 0 FAM193B NA19240 nsv883181 5 176911102 176967392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509835 S 6533 0 1 B4GALT7,FAM193B,TMED9 SP54956 nsv883182 5 176913601 177254662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592616 S 6533 1 0 B4GALT7,FAM153A,FAM193B,LOC202181,LOC728554,TMED9 IS39243 esv1010720 5 176932688 176950855 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564872 S 3 0 0 "" HuRef nsv5149 5 176941040 176960647 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv517,nssv4879 M 9 2 0 B4GALT7,TMED9 NA19129,NA19240 nsv883183 5 176951985 176962957 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505950 S 6533 0 1 B4GALT7,TMED9 SP54043 nsv512863 5 176994583 176995503 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625505 S 1 1 0 LOC202181 1 esv1141121 5 176995344 176995344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658392 S 2 1 0 LOC202181 HuRef esv1540070 5 176999814 176999814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702571 S 2 1 0 LOC202181 HuRef nsv519647 5 177053303 177192735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680358,nssv657352 M 2026 0 2 FAM153A esv33718 5 177068866 177101111 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100722 S 51 1 0 FAM153A 21656 nsv442969 5 177090005 177131055 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM153A nsv508389 5 177110393 177140581 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622540,nssv619968 M 4 0 2 FAM153A NA15510,NA18994 nsv5150 5 177113005 177158524 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2558,nssv3406 M 9 0 2 FAM153A NA12878,NA18555 esv25576 5 177121248 177168494 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13921,esv14318,esv14034,esv10511,esv10463 M 451 1 6 FAM153A NA06985,NA07037,NA07045,NA11894,NA12044,NA12239,NA18511 esv2422087 5 177160157 177165211 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017480,essv5142666,essv5068697,essv5155296,essv5051413,essv5121556,essv5077762,essv5104054,essv5031546,essv5059523,essv5161169,essv5131387,essv5018388,essv5049801,essv5068388,essv5047003,essv5159340,essv5124336,essv5099152,essv5039712,essv5109074,essv5008533,essv5144454,essv5076394,essv5027062,essv5135233,essv5142528,essv5114661,essv5095252,essv5038957,essv5040060,essv5031502,essv5134851,essv5011480,essv5032007,essv5153432,essv5090350,essv5149317,essv5113459,essv5082350,essv5024636,essv5023436,essv5074011,essv5093262,essv5157822,essv5128000,essv5005446,essv5058998,essv5134398,essv5042973,essv5045055,essv5012742,essv5110602,essv5042422,essv5043477,essv5133181,essv5060465,essv5093440,essv5155593,essv5056160,essv5142775,essv5091169,essv5049475,essv5079790,essv5130353,essv5030394,essv5104960,essv5047851,essv5067820,essv5155080,essv5112022,essv5152728,essv5029651,essv5145661,essv5116272,essv5069473,essv5064461,essv5020322,essv5158311,essv5051778,essv5135703,essv5068124,essv5078580,essv5150547,essv5156030,essv5053633,essv5037689,essv5011069,essv5133588,essv5135424,essv5069559,essv5100837,essv5123601,essv5060532,essv5014761,essv5004712,essv5052920,essv5135196,essv5146869,essv5029165,essv5030335,essv5060411,essv5073332,essv5103947,essv5079798,essv5025450,essv5102001,essv5036884,essv5056080,essv5024528,essv5018724,essv5028763,essv5014356,essv5011381,essv5151921,essv5053043,essv5086540,essv5058210,essv5067763,essv5036432,essv5017537,essv5056699,essv5035745,essv5082013,essv5054974,essv5158088,essv5051375,essv5044422,essv5017174,essv5096309,essv5136015,essv5096081,essv5065303,essv5116085,essv5131831,essv5070376,essv5061224,essv5012638,essv5007099,essv5008001,essv5076552,essv5116197,essv5097997,essv5147269,essv5084841,essv5120603,essv5150580,essv5050422,essv5009889,essv5109689,essv5034167,essv5032037,essv5112389,essv5051202,essv5063039,essv5107930,essv5084142,essv5063642,essv5057878,essv5142205,essv5041103,essv5114608,essv5024384,essv5015222,essv5121442,essv5135322,essv5102134,essv5030135,essv5005762,essv5140014,essv5144337,essv5026822,essv5051872,essv5019342,essv5154942,essv5087095,essv5125276,essv5146436,essv5111503,essv5037106,essv5086887,essv5013743,essv5091445,essv5010122,essv5090640,essv5071689,essv5081848,essv5137562,essv5016499,essv5066948,essv5066201,essv5094956,essv5043045,essv5058976,essv5103257,essv5008763,essv5082620,essv5032752,essv5150163,essv5112903,essv5128767,essv5158617,essv5033159,essv5059828,essv5010846,essv5013290,essv5147330,essv5093369,essv5155139,essv5043089,essv5049366,essv5023311,essv5157635,essv5055367,essv5073760,essv5062301,essv5072604,essv5105103,essv5045163,essv5037915,essv5101003,essv5026777,essv5154561,essv5023072,essv5045916,essv5124862,essv5157605,essv5066735,essv5036391,essv5082115,essv5005550,essv5033060,essv5036641,essv5140104,essv5063810,essv5095280,essv5021304,essv5145750,essv5079253,essv5143449,essv5010086,essv5022907,essv5127760,essv5140675,essv5110554,essv5012166,essv5149985,essv5014850,essv5159215,essv5052066,essv5134131,essv5100336,essv5087983,essv5154993,essv5021775,essv5075505,essv5160757,essv5102984,essv5065738,essv5095507,essv5093608,essv5090845,essv5059783,essv5003030,essv5124927,essv5017037,essv5150251,essv5055906,essv5045947,essv5041315,essv5118563,essv5007432,essv5016313,essv5103638,essv5145484,essv5102249,essv5155903,essv5092522,essv5066875,essv5077512,essv5120426,essv5120993,essv5020724,essv5099776,essv5089527,essv5026017,essv5055334,essv5119739,essv5012299,essv5020870,essv5026547,essv5158595,essv5009410,essv5158444,essv5024204,essv5069392,essv5142261,essv5011821,essv5040506,essv5135644,essv5014757,essv5103345,essv5010245,essv5034637,essv5087819,essv5068746,essv5150736,essv5131667,essv5076023,essv5110875,essv5025372,essv5036903,essv5017300,essv5079465,essv5007215,essv5096602,essv5107429,essv5021047,essv5079784,essv5056754,essv5055004,essv5128060,essv5138413,essv5142282,essv5102993,essv5036306,essv5119473,essv5141657,essv5037453,essv5006092,essv5109052,essv5102341,essv5096396,essv5030170,essv5046878,essv5009221,essv5105916,essv5016753,essv5026415,essv5028910,essv5084768,essv5076285,essv5137721,essv5083478,essv5093719,essv5077374,essv5157177,essv5152826,essv5068503,essv5060061,essv5149591,essv5127149,essv5095266,essv5154228,essv5135805,essv5131145,essv5122425,essv5021795,essv5051255,essv5046418,essv5114117,essv5063426,essv5133488,essv5084721,essv5160967,essv5001999,essv5109831,essv5129099,essv5153645,essv5100664,essv5017757,essv5112367,essv5073062,essv5124952,essv5028911,essv5020641,essv5013073,essv5133915,essv5019256,essv5012528,essv5134382,essv5051218,essv5145965,essv5113566,essv5041111,essv5064748,essv5052330,essv5105502,essv5030559,essv5046009,essv5019134,essv5021005,essv5068807,essv5100879,essv5132907,essv5151391,essv5100097,essv5151014,essv5088621,essv5061861,essv5085361,essv5054486,essv5120890,essv5137189,essv5117850,essv5092638,essv5032133,essv5048922,essv5020997,essv5160567,essv5050068,essv5052561,essv5062325,essv5058958,essv5064982,essv5101309,essv5015620,essv5004828,essv5013846,essv5154928,essv5033490,essv5148844,essv5023545,essv5131651,essv5153366,essv5098286,essv5066772,essv5133376,essv5147039,essv5024684,essv5123728,essv5087467,essv5138439,essv5039337,essv5096987,essv5083660,essv5074259,essv5103179,essv5011151,essv5090577,essv5138673,essv5109570,essv5053160,essv5063530,essv5153768,essv5138347,essv5035693,essv5101856,essv5031427,essv5102026,essv5147622,essv5137439,essv5126684,essv5160746,essv5023556,essv5089708,essv5049841,essv5108067,essv5010641,essv5146882,essv5008579,essv5143479,essv5152162,essv5016616,essv5009178,essv5073145,essv5024541,essv5093624,essv5125349,essv5012718,essv5017209,essv5051343,essv5083920,essv5074301,essv5046020,essv5131396,essv5012714,essv5093869,essv5091457,essv5097989,essv5022067,essv5148672,essv5067286,essv5144958,essv5031401,essv5028740,essv5031488,essv5103454,essv5014967,essv5007891,essv5088730,essv5042485,essv5011328,essv5102612,essv5053314,essv5057685,essv5038038,essv5080385,essv5092450,essv5105730,essv5076383,essv5112194,essv5093270,essv5031975,essv5099746,essv5130309,essv5048538,essv5106500,essv5009112,essv5026524,essv5142105,essv5078758,essv5034506,essv5133633,essv5067893,essv5132229,essv5038563,essv5102306,essv5133594,essv5071794,essv5053991,essv5082237,essv5072931,essv5127478,essv5057791,essv5157449,essv5133531,essv5006231,essv5015324,essv5066993,essv5087214,essv5071219,essv5103554,essv5028759,essv5155030,essv5139602,essv5149505,essv5123131,essv5056785,essv5075114,essv5091019,essv5119678,essv5068000,essv5082850,essv5110298,essv5141575,essv5136498,essv5084554,essv5056395,essv5107814,essv5051638,essv5104144,essv5026755,essv5010637,essv5150671,essv5147652,essv5058501,essv5156695,essv5043927,essv5064579,essv5093512,essv5047591,essv5101296,essv5006553,essv5029275,essv5088520,essv5089633,essv5116811,essv5126615,essv5124026,essv5056505,essv5112151,essv5017390,essv5036072,essv5044289,essv5102326,essv5129053,essv5129060,essv5006758,essv5072493,essv5151207,essv5048847,essv5106589,essv5146307,essv5023796,essv5068741,essv5129293,essv5142298,essv5032010,essv5142233,essv5034708,essv5126453,essv5138715,essv5072447,essv5118621,essv5064315,essv5115121,essv5011423,essv5137671,essv5089760,essv5157179,essv5157234,essv5065543,essv5132305,essv5111034,essv5127174,essv5043062,essv5020156,essv5019854,essv5155858,essv5064295,essv5095876,essv5045544,essv5160714,essv5129808,essv5129548,essv5149038,essv5110390,essv5121644,essv5103396,essv5057380,essv5070454,essv5092050,essv5038974,essv5140117,essv5157109,essv5004472,essv5147083,essv5039436,essv5068065,essv5049757,essv5053456,essv5034867,essv5074835,essv5143100,essv5146906,essv5031020,essv5045496,essv5044455,essv5109964,essv5032569,essv5019209,essv5064084,essv5025904,essv5056947,essv5055518,essv5132694,essv5034131,essv5010989,essv5006729,essv5007870,essv5016640,essv5136661,essv5137149,essv5028791,essv5122559,essv5024255,essv5065187,essv5121216,essv5110884,essv5140234,essv5046990,essv5029413,essv5152917,essv5034130,essv5056448,essv5099796,essv5139338,essv5100629,essv5139044,essv5158676,essv5140842,essv5014486,essv5068243,essv5013072,essv5058474,essv5129582,essv5057260,essv5018666,essv5093200,essv5047276,essv5025206,essv5050491,essv5057719,essv5150261,essv5127943,essv5071974,essv5083010,essv5050353,essv5108280,essv5064257,essv5109402,essv5117800,essv5031023,essv5127627,essv5112862,essv5054138,essv5022667,essv5094329,essv5118540,essv5087951,essv5038220,essv5071190,essv5142359,essv5113493,essv5146281,essv5004139,essv5118523,essv5113129,essv5099022,essv5028313,essv5023197,essv5144167,essv5046648,essv5133347,essv5078763,essv5122311,essv5083926,essv5081362,essv5133521,essv5017074,essv5086120,essv5025914,essv5011260,essv5099510,essv5140176,essv5142571,essv5152341,essv5158528,essv5122973,essv5067532,essv5113699,essv5061470,essv5126818,essv5055392,essv5102043,essv5081496,essv5154581,essv5106499,essv5050402,essv5110692,essv5087229,essv5133499,essv5060168,essv5005190,essv5026924,essv5057115,essv5121503,essv5152240,essv5027810,essv5035260,essv5121532,essv5061588,essv5082486,essv5159588,essv5108798,essv5034908,essv5090548,essv5026181,essv5087481,essv5076337,essv5005391,essv5103112,essv5112256,essv5075209,essv5048911,essv5029958,essv5047933,essv5052123,essv5121720,essv5113880,essv5085350,essv5116710,essv5140048,essv5080883,essv5017355,essv5126630,essv5011845,essv5046655,essv5142944,essv5022436,essv5082444,essv5142475,essv5087790,essv5071402,essv5128482,essv5065572,essv5082322,essv5090038,essv5135791,essv5032505,essv5024552,essv5107428,essv5018274,essv5071390,essv5160078,essv5146034,essv5156595,essv5002714,essv5152949,essv5117245,essv5099849,essv5137616,essv5121263,essv5028997,essv5059203,essv5156355,essv5108782,essv5103852,essv5156979,essv5139703,essv5021962,essv5069499,essv5136138,essv5058193,essv5145879,essv5147193,essv5127503,essv5143974,essv5015330,essv5010731,essv5034839,essv5086006,essv5144847,essv5153660,essv5126932,essv5109548,essv5100516,essv5029747,essv5026031,essv5160392,essv5028290,essv5160929,essv5031527,essv5065196,essv5091263,essv5145401,essv5040649,essv5084114,essv5153418,essv5074451,essv5041375,essv5118784,essv5110517,essv5049988,essv5031729,essv5108551,essv5060367,essv5074003,essv5120015,essv5105184,essv5089863,essv5152091,essv5071923,essv5036893,essv5045103,essv5151004,essv5098203,essv5034543,essv5126479,essv5104840,essv5051562,essv5027286,essv5072998,essv5096312,essv5065234,essv5122852,essv5032187,essv5077310,essv5019992,essv5019265,essv5126360,essv5140899,essv5154316,essv5150193,essv5097663,essv5009291,essv5086491,essv5119209,essv5100742,essv5014871,essv5027610,essv5113444,essv5053193,essv5122493,essv5006373,essv5053983,essv5003973,essv5135135,essv5002237,essv5012444,essv5008580,essv5033599,essv5079743,essv5048592,essv5052839,essv5054515,essv5046862,essv5039444,essv5085766,essv5018200,essv5132492,essv5092817,essv5067615,essv5041317,essv5077041,essv5093035,essv5113911,essv5150910,essv5088218,essv5061049,essv5140550,essv5157438,essv5058331,essv5055611,essv5004958,essv5154558,essv5097928,essv5093374,essv5082420,essv5108246,essv5086713,essv5133980,essv5105506,essv5108761,essv5154738,essv5142397,essv5086477,essv5144775,essv5115168,essv5159145,essv5102377,essv5023647,essv5020647,essv5074107,essv5100943,essv5060091,essv5062127,essv5061374,essv5024039,essv5140357,essv5107209,essv5066171,essv5155877,essv5124873,essv5036129,essv5030015,essv5117586,essv5063899,essv5107068,essv5005457,essv5082443,essv5121244,essv5064251,essv5033527,essv5036059,essv5130287,essv5150720,essv5004187,essv5149853,essv5102093,essv5088705,essv5087986,essv5127284,essv5137838,essv5074633,essv5015605,essv5081724,essv5160672,essv5004951,essv5028397,essv5123558,essv5154474,essv5046392,essv5140157,essv5108568,essv5009246,essv5133455,essv5062395,essv5047010,essv5051496,essv5101622,essv5147618,essv5040860,essv5071623,essv5029343,essv5147589,essv5007970,essv5031555,essv5152588,essv5120936,essv5044857,essv5146636,essv5006125,essv5044418,essv5009891,essv5037509,essv5080719,essv5141371,essv5096582,essv5091961,essv5062181,essv5121461,essv5002585,essv5062716,essv5088066,essv5126204,essv5038433,essv5128622,essv5044875,essv5090691,essv5116972,essv5023476,essv5135900,essv5006903,essv5022950,essv5014452,essv5015871,essv5159839,essv5098132,essv5046163,essv5018213,essv5044830 M 1184 0 1023 "" 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NA19761,NA19762,NA19763,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21300,NA21303,NA21307,NA21308,NA21309,NA21311,NA21313,NA21314,NA21316,NA21318,NA21336,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21371,NA21379,NA21381,NA21385,NA21386,NA21387,NA21390,NA21391,NA21400,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21421,NA21423,NA21424,NA21425,NA21435,NA21436,NA21438,NA21439,NA21441,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21473,NA21475,NA21476,NA21478,NA21480,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21576,NA21578,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21733,NA21738,NA21740,NA21741,NA21768,NA21776,NA21825,NA21826 nsv442970 5 177160157 177165211 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv509104 5 177160847 177230267 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623462,nssv620840,nssv619432 M 4 3 0 "" NA10860,NA15510,NA18994 nsv883184 5 177243649 177420887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503456 S 6533 1 0 FAM153C,LOC728554,PROP1 SP52058 nsv509105 5 177243954 177368462 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623463,nssv619433 M 4 2 0 FAM153C,PROP1 NA10860,NA18994 nsv5151 5 177259221 177295919 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3407,nssv519 M 9 2 0 "" NA12878,NA19240 nsv883185 5 177290570 177334115 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546580 S 6533 0 1 "" MS17208 nsv521629 5 177297490 177328806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698248 S 2026 0 1 "" nsv883186 5 177308923 177482097 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538882 S 6533 1 0 FAM153C,N4BP3,PROP1 MS13800 esv23120 5 177308956 177312402 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20913 S 451 1 0 "" NA19190 nsv883187 5 177310006 177352573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561214 S 6533 1 0 PROP1 MS24877 esv2053928 5 177310729 177311051 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528317 S 1 0 1 "" NA18507 nsv517302 5 177316388 177332854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669021,nssv656219,nssv693791,nssv664397,nssv661861,nssv669099,nssv679848,nssv681105,nssv654265,nssv676719,nssv668415,nssv691635,nssv663157,nssv681807,nssv669910,nssv686372,nssv692194,nssv670440,nssv700434,nssv659253,nssv657892,nssv676392,nssv689614,nssv651705,nssv661354 M 2026 0 25 "" esv23330 5 177320743 177322703 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20364 S 451 1 5 "" NA12156,NA12489,NA18505,NA18511,NA19099,NA19240 esv1765617 5 177321255 177321255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016661 S 2 1 0 "" HuRef esv991726 5 177321282 177321368 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573541 S 3 0 1 "" HuRef esv998691 5 177321771 177322291 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582326 S 3 0 1 "" HuRef esv1673757 5 177321899 177321986 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3803151 S 2 0 1 "" HuRef esv2422152 5 177322681 177334001 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019619,essv5006281,essv5088403,essv5139946,essv5156279,essv5032457,essv5007609,essv5145437,essv5069811,essv5115086,essv5024669,essv5070465,essv5132564,essv5074202,essv5136050,essv5012687,essv5053938,essv5027177,essv5114371,essv5106336,essv5121071,essv5087573,essv5082061,essv5074154,essv5078284,essv5134216,essv5056121,essv5147680,essv5054416 M 1184 0 29 "" NA19656,NA19719,NA19782,NA19784,NA20517,NA20540,NA20754,NA20801,NA20809,NA20870,NA20895,NA21297,NA21307,NA21309,NA21356,NA21359,NA21361,NA21391,NA21440,NA21486,NA21487,NA21509,NA21582,NA21620,NA21647,NA21685,NA21717,NA21719,NA21740 nsv462566 5 177323655 177332854 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538699 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00574 nsv883188 5 177323655 177376575 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525208 S 6533 1 0 FAM153C,PROP1 SP56349 nsv5152 5 177331295 177346285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4880 S 9 1 0 "" NA19129 nsv883189 5 177332854 177364887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516794 S 6533 1 0 PROP1 SP56937 esv21477 5 177338219 177340324 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15780 S 451 8 1 "" NA12489,NA15510,NA18511,NA18517,NA18861,NA18907,NA19114,NA19129,NA19190 nsv821164 5 177338219 177340324 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420552 S 1 0 1 "" NA10851 esv1300861 5 177338450 177338534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617395 S 2 0 1 "" HuRef nsv327169 5 177338453 177338994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345747 M 24 "" nsv328207 5 177338593 177338708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346785 M 24 "" esv1160479 5 177338925 177339113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865337 S 2 0 1 "" HuRef esv995117 5 177345470 177345557 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580455 S 3 0 1 "" HuRef nsv462567 5 177437627 177505533 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538700 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations N4BP3,RMND5B HGDP01363 nsv471058 5 177437627 177505533 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545184 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations N4BP3,RMND5B HGDP01363 esv28639 5 177454236 177456721 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12787 S 451 0 5 "" NA11993,NA12006,NA12044,NA12156,NA12239 nsv820685 5 177454236 177456721 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420553 S 1 0 1 "" NA10851 nsv513278 5 177454266 177456811 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626786 S 1 0 1 "" 1 esv2484773 5 177454329 177457014 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377038 S 1 0 1 "" NA18507 esv2352605 5 177454568 177455098 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619080 S 1 0 1 "" NA18507 esv994463 5 177454811 177456636 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586350 S 3 0 1 "" HuRef nsv883190 5 177464807 177552795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592161 S 6533 0 1 GMCL1P1,N4BP3,NHP2,RMND5B IS39233 nsv883191 5 177467976 177484591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510714 S 6533 0 1 N4BP3 SP54988 nsv883192 5 177467976 177496952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509836 S 6533 0 1 N4BP3,RMND5B SP54956 esv1256431 5 177523479 177523479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912143 S 2 1 0 "" HuRef nsv883193 5 177524101 177552795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588191 S 6533 0 1 GMCL1P1 IS38176 nsv883194 5 177536874 177552795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570710 S 6533 0 1 GMCL1P1 IS32322 esv1787371 5 177538708 177538708 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660642 S 2 1 0 "" HuRef nsv523636 5 177539025 177540801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699436 S 2026 0 1 "" nsv820182 5 177563532 177566797 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419521 S 2 1 0 HNRNPAB AK1 dgv6384n71 5 177587800 177623584 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883195,nsv883198,nsv883196 M 6533 0 4 AGXT2L2,COL23A1 IS30837,IS32322,IS40799,MS13770 dgv6385n71 5 177587800 177650246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883197,nsv883199,nsv883202,nsv883200 M 6533 0 5 AGXT2L2,COL23A1 IS34908,IS35484,IS39233,MS16153,MS18276 nsv527792 5 177591681 177607823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704284 S 2026 0 1 AGXT2L2,COL23A1 nsv517167 5 177597948 177607823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656846,nssv662497,nssv682333,nssv682966,nssv690245,nssv655673,nssv653911,nssv662864,nssv680021,nssv683173,nssv677177,nssv687162,nssv676239,nssv668113,nssv660216,nssv669124 M 2026 0 16 COL23A1 nsv883201 5 177597948 177679469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532393 S 6533 0 1 COL23A1 MS10769 esv5342 5 177598993 177599601 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27783 S 1 0 1 Single Asian sample YH COL23A1 YH dgv220n6 5 177599101 177599320 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv327582,nsv327806 M 24 COL23A1 nsv462568 5 177612334 177640033 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538701 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL23A1 HGDP00546 dgv6386n71 5 177615270 177728727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883206,nsv883205,nsv883203 M 6533 0 3 COL23A1 IS33684,MS10123,MS17208 dgv6387n71 5 177617288 177690370 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883207,nsv883204,nsv883208 M 6533 0 3 COL23A1 IS33504,MS10311,MS11306 esv989570 5 177621843 177637346 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563489 S 3 0 0 COL23A1 HuRef nsv883209 5 177652760 177679469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571869 S 6533 0 1 COL23A1 IS32841 esv2246259 5 177653687 177654294 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708559 S 1 0 1 COL23A1 NA18507 nsv327226 5 177653827 177654064 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345804 M 24 COL23A1 esv1002980 5 177653902 177654139 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568415 S 3 0 1 COL23A1 HuRef nsv327363 5 177653905 177654142 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345941 M 24 COL23A1 esv2333420 5 177661367 177661754 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602645 S 1 0 1 COL23A1 NA18507 nsv328155 5 177661383 177661479 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346733 M 24 COL23A1 esv2321766 5 177661417 177661909 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966708 S 1 0 1 COL23A1 NA18507 esv1755731 5 177661575 177661677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608861 S 2 0 1 COL23A1 HuRef nsv522162 5 177676378 177676986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694137 S 2026 0 1 COL23A1 nsv883210 5 177704531 177913398 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582562 S 6533 1 0 COL23A1 IS35993 nsv509106 5 177707544 177762169 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619434 S 4 1 0 COL23A1 NA10860 esv3220 5 177717646 177718405 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25661 S 1 0 1 Single Asian sample YH COL23A1 YH esv2605116 5 177718147 177718369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390883 S 1 0 1 COL23A1 NA18507 dgv6388n71 5 177720121 177752740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883211,nsv883212 M 6533 0 2 COL23A1 MS10311,MS16153 nsv462569 5 177720121 177754271 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538702 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL23A1 HGDP00402 nsv513279 5 177722938 177725076 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626788 S 1 0 1 COL23A1 1 nsv883213 5 177744360 177880377 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596569 S 6533 1 0 COL23A1 IS40570 nsv436480 5 177751478 177757111 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466256 S 2 0 1 Samples from several populations that are part of the HapMap project. COL23A1 NA18505 esv1008487 5 177753432 177756633 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563702 S 3 0 1 COL23A1 HuRef esv2636926 5 177754124 177757088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161823 S 1 0 1 COL23A1 NA18507 nsv513280 5 177754451 177756677 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626789 S 1 0 1 COL23A1 1 esv22470 5 177754471 177756401 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13437 S 451 23 0 COL23A1 NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18523,NA18858,NA18861,NA18907,NA18916,NA19114,NA19147,NA19240 dgv155e180 5 177754681 177756471 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009035,esv1005591 M 3 0 1 COL23A1 HuRef esv24398 5 177780511 177785219 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15459 S 451 0 1 COL23A1 NA18508 nsv526499 5 177780715 177785188 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702808 S 2026 0 1 COL23A1 nsv441978 5 177781037 177785186 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 COL23A1 nsv462570 5 177793060 177942751 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538703 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL23A1 HGDP00945 esv4689 5 177807693 177808172 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27130 S 1 0 1 Single Asian sample YH COL23A1 YH nsv883214 5 177808915 177979823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504563 S 6533 1 0 CLK4,COL23A1 SP52590 nsv462571 5 177831256 177894466 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538704 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL23A1 HGDP00479 nsv471059 5 177852557 177898302 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545185 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL23A1 HGDP00479 esv2429795 5 177883919 177885515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299757 S 1 0 1 COL23A1 NA18507 esv4301 5 177884529 177885484 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26742 S 1 0 1 Single Asian sample YH COL23A1 YH esv1948375 5 177884545 177885439 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708892 S 1 0 1 COL23A1 NA18507 esv22927 5 177884619 177885573 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21277 S 451 1 5 COL23A1 NA18505,NA18517,NA18907,NA18909,NA19099,NA19240 nsv820848 5 177884619 177885573 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420554 S 1 0 1 COL23A1 NA10851 nsv327487 5 177884627 177884686 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346065 M 24 COL23A1 nsv329434 5 177884627 177885046 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348012 M 24 COL23A1 esv6640 5 177884655 177885319 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29081 S 1 0 1 COL23A1 SJK esv1763768 5 177885297 177885297 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298145 S 2 1 0 COL23A1 HuRef nsv883215 5 177894466 177913398 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596570 S 6533 1 0 COL23A1 IS40570 nsv527857 5 177896923 177899527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704355 S 2026 0 1 COL23A1 nsv509107 5 177910798 177950760 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619435,nssv623464 M 4 2 0 COL23A1 NA10860,NA18994 nsv5153 5 177932661 177955808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6042,nssv2559,nssv11116 M 9 3 0 COL23A1 NA12156,NA15510,NA18555 nsv883216 5 177934931 177957693 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509837 S 6533 0 1 COL23A1 SP54956 esv988470 5 177942509 177946037 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565083 S 3 1 0 COL23A1 HuRef nsv280 5 177942564 177952843 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv280 S 1 1 0 COL23A1 NA15510 esv1225849 5 177945301 177945301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766707 S 2 1 0 COL23A1 HuRef esv2565934 5 177945332 177945901 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303727 S 1 1 0 COL23A1 NA18507 nsv5155 5 178007706 178065405 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2560,nssv3408,nssv8205 M 9 0 3 "" NA12156,NA12878,NA18555 nsv883217 5 178032364 178125687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504564 S 6533 1 0 AACSP1,ZNF354A SP52590 nsv499214 5 178041667 178046023 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585971 S 9 0 1 "" esv22383 5 178041781 178045925 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16163,esv17892 M 451 29 1 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12044,NA12287,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820344 5 178041781 178046359 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420555 S 1 0 1 "" NA10851 nsv442971 5 178042581 178045769 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514337 5 178044112 178045664 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627785 S 1414 0 1 "" esv2594056 5 178050370 178052268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284230 S 1 0 1 "" NA18507 esv1006627 5 178050897 178052242 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565723 S 3 0 1 "" HuRef esv1707611 5 178050912 178051876 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971126 S 2 0 1 "" HuRef esv23214 5 178051113 178051648 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14546 S 451 1 0 "" NA19190 esv992083 5 178059421 178059421 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579876 S 3 1 0 "" HuRef nsv327766 5 178059423 178059423 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346344 M 24 "" esv1483835 5 178059544 178059544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982943 S 2 1 0 "" HuRef nsv509108 5 178103153 178166062 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619436 S 4 1 0 AACSP1 NA10860 esv2575294 5 178115308 178115871 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272237 S 1 1 0 "" NA18507 esv26668 5 178150826 178153262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12687 S 451 0 2 "" NA12414,NA19240 nsv883218 5 178152461 178281997 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504565 S 6533 1 0 ZFP2,ZNF354B SP52590 nsv510008 5 178182891 178188891 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623993,nssv618225 M 4 0 2 "" CHM,NA18994 nsv820511 5 178191212 178192988 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420556 S 1 0 1 "" NA10851 esv26068 5 178191212 178198773 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12110,esv18838 M 451 0 7 "" NA06985,NA11894,NA12156,NA12414,NA12878,NA18909,NA19114 nsv462574 5 178202288 178245684 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538706 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF354B HGDP00286 nsv823352 5 178212231 178229229 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426688 S 31 1 0 ZNF354B AK6 nsv819936 5 178278419 178283846 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419707 S 2 1 0 ZFP2 AK1 dgv987n67 5 178278482 178284305 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823354,nsv823355 M 31 2 0 ZFP2 AK4,NA18537 nsv821324 5 178278482 178286191 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420557 S 1 0 1 ZFP2 NA10851 nsv5156 5 178279431 178299673 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4881 S 9 0 1 ZFP2 NA19129 esv27557 5 178280977 178285795 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12223 S 451 34 0 ZFP2 NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240 nsv328942 5 178316281 178317013 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347520 M 24 ZNF454 nsv525129 5 178318191 178322843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701197 S 2026 0 1 ZNF454 nsv823356 5 178322041 178323700 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421731,nssv1424231,nssv1440369,nssv1438855,nssv1427513,nssv1441079,nssv1422623,nssv1432065,nssv1440129 M 31 0 9 ZNF454 AK20,AK8,NA18547,NA18552,NA18564,NA18582,NA18969,NA18973,NA18997 dgv6389n71 5 178322843 178386724 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883220,nsv883219 M 6533 2 0 GRM6,ZNF454,ZNF879 MS11284,MS23258 dgv364n21 5 178341891 178348543 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527183,nsv516324 M 2026 0 15 GRM6 nsv883221 5 178343144 178386724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536676 S 6533 1 0 GRM6,ZNF879 MS12895 nsv510009 5 178423265 178429265 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623994,nssv618226 M 4 0 2 ZNF354C CHM,NA18994 esv25980 5 178448176 178449149 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20460 S 451 0 3 "" NA12287,NA18505,NA18517 esv6465 5 178448286 178448387 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28906 S 1 1 0 "" SJK nsv883222 5 178473581 178528476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538602 S 6533 0 1 ADAMTS2 MS13770 nsv883223 5 178509237 178563051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584124 S 6533 0 1 ADAMTS2 IS36876 nsv509109 5 178534106 178608002 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619437 S 4 1 0 ADAMTS2 NA10860 nsv328622 5 178534330 178534397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347200 M 24 ADAMTS2 esv1300070 5 178534561 178534629 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328432 S 2 0 1 ADAMTS2 HuRef dgv6390n71 5 178537071 178577916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883225,nsv883226,nsv883224 M 6533 0 4 ADAMTS2 IS30197,IS33162,IS39233,MS11726 nsv883227 5 178537071 178592297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530525 S 6533 0 1 ADAMTS2 MS10311 dgv6391n71 5 178537071 178745813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883231,nsv883228 M 6533 0 2 ADAMTS2 MS16153,MS17208 esv988467 5 178546342 178554853 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564179 S 3 0 1 ADAMTS2 HuRef dgv6392n71 5 178547473 178580975 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883230,nsv883229 M 6533 0 2 ADAMTS2 MS10769,MS18276 nsv830558 5 178556997 178738210 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445157 S 95 0 1 ADAMTS2 nsv883232 5 178559043 178738218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529650 S 6533 1 0 ADAMTS2 MS10098 esv2007859 5 178573553 178574036 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837746 S 1 0 1 ADAMTS2 NA18507 nsv327470 5 178573765 178573914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346048 M 24 ADAMTS2 nsv329044 5 178577421 178577421 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347622 M 24 ADAMTS2 nsv328920 5 178588859 178589006 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347498 M 24 ADAMTS2 dgv1879e1 5 178593872 178894478 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2754,essv768,essv3426 M 271 0 0 ADAMTS2 NA18956,NA19000 dgv1880e1 5 178593872 178970135 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv892,esv692 M 271 0 0 ADAMTS2,RUFY1 NA19000 nsv883233 5 178607671 178679053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549681 S 6533 0 1 ADAMTS2 MS18276 nsv883234 5 178619044 178661436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573784 S 6533 0 1 ADAMTS2 IS33504 esv2159438 5 178636731 178637165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959007 S 1 0 1 ADAMTS2 NA18507 esv27894 5 178636986 178637798 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13552 S 451 2 0 ADAMTS2 NA18907,NA19225 dgv6393n71 5 178651970 178806697 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883235,nsv883239,nsv883246 M 6533 4 0 ADAMTS2 MS13641,MS18392,SP52439,SP56128 nsv883236 5 178653574 178707466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530526 S 6533 0 1 ADAMTS2 MS10311 dgv6394n71 5 178653574 178877013 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883242,nsv883237,nsv883243,nsv883240,nsv883241,nsv883255,nsv883248,nsv883247,nsv883250,nsv883254,nsv883249,nsv883252,nsv883253,nsv883251 M 6533 23 0 ADAMTS2 IS37915,MS10065,MS10126,MS10948,MS14157,MS15220,MS15628,MS16325,MS17359,MS25303,SP50082,SP50118,SP50177,SP51167,SP52648,SP54477,SP55509,SP55514,SP56106,SP56307,SP56370,SP81403,SP81513 dgv210e55 5 178653574 178894316 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34254,esv34709 M 771 2 0 ADAMTS2 NA18956,NA19000 dgv6395n71 5 178654962 178728748 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883244,nsv883238 M 6533 2 0 ADAMTS2 MS15838,SP55318 nsv883245 5 178657333 178760465 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500736 S 6533 1 0 ADAMTS2 SP50723 nsv433375 5 178661436 178868271 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463256 S 9 1 0 Samples from several populations that are part of the HapMap project. ADAMTS2 NA18956 dgv734n27 5 178661436 178877013 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462580,nsv462584,nsv462579,nsv462582,nsv462581 M 1557 5 0 ADAMTS2 HGDP00103,HGDP00791,HGDP01203,HGDP01228,HGDP01349 nsv471061 5 178661436 178877013 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545186 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADAMTS2 HGDP01228 nsv441979 5 178662194 178863912 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ADAMTS2 esv991289 5 178672912 178673329 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567610 S 3 0 1 ADAMTS2 HuRef esv1695463 5 178672992 178673070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276678 S 2 0 1 ADAMTS2 HuRef nsv328326 5 178673131 178673212 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346904 M 24 ADAMTS2 nsv328359 5 178674846 178674846 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346937 M 24 ADAMTS2 nsv819099 5 178686534 178688377 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419339 S 2 0 1 ADAMTS2 AK1 nsv328099 5 178697591 178697591 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346677 M 24 ADAMTS2 nsv883257 5 178745813 178806697 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542723 S 6533 1 0 "" MS15838 dgv6396n71 5 178745813 178811475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883259,nsv883256 M 6533 0 2 "" MS11306,MS18276 nsv5157 5 178755968 178787453 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6043 S 9 0 1 "" NA12156 nsv883258 5 178761460 178793956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575027 S 6533 0 1 "" IS33684 nsv883260 5 178761460 178894316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546583 S 6533 0 1 "" MS17208 nsv7374 5 178767451 178862118 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2562 S 9 0 0 "" NA18555 nsv883261 5 178769021 178811475 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512181 S 6533 1 0 "" SP55318 nsv513281 5 178770531 178772701 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626790 S 1 0 1 "" 1 esv2603516 5 178770757 178773197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335491 S 1 0 1 "" NA18507 esv29818 5 178771357 178773143 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11429,esv14199 M 451 1 4 "" NA07037,NA12878,NA18523,NA19114,NA19190 esv4938 5 178789162 178789728 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27379 S 1 0 1 Single Asian sample YH "" YH esv23772 5 178789179 178789669 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14756 S 451 1 0 "" NA18858 nsv330173 5 178789180 178789351 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348751 M 24 "" nsv883262 5 178793956 178877013 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501289 S 6533 1 0 "" SP50723 nsv883263 5 178802939 178831926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598170 S 6533 0 1 "" IS41317 nsv522945 5 178814151 178831926 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698610 S 2026 0 1 "" dgv6397n71 5 178820088 178869328 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883264,nsv883265 M 6533 3 0 "" MS18392,SP52439,SP55318 nsv883266 5 178848390 178869328 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515165 S 6533 1 0 "" SP56128 dgv6398n71 5 178858164 178883712 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883267,nsv883268 M 6533 0 2 "" IS33684,IS41410 nsv516854 5 178869328 178877013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654452,nssv691396 M 2026 0 2 "" nsv10784 5 178874878 178877345 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15741,nssv14971 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA19240 esv1720934 5 178876512 178876563 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759649 S 2 0 1 "" HuRef nsv5158 5 178879497 178901083 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8206 S 9 0 1 "" NA12156 dgv6399n71 5 178883712 178964201 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883271,nsv883272,nsv883269 M 6533 3 0 RUFY1 MS13177,SP56013,SP81383 nsv883270 5 178883712 179282993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585839 S 6533 0 1 C5orf45,C5orf60,CANX,CBY3,HNRNPH1,LTC4S,MAML1,MGAT4B,MIR1229,RUFY1,SQSTM1,TBC1D9B IS37646 nsv5159 5 178937816 178968345 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2563 S 9 1 0 RUFY1 NA18555 nsv7375 5 178955375 179055752 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2565,nssv3409,nssv4883,nssv521,nssv9679,nssv6044,nssv9680,nssv10483,nssv10484,nssv11118,nssv11117,nssv6045,nssv9422,nssv9421,nssv520,nssv4882,nssv2564 M 9 0 0 C5orf60,CBY3,HNRNPH1,RUFY1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv281 5 178962158 179011175 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv281 S 1 0 0 C5orf60,HNRNPH1,RUFY1 NA15510 nsv830560 5 178971818 179108364 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445159,nssv1445158,nssv1445160,nssv1445161 M 95 0 4 C5orf60,CANX,CBY3,HNRNPH1,MAML1 nsv883273 5 178977748 179019439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501113,nssv1509838 M 6533 0 2 C5orf60,HNRNPH1 SP51109,SP54956 nsv823357 5 178978924 178990799 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426689 S 31 1 0 HNRNPH1 AK6 esv1005618 5 178992483 179022029 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565755 S 3 0 0 C5orf60 HuRef nsv10785 5 178994223 178995174 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14463,nssv15583,nssv14286,nssv13577,nssv13682,nssv13875 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18504,NA18537,NA18563 nsv499095 5 178996915 179014874 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585556 S 9 0 0 C5orf60 esv1419350 5 178997079 179016954 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4143315 S 2 0 0 C5orf60 HuRef esv2409566 5 178999591 179000413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798312 S 1 0 1 "" NA18507 nsv823358 5 179000932 179003303 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426657 S 31 0 1 C5orf60 NA18947 esv1276980 5 179006332 179006381 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954953 S 2 0 1 "" HuRef esv33798 5 179008319 179010856 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94828 S 51 1 0 "" 21791 nsv823359 5 179011354 179013145 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432819,nssv1435105 M 31 0 2 "" NA18592,NA18942 nsv282 5 179011676 179041161 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv282 S 1 0 0 CBY3 NA15510 nsv10786 5 179016582 179017534 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14493,nssv13712,nssv13607,nssv13905,nssv15613,nssv14316 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18504,NA18537,NA18563 nsv523946 5 179024747 179026714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699793 S 2026 0 1 "" nsv5160 5 179035024 179069101 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2714 S 9 1 0 CANX,CBY3 NA18555 nsv327725 5 179052940 179053073 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346303 M 24 "" nsv823360 5 179092106 179092612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429071 S 31 1 0 MAML1 AK12 nsv469579 5 179117437 179292797 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649693 M 265 0 1 Samples from several populations that are part of the HapMap project. C5orf45,LTC4S,MAML1,MGAT4B,MIR1229,SQSTM1,TBC1D9B dgv6400n71 5 179119003 179282993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883276,nsv883277,nsv883274 M 6533 0 5 C5orf45,LTC4S,MAML1,MGAT4B,MIR1229,SQSTM1,TBC1D9B IS33504,IS35007,IS41894,MS13770,MS17208 nsv518964 5 179126204 179159892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696431 S 2026 0 1 LTC4S,MAML1,MGAT4B,MIR1229 nsv883275 5 179126204 179200389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543454 S 6533 0 1 C5orf45,LTC4S,MAML1,MGAT4B,MIR1229,SQSTM1 MS16153 nsv823361 5 179145930 179183849 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432066 S 31 0 1 LTC4S,MGAT4B,MIR1229,SQSTM1 AK20 nsv883278 5 179147424 179171400 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508152,nssv1510715,nssv1499122 M 6533 0 3 LTC4S,MGAT4B,MIR1229,SQSTM1 SP50159,SP54725,SP54988 dgv6401n71 5 179147424 179183106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883279,nsv883281,nsv883284 M 6533 0 3 LTC4S,MGAT4B,MIR1229,SQSTM1 SP51109,SP54956,SP55021 dgv6402n71 5 179152616 179171400 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883280,nsv883285 M 6533 0 3 LTC4S,MGAT4B,MIR1229,SQSTM1 SP54043,SP54593,SP54967 dgv6403n71 5 179153244 179164287 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883282,nsv883283 M 6533 0 3 LTC4S,MGAT4B,MIR1229 SP54684,SP54782,SP55019 esv988291 5 179165682 179173343 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565403 S 3 0 1 MGAT4B,SQSTM1 HuRef nsv823362 5 179222460 179223019 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432067 S 31 0 1 TBC1D9B AK20 nsv883286 5 179223451 179246262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500711 S 6533 0 1 TBC1D9B SP50159 esv4887 5 179231329 179231863 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27328 S 1 0 1 Single Asian sample YH TBC1D9B YH esv990502 5 179231467 179231607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568251 S 3 0 1 TBC1D9B HuRef nsv327239 5 179231660 179231800 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv345817 M 24 TBC1D9B nsv5161 5 179277706 179311695 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3411 S 9 1 0 "" NA12878 nsv830561 5 179298243 179469618 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445163 S 95 0 1 MIR340,RASGEF1C,RNF130 esv268817 5 179301749 179301834 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517037,essv2518481,essv2517946,essv2517593,essv2516202,essv2516874,essv2519071,essv2515249,essv2518363 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12287,NA12872,NA12878,NA12891,NA12892,NA19141,NA19238,NA19240 esv273816 5 179301754 179301851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579215,essv2579593 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1416824 5 179301791 179301791 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017853 S 2 1 0 "" HuRef esv2222166 5 179455580 179456034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750402 S 1 0 1 "" NA18507 nsv883287 5 179459395 179517384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546585 S 6533 0 1 RASGEF1C MS17208 dgv1881e1 5 179467083 179662550 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17005,esv10 M 271 0 0 GFPT2,MAPK9,RASGEF1C NA19144 nsv883288 5 179470333 179541262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530527 S 6533 0 1 RASGEF1C MS10311 esv2084548 5 179472740 179473220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869022 S 1 0 1 RASGEF1C NA18507 esv1492604 5 179472798 179472874 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166281 S 2 0 1 RASGEF1C HuRef esv1357659 5 179473006 179473139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4168231 S 2 0 1 RASGEF1C HuRef nsv830562 5 179487919 179555047 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445168,nssv1445167,nssv1445164,nssv1445166,nssv1445165,nssv1445175,nssv1445170,nssv1445169,nssv1445174,nssv1445171,nssv1445172 M 95 0 11 RASGEF1C nsv512864 5 179494382 179494470 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625506 S 1 1 0 RASGEF1C 1 esv2591777 5 179494415 179494781 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393015 S 1 1 0 RASGEF1C NA18507 nsv525160 5 179530253 179544319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701234 S 2026 0 1 RASGEF1C nsv883289 5 179530253 179572491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561869 S 6533 0 1 RASGEF1C MS25269 nsv528625 5 179551567 179558236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705255 S 2026 0 1 RASGEF1C nsv883290 5 179644666 179751474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543455 S 6533 0 1 GFPT2,MAPK9 MS16153 nsv823363 5 179645947 179646513 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438165 S 31 0 1 MAPK9 NA18951 nsv830563 5 179650299 179831215 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445176 S 95 0 1 GFPT2,MAPK9 nsv10787 5 179650330 179664994 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14918,nssv13854,nssv13897 M 31 3 0 Samples from several populations that are part of the HapMap project. GFPT2,MAPK9 NA11830,NA12155,NA18975 esv2280993 5 179656295 179656703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933030 S 1 0 1 "" NA18507 esv2654245 5 179656380 179656461 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281552 S 1 0 1 "" NA18507 esv1717402 5 179659626 179659626 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591771 S 2 1 0 "" HuRef nsv883291 5 179688165 179751474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546586,nssv1530528 M 6533 0 2 GFPT2 MS10311,MS17208 nsv524857 5 179740232 179754051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700860 S 2026 0 1 "" nsv513282 5 179779734 179781670 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626791 S 1 0 1 "" 1 esv1516353 5 179780042 179781262 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805759 S 2 0 1 "" HuRef nsv509110 5 179784762 179870281 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619438 S 4 1 0 CNOT6 NA10860 nsv830564 5 179800000 179942702 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445177 S 95 1 0 CNOT6 nsv519380 5 179875001 179884180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655762,nssv700855,nssv684924 M 2026 0 3 CNOT6 esv1078210 5 179890740 179890834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739672 S 2 0 1 CNOT6 HuRef esv991928 5 179894417 179894514 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571443 S 3 0 1 CNOT6 HuRef esv998085 5 179894441 179894685 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577683 S 3 0 1 CNOT6 HuRef esv1787252 5 179894579 179894677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309693 S 2 0 1 CNOT6 HuRef nsv823366 5 179927364 179927831 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421733,nssv1422624 M 31 0 2 CNOT6 NA18552,NA18997 nsv509111 5 179936985 180014470 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620841,nssv619439 M 4 2 0 CNOT6,FLT4,SCGB3A1 NA10860,NA15510 dgv6404n71 5 179943245 180006854 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883292,nsv883293 M 6533 0 3 FLT4,SCGB3A1 IS33684,IS37646,MS17208 dgv6405n71 5 179943245 180034832 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883295,nsv883294 M 6533 0 2 FLT4,SCGB3A1 MS10311,MS16153 nsv462585 5 179963737 180002458 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538712 S 1557 0 1 FLT4 1780862300_A nsv883296 5 179965898 180002458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564419 S 6533 1 0 FLT4 IS30210 nsv528843 5 179965898 180006854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705520 S 2026 0 1 FLT4 nsv883297 5 179965898 180026648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592164 S 6533 0 1 FLT4 IS39233 esv1734970 5 179973900 179973900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670220 S 2 1 0 FLT4 HuRef nsv528522 5 179974268 179996349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705132 S 2026 0 1 FLT4 esv27625 5 179974371 179978257 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15265,esv16008,esv14986 M 451 4 2 FLT4 NA07045,NA12239,NA12489,NA15510,NA18907,NA19225 nsv328308 5 179974922 179974979 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv346886 M 24 FLT4 esv1125232 5 179975077 179975077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344596 S 2 1 0 FLT4 HuRef esv1677986 5 179975183 179975183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033612 S 2 1 0 FLT4 HuRef esv1000883 5 179975856 179978027 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586532 S 3 0 1 FLT4 HuRef nsv820663 5 179976827 179978257 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420559 S 1 0 1 FLT4 NA10851 nsv883298 5 179980018 180014372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549683 S 6533 0 1 FLT4 MS18276 nsv522563 5 179984593 179996349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705946 S 2026 0 1 FLT4 esv1049221 5 179995434 179995526 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3919222 S 2 0 1 FLT4 HuRef esv2387627 5 179998654 179999060 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514973 S 1 0 1 FLT4 NA18507 esv4093 5 179998679 179999216 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26534 S 1 0 1 Single Asian sample YH FLT4 YH nsv830565 5 180000239 180124249 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445178 S 95 0 1 FLT4,OR2Y1 dgv1882e1 5 180012576 180214082 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv772,essv20148,essv23278 M 271 0 0 LOC729678,MGAT1,OR2Y1,ZFP62 NA07345 nsv525183 5 180014372 180026648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701261 S 2026 0 1 "" esv2087937 5 180017860 180018232 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875408 S 1 0 1 "" NA18507 nsv10788 5 180046872 180050739 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14326 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv517459 5 180066222 180143262 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681229,nssv652079,nssv663863,nssv661127,nssv694720,nssv684840,nssv659041,nssv691757,nssv692222,nssv687642,nssv697717,nssv688870,nssv663383,nssv667631,nssv688405,nssv675320,nssv661848 M 2026 17 0 OR2Y1 nsv10789 5 180108099 180135305 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12881,nssv14284,nssv14949 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12740,NA12872 nsv818394 5 180108611 180122934 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415899,nssv1415958,nssv1415957 M 112 3 0 "" NA11995,NA12740,NA12750 nsv462587 5 180108611 180159279 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538713 S 1557 1 0 MGAT1 NINDS_96 esv24885 5 180108619 180128369 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10176 S 451 3 0 "" NA11931,NA11995,NA12006 nsv441980 5 180109948 180125790 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33794 5 180110162 180115667 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93010,essv97663 M 51 2 0 "" 21863,22278 dgv6n29 5 180118058 180335838 CNV Loss Locke et al 2006 16826518 BAC_aCGH nsv469692,nsv469788 M 265 0 7 BTNL8,LOC729678,MGAT1,ZFP62 esv3978 5 180148175 180148462 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26419 S 1 0 1 Single Asian sample YH "" YH nsv428133 5 180165057 180719094 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450561,nssv450560,nssv450562 M 62 3 0 BTNL3,BTNL8,BTNL9,GNB2L1,LOC100132062,LOC100132287,LOC100133331,LOC729678,MGAT1,MIR4638,OR2V2,SNORD95,SNORD96A,TRIM41,TRIM52,TRIM7,ZFP62 HGDP00467,HGDP00472,HGDP00473 nsv820020 5 180193508 180365139 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418788 S 2 0 1 BTNL3,BTNL8,LOC729678,ZFP62 AK1 nsv830566 5 180196684 180386588 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445179 S 95 0 1 BTNL3,BTNL8,ZFP62 nsv330116 5 180229112 180231968 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv348694 M 24 "" nsv883299 5 180269415 180387978 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592617 S 6533 1 0 BTNL3,BTNL8 IS39243 nsv10790 5 180271275 180283767 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16064,nssv14346,nssv13772,nssv13616,nssv13637,nssv12709,nssv14979 M 31 4 3 Samples from several populations that are part of the HapMap project. BTNL8 NA07029,NA10863,NA12740,NA18517,NA18563,NA18572,NA19007 esv2427567 5 180276316 180277254 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243462 S 1 1 0 BTNL8 NA18507 esv25559 5 180276524 180277123 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11863 S 451 4 1 BTNL8 NA18505,NA18907,NA19099,NA19114,NA19190 esv992764 5 180276579 180277123 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586749 S 3 0 1 BTNL8 HuRef esv2601471 5 180281515 180282572 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247571 S 1 1 0 BTNL8 NA18507 esv267826 5 180282176 180282261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517156 S 157 1 0 Samples from several populations that are part of the HapMap project. BTNL8 hapmap_pooled_sample_set nsv10791 5 180305337 180364757 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13060,nssv15801,nssv14314,nssv13646,nssv14376,nssv16124,nssv14128,nssv14459,nssv13667,nssv14436,nssv13462,nssv12739,nssv14489,nssv14356,nssv13832,nssv13802,nssv13895,nssv13795,nssv16410,nssv15312,nssv15643,nssv15747,nssv14948 M 31 14 6 Samples from several populations that are part of the HapMap project. BTNL3,BTNL8 NA07029,NA10839,NA10847,NA10863,NA12155,NA12802,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18860,NA18942,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221 nsv821169 5 180307008 180365541 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420560 S 1 0 1 BTNL3,BTNL8 NA10851 nsv823367 5 180307008 180366586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427514,nssv1435882,nssv1429826,nssv1421734,nssv1436643,nssv1424232,nssv1430600,nssv1439691,nssv1440370,nssv1441080,nssv1432068,nssv1432885 M 31 0 12 BTNL3,BTNL8 AK14,AK16,AK20,AK8,NA18537,NA18542,NA18564,NA18566,NA18582,NA18969,NA18972,NA18997 nsv513283 5 180307154 180364573 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626792 S 1 0 1 BTNL3,BTNL8 1 esv29779 5 180307216 180366586 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13848,esv11076 M 451 27 3 BTNL3,BTNL8 NA06985,NA07037,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225 nsv514338 5 180309808 180349312 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627786 S 1414 0 0 BTNL3,BTNL8 nsv819450 5 180309991 180350817 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418871 S 2 0 1 BTNL3,BTNL8 AK1 esv2421695 5 180309991 180364630 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5134719,essv5147494,essv5036989,essv5011568,essv5113839,essv5037255,essv5027093,essv5141562,essv5066502,essv5090956,essv5096109,essv5124762,essv5046891,essv5136534,essv5027488,essv5006779,essv5154337,essv5004148,essv5122004,essv5053618,essv5153126,essv5037578,essv5145710,essv5006310,essv5037076,essv5010332,essv5144884,essv5149030,essv5159899,essv5079394,essv5136559,essv5028171,essv5135674,essv5119013,essv5157487,essv5024100,essv5007753,essv5068518,essv5014085,essv5099194,essv5157814,essv5008705,essv5015940,essv5054639,essv5112754,essv5031425,essv5124519,essv5127354,essv5101420,essv5015617,essv5100572,essv5002364,essv5069805,essv5099119,essv5074873,essv5075317,essv5110279,essv5064796,essv5123150,essv5097373,essv5123932,essv5010585,essv5012370,essv5030757,essv5051070,essv5007858,essv5023522,essv5040808,essv5070295,essv5015103,essv5105226,essv5076943,essv5010441,essv5071472,essv5054134,essv5147552,essv5081958,essv5141687,essv5152657,essv5099386,essv5060679,essv5158848,essv5117610,essv5064832,essv5014930,essv5055507,essv5122819,essv5112732,essv5040746,essv5067698,essv5108863,essv5086666,essv5064843,essv5079706,essv5105927,essv5027999,essv5010559,essv5035250,essv5083532,essv5094230,essv5045327,essv5083633,essv5111335,essv5063640,essv5153014,essv5128893,essv5080785,essv5031019,essv5087030,essv5145095,essv5129351,essv5056555,essv5158770,essv5087608,essv5060892,essv5088839,essv5008566,essv5119064,essv5085635,essv5084787,essv5119813,essv5021689,essv5123872,essv5049857,essv5090507,essv5129875,essv5141548,essv5140026,essv5063533,essv5043509,essv5043926,essv5009053,essv5076089,essv5027891,essv5155724,essv5010147,essv5160266,essv5049646,essv5051406,essv5107724,essv5157414,essv5134092,essv5123821,essv5131064,essv5041719,essv5083469,essv5156111,essv5129218,essv5046770,essv5142705,essv5114727,essv5084902,essv5044335,essv5143598,essv5110640,essv5097994,essv5143619,essv5049407,essv5153822,essv5101591,essv5011225,essv5057460,essv5094481,essv5142142,essv5048651,essv5023205,essv5080408,essv5119540,essv5070914,essv5117385,essv5076592,essv5126961,essv5081735,essv5135619,essv5111097,essv5016051,essv5029253,essv5133127,essv5086732,essv5071317,essv5124417,essv5004361,essv5153594,essv5027863,essv5035450,essv5064636,essv5029588,essv5011524,essv5152424,essv5075442,essv5075105,essv5023965,essv5073963,essv5003262,essv5019478,essv5020068,essv5048306,essv5026259,essv5050031,essv5096972,essv5106926,essv5123479,essv5035977,essv5084005,essv5151152,essv5053394,essv5051565,essv5114385,essv5087706,essv5046767,essv5088302,essv5020715,essv5141760,essv5048250,essv5126139,essv5154378,essv5145983,essv5108052,essv5027124,essv5023324,essv5041191,essv5089903,essv5074340,essv5096596,essv5080497,essv5019960,essv5054805,essv5059778,essv5136160,essv5096575,essv5048861,essv5018456,essv5041854,essv5016928,essv5010496,essv5027334,essv5045428,essv5058403,essv5017673,essv5093988,essv5140167,essv5144709,essv5075351,essv5140995,essv5081490,essv5120405,essv5050092,essv5154028,essv5132330,essv5039259,essv5002214,essv5089178,essv5147135,essv5031180,essv5053365,essv5068533,essv5137423,essv5045166,essv5048037,essv5099658,essv5141954,essv5062756,essv5038328,essv5120995,essv5141178,essv5123983,essv5133978,essv5004299,essv5059884,essv5130791,essv5070892,essv5088848,essv5016285,essv5126597,essv5140703,essv5118109,essv5128462,essv5114917,essv5078061,essv5022041,essv5107485,essv5117378,essv5029994,essv5106756,essv5083987,essv5045788,essv5092076,essv5038808,essv5154249,essv5098928,essv5002760,essv5068366,essv5101895,essv5145867,essv5109237,essv5024113,essv5140193,essv5086005,essv5113305,essv5050054,essv5049136,essv5145674,essv5052006,essv5156201,essv5095846,essv5042198,essv5060313,essv5158936,essv5062180,essv5008142,essv5079081,essv5147767,essv5044746,essv5108959,essv5157051,essv5139033,essv5148473,essv5004128,essv5084186,essv5056079,essv5024884,essv5021152,essv5024279,essv5064865,essv5104446,essv5062707,essv5112391,essv5100774,essv5047074,essv5083406,essv5044476,essv5140951,essv5076798,essv5095712,essv5149226,essv5026407,essv5027431,essv5026841,essv5146400,essv5081193,essv5061516,essv5036421,essv5093974,essv5113516,essv5158162,essv5070178,essv5133226,essv5118874,essv5017609,essv5140282,essv5157912,essv5142178,essv5019434,essv5159334,essv5019791,essv5062505,essv5081769,essv5056214,essv5067795,essv5007685,essv5125290,essv5130496,essv5098062,essv5096590,essv5023555,essv5083910,essv5069926,essv5158816,essv5140622,essv5015075,essv5123384,essv5008884,essv5104728,essv5021826,essv5031686,essv5024393,essv5022411,essv5048427,essv5080036,essv5092133,essv5127161,essv5096954,essv5140766,essv5107697,essv5113021,essv5111479,essv5116104,essv5083582,essv5156956,essv5054579,essv5138382,essv5026778,essv5002650,essv5028316,essv5069576,essv5029951,essv5147464,essv5067056,essv5085333,essv5146934,essv5143217,essv5055840,essv5150809,essv5095294,essv5023938,essv5052452,essv5120408 M 1184 0 407 BTNL3,BTNL8 NA06984,NA06986,NA06993,NA06994,NA06995,NA07000,NA07022,NA07029,NA07055,NA07348,NA07357,NA07435,NA10831,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10856,NA10859,NA10861,NA10863,NA11829,NA11830,NA11843,NA11881,NA11919,NA11920,NA11930,NA11931,NA11993,NA11994,NA12003,NA12005,NA12006,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12155,NA12156,NA12234,NA12239,NA12264,NA12272,NA12273,NA12282,NA12286,NA12287,NA12342,NA12344,NA12348,NA12375,NA12383,NA12400,NA12489,NA12546,NA12707,NA12716,NA12740,NA12750,NA12752,NA12760,NA12761,NA12766,NA12776,NA12777,NA12817,NA12827,NA12832,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA17970,NA17972,NA17974,NA17975,NA17979,NA17980,NA17981,NA17983,NA17986,NA17995,NA17998,NA17999,NA18101,NA18107,NA18108,NA18114,NA18120,NA18122,NA18124,NA18129,NA18131,NA18132,NA18135,NA18138,NA18143,NA18144,NA18149,NA18150,NA18154,NA18162,NA18501,NA18510,NA18524,NA18526,NA18537,NA18542,NA18544,NA18546,NA18548,NA18550,NA18559,NA18561,NA18564,NA18566,NA18576,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18599,NA18602,NA18609,NA18611,NA18613,NA18614,NA18618,NA18620,NA18623,NA18624,NA18626,NA18628,NA18632,NA18633,NA18635,NA18638,NA18639,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18685,NA18702,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18934,NA18935,NA18939,NA18940,NA18944,NA18945,NA18948,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18967,NA18969,NA18970,NA18972,NA18974,NA18975,NA18977,NA18987,NA18990,NA18991,NA18993,NA18994,NA18997,NA18998,NA19000,NA19001,NA19028,NA19035,NA19055,NA19056,NA19058,NA19066,NA19067,NA19068,NA19074,NA19075,NA19076,NA19078,NA19079,NA19083,NA19085,NA19088,NA19128,NA19129,NA19147,NA19153,NA19154,NA19171,NA19172,NA19173,NA19179,NA19189,NA19191,NA19203,NA19209,NA19210,NA19211,NA19222,NA19236,NA19238,NA19240,NA19313,NA19315,NA19371,NA19373,NA19382,NA19385,NA19399,NA19431,NA19436,NA19448,NA19451,NA19452,NA19468,NA19469,NA19471,NA19472,NA19649,NA19650,NA19652,NA19653,NA19654,NA19658,NA19660,NA19661,NA19662,NA19664,NA19665,NA19670,NA19675,NA19677,NA19678,NA19679,NA19680,NA19682,NA19683,NA19685,NA19686,NA19708,NA19711,NA19720,NA19721,NA19725,NA19727,NA19746,NA19748,NA19749,NA19750,NA19755,NA19757,NA19761,NA19771,NA19772,NA19774,NA19776,NA19777,NA19778,NA19783,NA19784,NA19789,NA19900,NA19902,NA19914,NA19921,NA19982,NA20126,NA20128,NA20129,NA20282,NA20288,NA20300,NA20301,NA20302,NA20334,NA20336,NA20356,NA20358,NA20506,NA20508,NA20509,NA20515,NA20518,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20586,NA20588,NA20589,NA20757,NA20759,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20772,NA20773,NA20775,NA20778,NA20786,NA20787,NA20792,NA20799,NA20801,NA20802,NA20803,NA20805,NA20806,NA20808,NA20810,NA20812,NA20813,NA20815,NA20816,NA20818,NA20826,NA20828,NA20849,NA20852,NA20866,NA20882,NA20890,NA20891,NA20897,NA20899,NA20900,NA20902,NA20908,NA21088,NA21106,NA21109,NA21113,NA21119,NA21141,NA21333,NA21424,NA21425,NA21434,NA21435,NA21448,NA21478,NA21486,NA21487,NA21488,NA21490,NA21576,NA21580,NA21596,NA21631,NA21634,NA21647,NA21648,NA21685,NA21686,NA21740 nsv442972 5 180311316 180350709 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BTNL3 dgv1883e1 5 180311387 180421549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10967,esv1049 M 271 0 0 BTNL3,BTNL9 NA19092 nsv508390 5 180311599 180366280 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619969 S 4 0 1 BTNL3 NA15510 dgv988n67 5 180341625 180363650 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823370,nsv823369,nsv823368,nsv823371,nsv823372 M 31 0 7 BTNL3 AK18,AK2,AK4,AK6,NA18526,NA18949,NA18999 esv988906 5 180341625 180363650 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587112 S 3 1 0 BTNL3 HuRef nsv471440 5 180341824 180345858 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548281,nssv548283,nssv548282 M 3 "" esv32906 5 180342291 180342889 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101265,essv93842,essv96869,essv101097,essv94724,essv93055,essv95305,essv95853,essv96194,essv98075,essv96463,essv97787,essv100254,essv99469,essv94155 M 51 15 0 "" 21618,21634,21659,21693,21791,21863,21872,21911,22007,22259,22261,22278,22286,22335,22394 esv33360 5 180343398 180363121 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101531,essv98722,essv97528,essv101214,essv101232,essv93953,essv93797,essv100636,essv96852,essv96780,essv100940,essv100931,essv95180,essv98220,essv98199,essv94734,essv94811,essv94111,essv93985,essv97025,essv96878,essv95627,essv93145,essv93139,essv95343,essv95271,essv95411,essv97434,essv101711,essv95876,essv95839,essv94636,essv94492,essv98998,essv98978,essv93667,essv93763,essv96233,essv96229,essv96657,essv96716,essv97279,essv97123,essv98561,essv100034,essv99848,essv95952,essv93444,essv93500,essv99743,essv99632,essv94901,essv92548,essv92568,essv98115,essv96518,essv96519,essv99349,essv99158,essv97614,essv97669,essv100272,essv100285,essv100525,essv100349,essv100329,essv99549,essv98442,essv98402,essv96389,essv94251 M 51 43 0 BTNL3 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21817,21841,21863,21872,21879,21909,21911,21932,21938,21972,22007,22011,22075,22085,22086,22127,22128,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 nsv471441 5 180348507 180366332 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548284,nssv548285 M 3 BTNL3 esv29991 5 180350918 180362542 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84230 S 2 1 0 BTNL3 HuRef nsv509112 5 180366280 180426561 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623465,nssv619440 M 4 2 0 BTNL3,BTNL9 NA10860,NA18994 nsv818395 5 180366486 180404429 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418275 S 112 1 0 BTNL9 NA19092 nsv462588 5 180366486 180446073 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538714 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BTNL9 HGDP00286 nsv471062 5 180366486 180547271 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545189,nssv545188 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BTNL9,OR2V2 HGDP00472,HGDP00473 dgv735n27 5 180366486 180566460 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462590,nsv462589 M 1557 2 0 BTNL9,OR2V2,TRIM7 HGDP00472,HGDP00473 nsv5162 5 180382084 180427338 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2716,nssv8207,nssv3412,nssv4884 M 9 4 0 BTNL9 NA12156,NA12878,NA18555,NA19129 dgv6406n71 5 180385166 180447258 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883300,nsv883301 M 6533 2 0 BTNL9 MS11298,MS23984 esv9339 5 180396234 180396309 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31780 S 1 1 0 "" SJK nsv883302 5 180404429 180497731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534412 S 6533 1 0 BTNL9 MS11569 esv1001577 5 180404901 180406327 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564937 S 3 1 0 BTNL9 HuRef esv1267126 5 180405671 180405671 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348516 S 2 1 0 BTNL9 HuRef dgv6407n71 5 180407756 180425011 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883303,nsv883304 M 6533 0 3 BTNL9 SP54684,SP54956,SP55021 esv1265655 5 180408488 180408488 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096149 S 2 1 0 BTNL9 HuRef nsv10792 5 180417894 180419628 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14523,nssv15009,nssv14178,nssv13862,nssv16154 M 31 5 0 Samples from several populations that are part of the HapMap project. BTNL9 NA07029,NA07048,NA12740,NA18517,NA18564 nsv883305 5 180425968 180642521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576853 S 6533 1 0 GNB2L1,MIR4638,OR2V2,SNORD95,SNORD96A,TRIM41,TRIM52,TRIM7 IS34271 dgv365n21 5 180447258 180511356 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523076,nsv524116 M 2026 0 2 "" esv22646 5 180447757 180451345 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13225 S 451 9 3 "" NA07037,NA07045,NA12004,NA12006,NA12287,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA19225 nsv820983 5 180447757 180451691 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420561 S 1 0 1 "" NA10851 nsv513284 5 180447854 180451167 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626793 S 1 0 1 "" 1 esv2624548 5 180448075 180451331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368074 S 1 0 1 "" NA18507 esv1632538 5 180448439 180448802 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691957 S 2 0 1 "" HuRef esv1036639 5 180448828 180449583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893490 S 2 0 1 "" HuRef nsv883306 5 180451179 180507856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543457 S 6533 0 1 "" MS16153 nsv830567 5 180462971 180614928 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445180 S 95 0 1 GNB2L1,MIR4638,OR2V2,SNORD95,SNORD96A,TRIM41,TRIM7 nsv883307 5 180463824 180536297 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503855 S 6533 1 0 OR2V2 SP52117 esv2436663 5 180465207 180530803 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376696 S 1 0 0 OR2V2 NA18507 esv8228 5 180477737 180530228 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30669 S 1 0 0 OR2V2 SJK nsv5163 5 180486005 180520184 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9887 S 9 0 1 OR2V2 NA18507 esv2647128 5 180492241 180496170 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328136 S 1 0 1 "" NA18507 esv2005986 5 180492887 180495938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720667 S 1 0 1 "" NA18507 nsv823373 5 180492962 180493749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435883 S 31 0 1 "" NA18566 esv23787 5 180493121 180495727 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13771,esv17008 M 451 0 3 "" NA18907,NA19114,NA19129 nsv514339 5 180493216 180495904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627787 S 1414 0 1 "" nsv328579 5 180494880 180494880 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347157 M 24 "" esv26622 5 180498488 180499937 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10158 S 451 0 1 "" NA19147 esv2445841 5 180499188 180499301 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309587 S 1 0 1 "" NA18507 esv1560029 5 180499290 180499364 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783042 S 2 0 1 "" HuRef esv1355985 5 180499374 180499453 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328717 S 2 0 1 "" HuRef nsv513285 5 180499457 180503256 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626794 S 1 0 1 "" 1 esv1225868 5 180499472 180499546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140738 S 2 0 1 "" HuRef nsv511307 5 180500325 180502617 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625310 S 1 0 1 "" 1 esv2567381 5 180501138 180503302 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204366 S 1 0 1 "" NA18507 esv2382803 5 180501647 180502774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858506 S 1 0 1 "" NA18507 esv22872 5 180501669 180502657 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20851 S 451 5 2 "" NA11894,NA11931,NA12006,NA15510,NA18502,NA18505,NA18916 nsv821483 5 180501669 180502756 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420562 S 1 0 1 "" NA10851 dgv989n67 5 180501834 180502756 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823377,nsv823375,nsv823374 M 31 12 0 "" AK14,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18592,NA18942,NA18947,NA18968,NA18969 nsv328508 5 180501841 180502585 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347086 M 24 "" nsv819237 5 180501863 180505153 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419523 S 2 1 0 "" AK1 nsv520110 5 180507856 180540489 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697228 S 2026 1 0 OR2V2 dgv6408n71 5 180519019 180598096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883309,nsv883308 M 6533 0 2 GNB2L1,MIR4638,TRIM41,TRIM7 IS32322,IS35484 esv1006241 5 180520309 180520368 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579826 S 3 0 1 "" HuRef esv1410872 5 180520404 180520464 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927108 S 2 0 1 "" HuRef nsv328916 5 180523346 180532903 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv347494 M 24 "" nsv883310 5 180536297 180581577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573786 S 6533 0 1 TRIM7 IS33504 nsv517697 5 180540489 180623543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674572,nssv674573,nssv702615,nssv682664,nssv671379,nssv663548,nssv652878,nssv675239,nssv675238 M 2026 0 9 GNB2L1,MIR4638,SNORD95,SNORD96A,TRIM41,TRIM52,TRIM7 dgv6409n71 5 180540489 180716931 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883311,nsv883312 M 6533 0 2 GNB2L1,LOC100132062,LOC100132287,LOC100133331,MIR4638,SNORD95,SNORD96A,TRIM41,TRIM52,TRIM7 MS10311,MS16153 nsv462591 5 180555221 180623543 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538717 S 1557 0 1 GNB2L1,MIR4638,SNORD95,SNORD96A,TRIM41,TRIM52,TRIM7 1780854339_A esv2158984 5 180567689 180568141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654672 S 1 0 1 "" NA18507 nsv513286 5 180612631 180614272 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626795 S 1 0 1 "" 1 esv22766 5 180632989 180641161 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20488 S 451 0 2 "" NA07045,NA18511 nsv821243 5 180632989 180641161 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420563 S 1 1 0 "" NA10851 esv1102047 5 180641303 180641303 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758229 S 2 1 0 "" HuRef esv28275 5 180643835 180837775 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18157,esv11125,esv20374,esv15717,esv11431,esv10726,esv20267,esv9832,esv21347,esv18860,esv20203 M 451 10 19 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225 nsv509114 5 180674523 180696992 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620842,nssv619441,nssv623466 M 4 3 0 LOC100132062,LOC100132287,LOC100133331 NA10860,NA15510,NA18994 nsv10793 5 180707313 180822483 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv12799,nssv14466,nssv13925,nssv14549,nssv13120,nssv14344,nssv13927,nssv13935,nssv16283,nssv14519 M 31 1 8 Samples from several populations that are part of the HapMap project. OR4F16,OR4F29,OR4F3 NA10839,NA10847,NA10863,NA11830,NA12802,NA18537,NA18572,NA18972,NA19173 nsv820415 5 180711978 180764702 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420564 S 1 0 1 OR4F16,OR4F29,OR4F3 NA10851 nsv471442 5 180726894 180727830 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548287,nssv548286,nssv548288 M 3 OR4F16,OR4F29,OR4F3 nsv821325 5 180820321 180837775 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420565 S 1 1 0 "" NA10851 nsv10795 5 180820892 180830091 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16313,nssv13676 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18972,NA19007 nsv469668 5_h2_hap1 427731 569319 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649597 M 265 16 0 Samples from several populations that are part of the HapMap project. "" nsv10796 6 5001 71418 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15673,nssv14496,nssv13880,nssv12829,nssv14158,nssv14374,nssv15703,nssv15831,nssv13892,nssv15001,nssv13884,nssv15861,nssv16470,nssv13965,nssv13150,nssv15807 M 31 11 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA10863,NA12802,NA18504,NA18537,NA18572,NA18853,NA18860,NA18975,NA19132,NA19144,NA19221,NA19240 dgv1884e1 6 5001 91701 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18193,essv8956,essv15517 M 271 0 0 "" NA12057,NA18505,NA19200 dgv1885e1 6 5001 352978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12587,essv10794,essv11123,essv17797,essv7833,essv10895,essv10681,essv11414,essv16782,essv2097 M 271 0 0 DUSP22,IRF4 NA10831,NA18523,NA18558,NA18855,NA18857,NA18872,NA18949,NA19098,NA19209,NA19211 dgv1886e1 6 5001 598718 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18836,essv1491,essv20236,essv14890,essv24268,essv6588,essv4450,essv18771,essv17573,essv14583,essv9173,essv15684,essv10057,essv12268,essv24075,essv18656,essv15996,essv13617,essv13725,essv10104,essv24910,essv12806,essv16098,essv20761,essv449,essv5466,essv18387,essv22905,essv2990,essv24721,essv16938,essv15887,essv287,essv21034,essv21178,essv20084,essv20908,essv19230,essv6705,essv19896,essv10413,essv14077,essv23865,essv9824,essv15016,essv6361,essv7604,essv12352,essv23684,essv17885,essv14509,essv12638,essv4077,essv12513,essv11959,essv5205,essv116 M 271 0 0 DUSP22,EXOC2,IRF4 NA06991,NA06994,NA07048,NA10838,NA10856,NA10859,NA10863,NA11829,NA11830,NA12003,NA12144,NA12146,NA12234,NA12249,NA12751,NA12760,NA12762,NA12801,NA12813,NA12814,NA12874,NA18500,NA18501,NA18502,NA18522,NA18545,NA18552,NA18608,NA18609,NA18611,NA18621,NA18632,NA18635,NA18861,NA18863,NA18870,NA18912,NA18952,NA18968,NA18978,NA18980,NA18981,NA19093,NA19099,NA19100,NA19101,NA19119,NA19120,NA19127,NA19128,NA19130,NA19138,NA19144,NA19202,NA19207,NA19222,NA19223 nsv428134 6 5001 598718 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450590,nssv450585,nssv450579,nssv450595,nssv450589,nssv450582,nssv450581,nssv450601,nssv450597,nssv450578,nssv450596,nssv450593,nssv450588,nssv450592,nssv450600,nssv450584,nssv450602,nssv450591,nssv450599,nssv450603,nssv450583,nssv450580,nssv450586,nssv450594 M 62 24 0 DUSP22,EXOC2,IRF4 HGDP00449,HGDP00450,HGDP00460,HGDP00463,HGDP00467,HGDP00471,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19181,NA19189,NA19257 esv581 6 5001 720274 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 DUSP22,EXOC2,HUS1B,IRF4 esv26003 6 5031 94517 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13218,esv19428,esv20531 M 451 31 0 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820764 6 5031 100228 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420566 S 1 0 1 "" NA10851 esv1605235 6 79737 79786 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915327 S 2 0 1 "" HuRef dgv1887e1 6 89702 522691 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8789,essv20555,essv16515,essv1409,essv11229,essv1937,essv23405,essv11025,essv5913,essv15600,essv8180,essv14294,essv24793,essv22313,essv21127,essv19545,essv1452,essv15039 M 271 0 0 DUSP22,EXOC2,IRF4 NA06985,NA07056,NA10854,NA10860,NA12815,NA12864,NA18508,NA18550,NA18944,NA18959,NA19007,NA19116,NA19129,NA19137,NA19143,NA19194,NA19204,NA19210 nsv883313 6 99536 128900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517615 S 6533 1 0 "" SP57328 dgv6410n71 6 99536 144199 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883314,nsv883315,nsv883316 M 6533 3 0 "" IS39078,MS10590,SP56938 nsv523938 6 110391 127550 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699784 S 2026 1 0 "" nsv525480 6 110391 171015 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701608 S 2026 1 0 "" nsv462592 6 110391 219847 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538718 S 1557 1 0 "" NINDS_15 esv2752087 6 110391 312109 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981763,essv6981764,essv6981765,essv6981766,essv6981767 M 771 1 0 DUSP22 BEC_465 esv2917 6 116647 118767 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25358 S 1 0 1 Single Asian sample YH "" YH esv9595 6 116720 118621 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32036 S 1 0 1 "" SJK nsv10797 6 121016 126459 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14386,nssv16343 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18552,NA18972 nsv821644 6 127761 356478 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421412,nssv1421409,nssv1421406,nssv1421411,nssv1421404,nssv1421408,nssv1421403,nssv1421405,nssv1421410 M 31 9 0 DUSP22,IRF4 nsv470792 6 135043 160423 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544436,nssv544434,nssv544435,nssv544433,nssv544431 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00452,HGDP00462,HGDP00546,HGDP00983,HGDP01085 nsv10798 6 142286 145147 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15891 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 dgv1888e1 6 143357 352978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22457,essv1879,essv10458,essv22534,essv8421,essv13572,essv1721,essv3861,essv7209,essv9014,essv20167,essv21783,essv2524,essv665,essv9361,essv2897,essv20382,essv2479,essv811,essv8299,essv20334,essv11873,essv5804,essv6736,essv21306,essv7110,essv16825,essv13790,essv24386,essv22150,essv15728,essv779,essv17047,essv14760,essv4740,essv16348,essv21832,essv13186,essv13059,essv24491,essv13857,essv17291,essv13478,essv16216,essv9913,essv15339,essv5719,essv15381,essv15272,essv16464,essv21517,essv9653,essv17606,essv18306,essv12768,essv10549,essv22841,essv3700,essv18918,essv12979,essv1181,essv23539,essv7744,essv8769,essv3109,essv22191 M 271 0 0 DUSP22,IRF4 NA06993,NA07348,NA10830,NA10846,NA10855,NA10857,NA11832,NA11839,NA12004,NA12005,NA12044,NA12236,NA12239,NA12707,NA12753,NA12761,NA12802,NA12873,NA18515,NA18516,NA18537,NA18542,NA18547,NA18562,NA18566,NA18593,NA18620,NA18852,NA18853,NA18854,NA18856,NA18859,NA18862,NA18913,NA18914,NA18947,NA18951,NA18953,NA18956,NA18969,NA18973,NA18975,NA18976,NA18994,NA18997,NA18999,NA19003,NA19092,NA19094,NA19102,NA19103,NA19131,NA19132,NA19139,NA19145,NA19153,NA19159,NA19160,NA19161,NA19172,NA19192,NA19193,NA19203,NA19205,NA19221,NA19240 nsv462598 6 144199 153822 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538719 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00462 nsv516561 6 144199 153822 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670213,nssv677990,nssv669177,nssv698837,nssv686210 M 2026 0 5 "" dgv1889e1 6 162334 356954 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1337,essv9509,essv12903,essv8515,essv2934,essv21571,essv25146,essv8053,essv21370,essv8572,essv14932,essv23306,essv19065,essv8701,essv22730,essv25029,essv24116,essv14915,essv11313,essv19794,essv6446,essv20542,essv9969,essv8001,essv13236,essv20824,essv1293,essv15163,essv19858,essv8965 M 271 0 0 DUSP22,IRF4 NA07048,NA10855,NA10860,NA11830,NA11839,NA11995,NA12146,NA12234,NA12239,NA12264,NA12801,NA12864,NA18521,NA18522,NA18523,NA18592,NA18863,NA18973,NA18980,NA19007,NA19103,NA19129,NA19130,NA19131,NA19132,NA19139,NA19200,NA19204,NA19210,NA19221 nsv516659 6 165549 191178 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669942,nssv704224,nssv672194 M 2026 3 0 "" nsv830568 6 177604 356249 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445197,nssv1445202,nssv1445194,nssv1445193,nssv1445201,nssv1445200,nssv1445203,nssv1445195,nssv1445192,nssv1445199,nssv1445198,nssv1445181,nssv1445183,nssv1445191,nssv1445182,nssv1445190,nssv1445186,nssv1445188,nssv1445187,nssv1445189 M 95 3 17 DUSP22,IRF4 dgv1890e1 6 178750 295496 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20989,essv7056,essv22020 M 271 0 0 DUSP22 NA10863,NA12815,NA18612 esv32812 6 181171 323927 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98880,essv97492,essv97467,essv101242,essv93860,essv100851,essv101080,essv95063,essv101366,essv94345,essv97891,essv95728,essv95494,essv93064,essv95311,essv95761,essv94520,essv92915,essv93750,essv96180,essv96739,essv98589,essv98645,essv99751,essv93472,essv99578,essv92526,essv97979,essv96562,essv97728,essv100504,essv100498,essv100379,essv96324,essv94169 M 51 0 32 DUSP22 21606,21616,21618,21634,21656,21693,21721,21805,21808,21837,21841,21847,21863,21872,21911,21932,21939,21972,22007,22011,22085,22086,22128,22217,22233,22259,22261,22278,22298,22300,22371,22394 esv24624 6 183018 193744 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16581 S 451 0 1 "" NA19108 nsv462600 6 191178 256938 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538720 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DUSP22 HGDP00288 dgv1891e1 6 197145 342937 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23274,essv8258,essv22800,essv14799,essv1052,essv2141,essv8681,essv6073,essv25115,essv10191,essv17357,essv14837,essv13352,essv3657,essv207,essv3503,essv2409,essv748,essv93,essv3834,essv20710,essv4936,essv17861,essv13973,essv18485,essv8667,essv12094,essv12960,essv7648,essv15905,essv20843,essv11345,essv6860,essv3611,essv1581,essv10499,essv11064,essv7924,essv18679,essv9276,essv4539,essv21624,essv970,essv13296,essv10701,essv17224,essv9835,essv10593,essv8989,essv16575,essv24207,essv13277,essv14264,essv11402,essv21646,essv2357,essv11372,essv9310,essv22286,essv5623,essv13824,essv20682,essv8493,essv17387,essv7961,essv11465,essv9521,essv11364,essv7897,essv13112,essv16596,essv25088,essv9541,essv14047,essv2938,essv18466,essv23165,essv8023,essv13389,essv16385,essv24017,essv14221,essv13489,essv13380,essv16613,essv2714,essv18010,essv6515,essv13952,essv22704,essv932,essv13222,essv14664,essv20483,essv18000,essv2417,essv7237,essv508,essv3432,essv8059,essv2124,essv6466,essv9568,essv21099,essv12870,essv8548,essv7986,essv15183,essv11614,essv15941,essv19738,essv5428,essv19826,essv17410 M 271 0 0 DUSP22,IRF4 NA07345,NA07348,NA10831,NA10847,NA10854,NA10856,NA10857,NA10859,NA11829,NA11832,NA12004,NA12005,NA12056,NA12144,NA12156,NA12249,NA12752,NA12753,NA12760,NA12761,NA12762,NA12802,NA12814,NA12873,NA12878,NA18500,NA18501,NA18502,NA18503,NA18504,NA18508,NA18515,NA18516,NA18517,NA18537,NA18542,NA18558,NA18566,NA18572,NA18593,NA18621,NA18632,NA18635,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18944,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18969,NA18972,NA18975,NA18976,NA18978,NA18981,NA18991,NA18994,NA18995,NA18997,NA18999,NA19003,NA19005,NA19098,NA19099,NA19100,NA19101,NA19102,NA19119,NA19120,NA19127,NA19128,NA19137,NA19138,NA19143,NA19144,NA19145,NA19153,NA19159,NA19160,NA19161,NA19172,NA19192,NA19193,NA19194,NA19201,NA19202,NA19203,NA19205,NA19207,NA19208,NA19209,NA19211,NA19223,NA19239,NA19240 dgv736n27 6 198861 339293 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462602,nsv462601,nsv462604,nsv462603 M 1557 0 4 DUSP22,IRF4 1780854568_A,HGDP00330,HGDP00701,HGDP01288 dgv6411n71 6 199424 243700 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883334,nsv883317,nsv883322,nsv883333 M 6533 7 0 DUSP22 SP50035,SP50927,SP55573,SP55808,SP55835,SP56307,SP80932 dgv6412n71 6 199424 325328 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883343,nsv883319 M 6533 3 15 DUSP22 IS31441,IS33632,IS38262,IS40415,IS41176,MS14717,MS16008,MS16396,MS16885,MS17438,MS21891,MS22505,MS22930,MS22962,MS24868,SP56903,SP58433,SP81459 dgv6413n71 6 199424 328546 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883338,nsv883337,nsv883330,nsv883318 M 6533 4 0 DUSP22 IS36825,SP50117,SP50870,SP56260 dgv6414n71 6 199424 341321 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883320,nsv883344,nsv883332,nsv883321,nsv883331 M 6533 0 7 DUSP22,IRF4 IS31045,IS35287,IS39248,MS12863,SP54956,SP55488,SP80986 nsv820552 6 199458 341285 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420567 S 1 1 0 DUSP22,IRF4 NA10851 dgv990n67 6 199941 341689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823378,nsv823383,nsv823381,nsv823379,nsv823380,nsv823384,nsv823382 M 31 18 0 DUSP22,IRF4 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18547,NA18570,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973 esv28111 6 200650 329973 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11570,esv20723,esv11334,esv17517 M 451 34 5 DUSP22 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv10799 6 200920 329864 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16373,nssv13706,nssv16184,nssv13957,nssv14446,nssv13955,nssv16500,nssv14434,nssv13910,nssv14526,nssv15069,nssv12911,nssv13914,nssv12859,nssv15008,nssv14553,nssv13952,nssv13922,nssv15921,nssv14208,nssv15039,nssv14188,nssv15031,nssv15038,nssv14978,nssv14476,nssv15342,nssv15837,nssv13825,nssv13180,nssv13995,nssv15733 M 31 24 6 Samples from several populations that are part of the HapMap project. DUSP22 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 dgv6415n71 6 201281 251138 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883323,nsv883324 M 6533 12 2 DUSP22 SP50027,SP50110,SP50183,SP50989,SP51226,SP54399,SP54645,SP55039,SP55539,SP55729,SP56246,SP56950,SP57401,SP57404 dgv6416n71 6 201281 267474 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883325,nsv883326 M 6533 2 0 DUSP22 SP52060,SP54383 dgv6417n71 6 201281 293482 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883342,nsv883341,nsv883327,nsv883329,nsv883336,nsv883328,nsv883335 M 6533 11 0 DUSP22 SP51419,SP51477,SP52835,SP54405,SP54406,SP54461,SP54585,SP55660,SP56143,SP56289,SP57518 nsv514340 6 202332 325527 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627788 S 1414 1 0 DUSP22 esv2421434 6 202353 239837 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5023730,essv5156138,essv5140427,essv5080707,essv5012628,essv5056925,essv5003762,essv5102964,essv5068856,essv5131080,essv5093798,essv5128052,essv5087287,essv5024531,essv5033885,essv5017104,essv5139833,essv5045471,essv5148251,essv5033566,essv5135851,essv5055294,essv5143113,essv5091819,essv5098045,essv5026887,essv5053107,essv5099419,essv5051319,essv5037061,essv5113094,essv5112555,essv5077603,essv5055273,essv5030640,essv5151891,essv5108249,essv5064493,essv5153417,essv5010767,essv5120092,essv5078838,essv5078842,essv5142843,essv5044432,essv5112070,essv5086963,essv5116101,essv5013214,essv5087239,essv5040598,essv5045084,essv5086064,essv5148887,essv5101203,essv5142428,essv5124646,essv5016148,essv5083844,essv5089555,essv5107789,essv5161003,essv5157406,essv5121335,essv5024262,essv5033070,essv5080164,essv5031940,essv5013023,essv5148944,essv5080083,essv5093447,essv5121413,essv5002633,essv5021145,essv5015542,essv5050851,essv5061320,essv5151545,essv5039475,essv5142021,essv5037993,essv5142375,essv5075993,essv5065762,essv5115184,essv5127379,essv5138421,essv5054658,essv5084149,essv5139403,essv5033581,essv5110574,essv5082181,essv5107644,essv5078806,essv5029033,essv5030435,essv5033389,essv5104903,essv5043370,essv5138873,essv5004923,essv5103153,essv5109351,essv5151413,essv5088910,essv5085956,essv5104729,essv5093762,essv5034390,essv5053722,essv5092345,essv5158051,essv5046450,essv5026708,essv5007004,essv5144729,essv5055854,essv5100538,essv5072461,essv5143032,essv5148188,essv5077313,essv5101103,essv5008213,essv5135303,essv5027275,essv5043602,essv5096997,essv5137130,essv5135886,essv5130755,essv5097772,essv5104984,essv5005176,essv5074277,essv5011013,essv5055813,essv5014043,essv5048187,essv5009096,essv5118230,essv5038246,essv5079488,essv5005523,essv5014342,essv5007026,essv5138499,essv5017097,essv5011134,essv5114348,essv5006328,essv5094120,essv5009290,essv5104735,essv5131093,essv5069426,essv5141111,essv5083899,essv5008259,essv5110456,essv5074919,essv5022906,essv5090858,essv5126222,essv5122813,essv5159446,essv5127548,essv5110891,essv5133675,essv5096674,essv5038722,essv5124743,essv5059089,essv5085773,essv5023392,essv5008564,essv5015509,essv5102429,essv5131507,essv5004506,essv5020123,essv5082314,essv5149637,essv5107099,essv5012892,essv5054296,essv5003251,essv5156591,essv5009157,essv5097411,essv5094041,essv5148925,essv5130421,essv5132577,essv5065848,essv5159171,essv5067057,essv5053950,essv5062642,essv5046524,essv5048804,essv5040271,essv5055031,essv5018235,essv5077138,essv5021310,essv5063667,essv5063546,essv5020481,essv5024747,essv5104109,essv5133909,essv5062944,essv5040898,essv5113411,essv5028769,essv5128078,essv5159090,essv5124858,essv5110577,essv5127621,essv5060224,essv5120395,essv5107542,essv5020311,essv5088268,essv5127924,essv5077230,essv5049297,essv5116352,essv5078637,essv5097702,essv5155855,essv5088629,essv5099053,essv5143573,essv5134829,essv5103583,essv5114638,essv5024991,essv5068128,essv5006735,essv5084064,essv5019206,essv5062257,essv5028318,essv5101001,essv5149014,essv5074096,essv5049471,essv5100878,essv5081115,essv5066843,essv5084601,essv5111511,essv5034732,essv5057094,essv5065973,essv5154743,essv5013684,essv5020922,essv5079148,essv5102169,essv5130711,essv5070097,essv5158803,essv5004398,essv5094143,essv5006001,essv5048465,essv5121410,essv5102722,essv5014685,essv5073328,essv5119268,essv5066903,essv5061198,essv5131653,essv5155152,essv5094518,essv5080411,essv5110313,essv5114554,essv5146333,essv5140416,essv5127645,essv5128161,essv5061228,essv5089929,essv5012486,essv5140405,essv5145870,essv5117948,essv5105822,essv5031038,essv5030140,essv5095217,essv5036992,essv5147082,essv5120692,essv5139500,essv5008170,essv5095010,essv5159549,essv5145546,essv5135925,essv5054981,essv5073068,essv5005289,essv5126061,essv5002510,essv5069836,essv5154792,essv5040306,essv5144941,essv5119083,essv5150126,essv5012193,essv5142237,essv5113706,essv5027473,essv5117671,essv5158545,essv5135652,essv5060250,essv5015191,essv5068981,essv5101651,essv5159226,essv5053952,essv5081287,essv5059537,essv5114243,essv5152388,essv5102772,essv5081032,essv5137163,essv5016950,essv5159029,essv5023022,essv5089429,essv5081189,essv5043209,essv5149493,essv5015602,essv5057089,essv5032745,essv5099620,essv5020140,essv5083019,essv5074625,essv5142456,essv5097402,essv5033749,essv5094266,essv5089405,essv5125235,essv5122537,essv5080893,essv5029366,essv5153871,essv5032766,essv5081642,essv5090546,essv5060301,essv5117537,essv5054834,essv5158669,essv5098930,essv5149825,essv5005474,essv5048747,essv5026557,essv5069061,essv5097468,essv5094625,essv5014418,essv5101272,essv5132750,essv5055650,essv5012600,essv5010705,essv5101220,essv5130694,essv5029736,essv5056845,essv5113551,essv5120719,essv5158216,essv5075307,essv5022939,essv5061570,essv5008289,essv5026795,essv5075776,essv5084608,essv5108178,essv5096105,essv5085297,essv5087101,essv5122290,essv5032563,essv5107981,essv5054178,essv5072467,essv5142100,essv5100112,essv5021357,essv5078452,essv5054201,essv5052351,essv5154163,essv5010779,essv5057599,essv5114118,essv5069399,essv5056460,essv5148915,essv5098837,essv5063581,essv5153456,essv5123385,essv5115652,essv5101561,essv5126648,essv5023046,essv5035366,essv5077352,essv5027830,essv5046208,essv5128333,essv5055594,essv5151806,essv5084644,essv5118365,essv5005123,essv5003063,essv5101066,essv5104524,essv5050041,essv5120525,essv5046395,essv5131167,essv5043528,essv5085154,essv5102359,essv5104154,essv5107718,essv5027433,essv5086881,essv5107101,essv5152670,essv5002963,essv5079949,essv5076908,essv5147256,essv5112007,essv5129936,essv5099149,essv5087840,essv5005103,essv5022981,essv5021140,essv5122446,essv5025054,essv5153319,essv5111448,essv5078377,essv5151795,essv5016250,essv5041149,essv5078260,essv5126441,essv5023675,essv5011535,essv5023728,essv5052666,essv5023701,essv5059876,essv5010077,essv5122656,essv5025003,essv5041653,essv5159454,essv5046573,essv5045462,essv5133324,essv5010447,essv5031446,essv5066881,essv5080799,essv5153079,essv5080695,essv5051137,essv5155130,essv5157568,essv5029590,essv5035530,essv5087413,essv5064719,essv5042296,essv5083723,essv5118316,essv5127531,essv5139327,essv5128670,essv5051906,essv5053325,essv5023250,essv5158569,essv5103539,essv5107884,essv5141092,essv5079535,essv5123635,essv5038323,essv5035696,essv5069438,essv5033991,essv5070786,essv5108288,essv5037208,essv5079395,essv5049871,essv5058951,essv5111809,essv5150143,essv5016344,essv5129256,essv5149467,essv5006986,essv5157161,essv5157575,essv5063965,essv5086564,essv5016797,essv5153236,essv5039966,essv5108617,essv5072336,essv5062056,essv5093086,essv5055524,essv5125029,essv5003848,essv5059728,essv5060092,essv5077557,essv5157683,essv5148720,essv5077526,essv5035929,essv5138336,essv5117999,essv5038127,essv5127296,essv5038568,essv5043916,essv5116237,essv5074489,essv5098398,essv5029779,essv5057107,essv5126542,essv5065484,essv5003074,essv5043378,essv5114147,essv5052028,essv5105280,essv5084388,essv5064774,essv5107256,essv5078789,essv5134817,essv5051715,essv5086499,essv5124698,essv5070344,essv5045161,essv5051546,essv5106622,essv5109277,essv5056645,essv5153065,essv5056832,essv5120570,essv5006636,essv5057655,essv5125368,essv5032618,essv5139920,essv5038739,essv5043332,essv5161123,essv5138770,essv5113324,essv5033151,essv5030146,essv5025998,essv5026955,essv5156058,essv5019355,essv5110656,essv5007133,essv5122021,essv5092643,essv5019128,essv5151735,essv5019291,essv5121460,essv5132315,essv5087238,essv5073189,essv5086892,essv5133115,essv5025371,essv5154660,essv5008547,essv5084596,essv5086851,essv5019074,essv5048703,essv5071066,essv5033069,essv5143218,essv5065972,essv5115268,essv5084775,essv5114542,essv5042003,essv5065028,essv5112047,essv5026536,essv5101187,essv5128396,essv5015337,essv5054921,essv5128594,essv5067214,essv5050268,essv5067441,essv5090190,essv5126826,essv5094863,essv5124369,essv5091575,essv5074590,essv5105360,essv5101765,essv5130742,essv5067779,essv5051783,essv5001988,essv5115783,essv5088857,essv5109406,essv5035832,essv5025921,essv5144617,essv5043895,essv5017639,essv5077560,essv5137613,essv5045835,essv5103103,essv5009489,essv5076223,essv5130196,essv5004111,essv5153920,essv5055477,essv5046562,essv5145210,essv5093164,essv5100736,essv5004373,essv5151716,essv5083457,essv5101932,essv5123639,essv5124176,essv5155254,essv5005277,essv5156310,essv5011754,essv5024407,essv5040314,essv5101948,essv5140784,essv5109590,essv5006493,essv5029115,essv5006441,essv5124521,essv5041130,essv5049523,essv5010374,essv5112004,essv5144324,essv5075844,essv5027046,essv5081868,essv5085650,essv5076152,essv5115958,essv5147883,essv5065602,essv5002961,essv5004786,essv5049653,essv5100501,essv5014001,essv5123162,essv5157942,essv5003623,essv5080109,essv5047983,essv5130655,essv5147044,essv5081044,essv5087640,essv5009105,essv5066288,essv5041060,essv5077941,essv5056879,essv5051737,essv5019635,essv5157150,essv5040281,essv5157167,essv5121202,essv5046124,essv5040875,essv5078108,essv5016131,essv5144470,essv5112585,essv5100440,essv5133450,essv5155846,essv5093409,essv5004615,essv5005889,essv5023136,essv5054488,essv5108519,essv5072989,essv5087580,essv5024578,essv5112868,essv5136686,essv5056752,essv5143009,essv5040835,essv5138250,essv5099480,essv5073190,essv5087888,essv5003579,essv5022205,essv5067429,essv5146108,essv5122253,essv5103398,essv5153160,essv5058284,essv5050149,essv5021511,essv5123883,essv5098022,essv5149565,essv5041410,essv5036842,essv5036658,essv5048334,essv5020448,essv5035117,essv5005317,essv5008941,essv5065182,essv5041122,essv5130211,essv5035795,essv5144242,essv5021044,essv5072601,essv5027223,essv5008964,essv5079644,essv5044226,essv5071611,essv5048324,essv5121415,essv5041126,essv5104078,essv5128817,essv5036544,essv5091233,essv5013033,essv5151224,essv5092044,essv5152468,essv5125838,essv5032627,essv5012727,essv5012933,essv5089134,essv5063147,essv5140186,essv5038400,essv5004695,essv5129687,essv5078865,essv5094898,essv5099285,essv5088574,essv5127793,essv5158615,essv5078520,essv5094070,essv5097787,essv5073043,essv5148551,essv5042752,essv5032843,essv5088706,essv5158232,essv5034507,essv5010980,essv5012695,essv5148077,essv5068436,essv5042257,essv5048177,essv5016061,essv5130236,essv5100049,essv5150049,essv5052054,essv5155947,essv5010535,essv5068678,essv5099391,essv5089534,essv5014499,essv5100886,essv5127714,essv5081066,essv5039376,essv5084630,essv5079583,essv5122997,essv5009738,essv5010231,essv5072403,essv5121418,essv5092931,essv5120979,essv5159418,essv5096495,essv5037796,essv5161088,essv5078709,essv5047922,essv5002693,essv5072557,essv5139547,essv5015183,essv5011306,essv5131969,essv5095145,essv5046080,essv5156427,essv5102123,essv5011688,essv5110772,essv5041700,essv5087758,essv5160464,essv5099692,essv5056124,essv5131612,essv5080511,essv5029315,essv5003145,essv5005154,essv5157483,essv5132011,essv5123317,essv5132433,essv5074195,essv5078085,essv5014988,essv5128314,essv5075407,essv5114387,essv5127751,essv5038296,essv5137380,essv5003018,essv5056687,essv5011934,essv5008942,essv5089663,essv5137951,essv5136868,essv5098818,essv5060170,essv5121939,essv5141558,essv5133309,essv5122263,essv5002573,essv5072961,essv5077980,essv5106718,essv5104408,essv5090068,essv5041097,essv5077146,essv5051373,essv5053019,essv5122687,essv5099790,essv5110524,essv5133014,essv5051916,essv5079753,essv5037163,essv5023166,essv5135735,essv5150845,essv5114120,essv5131391,essv5152635,essv5008314,essv5111355,essv5139487,essv5002964,essv5058606,essv5012927,essv5129599,essv5157418,essv5132388,essv5075468,essv5078339,essv5073166,essv5081089,essv5070427,essv5013956,essv5136805 M 1184 955 0 DUSP22 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA07022,NA07031,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA10830,NA10835,NA10836,NA10838,NA10840,NA10843,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12156,NA12234,NA12239,NA12249,NA12264,NA12286,NA12287,NA12335,NA12336,NA12340,NA12342,NA12343,NA12344,NA12347,NA12348,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12708,NA12716,NA12718,NA12739,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12818,NA12827,NA12829,NA12830,NA12832,NA12842,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17965,NA17968,NA17970,NA17974,NA17976,NA17977,NA17980,NA17983,NA17987,NA17988,NA17989,NA17990,NA17993,NA17997,NA18102,NA18105,NA18106,NA18108,NA18109,NA18112,NA18114,NA18117,NA18122,NA18124,NA18128,NA18129,NA18134,NA18136,NA18138,NA18139,NA18141,NA18143,NA18147,NA18148,NA18155,NA18158,NA18159,NA18160,NA18161,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18529,NA18534,NA18542,NA18544,NA18545,NA18548,NA18550,NA18557,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18611,NA18613,NA18614,NA18616,NA18617,NA18618,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18639,NA18641,NA18643,NA18645,NA18647,NA18674,NA18682,NA18689,NA18696,NA18704,NA18740,NA18745,NA18749,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18972,NA18973,NA18975,NA18976,NA18977,NA18978,NA18980,NA18981,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA19000,NA19002,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19055,NA19056,NA19058,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19080,NA19083,NA19084,NA19085,NA19086,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19397,NA19398,NA19399,NA19403,NA19404,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19449,NA19451,NA19452,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19651,NA19652,NA19653,NA19654,NA19656,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19671,NA19676,NA19677,NA19685,NA19686,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19721,NA19722,NA19724,NA19746,NA19749,NA19762,NA19773,NA19774,NA19775,NA19777,NA19778,NA19779,NA19780,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19916,NA19917,NA19918,NA19919,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20519,NA20520,NA20522,NA20524,NA20525,NA20527,NA20530,NA20534,NA20539,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20775,NA20785,NA20790,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20808,NA20809,NA20810,NA20811,NA20813,NA20815,NA20816,NA20818,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20882,NA20883,NA20884,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21519,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21776,NA21784,NA21826 esv998752 6 202353 326149 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586001 S 3 0 1 DUSP22 HuRef nsv442973 6 202353 326149 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DUSP22 dgv1892e1 6 202461 248121 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6805,essv19377 M 271 0 0 DUSP22 NA07019,NA18594 dgv1893e1 6 202461 267696 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23296,essv4524 M 271 0 0 DUSP22 NA12006,NA18623 dgv1894e1 6 202461 295496 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5702,essv731,essv18820,essv18045,essv2731 M 271 0 0 DUSP22 NA06993,NA12248,NA18550,NA18940,NA18965 esv29987 6 214735 294386 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84226 S 2 0 1 DUSP22 HuRef dgv1895e1 6 214735 334630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8399,essv12934,essv14016,essv12062,essv12042,essv24946,essv7448,essv607,essv1644,essv19131 M 271 0 0 DUSP22 NA12044,NA12707,NA18582,NA18947,NA18961,NA19093,NA19094,NA19116,NA19222,NA19238 nsv524816 6 219847 256938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700810 S 2026 0 1 DUSP22 dgv6418n71 6 219847 260051 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883340,nsv883339 M 6533 2 0 DUSP22 SP52131,SP55663 nsv525541 6 229613 289878 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701678 S 2026 1 0 DUSP22 dgv991n67 6 236793 327505 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823388,nsv823389,nsv823385,nsv823386,nsv823391 M 31 5 0 DUSP22 AK12,NA18542,NA18564,NA18582,NA18997 nsv883345 6 237170 306547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499336 S 6533 1 0 DUSP22 SP50652 nsv823390 6 240899 397604 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426352 S 31 1 0 DUSP22,IRF4 NA18968 nsv883346 6 241257 335105 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499881 S 6533 1 0 DUSP22 SP50061 esv2421645 6 243700 324015 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066315,essv5044277,essv5102162,essv5153679,essv5127739,essv5054855,essv5144680,essv5105843,essv5039027,essv5157059,essv5131923,essv5098745,essv5129813,essv5095584,essv5135655,essv5102916,essv5155324,essv5133041,essv5003527,essv5111084,essv5155666,essv5153677,essv5030866,essv5097469,essv5019597,essv5072359,essv5002978,essv5003521,essv5137824,essv5125616,essv5083455,essv5128734,essv5140581,essv5120261,essv5119388,essv5091382,essv5045603,essv5106592,essv5143309,essv5046383,essv5146983,essv5055589,essv5149894,essv5040027,essv5088175,essv5010294,essv5076263,essv5134676,essv5134185,essv5110943,essv5061325,essv5137305,essv5145117,essv5142909,essv5097341,essv5013036,essv5157035,essv5054136,essv5024696,essv5063682,essv5088129,essv5063724,essv5043369,essv5102768,essv5141941,essv5022495,essv5131416,essv5026472,essv5036752,essv5157640,essv5086230,essv5139150,essv5152930,essv5100231,essv5109468,essv5077983,essv5034645,essv5104398,essv5137858,essv5026409,essv5101280,essv5042161,essv5126184,essv5150449,essv5158633,essv5034509,essv5124495,essv5018527,essv5064073,essv5136712,essv5013605,essv5045330,essv5129941,essv5014631,essv5028440,essv5159939,essv5029886,essv5009871,essv5050877,essv5156831,essv5125575,essv5104757,essv5070696,essv5036048,essv5114240,essv5033713,essv5051211,essv5020793,essv5007968,essv5143732,essv5132251,essv5118979,essv5100498,essv5035908,essv5122183,essv5091107,essv5151591,essv5068325,essv5130257,essv5066991,essv5060539,essv5105093,essv5137152,essv5138391,essv5123268,essv5015899,essv5152130,essv5155342,essv5139446,essv5010699,essv5153405,essv5014620,essv5005551,essv5065355,essv5086165,essv5086209,essv5133785,essv5061675,essv5053507,essv5026015,essv5109269,essv5142454,essv5031850,essv5081103,essv5148536,essv5152509,essv5046611,essv5115745,essv5042737,essv5019576,essv5067351,essv5025842,essv5136640,essv5029860,essv5051118,essv5079458,essv5092282,essv5083798,essv5034270,essv5100394,essv5153464,essv5110267,essv5047832,essv5025066,essv5108576,essv5153955,essv5086661,essv5115180,essv5040755,essv5051253,essv5010351,essv5012311,essv5026241,essv5043722,essv5024490,essv5005253,essv5103715,essv5089354,essv5037662,essv5154023,essv5017681,essv5124088,essv5027136,essv5030750,essv5037649,essv5152661,essv5053128,essv5045432,essv5072543,essv5058085,essv5116842,essv5073214,essv5059615,essv5055463,essv5011885,essv5061812,essv5023215,essv5049673,essv5154223,essv5154214,essv5141313,essv5075983,essv5014892,essv5133320,essv5105835,essv5121609,essv5124733,essv5112020,essv5121505,essv5064470,essv5080316,essv5135881,essv5101692,essv5010432,essv5048735,essv5046707,essv5067138,essv5128604,essv5060542,essv5023503,essv5058298,essv5146461,essv5095834,essv5017913,essv5082121,essv5081628,essv5111745,essv5138533,essv5077492,essv5035187,essv5153521,essv5078182,essv5151865,essv5060495,essv5060864,essv5061382,essv5107493,essv5010936,essv5064776,essv5111596,essv5069433,essv5111418,essv5038230,essv5079236,essv5157969,essv5106180,essv5025031,essv5054969,essv5084195,essv5140917,essv5050872,essv5062876,essv5129314,essv5068620,essv5141770,essv5080807,essv5131057,essv5150433,essv5134360,essv5152034,essv5017465,essv5081370,essv5116047,essv5081023,essv5154413,essv5082053,essv5017628,essv5070618,essv5130011,essv5129411,essv5123783,essv5103229,essv5052946,essv5087795,essv5042262,essv5035838,essv5013103,essv5072880,essv5082454,essv5015793,essv5132366,essv5152440,essv5104253,essv5079961,essv5137048,essv5021846,essv5121313,essv5154536,essv5024467,essv5134056,essv5079286,essv5089479,essv5076496,essv5011656,essv5085119,essv5104847,essv5100805,essv5141805,essv5138465,essv5022399,essv5110676,essv5152127,essv5092536,essv5050120,essv5138748,essv5031896,essv5138987,essv5071345,essv5120981,essv5134587,essv5157864,essv5064155,essv5134726,essv5065588,essv5015429,essv5119891,essv5124831,essv5112702,essv5092926,essv5051786,essv5130923,essv5044761,essv5009312,essv5105977,essv5079684,essv5019767,essv5048515,essv5157222,essv5149681,essv5009366,essv5053870,essv5128689,essv5072482,essv5094423,essv5083828,essv5122018,essv5035095,essv5063988,essv5032835,essv5141086,essv5151204,essv5035862,essv5143860,essv5054843,essv5043977,essv5050680,essv5146622,essv5015535,essv5137394,essv5140875,essv5069492,essv5122023,essv5068756,essv5003274,essv5078304,essv5066175,essv5062354,essv5009987,essv5094306,essv5110559,essv5058067,essv5159154,essv5123684,essv5056775,essv5073197,essv5058762,essv5093851,essv5075585,essv5003255,essv5155255,essv5148088,essv5136198,essv5158692,essv5018940,essv5113248,essv5095765,essv5114083,essv5034996,essv5130752,essv5049170,essv5160291,essv5149510,essv5027229,essv5089737,essv5108575,essv5102050,essv5144781,essv5036099,essv5040707,essv5050197,essv5122007,essv5076261,essv5131359,essv5137248,essv5057015,essv5018149,essv5144826,essv5040565,essv5094027,essv5150164,essv5099535,essv5009363,essv5006173,essv5137101,essv5139425,essv5080064,essv5064674,essv5071991,essv5074273,essv5052052,essv5047142,essv5030352,essv5027343,essv5117084,essv5040475,essv5009739,essv5058937,essv5036549,essv5138483,essv5157401,essv5089244,essv5101297,essv5037820,essv5136629,essv5105783,essv5052689,essv5008950,essv5081593,essv5104671,essv5006990,essv5023692,essv5079677,essv5116191,essv5146482,essv5015355,essv5027938,essv5125644,essv5134121,essv5156637,essv5154310,essv5143976,essv5049452,essv5017297,essv5130336,essv5063280,essv5058688,essv5095840,essv5153926,essv5145241,essv5042071,essv5065190,essv5148191,essv5052831,essv5088037,essv5090971,essv5124300,essv5092891,essv5157651,essv5142455,essv5135280,essv5082757,essv5091362,essv5088487,essv5064842,essv5019466,essv5156435,essv5071662,essv5133266,essv5047196,essv5140429,essv5145803,essv5100153,essv5007978,essv5150148,essv5023173,essv5101632,essv5133443,essv5107301,essv5079926,essv5130951,essv5026686,essv5003869,essv5067992,essv5042237,essv5031236,essv5126068,essv5160296,essv5073235,essv5132961,essv5086575,essv5033221,essv5042720,essv5148336,essv5047459,essv5128486,essv5058867,essv5010233,essv5154612,essv5145779,essv5070096,essv5013142,essv5016030,essv5107226,essv5048697,essv5081992,essv5066585,essv5092589,essv5120453,essv5068474,essv5090081,essv5047994,essv5049307,essv5070194,essv5046398,essv5015404,essv5112631,essv5089687,essv5152781,essv5147510,essv5017216,essv5052560,essv5049357,essv5002852,essv5055972,essv5066740,essv5110776,essv5097991,essv5030184,essv5045394,essv5103709,essv5116468,essv5153807,essv5108183,essv5151586,essv5125832,essv5129468,essv5053243,essv5036567,essv5107627,essv5110510,essv5056511,essv5067077,essv5157467,essv5131236,essv5027355,essv5142948,essv5051578,essv5003415,essv5033394,essv5006155,essv5035019,essv5016266,essv5073380,essv5092188,essv5048023,essv5074186,essv5116481,essv5067567,essv5134727,essv5055883,essv5093547,essv5011929,essv5159723,essv5031860,essv5136775,essv5064572,essv5052321,essv5100309,essv5042119,essv5068513,essv5053278,essv5040046,essv5072424,essv5142760,essv5008483,essv5148084,essv5077565,essv5084056,essv5122076,essv5017771,essv5143521,essv5071419,essv5014903,essv5040802,essv5061679,essv5046632,essv5100193,essv5082235,essv5040280,essv5090245,essv5074536,essv5020233,essv5114115,essv5157647,essv5155885,essv5139243,essv5106676,essv5091593,essv5097851,essv5136184,essv5052026,essv5084562,essv5113785,essv5021932,essv5001896,essv5159748,essv5140293,essv5117169,essv5064499,essv5038279,essv5031864,essv5040127,essv5144273,essv5015299,essv5124259,essv5137312,essv5084612,essv5153699,essv5044488,essv5052402,essv5005917,essv5041255,essv5105247,essv5141388,essv5140889,essv5035231,essv5154318,essv5014332,essv5027622,essv5133359,essv5054848,essv5129209,essv5130460,essv5002156,essv5119572,essv5058483,essv5107047,essv5021029,essv5034475,essv5112877,essv5105901,essv5128803,essv5088997,essv5082820,essv5026417,essv5031266,essv5104473,essv5084962,essv5033127,essv5068455,essv5132475,essv5062646,essv5089971,essv5013268,essv5041562,essv5141252,essv5125428,essv5015417,essv5081335,essv5055212,essv5133689,essv5154966,essv5061281,essv5004305,essv5090890,essv5030759,essv5062328,essv5063383,essv5149244,essv5016702,essv5026318,essv5137494,essv5151190,essv5068626,essv5142922,essv5155070,essv5004522,essv5128625,essv5159381,essv5144790,essv5046711,essv5008889,essv5085573,essv5041843,essv5043684,essv5108172,essv5143943,essv5156904,essv5058420,essv5149335,essv5081165,essv5138921,essv5020500,essv5024682,essv5042589,essv5006656,essv5016378,essv5125949,essv5118905,essv5091410,essv5130930,essv5149398,essv5031297,essv5009882,essv5011957,essv5124693,essv5066253,essv5025870,essv5062698,essv5022406,essv5065040,essv5016368,essv5159545,essv5081253,essv5063186,essv5141415,essv5038946,essv5084412,essv5130466,essv5008249,essv5028663,essv5053276,essv5052872,essv5004862,essv5137391,essv5079539,essv5078999,essv5032423,essv5031012,essv5030537,essv5107019,essv5086218,essv5093140,essv5140960,essv5049577,essv5055405,essv5109281,essv5047484,essv5094828,essv5077821,essv5126343,essv5039852,essv5153939,essv5097714,essv5119133,essv5143863,essv5012387,essv5031722,essv5005923,essv5135670,essv5109514,essv5079797,essv5019098,essv5004448,essv5136385,essv5013162,essv5156476,essv5158421,essv5067303,essv5055045,essv5137759,essv5027750,essv5157323,essv5056137,essv5113655,essv5119004,essv5030662,essv5146496,essv5137709,essv5053042,essv5037033,essv5022978,essv5110424,essv5126945,essv5153105,essv5057216,essv5007298,essv5150421,essv5119588,essv5080112,essv5043992,essv5013252,essv5094691,essv5002709,essv5005071,essv5006226,essv5088425,essv5043737,essv5136796,essv5138263,essv5111429,essv5131077,essv5026470,essv5101506,essv5108918,essv5003755,essv5154946,essv5112418,essv5081213,essv5063279,essv5110042,essv5159991,essv5074205,essv5052174,essv5033305,essv5144916,essv5034338,essv5155410,essv5032582,essv5109613,essv5141342,essv5097439,essv5160387,essv5023309,essv5077303,essv5157762,essv5099754,essv5079747,essv5061097,essv5003926,essv5018675,essv5141044,essv5023015,essv5082067,essv5122483,essv5137934,essv5035180,essv5128317,essv5147218,essv5141628,essv5039890,essv5132008,essv5116853,essv5126198,essv5090018,essv5114027,essv5034368,essv5126489,essv5094638,essv5015052,essv5055116,essv5130125,essv5065474,essv5093711,essv5141214,essv5100026,essv5116499,essv5058126,essv5061119,essv5101191,essv5126612,essv5132547,essv5046962,essv5087381,essv5003632,essv5099551,essv5140804,essv5058797,essv5108878,essv5073716,essv5157752,essv5122193,essv5045767,essv5140476,essv5032448,essv5015240,essv5108367,essv5035306,essv5131071,essv5098282,essv5082491,essv5008852,essv5124801,essv5010384,essv5153225,essv5063591,essv5096772,essv5044597,essv5058783,essv5008788,essv5046810,essv5154924,essv5115777,essv5016492,essv5136643,essv5048491,essv5029354,essv5062086,essv5039618,essv5139895,essv5140713,essv5002825,essv5111724,essv5088398,essv5048980,essv5103974,essv5051363,essv5057095,essv5028955,essv5114674,essv5068779,essv5105771,essv5026129,essv5122809,essv5151077,essv5068862,essv5127102,essv5009740,essv5100214,essv5036771,essv5120594,essv5148678,essv5103484,essv5006512,essv5030538,essv5067848,essv5034533,essv5081008,essv5115849,essv5037879,essv5113757,essv5013884,essv5006166,essv5148966,essv5158755,essv5124620,essv5020285,essv5041331,essv5109868,essv5041842,essv5094341,essv5017253,essv5034454,essv5098896,essv5005691,essv5132971,essv5030076,essv5092789,essv5122867,essv5022656,essv5106158,essv5048109,essv5032584,essv5098233,essv5018369,essv5033226,essv5123569,essv5121528,essv5036135,essv5030499,essv5106812,essv5058090,essv5056284,essv5035542,essv5002969,essv5118392,essv5051163,essv5114309,essv5125727,essv5006446,essv5153234,essv5076454,essv5141958,essv5048051,essv5066930,essv5132474,essv5145958,essv5079010,essv5063317,essv5007088,essv5043829,essv5081136,essv5059219,essv5106069,essv5063414,essv5018629,essv5074819,essv5056539,essv5041113,essv5079595,essv5082813,essv5058365,essv5042766,essv5031369,essv5073462,essv5030729,essv5103753,essv5053536,essv5153982,essv5078133,essv5124206,essv5037610,essv5017489,essv5109975,essv5010079,essv5091883,essv5056300,essv5104506,essv5153196,essv5108633,essv5159148,essv5065398,essv5153548,essv5089641,essv5005758,essv5073084,essv5137006,essv5117797,essv5100442,essv5048807,essv5054465,essv5089950,essv5046375,essv5113101,essv5025339,essv5004225,essv5134326,essv5035346,essv5061261,essv5098718,essv5030393,essv5007828,essv5024983,essv5156616,essv5041390,essv5113781,essv5080190,essv5035223,essv5030081,essv5050670,essv5041199,essv5103656,essv5038913,essv5125603,essv5150172,essv5002981,essv5119653,essv5120844,essv5079455,essv5037267,essv5080066,essv5102340,essv5133483,essv5065183,essv5040966,essv5085157,essv5134962,essv5061804,essv5160091,essv5015707,essv5024149,essv5088318,essv5042222,essv5095411,essv5007107,essv5049771,essv5026838,essv5119213,essv5109218,essv5139313,essv5062212,essv5071341,essv5150050,essv5066922,essv5160618,essv5112328,essv5094185,essv5103877,essv5076488,essv5048750,essv5138134,essv5069009,essv5108671,essv5114159,essv5076495,essv5078597,essv5062604,essv5081734,essv5006885,essv5075528,essv5073285,essv5045131,essv5152208,essv5023026,essv5136499,essv5032708,essv5083497,essv5048626,essv5156818,essv5120648,essv5094657,essv5149866,essv5029362,essv5034711,essv5029650,essv5046675,essv5160386,essv5140537,essv5033122,essv5044720,essv5149898,essv5081064,essv5146959,essv5005239,essv5106136,essv5032656,essv5137425,essv5146195,essv5121751,essv5072290,essv5015491,essv5122210,essv5051272,essv5040583,essv5062440,essv5092316,essv5027166,essv5023302,essv5027028,essv5121236,essv5127373,essv5016815,essv5100859,essv5043428,essv5074357,essv5153860,essv5068764,essv5025368,essv5025335 M 1184 1129 0 DUSP22 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17982,NA17983,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18117,NA18118,NA18120,NA18122,NA18124,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18148,NA18149,NA18150,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19716,NA19718,NA19719,NA19721,NA19722,NA19723,NA19724,NA19726,NA19746,NA19747,NA19748,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21741,NA21776,NA21825,NA21826 essv24628 6 248017 293482 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DUSP22 NA10846 dgv1896e1 6 248017 329546 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2548,essv21905,essv19720,essv24172,essv21489,essv22606,essv18549,essv24555,essv24437,essv21495,essv24191,essv19032,essv5970,essv1716 M 271 0 0 DUSP22 NA07034,NA07056,NA10830,NA10838,NA11831,NA11993,NA12003,NA12154,NA12236,NA12751,NA12865,NA18552,NA18968,NA18974 essv23730 6 248017 356064 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DUSP22,IRF4 NA12813 nsv5164 6 256655 277372 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2717 S 9 1 0 DUSP22 NA18555 nsv883347 6 257023 293482 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515687 S 6533 1 0 DUSP22 SP56246 dgv6419n71 6 257023 325328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883352,nsv883349,nsv883351,nsv883350,nsv883348 M 6533 0 7 DUSP22 SP50904,SP51007,SP51062,SP51108,SP51216,SP56032,SP80992 dgv6420n71 6 260051 335105 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883353,nsv883358 M 6533 2 0 DUSP22 SP50826,SP56950 dgv6421n71 6 267474 320989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883356,nsv883354 M 6533 0 2 DUSP22 SP54673,SP56880 esv1057238 6 270543 270543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588015 S 2 1 0 DUSP22 HuRef nsv349805 6 271316 271376 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368383 M 24 DUSP22 esv995174 6 271491 271553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575450 S 3 0 1 DUSP22 HuRef nsv883355 6 274000 308858 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506985,nssv1516203,nssv1506460,nssv1499270 M 6533 2 2 DUSP22 SP50023,SP54355,SP54448,SP56549 nsv883357 6 274000 323970 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513476,nssv1516278,nssv1501509 M 6533 1 2 DUSP22 SP50985,SP55787,SP56734 nsv437476 6 282804 310074 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467357 S 60 0 1 Samples from several populations that are part of the HapMap project. DUSP22 NA19194 nsv5166 6 291085 322837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4887,nssv2566,nssv522,nssv3413 M 9 4 0 DUSP22 NA12878,NA18555,NA19129,NA19240 nsv509115 6 305763 361001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620843,nssv619442,nssv623467 M 4 3 0 IRF4 NA10860,NA15510,NA18994 esv1491967 6 316498 316498 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252108 S 2 1 0 "" HuRef esv1151062 6 316546 316546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660276 S 2 1 0 "" HuRef esv1290333 6 316817 316817 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891036 S 2 1 0 "" HuRef esv1007209 6 316843 316930 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564757 S 3 1 0 "" HuRef esv992317 6 317125 318163 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564616 S 3 1 0 "" HuRef esv2308022 6 325180 325601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836478 S 1 0 1 "" NA18507 nsv883359 6 339293 461350 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525565 S 6533 1 0 EXOC2,IRF4 SP56701 esv2472692 6 341264 342630 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340885 S 1 0 1 IRF4 NA18507 dgv1897e1 6 345985 598718 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv554,essv4562,essv22038,essv6156,essv4759,essv5308,essv11728,essv19387,essv7067,essv24825,essv4405,essv5252,essv24994,essv3383,essv2076,essv2850,essv19021,essv4261 M 271 0 0 EXOC2,IRF4 NA07000,NA10839,NA11840,NA12005,NA12154,NA18524,NA18532,NA18537,NA18563,NA18573,NA18603,NA18620,NA18624,NA18945,NA18949,NA18953,NA18998,NA19154 nsv830569 6 347743 518991 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445204 S 95 1 0 EXOC2,IRF4 nsv462608 6 348799 387410 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538726 S 1557 0 1 IRF4 1780862093_A nsv883360 6 360406 402748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509842 S 6533 0 1 "" SP54956 esv1003757 6 364114 364209 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575209 S 3 0 1 "" HuRef esv1682621 6 364232 364328 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348316 S 2 0 1 "" HuRef esv1359624 6 370826 370956 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658877 S 2 0 1 "" HuRef nsv5167 6 387174 431632 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2567 S 9 0 1 EXOC2 NA18555 nsv513287 6 412550 415228 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626796 S 1 0 1 "" 1 esv2491149 6 413755 415312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245693 S 1 0 1 "" NA18507 esv3644 6 413969 414742 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26085 S 1 0 1 Single Asian sample YH "" YH esv991318 6 414075 415040 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564898 S 3 0 1 "" HuRef nsv819424 6 439232 444865 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419723 S 2 0 1 EXOC2 AK1 esv1476529 6 446157 446418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737311 S 2 0 1 EXOC2 HuRef esv1708635 6 446628 446628 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082007 S 2 1 0 EXOC2 HuRef esv990956 6 460573 460573 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585848 S 3 1 0 EXOC2 HuRef esv28427 6 460610 465809 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13737,esv11283 M 451 4 5 EXOC2 NA18505,NA18517,NA18909,NA19114,NA19240 nsv521248 6 461350 463078 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697867 S 2026 0 1 EXOC2 nsv528164 6 463059 474104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704713 S 2026 0 1 EXOC2 nsv820738 6 463837 465809 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420568 S 1 0 1 EXOC2 NA10851 nsv513288 6 464082 465924 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626797 S 1 0 1 EXOC2 1 esv1288084 6 464327 465280 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227485 S 2 0 1 EXOC2 HuRef esv1209367 6 466119 466119 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882671 S 2 1 0 EXOC2 HuRef nsv522827 6 473736 474104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698477 S 2026 0 1 EXOC2 essv22330 6 513061 720274 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. EXOC2,HUS1B NA06985 nsv462609 6 525362 778579 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538727 S 1557 1 0 EXOC2,HUS1B 1788485589_A nsv5168 6 538773 552812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8208 S 9 0 1 EXOC2 NA12156 nsv883361 6 539407 980675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590849 S 6533 1 0 EXOC2,HUS1B,LOC285768 IS38594 esv25398 6 540051 541361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12654 S 451 0 2 EXOC2 NA18505,NA18517 esv21609 6 546031 552388 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11898,esv18128 M 451 0 24 EXOC2 NA07037,NA11894,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18861,NA18907,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240 nsv513289 6 546158 547999 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626799 S 1 0 1 EXOC2 1 esv2548242 6 546161 547820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327745 S 1 0 1 EXOC2 NA18507 nsv349892 6 546201 547160 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368470 M 24 EXOC2 esv1333120 6 546846 547446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711948 S 2 0 1 EXOC2 HuRef nsv5169 6 597308 626630 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2568 S 9 0 1 EXOC2,HUS1B NA18555 esv995480 6 608402 614377 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565265 S 3 0 1 EXOC2 HuRef esv2575838 6 610571 613392 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229549 S 1 0 1 EXOC2 NA18507 nsv513290 6 611112 613145 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626800 S 1 0 1 EXOC2 1 esv2052896 6 611184 613018 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726555 S 1 0 1 EXOC2 NA18507 esv2806 6 611275 612987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25247 S 1 0 1 Single Asian sample YH EXOC2 YH nsv514341 6 611357 611481 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627789 S 1414 0 1 EXOC2 esv8276 6 611378 612815 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30717 S 1 0 1 EXOC2 SJK esv26846 6 611425 612789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19038 S 451 0 22 EXOC2 NA06985,NA07037,NA07045,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12776,NA12878,NA15510,NA18502,NA18505,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19240 nsv513291 6 620183 622687 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626801 S 1 0 1 EXOC2 1 esv2558058 6 620236 622360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307164 S 1 0 1 EXOC2 NA18507 esv2134988 6 620322 620785 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938579 S 1 0 1 EXOC2 NA18507 esv27485 6 620417 622340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20332 S 451 0 27 EXOC2 NA06985,NA11931,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240 nsv348666 6 620505 620826 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367244 M 24 EXOC2 esv1399069 6 620530 620905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891436 S 2 0 1 EXOC2 HuRef nsv349641 6 620648 620806 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368219 M 24 EXOC2 esv1416044 6 620968 621076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340494 S 2 0 1 EXOC2 HuRef esv1502705 6 621241 621516 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999957 S 2 0 1 EXOC2 HuRef esv2132988 6 621747 622313 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666871 S 1 0 1 EXOC2 NA18507 esv1623218 6 621754 621754 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915536 S 2 1 0 EXOC2 HuRef esv1105432 6 621807 621862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172629 S 2 0 1 EXOC2 HuRef nsv830571 6 628778 822339 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445206,nssv1445205 M 95 0 2 EXOC2 esv272405 6 683606 683945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581035 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv525316 6 709818 726077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701424 S 2026 0 1 "" esv999842 6 718127 719858 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564286 S 3 0 1 "" HuRef nsv823392 6 718954 719435 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433668,nssv1435886,nssv1428299 M 31 0 3 "" AK10,NA18526,NA18566 esv22372 6 719091 719831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17328 S 451 0 8 "" NA11894,NA11993,NA12239,NA18502,NA18508,NA18517,NA19114,NA19147 nsv820670 6 719091 719831 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420570 S 1 1 0 "" NA10851 esv25978 6 720571 721271 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17131 S 451 0 1 "" NA12044 nsv515956 6 725441 726077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665462,nssv693707 M 2026 0 2 "" esv1004985 6 731064 731175 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578563 S 3 0 1 "" HuRef nsv522467 6 737837 740414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705831 S 2026 0 1 "" dgv366n21 6 740414 741484 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525069,nsv524415 M 2026 0 2 "" nsv525029 6 740414 743331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701069 S 2026 0 1 "" nsv5170 6 754373 788302 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8209 S 9 1 0 "" NA12156 esv1007359 6 777120 781972 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564550 S 3 1 0 "" HuRef nsv5171 6 791776 821771 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv523,nssv4889,nssv4888 M 9 2 0 "" NA19129,NA19240 nsv513292 6 800165 803140 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626802 S 1 0 1 "" 1 esv2433197 6 801898 803349 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173679 S 1 0 1 "" NA18507 esv1946228 6 802000 802485 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736533 S 1 0 1 "" NA18507 esv2335748 6 802072 802730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902274 S 1 0 1 "" NA18507 esv2290270 6 802648 803007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4912970 S 1 0 1 "" NA18507 nsv350105 6 802730 802805 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368683 M 24 "" esv999421 6 805196 809986 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565803 S 3 1 0 "" HuRef nsv820501 6 806815 808775 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420571 S 1 0 1 "" NA10851 esv29445 6 806925 808775 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14593 S 451 14 4 "" NA06985,NA07045,NA11995,NA12239,NA12287,NA12489,NA12878,NA18502,NA18508,NA18517,NA18858,NA18907,NA18916,NA19099,NA19129,NA19190,NA19225,NA19240 nsv499161 6 806934 808777 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585624 S 9 1 0 "" nsv514342 6 806938 807089 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627790 S 1414 1 0 "" nsv515038 6 808769 809195 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627030 S 1414 0 0 "" esv2503209 6 822794 824161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230597 S 1 0 1 "" NA18507 esv2410528 6 823092 823741 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627465 S 1 0 1 "" NA18507 nsv470793 6 825234 848764 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544437,nssv544438,nssv544440,nssv544439 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876,HGDP00895,HGDP00962,HGDP01060 nsv516598 6 832977 833109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670790,nssv688915,nssv693882,nssv669458,nssv655124,nssv676880,nssv683349,nssv669609 M 2026 0 8 "" esv24524 6 854726 856131 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11990 S 451 0 15 "" NA11993,NA12287,NA12489,NA12828,NA15510,NA18505,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19099,NA19147,NA19240 dgv1898e1 6 896385 953488 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4315,esv1228 M 271 0 0 LOC285768 NA18564 nsv818396 6 924803 927165 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418072 S 112 0 1 LOC285768 NA11882 esv1065550 6 939329 939329 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821785 S 2 1 0 LOC285768 HuRef dgv6422n71 6 956570 1180354 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883363,nsv883362 M 6533 2 0 LOC285768 IS33865,IS38594 nsv5172 6 995229 1036073 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6047 S 9 0 1 LOC285768 NA12156 esv2649025 6 998719 999369 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360633 S 1 1 0 LOC285768 NA18507 esv1590769 6 999085 999085 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992382 S 2 1 0 LOC285768 HuRef nsv830572 6 1014903 1194050 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445210,nssv1445211,nssv1445208,nssv1445209 M 95 2 2 LOC285768 esv1003400 6 1070899 1070899 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571839 S 3 1 0 "" HuRef esv269152 6 1077999 1078325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496428,essv2501149,essv2493571,essv2494037,essv2513242,essv2493532,essv2496958 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18516,NA18517,NA18871,NA18907,NA19137,NA19190 nsv5173 6 1090154 1135643 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6048 S 9 0 1 "" NA12156 nsv5174 6 1134595 1166952 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6049 S 9 1 0 "" NA12156 esv1567327 6 1151044 1151044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622318 S 2 1 0 "" HuRef esv1923556 6 1155705 1156183 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4521149 S 1 0 1 "" NA18507 nsv526426 6 1166088 1167588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702728 S 2026 0 1 "" nsv349577 6 1179084 1179084 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368155 M 24 "" esv989404 6 1180103 1180225 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568369 S 3 0 1 "" HuRef dgv6423n71 6 1189319 1234462 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883365,nsv883367,nsv883364,nsv883366 M 6533 0 9 "" IS31067,IS31747,IS34531,IS35372,IS37063,IS37609,IS38246,IS39516,IS41818 nsv883368 6 1189837 1247607 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590851 S 6533 1 0 "" IS38594 nsv883369 6 1189837 1361848 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576068 S 6533 1 0 FOXF2,FOXQ1 IS33865 esv1072397 6 1195970 1195970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738040 S 2 1 0 "" HuRef esv1629841 6 1249107 1249236 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4057261 S 2 0 1 "" HuRef nsv823393 6 1253070 1266984 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426692 S 31 1 0 FOXQ1 AK6 esv2589158 6 1263577 1266655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235993 S 1 0 1 "" NA18507 nsv513293 6 1263785 1266526 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626803 S 1 0 1 "" 1 esv1149465 6 1264683 1264818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309122 S 2 0 1 "" HuRef esv1609825 6 1264957 1265092 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078169 S 2 0 1 "" HuRef esv1494944 6 1265108 1265912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227190 S 2 0 1 "" HuRef nsv883370 6 1294828 1371789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580411 S 6533 1 0 FOXF2 IS35297 esv2518731 6 1302668 1304490 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309743 S 1 0 1 "" NA18507 dgv6424n71 6 1319276 1371789 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883372,nsv883371 M 6533 0 2 FOXF2 MS10311,MS10769 nsv349130 6 1386472 1386569 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367708 M 24 "" esv992082 6 1386549 1386646 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583970 S 3 0 1 "" HuRef esv1173612 6 1386634 1386732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624796 S 2 0 1 "" HuRef nsv883373 6 1388098 1474134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576069 S 6533 1 0 "" IS33865 dgv6425n71 6 1399333 1503448 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883375,nsv883374 M 6533 2 0 "" SP53863,SP55966 esv2584642 6 1422822 1424241 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224987 S 1 0 1 "" NA18507 esv1918266 6 1423132 1423593 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738431 S 1 0 1 "" NA18507 esv998778 6 1460542 1460608 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566252 S 3 0 1 "" HuRef esv1224529 6 1460566 1460566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182274 S 2 1 0 "" HuRef esv1528771 6 1460566 1460633 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766022 S 2 0 1 "" HuRef esv22569 6 1477293 1482290 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19676,esv13612 M 451 0 9 "" NA12414,NA15510,NA18502,NA18508,NA18511,NA19099,NA19190,NA19225,NA19240 esv2648974 6 1478795 1480428 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217753 S 1 0 1 "" NA18507 esv2214760 6 1478809 1479884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4839885 S 1 0 1 "" NA18507 nsv348836 6 1479000 1479449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367414 M 24 "" esv1306167 6 1479279 1479329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330914 S 2 0 1 "" HuRef nsv883376 6 1480042 1580081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576070 S 6533 1 0 FOXC1,GMDS IS33865 nsv883377 6 1497704 1528599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590628 S 6533 0 1 "" IS38541 nsv462610 6 1522435 1543156 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538728 S 1557 0 1 "" 1780862414_A dgv992n67 6 1535090 1574520 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823395,nsv823396,nsv823394 M 31 3 0 FOXC1,GMDS AK10,AK12,NA18542 dgv6426n71 6 1538850 1573901 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883380,nsv883379,nsv883381,nsv883378 M 6533 0 5 FOXC1,GMDS SP54043,SP54725,SP54956,SP54988,SP55021 nsv883382 6 1543941 1565036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510500 S 6533 0 1 FOXC1 SP54967 nsv823397 6 1548866 1567263 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426694 S 31 1 0 FOXC1 AK6 nsv823399 6 1557777 1558351 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423426 S 31 1 0 FOXC1 NA18999 nsv823400 6 1557777 1558620 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437459 S 31 1 0 FOXC1 NA18949 nsv350018 6 1597616 1597743 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368596 M 24 GMDS esv1420337 6 1597788 1597788 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788265 S 2 1 0 GMDS HuRef esv271905 6 1619165 1619336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510232,essv2500853,essv2511009,essv2503194,essv2511167,essv2505087,essv2508027,essv2500207,essv2512419,essv2501719,essv2505502,essv2513143,essv2495325,essv2508526,essv2508363,essv2493465,essv2504984,essv2508822,essv2502822,essv2496767,essv2510561,essv2494277,essv2493158,essv2496555,essv2494762,essv2506093,essv2497331,essv2512996,essv2508228,essv2507897,essv2511329,essv2508609,essv2513269,essv2495658,essv2502395,essv2505397,essv2497445,essv2495965,essv2500802,essv2506931,essv2506622,essv2498759,essv2497513,essv2497055,essv2503612,essv2495823,essv2503953,essv2511528,essv2504404,essv2499544 M 157 50 0 Samples from several populations that are part of the HapMap project. GMDS NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11881,NA11931,NA11995,NA12003,NA12006,NA12043,NA12144,NA12154,NA12249,NA12287,NA12717,NA12749,NA12763,NA12828,NA12878,NA12892,NA18498,NA18501,NA18502,NA18504,NA18510,NA18519,NA18523,NA18545,NA18547,NA18561,NA18564,NA18570,NA18592,NA18907,NA18916,NA18948,NA18952,NA18959,NA18961,NA18973,NA19102,NA19108,NA19138,NA19147,NA19190 esv273998 6 1619179 1619265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580148,essv2580024 M 7 2 0 Samples from several populations that are part of the HapMap project. GMDS NA12878,NA12892 esv2522446 6 1627361 1628945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275455 S 1 0 1 GMDS NA18507 esv2309535 6 1627607 1628291 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982099 S 1 0 1 GMDS NA18507 nsv349305 6 1627801 1628111 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367883 M 24 GMDS esv6042 6 1627818 1628102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28483 S 1 0 1 GMDS SJK esv5149 6 1628981 1629451 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27590 S 1 0 1 Single Asian sample YH GMDS YH nsv462611 6 1633390 1647105 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538729 S 1557 0 1 GMDS 1782681263_A esv1975015 6 1690445 1690822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622472 S 1 0 1 GMDS NA18507 esv994377 6 1690540 1690611 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580437 S 3 0 1 GMDS HuRef esv1079731 6 1690634 1690706 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006042 S 2 0 1 GMDS HuRef dgv367n21 6 1712458 1718296 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528129,nsv518739 M 2026 0 2 GMDS dgv6427n71 6 1720435 1887537 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883384,nsv883383 M 6533 0 3 GMDS IS40823,MS20919,MS25633 esv2088179 6 1772466 1772911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805503 S 1 0 1 GMDS NA18507 esv5411 6 1772522 1772913 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27852 S 1 0 1 Single Asian sample YH GMDS YH esv994574 6 1772607 1772684 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577283 S 3 0 1 GMDS HuRef nsv5175 6 1805745 1815128 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3414 S 9 1 0 GMDS NA12878 nsv883385 6 1814591 1860827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593852 S 6533 1 0 GMDS IS39529 esv1790287 6 1843393 1843393 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065817 S 2 1 0 GMDS HuRef nsv883386 6 1855107 2067453 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504641 S 6533 0 1 GMDS SP52688 esv2501581 6 1872068 1872932 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270404 S 1 1 0 GMDS NA18507 esv1680278 6 1872435 1872435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331740 S 2 1 0 GMDS HuRef esv1276389 6 1872445 1872445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345711 S 2 1 0 GMDS HuRef nsv516745 6 1941942 1946354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670597,nssv678953 M 2026 0 2 GMDS esv1726903 6 1945240 1945240 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358161 S 2 1 0 GMDS HuRef nsv527735 6 1973236 2042653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704219 S 2026 0 1 GMDS nsv522608 6 1977258 2148887 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706000 S 2026 1 0 GMDS nsv883387 6 2031678 2121238 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516039 S 6533 1 0 GMDS SP56380 nsv883388 6 2038431 2459910 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552670 S 6533 1 0 GMDS MS19582 nsv883389 6 2038431 2721302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567831 S 6533 1 0 C6orf195,GMDS,MYLK4,WRNIP1 IS31155 nsv519587 6 2042653 2090446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696937 S 2026 0 1 GMDS nsv830573 6 2065984 2208645 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445212 S 95 1 0 GMDS dgv368n21 6 2067453 2090446 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527808,nsv524730 M 2026 0 2 GMDS nsv528906 6 2090446 2101261 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705591 S 2026 1 0 GMDS esv269652 6 2125112 2125418 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508330,essv2512764,essv2508684,essv2507257,essv2497402 M 157 5 0 Samples from several populations that are part of the HapMap project. GMDS NA18561,NA18577,NA18592,NA18870,NA18959 esv25056 6 2145728 2147603 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15423 S 451 1 0 GMDS NA18909 esv25592 6 2152442 2153324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18300 S 451 0 1 GMDS NA18523 dgv6428n71 6 2210343 2529918 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883390,nsv883391 M 6533 2 0 "" IS35523,MS18251 esv2590524 6 2321152 2321902 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350184 S 1 1 0 "" NA18507 esv1125486 6 2329509 2329509 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985401 S 2 1 0 "" HuRef nsv830574 6 2411543 2612215 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445213 S 95 1 0 C6orf195,MYLK4 esv1709431 6 2413650 2413650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003872 S 2 1 0 "" HuRef esv1722779 6 2413650 2413702 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188865 S 2 0 1 "" HuRef nsv883392 6 2424512 2552266 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516040 S 6533 1 0 "" SP56380 esv2463766 6 2449596 2450515 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209317 S 1 1 0 "" NA18507 esv33977 6 2472402 2569090 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94013 S 51 0 1 C6orf195 21802 esv29135 6 2512324 2517088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15262 S 451 0 8 "" NA07037,NA12414,NA18508,NA18511,NA18523,NA18909,NA18916,NA19225 nsv462612 6 2523976 2549725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538730 S 1557 0 1 "" 1780854444_A esv1107487 6 2550525 2550585 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223659 S 2 0 1 "" HuRef dgv1899e1 6 2561236 2577107 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1237,essv21654 M 271 0 0 C6orf195 NA12761 nsv526731 6 2568929 2570303 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703072 S 2026 0 1 C6orf195 nsv521282 6 2574150 2576607 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697884 S 2026 0 1 C6orf195 esv1006170 6 2576895 2581635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563788 S 3 0 1 C6orf195 HuRef nsv883393 6 2596986 2728303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552671 S 6533 1 0 MYLK4,WRNIP1 MS19582 nsv521426 6 2606852 2611477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698034 S 2026 0 1 MYLK4 nsv883394 6 2615185 2631680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582180 S 6533 0 1 MYLK4 IS35824 esv2434989 6 2639454 2640325 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335144 S 1 1 0 MYLK4 NA18507 esv1778065 6 2639764 2639764 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674456 S 2 1 0 MYLK4 HuRef nsv883395 6 2674836 2752358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516041 S 6533 1 0 MYLK4,WRNIP1 SP56380 esv274995 6 2693516 2704200 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585857 S 1250 0 1 MYLK4 esv273277 6 2718976 2719226 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580020,essv2580912 M 7 2 0 Samples from several populations that are part of the HapMap project. WRNIP1 NA12892,NA19238 esv271458 6 2718985 2719306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495411,essv2511452,essv2495258,essv2502326,essv2512209,essv2505057,essv2502801,essv2496730,essv2502927,essv2506171,essv2500415,essv2497780,essv2508291,essv2506378,essv2511277,essv2508182,essv2509990,essv2499237,essv2500904,essv2503472,essv2498821,essv2497589,essv2510432,essv2499698,essv2512040 M 157 25 0 Samples from several populations that are part of the HapMap project. WRNIP1 NA11919,NA11920,NA11992,NA12004,NA12155,NA12828,NA12892,NA18498,NA18507,NA18523,NA18537,NA18555,NA18561,NA18566,NA18570,NA18579,NA18593,NA18605,NA18856,NA18947,NA19138,NA19147,NA19172,NA19225,NA19238 esv1193325 6 2719016 2719016 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853971 S 2 1 0 WRNIP1 HuRef esv2427829 6 2761288 2762681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191466 S 1 0 1 "" NA18507 esv1008506 6 2764606 2769468 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564330 S 3 0 1 "" HuRef nsv830575 6 2792609 2980915 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445214 S 95 0 1 DKFZP686I15217,LOC401233,MGC39372,MIR4645,NQO2,SERPINB6,SERPINB9 esv7271 6 2808272 2808359 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29712 S 1 1 0 MGC39372 SJK nsv883396 6 2835189 2903094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588192 S 6533 0 1 SERPINB6,SERPINB9 IS38176 nsv348854 6 2838425 2838425 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367432 M 24 SERPINB9 nsv883397 6 2860663 2890330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509844,nssv1501313 M 6533 0 2 "" SP51109,SP54956 nsv883398 6 2877454 2951354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530532 S 6533 0 1 DKFZP686I15217,NQO2,SERPINB6 MS10311 nsv437477 6 2879640 2893964 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467358 S 60 0 1 Samples from several populations that are part of the HapMap project. SERPINB6 NA19120 esv1519516 6 2885930 2885930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046726 S 2 1 0 "" HuRef nsv507311 6 2886007 2892007 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621828 S 4 1 0 "" NA10860 dgv6429n71 6 2904512 2951354 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883400,nsv883399 M 6533 0 2 DKFZP686I15217,NQO2,SERPINB6 IS39233,SP54956 esv269017 6 2917570 2917655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516943,essv2516516 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12814 dgv1900e1 6 2934581 2961056 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1068,essv24090 M 271 0 0 DKFZP686I15217,NQO2 NA07048 nsv5177 6 2943539 2976557 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3415 S 9 1 0 LOC401233,NQO2 NA12878 nsv883401 6 2947322 2968717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561737 S 6533 0 1 LOC401233,NQO2 MS25205 nsv883402 6 2956148 2968717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546588 S 6533 0 1 LOC401233,NQO2 MS17208 nsv523441 6 2964653 2965688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699197 S 2026 0 1 LOC401233,NQO2 nsv470795 6 2964653 3003689 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544441 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC401233,NQO2 HGDP00657 nsv522115 6 2974126 2989886 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694888 S 2026 1 0 "" nsv823401 6 2991343 2993596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432070 S 31 0 1 "" AK20 esv8196 6 2997694 2997772 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30637 S 1 1 0 "" SJK esv25797 6 3031108 3032022 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12042 S 451 1 0 RIPK1 NA19108 esv23861 6 3035970 3039510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11347 S 451 0 14 RIPK1 NA11993,NA12044,NA12489,NA18508,NA18511,NA18517,NA18861,NA18907,NA18909,NA18916,NA19114,NA19190,NA19225,NA19240 nsv883403 6 3038274 3049215 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505422,nssv1505519,nssv1500420,nssv1506777,nssv1513256 M 6533 1 4 RIPK1 SP50097,SP53473,SP53601,SP54405,SP55699 nsv883404 6 3038274 3056955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514511 S 6533 0 1 RIPK1 SP56007 esv1036383 6 3039262 3039448 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920218 S 2 0 1 RIPK1 HuRef nsv821003 6 3089024 3092950 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420572 S 1 1 0 BPHL NA10851 esv990601 6 3089811 3092540 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586234 S 3 0 1 BPHL HuRef esv23049 6 3089811 3092615 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15858,esv13984,esv11846 M 451 0 21 BPHL NA07037,NA07045,NA11894,NA11931,NA12006,NA12156,NA12239,NA12287,NA12489,NA12776,NA18502,NA18505,NA18508,NA18511,NA18861,NA18907,NA18909,NA19108,NA19114,NA19225,NA19240 nsv513294 6 3090264 3092484 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626804 S 1 0 1 BPHL 1 esv1223146 6 3091236 3091343 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764016 S 2 0 1 BPHL HuRef nsv462614 6 3097404 3149820 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538731 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BPHL,LOC100507194,TUBB2A HGDP00094 nsv883405 6 3097404 3161668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527132 S 6533 1 0 BPHL,LOC100507194,TUBB2A SP58180 nsv883406 6 3098382 3116933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510717 S 6533 0 1 BPHL,TUBB2A SP54988 esv2624823 6 3101640 3126358 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234549 S 1 0 1 TUBB2A NA18507 esv4042 6 3101678 3125395 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26483 S 1 0 1 Single Asian sample YH TUBB2A YH esv7105 6 3101729 3125252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29546 S 1 0 1 TUBB2A SJK nsv510010 6 3125970 3131970 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623995 S 4 0 1 LOC100507194 NA18994 esv22758 6 3126775 3127649 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12607 S 451 0 3 "" NA12489,NA18511,NA19240 nsv820821 6 3126775 3127649 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420573 S 1 0 1 "" NA10851 esv2575369 6 3166960 3167264 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191498 S 1 1 0 "" NA18507 dgv6430n71 6 3181079 3247216 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883409,nsv883407,nsv883408 M 6533 0 3 PSMG4,SLC22A23 IS33504,MS16153,MS18276 esv29057 6 3198916 3207553 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20906,esv17107,esv14983 M 451 9 0 PSMG4 NA12749,NA18508,NA18511,NA18907,NA18909,NA19108,NA19114,NA19147,NA19225 nsv883410 6 3217806 3249777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546589 S 6533 0 1 SLC22A23 MS17208 esv24289 6 3239340 3240625 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15535 S 451 0 1 SLC22A23 NA19225 esv2167684 6 3272088 3272465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903949 S 1 0 1 SLC22A23 NA18507 esv2461941 6 3300831 3301834 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322015 S 1 1 0 SLC22A23 NA18507 esv9167 6 3423054 3423153 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31608 S 1 1 0 "" SJK esv24826 6 3461516 3462591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20283 S 451 0 1 "" NA19108 nsv883411 6 3466102 3602173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526776 S 6533 0 1 "" SP57803 dgv993n67 6 3564065 3566932 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823403,nsv823402 M 31 0 5 "" AK16,NA18566,NA18582,NA18947,NA18968 esv21652 6 3564460 3566864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14671 S 451 0 1 "" NA11894 nsv524865 6 3636788 3642148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700870 S 2026 0 1 "" esv24329 6 3657580 3664679 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17145,esv13836,esv13935,esv17834 M 451 31 0 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12006,NA12156,NA12239,NA12489,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv32629 6 3661416 3663274 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93012,essv97423,essv95818,essv99681,essv97773,essv100115,essv100288 M 51 2 5 "" 21863,21879,21911,22217,22278,22286,22300 dgv994n67 6 3663136 3664632 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823405,nsv823404 M 31 2 0 "" AK12,NA18973 esv33970 6 3669393 3672879 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98737,essv100777,essv99844 M 51 3 0 C6orf145 21606,21656,22086 nsv5178 6 3679682 3706544 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3416 S 9 1 0 C6orf145 NA12878 esv2497223 6 3721816 3722333 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288976 S 1 1 0 "" NA18507 esv23790 6 3830174 3832767 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18807 S 451 0 4 "" NA18907,NA18909,NA19108,NA19114 esv9263 6 3878346 3878430 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31704 S 1 1 0 "" SJK nsv819355 6 3927997 3928295 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419825 S 2 0 1 "" AK1 esv2370815 6 3965814 3966255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887908 S 1 0 1 "" NA18507 esv1658451 6 3966013 3966063 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948814 S 2 0 1 "" HuRef esv2493637 6 3966014 3966063 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247288 S 1 0 1 "" NA18507 nsv349483 6 3974267 3974579 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368061 M 24 PRPF4B esv2527172 6 3994500 3996041 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260062 S 1 0 1 PRPF4B NA18507 esv2201190 6 3995039 3995772 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584008 S 1 0 1 PRPF4B NA18507 esv4480 6 3995190 3995607 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26921 S 1 0 1 Single Asian sample YH PRPF4B YH esv993339 6 3995241 3995559 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584403 S 3 0 1 PRPF4B HuRef nsv349965 6 3995241 3995559 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368543 M 24 PRPF4B esv1454617 6 3995256 3995575 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942286 S 2 0 1 PRPF4B HuRef esv9631 6 3995257 3995580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32072 S 1 0 1 PRPF4B SJK esv2422231 6 4045332 4178453 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161552 S 181 0 1 C6orf201,ECI2 ND03627 esv2422457 6 4045332 4322395 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161473 S 181 0 1 C6orf201,ECI2 ND04845 nsv441981 6 4115525 4119295 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516282 6 4173048 4174687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667327,nssv691084 M 2026 0 2 "" esv25547 6 4199022 4202184 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17585 S 451 0 1 "" NA19129 esv1213554 6 4200160 4200160 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689102 S 2 1 0 "" HuRef nsv516402 6 4200707 4417586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668085,nssv672006,nssv659882,nssv686373 M 2026 0 4 "" dgv737n27 6 4200707 4426420 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462619,nsv462620 M 1557 0 2 "" NINDS_147,NINDS_271 esv268667 6 4241953 4242281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520946,essv2551681,essv2550011,essv2536888,essv2527152,essv2562172,essv2530341 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18504,NA18511,NA18517,NA18522,NA18909,NA19141 nsv883412 6 4294807 4321375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501869 S 6533 1 0 "" SP50936 nsv883413 6 4316621 4419113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518087 S 6533 0 1 "" SP57463 nsv830576 6 4392553 4555603 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445215 S 95 1 0 "" esv2349887 6 4400050 4400474 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663917 S 1 0 1 "" NA18507 esv22540 6 4421188 4423551 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10874 S 451 0 2 "" NA18517,NA18907 nsv883414 6 4436514 4463249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501030 S 6533 1 0 "" SP51025 nsv883415 6 4491490 4574653 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559447 S 6533 1 0 "" MS23981 nsv525377 6 4514181 4517376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701498 S 2026 0 1 "" esv27661 6 4514271 4517126 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17835 S 451 0 1 "" NA19190 nsv517135 6 4516783 4517376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653839,nssv680060,nssv672334,nssv672876,nssv680944 M 2026 0 5 "" nsv528627 6 4559057 4676339 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705257 S 2026 1 0 CDYL nsv883416 6 4611877 4635759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520719 S 6533 0 1 "" SP51234 nsv819186 6 4660925 4661728 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419087 S 2 1 0 CDYL AK1 esv2422499 6 4690427 5018221 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161400 S 181 1 0 CDYL,RPP40 ND01582 nsv830577 6 4779566 4995543 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445216 S 95 0 1 CDYL,RPP40 nsv462622 6 4849379 5117008 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538735 S 1557 1 0 CDYL,LYRM4,MIR3691,PPP1R3G,RPP40 NINDS_125 esv23619 6 4863711 4864226 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9912 S 451 1 0 CDYL NA12006 esv272889 6 4927251 4927540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580604 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv2548026 6 4981846 4984981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334686 S 1 0 1 "" NA18507 esv1991955 6 4982085 4984354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758239 S 1 0 1 "" NA18507 esv1001530 6 4982150 4984256 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564412 S 3 0 1 "" HuRef nsv513295 6 4982181 4984259 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626805 S 1 0 1 "" 1 esv3833 6 4982212 4984288 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26274 S 1 0 1 Single Asian sample YH "" YH esv6488 6 4982248 4984161 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28929 S 1 0 1 "" SJK esv28267 6 5057411 5057917 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12148 S 451 1 0 LYRM4 NA07037 nsv5179 6 5066823 5112026 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8210 S 9 0 1 LYRM4,MIR3691 NA12156 esv2469123 6 5079491 5081199 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248078 S 1 0 1 LYRM4 NA18507 esv1953097 6 5080040 5080835 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732973 S 1 0 1 LYRM4 NA18507 esv29679 6 5080172 5081001 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10064 S 451 0 2 LYRM4 NA06985,NA19099 esv1673345 6 5080354 5080410 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016915 S 2 0 1 LYRM4 HuRef esv259633 6 5093557 5093843 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394092,essv2393740,essv2393994 M 6 0 0 Samples from several populations that are part of the HapMap project. LYRM4 NA12878,NA19238,NA19239 esv260071 6 5093599 5093867 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397320,essv2400119,essv2394642,essv2398368,essv2396396,essv2397260,essv2395957,essv2397065 M 144 0 0 Samples from several populations that are part of the HapMap project. LYRM4 NA12878,NA18861,NA18870,NA19093,NA19138,NA19225,NA19238,NA19239 nsv522457 6 5190069 5205935 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705820 S 2026 0 1 LYRM4 nsv830578 6 5209085 5400569 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445217 S 95 1 0 FARS2 esv275561 6 5226293 5230171 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585893 S 1250 0 1 FARS2 nsv883417 6 5252431 5376339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559520 S 6533 0 1 FARS2 MS24011 nsv883418 6 5252431 5446388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577799 S 6533 0 1 FARS2 IS34572 nsv883419 6 5261398 5345657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537215 S 6533 0 1 FARS2 MS13114 esv272799 6 5293640 5293893 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580048,essv2580904,essv2579242,essv2579675 M 7 4 0 Samples from several populations that are part of the HapMap project. FARS2 NA12892,NA19238,NA19239,NA19240 esv268580 6 5293729 5294007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503178,essv2495434,essv2495310,essv2505103,essv2500223,essv2512432,essv2502870,essv2495380,essv2510308,essv2502557,essv2503817,essv2493391,essv2502842,essv2494293,essv2504219,essv2509664,essv2493727,essv2494816,essv2508947,essv2506167,essv2498309,essv2500458,essv2512991,essv2497216,essv2500044,essv2504555,essv2511276,essv2500681,essv2508113,essv2510085,essv2501581,essv2512940,essv2505311,essv2498611,essv2505941,essv2507222,essv2493972,essv2513428,essv2511157,essv2497875,essv2503522,essv2502488,essv2512278,essv2497404,essv2496010,essv2502609,essv2504771,essv2506555,essv2499176,essv2509592,essv2498890,essv2497546,essv2496902,essv2512078,essv2501917,essv2498122,essv2502271,essv2503623,essv2495764,essv2499549,essv2513106 M 157 61 0 Samples from several populations that are part of the HapMap project. FARS2 NA06986,NA07000,NA07357,NA10847,NA11881,NA11919,NA11992,NA11995,NA12006,NA12043,NA12156,NA12287,NA12414,NA12750,NA12761,NA12776,NA12892,NA18502,NA18505,NA18508,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18547,NA18552,NA18558,NA18563,NA18570,NA18571,NA18579,NA18593,NA18608,NA18609,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18944,NA18945,NA18947,NA18948,NA18949,NA18959,NA18961,NA18965,NA19099,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv1038059 6 5293761 5293761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954391 S 2 1 0 FARS2 HuRef nsv5180 6 5334196 5379353 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8211 S 9 0 1 FARS2 NA12156 esv32935 6 5397917 5398866 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97011,essv93664 M 51 0 2 FARS2 21817,21972 esv274274 6 5433836 5433996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580090,essv2580300,essv2580582 M 7 3 0 Samples from several populations that are part of the HapMap project. FARS2 NA12878,NA12891,NA19238 esv270572 6 5463673 5463758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517133 S 157 1 0 Samples from several populations that are part of the HapMap project. FARS2 hapmap_pooled_sample_set nsv883420 6 5469392 5529421 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586288 S 6533 0 1 FARS2 IS37730 esv272745 6 5470454 5470792 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581955,essv2582673,essv2583244,essv2584364,essv2583871 M 7 5 0 Samples from several populations that are part of the HapMap project. FARS2 NA12878,NA12891,NA12892,NA19238,NA19240 esv267822 6 5470454 5470794 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558069,essv2571720,essv2546236,essv2576612,essv2552068,essv2547124,essv2565542,essv2555005,essv2557037,essv2569389,essv2539145,essv2569959,essv2534491,essv2525644,essv2529807,essv2526369,essv2574912,essv2549946,essv2571474,essv2574244,essv2536266,essv2548810,essv2563129 M 157 23 0 Samples from several populations that are part of the HapMap project. FARS2 NA06986,NA07037,NA10847,NA10851,NA11840,NA11881,NA12154,NA12489,NA12717,NA12812,NA12872,NA18501,NA18508,NA18519,NA18593,NA18959,NA18980,NA19093,NA19114,NA19138,NA19225,NA19238,NA19240 nsv5181 6 5481920 5526594 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8213 S 9 0 1 FARS2 NA12156 esv1007519 6 5482697 5482697 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572119 S 3 1 0 FARS2 HuRef esv1603290 6 5482718 5482718 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327766 S 2 1 0 FARS2 HuRef nsv516648 6 5502148 5504058 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676433,nssv669871,nssv662546,nssv691857 M 2026 0 4 FARS2 nsv507312 6 5504472 5510472 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622960,nssv620332 M 4 2 0 FARS2 NA15510,NA18994 nsv517574 6 5505240 5505765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690462,nssv673736,nssv668221,nssv654108,nssv667160,nssv668158,nssv654484,nssv682359,nssv681319,nssv659229,nssv687458 M 2026 0 11 FARS2 nsv823406 6 5514235 5514940 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432071 S 31 0 1 FARS2 AK20 nsv823407 6 5637734 5651711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424235 S 31 0 1 FARS2 NA18582 nsv436891 6 5638801 6134784 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466257 S 2 1 0 Samples from several populations that are part of the HapMap project. F13A1,FARS2,NRN1 NA18505 nsv5182 6 5645218 5678577 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8214 S 9 1 0 FARS2 NA12156 nsv523206 6 5653305 5655256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698926 S 2026 0 1 FARS2 dgv369n21 6 5671230 5677819 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522675,nsv523810 M 2026 0 2 FARS2 nsv522836 6 5672249 5682121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698487 S 2026 0 1 FARS2 nsv823408 6 5673467 5674859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440162 S 31 0 1 FARS2 NA18547 nsv518398 6 5722545 5732399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694232 S 2026 0 1 "" nsv510011 6 5750618 5756618 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618227 S 4 0 1 "" CHM nsv5183 6 5766730 5811795 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8215 S 9 0 1 "" NA12156 esv26926 6 5767037 5767682 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12337 S 451 0 4 "" NA12006,NA12749,NA12828,NA18909 nsv513296 6 5841616 5845092 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626806 S 1 0 1 "" 1 nsv511336 6 5843374 5845267 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625633 S 1 0 1 "" 1 esv23449 6 5843382 5843837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13570 S 451 0 1 "" NA18505 esv4819 6 5843414 5844235 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27260 S 1 0 1 Single Asian sample YH "" YH esv2333109 6 5872554 5872955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867634 S 1 0 1 "" NA18507 nsv528693 6 5872558 5873288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705338 S 2026 0 1 "" esv993024 6 5872747 5872807 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578841 S 3 0 1 "" HuRef nsv10800 6 5890979 5893759 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13736 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19007 esv274338 6 5979735 5979967 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579894,essv2579082 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239 esv270140 6 5979742 5980072 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557815,essv2565613,essv2575897,essv2540724,essv2546349,essv2521182,essv2542351,essv2536759,essv2522729,essv2543827,essv2556711,essv2568212,essv2545580,essv2531984,essv2548213,essv2521791,essv2525365,essv2535443,essv2554199,essv2544488,essv2520351,essv2529162,essv2558602,essv2564545,essv2553684,essv2559660,essv2564298,essv2554983,essv2530647,essv2561768,essv2547060,essv2539942,essv2557117,essv2552698,essv2532346,essv2569336,essv2578816,essv2558727,essv2536809,essv2527303,essv2561308,essv2544732,essv2562915,essv2523495,essv2552967,essv2538202,essv2542744,essv2540310,essv2524398,essv2564904,essv2534534,essv2561067,essv2539746,essv2549477,essv2519711,essv2560097,essv2522049,essv2565965,essv2531169,essv2532593,essv2568049,essv2528928,essv2567426,essv2541457,essv2569969,essv2563714,essv2535699,essv2572265,essv2558968,essv2566965,essv2541989,essv2550952,essv2568948,essv2543648,essv2527921,essv2562540,essv2539352,essv2534008,essv2573172,essv2555311,essv2533511,essv2567075,essv2566477,essv2529989,essv2573907,essv2555818,essv2534477,essv2522621,essv2543074,essv2571959,essv2525758,essv2526935,essv2529643,essv2575482,essv2574997,essv2538557,essv2560763,essv2524232,essv2560868,essv2574911,essv2530201,essv2572925,essv2568500,essv2548144,essv2549780,essv2545899,essv2551332,essv2536024,essv2537822,essv2533101,essv2554435 M 157 111 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12006,NA12045,NA12144,NA12156,NA12249,NA12287,NA12414,NA12716,NA12749,NA12750,NA12751,NA12763,NA12776,NA12828,NA12872,NA12873,NA12874,NA12892,NA18489,NA18501,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18956,NA18959,NA18960,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19210,NA19225,NA19239,NA19257 esv1347242 6 5979775 5979775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587987 S 2 1 0 "" HuRef esv2122486 6 5990832 5991598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4516129 S 1 0 1 "" NA18507 esv1105043 6 5990982 5990982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333358 S 2 1 0 "" HuRef esv1708717 6 5991757 5991757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846795 S 2 1 0 "" HuRef nsv507313 6 5993499 5999499 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617699 S 4 1 0 "" CHM esv1002510 6 6013626 6014256 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563590 S 3 0 1 "" HuRef esv3761 6 6013808 6014280 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26202 S 1 0 1 Single Asian sample YH "" YH esv1327944 6 6013848 6014189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144360 S 2 0 1 "" HuRef nsv526207 6 6042535 6059381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702470 S 2026 0 1 "" nsv521620 6 6059381 6074504 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698239 S 2026 0 1 "" nsv883421 6 6108491 6519383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590253 S 6533 1 0 F13A1,LY86-AS1 IS38477 nsv883422 6 6108491 6714929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582818 S 6533 1 0 F13A1,LY86,LY86-AS1 IS36172 nsv5184 6 6109017 6141963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv524 S 9 1 0 F13A1 NA19240 nsv520166 6 6200850 6201832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661336,nssv678828 M 2026 0 2 F13A1 esv1009363 6 6204900 6207574 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565202 S 3 1 0 F13A1 HuRef esv2500161 6 6221774 6223307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380358 S 1 0 1 F13A1 NA18507 esv2245687 6 6222142 6222795 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825938 S 1 0 1 F13A1 NA18507 esv2485689 6 6222347 6222608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178574 S 1 0 1 F13A1 NA18507 esv1659194 6 6222354 6222616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313841 S 2 0 1 F13A1 HuRef esv2383897 6 6261115 6261566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668720 S 1 0 1 F13A1 NA18507 esv2605227 6 6261314 6261369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205177 S 1 0 1 F13A1 NA18507 nsv470796 6 6287179 6314188 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544442 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LY86-AS1 HGDP00657 nsv515855 6 6377963 6393218 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663658,nssv665025,nssv680177,nssv668686,nssv670723,nssv681347,nssv654715,nssv662952,nssv655157,nssv660850,nssv669762 M 2026 11 0 LY86-AS1 nsv521943 6 6465930 6476683 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694712 S 2026 1 0 LY86-AS1 esv2569521 6 6482425 6483299 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334538 S 1 1 0 LY86-AS1 NA18507 esv2071499 6 6543775 6544213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565075 S 1 0 1 LY86,LY86-AS1 NA18507 esv2565676 6 6557541 6559163 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198052 S 1 0 1 LY86,LY86-AS1 NA18507 esv2156368 6 6557917 6558317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547703 S 1 0 1 LY86,LY86-AS1 NA18507 nsv883423 6 6604373 6646208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590254 S 6533 1 0 "" IS38477 nsv883424 6 6667491 6714929 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590255 S 6533 1 0 "" IS38477 esv27196 6 6687180 6690011 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19618 S 451 1 0 "" NA15510 nsv524314 6 6731466 6936303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700216 S 2026 1 0 "" dgv6431n71 6 6735059 6818601 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883426,nsv883425 M 6533 2 0 "" IS40055,IS40318 nsv528747 6 6748437 6753207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705408 S 2026 0 1 "" esv2607323 6 6766898 6767839 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382704 S 1 1 0 "" NA18507 esv26778 6 6782740 6783387 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13046 S 451 0 1 "" NA18907 esv275441 6 6802268 6805746 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585147 S 1250 0 1 "" nsv348614 6 6851716 6855663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367192 M 24 "" nsv823410 6 6852732 6853362 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430603 S 31 0 1 "" AK16 nsv883427 6 6857694 6950641 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529037 S 6533 1 0 "" SP81431 esv2004098 6 6861463 6861884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964963 S 1 0 1 "" NA18507 esv259625 6 6881715 6881974 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394134,essv2393826 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv5185 6 6886307 6918735 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6050 S 9 1 0 "" NA12156 nsv883428 6 6887917 7027632 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541040 S 6533 1 0 "" MS15168 esv21747 6 6898601 6899513 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15708 S 451 0 1 "" NA12878 nsv883429 6 6919308 6942160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542884 S 6533 0 1 "" MS15926 nsv5186 6 6922858 6967558 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8216 S 9 0 1 "" NA12156 nsv830579 6 6939549 6980065 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445233,nssv1445236,nssv1445243,nssv1445238,nssv1445241,nssv1445235,nssv1445239,nssv1445237,nssv1445245,nssv1445244,nssv1445246,nssv1445234,nssv1445222,nssv1445232,nssv1445227,nssv1445219,nssv1445221,nssv1445220,nssv1445223,nssv1445226,nssv1445242,nssv1445225,nssv1445224,nssv1445231,nssv1445230,nssv1445228 M 95 0 26 "" nsv349979 6 7001261 7005010 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368557 M 24 "" nsv883430 6 7016872 7098151 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529038 S 6533 1 0 RREB1 SP81431 nsv823411 6 7084077 7084637 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436647 S 31 1 0 RREB1 NA18542 nsv883431 6 7140008 7254149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541041 S 6533 1 0 RREB1,SSR1 MS15168 nsv883432 6 7159498 7223328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530533 S 6533 0 1 RREB1 MS10311 nsv818397 6 7170994 7192247 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417302 S 112 0 1 RREB1 NA18608 esv27197 6 7216949 7218958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17429 S 451 0 3 "" NA12489,NA18511,NA18909 esv2535576 6 7217168 7219218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327015 S 1 0 1 "" NA18507 nsv462623 6 7223328 7491403 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538736 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAGE1,DSP,RIOK1,SSR1 HGDP00542 nsv470797 6 7233296 7491403 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544444 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CAGE1,DSP,RIOK1,SSR1 HGDP00542 esv26028 6 7260492 7262717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14356,esv19431 M 451 0 3 "" NA18502,NA18523,NA19108 nsv883433 6 7272845 7651003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562361 S 6533 1 0 CAGE1,DSP,RIOK1,SNRNP48 MS25526 dgv6432n71 6 7376758 7449356 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883435,nsv883434 M 6533 2 0 "" SP54275,SP54685 nsv511319 6 7382356 7388482 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625443 S 1 0 1 "" 1 dgv1901e1 6 7384069 7448784 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1046,essv5000 M 271 0 0 "" NA18571 esv35087 6 7384069 7454584 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986888,essv6979556,essv6979555 M 771 1 0 "" NA18571 esv22882 6 7387235 7388507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10684,esv21342 M 451 0 5 "" NA07045,NA11931,NA12006,NA12828,NA12878 esv33195 6 7449371 7486143 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93668 S 51 0 1 "" 21972 nsv830580 6 7459074 7663575 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445247 S 95 1 0 DSP,SNRNP48 nsv5189 6 7512348 7545333 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6051 S 9 1 0 DSP,SNRNP48 NA12156 nsv462624 6 7525957 7611665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538737 S 1557 0 1 DSP,SNRNP48 1780854485_A dgv370n21 6 7545426 7546435 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519417,nsv519295 M 2026 0 3 SNRNP48 nsv819694 6 7546248 7548030 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419327 S 2 1 0 SNRNP48 AK1 nsv5190 6 7548683 7593784 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8217 S 9 0 1 SNRNP48 NA12156 nsv5191 6 7551460 7585171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2718 S 9 1 0 SNRNP48 NA18555 nsv437957 6 7574576 7578276 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468712,nssv468713 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12865,NA12875 nsv830582 6 7652079 7834700 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445248 S 95 0 1 BMP6,MUTED-TXNDC5,TXNDC5 esv272257 6 7658036 7658121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581033 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv2579022 6 7661846 7663446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240336 S 1 0 1 "" NA18507 esv1917753 6 7662181 7662912 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577769 S 1 0 1 "" NA18507 esv4030 6 7662339 7662815 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26471 S 1 0 1 Single Asian sample YH "" YH esv8985 6 7662366 7662700 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31426 S 1 0 1 "" SJK esv2464732 6 7662371 7662705 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278706 S 1 0 1 "" NA18507 esv1541337 6 7662383 7662718 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940982 S 2 0 1 "" HuRef esv33781 6 7670764 7671019 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98529 S 51 0 1 "" 22085 esv33520 6 7671442 7674249 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99860 S 51 1 0 BMP6 22086 nsv525566 6 7679058 7680787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701705 S 2026 0 1 BMP6 nsv348521 6 7686614 7686749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367099 M 24 BMP6 esv28982 6 7726528 7727584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19508 S 451 0 3 BMP6 NA07037,NA12006,NA12828 nsv526828 6 7737583 7738304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703185 S 2026 0 1 BMP6 nsv522173 6 7737583 7741654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694138 S 2026 0 1 BMP6 esv25960 6 7737952 7738649 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21037 S 451 1 0 BMP6 NA19114 nsv462625 6 7813865 7852138 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538738 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BMP6,MUTED-TXNDC5,TXNDC5 HGDP01023 nsv462626 6 7894805 7919866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538739 S 1557 0 1 MUTED-TXNDC5 1780862304_A nsv819508 6 7939205 7943199 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419599 S 2 0 1 MUTED-TXNDC5 AK1 esv270535 6 7973901 7974250 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510799,essv2496361,essv2496276,essv2493798,essv2494802,essv2506115,essv2498386,essv2494090,essv2509265,essv2495515,essv2506437,essv2496908,essv2493849 M 157 13 0 Samples from several populations that are part of the HapMap project. EEF1E1-MUTED,MUTED,MUTED-TXNDC5 NA18501,NA18510,NA18511,NA18517,NA18519,NA18523,NA18858,NA18871,NA18909,NA18916,NA19108,NA19190,NA19210 esv269821 6 8055903 8055988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515796 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18969 esv23009 6 8111300 8115838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18624 S 451 0 1 "" NA19147 dgv371n21 6 8111629 8116105 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521654,nsv524165 M 2026 0 2 "" nsv830583 6 8151680 8342635 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445249 S 95 1 0 "" nsv513297 6 8171292 8173388 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626807 S 1 0 1 "" 1 esv2563643 6 8172725 8174236 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203640 S 1 0 1 "" NA18507 esv2080066 6 8172738 8173433 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666049 S 1 0 1 "" NA18507 esv3087 6 8172867 8173325 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25528 S 1 0 1 Single Asian sample YH "" YH esv8325 6 8172921 8173240 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30766 S 1 0 1 "" SJK nsv349058 6 8172923 8173240 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367636 M 24 "" esv1002352 6 8172931 8173248 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583451 S 3 0 1 "" HuRef esv1299979 6 8172938 8173256 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988529 S 2 0 1 "" HuRef esv1718253 6 8199502 8199502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330755 S 2 1 0 "" HuRef esv1331882 6 8199655 8199655 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890081 S 2 1 0 "" HuRef nsv830584 6 8233504 8406276 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445250 S 95 0 1 LOC100506207,SLC35B3 nsv5192 6 8263959 8318881 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8218,nssv8219 M 9 0 1 "" NA12156 esv1002772 6 8280554 8288430 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563809 S 3 0 1 "" HuRef nsv508391 6 8281013 8301702 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617515 S 4 0 1 "" CHM nsv513298 6 8282300 8286662 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626808 S 1 0 1 "" 1 nsv511335 6 8282388 8289006 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625622 S 1 0 1 "" 1 nsv514343 6 8282549 8286286 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627791 S 1414 0 1 "" dgv995n67 6 8282615 8286710 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823413,nsv823412,nsv823414 M 31 0 3 "" AK8,NA18552,NA18592 esv27793 6 8282687 8286532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17799 S 451 0 9 "" NA06985,NA12044,NA12156,NA12287,NA12489,NA12749,NA15510,NA18511,NA19240 nsv5193 6 8296403 8330501 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8220 S 9 1 0 "" NA12156 esv995229 6 8305505 8312270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564255 S 3 0 1 "" HuRef dgv996n67 6 8313485 8314680 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823416,nsv823415 M 31 0 2 "" AK8,NA18526 nsv823417 6 8313739 8314446 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426705 S 31 0 1 "" NA18947 nsv823418 6 8377423 8380215 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429830 S 31 0 1 SLC35B3 AK14 nsv507314 6 8486316 8492316 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617700,nssv621829,nssv620333,nssv622961 M 4 4 0 LOC100506207 CHM,NA10860,NA15510,NA18994 nsv516441 6 8500543 8501366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691073,nssv668430 M 2026 0 2 LOC100506207 esv272239 6 8528634 8529242 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581089 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC100506207 NA19240 esv1534032 6 8542532 8542532 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116376 S 2 1 0 LOC100506207 HuRef esv275362 6 8628746 8637415 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586168 S 1250 0 1 LOC100506207 nsv883436 6 8745764 8822783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553644 S 6533 1 0 "" MS20236 nsv883437 6 8752899 8798849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528686 S 6533 0 1 "" SP81348 nsv512865 6 8773322 8773376 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625507 S 1 1 0 "" 1 nsv507315 6 8798974 8804974 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622962 S 4 1 0 "" NA18994 esv1007885 6 8847165 8847165 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575525 S 3 1 0 "" HuRef esv1005600 6 8847223 8847223 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578962 S 3 1 0 "" HuRef esv1132550 6 8847224 8847224 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597416 S 2 1 0 "" HuRef nsv349558 6 8847225 8847225 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368136 M 24 "" esv22363 6 8869867 8877952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14936 S 451 0 1 "" NA11993 nsv441982 6 8872510 8878097 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv372n21 6 8872893 8878656 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516621,nsv525205 M 2026 0 13 "" nsv470798 6 8878656 9085657 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544446,nssv544445 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00585,HGDP00598 nsv519164 6 8931481 9082280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696646 S 2026 0 1 "" nsv462629 6 8948237 9085657 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538740 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00598 nsv348677 6 8951909 8953498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367255 M 24 "" esv1970983 6 8959622 8960148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894860 S 1 0 1 "" NA18507 esv4130 6 8959687 8960087 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26571 S 1 0 1 Single Asian sample YH "" YH nsv348717 6 8959832 8959939 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367295 M 24 "" esv2147488 6 8970549 8970974 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967353 S 1 0 1 "" NA18507 esv1591725 6 8970728 8970779 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804024 S 2 0 1 "" HuRef nsv823419 6 9014504 9014995 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435109 S 31 1 0 "" NA18942 esv2442714 6 9019398 9020914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178955 S 1 0 1 "" NA18507 esv1006183 6 9019874 9020743 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565144 S 3 0 1 "" HuRef esv1919886 6 9020112 9020799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4817772 S 1 0 1 "" NA18507 esv9460 6 9020286 9020621 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31901 S 1 0 1 "" SJK esv1362562 6 9020291 9020612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893144 S 2 0 1 "" HuRef nsv823421 6 9063920 9077995 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437460 S 31 1 0 "" NA18949 dgv6433n71 6 9069974 9343593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883438,nsv883439 M 6533 0 2 "" IS38217,IS39530 esv27494 6 9122165 9122922 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13586 S 451 2 0 "" NA15510,NA19108 nsv507316 6 9122206 9128206 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622963 S 4 1 0 "" NA18994 nsv508392 6 9146106 9359633 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622541,nssv618783,nssv619970 M 4 0 3 "" NA10860,NA15510,NA18994 esv275142 6 9150469 9363165 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585513,essv2585282 M 1250 1 1 "" nsv883440 6 9250648 9343593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554501 S 6533 0 1 "" MS20843 esv2752132 6 9372877 9436505 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984363,essv6984362 M 771 1 0 "" BEC_694 dgv997n67 6 9381715 9382556 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823422,nsv823423 M 31 0 11 "" AK12,AK14,AK16,AK2,AK4,AK6,NA18547,NA18564,NA18582,NA18592,NA18942 esv9092 6 9381789 9382949 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31533 S 1 0 1 "" SJK esv26316 6 9381868 9382879 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11263 S 451 0 3 "" NA12004,NA18502,NA18907 nsv883441 6 9445555 9491426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518350 S 6533 1 0 "" SP57506 nsv510012 6 9477641 9483641 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621276 S 4 0 1 "" NA15510 nsv510013 6 9527427 9533427 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618228 S 4 0 1 "" CHM esv7696 6 9546732 9546802 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30137 S 1 1 0 "" SJK esv1998217 6 9568177 9568891 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4666292 S 1 0 1 "" NA18507 esv4272 6 9568328 9568763 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26713 S 1 0 1 Single Asian sample YH "" YH nsv349434 6 9568364 9568700 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368012 M 24 "" esv998092 6 9568367 9568703 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575858 S 3 0 1 "" HuRef esv6639 6 9568377 9568705 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29080 S 1 0 1 "" SJK esv2635007 6 9576119 9577674 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287719 S 1 0 1 "" NA18507 nsv507317 6 9576247 9582247 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617701 S 4 1 0 "" CHM esv1007239 6 9616845 9617407 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587169 S 3 0 1 "" HuRef esv2528236 6 9625270 9626238 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320172 S 1 1 0 "" NA18507 esv1152453 6 9625723 9625723 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749199 S 2 1 0 "" HuRef nsv526385 6 9632180 9638005 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702683 S 2026 1 0 "" nsv830585 6 9633625 9791611 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445252 S 95 1 0 "" nsv462630 6 9645597 9691338 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538741 S 1557 0 1 "" 1780846029_A nsv348706 6 9646117 9653682 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367284 M 24 "" nsv528881 6 9674658 9699383 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705561 S 2026 0 1 "" nsv349575 6 9677516 9677516 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368153 M 24 "" nsv883442 6 9694799 9873224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554502 S 6533 0 1 "" MS20843 nsv525621 6 9698762 9873879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701767 S 2026 0 1 "" nsv5194 6 9807766 9836549 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4890 S 9 1 0 "" NA19129 esv274468 6 9810189 9810506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579904 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv269115 6 9810202 9810536 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558226,essv2540936,essv2571643,essv2521058,essv2536405,essv2571065,essv2556576,essv2523089,essv2531794,essv2546799,essv2532255,essv2555920,essv2574821,essv2568604,essv2560418,essv2548841,essv2554472 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10851,NA11831,NA11840,NA11894,NA11920,NA11993,NA11994,NA12004,NA12006,NA12892,NA18505,NA18956,NA19138,NA19147,NA19190 esv28491 6 9870134 9873442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19634 S 451 0 1 "" NA18861 nsv515776 6 9873224 9873879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664744,nssv663093,nssv667097,nssv670179 M 2026 0 4 "" nsv526992 6 9930143 9958913 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703366 S 2026 1 0 "" nsv510014 6 9974931 9980931 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621277 S 4 0 1 "" NA15510 esv271656 6 9984880 9984977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510627,essv2505978,essv2509287 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18861,NA18909 nsv883443 6 10113693 10136216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548968,nssv1542260,nssv1539467 M 6533 0 3 "" MS14336,MS15743,MS17964 nsv516522 6 10170597 10177720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669257,nssv658513,nssv678650,nssv691398,nssv670256,nssv678154,nssv668857 M 2026 0 7 "" nsv441984 6 10175992 10177866 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2610910 6 10178163 10179761 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303676 S 1 0 1 "" NA18507 esv2403167 6 10178592 10179294 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584703 S 1 0 1 "" NA18507 esv4467 6 10178705 10179190 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26908 S 1 0 1 Single Asian sample YH "" YH esv990643 6 10178778 10179090 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577951 S 3 0 1 "" HuRef esv1322113 6 10178791 10179104 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794056 S 2 0 1 "" HuRef esv7094 6 10178795 10179104 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29535 S 1 0 1 "" SJK nsv818398 6 10205002 10212993 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416936,nssv1416937 M 112 0 2 "" NA19138,NA19139 nsv520850 6 10301747 10308664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676343,nssv676763 M 2026 0 2 "" esv2190499 6 10310565 10310931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908293 S 1 0 1 "" NA18507 dgv6434n71 6 10314708 10375214 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883445,nsv883444 M 6533 2 0 "" IS30683,IS38549 nsv522055 6 10316808 10320446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694826 S 2026 0 1 "" esv26437 6 10326580 10327325 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10282 S 451 1 0 "" NA18861 esv2544903 6 10372196 10374507 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362589 S 1 0 1 "" NA18507 nsv511849 6 10372273 10373759 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624379 S 1 0 1 "" 1 esv1393629 6 10372422 10373264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783063 S 2 0 1 "" HuRef esv2282748 6 10401796 10402186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814286 S 1 0 1 "" NA18507 esv2603259 6 10401982 10402126 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374538 S 1 0 1 "" NA18507 esv1125615 6 10427789 10427789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231745 S 2 1 0 "" HuRef nsv883446 6 10432517 10466681 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600142 S 6533 0 1 "" IS41848 dgv1902e1 6 10551783 10751118 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv658,essv19694 M 271 0 0 GCNT2 NA12264 nsv462631 6 10557244 10947745 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538742 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C6orf52,GCNT2,MAK,PAK1IP1,TMEM14B,TMEM14C HGDP00542 esv34437 6 10565096 10649199 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978801,essv6978800 M 771 0 1 GCNT2 NA12264 nsv436989 6 10574024 10620308 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466870 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 dgv1903e1 6 10574157 10664858 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20982,essv23317 M 271 0 0 GCNT2 NA10863,NA12264 nsv10801 6 10574226 10639455 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14556 S 31 0 1 Samples from several populations that are part of the HapMap project. GCNT2 NA10863 dgv738n27 6 10575681 10636780 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462634,nsv462633,nsv462632 M 1557 0 3 GCNT2 1780862519_A,HGDP00795,HGDP00797 nsv818399 6 10577812 10636780 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417527,nssv1417516 M 112 0 2 GCNT2 NA10863,NA12264 dgv373n21 6 10577812 10650762 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522231,nsv520598 M 2026 0 5 GCNT2 nsv437958 6 10579023 10636780 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468716,nssv468714,nssv468717,nssv468715 M 269 0 2 Samples from several populations that are part of the HapMap project. GCNT2 NA10863,NA12264 esv33391 6 10580456 10637208 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98922,essv98923,essv100847,essv100901,essv96784,essv95144,essv94385,essv95881,essv98584,essv99791,essv99229,essv97639,essv100215 M 51 6 7 GCNT2 21606,21656,21659,21721,21808,21911,22085,22086,22275,22278,22286 nsv883447 6 10586428 10609240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576893 S 6533 0 1 "" IS34304 nsv470799 6 10589376 10610996 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544447 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00542 esv2306188 6 10595602 10595970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810076 S 1 0 1 "" NA18507 esv1761721 6 10595710 10595788 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3727457 S 2 0 1 "" HuRef nsv883448 6 10610996 10636204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590049,nssv1536649,nssv1591199,nssv1579776 M 6533 0 4 GCNT2 IS35180,IS38449,IS38651,MS12876 nsv436990 6 10620308 10638172 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466871 S 60 0 1 Samples from several populations that are part of the HapMap project. GCNT2 NA10863 nsv883449 6 10620308 10646931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529613 S 6533 0 1 GCNT2 MS10074 nsv5195 6 10623556 10657973 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2719 S 9 1 0 GCNT2 NA18555 nsv470800 6 10646930 10971311 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544448 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C6orf52,GCNT2,MAK,PAK1IP1,TMEM14B,TMEM14C HGDP00542 nsv349183 6 10690595 10690595 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367761 M 24 GCNT2 esv1486633 6 10714894 10714894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023706 S 2 1 0 GCNT2 HuRef esv21910 6 10766024 10767491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10368 S 451 0 3 "" NA18508,NA18523,NA19114 nsv520853 6 10779750 10832546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697650 S 2026 0 1 C6orf52,PAK1IP1,TMEM14C esv22672 6 10849095 10853159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21036 S 451 0 1 "" NA18508 nsv5196 6 10918858 10953538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv525 S 9 1 0 MAK NA19240 nsv5197 6 10933516 10978606 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8222 S 9 0 1 MAK NA12156 nsv519302 6 10987982 11000485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672641,nssv655246 M 2026 0 2 GCM2,SYCP2L nsv348982 6 11014836 11016111 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367560 M 24 SYCP2L nsv519009 6 11033789 11046090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696478 S 2026 0 1 SYCP2L esv2506207 6 11069852 11069859 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280740 S 1 1 0 SYCP2L NA18507 nsv5198 6 11150895 11182640 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10486 S 9 1 0 ELOVL2,LOC100506409 NA18956 esv267787 6 11159717 11159802 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518456,essv2515042,essv2516577,essv2516108 M 157 4 0 Samples from several populations that are part of the HapMap project. LOC100506409 NA12287,NA12812,NA12814,NA12873 nsv823424 6 11168031 11195183 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436648 S 31 0 1 LOC100506409 NA18542 dgv998n67 6 11180305 11185587 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823426,nsv823425 M 31 0 2 LOC100506409 AK20,NA18997 nsv818401 6 11182177 11191962 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417147 S 112 0 1 LOC100506409 NA18542 nsv441985 6 11182288 11185184 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100506409 nsv515027 6 11184491 11185180 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627032 S 1414 0 0 LOC100506409 esv7143 6 11311607 11311656 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29584 S 1 1 0 NEDD9 SJK esv6920 6 11319139 11320150 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29361 S 1 0 0 NEDD9 SJK esv2514916 6 11427840 11427936 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294636 S 1 0 1 NEDD9 NA18507 esv7888 6 11552326 11552642 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30329 S 1 0 1 "" SJK esv26816 6 11585407 11591518 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18391 S 451 1 0 "" NA12749 esv2588362 6 11599440 11600153 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214661 S 1 1 0 "" NA18507 esv2651701 6 11599805 11600070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359913 S 1 0 1 "" NA18507 nsv507318 6 11615469 11621469 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621830 S 4 1 0 "" NA10860 esv2514109 6 11663470 11665046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319115 S 1 0 1 TMEM170B NA18507 esv990232 6 11663603 11664510 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563482 S 3 0 1 TMEM170B HuRef esv2007122 6 11663883 11664592 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914753 S 1 0 1 TMEM170B NA18507 esv3032 6 11664035 11664561 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25473 S 1 0 1 Single Asian sample YH TMEM170B YH esv9101 6 11664083 11664398 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31542 S 1 0 1 TMEM170B SJK esv1451399 6 11664092 11664412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957812 S 2 0 1 TMEM170B HuRef esv2526594 6 11682358 11683832 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197913 S 1 0 1 TMEM170B NA18507 nsv5200 6 11689885 11716915 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8223 S 9 1 0 TMEM170B NA12156 esv2128592 6 11724078 11724600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570499 S 1 0 1 "" NA18507 esv5304 6 11724233 11724493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27745 S 1 0 1 Single Asian sample YH "" YH esv994799 6 11724265 11724395 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583207 S 3 0 1 "" HuRef esv1233154 6 11724274 11724405 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591642 S 2 0 1 "" HuRef dgv1904e1 6 11787739 11930337 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv378,essv13441 M 271 0 0 C6orf105 NA19192 nsv522039 6 11877266 11879245 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694809 S 2026 1 0 C6orf105 esv23206 6 11894454 11899783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12435 S 451 0 1 "" NA12239 nsv5201 6 11941952 11987222 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8224 S 9 0 1 "" NA12156 esv2574880 6 12010554 12012139 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362138 S 1 0 1 "" NA18507 esv2136549 6 12011236 12011944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608596 S 1 0 1 "" NA18507 dgv221n6 6 12011423 12011750 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv348565,nsv350080 M 24 "" esv999976 6 12011426 12011737 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577851 S 3 0 1 "" HuRef esv7900 6 12011437 12011719 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30341 S 1 0 1 "" SJK esv1726435 6 12011438 12011750 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702266 S 2 0 1 "" HuRef esv267427 6 12030538 12030685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512489,essv2510655,essv2496407,essv2500931,essv2494098,essv2513561,essv2495590,essv2499153,essv2497007,essv2499783,essv2502073 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18510,NA18856,NA18871,NA18907,NA18916,NA19114,NA19190,NA19225,NA19257 nsv519516 6 12046658 12050357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696895 S 2026 0 1 "" esv2427616 6 12053395 12054700 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363577 S 1 0 1 "" NA18507 esv22880 6 12116046 12121785 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12680,esv10446 M 451 1 1 HIVEP1 NA12044,NA15510 esv273428 6 12210032 12210444 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580665 S 7 1 0 Samples from several populations that are part of the HapMap project. HIVEP1 NA19238 esv268157 6 12210133 12210474 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543858,essv2535058,essv2554247,essv2537621,essv2546635,essv2539172,essv2559999,essv2569931,essv2572253,essv2569197,essv2556207,essv2573306,essv2529689,essv2526490,essv2574968 M 157 15 0 Samples from several populations that are part of the HapMap project. HIVEP1 NA11992,NA12249,NA12287,NA12878,NA12892,NA18519,NA18570,NA18593,NA18609,NA18861,NA18871,NA18969,NA19093,NA19114,NA19138 nsv509116 6 12212986 12246507 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618049 S 4 1 0 HIVEP1 CHM nsv830586 6 12238062 12403320 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445253 S 95 1 0 EDN1,HIVEP1 nsv508394 6 12393450 12494731 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618784 S 4 0 1 EDN1 NA10860 nsv509117 6 12393450 12494731 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620844 S 4 1 0 EDN1 NA15510 nsv525684 6 12409448 12415250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701842 S 2026 0 1 "" nsv528681 6 12448020 12470205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705323 S 2026 0 1 "" nsv349011 6 12481525 12481607 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367589 M 24 "" dgv999n67 6 12501208 12502186 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823427,nsv823428 M 31 0 5 "" AK20,NA18552,NA18969,NA18973,NA18999 esv994442 6 12532787 12549961 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564714 S 3 0 0 "" HuRef nsv513664 6 12537432 12540412 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626916 S 1 0 0 "" 1 esv9080 6 12539863 12540384 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31521 S 1 0 0 "" SJK nsv435986 6 12540543 12543046 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466258 S 2 0 0 "" NA15510 nsv510015 6 12557277 12563277 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622106 S 4 0 1 "" NA10860 nsv470801 6 12667225 12774079 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544449 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00959 nsv462638 6 12677217 12759235 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538746 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00959 nsv348933 6 12772175 12772496 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367511 M 24 "" dgv84n68 6 12877647 13080479 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv830587,nsv830588 M 95 0 2 PHACTR1 nsv5202 6 13024215 13066503 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8225 S 9 0 1 PHACTR1 NA12156 nsv5203 6 13230862 13254490 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv526,nssv2720 M 9 2 0 PHACTR1 NA18555,NA19240 nsv509118 6 13233806 13234892 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623468 S 4 1 0 PHACTR1 NA18994 nsv511118 6 13233806 13274842 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621587 S 4 0 0 PHACTR1 NA15510 esv996531 6 13236343 13236932 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564906 S 3 1 0 PHACTR1 HuRef nsv507319 6 13251030 13257030 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622964,nssv621831 M 4 2 0 PHACTR1 NA10860,NA18994 nsv883450 6 13274327 13303990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563431 S 6533 0 1 PHACTR1 MS26017 nsv5204 6 13285391 13311798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10487,nssv2570 M 9 2 0 PHACTR1 NA18555,NA18956 esv267579 6 13298972 13305049 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514555,essv2519304,essv2518501,essv2516544,essv2515946,essv2517803,essv2516278,essv2516925,essv2519341 M 157 9 0 Samples from several populations that are part of the HapMap project. PHACTR1 NA07346,NA11840,NA11894,NA12287,NA12814,NA12873,NA12878,NA12891,NA12892 esv27395 6 13298974 13300915 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11217,esv10481 M 451 0 7 PHACTR1 NA11995,NA18502,NA18511,NA18523,NA18907,NA18909,NA19099 esv273116 6 13298978 13305050 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580198,essv2579838 M 7 2 0 Samples from several populations that are part of the HapMap project. PHACTR1 NA12878,NA12892 esv1978352 6 13326879 13327317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939701 S 1 0 1 PHACTR1 NA18507 esv2535563 6 13338428 13339969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387277 S 1 0 1 PHACTR1 NA18507 esv4766 6 13339380 13339941 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27207 S 1 0 1 Single Asian sample YH PHACTR1 YH esv1092896 6 13339408 13339537 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294223 S 2 0 1 PHACTR1 HuRef esv25099 6 13406896 13408079 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10875 S 451 0 1 "" NA11931 esv273199 6 13531180 13531577 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579204 S 7 1 0 Samples from several populations that are part of the HapMap project. GFOD1 NA19239 nsv462640 6 13534518 13627413 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538747 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GFOD1 HGDP01302 nsv470802 6 13549403 13627350 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544450 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GFOD1 HGDP01302 esv1029682 6 13567575 13567575 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959849 S 2 1 0 GFOD1 HuRef nsv520921 6 13582041 13587095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691238,nssv677705 M 2026 0 2 GFOD1 nsv5205 6 13601018 13615424 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6052,nssv3418,nssv4891 M 9 3 0 "" NA12156,NA12878,NA19129 nsv509119 6 13603363 13632485 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623469,nssv620845,nssv619444 M 4 3 0 "" NA10860,NA15510,NA18994 esv271234 6 13610992 13611077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516734,essv2519301,essv2517383,essv2515504,essv2518508,essv2514905,essv2516483,essv2517763,essv2518985 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA12249,NA12287,NA12812,NA12814,NA12878,NA19141 esv274126 6 13610992 13611077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581632 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1007235 6 13611014 13611028 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564400 S 3 1 0 "" HuRef nsv5206 6 13626664 13635187 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2571 S 9 1 0 "" NA18555 esv1317748 6 13629245 13629245 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4293731 S 2 1 0 "" HuRef esv1262080 6 13650359 13650519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172604 S 2 0 1 "" HuRef esv2299523 6 13740142 13740538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709638 S 1 0 1 RANBP9 NA18507 dgv6435n71 6 13812320 13841544 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883451,nsv883452 M 6533 0 3 RANBP9 SP51109,SP54725,SP54956 esv273632 6 13826408 13826577 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580378,essv2579924 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv268978 6 13826428 13826745 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557793,essv2565757,essv2540977,essv2571599,essv2546263,essv2525839,essv2522678,essv2556624,essv2568077,essv2523402,essv2531868,essv2577487,essv2570711,essv2548383,essv2521596,essv2550699,essv2544343,essv2520556,essv2547600,essv2529416,essv2578112,essv2559517,essv2520235,essv2564026,essv2555168,essv2530849,essv2562100,essv2528573,essv2546666,essv2540141,essv2557485,essv2556830,essv2552588,essv2551713,essv2532146,essv2569303,essv2578595,essv2537166,essv2539173,essv2569756,essv2527066,essv2561411,essv2544768,essv2562940,essv2523573,essv2552899,essv2542716,essv2524511,essv2534836,essv2539797,essv2549563,essv2519873,essv2531237,essv2532741,essv2567997,essv2528695,essv2567648,essv2541507,essv2570336,essv2563666,essv2535618,essv2542022,essv2550865,essv2569001,essv2543669,essv2556321,essv2527992,essv2562267,essv2534108,essv2573103,essv2555288,essv2530040,essv2531424,essv2573427,essv2543216,essv2525550,essv2526863,essv2529531,essv2575498,essv2538804,essv2524062,essv2574704,essv2530429,essv2568728,essv2545161,essv2549668,essv2546069,essv2551546,essv2535951,essv2548740,essv2554412,essv2548032,essv2524795 M 157 93 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA07357,NA10851,NA11829,NA11831,NA11840,NA11881,NA11918,NA11931,NA11994,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12414,NA12716,NA12717,NA12749,NA12761,NA12776,NA12815,NA12828,NA12872,NA12873,NA12874,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18550,NA18555,NA18561,NA18563,NA18564,NA18566,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18943,NA18949,NA18961,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19108,NA19129,NA19138,NA19141,NA19147,NA19172,NA19225,NA19239,NA19257 nsv349842 6 13870206 13870206 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368420 M 24 "" nsv349719 6 13913026 13917938 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368297 M 24 CCDC90A esv7734 6 13943101 13973723 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30175 S 1 0 0 "" SJK nsv511850 6 13990491 13992103 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624380 S 1 0 1 "" 1 esv1424855 6 14001980 14001980 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107780 S 2 1 0 "" HuRef nsv527420 6 14172252 14196281 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703858 S 2026 0 1 "" esv1003643 6 14194561 14194561 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583882 S 3 1 0 "" HuRef esv271358 6 14241964 14242071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505810,essv2507142,essv2501308,essv2504838,essv2506488 M 157 5 0 Samples from several populations that are part of the HapMap project. CD83 NA18861,NA18870,NA19093,NA19099,NA19108 esv21751 6 14253544 14255525 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20949,esv14918 M 451 15 0 "" NA07045,NA11931,NA11993,NA11995,NA12006,NA12287,NA12414,NA12749,NA12828,NA12878,NA18907,NA19108,NA19114,NA19129,NA19190 nsv830589 6 14298260 14458529 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445256 S 95 1 0 "" esv991064 6 14309198 14320138 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565063 S 3 0 1 "" HuRef nsv462641 6 14311851 14872962 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538748 S 1557 0 1 "" 1780862226_A nsv830590 6 14361073 14551112 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445257 S 95 0 1 "" nsv830591 6 14387182 14585872 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445258 S 95 1 0 "" nsv526218 6 14387330 14392006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702482 S 2026 0 1 "" nsv819932 6 14488051 14489296 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419211 S 2 0 1 "" AK1 nsv823429 6 14488275 14489152 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424996,nssv1436649 M 31 0 2 "" AK2,NA18542 esv26483 6 14690081 14698991 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11189 S 451 1 0 "" NA15510 nsv519149 6 14725570 14726116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696626 S 2026 0 1 "" esv272965 6 14765339 14765522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580112,essv2579977 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv272124 6 14765347 14765443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496762,essv2501460,essv2504650,essv2499148,essv2509610,essv2501981,essv2497995 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA19093,NA19099,NA19114,NA19129,NA19239,NA19240 nsv512866 6 14800628 14802050 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625508 S 1 1 0 "" 1 esv1642493 6 14801087 14801087 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876391 S 2 1 0 "" HuRef esv1072406 6 14801099 14801099 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159725 S 2 1 0 "" HuRef esv1399094 6 14801110 14801110 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934209 S 2 1 0 "" HuRef esv29247 6 14847459 14848791 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20903 S 451 0 2 "" NA18907,NA19099 esv25074 6 14848851 14853716 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19565,esv17333 M 451 3 0 "" NA18511,NA18907,NA19099 nsv510016 6 14850281 14856281 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623996,nssv621278,nssv622107 M 4 0 3 "" NA10860,NA15510,NA18994 nsv511851 6 14851375 14853762 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624381 S 1 0 1 "" 1 esv2423184 6 14852529 14854112 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262892 S 1 0 1 "" NA18507 esv2337800 6 14853086 14853847 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692043 S 1 0 1 "" NA18507 nsv821239 6 14853211 14853706 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420574 S 1 0 1 "" NA10851 esv1010225 6 14853227 14853696 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586824 S 3 1 0 "" HuRef nsv823430 6 14853227 14853696 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422627 S 31 1 0 "" NA18552 esv4041 6 14853230 14853750 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26482 S 1 0 1 Single Asian sample YH "" YH esv6073 6 14853291 14853692 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28514 S 1 0 1 "" SJK esv25952 6 14947466 14949606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17616 S 451 0 1 "" NA12828 nsv883453 6 15034299 15109485 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560747 S 6533 1 0 "" MS24690 nsv883454 6 15117116 15189231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526955 S 6533 0 1 "" SP58008 nsv830593 6 15157615 15352169 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445259 S 95 0 1 "" nsv830594 6 15279137 15369275 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445260 S 95 0 1 JARID2 nsv819441 6 15281825 15287610 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419734 S 2 0 1 "" AK1 esv1011225 6 15296130 15306016 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565617 S 3 0 1 "" HuRef esv1132834 6 15296401 15298817 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199004 S 2 0 1 "" HuRef esv27933 6 15356295 15357019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13446 S 451 0 1 JARID2 NA07045 esv2034818 6 15387153 15387566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804961 S 1 0 1 JARID2 NA18507 nsv509120 6 15400817 15487671 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620846 S 4 1 0 JARID2 NA15510 nsv522265 6 15602156 15654192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695045 S 2026 0 1 DTNBP1,JARID2 esv2464602 6 15648805 15650237 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383169 S 1 0 1 DTNBP1 NA18507 nsv428136 6 15703619 15889220 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450608 S 62 1 0 DTNBP1 NA19189 esv2607475 6 15772784 15825065 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353411 S 1 1 0 "" NA18507 dgv1905e1 6 15776846 15833457 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13323,esv1135 M 271 0 0 "" NA18507 nsv433377 6 15794204 15821738 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463258 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18507 esv269951 6 15796896 15796981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516940,essv2514797,essv2514995,essv2514407,essv2513755 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12234,NA12812,NA12874 esv33801 6 15804872 15818499 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95448 S 51 0 1 "" 21847 esv2571155 6 15852033 15853454 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206007 S 1 0 1 "" NA18507 nsv518098 6 15872654 15879967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694200 S 2026 0 1 "" nsv5207 6 15967121 15999254 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3419 S 9 1 0 "" NA12878 nsv348406 6 15992687 15992846 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv366984 M 24 "" esv9213 6 16023834 16023892 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31654 S 1 1 0 "" SJK esv2653334 6 16091641 16093353 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285664 S 1 0 1 "" NA18507 nsv5208 6 16105407 16132464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv528 S 9 1 0 "" NA19240 nsv462642 6 16127094 16164005 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538749 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01336 nsv5209 6 16226103 16260009 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4892 S 9 1 0 MIR4639,MYLIP NA19129 nsv521185 6 16303287 16347758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697833 S 2026 0 1 GMPR esv32789 6 16328780 16330855 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100666,essv97883,essv95478,essv100107,essv93226 M 51 0 5 "" 21656,21837,21847,22086,22170 esv2167446 6 16374141 16374576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640398 S 1 0 1 GMPR NA18507 nsv521653 6 16383679 16400739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698271 S 2026 0 1 GMPR nsv5211 6 16431865 16463445 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4893 S 9 1 0 ATXN1 NA19129 nsv462643 6 16500138 16508069 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538750 S 1557 1 0 ATXN1 1782681236_A nsv5212 6 16584774 16616985 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10488 S 9 1 0 ATXN1 NA18956 esv22347 6 16687321 16687857 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13003 S 451 3 0 ATXN1 NA18907,NA19114,NA19240 dgv1906e1 6 16981250 17020517 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4725,esv24 M 271 0 0 "" NA18620 esv21992 6 16992973 16994044 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19373 S 451 23 0 "" NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19147,NA19240,NA19257 nsv820755 6 16992973 16994044 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420575 S 1 0 1 "" NA10851 nsv830595 6 17007348 17207711 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445261 S 95 1 0 "" esv272366 6 17058704 17059570 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580224,essv2579976,essv2580671,essv2579064,essv2579599 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1217371 6 17118766 17118766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846162 S 2 1 0 "" HuRef nsv349766 6 17118767 17118767 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368344 M 24 "" nsv510017 6 17185404 17191404 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623997,nssv618229 M 4 0 2 "" CHM,NA18994 nsv5213 6 17227410 17271785 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2572 S 9 0 1 FLJ23152 NA18555 esv29383 6 17241370 17253463 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12011 S 451 1 0 "" NA19257 esv26925 6 17283492 17284132 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10800 S 451 0 2 "" NA18505,NA18909 esv2467932 6 17357560 17358452 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215274 S 1 1 0 "" NA18507 esv28992 6 17375540 17379629 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16121 S 451 0 1 "" NA12414 dgv50n50 6 17484605 17489702 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511852,nsv511323 M 1 0 1 "" 1 esv28152 6 17484707 17489591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12002,esv17074 M 451 0 12 "" NA06985,NA11995,NA12004,NA12006,NA12156,NA12414,NA12776,NA18502,NA18517,NA18523,NA19099,NA19114 dgv1000n67 6 17485896 17489382 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823432,nsv823434,nsv823433 M 31 0 6 "" AK14,AK16,AK18,AK20,NA18564,NA18972 nsv350167 6 17490936 17490985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368745 M 24 "" nsv349497 6 17514624 17516869 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368075 M 24 CAP2 esv270064 6 17524346 17524673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558157,essv2576083,essv2540885,essv2526276,essv2570878,essv2568083,essv2545468,essv2531717,essv2521813,essv2576799,essv2535323,essv2554022,essv2547161,essv2558496,essv2577846,essv2553899,essv2520006,essv2555080,essv2537419,essv2528386,essv2520765,essv2569686,essv2528955,essv2563573,essv2553148,essv2533810,essv2572123,essv2537998,essv2554544 M 157 29 0 Samples from several populations that are part of the HapMap project. CAP2 NA07000,NA07346,NA10851,NA11830,NA11831,NA11918,NA11993,NA11995,NA12003,NA12006,NA12144,NA12154,NA12249,NA12287,NA12717,NA12750,NA12761,NA12763,NA12815,NA12872,NA12878,NA12891,NA18498,NA18520,NA18579,NA18603,NA18605,NA18944,NA18973 esv274666 6 17524346 17524673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582252,essv2582300,essv2583022,essv2584138,essv2584629,essv2583824 M 7 6 0 Samples from several populations that are part of the HapMap project. CAP2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv5214 6 17531492 17587753 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4894,nssv9683 M 9 0 2 CAP2 NA18507,NA19129 esv2486925 6 17545656 17550501 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236327 S 1 0 1 CAP2 NA18507 esv2337248 6 17546165 17550058 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546885 S 1 0 1 CAP2 NA18507 esv28379 6 17546281 17549658 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13970 S 451 0 3 CAP2 NA19114,NA19129,NA19225 esv1591451 6 17546308 17547066 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016229 S 2 0 1 CAP2 HuRef nsv823435 6 17546782 17549694 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428301 S 31 0 1 CAP2 AK10 nsv516012 6 17568155 17985203 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670663,nssv665717,nssv658310,nssv703532,nssv658078,nssv705642 M 2026 5 1 CAP2,FAM8A1,KIF13A,NUP153 esv2642821 6 17579614 17581271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306751 S 1 0 1 CAP2 NA18507 esv2026108 6 17580054 17580764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933398 S 1 0 1 CAP2 NA18507 esv4873 6 17580233 17580786 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27314 S 1 0 1 Single Asian sample YH CAP2 YH esv993176 6 17580249 17580561 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567583 S 3 0 1 CAP2 HuRef esv2519333 6 17580257 17580569 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264522 S 1 0 1 CAP2 NA18507 esv1751200 6 17580264 17580577 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122234 S 2 0 1 CAP2 HuRef esv8324 6 17580269 17580564 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30765 S 1 0 1 CAP2 SJK nsv883455 6 17581906 17709832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553687 S 6533 1 0 CAP2,FAM8A1 MS20239 nsv883456 6 17581906 17783225 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588091 S 6533 1 0 CAP2,FAM8A1,NUP153 IS38152 nsv883457 6 17643105 17755625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536855 S 6533 1 0 CAP2,FAM8A1,NUP153 MS12986 nsv883458 6 17651281 17724235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582812 S 6533 1 0 CAP2,FAM8A1,NUP153 IS36170 esv1338987 6 17695306 17695306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3731784 S 2 1 0 "" HuRef nsv830596 6 17706001 17876021 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445267,nssv1445268,nssv1445263,nssv1445266,nssv1445269,nssv1445265,nssv1445264 M 95 7 0 FAM8A1,KIF13A,NUP153 esv268526 6 17758840 17759167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546178,essv2535179,essv2553995,essv2565304 M 157 4 0 Samples from several populations that are part of the HapMap project. NUP153 NA11881,NA12249,NA12287,NA12812 nsv823436 6 17829727 17855615 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426697 S 31 1 0 "" AK6 esv22436 6 17835724 17836361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12274 S 451 0 1 "" NA19114 nsv830597 6 18061918 18231811 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445270 S 95 0 1 KIF13A,NHLRC1 nsv883459 6 18066077 18131665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518136 S 6533 0 1 KIF13A SP57469 esv23172 6 18095484 18096395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16367 S 451 0 2 KIF13A NA07045,NA18907 esv26658 6 18129136 18130181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15903 S 451 0 1 "" NA19240 nsv5215 6 18140324 18171896 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11120 S 9 1 0 "" NA15510 nsv5216 6 18144601 18189463 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8226 S 9 0 1 "" NA12156 nsv883460 6 18207573 18294526 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556836 S 6533 1 0 KDM1B,NHLRC1,TPMT MS22212 esv2513952 6 18214152 18221375 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332747 S 1 0 1 "" NA18507 esv2167236 6 18214741 18221048 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593011 S 1 0 1 "" NA18507 esv22117 6 18214830 18220881 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20759 S 451 0 1 "" NA18909 esv274178 6 18223640 18224977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578923,essv2579554 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271692 6 18361225 18361615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503257,essv2496617,essv2504142,essv2506082,essv2495574,essv2502459,essv2505455,essv2502694,essv2500710,essv2506625,essv2509589,essv2504352 M 157 12 0 Samples from several populations that are part of the HapMap project. DEK NA07347,NA11881,NA11894,NA18505,NA18523,NA18916,NA18948,NA18952,NA18965,NA18973,NA19108,NA19129 esv2541383 6 18408988 18410515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352502 S 1 0 1 "" NA18507 nsv823437 6 18434180 18435013 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437461 S 31 0 1 "" NA18949 nsv349085 6 18435678 18435754 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367663 M 24 "" esv2590096 6 18453941 18455035 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213998 S 1 1 0 "" NA18507 esv271652 6 18454342 18454680 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519175,essv2517115,essv2514122,essv2516601,essv2515531,essv2518185,essv2517802,essv2518368 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12043,NA12814,NA12815,NA12872,NA12878,NA19240 esv273996 6 18454342 18454680 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581386 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv511853 6 18509164 18511296 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624383 S 1 0 1 RNF144B 1 esv2467136 6 18509461 18511503 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267382 S 1 0 1 RNF144B NA18507 esv2049444 6 18509877 18511034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4779702 S 1 0 1 RNF144B NA18507 esv3181 6 18509996 18511029 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25622 S 1 0 1 Single Asian sample YH RNF144B YH esv999347 6 18510067 18510846 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577634 S 3 0 1 RNF144B HuRef nsv514344 6 18510068 18510624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627793 S 1414 0 1 RNF144B esv5916 6 18510081 18510870 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28357 S 1 0 1 RNF144B SJK esv21847 6 18510099 18510860 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16674 S 451 30 0 RNF144B NA06985,NA07037,NA07045,NA11894,NA11931,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19257 nsv820580 6 18510099 18510860 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420576 S 1 0 1 RNF144B NA10851 esv2612022 6 18520620 18522016 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262830 S 1 0 1 RNF144B NA18507 nsv819265 6 18574538 18574788 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419459 S 2 0 1 RNF144B AK1 esv272954 6 18578109 18578350 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581783,essv2582629,essv2583058 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv269917 6 18578109 18578447 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558148,essv2565867,essv2571821,essv2546374,essv2522783,essv2544085,essv2545647,essv2523413,essv2570451,essv2548358,essv2525528,essv2552287,essv2547186,essv2529380,essv2558571,essv2577882,essv2576209,essv2520199,essv2555024,essv2537373,essv2546875,essv2536834,essv2527287,essv2540674,essv2565182,essv2535624,essv2572261,essv2573898,essv2571957,essv2533117 M 157 30 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11829,NA11840,NA11881,NA11931,NA11992,NA12003,NA12004,NA12044,NA12045,NA12156,NA12489,NA12717,NA12749,NA12750,NA12761,NA12814,NA12815,NA12872,NA12878,NA12892,NA18517,NA18522,NA18552,NA18558,NA18608,NA18609,NA18951,NA18973 dgv6436n71 6 18607905 18681649 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883462,nsv883461 M 6533 0 2 MIR548A1 IS37293,MS20359 nsv522216 6 18623955 18630299 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694994 S 2026 1 0 "" nsv524331 6 18623955 18630299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700237 S 2026 0 1 "" esv270314 6 18734728 18735060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575973,essv2525904,essv2544041,essv2550552,essv2554307,essv2564488,essv2564285,essv2530540,essv2540027,essv2532155,essv2538992,essv2527186,essv2566930,essv2556298,essv2562469,essv2539496,essv2575623,essv2526383,essv2560668,essv2574806,essv2545100,essv2551375,essv2558139 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11830,NA11918,NA11992,NA12155,NA12287,NA12751,NA12828,NA12873,NA18489,NA18505,NA18519,NA18522,NA18853,NA18871,NA18909,NA18912,NA19099,NA19114,NA19116,NA19138,NA19172,NA19257 esv996671 6 18774988 18774988 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573078 S 3 1 0 "" HuRef esv1014493 6 18775011 18775011 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811911 S 2 1 0 "" HuRef esv268681 6 18778268 18778353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516469 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv830598 6 18779741 18954466 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445272,nssv1445271 M 95 0 2 "" nsv462646 6 18807121 19224418 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538751 S 1557 1 0 "" 1780862347_A nsv526639 6 18807121 19224418 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702961 S 2026 1 0 "" nsv525261 6 18809568 18825173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701360 S 2026 0 1 "" esv27151 6 18829376 18840975 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16782 S 451 1 0 "" NA19257 nsv462647 6 18950538 19002215 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538752 S 1557 0 1 "" NINDS_91 nsv883463 6 18953170 19022603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558750 S 6533 0 1 "" MS23531 esv1063967 6 18956216 18956216 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597896 S 2 1 0 "" HuRef esv1589393 6 18996357 18996357 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278101 S 2 1 0 "" HuRef esv1425885 6 18996783 18996861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865385 S 2 0 1 "" HuRef esv1290960 6 19007144 19007144 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963035 S 2 1 0 "" HuRef nsv462648 6 19022603 19087890 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538753 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01348 nsv7377 6 19042463 19070461 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9684 S 9 0 0 "" NA18507 esv991837 6 19051618 19051663 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577308 S 3 0 1 "" HuRef nsv462649 6 19083050 19110272 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538754 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 nsv470803 6 19083050 19110272 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544451 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 nsv821645 6 19091937 19126876 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421413 S 31 0 1 "" nsv5217 6 19141383 19161962 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2573,nssv6053 M 9 0 2 "" NA12156,NA18555 nsv436992 6 19146111 19166671 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466873 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv10802 6 19148813 19159465 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13982,nssv13210,nssv14238,nssv12941,nssv16403 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA12802,NA12872,NA18564,NA18972 nsv499596 6 19149165 19157403 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585972 S 9 0 1 "" esv23080 6 19149248 19157489 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12349,esv16168 M 451 0 12 "" NA07045,NA11993,NA11995,NA12004,NA12156,NA12414,NA12749,NA12776,NA12828,NA18861,NA19190,NA19257 dgv1001n67 6 19149437 19154071 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823438,nsv823440,nsv823439 M 31 0 13 "" AK12,AK2,AK4,AK6,NA18526,NA18564,NA18570,NA18592,NA18949,NA18968,NA18969,NA18972,NA18997 nsv514345 6 19149636 19152692 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627794 S 1414 0 1 "" esv2421549 6 19150160 19156771 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5092977,essv5032163,essv5152805,essv5061765,essv5097671,essv5088272,essv5131714,essv5070798,essv5062111,essv5147550,essv5067052,essv5135638,essv5067549,essv5111710,essv5096253,essv5029029,essv5048567,essv5021221,essv5014605,essv5077646,essv5082069,essv5099542,essv5065705,essv5117543,essv5101287,essv5038775,essv5074864,essv5063306,essv5018184,essv5156976,essv5140103,essv5009652,essv5135612,essv5028097,essv5128904,essv5092631,essv5100995,essv5069971,essv5062255,essv5043389,essv5145264,essv5072368,essv5036647,essv5083881,essv5031074,essv5068059,essv5058733,essv5140888,essv5123473,essv5031058,essv5140968,essv5141567,essv5067172,essv5067168,essv5155321,essv5025290,essv5004674,essv5083210,essv5019859,essv5134592,essv5160021,essv5026945,essv5002564,essv5100985,essv5023557,essv5054808,essv5051831,essv5007886,essv5092294,essv5069939,essv5022558,essv5070995,essv5032534,essv5011731,essv5148234,essv5067976,essv5143643,essv5113810,essv5117076,essv5008490,essv5090213,essv5126495,essv5068138,essv5086526,essv5092786,essv5076802,essv5010551,essv5093225,essv5132389,essv5147572,essv5159402,essv5088225,essv5033925,essv5127528,essv5036290,essv5157732,essv5097182,essv5161111,essv5115901,essv5122466,essv5111345,essv5146447,essv5127382,essv5050553,essv5006346,essv5068840,essv5133771,essv5026267,essv5004281,essv5132228,essv5118864,essv5154846,essv5013467,essv5053040,essv5116488,essv5034198,essv5045288,essv5130040,essv5157189,essv5083062,essv5062760,essv5066280,essv5107585,essv5025844,essv5141600,essv5085062,essv5066019,essv5036172,essv5108418,essv5018864,essv5077175,essv5122092,essv5017257,essv5149772,essv5093681,essv5097588,essv5088283,essv5052885,essv5141633,essv5004142,essv5096316,essv5100457,essv5022249,essv5087105,essv5150698,essv5146455,essv5083124,essv5040823,essv5149379,essv5023988,essv5142641,essv5113495,essv5045771,essv5090786,essv5007439,essv5008406,essv5093881,essv5028623,essv5139199,essv5055825,essv5105214,essv5059055,essv5101773,essv5004957,essv5122359,essv5096581,essv5018240,essv5081407,essv5116059,essv5037250,essv5132196,essv5147089,essv5123099,essv5072545,essv5013955,essv5131384,essv5046131,essv5059295,essv5139857,essv5081994,essv5020552,essv5140593,essv5030930,essv5011267,essv5072628,essv5068383,essv5024590,essv5142753,essv5043730,essv5035224,essv5028369,essv5067237,essv5084292,essv5111452,essv5026650,essv5116805,essv5068052,essv5081039,essv5141559,essv5094576,essv5049658,essv5108925,essv5024769,essv5029507,essv5066637,essv5046209,essv5012187,essv5030912,essv5157571,essv5034849,essv5102451,essv5020184,essv5019858,essv5056053,essv5124100,essv5151548,essv5098898,essv5004726,essv5028659,essv5082409,essv5074463,essv5034527,essv5074914,essv5037959,essv5079104,essv5003622,essv5017540,essv5091874,essv5071608,essv5030240,essv5117698,essv5026323,essv5040820,essv5039031,essv5070642 M 1184 0 235 "" NA06986,NA06993,NA06994,NA06997,NA07029,NA07045,NA10831,NA10838,NA10852,NA10854,NA10855,NA10859,NA10861,NA11832,NA11840,NA11881,NA11882,NA11918,NA11992,NA11993,NA11994,NA11995,NA12145,NA12156,NA12264,NA12275,NA12344,NA12347,NA12348,NA12546,NA12716,NA12739,NA12748,NA12749,NA12762,NA12766,NA12776,NA12802,NA12815,NA12818,NA12828,NA12830,NA12842,NA12864,NA12872,NA12891,NA17962,NA17965,NA17966,NA17970,NA17972,NA17974,NA17976,NA17980,NA17987,NA17990,NA17995,NA17998,NA18101,NA18102,NA18106,NA18107,NA18108,NA18109,NA18118,NA18120,NA18122,NA18134,NA18135,NA18139,NA18140,NA18141,NA18146,NA18148,NA18150,NA18152,NA18154,NA18156,NA18158,NA18159,NA18160,NA18166,NA18497,NA18499,NA18524,NA18526,NA18534,NA18543,NA18548,NA18555,NA18558,NA18561,NA18564,NA18570,NA18592,NA18603,NA18605,NA18609,NA18611,NA18613,NA18616,NA18621,NA18623,NA18633,NA18640,NA18643,NA18674,NA18682,NA18689,NA18694,NA18740,NA18745,NA18749,NA18861,NA18862,NA18863,NA18940,NA18945,NA18949,NA18953,NA18968,NA18969,NA18972,NA18976,NA18997,NA19009,NA19056,NA19059,NA19074,NA19075,NA19076,NA19085,NA19086,NA19087,NA19160,NA19161,NA19175,NA19189,NA19190,NA19191,NA19209,NA19210,NA19257,NA19258,NA19315,NA19467,NA19472,NA19651,NA19658,NA19669,NA19670,NA19671,NA19676,NA19684,NA19686,NA19703,NA19705,NA19714,NA19722,NA19724,NA19746,NA19749,NA19751,NA19794,NA19909,NA19983,NA20277,NA20279,NA20282,NA20284,NA20301,NA20302,NA20336,NA20343,NA20346,NA20347,NA20358,NA20505,NA20508,NA20518,NA20522,NA20525,NA20531,NA20539,NA20542,NA20544,NA20582,NA20586,NA20757,NA20765,NA20783,NA20790,NA20800,NA20802,NA20804,NA20811,NA20812,NA20815,NA20818,NA20846,NA20852,NA20862,NA20870,NA20875,NA20889,NA20895,NA20903,NA20904,NA20906,NA21089,NA21097,NA21099,NA21100,NA21103,NA21112,NA21115,NA21117,NA21119,NA21137,NA21311,NA21344,NA21355,NA21399,NA21405,NA21424,NA21448,NA21453,NA21455,NA21493,NA21575,NA21576,NA21596,NA21620,NA21683,NA21719 nsv437960 6 19151529 19155942 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468720,nssv468719,nssv468722,nssv468721 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10859,NA12802,NA12815,NA12872 nsv5218 6 19153169 19168489 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4895 S 9 1 0 "" NA19129 nsv517267 6 19154709 19156752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659206,nssv654267,nssv691272,nssv667924,nssv653315,nssv668188,nssv689772,nssv660418,nssv681174,nssv662283,nssv689803,nssv688112,nssv680562,nssv662645,nssv688643,nssv694000,nssv674757,nssv685058,nssv670742,nssv656867,nssv659059,nssv666725,nssv668568,nssv666906,nssv669073,nssv664415,nssv654166,nssv663052,nssv670825,nssv683325,nssv670257,nssv692103,nssv674105,nssv662059,nssv675953,nssv659255 M 2026 0 36 "" esv2469844 6 19244471 19245557 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291119 S 1 1 0 "" NA18507 esv271540 6 19245055 19245391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565678,essv2575956,essv2540759,essv2571582,essv2546164,essv2521448,essv2542258,essv2522952,essv2570991,essv2556798,essv2568287,essv2545439,essv2570745,essv2548316,essv2521861,essv2576760,essv2550631,essv2525472,essv2550373,essv2535211,essv2554203,essv2552085,essv2520594,essv2547143,essv2529356,essv2558692,essv2564386,essv2577969,essv2553851,essv2530710,essv2561822,essv2537348,essv2546991,essv2551690,essv2562781,essv2550235,essv2537092,essv2539018,essv2527102,essv2561577,essv2544673,essv2563082,essv2523886,essv2553081,essv2541276,essv2538370,essv2542943,essv2540635,essv2534939,essv2561236,essv2539579,essv2549281,essv2519896,essv2521957,essv2566084,essv2530989,essv2532702,essv2567880,essv2528863,essv2567471,essv2569935,essv2563674,essv2553249,essv2535562,essv2572449,essv2559257,essv2556450,essv2562401,essv2578375,essv2573255,essv2555215,essv2555574,essv2566432,essv2529929,essv2573830,essv2527578,essv2555923,essv2534446,essv2531436,essv2573488,essv2543211,essv2577055,essv2572004,essv2525705,essv2529422,essv2575114,essv2568560,essv2571490,essv2546026,essv2574492,essv2551489,essv2536229,essv2537922,essv2549021,essv2533316,essv2554681,essv2547664,essv2525134,essv2563171 M 157 99 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11919,NA11931,NA11993,NA11994,NA11995,NA12003,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12873,NA12874,NA12878,NA12892,NA18504,NA18507,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18871,NA18909,NA18940,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19093,NA19102,NA19147,NA19238,NA19239,NA19240,NA19257 esv274417 6 19245055 19245391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581703,essv2582546 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv1641117 6 19245088 19245088 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758104 S 2 1 0 "" HuRef nsv512867 6 19245237 19245625 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625509 S 1 1 0 "" 1 esv2464096 6 19262981 19264766 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164650 S 1 0 1 "" NA18507 esv2030646 6 19263426 19264143 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904156 S 1 0 1 "" NA18507 esv3884 6 19263542 19264075 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26325 S 1 0 1 Single Asian sample YH "" YH esv6645 6 19263579 19263952 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29086 S 1 0 1 "" SJK esv28369 6 19335285 19354139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13770 S 451 0 1 "" NA18909 nsv520164 6 19336917 19353277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680059,nssv661335,nssv680160,nssv690923 M 2026 0 4 "" esv268684 6 19344455 19344540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516652 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 esv2608813 6 19369998 19371620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311708 S 1 0 1 "" NA18507 esv267592 6 19454397 19454730 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521093,essv2542552,essv2577577,essv2564362,essv2537464,essv2546741,essv2561194,essv2549195,essv2569872,essv2572378,essv2559278,essv2566800,essv2542042,essv2578474,essv2555651,essv2538633,essv2548142,essv2548762 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11894,NA11919,NA12043,NA12751,NA12878,NA12892,NA18562,NA18564,NA18593,NA18609,NA18638,NA18853,NA18856,NA18940,NA18945,NA19108,NA19210 esv272532 6 19454405 19454736 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582017,essv2582895 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv2584781 6 19455010 19456548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350001 S 1 0 1 "" NA18507 esv1330982 6 19455772 19455865 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118679 S 2 0 1 "" HuRef esv2453868 6 19531243 19532641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261852 S 1 0 1 "" NA18507 esv2088391 6 19531392 19532013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811417 S 1 0 1 "" NA18507 esv3312 6 19531565 19531987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25753 S 1 0 1 Single Asian sample YH "" YH esv270390 6 19675569 19675921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496275,essv2498584,essv2505736 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18858,NA18861 nsv830599 6 19751572 19931470 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445274 S 95 1 0 "" esv987756 6 19790729 19796018 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564207 S 3 0 1 "" HuRef nsv511338 6 19792602 19794692 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625655 S 1 0 1 "" 1 esv2541930 6 19792952 19794909 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393905 S 1 0 1 "" NA18507 nsv511854 6 19793243 19795477 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624384 S 1 0 1 "" 1 esv2047018 6 19793373 19794666 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755331 S 1 0 1 "" NA18507 esv22762 6 19793546 19794532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20555 S 451 0 5 "" NA07037,NA12239,NA12776,NA18907,NA19129 esv1211139 6 19793556 19794485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685445 S 2 0 1 "" HuRef esv992327 6 19793644 19794512 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586616 S 3 0 1 "" HuRef nsv508395 6 19851410 19905480 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622542 S 4 0 1 "" NA18994 nsv516824 6 19856027 19869194 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671198,nssv689433 M 2026 0 2 "" nsv5219 6 19862959 19887682 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv529,nssv2574,nssv10489,nssv4896 M 9 0 4 "" NA18555,NA18956,NA19129,NA19240 nsv883464 6 19869194 19935884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553072 S 6533 0 1 "" MS19721 nsv436515 6 19871206 19879436 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466259 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv5220 6 19872054 19904866 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6054 S 9 1 0 "" NA12156 esv2581386 6 19872821 19880180 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356473 S 1 0 1 "" NA18507 esv3657 6 19873065 19879258 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26098 S 1 0 1 Single Asian sample YH "" YH nsv499226 6 19873085 19879183 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585973 S 9 0 1 "" nsv462653 6 19884638 19920423 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538755 S 1557 0 1 "" NINDS_125 nsv883465 6 19914238 19948471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539530 S 6533 0 1 ID4 MS14359 nsv823441 6 19922809 19929198 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440377 S 31 0 1 "" NA18564 nsv521746 6 19924156 19926686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694511 S 2026 0 1 "" nsv441986 6 19924839 19927883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv823443 6 19930030 19932530 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429833 S 31 0 1 "" AK14 esv23665 6 19945768 19947751 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20878 S 451 0 1 ID4 NA07045 nsv819869 6 19947325 19947981 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419042 S 2 1 0 ID4 AK1 nsv349813 6 20013541 20013706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368391 M 24 "" esv1337473 6 20047996 20048095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903328 S 2 0 1 "" HuRef esv1351751 6 20060985 20061117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621973 S 2 0 1 "" HuRef nsv5222 6 20128926 20156612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv530 S 9 1 0 "" NA19240 esv2323755 6 20132111 20132510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972531 S 1 0 1 "" NA18507 esv7619 6 20132332 20132409 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30060 S 1 1 0 "" SJK esv1010968 6 20220013 20220013 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581805 S 3 1 0 MBOAT1 HuRef esv1703699 6 20220044 20220044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638186 S 2 1 0 MBOAT1 HuRef esv272083 6 20277073 20277411 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517437,essv2514401,essv2513846 M 157 3 0 Samples from several populations that are part of the HapMap project. MBOAT1 NA11918,NA12874,NA19143 nsv350077 6 20301234 20301814 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368655 M 24 MBOAT1 nsv883466 6 20339251 20373944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511360 S 6533 0 1 "" SP55021 esv269341 6 20350922 20351007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518540 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv883467 6 20570117 20598705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576839 S 6533 0 1 E2F3 IS34264 nsv883468 6 20581052 20625109 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572208 S 6533 0 1 E2F3 IS32891 esv2533735 6 20872972 20874475 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248958 S 1 0 1 CDKAL1 NA18507 esv2356880 6 20873151 20873864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4606258 S 1 0 1 CDKAL1 NA18507 esv5216 6 20873288 20873743 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27657 S 1 0 1 Single Asian sample YH CDKAL1 YH esv9437 6 20873355 20873676 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31878 S 1 0 1 CDKAL1 SJK nsv348939 6 20873358 20873677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367517 M 24 CDKAL1 esv2034903 6 20972241 20972674 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536952 S 1 0 1 CDKAL1 NA18507 esv1117045 6 20995898 20995898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024859 S 2 1 0 CDKAL1 HuRef nsv883469 6 21030707 21089414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532249 S 6533 0 1 CDKAL1 MS10737 nsv527696 6 21044393 21079964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704174 S 2026 0 1 CDKAL1 nsv510018 6 21153637 21159637 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622108,nssv623998 M 4 0 2 CDKAL1 NA10860,NA18994 nsv519141 6 21192409 21194026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696619 S 2026 0 1 CDKAL1 nsv524793 6 21216093 21216170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700785 S 2026 0 1 CDKAL1 nsv528152 6 21228407 21228748 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704700 S 2026 1 0 CDKAL1 nsv524280 6 21228748 21229134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700179 S 2026 0 1 CDKAL1 nsv830600 6 21241107 21420334 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445275 S 95 0 1 CDKAL1 nsv521200 6 21268426 21284103 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697841 S 2026 0 1 CDKAL1 esv2532671 6 21285679 21287173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295144 S 1 0 1 CDKAL1 NA18507 dgv6437n71 6 21313367 21338986 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883472,nsv883471,nsv883470 M 6533 0 12 CDKAL1 MS13212,MS13219,MS15030,MS16357,MS17906,MS19652,SP50540,SP53036,SP54083,SP54196,SP54769,SP58008 nsv883473 6 21394813 21455389 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592997 S 6533 1 0 "" IS39331 nsv462654 6 21404382 21430762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538756 S 1557 0 1 "" 1780854326_A nsv883474 6 21420946 21445003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565728 S 6533 0 1 "" IS30515 nsv830601 6 21429841 21617777 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445276 S 95 0 1 "" esv1397825 6 21564657 21564657 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240061 S 2 1 0 "" HuRef esv1691693 6 21564673 21564673 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620584 S 2 1 0 "" HuRef nsv441988 6 21609666 21611713 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1628410 6 21659798 21660155 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355670 S 2 0 1 "" HuRef nsv519363 6 21710531 21766860 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660480,nssv661477,nssv686342,nssv680309,nssv686028,nssv672668,nssv655654,nssv687783,nssv679132,nssv691826 M 2026 0 10 "" nsv516009 6 21836296 21848861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665698,nssv667037 M 2026 0 2 LINC00340 nsv348739 6 21875599 21879015 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367317 M 24 LINC00340 nsv883475 6 21913693 21927195 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523073 S 6533 0 1 LINC00340 SP53603 esv25369 6 21933480 21942167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18071 S 451 0 1 LINC00340 NA12239 nsv818402 6 21935083 21939271 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418372 S 112 0 1 LINC00340 NA12239 nsv516909 6 21935083 21940525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690292,nssv657599,nssv658180,nssv654874,nssv657823,nssv657512 M 2026 0 6 LINC00340 nsv511855 6 21958585 21961364 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624385 S 1 0 1 LINC00340 1 nsv525875 6 22009637 22017731 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702075 S 2026 0 1 LINC00340 nsv830602 6 22081828 22273386 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445277 S 95 1 0 LINC00340,LOC729177 esv24725 6 22088558 22090934 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16542 S 451 0 1 LINC00340 NA19108 esv268279 6 22092263 22092348 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517400 S 157 1 0 Samples from several populations that are part of the HapMap project. LINC00340 NA11918 nsv437478 6 22095406 22126973 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467359 S 60 0 1 Samples from several populations that are part of the HapMap project. LINC00340 NA19139 nsv349514 6 22099392 22102631 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368092 M 24 LINC00340 nsv823444 6 22117744 22118868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436650 S 31 0 1 LINC00340 NA18542 dgv374n21 6 22144846 22152995 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523982,nsv520732 M 2026 0 2 LINC00340 nsv348606 6 22155222 22155534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367184 M 24 LINC00340 esv2621401 6 22158418 22163101 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347061 S 1 0 1 LINC00340 NA18507 nsv510019 6 22158549 22164549 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621279 S 4 0 1 LINC00340 NA15510 nsv823445 6 22158952 22160767 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428302 S 31 0 1 LINC00340 AK10 dgv1002n67 6 22158952 22162332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823447,nsv823446,nsv823448,nsv823449 M 31 0 26 LINC00340 AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv819249 6 22158982 22162452 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419549 S 2 0 1 LINC00340 AK1 esv27155 6 22159124 22162663 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16665,esv12374 M 451 0 27 LINC00340 NA07037,NA11894,NA12004,NA12006,NA12044,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv349883 6 22160749 22161706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368461 M 24 LINC00340 nsv823450 6 22160767 22161680 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428303,nssv1432886 M 31 0 2 LINC00340 AK10,NA18592 esv270486 6 22190294 22190379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513795 S 157 1 0 Samples from several populations that are part of the HapMap project. LINC00340 NA19143 esv267950 6 22198047 22198426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493642,essv2498404,essv2493989,essv2498984,essv2497018,essv2499677,essv2512061,essv2498023 M 157 8 0 Samples from several populations that are part of the HapMap project. LINC00340 NA18517,NA18858,NA18871,NA19114,NA19190,NA19225,NA19238,NA19240 esv273054 6 22198111 22198451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582068,essv2583205,essv2584016,essv2584862,essv2583481 M 7 5 0 Samples from several populations that are part of the HapMap project. LINC00340 NA12878,NA12892,NA19238,NA19239,NA19240 nsv5223 6 22259893 22301363 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9685,nssv531,nssv4897 M 9 0 3 LINC00340 NA18507,NA19129,NA19240 nsv5224 6 22271131 22306008 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3420 S 9 1 0 LINC00340 NA12878 nsv499608 6 22275165 22283919 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585974 S 9 0 1 LINC00340 esv2218122 6 22309212 22309634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660078 S 1 0 1 "" NA18507 esv2567579 6 22334652 22336269 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271902 S 1 0 1 "" NA18507 esv993056 6 22335212 22335910 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564655 S 3 0 1 "" HuRef esv2242579 6 22335263 22335938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4778329 S 1 0 1 "" NA18507 esv3425 6 22335425 22335925 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25866 S 1 0 1 Single Asian sample YH "" YH esv7226 6 22335450 22335740 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29667 S 1 0 1 "" SJK nsv348766 6 22335452 22335733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367344 M 24 "" esv2473154 6 22335454 22335735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252721 S 1 0 1 "" NA18507 esv1009991 6 22335457 22335738 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585079 S 3 0 1 "" HuRef esv1616479 6 22335463 22335745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050871 S 2 0 1 "" HuRef nsv830604 6 22343537 22503002 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445278 S 95 0 1 PRL nsv349275 6 22609786 22609884 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367853 M 24 "" nsv830605 6 22614942 22780273 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445279 S 95 1 0 HDGFL1 esv1058917 6 22728315 22728315 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835047 S 2 1 0 "" HuRef nsv820078 6 22753212 22756182 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419496 S 2 0 1 "" AK1 esv4647 6 22890532 22891082 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27088 S 1 0 1 Single Asian sample YH "" YH esv9422 6 22890640 22890969 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31863 S 1 0 1 "" SJK nsv349694 6 22890648 22890971 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368272 M 24 "" nsv517158 6 22894992 22897992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653892,nssv669583,nssv684427 M 2026 0 3 "" dgv6438n71 6 22935562 22991151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883477,nsv883476 M 6533 0 2 "" IS33811,IS41292 nsv462655 6 22946963 22974171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538757 S 1557 0 1 "" NINDS_127 nsv349198 6 23004607 23004799 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367776 M 24 "" esv2625032 6 23037810 23039369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291599 S 1 0 1 "" NA18507 esv2016940 6 23038286 23038843 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830942 S 1 0 1 "" NA18507 esv1401745 6 23038562 23038760 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930394 S 2 0 1 "" HuRef nsv830606 6 23071105 23292972 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445280 S 95 1 0 "" nsv523464 6 23127204 23133804 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699222 S 2026 0 1 "" nsv818403 6 23142869 23147814 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417647 S 112 0 1 "" NA18992 nsv515600 6 23268267 23271046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658901,nssv680378,nssv669761,nssv686115,nssv674421,nssv689295,nssv664047 M 2026 0 7 "" esv25903 6 23268749 23271735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10154 S 451 0 1 "" NA18517 nsv5225 6 23351451 23380919 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11121 S 9 1 0 "" NA15510 esv1652198 6 23399508 23399592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831228 S 2 0 1 "" HuRef esv1784505 6 23399973 23400252 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596804 S 2 0 1 "" HuRef esv2418156 6 23403561 23403997 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766754 S 1 0 1 "" NA18507 esv2521238 6 23407700 23409273 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326589 S 1 0 1 "" NA18507 esv2362976 6 23408165 23408873 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777947 S 1 0 1 "" NA18507 esv3456 6 23408292 23408745 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25897 S 1 0 1 Single Asian sample YH "" YH dgv222n6 6 23408342 23408677 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv348702,nsv349370 M 24 "" esv6831 6 23408351 23408662 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29272 S 1 0 1 "" SJK esv1783906 6 23408355 23408677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087557 S 2 0 1 "" HuRef nsv830607 6 23410304 23554476 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445281 S 95 1 0 "" nsv823451 6 23459855 23460446 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423429 S 31 1 0 "" NA18999 nsv823452 6 23461803 23473596 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430609 S 31 0 1 "" AK16 esv3771 6 23502022 23502260 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26212 S 1 0 1 Single Asian sample YH "" YH esv1475151 6 23502257 23502257 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167259 S 2 1 0 "" HuRef nsv5226 6 23531645 23565334 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv532 S 9 1 0 "" NA19240 esv26373 6 23542424 23542987 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9983 S 451 0 1 "" NA06985 esv21586 6 23568329 23573370 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15154 S 451 0 1 "" NA19240 esv2422291 6 23574059 23708438 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161272 S 181 0 1 "" ND03123 nsv830608 6 23666634 23752384 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445282,nssv1445283,nssv1445288,nssv1445285,nssv1445287,nssv1445286 M 95 1 5 "" nsv883478 6 23723378 23767444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600669 S 6533 0 1 "" IS41909 esv2564362 6 23728028 23728609 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368319 S 1 1 0 "" NA18507 nsv462656 6 23737260 23829011 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538758 S 1557 0 1 "" NINDS_136 esv2543536 6 23793652 23795159 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226263 S 1 0 1 "" NA18507 esv2205125 6 23793807 23794479 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524728 S 1 0 1 "" NA18507 esv29906 6 23819527 23854465 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14730,esv17529 M 451 33 1 "" NA06985,NA07037,NA11894,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv4820 6 23851202 23853998 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27261 S 1 0 1 Single Asian sample YH "" YH nsv821176 6 23851257 23854039 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420577 S 1 0 1 "" NA10851 nsv514346 6 23851280 23853692 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627795 S 1414 0 1 "" nsv527726 6 23870370 23883574 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704207 S 2026 0 1 "" nsv883479 6 23912200 24198476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589905 S 6533 0 1 "" IS38430 nsv519462 6 23952741 23959884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694330 S 2026 0 1 "" esv33895 6 23957389 23957524 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97150 S 51 1 0 "" 22075 nsv524433 6 23966911 24086586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700360 S 2026 0 1 "" esv24616 6 23969943 23974934 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12062 S 451 1 0 "" NA19257 nsv462657 6 23987919 24004566 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538759 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01157 nsv470804 6 23998856 24054846 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544452 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00576 esv33446 6 23999290 24024790 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100826 S 51 0 1 "" 21656 nsv462658 6 24013218 24037216 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538760 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01300 nsv462659 6 24026157 24053250 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538761 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00576 nsv511856 6 24055747 24058346 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624386 S 1 0 1 "" 1 esv2617375 6 24056259 24058219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200792 S 1 0 1 "" NA18507 esv2162419 6 24056526 24057162 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806026 S 1 0 1 "" NA18507 esv1037928 6 24056728 24056969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995454 S 2 0 1 "" HuRef esv1237552 6 24057305 24057671 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683013 S 2 0 1 "" HuRef esv2495351 6 24085815 24086891 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228407 S 1 1 0 "" NA18507 esv268311 6 24086300 24086642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558036,essv2571794,essv2521421,essv2525863,essv2542454,essv2522879,essv2544191,essv2570900,essv2556750,essv2568203,essv2545521,essv2523429,essv2531700,essv2577421,essv2570387,essv2548182,essv2521707,essv2576601,essv2550666,essv2550503,essv2535368,essv2554335,essv2544325,essv2552122,essv2520675,essv2547566,essv2529389,essv2558339,essv2564342,essv2577946,essv2559636,essv2565220,essv2520267,essv2564246,essv2555126,essv2562132,essv2537227,essv2528411,essv2546632,essv2539933,essv2520938,essv2557349,essv2556922,essv2552381,essv2532321,essv2569622,essv2578583,essv2550132,essv2558827,essv2537035,essv2539151,essv2527274,essv2561313,essv2544978,essv2562831,essv2523664,essv2541174,essv2542939,essv2540383,essv2524731,essv2534915,essv2560969,essv2549352,essv2560036,essv2522224,essv2566012,essv2528790,essv2567591,essv2541486,essv2563565,essv2553255,essv2535503,essv2572389,essv2566944,essv2542105,essv2551035,essv2568946,essv2543472,essv2556413,essv2528137,essv2562456,essv2539313,essv2533950,essv2578181,essv2573187,essv2555581,essv2567137,essv2530145,essv2527501,essv2534318,essv2571987,essv2526908,essv2529463,essv2575591,essv2575241,essv2538839,essv2526343,essv2560691,essv2524254,essv2560858,essv2574791,essv2572769,essv2568687,essv2545230,essv2560426,essv2549838,essv2571362,essv2545913,essv2574172,essv2551417,essv2536347,essv2537761,essv2533194,essv2554478,essv2547836,essv2525029,essv2563155 M 157 117 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11840,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18561,NA18562,NA18564,NA18570,NA18571,NA18572,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18945,NA18947,NA18949,NA18952,NA18959,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272306 6 24086302 24086642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581676,essv2583177 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv1464068 6 24086336 24086336 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815361 S 2 1 0 "" HuRef nsv462660 6 24160505 24188349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538762 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01341 nsv512868 6 24161395 24162789 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625510 S 1 1 0 "" 1 esv2601903 6 24161879 24162606 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381462 S 1 1 0 "" NA18507 esv1513174 6 24164813 24164813 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759414 S 2 1 0 "" HuRef esv2528950 6 24182104 24183508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312383 S 1 0 1 "" NA18507 esv1324202 6 24329106 24329106 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895967 S 2 1 0 DCDC2 HuRef esv2456318 6 24346142 24346427 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192668 S 1 1 0 DCDC2 NA18507 nsv512869 6 24346266 24346429 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625512 S 1 1 0 DCDC2 1 nsv511339 6 24431837 24438219 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625666 S 1 0 1 DCDC2 1 nsv511857 6 24433033 24436385 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624387 S 1 0 1 DCDC2 1 dgv1003n67 6 24433241 24436027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823457,nsv823455,nsv823454,nsv823456 M 31 0 17 DCDC2 AK12,AK14,AK16,AK18,AK2,AK20,AK6,NA18526,NA18547,NA18552,NA18566,NA18570,NA18592,NA18942,NA18951,NA18968,NA18973 esv23337 6 24433310 24435604 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13772 S 451 0 4 DCDC2 NA11894,NA12006,NA12239,NA12828 esv9426 6 24433339 24435915 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31867 S 1 0 1 DCDC2 SJK esv32656 6 24433549 24435493 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95135,essv97381,essv98981,essv92814,essv93736,essv96613,essv95001,essv97682,essv100610 M 51 0 9 DCDC2 21721,21879,21938,21944,21972,22011,22231,22278,22298 esv33852 6 24439688 24442459 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99918 S 51 0 1 DCDC2 22086 esv33412 6 24444782 24444946 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101583 S 51 0 1 DCDC2 21603 esv269112 6 24447240 24453094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516479 S 157 1 0 Samples from several populations that are part of the HapMap project. DCDC2 NA12814 nsv820266 6 24553856 24555223 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419246 S 2 1 0 GPLD1 AK1 esv2229610 6 24556348 24556764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650530 S 1 0 1 GPLD1 NA18507 nsv519552 6 24559235 24632683 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696916 S 2026 1 0 ALDH5A1,GPLD1 nsv515988 6 24562658 24571440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665598,nssv657851,nssv660217,nssv696331 M 2026 0 4 GPLD1 nsv525943 6 24584673 24587824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702149 S 2026 0 1 GPLD1 nsv883480 6 24589278 24615498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546590 S 6533 0 1 ALDH5A1,GPLD1 MS17208 esv34020 6 24589278 24714015 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ALDH5A1,GPLD1,KIAA0319 esv2648573 6 24632820 24634237 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176780 S 1 0 1 ALDH5A1 NA18507 esv2562118 6 24756477 24757418 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229163 S 1 1 0 "" NA18507 nsv883481 6 24760226 24767050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517745 S 6533 0 1 TDP2 SP57367 nsv512870 6 24791850 24792535 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625513 S 1 1 0 ACOT13 1 esv2590495 6 24791917 24792419 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391470 S 1 1 0 ACOT13 NA18507 nsv515732 6 24813814 24817809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679447,nssv664618 M 2026 0 2 C6orf62 nsv830609 6 24820065 25004626 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445289 S 95 1 0 C6orf62,FAM65B,GMNN nsv349398 6 24843174 24844658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367976 M 24 "" nsv5227 6 24882128 24931991 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9686,nssv6055,nssv2575,nssv10490,nssv3421 M 9 0 5 FAM65B,GMNN NA12156,NA12878,NA18507,NA18555,NA18956 nsv508396 6 24887627 24954288 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618785,nssv622543,nssv619971 M 4 0 3 FAM65B,GMNN NA10860,NA15510,NA18994 esv2592028 6 24918870 24926537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340480 S 1 0 1 FAM65B NA18507 esv998494 6 24919374 24926031 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563503 S 3 0 1 FAM65B HuRef nsv511858 6 24919732 24925949 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624388 S 1 0 1 FAM65B 1 nsv435839 6 24919745 24926899 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466260 S 2 0 1 FAM65B NA15510 esv5139 6 24919824 24925988 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27580 S 1 0 1 Single Asian sample YH FAM65B YH nsv499497 6 24919854 24925942 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585975 S 9 0 1 FAM65B esv1071217 6 24919866 24925941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656912 S 2 0 1 FAM65B HuRef esv6116 6 24919871 24925930 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28557 S 1 0 1 FAM65B SJK nsv819104 6 24951212 24951656 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418954 S 2 1 0 FAM65B AK1 esv2556930 6 24986462 24987907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271194 S 1 0 1 FAM65B NA18507 esv2171182 6 24986925 24987550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544651 S 1 0 1 FAM65B NA18507 nsv883482 6 25034709 25143899 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599297 S 6533 1 0 "" IS41562 esv275111 6 25054650 25059178 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586135,essv2586113 M 1250 1 1 "" nsv830610 6 25059720 25232218 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445290 S 95 0 1 CMAHP esv1004432 6 25062064 25065406 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563830 S 3 0 1 "" HuRef nsv510020 6 25145000 25151000 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622109,nssv623999,nssv618230 M 4 0 3 "" CHM,NA10860,NA18994 nsv830611 6 25147353 25307091 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445291,nssv1445292,nssv1445293 M 95 0 3 CMAHP esv28476 6 25152994 25161333 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10579 S 451 1 0 "" NA19257 nsv509121 6 25166741 25180038 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620847 S 4 1 0 "" NA15510 nsv5228 6 25177110 25178723 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv533 S 9 1 0 "" NA19240 esv2456849 6 25178417 25179059 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378507 S 1 1 0 "" NA18507 nsv470806 6 25190241 25264176 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544453 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CMAHP HGDP00910 nsv462662 6 25192697 25273465 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538764 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CMAHP HGDP00910 nsv349859 6 25199965 25199965 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368437 M 24 CMAHP esv273046 6 25232757 25233025 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578937,essv2579667 M 7 2 0 Samples from several populations that are part of the HapMap project. CMAHP NA19239,NA19240 esv270043 6 25232757 25233071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496757,essv2510580,essv2503017,essv2509861,essv2496364,essv2496230,essv2494650,essv2509083,essv2505848,essv2507106,essv2507029,essv2506697,essv2497720,essv2496992,essv2499646,essv2501846,essv2497985,essv2504353 M 157 18 0 Samples from several populations that are part of the HapMap project. CMAHP NA07347,NA18498,NA18501,NA18507,NA18508,NA18510,NA18511,NA18519,NA18522,NA18861,NA18870,NA19102,NA19108,NA19147,NA19190,NA19225,NA19239,NA19240 nsv462663 6 25264176 25342863 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538765 S 1557 0 1 "" 1780862224_A nsv883483 6 25308821 25380414 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555951 S 6533 1 0 "" MS21721 esv1227601 6 25314864 25314864 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949247 S 2 1 0 "" HuRef nsv883484 6 25345267 25411079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563499 S 6533 1 0 LRRC16A MS26061 dgv6439n71 6 25367116 25545965 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883485,nsv883486 M 6533 3 0 LRRC16A SP52299,SP52332,SP55110 nsv883487 6 25388098 25616847 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504975 S 6533 1 0 LRRC16A SP52925 esv24399 6 25420415 25423617 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16338 S 451 0 1 LRRC16A NA19108 esv8827 6 25432800 25432898 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31268 S 1 1 0 LRRC16A SJK nsv830612 6 25450387 25617737 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445294 S 95 1 0 LRRC16A esv275059 6 25454964 25459242 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585178 S 1250 0 1 LRRC16A esv271205 6 25488174 25488531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506767,essv2508739,essv2497310,essv2494604,essv2506367,essv2511280,essv2500648,essv2500125,essv2507557,essv2505172 M 157 10 0 Samples from several populations that are part of the HapMap project. LRRC16A NA11918,NA18532,NA18545,NA18550,NA18566,NA18570,NA18571,NA18573,NA18638,NA18853 esv26089 6 25545825 25546321 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18957 S 451 1 0 LRRC16A NA19240 nsv819937 6 25558699 25559120 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418943 S 2 0 1 LRRC16A AK1 esv27936 6 25558824 25560318 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10289 S 451 0 1 LRRC16A NA12776 esv27920 6 25614072 25627508 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10468 S 451 4 0 LRRC16A NA12239,NA12749,NA18907,NA19108 nsv823458 6 25615413 25615980 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430611 S 31 1 0 LRRC16A AK16 esv1982720 6 25637652 25638202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658580 S 1 0 1 LRRC16A NA18507 nsv349286 6 25637865 25638005 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367864 M 24 LRRC16A nsv883488 6 25700468 25839670 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504976 S 6533 1 0 HIST1H2AA,HIST1H2BA,LRRC16A,SCGN SP52925 esv7876 6 25755667 25755767 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30317 S 1 0 0 "" SJK nsv526061 6 25816693 25833460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702299 S 2026 0 1 "" nsv883489 6 25897040 25929749 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519769 S 6533 1 0 SLC17A1 SP50544 nsv823459 6 26001885 26013542 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438169 S 31 0 1 "" NA18951 nsv5229 6 26020130 26064537 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2576 S 9 0 1 SLC17A2 NA18555 nsv428137 6 26095392 26459899 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450614 S 62 0 1 HFE,HIST1H1A,HIST1H1C,HIST1H1D,HIST1H1E,HIST1H1T,HIST1H2AB,HIST1H2AC,HIST1H2AD,HIST1H2AE,HIST1H2BB,HIST1H2BC,HIST1H2BD,HIST1H2BE,HIST1H2BF,HIST1H2BG,HIST1H2BH,HIST1H2BI,HIST1H3A,HIST1H3B,HIST1H3C,HIST1H3D,HIST1H3E,HIST1H3F,HIST1H3G,HIST1H4A,HIST1H4B,HIST1H4C,HIST1H4D,HIST1H4E,HIST1H4F,HIST1H4G,HIST1H4H HGDP00449 esv5019 6 26112326 26112560 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27460 S 1 0 1 Single Asian sample YH "" YH nsv509122 6 26115785 26172322 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623471 S 4 1 0 HIST1H1A,HIST1H1C,HIST1H2AB,HIST1H2BB,HIST1H3A,HIST1H3B,HIST1H3C,HIST1H4A,HIST1H4B NA18994 nsv512871 6 26151207 26151290 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625514 S 1 1 0 "" 1 dgv375n21 6 26256290 26319347 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518431,nsv526456 M 2026 0 2 HIST1H1E,HIST1H2AD,HIST1H2BD,HIST1H2BE,HIST1H2BF,HIST1H3D,HIST1H4D,HIST1H4E nsv883490 6 26280198 26339587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576173 S 6533 0 1 HIST1H2AD,HIST1H2AE,HIST1H2BE,HIST1H2BF,HIST1H2BG,HIST1H3D,HIST1H3E,HIST1H4D,HIST1H4E IS33894 esv269683 6 26295900 26295985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518505 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv33291 6 26378693 26378845 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96439 S 51 1 0 "" 22261 nsv525347 6 26421327 26430964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701466 S 2026 0 1 "" nsv5230 6 26429572 26469510 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv534,nssv9888 M 9 0 2 "" NA18507,NA19240 esv2432404 6 26451205 26460237 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214499 S 1 0 1 "" NA18507 esv2398249 6 26451611 26459740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721457 S 1 0 1 "" NA18507 esv23208 6 26451828 26459559 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12557 S 451 0 5 "" NA18508,NA18523,NA18916,NA19225,NA19240 nsv514347 6 26453220 26459182 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627796 S 1414 0 1 "" nsv883491 6 26475668 26518779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553516 S 6533 0 1 BTN2A2,BTN3A1,BTN3A2 MS20117 dgv6440n71 6 26475668 26551832 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883492,nsv883497,nsv883494,nsv883498,nsv883493,nsv883495 M 6533 0 8 BTN2A2,BTN2A3P,BTN3A1,BTN3A2,BTN3A3 SP51021,SP53060,SP54467,SP54517,SP55763,SP56213,SP56842,SP57662 nsv883496 6 26477528 26521067 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594004 S 6533 1 0 BTN2A2,BTN3A1,BTN3A2 IS39660 nsv527328 6 26480765 26487516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703753 S 2026 0 1 BTN3A2 nsv883499 6 26485570 26562433 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577529 S 6533 1 0 BTN2A2,BTN2A3P,BTN3A1,BTN3A2,BTN3A3 IS34482 nsv528172 6 26538960 26571639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704721 S 2026 0 1 BTN2A1,BTN3A3 nsv349568 6 26622407 26622407 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368146 M 24 "" nsv830613 6 26745083 26897961 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445297 S 95 1 0 ZNF322 nsv471635 6 26751772 26923946 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550252,nssv550249,nssv550247,nssv550246,nssv550250,nssv550248,nssv550251 M 48 7 0 ZNF322 NA10470,NA10492,NA15732,NA17015,NA17016,NA17017,NA17020 nsv5231 6 26751871 26868462 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6056,nssv9889,nssv4898,nssv535 M 9 0 4 ZNF322 NA12156,NA18507,NA19129,NA19240 nsv349022 6 26757910 26758219 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367600 M 24 ZNF322 nsv823460 6 26764635 26766611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439694,nssv1428304,nssv1424239 M 31 0 3 ZNF322 AK10,NA18537,NA18582 nsv10803 6 26764639 26767186 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14025,nssv12889 M 31 0 2 Samples from several populations that are part of the HapMap project. ZNF322 NA18537,NA18572 nsv499122 6 26779303 26906430 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585557 S 9 0 0 "" nsv7378 6 26781648 26946836 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9687,nssv9689,nssv9688,nssv537,nssv6057,nssv536,nssv10492,nssv6058,nssv3423,nssv9423,nssv538,nssv11122,nssv2578,nssv9424,nssv10491,nssv4899,nssv3422,nssv2579,nssv2577 M 9 0 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv350143 6 26785006 26794104 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368721 M 24 "" nsv499692 6 26785194 26794328 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585976 S 9 0 1 "" esv22486 6 26785348 26791850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11541 S 451 0 2 "" NA18511,NA19108 dgv1907e1 6 26801198 27203693 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv552,essv22224 M 271 0 0 GUSBP2,LINC00240,LOC100270746 NA12044 essv17380 6 26806459 27004868 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GUSBP2 NA18855 dgv1004n67 6 26810816 26868242 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823461,nsv823462 M 31 0 6 "" AK20,NA18552,NA18949,NA18951,NA18968,NA18997 esv33111 6 26811045 27054910 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101606,essv96843,essv95109,essv94773,essv97884,essv95645,essv95457,essv95289,essv97307,essv101763,essv94531,essv92839,essv92822,essv93639,essv96661,essv98574,essv99984,essv93291,essv99748,essv92523,essv96471,essv99166,essv97653,essv100462,essv100303,essv99382,essv94208 M 51 0 27 GUSBP2,LINC00240 21603,21659,21721,21791,21837,21841,21847,21872,21879,21909,21932,21939,21944,21972,22011,22085,22086,22170,22217,22233,22261,22275,22278,22298,22300,22335,22394 nsv883500 6 26814523 27030885 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592618 S 6533 1 0 GUSBP2 IS39243 esv3122 6 26816274 26886832 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25563 S 1 0 0 Single Asian sample YH "" YH nsv283 6 26816389 26911451 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv283 S 1 0 0 "" NA15510 dgv6441n71 6 26819967 26900980 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883502,nsv883501 M 6533 2 0 "" SP50776,SP52470 nsv10804 6 26826983 26891099 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16244,nssv16463,nssv12971,nssv15372,nssv15951,nssv13796,nssv13697,nssv15793,nssv13826,nssv16530,nssv14586,nssv15061,nssv13240,nssv13944,nssv14506,nssv16214,nssv14218 M 31 8 7 Samples from several populations that are part of the HapMap project. "" NA10863,NA12802,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18860,NA18972,NA18975,NA19007,NA19144,NA19221,NA19240 esv27097 6 26827342 26890518 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16154,esv15033 M 451 24 0 "" NA07037,NA07045,NA11894,NA11931,NA11995,NA12044,NA12489,NA12749,NA15510,NA18502,NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819801 6 26830076 26865677 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418722 S 2 0 1 "" AK1 nsv511119 6 26833790 26909260 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618649,nssv624303,nssv622373 M 4 0 0 "" CHM,NA10860,NA18994 esv5971 6 26835124 26882734 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28412 S 1 0 0 "" SJK nsv515030 6 26844994 26868760 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627033 S 1414 0 0 "" nsv442975 6 26845011 26876548 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2588727 6 26847595 26870465 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243406 S 1 0 0 "" NA18507 esv5658 6 26848181 26869278 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28099 S 1 0 0 "" SJK nsv823463 6 26848877 26868759 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432891,nssv1440207 M 31 0 2 "" NA18547,NA18972 esv1996763 6 26851717 26853330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889950 S 1 0 1 "" NA18507 esv5165 6 26851822 26853197 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27606 S 1 0 1 Single Asian sample YH "" YH esv6678 6 26851902 26853176 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29119 S 1 0 1 "" SJK nsv823465 6 26854400 26861484 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432908 S 31 0 1 "" NA18592 nsv436758 6 26855037 26856475 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466261 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv5233 6 26868454 26882769 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4900 S 9 1 0 "" NA19129 dgv6442n71 6 26889574 27050006 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883503,nsv883504 M 6533 2 0 GUSBP2,LINC00240 IS33552,IS37293 nsv509123 6 26894154 26909260 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620848 S 4 1 0 "" NA15510 nsv830615 6 26897962 27030200 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445298,nssv1445301,nssv1445302,nssv1445300,nssv1445299 M 95 5 0 GUSBP2 dgv7n29 6 26949062 27123577 CNV Gain Locke et al 2006 16826518 BAC_aCGH nsv469675,nsv469610 M 265 45 0 GUSBP2,LINC00240,LOC100270746 nsv471636 6 26949063 27146154 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549615,nssv549576,nssv549613,nssv549616,nssv650996,nssv549574,nssv549611,nssv549614,nssv549571,nssv549570,nssv549573,nssv549612,nssv549572,nssv549575 M 48 7 2 GUSBP2,LINC00240,LOC100270746 JK1058,JK1061,JK776,NA10470,NA10496,NA15725,NA15726,NA15729,NA17017 esv28434 6 26951792 27095894 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15177,esv19090,esv20357,esv10108,esv12091 M 451 20 5 GUSBP2,LINC00240,LOC100270746 NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18909,NA19129,NA19190 nsv10806 6 26958921 27079343 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15402,nssv13270,nssv16334,nssv15159,nssv16493,nssv14616,nssv14646,nssv15823,nssv15068,nssv13985,nssv14055,nssv14278,nssv16304,nssv14536,nssv14248,nssv15129,nssv16274,nssv14012 M 31 7 9 Samples from several populations that are part of the HapMap project. GUSBP2,LINC00240 NA07029,NA10847,NA10863,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18972,NA19144 nsv830616 6 26967076 27138455 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445304,nssv1445303,nssv1445305,nssv1445306,nssv1445308 M 95 5 0 GUSBP2,LINC00240,LOC100270746 nsv515031 6 26983010 26989720 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627034 S 1414 0 0 GUSBP2 nsv469625 6 27001718 27146154 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649550 M 265 17 0 Samples from several populations that are part of the HapMap project. GUSBP2,LINC00240,LOC100270746 essv13913 6 27033029 27203693 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LINC00240,LOC100270746 NA18854 esv2624135 6 27057644 27075966 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367864 S 1 0 1 LINC00240 NA18507 esv1679157 6 27176268 27176268 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652738 S 2 1 0 "" HuRef esv1381421 6 27176434 27176434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076624 S 2 1 0 "" HuRef esv33439 6 27184702 27186399 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95571 S 51 0 1 "" 21841 nsv883505 6 27318593 27408559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554342 S 6533 1 0 FKSG83,POM121L2,PRSS16 MS20741 nsv526241 6 27337244 27338794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702510 S 2026 0 1 "" nsv349023 6 27346223 27346294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367601 M 24 "" esv269225 6 27348302 27348614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539981,essv2575709,essv2574941,essv2572750,essv2545125,essv2549696,essv2547726 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA18489,NA19099,NA19138,NA19143,NA19172,NA19225 nsv883506 6 27379322 27396666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505953 S 6533 0 1 POM121L2 SP54043 nsv883507 6 27387961 27426815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503652 S 6533 0 1 FKSG83,POM121L2 SP52093 nsv348574 6 27421796 27421796 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367152 M 24 "" nsv5234 6 27453596 27486004 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3424 S 9 1 0 ZNF391 NA12878 esv1248333 6 27456516 27456566 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942572 S 2 0 1 "" HuRef nsv517557 6 27464506 27464904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652352,nssv672642 M 2026 0 2 ZNF391 nsv5235 6 27466477 27512053 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6059 S 9 0 1 ZNF391 NA12156 esv8003 6 27525867 27525953 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30444 S 1 1 0 "" SJK nsv830617 6 27532748 27706574 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445309 S 95 0 1 ZNF184 nsv883508 6 27542199 27563604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509459 S 6533 0 1 ZNF184 SP54792 nsv883509 6 27600885 27694160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574112 S 6533 0 1 "" IS33514 esv268911 6 27605981 27606318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513936 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv988094 6 27623461 27623461 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568440 S 3 1 0 "" HuRef esv1681610 6 27623504 27623504 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951368 S 2 1 0 "" HuRef nsv883510 6 27658691 27838043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527355,nssv1520120 M 6533 0 2 LOC100131289,LOC100507173 SP50694,SP58382 esv1096928 6 27665737 27665737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197872 S 2 1 0 "" HuRef nsv830618 6 27701253 27897584 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445310 S 95 1 0 HIST1H2AI,HIST1H2AJ,HIST1H2BL,HIST1H2BM,HIST1H3H,LOC100131289,LOC100507173 nsv525669 6 27731490 27765626 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701826 S 2026 1 0 "" nsv883511 6 27731490 27768487 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507325 S 6533 1 0 "" SP54526 nsv518945 6 27742619 27775992 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694291 S 2026 1 0 LOC100507173 nsv348612 6 27750910 27751069 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367190 M 24 "" nsv437481 6 27763075 27791551 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467362 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC100507173 NA19161 nsv437482 6 27778896 27791551 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467363 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC100507173 NA18521 esv25354 6 27783043 27787402 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20151 S 451 0 4 LOC100507173 NA12776,NA18861,NA19147,NA19190 nsv437961 6 27783269 27784773 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468725,nssv468723,nssv468726,nssv468724 M 269 0 4 Samples from several populations that are part of the HapMap project. LOC100507173 NA18521,NA18522,NA19160,NA19161 esv1426078 6 27791496 27791496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941354 S 2 1 0 "" HuRef nsv883512 6 27856610 28076983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554343 S 6533 1 0 HIST1H1B,HIST1H2AI,HIST1H2AJ,HIST1H2AK,HIST1H2AL,HIST1H2AM,HIST1H2BL,HIST1H2BM,HIST1H2BN,HIST1H2BO,HIST1H3H,HIST1H3I,HIST1H3J,HIST1H4J,HIST1H4K,HIST1H4L,OR2B2,OR2B6 MS20741 esv1021818 6 27902712 27903066 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738512 S 2 0 1 "" HuRef esv1136957 6 27903076 27903351 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662847 S 2 0 1 "" HuRef nsv830619 6 27980281 28170523 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445311 S 95 0 1 OR2B2,OR2B6,ZNF165,ZSCAN12P1 esv271925 6 27993476 27993815 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514572,essv2517431,essv2514416 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA12874 nsv527562 6 27994809 28003192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704023 S 2026 0 1 "" nsv5236 6 28055657 28073548 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4901 S 9 1 0 "" NA19129 nsv883513 6 28090131 28141066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596174 S 6533 1 0 "" IS40429 nsv525713 6 28126923 28129568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701875 S 2026 0 1 "" esv1558816 6 28130458 28130458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039878 S 2 1 0 "" HuRef esv1079720 6 28130472 28130472 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938286 S 2 1 0 "" HuRef esv33436 6 28152325 28157022 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98721,essv93615,essv100005 M 51 3 0 ZNF165 21606,21972,22086 dgv1005n67 6 28154599 28156614 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823466,nsv823467 M 31 2 0 ZNF165 AK2,NA18582 nsv349384 6 28183865 28188745 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367962 M 24 "" esv271743 6 28222897 28222982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518858,essv2518198,essv2519418 M 157 3 0 Samples from several populations that are part of the HapMap project. ZNF192 NA07346,NA19239,NA19240 esv273662 6 28222899 28223241 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579269,essv2579469 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNF192 NA19239,NA19240 nsv507320 6 28249266 28255266 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622965,nssv621832,nssv620335 M 4 3 0 "" NA10860,NA15510,NA18994 nsv436798 6 28251631 28251866 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466263 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv512872 6 28251801 28252044 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625515 S 1 1 0 "" 1 dgv6443n71 6 28263397 28293705 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883516,nsv883514,nsv883515 M 6533 0 3 TOB2P1 SP53041,SP56260,SP56307 nsv830620 6 28281976 28456012 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445312,nssv1445314,nssv1445313 M 95 0 3 NKAPL,PGBD1,TOB2P1,ZKSCAN3,ZKSCAN4,ZNF187,ZNF193,ZNF323,ZSCAN12 nsv527115 6 28293705 28294533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703497 S 2026 0 1 TOB2P1 esv2634712 6 28297650 28299340 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361375 S 1 0 1 "" NA18507 esv2131329 6 28297966 28298720 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667361 S 1 0 1 "" NA18507 esv3710 6 28298109 28298581 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26151 S 1 0 1 Single Asian sample YH "" YH esv2641632 6 28298176 28298512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296231 S 1 0 1 "" NA18507 esv7973 6 28298182 28298517 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30414 S 1 0 1 "" SJK esv1204759 6 28298186 28298523 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331610 S 2 0 1 "" HuRef nsv348491 6 28298187 28298523 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367069 M 24 "" esv272020 6 28401261 28401551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501018,essv2498532,essv2501775,essv2497988 M 157 4 0 Samples from several populations that are part of the HapMap project. ZNF323 NA18856,NA18858,NA19239,NA19240 esv274203 6 28401287 28401538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579196,essv2579551 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNF323 NA19239,NA19240 esv2014851 6 28415483 28415933 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879706 S 1 0 1 "" NA18507 nsv349714 6 28415601 28415701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368292 M 24 "" nsv349967 6 28424609 28424685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368545 M 24 "" esv1269793 6 28424915 28424969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342611 S 2 0 1 "" HuRef esv2182271 6 28458479 28458944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857572 S 1 0 1 ZSCAN12 NA18507 nsv5237 6 28524527 28557977 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4902 S 9 1 0 "" NA19129 nsv830621 6 28581930 28783688 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445315 S 95 1 0 GPX5,GPX6,SCAND3 nsv435838 6 28615859 28622242 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466264 S 2 0 1 "" NA15510 esv268747 6 28622288 28622545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500849,essv2493162,essv2496516,essv2494985,essv2508955,essv2505949,essv2501383,essv2506440,essv2499047,essv2510914,essv2509583,essv2497498,essv2496891,essv2511950,essv2498229,essv2502032,essv2503996 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11830,NA18504,NA18510,NA18520,NA18522,NA18861,NA19093,NA19108,NA19114,NA19116,NA19129,NA19147,NA19190,NA19238,NA19240,NA19257 esv273837 6 28622302 28622530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580960,essv2579695 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv27401 6 28738455 28741157 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20874 S 451 1 0 "" NA19099 esv1335215 6 28788635 28788635 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136684 S 2 1 0 "" HuRef esv1291116 6 28788647 28788647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873813 S 2 1 0 "" HuRef nsv883517 6 28859706 28910128 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516357 S 6533 1 0 "" SP56795 esv2621756 6 28870671 28887770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207421 S 1 0 1 "" NA18507 esv2322180 6 28872654 28888557 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530880 S 1 0 1 "" NA18507 esv9558 6 28878573 28892983 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31999 S 1 0 1 "" SJK nsv883518 6 28900456 29019781 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588193 S 6533 0 1 LOC401242,TRIM27 IS38176 nsv883519 6 28900456 29044535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553228 S 6533 1 0 LOC401242,TRIM27 MS19842 nsv462667 6 28941204 29001906 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538766 S 1557 1 0 TRIM27 NINDS_178 esv28254 6 28947140 28947919 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12675 S 451 0 1 "" NA18517 esv1546913 6 28948162 28948162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901125 S 2 1 0 "" HuRef nsv510021 6 28967144 28973144 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622110 S 4 0 1 "" NA10860 nsv830622 6 28969646 29123783 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445316 S 95 1 0 LOC100129636,OR2W1,TRIM27,ZNF311 nsv5238 6 28977339 29011880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv539 S 9 1 0 TRIM27 NA19240 esv1445670 6 29002698 29003317 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313901 S 2 0 1 "" HuRef esv8736 6 29005395 29005992 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31177 S 1 0 1 "" SJK esv1712925 6 29047518 29047518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3815496 S 2 1 0 "" HuRef esv2314693 6 29079984 29080488 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828083 S 1 0 1 ZNF311 NA18507 esv4265 6 29080071 29080432 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26706 S 1 0 1 Single Asian sample YH ZNF311 YH esv2609234 6 29080190 29080294 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391719 S 1 0 1 ZNF311 NA18507 nsv349494 6 29080201 29080305 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368072 M 24 ZNF311 nsv830623 6 29097686 29279364 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445317 S 95 1 0 LOC100129636,OR2B3,OR2J2,OR2J3,OR2W1 esv33399 6 29165099 29165342 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99329 S 51 1 0 "" 22275 dgv6444n71 6 29172751 29275554 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883520,nsv883521 M 6533 0 2 OR2J2,OR2J3 SP52094,SP57418 nsv428138 6 29173489 29321155 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450619,nssv450621 M 62 1 1 OR2J2,OR2J3 HGDP00449,HGDP01093 esv33902 6 29175162 29175384 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97554,essv98281 M 51 0 2 "" 21616,21772 nsv883522 6 29196794 29275554 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507659,nssv1512814,nssv1514764,nssv1516345,nssv1502089 M 6533 1 4 OR2J2 SP51025,SP54561,SP55637,SP56064,SP56795 esv27226 6 29199518 29271828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18425 S 451 0 1 OR2J2 NA12749 nsv823468 6 29201815 29264398 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426731 S 31 0 1 OR2J2 NA18947 nsv462670 6 29207558 29257540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538767 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR2J2 HGDP00581 nsv517415 6 29207558 29257540 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686343,nssv664634,nssv661918,nssv682052,nssv651957 M 2026 0 5 OR2J2 esv32739 6 29211040 29211111 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97970,essv93134,essv97335,essv99045,essv93563,essv96566,essv99311,essv94255 M 51 0 8 "" 21837,21863,21879,21938,22128,22261,22275,22394 nsv883523 6 29211551 29275554 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517848 S 6533 0 1 OR2J2 SP57379 nsv526153 6 29212914 29292639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702412 S 2026 0 1 OR2J2 dgv6445n71 6 29227138 29275554 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883524,nsv883526 M 6533 0 3 OR2J2 SP50725,SP52114,SP56224 nsv883525 6 29237962 29263728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517146 S 6533 0 1 OR2J2 SP57197 nsv523119 6 29287216 29292639 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698819 S 2026 1 0 "" esv26728 6 29311134 29332076 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14111 S 451 1 0 "" NA19257 nsv830624 6 29382504 29553544 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445319 S 95 0 1 OR10C1,OR11A1,OR12D2,OR12D3,OR14J1,OR2H1,OR5V1 nsv520169 6 29410009 29432578 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697260 S 2026 1 0 OR5V1 esv2556723 6 29412901 29414331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244107 S 1 0 1 "" NA18507 esv1430816 6 29440273 29440591 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852838 S 2 0 1 "" HuRef nsv883527 6 29450804 29462778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513189 S 6533 0 1 OR12D3 SP55694 nsv519453 6 29451334 29459852 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695882,nssv702300,nssv686457,nssv656239,nssv703903 M 2026 2 3 "" esv2639371 6 29471378 29472748 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388327 S 1 0 1 OR12D2 NA18507 esv2002935 6 29471692 29472223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827840 S 1 0 1 "" NA18507 esv4165 6 29471827 29472097 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26606 S 1 0 1 Single Asian sample YH "" YH esv1509403 6 29471889 29472032 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735715 S 2 0 1 "" HuRef nsv348961 6 29471890 29472032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367539 M 24 "" esv29293 6 29521506 29523627 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15709 S 451 0 1 "" NA19129 nsv883528 6 29555703 29602876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582742,nssv1600392,nssv1552681,nssv1556997 M 6533 0 4 MAS1L IS36131,IS41877,MS19584,MS22322 nsv883529 6 29572344 29602876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556114 S 6533 0 1 "" MS21814 dgv1908e1 6 29577080 29780644 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10262,esv171 M 271 0 0 GABBR1,LOC100507362,MOG,OR2H2,SNORD32B,UBD,ZFP57 NA18506 nsv10807 6 29606307 29609318 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14676,nssv13492 M 31 0 2 Samples from several populations that are part of the HapMap project. LOC100507362 NA10863,NA18942 essv18215 6 29619625 29712971 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GABBR1,OR2H2,SNORD32B,UBD NA12057 nsv5239 6 29635386 29674425 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9890 S 9 0 1 OR2H2,SNORD32B,UBD NA18507 esv2504304 6 29652243 29661286 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271337 S 1 0 1 SNORD32B NA18507 dgv376n21 6 29652804 29658597 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522325,nsv527592 M 2026 0 2 SNORD32B esv2302804 6 29652812 29660930 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569104 S 1 0 1 SNORD32B NA18507 nsv519288 6 29653694 29667274 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696770 S 2026 0 1 OR2H2,SNORD32B nsv462671 6 29674821 29696125 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538768 S 1557 0 1 GABBR1 NINDS_65 nsv528285 6 29674821 29696125 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704855 S 2026 1 0 GABBR1 nsv526617 6 29679524 29684372 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702937 S 2026 0 1 GABBR1 nsv527037 6 29723801 29732091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703413 S 2026 0 1 "" nsv883530 6 29753017 29785620 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552124 S 6533 0 1 "" MS19226 nsv10808 6 29756030 29761162 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15091 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv25966 6 29761933 30036820 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18554,esv13518,esv15726,esv15908,esv17468,esv11180,esv12140,esv10151,esv20940,esv20324,esv20595,esv15856,esv10073 M 451 35 10 HCG4,HCG4B,HLA-A,HLA-F,HLA-F-AS1,HLA-G,HLA-H,IFITM4P,LOC554223 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv428139 6 29767504 30000296 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450627,nssv450622,nssv450628,nssv450629,nssv450624,nssv450623 M 62 6 0 HCG4,HLA-F,HLA-F-AS1,HLA-G,HLA-H,IFITM4P,LOC554223 HGDP00462,NA18498,NA19096,NA19108,NA19189,NA19257 nsv508397 6 29771111 29869427 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622544 S 4 0 1 HCG4,HLA-F,HLA-F-AS1,IFITM4P,LOC554223 NA18994 nsv519888 6 29776516 29781462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689592,nssv683789,nssv659313 M 2026 0 3 "" esv273082 6 29788342 29788502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580613,essv2579068,essv2579684 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269851 6 29788401 29788547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503222,essv2504437,essv2500182,essv2512474,essv2513217,essv2503385,essv2511855,essv2504131,essv2509742,essv2493695,essv2508777,essv2508241,essv2498599,essv2502466,essv2495131,essv2502619,essv2512065,essv2501740,essv2498245 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11993,NA12006,NA12043,NA12249,NA12716,NA18499,NA18505,NA18508,NA18517,NA18532,NA18561,NA18858,NA18948,NA18964,NA18965,NA19238,NA19239,NA19240 esv2634641 6 29792573 29796488 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273825 S 1 0 1 "" NA18507 esv2360078 6 29793273 29796263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879637 S 1 0 1 "" NA18507 nsv511859 6 29793425 29796069 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624390 S 1 0 1 "" 1 esv3774 6 29793435 29796135 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26215 S 1 0 1 Single Asian sample YH "" YH esv8126 6 29793467 29796057 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30567 S 1 0 1 "" SJK nsv462673 6 29797569 29808162 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538770 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HLA-F,HLA-F-AS1 HGDP00891 esv2291610 6 29798325 29798822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841137 S 1 0 1 "" NA18507 esv3836 6 29798446 29798715 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26277 S 1 0 1 Single Asian sample YH "" YH nsv883531 6 29800541 29813381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501921 S 6533 0 1 HLA-F,HLA-F-AS1 SP51109 nsv10809 6 29800552 29902098 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13727,nssv15151,nssv13940 M 31 3 0 Samples from several populations that are part of the HapMap project. HCG4,HLA-F,HLA-F-AS1,IFITM4P,LOC554223 NA18563,NA18853,NA19240 nsv507321 6 29806700 29812700 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620336,nssv621833 M 4 2 0 HLA-F-AS1 NA10860,NA15510 nsv883532 6 29811241 29922942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558380 S 6533 0 1 HCG4,HLA-F-AS1,HLA-G,IFITM4P,LOC554223 MS23257 nsv883533 6 29812216 29823976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556710 S 6533 0 1 HLA-F-AS1 MS22122 nsv883534 6 29816201 29832289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530534 S 6533 0 1 HLA-F-AS1,IFITM4P MS10311 nsv527368 6 29817819 29820683 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703799 S 2026 0 1 HLA-F-AS1 nsv883535 6 29833300 29849317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592619 S 6533 1 0 "" IS39243 nsv527477 6 29853054 29854848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703921 S 2026 0 1 "" dgv6446n71 6 29854002 29868798 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883536,nsv883538 M 6533 0 2 HCG4,LOC554223 IS37293,MS18965 nsv883537 6 29854002 29875590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556711 S 6533 0 1 HCG4,LOC554223 MS22122 nsv883539 6 29856185 29888508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553347 S 6533 0 1 HCG4,LOC554223 MS19941 esv2591572 6 29870677 29872216 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185148 S 1 0 1 LOC554223 NA18507 nsv350049 6 29871282 29871468 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368627 M 24 LOC554223 nsv883540 6 29880374 29892296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592620 S 6533 1 0 "" IS39243 dgv1909e1 6 29900413 30000296 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17580,essv20264,essv5521,essv8831,essv15829,essv21023,essv1857,essv14288,essv11163,essv10417,essv23366,essv21822,essv23915,essv18213,essv17951,essv21693,essv3373,essv1199,essv2972 M 271 0 0 HLA-G,HLA-H NA06991,NA11839,NA12003,NA12057,NA12144,NA12248,NA12750,NA12762,NA12814,NA18508,NA18529,NA18945,NA18951,NA18976,NA18981,NA19194,NA19211,NA19222,NA19223 dgv1910e1 6 29900413 30083123 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv521,essv20027,essv2179 M 271 0 0 HCG4B,HCG9,HLA-A,HLA-G,HLA-H,HLA-J,ZNRD1-AS1 NA07048,NA18960 dgv6447n71 6 29912155 29924350 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883541,nsv883542 M 6533 0 4 "" IS35605,IS41848,MS19414,MS23531 nsv522398 6 29920009 29920953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695178 S 2026 0 1 "" nsv883543 6 29920009 29926071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557611 S 6533 0 1 "" MS22770 esv2553859 6 29922399 29924093 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237204 S 1 0 1 "" NA18507 nsv820564 6 29922809 30031254 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420578 S 1 0 1 HCG4B,HLA-A,HLA-H NA10851 nsv823469 6 29922809 30031254 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426743,nssv1438861,nssv1437465,nssv1432919,nssv1421740,nssv1435113,nssv1441087,nssv1428305,nssv1423431,nssv1424242,nssv1433673 M 31 0 11 HCG4B,HLA-A,HLA-H AK10,NA18526,NA18582,NA18592,NA18942,NA18947,NA18949,NA18969,NA18973,NA18997,NA18999 esv2344883 6 29922873 29923663 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800432 S 1 0 1 "" NA18507 nsv511326 6 29922942 29923616 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625522 S 1 0 1 "" 1 nsv348699 6 29923215 29923586 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367277 M 24 "" esv1689559 6 29923301 29923549 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592692 S 2 0 1 "" HuRef esv272332 6 29926805 29927159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580055,essv2579227 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239 esv270925 6 29926812 29927150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565714,essv2575893,essv2571633,essv2546488,essv2526204,essv2542278,essv2536387,essv2522694,essv2543872,essv2545427,essv2577582,essv2570551,essv2548495,essv2550746,essv2535182,essv2554116,essv2520472,essv2547464,essv2558449,essv2564349,essv2559711,essv2565344,essv2576177,essv2561910,essv2546641,essv2530499,essv2550183,essv2523787,essv2541290,essv2538452,essv2542950,essv2540625,essv2524320,essv2564864,essv2539779,essv2549341,essv2519525,essv2559906,essv2531058,essv2532491,essv2567786,essv2553484,essv2572310,essv2543506,essv2555393,essv2567138,essv2557676,essv2556045,essv2534325,essv2531399,essv2526826,essv2560794,essv2574679,essv2546040,essv2538026,essv2533260,essv2547951 M 157 57 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07347,NA11829,NA11830,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA12003,NA12043,NA12044,NA12045,NA12155,NA12249,NA12287,NA12716,NA12717,NA12750,NA12751,NA12776,NA12812,NA12814,NA12874,NA12892,NA18486,NA18511,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18605,NA18609,NA18870,NA18943,NA18947,NA18953,NA18956,NA18959,NA18961,NA19005,NA19137,NA19138,NA19239 esv1012458 6 29926851 29926851 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4334030 S 2 1 0 "" HuRef esv3351 6 29927342 29994496 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25792 S 1 0 0 Single Asian sample YH HLA-H YH nsv508398 6 29933756 30111382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619972,nssv622545,nssv618786 M 4 0 3 HCG4B,HCG9,HLA-A,HLA-H,HLA-J,ZNRD1-AS1 NA10860,NA15510,NA18994 esv32544 6 29939695 30052082 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101464,essv101480,essv98877,essv100679,essv98283,essv94771,essv94085,essv94436,essv96938,essv97856,essv97825,essv97794,essv95347,essv97387,essv101649,essv101695,essv94624,essv94514,essv99003,essv92862,essv92704,essv93682,essv93749,essv96660,essv97228,essv98543,essv98647,essv99879,essv93491,essv94976,essv92624,essv96424,essv99151,essv97646,essv97656,essv97746,essv100119,essv100616,essv100527,essv100500,essv100362 M 51 25 8 HCG4B,HCG9,HLA-A,HLA-H 21603,21606,21656,21772,21791,21802,21808,21817,21837,21872,21879,21909,21932,21938,21939,21944,21972,22011,22075,22085,22086,22128,22231,22233,22261,22275,22278,22286,22298,22300 dgv6448n71 6 29940311 29986717 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883546,nsv883548,nsv883545,nsv883544 M 6533 6 0 HLA-H IS33531,IS38111,IS38216,IS40657,SP56072,SP57266 esv9076 6 29940503 29984762 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31517 S 1 0 1 HLA-H SJK dgv739n27 6 29941520 29976963 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462675,nsv462674 M 1557 2 0 HLA-H HGDP00058,HGDP00098 nsv526095 6 29942020 29967496 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702343 S 2026 1 0 HLA-H dgv1911e1 6 29942451 30026432 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8971,essv18687,essv7502,essv6412,essv1074,essv616,essv1670,essv17674,essv198,essv1585,essv4523,essv3497,essv12933,essv6517,essv21644,essv1338,essv11337,essv13297,essv14845,essv6930,essv13376,essv2362,essv5005,essv20740,essv3643,essv21615,essv13225,essv8702,essv12089,essv12033,essv20702,essv19041,essv23740,essv12140,essv5612,essv604,essv22009,essv14045,essv6432,essv11298,essv4338,essv24024,essv10502,essv20486,essv24610,essv2711,essv7450,essv22709,essv5663,essv17412,essv935,essv6094,essv509,essv2111,essv18568,essv12883,essv14903,essv3588,essv3932,essv16171,essv1816 M 271 0 0 HCG4B,HLA-A,HLA-H NA07034,NA07348,NA07357,NA10835,NA10851,NA12004,NA12056,NA12760,NA12761,NA12802,NA12813,NA12815,NA12873,NA12874,NA12875,NA18502,NA18506,NA18526,NA18545,NA18561,NA18571,NA18572,NA18582,NA18592,NA18593,NA18608,NA18621,NA18622,NA18623,NA18862,NA18863,NA18944,NA18947,NA18949,NA18952,NA18959,NA18969,NA18970,NA18971,NA18973,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19094,NA19099,NA19116,NA19119,NA19120,NA19128,NA19129,NA19139,NA19143,NA19159,NA19173,NA19200,NA19202 dgv1912e1 6 29942451 30073480 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8417,essv17403,essv1981 M 271 0 0 HCG4B,HCG9,HLA-A,HLA-H NA18855,NA18942,NA19093 dgv211e55 6 29944442 30024232 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752113,esv34603,esv34987 M 771 0 3 HCG4B,HLA-A,HLA-H BEC_104,NA12760,NA18951 nsv883547 6 29945167 29951905 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557025 S 6533 1 0 "" MS22337 esv2422122 6 29945167 29957246 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5154702,essv5113227,essv5119654,essv5050984,essv5129424,essv5071742,essv5061567,essv5042708,essv5082259,essv5068980,essv5026025,essv5029928,essv5046989,essv5138180,essv5005829,essv5040585,essv5093392,essv5077863,essv5044126,essv5057550,essv5062174,essv5020568,essv5103499,essv5069565,essv5106243,essv5085505,essv5106843,essv5076239,essv5037211,essv5091154,essv5065473,essv5067945,essv5128451,essv5140642,essv5138797,essv5097183,essv5085992,essv5082804,essv5086486,essv5077606,essv5064761,essv5141279,essv5145961,essv5014973,essv5118859,essv5111049,essv5125358,essv5095738,essv5073319,essv5020126,essv5109516,essv5089939,essv5024940,essv5108175,essv5148527,essv5087598,essv5089847,essv5108921,essv5127279,essv5012956,essv5128722,essv5076273,essv5076769,essv5100698,essv5090754,essv5003229,essv5051248,essv5092163,essv5014815,essv5016486,essv5093631,essv5012119,essv5122162,essv5034765,essv5073761,essv5003570,essv5134086,essv5134347,essv5158632,essv5095669,essv5057821,essv5150145,essv5073250,essv5156648,essv5130658,essv5115762,essv5140767,essv5124358,essv5036966,essv5002152,essv5089590,essv5030196,essv5099646,essv5140738,essv5009314,essv5022830,essv5119037,essv5045222,essv5084632,essv5036386,essv5093020,essv5086708,essv5047165,essv5012392,essv5058022,essv5050288,essv5133961,essv5128574,essv5094050,essv5153626,essv5111610,essv5004095,essv5137881,essv5083170,essv5036068,essv5042348,essv5143894,essv5117489,essv5079647,essv5028847,essv5080792,essv5117314,essv5142599,essv5149477,essv5069929,essv5015210,essv5051161,essv5020748,essv5104562,essv5093370,essv5101362,essv5042576,essv5073088,essv5055687,essv5088052,essv5101113,essv5158808,essv5119554,essv5153215,essv5159103,essv5110769,essv5046023,essv5038377,essv5028481,essv5035723,essv5039701,essv5119099,essv5015852,essv5046429,essv5042122,essv5118686,essv5008395,essv5105462,essv5151393,essv5003363,essv5076149,essv5112197,essv5018563,essv5006390,essv5118816,essv5125324,essv5150696,essv5086332,essv5051635,essv5121166,essv5118980,essv5063346,essv5044968,essv5085077,essv5160383,essv5023000,essv5125443,essv5074237,essv5022711,essv5048658,essv5075685,essv5158684,essv5134601,essv5038928,essv5015543,essv5063836,essv5005110,essv5118332,essv5142555,essv5125956,essv5134340,essv5034504,essv5116365,essv5131721,essv5105015,essv5016582,essv5009837,essv5154377,essv5053927,essv5012104,essv5095839,essv5013185,essv5110958,essv5043482,essv5101026,essv5099393,essv5101145,essv5154522,essv5011976,essv5122370,essv5149731,essv5120252,essv5153233,essv5036176,essv5160034,essv5091993,essv5018594,essv5098815,essv5043899,essv5103545,essv5017361,essv5100294,essv5127643,essv5022666,essv5120551,essv5039729,essv5029414,essv5158393,essv5153927,essv5126518,essv5006720,essv5039754,essv5028518,essv5150969,essv5159432,essv5066475,essv5049973,essv5023751,essv5122683,essv5093662,essv5011602,essv5084150,essv5118698,essv5070224,essv5157145,essv5062495,essv5070590,essv5086155,essv5049283,essv5034216,essv5002442,essv5076270,essv5143496,essv5017499,essv5114163,essv5145800,essv5073223,essv5091311,essv5126520,essv5134659,essv5068804,essv5071515,essv5033436,essv5062169,essv5154287,essv5110002,essv5100297,essv5085586,essv5073363,essv5050091,essv5130453,essv5007292,essv5132747,essv5003354,essv5108359,essv5048081,essv5082656,essv5047278,essv5064850,essv5059160,essv5147833,essv5077638,essv5120142,essv5111176,essv5131670,essv5119202,essv5010039,essv5078666,essv5008675,essv5010845,essv5148822,essv5138857,essv5032673,essv5121867,essv5025442,essv5011993,essv5120085,essv5008497,essv5073022,essv5055538,essv5089643,essv5120079,essv5101304,essv5046427,essv5022077,essv5132897,essv5114985,essv5157281,essv5068101,essv5042845,essv5086992,essv5126953,essv5019094,essv5045601,essv5100940,essv5118508,essv5108844,essv5037897,essv5013443,essv5124754,essv5116308,essv5028532,essv5102223,essv5056530,essv5123000,essv5080555,essv5148856,essv5074739,essv5035439,essv5049770,essv5068608,essv5147052,essv5087694,essv5115846,essv5045174,essv5016760,essv5119626,essv5131851,essv5037774,essv5013986,essv5011984,essv5071152,essv5149931,essv5102637,essv5018600,essv5070939,essv5048918,essv5088992,essv5030557,essv5123171,essv5003588,essv5092670,essv5002189,essv5070267,essv5054519,essv5075162,essv5013126,essv5067915,essv5023412,essv5051394,essv5049767,essv5147469,essv5148727,essv5014568,essv5107850,essv5069093,essv5078740,essv5013289,essv5109405,essv5121219,essv5066777,essv5093010,essv5121582,essv5134033,essv5069575,essv5060960,essv5109354,essv5003233,essv5003788,essv5093085,essv5016246,essv5124440,essv5040621,essv5144668,essv5091295,essv5047523,essv5074160,essv5092571,essv5032891,essv5150882,essv5126768,essv5122145,essv5130547,essv5152679,essv5065282,essv5123092,essv5102760,essv5039363,essv5133021,essv5084645,essv5047049,essv5152705,essv5038651,essv5040227,essv5058834,essv5030493,essv5113155,essv5129059,essv5155479,essv5073772,essv5003264,essv5014828,essv5140848,essv5155927,essv5073896,essv5120220,essv5143070,essv5051844,essv5110759,essv5078475,essv5019646,essv5148032,essv5052813,essv5030311,essv5029902,essv5077064,essv5081070,essv5066235,essv5018857,essv5131104,essv5060274,essv5151517,essv5062574,essv5096151,essv5073300,essv5088124,essv5015575,essv5060545,essv5070082,essv5135006,essv5128246,essv5083097,essv5055372,essv5074366,essv5100642,essv5123065,essv5048583,essv5138374,essv5069613,essv5159284,essv5029491,essv5101094,essv5118460,essv5124778,essv5135214,essv5112387,essv5152026,essv5031717,essv5125030,essv5031775,essv5047592,essv5022626,essv5059185,essv5028552,essv5011559,essv5016948,essv5100277,essv5112148,essv5093579,essv5066657,essv5049261,essv5073482,essv5111031,essv5041121,essv5128380,essv5149046,essv5121225,essv5017103,essv5157184,essv5139431,essv5062540,essv5121338,essv5093030,essv5020744,essv5058470,essv5003573,essv5098768,essv5108256,essv5076974,essv5138746,essv5077735,essv5061805,essv5145367,essv5154976,essv5055795,essv5031654,essv5063210,essv5108892,essv5031899,essv5043204,essv5113873,essv5006671,essv5152587,essv5040942,essv5046529,essv5076831,essv5099739,essv5155358,essv5037324,essv5134429,essv5054198,essv5139305,essv5142531,essv5105545,essv5106446,essv5135191,essv5048183,essv5092948,essv5118901,essv5021480,essv5088294,essv5100308,essv5060557,essv5148582,essv5036954,essv5054221,essv5149011,essv5046977,essv5128376,essv5119671,essv5131088,essv5122375,essv5091611,essv5059210,essv5117348,essv5078903,essv5006748,essv5115214,essv5034529,essv5050467,essv5041563,essv5074525,essv5118377,essv5025671,essv5042565,essv5072107,essv5021269,essv5048123,essv5109622,essv5029826,essv5055779,essv5088505,essv5011569,essv5155699,essv5057678,essv5043937,essv5099613,essv5148531,essv5137552,essv5010262,essv5100874,essv5054676,essv5022116,essv5105481,essv5031333,essv5004555,essv5075920,essv5104056,essv5158375,essv5147911,essv5006315,essv5160934,essv5109970,essv5058771,essv5124819,essv5052420,essv5029331,essv5140829,essv5153854,essv5130578,essv5109240,essv5055597,essv5135500,essv5147830,essv5023736,essv5062244,essv5080142,essv5133634,essv5042130,essv5015401,essv5045803,essv5144813,essv5107168,essv5099794,essv5046132,essv5109838,essv5011183,essv5041550,essv5093428,essv5031044,essv5135384,essv5054208,essv5072999,essv5059879,essv5011620,essv5066788,essv5024085,essv5064268,essv5040684,essv5079444,essv5057305,essv5157258,essv5085860,essv5146576,essv5072985,essv5005750,essv5059162,essv5029283,essv5055165,essv5093518,essv5083529,essv5050242,essv5002027,essv5115771,essv5130340,essv5083352,essv5038975,essv5136036,essv5102775,essv5084700,essv5104311,essv5068943,essv5100968,essv5068288,essv5115873,essv5127923,essv5050828,essv5035519,essv5147756,essv5124022,essv5006894,essv5138298,essv5098919,essv5070899,essv5095918,essv5048137,essv5060270,essv5072376,essv5018349,essv5145439,essv5036740,essv5096193,essv5092715,essv5011701,essv5103329,essv5115941,essv5039240,essv5118089,essv5158176,essv5101918,essv5144851,essv5080275,essv5146158,essv5019856,essv5156684,essv5152714,essv5071718,essv5092226,essv5081195,essv5042065 M 1184 208 457 "" NA06989,NA06993,NA06994,NA06995,NA07000,NA07014,NA07022,NA07029,NA07031,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10840,NA10846,NA10853,NA10854,NA10855,NA10856,NA10861,NA10863,NA10865,NA11829,NA11830,NA11832,NA11839,NA11840,NA11882,NA11893,NA11917,NA11918,NA11920,NA11992,NA11993,NA11995,NA12003,NA12005,NA12043,NA12044,NA12057,NA12145,NA12155,NA12239,NA12248,NA12249,NA12272,NA12273,NA12275,NA12282,NA12336,NA12342,NA12343,NA12344,NA12375,NA12376,NA12383,NA12399,NA12707,NA12716,NA12718,NA12748,NA12751,NA12752,NA12753,NA12760,NA12762,NA12775,NA12777,NA12778,NA12801,NA12802,NA12812,NA12827,NA12828,NA12830,NA12843,NA12865,NA12873,NA12889,NA17962,NA17966,NA17970,NA17972,NA17979,NA17982,NA17983,NA17987,NA17989,NA17990,NA17997,NA17998,NA17999,NA18112,NA18118,NA18124,NA18129,NA18133,NA18136,NA18140,NA18146,NA18147,NA18148,NA18149,NA18159,NA18160,NA18162,NA18166,NA18484,NA18486,NA18488,NA18497,NA18499,NA18504,NA18505,NA18506,NA18509,NA18511,NA18515,NA18518,NA18524,NA18526,NA18529,NA18532,NA18542,NA18543,NA18550,NA18552,NA18562,NA18564,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18594,NA18595,NA18596,NA18602,NA18603,NA18605,NA18608,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18620,NA18621,NA18622,NA18624,NA18627,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18674,NA18685,NA18694,NA18740,NA18745,NA18747,NA18748,NA18749,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18872,NA18875,NA18910,NA18911,NA18913,NA18916,NA18925,NA18930,NA18935,NA18940,NA18942,NA18943,NA18945,NA18948,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18960,NA18962,NA18964,NA18966,NA18967,NA18969,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18987,NA18990,NA18993,NA18994,NA18995,NA18999,NA19000,NA19007,NA19027,NA19031,NA19038,NA19041,NA19044,NA19046,NA19056,NA19058,NA19063,NA19066,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19080,NA19084,NA19085,NA19094,NA19096,NA19097,NA19099,NA19101,NA19108,NA19109,NA19113,NA19115,NA19116,NA19119,NA19120,NA19122,NA19123,NA19127,NA19130,NA19131,NA19137,NA19140,NA19146,NA19148,NA19150,NA19151,NA19153,NA19159,NA19160,NA19172,NA19178,NA19179,NA19181,NA19183,NA19185,NA19186,NA19190,NA19194,NA19197,NA19198,NA19201,NA19202,NA19204,NA19207,NA19208,NA19210,NA19211,NA19213,NA19215,NA19224,NA19225,NA19226,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19316,NA19318,NA19321,NA19332,NA19347,NA19350,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19376,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19472,NA19473,NA19474,NA19649,NA19650,NA19654,NA19657,NA19658,NA19659,NA19661,NA19664,NA19665,NA19669,NA19670,NA19675,NA19677,NA19679,NA19680,NA19681,NA19682,NA19683,NA19685,NA19686,NA19703,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19718,NA19721,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19751,NA19755,NA19759,NA19760,NA19763,NA19770,NA19775,NA19776,NA19777,NA19778,NA19780,NA19781,NA19783,NA19784,NA19788,NA19790,NA19794,NA19795,NA19796,NA19819,NA19909,NA19914,NA19916,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20276,NA20279,NA20282,NA20289,NA20290,NA20291,NA20294,NA20319,NA20322,NA20334,NA20335,NA20336,NA20340,NA20341,NA20342,NA20344,NA20346,NA20349,NA20358,NA20363,NA20505,NA20506,NA20509,NA20516,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20527,NA20529,NA20531,NA20534,NA20535,NA20538,NA20539,NA20541,NA20542,NA20543,NA20582,NA20588,NA20589,NA20753,NA20754,NA20757,NA20765,NA20768,NA20770,NA20771,NA20772,NA20773,NA20775,NA20778,NA20783,NA20785,NA20787,NA20792,NA20795,NA20796,NA20799,NA20800,NA20801,NA20802,NA20804,NA20806,NA20810,NA20811,NA20812,NA20815,NA20816,NA20828,NA20845,NA20846,NA20847,NA20850,NA20851,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20873,NA20874,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20888,NA20889,NA20890,NA20891,NA20894,NA20895,NA20896,NA20897,NA20900,NA20903,NA20904,NA20907,NA20908,NA20910,NA20911,NA21089,NA21090,NA21092,NA21097,NA21098,NA21100,NA21101,NA21102,NA21111,NA21115,NA21116,NA21119,NA21142,NA21297,NA21302,NA21303,NA21311,NA21312,NA21313,NA21314,NA21320,NA21336,NA21339,NA21352,NA21353,NA21359,NA21362,NA21363,NA21365,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21391,NA21399,NA21400,NA21402,NA21403,NA21415,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21438,NA21440,NA21442,NA21451,NA21453,NA21454,NA21457,NA21475,NA21477,NA21478,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21509,NA21510,NA21514,NA21520,NA21521,NA21522,NA21523,NA21524,NA21526,NA21529,NA21573,NA21574,NA21575,NA21576,NA21578,NA21580,NA21582,NA21583,NA21599,NA21600,NA21608,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21634,NA21636,NA21647,NA21648,NA21650,NA21683,NA21686,NA21733,NA21738,NA21768,NA21825,NA21826 nsv442976 6 29945171 30029106 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HCG4B,HLA-A,HLA-H nsv10810 6 29945444 30069394 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15158,nssv15219,nssv13970,nssv13886,nssv14308,nssv14596,nssv15181,nssv15128,nssv16011,nssv16523,nssv14017,nssv13987,nssv14268,nssv14298,nssv16560,nssv13552,nssv13817,nssv14015,nssv14115,nssv13847,nssv15897,nssv14583,nssv15981,nssv15867,nssv15189,nssv15853,nssv13974,nssv13787,nssv13855,nssv14102,nssv14464,nssv16364,nssv13522,nssv14338,nssv13582,nssv14494,nssv14566,nssv14826,nssv14145,nssv13001,nssv14706,nssv15211,nssv14328,nssv13856,nssv14796,nssv14042 M 31 25 5 Samples from several populations that are part of the HapMap project. HCG4B,HCG9,HLA-A,HLA-H NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 nsv5240 6 29946438 30036537 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4903 S 9 0 1 HCG4B,HLA-A,HLA-H NA19129 dgv6449n71 6 29948361 29967687 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883552,nsv883551,nsv883554,nsv883560,nsv883553,nsv883549 M 6533 20 0 HLA-H IS35277,IS36735,IS37775,IS38285,IS38333,IS39000,IS40429,MS12731,MS12996,MS14837,MS14855,MS14938,MS16707,MS16847,MS16934,MS18170,MS18715,MS25710,MS25814,MS25946 nsv883550 6 29948627 29963685 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576114,nssv1597822 M 6533 1 1 HLA-H IS33878,IS40947 dgv6450n71 6 29948627 29981029 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883561,nsv883555,nsv883562 M 6533 3 0 HLA-H IS36460,MS19068,MS22748 dgv6451n71 6 29948627 30003090 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883556,nsv883557,nsv883558 M 6533 3 0 HCG4B,HLA-H MS14326,MS18667,MS20618 nsv883559 6 29948627 30031107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536811 S 6533 1 0 HCG4B,HLA-A,HLA-H MS12968 dgv108n16 6 29950907 29957475 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436508,nsv435835 M 2 0 2 "" NA15510,NA18505 esv2046283 6 29950947 29951452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668561 S 1 0 1 "" NA18507 nsv511860 6 29951308 29959297 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624391 S 1 0 1 "" 1 esv1306517 6 29951727 29957395 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989537 S 2 0 1 "" HuRef dgv6452n71 6 29951905 30007606 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883569,nsv883563,nsv883596,nsv883595,nsv883597,nsv883591,nsv883589,nsv883587,nsv883604 M 6533 0 24 HCG4B,HLA-H IS30189,IS34737,IS38338,IS41317,IS41809,IS41862,IS41940,MS11105,MS11482,MS11703,MS14359,MS17678,MS20286,MS20828,MS21258,MS22959,MS23184,SP52893,SP54587,SP55021,SP56007,SP57297,SP58007,SP58537 esv2589773 6 29952145 30013201 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370946 S 1 0 1 HCG4B,HLA-H NA18507 dgv6453n71 6 29954369 29967687 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883564,nsv883565 M 6533 2 0 HLA-H MS10400,MS10545 dgv6454n71 6 29955121 29982364 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883577,nsv883598,nsv883574,nsv883608,nsv883609,nsv883575,nsv883567,nsv883600,nsv883576,nsv883566,nsv883599 M 6533 27 0 HLA-H MS10465,MS10756,MS11537,MS13169,MS13490,MS14848,MS16459,MS16792,MS16821,MS17056,MS18070,MS18406,MS18533,MS19340,MS19703,MS21928,MS22505,MS23165,MS23258,MS24995,MS25038,MS25190,MS25330,MS25331,MS25484,MS25683,MS25765 dgv6455n71 6 29955121 30007606 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883590,nsv883592,nsv883588,nsv883568 M 6533 17 114 HCG4B,HLA-H IS30066,IS30191,IS30197,IS31419,IS31576,IS32724,IS34185,IS34856,IS35007,IS35107,IS36219,IS37621,IS38271,IS38330,IS38337,IS40799,IS40944,IS40954,IS41224,IS41292,IS41634,IS41769,IS41771,IS41848,IS41933,IS41979,MS10228,MS10301,MS10737,MS10871,MS11022,MS11084,MS11352,MS11384,MS11467,MS11693,MS11733,MS11821,MS12138,MS12149,MS12154,MS12266,MS12561,MS12721,MS13168,MS13228,MS13232,MS13538,MS13918,MS14216,MS14396,MS14665,MS14752,MS15118,MS15175,MS15364,MS15427,MS16032,MS16898,MS17036,MS17359,MS17389,MS17438,MS17572,MS17611,MS17697,MS17705,MS17973,MS18554,MS18648,MS18742,MS18947,MS18948,MS19011,MS19159,MS19277,MS19414,MS19529,MS19634,MS19766,MS20047,MS20229,MS20725,MS20753,MS20813,MS21192,MS21194,MS21216,MS21252,MS21428,MS21738,MS21973,MS21992,MS22076,MS22224,MS22227,MS22322,MS22662,MS22770,MS22971,MS23105,MS23145,MS23531,MS23609,MS23981,MS24031,MS24285,MS24329,MS24393,MS24476,MS24503,MS24624,MS24868,MS24873,MS24897,MS24909,MS25172,MS25306,MS25338,MS25439,MS25519,MS25526,MS25544,MS25669,MS25750,MS26030,SP53251,SP56640,SP58208,SP58389,SP58536 nsv883572 6 29957666 29973697 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547478 S 6533 1 0 HLA-H MS17394 dgv6456n71 6 29957666 29976963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883573,nsv883594,nsv883571,nsv883570 M 6533 0 187 HLA-H IS30267,IS30270,IS30351,IS30506,IS30532,IS30667,IS30824,IS31722,IS33774,IS34473,IS34491,IS34804,IS35041,IS35099,IS35342,IS35802,IS35982,IS36287,IS36438,IS36901,IS37144,IS37683,IS37850,IS37963,IS37964,IS38058,IS38067,IS38212,IS38220,IS38226,IS38341,IS38593,IS39205,IS39527,IS39676,IS39714,IS39991,IS40588,IS40825,IS40886,IS41061,IS41576,MS10120,MS10350,MS10375,MS10378,MS10429,MS10443,MS10445,MS10645,MS11064,MS11135,MS11237,MS11497,MS11669,MS11722,MS11728,MS11753,MS11867,MS12212,MS12461,MS12545,MS12577,MS12606,MS12609,MS12648,MS12657,MS12719,MS13252,MS13286,MS13455,MS13561,MS14111,MS14266,MS14374,MS14451,MS14493,MS14513,MS14610,MS14636,MS14637,MS14717,MS14933,MS15014,MS15094,MS15097,MS15168,MS15600,MS15752,MS15871,MS16036,MS16048,MS16188,MS16213,MS16242,MS16325,MS16398,MS16423,MS16471,MS16722,MS16740,MS16746,MS16796,MS16801,MS16944,MS17017,MS17019,MS17450,MS17605,MS17637,MS17849,MS17879,MS18132,MS18153,MS18261,MS18325,MS18368,MS18377,MS18414,MS18465,MS18599,MS19599,MS19606,MS19669,MS19683,MS19777,MS19798,MS19923,MS19930,MS20857,MS21262,MS21558,MS21722,MS22601,MS22616,MS22998,MS23117,MS23194,MS23236,MS23295,MS23456,MS23460,MS23703,MS23709,MS23758,MS23949,MS24077,MS24266,MS24272,MS24328,MS24405,MS24479,MS24533,MS24620,MS24623,MS24747,MS24839,MS24886,MS24918,MS24951,MS24997,MS25181,MS25227,MS25303,MS25327,MS25486,MS25529,MS25564,MS25695,MS25699,MS25728,MS25864,MS25888,MS25902,MS25968,MS25983,MS26100,MS26123,MS26145,SP52328,SP52440,SP54108,SP54603,SP55312,SP57585,SP58343,SP81459 dgv6457n71 6 29957666 29988619 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883580,nsv883578 M 6533 3 21 HLA-H IS32395,IS32697,IS35824,MS12170,MS13230,MS13288,MS13867,MS14343,MS18387,MS18485,MS18510,MS20247,MS21090,MS21136,MS21924,MS22306,MS22854,MS24207,MS24219,MS25589,SP50177,SP54139,SP56750,SP57188 dgv6458n71 6 29957666 29994143 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883581,nsv883579,nsv883620,nsv883667,nsv883584,nsv883582,nsv883585,nsv883602,nsv883601,nsv883610,nsv883583,nsv883645,nsv883644,nsv883665 M 6533 26 0 HLA-H MS11032,MS11760,MS11765,MS12366,MS13205,MS14330,MS14658,MS14842,MS14940,MS15008,MS15199,MS15679,MS15952,MS16314,MS16621,MS16632,MS17097,MS18255,MS18376,MS18933,MS20468,MS22321,MS23697,MS24000,MS24423,MS25112 dgv6459n71 6 29957666 30007126 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883586,nsv883668,nsv883603,nsv883611,nsv883622,nsv883623,nsv883626,nsv883670,nsv883675,nsv883690,nsv883691,nsv883692,nsv883621 M 6533 24 0 HCG4B,HLA-H MS10184,MS12827,MS13294,MS13703,MS15191,MS15303,MS15312,MS15768,MS16724,MS16965,MS18748,MS19140,MS20627,MS21309,MS21840,MS22454,MS23079,MS23885,MS24101,MS24704,MS25014,MS25471,MS25842,MS26019 nsv883593 6 29957666 30021494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573048 S 6533 0 1 HCG4B,HLA-A,HLA-H IS33239 nsv511316 6 29958253 29983715 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625410 S 1 1 0 HLA-H 1 nsv499693 6 29959080 30013994 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585977 S 9 0 1 HCG4B,HLA-H esv2422126 6 29959422 29973697 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5048852,essv5112896,essv5135468,essv5082717,essv5039999,essv5091845,essv5016358,essv5060897,essv5047005,essv5014713,essv5028456,essv5044788,essv5119926,essv5123752,essv5122179,essv5134609,essv5078031,essv5117853,essv5012055,essv5017992,essv5158513,essv5077933,essv5012325,essv5069903,essv5148288,essv5131767,essv5072886,essv5102539,essv5106605,essv5138500,essv5147623,essv5158096,essv5087527,essv5111762,essv5012873,essv5005985,essv5007810,essv5024491,essv5102102,essv5008317,essv5013862,essv5095814,essv5064863,essv5078944,essv5065524,essv5137899,essv5011770,essv5159622,essv5069021,essv5045935,essv5088447,essv5104681,essv5109456,essv5070051,essv5075474,essv5055440,essv5056141,essv5096857,essv5058889,essv5095083,essv5129908,essv5109636,essv5087746,essv5141818,essv5110097,essv5063112,essv5085498,essv5081295,essv5020471,essv5075088,essv5103421,essv5126208,essv5064329,essv5143007,essv5012787,essv5097476,essv5053815,essv5132733,essv5073955,essv5088895,essv5071291,essv5005907,essv5152324,essv5104837,essv5009606,essv5098104,essv5131210,essv5036917,essv5152218,essv5151000,essv5054061,essv5071935,essv5155957,essv5012292,essv5058738,essv5003020,essv5029791,essv5151973,essv5088123,essv5027856,essv5013646,essv5029324,essv5026213,essv5130867,essv5103566,essv5075138,essv5120831,essv5051168,essv5019564,essv5065005,essv5061662,essv5146948,essv5157136,essv5158469,essv5002995,essv5158713,essv5064728,essv5024438,essv5038385,essv5100490,essv5128886,essv5030742,essv5028685,essv5037883,essv5158857,essv5088981,essv5050472,essv5025047,essv5061422,essv5158852,essv5138384,essv5153641,essv5098007,essv5114188,essv5067424,essv5014749,essv5092842,essv5132135,essv5097361,essv5080965,essv5025852,essv5056419,essv5015087,essv5144129,essv5120117,essv5159995,essv5060312,essv5122516,essv5010829,essv5105338,essv5062714,essv5140954,essv5136366,essv5062546,essv5042725,essv5110310,essv5066611,essv5031657,essv5122700,essv5139898,essv5075780,essv5081154,essv5120612,essv5121618,essv5026628,essv5087148,essv5149678,essv5139380,essv5131153,essv5066480,essv5043797,essv5078819,essv5059327,essv5117998,essv5143803,essv5078513,essv5159687,essv5142009,essv5114735,essv5020779,essv5033002,essv5020998,essv5036786,essv5109207,essv5038546,essv5119597,essv5088840,essv5006736,essv5156544,essv5016858,essv5159936,essv5111195,essv5068137,essv5037025,essv5143868,essv5070126,essv5130176,essv5081896,essv5068016,essv5083718,essv5015147,essv5089745,essv5086398,essv5117538,essv5126873,essv5048576,essv5008650,essv5148614,essv5026281,essv5144031,essv5064641,essv5007554,essv5154190,essv5094389,essv5060889,essv5124703,essv5122757,essv5143336,essv5040557,essv5031904,essv5109427,essv5072025,essv5056612,essv5013594,essv5072021,essv5069645,essv5150475,essv5047272,essv5087996,essv5054973,essv5114760,essv5097148,essv5103895,essv5061260,essv5090110,essv5138982,essv5031084,essv5078674,essv5027824,essv5080657,essv5050883,essv5015930,essv5143468,essv5067445,essv5059313,essv5098340,essv5087385,essv5109080,essv5031507,essv5151579,essv5155178,essv5035240,essv5030709,essv5006055,essv5060770,essv5121502,essv5129428,essv5095887,essv5088510,essv5071282,essv5050034,essv5106639,essv5144164,essv5046842,essv5159458,essv5105915,essv5094105,essv5035825,essv5042556,essv5124759,essv5112278,essv5139373,essv5052096,essv5091131,essv5005221,essv5103353,essv5023638,essv5148233,essv5108445,essv5115662,essv5151368,essv5004911,essv5054104,essv5004670,essv5069236,essv5031202,essv5034700,essv5116472,essv5055583,essv5119168,essv5031714,essv5026194,essv5107546,essv5062210,essv5004412,essv5128138,essv5145689,essv5039111,essv5049660,essv5144999,essv5029538,essv5115653,essv5091749,essv5009396,essv5022896,essv5022118,essv5144811,essv5105961,essv5108082,essv5087208,essv5098661,essv5096206,essv5138507,essv5120513,essv5023691,essv5104288,essv5151523,essv5033638 M 1184 0 318 HLA-H NA07348,NA07357,NA07435,NA10835,NA10836,NA10840,NA10845,NA10864,NA11892,NA11894,NA11930,NA12056,NA12248,NA12275,NA12286,NA12347,NA12376,NA12489,NA12546,NA12752,NA12760,NA12761,NA12767,NA12777,NA12802,NA12813,NA12815,NA12817,NA12818,NA12828,NA12829,NA12864,NA12865,NA12873,NA12874,NA12875,NA12891,NA17965,NA17966,NA17968,NA17976,NA17982,NA17987,NA17988,NA17989,NA17993,NA17995,NA18106,NA18108,NA18112,NA18118,NA18120,NA18125,NA18128,NA18133,NA18134,NA18141,NA18146,NA18149,NA18151,NA18156,NA18158,NA18162,NA18485,NA18487,NA18506,NA18507,NA18536,NA18545,NA18558,NA18561,NA18571,NA18572,NA18582,NA18592,NA18593,NA18596,NA18597,NA18599,NA18602,NA18608,NA18613,NA18616,NA18618,NA18621,NA18622,NA18623,NA18627,NA18634,NA18636,NA18638,NA18639,NA18641,NA18643,NA18745,NA18757,NA18855,NA18863,NA18874,NA18875,NA18909,NA18916,NA18923,NA18924,NA18930,NA18940,NA18942,NA18944,NA18946,NA18947,NA18949,NA18951,NA18952,NA18954,NA18955,NA18957,NA18960,NA18961,NA18962,NA18967,NA18969,NA18970,NA18971,NA18972,NA18973,NA18977,NA18979,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19009,NA19010,NA19055,NA19056,NA19058,NA19059,NA19062,NA19063,NA19064,NA19066,NA19067,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19081,NA19085,NA19086,NA19088,NA19093,NA19094,NA19099,NA19116,NA19118,NA19119,NA19120,NA19128,NA19129,NA19138,NA19139,NA19143,NA19149,NA19159,NA19171,NA19173,NA19175,NA19178,NA19180,NA19182,NA19183,NA19184,NA19198,NA19202,NA19224,NA19225,NA19226,NA19313,NA19317,NA19324,NA19327,NA19346,NA19352,NA19403,NA19456,NA19457,NA19625,NA19649,NA19650,NA19656,NA19660,NA19661,NA19663,NA19664,NA19665,NA19678,NA19680,NA19685,NA19701,NA19749,NA19751,NA19759,NA19760,NA19761,NA19763,NA19773,NA19775,NA19776,NA19789,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19915,NA20277,NA20281,NA20282,NA20287,NA20292,NA20295,NA20297,NA20301,NA20302,NA20343,NA20345,NA20350,NA20357,NA20358,NA20364,NA20508,NA20510,NA20512,NA20517,NA20521,NA20522,NA20524,NA20528,NA20535,NA20540,NA20581,NA20582,NA20752,NA20755,NA20756,NA20758,NA20760,NA20765,NA20766,NA20774,NA20792,NA20795,NA20805,NA20813,NA20826,NA20849,NA20859,NA20866,NA20872,NA20874,NA20875,NA20876,NA20887,NA20892,NA20895,NA20902,NA20903,NA20906,NA21086,NA21091,NA21103,NA21109,NA21116,NA21117,NA21141,NA21142,NA21301,NA21316,NA21317,NA21344,NA21355,NA21356,NA21366,NA21368,NA21378,NA21390,NA21414,NA21417,NA21420,NA21434,NA21436,NA21438,NA21439,NA21448,NA21453,NA21455,NA21493,NA21494,NA21512,NA21513,NA21524,NA21526,NA21528,NA21587,NA21597,NA21682,NA21693,NA21716,NA21718,NA21776 dgv7e195 6 29959422 30007472 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array esv2421782,esv2421903 M 1184 0 325 HCG4B,HLA-H NA07348,NA07357,NA07435,NA10835,NA10836,NA10840,NA10845,NA10864,NA11892,NA11894,NA11930,NA12056,NA12248,NA12275,NA12286,NA12347,NA12376,NA12489,NA12546,NA12752,NA12760,NA12761,NA12767,NA12777,NA12802,NA12813,NA12815,NA12817,NA12818,NA12828,NA12829,NA12864,NA12865,NA12873,NA12874,NA12875,NA12891,NA17965,NA17966,NA17968,NA17976,NA17982,NA17987,NA17988,NA17989,NA17993,NA17995,NA18106,NA18108,NA18112,NA18118,NA18120,NA18125,NA18128,NA18133,NA18134,NA18141,NA18146,NA18149,NA18151,NA18156,NA18158,NA18162,NA18485,NA18487,NA18506,NA18507,NA18526,NA18536,NA18545,NA18558,NA18561,NA18571,NA18572,NA18582,NA18592,NA18593,NA18596,NA18597,NA18599,NA18602,NA18608,NA18610,NA18613,NA18616,NA18618,NA18621,NA18622,NA18623,NA18627,NA18634,NA18636,NA18638,NA18639,NA18641,NA18643,NA18745,NA18757,NA18855,NA18862,NA18863,NA18874,NA18875,NA18909,NA18916,NA18923,NA18924,NA18930,NA18940,NA18942,NA18944,NA18946,NA18947,NA18949,NA18951,NA18952,NA18954,NA18955,NA18957,NA18959,NA18960,NA18961,NA18962,NA18967,NA18969,NA18970,NA18971,NA18972,NA18973,NA18977,NA18979,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19009,NA19010,NA19055,NA19056,NA19058,NA19059,NA19062,NA19063,NA19064,NA19066,NA19067,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19081,NA19085,NA19086,NA19088,NA19093,NA19094,NA19099,NA19116,NA19118,NA19119,NA19120,NA19128,NA19129,NA19138,NA19139,NA19143,NA19149,NA19159,NA19171,NA19173,NA19175,NA19178,NA19180,NA19182,NA19183,NA19184,NA19198,NA19200,NA19202,NA19224,NA19225,NA19226,NA19313,NA19317,NA19324,NA19327,NA19346,NA19352,NA19403,NA19456,NA19457,NA19471,NA19625,NA19649,NA19650,NA19656,NA19660,NA19661,NA19663,NA19664,NA19665,NA19678,NA19680,NA19685,NA19701,NA19749,NA19751,NA19759,NA19760,NA19761,NA19763,NA19773,NA19775,NA19776,NA19789,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19915,NA20277,NA20281,NA20282,NA20287,NA20292,NA20295,NA20297,NA20301,NA20302,NA20343,NA20345,NA20350,NA20357,NA20358,NA20364,NA20508,NA20510,NA20512,NA20517,NA20521,NA20522,NA20524,NA20528,NA20535,NA20540,NA20581,NA20582,NA20752,NA20755,NA20756,NA20758,NA20760,NA20765,NA20766,NA20774,NA20792,NA20795,NA20805,NA20813,NA20826,NA20849,NA20859,NA20866,NA20872,NA20874,NA20875,NA20876,NA20887,NA20892,NA20895,NA20902,NA20903,NA20906,NA21086,NA21091,NA21103,NA21109,NA21116,NA21117,NA21141,NA21142,NA21301,NA21316,NA21317,NA21344,NA21355,NA21356,NA21366,NA21368,NA21378,NA21385,NA21390,NA21414,NA21417,NA21420,NA21434,NA21436,NA21438,NA21439,NA21448,NA21453,NA21455,NA21493,NA21494,NA21512,NA21513,NA21524,NA21526,NA21528,NA21587,NA21597,NA21682,NA21693,NA21716,NA21718,NA21776 esv3124 6 29960311 30006220 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25565 S 1 0 1 Single Asian sample YH HCG4B,HLA-H YH nsv883605 6 29961934 29967496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518256,nssv1516098,nssv1512045,nssv1509189,nssv1516157 M 6533 0 5 HLA-H SP54761,SP55265,SP56457,SP56505,SP57481 dgv6460n71 6 29961934 29973697 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883606,nsv883613 M 6533 12 0 HLA-H IS38367,IS39457,MS15103,MS17193,MS17216,MS17869,MS23109,MS25058,MS25184,MS25244,MS25579,MS25588 dgv6461n71 6 29961934 29976963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883607,nsv883614 M 6533 0 2 HLA-H MS19341,SP53719 dgv6462n71 6 29961934 30020148 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883777,nsv883612,nsv883628,nsv883649,nsv883677,nsv883731,nsv883730 M 6533 7 0 HCG4B,HLA-A,HLA-H MS10802,MS16347,MS17730,MS21214,MS24600,MS25241,MS25304 nsv433378 6 29962187 29981657 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463259 S 9 1 0 Samples from several populations that are part of the HapMap project. HLA-H NA19240 nsv823470 6 29962649 30010434 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438171,nssv1432892,nssv1425794,nssv1429082 M 31 0 4 HCG4B,HLA-H AK12,AK4,NA18951,NA18972 dgv6463n71 6 29963685 29982364 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883616,nsv883653,nsv883655 M 6533 12 14 HLA-H IS32737,MS10227,MS10698,MS10739,MS14368,MS14947,MS16248,MS16355,MS16376,MS17421,MS18276,MS18979,MS20302,MS23098,MS25042,MS25769,SP51353,SP52234,SP53969,SP54043,SP55670,SP56878,SP81003,SP81009,SP81146,SP81259 dgv6464n71 6 29963685 29984419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883615,nsv883657,nsv883638,nsv883636,nsv883656 M 6533 0 8 HLA-H IS31283,IS38232,IS39325,MS10510,MS15838,MS25725,SP54776,SP58047 dgv6465n71 6 29963685 29989443 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883642,nsv883698,nsv883663,nsv883619,nsv883662,nsv883640,nsv883639,nsv883641,nsv883658,nsv883617 M 6533 13 0 HLA-H IS31703,MS14450,MS15218,MS15628,MS16039,MS16259,MS16268,MS18251,MS19002,MS20196,MS20334,MS20510,MS24877 dgv6466n71 6 29963685 29992625 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883683,nsv883701,nsv883699,nsv883719,nsv883618,nsv883681,nsv883631,nsv883708,nsv883689,nsv883643,nsv883660,nsv883682,nsv883700 M 6533 0 37 HLA-H IS32723,IS33547,IS35148,IS35222,IS35670,IS35903,IS36077,IS36689,IS37471,IS38246,IS38995,IS40685,IS41839,MS11326,MS11675,MS13206,MS16158,MS17534,MS18784,MS21841,MS23916,MS24498,MS24872,MS24970,MS25703,MS25731,SP52094,SP52432,SP54620,SP55265,SP55573,SP55624,SP56419,SP56457,SP56543,SP56840,SP57671 dgv6467n71 6 29963685 30007606 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883676,nsv883625,nsv883725,nsv883669,nsv883684,nsv883671,nsv883674,nsv883729 M 6533 28 24 HCG4B,HLA-H IS32777,IS32810,IS32841,IS32925,IS33040,IS33070,IS33192,IS33221,IS33304,IS34458,IS35390,IS36450,IS37098,IS38031,IS38294,IS38430,IS40188,IS40475,IS41273,MS10098,MS10280,MS10735,MS11171,MS12597,MS13498,MS14313,MS15554,MS15573,MS16362,MS17235,MS17508,MS18104,MS18352,MS19143,MS19365,MS19533,MS19584,MS21036,MS21195,MS21460,MS21677,MS23472,MS24769,MS24864,MS24971,MS25216,MS25653,MS25674,SP51145,SP56380,SP57401,SP81513 dgv6468n71 6 29963685 30007606 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883756,nsv883709,nsv883727,nsv883633,nsv883728,nsv883624,nsv883648,nsv883647,nsv883673,nsv883687,nsv883686,nsv883685,nsv883705,nsv883672,nsv883704,nsv883751,nsv883703,nsv883627,nsv883724,nsv883726 M 6533 0 52 HCG4B,HLA-H IS30307,IS30352,IS31228,IS31909,IS32633,IS32661,IS34356,IS37238,IS38168,IS38198,IS38304,IS38342,IS38617,IS40234,IS40342,IS40752,IS40928,IS41857,IS41992,MS10843,MS11020,MS11337,MS12868,MS13195,MS13932,MS14305,MS16986,MS18466,MS22177,MS22798,MS23626,MS23724,MS24471,MS25177,SP50117,SP50559,SP50877,SP50943,SP51115,SP51427,SP51457,SP52349,SP52835,SP53583,SP54622,SP54768,SP55986,SP57278,SP57481,SP57651,SP81019,SP81556 dgv6469n71 6 29964282 29973697 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883634,nsv883678,nsv883629,nsv883630 M 6533 0 8 HLA-H SP51147,SP52475,SP53402,SP54621,SP54761,SP54979,SP56152,SP57599 dgv6470n71 6 29964282 30000415 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883721,nsv883723,nsv883632,nsv883646,nsv883702,nsv883722 M 6533 0 11 HCG4B,HLA-H IS32666,IS32770,IS34630,IS34697,IS35190,IS36825,IS37428,IS38475,IS40573,IS41877,SP55345 dgv6471n71 6 29965065 29978470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883650,nsv883679,nsv883635,nsv883651,nsv883680,nsv883694 M 6533 0 14 HLA-H IS34057,MS10164,MS10825,MS11746,MS13771,MS17820,MS18247,MS19438,MS23725,MS24239,MS25357,SP53987,SP54295,SP54942 dgv6472n71 6 29965065 29981029 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883637,nsv883652,nsv883654 M 6533 5 0 HLA-H MS10169,MS10946,MS12262,MS22499,MS24225 dgv6473n71 6 29965944 29988619 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883659,nsv883661 M 6533 6 24 HLA-H IS32803,IS33248,IS34748,IS35162,IS35422,IS37753,IS37825,IS38176,IS38252,IS38384,IS39940,IS41869,MS11137,MS13211,MS13362,MS15041,MS24762,MS26110,SP51391,SP52147,SP52439,SP52656,SP54049,SP55321,SP56107,SP56125,SP56887,SP56906,SP58166,SP81453 dgv6474n71 6 29965944 29994143 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883720,nsv883762,nsv883743,nsv883764,nsv883765,nsv883744,nsv883666,nsv883664,nsv883745 M 6533 44 14 HLA-H IS30590,IS31359,IS33023,IS33749,IS34807,IS34809,IS35127,IS35545,IS37069,IS40129,IS40687,IS41034,IS41871,MS10115,MS10204,MS10591,MS10764,MS10897,MS12206,MS12497,MS13358,MS13401,MS13694,MS13774,MS13872,MS14264,MS14769,MS15090,MS15479,MS15907,MS16011,MS16070,MS16677,MS16851,MS17091,MS17449,MS17502,MS17970,MS18195,MS18552,MS18830,MS18940,MS19486,MS19517,MS19736,MS20854,MS21178,MS21732,MS21780,MS22251,MS23227,MS24783,MS25498,MS25603,MS25884,SP53259,SP81438,SP81512 esv6014 6 29966046 30021054 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28455 S 1 0 1 HCG4B,HLA-A,HLA-H SJK dgv1913e1 6 29967224 29985664 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2763,essv1553,essv3265,essv18815,essv20727,essv24462,essv726,essv3915,essv2953 M 271 0 0 "" NA12248,NA12752,NA12865,NA18940,NA18960,NA18967,NA18972,NA19000,NA19012 dgv1914e1 6 29967224 30026432 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2424,essv11055,essv6487,essv19815,essv8884,essv23748,essv18777 M 271 0 0 HCG4B,HLA-A NA11994,NA12864,NA12891,NA18636,NA18951,NA19138,NA19171 essv1660 6 29967224 30045368 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. HCG4B,HLA-A NA18961 dgv6475n71 6 29967496 29976963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883688,nsv883693,nsv883706 M 6533 0 4 "" MS20671,SP50107,SP51069,SP57779 dgv740n27 6 29967496 29994143 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462712,nsv462703,nsv462715,nsv462704,nsv462677,nsv462700,nsv462708,nsv462725,nsv462714,nsv462685,nsv462730,nsv462701,nsv462729,nsv462678,nsv462686,nsv462691,nsv462706,nsv462698,nsv462710,nsv462702,nsv462718,nsv462713,nsv462676,nsv462724,nsv462687,nsv462679,nsv462722,nsv462680,nsv462696,nsv462695,nsv462721,nsv462731,nsv462684,nsv462720,nsv462692,nsv462682,nsv462711,nsv462732,nsv462719,nsv462690,nsv462709,nsv462699,nsv462689,nsv462726,nsv462688,nsv462697,nsv462717,nsv462707,nsv462693,nsv462723,nsv462681 M 1557 0 51 "" 1780854573_A,1780862384_A,1780862590_A,HGDP00003,HGDP00035,HGDP00094,HGDP00189,HGDP00234,HGDP00491,HGDP00540,HGDP00546,HGDP00547,HGDP00548,HGDP00556,HGDP00561,HGDP00574,HGDP00581,HGDP00606,HGDP00634,HGDP00655,HGDP00656,HGDP00662,HGDP00663,HGDP00680,HGDP00747,HGDP00750,HGDP00760,HGDP00772,HGDP00787,HGDP00806,HGDP00818,HGDP00837,HGDP00845,HGDP00868,HGDP00903,HGDP00954,HGDP01015,HGDP01027,HGDP01099,HGDP01181,HGDP01182,HGDP01203,HGDP01205,HGDP01206,HGDP01208,HGDP01211,HGDP01228,HGDP01239,HGDP01250,HGDP01255,HGDP01263 nsv516434 6 29967496 29994143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661549,nssv675422,nssv682546,nssv668336,nssv688848,nssv654891,nssv657262,nssv679326,nssv663549,nssv654431,nssv681232,nssv694023,nssv680779,nssv675131,nssv686054,nssv688374,nssv657173,nssv659135,nssv659373,nssv690050,nssv654550 M 2026 0 21 "" nsv462733 6 29967496 30045812 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538828 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HCG4B,HLA-A HGDP00550 dgv6476n71 6 29967687 29981555 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883711,nsv883715,nsv883696,nsv883695,nsv883707,nsv883697 M 6533 0 12 "" IS36550,SP50035,SP52035,SP54299,SP55264,SP55511,SP56152,SP56271,SP56505,SP56549,SP56832,SP57226 dgv6477n71 6 29969450 29981029 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883713,nsv883714,nsv883710,nsv883716 M 6533 27 0 "" MS10702,MS10784,MS11119,MS11241,MS11755,MS12018,MS12506,MS13373,MS13800,MS14500,MS14907,MS16283,MS16607,MS17599,MS18011,MS18149,MS18226,MS19372,MS21117,MS21225,MS22212,MS23054,MS23798,MS24357,MS24662,MS24837,SP52338 dgv6478n71 6 29969450 29988619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883718,nsv883753,nsv883740,nsv883712,nsv883739,nsv883754 M 6533 0 23 "" IS38030,IS38267,IS38268,IS38313,IS39961,IS41868,SP50084,SP50109,SP50623,SP51293,SP52082,SP52500,SP52531,SP53776,SP54127,SP55041,SP55102,SP55212,SP55937,SP55970,SP56089,SP56518,SP57193 nsv883717 6 29969546 29982364 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562912,nssv1540099,nssv1557026,nssv1590835,nssv1561387,nssv1535443,nssv1562686,nssv1535058,nssv1535919,nssv1563654,nssv1592054,nssv1529741,nssv1533256,nssv1547396,nssv1539836,nssv1532801,nssv1535390,nssv1539558,nssv1563215,nssv1538234,nssv1545876,nssv1531606,nssv1549270,nssv1525689,nssv1594053,nssv1529655,nssv1531453,nssv1536741,nssv1530070,nssv1565686,nssv1538540,nssv1540748,nssv1544522,nssv1561225,nssv1561943,nssv1562385,nssv1559329,nssv1544146,nssv1584203,nssv1560133 M 6533 10 30 "" IS30506,IS36901,IS38593,IS39205,IS39676,MS10102,MS10120,MS10187,MS10445,MS10567,MS10867,MS11064,MS11993,MS12196,MS12211,MS12545,MS12943,MS13548,MS13759,MS14361,MS14518,MS14684,MS15014,MS16271,MS16368,MS17017,MS17363,MS18159,MS22337,MS23878,MS24337,MS24886,MS24969,MS25303,MS25553,MS25699,MS25771,MS25902,MS26145,SP56773 dgv6479n71 6 29972182 29984419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883734,nsv883736,nsv883752,nsv883733,nsv883735,nsv883732 M 6533 0 6 "" IS41172,MS15167,SP53368,SP54617,SP54999,SP57485 dgv6480n71 6 29972294 29985843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883758,nsv883737 M 6533 2 0 "" MS10999,MS11243 dgv6481n71 6 29972294 29989017 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883738,nsv883786,nsv883742,nsv883741,nsv883761,nsv883759,nsv883760 M 6533 14 94 "" IS30098,IS30213,IS31346,IS31765,IS32704,IS32744,IS32787,IS33030,IS33351,IS33627,IS34422,IS34434,IS34491,IS34612,IS35141,IS35176,IS35519,IS35691,IS35802,IS35940,IS36258,IS36383,IS36594,IS36887,IS37139,IS37498,IS37738,IS37778,IS37853,IS37964,IS38240,IS38298,IS38348,IS38351,IS38356,IS38446,IS38501,IS38602,IS39116,IS39335,IS39361,IS39517,IS39646,IS40050,IS40205,IS40280,IS40307,IS40343,IS40491,IS40557,IS40676,IS40802,IS40817,IS40823,IS40825,IS40886,IS41025,IS41758,MS10074,MS10174,MS10324,MS10350,MS10686,MS10825,MS11135,MS11389,MS11722,MS12509,MS13916,MS14522,MS14872,MS14986,MS15050,MS15097,MS15871,MS16124,MS16213,MS17221,MS18132,MS18217,MS19698,MS19886,MS20269,MS23236,MS23332,MS24328,MS24701,MS24939,MS25627,MS25864,MS25888,SP50646,SP52292,SP52456,SP53131,SP53399,SP53725,SP54226,SP56260,SP56733,SP56957,SP57137,SP57875,SP58053,SP58343,SP58480,SP80967,SP81088 nsv883746 6 29972294 29994143 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561895,nssv1540005 M 6533 2 0 "" MS14644,MS25284 dgv6482n71 6 29972294 30005175 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883771,nsv883789,nsv883772,nsv883799,nsv883775,nsv883782,nsv883781,nsv883780,nsv883773,nsv883791,nsv883766,nsv883768,nsv883796,nsv883797,nsv883790,nsv883748,nsv883747,nsv883750,nsv883755 M 6533 0 70 HCG4B IS33774,IS33887,IS34358,IS34382,IS34775,IS34825,IS35312,IS35675,IS36312,IS38069,IS38274,IS38419,IS38457,IS38616,IS39656,MS10378,MS10429,MS11494,MS11728,MS12577,MS12648,MS13286,MS14374,MS14451,MS14493,MS15715,MS16252,MS16423,MS16722,MS16944,MS17484,MS17849,MS18108,MS19798,MS19923,MS22601,MS22998,MS23295,MS23460,MS23758,MS24533,MS25052,SP50017,SP50120,SP50535,SP52081,SP52137,SP53444,SP53516,SP54373,SP54389,SP54395,SP54399,SP54405,SP54509,SP54551,SP54556,SP54561,SP55565,SP55630,SP55647,SP56004,SP56120,SP56143,SP56154,SP57022,SP57061,SP57443,SP57449,SP57482 dgv6483n71 6 29972294 30007606 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883823,nsv883767,nsv883819,nsv883749,nsv883774,nsv883769,nsv883776,nsv883807,nsv883770,nsv883825 M 6533 39 114 HCG4B IS30081,IS30127,IS30270,IS30311,IS30322,IS30336,IS30435,IS30667,IS31257,IS31722,IS32717,IS32719,IS32992,IS33175,IS33208,IS33393,IS33665,IS33696,IS33712,IS33948,IS34083,IS34108,IS34218,IS34473,IS34562,IS34572,IS34804,IS34909,IS35041,IS35179,IS35347,IS35447,IS35633,IS35982,IS36287,IS36475,IS36517,IS36854,IS37348,IS37435,IS37450,IS37683,IS37874,IS38006,IS38052,IS38226,IS38350,IS38491,IS39394,IS39999,IS40004,IS40145,IS40186,IS40192,IS40239,IS40241,IS40347,IS40627,IS40728,IS40737,IS40834,IS41456,IS41576,IS41768,IS41803,IS41838,IS41921,IS41983,MS10065,MS10226,MS10330,MS10549,MS10896,MS10973,MS11159,MS11468,MS11746,MS11750,MS11753,MS12606,MS12972,MS13179,MS13207,MS13408,MS13469,MS14266,MS14323,MS14385,MS14696,MS14717,MS14818,MS14828,MS15511,MS15596,MS15984,MS16048,MS16095,MS16128,MS16168,MS16242,MS16315,MS16325,MS17120,MS17193,MS17751,MS17869,MS17879,MS17915,MS18422,MS18896,MS20681,MS21294,MS21522,MS21637,MS21722,MS22600,MS22616,MS23109,MS23532,MS23770,MS23811,MS23949,MS24083,MS24100,MS24280,MS24623,MS24867,MS24951,MS25184,MS25227,MS25357,MS25529,MS26100,SP50622,SP50672,SP50754,SP52986,SP53303,SP54857,SP54905,SP55134,SP55494,SP56787,SP56903,SP56936,SP57205,SP58068,SP58377,SP80960,SP81105,SP81158,SP81454,SP81504 nsv883757 6 29973697 29984419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578107 S 6533 0 1 "" IS34680 dgv6484n71 6 29973697 29994143 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883815,nsv883788,nsv883763,nsv883787,nsv883794,nsv883795,nsv883813,nsv883805,nsv883812 M 6533 12 0 "" IS35083,MS10105,MS10729,MS11934,MS12638,MS13050,MS13379,MS14256,MS15286,MS17223,MS25579,MS25831 dgv6485n71 6 29976032 29988619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883778,nsv883779 M 6533 0 10 "" IS36536,IS37915,IS39527,MS13252,MS14318,MS17113,MS18568,MS18848,MS24272,SP52224 dgv6486n71 6 29976043 29989223 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883784,nsv883785,nsv883792,nsv883793,nsv883802,nsv883783 M 6533 10 0 "" IS30325,IS38219,MS12734,MS12863,MS16580,MS17986,MS18756,MS19858,MS22968,MS25394 dgv6487n71 6 29976430 30007126 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883827,nsv883801,nsv883806,nsv883798,nsv883808,nsv883800 M 6533 7 0 HCG4B MS10400,MS10816,MS11694,MS13336,MS14601,MS17394,MS22653 dgv6488n71 6 29976963 29996478 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883849,nsv883834,nsv883804,nsv883851,nsv883835,nsv883852,nsv883814,nsv883843,nsv883803,nsv883850 M 6533 0 15 "" IS31117,IS34059,IS34397,IS34632,IS35253,IS36320,IS37776,IS37789,IS38119,IS38336,IS38496,IS40299,SP54477,SP54552,SP55055 dgv6489n71 6 29978470 29988619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883833,nsv883832,nsv883809,nsv883811,nsv883810 M 6533 0 148 "" IS30267,IS30351,IS34687,IS35099,IS35342,IS37963,IS38058,IS38212,IS38220,IS39009,IS39783,IS39991,IS40345,IS40588,IS40730,IS40738,IS41061,MS10061,MS10183,MS10375,MS10413,MS10433,MS10645,MS10682,MS10994,MS11015,MS11497,MS11641,MS11741,MS11791,MS12261,MS12461,MS12609,MS12688,MS12719,MS12946,MS13040,MS13058,MS13491,MS13771,MS14260,MS14289,MS14384,MS14513,MS14636,MS14637,MS14755,MS14933,MS15060,MS15242,MS15307,MS15385,MS15600,MS15752,MS15771,MS15838,MS15973,MS16188,MS16471,MS16611,MS16740,MS16752,MS16774,MS16796,MS16801,MS16926,MS17019,MS17380,MS17385,MS17618,MS17820,MS18153,MS18247,MS18261,MS18325,MS18348,MS18368,MS18377,MS18465,MS18665,MS18722,MS18922,MS19341,MS19345,MS19438,MS19599,MS19606,MS19638,MS19683,MS20588,MS21218,MS21803,MS21986,MS22154,MS22207,MS22453,MS22764,MS23117,MS23542,MS23701,MS23703,MS23709,MS23725,MS23957,MS24052,MS24077,MS24245,MS24266,MS24274,MS24405,MS24479,MS24483,MS24517,MS24584,MS24620,MS24738,MS24747,MS24833,MS24839,MS24919,MS24997,MS25101,MS25181,MS25327,MS25486,MS25564,MS25675,MS25725,MS25728,MS25756,MS25813,MS26118,MS26123,SP51147,SP51243,SP52328,SP52440,SP54108,SP54456,SP54761,SP54979,SP55267,SP56400,SP56505,SP57585,SP58047,SP81397,SP81459 dgv6490n71 6 29978470 29999029 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883853,nsv883872,nsv883817,nsv883816 M 6533 9 38 "" IS30196,IS30204,IS30316,IS33073,IS33487,IS33724,IS34750,IS35015,IS35219,IS36241,IS36581,IS36678,IS37404,IS37591,IS37850,IS38008,IS38054,IS38067,IS38137,IS38395,IS38522,IS38994,IS39095,IS40349,IS40616,IS40660,IS41284,IS41424,MS13154,MS13500,MS14111,MS14947,MS15545,MS15737,MS17164,MS23487,MS24021,MS24121,SP51061,SP52303,SP52331,SP54652,SP55028,SP55075,SP55167,SP55537,SP58443 dgv6491n71 6 29978470 30007656 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883822,nsv883826,nsv883824,nsv883830,nsv883828,nsv883861,nsv883842,nsv883821,nsv883820,nsv883829,nsv883818 M 6533 0 42 HCG4B IS33590,IS34020,IS38391,IS40851,MS15168,MS15243,MS16398,MS19637,MS19930,MS25695,SP50119,SP50128,SP50129,SP50528,SP50829,SP50904,SP50963,SP51022,SP51118,SP52114,SP52299,SP52409,SP52700,SP52858,SP53402,SP54408,SP54673,SP54720,SP55312,SP55671,SP55808,SP56013,SP56104,SP56128,SP57329,SP57408,SP57410,SP57507,SP57860,SP58373,SP80970,SP81039 dgv6492n71 6 29978470 30025418 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883831,nsv883910,nsv883909,nsv883913 M 6533 4 0 HCG4B,HLA-A MS10227,MS17216,MS18436,MS25814 dgv212e55 6 29979600 30023972 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752114,esv34953,esv34267,esv34660,esv34897 M 771 0 5 HCG4B,HLA-A BEC_603,NA12865,NA18940,NA18967,NA19000 dgv6493n71 6 29980430 30005175 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883839,nsv883837,nsv883836,nsv883841,nsv883857,nsv883854,nsv883864,nsv883877,nsv883876,nsv883862,nsv883856,nsv883838,nsv883874,nsv883844,nsv883865,nsv883840,nsv883859,nsv883860,nsv883878 M 6533 0 87 HCG4B IS30160,IS30409,IS30473,IS30506,IS30532,IS30824,IS30934,IS32517,IS32775,IS33632,IS33669,IS34312,IS35165,IS35245,IS37144,IS37577,IS38341,IS38593,IS38840,IS39509,IS39676,IS39714,IS39785,IS41842,MS10443,MS10445,MS10714,MS11237,MS11669,MS11867,MS12196,MS12212,MS12545,MS12657,MS13045,MS13455,MS13561,MS14610,MS15094,MS16036,MS16385,MS16746,MS16981,MS17450,MS17605,MS18414,MS18599,MS19669,MS19777,MS20008,MS20857,MS21262,MS21558,MS23194,MS23456,MS24239,MS24886,MS24918,MS25139,MS25303,MS25402,MS25432,MS25968,MS25983,SP50179,SP50571,SP50633,SP50850,SP50855,SP51049,SP51411,SP52017,SP52139,SP52313,SP52431,SP52568,SP53048,SP53719,SP55110,SP56152,SP56342,SP56789,SP57328,SP57599,SP80988,SP81010,SP81108 dgv6494n71 6 29980521 30001019 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883866,nsv883845,nsv883883,nsv883892,nsv883884,nsv883873,nsv883871 M 6533 12 0 HCG4B MS10499,MS10709,MS12109,MS12837,MS15103,MS15972,MS18124,MS19340,MS22645,MS23163,MS24350,MS24374 dgv6495n71 6 29980521 30007606 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883848,nsv883880,nsv883905,nsv883879,nsv883906,nsv883895,nsv883894,nsv883907,nsv883908,nsv883885,nsv883898,nsv883846,nsv883887,nsv883888,nsv883886,nsv883889,nsv883847 M 6533 59 0 HCG4B MS10356,MS10361,MS10391,MS10702,MS10728,MS10848,MS10942,MS11218,MS11252,MS11300,MS12234,MS13241,MS14316,MS14324,MS14653,MS14679,MS14724,MS15709,MS15873,MS15905,MS16078,MS16122,MS16419,MS16455,MS16506,MS16531,MS16656,MS17085,MS17121,MS17306,MS17373,MS17489,MS17680,MS17703,MS18248,MS18333,MS18588,MS18752,MS18803,MS19571,MS19700,MS20878,MS22970,MS23174,MS23212,MS23301,MS23973,MS24357,MS24662,MS24790,MS24968,MS24969,MS25058,MS25244,MS25889,MS25901,MS25943,MS25946,MS25966 dgv6496n71 6 29981029 30004400 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883897,nsv883858,nsv883875,nsv883893,nsv883903,nsv883855,nsv883867,nsv883863 M 6533 54 41 HCG4B IS30238,IS30835,IS32664,IS33406,IS33493,IS33888,IS33959,IS34686,IS35294,IS35582,IS38388,IS38416,IS38515,IS38671,IS40310,IS40433,IS40956,IS41648,IS41664,MS10352,MS10590,MS10638,MS10947,MS11199,MS11355,MS11550,MS11556,MS12572,MS12602,MS12758,MS12859,MS13148,MS13363,MS13384,MS14454,MS14500,MS14804,MS14837,MS15359,MS15397,MS16266,MS16459,MS16607,MS16699,MS16707,MS16852,MS16934,MS17043,MS17335,MS17739,MS18116,MS18159,MS18190,MS18278,MS18480,MS18837,MS18970,MS18979,MS19703,MS20170,MS21442,MS21483,MS22268,MS23077,MS24337,MS24461,MS24705,MS25039,MS25087,MS25121,MS25308,MS25588,MS25774,MS25903,MS25940,SP50586,SP50749,SP50805,SP53252,SP54134,SP54846,SP55304,SP55405,SP55463,SP55473,SP55513,SP56377,SP56580,SP56986,SP57138,SP57679,SP57891,SP57958,SP81040,SP81363 esv1027028 6 29981443 29981443 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837817 S 2 1 0 "" HuRef nsv515032 6 29981912 29998048 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627035 S 1414 0 0 "" nsv883869 6 29982594 29992880 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595720,nssv1556352,nssv1536742,nssv1521015,nssv1572310,nssv1540707 M 6533 3 3 "" IS32944,IS40304,MS12943,MS14978,MS21928,SP51380 dgv6497n71 6 29982594 29994143 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883868,nsv883890,nsv883882,nsv883881,nsv883870 M 6533 14 0 "" IS36656,MS10615,MS11307,MS11481,MS12771,MS13629,MS14010,MS18226,MS21162,MS22273,MS22999,MS24888,MS24932,MS25300 dgv6498n71 6 29984419 30000415 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883896,nsv883911,nsv883891 M 6533 0 4 HCG4B IS41511,MS17398,SP51389,SP52329 dgv116n17 6 29985002 30007656 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437492,nsv437493,nsv437490 M 60 0 3 HCG4B NA18506,NA19120,NA19202 dgv6499n71 6 29985843 30014670 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883938,nsv883899 M 6533 2 0 HCG4B MS14304,MS24265 dgv6500n71 6 29986717 30001019 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883902,nsv883914,nsv883900,nsv883901,nsv883912,nsv883915 M 6533 13 0 HCG4B IS38471,IS41672,MS10922,MS11078,MS11097,MS13157,MS13716,MS15589,MS16808,MS18290,MS19017,MS19372,MS24497 dgv6501n71 6 29986717 30007606 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883923,nsv883934,nsv883904,nsv883930,nsv883931,nsv883935,nsv883922,nsv883933,nsv883924,nsv883925,nsv883926 M 6533 0 72 HCG4B IS30351,IS31283,IS32395,IS35802,IS40446,IS40588,IS40738,IS41061,MS10350,MS10375,MS10413,MS10682,MS11015,MS11497,MS12461,MS12688,MS13771,MS14318,MS14384,MS14513,MS14684,MS14755,MS14933,MS15060,MS15385,MS15600,MS15771,MS15871,MS16611,MS17380,MS18465,MS18722,MS19638,MS21803,MS23117,MS23701,MS24052,MS24245,MS24405,MS24498,MS24833,MS24919,MS25553,MS25699,MS25902,SP50107,SP50998,SP51147,SP52328,SP52440,SP52661,SP53937,SP54139,SP54448,SP54617,SP54761,SP54776,SP55131,SP55265,SP55401,SP55433,SP55511,SP55573,SP56419,SP56457,SP56505,SP56543,SP57188,SP57671,SP80948,SP81097,SP81459 essv101795 6 29987508 30007368 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. HCG4B NA19144 dgv6502n71 6 29988619 30007606 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883927,nsv883928,nsv883920,nsv883936,nsv883919,nsv883918,nsv883929,nsv883917,nsv883940,nsv883916 M 6533 21 0 HCG4B MS10381,MS11087,MS13032,MS13490,MS13758,MS14849,MS14938,MS15480,MS15885,MS16074,MS16208,MS18307,MS18406,MS18946,MS20236,MS21458,MS22089,MS22707,MS22894,MS23160,SP81403 dgv6503n71 6 29989017 30007606 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv883921,nsv883937,nsv883932 M 6533 3 153 HCG4B IS30267,IS32697,IS32704,IS33832,IS34057,IS34491,IS34687,IS35342,IS35824,IS36105,IS36438,IS37817,IS37915,IS37963,IS37964,IS38058,IS38128,IS38212,IS38220,IS38979,IS39009,IS39205,IS39354,IS39393,IS39503,IS39527,IS39991,IS40825,IS40886,IS40951,MS10174,MS10183,MS10567,MS10645,MS10739,MS10825,MS10867,MS11135,MS11326,MS11389,MS11641,MS11675,MS11722,MS11741,MS11791,MS12170,MS12261,MS12609,MS12719,MS13058,MS13206,MS13252,MS13288,MS13867,MS14260,MS14289,MS14361,MS14636,MS15014,MS15097,MS15167,MS15242,MS15838,MS15973,MS16124,MS16158,MS16213,MS16368,MS16471,MS16740,MS16796,MS16801,MS16926,MS17017,MS17019,MS17113,MS17148,MS17385,MS17534,MS17618,MS17637,MS17820,MS18132,MS18153,MS18247,MS18325,MS18368,MS18377,MS18485,MS18510,MS18568,MS18665,MS18747,MS18784,MS18848,MS19341,MS19438,MS19599,MS19606,MS19683,MS19886,MS20247,MS20588,MS20671,MS21090,MS21136,MS21218,MS21841,MS21924,MS22154,MS22207,MS22306,MS22453,MS22764,MS23236,MS23703,MS23709,MS23725,MS23916,MS23957,MS24077,MS24207,MS24219,MS24266,MS24272,MS24274,MS24328,MS24479,MS24483,MS24517,MS24701,MS24738,MS24872,MS24970,MS24997,MS25101,MS25181,MS25486,MS25564,MS25589,MS25728,MS25731,MS25756,MS25813,MS25864,MS26118,MS26123,SP50177,SP51243,SP54026,SP56653,SP56750,SP56818,SP58343,SP81348,SP81397 dgv6504n71 6 29992625 30005175 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883941,nsv883939 M 6533 0 3 HCG4B MS24839,MS26145,SP54043 dgv1915e1 6 29993482 30014028 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20714,essv712,essv24459 M 271 0 0 HCG4B NA12752,NA12865,NA18940 dgv6505n71 6 29994355 30007656 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883943,nsv883942 M 6533 0 2 HCG4B SP54456,SP58047 dgv6506n71 6 29996478 30021706 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883944,nsv883945 M 6533 0 2 HCG4B,HLA-A MS10698,MS18276 essv101815 6 30001136 30025682 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. HCG4B,HLA-A NA12155 essv7947 6 30006876 30025125 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. HLA-A NA19203 nsv511861 6 30007657 30009593 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624392 S 1 0 1 "" 1 esv4593 6 30007727 30009591 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27034 S 1 0 1 Single Asian sample YH "" YH esv1684110 6 30007761 30009519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341171 S 2 0 1 "" HuRef nsv350103 6 30007762 30009519 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368681 M 24 "" esv7126 6 30007766 30009512 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29567 S 1 0 1 "" SJK esv8553 6 30010011 30019238 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30994 S 1 0 1 HLA-A SJK nsv350065 6 30011861 30011861 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368643 M 24 "" dgv6507n71 6 30014670 30021494 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883950,nsv883948,nsv883947,nsv883946,nsv883949 M 6533 13 0 HLA-A SP50087,SP50574,SP50776,SP50823,SP50915,SP52399,SP53044,SP53060,SP54663,SP54753,SP55820,SP56396,SP56927 nsv883951 6 30017050 30020809 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502112,nssv1509321 M 6533 1 1 HLA-A SP50882,SP54782 nsv883952 6 30017050 30020947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500803,nssv1501586 M 6533 0 2 HLA-A SP50998,SP51115 nsv883953 6 30017499 30020989 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506379 S 6533 1 0 HLA-A SP54225 dgv6508n71 6 30018517 30020989 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv883956,nsv883955,nsv883954 M 6533 5 0 HLA-A SP51040,SP52497,SP54524,SP55451,SP55690 nsv883957 6 30018517 30028918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560998 S 6533 1 0 HLA-A MS24790 dgv6509n71 6 30018710 30021521 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883959,nsv883958 M 6533 0 7 HLA-A SP51477,SP51493,SP51499,SP52019,SP52925,SP54604,SP55852 nsv883960 6 30018710 30023280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503845 S 6533 0 1 HLA-A SP52117 esv994074 6 30019045 30045886 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586219 S 3 1 0 HLA-A HuRef esv2641340 6 30021266 30086523 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319315 S 1 0 1 HCG9,HLA-A,HLA-J,ZNRD1-AS1 NA18507 dgv6510n71 6 30022249 30031107 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883963,nsv883962,nsv883961 M 6533 0 4 "" IS30178,IS35378,MS10615,MS16416 dgv6511n71 6 30024182 30031796 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883964,nsv883965,nsv883967,nsv883966,nsv883973 M 6533 0 70 "" MS10227,MS10352,MS10626,MS10731,MS11087,MS11454,MS11537,MS11823,MS12206,MS12262,MS13088,MS13359,MS13467,MS14164,MS14295,MS14336,MS14421,MS14658,MS14786,MS14809,MS14923,MS15780,MS16337,MS16459,MS16544,MS16632,MS16792,MS16835,MS17093,MS17371,MS17421,MS18117,MS18123,MS18255,MS18365,MS18422,MS18917,MS19143,MS20254,MS20302,MS21309,MS21420,MS21721,MS22952,MS23566,MS24080,MS24212,MS24225,MS24329,MS24600,MS24605,MS24690,MS24769,MS24909,MS25087,MS25112,MS25338,MS25429,MS25625,MS25674,MS25769,MS25801,MS25890,MS26030,MS26151,SP52614,SP53415,SP53602,SP55834,SP56769 dgv6512n71 6 30024597 30047219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883974,nsv883971,nsv883972,nsv883970,nsv883969,nsv883986,nsv883968,nsv883985,nsv883975,nsv883984,nsv883979,nsv883976,nsv883983,nsv883978,nsv883982,nsv883981 M 6533 0 34 "" MS10109,MS10896,MS11300,MS12092,MS12191,MS12432,MS12883,MS13408,MS13469,MS13553,MS13703,MS13800,MS14485,MS14848,MS14947,MS15340,MS15429,MS16315,MS16494,MS17389,MS18979,MS20367,MS20708,MS21244,MS21325,MS22590,MS24031,MS24762,MS25042,MS25484,MS25519,MS25521,MS26019,SP56042 nsv470807 6 30024597 30047219 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544458,nssv544455,nssv544460,nssv544461,nssv544456,nssv544462,nssv544459,nssv544457 M 443 0 8 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00466,HGDP00479,HGDP00550,HGDP00551,HGDP00554,HGDP00661,HGDP00664,HGDP00789 esv2421556 6 30024834 30045812 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117336,essv5098678,essv5126076,essv5101822,essv5154489,essv5108822,essv5086512,essv5021971,essv5071210,essv5148762,essv5043665,essv5053500,essv5130629,essv5090961,essv5029979,essv5144615 M 1184 0 16 "" NA18501,NA18519,NA18873,NA19107,NA19109,NA19131,NA19132,NA19197,NA19199,NA19308,NA19350,NA19391,NA19396,NA19397,NA19430,NA19438 dgv1916e1 6 30025125 30072927 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14937,essv6502 M 271 0 0 HCG9 NA18572,NA19132 nsv883977 6 30025570 30031107 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596459,nssv1557486 M 6533 1 1 "" IS40521,MS22707 dgv741n27 6 30026078 30045812 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462737,nsv462735,nsv462734,nsv462736 M 1557 0 4 "" HGDP00545,HGDP00554,HGDP00664,HGDP00788 nsv517134 6 30026078 30045812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688532,nssv690111,nssv683310,nssv699305,nssv680942,nssv656868,nssv663136,nssv681175,nssv679716,nssv663031,nssv680269,nssv653838,nssv690538,nssv675648,nssv664930,nssv698669,nssv672818,nssv663088,nssv662087,nssv675973,nssv659025,nssv655092 M 2026 0 22 "" nsv883980 6 30026177 30032707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566451 S 6533 0 1 "" IS30742 nsv511340 6 30028748 30030102 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625677 S 1 0 1 "" 1 nsv511862 6 30028755 30030705 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624393 S 1 0 1 "" 1 nsv437494 6 30031095 30046237 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467375 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 dgv6513n71 6 30032109 30047219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv883987,nsv883999,nsv884005,nsv883990,nsv883988,nsv883993,nsv883991,nsv883996,nsv883989,nsv883995,nsv883992,nsv884001,nsv883998,nsv883997,nsv884003,nsv884000,nsv884002,nsv884006,nsv883994,nsv884007,nsv884004 M 6533 0 161 "" IS38112,IS38386,IS38511,MS10119,MS10127,MS10187,MS10280,MS10352,MS10400,MS10591,MS10695,MS10731,MS10959,MS10991,MS11087,MS11273,MS11444,MS11454,MS11537,MS11635,MS11694,MS11760,MS11823,MS11854,MS11883,MS12041,MS12050,MS12129,MS12157,MS12206,MS12286,MS12353,MS12561,MS12724,MS12776,MS12863,MS12917,MS12943,MS13088,MS13177,MS13281,MS13351,MS13521,MS13712,MS13716,MS13751,MS13918,MS14164,MS14295,MS14658,MS14786,MS14809,MS14855,MS14883,MS15102,MS15191,MS15212,MS15389,MS15637,MS15642,MS15686,MS15727,MS15780,MS15916,MS15925,MS16038,MS16060,MS16070,MS16074,MS16078,MS16345,MS16347,MS16362,MS16415,MS16455,MS16459,MS16521,MS16632,MS16707,MS16835,MS16902,MS16921,MS17271,MS17319,MS17373,MS17408,MS17421,MS17658,MS18021,MS18117,MS18170,MS18190,MS18205,MS18255,MS18267,MS18307,MS18407,MS18422,MS18531,MS18533,MS18682,MS18715,MS19143,MS19486,MS19502,MS19917,MS20117,MS20170,MS20211,MS20251,MS20254,MS20471,MS20510,MS20616,MS20850,MS20996,MS21118,MS21124,MS21458,MS21460,MS21522,MS21721,MS21928,MS22262,MS22321,MS22337,MS22393,MS22454,MS22505,MS22748,MS22787,MS22928,MS22968,MS23165,MS23587,MS23789,MS23811,MS24051,MS24080,MS24223,MS24225,MS24329,MS24489,MS24692,MS24774,MS24888,MS24909,MS25038,MS25087,MS25219,MS25331,MS25338,MS25498,MS25734,MS25769,MS25801,MS25814,MS25887,MS25891,MS25946,MS26151 dgv742n27 6 30032758 30045812 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462741,nsv462740,nsv462738 M 1557 0 3 "" HGDP00479,HGDP00551,HGDP00552 dgv6514n71 6 30034061 30047219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884021,nsv884016,nsv884022,nsv884013,nsv884012,nsv884011,nsv884010,nsv884009,nsv884008,nsv884018,nsv884015,nsv884014,nsv884017,nsv884023,nsv884019,nsv884020 M 6533 0 63 "" MS10227,MS10517,MS10615,MS10848,MS10947,MS12262,MS12615,MS13032,MS13160,MS14421,MS14837,MS14849,MS14938,MS15312,MS15480,MS15834,MS15859,MS16176,MS16381,MS16544,MS16621,MS16699,MS16792,MS16824,MS17093,MS17121,MS17779,MS17974,MS18123,MS18159,MS18677,MS18695,MS18752,MS18917,MS19006,MS19321,MS19503,MS19571,MS19587,MS19703,MS20047,MS20302,MS20843,MS21309,MS21483,MS22728,MS22765,MS23160,MS23878,MS24001,MS24280,MS24337,MS24605,MS24704,MS24769,MS24969,MS25429,SP50540,SP52614,SP53415,SP53602,SP54225,SP56769 nsv437963 6 30034576 30037232 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468736,nssv468735 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19131,NA19132 nsv884024 6 30036116 30042676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557550 S 6533 0 1 "" MS22754 dgv6515n71 6 30036116 30045903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884032,nsv884037,nsv884039,nsv884025,nsv884030,nsv884042,nsv884029,nsv884028,nsv884027,nsv884026,nsv884033,nsv884031,nsv884036,nsv884038,nsv884040,nsv884041,nsv884034,nsv884035 M 6533 0 72 "" MS10580,MS10592,MS10593,MS10626,MS10709,MS10948,MS11218,MS11298,MS11522,MS12398,MS12859,MS13359,MS13467,MS13552,MS14105,MS14287,MS14336,MS14679,MS14779,MS14923,MS15342,MS15972,MS16064,MS16066,MS16337,MS16416,MS16436,MS16607,MS17120,MS17363,MS17371,MS17414,MS17760,MS17913,MS18365,MS18400,MS18436,MS18494,MS18779,MS18976,MS19246,MS19340,MS19700,MS19705,MS20670,MS21420,MS21677,MS23566,MS24003,MS24010,MS24032,MS24139,MS24162,MS24212,MS24508,MS24600,MS24690,MS24798,MS24971,MS25112,MS25163,MS25190,MS25193,MS25345,MS25406,MS25625,MS25674,MS25853,MS25890,MS25980,MS26030,MS26120 dgv6516n71 6 30040645 30045903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884043,nsv884044 M 6533 0 2 "" MS13019,MS23332 essv6051 6 30045083 30073480 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. HCG9 NA18603 esv22169 6 30049736 30050828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14874 S 451 0 1 "" NA15510 nsv511347 6 30050105 30050836 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625755 S 1 0 1 "" 1 esv267694 6 30053440 30053751 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502493,essv2510574,essv2506312,essv2507520,essv2505778,essv2509243,essv2495722,essv2501533,essv2512150,essv2501929,essv2498163,essv2503995 M 157 12 0 Samples from several populations that are part of the HapMap project. HCG9 NA07037,NA12750,NA18501,NA18566,NA18638,NA18861,NA18909,NA18916,NA19093,NA19238,NA19239,NA19240 esv274486 6 30053450 30053724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580651,essv2579301,essv2579794 M 7 3 0 Samples from several populations that are part of the HapMap project. HCG9 NA19238,NA19239,NA19240 nsv511863 6 30053536 30056644 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624394 S 1 0 1 HCG9 1 nsv511864 6 30058045 30061895 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624395 S 1 0 1 "" 1 dgv6517n71 6 30105291 30131847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884046,nsv884045 M 6533 0 2 ZNRD1-AS1 IS35018,MS21325 esv270150 6 30106438 30106784 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519174,essv2514847,essv2515771,essv2517911,essv2516008,essv2514304,essv2517647,essv2516212,essv2518963,essv2515201 M 157 10 0 Samples from several populations that are part of the HapMap project. ZNRD1-AS1 NA11894,NA12234,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA19141,NA19238 esv272388 6 30106442 30106778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584381,essv2583620 M 7 2 0 Samples from several populations that are part of the HapMap project. ZNRD1-AS1 NA19238,NA19240 esv1527047 6 30106475 30106475 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4074788 S 2 1 0 ZNRD1-AS1 HuRef nsv884047 6 30106851 30115472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558381 S 6533 0 1 ZNRD1-AS1 MS23257 nsv819291 6 30111820 30117794 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419748 S 2 0 1 ZNRD1-AS1 AK1 nsv884048 6 30113733 30129719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597518 S 6533 0 1 ZNRD1-AS1 IS41317 nsv884049 6 30145332 30155382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544236 S 6533 0 1 PPP1R11,RNF39 MS16315 dgv6518n71 6 30167430 30179309 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884051,nsv884050,nsv884053 M 6533 3 0 TRIM31 SP52124,SP52834,SP81119 dgv6519n71 6 30167571 30177504 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884054,nsv884052 M 6533 2 0 "" SP54680,SP55417 nsv524794 6 30174010 30175871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700786 S 2026 0 1 "" nsv884055 6 30186254 30195755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559234 S 6533 0 1 TRIM31 MS23791 nsv884056 6 30197602 30205797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573788 S 6533 0 1 "" IS33504 nsv884057 6 30248519 30257230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573789 S 6533 0 1 "" IS33504 nsv884058 6 30290374 30310408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598262 S 6533 0 1 "" IS41317 nsv884059 6 30298463 30306995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578336 S 6533 0 1 "" IS34760 nsv884060 6 30298619 30311581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597069 S 6533 0 1 "" IS40729 esv2428476 6 30315250 30316814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229195 S 1 0 1 "" NA18507 esv267641 6 30329922 30330249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512008,essv2498170 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv273258 6 30329946 30330129 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581954,essv2582506,essv2582826,essv2584297,essv2584403,essv2583290 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv884061 6 30342606 30358429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598692 S 6533 0 1 HLA-L IS41224 nsv884062 6 30345433 30364817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601041 S 6533 0 1 HCG18 IS41964 nsv5241 6 30408880 30443412 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv540 S 9 1 0 RPP21,TRIM39,TRIM39-RPP21 NA19240 nsv519809 6 30451682 30455812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678737,nssv658833 M 2026 0 2 "" esv21595 6 30467601 30472270 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18201,esv18372,esv16525 M 451 8 0 "" NA06985,NA11993,NA12006,NA12239,NA12287,NA12776,NA15510,NA19190 nsv526251 6 30474079 30475991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702523 S 2026 0 1 "" nsv884063 6 30474079 30505198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591065 S 6533 0 1 "" IS38630 nsv518836 6 30475161 30475991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696289 S 2026 0 1 "" nsv462742 6 30480549 30518185 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538837 S 1557 0 1 "" 1780862448_A nsv884064 6 30483269 30504152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583893 S 6533 0 1 "" IS36722 dgv6520n71 6 30538499 30559453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884069,nsv884067,nsv884065,nsv884068 M 6533 0 4 "" IS39233,IS41243,MS16153,MS18276 nsv884066 6 30538854 30548711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595367 S 6533 0 1 "" IS40230 nsv884070 6 30538854 30580751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573790 S 6533 0 1 HLA-E IS33504 dgv6521n71 6 30541069 30553455 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884073,nsv884071 M 6533 0 2 "" IS30369,IS33239 dgv6522n71 6 30541590 30557025 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884072,nsv884079,nsv884075,nsv884074 M 6533 0 8 "" IS30522,IS31045,IS31581,IS33797,IS34235,IS34304,IS39716,MS17522 nsv884076 6 30542545 30591898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572033 S 6533 1 0 HLA-E IS32843 nsv884077 6 30542879 30620142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597772 S 6533 0 1 GNL1,HLA-E IS41317 nsv884078 6 30543267 30554034 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591417,nssv1596810,nssv1588195,nssv1571871 M 6533 2 2 "" IS32841,IS38176,IS38810,IS40646 nsv884080 6 30543780 30555966 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576000 S 6533 1 0 "" IS33857 dgv6523n71 6 30563899 30583410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884081,nsv884082 M 6533 0 2 HLA-E IS39233,SP54956 nsv5242 6 30569557 30600190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4905 S 9 1 0 HLA-E NA19129 esv2421394 6 30570063 30571187 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104659,essv5105468,essv5122895,essv5037572,essv5032698,essv5123324,essv5083359,essv5016078,essv5077023,essv5103533,essv5025809,essv5055095,essv5016026,essv5088337,essv5112081,essv5086399,essv5011285,essv5016741,essv5006039,essv5147973,essv5156886,essv5158467,essv5069006,essv5021027,essv5036777,essv5030479,essv5051383,essv5092841,essv5031946,essv5025182,essv5025938,essv5076428,essv5038361,essv5126505,essv5107496,essv5092650,essv5040925,essv5107810,essv5037466,essv5046329,essv5074533,essv5032825,essv5013486,essv5017200,essv5137214,essv5066199,essv5085931,essv5114858,essv5070758,essv5137787,essv5050253,essv5021277,essv5149394,essv5123409,essv5056386,essv5057560,essv5011329,essv5126738,essv5114504,essv5029885,essv5145259,essv5121181,essv5106554,essv5020037,essv5035399,essv5042328,essv5029535,essv5043796,essv5100384,essv5101668,essv5101239,essv5113667,essv5153682,essv5106245,essv5016555,essv5114503,essv5036555,essv5067182,essv5120364,essv5095607,essv5078190,essv5157387,essv5093339,essv5008369,essv5092839,essv5159539,essv5089375,essv5002499,essv5104814,essv5014158,essv5033460,essv5140800,essv5139894,essv5037964,essv5098520,essv5035574,essv5131127,essv5160056,essv5056978,essv5017863,essv5160118,essv5145771,essv5097207,essv5084390,essv5044220,essv5098565,essv5132937,essv5128036,essv5111922,essv5030222,essv5005237,essv5017219,essv5064834,essv5022289,essv5039123,essv5090039,essv5138323,essv5122339,essv5009736,essv5034835,essv5128308,essv5142493,essv5009174,essv5105291,essv5161173,essv5060541,essv5046438,essv5020443,essv5041193,essv5061597,essv5031933,essv5159339,essv5153496,essv5005526,essv5019908,essv5146462,essv5067148,essv5084176,essv5058230,essv5141355,essv5150443,essv5095690,essv5152457,essv5156862,essv5046764,essv5038444,essv5017227,essv5053670,essv5090008,essv5051372,essv5056704,essv5129039,essv5054722,essv5038561,essv5067622,essv5150923,essv5002505,essv5141759,essv5138701,essv5005429,essv5159107,essv5107915,essv5142452,essv5127016,essv5040742,essv5095552,essv5101864,essv5037524,essv5043522,essv5102811,essv5034692,essv5031453,essv5068499,essv5024002,essv5068669,essv5061062,essv5066476,essv5006265,essv5120716,essv5153486,essv5048827,essv5082534,essv5127638,essv5050545,essv5082994,essv5137657,essv5078462,essv5146781,essv5145494,essv5122383,essv5114636,essv5117006,essv5129609,essv5097582,essv5107075,essv5034242,essv5027239,essv5084890,essv5076405,essv5087533,essv5028706,essv5060158,essv5141634,essv5135445,essv5064216,essv5121591,essv5097565,essv5016491,essv5065069,essv5082435,essv5097952,essv5005013,essv5041005,essv5011184,essv5140653,essv5053531,essv5055726,essv5159443,essv5035040,essv5071839,essv5050997,essv5102796,essv5059691,essv5060090,essv5051615,essv5005246,essv5005482,essv5106188,essv5054642,essv5021295,essv5073222,essv5137473,essv5061295,essv5084092,essv5124008,essv5041086,essv5110709,essv5010263,essv5094531,essv5058972,essv5100136,essv5101763,essv5019311,essv5025481,essv5051236,essv5075072,essv5030413,essv5158353,essv5034249,essv5095803,essv5159373,essv5141538,essv5012049,essv5068521,essv5138974,essv5067690,essv5148230,essv5103588,essv5119992,essv5022801,essv5123270,essv5091605,essv5065927,essv5069877,essv5046290,essv5005487,essv5094749,essv5134704,essv5020528,essv5074762,essv5139266,essv5046058,essv5023163,essv5128644,essv5020795,essv5004538,essv5134965,essv5003707,essv5070513,essv5010579,essv5077939,essv5111168,essv5142723,essv5074813,essv5145877,essv5119759,essv5158064,essv5117427,essv5055612,essv5139009,essv5019612,essv5027424,essv5050905,essv5070241,essv5106045,essv5151002,essv5140301,essv5143678,essv5088261,essv5097087,essv5010097,essv5018360,essv5043476,essv5109913,essv5074485,essv5012810,essv5058872,essv5070363,essv5116266,essv5086441,essv5116961,essv5078315,essv5120736,essv5138626,essv5065576,essv5073407,essv5139368,essv5033963,essv5093127,essv5132351,essv5131592,essv5047358,essv5133480,essv5047286,essv5046725,essv5146163,essv5021988,essv5132988,essv5100585,essv5065004,essv5046488,essv5124937,essv5030276,essv5151582,essv5073120,essv5049434,essv5010843,essv5038845,essv5142165,essv5094959,essv5089721,essv5083366,essv5126801,essv5158383,essv5050010,essv5072034,essv5017453,essv5105812,essv5011139,essv5099960,essv5044704,essv5066161,essv5088538,essv5155503,essv5077838,essv5030336,essv5037709,essv5115008,essv5110732,essv5138466,essv5106372,essv5153050,essv5095246,essv5064336,essv5053516,essv5112667,essv5110258,essv5019559,essv5095468,essv5018759,essv5006053,essv5129225,essv5111424,essv5104810,essv5098577,essv5145382,essv5132150,essv5102138,essv5154330,essv5009454,essv5150717,essv5006157,essv5064920,essv5117843,essv5021782,essv5108831,essv5145108,essv5052801,essv5117332,essv5103856,essv5093775,essv5038649,essv5048709,essv5051621,essv5099874,essv5159900,essv5002785,essv5063579,essv5147081,essv5068789,essv5158086,essv5145030,essv5021122,essv5010763,essv5101965,essv5027932,essv5154569,essv5060933,essv5028310,essv5042729,essv5127533,essv5021907,essv5143331,essv5017533,essv5152298,essv5099137,essv5039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M 1184 0 1081 "" 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nsv884083 6 30570063 30578648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510718 S 6533 0 1 "" SP54988 dgv6524n71 6 30570063 30583410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884087,nsv884084 M 6533 0 5 "" IS34407,IS36910,IS38176,IS41243,IS41634 nsv884085 6 30570063 30590059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576683 S 6533 0 1 "" IS34235 nsv884086 6 30570063 30780736 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592621 S 6533 1 0 ABCF1,ATAT1,C6orf136,DHX16,GNL1,KIAA1949,MDC1,MIR877,MRPS18B,NRM,PPP1R10,PRR3 IS39243 dgv6525n71 6 30573771 30590059 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884088,nsv884089 M 6533 3 0 "" IS38208,IS38810,IS40646 nsv823471 6 30591081 30591957 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432079 S 31 0 1 "" AK20 nsv884090 6 30605631 30618971 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595926,nssv1558752 M 6533 0 2 GNL1 IS40368,MS23531 nsv884091 6 30634005 30698625 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597863 S 6533 0 1 ABCF1,MIR877,MRPS18B,PPP1R10,PRR3 IS41317 nsv5244 6 30653090 30697782 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8228 S 9 0 1 ABCF1,MIR877,MRPS18B,PPP1R10 NA12156 nsv830626 6 30666043 30840884 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445321,nssv1445320 M 95 0 2 ABCF1,ATAT1,C6orf136,DHX16,FLOT1,IER3,KIAA1949,MDC1,MRPS18B,NRM,PPP1R10,TUBB dgv6526n71 6 30712934 30726885 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884093,nsv884092 M 6533 0 3 ATAT1,C6orf136 IS39233,MS10311,MS17208 nsv884094 6 30745977 30768590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530536 S 6533 0 1 DHX16,KIAA1949,NRM MS10311 nsv823472 6 30746560 30752197 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421742 S 31 1 0 DHX16,KIAA1949 NA18997 dgv1917e1 6 30752672 30924298 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15379,esv779,essv13511 M 271 0 0 FLOT1,IER3,KIAA1949,MDC1,NRM,TUBB NA19160,NA19203 dgv6527n71 6 30752966 30772546 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884095,nsv884098,nsv884096 M 6533 0 4 KIAA1949,NRM IS39233,MS16153,MS17208,MS18276 dgv6528n71 6 30758357 30768590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884099,nsv884097 M 6533 0 2 KIAA1949,NRM IS37172,MS16315 nsv10811 6 30759678 30763409 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15462,nssv16590,nssv15188 M 31 3 0 Samples from several populations that are part of the HapMap project. KIAA1949 NA12155,NA18502,NA19221 nsv884100 6 30801795 30859305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591883 S 6533 1 0 FLOT1,IER3 IS39081 nsv884101 6 30803899 30841100 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595047 S 6533 1 0 FLOT1,IER3 IS40073 nsv884102 6 30813992 30828546 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592622 S 6533 1 0 FLOT1,IER3 IS39243 esv27212 6 30823613 30824170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18724 S 451 0 2 "" NA18907,NA19129 nsv527226 6 30824698 30880357 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703626 S 2026 1 0 "" nsv884103 6 30837466 30863647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600710 S 6533 1 0 "" IS41919 nsv884104 6 30848659 30861125 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595048 S 6533 1 0 "" IS40073 esv28795 6 30863725 30864365 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16033 S 451 0 1 "" NA12828 nsv525685 6 30864045 30864340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701843 S 2026 0 1 "" dgv6529n71 6 30883558 30895302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884107,nsv884106,nsv884105 M 6533 0 4 "" IS33684,IS39233,IS40230,SP54956 esv1253576 6 30891138 30891138 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045082 S 2 1 0 "" HuRef esv1281142 6 30891543 30891703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775586 S 2 0 1 "" HuRef essv1810 6 30893252 30896567 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18971 nsv10812 6 30893640 30897838 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14175 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 nsv526110 6 30908556 30918633 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702358 S 2026 1 0 "" nsv884108 6 30929166 30946476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511934 S 6533 0 1 "" SP55195 nsv884109 6 30932511 30980182 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592623 S 6533 1 0 DDR1,MIR4640 IS39243 nsv5245 6 30942330 30975481 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4906 S 9 1 0 DDR1,MIR4640 NA19129 dgv6530n71 6 30953542 30966970 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884113,nsv884115,nsv884110 M 6533 0 3 DDR1,MIR4640 IS39417,SP54988,SP55195 dgv6531n71 6 30953542 30975809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884112,nsv884114,nsv884111 M 6533 0 3 DDR1,MIR4640 IS40230,MS17208,SP54956 dgv6532n71 6 30956232 30973883 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884117,nsv884116,nsv884123,nsv884120 M 6533 0 4 DDR1,MIR4640 IS33504,IS37646,MS16153,MS16315 dgv6533n71 6 30957801 30964671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884119,nsv884118,nsv884121 M 6533 0 4 DDR1 IS33239,IS34057,IS40502,IS41410 nsv884122 6 30958170 30966970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571872 S 6533 0 1 DDR1,MIR4640 IS32841 dgv6534n71 6 30962069 30972808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884125,nsv884124 M 6533 0 3 DDR1,MIR4640 IS39233,MS10311,MS18276 nsv525438 6 30972808 31041954 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701566 S 2026 1 0 DDR1,DPCR1,GTF2H4,SFTA2,VARS2 nsv523346 6 30990492 31001920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699095 S 2026 0 1 VARS2 esv2088436 6 30994236 30994747 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878825 S 1 0 1 VARS2 NA18507 nsv884126 6 30994329 31003969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597283 S 6533 0 1 VARS2 IS40799 nsv823473 6 31028096 31028981 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423432 S 31 0 1 DPCR1 NA18999 nsv462744 6 31028869 31063660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538838 S 1557 0 1 DPCR1,MUC21 NINDS_133 nsv516729 6 31040288 31040511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678854,nssv659341,nssv691882,nssv670491 M 2026 0 4 "" esv5663 6 31062806 31063243 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28104 S 1 0 1 MUC21 SJK dgv6535n71 6 31063660 31080100 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884127,nsv884128 M 6533 0 3 MUC21 IS32737,IS37172,IS37646 esv1151879 6 31088899 31088899 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090285 S 2 1 0 MUC22 HuRef nsv884129 6 31089406 31096485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544239,nssv1576684,nssv1543463,nssv1595370,nssv1576417,nssv1587970,nssv1530538,nssv1549690 M 6533 0 8 MUC22 IS34057,IS34235,IS38144,IS40230,MS10311,MS16153,MS16315,MS18276 esv24694 6 31090054 31097809 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11261 S 451 0 1 MUC22 NA19129 nsv518538 6 31091305 31099538 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695982 S 2026 1 0 MUC22 nsv519229 6 31101512 31101569 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696720 S 2026 0 1 MUC22 nsv517797 6 31101569 31104111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694166 S 2026 0 1 MUC22 nsv528807 6 31101569 31107976 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705481 S 2026 0 1 MUC22 nsv513665 6 31116741 31117680 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626917 S 1 0 0 "" 1 esv1594511 6 31117201 31118074 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135085 S 2 0 0 "" HuRef nsv499248 6 31117201 31118075 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586482 S 9 1 0 "" nsv513666 6 31117551 31119570 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626918 S 1 0 0 "" 1 nsv436708 6 31117665 31119504 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466267 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv823474 6 31120486 31121001 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432930 S 31 0 1 "" NA18592 esv2327814 6 31120638 31121125 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636012 S 1 0 1 "" NA18507 nsv350101 6 31120811 31120899 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368679 M 24 "" esv1377693 6 31120851 31120940 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641794 S 2 0 1 "" HuRef dgv6536n71 6 31122284 31148704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884130,nsv884131 M 6533 0 2 HCG22 MS11733,MS15060 nsv884132 6 31122284 31165162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598998 S 6533 0 1 HCG22 IS41317 esv27565 6 31131115 31131580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15737 S 451 0 2 HCG22 NA12828,NA19190 nsv511865 6 31131139 31134098 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624396 S 1 0 1 HCG22 1 esv4161 6 31131204 31131683 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26602 S 1 0 1 Single Asian sample YH HCG22 YH nsv524716 6 31131503 31132787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700701 S 2026 0 1 HCG22 nsv884133 6 31132652 31144127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560788 S 6533 0 1 HCG22 MS24705 dgv1918e1 6 31136269 31342560 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10053,essv12313,essv21551,essv19239,essv22306,essv18965 M 271 0 0 C6orf15,CCHCR1,CDSN,HCG27,POU5F1,PSORS1C1,PSORS1C2,PSORS1C3,TCF19 NA06985,NA10838,NA12005,NA12873,NA19099,NA19138 dgv1919e1 6 31136269 31460757 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20068,essv23868,essv21076,essv21839,essv22195,essv16474 M 271 0 0 C6orf15,CCHCR1,CDSN,HCG27,HLA-B,HLA-C,POU5F1,PSORS1C1,PSORS1C2,PSORS1C3,TCF19 NA06991,NA07048,NA11839,NA12044,NA12814,NA19139 nsv428140 6 31136269 31570085 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450640,nssv450644,nssv450643 M 62 1 1 C6orf15,CCHCR1,CDSN,HCG26,HCG27,HCP5,HLA-B,HLA-C,MICA,POU5F1,PSORS1C1,PSORS1C2,PSORS1C3,TCF19 HGDP00449,HGDP01093 esv690 6 31136269 31650287 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 ATP6V1G2,ATP6V1G2-DDX39B,C6orf15,CCHCR1,CDSN,DDX39B,HCG26,HCG27,HCP5,HLA-B,HLA-C,LTA,MCCD1,MICA,MICB,NFKBIL1,POU5F1,PSORS1C1,PSORS1C2,PSORS1C3,SNORD117,SNORD84,TCF19 nsv884134 6 31136324 31156242 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592624 S 6533 1 0 "" IS39243 nsv884135 6 31142243 31152501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574582,nssv1574885 M 6533 0 2 "" IS33601,IS33665 nsv884136 6 31144762 31152501 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595927,nssv1587479,nssv1587884 M 6533 1 2 "" IS38057,IS38128,IS40368 nsv10813 6 31157997 31160763 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15492,nssv14368,nssv14524,nssv14047 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA18502,NA19144 nsv525933 6 31189184 31250224 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702139 S 2026 0 1 CCHCR1,CDSN,POU5F1,PSORS1C1,PSORS1C2,PSORS1C3,TCF19 nsv884137 6 31190340 31237289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543464 S 6533 0 1 CCHCR1,CDSN,PSORS1C1,PSORS1C2,TCF19 MS16153 esv33699 6 31202824 31217990 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93775 S 51 0 1 PSORS1C1,PSORS1C2 21972 nsv524061 6 31215066 31241922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699927 S 2026 0 1 CCHCR1,POU5F1,PSORS1C1,PSORS1C2,TCF19 esv33724 6 31222452 31226552 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96890,essv98365 M 51 2 0 CCHCR1 21817,22352 nsv884138 6 31222552 31237686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530539 S 6533 0 1 CCHCR1,TCF19 MS10311 esv32635 6 31249483 31358597 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101194,essv100944,essv95112,essv94706,essv94723,essv101349,essv96912,essv97038,essv97849,essv97422,essv101681,essv94569,essv99093,essv93659,essv95935,essv93197,essv98086,essv99408,essv98362,essv96303 M 51 3 15 HCG27,HLA-C,PSORS1C3 21618,21693,21721,21791,21805,21817,21837,21879,21909,21932,21938,21972,22127,22170,22259,22335,22352,22371 nsv507322 6 31256440 31262440 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620337 S 4 1 0 "" NA15510 esv22878 6 31301055 31302293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11716 S 451 0 4 "" NA18523,NA18858,NA18907,NA18909 dgv6537n71 6 31308536 31327848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884140,nsv884139 M 6533 0 2 "" IS35717,SP56047 nsv884141 6 31314595 31329018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501214 S 6533 0 1 "" SP51109 dgv102e19 6 31314845 31395074 CNV Loss Ahn et al 2009 19470904 Sequencing esv5999,esv6375 M 1 0 1 HLA-C SJK nsv10814 6 31315812 31346599 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14856,nssv15522,nssv14358,nssv14626,nssv13300,nssv16041,nssv14554,nssv14107,nssv14004 M 31 4 5 Samples from several populations that are part of the HapMap project. HLA-C NA10839,NA10863,NA11830,NA12802,NA18502,NA18552,NA18564,NA18860,NA18975 nsv884142 6 31318244 31347834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592625 S 6533 1 0 HLA-C IS39243 nsv511866 6 31319310 31321120 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624397 S 1 0 1 "" 1 esv2086082 6 31319401 31321304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551331 S 1 0 1 "" NA18507 esv5141 6 31319577 31321151 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27582 S 1 0 1 Single Asian sample YH "" YH esv1357955 6 31319609 31321109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041252 S 2 0 1 "" HuRef esv9020 6 31319610 31321094 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31461 S 1 0 1 "" SJK esv2422229 6 31323928 31430913 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161346 S 181 0 1 HLA-B,HLA-C ND04903 dgv377n21 6 31326218 31329018 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519073,nsv526354 M 2026 0 2 "" dgv6538n71 6 31326218 31340090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884145,nsv884143,nsv884144 M 6533 0 7 "" SP50535,SP51057,SP53303,SP53332,SP54524,SP55971,SP57418 esv2422034 6 31327782 31337657 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5030177,essv5046459,essv5114420,essv5073549,essv5116398,essv5056908,essv5051029,essv5136969,essv5146989,essv5090922,essv5056847,essv5091208,essv5159357,essv5024913,essv5126057,essv5072118,essv5056077,essv5062291,essv5088847,essv5029322,essv5146002,essv5017976,essv5141465,essv5045498,essv5050277,essv5006544,essv5110183,essv5159540,essv5067821,essv5112723,essv5133442,essv5020013,essv5056276,essv5048822,essv5065610,essv5142187,essv5127862,essv5105964,essv5114020,essv5005725,essv5068452,essv5031540,essv5036527,essv5038681,essv5143527,essv5049079,essv5156451,essv5147584,essv5159285,essv5065773,essv5142633,essv5103301,essv5101564,essv5096150,essv5017815,essv5117552,essv5124288,essv5032986,essv5109319,essv5007553,essv5111001,essv5065425 M 1184 0 62 "" NA12413,NA12753,NA12760,NA12762,NA17996,NA18114,NA18127,NA18134,NA18141,NA18157,NA18548,NA18562,NA18597,NA18611,NA18613,NA18622,NA18627,NA18635,NA18641,NA18682,NA18702,NA18939,NA18942,NA18944,NA18945,NA18952,NA18955,NA18963,NA18967,NA18968,NA18976,NA18978,NA18981,NA18990,NA18995,NA19002,NA19054,NA19060,NA19062,NA19065,NA19066,NA19077,NA19079,NA19083,NA19085,NA19086,NA19087,NA19359,NA19909,NA20343,NA20525,NA20535,NA20581,NA20752,NA20756,NA20796,NA20808,NA20875,NA20876,NA21101,NA21115,NA21451 esv27098 6 31327840 31343948 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12958,esv10935,esv15227 M 451 13 0 "" NA06985,NA07045,NA11931,NA12004,NA12044,NA12828,NA15510,NA18505,NA18517,NA18858,NA19099,NA19129,NA19147 esv2946 6 31336258 31430583 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25387 S 1 1 0 Single Asian sample YH HLA-B,HLA-C YH esv2521222 6 31337570 31340741 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161811 S 1 0 1 "" NA18507 essv12843 6 31338567 31342560 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19120 dgv1920e1 6 31338567 31460757 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2030,essv5382 M 271 0 0 HLA-B,HLA-C NA18563,NA18949 esv271737 6 31339985 31340371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499958,essv2504522,essv2508140,essv2508703,essv2501631,essv2502631 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18558,NA18563,NA18579,NA18592,NA18608,NA18965 dgv1921e1 6 31340561 31605085 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7843,essv3089 M 271 0 0 HCG26,HCP5,HLA-B,HLA-C,MCCD1,MICA,MICB NA18558,NA18969 esv2503823 6 31341018 31427341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366632 S 1 0 1 HLA-C NA18507 esv35158 6 31341489 31426200 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990373,essv6979502,essv6979503,essv6979504 M 771 1 0 HLA-C NA18563 nsv525255 6 31342360 31349011 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701352 S 2026 1 0 HLA-C dgv103e19 6 31342761 31433865 CNV Loss Ahn et al 2009 19470904 Sequencing esv6835,esv6661,esv5788,esv7127,esv6770 M 1 0 1 HLA-B,HLA-C SJK esv25563 6 31345003 31348296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20367,esv12719 M 451 0 4 HLA-C NA12006,NA12414,NA19108,NA19190 nsv511327 6 31345040 31346088 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625533 S 1 0 1 HLA-C 1 nsv884146 6 31345103 31348020 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507684,nssv1501875,nssv1508710,nssv1501777 M 6533 4 0 HLA-C SP50832,SP50977,SP54606,SP54650 esv2571432 6 31345624 31348432 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238474 S 1 0 1 HLA-C NA18507 nsv10815 6 31345931 31354990 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16071,nssv16620,nssv13877,nssv15218 M 31 4 0 Samples from several populations that are part of the HapMap project. HLA-C NA12155,NA18563,NA18860,NA19221 esv2422407 6 31348933 31430913 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161445 S 181 1 0 HLA-B ND00528 nsv516430 6 31349106 31351149 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677880,nssv687707,nssv693706,nssv657213,nssv658684,nssv676623,nssv655570,nssv689875,nssv668318,nssv693613,nssv693268,nssv701246,nssv677032,nssv694263,nssv688212,nssv683982,nssv683228 M 2026 2 15 "" esv32781 6 31351351 31361665 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96727 S 51 0 1 "" 22011 esv267959 6 31358183 31358489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517103,essv2518814,essv2515163,essv2517964,essv2513604 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12045,NA12812,NA12872 essv21944 6 31359339 31374314 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07000 nsv10817 6 31360200 31427736 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14656,nssv13907,nssv16553,nssv14613,nssv16394,nssv15248,nssv12919,nssv14167,nssv14132,nssv14137,nssv14045,nssv15278,nssv14388,nssv13031,nssv13612,nssv14584,nssv13916,nssv15552,nssv15883,nssv14205 M 31 6 14 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA19007 essv2723 6 31370848 31388921 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18944 esv1008956 6 31371047 31371722 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586725 S 3 0 1 "" HuRef esv27135 6 31371047 31374084 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11553 S 451 0 1 "" NA12156 esv267490 6 31371224 31371427 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506297,essv2504606 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19099 esv1009272 6 31371800 31387326 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586277 S 3 1 0 "" HuRef nsv462749 6 31372440 31380753 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538839 S 1557 0 1 "" 1780862076_A dgv1922e1 6 31374096 31443686 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6067,essv1713,essv6212 M 271 0 0 HLA-B NA18563,NA18603,NA18968 esv28249 6 31374704 31377479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13143 S 451 0 3 "" NA07037,NA12414,NA18907 dgv1923e1 6 31377008 31388921 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2381,essv5976,essv7259,essv6429,essv5945 M 271 0 0 "" NA18552,NA18577,NA18592,NA18635,NA18976 dgv1924e1 6 31377287 31425676 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4345,essv4943,essv6106 M 271 0 0 "" NA18537,NA18573,NA18622 nsv884147 6 31377327 31381009 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569655 S 6533 0 1 "" IS31656 nsv511332 6 31377708 31378430 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625588 S 1 0 1 "" 1 dgv1006n67 6 31377775 31384822 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823478,nsv823477 M 31 0 2 "" NA18592,NA18999 esv27315 6 31378345 31460357 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20184,esv11661,esv13488,esv14058,esv14377,esv15425,esv11221,esv17452,esv13768,esv17793,esv19447,esv21005,esv10002,esv17620,esv20180,esv12253,esv20813,esv14736,esv16579,esv21403,esv10535,esv14609,esv10145,esv15074,esv17624,esv16974 M 451 33 29 HLA-B NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv743n27 6 31378997 31382224 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462753,nsv462755,nsv462754,nsv462752 M 1557 0 4 "" 1780862094_A,1782681164_A,HGDP00526,HGDP00795 esv33109 6 31379607 31387591 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98781,essv100635,essv93735,essv99914,essv100237 M 51 4 1 "" 21606,21656,21972,22086,22286 essv101814 6 31379915 31381574 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 dgv6539n71 6 31382015 31394226 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884154,nsv884148,nsv884181,nsv884194,nsv884193,nsv884183,nsv884167,nsv884161,nsv884162 M 6533 12 0 "" IS32679,IS32944,IS32999,IS34257,IS38210,IS38611,IS39181,IS40440,SP50684,SP51356,SP52130,SP52231 dgv6540n71 6 31382015 31398785 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884185,nsv884170,nsv884149,nsv884156,nsv884195,nsv884169,nsv884165,nsv884214 M 6533 13 0 "" IS30081,IS30480,IS30620,IS31479,IS34081,IS35963,IS37351,IS39116,IS39714,IS39881,IS40239,SP50035,SP54362 dgv6541n71 6 31382015 31402666 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884158,nsv884166,nsv884180,nsv884198,nsv884201,nsv884187,nsv884171,nsv884157,nsv884153,nsv884215,nsv884200,nsv884173,nsv884217,nsv884207,nsv884150 M 6533 22 0 "" IS31334,IS34523,IS34526,IS34820,IS37292,IS38572,IS38634,IS40046,IS40429,IS40524,IS40612,IS40744,MS16208,SP50182,SP50942,SP51380,SP52904,SP53937,SP54552,SP54768,SP57852,SP80982 dgv6542n71 6 31382224 31397263 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884151,nsv884164,nsv884163,nsv884155 M 6533 0 4 "" IS33514,IS33552,IS33630,IS35717 dgv6543n71 6 31382224 31398785 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884196,nsv884197,nsv884186,nsv884152,nsv884228 M 6533 24 237 "" IS30080,IS30189,IS30197,IS30319,IS30372,IS30435,IS30925,IS30969,IS31039,IS31154,IS31211,IS31213,IS31307,IS31323,IS31373,IS31445,IS31481,IS31558,IS31563,IS31617,IS31679,IS31729,IS31821,IS31915,IS32644,IS33123,IS33150,IS33240,IS33243,IS33258,IS33261,IS33530,IS33675,IS33696,IS33705,IS33792,IS33797,IS33830,IS33894,IS34610,IS34613,IS34645,IS34912,IS35312,IS35549,IS35572,IS35608,IS35622,IS35973,IS36046,IS36086,IS36262,IS36532,IS36715,IS37043,IS37226,IS37393,IS37421,IS37422,IS37550,IS38008,IS38057,IS38110,IS38183,IS38202,IS38219,IS38262,IS38277,IS38313,IS38351,IS38362,IS38438,IS38463,IS38504,IS38505,IS38594,IS39042,IS39046,IS39078,IS39248,IS39331,IS39386,IS39517,IS39527,IS39888,IS39923,IS40222,IS40280,IS40387,IS40737,IS40738,IS40776,IS40831,IS40879,IS40898,IS41043,IS41243,IS41391,IS41525,IS41648,IS41730,MS10094,MS10228,MS10461,MS10580,MS10699,MS10840,MS10869,MS10871,MS10875,MS11004,MS11084,MS11159,MS11307,MS11971,MS12018,MS12265,MS12608,MS13019,MS13135,MS13168,MS13360,MS13490,MS14068,MS14216,MS14290,MS14323,MS14469,MS14681,MS14724,MS14752,MS14835,MS14897,MS15060,MS15341,MS15514,MS15768,MS15871,MS15973,MS16268,MS16345,MS16381,MS16493,MS16629,MS16809,MS17017,MS17043,MS17114,MS17244,MS17492,MS18104,MS18261,MS18290,MS18413,MS18788,MS18828,MS18837,MS19276,MS19886,MS20503,MS21130,MS21136,MS21180,MS21194,MS21309,MS21780,MS22268,MS22608,MS22653,MS22754,MS22863,MS22930,MS22970,MS23105,MS23165,MS23583,MS23770,MS23868,MS23885,MS24056,MS24489,MS24605,MS24692,MS24705,MS24785,MS24970,MS25099,MS25285,MS25774,MS25870,MS25940,SP50059,SP50086,SP50521,SP50561,SP50823,SP50872,SP50876,SP50915,SP50989,SP51108,SP51241,SP51244,SP51260,SP51265,SP51342,SP52020,SP52174,SP52329,SP52438,SP52590,SP52729,SP53196,SP53333,SP53440,SP53491,SP53515,SP53563,SP54043,SP54072,SP54480,SP54579,SP54583,SP54680,SP54857,SP54879,SP54937,SP55021,SP55436,SP55514,SP55694,SP55764,SP55820,SP56013,SP56047,SP56114,SP56330,SP56381,SP56458,SP56539,SP56805,SP56818,SP56856,SP56862,SP56863,SP57226,SP57299,SP57324,SP57368,SP57717,SP57860,SP57873,SP57875,SP58240,SP58416,SP81064,SP81135,SP81149,SP81228,SP81503,SP81512 nsv520891 6 31382359 31385967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697673 S 2026 0 1 "" dgv6544n71 6 31382359 31409637 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884160,nsv884159,nsv884235,nsv884266,nsv884176,nsv884174,nsv884190,nsv884219,nsv884233,nsv884204,nsv884203,nsv884177,nsv884189 M 6533 23 0 "" IS32282,IS34378,IS34393,IS34565,IS35180,IS35186,IS35510,IS35558,IS37775,IS38016,IS38309,IS38607,IS38959,IS40072,IS41818,SP52464,SP52772,SP56938,SP57148,SP57754,SP81168,SP81213,SP81526 dgv378n21 6 31382672 31390117 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523901,nsv528611 M 2026 2 0 "" dgv6545n71 6 31382672 31397263 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884184,nsv884227,nsv884168,nsv884213,nsv884226 M 6533 12 287 "" IS30109,IS30143,IS30149,IS30218,IS30222,IS30243,IS30270,IS30307,IS30567,IS30580,IS30589,IS30605,IS31021,IS31046,IS31067,IS31113,IS31117,IS31300,IS31330,IS31441,IS31564,IS31634,IS31651,IS31652,IS31706,IS31763,IS31765,IS31849,IS32006,IS32166,IS32803,IS32808,IS33129,IS33143,IS33148,IS33208,IS33576,IS33772,IS33795,IS33948,IS34005,IS34066,IS34092,IS34304,IS34429,IS34489,IS34497,IS34562,IS34658,IS34768,IS34779,IS34872,IS35174,IS35176,IS35181,IS35195,IS35196,IS35210,IS35240,IS35279,IS35372,IS35776,IS35824,IS35952,IS36049,IS36450,IS36787,IS36899,IS37064,IS37149,IS37248,IS37293,IS37329,IS37346,IS37503,IS37520,IS37543,IS37684,IS37801,IS37888,IS37946,IS37985,IS38030,IS38065,IS38092,IS38106,IS38114,IS38142,IS38148,IS38239,IS38270,IS38292,IS38367,IS38388,IS38411,IS38446,IS38486,IS38511,IS38520,IS38530,IS38627,IS38633,IS38645,IS38648,IS38671,IS38724,IS38743,IS38962,IS39090,IS39365,IS39372,IS39666,IS39786,IS40023,IS40055,IS40063,IS40086,IS40205,IS40264,IS40334,IS40349,IS40373,IS40433,IS40475,IS40495,IS40503,IS40521,IS40544,IS40556,IS40581,IS40627,IS40665,IS40676,IS40762,IS40843,IS40942,IS40955,IS40989,IS41128,IS41213,IS41224,IS41314,IS41340,IS41433,IS41782,IS41798,IS41883,IS41889,IS41894,IS41948,MS10127,MS10429,MS10574,MS11237,MS11641,MS12398,MS12461,MS13157,MS13358,MS13379,MS13621,MS13744,MS13774,MS13916,MS14289,MS14848,MS14978,MS15340,MS15385,MS15479,MS15643,MS15672,MS15709,MS15749,MS15813,MS15841,MS15907,MS15915,MS16124,MS16419,MS16455,MS16611,MS16774,MS16885,MS16932,MS17539,MS17605,MS17618,MS17705,MS17906,MS17958,MS18101,MS18212,MS18658,MS18853,MS19324,MS19372,MS19698,MS20204,MS20251,MS20640,MS20957,MS20969,MS20997,MS21020,MS21038,MS21538,MS21558,MS21677,MS22448,MS22797,MS23031,MS23194,MS23258,MS23486,MS23609,MS23942,MS24275,MS24280,MS24471,MS24479,MS24783,MS24839,MS25058,MS25294,MS25338,MS25373,MS25440,MS25750,MS25789,SP50061,SP50084,SP50126,SP50134,SP50520,SP50555,SP50691,SP50802,SP50832,SP50977,SP51035,SP51037,SP51042,SP51079,SP51109,SP51267,SP51296,SP51499,SP52025,SP52060,SP52224,SP52986,SP53859,SP53885,SP54110,SP54173,SP54214,SP54220,SP54350,SP54477,SP54490,SP54635,SP54891,SP55024,SP55269,SP55369,SP55405,SP55671,SP55807,SP55947,SP56029,SP56107,SP56172,SP56349,SP56396,SP56582,SP56773,SP57278,SP57379,SP57589,SP57599,SP57865,SP57986,SP58047,SP58202,SP58259,SP58575,SP80913,SP80937,SP80959,SP81046,SP81067,SP81085,SP81132,SP81187,SP81188,SP81198,SP81265,SP81363 dgv6546n71 6 31382672 31401219 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884172,nsv884216,nsv884199 M 6533 0 5 "" IS30245,IS31338,IS33076,IS34353,MS22022 dgv6547n71 6 31382672 31414516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884175,nsv884237,nsv884218 M 6533 0 4 "" IS30066,IS32841,IS38538,IS38987 dgv6548n71 6 31382672 31420305 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884236,nsv884178,nsv884206,nsv884239,nsv884267,nsv884247,nsv884268,nsv884249,nsv884248,nsv884205,nsv884238,nsv884179,nsv884221 M 6533 25 0 "" IS30814,IS31346,IS32602,IS33636,IS33959,IS34543,IS34687,IS35342,IS35768,IS36245,IS37546,IS38129,IS38349,IS38995,IS39022,IS40012,IS40703,IS41837,IS41981,SP53883,SP55107,SP56993,SP57600,SP57741,SP57774 nsv524261 6 31382672 31425326 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700158 S 2026 1 0 "" nsv516963 6 31383153 31422222 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667350,nssv653966,nssv656621,nssv674222,nssv666526,nssv678559,nssv667074,nssv692071,nssv657893,nssv675354,nssv675479,nssv688727,nssv670635,nssv667967,nssv656020,nssv653377,nssv692498,nssv691441,nssv668220,nssv677540,nssv671949,nssv681538,nssv660910,nssv670943,nssv680161,nssv666601,nssv673071,nssv693614,nssv682186,nssv675677,nssv667186,nssv679095,nssv678036,nssv657600,nssv652907,nssv674706,nssv683599,nssv662332,nssv670191,nssv691856,nssv672774,nssv692587,nssv677286,nssv691729,nssv674855,nssv681879,nssv692813,nssv667433,nssv684890,nssv660635,nssv659002,nssv663032,nssv673035,nssv651764,nssv686687,nssv680400,nssv672954,nssv686921,nssv672487,nssv665975,nssv675678,nssv665250,nssv662516,nssv685257,nssv652846,nssv677312,nssv654125,nssv659881,nssv662798,nssv685542,nssv667232,nssv691337,nssv659543,nssv656152,nssv691758,nssv693196,nssv670015,nssv688872,nssv665843,nssv663089,nssv658603,nssv682388,nssv689154,nssv678796,nssv654247,nssv675750,nssv676561,nssv681655,nssv661235,nssv664514,nssv691950,nssv680724,nssv677857,nssv676022,nssv656311,nssv674514,nssv671010,nssv656709,nssv668685,nssv681758,nssv690112,nssv662826,nssv653441,nssv682774,nssv657971,nssv686626,nssv659486,nssv653893,nssv685994,nssv671095,nssv657086,nssv689925,nssv663385,nssv671988,nssv663417,nssv672230,nssv662938,nssv678975,nssv693504,nssv685765,nssv680982,nssv682644,nssv669411,nssv666112,nssv660849,nssv682304,nssv688033,nssv693521,nssv660658,nssv692413,nssv655594,nssv657942,nssv681817,nssv670405,nssv654530,nssv690082,nssv670106,nssv692995,nssv686569,nssv654578,nssv664013,nssv657923,nssv689924,nssv685076,nssv660659,nssv687095,nssv671308,nssv694024,nssv686169,nssv676799,nssv671354,nssv670031,nssv670395,nssv654268,nssv674284,nssv665105,nssv682212,nssv668496,nssv683439,nssv687457,nssv689434,nssv686587,nssv662635,nssv666183,nssv693356,nssv687898,nssv675116,nssv684842,nssv660944,nssv670921,nssv672716,nssv675381,nssv652697,nssv665070,nssv691612,nssv655458,nssv656528,nssv678252,nssv693751,nssv655247,nssv652146,nssv657119,nssv666306,nssv690689,nssv681772,nssv682871,nssv681318,nssv668142,nssv689557,nssv663930,nssv662284,nssv689205,nssv655485,nssv655675,nssv659930,nssv689105,nssv654892,nssv684139,nssv686008 M 2026 13 186 "" nsv819482 6 31383242 31386392 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419513 S 2 0 1 "" AK1 dgv51n50 6 31383417 31387887 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511333,nsv511867 M 1 0 1 "" 1 esv33563 6 31383484 31561647 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101561,essv101437,essv98865,essv97590,essv97525,essv101274,essv101149,essv101195,essv101234,essv93957,essv93822,essv93962,essv100785,essv100882,essv96752,essv96812,essv100954,essv101003,essv100996,essv95126,essv95232,essv98329,essv98307,essv98213,essv98189,essv94700,essv94710,essv94713,essv94763,essv94118,essv94033,essv101354,essv101321,essv101310,essv94454,essv94427,essv94329,essv96942,essv97901,essv97831,essv97800,essv95678,essv95624,essv95440,essv95500,essv93163,essv93038,essv95350,essv95354,essv95368,essv95379,essv95276,essv97331,essv97316,essv97293,essv97446,essv101619,essv101756,essv101701,essv101685,essv95859,essv95810,essv95801,essv95921,essv94504,essv94602,essv98958,essv98943,essv99064,essv92854,essv92735,essv92794,essv93643,essv96159,essv96223,essv96668,essv96594,essv96581,essv97208,essv97211,essv97217,essv97102,essv98603,essv98613,essv98634,essv98641,essv100065,essv95984,essv96054,essv93590,essv93492,essv93415,essv93260,essv93204,essv99593,essv99577,essv99705,essv94884,essv94904,essv94933,essv94977,essv92637,essv92663,essv92573,essv98044,essv97981,essv97991,essv98016,essv96524,essv96428,essv99143,essv99224,essv99182,essv97689,essv97694,essv97756,essv100214,essv100221,essv100474,essv100571,essv100564,essv100341,essv99535,essv99511,essv99487,essv98522,essv98501,essv98495,essv98360,essv96413,essv96318,essv96284,essv96273,essv94164,essv94195,essv94178 M 51 50 31 HCG26,HCP5,HLA-B,MICA 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22335,22352,22371,22394 nsv823479 6 31383815 31384822 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429083 S 31 0 1 "" AK12 nsv823480 6 31383815 31386601 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436653,nssv1432893,nssv1438172,nssv1438862 M 31 0 4 "" NA18542,NA18951,NA18972,NA18973 dgv1007n67 6 31383815 31394094 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823481,nsv823482 M 31 0 3 "" AK2,NA18537,NA18968 dgv6549n71 6 31383825 31394360 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884210,nsv884192,nsv884222,nsv884182,nsv884224,nsv884225 M 6533 12 48 "" IS30211,IS30280,IS30352,IS31118,IS31879,IS31991,IS33055,IS33575,IS33577,IS34271,IS35129,IS35245,IS35271,IS35385,IS35428,IS36117,IS36442,IS36465,IS37415,IS37452,IS37860,IS38108,IS38241,IS38242,IS38265,IS38410,IS38449,IS38544,IS39676,IS41305,MS10391,MS10626,MS12577,MS13500,MS14266,MS14805,MS15014,MS17235,MS17421,MS17438,MS17609,MS19638,MS21262,MS23542,SP50077,SP50080,SP50571,SP50604,SP50608,SP52064,SP53184,SP56224,SP56301,SP56390,SP56811,SP56843,SP81354,SP81452,SP81454,SP81507 dgv6550n71 6 31383825 31404659 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884230,nsv884231,nsv884188,nsv884232,nsv884202,nsv884229 M 6533 31 84 "" IS30096,IS30322,IS30412,IS30593,IS30720,IS31044,IS31218,IS31487,IS31581,IS31812,IS32990,IS33545,IS33587,IS33788,IS33887,IS34356,IS34510,IS34700,IS34749,IS34760,IS35127,IS35236,IS35380,IS35506,IS35742,IS35949,IS36893,IS37498,IS37734,IS37861,IS37974,IS38266,IS38440,IS38490,IS38575,IS38637,IS39011,IS39325,IS39360,IS39530,IS40124,IS40416,IS40577,IS40748,IS40818,IS40874,IS41051,IS41404,IS41549,IS41913,MS10064,MS10330,MS12734,MS13241,MS13390,MS13517,MS13808,MS14035,MS14804,MS15008,MS15102,MS15926,MS16965,MS18756,MS18843,MS18916,MS18935,MS20670,MS22013,MS23257,MS23670,MS23714,MS24021,MS24219,MS24330,MS24747,MS25968,SP50575,SP50843,SP51192,SP51449,SP52234,SP52351,SP52369,SP52574,SP52612,SP52851,SP52955,SP53332,SP53342,SP53425,SP53596,SP53969,SP54090,SP54107,SP54119,SP54134,SP54606,SP54822,SP55086,SP55122,SP55407,SP55542,SP55551,SP55797,SP55914,SP56104,SP56899,SP56922,SP57147,SP57160,SP57553,SP58387,SP81203,SP81409 dgv6551n71 6 31383825 31407718 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884191,nsv884220,nsv884234,nsv884265,nsv884246 M 6533 33 10 "" IS30479,IS30668,IS32329,IS32817,IS33590,IS34491,IS34772,IS37664,IS38119,IS38577,IS38600,IS40003,IS40247,IS40877,IS41008,IS41908,MS11054,MS15997,MS21275,MS21674,SP51179,SP51391,SP52017,SP52475,SP53252,SP53303,SP53368,SP53734,SP54123,SP54621,SP54652,SP54753,SP55146,SP55223,SP56788,SP56904,SP56947,SP57009,SP57217,SP57734,SP58180,SP58537,SP81554 dgv1008n67 6 31384687 31386601 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823488,nsv823484,nsv823489,nsv823483,nsv823486,nsv823485 M 31 0 11 "" AK10,AK12,AK14,AK16,AK4,AK8,NA18552,NA18592,NA18942,NA18969,NA18999 esv993540 6 31384750 31386601 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586896 S 3 1 0 "" HuRef essv7464 6 31385149 31388921 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18633 dgv1925e1 6 31385149 31392153 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv969,essv6529,essv5771,essv17405,essv7494,essv6495 M 271 0 0 "" NA12760,NA18540,NA18561,NA18611,NA18636,NA18981 nsv437964 6 31385347 31390000 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468739,nssv468742,nssv468737,nssv468744,nssv468738,nssv468743 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18500,NA18502,NA19119,NA19120,NA19201,NA19202 dgv6552n71 6 31385719 31394226 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884211,nsv884209,nsv884208 M 6533 4 0 "" IS37820,SP53240,SP55055,SP81119 dgv6553n71 6 31385719 31398785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884212,nsv884251,nsv884244 M 6533 0 9 "" IS33372,IS33651,IS35771,IS37523,MS15805,MS21937,MS23236,MS23626,SP55167 nsv818404 6 31385967 31390117 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417120 S 112 0 1 "" NA18537 nsv884223 6 31385967 31393271 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501842,nssv1499197 M 6533 0 2 "" SP50116,SP51007 dgv6554n71 6 31385967 31425003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884240,nsv884298,nsv884294 M 6533 3 0 "" IS37446,IS40309,IS40643 dgv744n27 6 31385967 31428789 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462804,nsv462756 M 1557 0 2 "" 1780854065_A,1780862403_A dgv1009n67 6 31386393 31418253 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823494,nsv823490 M 31 0 5 "" AK18,AK6,NA18564,NA18582,NA18997 nsv823491 6 31387332 31390381 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440229 S 31 0 1 "" NA18547 dgv1010n67 6 31387332 31395530 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823492,nsv823493 M 31 0 2 "" NA18526,NA18547 esv1008150 6 31387332 31418253 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587039 S 3 0 1 "" HuRef esv273972 6 31387382 31389066 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581185 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1000316 6 31387412 31396668 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586160 S 3 0 1 "" HuRef nsv884241 6 31388080 31394360 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584616 S 6533 1 0 "" IS37088 dgv6555n71 6 31388080 31398785 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884256,nsv884258,nsv884243,nsv884242,nsv884269,nsv884252,nsv884253,nsv884257 M 6533 35 305 "" IS30152,IS30181,IS30308,IS30434,IS30459,IS30504,IS31070,IS31372,IS31554,IS31816,IS31825,IS31832,IS32382,IS32523,IS32686,IS32697,IS32763,IS32864,IS33070,IS33175,IS33232,IS33262,IS33393,IS33406,IS33566,IS33580,IS33726,IS33857,IS34011,IS34387,IS34416,IS34472,IS34791,IS34895,IS35088,IS35145,IS35167,IS35260,IS35561,IS35624,IS35765,IS35880,IS35972,IS36103,IS36179,IS36475,IS36552,IS36727,IS36854,IS36909,IS36957,IS36981,IS37157,IS37194,IS37214,IS37294,IS37337,IS37404,IS37612,IS37645,IS37738,IS37991,IS38047,IS38055,IS38060,IS38113,IS38170,IS38263,IS38397,IS38455,IS38465,IS38579,IS38591,IS38610,IS38612,IS38635,IS38644,IS38669,IS38804,IS38810,IS39352,IS39361,IS39369,IS39388,IS39399,IS39532,IS39647,IS39745,IS39750,IS39999,IS40024,IS40291,IS40292,IS40342,IS40471,IS40582,IS40678,IS40680,IS40729,IS40839,IS40872,IS40920,IS40947,IS40950,IS40990,IS41068,IS41296,IS41347,IS41511,IS41729,IS41788,IS41825,IS41830,IS41870,MS10098,MS10106,MS10169,MS10183,MS10401,MS10535,MS10549,MS10784,MS10983,MS11257,MS11505,MS11550,MS12138,MS12170,MS12281,MS12493,MS12602,MS12727,MS12868,MS12972,MS13448,MS14313,MS14324,MS14416,MS14526,MS14544,MS15199,MS15277,MS15487,MS15867,MS15877,MS16008,MS16168,MS16214,MS16308,MS16347,MS16643,MS16667,MS16693,MS16697,MS17014,MS17203,MS17278,MS17773,MS18003,MS18159,MS18192,MS18387,MS18406,MS18436,MS18537,MS18677,MS18784,MS18803,MS18821,MS18830,MS18966,MS18978,MS19003,MS19438,MS19466,MS19571,MS19652,MS20288,MS20771,MS21036,MS21308,MS21449,MS21517,MS21820,MS21840,MS21857,MS22076,MS22227,MS22297,MS22338,MS22411,MS22568,MS23163,MS23472,MS24032,MS24187,MS24193,MS24250,MS24439,MS24477,MS24651,MS24837,MS25275,MS25439,MS25471,MS25529,MS25603,MS25745,MS25755,MS25888,MS25946,MS26121,SP50109,SP50145,SP50148,SP50170,SP50183,SP50522,SP50523,SP50597,SP50612,SP50627,SP50629,SP50634,SP50652,SP50700,SP50775,SP50805,SP50850,SP50855,SP51056,SP51067,SP51256,SP51257,SP51264,SP51279,SP51292,SP51469,SP51485,SP51493,SP52019,SP52110,SP52122,SP52175,SP52264,SP52297,SP52328,SP52409,SP52416,SP52559,SP52587,SP52676,SP52704,SP52787,SP52800,SP52859,SP52863,SP52881,SP52886,SP52893,SP52913,SP53051,SP53399,SP53412,SP53503,SP53560,SP53821,SP53838,SP54057,SP54092,SP54139,SP54367,SP54509,SP54685,SP54704,SP54832,SP54894,SP54921,SP55010,SP55041,SP55092,SP55349,SP55388,SP55463,SP55660,SP55822,SP55886,SP55915,SP55966,SP55971,SP56002,SP56012,SP56085,SP56173,SP56246,SP56370,SP56633,SP56653,SP56832,SP56882,SP56960,SP56995,SP57008,SP57058,SP57188,SP57205,SP57376,SP57449,SP57640,SP57654,SP57673,SP57679,SP57700,SP57950,SP58003,SP58164,SP58218,SP58433,SP80919,SP80980,SP81019,SP81060,SP81077,SP81092,SP81097,SP81108,SP81158,SP81161,SP81243,SP81333,SP81385,SP81403,SP81437,SP81440,SP81461,SP81464,SP81505,SP81536,SP81553,SP81556 dgv6556n71 6 31388080 31403505 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884245,nsv884259,nsv884261,nsv884262,nsv884260,nsv884275 M 6533 29 33 "" IS34397,IS34432,IS35461,IS35499,IS35545,IS36011,IS36051,IS36423,IS36911,IS37238,IS37891,IS37995,IS38582,IS39637,IS39687,IS40326,IS40415,IS40570,IS40606,IS41576,IS41737,IS41920,MS10204,MS11064,MS11632,MS12787,MS12946,MS13605,MS14304,MS14368,MS14728,MS15596,MS19556,MS20854,MS21457,MS21458,MS21722,MS23720,MS24272,MS24919,MS25675,MS26144,SP50120,SP50176,SP50559,SP50622,SP51387,SP53154,SP53256,SP53260,SP54317,SP54383,SP54389,SP54682,SP55022,SP55348,SP55683,SP55684,SP55791,SP56663,SP57268,SP58581 esv2421814 6 31388080 31405690 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5160212,essv5082861,essv5066388,essv5082602,essv5125061,essv5011401,essv5126253,essv5018488,essv5045551,essv5030849,essv5070274,essv5103571,essv5026285,essv5076453,essv5051810,essv5011989,essv5119261,essv5004577,essv5094367,essv5154201,essv5075991,essv5013311,essv5106608,essv5006340,essv5036532,essv5096223,essv5036297,essv5043188,essv5051648,essv5030887,essv5024470,essv5113736,essv5034283,essv5119230,essv5129057,essv5117821,essv5134166,essv5154969,essv5107822,essv5151142,essv5142917,essv5092132,essv5137052,essv5037960,essv5113902,essv5022233,essv5109528,essv5081367,essv5158659,essv5043554,essv5146210,essv5101731,essv5063381,essv5027282,essv5148512,essv5066458,essv5144282,essv5021545,essv5054435,essv5070162,essv5103575,essv5017043,essv5083093,essv5110030,essv5014965,essv5015682,essv5130425,essv5024342,essv5046130,essv5018816,essv5059870,essv5104212,essv5028720,essv5089848,essv5074824,essv5020324,essv5024009,essv5098139,essv5018418,essv5041566,essv5012602,essv5123344,essv5101562,essv5151946,essv5086996,essv5103786,essv5158751,essv5051043,essv5147534,essv5104585,essv5075950,essv5097395,essv5024585,essv5136315,essv5013161,essv5100206,essv5061492,essv5075857,essv5116994,essv5155926,essv5093277,essv5032318,essv5060821,essv5102963,essv5081395,essv5090601,essv5119269,essv5121123,essv5087444,essv5106277,essv5015048,essv5160324,essv5004895,essv5108456,essv5016703,essv5141496,essv5093021,essv5034940,essv5096931,essv5084112,essv5041886,essv5106662,essv5101727,essv5152606,essv5033883,essv5090352,essv5075786,essv5119903,essv5057779,essv5018220,essv5107390,essv5113130,essv5149549,essv5051205,essv5071247,essv5014601,essv5103609,essv5060572,essv5096911,essv5079083,essv5117924,essv5084418,essv5094712,essv5009510,essv5127578,essv5048510,essv5135660,essv5013441,essv5002638,essv5039539,essv5093343,essv5153411,essv5023251,essv5138732,essv5129805,essv5118282,essv5003533,essv5022630,essv5145293,essv5101053,essv5098829,essv5065207,essv5146357,essv5036968,essv5059362,essv5118397,essv5133826,essv5136149,essv5044141,essv5135405,essv5114021,essv5115515,essv5030732,essv5133823,essv5066750,essv5128496,essv5096405,essv5095790,essv5108602,essv5138827,essv5106303,essv5038609,essv5010822,essv5154899,essv5059173,essv5062579,essv5050858,essv5144008,essv5010511,essv5036681,essv5055431,essv5110885,essv5086904,essv5156770,essv5069125,essv5078214,essv5140797,essv5075711,essv5061182,essv5119656,essv5056660,essv5046190,essv5106746,essv5035024,essv5143718,essv5010864,essv5057378,essv5051567,essv5065122,essv5033025,essv5063996,essv5156414,essv5130510,essv5023599,essv5007416,essv5089972,essv5154872,essv5027760,essv5072494,essv5013495,essv5157934,essv5047506,essv5122653,essv5094065,essv5137542,essv5044172,essv5069004,essv5133706,essv5146308,essv5066512,essv5152061,essv5062762,essv5066123,essv5075696,essv5081402,essv5113386,essv5025355,essv5070370,essv5142586,essv5024327,essv5022831,essv5134949,essv5054665,essv5015297,essv5081329,essv5126645,essv5092902,essv5080855,essv5066278,essv5064601,essv5061971,essv5124666,essv5046672,essv5080250,essv5003584,essv5056693,essv5081777,essv5111302,essv5020955,essv5023281,essv5147599,essv5147481,essv5058446,essv5104120,essv5008481,essv5129527,essv5103735,essv5096592,essv5072492,essv5147762,essv5114237,essv5132039,essv5074129,essv5117603,essv5066247,essv5022061,essv5142335,essv5151373,essv5107062,essv5078678,essv5083892,essv5071306,essv5135918,essv5118014,essv5136563,essv5095112,essv5131803,essv5032909,essv5014365,essv5048132,essv5050036,essv5153719,essv5081821,essv5082059,essv5073507,essv5021343,essv5143705,essv5005984,essv5051147,essv5131957,essv5045553,essv5106755,essv5050669,essv5125887,essv5091967,essv5089833,essv5062463,essv5064053,essv5029112,essv5019126,essv5045650,essv5090630,essv5006409,essv5131591,essv5040032,essv5141336,essv5133287,essv5061104,essv5134782,essv5002133,essv5147372,essv5019631,essv5091195,essv5123390,essv5032664,essv5141062,essv5074336,essv5150218,essv5160686,essv5159501 M 1184 0 330 "" NA06984,NA06985,NA07056,NA07345,NA07357,NA10839,NA10840,NA10845,NA10847,NA10852,NA10853,NA10859,NA10861,NA10865,NA11840,NA11882,NA11892,NA11919,NA11930,NA11995,NA12003,NA12006,NA12043,NA12156,NA12239,NA12282,NA12283,NA12286,NA12343,NA12344,NA12348,NA12383,NA12546,NA12813,NA12818,NA12827,NA12830,NA12864,NA12865,NA12873,NA12875,NA17965,NA17968,NA17975,NA17977,NA17979,NA17981,NA17986,NA17989,NA17990,NA17993,NA17995,NA17997,NA17998,NA18102,NA18106,NA18120,NA18131,NA18138,NA18143,NA18144,NA18147,NA18149,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18160,NA18166,NA18487,NA18504,NA18518,NA18526,NA18532,NA18536,NA18545,NA18557,NA18558,NA18559,NA18561,NA18564,NA18582,NA18593,NA18599,NA18603,NA18605,NA18609,NA18611,NA18612,NA18615,NA18616,NA18620,NA18623,NA18624,NA18626,NA18631,NA18637,NA18638,NA18642,NA18645,NA18647,NA18674,NA18685,NA18696,NA18704,NA18740,NA18745,NA18749,NA18868,NA18934,NA18939,NA18945,NA18948,NA18959,NA18968,NA18974,NA18993,NA18997,NA19000,NA19002,NA19005,NA19028,NA19036,NA19038,NA19041,NA19044,NA19058,NA19065,NA19077,NA19098,NA19107,NA19174,NA19182,NA19309,NA19311,NA19327,NA19332,NA19360,NA19371,NA19376,NA19384,NA19391,NA19394,NA19396,NA19397,NA19399,NA19404,NA19429,NA19430,NA19436,NA19439,NA19446,NA19448,NA19456,NA19463,NA19471,NA19473,NA19474,NA19625,NA19649,NA19650,NA19660,NA19662,NA19664,NA19665,NA19670,NA19671,NA19675,NA19679,NA19681,NA19682,NA19683,NA19685,NA19722,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19756,NA19759,NA19760,NA19783,NA19784,NA19789,NA19790,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19908,NA19919,NA20127,NA20128,NA20337,NA20345,NA20504,NA20505,NA20506,NA20508,NA20509,NA20519,NA20522,NA20530,NA20538,NA20581,NA20582,NA20586,NA20753,NA20757,NA20760,NA20770,NA20771,NA20775,NA20783,NA20787,NA20795,NA20800,NA20803,NA20804,NA20810,NA20812,NA20826,NA20849,NA20850,NA20851,NA20853,NA20858,NA20859,NA20862,NA20869,NA20873,NA20874,NA20875,NA20877,NA20883,NA20887,NA20889,NA20891,NA20899,NA20907,NA20908,NA20910,NA20911,NA21086,NA21090,NA21091,NA21092,NA21094,NA21101,NA21104,NA21106,NA21108,NA21109,NA21113,NA21118,NA21119,NA21123,NA21143,NA21144,NA21297,NA21316,NA21317,NA21318,NA21320,NA21333,NA21355,NA21356,NA21359,NA21361,NA21362,NA21363,NA21367,NA21381,NA21383,NA21384,NA21385,NA21386,NA21388,NA21389,NA21390,NA21403,NA21404,NA21405,NA21420,NA21421,NA21423,NA21425,NA21436,NA21439,NA21441,NA21442,NA21447,NA21448,NA21454,NA21479,NA21480,NA21485,NA21487,NA21509,NA21513,NA21514,NA21520,NA21521,NA21526,NA21527,NA21528,NA21573,NA21575,NA21576,NA21582,NA21583,NA21597,NA21599,NA21685,NA21686,NA21689,NA21733,NA21784,NA21826 esv2421676 6 31388080 31449319 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017649,essv5060127,essv5042062,essv5091919,essv5018989,essv5104911,essv5121732,essv5157309,essv5012312,essv5141261,essv5022514,essv5148729,essv5033731,essv5122711,essv5025623,essv5045063,essv5137043,essv5112190,essv5076381,essv5146359,essv5127480,essv5125718,essv5067742,essv5005540,essv5020549,essv5076265,essv5041301,essv5106468,essv5126793,essv5045768,essv5011881,essv5053060,essv5008887,essv5098130,essv5060743,essv5140276,essv5113632,essv5130887,essv5038366,essv5119995,essv5057061,essv5077013,essv5084618,essv5019124,essv5083960,essv5054066,essv5099225,essv5050559,essv5019318,essv5138587,essv5091850,essv5076478,essv5105343,essv5158543,essv5041891,essv5051263,essv5036914,essv5160521,essv5086472,essv5009079,essv5111837,essv5106848,essv5108062,essv5106355,essv5134286,essv5055712,essv5127506,essv5046127,essv5155848,essv5094161,essv5004844,essv5073076,essv5019950,essv5076409,essv5032421,essv5086475,essv5032392,essv5043316,essv5004010,essv5143702,essv5126129,essv5007299,essv5129942,essv5073853,essv5020256,essv5095618,essv5124748,essv5152398,essv5092071,essv5118284,essv5015972,essv5095959,essv5023800,essv5083426,essv5134432,essv5077782,essv5126174,essv5056702,essv5043628,essv5004799,essv5094524,essv5062804,essv5022829,essv5077453,essv5028801,essv5048273,essv5012675,essv5084651,essv5054399,essv5029479,essv5144471,essv5097709,essv5006631,essv5108772,essv5008898,essv5095457,essv5127928,essv5080838,essv5025987,essv5152480,essv5070214,essv5003968,essv5009025,essv5159681,essv5083716,essv5029857,essv5003270,essv5101584,essv5029748,essv5033493,essv5066726,essv5099237,essv5138567,essv5059860,essv5039592,essv5138686,essv5050444,essv5124736,essv5141084,essv5014367,essv5104045,essv5004296,essv5106549,essv5092833,essv5011138,essv5042844,essv5128310,essv5011406,essv5055890,essv5008025,essv5010182,essv5021423,essv5024300,essv5036916,essv5029211,essv5047091,essv5015053,essv5061873,essv5094653,essv5068187,essv5112229,essv5097206,essv5041373,essv5035999,essv5061308,essv5001981,essv5089311,essv5055214,essv5087607,essv5154066,essv5091783,essv5079826,essv5155710,essv5106723,essv5069743,essv5108118,essv5102725,essv5041623,essv5138081,essv5062433,essv5080278,essv5031383,essv5151404,essv5095585,essv5015803,essv5144978,essv5019357,essv5013394,essv5118033,essv5051173,essv5007843,essv5142780,essv5123450,essv5106265,essv5054387,essv5007709,essv5144119,essv5144945,essv5013203,essv5017040,essv5138869,essv5032337,essv5014143,essv5079500,essv5007544,essv5117204,essv5154661,essv5077733,essv5137913,essv5094258,essv5060392,essv5156391,essv5105536,essv5060877,essv5114078,essv5084258,essv5057037,essv5071668,essv5073703,essv5073202,essv5056171,essv5100077,essv5076890,essv5010978,essv5109365,essv5016401,essv5054190,essv5090391,essv5118309,essv5140270,essv5155685,essv5042212,essv5117622,essv5156530,essv5018832,essv5122990,essv5080939,essv5103810,essv5148051,essv5044485,essv5062823,essv5101834,essv5082055,essv5038075,essv5052499,essv5090719,essv5136747,essv5103498,essv5135737,essv5043379,essv5112454,essv5134222,essv5151560,essv5152847,essv5151689,essv5008449,essv5119413,essv5053652,essv5157148,essv5144372,essv5147025,essv5114794,essv5041712,essv5050706,essv5109805,essv5117579,essv5040196,essv5103723,essv5117116,essv5081561,essv5044526,essv5014833,essv5045622,essv5038103,essv5091809,essv5043082,essv5147673,essv5071683,essv5113959,essv5129726,essv5100556,essv5086507,essv5051006,essv5004722,essv5102629,essv5078273,essv5042266,essv5134078,essv5046025,essv5089143,essv5003678,essv5059373,essv5158463,essv5065735,essv5119127,essv5017792,essv5059940,essv5121938,essv5081747,essv5121657,essv5060242,essv5040197,essv5030565,essv5155096,essv5138004,essv5150899,essv5036783,essv5005769,essv5097506,essv5011254,essv5018124,essv5041696,essv5035707,essv5137280,essv5021425,essv5064035,essv5071759,essv5062544,essv5077440,essv5074020,essv5139165,essv5002566,essv5090460,essv5136314,essv5114924,essv5087488,essv5021276,essv5021769,essv5004893,essv5111144,essv5089595,essv5085006,essv5151566,essv5022940,essv5009845,essv5139534,essv5030115,essv5070507,essv5143716,essv5039315,essv5087186,essv5058274,essv5069072,essv5101771,essv5112460,essv5131696,essv5060398,essv5025004,essv5034077,essv5044823,essv5076439,essv5073052,essv5095379,essv5080658,essv5103731,essv5084720,essv5128828,essv5066645,essv5111634,essv5082027,essv5033559,essv5120832,essv5117380,essv5099955,essv5157858,essv5149752,essv5084666,essv5159124,essv5160242,essv5062909,essv5039116,essv5098113,essv5020826,essv5026541,essv5115314,essv5043758,essv5068955,essv5013324,essv5020545,essv5055917,essv5022328,essv5032445,essv5051389,essv5020858,essv5106667,essv5043289,essv5045303,essv5149186,essv5021241,essv5093036,essv5105242,essv5092096,essv5096059,essv5056195,essv5034371,essv5005711,essv5073522,essv5011965,essv5041619,essv5002697,essv5086994,essv5026191,essv5054529,essv5084850,essv5002390,essv5013075,essv5025792,essv5159038,essv5011114,essv5013823,essv5092067,essv5015504,essv5070923,essv5125184,essv5149438,essv5075460,essv5063153,essv5054117,essv5152251,essv5136069,essv5052340,essv5089700,essv5129585,essv5074456,essv5137390,essv5120477,essv5084286,essv5107417,essv5156734,essv5019321,essv5018822,essv5066120,essv5003228,essv5093645,essv5065084,essv5104268,essv5112407,essv5040779,essv5132802,essv5131826,essv5112352,essv5128882,essv5151100,essv5041268,essv5009751,essv5002985,essv5071574,essv5011996,essv5109988,essv5052191,essv5104638,essv5158935,essv5107297,essv5122512,essv5116473,essv5138366,essv5067357,essv5108133,essv5020743,essv5049747,essv5130272,essv5046426,essv5043788,essv5110637,essv5053164,essv5031712,essv5147740,essv5144162,essv5037220,essv5137860,essv5157851,essv5046345,essv5095515,essv5111739,essv5144812,essv5025782,essv5058065,essv5002263,essv5003084,essv5078398,essv5098858,essv5094509,essv5053153,essv5065271,essv5104402,essv5135085,essv5139188,essv5042020,essv5105295,essv5098932,essv5010553,essv5054928,essv5110173,essv5146038,essv5066507,essv5122384,essv5019864,essv5077441,essv5023172,essv5115071,essv5074087,essv5088086,essv5011130,essv5131256,essv5139523,essv5148543,essv5137223,essv5077908,essv5152844,essv5130320,essv5147797,essv5145181,essv5090107,essv5115357,essv5149364,essv5096733,essv5153804,essv5147910,essv5059907,essv5040232,essv5006864,essv5071806,essv5078245,essv5029605,essv5070845,essv5139736,essv5146430,essv5132171,essv5026574,essv5064130,essv5025501,essv5113531,essv5133160,essv5082403,essv5019539,essv5024254,essv5064749,essv5008982,essv5103184,essv5056748,essv5078252,essv5148099,essv5070368,essv5078689,essv5005346,essv5015831,essv5134765,essv5141056,essv5075075,essv5088174,essv5021082,essv5117050,essv5012471,essv5046086,essv5118568,essv5092545,essv5074669,essv5023884,essv5072416,essv5065931,essv5139160,essv5021753,essv5027747,essv5108610,essv5123453,essv5071011,essv5102536,essv5156825,essv5124991,essv5123198,essv5061454,essv5052828,essv5082634,essv5125251,essv5128963,essv5008380,essv5031660,essv5057870,essv5055001,essv5034803,essv5028964,essv5125307,essv5066526,essv5147799,essv5036882,essv5010996,essv5063838,essv5027346,essv5124663,essv5101184,essv5055330,essv5158724,essv5158601,essv5011143,essv5157436,essv5100397,essv5101842,essv5114202,essv5086145,essv5091326,essv5142532,essv5013246,essv5018108,essv5109645,essv5024759,essv5128356,essv5061359,essv5156209,essv5101285,essv5118006,essv5108334,essv5138446,essv5080961,essv5061275,essv5089121,essv5060429,essv5119594,essv5064732,essv5082652,essv5018245,essv5011675,essv5023074,essv5005136,essv5157799,essv5007289,essv5017133,essv5082011,essv5049060,essv5160613,essv5046828,essv5129384,essv5150138,essv5109476,essv5006193,essv5115140,essv5143838,essv5106994,essv5128638,essv5052684,essv5130969,essv5070675,essv5004150,essv5097494,essv5088381,essv5119619,essv5151134,essv5145631,essv5047618,essv5012847,essv5131085,essv5055617,essv5067231,essv5121642,essv5135772,essv5122480,essv5111377,essv5151828,essv5035350,essv5045881,essv5096561,essv5024867,essv5051068,essv5022083,essv5061820,essv5094569,essv5021469,essv5098886,essv5022712,essv5107611,essv5099815,essv5038540,essv5012815,essv5144406,essv5109441,essv5146179,essv5094344,essv5147968,essv5074389,essv5088853,essv5146774,essv5152332,essv5153022,essv5060484,essv5038573,essv5112875,essv5077671,essv5155931,essv5143604,essv5057925,essv5131217,essv5119997,essv5071747,essv5128522,essv5040334,essv5008322,essv5106986,essv5066158,essv5039120,essv5067120,essv5039411,essv5102453,essv5006007,essv5063192,essv5083262,essv5072671,essv5106262,essv5064193,essv5038719,essv5134143,essv5131443,essv5009217,essv5067383,essv5086341,essv5007256,essv5013380,essv5041216,essv5012491,essv5076036,essv5130756,essv5082340,essv5028760,essv5136344,essv5071319,essv5071573,essv5143815,essv5037906,essv5047959,essv5007074,essv5147670,essv5063399,essv5118774,essv5036636,essv5003503,essv5006371,essv5155659,essv5145615,essv5125115,essv5093160,essv5133008,essv5037442,essv5040487,essv5112750,essv5075709,essv5107502,essv5148353,essv5121178,essv5084239,essv5146136,essv5105608 M 1184 537 212 HLA-B NA06984,NA06989,NA06991,NA07000,NA07014,NA07022,NA07029,NA07031,NA07045,NA07051,NA07055,NA07056,NA07347,NA07349,NA07357,NA07435,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10846,NA10847,NA10852,NA10853,NA10854,NA10856,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12144,NA12146,NA12234,NA12239,NA12248,NA12249,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12343,NA12344,NA12348,NA12375,NA12376,NA12386,NA12399,NA12400,NA12413,NA12707,NA12708,NA12716,NA12718,NA12739,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12776,NA12777,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12827,NA12828,NA12829,NA12830,NA12832,NA12843,NA12864,NA12865,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12891,NA12892,NA17962,NA17966,NA17967,NA17968,NA17970,NA17972,NA17979,NA17981,NA17982,NA17987,NA17988,NA17993,NA17995,NA17996,NA17999,NA18101,NA18102,NA18105,NA18106,NA18108,NA18109,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18151,NA18153,NA18156,NA18158,NA18159,NA18161,NA18162,NA18166,NA18487,NA18500,NA18501,NA18503,NA18504,NA18505,NA18509,NA18515,NA18517,NA18524,NA18529,NA18542,NA18543,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18562,NA18563,NA18564,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18602,NA18605,NA18608,NA18609,NA18613,NA18614,NA18617,NA18620,NA18621,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18637,NA18639,NA18640,NA18641,NA18643,NA18645,NA18670,NA18682,NA18694,NA18696,NA18702,NA18740,NA18748,NA18749,NA18757,NA18857,NA18858,NA18859,NA18861,NA18862,NA18863,NA18870,NA18872,NA18874,NA18875,NA18910,NA18911,NA18913,NA18914,NA18916,NA18924,NA18930,NA18940,NA18942,NA18943,NA18944,NA18946,NA18949,NA18951,NA18952,NA18953,NA18955,NA18956,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18969,NA18970,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19001,NA19005,NA19007,NA19010,NA19027,NA19028,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19078,NA19079,NA19083,NA19085,NA19086,NA19087,NA19094,NA19095,NA19098,NA19099,NA19108,NA19113,NA19114,NA19116,NA19119,NA19120,NA19122,NA19127,NA19128,NA19129,NA19137,NA19138,NA19139,NA19140,NA19142,NA19146,NA19147,NA19149,NA19151,NA19152,NA19153,NA19154,NA19159,NA19161,NA19176,NA19178,NA19180,NA19181,NA19182,NA19190,NA19191,NA19198,NA19200,NA19201,NA19202,NA19204,NA19209,NA19211,NA19213,NA19235,NA19237,NA19238,NA19240,NA19248,NA19249,NA19256,NA19258,NA19307,NA19309,NA19314,NA19318,NA19327,NA19328,NA19332,NA19346,NA19352,NA19359,NA19360,NA19371,NA19382,NA19384,NA19385,NA19390,NA19393,NA19396,NA19397,NA19404,NA19429,NA19430,NA19431,NA19434,NA19436,NA19437,NA19438,NA19439,NA19444,NA19446,NA19449,NA19455,NA19456,NA19457,NA19463,NA19466,NA19468,NA19474,NA19625,NA19649,NA19650,NA19651,NA19654,NA19656,NA19660,NA19661,NA19663,NA19664,NA19669,NA19676,NA19677,NA19678,NA19680,NA19681,NA19682,NA19683,NA19684,NA19686,NA19700,NA19701,NA19702,NA19703,NA19708,NA19713,NA19716,NA19718,NA19720,NA19721,NA19723,NA19724,NA19725,NA19727,NA19746,NA19748,NA19749,NA19751,NA19755,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19908,NA19919,NA19921,NA19982,NA19985,NA20126,NA20127,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20291,NA20292,NA20294,NA20297,NA20322,NA20334,NA20336,NA20337,NA20340,NA20341,NA20343,NA20345,NA20346,NA20348,NA20350,NA20356,NA20357,NA20358,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20531,NA20535,NA20538,NA20539,NA20540,NA20542,NA20544,NA20582,NA20586,NA20589,NA20753,NA20756,NA20758,NA20759,NA20760,NA20761,NA20766,NA20768,NA20771,NA20772,NA20773,NA20774,NA20775,NA20785,NA20786,NA20787,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20803,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20812,NA20813,NA20815,NA20816,NA20819,NA20826,NA20828,NA20849,NA20850,NA20851,NA20852,NA20853,NA20856,NA20858,NA20859,NA20862,NA20866,NA20869,NA20873,NA20879,NA20882,NA20883,NA20884,NA20885,NA20887,NA20890,NA20891,NA20895,NA20896,NA20901,NA20903,NA20910,NA20911,NA21086,NA21089,NA21090,NA21091,NA21094,NA21097,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21112,NA21113,NA21117,NA21119,NA21123,NA21125,NA21141,NA21143,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21313,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21357,NA21360,NA21365,NA21367,NA21368,NA21370,NA21371,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21389,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21408,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21434,NA21435,NA21436,NA21439,NA21441,NA21442,NA21447,NA21448,NA21451,NA21454,NA21457,NA21473,NA21476,NA21477,NA21480,NA21486,NA21489,NA21491,NA21509,NA21510,NA21512,NA21514,NA21519,NA21521,NA21523,NA21524,NA21525,NA21528,NA21529,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21583,NA21596,NA21597,NA21601,NA21608,NA21611,NA21615,NA21616,NA21617,NA21631,NA21634,NA21648,NA21650,NA21678,NA21683,NA21685,NA21689,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 dgv6557n71 6 31388175 31394360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884250,nsv884255 M 6533 0 9 "" IS33771,IS38281,MS15382,SP52080,SP52161,SP54006,SP55539,SP57856,SP81255 dgv6558n71 6 31388175 31404659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884263,nsv884254 M 6533 0 6 "" IS32538,IS34310,IS36183,MS12986,MS24135,SP53392 dgv6559n71 6 31388306 31409637 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884288,nsv884281,nsv884280,nsv884293,nsv884291,nsv884292,nsv884284,nsv884285,nsv884271,nsv884264,nsv884272 M 6533 18 0 "" IS30532,IS35349,IS38444,IS39929,IS41041,MS10195,MS10999,MS12466,MS13351,MS13716,MS16228,MS16398,MS18248,MS18598,SP52381,SP54999,SP56248,SP81024 nsv514348 6 31389372 31390452 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627797 S 1414 0 1 "" dgv6560n71 6 31389417 31404659 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884283,nsv884282,nsv884286,nsv884295,nsv884290,nsv884270,nsv884276,nsv884279,nsv884278 M 6533 15 0 "" IS30824,IS37687,IS38145,IS41824,MS10665,MS16315,MS16423,MS23110,MS25308,SP51087,SP54189,SP54249,SP54942,SP56708,SP81152 nsv462757 6 31389749 31389974 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538846 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00635 dgv745n27 6 31389749 31390117 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462802,nsv462812,nsv462781,nsv462808,nsv462782,nsv462796,nsv462778,nsv462788,nsv462768,nsv462786,nsv462767,nsv462789,nsv462803,nsv462762,nsv462806,nsv462801,nsv462787,nsv462770,nsv462775,nsv462784,nsv462807,nsv462773,nsv462763,nsv462771,nsv462811,nsv462799,nsv462758,nsv462759,nsv462793,nsv462797,nsv462809,nsv462765,nsv462790,nsv462795,nsv462810,nsv462785,nsv462791,nsv462764,nsv462776,nsv462760,nsv462792,nsv462766,nsv462769,nsv462779,nsv462777,nsv462800,nsv462780,nsv462798,nsv462774 M 1557 0 49 "" 1780846030_A,1780854206_A,1780854574_A,1780862384_A,1782681099_A,1782681294_A,1782681495_A,HGDP00029,HGDP00143,HGDP00333,HGDP00412,HGDP00473,HGDP00491,HGDP00529,HGDP00574,HGDP00575,HGDP00599,HGDP00601,HGDP00614,HGDP00631,HGDP00634,HGDP00642,HGDP00701,HGDP00782,HGDP00872,HGDP00875,HGDP00880,HGDP00881,HGDP00892,HGDP00893,HGDP00968,HGDP01013,HGDP01031,HGDP01036,HGDP01066,HGDP01098,HGDP01269,HGDP01279,HGDP01304,HGDP01331,HGDP01337,HGDP01355,HGDP01405,HGDP01406,HGDP01408,HGDP01411,NINDS_134,NINDS_149,NINDS_86 nsv818405 6 31389749 31390117 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418073,nssv1415762,nssv1417995,nssv1418074,nssv1418075,nssv1418374,nssv1417996,nssv1417994,nssv1417723,nssv1415760,nssv1418373 M 112 1 10 "" NA07345,NA07348,NA07357,NA10847,NA10859,NA11881,NA11882,NA12239,NA12865,NA12875,NA19003 dgv6561n71 6 31389749 31401219 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884273,nsv884277,nsv884274 M 6533 3 0 "" MS24339,MS25486,SP81566 nsv818406 6 31389749 31422222 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416067 S 112 0 1 "" NA12813 nsv526319 6 31389749 31429190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702606 S 2026 0 1 "" nsv884287 6 31391583 31404659 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530201,nssv1589332,nssv1570070,nssv1507353,nssv1577191,nssv1600323,nssv1552352 M 6533 6 1 "" IS31778,IS34383,IS38338,IS41869,MS10241,MS19358,SP54535 dgv6562n71 6 31391583 31413710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884296,nsv884297,nsv884289 M 6533 0 4 "" IS33732,IS38439,IS40374,MS20612 esv270764 6 31392487 31392634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512492,essv2493310,essv2496192,essv2508205,essv2498552,essv2499720,essv2502035 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18504,NA18511,NA18579,NA18858,NA19225,NA19257 nsv821383 6 31392536 31410711 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420579 S 1 0 1 "" NA10851 esv2434054 6 31393061 31395392 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218736 S 1 0 1 "" NA18507 nsv884299 6 31393271 31456559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583687 S 6533 1 0 HLA-B IS36591 nsv823495 6 31393499 31394533 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432964,nssv1429087 M 31 2 0 "" AK12,NA18592 nsv823496 6 31393625 31395473 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434450,nssv1426441,nssv1440240,nssv1435890,nssv1426702,nssv1429837,nssv1425005,nssv1432080,nssv1421745,nssv1431341,nssv1424244,nssv1433676,nssv1439697 M 31 0 13 "" AK14,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18547,NA18566,NA18570,NA18582,NA18968,NA18997 esv1002920 6 31394255 31404430 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586032 S 3 0 1 "" HuRef nsv442977 6 31394255 31404430 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv884300 6 31394360 31407718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564527,nssv1600011 M 6533 0 2 "" IS30228,IS41831 nsv515033 6 31394412 31394640 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627036 S 1414 0 0 "" nsv515034 6 31395180 31396152 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627037 S 1414 0 0 "" nsv514349 6 31396356 31396744 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627798 S 1414 0 1 "" nsv884301 6 31396472 31408671 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514134,nssv1526827,nssv1571024 M 6533 3 0 "" IS32517,SP55947,SP57865 dgv6563n71 6 31396472 31412642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884305,nsv884307,nsv884302,nsv884306,nsv884308 M 6533 0 13 "" IS30459,IS34025,IS34458,IS34489,IS34697,IS35972,IS38351,IS38589,MS14216,MS14961,MS25486,MS25627,SP56949 dgv6564n71 6 31396472 31418001 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884303,nsv884309,nsv884311,nsv884310 M 6533 4 0 "" IS40291,MS14897,MS21180,SP54350 dgv6565n71 6 31396472 31427260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884304,nsv884314,nsv884317 M 6533 0 3 "" IS38063,SP50061,SP56126 esv2553856 6 31397861 31423019 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248064 S 1 0 1 "" NA18507 esv1105058 6 31400183 31401915 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826783 S 2 0 1 "" HuRef nsv884312 6 31400561 31410570 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534485 S 6533 1 0 "" MS11632 dgv6566n71 6 31400561 31414516 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884315,nsv884313 M 6533 2 0 "" IS31799,MS24747 nsv884316 6 31403505 31413710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595474 S 6533 0 1 "" IS40234 nsv510022 6 31403889 31409889 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618231,nssv622111 M 4 0 2 "" CHM,NA10860 esv7894 6 31404403 31412883 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30335 S 1 0 1 "" SJK esv273295 6 31404739 31404963 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580964,essv2579174,essv2579750 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1787128 6 31404777 31404777 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036946 S 2 1 0 "" HuRef esv1001425 6 31410786 31420680 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586426 S 3 0 1 "" HuRef esv268849 6 31411931 31412071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499948,essv2499907,essv2504583,essv2508598,essv2504947,essv2497893,essv2502677 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18558,NA18562,NA18563,NA18592,NA18942,NA18945,NA18965 nsv884318 6 31414516 31427260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512815 S 6533 0 1 "" SP55637 nsv462814 6 31416609 31435313 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538901 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HLA-B HGDP00491 nsv884319 6 31416967 31538700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505303 S 6533 1 0 HLA-B,MICA SP53349 esv9271 6 31430052 31457669 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31712 S 1 0 1 HLA-B SJK nsv10818 6 31430092 31436159 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16650,nssv14886 M 31 1 1 Samples from several populations that are part of the HapMap project. HLA-B NA10863,NA19221 esv998282 6 31432465 31435724 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586152 S 3 0 1 HLA-B HuRef dgv6567n71 6 31435313 31457901 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884321,nsv884320,nsv884322 M 6533 3 0 "" IS37446,IS40309,IS40643 nsv10819 6 31438396 31443379 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15927,nssv14398,nssv14000 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18853,NA19132,NA19144 dgv746n27 6 31442924 31448590 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462815,nsv462817 M 1557 0 2 "" HGDP00745,HGDP00849 nsv517441 6 31444079 31571942 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657284,nssv698611,nssv654908,nssv655952,nssv673735,nssv656529,nssv655412,nssv654364,nssv687336,nssv671309,nssv654787,nssv684684,nssv663432,nssv685386,nssv668860,nssv686748,nssv678651,nssv685884,nssv694041,nssv657866,nssv681090,nssv687534,nssv685312,nssv671878,nssv668821,nssv685850,nssv684218,nssv652028,nssv674498,nssv694001,nssv653006,nssv659386,nssv686937,nssv689876,nssv655175,nssv685059,nssv689155,nssv661084,nssv687804,nssv694201,nssv693235,nssv691883,nssv654414,nssv690083,nssv691588,nssv666800,nssv665347,nssv681759,nssv686570,nssv693114,nssv657149,nssv668189,nssv677365,nssv670788,nssv658685,nssv655290,nssv682938,nssv686432,nssv683229,nssv688644,nssv662665,nssv657957,nssv691813,nssv658197,nssv686749,nssv672577,nssv672409,nssv674182,nssv683405,nssv690743,nssv665155,nssv689521,nssv689945,nssv674241,nssv662302,nssv678282,nssv681747,nssv656813,nssv678579,nssv693197,nssv688113,nssv680117,nssv660391,nssv670680,nssv674063,nssv685851,nssv664835,nssv662567,nssv673247 M 2026 11 78 HCG26,HCP5,MICA dgv6568n71 6 31444547 31450439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884329,nsv884323,nsv884331,nsv884324 M 6533 0 28 "" SP50038,SP50144,SP50537,SP50826,SP51022,SP52139,SP52835,SP52858,SP53048,SP54350,SP54356,SP54516,SP54761,SP54956,SP55195,SP55610,SP55677,SP55882,SP56013,SP56064,SP56331,SP56766,SP57021,SP57328,SP57651,SP57941,SP58114,SP80913 nsv884325 6 31444849 31453000 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570083,nssv1567952 M 6533 1 1 "" IS31179,IS31799 dgv6569n71 6 31444849 31456559 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884332,nsv884326,nsv884327 M 6533 3 0 "" IS33857,IS34523,IS40744 dgv6570n71 6 31444870 31449135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884328,nsv884330 M 6533 0 4 "" SP52160,SP54050,SP54543,SP56047 dgv57n64 6 31445794 31448590 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818408,nsv818407 M 112 0 2 "" NA18949,NA18971 nsv441989 6 31445851 31448789 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421945 6 31445851 31449319 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5151383,essv5031159,essv5091580,essv5111133,essv5034096,essv5118147,essv5007513,essv5023100,essv5069910,essv5015878,essv5118591,essv5160455,essv5114362,essv5142854,essv5120352,essv5112531,essv5146176,essv5138807,essv5027648,essv5021090,essv5039335,essv5147496,essv5137886,essv5006058,essv5043495,essv5129273,essv5145707,essv5024752,essv5067719,essv5091571,essv5025076,essv5136709,essv5037303,essv5083727,essv5062223,essv5136478,essv5136104,essv5134858,essv5137894,essv5154808,essv5135965,essv5028224,essv5011098,essv5124664,essv5025108,essv5073997,essv5015037,essv5096560,essv5017039,essv5153185,essv5087445,essv5120959,essv5042962,essv5017159,essv5042061,essv5132807,essv5028044,essv5105331,essv5142326,essv5131671,essv5117394,essv5146024,essv5090280,essv5023808,essv5023515,essv5038810,essv5089300,essv5092721,essv5028950,essv5094006,essv5091627,essv5048024,essv5015603,essv5074667 M 1184 0 74 "" NA06994,NA10855,NA10863,NA11832,NA12234,NA12347,NA12766,NA12776,NA17972,NA17987,NA17990,NA17998,NA18114,NA18155,NA18160,NA18548,NA18552,NA18592,NA18603,NA18612,NA18626,NA18634,NA18635,NA18643,NA18645,NA18944,NA18949,NA18953,NA18956,NA18960,NA18963,NA18964,NA18965,NA18967,NA18971,NA18972,NA18978,NA18987,NA18990,NA18991,NA18994,NA18999,NA19056,NA19057,NA19060,NA19068,NA19074,NA19076,NA19078,NA19086,NA19651,NA19654,NA19661,NA19701,NA19723,NA19780,NA19781,NA20852,NA20854,NA20870,NA20875,NA20877,NA20881,NA20885,NA20888,NA20906,NA21088,NA21092,NA21100,NA21102,NA21105,NA21116,NA21125,NA21137 nsv884333 6 31446747 31450439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504182 S 6533 0 1 "" SP52274 nsv509125 6 31447455 31507081 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623473 S 4 1 0 MICA NA18994 dgv213e55 6 31460859 31606700 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752119,esv2752115,esv2752118 M 771 3 0 ATP6V1G2-DDX39B,DDX39B,HCG26,HCP5,MCCD1,MICA,MICB BEC_516,BEC_627,SPC_54 dgv214e55 6 31461308 31565557 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752116,esv2752122,esv2752117,esv2752120 M 771 4 0 HCG26,HCP5,MICA BEC_445,BEC_691,BEC_814,SPC_100 dgv1926e1 6 31461308 31568199 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6851,essv6210,essv7685,essv13301,essv3592 M 271 0 0 HCG26,HCP5,MICA NA18558,NA18563,NA18620,NA18969,NA19202 essv13266 6 31461308 31650287 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ATP6V1G2,ATP6V1G2-DDX39B,DDX39B,HCG26,HCP5,LTA,MCCD1,MICA,MICB,NFKBIL1,SNORD117,SNORD84 NA19201 esv34063 6 31461668 31559455 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 HCG26,HCP5,MICA esv26480 6 31462308 31561028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10903,esv13160,esv9841 M 451 0 2 HCG26,HCP5,MICA NA15510,NA18907 dgv6571n71 6 31462798 31566184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884376,nsv884379,nsv884335,nsv884342,nsv884358,nsv884334,nsv884340,nsv884337,nsv884375,nsv884349,nsv884366,nsv884369,nsv884373,nsv884374,nsv884350,nsv884346,nsv884341,nsv884336,nsv884357,nsv884351,nsv884362,nsv884360,nsv884365,nsv884338,nsv884352,nsv884378,nsv884339,nsv884384,nsv884383,nsv884368,nsv884359,nsv884381 M 6533 0 71 HCG26,HCP5,MICA IS31096,IS31133,IS35561,IS36521,IS36600,IS38593,IS39326,IS40012,IS41404,MS10064,MS10720,MS10733,MS11454,MS11552,MS11821,MS12509,MS13050,MS14544,MS15117,MS15539,MS16436,MS16521,MS16728,MS16797,MS16934,MS17508,MS17611,MS18552,MS19184,MS21925,MS22863,MS24678,MS25163,MS25471,MS25526,MS25745,MS25941,SP50066,SP50178,SP50634,SP51167,SP52282,SP52634,SP52694,SP52701,SP52721,SP53413,SP53447,SP53857,SP54049,SP54561,SP54580,SP54645,SP54666,SP54905,SP54957,SP55021,SP55092,SP55394,SP55565,SP55808,SP56064,SP56342,SP57600,SP58249,SP58318,SP58404,SP80948,SP81091,SP81161,SP81448 dgv747n27 6 31462798 31567721 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462863,nsv462845,nsv462847,nsv462823,nsv462842,nsv462824,nsv462861,nsv462830,nsv462849,nsv462825,nsv462860,nsv462828,nsv462835,nsv462834,nsv462850,nsv462821,nsv462852,nsv462836,nsv462858,nsv462831,nsv462866,nsv462822,nsv462846,nsv462833,nsv462820,nsv462829,nsv462853,nsv462826,nsv462832,nsv462864,nsv462859,nsv462848,nsv462819,nsv462865 M 1557 0 34 HCG26,HCP5,MICA 1780862094_A,1780862101_A,HGDP00110,HGDP00120,HGDP00445,HGDP00656,HGDP00675,HGDP00689,HGDP00699,HGDP00733,HGDP00739,HGDP00753,HGDP00762,HGDP00771,HGDP00832,HGDP00852,HGDP00868,HGDP00876,HGDP00920,HGDP00927,HGDP00945,HGDP00975,HGDP01023,HGDP01096,HGDP01203,HGDP01208,HGDP01212,HGDP01223,HGDP01237,HGDP01240,HGDP01250,HGDP01251,HGDP01290,NINDS_191 nsv470808 6 31463297 31470909 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544468,nssv544466,nssv544473,nssv544474,nssv544469,nssv544467,nssv544471,nssv544463,nssv544472,nssv544464,nssv544470 M 443 0 11 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00656,HGDP00657,HGDP00675,HGDP00689,HGDP00699,HGDP00876,HGDP00878,HGDP00920,HGDP00927,HGDP00944,HGDP01223 esv3160 6 31464510 31565908 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25601 S 1 1 0 Single Asian sample YH HCG26,HCP5,MICA YH nsv511868 6 31464801 31561311 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624399 S 1 0 1 HCG26,HCP5,MICA 1 nsv513736 6 31464925 31563199 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626988 S 1 1 0 HCG26,HCP5,MICA 1 esv2432528 6 31465060 31563314 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285859 S 1 0 1 HCG26,HCP5,MICA NA18507 dgv6572n71 6 31465370 31475465 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884347,nsv884343 M 6533 0 2 "" IS35561,IS36552 dgv6573n71 6 31465370 31507562 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884344,nsv884367,nsv884355,nsv884356,nsv884371,nsv884372,nsv884345,nsv884370,nsv884348 M 6533 0 19 MICA IS31576,IS41193,MS14696,MS18212,MS20872,MS24158,SP50776,SP51234,SP53894,SP53969,SP54381,SP54469,SP55034,SP55257,SP55488,SP56128,SP56728,SP56794,SP81068 nsv435829 6 31466854 31561247 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466268 S 2 0 1 HCG26,HCP5,MICA NA15510 nsv10820 6 31466904 31559796 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13946,nssv14458,nssv13937,nssv15987,nssv16680,nssv15957 M 31 1 4 Samples from several populations that are part of the HapMap project. HCG26,HCP5,MICA NA18563,NA19007,NA19132,NA19144,NA19221 nsv884353 6 31467172 31478308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523986 S 6533 1 0 MICA SP54323 nsv884354 6 31467172 31484442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562774 S 6533 0 1 MICA MS25745 dgv6574n71 6 31467172 31562866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884377,nsv884380,nsv884361 M 6533 3 0 HCG26,HCP5,MICA SP52174,SP54323,SP56832 dgv6575n71 6 31467172 31565157 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884363,nsv884364 M 6533 2 3 HCG26,HCP5,MICA MS23098,SP53827,SP54356,SP54585,SP54966 nsv823497 6 31467351 31559259 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425006,nssv1441089 M 31 0 2 HCG26,HCP5,MICA AK2,NA18969 dgv215e55 6 31467600 31582667 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34376,esv34950,esv34991,esv34619,esv35005,esv34444,esv34684,esv2752121 M 771 0 8 HCG26,HCP5,MICA,MICB NA15510,NA18558,NA18563,NA18620,NA18969,NA19201,NA19202,SPC_162 esv29968 6 31467627 31565557 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84207 S 2 1 0 HCG26,HCP5,MICA HuRef nsv441990 6 31467630 31559451 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HCG26,HCP5,MICA dgv748n27 6 31468368 31485566 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462844,nsv462843 M 1557 0 2 MICA HGDP00621,HGDP00641 nsv462854 6 31468368 31565557 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538935 S 1557 1 0 HCG26,HCP5,MICA NINDS_192 nsv818409 6 31468368 31565557 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417198 S 112 0 1 HCG26,HCP5,MICA NA18558 nsv884382 6 31484442 31506023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583625 S 6533 0 1 MICA IS36552 nsv437496 6 31490890 31499597 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467377 S 60 0 1 Samples from several populations that are part of the HapMap project. MICA NA19202 esv2752123 6 31495946 31554525 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986280,essv6986279,essv6982836,essv6982837,essv6988591 M 771 1 0 HCG26,HCP5 BEC_603 esv1350678 6 31503417 31503528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871319 S 2 0 1 "" HuRef esv1542956 6 31504510 31504681 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118576 S 2 0 1 "" HuRef esv1669294 6 31504817 31504884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659773 S 2 0 1 "" HuRef esv1248653 6 31505358 31505358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855449 S 2 1 0 "" HuRef dgv6576n71 6 31508869 31545284 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884385,nsv884397 M 6533 0 2 HCP5 MS20872,SP51234 dgv6577n71 6 31508869 31565157 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884391,nsv884388,nsv884395,nsv884396,nsv884398,nsv884389,nsv884399,nsv884387,nsv884394,nsv884392,nsv884390,nsv884393,nsv884386 M 6533 0 18 HCG26,HCP5 IS31576,IS36552,IS41193,MS14696,MS18212,MS24158,SP50776,SP53894,SP53969,SP54381,SP54469,SP55034,SP55257,SP55488,SP56128,SP56728,SP56794,SP81068 esv34118 6 31508914 31557248 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 HCG26,HCP5 nsv823499 6 31518498 31537856 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425007 S 31 0 1 "" AK2 nsv884400 6 31521989 31535210 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585843 S 6533 0 1 "" IS37646 dgv6578n71 6 31525626 31537906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884406,nsv884402,nsv884403,nsv884407,nsv884401 M 6533 0 8 "" IS31656,IS32737,IS34407,IS39233,IS39418,MS18276,SP54956,SP56047 nsv884404 6 31525626 31537906 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573792,nssv1576002,nssv1575031 M 6533 1 2 "" IS33504,IS33684,IS33857 nsv884405 6 31525626 31542090 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534698 S 6533 0 1 HCP5 MS11726 nsv436513 6 31526108 31533195 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466269 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv884408 6 31527366 31533964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510720 S 6533 0 1 "" SP54988 nsv5246 6 31528288 31558534 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2580 S 9 0 1 HCG26,HCP5 NA18555 esv1921549 6 31529266 31532444 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672653 S 1 0 1 "" NA18507 nsv511869 6 31529370 31532756 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624401 S 1 0 1 "" 1 esv2916 6 31529432 31532409 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25357 S 1 0 1 Single Asian sample YH "" YH nsv499677 6 31529476 31532372 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585978 S 9 0 1 "" esv1445856 6 31529482 31532371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918760 S 2 0 1 "" HuRef esv1074159 6 31532440 31532528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121567 S 2 0 1 "" HuRef esv269295 6 31546963 31547292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575878,essv2545560,essv2531958,essv2548171,essv2576609,essv2525299,essv2554306,essv2544240,essv2564421,essv2555010,essv2540062,essv2521022,essv2557554,essv2557257,essv2552597,essv2532057,essv2569481,essv2578853,essv2558816,essv2536866,essv2539190,essv2527229,essv2544749,essv2541277,essv2538334,essv2534677,essv2539860,essv2549370,essv2541614,essv2570107,essv2563696,essv2535742,essv2566734,essv2541991,essv2551189,essv2569066,essv2543706,essv2527979,essv2562240,essv2539253,essv2534148,essv2566385,essv2530101,essv2573863,essv2527584,essv2522481,essv2543129,essv2525819,essv2529712,essv2575459,essv2575044,essv2524207,essv2574953,essv2530213,essv2572860,essv2568435,essv2545162,essv2560472,essv2549614,essv2571271,essv2545735,essv2574162,essv2551361,essv2536003,essv2548911,essv2563367,essv2557974 M 157 67 0 Samples from several populations that are part of the HapMap project. HCG26 NA06986,NA07037,NA10847,NA10851,NA11830,NA12003,NA12006,NA12045,NA12154,NA12156,NA12287,NA12414,NA12751,NA12872,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18526,NA18545,NA18547,NA18561,NA18563,NA18564,NA18592,NA18593,NA18603,NA18608,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18948,NA18949,NA18951,NA18952,NA18960,NA18965,NA18980,NA19093,NA19099,NA19102,NA19129,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274516 6 31546967 31547294 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581675,essv2582308,essv2584162 M 7 3 0 Samples from several populations that are part of the HapMap project. HCG26 NA12878,NA12891,NA19238 esv1671758 6 31546995 31546995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151524 S 2 1 0 HCG26 HuRef nsv511312 6 31547536 31549328 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625365 S 1 0 1 HCG26 1 dgv6579n71 6 31547536 31562344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884409,nsv884410 M 6533 0 2 HCG26 MS20872,SP51234 nsv823500 6 31551108 31553116 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425009 S 31 0 1 "" AK2 nsv823501 6 31555454 31556511 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425010 S 31 0 1 "" AK2 nsv884411 6 31558132 31569945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596812 S 6533 1 0 "" IS40646 nsv10821 6 31561240 31584461 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13967 S 31 0 1 Samples from several populations that are part of the HapMap project. MICB NA18563 nsv884412 6 31566184 31574526 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544902 S 6533 1 0 MICB MS16580 nsv884413 6 31566612 31587767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540064 S 6533 1 0 MICB MS14679 dgv6580n71 6 31566612 31609392 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884414,nsv884415 M 6533 2 0 ATP6V1G2-DDX39B,DDX39B,MCCD1,MICB MS18290,MS18436 dgv1927e1 6 31568086 31605085 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4773,essv14527,essv5400,essv14457 M 271 0 0 MCCD1,MICB NA18563,NA18620,NA19201,NA19202 nsv462869 6 31571942 31589084 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538944 S 1557 0 1 MICB NINDS_266 nsv884416 6 31596124 31605378 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544903 S 6533 1 0 MCCD1 MS16580 nsv830627 6 31604193 31767929 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445322 S 95 0 1 ABHD16A,AIF1,APOM,ATP6V1G2,ATP6V1G2-DDX39B,BAG6,C6orf47,CSNK2B,DDX39B,GPANK1,LST1,LTA,LTB,LY6G5B,LY6G5C,MCCD1,NCR3,NFKBIL1,PRRC2A,SNORA38,SNORD117,SNORD84,TNF nsv526235 6 31604894 31605378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702502 S 2026 0 1 MCCD1 nsv470809 6 31604894 31652168 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544475 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP6V1G2,ATP6V1G2-DDX39B,DDX39B,LTA,MCCD1,NFKBIL1,SNORD117,SNORD84,TNF HGDP00697 nsv884417 6 31623057 31633333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576685 S 6533 0 1 NFKBIL1 IS34235 nsv884418 6 31633427 31849057 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592626 S 6533 1 0 ABHD16A,AIF1,APOM,BAG6,C6orf25,C6orf26,C6orf27,C6orf47,CLIC1,CSNK2B,DDAH2,GPANK1,LST1,LTA,LTB,LY6G5B,LY6G5C,LY6G6C,LY6G6D,LY6G6E,LY6G6F,MIR4646,MSH5,MSH5-C6orf26,NCR3,NFKBIL1,PRRC2A,SNORA38,TNF IS39243 nsv462870 6 31636109 31652168 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538945 S 1557 0 1 LTA,TNF NINDS_22 nsv462871 6 31683255 31740113 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538946 S 1557 0 1 AIF1,APOM,BAG6,C6orf47,GPANK1,PRRC2A,SNORA38 NINDS_50 dgv6581n71 6 31692979 31740630 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884424,nsv884420,nsv884421,nsv884422,nsv884419 M 6533 0 6 APOM,BAG6,C6orf47,GPANK1,PRRC2A,SNORA38 IS33504,IS37646,IS39233,MS16153,MS17208,MS18276 nsv884423 6 31701708 31723146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530540 S 6533 0 1 BAG6,PRRC2A MS10311 nsv884425 6 31796497 31806523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546595 S 6533 0 1 C6orf25,CLIC1,DDAH2,LY6G6C MS17208 nsv349349 6 31803109 31803297 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367927 M 24 DDAH2 nsv349350 6 31803450 31803929 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367928 M 24 DDAH2 nsv819978 6 31821238 31829098 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419846 S 2 0 1 MSH5,MSH5-C6orf26 AK1 dgv6582n71 6 31836081 31910444 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884430,nsv884427,nsv884426 M 6533 0 3 C6orf26,C6orf27,HSPA1A,HSPA1B,HSPA1L,LSM2,MSH5,MSH5-C6orf26,VARS IS33684,MS10311,MS17208 dgv6583n71 6 31836081 31978305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884428,nsv884429 M 6533 0 2 C2,C6orf26,C6orf27,C6orf48,EHMT2,HSPA1A,HSPA1B,HSPA1L,LSM2,MSH5,MSH5-C6orf26,NEU1,SLC44A4,SNORD48,SNORD52,VARS,ZBTB12 IS37646,MS16153 nsv884431 6 31840658 31869365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587473 S 6533 1 0 C6orf27,VARS IS38056 dgv6584n71 6 31842096 31885666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884433,nsv884437,nsv884443,nsv884440,nsv884432 M 6533 0 7 C6orf27,HSPA1L,LSM2,VARS IS32322,IS33504,IS34235,IS38176,IS39233,IS41410,SP54956 nsv884434 6 31847860 31856089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586807 S 6533 0 1 C6orf27,VARS IS37985 dgv6585n71 6 31847860 31862075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884436,nsv884439,nsv884435 M 6533 0 5 C6orf27,VARS IS30197,IS33162,IS35007,IS38293,IS40799 nsv884438 6 31850569 31859811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544240,nssv1532396,nssv1549693 M 6533 0 3 C6orf27,VARS MS10769,MS16315,MS18276 nsv884441 6 31853497 31862075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588841 S 6533 0 1 VARS IS38262 nsv884442 6 31853497 31872878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571874 S 6533 0 1 VARS IS32841 dgv6586n71 6 31864649 31877229 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884444,nsv884445 M 6533 0 2 LSM2,VARS IS30369,SP55021 dgv6587n71 6 31868288 31878749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884446,nsv884447 M 6533 0 2 LSM2,VARS IS39417,SP54988 nsv823502 6 31885636 31887602 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432975 S 31 0 1 HSPA1L NA18592 nsv823503 6 31886248 31887715 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432081 S 31 0 1 HSPA1L AK20 nsv482094 6 31891270 31893698 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558455 S 1 1 0 HSPA1A KB1 nsv823504 6 31891469 31903301 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432082 S 31 0 1 HSPA1A AK20 dgv6588n71 6 31891506 31903349 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884448,nsv884452,nsv884458,nsv884453,nsv884449 M 6533 0 8 HSPA1A IS33547,IS33596,IS39420,MS10183,MS11444,MS17609,MS18263,SP81363 dgv6589n71 6 31891506 31905748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884450,nsv884455,nsv884462,nsv884454 M 6533 0 5 HSPA1A,HSPA1B MS25798,SP52529,SP54058,SP56271,SP81014 dgv6590n71 6 31891506 31911109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884457,nsv884456,nsv884451 M 6533 0 3 C6orf48,HSPA1A,HSPA1B,SNORD48 IS31634,IS33601,MS18276 esv2421830 6 31893207 31905401 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5033503,essv5052574,essv5074207,essv5082197,essv5026636,essv5005877,essv5127749,essv5062881,essv5086984,essv5010316,essv5157779,essv5093803,essv5067697,essv5023531,essv5151732 M 1184 0 15 HSPA1A,HSPA1B NA12775,NA18943,NA19060,NA19204,NA19380,NA19381,NA19382,NA19676,NA19677,NA19901,NA20542,NA20544,NA20756,NA21512,NA21825 dgv6591n71 6 31893432 31905401 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884459,nsv884460 M 6533 3 19 HSPA1A,HSPA1B IS33361,IS36330,IS36667,IS37712,IS40188,MS11537,MS12265,MS12782,MS13716,MS15777,MS17689,MS18192,MS18288,MS18598,MS20236,MS21130,MS23212,MS24479,MS25901,SP53947,SP55407,SP81536 dgv6592n71 6 31893432 31935024 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884463,nsv884461 M 6533 0 2 C6orf48,HSPA1A,HSPA1B,NEU1,SNORD48,SNORD52 IS33504,IS34235 dgv6593n71 6 31913368 31926559 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884464,nsv884465 M 6533 0 4 C6orf48 MS20784,SP54774,SP54994,SP57736 nsv884466 6 31920634 31927102 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534334 S 6533 0 1 "" MS11550 nsv884467 6 31921214 31929020 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576003 S 6533 1 0 "" IS33857 dgv6594n71 6 31921214 31935265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884468,nsv884473,nsv884469,nsv884470,nsv884471 M 6533 0 11 NEU1 IS30369,IS32322,IS33248,IS33684,IS34304,IS35484,IS39233,IS39363,IS39417,IS41410,SP54956 nsv884472 6 31921877 31978835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530542 S 6533 0 1 C2,EHMT2,NEU1,SLC44A4,ZBTB12 MS10311 nsv508399 6 31937453 32010402 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622546 S 4 0 1 C2,EHMT2,NEU1,SLC44A4,ZBTB12 NA18994 nsv509126 6 31937453 32010402 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620849 S 4 1 0 C2,EHMT2,NEU1,SLC44A4,ZBTB12 NA15510 dgv6595n71 6 31944034 31988299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884475,nsv884474 M 6533 0 2 C2,EHMT2,SLC44A4,ZBTB12 IS33684,MS17208 nsv884476 6 31955979 31978305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589213 S 6533 1 0 C2,EHMT2,ZBTB12 IS38315 dgv6596n71 6 31958703 31978835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884483,nsv884480,nsv884477 M 6533 0 3 C2,EHMT2,ZBTB12 IS32322,IS32841,IS34304 dgv6597n71 6 31958703 31988299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884478,nsv884479,nsv884481,nsv884482,nsv884484 M 6533 0 5 C2,EHMT2,ZBTB12 IS33239,IS33504,IS34235,IS38176,IS39233 dgv6598n71 6 31968555 31988299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884496,nsv884493,nsv884498,nsv884497,nsv884494,nsv884495,nsv884485 M 6533 0 9 C2,EHMT2,ZBTB12 IS32306,IS33514,IS37646,IS39363,IS39417,SP51109,SP54043,SP54956,SP55021 nsv884486 6 31969186 31977114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519328 S 6533 0 1 C2,EHMT2,ZBTB12 SP81010 dgv6599n71 6 31969186 31980530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884488,nsv884487,nsv884491,nsv884490,nsv884489 M 6533 0 12 C2,EHMT2,ZBTB12 IS37172,IS38538,IS40230,IS40396,IS40502,MS14318,MS16315,MS17825,MS18276,SP54593,SP54988,SP55019 dgv6600n71 6 31969186 31984626 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884492,nsv884502 M 6533 0 2 C2,EHMT2,ZBTB12 IS30369,MS16213 dgv6601n71 6 31972283 31982484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884499,nsv884501,nsv884500 M 6533 0 3 C2,EHMT2,ZBTB12 IS32803,IS40297,MS10698 nsv10822 6 31974748 31979669 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16710 S 31 1 0 Samples from several populations that are part of the HapMap project. C2,ZBTB12 NA19221 nsv884503 6 31978852 31987137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513669,nssv1501178,nssv1500845,nssv1501764,nssv1504236,nssv1519104,nssv1518137,nssv1513390,nssv1516557,nssv1502031,nssv1516011,nssv1512356,nssv1504512,nssv1512914,nssv1500709,nssv1506551,nssv1509322,nssv1504780,nssv1505250,nssv1515991,nssv1508205,nssv1504997,nssv1514156,nssv1517814,nssv1514587,nssv1502431,nssv1502806,nssv1517369,nssv1506302,nssv1505826,nssv1518441,nssv1514782,nssv1500364 M 6533 0 33 C2 SP50043,SP50176,SP50927,SP50954,SP50985,SP51115,SP51175,SP51419,SP52338,SP52559,SP52729,SP52951,SP53342,SP54002,SP54189,SP54373,SP54559,SP54782,SP55462,SP55652,SP55749,SP55822,SP55966,SP56023,SP56079,SP56350,SP56373,SP56861,SP57268,SP57376,SP57469,SP57577,SP80955 dgv6602n71 6 31978852 31994723 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884506,nsv884509,nsv884504 M 6533 0 5 C2 IS31302,IS35572,IS36512,IS37060,MS13770 dgv6603n71 6 31978852 32003195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884508,nsv884510,nsv884505,nsv884507 M 6533 0 4 C2 IS41317,MS10123,MS11726,MS13095 nsv10823 6 31978975 31988205 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14488 S 31 0 1 Samples from several populations that are part of the HapMap project. C2 NA19144 nsv823505 6 31979218 31983148 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429838 S 31 0 1 C2 AK14 esv2422045 6 31979464 31986474 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5085092,essv5083973,essv5103119,essv5087984,essv5044705,essv5158526,essv5160345,essv5126521,essv5043265,essv5009249,essv5013571,essv5122025,essv5093016,essv5144795,essv5003371,essv5160385 M 1184 0 16 C2 NA18128,NA18518,NA18520,NA18619,NA18645,NA18748,NA19005,NA19072,NA19080,NA19144,NA19456,NA19725,NA20539,NA20883,NA21142,NA21144 dgv1928e1 6 31979491 32200821 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12207,essv9636,essv2693,essv1517,essv7095,essv16523,essv20166,essv14699,essv15106,essv13752,essv22992,essv21304,essv10743,essv7783,essv11703,essv20412,essv21078,essv13487,essv5725,essv10621,essv17279,essv20608,essv14106,essv9751,essv14549,essv17978,essv17782,essv22760,essv2042,essv9215,essv15499 M 271 0 0 ATF6B,C2,C4A,C4B,CFB,CYP21A1P,CYP21A2,DOM3Z,LOC100293534,MIR1236,RDBP,SKIV2L,STK19,TNXA,TNXB NA06991,NA07019,NA07056,NA07357,NA10830,NA10831,NA10855,NA11832,NA12003,NA18505,NA18523,NA18537,NA18542,NA18593,NA18855,NA18856,NA18861,NA18863,NA18949,NA18967,NA18980,NA19101,NA19128,NA19129,NA19141,NA19153,NA19154,NA19159,NA19192,NA19202,NA19210 nsv428141 6 31979491 32200821 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450650,nssv450649,nssv450648,nssv450652 M 62 1 3 ATF6B,C2,C4A,C4B,CFB,CYP21A1P,CYP21A2,DOM3Z,LOC100293534,MIR1236,RDBP,SKIV2L,STK19,TNXA,TNXB HGDP00449,HGDP00472,HGDP00473,HGDP00476 dgv1929e1 6 31979491 32317091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22061,essv7868,essv13196,esv324,essv8315 M 271 0 0 AGER,AGPAT1,ATF6B,C2,C4A,C4B,CFB,CYP21A1P,CYP21A2,DOM3Z,EGFL8,FKBPL,GPSM3,LOC100293534,LOC100507547,MIR1236,NOTCH4,PBX2,PPT2,PPT2-EGFL8,PRRT1,RDBP,RNF5,RNF5P1,SKIV2L,STK19,TNXA,TNXB NA12154,NA18558,NA19102,NA19103 esv988690 6 31987114 31992004 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586587 S 3 1 0 C2 HuRef nsv830628 6 31995533 32055579 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445343,nssv1445337,nssv1445356,nssv1445359,nssv1445358,nssv1445341,nssv1445327,nssv1445346,nssv1445323,nssv1445325,nssv1445326,nssv1445324,nssv1445361,nssv1445360,nssv1445336,nssv1445354,nssv1445345,nssv1445342,nssv1445353,nssv1445331,nssv1445330,nssv1445352,nssv1445328,nssv1445332,nssv1445344,nssv1445355,nssv1445335,nssv1445347,nssv1445349,nssv1445334,nssv1445357,nssv1445339,nssv1445348,nssv1445350,nssv1445338,nssv1445333 M 95 0 36 C2,CFB,DOM3Z,MIR1236,RDBP,SKIV2L,STK19 nsv884511 6 32002797 32011100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509855 S 6533 0 1 C2 SP54956 nsv884512 6 32016449 32041140 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592627 S 6533 1 0 C2,CFB,MIR1236,RDBP,SKIV2L IS39243 nsv819433 6 32025237 32025773 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418990 S 2 0 1 CFB AK1 dgv6604n71 6 32030554 32174003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884513,nsv884517 M 6533 0 2 C4A,C4B,CYP21A1P,CYP21A2,DOM3Z,LOC100293534,MIR1236,RDBP,SKIV2L,STK19,TNXA,TNXB MS10311,MS16153 nsv884514 6 32031031 32066939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585847 S 6533 0 1 C4A,C4B,DOM3Z,LOC100293534,MIR1236,RDBP,SKIV2L,STK19 IS37646 nsv284 6 32033718 32104699 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv284 S 1 0 1 C4A,C4B,CYP21A1P,DOM3Z,LOC100293534,RDBP,SKIV2L,STK19,TNXA NA15510 nsv5247 6 32033718 32131194 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4907,nssv11124,nssv541,nssv3427,nssv11123,nssv9425,nssv4908,nssv2581,nssv3428 M 9 0 6 C4A,C4B,CYP21A1P,CYP21A2,DOM3Z,LOC100293534,RDBP,SKIV2L,STK19,TNXA,TNXB NA12878,NA15510,NA18517,NA18555,NA19129,NA19240 dgv6605n71 6 32038784 32054593 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884515,nsv884516,nsv884518 M 6533 0 3 DOM3Z,SKIV2L,STK19 IS33504,MS17208,MS18276 dgv6606n71 6 32045095 32055573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884519,nsv884520 M 6533 0 2 DOM3Z,SKIV2L,STK19 IS39233,SP54956 dgv6607n71 6 32049746 32126347 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884557,nsv884571,nsv884574,nsv884591,nsv884593,nsv884521,nsv884578,nsv884537,nsv884549,nsv884572,nsv884542,nsv884539,nsv884595,nsv884524 M 6533 0 19 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB IS33455,IS33684,IS35422,IS38224,IS38342,IS38409,IS39373,IS40898,MS14842,MS15835,MS22568,MS24931,SP51021,SP52161,SP52829,SP53003,SP57642,SP57675,SP81226 dgv6608n71 6 32051513 32134786 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884610,nsv884526,nsv884621,nsv884592,nsv884540,nsv884596,nsv884598,nsv884594,nsv884605,nsv884609,nsv884604,nsv884543,nsv884622,nsv884623,nsv884522,nsv884611,nsv884620,nsv884558,nsv884612,nsv884613,nsv884603 M 6533 30 0 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB IS31169,IS33040,IS34658,IS34895,IS36722,IS36752,IS37214,IS37848,IS38012,IS38270,IS38271,IS38315,IS38436,IS38464,IS39250,IS39453,IS41043,IS41292,IS41919,IS41982,MS10098,MS10758,MS11307,MS13744,MS14296,MS14779,MS15571,MS17056,MS23145,MS26001 dgv6609n71 6 32055102 32068749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884546,nsv884561,nsv884527,nsv884523,nsv884552 M 6533 0 5 C4A,C4B,LOC100293534,STK19 IS31991,SP50058,SP51109,SP54720,SP57314 dgv6610n71 6 32055439 32089979 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884525,nsv884582,nsv884531 M 6533 3 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS30325,IS31390,MS20011 dgv6611n71 6 32055573 32067857 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884545,nsv884528,nsv884544 M 6533 3 0 C4A,C4B,LOC100293534,STK19 SP50569,SP56766,SP56926 dgv6612n71 6 32055573 32089979 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884530,nsv884567,nsv884554,nsv884579,nsv884568,nsv884599,nsv884529 M 6533 0 13 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS40157,IS41703,MS12991,MS16828,MS18377,SP52080,SP52253,SP52464,SP53401,SP55032,SP55117,SP57322,SP81355 dgv6613n71 6 32055573 32099671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884556,nsv884532,nsv884555,nsv884569 M 6533 0 6 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS38193,IS39348,MS24747,MS25917,SP50107,SP51105 dgv6614n71 6 32055573 32102419 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884586,nsv884548,nsv884585,nsv884533,nsv884587,nsv884580,nsv884600 M 6533 10 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS30054,IS35486,IS35519,IS39181,MS18101,MS23886,SP50170,SP50942,SP56927,SP81349 dgv6615n71 6 32055573 32114582 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884550,nsv884597,nsv884619,nsv884602,nsv884535,nsv884534 M 6533 8 0 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA IS30934,IS35470,MS12071,MS15805,MS18123,MS25308,SP80948,SP81181 dgv6616n71 6 32055573 32119296 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884541,nsv884576,nsv884590,nsv884588,nsv884536,nsv884575,nsv884573,nsv884577,nsv884538 M 6533 14 21 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB IS30388,IS30530,IS31166,IS33665,IS35436,IS38487,IS38979,IS39418,IS40205,IS41786,MS10535,MS10778,MS13336,MS13813,MS14250,MS14708,MS15737,MS16252,MS16944,MS22411,MS22590,MS22840,MS23152,MS23865,MS24390,SP50562,SP52328,SP52351,SP53999,SP54798,SP56381,SP56993,SP58548,SP81119,SP81582 esv28110 6 32055886 32124504 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11132,esv16867,esv16306,esv17264,esv17565,esv10803 M 451 10 22 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19108,NA19114,NA19147,NA19225,NA19240 dgv6617n71 6 32056076 32099671 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884547,nsv884583,nsv884570,nsv884584 M 6533 17 11 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS31396,IS31747,IS33529,IS34386,IS38388,IS39322,IS40050,IS40487,IS40752,IS40849,IS41859,MS12597,MS13359,MS18375,MS18400,MS18407,MS22093,MS23714,MS24172,MS24248,MS24969,MS26100,SP50527,SP52130,SP53474,SP54680,SP56783,SP57803 nsv10824 6 32056113 32122002 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14034,nssv14916,nssv14643,nssv16454,nssv16131,nssv14197,nssv15249,nssv14235,nssv15582 M 31 5 4 Samples from several populations that are part of the HapMap project. C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB NA07048,NA10863,NA11830,NA12740,NA18502,NA18517,NA18537,NA18860,NA18975 nsv884551 6 32057331 32065343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573122 S 6533 0 1 C4A,C4B,LOC100293534 IS33240 nsv884553 6 32057331 32073734 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519584 S 6533 1 0 C4A,C4B,LOC100293534 SP81097 dgv6618n71 6 32058245 32066939 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884560,nsv884559 M 6533 8 7 C4A,C4B,LOC100293534 IS34701,IS34709,IS38298,IS39394,IS40329,MS10174,MS11352,MS17237,SP50796,SP52147,SP55100,SP55125,SP55800,SP55807,SP57463 dgv6619n71 6 32058245 32069461 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884563,nsv884564,nsv884565,nsv884562,nsv884581 M 6533 13 0 C4A,C4B,LOC100293534 MS16607,SP52364,SP52393,SP53288,SP53700,SP54090,SP54107,SP54478,SP54725,SP55027,SP56846,SP56965,SP56976 nsv884566 6 32058245 32076859 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564252 S 6533 0 1 C4A,C4B,LOC100293534 IS30193 dgv6620n71 6 32060401 32114582 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884601,nsv884628,nsv884618,nsv884637,nsv884640,nsv884589,nsv884608 M 6533 10 0 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA IS35682,IS38056,IS38386,IS40494,MS10843,MS15727,SP51293,SP54579,SP56173,SP81238 nsv821566 6 32060426 32067005 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420581 S 1 0 1 C4A,C4B,LOC100293534 NA10851 nsv515035 6 32061020 32066532 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627038 S 1414 0 0 C4A,C4B,LOC100293534 nsv819957 6 32064029 32109240 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418738 S 2 0 1 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA AK1 dgv6621n71 6 32064403 32089979 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884624,nsv884615,nsv884606,nsv884614 M 6533 5 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS39716,IS41783,MS11358,SP51170,SP81503 dgv6622n71 6 32064403 32091811 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884632,nsv884607,nsv884631,nsv884625,nsv884616,nsv884629 M 6533 15 23 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS30197,IS30226,IS30466,IS31800,IS32737,IS33504,IS35245,IS35581,IS36196,IS36458,IS38439,IS40738,MS10837,MS13774,MS14068,MS14368,MS15359,MS15808,MS16629,MS16809,MS18276,MS18848,MS18922,MS20041,MS20698,MS21891,MS22252,SP50592,SP50637,SP50830,SP50940,SP51376,SP53518,SP54043,SP56539,SP56842,SP57045,SP81131 nsv884617 6 32065343 32094298 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572520,nssv1586356,nssv1582854,nssv1521832,nssv1515941 M 6533 5 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS33115,IS36183,IS37752,SP52599,SP56319 dgv20n31 6 32066001 32121881 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471327,nsv471331,nsv471541,nsv471460 M 3 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB nsv884626 6 32067857 32094298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519161,nssv1576418 M 6533 0 2 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS34057,SP80970 nsv884627 6 32067857 32148971 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532397 S 6533 0 1 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA,TNXB MS10769 dgv6623n71 6 32070703 32091811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884630,nsv884648,nsv884635 M 6533 0 5 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS39233,IS40230,MS15084,SP53528,SP55992 dgv6624n71 6 32070703 32114582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884634,nsv884633 M 6533 0 2 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA IS35484,SP54681 dgv6625n71 6 32071423 32091811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884636,nsv884638,nsv884641,nsv884644,nsv884645,nsv884639 M 6533 7 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS40223,MS14683,SP50134,SP51419,SP52329,SP53399,SP57681 nsv823506 6 32071612 32082244 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436654 S 31 0 1 C4A,C4B,CYP21A1P,LOC100293534 NA18542 nsv823507 6 32071612 32104561 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433677 S 31 0 1 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA NA18526 esv32938 6 32071845 32082041 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97168 S 51 1 0 C4A,C4B,CYP21A1P,LOC100293534 22075 dgv6626n71 6 32073734 32089979 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884643,nsv884651,nsv884647,nsv884642 M 6533 6 10 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS36450,IS39321,MS13098,MS15030,MS16934,MS22297,MS25254,SP51042,SP52101,SP53914,SP54782,SP55369,SP55460,SP56841,SP57148,SP81543 dgv6627n71 6 32073734 32099671 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884646,nsv884652 M 6533 2 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA MS14923,SP58097 dgv6628n71 6 32076859 32091811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884650,nsv884656,nsv884649,nsv884653,nsv884655 M 6533 0 10 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS34381,MS10733,MS10925,SP50633,SP50721,SP53947,SP54006,SP56104,SP56248,SP56887 dgv6629n71 6 32079634 32099671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884654,nsv884662 M 6533 0 3 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA MS14323,MS17693,SP56689 nsv884657 6 32080012 32094298 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528624 S 6533 1 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA SP81326 dgv6630n71 6 32080012 32099671 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884658,nsv884659 M 6533 4 4 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS34630,IS35726,IS36298,IS37337,IS40618,MS17389,MS24719,MS25099 dgv6631n71 6 32080012 32114875 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884660,nsv884661 M 6533 0 2 C4A,C4B,CYP21A1P,CYP21A2,LOC100293534,STK19,TNXA IS38671,MS17536 nsv823508 6 32081818 32104765 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439698 S 31 1 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA NA18537 nsv884663 6 32084550 32099671 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590877 S 6533 1 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA IS38599 nsv884664 6 32084550 32108366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536633 S 6533 1 0 C4A,C4B,CYP21A1P,LOC100293534,STK19,TNXA MS12863 nsv285 6 32085024 32131194 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv285 S 1 0 1 C4A,C4B,CYP21A2,LOC100293534,STK19,TNXA,TNXB NA15510 nsv884665 6 32088124 32099671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589519 S 6533 0 1 C4A,C4B,LOC100293534,STK19,TNXA IS38379 nsv471443 6 32090550 32111173 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548290,nssv548292,nssv548291 M 3 C4A,C4B,LOC100293534 nsv510023 6 32091189 32097189 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621280,nssv622112 M 4 0 2 C4A,C4B,LOC100293534 NA10860,NA15510 nsv511870 6 32091757 32099558 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624402 S 1 0 1 C4A,C4B,LOC100293534 1 dgv6632n71 6 32093133 32108366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884666,nsv884668,nsv884667 M 6533 0 3 C4A,C4B,LOC100293534 IS35131,IS39414,MS12991 nsv499146 6 32093176 32099552 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585979 S 9 0 1 C4A,C4B,LOC100293534 dgv6633n71 6 32098076 32114582 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884669,nsv884670 M 6533 2 0 C4A,C4B,CYP21A2,LOC100293534 IS37752,SP81503 nsv884671 6 32100257 32125518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548187 S 6533 1 0 C4A,C4B,CYP21A2,LOC100293534,TNXB MS17730 dgv6634n71 6 32101416 32146528 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884684,nsv884672,nsv884675 M 6533 0 3 C4A,C4B,CYP21A2,LOC100293534,TNXB IS40230,MS16315,MS18276 nsv433379 6 32102419 32115844 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463260 S 9 1 0 Samples from several populations that are part of the HapMap project. C4A,C4B,CYP21A2,LOC100293534 NA12156 dgv6635n71 6 32102419 32125518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884681,nsv884673,nsv884674 M 6533 0 3 C4A,C4B,CYP21A2,LOC100293534,TNXB IS30197,IS32737,IS33504 dgv6636n71 6 32102850 32177784 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884678,nsv884676 M 6533 0 2 C4A,C4B,CYP21A2,LOC100293534,TNXB IS39233,MS17208 nsv884677 6 32103552 32114837 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524791 S 6533 1 0 C4A,C4B,CYP21A2,LOC100293534 SP55290 nsv5248 6 32103993 32127390 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6060,nssv4909 M 9 2 0 C4A,C4B,CYP21A2,LOC100293534,TNXB NA12156,NA19129 dgv6637n71 6 32105046 32122434 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884680,nsv884679 M 6533 2 0 C4A,C4B,CYP21A2,LOC100293534,TNXB IS36458,IS40849 nsv884682 6 32112472 32121869 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501571,nssv1500240 M 6533 2 0 CYP21A2,TNXB SP50535,SP50859 nsv884683 6 32112472 32125518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597285 S 6533 0 1 CYP21A2,TNXB IS40799 nsv884685 6 32118241 32137104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584788 S 6533 0 1 TNXB IS37172 dgv6638n71 6 32126866 32174003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884686,nsv884689 M 6533 0 2 TNXB IS33684,IS37646 nsv884687 6 32129744 32145689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571472 S 6533 0 1 TNXB IS32737 nsv884688 6 32132307 32156528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529800 S 6533 0 1 TNXB MS10123 nsv10825 6 32133710 32137570 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14518 S 31 0 1 Samples from several populations that are part of the HapMap project. TNXB NA19144 dgv6639n71 6 32151735 32174003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884692,nsv884691,nsv884690,nsv884693,nsv884694 M 6533 0 5 TNXB IS30369,IS33504,IS35484,IS37172,SP54956 nsv830629 6 32151956 32297765 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445363 S 95 0 1 AGER,AGPAT1,ATF6B,EGFL8,FKBPL,GPSM3,LOC100507547,NOTCH4,PBX2,PPT2,PPT2-EGFL8,PRRT1,RNF5,RNF5P1,TNXB dgv6640n71 6 32159175 32174003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884695,nsv884697,nsv884696 M 6533 0 4 TNXB IS32737,MS18276,SP54043,SP54988 dgv6641n71 6 32160876 32172243 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884698,nsv884700,nsv884699 M 6533 0 3 TNXB IS33239,IS39417,MS10698 nsv884701 6 32197527 32238307 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592628 S 6533 1 0 ATF6B,FKBPL,LOC100507547,PPT2,PPT2-EGFL8,PRRT1 IS39243 nsv884702 6 32202290 32216345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509858 S 6533 0 1 ATF6B,FKBPL SP54956 nsv884703 6 32220537 32231426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592180 S 6533 0 1 LOC100507547,PPT2,PPT2-EGFL8,PRRT1 IS39233 dgv6642n71 6 32223204 32230454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884704,nsv884705 M 6533 0 4 LOC100507547,PPT2,PPT2-EGFL8,PRRT1 IS40828,MS16315,MS17208,MS18276 nsv884706 6 32224291 32254470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530544 S 6533 0 1 AGPAT1,EGFL8,LOC100507547,PPT2,PPT2-EGFL8,PRRT1,RNF5,RNF5P1 MS10311 nsv884707 6 32240211 32254470 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543468 S 6533 0 1 AGPAT1,EGFL8,PPT2-EGFL8,RNF5,RNF5P1 MS16153 esv24778 6 32253020 32256085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11944 S 451 0 1 AGPAT1,RNF5,RNF5P1 NA12239 nsv462877 6 32259421 32285878 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538948 S 1557 0 1 AGER,GPSM3,NOTCH4,PBX2 1798860372_A dgv6643n71 6 32262976 32280344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884708,nsv884711 M 6533 0 3 GPSM3,NOTCH4,PBX2 MS10311,MS16153,MS17208 dgv6644n71 6 32263559 32274358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884713,nsv884709 M 6533 0 5 GPSM3,NOTCH4,PBX2 IS32737,IS33504,MS10698,MS16315,MS18276 dgv6645n71 6 32263559 32276573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884710,nsv884714 M 6533 0 2 GPSM3,NOTCH4,PBX2 IS33684,IS39233 nsv884712 6 32265342 32272040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576419,nssv1584790 M 6533 0 2 GPSM3,NOTCH4,PBX2 IS34057,IS37172 nsv884715 6 32268742 32276573 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595374 S 6533 0 1 GPSM3,NOTCH4 IS40230 nsv10826 6 32277318 32294474 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16583 S 31 0 1 Samples from several populations that are part of the HapMap project. NOTCH4 NA18972 nsv524299 6 32313023 32317005 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700200 S 2026 1 0 "" nsv349123 6 32330958 32330958 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367701 M 24 "" dgv6646n71 6 32331236 32394739 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884716,nsv884718,nsv884717,nsv884719 M 6533 0 4 C6orf10 IS31302,IS31373,IS34599,IS41317 nsv348996 6 32343057 32343284 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367574 M 24 "" dgv6647n71 6 32369631 32381607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884721,nsv884720 M 6533 0 2 C6orf10 MS13744,MS18003 dgv6648n71 6 32369631 32387318 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884722,nsv884723 M 6533 5 7 C6orf10 IS31179,IS31218,IS31602,IS32602,IS32644,IS36722,IS37116,IS38810,IS40067,IS40646,IS40728,IS41113 nsv884724 6 32369631 32387880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581835,nssv1569185,nssv1584567,nssv1569637 M 6533 0 4 C6orf10 IS31543,IS31652,IS35742,IS37065 dgv6649n71 6 32372803 32387318 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884727,nsv884726,nsv884725,nsv884730 M 6533 0 8 C6orf10 IS31187,IS31563,IS35107,IS36170,IS40819,IS41319,MS18847,MS23670 esv275065 6 32376466 32385911 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585344 S 1250 0 1 C6orf10 dgv6650n71 6 32376679 32386648 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884729,nsv884728 M 6533 3 0 C6orf10 IS33218,IS35506,IS41806 nsv830630 6 32392474 32562221 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445364 S 95 0 1 BTNL2,C6orf10,HCG23,HLA-DRA nsv884731 6 32415360 32437773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569412 S 6533 0 1 C6orf10 IS31576 dgv6651n71 6 32419437 32457924 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884733,nsv884732 M 6533 0 2 C6orf10 IS37226,IS37428 esv2569081 6 32421239 32422719 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271590 S 1 0 1 C6orf10 NA18507 esv2351738 6 32421547 32422274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498356 S 1 0 1 C6orf10 NA18507 esv3397 6 32421583 32422185 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25838 S 1 0 1 Single Asian sample YH C6orf10 YH esv7532 6 32421761 32422075 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29973 S 1 0 1 C6orf10 SJK esv1081136 6 32421761 32422084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927131 S 2 0 1 C6orf10 HuRef esv9046 6 32423411 32424241 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31487 S 1 0 1 C6orf10 SJK dgv6652n71 6 32447625 32457689 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884734,nsv884735 M 6533 2 7 C6orf10 IS30969,IS33196,IS33839,IS35189,IS36244,IS38123,IS38810,IS39718,IS40429 nsv884736 6 32451347 32458432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567196 S 6533 0 1 "" IS31046 dgv6653n71 6 32451347 32465111 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884737,nsv884738 M 6533 0 2 "" MS17114,MS17697 nsv509127 6 32453082 32464592 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619446 S 4 1 0 "" NA10860 nsv528483 6 32454772 32456123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705086 S 2026 0 1 "" nsv884739 6 32455468 32463583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573053 S 6533 0 1 "" IS33239 esv1719294 6 32461855 32461916 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067288 S 2 0 1 "" HuRef nsv7882 6 32465721 32477790 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13642,nssv16613 M 31 0 2 Samples from several populations that are part of the HapMap project. BTNL2,HCG23 NA18942,NA18972 dgv1011n67 6 32466239 32478617 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823510,nsv823511 M 31 0 2 BTNL2,HCG23 AK8,NA18947 nsv884740 6 32466491 32472168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499701 S 6533 0 1 BTNL2,HCG23 SP50073 nsv823512 6 32469764 32470418 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429088 S 31 0 1 "" AK12 nsv884741 6 32474995 32478794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503276 S 6533 0 1 BTNL2 SP52020 esv33644 6 32475132 32479820 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95650 S 51 0 1 BTNL2 21841 dgv1012n67 6 32479317 32480493 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823513,nsv823514 M 31 0 2 BTNL2 AK12,NA18592 dgv1930e1 6 32479731 32665861 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12706,essv1875,essv18212,essv8835,essv9788,essv11085,essv12002,essv15890,essv63,essv11827,essv16964,essv3872,essv24896,essv1256,essv10728,essv23234,essv1356,essv11687,essv22057,essv8746,essv919,essv1523,essv17465,essv24759,essv21279,essv9223,essv20388,essv12506,essv17531,essv4554,essv15757,essv7176,essv9590,essv16724,essv5589,essv15207,essv14891,essv13791,essv20775,essv18940,essv24428,essv9439,essv16479,essv9083,essv8612,essv19225,essv9314,essv17650,essv4627,essv11574,essv17259,essv14075,essv6885,essv12972,essv23872,essv532,essv7267,essv23803,essv17187,essv10444,essv24871,essv2845,essv11883,essv15704,essv9664,essv10911,essv21519,essv3047,essv4729,essv18713,essv3815,essv22377,essv1439,essv22346,essv14713,essv22844,essv6561,essv8086,essv24968,essv8221,essv9119,essv17836,essv12229,essv9919,essv10328 M 271 0 0 BTNL2,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 NA06985,NA06994,NA07000,NA07029,NA10830,NA10831,NA10838,NA10839,NA10855,NA10860,NA11881,NA12004,NA12005,NA12043,NA12057,NA12146,NA12154,NA12707,NA12762,NA12763,NA12814,NA12873,NA12874,NA12875,NA18503,NA18506,NA18508,NA18515,NA18517,NA18521,NA18522,NA18523,NA18524,NA18529,NA18547,NA18592,NA18594,NA18605,NA18620,NA18621,NA18853,NA18859,NA18860,NA18861,NA18863,NA18912,NA18913,NA18914,NA18943,NA18944,NA18953,NA18976,NA18980,NA18981,NA18991,NA18994,NA18995,NA18998,NA19000,NA19007,NA19092,NA19094,NA19101,NA19116,NA19128,NA19131,NA19132,NA19141,NA19142,NA19144,NA19145,NA19153,NA19154,NA19159,NA19171,NA19173,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19223,NA19239 dgv1931e1 6 32479731 32813412 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3226,essv22650,essv9998,essv12349,essv14175,essv8307,essv18158,essv6388,essv16453,essv10584,esv126,essv19550,essv21992,essv7044,essv20159,essv15513,essv15612,essv141 M 271 0 0 BTNL2,HLA-DQA1,HLA-DQB1,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 NA11832,NA11993,NA11995,NA12752,NA12864,NA18505,NA18572,NA18612,NA18968,NA18974,NA19099,NA19103,NA19137,NA19138,NA19139,NA19140,NA19240 nsv428142 6 32479731 32875330 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450707,nssv450705,nssv450659,nssv450703,nssv450658,nssv450692,nssv450724,nssv450728,nssv450730,nssv450656,nssv450690,nssv450713,nssv450722,nssv450689,nssv450734,nssv450716,nssv450712,nssv450683,nssv450719,nssv450725,nssv450700,nssv450723,nssv450735,nssv450704,nssv450699,nssv450693,nssv450729,nssv450696,nssv450701,nssv450710,nssv450682,nssv450694,nssv450715,nssv450711,nssv450718,nssv450688,nssv450695,nssv450726,nssv450691,nssv450721,nssv450708,nssv450733,nssv450654,nssv450657,nssv450706,nssv450727,nssv450702,nssv450717,nssv450732,nssv450697,nssv450685,nssv450655,nssv450714 M 62 22 27 BTNL2,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19181,NA19189,NA19225,NA19257 nsv511871 6 32484959 32487320 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624403 S 1 0 1 "" 1 esv2620531 6 32485316 32487149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390101 S 1 0 1 "" NA18507 esv2217750 6 32485650 32486827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610882 S 1 0 1 "" NA18507 esv4121 6 32485828 32486738 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26562 S 1 0 1 Single Asian sample YH "" YH esv9125 6 32485871 32486687 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31566 S 1 0 1 "" SJK esv1313485 6 32485882 32486648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173960 S 2 0 1 "" HuRef nsv830631 6 32491645 32694093 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445367,nssv1445368,nssv1445369,nssv1445366,nssv1445365 M 95 5 0 HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 nsv884742 6 32496687 32508322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576616 S 6533 0 1 "" IS34185 dgv1932e1 6 32503398 32593944 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14383,essv12476,essv24474,essv669,essv7149,essv18165,essv1834,essv8857,essv20220,essv8488,essv14584,essv16543,essv3486,essv6340,essv20392,essv1290,essv11903,essv10011,essv9211,essv22169,essv22557,essv11880,essv20049,essv15260,essv4822,essv18069,essv10542,essv10806,essv12187,essv16146,essv16039,essv24055,essv23998,essv4194,essv6629,essv319,essv18598,essv12802,essv20109,essv22064,essv4469,essv270,essv3301,essv9894,essv22938,essv5303,essv13573,essv10084,essv4880,essv18427,essv6752,essv11771,essv15610,essv15877,essv16410,essv6657,essv14141,essv2818,essv20313,essv21780,essv16653,essv22628,essv21691,essv7364,essv18402,essv20164,essv16926,essv5998,essv802,essv21012,essv11733,essv13663,essv24567,essv8959,essv18864,essv23136,essv6393,essv13771,essv14342,essv11151,essv4664,essv11518,essv5045,essv13454,essv23357,essv9611,essv6282,essv20897,essv8129,essv7114,essv24533,essv22488,essv12530,essv17630,essv10654,essv17346,essv13190,essv11426,essv8370,essv3122,essv8202,essv15393,essv17135,essv21163,essv5922,essv18149,essv8780,essv21187,essv17778,essv5266,essv12401,essv14964,essv10865,essv19079,essv17086,essv9425,essv3967,essv16790,essv15626,essv19187,essv2541,essv21982,essv16226,essv18304,essv15032,essv9685,essv14485,essv12740,essv2350,essv24305,essv1587,essv21814,essv21444,essv5814,essv5122,essv17926,essv3349,essv6956,essv21327,essv3711,essv5224,essv10364,essv24151,essv13623,essv20639,essv2052,essv23024,essv1161,essv20615,essv466,essv6825,essv1033,essv4810,essv1915,essv14703,essv10886,essv1089,essv11018,essv3208,essv2245,essv2628,essv15487,essv22192,essv145,essv10238,essv7003,essv21253,essv10349 M 271 0 0 HLA-DRA,HLA-DRB5 NA06991,NA07048,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10846,NA10847,NA10855,NA10856,NA10857,NA10859,NA11830,NA11831,NA11832,NA11839,NA11882,NA11992,NA11993,NA11995,NA12003,NA12044,NA12056,NA12057,NA12144,NA12145,NA12154,NA12234,NA12236,NA12239,NA12248,NA12249,NA12716,NA12717,NA12750,NA12751,NA12752,NA12753,NA12801,NA12802,NA12812,NA12815,NA12865,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18506,NA18507,NA18508,NA18516,NA18523,NA18526,NA18537,NA18540,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18594,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18624,NA18636,NA18855,NA18856,NA18857,NA18858,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18945,NA18947,NA18949,NA18951,NA18952,NA18959,NA18964,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18987,NA18992,NA18995,NA19003,NA19005,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19137,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19200,NA19202,NA19203,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19240 nsv823515 6 32504396 32506865 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426703 S 31 0 1 "" AK6 nsv823516 6 32506490 32506935 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440251,nssv1428309 M 31 0 2 "" AK10,NA18547 esv21985 6 32519885 32887855 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16480,esv12942,esv19417,esv20855,esv11450,esv12730,esv13326,esv19501,esv12240,esv13079,esv11811,esv11852,esv12537,esv10078,esv12459,esv17640,esv17874,esv14415,esv10281,esv11986,esv18084,esv20802,esv9804,esv13711,esv14863,esv18185,esv15308,esv18588,esv13011,esv17746,esv13107,esv12761,esv15932,esv15803,esv18770,esv16386,esv19484,esv21164,esv13085,esv15087,esv19456,esv18428,esv9939,esv17147,esv14871,esv13883,esv19763,esv20089,esv20369,esv21088,esv14486,esv18700,esv14481,esv16645,esv18530,esv14005,esv20758,esv20761,esv10001,esv16553,esv10892,esv12371,esv18723,esv10949,esv14912,esv13755,esv17788,esv18011,esv13379,esv16828,esv20010 M 451 39 26 HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33476 6 32519964 32760940 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98794,essv98790,essv98770,essv98911,essv98833,essv98713,essv98710,essv98709,essv98708,essv98665,essv98810,essv98804,essv97559,essv97510,essv97549,essv101154,essv101112,essv101123,essv101174,essv101191,essv101197,essv101200,essv101225,essv93946,essv93909,essv93840,essv100874,essv96867,essv96872,essv96845,essv96850,essv96788,essv100959,essv100926,essv101090,essv100981,essv95072,essv95171,essv95114,essv95196,essv98285,essv98267,essv98248,essv98203,essv98202,essv98192,essv98185,essv98160,essv94735,essv94788,essv94791,essv94821,essv94656,essv94651,essv94130,essv94104,essv94097,essv94093,essv94081,essv94015,essv101404,essv94313,essv94320,essv94438,essv94394,essv94382,essv94353,essv94349,essv97019,essv97016,essv97012,essv96998,essv96917,essv96913,essv96904,essv96899,essv97047,essv97031,essv97947,essv97931,essv97926,essv97873,essv97872,essv97871,essv97864,essv97857,essv97835,essv95635,essv95716,essv95722,essv95729,essv95749,essv95756,essv95598,essv95569,essv95675,essv95424,essv95455,essv95511,essv95547,essv93170,essv93169,essv93150,essv93130,essv93128,essv93125,essv93096,essv93082,essv93063,essv93033,essv93008,essv93003,essv95298,essv95317,essv95332,essv95360,essv95364,essv95404,essv97390,essv97379,essv97365,essv97343,essv97324,essv97319,essv97305,essv97453,essv97439,essv97435,essv97432,essv97419,essv97418,essv101787,essv101773,essv101757,essv101743,essv101742,essv101729,essv101715,essv101692,essv95888,essv95850,essv95765,essv95763,essv95924,essv94539,essv94519,essv99023,essv99025,essv99029,essv92910,essv92946,essv92950,essv92984,essv92997,essv92694,essv92728,essv92736,essv92747,essv92795,essv92829,essv92831,essv93688,essv93662,essv93714,essv96102,essv96111,essv96222,essv96203,essv96181,essv96682,essv96678,essv96665,essv96653,essv96631,essv96624,essv96612,essv96607,essv96731,essv96717,essv96713,essv96703,essv97103,essv97107,essv97134,essv97140,essv97154,essv99999,essv99965,essv99954,essv99953,essv99816,essv99831,essv99849,essv95930,essv95997,essv96032,essv96075,essv93580,essv93584,essv93585,essv93429,essv93446,essv93457,essv93464,essv93466,essv93526,essv93527,essv93528,essv93529,essv93534,essv93570,essv93359,essv93337,essv93321,essv93293,essv93284,essv93235,essv93221,essv93181,essv99738,essv99727,essv99723,essv99720,essv99657,essv94859,essv94868,essv94897,essv94941,essv94953,essv94954,essv94970,essv94971,essv95003,essv95008,essv95014,essv95044,essv92636,essv92555,essv92512,essv92556,essv92561,essv92589,essv92603,essv98043,essv98077,essv98083,essv98088,essv98117,essv98121,essv97978,essv97988,essv98029,essv96533,essv96555,essv96573,essv96452,essv96445,essv99339,essv99209,essv99180,essv97613,essv97648,essv97661,essv97697,essv97786,essv100205,essv100271,essv100147,essv100149,essv100181,essv100184,essv100192,essv100615,essv100597,essv100621,essv100460,essv100465,essv100516,essv100492,essv100482,essv100428,essv100416,essv100343,essv98519,essv98468,essv98466,essv98418,essv98373,essv98359,essv98357,essv98348,essv96410,essv96383,essv96369,essv96361,essv96301,essv96278,essv96418,essv94287,essv94278,essv94263,essv94218,essv94181,essv94170,essv94167,essv94166 M 51 47 38 HLA-DQA1,HLA-DQB1,HLA-DRA,HLA-DRB1,HLA-DRB5,HLA-DRB6 21606,21616,21618,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22278,22286,22298,22300,22352,22371,22394 esv2102256 6 32524734 32525217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734980 S 1 0 1 "" NA18507 nsv884743 6 32525108 32674134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600091 S 6533 0 1 HLA-DRB1,HLA-DRB5,HLA-DRB6 IS41839 dgv1933e1 6 32528488 32665861 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21850,essv22538,essv3291,essv16164,essv7135,essv24072,essv20104,essv21716,essv23615,essv22310,essv21017,essv23381,essv6285,essv17649,essv19253,essv24964,essv17090,essv5181,essv16768,essv19181,essv21534,essv17947,essv2234,essv19020,essv1923,essv1142,essv3130,essv7846,essv13182 M 271 0 0 HLA-DRB1,HLA-DRB5,HLA-DRB6 NA06985,NA06991,NA07048,NA07348,NA10838,NA10839,NA10859,NA11839,NA11881,NA12003,NA12005,NA12006,NA12248,NA12750,NA12865,NA12873,NA18537,NA18558,NA18611,NA18636,NA18872,NA18959,NA18964,NA18966,NA18969,NA18972,NA19100,NA19102,NA19172 dgv6654n71 6 32533650 32542917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884746,nsv884745,nsv884744 M 6533 0 3 "" SP50877,SP52439,SP54489 esv259692 6 32535330 32535766 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400369,essv2399845,essv2394898,essv2400397 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18555,NA18573,NA18942,NA18960 nsv884747 6 32536895 32550064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588831 S 6533 0 1 "" IS38258 nsv884748 6 32536895 32563460 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592629 S 6533 1 0 "" IS39243 nsv884749 6 32536895 32598637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558359 S 6533 0 1 HLA-DRB5 MS23237 nsv7883 6 32538477 32763421 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15519,nssv15399,nssv13061,nssv17010,nssv15126,nssv17190,nssv14836,nssv16814,nssv14838,nssv13241,nssv15368,nssv12979,nssv14688,nssv13792,nssv14806,nssv14508,nssv13997,nssv16934,nssv16161,nssv16703,nssv14036,nssv14448,nssv15241,nssv15548,nssv14614,nssv16994,nssv17070,nssv14467,nssv14117,nssv14638,nssv14728,nssv16137,nssv14818,nssv14276,nssv16694,nssv14207,nssv14808,nssv16311,nssv16063,nssv15732,nssv15489,nssv14639,nssv16860,nssv14437,nssv16950,nssv14246,nssv16980,nssv13069,nssv13009,nssv14180,nssv14156,nssv13480,nssv16673,nssv14896,nssv16047,nssv14849,nssv12949,nssv14126,nssv16221,nssv15338,nssv14237,nssv16281,nssv14674,nssv14265,nssv15309,nssv14698,nssv14866,nssv13271,nssv16341,nssv15973,nssv13945,nssv14703,nssv14155,nssv16643,nssv13672,nssv15458,nssv14064,nssv16904,nssv16167,nssv14793,nssv14668,nssv15642,nssv13129,nssv16874,nssv13976,nssv16634,nssv15339,nssv13181,nssv14267,nssv13390,nssv14579,nssv14848,nssv14210,nssv15913,nssv16213,nssv16964,nssv17040,nssv17024,nssv14669,nssv14135,nssv16401,nssv14644,nssv14673,nssv13975,nssv13912,nssv13249,nssv14568,nssv16077,nssv15672,nssv16003,nssv14147,nssv15308,nssv13039,nssv16287,nssv13510,nssv14154,nssv14240,nssv16273,nssv15066,nssv14729,nssv14222,nssv16544,nssv16197,nssv13915,nssv16514,nssv14716,nssv14287,nssv14035,nssv13852,nssv16257,nssv14478,nssv14295,nssv14120,nssv13702,nssv16484,nssv14165,nssv14628,nssv14609,nssv14252,nssv13121,nssv14060,nssv14598,nssv14186,nssv16800,nssv13309,nssv16724,nssv14066,nssv16371,nssv14245,nssv16604,nssv14027,nssv13540,nssv13885,nssv16153,nssv14105,nssv14030,nssv16574,nssv16191,nssv14177,nssv14185,nssv14150,nssv14282,nssv16347,nssv13942,nssv16830,nssv14215,nssv13732,nssv14878,nssv14312,nssv14317,nssv14270,nssv14006,nssv16784,nssv17160,nssv14819,nssv15518,nssv15369,nssv14608,nssv16243,nssv13882,nssv16303,nssv14355,nssv14658,nssv16664,nssv14946,nssv16123,nssv14124,nssv16227,nssv14976,nssv15943,nssv14578,nssv13450,nssv14195,nssv13360,nssv14325,nssv14065,nssv16333,nssv13159,nssv14057,nssv14699,nssv15271,nssv16317,nssv14216,nssv13330,nssv14686,nssv16251,nssv13189,nssv17130,nssv14347,nssv15702,nssv14192,nssv14005,nssv15488,nssv14377,nssv13211,nssv15549,nssv13822,nssv14538,nssv16740,nssv14548,nssv16890,nssv13219,nssv14718,nssv14257,nssv15279,nssv14125,nssv16844,nssv15398,nssv15612,nssv13279,nssv15006,nssv16920,nssv16033,nssv16017,nssv13151,nssv15459,nssv16183,nssv14227,nssv14162,nssv15036 M 31 30 25 Samples from several populations that are part of the HapMap project. HLA-DQA1,HLA-DQB1,HLA-DRB1,HLA-DRB5,HLA-DRB6 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv884750 6 32539336 32556741 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553803,nssv1548232 M 6533 1 1 "" MS17755,MS20305 dgv6655n71 6 32539336 32563460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884751,nsv884752,nsv884754 M 6533 0 3 "" IS38380,IS41819,MS21100 nsv442978 6 32539530 32681749 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HLA-DRB1,HLA-DRB5,HLA-DRB6 esv989366 6 32539895 32540555 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586059 S 3 1 0 "" HuRef nsv511120 6 32539973 32901449 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624304,nssv622374 M 4 0 0 HLA-DOB,HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2,HLA-DRB1,HLA-DRB5,HLA-DRB6,TAP2 NA10860,NA18994 nsv884753 6 32541145 32639723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598701 S 6533 0 1 HLA-DRB5,HLA-DRB6 IS41263 dgv6656n71 6 32546626 32608853 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884768,nsv884761,nsv884767,nsv884781,nsv884787,nsv884788,nsv884789,nsv884790,nsv884766,nsv884777,nsv884755,nsv884760,nsv884778,nsv884780,nsv884769,nsv884779,nsv884770 M 6533 28 0 HLA-DRB5 IS30345,IS30351,IS31022,IS31113,IS31371,IS32602,IS34432,IS34434,IS34970,IS35982,IS38198,IS38226,IS38444,IS38600,IS39881,IS39886,IS40618,IS40886,IS41576,MS10433,MS11237,MS11703,MS11726,MS11823,MS12092,MS13538,SP54196,SP81003 dgv6657n71 6 32548027 32563460 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884763,nsv884756,nsv884762,nsv884758 M 6533 33 33 "" IS30280,IS30369,IS30547,IS30593,IS31054,IS31228,IS31445,IS31553,IS31652,IS31879,IS32289,IS32644,IS32828,IS33196,IS33261,IS34489,IS34964,IS36244,IS36752,IS38123,IS38148,IS38162,IS38258,IS38378,IS38594,IS39626,IS39716,IS39923,IS40950,IS41113,IS41340,IS41771,IS41832,MS10150,MS10301,MS11135,MS11919,MS12154,MS12551,MS13168,MS13373,MS14953,MS15511,MS16164,MS16398,MS16411,MS16722,MS17399,MS17642,MS17773,MS20146,MS20200,MS22109,MS23713,MS24330,MS24550,MS25193,MS25308,MS25864,MS26049,SP50679,SP51221,SP52863,SP53332,SP81157,SP81582 dgv6658n71 6 32548027 32567928 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884764,nsv884757 M 6533 2 0 "" IS38438,MS26121 dgv6659n71 6 32549254 32569686 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884759,nsv884776 M 6533 0 2 "" IS34599,IS38065 nsv884765 6 32550064 32586132 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598223 S 6533 1 0 "" IS40947 dgv6660n71 6 32550064 32650822 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884772,nsv884841,nsv884840,nsv884782,nsv884783,nsv884806,nsv884807,nsv884844,nsv884843,nsv884842,nsv884839,nsv884846,nsv884845,nsv884859,nsv884860,nsv884868,nsv884805,nsv884771 M 6533 55 0 HLA-DRB5,HLA-DRB6 IS30127,IS30278,IS33935,IS35408,IS35538,IS35545,IS37817,IS38067,IS38399,IS40738,IS41971,MS10517,MS10544,MS10896,MS11616,MS11733,MS11883,MS12018,MS12206,MS12624,MS12630,MS12837,MS12947,MS13448,MS13716,MS13783,MS13932,MS14222,MS14318,MS14368,MS14374,MS14683,MS16242,MS16824,MS17865,MS18329,MS18400,MS18682,MS18910,MS18935,MS20302,MS20367,MS20969,MS20996,MS21532,MS21833,MS22262,MS22619,MS26128,MS26137,MS26144,SP50537,SP50743,SP55847,SP56294 dgv6661n71 6 32550239 32563460 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884773,nsv884774,nsv884784,nsv884775 M 6533 0 7 "" SP50087,SP50521,SP54753,SP56085,SP56116,SP56143,SP56267 dgv6662n71 6 32551429 32565228 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884785,nsv884786 M 6533 3 0 "" IS34397,SP50896,SP55514 esv6128 6 32556714 32600493 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28569 S 1 0 1 HLA-DRB5 SJK dgv6663n71 6 32556741 32601256 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884791,nsv884801,nsv884810,nsv884823,nsv884822,nsv884821,nsv884820,nsv884827,nsv884832,nsv884852,nsv884857,nsv884856,nsv884825,nsv884800,nsv884866,nsv884854 M 6533 300 2974 HLA-DRB5 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SP58400,SP58404,SP58408,SP58409,SP58432,SP58433,SP58462,SP58465,SP58467,SP58480,SP58502,SP58505,SP58536,SP58537,SP58557,SP58558,SP80913,SP80914,SP80916,SP80917,SP80919,SP80930,SP80931,SP80932,SP80936,SP80938,SP80943,SP80945,SP80947,SP80953,SP80955,SP80961,SP80967,SP80970,SP80971,SP80980,SP80994,SP81006,SP81009,SP81015,SP81019,SP81020,SP81030,SP81033,SP81036,SP81046,SP81059,SP81067,SP81068,SP81072,SP81076,SP81077,SP81088,SP81090,SP81097,SP81105,SP81106,SP81107,SP81108,SP81109,SP81114,SP81117,SP81127,SP81132,SP81141,SP81143,SP81144,SP81145,SP81146,SP81149,SP81156,SP81157,SP81158,SP81187,SP81189,SP81191,SP81194,SP81197,SP81203,SP81211,SP81222,SP81238,SP81240,SP81243,SP81250,SP81254,SP81255,SP81263,SP81264,SP81266,SP81275,SP81276,SP81335,SP81339,SP81347,SP81348,SP81349,SP81352,SP81354,SP81355,SP81356,SP81359,SP81361,SP81363,SP81365,SP81386,SP81387,SP81388,SP81397,SP81403,SP81407,SP81409,SP81412,SP81416,SP81417,SP81431,SP81437,SP81438,SP81440,SP81448,SP81454,SP81459,SP81461,SP81464,SP81467,SP81469,SP81475,SP81481,SP81485,SP81488,SP81491,SP81500,SP81501,SP81504,SP81505,SP81507,SP81508,SP81512,SP81513,SP81534,SP81536,SP81543,SP81553,SP81554,SP81556,SP81560,SP81562,SP81566,SP81582 dgv6664n71 6 32557389 32593470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884792,nsv884798,nsv884818,nsv884809,nsv884816,nsv884819,nsv884870,nsv884851,nsv884817 M 6533 0 597 HLA-DRB5 IS30035,IS30081,IS30097,IS30111,IS30143,IS30147,IS30149,IS30150,IS30152,IS30238,IS30243,IS30244,IS30255,IS30270,IS30275,IS30280,IS30284,IS30292,IS30365,IS30378,IS30411,IS30478,IS30483,IS30487,IS30504,IS30508,IS30515,IS30542,IS30547,IS30593,IS30597,IS30605,IS30620,IS30635,IS30653,IS30667,IS30764,IS30837,IS31021,IS31062,IS31074,IS31098,IS31117,IS31123,IS31193,IS31211,IS31233,IS31286,IS31330,IS31334,IS31385,IS31396,IS31441,IS31481,IS31652,IS31706,IS31765,IS31816,IS31821,IS31832,IS31861,IS31915,IS32282,IS32343,IS32518,IS32686,IS32891,IS33136,IS33178,IS33258,IS33361,IS33514,IS33519,IS33551,IS33576,IS33587,IS33675,IS33684,IS33689,IS33711,IS33721,IS33747,IS33760,IS33792,IS33795,IS33800,IS33865,IS34047,IS34066,IS34083,IS34374,IS34382,IS34393,IS34489,IS34549,IS34748,IS34749,IS34769,IS34779,IS34786,IS34797,IS34804,IS34805,IS34820,IS34951,IS35028,IS35053,IS35111,IS35119,IS35131,IS35138,IS35142,IS35161,IS35179,IS35227,IS35231,IS35270,IS35358,IS35403,IS35411,IS35412,IS35441,IS35475,IS35505,IS35558,IS35565,IS35571,IS35605,IS35667,IS35903,IS35974,IS36077,IS36098,IS36117,IS36131,IS36141,IS36179,IS36320,IS36330,IS36364,IS36458,IS36527,IS36552,IS36667,IS36735,IS36772,IS36820,IS36825,IS36854,IS36893,IS36899,IS36936,IS36955,IS36973,IS36992,IS37040,IS37043,IS37110,IS37149,IS37157,IS37214,IS37247,IS37270,IS37393,IS37443,IS37446,IS37543,IS37550,IS37645,IS37698,IS37713,IS37744,IS37820,IS37888,IS37892,IS37960,IS37990,IS37999,IS38002,IS38008,IS38031,IS38063,IS38072,IS38111,IS38128,IS38129,IS38137,IS38141,IS38142,IS38148,IS38152,IS38162,IS38179,IS38180,IS38187,IS38199,IS38225,IS38246,IS38251,IS38254,IS38262,IS38265,IS38293,IS38334,IS38336,IS38362,IS38380,IS38388,IS38390,IS38394,IS38411,IS38417,IS38445,IS38446,IS38448,IS38455,IS38463,IS38479,IS38484,IS38492,IS38507,IS38513,IS38516,IS38541,IS38557,IS38582,IS38583,IS38594,IS38603,IS38612,IS38618,IS38620,IS38624,IS38635,IS38651,IS38659,IS38663,IS38665,IS38736,IS38810,IS38818,IS38962,IS38994,IS39095,IS39102,IS39125,IS39181,IS39243,IS39369,IS39399,IS39407,IS39420,IS39464,IS39503,IS39515,IS39516,IS39517,IS39521,IS39625,IS39626,IS39646,IS39650,IS39687,IS39716,IS39718,IS39722,IS39914,IS39923,IS39999,IS40062,IS40063,IS40076,IS40098,IS40103,IS40197,IS40222,IS40224,IS40227,IS40254,IS40347,IS40380,IS40416,IS40458,IS40471,IS40492,IS40557,IS40573,IS40581,IS40606,IS40636,IS40665,IS40707,IS40729,IS40730,IS40815,IS40831,IS40839,IS40925,IS40950,IS40955,IS41043,IS41054,IS41098,IS41113,IS41179,IS41202,IS41213,IS41296,IS41340,IS41672,IS41687,IS41809,IS41810,IS41832,IS41837,IS41838,IS41847,IS41853,IS41860,IS41862,IS41863,IS41874,IS41877,IS41887,IS41903,IS41926,IS41937,IS41955,IS41984,IS41997,MS10102,MS10195,MS10330,MS10465,MS10580,MS10733,MS10837,MS10950,MS10999,MS11061,MS11332,MS11355,MS11666,MS11750,MS11836,MS12109,MS12209,MS12387,MS12406,MS12609,MS12986,MS13050,MS13228,MS13253,MS13254,MS13373,MS13444,MS13512,MS13549,MS13758,MS13791,MS13916,MS14250,MS14359,MS14634,MS14717,MS14801,MS15094,MS15453,MS15511,MS15803,MS15907,MS15940,MS16008,MS16209,MS16228,MS16385,MS16398,MS16708,MS16709,MS17128,MS17285,MS17431,MS17802,MS17970,MS18170,MS18195,MS18240,MS18274,MS18278,MS18529,MS18531,MS19135,MS19292,MS19502,MS19571,MS19652,MS19771,MS20073,MS20346,MS20563,MS20616,MS20925,MS21180,MS21189,MS21536,MS21706,MS21717,MS21732,MS21737,MS21925,MS22103,MS22122,MS22179,MS22611,MS22705,MS22770,MS22797,MS23143,MS23160,MS23290,MS23488,MS23531,MS23703,MS23770,MS23871,MS24207,MS24285,MS24587,MS24620,MS25244,MS25255,SP50171,SP50521,SP50571,SP50574,SP50598,SP50622,SP50679,SP50690,SP50713,SP50720,SP50798,SP50809,SP50827,SP50843,SP50855,SP50896,SP50908,SP50916,SP50979,SP50996,SP51056,SP51067,SP51108,SP51142,SP51178,SP51221,SP51234,SP51235,SP51238,SP51241,SP51256,SP51260,SP51265,SP51267,SP51296,SP51402,SP51411,SP51439,SP52055,SP52057,SP52147,SP52174,SP52187,SP52193,SP52224,SP52298,SP52313,SP52350,SP52376,SP52381,SP52438,SP52440,SP52456,SP52475,SP52506,SP52518,SP52531,SP52562,SP52572,SP52582,SP52594,SP52612,SP52627,SP52656,SP53068,SP53154,SP53184,SP53240,SP53250,SP53527,SP53803,SP53834,SP53895,SP53969,SP53972,SP54006,SP54050,SP54057,SP54063,SP54078,SP54177,SP54249,SP54299,SP54317,SP54429,SP54478,SP54559,SP54657,SP54661,SP54761,SP54769,SP54792,SP54875,SP54941,SP54988,SP55102,SP55183,SP55277,SP55278,SP55346,SP55382,SP55394,SP55451,SP55488,SP55498,SP55652,SP55663,SP55789,SP56012,SP56023,SP56223,SP56271,SP56304,SP56307,SP56350,SP56582,SP56789,SP56874,SP56878,SP56904,SP56926,SP56927,SP56950,SP56971,SP57010,SP57045,SP57067,SP57268,SP57292,SP57367,SP57545,SP57600,SP57651,SP57789,SP57891,SP57958,SP57959,SP58031,SP58090,SP58208,SP58209,SP58316,SP58382,SP58389,SP58450,SP58548,SP58553,SP58556,SP58581,SP80924,SP80928,SP80960,SP80992,SP81010,SP81085,SP81095,SP81099,SP81120,SP81181,SP81242,SP81353,SP81399,SP81408,SP81432,SP81453 dgv6665n71 6 32557633 32601256 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884824,nsv884794,nsv884799,nsv884802,nsv884803,nsv884853,nsv884865,nsv884864,nsv884873,nsv884874,nsv884872,nsv884793 M 6533 21 0 HLA-DRB5 IS30179,IS35129,IS35165,IS35222,IS35523,IS35528,IS35582,IS36258,IS39022,IS39361,IS39931,SP50532,SP54393,SP55056,SP55131,SP55465,SP56862,SP57163,SP57610,SP58305,SP81578 dgv1013n67 6 32557918 32744449 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823517,nsv823538,nsv823529 M 31 0 3 HLA-DQA1,HLA-DQB1,HLA-DRB1,HLA-DRB5,HLA-DRB6 NA18537,NA18947,NA18968 nsv471491 6 32558001 32598262 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547819 S 3 HLA-DRB5 dgv6666n71 6 32558099 32588491 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884795,nsv884797,nsv884796,nsv884850,nsv884862,nsv884815 M 6533 9 0 "" IS30720,IS35470,IS38161,IS41066,SP52571,SP54680,SP57717,SP58575,SP81198 dgv6667n71 6 32558099 32608853 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884804,nsv884833,nsv884835 M 6533 3 0 HLA-DRB5 IS33763,IS37985,SP55279 dgv6668n71 6 32558099 32677665 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884847,nsv884861,nsv884848,nsv884808 M 6533 5 0 HLA-DRB1,HLA-DRB5,HLA-DRB6 IS35510,IS41791,MS16697,MS18537,SP57856 esv1007504 6 32558477 32634909 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586786 S 3 1 0 HLA-DRB5,HLA-DRB6 HuRef dgv1014n67 6 32559857 32631468 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823528,nsv823527,nsv823526,nsv823518,nsv823525 M 31 0 5 HLA-DRB5,HLA-DRB6 AK10,AK2,AK20,NA18582,NA18973 dgv6669n71 6 32560011 32604726 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884829,nsv884834,nsv884830,nsv884811,nsv884828,nsv884826,nsv884831,nsv884855,nsv884867 M 6533 0 62 HLA-DRB5 IS30317,IS31283,IS32289,IS33196,IS35088,IS38065,IS38271,IS40188,MS22353,SP50025,SP50097,SP50559,SP50829,SP51016,SP51019,SP51132,SP51353,SP51485,SP52113,SP52378,SP52399,SP52732,SP52914,SP53347,SP54173,SP54402,SP54456,SP54461,SP54509,SP54720,SP54725,SP55310,SP55671,SP55747,SP55795,SP55835,SP56005,SP56013,SP56032,SP56085,SP56116,SP56154,SP56200,SP56207,SP56267,SP56794,SP56828,SP56880,SP56991,SP57408,SP57418,SP57443,SP57449,SP57453,SP57482,SP57921,SP57925,SP58561,SP80925,SP80957,SP80975,SP81389 nsv823519 6 32560133 32596317 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430613 S 31 0 1 HLA-DRB5 AK16 dgv6670n71 6 32560168 32576147 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884814,nsv884813,nsv884812,nsv884849 M 6533 0 59 "" IS35205,IS37172,IS40267,IS41868,IS41940,MS15090,MS16265,MS17489,MS17508,MS19365,MS21195,MS21738,SP50027,SP50548,SP50569,SP50586,SP50857,SP50914,SP51179,SP51182,SP51254,SP51279,SP51388,SP51436,SP52027,SP52419,SP52448,SP52500,SP52573,SP53528,SP53734,SP53987,SP54069,SP54095,SP54294,SP54816,SP55026,SP55074,SP55265,SP55677,SP55690,SP55695,SP55829,SP56079,SP56104,SP56107,SP56119,SP56125,SP56128,SP56330,SP56396,SP56505,SP56734,SP56887,SP56947,SP81047,SP81073,SP81172,SP81239 dgv6671n71 6 32560168 32628011 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884838,nsv884836,nsv884858,nsv884837 M 6533 6 0 HLA-DRB5 MS13800,MS16699,MS17373,MS20120,MS24529,SP52064 esv2459937 6 32560470 32756552 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378461 S 1 0 1 HLA-DQA1,HLA-DQB1,HLA-DRB1,HLA-DRB5,HLA-DRB6 NA18507 nsv511350 6 32561788 32613823 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625788 S 1 0 1 HLA-DRB5 1 dgv104e19 6 32562187 32622070 CNV Loss Ahn et al 2009 19470904 Sequencing esv6983,esv5997 M 1 0 1 HLA-DRB5 SJK esv2422111 6 32562253 32679939 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5041063,essv5147023,essv5003478,essv5111777,essv5142288,essv5069677,essv5069372,essv5016010,essv5045759,essv5052027,essv5117359,essv5099061,essv5062588,essv5045401,essv5144828,essv5070060,essv5062954,essv5037322,essv5068449,essv5021062,essv5120362,essv5071861,essv5123976,essv5144481,essv5137118,essv5041065,essv5054810,essv5074396,essv5066745,essv5154700,essv5040513,essv5117937,essv5126423,essv5077217,essv5085494,essv5106681,essv5021731,essv5076158,essv5049865,essv5143810,essv5121793,essv5045514,essv5038050,essv5128819,essv5070825,essv5074973,essv5023994,essv5093602,essv5124106,essv5067087,essv5017921,essv5004198,essv5014900,essv5094015,essv5127252,essv5111293,essv5122747,essv5059082,essv5146523,essv5144165,essv5092244,essv5141026,essv5024731,essv5132602,essv5160256,essv5018326,essv5142515,essv5022395,essv5051158,essv5062632,essv5025837,essv5035046,essv5071144,essv5010215,essv5041625,essv5075071,essv5086550,essv5076164,essv5091986,essv5017422,essv5031152,essv5078718,essv5047359,essv5087023,essv5048255,essv5023596,essv5055688,essv5015102,essv5097940,essv5048662,essv5071022,essv5015373,essv5121721,essv5073304,essv5033510,essv5112415,essv5121322,essv5108077,essv5055493,essv5053923,essv5043553,essv5016108,essv5086299,essv5158396,essv5129802,essv5111776,essv5095478,essv5104170,essv5071115,essv5089228,essv5145652,essv5072472,essv5072616,essv5152350,essv5079145,essv5028906,essv5103346,essv5107664,essv5076054,essv5017426,essv5032818,essv5018947,essv5069507,essv5130296,essv5150381,essv5129977,essv5153601,essv5011608,essv5064133,essv5160394,essv5064593,essv5061484,essv5045810,essv5139829,essv5156083,essv5132582,essv5085855,essv5106464,essv5065676,essv5106261,essv5143592,essv5092694,essv5116250,essv5125071,essv5079278,essv5102097,essv5120668,essv5134377,essv5093042,essv5063342,essv5145467,essv5055394,essv5142161,essv5063034,essv5009725,essv5003549,essv5136053,essv5025169,essv5129895,essv5090937,essv5153947,essv5119199,essv5155863,essv5121837,essv5133038,essv5047925,essv5120660,essv5069675,essv5146976,essv5160640,essv5075738,essv5092010,essv5068995,essv5062162,essv5157319,essv5079658,essv5022795,essv5050396,essv5036906,essv5150379,essv5120628,essv5099471,essv5002006,essv5006261,essv5079778,essv5138808,essv5118587,essv5095144,essv5117862,essv5023569,essv5158650,essv5004616,essv5064952,essv5094403,essv5010268,essv5107712,essv5128064,essv5064423,essv5003470,essv5038482,essv5022973,essv5049643,essv5087942,essv5153084,essv5062100,essv5151700,essv5159426,essv5046265,essv5036762,essv5101157,essv5024461,essv5013083,essv5158432,essv5120195,essv5019196,essv5159062,essv5039094,essv5005150,essv5047941,essv5080371,essv5127580,essv5158868,essv5014674,essv5067350,essv5129109,essv5140142,essv5020803,essv5116270,essv5125669,essv5032102,essv5124347,essv5029482,essv5121028,essv5094942,essv5105513,essv5032304,essv5098101,essv5159137,essv5096525,essv5038348,essv5159414,essv5047106,essv5118839,essv5064867,essv5084773,essv5010652,essv5023990,essv5050936,essv5008102,essv5015888,essv5123889,essv5121756,essv5051123,essv5148542,essv5043388,essv5086598,essv5080254,essv5021505,essv5034986,essv5016977,essv5139029,essv5026392,essv5124081,essv5121962,essv5150657,essv5132381,essv5053447,essv5038488,essv5015881,essv5011310,essv5047220,essv5082047,essv5145461,essv5083466,essv5064883,essv5091258,essv5101306,essv5116683,essv5037182,essv5023449,essv5097426,essv5085544,essv5126473,essv5041140,essv5132820,essv5075953,essv5069867,essv5106596,essv5158674,essv5147343,essv5080052,essv5151775,essv5138042,essv5126527,essv5010866,essv5152444,essv5003553,essv5077250,essv5142064,essv5120950,essv5155051,essv5027451,essv5118824,essv5138195,essv5159051,essv5077465,essv5051397,essv5088858,essv5146111,essv5068781,essv5111153,essv5111900,essv5111860,essv5051784,essv5066646,essv5077473,essv5151303,essv5009365,essv5006105,essv5086324,essv5116665,essv5003351,essv5076515,essv5096537,essv5120894,essv5093956,essv5029073,essv5068009,essv5139013,essv5089249,essv5097769,essv5021432,essv5117585,essv5116766,essv5095661,essv5038207,essv5109499,essv5066207,essv5117224,essv5068681,essv5060095,essv5103929,essv5038487,essv5072993,essv5087473,essv5037088,essv5036383,essv5070984,essv5073743,essv5065562,essv5009902,essv5119430,essv5063597,essv5080310,essv5135276,essv5048198,essv5099254,essv5096108,essv5029139,essv5142853,essv5009150,essv5002572,essv5085255,essv5023509,essv5110415,essv5087902,essv5072730,essv5050213,essv5074697,essv5148259,essv5094630,essv5081450,essv5152754,essv5149817,essv5035384,essv5069289,essv5127847,essv5160517,essv5108036,essv5051302,essv5119009,essv5014879,essv5084522,essv5080763,essv5042356,essv5120112,essv5058746,essv5100329,essv5144784,essv5056442,essv5130023,essv5006940,essv5066365,essv5079484,essv5068027,essv5129597,essv5065652,essv5054013,essv5015997,essv5117195,essv5010749,essv5069965,essv5129227,essv5151971,essv5136044,essv5071069,essv5096365,essv5011611,essv5043281,essv5103619,essv5094791,essv5115784,essv5148447,essv5033378,essv5134712,essv5131932,essv5014435,essv5117463,essv5133875,essv5077036,essv5100508,essv5141536,essv5149393,essv5125104,essv5125765,essv5045434,essv5159150,essv5007036,essv5106103,essv5160197,essv5118727,essv5059885,essv5153958,essv5093993,essv5137456,essv5079792,essv5105475,essv5115326,essv5011349,essv5139181,essv5100739,essv5071354,essv5133931,essv5136763,essv5058670,essv5113017,essv5149920,essv5042490,essv5092601,essv5125470,essv5068797,essv5001924,essv5014680,essv5087878,essv5089156,essv5122686,essv5056383,essv5019461,essv5054347,essv5128901,essv5062568,essv5019416,essv5038690,essv5049741,essv5147254,essv5154219,essv5094210,essv5095859,essv5084776,essv5113087,essv5124051,essv5067528,essv5021018,essv5103117,essv5119814,essv5097849,essv5083193,essv5133288,essv5009398,essv5013491,essv5005915,essv5023185,essv5026056,essv5155793,essv5035222,essv5129772,essv5037998,essv5130534,essv5092748,essv5073032,essv5096986,essv5078138,essv5046214,essv5142179,essv5090385,essv5071448,essv5123383,essv5008442,essv5140545,essv5067211,essv5156512,essv5130473,essv5148358,essv5157592,essv5146625,essv5036517,essv5039013,essv5104560,essv5118378,essv5102239,essv5002762,essv5079401,essv5074831,essv5088588,essv5050909,essv5101508,essv5014724,essv5116467,essv5158811,essv5145051,essv5043968,essv5134071,essv5016342,essv5148171,essv5088540,essv5002070,essv5107348,essv5085760,essv5006305,essv5021853,essv5141796,essv5053111,essv5065483,essv5027283,essv5104608,essv5103506,essv5145560,essv5047708,essv5051077,essv5122156,essv5077207,essv5065211,essv5012247,essv5056316,essv5128272,essv5028789,essv5006020,essv5137015,essv5157255,essv5051526,essv5133657,essv5150597,essv5092213,essv5074607,essv5107597,essv5062768,essv5065364,essv5142527,essv5008075,essv5033902,essv5070540,essv5157597,essv5067412,essv5040414,essv5069256,essv5129738,essv5118829,essv5052877,essv5090767,essv5087560,essv5077816,essv5100172,essv5057362,essv5075252,essv5037847,essv5141597,essv5145449,essv5158191,essv5148182,essv5020340,essv5022546,essv5076995,essv5065078,essv5142877,essv5138062,essv5053435,essv5121020,essv5017088,essv5006920,essv5068410,essv5016438,essv5053749,essv5122477,essv5127512,essv5128834,essv5148970,essv5151908,essv5025581,essv5151931,essv5149076,essv5123859,essv5131630,essv5009259,essv5130154,essv5146267,essv5079064,essv5096488,essv5156809,essv5105561,essv5042751,essv5037413,essv5004586,essv5132376,essv5084842,essv5103889,essv5074209,essv5008829,essv5151492,essv5109626,essv5087991,essv5083738,essv5088170,essv5005816,essv5136421,essv5139107,essv5132320,essv5097773,essv5053112,essv5159191,essv5067206,essv5012940,essv5123106,essv5026904,essv5151323,essv5057503,essv5005238,essv5095763,essv5019085,essv5002446,essv5130387,essv5129617,essv5100037,essv5130475,essv5108091,essv5047134,essv5069941,essv5062685,essv5053817,essv5043627,essv5009771,essv5117207,essv5020234,essv5114030,essv5083667,essv5023810,essv5138699,essv5014046,essv5027685,essv5118488,essv5122525,essv5083023,essv5007749,essv5029716,essv5122706,essv5043496,essv5020391,essv5028164,essv5081351,essv5033728,essv5001939,essv5061930,essv5030420,essv5017369,essv5064016,essv5112236,essv5049262,essv5073273,essv5052918,essv5016057,essv5020766,essv5115075,essv5060690,essv5066229,essv5117345,essv5058540,essv5078973,essv5019303,essv5041521,essv5004764,essv5152484,essv5014475,essv5161149,essv5102466,essv5061724,essv5027904,essv5093210,essv5116409,essv5065810,essv5124489,essv5007002,essv5124450,essv5082572,essv5026160,essv5116359,essv5109829,essv5015961,essv5076446,essv5071790,essv5144494,essv5038026,essv5088844,essv5035669,essv5036412,essv5039505,essv5089043,essv5030626,essv5157643,essv5076988,essv5112729,essv5085899,essv5117900,essv5129799,essv5036998,essv5117719,essv5025275,essv5088764,essv5117038,essv5022298,essv5005602,essv5010786,essv5027680,essv5054173,essv5132671,essv5035656,essv5013008,essv5079367,essv5147005,essv5047829,essv5141239,essv5134583,essv5052354,essv5085611,essv5059822,essv5075361,essv5117316,essv5013444,essv5030058,essv5139811,essv5073766,essv5104169,essv5059122,essv5036826,essv5044351,essv5118994,essv5140626,essv5082023,essv5075904,essv5074666,essv5141080,essv5063725,essv5045405,essv5129660,essv5110894,essv5146260,essv5144294,essv5085732,essv5089207,essv5068967,essv5073657,essv5041806,essv5111118,essv5118252,essv5064254,essv5101217,essv5038888,essv5086186,essv5020274,essv5033121,essv5101596,essv5015065,essv5150076,essv5036615,essv5157627,essv5123463,essv5142015,essv5100641,essv5150819,essv5067447,essv5083815,essv5098281,essv5151750,essv5092749,essv5104925,essv5124923,essv5038605,essv5003426,essv5137510,essv5044334,essv5055895,essv5103381,essv5107184,essv5076898,essv5021591,essv5004306,essv5115558,essv5107041,essv5014098,essv5111782,essv5136921,essv5078491,essv5159978,essv5108426,essv5118481,essv5076626,essv5090532,essv5068704,essv5097975,essv5038790,essv5124445,essv5002927,essv5117857,essv5154631,essv5077757,essv5126232,essv5005971,essv5097839,essv5116986,essv5103239,essv5152723,essv5027367,essv5058171,essv5135873,essv5057640,essv5003109,essv5144636,essv5146468,essv5045887,essv5106408,essv5054864,essv5071065,essv5040099,essv5119698,essv5097511,essv5147583,essv5048708,essv5107524,essv5129819,essv5101449,essv5056054,essv5080729,essv5054833,essv5041070,essv5081056,essv5007873,essv5056917,essv5143588,essv5052601,essv5063763,essv5139779,essv5078657,essv5028937,essv5107472,essv5114211,essv5017665,essv5055274,essv5141276,essv5050556,essv5031679,essv5107275,essv5084541,essv5033229,essv5027738,essv5052743,essv5116868,essv5129284,essv5100476,essv5002593,essv5088795,essv5150977,essv5152454,essv5115651,essv5081398,essv5121198,essv5027272,essv5011538,essv5071059,essv5006032,essv5108993,essv5041328,essv5006604,essv5157121,essv5125011,essv5083090,essv5070234,essv5012737,essv5078752,essv5122760,essv5086266,essv5084078,essv5007154,essv5142173,essv5141747,essv5100684,essv5122266,essv5082002,essv5063878,essv5061693,essv5042564,essv5086936,essv5130234,essv5110977,essv5069352,essv5153592,essv5138742,essv5058940,essv5149756,essv5023972,essv5151284,essv5098792,essv5128331,essv5133572,essv5027636,essv5092174,essv5160052,essv5106263,essv5083449,essv5125069,essv5066441,essv5006971,essv5004388,essv5075974,essv5070905,essv5099503,essv5113048,essv5028710,essv5067581,essv5115136,essv5108459,essv5112646,essv5122075,essv5083637,essv5158422,essv5097890,essv5043919,essv5020319,essv5073393,essv5095475,essv5040637,essv5042738,essv5135000,essv5085873,essv5158908,essv5130946,essv5118320,essv5043506,essv5118665,essv5140484,essv5100905,essv5014282,essv5081699,essv5126125,essv5079491,essv5035580,essv5151465,essv5076812,essv5075865,essv5133068,essv5086696,essv5120762,essv5139215,essv5046671,essv5156473,essv5110061,essv5086193,essv5154291,essv5006722,essv5148154,essv5117021,essv5126946,essv5019199,essv5026603,essv5142209,essv5108763,essv5077752,essv5031380,essv5141139,essv5143822,essv5060105,essv5007268,essv5152471,essv5060865,essv5072898,essv5024316,essv5146077,essv5086632,essv5156909,essv5086369,essv5092435,essv5041716,essv5057756,essv5057646,essv5140111,essv5093499,essv5117658,essv5149539,essv5137075,essv5090165,essv5159544,essv5061108,essv5036648,essv5138436,essv5078151,essv5026986,essv5094934,essv5102617,essv5127641,essv5100733,essv5007645,essv5132192,essv5003861,essv5027745,essv5034113,essv5019190,essv5104071,essv5131246,essv5145507,essv5110029,essv5150350,essv5072954,essv5140997,essv5051915,essv5035922,essv5128252,essv5113276,essv5057211,essv5043099,essv5046301,essv5064915,essv5028977,essv5056437,essv5138518,essv5090287,essv5010166,essv5122739,essv5068109,essv5155188,essv5007564,essv5080099,essv5035444,essv5018053,essv5022366,essv5010254,essv5061910,essv5031820,essv5049189,essv5092353,essv5050826,essv5129310,essv5011334,essv5060845,essv5018991,essv5047082,essv5047914,essv5104438,essv5115563,essv5086893,essv5090033,essv5010304,essv5055900,essv5110057,essv5108964,essv5080521,essv5056513,essv5095131,essv5075373,essv5111566,essv5116297,essv5071438,essv5047768,essv5158642,essv5156423,essv5088533,essv5043262,essv5007746,essv5047507,essv5027491,essv5053104,essv5138728,essv5121258,essv5080403,essv5141273,essv5130012,essv5008859,essv5011240,essv5160612,essv5011549,essv5111243,essv5128702,essv5054152,essv5015886,essv5038902,essv5091940,essv5034766,essv5144136,essv5009723,essv5109372,essv5038877,essv5108463,essv5054001,essv5058775,essv5050705,essv5081878,essv5059462,essv5083757,essv5157639,essv5035931,essv5125904,essv5056713,essv5074499,essv5078250,essv5117242,essv5071044,essv5112294,essv5151874,essv5110770,essv5026126,essv5143063,essv5009144,essv5092534,essv5072591,essv5128402,essv5123108,essv5052804,essv5073846,essv5045045,essv5013383,essv5149230,essv5108907,essv5026073,essv5007765,essv5087401,essv5116013,essv5017828,essv5086894,essv5135570,essv5024999,essv5093183,essv5014647 M 1184 0 1148 HLA-DRB1,HLA-DRB5,HLA-DRB6 NA06984,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11882,NA11891,NA11892,NA11893,NA11894,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18953,NA18955,NA18956,NA18957,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21101,NA21102,NA21103,NA21104,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv435827 6 32562512 32642412 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466270 S 2 0 1 HLA-DRB5,HLA-DRB6 NA15510 nsv823521 6 32563017 32565585 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436655 S 31 0 1 "" NA18542 dgv1015n67 6 32563017 32567703 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823532,nsv823522 M 31 0 3 "" NA18564,NA18566,NA18570 dgv1016n67 6 32563017 32588104 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823523,nsv823533,nsv823534,nsv823530,nsv823524 M 31 0 8 "" AK12,AK14,AK18,NA18526,NA18547,NA18552,NA18942,NA18951 nsv514350 6 32563216 32601108 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627799 S 1414 0 1 HLA-DRB5 dgv6672n71 6 32563460 32593470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884863,nsv884871 M 6533 11 0 HLA-DRB5 IS30829,IS32800,IS35471,IS35487,IS37775,IS37853,IS38047,IS39310,SP51140,SP52716,SP56959 dgv1017n67 6 32563715 32565022 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823535,nsv823536 M 31 0 2 "" NA18968,NA18969 nsv820127 6 32564754 32605230 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418732 S 2 1 0 HLA-DRB5 AK1 nsv433380 6 32565228 32584593 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463261 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 dgv6673n71 6 32565228 32586132 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884876,nsv884869,nsv884878 M 6533 14 0 "" IS40702,MS24719,SP50543,SP50580,SP50592,SP51218,SP51250,SP51259,SP51280,SP52614,SP55269,SP57445,SP81160,SP81213 dgv6674n71 6 32565228 32608853 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884886,nsv884875,nsv884885,nsv884884,nsv884904,nsv884894,nsv884920,nsv884895 M 6533 10 0 HLA-DRB5 IS32805,IS35141,IS35379,IS35436,IS36064,IS38183,IS38471,IS41193,SP52297,SP52537 esv2144991 6 32567788 32568844 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931908 S 1 0 1 "" NA18507 dgv6675n71 6 32567928 32600286 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884916,nsv884882,nsv884881,nsv884880,nsv884891,nsv884883,nsv884890,nsv884903,nsv884902,nsv884908,nsv884918,nsv884907,nsv884917,nsv884911,nsv884912,nsv884915,nsv884919,nsv884877,nsv884892 M 6533 59 0 HLA-DRB5 IS32329,IS33332,IS33487,IS34582,IS34649,IS35169,IS35963,IS36269,IS36438,IS37068,IS37605,IS37861,IS39996,IS40105,IS40785,IS41424,IS41949,MS18267,SP50035,SP50179,SP50623,SP50660,SP50783,SP51165,SP51254,SP51460,SP52256,SP52359,SP52428,SP52493,SP53572,SP53937,SP53988,SP54225,SP54489,SP54526,SP54693,SP55061,SP55092,SP55125,SP55369,SP55424,SP55436,SP55509,SP55915,SP56107,SP56330,SP56505,SP56803,SP57654,SP57736,SP58206,SP58387,SP58443,SP80986,SP81024,SP81083,SP81367,SP81538 dgv6676n71 6 32569686 32597079 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884879,nsv884889,nsv884910,nsv884914 M 6533 19 20 HLA-DRB5 IS30725,IS31142,IS31849,IS38112,IS39656,IS41938,IS41940,MS10658,MS17335,MS17529,MS18886,MS21195,MS21738,SP50925,SP51031,SP51242,SP51356,SP51440,SP52035,SP52390,SP53242,SP53473,SP53821,SP54268,SP54803,SP55165,SP55179,SP55212,SP55223,SP55683,SP55882,SP55952,SP56119,SP56890,SP57009,SP57577,SP57970,SP80968,SP81471 dgv6677n71 6 32569686 32625376 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884887,nsv884896,nsv884909,nsv884921,nsv884923,nsv884922 M 6533 6 0 HLA-DRB5 IS35646,IS35676,IS37342,IS39116,MS19246,MS24162 dgv6678n71 6 32571967 32593470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884888,nsv884901,nsv884906,nsv884905 M 6533 7 0 HLA-DRB5 IS40248,IS40558,MS20170,MS22970,SP54127,SP55401,SP56144 nsv884893 6 32571967 32601256 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529014,nssv1594843,nssv1527200 M 6533 1 2 HLA-DRB5 IS40039,SP58240,SP81422 dgv6679n71 6 32574040 32593470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884897,nsv884898 M 6533 0 13 HLA-DRB5 IS35770,MS14566,MS15630,MS17453,MS24350,MS26145,SP51069,SP53440,SP54190,SP54846,SP54994,SP55007,SP81182 dgv6680n71 6 32574040 32601256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884899,nsv884900 M 6533 0 3 HLA-DRB5 IS30148,SP52685,SP53531 nsv884913 6 32574202 32624385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579988 S 6533 0 1 HLA-DRB5 IS35205 esv1213145 6 32579256 32579534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127971 S 2 0 1 "" HuRef dgv6681n71 6 32580371 32598637 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884924,nsv884927,nsv884926,nsv884925 M 6533 10 0 HLA-DRB5 IS30070,IS32312,IS34340,IS35146,IS38009,IS38627,IS38634,MS11191,SP51293,SP57728 esv5576 6 32580868 32619580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28017 S 1 0 1 HLA-DRB5 SJK dgv6682n71 6 32581141 32606390 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884930,nsv884928,nsv884929 M 6533 0 5 HLA-DRB5 IS30406,MS16932,SP53262,SP56400,SP81060 dgv6e3 6 32585032 32657166 CNV Complex Wang et al 2008 18987735 Sequencing esv5159,esv3784 M 1 0 0 HLA-DRB1,HLA-DRB5,HLA-DRB6 YH dgv1018n67 6 32585931 32702291 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823540,nsv823537 M 31 0 2 HLA-DRB1,HLA-DRB5,HLA-DRB6 NA18592,NA18969 esv29958 6 32586131 32629907 CNV Gain Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84197 S 3 1 0 HLA-DRB5,HLA-DRB6 WATSON nsv884931 6 32586153 32609122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541341 S 6533 1 0 HLA-DRB5 MS15269 esv1689241 6 32586215 32586365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916660 S 2 0 1 "" HuRef nsv823539 6 32587283 32587988 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435892 S 31 0 1 "" NA18566 dgv105e19 6 32587628 32665445 CNV Loss Ahn et al 2009 19470904 Sequencing esv5449,esv6937,esv6721,esv9703,esv8095,esv6982 M 1 0 1 HLA-DRB1,HLA-DRB5,HLA-DRB6 SJK nsv823541 6 32587989 32593205 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432894 S 31 0 1 HLA-DRB5 NA18972 esv271274 6 32589131 32589619 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501706,essv2496502,essv2507896 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA18510,NA18564 dgv6683n71 6 32589485 32601768 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884933,nsv884932,nsv884945 M 6533 3 0 HLA-DRB5 SP50077,SP50796,SP54652 dgv6684n71 6 32589485 32609122 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884934,nsv884936,nsv884935,nsv884974,nsv884940 M 6533 0 28 HLA-DRB5 IS31098,IS31915,IS35142,IS35770,IS36364,IS37043,IS37990,IS38380,IS38549,IS39407,IS39625,IS39999,IS40063,IS40581,IS40707,IS41672,MS10330,MS13916,MS19571,MS21036,SP50827,SP50979,SP51108,SP52298,SP54661,SP57600,SP57986,SP81120 dgv6685n71 6 32589485 32611466 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884955,nsv884937,nsv884939,nsv884954 M 6533 38 13 HLA-DRB5 IS30143,IS30178,IS30580,IS30668,IS31166,IS32395,IS33632,IS34083,IS34807,IS34908,IS36245,IS36337,IS36450,IS36581,IS38110,IS38293,IS38378,IS38603,IS40072,IS40227,IS40245,IS40297,IS40299,IS40898,IS41739,IS41955,MS10548,MS11032,MS11307,MS12564,MS12986,MS15453,MS15926,MS16042,MS16398,MS17697,MS18540,MS18896,MS21236,MS24783,MS25244,MS26119,SP51111,SP52376,SP53838,SP54119,SP55348,SP58389,SP81416,SP81461,SP81467 dgv6686n71 6 32589485 32611857 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884976,nsv884938,nsv884956,nsv884953,nsv884973,nsv884975 M 6533 15 0 HLA-DRB5 IS33552,IS36103,IS36854,IS37337,IS38515,IS40137,IS41881,MS10378,MS15907,MS17359,MS17730,MS19135,MS19930,MS22440,SP54853 dgv6687n71 6 32589485 32619546 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884944,nsv884959,nsv884941,nsv884958,nsv884957,nsv884960 M 6533 15 0 HLA-DRB5 IS30201,IS30537,IS33868,IS34429,IS37993,IS38031,IS40157,IS41807,IS41927,IS41966,MS15525,MS21194,MS22653,SP54935,SP58325 dgv6688n71 6 32589485 32666924 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884969,nsv884971,nsv884967,nsv884942,nsv884968,nsv884977,nsv884970 M 6533 9 0 HLA-DRB1,HLA-DRB5,HLA-DRB6 IS30388,IS30409,IS35190,IS36640,IS38430,IS39243,MS19808,SP57659,SP58409 dgv6689n71 6 32589485 32679939 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884943,nsv885175 M 6533 0 2 HLA-DRB1,HLA-DRB5,HLA-DRB6 IS34599,IS38254 dgv106e19 6 32589594 32635003 CNV Loss Ahn et al 2009 19470904 Sequencing esv5951,esv9132,esv7689,esv9242 M 1 0 1 HLA-DRB5,HLA-DRB6 SJK nsv823543 6 32590368 32593205 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441092,nssv1439700 M 31 0 2 HLA-DRB5 NA18537,NA18969 dgv6690n71 6 32592346 32606992 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884951,nsv884980,nsv884979,nsv884978,nsv884947,nsv884950,nsv884949,nsv884948,nsv884952,nsv884946 M 6533 189 0 HLA-DRB5 IS30348,IS30645,IS30826,IS30967,IS31282,IS31390,IS31543,IS31581,IS31587,IS31712,IS31747,IS31904,IS32744,IS32944,IS33507,IS33526,IS33665,IS33702,IS33768,IS33811,IS34523,IS34543,IS34627,IS34648,IS34811,IS35162,IS35287,IS35378,IS35388,IS35447,IS35633,IS35726,IS35742,IS35743,IS36219,IS36298,IS36424,IS37059,IS37139,IS37577,IS37712,IS37996,IS38138,IS38270,IS38315,IS38459,IS38477,IS38616,IS38652,IS38863,IS38959,IS39388,IS39453,IS39759,IS39958,IS40149,IS40368,IS41724,IS41973,MS10121,MS10123,MS10756,MS10769,MS10777,MS12076,MS13400,MS13498,MS13502,MS14396,MS14450,MS14495,MS14512,MS14953,MS15307,MS15539,MS16032,MS16158,MS16334,MS16531,MS16832,MS16917,MS17224,MS17537,MS17819,MS18407,MS18779,MS19437,MS19630,MS19852,MS19923,MS20857,MS20967,MS21100,MS21252,MS21308,MS21857,MS22166,MS22273,MS22448,MS23123,MS24020,MS24073,MS24183,MS24563,MS25028,MS25112,MS25216,MS25440,MS26001,SP50085,SP50615,SP50624,SP50850,SP50936,SP51035,SP51105,SP51112,SP51146,SP51231,SP52017,SP52051,SP52060,SP52130,SP52253,SP52263,SP52270,SP52377,SP52427,SP52621,SP52626,SP52729,SP52740,SP52858,SP53320,SP53392,SP53448,SP53759,SP53933,SP54042,SP54083,SP54118,SP54517,SP54782,SP54808,SP54859,SP54884,SP55027,SP55034,SP55039,SP55134,SP55318,SP55345,SP55362,SP55508,SP55567,SP55650,SP55662,SP55699,SP55834,SP55843,SP55966,SP55992,SP56012,SP56084,SP56108,SP56126,SP56531,SP56614,SP56833,SP56914,SP57078,SP57208,SP57329,SP57355,SP57410,SP57536,SP57575,SP57640,SP58141,SP58537,SP80938,SP81015,SP81059,SP81348,SP81355,SP81417,SP81513,SP81553,SP81562 nsv884962 6 32592346 32626983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586505,nssv1528775 M 6533 2 0 HLA-DRB5 IS37841,SP81359 nsv884963 6 32592346 32629229 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526533,nssv1588065,nssv1582585,nssv1586322,nssv1536381,nssv1588608,nssv1589720,nssv1591149,nssv1578918,nssv1590404,nssv1526660,nssv1572034,nssv1597622,nssv1580577,nssv1545803,nssv1591852 M 6533 15 1 HLA-DRB5,HLA-DRB6 IS32843,IS34964,IS35380,IS36022,IS37738,IS38151,IS38220,IS38402,IS38505,IS38645,IS39061,IS40874,MS12743,MS16949,SP57634,SP57700 dgv6691n71 6 32592346 32630503 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884990,nsv884986,nsv884964,nsv884961 M 6533 0 5 HLA-DRB5,HLA-DRB6 IS30331,IS34610,MS20612,SP50767,SP57418 dgv6692n71 6 32592346 32647375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884965,nsv884966,nsv884999 M 6533 0 3 HLA-DRB5,HLA-DRB6 MS11694,SP50061,SP81363 nsv884972 6 32593470 32606992 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576630,nssv1540024,nssv1525644 M 6533 2 1 HLA-DRB5 IS34185,MS14658,SP56750 nsv823544 6 32593736 32597955 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435893 S 31 0 1 HLA-DRB5 NA18566 nsv823545 6 32593736 32628012 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433679,nssv1429092 M 31 0 2 HLA-DRB5 AK12,NA18526 dgv6693n71 6 32595288 32606390 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884981,nsv884987,nsv884982,nsv884989,nsv884988 M 6533 13 0 HLA-DRB5 SP50120,SP50530,SP50631,SP51144,SP51481,SP52708,SP54516,SP54725,SP56004,SP56971,SP57376,SP57779,SP58215 nsv823546 6 32596430 32597142 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426780 S 31 1 0 HLA-DRB5 NA18947 nsv823547 6 32596430 32605108 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432895 S 31 0 1 HLA-DRB5 NA18972 dgv6694n71 6 32597079 32606019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv884984,nsv884983 M 6533 0 2 HLA-DRB5 SP56947,SP81009 dgv6695n71 6 32597079 32609122 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv884995,nsv884985,nsv884992 M 6533 5 0 HLA-DRB5 MS11765,MS14290,MS24584,MS25792,SP54275 dgv1019n67 6 32597623 32598412 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823548,nsv823549 M 31 0 3 HLA-DRB5 AK14,NA18997,NA18999 nsv884991 6 32597869 32647375 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513051 S 6533 1 0 HLA-DRB5,HLA-DRB6 SP55671 esv1346503 6 32599574 32599574 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933249 S 2 1 0 HLA-DRB5 HuRef nsv884993 6 32600286 32606812 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516191 S 6533 1 0 HLA-DRB5 SP56518 dgv6696n71 6 32600286 32610165 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv884994,nsv884996 M 6533 4 5 HLA-DRB5 IS38448,IS40067,MS10968,MS11823,MS13538,MS18195,MS22268,SP55747,SP56766 nsv884997 6 32600286 32611466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549203 S 6533 0 1 HLA-DRB5 MS18130 dgv6697n71 6 32600286 32641450 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885008,nsv884998,nsv885007,nsv885009 M 6533 8 0 HLA-DRB5,HLA-DRB6 IS39783,IS40646,IS40890,IS41041,MS12577,MS13336,MS15050,MS16137 dgv6698n71 6 32600286 32668837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885097,nsv885169,nsv885072,nsv885000,nsv885001,nsv885002,nsv885046,nsv885069,nsv885098,nsv885099,nsv885045,nsv885172,nsv885071,nsv885170,nsv885167,nsv885166,nsv885168,nsv885078,nsv885070 M 6533 0 29 HLA-DRB1,HLA-DRB5,HLA-DRB6 IS31373,IS32666,IS32888,IS32892,IS32894,IS33493,IS37043,IS37684,IS38202,IS38281,IS38542,MS15804,MS16117,MS17278,SP50126,SP52131,SP52137,SP52299,SP53407,SP53412,SP53670,SP54389,SP54405,SP54409,SP54434,SP56119,SP56903,SP56912,SP56991 dgv1020n67 6 32600343 32605108 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823552,nsv823550 M 31 3 2 HLA-DRB5 NA18526,NA18582,NA18942,NA18968,NA18969 dgv1021n67 6 32600343 32605200 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823555,nsv823551 M 31 4 0 HLA-DRB5 NA18537,NA18592,NA18947,NA18972 esv1007815 6 32600697 32605108 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586872 S 3 0 1 HLA-DRB5 HuRef nsv823554 6 32600697 32605200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425012 S 31 0 1 HLA-DRB5 AK2 dgv1022n67 6 32601024 32628505 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823556,nsv823558,nsv823559,nsv823560 M 31 0 6 HLA-DRB5,HLA-DRB6 NA18542,NA18566,NA18592,NA18951,NA18968,NA18969 nsv885003 6 32601789 32609122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517109,nssv1517267 M 6533 0 2 HLA-DRB5 SP57190,SP57238 dgv6699n71 6 32601789 32622122 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885082,nsv885004,nsv885016,nsv885030,nsv885012,nsv885015,nsv885029,nsv885053,nsv885028,nsv885050,nsv885083 M 6533 59 0 HLA-DRB5 IS30270,IS31098,IS33218,IS34526,IS35146,IS37458,IS37861,IS38603,IS39999,IS40039,IS40223,IS40643,MS10330,MS12555,MS13160,MS13751,MS13916,MS14289,MS14339,MS14500,MS14513,MS15972,MS16055,MS16707,MS17489,MS17508,MS17609,MS19345,MS19556,MS19571,MS21626,MS22999,MS25553,MS26140,SP50827,SP51108,SP51165,SP51353,SP51403,SP52298,SP53425,SP54750,SP54816,SP55677,SP55829,SP56107,SP56400,SP56505,SP56676,SP56947,SP57147,SP57600,SP57717,SP57886,SP58310,SP80975,SP81009,SP81120,SP81213 nsv885005 6 32601789 32626983 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557181,nssv1501242 M 6533 1 1 HLA-DRB5 MS22454,SP51057 dgv6700n71 6 32601789 32632659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885035,nsv885006,nsv885058,nsv885034,nsv885037,nsv885057,nsv885056,nsv885059,nsv885060,nsv885077,nsv885075,nsv885087,nsv885088,nsv885092,nsv885090,nsv885091,nsv885093,nsv885104,nsv885106,nsv885105,nsv885115,nsv885116,nsv885089,nsv885101,nsv885036,nsv885102,nsv885076 M 6533 0 85 HLA-DRB5,HLA-DRB6 IS30317,IS30504,IS31041,IS32015,IS33475,IS33689,IS33800,IS34185,IS34304,IS34622,IS35027,IS35717,IS35800,IS36117,IS38469,IS38549,IS39250,IS40205,IS40834,IS40928,IS41128,IS41648,MS14658,MS15485,MS15727,MS16209,MS16259,MS18003,MS18123,MS18375,MS20872,MS21036,MS21275,MS23725,MS24935,MS24971,SP50059,SP50134,SP50652,SP50679,SP50880,SP51040,SP51089,SP51226,SP51413,SP51457,SP51493,SP52378,SP52454,SP53493,SP53876,SP54043,SP54214,SP54225,SP54295,SP54407,SP54552,SP54645,SP54672,SP54803,SP55021,SP55219,SP55470,SP55553,SP55610,SP55642,SP55763,SP55797,SP56002,SP56138,SP56172,SP56710,SP56750,SP57181,SP57190,SP57238,SP57266,SP57328,SP57368,SP57489,SP57986,SP80917,SP81117,SP81389,SP81504 dgv6701n71 6 32604788 32617335 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885049,nsv885010,nsv885014,nsv885026,nsv885025,nsv885024,nsv885051,nsv885013 M 6533 21 0 HLA-DRB5 IS37159,IS38380,IS41672,MS10352,MS11257,MS14101,MS15060,MS16011,MS16537,MS23160,MS24738,MS25690,MS26121,SP51460,SP52716,SP54393,SP54680,SP55024,SP55131,SP56707,SP57445 dgv6702n71 6 32604788 32619546 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885027,nsv885052,nsv885011 M 6533 0 3 HLA-DRB5 IS37848,IS40368,MS12640 dgv6703n71 6 32604859 32626983 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885086,nsv885017,nsv885032,nsv885033 M 6533 6 0 HLA-DRB5 IS35475,IS40581,SP53937,SP55179,SP81538,SP81578 dgv6704n71 6 32604859 32635771 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885018,nsv885062,nsv885038,nsv885039,nsv885061,nsv885094,nsv885117,nsv885139,nsv885155,nsv885020,nsv885019 M 6533 20 0 HLA-DRB5,HLA-DRB6 IS30336,IS34397,IS34443,IS34473,IS35142,IS37573,IS38627,IS38648,IS40063,IS40473,IS40907,IS41647,IS41737,MS11064,MS16494,MS21721,MS21780,MS21841,MS21866,SP54833 dgv6705n71 6 32604890 32611466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885021,nsv885022,nsv885047 M 6533 0 28 HLA-DRB5 SP50025,SP50120,SP50850,SP50927,SP51051,SP52053,SP54373,SP54399,SP54401,SP54468,SP54544,SP54636,SP54734,SP55586,SP55650,SP55655,SP56004,SP56084,SP56096,SP56126,SP56132,SP56224,SP56846,SP57193,SP57254,SP57336,SP57443,SP57941 nsv885023 6 32604890 32615216 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556202,nssv1539645,nssv1582536,nssv1601017,nssv1544817,nssv1548155,nssv1554913,nssv1558702,nssv1538143,nssv1545880,nssv1552753,nssv1540617,nssv1558369,nssv1532306,nssv1547759,nssv1537864 M 6533 6 10 HLA-DRB5 IS35993,IS41964,MS10756,MS13400,MS13491,MS14416,MS14938,MS16531,MS17017,MS17536,MS17706,MS19630,MS21100,MS21863,MS23257,MS23495 dgv6706n71 6 32604890 32625376 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885073,nsv885031,nsv885055,nsv885074,nsv885085 M 6533 0 6 HLA-DRB5 SP50530,SP51079,SP53399,SP56863,SP57669,SP80913 dgv6707n71 6 32604890 32639223 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885041,nsv885040 M 6533 14 3 HLA-DRB5,HLA-DRB6 IS37338,IS38081,IS38285,IS39832,IS41105,MS11078,MS11791,MS14837,MS15030,MS18261,MS18422,MS20588,MS22998,MS25805,SP52708,SP54345,SP54885 dgv6708n71 6 32604890 32643859 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885118,nsv885143,nsv885121,nsv885140,nsv885066,nsv885188,nsv885160,nsv885043,nsv885156,nsv885120,nsv885119,nsv885122,nsv885131,nsv885142,nsv885141,nsv885159,nsv885158,nsv885096,nsv885064 M 6533 103 0 HLA-DRB5,HLA-DRB6 IS30067,IS30129,IS30160,IS30226,IS30351,IS30953,IS31063,IS31144,IS33073,IS33959,IS34491,IS34515,IS34775,IS34909,IS35014,IS35219,IS35245,IS35319,IS35428,IS35495,IS35768,IS36262,IS36396,IS36517,IS37704,IS38087,IS38145,IS38193,IS38226,IS38374,IS38611,IS38754,IS39426,IS39721,IS39817,IS40055,IS40342,IS40511,IS40635,IS40744,IS40840,IS41025,IS41034,MS10241,MS10350,MS10443,MS10871,MS10968,MS11087,MS11494,MS11525,MS11622,MS12092,MS12509,MS12722,MS13019,MS13469,MS13538,MS14164,MS14336,MS14728,MS14947,MS15277,MS15601,MS15768,MS15788,MS15916,MS15926,MS16078,MS16122,MS16315,MS16393,MS16415,MS16621,MS16746,MS16809,MS17580,MS17703,MS17974,MS18672,MS18917,MS19143,MS19917,MS20152,MS21390,MS22393,MS22494,MS24077,MS24274,MS24508,MS25338,MS25700,SP50708,SP52197,SP53602,SP53883,SP54891,SP54967,SP55209,SP55352,SP55537,SP55637,SP58505 dgv6709n71 6 32604890 32647375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885042,nsv885063,nsv885068,nsv885067,nsv885095,nsv885065 M 6533 0 9 HLA-DRB5,HLA-DRB6 IS30467,IS38263,IS40475,IS40828,MS21517,SP54230,SP80961,SP81146,SP81459 dgv6710n71 6 32604890 32653794 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885164,nsv885044,nsv885123,nsv885132,nsv885221,nsv885163 M 6533 11 0 HLA-DRB5,HLA-DRB6 IS37743,IS40728,IS41739,MS12545,MS17779,MS24837,MS25519,MS26061,SP51112,SP55056,SP81088 esv2421657 6 32605094 32679939 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051042,essv5121169,essv5111795,essv5110831,essv5019733,essv5091068,essv5154531,essv5059606,essv5134113,essv5005808,essv5139623,essv5026662,essv5141067,essv5029901,essv5120700,essv5082365,essv5132624,essv5087103,essv5136727,essv5077224,essv5159410,essv5063326,essv5010377,essv5125160,essv5010646,essv5082671,essv5126941,essv5048874,essv5057231,essv5052479,essv5097427,essv5127885,essv5041173,essv5005301,essv5139529,essv5029873,essv5006617,essv5081956,essv5103914,essv5161106,essv5086049,essv5159422,essv5151192,essv5093156,essv5059077,essv5129028,essv5121668,essv5019156,essv5125898,essv5147160,essv5020893,essv5126215,essv5002976,essv5011053,essv5081583,essv5031210,essv5046515,essv5149008,essv5107788,essv5113603,essv5070472,essv5053100,essv5086548,essv5153773,essv5039790,essv5089751,essv5108597,essv5030822,essv5051613,essv5068078,essv5069802,essv5092246,essv5114029,essv5089285,essv5142358,essv5030016,essv5160874,essv5067613,essv5125387,essv5110271,essv5033664,essv5141870,essv5008414,essv5074181,essv5125786,essv5015812,essv5021338,essv5048071,essv5128338,essv5108967,essv5025537,essv5093264,essv5145573,essv5016914,essv5080765,essv5151249,essv5152524,essv5148027,essv5153308,essv5009580,essv5093767,essv5103162,essv5022917,essv5043806,essv5068710,essv5116370,essv5134272,essv5001944,essv5031276,essv5078715,essv5084807,essv5055940,essv5127207,essv5114975,essv5100978,essv5106641,essv5141557,essv5103659,essv5118448,essv5038251,essv5100812,essv5075522,essv5055994,essv5043193,essv5147928,essv5106513,essv5072787,essv5113954,essv5037157,essv5127264,essv5100579,essv5159305,essv5135434,essv5054752,essv5033482,essv5128387,essv5082681,essv5113186,essv5014861,essv5026243,essv5094107,essv5057112,essv5148455,essv5042530,essv5136571,essv5155320,essv5111581,essv5063742,essv5101223,essv5155136,essv5035606,essv5007841,essv5022680,essv5048619,essv5117635,essv5121911,essv5154884,essv5129332,essv5018900,essv5141485,essv5104011,essv5104150,essv5028931,essv5123019,essv5069964,essv5054188,essv5159766,essv5160362,essv5017753,essv5080615,essv5150132,essv5005009,essv5150304,essv5051355,essv5115912,essv5101281,essv5116522,essv5069157,essv5089835,essv5020899,essv5043321,essv5024593,essv5142847,essv5066661,essv5026684,essv5016791,essv5019885,essv5117112,essv5154307,essv5010935,essv5047149,essv5111953,essv5146704,essv5083786,essv5011809,essv5053186,essv5154906,essv5139246,essv5002891,essv5154478,essv5118281,essv5031381,essv5084413,essv5141735,essv5045041,essv5052017,essv5003965,essv5076355,essv5066002,essv5041245,essv5113806,essv5013280,essv5022501,essv5150215,essv5067189,essv5069312,essv5018968,essv5112714,essv5158167,essv5130481,essv5002099,essv5148370,essv5119976,essv5125133,essv5061644,essv5120743,essv5098474,essv5099010,essv5143144,essv5024801,essv5137625,essv5091889,essv5026823,essv5017554,essv5111586,essv5033921,essv5039302,essv5072598,essv5011517,essv5124895,essv5092609,essv5016215,essv5102078,essv5087339,essv5057980,essv5154220,essv5008131,essv5051876,essv5006952,essv5122299,essv5140648,essv5135073,essv5116426,essv5003625,essv5100284,essv5090979,essv5010150,essv5072914,essv5067798,essv5078120,essv5157358,essv5143612,essv5044300,essv5010672,essv5092612,essv5037714,essv5112217,essv5144241,essv5087868,essv5041422,essv5071680,essv5098035,essv5112476,essv5135340,essv5106172,essv5106846,essv5142849,essv5109473,essv5037073,essv5145555,essv5155796,essv5069955,essv5002132,essv5039429,essv5039847,essv5077539,essv5125628,essv5088622,essv5093360,essv5030852,essv5117970,essv5115050,essv5123212,essv5091427,essv5053253,essv5034052,essv5117420,essv5091512,essv5128543,essv5079494,essv5055815,essv5012087,essv5096235,essv5128971,essv5069626,essv5007065,essv5105607,essv5145482,essv5071792,essv5128371,essv5125450,essv5145957,essv5144566,essv5049795,essv5061547,essv5114841,essv5014409,essv5016602,essv5115386,essv5084701,essv5143512,essv5158626,essv5036450,essv5043479,essv5047635,essv5150806,essv5014047,essv5013426,essv5054621,essv5160233,essv5137089,essv5067085,essv5095102,essv5064942,essv5134156,essv5083028,essv5138169,essv5019676,essv5007185,essv5152209,essv5076327,essv5127662,essv5004989,essv5145575,essv5073177,essv5146460,essv5049950,essv5112902,essv5018971,essv5108594,essv5015674,essv5053058,essv5140057,essv5093119,essv5073480,essv5124453,essv5155361,essv5013606,essv5072680,essv5040242,essv5063567,essv5144989,essv5076728,essv5089414,essv5055864,essv5088216,essv5146028,essv5139543,essv5041923,essv5109216,essv5134997,essv5073258,essv5127863,essv5120194,essv5082097,essv5006314,essv5109639,essv5005020,essv5045931,essv5072922,essv5112335,essv5045951,essv5026666,essv5083656,essv5080097,essv5111036,essv5148141,essv5048118,essv5109807,essv5061283,essv5003770,essv5137445,essv5113236,essv5134383,essv5014136,essv5046682,essv5108447,essv5067497,essv5048064,essv5031391,essv5023360,essv5051059,essv5136786,essv5071329,essv5131905,essv5010142,essv5108233,essv5033986,essv5016408,essv5035899,essv5143858,essv5029396,essv5070004,essv5090140,essv5138882,essv5107065,essv5110396,essv5145499,essv5005287,essv5147522,essv5115024,essv5084494,essv5055706,essv5028078,essv5119994,essv5153505,essv5060668,essv5006151,essv5018646,essv5056849,essv5014811,essv5002735,essv5085300,essv5048315,essv5103824,essv5093404,essv5151123,essv5029078,essv5124182,essv5100723,essv5101608,essv5015101,essv5129346,essv5139292,essv5130489,essv5011289,essv5005565,essv5046370,essv5054888,essv5042691,essv5159476,essv5002728,essv5034110,essv5148885,essv5045949,essv5156644,essv5050888,essv5011609,essv5079666,essv5112195,essv5052506,essv5038001,essv5156676,essv5066261,essv5073989,essv5075558,essv5131030,essv5114042,essv5156691,essv5050934,essv5109167,essv5120303,essv5150565,essv5074662,essv5151421,essv5140074,essv5027478,essv5019011,essv5119330,essv5120522,essv5108097,essv5017612,essv5143870,essv5022287,essv5030652,essv5094989,essv5140446,essv5014819,essv5083428,essv5149251,essv5104479,essv5058148,essv5112864,essv5026568,essv5132783,essv5111997,essv5003080,essv5101316,essv5047002,essv5119984,essv5094939,essv5149646,essv5097568,essv5102025,essv5053999,essv5110461,essv5078811,essv5064087,essv5028177,essv5002943,essv5140365,essv5066370,essv5062051,essv5023042,essv5097391,essv5137988,essv5043033,essv5057199,essv5050107,essv5120799,essv5056749,essv5037878,essv5151613,essv5023097,essv5076436,essv5115823,essv5014705,essv5131697,essv5034398,essv5042853,essv5023225,essv5038679,essv5078622,essv5015583,essv5108678,essv5132185,essv5031448,essv5020093,essv5137300,essv5095775,essv5157576,essv5126875,essv5009442,essv5079984,essv5153080,essv5074197,essv5060823,essv5023936,essv5078150,essv5104573,essv5111874,essv5128293,essv5023287,essv5017962,essv5160018,essv5060676,essv5078980,essv5033782,essv5123342,essv5151723,essv5011282,essv5072350,essv5152314,essv5048924,essv5068725,essv5020418,essv5136652,essv5061463,essv5101874,essv5068500,essv5034715,essv5096545,essv5012550,essv5144020,essv5101507,essv5081625,essv5021390,essv5135290,essv5005668,essv5101040,essv5020591,essv5124921,essv5091379,essv5029917,essv5041223,essv5024050,essv5150292,essv5009116,essv5087563,essv5096378,essv5052288,essv5018766,essv5153455,essv5056338,essv5040473,essv5104983,essv5148456,essv5008092,essv5150250,essv5113778,essv5115210,essv5130966,essv5029837,essv5151434,essv5081656,essv5096257,essv5094840,essv5064551,essv5058047,essv5112085,essv5119632,essv5006057,essv5006908,essv5103139,essv5020861,essv5159820,essv5065513,essv5069329,essv5136951,essv5145582,essv5144444,essv5130487,essv5065051,essv5059514,essv5066712,essv5118391,essv5144054,essv5068409,essv5130311,essv5122114,essv5031208,essv5046914,essv5069343,essv5078914,essv5151214,essv5085603,essv5097907,essv5094379,essv5103422,essv5081173,essv5128301,essv5072252,essv5030858,essv5039260,essv5070223,essv5065796,essv5051104,essv5043840,essv5117516,essv5035975,essv5024200,essv5051292,essv5101188,essv5087010,essv5070862,essv5008016,essv5055461,essv5018107,essv5079683,essv5090854,essv5031042,essv5112891,essv5127618,essv5112925,essv5145262,essv5049504,essv5028918,essv5122575,essv5045858,essv5002098,essv5086104,essv5074295,essv5050381,essv5151527,essv5054406,essv5009513,essv5117731,essv5123890,essv5091193,essv5055408,essv5066835,essv5120871,essv5115358,essv5057568,essv5121032,essv5111691,essv5078803,essv5031399,essv5117091,essv5049711,essv5100232,essv5079144,essv5091387,essv5029289,essv5045933,essv5139745,essv5068437,essv5108127,essv5107215,essv5004397,essv5013497,essv5142782,essv5145933,essv5067994,essv5087816,essv5047548,essv5018558,essv5045005,essv5040479,essv5048518,essv5019688,essv5152842,essv5075698,essv5010091,essv5128073,essv5153395,essv5050925,essv5130231,essv5135247,essv5134610,essv5119878,essv5064407,essv5070314,essv5103459,essv5054741,essv5065430,essv5016508,essv5147195,essv5072607,essv5134450,essv5080699,essv5059243,essv5110342,essv5071246,essv5073045,essv5046003,essv5116144,essv5101527,essv5050753,essv5129714,essv5150320,essv5017635,essv5117200,essv5061563,essv5006065,essv5149163,essv5107224,essv5064176,essv5144755,essv5090388,essv5105984,essv5099828,essv5140487,essv5012908,essv5122577,essv5006123,essv5067097,essv5053030,essv5094383,essv5104724,essv5098578,essv5113931,essv5132487,essv5021572,essv5127508,essv5038431,essv5048153,essv5129372,essv5160181,essv5086328,essv5139576,essv5049427,essv5019501,essv5128469,essv5030096,essv5051323,essv5067889,essv5018806,essv5096650,essv5148311,essv5056761,essv5018648,essv5010053,essv5080262,essv5138358,essv5102557,essv5093462,essv5043197,essv5034777,essv5056253,essv5135963,essv5014794,essv5137304,essv5039288,essv5005990,essv5073260,essv5086903,essv5001951,essv5049918,essv5003441,essv5017959,essv5056715,essv5039869,essv5049522,essv5076759,essv5040330,essv5106486,essv5071383,essv5035116,essv5009133,essv5097557,essv5036291,essv5142916,essv5015264,essv5154557,essv5158056,essv5079487,essv5027411,essv5137831,essv5109608,essv5109774,essv5069464,essv5098728,essv5111438,essv5039083,essv5015445,essv5004370,essv5068806,essv5050194,essv5016429,essv5048912,essv5160086,essv5155667,essv5109977,essv5141275,essv5007929,essv5056233,essv5084387,essv5006503,essv5159163,essv5119517,essv5058191,essv5134936,essv5138119,essv5144339,essv5065317,essv5145581,essv5066963,essv5151427,essv5139848,essv5061234,essv5003292,essv5085138,essv5115375,essv5038322,essv5058359,essv5064117,essv5094899,essv5037507,essv5008158,essv5097983,essv5124602,essv5106578,essv5090228,essv5073274,essv5019347,essv5118344,essv5122208,essv5142716,essv5042855,essv5101106,essv5124779,essv5041522,essv5064563,essv5035228,essv5094310,essv5105856,essv5095303,essv5024770,essv5118635,essv5068542,essv5055353,essv5066194,essv5117587,essv5033135,essv5001933,essv5044610,essv5126070,essv5017175,essv5140430,essv5128895,essv5136327,essv5055714,essv5116759,essv5081935,essv5121525,essv5028000,essv5152706,essv5046117,essv5140202,essv5076311,essv5151405,essv5089355,essv5124674,essv5099352,essv5117019,essv5064913,essv5063998,essv5039620,essv5093841,essv5161034,essv5112030,essv5123114,essv5017385,essv5113525,essv5095364,essv5065929,essv5158155,essv5014569,essv5094695,essv5103336,essv5071562,essv5037856,essv5077664,essv5159035,essv5138842,essv5105347,essv5056659,essv5040544,essv5003797,essv5121709,essv5008125,essv5040162,essv5147553,essv5120679,essv5061322,essv5012062,essv5144672,essv5076977,essv5009516,essv5125027,essv5079787,essv5065157,essv5042363,essv5077281,essv5119052,essv5080078,essv5076251,essv5076636,essv5039931,essv5123049,essv5074122,essv5094153,essv5120662,essv5153917,essv5023644,essv5006649,essv5012268,essv5049430,essv5075441,essv5044474,essv5101888,essv5099161,essv5032352,essv5011765,essv5061406,essv5063294,essv5049320,essv5131428,essv5129036,essv5046102,essv5115820,essv5015215,essv5051358,essv5068136,essv5154321,essv5044721,essv5129071,essv5093820,essv5074984,essv5057933,essv5126193,essv5110613,essv5116980,essv5137756,essv5135438,essv5039891,essv5059866,essv5009595,essv5156543,essv5040716,essv5069583,essv5119042,essv5020347,essv5041427,essv5142222,essv5026060,essv5156876,essv5118626,essv5134157,essv5159747,essv5021125,essv5145686,essv5002745,essv5160652,essv5140109,essv5110157,essv5036479,essv5061528,essv5009158,essv5005678,essv5107235,essv5076834,essv5047538,essv5030627,essv5019921,essv5022094,essv5133537,essv5012558,essv5004379,essv5056865,essv5094287,essv5035053,essv5086352,essv5102031,essv5152776,essv5146545,essv5119592,essv5034948,essv5044483,essv5043681,essv5047103,essv5121337,essv5105322,essv5097033,essv5036806,essv5082514,essv5107453,essv5061250,essv5133141,essv5096496,essv5135054,essv5127419,essv5084307,essv5050469,essv5092343,essv5025016,essv5139979,essv5073178,essv5155712,essv5069582,essv5138348,essv5068949,essv5027321,essv5024346,essv5117297,essv5088464,essv5096475,essv5144201,essv5005355,essv5127146,essv5064279,essv5085688,essv5053486,essv5088691,essv5058822,essv5094421,essv5146187,essv5115996,essv5051449,essv5052653,essv5018697,essv5006267,essv5042240,essv5029519,essv5074515,essv5012030,essv5095816,essv5056625,essv5014535,essv5079889 M 1184 0 1081 HLA-DRB1,HLA-DRB5,HLA-DRB6 NA06984,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11882,NA11891,NA11892,NA11893,NA11918,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12336,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12376,NA12383,NA12386,NA12399,NA12400,NA12489,NA12546,NA12707,NA12708,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12874,NA12877,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18488,NA18489,NA18497,NA18498,NA18499,NA18503,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18953,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19044,NA19054,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19324,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19404,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19649,NA19650,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19681,NA19682,NA19683,NA19684,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19795,NA19796,NA19818,NA19819,NA19835,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19916,NA19918,NA19919,NA19921,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20290,NA20291,NA20292,NA20294,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20332,NA20333,NA20336,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20543,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20785,NA20786,NA20790,NA20792,NA20795,NA20796,NA20797,NA20800,NA20802,NA20803,NA20804,NA20805,NA20807,NA20809,NA20810,NA20811,NA20813,NA20816,NA20818,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20851,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21091,NA21092,NA21094,NA21097,NA21099,NA21101,NA21102,NA21103,NA21104,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21631,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 dgv1023n67 6 32605201 32605946 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823561,nsv823557 M 31 0 2 HLA-DRB5 NA18526,NA18566 nsv819451 6 32605230 32628535 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418689 S 2 0 1 HLA-DRB5,HLA-DRB6 AK1 nsv885048 6 32606019 32611857 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499816 S 6533 1 0 "" SP50125 dgv6711n71 6 32606390 32624385 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885084,nsv885054 M 6533 3 2 "" IS30829,IS39666,MS12648,MS22321,SP56701 nsv885079 6 32606992 32615216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511776 S 6533 1 0 "" SP55074 dgv6712n71 6 32606992 32620142 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885109,nsv885100,nsv885080,nsv885103 M 6533 0 5 "" IS31576,IS33239,IS37999,SP57138,SP81574 dgv6713n71 6 32606992 32620591 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885081,nsv885110,nsv885108,nsv885125 M 6533 31 17 "" IS30835,IS31323,IS31330,IS31390,IS33665,IS34407,IS36458,IS36527,IS36893,IS38176,IS38239,IS39258,IS40227,IS40309,IS40819,IS40956,IS41634,MS10769,MS10872,MS11467,MS16398,MS17359,MS17691,MS18070,MS18828,MS21252,MS21732,MS22013,MS22894,MS23875,MS24877,MS25285,MS25451,SP50843,SP50914,SP51179,SP52147,SP52500,SP52800,SP53969,SP54769,SP55795,SP56458,SP56731,SP81073,SP81198,SP81266,SP81422 esv1665592 6 32607287 32608789 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104347 S 2 0 1 "" HuRef dgv6714n71 6 32609122 32622122 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885126,nsv885111,nsv885107,nsv885134,nsv885144 M 6533 11 0 "" IS38108,IS38252,MS17680,MS24940,MS25674,SP50820,SP51043,SP51254,SP52256,SP56580,SP80948 dgv6715n71 6 32609122 32624385 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885112,nsv885145 M 6533 4 0 "" IS35011,MS12863,SP50552,SP56042 dgv6716n71 6 32609122 32630472 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885136,nsv885114,nsv885137,nsv885128,nsv885129,nsv885135,nsv885130,nsv885180,nsv885147,nsv885113 M 6533 16 0 HLA-DRB6 IS30483,IS31227,IS35667,MS10433,MS13436,MS22728,MS25625,SP50954,SP52656,SP53448,SP55102,SP55791,SP56023,SP56889,SP56950,SP56971 dgv6717n71 6 32609122 32681607 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885226,nsv885200,nsv885173,nsv885174,nsv885124 M 6533 8 0 HLA-DRB1,HLA-DRB6 IS34954,IS35982,IS39272,MS11823,MS23152,SP50783,SP81083,SP81467 esv999877 6 32609297 32646339 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586741 S 3 1 0 HLA-DRB6 HuRef dgv6718n71 6 32610165 32629229 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885127,nsv885149,nsv885146,nsv885148 M 6533 14 18 HLA-DRB6 IS30319,IS31022,IS32166,IS34748,IS35436,IS35499,IS39494,IS40326,IS40429,IS41319,IS41795,IS41927,MS14334,MS15347,MS15803,SP50145,SP50555,SP50598,SP50984,SP51158,SP52101,SP52331,SP52772,SP53490,SP54095,SP54455,SP55460,SP55469,SP56032,SP56304,SP57551,SP81440 dgv6719n71 6 32610165 32677665 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885273,nsv885133,nsv885272,nsv885171,nsv885199,nsv885238,nsv885225,nsv885271,nsv885276,nsv885274,nsv885255 M 6533 11 0 HLA-DRB1,HLA-DRB6 IS30564,IS35111,IS35169,IS35388,IS35742,IS37664,MS18956,SP51219,SP53838,SP55279,SP81003 essv22046 6 32610887 32634805 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. HLA-DRB6 NA12154 dgv1934e1 6 32610887 32650604 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv801,essv13172,essv8814,essv21294,essv15755,essv2692,essv22297,essv1257,essv4186,essv10798,essv7743,essv14114,essv24304,essv8773,essv22996,essv4480,essv2825,essv4803,essv16858,essv12790,essv9466,essv5794,essv9208,essv24806,essv1637,essv20319,essv19606,essv4138,essv10374,essv10090,essv8441,essv12520,essv20363,essv13706,essv11837,essv14423,essv1166,essv9061,essv16314,essv4950,essv20958,essv17641,essv19252,essv9345,essv5042,essv11528,essv10639,essv6608,essv23008,essv22523,essv17777,essv11451,essv20569,essv8374,essv24981,essv18863,essv15000,essv21407,essv5326,essv6333,essv17736,essv9668,essv21521,essv16124,essv12733,essv1441,essv5513,essv4625,essv13515,essv20677,essv22747,essv456,essv15383,essv21238,essv1963,essv16517,essv7341,essv18267,essv410 M 271 0 0 HLA-DRB6 NA06985,NA07019,NA07056,NA07357,NA10830,NA10831,NA10838,NA10839,NA10846,NA10855,NA10856,NA10860,NA11830,NA11881,NA11882,NA12155,NA12236,NA12740,NA12751,NA12801,NA12812,NA12872,NA12873,NA12892,NA18508,NA18516,NA18523,NA18526,NA18542,NA18552,NA18555,NA18563,NA18566,NA18570,NA18576,NA18594,NA18609,NA18620,NA18621,NA18632,NA18637,NA18853,NA18855,NA18857,NA18858,NA18861,NA18870,NA18913,NA18914,NA18942,NA18944,NA18951,NA18952,NA18959,NA18967,NA18971,NA18973,NA18987,NA18995,NA19092,NA19100,NA19102,NA19119,NA19120,NA19128,NA19130,NA19131,NA19132,NA19160,NA19173,NA19193,NA19201,NA19203,NA19205,NA19207,NA19208,NA19210,NA19221,NA19222 dgv1935e1 6 32610887 32813412 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7167,essv18220,essv15868,essv3341,essv18414,essv6716,essv24078,essv13140,essv8238,essv18634,essv19006,essv15259,essv21845,essv11142,essv17161,essv22326,essv24785,essv1849,essv16715,essv11028,essv22211,essv13744,essv23687,essv12163,essv15104,essv9881,essv21037,essv8119,essv14625,essv16959,essv17662,essv14688,essv23387,essv22504,essv17350,essv19988,essv23920,essv23603,essv25026,essv14568,essv9630,essv10933,essv19101,essv15675,essv16230,essv21561,essv13605,essv22567,essv22358,essv15993,essv17934,essv1104,essv3295,essv2284,essv10201,essv11705,essv10330 M 271 0 0 HLA-DQA1,HLA-DQB1,HLA-DRB1,HLA-DRB6 NA06985,NA06991,NA07048,NA07055,NA07348,NA10839,NA10859,NA10860,NA10863,NA11839,NA11881,NA11882,NA12003,NA12005,NA12006,NA12044,NA12057,NA12234,NA12249,NA12750,NA12814,NA12873,NA12875,NA18501,NA18506,NA18547,NA18608,NA18856,NA18912,NA18945,NA18964,NA18966,NA18972,NA18976,NA19093,NA19094,NA19101,NA19102,NA19116,NA19127,NA19129,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19202,NA19206,NA19209,NA19211,NA19223 dgv6720n71 6 32611466 32633666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885152,nsv885138,nsv885151,nsv885150,nsv885153,nsv885181,nsv885184,nsv885183,nsv885182,nsv885195,nsv885194,nsv885212,nsv885214 M 6533 0 26 HLA-DRB6 IS30163,IS31396,IS33580,IS38554,MS16038,MS16832,MS19703,MS23205,SP50084,SP50109,SP50522,SP51051,SP51480,SP52371,SP52612,SP53330,SP54117,SP54747,SP55022,SP55200,SP55277,SP55526,SP56152,SP56816,SP56957,SP58031 dgv6721n71 6 32611857 32639723 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885157,nsv885247,nsv885154,nsv885196,nsv885248,nsv885218 M 6533 19 34 HLA-DRB6 IS30384,IS30506,IS30835,IS31166,IS31729,IS32411,IS32737,IS33830,IS34570,IS35312,IS35461,IS35880,IS35972,IS36876,IS38126,IS40129,IS40186,IS40639,IS40676,IS41798,IS41802,MS10184,MS12003,MS12606,MS14516,MS15782,MS17306,MS18929,MS19454,MS22089,MS22411,MS22645,MS22765,MS24337,MS24489,SP50692,SP50940,SP51170,SP52893,SP54941,SP56356,SP56419,SP56830,SP57061,SP57176,SP57254,SP58400,SP58432,SP80971,SP81105,SP81107,SP81181,SP81454 dgv6722n71 6 32611857 32657541 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885263,nsv885161,nsv885162,nsv885253,nsv885189,nsv885222,nsv885270,nsv885235,nsv885234,nsv885252,nsv885251 M 6533 0 15 HLA-DRB1,HLA-DRB6 IS36957,IS39958,IS40368,MS11061,MS13400,MS14919,MS16711,MS23583,SP53333,SP53827,SP54861,SP56085,SP56100,SP57243,SP81067 dgv6723n71 6 32611857 32660003 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885165,nsv885254 M 6533 3 3 HLA-DRB1,HLA-DRB6 IS30191,IS32329,IS35179,IS41982,SP56343,SP58480 esv272323 6 32611974 32612255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584101,essv2583773 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv6724n71 6 32613708 32625376 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885177,nsv885176 M 6533 0 2 "" SP51134,SP53791 dgv6725n71 6 32613708 32629229 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885190,nsv885191,nsv885179,nsv885178,nsv885203,nsv885205,nsv885207 M 6533 50 32 HLA-DRB6 IS30166,IS30178,IS30332,IS30340,IS30348,IS31183,IS31234,IS32395,IS32944,IS33514,IS33529,IS34432,IS34807,IS35253,IS36337,IS37326,IS37498,IS37609,IS37892,IS38110,IS38208,IS38313,IS38440,IS39000,IS40157,IS40299,IS40349,IS40446,IS40685,IS40898,IS41908,MS10195,MS10574,MS10925,MS12109,MS12572,MS12776,MS13511,MS14897,MS15600,MS17537,MS18130,MS18598,MS20987,MS21236,MS22505,MS23117,MS23257,MS23495,MS25966,SP50120,SP50631,SP50644,SP50661,SP51118,SP51143,SP51332,SP51389,SP52051,SP52174,SP52729,SP53251,SP53288,SP53401,SP53585,SP53834,SP54060,SP54119,SP54593,SP55189,SP55353,SP55417,SP55508,SP57268,SP57355,SP57585,SP57723,SP57905,SP57941,SP58450,SP81019,SP81386 dgv6726n71 6 32613708 32639223 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885217,nsv885246,nsv885244,nsv885231,nsv885216,nsv885230,nsv885260,nsv885185 M 6533 0 36 HLA-DRB6 IS31282,IS31576,IS31656,IS32167,IS32680,IS33455,IS34530,IS35372,IS37292,IS37689,IS39408,IS39863,IS40169,MS10094,MS12718,MS13030,MS13281,MS13552,MS14883,MS16108,MS16368,MS17986,MS21252,MS22013,MS23780,MS24343,MS24774,MS25440,SP53994,SP54544,SP55278,SP57140,SP57324,SP57689,SP58068,SP81072 dgv6727n71 6 32613708 32643859 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885219,nsv885220,nsv885187,nsv885233,nsv885232,nsv885186,nsv885239,nsv885249 M 6533 0 27 HLA-DRB6 IS30193,IS34141,IS38179,IS38642,IS39365,IS41783,MS10590,MS11675,MS15628,MS16607,MS16851,MS17067,MS17554,MS17697,MS20967,MS21558,MS24210,MS24365,MS25099,MS25976,SP50746,SP52053,SP54636,SP56132,SP56426,SP56780,SP56914 dgv6728n71 6 32615216 32630692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885193,nsv885242,nsv885208,nsv885192,nsv885202,nsv885201,nsv885209,nsv885204,nsv885227,nsv885241,nsv885240,nsv885243,nsv885210,nsv885211,nsv885206 M 6533 0 55 HLA-DRB6 IS36173,MS13762,MS14324,MS18182,MS23949,MS25943,SP50171,SP50593,SP50683,SP50823,SP50850,SP50927,SP52057,SP52574,SP52661,SP53303,SP53563,SP53964,SP53990,SP54197,SP54468,SP54480,SP54543,SP54734,SP54979,SP55160,SP55267,SP55551,SP55586,SP55655,SP55800,SP55820,SP55926,SP55946,SP56224,SP56350,SP56380,SP56795,SP56805,SP56846,SP56856,SP56976,SP56987,SP57193,SP57347,SP57453,SP57950,SP57951,SP80936,SP80955,SP81097,SP81189,SP81238,SP81352,SP81407 nsv885197 6 32615216 32639723 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557034 S 6533 1 0 HLA-DRB6 MS22338 dgv6729n71 6 32615216 32660003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885224,nsv885262,nsv885198,nsv885223,nsv885269 M 6533 6 0 HLA-DRB1,HLA-DRB6 IS35447,IS38072,MS14824,SP51111,SP51231,SP57564 dgv6730n71 6 32616207 32636891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885228,nsv885245,nsv885213,nsv885215,nsv885229,nsv885256 M 6533 14 0 HLA-DRB6 IS30542,IS33166,IS33175,IS34830,IS35162,IS35431,IS37628,IS38129,IS38544,IS39564,IS40027,IS40130,IS40248,IS40568 dgv6731n71 6 32616865 32666924 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885236,nsv885237,nsv885261 M 6533 0 4 HLA-DRB1,HLA-DRB6 MS11022,MS21776,SP50775,SP56882 nsv885250 6 32617963 32647375 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544608,nssv1521546,nssv1525198,nssv1588741 M 6533 2 2 HLA-DRB6 IS38239,MS16398,SP52428,SP56348 dgv6732n71 6 32619546 32639723 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885265,nsv885257,nsv885267,nsv885266 M 6533 7 0 HLA-DRB6 IS31081,IS35549,IS36656,MS16436,MS18414,MS20355,MS23330 nsv885258 6 32619650 32629229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512123 S 6533 1 0 HLA-DRB6 SP55287 dgv6733n71 6 32620142 32632659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885264,nsv885259 M 6533 0 3 HLA-DRB6 SP51486,SP57217,SP80913 esv2398564 6 32620513 32621122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577348 S 1 0 1 "" NA18507 dgv6734n71 6 32622122 32650822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885268,nsv885288 M 6533 0 2 HLA-DRB6 IS38521,SP50880 esv271840 6 32622480 32624269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512461,essv2501680,essv2508586,essv2493483,essv2510610,essv2513447,essv2509499,essv2502217,essv2513051 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12043,NA12144,NA12717,NA12763,NA18501,NA18907,NA19129,NA19257 dgv107e19 6 32622494 32649035 CNV Loss Ahn et al 2009 19470904 Sequencing esv7402,esv6727 M 1 0 1 HLA-DRB6 SJK esv1069045 6 32623093 32623093 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819876 S 2 1 0 "" HuRef nsv885275 6 32624385 32643859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551036 S 6533 1 0 HLA-DRB6 MS18742 nsv885277 6 32626983 32641450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582141 S 6533 0 1 HLA-DRB6 IS35800 dgv6735n71 6 32626983 32660003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885302,nsv885301,nsv885278 M 6533 3 0 HLA-DRB1,HLA-DRB6 IS30196,MS22122,SP81024 dgv6736n71 6 32626983 32674134 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885362,nsv885341,nsv885329,nsv885378,nsv885279,nsv885291,nsv885304,nsv885327,nsv885339,nsv885343,nsv885340,nsv885361,nsv885377,nsv885342 M 6533 0 49 HLA-DRB1,HLA-DRB6 IS30235,IS30317,IS32766,IS33732,IS34218,IS34837,IS35083,IS35142,IS36196,IS38137,IS38380,IS40188,IS40223,IS40374,IS40582,IS40643,IS40966,IS41009,MS11159,MS11482,MS14658,MS14769,MS17609,MS20039,MS21036,MS23886,MS25451,SP50742,SP50767,SP51235,SP52651,SP52685,SP52886,SP53503,SP56005,SP56013,SP56116,SP56143,SP56724,SP56750,SP56952,SP57181,SP57379,SP57983,SP57986,SP58310,SP80916,SP81060,SP81422 dgv6737n71 6 32628011 32639223 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885285,nsv885280,nsv885284,nsv885281,nsv885283 M 6533 10 0 HLA-DRB6 SP50532,SP50859,SP51140,SP52390,SP54127,SP54750,SP54768,SP55835,SP56707,SP57274 nsv885282 6 32628250 32635771 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505486 S 6533 1 0 HLA-DRB6 SP53572 dgv6738n71 6 32628250 32678378 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885306,nsv885286,nsv885308,nsv885305,nsv885331,nsv885330,nsv885303,nsv885332,nsv885307,nsv885328 M 6533 15 0 HLA-DRB1,HLA-DRB6 IS35146,IS38348,MS20211,SP50856,SP52165,SP52537,SP53947,SP54776,SP55670,SP55787,SP55911,SP56041,SP56248,SP56766,SP57534 nsv819349 6 32628535 32654675 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418703 S 2 1 0 HLA-DRB1,HLA-DRB6 AK1 dgv6739n71 6 32628796 32660003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885356,nsv885290,nsv885320,nsv885325,nsv885321,nsv885287,nsv885289,nsv885311,nsv885312,nsv885323,nsv885326,nsv885338,nsv885337,nsv885357,nsv885348,nsv885322 M 6533 0 41 HLA-DRB1,HLA-DRB6 IS33676,IS34185,IS35073,IS36570,IS38549,IS39625,IS41818,MS23885,SP50059,SP50074,SP50109,SP50652,SP51016,SP51480,SP51485,SP53330,SP53490,SP54043,SP54383,SP54672,SP55219,SP55469,SP55470,SP55493,SP55797,SP56002,SP56032,SP56138,SP56783,SP57190,SP57238,SP57278,SP57341,SP57368,SP57418,SP57449,SP57482,SP57518,SP80913,SP80930,SP81440 nsv823562 6 32629656 32631083 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433682 S 31 1 0 HLA-DRB6 NA18526 nsv823563 6 32629656 32654653 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425013 S 31 0 1 HLA-DRB1,HLA-DRB6 AK2 dgv6740n71 6 32630503 32643859 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885313,nsv885292 M 6533 28 2 HLA-DRB6 IS30177,IS32361,IS33066,IS38252,IS38350,IS40302,MS10872,MS12863,MS13351,MS14290,MS14513,MS14786,MS15972,MS16455,MS17373,MS17691,MS18828,MS18976,MS19553,MS21460,MS21483,MS22728,MS22928,MS24719,MS25241,MS25789,SP51477,SP54936,SP58306,SP81432 dgv6741n71 6 32630503 32648019 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885316,nsv885295,nsv885293 M 6533 19 0 HLA-DRB6 IS34020,IS35140,IS35277,IS36412,IS37975,IS38058,IS38108,IS40135,MS10378,MS11858,MS14289,MS14339,MS14500,MS16214,MS17680,MS24877,MS25285,MS25674,SP51259 dgv6742n71 6 32630503 32650112 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885294,nsv885335,nsv885315,nsv885317 M 6533 0 15 HLA-DRB6 IS30051,IS33304,IS34081,IS36423,IS40538,MS10731,MS15383,MS17130,SP50129,SP51132,SP51158,SP54455,SP54456,SP57453,SP57925 dgv6743n71 6 32630503 32656281 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885296,nsv885354,nsv885336,nsv885353,nsv885299,nsv885298,nsv885300,nsv885297,nsv885309,nsv885310,nsv885318,nsv885355 M 6533 19 0 HLA-DRB1,HLA-DRB6 IS30487,IS30667,IS30781,IS34762,IS35358,IS37458,IS38322,IS39119,IS40449,MS10674,MS14110,MS18620,MS19340,MS20047,MS22707,SP53528,SP54526,SP56197,SP56549 dgv6744n71 6 32632202 32647375 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885314,nsv885334 M 6533 16 44 HLA-DRB6 IS30280,IS31145,IS31228,IS32732,IS32858,IS32990,IS34429,IS34526,IS35107,IS35279,IS35294,IS35877,IS36364,IS38012,IS38648,IS40111,IS40415,IS40495,IS40544,IS40843,IS40956,IS41525,IS41782,IS41906,MS10729,MS13050,MS13240,MS14157,MS15915,MS16314,MS16343,MS16722,MS17014,MS17305,MS18451,MS20627,MS23713,MS23875,MS24083,MS25902,SP50573,SP50597,SP51377,SP52297,SP52318,SP52379,SP52458,SP52579,SP52872,SP53474,SP53550,SP54134,SP54833,SP54836,SP56448,SP56582,SP56733,SP57701,SP58443,SP81149 dgv6745n71 6 32632202 32660003 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885324,nsv885319 M 6533 5 3 HLA-DRB1,HLA-DRB6 IS30228,IS30605,IS41871,MS12510,MS18529,MS22179,SP55077,SP55084 dgv6746n71 6 32632202 32677665 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885333,nsv885380 M 6533 8 2 HLA-DRB1,HLA-DRB6 IS30300,MS10227,MS13759,MS18911,MS22807,MS25675,SP51065,SP51250,SP52593,SP56863 nsv515036 6 32632216 32680578 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627039 S 1414 0 0 HLA-DRB1,HLA-DRB6 dgv6747n71 6 32632659 32689074 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885345,nsv885369,nsv885344,nsv885347,nsv885346,nsv885368 M 6533 0 6 HLA-DRB1,HLA-DRB6 IS30277,IS33566,IS33839,IS38219,IS40890,IS41292 nsv823566 6 32634724 32650687 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426804 S 31 1 0 HLA-DRB6 NA18947 dgv1024n67 6 32634724 32656880 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823567,nsv823573,nsv823568,nsv823571,nsv823569,nsv823570,nsv823572,nsv823565 M 31 0 9 HLA-DRB1,HLA-DRB6 AK12,AK18,AK20,AK8,NA18526,NA18552,NA18566,NA18951,NA18972 dgv1936e1 6 32634806 32650604 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4566,essv19188,essv17878,essv18975,essv2259,essv11748 M 271 0 0 HLA-DRB6 NA12003,NA12005,NA12865,NA18504,NA18524,NA18966 nsv885349 6 32635057 32647375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513615,nssv1507224 M 6533 0 2 HLA-DRB6 SP54509,SP55807 dgv6748n71 6 32635057 32650822 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885382,nsv885371,nsv885352,nsv885350,nsv885351,nsv885364,nsv885370,nsv885383 M 6533 17 0 HLA-DRB6 IS35379,IS35803,IS38471,IS39116,MS10733,MS14801,MS16774,MS23301,SP50080,SP50527,SP50942,SP51265,SP52573,SP54682,SP54937,SP55174,SP81464 dgv6749n71 6 32635057 32660003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885365,nsv885421,nsv885412,nsv885358,nsv885395,nsv885405 M 6533 7 0 HLA-DRB1,HLA-DRB6 IS30332,IS36248,IS39369,IS41992,SP56324,SP56833,SP81015 dgv6750n71 6 32635057 32668837 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885407,nsv885398,nsv885396,nsv885399,nsv885423,nsv885414,nsv885417,nsv885359,nsv885366,nsv885367,nsv885416,nsv885406,nsv885432,nsv885429 M 6533 42 0 HLA-DRB1,HLA-DRB6 IS30201,IS30923,IS31306,IS31543,IS31576,IS31766,IS31837,IS32828,IS33460,IS33553,IS35287,IS35385,IS35743,IS36298,IS37577,IS39095,IS39399,IS39438,IS39512,IS40245,MS12196,SP50076,SP50721,SP50825,SP51261,SP51290,SP52270,SP52351,SP52464,SP52523,SP54338,SP55032,SP55321,SP55500,SP55834,SP57603,SP57945,SP58205,SP58249,SP58325,SP81403,SP81461 dgv6751n71 6 32635057 32674134 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885360,nsv885418,nsv885433,nsv885400 M 6533 31 5 HLA-DRB1,HLA-DRB6 IS30340,IS31227,IS33340,IS34005,IS34964,IS35162,IS35297,IS35300,IS35380,IS35728,IS36559,IS37156,IS38110,IS38309,IS39000,IS39026,IS39450,IS41858,MS11058,MS12606,MS15041,MS17316,MS24584,SP50086,SP50592,SP50612,SP51067,SP53003,SP53332,SP54047,SP54118,SP54312,SP55362,SP57723,SP81416,SP81469 dgv6752n71 6 32635057 32677665 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885425,nsv885401,nsv885419,nsv885381,nsv885379,nsv885363,nsv885402,nsv885426,nsv885427,nsv885434,nsv885428 M 6533 20 0 HLA-DRB1,HLA-DRB6 IS31022,IS32518,IS32602,IS32775,IS33837,IS35007,IS35342,IS35499,IS35565,IS35667,IS38291,IS38645,IS38804,IS39181,IS39838,SP50023,SP51115,SP54704,SP57044,SP57874 dgv6753n71 6 32636891 32656612 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885387,nsv885403,nsv885386,nsv885384,nsv885409,nsv885404,nsv885385,nsv885420,nsv885408,nsv885372,nsv885390,nsv885389,nsv885411,nsv885393,nsv885410,nsv885391 M 6533 71 0 HLA-DRB1 IS30483,IS30542,IS33590,IS33935,IS34361,IS35411,IS35439,IS38151,IS38220,IS38371,IS38402,IS38425,IS38440,IS38496,IS39061,IS40299,IS41724,IS41837,IS41908,MS10837,MS12602,MS13511,MS15752,MS16355,MS16902,MS16917,MS17224,MS17774,MS19184,MS24108,MS24864,SP50176,SP50574,SP50598,SP50776,SP50882,SP50996,SP51021,SP51056,SP51144,SP51244,SP51260,SP52051,SP52621,SP53221,SP53320,SP54042,SP54083,SP54299,SP54559,SP54627,SP54725,SP54808,SP54884,SP55013,SP55034,SP55039,SP55102,SP55451,SP55662,SP56023,SP56094,SP56104,SP56922,SP56950,SP57268,SP57376,SP57640,SP57905,SP58215,SP58465 dgv6754n71 6 32636891 32660003 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885375,nsv885392,nsv885413,nsv885388,nsv885373,nsv885394,nsv885374 M 6533 38 12 HLA-DRB1 IS31587,IS32664,IS34770,IS35099,IS35726,IS35993,IS36273,IS36939,IS37498,IS41860,IS41926,MS16643,MS19083,MS19630,SP50117,SP50182,SP50936,SP50943,SP51143,SP51267,SP51481,SP52364,SP52729,SP53349,SP53933,SP54058,SP54580,SP54648,SP54673,SP54753,SP54782,SP55005,SP55610,SP55692,SP55694,SP55747,SP55820,SP55835,SP55992,SP56304,SP57067,SP57273,SP57891,SP58265,SP80928,SP80960,SP81187,SP81359,SP81387,SP81412 dgv6755n71 6 32636891 32668837 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885397,nsv885415,nsv885422,nsv885424,nsv885431,nsv885376 M 6533 0 6 HLA-DRB1 MS15727,SP52378,SP54295,SP57138,SP58240,SP81389 nsv885430 6 32643872 32663706 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533018,nssv1588912,nssv1538527,nssv1560208,nssv1565444,nssv1563636 M 6533 6 0 HLA-DRB1 IS30423,IS38265,MS10983,MS13758,MS24372,MS26140 dgv1025n67 6 32644521 32657045 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823576,nsv823574,nsv823577 M 31 0 4 HLA-DRB1 AK14,NA18547,NA18564,NA18942 nsv885435 6 32645268 32656281 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500867 S 6533 0 1 HLA-DRB1 SP51132 dgv6756n71 6 32645268 32659917 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885437,nsv885436,nsv885439,nsv885443 M 6533 4 0 HLA-DRB1 SP51293,SP52130,SP52529,SP55212 dgv6757n71 6 32647375 32677665 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885441,nsv885442,nsv885447,nsv885438,nsv885485,nsv885474,nsv885449,nsv885448 M 6533 35 0 HLA-DRB1 IS33292,IS39745,IS40137,IS40943,IS41340,IS41901,MS12482,MS15198,MS18005,MS20747,MS24223,SP50137,SP50523,SP50597,SP50839,SP51054,SP51506,SP53036,SP53999,SP54617,SP55126,SP55156,SP56072,SP56631,SP56797,SP56870,SP57148,SP57570,SP57574,SP57654,SP58003,SP58452,SP81119,SP81381,SP81383 dgv6758n71 6 32648019 32668837 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885470,nsv885444,nsv885440,nsv885445 M 6533 6 0 HLA-DRB1 SP50535,SP50660,SP56289,SP81036,SP81417,SP81513 dgv6759n71 6 32648196 32672677 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885446,nsv885471 M 6533 3 6 HLA-DRB1 IS31228,IS32644,IS32843,IS37452,IS41758,IS41771,MS12986,MS18451,SP53347 dgv6760n71 6 32648196 32681607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885462,nsv885492,nsv885475,nsv885451,nsv885450,nsv885456,nsv885476 M 6533 0 7 HLA-DRB1 IS33196,IS34387,IS38464,IS39716,IS41113,SP51019,SP51132 dgv6761n71 6 32650112 32659917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885460,nsv885452 M 6533 0 8 HLA-DRB1 SP50521,SP50829,SP51473,SP52025,SP54456,SP54509,SP55807,SP56267 dgv6762n71 6 32650112 32674134 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885473,nsv885454,nsv885455,nsv885453,nsv885461 M 6533 0 15 HLA-DRB1 IS34429,IS35279,IS36183,IS38012,IS38513,IS38594,IS41263,MS13916,MS16343,MS16398,MS22109,MS24083,SP52872,SP54833,SP57701 nsv823578 6 32650326 32654597 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436657 S 31 0 1 HLA-DRB1 NA18542 dgv1026n67 6 32650326 32657045 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823580,nsv823579 M 31 0 2 HLA-DRB1 AK16,NA18570 dgv6763n71 6 32650822 32657541 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885458,nsv885457 M 6533 7 0 HLA-DRB1 SP50615,SP52656,SP53448,SP54471,SP55027,SP55345,SP81059 dgv6764n71 6 32650822 32660394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885459,nsv885468 M 6533 2 0 HLA-DRB1 SP50085,SP56874 nsv823581 6 32650939 32653250 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428312 S 31 0 1 "" AK10 dgv6765n71 6 32651518 32656612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885464,nsv885463 M 6533 0 4 HLA-DRB1 SP50914,SP51436,SP54816,SP55265 dgv6766n71 6 32651518 32659917 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885465,nsv885467,nsv885466 M 6533 8 11 HLA-DRB1 SP50025,SP50519,SP50979,SP51254,SP52147,SP52377,SP52677,SP52914,SP53734,SP54661,SP54769,SP55699,SP56107,SP56200,SP56238,SP56373,SP56505,SP56926,SP56971 dgv6767n71 6 32651518 32666924 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885487,nsv885469,nsv885482,nsv885481 M 6533 6 0 HLA-DRB1 SP51494,SP52003,SP52109,SP55748,SP55765,SP55984 dgv6768n71 6 32651518 32674272 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885497,nsv885483,nsv885486,nsv885500,nsv885484,nsv885490,nsv885493,nsv885499,nsv885491,nsv885488,nsv885489,nsv885472 M 6533 33 0 HLA-DRB1 IS33330,IS34051,IS34312,SP50527,SP50561,SP51307,SP51398,SP51427,SP51483,SP52455,SP52925,SP53044,SP53863,SP54355,SP54430,SP54551,SP54552,SP54575,SP54652,SP55433,SP55465,SP55514,SP55558,SP55750,SP55851,SP56042,SP56246,SP56832,SP57163,SP57197,SP57873,SP58206,SP58299 nsv885477 6 32653794 32657541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504225 S 6533 1 0 HLA-DRB1 SP52308 dgv6769n71 6 32653794 32660394 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885479,nsv885478,nsv885480 M 6533 3 0 HLA-DRB1 SP52058,SP55729,SP56846 dgv1027n67 6 32653924 32654653 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823583,nsv823582 M 31 0 3 HLA-DRB1 AK12,NA18526,NA18582 nsv348855 6 32655565 32655887 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367433 M 24 HLA-DRB1 dgv6770n71 6 32656281 32677665 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885504,nsv885494 M 6533 86 6 HLA-DRB1 IS30295,IS30459,IS33129,IS33508,IS33592,IS34019,IS35190,IS35763,IS35908,IS35993,IS37546,IS37987,IS38208,IS38290,IS38438,IS38444,IS38567,IS39355,IS39394,IS39780,IS39817,IS40003,IS41576,IS41870,IS41981,IS41992,MS10381,MS10433,MS10443,MS10778,MS11312,MS11389,MS11616,MS11858,MS13548,MS14295,MS14544,MS14923,MS14947,MS15084,MS16214,MS16621,MS16667,MS16699,MS16728,MS17097,MS17703,MS17773,MS17915,MS18288,MS18682,MS19630,MS21758,MS21780,MS22321,MS22756,MS23702,MS24390,MS24508,MS24678,MS24692,MS24798,MS24808,MS25052,MS25734,MS26033,SP50633,SP50749,SP52318,SP52913,SP53293,SP53441,SP53550,SP53685,SP54048,SP54112,SP54957,SP55084,SP56367,SP56840,SP57160,SP57670,SP58306,SP58318,SP58443,SP81092,SP81160,SP81251,SP81260,SP81265,SP81364,SP81495 nsv885495 6 32656281 32698700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542813 S 6533 1 0 HLA-DRB1 MS15907 nsv885496 6 32656612 32666924 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516169,nssv1508537,nssv1516683,nssv1516746,nssv1509252,nssv1500518,nssv1511849,nssv1503050,nssv1514995,nssv1502561,nssv1501281,nssv1508994,nssv1502958,nssv1508903 M 6533 12 2 HLA-DRB1 SP50532,SP50877,SP51254,SP51460,SP51481,SP54680,SP54684,SP54734,SP54769,SP55125,SP56107,SP56505,SP56890,SP56926 dgv6771n71 6 32656612 32677665 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885498,nsv885502 M 6533 7 0 HLA-DRB1 MS20784,MS22728,MS24812,SP52064,SP52772,SP53883,SP56349 nsv823584 6 32656880 32668303 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438865 S 31 0 1 HLA-DRB1 NA18973 nsv823585 6 32657046 32657961 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432087,nssv1428313 M 31 0 2 HLA-DRB1 AK10,AK20 nsv823588 6 32657404 32657961 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435898,nssv1433686,nssv1429095 M 31 0 3 HLA-DRB1 AK12,NA18526,NA18566 nsv823589 6 32657404 32659435 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425014 S 31 0 1 HLA-DRB1 AK2 nsv885501 6 32660003 32674134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516472 S 6533 1 0 HLA-DRB1 SP56842 nsv823590 6 32660138 32664719 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429097 S 31 0 1 HLA-DRB1 AK12 nsv885503 6 32660394 32674134 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514189,nssv1518046 M 6533 1 1 HLA-DRB1 SP55970,SP57449 nsv823591 6 32660855 32667121 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440284 S 31 0 1 HLA-DRB1 NA18547 esv1128844 6 32662978 32662978 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651264 S 2 1 0 HLA-DRB1 HuRef nsv885505 6 32663637 32674134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513617,nssv1512510 M 6533 0 2 HLA-DRB1 SP55548,SP55807 esv1977379 6 32667860 32668461 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524603 S 1 0 1 "" NA18507 dgv1028n67 6 32667923 32668429 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823592,nsv823593 M 31 0 3 "" NA18570,NA18942,NA18951 esv2471796 6 32668899 32672710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383837 S 1 0 1 "" NA18507 nsv885506 6 32669312 32681607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517408 S 6533 0 1 "" SP57270 dgv1029n67 6 32669720 32673195 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823595,nsv823594 M 31 0 15 "" AK10,AK12,AK2,NA18526,NA18537,NA18542,NA18566,NA18570,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18973 esv2158888 6 32669740 32672778 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865699 S 1 0 1 "" NA18507 esv2421463 6 32669797 32705194 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055041,essv5039994,essv5137775,essv5109109,essv5060849,essv5158269,essv5111277,essv5065647,essv5110347,essv5076460,essv5111849,essv5091585,essv5084138,essv5082866,essv5154415,essv5067533,essv5089968,essv5091944,essv5136829,essv5013330,essv5116706,essv5123934,essv5116256,essv5107586,essv5039556,essv5076725,essv5100346,essv5113204,essv5101327,essv5100310,essv5144040,essv5035715,essv5154767,essv5094620,essv5114447,essv5150666,essv5025518,essv5032996,essv5051758,essv5097296,essv5142174,essv5039871,essv5024757,essv5108449,essv5110828,essv5004551,essv5027168,essv5092599,essv5095907,essv5135051,essv5003028,essv5117828,essv5066385,essv5028075,essv5158458,essv5042157,essv5138930,essv5075550,essv5133832,essv5065804,essv5040710,essv5098511,essv5160452,essv5161137,essv5074319,essv5057001,essv5022121,essv5020328,essv5131257,essv5134006,essv5140274,essv5108245,essv5005553,essv5084839,essv5160549,essv5127936,essv5023330,essv5129427,essv5078800,essv5137200,essv5046867,essv5063981,essv5084456,essv5006141,essv5096111,essv5103926,essv5016018,essv5015623,essv5032894,essv5151072,essv5076753,essv5057230,essv5038954,essv5013178,essv5006232,essv5095270,essv5081301,essv5042606,essv5113169,essv5043710,essv5033480,essv5144047,essv5104894,essv5054087,essv5081963,essv5149363,essv5062573,essv5006309,essv5158629,essv5049825,essv5026252,essv5141126,essv5057313,essv5062040,essv5062184,essv5085847,essv5129678,essv5091640,essv5084250,essv5092167,essv5062312,essv5127384,essv5035487,essv5129199,essv5011834,essv5118042,essv5011851,essv5025778,essv5064887,essv5118545,essv5109449,essv5131796,essv5018624,essv5032581,essv5027500,essv5103637,essv5047445,essv5073879,essv5144490,essv5028565,essv5004208,essv5116715,essv5033250,essv5084729,essv5075140,essv5117374,essv5111304,essv5093122,essv5081605,essv5087144,essv5063405,essv5036075,essv5045011,essv5115904,essv5126188,essv5158895,essv5036147,essv5082569,essv5055049,essv5093854,essv5019071,essv5083047,essv5125806,essv5053444,essv5049601,essv5160643,essv5108438,essv5011687,essv5147103,essv5160293,essv5147059,essv5049778,essv5008918,essv5131436,essv5154505,essv5150311,essv5052024,essv5125854,essv5084393,essv5150136,essv5022181,essv5153383,essv5121450,essv5138362,essv5084673,essv5033155,essv5108816,essv5073041,essv5111256,essv5040463,essv5081585,essv5025727,essv5039669,essv5137687,essv5055436,essv5096976,essv5151098,essv5093315,essv5045762,essv5071588,essv5044275,essv5019242,essv5032715,essv5082230,essv5075815,essv5072827,essv5077517,essv5080180,essv5081098,essv5064978,essv5018592,essv5003165,essv5037178,essv5083065,essv5038574,essv5139674,essv5019556,essv5002748,essv5063421,essv5085686,essv5082288,essv5078336,essv5081230,essv5144012,essv5085225,essv5118101,essv5075958,essv5060234,essv5002676,essv5157880,essv5034755,essv5096558,essv5016915,essv5078097,essv5014677,essv5038188,essv5141554,essv5109333,essv5072579,essv5011908,essv5037671,essv5023448,essv5010756,essv5125002,essv5143759,essv5003027,essv5156258,essv5151041,essv5068553,essv5071092,essv5112560,essv5112561,essv5026754,essv5014540,essv5087964,essv5049624,essv5111211,essv5148415,essv5102049,essv5148386,essv5156217,essv5036657,essv5058757,essv5157831,essv5147760,essv5067588,essv5015311,essv5094964,essv5068217,essv5106684,essv5080900,essv5149856,essv5038416,essv5034393,essv5025873,essv5004105,essv5056880,essv5148036,essv5029076,essv5097129,essv5002229,essv5008664,essv5011265,essv5086487,essv5038424,essv5149794,essv5129192,essv5014045,essv5035713,essv5148961,essv5055832,essv5008693,essv5135812,essv5092321,essv5042668,essv5055967,essv5098631,essv5078951,essv5030931,essv5152366,essv5044757,essv5045494,essv5126634,essv5051766,essv5025661,essv5143078,essv5042865,essv5149654,essv5121916,essv5083806,essv5041940,essv5040893,essv5083560,essv5092299,essv5132208,essv5090889,essv5080308,essv5088608,essv5039482,essv5142730,essv5044087 M 1184 321 0 "" NA06985,NA06991,NA07014,NA07031,NA07045,NA07051,NA07055,NA07345,NA07348,NA07435,NA10836,NA10838,NA10839,NA10845,NA10859,NA10864,NA11831,NA11832,NA11839,NA11881,NA11882,NA11894,NA11917,NA11918,NA11930,NA11931,NA11993,NA11995,NA12003,NA12005,NA12006,NA12044,NA12056,NA12145,NA12146,NA12248,NA12275,NA12335,NA12340,NA12375,NA12413,NA12750,NA12752,NA12761,NA12763,NA12814,NA12818,NA12829,NA12832,NA12843,NA12864,NA12865,NA12873,NA12874,NA12875,NA12889,NA12891,NA17965,NA17967,NA17968,NA17974,NA17982,NA17988,NA17999,NA18101,NA18109,NA18112,NA18118,NA18120,NA18122,NA18131,NA18132,NA18135,NA18141,NA18146,NA18153,NA18154,NA18157,NA18159,NA18161,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18499,NA18505,NA18510,NA18518,NA18519,NA18520,NA18536,NA18537,NA18543,NA18544,NA18550,NA18558,NA18579,NA18592,NA18595,NA18605,NA18610,NA18611,NA18612,NA18619,NA18624,NA18636,NA18642,NA18674,NA18682,NA18689,NA18696,NA18740,NA18747,NA18748,NA18757,NA18867,NA18868,NA18869,NA18871,NA18872,NA18873,NA18923,NA18934,NA18939,NA18940,NA18947,NA18954,NA18955,NA18956,NA18957,NA18959,NA18962,NA18964,NA18966,NA18968,NA18969,NA18972,NA18974,NA18979,NA18981,NA18991,NA18998,NA19001,NA19005,NA19009,NA19038,NA19044,NA19056,NA19059,NA19065,NA19066,NA19070,NA19074,NA19075,NA19081,NA19085,NA19093,NA19099,NA19102,NA19103,NA19107,NA19109,NA19114,NA19117,NA19137,NA19138,NA19139,NA19140,NA19150,NA19172,NA19175,NA19176,NA19179,NA19184,NA19192,NA19213,NA19215,NA19224,NA19226,NA19236,NA19237,NA19238,NA19240,NA19247,NA19256,NA19258,NA19307,NA19308,NA19310,NA19311,NA19313,NA19314,NA19318,NA19321,NA19346,NA19347,NA19352,NA19359,NA19384,NA19385,NA19394,NA19396,NA19397,NA19399,NA19403,NA19429,NA19434,NA19438,NA19439,NA19451,NA19456,NA19469,NA19625,NA19649,NA19664,NA19665,NA19679,NA19680,NA19722,NA19723,NA19725,NA19727,NA19750,NA19760,NA19771,NA19772,NA19777,NA19789,NA19795,NA19900,NA19902,NA19904,NA19908,NA20276,NA20289,NA20290,NA20291,NA20292,NA20295,NA20317,NA20322,NA20350,NA20505,NA20512,NA20515,NA20518,NA20527,NA20539,NA20541,NA20759,NA20771,NA20774,NA20778,NA20785,NA20787,NA20796,NA20806,NA20807,NA20808,NA20810,NA20812,NA20813,NA20815,NA20850,NA20853,NA20854,NA20856,NA20858,NA20870,NA20871,NA20873,NA20876,NA20879,NA20881,NA20882,NA20884,NA20885,NA20889,NA20890,NA20892,NA20896,NA20898,NA20900,NA20902,NA20904,NA20906,NA20908,NA21088,NA21089,NA21090,NA21094,NA21099,NA21100,NA21103,NA21105,NA21106,NA21111,NA21116,NA21117,NA21118,NA21125,NA21137,NA21141,NA21307,NA21308,NA21309,NA21357,NA21365,NA21368,NA21381,NA21414,NA21451,NA21473,NA21517,NA21519,NA21523,NA21525,NA21578,NA21689 esv5278 6 32669898 32672666 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27719 S 1 0 1 Single Asian sample YH "" YH nsv511872 6 32669899 32672907 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624404 S 1 0 1 "" 1 esv6215 6 32669931 32672627 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28656 S 1 0 1 "" SJK esv1086010 6 32669943 32672596 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061848 S 2 0 1 "" HuRef nsv885507 6 32672762 32689560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514687 S 6533 0 1 "" SP56047 nsv823596 6 32677602 32678937 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426828 S 31 1 0 "" NA18947 nsv462878 6 32677669 32698903 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538949 S 1557 0 1 "" 1782681247_A dgv749n27 6 32677669 32710408 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462879,nsv462880 M 1557 0 2 "" 1798860210_A,HGDP00086 nsv462881 6 32677669 32735692 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538952 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HLA-DQA1,HLA-DQB1 HGDP00066 esv2324781 6 32679137 32679750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651602 S 1 0 1 "" NA18507 esv1456262 6 32679326 32679613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665323 S 2 0 1 "" HuRef nsv823597 6 32679453 32680184 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433688 S 31 0 1 "" NA18526 nsv517109 6 32681003 32688681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675423,nssv686300,nssv653799,nssv687232,nssv696064 M 2026 0 5 "" nsv823599 6 32682520 32683512 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428315 S 31 0 1 "" AK10 nsv885508 6 32685358 32765312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553073 S 6533 0 1 HLA-DQA1,HLA-DQB1 MS19721 dgv750n27 6 32686030 32763196 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462885,nsv462883 M 1557 0 2 HLA-DQA1,HLA-DQB1 HGDP00546,HGDP00737 nsv830632 6 32689826 32876613 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445370 S 95 0 1 HLA-DQA1,HLA-DQA2,HLA-DQB1,HLA-DQB2 dgv6772n71 6 32691720 32747141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885524,nsv885522,nsv885510,nsv885509 M 6533 0 5 HLA-DQA1,HLA-DQB1 IS34599,IS41317,MS17130,MS18554,MS22104 nsv823600 6 32694473 32695070 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426841 S 31 1 0 "" NA18947 esv268719 6 32697508 32703547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558048,essv2571793,essv2542441,essv2552575,essv2537146,essv2569770,essv2563033,essv2563890,essv2543705,essv2539320,essv2566533,essv2538528,essv2568694,essv2560495,essv2536087 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA11840,NA11919,NA18502,NA18517,NA18520,NA18532,NA18603,NA18870,NA18912,NA18948,NA19108,NA19147,NA19190 esv267981 6 32697781 32697975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542249,essv2544215,essv2570912,essv2523324,essv2577284,essv2521516,essv2552019,essv2520645,essv2529140,essv2576323,essv2564240,essv2537689,essv2546652,essv2551872,essv2527932,essv2534033,essv2566652,essv2524026,essv2554586,essv2563387 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA11919,NA11992,NA11993,NA12004,NA12043,NA12144,NA12489,NA12716,NA12749,NA12814,NA12828,NA12878,NA12892,NA18504,NA18907,NA18916,NA18948,NA19129 esv272737 6 32697783 32697921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584346,essv2584484,essv2583713 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv885511 6 32698968 32707977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517247,nssv1503501,nssv1505728 M 6533 3 0 "" SP52064,SP53883,SP57226 esv1009463 6 32699750 32702304 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586417 S 3 0 1 "" HuRef esv1947663 6 32700245 32700632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948085 S 1 0 1 "" NA18507 esv2421999 6 32700963 32722015 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158436,essv5091570,essv5057964,essv5141354,essv5146443,essv5023821,essv5066830,essv5111420,essv5010775,essv5010988,essv5082304,essv5129315,essv5062380,essv5138116,essv5155248,essv5059038,essv5010910,essv5054391,essv5090770,essv5071728,essv5058531,essv5128015,essv5079349,essv5069673,essv5085864,essv5005598,essv5097367,essv5137945,essv5084758,essv5035264,essv5071942,essv5029740,essv5057406,essv5153263,essv5049270,essv5091261,essv5097466,essv5145896,essv5119665,essv5056106,essv5098017,essv5130422,essv5042792,essv5064071,essv5059468,essv5081025,essv5150034,essv5002277,essv5025751,essv5127387,essv5157713,essv5114929,essv5102893,essv5104862,essv5119940,essv5103050,essv5019346,essv5142242,essv5004200,essv5144967,essv5157594,essv5028483,essv5055005,essv5125109,essv5032646,essv5035281,essv5137351,essv5153075,essv5121412,essv5137969,essv5026597,essv5143977,essv5141519,essv5118312,essv5135538,essv5021755,essv5044543,essv5087031,essv5028773,essv5068664,essv5026825,essv5116257,essv5088660,essv5098869,essv5137155,essv5006745,essv5146512,essv5082827,essv5052134,essv5115398,essv5108169,essv5051822,essv5112099,essv5018781,essv5043611,essv5043841,essv5085307,essv5036057,essv5062887,essv5077724,essv5159289,essv5099156,essv5128355,essv5103493,essv5068086,essv5018729,essv5025073,essv5008403,essv5049985,essv5100366,essv5114811,essv5160327,essv5029092,essv5114454,essv5095311,essv5102894,essv5123143,essv5017889,essv5115227,essv5020911,essv5126614,essv5134755,essv5051661,essv5069304,essv5154341,essv5074698,essv5046667,essv5151562,essv5051175,essv5075841,essv5117643,essv5155301,essv5011506,essv5080426,essv5104883,essv5091564,essv5061763,essv5065954,essv5099677,essv5033516,essv5069351,essv5020572,essv5152609,essv5147647,essv5111989,essv5041733,essv5029390,essv5049441,essv5065904,essv5037062,essv5030862,essv5069297,essv5079869,essv5122372,essv5076177,essv5065805,essv5041362,essv5094926,essv5090255,essv5006525,essv5049241,essv5034698,essv5104587,essv5083790,essv5066897,essv5093879,essv5110863,essv5106648,essv5076778,essv5121347,essv5018338,essv5106148,essv5031163,essv5018115,essv5093205,essv5144860,essv5051431,essv5053315,essv5117925,essv5145502,essv5117087,essv5022951,essv5115400,essv5023879,essv5104015,essv5137324,essv5004218,essv5047052,essv5147944,essv5123871,essv5016587,essv5032008,essv5119765,essv5021969,essv5121611,essv5077018,essv5157569,essv5007221,essv5114268,essv5011678,essv5024077,essv5087697,essv5014667,essv5128961,essv5029699,essv5067735,essv5131790,essv5105257,essv5051726,essv5027114,essv5099220,essv5144009,essv5051108,essv5013095,essv5075739,essv5102936,essv5055415,essv5081107,essv5023395,essv5025672,essv5056637,essv5018995,essv5138640,essv5055718,essv5058250,essv5059048,essv5003747,essv5109529,essv5078928,essv5119829,essv5088791,essv5066376,essv5019570,essv5066217,essv5067115,essv5024502,essv5113415,essv5110098,essv5120588,essv5072068,essv5054339,essv5016976,essv5055195,essv5121534,essv5033637,essv5138896,essv5129349,essv5121004,essv5066805,essv5023579,essv5007053,essv5127903,essv5155856,essv5157100,essv5047322,essv5094915,essv5070340,essv5131216,essv5069132,essv5083374,essv5034981,essv5031650,essv5112398,essv5104137,essv5089496,essv5101090,essv5048840,essv5158576,essv5078277,essv5083994,essv5090778,essv5157276,essv5080988,essv5107152,essv5139657,essv5113897,essv5145029,essv5004835,essv5076577,essv5030737,essv5019274,essv5024072,essv5078970,essv5084783,essv5020181,essv5071965,essv5090871,essv5016056,essv5085100,essv5139963,essv5062497,essv5046049,essv5080113,essv5130561,essv5031089,essv5147813,essv5100582,essv5045880,essv5005779,essv5107554,essv5122543,essv5140729,essv5157497,essv5092876,essv5031971,essv5103111,essv5016040,essv5049228,essv5110774,essv5114919,essv5117500,essv5099239,essv5134448,essv5070593,essv5138337,essv5043480,essv5032718,essv5015880,essv5017134,essv5159026,essv5150347,essv5046846,essv5129015,essv5146429,essv5073382,essv5142980,essv5117973,essv5094947,essv5088209,essv5014006,essv5002926,essv5040811,essv5071139,essv5110119,essv5048637,essv5135551,essv5138652,essv5060954,essv5136167,essv5075413,essv5124847,essv5079634,essv5108718,essv5110708,essv5026396,essv5024858,essv5017137,essv5141176,essv5128712,essv5061078,essv5027723,essv5074163,essv5015517,essv5099031,essv5135587,essv5095700,essv5122594,essv5022587,essv5131891,essv5013669,essv5060927,essv5028332,essv5039190,essv5150876,essv5138061,essv5088200,essv5078283,essv5037584,essv5123013,essv5143789,essv5054537,essv5079998,essv5037006,essv5023561,essv5149469,essv5145340,essv5084072,essv5083729,essv5070536,essv5122946,essv5141286,essv5110398,essv5029365,essv5002059,essv5097855,essv5100811,essv5059754,essv5041474,essv5078476,essv5137887,essv5138335,essv5134149,essv5155407,essv5146552,essv5093574,essv5025985,essv5088196,essv5033608,essv5084980,essv5078297,essv5159182,essv5014016,essv5028696,essv5019561,essv5083043,essv5004697,essv5131903,essv5144264,essv5018299,essv5032108,essv5119178,essv5063372,essv5065526,essv5071061,essv5132896,essv5139102,essv5052622,essv5109076,essv5077428,essv5082522,essv5105042,essv5116784,essv5053323,essv5002135,essv5101178,essv5010476,essv5143698,essv5068916,essv5083492,essv5137292,essv5097571,essv5075164,essv5098722,essv5023468,essv5100295,essv5137316,essv5049551,essv5134717,essv5043692,essv5026582,essv5021880,essv5054524,essv5086549,essv5111403,essv5155417,essv5086763,essv5031251,essv5078706,essv5134705,essv5083018,essv5037005,essv5041426,essv5006854,essv5126539,essv5090408,essv5077151,essv5005129,essv5084514,essv5007380,essv5030745,essv5023193,essv5107102,essv5133048,essv5032134,essv5082306,essv5026938,essv5038305,essv5049895,essv5112569,essv5054462,essv5115419,essv5052125,essv5035207,essv5070265,essv5017506,essv5145810,essv5019582,essv5123667,essv5035148,essv5016287,essv5113338,essv5152234,essv5093677,essv5108425,essv5154215,essv5008255,essv5028993,essv5051274,essv5141104,essv5141297,essv5087658,essv5032075,essv5043540,essv5098040,essv5126760,essv5070598,essv5130849,essv5111704,essv5113803,essv5013013,essv5076612,essv5073890,essv5071873,essv5024451,essv5017567,essv5046845,essv5124374,essv5042337,essv5104879,essv5058711,essv5002247,essv5108239,essv5071218,essv5063263,essv5154935,essv5142906,essv5002867,essv5064827,essv5051804,essv5088474,essv5086347,essv5022362,essv5047189,essv5096310,essv5145282,essv5092473,essv5117834,essv5014748,essv5074470,essv5043426,essv5059787,essv5128606,essv5019704,essv5099813,essv5126755,essv5081413,essv5151644,essv5088228,essv5084599,essv5080983,essv5102579,essv5084650,essv5098250,essv5121774,essv5094141,essv5017761,essv5104559,essv5093984,essv5109867,essv5079498,essv5100352,essv5074816,essv5083433,essv5075789,essv5050958,essv5064897,essv5027167,essv5096007,essv5027951,essv5102692,essv5028576,essv5004525,essv5006156,essv5072149,essv5159735,essv5137932,essv5019006,essv5153005,essv5017457,essv5007163,essv5025966,essv5101422,essv5019889,essv5045167,essv5021159,essv5151752,essv5126330,essv5102709,essv5006961,essv5123969,essv5048463,essv5066153,essv5007669,essv5002253,essv5062431,essv5045020,essv5037363,essv5037778,essv5047209,essv5110167,essv5056709,essv5141226,essv5056989,essv5142076,essv5159456,essv5018003,essv5150692,essv5092590,essv5008467,essv5010648,essv5131234,essv5152043,essv5021558,essv5105380,essv5090366,essv5116378,essv5088498,essv5003207,essv5012082,essv5071194,essv5118738,essv5098626,essv5061920,essv5116572,essv5138745,essv5150147,essv5147424,essv5013618,essv5004454,essv5112495,essv5135239,essv5050708,essv5066887,essv5063624,essv5113125 M 1184 352 273 HLA-DQA1 NA06984,NA06985,NA06986,NA06991,NA06993,NA06995,NA06997,NA07000,NA07014,NA07022,NA07045,NA07051,NA07345,NA07347,NA07348,NA10830,NA10837,NA10838,NA10839,NA10840,NA10852,NA10853,NA10854,NA10855,NA10859,NA10864,NA11829,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11918,NA11930,NA11992,NA11994,NA12003,NA12005,NA12006,NA12045,NA12056,NA12156,NA12248,NA12264,NA12272,NA12273,NA12282,NA12286,NA12287,NA12335,NA12336,NA12341,NA12343,NA12344,NA12376,NA12383,NA12399,NA12400,NA12413,NA12546,NA12707,NA12716,NA12718,NA12748,NA12750,NA12752,NA12760,NA12762,NA12767,NA12777,NA12778,NA12813,NA12827,NA12830,NA12842,NA12865,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12892,NA17965,NA17966,NA17967,NA17968,NA17970,NA17972,NA17976,NA17977,NA17982,NA17989,NA17990,NA17995,NA17998,NA18101,NA18102,NA18105,NA18108,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18141,NA18143,NA18146,NA18147,NA18148,NA18149,NA18151,NA18153,NA18154,NA18155,NA18156,NA18158,NA18160,NA18161,NA18166,NA18485,NA18487,NA18489,NA18498,NA18501,NA18503,NA18504,NA18507,NA18508,NA18509,NA18515,NA18516,NA18520,NA18532,NA18537,NA18543,NA18545,NA18550,NA18552,NA18558,NA18559,NA18562,NA18564,NA18566,NA18571,NA18572,NA18573,NA18577,NA18595,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18613,NA18616,NA18618,NA18619,NA18622,NA18623,NA18624,NA18630,NA18635,NA18636,NA18637,NA18638,NA18645,NA18670,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18749,NA18757,NA18852,NA18854,NA18855,NA18857,NA18858,NA18860,NA18862,NA18863,NA18867,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18916,NA18923,NA18930,NA18939,NA18940,NA18944,NA18947,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18972,NA18973,NA18974,NA18976,NA18977,NA18979,NA18987,NA18991,NA18993,NA18995,NA18997,NA18998,NA18999,NA19002,NA19009,NA19010,NA19035,NA19038,NA19041,NA19046,NA19054,NA19057,NA19059,NA19060,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19078,NA19081,NA19083,NA19086,NA19094,NA19095,NA19096,NA19099,NA19102,NA19107,NA19108,NA19109,NA19114,NA19117,NA19122,NA19128,NA19129,NA19132,NA19140,NA19141,NA19143,NA19144,NA19146,NA19148,NA19154,NA19161,NA19171,NA19172,NA19175,NA19176,NA19179,NA19189,NA19192,NA19194,NA19197,NA19198,NA19199,NA19200,NA19202,NA19203,NA19204,NA19206,NA19207,NA19210,NA19213,NA19215,NA19222,NA19224,NA19235,NA19238,NA19239,NA19249,NA19256,NA19310,NA19315,NA19316,NA19317,NA19318,NA19319,NA19327,NA19346,NA19347,NA19350,NA19352,NA19360,NA19371,NA19372,NA19375,NA19376,NA19377,NA19382,NA19390,NA19393,NA19394,NA19403,NA19429,NA19430,NA19436,NA19437,NA19439,NA19443,NA19446,NA19451,NA19452,NA19455,NA19463,NA19466,NA19468,NA19470,NA19472,NA19473,NA19474,NA19651,NA19652,NA19656,NA19657,NA19659,NA19663,NA19671,NA19677,NA19678,NA19679,NA19681,NA19682,NA19683,NA19685,NA19686,NA19700,NA19703,NA19704,NA19705,NA19714,NA19716,NA19719,NA19720,NA19722,NA19724,NA19726,NA19727,NA19750,NA19755,NA19756,NA19757,NA19760,NA19763,NA19771,NA19772,NA19773,NA19775,NA19778,NA19780,NA19782,NA19784,NA19788,NA19794,NA19818,NA19819,NA19828,NA19836,NA19901,NA19904,NA19908,NA19909,NA19918,NA19919,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20277,NA20279,NA20281,NA20289,NA20290,NA20302,NA20319,NA20332,NA20334,NA20335,NA20340,NA20342,NA20344,NA20345,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20502,NA20505,NA20506,NA20509,NA20510,NA20516,NA20518,NA20520,NA20522,NA20524,NA20525,NA20529,NA20530,NA20538,NA20542,NA20543,NA20544,NA20582,NA20586,NA20588,NA20589,NA20754,NA20755,NA20757,NA20758,NA20760,NA20761,NA20765,NA20766,NA20772,NA20787,NA20790,NA20792,NA20795,NA20797,NA20799,NA20800,NA20805,NA20806,NA20808,NA20812,NA20813,NA20816,NA20818,NA20819,NA20846,NA20847,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20859,NA20861,NA20862,NA20873,NA20874,NA20875,NA20881,NA20884,NA20887,NA20891,NA20892,NA20899,NA20900,NA20902,NA20907,NA20908,NA20909,NA20911,NA21086,NA21088,NA21089,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21102,NA21103,NA21104,NA21106,NA21108,NA21109,NA21112,NA21113,NA21115,NA21117,NA21118,NA21119,NA21125,NA21137,NA21141,NA21142,NA21295,NA21302,NA21303,NA21307,NA21312,NA21316,NA21317,NA21318,NA21333,NA21339,NA21353,NA21355,NA21357,NA21359,NA21363,NA21364,NA21367,NA21371,NA21379,NA21382,NA21383,NA21384,NA21386,NA21387,NA21389,NA21391,NA21399,NA21400,NA21401,NA21402,NA21404,NA21408,NA21417,NA21418,NA21420,NA21424,NA21434,NA21436,NA21438,NA21442,NA21448,NA21451,NA21457,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21487,NA21488,NA21489,NA21490,NA21491,NA21509,NA21510,NA21512,NA21513,NA21514,NA21521,NA21522,NA21524,NA21526,NA21573,NA21574,NA21575,NA21577,NA21580,NA21582,NA21583,NA21587,NA21597,NA21600,NA21601,NA21615,NA21617,NA21631,NA21632,NA21634,NA21647,NA21650,NA21682,NA21683,NA21685,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21739,NA21741,NA21768,NA21784,NA21826 nsv442979 6 32700999 32710085 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1030n67 6 32701482 32710288 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823604,nsv823606,nsv823605,nsv823601,nsv823603 M 31 0 8 "" AK10,AK14,AK20,NA18547,NA18566,NA18592,NA18969,NA18973 dgv1031n67 6 32701482 32715865 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823602,nsv823607 M 31 0 2 HLA-DQA1 NA18526,NA18951 esv1954986 6 32701516 32702144 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719835 S 1 0 1 "" NA18507 esv3705 6 32701618 32702073 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26146 S 1 0 1 Single Asian sample YH "" YH dgv6773n71 6 32702081 32735692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885520,nsv885514,nsv885515,nsv885521,nsv885519,nsv885518,nsv885513,nsv885512 M 6533 0 11 HLA-DQA1,HLA-DQB1 IS30923,IS31282,IS40157,MS11019,MS13795,MS15779,MS18174,MS19119,MS22930,MS26119,SP81181 nsv819191 6 32702309 32711078 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418553 S 2 0 1 "" AK1 dgv6774n71 6 32703020 32718278 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885527,nsv885516 M 6533 0 11 HLA-DQA1 IS30317,MS10682,MS13461,MS13703,MS15398,MS15589,MS15767,MS18947,MS20725,MS25579,MS25864 nsv885517 6 32703020 32723688 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540049 S 6533 0 1 HLA-DQA1 MS14676 dgv6775n71 6 32703020 32743927 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885523,nsv885569,nsv885588 M 6533 3 0 HLA-DQA1,HLA-DQB1 MS21180,SP52019,SP56289 dgv6776n71 6 32703020 32771542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885525,nsv885556,nsv885555,nsv885554,nsv885553,nsv885562,nsv885572,nsv885573,nsv885526,nsv885552 M 6533 0 15 HLA-DQA1,HLA-DQB1 IS31576,IS31904,MS10123,MS10445,MS13228,MS15515,MS16039,MS16531,MS17359,MS17572,MS17697,MS18276,MS20020,MS21182,MS23257 dgv6777n71 6 32705962 32735692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885560,nsv885538,nsv885529,nsv885568,nsv885545,nsv885537,nsv885561,nsv885559,nsv885547,nsv885546,nsv885530,nsv885528 M 6533 0 19 HLA-DQA1,HLA-DQB1 IS31656,IS41901,MS11556,MS13206,MS15508,MS15704,MS16902,MS20361,MS21214,MS23071,MS23123,MS23295,MS23579,SP50128,SP52574,SP52723,SP55856,SP56762,SP81157 nsv515037 6 32707224 32709476 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627040 S 1414 0 0 "" esv1003385 6 32708569 32765500 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586054 S 3 1 0 HLA-DQA1,HLA-DQB1 HuRef dgv6778n71 6 32708781 32719619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885557,nsv885531 M 6533 0 4 HLA-DQA1 SP50942,SP51167,SP54078,SP56213 dgv6779n71 6 32708781 32723928 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885541,nsv885533,nsv885532,nsv885534 M 6533 0 16 HLA-DQA1 IS35800,IS41769,MS11049,MS16206,MS17221,MS18247,MS18368,MS19356,MS24101,MS24419,MS24867,MS25756,MS25765,MS25774,MS25831,MS25950 dgv6780n71 6 32708781 32728261 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885581,nsv885535,nsv885565 M 6533 10 14 HLA-DQA1 MS11497,MS16283,MS19438,MS19858,MS20671,MS20925,MS22848,SP50038,SP50954,SP51019,SP51481,SP51485,SP52109,SP52117,SP54383,SP54477,SP54585,SP54665,SP55684,SP55694,SP55747,SP56238,SP57401,SP57856 dgv6781n71 6 32708781 32732638 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885544,nsv885566,nsv885582,nsv885583,nsv885536,nsv885567 M 6533 33 44 HLA-DQA1 IS31335,IS32737,IS33726,IS33863,IS34141,IS37689,IS38208,IS39363,IS40237,IS41724,MS10686,MS11119,MS11451,MS11494,MS11525,MS12092,MS13219,MS13330,MS13451,MS13771,MS14216,MS14451,MS15097,MS15397,MS16707,MS17085,MS18588,MS19556,MS20828,MS21216,MS21465,MS22465,MS23983,MS24447,MS24704,MS25112,MS25303,MS25519,SP50080,SP50134,SP50144,SP50535,SP50629,SP50876,SP50977,SP51389,SP51391,SP51419,SP52328,SP52721,SP53724,SP53876,SP54407,SP54620,SP54682,SP54930,SP55064,SP55352,SP55470,SP55649,SP55878,SP55986,SP56013,SP56085,SP56116,SP56143,SP56426,SP56533,SP56543,SP57044,SP57138,SP57329,SP57665,SP58031,SP80994,SP81156,SP81571 dgv6782n71 6 32708781 32747141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885548,nsv885551,nsv885587,nsv885540,nsv885589,nsv885549,nsv885570,nsv885539,nsv885550 M 6533 0 13 HLA-DQA1,HLA-DQB1 IS33797,IS38391,IS39716,IS41113,MS11821,MS12103,MS12406,MS12771,MS12860,MS20632,MS21491,MS24103,SP54166 dgv6783n71 6 32709753 32728600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885543,nsv885542 M 6533 0 3 HLA-DQA1 IS34185,IS38185,MS12045 nsv525222 6 32710408 32763196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701309 S 2026 0 1 HLA-DQA1,HLA-DQB1 nsv885558 6 32710460 32728600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560704 S 6533 1 0 HLA-DQA1 MS24662 dgv1032n67 6 32711487 32733907 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823617,nsv823608,nsv823613,nsv823618,nsv823610,nsv823619 M 31 0 7 HLA-DQA1 AK10,AK2,NA18552,NA18582,NA18949,NA18969,NA18973 dgv1033n67 6 32711487 32744394 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823621,nsv823611 M 31 0 2 HLA-DQA1,HLA-DQB1 AK14,NA18592 dgv1034n67 6 32711487 32762815 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823616,nsv823612 M 31 0 2 HLA-DQA1,HLA-DQB1 NA18547,NA18566 esv32765 6 32711716 32763337 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101168,essv93799,essv100832,essv101010,essv95093,essv98182,essv94678,essv101306,essv97878,essv95441,essv97289,essv94477,essv92849,essv95955,essv99629,essv98106,essv96528,essv99286,essv97662,essv100164 M 51 20 0 HLA-DQA1,HLA-DQB1 21618,21634,21656,21693,21721,21772,21791,21805,21837,21847,21879,21932,21939,22127,22217,22259,22261,22275,22278,22286 dgv6784n71 6 32711738 32720605 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885563,nsv885578,nsv885577 M 6533 3 0 HLA-DQA1 SP50077,SP51082,SP55765 nsv885564 6 32711738 32723688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504883,nssv1503124 M 6533 2 0 HLA-DQA1 SP51486,SP52835 dgv6785n71 6 32711738 32758787 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885571,nsv885590 M 6533 0 3 HLA-DQA1,HLA-DQB1 IS33839,MS15539,MS24073 esv998922 6 32711747 32733981 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586855 S 3 1 0 HLA-DQA1 HuRef dgv1035n67 6 32711978 32713348 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823615,nsv823614 M 31 0 2 HLA-DQA1 NA18526,NA18542 dgv6786n71 6 32713167 32732852 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885602,nsv885597,nsv885605,nsv885601,nsv885574,nsv885584 M 6533 8 0 HLA-DQA1 IS38577,IS40646,SP50927,SP50940,SP51309,SP52008,SP54552,SP57328 dgv6787n71 6 32713862 32719619 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885576,nsv885575 M 6533 3 3 HLA-DQA1 SP51145,SP52590,SP54663,SP55647,SP57322,SP80930 dgv6788n71 6 32713862 32723688 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885579,nsv885580 M 6533 4 0 HLA-DQA1 SP50593,SP55748,SP56331,SP57226 dgv6789n71 6 32713862 32735692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885585,nsv885586 M 6533 0 2 HLA-DQA1,HLA-DQB1 IS31581,SP51132 nsv514351 6 32716254 32721932 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627800 S 1414 0 1 HLA-DQA1 dgv6790n71 6 32717104 32719619 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885591,nsv885593 M 6533 2 0 HLA-DQA1 SP54429,SP56710 dgv6791n71 6 32717104 32722015 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885592,nsv885595 M 6533 2 0 HLA-DQA1 SP52308,SP53883 dgv6792n71 6 32717159 32720375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885599,nsv885594 M 6533 0 2 HLA-DQA1 SP56200,SP56880 dgv6793n71 6 32717159 32723688 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885603,nsv885609,nsv885600,nsv885596 M 6533 8 0 HLA-DQA1 SP52772,SP54049,SP54774,SP54776,SP55277,SP56144,SP56834,SP57163 dgv6794n71 6 32717159 32735539 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885611,nsv885612,nsv885617,nsv885598 M 6533 6 4 HLA-DQA1,HLA-DQB1 MS16117,SP50523,SP50832,SP51115,SP51494,SP53392,SP54516,SP54753,SP54789,SP55539 esv2421710 6 32717276 32739978 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019396,essv5070880,essv5095080,essv5047520,essv5075129,essv5154409,essv5018219,essv5037632,essv5086764,essv5043130,essv5110543,essv5130546,essv5106287,essv5131182,essv5109730,essv5099155,essv5017062,essv5033709,essv5145887,essv5067026,essv5050347,essv5131669,essv5134873,essv5065847,essv5121177,essv5016069,essv5123397,essv5110316,essv5113663,essv5114890,essv5004606,essv5137444,essv5122552,essv5051330,essv5061197,essv5063415,essv5108582,essv5146476,essv5146591,essv5112705,essv5091980,essv5154762,essv5045133,essv5120949,essv5117785,essv5082849,essv5129724,essv5022632,essv5102020,essv5002793,essv5160526,essv5065585,essv5133681,essv5032078,essv5102479,essv5104518,essv5026352,essv5064000,essv5059199,essv5145170,essv5092447,essv5022649,essv5034189,essv5118243,essv5088267,essv5028277,essv5134561,essv5026917,essv5105615,essv5148381,essv5009551,essv5055642,essv5097229,essv5121912,essv5075293,essv5027410,essv5060501,essv5006547,essv5089509,essv5128174,essv5151475,essv5028054,essv5126124,essv5142077,essv5096933,essv5137908,essv5135559,essv5069569,essv5029133,essv5142956,essv5095597,essv5045874,essv5125830,essv5091247,essv5093027,essv5080219,essv5018442,essv5002062,essv5093668,essv5149392,essv5129490,essv5130084,essv5153561,essv5064054,essv5092231,essv5155986,essv5156567,essv5082111,essv5104714,essv5120463,essv5002655,essv5002895,essv5117515,essv5035639,essv5133074,essv5140787,essv5075484,essv5008929,essv5025899,essv5033109,essv5111629,essv5043235,essv5030945,essv5159764,essv5007448,essv5149253,essv5026044,essv5112065,essv5123563,essv5058653,essv5057641,essv5123487,essv5061747,essv5080863,essv5047248,essv5094094,essv5077777,essv5118238,essv5080890,essv5066369,essv5043583,essv5105055,essv5120702,essv5080842,essv5137277,essv5021937,essv5057967,essv5020290,essv5153045,essv5011924,essv5148941,essv5073914,essv5072653,essv5141075,essv5095947,essv5020220,essv5116207,essv5067236,essv5145736,essv5025197,essv5140695,essv5013257,essv5011338,essv5126002,essv5131717,essv5031247,essv5030487,essv5140845,essv5125293,essv5133153,essv5139689,essv5088634,essv5096308,essv5145716,essv5089370,essv5003289,essv5020055,essv5017568,essv5006382,essv5098070,essv5139646,essv5064611,essv5148892,essv5063654,essv5122619,essv5030200,essv5085590,essv5066143,essv5124245,essv5071838,essv5113549,essv5154871,essv5066394,essv5079250,essv5103315,essv5022650,essv5106302,essv5091222,essv5069220,essv5004921,essv5066164,essv5008121,essv5134023,essv5032145,essv5129277,essv5071185,essv5037338,essv5066478,essv5098808,essv5129074,essv5059873,essv5075648,essv5074945,essv5122081,essv5143123,essv5109704,essv5009577,essv5110312,essv5141268,essv5099920,essv5023637,essv5094257,essv5121266,essv5055934,essv5102620,essv5098573,essv5159534,essv5109617,essv5052127,essv5033716,essv5065688,essv5126627,essv5010074,essv5086325,essv5045234,essv5142662,essv5100623,essv5152963,essv5111292,essv5067443,essv5149886,essv5089399,essv5121708,essv5134894,essv5057603,essv5050330,essv5109165,essv5114461,essv5086561,essv5125666,essv5083217,essv5133049,essv5029818,essv5132808,essv5074025,essv5086569,essv5070830,essv5120641,essv5012047,essv5001918,essv5139770,essv5136174,essv5067612,essv5135177,essv5149017,essv5045862,essv5053425,essv5020557,essv5080618,essv5082891,essv5052388,essv5042180,essv5101893,essv5087720,essv5153749,essv5068379,essv5027708,essv5014511,essv5067015,essv5003402,essv5132500,essv5133205,essv5085091,essv5003544,essv5131252,essv5031694,essv5113443,essv5069469,essv5073723,essv5138934,essv5025981,essv5041291,essv5039743,essv5149351,essv5041921,essv5146637,essv5030357,essv5104263,essv5114597,essv5109644,essv5066463,essv5094434,essv5052673,essv5147960,essv5138682,essv5040881,essv5040470,essv5062913,essv5086394,essv5104135,essv5066196,essv5117934,essv5083989,essv5031387,essv5105998,essv5090434,essv5021211,essv5134943,essv5047890,essv5133674,essv5060732,essv5028173,essv5113933,essv5053909,essv5113677,essv5028195,essv5136760,essv5036795,essv5134142,essv5066923,essv5051572,essv5151295,essv5142901,essv5031201,essv5098842,essv5078325,essv5019585,essv5045676,essv5155258,essv5109623,essv5116583,essv5060318,essv5052812,essv5124290,essv5093169,essv5056490,essv5100339,essv5128690,essv5097237,essv5049693,essv5152534,essv5113124,essv5134273,essv5126988,essv5060351,essv5054758,essv5041189,essv5099096,essv5002043,essv5126294,essv5016871,essv5097698,essv5026658,essv5123865,essv5113710,essv5100689,essv5102937,essv5117128,essv5087787,essv5029320,essv5125461,essv5107808,essv5003009,essv5105590,essv5033947,essv5160677,essv5015976,essv5125753,essv5159197,essv5077984,essv5131050,essv5141382,essv5015558,essv5156670,essv5129438,essv5038898,essv5050861,essv5093083,essv5057839,essv5021547,essv5045520,essv5067254,essv5095279,essv5115589,essv5035433,essv5127747,essv5070098,essv5070753,essv5121318,essv5040360,essv5096197,essv5090400,essv5141439,essv5132702,essv5076672,essv5067317,essv5084484,essv5092113,essv5078017,essv5133900,essv5106428,essv5033197,essv5112224,essv5031840,essv5006072,essv5017897,essv5078908,essv5155749,essv5070668,essv5132672,essv5023336,essv5101007,essv5108453,essv5042896,essv5099791,essv5076276,essv5029325,essv5066102,essv5049343,essv5005590,essv5151406,essv5135013,essv5118954,essv5020510,essv5150217,essv5095392,essv5055055,essv5066260,essv5007635,essv5110915,essv5048502,essv5159052,essv5078547,essv5011286,essv5150247,essv5157115,essv5083676,essv5123779,essv5040628,essv5049267,essv5065227,essv5034481,essv5040351,essv5121142,essv5060812,essv5136956,essv5053078,essv5141472,essv5104070,essv5002286,essv5009056,essv5097893,essv5067635,essv5155014,essv5095460,essv5085685,essv5116041,essv5137377,essv5053854,essv5099852,essv5040899,essv5059899,essv5085302,essv5109486,essv5009943,essv5111477,essv5065516,essv5068841,essv5116750,essv5004408,essv5083880,essv5067293,essv5077311,essv5120637,essv5058340,essv5038644,essv5012945,essv5061390,essv5057456,essv5003212,essv5151887,essv5048925,essv5101168,essv5115441,essv5084938,essv5131915,essv5048625,essv5007573,essv5117125,essv5050421,essv5040348,essv5146248,essv5147055,essv5146276,essv5112568,essv5158109,essv5104957,essv5108124,essv5153632,essv5078681,essv5038182,essv5124183,essv5081961,essv5114174,essv5062796,essv5059660,essv5025446,essv5013028,essv5150966,essv5083259,essv5004210,essv5046299,essv5142617,essv5002487,essv5012023,essv5094515,essv5159040,essv5008412,essv5023088,essv5049650,essv5021426,essv5077420,essv5153777,essv5071015,essv5008539,essv5026114,essv5105884,essv5017501,essv5090713,essv5055219,essv5071267,essv5137805,essv5139597,essv5142768,essv5073729,essv5114131,essv5092260,essv5067833,essv5071415,essv5049086,essv5110706,essv5139568,essv5007700,essv5065549,essv5095731,essv5038401,essv5155915,essv5097526,essv5101938,essv5070926,essv5160651,essv5108241,essv5157837,essv5105616,essv5112304,essv5086681,essv5054717,essv5052322,essv5012595,essv5130808,essv5095455,essv5102956,essv5138840,essv5107027,essv5025556,essv5107752,essv5094663,essv5098422,essv5153733,essv5003898,essv5094513,essv5058990,essv5101595,essv5032506,essv5023404,essv5037885,essv5082661,essv5123973,essv5124484,essv5158293,essv5042216,essv5104146,essv5120134,essv5083558,essv5086673,essv5134138,essv5085150,essv5005323,essv5102687,essv5009952,essv5101808,essv5076878,essv5080926,essv5152802,essv5107376,essv5062633,essv5158556,essv5024736,essv5121971,essv5112938,essv5161134,essv5069737,essv5009749,essv5005216,essv5158527,essv5054419,essv5037032,essv5029503,essv5037695,essv5017046,essv5088156,essv5152803,essv5118602,essv5074297,essv5058169,essv5017179,essv5160516,essv5033454,essv5110839,essv5047145,essv5022944,essv5160334,essv5096017,essv5113716,essv5093553,essv5091419,essv5122730,essv5037051,essv5090446,essv5100407,essv5062489,essv5006362,essv5056353,essv5127614,essv5125423,essv5129759,essv5063808,essv5135678,essv5117384,essv5146067,essv5143956,essv5036308,essv5105820,essv5111590,essv5155860,essv5074952,essv5146065,essv5014641,essv5090292,essv5082793,essv5062643,essv5145592,essv5123861,essv5043447,essv5035703,essv5144561,essv5096166,essv5014301,essv5043114,essv5002228,essv5043318,essv5065366,essv5153774,essv5029179,essv5044088,essv5032851,essv5124897,essv5029823,essv5078747,essv5142963,essv5114721,essv5112552,essv5014755,essv5013665,essv5070480,essv5077710,essv5091227,essv5070002,essv5008896,essv5126675,essv5142146,essv5055550,essv5135309,essv5092031,essv5138849,essv5151715,essv5095325,essv5024977,essv5044279,essv5098178,essv5041074,essv5089516,essv5132631,essv5110785,essv5041176,essv5122439,essv5147165,essv5053930,essv5089449,essv5056379,essv5078359,essv5057435,essv5137556,essv5104815,essv5145962,essv5134343,essv5069932,essv5121515,essv5110850,essv5035360,essv5092421,essv5144597,essv5100025,essv5014910,essv5038994,essv5002284,essv5041235,essv5024045,essv5040680,essv5101478,essv5101092,essv5081224,essv5057504,essv5014990,essv5156091,essv5090420,essv5137133,essv5057392,essv5109225,essv5090144,essv5049090,essv5142244,essv5093221,essv5033032,essv5054401,essv5058863,essv5069163,essv5150233,essv5035678,essv5153873,essv5120393,essv5141648,essv5076742,essv5058127,essv5128924,essv5012139,essv5133423,essv5109049,essv5155539,essv5077421,essv5035175,essv5111407,essv5139057,essv5124377,essv5107880,essv5156941,essv5096693,essv5120335,essv5007070,essv5095094,essv5044424,essv5147284,essv5063570,essv5120675,essv5096380,essv5029632,essv5032504,essv5077578,essv5107284,essv5051485,essv5065277,essv5022240,essv5063301,essv5039489,essv5015339,essv5095931,essv5016407,essv5026205,essv5151197,essv5058129,essv5114064,essv5155668,essv5074786,essv5040914,essv5020849,essv5088443,essv5053035,essv5078713,essv5130950,essv5116323,essv5132218,essv5126859,essv5036011,essv5015163,essv5047793,essv5035195,essv5134801,essv5124198,essv5102807,essv5061114,essv5054495,essv5100937,essv5111473,essv5135572,essv5125909,essv5134884,essv5134661,essv5094101,essv5120347,essv5139747,essv5088960,essv5086926,essv5111494,essv5146884,essv5131079,essv5040218,essv5084428,essv5158834,essv5063721,essv5068932,essv5021032,essv5062691,essv5092734,essv5133374,essv5153744,essv5044058,essv5145166,essv5076501,essv5135673,essv5004330,essv5149855,essv5121714,essv5070970,essv5056619,essv5062599,essv5111212,essv5093231,essv5114160,essv5038360,essv5067854,essv5109379,essv5152919,essv5023361,essv5141456,essv5006739,essv5028495,essv5112941,essv5029686,essv5035323,essv5034792,essv5158958,essv5123813,essv5017146,essv5148593,essv5065570,essv5141854,essv5082503,essv5073281,essv5144923,essv5090021,essv5040856,essv5070237,essv5071828,essv5154782,essv5123715,essv5065907,essv5080156,essv5097394,essv5073457,essv5127071,essv5033034,essv5063013,essv5088756,essv5033837,essv5113164,essv5068782,essv5053508,essv5087216,essv5054695,essv5115587,essv5103739,essv5144199,essv5039453,essv5061404,essv5140972,essv5071929,essv5097498,essv5081472,essv5123961,essv5073569,essv5038219,essv5022459,essv5157285,essv5157899,essv5096413,essv5049212,essv5064747,essv5087166,essv5115497,essv5019558,essv5112276,essv5004936,essv5015625,essv5107334,essv5152518,essv5047451,essv5077063,essv5015835,essv5015945,essv5064794,essv5060517,essv5157638,essv5094876,essv5116861,essv5104717,essv5036223,essv5128679,essv5136407,essv5143302,essv5041780,essv5100483,essv5038991,essv5005088,essv5142869,essv5119788,essv5041865,essv5126995,essv5101043,essv5072732,essv5132684,essv5062567,essv5023237,essv5145744,essv5044164,essv5059814,essv5128085,essv5076170,essv5040981,essv5147116,essv5114075,essv5077499,essv5145279,essv5002368,essv5114079,essv5133694,essv5063856,essv5101947 M 1184 0 957 HLA-DQA1,HLA-DQB1 NA06984,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10840,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11839,NA11840,NA11843,NA11882,NA11891,NA11892,NA11893,NA11894,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11994,NA12003,NA12006,NA12043,NA12056,NA12057,NA12144,NA12145,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12376,NA12386,NA12399,NA12400,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12815,NA12828,NA12832,NA12842,NA12843,NA12864,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18120,NA18122,NA18124,NA18125,NA18127,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18488,NA18489,NA18497,NA18499,NA18500,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18579,NA18582,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18603,NA18611,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18643,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18934,NA18935,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18957,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18999,NA19000,NA19007,NA19009,NA19010,NA19028,NA19031,NA19035,NA19038,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19086,NA19087,NA19088,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19118,NA19119,NA19120,NA19121,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19151,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19210,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19225,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19308,NA19309,NA19310,NA19313,NA19314,NA19315,NA19316,NA19317,NA19319,NA19324,NA19328,NA19332,NA19334,NA19352,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19385,NA19390,NA19391,NA19393,NA19398,NA19399,NA19404,NA19429,NA19431,NA19434,NA19435,NA19436,NA19438,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19451,NA19452,NA19455,NA19462,NA19463,NA19467,NA19469,NA19470,NA19471,NA19473,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19664,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19818,NA19834,NA19835,NA19900,NA19901,NA19902,NA19904,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20128,NA20129,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20290,NA20294,NA20297,NA20300,NA20301,NA20302,NA20319,NA20333,NA20334,NA20336,NA20337,NA20340,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20524,NA20525,NA20527,NA20528,NA20530,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20543,NA20544,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20807,NA20809,NA20811,NA20812,NA20813,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20856,NA20859,NA20862,NA20866,NA20869,NA20872,NA20873,NA20874,NA20876,NA20877,NA20879,NA20881,NA20883,NA20887,NA20888,NA20891,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20910,NA21086,NA21088,NA21089,NA21091,NA21092,NA21094,NA21097,NA21099,NA21101,NA21102,NA21103,NA21104,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21307,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21378,NA21379,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21477,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21512,NA21513,NA21514,NA21520,NA21521,NA21523,NA21524,NA21525,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21583,NA21596,NA21597,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21693,NA21717,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21784,NA21825,NA21826 nsv823622 6 32717349 32718018 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433691 S 31 0 1 HLA-DQA1 NA18526 dgv6795n71 6 32717405 32735884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885604,nsv885607,nsv885615,nsv885618,nsv885614,nsv885608,nsv885616 M 6533 0 13 HLA-DQA1,HLA-DQB1 IS32167,SP50082,SP50936,SP52160,SP52868,SP54648,SP55597,SP55971,SP56022,SP56223,SP57410,SP57501,SP57507 dgv6796n71 6 32718278 32728261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885606,nsv885613,nsv885610 M 6533 0 5 HLA-DQA1 SP50102,SP50107,SP52858,SP56307,SP57443 nsv823623 6 32718420 32723394 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440318 S 31 0 1 HLA-DQA1 NA18547 dgv1036n67 6 32718420 32728508 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823625,nsv823624 M 31 0 4 HLA-DQA1 AK8,NA18537,NA18947,NA18972 nsv820032 6 32718444 32723469 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419676 S 2 1 0 HLA-DQA1 AK1 esv29995 6 32718791 32732964 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84234 S 2 1 0 HLA-DQA1 HuRef dgv1037n67 6 32720046 32720643 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823627,nsv823626 M 31 0 4 "" NA18542,NA18564,NA18942,NA18951 nsv823628 6 32720046 32721540 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432089,nssv1438869,nssv1435902 M 31 1 2 "" AK20,NA18566,NA18973 nsv823629 6 32720046 32723394 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441099 S 31 0 1 "" NA18969 nsv885619 6 32720605 32756221 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530143 S 6533 1 0 HLA-DQB1 MS10204 dgv6797n71 6 32722015 32747141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885623,nsv885620,nsv885629,nsv885624 M 6533 0 4 HLA-DQB1 IS38271,IS40890,IS41871,MS10381 dgv6798n71 6 32722015 32765556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885627,nsv885625,nsv885628,nsv885626,nsv885621 M 6533 0 6 HLA-DQB1 IS38315,MS11755,MS16406,MS19437,MS20305,MS22748 esv2029020 6 32722791 32723403 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902507 S 1 0 1 "" NA18507 nsv819903 6 32723440 32767842 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418736 S 2 1 0 HLA-DQB1 AK1 nsv823630 6 32723758 32728508 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426530,nssv1440329,nssv1433063 M 31 0 3 "" NA18547,NA18592,NA18968 nsv885622 6 32723928 32740809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544686 S 6533 0 1 HLA-DQB1 MS16423 nsv511873 6 32731271 32735943 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624405 S 1 0 1 HLA-DQB1 1 esv8905 6 32731505 32732654 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31346 S 1 0 1 "" SJK nsv885630 6 32732852 32741646 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505077 S 6533 1 0 HLA-DQB1 SP53041 esv7112 6 32732865 32733845 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29553 S 1 0 1 "" SJK nsv885631 6 32733847 32752531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543028 S 6533 0 1 HLA-DQB1 MS16032 nsv885632 6 32734680 32739436 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509399 S 6533 1 0 HLA-DQB1 SP54782 nsv885633 6 32735725 32756221 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579722 S 6533 1 0 HLA-DQB1 IS35169 nsv885634 6 32735725 32758787 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589000,nssv1582627,nssv1569542,nssv1591513 M 6533 1 3 HLA-DQB1 IS31617,IS36064,IS38277,IS38959 nsv885635 6 32735725 32765312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554073 S 6533 1 0 HLA-DQB1 MS20588 dgv6799n71 6 32735730 32742309 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885637,nsv885638,nsv885636 M 6533 3 0 HLA-DQB1 SP51058,SP54983,SP55749 nsv511351 6 32736742 32739436 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625800 S 1 0 1 HLA-DQB1 1 esv6650 6 32739929 32835937 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29091 S 1 0 1 HLA-DQA2,HLA-DQB1,HLA-DQB2 SJK dgv6800n71 6 32740809 32759095 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885644,nsv885647,nsv885639,nsv885643 M 6533 4 0 HLA-DQB1 IS40612,SP50880,SP55056,SP57874 dgv6801n71 6 32740809 32759872 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885642,nsv885649,nsv885650,nsv885645,nsv885640 M 6533 0 7 HLA-DQB1 IS32719,IS34742,MS10821,MS14330,MS16345,SP53041,SP58536 dgv6802n71 6 32740809 32765556 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885641,nsv885648,nsv885658,nsv885659,nsv885646 M 6533 0 6 HLA-DQB1 IS37043,IS40024,MS11552,MS14216,MS18387,SP57329 dgv1038n67 6 32741720 32742336 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823632,nsv823633 M 31 0 2 HLA-DQB1 AK10,NA18973 nsv823634 6 32742904 32743715 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432090 S 31 0 1 "" AK20 dgv6803n71 6 32743927 32771542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885651,nsv885662 M 6533 0 2 "" IS31373,SP80994 nsv823635 6 32744789 32763325 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433075 S 31 0 1 "" NA18592 dgv6804n71 6 32744908 32767055 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885653,nsv885657,nsv885652 M 6533 3 0 "" IS32843,MS14296,SP55269 dgv6805n71 6 32745972 32765556 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885655,nsv885654,nsv885661,nsv885656,nsv885660 M 6533 38 19 "" IS30277,IS30319,IS34185,IS36046,IS36423,IS38008,IS38219,IS38511,IS40890,MS10102,MS10729,MS10999,MS11525,MS12545,MS13028,MS13162,MS13444,MS13795,MS14110,MS14305,MS14824,MS14851,MS15340,MS15737,MS15788,MS15915,MS16266,MS16746,MS16808,MS17974,MS18159,MS19372,MS19553,MS21090,MS21891,MS22268,MS22998,MS23236,MS25699,MS25700,MS25771,MS26019,SP51377,SP52130,SP52379,SP52464,SP54225,SP54726,SP55345,SP55352,SP55851,SP56200,SP56381,SP57404,SP57408,SP58108,SP81347 esv1069995 6 32749252 32749252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211241 S 2 1 0 "" HuRef nsv511874 6 32750435 32756151 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624406 S 1 0 1 "" 1 dgv6806n71 6 32751931 32765556 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885665,nsv885663 M 6533 3 0 "" MS15084,MS15269,MS15973 nsv885664 6 32752837 32765312 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537839,nssv1541627 M 6533 1 1 "" MS13383,MS15392 dgv6807n71 6 32753744 32767856 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885667,nsv885670,nsv885669,nsv885668,nsv885666 M 6533 0 18 "" IS30395,IS30700,IS37689,IS38594,IS39363,MS10820,MS16283,MS17906,MS21294,SP50742,SP51307,SP54166,SP54798,SP56085,SP56807,SP57067,SP57367,SP81422 dgv6808n71 6 32753744 32771829 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885671,nsv885673,nsv885672 M 6533 0 5 "" IS31581,IS34489,IS38391,MS10758,SP81181 nsv885674 6 32756221 32761413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515088 S 6533 0 1 "" SP56120 nsv823636 6 32756437 32765485 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430615 S 31 0 1 "" AK16 nsv823637 6 32758858 32760494 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439704,nssv1423437 M 31 0 2 "" NA18537,NA18999 nsv517426 6 32759095 32763196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659948,nssv662799,nssv683728,nssv693729,nssv691399,nssv674376,nssv678915,nssv674064,nssv674352,nssv693615,nssv654831,nssv656253,nssv652147,nssv674795,nssv676511,nssv674958,nssv681233,nssv676562,nssv677073,nssv686149,nssv694002,nssv656291,nssv664128,nssv680440,nssv689365,nssv656104,nssv690902,nssv669022,nssv668025,nssv682775,nssv676061,nssv666138,nssv663386,nssv658155,nssv678717,nssv660065,nssv653393,nssv652674,nssv680097,nssv678738,nssv666465,nssv686784,nssv653265,nssv683474,nssv689558,nssv651995,nssv662391,nssv667997,nssv676816,nssv676899,nssv662992,nssv667256,nssv657027,nssv680457,nssv658033,nssv686906,nssv670295,nssv671136,nssv693019,nssv667693,nssv660525,nssv661725,nssv655291,nssv672221,nssv681931,nssv687164,nssv670571,nssv667925,nssv691400,nssv679327,nssv667038 M 2026 0 71 "" dgv6809n71 6 32759872 32771829 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885675,nsv885676 M 6533 0 3 "" IS33530,MS11194,MS17878 nsv823638 6 32759935 32763367 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429099 S 31 0 1 "" AK12 nsv462886 6 32760295 32772436 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538956 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01250 nsv823639 6 32761603 32762815 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439705 S 31 0 1 "" NA18537 nsv885677 6 32762692 32781552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567591 S 6533 0 1 "" IS31123 nsv7884 6 32763421 32767130 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15301 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv33117 6 32765697 32787066 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95079,essv93022,essv97325,essv96462,essv100594,essv100497 M 51 0 5 "" 21721,21863,21879,22261,22298 esv270164 6 32765889 32766161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500831,essv2502913,essv2495859,essv2508374,essv2494386,essv2509937,essv2493589,essv2494969,essv2508764,essv2508303,essv2507818,essv2512686,essv2508438,essv2508651,essv2496056,essv2499278,essv2512903,essv2505167,essv2507059,essv2511599,essv2503173,essv2503474,essv2502431,essv2500534,essv2497407,essv2500730,essv2512779,essv2506556,essv2497627,essv2510498,essv2496998,essv2503667 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11830,NA12156,NA12489,NA12749,NA18502,NA18508,NA18517,NA18520,NA18532,NA18561,NA18564,NA18577,NA18582,NA18592,NA18603,NA18605,NA18609,NA18853,NA18870,NA18940,NA18943,NA18947,NA18948,NA18956,NA18959,NA18973,NA18980,NA19108,NA19147,NA19172,NA19190 nsv7885 6 32766412 32772134 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14225 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv512873 6 32770490 32771284 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625516 S 1 1 0 "" 1 nsv516438 6 32773398 32773737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683962,nssv668416,nssv688406,nssv697426 M 2026 0 4 "" nsv522682 6 32773398 32774504 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706090 S 2026 0 1 "" dgv6810n71 6 32774504 32792250 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885694,nsv885685,nsv885678 M 6533 0 5 "" IS31067,IS31373,IS33763,IS34489,IS35181 nsv528310 6 32774800 32777417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704888 S 2026 0 1 "" nsv462887 6 32774800 32777745 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538957 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01323 dgv6811n71 6 32774975 32781552 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885683,nsv885679,nsv885684,nsv885689 M 6533 0 13 "" IS31081,IS31189,IS31218,IS31401,IS31546,IS31581,IS33776,IS33839,IS38065,IS38123,IS38183,IS39944,MS10737 dgv6812n71 6 32775208 32779081 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885680,nsv885681 M 6533 0 2 "" MS20670,SP57314 nsv7886 6 32775260 32793749 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14184,nssv14497,nssv16733,nssv13339,nssv14385,nssv14306 M 31 5 1 Samples from several populations that are part of the HapMap project. "" NA11830,NA18537,NA18572,NA18972,NA18975,NA19007 nsv470810 6 32775887 32779081 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544478,nssv544479 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00867,HGDP00891 dgv6813n71 6 32775888 32780659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885687,nsv885682,nsv885688 M 6533 0 3 "" IS30593,IS33797,SP52723 nsv437966 6 32776417 32780000 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468750,nssv468756,nssv468748,nssv468751,nssv468755,nssv468753,nssv468749,nssv468754 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18506,NA18508,NA18521,NA18523,NA19192,NA19194 nsv885686 6 32776824 32779081 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568746 S 6533 0 1 "" IS31335 nsv885690 6 32776824 32782627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571241 S 6533 1 0 "" IS32653 nsv885691 6 32776824 32785077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591822,nssv1574116,nssv1594140 M 6533 0 3 "" IS33514,IS39046,IS39716 dgv6814n71 6 32776824 32788906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885692,nsv885698 M 6533 0 2 "" IS31652,IS38254 nsv885693 6 32776824 32788906 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598396,nssv1575868,nssv1572037 M 6533 1 2 "" IS32843,IS33832,IS41113 nsv523398 6 32777062 32777249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699149 S 2026 0 1 "" nsv521352 6 32777062 32777417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697963 S 2026 0 1 "" nsv462888 6 32777062 32778088 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538958 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00732 nsv462889 6 32777134 32779226 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538959 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00734 nsv885695 6 32778286 32780060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572073 S 6533 1 0 "" IS32858 dgv6815n71 6 32778286 32781552 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885696,nsv885705 M 6533 2 3 "" IS30923,IS32361,IS33601,IS37837,IS40197 dgv6816n71 6 32778286 32782627 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885699,nsv885703,nsv885700,nsv885697 M 6533 4 0 "" IS32533,IS33590,IS40031,IS40072 dgv6817n71 6 32778473 32781552 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885701,nsv885702 M 6533 0 2 "" IS30553,IS41634 nsv885704 6 32778473 32785077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577680,nssv1597144 M 6533 2 0 "" IS34523,IS40744 nsv521353 6 32778554 32787668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697964 S 2026 0 1 "" nsv516740 6 32783168 32785066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670572,nssv662610 M 2026 0 2 "" nsv511875 6 32784151 32785409 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624407 S 1 0 1 "" 1 esv2112477 6 32784378 32785148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4732305 S 1 0 1 "" NA18507 esv8437 6 32784442 32785011 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30878 S 1 0 1 "" SJK esv1768131 6 32784552 32785009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167507 S 2 0 1 "" HuRef nsv349440 6 32784556 32785007 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368018 M 24 "" nsv462890 6 32790642 32793843 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538960 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00309 esv267774 6 32795113 32795447 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576104,essv2526289,essv2542361,essv2536756,essv2545636,essv2577248,essv2521584,essv2550604,essv2544355,essv2552049,essv2547586,essv2558439,essv2564393,essv2564228,essv2562144,essv2537682,essv2546936,essv2539040,essv2561699,essv2544935,essv2552889,essv2541093,essv2538233,essv2542827,essv2540278,essv2524620,essv2564988,essv2534503,essv2561216,essv2539589,essv2519734,essv2560159,essv2521987,essv2566014,essv2531051,essv2532558,essv2567697,essv2528688,essv2567582,essv2541675,essv2563777,essv2553311,essv2572594,essv2559056,essv2542199,essv2527988,essv2534046,essv2578163,essv2529858,essv2557617,essv2531381,essv2573632,essv2543056,essv2576922,essv2572089,essv2524306,essv2571527,essv2551206,essv2538064,essv2533188,essv2554532,essv2547807,essv2563477,essv2558113 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA10847,NA10851,NA11830,NA11918,NA11919,NA11920,NA12003,NA12043,NA12144,NA12155,NA12414,NA12489,NA12717,NA12750,NA12751,NA12828,NA12874,NA12878,NA12892,NA18519,NA18523,NA18526,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18603,NA18605,NA18609,NA18638,NA18856,NA18907,NA18916,NA18940,NA18949,NA18953,NA18961,NA18964,NA18965,NA18970,NA18973,NA19129,NA19238,NA19257 esv273717 6 32795119 32795451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581716,essv2582390 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv507323 6 32795747 32801747 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617702 S 4 1 0 "" CHM esv2588749 6 32796042 32810091 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163354 S 1 0 1 "" NA18507 nsv7887 6 32796355 32810771 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15331,nssv15579,nssv16363,nssv15156,nssv15361,nssv14214,nssv16377,nssv14336,nssv15792 M 31 8 1 Samples from several populations that are part of the HapMap project. "" NA10863,NA12740,NA18502,NA18504,NA18975,NA19007,NA19132,NA19240 esv269846 6 32796539 32796700 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565758,essv2575851,essv2571811,essv2546491,essv2526151,essv2536419,essv2570776,essv2545256,essv2577646,essv2521706,essv2550576,essv2525513,essv2520661,essv2547251,essv2529347,essv2558402,essv2564716,essv2553601,essv2565478,essv2564233,essv2562130,essv2537547,essv2546646,essv2550076,essv2539111,essv2561449,essv2544710,essv2562841,essv2523902,essv2552864,essv2541366,essv2538332,essv2542734,essv2540404,essv2524700,essv2565189,essv2534891,essv2561025,essv2539905,essv2549266,essv2519749,essv2559839,essv2522000,essv2566193,essv2530926,essv2532735,essv2568002,essv2528956,essv2541587,essv2563926,essv2553477,essv2559290,essv2541929,essv2556309,essv2527878,essv2539386,essv2573192,essv2555231,essv2566617,essv2573910,essv2527664,essv2534363,essv2531644,essv2573466,essv2543191,essv2524227,essv2571494,essv2551446,essv2538109,essv2533299,essv2554771,essv2563360,essv2557963 M 157 73 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10847,NA10851,NA11829,NA11830,NA11840,NA11881,NA11918,NA11920,NA11993,NA12003,NA12043,NA12144,NA12155,NA12156,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12812,NA12828,NA12874,NA12878,NA12892,NA18511,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18603,NA18605,NA18638,NA18856,NA18871,NA18907,NA18912,NA18942,NA18943,NA18948,NA18951,NA18952,NA18959,NA18961,NA18964,NA18965,NA19129,NA19238,NA19257 esv272160 6 32796539 32796753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581846,essv2583236 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv32761 6 32816473 32821064 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95619 S 51 0 1 HLA-DQA2 21841 nsv885706 6 32822121 32831895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571038 S 6533 1 0 HLA-DQA2,HLA-DQB2 IS32518 nsv885707 6 32855038 32865275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596327 S 6533 0 1 "" IS40492 nsv885708 6 32855038 32873108 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594323,nssv1598232,nssv1570544 M 6533 0 3 "" IS32166,IS39784,IS41043 esv3084 6 32857151 32857565 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25525 S 1 0 1 Single Asian sample YH "" YH esv5925 6 32857206 32857530 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28366 S 1 0 1 "" SJK nsv885709 6 32863268 32885730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514688 S 6533 0 1 "" SP56047 nsv885710 6 32871866 32885730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585731 S 6533 0 1 "" IS37639 nsv527563 6 32873429 32877641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704024 S 2026 0 1 "" nsv511317 6 32873992 32874150 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625421 S 1 0 1 "" 1 nsv885711 6 32875651 32882982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499207 S 6533 0 1 "" SP50061 esv268935 6 32881392 32881477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514199,essv2516323,essv2515545,essv2517634,essv2519453 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12043,NA12814,NA12815,NA12878 esv273699 6 32881392 32881477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581629 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1622107 6 32881415 32881415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208034 S 2 1 0 "" HuRef nsv510024 6 32884679 32890679 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621282,nssv618232 M 4 0 2 HLA-DOB CHM,NA15510 esv2442731 6 32886047 32887936 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361998 S 1 0 1 "" NA18507 nsv820419 6 32886230 32887855 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420582 S 1 0 1 "" NA10851 dgv52n50 6 32886526 32887974 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511328,nsv511876 M 1 0 1 "" 1 esv7959 6 32886603 32887811 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30400 S 1 0 1 "" SJK esv1307281 6 32886732 32887798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061960 S 2 0 1 "" HuRef nsv885712 6 32903010 32905466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589740 S 6533 0 1 TAP2 IS38403 esv1707688 6 32903482 32903659 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765629 S 2 0 1 TAP2 HuRef esv33465 6 32903573 32903648 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100550 S 51 0 1 TAP2 22298 esv32583 6 32903573 32904136 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97759 S 51 0 1 TAP2 22278 nsv522573 6 32904663 32906261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705957 S 2026 0 1 TAP2 nsv830633 6 32904840 33071389 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445371 S 95 0 1 BRD2,HLA-DMA,HLA-DMB,LOC100294145,LOC100507463,PSMB8,PSMB9,TAP1,TAP2 nsv462891 6 32906526 32912912 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538961 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TAP2 HGDP01147 nsv885714 6 32936672 32953851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577681 S 6533 1 0 "" IS34523 dgv6818n71 6 32936672 32955328 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885716,nsv885715,nsv885713 M 6533 0 3 "" IS31187,IS35742,IS35788 nsv885717 6 32938012 33006850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572038 S 6533 1 0 LOC100294145 IS32843 nsv885718 6 32943593 32955328 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570084 S 6533 1 0 "" IS31799 nsv885719 6 32943593 33003558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598373 S 6533 0 1 LOC100294145 IS41317 esv2299122 6 32944218 32944657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4791619 S 1 0 1 "" NA18507 nsv508400 6 32947274 33000150 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618787 S 4 0 1 LOC100294145 NA10860 dgv6819n71 6 32971121 32985051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885727,nsv885726,nsv885720 M 6533 0 3 LOC100294145 IS31213,IS35742,IS41113 nsv885721 6 32971121 32988273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600801 S 6533 0 1 LOC100294145 IS41926 dgv6820n71 6 32971121 33006850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885729,nsv885733,nsv885722,nsv885731,nsv885730 M 6533 0 5 LOC100294145 IS31768,IS35911,IS36527,MS21249,SP56047 dgv1937e1 6 32973767 33072074 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4849,essv9436,esv250 M 271 0 0 BRD2,HLA-DMA,HLA-DMB,LOC100294145 NA18540,NA19208 nsv885723 6 32973975 32981091 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585453,nssv1590706 M 6533 2 0 LOC100294145 IS37458,IS38567 nsv885724 6 32973975 32982774 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569329,nssv1576005 M 6533 1 1 LOC100294145 IS31563,IS33857 dgv6821n71 6 32973975 32985244 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885728,nsv885725 M 6533 3 0 LOC100294145 IS34523,IS36364,IS41576 nsv885732 6 32973975 33006850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591422 S 6533 1 0 LOC100294145 IS38810 nsv523465 6 32977893 32978035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699223 S 2026 0 1 LOC100294145 nsv885734 6 32978035 32988273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552712 S 6533 0 1 LOC100294145 MS19587 nsv885735 6 32989505 32999316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508438 S 6533 0 1 "" SP54606 dgv6822n71 6 32989505 33006850 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv885742,nsv885736 M 6533 10 4 "" IS31145,IS31563,IS32533,IS32602,IS33636,IS35431,IS36364,IS38634,IS39046,IS40429,IS40577,IS40646,IS40819,IS41576 dgv6823n71 6 32991817 33007274 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885737,nsv885738,nsv885744,nsv885741 M 6533 5 0 "" IS32775,IS33857,IS34523,IS40744,IS41672 dgv6824n71 6 32993626 33004786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885743,nsv885739,nsv885740 M 6533 0 3 "" IS30824,IS35788,IS39944 nsv885745 6 32996716 33005683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542440 S 6533 0 1 "" MS15782 nsv885746 6 32999316 33006850 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568288,nssv1584185 M 6533 1 1 "" IS31228,IS36893 nsv819732 6 33011054 33011262 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419192 S 2 0 1 HLA-DMB AK1 esv33619 6 33014616 33014679 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93618 S 51 1 0 HLA-DMB 21972 nsv527280 6 33045879 33049169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703692 S 2026 0 1 BRD2 nsv819221 6 33047101 33047738 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419036 S 2 1 0 BRD2 AK1 nsv885747 6 33061258 33076254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598907 S 6533 0 1 "" IS41317 nsv885749 6 33064432 33073920 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596817 S 6533 1 0 "" IS40646 dgv6825n71 6 33064432 33076254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885751,nsv885750,nsv885748,nsv885752 M 6533 0 4 "" IS31228,IS31576,IS31679,IS38057 nsv526252 6 33069082 33070398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702524 S 2026 0 1 "" nsv512874 6 33092654 33092735 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625517 S 1 1 0 "" 1 nsv885753 6 33106542 33126704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597988 S 6533 0 1 "" IS41317 nsv819387 6 33114862 33144419 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418716 S 2 0 1 HLA-DPA1 AK1 nsv885754 6 33116524 33159117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592631 S 6533 1 0 HLA-DPA1,HLA-DPB1 IS39243 esv1776819 6 33117527 33117645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590228 S 2 0 1 "" HuRef nsv885755 6 33128820 33138863 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533169 S 6533 1 0 "" MS11032 esv6170 6 33129810 33132165 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28611 S 1 0 0 "" SJK esv22467 6 33130776 33163323 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12728,esv20362,esv10448,esv18715,esv10362 M 451 0 23 HLA-DPA1,HLA-DPB1 NA07037,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv1039n67 6 33133127 33149041 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823643,nsv823644,nsv823640 M 31 0 3 HLA-DPA1 NA18537,NA18947,NA18973 esv2545651 6 33133374 33145599 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363568 S 1 0 1 HLA-DPA1 NA18507 nsv823641 6 33133544 33144377 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429846 S 31 0 1 HLA-DPA1 AK14 dgv6826n71 6 33133800 33147782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885756,nsv885757,nsv885761 M 6533 0 3 HLA-DPA1 MS10769,SP52708,SP55878 esv2481368 6 33134096 33137410 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316558 S 1 0 1 "" NA18507 dgv6827n71 6 33134224 33150858 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885762,nsv885758 M 6533 0 2 HLA-DPA1 IS37646,MS12886 nsv885759 6 33134224 33159117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555301,nssv1598926,nssv1600996 M 6533 0 3 HLA-DPA1,HLA-DPB1 IS40890,IS41956,MS21258 nsv511324 6 33134531 33140166 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625500 S 1 1 0 "" 1 nsv885760 6 33136092 33144483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503108,nssv1518138 M 6533 0 2 HLA-DPA1 SP51486,SP57469 nsv823645 6 33136946 33167119 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440340 S 31 0 1 HLA-DPA1,HLA-DPB1 NA18547 esv273878 6 33138238 33139920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580066,essv2580552,essv2579246,essv2579632 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv269525 6 33138254 33139953 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511456,essv2508348,essv2508866,essv2512636,essv2510599,essv2493284,essv2504127,essv2503058,essv2509791,essv2496398,essv2501109,essv2493753,essv2494693,essv2495005,essv2509104,essv2498274,essv2500374,essv2497192,essv2500058,essv2507809,essv2506398,essv2511291,essv2500117,essv2507697,essv2510023,essv2496128,essv2499265,essv2501623,essv2512836,essv2505284,essv2498400,essv2505770,essv2507078,essv2494012,essv2513412,essv2509347,essv2495588,essv2504964,essv2511136,essv2497924,essv2505393,essv2509396,essv2503718,essv2495939,essv2500713,essv2501420,essv2504877,essv2507033,essv2506503,essv2499152,essv2510831,essv2509458,essv2497487,essv2496892,essv2512133,essv2501969,essv2498239,essv2502093,essv2499547,essv2513037 M 157 60 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA11920,NA12749,NA12878,NA18489,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18537,NA18552,NA18558,NA18564,NA18566,NA18570,NA18573,NA18576,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18944,NA18945,NA18952,NA18953,NA18960,NA18961,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 nsv885763 6 33138863 33144483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515341 S 6533 0 1 HLA-DPA1 SP56172 nsv823646 6 33140555 33149134 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431344 S 31 0 1 HLA-DPA1 AK18 esv1006913 6 33140648 33164153 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586721 S 3 1 0 HLA-DPA1,HLA-DPB1 HuRef nsv823647 6 33140858 33144377 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433086 S 31 0 1 HLA-DPA1 NA18592 nsv823648 6 33141554 33143486 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426704,nssv1440383,nssv1431345 M 31 0 3 HLA-DPA1 AK18,AK6,NA18564 nsv823649 6 33145455 33149134 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429847 S 31 0 1 HLA-DPA1 AK14 nsv885764 6 33146347 33151498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505441 S 6533 0 1 HLA-DPA1 SP53490 nsv823650 6 33147626 33148154 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426706 S 31 0 1 HLA-DPA1 AK6 dgv1040n67 6 33156337 33162907 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823651,nsv823655,nsv823654,nsv823652 M 31 0 8 HLA-DPA1,HLA-DPB1 NA18552,NA18566,NA18592,NA18942,NA18947,NA18951,NA18968,NA18999 nsv819171 6 33157536 33167169 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418581 S 2 0 1 HLA-DPB1 AK1 nsv823656 6 33157863 33167389 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429848 S 31 0 1 HLA-DPB1 AK14 dgv1041n67 6 33158652 33162859 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823660,nsv823659,nsv823657,nsv823658 M 31 0 5 HLA-DPB1 AK18,AK6,AK8,NA18582,NA18973 dgv1042n67 6 33160063 33160687 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823662,nsv823661 M 31 0 7 HLA-DPB1 AK14,AK18,NA18547,NA18592,NA18947,NA18968,NA18973 nsv462892 6 33162839 33168927 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538962 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HLA-DPB1 HGDP01290 nsv516221 6 33162839 33193829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666882,nssv662088,nssv696796,nssv673411,nssv680983,nssv681345 M 2026 0 6 HLA-DPB1,HLA-DPB2 dgv6828n71 6 33164875 33179402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885766,nsv885765 M 6533 0 2 HLA-DPB1 IS37771,IS38298 esv1972195 6 33178774 33179158 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942811 S 1 0 1 "" NA18507 esv33191 6 33191586 33191647 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101026,essv98306,essv94815,essv94087,essv101352,essv97908,essv95554,essv94540,essv97133,essv93270,essv92567,essv96496,essv97763,essv100283,essv100514,essv96381 M 51 16 0 HLA-DPB2 21693,21772,21791,21802,21805,21837,21847,21932,22075,22170,22233,22261,22278,22286,22298,22371 esv32606 6 33193163 33203995 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98697 S 51 1 0 HLA-DPB2 21606 esv2650098 6 33200986 33202167 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345015 S 1 0 1 HLA-DPB2 NA18507 esv2199795 6 33201201 33201914 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976185 S 1 0 1 HLA-DPB2 NA18507 esv3157 6 33201358 33201927 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25598 S 1 0 1 Single Asian sample YH HLA-DPB2 YH esv7387 6 33201399 33201722 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29828 S 1 0 1 HLA-DPB2 SJK nsv885767 6 33204744 33249231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546602 S 6533 0 1 COL11A2,HLA-DPB2 MS17208 esv24468 6 33206577 33209908 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15086,esv15722 M 451 9 0 "" NA06985,NA11931,NA12006,NA12828,NA12878,NA18517,NA18907,NA18909,NA19190 esv32959 6 33216135 33216241 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95821 S 51 0 1 "" 21911 nsv821244 6 33233848 33234834 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420583 S 1 0 1 "" NA10851 nsv823663 6 33233848 33234834 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441100,nssv1426903,nssv1429850,nssv1433692,nssv1431349 M 31 3 2 "" AK14,AK18,NA18526,NA18947,NA18969 esv9202 6 33233916 33234826 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31643 S 1 0 1 "" SJK nsv528907 6 33244123 33250517 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705592 S 2026 0 1 COL11A2 nsv348539 6 33252386 33253403 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367117 M 24 COL11A2 nsv885768 6 33263203 33290848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509859 S 6533 0 1 COL11A2,HSD17B8,MIR219-1,RING1,RXRB,SLC39A7 SP54956 nsv830634 6 33269195 33438723 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445374,nssv1445372 M 95 0 2 B3GALT4,DAXX,HCG25,HSD17B8,MIR219-1,PFDN6,RGL2,RING1,RPS18,RXRB,SLC39A7,TAPBP,VPS52,WDR46,ZBTB22 nsv522719 6 33271429 33290873 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698349 S 2026 0 1 HSD17B8,MIR219-1,RING1,RXRB,SLC39A7 esv270331 6 33311164 33311249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513886,essv2518337 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19240 esv274275 6 33311164 33311249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581438 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv5249 6 33339721 33357456 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8229 S 9 0 1 B3GALT4,RPS18,VPS52,WDR46 NA12156 nsv830635 6 33345983 33521765 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445375 S 95 0 1 B3GALT4,CUTA,DAXX,KIFC1,PFDN6,PHF1,RGL2,RPS18,SYNGAP1,TAPBP,VPS52,WDR46,ZBTB22 esv29761 6 33357063 33358398 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9776 S 451 0 1 WDR46 NA12749 nsv823665 6 33388977 33389620 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429852 S 31 1 0 TAPBP AK14 esv22635 6 33397489 33404263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10737 S 451 0 1 DAXX NA18505 nsv510025 6 33429524 33435524 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618233 S 4 0 1 "" CHM nsv830637 6 33437343 33618682 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445377,nssv1445376 M 95 0 2 CUTA,KIFC1,PHF1,SYNGAP1,ZBTB9 nsv885769 6 33485500 33520175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509860 S 6533 0 1 CUTA,KIFC1,PHF1,SYNGAP1 SP54956 nsv437503 6 33516520 33529555 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467384 S 60 0 1 Samples from several populations that are part of the HapMap project. SYNGAP1 NA19208 nsv521506 6 33576129 33588716 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698123 S 2026 1 0 "" nsv524010 6 33576129 33613959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699870 S 2026 0 1 "" esv2093173 6 33583509 33583941 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875969 S 1 0 1 "" NA18507 nsv528962 6 33588413 33593219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705658 S 2026 0 1 "" esv2535308 6 33600271 33602679 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386838 S 1 0 1 "" NA18507 esv1926513 6 33600942 33602129 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565650 S 1 0 1 "" NA18507 nsv519079 6 33648187 33650516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696550 S 2026 0 1 BAK1 nsv885770 6 33651387 33722105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575038 S 6533 0 1 BAK1,GGNBP1,ITPR3,LINC00336 IS33684 dgv85n68 6 33659180 33819324 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv830638,nsv830639 M 95 0 2 C6orf125,GGNBP1,IP6K3,ITPR3,LINC00336 esv992246 6 33669686 33678952 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564152 S 3 0 1 "" HuRef nsv5250 6 33672995 33706348 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2582 S 9 0 1 ITPR3 NA18555 esv2575696 6 33690855 33694738 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178769 S 1 0 1 "" NA18507 nsv511877 6 33690929 33693841 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624409 S 1 0 1 "" 1 esv2083910 6 33690991 33693996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906738 S 1 0 1 "" NA18507 esv4388 6 33691131 33693888 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26829 S 1 0 1 Single Asian sample YH "" YH esv24330 6 33691917 33693857 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15757 S 451 0 20 "" NA06985,NA07045,NA12287,NA12414,NA12776,NA12878,NA15510,NA18508,NA18517,NA18523,NA18861,NA18909,NA18916,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514352 6 33692000 33693060 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627801 S 1414 0 1 "" nsv470811 6 33730911 33755629 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544481,nssv544480 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ITPR3 HGDP00288,HGDP00546 nsv885771 6 33734695 33768121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530546 S 6533 0 1 ITPR3 MS10311 nsv522906 6 33746158 33755629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698564 S 2026 0 1 ITPR3 nsv885772 6 33746158 33875705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546603 S 6533 0 1 C6orf125,IP6K3,ITPR3,LEMD2,MLN MS17208 esv8764 6 33750479 33750549 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31205 S 1 1 0 ITPR3 SJK nsv509128 6 33811955 33899311 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619447 S 4 1 0 IP6K3,LEMD2,MLN NA10860 nsv885773 6 33886942 33921021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534700 S 6533 0 1 "" MS11726 nsv885774 6 33886942 33948099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529802 S 6533 0 1 "" MS10123 nsv885775 6 33896033 33936156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572633 S 6533 0 1 "" IS33162 esv269519 6 33903159 33904609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507279,essv2501428,essv2499014,essv2510952,essv2493512 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18870,NA19093,NA19114,NA19116,NA19137 esv23561 6 33904252 33905787 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15073,esv13645 M 451 2 0 "" NA18907,NA19114 esv2289624 6 33905086 33905514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814615 S 1 0 1 "" NA18507 esv1002306 6 33905202 33905787 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586585 S 3 0 1 "" HuRef nsv885776 6 33925907 33954121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546604 S 6533 0 1 "" MS17208 esv270913 6 33965802 33965881 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571735,essv2568070,essv2535467,essv2552266,essv2520706,essv2537629,essv2528410,essv2549114 M 157 8 0 Samples from several populations that are part of the HapMap project. LOC100507584 NA07037,NA11840,NA11995,NA12249,NA12489,NA12716,NA12878,NA12891 esv272927 6 33965806 33966139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582123,essv2583165,essv2584314 M 7 3 0 Samples from several populations that are part of the HapMap project. LOC100507584 NA12878,NA12892,NA19238 nsv5251 6 33993058 34006026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4910 S 9 1 0 "" NA19129 nsv5252 6 34027425 34063358 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3429 S 9 0 1 "" NA12878 nsv527079 6 34035289 34051992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703458 S 2026 0 1 "" dgv118n17 6 34036368 34051992 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437507,nsv437506,nsv437505,nsv437504 M 60 0 4 "" NA18500,NA18857,NA19094,NA19161 esv998264 6 34036859 34042591 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564406 S 3 0 1 "" HuRef esv1288041 6 34042873 34042873 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163135 S 2 1 0 "" HuRef nsv437508 6 34045166 34051992 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467389 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19139 esv2486134 6 34045409 34051678 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342891 S 1 0 1 "" NA18507 nsv436495 6 34045613 34050884 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466271 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2143917 6 34045661 34050807 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522050 S 1 0 1 "" NA18507 esv25049 6 34045801 34051014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14948,esv19737 M 451 0 18 "" NA07037,NA11931,NA11993,NA12414,NA12749,NA12878,NA18502,NA18505,NA18508,NA18511,NA18523,NA18907,NA18916,NA19099,NA19108,NA19114,NA19225,NA19257 nsv437967 6 34046274 34050206 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468765,nssv468761,nssv468757,nssv468762,nssv468760,nssv468768,nssv468767,nssv468764,nssv468759,nssv468758,nssv468769,nssv468766 M 269 0 12 Samples from several populations that are part of the HapMap project. "" NA18500,NA18502,NA18855,NA18857,NA19092,NA19094,NA19138,NA19139,NA19160,NA19161,NA19204,NA19205 nsv514353 6 34046312 34047972 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627802 S 1414 0 1 "" esv2421474 6 34046381 34050683 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5065794,essv5067866,essv5146213,essv5121090,essv5049416,essv5051034,essv5143814,essv5069030,essv5153793,essv5028511,essv5023525,essv5126578,essv5029235,essv5017988,essv5044782,essv5148286,essv5113261,essv5100976,essv5019939,essv5064116,essv5152911,essv5154306,essv5031643,essv5031489,essv5005503,essv5046551,essv5035550,essv5131533,essv5028469,essv5118712,essv5100244,essv5007156,essv5015095,essv5066850,essv5071200,essv5133192,essv5010012,essv5157228,essv5083566,essv5051507,essv5073248,essv5113304,essv5019432,essv5017291,essv5094296,essv5007303,essv5057445,essv5130056,essv5114944,essv5064543,essv5012068,essv5074966,essv5151242,essv5158246,essv5082900,essv5015139,essv5145562,essv5122952,essv5015661,essv5018333,essv5057785,essv5151587,essv5138049,essv5011034,essv5048879,essv5080611,essv5131861,essv5104939,essv5069420,essv5141957,essv5041021,essv5158188,essv5101865,essv5109493,essv5115363,essv5014255,essv5050079,essv5053423,essv5105152,essv5146469,essv5068557,essv5014306,essv5124716,essv5021065,essv5037474,essv5113137,essv5060521,essv5007323,essv5145082,essv5102625,essv5109667,essv5143674,essv5063177,essv5043618,essv5069461,essv5078640,essv5090172,essv5113492,essv5094761,essv5062163,essv5114981,essv5108404,essv5021114,essv5042561,essv5074717,essv5077530,essv5071812,essv5135696,essv5010224,essv5128616,essv5110278,essv5102614,essv5067770,essv5109825,essv5028056,essv5113686,essv5153549,essv5038339,essv5040796,essv5094704,essv5127511,essv5017420,essv5037007,essv5077872,essv5094557,essv5143596,essv5147325,essv5146818,essv5067208,essv5108100,essv5122423,essv5011443,essv5142211,essv5084336,essv5021019,essv5048239,essv5017637,essv5136210,essv5130803,essv5132102,essv5112139,essv5046552,essv5159703,essv5033147,essv5145648,essv5115627,essv5062458,essv5086600,essv5149623,essv5106029,essv5130198,essv5141704,essv5069567,essv5066929,essv5128067,essv5120654,essv5158468,essv5137956,essv5038471,essv5132260,essv5104832,essv5059538,essv5007023,essv5128680,essv5140464,essv5077569,essv5073154,essv5125348,essv5147726,essv5082801,essv5071357,essv5069397,essv5121213,essv5138218,essv5082976,essv5041581,essv5147421,essv5142207,essv5088118,essv5094936,essv5119234,essv5095563,essv5130659,essv5138365,essv5044361,essv5098752,essv5068742,essv5109539,essv5076207,essv5154000,essv5120821,essv5053144,essv5134928,essv5146664,essv5088958,essv5092860,essv5083460,essv5120447,essv5158327,essv5099190,essv5039666,essv5104419,essv5052371,essv5118672,essv5064304,essv5070486,essv5044760,essv5133608,essv5124686,essv5070236,essv5111705,essv5119991,essv5099649,essv5082683,essv5065348,essv5097838,essv5128388,essv5151231,essv5053918,essv5125360,essv5049527,essv5154133,essv5011583,essv5054194,essv5099604,essv5024987,essv5088265,essv5027592,essv5018117,essv5148929,essv5080910,essv5024936,essv5038308,essv5073607,essv5057637,essv5106037,essv5028638,essv5076887,essv5015807,essv5115759,essv5151922,essv5150543,essv5105922,essv5002174,essv5153175,essv5124012,essv5119639,essv5097001,essv5130258,essv5023902,essv5026329,essv5048605,essv5118480,essv5069985,essv5160492,essv5141014,essv5079414,essv5140447,essv5095830,essv5129746,essv5131220,essv5070737,essv5143352 M 1184 0 263 "" NA06986,NA06995,NA07000,NA07029,NA07037,NA07056,NA07347,NA07349,NA10830,NA10836,NA10845,NA10850,NA10859,NA10863,NA11840,NA11881,NA11882,NA11917,NA11931,NA11993,NA12248,NA12264,NA12340,NA12739,NA12749,NA12751,NA12753,NA12763,NA12802,NA12814,NA12832,NA12843,NA12873,NA12878,NA12891,NA17968,NA17976,NA18500,NA18505,NA18506,NA18507,NA18508,NA18509,NA18511,NA18519,NA18550,NA18571,NA18612,NA18645,NA18757,NA18852,NA18854,NA18855,NA18857,NA18859,NA18862,NA18863,NA18874,NA18916,NA18930,NA18933,NA18934,NA18962,NA18975,NA19000,NA19036,NA19041,NA19044,NA19046,NA19094,NA19096,NA19098,NA19099,NA19102,NA19107,NA19108,NA19109,NA19114,NA19115,NA19116,NA19120,NA19137,NA19138,NA19139,NA19140,NA19143,NA19144,NA19146,NA19148,NA19152,NA19160,NA19161,NA19171,NA19176,NA19178,NA19179,NA19180,NA19182,NA19183,NA19189,NA19193,NA19194,NA19198,NA19199,NA19203,NA19204,NA19209,NA19221,NA19222,NA19224,NA19225,NA19226,NA19235,NA19239,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19313,NA19324,NA19327,NA19328,NA19332,NA19359,NA19372,NA19373,NA19374,NA19380,NA19381,NA19382,NA19384,NA19385,NA19391,NA19393,NA19396,NA19431,NA19434,NA19440,NA19444,NA19445,NA19448,NA19452,NA19455,NA19456,NA19462,NA19463,NA19466,NA19467,NA19468,NA19471,NA19474,NA19625,NA19657,NA19700,NA19703,NA19705,NA19708,NA19714,NA19716,NA19718,NA19723,NA19724,NA19756,NA19783,NA19784,NA19835,NA19908,NA19919,NA19985,NA20276,NA20277,NA20295,NA20317,NA20319,NA20334,NA20340,NA20344,NA20345,NA20346,NA20348,NA20349,NA20357,NA20508,NA20515,NA20754,NA20771,NA20774,NA20790,NA20792,NA20803,NA20806,NA20815,NA20818,NA20853,NA20862,NA20872,NA20876,NA20889,NA20902,NA20908,NA21100,NA21104,NA21115,NA21295,NA21318,NA21353,NA21355,NA21360,NA21368,NA21381,NA21384,NA21386,NA21388,NA21389,NA21399,NA21400,NA21401,NA21402,NA21408,NA21414,NA21418,NA21423,NA21425,NA21436,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21455,NA21473,NA21479,NA21489,NA21493,NA21494,NA21509,NA21519,NA21522,NA21528,NA21573,NA21575,NA21576,NA21577,NA21578,NA21587,NA21600,NA21611,NA21616,NA21620,NA21631,NA21632,NA21635,NA21678,NA21689,NA21723,NA21733,NA21740,NA21741,NA21776,NA21826 nsv442980 6 34046721 34050683 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514354 6 34049932 34050592 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627804 S 1414 1 0 "" dgv6829n71 6 34050206 34115032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885778,nsv885777 M 6533 0 2 GRM4,MIR1275 MS10311,MS18276 esv23448 6 34071086 34077139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15494 S 451 0 3 MIR1275 NA12489,NA18511,NA18523 esv7787 6 34120154 34120631 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30228 S 1 0 1 GRM4 SJK esv2518465 6 34120433 34120508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259541 S 1 0 1 GRM4 NA18507 nsv509129 6 34138605 34174797 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619448 S 4 1 0 GRM4 NA10860 nsv511878 6 34144956 34148258 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624410 S 1 0 1 GRM4 1 esv2542860 6 34148881 34149458 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296228 S 1 1 0 GRM4 NA18507 nsv885779 6 34154109 34211640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546605 S 6533 0 1 GRM4 MS17208 esv990009 6 34157746 34165632 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564924 S 3 0 1 GRM4 HuRef nsv885780 6 34158895 34239354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575039 S 6533 0 1 GRM4 IS33684 nsv885781 6 34218235 34355639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546606 S 6533 0 1 C6orf1,HMGA1 MS17208 esv22066 6 34219873 34221198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21322 S 451 0 1 "" NA07045 esv1925720 6 34286362 34287034 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635598 S 1 0 1 "" NA18507 dgv6830n71 6 34295184 34317822 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885783,nsv885782 M 6533 0 2 HMGA1 SP54593,SP55021 nsv885784 6 34295184 34354692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509861 S 6533 0 1 C6orf1,HMGA1 SP54956 nsv823666 6 34309379 34315527 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433693 S 31 1 0 HMGA1 NA18526 esv24915 6 34310116 34314072 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10483 S 451 0 2 HMGA1 NA07045,NA18907 nsv5253 6 34373872 34379925 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10493 S 9 1 0 NUDT3,RPS10-NUDT3 NA18956 esv29044 6 34424989 34427595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14327 S 451 0 5 NUDT3,RPS10-NUDT3 NA12006,NA12239,NA18502,NA19190,NA19240 esv33496 6 34425516 34426525 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98262,essv94455 M 51 0 2 NUDT3,RPS10-NUDT3 21772,21808 esv1159599 6 34473967 34473967 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857692 S 2 1 0 RPS10-NUDT3 HuRef dgv1938e1 6 34490470 34822655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv238,essv1208 M 271 0 0 C6orf106,PACSIN1,RPS10,RPS10-NUDT3,SPDEF NA18951 dgv6831n71 6 34512614 34994414 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885793,nsv885785 M 6533 2 0 ANKS1A,C6orf106,PACSIN1,SNRPC,SPDEF,TAF11,UHRF1BP1 IS33771,SP55514 esv271616 6 34513277 34513362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517210,essv2518848,essv2518330 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18970,NA19239,NA19240 esv273480 6 34513282 34513580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581909,essv2582912,essv2584158 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 nsv462904 6 34524366 34600990 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538963 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PACSIN1 HGDP01211 nsv885786 6 34534862 34650640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546607 S 6533 0 1 PACSIN1,SPDEF MS17208 dgv6832n71 6 34566511 34659890 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885787,nsv885788 M 6533 2 0 PACSIN1,SPDEF IS32703,MS15753 dgv6833n71 6 34582917 34654538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885791,nsv885789,nsv885790 M 6533 0 3 PACSIN1,SPDEF MS16153,SP50159,SP54956 nsv516578 6 34590993 34669563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662089,nssv676764,nssv700401,nssv669286 M 2026 0 4 C6orf106,PACSIN1,SPDEF nsv885792 6 34615289 34715936 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573444 S 6533 1 0 C6orf106,SPDEF IS33372 nsv823667 6 34640993 34700502 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438182 S 31 1 0 C6orf106 NA18951 nsv818410 6 34646522 34687409 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417415 S 112 1 0 C6orf106 NA18951 nsv830640 6 34650467 34822655 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445380 S 95 0 1 C6orf106 esv988873 6 34656859 34665058 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564135 S 3 0 1 C6orf106 HuRef nsv885794 6 34669563 34781127 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571353 S 6533 1 0 C6orf106 IS32703 nsv7888 6 34723059 34730674 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16461 S 31 0 1 Samples from several populations that are part of the HapMap project. C6orf106 NA18860 esv1078185 6 34762653 34762653 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208019 S 2 1 0 C6orf106 HuRef nsv5255 6 34766547 34811541 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8230 S 9 0 1 C6orf106 NA12156 nsv508401 6 34777686 34818280 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617516 S 4 0 1 "" CHM esv270638 6 34782660 34782745 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513906 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv32827 6 34802784 34808099 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100984,essv95444,essv93210 M 51 0 3 "" 21693,21847,22170 nsv821108 6 34807883 34808940 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420584 S 1 0 1 "" NA10851 esv28171 6 34807974 34808940 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11522 S 451 2 14 "" NA07045,NA11931,NA12414,NA12489,NA15510,NA18502,NA18505,NA18511,NA18517,NA18909,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 nsv885795 6 34812591 34931165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564131 S 6533 0 1 SNRPC,UHRF1BP1 IS30171 nsv462905 6 34836231 34994414 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538964 S 1557 1 0 ANKS1A,SNRPC,TAF11,UHRF1BP1 1780854206_A nsv885796 6 34847704 34931165 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573445 S 6533 1 0 SNRPC,UHRF1BP1 IS33372 nsv885797 6 34899005 35088579 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571354 S 6533 1 0 ANKS1A,TAF11,UHRF1BP1 IS32703 nsv508402 6 34948939 35059266 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622547 S 4 0 1 ANKS1A,TAF11,UHRF1BP1 NA18994 nsv5256 6 35012153 35046052 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4911 S 9 1 0 ANKS1A NA19129 nsv5257 6 35033291 35078079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8231 S 9 0 1 ANKS1A NA12156 nsv511879 6 35211646 35214066 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624412 S 1 0 1 TCP11 1 esv2633690 6 35211880 35214002 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249954 S 1 0 1 TCP11 NA18507 esv1001098 6 35212140 35213198 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563916 S 3 0 1 TCP11 HuRef nsv349272 6 35212185 35212785 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367850 M 24 TCP11 esv1533887 6 35212308 35212909 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643941 S 2 0 1 TCP11 HuRef esv2484157 6 35245175 35245809 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359876 S 1 1 0 "" NA18507 dgv1939e1 6 35276094 35398980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv35,essv5331 M 271 0 0 DEF6,SCUBE3,ZNF76 NA18563 esv2750621 6 35335146 35336197 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100660 S 51 1 0 ZNF76 21656 esv32738 6 35338171 35338201 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100885 S 51 1 0 ZNF76 21656 nsv830641 6 35390512 35548581 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445381 S 95 0 1 DEF6,FANCE,PPARD,RPL10A nsv528424 6 35397424 35400182 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705017 S 2026 0 1 DEF6 nsv885798 6 35426762 35437384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503089 S 6533 0 1 PPARD SP51485 nsv462907 6 35441777 35516937 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538966 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPARD HGDP00286 nsv470812 6 35482439 35526096 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544482 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPARD HGDP00313 nsv528351 6 35485900 35573764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704935 S 2026 0 1 FANCE,PPARD,RPL10A,TEAD3,TULP1 nsv885799 6 35486756 35550375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546608 S 6533 0 1 FANCE,PPARD,RPL10A,TEAD3 MS17208 nsv519370 6 35486756 35645384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696816 S 2026 0 1 FANCE,PPARD,RPL10A,TEAD3,TULP1 nsv885800 6 35502225 35514131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499570 S 6533 0 1 PPARD SP50159 nsv462909 6 35565374 35610180 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538967 S 1557 0 1 TEAD3,TULP1 NINDS_49 dgv1940e1 6 35571719 35914482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv109,essv11530 M 271 0 0 C6orf126,C6orf127,C6orf81,CLPS,FKBP5,LHFPL5,LOC285847,SRPK1,TEAD3,TULP1 NA19173 esv23268 6 35572148 35573779 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13071 S 451 0 2 TEAD3,TULP1 NA07045,NA18907 esv2233598 6 35577126 35577535 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765394 S 1 0 1 TULP1 NA18507 nsv7889 6 35603481 35674366 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14879 S 31 1 0 Samples from several populations that are part of the HapMap project. FKBP5 NA19173 dgv751n27 6 35610180 35670618 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462910,nsv462911,nsv462912 M 1557 3 0 FKBP5 HGDP00479,HGDP00941,HGDP01262 nsv470813 6 35610180 35670618 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544486,nssv544483,nssv544487,nssv544484,nssv544485 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FKBP5 HGDP00479,HGDP00941,HGDP00943,HGDP01262,HGDP01266 nsv818412 6 35610180 35670618 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416546,nssv1416547 M 112 2 0 FKBP5 NA19172,NA19173 nsv462913 6 35610180 35700722 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538971 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FKBP5 HGDP01266 nsv517211 6 35610180 35715549 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681980,nssv670258,nssv673440,nssv666568,nssv651751,nssv693945,nssv654020,nssv661085,nssv662028,nssv666166,nssv687535,nssv687600,nssv653101,nssv683963,nssv685313 M 2026 15 0 FKBP5 esv2421382 6 35613289 35672789 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5145767,essv5149170,essv5142945,essv5114831,essv5155824,essv5066149,essv5121429,essv5094566,essv5074015,essv5084627,essv5123205,essv5063449,essv5019961,essv5037877 M 1184 14 0 FKBP5 NA18874,NA19107,NA19109,NA19172,NA19173,NA19182,NA19197,NA19199,NA19200,NA19202,NA19316,NA19818,NA20300,NA21826 nsv441992 6 35613289 35672789 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FKBP5 nsv885801 6 35645384 35779629 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596818 S 6533 1 0 FKBP5 IS40646 esv7205 6 35669724 35669774 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29646 S 1 1 0 FKBP5 SJK nsv7379 6 35675775 35708060 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6061 S 9 0 0 FKBP5 NA12156 nsv5258 6 35709702 35766322 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8233,nssv2583 M 9 0 2 FKBP5 NA12156,NA18555 nsv821646 6 35712406 35910572 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421185,nssv1421186,nssv1421181,nssv1421184,nssv1421415,nssv1421417,nssv1421183,nssv1421414,nssv1421182,nssv1421416 M 31 0 10 C6orf126,C6orf127,C6orf81,CLPS,FKBP5,LHFPL5,LOC285847,SRPK1 nsv508403 6 35727023 35751746 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617517 S 4 0 1 FKBP5 CHM dgv6834n71 6 35729759 35917754 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885803,nsv885804,nsv885802 M 6533 8 0 C6orf126,C6orf127,C6orf81,CLPS,FKBP5,LHFPL5,LOC285847,SRPK1 IS33393,IS35196,IS35260,IS35450,IS36077,IS38212,IS38341,MS22584 nsv511349 6 35733125 35736943 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625777 S 1 0 1 FKBP5 1 esv2169093 6 35734233 35737903 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675710 S 1 0 1 FKBP5 NA18507 esv987803 6 35734251 35737913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564153 S 3 0 1 FKBP5 HuRef esv2603863 6 35734272 35738836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241857 S 1 0 1 FKBP5 NA18507 nsv511880 6 35734332 35737786 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624413 S 1 0 1 FKBP5 1 esv5263 6 35734337 35737894 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27704 S 1 0 1 Single Asian sample YH FKBP5 YH nsv499295 6 35734410 35737725 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585980 S 9 0 1 FKBP5 esv6703 6 35734410 35737734 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29144 S 1 0 1 FKBP5 SJK esv1362467 6 35734412 35737724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124531 S 2 0 1 FKBP5 HuRef esv25611 6 35734415 35737723 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19463,esv12385 M 451 30 0 FKBP5 NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820606 6 35734415 35737723 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420585 S 1 0 1 FKBP5 NA10851 nsv514355 6 35734860 35737728 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627805 S 1414 0 1 FKBP5 dgv1941e1 6 35745061 35914482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23777,essv24398,essv18993 M 271 0 0 C6orf126,C6orf127,C6orf81,CLPS,FKBP5,LHFPL5,LOC285847,SRPK1 NA12005,NA12707,NA12763 nsv428143 6 35745061 35914482 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450736 S 62 1 0 C6orf126,C6orf127,C6orf81,CLPS,FKBP5,LHFPL5,LOC285847,SRPK1 NA18916 esv1964718 6 35757617 35758090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964859 S 1 0 1 FKBP5 NA18507 esv29881 6 35763892 35764737 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14568 S 451 0 1 FKBP5 NA07045 nsv512875 6 35789655 35790976 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625518 S 1 1 0 FKBP5 1 esv1163117 6 35790067 35790067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360658 S 2 1 0 FKBP5 HuRef nsv885805 6 35793933 35887857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590124 S 6533 0 1 C6orf126,C6orf127,C6orf81,CLPS,FKBP5,LHFPL5,LOC285847 IS38463 nsv7890 6 35799999 35809889 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15822 S 31 1 0 Samples from several populations that are part of the HapMap project. FKBP5,LOC285847 NA18502 nsv524941 6 35842029 35853633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700956 S 2026 0 1 C6orf126 nsv525686 6 35842029 35858277 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701844 S 2026 1 0 C6orf126,C6orf127 esv32896 6 35842880 35848128 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98683 S 51 0 1 "" 21606 nsv7891 6 35852168 35880517 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16491,nssv14255,nssv14366,nssv14908,nssv14926,nssv14445,nssv14909,nssv16393,nssv14275,nssv13369,nssv15852,nssv15578,nssv13570,nssv14823,nssv15391,nssv14300,nssv14527,nssv17054,nssv14704,nssv16407 M 31 20 0 Samples from several populations that are part of the HapMap project. C6orf126,C6orf127,CLPS NA07048,NA10839,NA10847,NA11830,NA12155,NA12802,NA18502,NA18504,NA18517,NA18537,NA18552,NA18572,NA18853,NA18860,NA18980,NA19007,NA19132,NA19144,NA19173,NA19240 esv33535 6 35855681 35879293 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98668,essv97601,essv101116,essv93945,essv100896,essv96803,essv100951,essv95216,essv94804,essv94098,essv101363,essv94418,essv96968,essv97868,essv95617,essv93034,essv95240,essv97302,essv95845,essv94563,essv99071,essv92972,essv92769,essv93696,essv96151,essv96688,essv96060,essv93530,essv93275,essv95007,essv92539,essv96494,essv99208,essv97739,essv100152,essv100595,essv100444,essv98427,essv96275 M 51 39 0 C6orf127,CLPS 21606,21616,21618,21634,21656,21659,21693,21721,21791,21802,21805,21808,21817,21837,21841,21863,21872,21879,21911,21932,21938,21939,21944,21972,22007,22011,22127,22128,22170,22231,22233,22261,22275,22278,22286,22298,22300,22352,22371 nsv819076 6 35856878 35874403 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418668 S 2 1 0 C6orf127,CLPS AK1 nsv5259 6 35857915 35896057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv542,nssv543,nssv9426,nssv3430,nssv2585,nssv2584,nssv6063,nssv4912 M 9 6 0 C6orf127,CLPS,LHFPL5 NA12156,NA12878,NA18517,NA18555,NA19129,NA19240 nsv511122 6 35862031 35893128 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618650 S 4 0 0 C6orf127,CLPS,LHFPL5 CHM esv259632 6 35862436 35874869 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394252,essv2393922,essv2393809,essv2393747,essv2394028,essv2394350 M 6 0 0 Samples from several populations that are part of the HapMap project. C6orf127,CLPS NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259851 6 35862444 35874878 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398640,essv2400056,essv2396082,essv2398792,essv2394775,essv2398577,essv2398480,essv2399106,essv2401152,essv2396041,essv2396227,essv2400583,essv2397586,essv2398068,essv2400268,essv2396827,essv2399971,essv2396792,essv2400744,essv2396697,essv2398259,essv2397266,essv2401054,essv2396896,essv2394710,essv2395264,essv2397643,essv2397829,essv2399238,essv2400627,essv2394981,essv2396488,essv2396133,essv2396048,essv2400725,essv2395100,essv2398415,essv2400374,essv2399882,essv2398532,essv2399584,essv2397180,essv2399865,essv2400604,essv2397880,essv2400412,essv2395531,essv2400159,essv2399150,essv2399406,essv2394622,essv2398437,essv2398249,essv2395375,essv2399990,essv2396184,essv2395895,essv2398175,essv2400825,essv2399646,essv2394578,essv2397395,essv2395203,essv2394855,essv2399757,essv2396448,essv2398033,essv2398716,essv2395927,essv2397086,essv2400475,essv2394513 M 144 0 0 Samples from several populations that are part of the HapMap project. C6orf127,CLPS NA06986,NA07051,NA07346,NA07347,NA07357,NA10847,NA11894,NA11920,NA11931,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12249,NA12717,NA12750,NA12763,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18505,NA18508,NA18510,NA18511,NA18517,NA18523,NA18537,NA18542,NA18550,NA18552,NA18555,NA18561,NA18562,NA18570,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18608,NA18609,NA18858,NA18870,NA18871,NA18909,NA18916,NA18940,NA18944,NA18945,NA18949,NA18952,NA18964,NA18965,NA18980,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv25108 6 35862494 35874758 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15463 S 451 33 0 C6orf127,CLPS NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 dgv1043n67 6 35862519 35874914 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823671,nsv823670,nsv823673,nsv823668,nsv823669,nsv823672 M 31 10 0 C6orf127,CLPS AK12,AK14,AK18,AK6,NA18537,NA18542,NA18552,NA18570,NA18592,NA18968 nsv513737 6 35862671 35874511 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626989 S 1 1 0 C6orf127,CLPS 1 dgv156e180 6 35862692 35872346 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003205,esv1009904 M 3 1 0 C6orf127,CLPS HuRef esv990474 6 35869788 35879838 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565559 S 3 1 0 CLPS HuRef nsv528432 6 36066849 36143332 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705025 S 2026 1 0 MAPK14,SLC26A8 esv269948 6 36129725 36129856 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546598,essv2536428,essv2522924,essv2571022,essv2559681,essv2557107,essv2562691,essv2539132,essv2542996,essv2540615,essv2524537,essv2521919,essv2570165,essv2543779,essv2539281,essv2534139,essv2555263,essv2575503,essv2526595,essv2574781,essv2568729,essv2560435,essv2551355,essv2538090,essv2554744,essv2563533 M 157 26 0 Samples from several populations that are part of the HapMap project. MAPK14 NA07000,NA07346,NA10847,NA11881,NA11920,NA11931,NA11993,NA12776,NA18501,NA18507,NA18519,NA18550,NA18552,NA18555,NA18571,NA18593,NA18870,NA18912,NA18916,NA18943,NA19099,NA19114,NA19138,NA19147,NA19190,NA19257 esv2399081 6 36177916 36178363 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814275 S 1 0 1 MAPK14 NA18507 esv33691 6 36373457 36377613 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101277,essv100175,essv98481 M 51 2 1 PNPLA1 21805,22286,22352 esv8401 6 36439166 36439256 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30842 S 1 1 0 ETV7 SJK esv1651866 6 36439171 36439171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271472 S 2 1 0 ETV7 HuRef nsv885806 6 36457868 36729156 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572039 S 6533 1 0 ETV7,KCTD20,MIR3925,PXT1,SRSF3,STK38 IS32843 esv1649787 6 36505040 36505040 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366287 S 2 1 0 PXT1 HuRef nsv350047 6 36551214 36553849 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368625 M 24 KCTD20 nsv5260 6 36579442 36624097 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8234 S 9 0 1 STK38 NA12156 nsv350009 6 36647342 36649413 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368587 M 24 "" esv268039 6 36662452 36662537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515495 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 esv26139 6 36748154 36750160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13626 S 451 0 1 "" NA12239 nsv885807 6 36753674 36759867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509863 S 6533 0 1 CDKN1A SP54956 nsv885808 6 36767910 36792496 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508750 S 6533 1 0 "" SP54607 nsv885809 6 36795496 36827057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575040 S 6533 0 1 CPNE5 IS33684 dgv6835n71 6 36803201 36827057 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885810,nsv885811 M 6533 0 2 CPNE5 MS17208,MS18276 nsv524053 6 36803201 36855384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699919 S 2026 0 1 CPNE5 nsv885812 6 36804882 36813662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503418 S 6533 0 1 "" SP52055 nsv819609 6 36808537 36816921 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419868 S 2 0 1 CPNE5 AK1 dgv379n21 6 36810262 36821698 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520755,nsv525168 M 2026 0 2 CPNE5 nsv885813 6 36810821 36821698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543471 S 6533 0 1 CPNE5 MS16153 nsv885814 6 36812785 36830820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572634 S 6533 0 1 CPNE5 IS33162 nsv5261 6 36862523 36906802 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2586 S 9 0 1 CPNE5 NA18555 nsv818413 6 36863380 36867746 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417303 S 112 0 1 CPNE5 NA18608 esv991181 6 36865230 36876813 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564154 S 3 0 1 CPNE5 HuRef nsv5262 6 36907307 36934188 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8235 S 9 0 1 CPNE5,PPIL1 NA12156 esv2651912 6 36967603 36969161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293225 S 1 0 1 C6orf89 NA18507 dgv380n21 6 37023884 37033752 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519499,nsv522653 M 2026 2 0 PI16 nsv885815 6 37023884 37087561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546610 S 6533 0 1 FGD2,MTCH1,PI16 MS17208 nsv525288 6 37042222 37045625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701393 S 2026 0 1 MTCH1 nsv5263 6 37049603 37080087 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8236 S 9 0 1 MTCH1 NA12156 esv988069 6 37050277 37059045 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564767 S 3 0 1 MTCH1 HuRef nsv518386 6 37050724 37145648 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695817 S 2026 1 0 FGD2,MTCH1 esv21521 6 37059854 37063040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19906 S 451 0 2 MTCH1 NA07045,NA18907 nsv885816 6 37073077 37107660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543472 S 6533 0 1 FGD2 MS16153 nsv515488 6 37086723 37097565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688668,nssv690764,nssv653290,nssv657792,nssv674575,nssv665909,nssv678307,nssv680098 M 2026 0 8 FGD2 nsv5264 6 37234358 37256615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8237 S 9 1 0 PIM1 NA12156 nsv527191 6 37281771 37288501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703588 S 2026 0 1 TMEM217 esv2068563 6 37402759 37403460 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590062 S 1 0 1 TBC1D22B NA18507 nsv521807 6 37403608 37413600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694099 S 2026 0 1 TBC1D22B esv2498217 6 37447875 37451446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337225 S 1 0 1 RNF8 NA18507 nsv520294 6 37468535 37488302 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697332 S 2026 1 0 RNF8 esv2752124 6 37524197 37788600 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981876,essv6981877,essv6981878,essv6985686,essv6985687 M 771 1 0 CCDC167,FTSJD2,MDGA1,MIR4462 BEC_497 nsv5266 6 37582420 37586081 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2722 S 9 1 0 "" NA18555 esv2647628 6 37583221 37583935 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300758 S 1 1 0 "" NA18507 nsv512876 6 37583431 37583980 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625519 S 1 1 0 "" 1 nsv462914 6 37610563 37625463 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538972 S 1557 0 1 "" 1780862306_A esv1006017 6 37624323 37638204 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565721 S 3 0 1 MIR4462 HuRef dgv381n21 6 37640081 37653901 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522466,nsv522098 M 2026 0 2 "" nsv5267 6 37669086 37672682 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv544 S 9 1 0 "" NA19240 esv27953 6 37724349 37726576 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10458 S 451 0 1 MDGA1 NA18907 esv994460 6 37780660 37794248 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565367 S 3 0 1 "" HuRef nsv348792 6 37804080 37804080 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367370 M 24 "" nsv349059 6 37829552 37829753 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367637 M 24 "" esv990874 6 37927245 37927294 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566486 S 3 0 1 ZFAND3 HuRef nsv348662 6 37940415 37940476 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367240 M 24 ZFAND3 esv991004 6 37959020 37960513 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587110 S 3 0 1 ZFAND3 HuRef nsv823674 6 37959020 37960513 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426915,nssv1423439 M 31 0 2 ZFAND3 NA18947,NA18999 esv23277 6 37959222 37960568 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10807 S 451 0 5 ZFAND3 NA18505,NA19099,NA19108,NA19147,NA19257 esv260066 6 38069499 38095333 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395063,essv2398946 M 144 0 0 Samples from several populations that are part of the HapMap project. ZFAND3 NA18571,NA18603 esv34450 6 38071286 38115219 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990380,essv6979558,essv6979557 M 771 1 0 ZFAND3 NA18571 nsv885817 6 38144398 39127481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593540 S 6533 0 1 BTBD9,DNAH8,GLO1,GLP1R,LOC100131047,ZFAND3 IS39438 nsv507324 6 38157957 38163957 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622966,nssv617703,nssv621834 M 4 3 0 ZFAND3 CHM,NA10860,NA18994 esv989910 6 38179224 38179277 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569984 S 3 0 1 ZFAND3 HuRef esv1320553 6 38179239 38179293 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591529 S 2 0 1 ZFAND3 HuRef nsv524213 6 38214822 38268605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700100 S 2026 0 1 BTBD9,ZFAND3 nsv517973 6 38239420 38260438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695386 S 2026 0 1 BTBD9 nsv522522 6 38239420 38315614 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705892 S 2026 1 0 BTBD9 esv1520325 6 38241837 38242106 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840161 S 2 0 1 "" HuRef nsv520567 6 38252247 38260438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672600,nssv703800,nssv688560 M 2026 0 3 BTBD9 nsv885818 6 38255723 38544295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533319 S 6533 0 1 BTBD9 MS11097 nsv885819 6 38256748 38298417 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521517 S 6533 1 0 BTBD9 SP52416 nsv520053 6 38262919 38315614 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697197 S 2026 1 0 BTBD9 nsv885820 6 38274489 38576865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560238 S 6533 1 0 BTBD9 MS24381 nsv5268 6 38301353 38309241 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3431 S 9 1 0 BTBD9 NA12878 nsv349297 6 38342331 38342381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367875 M 24 BTBD9 nsv507325 6 38460890 38466890 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622967,nssv620338 M 4 2 0 BTBD9 NA15510,NA18994 esv27105 6 38499577 38512763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13423 S 451 0 2 BTBD9 NA18909,NA19114 esv2421878 6 38499784 38510599 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5076010,essv5143473,essv5133947,essv5039202,essv5118939,essv5047370,essv5158324,essv5098440,essv5066586,essv5135477,essv5055680,essv5012679,essv5118833,essv5065995,essv5059806,essv5060008,essv5109736,essv5069551,essv5037468,essv5148649,essv5157332,essv5095219,essv5047045,essv5150843 M 1184 0 24 BTBD9 NA18859,NA18868,NA18869,NA18909,NA18933,NA19031,NA19101,NA19114,NA19115,NA19159,NA19393,NA19448,NA19451,NA19455,NA19473,NA19625,NA19700,NA19701,NA19702,NA21111,NA21611,NA21619,NA21635,NA21722 nsv441993 6 38499784 38510599 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BTBD9 nsv514356 6 38499912 38510576 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627806 S 1414 0 1 BTBD9 nsv515670 6 38503852 38508117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664323,nssv687304,nssv671725,nssv656153,nssv662029,nssv682813,nssv664931,nssv663588,nssv672333,nssv690051,nssv677929,nssv657624 M 2026 0 12 BTBD9 nsv523561 6 38503852 38514714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699342 S 2026 0 1 BTBD9 esv269996 6 38603538 38603869 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2532447,essv2527291,essv2540453,essv2565048,essv2534538,essv2532808,essv2567435,essv2569174,essv2543429,essv2556366,essv2562461,essv2555358,essv2533726,essv2531354,essv2529603,essv2575616,essv2574772,essv2530294,essv2572840,essv2545132,essv2551380 M 157 21 0 Samples from several populations that are part of the HapMap project. BTBD9 NA18505,NA18522,NA18552,NA18558,NA18561,NA18576,NA18582,NA18861,NA18870,NA18871,NA18909,NA18943,NA18944,NA18961,NA19093,NA19099,NA19138,NA19141,NA19143,NA19172,NA19257 esv27759 6 38603637 38612421 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10306 S 451 1 0 BTBD9 NA19257 esv267992 6 38641217 38641506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513357,essv2509531,essv2503643 M 157 3 0 Samples from several populations that are part of the HapMap project. BTBD9 NA06986,NA18907,NA19129 dgv1942e1 6 38696947 38819063 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20047,essv7097,essv20915,essv15102,esv99,essv3048,essv379 M 271 0 0 BTBD9,DNAH8,GLO1 NA07048,NA12801,NA18537,NA18971,NA18981,NA19129 nsv428144 6 38696947 38819063 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450740 S 62 1 0 BTBD9,DNAH8,GLO1 NA19181 nsv830642 6 38753034 38908635 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445382 S 95 0 1 DNAH8,GLO1 nsv507326 6 38764792 38770792 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620339 S 4 1 0 GLO1 NA15510 nsv830643 6 38834653 39013567 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445383 S 95 0 1 DNAH8,LOC100131047 nsv462915 6 38836120 38881271 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538973 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNAH8 HGDP00914 nsv470814 6 38836120 38898127 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544489 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNAH8 HGDP00914 nsv462916 6 38855748 38890379 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538974 S 1557 0 1 DNAH8 1780854279_A nsv5269 6 38939275 38972283 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3432 S 9 1 0 DNAH8 NA12878 nsv885821 6 38951948 39147481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584264 S 6533 1 0 DNAH8,GLP1R,LOC100131047 IS36936 nsv462918 6 38983730 39009214 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538976 S 1557 0 1 DNAH8,LOC100131047 1780854231_A nsv819570 6 38992691 38993146 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418958 S 2 0 1 DNAH8,LOC100131047 AK1 nsv349927 6 38997777 38997827 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368505 M 24 DNAH8,LOC100131047 nsv528852 6 39016493 39018353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705531 S 2026 0 1 DNAH8,LOC100131047 esv2479524 6 39029502 39031031 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207965 S 1 0 1 DNAH8 NA18507 esv2254109 6 39029991 39030687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4774323 S 1 0 1 DNAH8 NA18507 esv3083 6 39030127 39030543 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25524 S 1 0 1 Single Asian sample YH DNAH8 YH esv8343 6 39030171 39030492 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30784 S 1 0 1 DNAH8 SJK nsv823676 6 39037007 39038653 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428320 S 31 0 1 DNAH8 AK10 nsv5270 6 39050521 39082799 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3434 S 9 1 0 DNAH8 NA12878 nsv528286 6 39127481 39168456 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704856 S 2026 1 0 GLP1R nsv470815 6 39130676 39159672 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544490,nssv544491 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GLP1R HGDP00302,HGDP00978 nsv519907 6 39140393 39162990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659439,nssv705521,nssv662777 M 2026 0 3 GLP1R nsv462919 6 39158362 39170968 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538977 S 1557 0 1 GLP1R 1780854065_A nsv514357 6 39176876 39180032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627807 S 1414 0 1 C6orf64 nsv441994 6 39176890 39180010 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C6orf64 esv2422109 6 39176890 39180659 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5012448,essv5059079,essv5010697,essv5056112,essv5058447,essv5088793,essv5034685,essv5015405,essv5051385,essv5080684,essv5098054,essv5038894,essv5109238,essv5031125,essv5159999,essv5096065,essv5044276,essv5017722,essv5010589,essv5058410,essv5154749,essv5104921,essv5007773,essv5035819,essv5073638,essv5076867,essv5009523,essv5146789,essv5018432,essv5035388,essv5026646,essv5092066,essv5025955,essv5120367,essv5016311,essv5130697,essv5020188,essv5142861 M 1184 0 38 C6orf64 NA18484,NA18485,NA18486,NA18487,NA18518,NA18520,NA18862,NA18863,NA19028,NA19147,NA19189,NA19206,NA19235,NA19314,NA19347,NA19352,NA19385,NA19435,NA19712,NA20294,NA20295,NA20359,NA21308,NA21309,NA21313,NA21357,NA21362,NA21365,NA21368,NA21379,NA21400,NA21478,NA21480,NA21523,NA21525,NA21615,NA21634,NA21741 esv25413 6 39176907 39180827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12858 S 451 0 1 C6orf64 NA19147 nsv516974 6 39177246 39180012 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680943,nssv666483,nssv664240,nssv660712,nssv691884,nssv660345,nssv686750,nssv676393,nssv679602,nssv653464,nssv664859,nssv691127,nssv666801 M 2026 0 13 C6orf64 nsv830644 6 39224508 39433958 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445385 S 95 0 1 KCNK16,KCNK17,KCNK5,KIF6 nsv524717 6 39247742 39257118 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700702 S 2026 0 1 "" nsv830645 6 39335579 39516288 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445386 S 95 0 1 KCNK16,KCNK17,KIF6 nsv519606 6 39337741 39338549 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696948 S 2026 1 0 "" esv1358086 6 39356675 39356675 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846889 S 2 1 0 "" HuRef nsv885822 6 39435686 39829194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591273 S 6533 0 1 KIF6 IS38668 esv2521582 6 39458228 39459207 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383774 S 1 1 0 KIF6 NA18507 esv271295 6 39458688 39458773 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513704 S 157 1 0 Samples from several populations that are part of the HapMap project. KIF6 NA07347 nsv428145 6 39512107 39568773 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450743,nssv450741 M 62 2 0 KIF6 HGDP00449,HGDP00471 nsv885823 6 39529693 39634845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525199 S 6533 0 1 KIF6 SP56348 nsv5271 6 39628138 39661864 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8238 S 9 1 0 KIF6 NA12156 nsv508405 6 39646780 39710086 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622548 S 4 0 1 KIF6 NA18994 nsv462920 6 39652809 39696096 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538978 S 1557 0 1 KIF6 1780862310_A esv1167622 6 39844129 39844129 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038150 S 2 1 0 "" HuRef esv269615 6 39844606 39844740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509862,essv2509175 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18909 nsv509130 6 39908355 39951486 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623474 S 4 1 0 DAAM2 NA18994 nsv512877 6 39921066 39921122 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625520 S 1 1 0 DAAM2 1 nsv462921 6 39937201 39967645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538979 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DAAM2 HGDP01003 esv2649617 6 40002199 40002812 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165871 S 1 1 0 MOCS1 NA18507 nsv512878 6 40002266 40002538 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625521 S 1 1 0 MOCS1 1 nsv515601 6 40112018 40137160 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658337,nssv657852,nssv664048,nssv684171,nssv686821,nssv692858,nssv679717,nssv656266 M 2026 0 8 "" esv2500858 6 40154370 40155384 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331648 S 1 1 0 "" NA18507 esv271858 6 40154853 40155183 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565599,essv2575839,essv2540999,essv2546198,essv2542311,essv2536594,essv2544094,essv2570937,essv2556593,essv2568111,essv2545593,essv2523293,essv2532000,essv2577264,essv2570459,essv2548462,essv2521512,essv2576573,essv2550743,essv2535028,essv2554271,essv2552159,essv2520371,essv2547318,essv2529272,essv2558435,essv2564449,essv2553562,essv2559578,essv2520066,essv2564007,essv2537470,essv2528232,essv2546947,essv2530526,essv2540023,essv2556945,essv2552736,essv2532269,essv2562552,essv2569214,essv2578592,essv2558951,essv2536987,essv2538985,essv2569867,essv2527085,essv2561310,essv2544950,essv2562835,essv2538433,essv2542816,essv2540326,essv2565168,essv2534874,essv2539782,essv2549192,essv2519723,essv2559873,essv2532669,essv2529021,essv2567506,essv2541626,essv2570319,essv2535775,essv2572385,essv2567001,essv2551087,essv2569125,essv2543494,essv2556342,essv2528021,essv2562482,essv2534152,essv2573094,essv2555716,essv2566364,essv2530059,essv2574009,essv2527686,essv2555833,essv2534497,essv2531588,essv2573700,essv2543378,essv2525681,essv2529794,essv2575513,essv2575051,essv2560737,essv2560828,essv2574577,essv2568453,essv2560452,essv2548109,essv2571155,essv2545920,essv2574285,essv2551351,essv2536350,essv2537828,essv2549078,essv2533053,essv2554458,essv2547806,essv2525146,essv2563447,essv2557855 M 157 108 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12815,NA12828,NA12878,NA12891,NA12892,NA18486,NA18489,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18547,NA18550,NA18552,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18576,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18942,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18980,NA19093,NA19099,NA19102,NA19116,NA19137,NA19138,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv274503 6 40154853 40155183 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581749,essv2582739 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv1665330 6 40154887 40154887 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982883 S 2 1 0 "" HuRef esv2182581 6 40189509 40189917 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847536 S 1 0 1 "" NA18507 esv1007241 6 40189652 40189708 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576833 S 3 0 1 "" HuRef esv1549132 6 40189732 40189789 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846953 S 2 0 1 "" HuRef nsv5272 6 40190314 40212471 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8239 S 9 1 0 "" NA12156 nsv350081 6 40209982 40210051 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368659 M 24 "" esv270941 6 40278239 40278573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546246,essv2536697,essv2544015,essv2521857,essv2554248,essv2564775,essv2553905,essv2559771,essv2565422,essv2576405,essv2520180,essv2554919,essv2562021,essv2537495,essv2528608,essv2546703,essv2520826,essv2557576,essv2551881,essv2532386,essv2569334,essv2578670,essv2558830,essv2539029,essv2561716,essv2544829,essv2563085,essv2523683,essv2538314,essv2542624,essv2540600,essv2524442,essv2564830,essv2534594,essv2549576,essv2519763,essv2559777,essv2528989,essv2572341,essv2542085,essv2568902,essv2543767,essv2556327,essv2527965,essv2562423,essv2573079,essv2533524,essv2555563,essv2567134,essv2566641,essv2557648,essv2555989,essv2531567,essv2573397,essv2572094,essv2529734,essv2575496,essv2560731,essv2523994,essv2574639,essv2530240,essv2572904,essv2568811,essv2545155,essv2545955,essv2574322,essv2536019,essv2547958 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA11881,NA11920,NA11992,NA12144,NA12287,NA12751,NA12763,NA12776,NA12812,NA12814,NA12815,NA12872,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18504,NA18505,NA18508,NA18510,NA18516,NA18519,NA18523,NA18526,NA18532,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18579,NA18609,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18942,NA18944,NA18945,NA18947,NA18948,NA18953,NA18956,NA18961,NA18964,NA18973,NA19093,NA19099,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19172,NA19239,NA19240 esv273864 6 40278244 40278576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584586,essv2583611 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2558260 6 40284040 40285709 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285367 S 1 0 1 "" NA18507 esv1278701 6 40285489 40285489 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264862 S 2 1 0 "" HuRef esv24693 6 40304279 40318332 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20145 S 451 1 0 "" NA19257 nsv518791 6 40405825 40418551 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696244 S 2026 0 1 "" esv2597575 6 40442293 40443897 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237446 S 1 0 1 "" NA18507 nsv5273 6 40449512 40494536 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8240 S 9 0 1 LRFN2,TDRG1 NA12156 nsv348769 6 40473487 40476829 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367347 M 24 LRFN2 nsv519241 6 40499542 40500347 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696734 S 2026 1 0 LRFN2 esv28480 6 40542202 40544371 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14300 S 451 0 1 LRFN2 NA18523 nsv525098 6 40582919 40585151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701157 S 2026 0 1 LRFN2 nsv885824 6 40702819 40746488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527924 S 6533 0 1 "" SP81076 dgv752n27 6 40723593 40749271 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462923,nsv462922 M 1557 0 2 "" HGDP00757,HGDP01101 esv2471083 6 40730395 40731295 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240863 S 1 1 0 "" NA18507 esv24926 6 40768986 40770112 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20897 S 451 0 2 "" NA18517,NA19108 nsv517805 6 40799348 40801381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695209 S 2026 0 1 "" esv1218319 6 40813948 40813948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601931 S 2 1 0 "" HuRef nsv5274 6 40821616 40854958 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2588 S 9 1 0 "" NA18555 nsv823677 6 40823060 40825598 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425797 S 31 0 1 "" AK4 esv268971 6 40839374 40839529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542328,essv2543857,essv2577193,essv2535445,essv2520435,essv2529222,essv2537589,essv2546668,essv2538336,essv2540428,essv2524326,essv2549496,essv2569063,essv2556263,essv2528032,essv2560307,essv2545867,essv2536000 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11919,NA11992,NA12043,NA12249,NA12716,NA12749,NA12878,NA12892,NA18547,NA18552,NA18555,NA18564,NA18861,NA18871,NA18907,NA19190,NA19239 esv272893 6 40839374 40839625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582242,essv2582405,essv2583130,essv2584037,essv2584833,essv2583845 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1003608 6 40859824 40866342 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565791 S 3 0 1 "" HuRef esv25677 6 40937224 40946652 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10197 S 451 1 0 "" NA19257 esv2522496 6 40979674 40980802 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371463 S 1 1 0 "" NA18507 nsv349443 6 40980435 40980435 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368021 M 24 "" esv270206 6 41034778 41035102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575887,essv2546495,essv2526054,essv2570861,essv2556467,essv2545272,essv2547511,essv2577823,essv2554873,essv2530558,essv2528425,essv2546829,essv2578833,essv2550241,essv2539181,essv2527304,essv2544977,essv2539854,essv2567808,essv2553339,essv2535589,essv2533993,essv2572694,essv2560384,essv2545808,essv2574161,essv2533241,essv2563143,essv2558034 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA10851,NA11830,NA11881,NA11918,NA11993,NA11994,NA12003,NA12717,NA12761,NA12872,NA12873,NA12891,NA12892,NA18510,NA18511,NA18519,NA18522,NA18526,NA18563,NA18577,NA18605,NA18608,NA18916,NA19143,NA19190,NA19239,NA19240 esv274611 6 41034778 41035102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581951,essv2582584,essv2582911,essv2584729,essv2583419 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 nsv5275 6 41057468 41069207 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8241 S 9 0 1 "" NA12156 nsv526577 6 41113480 41137320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702895 S 2026 0 1 APOBEC2,TSPO2,UNC5CL nsv5277 6 41187733 41221898 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8242 S 9 1 0 LOC221442 NA12156 nsv819921 6 41214971 41216166 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419195 S 2 0 1 LOC221442 AK1 nsv482095 6 41225322 41230048 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558456 S 1 0 1 TREML1 KB1 esv994929 6 41258038 41266530 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565212 S 3 0 1 TREML2 HuRef nsv823678 6 41291168 41293669 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433130 S 31 0 1 TREML3 NA18592 esv1058846 6 41294978 41294978 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996102 S 2 1 0 "" HuRef esv1644659 6 41295009 41295009 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4132019 S 2 1 0 "" HuRef esv1552869 6 41295018 41295018 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041194 S 2 1 0 "" HuRef esv1663341 6 41295037 41295037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851862 S 2 1 0 "" HuRef nsv823679 6 41304449 41305556 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433141 S 31 0 1 TREML4 NA18592 nsv885825 6 41387766 41401027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558016 S 6533 0 1 "" MS23057 nsv515617 6 41398436 41401027 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670766,nssv691273,nssv706007,nssv657462,nssv662090,nssv665398,nssv664115 M 2026 3 4 "" dgv6836n71 6 41413053 41478475 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885829,nsv885826,nsv885828,nsv885827 M 6533 4 0 NCR2 IS40616,IS41809,MS10094,MS15871 esv997444 6 41487604 41499448 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565290 S 3 0 1 "" HuRef esv23562 6 41503303 41505463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20882,esv21163 M 451 0 2 "" NA07045,NA18907 esv2513760 6 41511388 41512703 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361834 S 1 0 1 "" NA18507 esv2404558 6 41511862 41512549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677324 S 1 0 1 "" NA18507 esv8526 6 41511992 41512418 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30967 S 1 0 1 "" SJK esv4862 6 41512000 41512419 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27303 S 1 0 1 Single Asian sample YH "" YH esv28388 6 41622147 41622871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19889 S 451 0 1 FOXP4 NA07045 nsv885830 6 41639201 41741250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530548 S 6533 0 1 FOXP4,MDFI,MIR4641 MS10311 nsv819316 6 41674864 41676094 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419206 S 2 1 0 FOXP4 AK1 dgv1943e1 6 41696767 41807431 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv667,essv1628 M 271 0 0 MDFI,TFEB NA18942 dgv1944e1 6 41706502 41749467 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8060,essv13958 M 271 0 0 MDFI NA19160,NA19161 esv2109973 6 41719057 41719494 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998301 S 1 0 1 MDFI NA18507 nsv519925 6 41727028 41733588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694354 S 2026 0 1 MDFI dgv1945e1 6 41727028 41737704 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10977,essv8571 M 271 0 0 MDFI NA19092,NA19130 dgv6837n71 6 41735041 41792368 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885832,nsv885831 M 6533 0 2 TFEB MS10123,MS16153 nsv528949 6 41751364 41752419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705643 S 2026 0 1 "" nsv526309 6 41792368 41792623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702592 S 2026 0 1 TFEB nsv7893 6 41807597 41812168 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13301 S 31 1 0 Samples from several populations that are part of the HapMap project. TFEB NA12872 esv29515 6 41809652 41811565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16410 S 451 0 2 TFEB NA07045,NA18907 esv2211967 6 41813705 41814163 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654168 S 1 0 1 PGC NA18507 nsv885833 6 41846136 41889961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509864 S 6533 0 1 FRS3,PRICKLE4,TOMM6,USP49 SP54956 nsv5278 6 41982366 41983901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv546 S 9 1 0 MED20 NA19240 nsv830646 6 41991766 42172189 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445387 S 95 0 1 BYSL,CCND3,MED20,TAF8 nsv526116 6 42032256 42035791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702366 S 2026 0 1 CCND3 nsv885834 6 42049958 42107103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600522 S 6533 0 1 CCND3 IS41894 esv2544548 6 42060646 42062265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231391 S 1 0 1 CCND3 NA18507 esv2301238 6 42061139 42061846 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4997696 S 1 0 1 CCND3 NA18507 esv1427717 6 42061343 42061658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633080 S 2 0 1 CCND3 HuRef nsv527131 6 42103275 42105904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703518 S 2026 0 1 CCND3 nsv830649 6 42123312 42307413 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445389,nssv1445388 M 95 0 2 C6orf132,CCND3,GUCA1A,GUCA1B,MRPS10,TAF8,TRERF1 dgv753n27 6 42160729 42207349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462926,nsv462925 M 1557 0 2 C6orf132 NINDS_65,NINDS_70 nsv885835 6 42169711 42225344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573802 S 6533 0 1 C6orf132 IS33504 nsv510026 6 42253010 42259010 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624000 S 4 0 1 GUCA1A,GUCA1B NA18994 esv6714 6 42294054 42294595 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29155 S 1 0 0 "" SJK esv2226832 6 42338029 42338435 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605052 S 1 0 1 TRERF1 NA18507 nsv5279 6 42474681 42505880 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4604 S 9 0 1 TRERF1 NA19129 dgv6838n71 6 42558660 42719850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885836,nsv885837 M 6533 0 2 UBR2 IS30883,IS31563 esv273491 6 42590257 42591005 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581437,essv2581299 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv526599 6 42604472 42679785 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702918 S 2026 1 0 UBR2 nsv348569 6 42608569 42608880 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367147 M 24 "" nsv524011 6 42614077 42769382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699871 S 2026 0 1 UBR2 nsv885838 6 42616415 42767957 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566158 S 6533 0 1 UBR2 IS30597 esv2233433 6 42677461 42677948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605128 S 1 0 1 UBR2 NA18507 nsv518847 6 42679785 42749682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696300 S 2026 0 1 UBR2 nsv350088 6 42690143 42690143 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368666 M 24 UBR2 nsv5280 6 42697160 42711496 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2723 S 9 1 0 UBR2 NA18555 esv272665 6 42734194 42734530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580750,essv2579683 M 7 2 0 Samples from several populations that are part of the HapMap project. UBR2 NA19238,NA19240 nsv520653 6 42748704 42749682 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683828,nssv673593 M 2026 2 0 UBR2 nsv830650 6 42766209 42949116 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445390 S 95 0 1 ATP6V0CP3,KIAA0240,PRPH2,TBCC,UBR2 nsv507327 6 42771348 42777348 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620340 S 4 1 0 PRPH2 NA15510 nsv519124 6 42785731 42791039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696601 S 2026 0 1 PRPH2 nsv524764 6 42830268 42831787 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700755 S 2026 0 1 "" nsv433480 6 42910716 42920266 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463361 S 9 0 1 Samples from several populations that are part of the HapMap project. KIAA0240 NA18956 nsv830651 6 42921279 43076587 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445391 S 95 0 1 C6orf226,CNPY3,GNMT,KIAA0240,PEX6,PPP2R5D,PTCRA,RPL7L1 dgv1044n67 6 42945622 42947359 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823680,nsv823681 M 31 0 8 "" AK16,NA18537,NA18552,NA18564,NA18968,NA18969,NA18972,NA18999 esv1622905 6 42995531 42995531 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725646 S 2 1 0 PTCRA HuRef nsv462927 6 43023898 43186434 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538984 S 1557 0 1 CUL7,GNMT,KLC4,KLHDC3,MEA1,MRPL2,PEX6,PPP2R5D,PTK7,RRP36 NINDS_266 nsv462929 6 43066878 43078728 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538986 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PPP2R5D HGDP00148 nsv462930 6 43078485 43186434 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538987 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUL7,KLC4,KLHDC3,MEA1,MRPL2,PPP2R5D,PTK7,RRP36 HGDP01172 nsv885839 6 43089029 43103189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509865 S 6533 0 1 KLHDC3,MEA1,RRP36 SP54956 esv2446917 6 43143167 43144812 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388882 S 1 0 1 KLC4 NA18507 nsv437509 6 43146041 43191752 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467390 S 60 0 1 Samples from several populations that are part of the HapMap project. KLC4,PTK7 NA18521 esv275497 6 43146672 43147383 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585114,essv2585703 M 1250 1 1 KLC4 nsv462932 6 43173891 43222680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538988 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTK7 HGDP00696 nsv521730 6 43197407 43292110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694490 S 2026 0 1 CUL9,PTK7,SRF nsv819840 6 43255034 43256584 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419282 S 2 1 0 SRF AK1 dgv6839n71 6 43296918 43367065 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885840,nsv885841 M 6533 0 2 C6orf108,CUL9,TTBK1 IS39363,SP54956 dgv6840n71 6 43321455 43389745 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885842,nsv885843 M 6533 0 2 CRIP3,SLC22A7,TTBK1 MS16153,MS18276 nsv517442 6 43352692 43353352 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679410,nssv660742,nssv663764,nssv683148,nssv692950,nssv680923,nssv655676,nssv658686,nssv677033,nssv689877,nssv657214,nssv686962,nssv658696,nssv666056,nssv693298,nssv679328,nssv665050,nssv687730,nssv675851,nssv689025,nssv675453,nssv686170,nssv676023,nssv677514,nssv665675,nssv657028,nssv652029,nssv668978,nssv681748,nssv654651 M 2026 0 30 TTBK1 nsv525187 6 43352692 43367065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701265 S 2026 0 1 TTBK1 esv6354 6 43369996 43370064 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28795 S 1 1 0 "" SJK esv268471 6 43388851 43388936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519102,essv2513573 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA19141 nsv348832 6 43427903 43427903 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367410 M 24 ZNF318 esv2629858 6 43438773 43440219 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163749 S 1 0 1 ZNF318 NA18507 esv26917 6 43444511 43445620 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16204 S 451 0 2 ZNF318 NA07045,NA18907 dgv6841n71 6 43477734 43593261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885845,nsv885844 M 6533 0 2 ABCC10,C6orf154,DLK2,POLR1C,TJAP1,YIPF3 MS10311,MS17208 esv2344370 6 43493766 43494223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759823 S 1 0 1 "" NA18507 esv2830 6 43493862 43494271 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25271 S 1 0 1 Single Asian sample YH "" YH esv1257127 6 43493954 43494051 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206997 S 2 0 1 "" HuRef nsv349211 6 43493995 43494063 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367789 M 24 "" nsv818414 6 43583452 43604640 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417997 S 112 1 0 C6orf154,POLR1C,XPO5,YIPF3 NA07357 dgv6842n71 6 43644379 43662513 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885846,nsv885847 M 6533 0 4 POLH,XPO5 SP54956,SP55021,SP56223,SP57469 nsv5281 6 43686805 43731620 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8243 S 9 0 1 GTPBP2,MAD2L1BP,POLH,RSPH9 NA12156 esv2451880 6 43813442 43814188 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303035 S 1 1 0 "" NA18507 nsv885848 6 43840647 43861029 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519405 S 6533 0 1 VEGFA SP81015 nsv823682 6 43845963 43846991 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441102 S 31 1 0 VEGFA NA18969 nsv885849 6 43854401 43858529 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508861 S 6533 1 0 VEGFA SP54650 nsv885850 6 43855555 43859015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516591,nssv1519122 M 6533 0 2 VEGFA SP56874,SP80957 nsv510027 6 43919129 43925129 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618234,nssv621283 M 4 0 2 "" CHM,NA15510 nsv521642 6 43940155 43942229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698262 S 2026 0 1 "" nsv818415 6 43940155 43942229 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417029,nssv1417027 M 112 0 2 "" NA06994,NA07029 nsv509131 6 43984487 44146937 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619450,nssv619449,nssv623476 M 4 2 0 C6orf223,LOC100132354 NA10860,NA18994 esv275447 6 43994621 43995915 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585287,essv2585406 M 1250 1 1 LOC100132354 esv269600 6 44003432 44003765 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571806,essv2546485,essv2522978,essv2577378,essv2548299,essv2550286,essv2576334,essv2519971,essv2554861,essv2537524,essv2528602,essv2546798,essv2577005,essv2571236,essv2547647 M 157 15 0 Samples from several populations that are part of the HapMap project. LOC100132354 NA07347,NA11840,NA11881,NA11931,NA12043,NA12045,NA12234,NA12814,NA12815,NA12872,NA12878,NA12891,NA12892,NA18970,NA19238 esv274315 6 44003437 44003764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581919,essv2582861,essv2584393 M 7 3 0 Samples from several populations that are part of the HapMap project. LOC100132354 NA12878,NA12892,NA19239 esv1595489 6 44003465 44003465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3840668 S 2 1 0 LOC100132354 HuRef esv1004616 6 44037102 44040447 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565660 S 3 1 0 "" HuRef nsv512879 6 44039213 44039724 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625523 S 1 1 0 "" 1 nsv349704 6 44039421 44039541 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368282 M 24 "" esv1319683 6 44039544 44039544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726912 S 2 1 0 "" HuRef nsv462934 6 44064593 44115424 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538989 S 1557 0 1 C6orf223 NINDS_55 esv29444 6 44086727 44087522 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9909 S 451 1 0 "" NA18858 esv29572 6 44116454 44119574 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19546 S 451 2 0 "" NA12044,NA18907 esv8057 6 44120376 44120643 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30498 S 1 0 1 "" SJK nsv462935 6 44154121 44225585 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538990 S 1557 0 1 MRPL14,TMEM63B NINDS_259 nsv509132 6 44199436 44260775 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623477 S 4 1 0 CAPN11,MRPL14,TMEM63B NA18994 esv2292197 6 44234502 44234906 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905883 S 1 0 1 CAPN11 NA18507 nsv510028 6 44257775 44263775 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621284,nssv618235 M 4 0 2 CAPN11 CHM,NA15510 esv1646210 6 44257790 44257882 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3682579 S 2 0 1 CAPN11 HuRef esv1158501 6 44257922 44258000 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647975 S 2 0 1 CAPN11 HuRef nsv526408 6 44264448 44271602 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702708 S 2026 1 0 "" nsv885851 6 44286449 44348537 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549706 S 6533 0 1 HSP90AB1,MIR4647,NFKBIE,SLC29A1,SLC35B2,TMEM151B MS18276 nsv5282 6 44292853 44334869 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10494,nssv8244,nssv3435 M 9 3 0 HSP90AB1,MIR4647,NFKBIE,SLC29A1,SLC35B2 NA12156,NA12878,NA18956 nsv885852 6 44293879 44330696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546612 S 6533 0 1 HSP90AB1,MIR4647,SLC29A1,SLC35B2 MS17208 nsv462936 6 44299898 44390294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538991 S 1557 0 1 AARS2,HSP90AB1,MIR4647,NFKBIE,SLC29A1,SLC35B2,TCTE1,TMEM151B 1780862300_A dgv6843n71 6 44305159 44382775 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885854,nsv885853 M 6533 0 2 AARS2,HSP90AB1,MIR4647,NFKBIE,SLC29A1,SLC35B2,TCTE1,TMEM151B IS37646,IS39233 nsv524398 6 44308931 44361743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700316 S 2026 0 1 HSP90AB1,MIR4647,NFKBIE,SLC29A1,SLC35B2,TCTE1,TMEM151B dgv6844n71 6 44330988 44340898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885855,nsv885856 M 6533 0 2 NFKBIE,SLC35B2 SP54956,SP54988 nsv885857 6 44330988 44358143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511369,nssv1505961 M 6533 0 2 NFKBIE,SLC35B2,TCTE1,TMEM151B SP54043,SP55021 nsv522456 6 44389694 44396825 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705819 S 2026 1 0 "" nsv516456 6 44390294 44406287 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684444,nssv668519 M 2026 2 0 "" nsv512880 6 44394181 44395260 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625524 S 1 1 0 "" 1 esv2591492 6 44394900 44395525 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393101 S 1 1 0 "" NA18507 esv1170898 6 44395302 44395302 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070364 S 2 1 0 "" HuRef esv1198309 6 44466742 44466806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826513 S 2 0 1 CDC5L HuRef nsv885858 6 44493419 44529218 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582344,nssv1569543,nssv1547900,nssv1570293,nssv1569416,nssv1551324,nssv1566776,nssv1569466,nssv1594598,nssv1591705,nssv1567718,nssv1567470,nssv1549446,nssv1568590 M 6533 1 13 CDC5L,MIR4642 IS30923,IS31090,IS31142,IS31307,IS31576,IS31581,IS31617,IS31875,IS35911,IS39011,IS39944,MS17611,MS18240,MS18847 nsv885859 6 44493419 44530444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565944,nssv1569186 M 6533 0 2 CDC5L,MIR4642 IS30539,IS31543 nsv517370 6 44493419 44530667 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667299,nssv665399,nssv669815,nssv690020,nssv678993,nssv663681,nssv669570,nssv651833,nssv688561,nssv695531,nssv660040,nssv676648,nssv676701,nssv689134 M 2026 8 6 CDC5L,MIR4642 nsv885860 6 44536484 44562311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546613 S 6533 0 1 "" MS17208 esv269099 6 44563076 44564758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510965,essv2505504,essv2513164,essv2503415,essv2507865,essv2497930,essv2502362,essv2495212,essv2503981 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11831,NA12154,NA12249,NA12716,NA18564,NA18945,NA18948,NA18964 nsv5283 6 44613960 44625109 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv547 S 9 0 1 "" NA19240 esv22899 6 44619792 44623506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14026 S 451 0 2 "" NA18909,NA19240 nsv514358 6 44619848 44623088 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627808 S 1414 0 1 "" esv2421578 6 44621319 44622929 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5091934,essv5077449,essv5009124,essv5015896,essv5059958,essv5133152,essv5071761,essv5051015,essv5136072,essv5106881,essv5112467,essv5061137,essv5097869,essv5070831,essv5151783,essv5094408,essv5119160,essv5055554,essv5102950,essv5147926,essv5007563,essv5132678 M 1184 0 22 "" NA18874,NA18875,NA18909,NA18911,NA18924,NA18925,NA19116,NA19119,NA19120,NA19181,NA19184,NA19186,NA19239,NA19240,NA19327,NA19835,NA20363,NA20364,NA21307,NA21440,NA21442,NA21717 nsv441995 6 44621323 44622929 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv528484 6 44628429 44632151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705087 S 2026 0 1 "" esv2421801 6 44631011 44632461 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5155510,essv5006755,essv5144328,essv5077792,essv5088084,essv5101447,essv5141650,essv5143483,essv5031443,essv5152539,essv5101483,essv5033134,essv5092195,essv5124806,essv5158487,essv5080453,essv5029626,essv5055592,essv5101151,essv5059490,essv5066746,essv5118937,essv5112062,essv5058982,essv5091733,essv5045241,essv5108769,essv5018552,essv5142419,essv5144030 M 1184 0 30 "" NA07345,NA18868,NA18869,NA19102,NA19103,NA19141,NA19171,NA19173,NA19210,NA19211,NA19398,NA19404,NA20276,NA21336,NA21399,NA21401,NA21402,NA21417,NA21425,NA21435,NA21583,NA21613,NA21617,NA21648,NA21678,NA21686,NA21738,NA21768,NA21776,NA21825 nsv516165 6 44631569 44632151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674319,nssv670492,nssv663528,nssv662778,nssv684654,nssv681346,nssv692268,nssv693074,nssv685060,nssv673722,nssv690461,nssv690416,nssv666569,nssv663502 M 2026 0 14 "" nsv527194 6 44631569 44642375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703592 S 2026 0 1 "" nsv5284 6 44668389 44696997 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10495 S 9 1 0 "" NA18956 esv2017503 6 44721267 44721965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572512 S 1 0 1 "" NA18507 esv1007083 6 44721472 44721787 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584950 S 3 0 1 "" HuRef esv1634776 6 44721476 44721792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103557 S 2 0 1 "" HuRef nsv349354 6 44721477 44721792 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367932 M 24 "" esv270864 6 44792024 44792359 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570981,essv2545461,essv2554912,essv2530819,essv2575113,essv2537879 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11993,NA12003,NA12872,NA12873,NA19102 esv25571 6 44800170 44801086 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17149 S 451 1 0 "" NA07045 nsv5285 6 44861051 44896170 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv548 S 9 1 0 "" NA19240 esv269000 6 44865373 44865733 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506354,essv2511635 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18566,NA18940 esv272253 6 44906567 44906927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579041,essv2579668 M 7 2 0 Samples from several populations that are part of the HapMap project. SUPT3H NA19239,NA19240 esv269908 6 44906575 44906920 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521285,essv2576629,essv2540110,essv2556980,essv2551910,essv2562633,essv2578709,essv2538996,essv2561502,essv2540329,essv2524437,essv2560082,essv2530934,essv2541581,essv2559380,essv2569087,essv2534080,essv2573390,essv2538697,essv2572699,essv2568572,essv2546136,essv2574313 M 157 23 0 Samples from several populations that are part of the HapMap project. SUPT3H NA11894,NA12154,NA18489,NA18501,NA18504,NA18507,NA18510,NA18519,NA18523,NA18552,NA18555,NA18570,NA18573,NA18592,NA18638,NA18861,NA18916,NA18964,NA19108,NA19143,NA19147,NA19239,NA19240 esv1627992 6 44906599 44906599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917798 S 2 1 0 SUPT3H HuRef esv2380124 6 44910985 44911420 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577967 S 1 0 1 SUPT3H NA18507 dgv6845n71 6 44945334 45191944 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885862,nsv885861,nsv885863 M 6533 0 4 SUPT3H IS38400,MS23472,SP50585,SP54885 nsv5286 6 44973268 45017893 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8245 S 9 0 1 SUPT3H NA12156 dgv1946e1 6 44987769 45164736 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv505,essv5275 M 271 0 0 SUPT3H NA18624 nsv885864 6 44998738 45306774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581388 S 6533 0 1 MIR586,SUPT3H IS35572 esv2516025 6 45006930 45008499 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281612 S 1 0 1 SUPT3H NA18507 nsv462938 6 45017493 45116757 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538992 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SUPT3H HGDP00491 nsv470817 6 45017493 45116757 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544492 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SUPT3H HGDP00491 esv2554212 6 45041729 45043253 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286013 S 1 0 1 SUPT3H NA18507 essv2555 6 45061736 45097497 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SUPT3H NA18974 nsv885865 6 45120201 45210003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517972 S 6533 0 1 SUPT3H SP57418 nsv5288 6 45133973 45165270 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10496 S 9 1 0 SUPT3H NA18956 esv267477 6 45146974 45147059 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514533 S 157 1 0 Samples from several populations that are part of the HapMap project. SUPT3H NA11840 nsv528130 6 45164064 45191944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704675 S 2026 0 1 SUPT3H nsv830652 6 45295445 45436961 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445392 S 95 0 1 RUNX2,SUPT3H esv267663 6 45368417 45368502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514671,essv2516818,essv2514124,essv2515446,essv2514998,essv2516556,essv2515627,essv2517282,essv2519033 M 157 9 0 Samples from several populations that are part of the HapMap project. SUPT3H NA11840,NA11881,NA12043,NA12249,NA12812,NA12814,NA12815,NA18970,NA19141 esv1738028 6 45368457 45368457 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244783 S 2 1 0 SUPT3H HuRef esv2476554 6 45416210 45417747 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268859 S 1 0 1 RUNX2,SUPT3H NA18507 esv270815 6 45433768 45439866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494353,essv2502946,essv2500973,essv2513449,essv2495496 M 157 5 0 Samples from several populations that are part of the HapMap project. RUNX2,SUPT3H NA18502,NA18507,NA18856,NA18907,NA18916 nsv527552 6 45455622 45457487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704013 S 2026 0 1 RUNX2 nsv462940 6 45640192 45653953 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538994 S 1557 0 1 "" 1780862378_A esv2435580 6 45718198 45719197 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260928 S 1 1 0 "" NA18507 esv989101 6 45798006 45800382 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565195 S 3 0 1 "" HuRef esv5401 6 45806565 45806816 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27842 S 1 0 1 Single Asian sample YH "" YH esv24134 6 45875577 45877406 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11888,esv12118 M 451 11 0 "" NA07037,NA11894,NA12828,NA18511,NA18517,NA18523,NA18916,NA19108,NA19114,NA19190,NA19225 nsv885866 6 45933222 45971804 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537794 S 6533 1 0 "" MS13362 nsv528105 6 45934617 45948582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704646 S 2026 0 1 "" esv268129 6 45943246 45943491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512607,essv2510622,essv2504297,essv2505803,essv2506436,essv2498976,essv2510953,essv2497502,essv2496944,essv2499710 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18505,NA18861,NA19108,NA19114,NA19116,NA19147,NA19190,NA19225 esv273765 6 45960594 45960779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580200,essv2580287,essv2580543,essv2579307,essv2579682 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv271456 6 45960665 45960793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510280,essv2510132,essv2503210,essv2506756,essv2511469,essv2511187,essv2510299,essv2507766,essv2508835,essv2500293,essv2512481,essv2510650,essv2504101,essv2509936,essv2496198,essv2508721,essv2503271,essv2497168,essv2507830,essv2511319,essv2494492,essv2500066,essv2508094,essv2510055,essv2499272,essv2501589,essv2505849,essv2507165,essv2513316,essv2507378,essv2495695,essv2497939,essv2503457,essv2512311,essv2493098,essv2505475,essv2495185,essv2512803,essv2505643,essv2501465,essv2504599,essv2497506,essv2499607,essv2512058,essv2501950,essv2498131,essv2502168,essv2495757,essv2495045 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA10851,NA11829,NA11881,NA11918,NA11920,NA11931,NA12414,NA12751,NA12878,NA12891,NA18489,NA18501,NA18505,NA18508,NA18511,NA18532,NA18542,NA18552,NA18564,NA18570,NA18572,NA18573,NA18579,NA18593,NA18605,NA18608,NA18861,NA18870,NA18907,NA18912,NA18916,NA18945,NA18947,NA18949,NA18951,NA18952,NA18964,NA18980,NA19005,NA19093,NA19099,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv1000760 6 45960689 45960689 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570957 S 3 1 0 "" HuRef dgv1947e1 6 45993620 45995399 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5769,esv1406 M 271 0 0 CLIC5 NA18540 nsv517891 6 46007801 46023066 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695299 S 2026 1 0 CLIC5 esv273799 6 46041992 46048058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580628 S 7 1 0 Samples from several populations that are part of the HapMap project. CLIC5 NA19238 nsv885867 6 46044182 46090935 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537795 S 6533 1 0 CLIC5 MS13362 esv2585595 6 46074871 46076302 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352497 S 1 0 1 CLIC5 NA18507 esv2367588 6 46075231 46075958 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643259 S 1 0 1 CLIC5 NA18507 esv4021 6 46075366 46075835 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26462 S 1 0 1 Single Asian sample YH CLIC5 YH nsv349891 6 46075418 46075744 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368469 M 24 CLIC5 esv1008384 6 46075421 46076160 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563856 S 3 0 1 CLIC5 HuRef esv1256091 6 46075434 46075761 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350784 S 2 0 1 CLIC5 HuRef nsv830653 6 46385532 46542950 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445393 S 95 1 0 RCAN2 esv270581 6 46386219 46386554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556916,essv2539005,essv2561703,essv2542127,essv2543742,essv2575520,essv2560872,essv2530391,essv2572688,essv2551444 M 157 10 0 Samples from several populations that are part of the HapMap project. RCAN2 NA18501,NA18519,NA18523,NA18856,NA18870,NA19099,NA19137,NA19141,NA19143,NA19257 esv23854 6 46412203 46415579 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19534 S 451 2 0 "" NA12878,NA19108 nsv885868 6 46678815 46997273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540837 S 6533 1 0 CYP39A1,GPR116,LOC100287718,MEP1A,PLA2G7,SLC25A27,TDRD6 MS15050 nsv348640 6 46709554 46715031 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367218 M 24 CYP39A1 nsv523148 6 46777895 46780902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698856 S 2026 0 1 PLA2G7,TDRD6 nsv885869 6 46795890 46813953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517747 S 6533 0 1 PLA2G7 SP57367 nsv885870 6 46804800 46821764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503515 S 6533 0 1 PLA2G7 SP52077 nsv428147 6 46808141 46999562 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450745 S 62 1 0 GPR116,LOC100287718,MEP1A,PLA2G7 NA19257 dgv1948e1 6 46808141 47036030 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15460,essv6151,essv4841,essv2056,essv5372,essv24295,esv27,essv12547,essv23907,essv3403 M 271 0 0 GPR116,LOC100287718,MEP1A,PLA2G7 NA10856,NA12814,NA18505,NA18532,NA18540,NA18563,NA18945,NA18949,NA19098 nsv7894 6 46810648 46812822 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14557 S 31 0 1 Samples from several populations that are part of the HapMap project. PLA2G7 NA11830 esv7785 6 46817403 46817501 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30226 S 1 1 0 "" SJK nsv830654 6 46830857 47013865 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445394 S 95 1 0 GPR116,LOC100287718,MEP1A esv1271741 6 46855171 46855171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282783 S 2 1 0 "" HuRef esv2535765 6 46899589 46901146 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291641 S 1 0 1 MEP1A NA18507 esv1387664 6 46900590 46900664 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818938 S 2 0 1 MEP1A HuRef esv24845 6 46903506 46939935 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16845 S 451 3 0 GPR116,MEP1A NA12878,NA18502,NA18505 nsv7895 6 46904923 46933901 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14297 S 31 1 0 Samples from several populations that are part of the HapMap project. GPR116,MEP1A NA18563 nsv823683 6 46910125 46930607 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436662 S 31 1 0 GPR116,MEP1A NA18542 nsv823684 6 46914880 46917063 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440386 S 31 1 0 MEP1A NA18564 esv996927 6 46945310 46947262 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564609 S 3 0 1 GPR116 HuRef nsv521031 6 46997273 47011707 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697744 S 2026 1 0 GPR116 nsv885871 6 47038849 47333605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540838 S 6533 1 0 GPR110,TNFRSF21 MS15050 nsv885872 6 47061027 47180196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512983 S 6533 1 0 GPR110 SP55662 esv2581778 6 47199433 47201193 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380785 S 1 0 1 "" NA18507 dgv6846n71 6 47239133 47302576 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885874,nsv885876,nsv885875,nsv885873 M 6533 0 14 "" MS10127,MS10430,MS10968,MS11181,MS13230,MS13932,MS16265,MS16947,MS18080,MS18116,MS20583,MS22863,MS24888,MS25589 nsv5289 6 47272170 47304150 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10497 S 9 1 0 "" NA18956 esv267438 6 47372509 47372674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502849,essv2496300,essv2498427,essv2495614,essv2503496,essv2502461,essv2502709 M 157 7 0 Samples from several populations that are part of the HapMap project. TNFRSF21 NA12156,NA18511,NA18858,NA18916,NA18947,NA18948,NA18965 esv1939441 6 47387897 47388398 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789994 S 1 0 1 "" NA18507 esv4092 6 47388004 47388261 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26533 S 1 0 1 Single Asian sample YH "" YH nsv471637 6 47414986 47569358 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549639,nssv549636,nssv549638,nssv549637,nssv549640 M 48 1 4 CD2AP JK776,NA10976,NA10979,NA15732,NA17020 esv268680 6 47420713 47421039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576086,essv2536431,essv2556762,essv2545625,essv2531917,essv2576746,essv2550770,essv2535185,essv2554175,essv2547319,essv2564644,essv2553828,essv2559713,essv2520206,essv2564066,essv2555140,essv2530547,essv2552624,essv2569477,essv2550138,essv2540614,essv2564932,essv2561038,essv2559979,essv2566712,essv2528118,essv2578204,essv2529878,essv2531495,essv2524035,essv2568478,essv2560456,essv2545872,essv2574261,essv2536130,essv2537870,essv2548698,essv2533403,essv2524903,essv2563313 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10847,NA11830,NA11920,NA11994,NA12003,NA12006,NA12154,NA12155,NA12249,NA12287,NA12717,NA12751,NA12763,NA12776,NA12815,NA12828,NA12872,NA12873,NA18502,NA18508,NA18511,NA18552,NA18558,NA18562,NA18570,NA18853,NA18907,NA18940,NA18949,NA18961,NA19129,NA19147,NA19190,NA19239,NA19240 esv273843 6 47420713 47421039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582397,essv2583072,essv2584695,essv2583603 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19239,NA19240 nsv7896 6 47425978 47427964 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15608,nssv16453 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18504 esv270087 6 47445846 47446192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496416,essv2498395,essv2505697,essv2509255,essv2501328 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18858,NA18861,NA18909,NA19093 nsv526028 6 47455668 47456409 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702259 S 2026 1 0 "" esv3835 6 47458184 47458670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26276 S 1 0 1 Single Asian sample YH "" YH nsv830655 6 47483221 47671273 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445396 S 95 1 0 CD2AP nsv7897 6 47524623 47527236 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15882 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv5290 6 47527830 47566601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4913,nssv11125,nssv2589 M 9 3 0 CD2AP NA15510,NA18555,NA19129 esv990993 6 47542192 47543819 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565188 S 3 1 0 "" HuRef nsv819695 6 47620405 47630725 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418592 S 2 1 0 CD2AP AK1 nsv511330 6 47665944 47684928 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625566 S 1 0 1 CD2AP 1 nsv511881 6 47672305 47674876 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624414 S 1 0 1 CD2AP 1 esv23523 6 47672699 47674858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11278,esv18794 M 451 0 2 CD2AP NA11995,NA12287 esv26618 6 47730229 47760830 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16308,esv14203 M 451 2 0 GPR111 NA18907,NA19108 esv2369895 6 47739281 47739728 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570623 S 1 0 1 GPR111 NA18507 esv1092036 6 47739497 47739551 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3851037 S 2 0 1 GPR111 HuRef nsv350137 6 47739498 47739548 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368715 M 24 GPR111 nsv518371 6 47754707 47766586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695798 S 2026 0 1 GPR111 nsv507328 6 47790095 47796095 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621835,nssv622968,nssv617704 M 4 3 0 GPR115 CHM,NA10860,NA18994 dgv1949e1 6 47798026 47814999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1275,essv12053 M 271 0 0 "" NA19238 esv274469 6 47816191 47816531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581358 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv270579 6 47816198 47816528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526062,essv2542496,essv2536753,essv2522994,essv2556592,essv2545556,essv2523141,essv2570518,essv2550851,essv2525432,essv2535342,essv2520408,essv2565558,essv2520214,essv2564219,essv2530579,essv2537424,essv2557513,essv2551925,essv2569456,essv2562856,essv2523859,essv2552893,essv2541413,essv2542705,essv2540468,essv2524643,essv2565079,essv2534580,essv2560979,essv2539524,essv2549552,essv2519664,essv2559832,essv2566178,essv2531094,essv2532845,essv2528730,essv2567624,essv2572250,essv2559343,essv2566854,essv2542137,essv2543517,essv2527762,essv2539492,essv2573128,essv2533680,essv2566597,essv2573807,essv2527582,essv2534444,essv2522387,essv2531600,essv2573654,essv2543186,essv2577186,essv2525809,essv2538574,essv2524074,essv2560420,essv2533365,essv2524885 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11918,NA11919,NA11920,NA11931,NA11994,NA12003,NA12004,NA12044,NA12155,NA12156,NA12249,NA12716,NA12812,NA12815,NA12828,NA12873,NA12878,NA18499,NA18504,NA18508,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18579,NA18582,NA18609,NA18638,NA18853,NA18856,NA18870,NA18907,NA18912,NA18942,NA18944,NA18948,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19108,NA19129,NA19190 esv269317 6 47886156 47886515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496855,essv2510539,essv2494371,essv2502948,essv2509798,essv2496174,essv2494730,essv2509099,essv2493998,essv2513356,essv2504773,essv2499023,essv2498707,essv2510421,essv2497088,essv2511480 M 157 16 0 Samples from several populations that are part of the HapMap project. OPN5 NA07346,NA18498,NA18501,NA18502,NA18507,NA18508,NA18511,NA18519,NA18522,NA18871,NA18907,NA19099,NA19114,NA19138,NA19172,NA19190 nsv830656 6 47988108 48136638 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445398,nssv1445397,nssv1445399 M 95 3 0 C6orf138 esv21548 6 48014704 48016059 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20588 S 451 0 1 C6orf138 NA18909 esv22426 6 48090538 48092574 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14864 S 451 0 3 C6orf138 NA18523,NA18909,NA19225 nsv525003 6 48176725 48176833 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701037 S 2026 0 1 "" esv25004 6 48204866 48208812 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15142 S 451 0 1 "" NA18916 nsv885877 6 48225644 48734889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595984,nssv1578806 M 6533 0 2 "" IS34909,IS40380 esv2653263 6 48232838 48234541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240263 S 1 0 1 "" NA18507 nsv5291 6 48454532 48487977 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3436 S 9 1 0 "" NA12878 esv27660 6 48457890 48473305 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18430 S 451 1 0 "" NA19257 nsv830657 6 48495673 48674615 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445401,nssv1445400,nssv1445402 M 95 2 1 "" esv29114 6 48548314 48550454 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18465 S 451 0 1 "" NA19108 nsv462942 6 48588223 48706158 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538995 S 1557 0 1 "" 1780862014_A nsv885878 6 48589425 48731367 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519509 S 6533 1 0 "" SP81067 nsv830658 6 48605863 48740482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445404,nssv1445403 M 95 0 2 "" esv2752125 6 48683922 48826548 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986160,essv6986159,essv6982408,essv6982407,essv6988532 M 771 1 0 "" BEC_437 nsv885879 6 48742915 48838628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554823 S 6533 0 1 "" MS21020 esv1156779 6 48780921 48780921 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918987 S 2 1 0 "" HuRef esv26330 6 48853165 48861694 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17513 S 451 1 0 "" NA19257 nsv348802 6 48908528 48908528 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367380 M 24 "" esv2581873 6 48933688 48935192 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192013 S 1 0 1 "" NA18507 nsv5292 6 48945812 48992037 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6064 S 9 0 1 "" NA12156 esv24015 6 48948954 48954538 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12249 S 451 0 1 "" NA12489 esv23997 6 49006113 49012262 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21201 S 451 1 0 "" NA19257 nsv508406 6 49036065 49041157 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618789 S 4 0 1 "" NA10860 nsv5293 6 49038061 49050451 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3437 S 9 0 1 "" NA12878 nsv436519 6 49038166 49047694 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466272 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv24303 6 49038836 49046464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18961 S 451 0 7 "" NA11993,NA12414,NA12749,NA12878,NA18505,NA18916,NA19108 nsv823685 6 49038852 49046452 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425018,nssv1426927,nssv1434457,nssv1433152,nssv1426710,nssv1428321 M 31 0 6 "" AK10,AK2,AK6,NA18570,NA18592,NA18947 esv9681 6 49038914 49046525 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32122 S 1 0 1 "" SJK nsv514359 6 49039040 49046280 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627809 S 1414 0 1 "" nsv442982 6 49039688 49043159 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv885880 6 49083621 49210145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541946 S 6533 0 1 "" MS15571 esv25609 6 49099205 49102953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14082 S 451 0 1 "" NA18502 nsv521530 6 49244922 49277296 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698147 S 2026 0 1 "" esv23331 6 49389844 49403067 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13429 S 451 0 1 "" NA18916 nsv462943 6 49426984 49484883 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538996 S 1557 0 1 "" 1798860114_A nsv441996 6 49539524 49555254 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CENPQ nsv885881 6 49547764 49683100 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525488 S 6533 0 1 C6orf141,CENPQ,GLYATL3,RHAG SP56640 esv2141120 6 49605422 49605882 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675745 S 1 0 1 "" NA18507 esv269023 6 49669850 49669935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515520,essv2518486,essv2515704,essv2515890,essv2519439,essv2513737 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12249,NA12287,NA12815,NA12873 esv1710565 6 49669888 49669888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644071 S 2 1 0 "" HuRef esv2416381 6 49671613 49672020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562854 S 1 0 1 "" NA18507 esv1690753 6 49671841 49671917 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152539 S 2 0 1 "" HuRef nsv823687 6 49734201 49742539 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429102 S 31 0 1 "" AK12 esv2355152 6 49744977 49745413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539929 S 1 0 1 "" NA18507 nsv5294 6 49924747 49961305 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6065 S 9 0 1 CRISP1 NA12156 esv1045705 6 49973598 49973598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620192 S 2 1 0 "" HuRef esv1108221 6 49997738 49997738 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248612 S 2 1 0 "" HuRef nsv5295 6 50063037 50115669 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv549 S 9 0 1 DEFB110 NA19240 esv26588 6 50080714 50081214 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16751 S 451 1 0 "" NA11995 esv8331 6 50107458 50107536 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30772 S 1 1 0 "" SJK esv8812 6 50275741 50275809 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31253 S 1 1 0 "" SJK nsv818416 6 50360274 50379554 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417220 S 112 0 1 "" NA18576 esv1674842 6 50395255 50395255 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665612 S 2 1 0 "" HuRef nsv885882 6 50580886 50675044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537489 S 6533 0 1 "" MS13228 nsv5296 6 50623687 50639883 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8246 S 9 0 1 "" NA12156 dgv1950e1 6 50627298 50775800 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv53,essv19944 M 271 0 0 "" NA12813 esv33851 6 50649959 50659352 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99555 S 51 1 0 "" 22335 nsv5297 6 50658390 50690687 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10498 S 9 1 0 "" NA18956 nsv7898 6 50666781 50670211 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14327 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 esv268098 6 50728594 50728883 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501315,essv2504663,essv2510441,essv2499829 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19099,NA19172,NA19225 esv267835 6 50864861 50865200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557806,essv2540915,essv2546611,essv2521438,essv2544074,essv2531711,essv2548572,essv2547468,essv2578019,essv2576337,essv2564221,essv2537363,essv2546803,essv2557447,essv2578762,essv2537176,essv2529732,essv2545197,essv2549825,essv2554470 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11831,NA11881,NA11894,NA11992,NA12006,NA12045,NA12717,NA12761,NA12814,NA12828,NA12878,NA12892,NA18499,NA18510,NA18517,NA19093,NA19172,NA19225 esv273101 6 50864864 50865203 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581718,essv2582370,essv2582935,essv2584278 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv2528580 6 50873400 50874884 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268134 S 1 0 1 "" NA18507 esv2410192 6 50873730 50874426 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645546 S 1 0 1 "" NA18507 esv4018 6 50873819 50874401 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26459 S 1 0 1 Single Asian sample YH "" YH esv1007147 6 50873923 50874233 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572934 S 3 0 1 "" HuRef esv8163 6 50873924 50874221 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30604 S 1 0 1 "" SJK nsv349822 6 50873931 50874241 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368400 M 24 "" nsv830660 6 50904457 51087248 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445405 S 95 1 0 TFAP2B esv275245 6 51000687 51007220 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586148 S 1250 0 1 "" nsv830661 6 51002883 51196617 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445408 S 95 0 1 "" nsv509133 6 51129326 51207151 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619451,nssv618050,nssv620850 M 4 3 0 "" CHM,NA10860,NA15510 nsv511123 6 51129326 51207151 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624305 S 4 0 0 "" NA18994 nsv5300 6 51139144 51140722 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3438 S 9 1 0 "" NA12878 esv22506 6 51148282 51154018 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17774 S 451 1 0 "" NA19257 nsv5301 6 51229517 51274348 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8248 S 9 0 1 "" NA12156 nsv820162 6 51306460 51308137 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419306 S 2 0 1 "" AK1 esv2303365 6 51307239 51308274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783417 S 1 0 1 "" NA18507 esv2623719 6 51307256 51309396 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195178 S 1 0 1 "" NA18507 nsv823688 6 51307388 51308060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433163,nssv1425020,nssv1438183,nssv1437467,nssv1426711,nssv1423442,nssv1436664 M 31 0 7 "" AK2,AK6,NA18542,NA18592,NA18949,NA18951,NA18999 esv3332 6 51307397 51308125 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25773 S 1 0 1 Single Asian sample YH "" YH esv28661 6 51307432 51308104 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17972 S 451 0 13 "" NA12006,NA12287,NA15510,NA18502,NA18505,NA18517,NA18858,NA18907,NA18916,NA19114,NA19129,NA19147,NA19240 nsv5302 6 51314359 51359309 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8249 S 9 0 1 "" NA12156 esv2643896 6 51340951 51342447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166945 S 1 0 1 "" NA18507 esv2641801 6 51363861 51365364 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291184 S 1 0 1 "" NA18507 esv2137669 6 51364062 51364773 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929537 S 1 0 1 "" NA18507 esv3049 6 51364185 51364696 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25490 S 1 0 1 Single Asian sample YH "" YH nsv349924 6 51364246 51364561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368502 M 24 "" esv8302 6 51364253 51364557 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30743 S 1 0 1 "" SJK esv2496674 6 51364260 51364575 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354979 S 1 0 1 "" NA18507 esv269725 6 51408004 51408368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503247,essv2505116,essv2508032,essv2501650,essv2510336,essv2493463,essv2501203,essv2513423,essv2504856,essv2503586,essv2511522 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA11881,NA11995,NA12003,NA12144,NA12414,NA12763,NA18516,NA18907,NA19099 nsv349925 6 51427002 51432783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368503 M 24 "" dgv1951e1 6 51472475 51548810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv379,essv1620 M 271 0 0 "" NA18942 nsv526396 6 51478694 51484663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702695 S 2026 0 1 "" esv994333 6 51521743 51521993 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582050 S 3 0 1 "" HuRef nsv349942 6 51530640 51533636 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368520 M 24 "" nsv7380 6 51534370 51574456 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2590 S 9 0 0 "" NA18555 esv2544200 6 51557340 51558703 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188500 S 1 0 1 "" NA18507 esv2448462 6 51624872 51626390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337948 S 1 0 1 PKHD1 NA18507 esv2002849 6 51625113 51625833 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914392 S 1 0 1 PKHD1 NA18507 esv3575 6 51625268 51625702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26016 S 1 0 1 Single Asian sample YH PKHD1 YH esv1002109 6 51625311 51625636 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584529 S 3 0 1 PKHD1 HuRef esv6562 6 51625319 51625634 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29003 S 1 0 1 PKHD1 SJK esv1140845 6 51625323 51625649 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917557 S 2 0 1 PKHD1 HuRef nsv526292 6 51705517 51750794 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702573 S 2026 1 0 PKHD1 nsv510899 6 51761509 51800991 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624306,nssv621588 M 4 0 0 PKHD1 NA15510,NA18994 nsv510029 6 51770943 51776943 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618236 S 4 0 1 PKHD1 CHM esv24252 6 51774942 51783579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14519,esv11611,esv14184,esv15820,esv14630 M 451 0 19 PKHD1 NA07037,NA11931,NA11993,NA12004,NA12006,NA12044,NA12287,NA12414,NA12749,NA12878,NA15510,NA18523,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19257 esv33924 6 51776784 51777084 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93319 S 51 1 0 PKHD1 22170 nsv507329 6 51777716 51783716 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617705 S 4 1 0 PKHD1 CHM esv33429 6 51780890 51781041 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97946,essv97288 M 51 2 0 PKHD1 21837,21879 nsv5303 6 51818197 51896887 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4914,nssv2591,nssv11126,nssv550 M 9 0 4 PKHD1 NA15510,NA18555,NA19129,NA19240 nsv511313 6 51842122 51845946 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625377 S 1 0 1 PKHD1 1 nsv511882 6 51843249 51845065 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624415 S 1 0 1 PKHD1 1 nsv820795 6 51844015 51844735 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420586 S 1 0 1 PKHD1 NA10851 esv5268 6 51844037 51844928 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27709 S 1 0 1 Single Asian sample YH PKHD1 YH esv23003 6 51844127 51844735 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13436 S 451 8 6 PKHD1 NA07045,NA11894,NA11995,NA12287,NA12414,NA12749,NA12828,NA15510,NA18517,NA18909,NA18916,NA19099,NA19240,NA19257 esv2587934 6 51846905 51854204 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301225 S 1 0 1 PKHD1 NA18507 nsv436518 6 51847279 51854838 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466274 S 2 0 1 Samples from several populations that are part of the HapMap project. PKHD1 NA18505 nsv499787 6 51847521 51853575 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585981 S 9 0 1 PKHD1 nsv349361 6 51847528 51853565 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367939 M 24 PKHD1 nsv823689 6 51854072 51854735 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428322 S 31 0 1 PKHD1 AK10 esv23422 6 51909306 51916387 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19666 S 451 1 0 PKHD1 NA12828 esv990745 6 51910545 51918479 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564894 S 3 0 1 PKHD1 HuRef nsv509134 6 51932953 51975821 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620851 S 4 1 0 PKHD1 NA15510 esv1493351 6 51954943 51954943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4032680 S 2 1 0 PKHD1 HuRef esv1154861 6 51954996 51954996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959670 S 2 1 0 PKHD1 HuRef esv2555448 6 51962399 51963334 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176589 S 1 1 0 PKHD1 NA18507 esv2551556 6 51975694 51977069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175171 S 1 0 1 PKHD1 NA18507 esv271875 6 52037588 52037941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519193,essv2518450,essv2516606,essv2515725,essv2518165,essv2519143,essv2515221,essv2518847 M 157 8 0 Samples from several populations that are part of the HapMap project. PKHD1 NA11894,NA12287,NA12814,NA12815,NA12872,NA19141,NA19238,NA19239 esv272475 6 52037591 52037937 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580917,essv2579275 M 7 2 0 Samples from several populations that are part of the HapMap project. PKHD1 NA19238,NA19239 nsv830662 6 52037630 52237235 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445409 S 95 1 0 IL17A,IL17F,MCM3,MIR133B,MIR206,PKHD1 nsv522645 6 52082248 52179974 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706045 S 2026 1 0 IL17A,MIR133B,MIR206 esv21698 6 52328121 52339351 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13665 S 451 1 0 PAQR8 NA12044 nsv527443 6 52363570 52371703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703884 S 2026 0 1 PAQR8 nsv517935 6 52386307 52393791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695347 S 2026 0 1 EFHC1 nsv522674 6 52468290 52479378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706080 S 2026 0 1 EFHC1,TRAM2 nsv518713 6 52470364 52493023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696163 S 2026 0 1 TRAM2 nsv527895 6 52479378 52489144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704398 S 2026 0 1 TRAM2 nsv830663 6 52487834 52672265 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445410 S 95 0 1 LOC730101,TMEM14A,TRAM2 nsv519812 6 52577863 52584642 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697064 S 2026 0 1 "" nsv462945 6 52615564 52816756 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538997 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GSTA1,GSTA2,GSTA5,GSTA7P,LOC730101,TMEM14A HGDP00628 nsv470818 6 52615564 52849574 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544493 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GSTA1,GSTA2,GSTA5,GSTA7P,LOC730101,TMEM14A HGDP00628 esv273125 6 52644987 52645120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580259,essv2579905 M 7 2 0 Samples from several populations that are part of the HapMap project. TMEM14A NA12878,NA12892 esv269679 6 52645041 52645153 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510239,essv2499399,essv2502296,essv2512473,essv2510313,essv2493393,essv2508881,essv2502803,essv2512949,essv2497819,essv2508468,essv2510000,essv2512336,essv2502748,essv2500794 M 157 15 0 Samples from several populations that are part of the HapMap project. TMEM14A NA10851,NA11994,NA12004,NA12043,NA12414,NA12776,NA12878,NA12892,NA18547,NA18555,NA18582,NA18593,NA18949,NA18965,NA18973 nsv517722 6 52675354 52676301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657693,nssv652987,nssv688407 M 2026 0 3 "" nsv523124 6 52717623 52729563 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698825 S 2026 0 1 GSTA2,GSTA7P esv2752126 6 52721018 52797500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981843,essv6981842,essv6985678 M 771 1 0 GSTA1,GSTA2 BEC_492 esv9378 6 52726397 52767619 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31819 S 1 0 1 GSTA1,GSTA2 SJK esv4858 6 52726524 52799326 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27299 S 1 1 0 Single Asian sample YH GSTA1,GSTA2 YH nsv885883 6 52729563 52816756 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592632 S 6533 1 0 GSTA1,GSTA2,GSTA5 IS39243 dgv1952e1 6 52730063 52774200 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1277,essv3910 M 271 0 0 GSTA1,GSTA2 NA18960 esv2436160 6 52732943 52817550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235964 S 1 0 1 GSTA1,GSTA2,GSTA5 NA18507 nsv436888 6 52742546 52775111 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466275 S 2 1 0 Samples from several populations that are part of the HapMap project. GSTA1 NA18505 esv2345928 6 52758936 52760761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772211 S 1 0 1 "" NA18507 esv7970 6 52758956 52760665 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30411 S 1 0 1 "" SJK esv3463 6 52759035 52760689 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25904 S 1 0 1 Single Asian sample YH "" YH nsv482096 6 52764138 52776623 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558457 S 1 1 0 GSTA1 KB1 nsv482097 6 52804502 52818852 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558458 S 1 1 0 GSTA5 KB1 esv271583 6 52820638 52820723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517227 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv5304 6 52896888 52918637 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4915 S 9 0 1 "" NA19129 esv2507253 6 52900636 52905655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371721 S 1 0 1 "" NA18507 nsv7899 6 52900786 52905511 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14939 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 dgv1953e1 6 52900813 52930406 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14660,essv9854,essv14906 M 271 0 0 "" NA19129,NA19144,NA19145 dgv1954e1 6 52900813 52969163 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11378,esv1264 M 271 0 0 GSTA4 NA19127 esv2147982 6 52900832 52904836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4618222 S 1 0 1 "" NA18507 esv23249 6 52901202 52904583 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13646 S 451 0 3 "" NA18861,NA19147,NA19225 nsv7900 6 52904081 52912128 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14938 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv499584 6 52905365 52911805 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585982 S 9 0 1 "" nsv526421 6 52905380 52909987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702722 S 2026 0 1 "" nsv818417 6 52905380 52909987 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418154,nssv1418155 M 112 0 2 "" NA19144,NA19145 esv29004 6 52905380 52911786 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21192 S 451 0 1 "" NA19129 nsv885884 6 52905380 52938820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587700 S 6533 1 0 "" IS38099 nsv441997 6 52906021 52910202 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv348838 6 52942031 52942031 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367416 M 24 "" esv1626669 6 52942038 52942038 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969628 S 2 1 0 "" HuRef nsv348715 6 52942039 52942039 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367293 M 24 "" nsv520784 6 53097965 53099317 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697607 S 2026 1 0 "" esv2179979 6 53145655 53146091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825725 S 1 0 1 "" NA18507 esv2600022 6 53198622 53199445 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180409 S 1 1 0 "" NA18507 esv1272268 6 53199055 53199055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3664373 S 2 1 0 "" HuRef esv1725387 6 53199127 53199127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666973 S 2 1 0 "" HuRef esv274951 6 53202820 53204641 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585284 S 1250 0 1 "" esv270244 6 53275384 53275668 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510259,essv2499376,essv2507981,essv2512408,essv2493413,essv2494613,essv2497221,essv2497772,essv2500607,essv2512696,essv2495047 M 157 11 0 Samples from several populations that are part of the HapMap project. ELOVL5 NA07051,NA10851,NA11994,NA12003,NA12043,NA12763,NA18550,NA18552,NA18555,NA18571,NA18577 esv259443 6 53318191 53318516 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394236,essv2393957,essv2393793,essv2393652,essv2394351 M 6 0 0 Samples from several populations that are part of the HapMap project. ELOVL5 NA12878,NA12891,NA12892,NA19238,NA19240 esv259787 6 53318194 53318524 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394766,essv2398610,essv2400327,essv2398493,essv2399098,essv2398884,essv2396015,essv2400561,essv2399976,essv2400728,essv2399203,essv2399715,essv2397361,essv2401068,essv2396920,essv2395708,essv2400702,essv2400946,essv2399880,essv2398512,essv2395513,essv2397442,essv2399846,essv2398868,essv2400439,essv2398952,essv2394448,essv2396201,essv2397472,essv2395449,essv2398135,essv2394555,essv2396994,essv2398763,essv2395949,essv2400470 M 144 0 0 Samples from several populations that are part of the HapMap project. ELOVL5 NA07357,NA10847,NA11881,NA11894,NA11920,NA11995,NA12003,NA12043,NA12156,NA12717,NA12776,NA12828,NA12878,NA12891,NA12892,NA18532,NA18542,NA18547,NA18561,NA18562,NA18563,NA18566,NA18573,NA18582,NA18592,NA18603,NA18943,NA18944,NA18947,NA18948,NA18949,NA18965,NA18973,NA19005,NA19238,NA19240 nsv521755 6 53343590 53372444 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694522 S 2026 1 0 "" nsv5305 6 53389576 53421163 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10499 S 9 1 0 "" NA18956 esv1006121 6 53403876 53422561 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564010 S 3 0 0 "" HuRef nsv516447 6 53572959 53576038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659403,nssv668461,nssv663712 M 2026 0 3 "" nsv519037 6 53624994 53640096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696506 S 2026 0 1 KLHL31 esv2421836 6 53689357 53699079 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5128691,essv5006022,essv5098029,essv5077889,essv5112066,essv5059734,essv5011757,essv5005718,essv5066303,essv5010584,essv5157412,essv5060826,essv5128735,essv5072044,essv5011037,essv5039642,essv5007410,essv5123510 M 1184 18 0 "" NA19182,NA19321,NA21117,NA21360,NA21361,NA21403,NA21417,NA21424,NA21425,NA21436,NA21478,NA21485,NA21488,NA21490,NA21616,NA21631,NA21741,NA21776 esv2619276 6 53717269 53718428 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355828 S 1 1 0 "" NA18507 esv269059 6 53717617 53717919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514683,essv2516659,essv2519214,essv2517099,essv2515452,essv2518467,essv2516527,essv2515625,essv2518178,essv2515876,essv2514412,essv2517655,essv2519054,essv2518395 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA11931,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA19141,NA19240 esv274151 6 53717617 53717919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581030 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv2531603 6 53756246 53757187 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253671 S 1 1 0 "" NA18507 esv273130 6 53756678 53757015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584797,essv2583447 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270320 6 53756682 53757019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565742,essv2540727,essv2526086,essv2542393,essv2522835,essv2570887,essv2556654,essv2568266,essv2545357,essv2570437,essv2548548,essv2521759,essv2550443,essv2554123,essv2547342,essv2558698,essv2564738,essv2578050,essv2553763,essv2520094,essv2555142,essv2530721,essv2537643,essv2528610,essv2547110,essv2540176,essv2557333,essv2557063,essv2536827,essv2527100,essv2544896,essv2562827,essv2523815,essv2552948,essv2538369,essv2542905,essv2524441,essv2564946,essv2561285,essv2539636,essv2549257,essv2519688,essv2560164,essv2521907,essv2566101,essv2530944,essv2532648,essv2567853,essv2541860,essv2569913,essv2563814,essv2535894,essv2572337,essv2559364,essv2569054,essv2527868,essv2562196,essv2578482,essv2573203,essv2555312,essv2533770,essv2555713,essv2567147,essv2566406,essv2529945,essv2574027,essv2534251,essv2522381,essv2531565,essv2573532,essv2543140,essv2571936,essv2525675,essv2526811,essv2575290,essv2560785,essv2574929,essv2545198,essv2571166,essv2574099,essv2551599,essv2535906,essv2537789,essv2533266 M 157 84 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA11829,NA11831,NA11918,NA11919,NA11931,NA11993,NA11994,NA11995,NA12003,NA12044,NA12045,NA12144,NA12234,NA12287,NA12717,NA12750,NA12751,NA12761,NA12763,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18517,NA18522,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18861,NA18907,NA18909,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19102,NA19116,NA19138,NA19172,NA19238,NA19240,NA19257 nsv830664 6 53805980 53933229 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445411 S 95 1 0 LRRC1 nsv5306 6 53848108 53882272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2724 S 9 1 0 LRRC1 NA18555 esv5680 6 53886936 53887024 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28121 S 1 1 0 LRRC1 SJK dgv1955e1 6 53947332 54115308 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4462,esv545 M 271 0 0 MLIP NA18552 nsv515808 6 53963448 53973626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688133,nssv664836,nssv656848 M 2026 0 3 "" nsv5307 6 53982077 54060189 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10500,nssv3439,nssv6066,nssv4916 M 9 0 4 MLIP NA12156,NA12878,NA18956,NA19129 nsv517189 6 54004114 54011111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669911,nssv677460,nssv653967 M 2026 0 3 MLIP nsv526401 6 54004114 54020294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702700 S 2026 0 1 MLIP nsv523301 6 54004114 54029086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699041 S 2026 0 1 MLIP nsv7901 6 54022450 54089039 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14396,nssv14794,nssv14305,nssv14968,nssv13600,nssv17114,nssv14357,nssv14330,nssv16793,nssv15912,nssv16521,nssv16483,nssv14342,nssv14956,nssv16467,nssv15186,nssv17220,nssv15638,nssv14969,nssv13972,nssv14587,nssv13399,nssv15421 M 31 23 0 Samples from several populations that are part of the HapMap project. MLIP NA07029,NA10839,NA10863,NA11830,NA12155,NA12802,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv823690 6 54023140 54026386 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422639 S 31 1 0 MLIP NA18552 nsv823691 6 54026386 54086725 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422640 S 31 1 0 MLIP NA18552 nsv885885 6 54027983 54154223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552253 S 6533 0 1 MLIP MS19303 dgv119n17 6 54032656 54045782 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436994,nsv436993 M 60 0 2 MLIP NA10857,NA12752 esv34853 6 54032656 54085408 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979426,essv6986864,essv6979427,essv6979428,essv6979429 M 771 1 0 MLIP NA18552 esv5367 6 54032677 54042860 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27808 S 1 0 0 Single Asian sample YH MLIP YH nsv508407 6 54033491 54038601 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617518,nssv618790 M 4 0 2 MLIP CHM,NA10860 esv5312 6 54035666 54042896 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27753 S 1 0 1 Single Asian sample YH MLIP YH dgv53n50 6 54036409 54044341 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511337,nsv511883 M 1 0 1 MLIP 1 nsv514360 6 54036544 54042792 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627810 S 1414 0 1 MLIP dgv1045n67 6 54036604 54042885 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823694,nsv823692,nsv823693 M 31 0 21 MLIP AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18564,NA18566,NA18942,NA18947,NA18951,NA18968,NA18969,NA18997,NA18999 nsv821284 6 54036604 54042885 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420587 S 1 0 1 MLIP NA10851 nsv820018 6 54036634 54042843 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419759 S 2 1 0 MLIP AK1 esv990236 6 54036668 54043854 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564063 S 3 0 1 MLIP HuRef esv26113 6 54036723 54042793 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14124 S 451 31 0 MLIP NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA12156,NA12414,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv1046n67 6 54038232 54039040 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823695,nsv823696 M 31 3 0 MLIP AK16,AK18,AK4 esv2421881 6 54039043 54039829 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059746,essv5135968,essv5047763,essv5038764,essv5029983,essv5068646,essv5148619,essv5137895,essv5118843,essv5071117,essv5093769,essv5035070,essv5002206,essv5051782,essv5108010,essv5042861,essv5022128,essv5018277,essv5009486,essv5006233,essv5123372,essv5030138,essv5085541,essv5037843,essv5116809,essv5011278,essv5124065,essv5090625,essv5055360,essv5094192,essv5010973,essv5032702,essv5018265,essv5022215,essv5071564,essv5112059,essv5011457,essv5111234,essv5107646,essv5120556,essv5103327,essv5116643,essv5138801,essv5057856,essv5132168,essv5146124,essv5017707,essv5119477,essv5123608,essv5120254,essv5135741,essv5028307,essv5005954,essv5116532,essv5039924,essv5037523,essv5157543,essv5108329,essv5103194,essv5093039,essv5151307,essv5026518,essv5134983,essv5079607,essv5145068,essv5143776,essv5035814,essv5160966,essv5157988,essv5067072,essv5152797,essv5160933,essv5020167,essv5037437,essv5121251,essv5053981,essv5139587,essv5028926,essv5008562,essv5041359,essv5008466,essv5155141,essv5033309,essv5039262,essv5110618,essv5103000,essv5045224,essv5075965,essv5077886,essv5100857,essv5077085,essv5036988,essv5109221,essv5018203,essv5083733,essv5132792,essv5073483,essv5004952,essv5028972,essv5055508,essv5104650,essv5057737,essv5058372,essv5066925,essv5077564,essv5094413,essv5068511,essv5014310,essv5060980,essv5018439,essv5009706,essv5142569,essv5116122,essv5154252,essv5055996,essv5027019,essv5080925,essv5115833,essv5105805,essv5067965,essv5141666,essv5022134,essv5041503,essv5103623,essv5159642,essv5113297,essv5140463,essv5087621,essv5107617,essv5009334,essv5085272,essv5154325,essv5055093,essv5038393,essv5042352,essv5058994,essv5078244,essv5105026,essv5114551,essv5112796,essv5044628,essv5147730,essv5031935,essv5047324,essv5012270,essv5074521,essv5022330,essv5008189,essv5022165,essv5028621,essv5107764,essv5035786,essv5036923,essv5144633,essv5125117,essv5050555,essv5049635,essv5110599,essv5127133,essv5071898,essv5155464,essv5012821,essv5020283,essv5151156,essv5116100,essv5046146,essv5156159,essv5008343,essv5091507,essv5024866,essv5005079,essv5152966,essv5067076,essv5113073,essv5029380,essv5122286,essv5079548,essv5069408,essv5039515,essv5033315,essv5138211,essv5067323,essv5039354,essv5047478,essv5109033,essv5006405,essv5110187,essv5116748,essv5126289,essv5009717,essv5158819,essv5067385,essv5114145,essv5011983,essv5123075,essv5054445,essv5103393,essv5126711,essv5124682,essv5129204,essv5158187,essv5079884,essv5144287,essv5122447,essv5103765,essv5124421,essv5023794,essv5094146,essv5065684,essv5142548,essv5125371,essv5108916,essv5086690,essv5069644,essv5103407,essv5082109,essv5007984,essv5054002,essv5042678,essv5124946,essv5137490,essv5087688,essv5034583,essv5074881,essv5034668,essv5013269,essv5099679,essv5026664,essv5068264,essv5066573,essv5082116,essv5052566,essv5139912,essv5091345,essv5031165,essv5077581,essv5137791,essv5044743,essv5126122,essv5092689,essv5124557,essv5145705,essv5096506,essv5013167,essv5057880,essv5041575,essv5112251,essv5121915,essv5090117,essv5012093,essv5151961,essv5073916,essv5077749,essv5058988,essv5070973,essv5083778,essv5052609,essv5117081,essv5139022,essv5117571,essv5117914,essv5138317,essv5026037,essv5092819,essv5085761,essv5026269,essv5094483,essv5111405,essv5100017,essv5038729,essv5003700,essv5149143,essv5149630,essv5064549,essv5007926,essv5062771,essv5029711,essv5109752,essv5053689,essv5003365,essv5019286,essv5096715,essv5124105,essv5045990,essv5061565,essv5083970,essv5059412,essv5147697,essv5054732,essv5102669,essv5112766,essv5012098,essv5079759,essv5083617,essv5069720,essv5039178,essv5089861,essv5003111,essv5050544,essv5007012,essv5127524,essv5033588,essv5025799,essv5009011,essv5149497,essv5066771,essv5042807,essv5147648,essv5085552,essv5035145,essv5094595,essv5002534,essv5016859,essv5153577,essv5047073,essv5034760,essv5042572,essv5128458,essv5057060,essv5142279,essv5100547,essv5071396,essv5101371,essv5048234,essv5128488,essv5160776,essv5023151,essv5156661,essv5056522,essv5159832,essv5006887,essv5077936,essv5074074,essv5154254,essv5047596,essv5129856,essv5077290,essv5099953,essv5123352,essv5070935,essv5060163,essv5070350,essv5078929,essv5012951,essv5097334,essv5069832,essv5046898,essv5026718,essv5120485,essv5122701,essv5035650,essv5034783,essv5057070,essv5028283,essv5114041,essv5134846,essv5059629,essv5018335,essv5039561,essv5121316,essv5123481,essv5027973,essv5140499,essv5097190,essv5059964,essv5033404,essv5097212,essv5128703,essv5068385,essv5070292,essv5152867,essv5155412,essv5065014,essv5053581,essv5089437,essv5156303,essv5121908,essv5114926,essv5069071,essv5087366,essv5157016,essv5018717,essv5029976,essv5047620,essv5009787,essv5102675,essv5067484,essv5091288,essv5035766,essv5107028,essv5040870,essv5003884,essv5128778,essv5024178,essv5069628,essv5022595,essv5135491,essv5042170,essv5131567,essv5069089,essv5044096,essv5111773,essv5068650,essv5114398,essv5157671,essv5090952,essv5053033,essv5093983,essv5041526,essv5032735,essv5037903,essv5132476,essv5144587,essv5116095,essv5042438,essv5013703,essv5155481,essv5126704,essv5051243,essv5050970,essv5073603,essv5054657,essv5055666,essv5125173,essv5078177,essv5055754,essv5014997,essv5145588,essv5048948,essv5086651,essv5055011,essv5133315,essv5095968,essv5060584,essv5044273,essv5023479,essv5023500,essv5023295,essv5070186,essv5074549,essv5138469,essv5007644,essv5113392,essv5081428,essv5056326,essv5137343,essv5123706,essv5152204,essv5095822,essv5069632,essv5082609,essv5140981,essv5100620,essv5101963,essv5153311,essv5118300,essv5039128,essv5155869,essv5038327,essv5113051,essv5024475,essv5109126,essv5059943,essv5104344,essv5122621,essv5029356,essv5048812,essv5077609,essv5090972,essv5118808,essv5082231,essv5024457,essv5098290,essv5050198,essv5158427,essv5054468,essv5046244,essv5028244,essv5136155,essv5061072,essv5089049,essv5077485,essv5155470,essv5092198,essv5083118,essv5087021,essv5119848,essv5058992,essv5145112,essv5040296,essv5002309,essv5036756,essv5040049,essv5113195,essv5055411,essv5109231,essv5076266,essv5089753,essv5099028,essv5145503,essv5063337,essv5025024,essv5066113,essv5125631,essv5045239,essv5078189,essv5034379,essv5035854,essv5154673,essv5066604,essv5136423,essv5153765,essv5140714,essv5150454,essv5093695,essv5022426,essv5031093,essv5143049,essv5017504,essv5087490,essv5036263,essv5155049,essv5130955,essv5083678,essv5027194,essv5093742,essv5151596,essv5135071,essv5072818,essv5131824,essv5145635,essv5071801,essv5129983,essv5042736,essv5025788,essv5086459,essv5075746,essv5142727,essv5100204,essv5036604,essv5107255,essv5122380,essv5132354,essv5062053,essv5073933,essv5109845,essv5031179,essv5114370,essv5024373,essv5117484,essv5022278,essv5018722,essv5146893,essv5041207,essv5072205,essv5118280,essv5123457,essv5064069,essv5039997,essv5067917,essv5008119,essv5078824,essv5005271,essv5012534,essv5083801,essv5012591,essv5143093,essv5010615,essv5012164,essv5058904,essv5022578,essv5027092,essv5023344,essv5024617,essv5141777,essv5090631,essv5114331,essv5036054,essv5069347,essv5077266,essv5117580,essv5148038,essv5113418,essv5069879,essv5039318,essv5102911,essv5033206,essv5047554,essv5088343,essv5009798,essv5125137,essv5069119,essv5125670,essv5060590,essv5110346,essv5053202,essv5076455,essv5045798,essv5119499,essv5021551,essv5055580,essv5086431,essv5037095,essv5035962,essv5108505,essv5018706,essv5159917,essv5110323,essv5025014,essv5116332,essv5148368,essv5023078,essv5123192,essv5082129,essv5161216,essv5090071,essv5070541,essv5125971,essv5146051,essv5158937,essv5035600,essv5041330,essv5030145,essv5092826,essv5152515,essv5096334,essv5129051,essv5106254,essv5036064,essv5122719,essv5014775,essv5018768,essv5014000,essv5104489,essv5015528,essv5012362,essv5107338,essv5043037,essv5023379,essv5013025,essv5085662,essv5128975,essv5090061,essv5041099,essv5059027,essv5110743,essv5080012,essv5089383,essv5002648,essv5046192,essv5002145,essv5054337,essv5079585,essv5034341,essv5040076,essv5080096,essv5155971,essv5048883,essv5005192,essv5158502,essv5059772,essv5129158,essv5020963,essv5093445,essv5039734,essv5055636,essv5057042 M 1184 0 667 MLIP NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07348,NA07349,NA07357,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10847,NA10852,NA10853,NA10854,NA10855,NA10856,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12146,NA12154,NA12155,NA12156,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17965,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17988,NA17990,NA17993,NA17996,NA17997,NA17999,NA18101,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18499,NA18526,NA18529,NA18532,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18550,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18645,NA18670,NA18674,NA18685,NA18689,NA18694,NA18704,NA18740,NA18747,NA18748,NA18749,NA18757,NA18861,NA18924,NA18925,NA18939,NA18942,NA18944,NA18946,NA18947,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18966,NA18967,NA18968,NA18969,NA18971,NA18975,NA18976,NA18977,NA18978,NA18979,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19005,NA19009,NA19010,NA19031,NA19055,NA19056,NA19059,NA19062,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19087,NA19088,NA19094,NA19113,NA19115,NA19130,NA19132,NA19138,NA19139,NA19143,NA19182,NA19203,NA19204,NA19314,NA19315,NA19316,NA19328,NA19332,NA19360,NA19374,NA19375,NA19380,NA19381,NA19382,NA19428,NA19438,NA19440,NA19456,NA19466,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19656,NA19657,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19682,NA19684,NA19685,NA19686,NA19701,NA19703,NA19705,NA19716,NA19723,NA19724,NA19725,NA19726,NA19727,NA19747,NA19748,NA19750,NA19755,NA19756,NA19759,NA19760,NA19761,NA19762,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19900,NA19908,NA19921,NA20129,NA20279,NA20282,NA20284,NA20301,NA20302,NA20332,NA20333,NA20334,NA20335,NA20343,NA20344,NA20346,NA20348,NA20349,NA20350,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20768,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20854,NA20856,NA20858,NA20859,NA20862,NA20866,NA20869,NA20871,NA20872,NA20875,NA20876,NA20877,NA20879,NA20881,NA20883,NA20884,NA20885,NA20888,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20901,NA20902,NA20903,NA20906,NA20907,NA20908,NA20910,NA20911,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21117,NA21119,NA21123,NA21125,NA21137,NA21143,NA21297,NA21300,NA21312,NA21316,NA21333,NA21336,NA21355,NA21357,NA21359,NA21360,NA21361,NA21370,NA21371,NA21381,NA21384,NA21385,NA21386,NA21387,NA21389,NA21390,NA21403,NA21404,NA21415,NA21417,NA21418,NA21421,NA21424,NA21425,NA21436,NA21440,NA21448,NA21451,NA21457,NA21486,NA21487,NA21509,NA21510,NA21512,NA21514,NA21520,NA21521,NA21524,NA21525,NA21528,NA21529,NA21576,NA21582,NA21587,NA21596,NA21608,NA21615,NA21616,NA21617,NA21619,NA21631,NA21632,NA21635,NA21636,NA21647,NA21717,NA21718,NA21722,NA21723,NA21784,NA21825 essv8257 6 54059816 54081729 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MLIP NA19153 essv5979 6 54059816 54115308 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MLIP NA18552 nsv885886 6 54064836 54117026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596749 S 6533 0 1 MLIP IS40627 nsv885887 6 54069743 54154223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600745 S 6533 0 1 MLIP IS41922 nsv823699 6 54146227 54155615 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425800 S 31 1 0 MLIP AK4 nsv507330 6 54182852 54188852 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617706,nssv621836,nssv622969,nssv620341 M 4 4 0 MLIP CHM,NA10860,NA15510,NA18994 nsv885888 6 54240312 54373991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525365 S 6533 1 0 TINAG SP56531 nsv819178 6 54293600 54293889 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419747 S 2 1 0 TINAG AK1 esv271367 6 54366251 54366468 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510236,essv2510976,essv2496654,essv2504463,essv2499449,essv2501693,essv2495394,essv2508349,essv2505063,essv2511750,essv2504184,essv2509714,essv2508961,essv2505312,essv2498469,essv2505864,essv2495597,essv2503090,essv2503509,essv2493072,essv2500556,essv2502696,essv2512783,essv2504792,essv2506646,essv2498995,essv2499686,essv2511485,essv2504374 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10851,NA11831,NA11894,NA11993,NA12044,NA12144,NA12287,NA12749,NA12828,NA18499,NA18505,NA18508,NA18522,NA18853,NA18858,NA18861,NA18916,NA18943,NA18947,NA18951,NA18956,NA18965,NA18980,NA19099,NA19108,NA19114,NA19225 esv2490672 6 54374602 54376055 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247368 S 1 0 1 "" NA18507 esv270964 6 54388764 54388849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513914,essv2515187,essv2518314 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19238,NA19240 esv272471 6 54388770 54389063 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582227,essv2583180 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv528901 6 54398292 54445089 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705585 S 2026 1 0 "" esv26042 6 54407264 54413711 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19372 S 451 1 0 "" NA19257 dgv6847n71 6 54447889 54568605 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885896,nsv885890,nsv885897,nsv885894,nsv885889,nsv885892,nsv885895,nsv885893 M 6533 0 24 "" IS31094,IS32891,IS33747,IS34440,IS34573,IS37098,IS37248,IS38390,IS38736,IS40219,IS40627,IS41866,MS10203,MS12188,MS12861,MS14268,MS19303,MS21905,MS23340,MS24529,MS24586,MS24624,MS25750,MS25963 nsv885891 6 54452812 54533835 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561738 S 6533 0 1 "" MS25205 dgv6848n71 6 54484483 54566950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885899,nsv885898 M 6533 0 2 "" IS36657,MS14752 nsv462946 6 54511756 54548592 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538998 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00951 esv2584101 6 54577490 54579117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242570 S 1 0 1 "" NA18507 esv1217607 6 54577751 54577831 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193648 S 2 0 1 "" HuRef nsv885900 6 54625927 54960421 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525181 S 6533 1 0 FAM83B SP56343 esv23903 6 54661877 54665342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21159 S 451 0 2 "" NA18508,NA18517 esv2510453 6 54663494 54665025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257135 S 1 0 1 "" NA18507 esv1963826 6 54664208 54664934 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699452 S 1 0 1 "" NA18507 esv4232 6 54664340 54664913 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26673 S 1 0 1 Single Asian sample YH "" YH nsv348463 6 54664395 54664729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367041 M 24 "" esv2455385 6 54664398 54664732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214912 S 1 0 1 "" NA18507 esv9697 6 54664407 54664726 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32138 S 1 0 1 "" SJK esv1106585 6 54664408 54664743 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992490 S 2 0 1 "" HuRef esv2654510 6 54691529 54693022 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212435 S 1 0 1 "" NA18507 nsv885901 6 54696028 54743376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570494 S 6533 0 1 "" IS32150 nsv885902 6 54696028 54764632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566475 S 6533 0 1 "" IS30742 esv2499778 6 54746482 54747926 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187946 S 1 0 1 "" NA18507 nsv437968 6 54759315 54768204 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468775,nssv468773,nssv468776,nssv468778,nssv468771,nssv468777,nssv468770,nssv468772 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA07348,NA07357,NA19128,NA19129,NA19141,NA19142,NA19209,NA19211 esv22547 6 54770507 54773869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10682 S 451 0 3 "" NA12749,NA18505,NA19114 nsv823700 6 54817607 54818075 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438188 S 31 1 0 "" NA18951 esv269420 6 54822468 54822828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495481,essv2511381,essv2495240,essv2504431,essv2508019,essv2508524,essv2502563,essv2496587,essv2512525,essv2504052,essv2508990,essv2506287,essv2499999,essv2494516,essv2499236,essv2494113,essv2513509,essv2509154,essv2507335,essv2501371,essv2504640,essv2506952,essv2498953,essv2510808,essv2502026,essv2511569 M 157 26 0 Samples from several populations that are part of the HapMap project. FAM83B NA07346,NA11919,NA11920,NA11992,NA11993,NA12003,NA12717,NA12750,NA18486,NA18489,NA18505,NA18522,NA18523,NA18558,NA18572,NA18605,NA18871,NA18907,NA18909,NA18912,NA19093,NA19099,NA19102,NA19114,NA19116,NA19257 nsv5308 6 54849405 54883275 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv551 S 9 1 0 FAM83B NA19240 esv271389 6 54880332 54880668 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493412,essv2508158,essv2508665,essv2512939,essv2500991,essv2503078,essv2502747,essv2512825 M 157 8 0 Samples from several populations that are part of the HapMap project. FAM83B NA12763,NA18579,NA18592,NA18609,NA18856,NA18943,NA18965,NA18980 nsv5309 6 54942930 54963688 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6067 S 9 0 1 "" NA12156 esv29049 6 54954057 54959624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20291 S 451 0 7 "" NA06985,NA07037,NA07045,NA11931,NA12004,NA12156,NA19147 nsv514361 6 54954328 54956732 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627811 S 1414 0 1 "" nsv499725 6 54954340 54959405 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585983 S 9 0 1 "" nsv441998 6 54956414 54958101 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2386057 6 54972137 54972839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782097 S 1 0 1 "" NA18507 esv4623 6 54972272 54972765 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27064 S 1 0 1 Single Asian sample YH "" YH esv8030 6 54972332 54972649 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30471 S 1 0 1 "" SJK nsv348632 6 54972338 54972664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367210 M 24 "" esv271559 6 55115860 55116182 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526216,essv2536646,essv2523416,essv2548314,essv2576813,essv2535146,essv2554287,essv2547231,essv2529110,essv2562053,essv2537394,essv2528575,essv2546886,essv2539951,essv2521007,essv2556902,essv2552612,essv2558730,essv2559227,essv2543455,essv2528113,essv2522530,essv2538853,essv2524239,essv2574558,essv2572656,essv2568769,essv2571364,essv2545988,essv2548030,essv2558066 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10851,NA11918,NA11920,NA12004,NA12045,NA12154,NA12249,NA12287,NA12717,NA12749,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18516,NA18638,NA18870,NA18907,NA18960,NA19108,NA19129,NA19138,NA19143,NA19147,NA19238,NA19239 esv272885 6 55115860 55116184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584034,essv2583511 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv6849n71 6 55250296 55452741 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885904,nsv885903 M 6533 2 0 GFRAL,HCRTR2,HMGCLL1 MS10381,MS24101 nsv527613 6 55279413 55279801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704078 S 2026 0 1 "" nsv470819 6 55344896 55476774 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544494 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GFRAL,HMGCLL1 HGDP00942 nsv462948 6 55346050 55476774 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv538999 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GFRAL,HMGCLL1 HGDP00942 nsv5311 6 55367349 55412004 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8250 S 9 0 1 GFRAL,HMGCLL1 NA12156 esv4242 6 55449667 55450355 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26683 S 1 0 1 Single Asian sample YH HMGCLL1 YH esv5756 6 55449696 55450290 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28197 S 1 0 1 HMGCLL1 SJK nsv349134 6 55449949 55450079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367712 M 24 HMGCLL1 esv1503742 6 55515886 55516133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860307 S 2 0 1 HMGCLL1 HuRef esv22238 6 55521542 55525564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11304 S 451 0 3 HMGCLL1 NA18861,NA18907,NA19147 nsv526284 6 55581253 55594085 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702563 S 2026 0 1 "" nsv512881 6 55600520 55600973 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625525 S 1 1 0 "" 1 esv1258506 6 55600856 55600856 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179594 S 2 1 0 "" HuRef nsv885905 6 55646969 55704577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580291,nssv1583191 M 6533 0 2 "" IS35261,IS36316 dgv6850n71 6 55646969 55733000 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885907,nsv885906,nsv885908 M 6533 0 4 BMP5 IS34737,IS40890,IS41391,MS14359 nsv885909 6 55646969 55782297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556597 S 6533 0 1 BMP5 MS22104 nsv823701 6 55680415 55681012 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425801 S 31 1 0 "" AK4 nsv823702 6 55717144 55717893 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440388 S 31 0 1 "" NA18564 nsv885910 6 55736242 55792259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569719 S 6533 0 1 BMP5 IS31679 nsv830665 6 55863519 56028178 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445412 S 95 0 1 "" esv2346199 6 55863524 55863963 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760156 S 1 0 1 "" NA18507 nsv5312 6 55892950 55938010 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8251 S 9 0 1 "" NA12156 nsv885911 6 55897663 56251190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560604 S 6533 0 1 COL21A1 MS24587 nsv526703 6 55918441 56131770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703042 S 2026 0 1 COL21A1 esv29288 6 55934082 55954657 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13991 S 451 0 1 "" NA12878 esv2422049 6 55934096 55954486 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5086069,essv5067335,essv5117889,essv5054907,essv5157478,essv5038706,essv5030535,essv5139998,essv5074299,essv5122664,essv5118879,essv5122844,essv5053333,essv5035172,essv5128727,essv5056499,essv5155344,essv5030443,essv5074001 M 1184 0 19 "" NA07014,NA07031,NA07435,NA10836,NA10863,NA10864,NA11893,NA11930,NA12264,NA12341,NA12383,NA12843,NA12865,NA12875,NA12878,NA12891,NA19747,NA20347,NA20806 nsv442000 6 55934114 55951619 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514362 6 55934664 55951584 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627812 S 1414 0 1 "" esv2584235 6 55939014 56018076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273847 S 1 0 1 "" NA18507 nsv526771 6 55954486 56002094 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703123 S 2026 0 1 "" esv26863 6 55984732 55986396 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18834 S 451 1 0 "" NA19257 esv271275 6 56002434 56002510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546510,essv2577241,essv2554274,essv2558453,essv2519930,essv2519701,essv2559397,essv2578412,essv2573916,essv2572105,essv2526949,essv2537774 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11881,NA12043,NA12287,NA12750,NA12815,NA18566,NA18638,NA18940,NA18951,NA18973,NA19005 esv26735 6 56012029 56020759 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17318,esv14424 M 451 0 2 "" NA19147,NA19240 esv2559107 6 56014713 56016729 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382681 S 1 0 1 "" NA18507 nsv819041 6 56043476 56046717 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419520 S 2 1 0 COL21A1 AK1 esv27231 6 56072610 56073624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12713 S 451 0 1 COL21A1 NA12749 esv2427713 6 56102458 56102712 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370671 S 1 0 1 COL21A1 NA18507 esv993486 6 56183919 56183968 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578387 S 3 0 1 COL21A1 HuRef nsv349404 6 56183919 56183968 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367982 M 24 COL21A1 esv1388199 6 56183949 56183999 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060376 S 2 0 1 COL21A1 HuRef nsv5313 6 56200305 56201119 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2725 S 9 1 0 COL21A1 NA18555 esv1709854 6 56233368 56233368 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848366 S 2 1 0 "" HuRef esv259868 6 56253097 56256565 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400389 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18960 nsv823703 6 56290407 56297623 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435124 S 31 0 1 "" NA18942 esv1308099 6 56298219 56298219 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072344 S 2 1 0 "" HuRef esv1280549 6 56298312 56298312 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040273 S 2 1 0 "" HuRef esv1360636 6 56298572 56298572 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918722 S 2 1 0 "" HuRef esv1632571 6 56298610 56298610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837485 S 2 1 0 "" HuRef nsv830666 6 56351702 56527558 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445413 S 95 1 0 DST esv29090 6 56373294 56373780 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12046 S 451 0 1 "" NA11931 nsv885912 6 56435808 56566795 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517345 S 6533 0 1 DST SP57266 nsv820249 6 56578796 56579965 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419187 S 2 0 1 DST AK1 nsv5314 6 56644449 56677960 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4917 S 9 1 0 "" NA19129 esv267661 6 56810643 56810929 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511053,essv2503250,essv2495464,essv2508022,essv2499422,essv2505510,essv2512211,essv2495353,essv2503394,essv2503844,essv2495761,essv2513117 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA11831,NA11881,NA11919,NA12003,NA12044,NA12154,NA12155,NA12287,NA12716,NA12761 esv1047493 6 56810681 56810681 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030509 S 2 1 0 "" HuRef esv270813 6 56837212 56838370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496733,essv2510703,essv2504067,essv2509883,essv2496320,essv2493769,essv2494709,essv2506091,essv2505198,essv2499190,essv2510503 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18505,NA18508,NA18510,NA18517,NA18519,NA18523,NA18853,NA19114,NA19172 nsv508408 6 56843640 56881244 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617519 S 4 0 1 "" CHM nsv5315 6 56860001 56906720 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv552 S 9 0 1 "" NA19240 nsv436516 6 56862820 56869782 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466276 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv269381 6 56862854 56862972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504217,essv2509732,essv2493821,essv2513413,essv2509210,essv2506719 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18508,NA18517,NA18907,NA18909,NA19108 esv2555940 6 56865612 56869451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288739 S 1 0 1 "" NA18507 esv1002581 6 56866250 56875779 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565278 S 3 0 1 "" HuRef esv2081716 6 57006261 57006688 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948732 S 1 0 1 "" NA18507 esv25608 6 57006429 57006988 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19654 S 451 1 0 "" NA19108 esv1000998 6 57006446 57006505 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584331 S 3 0 1 "" HuRef esv1181814 6 57006446 57006506 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864766 S 2 0 1 "" HuRef esv2546663 6 57006447 57006506 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340847 S 1 0 1 "" NA18507 nsv349337 6 57006447 57006506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367915 M 24 "" nsv885913 6 57018843 57062398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500650 S 6533 0 1 KIAA1586 SP50084 nsv526143 6 57025497 57062398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702398 S 2026 0 1 KIAA1586 esv27854 6 57050891 57054354 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19950 S 451 0 3 "" NA18916,NA19099,NA19190 nsv350038 6 57061711 57068083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368616 M 24 ZNF451 nsv5316 6 57075452 57110519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv553 S 9 1 0 ZNF451 NA19240 nsv462949 6 57081861 57206932 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539000 S 1557 0 1 BAG2,RAB23,ZNF451 1780862206_A nsv528165 6 57212225 57238533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704714 S 2026 0 1 "" nsv522084 6 57267994 57273907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694054 S 2026 0 1 "" dgv1956e1 6 57292500 57670563 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12365,esv264 M 271 0 0 PRIM2 NA19138 esv2453782 6 57314957 57683548 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371589 S 1 1 0 PRIM2 NA18507 esv273418 6 57326820 57327243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580619 S 7 1 0 Samples from several populations that are part of the HapMap project. PRIM2 NA19238 esv1002659 6 57328186 57332987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564187 S 3 0 1 PRIM2 HuRef nsv470820 6 57332078 58183439 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544495,nssv544496 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRIM2 HGDP00922,HGDP00925 nsv885914 6 57332813 57472273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581677 S 6533 1 0 PRIM2 IS35682 nsv528053 6 57357936 57396889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704586 S 2026 0 1 PRIM2 nsv818418 6 57357936 57396889 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417538 S 112 1 0 PRIM2 NA10863 nsv885915 6 57357936 57530837 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574564 S 6533 1 0 PRIM2 IS33600 esv22079 6 57363427 57374636 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11688 S 451 1 0 PRIM2 NA19257 esv273180 6 57375401 57375656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580346,essv2578978,essv2579549 M 7 3 0 Samples from several populations that are part of the HapMap project. PRIM2 NA12891,NA19239,NA19240 esv271627 6 57375406 57375742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516688,essv2517513,essv2518822,essv2518543,essv2516121,essv2516185,essv2519048,essv2513857,essv2518901,essv2518295,essv2513641 M 157 11 0 Samples from several populations that are part of the HapMap project. PRIM2 NA07347,NA11881,NA11918,NA12045,NA12287,NA12873,NA12891,NA19141,NA19143,NA19239,NA19240 esv2591679 6 57377220 57378628 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257013 S 1 0 1 PRIM2 NA18507 esv1005755 6 57388127 57398909 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564605 S 3 0 1 PRIM2 HuRef esv2635100 6 57391915 57397508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316102 S 1 0 1 PRIM2 NA18507 dgv109n16 6 57392278 57397890 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435836,nsv436497 M 2 0 2 PRIM2 NA15510,NA18505 esv1930914 6 57392747 57397508 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532042 S 1 0 1 PRIM2 NA18507 nsv511884 6 57392752 57397677 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624417 S 1 0 1 PRIM2 1 esv6364 6 57392861 57397318 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28805 S 1 0 1 PRIM2 SJK esv988239 6 57401232 57409864 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564299 S 3 0 1 PRIM2 HuRef nsv435841 6 57402995 57409177 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466279 S 2 0 1 PRIM2 NA15510 esv1007913 6 57403041 57414243 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563699 S 3 0 1 PRIM2 HuRef esv2579565 6 57404658 57410168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165601 S 1 0 1 PRIM2 NA18507 nsv511885 6 57404782 57409557 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624418 S 1 0 1 PRIM2 1 dgv32e194 6 57405002 57409538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1987343,esv1945626 M 1 0 1 PRIM2 NA18507 esv9696 6 57405150 57409237 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32137 S 1 0 1 PRIM2 SJK nsv436502 6 57405269 57409314 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466280 S 2 0 1 Samples from several populations that are part of the HapMap project. PRIM2 NA18505 nsv515916 6 57407051 58183439 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674856,nssv665299,nssv685995,nssv695417,nssv688375,nssv695845,nssv697427 M 2026 5 2 PRIM2 esv2408738 6 57409224 57409622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603480 S 1 0 1 PRIM2 NA18507 nsv510916 6 57415421 57465009 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621589 S 4 0 0 PRIM2 NA15510 dgv6851n71 6 57416919 57503129 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885916,nsv885917,nsv885918 M 6533 3 0 PRIM2 SP50936,SP51350,SP52881 nsv349821 6 57419061 57419175 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368399 M 24 PRIM2 nsv510030 6 57430418 57436418 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624001,nssv622113 M 4 0 2 PRIM2 NA10860,NA18994 dgv6852n71 6 57438279 57503129 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885920,nsv885919,nsv885921 M 6533 3 0 PRIM2 IS30180,IS36910,IS39656 nsv885922 6 57438279 57530837 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570058,nssv1578239,nssv1600992,nssv1601146,nssv1587155,nssv1565718,nssv1572182,nssv1584136,nssv1569645,nssv1568404,nssv1585182,nssv1598676,nssv1581095,nssv1566660,nssv1565246,nssv1572728,nssv1566494,nssv1575602,nssv1594620,nssv1598860,nssv1580386,nssv1580993,nssv1566400,nssv1598974,nssv1589870,nssv1582055,nssv1567894,nssv1599175,nssv1573595,nssv1601097,nssv1600856,nssv1598800,nssv1593977,nssv1586597,nssv1588301,nssv1569527,nssv1569805,nssv1575773,nssv1582891,nssv1565520 M 6533 40 0 PRIM2 IS30369,IS30435,IS30508,IS30683,IS30763,IS30835,IS31169,IS31282,IS31602,IS31652,IS31712,IS31768,IS32888,IS33162,IS33455,IS33776,IS33797,IS34742,IS35287,IS35484,IS35498,IS35782,IS36196,IS36876,IS37329,IS37874,IS37987,IS38176,IS38419,IS39647,IS39944,IS40877,IS41043,IS41045,IS41243,IS41410,IS41934,IS41955,IS41968,IS41973 nsv510031 6 57451995 57457995 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624002,nssv622114 M 4 0 2 PRIM2 NA10860,NA18994 nsv885923 6 57455456 57884121 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568997 S 6533 1 0 PRIM2 IS31385 nsv348886 6 57459000 57459061 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367464 M 24 PRIM2 nsv885924 6 57469580 57688739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592633 S 6533 1 0 PRIM2 IS39243 dgv6853n71 6 57477045 57530837 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885926,nsv885925 M 6533 2 0 PRIM2 SP53448,SP55670 nsv5317 6 57489119 57529716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv554,nssv2592,nssv3440,nssv4918 M 9 4 0 PRIM2 NA12878,NA18555,NA19129,NA19240 esv2210153 6 57489635 57490234 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960066 S 1 0 1 PRIM2 NA18507 nsv349838 6 57489825 57490058 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368416 M 24 PRIM2 esv5549 6 57489828 57490088 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27990 S 1 0 1 PRIM2 SJK nsv510900 6 57497034 57547730 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621590 S 4 0 0 PRIM2 NA15510 nsv510032 6 57498419 57504419 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622115,nssv624003 M 4 0 2 PRIM2 NA10860,NA18994 esv996416 6 57500114 57500651 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564348 S 3 1 0 PRIM2 HuRef nsv511355 6 57503129 57508751 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625845 S 1 0 1 PRIM2 1 dgv6854n71 6 57503129 57589268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885928,nsv885927 M 6533 0 2 PRIM2 SP54442,SP56143 esv7406 6 57511376 57511442 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29847 S 1 1 0 PRIM2 SJK esv271614 6 57511471 57511806 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514654,essv2516648,essv2519247,essv2517389,essv2516987,essv2518799,essv2515468,essv2518640,essv2515116,essv2516505,essv2515706,essv2518042,essv2515905,essv2514214,essv2517805,essv2516240,essv2516932,essv2515825,essv2513758,essv2515198,essv2518881,essv2518357,essv2513662 M 157 23 0 Samples from several populations that are part of the HapMap project. PRIM2 NA07347,NA11840,NA11881,NA11894,NA11918,NA11931,NA12045,NA12249,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18969,NA19143,NA19238,NA19239,NA19240 esv273851 6 57511476 57511801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583957,essv2583890 M 7 2 0 Samples from several populations that are part of the HapMap project. PRIM2 NA19238,NA19240 nsv510033 6 57520063 57526063 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622116,nssv624004 M 4 0 2 PRIM2 NA10860,NA18994 esv992580 6 57529493 57537756 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564795 S 3 0 1 PRIM2 HuRef dgv110n16 6 57529965 57538902 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436499,nsv435832 M 2 0 2 PRIM2 NA15510,NA18505 nsv507331 6 57530186 57536186 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622971,nssv621837 M 4 2 0 PRIM2 NA10860,NA18994 esv2461595 6 57530257 57537681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310912 S 1 0 1 PRIM2 NA18507 esv2360931 6 57530839 57537295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548523 S 1 0 1 PRIM2 NA18507 nsv511886 6 57530932 57537081 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624419 S 1 0 1 PRIM2 1 nsv348789 6 57531028 57537079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367367 M 24 PRIM2 esv6947 6 57531048 57537082 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29388 S 1 0 1 PRIM2 SJK nsv348976 6 57544040 57551692 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367554 M 24 PRIM2 esv267945 6 57552895 57553236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514631,essv2516662,essv2519169,essv2517505,essv2516959,essv2518713,essv2515348,essv2514923,essv2515721,essv2518038,essv2517673,essv2516286,essv2516909,essv2519041,essv2515280,essv2518864,essv2518382,essv2513653 M 157 18 0 Samples from several populations that are part of the HapMap project. PRIM2 NA07347,NA11840,NA11881,NA11894,NA11918,NA11931,NA12045,NA12249,NA12812,NA12815,NA12872,NA12878,NA12891,NA12892,NA19141,NA19238,NA19239,NA19240 esv273640 6 57552898 57553231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581818,essv2582383,essv2583178,essv2584274,essv2584703 M 7 5 0 Samples from several populations that are part of the HapMap project. PRIM2 NA12878,NA12891,NA12892,NA19238,NA19239 nsv511887 6 57556361 57559432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624420 S 1 0 1 PRIM2 1 esv2565104 6 57556645 57558325 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388114 S 1 0 1 PRIM2 NA18507 dgv6855n71 6 57562265 57858239 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885932,nsv885931,nsv885929,nsv885930,nsv885933 M 6533 8 0 PRIM2 MS11054,MS11537,MS11550,MS16168,MS16447,MS17275,MS22728,MS24872 nsv5318 6 57566113 57585328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8252 S 9 0 1 PRIM2 NA12156 esv7702 6 57570158 57572991 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30143 S 1 0 0 PRIM2 SJK esv273621 6 57573164 57573496 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581359 S 7 1 0 Samples from several populations that are part of the HapMap project. PRIM2 NA12878 nsv511888 6 57585428 57587493 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624421 S 1 0 1 PRIM2 1 esv2549118 6 57585853 57587305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199267 S 1 0 1 PRIM2 NA18507 esv1949021 6 57585918 57587031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910693 S 1 0 1 PRIM2 NA18507 esv8489 6 57586122 57586812 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30930 S 1 0 1 PRIM2 SJK esv1008673 6 57589619 57589672 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585880 S 3 0 1 PRIM2 HuRef esv2458880 6 57596731 57598233 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386106 S 1 0 1 PRIM2 NA18507 esv1005437 6 57600710 57604124 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565237 S 3 1 0 PRIM2 HuRef dgv6856n71 6 57603174 57981200 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885935,nsv885940,nsv885934 M 6533 3 0 PRIM2 IS40879,MS20269,SP51350 dgv6857n71 6 57603174 58252516 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885938,nsv885937,nsv885943,nsv885936 M 6533 4 0 PRIM2 IS38285,IS38513,MS12129,MS16048 esv271524 6 57617238 57617571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558186,essv2565639,essv2540913,essv2521303,essv2525887,essv2536602,essv2544122,essv2570919,essv2556781,essv2568097,essv2545622,essv2523092,essv2531679,essv2570361,essv2548217,essv2521583,essv2576542,essv2525443,essv2550333,essv2535201,essv2554259,essv2544374,essv2552311,essv2520442,essv2547578,essv2529157,essv2558672,essv2564512,essv2578006,essv2553840,essv2559665,essv2565497,essv2520073,essv2563953,essv2530593,essv2562045,essv2537265,essv2528429,essv2546761,essv2540049,essv2520803,essv2557386,essv2556958,essv2551828,essv2532056,essv2562629,essv2578711,essv2536869,essv2538907,essv2569713,essv2527167,essv2561592,essv2544602,essv2562949,essv2523579,essv2541267,essv2538252,essv2542822,essv2540263,essv2524458,essv2564940,essv2534624,essv2561060,essv2539718,essv2549585,essv2519739,essv2522229,essv2566293,essv2530987,essv2567707,essv2528668,essv2567481,essv2541787,essv2570056,essv2563733,essv2553123,essv2535587,essv2572548,essv2558960,essv2566910,essv2542064,essv2551170,essv2568898,essv2543749,essv2556341,essv2527848,essv2562435,essv2539400,essv2533911,essv2578315,essv2573266,essv2533549,essv2555722,essv2557666,essv2556044,essv2534436,essv2531410,essv2573527,essv2543050,essv2577129,essv2572066,essv2525699,essv2529528,essv2575752,essv2575284,essv2538780,essv2526684,essv2560793,essv2524247,essv2574839,essv2572867,essv2568741,essv2560432,essv2549931,essv2571235,essv2546071,essv2574532,essv2551594,essv2536022,essv2537827,essv2548949,essv2533189,essv2554539,essv2547639,essv2525055,essv2563274 M 157 126 0 Samples from several populations that are part of the HapMap project. PRIM2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11894,NA11918,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272664 6 57617238 57617571 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582107,essv2582585,essv2582771,essv2584250,essv2584573,essv2583512 M 7 6 0 Samples from several populations that are part of the HapMap project. PRIM2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv26191 6 57640531 58195582 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12402,esv14857,esv12251,esv11883,esv11620,esv17454 M 451 23 2 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12004,NA12006,NA12287,NA12749,NA12776,NA12828,NA18502,NA18511,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19257 nsv511889 6 57640693 57642228 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624423 S 1 0 1 "" 1 esv1607185 6 57641781 57641781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843134 S 2 1 0 "" HuRef dgv754n27 6 57643552 58183439 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462953,nsv462954,nsv462952 M 1557 3 0 "" HGDP00540,HGDP00925,HGDP01379 nsv462955 6 57643552 58878583 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539006 S 1557 1 0 GUSBP4 1782681080_A esv2040379 6 57648485 57648904 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918616 S 1 0 1 "" NA18507 esv2572172 6 57648641 57648744 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375444 S 1 0 1 "" NA18507 esv2614219 6 57661448 57662920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264820 S 1 0 1 "" NA18507 esv1951471 6 57661650 57662100 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672935 S 1 0 1 "" NA18507 dgv6858n71 6 57665569 57828508 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885941,nsv885939 M 6533 3 0 "" MS10183,MS18406,MS23577 nsv510918 6 57672389 58262429 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621591,nssv622375,nssv624307 M 4 0 0 "" NA10860,NA15510,NA18994 nsv348901 6 57681846 57681846 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367479 M 24 "" esv2496535 6 57690642 57698730 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340892 S 1 0 1 "" NA18507 nsv511890 6 57691278 57698598 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624424 S 1 0 1 "" 1 nsv436504 6 57691319 57698284 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466283 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv9673 6 57691646 57698251 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32114 S 1 0 1 "" SJK nsv885942 6 57701929 57793621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513286 S 6533 1 0 "" SP55715 nsv5319 6 57703789 57746879 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3441,nssv2593 M 9 0 2 "" NA12878,NA18555 nsv819419 6 57716131 57718485 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419421 S 2 1 0 "" AK1 dgv120n17 6 57726399 57740953 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436997,nsv436995,nsv436996 M 60 0 3 "" NA10835,NA10854,NA12740 esv2335898 6 57726455 57727032 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788732 S 1 0 1 "" NA18507 nsv349257 6 57726643 57726841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367835 M 24 "" esv2517757 6 57730583 57736847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176404 S 1 0 1 "" NA18507 dgv111n16 6 57730598 57738196 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435828,nsv436525 M 2 0 2 "" NA15510,NA18505 nsv499613 6 57730836 57736013 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585984 S 9 0 1 "" nsv820747 6 57731028 57737248 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420588 S 1 0 1 "" NA10851 dgv6859n71 6 57733714 57828508 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885945,nsv885946,nsv885944 M 6533 3 0 "" MS11715,MS19746,MS24390 esv2752127 6 57785800 58147200 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985490,essv6981141 M 771 1 0 "" BEC_358 nsv436517 6 57804133 58404124 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466287 S 2 0 1 Samples from several populations that are part of the HapMap project. GUSBP4 NA18505 nsv885947 6 57828508 57916782 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574565,nssv1589134 M 6533 2 0 "" IS33600,IS38293 nsv885948 6 57828508 57988851 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592634 S 6533 1 0 "" IS39243 dgv6860n71 6 57828508 58252516 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885952,nsv885954,nsv885953,nsv885951,nsv885949 M 6533 5 0 "" IS38016,MS10183,MS18406,MS20698,MS24872 nsv349153 6 57841688 57841783 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367731 M 24 "" nsv349944 6 57846571 57846680 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368522 M 24 "" nsv885950 6 57858239 57944363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522493 S 6533 1 0 "" SP53154 nsv436890 6 57964293 58563447 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466288 S 2 1 0 Samples from several populations that are part of the HapMap project. GUSBP4 NA18505 dgv6861n71 6 57981637 58252516 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv885963,nsv885955,nsv885957 M 6533 9 0 "" MS11537,MS11550,MS11715,MS16447,MS17275,MS19746,MS20269,MS22728,MS24083 nsv885956 6 57994608 58252516 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543941,nssv1579519,nssv1597536,nssv1560249 M 6533 3 1 "" IS35127,IS40879,MS16168,MS24390 nsv435830 6 58020680 58623783 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466289 S 2 0 1 GUSBP4 NA15510 nsv436761 6 58031357 58032551 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466290 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv6862n71 6 58036833 58183439 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885960,nsv885958,nsv885959,nsv885961 M 6533 0 5 "" IS32615,IS38637,IS40657,MS21706,MS23495 nsv885962 6 58040768 58188685 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539755 S 6533 1 0 "" MS14488 nsv469799 6 58050529 58192443 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649820 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv436760 6 58058405 58071240 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466291 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv885964 6 58095259 58252516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533218 S 6533 1 0 "" MS11054 nsv821647 6 58175273 58786186 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421187 S 31 0 1 GUSBP4 nsv885965 6 58183439 58416914 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522494 S 6533 1 0 GUSBP4 SP53154 nsv523720 6 58183439 58878583 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699534 S 2026 1 0 GUSBP4 nsv428148 6 58245619 58514876 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450750 S 62 1 0 GUSBP4 HGDP00463 esv28541 6 58245653 58247494 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17802 S 451 0 1 "" NA19257 esv26088 6 58247494 58259870 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11438 S 451 2 0 "" NA18502,NA19190 nsv830667 6 58251869 58366665 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445414 S 95 1 0 GUSBP4 nsv5320 6 58252170 58262904 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2595,nssv10501 M 9 2 0 "" NA18555,NA18956 esv23042 6 58294794 58298872 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9918 S 451 0 2 "" NA18511,NA19108 nsv7904 6 58296123 58299140 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16513 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv7905 6 58325965 58342728 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15972 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv885966 6 58346195 58441249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594651 S 6533 1 0 GUSBP4 IS39971 nsv7906 6 58351632 58378032 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15481,nssv15216,nssv13660,nssv14986,nssv15609,nssv16853,nssv15668 M 31 0 7 Samples from several populations that are part of the HapMap project. GUSBP4 NA10863,NA12155,NA12740,NA12802,NA18552,NA18972,NA19240 esv22645 6 58352054 58382297 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13110,esv18972 M 451 4 5 GUSBP4 NA06985,NA07037,NA11931,NA12004,NA12044,NA12287,NA12878,NA18505,NA18508 nsv462956 6 58380582 58465653 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539007 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GUSBP4 HGDP00939 nsv527797 6 58386857 58476590 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704289 S 2026 1 0 GUSBP4 nsv462957 6 58393879 58878583 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539008 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GUSBP4 HGDP00208 esv24047 6 58409775 58422369 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14947 S 451 0 1 "" NA18907 nsv517736 6 58412859 58416914 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670177,nssv661945,nssv653046 M 2026 0 3 "" dgv1957e1 6 58442668 58587658 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21047,esv246 M 271 0 0 "" NA06991 nsv830668 6 58483534 58667977 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445415 S 95 0 1 "" nsv5322 6 58511449 58538366 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3442 S 9 0 1 "" NA12878 esv22931 6 58531691 58536763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21381 S 451 0 2 "" NA11993,NA12414 nsv499682 6 58531808 58536826 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585985 S 9 0 1 "" nsv442001 6 58534011 58535028 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28572 6 58585804 58594447 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17500 S 451 1 0 "" NA19257 esv1462431 6 58613415 58613415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923723 S 2 1 0 "" HuRef nsv349573 6 58634207 58634275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368151 M 24 "" esv21890 6 58674215 58699393 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18408 S 451 1 0 "" NA11993 nsv516156 6 58675121 58715776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678021,nssv666527,nssv690084,nssv686849,nssv691401,nssv686652,nssv673692,nssv686188,nssv659026,nssv674422,nssv660803,nssv666802,nssv690417,nssv654298,nssv690113,nssv670259,nssv656710,nssv677104 M 2026 0 18 "" esv23693 6 58714503 58716178 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10471 S 451 0 4 "" NA18511,NA18909,NA18916,NA19190 nsv469832 6 58720760 58881661 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649853 M 265 0 0 Samples from several populations that are part of the HapMap project. "" esv21495 6 58726284 58732164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18806 S 451 0 1 "" NA12044 esv23821 6 58822358 58888091 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13666,esv14420,esv16605 M 451 1 21 "" NA07045,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12489,NA12749,NA12776,NA12828,NA12878,NA18508,NA18511,NA18861,NA18909,NA18916,NA19108,NA19190,NA19240,NA19257 nsv527572 6 58822896 58878583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704033 S 2026 0 1 "" nsv821263 6 58881329 58888091 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420589 S 1 1 0 "" NA10851 esv4510 6 58881872 58887700 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26951 S 1 0 0 Single Asian sample YH "" YH esv2440024 6 58881886 58886683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265622 S 1 0 1 "" NA18507 dgv108e19 6 58882397 58886826 CNV Loss Ahn et al 2009 19470904 Sequencing esv5877,esv5564,esv6861,esv8948 M 1 0 1 "" SJK esv8678 6 58883439 58886113 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31119 S 1 0 1 "" SJK esv2574971 6 58883483 58883822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278140 S 1 0 1 "" NA18507 esv6665 6 58883666 58884535 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29106 S 1 0 1 "" SJK esv6387 6 58884195 58884774 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28828 S 1 0 1 "" SJK esv8387 6 58884587 58884650 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30828 S 1 1 0 "" SJK esv6537 6 58884616 58886826 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28978 S 1 0 1 "" SJK esv6078 6 58884696 58884763 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28519 S 1 1 0 "" SJK esv9323 6 58884720 58884822 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31764 S 1 1 0 "" SJK esv9247 6 58884939 58885034 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31688 S 1 1 0 "" SJK esv6929 6 58885248 58885310 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29370 S 1 1 0 "" SJK esv270838 6 58885285 58885370 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513901 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv9398 6 58885371 58885423 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31839 S 1 1 0 "" SJK esv6900 6 58885468 58885544 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29341 S 1 1 0 "" SJK dgv112n16 6 58885799 58886064 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436797,nsv435942 M 2 2 0 "" NA15510,NA18505 esv7140 6 58886027 58886093 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29581 S 1 1 0 "" SJK esv5582 6 58886190 58886241 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28023 S 1 1 0 "" SJK esv6473 6 58886287 58886359 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28914 S 1 1 0 "" SJK dgv109e19 6 58886304 58886379 CNV Gain Ahn et al 2009 19470904 Sequencing esv8332,esv9194,esv6801 M 1 1 0 "" SJK esv8033 6 58886362 58886415 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30474 S 1 1 0 "" SJK esv9720 6 58886441 58886553 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32161 S 1 1 0 "" SJK esv8623 6 58886487 58886556 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31064 S 1 1 0 "" SJK dgv110e19 6 58886529 58886610 CNV Gain Ahn et al 2009 19470904 Sequencing esv7753,esv7319 M 1 1 0 "" SJK esv8259 6 58886617 58886672 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30700 S 1 1 0 "" SJK esv271064 6 58886633 58886718 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517950,essv2517366 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA18970 esv5897 6 58886674 58886746 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28338 S 1 1 0 "" SJK esv8574 6 58886745 58886819 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31015 S 1 1 0 "" SJK esv6256 6 58887013 58887067 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28697 S 1 1 0 "" SJK esv2631522 6 58887422 58887761 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292504 S 1 0 1 "" NA18507 esv22871 6 61938219 62186197 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19219,esv18613 M 451 4 0 "" NA06985,NA11931,NA18523,NA19257 nsv520179 6 61949597 63068811 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703677,nssv699535,nssv704898,nssv675117,nssv705147,nssv697923,nssv695525,nssv688376,nssv661390,nssv674857 M 2026 3 7 KHDRBS2 nsv830669 6 61953431 61972045 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445420,nssv1445419,nssv1445416,nssv1445417 M 95 0 4 "" esv2463749 6 61958268 61962879 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288909 S 1 0 1 "" NA18507 nsv462959 6 62021131 62098264 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539009 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01379 dgv755n27 6 62021131 62530088 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462960,nsv462964 M 1557 2 0 KHDRBS2 1782681080_A,HGDP00540 nsv350085 6 62028721 62028818 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368663 M 24 "" esv2752128 6 62030184 62153725 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985491,essv6981142 M 771 1 0 "" BEC_358 nsv462965 6 62041993 62118323 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539013 S 1557 0 1 "" 1782681096_A nsv5323 6 62072801 62079782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2726 S 9 1 0 "" NA18555 esv1094688 6 62087829 62087829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190486 S 2 1 0 "" HuRef nsv5324 6 62091095 62097321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8253 S 9 0 1 "" NA12156 nsv349164 6 62103404 62103561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367742 M 24 "" esv1975656 6 62111767 62112458 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4967581 S 1 0 1 "" NA18507 esv3287 6 62111919 62112321 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25728 S 1 0 1 Single Asian sample YH "" YH esv8724 6 62111953 62112259 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31165 S 1 0 1 "" SJK esv1369437 6 62111953 62112274 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638158 S 2 0 1 "" HuRef nsv819069 6 62122152 62281216 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418873 S 2 1 0 "" AK1 nsv821648 6 62143728 62415691 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421188 S 31 0 1 "" esv21623 6 62236747 62977374 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17049,esv18268,esv11111 M 451 2 2 KHDRBS2 NA11931,NA12006,NA18858,NA19257 nsv7907 6 62334618 62344961 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13361,nssv14372,nssv15511,nssv14475,nssv14360,nssv13690 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA12802,NA12872,NA18537,NA18853,NA19240 esv3647 6 62336765 62336987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26088 S 1 0 1 Single Asian sample YH "" YH esv1465514 6 62336843 62336919 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917341 S 2 0 1 "" HuRef esv2177354 6 62347550 62347973 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531895 S 1 0 1 "" NA18507 nsv823704 6 62447790 62448317 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436666 S 31 0 1 KHDRBS2 NA18542 nsv462966 6 62718338 62748639 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539014 S 1557 1 0 KHDRBS2 NINDS_216 esv1332559 6 62722560 62722712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005016 S 2 0 1 KHDRBS2 HuRef esv1257101 6 62723388 62723486 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700972 S 2 0 1 KHDRBS2 HuRef esv2071676 6 62890442 62890952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889288 S 1 0 1 KHDRBS2 NA18507 esv33001 6 62982682 62986171 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98478 S 51 0 1 KHDRBS2 22352 nsv442002 6 62983601 62986263 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KHDRBS2 nsv514363 6 62983604 62986272 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627813 S 1414 0 1 KHDRBS2 dgv382n21 6 63102106 63102769 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522283,nsv526293 M 2026 0 2 "" esv27975 6 63106573 63107857 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17123 S 451 0 1 "" NA19108 nsv462967 6 63127022 63231252 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539015 S 1557 0 1 "" NINDS_125 esv27890 6 63199230 63213128 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9893 S 451 1 0 "" NA19257 dgv6863n71 6 63210683 63730159 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885973,nsv885967,nsv885972,nsv885968,nsv885971,nsv885974 M 6533 0 6 "" IS31285,IS33196,IS36219,IS36533,IS36787,IS41043 nsv818419 6 63218749 63231252 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418461 S 112 0 1 "" NA19193 esv23684 6 63277117 63283155 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13378 S 451 1 0 "" NA18907 esv259777 6 63277178 63283022 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397920 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18907 dgv6864n71 6 63281150 63554150 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885969,nsv885970 M 6533 0 2 "" IS30667,MS12947 dgv6865n71 6 63367547 63663180 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885977,nsv885978,nsv885975 M 6533 0 4 "" IS31706,IS32607,IS33864,IS35911 nsv885976 6 63388555 63554150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579409 S 6533 0 1 "" IS35100 esv273947 6 63426127 63432202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580753 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268569 6 63426137 63432218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565877,essv2576095,essv2571685,essv2546460,essv2525868,essv2577228,essv2570374,essv2548398,essv2576569,essv2544362,essv2547214,essv2558679,essv2564452,essv2577782,essv2576145,essv2555022,essv2569605,essv2544684,essv2540245,essv2534757,essv2559913,essv2532889,essv2567655,essv2541591,essv2570305,essv2553342,essv2578283,essv2567241,essv2573897,essv2527462,essv2556001,essv2573526,essv2543089,essv2572173,essv2571294,essv2549096,essv2554605,essv2547690 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07347,NA11829,NA11830,NA11840,NA11881,NA11918,NA12043,NA12044,NA12045,NA12154,NA12414,NA12717,NA12750,NA12751,NA12761,NA12814,NA12872,NA18508,NA18526,NA18552,NA18561,NA18570,NA18576,NA18577,NA18592,NA18593,NA18605,NA18940,NA18947,NA18951,NA18952,NA18956,NA18964,NA18965,NA18973,NA19238 nsv470821 6 63438119 63587390 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544497 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv885979 6 63438620 63811616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567770 S 6533 0 1 "" IS31145 esv268216 6 63481344 63481450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510640,essv2506129,essv2505314,essv2506619 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18523,NA18853,NA19108 dgv6866n71 6 63483125 63650840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885981,nsv885980 M 6533 0 2 "" IS37065,IS38162 dgv6867n71 6 63518006 63716022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885983,nsv885982 M 6533 0 2 "" IS38207,SP54622 esv2442562 6 63550705 63552706 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228091 S 1 0 1 "" NA18507 nsv821649 6 63569838 63946210 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421189 S 31 0 1 "" nsv509136 6 63589193 63665312 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620852 S 4 1 0 "" NA15510 esv273394 6 63589545 63589630 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581288 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv6868n71 6 63592271 63832344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885984,nsv885985,nsv885986 M 6533 0 3 "" IS35498,IS40067,MS19634 esv2608728 6 63598731 63599453 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372888 S 1 1 0 "" NA18507 esv1033715 6 63598922 63598922 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357057 S 2 1 0 "" HuRef nsv349295 6 63598923 63598923 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367873 M 24 "" nsv885987 6 63643099 63688718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512892 S 6533 0 1 "" SP55650 nsv511341 6 63654071 63658285 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625688 S 1 1 0 "" 1 nsv819335 6 63654980 63657544 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419444 S 2 0 1 "" AK1 dgv1047n67 6 63655441 63656816 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823705,nsv823706 M 31 0 20 "" AK10,AK12,AK18,AK2,AK4,NA18526,NA18537,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18999 nsv7908 6 63655444 63658683 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14853,nssv14456,nssv14002,nssv13391 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA12872,NA18942,NA19007 esv28445 6 63655618 63657565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20439,esv15225 M 451 0 10 "" NA07037,NA07045,NA12004,NA12006,NA12156,NA12414,NA12776,NA18517,NA18523,NA19108 nsv7909 6 63665283 63668082 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16551 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv885988 6 63673298 63888718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532879,nssv1568392 M 6533 0 2 "" IS31282,MS10910 dgv6869n71 6 63716022 63804250 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885989,nsv885990 M 6533 0 2 "" IS31634,MS17114 nsv830672 6 63731296 63833388 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445422 S 95 0 1 "" nsv508409 6 63763923 63781827 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622549 S 4 0 1 "" NA18994 dgv1958e1 6 63764581 64043848 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv534,essv3519 M 271 0 0 LGSN NA18965 nsv507332 6 63766054 63772054 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617707 S 4 1 0 "" CHM esv34515 6 63781300 63907733 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987022,essv6980162,essv6980161,essv6980160 M 771 1 0 "" NA18965 essv2734 6 63781337 63929207 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18965 nsv885991 6 63784736 63844558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550823 S 6533 0 1 "" MS18620 nsv818420 6 63784736 63894599 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417500 S 112 1 0 "" NA18965 nsv885992 6 63791454 63921393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601109 S 6533 0 1 "" IS41971 nsv5325 6 63791668 63836475 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8254 S 9 0 1 "" NA12156 esv271332 6 63796175 63796499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517370 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv5326 6 63809731 63842841 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4920 S 9 1 0 "" NA19129 nsv507333 6 63817385 63823385 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621838,nssv617708,nssv622972 M 4 3 0 "" CHM,NA10860,NA18994 esv1364445 6 63820203 63820203 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676685 S 2 1 0 "" HuRef nsv830673 6 63891522 63997136 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445423 S 95 1 0 "" essv2741 6 63956681 63961313 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18965 esv33308 6 63977316 64014338 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100894 S 51 0 1 "" 21656 nsv517212 6 63989580 64006264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676944,nssv654021,nssv665239,nssv675151 M 2026 0 4 "" nsv510034 6 64282363 64288363 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622118 S 4 0 1 "" NA10860 nsv830674 6 64413371 64593760 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445424,nssv1445425 M 95 1 1 EYS,PHF3 esv26838 6 64724969 64726239 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16027 S 451 0 4 EYS NA07045,NA11995,NA12156,NA12414 nsv820168 6 64725166 64727377 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419400 S 2 0 1 EYS AK1 nsv823707 6 64725238 64726079 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433186,nssv1421748,nssv1425023,nssv1438190,nssv1429856,nssv1441104,nssv1430621,nssv1422644,nssv1439712,nssv1428326,nssv1431355,nssv1427526 M 31 0 12 EYS AK10,AK14,AK16,AK18,AK2,AK8,NA18537,NA18552,NA18592,NA18951,NA18969,NA18997 dgv6870n71 6 64943817 65139302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv885993,nsv885996,nsv885995 M 6533 0 3 EYS IS30539,IS31419,IS35498 nsv885994 6 64970057 65019532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590125 S 6533 0 1 EYS IS38463 nsv885997 6 64978453 65056280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576175 S 6533 0 1 EYS IS33894 nsv885998 6 65001850 67075448 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588977 S 6533 1 0 EYS,MCART3P IS38271 nsv885999 6 65004128 65283818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564132 S 6533 0 1 EYS IS30171 nsv886000 6 65013927 65139302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546133 S 6533 0 1 EYS MS17114 nsv462968 6 65029395 65076644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539016 S 1557 0 1 EYS NINDS_222 nsv5327 6 65040476 65082479 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv556,nssv9891,nssv4921,nssv3443,nssv10502 M 9 5 0 EYS NA12878,NA18507,NA18956,NA19129,NA19240 nsv510901 6 65054349 65074972 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618651,nssv624308 M 4 0 0 EYS CHM,NA18994 nsv507334 6 65055267 65061267 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621839 S 4 1 0 EYS NA10860 nsv512882 6 65058532 65058829 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625526 S 1 1 0 EYS 1 esv991948 6 65062186 65063181 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565719 S 3 1 0 EYS HuRef nsv499459 6 65063278 65063432 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586489 S 9 1 0 EYS esv1031312 6 65064383 65064477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227777 S 2 0 1 EYS HuRef nsv524118 6 65066483 65119571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699996 S 2026 0 1 EYS nsv886001 6 65066483 65139302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575810 S 6533 0 1 EYS IS33811 esv2190774 6 65072231 65072656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984626 S 1 0 1 EYS NA18507 esv3970 6 65072306 65072612 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26411 S 1 0 1 Single Asian sample YH EYS YH nsv830675 6 65092091 65280065 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445426 S 95 1 0 EYS nsv512883 6 65154381 65155526 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625527 S 1 1 0 EYS 1 esv1722623 6 65155341 65155341 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589150 S 2 1 0 EYS HuRef esv271509 6 65202215 65202569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497774,essv2499922,essv2504538,essv2507805,essv2508419,essv2508647,essv2503556,essv2495176,essv2502713 M 157 9 0 Samples from several populations that are part of the HapMap project. EYS NA18555,NA18562,NA18563,NA18564,NA18582,NA18592,NA18947,NA18964,NA18965 esv990348 6 65241873 65242186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579042 S 3 0 1 EYS HuRef esv1465574 6 65241883 65242197 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129287 S 2 0 1 EYS HuRef nsv886002 6 65301730 65364155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517985 S 6533 1 0 EYS SP57418 nsv462971 6 65310924 65400187 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539017 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP01074 nsv462972 6 65322828 65413104 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539018 S 1557 0 1 EYS 1780854576_A nsv886003 6 65334845 65423285 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582953 S 6533 0 1 EYS IS36219 dgv6871n71 6 65378410 65481582 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886004,nsv886005 M 6533 0 4 EYS IS30539,IS33580,IS41043,MS10727 nsv508410 6 65398490 65416742 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617521,nssv619974 M 4 0 2 EYS CHM,NA15510 esv28555 6 65401412 65406139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15028,esv16489,esv19411 M 451 0 34 EYS NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1011340 6 65401423 65407607 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564735 S 3 0 1 EYS HuRef nsv436501 6 65401929 65407393 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466296 S 2 0 1 Samples from several populations that are part of the HapMap project. EYS NA18505 nsv511891 6 65402439 65406976 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624425 S 1 0 1 EYS 1 nsv819675 6 65402846 65406748 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419587 S 2 0 1 EYS AK1 nsv823708 6 65404018 65406217 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437469,nssv1438191,nssv1433697,nssv1432902,nssv1425803,nssv1435126,nssv1426964,nssv1440373,nssv1429105,nssv1428327,nssv1432092,nssv1436667,nssv1433197,nssv1440390,nssv1435905 M 31 0 15 EYS AK10,AK12,AK20,AK4,NA18526,NA18542,NA18547,NA18564,NA18566,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972 esv2422086 6 65404265 65406119 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5054828,essv5108076,essv5076338,essv5032994,essv5117877,essv5076858,essv5060620,essv5016661,essv5135223,essv5063701,essv5113599,essv5008972,essv5021798,essv5051120,essv5018742,essv5129948,essv5005662,essv5003390,essv5135996,essv5004741,essv5033421,essv5040301,essv5075400,essv5109537,essv5039602,essv5084235,essv5079637,essv5079203,essv5111888,essv5055391,essv5159205,essv5091343,essv5060734,essv5152980,essv5108992,essv5052368,essv5141220,essv5008940,essv5007195,essv5075180,essv5124309,essv5089690,essv5091607,essv5153584,essv5035537,essv5071702,essv5078875,essv5111127,essv5068536,essv5106591,essv5005406,essv5105663,essv5119988,essv5080392,essv5158984,essv5122237,essv5129981,essv5105636,essv5091906,essv5124353,essv5041384,essv5089213,essv5008856,essv5146323,essv5116390,essv5081921,essv5148211,essv5110731,essv5138285,essv5002158,essv5026793,essv5028186,essv5019409,essv5102945,essv5140475,essv5020106,essv5059358,essv5067238,essv5063336,essv5056639,essv5047755,essv5052381,essv5085475,essv5037670,essv5125385,essv5033568,essv5072165,essv5084204,essv5005435,essv5092688,essv5106381,essv5145908,essv5103414,essv5067694,essv5022993,essv5148739,essv5078379,essv5027881,essv5013885,essv5090555,essv5026311,essv5064735,essv5014213,essv5046735,essv5157879,essv5130202,essv5053866,essv5054270,essv5129670,essv5119745,essv5031854,essv5030787,essv5035423,essv5130288,essv5110137,essv5103094,essv5005114,essv5110040,essv5020428,essv5006290,essv5084224,essv5128973,essv5065451,essv5036133,essv5094098,essv5068549,essv5120970,essv5118747,essv5135227,essv5045568,essv5117676,essv5026806,essv5150337,essv5007225,essv5012970,essv5023710,essv5140232,essv5098706,essv5126218,essv5089762,essv5133241,essv5062558,essv5135552,essv5080503,essv5080020,essv5011586,essv5009840,essv5076509,essv5155719,essv5085424,essv5048248,essv5146377,essv5134758,essv5077150,essv5064123,essv5051164,essv5160166,essv5118066,essv5035273,essv5016132,essv5078361,essv5087111,essv5058910,essv5131449,essv5145393,essv5095365,essv5121343,essv5084218,essv5078804,essv5056968,essv5118484,essv5116138,essv5062417,essv5109963,essv5124501,essv5083484,essv5020320,essv5142149,essv5013270,essv5084770,essv5087177,essv5014188,essv5002567,essv5098876,essv5126545,essv5134698,essv5160108,essv5062647,essv5136670,essv5085370,essv5144335,essv5128135,essv5087448,essv5033349,essv5158870,essv5055558,essv5086282,essv5127169,essv5154286,essv5009262,essv5100382,essv5048434,essv5105263,essv5031353,essv5087065,essv5066073,essv5007236,essv5038860,essv5085617,essv5064070,essv5155307,essv5011492,essv5067067,essv5011605,essv5146008,essv5081538,essv5114105,essv5094432,essv5009696,essv5018151,essv5129287,essv5129070,essv5097744,essv5032164,essv5081760,essv5106923,essv5118492,essv5067250,essv5132825,essv5159574,essv5075217,essv5086232,essv5085813,essv5140442,essv5044684,essv5024611,essv5074408,essv5010595,essv5055971,essv5012346,essv5150512,essv5115401,essv5057628,essv5024392,essv5148477,essv5137254,essv5159308,essv5035081,essv5139071,essv5030784,essv5100992,essv5008272,essv5046331,essv5053407,essv5092064,essv5033841,essv5016709,essv5079715,essv5059150,essv5126717,essv5066110,essv5151200,essv5152067,essv5080616,essv5101766,essv5056790,essv5131323,essv5149616,essv5088135,essv5063226,essv5093092,essv5010902,essv5047879,essv5118736,essv5049861,essv5100592,essv5063015,essv5135929,essv5069822,essv5096062,essv5037795,essv5111107,essv5148313,essv5057652,essv5031057,essv5020096,essv5100577,essv5012253,essv5066281,essv5003730,essv5135112,essv5152249,essv5095420,essv5038582,essv5134808,essv5051206,essv5028455,essv5150400,essv5159425,essv5157282,essv5004303,essv5015948,essv5039212,essv5005021,essv5150202,essv5025669,essv5022720,essv5038033,essv5145953,essv5090299,essv5017961,essv5095441,essv5065853,essv5141150,essv5068222,essv5149098,essv5126037,essv5025698,essv5119810,essv5110886,essv5148200,essv5127704,essv5047687,essv5055398,essv5019857,essv5041489,essv5073123,essv5050225,essv5038801,essv5061643,essv5013044,essv5024935,essv5139489,essv5035218,essv5127442,essv5081198,essv5073859,essv5066415,essv5065160,essv5107292,essv5084290,essv5062846,essv5077010,essv5074368,essv5022131,essv5157151,essv5117379,essv5150363,essv5125260,essv5109983,essv5019273,essv5044315,essv5046254,essv5100127,essv5143832,essv5054573,essv5044581,essv5022937,essv5112286,essv5035381,essv5039261,essv5122848,essv5042320,essv5063132,essv5065267,essv5052003,essv5119071,essv5092660,essv5056606,essv5129328,essv5037824,essv5154919,essv5161133,essv5125097,essv5010360,essv5005841,essv5043514,essv5025739,essv5040307,essv5152438,essv5083377,essv5006850,essv5093145,essv5008428,essv5064406,essv5159296,essv5127517,essv5134342,essv5067865,essv5044057,essv5105367,essv5152658,essv5128051,essv5076323,essv5079364,essv5049425,essv5099978,essv5059922,essv5016811,essv5109732,essv5003930,essv5103218,essv5080801,essv5024982,essv5015327,essv5122123,essv5038459,essv5020449,essv5070991,essv5096611,essv5020667,essv5064352,essv5071253,essv5060520,essv5061795,essv5080326,essv5130515,essv5128720,essv5042999,essv5011176,essv5120495,essv5024740,essv5043838,essv5067504,essv5049109,essv5119203,essv5125823,essv5031568,essv5022918,essv5053613,essv5095976,essv5090963,essv5055843,essv5141715,essv5047475,essv5019965,essv5104878,essv5150965,essv5037626,essv5038614,essv5149045,essv5097004,essv5111354,essv5077956,essv5062575,essv5037702,essv5031469,essv5126142,essv5022386,essv5077174,essv5133388,essv5026834,essv5056696,essv5125096,essv5094435,essv5094166,essv5117425,essv5080945,essv5103892,essv5113267,essv5120639,essv5112596,essv5056576,essv5154111,essv5036425,essv5032006,essv5126102,essv5123739,essv5084321,essv5064868,essv5045965,essv5095356,essv5034643,essv5105039,essv5028005,essv5018234,essv5114591,essv5132969,essv5141216,essv5102700,essv5155876,essv5094385,essv5017749,essv5025201,essv5103316,essv5124556,essv5008205,essv5095793,essv5012790,essv5159136,essv5046079,essv5017836,essv5112449,essv5122207,essv5085212,essv5039433,essv5078267,essv5119564,essv5032856,essv5099564,essv5126959,essv5125556,essv5143605,essv5116385,essv5123611,essv5018010,essv5109394,essv5141856,essv5019737,essv5059189,essv5086015,essv5129812,essv5094449,essv5071834,essv5139588,essv5020850,essv5097677,essv5124704,essv5077345,essv5152436,essv5112769,essv5076970,essv5136714,essv5032872,essv5051054,essv5067936,essv5047877,essv5066584,essv5137132,essv5016225,essv5066425,essv5077985,essv5043319,essv5074084,essv5039542,essv5090919,essv5011930,essv5017858,essv5127658,essv5078010,essv5045846,essv5082045,essv5079213,essv5037588,essv5128719,essv5131393,essv5018257,essv5124899,essv5156161,essv5014008,essv5054153,essv5045793,essv5027825,essv5002933,essv5103746,essv5049651,essv5145012,essv5129034,essv5085128,essv5048088,essv5031791,essv5142546,essv5113800,essv5126944,essv5127445,essv5111864,essv5110998,essv5151604,essv5123360,essv5154253,essv5159803,essv5046417,essv5004327,essv5086645,essv5110704,essv5077800,essv5139339,essv5104733,essv5076178,essv5056020,essv5061632,essv5037854,essv5086335,essv5091206,essv5071760,essv5143270,essv5086865,essv5002803,essv5147285,essv5085303,essv5034259,essv5126642,essv5132868,essv5069020,essv5127289,essv5144867,essv5048992,essv5075814,essv5132128,essv5104823,essv5070894,essv5025154,essv5139824,essv5024321,essv5137361,essv5025346,essv5127898,essv5082400,essv5071619,essv5136574,essv5137773,essv5013715,essv5041928,essv5096774,essv5095729,essv5037554,essv5136352,essv5096252,essv5030152,essv5059886,essv5142395,essv5055841,essv5036612,essv5012222,essv5114648,essv5101951,essv5117526,essv5078439,essv5004748,essv5102228,essv5022056,essv5157774,essv5056335,essv5002625,essv5059390,essv5133525,essv5131037,essv5127677,essv5036154,essv5010063,essv5079931,essv5008451,essv5024910,essv5051169,essv5100478,essv5120492,essv5146315,essv5127274,essv5147033,essv5135452,essv5012330,essv5150610,essv5017451,essv5004781,essv5062366,essv5035150,essv5020565,essv5029861,essv5008353,essv5126819,essv5010170,essv5080445,essv5049713,essv5118705,essv5137779,essv5092278,essv5148376,essv5107683,essv5021123,essv5029213,essv5048935,essv5050542,essv5058382,essv5095783,essv5148392,essv5116936,essv5125539,essv5125363,essv5022234,essv5050990,essv5122503,essv5054476,essv5105310,essv5051494,essv5015254,essv5098317,essv5087124,essv5040536,essv5133817,essv5084668,essv5095930,essv5156744,essv5091932,essv5084635,essv5039747,essv5036063,essv5109565,essv5044340,essv5126653,essv5026682,essv5058440,essv5030189,essv5063769,essv5094594,essv5074184,essv5158960,essv5100057,essv5010140,essv5106249,essv5019720,essv5090870,essv5093005,essv5058674,essv5023957,essv5047837,essv5046838,essv5131485,essv5022376,essv5045389,essv5045770,essv5076241,essv5104468,essv5018797,essv5069715,essv5121656,essv5122587,essv5039557,essv5138689,essv5139434,essv5158656,essv5056111,essv5013058,essv5013088,essv5066097,essv5115568,essv5125338,essv5125504,essv5042380,essv5160312,essv5095621,essv5017900,essv5010647,essv5081938,essv5151753,essv5056508,essv5066815,essv5040737,essv5047789,essv5153300,essv5124406,essv5012099,essv5074520,essv5048125,essv5137610,essv5050713,essv5023998,essv5074379,essv5027109,essv5061614,essv5159509,essv5052554,essv5042966,essv5067968,essv5099384,essv5022141,essv5137808,essv5068429,essv5090471,essv5091936,essv5145645,essv5019740,essv5132507,essv5034391,essv5044810,essv5107946,essv5152281,essv5012929,essv5024520,essv5012974,essv5012802,essv5122530,essv5048146,essv5129848,essv5045908,essv5115246,essv5147394,essv5092102,essv5020851,essv5135049,essv5044368,essv5092313,essv5097774,essv5087070,essv5138516,essv5090568,essv5053522,essv5151196,essv5123616,essv5079789,essv5062441,essv5007789,essv5099319,essv5111925,essv5073249,essv5042353,essv5003050,essv5119219,essv5158504,essv5034385,essv5133233,essv5028553,essv5004991,essv5012674,essv5112606,essv5160571,essv5055100,essv5085488,essv5062344,essv5114208,essv5049225,essv5018033,essv5081544,essv5123762,essv5042190,essv5097053,essv5065024,essv5044965,essv5103429,essv5109776,essv5004887,essv5158112,essv5024125,essv5131321,essv5083315,essv5129626,essv5127979,essv5157553,essv5094260,essv5039110,essv5042333,essv5017530,essv5104366,essv5119886,essv5085269,essv5105933,essv5022499,essv5055381,essv5026278,essv5114974,essv5144865,essv5154832,essv5128595,essv5050379,essv5036653,essv5136336,essv5107342,essv5020900,essv5004279,essv5037112,essv5132885,essv5128082,essv5151248,essv5119634,essv5150376,essv5077481,essv5021288,essv5034098,essv5013693,essv5060419,essv5050495,essv5024619,essv5159097,essv5135423,essv5134159,essv5111357,essv5037746,essv5147846,essv5095588,essv5012650,essv5061491,essv5101644,essv5026344,essv5143775,essv5018616,essv5106975,essv5047684,essv5023147,essv5131725,essv5118184,essv5110909,essv5125199,essv5099450,essv5020595,essv5089870,essv5080752,essv5002672,essv5033696,essv5093766,essv5141595,essv5023924,essv5130215,essv5156812,essv5082745,essv5049534,essv5018272,essv5121368,essv5105149,essv5056512,essv5119314,essv5041458,essv5038351,essv5113166,essv5092605,essv5143968,essv5024264,essv5097965,essv5028880,essv5010591,essv5070836,essv5081205,essv5123227,essv5149882,essv5159853,essv5123737,essv5038098,essv5118075,essv5049074,essv5029505,essv5118380,essv5014571,essv5124603,essv5095880,essv5150273,essv5089552,essv5038152,essv5103701,essv5152339,essv5072400,essv5128541,essv5104893,essv5112358,essv5087223,essv5152256,essv5043007,essv5028756 M 1184 0 945 EYS NA06984,NA06985,NA06986,NA06989,NA06993,NA06994,NA06995,NA06997,NA07014,NA07022,NA07037,NA07045,NA07051,NA07056,NA07345,NA07347,NA07348,NA10830,NA10831,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12146,NA12154,NA12155,NA12156,NA12234,NA12264,NA12272,NA12275,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA12891,NA17965,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17976,NA17980,NA17981,NA17982,NA17986,NA17987,NA17988,NA17990,NA17993,NA17995,NA17998,NA17999,NA18101,NA18105,NA18106,NA18108,NA18109,NA18112,NA18118,NA18120,NA18124,NA18128,NA18129,NA18131,NA18136,NA18138,NA18139,NA18140,NA18143,NA18146,NA18147,NA18151,NA18152,NA18154,NA18155,NA18157,NA18159,NA18160,NA18162,NA18166,NA18484,NA18485,NA18486,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18542,NA18545,NA18550,NA18558,NA18559,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18611,NA18613,NA18615,NA18616,NA18621,NA18622,NA18623,NA18626,NA18627,NA18628,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18639,NA18641,NA18645,NA18670,NA18674,NA18682,NA18685,NA18689,NA18704,NA18740,NA18747,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18873,NA18874,NA18875,NA18909,NA18910,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18953,NA18954,NA18955,NA18956,NA18959,NA18960,NA18962,NA18963,NA18964,NA18966,NA18967,NA18970,NA18971,NA18972,NA18974,NA18975,NA18976,NA18977,NA18979,NA18980,NA18981,NA18990,NA18991,NA18994,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19028,NA19031,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19083,NA19085,NA19086,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19137,NA19138,NA19139,NA19140,NA19141,NA19143,NA19144,NA19146,NA19147,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19190,NA19191,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19258,NA19307,NA19308,NA19309,NA19310,NA19314,NA19316,NA19317,NA19318,NA19319,NA19321,NA19327,NA19328,NA19332,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19373,NA19374,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19431,NA19434,NA19436,NA19437,NA19438,NA19439,NA19444,NA19445,NA19446,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19467,NA19468,NA19471,NA19472,NA19473,NA19474,NA19625,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19663,NA19665,NA19670,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19682,NA19683,NA19684,NA19700,NA19701,NA19702,NA19704,NA19705,NA19711,NA19712,NA19718,NA19719,NA19720,NA19721,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19790,NA19794,NA19795,NA19796,NA19818,NA19828,NA19834,NA19835,NA19900,NA19901,NA19902,NA19908,NA19909,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20334,NA20335,NA20336,NA20337,NA20341,NA20343,NA20344,NA20348,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20799,NA20801,NA20802,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20811,NA20812,NA20813,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20875,NA20876,NA20877,NA20879,NA20881,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20901,NA20903,NA20904,NA20906,NA20907,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21098,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21108,NA21109,NA21111,NA21113,NA21116,NA21117,NA21125,NA21137,NA21142,NA21144,NA21295,NA21297,NA21300,NA21301,NA21307,NA21308,NA21309,NA21312,NA21316,NA21318,NA21320,NA21333,NA21339,NA21344,NA21353,NA21355,NA21356,NA21357,NA21360,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21415,NA21417,NA21418,NA21420,NA21423,NA21424,NA21425,NA21434,NA21435,NA21438,NA21439,NA21440,NA21441,NA21442,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21529,NA21573,NA21576,NA21577,NA21578,NA21580,NA21583,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21716,NA21717,NA21718,NA21722,NA21723,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 esv2466331 6 65404280 65407524 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217932 S 1 0 1 EYS NA18507 esv272011 6 65405546 65405878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510575,essv2493289,essv2508985,essv2498477,essv2513304,essv2510807,essv2502074 M 157 7 0 Samples from several populations that are part of the HapMap project. EYS NA18501,NA18504,NA18522,NA18858,NA18907,NA19116,NA19257 esv1591369 6 65453474 65453474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802477 S 2 1 0 EYS HuRef nsv5328 6 65474616 65519877 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8256 S 9 0 1 EYS NA12156 esv33692 6 65475826 65476004 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100023 S 51 0 1 EYS 22086 nsv886006 6 65565810 65706495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546134 S 6533 0 1 EYS MS17114 nsv470822 6 65575344 65656019 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544498 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP00890 nsv462976 6 65586298 65642132 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539020 S 1557 0 1 EYS 1780862540_A nsv462977 6 65613076 65738304 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539021 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP01294 nsv886007 6 65679184 65733277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574722 S 6533 0 1 EYS IS33616 nsv886008 6 65707419 65779246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600981 S 6533 0 1 EYS IS41955 esv268769 6 65740923 65741287 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496813,essv2501053,essv2498718,essv2497476,essv2510478 M 157 5 0 Samples from several populations that are part of the HapMap project. EYS NA18498,NA18856,NA19138,NA19147,NA19172 nsv886009 6 65755221 65975530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557056 S 6533 0 1 EYS MS22351 esv5426 6 65767698 65772575 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27867 S 1 0 1 Single Asian sample YH EYS YH nsv499480 6 65767726 65772439 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585986 S 9 0 1 EYS esv23142 6 65767740 65771776 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15718 S 451 0 5 EYS NA11931,NA11995,NA12044,NA12749,NA12776 nsv442983 6 65768120 65770513 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EYS dgv1048n67 6 65768157 65771732 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823711,nsv823710 M 31 0 14 EYS AK10,AK16,AK18,AK2,AK8,NA18526,NA18537,NA18542,NA18552,NA18947,NA18951,NA18972,NA18973,NA18999 nsv514364 6 65768356 65771592 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627815 S 1414 0 1 EYS nsv819529 6 65768574 65775127 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419783 S 2 0 1 EYS AK1 nsv820016 6 65824676 65826556 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419352 S 2 0 1 EYS AK1 nsv823712 6 65824898 65825411 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432904 S 31 0 1 EYS NA18972 esv24902 6 65879972 65880679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18389 S 451 0 3 EYS NA18505,NA18523,NA18858 nsv515733 6 65881300 65975530 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655371,nssv664619 M 2026 0 2 EYS nsv823713 6 65903156 65904404 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432093 S 31 1 0 EYS AK20 esv22660 6 65904876 65935570 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9954 S 451 0 1 EYS NA19225 nsv886010 6 65930298 66046013 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558186 S 6533 0 1 EYS MS23152 dgv6872n71 6 65930298 66411530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886011,nsv886012 M 6533 0 2 EYS MS17114,SP81488 nsv348880 6 65958943 65968428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367458 M 24 EYS esv25071 6 65966622 65967401 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17252 S 451 0 1 EYS NA18858 nsv886013 6 65975530 66107518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554824 S 6533 0 1 EYS MS21020 nsv521670 6 65978654 66065824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698288 S 2026 0 1 EYS nsv516417 6 66009247 66140501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668234,nssv699224,nssv670328 M 2026 0 3 EYS nsv470823 6 66025960 66109395 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544500 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP00875 dgv6873n71 6 66053576 66117894 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886015,nsv886017,nsv886014 M 6533 0 3 EYS IS35083,IS37110,SP57418 dgv6874n71 6 66059110 66160316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886019,nsv886018,nsv886016 M 6533 0 4 EYS IS31041,IS35675,MS19630,MS21868 esv1215147 6 66084440 66084500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801629 S 2 0 1 EYS HuRef dgv6875n71 6 66087371 66160316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886023,nsv886020,nsv886022 M 6533 0 6 EYS IS30143,IS34797,IS35018,IS35911,IS41803,MS25617 dgv6876n71 6 66087371 66258085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886021,nsv886024,nsv886025 M 6533 0 3 EYS IS30539,IS31259,IS35100 nsv462980 6 66096322 66140501 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539022 S 1557 0 1 EYS 1787431198_A nsv818421 6 66107518 66109396 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417430 S 112 1 0 EYS NA18952 nsv520449 6 66129263 66148072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697428 S 2026 0 1 EYS esv24529 6 66131722 66132203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17058 S 451 0 1 EYS NA18858 nsv462983 6 66148072 66182444 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539023 S 1557 0 1 EYS 1780862309_A nsv886026 6 66148072 66187591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517691 S 6533 1 0 EYS SP57348 dgv6877n71 6 66163040 66289413 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886027,nsv886028 M 6533 2 0 EYS IS35380,IS37990 dgv756n27 6 66172375 66289413 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462985,nsv462986 M 1557 0 2 EYS 1780862042_A,HGDP00146 nsv886029 6 66190002 66389826 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556598 S 6533 0 1 EYS MS22104 nsv886030 6 66203540 66294030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552842 S 6533 0 1 EYS MS19634 nsv528039 6 66213812 66243828 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704571 S 2026 1 0 EYS nsv818423 6 66213812 66243828 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416446 S 112 1 0 EYS NA18516 esv267938 6 66220661 66220865 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510189,essv2500818,essv2499336,essv2500227,essv2499413,essv2501662,essv2505506,essv2513215,essv2508504,essv2502562,essv2503771,essv2508810,essv2502779,essv2504195,essv2496313,essv2494747,essv2494874,essv2507812,essv2511294,essv2500653,essv2512753,essv2499286,essv2505405,essv2495962,essv2495833,essv2503931,essv2504337 M 157 27 0 Samples from several populations that are part of the HapMap project. EYS NA07000,NA07037,NA07347,NA10851,NA11830,NA11994,NA12006,NA12044,NA12144,NA12154,NA12249,NA12717,NA12750,NA12761,NA12878,NA12892,NA18505,NA18511,NA18519,NA18520,NA18564,NA18570,NA18571,NA18577,NA18605,NA18952,NA18961 esv273606 6 66220667 66221000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581639,essv2582756,essv2582841,essv2584057,essv2584448,essv2583712 M 7 6 0 Samples from several populations that are part of the HapMap project. EYS NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv886031 6 66233799 66294030 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549447 S 6533 1 0 EYS MS18240 nsv470824 6 66270729 66310805 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544501 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP01199 nsv524573 6 66307678 66310805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700529 S 2026 0 1 EYS esv1002545 6 66315457 66318846 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564810 S 3 0 1 EYS HuRef esv2576083 6 66316209 66319550 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174210 S 1 0 1 EYS NA18507 esv2214118 6 66316569 66318945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952464 S 1 0 1 EYS NA18507 nsv511892 6 66316608 66319616 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624426 S 1 0 1 EYS 1 esv3510 6 66316730 66318820 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25951 S 1 0 1 Single Asian sample YH EYS YH dgv223n6 6 66316749 66318754 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv350066,nsv348895 M 24 EYS esv1005863 6 66316756 66318749 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570560 S 3 0 1 EYS HuRef esv1748560 6 66316760 66318754 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258446 S 2 0 1 EYS HuRef esv6318 6 66316763 66318741 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28759 S 1 0 1 EYS SJK nsv470825 6 66326120 66383666 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544503,nssv544502 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP00544,HGDP00622 nsv511893 6 66331500 66334806 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624427 S 1 0 1 EYS 1 esv1637717 6 66331576 66331900 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747458 S 2 0 1 EYS HuRef nsv886032 6 66335296 66679067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591256 S 6533 0 1 EYS,MCART3P IS38663 nsv516274 6 66366036 66383666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693299,nssv659996,nssv684373,nssv697487,nssv656021,nssv666859,nssv680379,nssv686189,nssv661236,nssv652708,nssv660804,nssv690485,nssv660694 M 2026 0 13 EYS dgv757n27 6 66366409 66397153 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462987,nsv462988 M 1557 0 2 EYS NINDS_17,NINDS_46 nsv462989 6 66402563 66431525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539029 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYS HGDP01416 dgv1959e1 6 66411109 66510269 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv739,esv1073 M 271 0 0 EYS NA19003 nsv5329 6 66430939 66493678 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3444,nssv11128,nssv2596 M 9 0 3 EYS NA12878,NA15510,NA18555 nsv436998 6 66453404 66461649 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466879 S 60 0 1 Samples from several populations that are part of the HapMap project. EYS NA07048 nsv508411 6 66453560 66469548 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619975 S 4 0 1 EYS NA15510 nsv7910 6 66454046 66462667 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14868,nssv14486,nssv14883,nssv15016,nssv16883,nssv14244,nssv16497,nssv14032,nssv14505 M 31 0 9 Samples from several populations that are part of the HapMap project. EYS NA07048,NA18537,NA18552,NA18564,NA18942,NA18972,NA18975,NA19007,NA19132 esv1003481 6 66455956 66461473 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587083 S 3 1 0 EYS HuRef dgv1049n67 6 66455956 66461598 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823717,nsv823716,nsv823715,nsv823714 M 31 0 18 EYS AK10,AK12,AK18,AK4,AK8,NA18526,NA18537,NA18552,NA18564,NA18582,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997 esv2421564 6 66456203 66460573 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5151537,essv5085598,essv5126077,essv5029141,essv5123007,essv5006491,essv5008984,essv5138075,essv5007692,essv5038600,essv5069402,essv5143082,essv5159860,essv5009491,essv5104494,essv5112947,essv5046448,essv5091137,essv5090301,essv5075772,essv5074850,essv5109132,essv5138755,essv5094150,essv5159823,essv5109189,essv5030461,essv5037254,essv5105354,essv5035349,essv5078897,essv5118709,essv5082143,essv5153539,essv5137876,essv5013375,essv5082360,essv5023428,essv5146074,essv5105609,essv5119929,essv5037835,essv5038979,essv5047893,essv5161120,essv5120766,essv5147788,essv5075112,essv5099185,essv5129226,essv5110821,essv5111467,essv5136857,essv5141820,essv5146919,essv5126506,essv5097517,essv5101931,essv5006099,essv5094875,essv5035555,essv5148808,essv5081120,essv5147932,essv5138304,essv5091708,essv5094218,essv5083132,essv5005427,essv5027357,essv5130131,essv5062346,essv5122128,essv5096797,essv5005060,essv5009948,essv5039133,essv5067791,essv5102491,essv5131481,essv5127421,essv5125683,essv5022618,essv5043415,essv5087994,essv5156628,essv5044090,essv5145691,essv5058664,essv5097098,essv5062000,essv5012134,essv5014692,essv5159259,essv5059294,essv5024433,essv5016822,essv5023763,essv5002276,essv5100393,essv5080759,essv5052539,essv5041219,essv5103098,essv5135080,essv5032640,essv5108104,essv5068200,essv5134774,essv5076388,essv5091516,essv5098359,essv5089048,essv5053736,essv5039631,essv5130985,essv5020637,essv5145985,essv5018683,essv5094834,essv5153429,essv5095951,essv5088732,essv5031006,essv5159684,essv5039782,essv5146428,essv5024292,essv5095575,essv5024857,essv5135139,essv5128950,essv5128071,essv5002947,essv5041618,essv5138710,essv5120397,essv5027877,essv5023927,essv5049901,essv5026153,essv5056736,essv5100362,essv5018473,essv5157181,essv5024698,essv5087132,essv5144327,essv5138308,essv5127431,essv5020117,essv5103952,essv5124121,essv5138345,essv5115581,essv5031594,essv5161035,essv5053387,essv5135910,essv5156405,essv5108849,essv5080343,essv5009742,essv5007738,essv5127139,essv5074976,essv5005361,essv5011504,essv5125527,essv5016875,essv5133447,essv5132742,essv5065087,essv5054496,essv5113113,essv5090775,essv5081323,essv5150880,essv5022235,essv5150760,essv5025263,essv5004504,essv5106480,essv5103782,essv5066224,essv5118450,essv5076272,essv5104865,essv5056953,essv5044509,essv5133873,essv5156393,essv5108587,essv5032970,essv5011452,essv5149729,essv5034346,essv5139000,essv5065272,essv5007936,essv5138307,essv5125778,essv5116007,essv5134667,essv5123058,essv5145974,essv5002756,essv5075256,essv5155852,essv5004623,essv5066447,essv5111681,essv5118079,essv5089469,essv5092828,essv5103495,essv5068207,essv5149741,essv5009928 M 1184 0 219 EYS NA06993,NA10852,NA11882,NA11917,NA12045,NA12335,NA12341,NA12344,NA12347,NA12753,NA12763,NA12842,NA12878,NA12891,NA17962,NA17966,NA17968,NA17970,NA17975,NA17979,NA17980,NA17981,NA17983,NA17989,NA17990,NA17993,NA17997,NA17999,NA18106,NA18107,NA18108,NA18109,NA18112,NA18120,NA18124,NA18127,NA18134,NA18139,NA18140,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18155,NA18158,NA18160,NA18518,NA18519,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18543,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18564,NA18571,NA18573,NA18579,NA18582,NA18596,NA18599,NA18602,NA18603,NA18608,NA18609,NA18610,NA18611,NA18613,NA18617,NA18622,NA18624,NA18626,NA18628,NA18630,NA18631,NA18633,NA18634,NA18636,NA18637,NA18639,NA18640,NA18641,NA18670,NA18682,NA18685,NA18694,NA18704,NA18740,NA18747,NA18748,NA18859,NA18939,NA18942,NA18944,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18962,NA18965,NA18966,NA18968,NA18969,NA18972,NA18975,NA18976,NA18978,NA18987,NA18990,NA18995,NA18997,NA18998,NA19001,NA19007,NA19009,NA19010,NA19027,NA19046,NA19054,NA19056,NA19059,NA19060,NA19063,NA19064,NA19067,NA19068,NA19072,NA19075,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19088,NA19131,NA19132,NA19375,NA19385,NA19455,NA19657,NA19664,NA19665,NA19681,NA19683,NA19720,NA19721,NA19726,NA19727,NA19756,NA19757,NA19759,NA19760,NA19777,NA19783,NA19784,NA20279,NA20282,NA20284,NA20301,NA20302,NA20337,NA20519,NA20530,NA20799,NA20802,NA20859,NA20871,NA20872,NA20881,NA20887,NA20888,NA20891,NA20903,NA20907,NA21088,NA21099,NA21115,NA21119,NA21143,NA21144,NA21300,NA21364,NA21371,NA21418,NA21424,NA21441,NA21442,NA21475,NA21489,NA21490,NA21491,NA21509,NA21512,NA21513,NA21514,NA21521,NA21596,NA21599,NA21601,NA21634 nsv514365 6 66456248 66460560 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627816 S 1414 0 1 EYS nsv442984 6 66456258 66460573 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EYS esv23889 6 66459437 66461414 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12828 S 451 0 1 EYS NA15510 dgv1960e1 6 66460447 66510269 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6557,essv18026 M 271 0 0 EYS NA12878,NA18624 nsv886033 6 66477399 66562861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564133 S 6533 0 1 MCART3P IS30171 nsv886034 6 66507460 66679067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529398 S 6533 0 1 MCART3P SP81533 dgv6878n71 6 66539368 66654970 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886035,nsv886036 M 6533 2 0 MCART3P IS32523,MS17231 nsv462990 6 66547777 66655659 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539030 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MCART3P HGDP00818 dgv6879n71 6 66584898 67111682 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886038,nsv886037 M 6533 3 0 "" MS16211,MS21100,MS23301 nsv5330 6 66603156 66629333 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2727 S 9 1 0 "" NA18555 dgv6880n71 6 66610803 66700749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886039,nsv886040 M 6533 0 2 "" IS35572,IS41862 nsv509137 6 66618741 66618741 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620853 S 4 1 0 "" NA15510 esv1113264 6 66627153 66627153 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689499 S 2 1 0 "" HuRef nsv511894 6 66650764 66652843 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624428 S 1 0 1 "" 1 esv2490894 6 66651360 66653254 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238340 S 1 0 1 "" NA18507 esv1921428 6 66651589 66652762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583022 S 1 0 1 "" NA18507 esv3462 6 66651729 66652600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25903 S 1 0 1 Single Asian sample YH "" YH esv1001712 6 66651769 66652562 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580748 S 3 0 1 "" HuRef esv8893 6 66651777 66652552 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31334 S 1 0 1 "" SJK dgv6881n71 6 66659559 66745211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886042,nsv886041,nsv886043 M 6533 0 4 "" MS10737,MS17114,MS18978,MS21252 nsv462991 6 66679067 66712818 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539031 S 1557 0 1 "" 1780854341_A nsv818424 6 66680970 66685400 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417535 S 112 1 0 "" NA18968 nsv462992 6 66685400 66878213 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539032 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00571 nsv462993 6 66692925 66776318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539033 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00562 nsv470826 6 66700749 66878213 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544504,nssv544505 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00562,HGDP00571 nsv886044 6 66779690 67034051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566159 S 6533 0 1 "" IS30597 esv1543109 6 66784322 66784572 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191890 S 2 0 1 "" HuRef nsv886045 6 66803564 66855410 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514541 S 6533 1 0 "" SP56012 nsv830676 6 66807995 66989634 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445427 S 95 0 1 "" nsv521413 6 66833289 66837911 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698022 S 2026 1 0 "" esv271263 6 66872819 66873150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565832,essv2540855,essv2526233,essv2542410,essv2536652,essv2523064,essv2544176,essv2570801,essv2523187,essv2577299,essv2570458,essv2548391,essv2521517,essv2550450,essv2535055,essv2554315,essv2544279,essv2520407,essv2547298,essv2558386,essv2564615,essv2577653,essv2553759,essv2520037,essv2564278,essv2555069,essv2530759,essv2537471,essv2528580,essv2547030,essv2520731,essv2557443,essv2557173,essv2552450,essv2532233,essv2569543,essv2578848,essv2550047,essv2536995,essv2569635,essv2527372,essv2561560,essv2544611,essv2563027,essv2552910,essv2541320,essv2542921,essv2540562,essv2564853,essv2534712,essv2561003,essv2549511,essv2519730,essv2559785,essv2522020,essv2566208,essv2531180,essv2532596,essv2528918,essv2569950,essv2563825,essv2553503,essv2535643,essv2572334,essv2559198,essv2566782,essv2569185,essv2543780,essv2562412,essv2533817,essv2573046,essv2555583,essv2567010,essv2529995,essv2557620,essv2534408,essv2522518,essv2531336,essv2573353,essv2543061,essv2576989,essv2529551,essv2575726,essv2575196,essv2538505,essv2526572,essv2560692,essv2524191,essv2574849,essv2530269,essv2568460,essv2545114,essv2560188,essv2549870,essv2571380,essv2545885,essv2574131,essv2551534,essv2536047,essv2538035,essv2548789,essv2532998,essv2554672,essv2547984,essv2525059,essv2563285,essv2558051 M 157 107 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12004,NA12043,NA12044,NA12045,NA12144,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12815,NA12828,NA12872,NA12873,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18542,NA18545,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18870,NA18909,NA18916,NA18942,NA18945,NA18947,NA18949,NA18953,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272370 6 66872820 66873149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582251,essv2582658,essv2583239,essv2583990,essv2584826,essv2583746 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1411048 6 66872845 66872845 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689633 S 2 1 0 "" HuRef esv2422329 6 66905974 66973527 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161278 S 181 0 1 "" ND01684 dgv6882n71 6 66942379 67034051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886046,nsv886047,nsv886048 M 6533 0 6 "" IS30532,IS31118,IS31205,IS35236,IS35742,IS39718 dgv6883n71 6 66942379 67111682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886050,nsv886049,nsv886051 M 6533 0 3 "" IS30593,IS32615,IS36656 nsv830677 6 66945485 67107865 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445428 S 95 0 1 "" esv6393 6 66951972 66952067 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28834 S 1 1 0 "" SJK dgv1961e1 6 66961128 67117117 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1417,essv24186 M 271 0 0 "" NA07056 nsv7911 6 66966949 66969000 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16002 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv886052 6 66985843 67014590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502991 S 6533 0 1 "" SP51473 nsv510035 6 67000384 67006384 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621285,nssv618237 M 4 0 2 "" CHM,NA15510 nsv462994 6 67042380 67105019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539034 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00526 dgv1962e1 6 67043118 67117117 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18032,essv22290,essv21949,essv22797,essv19369 M 271 0 0 "" NA07000,NA07019,NA12753,NA12762,NA12878 dgv6884n71 6 67044129 67111682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886054,nsv886053 M 6533 0 2 "" IS30198,IS38137 dgv758n27 6 67058287 67105019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv462998,nsv463000,nsv463002,nsv463001 M 1557 0 4 "" 1780862516_A,NINDS_183,NINDS_217,NINDS_227 dgv6885n71 6 67061239 67116910 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886058,nsv886057,nsv886056,nsv886055 M 6533 0 208 "" IS30085,IS30109,IS30134,IS30166,IS30181,IS30193,IS30197,IS30213,IS30224,IS30300,IS30330,IS30348,IS30369,IS30411,IS30412,IS30522,IS30539,IS30542,IS30562,IS30567,IS30837,IS30923,IS30967,IS30993,IS31011,IS31067,IS31194,IS31227,IS31294,IS31300,IS31419,IS31649,IS31729,IS31799,IS31909,IS32306,IS32661,IS32714,IS32744,IS32766,IS32777,IS32871,IS33030,IS33115,IS33123,IS33162,IS33361,IS33494,IS33551,IS33669,IS33726,IS33732,IS33772,IS33788,IS33871,IS33888,IS33890,IS34066,IS34184,IS34304,IS34378,IS34407,IS34432,IS34477,IS34484,IS34530,IS34622,IS34700,IS34745,IS34747,IS34760,IS34762,IS34821,IS34931,IS34981,IS35028,IS35072,IS35129,IS35167,IS35260,IS35270,IS35349,IS35408,IS35447,IS35506,IS35528,IS35573,IS35726,IS35763,IS35771,IS35880,IS35993,IS36258,IS36287,IS36383,IS36400,IS36423,IS36442,IS36458,IS36521,IS36540,IS36612,IS36963,IS37503,IS37612,IS37702,IS37775,IS37817,IS37860,IS37866,IS37968,IS37985,IS38092,IS38153,IS38216,IS38239,IS38266,IS38271,IS38335,IS38388,IS38397,IS38429,IS38457,IS38465,IS38479,IS38513,IS38594,IS38633,IS38634,IS38659,IS38736,IS39009,IS39057,IS39078,IS39125,IS39272,IS39322,IS39331,IS39333,IS39363,IS39372,IS39417,IS39426,IS39490,IS39626,IS39666,IS39916,IS39923,IS39931,IS40046,IS40057,IS40072,IS40130,IS40186,IS40237,IS40302,IS40329,IS40444,IS40511,IS40521,IS40556,IS40606,IS40635,IS40676,IS40708,IS40775,IS40831,IS40838,IS40898,IS40930,IS41008,IS41273,IS41433,IS41483,IS41565,IS41648,IS41657,IS41780,IS41830,IS41847,IS41858,IS41869,IS41881,IS41883,IS41895,IS41918,IS41934,IS41979,MS11552,MS13088,MS14679,MS15502,MS15514,MS16259,MS16544,MS17148,MS19645,MS19721,MS20632,MS21118,MS21225,MS21465,MS21928,MS23257,MS23685,MS24732,MS25181,MS25439 nsv515685 6 67065007 67111682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683513,nssv693269,nssv668999,nssv683569,nssv655617,nssv666503,nssv691427,nssv656749,nssv658056,nssv691602,nssv679669,nssv671080,nssv663418,nssv667968,nssv661993,nssv663682,nssv677627,nssv654140,nssv693522,nssv671096,nssv678229,nssv691730,nssv668392,nssv651716,nssv669258,nssv659042,nssv683843,nssv680130,nssv682118,nssv681266,nssv671452,nssv671199,nssv690373,nssv658983,nssv672955,nssv675859,nssv664695,nssv671332,nssv656763,nssv669074,nssv692765,nssv661968,nssv664324,nssv689804,nssv665300,nssv664387,nssv679386,nssv687991,nssv661661,nssv653471,nssv687372,nssv670743,nssv689435,nssv689714,nssv686278,nssv658793,nssv671836,nssv657705,nssv682245,nssv691172,nssv658354,nssv684340,nssv674663,nssv681048,nssv691338,nssv681656,nssv655248,nssv662437,nssv661257,nssv651986,nssv677663,nssv678335,nssv676524,nssv679364,nssv666738,nssv685171,nssv678604,nssv689344,nssv672162,nssv685543,nssv673072,nssv657553,nssv679344,nssv688430,nssv680804,nssv653584,nssv688192,nssv679240,nssv658614,nssv661885,nssv666265,nssv656926,nssv680472,nssv688645,nssv689888,nssv683527,nssv653668,nssv686471,nssv675299,nssv685003,nssv681586,nssv665311,nssv686009,nssv665736,nssv661428,nssv667983,nssv659456,nssv669126,nssv653167,nssv687708,nssv693793,nssv692977,nssv681944,nssv682645,nssv661053,nssv662155,nssv672557,nssv667806,nssv672146,nssv664265,nssv657924,nssv692223,nssv689366,nssv672601,nssv679528,nssv653912,nssv678373,nssv652030,nssv683230,nssv681672,nssv669023,nssv662498,nssv676273,nssv654875,nssv659621,nssv654531,nssv667737,nssv658920,nssv683110,nssv670922,nssv663061,nssv663158,nssv688247,nssv678380,nssv682939,nssv681932,nssv678994,nssv659510,nssv680984,nssv668441,nssv665059,nssv659931,nssv653125,nssv675912,nssv679785,nssv662002,nssv662993,nssv654937,nssv670986,nssv658860,nssv683389,nssv683290,nssv687677,nssv656063,nssv664582,nssv688816,nssv689188,nssv689156,nssv668647,nssv682441,nssv657389,nssv668256,nssv683475,nssv664398,nssv654508,nssv684493,nssv677330,nssv665276,nssv690690,nssv659674,nssv661237,nssv663990,nssv681436,nssv670424,nssv688977,nssv688091,nssv658808,nssv667509,nssv679986,nssv655221,nssv675392,nssv685258,nssv677756,nssv670826,nssv668742,nssv690664,nssv656642,nssv672231,nssv652542,nssv667716,nssv683829,nssv682776,nssv662841,nssv665084,nssv653247,nssv661182,nssv686688,nssv682786,nssv691359,nssv656312,nssv679701,nssv685929,nssv670810,nssv683729,nssv684843,nssv684202,nssv691085,nssv673642 M 2026 0 218 "" esv33900 6 67065247 67105664 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101500,essv98725,essv97535,essv100906,essv98297,essv96929,essv97427,essv93724,essv97138,essv100100,essv99333,essv98510 M 51 7 5 "" 21603,21606,21616,21656,21772,21817,21879,21972,22075,22086,22275,22352 esv23974 6 67065482 67105587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18572,esv13629,esv16380 M 451 0 8 "" NA11993,NA12004,NA12287,NA12776,NA12878,NA15510,NA18858,NA18909 esv2421367 6 67065532 67105350 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138093,essv5151788,essv5126815,essv5147262,essv5048373,essv5155471,essv5025060,essv5035431,essv5110359,essv5107890,essv5008672,essv5142067,essv5135591,essv5142049,essv5146339,essv5106845,essv5018750,essv5063313,essv5112052,essv5065164,essv5157197,essv5031405,essv5031617,essv5158480,essv5029935,essv5045545,essv5139415,essv5120636,essv5138490,essv5023271,essv5124599,essv5053875,essv5038473,essv5120324,essv5113083,essv5146897,essv5058949,essv5009679,essv5155568,essv5089127,essv5129594,essv5108600,essv5108599,essv5140078,essv5106290,essv5043092,essv5075385,essv5118082,essv5019365,essv5098610,essv5153267,essv5007686,essv5054651,essv5128076,essv5034980,essv5074557,essv5098861,essv5058394 M 1184 0 58 "" NA07000,NA07056,NA07347,NA07349,NA11917,NA11918,NA12342,NA12375,NA12376,NA12489,NA12753,NA12762,NA12832,NA12842,NA12878,NA12892,NA19649,NA19650,NA19660,NA19662,NA19663,NA19665,NA19681,NA19685,NA19719,NA19726,NA19755,NA19774,NA19794,NA19900,NA20504,NA20510,NA20517,NA20520,NA20524,NA20525,NA20538,NA20540,NA20753,NA20757,NA20760,NA20769,NA20771,NA20796,NA20801,NA20805,NA20807,NA20810,NA20870,NA20882,NA20890,NA20895,NA20898,NA20907,NA21097,NA21100,NA21104,NA21436 essv25066 6 67065532 67106320 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12892 nsv433234 6 67074215 67105019 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463115 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 dgv759n27 6 67075448 67093085 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463109,nsv463003 M 1557 0 2 "" 1780862311_A,NINDS_88 dgv760n27 6 67075448 67105019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463036,nsv463063,nsv463010,nsv463064,nsv463040,nsv463081,nsv463018,nsv463113,nsv463067,nsv463035,nsv463112,nsv463094,nsv463093,nsv463089,nsv463053,nsv463087,nsv463069,nsv463100,nsv463014,nsv463058,nsv463083,nsv463052,nsv463121,nsv463008,nsv463068,nsv463011,nsv463119,nsv463031,nsv463019,nsv463088,nsv463072,nsv463032,nsv463080,nsv463090,nsv463076,nsv463027,nsv463034,nsv463098,nsv463042,nsv463030,nsv463114,nsv463015,nsv463082,nsv463038,nsv463122,nsv463066,nsv463041,nsv463054,nsv463118,nsv463077,nsv463085,nsv463033,nsv463074,nsv463120,nsv463057,nsv463071,nsv463013,nsv463004,nsv463070,nsv463116,nsv463075,nsv463091,nsv463045,nsv463005,nsv463037,nsv463048,nsv463051,nsv463096,nsv463097,nsv463055,nsv463059,nsv463044,nsv463092,nsv463043,nsv463046,nsv463049,nsv463007,nsv463078,nsv463065,nsv463012,nsv463009,nsv463111,nsv463086,nsv463016,nsv463060,nsv463079,nsv463047,nsv463115,nsv463110,nsv463123,nsv463099,nsv463029,nsv463056,nsv463020 M 1557 0 94 "" 1780846029_A,1780854016_A,1780854039_A,1780854065_A,1780854117_A,1780854127_A,1780854205_A,1780854384_A,1780854480_A,1780854568_A,1780854585_A,1780862019_A,1780862021_A,1780862127_A,1780862165_A,1780862175_A,1780862252_A,1780862261_A,1780862276_A,1780862294_A,1780862304_A,1780862380_A,1780862381_A,1780862402_A,1780862433_A,1780862456_A,1780862518_A,1782681023_A,1782681110_A,1782681208_A,1782681274_A,1782681277_A,1782681313_A,1798860108_A,1798860166_A,1798860277_A,1798860372_A,1798860592_A,HGDP00021,HGDP00033,HGDP00037,HGDP00045,HGDP00049,HGDP00080,HGDP00092,HGDP00145,HGDP00216,HGDP00237,HGDP00323,HGDP00512,HGDP00517,HGDP00522,HGDP00557,HGDP00559,HGDP00637,HGDP00644,HGDP00654,HGDP00675,HGDP00676,HGDP00685,HGDP00688,HGDP00701,HGDP00727,HGDP00862,HGDP01064,HGDP01065,HGDP01071,HGDP01074,HGDP01167,HGDP01173,HGDP01275,HGDP01278,HGDP01360,NINDS_100,NINDS_109,NINDS_149,NINDS_202,NINDS_205,NINDS_207,NINDS_225,NINDS_235,NINDS_243,NINDS_251,NINDS_29,NINDS_34,NINDS_37,NINDS_5,NINDS_67,NINDS_74,NINDS_79,NINDS_80,NINDS_86,NINDS_89,NINDS_90 nsv818425 6 67075448 67105019 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416160,nssv1417030,nssv1416159 M 112 0 3 "" NA07000,NA12878,NA12892 dgv6886n71 6 67075448 67111682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886059,nsv886060 M 6533 0 4 "" IS31832,IS32633,IS32925,IS33592 nsv470828 6 67075448 67111682 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544513,nssv544524,nssv544527,nssv544526,nssv544533,nssv544514,nssv544507,nssv544508,nssv544522,nssv544520,nssv544529,nssv544512,nssv544509,nssv544515,nssv544518,nssv544516,nssv544531,nssv544525,nssv544519,nssv544528,nssv544534,nssv544506,nssv544511,nssv544517,nssv544523,nssv544530 M 443 0 26 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00054,HGDP00064,HGDP00323,HGDP00557,HGDP00559,HGDP00560,HGDP00583,HGDP00584,HGDP00600,HGDP00654,HGDP00675,HGDP00676,HGDP00679,HGDP00688,HGDP00690,HGDP00693,HGDP00694,HGDP00699,HGDP00701,HGDP00867,HGDP01275,HGDP01278,HGDP01359,HGDP01365,HGDP01388,HGDP01404 dgv761n27 6 67075448 67116910 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463102,nsv463101,nsv463103 M 1557 0 3 "" 1780854130_A,1780854467_A,1780862437_A dgv762n27 6 67076651 67086432 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463105,nsv463107,nsv463108 M 1557 0 3 "" 1780862530_A,1798860114_A,HGDP00279 dgv763n27 6 67083141 67105019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463130,nsv463132,nsv463126,nsv463124,nsv463131,nsv463129,nsv463127,nsv463125 M 1557 0 8 "" 1780854288_A,1780862379_A,1780862391_A,HGDP00583,HGDP00600,HGDP00679,HGDP00699,HGDP01073 dgv121n17 6 67084250 67101152 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv436999,nsv437000 M 60 0 2 "" NA12753,NA12878 nsv463133 6 67086432 67111682 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539163 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00732 esv999721 6 67097055 67100579 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563982 S 3 0 1 "" HuRef esv1009783 6 67097634 67099913 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586029 S 3 0 1 "" HuRef nsv442985 6 67097634 67099913 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv823718 6 67098206 67100079 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441106,nssv1428331,nssv1431359 M 31 0 3 "" AK10,AK18,NA18969 nsv511356 6 67098386 67106127 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625855 S 1 1 0 "" 1 nsv514366 6 67098404 67099936 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627817 S 1414 0 1 "" nsv886061 6 67105019 67959331 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588978 S 6533 1 0 "" IS38271 nsv470829 6 67178806 67211370 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544535 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 nsv463134 6 67179851 67210709 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539164 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00090 nsv823719 6 67189954 67199531 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422648 S 31 1 0 "" NA18552 esv273516 6 67198886 67199225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582240,essv2582976 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv823721 6 67216306 67222960 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426713,nssv1422649 M 31 2 0 "" AK6,NA18552 nsv886062 6 67246514 67305798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517748 S 6533 0 1 "" SP57367 esv28483 6 67267071 67272212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13744 S 451 0 1 "" NA19099 esv2422379 6 67278935 67371216 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161409 S 181 1 0 "" ND02296 esv2011329 6 67291806 67292514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4529993 S 1 0 1 "" NA18507 esv3971 6 67291964 67292422 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26412 S 1 0 1 Single Asian sample YH "" YH esv1669132 6 67291983 67292326 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771290 S 2 0 1 "" HuRef esv9033 6 67291984 67292325 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31474 S 1 0 1 "" SJK esv1011256 6 67291985 67292327 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582962 S 3 0 1 "" HuRef esv2512858 6 67291994 67292336 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180826 S 1 0 1 "" NA18507 nsv527461 6 67328937 67331421 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703904 S 2026 1 0 "" nsv886063 6 67384159 67429521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541153 S 6533 0 1 "" MS15199 nsv886064 6 67384159 67460024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551767 S 6533 0 1 "" MS18978 nsv886065 6 67384159 67613966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546137 S 6533 0 1 "" MS17114 nsv886066 6 67417090 67554588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568133 S 6533 0 1 "" IS31205 nsv463135 6 67424871 67505685 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539165 S 1557 1 0 "" NINDS_73 nsv5331 6 67439946 67484830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8257 S 9 0 1 "" NA12156 nsv886067 6 67442550 67537480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565795 S 6533 0 1 "" IS30522 nsv886068 6 67472976 67554588 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577884 S 6533 0 1 "" IS34599 esv26574 6 67487260 67489901 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10072 S 451 0 3 "" NA18517,NA18523,NA19108 nsv886069 6 67498435 67535384 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500586 S 6533 0 1 "" SP50128 nsv463136 6 67498435 67545704 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539166 S 1557 0 1 "" NINDS_183 nsv830678 6 67508929 67668616 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445430 S 95 1 0 "" nsv886070 6 67545704 68151512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540538 S 6533 0 1 "" MS14907 nsv522182 6 67558222 67615042 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694955 S 2026 1 0 "" nsv470830 6 67613966 67685128 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544537,nssv544536 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199,HGDP01223 dgv6887n71 6 67639346 67712346 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886071,nsv886072 M 6533 0 2 "" IS30899,MS22104 nsv886073 6 67646473 67794523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567197 S 6533 0 1 "" IS31046 esv268754 6 67687978 67688318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498940,essv2497577 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19138,NA19147 esv8700 6 67693342 67693400 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31141 S 1 1 0 "" SJK esv270459 6 67714602 67715434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493223,essv2496537,essv2496282,essv2506262,essv2493522,essv2493858 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18510,NA18511,NA18523,NA19137,NA19210 dgv1963e1 6 67721287 67745004 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7257,esv1170 M 271 0 0 "" NA18635 dgv6888n71 6 67745004 67856286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886075,nsv886074 M 6533 0 2 "" IS31419,IS35083 dgv6889n71 6 67745004 67910211 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886087,nsv886076,nsv886082,nsv886078,nsv886077,nsv886086,nsv886081 M 6533 0 10 "" IS30522,IS31041,IS31205,IS31373,IS32615,IS35788,IS35911,IS36219,MS20872,MS23290 nsv886079 6 67759312 67805803 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566748,nssv1579970,nssv1584569,nssv1570339,nssv1540795,nssv1532040,nssv1545779 M 6533 1 6 "" IS30899,IS31904,IS35196,IS37065,MS10699,MS15036,MS16944 nsv886080 6 67759312 67814351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594705 S 6533 1 0 "" IS39999 dgv6890n71 6 67759312 67969845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886084,nsv886083 M 6533 0 2 "" MS15199,MS18847 nsv886085 6 67759312 68197504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569890 S 6533 0 1 "" IS31729 nsv463140 6 67761542 68034047 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539168 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00185 nsv886088 6 67789469 67856286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546138 S 6533 0 1 "" MS17114 esv273053 6 67790389 67790713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581557 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv830679 6 67809201 67971260 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445431 S 95 0 1 "" nsv518341 6 67814351 67814599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695770 S 2026 0 1 "" nsv463141 6 67814351 67913697 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539169 S 1557 0 1 "" NINDS_89 dgv6891n71 6 67814599 67951801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886089,nsv886090 M 6533 0 2 "" MS15312,MS18978 nsv437510 6 67818167 67832158 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467391 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv5333 6 67819083 67851545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10503 S 9 1 0 "" NA18956 dgv1964e1 6 67821780 67861137 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17996,esv1137 M 271 0 0 "" NA12005 nsv507335 6 67835982 67841982 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620342,nssv621840,nssv622973 M 4 3 0 "" NA10860,NA15510,NA18994 esv2539227 6 67838627 67839487 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234536 S 1 1 0 "" NA18507 nsv7912 6 67844907 67851133 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15046 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv886091 6 67861392 67951801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523447 S 6533 0 1 "" SP54030 esv1333621 6 67884831 67884911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724127 S 2 0 1 "" HuRef nsv886092 6 67891295 67969845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537668 S 6533 0 1 "" MS13292 nsv515832 6 67910211 67913697 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674483,nssv687272,nssv664932 M 2026 3 0 "" nsv886093 6 67913697 67969845 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531412 S 6533 1 0 "" MS10441 esv1145207 6 67919036 67919036 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319534 S 2 1 0 "" HuRef nsv886094 6 67951801 68020113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545851 S 6533 0 1 "" MS16986 nsv886095 6 67978123 68048458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596845,nssv1536528,nssv1562495,nssv1536769,nssv1554154 M 6533 0 5 "" IS40657,MS12827,MS12947,MS20630,MS25617 esv1101012 6 67981661 67981661 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997788 S 2 1 0 "" HuRef nsv886096 6 67991792 68025104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570947 S 6533 0 1 "" IS32365 nsv886097 6 67991792 68354937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591706 S 6533 0 1 "" IS39011 esv24744 6 68000066 68003639 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13145 S 451 0 1 "" NA18502 nsv527154 6 68022441 68053373 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703545 S 2026 1 0 "" nsv525523 6 68033864 68068840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701657 S 2026 0 1 "" nsv886098 6 68086924 68197504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565873 S 6533 0 1 "" IS30532 dgv6892n71 6 68086924 68263826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886103,nsv886104,nsv886102,nsv886106,nsv886099,nsv886100 M 6533 0 13 "" IS30597,IS30899,IS31118,IS31373,IS31634,IS31728,IS31758,IS31875,IS34489,IS35771,IS35924,IS39666,MS15199 nsv463142 6 68121761 68159040 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539170 S 1557 0 1 "" 1780862003_A nsv886101 6 68124980 68213259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558476,nssv1565472,nssv1579918 M 6533 0 3 "" IS30432,IS35189,MS23290 nsv886105 6 68124980 68395853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529804 S 6533 0 1 "" MS10123 dgv6893n71 6 68151512 68347023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886108,nsv886107 M 6533 0 2 "" IS31137,IS31145 esv2083296 6 68158067 68169077 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668520 S 1 0 1 "" NA18507 esv5561 6 68158255 68168889 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28002 S 1 0 1 "" SJK esv2223506 6 68198376 68199322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001857 S 1 0 1 "" NA18507 esv2534889 6 68198528 68200528 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257642 S 1 0 1 "" NA18507 esv1044223 6 68199148 68199148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967547 S 2 1 0 "" HuRef essv13486 6 68213162 68355095 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19192 esv671 6 68213162 68583232 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 "" nsv886109 6 68227880 68293212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586612 S 6533 0 1 "" IS37884 esv34319 6 68272068 68474413 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987793,essv6980443,essv6980444,essv6980445 M 771 0 1 "" NA19192 nsv515700 6 68284933 68492592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659404,nssv664459,nssv657793,nssv668687,nssv656342,nssv680072 M 2026 0 6 "" nsv818426 6 68288763 68492592 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418462 S 112 0 1 "" NA19192 nsv7913 6 68292072 68305854 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16527 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 esv27018 6 68292969 68305346 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19541 S 451 1 0 "" NA18523 dgv6894n71 6 68294512 68347023 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886111,nsv886110 M 6533 0 4 "" IS31728,IS33669,IS37730,IS38239 nsv7915 6 68308129 68327556 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17250 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv886112 6 68326677 68374517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550824 S 6533 0 1 "" MS18620 nsv886113 6 68326677 68428695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542183 S 6533 0 1 "" MS15704 essv11411 6 68326677 68474413 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19192 nsv507336 6 68335175 68341175 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620343,nssv621841,nssv622974,nssv617709 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv7916 6 68342940 68363019 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16032,nssv17280,nssv16557 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132,NA19221 nsv886114 6 68344256 68407783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601110 S 6533 0 1 "" IS41971 nsv5334 6 68362387 68381157 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv557 S 9 1 0 "" NA19240 esv271717 6 68367999 68368334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565624,essv2540970,essv2521297,essv2525971,essv2536541,essv2523033,essv2543984,essv2571043,essv2568215,essv2545445,essv2523235,essv2570368,essv2548381,essv2521659,essv2576583,essv2525523,essv2550308,essv2535329,essv2544485,essv2551979,essv2520557,essv2529315,essv2558564,essv2564638,essv2577651,essv2553695,essv2559772,essv2565461,essv2576339,essv2530678,essv2537512,essv2528501,essv2546710,essv2557458,essv2552519,essv2551856,essv2569479,essv2578538,essv2550182,essv2539084,essv2527250,essv2544984,essv2562832,essv2523739,essv2553035,essv2541256,essv2538250,essv2542970,essv2540454,essv2524708,essv2534687,essv2561149,essv2539654,essv2549507,essv2519764,essv2521904,essv2566200,essv2531073,essv2532743,essv2567803,essv2529039,essv2541580,essv2570213,essv2553497,essv2535534,essv2572591,essv2566769,essv2542065,essv2550964,essv2569014,essv2562502,essv2533919,essv2578436,essv2572983,essv2533643,essv2566650,essv2530022,essv2573788,essv2534418,essv2522580,essv2531553,essv2573634,essv2543252,essv2576943,essv2572102,essv2525679,essv2526997,essv2575336,essv2538622,essv2526568,essv2560613,essv2572646,essv2549898,essv2571089,essv2551490,essv2536275,essv2538041,essv2548989,essv2532958,essv2554634,essv2547947,essv2524908,essv2563432,essv2557938 M 157 104 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12873,NA12878,NA12891,NA12892,NA18499,NA18502,NA18504,NA18508,NA18510,NA18511,NA18519,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18909,NA18916,NA18940,NA18942,NA18944,NA18948,NA18949,NA18951,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19102,NA19108,NA19114,NA19116,NA19143,NA19225,NA19238,NA19257 esv273420 6 68367999 68368334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582003,essv2582698,essv2583084,essv2584179,essv2584798,essv2583543 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1254428 6 68368032 68368032 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4343358 S 2 1 0 "" HuRef esv2513569 6 68370122 68371103 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346701 S 1 1 0 "" NA18507 esv270519 6 68370752 68371092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557989,essv2565837,essv2576068,essv2541069,essv2571645,essv2546442,essv2521445,essv2526309,essv2542240,essv2536445,essv2522947,essv2543904,essv2570888,essv2556705,essv2568145,essv2545352,essv2523229,essv2531778,essv2577547,essv2570515,essv2548322,essv2521838,essv2576826,essv2550522,essv2550431,essv2535258,essv2554282,essv2544468,essv2520638,essv2558335,essv2564674,essv2577786,essv2553701,essv2559597,essv2565352,essv2576201,essv2520078,essv2563986,essv2530842,essv2561837,essv2537502,essv2528544,essv2547097,essv2530502,essv2540028,essv2557410,essv2557132,essv2552493,essv2551689,essv2532315,essv2562672,essv2569444,essv2578517,essv2558956,essv2536891,essv2539211,essv2569747,essv2527248,essv2561615,essv2544951,essv2552770,essv2541210,essv2538247,essv2542964,essv2540648,essv2564824,essv2534912,essv2561253,essv2539737,essv2549129,essv2519659,essv2559780,essv2521969,essv2565920,essv2532539,essv2567855,essv2528691,essv2541829,essv2570010,essv2563918,essv2553393,essv2535533,essv2572271,essv2559373,essv2551024,essv2568918,essv2527747,essv2562152,essv2533851,essv2578158,essv2573149,essv2555788,essv2567113,essv2566545,essv2529902,essv2527635,essv2557728,essv2556094,essv2522475,essv2531530,essv2573349,essv2543242,essv2577006,essv2571875,essv2525777,essv2526923,essv2529521,essv2575775,essv2575129,essv2538779,essv2526427,essv2560728,essv2560836,essv2574885,essv2568587,essv2545231,essv2560372,essv2548088,essv2549832,essv2571157,essv2545718,essv2574446,essv2536030,essv2537979,essv2548969,essv2533368,essv2554427,essv2547698,essv2524781,essv2563438 M 157 130 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18858,NA18861,NA18907,NA18909,NA18916,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240 esv272968 6 68370752 68371092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584843,essv2583418 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1174274 6 68370789 68370789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821021 S 2 1 0 "" HuRef esv997593 6 68374383 68375833 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564819 S 3 1 0 "" HuRef nsv886115 6 68398350 68701040 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588979 S 6533 1 0 "" IS38271 nsv7917 6 68407338 68409366 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14285 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv886116 6 68413012 68664465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579834 S 6533 0 1 "" IS35181 esv1715553 6 68414892 68414892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691644 S 2 1 0 "" HuRef dgv6895n71 6 68436846 68583232 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886122,nsv886117,nsv886120,nsv886121 M 6533 5 0 "" IS33494,IS34482,IS36936,IS37837,IS40415 dgv6896n71 6 68440963 68526807 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886119,nsv886118 M 6533 2 0 "" IS34395,IS38338 nsv5335 6 68443464 68477275 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv558 S 9 1 0 "" NA19240 esv2602527 6 68460888 68462390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380129 S 1 0 1 "" NA18507 esv1418168 6 68461549 68461607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783955 S 2 0 1 "" HuRef dgv6897n71 6 68466760 68562563 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886123,nsv886124 M 6533 0 2 "" IS35083,MS18620 essv19860 6 68474413 68583232 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12234 esv34754 6 68474413 68589700 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978752,essv6978753,essv6986696 M 771 1 0 "" NA12234 dgv6898n71 6 68480050 68583232 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886125,nsv886126 M 6533 2 0 "" IS34762,IS35142 nsv528362 6 68492592 68543635 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704949 S 2026 1 0 "" nsv516610 6 68502776 68506151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661429,nssv687945,nssv689522,nssv673805,nssv687035,nssv655317,nssv676945,nssv655695,nssv669520,nssv683869 M 2026 0 10 "" nsv463143 6 68502776 68509544 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539171 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00912 nsv463144 6 68526807 68620049 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539172 S 1557 0 1 "" 1780854495_A nsv7918 6 68551347 68559308 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16587,nssv15541 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19132,NA19240 esv2645371 6 68558667 68559725 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208597 S 1 1 0 "" NA18507 esv270527 6 68559131 68559477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540683,essv2571629,essv2546453,essv2525968,essv2570906,essv2556802,essv2523180,essv2531704,essv2550644,essv2554167,essv2544388,essv2520623,essv2547420,essv2520099,essv2564018,essv2561864,essv2537481,essv2528388,essv2546735,essv2520897,essv2557445,essv2557110,essv2551756,essv2562714,essv2569348,essv2550240,essv2558947,essv2539230,essv2527106,essv2561325,essv2540637,essv2561161,essv2570180,essv2535719,essv2542004,essv2569113,essv2543570,essv2556383,essv2527767,essv2562391,essv2567210,essv2529800,essv2575463,essv2538562,essv2526547,essv2560873,essv2574863,essv2530318,essv2568760,essv2560246,essv2546113,essv2574240,essv2536312,essv2533352 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA11831,NA11840,NA11881,NA11918,NA11993,NA11994,NA12004,NA12006,NA12155,NA12287,NA12414,NA12716,NA12717,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18504,NA18507,NA18508,NA18511,NA18516,NA18519,NA18522,NA18523,NA18552,NA18562,NA18593,NA18608,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18947,NA19093,NA19099,NA19108,NA19114,NA19137,NA19138,NA19141,NA19147,NA19190,NA19239,NA19240 esv273025 6 68559131 68559477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581779,essv2582719,essv2583030,essv2584167 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 nsv463145 6 68562563 68606194 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539173 S 1557 0 1 "" 1780862585_A nsv463146 6 68589686 68658126 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539174 S 1557 0 1 "" 1780862310_A nsv886127 6 68606717 68714987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569083 S 6533 0 1 "" IS31419 nsv520584 6 68620049 68701040 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672830,nssv674959 M 2026 2 0 "" nsv886128 6 68763852 68840220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565797 S 6533 0 1 "" IS30522 nsv521952 6 68785518 68788356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694721 S 2026 0 1 "" esv2752129 6 68787830 69090289 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984961,essv6984960,essv6988872,essv6984962,essv6987126 M 771 1 0 "" SPC_20 nsv886129 6 68796323 68840220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569084 S 6533 0 1 "" IS31419 esv1444583 6 68818170 68818170 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982375 S 2 1 0 "" HuRef nsv526692 6 68968975 68995030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703029 S 2026 0 1 "" nsv526266 6 68987349 68995030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702539 S 2026 0 1 "" nsv886130 6 69007019 69588678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588980 S 6533 1 0 BAI3 IS38271 nsv5336 6 69039990 69068886 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4922,nssv6069 M 9 2 0 "" NA12156,NA19129 nsv473927 6 69055235 69055531 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv558069 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12156 nsv499826 6 69055235 69055531 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586492 S 9 1 0 "" nsv511345 6 69191730 69198729 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625734 S 1 0 1 "" 1 dgv1050n67 6 69195224 69196124 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823722,nsv823723 M 31 0 6 "" AK14,NA18570,NA18592,NA18951,NA18969,NA18999 esv27901 6 69195286 69196081 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10263 S 451 0 1 "" NA15510 nsv463147 6 69242381 69298741 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539175 S 1557 1 0 "" 1780862076_A nsv830680 6 69248935 69407824 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445432 S 95 1 0 BAI3 esv1000381 6 69255239 69255673 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564681 S 3 1 0 "" HuRef esv272482 6 69255420 69257919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580534,essv2579045,essv2579765 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271055 6 69255422 69257894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510103,essv2503204,essv2496701,essv2511415,essv2512412,essv2502863,essv2513201,essv2495314,essv2510621,essv2504207,essv2503062,essv2509918,essv2493670,essv2498381,essv2494120,essv2507444,essv2495683,essv2499038,essv2493518,essv2498669,essv2510471,essv2496886,essv2512003,essv2501922,essv2498197,essv2502194,essv2495016,essv2511542,essv2504386 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA11829,NA11881,NA11894,NA11920,NA12043,NA12156,NA12249,NA12287,NA18501,NA18505,NA18507,NA18508,NA18517,NA18858,NA18871,NA18912,NA18916,NA19114,NA19137,NA19138,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv1745693 6 69255466 69255466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151802 S 2 1 0 "" HuRef nsv511320 6 69271223 69305849 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625454 S 1 1 0 "" 1 esv26922 6 69286825 69298730 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16262 S 451 2 0 "" NA07045,NA11995 nsv513738 6 69286838 69298965 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626990 S 1 1 0 "" 1 nsv818427 6 69291821 69298741 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415900 S 112 1 0 "" NA11995 nsv515885 6 69291821 69306105 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688753,nssv680361,nssv658939,nssv665182,nssv659060,nssv665156,nssv681383,nssv668222,nssv669138,nssv666907,nssv689878,nssv666167,nssv691885,nssv662218,nssv670396,nssv663503,nssv678104,nssv685129,nssv671310,nssv660041,nssv698484,nssv671675,nssv662800,nssv683600,nssv683964,nssv677628,nssv658515,nssv660911,nssv677331,nssv691951,nssv671244,nssv668822,nssv667475,nssv673806,nssv687484,nssv652807,nssv692563,nssv689345,nssv670355,nssv663159,nssv675587,nssv693390,nssv667161,nssv686190,nssv680894,nssv679329,nssv660851,nssv680061,nssv688177,nssv679448,nssv654485,nssv675183,nssv664189,nssv689686,nssv679258,nssv693946,nssv704319,nssv664659,nssv675152,nssv652908,nssv692499,nssv691036,nssv684914,nssv656790,nssv666570,nssv680523,nssv686252,nssv652264,nssv680605,nssv684551,nssv677798,nssv668931,nssv681787,nssv690486,nssv658724,nssv657513,nssv693357,nssv669982 M 2026 26 52 "" dgv224n6 6 69428106 69428171 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv348881,nsv349406 M 24 BAI3 esv2655218 6 69527449 69528964 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309042 S 1 0 1 BAI3 NA18507 esv2220750 6 69527715 69528628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868822 S 1 0 1 BAI3 NA18507 esv26338 6 69527894 69528390 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15687 S 451 0 1 BAI3 NA18916 nsv886131 6 69537349 69602624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570407 S 6533 0 1 BAI3 IS31980 nsv886132 6 69543925 69667002 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568135 S 6533 0 1 BAI3 IS31205 esv271461 6 69595549 69595634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517161 S 157 1 0 Samples from several populations that are part of the HapMap project. BAI3 hapmap_pooled_sample_set esv269258 6 69600152 69600498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516708,essv2518091,essv2517663,essv2516207,essv2517297,essv2515200,essv2518241,essv2513595 M 157 8 0 Samples from several populations that are part of the HapMap project. BAI3 NA07347,NA11881,NA12872,NA12878,NA12891,NA18970,NA19238,NA19240 esv273298 6 69600160 69600494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582256,essv2582377,essv2582924,essv2584025,essv2584434,essv2583694 M 7 6 0 Samples from several populations that are part of the HapMap project. BAI3 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv269623 6 69600618 69600959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518685,essv2515493,essv2515027,essv2515727,essv2516012 M 157 5 0 Samples from several populations that are part of the HapMap project. BAI3 NA12045,NA12249,NA12812,NA12815,NA12873 nsv886133 6 69606618 69667002 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585011 S 6533 0 1 BAI3 IS37226 dgv6899n71 6 69627774 69663469 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886134,nsv886135 M 6533 0 2 BAI3 IS35229,IS41292 nsv5337 6 69631844 69637795 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8258 S 9 0 1 BAI3 NA12156 nsv528106 6 69638712 69667002 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704647 S 2026 1 0 BAI3 nsv470831 6 69638712 69711371 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544538,nssv544539 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAI3 HGDP00874,HGDP01051 dgv1965e1 6 69652213 69655072 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12159,esv374 M 271 0 0 BAI3 NA19101 nsv886136 6 69655018 69711371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593742 S 6533 0 1 BAI3 IS39512 nsv823724 6 69672716 69673168 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432094 S 31 1 0 BAI3 AK20 dgv383n21 6 69675201 69695225 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525968,nsv519494 M 2026 0 4 BAI3 esv273915 6 69699456 69699557 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580034 S 7 1 0 Samples from several populations that are part of the HapMap project. BAI3 NA12892 esv270564 6 69699467 69699804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516810,essv2519299,essv2516339,essv2514232,essv2516826,essv2517222,essv2513745 M 157 7 0 Samples from several populations that are part of the HapMap project. BAI3 NA07347,NA11881,NA11894,NA12814,NA12874,NA12892,NA18970 esv1455001 6 69699503 69699503 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012652 S 2 1 0 BAI3 HuRef nsv5338 6 69727422 69758081 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2598 S 9 0 1 BAI3 NA18555 nsv886137 6 69741571 70152411 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588981 S 6533 1 0 BAI3 IS38271 esv23558 6 69744407 69748441 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18272 S 451 0 2 BAI3 NA11993,NA12156 nsv499697 6 69744415 69748554 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585987 S 9 0 1 BAI3 esv2421691 6 69744419 69748089 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5045508,essv5126370,essv5101463,essv5045367,essv5119504,essv5135459,essv5150705,essv5153586,essv5157355,essv5099522,essv5140403,essv5122917,essv5006322,essv5128283,essv5097244,essv5085153,essv5103319,essv5147024,essv5087625,essv5026715,essv5041500,essv5045403,essv5061065,essv5008098,essv5076527,essv5042158,essv5018017,essv5143557,essv5144161 M 1184 0 29 BAI3 NA07055,NA10831,NA11831,NA11843,NA11993,NA12156,NA12344,NA12347,NA12752,NA12760,NA12762,NA12843,NA12890,NA12892,NA17968,NA18555,NA19651,NA19761,NA19763,NA20288,NA20504,NA20505,NA20582,NA20756,NA20769,NA20770,NA20774,NA20796,NA20818 nsv517304 6 69744886 69747288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655920,nssv693645,nssv662636,nssv662219,nssv672850,nssv656576,nssv673763,nssv683528,nssv659949,nssv676274,nssv654832,nssv678423,nssv655845,nssv660526,nssv686040,nssv654269,nssv657029,nssv690168,nssv667831,nssv664583,nssv665240,nssv658794,nssv692224,nssv685930,nssv691274,nssv664635,nssv675118,nssv659094,nssv654333,nssv681145,nssv677969,nssv678703,nssv681449,nssv652729,nssv658311,nssv669075 M 2026 0 36 BAI3 nsv514367 6 69745960 69746936 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627818 S 1414 0 1 BAI3 nsv514368 6 69747048 69748160 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627819 S 1414 0 1 BAI3 nsv823725 6 69754068 69754553 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425806 S 31 1 0 BAI3 AK4 nsv463148 6 69802775 69838507 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539176 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BAI3 HGDP00635 esv2572597 6 69867007 69867971 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354332 S 1 1 0 BAI3 NA18507 esv3849 6 69874970 69882105 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26290 S 1 0 1 Single Asian sample YH BAI3 YH esv1175489 6 69888642 69888642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637178 S 2 1 0 BAI3 HuRef nsv526130 6 69908537 69979048 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702384 S 2026 1 0 BAI3 nsv886138 6 69922362 69981003 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572294 S 6533 1 0 BAI3 IS32918 nsv5339 6 69926844 69959001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv559 S 9 1 0 BAI3 NA19240 esv996288 6 69972093 69972516 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564459 S 3 1 0 BAI3 HuRef nsv886139 6 70036710 70098643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556682 S 6533 0 1 BAI3 MS22109 dgv384n21 6 70064171 70086701 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527172,nsv515657 M 2026 0 27 BAI3 esv28766 6 70070809 70075228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17912 S 451 0 3 BAI3 NA18861,NA18907,NA19108 esv271728 6 70162773 70163123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496542,essv2493772,essv2498649,essv2510866,essv2497613,essv2499722 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18517,NA18858,NA19116,NA19147,NA19225 esv1781444 6 70199266 70199452 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850090 S 2 0 1 "" HuRef nsv5340 6 70212880 70257523 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8259 S 9 0 1 "" NA12156 esv27995 6 70245710 70334714 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11472 S 451 1 0 "" NA12006 esv1002130 6 70246987 70249207 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563530 S 3 0 1 "" HuRef nsv524983 6 70271565 70274382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701012 S 2026 0 1 "" nsv527593 6 70271565 70274382 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704054 S 2026 1 0 "" nsv521077 6 70271565 70336066 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697772 S 2026 1 0 "" dgv385n21 6 70272983 70290429 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528131,nsv516477 M 2026 0 14 "" nsv521380 6 70272983 70318028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697989 S 2026 0 1 "" dgv386n21 6 70313042 70318028 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv529047,nsv528668 M 2026 0 2 "" nsv512884 6 70333679 70334092 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625528 S 1 1 0 "" 1 esv1064515 6 70333987 70333987 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169699 S 2 1 0 "" HuRef esv1202105 6 70333992 70333992 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974662 S 2 1 0 "" HuRef esv273167 6 70384431 70384537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580122,essv2580359,essv2579918 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271573 6 70384432 70384773 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519321,essv2514841,essv2518648,essv2517820,essv2516217,essv2516847 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12234,NA12287,NA12878,NA12891,NA12892 nsv886140 6 70411403 70784923 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588982 S 6533 1 0 COL19A1,LMBRD1 IS38271 nsv830682 6 70454572 70649604 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445433 S 95 0 1 COL19A1,LMBRD1 esv999346 6 70485578 70499367 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564675 S 3 0 1 LMBRD1 HuRef nsv819863 6 70505168 70514498 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418573 S 2 0 1 LMBRD1 AK1 esv2038631 6 70516317 70516899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694998 S 1 0 1 LMBRD1 NA18507 nsv886141 6 70647359 70750883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569833 S 6533 0 1 COL19A1 IS31728 nsv463151 6 70681887 70750883 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539178 S 1557 0 1 COL19A1 1780862194_A nsv470832 6 70711378 70824477 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544542,nssv544540,nssv544541 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL19A1 HGDP00863,HGDP00879,HGDP01051 nsv511895 6 70776305 70783358 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624429 S 1 0 1 COL19A1 1 nsv525985 6 70784923 70823225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702205 S 2026 0 1 COL19A1 nsv886142 6 70797930 71308142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598321 S 6533 1 0 COL19A1,COL9A1,FAM135A IS41061 nsv830683 6 70800143 70997911 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445434 S 95 1 0 COL19A1,COL9A1 nsv819361 6 70913299 70913933 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419034 S 2 0 1 COL19A1 AK1 nsv507337 6 70949093 70955093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621842,nssv617710,nssv622975 M 4 3 0 COL19A1 CHM,NA10860,NA18994 esv6420 6 70961885 70961976 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28861 S 1 1 0 COL19A1 SJK esv271252 6 71015575 71015660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517483,essv2515344,essv2515140 M 157 3 0 Samples from several populations that are part of the HapMap project. COL9A1 NA11918,NA12249,NA12812 nsv524328 6 71018554 71615526 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700234 S 2026 1 0 C6orf57,COL9A1,FAM135A,SMAP1 nsv886143 6 71024997 71041157 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519770 S 6533 1 0 COL9A1 SP50544 nsv886144 6 71075188 71270922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524150 S 6533 1 0 FAM135A SP54862 nsv886145 6 71176245 71374201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573640 S 6533 0 1 C6orf57,FAM135A IS33475 nsv886146 6 71276185 71374201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565949 S 6533 0 1 C6orf57,FAM135A IS30539 nsv886147 6 71329974 71528584 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597823 S 6533 1 0 C6orf57,SMAP1 IS41061 esv23596 6 71390040 71390912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19346 S 451 0 1 "" NA18909 nsv819061 6 71624676 71624959 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419670 S 2 0 1 SMAP1 AK1 nsv525542 6 71646230 71656608 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701679 S 2026 1 0 B3GAT2 nsv823726 6 71650629 71651479 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436669 S 31 0 1 B3GAT2 NA18542 nsv886148 6 71679974 71751463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559067 S 6533 0 1 B3GAT2 MS23705 esv275097 6 71688777 71706931 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585433 S 1250 0 1 B3GAT2 esv29496 6 71747418 71748111 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11127 S 451 1 0 "" NA07037 esv2644711 6 71747549 71749240 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208707 S 1 0 1 "" NA18507 esv269689 6 71786006 71786347 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517405,essv2514731,essv2515176,essv2517808,essv2517301 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12234,NA12812,NA12878,NA18970 esv273403 6 71786006 71786347 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581420 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1733248 6 71786037 71786037 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740687 S 2 1 0 "" HuRef esv1982419 6 71795030 71795601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878706 S 1 0 1 "" NA18507 esv3612 6 71795156 71795508 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26053 S 1 0 1 Single Asian sample YH "" YH esv28643 6 71917427 71919359 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17967 S 451 1 0 "" NA18523 nsv527265 6 71924198 71959377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703672 S 2026 0 1 "" dgv6900n71 6 71932498 71993013 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886150,nsv886149 M 6533 0 3 "" SP54579,SP58114,SP81005 nsv526921 6 71946958 72006963 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703285 S 2026 1 0 "" esv1498247 6 71964895 71964895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927798 S 2 1 0 "" HuRef nsv5341 6 71981794 72013657 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8260 S 9 0 1 "" NA12156 esv25459 6 72055131 72055791 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13513 S 451 0 1 OGFRL1 NA07045 esv1655765 6 72082872 72082872 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945160 S 2 1 0 "" HuRef esv271373 6 72096791 72096991 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575857,essv2522665,essv2551929,essv2532316,essv2578770,essv2543587,essv2551506,essv2537980,essv2525073 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11830,NA11931,NA18504,NA18505,NA18510,NA18870,NA19257 esv1000026 6 72096803 72096803 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584713 S 3 1 0 "" HuRef nsv499808 6 72105082 72372671 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585558 S 9 0 0 LINC00472,MIR30A,MIR30C2 nsv7382 6 72133581 72384023 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6070 S 9 0 0 LINC00472,MIR30A,MIR30C2 NA12156 nsv5342 6 72147333 72169445 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3445 S 9 1 0 "" NA12878 nsv830684 6 72151563 72339405 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445435 S 95 1 0 LINC00472,MIR30A nsv5344 6 72256440 72263101 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10504 S 9 1 0 "" NA18956 nsv830685 6 72300728 72467478 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445438,nssv1445437,nssv1445436 M 95 3 0 "" esv274321 6 72311068 72311417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579113 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267818 6 72311075 72311408 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565847,essv2571600,essv2546622,essv2526129,essv2536505,essv2522786,essv2570811,essv2523318,essv2577344,essv2521864,essv2576725,essv2525321,essv2550361,essv2547610,essv2529149,essv2577682,essv2563992,essv2530584,essv2562054,essv2557183,essv2532086,essv2569581,essv2578784,essv2537121,essv2569674,essv2561496,essv2544988,essv2538197,essv2542697,essv2540385,essv2524628,essv2564880,essv2561185,essv2549354,essv2519732,essv2560018,essv2522310,essv2531053,essv2532601,essv2567884,essv2570071,essv2563672,essv2553436,essv2535787,essv2572539,essv2559073,essv2566700,essv2550999,essv2569025,essv2528161,essv2562173,essv2539357,essv2534106,essv2578293,essv2573088,essv2555254,essv2555700,essv2566565,essv2530062,essv2573991,essv2557721,essv2555810,essv2534303,essv2531467,essv2573588,essv2543234,essv2572174,essv2525742,essv2526914,essv2575653,essv2575295,essv2526382,essv2524253,essv2574650,essv2572816,essv2568805,essv2560207,essv2549934,essv2545983,essv2551346,essv2537861,essv2533158,essv2554602,essv2547877,essv2524791 M 157 85 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA07357,NA11829,NA11840,NA11881,NA11918,NA11920,NA11931,NA11993,NA12004,NA12043,NA12144,NA12154,NA12156,NA12234,NA12717,NA12749,NA12761,NA12828,NA12873,NA12874,NA18501,NA18505,NA18508,NA18510,NA18517,NA18520,NA18523,NA18526,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19099,NA19102,NA19114,NA19129,NA19138,NA19143,NA19147,NA19190,NA19225,NA19239,NA19257 esv1375505 6 72339021 72339021 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765705 S 2 1 0 "" HuRef nsv830686 6 72393617 72590988 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445439 S 95 1 0 "" nsv5345 6 72426595 72459842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2599 S 9 1 0 "" NA18555 nsv823727 6 72451051 72451969 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432095 S 31 1 0 "" AK20 esv271206 6 72490135 72490252 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504106,essv2493964,essv2513556 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18871,NA18907 nsv830687 6 72558108 72736281 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445441 S 95 1 0 RIMS1 esv22191 6 72617009 72617501 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11319 S 451 3 0 "" NA18858,NA19108,NA19129 esv2579507 6 72627906 72629723 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269887 S 1 0 1 "" NA18507 esv2345037 6 72627959 72628678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498052 S 1 0 1 "" NA18507 esv3205 6 72628061 72628593 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25646 S 1 0 1 Single Asian sample YH "" YH esv1282219 6 72628163 72628484 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742933 S 2 0 1 "" HuRef esv7454 6 72628167 72628476 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29895 S 1 0 1 "" SJK esv272838 6 72637184 72637512 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582216,essv2582324,essv2583046,essv2584712,essv2583515 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv270099 6 72637185 72637513 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571563,essv2525860,essv2536777,essv2521647,essv2576528,essv2534999,essv2520479,essv2558448,essv2577868,essv2553513,essv2565413,essv2576315,essv2537649,essv2528247,essv2520931,essv2557537,essv2557133,essv2552487,essv2532419,essv2562741,essv2569592,essv2527045,essv2561625,essv2524466,essv2570106,essv2541948,essv2569104,essv2543459,essv2556391,essv2528074,essv2539296,essv2533909,essv2529757,essv2575328,essv2538793,essv2526425,essv2560609,essv2574678,essv2568508,essv2545079,essv2560458,essv2548147,essv2571137,essv2545833,essv2574475,essv2551426,essv2536028,essv2538014,essv2549037,essv2533139,essv2554609 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA11840,NA11918,NA11920,NA12144,NA12154,NA12249,NA12716,NA12750,NA12761,NA12763,NA12812,NA12814,NA12878,NA12891,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18522,NA18523,NA18555,NA18593,NA18856,NA18861,NA18870,NA18871,NA18907,NA18912,NA18916,NA19093,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19172,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv1720242 6 72637217 72637217 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068467 S 2 1 0 "" HuRef esv2397759 6 72642043 72642493 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947205 S 1 0 1 "" NA18507 esv2854 6 72642154 72642377 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25295 S 1 0 1 Single Asian sample YH "" YH esv1010562 6 72642208 72642285 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570227 S 3 0 1 "" HuRef esv1718628 6 72642266 72642344 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038258 S 2 0 1 "" HuRef nsv886151 6 72664315 72753745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545944 S 6533 1 0 RIMS1 MS17056 nsv507338 6 72701637 72707637 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622976,nssv621843,nssv617711,nssv620345 M 4 4 0 RIMS1 CHM,NA10860,NA15510,NA18994 nsv5346 6 72711662 72720457 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8261 S 9 0 1 RIMS1 NA12156 nsv886152 6 72763209 73030784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591707 S 6533 0 1 RIMS1 IS39011 esv2452816 6 72780975 72782366 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223650 S 1 0 1 RIMS1 NA18507 esv271195 6 72810074 72810159 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514504,essv2517775,essv2516263,essv2516833,essv2515281,essv2518949,essv2518258 M 157 7 0 Samples from several populations that are part of the HapMap project. RIMS1 NA11840,NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv273279 6 72810075 72810389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582215,essv2582630,essv2583998,essv2583768 M 7 4 0 Samples from several populations that are part of the HapMap project. RIMS1 NA12878,NA12891,NA19238,NA19240 nsv5347 6 72847084 72873361 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8262,nssv11129 M 9 2 0 RIMS1 NA12156,NA15510 nsv509139 6 72851533 72858232 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620854 S 4 1 0 RIMS1 NA15510 nsv286 6 72854234 72873361 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv286 S 1 1 0 RIMS1 NA15510 nsv830688 6 72901830 73076892 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445442 S 95 1 0 RIMS1 nsv5348 6 72917793 72944916 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6071,nssv3446 M 9 0 2 RIMS1 NA12156,NA12878 esv2599517 6 72918522 72931343 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328052 S 1 0 1 RIMS1 NA18507 nsv819587 6 72919972 72931679 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418617 S 2 1 0 RIMS1 AK1 esv2536377 6 72920241 72931230 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389586 S 1 0 1 RIMS1 NA18507 esv2298302 6 72920417 72930379 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580648 S 1 0 1 RIMS1 NA18507 nsv823728 6 72920431 72931559 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438877,nssv1433219,nssv1434460,nssv1424254,nssv1435128 M 31 0 5 RIMS1 NA18570,NA18582,NA18592,NA18942,NA18973 nsv823729 6 72920519 72924549 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430623 S 31 0 1 RIMS1 AK16 nsv821430 6 72920519 72931559 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420590 S 1 0 1 RIMS1 NA10851 nsv499825 6 72920572 72930259 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585988 S 9 0 1 RIMS1 esv23486 6 72920581 72931239 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11694,esv16133 M 451 30 0 RIMS1 NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12239,NA12489,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv514369 6 72920584 72924496 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627820 S 1414 0 1 RIMS1 nsv349724 6 72953920 72963004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368302 M 24 RIMS1 nsv507339 6 72972503 72978503 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622977 S 4 1 0 RIMS1 NA18994 nsv470833 6 73021640 73086596 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544544 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RIMS1 HGDP00875 esv2619394 6 73065013 73066591 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214769 S 1 0 1 RIMS1 NA18507 nsv5349 6 73161511 73197013 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3447 S 9 1 0 RIMS1 NA12878 nsv886153 6 73182251 73222052 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572210 S 6533 0 1 "" IS32891 nsv510036 6 73198209 73204209 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622119,nssv618238 M 4 0 2 "" CHM,NA10860 esv3376 6 73208518 73208995 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25817 S 1 0 1 Single Asian sample YH "" YH nsv524673 6 73244812 73250711 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700644 S 2026 0 1 "" esv275058 6 73275400 73284504 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586033,essv2586128 M 1250 1 1 "" nsv823730 6 73418662 73421820 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440384 S 31 0 1 KCNQ5 NA18547 nsv463152 6 73426460 73463611 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539179 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNQ5 HGDP01352 dgv86n68 6 73442278 73631025 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv830690,nsv830689 M 95 3 0 KCNQ5 nsv510037 6 73489649 73495649 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622120,nssv624006 M 4 0 2 KCNQ5 NA10860,NA18994 nsv886154 6 73498960 73528404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575404 S 6533 0 1 KCNQ5 IS33738 nsv830691 6 73587699 73800369 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445446 S 95 1 0 KCNQ5,MIR4282 nsv470834 6 73603471 73653326 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544545 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNQ5 HGDP00875 nsv886155 6 73608658 73706051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585352 S 6533 0 1 KCNQ5 IS37428 nsv886156 6 73635136 73660396 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582955 S 6533 0 1 KCNQ5 IS36219 esv2220817 6 73707600 73708019 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980010 S 1 0 1 KCNQ5 NA18507 nsv349877 6 73707787 73707837 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368455 M 24 KCNQ5 esv2179651 6 73707940 73708387 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692434 S 1 0 1 KCNQ5 NA18507 nsv521957 6 73740496 73744473 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694726 S 2026 1 0 KCNQ5 esv273861 6 73772771 73772856 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581409,essv2581058 M 7 2 0 Samples from several populations that are part of the HapMap project. KCNQ5 NA12878,NA19240 nsv519218 6 73902020 73919577 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696707 S 2026 1 0 KCNQ5 nsv525926 6 73912675 73913132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702130 S 2026 0 1 KCNQ5 esv1004012 6 73923596 73927176 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564025 S 3 0 1 KCNQ5 HuRef nsv823732 6 73960829 73961716 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432096 S 31 0 1 KCNQ5 AK20 esv1498476 6 73972140 73972140 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192150 S 2 1 0 "" HuRef esv27877 6 73975663 73976603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20259 S 451 0 2 "" NA11931,NA12878 nsv886157 6 73979282 74026443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577366 S 6533 0 1 KHDC1,KHDC1L IS34422 esv1171519 6 73982309 73982309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869608 S 2 1 0 "" HuRef esv1179852 6 74056390 74056390 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3739249 S 2 1 0 C6orf147 HuRef nsv518874 6 74071189 74098145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696332 S 2026 0 1 C6orf147 nsv527029 6 74103723 74105544 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703404 S 2026 1 0 "" nsv830693 6 74106063 74272801 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445447,nssv1445448 M 95 0 2 C6orf221,DDX43,DPPA5,MB21D1,MTO1,OOEP nsv518515 6 74178876 74182805 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695956 S 2026 0 1 DDX43 nsv886158 6 74182805 74493546 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549351 S 6533 1 0 CD109,DDX43,EEF1A1,MB21D1,MTO1,SLC17A5 MS18195 esv2461232 6 74212043 74213637 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339785 S 1 0 1 MB21D1 NA18507 esv2264885 6 74212698 74213380 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527205 S 1 0 1 MB21D1 NA18507 esv4605 6 74212790 74213250 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27046 S 1 0 1 Single Asian sample YH MB21D1 YH esv6440 6 74212880 74213196 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28881 S 1 0 1 MB21D1 SJK esv1755651 6 74212887 74213212 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318692 S 2 0 1 MB21D1 HuRef nsv823733 6 74239920 74240370 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432098 S 31 0 1 MTO1 AK20 esv2561271 6 74273051 74273548 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272321 S 1 1 0 "" NA18507 nsv512885 6 74273089 74273428 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625529 S 1 1 0 "" 1 esv1480101 6 74273378 74273378 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088510 S 2 1 0 "" HuRef nsv5350 6 74278716 74323809 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8263 S 9 0 1 EEF1A1 NA12156 nsv886159 6 74279874 74332126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543475 S 6533 0 1 EEF1A1 MS16153 nsv463153 6 74285979 74347012 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539180 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EEF1A1 HGDP00520 nsv527357 6 74309987 74382124 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703786 S 2026 1 0 SLC17A5 esv2527574 6 74330081 74330816 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370282 S 1 1 0 "" NA18507 nsv886160 6 74361997 74398310 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532833 S 6533 1 0 SLC17A5 MS10871 esv1085598 6 74368087 74368138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256612 S 2 0 1 SLC17A5 HuRef esv23040 6 74397041 74398970 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15081 S 451 0 1 SLC17A5 NA19114 esv1724578 6 74398647 74398647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4237307 S 2 1 0 SLC17A5 HuRef esv2647946 6 74398909 74399343 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244733 S 1 0 1 SLC17A5 NA18507 nsv349088 6 74426240 74428428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367666 M 24 "" esv1113556 6 74427214 74427264 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813830 S 2 0 1 "" HuRef esv33462 6 74436452 74438679 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94057,essv99747 M 51 0 2 "" 21802,22217 nsv463154 6 74468769 74832624 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539181 S 1557 1 0 CD109 1780862347_A esv2499472 6 74477568 74479112 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189598 S 1 0 1 CD109 NA18507 esv2379909 6 74477791 74478469 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525500 S 1 0 1 CD109 NA18507 esv9431 6 74477976 74478314 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31872 S 1 0 1 CD109 SJK esv1316113 6 74477983 74478289 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149122 S 2 0 1 CD109 HuRef nsv348528 6 74477984 74478289 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367106 M 24 CD109 nsv527906 6 74525581 74531768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704412 S 2026 0 1 CD109 nsv528148 6 74525581 74550153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704695 S 2026 0 1 CD109 esv29490 6 74560935 74563066 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14810 S 451 1 0 CD109 NA19129 esv268307 6 74561540 74561875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575838,essv2540910,essv2571734,essv2546322,essv2521387,essv2526272,essv2542524,essv2536411,essv2522911,essv2571079,essv2556646,essv2568294,essv2545407,essv2532021,essv2570650,essv2550838,essv2525281,essv2535020,essv2554294,essv2544490,essv2520477,essv2558251,essv2564444,essv2553698,essv2559600,essv2565256,essv2576419,essv2554989,essv2561999,essv2537468,essv2528430,essv2547000,essv2539984,essv2520784,essv2557559,essv2557223,essv2552635,essv2551942,essv2532060,essv2562800,essv2569380,essv2578849,essv2558758,essv2536996,essv2538990,essv2569794,essv2527284,essv2561485,essv2544843,essv2562842,essv2523913,essv2552869,essv2538427,essv2542848,essv2524673,essv2564828,essv2534850,essv2560976,essv2519583,essv2559876,essv2522157,essv2565908,essv2531194,essv2532821,essv2567411,essv2541547,essv2570043,essv2566982,essv2542033,essv2550875,essv2543431,essv2556221,essv2539346,essv2533958,essv2578354,essv2573189,essv2555212,essv2555626,essv2567227,essv2566427,essv2530179,essv2543155,essv2577046,essv2571854,essv2526938,essv2529810,essv2575719,essv2575322,essv2538637,essv2526589,essv2560643,essv2574567,essv2530250,essv2572828,essv2568470,essv2545143,essv2560321,essv2549748,essv2571552,essv2545849,essv2574438,essv2551220,essv2535940,essv2537918,essv2548749,essv2533047,essv2547793,essv2525151,essv2558053 M 157 109 0 Samples from several populations that are part of the HapMap project. CD109 NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA11995,NA12003,NA12006,NA12044,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12750,NA12751,NA12763,NA12776,NA12812,NA12814,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18582,NA18592,NA18593,NA18853,NA18856,NA18858,NA18870,NA18871,NA18912,NA18916,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18965,NA18970,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274437 6 74561541 74561874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582247,essv2582309,essv2584193,essv2584740,essv2583469 M 7 5 0 Samples from several populations that are part of the HapMap project. CD109 NA12878,NA12891,NA19238,NA19239,NA19240 nsv526236 6 74620278 74719628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702503 S 2026 0 1 "" esv27286 6 74621502 74703234 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17644,esv14513,esv14830 M 451 2 12 "" NA07045,NA11931,NA11995,NA12239,NA12287,NA12414,NA12749,NA18505,NA18508,NA18916,NA19099,NA19114,NA19147,NA19190 dgv1966e1 6 74624342 74681784 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10720,esv1320,essv16179 M 271 0 0 "" NA18506,NA18508 esv34305 6 74628530 74732000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986817,essv6979225 M 771 1 0 "" NA18508 esv32624 6 74630950 74636534 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99985 S 51 0 1 "" 22086 nsv823734 6 74634575 74636592 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429858 S 31 0 1 "" AK14 nsv508412 6 74635518 74691317 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618791,nssv619976,nssv622550,nssv617522 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv34860 6 74636900 74690339 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979207,essv6979206 M 771 1 0 "" NA18506 nsv5351 6 74646855 74699905 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3448,nssv10505,nssv6072 M 9 0 3 "" NA12156,NA12878,NA18956 esv2647833 6 74648063 74659755 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262307 S 1 0 1 "" NA18507 nsv436493 6 74648523 74659386 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466297 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2028549 6 74648600 74659383 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687214 S 1 0 1 "" NA18507 dgv1051n67 6 74648735 74655488 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823735,nsv823737,nsv823736 M 31 0 13 "" AK12,AK16,AK18,AK4,AK8,NA18537,NA18547,NA18552,NA18564,NA18566,NA18951,NA18973,NA18999 nsv7919 6 74648748 74662262 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13720,nssv14898,nssv15076,nssv13459,nssv14335,nssv14535,nssv14516,nssv14998,nssv14315,nssv15639,nssv15246 M 31 1 10 Samples from several populations that are part of the HapMap project. "" NA10847,NA10863,NA12740,NA12802,NA18537,NA18552,NA18564,NA18572,NA18980,NA19007,NA19144 esv4040 6 74648760 74659296 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26481 S 1 0 1 Single Asian sample YH "" YH nsv499343 6 74648788 74659170 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585989 S 9 0 1 "" esv7320 6 74648790 74659190 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29761 S 1 0 1 "" SJK nsv514370 6 74648872 74655344 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627821 S 1414 0 0 "" esv2421765 6 74648953 74658138 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5082126,essv5078042,essv5009209,essv5132153,essv5132899,essv5077947,essv5018062,essv5087952,essv5077842,essv5074552,essv5102028,essv5117069,essv5015694,essv5069222,essv5041256,essv5028676,essv5066899,essv5041978,essv5104324,essv5135860,essv5043638,essv5150813,essv5148332,essv5134778,essv5036540,essv5014987,essv5079008,essv5007449,essv5109226,essv5131566,essv5101685,essv5060716,essv5018875,essv5116201,essv5054116,essv5078784,essv5073098,essv5006225,essv5149782,essv5034311,essv5059980,essv5158891,essv5011985,essv5123275,essv5026675,essv5118742,essv5036947,essv5029665,essv5001962,essv5036119,essv5052741,essv5075615,essv5094430,essv5106661,essv5089717,essv5112811,essv5020484,essv5011638,essv5023019,essv5151431,essv5113693,essv5035073,essv5119972,essv5055260,essv5124721,essv5068853,essv5131190,essv5113586,essv5087759,essv5052120,essv5139408,essv5002626,essv5014020,essv5106384,essv5048429,essv5161171,essv5094019,essv5108098,essv5056682,essv5035579,essv5070784,essv5148395,essv5112109,essv5119703,essv5075478,essv5059612,essv5030127,essv5024523,essv5073124,essv5107914,essv5104478,essv5018258,essv5102651,essv5052378,essv5055407,essv5156462,essv5147430,essv5013596,essv5120151,essv5053237,essv5113742,essv5107395,essv5049681,essv5152655,essv5149514,essv5054608,essv5020271,essv5119948,essv5024859,essv5112003,essv5038931,essv5097695,essv5064177,essv5045633,essv5037423,essv5144425,essv5006137,essv5022743,essv5150793,essv5133511,essv5121377,essv5047627,essv5115518,essv5015416,essv5108292,essv5068732,essv5038683,essv5094804,essv5028936,essv5079970,essv5031731,essv5008647,essv5122648,essv5055192,essv5071436,essv5034439,essv5002939,essv5031132,essv5095071,essv5067599,essv5132831,essv5097919,essv5057524,essv5046186,essv5051990,essv5065517,essv5051502,essv5082646,essv5153879,essv5097232,essv5010801,essv5089980,essv5028776,essv5037229,essv5038751,essv5045896,essv5136495,essv5038520,essv5061319,essv5068591,essv5060311,essv5088689,essv5094932,essv5079230,essv5122504,essv5034681,essv5160685,essv5046460,essv5151843,essv5062436,essv5118803,essv5160449,essv5003093,essv5064018,essv5002835,essv5081581,essv5101573,essv5105858,essv5065110,essv5014804,essv5103920,essv5045848,essv5081805,essv5044247,essv5066916,essv5065878,essv5019705,essv5062165,essv5045893,essv5144303,essv5008773,essv5108174,essv5091860,essv5093190,essv5022810,essv5102602,essv5099221,essv5013026,essv5069798,essv5051219,essv5041300,essv5160731,essv5025609,essv5014760,essv5137833,essv5061983,essv5131741,essv5072904,essv5058275,essv5085888,essv5129016,essv5155494,essv5026725,essv5093545,essv5149265,essv5011469,essv5056915,essv5130503,essv5108051,essv5105854,essv5079582,essv5141224,essv5072918,essv5065693,essv5118068,essv5149473,essv5056835,essv5020790,essv5095694,essv5136384,essv5089696,essv5066578,essv5042879,essv5015273,essv5155089,essv5100197,essv5137695,essv5015627,essv5061546,essv5024945,essv5121554,essv5025387,essv5132617,essv5008844,essv5087114,essv5077868,essv5046491,essv5145076,essv5127687,essv5100074,essv5127920,essv5053288,essv5157382,essv5013658,essv5092981,essv5160501,essv5041416,essv5119296,essv5134973,essv5030285,essv5047338,essv5061367,essv5064473,essv5025551,essv5047129,essv5090673,essv5048977,essv5040149,essv5018236,essv5133258,essv5108478,essv5024301,essv5079103,essv5128127,essv5047659,essv5129264,essv5094240,essv5023514,essv5119401,essv5012519,essv5142514,essv5131094,essv5030178,essv5095994,essv5011015,essv5127640,essv5090613,essv5136542,essv5078416,essv5094656,essv5030614,essv5157961,essv5071074,essv5111370,essv5042253,essv5155938,essv5052130,essv5021861,essv5160793,essv5085135,essv5014864,essv5007933,essv5015869,essv5137289,essv5061630,essv5152112,essv5106600,essv5065793,essv5036020,essv5041662,essv5080234,essv5111099,essv5091543,essv5058003,essv5153472,essv5050577,essv5135864,essv5147339,essv5008304,essv5070994,essv5002807,essv5105965,essv5133621,essv5102459,essv5107545,essv5137203,essv5069375,essv5035302,essv5130630,essv5146057,essv5066561,essv5043059,essv5024717,essv5094790,essv5087189,essv5021410,essv5033194,essv5124282,essv5122930,essv5039963,essv5113701,essv5044897,essv5048016,essv5053836,essv5127552,essv5119492,essv5070039,essv5018403,essv5023116,essv5054871,essv5007676,essv5131876,essv5057886,essv5049440,essv5139101,essv5038040,essv5023725,essv5113777,essv5050501,essv5158496,essv5104068,essv5127864,essv5132258,essv5003056,essv5006591,essv5095958,essv5095124,essv5004070,essv5150208,essv5144808,essv5063403,essv5124389,essv5083584,essv5154200,essv5110788,essv5091781,essv5045373,essv5111700,essv5127457,essv5029547,essv5009065,essv5154373,essv5010481,essv5122470,essv5147422,essv5138511,essv5136005,essv5108583,essv5045219,essv5017078,essv5113751,essv5103976,essv5007425,essv5036877,essv5148391,essv5142043,essv5124657,essv5073317,essv5037145,essv5049333,essv5034976,essv5060446,essv5031977,essv5091869,essv5050517,essv5014379,essv5125179,essv5018047,essv5097172,essv5128844,essv5043150,essv5131524,essv5070066,essv5090271,essv5139836,essv5154294,essv5041534,essv5095624,essv5038452,essv5002131,essv5042768,essv5065118,essv5032870,essv5070512,essv5094472,essv5064969,essv5015187,essv5045216,essv5125888,essv5156461,essv5002941,essv5034706,essv5065045,essv5041984,essv5083031,essv5078696,essv5070630,essv5027615,essv5124289,essv5123376,essv5012507,essv5026631,essv5109614,essv5135433,essv5010772,essv5075822,essv5149344,essv5083545,essv5037611,essv5080819,essv5044915,essv5145060,essv5112465,essv5113163,essv5037276,essv5109634,essv5044954,essv5043275,essv5025808,essv5147246,essv5137937,essv5064612,essv5096866,essv5103697,essv5141113,essv5085548,essv5093576,essv5102979,essv5096457,essv5106598,essv5059424,essv5144620,essv5154352,essv5040813,essv5019979,essv5081612,essv5102897,essv5040158,essv5100763,essv5018663,essv5107606,essv5021608,essv5018572,essv5047238,essv5068412,essv5036238,essv5115046,essv5015660,essv5019901,essv5095982,essv5029339,essv5019169,essv5066022,essv5060235,essv5129853,essv5119494,essv5017374,essv5133551,essv5082338,essv5033946,essv5151989,essv5093923,essv5107900,essv5046996,essv5015975,essv5138367,essv5052974,essv5076055,essv5041338,essv5005316,essv5021747,essv5131111,essv5079114,essv5070130,essv5064742,essv5122221,essv5103720,essv5154655,essv5084343,essv5151561,essv5001925,essv5010487,essv5034664,essv5068505,essv5012432,essv5149411,essv5046122,essv5022053,essv5125694,essv5102932,essv5084896,essv5095701,essv5133289,essv5146547,essv5064383,essv5075169,essv5152233,essv5010364,essv5160990,essv5013003,essv5036212,essv5157475,essv5034470,essv5021806,essv5023316 M 1184 0 545 "" NA06984,NA06986,NA06989,NA06993,NA06994,NA06995,NA06997,NA07045,NA07056,NA07345,NA07346,NA07347,NA07349,NA07357,NA07435,NA10830,NA10836,NA10837,NA10840,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10859,NA10863,NA10864,NA10865,NA11829,NA11831,NA11832,NA11840,NA11843,NA11882,NA11892,NA11893,NA11917,NA11918,NA11930,NA11931,NA11992,NA11994,NA11995,NA12045,NA12056,NA12057,NA12144,NA12146,NA12154,NA12234,NA12239,NA12272,NA12273,NA12275,NA12282,NA12287,NA12342,NA12343,NA12376,NA12383,NA12399,NA12400,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12751,NA12767,NA12778,NA12802,NA12812,NA12814,NA12817,NA12818,NA12827,NA12830,NA12832,NA12842,NA12864,NA12865,NA12873,NA12874,NA12877,NA12889,NA12890,NA12891,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17977,NA17979,NA17982,NA17983,NA17986,NA17987,NA17989,NA17993,NA17995,NA17996,NA17997,NA17998,NA18101,NA18105,NA18107,NA18108,NA18109,NA18117,NA18122,NA18125,NA18127,NA18128,NA18129,NA18134,NA18136,NA18138,NA18140,NA18146,NA18147,NA18155,NA18157,NA18160,NA18484,NA18485,NA18487,NA18488,NA18489,NA18497,NA18499,NA18503,NA18505,NA18507,NA18529,NA18532,NA18534,NA18537,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18558,NA18559,NA18564,NA18566,NA18571,NA18572,NA18577,NA18579,NA18594,NA18595,NA18596,NA18597,NA18599,NA18603,NA18608,NA18609,NA18610,NA18611,NA18612,NA18614,NA18615,NA18616,NA18617,NA18621,NA18623,NA18624,NA18626,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18643,NA18645,NA18647,NA18694,NA18696,NA18702,NA18745,NA18747,NA18749,NA18757,NA18855,NA18857,NA18868,NA18873,NA18913,NA18914,NA18916,NA18933,NA18935,NA18939,NA18943,NA18944,NA18945,NA18946,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18961,NA18962,NA18963,NA18964,NA18971,NA18973,NA18976,NA18980,NA18994,NA18999,NA19002,NA19005,NA19009,NA19010,NA19027,NA19036,NA19038,NA19041,NA19054,NA19057,NA19059,NA19060,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19076,NA19077,NA19079,NA19081,NA19084,NA19085,NA19086,NA19087,NA19088,NA19094,NA19096,NA19097,NA19098,NA19114,NA19117,NA19137,NA19141,NA19142,NA19143,NA19144,NA19147,NA19152,NA19160,NA19161,NA19175,NA19176,NA19179,NA19180,NA19181,NA19189,NA19190,NA19191,NA19206,NA19235,NA19237,NA19256,NA19309,NA19310,NA19311,NA19314,NA19315,NA19317,NA19346,NA19359,NA19371,NA19373,NA19374,NA19391,NA19393,NA19396,NA19397,NA19435,NA19439,NA19445,NA19451,NA19455,NA19456,NA19457,NA19466,NA19467,NA19625,NA19649,NA19652,NA19653,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19700,NA19702,NA19708,NA19712,NA19716,NA19718,NA19720,NA19721,NA19722,NA19724,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19757,NA19762,NA19770,NA19771,NA19772,NA19773,NA19775,NA19776,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19794,NA19900,NA19914,NA20277,NA20279,NA20281,NA20282,NA20284,NA20288,NA20301,NA20302,NA20333,NA20334,NA20336,NA20337,NA20346,NA20348,NA20356,NA20502,NA20504,NA20506,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20525,NA20528,NA20529,NA20538,NA20542,NA20543,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20758,NA20760,NA20761,NA20765,NA20770,NA20772,NA20773,NA20774,NA20775,NA20786,NA20787,NA20792,NA20796,NA20797,NA20802,NA20804,NA20805,NA20808,NA20809,NA20810,NA20811,NA20812,NA20815,NA20819,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20854,NA20856,NA20861,NA20869,NA20870,NA20874,NA20876,NA20877,NA20879,NA20881,NA20882,NA20888,NA20889,NA20890,NA20891,NA20895,NA20896,NA20897,NA20898,NA20899,NA20902,NA20903,NA20904,NA20907,NA20908,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21103,NA21105,NA21106,NA21107,NA21109,NA21111,NA21112,NA21115,NA21116,NA21118,NA21119,NA21123,NA21125,NA21142,NA21144,NA21300,NA21308,NA21309,NA21311,NA21316,NA21333,NA21339,NA21352,NA21353,NA21356,NA21365,NA21367,NA21371,NA21378,NA21379,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21400,NA21420,NA21424,NA21435,NA21451,NA21453,NA21454,NA21455,NA21457,NA21478,NA21480,NA21489,NA21491,NA21509,NA21523,NA21525,NA21573,NA21577,NA21582,NA21583,NA21596,NA21597,NA21613,NA21619,NA21634,NA21635,NA21636,NA21685,NA21686,NA21689,NA21733,NA21738,NA21739 nsv442986 6 74648957 74658138 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2620784 6 74649034 74659002 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234823 S 1 0 1 "" NA18507 esv33723 6 74649045 74655248 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97553,essv101205,essv100699,essv94124,essv97042,essv95543,essv95299,essv97436,essv94550,essv92685,essv93769,essv96110,essv99872,essv99193,essv97667,essv100415,essv98416,essv96377,essv94160 M 51 0 19 "" 21616,21618,21656,21802,21817,21847,21872,21879,21932,21944,21972,22007,22086,22275,22278,22300,22352,22371,22394 nsv511896 6 74670104 74677276 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624430 S 1 0 1 "" 1 esv1082741 6 74724739 74724739 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189589 S 2 1 0 "" HuRef esv2422169 6 74765595 74773741 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051736,essv5115595,essv5009216,essv5065340,essv5090769,essv5071737,essv5096665,essv5066523,essv5110591,essv5090718,essv5068099,essv5075038,essv5097834,essv5158194,essv5090574,essv5101495,essv5056486,essv5100962,essv5054719,essv5017557,essv5052696,essv5071236,essv5062790,essv5144873,essv5075257,essv5144100,essv5107840,essv5088703,essv5110004,essv5111365,essv5128030,essv5138489,essv5141359,essv5126797,essv5019306,essv5026630,essv5023195,essv5028183,essv5100757,essv5055977,essv5045890,essv5090529,essv5038486,essv5148570,essv5146533,essv5068206,essv5044764,essv5081911,essv5092606,essv5067516,essv5040164,essv5137799,essv5073620,essv5047293,essv5129762,essv5091275,essv5091312,essv5049211,essv5136853,essv5047997,essv5020286,essv5092999,essv5080071,essv5065608,essv5147669,essv5032465,essv5006672,essv5062172,essv5075182,essv5048886,essv5083938,essv5064356,essv5156995,essv5085940,essv5039008,essv5024073,essv5088736,essv5065135,essv5007385,essv5103005,essv5061094,essv5055884,essv5141976,essv5090034,essv5066617,essv5114627,essv5067267,essv5117066,essv5142741,essv5025587,essv5153154,essv5009981,essv5056177,essv5133741,essv5154694,essv5098078,essv5046287,essv5030147,essv5004556,essv5023053,essv5039345,essv5093612,essv5061459,essv5015208,essv5143970,essv5035885,essv5038338,essv5123909,essv5141655,essv5004873,essv5076979,essv5100589,essv5136419,essv5016315,essv5041454,essv5067131,essv5092069,essv5097967,essv5069239,essv5082626,essv5121569,essv5085753,essv5016918,essv5018040,essv5155959,essv5135148,essv5132614,essv5112912,essv5107354,essv5005815,essv5117178,essv5032223,essv5152244,essv5006611,essv5022970,essv5068321,essv5158004,essv5111998,essv5012396,essv5125515,essv5100447,essv5086281,essv5097031,essv5085876,essv5057990,essv5028541,essv5130358,essv5052855,essv5008875,essv5032659,essv5079457,essv5071802,essv5083248,essv5033856,essv5144563,essv5156241,essv5076793,essv5067338,essv5034223,essv5021370,essv5145416,essv5084605,essv5128447,essv5067566,essv5148145,essv5025344,essv5142197,essv5045794,essv5038260,essv5138962,essv5003315,essv5049162,essv5035571,essv5120708,essv5076012,essv5136795,essv5043845,essv5085142,essv5127236,essv5156479,essv5141644,essv5125131,essv5048003,essv5107048 M 1184 184 0 "" NA07051,NA07055,NA07347,NA07357,NA10831,NA10836,NA10846,NA11881,NA11891,NA12006,NA12155,NA12275,NA12340,NA12707,NA12873,NA12875,NA17965,NA18501,NA18858,NA18860,NA18862,NA18870,NA18916,NA18930,NA18947,NA18987,NA19001,NA19035,NA19054,NA19056,NA19063,NA19078,NA19083,NA19084,NA19087,NA19099,NA19101,NA19103,NA19113,NA19115,NA19118,NA19121,NA19123,NA19127,NA19130,NA19138,NA19146,NA19174,NA19184,NA19193,NA19194,NA19198,NA19201,NA19202,NA19214,NA19223,NA19224,NA19225,NA19247,NA19249,NA19311,NA19315,NA19334,NA19350,NA19360,NA19375,NA19376,NA19377,NA19381,NA19390,NA19394,NA19404,NA19428,NA19429,NA19431,NA19434,NA19440,NA19444,NA19445,NA19446,NA19448,NA19449,NA19462,NA19661,NA19685,NA19686,NA19714,NA19726,NA19756,NA19774,NA19788,NA19790,NA19835,NA19836,NA19900,NA19902,NA20126,NA20276,NA20281,NA20284,NA20287,NA20290,NA20294,NA20295,NA20317,NA20332,NA20359,NA20363,NA20520,NA20539,NA20770,NA20801,NA20803,NA20845,NA20852,NA20859,NA20873,NA20882,NA20883,NA20885,NA20887,NA20892,NA20900,NA20902,NA21094,NA21097,NA21100,NA21102,NA21111,NA21141,NA21301,NA21344,NA21355,NA21359,NA21360,NA21366,NA21370,NA21381,NA21391,NA21403,NA21405,NA21414,NA21417,NA21418,NA21423,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21473,NA21475,NA21477,NA21488,NA21493,NA21494,NA21510,NA21522,NA21526,NA21529,NA21574,NA21576,NA21580,NA21600,NA21601,NA21608,NA21613,NA21614,NA21631,NA21647,NA21648,NA21650,NA21678,NA21686,NA21716,NA21717,NA21718,NA21722,NA21723,NA21741,NA21776,NA21784 esv22019 6 74765644 74773575 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15346 S 451 6 0 "" NA12006,NA18523,NA18858,NA18916,NA19099,NA19225 nsv823738 6 74765887 74773521 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427003 S 31 1 0 "" NA18947 nsv442987 6 74766429 74773741 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514371 6 74766672 74773376 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627822 S 1414 1 0 "" nsv886161 6 74822208 74857249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503136 S 6533 1 0 "" SP51489 nsv511354 6 74885402 74907773 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625833 S 1 0 1 "" 1 nsv511897 6 74888357 74890331 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624431 S 1 0 1 "" 1 nsv820765 6 74889164 74890277 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420592 S 1 0 1 "" NA10851 nsv823739 6 74889164 74890277 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438879,nssv1435129 M 31 0 2 "" NA18942,NA18973 nsv819110 6 74889213 74890606 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419253 S 2 1 0 "" AK1 esv24454 6 74889220 74890171 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14975 S 451 35 0 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 nsv511898 6 74921490 74923753 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624432 S 1 0 1 "" 1 esv1972118 6 74921973 74923511 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892637 S 1 0 1 "" NA18507 esv5022 6 74922136 74923396 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27463 S 1 0 1 Single Asian sample YH "" YH esv1005123 6 74922159 74923309 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583697 S 3 0 1 "" HuRef esv1017873 6 74922168 74923319 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676484 S 2 0 1 "" HuRef esv7146 6 74922169 74923338 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29587 S 1 0 1 "" SJK esv2476999 6 74924101 74926631 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217867 S 1 0 1 "" NA18507 esv2110265 6 74924945 74926452 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975877 S 1 0 1 "" NA18507 esv1591092 6 74929293 74929293 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296972 S 2 1 0 "" HuRef nsv823740 6 74931408 74931886 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436670 S 31 0 1 "" NA18542 nsv886162 6 74960517 75062890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567670 S 6533 0 1 "" IS31137 esv2558393 6 74961885 74963413 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273537 S 1 0 1 "" NA18507 dgv6901n71 6 75001180 75081033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886163,nsv886164 M 6533 0 2 "" IS31145,IS31187 dgv1967e1 6 75018716 75218942 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2642,esv571 M 271 0 0 "" NA18967 esv32636 6 75029906 75030171 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99207 S 51 1 0 "" 22275 esv33511 6 75031290 75031470 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96960 S 51 1 0 "" 21817 nsv7920 6 75036237 75042808 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16062 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv886165 6 75037845 75127462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517586 S 6533 0 1 "" SP57324 esv32623 6 75039602 75042279 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99587,essv99192 M 51 2 0 "" 22217,22275 nsv7921 6 75086537 75088589 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14365 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 esv35015 6 75088057 75210863 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987733,essv6987734,essv6980186,essv6980185 M 771 0 1 "" NA18967 essv3259 6 75117667 75218942 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18967 nsv886166 6 75138787 75212023 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555843 S 6533 1 0 "" MS21649 nsv510038 6 75154434 75160434 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624007,nssv618239,nssv621286 M 4 0 3 "" CHM,NA15510,NA18994 dgv6902n71 6 75159345 75232169 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886167,nsv886168 M 6533 0 2 "" IS35083,MS24073 esv8794 6 75197645 75197719 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31235 S 1 1 0 "" SJK esv269647 6 75217790 75220786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501177,essv2509124,essv2506663 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18522,NA19108 esv272069 6 75218834 75218919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516993,essv2518524,essv2516538,essv2519402 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA12287,NA12814 nsv520746 6 75268266 75748534 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697587 S 2026 1 0 "" nsv830694 6 75302203 75503002 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445449 S 95 1 0 "" esv6713 6 75360614 75361065 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29154 S 1 0 1 "" SJK esv2482249 6 75370752 75372135 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241927 S 1 0 1 "" NA18507 nsv823741 6 75387237 75387679 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426714,nssv1432099,nssv1429109,nssv1438196 M 31 4 0 "" AK12,AK20,AK6,NA18951 nsv507340 6 75396250 75402250 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621844 S 4 1 0 "" NA10860 esv271486 6 75417383 75417575 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511885,essv2509688,essv2496352,essv2505242,essv2509258 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18508,NA18510,NA18853,NA18909 nsv830695 6 75466376 75639835 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445450 S 95 1 0 "" nsv886169 6 75489581 75667442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598432 S 6533 0 1 "" IS41113 nsv886170 6 75534691 75634079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552843 S 6533 0 1 "" MS19634 dgv1968e1 6 75582459 75681971 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv621,essv5075,essv4104,esv1370 M 271 0 0 "" NA18529,NA18570,NA18998 dgv1969e1 6 75582647 75647255 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2704,essv6 M 271 0 0 "" NA18944,NA18945 dgv6903n71 6 75584576 75634079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886171,nsv886174,nsv886176 M 6533 0 3 "" IS31369,IS33605,IS37059 dgv6904n71 6 75584576 75667442 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886173,nsv886177,nsv886172 M 6533 0 6 "" IS31074,IS32615,IS35229,IS39718,IS39900,MS11669 dgv6905n71 6 75593660 75667442 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv886175,nsv886178 M 6533 3 15 "" IS30522,IS30925,IS31728,IS31729,IS32518,IS32653,IS35083,IS35145,IS35189,IS35771,IS36219,IS37103,IS37999,IS39011,IS39373,IS41068,MS12266,MS18978 nsv830696 6 75595036 75791329 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445452 S 95 0 1 "" dgv6906n71 6 75608437 75667442 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886180,nsv886179 M 6533 0 6 "" IS30539,IS30899,IS31233,IS31587,IS35743,MS14737 nsv7922 6 75615505 75617070 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14387,nssv14999 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA19173 nsv5352 6 75669359 75701604 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv560 S 9 1 0 "" NA19240 nsv7923 6 75676717 75678148 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17174 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv436512 6 75772358 75782735 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466298 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv28614 6 75775584 75779360 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12531,esv12306 M 451 0 2 "" NA18505,NA18916 nsv830697 6 75819815 75971749 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445454,nssv1445453 M 95 1 1 COL12A1 esv269395 6 75836183 75836268 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513709 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv886181 6 75909208 75976204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553710 S 6533 0 1 COL12A1 MS20251 esv2448573 6 76013912 76015717 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345655 S 1 0 1 "" NA18507 esv1957437 6 76014308 76015031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745812 S 1 0 1 "" NA18507 esv3873 6 76014440 76014891 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26314 S 1 0 1 Single Asian sample YH "" YH esv1417873 6 76014519 76014838 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015242 S 2 0 1 "" HuRef nsv349742 6 76014520 76014838 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368320 M 24 "" esv9189 6 76014521 76014835 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31630 S 1 0 1 "" SJK nsv830698 6 76025530 76172312 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445455 S 95 1 0 FILIP1,LOC100506804,TMEM30A esv1350235 6 76073248 76073298 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047527 S 2 0 1 "" HuRef esv1005015 6 76073270 76073319 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583339 S 3 0 1 "" HuRef nsv886182 6 76152950 76250727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527069 S 6533 1 0 FILIP1 SP58108 esv21616 6 76212196 76217606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12508 S 451 0 1 FILIP1 NA12414 nsv348407 6 76249550 76252434 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv366985 M 24 FILIP1 nsv5353 6 76262682 76275036 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8264 S 9 0 1 "" NA12156 nsv823743 6 76280326 76287871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432100 S 31 0 1 "" AK20 nsv886183 6 76377566 76456259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514512 S 6533 0 1 SENP6 SP56007 dgv6907n71 6 76377566 76554829 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886186,nsv886185,nsv886184 M 6533 0 3 MYO6,SENP6 IS30976,IS40819,SP57367 nsv522814 6 76432041 76462420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698460 S 2026 0 1 SENP6 dgv6908n71 6 76465670 76525835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886187,nsv886188 M 6533 0 3 MYO6,SENP6 SP55694,SP56132,SP57379 nsv823744 6 76501952 76503828 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427015 S 31 0 1 "" NA18947 esv2618363 6 76635063 76636640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183232 S 1 0 1 MYO6 NA18507 esv1561860 6 76690992 76691044 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689584 S 2 0 1 IMPG1 HuRef esv270048 6 76694213 76699053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503304,essv2497290,essv2497241,essv2500045,essv2499886,essv2508706,essv2499304,essv2512842,essv2504929,essv2497959,essv2502421,essv2512321,essv2502731 M 157 13 0 Samples from several populations that are part of the HapMap project. IMPG1 NA18542,NA18545,NA18552,NA18558,NA18562,NA18592,NA18605,NA18609,NA18942,NA18945,NA18948,NA18949,NA18965 nsv5355 6 76723465 76755004 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3449 S 9 1 0 IMPG1 NA12878 esv271179 6 76765676 76765761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519158 S 157 1 0 Samples from several populations that are part of the HapMap project. IMPG1 NA19141 nsv518093 6 76780460 76793716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695505 S 2026 0 1 IMPG1 esv1934970 6 76803035 76803503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975064 S 1 0 1 IMPG1 NA18507 esv5072 6 76803165 76803386 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27513 S 1 0 1 Single Asian sample YH IMPG1 YH esv1003005 6 76803225 76803303 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583381 S 3 0 1 IMPG1 HuRef esv1097945 6 76803225 76803304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098868 S 2 0 1 IMPG1 HuRef nsv5356 6 76907082 76940974 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8265 S 9 1 0 "" NA12156 nsv886189 6 76965256 77010227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578635 S 6533 0 1 "" IS34825 nsv528612 6 76981958 76983174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705238 S 2026 0 1 "" nsv886190 6 77035023 77078698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600169,nssv1547992 M 6533 0 2 "" IS41853,MS17674 dgv6909n71 6 77035023 77109051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886194,nsv886191 M 6533 0 4 "" IS35788,MS10441,MS24873,SP50101 esv1563732 6 77038514 77038514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3798238 S 2 1 0 "" HuRef dgv6910n71 6 77056233 77088077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886193,nsv886192 M 6533 0 6 "" IS31563,IS41831,MS24202,MS24373,SP81355,SP81364 nsv886195 6 77056233 77153728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572295 S 6533 1 0 "" IS32918 nsv5357 6 77067481 77091010 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4923 S 9 0 1 "" NA19129 nsv437511 6 77071229 77096990 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467392 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 dgv6911n71 6 77072276 77088077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886196,nsv886202,nsv886198 M 6533 0 355 "" IS30294,IS30325,IS30389,IS30412,IS30459,IS30553,IS31022,IS31346,IS31359,IS31652,IS31763,IS31804,IS32737,IS32761,IS32777,IS32806,IS32864,IS32999,IS33030,IS33263,IS33522,IS33696,IS33724,IS33795,IS33800,IS33811,IS34083,IS34271,IS34387,IS34443,IS34627,IS34642,IS34684,IS34701,IS34772,IS35014,IS35138,IS35519,IS35523,IS35549,IS35581,IS35717,IS35954,IS36022,IS36065,IS36153,IS36196,IS36248,IS36337,IS36383,IS36450,IS36458,IS36550,IS36581,IS36681,IS36752,IS36893,IS37167,IS37337,IS37503,IS37591,IS37628,IS37713,IS37752,IS38008,IS38054,IS38055,IS38087,IS38111,IS38114,IS38152,IS38193,IS38246,IS38416,IS38466,IS38513,IS38544,IS38557,IS38604,IS38621,IS38635,IS38648,IS38804,IS39011,IS39088,IS39248,IS39272,IS39322,IS39493,IS39530,IS39627,IS39714,IS39783,IS40062,IS40098,IS40137,IS40156,IS40157,IS40239,IS40296,IS40299,IS40373,IS40382,IS40538,IS40557,IS40581,IS40588,IS40612,IS40646,IS40707,IS40738,IS40739,IS40752,IS40795,IS40818,IS40831,IS40862,IS40898,IS40925,IS40930,IS40951,IS41179,IS41317,IS41730,IS41739,IS41783,IS41837,IS41903,MS10166,MS10278,MS10575,MS10802,MS11084,MS11137,MS11159,MS11355,MS11481,MS11497,MS11722,MS11980,MS12055,MS12130,MS12539,MS12648,MS12722,MS12776,MS12787,MS12876,MS12938,MS13040,MS13050,MS13114,MS13317,MS13455,MS13703,MS14326,MS14566,MS14769,MS15066,MS15167,MS15234,MS15277,MS15628,MS15804,MS15834,MS15877,MS15926,MS16349,MS16611,MS16704,MS16965,MS17085,MS17106,MS17400,MS17534,MS17677,MS17680,MS17689,MS17869,MS17915,MS18159,MS18365,MS18436,MS18552,MS18652,MS18779,MS18789,MS18896,MS18976,MS18999,MS19093,MS19917,MS19955,MS20170,MS20200,MS20471,MS20655,MS20717,MS20747,MS20797,MS20854,MS20860,MS21117,MS21118,MS21180,MS21628,MS21780,MS21789,MS22273,MS23145,MS23705,MS23770,MS23984,MS24103,MS24141,MS24193,MS24285,MS24497,MS24940,MS24969,MS25038,MS25099,MS25330,MS25377,MS25553,MS25633,MS25690,MS25868,MS25890,MS25939,MS25941,MS25966,MS26030,SP50027,SP50058,SP50061,SP50097,SP50520,SP50660,SP50805,SP50825,SP50876,SP50882,SP50979,SP51067,SP51179,SP51235,SP51302,SP51338,SP51494,SP51499,SP52243,SP52256,SP52308,SP52579,SP52593,SP52626,SP52830,SP52851,SP52886,SP53154,SP53413,SP53441,SP53451,SP53473,SP53518,SP53625,SP53705,SP53724,SP53987,SP53999,SP54006,SP54023,SP54338,SP54455,SP54544,SP54635,SP54726,SP54832,SP54838,SP54937,SP55007,SP55028,SP55110,SP55160,SP55382,SP55405,SP55433,SP55460,SP55463,SP55500,SP55508,SP55567,SP55573,SP55597,SP55649,SP55652,SP55692,SP55715,SP55808,SP55834,SP55996,SP56004,SP56213,SP56223,SP56234,SP56347,SP56350,SP56533,SP56631,SP56726,SP56748,SP56750,SP56757,SP56843,SP56870,SP56899,SP56937,SP56957,SP56975,SP57201,SP57250,SP57268,SP57347,SP57463,SP57553,SP57665,SP57671,SP57941,SP58047,SP58091,SP58132,SP58202,SP58404,SP58450,SP80917,SP80930,SP80980,SP81010,SP81033,SP81036,SP81132,SP81141,SP81145,SP81241,SP81263,SP81265,SP81266,SP81365,SP81383,SP81507,SP81508,SP81526,SP81556,SP81574 nsv886197 6 77073066 77081385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522596,nssv1584526 M 6533 0 2 "" IS37062,SP53262 nsv517585 6 77073066 77088077 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689523,nssv654119,nssv663222,nssv654735,nssv691402,nssv682713,nssv662579,nssv662220,nssv684037,nssv690924,nssv654652,nssv659487,nssv661770,nssv659288,nssv672431,nssv661581,nssv674441,nssv674065,nssv670178,nssv693708,nssv675393,nssv687096,nssv663406,nssv679652,nssv675515 M 2026 0 25 "" nsv886200 6 77073066 77092007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508716 S 6533 0 1 "" SP54614 dgv6912n71 6 77073066 77109051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886199,nsv886203 M 6533 0 21 "" IS30204,IS30292,IS31294,IS39626,IS40521,IS41809,IS41866,IS41921,IS41937,IS41984,MS10596,MS14157,MS18948,MS20813,MS21397,MS22104,MS22705,MS23257,MS24796,SP53051,SP57958 nsv886201 6 77073066 77153728 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600841,nssv1528230,nssv1578645,nssv1578327 M 6533 0 4 "" IS34758,IS34830,IS41933,SP81161 nsv7924 6 77073369 77085808 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14395 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 dgv1052n67 6 77073394 77085842 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823746,nsv823745 M 31 0 3 "" AK12,NA18949,NA18997 nsv499675 6 77073430 77085883 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585990 S 9 0 1 "" esv24140 6 77073444 77085850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15734 S 451 0 2 "" NA15510,NA19129 esv2422107 6 77073620 77084501 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131675,essv5066010,essv5042607,essv5127352,essv5130998,essv5147099,essv5124141,essv5049054,essv5021711,essv5036919,essv5116516,essv5106771,essv5098731,essv5148044,essv5160606,essv5141555,essv5101392,essv5077096,essv5033625,essv5075495,essv5028522,essv5122431,essv5070015,essv5019776,essv5084819,essv5079872,essv5029930,essv5076141,essv5157140,essv5095019,essv5005135,essv5077100,essv5090047,essv5085971,essv5035303,essv5050138,essv5050964,essv5098328,essv5070289,essv5140267,essv5119307,essv5117257,essv5117829,essv5085629,essv5146647,essv5080693,essv5157585,essv5058442,essv5042290,essv5041731,essv5072430,essv5075492,essv5146809,essv5045153,essv5025747,essv5117315,essv5040428,essv5057275,essv5158862,essv5016625,essv5010132,essv5123056,essv5005800,essv5085661,essv5158052,essv5152888,essv5016391,essv5087668,essv5095863,essv5100039 M 1184 0 70 "" NA17962,NA17970,NA18117,NA18118,NA18120,NA18140,NA18144,NA18158,NA18524,NA18532,NA18557,NA18571,NA18594,NA18610,NA18616,NA18641,NA18647,NA18696,NA18740,NA18747,NA18748,NA18944,NA18945,NA18948,NA18949,NA18953,NA18959,NA18964,NA18978,NA18979,NA18980,NA18991,NA18997,NA19000,NA19002,NA19059,NA19060,NA19063,NA19068,NA19083,NA19084,NA19128,NA19129,NA19224,NA19226,NA19429,NA19661,NA19676,NA19720,NA19723,NA19724,NA19726,NA19756,NA19757,NA19760,NA19783,NA20861,NA20872,NA20881,NA20894,NA20895,NA20897,NA20901,NA20907,NA21086,NA21103,NA21107,NA21119,NA21390,NA21491 nsv514372 6 77073696 77082496 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627823 S 1414 0 1 "" nsv442988 6 77073713 77084327 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv58n64 6 77074879 77081385 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818429,nsv818428 M 112 0 4 "" NA18944,NA18949,NA18953,NA18978 dgv764n27 6 77074879 77081385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463158,nsv463156,nsv463163,nsv463162,nsv463159,nsv463160,nsv463157 M 1557 0 7 "" HGDP00702,HGDP00756,HGDP00857,HGDP00995,HGDP00999,HGDP01003,HGDP01103 nsv433235 6 77074879 77081385 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463116 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv520032 6 77074879 77109051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697187 S 2026 0 1 "" nsv437969 6 77076267 77078698 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468780,nssv468779 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19128,NA19129 nsv5358 6 77129651 77165983 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3450,nssv8266,nssv10506 M 9 0 3 "" NA12156,NA12878,NA18956 nsv823747 6 77153041 77160412 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432101,nssv1434461,nssv1432906,nssv1438880,nssv1436671,nssv1427027,nssv1424255,nssv1441109,nssv1430625,nssv1433230,nssv1426715,nssv1435131,nssv1429111,nssv1427532,nssv1440408,nssv1426607,nssv1435908,nssv1439716,nssv1438198 M 31 0 19 "" AK12,AK16,AK20,AK6,AK8,NA18537,NA18542,NA18547,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18973 nsv508413 6 77153116 77164888 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617523,nssv622551 M 4 0 2 "" CHM,NA18994 nsv820664 6 77153163 77160412 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420593 S 1 0 1 "" NA10851 nsv511314 6 77153728 77157181 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625388 S 1 0 1 "" 1 esv2465369 6 77153769 77160195 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249935 S 1 0 1 "" NA18507 nsv435833 6 77153808 77159909 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466299 S 2 0 1 "" NA15510 esv2048669 6 77154019 77159533 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619817 S 1 0 1 "" NA18507 nsv511899 6 77154060 77159889 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624434 S 1 0 1 "" 1 esv1008946 6 77154117 77159804 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564981 S 3 0 1 "" HuRef esv26129 6 77154212 77160412 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11121,esv20841 M 451 18 9 "" NA07037,NA07045,NA11931,NA11995,NA12004,NA12006,NA12239,NA12414,NA12489,NA12749,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19225,NA19240 esv1346256 6 77154216 77159365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175380 S 2 0 1 "" HuRef dgv157e180 6 77154352 77157129 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995597,esv1010845 M 3 0 1 "" HuRef nsv823748 6 77154352 77157134 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429859,nssv1431361,nssv1440393 M 31 0 3 "" AK14,AK18,NA18564 nsv514373 6 77154696 77156920 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627824 S 1414 0 1 "" esv2634850 6 77154997 77159352 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350178 S 1 0 1 "" NA18507 esv2421346 6 77155307 77156088 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5120788,essv5069750,essv5092759,essv5087457,essv5051760,essv5088295,essv5081308,essv5108694,essv5043241,essv5111333,essv5044664,essv5026540,essv5036731,essv5037382,essv5142624,essv5069238,essv5056169,essv5060851,essv5002989,essv5076733,essv5051752,essv5095826,essv5055501,essv5059135,essv5092518,essv5144705,essv5158309,essv5128688,essv5127415,essv5010095,essv5143157,essv5053238,essv5108557,essv5116552,essv5036524,essv5047703,essv5158723,essv5020990,essv5110797,essv5073834,essv5012774,essv5051456,essv5038010,essv5098123,essv5022179,essv5136987,essv5060967,essv5059952,essv5040380,essv5113831,essv5083543,essv5150662,essv5070516,essv5057242,essv5069609,essv5074338,essv5094928,essv5049574,essv5142258,essv5154855,essv5095328,essv5159858,essv5101033,essv5110049,essv5118188,essv5041713,essv5078451,essv5080076,essv5039229,essv5109654,essv5145818,essv5040812,essv5027290,essv5068747,essv5063424,essv5128267,essv5097525,essv5063419,essv5024293,essv5135995,essv5125222,essv5045018,essv5108716,essv5089261,essv5123730,essv5076685,essv5044864,essv5049970,essv5034705,essv5136370,essv5158223,essv5107144,essv5056991,essv5145501,essv5134030,essv5101190,essv5144207,essv5151036,essv5118102,essv5107072,essv5106328,essv5157011,essv5078402,essv5045185,essv5063814,essv5130884,essv5141108,essv5081947,essv5120865,essv5137643,essv5101954,essv5088483,essv5002140,essv5140322,essv5150060,essv5050236,essv5066677,essv5035348,essv5105934,essv5127666,essv5040815,essv5056400,essv5137623,essv5152676,essv5077579,essv5043205,essv5094842,essv5015769,essv5154712,essv5056745,essv5104197,essv5159278,essv5140260,essv5060214,essv5151722,essv5023391,essv5157005,essv5036706,essv5105487,essv5094048,essv5146982,essv5050209,essv5084961,essv5044407,essv5035285,essv5138302,essv5059383,essv5050505,essv5046234,essv5070052,essv5006411,essv5126387,essv5120192,essv5086089,essv5093968,essv5134872,essv5104987,essv5096656,essv5127337,essv5072253,essv5160719,essv5138167,essv5033683,essv5059961,essv5141327,essv5093864,essv5148841,essv5095620,essv5068307,essv5048482,essv5042312,essv5142130,essv5023982,essv5037640,essv5064818,essv5031511,essv5107231,essv5095697,essv5097862,essv5152927,essv5024748,essv5003523,essv5081011,essv5157821,essv5092706,essv5019249,essv5072471,essv5072797,essv5072664,essv5098638,essv5087823,essv5022323,essv5114937,essv5036755,essv5097398,essv5036377,essv5091425,essv5009957,essv5150079,essv5070018,essv5139573,essv5030764,essv5076180,essv5036363,essv5123884,essv5045325,essv5043951,essv5128928,essv5054902,essv5108392,essv5136676,essv5130959,essv5107251,essv5032743,essv5079533,essv5161168,essv5060528,essv5159315,essv5090384,essv5094786,essv5093942,essv5084461,essv5115300,essv5007464,essv5094337,essv5092100,essv5111216,essv5015767,essv5026947,essv5009241,essv5070407,essv5113474,essv5042113,essv5022761,essv5022602,essv5069834,essv5028192,essv5132331,essv5131623,essv5101892,essv5033605,essv5045688,essv5020796,essv5132339,essv5002805,essv5068673,essv5062927,essv5155612,essv5104920,essv5102818,essv5019555,essv5152074,essv5114276,essv5030304,essv5104819,essv5042733,essv5082973,essv5066137,essv5120452,essv5106894,essv5096086,essv5075784,essv5151926,essv5114178,essv5077176,essv5099749,essv5110667,essv5059680,essv5128145,essv5095743,essv5152771,essv5150992,essv5131440,essv5049134,essv5035299,essv5156019,essv5117844,essv5138471,essv5002285,essv5074448,essv5104926,essv5068884,essv5140257,essv5111661,essv5067886,essv5018075,essv5071877,essv5159740,essv5102126,essv5117404,essv5085818,essv5149462,essv5038612,essv5118128,essv5018848,essv5061424,essv5151418,essv5009154,essv5153211,essv5011617,essv5155588,essv5158317,essv5070003,essv5015381,essv5089703,essv5101588,essv5106750,essv5128128,essv5125490,essv5157366,essv5133491,essv5122667,essv5058032,essv5129399,essv5063929,essv5115028,essv5158025,essv5116744,essv5071145,essv5049732,essv5039409,essv5103586,essv5078537,essv5072084,essv5046344,essv5006054,essv5094950,essv5076091,essv5039189,essv5121185,essv5019829,essv5158497,essv5153297,essv5153884,essv5090921,essv5120553,essv5108315,essv5131237,essv5106833,essv5041791,essv5005541,essv5158630,essv5053106,essv5141762,essv5028873,essv5145765,essv5048010,essv5110437,essv5078390,essv5140775,essv5161182,essv5030880,essv5099841,essv5119798,essv5010490,essv5018655,essv5143720,essv5025576,essv5030019,essv5087364,essv5021870,essv5079777,essv5054638,essv5048976,essv5160171,essv5158691,essv5103955,essv5045290,essv5031419,essv5101619,essv5159504,essv5145679,essv5160030,essv5145708,essv5137484,essv5126361,essv5092903,essv5023722,essv5100916,essv5142594,essv5122139,essv5138375,essv5126351,essv5016387,essv5027848,essv5019703,essv5117931,essv5129521,essv5051908,essv5092753,essv5017036,essv5051466,essv5069799,essv5029170,essv5122933,essv5079722,essv5022464,essv5149177,essv5063303,essv5045181,essv5056157,essv5009404,essv5079402,essv5116486,essv5033593,essv5039732,essv5090378,essv5005695,essv5124740,essv5010409,essv5072053,essv5035761,essv5063971,essv5062623,essv5111437,essv5027462,essv5121224,essv5037070,essv5089768,essv5052002,essv5156529,essv5085147,essv5016283,essv5076805,essv5028586,essv5116636,essv5150290,essv5023636,essv5079853,essv5124588,essv5039906,essv5076183,essv5121776,essv5118324,essv5128653,essv5023868,essv5074804,essv5139203,essv5087465,essv5078664,essv5023223,essv5068214,essv5068013,essv5041084,essv5150715,essv5150289,essv5093745,essv5124171,essv5009603,essv5100075,essv5007038,essv5023052,essv5095723,essv5156928,essv5126564,essv5005462,essv5151834,essv5146577,essv5072621,essv5130279,essv5072506,essv5022860,essv5121860,essv5074143,essv5003724,essv5009995,essv5153257,essv5159246,essv5014404,essv5112350,essv5048162,essv5069669,essv5116438,essv5084131,essv5078614,essv5115188,essv5149818,essv5151614,essv5157764,essv5139549,essv5149842,essv5032529,essv5147392,essv5011001,essv5062455,essv5024697,essv5141619,essv5091171,essv5080220,essv5099298,essv5043745,essv5071925,essv5157987,essv5064764,essv5028564,essv5141379,essv5140904,essv5021546,essv5046550,essv5120035,essv5156120,essv5069738,essv5037870,essv5151845,essv5140736,essv5077756,essv5049600,essv5063479,essv5126032,essv5028978,essv5016421,essv5014630,essv5005609,essv5048798,essv5105296,essv5022948,essv5152033,essv5086787,essv5080271,essv5016346,essv5096975,essv5102274,essv5119601,essv5003275,essv5047258,essv5077528,essv5065258,essv5041999,essv5097549,essv5024962,essv5104467,essv5150532,essv5075578,essv5042816,essv5149385,essv5113949,essv5119500,essv5148533,essv5126898,essv5132062,essv5053706,essv5093723,essv5093622,essv5122317,essv5037477,essv5066283,essv5117102,essv5019667,essv5022441,essv5120067,essv5103944,essv5109192,essv5019425,essv5131530,essv5151111,essv5036667,essv5035966,essv5072725,essv5091523,essv5091822,essv5066337,essv5128254,essv5133545,essv5059061,essv5151682,essv5057775,essv5062737,essv5116204,essv5082320,essv5079627,essv5050547,essv5094673,essv5095063,essv5105212,essv5070812,essv5015599,essv5067409,essv5115716,essv5025532,essv5160991,essv5047804,essv5062186,essv5102501,essv5132309,essv5128285,essv5119720,essv5085447,essv5009010,essv5011094,essv5071154,essv5098183,essv5097034,essv5127782,essv5074972,essv5128815,essv5076810,essv5023047,essv5112250,essv5116611,essv5070561,essv5091139,essv5144229,essv5091732,essv5031964,essv5067037,essv5126571,essv5065520,essv5008340,essv5027702,essv5157964,essv5053883,essv5082504,essv5135062,essv5154072,essv5027767,essv5146348,essv5020688,essv5133437,essv5073333,essv5038749,essv5114625,essv5018671,essv5027623,essv5140289,essv5135332,essv5121021,essv5108251,essv5081184,essv5148306,essv5025303,essv5072908,essv5144557,essv5034082,essv5154822,essv5064351,essv5051685,essv5128223,essv5123025,essv5005766,essv5025122,essv5034630,essv5063019,essv5041724,essv5079435,essv5134593,essv5026839,essv5120968,essv5125848,essv5079437,essv5059793,essv5143248,essv5117759,essv5131266,essv5094782,essv5142638,essv5024016,essv5126107,essv5121479,essv5025317,essv5006709,essv5093604,essv5029653,essv5053135,essv5081725,essv5140652,essv5084212,essv5046221,essv5109600,essv5028927,essv5069148,essv5078363,essv5027407,essv5036162,essv5022438,essv5052930,essv5116825,essv5046442,essv5063891,essv5047001,essv5116816 M 1184 0 680 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07045,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12751,NA12753,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12829,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA17965,NA17967,NA17968,NA17969,NA17970,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17982,NA17983,NA17986,NA17988,NA17989,NA17990,NA17993,NA17996,NA17998,NA17999,NA18101,NA18102,NA18106,NA18108,NA18109,NA18114,NA18118,NA18124,NA18125,NA18127,NA18128,NA18131,NA18134,NA18136,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18150,NA18151,NA18152,NA18153,NA18157,NA18158,NA18159,NA18162,NA18506,NA18507,NA18529,NA18534,NA18537,NA18542,NA18543,NA18545,NA18546,NA18548,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18633,NA18634,NA18636,NA18637,NA18638,NA18640,NA18642,NA18643,NA18645,NA18670,NA18674,NA18682,NA18685,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18855,NA18857,NA18859,NA18860,NA18939,NA18942,NA18943,NA18945,NA18946,NA18947,NA18948,NA18951,NA18952,NA18953,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18966,NA18967,NA18968,NA18969,NA18971,NA18972,NA18973,NA18974,NA18976,NA18980,NA18981,NA18987,NA18994,NA18995,NA19000,NA19001,NA19005,NA19007,NA19009,NA19010,NA19027,NA19038,NA19044,NA19046,NA19057,NA19058,NA19059,NA19062,NA19064,NA19065,NA19066,NA19067,NA19068,NA19072,NA19074,NA19075,NA19076,NA19078,NA19081,NA19083,NA19086,NA19087,NA19088,NA19099,NA19101,NA19103,NA19114,NA19130,NA19132,NA19138,NA19139,NA19147,NA19152,NA19154,NA19176,NA19178,NA19180,NA19181,NA19185,NA19190,NA19191,NA19192,NA19200,NA19201,NA19202,NA19236,NA19256,NA19311,NA19359,NA19374,NA19377,NA19380,NA19381,NA19382,NA19393,NA19394,NA19396,NA19397,NA19398,NA19467,NA19650,NA19651,NA19654,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19664,NA19665,NA19670,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19702,NA19708,NA19711,NA19716,NA19718,NA19719,NA19721,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19759,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19819,NA19900,NA19902,NA19904,NA19909,NA19916,NA19918,NA19919,NA19921,NA20126,NA20279,NA20282,NA20284,NA20288,NA20292,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20336,NA20347,NA20349,NA20350,NA20359,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20785,NA20790,NA20792,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20805,NA20806,NA20807,NA20808,NA20809,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20875,NA20876,NA20877,NA20879,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20903,NA20904,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21097,NA21098,NA21099,NA21100,NA21101,NA21104,NA21105,NA21106,NA21108,NA21109,NA21111,NA21115,NA21116,NA21117,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21301,NA21302,NA21311,NA21312,NA21313,NA21314,NA21318,NA21320,NA21336,NA21339,NA21344,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21366,NA21368,NA21371,NA21384,NA21386,NA21388,NA21389,NA21400,NA21403,NA21408,NA21415,NA21423,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21451,NA21476,NA21491,NA21493,NA21494,NA21509,NA21513,NA21519,NA21520,NA21521,NA21522,NA21529,NA21574,NA21575,NA21578,NA21597,NA21599,NA21601,NA21614,NA21615,NA21632,NA21635,NA21678,NA21682,NA21685,NA21719,NA21733,NA21776,NA21826 nsv886204 6 77159914 77265535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578747 S 6533 0 1 "" IS34896 nsv886205 6 77159914 77322907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544417 S 6533 1 0 "" MS16337 nsv830699 6 77168577 77347942 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445459,nssv1445458,nssv1445463,nssv1445457,nssv1445460,nssv1445456,nssv1445461 M 95 5 2 "" dgv6913n71 6 77186887 77265535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886209,nsv886206 M 6533 0 2 "" MS11836,MS26017 dgv6914n71 6 77186887 77374402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886208,nsv886207 M 6533 0 2 "" IS38630,MS20753 dgv6915n71 6 77248982 77396867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886212,nsv886210,nsv886211,nsv886213 M 6533 0 4 "" IS38251,IS41774,SP55021,SP56758 nsv830700 6 77302756 77438957 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445464 S 95 1 0 "" nsv886214 6 77303723 77374402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534127 S 6533 0 1 "" MS11467 esv2223174 6 77323055 77323486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762805 S 1 0 1 "" NA18507 esv1405914 6 77323246 77323339 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148628 S 2 0 1 "" HuRef nsv886215 6 77332317 77439714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567198 S 6533 0 1 "" IS31046 esv2520305 6 77336450 77337842 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354230 S 1 0 1 "" NA18507 nsv517659 6 77357716 77379207 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684428,nssv654788,nssv664190,nssv692922,nssv691339,nssv652731,nssv659003,nssv665699 M 2026 3 5 "" nsv526827 6 77372507 77396867 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703184 S 2026 0 1 "" nsv463165 6 77374402 77379207 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539190 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00137 esv271870 6 77414475 77414814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514605,essv2514743,essv2517708,essv2519093,essv2518289,essv2519379 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12234,NA12878,NA19141,NA19240 esv272852 6 77414475 77414814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581429,essv2581238 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv267406 6 77436611 77438508 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508050,essv2512235,essv2496721,essv2504198,essv2502971,essv2496569,essv2509026,essv2513016,essv2507646,essv2505216,essv2500885,essv2505914,essv2507388,essv2497940,essv2495222,essv2501414,essv2504881,essv2499194,essv2510911,essv2509541,essv2498803,essv2496985,essv2493882,essv2499775,essv2502059 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12155,NA18498,NA18505,NA18507,NA18510,NA18522,NA18547,NA18576,NA18853,NA18856,NA18861,NA18912,NA18945,NA18964,NA19093,NA19099,NA19114,NA19116,NA19129,NA19138,NA19190,NA19210,NA19225,NA19257 dgv6916n71 6 77471874 77498434 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886216,nsv886221 M 6533 0 6 "" MS14256,MS19420,MS21820,MS22754,MS23868,MS26137 dgv6917n71 6 77471874 77572235 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886218,nsv886219,nsv886217,nsv886220 M 6533 4 0 "" SP50834,SP50998,SP80947,SP81454 dgv1970e1 6 77474806 77509523 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21598,essv7499,essv3923 M 271 0 0 "" NA12155,NA18561,NA18970 dgv1971e1 6 77474806 77533382 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19838,esv1404,essv18914 M 271 0 0 "" NA12234,NA12717 nsv5359 6 77485023 77525871 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9692 S 9 0 1 "" NA18507 esv1001714 6 77492563 77518357 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563541 S 3 0 1 "" HuRef nsv511321 6 77493429 77506058 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625465 S 1 0 1 "" 1 nsv7926 6 77493568 77517692 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14565,nssv17204,nssv16543,nssv14455,nssv15136,nssv14546,nssv17310,nssv13780,nssv15669,nssv16581,nssv14390,nssv14274,nssv16617,nssv13451,nssv14928,nssv13489,nssv14447,nssv14432,nssv14345,nssv15571,nssv16122,nssv14617,nssv16913,nssv14062,nssv15028 M 31 23 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA11830,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 esv2630920 6 77493597 77518315 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392123 S 1 0 1 "" NA18507 nsv511900 6 77493684 77517163 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624435 S 1 0 1 "" 1 nsv819255 6 77494973 77517840 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418688 S 2 1 0 "" AK1 nsv820506 6 77495747 77517681 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420594 S 1 0 1 "" NA10851 esv28704 6 77495977 77517068 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15974,esv10050,esv19997 M 451 28 3 "" NA06985,NA11894,NA11931,NA11993,NA12044,NA12156,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv158e180 6 77496272 77512163 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999705,esv1003813 M 3 0 1 "" HuRef nsv514374 6 77496480 77509040 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627826 S 1414 0 1 "" esv32939 6 77496501 77510012 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101579,essv98675,essv97566,essv101228,essv96903,essv95699,essv95552,essv94622,essv93622,essv93758,essv96176,essv97262,essv97714,essv100354,essv98354,essv96366,essv94300 M 51 0 16 "" 21603,21606,21616,21618,21817,21841,21847,21932,21972,22007,22075,22278,22300,22352,22371,22394 dgv1972e1 6 77496587 77509523 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10183,essv24205,essv23276,essv17867,essv25156,essv20530,essv19746,essv23286,essv16386,essv22732,essv21580,essv24954,essv19110,essv12110,essv9296,essv20697,essv19884,essv24326,essv11471,essv25187,essv22010,essv24351,essv19068,essv20551,essv24189,essv20501,essv19036,essv24631,essv18577,essv22285,essv19383 M 271 0 0 "" NA07019,NA07034,NA07056,NA07345,NA10839,NA10846,NA10851,NA10857,NA10859,NA11830,NA11839,NA11840,NA11881,NA11882,NA11995,NA12006,NA12044,NA12144,NA12146,NA12239,NA12707,NA12716,NA12762,NA12802,NA12815,NA12874,NA18516,NA18852,NA18856,NA19172,NA19173 esv2421906 6 77496587 77509523 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5094816,essv5099207,essv5070832,essv5069320,essv5137320,essv5020598,essv5147992,essv5038956,essv5078744,essv5040818,essv5081634,essv5097281,essv5157536,essv5126048,essv5026542,essv5022674,essv5063320,essv5014208,essv5007353,essv5066834,essv5029678,essv5132522,essv5006395,essv5075069,essv5015106,essv5120577,essv5054561,essv5028883,essv5148139,essv5036991,essv5106382,essv5096041,essv5105305,essv5027467,essv5146135,essv5032278,essv5085957,essv5115097,essv5085258,essv5148764,essv5119692,essv5057273,essv5091190,essv5048531,essv5139314,essv5037933,essv5160558,essv5071776,essv5122488,essv5067327,essv5098647,essv5160584,essv5026622,essv5063387,essv5134317,essv5098106,essv5123758,essv5076325,essv5047975,essv5085592,essv5154888,essv5067708,essv5100311,essv5080233,essv5059592,essv5040408,essv5080844,essv5080659,essv5143519,essv5036052,essv5077015,essv5062320,essv5068754,essv5140065,essv5052109,essv5032637,essv5079119,essv5071811,essv5087812,essv5121284,essv5030673,essv5103384,essv5104741,essv5092957,essv5096662,essv5061151,essv5117110,essv5137244,essv5051933,essv5030103,essv5133312,essv5084957,essv5095319,essv5106187,essv5142832,essv5103880,essv5013932,essv5064908,essv5112615,essv5094986,essv5074131,essv5123765,essv5098393,essv5061699,essv5137035,essv5096133,essv5011319,essv5150062,essv5028405,essv5130866,essv5011769,essv5118268,essv5017912,essv5087825,essv5131172,essv5076025,essv5102517,essv5125700,essv5032384,essv5047560,essv5131983,essv5023700,essv5063845,essv5147233,essv5133350,essv5157750,essv5067761,essv5160042,essv5134916,essv5007811,essv5069692,essv5094525,essv5078868,essv5094062,essv5028437,essv5107587,essv5066321,essv5087035,essv5014147,essv5013499,essv5020878,essv5077240,essv5036114,essv5074225,essv5002840,essv5109491,essv5071403,essv5013698,essv5038379,essv5065290,essv5093748,essv5014817,essv5093637,essv5089936,essv5017276,essv5108161,essv5160331,essv5043259,essv5059409,essv5110653,essv5019868,essv5084518,essv5138560,essv5120014,essv5055233,essv5027701,essv5074904,essv5129699,essv5142776,essv5073164,essv5100699,essv5081404,essv5069168,essv5028807,essv5084985,essv5023944,essv5023154,essv5026505,essv5043639,essv5031943,essv5009287,essv5097478,essv5154024,essv5060352,essv5041044,essv5137228,essv5052211,essv5154893,essv5131548,essv5099432,essv5025365,essv5080851,essv5056607,essv5031218,essv5060730,essv5159323,essv5093058,essv5043133,essv5048842,essv5006609,essv5099431,essv5051682,essv5035895,essv5134130,essv5096620,essv5107530,essv5019180,essv5080654,essv5043536,essv5141817,essv5015205,essv5130057,essv5109572,essv5126553,essv5148222,essv5151640,essv5119857,essv5129880,essv5027007,essv5089956,essv5072959,essv5063408,essv5121743,essv5132022,essv5107212,essv5106281,essv5077586,essv5046444,essv5002367,essv5022664,essv5158310,essv5124170,essv5087762,essv5097788,essv5061312,essv5018908,essv5080488,essv5097512,essv5075723,essv5086493,essv5018926,essv5124444,essv5134907,essv5053921,essv5046150,essv5036570,essv5078103,essv5067130,essv5099476,essv5076418,essv5160134,essv5074863,essv5029057,essv5022347,essv5092637,essv5064158,essv5057040,essv5093985,essv5124928,essv5065063,essv5137834,essv5037427,essv5143581 M 1184 0 263 "" NA06986,NA06989,NA06994,NA06997,NA07014,NA07031,NA07037,NA07045,NA07051,NA07056,NA07345,NA07348,NA10836,NA10837,NA10839,NA10843,NA10846,NA10854,NA10856,NA10859,NA10863,NA11830,NA11839,NA11840,NA11881,NA11882,NA11891,NA11892,NA11920,NA11930,NA11995,NA12006,NA12044,NA12056,NA12144,NA12146,NA12155,NA12234,NA12239,NA12272,NA12273,NA12282,NA12286,NA12287,NA12336,NA12341,NA12343,NA12375,NA12376,NA12399,NA12413,NA12489,NA12707,NA12716,NA12739,NA12748,NA12762,NA12777,NA12778,NA12802,NA12814,NA12815,NA12817,NA12827,NA12828,NA12865,NA12874,NA12877,NA12890,NA17970,NA17998,NA18101,NA18156,NA18160,NA18486,NA18488,NA18499,NA18507,NA18516,NA18545,NA18557,NA18561,NA18702,NA18852,NA18854,NA18862,NA18863,NA18870,NA18909,NA18970,NA19096,NA19097,NA19098,NA19143,NA19159,NA19160,NA19172,NA19173,NA19175,NA19176,NA19182,NA19189,NA19191,NA19198,NA19213,NA19247,NA19249,NA19257,NA19258,NA19314,NA19317,NA19328,NA19379,NA19403,NA19664,NA19669,NA19676,NA19677,NA19682,NA19684,NA19686,NA19700,NA19711,NA19722,NA19724,NA19749,NA19750,NA19751,NA19773,NA19774,NA19775,NA19777,NA19778,NA19789,NA19790,NA19794,NA19796,NA19818,NA19828,NA19908,NA19919,NA20126,NA20128,NA20279,NA20282,NA20284,NA20301,NA20302,NA20335,NA20344,NA20356,NA20364,NA20510,NA20512,NA20515,NA20516,NA20517,NA20520,NA20525,NA20528,NA20529,NA20530,NA20534,NA20539,NA20540,NA20541,NA20542,NA20582,NA20588,NA20753,NA20758,NA20759,NA20760,NA20765,NA20766,NA20768,NA20770,NA20772,NA20773,NA20774,NA20783,NA20786,NA20792,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20812,NA20816,NA20828,NA20850,NA20851,NA20852,NA20854,NA20856,NA20858,NA20859,NA20873,NA20874,NA20875,NA20876,NA20879,NA20883,NA20887,NA20888,NA20889,NA20891,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20910,NA21088,NA21097,NA21101,NA21102,NA21105,NA21108,NA21109,NA21112,NA21115,NA21116,NA21117,NA21119,NA21123,NA21142,NA21295,NA21300,NA21312,NA21314,NA21339,NA21344,NA21364,NA21366,NA21367,NA21379,NA21405,NA21441,NA21485,NA21487,NA21520,NA21529,NA21574,NA21575,NA21576,NA21578,NA21600,NA21617,NA21619,NA21631,NA21635,NA21636,NA21719,NA21768,NA21784,NA21826 dgv1973e1 6 77496587 77533382 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25120,essv20993,essv13984,essv14260,essv10507,essv20459,essv8509,essv18671,essv24100,essv21617,essv25105,essv14046,essv11292,essv14803,essv24446,essv13363,essv22694,essv13964,essv6411,essv21088 M 271 0 0 "" NA06994,NA07048,NA07348,NA10854,NA10856,NA10863,NA12004,NA12056,NA12814,NA12865,NA18545,NA18854,NA18862,NA18863,NA18870,NA19098,NA19100,NA19143,NA19159,NA19160 nsv442989 6 77496588 77509522 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv830701 6 77565871 77735321 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445465 S 95 0 1 "" esv269608 6 77605309 77605644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546209,essv2526217,essv2536477,essv2522690,essv2544059,essv2556645,essv2545412,essv2531941,essv2570401,essv2521639,essv2525397,essv2550296,essv2535019,essv2520681,essv2529063,essv2564696,essv2577987,essv2559420,essv2520216,essv2564230,essv2555169,essv2537409,essv2547113,essv2557471,essv2557190,essv2552343,essv2569344,essv2536954,essv2539060,essv2561492,essv2544791,essv2523552,essv2541200,essv2524427,essv2539659,essv2519665,essv2566029,essv2530912,essv2532502,essv2572314,essv2542072,essv2551036,essv2543741,essv2556405,essv2528167,essv2562311,essv2578144,essv2573073,essv2555520,essv2531516,essv2573611,essv2543279,essv2577167,essv2572011,essv2529663,essv2526722,essv2572633,essv2549679,essv2571385,essv2574433,essv2537985,essv2554697,essv2547914,essv2563443 M 157 64 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA07347,NA10847,NA11881,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12006,NA12044,NA12144,NA12156,NA12234,NA12249,NA12716,NA12749,NA12751,NA12761,NA12776,NA12815,NA12828,NA12872,NA12878,NA12892,NA18499,NA18501,NA18502,NA18508,NA18517,NA18519,NA18523,NA18526,NA18537,NA18545,NA18555,NA18563,NA18566,NA18572,NA18573,NA18576,NA18609,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18940,NA18942,NA18945,NA18961,NA18964,NA18965,NA18970,NA18973,NA19093,NA19114,NA19143,NA19225,NA19238,NA19240 esv274623 6 77605309 77605644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581653,essv2582384,essv2583142,essv2584223,essv2584432,essv2583347 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv528107 6 77629954 77633580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704648 S 2026 0 1 "" nsv886222 6 77633774 77790969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598722 S 6533 0 1 "" IS41113 nsv886223 6 77742966 78007668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535807 S 6533 0 1 "" MS12493 esv2579576 6 77778807 77779298 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257591 S 1 1 0 "" NA18507 nsv512886 6 77779186 77780144 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625530 S 1 1 0 "" 1 esv2279843 6 77872608 77872957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661355 S 1 0 1 "" NA18507 nsv436503 6 77920602 77933011 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466300 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26319 6 77921900 77932832 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17386 S 451 0 3 "" NA18505,NA18517,NA19190 nsv516301 6 77928908 77929493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679121,nssv685497,nssv675800,nssv654579,nssv688621,nssv667411,nssv675679,nssv670053,nssv687460,nssv691037,nssv678105,nssv663504 M 2026 0 12 "" esv2423869 6 77961593 77965744 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306305 S 1 0 1 "" NA18507 esv2022111 6 77976649 77977323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499445 S 1 0 1 "" NA18507 esv9430 6 77976835 77977139 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31871 S 1 0 1 "" SJK esv1535032 6 77976839 77977150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065195 S 2 0 1 "" HuRef nsv512887 6 78036666 78037539 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625531 S 1 1 0 "" 1 esv2500943 6 78037019 78037781 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340589 S 1 1 0 "" NA18507 esv272444 6 78037318 78037403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581182 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv268278 6 78037362 78038233 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558205,essv2540706,essv2546608,essv2521099,essv2525981,essv2542431,essv2536654,essv2522961,essv2543854,essv2556500,essv2545645,essv2523380,essv2532013,essv2570718,essv2548581,essv2521773,essv2550677,essv2525420,essv2535458,essv2544433,essv2552105,essv2520448,essv2529227,essv2558629,essv2564462,essv2577681,essv2553818,essv2565458,essv2564095,essv2530800,essv2537239,essv2528543,essv2546663,essv2540133,essv2552472,essv2551860,essv2562662,essv2578544,essv2550153,essv2558789,essv2569743,essv2527359,essv2561351,essv2544925,essv2563047,essv2553072,essv2565099,essv2534581,essv2519543,essv2521993,essv2565969,essv2532875,essv2528815,essv2563585,essv2553257,essv2559335,essv2569098,essv2543594,essv2555273,essv2533699,essv2555670,essv2567015,essv2530003,essv2573843,essv2557722,essv2534312,essv2543259,essv2571983,essv2526890,essv2529513,essv2575077,essv2526706,essv2568612,essv2548057,essv2549774,essv2571367,essv2574533,essv2537990,essv2548958,essv2532963,essv2525192,essv2563354 M 157 82 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12828,NA12873,NA12878,NA12891,NA12892,NA18489,NA18502,NA18504,NA18507,NA18510,NA18511,NA18516,NA18520,NA18522,NA18523,NA18526,NA18532,NA18542,NA18558,NA18561,NA18566,NA18571,NA18572,NA18576,NA18579,NA18603,NA18605,NA18638,NA18861,NA18870,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18953,NA18959,NA18965,NA18973,NA19005,NA19093,NA19102,NA19114,NA19147,NA19210,NA19225,NA19238,NA19240 esv274252 6 78037363 78038223 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581647,essv2582359,essv2582894,essv2584316,essv2584532,essv2583817 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv270728 6 78056146 78056322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503268,essv2500662 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18571 nsv5360 6 78064469 78097750 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4925 S 9 1 0 "" NA19129 esv24975 6 78066681 78068196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18213 S 451 0 1 "" NA19108 nsv463166 6 78140690 78184093 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539191 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01312 dgv1974e1 6 78156739 78233520 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16315,essv5165 M 271 0 0 HTR1B NA18564,NA19193 dgv1975e1 6 78156739 78339761 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2434,esv92 M 271 0 0 HTR1B NA18999 esv271333 6 78244367 78244680 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504099,essv2512089,essv2498201 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA19238,NA19240 esv272420 6 78244372 78244709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580715,essv2579815 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1487702 6 78251425 78251907 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770483 S 2 0 1 "" HuRef esv271105 6 78252270 78252435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504115,essv2509802,essv2501132 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18508,NA18516 nsv886224 6 78283636 78365965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547538 S 6533 0 1 "" MS17438 nsv7927 6 78324990 78328889 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16943,nssv14304,nssv13810,nssv16611,nssv13481,nssv15698,nssv15601 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA12155,NA12802,NA12872,NA18860,NA18972,NA18975,NA19240 nsv886225 6 78325880 78434733 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552844,nssv1591710 M 6533 0 2 "" IS39011,MS19634 nsv521951 6 78334494 78417889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694113 S 2026 0 1 "" nsv515928 6 78384797 78389612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665348,nssv669912,nssv669696 M 2026 0 3 "" dgv1976e1 6 78393674 78637549 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv469,essv14052 M 271 0 0 "" NA18861 nsv818430 6 78399954 78407561 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416355,nssv1416354 M 112 0 2 "" NA18855,NA18857 esv272398 6 78420958 78421164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580381,essv2580040,essv2580656 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238 esv272050 6 78420961 78421288 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576044,essv2540746,essv2522805,essv2570994,essv2556522,essv2568123,essv2577579,essv2570494,essv2548412,essv2576721,essv2550820,essv2550404,essv2535358,essv2554046,essv2544373,essv2520285,essv2529350,essv2558601,essv2564472,essv2577873,essv2559564,essv2520029,essv2530569,essv2561898,essv2528593,essv2546719,essv2521001,essv2557536,essv2556840,essv2551930,essv2532037,essv2562695,essv2569329,essv2550134,essv2537073,essv2539063,essv2527069,essv2561413,essv2544817,essv2523613,essv2552789,essv2542802,essv2540355,essv2524532,essv2565196,essv2539822,essv2549499,essv2560106,essv2522313,essv2531099,essv2532798,essv2568013,essv2528804,essv2541856,essv2570224,essv2563912,essv2553461,essv2559346,essv2542186,essv2543509,essv2556133,essv2527866,essv2539292,essv2578422,essv2555363,essv2555541,essv2567074,essv2566508,essv2530119,essv2534226,essv2522610,essv2531320,essv2573551,essv2543071,essv2575473,essv2575304,essv2538655,essv2574583,essv2572650,essv2568477,essv2560292,essv2549807,essv2571359,essv2551388,essv2535919,essv2548887,essv2533116,essv2554702 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA11830,NA11831,NA11931,NA11993,NA11994,NA11995,NA12043,NA12044,NA12045,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12716,NA12749,NA12750,NA12751,NA12761,NA12776,NA12815,NA12873,NA12874,NA12891,NA12892,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18638,NA18856,NA18870,NA18871,NA18907,NA18912,NA18940,NA18943,NA18945,NA18947,NA18948,NA18949,NA18959,NA18960,NA18961,NA18964,NA18965,NA19099,NA19102,NA19108,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19257 esv33879 6 78440570 78496793 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99813 S 51 1 0 "" 22086 nsv5361 6 78458215 78514359 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4926,nssv9693,nssv2600 M 9 0 3 "" NA18507,NA18555,NA19129 esv269369 6 78473455 78473782 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540946,essv2542401,essv2545282,essv2521749,essv2576843,essv2535002,essv2553994,essv2558393,essv2530713,essv2562128,essv2527062,essv2563094,essv2524432,essv2539675,essv2541647,essv2528015,essv2562457,essv2533988,essv2555419,essv2548138,essv2536197,essv2547721,essv2557847 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA10851,NA11831,NA11919,NA12003,NA12144,NA12154,NA12249,NA12287,NA12750,NA12873,NA12874,NA18522,NA18532,NA18555,NA18563,NA18592,NA18907,NA18909,NA18916,NA18943,NA19210 nsv511901 6 78483112 78492815 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624436 S 1 0 1 "" 1 esv2459772 6 78483171 78492868 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205013 S 1 0 1 "" NA18507 nsv499600 6 78483638 78492271 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585991 S 9 0 1 "" nsv508414 6 78484580 78505392 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617524 S 4 0 1 "" CHM esv2617806 6 78531297 78532713 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268746 S 1 0 1 "" NA18507 esv2264169 6 78531449 78532348 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4535479 S 1 0 1 "" NA18507 nsv517110 6 78531704 78535737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653800,nssv688533 M 2026 0 2 "" nsv886226 6 78541506 78775086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553348 S 6533 0 1 "" MS19941 nsv510921 6 78549359 78579349 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621592 S 4 0 0 "" NA15510 esv272535 6 78572246 78575590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579255 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 dgv6918n71 6 78611430 78806105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886228,nsv886227 M 6533 0 2 "" IS41926,IS41964 nsv830702 6 78630417 78773876 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445466 S 95 0 1 "" dgv6919n71 6 78677136 78806105 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886229,nsv886231,nsv886230 M 6533 0 3 "" IS30311,IS34797,SP56004 nsv5362 6 78749599 78795480 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6073 S 9 0 1 "" NA12156 nsv886232 6 78781259 78849973 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546361,nssv1552664 M 6533 0 2 "" MS17164,MS19582 nsv886233 6 78810983 78967986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563374 S 6533 0 1 "" MS25976 esv273014 6 78831904 78832216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579228 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271594 6 78831910 78832236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2568221,essv2576614,essv2554073,essv2553644,essv2562137,essv2532323,essv2569606,essv2536808,essv2524382,essv2539813,essv2541682,essv2566753,essv2541976,essv2527895,essv2555190,essv2524050,essv2548117,essv2546072,essv2536137 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11995,NA12154,NA12287,NA12763,NA12874,NA18505,NA18508,NA18517,NA18555,NA18563,NA18592,NA18853,NA18856,NA18907,NA18943,NA19129,NA19210,NA19239 dgv1977e1 6 78852599 79250187 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24301,essv7037,essv10157,essv11533,essv4059,esv575,essv14496,essv10536,essv8939,essv16773,essv2520 M 271 0 0 "" NA10856,NA18612,NA18635,NA18872,NA19003,NA19130,NA19173,NA19200,NA19202,NA19240 esv269702 6 78899871 78900190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518688,essv2514796,essv2515347,essv2516508,essv2514249,essv2517719,essv2519105,essv2513836,essv2518409,essv2513574 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12045,NA12234,NA12249,NA12814,NA12874,NA12878,NA19141,NA19143,NA19240 esv273150 6 78899871 78900190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581057 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1533461 6 78899903 78899903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030971 S 2 1 0 "" HuRef nsv886234 6 78904816 79086086 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570626 S 6533 1 0 "" IS32289 nsv516597 6 78904816 79109421 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669324,nssv672396,nssv670636,nssv660023,nssv655048,nssv688754,nssv675890,nssv683790,nssv666242,nssv653490,nssv675153,nssv658615,nssv677106,nssv677706,nssv692657,nssv673148,nssv685448,nssv683454,nssv682501,nssv702020,nssv660377,nssv657958,nssv691086,nssv683487,nssv663566,nssv692269,nssv654142,nssv690463,nssv651973,nssv662030,nssv683844,nssv668114,nssv685699,nssv673195,nssv655571,nssv660109,nssv665772,nssv656106,nssv670841,nssv664340,nssv667187,nssv667129,nssv658725,nssv662972,nssv688388,nssv669223,nssv656481,nssv658034,nssv684038,nssv662722,nssv666168,nssv673386,nssv692951,nssv652584,nssv659675,nssv683062,nssv664743,nssv664049,nssv677060,nssv660695,nssv673321,nssv668601,nssv657430,nssv652880,nssv667205,nssv685428,nssv689296,nssv679653,nssv681132,nssv687505,nssv661785,nssv662257,nssv651996,nssv668962,nssv689157,nssv674285,nssv667328,nssv662751,nssv657514,nssv685019,nssv676669,nssv687551,nssv655832,nssv681880,nssv671676,nssv673933,nssv672035,nssv669287,nssv676185,nssv672459,nssv680118,nssv676563,nssv652387,nssv675530,nssv667553,nssv681612,nssv680985,nssv674010,nssv679205,nssv671200,nssv691559,nssv659387,nssv662499,nssv688300,nssv652314,nssv656597,nssv683514,nssv654893,nssv675877,nssv689817,nssv661795,nssv689833,nssv654833,nssv687165,nssv686055,nssv654193,nssv663505,nssv691463,nssv678155,nssv667220,nssv661615,nssv657694,nssv689004,nssv684746,nssv682389,nssv660256,nssv665844,nssv678636,nssv653415,nssv659641,nssv689946,nssv678797,nssv672021,nssv685886,nssv669872,nssv682424,nssv692694,nssv658057,nssv676525,nssv659457,nssv690225,nssv669348,nssv651795,nssv685652,nssv669484,nssv652970,nssv670827,nssv661849,nssv656313,nssv673834,nssv684958,nssv673073,nssv674914,nssv662547,nssv690635,nssv658420,nssv685233,nssv693020,nssv680659,nssv679670,nssv658156,nssv680279,nssv661001,nssv684942,nssv670970,nssv691275,nssv652032,nssv673061,nssv688669,nssv666057,nssv687784,nssv657643,nssv670335,nssv665910,nssv687567,nssv656441,nssv688709,nssv679286,nssv686010,nssv687795,nssv676817,nssv660743,nssv675852,nssv660500,nssv684265,nssv684512,nssv673097,nssv685621,nssv683498,nssv677799,nssv673496,nssv685716,nssv663343,nssv661550,nssv663348,nssv691428,nssv683390,nssv653065,nssv677287,nssv679179,nssv679509,nssv653710,nssv658525,nssv692195,nssv658776,nssv665599,nssv653248,nssv692336,nssv692302,nssv671068,nssv671333,nssv677161,nssv688562,nssv684110,nssv677313,nssv680473,nssv668886,nssv681040,nssv657030,nssv683546,nssv686786,nssv669312,nssv653968,nssv681788,nssv655763,nssv662392,nssv694042,nssv683753,nssv671211,nssv681413,nssv670699,nssv654595,nssv691002,nssv686029,nssv653913,nssv654973,nssv664489,nssv661027,nssv664361,nssv685405,nssv654854,nssv672117,nssv664373,nssv681587,nssv654909,nssv679365,nssv677002,nssv681026,nssv669718,nssv660723,nssv652988,nssv655738,nssv660218,nssv664904,nssv685315,nssv677267,nssv658566,nssv687623,nssv690261,nssv674066,nssv671423,nssv655637,nssv670016,nssv685591,nssv666113,nssv658181,nssv664416,nssv676434,nssv669259,nssv663683,nssv655646,nssv687744,nssv657326,nssv670397,nssv693478,nssv683311,nssv671861,nssv693318,nssv657303,nssv666602,nssv674206,nssv661525,nssv690727,nssv659907,nssv654736,nssv662438,nssv676454,nssv675355,nssv681981,nssv660066,nssv671097,nssv661113,nssv688690,nssv674647,nssv654453,nssv677970,nssv674989,nssv691837,nssv664555,nssv670032,nssv655134,nssv688075,nssv674223,nssv675285,nssv682187,nssv665277,nssv690854,nssv656814,nssv681657,nssv664094,nssv665157,nssv693555,nssv665938,nssv651707,nssv662156,nssv657728,nssv669055,nssv675098,nssv674036,nssv686987,nssv674377,nssv681843,nssv678560,nssv665881,nssv693218,nssv662061,nssv691886,nssv659374,nssv653308,nssv663053,nssv662740,nssv672956,nssv655779,nssv665827,nssv690691,nssv674131,nssv659997,nssv684926,nssv683628,nssv672688,nssv655871,nssv683570,nssv659858,nssv661641,nssv694233,nssv675550,nssv671361,nssv689737,nssv693358,nssv664883,nssv688271,nssv657878,nssv661862,nssv664636,nssv656240,nssv690315,nssv653690,nssv677396,nssv655997,nssv683111,nssv678689,nssv656267,nssv687805,nssv679987,nssv667864,nssv670598,nssv661183,nssv687731,nssv686433,nssv653752,nssv657120,nssv686938,nssv668257,nssv665251,nssv686279,nssv682053,nssv689864,nssv687899,nssv667075,nssv669139,nssv687373,nssv676477,nssv672249,nssv665785,nssv655123,nssv687355,nssv675184,nssv659511,nssv694003,nssv685916,nssv656764,nssv693141,nssv664678,nssv674442,nssv667412,nssv663033,nssv651697,nssv673858,nssv654876,nssv678605,nssv679122,nssv679569,nssv674515,nssv672386,nssv663329,nssv689634,nssv682759,nssv671011,nssv675009,nssv690665,nssv676345,nssv678764,nssv688178,nssv660677,nssv689470,nssv683476,nssv682246,nssv683200,nssv652183,nssv654233,nssv672289,nssv689805,nssv662003,nssv656080,nssv680844,nssv685800,nssv667434,nssv665603,nssv654938,nssv680589,nssv656064,nssv693156,nssv674484,nssv675611,nssv690085,nssv657625,nssv664388,nssv660913,nssv662285,nssv659760,nssv657894,nssv652746,nssv656045,nssv671972,nssv667258,nssv680492,nssv690353,nssv658479,nssv674242,nssv680805,nssv668086,nssv667779,nssv661969,nssv655486,nssv663090,nssv663062,nssv665568,nssv653266,nssv681749,nssv661373,nssv669521,nssv672007,nssv686689,nssv653186,nssv682525,nssv655797,nssv659061,nssv693270,nssv664933,nssv657245,nssv680250,nssv669441,nssv659724,nssv678930,nssv683440,nssv671380,nssv655249,nssv664996,nssv671274,nssv666484,nssv657943,nssv691589,nssv679387,nssv658809,nssv683406,nssv665654,nssv679962,nssv685130,nssv671615,nssv683730,nssv657765,nssv671433,nssv687015,nssv679786,nssv679066,nssv670456,nssv682119,nssv684429,nssv681267,nssv670192,nssv672831,nssv662517,nssv656254,nssv675710,nssv686963,nssv665677,nssv653632,nssv665183,nssv686191,nssv685544,nssv672717,nssv678718,nssv652407,nssv658582,nssv683830,nssv687183,nssv680563,nssv677562,nssv679529,nssv667039,nssv685522,nssv666980,nssv693198,nssv688873,nssv674394,nssv663529,nssv687980,nssv674882,nssv679345,nssv687876,nssv676305,nssv684013,nssv667054,nssv668836,nssv677837,nssv663433,nssv688092,nssv660459,nssv674353,nssv660573,nssv663223,nssv671756,nssv664267,nssv688585,nssv672163,nssv672786,nssv678855,nssv669781,nssv658604,nssv666222,nssv681945,nssv694025,nssv668932,nssv681146,nssv693752,nssv660481,nssv681539,nssv677953,nssv665828,nssv667607,nssv668363,nssv667270,nssv671900,nssv653168,nssv675480,nssv681011,nssv689845,nssv689653,nssv690962,nssv656554,nssv673297,nssv689687,nssv664116,nssv675270,nssv687759,nssv693841,nssv678037,nssv680606,nssv651917,nssv675821,nssv682940,nssv682855,nssv659314,nssv680415,nssv659440,nssv691952,nssv686472,nssv668823,nssv686822,nssv663905,nssv661478,nssv679814,nssv678481,nssv662091,nssv653523,nssv656927,nssv658532,nssv662113,nssv674576,nssv653472,nssv658697,nssv673737,nssv683764,nssv689547,nssv674597,nssv692322,nssv668283,nssv664438,nssv667387,nssv684156,nssv680024,nssv677629,nssv676088,nssv660404,nssv677226,nssv662666,nssv689715,nssv652327,nssv667452,nssv668442,nssv656643,nssv665060,nssv692599,nssv679097,nssv659148,nssv689206,nssv693808,nssv674320,nssv662865,nssv686796,nssv684233,nssv660964,nssv657853,nssv652148,nssv669731,nssv658269,nssv684466,nssv690503,nssv655696,nssv691685,nssv660136,nssv684844,nssv685077,nssv667009,nssv681705,nssv660419,nssv658445,nssv651684,nssv657540,nssv673130,nssv669000,nssv675913,nssv680197,nssv680924,nssv675993,nssv668337,nssv669364,nssv685931,nssv671381,nssv665676,nssv674796,nssv689367,nssv689593,nssv690903,nssv669162,nssv676625,nssv681725,nssv674939,nssv659168,nssv651794,nssv680895,nssv654085,nssv693115,nssv675424,nssv653126,nssv691759,nssv670406,nssv686751,nssv651893,nssv683680,nssv684891,nssv681858,nssv681176,nssv684738,nssv688054,nssv652828,nssv688646,nssv666504,nssv677541,nssv657463,nssv656939,nssv655176,nssv688313,nssv669856,nssv656750,nssv652784,nssv676720,nssv693616,nssv675119,nssv671817,nssv652083,nssv666058,nssv676286,nssv670620,nssv681773,nssv658861,nssv681234,nssv669652,nssv660696,nssv674664,nssv673764,nssv674758,nssv663632,nssv670895,nssv681902,nssv656130,nssv660527,nssv683983,nssv670107,nssv652910,nssv660202,nssv664093,nssv690617,nssv686390,nssv690765,nssv655101,nssv662333,nssv657706,nssv666221,nssv679029,nssv666291,nssv660234,nssv652946,nssv677105,nssv665503,nssv658338,nssv665071,nssv682526,nssv678916,nssv676900,nssv682714,nssv652107,nssv662127,nssv683175,nssv684552,nssv670811,nssv661238,nssv693044,nssv682777,nssv655846,nssv666681,nssv689926,nssv676275,nssv681673,nssv657355,nssv667760,nssv671879,nssv687769,nssv675132,nssv652517,nssv672578,nssv680328,nssv669892,nssv656680,nssv673456,nssv665976,nssv658548,nssv677429,nssv682273,nssv681348,nssv672512,nssv682646,nssv654653,nssv665737,nssv665524,nssv682142,nssv652293,nssv679766,nssv693342,nssv671031,nssv655270,nssv667233,nssv693075,nssv687273,nssv690169,nssv665241,nssv673352,nssv681570,nssv661726,nssv676203,nssv660312,nssv689275,nssv684482,nssv688978,nssv681361,nssv670744,nssv679627,nssv672971,nssv681560,nssv689405,nssv671556,nssv672147,nssv656902,nssv667667,nssv680542,nssv663175,nssv690464,nssv686627,nssv654532,nssv677378,nssv666803,nssv672539,nssv670378,nssv687112,nssv675572,nssv691717,nssv670923,nssv666139,nssv684494,nssv672851,nssv659693,nssv661573,nssv666659,nssv669412,nssv675203,nssv663739,nssv674499,nssv678976,nssv692459,nssv667852,nssv683135,nssv692823,nssv675064,nssv669763,nssv683291,nssv659230,nssv679259,nssv652698,nssv653007,nssv658629 M 2026 76 764 "" nsv5363 6 78912873 78970927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv561,nssv9429 M 9 0 2 "" NA18517,NA19240 nsv886235 6 78918527 79426691 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552561 S 6533 1 0 "" MS19489 nsv7928 6 78933465 78962007 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15631,nssv14450,nssv17234 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18517,NA18853,NA19240 esv27416 6 78936181 78956303 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15387 S 451 0 8 "" NA12489,NA18508,NA18511,NA18517,NA18523,NA19108,NA19225,NA19240 nsv514375 6 78936760 78949416 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627827 S 1414 0 0 "" esv2421726 6 78936990 78955234 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5145711,essv5124212,essv5067732,essv5039425,essv5115238,essv5116159,essv5047648,essv5068277,essv5086065,essv5126189,essv5093211,essv5120986,essv5108896,essv5125532,essv5083564,essv5038151,essv5020808,essv5067183,essv5065873,essv5056866,essv5087801,essv5051286,essv5104570,essv5100559,essv5079573,essv5113852,essv5102873,essv5040123,essv5145145,essv5015190,essv5107672,essv5138509,essv5156687,essv5075212,essv5043148,essv5092298,essv5087402,essv5139350,essv5135065,essv5021915,essv5017195,essv5064297,essv5018510,essv5025176,essv5015814,essv5118152,essv5111924,essv5077397,essv5096672,essv5110010,essv5043809,essv5112092,essv5135279,essv5052223,essv5132545,essv5083709,essv5129889,essv5059836,essv5031432,essv5113969,essv5005496,essv5115680,essv5045355,essv5129026,essv5079470,essv5124647,essv5033198,essv5115033,essv5027661,essv5079420,essv5038394,essv5003067,essv5011639,essv5113319,essv5051943,essv5105796,essv5044646,essv5159834,essv5059692,essv5015442,essv5032161,essv5149323,essv5008168,essv5129647,essv5138100,essv5149150,essv5080630,essv5059874,essv5076077,essv5074799,essv5077462,essv5110514,essv5093356,essv5003096,essv5023403,essv5015049,essv5075511,essv5007851,essv5027214,essv5076370,essv5012296,essv5065326,essv5027195,essv5065070,essv5160156,essv5091546,essv5102697,essv5139265,essv5076119,essv5049827,essv5052397,essv5002349 M 1184 0 112 "" NA18485,NA18486,NA18487,NA18489,NA18500,NA18501,NA18508,NA18509,NA18511,NA18515,NA18516,NA18517,NA18853,NA18854,NA18855,NA18857,NA18868,NA18869,NA18871,NA18912,NA18914,NA18923,NA18925,NA18933,NA18934,NA18935,NA19093,NA19094,NA19095,NA19096,NA19097,NA19101,NA19103,NA19108,NA19109,NA19122,NA19123,NA19137,NA19149,NA19175,NA19178,NA19181,NA19183,NA19189,NA19191,NA19203,NA19206,NA19207,NA19214,NA19215,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19248,NA19249,NA19308,NA19327,NA19346,NA19372,NA19379,NA19393,NA19399,NA19403,NA19428,NA19440,NA19455,NA19463,NA19472,NA19473,NA19701,NA19703,NA19705,NA19711,NA19713,NA19788,NA19914,NA19916,NA20126,NA20128,NA20129,NA20276,NA20287,NA20288,NA20297,NA20332,NA20335,NA20342,NA21297,NA21360,NA21361,NA21384,NA21386,NA21388,NA21424,NA21425,NA21494,NA21510,NA21521,NA21522,NA21596,NA21611,NA21613,NA21682,NA21685,NA21722,NA21738,NA21740,NA21768 nsv442990 6 78938170 78955234 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1978e1 6 78947195 79156482 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15121,essv3002,essv8475,essv5105,essv3860,essv10796,essv1751,essv526,essv24835,essv10217,essv21864,essv7407,essv22146,essv6157,essv667,essv18167,essv4611,essv9981,essv16127,essv22186,essv1389,essv24081,essv7544,essv16632,essv24778,essv7175,essv23416,essv15791,essv12771,essv24662,essv22873,essv7848,essv21661,essv9081,essv6746,essv8850,essv13767,essv11667,essv12551,essv5518,essv21460,essv9179,essv17795,essv14285,essv2212,essv13475,essv12337,essv19435,essv16979,essv6267,essv13851,essv85,essv22034,essv6640,essv23046,essv17283,essv5334,essv14064,essv4681,essv6696,essv417,essv11263,essv19516,essv24925,essv18323,essv7282,essv16307,essv17728,essv15620,essv21410,essv9342,essv296,essv1512,essv22750,essv1624,essv3397,essv20095,essv13560,essv23486,essv25021,essv1175,essv20575,essv2836,essv9616,essv16002,essv11923,essv8126,essv17432,essv5246,essv2657,essv155,essv2085,essv15491,essv13652,essv320 M 271 0 0 "" NA06994,NA07000,NA07019,NA07034,NA07048,NA07056,NA10831,NA10839,NA10846,NA10854,NA10857,NA10859,NA10860,NA11829,NA11839,NA11840,NA12043,NA12044,NA12057,NA12154,NA12248,NA12717,NA12740,NA12760,NA12812,NA12864,NA12872,NA18501,NA18502,NA18505,NA18508,NA18516,NA18523,NA18524,NA18529,NA18532,NA18545,NA18547,NA18558,NA18562,NA18563,NA18577,NA18592,NA18608,NA18621,NA18622,NA18623,NA18624,NA18636,NA18853,NA18854,NA18856,NA18861,NA18912,NA18942,NA18945,NA18949,NA18951,NA18952,NA18953,NA18960,NA18967,NA18968,NA18971,NA18975,NA18978,NA18980,NA18981,NA18991,NA18994,NA18997,NA18998,NA19007,NA19098,NA19099,NA19100,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19138,NA19141,NA19142,NA19144,NA19152,NA19153,NA19154,NA19160,NA19161,NA19192,NA19194,NA19204,NA19206 nsv428149 6 78947195 79156482 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450792,nssv450803,nssv450802,nssv450793,nssv450788,nssv450783,nssv450795,nssv450796,nssv450791,nssv450790,nssv450800,nssv450801,nssv450799,nssv450787,nssv450794,nssv450804,nssv450785,nssv450789,nssv450784 M 62 19 0 "" HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00473,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113 dgv1979e1 6 78947195 79250187 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18948,essv12161,essv14648,essv4652,essv20947,essv15800 M 271 0 0 "" NA12005,NA12801,NA18594,NA19093,NA19101,NA19223 nsv830704 6 78947201 79116376 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445467,nssv1445468 M 95 1 1 "" nsv510039 6 78979998 78985998 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624008 S 4 0 1 "" NA18994 nsv7929 6 78986211 78988819 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16647,nssv14485,nssv17340 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18980,NA19132,NA19221 nsv886236 6 78990819 79098352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575405 S 6533 0 1 "" IS33738 dgv1980e1 6 79001258 79084209 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18681,essv19295,essv20865,essv21576,essv23313,essv2733,essv18555,essv20469,essv21488,essv19050,essv13508,essv14222,essv18044,essv23719,essv24460,essv20494,essv19817,essv21494,essv3623 M 271 0 0 "" NA06993,NA07022,NA10830,NA10847,NA10851,NA11830,NA12003,NA12056,NA12145,NA12146,NA12249,NA12264,NA12813,NA12865,NA12874,NA18913,NA18914,NA18965,NA18966 dgv1981e1 6 79001258 79116509 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20832,essv2370,essv8540,essv10600,essv18473,essv18883,essv24208,essv23277,essv19475,essv7931,essv9305,essv19876,essv20692,essv24325,essv14031,essv11296,essv8889,essv24606,essv981,essv15195,essv20749,essv17696 M 271 0 0 "" NA07029,NA07345,NA07357,NA10835,NA10855,NA11832,NA11881,NA11882,NA12144,NA12750,NA12802,NA12875,NA18503,NA18504,NA18852,NA18862,NA18863,NA18964,NA18995,NA19171,NA19209,NA19211 nsv510902 6 79009053 79098805 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618689 S 4 0 0 "" CHM dgv6920n71 6 79011857 79099709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886237,nsv886240,nsv886254,nsv886251,nsv886252,nsv886261,nsv886265,nsv886271 M 6533 0 190 "" IS30165,IS30211,IS30221,IS30243,IS30278,IS30434,IS30589,IS30616,IS30683,IS30694,IS30824,IS30838,IS30884,IS30923,IS30934,IS31039,IS31081,IS31123,IS31142,IS31169,IS31194,IS31218,IS31282,IS31300,IS31306,IS31307,IS31401,IS31445,IS31652,IS31703,IS31768,IS31778,IS32167,IS32312,IS32538,IS32615,IS32864,IS33070,IS33129,IS33148,IS33218,IS33256,IS33419,IS33439,IS33576,IS33596,IS33675,IS33732,IS33830,IS34020,IS34124,IS34184,IS34352,IS34409,IS34484,IS34489,IS34745,IS34747,IS34856,IS34895,IS34962,IS35088,IS35229,IS35299,IS35509,IS35519,IS35572,IS35671,IS35691,IS35701,IS35763,IS35771,IS35877,IS35880,IS35924,IS36011,IS36065,IS36153,IS36195,IS36219,IS36269,IS36383,IS36681,IS36777,IS36909,IS37029,IS37421,IS37550,IS37609,IS37990,IS38093,IS38123,IS38142,IS38144,IS38170,IS38187,IS38207,IS38262,IS38333,IS38350,IS38352,IS38362,IS38367,IS38409,IS38449,IS38464,IS38486,IS38495,IS38589,IS38598,IS38602,IS38644,IS38979,IS39046,IS39354,IS39369,IS39457,IS39519,IS39672,IS39743,IS40205,IS40254,IS40310,IS40349,IS40387,IS40490,IS40571,IS40625,IS40847,IS40854,IS40989,IS41308,IS41562,IS41786,IS41826,IS41838,IS41858,IS41892,IS41944,IS41955,MS11883,MS13228,MS13383,MS15291,MS16137,MS16268,MS18077,MS18273,MS18376,MS20229,MS21458,MS21776,MS21986,MS23098,MS23109,MS23703,MS24260,MS24812,MS24970,MS25239,MS25377,MS25519,MS25730,MS25769,MS25771,MS25966,SP50074,SP50085,SP50179,SP50554,SP50927,SP50942,SP51123,SP51259,SP51489,SP54395,SP54510,SP54604,SP55108,SP55526,SP55807,SP56173,SP57205,SP57455,SP57472,SP57736,SP58325,SP81099,SP81238,SP81500 nsv5364 6 79013151 79106824 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3451 S 9 0 1 "" NA12878 nsv507341 6 79015773 79021773 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621845,nssv620346,nssv622978 M 4 3 0 "" NA10860,NA15510,NA18994 nsv470835 6 79016607 79088460 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544549,nssv544548,nssv544547,nssv544558,nssv544559,nssv544567,nssv544572,nssv544555,nssv544557,nssv544546,nssv544562,nssv544560,nssv544550,nssv544569,nssv544563,nssv544556,nssv544552,nssv544553,nssv544573,nssv544571,nssv544570,nssv544561,nssv544566,nssv544564,nssv544551,nssv544568 M 443 26 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460,HGDP00544,HGDP00571,HGDP00578,HGDP00585,HGDP00606,HGDP00609,HGDP00611,HGDP00617,HGDP00619,HGDP00621,HGDP00623,HGDP00625,HGDP00629,HGDP00631,HGDP00679,HGDP00928,HGDP00944,HGDP00986,HGDP01036,HGDP01253,HGDP01272,HGDP01275,HGDP01276,HGDP01278,HGDP01282 dgv765n27 6 79016607 79101608 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463686,nsv463221,nsv463233,nsv463211,nsv463230,nsv463242,nsv463788,nsv463787,nsv463247,nsv463864,nsv463865,nsv463789,nsv463169,nsv463212 M 1557 14 0 "" 1780854305_A,1780854556_A,1780862334_A,1780862401_A,1780862435_A,1780862480_A,1780862577_A,HGDP01356,NINDS_236,NINDS_242,NINDS_244,NINDS_255,NINDS_272,NINDS_89 dgv122n17 6 79018585 79069147 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437001,nsv437003,nsv437004 M 60 0 3 "" NA10830,NA10835,NA10838 dgv6921n71 6 79019012 79090197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886249,nsv886244,nsv886238,nsv886243,nsv886246,nsv886241,nsv886239,nsv886242,nsv886248,nsv886247 M 6533 0 47 "" IS30193,IS30340,IS31021,IS33792,IS34387,IS34523,IS34803,IS35099,IS35119,IS35141,IS35280,IS35319,IS35388,IS35431,IS35471,IS35667,IS35676,IS35770,IS35867,IS35940,IS36022,IS36241,IS36396,IS36536,IS36820,IS37687,IS37775,IS37889,IS37891,IS38179,IS38211,IS38441,IS38479,IS38521,IS39026,IS39320,IS39931,IS40029,IS40402,IS40520,IS40538,IS40942,IS41810,IS41870,MS12577,MS16423,MS18948 dgv1982e1 6 79019012 79150726 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21633,essv19713,essv13125,essv21887 M 271 0 0 "" NA06991,NA07348,NA12236,NA18859 dgv766n27 6 79019259 79088461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463197,nsv463193,nsv463209,nsv463237,nsv463182,nsv463179,nsv463189,nsv463192,nsv463188,nsv463220,nsv463204,nsv463207,nsv463177,nsv463229,nsv463200,nsv463215,nsv463218,nsv463190,nsv463194,nsv463183,nsv463199,nsv463186,nsv463222,nsv463203,nsv463231,nsv463174,nsv463236,nsv463198,nsv463227,nsv463170,nsv463171,nsv463238,nsv463196,nsv463187,nsv463175,nsv463234,nsv463205,nsv463208,nsv463180,nsv463213,nsv463232,nsv463225,nsv463223,nsv463201,nsv463214,nsv463226,nsv463202,nsv463191,nsv463224,nsv463181,nsv463235,nsv463176,nsv463185,nsv463216,nsv463219,nsv463210 M 1557 0 56 "" 1780846029_A,1780854206_A,1780854325_A,1780854326_A,1780854338_A,1780854392_A,1780854530_A,1780854537_A,1780862014_A,1780862015_A,1780862077_A,1780862094_A,1780862111_A,1780862160_A,1780862165_A,1780862207_A,1780862300_A,1780862528_A,1780862530_A,1782681110_A,1782681169_A,1782681287_A,1782681495_A,1788485381_A,1798860306_A,1798860443_A,HGDP00017,HGDP00049,HGDP00103,HGDP00407,HGDP00560,HGDP00586,HGDP00640,HGDP00642,HGDP00643,HGDP00666,HGDP00749,HGDP00804,HGDP00837,HGDP00885,HGDP00932,HGDP01034,HGDP01072,HGDP01264,HGDP01334,HGDP01373,NINDS_104,NINDS_113,NINDS_160,NINDS_165,NINDS_171,NINDS_173,NINDS_174,NINDS_218,NINDS_42,NINDS_82 dgv767n27 6 79019259 79109421 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463695,nsv463693,nsv463678,nsv463652,nsv463674,nsv463670,nsv463684,nsv463681,nsv463240,nsv463662,nsv463658,nsv463692,nsv463665,nsv463656,nsv463677,nsv463668,nsv463671,nsv463660,nsv463246,nsv463682,nsv463245,nsv463655,nsv463786,nsv463244,nsv463697,nsv463688,nsv463243,nsv463249,nsv463666,nsv463676,nsv463673,nsv463675,nsv463687,nsv463664,nsv463657,nsv463785,nsv463696,nsv463679,nsv463689,nsv463654,nsv463659,nsv463663,nsv463691,nsv463241,nsv463248,nsv463690,nsv463653,nsv463669,nsv463680,nsv463685,nsv463667,nsv463178 M 1557 0 52 "" 1780846322_A,1780854063_A,1780854334_A,1780854477_A,1780854574_A,1780854585_A,1780862007_A,1780862057_A,1780862071_A,1780862095_A,1780862100_A,1780862197_A,1780862274_A,1780862386_A,1780862391_A,1780862431_A,1782681109_A,1787431166_A,1798860336_A,HGDP00033,HGDP00092,HGDP00149,HGDP00153,HGDP00154,HGDP00264,HGDP00412,HGDP00511,HGDP00541,HGDP00564,HGDP00601,HGDP00614,HGDP00634,HGDP00649,HGDP00650,HGDP00673,HGDP00732,HGDP00753,HGDP00802,HGDP00805,HGDP00808,HGDP00925,HGDP00927,HGDP00933,HGDP00956,HGDP01263,HGDP01269,HGDP01372,HGDP01405,NINDS_106,NINDS_123,NINDS_158,NINDS_18 nsv7930 6 79022028 79094618 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14334,nssv16641,nssv16677,nssv14480,nssv14913,nssv15058,nssv15276,nssv15029,nssv14958,nssv15728,nssv15166,nssv17264,nssv16152,nssv15661,nssv15699,nssv14477,nssv14515,nssv13519,nssv17370,nssv14576,nssv16973,nssv14122,nssv13511,nssv14824,nssv14595 M 31 25 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10863,NA12155,NA12740,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv886245 6 79022244 79081009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599029 S 6533 1 0 "" IS41102 nsv470836 6 79022244 79088460 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544629,nssv544601,nssv544660,nssv544686,nssv544577,nssv544667,nssv544598,nssv544581,nssv544622,nssv544668,nssv544602,nssv544648,nssv544636,nssv544693,nssv544626,nssv544630,nssv544650,nssv544695,nssv544669,nssv544579,nssv544653,nssv544682,nssv544600,nssv544593,nssv544656,nssv544690,nssv544691,nssv544585,nssv544658,nssv544694,nssv544664,nssv544591,nssv544624,nssv544580,nssv544640,nssv544590,nssv544619,nssv544637,nssv544597,nssv544628,nssv544679,nssv544666,nssv544681,nssv544683,nssv544613,nssv544620,nssv544641,nssv544670,nssv544589,nssv544677,nssv544671,nssv544678,nssv544655,nssv544634,nssv544663,nssv544625,nssv544661,nssv544692,nssv544633,nssv544675,nssv544646,nssv544575,nssv544586,nssv544638,nssv544688,nssv544651,nssv544652,nssv544672,nssv544617,nssv544603,nssv544684,nssv544673,nssv544642,nssv544627,nssv544614,nssv544631,nssv544594,nssv544596,nssv544606,nssv544649,nssv544612,nssv544578,nssv544680,nssv544615,nssv544635,nssv544685,nssv544697,nssv544644,nssv544608,nssv544583,nssv544607,nssv544674,nssv544584,nssv544645,nssv544659,nssv544662,nssv544604,nssv544618,nssv544592,nssv544582,nssv544647,nssv544696,nssv544623,nssv544616,nssv544657,nssv544605,nssv544611,nssv544574,nssv544609,nssv544689,nssv544639,nssv544595 M 443 0 112 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056,HGDP00058,HGDP00060,HGDP00313,HGDP00356,HGDP00464,HGDP00548,HGDP00558,HGDP00560,HGDP00561,HGDP00562,HGDP00564,HGDP00570,HGDP00573,HGDP00576,HGDP00577,HGDP00580,HGDP00581,HGDP00584,HGDP00586,HGDP00590,HGDP00591,HGDP00592,HGDP00595,HGDP00598,HGDP00604,HGDP00605,HGDP00608,HGDP00610,HGDP00612,HGDP00613,HGDP00614,HGDP00615,HGDP00616,HGDP00620,HGDP00627,HGDP00628,HGDP00630,HGDP00632,HGDP00633,HGDP00639,HGDP00640,HGDP00641,HGDP00643,HGDP00646,HGDP00647,HGDP00649,HGDP00650,HGDP00654,HGDP00661,HGDP00662,HGDP00676,HGDP00684,HGDP00686,HGDP00688,HGDP00690,HGDP00691,HGDP00692,HGDP00696,HGDP00698,HGDP00701,HGDP00722,HGDP00787,HGDP00789,HGDP00825,HGDP00879,HGDP00882,HGDP00883,HGDP00890,HGDP00892,HGDP00893,HGDP00902,HGDP00906,HGDP00908,HGDP00912,HGDP00922,HGDP00923,HGDP00925,HGDP00926,HGDP00927,HGDP00932,HGDP00933,HGDP00956,HGDP01028,HGDP01034,HGDP01091,HGDP01254,HGDP01257,HGDP01261,HGDP01263,HGDP01264,HGDP01265,HGDP01267,HGDP01269,HGDP01271,HGDP01274,HGDP01277,HGDP01280,HGDP01281,HGDP01285,HGDP01301,HGDP01357,HGDP01358,HGDP01366,HGDP01384,HGDP01385,HGDP01386,HGDP01397,HGDP01404,HGDP01405,HGDP01418,HGDP01419 nsv511331 6 79022244 79092458 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625577 S 1 1 0 "" 1 dgv6922n71 6 79022244 79098352 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv886250,nsv886268,nsv886279,nsv886287,nsv886293 M 6533 7 628 "" IS30035,IS30066,IS30080,IS30085,IS30097,IS30134,IS30135,IS30138,IS30141,IS30149,IS30166,IS30191,IS30204,IS30222,IS30245,IS30255,IS30292,IS30295,IS30297,IS30301,IS30322,IS30331,IS30350,IS30363,IS30369,IS30372,IS30411,IS30423,IS30459,IS30473,IS30490,IS30493,IS30564,IS30635,IS30668,IS30725,IS30826,IS30953,IS31022,IS31046,IS31054,IS31063,IS31179,IS31183,IS31187,IS31189,IS31227,IS31234,IS31285,IS31286,IS31326,IS31338,IS31396,IS31722,IS31825,IS31832,IS32343,IS32395,IS32429,IS32664,IS32697,IS32703,IS32714,IS32737,IS32766,IS32777,IS32805,IS32822,IS32843,IS32944,IS32990,IS33076,IS33150,IS33175,IS33196,IS33221,IS33243,IS33263,IS33351,IS33361,IS33372,IS33393,IS33403,IS33472,IS33491,IS33522,IS33529,IS33544,IS33559,IS33592,IS33605,IS33632,IS33651,IS33684,IS33724,IS33747,IS33774,IS33786,IS33797,IS33837,IS33852,IS33871,IS33959,IS34005,IS34019,IS34055,IS34218,IS34264,IS34304,IS34358,IS34397,IS34416,IS34472,IS34473,IS34491,IS34530,IS34543,IS34562,IS34599,IS34610,IS34612,IS34648,IS34658,IS34659,IS34756,IS34760,IS34779,IS34820,IS34909,IS34912,IS35015,IS35028,IS35129,IS35161,IS35189,IS35196,IS35227,IS35270,IS35390,IS35428,IS35486,IS35523,IS35538,IS35549,IS35558,IS35561,IS35571,IS35704,IS35728,IS35765,IS35768,IS35800,IS35862,IS35911,IS35949,IS35993,IS36051,IS36099,IS36287,IS36364,IS36400,IS36458,IS36481,IS36492,IS36678,IS36722,IS36728,IS36766,IS36772,IS36882,IS36899,IS36939,IS37059,IS37064,IS37098,IS37110,IS37238,IS37292,IS37326,IS37348,IS37404,IS37450,IS37471,IS37480,IS37546,IS37554,IS37612,IS37632,IS37691,IS37704,IS37730,IS37853,IS37874,IS37892,IS37909,IS37960,IS37995,IS37996,IS38016,IS38031,IS38050,IS38055,IS38058,IS38078,IS38087,IS38098,IS38114,IS38128,IS38138,IS38149,IS38166,IS38176,IS38186,IS38198,IS38208,IS38219,IS38237,IS38241,IS38264,IS38265,IS38281,IS38285,IS38293,IS38309,IS38313,IS38315,IS38338,IS38341,IS38379,IS38380,IS38419,IS38429,IS38431,IS38438,IS38444,IS38455,IS38465,IS38491,IS38503,IS38511,IS38513,IS38515,IS38524,IS38525,IS38542,IS38554,IS38572,IS38577,IS38585,IS38603,IS38604,IS38635,IS38645,IS38652,IS38671,IS38736,IS38804,IS38849,IS38959,IS38962,IS38972,IS38993,IS38994,IS39011,IS39042,IS39061,IS39081,IS39088,IS39100,IS39104,IS39116,IS39119,IS39181,IS39335,IS39361,IS39414,IS39418,IS39429,IS39509,IS39517,IS39526,IS39530,IS39637,IS39642,IS39656,IS39676,IS39716,IS39750,IS39863,IS39886,IS39900,IS39914,IS39971,IS40021,IS40024,IS40047,IS40130,IS40145,IS40226,IS40247,IS40292,IS40296,IS40299,IS40302,IS40318,IS40319,IS40342,IS40373,IS40380,IS40416,IS40494,IS40521,IS40524,IS40556,IS40558,IS40635,IS40646,IS40716,IS40729,IS40730,IS40734,IS40735,IS40739,IS40769,IS40802,IS40823,IS40838,IS40839,IS40849,IS40872,IS40874,IS40883,IS40890,IS40940,IS40947,IS41008,IS41061,IS41098,IS41105,IS41168,IS41213,IS41284,IS41296,IS41448,IS41525,IS41565,IS41576,IS41603,IS41647,IS41795,IS41803,IS41824,IS41832,IS41868,IS41871,IS41877,IS41884,IS41889,IS41905,IS41909,IS41919,IS41922,IS41934,IS41938,IS41956,IS41971,IS41983,IS41991,MS10150,MS10375,MS10381,MS10714,MS10720,MS10818,MS11171,MS11194,MS11199,MS11307,MS11331,MS11333,MS11336,MS11396,MS11451,MS11537,MS12017,MS12432,MS12630,MS12634,MS12791,MS12883,MS12986,MS13154,MS13219,MS13240,MS13362,MS13441,MS13448,MS13491,MS13500,MS13502,MS13511,MS13552,MS13621,MS13744,MS13758,MS14157,MS14385,MS14684,MS14809,MS14938,MS14947,MS15022,MS15065,MS15365,MS15383,MS15389,MS15397,MS15589,MS15601,MS15871,MS15885,MS15916,MS15921,MS15991,MS16008,MS16048,MS16056,MS16078,MS16158,MS16314,MS16337,MS16343,MS16347,MS16373,MS16387,MS16396,MS16544,MS16588,MS16635,MS16711,MS16772,MS16824,MS16846,MS16986,MS17043,MS17121,MS17148,MS17255,MS17501,MS17611,MS17680,MS17691,MS17696,MS17785,MS17915,MS18117,MS18153,MS18159,MS18192,MS18212,MS18217,MS18226,MS18252,MS18588,MS18789,MS18830,MS18873,MS18916,MS18956,MS19301,MS19438,MS19460,MS19488,MS19503,MS19606,MS19930,MS19941,MS20030,MS20037,MS20196,MS20359,MS20546,MS20741,MS20785,MS20888,MS21194,MS21216,MS21522,MS21626,MS21628,MS21677,MS21814,MS22000,MS22122,MS22268,MS22321,MS22568,MS22611,MS22798,MS22809,MS22814,MS22836,MS23210,MS23486,MS23685,MS23713,MS23758,MS23889,MS23977,MS24108,MS24162,MS24187,MS24357,MS24360,MS24365,MS24372,MS24381,MS24459,MS24477,MS24605,MS24624,MS24662,MS24868,MS24897,MS25112,MS25197,MS25275,MS25331,MS25373,MS25703,MS25710,MS25789,MS25853,MS26119,SP50091,SP50094,SP50119,SP50153,SP50519,SP50521,SP50548,SP50615,SP50709,SP50767,SP50775,SP50825,SP50830,SP50843,SP50880,SP50908,SP51188,SP51261,SP51302,SP51436,SP52053,SP52130,SP52255,SP52263,SP52297,SP52313,SP52579,SP52692,SP52694,SP52701,SP52734,SP52889,SP53131,SP53732,SP53894,SP53972,SP54148,SP54197,SP54275,SP54402,SP54480,SP54535,SP54552,SP54559,SP54753,SP54803,SP54885,SP54952,SP54957,SP54958,SP55100,SP55126,SP55152,SP55310,SP55339,SP55489,SP55567,SP55652,SP55698,SP55829,SP56289,SP56350,SP56390,SP56396,SP56448,SP56539,SP56574,SP56653,SP56805,SP56846,SP56912,SP56947,SP57158,SP57173,SP57306,SP57453,SP57518,SP57604,SP57681,SP57730,SP57873,SP57884,SP58114,SP58404,SP58462,SP58502,SP58537,SP80936,SP80982,SP81015,SP81040,SP81072,SP81197,SP81239,SP81243,SP81260,SP81348,SP81356,SP81361,SP81388,SP81475 dgv8n43 6 79023308 79093066 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array nsv820271,nsv819757 M 2 0 1 "" AK1 dgv1053n67 6 79023480 79094247 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823749,nsv823751,nsv823750 M 31 0 11 "" AK12,AK2,AK20,AK6,NA18542,NA18564,NA18947,NA18968,NA18969,NA18997,NA18999 nsv821337 6 79023480 79094247 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420595 S 1 0 1 "" NA10851 nsv499755 6 79023910 79093137 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585992 S 9 0 1 "" esv28718 6 79024187 79093007 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19716 S 451 33 0 "" NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv32969 6 79024586 79091879 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101465,essv98784,essv97464,essv101199,essv93821,essv100720,essv94674,essv94103,essv97002,essv95706,essv95491,essv93085,essv94634,essv92798,essv93609,essv96218,essv97166,essv98538,essv99709,essv95011,essv92607,essv99266,essv97717,essv100567,essv94275 M 51 0 25 "" 21603,21606,21616,21618,21634,21656,21791,21802,21817,21841,21847,21863,21932,21944,21972,22007,22075,22085,22217,22231,22233,22275,22278,22298,22394 esv2422170 6 79025784 79091904 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5135633,essv5101545,essv5065163,essv5152346,essv5006056,essv5106416,essv5072957,essv5135977,essv5131351,essv5132134,essv5006263,essv5050938,essv5106872,essv5014238,essv5023920,essv5150734,essv5039365,essv5037422,essv5109680,essv5134505,essv5052880,essv5007310,essv5094676,essv5007178,essv5150491,essv5076173,essv5084442,essv5090044,essv5060382,essv5078736,essv5132430,essv5085489,essv5124729,essv5044784,essv5082461,essv5072824,essv5134085,essv5149472,essv5153341,essv5047556,essv5037017,essv5085476,essv5061353,essv5015748,essv5042547,essv5062089,essv5080724,essv5124669,essv5042308,essv5152861,essv5077132,essv5005489,essv5004672,essv5035421,essv5142773,essv5107645,essv5118882,essv5025632,essv5123930,essv5109301,essv5083556,essv5004982,essv5039306,essv5121141,essv5011167,essv5123015,essv5134725,essv5116627,essv5149520,essv5150052,essv5134132,essv5049122,essv5136551,essv5143152,essv5023587,essv5015813,essv5097934,essv5059277,essv5054144,essv5034456,essv5055716,essv5093209,essv5154818,essv5076599,essv5054182,essv5009842,essv5132041,essv5023978,essv5056863,essv5056622,essv5053378,essv5083420,essv5146712,essv5114713,essv5008338,essv5075369,essv5145064,essv5039390,essv5160141,essv5117926,essv5102494,essv5048285,essv5042131,essv5143610,essv5025721,essv5159080,essv5071393,essv5068507,essv5136031,essv5087981,essv5067470,essv5112624,essv5088924,essv5039761,essv5124188,essv5138813,essv5159547,essv5070785,essv5019427,essv5144549,essv5027502,essv5050805,essv5130990,essv5085607,essv5016916,essv5095463,essv5055355,essv5039585,essv5033663,essv5154056,essv5003618,essv5030629,essv5025323,essv5151141,essv5035211,essv5012881,essv5121907,essv5106495,essv5074860,essv5094800,essv5151893,essv5031877,essv5115718,essv5064697,essv5020276,essv5026710,essv5043295,essv5019215,essv5063170,essv5030404,essv5106323,essv5007520,essv5111278,essv5103866,essv5111161,essv5107831,essv5107778,essv5043507,essv5053885,essv5078037,essv5103485,essv5156374,essv5121172,essv5084763,essv5032342,essv5098923,essv5080482,essv5099963,essv5074553,essv5143089,essv5047087,essv5079099,essv5070637,essv5122828,essv5150682,essv5013635,essv5063508,essv5050715,essv5034281,essv5021821,essv5144110,essv5122736,essv5069722,essv5080813,essv5125240,essv5006769,essv5027641,essv5106224,essv5135133,essv5054162,essv5098261,essv5156878,essv5060483,essv5138079,essv5057911,essv5003053,essv5045046,essv5088971,essv5090183,essv5044946,essv5042909,essv5089628,essv5083908,essv5093174,essv5083332,essv5070431,essv5043795,essv5022447,essv5034865,essv5026884,essv5130657,essv5145054,essv5144447,essv5025417,essv5058416,essv5010416,essv5083437,essv5080085,essv5062680,essv5149492,essv5026203,essv5005823,essv5033621,essv5109130,essv5016044,essv5127955,essv5009561,essv5090793,essv5059365,essv5112303,essv5019600,essv5146847,essv5129144,essv5030055,essv5063380,essv5061542,essv5134840,essv5115706,essv5034832,essv5136017,essv5135583,essv5056582,essv5145202,essv5070533,essv5060201,essv5109530,essv5052586,essv5133552,essv5145062,essv5018502,essv5065015,essv5073690,essv5003321,essv5131755,essv5116591,essv5060227,essv5061543,essv5033126,essv5014972,essv5142788,essv5155249,essv5086204,essv5077379,essv5008561,essv5065808,essv5141618,essv5109910,essv5112116,essv5065758,essv5156112,essv5011035,essv5011871,essv5008723,essv5116851,essv5038425,essv5111132,essv5090766,essv5102048,essv5054592,essv5145776,essv5016698,essv5126594,essv5154493,essv5117408,essv5039431,essv5025890,essv5007889,essv5134415,essv5013430,essv5135052,essv5106687 M 1184 0 291 "" NA06984,NA06985,NA06991,NA06993,NA06994,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07056,NA07345,NA07346,NA07348,NA07349,NA07357,NA10830,NA10835,NA10836,NA10838,NA10840,NA10843,NA10846,NA10847,NA10852,NA10855,NA11830,NA11832,NA11843,NA11881,NA11882,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA12003,NA12056,NA12144,NA12145,NA12146,NA12249,NA12264,NA12283,NA12286,NA12335,NA12340,NA12341,NA12344,NA12347,NA12400,NA12413,NA12749,NA12750,NA12753,NA12762,NA12767,NA12777,NA12802,NA12813,NA12814,NA12830,NA12832,NA12842,NA12843,NA12865,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12891,NA17967,NA17977,NA17986,NA18139,NA18153,NA18157,NA18499,NA18503,NA18504,NA18632,NA18640,NA18647,NA18852,NA18859,NA18862,NA18863,NA18867,NA18869,NA18913,NA18914,NA18944,NA18947,NA18954,NA18955,NA18957,NA18964,NA18965,NA18966,NA18987,NA18995,NA18998,NA19000,NA19001,NA19028,NA19031,NA19055,NA19070,NA19075,NA19081,NA19085,NA19119,NA19171,NA19179,NA19181,NA19184,NA19186,NA19198,NA19209,NA19210,NA19211,NA19257,NA19258,NA19310,NA19314,NA19315,NA19319,NA19324,NA19332,NA19334,NA19373,NA19394,NA19430,NA19431,NA19436,NA19625,NA19649,NA19650,NA19658,NA19659,NA19669,NA19670,NA19675,NA19679,NA19680,NA19681,NA19684,NA19686,NA19712,NA19719,NA19725,NA19749,NA19750,NA19751,NA19759,NA19779,NA19781,NA19819,NA19828,NA19914,NA19915,NA19916,NA19918,NA19921,NA19982,NA20279,NA20282,NA20284,NA20301,NA20302,NA20322,NA20336,NA20359,NA20360,NA20364,NA20502,NA20505,NA20506,NA20508,NA20509,NA20510,NA20516,NA20518,NA20519,NA20520,NA20524,NA20525,NA20528,NA20531,NA20539,NA20541,NA20542,NA20581,NA20586,NA20588,NA20752,NA20754,NA20755,NA20757,NA20760,NA20761,NA20765,NA20769,NA20771,NA20772,NA20786,NA20790,NA20799,NA20804,NA20806,NA20807,NA20808,NA20812,NA20813,NA20818,NA20828,NA20846,NA20847,NA20849,NA20859,NA20869,NA20877,NA20882,NA20883,NA20889,NA20890,NA20891,NA20894,NA20895,NA20896,NA20903,NA20904,NA20907,NA20908,NA21086,NA21089,NA21090,NA21091,NA21098,NA21106,NA21107,NA21111,NA21117,NA21118,NA21123,NA21125,NA21141,NA21307,NA21308,NA21333,NA21344,NA21357,NA21364,NA21366,NA21367,NA21370,NA21378,NA21379,NA21390,NA21400,NA21418,NA21420,NA21423,NA21425,NA21457,NA21473,NA21480,NA21485,NA21487,NA21491,NA21513,NA21514,NA21517,NA21522,NA21524,NA21525,NA21529,NA21574,NA21575,NA21577,NA21578,NA21600,NA21615,NA21650,NA21693,NA21722,NA21826 nsv442991 6 79025784 79091904 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514376 6 79028816 79087872 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627828 S 1414 0 1 "" dgv6923n71 6 79029649 79090197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886258,nsv886257,nsv886253,nsv886260,nsv886259,nsv886278,nsv886264,nsv886263,nsv886267,nsv886270,nsv886274,nsv886275,nsv886282,nsv886285,nsv886284,nsv886286,nsv886283,nsv886292 M 6533 0 24 "" IS30039,IS30275,IS30530,IS31066,IS31193,IS31211,IS32533,IS33200,IS34770,IS35255,IS36825,IS37062,IS37069,IS37159,IS38008,IS38067,IS38193,IS38292,IS38544,IS39714,IS39929,IS39966,IS40240,IS41703 nsv433236 6 79029649 79090197 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463117 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv437972 6 79029920 79039487 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468784,nssv468782,nssv468783,nssv468781 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18503,NA18504,NA18913,NA18914 nsv886255 6 79029920 79069674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590629 S 6533 0 1 "" IS38541 dgv6924n71 6 79029920 79078423 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886256,nsv886266,nsv886262,nsv886272,nsv886273,nsv886280,nsv886289,nsv886281,nsv886288,nsv886290 M 6533 0 13 "" IS30412,IS32719,IS33143,IS35380,IS36887,IS38246,IS38291,IS38634,IS40017,IS40062,IS40990,IS41497,IS41830 nsv818431 6 79029920 79078423 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417184,nssv1417032 M 112 2 0 "" NA07000,NA18550 dgv59n64 6 79029920 79088461 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array nsv818435,nsv818432 M 112 6 32 "" NA06985,NA06991,NA06993,NA06994,NA07029,NA07345,NA07348,NA07357,NA10830,NA10835,NA10847,NA10851,NA11881,NA11882,NA12056,NA12146,NA12236,NA12249,NA12264,NA12750,NA12813,NA12865,NA12874,NA12875,NA12878,NA12891,NA12892,NA18577,NA18608,NA18609,NA18852,NA18944,NA18952,NA18960,NA18965,NA18987,NA19119,NA19171 dgv768n27 6 79029920 79088461 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463853,nsv463847,nsv463708,nsv463747,nsv463527,nsv463524,nsv463818,nsv463730,nsv463610,nsv463851,nsv463255,nsv463791,nsv463856,nsv463742,nsv463857,nsv463842,nsv463755,nsv463257,nsv463731,nsv463840,nsv463815,nsv463814,nsv463746,nsv463768,nsv463762,nsv463570,nsv463795,nsv463802,nsv463823,nsv463852,nsv463824,nsv463596,nsv463721,nsv463800,nsv463796,nsv463620,nsv463718,nsv463618,nsv463468,nsv463564,nsv463729,nsv463764,nsv463792,nsv463719,nsv463598,nsv463701,nsv463589,nsv463871,nsv463878,nsv463745,nsv463859,nsv463737,nsv463752,nsv463608,nsv463771,nsv463519,nsv463276,nsv463801,nsv463803,nsv463568,nsv463837,nsv463877,nsv463846,nsv463860,nsv463873,nsv463748,nsv463700,nsv463754,nsv463841,nsv463797,nsv463830,nsv463698,nsv463777,nsv463845,nsv463606,nsv463798,nsv463311,nsv463870,nsv463738,nsv463863,nsv463769,nsv463849,nsv463854,nsv463277,nsv463258,nsv463793,nsv463579,nsv463806,nsv463763,nsv463740,nsv463808,nsv463735,nsv463867,nsv463781,nsv463767,nsv463253,nsv463715,nsv463790,nsv463835,nsv463546,nsv463757,nsv463832,nsv463828,nsv463551,nsv463844,nsv463725,nsv463758,nsv463862,nsv463724,nsv463756,nsv463866,nsv463834,nsv463556,nsv463722,nsv463807,nsv463635,nsv463858,nsv463723,nsv463780,nsv463843 M 1557 120 0 "" 1780846321_A,1780854017_A,1780854039_A,1780854065_A,1780854100_A,1780854129_A,1780854176_A,1780854179_A,1780854216_A,1780854235_A,1780854255_A,1780854257_A,1780854295_A,1780854313_A,1780854362_A,1780854382_A,1780854391_A,1780854418_A,1780854430_A,1780854444_A,1780854459_A,1780854467_A,1780854483_A,1780854484_A,1780854491_A,1780854518_A,1780854522_A,1780854532_A,1780854540_A,1780854558_A,1780854568_A,1780862021_A,1780862041_A,1780862043_A,1780862078_A,1780862081_A,1780862082_A,1780862085_A,1780862090_A,1780862109_A,1780862161_A,1780862175_A,1780862202_A,1780862246_A,1780862260_A,1780862298_A,1780862299_A,1780862301_A,1780862345_A,1780862346_A,1780862356_A,1780862373_A,1780862378_A,1780862381_A,1780862393_A,1780862433_A,1780862437_A,1780862443_A,1780862448_A,1780862457_A,1780862461_A,1780862469_A,1780862505_A,1780862520_A,1780862521_A,1780862551_A,1780862559_A,1780862586_A,1780862594_A,1780862597_A,1782681102_A,1782681142_A,1782681263_A,1782681277_A,1782681278_A,1782681294_A,1787431167_A,1798860210_A,1798860277_A,1798860280_A,1798860491_A,HGDP00417,HGDP00554,HGDP00594,HGDP00668,HGDP01021,NINDS_102,NINDS_12,NINDS_124,NINDS_127,NINDS_130,NINDS_134,NINDS_135,NINDS_136,NINDS_189,NINDS_190,NINDS_201,NINDS_208,NINDS_210,NINDS_215,NINDS_216,NINDS_217,NINDS_22,NINDS_225,NINDS_23,NINDS_239,NINDS_240,NINDS_247,NINDS_26,NINDS_260,NINDS_268,NINDS_49,NINDS_58,NINDS_65,NINDS_7,NINDS_70,NINDS_73,NINDS_74,NINDS_83,NINDS_98 dgv769n27 6 79029920 79088461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463501,nsv463704,nsv463370,nsv463504,nsv463638,nsv463485,nsv463391,nsv463378,nsv463340,nsv463813,nsv463770,nsv463445,nsv463404,nsv463290,nsv463529,nsv463584,nsv463281,nsv463267,nsv463778,nsv463418,nsv463537,nsv463307,nsv463414,nsv463286,nsv463595,nsv463401,nsv463321,nsv463409,nsv463744,nsv463448,nsv463645,nsv463641,nsv463804,nsv463296,nsv463392,nsv463323,nsv463407,nsv463593,nsv463427,nsv463335,nsv463600,nsv463437,nsv463513,nsv463421,nsv463510,nsv463356,nsv463773,nsv463741,nsv463819,nsv463523,nsv463460,nsv463574,nsv463569,nsv463432,nsv463389,nsv463487,nsv463412,nsv463464,nsv463585,nsv463275,nsv463289,nsv463282,nsv463642,nsv463354,nsv463821,nsv463264,nsv463297,nsv463348,nsv463799,nsv463345,nsv463630,nsv463609,nsv463405,nsv463262,nsv463366,nsv463488,nsv463576,nsv463743,nsv463477,nsv463309,nsv463760,nsv463336,nsv463355,nsv463533,nsv463621,nsv463703,nsv463379,nsv463711,nsv463360,nsv463717,nsv463273,nsv463452,nsv463707,nsv463543,nsv463779,nsv463560,nsv463869,nsv463644,nsv463601,nsv463420,nsv463440,nsv463531,nsv463643,nsv463423,nsv463302,nsv463364,nsv463632,nsv463647,nsv463375,nsv463325,nsv463516,nsv463293,nsv463498,nsv463254,nsv463474,nsv463387,nsv463473,nsv463451,nsv463304,nsv463280,nsv463305,nsv463581,nsv463500,nsv463782,nsv463333,nsv463312,nsv463512,nsv463344,nsv463322,nsv463759,nsv463649,nsv463429,nsv463486,nsv463530,nsv463732,nsv463268,nsv463467,nsv463447,nsv463442,nsv463734,nsv463709,nsv463436,nsv463535,nsv463320,nsv463575,nsv463636,nsv463410,nsv463648,nsv463397,nsv463315,nsv463549,nsv463463,nsv463263,nsv463413,nsv463766,nsv463456,nsv463400,nsv463552,nsv463330,nsv463381,nsv463353,nsv463252,nsv463458,nsv463751,nsv463279,nsv463525,nsv463622,nsv463776,nsv463515,nsv463362,nsv463542,nsv463388,nsv463251,nsv463269,nsv463408,nsv463534,nsv463433,nsv463303,nsv463270,nsv463558,nsv463706,nsv463334,nsv463402,nsv463471,nsv463385,nsv463352,nsv463313,nsv463736,nsv463713,nsv463577,nsv463833,nsv463499,nsv463810,nsv463836,nsv463875,nsv463386,nsv463495,nsv463285,nsv463541,nsv463580,nsv463274,nsv463415,nsv463287,nsv463492,nsv463301,nsv463373,nsv463327,nsv463369,nsv463398,nsv463855,nsv463288,nsv463557,nsv463399,nsv463651,nsv463625,nsv463578,nsv463358,nsv463376,nsv463565,nsv463457,nsv463637,nsv463491,nsv463422,nsv463299,nsv463359,nsv463347,nsv463809,nsv463342,nsv463459,nsv463586,nsv463633,nsv463318,nsv463566,nsv463265,nsv463538,nsv463868,nsv463346,nsv463478,nsv463520,nsv463553,nsv463443,nsv463547,nsv463341,nsv463357,nsv463266,nsv463425,nsv463702,nsv463599,nsv463260,nsv463613,nsv463712,nsv463831,nsv463784,nsv463629,nsv463640,nsv463431,nsv463338,nsv463314,nsv463271,nsv463453,nsv463825,nsv463714,nsv463615,nsv463817,nsv463441,nsv463466,nsv463612,nsv463324,nsv463316,nsv463554,nsv463455,nsv463726,nsv463521,nsv463292,nsv463430,nsv463602,nsv463733,nsv463597,nsv463573,nsv463337,nsv463331,nsv463475,nsv463753,nsv463503,nsv463518,nsv463522,nsv463484,nsv463582,nsv463749,nsv463720,nsv463449,nsv463604,nsv463259,nsv463774,nsv463555,nsv463435,nsv463393,nsv463536,nsv463812,nsv463548,nsv463377,nsv463482,nsv463614,nsv463848,nsv463308,nsv463540,nsv463626,nsv463559,nsv463822,nsv463634,nsv463384,nsv463278,nsv463374,nsv463631,nsv463591,nsv463829,nsv463699,nsv463326,nsv463434,nsv463479,nsv463444,nsv463514,nsv463438,nsv463426,nsv463562,nsv463508,nsv463382,nsv463390,nsv463623,nsv463416,nsv463332,nsv463590,nsv463507,nsv463493,nsv463465,nsv463365,nsv463424,nsv463611,nsv463298,nsv463291,nsv463710,nsv463329,nsv463319,nsv463351,nsv463874,nsv463544,nsv463380,nsv463811,nsv463368,nsv463627,nsv463343,nsv463349,nsv463490,nsv463820,nsv463603,nsv463646,nsv463411,nsv463310,nsv463462,nsv463826,nsv463545,nsv463496,nsv463876,nsv463563,nsv463300,nsv463363,nsv463481,nsv463509,nsv463294,nsv463446,nsv463511,nsv463571,nsv463497,nsv463526,nsv463607,nsv463454,nsv463567,nsv463469,nsv463592,nsv463588,nsv463470,nsv463765,nsv463587,nsv463489,nsv463480,nsv463532,nsv463403,nsv463419,nsv463396,nsv463371,nsv463256,nsv463775,nsv463476,nsv463502,nsv463367,nsv463624,nsv463619 M 1557 0 397 "" 1780846005_A,1780854009_A,1780854023_A,1780854061_A,1780854079_A,1780854080_A,1780854095_A,1780854101_A,1780854117_A,1780854128_A,1780854196_A,1780854197_A,1780854198_A,1780854215_A,1780854219_A,1780854231_A,1780854238_A,1780854260_A,1780854264_A,1780854278_A,1780854288_A,1780854294_A,1780854296_A,1780854299_A,1780854327_A,1780854335_A,1780854336_A,1780854339_A,1780854354_A,1780854357_A,1780854393_A,1780854441_A,1780854445_A,1780854446_A,1780854449_A,1780854462_A,1780854464_A,1780854481_A,1780854485_A,1780854486_A,1780854487_A,1780854489_A,1780854492_A,1780854499_A,1780854517_A,1780854525_A,1780854535_A,1780854545_A,1780854566_A,1780854573_A,1780854592_A,1780862003_A,1780862020_A,1780862040_A,1780862066_A,1780862067_A,1780862075_A,1780862076_A,1780862084_A,1780862088_A,1780862089_A,1780862108_A,1780862125_A,1780862127_A,1780862162_A,1780862206_A,1780862212_A,1780862225_A,1780862252_A,1780862261_A,1780862303_A,1780862307_A,1780862310_A,1780862358_A,1780862360_A,1780862366_A,1780862372_A,1780862384_A,1780862390_A,1780862402_A,1780862403_A,1780862404_A,1780862408_A,1780862410_A,1780862414_A,1780862416_A,1780862424_A,1780862466_A,1780862470_A,1780862516_A,1780862517_A,1780862518_A,1780862539_A,1780862546_A,1780862557_A,1780862563_A,1780862564_A,1780862578_A,1780862584_A,1780862590_A,1780862592_A,1782681024_A,1782681079_A,1782681086_A,1782681091_A,1782681096_A,1782681112_A,1782681114_A,1782681116_A,1782681117_A,1782681164_A,1782681208_A,1782681210_A,1782681217_A,1782681235_A,1782681237_A,1782681247_A,1782681274_A,1782681555_A,1787431195_A,1787431197_A,1788485590_A,1798860047_A,1798860084_A,1798860166_A,1798860186_A,1798860191_A,1798860192_A,1798860217_A,1798860361_A,1798860552_A,1798860565_A,1798860569_A,1798860570_A,1798860592_A,1798860594_A,HGDP00013,HGDP00037,HGDP00043,HGDP00056,HGDP00058,HGDP00060,HGDP00082,HGDP00094,HGDP00099,HGDP00100,HGDP00104,HGDP00108,HGDP00112,HGDP00121,HGDP00127,HGDP00133,HGDP00143,HGDP00155,HGDP00157,HGDP00158,HGDP00160,HGDP00173,HGDP00192,HGDP00199,HGDP00208,HGDP00226,HGDP00244,HGDP00259,HGDP00274,HGDP00285,HGDP00307,HGDP00313,HGDP00336,HGDP00356,HGDP00372,HGDP00444,HGDP00445,HGDP00464,HGDP00513,HGDP00518,HGDP00519,HGDP00524,HGDP00529,HGDP00530,HGDP00534,HGDP00535,HGDP00537,HGDP00540,HGDP00543,HGDP00548,HGDP00558,HGDP00561,HGDP00562,HGDP00563,HGDP00565,HGDP00567,HGDP00573,HGDP00576,HGDP00577,HGDP00580,HGDP00581,HGDP00584,HGDP00590,HGDP00591,HGDP00598,HGDP00604,HGDP00608,HGDP00610,HGDP00612,HGDP00613,HGDP00615,HGDP00616,HGDP00620,HGDP00627,HGDP00628,HGDP00630,HGDP00632,HGDP00639,HGDP00641,HGDP00646,HGDP00647,HGDP00654,HGDP00662,HGDP00667,HGDP00669,HGDP00671,HGDP00672,HGDP00674,HGDP00676,HGDP00683,HGDP00684,HGDP00685,HGDP00686,HGDP00688,HGDP00691,HGDP00692,HGDP00696,HGDP00698,HGDP00701,HGDP00722,HGDP00729,HGDP00730,HGDP00734,HGDP00735,HGDP00737,HGDP00738,HGDP00739,HGDP00740,HGDP00741,HGDP00751,HGDP00755,HGDP00761,HGDP00769,HGDP00782,HGDP00783,HGDP00787,HGDP00788,HGDP00797,HGDP00798,HGDP00799,HGDP00807,HGDP00832,HGDP00846,HGDP00852,HGDP00856,HGDP00862,HGDP00879,HGDP00882,HGDP00883,HGDP00884,HGDP00888,HGDP00890,HGDP00892,HGDP00893,HGDP00897,HGDP00900,HGDP00901,HGDP00902,HGDP00906,HGDP00908,HGDP00912,HGDP00926,HGDP00973,HGDP00998,HGDP01027,HGDP01028,HGDP01064,HGDP01066,HGDP01068,HGDP01069,HGDP01071,HGDP01074,HGDP01077,HGDP01079,HGDP01101,HGDP01103,HGDP01147,HGDP01152,HGDP01155,HGDP01162,HGDP01164,HGDP01166,HGDP01173,HGDP01174,HGDP01177,HGDP01206,HGDP01207,HGDP01211,HGDP01234,HGDP01254,HGDP01257,HGDP01261,HGDP01265,HGDP01267,HGDP01271,HGDP01274,HGDP01277,HGDP01280,HGDP01285,HGDP01287,HGDP01301,HGDP01340,HGDP01350,HGDP01357,HGDP01358,HGDP01366,HGDP01374,HGDP01379,HGDP01384,HGDP01385,HGDP01386,HGDP01397,HGDP01400,HGDP01402,HGDP01404,HGDP01418,HGDP01419,NINDS_10,NINDS_100,NINDS_101,NINDS_110,NINDS_111,NINDS_112,NINDS_115,NINDS_118,NINDS_129,NINDS_13,NINDS_133,NINDS_14,NINDS_142,NINDS_15,NINDS_155,NINDS_156,NINDS_172,NINDS_183,NINDS_194,NINDS_197,NINDS_198,NINDS_199,NINDS_203,NINDS_206,NINDS_207,NINDS_209,NINDS_212,NINDS_220,NINDS_221,NINDS_222,NINDS_224,NINDS_226,NINDS_230,NINDS_231,NINDS_232,NINDS_233,NINDS_235,NINDS_237,NINDS_246,NINDS_249,NINDS_253,NINDS_254,NINDS_256,NINDS_29,NINDS_31,NINDS_34,NINDS_35,NINDS_41,NINDS_44,NINDS_47,NINDS_48,NINDS_5,NINDS_56,NINDS_59,NINDS_60,NINDS_61,NINDS_62,NINDS_63,NINDS_64,NINDS_66,NINDS_78,NINDS_80,NINDS_84,NINDS_90 nsv437512 6 79031111 79047544 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467393 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18914 nsv818434 6 79033567 79065999 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415960 S 112 1 0 "" NA12740 dgv6925n71 6 79034386 79086086 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886269,nsv886276 M 6533 2 0 "" IS33055,IS39453 esv35140 6 79036100 79083405 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978307,essv6978306 M 771 0 1 "" NA18998 dgv1983e1 6 79036117 79084209 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3583,essv24022,essv20448,essv15177,essv637,essv19367,essv24196,essv18019,essv24626,essv18785 M 271 0 0 "" NA06994,NA07019,NA07056,NA10846,NA12873,NA12878,NA12891,NA18987,NA18998,NA19210 dgv6926n71 6 79036117 79088461 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv886291,nsv886277 M 6533 3 5 "" IS31257,IS32322,IS33304,IS33504,IS34360,IS39527,IS40297,IS41840 dgv1984e1 6 79036117 79111910 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22795,essv2758,essv7643,essv21906,essv19353,essv2719,essv608,essv22277,essv14825,essv25092 M 271 0 0 "" NA06985,NA10838,NA12753,NA12762,NA12814,NA18632,NA18944,NA18947,NA19000,NA19119 nsv463879 6 79052979 79076473 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539895 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00137 dgv60n64 6 79056617 79088461 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818436,nsv818438 M 112 3 0 "" NA12044,NA12801,NA18968 nsv437973 6 79056617 79089088 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468799,nssv468786,nssv468790,nssv468805,nssv468788,nssv468808,nssv468806,nssv468801,nssv468795,nssv468794,nssv468797,nssv468798,nssv468789,nssv468792,nssv468791,nssv468800,nssv468803,nssv468804,nssv468787,nssv468802,nssv468793,nssv468809 M 269 0 17 Samples from several populations that are part of the HapMap project. "" NA06994,NA07019,NA07022,NA07029,NA10830,NA10835,NA10838,NA10846,NA12003,NA12144,NA12145,NA12236,NA12249,NA18862,NA18863,NA18913,NA18914 nsv463880 6 79056822 79065940 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539896 S 1557 0 1 "" 1780862487_A dgv770n27 6 79056822 79088461 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463884,nsv463882 M 1557 2 0 "" 1780862309_A,1780862452_A dgv771n27 6 79056822 79098352 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463898,nsv463886,nsv463885,nsv463881,nsv463887,nsv463897 M 1557 0 6 "" 1780862579_A,1782681179_A,1788485588_A,NINDS_2,NINDS_27,NINDS_51 nsv821650 6 79058923 79152006 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421193,nssv1421190,nssv1421192 M 31 0 3 "" dgv6927n71 6 79059458 79083049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886296,nsv886294 M 6533 0 2 "" IS38472,IS38583 dgv6928n71 6 79059458 79098352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886297,nsv886295 M 6533 0 5 "" IS34768,IS38538,IS38579,IS41894,IS41997 nsv818437 6 79063712 79070425 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417751 S 112 1 0 "" NA19003 dgv772n27 6 79063712 79088461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463889,nsv463896,nsv463888,nsv463901,nsv463895,nsv463892,nsv463899,nsv463891,nsv463893,nsv463890,nsv463900 M 1557 0 11 "" 1780862123_A,1798860072_A,NINDS_114,NINDS_21,NINDS_213,NINDS_223,NINDS_251,NINDS_258,NINDS_266,NINDS_36,NINDS_43 nsv437005 6 79069278 79084209 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466886 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 dgv773n27 6 79076024 79088461 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463902,nsv463903 M 1557 0 2 "" 1780862074_A,HGDP00341 nsv463904 6 79076024 79098876 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539920 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 dgv123n17 6 79077710 79084209 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437007,nsv437515,nsv437006,nsv437008,nsv437514 M 60 0 5 "" NA10830,NA10835,NA10838,NA18863,NA18914 esv273612 6 79104168 79104509 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581527 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 essv24404 6 79116279 79156482 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12707 nsv7931 6 79135298 79137179 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15729 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 nsv7932 6 79166093 79184939 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14545 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 dgv6929n71 6 79172644 79231356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886299,nsv886298 M 6533 0 2 "" IS33747,IS41803 nsv886300 6 79186682 79398610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589984 S 6533 0 1 "" IS38440 nsv823752 6 79195621 79196076 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438881,nssv1424256 M 31 2 0 "" NA18582,NA18973 esv271529 6 79233097 79233182 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514033 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv522646 6 79241825 79390707 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706046 S 2026 1 0 "" dgv1054n67 6 79261574 79262276 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823754,nsv823755 M 31 4 0 "" AK4,NA18570,NA18592,NA18951 esv7023 6 79343599 79345003 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29464 S 1 0 0 "" SJK esv268571 6 79372446 79372772 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494314,essv2513339,essv2509135,essv2507025,essv2509643,essv2502027 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18907,NA18909,NA19102,NA19129,NA19257 nsv519711 6 79513734 79514294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697007 S 2026 0 1 "" nsv516125 6 79513941 79514294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666380,nssv689436 M 2026 0 2 "" nsv5366 6 79553844 79594290 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9694,nssv562 M 9 0 2 "" NA18507,NA19240 nsv508416 6 79566918 79594925 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618792 S 4 0 1 "" NA10860 esv2565425 6 79577487 79588379 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385824 S 1 0 1 "" NA18507 esv2494469 6 79577617 79588528 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380235 S 1 0 1 "" NA18507 esv2224222 6 79577624 79587516 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755171 S 1 0 1 "" NA18507 nsv823756 6 79577694 79581479 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425026,nssv1433700,nssv1422651,nssv1429114,nssv1435909 M 31 0 5 "" AK12,AK2,NA18526,NA18552,NA18566 nsv823757 6 79577694 79588376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432103 S 31 0 1 "" AK20 nsv819795 6 79577724 79585226 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419828 S 2 1 0 "" AK1 nsv442992 6 79577781 79585293 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514377 6 79577784 79581336 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627829 S 1414 0 1 "" esv27252 6 79577811 79587220 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19223,esv17718 M 451 37 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821210 6 79577811 79588376 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420596 S 1 0 1 "" NA10851 esv272090 6 79598777 79599058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500620,essv2509986,essv2496089,essv2511690,essv2497964 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18571,NA18593,NA18603,NA18940,NA18945 nsv507342 6 79618503 79624503 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620347,nssv622979,nssv617712,nssv621846 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv830705 6 79716016 79886249 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445469 S 95 1 0 PHIP nsv819945 6 79736160 79736584 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418947 S 2 0 1 PHIP AK1 nsv518477 6 79756878 79907146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694240 S 2026 1 0 PHIP esv270820 6 79780473 79780661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506815,essv2511392,essv2502308,essv2500191,essv2512455,essv2508379,essv2508894,essv2500318,essv2498319,essv2508788,essv2497338,essv2498549,essv2494044,essv2503105,essv2503735,essv2495104,essv2501407,essv2498760,essv2497084,essv2501990,essv2498097,essv2502023,essv2503900,essv2511484 M 157 24 0 Samples from several populations that are part of the HapMap project. PHIP NA07037,NA07346,NA11918,NA11920,NA12004,NA12006,NA12043,NA12749,NA12878,NA12891,NA18526,NA18532,NA18545,NA18858,NA18871,NA18943,NA18960,NA18964,NA19093,NA19138,NA19190,NA19239,NA19240,NA19257 esv274137 6 79780473 79780692 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580210,essv2580370,essv2579243,essv2579448 M 7 4 0 Samples from several populations that are part of the HapMap project. PHIP NA12878,NA12891,NA19239,NA19240 nsv830706 6 79882629 80051597 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445470 S 95 1 0 HMGN3,LOC100288198 nsv524012 6 80104580 80109308 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699872 S 2026 0 1 "" nsv5367 6 80137142 80146655 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10508,nssv9430,nssv6074 M 9 3 0 "" NA12156,NA18517,NA18956 nsv509140 6 80138319 80154929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618052,nssv619453,nssv620855,nssv623479 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1005210 6 80140787 80141621 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565217 S 3 1 0 "" HuRef esv268344 6 80143445 80143708 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536742,essv2576536,essv2550464,essv2553865,essv2523963,essv2548845 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11920,NA12154,NA12234,NA12763,NA19129 dgv6930n71 6 80167823 80412692 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886302,nsv886301 M 6533 3 0 LCA5,SH3BGRL2 MS11171,MS13932,SP52721 nsv830707 6 80191344 80381890 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445471 S 95 1 0 LCA5 nsv886303 6 80203944 80309142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570393 S 6533 1 0 LCA5 IS31971 esv23893 6 80216170 80218059 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17907 S 451 0 1 "" NA15510 nsv463906 6 80297670 80370016 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539922 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LCA5 HGDP00082 nsv507343 6 80336408 80342408 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621847 S 4 1 0 "" NA10860 nsv886304 6 80350984 80412692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570394 S 6533 1 0 SH3BGRL2 IS31971 nsv5368 6 80371519 80402629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6075 S 9 1 0 SH3BGRL2 NA12156 nsv886305 6 80490451 80552408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588951 S 6533 1 0 "" IS38269 esv28711 6 80518154 80532956 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12341 S 451 0 1 "" NA19108 esv273195 6 80533357 80533629 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580987 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv6877 6 80541524 80541610 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29318 S 1 1 0 "" SJK nsv523718 6 80583105 80585525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699531 S 2026 0 1 C6orf7 nsv823758 6 80613806 80627055 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433252,nssv1426719 M 31 0 2 C6orf7 AK6,NA18592 nsv516620 6 80621238 80630001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682188,nssv673859,nssv674011,nssv682991,nssv660346,nssv677201,nssv669608,nssv685186 M 2026 0 8 C6orf7 nsv509141 6 80642538 80676242 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620856,nssv618053,nssv623480,nssv619454 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv5369 6 80647028 80674359 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4927 S 9 1 0 "" NA19129 nsv521038 6 80665013 80668335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681760,nssv680458,nssv688728,nssv688142 M 2026 0 4 "" esv1343298 6 80667991 80667991 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280943 S 2 1 0 "" HuRef esv997518 6 80667991 80668295 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563539 S 3 1 0 "" HuRef nsv525646 6 80693958 80697566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701800 S 2026 0 1 ELOVL4 esv2480577 6 80706427 80707775 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309443 S 1 0 1 ELOVL4 NA18507 nsv5370 6 80772070 80808459 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8267 S 9 0 1 TTK NA12156 nsv886306 6 80781385 80811065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505046,nssv1517876 M 6533 0 2 TTK SP53041,SP57401 dgv6931n71 6 80781385 80821830 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886307,nsv886308 M 6533 0 4 TTK SP50137,SP54490,SP56301,SP57472 nsv5371 6 80849121 80882859 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8268 S 9 1 0 BCKDHB NA12156 nsv830708 6 80901002 81053595 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445472,nssv1445474 M 95 2 0 BCKDHB nsv524214 6 80910592 80949146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700101 S 2026 1 0 BCKDHB nsv886309 6 80936857 81016604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538996 S 6533 1 0 BCKDHB MS13932 nsv886310 6 80936857 81082598 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522080,nssv1570395,nssv1533433 M 6533 3 0 BCKDHB IS31971,MS11171,SP52721 esv21744 6 81097041 81112106 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16646 S 451 1 0 BCKDHB NA06985 nsv463907 6 81104278 81132631 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539923 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BCKDHB HGDP00341 esv2355216 6 81167247 81167747 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739090 S 1 0 1 "" NA18507 nsv886311 6 81222897 81296690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560528 S 6533 0 1 "" MS24528 nsv886312 6 81222897 81366200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579178 S 6533 0 1 "" IS35028 nsv886313 6 81233946 81296690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587163 S 6533 1 0 "" IS37990 nsv528057 6 81244646 81248444 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704591 S 2026 0 1 "" nsv463908 6 81289712 81344394 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539924 S 1557 0 1 "" 1780854158_A esv998220 6 81314804 81355548 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563848 S 3 0 1 "" HuRef nsv522523 6 81319707 81355407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705893 S 2026 0 1 "" dgv1985e1 6 81322214 81360930 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1211,essv24113,essv21498,essv18038 M 271 0 0 "" NA06993,NA07048,NA12003 nsv523216 6 81331055 81344394 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698938 S 2026 0 1 "" nsv7933 6 81334276 81350530 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14943,nssv14462,nssv17003,nssv14606,nssv15306 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18972,NA19007 dgv159e180 6 81340459 81350000 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1005679,esv997292,esv996366 M 3 0 1 "" HuRef esv26078 6 81340459 81350256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14530 S 451 0 4 "" NA07037,NA12414,NA12749,NA12776 esv999599 6 81340908 81346253 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586036 S 3 0 1 "" HuRef nsv437974 6 81341226 81341992 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468811,nssv468813,nssv468812,nssv468810 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA06991,NA06993,NA07034,NA07048 dgv774n27 6 81341226 81344394 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463912,nsv463928,nsv463931,nsv463921,nsv463922,nsv463918,nsv463926,nsv463913,nsv463933,nsv463934,nsv463924,nsv463919,nsv463925,nsv463930,nsv463914,nsv463911,nsv463935,nsv463932,nsv463917,nsv463923,nsv463929,nsv463910,nsv463915,nsv463920,nsv463909 M 1557 0 25 "" 1780846004_A,1780854545_A,1780854599_A,1780862311_A,1780862414_A,1780862432_A,1780862574_A,1782681262_A,HGDP00185,HGDP00205,HGDP00758,HGDP00766,HGDP00856,HGDP00995,HGDP00999,HGDP01003,HGDP01010,HGDP01184,HGDP01209,HGDP01236,HGDP01244,HGDP01308,HGDP01383,NINDS_244,NINDS_42 nsv517036 6 81341226 81344394 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654087,nssv685172,nssv655195,nssv688691,nssv692104,nssv663091,nssv684186,nssv693767,nssv679654,nssv668837,nssv700861,nssv669325,nssv653651,nssv654109,nssv656765,nssv682160,nssv692225,nssv651708,nssv687097,nssv693809,nssv663786,nssv668648,nssv669539,nssv661886,nssv687643,nssv661454,nssv689368,nssv656849,nssv665106,nssv659231,nssv679931,nssv652747,nssv687827,nssv675878,nssv680825,nssv679767,nssv663740,nssv685592,nssv690247,nssv674243,nssv687485,nssv672499,nssv679975,nssv674500,nssv669163,nssv689723,nssv663387,nssv662393,nssv669893,nssv684808,nssv667668,nssv690985,nssv660501,nssv666024,nssv670789,nssv690838,nssv654877,nssv661994,nssv690579,nssv686797,nssv671792,nssv692435,nssv692011,nssv657672,nssv682969,nssv660528,nssv690716,nssv680251,nssv657174,nssv668258,nssv658549,nssv665919,nssv689548,nssv690021,nssv667534,nssv655921,nssv663633,nssv674734,nssv666726,nssv674378,nssv668143,nssv672397,nssv653008,nssv682305,nssv677379,nssv663450,nssv689207,nssv688193,nssv652033,nssv670944,nssv681561,nssv691146,nssv685187,nssv671901,nssv657879,nssv689251,nssv661771,nssv659676,nssv657824,nssv687166,nssv684121,nssv687992,nssv690293,nssv667807,nssv670863,nssv667738,nssv664584,nssv652110 M 2026 0 108 "" nsv818439 6 81341226 81344394 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417034,nssv1417815,nssv1417258,nssv1417035,nssv1417092,nssv1415962,nssv1417804,nssv1417463,nssv1417162,nssv1417583,nssv1417384,nssv1417561,nssv1417572,nssv1415963 M 112 0 14 "" NA06991,NA06993,NA06994,NA07029,NA10863,NA12234,NA12264,NA12750,NA12751,NA18529,NA18547,NA18593,NA18949,NA18960 nsv518724 6 81341226 81355407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696174 S 2026 0 1 "" nsv823759 6 81341511 81350215 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427534,nssv1429860,nssv1432907,nssv1434464,nssv1437472,nssv1430626,nssv1440419,nssv1428332,nssv1427051,nssv1435910 M 31 0 10 "" AK10,AK14,AK16,AK8,NA18547,NA18566,NA18570,NA18947,NA18949,NA18972 nsv442993 6 81341677 81346253 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514378 6 81341712 81346032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627830 S 1414 0 1 "" essv19846 6 81342981 81346210 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12234 dgv1986e1 6 81342981 81357777 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19297,essv21908 M 271 0 0 "" NA07022,NA10838 nsv508417 6 81347235 81387309 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622552 S 4 0 1 "" NA18994 nsv7934 6 81355797 81360594 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14152 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv823760 6 81356300 81361105 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435132 S 31 0 1 "" NA18942 essv1974 6 81357777 81360930 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18942 esv1553136 6 81387491 81387593 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974569 S 2 0 1 "" HuRef esv1622387 6 81387960 81387960 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128824 S 2 1 0 "" HuRef esv1085943 6 81388287 81388339 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894229 S 2 0 1 "" HuRef nsv886314 6 81397894 81436510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570295 S 6533 0 1 "" IS31875 nsv886315 6 81409234 82003585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597734 S 6533 1 0 "" IS40890 esv273795 6 81437737 81438097 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578866,essv2579574 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv267855 6 81437741 81437826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516665,essv2514117,essv2515078,essv2515536,essv2518850,essv2518379 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12812,NA12815,NA19239,NA19240 nsv886316 6 81447032 81611183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587164 S 6533 1 0 "" IS37990 nsv886317 6 81485055 81593316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558477 S 6533 0 1 "" MS23290 nsv886318 6 81504086 81826257 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546139 S 6533 0 1 "" MS17114 nsv507344 6 81524713 81530713 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621848 S 4 1 0 "" NA10860 esv3045 6 81527390 81527614 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25486 S 1 0 1 Single Asian sample YH "" YH esv27502 6 81563961 81570851 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10379 S 451 0 1 "" NA19240 nsv517853 6 81586058 81664102 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695257 S 2026 1 0 "" nsv516345 6 81593316 81611183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667717,nssv657356 M 2026 0 2 "" nsv516497 6 81653169 81672310 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670621,nssv680073,nssv668688 M 2026 0 3 "" esv2530972 6 81668430 81669904 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261244 S 1 0 1 "" NA18507 nsv830709 6 81671846 81849966 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445475 S 95 0 1 "" nsv508418 6 81672870 81695684 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622553 S 4 0 1 "" NA18994 nsv436507 6 81681627 81687754 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466301 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1000355 6 81681658 81689690 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564477 S 3 0 1 "" HuRef esv2453053 6 81682226 81688231 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209125 S 1 0 1 "" NA18507 esv2159121 6 81682497 81687588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741530 S 1 0 1 "" NA18507 esv3871 6 81682626 81687535 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26312 S 1 0 1 Single Asian sample YH "" YH esv6515 6 81682685 81687378 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28956 S 1 0 1 "" SJK esv996922 6 81682688 81687382 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578965 S 3 0 1 "" HuRef esv1150391 6 81682701 81687396 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689862 S 2 0 1 "" HuRef nsv886319 6 81727439 81798176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549226 S 6533 0 1 "" MS18143 nsv886320 6 81727439 82016826 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587165 S 6533 1 0 "" IS37990 nsv886321 6 81764229 81991324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563315 S 6533 0 1 "" MS25963 nsv830710 6 81784421 81945758 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445476 S 95 1 0 "" esv267633 6 81798985 81799300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494933,essv2507299,essv2506515,essv2499017,essv2501828,essv2498140 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18520,NA18912,NA19108,NA19114,NA19239,NA19240 esv273906 6 81798996 81799205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581906,essv2583137,essv2584201,essv2583383 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 nsv886322 6 81802655 81869535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518752 S 6533 0 1 "" SP57983 dgv6932n71 6 81826357 81904850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886325,nsv886324,nsv886323 M 6533 0 3 "" IS41317,MS12827,SP53041 nsv830711 6 81828294 81993941 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445477 S 95 0 1 "" nsv463936 6 81841622 81950044 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539952 S 1557 1 0 "" NINDS_208 nsv886326 6 81843403 81898163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593669,nssv1570340 M 6533 0 2 "" IS31904,IS39475 dgv1987e1 6 81870395 81891996 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv292,essv21148 M 271 0 0 "" NA12815 esv8292 6 81870456 81870522 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30733 S 1 1 0 "" SJK nsv886327 6 81877660 81991324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562496 S 6533 0 1 "" MS25617 dgv1055n67 6 81909507 81910618 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823761,nsv823762 M 31 0 3 "" AK16,AK2,NA18968 nsv5372 6 81969404 82014431 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8270 S 9 0 1 "" NA12156 nsv823763 6 82053642 82054148 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426652 S 31 0 1 "" NA18968 esv2148335 6 82084316 82084736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506207 S 1 0 1 "" NA18507 nsv886328 6 82093483 82177366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562290 S 6533 0 1 "" MS25486 esv34899 6 82147477 82217840 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987370,essv6978308,essv6989014 M 771 0 1 "" NA18998 dgv1988e1 6 82154779 82217840 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv615,esv966 M 271 0 0 "" NA18998 esv23107 6 82173939 82175261 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11974 S 451 0 1 "" NA19114 nsv818440 6 82177366 82190504 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416642 S 112 0 1 "" NA19116 essv2954 6 82180584 82217840 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv7935 6 82193230 82231687 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17033 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv442004 6 82203843 82228325 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv823765 6 82209629 82230848 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432909 S 31 0 1 "" NA18972 esv2624240 6 82231672 82241493 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264503 S 1 0 1 "" NA18507 esv27531 6 82232906 82234243 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19865 S 451 0 4 "" NA11993,NA18505,NA18916,NA19147 esv1227041 6 82234968 82235095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823196 S 2 0 1 "" HuRef esv274132 6 82354119 82354204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581334 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv517168 6 82375893 82382248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653914,nssv653969,nssv656482,nssv667234 M 2026 0 4 "" esv2618577 6 82405674 82406739 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384574 S 1 1 0 "" NA18507 nsv350073 6 82405997 82405997 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368651 M 24 "" esv1737388 6 82406007 82406007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592563 S 2 1 0 "" HuRef esv2604639 6 82442484 82444683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283634 S 1 0 1 "" NA18507 esv2382695 6 82442676 82444080 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4742674 S 1 0 1 "" NA18507 nsv507345 6 82494276 82500276 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622980,nssv617713 M 4 2 0 "" CHM,NA18994 esv1724874 6 82507412 82507467 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847320 S 2 0 1 "" HuRef esv996951 6 82532992 82535596 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564271 S 3 1 0 "" HuRef nsv830712 6 82547748 82711250 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445478 S 95 0 1 "" nsv524718 6 82685455 82688968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700703 S 2026 0 1 "" nsv830713 6 82817920 83010289 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445479 S 95 1 0 IBTK nsv527345 6 82850830 82854338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703772 S 2026 0 1 "" nsv830715 6 82863376 83013046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445482,nssv1445481,nssv1445480 M 95 0 3 IBTK nsv7937 6 82896954 83301507 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14625 S 31 0 1 Samples from several populations that are part of the HapMap project. IBTK,TPBG NA18537 nsv470837 6 82914093 82990028 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544700 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IBTK HGDP00903 nsv5373 6 83005633 83043434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9892,nssv6076,nssv4928,nssv3452,nssv10509,nssv563,nssv2601 M 9 7 0 IBTK NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv510926 6 83007046 83041054 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618652 S 4 0 0 IBTK CHM nsv509142 6 83016921 83041054 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620857,nssv619455,nssv623482 M 4 3 0 "" NA10860,NA15510,NA18994 esv1007261 6 83025705 83026117 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565137 S 3 1 0 "" HuRef esv1571796 6 83026393 83026393 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933355 S 2 1 0 "" HuRef esv2315632 6 83151182 83151618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699336 S 1 0 1 "" NA18507 nsv348668 6 83151393 83151444 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367246 M 24 "" nsv349254 6 83174028 83174095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367832 M 24 "" nsv830716 6 83272376 83437461 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445483 S 95 1 0 "" esv997279 6 83464441 83464441 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581360 S 3 1 0 "" HuRef esv1491151 6 83464445 83464445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019469 S 2 1 0 "" HuRef nsv830717 6 83480539 83633087 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445485 S 95 0 1 "" nsv525171 6 83502009 83504231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701247 S 2026 0 1 "" esv1257531 6 83558444 83558444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072000 S 2 1 0 "" HuRef esv1285305 6 83583264 83583353 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797711 S 2 0 1 "" HuRef nsv528433 6 83673241 83710421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705026 S 2026 0 1 UBE2CBP dgv387n21 6 83687310 83734272 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522981,nsv521925 M 2026 0 2 UBE2CBP esv1525166 6 83701385 83701385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730409 S 2 1 0 UBE2CBP HuRef esv2510248 6 83732395 83733811 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265847 S 1 0 1 UBE2CBP NA18507 esv2234898 6 83732608 83733288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538648 S 1 0 1 UBE2CBP NA18507 nsv886329 6 83863740 83906768 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506860 S 6533 0 1 DOPEY1 SP54409 esv1303011 6 84009877 84009945 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990300 S 2 0 1 ME1 HuRef esv1011019 6 84132671 84134997 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563869 S 3 1 0 ME1 HuRef nsv823766 6 84161644 84164821 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433263 S 31 1 0 ME1 NA18592 nsv518229 6 84285833 84290550 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695659 S 2026 0 1 PRSS35 esv996120 6 84286333 84286399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578466 S 3 0 1 PRSS35 HuRef nsv5374 6 84308454 84342860 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3454 S 9 1 0 SNAP91 NA12878 nsv886330 6 84416640 84651368 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531554,nssv1561401 M 6533 2 0 CYB5R4,RIPPLY2,SNAP91 MS10544,MS24970 nsv830718 6 84548248 84707785 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445486,nssv1445487 M 95 1 1 CYB5R4,RIPPLY2 nsv5375 6 84579279 84609348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2728 S 9 1 0 "" NA18555 nsv830719 6 84696656 84884292 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445488 S 95 1 0 CYB5R4,MRAP2 nsv886331 6 84707083 84849699 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520480 S 6533 1 0 CYB5R4,MRAP2 SP51087 nsv5377 6 84762867 84798376 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4929 S 9 0 1 "" NA19129 dgv1989e1 6 84790018 84853288 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11384,esv1293 M 271 0 0 MRAP2 NA19127 nsv499620 6 84791358 84795996 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585993 S 9 0 1 "" esv23375 6 84792336 84795946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19518 S 451 0 1 "" NA19129 essv14922 6 84792906 84825829 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MRAP2 NA19129 nsv7938 6 84801686 84805262 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15059 S 31 1 0 Samples from several populations that are part of the HapMap project. MRAP2 NA19173 nsv5378 6 84802417 84824462 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8271 S 9 0 1 MRAP2 NA12156 nsv519202 6 84934535 84939926 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696687 S 2026 0 1 KIAA1009 nsv5379 6 84940630 84977543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2602,nssv565 M 9 2 0 KIAA1009 NA18555,NA19240 esv2253878 6 85015368 85015721 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765022 S 1 0 1 "" NA18507 nsv886332 6 85105458 85137341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508471 S 6533 0 1 "" SP54666 esv269421 6 85111528 85111616 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525897,essv2542547,essv2522801,essv2545602,essv2519943,essv2536203 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11918,NA11919,NA11931,NA12003,NA12815 nsv525351 6 85115724 85117006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701470 S 2026 0 1 "" nsv830720 6 85135234 85359703 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445489 S 95 1 0 "" esv2632916 6 85276447 85278130 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361390 S 1 0 1 "" NA18507 esv2351647 6 85276913 85277901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845710 S 1 0 1 "" NA18507 esv269103 6 85354704 85355039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504006 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv5380 6 85355534 85406757 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4930,nssv3455,nssv566,nssv9695 M 9 0 4 "" NA12878,NA18507,NA19129,NA19240 nsv508419 6 85371697 85382283 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619977 S 4 0 1 "" NA15510 nsv510937 6 85371697 85390105 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618690,nssv624309 M 4 0 0 "" CHM,NA18994 esv2617217 6 85374079 85381584 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190592 S 1 0 1 "" NA18507 nsv511902 6 85374587 85381275 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624437 S 1 0 1 "" 1 dgv113n16 6 85374616 85381534 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435831,nsv436506 M 2 0 2 "" NA15510,NA18505 esv2016124 6 85374666 85381154 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676500 S 1 0 1 "" NA18507 dgv160e180 6 85374838 85380966 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006117,esv991968 M 3 0 1 "" HuRef esv3770 6 85374843 85381032 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26211 S 1 0 1 Single Asian sample YH "" YH nsv499770 6 85374862 85380948 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585994 S 9 0 1 "" esv1315602 6 85374870 85380947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819296 S 2 0 1 "" HuRef esv7372 6 85374876 85380948 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29813 S 1 0 1 "" SJK nsv5381 6 85734201 85767961 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv567 S 9 1 0 "" NA19240 nsv520873 6 85881042 85890923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676670,nssv678561,nssv703729 M 2026 0 3 "" esv270598 6 86004420 86006680 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508772,essv2500461,essv2503357,essv2497349,essv2499904,essv2507923,essv2506351,essv2494398,essv2507686,essv2512730,essv2508214,essv2508463,essv2510045,essv2511668,essv2503144,essv2497859,essv2503516,essv2512306,essv2505442,essv2500511,essv2503744,essv2495927,essv2500809,essv2512795 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA18532,NA18537,NA18542,NA18545,NA18562,NA18564,NA18566,NA18572,NA18576,NA18577,NA18579,NA18582,NA18593,NA18940,NA18943,NA18945,NA18947,NA18949,NA18952,NA18956,NA18960,NA18961,NA18973,NA18980 nsv830721 6 86044363 86204133 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445490 S 95 1 0 "" esv2605804 6 86082589 86084268 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218182 S 1 0 1 "" NA18507 esv2272188 6 86082888 86083576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545799 S 1 0 1 "" NA18507 esv4417 6 86082965 86083654 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26858 S 1 0 1 Single Asian sample YH "" YH nsv348714 6 86083085 86083399 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367292 M 24 "" esv5614 6 86083101 86083423 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28055 S 1 0 1 "" SJK esv8846 6 86094635 86094750 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31287 S 1 1 0 "" SJK nsv349880 6 86130456 86130456 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368458 M 24 "" nsv5382 6 86153116 86184836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4931 S 9 1 0 "" NA19129 esv2448290 6 86200432 86201822 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176771 S 1 0 1 "" NA18507 esv2302217 6 86200891 86201562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836048 S 1 0 1 "" NA18507 nsv520112 6 86201594 86304478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697229 S 2026 0 1 NT5E,SNX14 nsv886333 6 86255962 86346134 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578354,nssv1564004,nssv1558387,nssv1600983 M 6533 0 4 NT5E,SNX14 IS30143,IS34762,IS41955,MS23257 nsv463939 6 86262042 86336456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539954 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NT5E,SNX14 HGDP00208 nsv470839 6 86262042 86336456 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544701 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NT5E,SNX14 HGDP00461 nsv886334 6 86271226 86451122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599387 S 6533 0 1 SNHG5,SNORD50A,SNORD50B,SNX14,SYNCRIP IS41634 nsv516516 6 86291554 86335410 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679849,nssv669782,nssv687806,nssv699272,nssv668794,nssv678496,nssv684014,nssv677138 M 2026 1 7 SNX14 nsv5383 6 86359942 86404742 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8272 S 9 0 1 SNX14,SYNCRIP NA12156 nsv886335 6 86502370 86726080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564134 S 6533 0 1 "" IS30171 dgv388n21 6 86595437 86633573 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv515896,nsv526067 M 2026 0 53 "" nsv818441 6 86602842 86622662 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417871,nssv1417869 M 112 0 2 "" NA18852,NA18854 nsv522858 6 86607704 86635552 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698513 S 2026 1 0 "" nsv463940 6 86633573 86705155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539955 S 1557 0 1 "" 1780854039_A nsv470840 6 86646009 86706424 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544702 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01214 nsv519457 6 86646009 86706424 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701397,nssv662953,nssv656255 M 2026 2 1 "" esv1003310 6 86680140 86685026 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563456 S 3 0 1 "" HuRef nsv511903 6 86680490 86683452 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624438 S 1 0 1 "" 1 esv25701 6 86680559 86682553 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12301 S 451 0 18 "" NA06985,NA07037,NA11894,NA11931,NA12006,NA12239,NA12287,NA18505,NA18508,NA18523,NA18858,NA18916,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 esv1006148 6 86680644 86682553 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586212 S 3 0 1 "" HuRef nsv823767 6 86680848 86681619 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434465,nssv1437473,nssv1423450,nssv1432910,nssv1441111,nssv1426720,nssv1435133,nssv1426663,nssv1438200 M 31 0 9 "" AK6,NA18570,NA18942,NA18949,NA18951,NA18968,NA18969,NA18972,NA18999 dgv1056n67 6 86680848 86688670 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823769,nsv823770,nsv823768 M 31 0 5 "" AK16,AK18,NA18542,NA18947,NA18997 esv994504 6 86680848 86688670 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587008 S 3 0 1 "" HuRef nsv5384 6 86740760 86784643 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9696,nssv6077,nssv2603,nssv4932,nssv9431,nssv568,nssv3456 M 9 0 7 "" NA12156,NA12878,NA18507,NA18517,NA18555,NA19129,NA19240 nsv508420 6 86758270 86808592 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618793,nssv622554,nssv617525,nssv619978 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1004787 6 86764364 86771972 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565823 S 3 0 1 "" HuRef esv2506094 6 86764469 86771818 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332316 S 1 0 1 "" NA18507 nsv436510 6 86765135 86772585 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466304 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv511904 6 86765291 86771515 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624439 S 1 0 1 "" 1 esv1120438 6 86765473 86771525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159963 S 2 0 1 "" HuRef dgv51n47 6 86765854 86771540 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499511,nsv499518 M 9 0 2 "" nsv463943 6 87001318 87032869 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539956 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00696 nsv470841 6 87001318 87044417 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544703 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00696 nsv517050 6 87132204 87134894 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676564,nssv674067,nssv672008,nssv653691 M 2026 0 4 "" nsv524426 6 87132204 87146255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700353 S 2026 0 1 "" esv24183 6 87165718 87170737 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19343 S 451 0 1 "" NA19240 nsv528682 6 87166330 87169891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705324 S 2026 0 1 "" esv270780 6 87202417 87202661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500175,essv2503099,essv2511071,essv2506492,essv2498969 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12006,NA18943,NA18944,NA19108,NA19114 nsv521531 6 87395345 87397358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698148 S 2026 0 1 "" esv28300 6 87403686 87408451 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20458 S 451 0 1 "" NA11931 esv2571646 6 87455616 87474367 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385615 S 1 0 1 "" NA18507 esv2561959 6 87462652 87475691 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376444 S 1 0 1 "" NA18507 esv2039539 6 87462743 87474754 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841557 S 1 0 1 "" NA18507 nsv437516 6 87462864 87482807 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467397 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19139 nsv7939 6 87462897 87475341 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16671 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 esv22432 6 87463076 87474560 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10205 S 451 0 1 "" NA11993 esv2421937 6 87463359 87469692 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5032532,essv5023974,essv5035699,essv5120635,essv5139914,essv5062054,essv5040982,essv5091825,essv5158689,essv5110719,essv5049038,essv5120681,essv5075574,essv5042577,essv5014403,essv5142198,essv5019235,essv5147395,essv5144819,essv5087628,essv5158821,essv5048684,essv5056665,essv5025993,essv5100787,essv5134721,essv5005677,essv5046527,essv5160119,essv5050048,essv5132549,essv5105580,essv5121423 M 1184 0 33 "" NA11993,NA18506,NA18507,NA18520,NA18859,NA18860,NA19044,NA19116,NA19138,NA19139,NA19141,NA19142,NA19257,NA19258,NA19315,NA19346,NA19383,NA19449,NA19456,NA19463,NA19700,NA19702,NA19712,NA21295,NA21384,NA21386,NA21388,NA21434,NA21476,NA21477,NA21509,NA21597,NA21768 nsv515907 6 87464993 87465098 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691197,nssv657541,nssv673723,nssv683149,nssv693919,nssv691429,nssv690354,nssv686116,nssv684057,nssv683965,nssv669326,nssv687337,nssv652286,nssv676062,nssv662031,nssv668064,nssv660914,nssv671595,nssv670054,nssv677542,nssv666403,nssv679743,nssv692179,nssv651752,nssv675551,nssv685387,nssv661028,nssv659788,nssv676946,nssv682361,nssv689276,nssv683812,nssv673807,nssv655572 M 2026 0 34 "" nsv442994 6 87466524 87467835 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514379 6 87466912 87467520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627831 S 1414 0 1 "" dgv1990e1 6 87513222 87701933 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20285,essv22237,essv17714,essv12704,essv4389,essv22541,essv23186,essv21705,essv15206,essv11674,essv23982,essv8742,essv19418,essv13143,essv19895,essv14118,essv21126,essv17835,essv19100,essv15006,essv19490,essv24990,essv19174,essv683,essv15654,essv5799,esv361,essv22753,essv1959,essv17466,essv23031,essv15525 M 271 0 0 "" NA07019,NA07055,NA07348,NA10831,NA10839,NA11840,NA12043,NA12044,NA12144,NA12156,NA12248,NA12716,NA12812,NA12813,NA12815,NA12864,NA12865,NA12872,NA18505,NA18566,NA18573,NA18861,NA18870,NA18912,NA18914,NA18959,NA18975,NA19092,NA19094,NA19102,NA19154 nsv520489 6 87554494 87602499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697449 S 2026 0 1 "" nsv7940 6 87619165 87642839 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15789 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 esv267623 6 87735328 87735667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546435,essv2556495,essv2523357,essv2525533,essv2550407,essv2570158,essv2553475,essv2533689,essv2533328,essv2554596 M 157 10 0 Samples from several populations that are part of the HapMap project. HTR1E NA07051,NA07346,NA11881,NA11994,NA12004,NA12156,NA12234,NA18593,NA18605,NA18944 esv2444959 6 87779866 87781565 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167504 S 1 0 1 HTR1E NA18507 nsv5385 6 87837734 87860382 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8273 S 9 0 1 CGA NA12156 esv1002835 6 87848943 87857346 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564434 S 3 0 1 CGA HuRef dgv1991e1 6 87874602 88049676 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv463,essv16408 M 271 0 0 GJB7,ZNF292 NA19139 esv2623459 6 87893307 87896059 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309804 S 1 0 1 "" NA18507 esv1194692 6 87894622 87894622 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233516 S 2 1 0 "" HuRef nsv349705 6 87895090 87895174 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368283 M 24 "" esv268184 6 87981558 87981857 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498525,essv2507138,essv2513430,essv2504779 M 157 4 0 Samples from several populations that are part of the HapMap project. ZNF292 NA18858,NA18870,NA18907,NA19099 nsv507346 6 88077424 88083424 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620348,nssv621849,nssv622981 M 4 3 0 GJB7 NA10860,NA15510,NA18994 nsv349083 6 88089469 88089555 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367661 M 24 C6orf162,GJB7 nsv823771 6 88089481 88096166 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432104 S 31 0 1 C6orf162,GJB7 AK20 nsv5386 6 88095270 88101640 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8274 S 9 0 1 C6orf162,GJB7 NA12156 nsv830722 6 88110905 88280344 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445493,nssv1445492,nssv1445491,nssv1445494,nssv1445497,nssv1445496 M 95 6 0 C6orf163,C6orf164,C6orf165,SLC35A1 esv994317 6 88170388 88176378 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565787 S 3 1 0 C6orf165 HuRef esv274347 6 88174074 88175561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579381,essv2579691 M 7 2 0 Samples from several populations that are part of the HapMap project. C6orf165 NA19239,NA19240 esv1979464 6 88174702 88175219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986212 S 1 0 1 C6orf165 NA18507 esv1288596 6 88174914 88175047 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030252 S 2 0 1 C6orf165 HuRef nsv511905 6 88340964 88344397 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624440 S 1 0 1 RARS2 1 esv2569279 6 88341641 88343378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278246 S 1 0 1 RARS2 NA18507 esv2283561 6 88342345 88343051 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675163 S 1 0 1 RARS2 NA18507 esv6087 6 88342507 88342954 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28528 S 1 0 1 RARS2 SJK dgv1992e1 6 88415707 88498192 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22906,essv22664,esv44,essv18741 M 271 0 0 AKIRIN2,AKIRIN2-AS1,ORC3 NA12752,NA12760,NA12874 nsv7941 6 88460274 88470314 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17063 S 31 1 0 Samples from several populations that are part of the HapMap project. AKIRIN2,AKIRIN2-AS1 NA18972 esv1613963 6 88517429 88517479 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770347 S 2 0 1 "" HuRef esv259634 6 88635703 88635961 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394243 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv989988 6 88708028 88708099 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575134 S 3 0 1 "" HuRef nsv5388 6 88740334 88774559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3457 S 9 1 0 "" NA12878 esv270082 6 88754765 88755097 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515469,essv2516371,essv2515573,essv2517760,essv2519035,essv2513774,essv2519340 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12249,NA12814,NA12815,NA12878,NA19141,NA19143 esv273402 6 88754765 88755097 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581378 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv29666 6 88787900 88789393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12484 S 451 0 1 "" NA19108 esv8747 6 88791347 88791408 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31188 S 1 1 0 "" SJK nsv511353 6 88854416 88860318 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625822 S 1 0 1 "" 1 nsv511906 6 88857141 88859316 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624441 S 1 0 1 "" 1 nsv823772 6 88857833 88859118 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425029,nssv1428333 M 31 0 2 "" AK10,AK2 esv8431 6 88857856 88859136 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30872 S 1 0 1 "" SJK esv22723 6 88857912 88859176 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13580 S 451 0 6 "" NA18502,NA18517,NA18523,NA19099,NA19114,NA19240 dgv775n27 6 88898873 88918417 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463945,nsv463944 M 1557 2 0 CNR1 HGDP00033,HGDP00726 nsv519365 6 88898873 88918417 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655820,nssv672540,nssv677824,nssv655655,nssv663742 M 2026 5 0 CNR1 nsv830723 6 88922418 88986995 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445498 S 95 0 1 CNR1 nsv5389 6 89003119 89036538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3458 S 9 1 0 "" NA12878 esv2500681 6 89090449 89091988 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214146 S 1 0 1 "" NA18507 dgv1993e1 6 89147456 89318637 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv45,essv834,essv5159,esv139,essv2519,essv5086 M 271 0 0 "" NA18564,NA18577,NA18973,NA18991,NA19003 nsv518278 6 89209198 89219718 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695709 S 2026 1 0 "" nsv510040 6 89275876 89281876 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618240,nssv622121 M 4 0 2 "" CHM,NA10860 esv24519 6 89332775 89333225 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15072 S 451 0 1 "" NA19099 nsv5390 6 89380083 89426690 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6078 S 9 0 1 RNGTT NA12156 esv270881 6 89453302 89453451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496863,essv2504072,essv2493782,essv2505353,essv2504855,essv2497588 M 157 6 0 Samples from several populations that are part of the HapMap project. RNGTT NA18498,NA18505,NA18517,NA18853,NA19099,NA19147 esv2000290 6 89480679 89481273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776528 S 1 0 1 RNGTT NA18507 nsv528054 6 89483947 89489081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704587 S 2026 0 1 RNGTT esv2576850 6 89514656 89516069 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266116 S 1 0 1 RNGTT NA18507 esv22257 6 89547943 89548925 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20663 S 451 0 1 RNGTT NA19108 esv2458928 6 89558787 89560278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166384 S 1 0 1 RNGTT NA18507 esv270730 6 89623573 89623884 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516100 S 157 1 0 Samples from several populations that are part of the HapMap project. RNGTT NA12873 nsv507347 6 89794470 89800470 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621850 S 4 1 0 "" NA10860 nsv818442 6 89811469 89816359 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418001 S 112 1 0 "" NA07345 nsv886336 6 89816359 89911155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568988 S 6533 0 1 PNRC1,SRSF12 IS31385 nsv886337 6 89829334 89961591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552764 S 6533 0 1 GABRR1,PM20D2,PNRC1,SRSF12 MS19630 esv23341 6 89898669 89903662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19742 S 451 0 3 "" NA18858,NA19190,NA19240 esv2479057 6 89978111 89979640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5362772 S 1 0 1 GABRR1 NA18507 esv2400913 6 89978290 89979085 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848543 S 1 0 1 GABRR1 NA18507 esv29539 6 89978350 89978942 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11067 S 451 2 1 GABRR1 NA12878,NA18508,NA18916 esv997828 6 89978350 89978942 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586208 S 3 1 0 GABRR1 HuRef esv3265 6 89978438 89978964 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25706 S 1 0 1 Single Asian sample YH GABRR1 YH esv9656 6 89978467 89978896 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32097 S 1 0 1 GABRR1 SJK esv2539853 6 89979710 89980759 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210023 S 1 0 0 GABRR1 NA18507 esv5895 6 89980352 89980492 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28336 S 1 0 0 GABRR1 SJK esv1605831 6 89980353 89980661 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011312 S 2 0 0 GABRR1 HuRef esv1009113 6 90021988 90030667 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564844 S 3 0 1 GABRR2 HuRef esv995301 6 90039564 90043717 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564445 S 3 0 1 GABRR2 HuRef nsv527444 6 90051670 90056015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703885 S 2026 0 1 GABRR2 nsv521230 6 90053124 90056015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689928,nssv686560 M 2026 0 2 GABRR2 nsv526732 6 90053124 90062644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703073 S 2026 0 1 GABRR2 esv27467 6 90118998 90119623 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17959 S 451 0 1 UBE2J1 NA07045 nsv526829 6 90177710 90184109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703186 S 2026 0 1 RRAGD nsv886338 6 90197283 90274825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554444 S 6533 0 1 ANKRD6 MS20813 nsv886339 6 90383081 90427923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556046 S 6533 0 1 ANKRD6,LYRM2,MDN1 MS21771 nsv886340 6 90383081 90647053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574933 S 6533 0 1 ANKRD6,CASP8AP2,LYRM2,MDN1 IS33669 esv999488 6 90561105 90571228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564381 S 3 0 1 MDN1 HuRef nsv5391 6 90603477 90635640 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4933 S 9 1 0 CASP8AP2 NA19129 esv997597 6 90637207 90641546 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565080 S 3 1 0 CASP8AP2 HuRef nsv512888 6 90638550 90638833 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625532 S 1 1 0 CASP8AP2 1 nsv525515 6 90687853 90691837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701648 S 2026 0 1 "" esv273328 6 90786981 90787327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580916,essv2579687 M 7 2 0 Samples from several populations that are part of the HapMap project. BACH2 NA19238,NA19240 esv268972 6 90786982 90787288 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510133,essv2511473,essv2507970,essv2505539,essv2495338,essv2511713,essv2504257,essv2503034,essv2511927,essv2498110 M 157 10 0 Samples from several populations that are part of the HapMap project. BACH2 NA11829,NA11920,NA12003,NA12154,NA12287,NA18499,NA18505,NA18507,NA19238,NA19240 esv275360 6 90812608 90818631 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585462,essv2585514 M 1250 1 1 BACH2 esv270781 6 91009695 91009780 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517987 S 157 1 0 Samples from several populations that are part of the HapMap project. BACH2 NA12872 esv2499312 6 91020212 91021770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210692 S 1 0 1 BACH2 NA18507 esv28039 6 91061814 91063564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13741 S 451 0 1 BACH2 NA07045 nsv507348 6 91064550 91070550 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621851 S 4 1 0 "" NA10860 nsv523939 6 91124344 91847214 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699785 S 2026 1 0 MAP3K7 esv271266 6 91134224 91134376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493717,essv2506673,essv2497105,essv2499826,essv2502057 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA19108,NA19190,NA19225,NA19257 nsv5392 6 91181892 91227487 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6079 S 9 0 1 "" NA12156 esv272098 6 91182552 91182637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516667,essv2518708,essv2518528,essv2516377,essv2515997,essv2518332 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12045,NA12287,NA12814,NA12873,NA19240 esv273064 6 91182552 91182637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581431 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv272322 6 91189842 91190119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580522,essv2579808 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267644 6 91189845 91190144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510570,essv2496390,essv2509090,essv2505294,essv2501059,essv2498445,essv2507425,essv2510479,essv2497006,essv2493891,essv2512055,essv2498090 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18510,NA18522,NA18853,NA18856,NA18858,NA18912,NA19172,NA19190,NA19210,NA19238,NA19240 esv2449643 6 91293783 91295349 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169343 S 1 0 1 MAP3K7 NA18507 esv1987764 6 91294121 91294806 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645461 S 1 0 1 MAP3K7 NA18507 esv3668 6 91294130 91294743 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26109 S 1 0 1 Single Asian sample YH MAP3K7 YH esv992475 6 91294303 91294623 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585798 S 3 0 1 MAP3K7 HuRef esv5848 6 91294310 91294615 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28289 S 1 0 1 MAP3K7 SJK esv1333350 6 91294311 91294632 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956584 S 2 0 1 MAP3K7 HuRef nsv520901 6 91402622 91403386 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677249,nssv678624 M 2026 0 2 "" esv27241 6 91415539 91417045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16606 S 451 0 1 "" NA19225 nsv886341 6 91433299 91483683 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557072 S 6533 0 1 "" MS22353 nsv527300 6 91451780 91466661 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703718 S 2026 0 1 "" nsv830724 6 91465374 91628193 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445503,nssv1445504,nssv1445501,nssv1445502,nssv1445500,nssv1445499 M 95 6 0 "" nsv5393 6 91488201 91521891 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3459 S 9 1 0 "" NA12878 esv273334 6 91576759 91577111 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579264 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv509143 6 91726150 91737528 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619456,nssv618054 M 4 2 0 "" CHM,NA10860 esv2624657 6 91728671 91731862 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338645 S 1 0 1 "" NA18507 esv1791114 6 91730605 91730605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191225 S 2 1 0 "" HuRef esv1016711 6 91730729 91730729 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166625 S 2 1 0 "" HuRef nsv508421 6 91763898 91768857 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619979 S 4 0 1 "" NA15510 nsv463946 6 91767593 91826328 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539959 S 1557 0 1 "" 1780862014_A esv2752130 6 91797168 92253200 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984154,essv6987510,essv6988763 M 771 1 0 "" BEC_789 nsv830726 6 91807413 91978559 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445505 S 95 1 0 "" esv2422475 6 91875229 92055469 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161407 S 181 0 1 "" ND00745 esv272103 6 91937220 91937379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504574,essv2512738 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA18577 esv268277 6 91944563 91944727 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514532 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv523380 6 91971586 91999464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699129 S 2026 0 1 "" nsv830727 6 92045101 92212302 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445507 S 95 0 1 "" nsv519150 6 92052457 92174498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696627 S 2026 0 1 "" esv2752131 6 92061024 92158424 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982625,essv6989659 M 771 0 1 "" BEC_572 nsv463947 6 92071511 92124447 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539960 S 1557 0 1 "" 1780854009_A nsv527394 6 92118422 92124447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703829 S 2026 0 1 "" esv1548909 6 92237601 92237876 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858682 S 2 0 1 "" HuRef nsv886342 6 92257274 92311341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569085 S 6533 0 1 MIR4643 IS31419 esv269298 6 92271938 92272069 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506043,essv2498989 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19114 esv273526 6 92355009 92355282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580654 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv823773 6 92402416 92404450 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427076 S 31 0 1 "" NA18947 nsv517922 6 92421807 92427399 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695333 S 2026 1 0 "" nsv521262 6 92427399 92433073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689437,nssv693359 M 2026 0 2 "" nsv823774 6 92493266 92493749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427535 S 31 0 1 "" AK8 esv7194 6 92598817 92598893 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29635 S 1 1 0 "" SJK nsv349415 6 92617131 92617190 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367993 M 24 "" nsv830728 6 92621100 92842643 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445509,nssv1445508 M 95 0 2 "" nsv528633 6 92658357 93257354 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705263 S 2026 1 0 "" nsv886343 6 92708674 92806895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542836 S 6533 1 0 "" MS15916 nsv830729 6 92712464 92914768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445510 S 95 1 0 "" nsv886344 6 92785837 92876600 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579835 S 6533 0 1 "" IS35181 nsv463948 6 92808789 92830499 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539961 S 1557 0 1 "" 1780854538_A nsv5394 6 92817123 92861846 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8275 S 9 0 1 "" NA12156 nsv463952 6 92830499 92880688 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539965 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00543 esv2612178 6 92862879 92864385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385815 S 1 0 1 "" NA18507 esv2186297 6 92864539 92865218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4856642 S 1 0 1 "" NA18507 esv3013 6 92864679 92865392 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25454 S 1 0 1 Single Asian sample YH "" YH esv1229928 6 92864731 92865057 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188330 S 2 0 1 "" HuRef esv6065 6 92864734 92865043 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28506 S 1 0 1 "" SJK nsv830730 6 92937714 93108184 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445511 S 95 1 0 "" esv3188 6 92967282 92967813 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25629 S 1 0 1 Single Asian sample YH "" YH esv269153 6 92991975 92992243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514483 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv463953 6 93005185 93029963 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539966 S 1557 0 1 "" 1780862574_A nsv830731 6 93020175 93263897 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445514,nssv1445513,nssv1445512 M 95 3 0 "" nsv525866 6 93021332 93021725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702064 S 2026 0 1 "" dgv6933n71 6 93036788 93174813 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886348,nsv886345 M 6533 0 2 "" IS39718,MS15199 nsv886346 6 93068872 93127736 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535072 S 6533 1 0 "" MS12003 nsv886347 6 93068872 93136680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579297 S 6533 0 1 "" IS35083 esv271873 6 93089448 93089774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544857,essv2563069,essv2538255,essv2540497,essv2539723,essv2549361,essv2519923,essv2528722,essv2570327,essv2553437,essv2578278,essv2567242,essv2566389,essv2527586,essv2573640,essv2576926 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18532,NA18547,NA18552,NA18563,NA18564,NA18566,NA18579,NA18593,NA18605,NA18940,NA18947,NA18948,NA18952,NA18964,NA18970 dgv6934n71 6 93100879 93201586 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886349,nsv886352,nsv886353 M 6533 0 3 "" IS31335,IS36722,IS39011 dgv6935n71 6 93107711 93158360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886350,nsv886351 M 6533 0 2 "" IS33533,MS13154 nsv463957 6 93110300 93136680 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539967 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00019 nsv818443 6 93122057 93207521 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418276 S 112 1 0 "" NA19093 dgv1994e1 6 93127736 93161367 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv949,essv8394 M 271 0 0 "" NA19093 nsv524434 6 93130146 93207521 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700361 S 2026 1 0 "" dgv776n27 6 93156627 93196637 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463959,nsv463958 M 1557 0 2 "" 1780854495_A,HGDP00948 nsv886354 6 93184674 93256445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534288 S 6533 1 0 "" MS11522 nsv519355 6 93223487 93228784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696808 S 2026 0 1 "" nsv886355 6 93223487 93587478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550826 S 6533 0 1 "" MS18620 nsv886356 6 93236345 93350024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541157 S 6533 0 1 "" MS15199 nsv517329 6 93305064 95581148 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665911,nssv666928,nssv693301,nssv690170,nssv656663,nssv663364,nssv661209,nssv662939,nssv662062,nssv676089,nssv666486,nssv692352,nssv667368,nssv671557,nssv680310,nssv689525,nssv660636,nssv684445,nssv658002,nssv692085,nssv677250,nssv680074,nssv692952,nssv653585,nssv681133,nssv681628,nssv693672,nssv665278,nssv676947,nssv655158,nssv662157,nssv690692,nssv689774,nssv658726,nssv673213,nssv689773,nssv692133,nssv666085,nssv684412,nssv686242,nssv684655,nssv679031,nssv670425,nssv654143,nssv654234,nssv669675,nssv673497,nssv686253,nssv672643,nssv677107,nssv698035,nssv653047,nssv687418,nssv682457,nssv677332,nssv675680,nssv693505,nssv678156,nssv653195,nssv660042,nssv683150,nssv682098,nssv655798,nssv673441,nssv674423,nssv654486,nssv671688,nssv666485,nssv694564,nssv689221,nssv664325,nssv685969,nssv687036,nssv666835,nssv661643,nssv675552,nssv669202,nssv652585,nssv656292,nssv686653,nssv670055,nssv679450,nssv663267,nssv664764,nssv689005,nssv674037,nssv663292,nssv687654,nssv658133,nssv666184,nssv685004,nssv656711,nssv688895,nssv658902,nssv686883,nssv684374,nssv678058,nssv686769,nssv658462,nssv659342,nssv663713,nssv668026,nssv660852,nssv673975,nssv700819,nssv663960,nssv652911,nssv654654,nssv673738,nssv677108,nssv677139,nssv654299,nssv689222,nssv668027,nssv658646,nssv688622,nssv697264,nssv661946,nssv672271,nssv659998,nssv671629,nssv682425,nssv680577,nssv652184,nssv682004,nssv683247,nssv660378,nssv673883,nssv680362,nssv667476,nssv673412,nssv691660,nssv686473,nssv656985,nssv659642,nssv684722,nssv674462,nssv678084,nssv689026,nssv683629,nssv665620,nssv654596,nssv693584,nssv673724,nssv685107,nssv687601,nssv685317,nssv667130,nssv666883,nssv700673,nssv695626,nssv657626,nssv671481,nssv677742,nssv661430,nssv679330,nssv658079,nssv675454,nssv685567,nssv653127,nssv663589,nssv656555,nssv657087,nssv670128,nssv686319,nssv699707,nssv674618,nssv681859,nssv679099,nssv680441,nssv653831,nssv694298,nssv671596,nssv660697,nssv666528,nssv664014,nssv703111,nssv681613,nssv696610,nssv688941,nssv674577,nssv662779,nssv656815,nssv666223,nssv698301,nssv664069,nssv674443,nssv663092,nssv652149,nssv663012,nssv670379,nssv695655,nssv663906,nssv667413,nssv657304,nssv676671,nssv654022,nssv683813,nssv655953,nssv659789,nssv671158,nssv670664,nssv678977,nssv683455,nssv696389,nssv658270,nssv680564,nssv690618,nssv661087,nssv657431,nssv661700,nssv684702,nssv661502,nssv679411,nssv652606,nssv691430,nssv684915,nssv679603,nssv687506,nssv682893,nssv688670,nssv680474,nssv661479,nssv665920,nssv659027,nssv671245,nssv666424,nssv660280,nssv657446,nssv673036,nssv681540,nssv656870,nssv653801,nssv683601,nssv678022,nssv686192,nssv654737,nssv663961,nssv667984,nssv659118,nssv671726 M 2026 2 239 EPHA7,TSG1 nsv886357 6 93331305 93405563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559174 S 6533 0 1 "" MS23768 esv993467 6 93379136 93380010 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565346 S 3 1 0 "" HuRef nsv886358 6 93435690 93481618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515495 S 6533 1 0 "" SP56207 nsv428150 6 93466189 93643999 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450806 S 62 0 1 "" HGDP01087 nsv5395 6 93554800 93588378 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv569 S 9 1 0 "" NA19240 nsv463960 6 93569046 93627153 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539970 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01336 esv2235355 6 93581067 93581682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731456 S 1 0 1 "" NA18507 esv999653 6 93581263 93581477 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579326 S 3 0 1 "" HuRef esv8932 6 93581273 93581491 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31373 S 1 0 1 "" SJK esv1444194 6 93581274 93581489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623479 S 2 0 1 "" HuRef nsv349206 6 93581275 93581489 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367784 M 24 "" nsv470842 6 93587478 93672171 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544705,nssv544704,nssv544706 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00452,HGDP00459,HGDP00469 nsv463961 6 93599999 93664414 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539971 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00469 dgv777n27 6 93620314 93632743 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463963,nsv463964,nsv463965 M 1557 0 3 "" 1780862456_A,1780862466_A,NINDS_125 nsv463966 6 93628802 93635080 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539976 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 nsv463967 6 93628802 93672171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539977 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00459 dgv124n17 6 93630617 93639259 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437517,nsv437518 M 60 0 2 "" NA19120,NA19208 nsv7942 6 93630862 93638899 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16182,nssv16573,nssv16707 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA19132 esv26434 6 93631502 93635657 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12221 S 451 0 6 "" NA11993,NA12489,NA18502,NA18508,NA18511,NA19190 dgv778n27 6 93631870 93635080 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463968,nsv463969 M 1557 0 2 "" HGDP00462,HGDP01408 nsv818446 6 93631870 93635080 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418277,nssv1418278,nssv1416643,nssv1418464,nssv1416843,nssv1415843,nssv1416356,nssv1416644,nssv1416741,nssv1418463,nssv1415842 M 112 0 11 "" NA10860,NA11993,NA18855,NA19093,NA19094,NA19116,NA19120,NA19159,NA19192,NA19193,NA19238 esv2421433 6 93631870 93635351 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5148864,essv5119951,essv5094563,essv5133951,essv5030374,essv5084423,essv5099731,essv5160811,essv5134154,essv5060692,essv5135262,essv5063670,essv5065933,essv5034556,essv5068352,essv5022513,essv5054124,essv5091450,essv5066708,essv5046220,essv5123776,essv5115882,essv5096379,essv5068045,essv5015261,essv5045348,essv5107982,essv5009758,essv5068568,essv5022889,essv5063863,essv5145830,essv5067586,essv5028083,essv5012058,essv5126774,essv5112264,essv5098391,essv5005623,essv5091474,essv5082872,essv5047998,essv5084545,essv5063542,essv5155823,essv5127875,essv5031177,essv5030477,essv5158265,essv5083490,essv5140222,essv5041548,essv5157242,essv5052074,essv5071146,essv5037531,essv5003040,essv5125426,essv5112898,essv5060748,essv5082775,essv5040951,essv5093351,essv5014029,essv5121832,essv5006079,essv5153055,essv5101276,essv5147276,essv5135003,essv5145506,essv5132113,essv5077972,essv5087953,essv5118436,essv5029586,essv5053856,essv5031214,essv5122340,essv5020138,essv5002540,essv5027554,essv5099387,essv5065902,essv5058386,essv5040703,essv5045917,essv5047296,essv5149224,essv5005099,essv5028076,essv5043615,essv5046073,essv5096155,essv5100317,essv5052706,essv5054186,essv5124147,essv5138300,essv5088712,essv5045254,essv5141966,essv5149581,essv5064806,essv5113477,essv5038551,essv5130323,essv5035642,essv5043134,essv5014628,essv5145950,essv5074527,essv5145622,essv5127260,essv5056457,essv5036312,essv5132994,essv5086946,essv5035611,essv5052941,essv5019009,essv5086669,essv5038536,essv5143584,essv5118287,essv5155052,essv5026421,essv5110140,essv5014526,essv5130928,essv5040239,essv5087932,essv5033864,essv5125678,essv5088914,essv5074260,essv5040730,essv5108899,essv5077212,essv5153836,essv5101835,essv5096482,essv5042269,essv5049781,essv5160826,essv5026258,essv5110021,essv5121617,essv5104224,essv5067737,essv5005962,essv5117219,essv5118715,essv5074284,essv5099407,essv5145014,essv5065433,essv5122988,essv5129859,essv5078920,essv5103998,essv5076895,essv5142824,essv5114994,essv5121186,essv5097614,essv5086602,essv5023607 M 1184 0 168 "" NA11993,NA18484,NA18486,NA18488,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18508,NA18509,NA18510,NA18511,NA18518,NA18520,NA18855,NA18910,NA18911,NA18923,NA18925,NA19027,NA19044,NA19046,NA19093,NA19094,NA19095,NA19102,NA19103,NA19116,NA19117,NA19120,NA19131,NA19132,NA19149,NA19151,NA19152,NA19154,NA19159,NA19181,NA19182,NA19183,NA19190,NA19191,NA19192,NA19193,NA19201,NA19202,NA19203,NA19206,NA19208,NA19210,NA19211,NA19213,NA19214,NA19215,NA19235,NA19238,NA19247,NA19249,NA19257,NA19258,NA19307,NA19311,NA19313,NA19315,NA19317,NA19327,NA19346,NA19360,NA19372,NA19374,NA19376,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19399,NA19429,NA19439,NA19444,NA19449,NA19452,NA19456,NA19463,NA19466,NA19469,NA19470,NA19471,NA19472,NA19473,NA19700,NA19702,NA19704,NA19705,NA19746,NA19834,NA19836,NA19904,NA19921,NA20277,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20317,NA20319,NA20347,NA20356,NA20357,NA20358,NA21295,NA21297,NA21307,NA21314,NA21360,NA21361,NA21365,NA21366,NA21367,NA21381,NA21383,NA21387,NA21388,NA21389,NA21400,NA21403,NA21408,NA21423,NA21434,NA21435,NA21438,NA21439,NA21447,NA21457,NA21479,NA21493,NA21494,NA21509,NA21510,NA21521,NA21523,NA21573,NA21577,NA21596,NA21613,NA21617,NA21631,NA21632,NA21678,NA21683,NA21685,NA21686,NA21689,NA21738,NA21740,NA21768,NA21784,NA21826 nsv437975 6 93632502 93635080 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468817,nssv468815,nssv468816,nssv468814 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA19116,NA19120,NA19206,NA19208 nsv442995 6 93632587 93635351 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514380 6 93632616 93634944 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627832 S 1414 0 1 "" esv270134 6 93632831 93633169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557788,essv2541041,essv2546586,essv2521148,essv2526057,essv2536748,essv2522891,essv2556777,essv2545457,essv2531682,essv2577374,essv2548586,essv2521735,essv2576598,essv2535048,essv2554149,essv2544392,essv2551965,essv2547387,essv2529138,essv2558323,essv2564327,essv2576328,essv2563946,essv2562038,essv2537275,essv2528451,essv2546804,essv2561429,essv2544974,essv2563089,essv2523551,essv2552792,essv2541347,essv2538416,essv2542860,essv2540670,essv2524571,essv2565061,essv2534803,essv2561208,essv2539566,essv2549331,essv2519926,essv2559857,essv2522084,essv2530990,essv2532825,essv2568044,essv2528905,essv2567490,essv2541784,essv2570333,essv2563692,essv2553173,essv2535662,essv2572513,essv2559355,essv2566759,essv2568916,essv2578184,essv2573008,essv2555295,essv2533452,essv2555732,essv2567037,essv2566421,essv2529947,essv2573868,essv2527496,essv2557671,essv2555947,essv2522588,essv2531333,essv2573723,essv2543209,essv2573311,essv2525674,essv2526839,essv2560708,essv2568758,essv2571442,essv2574538,essv2536036,essv2537913,essv2533239,essv2554517,essv2525175 M 157 88 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07357,NA10851,NA11831,NA11881,NA11894,NA11918,NA11920,NA11931,NA11994,NA12003,NA12006,NA12043,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12814,NA12828,NA12874,NA12878,NA12891,NA12892,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18861,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA18969,NA18980,NA19005,NA19116,NA19147,NA19238,NA19240 esv272647 6 93632831 93633169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581733,essv2582348,essv2582985,essv2584089,essv2583645 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 dgv1995e1 6 93634138 93728395 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1260,essv1000 M 271 0 0 "" NA18964 dgv6936n71 6 93641005 93697269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886359,nsv886360 M 6533 0 2 "" IS31563,IS36219 esv21737 6 93652987 93656042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18673 S 451 0 1 "" NA19108 nsv5396 6 93709920 93754828 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8276 S 9 0 1 "" NA12156 esv34066 6 93756160 93813655 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv348523 6 93877505 93880085 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367101 M 24 "" nsv470843 6 93883394 93906105 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544707 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00877 esv2023191 6 93891499 93891911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588481 S 1 0 1 "" NA18507 nsv348778 6 93891671 93891731 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367356 M 24 "" esv274073 6 93909879 93909964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581199 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv463970 6 93977371 93999838 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539980 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00005 dgv6937n71 6 93989355 94065256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886362,nsv886366,nsv886361 M 6533 0 3 EPHA7 IS40067,MS17114,MS20872 dgv6938n71 6 93989355 94132168 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886364,nsv886363,nsv886365 M 6533 0 3 EPHA7 IS41043,MS18847,MS18978 nsv463971 6 93998582 94146797 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539981 S 1557 1 0 EPHA7 1780862401_A nsv470844 6 94016082 94108633 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544708 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EPHA7 HGDP00876 nsv507349 6 94057878 94063878 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620349,nssv622982,nssv621852,nssv617714 M 4 4 0 EPHA7 CHM,NA10860,NA15510,NA18994 esv2429821 6 94059068 94060561 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231148 S 1 0 1 EPHA7 NA18507 nsv830732 6 94217351 94366652 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445515 S 95 0 1 "" nsv886367 6 94218919 94404759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551023 S 6533 0 1 "" MS18742 nsv510041 6 94301903 94307903 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624009,nssv622122,nssv618241 M 4 0 3 "" CHM,NA10860,NA18994 nsv886368 6 94302825 94628747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564071 S 6533 0 1 TSG1 IS30152 esv268156 6 94320674 94323537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511763,essv2496425,essv2501207,essv2499257,essv2505338,essv2498417,essv2505794,essv2501306,essv2510902,essv2497617,essv2501932 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18510,NA18516,NA18605,NA18853,NA18858,NA18861,NA19093,NA19116,NA19147,NA19239 esv273166 6 94320681 94321285 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578890 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv886369 6 94405315 94578532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575357 S 6533 0 1 TSG1 IS33721 nsv5397 6 94449107 94494033 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8277 S 9 0 1 TSG1 NA12156 nsv886370 6 94518711 94883155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579629 S 6533 0 1 TSG1 IS35145 nsv830733 6 94546080 94707633 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445516 S 95 0 1 "" nsv508422 6 94616664 94638834 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618794 S 4 0 1 "" NA10860 esv268864 6 94693188 94693473 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494330,essv2513415,essv2509435 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18907,NA19129 nsv5399 6 94773529 94808513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv570 S 9 1 0 "" NA19240 nsv886371 6 94789177 94883155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578748 S 6533 0 1 "" IS34896 nsv830734 6 94789553 94945645 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445519 S 95 1 0 "" esv24365 6 94791647 94792483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15409 S 451 0 1 "" NA18517 esv991090 6 94795811 94798251 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564657 S 3 1 0 "" HuRef esv7739 6 94797774 94797972 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30180 S 1 0 0 "" SJK nsv499464 6 94797795 94798134 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586500 S 9 1 0 "" esv1615750 6 94797796 94798133 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899115 S 2 0 0 "" HuRef nsv463972 6 94814379 94857159 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539982 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00820 esv1004734 6 94821432 94821432 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568868 S 3 1 0 "" HuRef esv1247514 6 94821433 94821433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271031 S 2 1 0 "" HuRef nsv349817 6 94821433 94821433 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368395 M 24 "" nsv463974 6 94826614 95261999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539984 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00175 nsv886372 6 94830027 95135367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569892 S 6533 0 1 "" IS31729 nsv510042 6 94848794 94854794 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624010 S 4 0 1 "" NA18994 esv993910 6 94894697 94894787 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573713 S 3 0 1 "" HuRef nsv823776 6 94930770 94940854 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432105 S 31 1 0 "" AK20 dgv6939n71 6 94941967 95035816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886373,nsv886374,nsv886375 M 6533 0 7 "" IS31041,IS34489,IS35145,IS35229,IS35771,IS36219,MS17114 dgv6940n71 6 94963750 95118323 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886376,nsv886377 M 6533 0 2 "" IS39011,MS22104 nsv470845 6 94979558 95023734 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544709 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv886378 6 94979558 95028478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529641 S 6533 0 1 "" MS10098 esv2530383 6 94987054 94987829 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321856 S 1 1 0 "" NA18507 esv272704 6 94987473 94987809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584713,essv2583651 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271143 6 94987474 94987810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575965,essv2526050,essv2556533,essv2568224,essv2545534,essv2521585,essv2576804,essv2550704,essv2520614,essv2558387,essv2564589,essv2577647,essv2565227,essv2576397,essv2564214,essv2537337,essv2528385,essv2546763,essv2552647,essv2578516,essv2562807,essv2523759,essv2553047,essv2561289,essv2539917,essv2522297,essv2532555,essv2529043,essv2541849,essv2570220,essv2563675,essv2535709,essv2566891,essv2555262,essv2555552,essv2567059,essv2531345,essv2573655,essv2571844,essv2526885,essv2548959,essv2554708 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA11830,NA11918,NA11994,NA11995,NA12003,NA12144,NA12154,NA12155,NA12716,NA12750,NA12751,NA12761,NA12812,NA12814,NA12828,NA12878,NA12891,NA12892,NA18502,NA18510,NA18532,NA18537,NA18542,NA18562,NA18563,NA18571,NA18576,NA18579,NA18592,NA18593,NA18603,NA18608,NA18853,NA18943,NA18945,NA18947,NA18961,NA18964,NA18973,NA19005 esv273319 6 94996551 94997032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580881,essv2579587 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv886379 6 95015043 95059471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532765 S 6533 1 0 "" MS10837 esv28912 6 95019774 95025831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12335 S 451 0 1 "" NA19190 nsv818447 6 95020388 95023735 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416550,nssv1416551 M 112 0 2 "" NA19172,NA19173 esv2422038 6 95020388 95025577 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5057232,essv5135635,essv5141908,essv5114359,essv5136993,essv5012194,essv5148710,essv5070343,essv5072110,essv5118938,essv5082816,essv5020875,essv5090806,essv5085229,essv5033022,essv5129549,essv5116858,essv5077025,essv5051699 M 1184 0 19 "" NA18509,NA18910,NA18911,NA18934,NA18935,NA19027,NA19118,NA19121,NA19123,NA19172,NA19174,NA19190,NA19191,NA19226,NA19311,NA19428,NA19818,NA19904,NA20357 esv2229929 6 95042427 95042843 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575615 S 1 0 1 "" NA18507 nsv886380 6 95048048 95135367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567199 S 6533 0 1 "" IS31046 nsv886381 6 95152547 95189646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518496 S 6533 0 1 "" SP57651 esv2422389 6 95188421 95286001 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161439 S 181 0 1 "" ND03627 nsv470846 6 95195753 95261998 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544711 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00653 nsv463975 6 95195753 95261999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539985 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00653 nsv886382 6 95202609 95352726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518497 S 6533 0 1 "" SP57651 esv272456 6 95223675 95223877 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580669,essv2579136,essv2579427 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271581 6 95223676 95223761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519238,essv2518781,essv2516125,essv2517173,essv2515245,essv2518902,essv2518419,essv2519374 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA12045,NA12873,NA18970,NA19238,NA19239,NA19240 nsv5400 6 95235660 95279952 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2604 S 9 0 1 "" NA18555 nsv511346 6 95244994 95254603 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625745 S 1 1 0 "" 1 esv2504977 6 95249818 95251817 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263904 S 1 0 1 "" NA18507 esv2299772 6 95249876 95251249 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972135 S 1 0 1 "" NA18507 esv5632 6 95249979 95251070 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28073 S 1 0 1 "" SJK nsv821040 6 95249994 95251201 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420597 S 1 0 1 "" NA10851 esv29385 6 95250114 95251113 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13199 S 451 7 6 "" NA07045,NA11894,NA11993,NA12004,NA12776,NA15510,NA18502,NA18505,NA18858,NA18916,NA19099,NA19190,NA19240 dgv6941n71 6 95254108 95407647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886384,nsv886383,nsv886385 M 6533 0 3 "" IS31259,IS41982,MS17114 dgv1996e1 6 95264814 95451409 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6248,esv183 M 271 0 0 "" NA18636 nsv463976 6 95284434 95432041 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539986 S 1557 0 1 "" NINDS_147 nsv7943 6 95288832 95293517 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16701 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 dgv6942n71 6 95319570 95424156 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886387,nsv886386 M 6533 0 3 "" IS31679,IS32607,IS33839 nsv830735 6 95319805 95396154 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445520 S 95 0 1 "" nsv7944 6 95345072 95350571 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14375,nssv13840,nssv14854,nssv14636 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA12802,NA19007 esv28472 6 95345759 95348635 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17075 S 451 0 2 "" NA06985,NA07037 dgv6943n71 6 95355219 95581148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886393,nsv886394,nsv886388 M 6533 0 3 "" IS33533,IS35229,IS38635 dgv6944n71 6 95366140 95507138 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886389,nsv886390,nsv886391,nsv886392 M 6533 0 5 "" IS32167,IS33616,IS35771,IS37226,IS37664 dgv6945n71 6 95366140 95667002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886395,nsv886399 M 6533 0 2 "" IS33491,IS37848 nsv463977 6 95384671 95455862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539987 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01177 dgv6946n71 6 95390885 95419419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886396,nsv886397 M 6533 0 3 "" SP50802,SP53490,SP56013 nsv823777 6 95392099 95392744 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430630 S 31 1 0 "" AK16 esv1925337 6 95392151 95392836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620410 S 1 0 1 "" NA18507 nsv350181 6 95392344 95392648 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368759 M 24 "" nsv886398 6 95392741 95472452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531389 S 6533 0 1 "" MS10430 nsv526484 6 95416725 95730630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702793 S 2026 0 1 "" esv269067 6 95425058 95425404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514512,essv2514092,essv2515490,essv2516614,essv2515557,essv2518106,essv2517644,essv2513616 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA12043,NA12249,NA12814,NA12815,NA12872,NA12878 esv273103 6 95425058 95425404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581455,essv2581076 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv470847 6 95432041 95629110 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544712 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00948 nsv886400 6 95440213 95581148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567125 S 6533 0 1 "" IS31045 dgv6947n71 6 95440213 95649511 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886405,nsv886401,nsv886404,nsv886402,nsv886408,nsv886409 M 6533 0 9 "" IS31251,IS31875,IS33738,IS34352,IS34962,IS38503,IS41180,SP53347,SP55986 dgv6948n71 6 95455862 95942881 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886403,nsv886407,nsv886410,nsv886414 M 6533 0 14 "" MS10105,MS11097,MS11306,MS11467,MS12088,MS12614,MS14512,MS16042,MS16206,MS16797,MS16981,MS19035,MS22297,MS24266 esv2149775 6 95457364 95457829 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863277 S 1 0 1 "" NA18507 esv2957 6 95457490 95457694 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25398 S 1 0 1 Single Asian sample YH "" YH dgv6949n71 6 95478595 95718940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886412,nsv886406,nsv886413 M 6533 0 3 "" IS30171,IS41317,SP53441 dgv389n21 6 95507138 95629110 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522209,nsv518167 M 2026 0 2 "" dgv779n27 6 95507138 95667002 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv463978,nsv463979 M 1557 0 2 "" HGDP00948,HGDP01312 nsv886411 6 95513635 95609404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502189 S 6533 0 1 "" SP50832 esv2752133 6 95517926 95616345 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981879,essv6989536 M 771 0 1 "" BEC_497 esv269698 6 95538024 95538201 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501187,essv2494947,essv2494034 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18520,NA18871 nsv527907 6 95543872 95613585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704413 S 2026 0 1 "" nsv527516 6 95569913 95613585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703970 S 2026 0 1 "" nsv886415 6 95581148 95718940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558607 S 6533 0 1 "" MS23423 nsv886416 6 95590481 95649511 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505102 S 6533 0 1 "" SP53048 nsv523558 6 95601054 95676359 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699338 S 2026 0 1 "" nsv524504 6 95601054 95730630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700448 S 2026 0 1 "" nsv886417 6 95616070 95667002 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509001 S 6533 0 1 "" SP54614 nsv518932 6 95623707 95629110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696398 S 2026 0 1 "" nsv521688 6 95623707 95692216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698308 S 2026 0 1 "" esv2097384 6 95630223 95630935 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775556 S 1 0 1 "" NA18507 nsv521869 6 95676359 95692216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694641 S 2026 0 1 "" esv4980 6 95715521 95715984 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27421 S 1 0 1 Single Asian sample YH "" YH esv8510 6 95715595 95715919 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30951 S 1 0 1 "" SJK esv1352578 6 95724436 95724436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339410 S 2 1 0 "" HuRef nsv823778 6 95724502 95730891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441112 S 31 0 1 "" NA18969 nsv463980 6 95942881 96142637 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539990 S 1557 0 1 MANEA NINDS_174 esv271603 6 96014738 96015077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571736,essv2548207,essv2539945,essv2520794,essv2543560,essv2527818,essv2539335,essv2574666 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12045,NA18489,NA18498,NA18870,NA18907,NA18912,NA19138 nsv886418 6 96038033 96169770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601217 S 6533 0 1 MANEA IS41984 nsv518549 6 96055581 96132167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695992 S 2026 0 1 MANEA esv2625173 6 96056226 96059550 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350014 S 1 0 1 "" NA18507 nsv886419 6 96132167 96288283 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571412 S 6533 1 0 MANEA IS32724 nsv819429 6 96155502 96159398 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419586 S 2 1 0 MANEA AK1 nsv830737 6 96199045 96360061 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445521 S 95 1 0 "" nsv886420 6 96339937 96401361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575451,nssv1599926,nssv1600474 M 6533 0 3 "" IS33747,IS41809,IS41889 nsv528207 6 96476953 96481579 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704768 S 2026 1 0 "" nsv886421 6 96490774 96566535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570316 S 6533 0 1 "" IS31879 dgv1057n67 6 96494316 96496110 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823780,nsv823779 M 31 0 10 "" AK12,AK18,AK2,AK20,AK8,NA18564,NA18592,NA18942,NA18968,NA18999 esv26354 6 96494360 96496120 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18323 S 451 0 3 "" NA15510,NA18523,NA19099 esv2422431 6 96512980 96650397 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161543 S 181 1 0 FUT9 ND04104 nsv519791 6 96530903 96534339 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697053 S 2026 0 1 "" nsv830738 6 96530946 96650755 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445523,nssv1445522 M 95 0 2 FUT9 nsv349387 6 96590434 96590497 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367965 M 24 FUT9 nsv349975 6 96590606 96590669 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368553 M 24 FUT9 nsv823781 6 96609575 96610269 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437475 S 31 1 0 FUT9 NA18949 nsv823782 6 96613063 96613580 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425810 S 31 1 0 FUT9 AK4 esv271471 6 96615862 96616204 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514196,essv2516437,essv2518017,essv2516030,essv2517629,essv2516277,essv2516838,essv2513909,essv2515194,essv2518914,essv2518342,essv2519480,essv2513739 M 157 13 0 Samples from several populations that are part of the HapMap project. FUT9 NA07346,NA07347,NA12043,NA12814,NA12872,NA12873,NA12878,NA12891,NA12892,NA19143,NA19238,NA19239,NA19240 esv273075 6 96615867 96616199 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581890,essv2582564,essv2582792,essv2584206,essv2583467 M 7 5 0 Samples from several populations that are part of the HapMap project. FUT9 NA12878,NA12891,NA12892,NA19238,NA19240 esv1667871 6 96615901 96615901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234090 S 2 1 0 FUT9 HuRef nsv528247 6 96657744 96713294 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704811 S 2026 1 0 FUT9 nsv886422 6 96671883 96717469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579836 S 6533 0 1 FUT9 IS35181 nsv886423 6 96685540 96743452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545853 S 6533 0 1 FUT9 MS16986 esv1046648 6 96747833 96747833 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858323 S 2 1 0 FUT9 HuRef esv2629800 6 96865968 96867400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372143 S 1 0 1 "" NA18507 nsv523783 6 96954941 96960300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699608 S 2026 0 1 "" esv2469589 6 96958808 96960471 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190406 S 1 0 1 "" NA18507 nsv5401 6 97009754 97039552 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9893 S 9 1 0 "" NA18507 esv1364910 6 97052327 97052327 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241039 S 2 1 0 "" HuRef esv8336 6 97068900 97068969 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30777 S 1 1 0 "" SJK nsv886424 6 97083481 97221857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585378 S 6533 0 1 FHL5,UFL1 IS37435 nsv507350 6 97117741 97123741 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620350 S 4 1 0 FHL5 NA15510 esv267790 6 97124369 97124454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516954,essv2516340,essv2515630 M 157 3 0 Samples from several populations that are part of the HapMap project. FHL5 NA11931,NA12814,NA12815 esv1452349 6 97194304 97194304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233691 S 2 1 0 "" HuRef esv270807 6 97199079 97199629 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493997 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18871 nsv510043 6 97218703 97224703 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621288,nssv624011 M 4 0 2 "" NA15510,NA18994 nsv516517 6 97301165 97315975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680131,nssv668795,nssv690693 M 2026 0 3 "" nsv886425 6 97390504 97467140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599048 S 6533 0 1 GPR63,NDUFAF4 IS40890 nsv823783 6 97409157 97413451 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436675 S 31 1 0 "" NA18542 nsv5402 6 97517630 97531875 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10511 S 9 1 0 KLHL32 NA18956 esv1215963 6 97538115 97538115 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214209 S 2 1 0 KLHL32 HuRef nsv436524 6 97573523 97579899 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466305 S 2 0 1 Samples from several populations that are part of the HapMap project. KLHL32 NA18505 esv27575 6 97574876 97577537 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12782 S 451 0 4 KLHL32 NA18502,NA18505,NA19099,NA19129 nsv524695 6 97576111 97578292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700674 S 2026 0 1 KLHL32 esv2370829 6 97594021 97594489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926006 S 1 0 1 KLHL32 NA18507 esv2604268 6 97611285 97612745 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332174 S 1 0 1 KLHL32 NA18507 esv2396648 6 97611586 97612273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570104 S 1 0 1 KLHL32 NA18507 esv8405 6 97611743 97612236 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30846 S 1 0 1 KLHL32 SJK nsv886426 6 97671894 97847372 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542837 S 6533 1 0 KLHL32,MMS22L MS15916 esv2485949 6 97784926 97786655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341143 S 1 0 1 MMS22L NA18507 esv2541663 6 97793030 97793801 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161954 S 1 1 0 MMS22L NA18507 nsv886427 6 98055318 98200611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580097 S 6533 0 1 "" IS35229 esv275452 6 98128050 98131328 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585507 S 1250 0 1 "" nsv830739 6 98171121 98353007 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445524 S 95 1 0 "" nsv5403 6 98182880 98215903 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8278 S 9 1 0 "" NA12156 nsv463981 6 98234675 98279701 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539991 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00870 nsv830740 6 98250860 98381602 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445525 S 95 1 0 "" nsv519350 6 98348762 98370334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692766,nssv655532 M 2026 0 2 "" esv272938 6 98358016 98358115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580111,essv2579856 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv269028 6 98358031 98358276 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557971,essv2565881,essv2575849,essv2540732,essv2571601,essv2521400,essv2542284,essv2536409,essv2522948,essv2543868,essv2556584,essv2568223,essv2545599,essv2523221,essv2531939,essv2577291,essv2570702,essv2548179,essv2521486,essv2576790,essv2550602,essv2535021,essv2552168,essv2547564,essv2529152,essv2558531,essv2564496,essv2577727,essv2565551,essv2576427,essv2520168,essv2530577,essv2561771,essv2537322,essv2547007,essv2540087,essv2557435,essv2552492,essv2551864,essv2538905,essv2527311,essv2561633,essv2544750,essv2563001,essv2552773,essv2540420,essv2524481,essv2565179,essv2539861,essv2549478,essv2519644,essv2560032,essv2566025,essv2532836,essv2567842,essv2567450,essv2541678,essv2570074,essv2553363,essv2535582,essv2572462,essv2566735,essv2542200,essv2533625,essv2555633,essv2530185,essv2527418,essv2531487,essv2573340,essv2577178,essv2572151,essv2525566,essv2529467,essv2538776,essv2545023,essv2560213,essv2536269,essv2533081,essv2554717,essv2547749,essv2524760,essv2563456 M 157 82 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11894,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA12892,NA18489,NA18499,NA18502,NA18504,NA18519,NA18522,NA18523,NA18526,NA18532,NA18542,NA18552,NA18555,NA18558,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18944,NA18945,NA18949,NA18952,NA18961,NA18964,NA18970,NA18973,NA18980,NA19093,NA19108,NA19172,NA19190 esv1618006 6 98358061 98358061 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189105 S 2 1 0 "" HuRef nsv463982 6 98360145 98435495 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539992 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00092 nsv886428 6 98370334 98525825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557650 S 6533 0 1 "" MS22797 dgv6950n71 6 98404553 98596375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886431,nsv886429,nsv886430 M 6533 0 3 MIR2113 IS35229,IS40729,MS18620 esv275429 6 98439288 98442792 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585909,essv2586167 M 1250 1 1 "" esv3118 6 98510959 98511681 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25559 S 1 0 1 Single Asian sample YH "" YH esv6956 6 98523441 98525259 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29397 S 1 0 1 "" SJK nsv5404 6 98621268 98666042 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8279 S 9 0 1 "" NA12156 nsv823784 6 98702767 98704661 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435135 S 31 0 1 "" NA18942 nsv823785 6 98702767 98716376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428334 S 31 0 1 "" AK10 nsv819963 6 98747832 98750315 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419434 S 2 1 0 "" AK1 nsv508423 6 98757571 98812994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622555 S 4 0 1 "" NA18994 nsv5405 6 98798596 98811915 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10512 S 9 1 0 "" NA18956 esv1782899 6 98800294 98800294 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889923 S 2 1 0 "" HuRef nsv350054 6 98800297 98800297 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368632 M 24 "" nsv510904 6 98861408 98901440 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624310 S 4 0 0 "" NA18994 nsv527947 6 98888574 98908361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704455 S 2026 0 1 "" nsv507351 6 98889815 98895815 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617715,nssv621853,nssv620351 M 4 3 0 "" CHM,NA10860,NA15510 nsv349806 6 98983324 98984169 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368384 M 24 "" nsv5406 6 99017687 99058601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11130,nssv4935 M 9 2 0 "" NA15510,NA19129 nsv5407 6 99080150 99114838 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2729 S 9 1 0 "" NA18555 nsv886432 6 99166441 99233715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512458 S 6533 1 0 "" SP55514 esv274669 6 99228978 99229323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580691 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269893 6 99229253 99229597 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510363,essv2508573,essv2508378,essv2507795,essv2493376,essv2509681,essv2501099,essv2493996,essv2507001,essv2511581,essv2504340 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA12414,NA12717,NA12749,NA12751,NA12776,NA18508,NA18516,NA18871,NA19102 nsv886433 6 99377254 99398857 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510725 S 6533 0 1 POU3F2 SP54988 nsv823787 6 99377270 99409255 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428337 S 31 1 0 POU3F2 AK10 dgv6951n71 6 99380787 99404288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886435,nsv886434 M 6533 0 2 POU3F2 SP54725,SP54956 nsv517596 6 99382011 99386170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677904,nssv675681,nssv673229,nssv688364,nssv688826,nssv679250,nssv658756,nssv686391,nssv655954,nssv672036,nssv657432,nssv683368,nssv662128,nssv673131,nssv654130,nssv655222,nssv661480,nssv686474,nssv661947,nssv691298,nssv661887,nssv671362,nssv659180,nssv663176,nssv673116,nssv667969,nssv691661,nssv673934,nssv681049,nssv682993,nssv691211,nssv678381,nssv684513,nssv676967 M 2026 0 34 "" esv26393 6 99495881 99497552 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20449 S 451 0 1 FBXL4 NA18909 nsv823788 6 99495955 99497644 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425032 S 31 0 1 FBXL4 AK2 esv273881 6 99578045 99578279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580687,essv2578963,essv2579809 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271892 6 99578057 99578142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518993,essv2515252,essv2518898,essv2518397 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19238,NA19239,NA19240 nsv507352 6 99741421 99747421 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621854,nssv617716 M 4 2 0 "" CHM,NA10860 nsv886436 6 99827724 100122836 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553786 S 6533 1 0 C6orf168,CCNC,COQ3,LOC100130890,PNISR,USP45 MS20288 nsv886437 6 99836676 99870865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559239 S 6533 1 0 C6orf168 MS23791 esv272385 6 99872099 99872184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581588 S 7 1 0 Samples from several populations that are part of the HapMap project. C6orf168 NA12878 nsv886438 6 99943675 100122836 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559240 S 6533 1 0 CCNC,COQ3,LOC100130890,PNISR,USP45 MS23791 nsv527517 6 99948777 99970699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703971 S 2026 0 1 COQ3,PNISR nsv886439 6 99948777 100000248 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574934 S 6533 0 1 COQ3,PNISR,USP45 IS33669 nsv823789 6 99979413 99980975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432107 S 31 0 1 PNISR AK20 nsv886440 6 99980255 100045766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578672 S 6533 0 1 USP45 IS34856 nsv463983 6 99989284 100028543 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539993 S 1557 0 1 USP45 1780862356_A dgv390n21 6 100078150 100079330 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517990,nsv528990 M 2026 0 2 LOC100130890 esv267507 6 100105229 100105365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511815,essv2493317,essv2509840,essv2493596,essv2509017,essv2506259,essv2507206,essv2506412,essv2497608,essv2510382,essv2499614 M 157 11 0 Samples from several populations that are part of the HapMap project. CCNC NA18499,NA18504,NA18508,NA18517,NA18522,NA18523,NA18870,NA19108,NA19147,NA19172,NA19225 nsv823790 6 100120269 100120934 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439717 S 31 0 1 CCNC NA18537 nsv511343 6 100137758 100152323 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625712 S 1 0 1 "" 1 esv2527911 6 100140678 100142753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323559 S 1 0 1 "" NA18507 esv2044151 6 100141030 100142226 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649330 S 1 0 1 "" NA18507 nsv511907 6 100141184 100142236 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624442 S 1 0 1 "" 1 esv2860 6 100141192 100142192 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25301 S 1 0 1 Single Asian sample YH "" YH dgv1058n67 6 100141200 100142047 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823792,nsv823791 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820536 6 100141200 100142073 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420598 S 1 0 1 "" NA10851 esv8506 6 100141216 100142040 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30947 S 1 0 1 "" SJK esv25932 6 100141275 100141994 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17359 S 451 0 34 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv33881 6 100141423 100141972 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93656,essv99357,essv98503 M 51 3 0 "" 21972,22275,22352 esv274089 6 100153236 100153547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580085,essv2579835,essv2580789,essv2579066 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239 esv269640 6 100153242 100153327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513770,essv2518917 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19239 nsv830741 6 100166296 100362726 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445526 S 95 1 0 PRDM13 esv1000887 6 100173544 100173612 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569000 S 3 0 1 "" HuRef esv1704227 6 100173548 100173617 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757002 S 2 0 1 "" HuRef nsv886441 6 100189704 100536638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553787,nssv1559241 M 6533 2 0 MCHR2 MS20288,MS23791 dgv6952n71 6 100236680 100337769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886443,nsv886442 M 6533 0 2 "" MS22677,MS23495 nsv830742 6 100267981 100470819 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445527 S 95 1 0 "" nsv5408 6 100337711 100368558 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11131 S 9 1 0 "" NA15510 esv2752086 6 100364000 100781771 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984526,essv6984525,essv6984524,essv6987609,essv6987610 M 771 1 0 LOC728012,MCHR2 BEC_714 esv2508230 6 100366012 100367444 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209239 S 1 0 1 "" NA18507 esv2335226 6 100366676 100367178 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688033 S 1 0 1 "" NA18507 esv4464 6 100366816 100367130 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26905 S 1 0 1 Single Asian sample YH "" YH esv1003795 6 100366850 100366999 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585942 S 3 0 1 "" HuRef esv273745 6 100375311 100375551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578873 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267514 6 100375311 100375614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496638,essv2506806,essv2495469,essv2504433,essv2499385,essv2505509,essv2502896,essv2503375,essv2507733,essv2493446,essv2512528,essv2509746,essv2506114,essv2510957,essv2501764,essv2502091,essv2511543 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11918,NA11919,NA11993,NA11994,NA12154,NA12156,NA12716,NA12751,NA12763,NA18489,NA18508,NA18523,NA19116,NA19239,NA19257 esv989872 6 100404245 100404294 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580317 S 3 0 1 "" HuRef esv1343800 6 100404245 100404295 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814505 S 2 0 1 "" HuRef nsv823793 6 100421558 100422200 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435137 S 31 0 1 "" NA18942 esv269483 6 100434818 100434978 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508064,essv2495900,essv2508874,essv2500354,essv2501050,essv2494010,essv2506823,essv2512019,essv2498247,essv2495062 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12045,NA12489,NA12878,NA12891,NA18856,NA18871,NA19102,NA19238,NA19240 esv273630 6 100434850 100435188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584370,essv2583784 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269139 6 100487573 100487889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513202,essv2503442,essv2502556 M 157 3 0 Samples from several populations that are part of the HapMap project. MCHR2 NA12249,NA12716,NA12750 esv272904 6 100514177 100514321 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579316 S 7 1 0 Samples from several populations that are part of the HapMap project. MCHR2 NA19239 esv270014 6 100514189 100514516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575841,essv2540928,essv2521384,essv2525851,essv2542379,essv2536444,essv2543865,essv2570803,essv2556477,essv2523241,essv2531864,essv2577479,essv2521569,essv2576705,essv2550544,essv2525341,essv2550266,essv2544448,essv2552231,essv2520667,essv2558643,essv2564599,essv2553581,essv2559550,essv2576446,essv2564086,essv2530881,essv2562098,essv2537637,essv2546972,essv2520861,essv2557040,essv2578750,essv2558894,essv2544797,essv2562840,essv2523706,essv2552769,essv2541279,essv2538278,essv2542662,essv2540304,essv2524342,essv2564953,essv2534924,essv2560998,essv2539816,essv2549394,essv2519601,essv2559854,essv2522175,essv2566143,essv2531188,essv2532563,essv2567870,essv2528773,essv2567446,essv2541612,essv2570079,essv2563683,essv2553398,essv2535845,essv2559344,essv2542140,essv2551038,essv2569182,essv2562497,essv2539489,essv2578232,essv2573196,essv2555334,essv2533599,essv2555720,essv2566611,essv2529901,essv2527693,essv2557691,essv2556035,essv2534449,essv2522616,essv2573635,essv2543343,essv2576960,essv2572003,essv2526909,essv2575788,essv2575326,essv2526484,essv2524201,essv2545041,essv2551606,essv2536041,essv2538022,essv2548977,essv2533308,essv2547925,essv2524953,essv2563480 M 157 98 0 Samples from several populations that are part of the HapMap project. MCHR2 NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA12004,NA12006,NA12043,NA12144,NA12154,NA12155,NA12156,NA12234,NA12414,NA12489,NA12716,NA12750,NA12751,NA12763,NA12776,NA12814,NA12828,NA12873,NA12874,NA12878,NA12892,NA18498,NA18501,NA18510,NA18516,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18856,NA18858,NA18861,NA18909,NA18912,NA18940,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18964,NA18965,NA18970,NA18973,NA19005,NA19099,NA19102,NA19114,NA19129,NA19172,NA19257 esv1423203 6 100514220 100514220 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764433 S 2 1 0 MCHR2 HuRef nsv428151 6 100560663 100721124 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450826 S 62 0 1 LOC728012 NA19096 nsv524878 6 100587516 100587627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700884 S 2026 0 1 LOC728012 esv2490977 6 100589125 100590612 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229485 S 1 0 1 LOC728012 NA18507 nsv507353 6 100597859 100603859 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621855 S 4 1 0 LOC728012 NA10860 nsv522813 6 100647417 100669081 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698459 S 2026 1 0 "" esv1001991 6 100781372 100792656 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565243 S 3 0 1 "" HuRef esv22415 6 100813539 100814199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17003 S 451 0 1 "" NA15510 nsv515895 6 100975500 101017519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687417,nssv692010,nssv684841,nssv667008,nssv688559,nssv692812,nssv671135,nssv683246,nssv672248,nssv673721,nssv665180,nssv677582,nssv674756,nssv700445,nssv677741,nssv674785,nssv657822 M 2026 0 17 SIM1 nsv528283 6 101060604 101060757 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704853 S 2026 1 0 "" nsv886444 6 101067919 101191667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537931 S 6533 0 1 ASCC3 MS13426 dgv6953n71 6 101111472 101384647 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886445,nsv886456 M 6533 0 2 ASCC3 IS35743,SP53687 dgv6954n71 6 101124753 101198155 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886446,nsv886447 M 6533 0 2 ASCC3 IS33669,MS18648 dgv6955n71 6 101124753 101253816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886449,nsv886448 M 6533 0 3 ASCC3 IS32615,MS11669,MS18847 dgv6956n71 6 101124753 101309772 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886455,nsv886453,nsv886451,nsv886452,nsv886450 M 6533 0 6 ASCC3 IS31054,IS35236,MS11467,MS21252,MS23290,MS24785 nsv470848 6 101143434 101209305 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544713 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASCC3 HGDP00875 nsv463989 6 101145936 101185439 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539995 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASCC3 HGDP01355 nsv886454 6 101155829 101230224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554612 S 6533 0 1 ASCC3 MS20872 esv1269345 6 101162684 101162684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238474 S 2 1 0 ASCC3 HuRef nsv463990 6 101165607 101230224 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539996 S 1557 0 1 ASCC3 1782681096_A nsv521897 6 101230224 101265671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694668 S 2026 0 1 ASCC3 nsv886457 6 101265671 101594194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555397 S 6533 0 1 ASCC3 MS21314 esv1007226 6 101299883 101302336 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564167 S 3 1 0 ASCC3 HuRef esv28841 6 101300487 101303229 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12559 S 451 1 0 ASCC3 NA19240 esv259569 6 101301166 101303620 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393643,essv2394338 M 6 0 0 Samples from several populations that are part of the HapMap project. ASCC3 NA19238,NA19240 esv273447 6 101312041 101312374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582130,essv2582727,essv2584104,essv2583413 M 7 4 0 Samples from several populations that are part of the HapMap project. ASCC3 NA12878,NA12891,NA19238,NA19240 nsv510044 6 101424730 101430730 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624012,nssv622123 M 4 0 2 ASCC3 NA10860,NA18994 esv29495 6 101487861 101491601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17031 S 451 0 2 "" NA18861,NA19240 esv26799 6 101589234 101594139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12574 S 451 0 9 "" NA12489,NA18511,NA18523,NA18858,NA18861,NA19099,NA19108,NA19114,NA19190 esv996169 6 101600875 101603443 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563488 S 3 0 1 "" HuRef esv269510 6 101670540 101670774 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509706,essv2506942,essv2501961 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA19102,NA19239 esv272457 6 101670590 101670885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580194,essv2579828 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv5411 6 101696187 101728948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv571 S 9 1 0 "" NA19240 nsv886458 6 101730066 101823086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577705 S 6533 0 1 "" IS34530 esv2517191 6 101751199 101752621 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219960 S 1 0 1 "" NA18507 esv269315 6 101827452 101827592 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512423,essv2498329,essv2497237,essv2508432,essv2510083,essv2499315,essv2495952,essv2500756,essv2497667 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA18526,NA18552,NA18582,NA18593,NA18605,NA18961,NA18973,NA19147 nsv5412 6 101904948 101937143 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2605 S 9 1 0 "" NA18555 esv270582 6 101913657 101913928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495282,essv2501689,essv2508471,essv2510076,essv2511535 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11992,NA12144,NA18582,NA18593 nsv515487 6 101938033 101946730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668741,nssv653289,nssv682712 M 2026 0 3 "" dgv6957n71 6 101987097 102058195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886460,nsv886459 M 6533 0 2 GRIK2 IS31205,IS35229 dgv6958n71 6 102023478 102058195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886461,nsv886463 M 6533 0 4 GRIK2 IS36981,IS38065,MS10580,MS14737 nsv886462 6 102023478 102058195 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581892,nssv1597806,nssv1565799,nssv1566250,nssv1578885,nssv1549448,nssv1565648,nssv1567773,nssv1541430,nssv1584504,nssv1580177,nssv1582960,nssv1554613,nssv1591989,nssv1545664,nssv1569785 M 6533 2 14 GRIK2 IS30490,IS30522,IS30620,IS31145,IS31706,IS34962,IS35236,IS35743,IS36219,IS37059,IS39119,IS41113,MS15312,MS16898,MS18240,MS20872 nsv886464 6 102029392 102069633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560980 S 6533 0 1 GRIK2 MS24785 nsv5413 6 102038580 102065674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3460 S 9 0 1 GRIK2 NA12878 dgv125n17 6 102038819 102060248 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437519,nsv437520 M 60 0 2 GRIK2 NA18857,NA19142 dgv54n50 6 102040052 102046436 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511357,nsv511908 M 1 0 1 GRIK2 1 nsv7945 6 102040642 102046912 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16212,nssv15691,nssv14655,nssv15088,nssv16603,nssv14884 M 31 0 6 Samples from several populations that are part of the HapMap project. GRIK2 NA10839,NA18502,NA18504,NA18537,NA19144,NA19240 esv6416 6 102041200 102045726 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28857 S 1 0 1 GRIK2 SJK nsv823794 6 102041241 102045614 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425034,nssv1429864,nssv1439720 M 31 0 3 GRIK2 AK14,AK2,NA18537 esv25324 6 102041250 102045717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13525 S 451 0 11 GRIK2 NA12414,NA12489,NA12878,NA18502,NA18511,NA18858,NA18861,NA18916,NA19108,NA19225,NA19240 esv32923 6 102041328 102045443 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98161,essv99777,essv99161,essv98401 M 51 0 4 GRIK2 21772,22086,22275,22352 nsv514381 6 102041376 102045472 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627833 S 1414 0 0 GRIK2 esv274923 6 102073509 102076760 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585320,essv2585804 M 1250 1 1 GRIK2 nsv507354 6 102118853 102124853 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622985,nssv617717,nssv620352 M 4 3 0 GRIK2 CHM,NA15510,NA18994 nsv521403 6 102221473 102222762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698013 S 2026 0 1 GRIK2 nsv527973 6 102221473 102226522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704486 S 2026 0 1 GRIK2 esv275391 6 102228784 102233451 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585449 S 1250 0 1 GRIK2 esv273995 6 102278672 102278998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584242,essv2583781 M 7 2 0 Samples from several populations that are part of the HapMap project. GRIK2 NA19238,NA19240 esv270159 6 102278672 102279008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557892,essv2531969,essv2544539,essv2557098,essv2532050,essv2569262,essv2550111,essv2558734,essv2536965,essv2569810,essv2527149,essv2561467,essv2562862,essv2552891,essv2541456,essv2524416,essv2565114,essv2534573,essv2539559,essv2519613,essv2566097,essv2567969,essv2528969,essv2567354,essv2541780,essv2569883,essv2553219,essv2535809,essv2559229,essv2527771,essv2562159,essv2533876,essv2573193,essv2555335,essv2530023,essv2573828,essv2555873,essv2531543,essv2575230,essv2538490,essv2526704,essv2574582,essv2568494,essv2545219,essv2560212,essv2571368,essv2574193,essv2551449,essv2554739,essv2525120 M 157 50 0 Samples from several populations that are part of the HapMap project. GRIK2 NA07346,NA07357,NA10851,NA12006,NA12414,NA18501,NA18505,NA18508,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18532,NA18542,NA18545,NA18555,NA18558,NA18561,NA18563,NA18566,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18907,NA18909,NA18916,NA18942,NA18943,NA18949,NA18951,NA18956,NA18961,NA19102,NA19108,NA19114,NA19138,NA19147,NA19172,NA19190,NA19238,NA19240,NA19257 esv271520 6 102327235 102327320 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518578,essv2515272,essv2518223,essv2519434 M 157 4 0 Samples from several populations that are part of the HapMap project. GRIK2 NA07346,NA12287,NA19238,NA19240 esv272706 6 102327239 102327505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584144,essv2583600 M 7 2 0 Samples from several populations that are part of the HapMap project. GRIK2 NA19238,NA19240 esv274939 6 102353332 102357442 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586117 S 1250 0 1 GRIK2 esv1008778 6 102389282 102393014 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564463 S 3 1 0 GRIK2 HuRef esv2614377 6 102390401 102390645 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281760 S 1 1 0 GRIK2 NA18507 nsv512889 6 102390426 102390758 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625534 S 1 1 0 GRIK2 1 esv1244606 6 102390464 102390464 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829917 S 2 1 0 GRIK2 HuRef nsv830743 6 102390775 102565885 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445528 S 95 0 1 GRIK2 nsv463994 6 102409773 102453439 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539997 S 1557 0 1 GRIK2 1780862432_A esv24093 6 102421291 102426205 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16082 S 451 0 1 GRIK2 NA18916 dgv6959n71 6 102425032 102573090 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886466,nsv886465 M 6533 0 2 GRIK2 MS10737,MS17114 esv2462735 6 102430602 102431054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188638 S 1 0 1 GRIK2 NA18507 nsv470850 6 102449771 102702280 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544714 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GRIK2 HGDP00876 nsv830744 6 102476454 102673430 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445531,nssv1445530 M 95 2 0 GRIK2 esv22421 6 102525187 102525801 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11449 S 451 0 1 GRIK2 NA18505 esv268192 6 102527106 102527378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511378,essv2512971,essv2494433,essv2506521 M 157 4 0 Samples from several populations that are part of the HapMap project. GRIK2 NA11920,NA18547,NA18572,NA19108 esv1371045 6 102568755 102568755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020888 S 2 1 0 GRIK2 HuRef nsv463996 6 102678137 102709706 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv539999 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01255 nsv518086 6 102678137 102709706 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694199 S 2026 1 0 "" nsv518104 6 102774486 102777584 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695517 S 2026 0 1 "" esv270313 6 102781064 102781149 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513916 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv463997 6 102886028 102926652 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540000 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00798 nsv819304 6 102920897 102922854 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419363 S 2 1 0 "" AK1 nsv886467 6 102921513 103172831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541158 S 6533 0 1 "" MS15199 dgv1059n67 6 102921742 102922628 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823796,nsv823798,nsv823795,nsv823799 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv22819 6 102921742 102922628 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16173 S 451 6 2 "" NA11931,NA12287,NA12749,NA18505,NA18916,NA19099,NA19147,NA19240 nsv820702 6 102921742 102922628 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420599 S 1 0 1 "" NA10851 nsv823800 6 102921838 102923460 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425813 S 31 1 0 "" AK4 nsv518846 6 102925456 102940548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696299 S 2026 0 1 "" nsv5414 6 102946248 102960473 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3461 S 9 1 0 "" NA12878 dgv1060n67 6 102951131 102952813 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823801,nsv823802 M 31 2 0 "" AK14,NA18552 esv270324 6 102952756 102952841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515509,essv2515071,essv2515612,essv2515999,essv2517604 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12812,NA12815,NA12873,NA12878 esv274082 6 102952756 102952841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581243 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv886468 6 102956029 103112241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546144 S 6533 0 1 "" MS17114 nsv886469 6 102972083 103068426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569162 S 6533 0 1 "" IS31481 esv22634 6 102987035 102989841 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18683 S 451 0 1 "" NA18858 dgv6960n71 6 102991281 103114085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886470,nsv886475,nsv886473,nsv886472,nsv886471,nsv886474,nsv886477,nsv886476 M 6533 0 38 "" IS30522,IS30537,IS30597,IS31044,IS31074,IS31166,IS31335,IS31401,IS31419,IS31581,IS31728,IS32006,IS33507,IS33839,IS35145,IS35229,IS35271,IS35498,IS35717,IS35771,IS37065,IS39011,IS39718,IS40067,IS41798,MS10699,MS10802,MS11467,MS11669,MS12266,MS13373,MS13426,MS14737,MS16898,MS19634,MS19736,MS20361,SP51314 esv28089 6 103018380 103019010 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14590 S 451 1 1 "" NA18505,NA18858 nsv433237 6 103018562 103059703 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463118 S 9 0 1 "" NA15510 esv274898 6 103022639 103035109 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585845 S 1250 0 1 "" nsv886478 6 103038559 103122488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593743 S 6533 0 1 "" IS39512 nsv463998 6 103059703 103116781 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540001 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00580 esv269655 6 103065143 103065471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565600,essv2575937,essv2546509,essv2521166,essv2542382,essv2570936,essv2568405,essv2545692,essv2523191,essv2577416,essv2570680,essv2548418,essv2521811,essv2576557,essv2550475,essv2535242,essv2554052,essv2520656,essv2547452,essv2529377,essv2558687,essv2564355,essv2553666,essv2559701,essv2561951,essv2528398,essv2520775,essv2557308,essv2557256,essv2552512,essv2532350,essv2569499,essv2578763,essv2550243,essv2558837,essv2537174,essv2527038,essv2561466,essv2560088,essv2541469,essv2566872,essv2569170,essv2543451,essv2562379,essv2539260,essv2534081,essv2555281,essv2533645,essv2522414,essv2529664,essv2575000,essv2538787,essv2526694,essv2560786,essv2524132,essv2574869,essv2572797,essv2568618,essv2545061,essv2549803,essv2571416,essv2545710,essv2574382,essv2551530,essv2536142,essv2549121,essv2533257,essv2554579,essv2547988,essv2557885 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA10851,NA11829,NA11830,NA11881,NA11894,NA11919,NA11993,NA11995,NA12003,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12234,NA12249,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12874,NA12891,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18522,NA18523,NA18570,NA18592,NA18853,NA18861,NA18870,NA18909,NA18912,NA18916,NA18943,NA18944,NA18960,NA19093,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 esv273081 6 103065143 103065471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584033,essv2583501 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv886479 6 103129531 103171853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505048 S 6533 0 1 "" SP53041 esv1219372 6 103147070 103147070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888730 S 2 1 0 "" HuRef nsv463999 6 103158806 103243341 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540002 S 1557 0 1 "" 1780854495_A nsv524658 6 103186819 103214698 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700625 S 2026 1 0 "" nsv470851 6 103211853 103407221 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544715 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 nsv830745 6 103245426 103419134 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445532 S 95 0 1 "" dgv6961n71 6 103252767 103332141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886480,nsv886485,nsv886482,nsv886481 M 6533 0 6 "" IS31044,IS35229,IS41043,MS12071,MS15312,SP57270 dgv6962n71 6 103252767 103349725 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886483,nsv886486 M 6533 0 4 "" IS31581,IS31679,IS33196,IS39718 nsv525677 6 103252767 103349725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701834 S 2026 0 1 "" nsv886484 6 103252767 103421492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581391 S 6533 0 1 "" IS35572 dgv1997e1 6 103255429 103412632 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv76,essv1914 M 271 0 0 "" NA18959 dgv6963n71 6 103265749 103383285 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886487,nsv886488 M 6533 0 2 "" MS18978,SP50679 nsv470852 6 103320517 103423846 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544716 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00290 nsv830746 6 103338778 103529397 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445533 S 95 1 0 "" esv2374029 6 103370694 103371108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992387 S 1 0 1 "" NA18507 esv32973 6 103381419 103609341 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98686,essv101279 M 51 0 2 "" 21606,21805 esv2496538 6 103437001 103437839 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381235 S 1 1 0 "" NA18507 esv272496 6 103437267 103437546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579176 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269732 6 103437281 103437609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557195,essv2532151,essv2562576,essv2551031,essv2529699,essv2575624,essv2526493,essv2572870,essv2568488,essv2560494,essv2571506,essv2574355,essv2551416 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18507,NA18858,NA19093,NA19099,NA19114,NA19143,NA19147,NA19190,NA19238,NA19240,NA19257 nsv830748 6 103442960 103604028 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445534 S 95 1 0 "" nsv886489 6 103481271 104137237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541159 S 6533 0 1 "" MS15199 esv273730 6 103504708 103505030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582763,essv2584356,essv2584686,essv2583532 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv2362539 6 103508268 103508678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827003 S 1 0 1 "" NA18507 dgv780n27 6 103547193 104324467 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464000,nsv464002 M 1557 0 2 "" HGDP00683,HGDP00731 dgv6964n71 6 103550449 103781310 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886491,nsv886490 M 6533 0 2 "" SP54635,SP56400 esv2474846 6 103552017 103553567 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177340 S 1 0 1 "" NA18507 nsv886492 6 103574129 103684347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572211 S 6533 0 1 "" IS32891 esv1611800 6 103578484 103578484 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021344 S 2 1 0 "" HuRef esv1112603 6 103578577 103578577 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4210058 S 2 1 0 "" HuRef esv268708 6 103583209 103583419 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493216,essv2496418,essv2506244,essv2494100,essv2513366,essv2507355,essv2506564 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18510,NA18523,NA18871,NA18907,NA18912,NA19108 nsv830749 6 103584024 103711907 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445535 S 95 0 1 "" esv2610622 6 103586018 103587655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285994 S 1 0 1 "" NA18507 nsv464001 6 103621912 103769114 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540004 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00972 dgv1061n67 6 103692226 103694044 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823804,nsv823803 M 31 0 2 "" AK4,NA18972 dgv6965n71 6 103719352 103922375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886495,nsv886493 M 6533 0 2 "" IS31145,IS39011 nsv886494 6 103733157 103822960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534003 S 6533 0 1 "" MS11384 nsv507355 6 103758258 103764258 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621856,nssv620353 M 4 2 0 "" NA10860,NA15510 nsv886496 6 103769114 103881999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548015 S 6533 0 1 "" MS17678 nsv428152 6 103788817 103911696 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450832,nssv450827,nssv450830,nssv450840,nssv450844,nssv450841,nssv450836,nssv450835,nssv450843,nssv450838,nssv450834,nssv450829,nssv450839,nssv450837,nssv450833,nssv450828 M 62 16 0 "" HGDP00449,HGDP00460,HGDP00462,HGDP00463,HGDP00473,HGDP00478,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01094,NA19096,NA19113,NA19189,NA19225 nsv886497 6 103791435 103922375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580102,nssv1588658,nssv1594142 M 6533 0 3 "" IS35229,IS38231,IS39716 nsv288 6 103818151 103874226 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv288 S 1 0 1 "" NA15510 nsv5415 6 103818151 103889533 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11132,nssv6081,nssv2606,nssv3462 M 9 0 4 "" NA12156,NA12878,NA15510,NA18555 nsv437976 6 103829908 103868154 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468833,nssv468842,nssv468865,nssv468827,nssv468861,nssv468823,nssv468854,nssv468869,nssv468859,nssv468849,nssv468866,nssv468860,nssv468862,nssv468831,nssv468826,nssv468825,nssv468843,nssv468835,nssv468821,nssv468850,nssv468856,nssv468873,nssv468876,nssv468855,nssv468880,nssv468838,nssv468878,nssv468819,nssv468877,nssv468871,nssv468828,nssv468839,nssv468872,nssv468832,nssv468837,nssv468858,nssv468874,nssv468870,nssv468820,nssv468848,nssv468822,nssv468830,nssv468841,nssv468863,nssv468879,nssv468824,nssv468857,nssv468847,nssv468834,nssv468844,nssv468867,nssv468846,nssv468845,nssv468836,nssv468868 M 269 0 48 Samples from several populations that are part of the HapMap project. "" NA07000,NA07029,NA07048,NA07055,NA10831,NA10835,NA10838,NA10839,NA10846,NA10851,NA10855,NA11832,NA12004,NA12006,NA12057,NA12145,NA12156,NA12249,NA12707,NA12716,NA12717,NA12753,NA12762,NA12801,NA12802,NA12812,NA12815,NA12865,NA12875,NA12878,NA12891,NA18500,NA18502,NA18852,NA18854,NA18862,NA18863,NA18913,NA18914,NA19099,NA19100,NA19119,NA19120,NA19130,NA19131,NA19132,NA19203,NA19205 dgv1998e1 6 103834514 103911696 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21277,essv14377,essv3200,essv14494,essv22068,essv10482,essv290,essv16704,essv20440,essv8473,essv18219,essv65,essv3455,essv23791,essv24233,essv3898,essv18078,essv1792,essv18926,essv22570,essv15063,essv1383,essv1513,essv8763,essv11042,essv14991,essv22965,essv14615,essv15229,essv22672,essv19427,essv12610,essv8094,essv12243,essv13154,essv8322,essv7184,essv18624,essv15740,essv24788,essv12772,essv9869,essv10129,essv16110,essv20322,essv20917,essv11200,essv16999,essv10386,essv12339,essv20291,essv9629,essv8796,essv19646,essv23461,essv16444,essv11672,essv3018,essv11980,essv8611,essv14310,essv18451,essv7834,essv10576,essv13630,essv4650,essv6189,essv6253,essv2058,essv21700,essv23340,essv13064,essv16903,essv21175,essv13828,essv21818,essv10629,essv19272,essv19923,essv11443,essv8339,essv17486,essv6346,essv13005,essv9129,essv15609,essv14076,essv23938,essv15312,essv10041,essv11171,essv18340,essv15876,essv16800,essv11852,essv17042,essv15632,essv9727,essv16281,essv10918,essv21768,essv9473,essv25004,essv18247,essv22456,essv3791,essv14763,essv765,essv1475,essv3702,essv20563,essv3965,essv6596,essv23174,essv16042,essv4676,essv5150,essv17984,essv23456,essv11949,essv17244,essv24686,essv20066,essv16528,essv11790,essv14151,essv15463,essv3096,essv20123 M 271 0 0 "" NA07034,NA07048,NA07056,NA07345,NA07348,NA07357,NA10830,NA10838,NA10839,NA10846,NA10854,NA10855,NA10856,NA10860,NA11829,NA11830,NA11831,NA11839,NA11840,NA11994,NA12003,NA12005,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12236,NA12239,NA12248,NA12264,NA12750,NA12752,NA12761,NA12762,NA12763,NA12801,NA12813,NA12814,NA18501,NA18502,NA18503,NA18504,NA18505,NA18507,NA18508,NA18515,NA18516,NA18517,NA18532,NA18547,NA18558,NA18564,NA18594,NA18609,NA18621,NA18622,NA18636,NA18852,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18870,NA18872,NA18912,NA18913,NA18943,NA18944,NA18947,NA18949,NA18956,NA18969,NA18970,NA18974,NA18978,NA18980,NA18981,NA18991,NA18992,NA18994,NA18997,NA19007,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19120,NA19127,NA19129,NA19130,NA19131,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19154,NA19159,NA19161,NA19172,NA19194,NA19202,NA19204,NA19205,NA19206,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19239,NA19240 dgv1999e1 6 103834514 104012090 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2812,esv253 M 271 0 0 "" NA18987 nsv464003 6 103834851 103908333 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540006 S 1557 0 1 "" 1780862042_A dgv6966n71 6 103834851 103947664 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886499,nsv886498 M 6533 0 3 "" IS30539,IS35911,IS39464 dgv1062n67 6 103842397 103871375 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823807,nsv823805,nsv823806,nsv823810 M 31 0 29 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820486 6 103842397 103871375 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420600 S 1 0 1 "" NA10851 nsv435826 6 103842682 103870484 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466307 S 2 0 1 "" NA15510 esv267955 6 103842821 103842906 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513991 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv23230 6 103843385 103870879 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17728 S 451 35 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv1007620 6 103843685 103870731 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564175 S 3 0 1 "" HuRef nsv508424 6 103843719 103890455 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619980,nssv618795 M 4 0 2 "" NA10860,NA15510 nsv7946 6 103843851 103874162 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16633,nssv13541,nssv15336,nssv16242,nssv14575,nssv16272,nssv14973,nssv14988,nssv14666,nssv17123,nssv13900,nssv14647,nssv14435,nssv14510,nssv14182,nssv14540,nssv17400,nssv13549,nssv13870,nssv15148,nssv14914,nssv17294,nssv15721,nssv16731,nssv15089 M 31 22 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA11830,NA12802,NA12872,NA18502,NA18504,NA18517,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19007,NA19144,NA19173,NA19221,NA19240 esv991380 6 103844151 103870879 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586145 S 3 1 0 "" HuRef esv6193 6 103844157 103869597 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28634 S 1 0 1 "" SJK nsv499552 6 103844159 103869583 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585997 S 9 0 1 "" nsv819687 6 103844189 103870914 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418706 S 2 1 0 "" AK1 esv2421386 6 103844669 103868754 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5138209,essv5107872,essv5079159,essv5099441,essv5039604,essv5039893,essv5014371,essv5003541,essv5150978,essv5148984,essv5072444,essv5078814,essv5047076,essv5081671,essv5004578,essv5159492,essv5069765,essv5077684,essv5030012,essv5140091,essv5124915,essv5122243,essv5070703,essv5006504,essv5153378,essv5025646,essv5098011,essv5137998,essv5074098,essv5083693,essv5092580,essv5032971,essv5091673,essv5158163,essv5037030,essv5047136,essv5046904,essv5069830,essv5145524,essv5041444,essv5041944,essv5031824,essv5156137,essv5108708,essv5120863,essv5123609,essv5129458,essv5052719,essv5084349,essv5003154,essv5054789,essv5115689,essv5130331,essv5065639,essv5048823,essv5064793,essv5036410,essv5095344,essv5109168,essv5142806,essv5013376,essv5113071,essv5156776,essv5148035,essv5075117,essv5024827,essv5014148,essv5152086,essv5130787,essv5021096,essv5008239,essv5047469,essv5108955,essv5013925,essv5134766,essv5075939,essv5155298,essv5080894,essv5113143,essv5046577,essv5063861,essv5107935,essv5116975,essv5066362,essv5159372,essv5033422,essv5153335,essv5099506,essv5078021,essv5142080,essv5064132,essv5054245,essv5105200,essv5101122,essv5124072,essv5089621,essv5154922,essv5054691,essv5075246,essv5102409,essv5143126,essv5091092,essv5111006,essv5036739,essv5145319,essv5152423,essv5144798,essv5135482,essv5117192,essv5158721,essv5023760,essv5122161,essv5053366,essv5093012,essv5039809,essv5087947,essv5113861,essv5011112,essv5122336,essv5084178,essv5098746,essv5102519,essv5137201,essv5112545,essv5097189,essv5099116,essv5060588,essv5070058,essv5157599,essv5080809,essv5102874,essv5027885,essv5104354,essv5144298,essv5012105,essv5148254,essv5068113,essv5150912,essv5155963,essv5028445,essv5125414,essv5065946,essv5006731,essv5034712,essv5099725,essv5050963,essv5063674,essv5058511,essv5035149,essv5018827,essv5106014,essv5074519,essv5017585,essv5134686,essv5113721,essv5084908,essv5003599,essv5160095,essv5100568,essv5021673,essv5098995,essv5122593,essv5121802,essv5110752,essv5091373,essv5075374,essv5134763,essv5027256,essv5129352,essv5025187,essv5088539,essv5056875,essv5044599,essv5145164,essv5064202,essv5151729,essv5104493,essv5039756,essv5129014,essv5130915,essv5062245,essv5021567,essv5152344,essv5078489,essv5100966,essv5031632,essv5091437,essv5064800,essv5155764,essv5023633,essv5069249,essv5048668,essv5032497,essv5108641,essv5064250,essv5062879,essv5136078,essv5009587,essv5089345,essv5143232,essv5072714,essv5066410,essv5011220,essv5084626,essv5025107,essv5147170,essv5129102,essv5027524,essv5028045,essv5066759,essv5135437,essv5044056,essv5118214,essv5028829,essv5020273,essv5146291,essv5032633,essv5076189,essv5032191,essv5005860,essv5102284,essv5114875,essv5026405,essv5152170,essv5103166,essv5129122,essv5048679,essv5127026,essv5141632,essv5038833,essv5118524,essv5014454,essv5151970,essv5124583,essv5144946,essv5157610,essv5077118,essv5145604,essv5041527,essv5027393,essv5055097,essv5120900,essv5078005,essv5084662,essv5149918,essv5098182,essv5079537,essv5005138,essv5111569,essv5133086,essv5132270,essv5038162,essv5102090,essv5161147,essv5060372,essv5012388,essv5092629,essv5061624,essv5057382,essv5041041,essv5033274,essv5160009,essv5094600,essv5158945,essv5110179,essv5160922,essv5141291,essv5154018,essv5115899,essv5076434,essv5056705,essv5049703,essv5135103,essv5014512,essv5148285,essv5145317,essv5116006,essv5010208,essv5140750,essv5023550,essv5082134,essv5140601,essv5140539,essv5136317,essv5043963,essv5067219,essv5156624,essv5085026,essv5062449,essv5046968,essv5057991,essv5132136,essv5023274,essv5046078,essv5153776,essv5124984,essv5156188,essv5043679,essv5141663,essv5132296,essv5064606,essv5015980,essv5011483,essv5008078,essv5118195,essv5072105,essv5024390,essv5105286,essv5159765,essv5012369,essv5070738,essv5123157,essv5049707,essv5139813,essv5135403,essv5111528,essv5034856,essv5076983,essv5134566,essv5013869,essv5014048,essv5152093,essv5064861,essv5090687,essv5059795,essv5151808,essv5011407,essv5044982,essv5147720,essv5083373,essv5100355,essv5134288,essv5091381,essv5107340,essv5079141,essv5129823,essv5148816,essv5107246,essv5123297,essv5070855,essv5043030,essv5103470,essv5106139,essv5101115,essv5108058,essv5056418,essv5003115,essv5054247,essv5068624,essv5070910,essv5108503,essv5032802,essv5137641,essv5091995,essv5079197,essv5010998,essv5084019,essv5132179,essv5009077,essv5031292,essv5028127,essv5154967,essv5154339,essv5026383,essv5055923,essv5064957,essv5020358,essv5065219,essv5148607,essv5097197,essv5028655,essv5016980,essv5009166,essv5048421,essv5083296,essv5103896,essv5154588,essv5083893,essv5094551,essv5011533,essv5112136,essv5026001,essv5054209,essv5003447,essv5056433,essv5012758,essv5110860,essv5053073,essv5037234,essv5009098,essv5142538,essv5158149,essv5125261,essv5064598,essv5052263,essv5059159,essv5024765,essv5157010,essv5114596,essv5150673,essv5052310,essv5035965,essv5016483,essv5084870,essv5101023,essv5106965,essv5079610,essv5037473,essv5013597,essv5004088,essv5023552,essv5096126,essv5148705,essv5158503,essv5161091,essv5089132,essv5073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M 1184 0 823 "" 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NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20802,NA20803,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20812,NA20813,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20853,NA20854,NA20856,NA20858,NA20859,NA20862,NA20866,NA20869,NA20870,NA20871,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20883,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21301,NA21302,NA21303,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21320,NA21336,NA21339,NA21344,NA21352,NA21355,NA21357,NA21360,NA21365,NA21366,NA21367,NA21378,NA21381,NA21383,NA21385,NA21387,NA21391,NA21402,NA21403,NA21405,NA21408,NA21414,NA21415,NA21418,NA21421,NA21423,NA21425,NA21434,NA21435,NA21436,NA21448,NA21451,NA21453,NA21455,NA21457,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21493,NA21494,NA21509,NA21512,NA21513,NA21514,NA21517,NA21523,NA21528,NA21573,NA21576,NA21577,NA21578,NA21580,NA21582,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21613,NA21615,NA21617,NA21619,NA21620,NA21647,NA21648,NA21682,NA21683,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21733,NA21738,NA21741,NA21768,NA21776,NA21784,NA21826 nsv442996 6 103844669 103868754 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33808 6 103845112 103868183 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98685,essv97609,essv100892,essv98142,essv94695,essv101355,essv94475,essv96936,essv95625,essv95476,essv93107,essv99047,essv93631,essv100097,essv99698,essv99332,essv98472 M 51 17 0 "" 21606,21616,21656,21772,21791,21805,21808,21817,21841,21847,21863,21938,21972,22086,22217,22275,22352 dgv126n17 6 103845442 103874049 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437011,nsv437009,nsv437521,nsv437012,nsv437010 M 60 0 5 "" NA10846,NA10863,NA12753,NA12878,NA19100 nsv514382 6 103850984 103861168 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627834 S 1414 0 1 "" nsv823811 6 103856990 103868469 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435913 S 31 0 1 "" NA18566 nsv886500 6 103881999 103944441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569265 S 6533 0 1 "" IS31554 nsv7948 6 103885514 103891644 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17460 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv349717 6 103938719 103938719 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368295 M 24 "" nsv886501 6 104013751 104062182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518553 S 6533 0 1 "" SP57690 dgv6967n71 6 104030893 104086057 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886502,nsv886503 M 6533 0 2 "" SP57314,SP57983 esv2492421 6 104034061 104036446 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336977 S 1 0 1 "" NA18507 esv2593551 6 104038671 104053409 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239233 S 1 0 1 "" NA18507 nsv830750 6 104049995 104244359 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445536 S 95 1 0 "" nsv886504 6 104055620 104137237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580178,nssv1566751,nssv1567955,nssv1585013 M 6533 0 4 "" IS30899,IS31179,IS35236,IS37226 nsv886505 6 104075685 104129333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586693 S 6533 1 0 "" IS37946 nsv526882 6 104086057 104093395 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703240 S 2026 1 0 "" nsv886506 6 104086057 104138578 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579298 S 6533 0 1 "" IS35083 nsv818448 6 104093395 104099986 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416940,nssv1416938 M 112 0 2 "" NA19137,NA19139 nsv442005 6 104096781 104100508 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516048 6 104097165 104099986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658514,nssv692949,nssv677329,nssv667367,nssv665880 M 2026 0 5 "" nsv818449 6 104097165 104099986 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418279,nssv1418280 M 112 1 1 "" NA19092,NA19093 nsv886507 6 104114069 104147362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551772 S 6533 0 1 "" MS18978 nsv523440 6 104161965 104163815 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699196 S 2026 0 1 "" nsv5416 6 104200709 104245777 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8280 S 9 0 1 "" NA12156 esv2542192 6 104288786 104290337 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227852 S 1 0 1 "" NA18507 esv2220304 6 104289700 104290395 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693877 S 1 0 1 "" NA18507 esv3837 6 104289801 104290260 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26278 S 1 0 1 Single Asian sample YH "" YH nsv348529 6 104295023 104295078 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367107 M 24 "" nsv886508 6 104330570 104381177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558985 S 6533 0 1 "" MS23670 nsv886509 6 104339213 104745812 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554315 S 6533 0 1 "" MS20718 nsv519440 6 104377426 104410496 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696856 S 2026 0 1 "" nsv5417 6 104402715 104447089 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2607 S 9 0 1 "" NA18555 nsv464004 6 104402947 104425902 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540007 S 1557 0 1 "" 1780862404_A nsv830751 6 104428481 104566948 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445537 S 95 1 0 "" esv268965 6 104437723 104438101 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497120 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv520377 6 104441372 104569248 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663384,nssv693195,nssv695935 M 2026 0 3 "" esv271447 6 104457241 104457582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557864,essv2546532,essv2525903,essv2536473,essv2522979,essv2570774,essv2545632,essv2531972,essv2525239,essv2535325,essv2554079,essv2552129,essv2520376,essv2547397,essv2564617,essv2576228,essv2530550,essv2537500,essv2528631,essv2546760,essv2557387,essv2550145,essv2543012,essv2540632,essv2524756,essv2560993,essv2539534,essv2549374,essv2522004,essv2565987,essv2532513,essv2570063,essv2563659,essv2559064,essv2555447,essv2566346,essv2531458,essv2543110,essv2577059,essv2538478,essv2536300,essv2548991,essv2554676,essv2547635,essv2563133 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA10847,NA10851,NA11881,NA11918,NA11920,NA11931,NA11993,NA12003,NA12006,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12751,NA12814,NA12873,NA12878,NA12891,NA12892,NA18499,NA18511,NA18550,NA18552,NA18555,NA18562,NA18563,NA18564,NA18571,NA18572,NA18576,NA18593,NA18603,NA18638,NA18943,NA18948,NA18961,NA18965,NA18970,NA19108 esv274103 6 104457241 104457582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583908,essv2583351 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv5418 6 104475045 104510057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3463 S 9 1 0 "" NA12878 nsv830752 6 104539718 104712824 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445539,nssv1445541,nssv1445538 M 95 1 2 "" esv8167 6 104549433 104549491 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30608 S 1 1 0 "" SJK esv2437142 6 104596695 104597438 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233386 S 1 1 0 "" NA18507 esv270170 6 104597338 104597423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517398,essv2515483,essv2518631,essv2514208,essv2513842 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12249,NA12287,NA12874,NA19143 esv33050 6 104601060 104606797 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100762 S 51 1 0 "" 21656 nsv886510 6 104616077 104652335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516122 S 6533 0 1 "" SP56458 nsv518256 6 104619535 104630753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695686 S 2026 0 1 "" nsv830753 6 104729983 104926007 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445542 S 95 1 0 "" nsv886511 6 104790187 104880442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534283 S 6533 0 1 "" MS11522 nsv523299 6 104803799 104813272 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699039 S 2026 0 1 "" esv1739665 6 104821921 104821921 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086657 S 2 1 0 "" HuRef esv270425 6 104866894 104867100 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516474 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv2572837 6 104878739 104879748 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306195 S 1 1 0 "" NA18507 esv274452 6 104879311 104879469 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580565,essv2579707 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267619 6 104879330 104879656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565874,essv2571694,essv2546205,essv2542244,essv2536484,essv2522955,essv2543831,essv2556690,essv2568372,essv2545454,essv2531749,essv2577604,essv2570436,essv2521804,essv2576644,essv2550569,essv2525493,essv2550389,essv2535009,essv2554181,essv2544274,essv2552023,essv2520310,essv2547461,essv2529247,essv2558696,essv2577816,essv2553847,essv2559587,essv2565300,essv2564115,essv2554834,essv2530660,essv2561918,essv2539971,essv2520841,essv2557303,essv2556887,essv2552547,essv2532299,essv2562574,essv2569327,essv2578755,essv2550121,essv2536921,essv2539183,essv2569737,essv2527092,essv2544618,essv2563064,essv2523733,essv2553108,essv2541193,essv2542685,essv2540672,essv2524359,essv2534790,essv2561107,essv2539647,essv2519567,essv2559960,essv2522118,essv2565986,essv2531205,essv2528762,essv2567340,essv2541670,essv2570031,essv2563932,essv2553223,essv2535723,essv2572351,essv2559398,essv2566725,essv2542086,essv2568868,essv2543499,essv2539505,essv2533896,essv2573076,essv2555261,essv2533708,essv2555761,essv2566505,essv2530107,essv2573858,essv2527717,essv2555890,essv2522345,essv2573605,essv2543034,essv2525591,essv2526810,essv2529709,essv2575663,essv2575153,essv2526356,essv2560587,essv2524104,essv2560883,essv2574910,essv2572782,essv2568681,essv2545153,essv2549833,essv2571463,essv2536018,essv2538123,essv2548917,essv2554805,essv2547673,essv2524865,essv2563403 M 157 113 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10847,NA11829,NA11840,NA11881,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12828,NA12872,NA12873,NA12874,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18912,NA18916,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18956,NA18960,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19137,NA19138,NA19143,NA19147,NA19172,NA19225,NA19238 esv1700160 6 104879362 104879362 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656191 S 2 1 0 "" HuRef nsv886512 6 104927329 105013956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535150 S 6533 1 0 "" MS12041 nsv886513 6 104927329 105237794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527364 S 6533 0 1 "" SP58387 nsv886514 6 104985242 105051292 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552223 S 6533 1 0 "" MS19292 nsv464005 6 105003611 105037476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540008 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00572 nsv464007 6 105003611 105041172 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540010 S 1557 1 0 "" 1798860306_A dgv6968n71 6 105003611 105050116 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886518,nsv886517,nsv886516 M 6533 8 0 "" IS30589,IS34019,IS35499,IS41739,IS41888,MS10638,SP56085,SP56319 dgv6969n71 6 105003611 105051292 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv886519,nsv886515 M 6533 18 2 "" IS30960,IS32864,IS33073,IS34057,IS34648,IS34680,IS35640,IS35974,IS38291,IS38466,IS38522,IS38538,IS38688,IS40473,MS12837,MS18021,MS22807,MS23301,SP54217,SP56663 esv28107 6 105012170 105050061 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20163 S 451 0 1 "" NA19190 dgv6970n71 6 105013956 105051292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886520,nsv886521 M 6533 2 0 "" IS41863,SP53625 dgv781n27 6 105017541 105041172 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464009,nsv464018,nsv464019,nsv464014,nsv464010,nsv464015,nsv464016,nsv464012,nsv464013 M 1557 9 0 "" 1780862042_A,HGDP00573,HGDP00601,HGDP00606,HGDP00611,HGDP01067,HGDP01076,HGDP01399,NINDS_228 dgv782n27 6 105017541 105041172 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464008,nsv464011 M 1557 0 2 "" HGDP00218,HGDP00653 nsv470854 6 105023257 105041172 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544722,nssv544723 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00572,HGDP00653 nsv516341 6 105023257 105051292 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693355,nssv671421,nssv680561,nssv656151,nssv684550,nssv675749,nssv667692,nssv692822,nssv662609,nssv660095 M 2026 10 0 "" nsv470853 6 105023257 105054832 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544720,nssv544719,nssv544717,nssv544718 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00573,HGDP00585,HGDP00606,HGDP00611 nsv886522 6 105054832 105287478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600134 S 6533 0 1 HACE1 IS41847 nsv5419 6 105131540 105175931 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4605 S 9 0 1 "" NA19129 nsv886523 6 105196358 105318053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574936 S 6533 0 1 HACE1 IS33669 nsv5420 6 105242744 105289259 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6082 S 9 0 1 HACE1 NA12156 nsv515026 6 105269472 105269560 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627041 S 1414 0 0 "" nsv886524 6 105271306 105352114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551773,nssv1582350,nssv1567361,nssv1554614 M 6533 0 4 HACE1 IS31070,IS35911,MS18978,MS20872 dgv6971n71 6 105271306 105418309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886526,nsv886527,nsv886525 M 6533 0 9 HACE1 IS30490,IS30522,IS30635,IS30899,IS31179,IS31330,IS31758,IS32615,IS33616 nsv464020 6 105280227 105407263 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540023 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HACE1 HGDP00169 esv2463529 6 105281469 105283133 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309268 S 1 0 1 HACE1 NA18507 esv2191943 6 105281915 105282447 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575389 S 1 0 1 "" NA18507 esv1335233 6 105282129 105282305 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802802 S 2 0 1 "" HuRef dgv2000e1 6 105302783 105806657 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24052,essv19882,esv502,essv17664 M 271 0 0 BVES,C6orf112,HACE1,LIN28B,POPDC3 NA10859,NA11881 nsv886528 6 105305511 105385119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522890 S 6533 0 1 HACE1 SP53493 esv2518204 6 105328083 105329680 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238105 S 1 0 1 HACE1 NA18507 esv1963512 6 105328555 105329152 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526541 S 1 0 1 HACE1 NA18507 nsv5422 6 105332220 105376762 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4936 S 9 0 1 HACE1 NA19129 nsv5423 6 105334881 105368499 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv572 S 9 1 0 HACE1 NA19240 nsv823812 6 105339902 105341334 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432112 S 31 1 0 HACE1 AK20 nsv511348 6 105365680 105372811 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625766 S 1 0 1 HACE1 1 nsv7949 6 105366523 105378101 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17490 S 31 0 1 Samples from several populations that are part of the HapMap project. HACE1 NA19221 nsv511909 6 105367165 105370479 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624445 S 1 0 1 HACE1 1 esv27932 6 105367477 105369570 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19098 S 451 0 19 HACE1 NA11894,NA11995,NA12004,NA12006,NA12044,NA12156,NA12489,NA12749,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18916,NA19099,NA19129,NA19147 nsv499549 6 105367519 105370453 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585998 S 9 0 1 HACE1 nsv514383 6 105367696 105369192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627835 S 1414 0 1 HACE1 dgv216e55 6 105439613 105694320 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34842,esv34996 M 771 2 0 BVES,C6orf112,LIN28B NA10859,NA11881 essv19736 6 105439613 105725669 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. BVES,C6orf112,LIN28B,POPDC3 NA10859 nsv818450 6 105445489 105692204 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418079,nssv1418078 M 112 2 0 BVES,LIN28B NA10859,NA11881 esv23149 6 105495062 105496689 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11518 S 451 0 1 "" NA07045 nsv830754 6 105506886 105701670 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445543 S 95 1 0 BVES,C6orf112,LIN28B esv2614469 6 105673961 105675578 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374642 S 1 0 1 BVES NA18507 esv1920969 6 105674332 105675058 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585381 S 1 0 1 BVES NA18507 esv3772 6 105674491 105675019 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26213 S 1 0 1 Single Asian sample YH BVES YH esv993961 6 105674536 105674870 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576896 S 3 0 1 BVES HuRef esv6261 6 105674546 105674866 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28702 S 1 0 1 BVES SJK nsv886529 6 105679797 105849335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582114 S 6533 0 1 BVES,C6orf112,POPDC3,PREP IS35789 nsv7950 6 105690707 105693122 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16791 S 31 1 0 Samples from several populations that are part of the HapMap project. BVES,C6orf112 NA18860 esv2101459 6 105735552 105735940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809303 S 1 0 1 "" NA18507 nsv7951 6 105748494 105754351 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17520 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv516715 6 105758864 105768143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670377,nssv680056 M 2026 0 2 "" nsv7952 6 105764784 105767408 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14570 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 nsv5424 6 105764990 105795130 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11133 S 9 1 0 "" NA15510 esv7369 6 105861853 105862521 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29810 S 1 0 0 PREP SJK esv28038 6 105863437 105863973 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10520 S 451 0 1 PREP NA18505 nsv886530 6 105902519 105955716 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582115 S 6533 0 1 PREP IS35789 nsv522108 6 106078743 106089932 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694880 S 2026 0 1 "" nsv523345 6 106098610 106102241 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699094 S 2026 1 0 "" nsv5425 6 106124905 106156675 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10513 S 9 1 0 "" NA18956 esv1006531 6 106148821 106160212 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565298 S 3 0 1 "" HuRef nsv5426 6 106203960 106249139 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8281 S 9 0 1 "" NA12156 esv25837 6 106261337 106264144 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13233 S 451 0 1 "" NA19240 esv1575076 6 106385588 106385721 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232372 S 2 0 1 "" HuRef nsv5427 6 106404843 106449395 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2610 S 9 0 1 "" NA18555 nsv348861 6 106450082 106453886 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367439 M 24 "" nsv5428 6 106461084 106495281 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8282 S 9 1 0 "" NA12156 esv2168723 6 106463988 106464405 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729641 S 1 0 1 "" NA18507 nsv349367 6 106464179 106464233 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367945 M 24 "" esv28957 6 106510544 106512924 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11087 S 451 0 3 "" NA18505,NA19099,NA19147 nsv830755 6 106568398 106730895 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445544 S 95 0 1 PRDM1 esv268396 6 106608774 106608947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496871,essv2510735,essv2494836,essv2494914,essv2507013 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18519,NA18520,NA19102 nsv349815 6 106615689 106615786 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368393 M 24 "" nsv5429 6 106651899 106681954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv573 S 9 1 0 PRDM1 NA19240 dgv391n21 6 106782512 106810311 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521859,nsv520329 M 2026 3 0 ATG5 esv26469 6 106804092 106808171 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14940 S 451 1 0 ATG5 NA12044 esv2615044 6 106805747 106806797 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223084 S 1 1 0 ATG5 NA18507 esv24511 6 106876398 106877460 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19239 S 451 0 2 ATG5 NA12489,NA18511 nsv823813 6 106931220 106935997 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438204,nssv1427539 M 31 0 2 "" AK8,NA18951 nsv5430 6 106941979 106965192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4937 S 9 1 0 "" NA19129 esv2456325 6 107034546 107036060 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341031 S 1 0 1 "" NA18507 esv2339713 6 107035353 107035957 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996118 S 1 0 1 "" NA18507 esv3585 6 107035421 107036140 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26026 S 1 0 1 Single Asian sample YH "" YH esv8392 6 107035510 107035861 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30833 S 1 0 1 "" SJK nsv348554 6 107035526 107035841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367132 M 24 "" esv259556 6 107036305 107036968 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394074,essv2394256 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv259869 6 107036364 107037029 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397704,essv2397461,essv2396156,essv2397024,essv2400506 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18520,NA18523,NA19239,NA19240 esv26399 6 107087917 107089416 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15497 S 451 1 0 AIM1 NA19114 esv2481074 6 107089379 107091039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165053 S 1 0 1 AIM1 NA18507 esv2278880 6 107090132 107090849 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855369 S 1 0 1 AIM1 NA18507 esv5031 6 107090274 107090722 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27472 S 1 0 1 Single Asian sample YH AIM1 YH esv1180121 6 107090329 107090648 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960937 S 2 0 1 AIM1 HuRef esv6147 6 107090334 107090639 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28588 S 1 0 1 AIM1 SJK esv2499647 6 107143202 107144242 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299503 S 1 1 0 RTN4IP1 NA18507 nsv516902 6 107211067 107222087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678541,nssv676647,nssv692586,nssv682470,nssv654786 M 2026 0 5 QRSL1 esv268749 6 107226914 107227217 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494319,essv2504203,essv2509687,essv2500901,essv2498551,essv2509490,essv2493883,essv2501874 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18508,NA18856,NA18858,NA19129,NA19210,NA19239 esv273964 6 107226934 107227275 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580870 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv2608808 6 107230391 107231890 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275521 S 1 0 1 "" NA18507 esv989863 6 107230495 107231590 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565140 S 3 0 1 "" HuRef esv2180999 6 107231039 107231723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717672 S 1 0 1 "" NA18507 esv1383429 6 107231225 107231538 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961041 S 2 0 1 "" HuRef nsv7383 6 107237698 107277239 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9697 S 9 0 0 LOC100422737 NA18507 esv997749 6 107267859 107286541 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564891 S 3 0 0 LOC100422737 HuRef nsv513667 6 107273669 107278164 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626919 S 1 0 0 LOC100422737 1 dgv114n16 6 107274171 107276777 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435961,nsv436678 M 2 0 0 LOC100422737 NA15510,NA18505 esv2429041 6 107275286 107278133 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233500 S 1 0 0 LOC100422737 NA18507 esv1667826 6 107275899 107277573 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361689 S 2 0 0 LOC100422737 HuRef nsv513668 6 107275948 107278586 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626920 S 1 0 0 LOC100422737 1 nsv435987 6 107277365 107278161 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466310 S 2 0 0 LOC100422737 NA15510 nsv886531 6 107279093 107326784 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553200 S 6533 0 1 LOC100422737 MS19808 nsv830756 6 107334854 107409954 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445545 S 95 0 1 LOC100422737 esv1927786 6 107378762 107379131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4874679 S 1 0 1 "" NA18507 nsv508425 6 107392574 107463989 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622556 S 4 0 1 C6orf203 NA18994 nsv509145 6 107392574 107463989 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620859 S 4 1 0 C6orf203 NA15510 nsv510909 6 107392574 107463989 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622376,nssv618653 M 4 0 0 C6orf203 CHM,NA10860 dgv87n68 6 107424877 107624768 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv830757,nsv830761 M 95 0 4 BEND3,C6orf203,PDSS2 nsv5431 6 107454507 107488784 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3465 S 9 1 0 C6orf203 NA12878 nsv521601 6 107506050 107506663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694464 S 2026 0 1 BEND3 esv1657137 6 107513575 107513871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790111 S 2 0 1 BEND3 HuRef dgv1063n67 6 107535678 107545918 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823815,nsv823814 M 31 2 0 BEND3 AK10,AK6 esv27390 6 107542201 107543627 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14337 S 451 0 2 BEND3 NA07045,NA19190 nsv525833 6 107546250 107556334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702023 S 2026 0 1 "" nsv516308 6 107555373 107556334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674393,nssv667474,nssv691684 M 2026 0 3 "" nsv516771 6 107582911 107588154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692857,nssv660417,nssv670741 M 2026 0 3 PDSS2 esv1000677 6 107612504 107623864 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565822 S 3 0 1 PDSS2 HuRef esv26284 6 107651479 107652999 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11778 S 451 0 6 PDSS2 NA18508,NA18909,NA19147,NA19190,NA19225,NA19240 nsv830762 6 107760644 107958887 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445550 S 95 1 0 PDSS2,SOBP esv1575074 6 107830383 107830383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936947 S 2 1 0 PDSS2 HuRef esv2629723 6 107864036 107865548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348149 S 1 0 1 PDSS2 NA18507 nsv830763 6 107962340 108147797 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445552 S 95 1 0 SCML4,SOBP nsv349993 6 108082694 108082694 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368571 M 24 SOBP nsv830764 6 108095403 108271402 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445553 S 95 1 0 SCML4 nsv464022 6 108104835 108124555 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540024 S 1557 0 1 "" 1780862226_A esv23033 6 108132828 108143670 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12821,esv17019,esv20830 M 451 7 0 SCML4 NA07045,NA11993,NA11995,NA12414,NA18858,NA19099,NA19129 esv2640753 6 108137717 108139645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221954 S 1 0 1 SCML4 NA18507 nsv511910 6 108137824 108139198 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624446 S 1 0 1 SCML4 1 esv2057606 6 108137868 108139246 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517540 S 1 0 1 SCML4 NA18507 esv6501 6 108138029 108139094 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28942 S 1 0 1 SCML4 SJK nsv349488 6 108138036 108139079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368066 M 24 SCML4 nsv820392 6 108138045 108139210 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420601 S 1 0 1 SCML4 NA10851 esv1367877 6 108211010 108211402 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244915 S 2 0 1 SCML4 HuRef nsv830765 6 108218104 108409471 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445554 S 95 0 1 SCML4,SEC63 esv23668 6 108290395 108293007 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9838,esv13296,esv18092 M 451 15 0 "" NA06985,NA07045,NA11993,NA12044,NA12287,NA18502,NA18505,NA18517,NA18858,NA18907,NA18909,NA18916,NA19099,NA19129,NA19225 nsv823816 6 108354592 108355434 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440463,nssv1436679 M 31 0 2 SEC63 NA18542,NA18547 esv2438036 6 108372104 108373598 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378390 S 1 0 1 SEC63 NA18507 esv2274293 6 108372599 108373219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698018 S 1 0 1 SEC63 NA18507 esv3718 6 108372756 108373150 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26159 S 1 0 1 Single Asian sample YH SEC63 YH esv2513800 6 108372805 108373107 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303835 S 1 0 1 SEC63 NA18507 esv7155 6 108372811 108373105 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29596 S 1 0 1 SEC63 SJK esv1260742 6 108372814 108373117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138917 S 2 0 1 SEC63 HuRef nsv348411 6 108372815 108373117 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv366989 M 24 SEC63 nsv820169 6 108471599 108471903 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418571 S 2 0 1 OSTM1 AK1 nsv830766 6 108594506 108770399 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445557,nssv1445556,nssv1445555 M 95 0 3 LACE1,NR2E1,SNX3 nsv515515 6 108718559 108719760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656440,nssv670619,nssv675514,nssv676622,nssv660361,nssv670127,nssv654871,nssv656938,nssv682387,nssv671422,nssv672817,nssv688287,nssv693073,nssv657353,nssv689816,nssv664188,nssv659058,nssv693792,nssv662282,nssv685915,nssv673955,nssv671330,nssv672034,nssv668495,nssv653414,nssv656173 M 2026 0 26 "" esv2421456 6 108718559 108721045 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5066185,essv5076299,essv5031475,essv5046094,essv5159578,essv5146708,essv5080265,essv5058897,essv5007272,essv5037294,essv5028120,essv5140254,essv5011344,essv5122368,essv5096178,essv5027625,essv5029694,essv5038015,essv5083465,essv5085462,essv5049358 M 1184 0 21 "" NA12777,NA19676,NA19677,NA19722,NA20505,NA20538,NA20543,NA20766,NA20775,NA20787,NA20888,NA20894,NA21088,NA21302,NA21303,NA21364,NA21587,NA21608,NA21614,NA21615,NA21632 nsv830767 6 108904464 109095612 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445558 S 95 1 0 FOXO3,LACE1 nsv823817 6 108984458 108990548 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433704 S 31 1 0 FOXO3 NA18526 esv22566 6 108985663 108989905 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17507 S 451 0 1 FOXO3 NA07045 esv2651848 6 109038727 109040088 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278209 S 1 0 1 FOXO3 NA18507 nsv5433 6 109070186 109098842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2611 S 9 1 0 FOXO3 NA18555 nsv5434 6 109120501 109155068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2730 S 9 1 0 "" NA18555 esv2547647 6 109145941 109147320 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375818 S 1 0 1 "" NA18507 esv1930648 6 109146589 109147216 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709025 S 1 0 1 "" NA18507 nsv518105 6 109186199 109186957 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695518 S 2026 0 1 LINC00222 nsv517871 6 109214461 109216789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695277 S 2026 0 1 "" nsv830768 6 109283961 109464293 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445559 S 95 1 0 ARMC2,SESN1 nsv886532 6 109388313 109490352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515248 S 6533 0 1 ARMC2,SESN1 SP56143 esv993225 6 109535615 109536423 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583763 S 3 0 1 CEP57L1 HuRef nsv527657 6 109640078 109686368 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704128 S 2026 1 0 "" esv270886 6 109648541 109648626 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515835 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18969 esv999906 6 109691462 109694753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565056 S 3 0 1 "" HuRef nsv527719 6 109731630 109738302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704200 S 2026 0 1 CCDC162P nsv5435 6 109739728 109775820 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6083 S 9 0 1 "" NA12156 esv33427 6 109858150 109858902 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99461 S 51 0 1 PPIL6 22335 nsv823818 6 109863915 109867987 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426725 S 31 1 0 PPIL6 AK6 nsv510045 6 109909952 109915952 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618242 S 4 0 1 ZBTB24 CHM nsv510046 6 109949909 109955909 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622124,nssv624013,nssv618243,nssv621289 M 4 0 4 AKD1 CHM,NA10860,NA15510,NA18994 nsv7953 6 109991846 110000256 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14605 S 31 0 1 Samples from several populations that are part of the HapMap project. AKD1 NA18980 nsv830769 6 110051027 110184813 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445560 S 95 1 0 AKD1,FIG4 nsv5436 6 110159505 110204355 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8283 S 9 0 1 FIG4 NA12156 nsv886533 6 110174466 110233086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593670 S 6533 0 1 FIG4 IS39475 esv272669 6 110209645 110209960 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578914 S 7 1 0 Samples from several populations that are part of the HapMap project. FIG4 NA19239 esv270954 6 110209662 110209975 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558099,essv2565723,essv2575953,essv2540717,essv2526144,essv2542381,essv2544011,essv2571047,essv2568340,essv2545442,essv2523397,essv2532028,essv2570738,essv2548525,essv2521772,essv2576876,essv2550586,essv2525345,essv2554205,essv2544466,essv2552100,essv2547507,essv2529114,essv2558610,essv2564690,essv2577848,essv2553576,essv2559460,essv2565259,essv2564116,essv2530709,essv2537314,essv2528295,essv2546937,essv2520792,essv2552652,essv2551943,essv2569302,essv2558864,essv2544644,essv2541275,essv2540361,essv2524601,essv2561068,essv2522015,essv2532625,essv2567731,essv2528824,essv2541661,essv2569953,essv2563564,essv2553349,essv2572296,essv2559183,essv2572935,essv2555259,essv2533733,essv2555791,essv2566646,essv2529917,essv2573799,essv2557702,essv2555862,essv2531309,essv2543161,essv2525779,essv2560810,essv2545112,essv2535965,essv2548996,essv2554369,essv2547794,essv2525191,essv2563108 M 157 74 0 Samples from several populations that are part of the HapMap project. FIG4 NA06986,NA07037,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11918,NA11919,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12873,NA12878,NA12891,NA12892,NA18498,NA18502,NA18504,NA18508,NA18516,NA18526,NA18545,NA18552,NA18555,NA18562,NA18571,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18953,NA18956,NA18961,NA18965,NA18980,NA19137,NA19172 nsv5437 6 110229265 110262685 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3466 S 9 1 0 FIG4 NA12878 nsv823819 6 110266878 110268338 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436680 S 31 0 1 "" NA18542 esv2632854 6 110278265 110281248 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368916 S 1 0 1 "" NA18507 esv2331041 6 110279230 110281311 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608018 S 1 0 1 "" NA18507 esv272122 6 110314437 110314581 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506092,essv2505342,essv2507395,essv2497582,essv2499681,essv2512114,essv2498010 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18853,NA18912,NA19147,NA19225,NA19238,NA19240 esv272348 6 110314441 110314740 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580258,essv2580421,essv2580012 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv523774 6 110338744 110395469 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699596 S 2026 0 1 "" nsv886534 6 110338744 110396286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587312 S 6533 0 1 "" IS38008 nsv5438 6 110346163 110376808 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4938 S 9 1 0 "" NA19129 esv2137429 6 110369058 110369478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915739 S 1 0 1 "" NA18507 nsv526261 6 110388400 110392108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702533 S 2026 0 1 "" nsv823821 6 110405864 110408049 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429869 S 31 1 0 GPR6 AK14 esv989582 6 110431777 110442886 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564238 S 3 0 1 "" HuRef dgv392n21 6 110443436 110443986 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525103,nsv516554 M 2026 0 9 "" esv259661 6 110459433 110459706 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393695,essv2394263 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv886535 6 110483699 110658156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579837,nssv1567671,nssv1586291,nssv1592557 M 6533 0 4 CDC40,WASF1 IS31137,IS35181,IS37730,IS39243 dgv2001e1 6 110496619 110611373 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18881,esv1151,essv21946 M 271 0 0 CDC40,WASF1 NA07000,NA07029 nsv7954 6 110502679 110520058 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14492 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 esv33686 6 110502812 110520003 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100244,essv100307 M 51 0 2 "" 22286,22300 nsv886536 6 110532739 110609524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576041 S 6533 0 1 CDC40,WASF1 IS33864 esv267753 6 110557433 110557780 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502232 S 157 1 0 Samples from several populations that are part of the HapMap project. WASF1 NA19257 nsv348708 6 110570870 110575241 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367286 M 24 WASF1 nsv436521 6 110581366 110588094 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466312 S 2 0 1 Samples from several populations that are part of the HapMap project. WASF1 NA18505 esv33528 6 110583102 110589000 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100857 S 51 0 1 WASF1 21656 nsv5439 6 110643193 110678349 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv575 S 9 1 0 C6orf186,CDC40 NA19240 esv25776 6 110676417 110678584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14089 S 451 0 2 C6orf186 NA12006,NA12414 esv2162143 6 110730223 110730654 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607653 S 1 0 1 C6orf186 NA18507 nsv516397 6 110843077 110854442 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668062,nssv668023 M 2026 2 0 DDO,SLC22A16 nsv823822 6 110844501 110846443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436681 S 31 0 1 "" NA18542 esv1560945 6 110882740 110882740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842263 S 2 1 0 SLC22A16 HuRef esv268342 6 110921828 110921913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515382 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv830770 6 110941778 111130824 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445561 S 95 0 1 CDK19 esv1007735 6 111028608 111029559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565728 S 3 1 0 "" HuRef nsv830772 6 111050019 111242190 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445563 S 95 1 0 CDK19 nsv886537 6 111098609 111264286 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549010 S 6533 1 0 CDK19 MS17974 nsv823823 6 111177774 111178422 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423456 S 31 0 1 CDK19 NA18999 nsv516177 6 111180056 111217820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666636,nssv693807 M 2026 0 2 CDK19 nsv886538 6 111180056 111522333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534859 S 6533 1 0 AMD1,CDK19,GSTM2P1,GTF3C6,RPF2,SLC16A10 MS11746 esv268054 6 111214519 111214604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517308 S 157 1 0 Samples from several populations that are part of the HapMap project. CDK19 NA18970 nsv830773 6 111241012 111413125 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445564 S 95 0 1 AMD1,CDK19,GTF3C6,RPF2 nsv819336 6 111317031 111317176 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419325 S 2 1 0 AMD1 AK1 nsv509148 6 111375271 111395332 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623484 S 4 1 0 GTF3C6 NA18994 esv989530 6 111400998 111405947 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565127 S 3 0 1 "" HuRef esv3008 6 111401816 111402263 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25449 S 1 0 1 Single Asian sample YH "" YH esv2627811 6 111451312 111452790 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351544 S 1 0 1 RPF2 NA18507 nsv5440 6 111548013 111581957 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv576 S 9 1 0 SLC16A10 NA19240 nsv5441 6 111591966 111620108 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8284 S 9 1 0 SLC16A10 NA12156 nsv509149 6 111592102 111609157 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618055 S 4 1 0 SLC16A10 CHM nsv886539 6 111633187 111851511 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539800 S 6533 1 0 KIAA1919,REV3L,SLC16A10 MS14502 nsv886540 6 111644174 111696787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570240 S 6533 0 1 KIAA1919,SLC16A10 IS31837 nsv886541 6 111672540 111846964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592558 S 6533 0 1 KIAA1919,REV3L IS39243 nsv886542 6 111735319 111794929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514430 S 6533 0 1 REV3L SP56004 nsv5442 6 111763654 111796161 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10514 S 9 1 0 REV3L NA18956 nsv349315 6 111850461 111850546 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367893 M 24 REV3L esv1005692 6 111850481 111850578 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575905 S 3 0 1 REV3L HuRef esv26203 6 112050687 112051307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21329 S 451 1 0 "" NA12414 esv6467 6 112056341 112056452 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28908 S 1 1 0 "" SJK nsv5444 6 112086359 112118705 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10515 S 9 1 0 FYN NA18956 esv2752088 6 112130000 112182000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983651,essv6983650 M 771 1 0 FYN BEC_676 esv271837 6 112256445 112256530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519261,essv2514267 M 157 2 0 Samples from several populations that are part of the HapMap project. FYN NA11894,NA12874 nsv5445 6 112258078 112302476 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4606 S 9 0 1 FYN NA19129 esv2651869 6 112309924 112311651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273479 S 1 0 1 "" NA18507 esv2172212 6 112310356 112311079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668431 S 1 0 1 "" NA18507 esv5068 6 112310485 112310937 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27509 S 1 0 1 Single Asian sample YH "" YH esv8372 6 112310544 112310863 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30813 S 1 0 1 "" SJK nsv5446 6 112313696 112343031 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9894,nssv577 M 9 0 2 "" NA18507,NA19240 nsv510905 6 112328341 112343107 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618691 S 4 0 0 "" CHM nsv511911 6 112330451 112336858 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624447 S 1 0 1 "" 1 esv2458162 6 112330691 112337328 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361940 S 1 0 1 "" NA18507 nsv436511 6 112330837 112336570 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466313 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv349467 6 112331120 112336351 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368045 M 24 "" nsv830774 6 112359297 112490708 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445565 S 95 1 0 WISP3 esv269575 6 112496690 112496791 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506028 S 157 1 0 Samples from several populations that are part of the HapMap project. WISP3 NA18523 esv274138 6 112502184 112502269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581241 S 7 1 0 Samples from several populations that are part of the HapMap project. TUBE1 NA19240 esv28804 6 112529452 112531071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19999 S 451 0 1 C6orf225 NA18916 esv26769 6 112633849 112636125 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10334,esv20219 M 451 0 2 LAMA4 NA19099,NA19240 nsv886543 6 112645158 112750361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554701 S 6533 1 0 LAMA4 MS20919 esv6826 6 112696620 112696705 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29267 S 1 1 0 "" SJK esv996276 6 112734036 112736525 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563473 S 3 1 0 "" HuRef esv23908 6 112751778 112752451 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13415 S 451 0 1 "" NA18505 nsv522587 6 112828477 112833077 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705974 S 2026 1 0 "" esv2338695 6 112876580 112876948 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4689539 S 1 0 1 "" NA18507 esv1012500 6 112956206 112956255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006561 S 2 0 1 "" HuRef esv29757 6 112981889 112986148 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19636 S 451 0 1 "" NA18505 nsv436494 6 112982011 112986370 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466314 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv524842 6 112997212 113002826 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700844 S 2026 0 1 "" esv2540074 6 113107009 113108108 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285721 S 1 1 0 "" NA18507 esv270695 6 113107503 113107899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501526,essv2499082 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19114 nsv508427 6 113214773 113233807 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619981 S 4 0 1 "" NA15510 nsv437522 6 113258756 113285727 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467403 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 esv275591 6 113271640 113277751 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585926 S 1250 0 1 "" nsv830775 6 113284541 113492383 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445585,nssv1445575,nssv1445567,nssv1445574,nssv1445569,nssv1445576,nssv1445578,nssv1445579,nssv1445580,nssv1445589,nssv1445583,nssv1445582,nssv1445581,nssv1445570,nssv1445586,nssv1445591,nssv1445590,nssv1445592,nssv1445594,nssv1445593,nssv1445596,nssv1445588,nssv1445568,nssv1445577,nssv1445566,nssv1445587,nssv1445572,nssv1445571 M 95 27 1 "" nsv516837 6 113291385 113291459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681920,nssv654348 M 2026 0 2 "" nsv830776 6 113350388 113540196 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445597 S 95 0 1 "" esv2598436 6 113375737 113377295 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240981 S 1 0 1 "" NA18507 nsv830777 6 113443711 113632100 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445598 S 95 1 0 "" esv1929687 6 113457233 113457623 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551662 S 1 0 1 "" NA18507 esv1776406 6 113457350 113457462 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937411 S 2 0 1 "" HuRef nsv886544 6 113459952 113561832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515005 S 6533 0 1 "" SP56108 esv1572191 6 113465850 113465850 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284645 S 2 1 0 "" HuRef nsv823824 6 113475140 113478127 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437479,nssv1429120 M 31 0 2 "" AK12,NA18949 nsv886545 6 113609713 113653581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575452 S 6533 0 1 "" IS33747 nsv886546 6 113622507 113701643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592922 S 6533 1 0 "" IS39320 nsv515028 6 113623376 113644152 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627043 S 1414 0 0 "" nsv516658 6 113701643 113704806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672192,nssv669941,nssv690742 M 2026 0 3 "" nsv830778 6 113768704 113836497 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445599 S 95 1 0 "" esv1043512 6 113807785 113807785 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879747 S 2 1 0 "" HuRef esv26542 6 113808504 113809828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19787 S 451 0 2 "" NA06985,NA12156 esv1231372 6 113837365 113837365 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783158 S 2 1 0 "" HuRef nsv518991 6 113867219 113906311 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696458 S 2026 1 0 "" esv25498 6 113883737 113884848 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20055 S 451 0 3 "" NA11993,NA12878,NA19190 nsv522088 6 113895049 113916278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694860 S 2026 0 1 "" esv2531347 6 113941637 113941738 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174776 S 1 0 1 "" NA18507 esv2414279 6 114006146 114006583 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514544 S 1 0 1 "" NA18507 esv1495430 6 114049609 114049691 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888671 S 2 0 1 "" HuRef esv1399814 6 114150349 114150349 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681198 S 2 1 0 "" HuRef esv1615249 6 114175284 114175284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357841 S 2 1 0 "" HuRef nsv464023 6 114178413 114220750 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540025 S 1557 0 1 "" 1780862373_A esv274574 6 114197810 114197895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581184 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv482098 6 114285220 114291345 CNV Loss Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558459 S 1 0 1 MARCKS KB1 nsv830779 6 114313227 114352792 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445600 S 95 0 1 FLJ34503 esv988450 6 114325979 114332053 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565664 S 3 0 1 "" HuRef nsv511912 6 114330325 114331839 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624448 S 1 0 1 "" 1 nsv823825 6 114330506 114331705 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438886,nssv1429870,nssv1423457,nssv1434469,nssv1429121,nssv1433705,nssv1425817,nssv1435140 M 31 1 7 "" AK12,AK14,AK4,NA18526,NA18570,NA18942,NA18973,NA18999 dgv161e180 6 114330506 114331709 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991079,esv1000935 M 3 0 1 "" HuRef nsv820921 6 114330506 114331939 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420603 S 1 0 1 "" NA10851 nsv823826 6 114330506 114331939 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427126,nssv1432915,nssv1440400,nssv1436682,nssv1421759,nssv1440474,nssv1435914,nssv1430635,nssv1426718,nssv1437480,nssv1441116,nssv1438205,nssv1431368,nssv1428343,nssv1433319 M 31 0 15 "" AK10,AK16,AK18,NA18542,NA18547,NA18564,NA18566,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997 esv9147 6 114330632 114331736 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31588 S 1 0 1 "" SJK esv22338 6 114330722 114331939 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18218 S 451 11 5 "" NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12776,NA18502,NA18505,NA18517,NA18909,NA18916,NA19190,NA19240 nsv520419 6 114391946 114413307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671331,nssv676787 M 2026 0 2 HDAC2 nsv819824 6 114484106 114484826 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419072 S 2 0 1 HS3ST5 AK1 esv34434 6 114571998 115569492 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978401,essv6978400,essv6978399,essv6978398,essv6986607 M 771 1 0 "" NA19092 nsv464024 6 114596014 114943874 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540026 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00872 esv271935 6 114655073 114655403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576033,essv2541073,essv2546535,essv2525934,essv2570894,essv2523310,essv2570612,essv2576512,essv2550832,essv2529399,essv2558647,essv2564454,essv2577663,essv2555129,essv2537599,essv2546633,essv2562657,essv2569612,essv2537179,essv2539212,essv2561545,essv2544762,essv2538355,essv2540603,essv2524641,essv2567936,essv2528852,essv2541566,essv2559365,essv2566893,essv2542202,essv2567265,essv2529923,essv2573926,essv2557737,essv2555842,essv2573531,essv2543120,essv2572058,essv2529475,essv2575020,essv2526486,essv2574757,essv2549742,essv2551525,essv2537940,essv2532957,essv2525111 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07357,NA11830,NA11831,NA11881,NA11918,NA11993,NA12004,NA12044,NA12154,NA12155,NA12749,NA12750,NA12751,NA12761,NA12872,NA12878,NA12892,NA18507,NA18508,NA18517,NA18519,NA18523,NA18526,NA18547,NA18552,NA18555,NA18577,NA18579,NA18592,NA18638,NA18853,NA18856,NA18947,NA18949,NA18951,NA18953,NA18956,NA18964,NA18965,NA18973,NA19093,NA19102,NA19114,NA19138,NA19225,NA19257 esv272258 6 114655074 114655404 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582061,essv2582288,essv2582781 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv33752 6 114664453 114709175 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99556 S 51 1 0 "" 22335 dgv2002e1 6 114671437 115749378 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8749,essv10980,esv837 M 271 0 0 "" NA19092 nsv886547 6 114673577 116399182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541579 S 6533 0 1 FRK MS15382 nsv528128 6 114704350 115577822 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704673 S 2026 1 0 "" nsv818451 6 114704350 115577822 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418282 S 112 1 0 "" NA19092 esv1963217 6 114753749 114754208 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837113 S 1 0 1 "" NA18507 esv2474357 6 114753867 114754032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355831 S 1 0 1 "" NA18507 nsv348849 6 114769014 114769079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367427 M 24 "" esv25509 6 114769790 114771833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12960 S 451 0 1 "" NA07045 dgv393n21 6 114782752 114784523 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519688,nsv526353 M 2026 0 2 "" nsv7955 6 114803526 114805631 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14212 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18942 nsv823827 6 114888042 114920609 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441117 S 31 0 1 "" NA18969 esv24665 6 114972466 114977357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15545 S 451 0 1 "" NA11995 nsv7384 6 115053644 115790151 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6084 S 9 0 0 "" NA12156 nsv830780 6 115059372 115259434 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445601 S 95 1 0 "" nsv5447 6 115077889 115122898 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8285 S 9 0 1 "" NA12156 nsv436759 6 115151239 115153065 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466315 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv273598 6 115156252 115156394 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580616,essv2579556 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv7956 6 115165425 115172472 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17324,nssv14635 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA18980 nsv512890 6 115216366 115216617 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625535 S 1 1 0 "" 1 esv1383732 6 115216577 115216577 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779983 S 2 1 0 "" HuRef nsv886548 6 115244123 115532391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525997 S 6533 1 0 "" SP56914 nsv886549 6 115261769 115457891 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556429 S 6533 0 1 "" MS22008 esv9246 6 115275379 115276213 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31687 S 1 0 1 "" SJK nsv823828 6 115275481 115276147 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427138,nssv1429122 M 31 0 2 "" AK12,NA18947 nsv516738 6 115292115 115314099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677989,nssv689616,nssv670544 M 2026 0 3 "" dgv6972n71 6 115337112 115470639 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886550,nsv886551,nsv886557,nsv886555 M 6533 0 5 "" IS30066,MS10699,MS10735,MS11467,MS14495 dgv6973n71 6 115337112 115569232 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886552,nsv886553 M 6533 0 2 "" IS31617,MS12071 dgv6974n71 6 115341819 115432486 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886554,nsv886556 M 6533 0 2 "" IS38441,MS11733 nsv522607 6 115347078 115505852 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705999 S 2026 1 0 "" esv1186871 6 115349751 115349751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017372 S 2 1 0 "" HuRef dgv6975n71 6 115385618 115495665 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886559,nsv886560,nsv886558 M 6533 0 3 "" IS34395,IS38063,MS16697 esv33632 6 115388610 115432398 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99531 S 51 0 1 "" 22335 nsv886561 6 115390578 115707362 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577886 S 6533 0 1 "" IS34599 nsv830781 6 115420287 115611790 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445602 S 95 1 0 "" nsv7957 6 115421781 115424862 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16737,nssv16663,nssv17550 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18504,NA19132,NA19221 nsv7959 6 115431837 115433813 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17354 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv7960 6 115435436 115452417 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17384,nssv15178,nssv16797,nssv16693,nssv15149 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA19132,NA19144,NA19173 nsv436500 6 115457572 115465364 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466316 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2629097 6 115459400 115465911 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277078 S 1 0 1 "" NA18507 esv2519292 6 115485156 115486768 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221717 S 1 0 1 "" NA18507 esv2052202 6 115485673 115486119 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4595587 S 1 0 1 "" NA18507 nsv7961 6 115492678 115494943 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14685,nssv13579,nssv15819,nssv14677,nssv14944,nssv15018,nssv14242 M 31 7 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12740,NA18537,NA18564,NA18572,NA18942 nsv527544 6 115505852 115767631 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704005 S 2026 1 0 "" nsv521576 6 115535325 115707362 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698192 S 2026 1 0 "" esv2597175 6 115612164 115613737 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345176 S 1 0 1 "" NA18507 nsv7962 6 115637304 115688314 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16302 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv2533928 6 115730750 115732305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315552 S 1 0 1 "" NA18507 esv2382363 6 115731041 115731748 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878318 S 1 0 1 "" NA18507 esv6015 6 115731243 115731558 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28456 S 1 0 1 "" SJK esv1709789 6 115731245 115731562 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301378 S 2 0 1 "" HuRef esv29011 6 115810667 115825057 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11780 S 451 0 3 "" NA18916,NA19147,NA19257 esv2421927 6 115813397 115824035 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046013,essv5052137,essv5023752,essv5020038,essv5066787,essv5011759,essv5132513,essv5127599,essv5116154,essv5159517,essv5121819,essv5071730,essv5070891,essv5127978,essv5098809,essv5124734,essv5046779,essv5068687,essv5152371,essv5011102,essv5088642,essv5153068,essv5028851,essv5085208,essv5045386,essv5104628,essv5048983,essv5052899,essv5046708,essv5087809,essv5135307,essv5042396,essv5013561,essv5113003,essv5087806,essv5030584,essv5047663,essv5085289,essv5068606,essv5114910,essv5015818,essv5085266,essv5102839,essv5063163 M 1184 0 44 "" NA18510,NA18916,NA19044,NA19102,NA19116,NA19120,NA19138,NA19147,NA19152,NA19175,NA19197,NA19199,NA19200,NA19202,NA19204,NA19207,NA19208,NA19221,NA19223,NA19256,NA19257,NA19258,NA19371,NA19383,NA19391,NA19429,NA19703,NA19713,NA19818,NA19828,NA19835,NA19902,NA19916,NA19918,NA20279,NA20282,NA20284,NA20301,NA20302,NA20346,NA20349,NA21370,NA21494,NA21522 dgv2003e1 6 115895071 116068349 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv473,essv5447 M 271 0 0 "" NA18632 esv270556 6 115895307 115895598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556803,essv2547131,essv2564710,essv2576343,essv2537559,essv2528570,essv2540208,essv2520764,essv2569321,essv2561580,essv2556400,essv2527839,essv2562406,essv2524136 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA12717,NA12751,NA12814,NA12878,NA12891,NA18489,NA18498,NA18508,NA18523,NA18871,NA18907,NA18909,NA19129 esv274555 6 115895308 115895531 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581873,essv2582927 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv525149 6 115954226 115965140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701219 S 2026 0 1 "" esv33785 6 115991124 115993276 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99321 S 51 1 0 "" 22275 esv33164 6 116008386 116009088 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98876,essv100103 M 51 0 2 "" 21606,22086 nsv7963 6 116061451 116062635 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14600 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv886562 6 116165552 116309476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537976 S 6533 0 1 "" MS13441 nsv510047 6 116235895 116241895 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621290,nssv622125 M 4 0 2 "" NA10860,NA15510 esv268089 6 116249739 116249852 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509298,essv2499202,essv2497659,essv2496952 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18909,NA19114,NA19147,NA19190 esv26227 6 116277169 116279615 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16585 S 451 0 1 "" NA07037 esv28188 6 116288014 116324723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13853 S 451 0 1 "" NA07037 nsv523972 6 116385880 117237397 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699825 S 2026 1 0 BET3L,COL10A1,DSE,FAM162B,FAM26D,FAM26E,FAM26F,FRK,GPRC6A,KPNA5,NT5DC1,RSPH4A,RWDD1,TPI1P3,TSPYL1,TSPYL4,ZUFSP esv1229647 6 116386490 116386578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856738 S 2 0 1 FRK HuRef esv272013 6 116413756 116414057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571750,essv2546590,essv2525902,essv2542366,essv2543856,essv2568275,essv2545448,essv2577373,essv2548244,essv2550564,essv2547552,essv2553862,essv2559546,essv2564192,essv2555124,essv2561908,essv2537357,essv2528293,essv2546752,essv2540106,essv2520994,essv2556862,essv2552576,essv2562725,essv2569538,essv2538910,essv2561350,essv2544886,essv2563037,essv2523754,essv2541092,essv2538345,essv2542609,essv2540241,essv2564811,essv2534938,essv2549277,essv2519507,essv2559912,essv2521948,essv2566037,essv2567709,essv2528930,essv2567415,essv2541825,essv2570337,essv2553460,essv2535800,essv2559021,essv2527734,essv2539468,essv2578421,essv2533444,essv2567033,essv2573834,essv2527552,essv2556096,essv2534210,essv2522512,essv2531652,essv2573566,essv2543081,essv2525783,essv2526848,essv2529657,essv2575435,essv2538692,essv2526329,essv2524234,essv2530196,essv2572627,essv2571164,essv2574342,essv2535964,essv2537797,essv2548646,essv2533062,essv2554426,essv2547785,essv2525004 M 157 80 0 Samples from several populations that are part of the HapMap project. FRK NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA11840,NA11881,NA11918,NA11919,NA11992,NA11995,NA12003,NA12043,NA12045,NA12155,NA12717,NA12763,NA12776,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18507,NA18508,NA18519,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18907,NA18912,NA18940,NA18944,NA18947,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19005,NA19093,NA19099,NA19108,NA19114,NA19129,NA19141,NA19143,NA19238,NA19240 esv273944 6 116413756 116414057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581821,essv2582518 M 7 2 0 Samples from several populations that are part of the HapMap project. FRK NA12878,NA12891 esv2528433 6 116475078 116475886 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200086 S 1 1 0 FRK NA18507 esv1334759 6 116475460 116475460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107331 S 2 1 0 FRK HuRef nsv524705 6 116811390 116815515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700688 S 2026 0 1 DSE esv2504683 6 116857089 116858637 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339763 S 1 0 1 DSE NA18507 esv1982590 6 116857333 116858035 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684991 S 1 0 1 DSE NA18507 nsv348791 6 116857507 116857825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367369 M 24 DSE esv5754 6 116857523 116857819 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28195 S 1 0 1 DSE SJK nsv830783 6 116873562 117072925 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445603 S 95 1 0 BET3L,FAM26D,FAM26E,FAM26F,RSPH4A,RWDD1,ZUFSP esv272310 6 116950804 116951052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578977 S 7 1 0 Samples from several populations that are part of the HapMap project. BET3L NA19239 esv270029 6 116950816 116951056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546533,essv2545672,essv2525490,essv2535147,essv2558603,essv2561965,essv2528651,essv2539052,essv2561324,essv2562978,essv2553032,essv2542882,essv2540661,essv2539711,essv2519680,essv2560139,essv2528962,essv2553364,essv2572324,essv2566898,essv2555672,essv2534380,essv2522606,essv2543273,essv2576934,essv2572070,essv2538643,essv2560465,essv2571558,essv2536193,essv2563422 M 157 31 0 Samples from several populations that are part of the HapMap project. BET3L NA06986,NA10847,NA11881,NA12003,NA12156,NA12249,NA12750,NA12874,NA12891,NA18519,NA18523,NA18532,NA18542,NA18550,NA18552,NA18563,NA18566,NA18570,NA18579,NA18605,NA18609,NA18853,NA18945,NA18959,NA18960,NA18965,NA18970,NA18973,NA19108,NA19190,NA19238 esv268808 6 117005347 117005682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546461,essv2521414,essv2523046,essv2545658,essv2525297,essv2535429,essv2520305,essv2558421,essv2553609,essv2520258,essv2562093,essv2537533,essv2528358,essv2530496,essv2551780,essv2561614,essv2523726,essv2552926,essv2542896,essv2540324,essv2560958,essv2539849,essv2549551,essv2559819,essv2521963,essv2531152,essv2528760,essv2541807,essv2566861,essv2555767,essv2530108,essv2555970,essv2534486,essv2522492,essv2531517,essv2572080,essv2525736,essv2526778,essv2538494,essv2560322,essv2549779,essv2571311,essv2574478,essv2563474 M 157 44 0 Samples from several populations that are part of the HapMap project. RWDD1 NA10847,NA11881,NA11894,NA11931,NA12003,NA12156,NA12249,NA12716,NA12750,NA12763,NA12815,NA12874,NA12878,NA12891,NA18486,NA18504,NA18523,NA18537,NA18542,NA18550,NA18552,NA18562,NA18563,NA18564,NA18570,NA18571,NA18573,NA18579,NA18592,NA18853,NA18945,NA18949,NA18956,NA18959,NA18960,NA18961,NA18973,NA18980,NA19005,NA19108,NA19190,NA19225,NA19238,NA19240 esv272181 6 117005347 117005682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582055,essv2582394,essv2582820,essv2584303,essv2583343 M 7 5 0 Samples from several populations that are part of the HapMap project. RWDD1 NA12878,NA12891,NA12892,NA19238,NA19240 nsv5448 6 117058908 117093378 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2731 S 9 1 0 RSPH4A,ZUFSP NA18555 esv2570527 6 117199682 117205400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201071 S 1 0 1 "" NA18507 nsv830784 6 117273644 117412065 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445604 S 95 1 0 RFX6 nsv509150 6 117499592 117514907 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620860 S 4 1 0 "" NA15510 dgv2004e1 6 117537917 117733968 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv647,essv14095,essv9540,essv11297,essv9801 M 271 0 0 ROS1,VGLL2 NA18861,NA18863 nsv830785 6 117555636 117733968 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445605,nssv1445607 M 95 2 0 ROS1,VGLL2 nsv823829 6 117565013 117565938 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427150 S 31 0 1 "" NA18947 nsv886563 6 117602819 117659576 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520747 S 6533 1 0 "" SP51237 dgv6976n71 6 117602819 117686278 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886564,nsv886567,nsv886565,nsv886566 M 6533 9 0 "" MS25223,SP52607,SP54063,SP54405,SP54774,SP54836,SP56072,SP56260,SP57965 esv23491 6 117615815 117672265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21051 S 451 0 1 "" NA18861 nsv519937 6 117624563 117635344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697136 S 2026 0 1 "" nsv510048 6 117732577 117738577 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618244 S 4 0 1 ROS1 CHM esv2635247 6 117748931 117750380 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317932 S 1 0 1 ROS1 NA18507 nsv526934 6 117824996 117826221 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703302 S 2026 0 1 ROS1 esv267426 6 117837328 117837732 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512627,essv2505182 M 157 2 0 Samples from several populations that are part of the HapMap project. ROS1 NA18489,NA18853 esv270506 6 117853719 117854045 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517520 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 esv270899 6 117862547 117862844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511401,essv2513146,essv2495918,essv2505013,essv2500065,essv2508648,essv2503749,essv2495794,essv2499512 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11920,NA12249,NA12489,NA12828,NA18558,NA18592,NA18960 nsv521325 6 117878836 117882878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697931 S 2026 0 1 "" esv2367514 6 117887065 117887533 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641172 S 1 0 1 "" NA18507 esv259524 6 117905228 117905529 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394171,essv2393967,essv2393860,essv2393671,essv2394040,essv2394273 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259778 6 117905228 117905539 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398638,essv2400242,essv2398483,essv2395800,essv2397276,essv2401070,essv2396907,essv2395605,essv2397816,essv2396522,essv2399340,essv2396126,essv2395724,essv2400935,essv2399470,essv2394626,essv2395367,essv2397520,essv2398366,essv2396351,essv2395911,essv2397066,essv2400540 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11894,NA12004,NA12878,NA12891,NA12892,NA18501,NA18505,NA18517,NA18522,NA18523,NA18532,NA18547,NA18858,NA18870,NA18916,NA18947,NA19093,NA19138,NA19238,NA19239,NA19240 esv1173819 6 117905434 117905434 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754211 S 2 1 0 "" HuRef nsv507356 6 117910295 117916295 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622986,nssv621857,nssv617718 M 4 3 0 DCBLD1 CHM,NA10860,NA18994 nsv507357 6 118011632 118017632 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617719,nssv622987,nssv620354,nssv621858 M 4 4 0 GOPC CHM,NA10860,NA15510,NA18994 nsv521659 6 118057420 118062652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698276 S 2026 0 1 "" nsv5449 6 118061339 118106444 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8286 S 9 0 1 NUS1 NA12156 nsv830786 6 118133648 118308353 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445608 S 95 1 0 NUS1 nsv5450 6 118175988 118195973 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2612 S 9 0 1 "" NA18555 nsv499635 6 118184059 118191310 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585999 S 9 0 1 "" nsv5451 6 118261362 118293636 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6085 S 9 1 0 "" NA12156 nsv507358 6 118316021 118322021 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621859 S 4 1 0 "" NA10860 nsv522455 6 118335220 118347378 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705818 S 2026 0 1 SLC35F1 esv1466694 6 118351462 118351462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983323 S 2 1 0 SLC35F1 HuRef esv1751015 6 118351526 118351526 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219344 S 2 1 0 SLC35F1 HuRef esv1067063 6 118352003 118352003 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321876 S 2 1 0 SLC35F1 HuRef nsv512891 6 118352750 118352882 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625536 S 1 1 0 SLC35F1 1 nsv5452 6 118378327 118411515 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8287 S 9 1 0 SLC35F1 NA12156 nsv428153 6 118537210 118693667 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450848 S 62 0 1 SLC35F1 HGDP00471 esv1010089 6 118558622 118561707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565044 S 3 0 1 SLC35F1 HuRef esv269370 6 118732824 118733126 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576119,essv2546258,essv2526115,essv2542243,essv2536471,essv2543938,essv2570800,essv2556673,essv2568170,essv2523145,essv2570381,essv2548419,essv2521849,essv2550747,essv2525308,essv2535085,essv2553923,essv2552092,essv2520314,essv2547356,essv2529364,essv2558621,essv2564559,essv2577948,essv2553654,essv2565412,essv2520182,essv2564247,essv2555154,essv2561849,essv2537540,essv2528529,essv2547083,essv2530467,essv2520963,essv2557494,essv2557218,essv2552398,essv2551749,essv2532247,essv2562791,essv2569210,essv2578641,essv2549992,essv2558847,essv2537050,essv2539026,essv2569787,essv2527345,essv2561323,essv2544687,essv2523905,essv2552974,essv2524573,essv2565032,essv2534657,essv2519895,essv2522114,essv2541559,essv2563914,essv2553156,essv2572382,essv2559117,essv2566807,essv2550950,essv2543750,essv2556379,essv2528017,essv2562212,essv2539367,essv2533930,essv2555502,essv2530045,essv2574042,essv2527699,essv2531635,essv2573424,essv2571948,essv2526735,essv2529607,essv2575381,essv2575339,essv2538474,essv2526444,essv2560667,essv2523957,essv2560919,essv2574715,essv2568434,essv2545028,essv2560493,essv2549822,essv2571443,essv2546081,essv2574367,essv2551476,essv2535977,essv2537924,essv2548999,essv2548026,essv2524919,essv2563482 M 157 102 0 Samples from several populations that are part of the HapMap project. SLC35F1 NA06986,NA07000,NA07037,NA07347,NA07357,NA10847,NA11830,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12004,NA12044,NA12045,NA12144,NA12155,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12812,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18486,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18555,NA18558,NA18561,NA18566,NA18571,NA18592,NA18603,NA18605,NA18609,NA18638,NA18853,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18945,NA18949,NA18951,NA18952,NA18961,NA18964,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv274087 6 118732827 118733127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582134,essv2582332,essv2584368,essv2583642 M 7 4 0 Samples from several populations that are part of the HapMap project. SLC35F1 NA12878,NA12891,NA19238,NA19240 nsv830787 6 118738595 118911799 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445609,nssv1445610 M 95 0 2 C6orf204,SLC35F1 nsv525179 6 118832936 118982785 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701256 S 2026 1 0 BRD7P3,C6orf204,PLN nsv464029 6 118874843 118967956 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540028 S 1557 1 0 BRD7P3,C6orf204 1780862529_A nsv525925 6 118920013 118925905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702129 S 2026 0 1 C6orf204 esv2581079 6 118940900 118942492 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176372 S 1 0 1 C6orf204 NA18507 esv274179 6 118983685 118983770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581584 S 7 1 0 Samples from several populations that are part of the HapMap project. C6orf204,PLN NA12878 esv275552 6 118985451 118993908 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585799 S 1250 0 1 C6orf204,PLN esv4141 6 119118483 119118945 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26582 S 1 1 0 Single Asian sample YH C6orf204 YH esv2440070 6 119118670 119121627 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356286 S 1 0 1 C6orf204 NA18507 esv2333041 6 119118843 119120788 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959254 S 1 0 1 C6orf204 NA18507 esv3867 6 119118945 119120720 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26308 S 1 0 1 Single Asian sample YH C6orf204 YH esv27506 6 119119797 119120709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21360 S 451 0 1 C6orf204 NA18907 nsv830788 6 119120714 119250355 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445611 S 95 1 0 C6orf204,LOC100287632,MCM9 esv24864 6 119146171 119147186 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16578 S 451 0 2 "" NA18508,NA18523 nsv464030 6 119150591 119187072 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540029 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00929 nsv470855 6 119150591 119187072 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544724 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00929 dgv6977n71 6 119151146 119238867 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886569,nsv886568 M 6533 4 0 LOC100287632 IS32361,IS33115,IS38081,MS14601 esv2505932 6 119197482 119197809 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392178 S 1 0 1 "" NA18507 nsv5453 6 119220511 119253593 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4939 S 9 1 0 MCM9 NA19129 nsv509151 6 119251685 119264745 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620861 S 4 1 0 ASF1A,MCM9 NA15510 nsv510910 6 119251685 119264745 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624311,nssv622377,nssv618654 M 4 0 0 ASF1A,MCM9 CHM,NA10860,NA18994 esv29127 6 119292706 119313786 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16596 S 451 2 0 MCM9 NA11995,NA18511 nsv437523 6 119293670 119301979 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467404 S 60 0 1 Samples from several populations that are part of the HapMap project. MCM9 NA19094 esv259788 6 119303595 119304128 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395838,essv2396716,essv2396778,essv2400743,essv2395420,essv2396706,essv2398405,essv2400364,essv2397437,essv2395056,essv2397199,essv2395534,essv2400140,essv2399920,essv2395357,essv2399996,essv2395808,essv2398354 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA11831,NA12249,NA12717,NA12749,NA12750,NA18552,NA18555,NA18566,NA18571,NA18572,NA18593,NA18608,NA18856,NA18916,NA18940,NA18961,NA19093 esv1571689 6 119352423 119352423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051781 S 2 1 0 FAM184A HuRef nsv528632 6 119422584 119439559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705262 S 2026 0 1 FAM184A,MIR548B esv270541 6 119435723 119436061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496507,essv2494903,essv2513512,essv2509510,essv2493498,essv2512129,essv2497996 M 157 7 0 Samples from several populations that are part of the HapMap project. FAM184A NA18510,NA18520,NA18907,NA19129,NA19137,NA19238,NA19240 esv273077 6 119435731 119436055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581876,essv2582541,essv2582817,essv2584367,essv2584863,essv2583516 M 7 6 0 Samples from several populations that are part of the HapMap project. FAM184A NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv2763 6 119459154 119459643 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25204 S 1 0 1 Single Asian sample YH FAM184A YH nsv349001 6 119459203 119459530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367579 M 24 FAM184A esv7449 6 119459205 119459528 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29890 S 1 0 1 FAM184A SJK esv1008585 6 119459217 119459544 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566179 S 3 0 1 FAM184A HuRef esv1686491 6 119459218 119459546 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175581 S 2 0 1 FAM184A HuRef esv272161 6 119471839 119472161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580464,essv2580586 M 7 2 0 Samples from several populations that are part of the HapMap project. FAM184A NA12891,NA19238 esv269182 6 119471882 119472057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556937,essv2532392,essv2550037,essv2537113,essv2556387,essv2575655,essv2575034,essv2530285,essv2560238,essv2548081,essv2571176,essv2546106 M 157 12 0 Samples from several populations that are part of the HapMap project. FAM184A NA18501,NA18505,NA18511,NA18517,NA18871,NA19099,NA19102,NA19141,NA19190,NA19210,NA19238,NA19239 esv2524990 6 119485209 119486695 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169199 S 1 0 1 FAM184A NA18507 esv1958583 6 119485543 119486138 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777644 S 1 0 1 FAM184A NA18507 nsv886570 6 119492587 119642255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576395 S 6533 1 0 FAM184A,MAN1A1 IS34055 nsv886571 6 119535898 119558938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593476 S 6533 1 0 MAN1A1 IS39417 nsv522725 6 119591167 119606742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698356 S 2026 0 1 MAN1A1 esv2507819 6 119637669 119639205 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226850 S 1 0 1 MAN1A1 NA18507 esv2540099 6 119638146 119638476 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344221 S 1 0 1 MAN1A1 NA18507 nsv5455 6 119836675 119881335 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8289 S 9 0 1 "" NA12156 esv271207 6 119901874 119902189 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512508,essv2496341,essv2509010,essv2500918,essv2507052,essv2504660,essv2499196,essv2499784 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18510,NA18522,NA18856,NA18870,NA19099,NA19114,NA19225 nsv818452 6 119937015 119957031 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417872 S 112 1 0 "" NA18852 esv270113 6 119944994 119945323 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496710,essv2507030 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA19102 esv2580836 6 120160964 120161034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238141 S 1 0 1 "" NA18507 nsv886572 6 120207174 120326179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531146 S 6533 0 1 "" MS10351 dgv6978n71 6 120326179 120451191 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886573,nsv886574 M 6533 0 2 "" IS31205,MS18847 nsv464032 6 120408884 120454842 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540030 S 1557 0 1 "" NINDS_125 nsv525211 6 120417427 120431183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701293 S 2026 0 1 "" nsv5456 6 120417677 120444729 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11134 S 9 1 0 "" NA15510 esv272912 6 120421930 120422264 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584157,essv2583555 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268786 6 120421931 120422263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546269,essv2535111,essv2554187,essv2576465,essv2520159,essv2555074,essv2530535,essv2537493,essv2528536,essv2546810 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12249,NA12287,NA12814,NA12815,NA12872,NA12873,NA12878,NA12891,NA12892 nsv527695 6 120431183 120435855 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704173 S 2026 0 1 "" nsv520330 6 120473826 120526299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697352 S 2026 0 1 "" esv2451624 6 120486505 120488049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263570 S 1 0 1 "" NA18507 esv268659 6 120529571 120529870 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511722,essv2504189,essv2496459,essv2500898,essv2507049,essv2501485,essv2502011 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18505,NA18510,NA18856,NA18870,NA19093,NA19257 dgv6979n71 6 120550890 120693253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886576,nsv886575 M 6533 0 2 "" IS31285,IS32615 esv2535480 6 120609539 120610548 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254677 S 1 1 0 "" NA18507 esv268789 6 120609928 120610259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558122,essv2565718,essv2540887,essv2571699,essv2546497,essv2521174,essv2526236,essv2542245,essv2536560,essv2522886,essv2543952,essv2570759,essv2556701,essv2568080,essv2545409,essv2523444,essv2531796,essv2577390,essv2570404,essv2548573,essv2521873,essv2576681,essv2525253,essv2550405,essv2535037,essv2554295,essv2551967,essv2520559,essv2547359,essv2529146,essv2558669,essv2564744,essv2578057,essv2553580,essv2559418,essv2565250,essv2576310,essv2520124,essv2564106,essv2530701,essv2561832,essv2537527,essv2528559,essv2546877,essv2557215,essv2552369,essv2551679,essv2532422,essv2562765,essv2569295,essv2578724,essv2550246,essv2558874,essv2537077,essv2539037,essv2569848,essv2527168,essv2561510,essv2544626,essv2563093,essv2523638,essv2553039,essv2541286,essv2538366,essv2542618,essv2540362,essv2524741,essv2565198,essv2534666,essv2561032,essv2539545,essv2549391,essv2519541,essv2560123,essv2522123,essv2566126,essv2531247,essv2532635,essv2567764,essv2528725,essv2567311,essv2541568,essv2570228,essv2563695,essv2553458,essv2535810,essv2572230,essv2559132,essv2566951,essv2541901,essv2551064,essv2569128,essv2543527,essv2556176,essv2528054,essv2562490,essv2539252,essv2534133,essv2578493,essv2573190,essv2533782,essv2555697,essv2567272,essv2566616,essv2530091,essv2527468,essv2557701,essv2556099,essv2534314,essv2531577,essv2573714,essv2543367,essv2571884,essv2525667,essv2529578,essv2575556,essv2575259,essv2538815,essv2526399,essv2524174,essv2560850,essv2574932,essv2530280,essv2572830,essv2568545,essv2545151,essv2560382,essv2548052,essv2549609,essv2571454,essv2545780,essv2574234,essv2551477,essv2536069,essv2538055,essv2548926,essv2532985,essv2554353,essv2547629,essv2525176,essv2563141 M 157 141 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv274030 6 120609928 120610259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581938,essv2582276,essv2582977 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1440846 6 120609961 120609961 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722151 S 2 1 0 "" HuRef dgv6980n71 6 120612495 120847633 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886577,nsv886580,nsv886578 M 6533 0 3 "" IS33196,IS33533,IS36533 nsv886579 6 120618851 120711685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591990 S 6533 0 1 "" IS39119 nsv886581 6 120623424 120671711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509142 S 6533 0 1 "" SP54753 nsv886582 6 120632260 120778556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588474 S 6533 0 1 "" IS38207 nsv7964 6 120669295 120672107 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15179,nssv14696,nssv17580,nssv14707,nssv16821,nssv15208,nssv14974,nssv15788,nssv17444,nssv14522,nssv15003,nssv14272,nssv13930,nssv14665,nssv14630,nssv14715,nssv15751,nssv13609,nssv14465,nssv16723,nssv15849,nssv16827,nssv15366 M 31 23 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA18504,NA18517,NA18537,NA18572,NA18853,NA18860,NA18942,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv26959 6 120670681 120684202 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10335 S 451 1 0 "" NA18907 nsv823830 6 120671176 120671777 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432916 S 31 1 0 "" NA18972 nsv821651 6 120676709 120872662 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421194 S 31 0 1 "" esv272739 6 120687065 120687150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581103 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv6981n71 6 120711848 120832046 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886585,nsv886584,nsv886583 M 6533 0 3 "" IS32150,IS37226,MS10758 esv2611968 6 120769680 120770820 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317265 S 1 1 0 "" NA18507 esv269975 6 120770357 120770703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500869,essv2506821,essv2511404,essv2499378,essv2508003,essv2508053,essv2505498,essv2512269,essv2502875,essv2507746,essv2493303,essv2502972,essv2509781,essv2496546,essv2493757,essv2506062,essv2508201,essv2507281,essv2493985,essv2509244,essv2503557,essv2504859,essv2506435,essv2509609,essv2498865,essv2501842,essv2498087,essv2503616,essv2495746,essv2503897,essv2504360,essv2499529,essv2513111 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07347,NA07357,NA10847,NA11830,NA11918,NA11920,NA11994,NA12003,NA12045,NA12154,NA12155,NA12156,NA12751,NA18504,NA18507,NA18508,NA18510,NA18517,NA18523,NA18579,NA18870,NA18871,NA18909,NA18947,NA19099,NA19108,NA19129,NA19138,NA19239,NA19240 esv273912 6 120770366 120770607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582111,essv2582423,essv2583193,essv2584053,essv2584398,essv2583414 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1009974 6 120779160 120782289 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563597 S 3 1 0 "" HuRef esv33237 6 120790463 120793922 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100971,essv95534,essv93078,essv95341,essv99097,essv92918,essv92772,essv93712,essv96732,essv97232,essv93475,essv99695,essv92622,essv99220,essv100313,essv98370 M 51 0 16 "" 21693,21847,21863,21872,21938,21939,21944,21972,22011,22075,22128,22217,22233,22275,22300,22352 esv259504 6 120806418 120806719 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394251,essv2393839,essv2393637,essv2394281 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv259919 6 120806423 120806733 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399018,essv2398502,essv2401125,essv2400922,essv2395792,essv2396253,essv2399360,essv2399166,essv2397346,essv2396953,essv2397828,essv2399333,essv2400701,essv2400960,essv2396322,essv2395067,essv2398861,essv2400442,essv2398970,essv2399411,essv2400074,essv2395342,essv2394449,essv2398191,essv2397128,essv2397009,essv2398306,essv2395175,essv2394825,essv2396009,essv2400481,essv2394489 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA11931,NA11993,NA12004,NA12006,NA12287,NA12776,NA12878,NA12892,NA18505,NA18522,NA18542,NA18547,NA18558,NA18571,NA18582,NA18592,NA18603,NA18858,NA18861,NA18916,NA18943,NA18949,NA18951,NA18973,NA19093,NA19108,NA19114,NA19238,NA19240,NA19257 esv8261 6 120806454 120806551 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30702 S 1 1 0 "" SJK esv988410 6 120806514 120806514 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581334 S 3 1 0 "" HuRef nsv348862 6 120806516 120806516 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367440 M 24 "" esv1292770 6 120806537 120806537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196480 S 2 1 0 "" HuRef esv2452140 6 120810548 120812076 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316399 S 1 0 1 "" NA18507 nsv5457 6 120815314 120821105 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2732 S 9 1 0 "" NA18555 esv2510896 6 120849996 120851646 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324237 S 1 0 1 "" NA18507 esv259419 6 120866840 120867224 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394201,essv2393960,essv2393857 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv259705 6 120866841 120867232 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396760,essv2400233,essv2398779,essv2398605,essv2399091,essv2395844,essv2400312,essv2395293,essv2396551,essv2399099,essv2401143,essv2397536,essv2400902,essv2396011,essv2395805,essv2396234,essv2400584,essv2394469,essv2398063,essv2396805,essv2400734,essv2397288,essv2401042,essv2396966,essv2400628,essv2395022,essv2396618,essv2395112,essv2396320,essv2399890,essv2400861,essv2397197,essv2397886,essv2400398,essv2398984,essv2400091,essv2397949,essv2400664,essv2399987,essv2394586,essv2397374 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07347,NA10847,NA10851,NA11830,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12249,NA12717,NA12878,NA12891,NA12892,NA18510,NA18519,NA18526,NA18550,NA18558,NA18561,NA18564,NA18572,NA18577,NA18592,NA18605,NA18861,NA18907,NA18912,NA18940,NA18965,NA18980 esv1449874 6 120867121 120867121 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666938 S 2 1 0 "" HuRef esv273648 6 120935981 120936391 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580511,essv2579030 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv269791 6 120936130 120936367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500867,essv2499340,essv2502895,essv2510347,essv2507783,essv2496817,essv2510719,essv2493215,essv2504066,essv2501184,essv2506174,essv2500418,essv2508245,essv2504563,essv2508102,essv2508623,essv2507524,essv2498419,essv2507199,essv2509262,essv2504980,essv2511068,essv2509381,essv2511938,essv2503605,essv2495775,essv2499521,essv2513112 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA10847,NA11830,NA11994,NA12156,NA12414,NA12751,NA18498,NA18501,NA18504,NA18505,NA18516,NA18523,NA18537,NA18561,NA18563,NA18579,NA18592,NA18638,NA18858,NA18870,NA18909,NA18942,NA18944,NA18953,NA19238 nsv350083 6 120936159 120936159 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368661 M 24 "" esv27542 6 120970341 120971288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17674 S 451 0 2 "" NA18861,NA18916 nsv7965 6 120999219 121007972 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16851 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 dgv2005e1 6 121008976 121071648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5665,esv1099 M 271 0 0 "" NA18605 dgv6982n71 6 121009760 121062520 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886588,nsv886586,nsv886589 M 6533 0 24 "" IS40105,MS15453,MS17114,MS22787,SP50597,SP50691,SP50870,SP50876,SP51192,SP51481,SP52224,SP52371,SP54007,SP54317,SP54607,SP54626,SP54832,SP55508,SP55652,SP56448,SP58467,SP81339,SP81389,SP81488 nsv886587 6 121020642 121048513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544489 S 6533 0 1 "" MS16357 nsv349403 6 121024077 121027992 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367981 M 24 "" nsv464036 6 121025447 121050378 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540031 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01347 nsv528002 6 121031939 121043332 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704527 S 2026 0 1 "" nsv7966 6 121032497 121044676 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15196 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 esv269765 6 121119313 121119398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519326,essv2516967,essv2514147,essv2514337,essv2513840 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12043,NA12874,NA19143 nsv886590 6 121195641 121262670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567672 S 6533 0 1 "" IS31137 esv2463077 6 121219948 121221384 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339808 S 1 0 1 "" NA18507 esv1966971 6 121220599 121221136 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4871052 S 1 0 1 "" NA18507 esv4342 6 121220738 121221011 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26783 S 1 0 1 Single Asian sample YH "" YH esv2437158 6 121220806 121220949 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216096 S 1 0 1 "" NA18507 esv271035 6 121245777 121246139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500470,essv2503320,essv2497336,essv2497166,essv2506314,essv2511677,essv2502348,essv2503746 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18542,NA18545,NA18552,NA18566,NA18940,NA18948,NA18960 dgv6983n71 6 121301788 121467086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886592,nsv886591 M 6533 0 2 C6orf170 IS33747,IS35018 esv5794 6 121305397 121305646 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28235 S 1 0 1 "" SJK esv4600 6 121360961 121361433 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27041 S 1 0 1 Single Asian sample YH "" YH esv1497701 6 121361005 121361329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732483 S 2 0 1 "" HuRef nsv886593 6 121404290 121456469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503053 S 6533 0 1 C6orf170 SP51481 esv6573 6 121454739 121454825 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29014 S 1 1 0 C6orf170 SJK esv268066 6 121496755 121497047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502601,essv2500433,essv2494521,essv2507556,essv2497855,essv2502360,essv2495151,essv2512824,essv2511497 M 157 9 0 Samples from several populations that are part of the HapMap project. C6orf170 NA07346,NA12750,NA18537,NA18550,NA18638,NA18945,NA18948,NA18964,NA18980 esv22380 6 121553945 121559541 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9987 S 451 1 0 C6orf170 NA07037 esv26352 6 121561180 121567799 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11992 S 451 0 2 C6orf170 NA18909,NA19190 nsv514384 6 121563152 121566280 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627837 S 1414 0 1 C6orf170 nsv442006 6 121563601 121565754 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C6orf170 nsv517605 6 121565435 121565930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679204,nssv679740,nssv691034,nssv663086,nssv680057,nssv675182,nssv672332,nssv692132,nssv669980,nssv693583,nssv668024,nssv684411,nssv666165,nssv692880,nssv690352,nssv652491,nssv675911,nssv656501,nssv672991,nssv683308,nssv654507,nssv689082,nssv678852,nssv679864,nssv681172,nssv662217,nssv691879,nssv682423,nssv677001,nssv688232 M 2026 0 30 C6orf170 nsv524172 6 121565435 121568597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700052 S 2026 0 1 C6orf170 nsv527946 6 121586575 121593719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704454 S 2026 0 1 C6orf170 nsv830789 6 121623149 121774019 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445612 S 95 0 1 C6orf170 nsv519021 6 121713643 121718864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696492 S 2026 0 1 "" nsv518937 6 121723629 121725453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696403 S 2026 0 1 "" esv1555864 6 121774893 121774893 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936793 S 2 1 0 "" HuRef nsv515656 6 121790241 121791852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664264,nssv662027,nssv659673,nssv656174,nssv667326,nssv655483 M 2026 0 6 "" nsv5458 6 121829220 121864753 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4607 S 9 0 1 "" NA19129 esv7118 6 121834984 121835063 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29559 S 1 1 0 "" SJK nsv499546 6 121837268 121842050 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586000 S 9 0 1 "" nsv511913 6 121838053 121840292 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624449 S 1 0 1 "" 1 esv26043 6 121838098 121841703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18549 S 451 0 2 "" NA18861,NA19129 nsv517347 6 121838651 121840667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671948,nssv689404,nssv653044,nssv680634,nssv656415,nssv656812,nssv688531,nssv655694,nssv689770,nssv678083,nssv657778,nssv672060,nssv678020,nssv683903,nssv671724,nssv688939,nssv669759,nssv681202,nssv655796,nssv675242,nssv684580,nssv651793,nssv671406,nssv687599,nssv685056 M 2026 0 25 "" esv993703 6 121839143 121839753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575598 S 3 0 1 "" HuRef nsv514385 6 121839184 121841648 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627838 S 1414 0 1 "" nsv886594 6 121879013 122084816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563316 S 6533 0 1 "" MS25963 nsv517735 6 121892269 121892602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680635,nssv689771,nssv653045,nssv683061 M 2026 0 4 "" dgv394n21 6 121899308 121917347 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528731,nsv526935 M 2026 0 2 "" nsv518938 6 121994106 122050383 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696404 S 2026 1 0 "" nsv508428 6 122014031 122095128 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622557 S 4 0 1 "" NA18994 esv21776 6 122122111 122123352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10200 S 451 0 4 "" NA18505,NA18858,NA19147,NA19240 esv2619526 6 122131681 122135354 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296473 S 1 0 1 "" NA18507 esv2466833 6 122132238 122134238 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168388 S 1 0 1 "" NA18507 esv2384446 6 122132326 122134864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762297 S 1 0 1 "" NA18507 esv267967 6 122199076 122200093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510797,essv2494231,essv2504041,essv2502976,essv2509685,essv2493827,essv2494882,essv2509131,essv2506018,essv2498321,essv2503360,essv2500041,essv2508312,essv2499898,essv2504506,essv2506371,essv2508451,essv2508596,essv2510007,essv2499261,essv2501614,essv2507488,essv2505758,essv2513457,essv2495506,essv2502439,essv2500576,essv2496014,essv2501486,essv2498873,essv2497619,essv2496893,essv2511997,essv2501750,essv2498033 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18505,NA18507,NA18508,NA18517,NA18520,NA18522,NA18523,NA18526,NA18542,NA18558,NA18561,NA18562,NA18563,NA18566,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18861,NA18907,NA18916,NA18948,NA18956,NA18961,NA19093,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240 nsv512892 6 122199077 122199179 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625537 S 1 1 0 "" 1 esv274177 6 122199080 122200077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580247,essv2579964 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv259577 6 122203262 122203575 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394096,essv2393965,essv2393823,essv2393988 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv260055 6 122203277 122203583 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400238,essv2399066,essv2400318,essv2398487,essv2401112,essv2400909,essv2398889,essv2397561,essv2399376,essv2399209,essv2399724,essv2397278,essv2401105,essv2396950,essv2395668,essv2395719,essv2400937,essv2400841,essv2399554,essv2398927,essv2399415,essv2400103,essv2394635,essv2395300,essv2394911,essv2394407,essv2397481,essv2398134,essv2397098,essv2397721,essv2394560,essv2396997,essv2398298,essv2399280,essv2394824,essv2399691,essv2397211,essv2397025 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11881,NA11894,NA11931,NA11993,NA11995,NA12044,NA12287,NA12776,NA12828,NA12878,NA12891,NA12892,NA18501,NA18532,NA18547,NA18564,NA18570,NA18603,NA18858,NA18861,NA18870,NA18916,NA18942,NA18943,NA18947,NA18949,NA18951,NA18956,NA18965,NA18973,NA19093,NA19102,NA19114,NA19210,NA19225,NA19239 nsv348859 6 122203370 122203370 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367437 M 24 "" esv7948 6 122203381 122203468 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30389 S 1 1 0 "" SJK esv1328915 6 122203475 122203475 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4019944 S 2 1 0 "" HuRef dgv6984n71 6 122306819 122388366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886595,nsv886596 M 6533 0 2 "" IS31373,IS35100 nsv511914 6 122342218 122344098 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624450 S 1 0 1 "" 1 esv2199981 6 122343217 122343855 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818687 S 1 0 1 "" NA18507 esv5107 6 122343296 122343753 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27548 S 1 0 1 Single Asian sample YH "" YH esv6705 6 122343348 122343675 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29146 S 1 0 1 "" SJK esv1786093 6 122343358 122343677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084426 S 2 0 1 "" HuRef nsv5459 6 122349035 122397004 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6086 S 9 0 1 "" NA12156 esv1001356 6 122358274 122361781 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564820 S 3 0 1 "" HuRef esv998402 6 122358549 122361955 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586793 S 3 0 1 "" HuRef nsv823832 6 122376139 122377565 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429123 S 31 0 1 "" AK12 nsv823833 6 122393754 122395099 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435915 S 31 0 1 "" NA18566 nsv830790 6 122512217 122673099 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445613 S 95 0 1 "" nsv886597 6 122561872 122671601 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552846,nssv1554615 M 6533 0 2 "" MS19634,MS20872 esv991663 6 122600946 122600946 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577886 S 3 1 0 "" HuRef esv1261650 6 122600947 122600947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4253231 S 2 1 0 "" HuRef nsv349282 6 122600948 122600948 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367860 M 24 "" nsv464038 6 122702668 122733724 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540032 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01078 esv21642 6 122717548 122739741 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16890,esv12614 M 451 2 1 "" NA12044,NA18517,NA18916 esv1009446 6 122717654 122717708 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572713 S 3 0 1 "" HuRef esv1207521 6 122717667 122717722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226832 S 2 0 1 "" HuRef dgv2006e1 6 122765634 122925836 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv468,essv20931 M 271 0 0 HSF2,PKIB,SERINC1 NA12801 nsv830791 6 122966661 123197854 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445614 S 95 1 0 FABP7,PKIB,SMPDL3A nsv886598 6 122992772 123029209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567720 S 6533 0 1 PKIB IS31142 dgv6985n71 6 123000138 123029209 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886600,nsv886599 M 6533 0 9 PKIB IS30331,IS30490,IS34523,IS35581,IS36657,IS36681,IS36689,IS38521,IS40446 esv2557344 6 123021267 123022147 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188243 S 1 1 0 PKIB NA18507 esv269943 6 123021673 123022008 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541072,essv2556633,essv2531937,essv2570373,essv2548554,essv2521733,essv2576734,essv2550394,essv2554223,essv2552112,essv2564731,essv2559646,essv2565236,essv2564157,essv2555084,essv2530794,essv2540120,essv2520759,essv2557368,essv2557099,essv2552391,essv2551687,essv2532246,essv2569462,essv2578815,essv2550248,essv2558721,essv2539118,essv2569813,essv2527170,essv2561434,essv2544658,essv2541223,essv2538201,essv2542637,essv2524496,essv2534861,essv2561150,essv2539608,essv2549150,essv2567720,essv2567517,essv2541864,essv2569943,essv2563647,essv2535507,essv2559267,essv2551078,essv2569165,essv2539285,essv2534160,essv2578363,essv2573087,essv2555328,essv2533712,essv2566424,essv2557750,essv2534344,essv2522568,essv2531376,essv2572067,essv2525712,essv2529697,essv2575450,essv2574990,essv2538615,essv2560747,essv2524308,essv2574788,essv2530326,essv2568471,essv2545024,essv2560401,essv2571257,essv2574180,essv2551373,essv2549074,essv2533123,essv2548003,essv2563488,essv2558079 M 157 81 0 Samples from several populations that are part of the HapMap project. PKIB NA07037,NA07051,NA07347,NA10847,NA10851,NA11831,NA11994,NA12006,NA12044,NA12045,NA12144,NA12154,NA12234,NA12287,NA12489,NA12751,NA12776,NA12812,NA12828,NA12872,NA12873,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18526,NA18545,NA18547,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18577,NA18582,NA18592,NA18593,NA18603,NA18608,NA18638,NA18858,NA18861,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18948,NA18953,NA18959,NA18960,NA18961,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19238,NA19240,NA19257 esv273778 6 123021684 123022015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584536,essv2583687 M 7 2 0 Samples from several populations that are part of the HapMap project. PKIB NA19239,NA19240 esv8540 6 123044315 123044414 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30981 S 1 1 0 PKIB SJK nsv349057 6 123097637 123099152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367635 M 24 "" nsv522150 6 123118271 123133784 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694924 S 2026 1 0 "" nsv886601 6 123118271 123143346 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523569 S 6533 1 0 FABP7 SP54092 nsv823834 6 123151710 123152488 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431369 S 31 1 0 SMPDL3A AK18 nsv819111 6 123172367 123172596 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419326 S 2 0 1 SMPDL3A AK1 esv1086023 6 123178362 123178418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749703 S 2 0 1 "" HuRef nsv464040 6 123238039 123274804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540033 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01319 nsv819949 6 123486811 123493143 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419767 S 2 1 0 "" AK1 nsv5460 6 123514079 123548001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv578 S 9 1 0 "" NA19240 nsv524559 6 123552715 124371375 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700513 S 2026 1 0 NKAIN2,TRDN esv2448006 6 123555898 123557571 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239956 S 1 0 1 "" NA18507 esv2050045 6 123556570 123557273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918754 S 1 0 1 "" NA18507 nsv349376 6 123556758 123557072 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367954 M 24 "" esv7347 6 123556763 123557069 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29788 S 1 0 1 "" SJK esv998433 6 123556764 123557078 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569869 S 3 0 1 "" HuRef esv1519755 6 123556769 123557084 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920848 S 2 0 1 "" HuRef esv1699630 6 123590870 123590965 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814772 S 2 0 1 TRDN HuRef esv274430 6 123599734 123599819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581546 S 7 1 0 Samples from several populations that are part of the HapMap project. TRDN NA12878 esv1205067 6 123629384 123629384 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766911 S 2 1 0 TRDN HuRef esv29144 6 123634008 123635058 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14961 S 451 0 10 TRDN NA07045,NA11931,NA12006,NA12287,NA12749,NA12776,NA15510,NA18909,NA19147,NA19190 dgv6986n71 6 123642406 123724727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886602,nsv886603 M 6533 0 5 TRDN IS30539,IS39923,IS41043,MS12266,MS18847 nsv470856 6 123664764 123719899 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544725 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TRDN HGDP00655 nsv886604 6 123669986 123771580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565473 S 6533 0 1 TRDN IS30432 nsv526420 6 123669986 123938996 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702721 S 2026 1 0 TRDN esv2576909 6 123688952 123689792 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298279 S 1 1 0 TRDN NA18507 esv274102 6 123689297 123690119 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580569,essv2579192,essv2579510 M 7 3 0 Samples from several populations that are part of the HapMap project. TRDN NA19238,NA19239,NA19240 esv270771 6 123689314 123689594 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510193,essv2495470,essv2500178,essv2501707,essv2512267,essv2513169,essv2503401,essv2493491,essv2493330,essv2504996,essv2508847,essv2500244,essv2496584,essv2510593,essv2494150,essv2503002,essv2493725,essv2506126,essv2500031,essv2500606,essv2499317,essv2505318,essv2494055,essv2507336,essv2495504,essv2504703,essv2506927,essv2503602,essv2495007,essv2513099 M 157 30 0 Samples from several populations that are part of the HapMap project. TRDN NA06986,NA07051,NA10847,NA10851,NA11919,NA12006,NA12144,NA12155,NA12249,NA12716,NA12763,NA12776,NA12828,NA12878,NA12891,NA18486,NA18501,NA18502,NA18507,NA18517,NA18523,NA18558,NA18571,NA18605,NA18853,NA18871,NA18912,NA18916,NA19099,NA19102 nsv886605 6 123710826 123852007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552847 S 6533 0 1 TRDN MS19634 nsv830792 6 123757675 123909907 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445615 S 95 1 0 TRDN nsv349422 6 123805116 123805420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368000 M 24 TRDN esv1326854 6 123805122 123805427 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052388 S 2 0 1 TRDN HuRef nsv520198 6 123809909 123834810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697275 S 2026 0 1 TRDN nsv886606 6 123809909 123868272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547951 S 6533 0 1 TRDN MS17642 nsv886607 6 123809909 123944240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600366 S 6533 0 1 TRDN IS41874 nsv886608 6 123860570 123884782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512939 S 6533 0 1 TRDN SP55655 nsv5461 6 123870374 123898312 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3467,nssv8290 M 9 2 0 TRDN NA12156,NA12878 nsv509152 6 123883854 123902001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619457 S 4 1 0 TRDN NA10860 nsv820113 6 123892635 123893456 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419091 S 2 0 1 TRDN AK1 esv1000992 6 123894944 123896785 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563642 S 3 1 0 TRDN HuRef esv273371 6 123895617 123901664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583974,essv2583811 M 7 2 0 Samples from several populations that are part of the HapMap project. TRDN NA19238,NA19240 esv269332 6 123895617 123901682 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565841,essv2570760,essv2545265,essv2570579,essv2548276,essv2550852,essv2525409,essv2578075,essv2561926,essv2537610,essv2528414,essv2553469,essv2573853,essv2536230,essv2533409,essv2554533 M 157 16 0 Samples from several populations that are part of the HapMap project. TRDN NA06986,NA07051,NA07346,NA11829,NA11993,NA12003,NA12044,NA12045,NA12155,NA12156,NA12761,NA12874,NA12878,NA12891,NA18605,NA18951 nsv886609 6 123945084 123981252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553829 S 6533 0 1 TRDN MS20346 nsv520332 6 123954465 123955693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697353 S 2026 0 1 TRDN nsv349674 6 123966006 123966006 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368252 M 24 TRDN esv1007052 6 123966007 123966007 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570756 S 3 1 0 TRDN HuRef esv1000882 6 124112462 124114396 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564741 S 3 0 1 "" HuRef esv1159785 6 124174355 124174355 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221537 S 2 1 0 NKAIN2 HuRef nsv5462 6 124223650 124225982 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8291 S 9 1 0 NKAIN2 NA12156 nsv823835 6 124228867 124230754 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438206 S 31 0 1 NKAIN2 NA18951 esv34079 6 124272751 124277983 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 NKAIN2 nsv886610 6 124346070 124433813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529150 S 6533 0 1 NKAIN2 SP81461 esv2156126 6 124358981 124359421 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724014 S 1 0 1 NKAIN2 NA18507 esv3756 6 124359062 124359284 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26197 S 1 0 1 Single Asian sample YH NKAIN2 YH esv1003542 6 124359159 124359232 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574002 S 3 0 1 NKAIN2 HuRef nsv349664 6 124359160 124359233 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368242 M 24 NKAIN2 esv2565664 6 124368175 124369702 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359914 S 1 0 1 NKAIN2 NA18507 nsv886611 6 124371012 124391083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600291 S 6533 0 1 NKAIN2 IS41867 nsv818453 6 124383894 124385638 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417873,nssv1417586 M 112 2 0 NKAIN2 NA18852,NA18972 esv2752089 6 124384362 124525535 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989607,essv6982316 M 771 0 1 NKAIN2 BEC_415 nsv525167 6 124424451 124429862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701241 S 2026 0 1 NKAIN2 nsv464042 6 124453652 124510591 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540034 S 1557 1 0 NKAIN2 1780862040_A nsv517303 6 124453652 124510591 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683421,nssv658101,nssv683526,nssv692903,nssv686456,nssv678888,nssv660802,nssv678716,nssv682159,nssv671674,nssv654266,nssv676344,nssv660201,nssv677395,nssv689204,nssv686431,nssv656079,nssv679974,nssv672408,nssv687758,nssv686820,nssv670294,nssv679306,nssv667096,nssv662236,nssv669569,nssv673259,nssv681203,nssv654616,nssv691072,nssv685883,nssv677836,nssv692619,nssv681173,nssv691289,nssv677200,nssv666110,nssv656527,nssv686783,nssv658602,nssv655045,nssv684873,nssv659311 M 2026 43 0 NKAIN2 esv271914 6 124466025 124468295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511191,essv2510358,essv2508989,essv2494554,essv2511476 M 157 5 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA07346,NA11931,NA12414,NA18522,NA18550 nsv830794 6 124468655 124632063 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445616 S 95 1 0 NKAIN2 dgv783n27 6 124470479 124513036 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464049,nsv464051,nsv464048,nsv464045,nsv464053,nsv464043,nsv464047,nsv464052,nsv464046,nsv464044 M 1557 10 0 NKAIN2 1782681296_A,1798860166_A,1798860279_A,HGDP00092,HGDP00527,HGDP00697,HGDP01363,NINDS_104,NINDS_238,NINDS_34 nsv886612 6 124470479 124519294 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589247,nssv1571025 M 6533 2 0 NKAIN2 IS32517,IS38330 esv29157 6 124474275 124512684 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13322 S 451 1 0 NKAIN2 NA11931 esv2422137 6 124477640 124512064 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5119184,essv5092206,essv5018464,essv5056997,essv5065692,essv5074232,essv5031974,essv5158466,essv5121594,essv5150028,essv5056534,essv5081197,essv5130574,essv5019129,essv5092735,essv5115237,essv5101501,essv5058330,essv5016742,essv5147998,essv5064519,essv5113835,essv5156129 M 1184 23 0 NKAIN2 NA06994,NA07029,NA10845,NA11832,NA11931,NA12335,NA12340,NA12344,NA12347,NA12832,NA12843,NA12875,NA19756,NA20801,NA20881,NA21123,NA21388,NA21389,NA21418,NA21440,NA21442,NA21517,NA21740 nsv442007 6 124477644 124512064 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NKAIN2 nsv514386 6 124478424 124510544 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627839 S 1414 1 0 NKAIN2 nsv818454 6 124479205 124510591 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417037,nssv1417036,nssv1415766 M 112 3 0 NKAIN2 NA06994,NA07029,NA12875 nsv470857 6 124479205 124513036 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544727,nssv544726 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NKAIN2 HGDP00382,HGDP01363 nsv464054 6 124479205 124526687 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540046 S 1557 1 0 NKAIN2 NINDS_204 dgv6987n71 6 124510591 124575824 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886614,nsv886613 M 6533 0 3 NKAIN2 SP50916,SP54645,SP80913 esv2616735 6 124540232 124541842 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186841 S 1 0 1 NKAIN2 NA18507 esv2132883 6 124540415 124541133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860295 S 1 0 1 NKAIN2 NA18507 esv4901 6 124540565 124540986 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27342 S 1 0 1 Single Asian sample YH NKAIN2 YH esv5558 6 124540613 124540927 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27999 S 1 0 1 NKAIN2 SJK esv270121 6 124566672 124566995 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499193 S 157 1 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA19114 nsv886615 6 124613066 124668814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564869 S 6533 0 1 NKAIN2 IS30311 nsv464055 6 124631416 124661545 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540047 S 1557 0 1 NKAIN2 NINDS_145 nsv5463 6 124644252 124689012 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8292 S 9 0 1 NKAIN2 NA12156 nsv470858 6 124645089 124673155 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544728 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NKAIN2 HGDP00697 esv268470 6 124660522 124660909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496840,essv2496535,essv2493674,essv2500442,essv2508714,essv2507240,essv2495523,essv2503148,essv2497888,essv2501367,essv2504827,essv2498968,essv2497470,essv2496943,essv2512048,essv2502064 M 157 16 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA18498,NA18510,NA18517,NA18537,NA18592,NA18870,NA18916,NA18943,NA18945,NA19093,NA19099,NA19114,NA19147,NA19190,NA19238,NA19257 esv273933 6 124660528 124660886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580135,essv2580415 M 7 2 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA12878,NA12891 nsv886616 6 124677340 125176092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548846 S 6533 1 0 NKAIN2 MS17879 esv2532592 6 124680459 124682072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290341 S 1 0 1 NKAIN2 NA18507 dgv6988n71 6 124683460 124718415 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886617,nsv886620,nsv886619 M 6533 20 0 NKAIN2 IS30181,IS34779,IS35025,IS35568,IS35605,IS35911,IS36936,IS37744,IS37801,IS38143,IS39116,IS40103,IS40227,IS40382,IS40622,IS41448,IS41871,MS13444,MS19582,MS23709 nsv464057 6 124683460 124718922 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540048 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NKAIN2 HGDP00066 nsv886618 6 124688620 124703255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588397,nssv1590639 M 6533 2 0 NKAIN2 IS38187,IS38542 nsv470859 6 124691747 124703255 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544729 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NKAIN2 HGDP00066 nsv886621 6 124693931 124730454 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568749,nssv1540209,nssv1578886 M 6533 0 3 NKAIN2 IS31335,IS34962,MS14737 nsv348535 6 124698236 124700420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367113 M 24 NKAIN2 esv267914 6 124751192 124751277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516733,essv2515130 M 157 2 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA11881,NA12812 nsv886622 6 124755226 124861976 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554243 S 6533 1 0 NKAIN2 MS20681 esv998361 6 124798688 124799275 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587238 S 3 1 0 NKAIN2 HuRef esv2571117 6 124877577 124879007 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333026 S 1 0 1 NKAIN2 NA18507 esv2403297 6 124878397 124878867 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843165 S 1 0 1 NKAIN2 NA18507 esv2843 6 124878479 124878749 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25284 S 1 0 1 Single Asian sample YH NKAIN2 YH nsv886623 6 124907149 124953264 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554244 S 6533 1 0 NKAIN2 MS20681 esv269696 6 124907188 124907516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565851,essv2546334,essv2542428,essv2522943,essv2548269,essv2550261,essv2544436,essv2561903,essv2552620,essv2566953,essv2551051,essv2569097,essv2562199,essv2574984,essv2560618,essv2574597,essv2568673 M 157 17 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA11829,NA11881,NA11919,NA11931,NA12045,NA12234,NA12414,NA12874,NA18502,NA18853,NA18858,NA18861,NA18909,NA19102,NA19116,NA19138,NA19147 nsv348725 6 124950244 124950294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367303 M 24 NKAIN2 esv259742 6 124953288 124953698 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397975,essv2399596,essv2399228,essv2395697,essv2396302,essv2400840,essv2399566,essv2397175,essv2398813,essv2398941,essv2399129,essv2396842,essv2398435,essv2394889,essv2397474,essv2395472,essv2398130,essv2395138,essv2400396,essv2397396,essv2399539 M 144 0 0 Samples from several populations that are part of the HapMap project. NKAIN2 NA12751,NA12761,NA18508,NA18532,NA18558,NA18564,NA18570,NA18572,NA18582,NA18603,NA18609,NA18638,NA18871,NA18942,NA18947,NA18948,NA18949,NA18953,NA18960,NA18980,NA19137 nsv5464 6 124958437 125003251 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8293 S 9 0 1 NKAIN2 NA12156 nsv512893 6 125049864 125050750 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625538 S 1 1 0 NKAIN2 1 esv1062584 6 125050278 125050278 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263446 S 2 1 0 NKAIN2 HuRef esv1174920 6 125050364 125050364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638282 S 2 1 0 NKAIN2 HuRef esv1164700 6 125050411 125050411 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645043 S 2 1 0 NKAIN2 HuRef esv2299970 6 125079448 125079877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512535 S 1 0 1 NKAIN2 NA18507 esv275123 6 125217032 125231683 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585971 S 1250 0 1 "" nsv823836 6 125228032 125228474 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424260 S 31 0 1 "" NA18582 nsv886624 6 125245137 125322825 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548847 S 6533 1 0 STL MS17879 esv275592 6 125293741 125295231 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585524,essv2586008 M 1250 1 1 STL nsv819530 6 125371782 125372734 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419134 S 2 1 0 RNF217 AK1 nsv886625 6 125416165 125703731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548848 S 6533 1 0 HDDC2,RNF217,TPD52L1 MS17879 nsv830795 6 125419531 125622962 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445618 S 95 0 1 RNF217,TPD52L1 nsv5466 6 125439510 125484101 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8294 S 9 0 1 RNF217 NA12156 esv270419 6 125463085 125463426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571805,essv2546154,essv2526060,essv2556606,essv2577288,essv2570599,essv2521656,essv2576603,essv2550848,essv2558664,essv2564766,essv2577858,essv2553857,essv2554901,essv2537467,essv2547050,essv2557472,essv2551779,essv2578811,essv2569668,essv2527046,essv2524669,essv2534656,essv2519557,essv2530954,essv2567330,essv2569925,essv2572580,essv2542061,essv2568985,essv2543747,essv2528098,essv2539382,essv2555267,essv2555618,essv2566462,essv2527721,essv2534267,essv2531372,essv2573346,essv2575072,essv2560716,essv2524173,essv2568748,essv2549960,essv2546028,essv2574389,essv2536187,essv2538157,essv2533157,essv2554706,essv2525062,essv2563526,essv2558143 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07357,NA10847,NA10851,NA11840,NA11881,NA11918,NA11994,NA12043,NA12044,NA12144,NA12154,NA12155,NA12750,NA12751,NA12761,NA12763,NA12872,NA12878,NA12892,NA18499,NA18504,NA18510,NA18520,NA18522,NA18555,NA18561,NA18566,NA18573,NA18582,NA18593,NA18609,NA18856,NA18861,NA18870,NA18907,NA18912,NA18943,NA18945,NA18948,NA18952,NA18959,NA18961,NA18964,NA19102,NA19116,NA19129,NA19147,NA19225,NA19239,NA19240 esv272307 6 125463085 125463426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581728,essv2582306 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2429609 6 125503744 125505596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229240 S 1 0 1 "" NA18507 esv2274299 6 125504349 125505237 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738480 S 1 0 1 "" NA18507 esv259835 6 125538681 125539004 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395379,essv2399182,essv2396583,essv2396106,essv2395507,essv2398834,essv2398997,essv2400166,essv2399425,essv2397387,essv2398766,essv2397997 M 144 0 0 Samples from several populations that are part of the HapMap project. TPD52L1 NA12749,NA12776,NA18507,NA18523,NA18563,NA18582,NA18605,NA18608,NA18858,NA18980,NA19005,NA19147 nsv886626 6 125566417 125649002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531413 S 6533 1 0 HDDC2,TPD52L1 MS10441 dgv6989n71 6 125570673 125635515 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886631,nsv886634,nsv886632,nsv886628,nsv886630,nsv886633,nsv886627 M 6533 24 0 TPD52L1 MS13257,SP50118,SP50137,SP50825,SP51439,SP51469,SP51494,SP52369,SP52761,SP53288,SP53349,SP53602,SP53964,SP54119,SP54173,SP55055,SP56238,SP56818,SP58318,SP80986,SP81353,SP81407,SP81503,SP81507 nsv886629 6 125573809 125618130 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517617 S 6533 1 0 TPD52L1 SP57328 nsv886635 6 125627886 125766058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569131 S 6533 0 1 HDDC2 IS31441 esv29347 6 125630634 125637613 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19558 S 451 1 0 "" NA07045 nsv820070 6 125638381 125638866 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418971 S 2 1 0 HDDC2 AK1 esv997052 6 125746742 125753182 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564295 S 3 0 1 "" HuRef esv2462171 6 125748190 125753910 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244611 S 1 0 1 "" NA18507 esv2520232 6 125750057 125753927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325230 S 1 0 1 "" NA18507 esv2188680 6 125750270 125753255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852344 S 1 0 1 "" NA18507 esv2535524 6 125767349 125768917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249027 S 1 0 1 "" NA18507 nsv823837 6 125905801 125907106 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426726 S 31 0 1 "" AK6 esv1512196 6 126135739 126135739 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162824 S 2 1 0 "" HuRef nsv5467 6 126187144 126200796 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2613 S 9 0 1 NCOA7 NA18555 nsv830796 6 126207326 126377861 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445619 S 95 0 1 HINT3,NCOA7,TRMT11 esv2425031 6 126224111 126229655 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390160 S 1 0 1 NCOA7 NA18507 nsv436509 6 126224168 126229042 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466318 S 2 0 1 Samples from several populations that are part of the HapMap project. NCOA7 NA18505 esv2599261 6 126224476 126229548 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245747 S 1 0 1 NCOA7 NA18507 nsv499628 6 126224737 126229050 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586001 S 9 0 1 NCOA7 nsv820882 6 126224752 126229235 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420604 S 1 0 1 NCOA7 NA10851 dgv1064n67 6 126224752 126229386 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823839,nsv823838 M 31 0 9 NCOA7 AK2,AK4,NA18526,NA18537,NA18542,NA18564,NA18570,NA18973,NA18999 esv23026 6 126224962 126228845 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10347 S 451 22 2 NCOA7 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18517,NA18861,NA18907,NA18909,NA19108,NA19129,NA19225,NA19257 nsv514387 6 126225096 126228464 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627840 S 1414 0 1 NCOA7 esv2421628 6 126225385 126228469 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038250,essv5037852,essv5026667,essv5099082,essv5146981,essv5123253,essv5034811,essv5145251,essv5046230,essv5064759,essv5027299,essv5141303,essv5130813,essv5047557,essv5056858,essv5097502,essv5068738,essv5153981,essv5028258,essv5082326,essv5051856,essv5038121,essv5075914,essv5043237,essv5100849,essv5031070,essv5135666,essv5105088,essv5151628,essv5009634,essv5018341,essv5081832,essv5016496,essv5131634,essv5113015,essv5007824,essv5128724,essv5040720,essv5084880,essv5052203,essv5083144,essv5112826,essv5071670,essv5075313,essv5042289,essv5041378,essv5150722,essv5006456,essv5041631,essv5027192,essv5122268,essv5158620,essv5145657,essv5040652,essv5053491,essv5064670,essv5134677,essv5158651,essv5092087,essv5118653,essv5092026,essv5029712,essv5138001,essv5152734,essv5115909,essv5076666,essv5068982,essv5141802,essv5102431,essv5142479,essv5092912,essv5141899,essv5095184,essv5044755,essv5137498,essv5014733,essv5044167,essv5137548,essv5037328,essv5003420,essv5078698,essv5105721,essv5107208,essv5121401,essv5148408,essv5119065,essv5106762,essv5007453,essv5129767,essv5091639,essv5045666,essv5052848,essv5064483,essv5029333,essv5087849,essv5022971,essv5034878,essv5142299,essv5030770,essv5061843,essv5124685,essv5100795,essv5048050,essv5028772,essv5035045,essv5057740,essv5088137,essv5098957,essv5097756,essv5041817,essv5101061,essv5033166,essv5025516,essv5112914,essv5110101,essv5040080,essv5042910,essv5062538,essv5130934,essv5082004,essv5075628,essv5133482,essv5082313,essv5070028,essv5050919,essv5078793,essv5040362,essv5140898,essv5056444,essv5062183,essv5132973,essv5149111,essv5043311,essv5122190,essv5130188,essv5149390,essv5102715,essv5131976,essv5143125,essv5025569,essv5039321,essv5066437,essv5109426,essv5028269,essv5085469,essv5046971,essv5139111,essv5056755,essv5159366,essv5122815,essv5129327,essv5146858,essv5043539,essv5115894,essv5109195,essv5078707,essv5061036,essv5045491,essv5057136,essv5121331,essv5038748,essv5066000,essv5012964,essv5157956,essv5101693,essv5020630,essv5124807,essv5014946,essv5056376,essv5030796,essv5131211,essv5050484,essv5021263,essv5067519,essv5158367,essv5061329,essv5153162,essv5122950,essv5021578,essv5030118,essv5104365,essv5076386,essv5121354,essv5135765,essv5095811,essv5146098,essv5028766,essv5046036,essv5005756,essv5008578,essv5032573,essv5061127,essv5021668,essv5027072,essv5015076,essv5140552,essv5073785,essv5033681,essv5097857,essv5036519,essv5066305,essv5139488,essv5041564,essv5141493,essv5070424,essv5028338,essv5071681,essv5014716,essv5116760,essv5103268,essv5131633,essv5082814,essv5069672,essv5086872,essv5005322,essv5146860,essv5015539,essv5112084,essv5118064,essv5020910,essv5028605,essv5018607,essv5033551,essv5059515,essv5114626,essv5015068,essv5046886,essv5073385,essv5092727,essv5072871,essv5038741,essv5011454,essv5016212,essv5051708,essv5061256,essv5071167,essv5049940,essv5016200,essv5125627,essv5072648,essv5116540,essv5022952,essv5085928,essv5049234,essv5016622,essv5155721,essv5137138,essv5053339,essv5153634,essv5119423,essv5126978,essv5138194,essv5130374,essv5049001,essv5039312,essv5021461,essv5086143,essv5065752,essv5101603,essv5033189,essv5072062,essv5046775,essv5140315,essv5068165,essv5120445,essv5043353,essv5076133,essv5002883,essv5023398,essv5034409,essv5011215,essv5136061,essv5049439,essv5048999,essv5048374,essv5146036,essv5041829,essv5052591,essv5107471,essv5074179,essv5019131,essv5119479,essv5138821,essv5113177,essv5094850,essv5113643,essv5139146,essv5065792,essv5080123,essv5106969,essv5127582,essv5101219,essv5070075,essv5073020,essv5130978,essv5081901,essv5094635,essv5151480,essv5154592,essv5154480,essv5152772,essv5086621,essv5042929,essv5119614,essv5118564,essv5093040,essv5146653,essv5129506,essv5093890,essv5134848,essv5008132,essv5014023,essv5050147,essv5034419,essv5043174,essv5152970,essv5044047,essv5021893,essv5048054,essv5136047,essv5108904,essv5040435,essv5046630,essv5049964,essv5028597,essv5071259,essv5113264,essv5072013,essv5100473,essv5127856,essv5032347,essv5155960,essv5010381,essv5062624,essv5089834,essv5038924,essv5083462,essv5115325,essv5147012,essv5111469,essv5112626,essv5126727,essv5017816,essv5141398,essv5069688,essv5157003,essv5061099,essv5090774,essv5033793,essv5052272,essv5007134,essv5097169,essv5037374,essv5081379,essv5085609,essv5143746,essv5080892,essv5077038,essv5153628,essv5052421,essv5077255,essv5072841,essv5083597,essv5127371,essv5098395,essv5126299,essv5118461,essv5160423,essv5100611,essv5053047,essv5135739,essv5134289,essv5042662,essv5048113,essv5020213,essv5084799,essv5147092,essv5152088,essv5004228,essv5119392,essv5023606,essv5142747,essv5064939,essv5041729,essv5020950,essv5050615,essv5120059,essv5056878,essv5063234,essv5141124,essv5026062,essv5131322,essv5054912,essv5004449,essv5134879,essv5094350,essv5138146,essv5030309,essv5025431,essv5043893,essv5134629,essv5010138,essv5100622,essv5140233,essv5146594,essv5049495,essv5135042,essv5045910,essv5013995,essv5042550,essv5073228,essv5151305,essv5065167,essv5031371,essv5131125,essv5149507,essv5049554,essv5039533,essv5057883,essv5026685,essv5012013,essv5043035,essv5128243,essv5019193,essv5016196,essv5104082,essv5117743,essv5148483,essv5125116,essv5021912,essv5107566,essv5117033,essv5017014,essv5137288,essv5103524,essv5084893,essv5089701,essv5076303,essv5020024,essv5029226,essv5042629,essv5132263,essv5084018,essv5137878,essv5128022,essv5104433,essv5061101,essv5054311,essv5085741,essv5093819,essv5018999,essv5084604,essv5051677,essv5033123,essv5134697,essv5152455,essv5148186,essv5151165,essv5089967,essv5013798,essv5130316,essv5008779,essv5005240,essv5086305,essv5049332,essv5145370,essv5151238,essv5154412,essv5106423,essv5135173,essv5064294,essv5012886,essv5121398,essv5101343,essv5064103,essv5158258,essv5040976,essv5088377,essv5140924,essv5033631,essv5058879,essv5133105,essv5154231,essv5065000,essv5019849,essv5134898,essv5016990,essv5018320,essv5083477,essv5079477 M 1184 0 490 NCOA7 NA06989,NA06997,NA07000,NA07014,NA07029,NA07031,NA07045,NA07051,NA07055,NA07346,NA10835,NA10836,NA10852,NA10853,NA10861,NA11829,NA11843,NA11917,NA11992,NA11994,NA12003,NA12044,NA12045,NA12056,NA12057,NA12155,NA12239,NA12249,NA12275,NA12283,NA12335,NA12336,NA12340,NA12400,NA12413,NA12718,NA12739,NA12748,NA12750,NA12752,NA12760,NA12762,NA12766,NA12775,NA12776,NA12813,NA12873,NA12877,NA12889,NA12890,NA17965,NA17968,NA17970,NA17981,NA17986,NA17987,NA17993,NA17995,NA17996,NA18102,NA18105,NA18106,NA18112,NA18118,NA18127,NA18128,NA18129,NA18131,NA18132,NA18135,NA18138,NA18139,NA18143,NA18144,NA18148,NA18150,NA18152,NA18154,NA18157,NA18161,NA18162,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18505,NA18506,NA18507,NA18508,NA18511,NA18515,NA18516,NA18518,NA18519,NA18520,NA18526,NA18532,NA18534,NA18537,NA18542,NA18543,NA18545,NA18550,NA18555,NA18561,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18599,NA18605,NA18608,NA18609,NA18610,NA18611,NA18613,NA18614,NA18617,NA18618,NA18619,NA18620,NA18622,NA18626,NA18627,NA18632,NA18633,NA18636,NA18642,NA18645,NA18682,NA18694,NA18696,NA18740,NA18757,NA18853,NA18854,NA18858,NA18859,NA18867,NA18869,NA18870,NA18872,NA18909,NA18911,NA18912,NA18913,NA18914,NA18923,NA18939,NA18946,NA18948,NA18953,NA18955,NA18959,NA18960,NA18972,NA18973,NA18974,NA18975,NA18991,NA18995,NA18999,NA19000,NA19027,NA19028,NA19035,NA19044,NA19055,NA19060,NA19062,NA19063,NA19064,NA19067,NA19072,NA19077,NA19078,NA19083,NA19084,NA19093,NA19094,NA19099,NA19102,NA19103,NA19107,NA19113,NA19114,NA19115,NA19116,NA19119,NA19120,NA19121,NA19128,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19197,NA19198,NA19200,NA19201,NA19202,NA19203,NA19206,NA19207,NA19208,NA19210,NA19211,NA19214,NA19225,NA19238,NA19239,NA19240,NA19248,NA19307,NA19309,NA19310,NA19311,NA19313,NA19314,NA19315,NA19317,NA19318,NA19324,NA19327,NA19332,NA19346,NA19350,NA19360,NA19371,NA19374,NA19375,NA19376,NA19379,NA19383,NA19390,NA19393,NA19398,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19436,NA19438,NA19439,NA19440,NA19444,NA19445,NA19448,NA19449,NA19452,NA19455,NA19456,NA19457,NA19466,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19681,NA19684,NA19704,NA19711,NA19712,NA19716,NA19718,NA19720,NA19722,NA19747,NA19748,NA19750,NA19773,NA19775,NA19780,NA19782,NA19784,NA19788,NA19794,NA19828,NA19834,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA20129,NA20276,NA20279,NA20282,NA20284,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20297,NA20301,NA20302,NA20317,NA20322,NA20332,NA20333,NA20342,NA20343,NA20345,NA20346,NA20347,NA20349,NA20357,NA20359,NA20360,NA20363,NA20364,NA20502,NA20506,NA20508,NA20516,NA20519,NA20521,NA20530,NA20539,NA20540,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20754,NA20755,NA20759,NA20765,NA20766,NA20771,NA20772,NA20778,NA20783,NA20787,NA20795,NA20799,NA20800,NA20804,NA20805,NA20807,NA20826,NA20828,NA20872,NA20875,NA20881,NA20891,NA20894,NA20900,NA21107,NA21116,NA21118,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21311,NA21320,NA21336,NA21339,NA21352,NA21357,NA21360,NA21361,NA21364,NA21367,NA21368,NA21371,NA21379,NA21381,NA21385,NA21386,NA21388,NA21389,NA21391,NA21400,NA21401,NA21402,NA21405,NA21408,NA21417,NA21418,NA21420,NA21423,NA21425,NA21434,NA21436,NA21438,NA21440,NA21442,NA21448,NA21451,NA21453,NA21455,NA21473,NA21478,NA21486,NA21487,NA21488,NA21489,NA21490,NA21494,NA21509,NA21510,NA21517,NA21520,NA21521,NA21524,NA21525,NA21573,NA21574,NA21575,NA21578,NA21582,NA21583,NA21587,NA21599,NA21601,NA21608,NA21613,NA21615,NA21616,NA21617,NA21619,NA21620,NA21631,NA21632,NA21635,NA21647,NA21648,NA21650,NA21682,NA21685,NA21686,NA21693,NA21716,NA21718,NA21722,NA21723,NA21739,NA21740,NA21741,NA21784,NA21825,NA21826 nsv441685 6 126225385 126228469 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NCOA7 nsv886636 6 126319923 126425169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499995 S 6533 0 1 HINT3,TRMT11 SP50073 esv271340 6 126363876 126364191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511808 S 157 1 0 Samples from several populations that are part of the HapMap project. TRMT11 NA18499 nsv527938 6 126394279 126415458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704446 S 2026 0 1 TRMT11 esv268372 6 126412031 126412336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497575 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19147 esv272453 6 126465337 126465675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581930,essv2583242,essv2584478,essv2583439 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 esv269540 6 126465338 126465664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2534967,essv2537446,essv2547068,essv2557429,essv2552666,essv2532279,essv2569432,essv2536922,essv2527166,essv2561321,essv2542801,essv2540340,essv2570254,essv2551065,essv2578309,essv2533806,essv2577048,essv2525704,essv2526968,essv2538668,essv2526385,essv2560686,essv2524114,essv2574935,essv2530230,essv2545883,essv2574496,essv2551236,essv2533034 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12249,NA12878,NA12892,NA18499,NA18502,NA18505,NA18508,NA18517,NA18522,NA18523,NA18550,NA18552,NA18593,NA18858,NA18940,NA18944,NA18970,NA18980,NA19005,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19239,NA19240,NA19257 esv2632880 6 126508920 126510407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363026 S 1 0 1 "" NA18507 esv2105402 6 126509633 126510135 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500473 S 1 0 1 "" NA18507 esv1009193 6 126509701 126509937 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578890 S 3 0 1 "" HuRef esv270233 6 126550710 126551037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557261,essv2552708,essv2532063,essv2527292,essv2566954,essv2542201,essv2551066,essv2568862,essv2533979,essv2538594,essv2526544,essv2560641,essv2530390,essv2572639,essv2568447,essv2545232 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18505,NA18522,NA18853,NA18856,NA18858,NA18861,NA18916,NA19108,NA19114,NA19116,NA19141,NA19143,NA19147,NA19172 nsv5468 6 126696031 126730143 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2733 S 9 1 0 CENPW NA18555 nsv830797 6 126965568 127142649 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445620 S 95 1 0 "" nsv886637 6 126969410 127027044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518515 S 6533 0 1 "" SP57669 esv271112 6 127345766 127346106 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511749,essv2496323,essv2494934,essv2500938,essv2509478 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18510,NA18520,NA18856,NA19129 nsv528549 6 127574074 127585608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705161 S 2026 0 1 "" nsv7385 6 127600818 127638965 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10516 S 9 0 0 RNF146 NA18956 esv269243 6 127730970 127731055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513990 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv830798 6 127882719 128029543 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445621 S 95 0 1 C6orf58 nsv5469 6 127952249 127987285 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv579 S 9 1 0 C6orf58 NA19240 dgv6990n71 6 127996307 128150937 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886640,nsv886643,nsv886647,nsv886646,nsv886638,nsv886645,nsv886648,nsv886642,nsv886644,nsv886641 M 6533 23 0 THEMIS MS11064,MS12050,MS13148,MS13177,MS14295,MS15022,MS15743,MS15991,MS16164,MS18112,MS19301,MS19700,MS21449,MS21674,MS23703,MS24498,MS25285,MS25303,MS25696,SP50559,SP54049,SP56197,SP81276 nsv886639 6 127996307 128150937 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541562,nssv1553739,nssv1558788,nssv1554815 M 6533 4 0 THEMIS MS15365,MS20269,MS21017,MS23541 nsv819539 6 128072598 128072928 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418715 S 2 1 0 THEMIS AK1 nsv830799 6 128074793 128236204 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445623,nssv1445622 M 95 0 2 THEMIS nsv518548 6 128088406 128104520 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695991 S 2026 0 1 THEMIS esv2484840 6 128097773 128098148 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262099 S 1 0 1 THEMIS NA18507 esv1281893 6 128109799 128109799 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209177 S 2 1 0 THEMIS HuRef esv1510942 6 128109874 128109874 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331195 S 2 1 0 THEMIS HuRef esv6210 6 128189351 128189407 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28651 S 1 1 0 THEMIS SJK nsv525919 6 128204085 128204621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702123 S 2026 0 1 THEMIS nsv7967 6 128346664 128357116 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15226 S 31 1 0 Samples from several populations that are part of the HapMap project. PTPRK NA18552 nsv5470 6 128355189 128389518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3468 S 9 1 0 PTPRK NA12878 nsv510906 6 128358853 128371718 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622378 S 4 0 0 PTPRK NA10860 esv990030 6 128367912 128370369 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564877 S 3 1 0 PTPRK HuRef esv1288742 6 128368543 128368543 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259415 S 2 1 0 PTPRK HuRef nsv886649 6 128441350 128849747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540189 S 6533 0 1 PTPRK MS14728 nsv516794 6 128445438 128472199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670919,nssv693267 M 2026 0 2 PTPRK nsv886650 6 128445438 128555088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576321,nssv1569928 M 6533 2 0 PTPRK IS31748,IS34005 nsv5471 6 128461130 128472072 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8295 S 9 0 1 PTPRK NA12156 nsv528869 6 128463455 128538250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705549 S 2026 0 1 PTPRK esv24443 6 128474463 128479266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16561 S 451 0 1 PTPRK NA11894 dgv6991n71 6 128491712 128607471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886653,nsv886651,nsv886654 M 6533 0 3 PTPRK MS18847,SP57266,SP57401 nsv886652 6 128497232 128538250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512799 S 6533 0 1 PTPRK SP55630 nsv830800 6 128752324 128920128 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445624 S 95 1 0 PTPRK esv268724 6 128827618 128827703 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516466,essv2515548 M 157 2 0 Samples from several populations that are part of the HapMap project. PTPRK NA12814,NA12815 esv25848 6 128869204 128871248 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11105 S 451 0 1 PTPRK NA12878 nsv516115 6 128869961 128870789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679961,nssv661181,nssv666379,nssv676833,nssv666305 M 2026 0 5 PTPRK dgv2007e1 6 128883885 128886524 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24312,esv298 M 271 0 0 "" NA10856 nsv350152 6 128886899 128886899 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368730 M 24 "" esv2592771 6 128899040 128900468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377753 S 1 0 1 "" NA18507 nsv830801 6 128920129 129106360 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445625 S 95 0 1 "" nsv510911 6 128962961 128975643 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621593 S 4 0 0 "" NA15510 esv2067068 6 129017856 129018432 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4925387 S 1 0 1 "" NA18507 esv4134 6 129018009 129018376 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26575 S 1 0 1 Single Asian sample YH "" YH esv2630065 6 129030858 129032536 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187526 S 1 0 1 "" NA18507 esv2183109 6 129031325 129032053 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904577 S 1 0 1 "" NA18507 esv4212 6 129031463 129031891 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26653 S 1 0 1 Single Asian sample YH "" YH nsv349364 6 129031510 129031843 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367942 M 24 "" esv9089 6 129031525 129031853 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31530 S 1 0 1 "" SJK nsv5472 6 129084328 129119192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv580 S 9 1 0 "" NA19240 esv273304 6 129087500 129087761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580581 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268509 6 129087507 129087766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558074,essv2570746,essv2552636,essv2532075,essv2550025,essv2537016,essv2539006,essv2527367,essv2561660,essv2544838,essv2562927,essv2541408,essv2538205,essv2542851,essv2540339,essv2524590,essv2564990,essv2534674,essv2561006,essv2549299,essv2560117,essv2521971,essv2566251,essv2530985,essv2532764,essv2541713,essv2570115,essv2563621,essv2553206,essv2572588,essv2559089,essv2569040,essv2556191,essv2539469,essv2578379,essv2573078,essv2555464,essv2555577,essv2555913,essv2534301,essv2531614,essv2573752,essv2543188,essv2577114,essv2572024,essv2526764,essv2575108,essv2526465,essv2560755,essv2572905,essv2568513,essv2545156,essv2549801,essv2571540,essv2546000,essv2551241,essv2538154 M 157 57 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10851,NA12044,NA18502,NA18505,NA18511,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18570,NA18571,NA18572,NA18573,NA18576,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18861,NA18871,NA18912,NA18940,NA18942,NA18943,NA18945,NA18956,NA18959,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19102,NA19114,NA19116,NA19143,NA19147,NA19172,NA19225,NA19238,NA19239,NA19257 nsv510049 6 129144848 129150848 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622126 S 4 0 1 "" NA10860 nsv830802 6 129215769 129424531 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445626 S 95 1 0 LAMA2 esv1930975 6 129243939 129244316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697345 S 1 0 1 "" NA18507 nsv823840 6 129265906 129266487 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425037 S 31 0 1 LAMA2 AK2 dgv2008e1 6 129315361 129484648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv857,essv4865,esv274,essv5322 M 271 0 0 LAMA2 NA18540,NA18563,NA19000 nsv886655 6 129337533 129410496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556047 S 6533 0 1 LAMA2 MS21771 nsv5473 6 129347306 129389429 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4942,nssv6087 M 9 0 2 LAMA2 NA12156,NA19129 nsv508429 6 129357973 129373362 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618797 S 4 0 1 LAMA2 NA10860 nsv436523 6 129360753 129367914 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466319 S 2 0 1 Samples from several populations that are part of the HapMap project. LAMA2 NA18505 nsv499655 6 129361208 129367283 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586002 S 9 0 1 LAMA2 nsv507359 6 129363227 129369227 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617720,nssv622988,nssv620355 M 4 3 0 LAMA2 CHM,NA15510,NA18994 nsv830803 6 129470348 129631919 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445627 S 95 1 0 LAMA2 esv2129462 6 129542701 129543094 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720195 S 1 0 1 LAMA2 NA18507 esv33261 6 129542724 129543172 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97273,essv100009 M 51 0 2 LAMA2 22075,22086 nsv517933 6 129575017 129575312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695345 S 2026 0 1 LAMA2 esv1990859 6 129649741 129650139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971665 S 1 0 1 LAMA2 NA18507 nsv348464 6 129649858 129649928 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367042 M 24 LAMA2 nsv348924 6 129649885 129649955 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367502 M 24 LAMA2 esv259520 6 129660810 129661087 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394151,essv2393679,essv2394375 M 6 0 0 Samples from several populations that are part of the HapMap project. LAMA2 NA12878,NA19238,NA19240 nsv348787 6 129660990 129660990 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367365 M 24 LAMA2 nsv350076 6 129722478 129722478 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368654 M 24 LAMA2 nsv350022 6 129722481 129722481 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368600 M 24 LAMA2 nsv528240 6 129746282 129748811 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704802 S 2026 0 1 LAMA2 nsv512894 6 129747952 129748074 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625539 S 1 1 0 LAMA2 1 esv1619204 6 129747984 129747984 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251572 S 2 1 0 LAMA2 HuRef esv33666 6 129767842 129767948 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98885,essv100348 M 51 2 0 LAMA2 21606,22300 esv33659 6 129768810 129769235 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94470,essv97109 M 51 2 0 LAMA2 21808,22075 esv32679 6 129772822 129773321 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101498,essv98846,essv101103,essv100778,essv100997,essv98315,essv94758,essv94317,essv93135,essv95914,essv99089,essv93790,essv97284,essv99807,essv93439,essv93186,essv100233,essv100339,essv99515,essv96382 M 51 20 0 LAMA2 21603,21606,21618,21656,21693,21772,21791,21808,21863,21911,21938,21972,22075,22086,22128,22170,22286,22300,22335,22371 esv269819 6 129774495 129774803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512567,essv2510695,essv2496445,essv2513406,essv2495693,essv2511941 M 157 6 0 Samples from several populations that are part of the HapMap project. LAMA2 NA18489,NA18501,NA18510,NA18907,NA18916,NA19238 esv274524 6 129774506 129774775 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580635,essv2578907 M 7 2 0 Samples from several populations that are part of the HapMap project. LAMA2 NA19238,NA19239 esv2481557 6 129777834 129779370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323805 S 1 0 1 LAMA2 NA18507 esv2393123 6 129778648 129779295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998570 S 1 0 1 LAMA2 NA18507 esv4704 6 129778654 129779166 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27145 S 1 0 1 Single Asian sample YH LAMA2 YH nsv348741 6 129778764 129779077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367319 M 24 LAMA2 esv2621974 6 129778779 129779092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233383 S 1 0 1 LAMA2 NA18507 esv1153219 6 129778782 129779096 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015113 S 2 0 1 LAMA2 HuRef esv7931 6 129778785 129779071 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30372 S 1 0 1 LAMA2 SJK esv33104 6 129779114 129781030 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100628 S 51 1 0 LAMA2 21656 esv33882 6 129782284 129828284 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99987 S 51 0 1 LAMA2 22086 esv2560686 6 129787217 129788287 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263345 S 1 1 0 LAMA2 NA18507 esv272629 6 129787683 129788022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580858 S 7 1 0 Samples from several populations that are part of the HapMap project. LAMA2 NA19238 esv271598 6 129787717 129787988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512574,essv2510585,essv2493212,essv2502996,essv2509914,essv2496476,essv2496176,essv2506243,essv2507099,essv2494036,essv2513275,essv2507290,essv2495566,essv2512044,essv2502100 M 157 15 0 Samples from several populations that are part of the HapMap project. LAMA2 NA18489,NA18501,NA18504,NA18507,NA18508,NA18510,NA18511,NA18523,NA18870,NA18871,NA18907,NA18912,NA18916,NA19238,NA19257 nsv5474 6 129818520 129851117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2614 S 9 1 0 LAMA2 NA18555 nsv886656 6 129854746 129946942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523101 S 6533 0 1 ARHGAP18,LAMA2 SP53643 esv273133 6 129869899 129870024 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581694,essv2582778,essv2584505,essv2583782 M 7 4 0 Samples from several populations that are part of the HapMap project. LAMA2 NA12878,NA12892,NA19239,NA19240 esv271241 6 129869903 129870167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526040,essv2545514,essv2531813,essv2548485,essv2521844,essv2550451,essv2554208,essv2544430,essv2552301,essv2520311,essv2547239,essv2564541,essv2578023,essv2554937,essv2537281,essv2528222,essv2546751,essv2523653,essv2540470,essv2563630,essv2572388,essv2575756,essv2568595,essv2533080,essv2558114 M 157 25 0 Samples from several populations that are part of the HapMap project. LAMA2 NA07051,NA10851,NA11918,NA12003,NA12006,NA12045,NA12144,NA12234,NA12287,NA12414,NA12489,NA12716,NA12717,NA12751,NA12761,NA12872,NA12878,NA12891,NA12892,NA18537,NA18552,NA18603,NA18609,NA19099,NA19147 nsv524782 6 129938194 130087370 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700773 S 2026 0 1 ARHGAP18 esv2639935 6 129981920 129982569 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319417 S 1 1 0 ARHGAP18 NA18507 esv1498345 6 129987821 129988010 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723769 S 2 0 1 ARHGAP18 HuRef esv1584644 6 129988179 129988432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108111 S 2 0 1 ARHGAP18 HuRef esv1575536 6 129988438 129988870 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020996 S 2 0 1 ARHGAP18 HuRef nsv830805 6 130057758 130196504 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445632,nssv1445631,nssv1445630 M 95 3 0 ARHGAP18,C6orf191 nsv886657 6 130059255 130087370 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579838 S 6533 0 1 ARHGAP18 IS35181 nsv522152 6 130066322 130070083 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694925 S 2026 1 0 ARHGAP18 nsv886658 6 130098274 130122966 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598313 S 6533 0 1 "" IS41113 dgv6992n71 6 130235897 130293486 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886659,nsv886661,nsv886660 M 6533 5 0 "" MS10228,MS12972,MS13205,MS13777,MS18722 nsv886662 6 130255805 130293486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549341 S 6533 1 0 "" MS18192 esv2803 6 130623794 130624335 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25244 S 1 0 1 Single Asian sample YH "" YH nsv886663 6 130634639 130708583 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532104 S 6533 0 1 "" MS10720 nsv510050 6 130648277 130654277 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618245,nssv621291 M 4 0 2 "" CHM,NA15510 esv268191 6 130656459 130656756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557845,essv2565725,essv2540857,essv2571668,essv2521122,essv2542564,essv2544148,essv2545385,essv2531914,essv2577552,essv2521734,essv2550403,essv2520632,essv2558360,essv2578014,essv2553608,essv2565516,essv2520100,essv2537592,essv2528272,essv2540155,essv2569369,essv2578681,essv2558957,essv2538859,essv2569636,essv2544815,essv2552748,essv2542631,essv2540663,essv2561057,essv2539610,essv2549426,essv2559948,essv2566154,essv2531203,essv2567799,essv2570093,essv2553448,essv2572471,essv2559354,essv2569133,essv2533973,essv2572989,essv2555302,essv2555486,essv2567036,essv2566671,essv2530055,essv2557723,essv2534252,essv2522523,essv2573741,essv2543365,essv2575770,essv2560256,essv2548062,essv2549864,essv2545898,essv2574184,essv2548690,essv2533193,essv2563218 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA10847,NA10851,NA11829,NA11831,NA11840,NA11894,NA11919,NA11992,NA12003,NA12006,NA12043,NA12144,NA12234,NA12716,NA12750,NA12761,NA12763,NA12812,NA12815,NA12878,NA12891,NA18489,NA18508,NA18510,NA18516,NA18519,NA18520,NA18526,NA18542,NA18550,NA18552,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18577,NA18593,NA18605,NA18609,NA18638,NA18861,NA18916,NA18942,NA18943,NA18945,NA18947,NA18948,NA18949,NA18953,NA18959,NA18960,NA18964,NA18965,NA19099,NA19190,NA19210,NA19225,NA19239,NA19240 esv274329 6 130656459 130656756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581883,essv2582690,essv2583259 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv507360 6 130789752 130795752 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622989,nssv620356,nssv617721 M 4 3 0 "" CHM,NA15510,NA18994 esv2525679 6 130889860 130894002 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323649 S 1 0 0 "" NA18507 nsv436709 6 130892316 130894765 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466320 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv507361 6 130918326 130924326 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621860 S 4 1 0 "" NA10860 nsv5475 6 130921862 130966543 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8297 S 9 0 1 "" NA12156 esv271887 6 130943128 130943364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520833,essv2561650,essv2562288,essv2572799 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18523,NA18909,NA19143 esv268627 6 130975845 130976191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500095,essv2507685 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18573,NA18576 nsv830806 6 130980023 131148830 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445633 S 95 1 0 "" esv2867 6 131001003 131001460 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25308 S 1 0 1 Single Asian sample YH "" YH nsv522019 6 131059646 131061320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694787 S 2026 0 1 "" esv2584437 6 131061054 131062463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392031 S 1 0 1 "" NA18507 esv267631 6 131099239 131099580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516787,essv2514136,essv2514767,essv2518617,essv2516094 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12234,NA12287,NA12873 esv271069 6 131154925 131155282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518706,essv2516457,essv2517852,essv2516182,essv2516871,essv2517178,essv2519443 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12045,NA12814,NA12878,NA12891,NA12892,NA18970 esv273290 6 131154934 131155281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581804,essv2582688,essv2584744,essv2583720 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 esv267684 6 131217137 131217472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558056,essv2546285,essv2568356,essv2545452,essv2577295,essv2548457,essv2521682,essv2547217,essv2529276,essv2564702,essv2576444,essv2564124,essv2555028,essv2530734,essv2566082,essv2535776,essv2559048,essv2535927,essv2548727 M 157 19 0 Samples from several populations that are part of the HapMap project. EPB41L2 NA06986,NA07037,NA10851,NA11881,NA11995,NA12003,NA12043,NA12045,NA12144,NA12717,NA12749,NA12751,NA12814,NA12828,NA12872,NA12873,NA18572,NA18608,NA18638 esv270827 6 131315154 131315501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517004,essv2514859,essv2515165,essv2516420,essv2515538,essv2514341,essv2517744,essv2519432 M 157 8 0 Samples from several populations that are part of the HapMap project. EPB41L2 NA07346,NA11931,NA12234,NA12812,NA12814,NA12815,NA12874,NA12878 esv273885 6 131315154 131315501 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581139 S 7 1 0 Samples from several populations that are part of the HapMap project. EPB41L2 NA19240 nsv5477 6 131350848 131384290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8298 S 9 1 0 EPB41L2 NA12156 nsv830807 6 131432645 131623624 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445634 S 95 0 1 AKAP7 esv26013 6 131438914 131459888 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10623 S 451 1 0 "" NA11894 esv7262 6 131459596 131460678 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29703 S 1 0 1 "" SJK esv2302827 6 131481994 131482501 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833375 S 1 0 1 "" NA18507 esv3746 6 131482175 131482357 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26187 S 1 0 1 Single Asian sample YH "" YH esv2442799 6 131482220 131482298 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364490 S 1 0 1 "" NA18507 nsv886664 6 131485536 131796623 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524510 S 6533 1 0 AKAP7 SP55064 nsv507362 6 131520725 131526725 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621861,nssv617722,nssv622990,nssv620357 M 4 4 0 AKAP7 CHM,NA10860,NA15510,NA18994 nsv886665 6 131560587 131653002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525337 S 6533 1 0 AKAP7 SP56426 nsv830808 6 131562808 131777013 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445636,nssv1445635,nssv1445637 M 95 0 3 AKAP7 nsv886666 6 131615126 131707988 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564796 S 6533 1 0 AKAP7 IS30300 nsv5478 6 131677031 131710837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3469 S 9 1 0 "" NA12878 nsv518565 6 131778995 131779347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694249 S 2026 0 1 "" dgv33e194 6 131844816 131845196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2385250,esv2297470 M 1 0 1 "" NA18507 nsv886667 6 131849203 131918636 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525338 S 6533 1 0 "" SP56426 esv28464 6 131851473 131857809 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10175,esv9745 M 451 2 0 "" NA12828,NA18916 nsv886668 6 131856558 131996490 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524511 S 6533 1 0 ARG1,MED23 SP55064 esv2578384 6 131925500 131927192 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384649 S 1 0 0 "" NA18507 nsv7968 6 131958865 132362792 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14660,nssv15004,nssv13571,nssv17610 M 31 0 4 Samples from several populations that are part of the HapMap project. CTAGE9,CTGF,ENPP1,ENPP3,MED23,OR2A4 NA10839,NA12872,NA18853,NA19221 dgv88n68 6 131995621 132180089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv830809,nsv830810 M 95 0 2 CTAGE9,ENPP1,ENPP3,OR2A4 nsv886669 6 132033225 132100767 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584450,nssv1570935 M 6533 2 0 CTAGE9,ENPP3,OR2A4 IS32361,IS37029 esv24430 6 132060465 132078008 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14141,esv20379 M 451 3 15 CTAGE9,ENPP3,OR2A4 NA11894,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12489,NA12776,NA12828,NA15510,NA18508,NA18511,NA18517,NA19108,NA19147,NA19190,NA19257 nsv821228 6 132060465 132079128 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420605 S 1 1 0 CTAGE9,ENPP3,OR2A4 NA10851 nsv471444 6 132063302 132064234 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548295,nssv548294,nssv548293 M 3 ENPP3,OR2A4 esv2637208 6 132079158 132080000 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248092 S 1 1 0 ENPP3 NA18507 esv1329374 6 132079563 132079563 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835527 S 2 1 0 ENPP3 HuRef dgv6993n71 6 132112886 132245125 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886670,nsv886671 M 6533 2 0 ENPP1 IS33263,IS35100 esv2445825 6 132122902 132124406 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260366 S 1 0 1 "" NA18507 esv1978517 6 132123516 132124088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838698 S 1 0 1 "" NA18507 nsv5479 6 132143590 132178286 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3470 S 9 0 1 ENPP1 NA12878 esv1010826 6 132145930 132149840 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565779 S 3 0 1 "" HuRef esv2587623 6 132147452 132150937 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300664 S 1 0 1 "" NA18507 esv2630901 6 132147495 132151618 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225058 S 1 0 1 "" NA18507 esv2082211 6 132148108 132150655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518706 S 1 0 1 "" NA18507 dgv162e180 6 132148264 132150449 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1000856,esv991940 M 3 0 1 "" HuRef nsv514388 6 132148272 132150128 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627841 S 1414 0 0 "" nsv499718 6 132148294 132150482 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586003 S 9 0 1 "" esv1010807 6 132148297 132150480 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571610 S 3 0 1 "" HuRef esv23742 6 132148313 132160223 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18912,esv19692,esv21004 M 451 0 2 "" NA11894,NA12878 esv2621656 6 132154521 132161440 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289897 S 1 0 1 "" NA18507 esv2503027 6 132155080 132160675 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235738 S 1 0 1 "" NA18507 esv988486 6 132155437 132160983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563798 S 3 0 1 "" HuRef esv1972520 6 132155733 132160433 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739598 S 1 0 1 "" NA18507 dgv163e180 6 132155853 132160298 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999284,esv1008341 M 3 0 1 "" HuRef nsv499719 6 132155921 132160242 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586004 S 9 0 1 "" esv1718828 6 132265335 132265397 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228274 S 2 0 1 "" HuRef nsv507363 6 132292974 132298974 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617723,nssv622991,nssv620358,nssv621862 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv470861 6 132333478 132393559 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544730 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891 dgv6994n71 6 132341441 132405200 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886673,nsv886672 M 6533 0 2 "" IS32607,MS18847 esv273834 6 132362089 132362454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580985 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267589 6 132362105 132362435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521286,essv2542535,essv2536699,essv2523412,essv2548284,essv2550801,essv2535333,essv2558408,essv2559576,essv2565421,essv2564069,essv2537364,essv2546747,essv2557178,essv2551863,essv2569414,essv2578647,essv2549986,essv2536951,essv2539177,essv2527065,essv2561529,essv2552940,essv2534707,essv2549278,essv2519834,essv2521896,essv2566146,essv2541475,essv2535661,essv2542097,essv2551003,essv2569122,essv2562310,essv2539237,essv2578399,essv2566474,essv2530074,essv2527574,essv2557590,essv2555802,essv2531491,essv2577090,essv2525600,essv2529802,essv2575249,essv2538646,essv2560648,essv2568491,essv2545186,essv2560288,essv2549711,essv2551523,essv2535948,essv2524884 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11894,NA11919,NA11920,NA12004,NA12045,NA12155,NA12249,NA12750,NA12776,NA12812,NA12828,NA12878,NA12892,NA18501,NA18504,NA18508,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18542,NA18561,NA18564,NA18566,NA18571,NA18572,NA18592,NA18608,NA18856,NA18858,NA18861,NA18909,NA18912,NA18940,NA18948,NA18949,NA18952,NA18953,NA18956,NA18961,NA18970,NA18980,NA19093,NA19102,NA19108,NA19116,NA19147,NA19172,NA19190,NA19225,NA19257 esv23984 6 132417263 132420688 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9824 S 451 0 1 "" NA12878 esv271288 6 132567793 132568123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523076,essv2523468,essv2521776,essv2550787,essv2564243,essv2562091,essv2569533,essv2544721,essv2553102,essv2564844,essv2534671,essv2539790,essv2549268,essv2519619,essv2532653,essv2541516,essv2553180,essv2542168,essv2543501,essv2562483,essv2578195,essv2555770,essv2529873,essv2557677,essv2531288,essv2543107,essv2577119,essv2571843,essv2575355,essv2538663,essv2535915,essv2554552,essv2547997,essv2563491 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA07347,NA10847,NA11931,NA12004,NA12144,NA12155,NA12828,NA12874,NA18508,NA18526,NA18542,NA18558,NA18561,NA18563,NA18564,NA18566,NA18576,NA18592,NA18605,NA18856,NA18870,NA18909,NA18940,NA18945,NA18949,NA18953,NA18961,NA18965,NA18970,NA18973,NA19102,NA19108 esv2599973 6 132585534 132586492 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181520 S 1 1 0 "" NA18507 esv269648 6 132585728 132586243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503001,essv2493685,essv2494868 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18517,NA18520 nsv823841 6 132591024 132591613 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440402 S 31 0 1 "" NA18564 nsv886674 6 132655491 132736444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565852 S 6533 0 1 MOXD1 IS30531 nsv830811 6 132664853 132829232 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445641 S 95 1 0 MOXD1,STX7 nsv886675 6 132725455 132772640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573641 S 6533 0 1 MOXD1 IS33475 nsv818455 6 132736444 132743942 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415652 S 112 0 1 MOXD1 NA10835 esv2257358 6 132739149 132739831 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603817 S 1 0 1 MOXD1 NA18507 esv2791 6 132739276 132739839 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25232 S 1 0 1 Single Asian sample YH MOXD1 YH esv1005349 6 132739323 132739645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571422 S 3 0 1 MOXD1 HuRef esv5479 6 132739327 132739647 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27920 S 1 0 1 MOXD1 SJK esv1048627 6 132739335 132739658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697941 S 2 0 1 MOXD1 HuRef nsv5480 6 132747307 132755733 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3471 S 9 0 1 MOXD1 NA12878 nsv499756 6 132749239 132754115 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586005 S 9 0 1 MOXD1 esv23627 6 132749344 132754170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19195 S 451 0 2 MOXD1 NA11894,NA12878 esv9597 6 132749885 132749962 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32038 S 1 1 0 MOXD1 SJK esv2422115 6 132751050 132754736 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5142364,essv5109236,essv5057162,essv5094661,essv5005449,essv5145598,essv5063190,essv5089260,essv5145432,essv5048389,essv5046597,essv5058759,essv5149957,essv5010856,essv5152231,essv5092630,essv5003214,essv5157618,essv5085206,essv5123153,essv5132164,essv5086845,essv5128751,essv5137898,essv5003876,essv5040318,essv5159219,essv5070280,essv5104688,essv5119286,essv5035568,essv5071021,essv5122535,essv5122366,essv5076505,essv5157370,essv5110658,essv5111695,essv5008050,essv5083202,essv5048390,essv5009893 M 1184 0 42 MOXD1 NA11894,NA12748,NA12874,NA12878,NA12891,NA19747,NA19782,NA19784,NA20506,NA20519,NA20524,NA20538,NA20540,NA20541,NA20544,NA20581,NA20753,NA20786,NA20792,NA20813,NA20815,NA20828,NA20847,NA20851,NA20861,NA20866,NA20871,NA20872,NA20874,NA20876,NA20883,NA20887,NA20898,NA20902,NA21094,NA21098,NA21103,NA21104,NA21108,NA21112,NA21115,NA21144 nsv442008 6 132751050 132754736 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MOXD1 nsv514389 6 132751304 132754176 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627842 S 1414 0 1 MOXD1 esv999923 6 132802410 132803795 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586530 S 3 1 0 "" HuRef nsv819019 6 132822988 132823218 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419348 S 2 0 1 STX7 AK1 esv275102 6 133038369 133043158 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586052,essv2585721 M 1250 1 1 "" nsv517934 6 133104609 133114343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695346 S 2026 0 1 VNN2 esv271946 6 133139609 133140357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516449 S 157 1 0 Samples from several populations that are part of the HapMap project. C6orf192 NA12814 nsv886676 6 133153399 133210275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557612 S 6533 0 1 C6orf192,RPS12,SNORA33,SNORD100,SNORD101 MS22770 esv2601223 6 133201227 133202269 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332062 S 1 1 0 "" NA18507 esv267539 6 133201782 133202109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540955,essv2546393,essv2521187,essv2536681,essv2545376,essv2577618,essv2548607,essv2576713,essv2525544,essv2547614,essv2529343,essv2564522,essv2577757,essv2553596,essv2559520,essv2565298,essv2564082,essv2530818,essv2546662,essv2520968,essv2557059,essv2552486,essv2551928,essv2532181,essv2562665,essv2569249,essv2578744,essv2537033,essv2569646,essv2527308,essv2561346,essv2541245,essv2538285,essv2540462,essv2565125,essv2560144,essv2528897,essv2567414,essv2535580,essv2572373,essv2550938,essv2569010,essv2543728,essv2527774,essv2562246,essv2539450,essv2533845,essv2578404,essv2572974,essv2573917,essv2556048,essv2543382,essv2572046,essv2529743,essv2575563,essv2575317,essv2538657,essv2526546,essv2523986,essv2574752,essv2530246,essv2572789,essv2568774,essv2560480,essv2548156,essv2571532,essv2545709,essv2574304,essv2551483,essv2535992,essv2537996,essv2548927,essv2547799,essv2557922 M 157 74 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07347,NA10851,NA11831,NA11881,NA11894,NA11920,NA12003,NA12043,NA12045,NA12154,NA12156,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12812,NA12828,NA12873,NA12892,NA18498,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18520,NA18522,NA18523,NA18545,NA18547,NA18552,NA18558,NA18570,NA18579,NA18582,NA18608,NA18609,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18951,NA18956,NA18965,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19141,NA19143,NA19147,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv273572 6 133201782 133202109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581961,essv2582608,essv2582904 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv428154 6 133313668 133564496 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450851 S 62 0 1 LINC00326 NA19147 nsv5481 6 133353358 133416241 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10517,nssv2615,nssv9698,nssv581,nssv4943,nssv6089 M 9 0 6 "" NA12156,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508430 6 133378021 133389944 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618798,nssv619983 M 4 0 2 "" NA10860,NA15510 nsv510907 6 133378021 133396764 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618692 S 4 0 0 "" CHM esv995142 6 133380940 133391367 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565334 S 3 0 1 "" HuRef esv2605375 6 133383243 133390591 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345864 S 1 0 1 "" NA18507 nsv511915 6 133383250 133389724 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624451 S 1 0 1 "" 1 esv2216035 6 133383339 133389775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551044 S 1 0 1 "" NA18507 dgv115n16 6 133383357 133391506 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435837,nsv436514 M 2 0 2 "" NA15510,NA18505 esv3693 6 133383487 133389660 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26134 S 1 0 1 Single Asian sample YH "" YH esv1281378 6 133383513 133389578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703713 S 2 0 1 "" HuRef nsv499320 6 133383513 133389593 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586006 S 9 0 1 "" esv6804 6 133383529 133389596 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29245 S 1 0 1 "" SJK nsv519475 6 133392629 133516366 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681290,nssv656310 M 2026 2 0 LINC00326 esv2469188 6 133412501 133414072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261156 S 1 0 1 "" NA18507 esv1974807 6 133412978 133413735 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627800 S 1 0 1 "" NA18507 esv3403 6 133413013 133413599 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25844 S 1 0 1 Single Asian sample YH "" YH esv9154 6 133413194 133413524 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31595 S 1 0 1 "" SJK dgv2009e1 6 133486412 133669057 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv224,essv19921 M 271 0 0 EYA4 NA12813 nsv886677 6 133496431 133557295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569964 S 6533 0 1 "" IS31758 nsv5482 6 133526041 133556257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv582 S 9 1 0 "" NA19240 esv267889 6 133526645 133532731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510657,essv2509182,essv2497978 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18909,NA19240 esv272901 6 133526648 133526733 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581381 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv519757 6 133534200 133539013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673734,nssv658196 M 2026 0 2 "" nsv524926 6 133534200 133552384 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700939 S 2026 0 1 "" nsv464058 6 133534200 133569628 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540049 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00966 nsv470862 6 133534200 133642095 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544731 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYA4 HGDP00864 nsv7970 6 133557110 133563154 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14690 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv523300 6 133577465 133581888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699040 S 2026 0 1 "" nsv886678 6 133591972 133672883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554922 S 6533 0 1 EYA4 MS21100 nsv5483 6 133595996 133641031 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8299 S 9 0 1 EYA4 NA12156 nsv886679 6 133620426 133676965 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600413 S 6533 0 1 EYA4 IS41881 nsv886680 6 133655452 133704714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536896 S 6533 0 1 EYA4 MS13011 nsv521665 6 133668941 133669930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698284 S 2026 0 1 EYA4 nsv5484 6 133714121 133749004 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv583 S 9 1 0 EYA4 NA19240 nsv5485 6 133755812 133789325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4944 S 9 1 0 EYA4 NA19129 nsv525971 6 133768339 133795518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702186 S 2026 0 1 EYA4 esv268823 6 133773415 133773638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500855,essv2503221,essv2496664,essv2506792,essv2511474,essv2499330,essv2507952,essv2502299,essv2500238,essv2512467,essv2508068,essv2512230,essv2513173,essv2495332,essv2495869,essv2503382,essv2508551,essv2502602,essv2507773,essv2503794,essv2493449,essv2508902,essv2500313,essv2502807,essv2513014,essv2504589,essv2494452,essv2503470,essv2502415,essv2512368,essv2493146,essv2497430,essv2495945,essv2495174,essv2503629,essv2495802,essv2503951,essv2495091,essv2504397,essv2499520 M 157 40 0 Samples from several populations that are part of the HapMap project. EYA4 NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA11830,NA11881,NA11894,NA11918,NA11920,NA11994,NA12003,NA12004,NA12006,NA12043,NA12045,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA12892,NA18547,NA18563,NA18572,NA18947,NA18948,NA18949,NA18951,NA18959,NA18961,NA18964 esv273095 6 133773423 133773598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580202,essv2580455,essv2580049 M 7 3 0 Samples from several populations that are part of the HapMap project. EYA4 NA12878,NA12891,NA12892 nsv819864 6 133787244 133789040 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419329 S 2 0 1 EYA4 AK1 esv28257 6 133787627 133789056 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11882 S 451 0 6 EYA4 NA18523,NA18861,NA18916,NA19108,NA19147,NA19225 nsv823843 6 133787771 133789011 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440403,nssv1426727,nssv1429124 M 31 0 3 EYA4 AK12,AK6,NA18564 nsv886681 6 133874977 133911310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560384 S 6533 0 1 EYA4 MS24459 nsv886682 6 133933901 133985425 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597711 S 6533 0 1 "" IS41263 nsv818457 6 133941232 133947437 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417874 S 112 1 0 "" NA18852 nsv437014 6 133961469 133965775 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466895 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA06991 esv28248 6 133991394 133992160 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10527 S 451 0 1 "" NA12776 nsv522975 6 133998544 133998632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698645 S 2026 0 1 "" nsv830812 6 134035590 134207100 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445642 S 95 1 0 MGC34034 esv1965165 6 134074803 134075218 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580971 S 1 0 1 "" NA18507 nsv5486 6 134080762 134116063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv584 S 9 1 0 "" NA19240 esv34122 6 134130712 134419945 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 MGC34034,SLC2A12,TBPL1,TCF21 esv2608977 6 134133260 134134883 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287255 S 1 0 1 "" NA18507 esv2011634 6 134196054 134196581 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522858 S 1 0 1 MGC34034 NA18507 esv994787 6 134196239 134196366 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566337 S 3 0 1 MGC34034 HuRef esv1653143 6 134196250 134196378 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704804 S 2 0 1 MGC34034 HuRef nsv511916 6 134310285 134311570 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624452 S 1 0 1 "" 1 esv8603 6 134310670 134311424 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31044 S 1 0 1 "" SJK esv26639 6 134310674 134311405 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15240 S 451 35 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820631 6 134310674 134311405 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420606 S 1 0 1 "" NA10851 nsv507364 6 134315777 134321777 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617724 S 4 1 0 TBPL1 CHM esv2441837 6 134333250 134334558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350272 S 1 0 1 TBPL1 NA18507 esv275229 6 134444589 134448102 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585934,essv2585162 M 1250 1 1 "" nsv515846 6 134507593 134508166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664995,nssv658234,nssv693705,nssv680490,nssv666567,nssv683868,nssv659969,nssv672511 M 2026 0 8 "" nsv348798 6 134517197 134526925 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367376 M 24 "" nsv441702 6 134592448 134598896 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SGK1 dgv395n21 6 134596031 134599082 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521411,nsv523127 M 2026 2 0 SGK1 esv25399 6 134631119 134636149 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13631 S 451 0 10 SGK1 NA07037,NA07045,NA11894,NA12006,NA12156,NA12776,NA15510,NA19099,NA19108,NA19240 esv1004173 6 134631357 134637036 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564422 S 3 0 1 SGK1 HuRef nsv499444 6 134631367 134636263 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586007 S 9 0 1 SGK1 nsv823844 6 134631402 134636027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438888,nssv1437481,nssv1432917,nssv1429871,nssv1424264,nssv1423460,nssv1440404,nssv1430636,nssv1440485,nssv1433330,nssv1426729,nssv1435916,nssv1432113,nssv1425038,nssv1439724,nssv1438207,nssv1426728,nssv1427162,nssv1431371,nssv1428344,nssv1435142,nssv1421760,nssv1427540,nssv1436684 M 31 0 24 SGK1 AK10,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18537,NA18542,NA18547,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 nsv819323 6 134631431 134637075 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419726 S 2 0 1 SGK1 AK1 nsv514390 6 134631584 134635872 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627843 S 1414 0 1 SGK1 dgv2010e1 6 134665824 134752836 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv119,essv242 M 271 0 0 SGK1 NA18948 nsv7971 6 134672845 134675323 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14695 S 31 0 1 Samples from several populations that are part of the HapMap project. SGK1 NA18980 nsv464059 6 134728553 134785905 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540050 S 1557 1 0 "" 1780862310_A esv274041 6 134729190 134729335 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580092,essv2580409,essv2580044 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv2511653 6 134758491 134759918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288493 S 1 0 1 "" NA18507 esv2269162 6 134758930 134759350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4974975 S 1 0 1 "" NA18507 esv1551670 6 134767337 134767337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102101 S 2 1 0 "" HuRef esv1005098 6 134812200 134812200 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578375 S 3 1 0 LOC154092 HuRef esv1057853 6 134812201 134812201 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936342 S 2 1 0 LOC154092 HuRef nsv349515 6 134812251 134812251 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368093 M 24 LOC154092 esv1714351 6 134838670 134838790 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606903 S 2 0 1 LOC154092 HuRef nsv508431 6 134850742 134919812 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622558 S 4 0 1 LOC154092 NA18994 esv2617044 6 134858546 134859992 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161932 S 1 0 1 LOC154092 NA18507 esv1932955 6 134858859 134859561 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700418 S 1 0 1 LOC154092 NA18507 esv4430 6 134858986 134859439 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26871 S 1 0 1 Single Asian sample YH LOC154092 YH esv8543 6 134859054 134859361 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30984 S 1 0 1 LOC154092 SJK esv1286346 6 134859054 134859371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020133 S 2 0 1 LOC154092 HuRef esv2460354 6 135049612 135051200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267692 S 1 0 1 "" NA18507 nsv830813 6 135092504 135274812 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445643 S 95 0 1 "" esv24808 6 135103774 135104440 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16387 S 451 0 1 "" NA12006 nsv520431 6 135145917 135146623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694382 S 2026 0 1 "" nsv5488 6 135186589 135230707 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3472 S 9 0 1 "" NA12878 esv23970 6 135202221 135206470 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15818 S 451 0 1 "" NA18508 nsv5489 6 135266128 135311575 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6090 S 9 0 1 ALDH8A1 NA12156 esv2650557 6 135270018 135271610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279044 S 1 0 1 "" NA18507 nsv464063 6 135277227 135524259 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540052 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ALDH8A1,HBS1L,MIR3662 HGDP00181 nsv886683 6 135281505 135305250 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595236 S 6533 0 1 ALDH8A1 IS40188 esv275200 6 135377110 135391449 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585589,essv2585221 M 1250 1 1 HBS1L nsv886684 6 135388044 135450731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568787 S 6533 0 1 HBS1L IS31338 nsv886685 6 135474245 135582862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579839 S 6533 0 1 MYB IS35181 nsv5490 6 135527395 135561319 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8300 S 9 1 0 MYB NA12156 nsv521009 6 135757068 135762978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679741,nssv687303 M 2026 0 2 AHI1,MIR548H4 nsv519167 6 135796164 135814918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694312 S 2026 0 1 AHI1,MIR548H4 nsv521884 6 135796164 135867394 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694656 S 2026 0 1 AHI1,LINC00271,MIR548H4 nsv819668 6 135945664 135948278 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419455 S 2 0 1 LINC00271,MIR548H4 AK1 esv269248 6 135977177 135977339 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515886 S 157 1 0 Samples from several populations that are part of the HapMap project. LINC00271,MIR548H4 NA12873 nsv886686 6 135996871 136109709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600447 S 6533 0 1 LINC00271,MIR548H4 IS41887 nsv830814 6 136022361 136197846 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445644 S 95 0 1 LINC00271,MIR548H4 nsv522833 6 136024808 136043720 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698483 S 2026 0 1 LINC00271,MIR548H4 nsv518511 6 136031343 136079920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695951 S 2026 0 1 LINC00271,MIR548H4 nsv830816 6 136147027 136341490 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445646,nssv1445645 M 95 2 0 MIR548H4,PDE7B nsv819509 6 136158199 136160452 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419408 S 2 0 1 MIR548H4 AK1 esv2530297 6 136276759 136278278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304595 S 1 0 1 MIR548H4,PDE7B NA18507 esv2263540 6 136277125 136277801 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973368 S 1 0 1 MIR548H4,PDE7B NA18507 esv2919 6 136277219 136277661 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25360 S 1 0 1 Single Asian sample YH MIR548H4,PDE7B YH esv8107 6 136277321 136277619 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30548 S 1 0 1 MIR548H4,PDE7B SJK dgv2011e1 6 136399747 136408668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1680,esv960 M 271 0 0 PDE7B NA18992 nsv818458 6 136399886 136408090 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417648 S 112 0 1 PDE7B NA18992 esv268004 6 136408690 136408775 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517462,essv2515991,essv2516208,essv2516824 M 157 4 0 Samples from several populations that are part of the HapMap project. PDE7B NA11918,NA12873,NA12891,NA12892 esv274646 6 136408703 136409000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580547,essv2579788 M 7 2 0 Samples from several populations that are part of the HapMap project. PDE7B NA19238,NA19240 esv1491990 6 136514613 136514613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998089 S 2 1 0 PDE7B HuRef nsv526684 6 136541095 136580101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703016 S 2026 0 1 PDE7B esv9082 6 136624321 136630991 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31523 S 1 0 1 BCLAF1 SJK esv1925105 6 136635938 136638531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888376 S 1 0 1 BCLAF1 NA18507 esv6857 6 136636019 136638439 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29298 S 1 0 1 BCLAF1 SJK esv990963 6 136639339 136640694 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569600 S 3 0 1 BCLAF1 HuRef esv2063708 6 136641483 136642698 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499482 S 1 0 1 BCLAF1 NA18507 esv2161601 6 136642626 136652627 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680019 S 1 0 1 BCLAF1 NA18507 esv4525 6 136645467 136652599 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26966 S 1 0 1 Single Asian sample YH BCLAF1 YH nsv464064 6 136838904 137039312 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540053 S 1557 0 1 MAP3K5,MAP7 1780854123_A esv27134 6 136868177 136869437 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13487 S 451 0 1 MAP7 NA18505 esv2614575 6 136892893 136895345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259517 S 1 0 1 MAP7 NA18507 esv2067162 6 136893174 136894806 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541089 S 1 0 1 MAP7 NA18507 dgv1065n67 6 136893365 136894617 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823846,nsv823845 M 31 0 7 MAP7 AK10,AK12,AK2,AK6,NA18947,NA18969,NA18972 esv24386 6 136893366 136894626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10171 S 451 0 15 MAP7 NA18508,NA18511,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv6777 6 136893371 136894625 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29218 S 1 0 1 MAP7 SJK nsv820004 6 136893395 136894645 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419212 S 2 0 1 MAP7 AK1 esv1485820 6 137295884 137295884 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756844 S 2 1 0 "" HuRef esv2583111 6 137354867 137356345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262444 S 1 0 1 NHEG1 NA18507 esv1005917 6 137354930 137356192 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564527 S 3 0 1 NHEG1 HuRef esv1986124 6 137355205 137356050 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716152 S 1 0 1 NHEG1 NA18507 esv3252 6 137355343 137355998 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25693 S 1 0 1 Single Asian sample YH NHEG1 YH esv5711 6 137355386 137355884 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28152 S 1 0 1 NHEG1 SJK dgv226n6 6 137355387 137355880 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv348517,nsv348800 M 24 NHEG1 esv1158600 6 137355387 137355880 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000257 S 2 0 1 NHEG1 HuRef nsv349973 6 137390939 137397516 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368551 M 24 IL20RA esv2421898 6 137430261 137460049 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152317,essv5065311,essv5110484,essv5045307,essv5133230,essv5160084,essv5139996,essv5125191,essv5039307,essv5119747,essv5022610,essv5094801,essv5152068,essv5105071,essv5119066,essv5120960,essv5109025,essv5128224,essv5157825,essv5062537,essv5053125,essv5041561,essv5010388,essv5052980,essv5015476,essv5052454,essv5017880,essv5008869 M 1184 28 0 "" NA18870,NA18872,NA19035,NA19200,NA19203,NA19307,NA19310,NA19372,NA19404,NA19429,NA19438,NA19456,NA19675,NA19678,NA19900,NA20340,NA20756,NA21316,NA21367,NA21385,NA21386,NA21453,NA21493,NA21519,NA21578,NA21597,NA21615,NA21685 nsv442009 6 137430261 137460049 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470863 6 137443470 138376989 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544733 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IFNGR1,IL22RA2,OLIG3,TNFAIP3 HGDP00448 nsv886687 6 137445220 137532053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511799 S 6533 0 1 IL22RA2 SP55100 esv2573979 6 137479951 137480605 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241164 S 1 1 0 "" NA18507 nsv512896 6 137480064 137480450 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625541 S 1 1 0 "" 1 dgv2012e1 6 137501221 137615031 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv68,esv187 M 271 0 0 IFNGR1,IL22RA2 NA18991 esv32557 6 137549175 137604042 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99460 S 51 0 1 IFNGR1 22335 esv1157499 6 137562368 137562368 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963323 S 2 1 0 IFNGR1 HuRef nsv886688 6 137568482 137581198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517750 S 6533 0 1 IFNGR1 SP57367 nsv886689 6 137576523 137585624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500273 S 6533 0 1 IFNGR1 SP50530 nsv886690 6 137578276 137585624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506956,nssv1506607 M 6533 2 0 IFNGR1 SP54381,SP54442 esv6616 6 137635098 137635183 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29057 S 1 1 0 "" SJK nsv520297 6 137792921 137793059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688246,nssv662515 M 2026 0 2 "" nsv5491 6 137835885 137867851 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2616 S 9 1 0 OLIG3 NA18555 dgv2013e1 6 137914018 137962674 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4861,esv486 M 271 0 0 "" NA18540 nsv830817 6 137922279 138108785 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445647 S 95 1 0 "" nsv525493 6 137943136 137946040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701624 S 2026 0 1 "" nsv525702 6 137943136 137948441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701862 S 2026 0 1 "" esv259425 6 137944552 137944822 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394240 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv886691 6 137998026 138060132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588475 S 6533 0 1 "" IS38207 nsv516698 6 138000928 138014761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670212,nssv681047 M 2026 0 2 "" nsv510051 6 138031246 138037246 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621292 S 4 0 1 "" NA15510 nsv818459 6 138038815 138053358 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418283 S 112 1 0 "" NA19093 nsv5492 6 138085396 138117964 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10518 S 9 1 0 "" NA18956 nsv830818 6 138153528 138313123 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445649,nssv1445648 M 95 2 0 TNFAIP3 nsv830819 6 138204399 138376753 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445652,nssv1445650 M 95 0 2 TNFAIP3 esv272063 6 138209805 138209890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519264 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11894 nsv5493 6 138212257 138246010 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2734 S 9 1 0 TNFAIP3 NA18555 nsv523826 6 138237759 138239024 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699657 S 2026 0 1 TNFAIP3 esv275167 6 138327415 138340786 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585931 S 1250 0 1 "" nsv508432 6 138338801 138451264 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618799 S 4 0 1 "" NA10860 nsv5494 6 138359388 138404820 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6091 S 9 0 1 "" NA12156 nsv5495 6 138362875 138366348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2735 S 9 1 0 "" NA18555 esv2069832 6 138467523 138467965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770688 S 1 0 1 PERP NA18507 esv2623440 6 138467698 138467788 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258206 S 1 0 1 PERP NA18507 esv275455 6 138500305 138503045 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585315,essv2585982 M 1250 1 1 "" nsv519133 6 138512325 138515946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694070 S 2026 0 1 "" esv275212 6 138517892 138526622 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586032,essv2585497 M 1250 1 1 KIAA1244 esv275052 6 138554469 138558934 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586067,essv2585684 M 1250 1 1 KIAA1244 nsv5496 6 138593365 138638288 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8301 S 9 0 1 KIAA1244 NA12156 nsv5497 6 138595458 138628437 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv586 S 9 1 0 KIAA1244 NA19240 nsv823847 6 138623177 138624495 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436686 S 31 1 0 KIAA1244 NA18542 esv2088282 6 138694946 138695372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682557 S 1 0 1 KIAA1244 NA18507 esv2752090 6 138757930 139068470 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986293,essv6982874,essv6982873,essv6982872,essv6986294 M 771 1 0 FLJ46906,HEBP2,MIR3145,NHSL1 BEC_606 esv2469347 6 138817154 138818608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193947 S 1 0 1 NHSL1 NA18507 esv2399126 6 138818164 138818558 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841606 S 1 0 1 NHSL1 NA18507 nsv5499 6 138835786 138880763 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8302 S 9 0 1 NHSL1 NA12156 esv1934223 6 138863353 138863807 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948688 S 1 0 1 NHSL1 NA18507 esv2096132 6 138989251 138989947 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607699 S 1 0 1 "" NA18507 nsv5500 6 139150613 139183583 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2617 S 9 1 0 CCDC28A,ECT2L NA18555 esv7585 6 139152387 139153023 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30026 S 1 0 0 CCDC28A SJK esv268300 6 139336396 139336735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575811,essv2541039,essv2536372,essv2570480,essv2521641,essv2525516,essv2529270,essv2564675,essv2561979,essv2537317,essv2528270,essv2551694,essv2549979,essv2537002,essv2534157,essv2527003,essv2574758,essv2530298,essv2560357,essv2549871,essv2538115,essv2548645,essv2563466 M 157 23 0 Samples from several populations that are part of the HapMap project. REPS1 NA07000,NA07037,NA10847,NA11830,NA11831,NA11920,NA12044,NA12144,NA12156,NA12749,NA12751,NA12874,NA12878,NA12891,NA18504,NA18511,NA18517,NA18916,NA19005,NA19138,NA19141,NA19190,NA19225 esv272696 6 139336398 139336562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583220,essv2583994,essv2584544,essv2583458 M 7 4 0 Samples from several populations that are part of the HapMap project. REPS1 NA12892,NA19238,NA19239,NA19240 nsv510052 6 139387843 139393843 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622127,nssv618246 M 4 0 2 C6orf115 CHM,NA10860 esv275251 6 139462688 139466804 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585796 S 1250 0 1 "" nsv507365 6 139470148 139476148 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622992,nssv620359 M 4 2 0 "" NA15510,NA18994 esv33136 6 139483194 139488013 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100095 S 51 0 1 "" 22086 esv32697 6 139498246 139499174 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94042 S 51 1 0 HECA 21802 esv268832 6 139546658 139546997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498558,essv2501529,essv2510872,essv2509582,essv2498848 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA19093,NA19116,NA19129,NA19138 esv2609169 6 139550809 139552169 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342740 S 1 0 1 "" NA18507 esv2145875 6 139551418 139551848 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4773725 S 1 0 1 "" NA18507 nsv524431 6 139564988 139579904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700358 S 2026 0 1 "" nsv508433 6 139638071 139652684 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618800 S 4 0 1 TXLNB NA10860 nsv5501 6 139643148 139670156 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv587 S 9 0 1 TXLNB NA19240 nsv511917 6 139643771 139649418 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624453 S 1 0 1 TXLNB 1 esv33633 6 139644130 139648760 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101588,essv100789,essv96820,essv95193,essv98232,essv94082,essv101400,essv95717,essv95752,essv97408,essv95858,essv96228,essv93559,essv95024,essv97695,essv100136,essv100625,essv96285 M 51 0 17 TXLNB 21603,21656,21659,21721,21772,21802,21805,21841,21879,21911,22007,22128,22231,22278,22286,22298,22371 esv2223307 6 139644177 139644834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811672 S 1 0 1 TXLNB NA18507 nsv821147 6 139644220 139650085 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420607 S 1 0 1 TXLNB NA10851 nsv823848 6 139644220 139650085 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425820,nssv1429872,nssv1423461,nssv1440496,nssv1440405,nssv1424265,nssv1441120,nssv1429127,nssv1426733 M 31 0 9 TXLNB AK12,AK14,AK4,AK6,NA18547,NA18564,NA18582,NA18969,NA18999 esv29795 6 139644298 139649450 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17981 S 451 24 0 TXLNB NA07037,NA11894,NA11995,NA12006,NA12044,NA12156,NA12239,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19129,NA19147,NA19225,NA19257 nsv819805 6 139644789 139651291 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419777 S 2 1 0 TXLNB AK1 nsv511325 6 139645107 139648829 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625511 S 1 0 1 TXLNB 1 nsv499774 6 139645135 139649411 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586008 S 9 0 1 TXLNB nsv823849 6 139645217 139648811 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438889,nssv1435143 M 31 2 0 TXLNB NA18942,NA18973 esv2421923 6 139645437 139648829 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5058529,essv5084862,essv5101657,essv5016275,essv5029012,essv5087211,essv5134692,essv5084014,essv5021021,essv5099536,essv5035138,essv5053303,essv5068209,essv5120985,essv5057627,essv5123103,essv5160663,essv5010193,essv5055931,essv5017259,essv5125024,essv5119839,essv5028708,essv5124874,essv5100532,essv5114685,essv5152247,essv5152481,essv5115156,essv5105499,essv5045474,essv5046312,essv5022352,essv5007462,essv5079973,essv5099969,essv5081376,essv5068076,essv5130322,essv5155628,essv5061951,essv5030095,essv5006097,essv5077412,essv5152124,essv5088232,essv5061231,essv5139793,essv5068607,essv5020551,essv5105037,essv5116822,essv5018231,essv5091016,essv5151804,essv5096868,essv5107197,essv5089935,essv5108532,essv5139004,essv5074060,essv5138105,essv5100928,essv5047488,essv5161136,essv5060525,essv5060606,essv5091491,essv5025996,essv5105754,essv5054105,essv5150628,essv5012131,essv5037982,essv5158275,essv5067503,essv5116781,essv5068239,essv5147517,essv5096473,essv5071458,essv5139436,essv5078348,essv5020206,essv5017580,essv5081356,essv5100926,essv5035534,essv5082520,essv5129285,essv5010204,essv5092296,essv5005674,essv5106580,essv5107516,essv5107488,essv5125314,essv5058196,essv5038104,essv5141586,essv5018376,essv5066162,essv5158694,essv5130377,essv5088548,essv5040932,essv5078115,essv5045486,essv5102455,essv5127051,essv5154265,essv5083649,essv5024306,essv5044655,essv5107782,essv5155681,essv5031515,essv5041399,essv5071963,essv5088393,essv5107807,essv5073825,essv5078424,essv5006482,essv5081441,essv5036009,essv5019554,essv5119627,essv5129655,essv5129769,essv5030017,essv5136305,essv5141929,essv5122709,essv5133923,essv5139273,essv5068751,essv5105829,essv5128490,essv5032786,essv5021187,essv5084905,essv5080686,essv5042983,essv5021653,essv5079695,essv5136013,essv5018364,essv5044803,essv5025083,essv5111331,essv5103337,essv5073375,essv5113738,essv5058026,essv5039805,essv5137745,essv5015365,essv5061956,essv5079476,essv5135171,essv5005796,essv5046960,essv5130200,essv5079866,essv5133945,essv5101993,essv5133735,essv5007218,essv5124455,essv5138579,essv5027952,essv5080103,essv5090410,essv5020190,essv5055731,essv5015562,essv5027574,essv5147347,essv5087243,essv5105570,essv5075625,essv5146147,essv5102634,essv5012865,essv5067657,essv5031454,essv5106603,essv5100177,essv5133683,essv5059279,essv5011733,essv5093063,essv5103242,essv5133218,essv5091969,essv5117027,essv5011135,essv5109958,essv5045571,essv5096392,essv5016272,essv5086268,essv5038606,essv5086147,essv5032477,essv5067712,essv5086563,essv5120039,essv5105542,essv5017302,essv5097543,essv5155715,essv5020097,essv5031282,essv5080214,essv5097119,essv5071023,essv5110444,essv5010969,essv5061019,essv5101222,essv5123685,essv5130354,essv5148737,essv5101635,essv5029996,essv5034894,essv5149569,essv5142842,essv5141532,essv5152629,essv5105062,essv5009929,essv5080713,essv5007956,essv5052233,essv5087363,essv5142808,essv5099244,essv5062014,essv5157341,essv5154021,essv5051800,essv5064211,essv5147570,essv5023577,essv5157917,essv5085891,essv5124323,essv5078677,essv5017776,essv5105598,essv5032592,essv5018757,essv5112049,essv5124413,essv5089005,essv5157230,essv5033893,essv5022727,essv5006060,essv5117211,essv5010187,essv5117748,essv5088763,essv5023682,essv5100808,essv5033195,essv5124157,essv5013294,essv5018829,essv5084815,essv5054108,essv5148807,essv5092844,essv5028328,essv5076692,essv5132787,essv5143127,essv5070123,essv5118533,essv5028940,essv5032736,essv5032040,essv5138034,essv5029781,essv5074348,essv5069994,essv5060883,essv5119271,essv5090233,essv5058396,essv5153833,essv5160395,essv5068374,essv5011831,essv5132189,essv5122698,essv5069335,essv5086953,essv5116765,essv5120373,essv5152167,essv5049788,essv5135615,essv5117319,essv5117372,essv5098224,essv5133732,essv5097987,essv5033308,essv5116772,essv5138426,essv5074117,essv5049356,essv5061440,essv5143853,essv5064656,essv5110557,essv5041969,essv5055022,essv5002459,essv5113755,essv5078298,essv5091438,essv5084945,essv5094923,essv5049165,essv5010373,essv5085195,essv5161093,essv5155335,essv5074867,essv5058920,essv5143817,essv5032439,essv5011526,essv5063241,essv5116199,essv5134750,essv5129470,essv5031047,essv5044805,essv5091711,essv5072716,essv5103397,essv5003186,essv5013857,essv5090303,essv5151109,essv5043397,essv5098487,essv5050761,essv5020884,essv5143578,essv5143819,essv5076813,essv5008879,essv5121992,essv5094088,essv5155649,essv5022757,essv5124795,essv5077703,essv5059499,essv5079265,essv5144402,essv5072219,essv5084460,essv5090250 M 1184 0 371 TXLNB NA06985,NA06986,NA06997,NA07031,NA07045,NA07055,NA07056,NA07435,NA10836,NA10838,NA10840,NA10843,NA10845,NA10863,NA10864,NA11843,NA11893,NA11917,NA11919,NA11920,NA11930,NA11931,NA11993,NA12056,NA12057,NA12144,NA12155,NA12234,NA12249,NA12275,NA12282,NA12286,NA12287,NA12336,NA12342,NA12375,NA12376,NA12386,NA12399,NA12400,NA12489,NA12707,NA12708,NA12716,NA12739,NA12749,NA12777,NA12812,NA12813,NA12842,NA12890,NA17974,NA17976,NA17987,NA17988,NA17993,NA17995,NA18106,NA18128,NA18129,NA18132,NA18133,NA18139,NA18141,NA18147,NA18153,NA18154,NA18155,NA18157,NA18158,NA18484,NA18488,NA18500,NA18501,NA18503,NA18504,NA18518,NA18519,NA18543,NA18546,NA18557,NA18558,NA18559,NA18561,NA18564,NA18579,NA18582,NA18593,NA18605,NA18612,NA18613,NA18614,NA18624,NA18630,NA18635,NA18639,NA18643,NA18689,NA18696,NA18853,NA18854,NA18861,NA18863,NA18867,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18933,NA18935,NA18946,NA18948,NA18953,NA18954,NA18956,NA18961,NA18966,NA18969,NA18976,NA18978,NA18980,NA18981,NA18991,NA18999,NA19001,NA19035,NA19038,NA19046,NA19057,NA19058,NA19059,NA19066,NA19068,NA19078,NA19080,NA19087,NA19107,NA19108,NA19109,NA19114,NA19131,NA19137,NA19139,NA19143,NA19144,NA19149,NA19151,NA19172,NA19175,NA19178,NA19179,NA19190,NA19191,NA19206,NA19208,NA19238,NA19240,NA19256,NA19307,NA19310,NA19311,NA19315,NA19319,NA19327,NA19350,NA19376,NA19383,NA19384,NA19404,NA19428,NA19429,NA19430,NA19431,NA19438,NA19446,NA19449,NA19452,NA19462,NA19467,NA19471,NA19472,NA19473,NA19651,NA19652,NA19653,NA19654,NA19656,NA19658,NA19676,NA19677,NA19684,NA19686,NA19700,NA19704,NA19705,NA19747,NA19755,NA19771,NA19773,NA19775,NA19782,NA19784,NA19789,NA19790,NA19818,NA19901,NA19909,NA19982,NA20126,NA20128,NA20281,NA20284,NA20290,NA20291,NA20292,NA20322,NA20335,NA20336,NA20337,NA20343,NA20349,NA20350,NA20363,NA20364,NA20504,NA20510,NA20527,NA20535,NA20539,NA20541,NA20581,NA20752,NA20756,NA20758,NA20768,NA20769,NA20770,NA20772,NA20774,NA20785,NA20799,NA20800,NA20808,NA20810,NA20811,NA20815,NA20818,NA20828,NA20845,NA20849,NA20852,NA20856,NA20859,NA20861,NA20862,NA20866,NA20872,NA20876,NA20877,NA20881,NA20883,NA20887,NA20888,NA20891,NA20892,NA20896,NA20897,NA20898,NA20899,NA20906,NA20909,NA21088,NA21089,NA21092,NA21097,NA21099,NA21100,NA21103,NA21107,NA21108,NA21109,NA21111,NA21113,NA21137,NA21141,NA21143,NA21144,NA21295,NA21297,NA21300,NA21303,NA21307,NA21308,NA21309,NA21312,NA21313,NA21314,NA21320,NA21355,NA21356,NA21357,NA21359,NA21361,NA21362,NA21363,NA21365,NA21366,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21388,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21408,NA21414,NA21415,NA21417,NA21418,NA21424,NA21425,NA21436,NA21457,NA21476,NA21486,NA21491,NA21510,NA21512,NA21517,NA21520,NA21523,NA21524,NA21525,NA21526,NA21528,NA21575,NA21576,NA21578,NA21580,NA21582,NA21597,NA21600,NA21611,NA21613,NA21616,NA21617,NA21632,NA21634,NA21636,NA21647,NA21648,NA21683,NA21693,NA21716,NA21717,NA21718,NA21722,NA21723,NA21768 nsv514391 6 139645504 139648560 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627844 S 1414 0 1 TXLNB nsv823850 6 139686343 139687599 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423462 S 31 0 1 "" NA18999 nsv519810 6 139784481 139785500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697063 S 2026 0 1 "" nsv518835 6 139811760 139842585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696288 S 2026 0 1 LOC645434 esv269018 6 139883847 139884259 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512533,essv2505898 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18861 nsv516840 6 140002526 140095397 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681808,nssv654381,nssv654872 M 2026 3 0 "" nsv823851 6 140061230 140066114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433708 S 31 0 1 "" NA18526 nsv464065 6 140069529 140127566 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540054 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01043 nsv830820 6 140100972 140296985 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445653 S 95 0 1 LOC100132735 nsv886692 6 140153343 140196783 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505181 S 6533 1 0 LOC100132735 SP53302 nsv5502 6 140280660 140313682 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3473 S 9 1 0 "" NA12878 esv1450097 6 140310514 140310514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821338 S 2 1 0 "" HuRef esv272823 6 140311072 140311211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580305,essv2579831,essv2578900 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19239 esv270724 6 140311091 140311383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565868,essv2541024,essv2521447,essv2568373,essv2523430,essv2576676,essv2547548,essv2554914,essv2530602,essv2537292,essv2546884,essv2544982,essv2562960,essv2523669,essv2552843,essv2542687,essv2524547,essv2564838,essv2534942,essv2561182,essv2549461,essv2519597,essv2559826,essv2522013,essv2530983,essv2532757,essv2567909,essv2528866,essv2567342,essv2541861,essv2572216,essv2542036,essv2568991,essv2562182,essv2578477,essv2533568,essv2555484,essv2567285,essv2566523,essv2530063,essv2534476,essv2522412,essv2543073,essv2576927,essv2571964,essv2533326,essv2554569,essv2548002,essv2563213 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA10847,NA11829,NA11831,NA11894,NA11995,NA12004,NA12154,NA12717,NA12872,NA12873,NA12878,NA12892,NA18526,NA18532,NA18537,NA18542,NA18550,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18609,NA18856,NA18861,NA18909,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18959,NA18960,NA18965,NA18970,NA18973 esv259820 6 140332492 140332798 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398457,essv2399120,essv2401122,essv2399453,essv2394419,essv2397151,essv2397730 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11920,NA11931,NA18858,NA18943,NA18951,NA18956 nsv527772 6 140373789 140379136 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704261 S 2026 0 1 "" nsv823852 6 140427052 140428079 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436687 S 31 0 1 "" NA18542 nsv823854 6 140427052 140433936 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441121 S 31 0 1 "" NA18969 nsv514392 6 140429424 140431952 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627845 S 1414 0 1 "" nsv442010 6 140429449 140432237 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2504654 6 140432131 140433609 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309831 S 1 0 1 "" NA18507 esv271061 6 140459497 140459838 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575850,essv2526089,essv2545301,essv2521478,essv2535284,essv2520700,essv2577658,essv2553726,essv2559465,essv2557292,essv2557210,essv2532085,essv2569323,essv2549996,essv2527253,essv2541145,essv2540285,essv2519661,essv2541523,essv2543784,essv2527798,essv2562155,essv2573263,essv2567171,essv2574043,essv2534204,essv2526354,essv2560586,essv2560932,essv2572706,essv2568727,essv2546027,essv2574226,essv2551521,essv2537994,essv2557995 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10851,NA11830,NA11918,NA12003,NA12144,NA12249,NA12716,NA12761,NA12763,NA12776,NA18499,NA18501,NA18505,NA18508,NA18511,NA18522,NA18545,NA18552,NA18566,NA18592,NA18870,NA18907,NA18909,NA18942,NA18947,NA18951,NA18959,NA19114,NA19116,NA19137,NA19143,NA19147,NA19239,NA19240,NA19257 esv272346 6 140459498 140459839 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582138,essv2582271 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv886693 6 140485750 140620187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503720 S 6533 0 1 MIR3668 SP52095 nsv5503 6 140553053 140597876 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8304 S 9 0 1 MIR3668 NA12156 nsv5504 6 140641733 140674699 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3475 S 9 1 0 "" NA12878 nsv510053 6 140740208 140746208 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618247 S 4 0 1 "" CHM nsv886694 6 140743116 141043113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553536 S 6533 0 1 "" MS20146 nsv524995 6 140775548 140843190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701026 S 2026 0 1 "" esv7443 6 140789228 140789292 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29884 S 1 1 0 "" SJK nsv519374 6 140822296 140891395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696819 S 2026 0 1 "" nsv823855 6 140833507 140835551 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438209 S 31 0 1 "" NA18951 nsv521860 6 140891395 140953082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694634 S 2026 0 1 "" nsv521710 6 140917720 141009985 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698336 S 2026 0 1 "" nsv886696 6 140920424 141087049 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555523,nssv1572480,nssv1537075,nssv1574350,nssv1566645 M 6533 1 4 MIR4465 IS30835,IS33073,IS33545,MS13095,MS21402 dgv6995n71 6 140920424 141120817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886708,nsv886704,nsv886695,nsv886700,nsv886703,nsv886702 M 6533 0 32 MIR4465 IS30562,IS30597,IS30616,IS30899,IS31041,IS31044,IS31137,IS31259,IS31373,IS31554,IS31652,IS31703,IS31728,IS31837,IS32015,IS33675,IS35083,IS36170,IS36219,IS36527,IS39100,IS39250,IS39464,IS39759,IS39944,IS41068,MS10699,MS11306,MS11467,MS13426,MS17611,MS18978 dgv6996n71 6 140920424 141342769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886711,nsv886705,nsv886706,nsv886698,nsv886707,nsv886697,nsv886699,nsv886710 M 6533 0 8 MIR4465 IS31875,IS35181,IS35572,IS35771,IS39119,IS41113,MS15199,MS17114 nsv830821 6 140932648 141101913 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445654 S 95 0 1 MIR4465 dgv6997n71 6 140944512 141089265 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886709,nsv886712,nsv886701 M 6533 0 3 MIR4465 IS32615,SP50144,SP54792 esv267519 6 140973704 140973827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509765,essv2504609 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA19099 esv2640398 6 140993730 140995385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351527 S 1 0 1 "" NA18507 esv1963644 6 140994398 140995076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776377 S 1 0 1 "" NA18507 esv4259 6 140994517 140994945 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26700 S 1 0 1 Single Asian sample YH "" YH esv1005414 6 140994595 140994882 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570997 S 3 0 1 "" HuRef nsv349777 6 140994597 140994884 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368355 M 24 "" esv33208 6 140999039 141099048 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95990 S 51 0 1 MIR4465 22127 dgv6998n71 6 141009985 141066640 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886713,nsv886717 M 6533 0 2 MIR4465 SP52708,SP56120 nsv886714 6 141009985 141087049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514431 S 6533 0 1 MIR4465 SP56004 dgv6999n71 6 141009985 141250891 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886716,nsv886715 M 6533 0 5 MIR4465 IS31166,IS39716,IS40067,MS10737,MS25617 esv2614350 6 141043384 141047704 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246446 S 1 0 1 MIR4465 NA18507 esv1075970 6 141044167 141044167 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185782 S 2 1 0 "" HuRef nsv886718 6 141045617 141191241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589020 S 6533 0 1 MIR4465 IS38281 esv1359837 6 141046034 141046034 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318449 S 2 1 0 "" HuRef esv2552399 6 141074294 141077312 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380864 S 1 0 1 "" NA18507 nsv511322 6 141087654 141100320 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625476 S 1 0 1 "" 1 nsv510054 6 141089313 141095313 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621293 S 4 0 1 "" NA15510 esv29850 6 141096813 141097430 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14121 S 451 4 1 "" NA11894,NA12749,NA18505,NA18517,NA18523 nsv821004 6 141096813 141097430 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420608 S 1 0 1 "" NA10851 nsv527467 6 141100320 141102099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703910 S 2026 0 1 "" nsv523842 6 141102099 141103435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699675 S 2026 0 1 "" nsv518624 6 141174696 141183650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696072 S 2026 0 1 "" esv268434 6 141175727 141176056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558100,essv2565876,essv2540697,essv2546410,essv2526202,essv2556555,essv2568102,essv2545444,essv2523273,essv2531820,essv2577557,essv2576850,essv2550551,essv2525497,essv2535377,essv2553920,essv2544323,essv2520458,essv2547382,essv2529128,essv2564334,essv2577851,essv2553777,essv2559472,essv2565428,essv2576224,essv2520203,essv2537279,essv2528354,essv2546768,essv2520832,essv2552679,essv2569805,essv2561727,essv2544580,essv2562953,essv2523756,essv2552986,essv2538350,essv2543029,essv2540474,essv2534778,essv2561164,essv2539687,essv2549569,essv2519819,essv2559775,essv2522011,essv2532709,essv2567949,essv2528888,essv2567420,essv2541567,essv2569975,essv2563915,essv2553171,essv2535668,essv2572288,essv2550916,essv2527770,essv2562323,essv2578431,essv2573208,essv2555213,essv2533436,essv2555546,essv2567289,essv2573882,essv2527449,essv2555809,essv2522340,essv2543158,essv2573291,essv2576973,essv2571908,essv2526733,essv2529605,essv2526389,essv2568702,essv2549624,essv2535905,essv2537721,essv2533059,essv2554663,essv2548034,essv2563553 M 157 86 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11831,NA11881,NA11918,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12878,NA12891,NA12892,NA18498,NA18502,NA18520,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18858,NA18907,NA18909,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18951,NA18952,NA18956,NA18960,NA18965,NA18969,NA18970,NA18973,NA19005,NA19093,NA19114,NA19147,NA19225 esv272949 6 141175727 141176056 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584849,essv2583872 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1508038 6 141175760 141175760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855581 S 2 1 0 "" HuRef nsv886719 6 141184346 141252704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540210 S 6533 0 1 "" MS14737 nsv349362 6 141325666 141328231 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367940 M 24 "" esv268472 6 141340873 141341144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496321,essv2504615 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA19099 esv2331816 6 141367212 141367937 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913964 S 1 0 1 "" NA18507 esv4451 6 141367352 141367889 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26892 S 1 0 1 Single Asian sample YH "" YH esv6613 6 141367407 141367735 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29054 S 1 0 1 "" SJK dgv7000n71 6 141370558 141806612 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886720,nsv886721,nsv886726,nsv886725 M 6533 0 4 "" IS31137,IS31554,IS35181,IS40067 esv1171006 6 141377690 141377690 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126907 S 2 1 0 "" HuRef nsv886722 6 141387342 141499055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513943 S 6533 0 1 "" SP55878 esv23446 6 141419537 141421959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13457 S 451 0 3 "" NA18511,NA19108,NA19240 nsv830822 6 141429496 141584691 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445655 S 95 1 0 "" dgv7001n71 6 141441505 141499055 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886724,nsv886723 M 6533 0 3 "" SP50137,SP52094,SP56185 esv2594382 6 141456247 141457238 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204518 S 1 1 0 "" NA18507 esv269910 6 141456559 141456644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515370,essv2519078 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA19141 esv2553915 6 141486954 141488459 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315787 S 1 0 1 "" NA18507 nsv5505 6 141519418 141552823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8305 S 9 1 0 "" NA12156 esv2473852 6 141580148 141581749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220639 S 1 0 1 "" NA18507 nsv511918 6 141589253 141591744 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624454 S 1 0 1 "" 1 esv7376 6 141590314 141591722 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29817 S 1 0 1 "" SJK esv24354 6 141590326 141591658 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15821,esv13652 M 451 35 0 "" NA06985,NA07045,NA11894,NA11993,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821463 6 141590326 141591658 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420609 S 1 0 1 "" NA10851 nsv514393 6 141590992 141591680 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627846 S 1414 0 1 "" nsv886727 6 141652626 141835240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575621 S 6533 0 1 "" IS33786 esv1153510 6 141735338 141735338 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948896 S 2 1 0 "" HuRef esv1516316 6 141735420 141735420 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592407 S 2 1 0 "" HuRef nsv507366 6 141742349 141748349 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617725,nssv622993,nssv620360,nssv621863 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv268663 6 141812545 141812889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557867,essv2565564,essv2575883,essv2540741,essv2571678,essv2546394,essv2521381,essv2525930,essv2542594,essv2536581,essv2523009,essv2543840,essv2556793,essv2568410,essv2523204,essv2531831,essv2577283,essv2570753,essv2548243,essv2576574,essv2525329,essv2535025,essv2520725,essv2529290,essv2558424,essv2564695,essv2577994,essv2520011,essv2562030,essv2537378,essv2528418,essv2546938,essv2552375,essv2569229,essv2561415,essv2542951,essv2534520,essv2549274,essv2528925,essv2567600,essv2541751,essv2563739,essv2559018,essv2541996,essv2539327,essv2531330,essv2529773,essv2575347,essv2538857,essv2524125,essv2568480,essv2560348,essv2571334,essv2545854,essv2551487,essv2536072,essv2538040,essv2549038,essv2533418,essv2554636,essv2547939,essv2525030 M 157 62 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12156,NA12249,NA12716,NA12749,NA12750,NA12751,NA12761,NA12815,NA12874,NA12878,NA12891,NA12892,NA18502,NA18508,NA18523,NA18550,NA18561,NA18564,NA18579,NA18582,NA18592,NA18603,NA18638,NA18856,NA18912,NA18961,NA19093,NA19102,NA19108,NA19129,NA19147,NA19190,NA19238,NA19239,NA19257 esv274532 6 141812545 141812889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582218,essv2582486,essv2582816 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv24364 6 141816361 141823350 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13495 S 451 0 1 "" NA19108 nsv5506 6 142016011 142050192 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2736 S 9 1 0 "" NA18555 esv2517554 6 142067542 142069001 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193756 S 1 0 1 "" NA18507 nsv5507 6 142072518 142096379 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9895 S 9 0 1 "" NA18507 nsv523281 6 142083552 142092249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699018 S 2026 0 1 "" esv2612979 6 142084305 142092971 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279484 S 1 0 1 "" NA18507 esv2449129 6 142084502 142093065 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379273 S 1 0 1 "" NA18507 esv2135787 6 142084829 142092609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814264 S 1 0 1 "" NA18507 esv27967 6 142085081 142092231 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14672 S 451 0 2 "" NA18858,NA19108 nsv514394 6 142087248 142091984 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627849 S 1414 0 1 "" nsv515599 6 142088990 142092249 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685385,nssv685057,nssv674420,nssv669760,nssv677928,nssv678853,nssv673801,nssv664046 M 2026 0 8 "" dgv396n21 6 142115717 142171702 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523425,nsv525384 M 2026 0 2 "" esv29823 6 142152284 142156624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12451 S 451 0 2 "" NA18907,NA19225 nsv830823 6 142153113 142347110 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445656 S 95 0 1 "" esv2425988 6 142158856 142160354 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184121 S 1 0 1 "" NA18507 nsv464066 6 142171702 142278271 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540055 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01251 nsv886728 6 142171702 142287674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520977,nssv1528515,nssv1529167 M 6533 0 3 "" SP51356,SP81260,SP81464 nsv7386 6 142208297 142295063 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4946,nssv4945 M 9 0 0 "" NA19129 nsv5508 6 142223441 142254094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10519 S 9 1 0 "" NA18956 nsv499602 6 142229155 142261543 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585559 S 9 0 0 "" dgv7002n71 6 142234418 142341038 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886730,nsv886729 M 6533 0 3 "" IS31401,IS33076,IS41782 nsv464067 6 142255786 142324891 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540056 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00868 nsv464068 6 142304894 142357870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540057 S 1557 0 1 "" 1780854465_A nsv886731 6 142328836 142406321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591384 S 6533 0 1 "" IS38743 dgv7003n71 6 142332031 142577742 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886732,nsv886733 M 6533 2 0 NMBR,VTA1 MS25756,SP51398 nsv522300 6 142342920 142358365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695081 S 2026 0 1 "" nsv464069 6 142364149 142449434 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540058 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NMBR HGDP01380 esv1416116 6 142379585 142379711 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842859 S 2 0 1 "" HuRef dgv7004n71 6 142389304 142565558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886734,nsv886736 M 6533 0 2 NMBR,VTA1 IS41848,MS20440 nsv830824 6 142402800 142586622 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445657 S 95 1 0 NMBR,VTA1 nsv886735 6 142406864 142513987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601218 S 6533 0 1 NMBR,VTA1 IS41984 nsv524881 6 142418144 142431075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700887 S 2026 0 1 "" nsv5510 6 142479039 142512815 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3476,nssv8306 M 9 2 0 VTA1 NA12156,NA12878 nsv509154 6 142490797 142505979 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618057 S 4 1 0 "" CHM esv2574651 6 142550695 142552089 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212059 S 1 0 1 VTA1 NA18507 esv2065068 6 142567296 142567723 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981864 S 1 0 1 VTA1 NA18507 nsv5511 6 142591725 142636653 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8307 S 9 0 1 "" NA12156 nsv830825 6 142626935 142794268 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445659,nssv1445658 M 95 2 0 GPR126 esv275340 6 142662098 142666261 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586054,essv2585440 M 1250 1 1 GPR126 esv1241631 6 142680934 142680934 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328598 S 2 1 0 GPR126 HuRef esv1032223 6 142680973 142680973 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239452 S 2 1 0 GPR126 HuRef esv275529 6 142842019 142846171 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586124 S 1250 0 1 "" nsv830827 6 142882427 143056698 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445660 S 95 1 0 LOC153910 esv2517290 6 142883529 142884987 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350795 S 1 0 1 "" NA18507 esv6628 6 142891980 142892064 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29069 S 1 1 0 LOC153910 SJK nsv520479 6 142910792 142949839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697444 S 2026 0 1 LOC153910 esv9512 6 142980282 142980384 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31953 S 1 1 0 LOC153910 SJK nsv830828 6 143011827 143158210 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445664,nssv1445661,nssv1445663 M 95 3 0 HIVEP2 nsv830829 6 143100101 143259770 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445665 S 95 0 1 HIVEP2 nsv520992 6 143160408 143162052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690167,nssv680360,nssv679446,nssv686609 M 2026 0 4 HIVEP2 esv2130804 6 143202950 143203397 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945540 S 1 0 1 HIVEP2 NA18507 esv6993 6 143264356 143264432 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29434 S 1 1 0 HIVEP2 SJK esv5938 6 143280182 143280255 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28379 S 1 1 0 HIVEP2 SJK nsv819036 6 143291787 143299036 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419813 S 2 0 1 HIVEP2 AK1 esv1178400 6 143413716 143414226 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724239 S 2 0 1 "" HuRef esv275228 6 143581526 143591614 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585992,essv2585626 M 1250 1 1 AIG1 esv29171 6 143657612 143660946 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16462 S 451 0 1 AIG1 NA19108 dgv2014e1 6 143861702 143866797 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv904,essv14012 M 271 0 0 FUCA2 NA19222 esv29709 6 143911071 143914070 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14621 S 451 0 1 "" NA12006 nsv442011 6 143911563 143914293 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv7972 6 143946997 143953480 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16881,nssv14507,nssv14302 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18563,NA18860,NA18942 dgv2015e1 6 143958314 144121669 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv819,esv241 M 271 0 0 PHACTR2 NA18973 nsv5512 6 143965930 143997606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2618 S 9 1 0 PHACTR2 NA18555 esv268521 6 143993040 143993362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565754,essv2575834,essv2540989,essv2571571,essv2546341,essv2521299,essv2522822,essv2544129,essv2570802,essv2556480,essv2568095,essv2545612,essv2523156,essv2570553,essv2548180,essv2521598,essv2576860,essv2550738,essv2525248,essv2535469,essv2554265,essv2544333,essv2552042,essv2520527,essv2547157,essv2558236,essv2578104,essv2553629,essv2576142,essv2519997,essv2554968,essv2562042,essv2537336,essv2528346,essv2546867,essv2540069,essv2552649,essv2532259,essv2578559,essv2561443,essv2562928,essv2540563,essv2567796,essv2563820,essv2553269,essv2542174,essv2562508,essv2534072,essv2578180,essv2555204,essv2555554,essv2567143,essv2566603,essv2557711,essv2522419,essv2572162,essv2529666,essv2524099,essv2574675,essv2572852,essv2568431,essv2571287,essv2535932,essv2538005,essv2549006,essv2533237,essv2554777,essv2547651,essv2524976,essv2563121,essv2558059 M 157 71 0 Samples from several populations that are part of the HapMap project. PHACTR2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12814,NA12815,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18502,NA18505,NA18510,NA18523,NA18532,NA18552,NA18577,NA18603,NA18605,NA18856,NA18909,NA18916,NA18940,NA18943,NA18945,NA18947,NA18948,NA18953,NA18960,NA18973,NA19093,NA19129,NA19138,NA19143,NA19147,NA19238 esv273892 6 143993043 143993363 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582167,essv2582589,essv2583207,essv2583928,essv2584677 M 7 5 0 Samples from several populations that are part of the HapMap project. PHACTR2 NA12878,NA12891,NA12892,NA19238,NA19239 nsv517253 6 143995365 144016850 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704753,nssv654124,nssv703178,nssv672145 M 2026 1 3 PHACTR2 nsv7973 6 143997938 144001717 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14495,nssv14537,nssv14332 M 31 3 0 Samples from several populations that are part of the HapMap project. PHACTR2 NA10847,NA18563,NA18942 esv33992 6 143999470 144008329 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97334,essv100082,essv100326 M 51 0 3 PHACTR2 21879,22086,22300 esv33301 6 144011485 144011529 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100831 S 51 1 0 PHACTR2 21656 esv2355696 6 144039607 144040010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4752860 S 1 0 1 PHACTR2 NA18507 nsv886737 6 144052263 144075685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519548 S 6533 0 1 PHACTR2 SP81085 esv2249743 6 144103979 144104334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4667746 S 1 0 1 PHACTR2 NA18507 nsv5513 6 144109699 144143721 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8308 S 9 0 1 PHACTR2 NA12156 nsv7974 6 144112486 144114786 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13960,nssv14805 M 31 0 2 Samples from several populations that are part of the HapMap project. PHACTR2 NA12802,NA18537 nsv510055 6 144177982 144183982 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621294 S 4 0 1 PHACTR2 NA15510 nsv5514 6 144178569 144214005 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3477 S 9 1 0 LTV1,PHACTR2 NA12878 nsv830830 6 144219635 144422563 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445666 S 95 1 0 C6orf94,HYMAI,LTV1,PLAGL1 nsv5515 6 144228772 144257655 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2737 S 9 1 0 C6orf94 NA18555 esv24458 6 144237012 144241548 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10313,esv14751 M 451 0 3 C6orf94 NA12006,NA12489,NA12776 nsv5516 6 144342014 144387505 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6092 S 9 0 1 HYMAI,PLAGL1 NA12156 nsv510056 6 144344263 144350263 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624016,nssv622128,nssv618248 M 4 0 3 PLAGL1 CHM,NA10860,NA18994 esv268348 6 144380880 144380965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517487 S 157 1 0 Samples from several populations that are part of the HapMap project. PLAGL1 NA11918 nsv5517 6 144393846 144417316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9434 S 9 1 0 PLAGL1 NA18517 nsv886738 6 144429391 144470080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578673 S 6533 0 1 SF3B5 IS34856 nsv522588 6 144476564 144477763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705975 S 2026 0 1 "" esv2426838 6 144494471 144496034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312248 S 1 0 1 "" NA18507 esv1329757 6 144495182 144495354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051883 S 2 0 1 "" HuRef esv6468 6 144499299 144499378 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28909 S 1 1 0 "" SJK nsv507367 6 144523972 144529972 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622994 S 4 1 0 STX11 NA18994 nsv830831 6 144543064 144691202 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445667 S 95 1 0 STX11,UTRN nsv830832 6 144614071 144800716 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445668 S 95 1 0 UTRN esv2422260 6 144616284 144773323 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161565 S 181 0 1 UTRN ND05165 nsv516523 6 144761458 144770025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663087,nssv668858,nssv661698 M 2026 0 3 UTRN nsv527525 6 144761458 144779363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703980 S 2026 0 1 UTRN nsv886739 6 144761458 144838209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598951 S 6533 0 1 UTRN IS40966 nsv510057 6 144876808 144882808 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624017,nssv621295 M 4 0 2 UTRN NA15510,NA18994 nsv830833 6 145043003 145242836 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445670,nssv1445669 M 95 0 2 UTRN nsv5518 6 145091086 145114144 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4947 S 9 1 0 UTRN NA19129 nsv886740 6 145147047 145240952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584169 S 6533 1 0 UTRN IS36887 nsv886741 6 145165019 145207055 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600414 S 6533 0 1 UTRN IS41881 esv7877 6 145169381 145169715 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30318 S 1 0 1 UTRN SJK nsv464070 6 145226197 145256645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540059 S 1557 0 1 "" 1798860371_A esv267465 6 145308928 145309013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518487 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv886742 6 145311450 145418596 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584170 S 6533 1 0 "" IS36887 esv25098 6 145322694 145323729 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21012 S 451 0 1 "" NA18508 nsv5519 6 145389224 145401944 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9699 S 9 1 0 "" NA18507 nsv830834 6 145433766 145597987 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445671 S 95 0 1 "" dgv7005n71 6 145475554 145569750 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886743,nsv886744 M 6533 0 2 "" IS34440,MS22146 nsv886745 6 145536179 145595817 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601112 S 6533 0 1 "" IS41971 esv28625 6 145589218 145592858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13638 S 451 0 2 "" NA18505,NA18511 nsv524076 6 145642311 145651643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699944 S 2026 0 1 "" esv27093 6 145747091 145748193 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12054 S 451 0 6 "" NA12776,NA18858,NA19114,NA19147,NA19225,NA19240 esv997539 6 145747144 145748105 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586101 S 3 0 1 "" HuRef esv995575 6 145747160 145748213 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575719 S 3 0 1 "" HuRef esv1315477 6 145747164 145748218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4271697 S 2 0 1 "" HuRef nsv5522 6 145764952 145796608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2619 S 9 1 0 "" NA18555 nsv520619 6 145842608 145849600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678826,nssv673285,nssv675971,nssv695804 M 2026 0 4 "" dgv7006n71 6 145857642 145964470 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886747,nsv886746 M 6533 2 0 "" IS30633,IS39009 esv2061715 6 145860168 145860643 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709380 S 1 0 1 "" NA18507 esv2876 6 145860311 145860624 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25317 S 1 0 1 Single Asian sample YH "" YH esv2602784 6 145860353 145860450 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234865 S 1 0 1 "" NA18507 esv1333447 6 145860355 145860453 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026377 S 2 0 1 "" HuRef nsv886748 6 145877610 145953423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581001 S 6533 0 1 "" IS35486 nsv830835 6 146186841 146329166 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445672,nssv1445674 M 95 0 2 LOC100507557,SHPRH nsv437525 6 146253978 146272147 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467406 S 60 0 1 Samples from several populations that are part of the HapMap project. SHPRH NA19194 nsv830836 6 146465098 146640676 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445675 S 95 1 0 GRM1 nsv527571 6 146662358 146675511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704032 S 2026 0 1 GRM1 esv32685 6 146701212 146701492 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100766,essv99828 M 51 0 2 GRM1 21656,22086 nsv886749 6 146721428 147165392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566354 S 6533 1 0 C6orf103,GRM1,LOC729176,RAB32 IS30667 esv28078 6 146775508 146780843 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21166 S 451 0 1 GRM1 NA12044 esv1113053 6 146818214 146818214 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324386 S 2 1 0 "" HuRef nsv5523 6 146827807 146860175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6093 S 9 1 0 "" NA12156 esv273528 6 146928942 146929156 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581914,essv2582576,essv2582793,essv2584173 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 nsv886750 6 147048538 147107703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546147 S 6533 0 1 C6orf103 MS17114 esv2596411 6 147078187 147079797 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352624 S 1 0 1 C6orf103 NA18507 esv2045633 6 147078932 147079664 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883654 S 1 0 1 C6orf103 NA18507 esv2451551 6 147104146 147105635 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278093 S 1 0 1 C6orf103 NA18507 nsv830838 6 147132438 147316362 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445676 S 95 1 0 C6orf103,LOC729176,LOC729178 esv2159904 6 147150342 147150717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519536 S 1 0 1 C6orf103 NA18507 nsv349025 6 147150448 147150498 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367603 M 24 C6orf103 esv1011004 6 147150495 147150545 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582308 S 3 0 1 C6orf103 HuRef esv2518343 6 147171383 147179697 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320541 S 1 0 1 C6orf103 NA18507 esv2451265 6 147201375 147202958 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201283 S 1 0 1 "" NA18507 nsv442012 6 147252374 147261510 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC729178 esv29555 6 147365705 147376223 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13776 S 451 0 1 LOC729178 NA18909 nsv886751 6 147395785 147532091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532254 S 6533 0 1 LOC729178 MS10737 nsv823856 6 147425953 147434956 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441122 S 31 0 1 LOC729178 NA18969 esv274984 6 147447305 147450661 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585562 S 1250 0 1 LOC729178 nsv522096 6 147466573 147485173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694131 S 2026 0 1 LOC729178 nsv5524 6 147470129 147496064 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9896 S 9 0 1 LOC729178 NA18507 esv2609330 6 147479299 147486636 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291692 S 1 0 1 LOC729178 NA18507 esv2296134 6 147479909 147486309 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841951 S 1 0 1 LOC729178 NA18507 nsv514395 6 147480096 147485648 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627850 S 1414 0 1 LOC729178 esv2422007 6 147480199 147486248 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5018368,essv5143212,essv5156519,essv5084248,essv5071020,essv5038334,essv5076741,essv5048837,essv5083131,essv5034502,essv5124125,essv5007950,essv5076188,essv5043363,essv5078353,essv5154799,essv5083032,essv5040773,essv5070136,essv5030173,essv5104891,essv5119779,essv5137159,essv5036651,essv5131510,essv5008565,essv5156504,essv5021213,essv5138013,essv5089765,essv5074882,essv5019947,essv5152452,essv5025037 M 1184 0 34 LOC729178 NA18520,NA18852,NA18853,NA18854,NA18855,NA18871,NA19038,NA19044,NA19107,NA19113,NA19152,NA19175,NA19179,NA19201,NA19202,NA19213,NA19215,NA19247,NA19375,NA19397,NA19404,NA19431,NA19437,NA19446,NA19457,NA19711,NA19902,NA19909,NA20289,NA20333,NA21308,NA21309,NA21379,NA21457 nsv442013 6 147480203 147486248 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC729178 esv2500763 6 147480476 147486662 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340999 S 1 0 1 LOC729178 NA18507 nsv886752 6 147485173 147771170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567011 S 6533 0 1 LOC729178,STXBP5 IS31041 nsv886753 6 147568201 147721984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505576 S 6533 0 1 STXBP5 SP53687 esv274916 6 147572447 147581263 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585763,essv2585651 M 1250 1 1 STXBP5 nsv470864 6 147580858 147750872 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544734 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations STXBP5 HGDP00864 dgv7007n71 6 147580858 147771170 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886754,nsv886755,nsv886757,nsv886756 M 6533 0 8 STXBP5 IS30432,IS33196,IS35083,IS35145,MS15749,MS17114,MS18978,MS23670 nsv823857 6 147610244 147611443 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421761,nssv1438890 M 31 0 2 STXBP5 NA18973,NA18997 nsv830839 6 147626607 147798957 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445677 S 95 1 0 STXBP5 nsv522406 6 147632715 147677106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694165 S 2026 0 1 STXBP5 esv2548254 6 147642803 147644317 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378469 S 1 0 1 STXBP5 NA18507 nsv886758 6 147686198 147721324 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513944 S 6533 0 1 STXBP5 SP55878 nsv886759 6 147727967 147805960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569722 S 6533 0 1 STXBP5 IS31679 nsv525703 6 147801227 147808928 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701863 S 2026 0 1 "" esv9294 6 147847047 147847148 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31735 S 1 1 0 "" SJK nsv819870 6 147927935 147929382 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419261 S 2 1 0 SAMD5 AK1 esv34044 6 147959933 148403197 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv9175 6 147963240 147963342 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31616 S 1 1 0 "" SJK nsv7975 6 147975390 147980265 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16783 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv28346 6 147975645 147978302 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15020 S 451 0 3 "" NA19225,NA19240,NA19257 nsv437977 6 147977712 147984614 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468881,nssv468882 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10838,NA12004 nsv886760 6 147998041 148029223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567126 S 6533 0 1 "" IS31045 nsv5525 6 148046453 148088923 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9897 S 9 0 1 "" NA18507 nsv830840 6 148047413 148221588 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445678 S 95 1 0 "" nsv520615 6 148169834 148732457 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682936,nssv673245 M 2026 2 0 SASH1 nsv5526 6 148185684 148244950 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10520,nssv6094 M 9 2 0 "" NA12156,NA18956 esv273074 6 148205231 148211345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579084,essv2579612 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv272070 6 148205245 148211347 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571595,essv2521222,essv2542273,essv2556563,essv2568334,essv2577569,essv2521622,essv2550733,essv2534995,essv2544427,essv2520660,essv2558267,essv2553797,essv2554964,essv2546778,essv2520824,essv2532078,essv2536948,essv2527086,essv2550886,essv2568988,essv2533902,essv2574986,essv2574685,essv2568442,essv2546148,essv2536165,essv2537725,essv2524992 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA11840,NA11894,NA11919,NA11994,NA11995,NA12043,NA12144,NA12155,NA12249,NA12414,NA12716,NA12750,NA12763,NA12872,NA12892,NA18498,NA18505,NA18517,NA18522,NA18858,NA18861,NA18916,NA19102,NA19138,NA19147,NA19239 esv1000468 6 148233665 148237727 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564375 S 3 1 0 "" HuRef esv273181 6 148237448 148240158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579827,essv2579378 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239 esv269573 6 148237461 148237546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516998,essv2514961,essv2516583,essv2517546,essv2516221,essv2517298,essv2518894,essv2513596 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11931,NA12812,NA12814,NA12878,NA12891,NA18970,NA19239 nsv349154 6 148272390 148272390 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367732 M 24 "" esv269759 6 148296469 148296741 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508948,essv2501488,essv2506653,essv2499131,essv2493547 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA19093,NA19108,NA19114,NA19137 nsv437978 6 148308446 148313524 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468884,nssv468883 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19092,NA19094 nsv5527 6 148335679 148368119 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6095 S 9 1 0 "" NA12156 esv6832 6 148406126 148406327 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29273 S 1 0 0 "" SJK esv28201 6 148438181 148438864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13887 S 451 0 1 "" NA12749 nsv350122 6 148485671 148488224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368700 M 24 "" esv275117 6 148543625 148551134 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585575,essv2585686 M 1250 1 1 "" esv2218015 6 148547845 148548290 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941612 S 1 0 1 "" NA18507 esv270132 6 148576361 148576694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511442,essv2495266,essv2508010,essv2502877,essv2503423,essv2493467,essv2511547 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11920,NA11992,NA12003,NA12156,NA12716,NA12763 nsv886761 6 148582049 148609155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505125 S 6533 1 0 "" SP53060 nsv830841 6 148643197 148790500 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445681,nssv1445680,nssv1445679 M 95 0 3 SASH1 nsv464071 6 148651093 148692557 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540060 S 1557 1 0 "" 1780862573_A esv1980460 6 148750217 148750682 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734030 S 1 0 1 SASH1 NA18507 esv24659 6 148767267 148769088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10124 S 451 0 1 SASH1 NA18511 esv275352 6 148803296 148809529 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585609 S 1250 0 1 SASH1 esv272509 6 148843754 148844102 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580096,essv2580422,essv2579331 M 7 3 0 Samples from several populations that are part of the HapMap project. SASH1 NA12878,NA12891,NA19239 esv267703 6 148843822 148844128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565845,essv2575963,essv2540832,essv2521229,essv2542411,essv2522782,essv2543963,essv2556525,essv2523167,essv2548608,essv2550829,essv2535056,essv2554155,essv2552237,essv2547555,essv2564346,essv2553880,essv2555027,essv2530869,essv2562075,essv2528456,essv2561491,essv2563091,essv2523667,essv2538374,essv2540433,essv2524368,essv2561163,essv2539734,essv2519778,essv2522158,essv2532837,essv2567701,essv2569932,essv2559127,essv2578121,essv2573104,essv2543370,essv2529784,essv2549854,essv2548761,essv2554593,essv2548031,essv2524893,essv2563283 M 157 45 0 Samples from several populations that are part of the HapMap project. SASH1 NA07037,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11831,NA11894,NA11919,NA11931,NA11992,NA11994,NA12004,NA12045,NA12155,NA12249,NA12287,NA12489,NA12717,NA12751,NA12763,NA12872,NA12873,NA12874,NA12891,NA18523,NA18532,NA18537,NA18547,NA18552,NA18555,NA18562,NA18563,NA18566,NA18571,NA18576,NA18577,NA18593,NA18638,NA18940,NA18942,NA18965,NA19093,NA19225 nsv5528 6 148856348 148862531 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8309 S 9 0 1 SASH1 NA12156 nsv5529 6 148897516 148928607 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8311 S 9 0 1 SASH1 NA12156 nsv348624 6 148931269 148931269 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367202 M 24 "" esv1144546 6 148931320 148931320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4316351 S 2 1 0 "" HuRef nsv5530 6 148995744 149040617 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8312 S 9 0 1 "" NA12156 esv268011 6 149016000 149016085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518564 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv1326298 6 149039895 149039895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826830 S 2 1 0 "" HuRef esv1486065 6 149101583 149101583 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611383 S 2 1 0 "" HuRef esv1622305 6 149101610 149101610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081765 S 2 1 0 "" HuRef esv269601 6 149180981 149181096 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502966,essv2496545,essv2494778,essv2494045,essv2501298,essv2499182,essv2497025 M 157 7 0 Samples from several populations that are part of the HapMap project. UST NA18507,NA18510,NA18519,NA18871,NA19093,NA19114,NA19190 esv27051 6 149239176 149241879 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9882 S 451 0 1 UST NA18511 nsv464074 6 149252783 149283788 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540062 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UST HGDP01272 nsv464075 6 149262987 149283788 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540063 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UST HGDP01278 nsv470865 6 149262987 149283788 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544736,nssv544735 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations UST HGDP01272,HGDP01278 esv2430067 6 149272874 149274391 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179063 S 1 0 1 UST NA18507 esv259907 6 149278579 149278907 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401130,essv2400895 M 144 0 0 Samples from several populations that are part of the HapMap project. UST NA11931,NA11993 esv27730 6 149282715 149283777 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12639 S 451 0 1 UST NA19190 nsv830842 6 149314014 149469033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445682 S 95 1 0 LOC100128176,UST esv992551 6 149397321 149397321 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579793 S 3 1 0 UST HuRef esv2067920 6 149397463 149397915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678904 S 1 0 1 UST NA18507 dgv1066n67 6 149417533 149418388 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823859,nsv823858 M 31 0 2 UST NA18947,NA18972 nsv528588 6 149445162 149451553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705213 S 2026 0 1 "" nsv520134 6 149451553 149451825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661082,nssv685310 M 2026 0 2 "" esv2466757 6 149540019 149541591 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313862 S 1 0 1 "" NA18507 nsv5531 6 149600820 149616287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10521 S 9 1 0 "" NA18956 esv25502 6 149670808 149675011 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18913 S 451 0 1 "" NA19190 esv2451462 6 149674096 149675710 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271523 S 1 0 1 "" NA18507 esv2389269 6 149674269 149674837 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526049 S 1 0 1 "" NA18507 esv988122 6 149674473 149674638 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577260 S 3 0 1 "" HuRef esv1582545 6 149674475 149674641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075514 S 2 0 1 "" HuRef nsv522875 6 149685402 149804230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698530 S 2026 0 1 SUMO4,TAB2 nsv517889 6 149695485 149699811 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695297 S 2026 0 1 TAB2 nsv517606 6 149786325 149797388 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657428,nssv657999,nssv671555,nssv691855,nssv658235,nssv670052,nssv675972,nssv662331,nssv669981,nssv668859,nssv652492,nssv674035,nssv665597,nssv680058 M 2026 0 14 "" nsv470866 6 149786325 149848245 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544737 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZC3H12D HGDP00907 nsv5533 6 149789740 149834765 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8313 S 9 0 1 ZC3H12D NA12156 nsv464076 6 149797388 149840528 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540064 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZC3H12D HGDP00907 esv2276365 6 149806773 149807176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908872 S 1 0 1 "" NA18507 nsv886762 6 149908145 150216200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517410 S 6533 0 1 C6orf72,KATNA1,LATS1,LRP11,NUP43,PCMT1,PPIL4 SP57270 nsv7976 6 149930666 149932803 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15033 S 31 1 0 Samples from several populations that are part of the HapMap project. C6orf72 NA07048 nsv7977 6 149930666 149932803 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15063 S 31 1 0 Samples from several populations that are part of the HapMap project. C6orf72 NA07048 esv2566421 6 149945681 149947259 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252974 S 1 0 1 C6orf72 NA18507 nsv436520 6 150094189 150099247 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466323 S 2 0 1 Samples from several populations that are part of the HapMap project. NUP43 NA18505 esv2600122 6 150124783 150126702 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324182 S 1 0 1 PCMT1 NA18507 esv2259693 6 150125172 150126066 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572870 S 1 0 1 PCMT1 NA18507 nsv349268 6 150125338 150125946 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367846 M 24 PCMT1 nsv886763 6 150132912 150216200 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517347 S 6533 0 1 LRP11,PCMT1 SP57266 nsv886764 6 150156438 150435376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585209 S 6533 0 1 LOC100652739,LRP11,PCMT1,RAET1E,RAET1G,RAET1K,RAET1L,ULBP1,ULBP2,ULBP3 IS37342 nsv517022 6 150186694 150467965 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694489,nssv653630,nssv705168,nssv658419,nssv704657,nssv702769,nssv673246,nssv696319,nssv698324,nssv661372,nssv700224,nssv682937 M 2026 2 10 LOC100652739,LRP11,RAET1E,RAET1G,RAET1K,RAET1L,ULBP1,ULBP2,ULBP3 nsv823860 6 150225175 150227919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432921 S 31 1 0 LOC100652739,LRP11 NA18972 nsv886765 6 150240184 150330415 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591905 S 6533 1 0 LOC100652739,RAET1E,RAET1G,ULBP1,ULBP2 IS39090 nsv819758 6 150252295 150252539 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419448 S 2 0 1 LOC100652739,RAET1E AK1 esv2217053 6 150327814 150328269 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770064 S 1 0 1 ULBP1 NA18507 nsv436711 6 150332463 150367038 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466324 S 2 0 0 Samples from several populations that are part of the HapMap project. RAET1K,ULBP1 NA18505 esv8674 6 150351782 150354113 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31115 S 1 0 0 "" SJK esv7375 6 150365857 150430266 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29816 S 1 0 1 RAET1K,RAET1L,ULBP3 SJK dgv7008n71 6 150377100 150407836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886766,nsv886768 M 6533 0 3 RAET1L SP50107,SP55947,SP81003 nsv886767 6 150377100 150442181 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519929 S 6533 1 0 RAET1L,ULBP3 SP50622 nsv464077 6 150379758 150399705 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540065 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RAET1L HGDP00950 nsv5535 6 150381390 150403352 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8314 S 9 0 1 RAET1L NA12156 nsv886769 6 150387730 150405702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501893 S 6533 0 1 RAET1L SP50997 esv29880 6 150416978 150418278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10574 S 451 0 1 "" NA12749 nsv886770 6 150437117 150541582 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523796 S 6533 1 0 PPP1R14C SP54214 nsv886771 6 150453135 150479442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553830 S 6533 0 1 "" MS20346 esv275199 6 150491644 150492717 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585912 S 1250 0 1 "" nsv5536 6 150513276 150548171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv589 S 9 1 0 PPP1R14C NA19240 esv1003519 6 150527870 150531900 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565126 S 3 1 0 PPP1R14C HuRef esv2434869 6 150530463 150531386 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391087 S 1 1 0 PPP1R14C NA18507 nsv5537 6 150554029 150569288 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3479 S 9 1 0 PPP1R14C NA12878 nsv830843 6 150559104 150732866 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445688,nssv1445685,nssv1445689,nssv1445683,nssv1445687,nssv1445686 M 95 1 5 IYD,PPP1R14C esv26363 6 150560586 150561196 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12137 S 451 3 0 PPP1R14C NA07045,NA12287,NA12878 esv260018 6 150599085 150599449 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399485,essv2395355 M 144 0 0 Samples from several populations that are part of the HapMap project. PPP1R14C NA18858,NA18916 esv2484812 6 150631601 150632269 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218435 S 1 1 0 "" NA18507 nsv519529 6 150653705 150660443 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696903 S 2026 0 1 "" nsv524641 6 150667265 150685723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700607 S 2026 0 1 "" nsv5538 6 150682063 150694444 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv590 S 9 0 1 "" NA19240 nsv499767 6 150685127 150689535 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586009 S 9 0 1 "" esv22808 6 150685147 150689495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20352 S 451 0 5 "" NA18502,NA18858,NA18916,NA19099,NA19240 nsv514396 6 150685408 150688096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627851 S 1414 0 1 "" esv2625832 6 150734824 150735811 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311232 S 1 1 0 IYD NA18507 esv1594235 6 150735256 150735382 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070664 S 2 0 1 IYD HuRef esv1485241 6 150735409 150735473 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337701 S 2 0 1 IYD HuRef nsv464078 6 150762132 150771571 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540066 S 1557 0 1 IYD 1787431166_A nsv819256 6 150764342 150764630 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419725 S 2 1 0 IYD AK1 nsv523189 6 150783129 150785057 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698905 S 2026 1 0 "" nsv886772 6 150785057 151065973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522729 S 6533 1 0 PLEKHG1 SP53401 nsv886773 6 150793644 150841496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564136 S 6533 0 1 "" IS30171 nsv464079 6 150878369 150915459 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540067 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00805 nsv522578 6 150910136 150915459 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705965 S 2026 1 0 "" esv2449393 6 150951992 150953126 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183947 S 1 1 0 "" NA18507 esv1078393 6 150952568 150952568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041104 S 2 1 0 "" HuRef nsv437526 6 150964808 150968192 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467407 S 60 0 1 Samples from several populations that are part of the HapMap project. PLEKHG1 NA19142 nsv464080 6 150964808 150983003 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540068 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PLEKHG1 HGDP00534 nsv886774 6 150972824 151025011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564137 S 6533 0 1 PLEKHG1 IS30171 nsv522403 6 150989217 150991908 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695185 S 2026 0 1 PLEKHG1 nsv5539 6 151070128 151104221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2738 S 9 1 0 PLEKHG1 NA18555 esv2086893 6 151139067 151140393 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845177 S 1 0 1 PLEKHG1 NA18507 esv2292678 6 151139079 151139640 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725943 S 1 0 1 PLEKHG1 NA18507 esv1000462 6 151140268 151140399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579975 S 3 0 1 PLEKHG1 HuRef nsv350123 6 151302532 151310816 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368701 M 24 MTHFD1L esv5615 6 151309192 151311710 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28056 S 1 0 1 MTHFD1L SJK dgv2016e1 6 151329901 151496532 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5369,esv438 M 271 0 0 MTHFD1L NA18563 nsv525834 6 151341100 151351967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702024 S 2026 0 1 MTHFD1L nsv518529 6 151343644 151356934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695972 S 2026 0 1 MTHFD1L nsv5540 6 151348850 151393334 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4608 S 9 0 1 MTHFD1L NA19129 nsv464081 6 151365357 151378133 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540069 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTHFD1L HGDP01380 nsv519886 6 151368726 151369639 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686651,nssv661334,nssv659312 M 2026 0 3 MTHFD1L nsv818460 6 151368726 151369639 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416742 S 112 0 1 MTHFD1L NA19160 nsv7978 6 151397040 151414350 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14567 S 31 1 0 Samples from several populations that are part of the HapMap project. MTHFD1L NA18563 nsv523123 6 151441584 151441847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698824 S 2026 0 1 MTHFD1L esv1051422 6 151453797 151453797 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156451 S 2 1 0 MTHFD1L HuRef esv1008626 6 151465523 151465619 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577107 S 3 0 1 "" HuRef esv1381183 6 151465523 151465620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267240 S 2 0 1 "" HuRef nsv823861 6 151527126 151528684 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439725,nssv1433341,nssv1422659,nssv1431372,nssv1428346,nssv1440409,nssv1434471,nssv1441123 M 31 0 8 "" AK10,AK18,NA18537,NA18552,NA18564,NA18570,NA18592,NA18969 nsv823862 6 151527645 151528684 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438210,nssv1438891 M 31 0 2 "" NA18951,NA18973 esv27763 6 151547907 151554083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18783,esv16628 M 451 0 8 "" NA07045,NA11993,NA12239,NA12287,NA12489,NA18502,NA18907,NA19114 dgv1067n67 6 151548308 151554146 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823863,nsv823865 M 31 0 5 "" AK12,AK16,AK18,AK4,NA18942 nsv820092 6 151548320 151554176 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419741 S 2 0 1 "" AK1 nsv349557 6 151548358 151554080 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368135 M 24 "" esv991382 6 151555562 151555635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582750 S 3 0 1 "" HuRef esv1613331 6 151555562 151555636 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283149 S 2 0 1 "" HuRef nsv521795 6 151624325 151625662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694566 S 2026 0 1 AKAP12 nsv519279 6 151659928 151663304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655194,nssv687250,nssv672385 M 2026 0 3 AKAP12 nsv349261 6 151691172 151691483 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367839 M 24 AKAP12 esv2410237 6 151703248 151703689 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4989265 S 1 0 1 AKAP12 NA18507 nsv5541 6 151704975 151737772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6097 S 9 1 0 AKAP12,ZBTB2 NA12156 nsv518240 6 151719051 151720891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695672 S 2026 0 1 AKAP12 esv2575520 6 151861265 151862836 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367672 S 1 0 1 C6orf97 NA18507 esv28786 6 151861487 151862510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20168 S 451 0 2 C6orf97 NA18505,NA19129 nsv523861 6 151895787 151901803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699698 S 2026 0 1 C6orf97 esv1005109 6 151897591 151899497 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563698 S 3 1 0 C6orf97 HuRef nsv516304 6 151909423 151911338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667432,nssv682500 M 2026 0 2 C6orf97 nsv830844 6 152001477 152223719 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445710,nssv1445707,nssv1445708,nssv1445709,nssv1445711,nssv1445705,nssv1445692,nssv1445691,nssv1445690,nssv1445694,nssv1445693,nssv1445704,nssv1445698,nssv1445699,nssv1445697,nssv1445696,nssv1445703,nssv1445702,nssv1445701,nssv1445700 M 95 20 0 ESR1 nsv348943 6 152013149 152014086 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367521 M 24 "" esv1722834 6 152032017 152032017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601404 S 2 1 0 "" HuRef esv27113 6 152032251 152032871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17304 S 451 0 1 "" NA18511 nsv349546 6 152099219 152103123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368124 M 24 ESR1 nsv830845 6 152177237 152346328 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445712 S 95 0 1 ESR1 nsv521296 6 152197890 152198270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697902 S 2026 0 1 ESR1 esv1599352 6 152261899 152262348 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170702 S 2 0 1 ESR1 HuRef nsv519010 6 152342320 152350825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696479 S 2026 0 1 ESR1 nsv507368 6 152344427 152350427 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621864,nssv617726,nssv620361 M 4 3 0 ESR1 CHM,NA10860,NA15510 nsv517009 6 152346021 152350825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691880,nssv661083,nssv671067,nssv653605,nssv653217,nssv658461,nssv673802,nssv686848,nssv668063,nssv686535,nssv687271,nssv685311,nssv654972,nssv660390 M 2026 0 14 ESR1 esv2553510 6 152431186 152434682 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281067 S 1 0 1 ESR1 NA18507 esv989075 6 152431478 152434402 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564878 S 3 0 1 ESR1 HuRef esv1932842 6 152431481 152434124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832826 S 1 0 1 ESR1 NA18507 dgv1068n67 6 152431617 152434093 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823868,nsv823867,nsv823869,nsv823866 M 31 0 19 ESR1 AK10,AK14,AK16,AK18,AK2,AK6,NA18537,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18947,NA18951,NA18972,NA18997,NA18999 esv3558 6 152431648 152434006 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25999 S 1 0 1 Single Asian sample YH ESR1 YH esv5694 6 152431677 152433926 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28135 S 1 0 1 ESR1 SJK dgv164e180 6 152431681 152433903 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004724,esv998326 M 3 0 1 ESR1 HuRef esv25879 6 152431681 152433972 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9867,esv12825 M 451 0 17 ESR1 NA11993,NA12749,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv5542 6 152485031 152519056 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv591 S 9 1 0 SYNE1 NA19240 nsv886775 6 152530987 152769024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536728 S 6533 0 1 SYNE1 MS12938 nsv518810 6 152558134 152558271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694276 S 2026 0 1 SYNE1 esv2537738 6 152610609 152610683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378601 S 1 0 1 SYNE1 NA18507 nsv5544 6 152648285 152683251 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3480 S 9 1 0 SYNE1 NA12878 nsv349055 6 152653883 152653975 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367633 M 24 SYNE1 esv991344 6 152653915 152654007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578275 S 3 0 1 SYNE1 HuRef nsv886776 6 152667705 152695457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590126 S 6533 0 1 SYNE1 IS38463 nsv818461 6 152702530 152708577 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417275 S 112 1 0 SYNE1 NA18593 nsv5545 6 152705984 152716487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2740 S 9 1 0 SYNE1 NA18555 nsv830846 6 152805567 152989890 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445713 S 95 0 1 SYNE1 nsv508434 6 152830182 152852977 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622559,nssv618801 M 4 0 2 SYNE1 NA10860,NA18994 nsv507369 6 152832148 152838148 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617727,nssv620362 M 4 2 0 SYNE1 CHM,NA15510 nsv464082 6 152934431 152968210 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540070 S 1557 1 0 SYNE1 1780854326_A esv1005915 6 152966684 152966684 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579320 S 3 1 0 SYNE1 HuRef esv1098429 6 152966685 152966685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043918 S 2 1 0 SYNE1 HuRef esv22532 6 152982962 152984545 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16877 S 451 0 1 SYNE1 NA12749 dgv1069n67 6 153047989 153053390 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823870,nsv823871 M 31 2 0 "" AK16,AK2 nsv823872 6 153050291 153052983 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426735 S 31 1 0 "" AK6 nsv5546 6 153062986 153081032 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6099,nssv3481 M 9 0 2 MYCT1 NA12156,NA12878 nsv508435 6 153065246 153075607 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619984,nssv618802,nssv622560 M 4 0 3 MYCT1 NA10860,NA15510,NA18994 esv2463453 6 153070581 153075700 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392350 S 1 0 1 MYCT1 NA18507 esv2228317 6 153071486 153075680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725361 S 1 0 1 MYCT1 NA18507 nsv511919 6 153071617 153076058 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624456 S 1 0 1 MYCT1 1 esv4043 6 153071637 153075538 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26484 S 1 0 1 Single Asian sample YH MYCT1 YH nsv499526 6 153071664 153075502 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586010 S 9 0 1 MYCT1 nsv348864 6 153071665 153075482 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367442 M 24 MYCT1 esv8713 6 153071678 153075479 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31154 S 1 0 1 MYCT1 SJK dgv2017e1 6 153104985 153276423 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4401,esv259 M 271 0 0 VIP NA18573 esv2535485 6 153206617 153208094 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356734 S 1 0 1 "" NA18507 esv32832 6 153242169 153256267 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93224 S 51 1 0 "" 22170 esv2123446 6 153252307 153252750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726565 S 1 0 1 "" NA18507 esv25169 6 153268372 153269431 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11453,esv15868 M 451 0 3 "" NA18508,NA19114,NA19147 nsv349873 6 153285368 153287933 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368451 M 24 "" esv8429 6 153308696 153308747 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30870 S 1 1 0 "" SJK esv24301 6 153341009 153341520 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19023 S 451 1 0 FBXO5 NA12776 esv271146 6 153471511 153471596 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514892,essv2517703,essv2517368 M 157 3 0 Samples from several populations that are part of the HapMap project. RGS17 NA12234,NA12878,NA18970 esv273759 6 153471511 153471596 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581357 S 7 1 0 Samples from several populations that are part of the HapMap project. RGS17 NA12878 esv1484621 6 153471549 153471549 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3746708 S 2 1 0 RGS17 HuRef nsv523707 6 153556704 153558375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699516 S 2026 0 1 "" nsv525235 6 153556704 153615138 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701325 S 2026 1 0 "" nsv520585 6 153591366 153670011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697504 S 2026 0 1 "" nsv517890 6 153601570 153611280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695298 S 2026 0 1 "" esv2467163 6 153674417 153675470 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342654 S 1 1 0 "" NA18507 esv269092 6 153675044 153675374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557909,essv2571817,essv2522901,essv2570793,essv2556568,essv2568130,essv2570559,essv2548210,essv2576541,essv2553913,essv2520611,essv2547540,essv2577845,essv2553884,essv2519990,essv2530463,essv2520992,essv2557400,essv2557265,essv2552607,essv2532140,essv2562649,essv2578550,essv2558819,essv2527050,essv2544968,essv2538445,essv2543003,essv2524728,essv2534848,essv2519822,essv2522151,essv2532762,essv2567318,essv2541520,essv2563721,essv2559286,essv2569033,essv2543566,essv2528050,essv2539433,essv2533964,essv2533641,essv2555544,essv2522494,essv2531599,essv2573735,essv2572081,essv2529571,essv2575602,essv2538841,essv2526574,essv2560783,essv2524217,essv2574933,essv2568597,essv2545174,essv2571460,essv2546094,essv2574311,essv2551528,essv2536104,essv2538132,essv2554738,essv2547825,essv2563350 M 157 66 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA07347,NA10847,NA10851,NA11840,NA11931,NA11993,NA11994,NA11995,NA12044,NA12045,NA12154,NA12287,NA12716,NA12717,NA12761,NA12763,NA12815,NA18486,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18510,NA18516,NA18522,NA18526,NA18547,NA18550,NA18555,NA18561,NA18566,NA18571,NA18576,NA18582,NA18592,NA18603,NA18638,NA18861,NA18870,NA18907,NA18912,NA18916,NA18944,NA18945,NA18960,NA18961,NA18964,NA18973,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19138,NA19147,NA19172,NA19238,NA19239,NA19240,NA19257 esv273129 6 153675044 153675374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582143,essv2582376 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2578753 6 153677803 153679332 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326314 S 1 0 1 "" NA18507 nsv823873 6 153786608 153788390 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425822 S 31 1 0 "" AK4 dgv7009n71 6 153790027 153846546 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886778,nsv886777,nsv886779 M 6533 0 4 "" IS31137,IS38148,IS39464,MS17114 nsv886780 6 153790027 153864429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582351 S 6533 0 1 "" IS35911 dgv7010n71 6 153790027 153896858 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886782,nsv886781 M 6533 0 2 "" IS37226,IS37730 nsv823874 6 153792138 153793683 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440519 S 31 0 1 "" NA18547 nsv527104 6 153817003 153842863 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703484 S 2026 0 1 "" dgv784n27 6 153819239 153852496 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464085,nsv464083 M 1557 0 2 "" HGDP01237,HGDP01238 nsv520116 6 153864429 153907736 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660908,nssv686232 M 2026 2 0 "" esv9569 6 153865187 153865244 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32010 S 1 1 0 "" SJK esv270514 6 153900840 153901161 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541047,essv2521179,essv2526168,essv2536694,essv2544072,essv2568231,essv2577402,essv2576835,essv2554309,essv2520617,essv2558368,essv2578071,essv2565268,essv2544670,essv2533420,essv2554683,essv2547767 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA11831,NA11894,NA11918,NA11920,NA11992,NA11995,NA12043,NA12154,NA12287,NA12716,NA12750,NA12761,NA12812,NA18526 esv24397 6 153966277 153974296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12343 S 451 0 1 "" NA19190 esv2379354 6 153974028 153974508 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555652 S 1 0 1 "" NA18507 nsv349008 6 153974153 153974311 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367586 M 24 "" nsv5547 6 153975899 154009649 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2741 S 9 1 0 "" NA18555 nsv435840 6 153996976 154004415 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466325 S 2 0 1 "" NA15510 nsv511334 6 153997386 154007740 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625611 S 1 1 0 "" 1 nsv436526 6 153999578 154004609 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466326 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv24135 6 154000228 154003169 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18618 S 451 0 9 "" NA15510,NA18505,NA18511,NA18858,NA18907,NA18916,NA19129,NA19147,NA19257 esv273674 6 154085595 154086251 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581348 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv519274 6 154153394 154156276 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694321 S 2026 0 1 "" dgv2018e1 6 154161621 154181892 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1081,essv716 M 271 0 0 "" NA18940,NA18990 dgv2019e1 6 154161621 154336142 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv73,essv3465,essv4504,essv524,essv5919,essv24854,esv656,essv7264,essv5088 M 271 0 0 "" NA07000,NA18550,NA18552,NA18577,NA18592,NA18991,NA18992,NA18998 nsv442015 6 154163677 154169933 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv823876 6 154163875 154171249 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425044 S 31 0 1 "" AK2 nsv7979 6 154191680 154193520 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17153 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 esv2331195 6 154215952 154216385 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738163 S 1 0 1 "" NA18507 esv999762 6 154216136 154216188 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574035 S 3 0 1 "" HuRef esv1686001 6 154216168 154216221 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064977 S 2 0 1 "" HuRef nsv5548 6 154219183 154248471 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8315 S 9 0 1 "" NA12156 nsv5549 6 154303974 154335147 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11137 S 9 1 0 "" NA15510 nsv523047 6 154320077 154324902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698730 S 2026 0 1 "" nsv510058 6 154320890 154326890 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618249,nssv624018,nssv621296 M 4 0 3 "" CHM,NA15510,NA18994 esv2146095 6 154325807 154326277 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914365 S 1 0 1 "" NA18507 esv2516727 6 154385000 154385463 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296873 S 1 1 0 OPRM1 NA18507 nsv516084 6 154390298 154402490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692458,nssv692764,nssv666111 M 2026 0 3 OPRM1 nsv886783 6 154409860 154464437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521130 S 6533 0 1 OPRM1 SP52224 nsv527049 6 154420845 154425351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703425 S 2026 0 1 OPRM1 nsv520558 6 154425351 154460107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694388 S 2026 0 1 OPRM1 nsv886784 6 154435577 154481209 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554366 S 6533 0 1 OPRM1 MS20753 esv259847 6 154465042 154465799 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395635,essv2398688 M 144 0 0 Samples from several populations that are part of the HapMap project. OPRM1 NA18501,NA19190 nsv524944 6 154478944 154483556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700961 S 2026 0 1 OPRM1 nsv830847 6 154481579 154618371 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445714 S 95 1 0 IPCEF1,OPRM1 esv2482492 6 154487882 154489341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383554 S 1 0 1 OPRM1 NA18507 esv2085542 6 154488421 154489126 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604311 S 1 0 1 OPRM1 NA18507 esv2944 6 154488554 154489064 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25385 S 1 0 1 Single Asian sample YH OPRM1 YH esv6786 6 154488606 154488931 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29227 S 1 0 1 OPRM1 SJK nsv349212 6 154488608 154488929 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367790 M 24 OPRM1 esv1000500 6 154488615 154488936 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568554 S 3 0 1 OPRM1 HuRef esv1146800 6 154488622 154488944 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028406 S 2 0 1 OPRM1 HuRef esv2360629 6 154504747 154505120 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627337 S 1 0 1 OPRM1 NA18507 esv2429923 6 154504930 154505020 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220386 S 1 0 1 OPRM1 NA18507 esv1070898 6 154504939 154505030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797745 S 2 0 1 OPRM1 HuRef esv1212073 6 154505120 154505120 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870959 S 2 1 0 OPRM1 HuRef nsv5550 6 154585710 154618582 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv592 S 9 1 0 IPCEF1,OPRM1 NA19240 esv32616 6 154627955 154640869 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97483 S 51 0 1 IPCEF1 21616 nsv523401 6 154656118 154672233 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699152 S 2026 1 0 IPCEF1 nsv886785 6 154656118 154705057 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565007 S 6533 1 0 IPCEF1 IS30332 nsv819588 6 154661245 154663294 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419373 S 2 1 0 IPCEF1 AK1 nsv823877 6 154661258 154663386 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436688,nssv1425823,nssv1426740,nssv1429130,nssv1440530,nssv1441124 M 31 0 6 IPCEF1 AK12,AK4,NA18542,NA18547,NA18968,NA18969 esv21915 6 154661490 154663386 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10576 S 451 8 1 IPCEF1 NA11931,NA12749,NA12776,NA18505,NA18508,NA18861,NA18909,NA19129,NA19225 nsv821323 6 154661490 154663386 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420610 S 1 0 1 IPCEF1 NA10851 esv1002780 6 154661651 154663264 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586812 S 3 1 0 IPCEF1 HuRef nsv823878 6 154661651 154663264 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435919,nssv1432923,nssv1438212,nssv1423465,nssv1424267,nssv1429875,nssv1421763,nssv1439727,nssv1422661,nssv1433352,nssv1426736,nssv1437482,nssv1440411,nssv1425045,nssv1431376,nssv1428349,nssv1427212,nssv1438892,nssv1433709,nssv1427542 M 31 20 0 IPCEF1 AK10,AK14,AK18,AK2,AK6,AK8,NA18526,NA18537,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18949,NA18951,NA18972,NA18973,NA18997,NA18999 nsv886786 6 154693717 154759134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557544 S 6533 1 0 IPCEF1 MS22748 esv6100 6 154697251 154701002 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28541 S 1 0 0 IPCEF1 SJK esv2510969 6 154716861 154717931 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368852 S 1 1 0 IPCEF1 NA18507 esv9713 6 154728210 154728506 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32154 S 1 0 1 "" SJK nsv886787 6 154735871 154790322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565008 S 6533 1 0 CNKSR3 IS30332 nsv7981 6 154749030 154768425 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15209 S 31 0 1 Samples from several populations that are part of the HapMap project. CNKSR3 NA19173 dgv2020e1 6 154752428 154799568 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1359,essv12118 M 271 0 0 CNKSR3 NA19173 nsv818462 6 154755453 154765600 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416552,nssv1416553 M 112 0 2 "" NA19171,NA19173 nsv523663 6 154846342 154853289 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699464 S 2026 1 0 CNKSR3 esv2438778 6 154848855 154850342 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276739 S 1 0 1 CNKSR3 NA18507 esv3446 6 154859053 154859388 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25887 S 1 0 1 Single Asian sample YH CNKSR3 YH nsv823879 6 154867567 154868459 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423466,nssv1440541,nssv1421765,nssv1431377,nssv1435146,nssv1433710 M 31 0 6 CNKSR3 AK18,NA18526,NA18547,NA18942,NA18997,NA18999 dgv1070n67 6 154867824 154868459 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823880,nsv823881 M 31 0 2 CNKSR3 NA18537,NA18566 esv269180 6 154882320 154882645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556689,essv2548369,essv2521677,essv2550621,essv2535109,essv2565340,essv2564094,essv2520808,essv2550194,essv2534739,essv2519760,essv2531165,essv2532710,essv2569903,essv2566993,essv2573971,essv2527528,essv2571857,essv2575274,essv2538611,essv2524040,essv2560240,essv2549685,essv2551468,essv2524979 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11994,NA12045,NA12144,NA12155,NA12249,NA12812,NA12828,NA18498,NA18511,NA18561,NA18566,NA18573,NA18576,NA18593,NA18853,NA18951,NA18952,NA18973,NA19102,NA19108,NA19129,NA19190,NA19225,NA19257 nsv512897 6 154887565 154888108 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625542 S 1 1 0 "" 1 esv1715935 6 154888093 154888211 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319144 S 2 0 1 "" HuRef esv275489 6 154913772 154920072 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585180 S 1250 0 1 "" nsv442016 6 155005358 155013624 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1385171 6 155093350 155093350 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922810 S 2 1 0 "" HuRef esv275420 6 155126077 155136526 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585486,essv2585728 M 1250 1 1 SCAF8 nsv886788 6 155156731 155207161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499640 S 6533 0 1 SCAF8 SP50128 esv23624 6 155159916 155164723 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19547 S 451 0 2 SCAF8 NA11995,NA12239 esv32566 6 155160177 155166601 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100792,essv98276,essv95432,essv93015 M 51 0 4 SCAF8 21656,21772,21847,21863 nsv5551 6 155186264 155231052 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8316 S 9 0 1 SCAF8 NA12156 nsv823882 6 155194790 155195938 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421766 S 31 0 1 SCAF8 NA18997 nsv470867 6 155273374 155307347 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544738 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01034 nsv464086 6 155273374 155313644 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540074 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01034 esv1003454 6 155305096 155305152 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573723 S 3 0 1 "" HuRef esv1127148 6 155305096 155305153 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058145 S 2 0 1 "" HuRef nsv349884 6 155314311 155314311 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368462 M 24 "" esv992520 6 155314386 155314386 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569290 S 3 1 0 "" HuRef esv998489 6 155319167 155319167 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584699 S 3 1 0 "" HuRef esv1261278 6 155319168 155319168 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699211 S 2 1 0 "" HuRef nsv886789 6 155378912 155647179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556792 S 6533 1 0 CLDN20,TFB1M,TIAM2 MS22177 esv1462891 6 155379344 155379344 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296745 S 2 1 0 "" HuRef esv1272822 6 155390673 155390731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893064 S 2 0 1 "" HuRef esv1215268 6 155391838 155391904 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3990920 S 2 0 1 "" HuRef esv1439070 6 155391968 155391968 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333942 S 2 1 0 "" HuRef nsv349745 6 155392093 155392167 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368323 M 24 "" esv9372 6 155474232 155474312 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31813 S 1 1 0 TIAM2 SJK esv271450 6 155479911 155479996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514132,essv2518776,essv2517707,essv2516253 M 157 4 0 Samples from several populations that are part of the HapMap project. TIAM2 NA12043,NA12045,NA12878,NA12891 esv274656 6 155479916 155479993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583988,essv2584428,essv2583525 M 7 3 0 Samples from several populations that are part of the HapMap project. TIAM2 NA19238,NA19239,NA19240 nsv5552 6 155493301 155538055 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8317 S 9 0 1 TIAM2 NA12156 nsv886790 6 155514231 155626970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555498 S 6533 0 1 CLDN20,TFB1M,TIAM2 MS21397 esv5639 6 155523582 155523776 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28080 S 1 0 0 TIAM2 SJK nsv525690 6 155577394 155581922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701849 S 2026 0 1 TIAM2 nsv526576 6 155592913 155621092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702894 S 2026 0 1 TFB1M,TIAM2 esv1338847 6 155668012 155668144 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183607 S 2 0 1 TFB1M HuRef nsv886791 6 155687299 156019789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556793 S 6533 1 0 NOX3 MS22177 nsv520490 6 155716021 155739566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688940,nssv672458,nssv671816,nssv696842,nssv677311 M 2026 0 5 "" nsv886792 6 155716021 155780684 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584028 S 6533 0 1 NOX3 IS36787 esv33329 6 155773931 155775174 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100072 S 51 0 1 NOX3 22086 nsv525807 6 155817298 155838522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701991 S 2026 0 1 NOX3 nsv5553 6 155817997 155828999 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2621 S 9 0 1 NOX3 NA18555 esv2172692 6 155858360 155858769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590655 S 1 0 1 "" NA18507 esv2422505 6 155870213 156717051 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161368 S 181 0 1 "" ND03664 nsv519685 6 155875648 155882462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658077,nssv657565,nssv658000 M 2026 0 3 "" esv273149 6 155957622 155957789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580358 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv271711 6 155957674 155957759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514717,essv2515268 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA19238 esv25733 6 155959874 155961397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15605 S 451 0 3 "" NA18517,NA18858,NA19257 nsv823883 6 155960280 155961332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438213 S 31 0 1 "" NA18951 nsv510059 6 156019021 156025021 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621297 S 4 0 1 "" NA15510 esv271547 6 156040536 156040666 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497538,essv2499823 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19147,NA19225 nsv521174 6 156050065 156069238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683811,nssv686510 M 2026 0 2 "" esv1278182 6 156070506 156070506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021370 S 2 1 0 "" HuRef esv1295124 6 156070970 156070970 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3896985 S 2 1 0 "" HuRef esv2633165 6 156093218 156095269 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346720 S 1 0 1 "" NA18507 esv2293653 6 156093621 156094619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994410 S 1 0 1 "" NA18507 esv26803 6 156093719 156094969 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21274 S 451 0 1 "" NA19114 esv2442029 6 156122290 156123420 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203811 S 1 1 0 "" NA18507 esv1006644 6 156122915 156122916 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582118 S 3 1 0 "" HuRef nsv348531 6 156122916 156122916 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367109 M 24 "" esv1539111 6 156133868 156133868 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116067 S 2 1 0 "" HuRef esv3053 6 156185745 156186059 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25494 S 1 0 1 Single Asian sample YH "" YH esv21676 6 156202217 156203771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12993 S 451 0 1 "" NA18505 nsv886793 6 156335489 156405340 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549352 S 6533 1 0 "" MS18195 esv2367961 6 156343990 156344324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756035 S 1 0 1 "" NA18507 esv3080 6 156344089 156344314 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25521 S 1 0 1 Single Asian sample YH "" YH nsv5555 6 156481397 156514850 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8318 S 9 1 0 "" NA12156 esv34162 6 156494226 156945747 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv886794 6 156518654 156559066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578558 S 6533 0 1 "" IS34805 esv2178978 6 156541601 156542011 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4925762 S 1 0 1 "" NA18507 esv2478447 6 156553783 156554836 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358376 S 1 1 0 "" NA18507 esv270171 6 156582762 156583037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494224,essv2498327,essv2500361,essv2503318,essv2497253,essv2508256,essv2507863,essv2511263,essv2494447,essv2510010,essv2507455,essv2511657,essv2504969,essv2497912,essv2505445,essv2500563,essv2495931,essv2498790,essv2510406 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18526,NA18537,NA18542,NA18552,NA18561,NA18564,NA18570,NA18572,NA18593,NA18638,NA18940,NA18942,NA18945,NA18952,NA18956,NA18961,NA19138,NA19172 esv2519853 6 156717400 156718886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238030 S 1 0 1 "" NA18507 esv27223 6 156771751 156772256 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19140 S 451 0 1 "" NA19190 esv1005375 6 156839945 156840004 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570798 S 3 0 1 "" HuRef esv1788224 6 156839948 156840008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790949 S 2 0 1 "" HuRef nsv522892 6 156859126 156881264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698550 S 2026 0 1 "" esv2557141 6 156865383 156866859 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263378 S 1 0 1 "" NA18507 esv33459 6 156953922 156954303 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100875 S 51 0 1 "" 21656 nsv823884 6 157103499 157171727 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435147 S 31 0 1 ARID1B,MIR4466 NA18942 nsv519889 6 157114507 157151493 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697108 S 2026 0 1 ARID1B,MIR4466 dgv1071n67 6 157137272 157144380 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823885,nsv823887 M 31 2 0 ARID1B,MIR4466 NA18526,NA18972 esv33003 6 157172446 157878320 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100068 S 51 0 1 ARID1B,MIR3692,ZDHHC14 22086 nsv507370 6 157222852 157228852 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620363 S 4 1 0 ARID1B NA15510 nsv523413 6 157241084 157274781 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699164 S 2026 1 0 ARID1B nsv508436 6 157286879 157293666 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622561 S 4 0 1 ARID1B NA18994 nsv5556 6 157302648 157348000 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6100 S 9 0 1 ARID1B NA12156 esv271459 6 157439344 157439702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514736,essv2515049,essv2516379,essv2517739,essv2513676 M 157 5 0 Samples from several populations that are part of the HapMap project. ARID1B NA07347,NA12234,NA12812,NA12814,NA12878 esv272891 6 157439344 157439702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581124 S 7 1 0 Samples from several populations that are part of the HapMap project. ARID1B NA19240 esv1041952 6 157510034 157510124 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115417 S 2 0 1 ARID1B HuRef esv27020 6 157510144 157510706 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20223 S 451 0 2 ARID1B NA18523,NA19147 esv1286652 6 157510201 157510297 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644244 S 2 0 1 ARID1B HuRef esv5688 6 157575906 157575989 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28129 S 1 1 0 "" SJK nsv509155 6 157650790 157659132 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623486 S 4 1 0 "" NA18994 esv22447 6 157651440 157655375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16533 S 451 0 5 "" NA11995,NA12044,NA12878,NA18916,NA19114 nsv820493 6 157651440 157655375 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420611 S 1 1 0 "" NA10851 esv4246 6 157651541 157655004 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26687 S 1 0 0 Single Asian sample YH "" YH esv3990 6 157651649 157653641 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26431 S 1 0 0 Single Asian sample YH "" YH nsv349327 6 157652194 157652771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367905 M 24 "" esv2127993 6 157652195 157652639 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519453 S 1 0 1 "" NA18507 nsv349208 6 157652713 157653120 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367786 M 24 "" nsv349114 6 157653531 157653972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367692 M 24 "" esv5900 6 157654387 157654842 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28341 S 1 0 1 "" SJK nsv349938 6 157701795 157701918 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368516 M 24 "" nsv886795 6 157758181 157833287 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499459 S 6533 0 1 ZDHHC14 SP50571 esv28761 6 157832562 157833474 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20814 S 451 1 0 ZDHHC14 NA12749 esv2124670 6 157863728 157864078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980624 S 1 0 1 ZDHHC14 NA18507 nsv509156 6 157876623 157902056 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623487,nssv618058 M 4 2 0 ZDHHC14 CHM,NA18994 esv2610603 6 157877299 157878638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301560 S 1 0 1 ZDHHC14 NA18507 esv2076685 6 157877635 157878321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522882 S 1 0 1 ZDHHC14 NA18507 esv3496 6 157877768 157878257 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25937 S 1 0 1 Single Asian sample YH ZDHHC14 YH esv1113682 6 157877828 157878135 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207883 S 2 0 1 ZDHHC14 HuRef esv996138 6 157877834 157878140 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580399 S 3 0 1 ZDHHC14 HuRef esv6974 6 157877841 157878145 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29415 S 1 0 1 ZDHHC14 SJK esv273971 6 157888451 157894757 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580609 S 7 1 0 Samples from several populations that are part of the HapMap project. ZDHHC14 NA19238 esv270746 6 157888475 157894760 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510224,essv2503201,essv2506782,essv2495433,essv2511219,essv2504457,essv2499382,essv2505155,essv2512433,essv2508072,essv2501721,essv2505492,essv2512229,essv2502850,essv2510377,essv2508591,essv2502560,essv2507734,essv2503828,essv2496594,essv2511742,essv2510581,essv2494343,essv2504260,essv2502954,essv2509924,essv2496233,essv2501081,essv2493664,essv2494726,essv2494936,essv2509117,essv2506008,essv2498313,essv2500397,essv2503346,essv2497328,essv2513003,essv2494573,essv2500030,essv2508234,essv2494426,essv2508111,essv2508594,essv2510046,essv2501549,essv2505168,essv2501073,essv2505853,essv2507166,essv2494062,essv2513394,essv2509247,essv2507300,essv2511609,essv2503118,essv2511139,essv2503572,essv2512369,essv2496036,essv2505649,essv2501349,essv2504826,essv2507003,essv2506467,essv2498999,essv2510879,essv2509611,essv2498835,essv2497673,essv2496921,essv2499701,essv2502038,essv2495741,essv2503893,essv2495076,essv2511544,essv2504372,essv2513092 M 157 79 0 Samples from several populations that are part of the HapMap project. ZDHHC14 NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11881,NA11918,NA11919,NA11931,NA11993,NA11994,NA11995,NA12043,NA12045,NA12144,NA12154,NA12155,NA12156,NA12414,NA12717,NA12750,NA12751,NA12761,NA18486,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18558,NA18561,NA18572,NA18579,NA18592,NA18593,NA18608,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18940,NA18943,NA18944,NA18947,NA18949,NA18961,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19147,NA19190,NA19225,NA19257 esv274649 6 157888684 157888769 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581053 S 7 1 0 Samples from several populations that are part of the HapMap project. ZDHHC14 NA19240 esv33442 6 157888731 157953865 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93888,essv99293,essv97679 M 51 0 3 ZDHHC14 21634,22275,22278 esv33371 6 157953865 157989538 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95561 S 51 0 1 ZDHHC14 21847 nsv521835 6 158020187 158035775 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694608 S 2026 1 0 "" nsv525481 6 158072319 158117314 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701609 S 2026 1 0 "" esv5689 6 158074791 158074871 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28130 S 1 1 0 "" SJK nsv5557 6 158087662 158122944 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv594,nssv3482,nssv4950 M 9 3 0 "" NA12878,NA19129,NA19240 nsv509157 6 158092771 158129650 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618059,nssv619459,nssv623488 M 4 3 0 "" CHM,NA10860,NA18994 nsv823888 6 158161315 158166629 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432925 S 31 1 0 SNX9 NA18972 esv272751 6 158170142 158170227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581555,essv2581222 M 7 2 0 Samples from several populations that are part of the HapMap project. SNX9 NA12878,NA19240 nsv5558 6 158257037 158301796 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4951 S 9 0 1 SNX9 NA19129 nsv518831 6 158279803 158281887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657354,nssv681025 M 2026 0 2 SNX9 nsv886796 6 158355611 158407131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546614 S 6533 0 1 SYNJ2 MS17208 nsv5559 6 158362616 158384849 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2622 S 9 0 1 SYNJ2 NA18555 nsv886797 6 158443130 158684179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599893 S 6533 1 0 GTF2H5,SERAC1,TULP4 IS41806 nsv830849 6 158459211 158620870 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445716,nssv1445715 M 95 0 2 GTF2H5,SERAC1 esv2527722 6 158467650 158469671 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198786 S 1 0 1 SERAC1 NA18507 nsv511920 6 158467681 158469108 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624457 S 1 0 1 SERAC1 1 esv1916968 6 158468064 158469275 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952324 S 1 0 1 SERAC1 NA18507 esv5299 6 158468228 158469214 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27740 S 1 0 1 Single Asian sample YH SERAC1 YH esv1769243 6 158468254 158469054 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006227 S 2 0 1 SERAC1 HuRef esv8377 6 158468271 158469058 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30818 S 1 0 1 SERAC1 SJK nsv348752 6 158468271 158469070 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367330 M 24 SERAC1 esv1252764 6 158510658 158510658 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670851 S 2 1 0 GTF2H5 HuRef nsv823889 6 158534526 158602784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435148 S 31 0 1 GTF2H5 NA18942 nsv823890 6 158542376 158544226 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438893 S 31 0 1 "" NA18973 dgv2021e1 6 158548193 158569341 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1090,essv3676 M 271 0 0 "" NA18943 nsv7982 6 158575695 158579111 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15239 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 esv269229 6 158590344 158590429 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514882,essv2514427,essv2519364 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12234,NA12874 dgv2022e1 6 158598858 158678489 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12045,esv1094 M 271 0 0 TULP4 NA19116 esv9030 6 158603943 158604046 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31471 S 1 1 0 "" SJK essv20503 6 158656799 158678489 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. TULP4 NA12874 esv2390619 6 158677879 158678294 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930619 S 1 0 1 TULP4 NA18507 nsv5560 6 158726217 158760477 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv595 S 9 1 0 TULP4 NA19240 esv4303 6 158781646 158782943 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26744 S 1 0 1 Single Asian sample YH TULP4 YH esv269627 6 158790450 158790894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497133,essv2499264,essv2504955,essv2495168 M 157 4 0 Samples from several populations that are part of the HapMap project. TULP4 NA18552,NA18605,NA18942,NA18964 esv2605411 6 158795380 158796949 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162722 S 1 0 1 TULP4 NA18507 esv2235507 6 158795901 158796506 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962021 S 1 0 1 TULP4 NA18507 esv5051 6 158796017 158796441 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27492 S 1 0 1 Single Asian sample YH TULP4 YH nsv5561 6 158819549 158845287 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3483 S 9 1 0 TULP4 NA12878 esv2116186 6 158832361 158832697 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554458 S 1 0 1 TULP4 NA18507 nsv349862 6 158832411 158832501 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368440 M 24 TULP4 dgv1072n67 6 158849380 158850670 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823892,nsv823891 M 31 2 0 TULP4 NA18542,NA18997 nsv518771 6 158934014 158936064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696221 S 2026 0 1 TMEM181 nsv349061 6 158947313 158947313 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367639 M 24 TMEM181 nsv5562 6 158996686 159031021 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3485 S 9 1 0 SYTL3 NA12878 nsv523641 6 159029669 159029826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699442 S 2026 1 0 SYTL3 esv2587253 6 159042102 159042866 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372521 S 1 1 0 SYTL3 NA18507 nsv528709 6 159042867 159043814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705359 S 2026 0 1 SYTL3 nsv528373 6 159043578 159043814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704960 S 2026 0 1 SYTL3 esv2134507 6 159045690 159046166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740778 S 1 0 1 SYTL3 NA18507 nsv349192 6 159045835 159045885 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367770 M 24 SYTL3 esv24318 6 159045837 159046662 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21333 S 451 0 12 SYTL3 NA18505,NA18858,NA18861,NA18907,NA18909,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv823893 6 159076279 159076797 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431378 S 31 0 1 SYTL3 AK18 nsv823894 6 159086022 159093971 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440552 S 31 0 1 SYTL3 NA18547 esv268294 6 159086256 159086583 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542242,essv2544151,essv2523294,essv2577275,essv2570482,essv2576763,essv2535304,essv2554288,essv2544479,essv2558258,essv2564752,essv2578099,essv2576451,essv2537690,essv2546660,essv2520798,essv2552523,essv2532249,essv2569359,essv2558954,essv2537009,essv2569733,essv2527288,essv2567918,essv2553144,essv2551076,essv2569199,essv2556153,essv2527953,essv2534078,essv2533679,essv2530046,essv2529592,essv2575790,essv2575105,essv2538689,essv2560624,essv2574589,essv2560196,essv2549777,essv2571363,essv2574236,essv2551420,essv2536083 M 157 44 0 Samples from several populations that are part of the HapMap project. SYTL3 NA06986,NA11919,NA11992,NA12004,NA12043,NA12044,NA12154,NA12249,NA12287,NA12414,NA12750,NA12751,NA12761,NA12814,NA12878,NA12892,NA18498,NA18502,NA18505,NA18508,NA18516,NA18517,NA18520,NA18522,NA18577,NA18605,NA18858,NA18861,NA18871,NA18907,NA18916,NA18944,NA18949,NA19093,NA19099,NA19102,NA19108,NA19116,NA19138,NA19190,NA19225,NA19238,NA19240,NA19257 esv274467 6 159086257 159086582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581824,essv2582611 M 7 2 0 Samples from several populations that are part of the HapMap project. SYTL3 NA12878,NA12891 esv268739 6 159124390 159124723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558002,essv2565576,essv2546543,essv2525993,essv2542566,essv2536422,essv2522884,essv2544125,essv2545497,essv2531695,essv2577484,essv2570720,essv2548514,essv2521789,essv2576535,essv2525433,essv2550415,essv2535395,essv2554087,essv2544303,essv2551963,essv2520577,essv2547395,essv2558543,essv2564584,essv2577767,essv2553679,essv2559650,essv2565408,essv2576144,essv2564158,essv2561958,essv2537344,essv2528402,essv2546918,essv2520940,essv2557164,essv2552478,essv2551894,essv2532145,essv2578738,essv2558735,essv2569771,essv2544636,essv2552990,essv2524619,essv2566239,essv2567765,essv2528957,essv2541830,essv2569892,essv2563898,essv2566718,essv2551012,essv2569056,essv2527745,essv2562184,essv2555438,essv2533576,essv2566535,essv2530080,essv2555912,essv2529737,essv2575637,essv2526711,essv2560261,essv2549747,essv2571224,essv2545979,essv2574453,essv2551473,essv2538110,essv2548906,essv2533020,essv2554615,essv2547840,essv2524850,essv2563234 M 157 78 0 Samples from several populations that are part of the HapMap project. EZR NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12874,NA12878,NA12891,NA12892,NA18498,NA18501,NA18502,NA18504,NA18505,NA18510,NA18516,NA18520,NA18526,NA18542,NA18555,NA18572,NA18577,NA18579,NA18592,NA18593,NA18603,NA18853,NA18858,NA18861,NA18907,NA18909,NA18943,NA18944,NA18948,NA18949,NA18956,NA19093,NA19099,NA19114,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272622 6 159124390 159124723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582037,essv2582386,essv2582868,essv2584079,essv2584651,essv2583445 M 7 6 0 Samples from several populations that are part of the HapMap project. EZR NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1726695 6 159144549 159144657 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606979 S 2 0 1 EZR HuRef esv992884 6 159152359 159152415 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582751 S 3 0 1 EZR HuRef esv1316592 6 159152389 159152446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609011 S 2 0 1 EZR HuRef dgv1073n67 6 159234692 159238822 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823895,nsv823898 M 31 0 2 C6orf99 NA18582,NA18592 dgv1074n67 6 159234692 159244519 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823896,nsv823900,nsv823899 M 31 0 3 C6orf99 AK12,NA18566,NA18951 nsv442017 6 159236414 159238562 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C6orf99 nsv527528 6 159244539 159244960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703986 S 2026 0 1 C6orf99 nsv886798 6 159267403 159418118 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558261 S 6533 1 0 RSPH3,TAGAP MS23184 esv1140815 6 159304425 159304570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602572 S 2 0 1 "" HuRef esv33150 6 159324415 159324479 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99886 S 51 0 1 RSPH3 22086 esv33909 6 159325238 159325525 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99893 S 51 0 1 RSPH3 22086 esv33554 6 159334999 159338940 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100062 S 51 0 1 RSPH3 22086 esv32758 6 159338487 159339565 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101127,essv95488,essv92868 M 51 0 3 RSPH3 21618,21847,21939 esv33761 6 159357022 159358848 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99801 S 51 0 1 "" 22086 esv28702 6 159442717 159443322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11704 S 451 0 2 "" NA11995,NA18517 esv1128589 6 159474602 159474658 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847789 S 2 0 1 "" HuRef nsv519356 6 159480014 159492910 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673010,nssv655616 M 2026 0 2 "" nsv830850 6 159504249 159698834 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445718,nssv1445719 M 95 2 0 FNDC1 nsv886799 6 159518619 159575392 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568541 S 6533 0 1 FNDC1 IS31302 nsv830851 6 159568436 159733322 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445721,nssv1445720,nssv1445730,nssv1445742,nssv1445724,nssv1445723,nssv1445725,nssv1445726,nssv1445727,nssv1445741,nssv1445737,nssv1445733,nssv1445732,nssv1445731,nssv1445736,nssv1445735,nssv1445738,nssv1445746,nssv1445744,nssv1445743,nssv1445748,nssv1445747,nssv1445722,nssv1445729,nssv1445745,nssv1445734 M 95 26 0 FNDC1 esv2287378 6 159571915 159572598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876125 S 1 0 1 FNDC1 NA18507 esv992188 6 159572103 159572415 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569039 S 3 0 1 FNDC1 HuRef esv1197817 6 159572115 159572428 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073330 S 2 0 1 FNDC1 HuRef esv2595923 6 159586088 159587721 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239511 S 1 0 1 FNDC1 NA18507 esv2307373 6 159586562 159587296 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910502 S 1 0 1 FNDC1 NA18507 esv4520 6 159586666 159587163 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26961 S 1 0 1 Single Asian sample YH FNDC1 YH esv995554 6 159586760 159587082 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573382 S 3 0 1 FNDC1 HuRef esv2473194 6 159586762 159587084 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344029 S 1 0 1 FNDC1 NA18507 esv1401887 6 159586768 159587091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961906 S 2 0 1 FNDC1 HuRef esv22549 6 159593618 159594083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10148 S 451 0 2 FNDC1 NA11894,NA19225 nsv349266 6 159610206 159610426 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367844 M 24 FNDC1 esv1115946 6 159624584 159624584 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045699 S 2 1 0 "" HuRef esv2601544 6 159645561 159646604 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316017 S 1 1 0 "" NA18507 nsv526678 6 159667733 159682355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703010 S 2026 0 1 "" dgv7011n71 6 159825517 159905414 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886803,nsv886800,nsv886802,nsv886801 M 6533 6 0 "" IS31118,IS31570,IS31799,IS32644,IS33519,IS38145 dgv7012n71 6 159864986 159905414 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886805,nsv886804 M 6533 2 0 "" IS30070,IS38308 esv24985 6 159883283 159883782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11324 S 451 0 3 "" NA07045,NA18502,NA18858 dgv2023e1 6 159923821 160135141 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20214,essv19692,essv20358,essv15797,essv17139,essv6606,essv24900,esv49,essv11525,essv23525,essv2051,essv12281,essv17779 M 271 0 0 ACAT2,LOC100129518,MRPL18,SNORA20,SNORA29,SOD2,TCP1,WTAP NA06993,NA06994,NA10831,NA12144,NA12236,NA12264,NA18621,NA18949,NA19101,NA19131,NA19171,NA19173 esv2548293 6 159945399 159946246 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313014 S 1 1 0 "" NA18507 esv1771799 6 159945890 159945890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791888 S 2 1 0 "" HuRef nsv7983 6 160005387 160009817 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14835,nssv15256,nssv14525,nssv16332,nssv14797,nssv17183,nssv14364,nssv13639,nssv15048,nssv17474,nssv15034 M 31 0 11 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA11830,NA18502,NA18517,NA18537,NA18552,NA18564,NA18572,NA18972,NA18975 esv28387 6 160006217 160008613 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16146,esv11609 M 451 0 16 "" NA11894,NA11931,NA11993,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18517,NA18523,NA18861,NA18907,NA19257 esv6704 6 160006255 160008682 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29145 S 1 0 1 "" SJK dgv1075n67 6 160006908 160008328 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823901,nsv823902 M 31 0 10 "" AK14,NA18537,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18951,NA18999 esv32709 6 160007135 160008150 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101470,essv98753,essv101119,essv93966,essv100744,essv96841,essv100937,essv95113,essv98236,essv94354,essv97053,essv95757,essv93175,essv95307,essv97362,essv101659,essv95832,essv95925,essv94521,essv92920,essv92819,essv93754,essv96747,essv98541,essv99817,essv96052,essv93513,essv99647,essv95045,essv92611,essv98031,essv99309,essv97749,essv100200,essv100613,essv100419,essv94212 M 51 35 1 "" 21603,21606,21618,21634,21656,21659,21693,21721,21772,21808,21817,21841,21863,21872,21879,21909,21911,21932,21939,21944,21972,22011,22085,22086,22127,22128,22217,22231,22233,22259,22275,22278,22286,22298,22300,22394 dgv1076n67 6 160007136 160008109 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823903,nsv823904 M 31 0 2 "" NA18526,NA18973 nsv886806 6 160011550 160051933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519557 S 6533 0 1 SOD2 SP81091 esv33081 6 160021217 160021537 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99561 S 51 1 0 SOD2 22335 esv21844 6 160051692 160055833 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21184,esv19935 M 451 3 0 "" NA06985,NA12156,NA19108 nsv5563 6 160116805 160129629 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9700 S 9 1 0 ACAT2,SNORA20,SNORA29,TCP1 NA18507 esv22776 6 160131253 160131738 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15556 S 451 1 0 MRPL18 NA19190 esv1204619 6 160268781 160268781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272202 S 2 1 0 "" HuRef nsv5564 6 160284711 160317291 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2623 S 9 1 0 IGF2R NA18555 dgv2024e1 6 160292234 161154655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2852,essv3847,esv738 M 271 0 0 IGF2R,LOC729603,LPA,LPAL2,PLG,SLC22A1,SLC22A2,SLC22A3 NA18953 esv35098 6 160342579 160990860 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980105,essv6990444,essv6980106,essv6987005,essv6987004 M 771 1 0 IGF2R,LOC729603,LPA,LPAL2,SLC22A1,SLC22A2,SLC22A3 NA18953 nsv818463 6 160355559 160945537 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417459 S 112 1 0 IGF2R,LOC729603,LPA,LPAL2,SLC22A1,SLC22A2,SLC22A3 NA18953 esv28288 6 160363657 160365873 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14816 S 451 0 1 IGF2R NA19108 esv1551954 6 160404015 160404015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745085 S 2 1 0 IGF2R HuRef esv1707140 6 160412284 160412338 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3895443 S 2 0 1 IGF2R HuRef esv1004150 6 160413658 160419699 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564011 S 3 0 1 IGF2R HuRef esv23071 6 160431936 160432431 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17951 S 451 0 1 IGF2R NA19114 esv23905 6 160465907 160473003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13999 S 451 0 1 SLC22A1 NA18511 esv1157586 6 160467233 160467890 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629428 S 2 0 1 SLC22A1 HuRef nsv886807 6 160469070 160479224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507155 S 6533 0 1 SLC22A1 SP54480 esv33283 6 160477307 160480893 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98664 S 51 1 0 SLC22A1 21606 esv2490070 6 160509565 160511066 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339837 S 1 0 1 "" NA18507 esv1004014 6 160510748 160514850 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565505 S 3 1 0 "" HuRef nsv509159 6 160518881 160593571 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618060,nssv620864 M 4 2 0 SLC22A2 CHM,NA15510 nsv886808 6 160545968 160572919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562498 S 6533 0 1 SLC22A2 MS25617 esv2421683 6 160548895 160558066 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5063343,essv5155910,essv5143871,essv5041347,essv5003951,essv5036758,essv5061230,essv5032578,essv5132067,essv5087087,essv5158450,essv5019869,essv5007617,essv5030774,essv5123797,essv5151512,essv5039685,essv5155585,essv5114788,essv5144936,essv5025963,essv5006575,essv5089183,essv5133421,essv5038118,essv5015342,essv5104273,essv5030128,essv5091877,essv5048344,essv5060706,essv5027323,essv5111988,essv5068365 M 1184 0 34 SLC22A2 NA18510,NA18923,NA18925,NA19035,NA19041,NA19044,NA19096,NA19226,NA19318,NA19373,NA19391,NA19404,NA19431,NA19468,NA19819,NA20332,NA20333,NA20773,NA21307,NA21308,NA21309,NA21317,NA21352,NA21363,NA21403,NA21436,NA21473,NA21517,NA21527,NA21574,NA21580,NA21583,NA21632,NA21723 nsv520963 6 160557229 160558066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678874,nssv689591 M 2026 0 2 SLC22A2 esv2433457 6 160560121 160560321 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251751 S 1 0 1 SLC22A2 NA18507 esv23439 6 160569977 160574836 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15630 S 451 0 1 SLC22A2 NA19114 dgv7013n71 6 160590484 160990980 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886812,nsv886811,nsv886809 M 6533 3 0 LPA,LPAL2,SLC22A2,SLC22A3 IS41807,MS10061,MS11981 esv271186 6 160618186 160618319 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501085,essv2494676,essv2513407,essv2495634,essv2497691 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18519,NA18907,NA18916,NA19147 nsv7984 6 160618591 160633940 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14865 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 dgv397n21 6 160620759 160625144 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520571,nsv525016 M 2026 0 4 "" nsv886810 6 160620759 160817862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538042 S 6533 1 0 LPAL2,SLC22A3 MS13461 nsv7985 6 160635420 160657745 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14394,nssv17640,nssv13601,nssv14725 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA18975,NA18980,NA19221 esv2426424 6 160639725 160640725 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206586 S 1 1 0 "" NA18507 essv6642 6 160692888 160999788 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LPA,LPAL2,SLC22A3 NA18621 essv24539 6 160692890 160695568 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SLC22A3 NA11831 nsv886813 6 160797630 160860110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553661,nssv1579759 M 6533 0 2 LPAL2 IS35179,MS20237 nsv512898 6 160797746 160797872 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625543 S 1 1 0 "" 1 esv6519 6 160797761 160876036 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28960 S 1 0 1 LPA,LPAL2 SJK esv1773849 6 160797814 160797814 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078679 S 2 1 0 "" HuRef esv5050 6 160798000 160876506 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27491 S 1 1 0 Single Asian sample YH LPA,LPAL2 YH nsv525990 6 160823612 160890953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702212 S 2026 0 1 LPA,LPAL2 nsv5566 6 160825945 160859368 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8319 S 9 1 0 LPAL2 NA12156 esv8214 6 160835989 160840083 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30655 S 1 0 1 LPAL2 SJK nsv349217 6 160848383 160848383 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367795 M 24 LPAL2 esv1960835 6 160848898 160849600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825206 S 1 0 1 LPAL2 NA18507 dgv2025e1 6 160852971 160999788 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3285,essv24482,essv9977,essv24853,essv21301,essv22661,essv24400,essv19581,essv13792,essv295,essv18234,essv7098,essv23852,essv2775,essv6390,essv2614,essv11984,essv15079,essv3883,essv10810,essv1756,essv559,essv2435,essv20602,essv22,essv4182,essv2510,essv3543,essv24293,essv3172,essv23246,essv6126,essv22116,essv1511,essv16879,essv15240,essv4860,essv3715,essv4561,essv8101,essv8289,essv4705,essv18635,essv5920,essv4956,essv24795,essv9250,essv24006,essv17528,essv5087,essv1440,essv21765,essv8811,essv7815,essv9587,essv21664,essv1393,essv5029,essv19611,essv21550,essv15733,essv6738,essv22742,essv15574,essv15468,essv7230,essv18389,essv5354,essv15420,essv14162,essv5827,essv16700,essv1242,essv22895,essv20115,essv20244,essv13170,essv5568,essv18825,essv3105,essv11690,essv1616,essv7757,essv4242,essv16446,essv16026,essv11131,essv12344,essv22544,essv20193,essv8916,essv3797,essv20403,essv9012,essv4035,essv3036,essv23768,essv639,essv14708,essv23355,essv1853,essv6252,essv13643,essv15901,essv20043,essv11583,essv12584,essv13092,essv4171,essv20940,essv24499,essv6013,essv4614,essv23069,essv2333,essv7594,essv7709,essv19271,essv19899,essv8344,essv4431,essv23567,essv23912,essv12987,essv24599,essv5747,essv5138,essv24976,essv18103,essv21125,essv21862,essv15356,essv10411,essv9765,essv8203,essv18352,essv17109,essv14982,essv19090,essv22317,essv10820,essv16771,essv17084,essv19198,essv15643,essv21236,essv17725,essv7283,essv6949,essv17598,essv12696,essv5498,essv9726,essv18745,essv14851,essv4436,essv9467,essv6299,essv18311,essv24723,essv10620,essv17922,essv22943,essv3399,essv21342,essv22838,essv24146,essv23141,essv2067,essv20657,essv7386,essv6913,essv11269,essv13521,essv19012,essv1177,essv22098,essv496,essv5193,essv14094,essv781,essv21058,essv5247,essv7030,essv6826,essv1966,essv16218,essv19779,essv17765,essv2218,essv869,essv12474,essv7345,essv3766,essv1124,essv17447,essv23407,essv2650,essv16140,essv10130,essv4011,essv415 M 271 0 0 LPA NA06985,NA06991,NA06993,NA07000,NA07019,NA07022,NA07029,NA07048,NA07055,NA07056,NA07345,NA07348,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10854,NA10855,NA10856,NA10857,NA10860,NA11829,NA11830,NA11832,NA11839,NA11992,NA11993,NA11994,NA12003,NA12004,NA12005,NA12043,NA12056,NA12057,NA12144,NA12154,NA12155,NA12234,NA12239,NA12248,NA12249,NA12707,NA12716,NA12750,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18505,NA18508,NA18517,NA18522,NA18523,NA18524,NA18526,NA18529,NA18532,NA18537,NA18540,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18609,NA18611,NA18612,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18855,NA18858,NA18859,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18969,NA18970,NA18971,NA18972,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19007,NA19012,NA19094,NA19098,NA19099,NA19100,NA19102,NA19103,NA19116,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19200,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19211,NA19222,NA19223 nsv428155 6 160857306 160999788 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450874,nssv450861,nssv450872,nssv450880,nssv450865,nssv450871,nssv450881,nssv450869,nssv450878,nssv450862,nssv450882,nssv450867,nssv450879,nssv450876,nssv450868,nssv450870,nssv450866,nssv450877,nssv450863,nssv450873 M 62 20 0 LPA HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA19108,NA19147,NA19189,NA19225,NA19257 nsv886814 6 160890953 161001321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563383 S 6533 1 0 LPA MS25976 nsv830852 6 160912548 160985930 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445755,nssv1445754,nssv1445753,nssv1445752,nssv1445749,nssv1445756,nssv1445777,nssv1445758,nssv1445757,nssv1445760,nssv1445761,nssv1445759,nssv1445764,nssv1445778,nssv1445763,nssv1445767,nssv1445766,nssv1445765,nssv1445776,nssv1445775,nssv1445770,nssv1445769,nssv1445768,nssv1445772,nssv1445750,nssv1445771,nssv1445774,nssv1445780,nssv1445786,nssv1445779,nssv1445785,nssv1445781,nssv1445783,nssv1445782 M 95 0 34 LPA nsv5567 6 160916896 161004649 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv596,nssv2624,nssv10524,nssv6101 M 9 0 4 LPA NA12156,NA18555,NA18956,NA19240 esv2750777 6 160930812 160941931 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93678 S 51 0 1 LPA 21972 nsv290 6 160931064 160956954 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv290 S 1 1 0 LPA NA15510 nsv5568 6 160931064 160956954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11138 S 9 1 0 LPA NA15510 nsv823905 6 160936851 160990675 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435149,nssv1423468,nssv1432926,nssv1433385,nssv1429877,nssv1439731,nssv1430642,nssv1422663,nssv1432114,nssv1440563,nssv1424270,nssv1437483,nssv1429132,nssv1425046,nssv1431379,nssv1428350,nssv1426737,nssv1435922,nssv1433713,nssv1427543,nssv1427225,nssv1425824,nssv1434475,nssv1438895 M 31 24 0 LPA AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18972,NA18973,NA18999 nsv509160 6 160938773 160995705 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623489,nssv619460,nssv620865 M 4 3 0 LPA NA10860,NA15510,NA18994 nsv515029 6 160939664 160991504 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627044 S 1414 0 0 LPA nsv471501 6 160945580 160989129 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547846,nssv547847,nssv547844 M 3 LPA esv28656 6 160945968 160989821 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13232 S 451 33 1 LPA NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv7986 6 160947044 161001661 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13631,nssv13669,nssv15286,nssv14895,nssv17670,nssv15123,nssv15269,nssv14627,nssv17504,nssv17213,nssv14454,nssv14362,nssv15064,nssv13990,nssv14815,nssv15078,nssv16911,nssv14827,nssv14726,nssv15848,nssv15818,nssv14597,nssv16857,nssv14555 M 31 22 0 Samples from several populations that are part of the HapMap project. LPA NA07048,NA10839,NA10847,NA11830,NA12155,NA12802,NA12872,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19221 dgv127n17 6 160951708 160991202 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437527,nsv437528 M 60 0 2 LPA NA18860,NA19208 esv33502 6 160951965 160975908 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100241 S 51 0 1 LPA 22286 esv2530911 6 160952447 160975825 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367223 S 1 0 1 LPA NA18507 nsv5569 6 160960906 160961891 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6102 S 9 1 0 LPA NA12156 nsv348956 6 160973046 160978566 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367534 M 24 LPA nsv5570 6 160978673 160984858 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10525 S 9 1 0 LPA NA18956 nsv5571 6 161066180 161067128 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8320 S 9 1 0 PLG NA12156 esv259630 6 161069255 161069508 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394094,essv2393799,essv2393715,essv2394022,essv2394333 M 6 0 0 Samples from several populations that are part of the HapMap project. PLG NA12878,NA12892,NA19238,NA19239,NA19240 esv260008 6 161069273 161069527 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394740,essv2397280,essv2396944,essv2396502,essv2400416,essv2399431,essv2399519,essv2396380,essv2399682,essv2395970,essv2397095,essv2400468 M 144 0 0 Samples from several populations that are part of the HapMap project. PLG NA07357,NA12878,NA12892,NA18517,NA18592,NA18858,NA19137,NA19138,NA19210,NA19238,NA19239,NA19240 esv1302715 6 161069411 161069411 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4216589 S 2 1 0 PLG HuRef nsv522773 6 161072439 161090825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698414 S 2026 0 1 PLG nsv522424 6 161082396 161090825 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705777 S 2026 0 1 PLG nsv7987 6 161095182 161096640 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14020,nssv14925 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA18537 nsv5572 6 161097690 161102830 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv597 S 9 1 0 "" NA19240 nsv830853 6 161099995 161296471 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445787 S 95 0 1 "" nsv5573 6 161109451 161138309 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6103,nssv598,nssv2625 M 9 3 0 "" NA12156,NA18555,NA19240 esv987990 6 161126326 161126939 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565124 S 3 1 0 "" HuRef nsv509161 6 161126631 161126631 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620866 S 4 1 0 "" NA15510 esv1579505 6 161126718 161126718 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893839 S 2 1 0 "" HuRef nsv499538 6 161126812 161126940 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586506 S 9 1 0 "" esv1202377 6 161126940 161126940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691852 S 2 1 0 "" HuRef esv2422347 6 161131161 161362367 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161504 S 181 1 0 MAP3K4 ND01577 nsv886815 6 161133037 161178648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546150 S 6533 0 1 "" MS17114 nsv509162 6 161134307 161134307 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623490 S 4 1 0 "" NA18994 nsv519976 6 161136598 161138641 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680941,nssv673803,nssv680004,nssv675571,nssv659842,nssv686233 M 2026 0 6 "" nsv886816 6 161145293 161206440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598221 S 6533 0 1 "" IS41043 dgv398n21 6 161150791 161180520 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523929,nsv521351 M 2026 0 2 "" nsv523015 6 161155700 161160831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698691 S 2026 0 1 "" nsv509163 6 161180834 161202538 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623491 S 4 1 0 "" NA18994 dgv1077n67 6 161181092 161199707 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823907,nsv823906 M 31 22 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK6,AK8,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 esv25231 6 161181092 161199707 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21310 S 451 2 3 "" NA06985,NA12044,NA12749,NA12828,NA18909 nsv511315 6 161181251 161200922 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625399 S 1 0 1 "" 1 nsv820357 6 161181402 161199403 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420612 S 1 1 0 "" NA10851 esv1010586 6 161182418 161182418 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569661 S 3 1 0 "" HuRef esv1127795 6 161182441 161182441 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307475 S 2 1 0 "" HuRef nsv823909 6 161189037 161192888 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424271 S 31 1 0 "" NA18582 esv1105319 6 161190888 161190888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699521 S 2 1 0 "" HuRef esv7057 6 161192870 161192949 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29498 S 1 1 0 "" SJK esv1566740 6 161192874 161192874 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639263 S 2 1 0 "" HuRef esv3243 6 161194214 161194719 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25684 S 1 0 1 Single Asian sample YH "" YH esv1736109 6 161194558 161194558 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173889 S 2 1 0 "" HuRef esv1063679 6 161194580 161194580 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109762 S 2 1 0 "" HuRef esv5202 6 161195263 161195905 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27643 S 1 0 1 Single Asian sample YH "" YH esv5570 6 161196971 161197053 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28011 S 1 1 0 "" SJK esv1754002 6 161198501 161198501 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083856 S 2 1 0 "" HuRef esv1732770 6 161198520 161198520 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340593 S 2 1 0 "" HuRef esv269010 6 161256408 161256755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514794,essv2515772,essv2516053,essv2513811 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12815,NA12873,NA19143 nsv349125 6 161284220 161293025 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367703 M 24 "" nsv886817 6 161291611 161766644 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558262 S 6533 1 0 AGPAT4,AGPAT4-IT1,MAP3K4,PARK2 MS23184 esv2287098 6 161431254 161431660 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502514 S 1 0 1 MAP3K4 NA18507 esv5229 6 161431373 161431953 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27670 S 1 0 1 Single Asian sample YH MAP3K4 YH esv1022211 6 161431629 161431819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130082 S 2 0 1 MAP3K4 HuRef esv1009798 6 161431634 161431823 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573151 S 3 0 1 MAP3K4 HuRef nsv526643 6 161479030 161481246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702969 S 2026 0 1 AGPAT4 nsv527098 6 161479030 161485148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703477 S 2026 0 1 AGPAT4 esv27949 6 161486060 161487408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17820 S 451 0 2 AGPAT4 NA18505,NA18916 nsv528938 6 161500522 161504373 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705629 S 2026 0 1 AGPAT4,AGPAT4-IT1 esv2752091 6 161512090 161775775 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983744,essv6983745,essv6988707,essv6986498,essv6986497,essv6983743 M 771 1 0 AGPAT4,PARK2 BEC_620 nsv5574 6 161516807 161550117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4952 S 9 1 0 AGPAT4 NA19129 esv33824 6 161523126 161528895 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98906,essv100737,essv100004,essv99418 M 51 3 1 AGPAT4 21606,21656,22086,22335 nsv5575 6 161531574 161563469 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8321 S 9 0 1 AGPAT4 NA12156 nsv886818 6 161549313 161643695 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566920 S 6533 1 0 AGPAT4 IS30993 nsv520807 6 161571993 161572693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697623 S 2026 0 1 AGPAT4 esv272350 6 161572364 161572655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580578 S 7 1 0 Samples from several populations that are part of the HapMap project. AGPAT4 NA19238 esv2311013 6 161603931 161604340 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880086 S 1 0 1 AGPAT4 NA18507 esv1221310 6 161604127 161604229 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737637 S 2 0 1 AGPAT4 HuRef nsv349803 6 161606367 161606367 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368381 M 24 AGPAT4 nsv507371 6 161608317 161614317 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617728 S 4 1 0 AGPAT4 CHM nsv886819 6 161632025 162440123 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545676 S 6533 1 0 PARK2 MS16898 nsv886820 6 161632870 162104922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554674 S 6533 1 0 PARK2 MS20885 nsv820100 6 161646148 161648217 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419378 S 2 1 0 "" AK1 esv27206 6 161646237 161648784 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13692,esv15011,esv11242,esv16496 M 451 19 0 "" NA07045,NA11894,NA11931,NA11995,NA12006,NA12239,NA12287,NA12749,NA12776,NA18502,NA18505,NA18858,NA18907,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv823910 6 161646237 161648784 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435150,nssv1432115 M 31 0 2 "" AK20,NA18942 nsv821549 6 161646683 161647894 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420614 S 1 0 1 "" NA10851 nsv830854 6 161659916 161847505 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445788 S 95 1 0 PARK2 esv267767 6 161662084 161662266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514650 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv526663 6 161666140 161671020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702991 S 2026 0 1 "" nsv5577 6 161695016 161739723 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8322 S 9 0 1 PARK2 NA12156 nsv518931 6 161713309 162326325 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696397 S 2026 1 0 PARK2 esv23877 6 161731866 161734797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19136 S 451 0 2 PARK2 NA18907,NA19190 nsv519391 6 161732616 161734897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696829 S 2026 0 1 PARK2 nsv886821 6 161732616 161779618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578559 S 6533 0 1 PARK2 IS34805 nsv520078 6 161734897 161780000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660546,nssv673608 M 2026 0 2 PARK2 esv2492646 6 161776612 161777616 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232276 S 1 1 0 PARK2 NA18507 nsv886822 6 161811378 161878888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581342 S 6533 0 1 PARK2 IS35571 dgv7014n71 6 161811378 161902978 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886824,nsv886823 M 6533 2 0 PARK2 MS10061,MS13461 nsv886825 6 161811378 162104922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563384,nssv1535054 M 6533 2 0 PARK2 MS11981,MS25976 dgv2026e1 6 161855666 161856699 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17418,esv1362 M 271 0 0 PARK2 NA12760 nsv464088 6 161882111 161921426 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540075 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00047 dgv7015n71 6 161952077 162104922 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886827,nsv886826 M 6533 2 0 PARK2 MS10061,MS13461 nsv464089 6 161962995 162021168 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540076 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00216 esv2422275 6 161969747 162122785 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161358 S 181 1 0 PARK2 ND05536 esv26577 6 161986915 161987580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12991 S 451 0 3 PARK2 NA11995,NA12006,NA18511 esv2267267 6 161996694 161997118 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558400 S 1 0 1 PARK2 NA18507 nsv886828 6 162001532 162013931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550643 S 6533 0 1 PARK2 MS18510 nsv516155 6 162012491 162015570 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677136,nssv666525 M 2026 0 2 PARK2 nsv5578 6 162048265 162106571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3486,nssv6104,nssv2742 M 9 3 0 PARK2 NA12156,NA12878,NA18555 esv23614 6 162057069 162057611 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14520 S 451 0 2 PARK2 NA18858,NA19129 nsv509164 6 162066277 162103651 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620867,nssv619461 M 4 2 0 PARK2 NA10860,NA15510 esv1926719 6 162070695 162071130 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705253 S 1 0 1 PARK2 NA18507 esv2567515 6 162070700 162072388 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256664 S 1 0 1 PARK2 NA18507 esv25242 6 162070835 162072534 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10121 S 451 0 1 PARK2 NA12828 esv2008419 6 162070981 162071794 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715512 S 1 0 1 PARK2 NA18507 nsv349534 6 162071169 162071637 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368112 M 24 PARK2 dgv7016n71 6 162082423 162194871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886830,nsv886829 M 6533 0 2 PARK2 IS37889,SP54405 nsv349740 6 162097495 162101246 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368318 M 24 PARK2 esv272342 6 162101217 162105236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580125,essv2580298,essv2580810,essv2578916,essv2579622 M 7 5 0 Samples from several populations that are part of the HapMap project. PARK2 NA12878,NA12891,NA19238,NA19239,NA19240 esv271382 6 162101217 162105276 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510287,essv2496662,essv2506763,essv2495455,essv2511384,essv2511168,essv2495274,essv2504444,essv2499361,essv2505110,essv2507964,essv2502317,essv2501656,essv2505531,essv2512266,essv2513140,essv2510332,essv2495917,essv2503441,essv2508571,essv2502499,essv2507716,essv2503822,essv2493478,essv2493334,essv2508910,essv2500340,essv2512480,essv2496865,essv2510516,essv2494140,essv2504245,essv2509896,essv2496521,essv2493663,essv2494883,essv2509123,essv2506097,essv2498322,essv2508754,essv2500389,essv2503363,essv2494559,essv2497154,essv2497773,essv2508255,essv2499875,essv2504515,essv2507934,essv2511306,essv2494420,essv2500107,essv2507627,essv2512736,essv2508449,essv2508625,essv2510034,essv2496135,essv2499250,essv2501552,essv2512911,essv2505379,essv2500972,essv2498403,essv2505814,essv2507062,essv2513297,essv2495601,essv2511656,essv2504918,essv2497947,essv2505481,essv2509385,essv2500488,essv2496027,essv2495153,essv2502612,essv2500714,essv2501327,essv2504879,essv2506840,essv2506633,essv2509492,essv2497464,essv2510440,essv2511943,essv2501786,essv2498132,essv2502003,essv2495756,essv2495061,essv2511493,essv2504389,essv2499503,essv2513122 M 157 95 0 Samples from several populations that are part of the HapMap project. PARK2 NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12144,NA12154,NA12155,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12878,NA12891,NA18489,NA18498,NA18501,NA18502,NA18505,NA18508,NA18510,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18907,NA18916,NA18940,NA18942,NA18945,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18973,NA19093,NA19099,NA19102,NA19108,NA19129,NA19147,NA19172,NA19238,NA19239,NA19240,NA19257 dgv2027e1 6 162110746 162331240 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv117,essv4780 M 271 0 0 PARK2 NA18620 nsv7988 6 162112533 162120802 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16887 S 31 0 1 Samples from several populations that are part of the HapMap project. PARK2 NA19132 nsv886831 6 162113475 162431244 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577813 S 6533 1 0 PARK2 IS34572 nsv886832 6 162116720 162208528 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540839 S 6533 1 0 PARK2 MS15050 nsv886833 6 162116720 162336195 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554675 S 6533 1 0 PARK2 MS20885 nsv523485 6 162129609 162674596 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699251 S 2026 0 1 PARK2 nsv886834 6 162143755 162447621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587735 S 6533 0 1 PARK2 IS38106 nsv886835 6 162143755 162636531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578296 S 6533 0 1 PARK2 IS34750 dgv7017n71 6 162154323 162230081 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886836,nsv886837 M 6533 2 0 PARK2 MS22322,SP57986 nsv437529 6 162174136 162190971 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467410 S 60 0 1 Samples from several populations that are part of the HapMap project. PARK2 NA18521 nsv437015 6 162176278 162184240 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466896 S 60 0 1 Samples from several populations that are part of the HapMap project. PARK2 NA07348 esv2752092 6 162190971 162234544 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980792,essv6987849 M 771 0 1 PARK2 BEC_158 esv268968 6 162209280 162209365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518957 S 157 1 0 Samples from several populations that are part of the HapMap project. PARK2 NA19141 esv1543709 6 162215484 162215484 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666464 S 2 1 0 PARK2 HuRef esv1371818 6 162215749 162215749 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104164 S 2 1 0 PARK2 HuRef nsv526090 6 162229114 162243987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702336 S 2026 0 1 PARK2 dgv7018n71 6 162230081 162431244 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886840,nsv886838 M 6533 0 2 PARK2 MS19486,MS24260 esv2152165 6 162236353 162236913 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498605 S 1 0 1 PARK2 NA18507 nsv886839 6 162237259 162269448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529247 S 6533 0 1 PARK2 SP81488 esv2752093 6 162241367 162629938 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983289,essv6986398,essv6988548,essv6982527,essv6982526 M 771 1 0 PARK2 BEC_563 nsv526031 6 162248263 162674596 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702262 S 2026 1 0 PARK2 nsv5579 6 162281676 162316164 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2743 S 9 1 0 PARK2 NA18555 nsv7989 6 162285242 162290152 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17700 S 31 0 1 Samples from several populations that are part of the HapMap project. PARK2 NA19221 nsv527260 6 162291695 162395424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703666 S 2026 0 1 PARK2 esv272416 6 162291919 162293261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580918,essv2579207 M 7 2 0 Samples from several populations that are part of the HapMap project. PARK2 NA19238,NA19239 esv271801 6 162291979 162293284 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500881,essv2513175,essv2503854,essv2502945,essv2509720,essv2499986,essv2508316,essv2508634,essv2496037,essv2501448,essv2499052,essv2509548,essv2496990,essv2512041,essv2501844,essv2503910,essv2513043 M 157 17 0 Samples from several populations that are part of the HapMap project. PARK2 NA07037,NA10847,NA11830,NA12249,NA12761,NA18507,NA18508,NA18558,NA18561,NA18592,NA18961,NA19093,NA19114,NA19129,NA19190,NA19238,NA19239 nsv5580 6 162293917 162323135 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8324 S 9 0 1 PARK2 NA12156 esv25032 6 162304836 162306517 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20728 S 451 0 1 PARK2 NA18907 nsv886841 6 162316649 162457856 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548470 S 6533 0 1 PARK2 MS17865 nsv526823 6 162336195 162360677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703179 S 2026 0 1 PARK2 nsv886842 6 162340536 162403944 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560566 S 6533 1 0 PARK2 MS24553 dgv7019n71 6 162357377 162403944 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886843,nsv886844 M 6533 2 0 PARK2 MS13219,MS17773 nsv886845 6 162364287 162461696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548364 S 6533 0 1 PARK2 MS17819 nsv886846 6 162370461 162433426 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577699 S 6533 1 0 PARK2 IS34526 nsv886847 6 162370461 162534963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567729 S 6533 0 1 PARK2 IS31144 nsv830855 6 162386115 162577526 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445789 S 95 0 1 PARK2 nsv464090 6 162395424 162450060 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540077 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00402 nsv517562 6 162401450 163169635 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694510,nssv699368,nssv701835,nssv702161,nssv679651,nssv658775,nssv670920,nssv691035,nssv658001,nssv695018,nssv696388,nssv705241,nssv664810,nssv681559,nssv666658,nssv690901,nssv684771,nssv682051,nssv700972,nssv652516,nssv691949,nssv686148,nssv672746,nssv681878,nssv654165,nssv658683,nssv662346,nssv697286,nssv700528,nssv691881,nssv699285,nssv667863,nssv686795,nssv660963,nssv656866,nssv705016,nssv656620,nssv696643,nssv699597,nssv675421,nssv653175,nssv685590,nssv684874,nssv694040,nssv701108,nssv699508,nssv655046,nssv659340,nssv668567,nssv657302,nssv656679,nssv705046,nssv654097,nssv660909,nssv690415,nssv652106,nssv686410,nssv698178,nssv658032,nssv683309 M 2026 5 55 PACRG,PARK2 nsv464091 6 162409523 162526335 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540078 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00556 nsv470868 6 162409523 162526335 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544739 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00556 dgv2028e1 6 162410928 162427680 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1280,essv12075 M 271 0 0 PARK2 NA19099 nsv7990 6 162415861 162427015 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17730,nssv15299 M 31 0 2 Samples from several populations that are part of the HapMap project. PARK2 NA19173,NA19221 nsv442018 6 162416281 162423724 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PARK2 esv2421772 6 162416281 162426558 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5065671,essv5130240,essv5161192,essv5106115,essv5065359,essv5051966,essv5156297,essv5089747,essv5067811,essv5142970,essv5098222,essv5130436,essv5143373,essv5091935 M 1184 0 14 PARK2 NA18518,NA18520,NA19099,NA19113,NA19115,NA19171,NA19173,NA19178,NA19204,NA19221,NA19223,NA19224,NA19225,NA19463 nsv514397 6 162416336 162421168 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627852 S 1414 0 1 PARK2 esv29030 6 162416355 162426966 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20993 S 451 0 2 PARK2 NA19099,NA19225 nsv818464 6 162419167 162426558 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416554,nssv1416555 M 112 0 2 PARK2 NA19171,NA19173 nsv886848 6 162419167 162709187 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600157 S 6533 0 1 PARK2 IS41852 esv2752094 6 162427579 162837667 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982991,essv6982994,essv6982993,essv6982992,essv6986316 M 771 1 0 PARK2 BEC_531 dgv26e196 6 162443825 162725790 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422334,esv2422322,esv2422289 M 181 3 0 PARK2 ND01583,ND04788,ND05093 nsv886849 6 162462074 162512797 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524702 S 6533 1 0 PARK2 SP55167 nsv886850 6 162466208 162670082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531444 S 6533 1 0 PARK2 MS10444 nsv464093 6 162485708 162863945 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540079 S 1557 1 0 PARK2 NINDS_225 nsv886851 6 162498511 162547280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556602 S 6533 0 1 PARK2 MS22104 nsv886852 6 162498511 162594083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589417 S 6533 0 1 PARK2 IS38351 esv26831 6 162498546 162500293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13807 S 451 0 1 PARK2 NA18517 esv2752095 6 162498782 162629938 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984750,essv6987669 M 771 1 0 PARK2 SPC_173 nsv511352 6 162502168 162507882 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625791 S 1 0 1 PARK2 1 nsv511921 6 162503562 162506988 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624458 S 1 0 1 PARK2 1 esv25373 6 162503730 162507147 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12291 S 451 0 6 PARK2 NA18508,NA18511,NA18909,NA19129,NA19147,NA19190 nsv823911 6 162503869 162506794 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440414 S 31 0 1 PARK2 NA18564 nsv886853 6 162506056 162566759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505663 S 6533 0 1 PARK2 SP53821 nsv886854 6 162512797 162530320 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573336 S 6533 0 1 PARK2 IS33292 dgv7020n71 6 162517942 162815742 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886855,nsv886859 M 6533 2 0 PARK2 IS34709,SP58373 nsv464094 6 162517942 163027087 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540080 S 1557 1 0 PARK2 1780854537_A nsv886856 6 162523308 162539976 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524703 S 6533 1 0 PARK2 SP55167 nsv886857 6 162531993 162629938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582717 S 6533 0 1 PARK2 IS36105 dgv7021n71 6 162531993 162943840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886860,nsv886872,nsv886858 M 6533 0 3 PARK2 MS13179,MS16032,MS18108 nsv886861 6 162552161 162719107 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594243 S 6533 1 0 PARK2 IS39722 nsv886862 6 162554327 162610624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520451 S 6533 0 1 PARK2 SP51067 nsv464097 6 162563417 162594083 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540082 S 1557 0 1 PARK2 1780862452_A nsv886863 6 162563417 162633417 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528703 S 6533 0 1 PARK2 SP81351 esv2752096 6 162563417 162819561 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984894,essv6988864,essv6987705,essv6984896,essv6984895 M 771 1 0 PARK2 SPC_19 dgv7022n71 6 162596554 162744619 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886866,nsv886864 M 6533 0 2 PARK2 IS30292,IS35519 nsv886865 6 162601734 162687672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600700 S 6533 0 1 PARK2 IS41918 nsv886867 6 162611408 162657207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545410 S 6533 0 1 PARK2 MS16783 dgv785n27 6 162611408 162964116 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464110,nsv464102,nsv464114,nsv464104,nsv464099 M 1557 5 0 PARK2 HGDP00192,HGDP01256,HGDP01277,NINDS_226,NINDS_39 nsv886868 6 162623409 162674596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557195 S 6533 0 1 PARK2 MS22492 dgv7023n71 6 162623409 162695845 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886870,nsv886875,nsv886869 M 6533 0 4 PARK2 MS18011,MS21214,MS21868,MS25092 nsv823912 6 162626004 162627212 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432116 S 31 0 1 PARK2 AK20 esv269845 6 162627199 162627328 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494239,essv2494691,essv2494026 M 157 3 0 Samples from several populations that are part of the HapMap project. PARK2 NA18502,NA18519,NA18871 esv2752097 6 162629579 162747454 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984085,essv6989411,essv6989911,essv6984086,essv6984087 M 771 0 1 PARK2 BEC_768 dgv7024n71 6 162629938 162755378 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886871,nsv886876 M 6533 0 2 PARK2 IS35940,SP52651 nsv470869 6 162629938 162893204 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544740,nssv544741 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP01256,HGDP01277 dgv786n27 6 162636531 162863051 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464103,nsv464105 M 1557 2 0 PARK2 1780854305_A,1782681296_A esv989831 6 162637222 162640474 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565010 S 3 1 0 PARK2 HuRef nsv886873 6 162637688 162712369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527882 S 6533 0 1 PARK2 SP81061 nsv886874 6 162644237 162670082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588927 S 6533 1 0 PARK2 IS38267 nsv511922 6 162644285 162645955 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624459 S 1 0 1 PARK2 1 esv2752098 6 162651333 162871579 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981880,essv6981881,essv6981882,essv6988461,essv6985688 M 771 1 0 PARK2 BEC_497 nsv464111 6 162652249 162865529 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540089 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP01397 nsv470870 6 162652249 162896029 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544742,nssv544744 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP01030,HGDP01397 nsv7993 6 162653715 162665543 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15138,nssv14955 M 31 0 2 Samples from several populations that are part of the HapMap project. PARK2 NA18537,NA18564 nsv823913 6 162654714 162661068 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439733,nssv1426739 M 31 0 2 PARK2 AK6,NA18537 nsv830856 6 162655237 162788414 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445790 S 95 1 0 PARK2 dgv2029e1 6 162655871 162659755 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4939,esv1104 M 271 0 0 PARK2 NA18537 nsv464112 6 162656326 162659755 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540090 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00961 nsv818465 6 162656326 162659755 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417121 S 112 0 1 PARK2 NA18537 esv2421399 6 162657207 162660430 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104945,essv5125999,essv5069580,essv5098460,essv5076235,essv5082353,essv5154177,essv5128219,essv5047588,essv5130551,essv5046225,essv5107673,essv5144322,essv5079013,essv5142744,essv5045052,essv5103154,essv5048189,essv5029298,essv5145718,essv5144045,essv5036000,essv5118085,essv5079824 M 1184 0 24 PARK2 NA18108,NA18117,NA18125,NA18141,NA18159,NA18534,NA18537,NA18564,NA18597,NA18602,NA18614,NA18626,NA18694,NA18696,NA18939,NA18949,NA18990,NA18991,NA18995,NA19070,NA19076,NA19448,NA20302,NA21573 nsv823914 6 162657978 162660231 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431381,nssv1437486,nssv1440415 M 31 0 3 PARK2 AK18,NA18564,NA18949 nsv819266 6 162658008 162660542 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419442 S 2 0 1 PARK2 AK1 nsv442019 6 162658558 162660430 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PARK2 essv2371 6 162658559 162659755 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PARK2 NA18995 nsv818466 6 162658695 162659755 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417385 S 112 0 1 PARK2 NA18949 esv2246800 6 162668429 162668849 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902134 S 1 0 1 PARK2 NA18507 dgv7025n71 6 162674596 162795696 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886877,nsv886880,nsv886879 M 6533 0 3 PARK2 IS32719,MS14309,SP54173 nsv886878 6 162677104 162761407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531445 S 6533 1 0 PARK2 MS10444 nsv464115 6 162698336 162728999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540092 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP01236 nsv886881 6 162719107 162823171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505350 S 6533 1 0 PARK2 SP53425 nsv886882 6 162722770 162795696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599916 S 6533 0 1 PARK2 IS41808 nsv886883 6 162724935 162943840 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556070 S 6533 0 1 PARK2 MS21780 nsv886884 6 162731892 162847793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527171 S 6533 0 1 PARK2 SP58209 nsv886885 6 162740072 162783468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519746 S 6533 0 1 PARK2 SP50540 esv35102 6 162747454 162977259 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986930,essv6986931,essv6979743,essv6979744,essv6979745 M 771 1 0 PARK2 NA18620 nsv886886 6 162748577 162767879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509223 S 6533 0 1 PARK2 SP54768 nsv886887 6 162755378 162804936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537523 S 6533 0 1 PARK2 MS13240 dgv2030e1 6 162760912 163153251 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7674,esv670,essv4765 M 271 0 0 PACRG,PARK2 NA18620 nsv464118 6 162761407 162834976 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540094 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP01375 nsv886888 6 162769931 162824155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542228 S 6533 0 1 PARK2 MS15715 nsv7994 6 162770688 162772916 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15811,nssv14720,nssv14392,nssv17534 M 31 0 4 Samples from several populations that are part of the HapMap project. PARK2 NA18517,NA18853,NA18942,NA19240 esv1995879 6 162772048 162772448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929184 S 1 0 1 PARK2 NA18507 nsv349169 6 162772211 162772283 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367747 M 24 PARK2 dgv7026n71 6 162789187 162960472 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886900,nsv886889 M 6533 0 2 PARK2 MS17522,SP81080 esv2624127 6 162790766 162791763 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330101 S 1 1 0 PARK2 NA18507 dgv7027n71 6 162791185 163204028 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886890,nsv886905 M 6533 2 0 PACRG,PARK2 IS40130,SP58373 nsv886891 6 162791913 162808512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583056 S 6533 0 1 PARK2 IS36244 nsv886892 6 162796195 162866687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531446 S 6533 1 0 PARK2 MS10444 nsv464119 6 162798397 162829925 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540095 S 1557 0 1 PARK2 NINDS_27 nsv510060 6 162798519 162804519 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621299,nssv624019 M 4 0 2 PARK2 NA15510,NA18994 dgv7028n71 6 162798684 162877085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886896,nsv886894,nsv886893 M 6533 0 3 PARK2 IS30171,SP55121,SP55542 nsv464120 6 162803474 162846071 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540096 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00151 dgv7029n71 6 162806676 162852454 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886895,nsv886897 M 6533 0 2 PARK2 IS33590,MS19941 dgv7030n71 6 162809965 162921073 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886898,nsv886902,nsv886899 M 6533 0 3 PARK2 MS12466,MS21397,SP54990 nsv886901 6 162824155 162863051 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528929 S 6533 0 1 PARK2 SP81399 dgv787n27 6 162834976 162896029 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464122,nsv464121 M 1557 0 2 PARK2 HGDP01030,NINDS_181 nsv7995 6 162836701 162846852 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17564,nssv15153,nssv13661,nssv15124 M 31 0 4 Samples from several populations that are part of the HapMap project. PARK2 NA07048,NA10839,NA12872,NA18517 nsv886903 6 162837932 162960472 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584476 S 6533 1 0 PARK2 IS37043 nsv886904 6 162840363 162882818 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505351 S 6533 1 0 PARK2 SP53425 nsv886906 6 162866687 162895865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594244 S 6533 1 0 PARK2 IS39722 nsv886907 6 162866687 162921073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555697 S 6533 0 1 PARK2 MS21517 dgv7031n71 6 162891176 162943840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886908,nsv886910,nsv886909 M 6533 0 4 PARK2 MS14361,MS15997,MS18400,MS21242 nsv886911 6 162912694 163014913 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594245 S 6533 1 0 PARK2 IS39722 esv271159 6 162933807 162933892 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515162,essv2518067 M 157 2 0 Samples from several populations that are part of the HapMap project. PARK2 NA12812,NA12872 nsv464124 6 162943840 163033492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540099 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PARK2 HGDP00674 nsv830857 6 162984801 163165803 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445796,nssv1445793,nssv1445792,nssv1445791,nssv1445794 M 95 0 5 PACRG,PARK2 nsv886912 6 162985009 163152322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516368 S 6533 0 1 PACRG,PARK2 SP56816 esv5727 6 163000049 163000127 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28168 S 1 1 0 PARK2 SJK nsv886913 6 163001802 163069487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587407 S 6533 0 1 PACRG,PARK2 IS38047 nsv886914 6 163062262 163202057 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504040 S 6533 1 0 PACRG,PARK2 SP52165 esv270275 6 163110339 163110672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523231,essv2548204,essv2550529,essv2535119,essv2520400,essv2547300,essv2559735,essv2540066,essv2520892,essv2578828,essv2539099,essv2541264,essv2543478,essv2556280,essv2538706,essv2524039,essv2524860,essv2563284,essv2558196 M 157 19 0 Samples from several populations that are part of the HapMap project. PACRG NA07357,NA10847,NA10851,NA12004,NA12045,NA12155,NA12249,NA12716,NA12717,NA12776,NA18489,NA18498,NA18510,NA18519,NA18545,NA18870,NA18871,NA19108,NA19129 nsv521563 6 163168579 163225416 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698179 S 2026 1 0 PACRG nsv886915 6 163170768 163209057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524787 S 6533 0 1 PACRG SP55290 nsv886916 6 163232835 163330175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518863 S 6533 1 0 PACRG SP58373 nsv349630 6 163234087 163234087 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368208 M 24 PACRG nsv349311 6 163234091 163234091 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367889 M 24 PACRG nsv464126 6 163281186 163352354 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540100 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PACRG HGDP00251 esv267850 6 163387354 163387711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519280,essv2516565,essv2515598,essv2514244,essv2516252,essv2517372,essv2515238,essv2518950,essv2518217,essv2513683 M 157 10 0 Samples from several populations that are part of the HapMap project. PACRG NA07347,NA11894,NA12814,NA12815,NA12874,NA12891,NA18970,NA19238,NA19239,NA19240 esv272548 6 163387359 163387706 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582259,essv2583146,essv2584006,essv2583464 M 7 4 0 Samples from several populations that are part of the HapMap project. PACRG NA12878,NA12892,NA19238,NA19240 nsv886917 6 163427041 163493952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518864 S 6533 1 0 PACRG SP58373 nsv886918 6 163464695 163476188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531407 S 6533 0 1 PACRG MS10441 nsv520096 6 163512244 163517093 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697221 S 2026 0 1 PACRG esv275472 6 163539896 163543609 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585844 S 1250 0 1 PACRG nsv522316 6 163548913 163551648 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695096 S 2026 0 1 PACRG esv1009462 6 163571753 163571753 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576149 S 3 1 0 PACRG HuRef esv1778979 6 163571794 163571794 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211985 S 2 1 0 PACRG HuRef esv267634 6 163573467 163577702 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515875 S 157 1 0 Samples from several populations that are part of the HapMap project. PACRG NA12873 esv1529490 6 163612359 163612359 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922095 S 2 1 0 PACRG HuRef nsv509165 6 163636089 163712539 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619462 S 4 1 0 DKFZp451B082,LOC285796,PACRG NA10860 esv268383 6 163662361 163662724 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510553,essv2504280,essv2493742,essv2494913,essv2512993,essv2497223,essv2511309,essv2497666,essv2512112,essv2498238,essv2503672 M 157 11 0 Samples from several populations that are part of the HapMap project. LOC285796 NA06986,NA18501,NA18505,NA18517,NA18520,NA18547,NA18552,NA18570,NA19147,NA19238,NA19240 esv272945 6 163662371 163662697 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581830,essv2582614,essv2582888,essv2584190,essv2584835,essv2583450 M 7 6 0 Samples from several populations that are part of the HapMap project. LOC285796 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv3390 6 163663920 163664242 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25831 S 1 0 1 Single Asian sample YH LOC285796 YH esv1005190 6 163667939 163668066 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577533 S 3 0 1 "" HuRef esv1040144 6 163668030 163668158 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814840 S 2 0 1 "" HuRef esv26314 6 163670275 163670840 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13148 S 451 0 3 "" NA11894,NA12749,NA18502 esv1426210 6 163670368 163670368 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254328 S 2 1 0 "" HuRef esv1312951 6 163670531 163670531 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729184 S 2 1 0 "" HuRef esv25660 6 163675125 163675850 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18186 S 451 0 1 "" NA18505 esv27114 6 163696740 163697735 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11561 S 451 0 1 "" NA18511 esv2572541 6 163733730 163734772 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317324 S 1 1 0 "" NA18507 esv270737 6 163734165 163734521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514577,essv2517110,essv2518718,essv2518641,essv2516388,essv2515643,essv2516106,essv2514446,essv2517582,essv2516201,essv2517211,essv2519118,essv2515225,essv2518946,essv2518424,essv2513582 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11931,NA12045,NA12287,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA18970,NA19141,NA19238,NA19239,NA19240 esv274406 6 163734176 163734522 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582442,essv2584219,essv2584519,essv2583314 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239,NA19240 esv1691420 6 163734220 163734220 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977733 S 2 1 0 "" HuRef esv26812 6 163754581 163756750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11489 S 451 0 1 CAHM,QKI NA07045 nsv523664 6 163778227 163827875 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699465 S 2026 1 0 QKI esv2750737 6 163830220 163830944 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96024 S 51 0 1 QKI 22127 nsv524205 6 163839507 163858321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700091 S 2026 0 1 QKI dgv2031e1 6 163912054 164081893 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv439,essv18696 M 271 0 0 QKI NA12874 esv2573369 6 163934412 163935874 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389647 S 1 0 1 "" NA18507 nsv523059 6 163947534 163947748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698743 S 2026 0 1 "" esv992101 6 163952673 163952740 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578858 S 3 0 1 "" HuRef esv2293152 6 163954765 163955211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853953 S 1 0 1 "" NA18507 esv1010889 6 163954944 163955000 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580403 S 3 0 1 "" HuRef nsv349280 6 163954944 163955000 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367858 M 24 "" nsv5581 6 164068772 164077985 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2744 S 9 1 0 "" NA18555 esv273853 6 164081810 164082030 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580270,essv2580683,essv2578872 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19239 esv270024 6 164081868 164081997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510242,essv2510130,essv2506795,essv2495430,essv2495284,essv2504483,essv2499371,essv2502311,essv2500192,essv2499411,essv2505538,essv2513138,essv2510327,essv2503763,essv2493450,essv2493387,essv2504993,essv2500279,essv2496793,essv2511807,essv2494294,essv2502926,essv2494656,essv2494922,essv2506034,essv2498337,essv2500373,essv2512982,essv2494599,essv2497126,essv2497825,essv2499997,essv2508326,essv2504592,essv2511359,essv2494515,essv2508467,essv2508693,essv2496085,essv2501587,essv2512872,essv2507577,essv2505857,essv2507167,essv2509320,essv2511127,essv2497916,essv2503511,essv2502451,essv2512384,essv2493104,essv2505473,essv2509400,essv2495974,essv2495218,essv2502687,essv2500765,essv2512809,essv2505659,essv2501241,essv2506634,essv2499016,essv2509420,essv2493864,essv2499683,essv2512075,essv2501976,essv2502089,essv2503898,essv2495014,essv2511529 M 157 71 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07346,NA10851,NA11829,NA11918,NA11919,NA11992,NA11993,NA11994,NA12004,NA12006,NA12044,NA12154,NA12249,NA12414,NA12761,NA12763,NA12776,NA12828,NA12891,NA18498,NA18499,NA18502,NA18507,NA18519,NA18520,NA18523,NA18526,NA18537,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18570,NA18572,NA18582,NA18592,NA18603,NA18608,NA18609,NA18638,NA18861,NA18870,NA18909,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19108,NA19114,NA19129,NA19210,NA19225,NA19238,NA19239,NA19257 nsv520292 6 164094607 164110909 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697331 S 2026 1 0 "" esv1007018 6 164170798 164170905 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578109 S 3 0 1 "" HuRef nsv830858 6 164216044 164375733 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445797 S 95 1 0 "" esv27614 6 164273103 164274278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18178 S 451 0 1 "" NA18505 nsv349951 6 164284340 164284485 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368529 M 24 "" nsv5582 6 164310343 164325717 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8325 S 9 0 1 "" NA12156 nsv507372 6 164383665 164389665 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621865,nssv617729,nssv620364 M 4 3 0 "" CHM,NA10860,NA15510 esv1060559 6 164417701 164417849 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660169 S 2 0 1 "" HuRef nsv5583 6 164461413 164479505 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2627 S 9 0 1 "" NA18555 nsv435834 6 164462814 164469843 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466327 S 2 0 1 "" NA15510 nsv511923 6 164462960 164467193 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624460 S 1 0 1 "" 1 nsv819202 6 164462960 164468133 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419688 S 2 0 1 "" AK1 nsv823915 6 164462981 164466389 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435924 S 31 0 1 "" NA18566 nsv511318 6 164463228 164469702 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625432 S 1 0 1 "" 1 esv26578 6 164463229 164467413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13871 S 451 0 11 "" NA06985,NA11894,NA12004,NA12239,NA12414,NA12489,NA15510,NA19099,NA19147,NA19225,NA19240 esv7046 6 164463426 164467181 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29487 S 1 0 1 "" SJK nsv499575 6 164463436 164467182 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586011 S 9 0 1 "" nsv823916 6 164464364 164466389 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440416,nssv1423470,nssv1438217,nssv1439734,nssv1429880,nssv1426774,nssv1422666,nssv1424272,nssv1437487,nssv1429134,nssv1428353,nssv1426741,nssv1434477,nssv1432927,nssv1427237,nssv1438898 M 31 0 16 "" AK10,AK12,AK14,AK6,NA18537,NA18552,NA18564,NA18570,NA18582,NA18947,NA18949,NA18951,NA18968,NA18972,NA18973,NA18999 nsv514398 6 164464560 164466240 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627853 S 1414 0 1 "" nsv830860 6 164473604 164664181 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445799,nssv1445798,nssv1445800 M 95 1 2 "" nsv507373 6 164513472 164519472 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617730,nssv621866 M 4 2 0 "" CHM,NA10860 nsv528815 6 164549079 164551452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705489 S 2026 0 1 "" nsv348661 6 164669458 164671604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367239 M 24 "" nsv886919 6 164676354 164999824 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502660 S 6533 1 0 "" SP51309 nsv511924 6 164682169 164997389 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624461 S 1 0 1 "" 1 nsv886920 6 164850992 164900861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555302 S 6533 0 1 "" MS21258 esv274873 6 164865816 164870896 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586020 S 1250 0 1 "" nsv518738 6 164929466 164933885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696188 S 2026 0 1 "" nsv830861 6 164934465 165151194 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445802,nssv1445803,nssv1445801 M 95 0 3 "" nsv525815 6 164937863 165182885 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702000 S 2026 1 0 "" esv1172346 6 164969137 164969137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852741 S 2 1 0 "" HuRef nsv886921 6 165037385 165097303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505511 S 6533 1 0 "" SP53583 dgv7032n71 6 165037385 165128459 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886923,nsv886922,nsv886924 M 6533 10 0 "" SP51037,SP51290,SP52130,SP52298,SP54087,SP54935,SP55295,SP55647,SP56995,SP57970 dgv788n27 6 165050862 165109831 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464129,nsv464133,nsv464132 M 1557 3 0 "" HGDP00769,HGDP00876,HGDP01244 nsv470872 6 165050862 165128588 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544745 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00878 dgv789n27 6 165050862 165134005 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464131,nsv464130,nsv464134,nsv464135 M 1557 4 0 "" HGDP00125,HGDP00703,HGDP00861,HGDP00872 nsv830862 6 165052812 165231076 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445804,nssv1445805 M 95 0 2 "" nsv528060 6 165072064 165109831 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704594 S 2026 1 0 "" esv1175447 6 165078010 165078074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893451 S 2 0 1 "" HuRef nsv5584 6 165092364 165126251 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6105,nssv599,nssv9701,nssv4953,nssv2628,nssv10526,nssv3487 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv2483917 6 165106323 165107441 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308274 S 1 1 0 "" NA18507 esv267424 6 165106903 165107218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546299,essv2526028,essv2543944,essv2556804,essv2545462,essv2570706,essv2548500,essv2576692,essv2550386,essv2544532,essv2529273,essv2558584,essv2564426,essv2576257,essv2519999,essv2555171,essv2530717,essv2537453,essv2546883,essv2520823,essv2556865,essv2562711,essv2569294,essv2538908,essv2544953,essv2542857,essv2540602,essv2524333,essv2549371,essv2519648,essv2522286,essv2566325,essv2567723,essv2528745,essv2567353,essv2563719,essv2572195,essv2559329,essv2566801,essv2543555,essv2556290,essv2527782,essv2562509,essv2573101,essv2555401,essv2530016,essv2573821,essv2556073,essv2522444,essv2531562,essv2543052,essv2577099,essv2575137,essv2560528,essv2568827,essv2560269,essv2548061,essv2571381,essv2537956,essv2533070,essv2554704,essv2563537,essv2558063 M 157 63 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10847,NA10851,NA11881,NA11918,NA11992,NA11994,NA12003,NA12044,NA12045,NA12154,NA12234,NA12414,NA12749,NA12750,NA12751,NA12814,NA12815,NA12872,NA12873,NA12878,NA12892,NA18498,NA18501,NA18507,NA18508,NA18519,NA18526,NA18550,NA18552,NA18555,NA18564,NA18566,NA18571,NA18572,NA18577,NA18579,NA18582,NA18603,NA18609,NA18638,NA18853,NA18870,NA18871,NA18907,NA18909,NA18942,NA18943,NA18949,NA18951,NA18956,NA18960,NA18961,NA18965,NA18970,NA19102,NA19116,NA19147,NA19190,NA19210,NA19238 esv274404 6 165106903 165107218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583901,essv2583405 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv509166 6 165115183 165115183 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618061 S 4 1 0 "" CHM esv1266271 6 165116120 165116120 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884260 S 2 1 0 "" HuRef nsv509167 6 165121991 165121991 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620868 S 4 1 0 "" NA15510 esv23455 6 165140413 165158755 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12001 S 451 1 0 "" NA07037 esv26509 6 165189412 165193744 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11557 S 451 1 0 "" NA18907 nsv521153 6 165199383 165263547 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683109,nssv693520,nssv701001 M 2026 2 1 "" dgv7033n71 6 165239621 165625478 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886927,nsv886925 M 6533 2 0 C6orf118 MS15743,SP57950 esv2082279 6 165264101 165264567 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4817720 S 1 0 1 "" NA18507 nsv886926 6 165278260 165398041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584186,nssv1577125 M 6533 2 0 "" IS34360,IS36893 nsv519171 6 165284642 165289117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696653 S 2026 0 1 "" esv994019 6 165285060 165285666 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586460 S 3 1 0 "" HuRef esv26020 6 165326743 165336501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13480 S 451 0 1 "" NA12414 esv270299 6 165347387 165347735 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493148,essv2509808,essv2505176,essv2498385,essv2505943,essv2509289,essv2506586,essv2496929,essv2512100,essv2498231 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18508,NA18853,NA18858,NA18861,NA18909,NA19108,NA19190,NA19238,NA19240 esv272209 6 165347391 165347711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581902,essv2582474,essv2583997,essv2584829,essv2583527 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv272586 6 165359400 165359750 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581015 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270030 6 165359429 165359761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2554241,essv2520615,essv2578062,essv2544606,essv2540371,essv2539635,essv2560041,essv2566210,essv2531071,essv2567734,essv2541644,essv2569907,essv2543625,essv2527785,essv2578214,essv2555415,essv2555765,essv2567204,essv2522466,essv2573563,essv2543106,essv2571860,essv2526979,essv2529618,essv2574565,essv2571263,essv2533419,essv2563453 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA12287,NA12716,NA12761,NA18526,NA18552,NA18563,NA18570,NA18572,NA18573,NA18577,NA18592,NA18593,NA18870,NA18907,NA18940,NA18943,NA18945,NA18947,NA18960,NA18964,NA18965,NA18973,NA19005,NA19093,NA19138,NA19238 nsv5585 6 165474579 165508323 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8326 S 9 1 0 "" NA12156 esv6358 6 165588669 165588746 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28799 S 1 1 0 "" SJK nsv5586 6 165614438 165667207 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4954,nssv9702,nssv2629,nssv9436,nssv3488,nssv600 M 9 0 6 C6orf118,PDE10A NA12878,NA18507,NA18517,NA18555,NA19129,NA19240 nsv508438 6 165623345 165680639 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619985,nssv622562 M 4 0 2 C6orf118,PDE10A NA15510,NA18994 nsv886928 6 165642335 166117879 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542264 S 6533 1 0 C6orf118,PDE10A MS15743 esv2597748 6 165643794 165652640 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268783 S 1 0 1 "" NA18507 esv2547126 6 165644136 165652922 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309239 S 1 0 1 "" NA18507 nsv511925 6 165644354 165652653 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624462 S 1 0 1 "" 1 esv2378769 6 165644461 165652271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736901 S 1 0 1 "" NA18507 nsv436498 6 165644517 165652697 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466329 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv165e180 6 165644627 165652078 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988532,esv1002572 M 3 1 0 "" HuRef dgv1078n67 6 165644627 165652755 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823923,nsv823924,nsv823918,nsv823917,nsv823922 M 31 0 21 "" AK10,AK12,AK16,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18564,NA18566,NA18570,NA18592,NA18942,NA18949,NA18951,NA18972,NA18973,NA18997,NA18999 nsv820733 6 165644627 165652755 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420615 S 1 0 1 "" NA10851 nsv499503 6 165644656 165652125 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586012 S 9 0 1 "" esv24478 6 165644699 165651948 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16560 S 451 9 15 "" NA06985,NA11894,NA11931,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18907,NA18909,NA18916,NA19114,NA19129,NA19190 nsv514399 6 165644848 165651904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627854 S 1414 0 1 "" esv2421523 6 165647807 165651918 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5046543,essv5007918,essv5059673,essv5156163,essv5066045,essv5118650,essv5102905,essv5066914,essv5041927,essv5017560,essv5022237,essv5034416,essv5010284,essv5145609,essv5002718,essv5027567,essv5123537,essv5111767,essv5140990,essv5094270,essv5099091,essv5141478,essv5126680,essv5009213,essv5096332,essv5010169,essv5109984,essv5029257,essv5110214,essv5003921,essv5134229,essv5105405,essv5015002,essv5107030,essv5096646,essv5028654,essv5108901,essv5033020,essv5082735,essv5045533,essv5069993,essv5016381,essv5125886,essv5154361,essv5153030,essv5104124,essv5141082,essv5133490,essv5100132,essv5107989,essv5061474,essv5056904,essv5159056,essv5108096,essv5029232,essv5156922,essv5063726,essv5140737,essv5053400,essv5142998,essv5086481,essv5002409,essv5067162,essv5101811,essv5136905,essv5027204,essv5065651,essv5018591,essv5037143,essv5116992,essv5101379,essv5090355,essv5014135,essv5108936,essv5065533,essv5133361,essv5133916,essv5092307,essv5012746,essv5086027,essv5153630,essv5097903,essv5085600,essv5132983,essv5157675,essv5080850,essv5120696,essv5079886,essv5031468,essv5079389,essv5112043,essv5107073,essv5090300,essv5065730,essv5120969,essv5039949,essv5159874,essv5030139,essv5135194,essv5138630,essv5025527,essv5155483,essv5111570,essv5025508,essv5078107,essv5134218,essv5071205,essv5105567,essv5135106,essv5051490,essv5075012,essv5064481,essv5006038,essv5116838,essv5010371,essv5002451,essv5129262,essv5086240,essv5013660,essv5115512,essv5063735,essv5051892,essv5086195,essv5003654,essv5010981,essv5083255,essv5043577,essv5137587,essv5118441,essv5136354,essv5089312,essv5037500,essv5019137,essv5012170,essv5022396,essv5002830,essv5143208,essv5148213,essv5123919,essv5004600,essv5144931,essv5026621,essv5082920,essv5098533,essv5126622,essv5102978,essv5061393,essv5090383,essv5067451,essv5095369,essv5044547,essv5029881,essv5089530,essv5075066,essv5069090,essv5074911,essv5106579,essv5033249,essv5123997,essv5070881,essv5089839,essv5125492,essv5026107,essv5100754,essv5100977,essv5072935,essv5004125,essv5050462,essv5012223,essv5148049,essv5033114,essv5023118,essv5025997,essv5117399,essv5081684,essv5071408,essv5106701,essv5025123,essv5135346,essv5056152,essv5055970,essv5106758,essv5040971,essv5066513,essv5014061,essv5097415,essv5084225,essv5043729,essv5109817,essv5085705,essv5034153,essv5102822,essv5156157,essv5081093,essv5050497,essv5010291,essv5095490,essv5049720,essv5098992,essv5042335,essv5046972,essv5112021,essv5052346,essv5056324,essv5142545,essv5110489,essv5007042,essv5044238,essv5026428,essv5048087,essv5061780,essv5020588,essv5024287,essv5154534,essv5019545,essv5075168,essv5009711,essv5133692,essv5124880,essv5140686,essv5138664,essv5052859,essv5033304,essv5037217,essv5155661,essv5106824,essv5076481,essv5079005,essv5132496,essv5154954,essv5131320,essv5140673,essv5096755,essv5032149,essv5025474,essv5058465,essv5067536,essv5043407,essv5026931,essv5074755,essv5019113,essv5150225,essv5040001,essv5140905,essv5053184,essv5051167,essv5022058,essv5015008,essv5023442,essv5087256,essv5090328,essv5103728,essv5002521,essv5086945,essv5021098,essv5014170,essv5113221,essv5133724,essv5090605,essv5055076,essv5103750,essv5114643,essv5133742,essv5086665,essv5077677,essv5088876,essv5142793,essv5017914,essv5038221,essv5045023,essv5030186,essv5090392,essv5136780,essv5019726,essv5036747,essv5104982,essv5091163,essv5149601,essv5062213,essv5143594,essv5101065,essv5094356,essv5010607,essv5034360,essv5104418,essv5067954,essv5108699,essv5005773,essv5046668,essv5140567,essv5155440,essv5005974,essv5072277,essv5137632,essv5126943,essv5002915,essv5121944,essv5099333,essv5097657,essv5096963,essv5073706,essv5125238,essv5152121,essv5103848,essv5112525,essv5047580,essv5119104,essv5083362,essv5047597,essv5003902,essv5027998,essv5099896,essv5027400,essv5042724,essv5083445,essv5059681,essv5009399,essv5116698,essv5068233,essv5121019,essv5133326,essv5148992,essv5109796,essv5079645,essv5102081,essv5086455,essv5086179,essv5106402,essv5114102,essv5020740,essv5011471,essv5094768,essv5091705,essv5018499,essv5066704,essv5157318,essv5129031,essv5082800,essv5129894,essv5027682,essv5110632,essv5091151,essv5019702,essv5029405,essv5055867,essv5121256,essv5067262,essv5145902,essv5135361,essv5013093,essv5091202,essv5104748,essv5028092,essv5084557,essv5015675,essv5009639,essv5052037,essv5020009,essv5027277,essv5045786,essv5074706,essv5069776,essv5037402,essv5008740,essv5015534,essv5123576,essv5145873,essv5084865,essv5027373,essv5134276,essv5038382,essv5010830,essv5157380,essv5085602,essv5141373,essv5029280,essv5082845,essv5003903,essv5082782,essv5022961,essv5158931,essv5030181,essv5056918,essv5130186,essv5138949,essv5014153,essv5021396,essv5108328,essv5025008,essv5108274,essv5119334,essv5006172,essv5021150,essv5111939,essv5154497,essv5024951,essv5055738,essv5139072,essv5143754,essv5074647,essv5063278,essv5007278,essv5081468,essv5040795,essv5124817,essv5034114,essv5138669,essv5081196,essv5152322,essv5058494,essv5041504,essv5122885,essv5088090,essv5002997,essv5079991,essv5131939,essv5072154,essv5122791,essv5119942,essv5034848,essv5090149,essv5043782,essv5019938,essv5142186,essv5012976,essv5062560,essv5044328,essv5064221,essv5159562,essv5094357,essv5042754,essv5002710,essv5042636,essv5109735,essv5152932,essv5089515,essv5037436,essv5005947,essv5146793,essv5146085,essv5132874,essv5047386,essv5014734,essv5091569,essv5135305,essv5143779,essv5146841,essv5021149,essv5132318,essv5058071,essv5094147,essv5098063,essv5097058,essv5151137,essv5133828,essv5090656,essv5055963,essv5110221,essv5007305,essv5088266,essv5138773,essv5119578,essv5035626,essv5140182,essv5007242,essv5149670,essv5113153,essv5156794,essv5084828,essv5145532,essv5084093,essv5099616,essv5041758,essv5047043,essv5022035,essv5045096,essv5066040,essv5082214,essv5082285,essv5121432,essv5126020,essv5014457,essv5125052,essv5137072,essv5004176,essv5029383,essv5089876,essv5142123,essv5090236,essv5088036,essv5027517,essv5034560,essv5051484,essv5029027,essv5015375,essv5006260,essv5112324,essv5043308,essv5038150,essv5123190,essv5025319,essv5156685,essv5116022,essv5054605,essv5080458,essv5131341,essv5083338,essv5007204,essv5069308,essv5158810,essv5015816,essv5068830,essv5032245,essv5143909,essv5032599,essv5090516,essv5010318,essv5026527,essv5135046,essv5044583,essv5110145,essv5130987,essv5056611,essv5042047,essv5072651,essv5007447,essv5157833,essv5089391,essv5105228,essv5117690,essv5142941,essv5093691,essv5149710,essv5086568,essv5004847,essv5068609,essv5005445,essv5156234,essv5078467,essv5121043,essv5100816,essv5148509,essv5022520,essv5132079,essv5108820,essv5022379,essv5065747,essv5158762,essv5036241,essv5112298,essv5021092,essv5057085,essv5090792,essv5152023,essv5083475,essv5040728,essv5145203,essv5156767,essv5074174,essv5123026,essv5005366,essv5018870,essv5016631,essv5069636,essv5072229,essv5004126,essv5155609,essv5011630,essv5032954,essv5096782,essv5122847,essv5014106,essv5139892,essv5140266,essv5107421,essv5055181,essv5121103,essv5130615,essv5002595,essv5157444,essv5027735,essv5116316,essv5005441,essv5016024,essv5036429,essv5070840,essv5055215,essv5102122,essv5037941,essv5125986,essv5114177,essv5003073,essv5090882,essv5002257,essv5045733,essv5005396,essv5153001,essv5091127,essv5059073,essv5085286,essv5011555,essv5071132,essv5137531,essv5071435,essv5028329,essv5075251,essv5090814,essv5083410,essv5063638,essv5049862,essv5100814,essv5068386,essv5134701,essv5110216,essv5007737,essv5151024,essv5079269,essv5109862,essv5125751,essv5001900,essv5007793,essv5097820,essv5051901,essv5156901,essv5135399,essv5067685,essv5058086,essv5036180,essv5020607,essv5047183,essv5059009,essv5144832,essv5092719,essv5143566,essv5140373,essv5060699,essv5119191,essv5027552,essv5042367,essv5109504,essv5046178,essv5116484,essv5032570,essv5024950,essv5041988,essv5106807,essv5111748,essv5151230,essv5113540,essv5075480,essv5082631,essv5022250,essv5027314,essv5111131,essv5131343,essv5069539,essv5063470,essv5062487,essv5113208,essv5034808,essv5155690,essv5060383,essv5157050,essv5002931,essv5130564,essv5042116,essv5082749,essv5138730,essv5146154,essv5022183,essv5134975,essv5145801,essv5159484,essv5048333,essv5098135,essv5160191,essv5084986,essv5052357,essv5157870,essv5141610,essv5055434,essv5084997,essv5047013,essv5021615,essv5080966,essv5102534,essv5155448,essv5048817,essv5123164,essv5074650,essv5055818,essv5043567,essv5056312,essv5041112,essv5078305,essv5036904,essv5095961,essv5150162,essv5036713,essv5057484,essv5003868,essv5088771,essv5061564,essv5150054,essv5031127,essv5144230,essv5104809,essv5096729,essv5036969,essv5027508,essv5045149,essv5058229,essv5120189,essv5018415,essv5003473,essv5055155,essv5015096,essv5051652,essv5086377,essv5146140,essv5073187,essv5148111,essv5075925,essv5155817,essv5106889,essv5115395,essv5111978,essv5079550,essv5063829,essv5145876,essv5066421,essv5127598,essv5008233,essv5115472,essv5115060,essv5153681,essv5149145,essv5143633,essv5113691,essv5037542,essv5134108,essv5139605,essv5063575,essv5137173,essv5124855,essv5132941,essv5124169,essv5130852,essv5104973,essv5085161,essv5155542,essv5011566,essv5103635,essv5043181,essv5003308,essv5126654,essv5109214,essv5027287,essv5080781,essv5032315,essv5042314,essv5135018,essv5108693,essv5123130,essv5056814,essv5159972,essv5014787,essv5118333,essv5075081,essv5146015,essv5133332,essv5014079,essv5136789,essv5069533,essv5070490,essv5119921,essv5030193,essv5023947,essv5008785,essv5047285,essv5137873,essv5020769,essv5153081,essv5066662,essv5158493,essv5026219,essv5063273,essv5037807,essv5054389,essv5149978,essv5039441,essv5120277,essv5104956,essv5026877,essv5111946,essv5056640,essv5115951,essv5078391,essv5105584,essv5076657,essv5115708,essv5020964,essv5029516,essv5104386,essv5042060,essv5013435,essv5127629,essv5052412,essv5010995,essv5140392,essv5106026,essv5115536,essv5127941,essv5077659,essv5069652,essv5007201,essv5112886,essv5053565,essv5103449,essv5014839,essv5064269,essv5131207,essv5107625,essv5147301,essv5009066,essv5025342,essv5152915,essv5123533,essv5007113,essv5047102,essv5045013,essv5085853,essv5055134,essv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M 1184 0 929 "" 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NA20128,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20294,NA20295,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20350,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20506,NA20509,NA20510,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20538,NA20539,NA20540,NA20541,NA20543,NA20544,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20755,NA20758,NA20759,NA20760,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20786,NA20787,NA20792,NA20795,NA20796,NA20800,NA20801,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20845,NA20846,NA20847,NA20852,NA20858,NA20859,NA20870,NA20872,NA20876,NA20884,NA20885,NA20889,NA20890,NA20894,NA20897,NA20898,NA20899,NA20900,NA20903,NA20904,NA20906,NA20907,NA20910,NA21086,NA21088,NA21089,NA21090,NA21091,NA21098,NA21099,NA21101,NA21102,NA21103,NA21104,NA21113,NA21115,NA21116,NA21117,NA21119,NA21123,NA21125,NA21137,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21361,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21611,NA21613,NA21614,NA21616,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21825,NA21826 nsv441763 6 165647807 165651918 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv523973 6 165718953 165719604 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699826 S 2026 0 1 PDE10A nsv830863 6 165723454 165890081 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445807 S 95 1 0 PDE10A nsv510061 6 165724309 165730309 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624020 S 4 0 1 PDE10A NA18994 nsv522249 6 165733789 165734163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695029 S 2026 0 1 PDE10A dgv7034n71 6 165741392 165770470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886930,nsv886929 M 6533 0 2 PDE10A IS33864,IS35622 nsv464136 6 165757790 165782882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540109 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDE10A HGDP00521 nsv818468 6 165797421 165813337 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418156 S 112 1 0 PDE10A NA19144 dgv399n21 6 165797421 165829452 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv516359,nsv528284 M 2026 4 0 PDE10A dgv790n27 6 165830696 165866762 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464138,nsv464137 M 1557 0 2 PDE10A 1780862014_A,1782681169_A nsv5588 6 165839809 165873312 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4955 S 9 1 0 PDE10A NA19129 esv25375 6 165877489 165878821 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13354 S 451 0 1 PDE10A NA12156 esv275086 6 165951854 165957271 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585921 S 1250 0 1 PDE10A esv2636877 6 165952404 165953350 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378581 S 1 1 0 PDE10A NA18507 esv1728655 6 165952905 165952905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176800 S 2 1 0 PDE10A HuRef nsv523862 6 165984142 165990414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699699 S 2026 0 1 PDE10A nsv823925 6 165992508 165998509 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432929 S 31 1 0 PDE10A NA18972 esv33295 6 165993571 165998744 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98134,essv97265,essv100071,essv93273 M 51 4 0 PDE10A 21772,22075,22086,22170 nsv512899 6 166010712 166011697 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625545 S 1 1 0 "" 1 esv2530670 6 166011346 166012143 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172880 S 1 1 0 "" NA18507 esv1033478 6 166011674 166011674 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3662599 S 2 1 0 "" HuRef esv29487 6 166041323 166043765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10873 S 451 0 2 "" NA12004,NA18511 esv2415671 6 166042259 166042663 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658618 S 1 0 1 "" NA18507 dgv2032e1 6 166061631 166218925 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23686,esv268 M 271 0 0 "" NA10863 nsv521894 6 166074895 166080761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694666 S 2026 0 1 "" esv2452111 6 166082208 166083172 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299523 S 1 1 0 "" NA18507 esv2819 6 166082573 166082816 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25260 S 1 0 1 Single Asian sample YH "" YH nsv5589 6 166083113 166115595 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10527 S 9 1 0 "" NA18956 nsv886931 6 166118611 166183478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521160 S 6533 1 0 "" SP52253 nsv886932 6 166144270 166229157 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542265 S 6533 1 0 "" MS15743 esv1211696 6 166159846 166159895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3656531 S 2 0 1 "" HuRef esv2559240 6 166173078 166173840 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307788 S 1 1 0 "" NA18507 esv1527064 6 166173470 166173470 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4164290 S 2 1 0 "" HuRef esv1070513 6 166173537 166173537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350618 S 2 1 0 "" HuRef esv270377 6 166199866 166200078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575847,essv2521283,essv2536546,essv2571036,essv2556627,essv2570620,essv2525473,essv2554130,essv2544336,essv2553659,essv2530833,essv2552680,essv2536851,essv2569645,essv2544645,essv2562836,essv2553059,essv2538343,essv2524528,essv2565171,essv2534691,essv2561084,essv2519710,essv2567681,essv2567355,essv2541705,essv2569998,essv2553238,essv2572194,essv2559185,essv2533620,essv2567025,essv2557609,essv2555990,essv2534288,essv2522403,essv2572043,essv2548085,essv2537781,essv2548800,essv2533069,essv2554791,essv2547784,essv2563320 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA11830,NA11894,NA11920,NA11993,NA11994,NA12044,NA12156,NA12287,NA12414,NA12763,NA12873,NA18502,NA18517,NA18520,NA18526,NA18532,NA18542,NA18547,NA18555,NA18558,NA18561,NA18562,NA18566,NA18577,NA18582,NA18592,NA18593,NA18605,NA18609,NA18638,NA18944,NA18947,NA18953,NA18956,NA18959,NA18960,NA18973,NA19210 nsv7996 6 166206281 166208310 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17790 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv1164867 6 166292207 166292207 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808271 S 2 1 0 LINC00473 HuRef esv1351522 6 166356328 166356328 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893038 S 2 1 0 "" HuRef nsv512900 6 166363993 166364739 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625546 S 1 1 0 "" 1 esv1382660 6 166364483 166364483 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3942756 S 2 1 0 "" HuRef nsv5590 6 166400609 166447248 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv601 S 9 0 1 "" NA19240 nsv508439 6 166414637 166430218 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622563 S 4 0 1 "" NA18994 esv2535789 6 166417097 166423427 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198616 S 1 0 1 "" NA18507 esv2352330 6 166417430 166422769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723456 S 1 0 1 "" NA18507 esv21657 6 166417534 166422591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10578 S 451 0 10 "" NA18502,NA18508,NA18511,NA18523,NA18909,NA19114,NA19147,NA19190,NA19225,NA19240 esv3405 6 166417566 166422646 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25846 S 1 0 1 Single Asian sample YH "" YH nsv499178 6 166417630 166422580 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586013 S 9 0 1 "" nsv823926 6 166418162 166422536 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438900,nssv1424273 M 31 0 2 "" NA18582,NA18973 nsv514400 6 166418400 166422480 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627855 S 1414 0 1 "" nsv886933 6 166487843 166494236 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510726 S 6533 0 1 T SP54988 esv2644590 6 166545415 166546844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367948 S 1 0 1 "" NA18507 nsv521577 6 166548079 166551181 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698193 S 2026 1 0 "" nsv348921 6 166555508 166555575 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367499 M 24 "" nsv886934 6 166562840 166667562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530550 S 6533 0 1 PRR18,SFT2D1 MS10311 esv1965979 6 166592928 166593332 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569671 S 1 0 1 "" NA18507 nsv528092 6 166593062 166593480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704630 S 2026 0 1 "" nsv509168 6 166601553 166624542 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623492,nssv620869,nssv619463 M 4 3 0 "" NA10860,NA15510,NA18994 nsv510952 6 166601553 166624542 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618655 S 4 0 0 "" CHM esv28790 6 166615986 166616765 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20565 S 451 0 1 "" NA18858 esv2083953 6 166616391 166616926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736353 S 1 0 1 "" NA18507 esv4990 6 166616428 166616996 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27431 S 1 0 1 Single Asian sample YH "" YH esv1384862 6 166616564 166616667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646914 S 2 0 1 "" HuRef esv2485459 6 166618851 166619070 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245087 S 1 1 0 "" NA18507 esv1394730 6 166618989 166618989 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365759 S 2 1 0 "" HuRef nsv886935 6 166624734 166646556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509870 S 6533 0 1 PRR18 SP54956 nsv886936 6 166634014 166651279 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511371,nssv1518140 M 6533 0 2 PRR18 SP55021,SP57469 nsv823927 6 166639827 166642551 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432931 S 31 1 0 PRR18 NA18972 esv2256516 6 166687260 166687722 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722229 S 1 0 1 "" NA18507 esv268036 6 166694309 166694618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494137,essv2508938,essv2507121,essv2510948 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18522,NA18870,NA19116 nsv523548 6 166716423 166739764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699326 S 2026 0 1 BRP44L esv2485852 6 166748830 166749654 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353438 S 1 1 0 RPS6KA2 NA18507 esv1684843 6 166749677 166749677 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677744 S 2 1 0 RPS6KA2 HuRef nsv886937 6 166750686 166842803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530551 S 6533 0 1 RPS6KA2 MS10311 nsv823928 6 166758273 166764016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426744 S 31 0 1 RPS6KA2 AK6 dgv7035n71 6 166779715 166842803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886938,nsv886939 M 6533 0 2 RPS6KA2 MS16153,MS19587 nsv886940 6 166801013 166815924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549707 S 6533 0 1 RPS6KA2 MS18276 dgv400n21 6 166804755 166815924 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528806,nsv522905 M 2026 0 2 RPS6KA2 nsv7388 6 166805409 166845334 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv602 S 9 0 0 MIR1913,RPS6KA2 NA19240 nsv886941 6 166827163 166916981 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546615 S 6533 0 1 MIR1913,RPS6KA2 MS17208 nsv5591 6 166858686 166887687 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2630 S 9 1 0 RPS6KA2 NA18555 nsv5592 6 166878307 166922941 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8327 S 9 0 1 RPS6KA2 NA12156 esv2580547 6 166918371 166920728 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329493 S 1 0 1 RPS6KA2 NA18507 esv2182887 6 166918769 166920370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890984 S 1 0 1 RPS6KA2 NA18507 nsv349126 6 166918981 166920170 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367704 M 24 RPS6KA2 esv23654 6 166919026 166920149 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17712 S 451 0 5 RPS6KA2 NA18502,NA18523,NA18916,NA19147,NA19257 esv3720 6 166981376 166981662 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26161 S 1 0 1 Single Asian sample YH RPS6KA2 YH esv22598 6 167014443 167015243 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14157 S 451 0 1 RPS6KA2 NA18505 esv7295 6 167018617 167018678 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29736 S 1 1 0 RPS6KA2 SJK esv272233 6 167044758 167045113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581997,essv2583098,essv2583920 M 7 3 0 Samples from several populations that are part of the HapMap project. RPS6KA2 NA12878,NA12892,NA19238 esv267636 6 167044759 167045114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565782,essv2541006,essv2546185,essv2542464,essv2536628,essv2543883,essv2556663,essv2568329,essv2523263,essv2531809,essv2570380,essv2548544,essv2521686,essv2550714,essv2550329,essv2535240,essv2544510,essv2552118,essv2520539,essv2547398,essv2558617,essv2564590,essv2577808,essv2553552,essv2559462,essv2565252,essv2520102,essv2563994,essv2554825,essv2530755,essv2561858,essv2537203,essv2528255,essv2547058,essv2540041,essv2557441,essv2557197,essv2552333,essv2551731,essv2532322,essv2562677,essv2569613,essv2578588,essv2558720,essv2538937,essv2569623,essv2527312,essv2544566,essv2563087,essv2523934,essv2553015,essv2541252,essv2542646,essv2540570,essv2524455,essv2564994,essv2534830,essv2561091,essv2539783,essv2549537,essv2519506,essv2560060,essv2522035,essv2566267,essv2530996,essv2532754,essv2567960,essv2528798,essv2567477,essv2541775,essv2570218,essv2563612,essv2535838,essv2572544,essv2559133,essv2569022,essv2543733,essv2556330,essv2527820,essv2562192,essv2539507,essv2533901,essv2573052,essv2533655,essv2567278,essv2566530,essv2530116,essv2573762,essv2527472,essv2557695,essv2555955,essv2534278,essv2522484,essv2531307,essv2573524,essv2543160,essv2577094,essv2571918,essv2525686,essv2526875,essv2529766,essv2575477,essv2575245,essv2538745,essv2526642,essv2523947,essv2560877,essv2572915,essv2568459,essv2560302,essv2549708,essv2571283,essv2545974,essv2574341,essv2551518,essv2536260,essv2538098,essv2548708,essv2533248,essv2554720,essv2547970,essv2524800,essv2563376 M 157 123 0 Samples from several populations that are part of the HapMap project. RPS6KA2 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11831,NA11881,NA11919,NA11920,NA11992,NA11994,NA11995,NA12004,NA12006,NA12044,NA12045,NA12144,NA12155,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18519,NA18520,NA18522,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19143,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv1742910 6 167044787 167044787 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894311 S 2 1 0 RPS6KA2 HuRef esv271508 6 167065604 167065946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504114,essv2494906,essv2503317,essv2497745,essv2507815,essv2506335,essv2503537,essv2505414,essv2497391,essv2493861 M 157 10 0 Samples from several populations that are part of the HapMap project. RPS6KA2 NA18505,NA18520,NA18542,NA18555,NA18564,NA18566,NA18947,NA18952,NA18959,NA19210 esv25052 6 167069329 167070775 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15643 S 451 0 1 RPS6KA2 NA18861 esv29465 6 167081725 167083255 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19752,esv12814 M 451 4 4 RPS6KA2 NA06985,NA07045,NA11894,NA12156,NA18858,NA18861,NA18909,NA19240 esv2507832 6 167081738 167083620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194893 S 1 0 1 RPS6KA2 NA18507 esv269075 6 167108306 167108515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512623,essv2510664,essv2509753,essv2498424,essv2513484,essv2504706,essv2498991,essv2498896,essv2497002 M 157 9 0 Samples from several populations that are part of the HapMap project. RPS6KA2 NA18489,NA18501,NA18508,NA18858,NA18907,NA19099,NA19114,NA19138,NA19190 esv24794 6 167117308 167118234 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10332 S 451 3 13 RPS6KA2 NA11894,NA12044,NA12156,NA12489,NA12749,NA12776,NA18502,NA18508,NA18861,NA18907,NA19099,NA19129,NA19147,NA19190,NA19240,NA19257 esv1965634 6 167117835 167118382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865024 S 1 0 1 RPS6KA2 NA18507 nsv518561 6 167120803 167121023 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696004 S 2026 0 1 RPS6KA2 nsv886942 6 167165655 167202940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530552 S 6533 0 1 RPS6KA2 MS10311 esv1002461 6 167192476 167192536 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582528 S 3 0 1 RPS6KA2 HuRef esv1538758 6 167192495 167192556 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335629 S 2 0 1 RPS6KA2 HuRef nsv348883 6 167192496 167192556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367461 M 24 RPS6KA2 nsv823929 6 167232228 167237975 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432932 S 31 1 0 "" NA18972 esv268792 6 167247212 167247526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494696,essv2509470 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA19129 esv1673761 6 167331303 167331303 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833382 S 2 1 0 MIR3939 HuRef esv2182370 6 167337909 167338346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915152 S 1 0 1 FGFR1OP NA18507 nsv464140 6 167346671 167412542 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540113 S 1557 0 1 FGFR1OP 1780854255_A nsv886943 6 167360234 167422628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499850 S 6533 0 1 FGFR1OP SP50649 esv2752099 6 167368171 167499092 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983467,essv6986445,essv6983466 M 771 1 0 CCR6,FGFR1OP,GPR31 BEC_658 nsv519550 6 167370599 167393675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696915 S 2026 0 1 FGFR1OP esv1001129 6 167389862 167390812 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565172 S 3 1 0 "" HuRef esv2459172 6 167407640 167410323 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384502 S 1 0 1 "" NA18507 esv2280955 6 167407885 167409715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4675688 S 1 0 1 "" NA18507 esv6026 6 167408062 167409596 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28467 S 1 0 1 "" SJK esv28082 6 167408121 167409138 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18373 S 451 34 0 "" NA06985,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820385 6 167408121 167409469 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420616 S 1 0 1 "" NA10851 nsv469673 6 167420366 167578522 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649603 M 265 0 2 Samples from several populations that are part of the HapMap project. CCR6,GPR31,TCP10L2 essv22845 6 167421194 167765917 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCR6,GPR31,TCP10,TCP10L2,TTLL2,UNC93A NA12004 dgv2033e1 6 167421194 167919582 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv794,essv22693 M 271 0 0 CCR6,GPR31,TCP10,TCP10L2,TTLL2,UNC93A NA12004 nsv7997 6 167428584 167432558 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16362,nssv14845,nssv16917 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18980,NA19132 esv2273652 6 167437477 167437822 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4766305 S 1 0 1 "" NA18507 esv3722 6 167437516 167437779 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26163 S 1 0 1 Single Asian sample YH "" YH esv21674 6 167462566 167465976 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20825,esv13843 M 451 0 5 CCR6 NA18511,NA18907,NA18916,NA19114,NA19129 nsv7998 6 167462930 167464621 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16813 S 31 0 1 Samples from several populations that are part of the HapMap project. CCR6 NA18504 nsv7999 6 167472705 167478298 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17243 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv464141 6 167491901 167753547 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540114 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TCP10,TCP10L2,TTLL2,UNC93A HGDP00929 nsv470873 6 167492532 167764254 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544746 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TCP10,TCP10L2,TTLL2,UNC93A HGDP00929 nsv7389 6 167492687 167752822 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9703,nssv9704,nssv604,nssv603 M 9 0 0 TCP10,TCP10L2,TTLL2,UNC93A NA18507,NA19240 nsv8000 6 167500668 167512011 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17820 S 31 1 0 Samples from several populations that are part of the HapMap project. TCP10L2 NA19221 nsv516079 6 167524137 167524247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681317,nssv680491,nssv666055,nssv660943,nssv657429,nssv655316,nssv684036,nssv659620,nssv658268,nssv673804 M 2026 0 10 "" nsv525755 6 167524137 167542818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701923 S 2026 0 1 "" nsv464142 6 167524137 167547750 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540115 S 1557 1 0 "" 1780854477_A nsv886944 6 167524247 167644640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526917,nssv1520915 M 6533 2 0 UNC93A SP51300,SP57959 esv2447528 6 167527458 167617974 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237994 S 1 0 0 "" NA18507 esv24545 6 167529509 167701933 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16232,esv21346,esv15530,esv15036,esv10901 M 451 1 4 TTLL2,UNC93A NA12004,NA15510,NA18511,NA19108,NA19147 nsv526403 6 167534723 167540421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702702 S 2026 0 1 "" nsv519632 6 167535000 167547750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696961 S 2026 0 1 "" nsv523035 6 167540421 167585316 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698718 S 2026 1 0 "" esv34252 6 167541579 167732488 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978592,essv6978593,essv6978591,essv6986652 M 771 1 0 TCP10,TTLL2,UNC93A NA12004 esv1923050 6 167546337 167546984 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784989 S 1 0 1 "" NA18507 nsv509170 6 167549472 167632293 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623493 S 4 1 0 UNC93A NA18994 esv5673 6 167556707 167617698 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28114 S 1 0 0 "" SJK nsv886945 6 167558327 167662268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543477 S 6533 0 1 TTLL2,UNC93A MS16153 nsv886946 6 167564267 167821732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530553 S 6533 0 1 TCP10,TTLL2,UNC93A MS10311 nsv464144 6 167567862 167607882 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540116 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01069 nsv513669 6 167570629 167610439 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626921 S 1 0 0 "" 1 esv7596 6 167570746 167607064 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30037 S 1 0 0 "" SJK nsv513670 6 167575597 167599854 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626922 S 1 0 0 "" 1 esv2398902 6 167577443 167577791 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969478 S 1 0 1 "" NA18507 esv1010664 6 167577616 167577695 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568693 S 3 0 1 "" HuRef esv1710783 6 167577665 167577745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650531 S 2 0 1 "" HuRef nsv8001 6 167579397 167582138 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17273 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv517210 6 167603059 167698488 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663110,nssv692177,nssv678542,nssv669483,nssv660848,nssv686074,nssv655047,nssv681537,nssv672193,nssv700672,nssv701744,nssv678827,nssv654018,nssv701465,nssv665181,nssv696677,nssv695167 M 2026 1 16 TTLL2,UNC93A nsv886947 6 167619368 167659759 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597558,nssv1595949 M 6533 2 0 TTLL2,UNC93A IS40368,IS41195 nsv464145 6 167644640 167698488 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540117 S 1557 0 1 TTLL2,UNC93A 1780854477_A esv992486 6 167651933 167651998 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573369 S 3 0 1 "" HuRef esv1679879 6 167651982 167652048 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3618143 S 2 0 1 "" HuRef nsv348788 6 167652047 167652112 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367366 M 24 "" esv33288 6 167659850 167661398 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100794 S 51 0 1 TTLL2 21656 dgv7036n71 6 167703654 167752761 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886949,nsv886951,nsv886948 M 6533 3 0 TCP10 SP56094,SP58090,SP81109 nsv886950 6 167703654 167799692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585851,nssv1546616 M 6533 0 2 TCP10 IS37646,MS17208 nsv8002 6 167716147 167728284 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16843,nssv16392,nssv15154,nssv14484,nssv16947,nssv17303,nssv15878,nssv14875 M 31 8 0 Samples from several populations that are part of the HapMap project. TCP10 NA10839,NA12155,NA18502,NA18504,NA18972,NA18975,NA18980,NA19132 esv25645 6 167718505 167722700 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15274 S 451 2 0 "" NA12004,NA12489 esv1319028 6 167718683 167718776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839998 S 2 0 1 "" HuRef esv1055298 6 167718832 167718998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906215 S 2 0 1 "" HuRef esv1236806 6 167719002 167719056 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678424 S 2 0 1 "" HuRef esv1645214 6 167719072 167719134 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3980680 S 2 0 1 "" HuRef esv1652916 6 167719202 167720065 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064205 S 2 0 1 "" HuRef esv1497801 6 167720159 167720277 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854185 S 2 0 1 "" HuRef esv1515688 6 167720585 167720585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4023642 S 2 1 0 "" HuRef esv1647153 6 167720656 167720713 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646352 S 2 0 1 "" HuRef esv1519869 6 167720783 167721134 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631092 S 2 0 1 "" HuRef esv1380848 6 167721153 167721209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905776 S 2 0 1 "" HuRef esv1252459 6 167721372 167721887 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996309 S 2 0 1 "" HuRef dgv7037n71 6 167725511 167752761 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv886952,nsv886953 M 6533 2 0 "" MS15385,MS18352 esv1375174 6 167726549 167726549 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294047 S 2 1 0 "" HuRef nsv527667 6 167734079 167738851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704142 S 2026 0 1 "" nsv886954 6 167734774 167799692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520916 S 6533 1 0 "" SP51300 esv1003730 6 167736235 167736309 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575350 S 3 0 1 "" HuRef esv1321220 6 167736282 167736332 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704591 S 2 0 1 "" HuRef nsv515756 6 167746805 167752026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691798,nssv676510,nssv664694 M 2026 0 3 "" nsv511342 6 167750675 167758930 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625699 S 1 0 1 "" 1 esv28207 6 167755202 167757356 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14813 S 451 0 2 "" NA07037,NA18511 esv1782035 6 167756860 167757265 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344018 S 2 0 1 "" HuRef esv2575603 6 167795263 167795824 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252063 S 1 1 0 "" NA18507 nsv819938 6 167795290 167795505 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418890 S 2 1 0 "" AK1 esv9156 6 167798745 167798970 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31597 S 1 0 1 "" SJK esv2290878 6 167801867 167802590 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726119 S 1 0 1 "" NA18507 nsv509171 6 167804195 167876260 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620870 S 4 1 0 "" NA15510 esv2422263 6 167813145 168290253 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161460 S 181 1 0 C6orf123,C6orf124,FRMD1,HGC6.3,KIF25,MLLT4 ND04498 nsv348674 6 167815408 167815408 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367252 M 24 "" esv2607752 6 167830102 167831103 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211830 S 1 1 0 "" NA18507 esv2113073 6 167847795 167848166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640335 S 1 0 1 "" NA18507 nsv348795 6 167853166 167853166 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367373 M 24 "" nsv886955 6 167868757 168032048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592635 S 6533 1 0 C6orf123,C6orf124,MLLT4 IS39243 esv2502379 6 167877791 167879313 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162814 S 1 0 1 "" NA18507 esv25442 6 167878674 167879427 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14320 S 451 0 4 "" NA11894,NA12004,NA12414,NA12776 esv1448229 6 167878995 167878995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800984 S 2 1 0 "" HuRef esv1068481 6 167879007 167879007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836581 S 2 1 0 "" HuRef nsv509172 6 167900590 167953106 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619464 S 4 1 0 C6orf123 NA10860 dgv27e196 6 167911176 168290253 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422208,esv2422377,esv2422375,esv2422465,esv2422357,esv2422271 M 181 6 0 C6orf123,C6orf124,FRMD1,HGC6.3,KIF25,MLLT4 ND00940,ND01565,ND02862,ND03047,ND03102,ND04361 nsv830864 6 167951793 168103314 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445808 S 95 1 0 C6orf124,MLLT4 dgv217e55 6 167967136 168369919 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34861,esv2752100,esv2752101 M 771 3 0 C6orf124,FRMD1,HGC6.3,KIF25,MLLT4 BEC_395,BEC_705,NA12815 dgv2034e1 6 167979717 168458233 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22328,essv18423,essv24508,esv713,essv21144 M 271 0 0 DACT2,FRMD1,HGC6.3,KIF25,MLLT4 NA06985,NA12249,NA12802,NA12815 esv2422479 6 167988426 168181521 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161505 S 181 1 0 HGC6.3,KIF25,MLLT4 ND03830 nsv830865 6 168014595 168223540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445809 S 95 1 0 FRMD1,HGC6.3,KIF25,MLLT4 dgv218e55 6 168047169 168370293 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752110,esv2752112,esv2752102,esv34560,esv2752104,esv34258,esv35125,esv2752103,esv2752105,esv2752106,esv2752107,esv2752108,esv2752109,esv2752111 M 771 14 0 FRMD1,HGC6.3,KIF25,MLLT4 BEC_182,BEC_415,BEC_535,BEC_661,BEC_675,BEC_737,BEC_817,NA06985,NA12249,NA12802,SPC_102,SPC_38,SPC_83,SPC_86 esv272899 6 168049163 168049248 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581611 S 7 1 0 Samples from several populations that are part of the HapMap project. MLLT4 NA12878 nsv515568 6 168060665 168352184 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666637,nssv655977,nssv668141,nssv701625,nssv696820,nssv663929,nssv670545,nssv682244,nssv694840,nssv671628,nssv666881,nssv667298,nssv701335,nssv654873,nssv667552,nssv681569,nssv676241,nssv689118,nssv666706,nssv693442,nssv674061,nssv688132,nssv669582,nssv678176,nssv685952,nssv664114,nssv679985,nssv700319 M 2026 19 9 FRMD1,HGC6.3,KIF25,MLLT4 esv32818 6 168071725 168357860 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93344 S 51 1 0 FRMD1,HGC6.3,KIF25,MLLT4 22170 dgv791n27 6 168073784 168342182 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464197,nsv464151,nsv464188,nsv464198,nsv464152,nsv464196,nsv464149,nsv464189,nsv464162,nsv464183,nsv464182,nsv464155,nsv464178,nsv464190,nsv464154,nsv464153,nsv464186,nsv464185,nsv464160,nsv464148,nsv464181,nsv464187,nsv464180,nsv464179,nsv464159,nsv464200 M 1557 26 0 FRMD1,HGC6.3,KIF25,MLLT4 1780846005_A,1780854231_A,1780854318_A,1780854326_A,1780854393_A,1780854417_A,1780854444_A,1780854486_A,1780854556_A,1780862246_A,1780862334_A,1780862419_A,1780862557_A,1780862587_A,1782681236_A,1787431198_A,1798860592_A,HGDP00644,HGDP00669,HGDP01373,NINDS_103,NINDS_184,NINDS_195,NINDS_218,NINDS_256,NINDS_33 dgv2035e1 6 168075302 168350057 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19355,essv20475,essv20681,essv22019 M 271 0 0 FRMD1,HGC6.3,KIF25,MLLT4 NA06985,NA12249,NA12802,NA12815 nsv8004 6 168076091 168269612 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14050 S 31 1 0 Samples from several populations that are part of the HapMap project. FRMD1,HGC6.3,KIF25,MLLT4 NA12802 esv23528 6 168076579 168341749 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19234,esv12159,esv21173,esv15153 M 451 3 7 FRMD1,HGC6.3,KIF25,MLLT4 NA06985,NA07037,NA07045,NA11894,NA11931,NA15510,NA18517,NA18916,NA19108,NA19225 nsv442020 6 168078125 168338764 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FRMD1,HGC6.3,KIF25,MLLT4 esv2572068 6 168083608 168085440 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372043 S 1 0 1 MLLT4 NA18507 nsv820650 6 168083696 168085901 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420617 S 1 0 1 MLLT4 NA10851 nsv511926 6 168083724 168085365 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624463 S 1 0 1 MLLT4 1 esv991018 6 168084000 168084057 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572160 S 3 0 1 MLLT4 HuRef esv1558245 6 168084100 168084386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4178780 S 2 0 1 MLLT4 HuRef dgv61n64 6 168086687 168339100 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818470,nsv818469 M 112 2 0 FRMD1,HGC6.3,KIF25,MLLT4 NA06985,NA12249 nsv509173 6 168089279 168237060 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619465,nssv623494 M 4 2 0 FRMD1,HGC6.3,KIF25,MLLT4 NA10860,NA18994 dgv7038n71 6 168099001 168156044 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886958,nsv886956,nsv886959,nsv886957,nsv886960 M 6533 0 5 HGC6.3,MLLT4 IS32841,IS33776,MS11306,MS16153,MS17208 nsv886961 6 168099001 168278364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585852 S 6533 0 1 FRMD1,HGC6.3,KIF25,MLLT4 IS37646 nsv886962 6 168099001 168572364 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530554 S 6533 0 1 DACT2,FRMD1,HGC6.3,KIF25,MLLT4 MS10311 nsv5593 6 168112709 168143377 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3489,nssv2746 M 9 2 0 HGC6.3,MLLT4 NA12878,NA18555 esv1251623 6 168119714 168119714 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247525 S 2 1 0 HGC6.3 HuRef esv1360911 6 168119795 168119921 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139359 S 2 0 1 HGC6.3 HuRef esv1386885 6 168120945 168120945 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907769 S 2 1 0 "" HuRef dgv7039n71 6 168125006 168142809 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886963,nsv886964,nsv886965 M 6533 0 3 "" IS33248,IS33684,MS18276 dgv7040n71 6 168129424 168146699 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886970,nsv886966,nsv886971,nsv886968,nsv886969 M 6533 0 7 "" IS32322,IS32888,IS33504,IS33797,IS41634,MS10769,MS13770 nsv886967 6 168131062 168142809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573531,nssv1592183 M 6533 0 2 "" IS33455,IS39233 esv1611135 6 168133663 168133663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148197 S 2 1 0 "" HuRef esv1084359 6 168133674 168133674 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192029 S 2 1 0 "" HuRef esv997150 6 168133688 168138392 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564911 S 3 1 0 "" HuRef esv997871 6 168140777 168140924 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569204 S 3 0 1 "" HuRef nsv886972 6 168162650 168352184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543479 S 6533 0 1 FRMD1,KIF25 MS16153 dgv7041n71 6 168169995 168209041 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886973,nsv886975,nsv886976 M 6533 0 8 FRMD1,KIF25 IS33162,IS33504,IS33684,IS35007,IS38293,IS40799,MS10386,MS13770 dgv7042n71 6 168169995 168248924 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886977,nsv886978,nsv886974 M 6533 0 3 FRMD1,KIF25 MS11237,MS17208,MS18276 nsv823930 6 168173765 168183446 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426745 S 31 1 0 KIF25 AK6 esv2446593 6 168178564 168179600 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255793 S 1 1 0 KIF25 NA18507 nsv830866 6 168185412 168367974 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445810 S 95 1 0 FRMD1,KIF25 dgv7043n71 6 168185614 168216329 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886979,nsv886980 M 6533 0 3 FRMD1,KIF25 IS37172,IS39233,MS16315 nsv464201 6 168205614 168217798 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540149 S 1557 0 1 FRMD1 1780862197_A esv2212981 6 168219214 168219628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4960361 S 1 0 1 FRMD1 NA18507 nsv350028 6 168219382 168219447 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368606 M 24 FRMD1 esv1194949 6 168219419 168219485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595769 S 2 0 1 FRMD1 HuRef esv2258411 6 168220782 168221172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848215 S 1 0 1 FRMD1 NA18507 esv999492 6 168220818 168220910 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575842 S 3 0 1 FRMD1 HuRef esv1591785 6 168220989 168221083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3997105 S 2 0 1 FRMD1 HuRef esv1009345 6 168230068 168230132 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578697 S 3 0 1 "" HuRef esv1674695 6 168230092 168230157 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348690 S 2 0 1 "" HuRef esv997874 6 168232364 168232364 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575963 S 3 1 0 "" HuRef esv1745452 6 168232386 168232386 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907792 S 2 1 0 "" HuRef esv2599145 6 168263175 168263916 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210701 S 1 1 0 "" NA18507 nsv8005 6 168274261 168341562 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14110 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12802 esv1918573 6 168279951 168280381 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855197 S 1 0 1 "" NA18507 esv2536259 6 168311858 168313305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240707 S 1 0 1 "" NA18507 nsv886981 6 168326598 168389326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532400 S 6533 0 1 "" MS10769 esv4035 6 168333890 168334281 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26476 S 1 0 1 Single Asian sample YH "" YH esv1948802 6 168340853 168341258 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628928 S 1 0 1 "" NA18507 nsv830867 6 168347006 168517227 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445812,nssv1445811 M 95 0 2 DACT2 esv2165859 6 168353663 168354134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878770 S 1 0 1 "" NA18507 nsv5594 6 168360268 168395771 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4956,nssv6106,nssv3490 M 9 3 0 "" NA12156,NA12878,NA19129 nsv886982 6 168367697 168397753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537076 S 6533 0 1 "" MS13095 nsv8006 6 168375646 168381618 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16977,nssv16452,nssv17594,nssv15238,nssv14657,nssv14140,nssv14816,nssv14514,nssv16873,nssv16941,nssv13699,nssv15841 M 31 9 3 Samples from several populations that are part of the HapMap project. "" NA12802,NA18502,NA18504,NA18517,NA18563,NA18572,NA18860,NA18975,NA19007,NA19132,NA19144,NA19240 nsv821469 6 168377039 168382584 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420618 S 1 0 1 "" NA10851 esv25827 6 168377284 168381839 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15774 S 451 12 9 "" NA06985,NA11894,NA11995,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA15510,NA18502,NA18505,NA18523,NA18858,NA18907,NA19099,NA19147,NA19190,NA19225,NA19240,NA19257 nsv349831 6 168377328 168381224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368409 M 24 "" esv1450795 6 168377684 168378234 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835529 S 2 0 1 "" HuRef esv1243172 6 168379558 168379724 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303740 S 2 0 1 "" HuRef esv1564713 6 168379742 168380070 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292318 S 2 0 1 "" HuRef esv26101 6 168389313 168389792 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14014 S 451 0 1 "" NA18858 esv1053384 6 168389653 168389800 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809767 S 2 0 1 "" HuRef nsv886983 6 168432506 168605423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585853 S 6533 0 1 DACT2,SMOC2 IS37646 esv1759048 6 168434333 168434388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040298 S 2 0 1 "" HuRef nsv349216 6 168439490 168439562 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367794 M 24 "" esv24045 6 168439500 168440210 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11401 S 451 1 0 "" NA18858 esv989492 6 168439587 168439650 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581438 S 3 0 1 "" HuRef esv1464674 6 168439608 168439608 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3873152 S 2 1 0 "" HuRef esv1267166 6 168439608 168439672 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644947 S 2 0 1 "" HuRef dgv7044n71 6 168446727 168542402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886985,nsv886986,nsv886984 M 6533 0 4 DACT2 IS32322,IS34407,IS41634,MS13770 nsv526129 6 168454019 168462773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702383 S 2026 0 1 DACT2 nsv8007 6 168458099 168469866 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15184,nssv15396,nssv17850,nssv16482,nssv15316,nssv16971,nssv15908 M 31 5 2 Samples from several populations that are part of the HapMap project. DACT2 NA10839,NA10863,NA12155,NA18502,NA18552,NA18860,NA19221 esv2618324 6 168459371 168462065 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380898 S 1 0 1 DACT2 NA18507 esv2155452 6 168459692 168461540 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764695 S 1 0 1 DACT2 NA18507 nsv349328 6 168459768 168461373 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367906 M 24 DACT2 esv8063 6 168459793 168461499 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30504 S 1 0 1 DACT2 SJK esv27638 6 168459850 168461640 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21085 S 451 7 0 DACT2 NA12006,NA12044,NA12156,NA12239,NA12287,NA12878,NA18858 nsv820984 6 168459850 168461640 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420619 S 1 0 1 DACT2 NA10851 nsv511927 6 168460011 168461797 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624464 S 1 0 1 DACT2 1 esv4977 6 168460013 168461823 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27418 S 1 0 1 Single Asian sample YH DACT2 YH esv1675508 6 168460086 168461471 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3795596 S 2 0 1 DACT2 HuRef esv28998 6 168469640 168476702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10062,esv17639,esv10702 M 451 0 4 "" NA07045,NA11894,NA12749,NA12828 nsv886987 6 168473986 168542402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549710,nssv1543480 M 6533 0 2 "" MS16153,MS18276 nsv830868 6 168476615 168670261 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445813 S 95 1 0 SMOC2 nsv349197 6 168477843 168477990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367775 M 24 "" esv1182392 6 168478213 168478361 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214928 S 2 0 1 "" HuRef nsv349909 6 168478324 168478471 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368487 M 24 "" esv1009874 6 168491462 168491462 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575671 S 3 1 0 "" HuRef nsv348819 6 168491590 168491671 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367397 M 24 "" esv27454 6 168500020 168503534 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17096 S 451 1 11 "" NA11894,NA11931,NA12239,NA18505,NA18508,NA18517,NA18523,NA18909,NA19129,NA19147,NA19240,NA19257 nsv511928 6 168500220 168503301 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624465 S 1 0 1 "" 1 esv1319893 6 168500344 168501553 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713901 S 2 0 1 "" HuRef esv1498552 6 168501589 168501808 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205202 S 2 0 1 "" HuRef esv2646854 6 168506479 168507301 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340880 S 1 1 0 "" NA18507 esv26865 6 168521479 168527634 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11436,esv9803 M 451 0 8 "" NA18505,NA18511,NA18517,NA18858,NA18907,NA18916,NA19108,NA19114 nsv820842 6 168521778 168524433 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420620 S 1 1 0 "" NA10851 esv2194671 6 168523319 168523816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719539 S 1 0 1 "" NA18507 nsv348878 6 168526822 168527319 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367456 M 24 "" esv25147 6 168537713 168554876 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19359 S 451 1 0 "" NA18502 esv1317054 6 168591943 168591943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689125 S 2 1 0 SMOC2 HuRef nsv8008 6 168612607 168621297 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14857 S 31 0 1 Samples from several populations that are part of the HapMap project. SMOC2 NA11830 nsv442021 6 168615902 168620730 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SMOC2 nsv516247 6 168617628 168618466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674062,nssv667036 M 2026 0 2 SMOC2 dgv2036e1 6 168626236 168781542 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3230,essv21272,essv8790,essv7431,essv8469,essv16826,essv8231,essv14589,essv20251,essv14866,essv11819,essv50,essv881,essv3179,essv15270,essv9986,essv2579,essv10776,essv7197,essv18953,essv16815,essv20349,essv20058,essv12503,essv12192,essv16441,essv16994,essv11701,essv5281,essv23655,essv13778,essv4368,essv17508,essv4484,essv11869,essv15870,essv1764,essv16347,essv6268,essv11550,essv19265,essv20192,esv113,essv9365,essv11272,essv16135,essv8607,essv10686,essv14073,essv23909,essv15327,essv17126,essv14337,essv14993,essv15630,essv9667,essv12722,essv5483,essv18848,essv6833,essv22780,essv12659,essv5121,essv8087,essv1133,essv20556,essv23580,essv22227,essv403,essv10273,essv1254 M 271 0 0 SMOC2 NA07019,NA07048,NA07056,NA10838,NA10855,NA10863,NA11832,NA12005,NA12006,NA12044,NA12144,NA12236,NA12751,NA12762,NA12814,NA18500,NA18506,NA18508,NA18516,NA18521,NA18522,NA18523,NA18547,NA18552,NA18573,NA18577,NA18579,NA18623,NA18624,NA18632,NA18636,NA18853,NA18855,NA18861,NA18862,NA18870,NA18872,NA18912,NA18913,NA18914,NA18964,NA18971,NA18974,NA18990,NA18991,NA18995,NA18997,NA19000,NA19012,NA19093,NA19094,NA19099,NA19100,NA19101,NA19116,NA19139,NA19144,NA19153,NA19154,NA19171,NA19173,NA19193,NA19194,NA19204,NA19205,NA19206,NA19207,NA19221,NA19223,NA19239 nsv428156 6 168626236 168825483 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450888,nssv450887,nssv450892,nssv450889,nssv450890,nssv450894,nssv450891,nssv450893,nssv450884,nssv450885 M 62 1 9 SMOC2 HGDP00450,HGDP00471,HGDP01088,NA18498,NA19096,NA19113,NA19147,NA19181,NA19189,NA19257 esv26287 6 168632130 168633770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14941 S 451 0 1 SMOC2 NA18517 nsv350124 6 168632789 168632935 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368702 M 24 SMOC2 nsv5595 6 168635768 168680446 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8328 S 9 0 1 SMOC2 NA12156 esv3115 6 168648528 168649075 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25556 S 1 0 1 Single Asian sample YH SMOC2 YH esv1003442 6 168648534 168648767 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570022 S 3 0 1 SMOC2 HuRef esv2364688 6 168648547 168648936 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557902 S 1 0 1 SMOC2 NA18507 nsv886988 6 168651915 168670298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532401,nssv1546619 M 6533 0 2 SMOC2 MS10769,MS17208 nsv886989 6 168654469 168684473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543481 S 6533 0 1 SMOC2 MS16153 nsv886990 6 168654469 168796249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530555 S 6533 0 1 SMOC2 MS10311 nsv524357 6 168661590 168666410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700268 S 2026 0 1 SMOC2 nsv522533 6 168695540 168699652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705905 S 2026 0 1 SMOC2 esv2574703 6 168703763 168706801 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306231 S 1 0 1 SMOC2 NA18507 nsv8009 6 168703797 168706716 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15214,nssv13729,nssv14687,nssv15168,nssv16512,nssv15346,nssv14552,nssv15879,nssv14810,nssv16903,nssv15329 M 31 2 9 Samples from several populations that are part of the HapMap project. SMOC2 NA07029,NA10839,NA12740,NA18502,NA18504,NA18552,NA18563,NA18564,NA18572,NA18853,NA19173 nsv511929 6 168703873 168705560 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624467 S 1 0 1 SMOC2 1 nsv821321 6 168703878 168706041 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420621 S 1 0 1 SMOC2 NA10851 esv1954927 6 168703885 168704899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776393 S 1 0 1 SMOC2 NA18507 esv2125624 6 168703942 168704314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927552 S 1 0 1 SMOC2 NA18507 esv2418924 6 168703981 168706057 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522092 S 1 0 1 SMOC2 NA18507 esv23308 6 168703994 168706026 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20710 S 451 1 30 SMOC2 NA07037,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1584909 6 168704156 168705352 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907226 S 2 0 1 SMOC2 HuRef esv1451948 6 168705387 168705439 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102276 S 2 0 1 SMOC2 HuRef nsv886991 6 168706442 168882497 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588610 S 6533 1 0 SMOC2 IS38220 esv24962 6 168715334 168716939 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11766 S 451 0 12 SMOC2 NA07045,NA12414,NA18502,NA18505,NA18523,NA18858,NA18861,NA18909,NA19114,NA19129,NA19147,NA19190 esv2421506 6 168718725 168720559 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111106,essv5120103,essv5016573,essv5123484,essv5034942,essv5098646,essv5125331,essv5076465,essv5076108,essv5038073,essv5065438,essv5060910,essv5055204,essv5139987,essv5036284,essv5011756,essv5158045,essv5055743 M 1184 0 18 SMOC2 NA18852,NA18854,NA19178,NA19180,NA19248,NA19317,NA19328,NA19394,NA19908,NA19919,NA19982,NA20288,NA21424,NA21457,NA21683,NA21716,NA21718,NA21741 nsv442022 6 168718729 168720559 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SMOC2 nsv509174 6 168724755 168747114 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619466,nssv623495 M 4 2 0 SMOC2 NA10860,NA18994 nsv886992 6 168728405 168760104 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543482 S 6533 0 1 SMOC2 MS16153 nsv821170 6 168735722 168737881 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420622 S 1 0 1 SMOC2 NA10851 esv27003 6 168735762 168739146 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17538,esv21087 M 451 15 2 SMOC2 NA06985,NA11993,NA12006,NA12044,NA12156,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA19099,NA19108,NA19114,NA19147,NA19190,NA19257 dgv2037e1 6 168735818 168781542 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17914,essv12585 M 271 0 0 SMOC2 NA12003,NA19098 esv1523390 6 168735897 168735951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248395 S 2 0 1 SMOC2 HuRef esv8086 6 168737033 168737702 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30527 S 1 0 1 SMOC2 SJK nsv349668 6 168738612 168738670 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368246 M 24 SMOC2 esv1569263 6 168738692 168738692 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647053 S 2 1 0 SMOC2 HuRef esv2454869 6 168741832 168742141 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167539 S 1 0 1 SMOC2 NA18507 dgv1079n67 6 168746858 168748665 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823931,nsv823933 M 31 0 3 SMOC2 NA18542,NA18947,NA18972 nsv510953 6 168747114 168841871 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621595 S 4 0 0 SMOC2 NA15510 nsv525282 6 168747343 168747646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701386 S 2026 0 1 SMOC2 esv1170089 6 168753912 168753985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983051 S 2 0 1 SMOC2 HuRef nsv830869 6 168754687 168853640 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445814 S 95 0 1 SMOC2 nsv348653 6 168754763 168755001 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367231 M 24 SMOC2 esv25984 6 168754807 168759751 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19886,esv13185 M 451 0 8 SMOC2 NA07045,NA11931,NA11995,NA12287,NA12489,NA18505,NA18517,NA19190 nsv511930 6 168755855 168758444 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624468 S 1 0 1 SMOC2 1 esv1048919 6 168756907 168757733 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349970 S 2 0 1 SMOC2 HuRef esv1130462 6 168757777 168758267 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044275 S 2 0 1 SMOC2 HuRef nsv510062 6 168758997 168764997 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622130,nssv624021,nssv618250 M 4 0 3 SMOC2 CHM,NA10860,NA18994 nsv509175 6 168777331 168841871 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619467 S 4 1 0 SMOC2 NA10860 esv21613 6 168796145 168797889 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16722 S 451 1 1 SMOC2 NA19108,NA19240 esv1130498 6 168796272 168797051 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708942 S 2 0 1 SMOC2 HuRef nsv7390 6 168798294 168836734 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9705 S 9 0 0 SMOC2 NA18507 esv2534031 6 168801923 168802233 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356928 S 1 1 0 SMOC2 NA18507 nsv464204 6 168828453 168867264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540150 S 1557 0 1 "" 1780854354_A nsv513671 6 168833282 168836537 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626923 S 1 0 0 "" 1 nsv435960 6 168834149 168835881 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466330 S 2 0 0 "" NA15510 esv2643528 6 168834969 168837154 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188374 S 1 0 0 "" NA18507 esv998923 6 168835119 168838086 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564688 S 3 0 0 "" HuRef esv1728912 6 168835529 168836601 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240545 S 2 0 0 "" HuRef nsv513672 6 168835725 168838579 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626924 S 1 0 0 "" 1 nsv435985 6 168836112 168838534 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466331 S 2 0 0 "" NA15510 nsv436710 6 168836587 168838190 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466332 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv3852 6 168857495 168857911 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26293 S 1 0 1 Single Asian sample YH "" YH esv23170 6 168868068 168868708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21140 S 451 0 1 "" NA19099 nsv886993 6 168927421 169104797 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522276 S 6533 1 0 "" SP52872 nsv464205 6 168932064 169107567 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540151 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01294 nsv886994 6 168953878 169068724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585854 S 6533 0 1 "" IS37646 nsv886995 6 168962102 168998415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530556 S 6533 0 1 "" MS10311 esv2488000 6 168964031 168965611 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357601 S 1 0 1 "" NA18507 esv1393474 6 168965089 168965360 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063074 S 2 0 1 "" HuRef nsv349115 6 168965090 168965369 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367693 M 24 "" nsv509176 6 168974179 168985292 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620872,nssv623496 M 4 2 0 "" NA15510,NA18994 nsv5596 6 168974983 168983425 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2631 S 9 1 0 "" NA18555 esv1007650 6 168981076 168981993 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564572 S 3 1 0 "" HuRef nsv820676 6 168981593 168983448 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420623 S 1 0 1 "" NA10851 esv25707 6 168981778 168983303 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15137 S 451 3 23 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18861,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv1362343 6 168981879 168981879 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100510 S 2 1 0 "" HuRef nsv349653 6 168981888 168981888 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368231 M 24 "" esv1588351 6 168982019 168982138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311565 S 2 0 1 "" HuRef esv2623580 6 168983851 168984267 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276459 S 1 1 0 "" NA18507 esv1520886 6 168983885 168983885 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777997 S 2 1 0 "" HuRef esv2268933 6 168988678 168989826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602647 S 1 0 1 "" NA18507 nsv820377 6 168988759 168990019 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420626 S 1 0 1 "" NA10851 esv26554 6 168988869 168990019 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15730 S 451 0 11 "" NA11931,NA12239,NA15510,NA18502,NA18517,NA18523,NA18861,NA18907,NA18909,NA19147,NA19225 esv1743652 6 168988875 168988875 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083830 S 2 1 0 "" HuRef esv1739368 6 168989262 168989374 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181366 S 2 0 1 "" HuRef nsv350164 6 168989522 168989963 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368742 M 24 "" esv1282714 6 168998466 168998598 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260786 S 2 0 1 "" HuRef nsv464207 6 169007720 169041299 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540153 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00135 esv1325897 6 169008735 169008735 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646793 S 2 1 0 "" HuRef esv2405761 6 169034072 169034498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869579 S 1 0 1 "" NA18507 esv23335 6 169051803 169052538 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12532 S 451 0 1 "" NA18511 esv2359472 6 169055399 169055834 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797464 S 1 0 1 "" NA18507 esv1571065 6 169055432 169055432 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059492 S 2 1 0 "" HuRef esv23822 6 169071169 169074967 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11536,esv11782 M 451 6 3 "" NA06985,NA07045,NA11894,NA12749,NA15510,NA18511,NA18517,NA18858,NA18916 esv1755753 6 169073495 169073593 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671504 S 2 0 1 "" HuRef esv1055631 6 169073638 169073736 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335647 S 2 0 1 "" HuRef esv1644700 6 169074642 169074642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244478 S 2 1 0 "" HuRef esv1003812 6 169076759 169076759 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570944 S 3 1 0 "" HuRef nsv518165 6 169085071 169094016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694207 S 2026 0 1 "" esv1007752 6 169132629 169133299 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574369 S 3 0 1 "" HuRef esv23158 6 169132645 169133915 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17155 S 451 3 0 "" NA18505,NA19129,NA19190 nsv348449 6 169132650 169133145 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367027 M 24 "" nsv348516 6 169133548 169133752 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367094 M 24 "" esv21535 6 169166666 169167346 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19229 S 451 0 2 "" NA12044,NA18861 nsv348740 6 169209725 169209782 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367318 M 24 "" nsv886996 6 169220811 169271889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557127 S 6533 0 1 "" MS22421 dgv7045n71 6 169234689 169271889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv886997,nsv886998 M 6533 0 2 "" MS15672,MS16387 nsv470874 6 169240227 169258120 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544747 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00717 nsv464209 6 169240227 169258121 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540154 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00717 dgv2038e1 6 169243714 169274364 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2136,essv5965,esv1130,essv6508 M 271 0 0 "" NA18552,NA18572,NA18978 nsv886999 6 169246516 169262065 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503446,nssv1516123 M 6533 0 2 "" SP52058,SP56458 dgv7046n71 6 169246516 169271889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887001,nsv887000,nsv887003 M 6533 0 210 "" IS30098,IS30378,IS33345,IS35146,IS35280,IS36492,IS38170,IS38237,MS10183,MS10241,MS10470,MS10593,MS10638,MS10897,MS10999,MS11031,MS11135,MS11137,MS11565,MS12154,MS12608,MS12963,MS13025,MS13050,MS13068,MS13143,MS13206,MS13240,MS13254,MS13288,MS13517,MS13866,MS14019,MS14035,MS14216,MS14290,MS14374,MS14591,MS14637,MS14681,MS14752,MS14993,MS15428,MS15973,MS16248,MS16521,MS16558,MS16564,MS16746,MS16934,MS16981,MS17019,MS17106,MS17148,MS17156,MS17216,MS17223,MS17503,MS17825,MS17878,MS18077,MS18170,MS18819,MS18911,MS19321,MS19345,MS19503,MS19698,MS19798,MS21118,MS21457,MS21506,MS21522,MS21528,MS21722,MS22022,MS22212,MS22411,MS22606,MS22928,MS23133,MS23720,MS23798,MS24158,MS24173,MS24381,MS24672,MS24886,MS24918,MS24919,MS25042,MS25163,MS25440,MS25498,MS25653,MS25674,SP50126,SP50144,SP50170,SP50555,SP50597,SP50615,SP50622,SP50624,SP50749,SP50756,SP50783,SP50850,SP50856,SP50908,SP50925,SP50936,SP51007,SP51025,SP51040,SP51043,SP51172,SP51244,SP51261,SP51293,SP51309,SP51338,SP51388,SP51485,SP51486,SP52017,SP52025,SP52055,SP52377,SP52386,SP52537,SP52574,SP52594,SP53303,SP53320,SP53323,SP53368,SP53440,SP53550,SP53670,SP53759,SP53994,SP54216,SP54284,SP54311,SP54429,SP54532,SP54587,SP54734,SP54935,SP54976,SP55026,SP55028,SP55029,SP55064,SP55152,SP55209,SP55500,SP55548,SP55558,SP55565,SP55611,SP55630,SP55663,SP55690,SP55748,SP55787,SP56106,SP56107,SP56108,SP56185,SP56304,SP56330,SP56350,SP56518,SP56707,SP56708,SP56748,SP56805,SP56845,SP56926,SP56976,SP57176,SP57445,SP57482,SP57539,SP57665,SP57771,SP58003,SP58062,SP58205,SP58236,SP58299,SP58387,SP58409,SP58450,SP58505,SP80971,SP81014,SP81092,SP81099,SP81105,SP81107,SP81187,SP81238,SP81388,SP81403,SP81469,SP81504,SP81554 nsv887002 6 169246516 169281980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534701,nssv1538410,nssv1560674 M 6533 0 3 "" MS11726,MS13727,MS24624 essv5625 6 169247593 169260029 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18579 nsv8010 6 169247972 169267970 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15376,nssv13789 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18552,NA18572 nsv823934 6 169248094 169260187 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422667 S 31 0 1 "" NA18552 dgv792n27 6 169248365 169262485 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464212,nsv464213,nsv464220,nsv464214,nsv464216,nsv464222,nsv464219,nsv464221,nsv464218,nsv464211,nsv464210,nsv464215 M 1557 0 12 "" HGDP00780,HGDP00782,HGDP00786,HGDP00812,HGDP00950,HGDP00951,HGDP00958,HGDP01102,HGDP01180,HGDP01182,HGDP01197,HGDP01245 esv2421951 6 169248365 169262485 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5002329,essv5149536,essv5144430,essv5056429,essv5124696,essv5111559,essv5021034,essv5020293,essv5002258,essv5099059,essv5060600,essv5070559,essv5159516,essv5031646,essv5020867 M 1184 0 15 "" NA18108,NA18124,NA18132,NA18133,NA18136,NA18536,NA18552,NA18571,NA18572,NA18579,NA18638,NA18640,NA18643,NA18645,NA18978 nsv526115 6 169248365 169262485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702365 S 2026 0 1 "" nsv818471 6 169248365 169281980 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417607 S 112 0 1 "" NA18978 esv2099119 6 169249218 169249613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805782 S 1 0 1 "" NA18507 nsv442023 6 169249708 169260860 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8011 6 169259996 169271625 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16542,nssv17624,nssv16933 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18517 esv1198142 6 169267198 169267198 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225073 S 2 1 0 "" HuRef esv25794 6 169267486 169271996 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11351 S 451 6 2 "" NA07037,NA15510,NA18502,NA18508,NA18517,NA18909,NA18916,NA19099 nsv820899 6 169267971 169271581 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420627 S 1 0 1 "" NA10851 esv1120483 6 169268072 169268072 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791981 S 2 1 0 "" HuRef esv1338724 6 169268900 169268972 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059463 S 2 0 1 "" HuRef esv1029626 6 169268980 169269052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103851 S 2 0 1 "" HuRef nsv511931 6 169269524 169271298 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624469 S 1 0 1 "" 1 esv1001841 6 169269839 169277462 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564959 S 3 0 1 "" HuRef esv2621298 6 169269896 169272179 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387388 S 1 0 1 "" NA18507 esv1040143 6 169270028 169270892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882928 S 2 0 1 "" HuRef dgv7047n71 6 169313618 169566676 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887004,nsv887005 M 6533 2 0 THBS2 IS30235,IS41979 esv21851 6 169333757 169334797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15452 S 451 0 1 "" NA12044 esv1118688 6 169339098 169339098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835818 S 2 1 0 "" HuRef dgv7048n71 6 169351181 169409276 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887007,nsv887006 M 6533 0 2 THBS2 MS10311,MS18276 esv1974260 6 169360639 169361582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4816215 S 1 0 1 THBS2 NA18507 nsv887008 6 169367715 169405563 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543483 S 6533 0 1 THBS2 MS16153 nsv5597 6 169371454 169407161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8329 S 9 0 1 THBS2 NA12156 esv28652 6 169375147 169377202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10287,esv14522 M 451 0 3 THBS2 NA12239,NA12776,NA19129 nsv820425 6 169375147 169377202 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420628 S 1 1 0 THBS2 NA10851 esv6700 6 169378317 169378573 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29141 S 1 0 1 THBS2 SJK esv2333023 6 169402162 169402629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4979618 S 1 0 1 "" NA18507 nsv349787 6 169402370 169402445 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368365 M 24 "" nsv887009 6 169410923 169498255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564740 S 6533 1 0 "" IS30292 nsv5599 6 169411685 169430794 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10528 S 9 1 0 "" NA18956 nsv350017 6 169456410 169456590 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368595 M 24 "" nsv349466 6 169482988 169483039 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368044 M 24 "" dgv2039e1 6 169488216 169576118 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23812,esv491,essv9069 M 271 0 0 "" NA12763,NA19132 esv2138594 6 169515815 169516244 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539466 S 1 0 1 "" NA18507 nsv349395 6 169515955 169516016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367973 M 24 "" esv2472575 6 169518295 169519957 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184673 S 1 0 1 "" NA18507 esv2315461 6 169518596 169519127 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4776787 S 1 0 1 "" NA18507 esv990674 6 169518742 169519021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579594 S 3 0 1 "" HuRef esv1485921 6 169518773 169518773 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882854 S 2 1 0 "" HuRef nsv8012 6 169561238 169562822 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14846 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19007 nsv8013 6 169566940 169569039 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15198 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18564 esv989141 6 169567246 169567553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575930 S 3 0 1 "" HuRef nsv823935 6 169597915 169598918 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423473 S 31 0 1 "" NA18999 esv990511 6 169655649 169655649 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568334 S 3 1 0 WDR27 HuRef nsv348472 6 169655651 169655651 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367050 M 24 WDR27 nsv348441 6 169655769 169655769 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367019 M 24 WDR27 nsv5600 6 169689431 169711612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3491 S 9 1 0 WDR27 NA12878 esv988735 6 169708068 169708127 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580301 S 3 0 1 WDR27 HuRef esv1172887 6 169708124 169708184 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098243 S 2 0 1 WDR27 HuRef nsv887010 6 169709169 169908215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564741 S 6533 1 0 C6orf120,C6orf70,PHF10,TCTE3,WDR27 IS30292 nsv830872 6 169711468 169888229 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445815 S 95 0 1 C6orf120,PHF10,TCTE3,WDR27 nsv464223 6 169775458 169833634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540168 S 1557 0 1 WDR27 1780862444_A nsv887011 6 169778234 169855169 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546620 S 6533 0 1 C6orf120,PHF10,WDR27 MS17208 esv2560712 6 169779599 169780935 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203181 S 1 0 1 WDR27 NA18507 esv1984752 6 169779900 169780576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553769 S 1 0 1 WDR27 NA18507 nsv349626 6 169780044 169780370 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368204 M 24 WDR27 esv1477213 6 169785949 169786352 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925816 S 2 0 1 WDR27 HuRef esv1936634 6 169786658 169787248 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613987 S 1 0 1 WDR27 NA18507 esv5868 6 169786720 169787078 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28309 S 1 0 1 WDR27 SJK nsv349459 6 169786750 169787090 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368037 M 24 WDR27 esv2033801 6 169787201 169788253 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648652 S 1 0 1 WDR27 NA18507 esv21513 6 169792989 169793469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20932 S 451 0 1 WDR27 NA19190 esv4341 6 169804524 169805031 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26782 S 1 0 1 Single Asian sample YH WDR27 YH esv989386 6 169809771 169810437 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565425 S 3 1 0 WDR27 HuRef esv24038 6 169865490 169867033 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18195 S 451 0 1 PHF10 NA07045 nsv511329 6 169866357 169882109 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625555 S 1 1 0 "" 1 esv2574170 6 169907381 169908689 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346512 S 1 0 1 C6orf70 NA18507 esv2184238 6 169907694 169908251 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986030 S 1 0 1 C6orf70 NA18507 nsv887012 6 169918332 169949323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530558 S 6533 0 1 C6orf208,C6orf70,LINC00242 MS10311 esv1004909 6 169923797 169933972 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564824 S 3 0 1 C6orf208,LINC00242 HuRef nsv350093 6 169924580 169924726 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368671 M 24 "" nsv521802 6 169939726 169948650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694572 S 2026 0 1 C6orf208,LINC00242 esv2234983 6 169947877 169948533 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917734 S 1 0 1 "" NA18507 esv7326 6 169948061 169948311 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29767 S 1 0 1 "" SJK esv3386 6 169948141 169948628 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25827 S 1 0 1 Single Asian sample YH "" YH esv28157 6 169948259 169951659 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11639,esv17128 M 451 0 2 "" NA12004,NA18511 nsv464224 6 169948650 169996971 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540169 S 1557 0 1 "" NINDS_74 dgv7049n71 6 169949329 170459535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887013,nsv887014 M 6533 0 2 DLL1,FAM120B,LOC154449 IS37646,MS10311 nsv348890 6 169949365 169949416 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367468 M 24 "" esv2557952 6 169970162 169971875 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305584 S 1 0 1 "" NA18507 esv29192 6 169970680 169971425 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19959 S 451 0 1 "" NA15510 esv2389068 6 169970788 169971561 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755119 S 1 0 1 "" NA18507 esv1009229 6 169970843 169971587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565014 S 3 0 1 "" HuRef nsv349995 6 169970873 169971288 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368573 M 24 "" nsv349499 6 169971062 169971381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368077 M 24 "" esv1234036 6 170181606 170181606 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163612 S 2 1 0 "" HuRef esv5298 6 170196651 170197104 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27739 S 1 0 1 Single Asian sample YH "" YH esv2450342 6 170202880 170203660 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324574 S 1 1 0 "" NA18507 esv1356795 6 170203143 170203143 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212073 S 2 1 0 "" HuRef esv1386707 6 170203193 170203193 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719123 S 2 1 0 "" HuRef esv2553151 6 170209453 170210285 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166420 S 1 1 0 "" NA18507 nsv512901 6 170209688 170210332 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625547 S 1 1 0 "" 1 esv26054 6 170211820 170212995 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13194 S 451 1 0 "" NA15510 esv989950 6 170212708 170212909 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574939 S 3 0 1 "" HuRef esv1135829 6 170212710 170212912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603969 S 2 0 1 "" HuRef nsv433381 6 170212794 170224848 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463262 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv887017 6 170212946 170273111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549712 S 6533 0 1 "" MS18276 nsv887018 6 170212946 170286588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528224 S 6533 1 0 "" SP81160 dgv7051n71 6 170212946 170354404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887020,nsv887019 M 6533 0 2 "" IS33248,MS16153 esv2479092 6 170214441 170215445 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275618 S 1 1 0 "" NA18507 esv2563797 6 170221444 170223789 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282955 S 1 0 1 "" NA18507 nsv511932 6 170221807 170223930 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624470 S 1 0 1 "" 1 esv1342423 6 170221902 170221953 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827159 S 2 0 1 "" HuRef nsv511344 6 170222800 170223812 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625723 S 1 0 1 "" 1 nsv830873 6 170226739 170318656 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445816,nssv1445820,nssv1445818,nssv1445819,nssv1445822,nssv1445821,nssv1445824,nssv1445827,nssv1445826,nssv1445823,nssv1445825 M 95 1 10 "" esv2133965 6 170235513 170236289 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786884 S 1 0 1 "" NA18507 nsv509177 6 170240370 170425277 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619468,nssv623497,nssv619470,nssv619469,nssv620873,nssv620874,nssv623498 M 4 3 0 LOC154449 NA10860,NA15510,NA18994 nsv887021 6 170243113 170303181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533539 S 6533 0 1 "" MS11237 nsv5601 6 170243194 170273085 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2747 S 9 1 0 "" NA18555 esv29874 6 170244575 170245192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18684 S 451 0 3 "" NA07037,NA12749,NA19099 esv1008727 6 170244575 170245232 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586105 S 3 1 0 "" HuRef esv1365879 6 170245030 170245030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773634 S 2 1 0 "" HuRef esv1614572 6 170251688 170251688 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134783 S 2 1 0 "" HuRef esv1008557 6 170252287 170252287 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579056 S 3 1 0 "" HuRef esv992988 6 170252326 170252326 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579405 S 3 1 0 "" HuRef esv1292932 6 170252406 170252406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596412 S 2 1 0 "" HuRef nsv823936 6 170253166 170457117 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436693 S 31 1 0 DLL1,LOC154449 NA18542 esv1156440 6 170265447 170265447 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813168 S 2 1 0 "" HuRef esv1005206 6 170265448 170265520 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575718 S 3 0 1 "" HuRef esv1056255 6 170265454 170265527 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3866038 S 2 0 1 "" HuRef dgv7052n71 6 170270481 170303181 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887022,nsv887023 M 6533 0 3 "" IS33797,IS38176,MS10769 esv2516313 6 170270626 170271159 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207288 S 1 1 0 "" NA18507 esv2504738 6 170270893 170271832 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386333 S 1 0 0 "" NA18507 esv1555722 6 170270947 170270947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736381 S 2 1 0 "" HuRef nsv887024 6 170282261 170296985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510727 S 6533 0 1 "" SP54988 esv1531401 6 170283278 170283278 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960827 S 2 1 0 "" HuRef nsv464225 6 170286443 170308783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540170 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00518 nsv524520 6 170287795 170294472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700466 S 2026 0 1 "" nsv525696 6 170287795 170344288 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701856 S 2026 0 1 "" dgv7053n71 6 170287795 170354404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887025,nsv887026 M 6533 2 0 "" IS33044,IS33192 nsv5602 6 170291069 170330909 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8330,nssv605 M 9 2 0 "" NA12156,NA19240 nsv349307 6 170296411 170296653 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367885 M 24 "" esv2444940 6 170297994 170298602 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374919 S 1 1 0 "" NA18507 esv1587955 6 170298148 170298148 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190607 S 2 1 0 "" HuRef esv1368259 6 170298190 170298190 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241742 S 2 1 0 "" HuRef esv1598423 6 170303504 170303504 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905116 S 2 1 0 "" HuRef esv995435 6 170306746 170306805 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567295 S 3 0 1 "" HuRef esv1149552 6 170306746 170306806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203667 S 2 0 1 "" HuRef esv3334 6 170307052 170307605 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25775 S 1 0 1 Single Asian sample YH "" YH esv1010761 6 170307124 170307184 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576751 S 3 0 1 "" HuRef esv1351602 6 170307157 170307218 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345578 S 2 0 1 "" HuRef esv2318694 6 170307187 170307629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926780 S 1 0 1 "" NA18507 esv1538635 6 170307372 170307435 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860239 S 2 0 1 "" HuRef esv1019815 6 170311669 170311951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213944 S 2 0 1 "" HuRef esv1919509 6 170314648 170314982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610904 S 1 0 1 "" NA18507 esv23348 6 170324402 170329648 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11348,esv13177 M 451 28 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12044,NA12239,NA12287,NA12414,NA12749,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 esv2360804 6 170325361 170326072 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530532 S 1 0 1 "" NA18507 nsv820570 6 170325592 170328281 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420629 S 1 0 1 "" NA10851 esv1454842 6 170325634 170325894 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864322 S 2 0 1 "" HuRef esv989256 6 170326012 170327438 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586267 S 3 1 0 "" HuRef esv1421298 6 170326066 170326600 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085704 S 2 0 1 "" HuRef nsv349391 6 170326078 170328506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367969 M 24 "" esv1434662 6 170326628 170328243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920943 S 2 0 1 "" HuRef esv2152584 6 170327638 170328069 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4910939 S 1 0 1 "" NA18507 esv267552 6 170342656 170342996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514615,essv2516800,essv2519216,essv2514202,essv2514870,essv2515487,essv2518046,essv2514430,essv2517591,essv2516256,essv2516823,essv2517309,essv2519024 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA12043,NA12234,NA12249,NA12872,NA12874,NA12878,NA12891,NA12892,NA18970,NA19141 esv273329 6 170342661 170342991 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583939,essv2583338 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1456773 6 170342693 170342693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292456 S 2 1 0 "" HuRef esv1015115 6 170348244 170348396 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265741 S 2 0 1 "" HuRef esv1142424 6 170348723 170348913 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352590 S 2 0 1 "" HuRef nsv5603 6 170368138 170389800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6107 S 9 1 0 "" NA12156 esv994493 6 170369986 170371843 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564346 S 3 1 0 "" HuRef esv24444 6 170370351 170372632 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20110 S 451 0 3 "" NA12044,NA19108,NA19114 nsv821065 6 170370351 170372632 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420630 S 1 1 0 "" NA10851 nsv499701 6 170370392 170372295 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585625 S 9 1 0 "" dgv7054n71 6 170371178 170459535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887029,nsv887027 M 6533 0 4 DLL1,FAM120B,LOC154449 IS39233,MS10769,MS16153,MS17208 esv1434822 6 170371470 170371470 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599587 S 2 1 0 "" HuRef esv1158225 6 170372295 170372295 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4171092 S 2 1 0 "" HuRef esv23793 6 170388314 170389094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9951 S 451 0 4 "" NA15510,NA18505,NA18511,NA19225 esv1542997 6 170388647 170389025 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865964 S 2 0 1 "" HuRef nsv887028 6 170388890 170441310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575043,nssv1549713 M 6533 0 2 DLL1,LOC154449 IS33684,MS18276 nsv523383 6 170395941 170427680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699132 S 2026 0 1 LOC154449 nsv511933 6 170396826 170398464 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624471 S 1 0 1 "" 1 esv2597751 6 170397014 170398746 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285137 S 1 0 1 "" NA18507 esv25553 6 170397133 170398148 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9988 S 451 2 14 "" NA07037,NA07045,NA11993,NA11995,NA12004,NA12414,NA12489,NA12749,NA12828,NA18502,NA18858,NA18861,NA18907,NA19129,NA19190,NA19225 esv2364645 6 170404165 170404610 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784521 S 1 0 1 "" NA18507 nsv887030 6 170405403 170441310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570718 S 6533 0 1 DLL1,LOC154449 IS32322 nsv518303 6 170406005 170408910 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695734 S 2026 0 1 LOC154449 esv998939 6 170406876 170406876 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579849 S 3 1 0 LOC154449 HuRef esv1488056 6 170406897 170406897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899328 S 2 1 0 LOC154449 HuRef nsv464226 6 170414666 170459535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540171 S 1557 0 1 DLL1,FAM120B 1780862019_A esv4727 6 170415693 170416242 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27168 S 1 0 1 Single Asian sample YH "" YH esv2304773 6 170415782 170416263 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630846 S 1 0 1 "" NA18507 esv1625897 6 170416075 170416075 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869468 S 2 1 0 "" HuRef esv2545999 6 170417263 170419406 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175476 S 1 0 1 "" NA18507 esv2249443 6 170417567 170418842 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749070 S 1 0 1 "" NA18507 esv3310 6 170417754 170418775 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25751 S 1 0 1 Single Asian sample YH "" YH esv988043 6 170417764 170418579 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566953 S 3 0 1 "" HuRef esv27179 6 170417768 170418768 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16747 S 451 0 9 "" NA11894,NA18502,NA18858,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147 esv1246902 6 170417827 170418644 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4250134 S 2 0 1 "" HuRef dgv2040e1 6 170423676 170686234 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24,essv14594,essv22093,essv20351,essv19683,essv24707,essv13430,essv10520,essv22776,essv18974,essv23575,essv10283 M 271 0 0 DLL1,FAM120B,MIR4644,PSMB1 NA07019,NA11829,NA12005,NA12006,NA12154,NA12236,NA12264,NA18506,NA18991,NA19093,NA19192,NA19240 esv344 6 170423676 170851844 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 DLL1,FAM120B,MIR4644,PDCD2,PSMB1,TBP nsv428158 6 170423676 170851844 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450896,nssv450895 M 62 2 0 DLL1,FAM120B,MIR4644,PDCD2,PSMB1,TBP NA19096,NA19181 esv1006257 6 170426076 170426155 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584240 S 3 0 1 "" HuRef nsv348998 6 170426143 170426222 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv367576 M 24 "" nsv823937 6 170439746 170456779 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426746 S 31 1 0 DLL1 AK6 nsv8015 6 170446095 170448530 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15938,nssv17001 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18860 nsv8016 6 170469384 170472950 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15968 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM120B NA12155 nsv8017 6 170493914 170496025 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17007,nssv16963,nssv14905 M 31 2 1 Samples from several populations that are part of the HapMap project. FAM120B NA18504,NA18980,NA19132 dgv7055n71 6 170495236 170658972 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887032,nsv887031 M 6533 2 0 FAM120B MS10227,MS23194 nsv509178 6 170523447 170542256 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623499,nssv620875 M 4 2 0 FAM120B NA15510,NA18994 nsv510954 6 170523447 170547079 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618656 S 4 0 0 FAM120B CHM esv28253 6 170527819 170528864 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17666 S 451 0 32 FAM120B NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv8018 6 170527834 170529287 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16993,nssv15998,nssv15228,nssv15268,nssv17031,nssv14717,nssv15456,nssv15244,nssv16572,nssv14585,nssv15183,nssv14170,nssv15871,nssv14985,nssv14887,nssv15359,nssv17333,nssv14935,nssv17037,nssv17880,nssv13819,nssv14840,nssv14452,nssv14544,nssv14582 M 31 0 25 Samples from several populations that are part of the HapMap project. FAM120B NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA18502,NA18504,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv499527 6 170527920 170528937 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585626 S 9 1 0 FAM120B esv995563 6 170527934 170528864 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586462 S 3 0 1 FAM120B HuRef nsv511934 6 170528753 170558001 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624472 S 1 0 1 FAM120B 1 nsv522949 6 170529596 170554104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698616 S 2026 0 1 FAM120B esv33609 6 170532096 170538268 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99502 S 51 1 0 FAM120B 22335 nsv5604 6 170534375 170538461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2632 S 9 1 0 FAM120B NA18555 nsv5605 6 170538572 170568419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6109,nssv9899,nssv3492,nssv4957 M 9 4 0 FAM120B NA12156,NA12878,NA18507,NA19129 esv1391753 6 170545698 170545698 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628019 S 2 1 0 FAM120B HuRef nsv509179 6 170547079 170568044 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619471 S 4 1 0 FAM120B NA10860 esv1000363 6 170548601 170549528 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564486 S 3 1 0 FAM120B HuRef nsv8019 6 170549308 170551771 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14612,nssv15901,nssv14200,nssv16028,nssv17910,nssv14917,nssv14615,nssv17067,nssv15909,nssv15213,nssv16602,nssv15486,nssv15389,nssv17061,nssv15274,nssv17023,nssv17654 M 31 17 0 Samples from several populations that are part of the HapMap project. FAM120B NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18860,NA19132,NA19173,NA19221,NA19240 nsv821571 6 170549314 170551386 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420631 S 1 0 1 FAM120B NA10851 esv25729 6 170549391 170551333 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10049 S 451 31 0 FAM120B NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18861,NA18909,NA18916,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv993022 6 170549391 170551333 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586221 S 3 1 0 FAM120B HuRef esv1002776 6 170551329 170553163 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564120 S 3 1 0 FAM120B HuRef dgv7056n71 6 170554104 170689106 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887035,nsv887033 M 6533 2 0 FAM120B,PSMB1 IS30322,IS38075 dgv7057n71 6 170560474 170617601 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887034,nsv887036 M 6533 0 2 "" IS37646,MS10311 esv1287798 6 170572753 170572753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590775 S 2 1 0 "" HuRef esv2380169 6 170586222 170586588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4656495 S 1 0 1 "" NA18507 esv1948986 6 170595079 170595483 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4527895 S 1 0 1 "" NA18507 esv2462021 6 170597353 170598093 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162228 S 1 1 0 "" NA18507 esv2569238 6 170600725 170601520 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185804 S 1 1 0 "" NA18507 esv1449250 6 170601103 170601103 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100452 S 2 1 0 "" HuRef dgv7058n71 6 170602082 170655714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887040,nsv887037,nsv887041,nsv887039,nsv887038 M 6533 0 13 "" IS30645,IS35676,MS10102,MS10168,MS12943,MS15686,MS16032,MS18432,MS19356,MS24223,MS24584,MS24900,SP56690 esv2637143 6 170603743 170604555 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296665 S 1 1 0 "" NA18507 esv2306098 6 170603917 170604390 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986043 S 1 0 1 "" NA18507 nsv8020 6 170606314 170620136 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14870,nssv15273,nssv16632,nssv17393,nssv17363,nssv15243,nssv17940,nssv17684,nssv14645,nssv15479,nssv14642,nssv17714,nssv15419,nssv17127,nssv15516,nssv17053 M 31 8 8 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA18502,NA18504,NA18517,NA18853,NA18972,NA19132,NA19173,NA19221 nsv823938 6 170608579 170611265 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437489 S 31 0 1 "" NA18949 esv24321 6 170608754 170611184 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11190 S 451 0 22 "" NA07037,NA07045,NA11894,NA12004,NA12044,NA12156,NA12239,NA12489,NA12776,NA12878,NA15510,NA18505,NA18508,NA18517,NA18861,NA18907,NA18909,NA18916,NA19129,NA19225,NA19240,NA19257 esv1150849 6 170609230 170609807 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679127 S 2 0 1 "" HuRef nsv511935 6 170609421 170611075 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624473 S 1 0 1 "" 1 esv1565325 6 170610289 170610466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728187 S 2 0 1 "" HuRef dgv1080n67 6 170610358 170611213 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823939,nsv823940 M 31 0 2 "" NA18968,NA18969 esv28062 6 170617134 170619054 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15522 S 451 0 1 "" NA19129 nsv349602 6 170617190 170617243 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv368180 M 24 "" dgv7059n71 6 170618359 170646007 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887042,nsv887043,nsv887045 M 6533 0 4 "" MS19003,MS20872,MS23957,SP57700 dgv7060n71 6 170618359 170655714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887046,nsv887044,nsv887047 M 6533 0 10 "" MS10728,MS11204,MS13408,MS13735,MS16176,SP51062,SP52656,SP54461,SP55547,SP81464 esv2557810 6 170619780 170621393 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327474 S 1 0 1 "" NA18507 esv29076 6 170620203 170621417 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14821 S 451 0 5 "" NA07037,NA07045,NA12044,NA12156,NA18916 esv1438199 6 170620397 170620826 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770677 S 2 0 1 "" HuRef esv2625331 6 170625327 170626260 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215334 S 1 1 0 "" NA18507 nsv8021 6 170644734 170649050 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15406,nssv14876,nssv16662,nssv17453,nssv14574,nssv15509,nssv13691,nssv17774 M 31 1 7 Samples from several populations that are part of the HapMap project. "" NA12872,NA18502,NA18517,NA18552,NA18972,NA18975,NA19007,NA19173 esv26474 6 170645852 170648148 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10501 S 451 0 9 "" NA07045,NA12489,NA18505,NA18508,NA18517,NA18523,NA18916,NA19114,NA19257 esv1270991 6 170646450 170646684 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263385 S 2 0 1 "" HuRef esv1165818 6 170646843 170647283 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811026 S 2 0 1 "" HuRef esv1500120 6 170647301 170647535 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298140 S 2 0 1 "" HuRef esv1483342 6 170647652 170647652 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590702 S 2 1 0 "" HuRef nsv518447 6 170649731 170674695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695885 S 2026 0 1 "" esv23546 6 170652031 170654151 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20519,esv12497 M 451 0 3 "" NA18505,NA18916,NA19225 esv2123656 6 170653189 170653782 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823628 S 1 0 1 "" NA18507 esv4986 6 170653554 170654028 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27427 S 1 0 1 Single Asian sample YH "" YH esv2558964 6 170658042 170660312 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198448 S 1 0 1 "" NA18507 dgv2041e1 6 170663142 170851844 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14781,essv4707 M 271 0 0 PDCD2,PSMB1,TBP NA18622,NA19159 nsv830874 6 170689738 170880179 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445829 S 95 0 1 PDCD2,PSMB1,TBP nsv887048 6 170761395 170899992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592636 S 6533 1 0 "" IS39243 nsv821102 6 170773423 170832330 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420632 S 1 0 1 "" NA10851 esv28597 6 170773423 170896961 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10380,esv11730,esv12519,esv15275,esv10890,esv21185 M 451 13 8 "" NA07045,NA11894,NA11995,NA12006,NA12239,NA12287,NA12749,NA12776,NA12878,NA15510,NA18505,NA18511,NA18523,NA18858,NA18907,NA18909,NA19099,NA19129,NA19190,NA19225,NA19257 nsv8022 6 170774220 170887430 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17113,nssv15569,nssv17121,nssv15546,nssv15304,nssv13849,nssv15539,nssv14675,nssv15015,nssv14947,nssv14230 M 31 3 7 Samples from several populations that are part of the HapMap project. "" NA10839,NA10847,NA10863,NA11830,NA12802,NA18504,NA18537,NA18572,NA18860,NA19173 esv32645 6 170780978 170867418 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96786,essv101332,essv94414,essv95344,essv97361,essv99236 M 51 0 6 "" 21659,21805,21808,21872,21879,22275 nsv5606 6 170860786 170893852 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8332 S 9 1 0 "" NA12156 dgv114n17 6_cox_hap1 1306188 1313208 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437485,nsv437486,nsv437483,nsv437487 M 60 0 4 "" NA18506,NA19129,NA19139,NA19202 nsv437484 6_cox_hap1 1306188 1322149 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467365 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19094 dgv115n17 6_cox_hap1 1313208 1322149 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437488,nsv437489 M 60 0 2 "" NA18506,NA19202 nsv437495 6_cox_hap1 2732206 2734289 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467376 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19100 nsv437965 6_cox_hap1 3904762 3941448 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468746,nssv468747,nssv468745 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19119,NA19120 dgv117n17 6_cox_hap1 3957889 3973250 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437498,nsv437499 M 60 0 2 "" NA18872,NA19139 nsv437497 6_cox_hap1 3961960 3965264 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467378 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19202 dgv7061n71 7 1 176320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887050,nsv887053,nsv887052,nsv887049,nsv887051 M 6533 14 0 "" IS30771,IS31082,IS31286,IS31581,IS31904,IS35027,IS35145,IS35717,IS37059,IS37226,IS38231,IS41043,MS11497,MS15704 nsv821251 7 34035 136051 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420633 S 1 0 1 "" NA10851 esv28456 7 34035 177044 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12045,esv15805,esv19021,esv9941,esv12130,esv19598,esv12674,esv12023 M 451 13 22 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19257 nsv428159 7 42475 311691 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450913,nssv450915,nssv450907,nssv450910,nssv450911,nssv450905,nssv450912 M 62 7 0 FAM20C HGDP00450,HGDP00467,HGDP00474,HGDP00476,HGDP01093,NA19181,NA19257 nsv469539 7 47371 142560 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649649 M 265 0 0 Samples from several populations that are part of the HapMap project. "" esv1007326 7 60793 63998 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586309 S 3 0 1 "" HuRef dgv7062n71 7 90134 176320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887055,nsv887056,nsv887054,nsv887057 M 6533 6 0 "" IS30593,IS37752,IS38515,MS13490,MS14305,MS17056 nsv8023 7 105852 175838 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14900,nssv17157,nssv16692,nssv14930,nssv17834,nssv15258,nssv15303,nssv17804,nssv15576,nssv15333,nssv16058,nssv14604,nssv15334,nssv14705,nssv15599,nssv14807,nssv14906,nssv15939,nssv15364,nssv13879,nssv17187 M 31 8 11 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA18502,NA18517,NA18563,NA18564,NA18572,NA18853,NA18975,NA19007,NA19132,NA19173 dgv2042e1 7 106471 298664 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv684,essv15647,essv1840,essv12266,essv24130,essv19635,essv7608,essv2696,essv10105,essv21672,essv19663,esv701,essv19769,essv12708,essv20089 M 271 0 0 FAM20C NA07048,NA10835,NA10847,NA12155,NA12248,NA12264,NA18545,NA18912,NA18914,NA18967,NA18975,NA18976,NA19101,NA19130 dgv7063n71 7 115877 176320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887061,nsv887064,nsv887058,nsv887060,nsv887062,nsv887059 M 6533 24 0 "" IS30080,IS30135,IS30177,IS30316,IS30365,IS33419,IS33547,IS33800,IS34066,IS35561,IS35963,IS38610,IS39676,MS13230,MS13253,MS18176,SP51109,SP51158,SP52835,SP55424,SP55642,SP56004,SP56224,SP57266 nsv887063 7 115877 176320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589355,nssv1588855,nssv1593718,nssv1587426,nssv1595578,nssv1523180,nssv1575298,nssv1599715,nssv1600940,nssv1581791,nssv1590870,nssv1564668,nssv1599793,nssv1574041,nssv1520445,nssv1595212,nssv1545976,nssv1541498,nssv1567871,nssv1599828,nssv1559442,nssv1558343,nssv1578455,nssv1569022,nssv1548877,nssv1566401,nssv1579930,nssv1558453,nssv1582586,nssv1549353,nssv1557016,nssv1586506,nssv1585692,nssv1524872,nssv1562871,nssv1530204,nssv1527116,nssv1589512,nssv1558884,nssv1593734,nssv1563713,nssv1551925,nssv1547819,nssv1584054,nssv1597544,nssv1561379,nssv1598341,nssv1526379,nssv1527610,nssv1533858,nssv1589551,nssv1579454,nssv1583156,nssv1564461,nssv1594365,nssv1529156,nssv1565491,nssv1587223,nssv1570175,nssv1585169,nssv1539047,nssv1578240,nssv1553809 M 6533 62 1 "" IS30051,IS30218,IS30278,IS30432,IS30683,IS31166,IS31396,IS31821,IS33504,IS33696,IS34742,IS34779,IS35102,IS35189,IS35726,IS36022,IS36287,IS36787,IS37326,IS37621,IS37841,IS37996,IS38050,IS38262,IS38342,IS38378,IS38380,IS38598,IS39503,IS39509,IS39792,IS40169,IS40267,IS40940,IS41068,IS41774,IS41788,IS41798,IS41948,MS10241,MS11307,MS14068,MS15340,MS17085,MS17572,MS17902,MS18195,MS19011,MS20305,MS22327,MS23227,MS23258,MS23587,MS23977,MS24968,MS25756,SP51065,SP53732,SP55349,SP57534,SP58166,SP58558,SP81461 dgv7064n71 7 115877 292350 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887065,nsv887066,nsv887097 M 6533 3 0 FAM20C IS40557,SP50573,SP52064 nsv830875 7 120498 323409 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445830,nssv1445831 M 95 2 0 FAM20C dgv7065n71 7 132529 166359 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887072,nsv887071,nsv887068,nsv887074,nsv887067,nsv887073 M 6533 35 0 "" IS35833,SP50017,SP50029,SP50085,SP50116,SP50128,SP50562,SP50826,SP50989,SP51061,SP51104,SP51238,SP52101,SP52338,SP52409,SP52588,SP52858,SP53528,SP54356,SP54367,SP54395,SP54406,SP54442,SP54448,SP54734,SP54766,SP54782,SP55637,SP55749,SP56047,SP56154,SP56380,SP57273,SP57472,SP80913 dgv7066n71 7 132529 180194 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887077,nsv887069,nsv887082,nsv887087,nsv887076,nsv887075 M 6533 173 0 "" IS30085,IS30138,IS30515,IS31225,IS31390,IS31651,IS31652,IS31706,IS31728,IS31765,IS32150,IS32727,IS32763,IS32843,IS33460,IS33566,IS34755,IS35169,IS35196,IS35253,IS35908,IS37743,IS37991,IS38362,IS38521,IS39250,IS39352,IS39780,IS40223,IS40503,IS41768,MS10103,MS10106,MS10401,MS10591,MS10686,MS10784,MS11494,MS11505,MS11657,MS12721,MS12823,MS13157,MS13162,MS13241,MS13252,MS13703,MS13867,MS13871,MS14085,MS14296,MS14353,MS14384,MS14566,MS14804,MS14855,MS14986,MS15048,MS15218,MS15337,MS15341,MS15541,MS15727,MS15925,MS16049,MS16055,MS16074,MS16107,MS16152,MS16206,MS16376,MS16385,MS16722,MS17126,MS17373,MS17658,MS17718,MS17974,MS18123,MS18175,MS18217,MS18251,MS18273,MS18387,MS18451,MS18537,MS18540,MS18715,MS18894,MS19321,MS19437,MS19503,MS20008,MS20718,MS20891,MS21194,MS21428,MS21628,MS21780,MS22728,MS23031,MS23054,MS23117,MS23163,MS23236,MS23412,MS23626,MS23685,MS24135,MS24141,MS24447,MS25092,MS25884,MS25887,MS26110,SP50103,SP50137,SP50554,SP50830,SP50896,SP51102,SP52039,SP52113,SP52264,SP52308,SP52332,SP52633,SP52787,SP52889,SP52893,SP53491,SP53705,SP53709,SP54048,SP54197,SP54220,SP54429,SP54792,SP54838,SP55269,SP55426,SP55822,SP55847,SP56125,SP56633,SP56882,SP56887,SP56991,SP57044,SP57564,SP57575,SP57634,SP58091,SP58409,SP58433,SP80909,SP80914,SP80960,SP80961,SP80968,SP80971,SP81132,SP81188,SP81212,SP81250,SP81364,SP81469,SP81495,SP81500,SP81503,SP81504,SP81526,SP81533 dgv1081n67 7 135978 164134 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823942,nsv823945,nsv823941 M 31 4 0 "" AK18,AK4,AK6,NA18526 nsv823944 7 135978 175832 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434479 S 31 1 0 "" NA18570 nsv887070 7 136005 157726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514131 S 6533 0 1 "" SP55947 dgv7067n71 7 136005 247723 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887078,nsv887093 M 6533 2 0 "" MS25625,MS26001 esv2421918 7 138342 164003 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117451,essv5086276,essv5150404,essv5145421,essv5062793,essv5019760,essv5022693,essv5105350,essv5033984,essv5055159,essv5058723,essv5056664,essv5090645,essv5024694,essv5124511,essv5105390,essv5014595,essv5088833,essv5135456,essv5051877,essv5087944,essv5024109,essv5091692,essv5159693,essv5122264,essv5117428,essv5002306,essv5101373,essv5091244,essv5130807,essv5083887,essv5153716,essv5068532,essv5035756,essv5056274,essv5112485,essv5022349,essv5036329,essv5122197,essv5137422,essv5083607,essv5026131,essv5129896,essv5023058,essv5143054,essv5054110,essv5144311,essv5052645,essv5146499,essv5103356,essv5086911,essv5103063,essv5025657,essv5071165,essv5111249,essv5138965,essv5043154,essv5161193,essv5070625,essv5047171,essv5101640,essv5040571,essv5148078,essv5131652,essv5013223,essv5066530,essv5068504,essv5014959,essv5136798,essv5145847,essv5034850,essv5089485,essv5108090,essv5055308,essv5029188,essv5095801,essv5132495,essv5140732,essv5066725,essv5135009,essv5008427,essv5041914,essv5063296,essv5107177,essv5085404,essv5070728,essv5027469,essv5013930,essv5069525,essv5036128,essv5101983,essv5002462,essv5147503,essv5047852,essv5120219,essv5123325,essv5157265,essv5030263,essv5062314,essv5070833,essv5005029,essv5091724,essv5109318,essv5100235,essv5060992,essv5125525,essv5154841,essv5071875,essv5086125,essv5139418,essv5137757,essv5053674,essv5022532,essv5103900,essv5071241,essv5094247,essv5009000,essv5101586,essv5122491,essv5107433,essv5139767,essv5102135,essv5095582 M 1184 123 0 "" NA07345,NA10839,NA11843,NA12006,NA12282,NA12376,NA12489,NA12763,NA12874,NA12889,NA17974,NA17976,NA17989,NA17993,NA17996,NA18102,NA18112,NA18114,NA18124,NA18127,NA18134,NA18143,NA18153,NA18158,NA18161,NA18515,NA18517,NA18524,NA18526,NA18548,NA18562,NA18570,NA18577,NA18617,NA18618,NA18621,NA18640,NA18670,NA18757,NA18862,NA18943,NA18946,NA18952,NA18954,NA18959,NA18966,NA18970,NA19001,NA19055,NA19060,NA19072,NA19076,NA19079,NA19101,NA19153,NA19159,NA19179,NA19180,NA19318,NA19448,NA19451,NA19651,NA19653,NA19657,NA19659,NA19679,NA19714,NA19750,NA19751,NA19789,NA19790,NA20333,NA20342,NA20343,NA20516,NA20529,NA20543,NA20589,NA20761,NA20774,NA20790,NA20797,NA20818,NA20850,NA20851,NA20854,NA20866,NA20870,NA20875,NA20882,NA20883,NA20889,NA20891,NA20892,NA20895,NA20898,NA20900,NA20908,NA21089,NA21091,NA21097,NA21101,NA21104,NA21109,NA21117,NA21125,NA21382,NA21391,NA21418,NA21421,NA21436,NA21457,NA21479,NA21480,NA21486,NA21582,NA21600,NA21601,NA21620,NA21631,NA21685,NA21693,NA21768 nsv442024 7 138438 163742 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv7068n71 7 139491 166359 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887081,nsv887088,nsv887091,nsv887090,nsv887086,nsv887084,nsv887079,nsv887083,nsv887092,nsv887085,nsv887080,nsv887089 M 6533 36 0 "" SP51440,SP52470,SP52590,SP52729,SP52761,SP53276,SP53287,SP54407,SP54477,SP54517,SP54735,SP54875,SP54892,SP54956,SP55539,SP55567,SP55698,SP55789,SP56005,SP56108,SP56207,SP56234,SP56313,SP56319,SP56842,SP56937,SP57190,SP57238,SP57341,SP57430,SP57501,SP57551,SP57856,SP57925,SP58465,SP80955 esv33499 7 140242 182147 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93897,essv98133,essv92969 M 51 3 0 "" 21634,21772,21939 nsv818472 7 140736 162903 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416447,nssv1415767,nssv1417436,nssv1417254,nssv1416448,nssv1416743 M 112 6 0 "" NA12874,NA18515,NA18517,NA18577,NA18952,NA19159 nsv433382 7 140736 164003 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463263 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 dgv793n27 7 140736 188894 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464232,nsv464227,nsv464233,nsv464231,nsv464229,nsv464230 M 1557 6 0 "" HGDP00078,HGDP00100,HGDP00149,HGDP00392,HGDP00936,HGDP01277 dgv794n27 7 140736 203357 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464234,nsv464241 M 1557 0 2 "" 1780854419_A,HGDP00438 dgv795n27 7 140736 208402 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464236,nsv464235,nsv464237,nsv464238 M 1557 4 0 "" 1780854023_A,HGDP00457,HGDP00538,HGDP01036 nsv516015 7 140736 223289 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700553,nssv689083,nssv689865,nssv687306,nssv675776,nssv665738,nssv660096,nssv662667,nssv672336,nssv666682,nssv702187,nssv681903,nssv677203,nssv678519 M 2026 11 3 "" nsv464240 7 140736 271353 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540185 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00183 nsv471171 7 140736 295765 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544798,nssv544765,nssv544754,nssv544787,nssv544776,nssv544810 M 443 6 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM20C HGDP00064,HGDP00457,HGDP00992,HGDP01036,HGDP01090,HGDP01091 dgv219e55 7 141322 160848 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35049,esv2752148 M 771 2 0 "" BEC_721,NA07034 dgv2043e1 7 141322 166807 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15928,essv23279,essv3633,essv24110,essv19030,essv3686,essv2110,essv3926 M 271 0 0 "" NA07034,NA07048,NA07345,NA18515,NA18943,NA18959,NA18966,NA18970 dgv220e55 7 141322 166807 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752149,esv34206 M 771 2 0 "" BEC_506,NA18970 dgv2044e1 7 141322 189431 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5943,essv8658,essv522,essv17359 M 271 0 0 "" NA18517,NA18577,NA18952,NA19101 dgv7069n71 7 145340 166359 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887095,nsv887094,nsv887096 M 6533 4 0 "" SP50099,SP54803,SP55926,SP56467 dgv7070n71 7 152743 176320 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887098,nsv887099,nsv887100 M 6533 3 0 "" SP55829,SP56373,SP56878 nsv823946 7 155060 158787 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440418 S 31 0 1 "" NA18564 esv2929 7 155201 155521 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25370 S 1 0 1 Single Asian sample YH "" YH essv5632 7 155737 166807 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18579 essv13358 7 158399 189089 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19159 nsv823947 7 161397 327554 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426796 S 31 1 0 FAM20C NA18968 nsv887101 7 164003 292350 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543486 S 6533 0 1 FAM20C MS16153 dgv7071n71 7 176320 224195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887102,nsv887103 M 6533 2 0 "" IS39104,SP55401 nsv464242 7 180194 295765 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540187 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM20C HGDP00064 nsv8024 7 188430 197026 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17151,nssv17483 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18860,NA18972 nsv887104 7 189202 247723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534423 S 6533 0 1 "" MS11579 dgv7072n71 7 194060 281202 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887106,nsv887105 M 6533 2 0 "" IS32999,IS41331 nsv511936 7 197793 199688 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624474 S 1 0 1 "" 1 esv2470093 7 197899 199488 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226253 S 1 0 1 "" NA18507 esv989084 7 198147 198250 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574704 S 3 0 1 "" HuRef esv5266 7 205441 205783 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27707 S 1 0 1 Single Asian sample YH "" YH esv997022 7 205586 205683 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575562 S 3 0 1 "" HuRef esv1514551 7 205586 205684 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988257 S 2 0 1 "" HuRef nsv887107 7 208402 281202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592186 S 6533 0 1 "" IS39233 nsv887108 7 208402 298409 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530561,nssv1524274 M 6533 1 1 FAM20C MS10311,SP54950 esv1084409 7 211097 211097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3633837 S 2 1 0 "" HuRef esv1003808 7 212707 212834 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568628 S 3 0 1 "" HuRef esv1220366 7 212755 212883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064832 S 2 0 1 "" HuRef nsv528153 7 219039 271353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704701 S 2026 0 1 "" nsv523285 7 219039 295765 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699024 S 2026 0 1 FAM20C dgv7073n71 7 224459 307595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887109,nsv887113,nsv887114 M 6533 0 4 FAM20C IS32322,IS33504,MS10123,SP54956 nsv887110 7 224459 795019 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533751,nssv1546622 M 6533 0 2 FAM20C,FLJ44511,HEATR2,PDGFA,PRKAR1B MS11306,MS17208 dgv7074n71 7 224459 1329980 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887111,nsv887127 M 6533 0 2 ADAP1,C7orf50,COX19,CYP2W1,FAM20C,FLJ44511,GET4,GPER,GPR146,HEATR2,MIR339,PDGFA,PRKAR1B,SUN1,UNCX,ZFAND2A IS33504,MS18276 nsv508440 7 233136 265504 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622564 S 4 0 1 "" NA18994 nsv517159 7 234196 250149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654790,nssv661193,nssv679835,nssv676914,nssv677681,nssv672291,nssv662222,nssv659150,nssv682996,nssv653895,nssv665550,nssv656644,nssv693768,nssv672489,nssv679850,nssv667112,nssv681881,nssv655647 M 2026 0 18 "" nsv464243 7 234196 295765 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540188 S 1557 0 1 FAM20C 1780854524_A esv3544 7 235212 235746 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25985 S 1 0 1 Single Asian sample YH "" YH esv2383538 7 235264 235633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739467 S 1 0 1 "" NA18507 esv28854 7 235331 235816 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21138 S 451 1 0 "" NA18861 esv999427 7 235353 235475 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585486 S 3 0 1 "" HuRef nsv887112 7 235418 281202 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592800,nssv1575385,nssv1533540,nssv1561739 M 6533 1 3 "" IS33726,IS39258,MS11237,MS25205 dgv7075n71 7 235418 795019 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887115,nsv887121 M 6533 4 0 FAM20C,FLJ44511,HEATR2,PDGFA,PRKAR1B IS39503,MS15502,SP53838,SP81188 esv1340315 7 235455 235578 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087192 S 2 0 1 "" HuRef nsv5610 7 244624 256725 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2635 S 9 0 1 "" NA18555 nsv887116 7 244848 289330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510728 S 6533 0 1 FAM20C SP54988 dgv7076n71 7 244848 307595 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887118,nsv887117 M 6533 0 5 FAM20C IS33162,IS33178,IS35007,IS35484,IS37646 esv7612 7 246204 255648 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30053 S 1 0 1 "" SJK nsv499629 7 246217 255641 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586014 S 9 0 1 "" dgv1082n67 7 246253 255688 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823950,nsv823951,nsv823949,nsv823948 M 31 0 10 "" AK12,AK20,AK4,AK8,NA18526,NA18542,NA18547,NA18566,NA18951,NA18969 nsv8026 7 246346 254838 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13909,nssv14965,nssv14837,nssv14634 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18563,NA18572,NA18975,NA18980 nsv514403 7 246785 254873 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627856 S 1414 0 1 "" nsv437979 7 246846 249228 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468888,nssv468887,nssv468892,nssv468885,nssv468889,nssv468891,nssv468890 M 269 0 7 Samples from several populations that are part of the HapMap project. "" NA18608,NA18948,NA18953,NA18966,NA18975,NA18978,NA19000 esv2421800 7 247723 253709 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5036174,essv5103913,essv5029398,essv5022778,essv5121364,essv5122314,essv5158631,essv5137061,essv5096014,essv5069413,essv5095242,essv5156084,essv5103674,essv5042200,essv5111425,essv5114932,essv5127982,essv5020968,essv5034528,essv5088391,essv5006341,essv5092800,essv5065055,essv5126664,essv5059851,essv5072595,essv5155071,essv5075658,essv5038314,essv5135980,essv5093272,essv5090611,essv5030498,essv5104186,essv5028816,essv5104655,essv5052845,essv5030144,essv5160187,essv5098198,essv5044014,essv5064630,essv5036796,essv5095640,essv5097579,essv5022285,essv5092281,essv5114820,essv5145731,essv5054514,essv5120143,essv5105289,essv5144197,essv5152442,essv5153704,essv5105814,essv5075084,essv5096097,essv5084226,essv5062933,essv5151505,essv5080295,essv5146047,essv5134849,essv5061277,essv5127814,essv5044379,essv5067681,essv5159498,essv5053055,essv5148743,essv5082397,essv5011150,essv5062359,essv5072679,essv5142094,essv5022845,essv5048266,essv5160970,essv5072771,essv5021299,essv5113100,essv5149482,essv5141581,essv5022521,essv5054418,essv5062115,essv5057194,essv5087226,essv5133822,essv5065979,essv5154114,essv5138269,essv5122661,essv5100093,essv5136920,essv5047295,essv5151001,essv5081002,essv5009446,essv5102150,essv5090662,essv5115122,essv5090349,essv5135518,essv5069812,essv5052844,essv5102718,essv5139213,essv5067699,essv5160216,essv5097510,essv5031849,essv5013543,essv5082615,essv5117648,essv5016417,essv5095724,essv5121789,essv5043144,essv5066490,essv5059627,essv5020088,essv5097301,essv5109687,essv5019047,essv5102630,essv5154197,essv5007582,essv5071193,essv5154207,essv5087051,essv5135679,essv5106391,essv5107902,essv5134443,essv5019797,essv5013488,essv5158402,essv5078445,essv5115416,essv5065833,essv5050401,essv5041993,essv5040128,essv5113671,essv5039506,essv5095645,essv5064643,essv5159913,essv5105256,essv5143878,essv5051011,essv5130677,essv5066379,essv5006542,essv5024749,essv5095954,essv5046680,essv5148770,essv5024282,essv5105275,essv5045604,essv5067368,essv5105059,essv5079327,essv5067574,essv5096427,essv5095043,essv5120601,essv5049503,essv5092846,essv5002421,essv5021230,essv5091513,essv5028890,essv5010327,essv5040356,essv5041180,essv5051053,essv5061205,essv5074268,essv5131526,essv5032975,essv5014087,essv5049542,essv5003467,essv5005723,essv5118057,essv5039856,essv5049513,essv5086863,essv5050438,essv5099886,essv5028573,essv5007146,essv5089969,essv5009342,essv5143337 M 1184 0 199 "" NA10859,NA11882,NA12043,NA12775,NA12777,NA17965,NA17966,NA17968,NA17972,NA17977,NA17979,NA17980,NA17981,NA17982,NA17986,NA17987,NA17988,NA17989,NA17995,NA17998,NA17999,NA18101,NA18105,NA18109,NA18112,NA18114,NA18118,NA18120,NA18122,NA18124,NA18127,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18140,NA18141,NA18143,NA18146,NA18147,NA18148,NA18149,NA18150,NA18153,NA18155,NA18156,NA18157,NA18159,NA18161,NA18162,NA18526,NA18534,NA18536,NA18542,NA18544,NA18546,NA18555,NA18558,NA18559,NA18561,NA18562,NA18563,NA18566,NA18571,NA18572,NA18579,NA18594,NA18595,NA18599,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18613,NA18615,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18626,NA18627,NA18632,NA18633,NA18634,NA18643,NA18645,NA18674,NA18682,NA18685,NA18694,NA18702,NA18745,NA18749,NA18855,NA18940,NA18945,NA18948,NA18951,NA18953,NA18955,NA18961,NA18963,NA18965,NA18966,NA18967,NA18969,NA18971,NA18975,NA18976,NA18978,NA18979,NA18980,NA18990,NA18991,NA18994,NA18995,NA19000,NA19002,NA19009,NA19010,NA19054,NA19057,NA19059,NA19060,NA19062,NA19063,NA19065,NA19077,NA19078,NA19079,NA19083,NA19086,NA19087,NA19088,NA19098,NA19247,NA19249,NA19660,NA19662,NA19685,NA19686,NA19774,NA20342,NA20520,NA20752,NA20753,NA20774,NA20775,NA20799,NA20804,NA20811,NA20852,NA20853,NA20859,NA20861,NA20870,NA20872,NA20873,NA20874,NA20879,NA20882,NA20884,NA20889,NA20895,NA20897,NA20899,NA20900,NA20902,NA20904,NA20909,NA20910,NA21088,NA21089,NA21090,NA21092,NA21100,NA21107,NA21109,NA21111,NA21112,NA21113,NA21117,NA21142,NA21144,NA21356,NA21371,NA21378,NA21403,NA21493,NA21526,NA21527,NA21619 nsv441791 7 250145 253709 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv887119 7 250149 795019 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538411,nssv1537077,nssv1538608,nssv1546321 M 6533 1 3 FAM20C,FLJ44511,HEATR2,PDGFA,PRKAR1B MS13095,MS13727,MS13770,MS17130 esv989798 7 251860 256663 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564576 S 3 1 0 "" HuRef esv1003461 7 256228 256228 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568025 S 3 1 0 "" HuRef esv1394210 7 256283 256283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017589 S 2 1 0 "" HuRef dgv7077n71 7 263110 321136 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887122,nsv887120 M 6533 2 0 FAM20C IS39104,SP56848 nsv366441 7 263539 263539 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385019 M 24 "" nsv509181 7 265504 265504 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623500 S 4 1 0 "" NA18994 esv1105988 7 267993 268083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3745510 S 2 0 1 "" HuRef esv1472135 7 268110 268170 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712628 S 2 0 1 "" HuRef esv1005136 7 272707 273247 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586170 S 3 0 1 "" HuRef esv29068 7 272707 273247 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18060 S 451 22 0 "" NA06985,NA11931,NA12004,NA12239,NA12287,NA12414,NA12489,NA12776,NA15510,NA18502,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19129,NA19147,NA19190,NA19225,NA19257 esv24124 7 287098 289053 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13056 S 451 0 1 FAM20C NA07045 nsv823952 7 294491 299448 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435153 S 31 0 1 FAM20C NA18942 esv27148 7 296803 297934 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13113 S 451 0 1 FAM20C NA18511 esv24248 7 301609 302464 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21289 S 451 0 10 FAM20C NA06985,NA12006,NA12044,NA12156,NA18517,NA18909,NA18916,NA19129,NA19240,NA19257 esv1381494 7 301618 301618 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779032 S 2 1 0 FAM20C HuRef esv1628554 7 301699 301699 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102981 S 2 1 0 FAM20C HuRef esv2541261 7 309887 311897 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290882 S 1 0 1 "" NA18507 esv23578 7 310361 311536 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18090 S 451 22 1 "" NA06985,NA11894,NA11931,NA12004,NA12006,NA12156,NA12414,NA12489,NA12828,NA15510,NA18502,NA18508,NA18523,NA18858,NA18907,NA18909,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv1593047 7 310450 311322 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200295 S 2 0 1 "" HuRef esv23573 7 316046 317121 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10804 S 451 1 0 "" NA18502 esv1006722 7 316046 317181 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586130 S 3 0 1 "" HuRef esv1274787 7 316056 316119 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888479 S 2 0 1 "" HuRef esv988948 7 316083 317193 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565105 S 3 0 1 "" HuRef esv1554494 7 316140 316833 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915233 S 2 0 1 "" HuRef dgv7078n71 7 318150 1063444 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887124,nsv887123,nsv887125,nsv887126 M 6533 0 4 ADAP1,C7orf50,COX19,CYP2W1,FLJ44511,GET4,HEATR2,MIR339,PDGFA,PRKAR1B,SUN1 IS32322,IS34235,IS35484,IS41634 nsv887128 7 318150 1587118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585858 S 6533 0 1 ADAP1,C7orf50,COX19,CYP2W1,FLJ44511,GET4,GPER,GPR146,HEATR2,INTS1,KIAA1908,MAFK,MICALL2,MIR339,PDGFA,PRKAR1B,PSMG3,SUN1,TMEM184A,UNCX,ZFAND2A IS37646 esv25065 7 319151 321126 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19543 S 451 18 3 "" NA06985,NA07045,NA11894,NA11931,NA12004,NA12239,NA12414,NA12878,NA15510,NA18505,NA18508,NA18511,NA18523,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 esv2436771 7 319220 321556 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180500 S 1 0 1 "" NA18507 esv1021366 7 319641 320116 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3991136 S 2 0 1 "" HuRef esv1607109 7 320166 320523 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614745 S 2 0 1 "" HuRef esv1714082 7 320553 320672 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249440 S 2 0 1 "" HuRef nsv823953 7 321419 323057 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435154 S 31 0 1 "" NA18942 dgv1083n67 7 322199 323169 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823955,nsv823956 M 31 2 0 "" NA18949,NA18969 esv2248874 7 325639 326077 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914489 S 1 0 1 "" NA18507 esv1999255 7 481633 482092 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891283 S 1 0 1 "" NA18507 esv4550 7 481708 482304 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26991 S 1 0 1 Single Asian sample YH "" YH esv2613183 7 489132 490199 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235624 S 1 1 0 "" NA18507 esv2950 7 489211 489766 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25391 S 1 0 1 Single Asian sample YH "" YH esv7806 7 489342 489704 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30247 S 1 0 1 "" SJK nsv512902 7 500728 500816 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625548 S 1 1 0 "" 1 esv2166421 7 537640 538068 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868652 S 1 0 1 "" NA18507 esv4959 7 537735 537994 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27400 S 1 0 1 Single Asian sample YH "" YH esv25048 7 557496 559031 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12450 S 451 7 0 PRKAR1B NA12004,NA15510,NA18523,NA18861,NA18916,NA19108,NA19114 esv998846 7 557764 558731 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586487 S 3 1 0 PRKAR1B HuRef esv1089300 7 558002 558248 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3788214 S 2 0 1 PRKAR1B HuRef esv1697450 7 560962 561030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002316 S 2 0 1 PRKAR1B HuRef esv3069 7 572748 573589 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25510 S 1 0 1 Single Asian sample YH PRKAR1B YH esv1611886 7 604631 604699 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966202 S 2 0 1 PRKAR1B HuRef nsv887129 7 607906 640759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509523 S 6533 0 1 PRKAR1B SP54816 esv1339677 7 618475 618475 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823601 S 2 1 0 PRKAR1B HuRef nsv887130 7 624758 647518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509872 S 6533 0 1 PRKAR1B SP54956 nsv887131 7 634124 644128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507536 S 6533 0 1 PRKAR1B SP54725 esv1167523 7 635977 636033 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605047 S 2 0 1 PRKAR1B HuRef dgv7079n71 7 638213 649366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887133,nsv887132 M 6533 0 2 PRKAR1B SP54988,SP55021 esv23027 7 641815 642645 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15315 S 451 0 3 PRKAR1B NA07037,NA15510,NA18916 esv25246 7 648962 649578 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17980 S 451 0 2 PRKAR1B NA19129,NA19240 esv23727 7 666253 671468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11579 S 451 0 1 PRKAR1B NA19240 esv3361 7 745190 745483 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25802 S 1 0 1 Single Asian sample YH HEATR2 YH esv1000798 7 745211 745279 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575860 S 3 0 1 HEATR2 HuRef esv1277926 7 745335 745404 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140736 S 2 0 1 HEATR2 HuRef nsv365954 7 745405 745405 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384532 M 24 HEATR2 esv2366209 7 748351 748771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951138 S 1 0 1 HEATR2 NA18507 esv1519018 7 748789 748789 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617535 S 2 1 0 HEATR2 HuRef nsv366851 7 748823 748898 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385429 M 24 HEATR2 esv992419 7 753620 754783 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565054 S 3 0 1 HEATR2 HuRef esv1364544 7 753856 754088 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364901 S 2 0 1 HEATR2 HuRef esv2624420 7 758253 759205 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391859 S 1 1 0 HEATR2 NA18507 esv1080623 7 758609 758609 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914635 S 2 1 0 HEATR2 HuRef nsv366757 7 774304 774359 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385335 M 24 HEATR2 esv1616267 7 788417 788417 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3952094 S 2 1 0 HEATR2 HuRef nsv887134 7 814798 965328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530562 S 6533 0 1 ADAP1,GET4,SUN1 MS10311 esv1640628 7 840413 840413 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009966 S 2 1 0 SUN1 HuRef esv2485286 7 844865 846284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321763 S 1 0 1 SUN1 NA18507 esv2208128 7 845512 846182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983379 S 1 0 1 SUN1 NA18507 esv994061 7 845639 846845 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564419 S 3 0 1 SUN1 HuRef esv5081 7 845648 846109 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27522 S 1 0 1 Single Asian sample YH SUN1 YH esv997325 7 845679 845981 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576991 S 3 0 1 SUN1 HuRef esv1417298 7 845682 845985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4113199 S 2 0 1 SUN1 HuRef esv5578 7 845693 846022 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28019 S 1 0 1 SUN1 SJK esv275281 7 849173 856342 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585773,essv2585678 M 1250 1 1 SUN1 nsv887135 7 868100 892475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511373 S 6533 0 1 GET4,SUN1 SP55021 esv1504158 7 869477 869477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004902 S 2 1 0 SUN1 HuRef esv1137257 7 872723 872723 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094358 S 2 1 0 SUN1 HuRef dgv7080n71 7 873265 1172009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887136,nsv887138,nsv887139 M 6533 0 3 ADAP1,C7orf50,COX19,CYP2W1,GET4,GPER,GPR146,MIR339,SUN1,ZFAND2A IS33239,IS39233,MS16315 esv1171001 7 874978 874978 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944369 S 2 1 0 SUN1 HuRef nsv464244 7 879281 989254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540189 S 1557 0 1 ADAP1,COX19,GET4,SUN1 NINDS_51 nsv823957 7 880445 881095 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436695 S 31 1 0 SUN1 NA18542 esv1041410 7 882592 882652 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351797 S 2 0 1 "" HuRef esv25170 7 883210 883960 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19036 S 451 0 1 GET4 NA18511 nsv509182 7 887381 1024172 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619472,nssv623501,nssv620876 M 4 3 0 ADAP1,C7orf50,COX19,CYP2W1,GET4 NA10860,NA15510,NA18994 nsv5611 7 890001 916711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3497,nssv4961,nssv607,nssv2748 M 9 4 0 ADAP1,GET4 NA12878,NA18555,NA19129,NA19240 nsv464245 7 892603 1071952 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540190 S 1557 1 0 ADAP1,C7orf50,COX19,CYP2W1,GET4,GPR146,MIR339 1798860071_A esv24184 7 895706 897001 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9944 S 451 2 2 GET4 NA12004,NA12828,NA18508,NA19129 esv1624512 7 896181 896261 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105887 S 2 0 1 GET4 HuRef esv1790011 7 896320 896559 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3592657 S 2 0 1 GET4 HuRef nsv887137 7 896338 965328 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532057 S 6533 1 0 ADAP1,GET4 MS10699 esv1065077 7 908634 908634 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806075 S 2 1 0 ADAP1 HuRef esv1457769 7 911534 912592 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966468 S 2 0 1 ADAP1 HuRef esv1134099 7 912879 912947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045739 S 2 0 1 ADAP1 HuRef nsv887140 7 913762 1005529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587972,nssv1538609 M 6533 0 2 ADAP1,C7orf50,COX19,CYP2W1 IS38144,MS13770 nsv887141 7 913762 1346752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546623 S 6533 0 1 ADAP1,C7orf50,COX19,CYP2W1,GPER,GPR146,MIR339,UNCX,ZFAND2A MS17208 esv3420 7 915239 915790 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25861 S 1 0 1 Single Asian sample YH ADAP1 YH esv1008204 7 915281 915382 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581993 S 3 0 1 ADAP1 HuRef esv1650528 7 915375 915477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934588 S 2 0 1 ADAP1 HuRef esv997493 7 917718 917807 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566014 S 3 0 1 ADAP1 HuRef esv1298219 7 917856 917946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3690625 S 2 0 1 ADAP1 HuRef nsv366410 7 917877 917996 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384988 M 24 ADAP1 nsv512903 7 921197 921688 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625549 S 1 1 0 ADAP1 1 esv1647726 7 923409 923530 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893003 S 2 0 1 ADAP1 HuRef esv2615886 7 936413 937277 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253691 S 1 1 0 ADAP1 NA18507 nsv512904 7 936502 936898 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625550 S 1 1 0 ADAP1 1 esv22202 7 939681 940591 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17667 S 451 1 0 ADAP1 NA07045 esv1612925 7 940140 940320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233680 S 2 0 1 ADAP1 HuRef nsv366941 7 943210 943210 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385519 M 24 ADAP1 esv29574 7 943220 943930 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10979 S 451 2 0 ADAP1 NA11995,NA12776 esv1175595 7 943258 943310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185234 S 2 0 1 ADAP1 HuRef esv1704339 7 943587 943697 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821904 S 2 0 1 ADAP1 HuRef nsv887142 7 943615 1050303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586476 S 6533 1 0 ADAP1,C7orf50,COX19,CYP2W1,MIR339 IS37825 esv1449576 7 943900 943900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048458 S 2 1 0 ADAP1 HuRef nsv511937 7 948519 950767 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624475 S 1 0 1 ADAP1 1 dgv7081n71 7 952366 1121463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887153,nsv887155,nsv887143,nsv887145,nsv887154 M 6533 0 6 ADAP1,C7orf50,COX19,CYP2W1,GPER,GPR146,MIR339 IS34235,MS10386,MS11237,MS11306,MS11726,SP54956 dgv7082n71 7 954145 1071952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887144,nsv887147 M 6533 0 2 ADAP1,C7orf50,COX19,CYP2W1,GPR146,MIR339 IS38293,MS10311 dgv7083n71 7 954145 1172009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887146,nsv887148 M 6533 0 2 ADAP1,C7orf50,COX19,CYP2W1,GPER,GPR146,MIR339,ZFAND2A IS32841,IS33601 esv22922 7 959686 961209 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18821 S 451 0 1 ADAP1 NA07045 nsv823958 7 974810 980935 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435155 S 31 0 1 COX19 NA18942 nsv887149 7 986798 1005153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499276 S 6533 0 1 C7orf50,CYP2W1 SP50159 dgv7084n71 7 986798 1071952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887150,nsv887152 M 6533 0 2 C7orf50,CYP2W1,GPR146,MIR339 IS34407,MS17522 dgv7085n71 7 986798 1150490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887156,nsv887159,nsv887151 M 6533 0 6 C7orf50,CYP2W1,GPER,GPR146,MIR339 IS33797,IS35484,IS37172,IS40230,MS10311,MS16153 nsv482099 7 989361 995802 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558460 S 1 1 0 CYP2W1 KB1 esv25014 7 1007397 1010192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21361 S 451 0 1 C7orf50 NA19114 esv1168586 7 1022753 1022816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347685 S 2 0 1 C7orf50 HuRef esv1257857 7 1023035 1023035 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063898 S 2 1 0 C7orf50 HuRef esv1298174 7 1023050 1023050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959760 S 2 1 0 C7orf50 HuRef dgv7086n71 7 1026814 1054491 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887162,nsv887157 M 6533 0 2 C7orf50,MIR339 SP54043,SP55021 nsv887158 7 1028892 1121463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574117 S 6533 0 1 C7orf50,GPER,GPR146,MIR339 IS33514 dgv7087n71 7 1028892 1346752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887160,nsv887161 M 6533 0 2 C7orf50,GPER,GPR146,MIR339,UNCX,ZFAND2A IS41634,MS10769 nsv509183 7 1046727 1103652 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619473 S 4 1 0 C7orf50,GPER,GPR146 NA10860 nsv823959 7 1051152 1055137 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435156 S 31 0 1 C7orf50 NA18942 nsv823960 7 1064964 1066231 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436697 S 31 1 0 C7orf50,GPR146 NA18542 nsv887163 7 1068767 1093185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511375 S 6533 0 1 C7orf50,GPER SP55021 esv28196 7 1079770 1080506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20314 S 451 0 2 C7orf50 NA12004,NA18511 nsv5612 7 1081855 1116461 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2750 S 9 1 0 C7orf50,GPER NA18555 nsv830876 7 1084173 1246730 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445832,nssv1445834,nssv1445833,nssv1445835 M 95 0 4 C7orf50,GPER,UNCX,ZFAND2A esv988130 7 1085089 1085147 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568679 S 3 0 1 C7orf50 HuRef esv1030117 7 1085099 1085158 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643900 S 2 0 1 C7orf50 HuRef esv2067416 7 1087718 1088130 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510624 S 1 0 1 C7orf50 NA18507 nsv365634 7 1087859 1087915 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384212 M 24 C7orf50 esv29179 7 1121194 1123959 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15857 S 451 2 1 C7orf50 NA07045,NA18505,NA19099 nsv820743 7 1121194 1123959 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420634 S 1 0 1 C7orf50 NA10851 nsv8027 7 1121402 1124230 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15363,nssv14960,nssv15629,nssv13939,nssv14482,nssv17864,nssv15045,nssv14795,nssv13721,nssv14664 M 31 8 2 Samples from several populations that are part of the HapMap project. C7orf50 NA07048,NA10847,NA12872,NA18517,NA18537,NA18572,NA18853,NA18942,NA18975,NA19173 nsv365945 7 1123077 1123687 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384523 M 24 C7orf50 nsv522801 7 1127684 1158215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698446 S 2026 0 1 C7orf50 nsv508441 7 1132164 1180766 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622566 S 4 0 1 C7orf50,ZFAND2A NA18994 esv2398682 7 1133616 1134268 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4820197 S 1 0 1 C7orf50 NA18507 nsv511938 7 1133644 1136044 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624476 S 1 0 1 C7orf50 1 esv2547704 7 1150452 1154446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188700 S 1 0 1 "" NA18507 esv988570 7 1150914 1154945 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563706 S 3 0 1 "" HuRef esv1998873 7 1151416 1154377 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627473 S 1 0 1 "" NA18507 nsv511939 7 1151553 1154255 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624478 S 1 0 1 "" 1 nsv366720 7 1151591 1154180 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385298 M 24 "" esv7820 7 1151595 1154194 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30261 S 1 0 1 "" SJK esv1136247 7 1151604 1154194 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758540 S 2 0 1 "" HuRef nsv471182 7 1158215 1560184 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544854,nssv544832,nssv544887,nssv544876,nssv544843,nssv544865,nssv544821 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations INTS1,MAFK,MICALL2,TMEM184A,UNCX,ZFAND2A HGDP00302,HGDP00328,HGDP00546,HGDP00550,HGDP00661,HGDP00789,HGDP01397 esv2499925 7 1161802 1163404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176859 S 1 0 1 ZFAND2A NA18507 esv2110851 7 1162074 1162803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916996 S 1 0 1 ZFAND2A NA18507 esv1295388 7 1162321 1162510 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117220 S 2 0 1 ZFAND2A HuRef dgv2045e1 7 1165621 1656473 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv237,essv14108 M 271 0 0 INTS1,KIAA1908,MAFK,MICALL2,PSMG3,TFAMP1,TMEM184A,UNCX,ZFAND2A NA18861 esv1724460 7 1165797 1165996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314059 S 2 0 1 ZFAND2A HuRef nsv830877 7 1166807 1275605 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445836,nssv1445837 M 95 0 2 UNCX esv1338400 7 1178556 1178731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785090 S 2 0 1 "" HuRef nsv509184 7 1180766 1203664 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618062,nssv619474,nssv623502 M 4 3 0 "" CHM,NA10860,NA18994 nsv887164 7 1182738 1314443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570721 S 6533 0 1 UNCX IS32322 nsv365981 7 1190005 1190449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384559 M 24 "" nsv5613 7 1193143 1231664 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4962,nssv10531,nssv608,nssv6111 M 9 4 0 "" NA12156,NA18956,NA19129,NA19240 esv988082 7 1201757 1203089 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565118 S 3 1 0 "" HuRef esv29537 7 1202155 1203126 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10603 S 451 2 8 "" NA07037,NA12004,NA12156,NA12414,NA15510,NA18505,NA18517,NA18861,NA18916,NA19114 esv998510 7 1202215 1203051 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586767 S 3 1 0 "" HuRef esv1703402 7 1202259 1202332 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011472 S 2 0 1 "" HuRef dgv7088n71 7 1211041 1518242 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887169,nsv887165,nsv887173 M 6533 0 3 INTS1,MICALL2,UNCX IS33601,IS35484,MS16153 nsv887166 7 1224774 1263932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510730 S 6533 0 1 UNCX SP54988 nsv823961 7 1225953 1272924 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436698 S 31 1 0 UNCX NA18542 dgv1084n67 7 1226310 1261475 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823964,nsv823963,nsv823962 M 31 3 0 UNCX AK6,NA18949,NA18969 dgv7089n71 7 1227162 1314443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887168,nsv887167 M 6533 0 5 UNCX IS32918,IS33248,IS33630,IS34005,MS17522 dgv7090n71 7 1227162 1573373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887185,nsv887174,nsv887170,nsv887176 M 6533 0 4 INTS1,MAFK,MICALL2,TMEM184A,UNCX IS32737,IS32841,IS33684,MS16315 esv998222 7 1227992 1233384 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564229 S 3 0 1 "" HuRef dgv1085n67 7 1236062 1244807 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823966,nsv823967 M 31 2 0 UNCX NA18526,NA18972 nsv887171 7 1241108 1314443 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577924 S 6533 1 0 UNCX IS34599 nsv887172 7 1241108 1394979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592188 S 6533 0 1 UNCX IS39233 esv23542 7 1242477 1243363 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16879 S 451 0 1 UNCX NA07045 nsv887175 7 1255805 1314443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535502 S 6533 0 1 "" MS12262 nsv5614 7 1266569 1296371 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8333,nssv2636,nssv3498 M 9 3 0 "" NA12156,NA12878,NA18555 nsv823968 7 1271388 1272270 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421771 S 31 1 0 "" NA18997 nsv823969 7 1271388 1272996 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438901 S 31 0 1 "" NA18973 nsv509185 7 1275067 1287589 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619476,nssv623503 M 4 2 0 "" NA10860,NA18994 nsv8028 7 1277037 1282168 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14936,nssv14867,nssv14977,nssv13969,nssv15288,nssv17181,nssv15394,nssv17513,nssv16118,nssv16722,nssv15393,nssv14995,nssv14694,nssv17970,nssv13781,nssv15931 M 31 16 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA11830,NA12155,NA12872,NA18502,NA18563,NA18564,NA18572,NA18860,NA18972,NA18975,NA18980,NA19007,NA19221,NA19240 esv28113 7 1277956 1280346 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12774,esv17213,esv13235 M 451 9 4 "" NA07045,NA12004,NA15510,NA18502,NA18858,NA18861,NA18907,NA19108,NA19129,NA19190,NA19225,NA19257 nsv433383 7 1278335 1296095 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463264 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18517 esv1002670 7 1279326 1280346 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586424 S 3 0 1 "" HuRef esv1516057 7 1279614 1280150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617313 S 2 0 1 "" HuRef nsv511940 7 1284978 1287399 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624479 S 1 0 1 "" 1 dgv34e194 7 1286595 1287450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1978593,esv2257917 M 1 0 1 "" NA18507 esv1257306 7 1286928 1287244 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238341 S 2 0 1 "" HuRef dgv7091n71 7 1287202 1346752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887177,nsv887178,nsv887182 M 6533 0 5 "" IS30369,IS31656,IS39258,IS40297,SP54956 dgv7092n71 7 1287202 1508650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887179,nsv887180,nsv887181 M 6533 0 3 INTS1,MICALL2 IS40230,MS10311,MS18276 dgv7093n71 7 1290871 1820789 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887183,nsv887186,nsv887198 M 6533 0 3 ELFN1,INTS1,KIAA1908,MAFK,MICALL2,PSMG3,TFAMP1,TMEM184A MS10123,MS10769,MS17208 esv8101 7 1301482 1301718 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30542 S 1 0 1 "" SJK esv1112000 7 1309748 1309801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205542 S 2 0 1 "" HuRef nsv887184 7 1315064 1467240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589079 S 6533 0 1 MICALL2 IS38293 nsv830878 7 1322210 1518105 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445838,nssv1445846,nssv1445840,nssv1445845,nssv1445844,nssv1445841,nssv1445843,nssv1445842,nssv1445848,nssv1445847 M 95 0 10 INTS1,MICALL2 esv1563389 7 1325666 1326616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4197515 S 2 0 1 "" HuRef esv995555 7 1325990 1334163 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564822 S 3 0 1 "" HuRef dgv7094n71 7 1355923 1473537 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887187,nsv887190 M 6533 0 2 MICALL2 MS11237,MS13770 dgv7095n71 7 1356120 1594158 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887188,nsv887202,nsv887201,nsv887203,nsv887200,nsv887193,nsv887196,nsv887197 M 6533 0 10 INTS1,KIAA1908,MAFK,MICALL2,PSMG3,TMEM184A IS34235,IS39258,IS40297,MS10204,MS10386,MS11306,MS11726,MS13095,SP54956,SP54988 dgv7096n71 7 1359903 1519899 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887194,nsv887189,nsv887199,nsv887191,nsv887195,nsv887192 M 6533 0 8 INTS1,MICALL2 IS32888,IS33455,IS33504,IS34304,IS37172,IS37985,IS39233,MS10698 nsv521100 7 1394979 1518946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697786 S 2026 0 1 INTS1,MICALL2 nsv464247 7 1394979 1560184 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540191 S 1557 0 1 INTS1,MAFK,MICALL2,TMEM184A 1780862127_A dgv7097n71 7 1414714 1529927 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887209,nsv887204,nsv887214,nsv887210 M 6533 0 5 INTS1,MICALL2 IS30197,IS32322,IS40799,MS11669,MS15835 esv25202 7 1424534 1425036 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17582 S 451 0 1 "" NA18511 dgv7098n71 7 1425457 1573373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887205,nsv887206,nsv887207,nsv887211,nsv887208,nsv887212 M 6533 0 11 INTS1,MAFK,MICALL2,TMEM184A IS31045,IS33630,IS35007,IS38403,IS38840,IS40396,IS41243,MS10311,MS11467,MS11579,MS19630 esv1004645 7 1426433 1427019 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566970 S 3 0 1 "" HuRef nsv823970 7 1434971 1568253 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432935 S 31 1 0 INTS1,MAFK,MICALL2,TMEM184A NA18972 nsv887213 7 1440940 1459893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509324 S 6533 0 1 MICALL2 SP54782 nsv8029 7 1458643 1498797 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17143,nssv15606,nssv18000 M 31 1 2 Samples from several populations that are part of the HapMap project. INTS1,MICALL2 NA10863,NA18504,NA19221 nsv887215 7 1467240 1524493 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580243,nssv1575577,nssv1586477,nssv1599198,nssv1588843 M 6533 2 3 INTS1 IS33776,IS35245,IS37825,IS38262,IS41433 dgv7099n71 7 1467240 1540929 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887216,nsv887217 M 6533 0 2 INTS1,MAFK IS37874,IS38463 nsv887218 7 1467240 1560184 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573148,nssv1538556,nssv1573417,nssv1588201,nssv1568385 M 6533 1 4 INTS1,MAFK,TMEM184A IS31270,IS33243,IS33361,IS38176,MS13770 nsv887219 7 1467240 1573373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591326 S 6533 0 1 INTS1,MAFK,TMEM184A IS38688 nsv823971 7 1469908 1470851 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437492 S 31 1 0 "" NA18949 nsv823972 7 1470209 1470901 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435157 S 31 0 1 "" NA18942 dgv7100n71 7 1484497 1560184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887222,nsv887220 M 6533 0 2 INTS1,MAFK,TMEM184A SP54043,SP55021 nsv887221 7 1488401 1573373 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576560 S 6533 1 0 INTS1,MAFK,TMEM184A IS34124 esv1010068 7 1495455 1495455 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577363 S 3 1 0 INTS1 HuRef nsv366643 7 1495474 1495474 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385221 M 24 INTS1 esv1005556 7 1495506 1495506 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573993 S 3 1 0 INTS1 HuRef esv1688140 7 1495507 1495507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613681 S 2 1 0 INTS1 HuRef nsv830879 7 1499748 1656473 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445856,nssv1445853,nssv1445868,nssv1445861,nssv1445855,nssv1445867,nssv1445854,nssv1445860,nssv1445857,nssv1445859,nssv1445852,nssv1445863,nssv1445866,nssv1445865,nssv1445864,nssv1445869,nssv1445870,nssv1445858,nssv1445849 M 95 17 2 INTS1,KIAA1908,MAFK,PSMG3,TFAMP1,TMEM184A nsv830880 7 1499748 1656473 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445871,nssv1445874,nssv1445872 M 95 0 3 INTS1,KIAA1908,MAFK,PSMG3,TFAMP1,TMEM184A nsv887223 7 1503243 1540929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516347 S 6533 0 1 INTS1,MAFK SP56795 nsv887224 7 1508650 1775911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592189 S 6533 0 1 ELFN1,INTS1,KIAA1908,MAFK,PSMG3,TFAMP1,TMEM184A IS39233 dgv7101n71 7 1514751 1573373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887228,nsv887225,nsv887226,nsv887227 M 6533 0 12 MAFK,TMEM184A IS30837,IS36876,MS14359,MS19161,MS19414,MS20195,MS20359,MS20813,MS20850,MS21124,MS21189,SP55992 nsv823973 7 1527189 1529223 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424276 S 31 1 0 "" NA18582 esv26590 7 1527216 1529358 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14435 S 451 5 0 "" NA06985,NA11995,NA12749,NA18858,NA18907 dgv7102n71 7 1530258 1560184 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887230,nsv887229 M 6533 0 3 MAFK,TMEM184A SP54042,SP54750,SP55056 esv2110065 7 1532178 1532614 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764891 S 1 0 1 "" NA18507 esv1743827 7 1532390 1532476 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995675 S 2 0 1 "" HuRef nsv5615 7 1534719 1579370 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8334 S 9 0 1 KIAA1908,MAFK,PSMG3,TMEM184A NA12156 nsv887231 7 1540929 1554691 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519330,nssv1507978 M 6533 0 2 MAFK,TMEM184A SP54657,SP81010 nsv887232 7 1547447 1560184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499842,nssv1508401 M 6533 0 2 MAFK,TMEM184A SP50159,SP54672 nsv887233 7 1547447 1723762 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599392 S 6533 0 1 ELFN1,KIAA1908,MAFK,PSMG3,TFAMP1,TMEM184A IS41634 nsv823974 7 1548324 1549078 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435158 S 31 0 1 MAFK,TMEM184A NA18942 nsv482100 7 1548397 1562592 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558461 S 1 1 0 MAFK,TMEM184A KB1 nsv823975 7 1557407 1559799 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435159 S 31 0 1 TMEM184A NA18942 nsv823977 7 1557701 1559799 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436699 S 31 1 0 TMEM184A NA18542 esv1070717 7 1584073 1584601 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365919 S 2 0 1 KIAA1908 HuRef dgv7103n71 7 1587118 1759214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887235,nsv887239,nsv887237,nsv887234 M 6533 0 5 ELFN1,KIAA1908,TFAMP1 IS33684,IS34304,IS41410,MS11726,MS18276 dgv7104n71 7 1595714 1716791 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887242,nsv887236,nsv887238 M 6533 0 5 ELFN1,KIAA1908,TFAMP1 IS32888,IS38176,IS40230,MS11579,MS12262 esv1574546 7 1600956 1601008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134776 S 2 0 1 "" HuRef dgv7105n71 7 1608435 1808933 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887243,nsv887240 M 6533 0 2 ELFN1,TFAMP1 MS11306,MS13095 nsv887241 7 1608435 2183075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543489 S 6533 0 1 ELFN1,MAD1L1,MIR4655,TFAMP1 MS16153 nsv464248 7 1618426 1808933 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540192 S 1557 1 0 ELFN1,TFAMP1 1780854436_A esv1752269 7 1624749 1625373 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930598 S 2 0 1 "" HuRef esv3765 7 1625134 1625564 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26206 S 1 0 1 Single Asian sample YH "" YH dgv1086n67 7 1630949 1632281 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823978,nsv823979 M 31 0 2 "" NA18526,NA18582 nsv8030 7 1641367 1644820 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14825 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv830881 7 1644493 1839666 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445876,nssv1445875 M 95 0 2 ELFN1,MAD1L1 esv26844 7 1670333 1677017 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13351 S 451 0 1 "" NA07045 nsv887244 7 1699628 1775911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530565 S 6533 0 1 ELFN1 MS10311 nsv520976 7 1717323 1723762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697718 S 2026 0 1 ELFN1 dgv7106n71 7 1759330 1825144 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887247,nsv887245 M 6533 2 0 MAD1L1 IS33544,IS40223 nsv887246 7 1763088 1808933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534705,nssv1534426 M 6533 0 2 "" MS11579,MS11726 esv2519830 7 1764182 1764966 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368619 S 1 1 0 "" NA18507 nsv512906 7 1764344 1765148 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625552 S 1 1 0 "" 1 esv1204144 7 1764772 1764772 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196212 S 2 1 0 "" HuRef esv999350 7 1769910 1769995 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584624 S 3 0 1 "" HuRef esv24392 7 1778842 1783681 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17448 S 451 0 2 "" NA18511,NA19190 nsv515897 7 1779724 1804162 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663685,nssv692767,nssv665401,nssv656929,nssv673356,nssv665186,nssv694512 M 2026 7 0 "" nsv518875 7 1785705 1820789 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696333 S 2026 0 1 "" nsv830883 7 1803168 1975612 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445881,nssv1445880,nssv1445882,nssv1445879,nssv1445877,nssv1445878 M 95 0 6 MAD1L1,MIR4655 dgv7107n71 7 1808933 2034996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887252,nsv887253,nsv887248 M 6533 0 3 MAD1L1,MIR4655 MS10123,MS11237,MS16315 dgv7108n71 7 1808933 2183075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887255,nsv887249 M 6533 0 2 MAD1L1,MIR4655 IS34304,MS18276 nsv5616 7 1817359 1859402 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3499 S 9 0 1 MAD1L1,MIR4655 NA12878 esv29771 7 1822496 1830007 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14606 S 451 0 1 MAD1L1 NA12878 nsv471193 7 1833442 1951565 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544921,nssv544909,nssv544898 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAD1L1,MIR4655 HGDP00298,HGDP00543,HGDP00697 nsv887250 7 1833457 1881205 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530566 S 6533 0 1 MAD1L1,MIR4655 MS10311 nsv509186 7 1837076 1883144 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620877 S 4 1 0 MAD1L1,MIR4655 NA15510 dgv7109n71 7 1844979 1887352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887251,nsv887256 M 6533 0 2 MAD1L1,MIR4655 IS33504,MS10698 dgv7110n71 7 1844979 2297022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887254,nsv887259,nsv887258 M 6533 0 3 FTSJ2,MAD1L1,MIR4655,NUDT1,SNX8 IS37646,MS10311,MS13770 esv1790768 7 1851587 1851587 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606202 S 2 1 0 MAD1L1 HuRef esv1651495 7 1851615 1851743 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848476 S 2 0 1 MAD1L1 HuRef esv1002584 7 1851623 1851750 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570722 S 3 0 1 MAD1L1 HuRef nsv887257 7 1853463 1909315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572638 S 6533 0 1 MAD1L1 IS33162 esv1621443 7 1865214 1865281 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136658 S 2 0 1 MAD1L1 HuRef nsv365724 7 1866216 1866395 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384302 M 24 MAD1L1 esv1008479 7 1867568 1867815 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579549 S 3 0 1 MAD1L1 HuRef esv1051273 7 1867837 1868085 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695473 S 2 0 1 MAD1L1 HuRef esv1699347 7 1877153 1877764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238346 S 2 0 1 MAD1L1 HuRef esv1002751 7 1882375 1885068 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564144 S 3 1 0 MAD1L1 HuRef esv1004176 7 1882940 1883487 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565428 S 3 1 0 MAD1L1 HuRef esv2083782 7 1888956 1889372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4528512 S 1 0 1 MAD1L1 NA18507 nsv366131 7 1889247 1889336 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384709 M 24 MAD1L1 esv4844 7 1893731 1894533 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27285 S 1 0 1 Single Asian sample YH MAD1L1 YH nsv511941 7 1908795 1912283 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624480 S 1 0 1 MAD1L1 1 esv22857 7 1908860 1912266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16718 S 451 0 5 MAD1L1 NA15510,NA18502,NA18511,NA18858,NA18916 esv2312132 7 1909102 1910091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681620 S 1 0 1 MAD1L1 NA18507 dgv7111n71 7 1914484 2041525 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887260,nsv887262,nsv887261 M 6533 0 3 MAD1L1 IS39233,MS10698,MS10769 esv1021970 7 1936013 1936095 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312936 S 2 0 1 MAD1L1 HuRef esv1064342 7 1936150 1936587 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264488 S 2 0 1 MAD1L1 HuRef esv1309588 7 1936697 1936697 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594785 S 2 1 0 MAD1L1 HuRef esv2353291 7 1937115 1937546 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808335 S 1 0 1 MAD1L1 NA18507 nsv5617 7 1938371 1976233 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8335 S 9 0 1 MAD1L1 NA12156 esv28954 7 1943753 1944629 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16021 S 451 5 0 MAD1L1 NA15510,NA18907,NA19099,NA19114,NA19225 esv1734258 7 1944149 1944365 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994404 S 2 0 1 MAD1L1 HuRef esv2568241 7 1946634 1947461 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365560 S 1 1 0 MAD1L1 NA18507 esv1280895 7 1947161 1947161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978167 S 2 1 0 MAD1L1 HuRef nsv830884 7 1953285 2078142 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445883,nssv1445885 M 95 0 2 MAD1L1 nsv511366 7 1985396 2006120 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625906 S 1 0 1 MAD1L1 1 nsv887263 7 1985396 2137132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533755 S 6533 0 1 MAD1L1 MS11306 esv26649 7 1996002 1998957 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15781,esv15101 M 451 14 2 MAD1L1 NA07037,NA12004,NA12006,NA12239,NA12489,NA12828,NA12878,NA18505,NA18511,NA18523,NA18861,NA18907,NA18909,NA19108,NA19147,NA19190 esv2654648 7 1996535 1998602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286855 S 1 0 1 MAD1L1 NA18507 nsv511942 7 1996853 1998432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624481 S 1 0 1 MAD1L1 1 esv3905 7 1996856 1998464 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26346 S 1 0 1 Single Asian sample YH MAD1L1 YH esv999994 7 1996937 1998387 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586597 S 3 1 0 MAD1L1 HuRef esv1086937 7 1997497 1998337 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087823 S 2 0 1 MAD1L1 HuRef esv1260882 7 2002474 2002474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989727 S 2 1 0 MAD1L1 HuRef nsv366600 7 2002524 2002524 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385178 M 24 MAD1L1 esv2304578 7 2002827 2003248 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700221 S 1 0 1 MAD1L1 NA18507 esv3528 7 2002908 2003139 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25969 S 1 0 1 Single Asian sample YH MAD1L1 YH nsv366761 7 2002937 2003026 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385339 M 24 MAD1L1 dgv796n27 7 2006120 2081929 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464251,nsv464249 M 1557 0 2 MAD1L1 HGDP00433,HGDP00787 esv1660511 7 2009217 2009217 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3773684 S 2 1 0 MAD1L1 HuRef dgv7112n71 7 2034996 2183075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887267,nsv887264 M 6533 0 2 MAD1L1 IS35007,MS17208 nsv830885 7 2038803 2241382 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445886 S 95 0 1 FTSJ2,MAD1L1 esv2458937 7 2041024 2042792 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310743 S 1 0 1 MAD1L1 NA18507 esv24890 7 2041377 2042517 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12239 S 451 0 12 MAD1L1 NA12878,NA18502,NA18505,NA18517,NA18858,NA18861,NA18909,NA18916,NA19114,NA19225,NA19240,NA19257 esv1656328 7 2041912 2042517 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684543 S 2 0 1 MAD1L1 HuRef nsv365970 7 2042377 2042541 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384548 M 24 MAD1L1 nsv471204 7 2043621 2199983 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544932 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAD1L1 HGDP00626 dgv7113n71 7 2050308 2129763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887268,nsv887266,nsv887265 M 6533 0 3 MAD1L1 IS33504,IS39233,MS16315 nsv464252 7 2078106 2199983 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540196 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAD1L1 HGDP00626 nsv887269 7 2092468 2172435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599110 S 6533 0 1 MAD1L1 IS41410 nsv464253 7 2106516 2154775 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540197 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAD1L1 HGDP00479 dgv7114n71 7 2107631 2191193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887270,nsv887271 M 6533 0 2 MAD1L1 IS33455,IS38176 nsv887272 7 2124916 2163077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580844 S 6533 0 1 MAD1L1 IS35484 nsv887273 7 2124916 2229145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589080 S 6533 0 1 MAD1L1 IS38293 nsv830886 7 2151519 2344064 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445887 S 95 0 1 FTSJ2,MAD1L1,NUDT1,SNX8 nsv887274 7 2163077 2327218 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509325 S 6533 0 1 FTSJ2,MAD1L1,NUDT1,SNX8 SP54782 nsv464254 7 2172435 2219512 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540198 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAD1L1 HGDP00470 esv1587480 7 2175973 2176125 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097000 S 2 0 1 MAD1L1 HuRef esv2164289 7 2177455 2177910 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584044 S 1 0 1 MAD1L1 NA18507 dgv7115n71 7 2197528 2239462 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887275,nsv887276 M 6533 0 2 MAD1L1 SP51192,SP52255 nsv887277 7 2199983 2297022 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546626 S 6533 0 1 FTSJ2,MAD1L1,NUDT1,SNX8 MS17208 esv995598 7 2207353 2207417 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576421 S 3 0 1 MAD1L1 HuRef nsv887278 7 2214256 2264753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545731 S 6533 0 1 FTSJ2,MAD1L1,NUDT1,SNX8 MS16926 esv2218091 7 2216438 2216876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999656 S 1 0 1 MAD1L1 NA18507 nsv365745 7 2216567 2216567 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384323 M 24 MAD1L1 nsv887279 7 2229145 2290907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576902 S 6533 0 1 FTSJ2,MAD1L1,NUDT1,SNX8 IS34304 esv2332356 7 2231203 2231635 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879174 S 1 0 1 MAD1L1 NA18507 esv1005388 7 2231401 2231460 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582758 S 3 0 1 MAD1L1 HuRef nsv887280 7 2257211 2360473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583057 S 6533 0 1 NUDT1,SNX8 IS36244 esv1000840 7 2279456 2289012 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564414 S 3 0 1 SNX8 HuRef nsv823980 7 2284718 2286538 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436700 S 31 1 0 SNX8 NA18542 esv2392414 7 2330889 2331333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4679600 S 1 0 1 "" NA18507 dgv7116n71 7 2348884 2671792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887281,nsv887286 M 6533 0 2 BRAT1,CHST12,EIF3B,IQCE,LFNG,MIR4648,TTYH3 IS33684,MS17208 esv2424013 7 2383336 2385032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265584 S 1 0 1 EIF3B NA18507 esv26940 7 2383615 2384925 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16893,esv10479 M 451 6 0 EIF3B NA06985,NA07037,NA11931,NA12239,NA12287,NA12489 dgv227n6 7 2383627 2384199 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv366183,nsv366658 M 24 EIF3B esv1406872 7 2383906 2384412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265574 S 2 0 1 EIF3B HuRef nsv366196 7 2383971 2384412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384774 M 24 EIF3B esv2140457 7 2384400 2384865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639640 S 1 0 1 EIF3B NA18507 nsv887282 7 2424235 2508822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576692 S 6533 0 1 CHST12 IS34235 dgv7117n71 7 2424235 2571859 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887287,nsv887283,nsv887284,nsv887285 M 6533 0 7 BRAT1,CHST12,IQCE,LFNG,MIR4648 IS33455,IS39258,MS10311,MS11237,MS11306,MS16153,SP54956 nsv471216 7 2447255 2535296 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544943 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LFNG,MIR4648 HGDP00556 dgv7118n71 7 2449661 2571859 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887290,nsv887291,nsv887292,nsv887288,nsv887289 M 6533 0 5 BRAT1,IQCE,LFNG,MIR4648 IS32737,IS33162,IS39417,MS10769,MS18276 dgv7119n71 7 2479968 2626477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887293,nsv887295,nsv887294 M 6533 0 3 BRAT1,IQCE,LFNG,MIR4648 IS32322,IS33504,IS35484 esv994622 7 2489396 2494371 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563961 S 3 0 1 "" HuRef esv2159380 7 2499975 2500402 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506502 S 1 0 1 "" NA18507 esv4707 7 2500075 2500300 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27148 S 1 0 1 Single Asian sample YH "" YH esv998862 7 2500136 2500186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566147 S 3 0 1 "" HuRef nsv366546 7 2500182 2500266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385124 M 24 "" nsv830887 7 2513409 2627556 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445888 S 95 0 1 BRAT1,IQCE,LFNG,MIR4648 nsv823981 7 2513488 2549878 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432936 S 31 1 0 BRAT1,LFNG,MIR4648 NA18972 dgv7120n71 7 2515637 2549110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887299,nsv887296 M 6533 0 2 BRAT1,LFNG,MIR4648 SP54725,SP54988 nsv887297 7 2520563 2571004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505964 S 6533 0 1 BRAT1,IQCE,LFNG,MIR4648 SP54043 esv5169 7 2520968 2521322 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27610 S 1 1 0 Single Asian sample YH LFNG YH esv2575091 7 2521105 2522076 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233202 S 1 1 0 LFNG NA18507 nsv887298 7 2522683 2606667 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593139 S 6533 0 1 BRAT1,IQCE,LFNG,MIR4648 IS39363 esv1553581 7 2566858 2567404 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729467 S 2 0 1 IQCE HuRef nsv887300 7 2577960 2674348 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530569 S 6533 0 1 IQCE,TTYH3 MS10311 esv2349098 7 2583323 2583691 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939706 S 1 0 1 IQCE NA18507 nsv471227 7 2595546 2735390 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv544987,nssv544954,nssv544976,nssv544998,nssv544965 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AMZ1,GNA12,IQCE,TTYH3 HGDP00302,HGDP00543,HGDP00661,HGDP00789,HGDP01412 esv994621 7 2596300 2596300 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575177 S 3 1 0 IQCE HuRef esv1234995 7 2596438 2596438 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768670 S 2 1 0 IQCE HuRef esv2357458 7 2597974 2598303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519068 S 1 0 1 IQCE NA18507 esv1223273 7 2598183 2598238 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792936 S 2 0 1 IQCE HuRef nsv887301 7 2599003 2626477 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509877 S 6533 0 1 IQCE SP54956 dgv401n21 7 2606667 2720193 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517403,nsv518027 M 2026 0 5 AMZ1,IQCE,TTYH3 dgv7121n71 7 2606667 2729628 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887309,nsv887302 M 6533 0 3 AMZ1,IQCE,TTYH3 IS33504,IS37646,MS18276 nsv823982 7 2607573 2608054 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436701 S 31 1 0 IQCE NA18542 nsv887303 7 2616230 2681837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546628 S 6533 0 1 IQCE,TTYH3 MS17208 dgv7122n71 7 2620318 2701239 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887306,nsv887304,nsv887308,nsv887307,nsv887311,nsv887310 M 6533 0 9 AMZ1,IQCE,TTYH3 IS30369,IS37172,IS39233,IS39417,IS40396,MS13770,MS16153,MS16315,SP54988 nsv471238 7 2629344 2675740 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545009,nssv545020 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TTYH3 HGDP00922,HGDP01090 nsv887305 7 2629618 2668352 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509878 S 6533 0 1 TTYH3 SP54956 nsv5618 7 2633116 2663758 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6112 S 9 1 0 TTYH3 NA12156 nsv464257 7 2636113 2711650 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540199 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AMZ1,TTYH3 HGDP00852 nsv823983 7 2636935 2638863 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426749 S 31 1 0 TTYH3 AK6 nsv464258 7 2671792 2711650 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540200 S 1557 0 1 AMZ1 NINDS_111 nsv887312 7 2674348 2729628 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539860 S 6533 0 1 AMZ1 MS14526 esv1366347 7 2682078 2682241 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930847 S 2 0 1 "" HuRef esv24893 7 2723921 2726509 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10922 S 451 2 0 "" NA11894,NA19225 dgv7123n71 7 2841946 2910713 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887313,nsv887314 M 6533 0 2 GNA12 IS32322,IS33504 esv1046214 7 2856508 2856871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926478 S 2 0 1 "" HuRef nsv887315 7 2862153 2901950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538613 S 6533 0 1 "" MS13770 esv1433344 7 2865576 2865725 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280264 S 2 0 1 "" HuRef nsv526132 7 2871454 2934887 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702386 S 2026 0 1 CARD11 nsv887316 7 2871454 2950046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530570 S 6533 0 1 CARD11 MS10311 nsv887317 7 2878498 2910713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543492 S 6533 0 1 "" MS16153 nsv464259 7 2886593 2903976 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540201 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00407 esv2233828 7 2915596 2915970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660967 S 1 0 1 CARD11 NA18507 nsv528122 7 2921623 2943293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704666 S 2026 0 1 CARD11 esv21606 7 2931873 2932413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19586 S 451 0 1 CARD11 NA07037 nsv464260 7 2932664 3282098 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540202 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CARD11 HGDP01333 nsv366076 7 2978622 2978622 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384654 M 24 CARD11 esv268230 7 3057207 3057541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558031,essv2565643,essv2571816,essv2546232,essv2526011,essv2542460,essv2543842,essv2568384,essv2545509,essv2523325,essv2548576,essv2521525,essv2550623,essv2535024,essv2553989,essv2552208,essv2520379,essv2547128,essv2558488,essv2577801,essv2553819,essv2559729,essv2557013,essv2552676,essv2532174,essv2569319,essv2536962,essv2539062,essv2561203,essv2522299,essv2567572,essv2570112,essv2551172,essv2522431,essv2543345,essv2526629,essv2560463,essv2571511,essv2551203,essv2536281,essv2549076,essv2532936,essv2547933,essv2524797,essv2563339 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11840,NA11881,NA11918,NA11919,NA11992,NA11995,NA12003,NA12004,NA12045,NA12144,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12776,NA18501,NA18502,NA18505,NA18508,NA18517,NA18519,NA18562,NA18571,NA18582,NA18593,NA18858,NA18960,NA18965,NA19114,NA19190,NA19238,NA19257 esv273786 7 3057208 3057450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580755 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv1409380 7 3057241 3057241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282213 S 2 1 0 "" HuRef nsv5619 7 3057698 3091112 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8337 S 9 1 0 "" NA12156 dgv7124n71 7 3066379 3101119 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887318,nsv887319 M 6533 7 0 "" MS10065,MS11468,MS13758,MS15922,MS17849,MS19487,MS25484 nsv887320 7 3076972 3101119 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542814 S 6533 1 0 "" MS15907 nsv887321 7 3084327 4137256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541990 S 6533 1 0 SDK1 MS15589 nsv525825 7 3084824 3086349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702014 S 2026 0 1 "" nsv464262 7 3101119 3122339 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540204 S 1557 0 1 "" 1780846320_A esv2588589 7 3101519 3105705 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220283 S 1 0 1 "" NA18507 esv2074431 7 3101640 3104793 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945789 S 1 0 1 "" NA18507 esv2543840 7 3101660 3104327 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335680 S 1 0 1 "" NA18507 esv2422110 7 3102296 3104203 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5078561,essv5041369,essv5156554,essv5027679,essv5030230,essv5053103,essv5151962,essv5035888,essv5055496,essv5147500,essv5043976,essv5098862,essv5014590,essv5029119,essv5036775,essv5046541,essv5061954,essv5127995,essv5068146,essv5078546,essv5128029,essv5048818,essv5069252,essv5035484,essv5121195,essv5148308,essv5019932,essv5103387,essv5041419,essv5048729,essv5033689,essv5080725,essv5042148,essv5123515,essv5044436,essv5103813,essv5138994,essv5028687,essv5116729,essv5069342,essv5077951,essv5133112,essv5014940,essv5050214,essv5104712,essv5019271,essv5057457,essv5090397,essv5088889,essv5054478,essv5085833,essv5054030,essv5011637,essv5115643,essv5106776,essv5135723,essv5040907,essv5042191,essv5158204,essv5033651,essv5062347,essv5010654,essv5135063,essv5113503,essv5028149,essv5057318,essv5074334,essv5114490,essv5127890,essv5142801,essv5098256,essv5097955,essv5089652,essv5025506,essv5004761,essv5021374,essv5048910,essv5103134,essv5101443,essv5123868,essv5144510,essv5040535,essv5139412,essv5134375,essv5032523,essv5014708,essv5042907,essv5146261,essv5126733,essv5093216,essv5148622,essv5015998,essv5019787,essv5106138,essv5074339,essv5060810,essv5011002,essv5078195,essv5131544,essv5100850,essv5120576,essv5037397,essv5060677,essv5057262,essv5112225,essv5133776,essv5085214,essv5147692,essv5048078 M 1184 0 109 "" NA18506,NA18507,NA18853,NA18854,NA18867,NA18869,NA18870,NA18872,NA18874,NA18875,NA18912,NA18933,NA19035,NA19094,NA19095,NA19113,NA19115,NA19121,NA19123,NA19138,NA19139,NA19150,NA19151,NA19152,NA19171,NA19172,NA19173,NA19179,NA19180,NA19185,NA19198,NA19201,NA19206,NA19207,NA19208,NA19214,NA19225,NA19311,NA19313,NA19314,NA19318,NA19319,NA19328,NA19379,NA19391,NA19398,NA19431,NA19435,NA19446,NA19451,NA19452,NA19462,NA19469,NA19703,NA19705,NA19719,NA19721,NA19818,NA19828,NA19901,NA19914,NA20126,NA20127,NA20128,NA20290,NA20291,NA20342,NA20343,NA20363,NA21302,NA21303,NA21317,NA21333,NA21336,NA21339,NA21357,NA21364,NA21384,NA21386,NA21388,NA21400,NA21408,NA21435,NA21436,NA21488,NA21490,NA21510,NA21520,NA21521,NA21528,NA21574,NA21575,NA21580,NA21587,NA21596,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21647,NA21648,NA21650,NA21686,NA21693,NA21722,NA21738,NA21739 nsv516098 7 3102296 3104203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680311,nssv666185,nssv686254,nssv689527,nssv668223,nssv691859,nssv673214,nssv674578,nssv691815,nssv674427,nssv689050,nssv671793,nssv681862,nssv673498,nssv657104,nssv687602,nssv686193 M 2026 0 17 "" esv26066 7 3102297 3104614 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15015 S 451 0 1 "" NA19225 nsv464263 7 3117703 3136020 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540205 S 1557 0 1 "" NINDS_22 nsv823984 7 3119129 3119690 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430646 S 31 0 1 "" AK16 esv2508976 7 3126217 3127354 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252829 S 1 1 0 "" NA18507 nsv464264 7 3160682 3316151 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540206 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDK1 HGDP01166 nsv518337 7 3162859 3206627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695766 S 2026 0 1 "" nsv525011 7 3162859 3231254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701048 S 2026 1 0 "" esv1491924 7 3166716 3166716 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675695 S 2 1 0 "" HuRef nsv518354 7 3187516 3252951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694228 S 2026 0 1 "" esv8698 7 3220325 3220745 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31139 S 1 0 1 "" SJK nsv522584 7 3231254 3285925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705971 S 2026 0 1 "" dgv7125n71 7 3231254 3299156 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887323,nsv887322 M 6533 0 7 "" IS35245,IS35549,IS37226,IS38122,IS38665,IS40680,MS12812 nsv464267 7 3238524 3286698 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540207 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056 nsv471249 7 3238524 3286698 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545032 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00056 esv2328301 7 3243446 3243880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582747 S 1 0 1 "" NA18507 dgv2046e1 7 3253151 3526755 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv566,essv10425,essv11836 M 271 0 0 SDK1 NA19221,NA19222 nsv887324 7 3274721 3366631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540077 S 6533 0 1 SDK1 MS14681 esv29028 7 3306077 3308157 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19885,esv16714 M 451 0 3 SDK1 NA07045,NA12239,NA18511 essv7993 7 3326017 3421775 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SDK1 NA19221 dgv7126n71 7 3340346 3384937 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887326,nsv887325 M 6533 0 9 SDK1 MS11675,MS13932,MS15429,MS21558,SP52202,SP55381,SP55423,SP55498,SP81172 nsv464268 7 3348315 3380393 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540208 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDK1 HGDP00778 nsv519027 7 3348315 3400801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696496 S 2026 0 1 SDK1 nsv437530 7 3350129 3411837 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467411 S 60 0 1 Samples from several populations that are part of the HapMap project. SDK1 NA19221 essv14000 7 3351363 3417664 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SDK1 NA19222 nsv8031 7 3358490 3436805 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14512,nssv18030 M 31 1 1 Samples from several populations that are part of the HapMap project. SDK1 NA18942,NA19221 nsv437980 7 3359052 3393540 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468893,nssv468894 M 269 0 2 Samples from several populations that are part of the HapMap project. SDK1 NA19221,NA19222 nsv887327 7 3359696 3438990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529089 S 6533 1 0 SDK1 SP81440 nsv464269 7 3366631 3439247 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540209 S 1557 0 1 SDK1 1780854462_A nsv524581 7 3374094 3375515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700538 S 2026 0 1 SDK1 nsv887328 7 3378251 3387382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581230 S 6533 0 1 SDK1 IS35545 nsv510063 7 3379392 3385392 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622131 S 4 0 1 SDK1 NA10860 nsv519151 7 3380264 3426524 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696628 S 2026 0 1 SDK1 dgv7127n71 7 3391404 3481963 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887330,nsv887329 M 6533 0 2 SDK1 MS24051,SP57408 nsv887331 7 3400801 3442242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563786,nssv1583202 M 6533 0 2 SDK1 IS30076,IS36320 nsv442025 7 3400802 3405749 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SDK1 dgv1087n67 7 3408776 3436370 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823986,nsv823985 M 31 2 0 SDK1 NA18566,NA18942 dgv2047e1 7 3410712 3426881 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1554,essv3670 M 271 0 0 SDK1 NA18943,NA19012 nsv818473 7 3411837 3431422 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417437 S 112 1 0 SDK1 NA18952 nsv528715 7 3417777 3565107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705365 S 2026 0 1 SDK1 nsv887332 7 3421775 3487526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526740 S 6533 0 1 SDK1 SP57742 esv2589929 7 3439624 3441047 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357640 S 1 0 1 SDK1 NA18507 nsv887333 7 3442242 3509014 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573515 S 6533 1 0 SDK1 IS33439 nsv464270 7 3457391 3547883 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540210 S 1557 0 1 SDK1 1780862303_A esv2320457 7 3486356 3486783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4500325 S 1 0 1 SDK1 NA18507 nsv366234 7 3486504 3486568 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384812 M 24 SDK1 nsv887334 7 3497801 3601631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583844 S 6533 0 1 SDK1 IS36681 nsv464271 7 3522658 3571866 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540211 S 1557 0 1 SDK1 NINDS_209 esv1008693 7 3529126 3529126 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568320 S 3 1 0 SDK1 HuRef esv1756780 7 3529127 3529127 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994922 S 2 1 0 SDK1 HuRef nsv830888 7 3543740 3742802 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445889 S 95 1 0 SDK1 essv18811 7 3568874 3580763 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SDK1 NA12248 dgv2048e1 7 3568874 3596875 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1350,essv25166,essv18580 M 271 0 0 SDK1 NA10851,NA11839 dgv2049e1 7 3576021 3580763 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21090,essv18678 M 271 0 0 SDK1 NA10854,NA12056 nsv517279 7 3576238 3584669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660967,nssv652733,nssv690840,nssv670896,nssv654194,nssv661619,nssv685467,nssv677972,nssv652750,nssv681108,nssv693618,nssv651921,nssv657089,nssv673457,nssv656557,nssv698462,nssv676881,nssv675481,nssv681050 M 2026 0 19 SDK1 nsv818474 7 3576238 3584669 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416245,nssv1416244 M 112 0 2 SDK1 NA10851,NA12056 nsv442026 7 3576369 3584887 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SDK1 nsv8032 7 3576736 3588900 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13811,nssv17173,nssv15636,nssv15007,nssv18060,nssv16782,nssv15075,nssv17543,nssv14897,nssv15025,nssv14260,nssv14855,nssv17894,nssv15453,nssv15298,nssv15961,nssv16148,nssv14966,nssv14724,nssv17217,nssv15969,nssv13999,nssv15454,nssv15466,nssv14542,nssv17211,nssv14990,nssv15318,nssv15659,nssv14672 M 31 30 0 Samples from several populations that are part of the HapMap project. SDK1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv821269 7 3576908 3585826 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420635 S 1 0 1 SDK1 NA10851 nsv819413 7 3576931 3588769 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418620 S 2 1 0 SDK1 AK1 esv26185 7 3577056 3585481 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10707 S 451 40 0 SDK1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv464273 7 3577441 3584669 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540213 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDK1 HGDP00323 esv22623 7 3621004 3622007 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20144 S 451 0 2 SDK1 NA12006,NA12749 nsv887335 7 3666878 3733345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556259,nssv1557363,nssv1537819,nssv1560118,nssv1540347 M 6533 0 5 SDK1 MS13379,MS14809,MS21868,MS22639,MS24330 nsv525399 7 3686079 3688959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701522 S 2026 0 1 SDK1 esv1562452 7 3688687 3688687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626455 S 2 1 0 SDK1 HuRef esv989356 7 3688702 3688702 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584286 S 3 1 0 SDK1 HuRef esv29410 7 3689798 3703673 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12720 S 451 1 0 SDK1 NA12006 esv1002214 7 3812440 3812499 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580312 S 3 0 1 SDK1 HuRef nsv521103 7 3827362 3835314 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691173,nssv682335,nssv705792 M 2026 3 0 SDK1 dgv7128n71 7 3837336 3901435 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887336,nsv887337 M 6533 0 2 SDK1 MS23579,SP54976 nsv5621 7 3849490 3860921 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv609 S 9 1 0 SDK1 NA19240 esv272192 7 3857742 3863816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581761,essv2583218 M 7 2 0 Samples from several populations that are part of the HapMap project. SDK1 NA12878,NA12892 nsv519403 7 3899448 3905581 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655980,nssv672165 M 2026 0 2 SDK1 nsv518377 7 3905581 3944868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695805 S 2026 0 1 SDK1 dgv797n27 7 3922042 4580133 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464274,nsv464275,nsv464278,nsv464276,nsv464277 M 1557 5 0 SDK1 HGDP01001,HGDP01003,HGDP01013,HGDP01014,HGDP01018 esv27140 7 3926358 3927028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9938 S 451 0 1 SDK1 NA19108 nsv509187 7 3967651 3999681 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620878 S 4 1 0 SDK1 NA15510 esv2430419 7 3968782 3970311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385098 S 1 0 1 SDK1 NA18507 esv2004915 7 3968928 3969370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915900 S 1 0 1 SDK1 NA18507 esv22966 7 3969047 3970022 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11478 S 451 0 1 SDK1 NA07037 nsv5622 7 3970939 4002262 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8338 S 9 1 0 SDK1 NA12156 esv1006873 7 3979616 3984015 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563770 S 3 1 0 SDK1 HuRef esv26943 7 3981795 3984099 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17446 S 451 5 0 SDK1 NA12006,NA12239,NA18517,NA19099,NA19147 nsv820619 7 3981795 3984099 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420637 S 1 0 1 SDK1 NA10851 esv2323495 7 3981885 3982767 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852642 S 1 0 1 SDK1 NA18507 nsv511943 7 3981890 3983773 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624482 S 1 0 1 SDK1 1 nsv499704 7 3982056 3983598 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585627 S 9 1 0 SDK1 esv1551786 7 3983438 3983438 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988382 S 2 1 0 SDK1 HuRef nsv527624 7 3994062 4390580 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704091 S 2026 1 0 SDK1 nsv523815 7 4021299 4055402 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699645 S 2026 1 0 SDK1 nsv887338 7 4021299 4072231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586650 S 6533 0 1 SDK1 IS37892 esv25458 7 4039859 4049085 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14962,esv20631,esv18100 M 451 0 12 SDK1 NA12239,NA18502,NA18505,NA18517,NA18861,NA18907,NA18909,NA19108,NA19129,NA19147,NA19225,NA19240 esv2567177 7 4047304 4049670 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195384 S 1 0 1 SDK1 NA18507 esv2303183 7 4047592 4049003 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797477 S 1 0 1 SDK1 NA18507 esv4375 7 4047729 4049070 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26816 S 1 0 1 Single Asian sample YH SDK1 YH esv1005213 7 4048070 4048805 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587114 S 3 0 1 SDK1 HuRef nsv823988 7 4048070 4048805 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429881,nssv1435161 M 31 0 2 SDK1 AK14,NA18942 esv28341 7 4072089 4072739 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16330 S 451 0 3 SDK1 NA18907,NA19129,NA19240 nsv518299 7 4083191 4253123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695730 S 2026 0 1 SDK1 esv1730974 7 4089891 4089891 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814465 S 2 1 0 SDK1 HuRef nsv515665 7 4123027 4137256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664294,nssv687916 M 2026 0 2 SDK1 nsv820996 7 4124672 4126852 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420638 S 1 0 1 SDK1 NA10851 esv22195 7 4124707 4126756 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12653,esv17432 M 451 35 0 SDK1 NA06985,NA07037,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv823989 7 4124707 4127415 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425048 S 31 0 1 SDK1 AK2 dgv1088n67 7 4125446 4126910 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv823990,nsv823991 M 31 5 0 SDK1 AK16,AK18,NA18547,NA18949,NA18951 nsv887339 7 4128319 4190178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549720 S 6533 0 1 SDK1 MS18276 dgv7129n71 7 4134517 4265151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887341,nsv887340,nsv887342 M 6533 0 3 SDK1 IS37646,MS16153,MS17208 esv2652301 7 4145651 4145838 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338342 S 1 0 1 SDK1 NA18507 esv1559042 7 4145684 4145772 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272866 S 2 0 1 SDK1 HuRef nsv887343 7 4162572 4230185 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530571 S 6533 0 1 SDK1 MS10311 esv2154358 7 4163292 4163781 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706357 S 1 0 1 SDK1 NA18507 nsv887344 7 4178222 4360004 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526069 S 6533 1 0 SDK1 SP56991 nsv518625 7 4181251 4190178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696074 S 2026 0 1 SDK1 nsv520034 7 4202449 4204327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697188 S 2026 0 1 SDK1 nsv887345 7 4206611 4239815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549721 S 6533 0 1 SDK1 MS18276 nsv365802 7 4211175 4211175 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384380 M 24 SDK1 nsv517001 7 4214023 4215207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679101,nssv674810,nssv656828,nssv667585,nssv653587,nssv653176,nssv677036,nssv676969,nssv693446,nssv685360,nssv677758 M 2026 0 11 SDK1 nsv366864 7 4223119 4223220 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385442 M 24 SDK1 dgv7130n71 7 4253123 4318943 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887346,nsv887347 M 6533 2 0 SDK1 IS38106,MS13351 dgv7131n71 7 4253123 4372433 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887348,nsv887349,nsv887352,nsv887353,nsv887354,nsv887351,nsv887350 M 6533 11 0 SDK1 IS30838,IS37238,IS37960,IS37999,IS38182,IS38438,IS40834,MS14437,MS18828,MS20830,MS25980 nsv471260 7 4260050 4350759 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545054,nssv545043 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDK1 HGDP00543,HGDP01219 nsv464279 7 4260050 4366269 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540219 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SDK1 HGDP00543 nsv517675 7 4260050 4388142 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679744,nssv673809,nssv669204,nssv670109,nssv671159,nssv659546,nssv690420,nssv671729,nssv705908,nssv672337,nssv684657,nssv690745,nssv668065,nssv687462,nssv693175,nssv698108,nssv692567,nssv652790,nssv667162,nssv691403,nssv660423,nssv655575,nssv662287,nssv705089,nssv691131 M 2026 5 20 SDK1 nsv5623 7 4261431 4270401 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8339 S 9 0 1 SDK1 NA12156 dgv1089n67 7 4262290 4266061 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv823993,nsv823992 M 31 0 2 SDK1 NA18947,NA18972 esv26074 7 4269631 4270911 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19112 S 451 0 1 SDK1 NA12156 esv1201708 7 4269881 4270108 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653111 S 2 0 1 SDK1 HuRef nsv887355 7 4284934 4367674 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556957 S 6533 1 0 "" MS22297 nsv887356 7 4288097 4325580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551616 S 6533 0 1 "" MS18948 esv2229851 7 4290223 4290621 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780214 S 1 0 1 "" NA18507 nsv522909 7 4291256 4450383 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698568 S 2026 1 0 "" nsv887357 7 4303003 4364485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525852 S 6533 0 1 "" SP56845 essv6454 7 4305939 4367654 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18637 esv933 7 4305939 4405763 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 "" nsv887358 7 4316475 4382925 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502685 S 6533 1 0 "" SP51338 dgv7132n71 7 4318943 4360004 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887362,nsv887359,nsv887364,nsv887360 M 6533 7 0 "" IS36098,MS18599,SP52308,SP55683,SP56072,SP57329,SP58480 nsv887361 7 4318943 4504292 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516000 S 6533 1 0 "" SP56350 nsv887363 7 4328752 4350550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502401 S 6533 1 0 "" SP51161 nsv464280 7 4334033 4350759 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540220 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00964 nsv464281 7 4334033 4445666 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540221 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00740 nsv464282 7 4334226 4497466 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540222 S 1557 1 0 "" 1780854023_A esv34380 7 4342225 4351385 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979836,essv6979835 M 771 1 0 "" NA18637 essv8709 7 4365337 4405763 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19200 nsv464285 7 4379839 4431724 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540224 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01301 nsv5624 7 4382394 4416156 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2751 S 9 1 0 "" NA18555 esv2422006 7 4382925 4385813 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5015820,essv5088813,essv5098133,essv5028231,essv5070537,essv5129200,essv5124465,essv5146753,essv5009769,essv5052126,essv5116106,essv5052444,essv5058676,essv5127381,essv5143768,essv5063687,essv5043401,essv5155372,essv5072811,essv5022943,essv5092082,essv5142238,essv5104115,essv5049472,essv5016979,essv5076540,essv5023934,essv5091958,essv5127703,essv5094312,essv5030234,essv5053187,essv5141012,essv5031553,essv5078598,essv5084243,essv5099784,essv5131402,essv5048621,essv5121650 M 1184 0 40 "" NA18486,NA18487,NA18874,NA18875,NA18933,NA19044,NA19116,NA19128,NA19129,NA19140,NA19141,NA19142,NA19160,NA19200,NA19224,NA19226,NA19308,NA19327,NA19397,NA19438,NA19448,NA19462,NA19467,NA19708,NA19711,NA19795,NA19900,NA20288,NA20300,NA20332,NA20333,NA20344,NA21356,NA21438,NA21439,NA21476,NA21477,NA21486,NA21487,NA21529 esv23350 7 4383117 4386807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14436 S 451 0 1 "" NA19129 nsv441797 7 4383474 4385353 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv34870 7 4383495 4385245 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980886,essv6980887 M 771 0 1 "" NA19140 nsv471271 7 4385245 4436371 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545065 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01301 nsv887365 7 4390580 4504292 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582691 S 6533 1 0 "" IS36098 nsv464286 7 4402327 4574700 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540225 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00678 nsv471282 7 4405598 4574700 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545076 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00678 nsv887366 7 4412399 4535765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551098 S 6533 0 1 "" MS18779 dgv7133n71 7 4435807 4632096 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887369,nsv887373,nsv887370,nsv887367,nsv887371,nsv887372 M 6533 10 0 "" MS11494,MS11657,MS12609,MS15813,MS18104,MS18201,MS19301,MS20919,MS22146,MS24239 nsv887368 7 4436371 4547024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545927 S 6533 1 0 "" MS17047 nsv887374 7 4436371 4658393 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534931 S 6533 1 0 "" MS11823 esv2752157 7 4444518 4611915 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984101,essv6984100,essv6987488 M 771 1 0 "" BEC_774 esv2562454 7 4445178 4445255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194693 S 1 0 1 "" NA18507 nsv524765 7 4445666 4449442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700756 S 2026 0 1 "" nsv464287 7 4461527 4612776 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540226 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01162 nsv522007 7 4469915 4556338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694118 S 2026 0 1 "" nsv887375 7 4558338 4612776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592637 S 6533 1 0 "" IS39243 dgv2050e1 7 4559141 4713177 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20100,esv464,essv14063 M 271 0 0 FOXK1 NA07048,NA18861 nsv464288 7 4574700 4635662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540227 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00127 nsv887376 7 4584676 4632096 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545928 S 6533 1 0 "" MS17047 nsv291 7 4584757 4607795 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv291 S 1 0 1 "" NA15510 nsv5625 7 4584757 4632489 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11141,nssv6113,nssv3500 M 9 0 3 "" NA12156,NA12878,NA15510 esv997299 7 4585929 4624625 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564341 S 3 0 1 "" HuRef nsv508442 7 4589790 4736154 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618803,nssv619986,nssv622567 M 4 0 3 FOXK1 NA10860,NA15510,NA18994 nsv499140 7 4594896 4604046 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586015 S 9 0 1 "" esv2026834 7 4609640 4610114 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954817 S 1 0 1 "" NA18507 nsv464289 7 4612776 4625850 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540228 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01029 esv1168349 7 4630485 4630485 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729373 S 2 1 0 "" HuRef esv1750915 7 4630505 4630505 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4161662 S 2 1 0 "" HuRef nsv887377 7 4697061 4828785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543494,nssv1546630 M 6533 0 2 FOXK1,KIAA0415,MIR4656,RADIL MS16153,MS17208 dgv7134n71 7 4697061 4896247 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887380,nsv887378 M 6533 0 2 FOXK1,KIAA0415,MIR4656,PAPOLB,RADIL MS10311,MS18276 esv2157596 7 4711993 4712372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4636555 S 1 0 1 FOXK1 NA18507 nsv887379 7 4716053 4795119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585862 S 6533 0 1 FOXK1,KIAA0415,MIR4656 IS37646 nsv471293 7 4731387 4851747 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545087 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOXK1,KIAA0415,MIR4656,RADIL HGDP00978 dgv7135n71 7 4735556 4847480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887382,nsv887381 M 6533 0 2 FOXK1,KIAA0415,MIR4656,RADIL IS35484,SP54988 nsv823994 7 4758911 4894854 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428355 S 31 1 0 FOXK1,KIAA0415,MIR4656,PAPOLB,RADIL AK10 nsv8033 7 4768813 5053123 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15991 S 31 0 1 Samples from several populations that are part of the HapMap project. FOXK1,KIAA0415,MIR4656,MMD2,PAPOLB,RADIL,RBAK,RBAK-LOC389458,RNF216L NA19240 esv2380266 7 4774068 4774780 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749326 S 1 0 1 FOXK1 NA18507 nsv366495 7 4774282 4774601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385073 M 24 FOXK1 nsv482101 7 4781790 4797923 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558462 S 1 1 0 KIAA0415,MIR4656 KB1 dgv7136n71 7 4783986 4819208 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887383,nsv887386,nsv887384 M 6533 0 4 KIAA0415,MIR4656,RADIL SP50159,SP54043,SP54684,SP55992 dgv7137n71 7 4787107 4827361 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887387,nsv887385 M 6533 0 2 KIAA0415,MIR4656,RADIL SP54672,SP54725 nsv528748 7 4787107 4977519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705409 S 2026 0 1 KIAA0415,MIR4656,MMD2,PAPOLB,RADIL nsv887388 7 4790497 4847480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511377 S 6533 0 1 KIAA0415,MIR4656,RADIL SP55021 nsv5626 7 4794194 4825814 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10532 S 9 1 0 KIAA0415,MIR4656,RADIL NA18956 esv28123 7 4808559 4809836 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15027 S 451 0 1 RADIL NA07045 nsv887389 7 4913403 4938469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503491 S 6533 0 1 MMD2 SP52064 nsv525289 7 4969899 5050267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701394 S 2026 0 1 RNF216L esv28497 7 5035418 5049474 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19815 S 451 2 0 "" NA19099,NA19147 nsv436904 7 5041731 6719438 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466333 S 2 1 0 Samples from several populations that are part of the HapMap project. ACTB,AIMP2,C7orf26,C7orf70,CCZ1,CYTH3,DAGLB,EIF2AK1,FBXL18,FSCN1,GRID2IP,KDELR2,LOC389458,MIR589,OCM,PMS2,RAC1,RBAK,RBAK-LOC389458,RNF216,RSPH10B,RSPH10B2,SLC29A4,TNRC18,USP42,WIPI2,ZDHHC4,ZNF12,ZNF815,ZNF853,ZNF890P NA18505 nsv524146 7 5099745 5100462 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700024 S 2026 1 0 "" nsv522076 7 5110631 5112845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694847 S 2026 0 1 "" nsv523630 7 5110631 5164854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699430 S 2026 0 1 ZNF890P nsv887390 7 5190933 5377822 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530573 S 6533 0 1 SLC29A4,TNRC18,WIPI2 MS10311 nsv887391 7 5190933 5538658 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571879 S 6533 0 1 ACTB,FBXL18,MIR589,SLC29A4,TNRC18,WIPI2 IS32841 nsv823995 7 5199147 5199820 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436702 S 31 1 0 WIPI2 NA18542 nsv5627 7 5205904 5240109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2752 S 9 1 0 WIPI2 NA18555 nsv830889 7 5214683 5393991 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445890 S 95 0 1 SLC29A4,TNRC18,WIPI2 esv2498578 7 5214693 5215936 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226989 S 1 0 1 WIPI2 NA18507 nsv8034 7 5224479 5384499 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18150 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC29A4,TNRC18,WIPI2 NA19221 nsv887392 7 5229720 5326206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549723 S 6533 0 1 SLC29A4,TNRC18,WIPI2 MS18276 nsv823996 7 5252029 5432514 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436703 S 31 1 0 SLC29A4,TNRC18 NA18542 dgv7138n71 7 5259258 5358228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887394,nsv887393 M 6533 0 3 SLC29A4,TNRC18 IS33504,MS10393,MS22611 dgv7139n71 7 5271823 5416557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887395,nsv887398,nsv887397 M 6533 0 3 SLC29A4,TNRC18 IS39233,MS17208,SP54956 nsv887396 7 5271823 5441935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585863 S 6533 0 1 SLC29A4,TNRC18 IS37646 esv991341 7 5301882 5301939 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576816 S 3 0 1 SLC29A4 HuRef nsv366287 7 5301883 5301939 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384865 M 24 SLC29A4 nsv887399 7 5333461 5393654 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576693 S 6533 0 1 TNRC18 IS34235 dgv7140n71 7 5359769 5416557 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887400,nsv887403 M 6533 0 3 TNRC18 IS30369,SP54988,SP55021 dgv7141n71 7 5359769 5518962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887406,nsv887405,nsv887401 M 6533 0 3 FBXL18,MIR589,TNRC18 IS39258,MS13770,MS18276 nsv887402 7 5361477 5461203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576903 S 6533 0 1 TNRC18 IS34304 dgv7142n71 7 5369132 5634171 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887404,nsv887408 M 6533 0 2 ACTB,FBXL18,FSCN1,MIR589,RNF216,TNRC18 IS33504,IS33684 esv26599 7 5394200 5395500 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14027 S 451 0 1 TNRC18 NA07045 nsv510064 7 5395013 5401013 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621301 S 4 0 1 TNRC18 NA15510 nsv887407 7 5399198 5571656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530574 S 6533 0 1 ACTB,FBXL18,MIR589,TNRC18 MS10311 nsv508443 7 5413809 5467648 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622568 S 4 0 1 TNRC18 NA18994 esv8871 7 5418818 5418895 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31312 S 1 1 0 TNRC18 SJK nsv526194 7 5419282 5558962 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702456 S 2026 1 0 ACTB,FBXL18,MIR589,TNRC18 nsv823997 7 5424442 5430487 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432938 S 31 1 0 TNRC18 NA18972 nsv830890 7 5431459 5671684 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445892,nssv1445891,nssv1445893,nssv1445894,nssv1445896 M 95 0 5 ACTB,FBXL18,FSCN1,MIR589,RNF216 nsv887409 7 5444448 5506484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567442 S 6533 0 1 FBXL18,MIR589 IS31082 nsv366056 7 5455378 5455575 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384634 M 24 "" esv1007668 7 5455407 5455600 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583916 S 3 0 1 "" HuRef esv1530408 7 5455450 5455612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714123 S 2 0 1 "" HuRef nsv517558 7 5473025 5538658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668497,nssv652355,nssv671533,nssv683177,nssv676882,nssv687770 M 2026 0 6 ACTB,FBXL18,MIR589 nsv887410 7 5475170 5518962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543495 S 6533 0 1 FBXL18,MIR589 MS16153 nsv887411 7 5483466 5534820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585864 S 6533 0 1 ACTB,FBXL18,MIR589 IS37646 nsv471304 7 5483466 5534892 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545098 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTB,FBXL18,MIR589 HGDP00313 nsv887412 7 5487994 5511953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510736 S 6533 0 1 FBXL18,MIR589 SP54988 nsv887413 7 5487994 5574410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509880 S 6533 0 1 ACTB,FBXL18,MIR589 SP54956 nsv823999 7 5505461 5507508 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428356 S 31 1 0 FBXL18 AK10 esv25511 7 5535634 5537199 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17889 S 451 0 1 ACTB NA07045 dgv7143n71 7 5551460 5661785 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887414,nsv887416,nsv887415 M 6533 0 4 FSCN1,RNF216 IS34235,IS41243,MS11726,MS13770 esv23991 7 5573881 5577898 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13701 S 451 0 2 "" NA19129,NA19190 nsv819922 7 5609404 5613992 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419644 S 2 1 0 FSCN1 AK1 nsv887417 7 5634171 5727386 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536856 S 6533 1 0 RNF216 MS12986 nsv887418 7 5641831 5739077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557982 S 6533 0 1 RNF216 MS23025 nsv887419 7 5670195 5786909 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554423 S 6533 1 0 RNF216 MS20797 nsv830891 7 5692827 5861986 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445897 S 95 1 0 RNF216,ZNF815 dgv798n27 7 5745322 5857747 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464293,nsv464294 M 1557 2 0 RNF216,ZNF815 HGDP01366,HGDP01375 nsv464296 7 5759271 5817168 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540232 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RNF216 HGDP00033 nsv471315 7 5759271 5857747 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545109 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RNF216,ZNF815 HGDP01366 nsv887420 7 5768346 5930071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567248 S 6533 1 0 CCZ1,OCM,RNF216,ZNF815 IS31054 dgv402n21 7 5774485 5894482 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521919,nsv521589 M 2026 0 2 OCM,RNF216,ZNF815 dgv7144n71 7 5793027 5875268 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887421,nsv887422 M 6533 2 0 ZNF815 MS12986,MS20797 nsv887423 7 5793027 5885806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520220 S 6533 0 1 ZNF815 SP50755 nsv512907 7 5796778 5798490 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625553 S 1 1 0 "" 1 esv2432746 7 5797731 5798311 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285157 S 1 1 0 "" NA18507 nsv830892 7 5808570 5962015 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445898 S 95 0 1 CCZ1,OCM,RSPH10B,RSPH10B2,ZNF815 esv2164560 7 5809243 5809803 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664338 S 1 0 1 "" NA18507 esv5242 7 5809325 5809705 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27683 S 1 0 1 Single Asian sample YH "" YH esv1001703 7 5809443 5809605 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570024 S 3 0 1 "" HuRef esv1502028 7 5809503 5809666 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829129 S 2 0 1 "" HuRef nsv366446 7 5815104 5816420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385024 M 24 "" dgv7145n71 7 5829905 5894482 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887424,nsv887425 M 6533 0 2 OCM,ZNF815 SP52390,SP55883 esv32641 7 5831347 5834314 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95838 S 51 0 1 ZNF815 21911 esv24437 7 5847069 5853950 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16327 S 451 0 2 ZNF815 NA07037,NA07045 nsv8035 7 5847822 5855042 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15484,nssv13841 M 31 0 2 Samples from several populations that are part of the HapMap project. ZNF815 NA10839,NA12872 esv33300 7 5848584 5853220 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99246,essv97619,essv100544 M 51 0 3 ZNF815 22275,22278,22298 nsv830894 7 5856184 6038741 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445899 S 95 0 1 AIMP2,CCZ1,EIF2AK1,OCM,PMS2,RSPH10B,RSPH10B2,ZNF815 esv274969 7 5903414 5931967 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585175 S 1250 0 1 CCZ1 esv2421482 7 5906565 5917460 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131686,essv5072750,essv5006454,essv5074311,essv5138561,essv5105592,essv5113288,essv5019671,essv5072145,essv5157786,essv5070912,essv5079971,essv5112412,essv5009004,essv5038247 M 1184 0 15 CCZ1 NA17982,NA18140,NA18537,NA18563,NA18577,NA18610,NA18614,NA18635,NA18943,NA18944,NA18959,NA18969,NA20345,NA21363,NA21448 nsv7392 7 5948840 6827030 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4963,nssv10533 M 9 0 0 AIMP2,C7orf26,C7orf28B,C7orf70,CYTH3,DAGLB,EIF2AK1,GRID2IP,KDELR2,PMS2,PMS2CL,RAC1,RSPH10B,RSPH10B2,USP42,ZDHHC4,ZNF12,ZNF853 NA18956,NA19129 nsv8037 7 5976602 5984756 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18180 S 31 1 0 Samples from several populations that are part of the HapMap project. PMS2,RSPH10B,RSPH10B2 NA19221 esv1914954 7 6003848 6711292 OTHER Inversion Feuk_et_al_2005 16254605 FISH,PCR Not Provided essv4491061 S 18 0 0 AIMP2,C7orf26,C7orf70,CYTH3,DAGLB,EIF2AK1,GRID2IP,KDELR2,PMS2,RAC1,USP42,ZDHHC4,ZNF12,ZNF853 esv988101 7 6039770 6040444 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567494 S 3 0 1 EIF2AK1 HuRef esv1385792 7 6039774 6040449 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816746 S 2 0 1 EIF2AK1 HuRef esv1348473 7 6071614 6071614 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606031 S 2 1 0 "" HuRef nsv5628 7 6071988 6113674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4964 S 9 0 1 USP42 NA19129 esv22984 7 6089789 6111243 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13824,esv12933 M 451 0 6 USP42 NA12749,NA18916,NA19108,NA19129,NA19190,NA19257 esv2421713 7 6091907 6104637 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027368,essv5148436,essv5075714,essv5073484,essv5042150,essv5136923,essv5137415,essv5135983,essv5131944,essv5121935,essv5086105,essv5152521,essv5078596,essv5028317,essv5114893,essv5137158,essv5037326,essv5025457,essv5021683,essv5079024,essv5086974,essv5025425,essv5104629,essv5041665,essv5027778,essv5088623,essv5144351,essv5073330,essv5154082,essv5098689,essv5073952,essv5149787,essv5124237,essv5038392,essv5097735,essv5153542,essv5088892,essv5114491,essv5051710,essv5062177,essv5008909,essv5152213,essv5027974,essv5014372,essv5013775,essv5098434,essv5061184,essv5115206,essv5099142,essv5135874,essv5098709,essv5160743,essv5131792,essv5061860,essv5128612,essv5130467,essv5070045,essv5020519,essv5061773,essv5061436,essv5093759,essv5031361,essv5156513,essv5123399,essv5148969,essv5093089,essv5058262,essv5053693,essv5042935,essv5023032,essv5137465,essv5038596,essv5068813,essv5152025,essv5124518,essv5104782,essv5098492,essv5006559 M 1184 0 78 "" NA18484,NA18486,NA18488,NA18499,NA18503,NA18504,NA18510,NA18515,NA18516,NA18520,NA18853,NA18859,NA18860,NA18867,NA18869,NA18916,NA18934,NA18935,NA19038,NA19107,NA19108,NA19109,NA19117,NA19118,NA19121,NA19127,NA19129,NA19140,NA19174,NA19178,NA19181,NA19185,NA19186,NA19190,NA19191,NA19192,NA19194,NA19197,NA19199,NA19204,NA19235,NA19237,NA19248,NA19249,NA19257,NA19258,NA19313,NA19327,NA19334,NA19371,NA19393,NA19428,NA19429,NA19438,NA19443,NA19455,NA19457,NA19703,NA19834,NA19836,NA19900,NA19902,NA19909,NA19914,NA19915,NA19919,NA20126,NA20276,NA20277,NA20344,NA20345,NA20357,NA20358,NA20364,NA21414,NA21434,NA21441,NA21529 nsv510065 7 6111018 6117018 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618251,nssv624022 M 4 0 2 USP42 CHM,NA18994 nsv522155 7 6139180 6179181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694928 S 2026 0 1 CYTH3,USP42 dgv403n21 7 6154309 6179181 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522217,nsv527386 M 2026 0 2 CYTH3,USP42 nsv818475 7 6154309 6179181 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417743 S 112 0 1 CYTH3,USP42 NA19003 dgv7146n71 7 6156652 6179921 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887427,nsv887426 M 6533 0 2 CYTH3,USP42 SP54956,SP54988 nsv5629 7 6184391 6229656 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4965 S 9 0 1 CYTH3 NA19129 esv259693 7 6204214 6204572 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400296,essv2396642,essv2395701,essv2394938,essv2396317,essv2397411,essv2394895,essv2395434,essv2398143,essv2397116,essv2394597,essv2397011,essv2398733 M 144 0 0 Samples from several populations that are part of the HapMap project. CYTH3 NA11881,NA18526,NA18532,NA18545,NA18558,NA18566,NA18942,NA18948,NA18949,NA18951,NA18965,NA18973,NA19005 esv8077 7 6204468 6204524 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30518 S 1 1 0 CYTH3 SJK esv2585141 7 6280020 6280952 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202842 S 1 1 0 "" NA18507 esv274582 7 6280552 6280637 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581088 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv269571 7 6357600 6357685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515141 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv887428 7 6416021 6430430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510738 S 6533 0 1 DAGLB SP54988 nsv824000 7 6458932 6465932 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438902 S 31 0 1 "" NA18973 nsv824001 7 6461304 6465932 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426807 S 31 0 1 "" NA18968 nsv830895 7 6481306 6688617 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445900 S 95 0 1 C7orf26,GRID2IP,KDELR2,ZDHHC4,ZNF853 dgv7147n71 7 6487201 6634552 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887429,nsv887430,nsv887433 M 6533 0 3 C7orf26,GRID2IP,KDELR2,ZDHHC4,ZNF853 IS30369,MS10311,MS18276 nsv508444 7 6500635 6667052 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622569,nssv622570 M 4 0 1 C7orf26,GRID2IP,ZDHHC4,ZNF853 NA18994 nsv515978 7 6502042 6665430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659442,nssv665570,nssv697664,nssv697665,nssv705793,nssv699517 M 2026 0 6 C7orf26,GRID2IP,ZDHHC4,ZNF853 dgv7148n71 7 6502042 6680510 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887431,nsv887434,nsv887432 M 6533 0 3 C7orf26,GRID2IP,ZDHHC4,ZNF853 IS39233,IS40297,MS17208 esv2102176 7 6565058 6565476 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750250 S 1 0 1 "" NA18507 dgv7149n71 7 6580129 6688186 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887436,nsv887435 M 6533 0 2 C7orf26,ZDHHC4,ZNF853 IS40502,SP54956 esv2123966 7 6583119 6583598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650689 S 1 0 1 ZDHHC4 NA18507 dgv1090n67 7 6584612 6687934 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824002,nsv824003 M 31 2 0 C7orf26,ZDHHC4,ZNF853 NA18542,NA18968 dgv7150n71 7 6611806 6676125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887438,nsv887437 M 6533 0 3 C7orf26,ZNF853 SP54892,SP54967,SP55019 esv2752174 7 6654258 7740366 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981522,essv6985594,essv6981520,essv6981521,essv6988413 M 771 1 0 C1GALT1,C7orf28B,COL28A1,LOC100131257,LOC729852,MIOS,PMS2CL,RPA3,RSPH10B,RSPH10B2,ZNF12 BEC_289 esv29317 7 6658426 6661228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16504 S 451 0 2 "" NA07045,NA19190 nsv887439 7 6702857 6758274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539533,nssv1530576 M 6533 0 2 PMS2CL,ZNF12 MS10311,MS14359 esv2560724 7 6708468 6708519 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219103 S 1 0 1 ZNF12 NA18507 esv4389 7 6708628 6709163 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26830 S 1 0 1 Single Asian sample YH ZNF12 YH esv7643 7 6708658 6709069 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30084 S 1 0 1 ZNF12 SJK dgv7151n71 7 6709622 6787033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887442,nsv887440 M 6533 0 2 PMS2CL,RSPH10B,RSPH10B2,ZNF12 IS32322,SP57347 nsv8038 7 6711242 6714636 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15348 S 31 1 0 Samples from several populations that are part of the HapMap project. ZNF12 NA18564 nsv887441 7 6711482 6885739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585454 S 6533 1 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2,ZNF12 IS37458 esv32852 7 6712509 6713375 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95066,essv92774,essv96317 M 51 0 3 ZNF12 21721,21944,22371 nsv8039 7 6714636 6731411 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15328,nssv17241,nssv17573 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA18972,NA19144 esv27472 7 6715697 6734960 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10861 S 451 2 0 "" NA19099,NA19147 dgv7152n71 7 6719811 6822035 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887443,nsv887445,nsv887448,nsv887447,nsv887444 M 6533 7 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2 IS30292,IS35142,MS16048,MS16064,MS16408,MS19184,MS25696 dgv7153n71 7 6724543 6837160 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887446,nsv887449 M 6533 4 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2 IS37918,IS38285,IS38436,MS20850 dgv2051e1 7 6731108 6943739 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12139,esv1003 M 271 0 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2 NA19173 dgv7154n71 7 6745795 6885739 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887453,nsv887454,nsv887452,nsv887450 M 6533 4 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2 IS35470,MS22251,MS23579,MS24503 nsv887451 7 6745795 6951596 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598487 S 6533 1 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2 IS41043 esv33385 7 6751282 6806862 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100821 S 51 1 0 C7orf28B,PMS2CL,RSPH10B,RSPH10B2 21656 nsv8040 7 6752333 6761591 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18210 S 31 1 0 Samples from several populations that are part of the HapMap project. PMS2CL,RSPH10B,RSPH10B2 NA19221 dgv7155n71 7 6787033 6953334 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887462,nsv887459,nsv887460,nsv887455,nsv887458,nsv887456 M 6533 6 0 C7orf28B,RSPH10B,RSPH10B2 IS35763,IS36563,IS38016,IS39194,IS39399,IS41524 dgv7156n71 7 6787033 7129967 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887461,nsv887457 M 6533 2 0 C7orf28B,LOC100131257,RSPH10B,RSPH10B2 IS33580,IS33689 essv25135 7 6800402 6930214 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C7orf28B,RSPH10B,RSPH10B2 NA10856 nsv441808 7 6820635 6830608 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C7orf28B nsv469900 7 6837159 7108090 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545120 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100131257 HGDP01298 nsv5630 7 6844227 6902656 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv610,nssv9707 M 9 0 2 "" NA18507,NA19240 esv2603666 7 6845582 6892638 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339898 S 1 0 1 "" NA18507 nsv436560 7 6866397 6891459 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466334 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv511944 7 6866768 6890407 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624483 S 1 0 1 "" 1 nsv887463 7 6894777 6956951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536845 S 6533 0 1 "" MS12986 nsv428160 7 6903474 7186078 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450917,nssv450918 M 62 1 1 LOC100131257 HGDP00462,NA19113 esv994215 7 6954003 6960499 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564513 S 3 0 1 "" HuRef nsv442027 7 6954353 6995310 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv887464 7 6985806 7107662 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585420,nssv1581916 M 6533 1 1 LOC100131257 IS35763,IS37450 nsv511945 7 6986147 6992419 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624484 S 1 0 1 "" 1 nsv887465 7 7003464 7064420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536846 S 6533 0 1 "" MS12986 nsv887466 7 7003464 7107662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587363,nssv1593306 M 6533 2 0 LOC100131257 IS38016,IS39399 dgv7157n71 7 7003464 7172274 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887467,nsv887469,nsv887468 M 6533 4 0 LOC100131257 IS36563,IS39194,IS41524,MS14105 nsv469911 7 7006700 7108090 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545131 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100131257 HGDP00462 nsv464298 7 7006701 7108090 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540233 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100131257 HGDP01298 nsv529034 7 7006701 7108090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705745 S 2026 0 1 LOC100131257 nsv464299 7 7006701 7117109 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540234 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100131257 HGDP00462 nsv464300 7 7006701 7335224 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540235 S 1557 1 0 C1GALT1,LOC100131257 1780862452_A esv25846 7 7011921 7020505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20451,esv14635 M 451 0 4 "" NA18502,NA18511,NA18907,NA19257 esv5864 7 7074192 7074896 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28305 S 1 0 1 "" SJK nsv516271 7 7143271 7144230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667236,nssv656107 M 2026 0 2 "" nsv508445 7 7157043 7227623 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618804 S 4 0 1 C1GALT1 NA10860 nsv519087 7 7163373 7167406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696561 S 2026 0 1 "" dgv2052e1 7 7176436 7460426 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv553,essv21209 M 271 0 0 C1GALT1,COL28A1 NA11830 nsv8041 7 7194629 7196987 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16812 S 31 0 1 Samples from several populations that are part of the HapMap project. C1GALT1 NA18502 nsv464301 7 7219300 7408694 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540236 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C1GALT1,COL28A1 HGDP00254 nsv469770 7 7227939 7420346 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649791 M 265 0 2 Samples from several populations that are part of the HapMap project. C1GALT1,COL28A1 essv19077 7 7246587 7310505 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C1GALT1 NA11830 nsv8042 7 7257663 7295366 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15037 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv523128 7 7258983 7284485 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698831 S 2026 0 1 "" nsv525648 7 7259417 7267448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701802 S 2026 0 1 "" dgv2053e1 7 7267634 7460426 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9978,essv16157 M 271 0 0 COL28A1 NA19099,NA19100 dgv7158n71 7 7276548 7647222 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887472,nsv887470 M 6533 2 0 COL28A1,LOC729852,MIOS,RPA3 MS14105,SP57817 dgv2054e1 7 7283740 7408300 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12100,essv14237 M 271 0 0 COL28A1 NA19099,NA19100 nsv437531 7 7289433 7408707 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467412 S 60 0 1 Samples from several populations that are part of the HapMap project. COL28A1 NA19100 esv29197 7 7293256 7392854 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15150 S 451 0 1 COL28A1 NA19099 nsv520903 7 7295300 7297106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677290,nssv684658,nssv681863,nssv689346 M 2026 0 4 "" nsv522393 7 7295300 7394060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695173 S 2026 0 1 COL28A1 nsv464302 7 7297147 7302819 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540237 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00821 nsv887471 7 7310242 7314723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593919 S 6533 0 1 "" IS39627 dgv221e55 7 7310505 7393969 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34328,esv34490 M 771 0 2 COL28A1 NA19099,NA19100 nsv437981 7 7317208 7321640 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468895,nssv468896 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19099,NA19100 nsv887473 7 7464201 7571438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565096,nssv1540515,nssv1534023 M 6533 0 3 COL28A1 IS30363,MS11396,MS14888 dgv7159n71 7 7486128 7647222 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887474,nsv887476,nsv887475 M 6533 4 0 COL28A1,LOC729852,MIOS,RPA3 SP52359,SP52399,SP55662,SP57062 nsv887477 7 7498344 7776647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503668 S 6533 1 0 COL28A1,LOC729852,MIOS,RPA3 SP52093 esv2589325 7 7508008 7509562 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333821 S 1 0 1 COL28A1 NA18507 esv2413938 7 7508651 7509337 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4924329 S 1 0 1 COL28A1 NA18507 nsv366841 7 7508853 7509152 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385419 M 24 COL28A1 nsv527573 7 7537484 7538740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704034 S 2026 0 1 COL28A1 nsv511946 7 7549984 7553345 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624485 S 1 0 1 "" 1 nsv8043 7 7555720 7829327 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17603 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC729852,MIOS,RPA3 NA18972 dgv7160n71 7 7637243 7883885 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887478,nsv887480,nsv887485 M 6533 3 0 LOC729852,RPA3 SP52359,SP54753,SP55662 dgv7161n71 7 7647656 7751572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887479,nsv887481,nsv887482 M 6533 0 3 LOC729852,RPA3 IS35181,MS10499,MS18799 nsv887483 7 7648964 7764742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504296 S 6533 1 0 LOC729852,RPA3 SP52399 nsv887484 7 7659008 7735888 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526192 S 6533 1 0 LOC729852,RPA3 SP57062 nsv887486 7 7679023 7751572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542296,nssv1558987,nssv1594195 M 6533 0 3 LOC729852,RPA3 IS39718,MS15749,MS23670 esv1736638 7 7684911 7684911 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923072 S 2 1 0 LOC729852,RPA3 HuRef esv1554962 7 7685875 7685875 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589403 S 2 1 0 LOC729852,RPA3 HuRef esv2752177 7 7695772 8144214 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986100,essv6982199,essv6982201,essv6982200 M 771 1 0 GLCCI1,ICA1,LOC729852,RPA3 BEC_401 nsv887487 7 7707439 7769086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600772 S 6533 0 1 LOC729852,RPA3 IS41924 esv272051 7 7725019 7725308 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512592,essv2493171,essv2496424,essv2496145,essv2508995,essv2496888 M 157 6 0 Samples from several populations that are part of the HapMap project. LOC729852 NA18489,NA18504,NA18510,NA18511,NA18522,NA19190 nsv887488 7 7736728 7761009 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581839 S 6533 0 1 LOC729852 IS35742 dgv7162n71 7 7736728 7879836 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887490,nsv887489 M 6533 2 0 LOC729852 SP52399,SP57062 nsv818476 7 7741209 7745849 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417875 S 112 1 0 LOC729852 NA18852 nsv523479 7 7788119 7876424 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699243 S 2026 1 0 LOC729852 nsv365823 7 7802425 7803847 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384401 M 24 LOC729852 nsv523540 7 7816072 7819889 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699317 S 2026 0 1 LOC729852 dgv128n17 7 7825773 7846747 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437533,nsv437532 M 60 0 2 LOC729852 NA18506,NA18857 nsv887491 7 7825861 7834334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582962,nssv1565475,nssv1598975 M 6533 0 3 LOC729852 IS30432,IS36219,IS41068 nsv518177 7 7828182 7835138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695597 S 2026 0 1 LOC729852 nsv464304 7 7880344 7937085 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540238 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC729852 HGDP01177 esv22903 7 7890690 7892697 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17022 S 451 0 1 "" NA18907 nsv523784 7 7891173 7891322 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699609 S 2026 0 1 "" nsv525502 7 7905121 7963115 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701634 S 2026 0 1 "" esv32534 7 7931844 7935031 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99972 S 51 0 1 "" 22086 esv32555 7 7953469 7954757 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99760 S 51 0 1 "" 22086 esv267604 7 7985514 7991560 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522894,essv2577423,essv2521787,essv2553605,essv2576300,essv2537341,essv2547052,essv2527104 M 157 8 0 Samples from several populations that are part of the HapMap project. GLCCI1 NA11931,NA12043,NA12144,NA12763,NA12814,NA12878,NA12892,NA18522 esv273994 7 7985518 7991600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581960,essv2582281 M 7 2 0 Samples from several populations that are part of the HapMap project. GLCCI1 NA12878,NA12891 esv271406 7 8015992 8016109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512612,essv2501155,essv2506178,essv2505247,essv2501074 M 157 5 0 Samples from several populations that are part of the HapMap project. GLCCI1 NA18489,NA18516,NA18523,NA18853,NA18856 nsv5633 7 8020151 8026396 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv611 S 9 1 0 GLCCI1 NA19240 nsv518779 7 8022189 8043884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696233 S 2026 0 1 GLCCI1 nsv519058 7 8061129 8082319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696529 S 2026 0 1 GLCCI1 esv1009766 7 8072637 8100811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563501 S 3 0 1 GLCCI1 HuRef nsv887492 7 8144214 8480452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562319 S 6533 1 0 ICA1,NXPH1 MS25509 nsv464305 7 8146180 8491232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540239 S 1557 1 0 ICA1,NXPH1 1780862599_A esv2563861 7 8158605 8159508 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221152 S 1 1 0 ICA1 NA18507 nsv819085 7 8158699 8158747 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418891 S 2 1 0 ICA1 AK1 nsv887493 7 8168657 8197116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542245 S 6533 1 0 ICA1 MS15727 nsv442028 7 8197116 8202432 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ICA1 esv23629 7 8197164 8203083 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12029 S 451 0 1 ICA1 NA11995 nsv528572 7 8200167 8200896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705191 S 2026 0 1 ICA1 nsv464308 7 8255230 8920383 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540241 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ICA1,NXPH1 HGDP01104 nsv5634 7 8263707 8288608 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4966 S 9 1 0 ICA1 NA19129 esv1464306 7 8286219 8286271 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065945 S 2 0 1 "" HuRef nsv464309 7 8303957 8355025 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540242 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00872 nsv887494 7 8303957 9413865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598327 S 6533 0 1 NXPH1 IS40847 nsv509188 7 8327375 8339292 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618063 S 4 1 0 "" CHM nsv887495 7 8334709 8529408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585287 S 6533 1 0 NXPH1 IS37404 esv1010855 7 8338203 8339062 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565136 S 3 1 0 "" HuRef esv1341060 7 8338837 8338837 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605884 S 2 1 0 "" HuRef nsv519059 7 8370673 8389633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696530 S 2026 0 1 "" nsv887496 7 8373135 8678829 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542950 S 6533 1 0 NXPH1 MS15973 nsv830896 7 8411116 8567003 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445901 S 95 1 0 NXPH1 esv24581 7 8430119 8432074 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15437 S 451 0 1 "" NA12749 nsv517461 7 8431094 8431499 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692303,nssv674287,nssv655343,nssv668708,nssv667971,nssv652088,nssv690378,nssv693682,nssv655924,nssv683033,nssv690023 M 2026 0 11 "" nsv818477 7 8431094 8441303 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418378,nssv1418377 M 112 0 2 NXPH1 NA10847,NA12146 nsv830897 7 8445290 8651958 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445902 S 95 1 0 NXPH1 nsv887497 7 8494690 8517173 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518787 S 6533 1 0 NXPH1 SP58114 esv272001 7 8501454 8501790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546287,essv2568414,essv2523215,essv2531980,essv2535305,essv2520500,essv2564639,essv2576491,essv2520130,essv2557290,essv2532406,essv2569427,essv2538864,essv2527025,essv2561379,essv2550903,essv2556415,essv2529588,essv2575693,essv2526454,essv2560647,essv2524165,essv2574810,essv2545103,essv2537973,essv2563259 M 157 26 0 Samples from several populations that are part of the HapMap project. NXPH1 NA07000,NA10847,NA11881,NA11995,NA12004,NA12006,NA12249,NA12716,NA12751,NA12814,NA12815,NA18499,NA18505,NA18508,NA18519,NA18522,NA18523,NA18858,NA18871,NA19093,NA19099,NA19114,NA19116,NA19129,NA19138,NA19172 nsv887498 7 8538140 8561914 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583864 S 6533 1 0 NXPH1 IS36689 nsv519262 7 8589612 8590239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696754 S 2026 0 1 NXPH1 esv2541093 7 8664571 8666037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194662 S 1 0 1 NXPH1 NA18507 esv1995943 7 8664974 8665559 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883896 S 1 0 1 NXPH1 NA18507 esv3131 7 8665055 8665450 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25572 S 1 0 1 Single Asian sample YH NXPH1 YH esv6164 7 8665098 8665376 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28605 S 1 0 1 NXPH1 SJK esv1006527 7 8665153 8665370 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566526 S 3 0 1 NXPH1 HuRef esv1763008 7 8665155 8665373 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615485 S 2 0 1 NXPH1 HuRef nsv518729 7 8706765 9141130 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696179 S 2026 1 0 NXPH1 nsv469922 7 8709006 8727500 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545143 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NXPH1 HGDP01408 nsv464310 7 8709006 8727501 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540243 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NXPH1 HGDP01408 esv2032041 7 8716614 8717295 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4591986 S 1 0 1 NXPH1 NA18507 esv2633635 7 8716666 8718178 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267983 S 1 0 1 NXPH1 NA18507 esv2493792 7 8716789 8717115 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288470 S 1 0 1 NXPH1 NA18507 nsv519648 7 8727501 8730890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696972 S 2026 0 1 NXPH1 nsv520962 7 8727501 8738675 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697710 S 2026 0 1 NXPH1 esv2422215 7 8738402 8831946 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161392 S 181 0 1 NXPH1 ND01588 nsv887499 7 8754768 8782040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568311,nssv1534134 M 6533 0 2 NXPH1 IS31233,MS11467 nsv819939 7 8758517 8758791 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419614 S 2 1 0 NXPH1 AK1 nsv469933 7 8760943 8775211 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545154 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00892 nsv887500 7 8767329 8782040 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515764 S 6533 0 1 "" SP56267 nsv518400 7 8767495 8768958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695830 S 2026 0 1 "" nsv887501 7 8772553 8817310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575347 S 6533 0 1 "" IS33719 dgv7163n71 7 8782040 8834075 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887504,nsv887510,nsv887509,nsv887503,nsv887502 M 6533 0 191 "" IS30098,IS30109,IS30139,IS30206,IS30213,IS30277,IS30280,IS30348,IS30378,IS30423,IS30455,IS30504,IS30530,IS30742,IS30764,IS30766,IS30781,IS31147,IS31207,IS31335,IS31359,IS31369,IS31385,IS31563,IS31602,IS31634,IS31768,IS31804,IS31821,IS31915,IS32282,IS32761,IS32787,IS32850,IS33027,IS33129,IS33208,IS33258,IS33559,IS33596,IS33689,IS33691,IS33738,IS33760,IS33768,IS33774,IS33776,IS33792,IS33795,IS33839,IS33865,IS34081,IS34092,IS34264,IS34340,IS34684,IS34756,IS34786,IS34807,IS35053,IS35076,IS35114,IS35186,IS35349,IS35390,IS35445,IS35447,IS35487,IS35568,IS35637,IS35675,IS35728,IS35800,IS35833,IS35846,IS35963,IS36011,IS36077,IS36248,IS36287,IS36298,IS36458,IS36559,IS36752,IS36787,IS36963,IS37194,IS37207,IS37238,IS37292,IS37325,IS37458,IS37860,IS37866,IS37884,IS37992,IS38002,IS38015,IS38115,IS38129,IS38137,IS38142,IS38161,IS38182,IS38219,IS38242,IS38262,IS38309,IS38333,IS38334,IS38350,IS38379,IS38412,IS38416,IS38459,IS38479,IS38577,IS38579,IS38617,IS38654,IS38663,IS38810,IS38995,IS39125,IS39243,IS39250,IS39322,IS39335,IS39347,IS39353,IS39363,IS39388,IS39522,IS39526,IS39532,IS39627,IS39637,IS39714,IS39861,IS39900,IS39914,IS39961,IS39996,IS39999,IS40005,IS40068,IS40156,IS40224,IS40240,IS40309,IS40361,IS40373,IS40420,IS40495,IS40627,IS40673,IS40707,IS40748,IS40834,IS40849,IS40886,IS40920,IS40943,IS40956,IS41025,IS41034,IS41051,IS41105,IS41172,IS41319,IS41424,IS41562,IS41647,IS41783,IS41795,IS41852,IS41901,IS41997,MS11191,MS12674,MS12812,MS16393,MS16616,MS16965,MS17508,MS17970,MS18873,MS21925,MS22797,MS22894,MS24108 nsv516028 7 8788359 8788633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686118,nssv665813 M 2026 0 2 "" dgv799n27 7 8788359 8834075 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464325,nsv464327,nsv464313,nsv464326,nsv464314 M 1557 0 5 "" 1780862301_A,1782681110_A,HGDP00388,HGDP00698,NINDS_91 dgv7164n71 7 8788633 8848834 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887512,nsv887505,nsv887511,nsv887506 M 6533 0 13 "" IS30319,IS31189,IS34353,IS34762,IS34775,IS35227,IS35952,IS38263,IS39666,IS40657,IS41317,IS41802,IS41860 nsv887507 7 8788633 8860569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597473 S 6533 0 1 "" IS40890 dgv2055e1 7 8790479 8850602 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1017,essv23289 M 271 0 0 "" NA12006 dgv7165n71 7 8791785 8833529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887514,nsv887508,nsv887513 M 6533 0 3 "" IS36657,IS38268,MS17798 esv26885 7 8793032 8832731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15085 S 451 0 1 "" NA12006 nsv464315 7 8797623 8810973 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540246 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00624 dgv800n27 7 8797623 8826141 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464329,nsv464316,nsv464321,nsv464332,nsv464319,nsv464323,nsv464324,nsv464331,nsv464320,nsv464330,nsv464318,nsv464322 M 1557 0 12 "" 1780854525_A,HGDP00025,HGDP00139,HGDP00226,HGDP00364,HGDP00644,HGDP00674,HGDP00675,HGDP00746,HGDP01282,NINDS_228,NINDS_31 nsv469944 7 8797623 8826141 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545220,nssv545165,nssv545209,nssv545176,nssv545198,nssv545187 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00052,HGDP00388,HGDP00624,HGDP00675,HGDP00698,HGDP01282 nsv515520 7 8797623 8826141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658526,nssv660461,nssv662868,nssv682734,nssv692478,nssv686011,nssv660405,nssv663687,nssv685801,nssv687830,nssv699385,nssv690539,nssv693523,nssv683699,nssv684341,nssv691799,nssv692014,nssv684847,nssv670639,nssv683112,nssv653444,nssv686268,nssv693988 M 2026 0 23 "" esv33738 7 8804031 8829922 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100969 S 51 0 1 "" 21693 nsv464333 7 8804368 8867801 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540264 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00776 dgv801n27 7 8808509 8826141 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464336,nsv464334,nsv464335,nsv464338,nsv464337 M 1557 0 5 "" HGDP00019,HGDP00052,HGDP00127,HGDP00177,HGDP00412 nsv464340 7 8812582 8834075 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540271 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00169 nsv887515 7 8834075 8874372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552192 S 6533 0 1 "" MS19277 nsv887516 7 8834075 8891902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557568 S 6533 0 1 "" MS22756 nsv5635 7 8837552 8867172 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2753,nssv6114,nssv10534 M 9 3 0 "" NA12156,NA18555,NA18956 nsv527733 7 8839252 8843781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704216 S 2026 0 1 "" nsv509189 7 8850882 8872723 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623504 S 4 1 0 "" NA18994 esv1006008 7 8853240 8853559 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564038 S 3 1 0 "" HuRef nsv830898 7 8874131 9016930 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445903 S 95 0 1 "" nsv887517 7 8876557 8970101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554948 S 6533 1 0 "" MS21117 nsv521591 7 8886512 8941337 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698208 S 2026 1 0 "" nsv464341 7 8901142 8965665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540272 S 1557 0 1 "" NINDS_21 nsv464342 7 8914958 8976761 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540273 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01225 esv269280 7 8919672 8919775 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504286,essv2506194,essv2493965,essv2506858,essv2497042 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18523,NA18871,NA19102,NA19190 nsv469955 7 8920383 8976847 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545231 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01225 nsv887518 7 8935094 8959409 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586501,nssv1587868 M 6533 0 2 "" IS37841,IS38126 nsv523286 7 8954360 8966262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699025 S 2026 0 1 "" nsv824004 7 8958999 8960529 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434480 S 31 1 0 "" NA18570 nsv521202 7 8959409 8966262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697842 S 2026 0 1 "" esv29395 7 8959411 8960959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16779 S 451 5 0 "" NA12006,NA12489,NA18502,NA18517,NA18858 nsv520708 7 8965606 8966262 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691341,nssv674380,nssv683489 M 2026 0 3 "" nsv521592 7 8971657 9024490 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698209 S 2026 1 0 "" nsv518115 7 8973421 8975806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695529 S 2026 0 1 "" nsv887519 7 8990906 9094766 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554949 S 6533 1 0 "" MS21117 nsv365510 7 8998068 8998146 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384088 M 24 "" nsv887520 7 9006332 9094766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591890 S 6533 0 1 "" IS39088 esv1697068 7 9022183 9022183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812973 S 2 1 0 "" HuRef nsv528544 7 9024208 9202550 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705156 S 2026 0 1 "" esv1650979 7 9026907 9026907 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3820886 S 2 1 0 "" HuRef nsv469966 7 9032697 9049089 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545242 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00921 nsv887521 7 9035988 9064472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567957 S 6533 0 1 "" IS31179 nsv521383 7 9038910 9054506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697993 S 2026 0 1 "" dgv2056e1 7 9040174 9208374 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18626,essv23691,esv766 M 271 0 0 "" NA10863,NA12234 nsv5636 7 9041789 9075535 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10535,nssv4967,nssv3502,nssv6115 M 9 4 0 "" NA12156,NA12878,NA18956,NA19129 dgv404n21 7 9051384 9144901 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528175,nsv517538 M 2026 0 4 "" nsv519910 7 9054506 9058154 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697119 S 2026 0 1 "" nsv887522 7 9054506 9110765 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503164 S 6533 0 1 "" SP51494 nsv509190 7 9055122 9069430 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623505,nssv619477 M 4 2 0 "" NA10860,NA18994 esv1006597 7 9057476 9057481 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563977 S 3 1 0 "" HuRef nsv830899 7 9068879 9232952 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445913,nssv1445905,nssv1445904,nssv1445912,nssv1445908,nssv1445907,nssv1445911,nssv1445910,nssv1445909 M 95 9 0 "" dgv222e55 7 9083817 9199580 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752189,esv34744 M 771 0 2 "" BEC_821,NA10863 dgv2057e1 7 9086521 9208374 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20977,essv19853 M 271 0 0 "" NA10863,NA12234 nsv442029 7 9093698 9196410 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8044 7 9094456 9197846 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15020,nssv15666 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA18853 nsv464344 7 9094766 9185482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540274 S 1557 0 1 "" 1780862176_A nsv818479 7 9094766 9189993 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417605,nssv1417594 M 112 0 2 "" NA10863,NA12234 nsv469977 7 9099067 9154540 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545254 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 dgv223e55 7 9106762 9180628 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752190,esv35139 M 771 0 2 "" BEC_502,NA12234 nsv464345 7 9120827 9144901 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540275 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv887523 7 9120827 9160323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548277 S 6533 1 0 "" MS17785 esv2594904 7 9132254 9133632 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185822 S 1 0 1 "" NA18507 nsv510066 7 9183845 9189845 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621302 S 4 0 1 "" NA15510 nsv8045 7 9208168 9210399 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15999 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 esv273678 7 9223901 9224290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580713,essv2579371,essv2579661 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270176 7 9224074 9224225 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494677,essv2498550,essv2507170,essv2496900,essv2512186,essv2501761,essv2497983,essv2502103 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18858,NA18870,NA19190,NA19238,NA19239,NA19240,NA19257 nsv818480 7 9224521 9241018 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417876 S 112 1 0 "" NA18852 nsv824005 7 9253462 9265583 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436705 S 31 0 1 "" NA18542 nsv523576 7 9265944 9268241 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699361 S 2026 1 0 "" nsv464346 7 9343580 9382800 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540276 S 1557 0 1 "" NINDS_234 nsv887524 7 9370756 9436222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505664 S 6533 0 1 "" SP53821 dgv7166n71 7 9382800 9589818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887525,nsv887526 M 6533 0 2 "" IS31679,IS41924 nsv887527 7 9400633 9519740 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584214 S 6533 0 1 "" IS36909 nsv524824 7 9411962 9425020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700820 S 2026 0 1 "" nsv524752 7 9457316 9501321 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700743 S 2026 1 0 "" dgv802n27 7 9457316 9508524 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464347,nsv464348 M 1557 2 0 "" 1780862226_A,1782681313_A dgv7167n71 7 9457316 9558193 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887532,nsv887528,nsv887531 M 6533 0 4 "" IS33545,IS39718,MS15199,MS22104 dgv7168n71 7 9463019 9519740 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887530,nsv887529 M 6533 0 2 "" IS31617,MS20872 esv27104 7 9481910 9482523 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12822 S 451 0 1 "" NA18858 nsv511374 7 9485047 9497604 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625979 S 1 1 0 "" 1 esv29300 7 9487926 9490459 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17395 S 451 0 1 "" NA15510 nsv521354 7 9488459 9503726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697965 S 2026 0 1 "" nsv525708 7 9503726 9529436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701870 S 2026 0 1 "" nsv464349 7 9518888 9539427 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540279 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891 nsv516398 7 9519740 9538623 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693796,nssv658483,nssv668028 M 2026 0 3 "" nsv469988 7 9519740 9543940 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545265 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891 nsv887533 7 9534049 9629332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577887 S 6533 0 1 "" IS34599 nsv887534 7 9549438 9628591 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513758 S 6533 1 0 "" SP55842 dgv7169n71 7 9560331 9608974 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887535,nsv887536 M 6533 0 2 "" IS41964,MS17114 dgv803n27 7 9563589 9593682 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464351,nsv464352 M 1557 0 2 "" 1798860071_A,HGDP00647 nsv887537 7 9573664 9674747 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559767 S 6533 0 1 PER4 MS24135 esv267713 7 9577764 9577857 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575853,essv2521110,essv2536613,essv2554104,essv2547273,essv2577870 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA11894,NA11920,NA12287,NA12717,NA12761 nsv528412 7 9581086 9751778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705004 S 2026 0 1 PER4 nsv516131 7 9582668 9582933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659726,nssv666405 M 2026 0 2 "" esv2462436 7 9600834 9603247 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207691 S 1 0 1 "" NA18507 nsv511947 7 9601037 9602904 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624486 S 1 0 1 "" 1 esv2992 7 9601139 9602661 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25433 S 1 0 1 Single Asian sample YH "" YH esv999509 7 9601168 9604997 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565135 S 3 0 1 "" HuRef esv1676070 7 9601175 9602518 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999531 S 2 0 1 "" HuRef esv6626 7 9601178 9602536 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29067 S 1 0 1 "" SJK esv2646200 7 9613989 9615397 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181882 S 1 0 1 "" NA18507 esv2323326 7 9614325 9614815 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754810 S 1 0 1 "" NA18507 esv3449 7 9614409 9614768 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25890 S 1 0 1 Single Asian sample YH "" YH nsv510067 7 9626628 9632628 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621303 S 4 0 1 "" NA15510 esv29015 7 9642715 9646944 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17114 S 451 0 2 "" NA11894,NA12776 nsv887538 7 9649521 9690241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596533,nssv1560196 M 6533 0 2 "" IS40557,MS24365 nsv887539 7 9649521 9734036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518656 S 6533 0 1 "" SP57874 dgv7170n71 7 9674747 9836722 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887542,nsv887540 M 6533 0 2 "" IS41113,MS20857 nsv887541 7 9678651 9761156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562499 S 6533 0 1 "" MS25617 nsv830900 7 9682130 9848467 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445914 S 95 1 0 "" nsv469999 7 9724279 9855812 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545276 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00591 dgv7171n71 7 9724280 9810288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887543,nsv887546 M 6533 0 3 "" IS40067,MS12071,MS12947 nsv887544 7 9724280 9886165 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545147 S 6533 1 0 "" MS16697 nsv464354 7 9724280 10015056 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540283 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00151 dgv7172n71 7 9724280 10028866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887550,nsv887545 M 6533 4 0 "" IS34686,IS36527,IS41838,MS26033 esv269986 7 9731890 9732274 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510557,essv2513546,essv2498696 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18907,NA19138 dgv7173n71 7 9735738 9860269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887549,nsv887548,nsv887547,nsv887552,nsv887551 M 6533 0 7 "" IS30432,IS35911,IS41043,IS41924,MS10126,MS11669,MS17114 esv34783 7 9758282 9882419 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979432,essv6979433,essv6986865,essv6986866,essv6979431 M 771 1 0 "" NA18552 dgv7174n71 7 9761156 9880177 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887559,nsv887555,nsv887557,nsv887554,nsv887556,nsv887562,nsv887553 M 6533 13 0 "" MS21088,MS24783,SP50598,SP52025,SP54127,SP54652,SP54685,SP54952,SP55637,SP55694,SP55952,SP56757,SP56971 nsv8046 7 9767183 9876667 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15358,nssv15496 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA19144 esv2591453 7 9768632 9771832 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350335 S 1 0 1 "" NA18507 esv2160379 7 9770163 9770569 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905783 S 1 0 1 "" NA18507 nsv824006 7 9771779 9873532 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422668 S 31 1 0 "" NA18552 dgv2058e1 7 9772017 9892748 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5984,esv1432 M 271 0 0 "" NA18552 esv271989 7 9772094 9772392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510626,essv2513254,essv2498745,essv2502065 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18907,NA19138,NA19257 nsv518054 7 9773290 9774990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695464 S 2026 0 1 "" nsv887558 7 9774990 9836722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567088,nssv1588043,nssv1535569,nssv1537934,nssv1569614 M 6533 0 5 "" IS31044,IS31651,IS38148,MS12266,MS13426 nsv887560 7 9774990 9865905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532152 S 6533 0 1 "" MS10727 nsv528694 7 9774990 9873235 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705339 S 2026 1 0 "" dgv7175n71 7 9786135 9844776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887561,nsv887563,nsv887564,nsv887565 M 6533 0 5 "" IS31166,IS31306,IS36244,IS39718,IS41068 nsv887566 7 9797770 9860269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567012,nssv1558988 M 6533 0 2 "" IS31041,MS23670 dgv7176n71 7 9804228 9880177 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887568,nsv887569,nsv887567 M 6533 3 0 "" SP52913,SP53256,SP54356 nsv521473 7 9813821 9924083 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698084 S 2026 1 0 "" nsv527635 7 9836722 9854838 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704104 S 2026 1 0 "" dgv7177n71 7 9843004 10322603 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887570,nsv887571 M 6533 5 0 "" MS11616,MS13195,MS22112,MS22440,MS25327 esv995024 7 9852590 9852846 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585161 S 3 0 1 "" HuRef esv271576 7 9852829 9853124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516347,essv2514436 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12874 nsv529035 7 9860269 9928022 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705746 S 2026 1 0 "" nsv428161 7 9862060 10005653 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450919 S 62 1 0 "" HGDP00462 nsv464355 7 9865905 9928022 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540284 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00462 nsv470011 7 9865905 9928022 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545287 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00462 nsv522545 7 9880177 9960922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705925 S 2026 0 1 "" nsv507374 7 9906231 9912231 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622997,nssv621867,nssv620365 M 4 3 0 "" NA10860,NA15510,NA18994 nsv521630 7 9922275 10171439 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698249 S 2026 0 1 "" nsv887572 7 9945064 10079801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583059 S 6533 0 1 "" IS36244 nsv464356 7 9965479 10015056 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540285 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00918 nsv470022 7 9965479 10030213 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545298 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00918 esv268923 7 9980911 9981200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511295,essv2509208 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18570,NA18909 dgv7178n71 7 9983924 10059780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887573,nsv887574 M 6533 0 2 "" IS30372,MS14359 nsv5637 7 9991346 10034979 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8340 S 9 0 1 "" NA12156 dgv804n27 7 10014470 10055131 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464358,nsv464357 M 1557 0 2 "" 1780862576_A,1782681096_A dgv7179n71 7 10015056 10070682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887576,nsv887579,nsv887575,nsv887578,nsv887577 M 6533 0 15 "" SP50612,SP50775,SP52651,SP53583,SP53876,SP53883,SP54063,SP55642,SP55800,SP56138,SP56795,SP57642,SP58209,SP81266,SP81388 nsv887580 7 10015056 10127475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551776 S 6533 0 1 "" MS18978 dgv1091n67 7 10048109 10049383 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824008,nsv824007 M 31 0 2 "" NA18542,NA18968 nsv464359 7 10070682 10107014 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540288 S 1557 0 1 "" NINDS_178 dgv7180n71 7 10083530 10148760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887583,nsv887581,nsv887582 M 6533 0 3 "" IS38388,MS25227,SP50179 nsv464360 7 10113178 10147716 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540289 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01050 dgv805n27 7 10127475 10188528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464363,nsv464362 M 1557 0 2 "" HGDP01041,HGDP01044 nsv887584 7 10148760 10192955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505520 S 6533 0 1 "" SP53601 nsv887585 7 10148760 10284821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505049 S 6533 0 1 "" SP53041 nsv887586 7 10154861 10224619 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518141 S 6533 0 1 "" SP57469 esv9351 7 10168446 10168548 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31792 S 1 1 0 "" SJK esv1481251 7 10169125 10169187 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880861 S 2 0 1 "" HuRef esv2536811 7 10181594 10182641 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199646 S 1 1 0 "" NA18507 esv269008 7 10181846 10181931 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517988,essv2519144,essv2513663 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12872,NA19141 nsv887587 7 10196959 10246011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561833 S 6533 0 1 "" MS25250 esv2104399 7 10211197 10211601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596241 S 1 0 1 "" NA18507 nsv518653 7 10245331 10246011 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696102 S 2026 1 0 "" dgv7181n71 7 10275485 10440930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887588,nsv887589 M 6533 0 6 "" IS32167,IS38993,MS10098,MS10636,MS17902,SP55489 nsv521555 7 10285527 10286331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698170 S 2026 0 1 "" dgv7182n71 7 10285539 10578996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887591,nsv887590 M 6533 0 5 "" IS30226,IS32651,IS34748,IS37979,IS39527 nsv887592 7 10298197 10375112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532310 S 6533 0 1 "" MS10756 dgv7183n71 7 10375112 10459151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887593,nsv887594 M 6533 0 2 "" IS31307,IS35516 esv8451 7 10411045 10411516 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30892 S 1 0 1 "" SJK esv2451805 7 10413668 10415117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252488 S 1 0 1 "" NA18507 nsv508446 7 10446046 10515467 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618805 S 4 0 1 "" NA10860 esv1003069 7 10455139 10466589 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586265 S 3 1 0 "" HuRef nsv887595 7 10459924 10664878 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581156 S 6533 0 1 "" IS35516 nsv887596 7 10459924 10818917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504033 S 6533 0 1 "" SP52165 esv2555839 7 10469801 10473797 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190188 S 1 0 1 "" NA18507 esv2585618 7 10470004 10473198 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250749 S 1 0 1 "" NA18507 nsv511948 7 10470270 10473396 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624487 S 1 0 1 "" 1 esv2005840 7 10470668 10472861 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748403 S 1 0 1 "" NA18507 nsv365516 7 10470825 10472658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384094 M 24 "" esv1374208 7 10471477 10471477 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177588 S 2 1 0 "" HuRef nsv523320 7 10485134 10486412 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699062 S 2026 0 1 "" nsv528047 7 10485134 10548640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704579 S 2026 0 1 "" nsv518683 7 10492451 10503381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696132 S 2026 0 1 "" dgv7184n71 7 10492451 10578996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887598,nsv887597 M 6533 0 2 "" IS34658,IS41926 nsv520781 7 10495856 10525304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680329,nssv675382 M 2026 0 2 "" nsv521129 7 10503381 10612417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694418 S 2026 0 1 "" esv6421 7 10509205 10541461 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28862 S 1 0 1 "" SJK nsv527986 7 10521275 10584314 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704505 S 2026 1 0 "" esv2232855 7 10523105 10534413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913500 S 1 0 1 "" NA18507 esv28386 7 10595271 10596429 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19921 S 451 5 0 "" NA12239,NA12776,NA18858,NA19099,NA19225 nsv821470 7 10595271 10596429 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420639 S 1 0 1 "" NA10851 nsv887599 7 10618684 10697778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543095 S 6533 0 1 "" MS16047 nsv519923 7 10761590 10765017 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659512,nssv690375,nssv661995,nssv672905 M 2026 0 4 "" esv2752139 7 10765017 10920744 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984840,essv6990030,essv6984841 M 771 0 1 "" SPC_183 nsv887600 7 10774210 11057071 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529559 S 6533 1 0 NDUFA4,PHF14 SP81578 esv2752140 7 10783585 10996273 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981995,essv6981996,essv6981997,essv6987101,essv6987100 M 771 1 0 NDUFA4,PHF14 BEC_510 nsv824010 7 10785599 10786894 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429882 S 31 1 0 "" AK14 esv998967 7 10786120 10786894 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587272 S 3 0 1 "" HuRef nsv824011 7 10786120 10786894 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430648 S 31 1 0 "" AK16 esv3666 7 10801178 10801471 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26107 S 1 0 1 Single Asian sample YH "" YH esv1285894 7 10801413 10801413 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209580 S 2 1 0 "" HuRef nsv524017 7 10833212 10842419 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699877 S 2026 0 1 "" nsv464364 7 10871277 10955391 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540293 S 1557 0 1 NDUFA4 NINDS_179 nsv887601 7 10879474 11016048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562373 S 6533 1 0 NDUFA4,PHF14 MS25529 nsv470033 7 10892155 10920744 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545309 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00458 esv270307 7 10913838 10913923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514133 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv819766 7 10980063 10980890 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419096 S 2 1 0 PHF14 AK1 dgv7185n71 7 11038518 11198252 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887602,nsv887603 M 6533 0 2 PHF14 IS35742,MS18978 nsv428162 7 11052309 11325858 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450921 S 62 0 1 PHF14 HGDP00449 nsv830901 7 11059980 11238744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445915 S 95 1 0 PHF14 dgv405n21 7 11164718 11442344 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518180,nsv523279 M 2026 2 0 PHF14,THSD7A nsv526652 7 11180765 11183307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702979 S 2026 0 1 "" esv275415 7 11194785 11197521 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585832 S 1250 0 1 "" esv9059 7 11195767 11196414 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31500 S 1 0 1 "" SJK nsv517952 7 11204552 11212678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694185 S 2026 0 1 "" nsv510068 7 11248050 11254050 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618252 S 4 0 1 "" CHM esv27053 7 11248428 11249005 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19686 S 451 0 1 "" NA18511 nsv437534 7 11261416 11285980 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467415 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19161 nsv5638 7 11273659 11307354 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8341 S 9 0 1 "" NA12156 dgv2059e1 7 11274532 11318799 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1364,essv16 M 271 0 0 "" NA18945 dgv7186n71 7 11275165 11317629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887604,nsv887605 M 6533 0 5 "" SP50720,SP50914,SP51118,SP52371,SP54311 nsv522683 7 11300952 11301693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706091 S 2026 0 1 "" nsv830902 7 11303052 11490429 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445916 S 95 1 0 THSD7A nsv524685 7 11347983 11348452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700656 S 2026 0 1 "" nsv830903 7 11351482 11552901 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445918 S 95 1 0 THSD7A nsv526631 7 11359659 11370519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702953 S 2026 0 1 "" nsv525858 7 11433947 11442344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702054 S 2026 0 1 THSD7A nsv887606 7 11440086 11737813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571752 S 6533 1 0 THSD7A IS32805 nsv887607 7 11485443 11498204 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580039 S 6533 0 1 THSD7A IS35227 nsv523264 7 11488067 11489050 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698998 S 2026 0 1 THSD7A nsv464366 7 11489050 11569424 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540294 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations THSD7A HGDP00003 nsv527252 7 11511135 11513809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703656 S 2026 0 1 THSD7A nsv464367 7 11511135 11526887 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540295 S 1557 0 1 THSD7A NINDS_212 nsv887608 7 11511135 11530726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509143 S 6533 0 1 THSD7A SP54753 dgv7187n71 7 11513809 11547646 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887610,nsv887609 M 6533 0 2 THSD7A MS23768,SP55024 esv2408291 7 11527466 11528009 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531302 S 1 0 1 THSD7A NA18507 nsv510069 7 11528422 11534422 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618253 S 4 0 1 THSD7A CHM esv28198 7 11569288 11570811 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10599 S 451 2 0 THSD7A NA07045,NA12239 nsv887611 7 11679344 11744949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557410 S 6533 0 1 THSD7A MS22662 nsv510070 7 11691733 11697733 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624023 S 4 0 1 THSD7A NA18994 dgv7188n71 7 11723301 11772814 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887612,nsv887613 M 6533 0 2 THSD7A MS17909,MS18847 nsv524308 7 11740325 11741426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700209 S 2026 0 1 THSD7A nsv887614 7 11744949 12177723 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571753 S 6533 1 0 THSD7A IS32805 esv274953 7 11749162 11752417 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585736,essv2586011 M 1250 1 1 THSD7A nsv525415 7 11758146 11762123 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701539 S 2026 0 1 THSD7A nsv830905 7 11760038 11908119 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445919 S 95 0 1 THSD7A esv270634 7 11792740 11793037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506164,essv2505738,essv2501516,essv2504737,essv2506878,essv2510878,essv2499763 M 157 7 0 Samples from several populations that are part of the HapMap project. THSD7A NA18523,NA18861,NA19093,NA19099,NA19102,NA19116,NA19225 nsv887615 7 11837236 11904585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594031 S 6533 0 1 THSD7A IS39666 esv7381 7 11842324 11845133 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29822 S 1 0 1 "" SJK nsv824012 7 11844008 11844647 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441131,nssv1438903 M 31 0 2 "" NA18969,NA18973 nsv519418 7 11851207 11867004 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696843 S 2026 0 1 "" nsv464368 7 11851207 11887071 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540296 S 1557 0 1 "" 1780854464_A dgv7189n71 7 11851207 11905958 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887618,nsv887616,nsv887617 M 6533 0 3 "" IS39784,MS14610,MS20616 nsv887619 7 11860113 12009756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565802 S 6533 0 1 "" IS30522 nsv887620 7 11875288 11960035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580225 S 6533 0 1 "" IS35244 nsv887621 7 11882879 11916586 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600775,nssv1588691 M 6533 0 2 "" IS38235,IS41924 nsv887622 7 11882879 11931877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541162 S 6533 0 1 "" MS15199 esv24569 7 11887119 11889213 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18911 S 451 0 1 "" NA07045 esv2421439 7 11887330 11888350 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5021305,essv5150009,essv5072439,essv5152782,essv5032813,essv5087587,essv5152368,essv5059074,essv5012352,essv5053878,essv5033532,essv5006597,essv5029769,essv5048962,essv5139164,essv5127320,essv5130300,essv5088019,essv5126935 M 1184 0 19 "" NA07045,NA12753,NA12763,NA12813,NA12827,NA12830,NA19719,NA19721,NA19794,NA19796,NA20510,NA20512,NA20522,NA20539,NA20542,NA20756,NA20808,NA20812,NA20908 nsv517313 7 11887927 11888350 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693443,nssv685259,nssv662500,nssv669076,nssv684875,nssv651685,nssv684581,nssv682274,nssv652437,nssv672460,nssv683697,nssv673354,nssv691276,nssv651710,nssv672832,nssv679530 M 2026 0 16 "" dgv2060e1 7 11893764 12075944 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2508,esv382 M 271 0 0 "" NA19003 nsv464369 7 11898092 11928645 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540297 S 1557 0 1 "" 1780854449_A nsv887623 7 11899416 11937854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541432 S 6533 0 1 "" MS15312 nsv887624 7 11907573 11990389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536739 S 6533 0 1 "" MS12943 esv26303 7 11913025 11913471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11288 S 451 0 1 "" NA12156 nsv464370 7 11942082 11977322 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540298 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00469 nsv887625 7 11948520 12013028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568951 S 6533 0 1 "" IS31373 esv273353 7 11948799 11949121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580929 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268707 7 11948934 11949184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502876,essv2496774,essv2493743,essv2503349,essv2494614,essv2508212,essv2509959,essv2499273,essv2507563,essv2505333,essv2509138,essv2497839,essv2503518,essv2503709,essv2502623,essv2500746,essv2505585,essv2501254,essv2504667,essv2506632,essv2497501,essv2512134 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA12156,NA18498,NA18517,NA18542,NA18550,NA18579,NA18593,NA18605,NA18638,NA18853,NA18909,NA18945,NA18947,NA18960,NA18965,NA18973,NA19005,NA19093,NA19099,NA19108,NA19147,NA19238 nsv830906 7 11968289 12144394 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445920 S 95 1 0 "" esv2531786 7 11969094 11977688 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387595 S 1 0 1 "" NA18507 esv2021986 7 11969652 11977287 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953090 S 1 0 1 "" NA18507 esv2522632 7 11969663 11978429 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373946 S 1 0 1 "" NA18507 esv27298 7 11969863 11976648 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11448 S 451 0 1 "" NA19099 nsv515497 7 11969941 11976479 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667985,nssv664660,nssv656871,nssv666836,nssv660805,nssv672992,nssv669203,nssv692565,nssv666008,nssv677140,nssv657264,nssv683312,nssv680780,nssv672272,nssv662063,nssv665184,nssv660853,nssv657566,nssv652786,nssv675682,nssv658905,nssv677743,nssv692720,nssv666954,nssv676039,nssv655764,nssv669943,nssv687305,nssv673542,nssv674839,nssv660915,nssv681177,nssv651776,nssv664130,nssv693174,nssv657305,nssv695930 M 2026 0 37 "" esv2422073 7 11969941 11976527 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5081377,essv5121862,essv5004753,essv5038626,essv5133557,essv5155480,essv5095017,essv5107001,essv5055639,essv5117472,essv5148997,essv5058256,essv5085605,essv5146222,essv5087683,essv5154824,essv5052111,essv5139470,essv5078264,essv5116866,essv5140706,essv5098561,essv5122979,essv5126217,essv5155804,essv5005593,essv5126443,essv5116280 M 1184 0 28 "" NA18484,NA18486,NA18506,NA18507,NA19099,NA19131,NA19137,NA19138,NA19182,NA19183,NA19184,NA19189,NA19197,NA19209,NA19235,NA19328,NA19347,NA19374,NA19398,NA19431,NA19445,NA19909,NA20340,NA21363,NA21403,NA21415,NA21685,NA21719 nsv519162 7 11969941 11980786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696644 S 2026 0 1 "" nsv818481 7 11969941 11990389 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416941,nssv1416942 M 112 0 2 "" NA19137,NA19138 nsv441821 7 11971497 11976296 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514404 7 11972351 11975685 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627857 S 1414 0 1 "" nsv522468 7 11976479 11980786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705832 S 2026 0 1 "" esv21450 7 11982759 11985206 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16678 S 451 0 3 "" NA12878,NA18523,NA18909 esv2554206 7 11989816 11991333 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184446 S 1 0 1 "" NA18507 esv2329154 7 11990568 11991217 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826573 S 1 0 1 "" NA18507 esv2895 7 11990691 11991107 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25336 S 1 0 1 Single Asian sample YH "" YH esv1762584 7 11990769 11991038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771477 S 2 0 1 "" HuRef esv5659 7 11990769 11991043 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28100 S 1 0 1 "" SJK nsv5639 7 12009926 12036543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4968 S 9 1 0 "" NA19129 esv22114 7 12016250 12018822 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14388 S 451 1 0 "" NA12489 esv2431900 7 12024668 12026323 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198540 S 1 0 1 "" NA18507 esv2286689 7 12025031 12025742 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680283 S 1 0 1 "" NA18507 esv7621 7 12025237 12025555 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30062 S 1 0 1 "" SJK nsv518249 7 12026331 12027586 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695680 S 2026 0 1 "" nsv887626 7 12086045 12118001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538173 S 6533 0 1 "" MS13502 esv25940 7 12088745 12089505 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15410 S 451 1 0 "" NA19225 esv275274 7 12093505 12096415 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585456,essv2585946 M 1250 1 1 "" nsv5640 7 12097498 12132892 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3503 S 9 1 0 "" NA12878 nsv518343 7 12130625 12137021 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695771 S 2026 1 0 "" dgv7190n71 7 12145318 12194417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887628,nsv887627 M 6533 0 3 "" MS10658,MS17275,MS22338 esv1004816 7 12165232 12166597 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564424 S 3 1 0 "" HuRef esv1401205 7 12166441 12166441 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3784482 S 2 1 0 "" HuRef nsv527333 7 12186349 12187286 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703758 S 2026 0 1 "" nsv819594 7 12242314 12242693 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418928 S 2 0 1 TMEM106B AK1 esv2197933 7 12248090 12248749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972773 S 1 0 1 "" NA18507 esv4076 7 12248207 12248681 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26517 S 1 0 1 Single Asian sample YH "" YH dgv228n6 7 12248229 12248558 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv365598,nsv366491 M 24 "" esv1042161 7 12248236 12248558 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366590 S 2 0 1 "" HuRef esv1325050 7 12259953 12259953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140655 S 2 1 0 "" HuRef dgv7191n71 7 12271080 12367362 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887630,nsv887629 M 6533 0 7 VWDE IS32166,IS33129,IS36050,IS37974,IS38446,IS41180,IS41853 esv274370 7 12284959 12285184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579224 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271879 7 12284997 12285215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506189,essv2500462,essv2507858,essv2511327,essv2507591,essv2505359,essv2498587,essv2495549,essv2501942 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18537,NA18564,NA18570,NA18576,NA18853,NA18858,NA18916,NA19239 nsv526409 7 12309988 12311231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702709 S 2026 0 1 "" dgv7192n71 7 12327330 12406197 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887632,nsv887631,nsv887633 M 6533 3 0 VWDE IS30180,IS34530,IS35908 nsv464371 7 12338326 12401296 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540299 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VWDE HGDP00165 nsv887634 7 12351916 12406197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585211 S 6533 1 0 VWDE IS37342 nsv470044 7 12359422 12401296 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545320 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VWDE HGDP00647 nsv887635 7 12376637 12441160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600671 S 6533 0 1 VWDE IS41909 nsv464374 7 12381250 12397140 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540301 S 1557 0 1 VWDE 1780862088_A dgv7193n71 7 12390930 12485737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887636,nsv887637,nsv887638 M 6533 0 3 VWDE IS34768,IS35622,MS21100 nsv516511 7 12406197 12446109 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672796,nssv668764 M 2026 0 2 VWDE nsv887639 7 12415007 12455060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596847 S 6533 0 1 "" IS40657 dgv2061e1 7 12472138 12563060 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14662,esv1218 M 271 0 0 "" NA19145 essv9855 7 12473257 12536902 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv464377 7 12479327 12530653 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540302 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv8048 7 12480985 12531261 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15055,nssv17271,nssv15388,nssv15050,nssv14927,nssv14885,nssv15689,nssv14996,nssv14814 M 31 7 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA18563,NA18853,NA18860,NA18975,NA18980,NA19007,NA19144,NA19173 nsv470055 7 12482695 12530653 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545331 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv519965 7 12482695 12530653 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675455,nssv685738,nssv675490,nssv696207,nssv659725 M 2026 4 1 "" nsv818482 7 12482695 12530653 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418157,nssv1418158 M 112 2 0 "" NA19144,NA19145 nsv887640 7 12485737 12510319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595599 S 6533 1 0 "" IS40280 esv26613 7 12491179 12492057 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10721 S 451 4 0 "" NA18858,NA18861,NA19129,NA19225 nsv820651 7 12491179 12492057 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420640 S 1 0 1 "" NA10851 nsv507375 7 12499327 12505327 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621868,nssv620366 M 4 2 0 "" NA10860,NA15510 nsv528031 7 12502861 12585289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704562 S 2026 0 1 SCIN nsv470066 7 12510319 12585289 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545342 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCIN HGDP01202 esv23056 7 12532679 12534873 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17702 S 451 1 2 "" NA18508,NA18517,NA18909 nsv821131 7 12532679 12534873 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420641 S 1 0 1 "" NA10851 esv1004585 7 12534433 12534511 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583809 S 3 0 1 "" HuRef nsv464379 7 12539267 12585289 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540303 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SCIN HGDP01202 nsv521176 7 12598445 12598610 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683814,nssv690022 M 2026 2 0 SCIN nsv527833 7 12598610 12611027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704329 S 2026 0 1 SCIN nsv818483 7 12607727 12611027 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417877 S 112 1 0 SCIN NA18852 esv2596299 7 12609154 12612276 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247363 S 1 0 1 SCIN NA18507 nsv524108 7 12609921 12610558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699986 S 2026 0 1 SCIN dgv406n21 7 12609921 12611027 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519504,nsv523581 M 2026 0 2 SCIN nsv520866 7 12609921 12612998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697657 S 2026 0 1 SCIN nsv519573 7 12612948 12612998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696928 S 2026 0 1 SCIN nsv830907 7 12627764 12784775 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445921 S 95 0 1 ARL4A,SCIN nsv830908 7 12661532 12837000 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445922 S 95 1 0 ARL4A esv1004276 7 12684090 12685186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567959 S 3 0 1 "" HuRef esv2422346 7 12705816 12850075 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161542 S 181 0 1 "" ND03836 nsv887641 7 12713968 12748587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533257 S 6533 0 1 "" MS11064 nsv464380 7 12743833 12771525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540304 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00909 nsv464381 7 12743833 12792923 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540305 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00906 nsv470077 7 12743833 12792923 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545365,nssv545353 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00906,HGDP00909 nsv521756 7 12806615 12818649 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694523 S 2026 0 1 "" nsv464382 7 12873703 12939210 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540306 S 1557 0 1 "" NINDS_151 nsv824013 7 12876194 12881936 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432120 S 31 0 1 "" AK20 nsv887642 7 12940134 13033723 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577888 S 6533 0 1 "" IS34599 esv33888 7 12941740 12946406 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99967 S 51 0 1 "" 22086 nsv5641 7 12979309 12996783 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3504 S 9 0 1 "" NA12878 nsv818484 7 12988230 12994220 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416166,nssv1416165 M 112 0 2 "" NA12878,NA12891 esv2421827 7 12988634 12994810 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129732,essv5090126,essv5103688,essv5061682,essv5125990,essv5062801,essv5082065,essv5010223,essv5054715,essv5021038,essv5019683,essv5116909,essv5057465,essv5160913,essv5069068,essv5074856,essv5119727,essv5107254,essv5128166 M 1184 0 19 "" NA10856,NA10859,NA11829,NA11881,NA12283,NA12751,NA12878,NA12889,NA12891,NA19776,NA19835,NA19836,NA20516,NA20529,NA20534,NA20761,NA20804,NA20810,NA20889 esv29343 7 12988797 12995065 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11840 S 451 0 1 "" NA12878 esv33094 7 12990703 12994189 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99852 S 51 0 1 "" 22086 nsv517443 7 12990992 12994220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664598,nssv682458,nssv688409,nssv652125,nssv682994,nssv655979,nssv664585,nssv655372,nssv685173,nssv691718,nssv688755,nssv669816,nssv688916,nssv685546,nssv686690,nssv662866,nssv700069,nssv677955,nssv653440,nssv690316,nssv652034 M 2026 0 21 "" nsv887643 7 13053138 13177788 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567318,nssv1583060 M 6533 0 2 "" IS31067,IS36244 nsv437536 7 13066560 13118687 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467417 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 nsv8049 7 13069346 13098157 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16842 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv516983 7 13070161 13090681 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657327,nssv685388,nssv665882,nssv692180,nssv683313,nssv689947,nssv665977,nssv680524,nssv655573,nssv682814,nssv687537,nssv677110,nssv682685,nssv681091,nssv662827,nssv672273,nssv691491,nssv688179,nssv663506,nssv670380,nssv681178,nssv670261,nssv678023,nssv653552,nssv661751,nssv677757,nssv684582,nssv658698,nssv685887,nssv658134,nssv670493,nssv678739,nssv652788,nssv681349 M 2026 0 34 "" nsv437983 7 13070959 13078848 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468898,nssv468899 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA18502 esv26057 7 13071233 13097088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10525 S 451 0 2 "" NA18502,NA18909 esv2421621 7 13071534 13096594 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124607,essv5151026,essv5010838,essv5156276,essv5125397,essv5049370,essv5113813,essv5039968,essv5033988,essv5119023,essv5052367,essv5139826,essv5040424,essv5048642,essv5131764,essv5117415,essv5098784,essv5004597,essv5039421,essv5092009 M 1184 0 20 "" NA18500,NA18873,NA18875,NA18909,NA18911,NA18913,NA19095,NA19096,NA19097,NA19150,NA19197,NA19198,NA19199,NA19222,NA19307,NA19428,NA20277,NA20297,NA20342,NA21300 nsv514405 7 13074573 13085237 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627858 S 1414 0 1 "" nsv441826 7 13074593 13085544 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2645554 7 13076108 13077576 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332238 S 1 0 1 "" NA18507 esv2392621 7 13076297 13076706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530175 S 1 0 1 "" NA18507 esv1961487 7 13076379 13076899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571849 S 1 0 1 "" NA18507 esv2114517 7 13076608 13077004 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648260 S 1 0 1 "" NA18507 esv2849 7 13076664 13076866 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25290 S 1 0 1 Single Asian sample YH "" YH dgv7194n71 7 13097171 13203915 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887644,nsv887646,nsv887645 M 6533 0 3 "" MS14345,MS22644,SP81403 nsv887647 7 13112747 13229111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525301 S 6533 0 1 "" SP56400 esv2064503 7 13137106 13137498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658440 S 1 0 1 "" NA18507 esv1727061 7 13137295 13137353 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988981 S 2 0 1 "" HuRef nsv464385 7 13157475 13179727 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540308 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01355 nsv887648 7 13157475 13235440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571328 S 6533 1 0 "" IS32686 nsv887649 7 13181903 13229111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591111 S 6533 0 1 "" IS38637 nsv887650 7 13187473 13214211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505818 S 6533 0 1 "" SP53990 nsv887651 7 13201608 13255302 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587877 S 6533 0 1 "" IS38128 esv2494410 7 13208554 13210045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382777 S 1 0 1 "" NA18507 dgv35e194 7 13208967 13209520 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2185780,esv2205872 M 1 0 1 "" NA18507 esv4807 7 13209097 13209472 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27248 S 1 0 1 Single Asian sample YH "" YH esv270144 7 13216754 13216839 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518158,essv2513603 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12872 dgv7195n71 7 13235440 13263597 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887657,nsv887652,nsv887658 M 6533 0 4 "" IS35742,IS35771,SP53250,SP54516 dgv7196n71 7 13235440 13282936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887655,nsv887653,nsv887654,nsv887656 M 6533 0 10 "" MS14250,SP51188,SP52058,SP52117,SP53700,SP54905,SP55349,SP57061,SP81046,SP81333 nsv470088 7 13238779 13274211 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545376 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01217 nsv464386 7 13242586 13282776 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540309 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01217 nsv820426 7 13244467 13247621 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420642 S 1 0 1 "" NA10851 nsv824014 7 13244566 13247242 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432121 S 31 0 1 "" AK20 esv25973 7 13244570 13247388 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10613 S 451 24 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12156,NA12287,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18861,NA18916,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv819442 7 13244588 13247341 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419476 S 2 1 0 "" AK1 nsv519939 7 13272067 13273491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697137 S 2026 0 1 "" nsv887659 7 13274211 13290808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503333 S 6533 0 1 "" SP52039 nsv887660 7 13274211 13314553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568751,nssv1551333 M 6533 0 2 "" IS31335,MS18847 dgv7197n71 7 13274211 13443231 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887665,nsv887666,nsv887662,nsv887668,nsv887663,nsv887667,nsv887661 M 6533 0 11 "" IS30593,IS31145,IS31419,IS31768,IS35771,MS10227,MS10802,MS11467,MS17114,MS20872,SP54030 esv275114 7 13282620 13284537 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585746,essv2586105 M 1250 1 1 "" nsv524094 7 13282936 13283215 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699968 S 2026 0 1 "" nsv887664 7 13283215 13355193 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582963 S 6533 0 1 "" IS36219 dgv7198n71 7 13330130 13422451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887669,nsv887670,nsv887671 M 6533 0 3 "" IS30925,IS39011,SP54768 dgv7199n71 7 13330130 13443231 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887672,nsv887676,nsv887673,nsv887675 M 6533 0 13 "" IS31189,IS31373,IS31875,IS35107,IS39784,IS41924,MS13727,MS15199,MS15312,MS18620,MS18978,MS23670,MS24045 esv1380334 7 13336723 13336783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264806 S 2 0 1 "" HuRef nsv366758 7 13336725 13336784 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385336 M 24 "" nsv887674 7 13338219 13382067 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515847 S 6533 0 1 "" SP56294 nsv470099 7 13340318 13412371 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545387 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 dgv7200n71 7 13355193 13433727 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv887677,nsv887681 M 6533 2 5 "" IS30683,IS31166,IS32653,MS10737,MS12071,MS14855,MS25751 dgv7201n71 7 13355193 13433727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887682,nsv887680,nsv887678,nsv887679 M 6533 0 4 "" MS13228,SP50120,SP57367,SP57472 nsv887683 7 13366285 13458865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553075 S 6533 0 1 "" MS19721 nsv512908 7 13376000 13377077 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625554 S 1 1 0 "" 1 nsv887684 7 13386966 13443231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538153 S 6533 0 1 "" MS13498 dgv7202n71 7 13396229 13433727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887686,nsv887685 M 6533 0 5 "" IS31758,IS36170,IS40067,MS22104,SP52694 nsv821652 7 13405467 14521413 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421196,nssv1421195 M 31 0 2 DGKB,ETV1 dgv7203n71 7 13411521 13458865 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887688,nsv887687 M 6533 0 2 "" IS30432,IS35742 nsv887689 7 13425589 13510254 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562766 S 6533 0 1 "" MS25734 nsv8050 7 13552042 13558402 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15483 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv887690 7 13557722 13668694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546154 S 6533 0 1 "" MS17114 esv1744988 7 13581983 13582055 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760866 S 2 0 1 "" HuRef esv271021 7 13594960 13595446 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508501,essv2497159,essv2508679,essv2511676 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12717,NA18552,NA18592,NA18940 dgv407n21 7 13608199 13649605 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522998,nsv520006 M 2026 0 2 "" nsv887691 7 13608199 13652259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566375 S 6533 0 1 "" IS30669 nsv887692 7 13608199 13685494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558990 S 6533 0 1 "" MS23670 nsv8051 7 13611322 13614997 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14702 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 nsv824015 7 13611921 13612679 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425830 S 31 1 0 "" AK4 esv274298 7 13615706 13615812 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580136,essv2579999 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv267961 7 13615718 13615807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546601,essv2556492,essv2545377,essv2523172,essv2577585,essv2548240,essv2521865,essv2535309,essv2564405,essv2577898,essv2537316,essv2547056,essv2524690,essv2548825,essv2558009 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA10851,NA11881,NA11994,NA12003,NA12004,NA12043,NA12045,NA12144,NA12249,NA12751,NA12761,NA12878,NA12892,NA18555 esv2035633 7 13629528 13630180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651117 S 1 0 1 "" NA18507 esv3818 7 13629684 13630038 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26259 S 1 0 1 Single Asian sample YH "" YH nsv365477 7 13629715 13629980 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384055 M 24 "" esv988804 7 13629716 13629981 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574058 S 3 0 1 "" HuRef esv7567 7 13629717 13630025 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30008 S 1 0 1 "" SJK esv1539589 7 13629718 13629984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138442 S 2 0 1 "" HuRef dgv7204n71 7 13640063 13685494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887694,nsv887693 M 6533 0 2 "" MS11467,MS15749 esv2260803 7 13643314 13643749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934030 S 1 0 1 "" NA18507 esv994371 7 13643447 13643526 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566462 S 3 0 1 "" HuRef nsv830909 7 13658854 13834819 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445923 S 95 1 0 "" nsv887695 7 13671476 13786493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578368 S 6533 1 0 "" IS34762 nsv517571 7 13698422 13700810 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652409,nssv705162,nssv682612,nssv686964,nssv690331,nssv680781,nssv652789 M 2026 1 6 "" nsv464387 7 13700055 13708851 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540310 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00011 esv2109174 7 13709245 13709703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834738 S 1 0 1 "" NA18507 dgv408n21 7 13711089 13727929 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521886,nsv519178 M 2026 0 2 "" dgv409n21 7 13757788 13760728 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528671,nsv527080 M 2026 0 2 "" nsv887696 7 13768350 13823760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601113,nssv1601219 M 6533 0 2 "" IS41971,IS41984 nsv525915 7 13785827 13808323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702119 S 2026 1 0 "" nsv519601 7 13786493 13823760 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657010,nssv658236 M 2026 0 2 "" nsv464388 7 13794624 13835438 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540311 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00942 nsv887697 7 13808323 13865971 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583089 S 6533 1 0 "" IS36245 nsv887698 7 13808323 14022600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578369 S 6533 1 0 ETV1 IS34762 esv26538 7 13833104 13837663 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13083 S 451 0 1 "" NA18916 nsv887699 7 13835126 13865971 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567482 S 6533 1 0 "" IS31090 nsv510071 7 13836427 13842427 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624024 S 4 0 1 "" NA18994 nsv516692 7 13841647 13874352 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661355,nssv670193 M 2026 0 2 "" nsv526824 7 13860801 13878942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703180 S 2026 0 1 "" nsv887700 7 13915042 14009227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578887 S 6533 0 1 ETV1 IS34962 nsv887701 7 13921849 13954695 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512787 S 6533 1 0 ETV1 SP55624 dgv7205n71 7 13961734 13996264 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887702,nsv887704,nsv887703 M 6533 0 4 ETV1 IS31074,IS31335,MS18978,MS22104 nsv5642 7 13963060 13996912 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2754 S 9 1 0 ETV1 NA18555 esv2342122 7 14078105 14078570 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668582 S 1 0 1 "" NA18507 nsv518149 7 14080028 14084874 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695570 S 2026 1 0 "" dgv7206n71 7 14109646 14139179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887705,nsv887706 M 6533 0 3 "" MS10356,SP52830,SP57009 nsv818485 7 14111188 14114427 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417878 S 112 1 0 "" NA18852 nsv523217 7 14136077 14139179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698939 S 2026 0 1 "" nsv8052 7 14179331 14197229 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16872 S 31 0 1 Samples from several populations that are part of the HapMap project. DGKB NA18502 nsv8053 7 14216796 14219135 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15026,nssv14290,nssv15080,nssv15696,nssv15378,nssv15135,nssv14915,nssv17633 M 31 5 3 Samples from several populations that are part of the HapMap project. DGKB NA10847,NA10863,NA12802,NA18537,NA18564,NA18853,NA18972,NA19007 esv27782 7 14217213 14218690 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18719 S 451 3 1 DGKB NA11993,NA12749,NA19129,NA19225 nsv821255 7 14217213 14218690 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420643 S 1 0 1 DGKB NA10851 esv2589671 7 14217437 14217504 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329890 S 1 0 1 DGKB NA18507 esv2367407 7 14217491 14218763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730739 S 1 0 1 DGKB NA18507 nsv8054 7 14261054 14266072 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17924,nssv17663 M 31 2 0 Samples from several populations that are part of the HapMap project. DGKB NA18517,NA18972 esv270222 7 14344567 14344675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494315,essv2509665,essv2496413,essv2496183,essv2493707,essv2507195 M 157 6 0 Samples from several populations that are part of the HapMap project. DGKB NA18502,NA18508,NA18510,NA18511,NA18517,NA18870 esv274346 7 14351579 14351732 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579106 S 7 1 0 Samples from several populations that are part of the HapMap project. DGKB NA19239 esv1008785 7 14385970 14386045 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566771 S 3 0 1 DGKB HuRef esv1543610 7 14386040 14386116 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611457 S 2 0 1 DGKB HuRef esv2648403 7 14414812 14416570 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289186 S 1 0 1 DGKB NA18507 nsv511949 7 14414926 14418282 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624490 S 1 0 1 DGKB 1 esv2009841 7 14415374 14416099 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818294 S 1 0 1 DGKB NA18507 esv4153 7 14415532 14416052 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26594 S 1 0 1 Single Asian sample YH DGKB YH esv7200 7 14415551 14415893 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29641 S 1 0 1 DGKB SJK esv1770636 7 14415575 14415896 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046563 S 2 0 1 DGKB HuRef esv2372428 7 14417599 14418140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834482 S 1 0 1 DGKB NA18507 esv3711 7 14417728 14418012 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26152 S 1 0 1 Single Asian sample YH DGKB YH nsv887707 7 14438207 14542688 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541164 S 6533 0 1 DGKB MS15199 nsv887708 7 14461033 14584507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592560 S 6533 0 1 DGKB IS39243 esv1248437 7 14477509 14477509 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3844456 S 2 1 0 DGKB HuRef nsv887709 7 14529482 14571423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541434 S 6533 0 1 DGKB MS15312 nsv887710 7 14554473 14620227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568138 S 6533 0 1 DGKB IS31205 nsv518783 7 14560761 14562579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696237 S 2026 0 1 DGKB nsv887711 7 14585551 14637850 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546155 S 6533 0 1 DGKB MS17114 esv2516570 7 14641293 14641740 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310393 S 1 1 0 DGKB NA18507 esv2035361 7 14647198 14647677 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4778509 S 1 0 1 DGKB NA18507 esv1008799 7 14647390 14647469 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577675 S 3 0 1 DGKB HuRef esv1572679 7 14647415 14647495 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279218 S 2 0 1 DGKB HuRef esv2609849 7 14674522 14675620 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329832 S 1 1 0 DGKB NA18507 esv268947 7 14682322 14682659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2551850,essv2574546,essv2572730,essv2545141 M 157 4 0 Samples from several populations that are part of the HapMap project. DGKB NA18504,NA19138,NA19143,NA19172 nsv887712 7 14684397 14796383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574279 S 6533 0 1 DGKB IS33533 esv2144200 7 14694807 14695220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911782 S 1 0 1 DGKB NA18507 esv2227136 7 14725399 14725820 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730512 S 1 0 1 DGKB NA18507 esv26569 7 14796365 14798610 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19775 S 451 0 1 DGKB NA12156 esv22096 7 14803985 14807795 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9860 S 451 0 1 DGKB NA18858 esv2590385 7 14822959 14824561 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273458 S 1 0 1 DGKB NA18507 dgv7207n71 7 14854943 14908101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887714,nsv887715,nsv887713 M 6533 0 8 "" IS30590,IS31879,IS33553,IS36158,IS37446,IS37892,IS38108,MS16343 dgv2062e1 7 14863402 15266311 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv864,essv19941 M 271 0 0 AGMO NA12813 esv2605596 7 14876234 14877849 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245904 S 1 0 1 "" NA18507 esv2130304 7 14876768 14877445 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4676328 S 1 0 1 "" NA18507 nsv365967 7 14876945 14877262 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384545 M 24 "" esv8198 7 14876951 14877270 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30639 S 1 0 1 "" SJK esv1400309 7 14876959 14877277 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279046 S 2 0 1 "" HuRef esv1009043 7 14881514 14890038 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564491 S 3 0 1 "" HuRef dgv7208n71 7 14900480 14987748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887717,nsv887716 M 6533 0 2 "" IS39011,IS41113 nsv8055 7 14908824 14915089 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18240 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv1951307 7 14953516 14953928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628370 S 1 0 1 "" NA18507 nsv887718 7 14962047 15002184 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520185 S 6533 0 1 "" SP50742 dgv7209n71 7 14962047 15038554 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887720,nsv887719 M 6533 2 0 "" MS13294,MS21258 nsv517876 7 14977349 15165114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695283 S 2026 0 1 "" nsv830910 7 14977553 15178834 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445924 S 95 0 1 "" nsv887721 7 14991857 15130135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528345 S 6533 0 1 "" SP81202 nsv522499 7 15018279 15114979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705867 S 2026 0 1 "" nsv464390 7 15025797 15054124 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540312 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 nsv470110 7 15025797 15054124 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545398 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 nsv887722 7 15030780 15072049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520328 S 6533 0 1 "" SP50825 nsv8056 7 15034799 15038909 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15085 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 essv23733 7 15038385 15138799 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12813 esv34790 7 15041085 15123685 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989057,essv6988081,essv6978986 M 771 0 1 "" NA12813 nsv818486 7 15045516 15126008 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416070 S 112 0 1 "" NA12813 nsv8057 7 15053497 15061294 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16902,nssv16021,nssv17247 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132,NA19240 nsv464391 7 15054124 15088476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540313 S 1557 0 1 "" NINDS_45 nsv887723 7 15054124 15091272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556606 S 6533 0 1 "" MS22104 esv27588 7 15055771 15058655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9819 S 451 0 2 "" NA18502,NA19240 esv2422171 7 15055803 15058658 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5061292,essv5098884,essv5111711,essv5118438,essv5104066,essv5157709,essv5154344,essv5094546,essv5062238,essv5059297,essv5085849,essv5071003,essv5079011,essv5063411,essv5143897,essv5128579,essv5096647,essv5081488,essv5082052,essv5142761,essv5158783,essv5095443,essv5119139,essv5106119,essv5058974,essv5156501,essv5057597,essv5127728,essv5041110,essv5059710,essv5060489,essv5029015,essv5158653,essv5159400,essv5043409,essv5047485,essv5068890,essv5114822,essv5153478 M 1184 0 39 "" NA12813,NA12828,NA18485,NA18487,NA18497,NA18499,NA18500,NA18869,NA19093,NA19116,NA19118,NA19120,NA19121,NA19123,NA19130,NA19132,NA19143,NA19152,NA19154,NA19176,NA19182,NA19189,NA19191,NA19198,NA19199,NA19209,NA19239,NA19240,NA19308,NA19466,NA19467,NA19712,NA19834,NA19836,NA19982,NA20294,NA20295,NA20348,NA21648 nsv441839 7 15055803 15058658 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514406 7 15056145 15057952 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627860 S 1414 0 1 "" nsv523321 7 15074709 15080665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699063 S 2026 0 1 "" nsv522976 7 15074709 15284998 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698646 S 2026 1 0 AGMO nsv5644 7 15086222 15120518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv612 S 9 1 0 "" NA19240 nsv8059 7 15086263 15088726 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15056 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv470122 7 15088476 15107214 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545409 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00472 esv4743 7 15094240 15094514 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27184 S 1 0 1 Single Asian sample YH "" YH nsv510072 7 15147875 15153875 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618254,nssv621304 M 4 0 2 "" CHM,NA15510 esv274224 7 15172276 15172590 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580909 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv2302845 7 15190633 15191025 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509925 S 1 0 1 "" NA18507 esv3688 7 15190760 15191264 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26129 S 1 0 1 Single Asian sample YH "" YH esv2339646 7 15190867 15191212 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702260 S 1 0 1 "" NA18507 nsv8060 7 15195753 15203354 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14957,nssv17693,nssv15719 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18563,NA18972,NA19173 esv2190398 7 15196032 15196581 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872745 S 1 0 1 "" NA18507 esv4892 7 15196182 15196440 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27333 S 1 0 1 Single Asian sample YH "" YH dgv7210n71 7 15202917 15275110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887725,nsv887724 M 6533 0 2 AGMO IS31041,IS35771 nsv887726 7 15208731 15317802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551780 S 6533 0 1 AGMO MS18978 nsv887727 7 15284998 15363974 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544012 S 6533 1 0 AGMO MS16209 nsv366752 7 15360454 15360615 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385330 M 24 AGMO esv1002080 7 15360466 15360625 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580888 S 3 0 1 AGMO HuRef nsv517723 7 15364168 15369491 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652991,nssv688411 M 2026 0 2 AGMO nsv524952 7 15369491 15390908 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700973 S 2026 0 1 AGMO nsv437537 7 15380099 15409155 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467418 S 60 0 1 Samples from several populations that are part of the HapMap project. AGMO NA18500 esv26270 7 15380299 15384968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11458 S 451 0 2 AGMO NA18502,NA19129 nsv518175 7 15381259 15384424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695596 S 2026 0 1 AGMO nsv524706 7 15383089 15384424 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700689 S 2026 0 1 AGMO nsv887728 7 15410880 15445998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551781 S 6533 0 1 AGMO MS18978 nsv887729 7 15410880 15546603 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567958 S 6533 0 1 AGMO IS31179 esv259539 7 15429578 15429892 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394173,essv2393776,essv2393975 M 6 0 0 Samples from several populations that are part of the HapMap project. AGMO NA12878,NA19238,NA19239 dgv7211n71 7 15448636 15546603 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887730,nsv887731 M 6533 4 0 AGMO IS30301,IS33219,IS33256,IS40823 dgv410n21 7 15469838 15514475 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523674,nsv523691 M 2026 0 2 AGMO dgv7212n71 7 15476368 15546603 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887732,nsv887734 M 6533 0 2 AGMO IS34856,MS19488 nsv887733 7 15487883 15539831 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595870,nssv1568312,nssv1583784,nssv1533871 M 6533 1 3 AGMO IS31233,IS36656,IS40347,MS11312 esv1274113 7 15536437 15536437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311426 S 2 1 0 AGMO HuRef nsv523199 7 15548733 16009121 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698917 S 2026 1 0 AGMO,MEOX2 nsv527015 7 15574560 15579750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703390 S 2026 0 1 "" nsv887735 7 15592517 15664703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556607 S 6533 0 1 MEOX2 MS22104 esv27701 7 15601540 15604703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15969 S 451 0 5 "" NA07037,NA11894,NA11931,NA12006,NA18502 nsv464392 7 15608578 15621139 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540314 S 1557 0 1 MEOX2 1780862194_A nsv824016 7 15622559 15623144 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426840 S 31 0 1 MEOX2 NA18968 esv27709 7 15625112 15625603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18063 S 451 0 1 MEOX2 NA19129 esv273709 7 15632786 15633113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582063,essv2582499,essv2584230,essv2584575 M 7 4 0 Samples from several populations that are part of the HapMap project. MEOX2 NA12878,NA12891,NA19238,NA19239 nsv830911 7 15632832 15784187 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445925 S 95 1 0 MEOX2 dgv7213n71 7 15683498 15720012 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887737,nsv887736 M 6533 0 4 MEOX2 IS39944,MS10737,MS15749,MS20872 esv269502 7 15710201 15712293 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511895,essv2513557 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18907 nsv524664 7 15724354 15736064 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700633 S 2026 1 0 "" nsv527639 7 15733119 15762092 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704108 S 2026 1 0 "" esv2619458 7 15809999 15811544 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217685 S 1 0 1 "" NA18507 nsv520205 7 15930763 15942139 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697280 S 2026 0 1 "" esv34337 7 15982385 15994414 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978756,essv6986697 M 771 1 0 "" NA12234 dgv2063e1 7 15982388 15994414 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19839,esv1413 M 271 0 0 "" NA12234 nsv818487 7 15991865 15994523 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417616 S 112 1 0 "" NA12234 nsv517991 7 16009121 16070852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695404 S 2026 0 1 "" dgv411n21 7 16012319 16051544 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518740,nsv527277 M 2026 0 2 "" esv1977114 7 16084754 16085148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515349 S 1 0 1 "" NA18507 nsv511373 7 16135233 16149491 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625978 S 1 0 1 ISPD 1 nsv820033 7 16137684 16141037 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419529 S 2 0 1 ISPD AK1 nsv511950 7 16137876 16140996 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624491 S 1 0 1 ISPD 1 esv5024 7 16138262 16140679 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27465 S 1 0 1 Single Asian sample YH ISPD YH nsv366243 7 16138299 16140597 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384821 M 24 ISPD esv9042 7 16138301 16140597 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31483 S 1 0 1 ISPD SJK nsv821416 7 16138302 16140500 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420644 S 1 0 1 ISPD NA10851 dgv1092n67 7 16138302 16140847 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824018,nsv824017 M 31 0 28 ISPD AK10,AK12,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 esv24769 7 16138321 16140500 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12269 S 451 14 3 ISPD NA06985,NA11894,NA11931,NA11993,NA12239,NA12878,NA18502,NA18508,NA18858,NA18861,NA18909,NA18916,NA19114,NA19147,NA19190,NA19225,NA19240 dgv7214n71 7 16178078 16266704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887741,nsv887739,nsv887740,nsv887738 M 6533 0 4 ISPD,LOC100506025 IS31373,IS31563,IS31581,IS35181 essv6089 7 16202687 16300753 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ISPD,LOC100506025 NA18621 dgv2064e1 7 16202687 16493915 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7854,esv827,essv5307,essv4069,essv4808 M 271 0 0 ISPD,LOC100506025,SOSTDC1 NA18558,NA18563,NA18620,NA18635 esv34298 7 16218279 16290710 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988239,essv6979755,essv6979756 M 771 0 1 ISPD,LOC100506025 NA18621 nsv887742 7 16221078 16250664 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513335 S 6533 0 1 ISPD,LOC100506025 SP55747 nsv470133 7 16236157 16278581 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545420 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ISPD,LOC100506025 HGDP00719 nsv887743 7 16238146 16271342 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598842 S 6533 0 1 ISPD,LOC100506025 IS41043 esv273269 7 16271815 16272094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579024,essv2579805 M 7 2 0 Samples from several populations that are part of the HapMap project. ISPD,LOC100506025 NA19239,NA19240 dgv2065e1 7 16312664 16379150 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6207,essv7680,essv7253 M 271 0 0 ISPD NA18563,NA18620,NA18635 essv6861 7 16312664 16424999 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ISPD NA18558 dgv7215n71 7 16312738 16371834 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887744,nsv887753,nsv887750,nsv887749,nsv887745,nsv887747,nsv887752,nsv887751,nsv887748,nsv887746 M 6533 0 50 ISPD IS34770,IS41347,MS10566,MS10756,MS11703,MS16399,MS19062,MS19777,MS20957,MS23811,SP50110,SP50118,SP50753,SP50828,SP51132,SP51302,SP51352,SP52019,SP52051,SP52122,SP52172,SP52881,SP53287,SP53349,SP53426,SP53474,SP53776,SP54356,SP54620,SP54635,SP54853,SP54884,SP55024,SP55077,SP55165,SP55803,SP56003,SP56023,SP56380,SP56757,SP57105,SP57158,SP57634,SP57640,SP57717,SP58325,SP58561,SP80916,SP80968,SP81106 nsv8061 7 16315044 16371820 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14987 S 31 0 1 Samples from several populations that are part of the HapMap project. ISPD NA18563 nsv442031 7 16315368 16368639 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ISPD nsv818488 7 16316655 16367715 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417207 S 112 0 1 ISPD NA18558 nsv523384 7 16317384 16367715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699133 S 2026 0 1 ISPD dgv224e55 7 16318370 16379150 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34942,esv34248,esv34392,esv35018 M 771 0 4 ISPD NA18558,NA18563,NA18620,NA18635 nsv514407 7 16324134 16366250 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627861 S 1414 0 1 ISPD nsv508447 7 16327139 16412578 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618806 S 4 0 1 ISPD NA10860 nsv464393 7 16328903 16363877 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540315 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ISPD HGDP01308 nsv464396 7 16347891 16367715 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540317 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ISPD HGDP00976 nsv5645 7 16365217 16399117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8343 S 9 1 0 ISPD NA12156 nsv523408 7 16380006 16404882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699159 S 2026 0 1 ISPD nsv517363 7 16404335 16408390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670989,nssv693445,nssv670973,nssv685215,nssv693585,nssv658393,nssv661088,nssv663686,nssv683477,nssv660139,nssv669984,nssv682970,nssv685498,nssv688234,nssv674693,nssv668864,nssv680725,nssv656850,nssv670017,nssv688093,nssv669165,nssv662954,nssv692695,nssv665883,nssv662723,nssv679511,nssv683657,nssv660220,nssv658482,nssv688674,nssv654509,nssv672195,nssv666530,nssv684606,nssv669817,nssv658339,nssv651895,nssv674183,nssv673727,nssv657011,nssv652263,nssv690139,nssv661618,nssv686770,nssv669585,nssv665027,nssv672777,nssv678608,nssv687419,nssv675372,nssv668690,nssv670495,nssv676091,nssv692859,nssv682247,nssv684375,nssv659441,nssv654974,nssv692270,nssv679308,nssv681236,nssv683248,nssv665139,nssv682613,nssv653875,nssv669631,nssv670082,nssv661287,nssv686692,nssv665569,nssv660699,nssv669944,nssv664118,nssv664293,nssv681844,nssv660190,nssv671407,nssv663744,nssv693883,nssv655126,nssv682894,nssv660068,nssv684893,nssv670867,nssv685318,nssv656220,nssv657088,nssv671881,nssv658728,nssv677035 M 2026 0 90 ISPD esv7133 7 16472263 16472357 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29574 S 1 1 0 "" SJK dgv7216n71 7 16475611 16508889 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887755,nsv887754 M 6533 2 0 "" MS20860,MS24248 nsv887756 7 16486718 16532916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582607,nssv1564578 M 6533 0 2 "" IS30243,IS36050 nsv887757 7 16535054 16582015 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554204,nssv1548140,nssv1560459 M 6533 3 0 LOC100506049 MS17703,MS20655,MS24487 nsv520493 7 16548415 16550995 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697453 S 2026 0 1 LOC100506049 nsv830912 7 16589721 16758499 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445926 S 95 1 0 ANKMY2,BZW2 nsv887758 7 16599086 16634559 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536858 S 6533 1 0 ANKMY2 MS12986 nsv522819 7 16606140 16621912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698467 S 2026 0 1 ANKMY2 nsv887759 7 16609520 16653465 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522907 S 6533 1 0 ANKMY2,BZW2 SP53503 esv2174786 7 16633829 16634190 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567409 S 1 0 1 ANKMY2 NA18507 nsv437016 7 16664792 16670716 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466897 S 60 0 1 Samples from several populations that are part of the HapMap project. BZW2 NA12801 nsv517565 7 16666635 16667323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654553,nssv652374,nssv674208,nssv666683,nssv690707,nssv658394,nssv677708 M 2026 0 7 BZW2 esv25168 7 16666668 16668777 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12652 S 451 0 1 BZW2 NA07045 nsv887760 7 16681499 16742782 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561697 S 6533 1 0 BZW2 MS25190 esv2650841 7 16713787 16714689 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258975 S 1 1 0 "" NA18507 nsv824019 7 16761014 16767114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431387 S 31 0 1 TSPAN13 AK18 nsv520554 7 16761639 16762089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678310,nssv672488 M 2026 0 2 TSPAN13 dgv7217n71 7 16800886 17717336 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887762,nsv887761,nsv887775,nsv887763,nsv887765,nsv887774 M 6533 7 0 AGR2,AGR3,AHR IS30221,IS31211,IS34782,IS37993,IS39745,MS16477,MS22212 nsv887764 7 16806360 17185325 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585654 S 6533 1 0 AGR2,AGR3 IS37605 esv2752152 7 16830252 16912750 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989499,essv6985764 M 771 0 1 AGR3 SPC_42 esv24281 7 16842813 16845319 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17164 S 451 0 1 "" NA19225 nsv887766 7 16850461 16958090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588526 S 6533 1 0 AGR3 IS38210 nsv522109 7 16875070 16913011 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694881 S 2026 1 0 AGR3 dgv7218n71 7 16875070 16932880 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887770,nsv887771,nsv887767,nsv887769 M 6533 4 0 AGR3 SP50535,SP53426,SP56518,SP56874 nsv887768 7 16877488 16913011 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505624 S 6533 1 0 AGR3 SP53724 nsv464398 7 16882053 17381309 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540318 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AGR3,AHR HGDP01376 nsv522500 7 16887859 16888774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705868 S 2026 0 1 AGR3 nsv526959 7 16888774 16888891 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703331 S 2026 0 1 "" nsv887772 7 16899451 16955987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556930 S 6533 1 0 "" MS22273 esv2449267 7 16902491 16904122 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236348 S 1 0 1 "" NA18507 esv2059084 7 16902643 16903329 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802329 S 1 0 1 "" NA18507 esv6082 7 16902808 16903157 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28523 S 1 0 1 "" SJK esv1283737 7 16902826 16903165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709271 S 2 0 1 "" HuRef dgv7219n71 7 16913011 17127137 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887776,nsv887773 M 6533 2 0 "" IS38210,MS24752 esv2568613 7 16938302 16939758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350286 S 1 0 1 "" NA18507 dgv2066e1 7 16976578 17498004 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv852,essv1413 M 271 0 0 AHR NA19007 dgv2067e1 7 17049419 17071625 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2940,essv2117 M 271 0 0 "" NA18959,NA18972 nsv464399 7 17052464 17722109 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540319 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AHR HGDP01240 dgv7220n71 7 17056468 17717336 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887783,nsv887784,nsv887778,nsv887790,nsv887782,nsv887780,nsv887791,nsv887785,nsv887777,nsv887781 M 6533 13 0 AHR IS37605,IS38210,MS22273,MS24752,SP50554,SP50942,SP52058,SP54604,SP54913,SP55195,SP55494,SP58310,SP80948 nsv8062 7 17056548 17064316 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17723 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv442032 7 17060351 17062851 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8063 7 17064316 17068011 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16029 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12740 nsv8064 7 17079470 17410568 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15086 S 31 1 0 Samples from several populations that are part of the HapMap project. AHR NA19007 essv2917 7 17096327 17411858 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. AHR NA19007 esv34717 7 17098460 17397285 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978366,essv6978367,essv6978368,essv6978369,essv6978370 M 771 1 0 AHR NA19007 nsv528987 7 17100039 17138263 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705687 S 2026 0 1 "" nsv887779 7 17127137 17186413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588527 S 6533 1 0 "" IS38210 nsv522330 7 17138263 17152638 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695110 S 2026 1 0 "" nsv5646 7 17156289 17188809 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10536 S 9 1 0 "" NA18956 dgv7221n71 7 17166545 17240274 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887788,nsv887786 M 6533 0 2 "" IS39088,SP51469 nsv887787 7 17174258 17212613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552282 S 6533 0 1 "" MS19321 nsv516567 7 17185325 17186413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679100,nssv670573,nssv669350,nssv676396,nssv672957,nssv669224,nssv689637,nssv656132,nssv673693,nssv670151,nssv684943,nssv676600,nssv693118,nssv680252,nssv659257 M 2026 0 15 "" nsv887789 7 17192964 17262597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599799 S 6533 0 1 "" IS41791 esv2422294 7 17207480 17458368 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161316 S 181 1 0 AHR ND04531 nsv887792 7 17245819 17324398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569268 S 6533 0 1 AHR IS31554 esv32689 7 17292628 17292830 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95770,essv99176,essv99514,essv96364 M 51 4 0 "" 21911,22275,22335,22371 nsv887793 7 17347187 17438151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598281 S 6533 0 1 AHR IS41317 dgv806n27 7 17366383 17596076 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464401,nsv464400 M 1557 2 0 "" 1782681286_A,NINDS_165 nsv515531 7 17366383 17596076 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661455,nssv693246,nssv688497,nssv668707,nssv663839,nssv660422,nssv688248 M 2026 2 5 "" dgv7222n71 7 17367552 17442132 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887796,nsv887794,nsv887795 M 6533 6 0 "" IS38280,MS15871,MS21236,SP50623,SP52685,SP55064 dgv7223n71 7 17388128 17439202 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887797,nsv887798 M 6533 3 0 "" SP55511,SP56457,SP56987 nsv887799 7 17409204 17439202 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507805 S 6533 1 0 "" SP54561 esv274015 7 17418070 17418364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582222,essv2583047 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv887800 7 17447836 17549131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551382,nssv1548203,nssv1563099 M 6533 0 3 "" MS17739,MS18848,MS25864 essv5687 7 17466369 17491164 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18605 nsv887801 7 17489028 17532923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554924 S 6533 0 1 "" MS21100 nsv464402 7 17491609 17529807 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540322 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01273 nsv470144 7 17491609 17529807 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545431 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01273 nsv887802 7 17507329 17539450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565803 S 6533 0 1 "" IS30522 nsv887803 7 17507329 17616729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590822 S 6533 0 1 "" IS38592 nsv887804 7 17537665 17851993 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520917 S 6533 1 0 SNX13 SP51300 esv268559 7 17554535 17554641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499881,essv2511369,essv2494463 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18562,NA18570,NA18572 dgv7224n71 7 17601159 17647545 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887806,nsv887805 M 6533 0 2 "" SP52432,SP58265 nsv824021 7 17603628 17641895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427549 S 31 0 1 "" AK8 esv267689 7 17638601 17638686 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514775 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 esv270409 7 17667428 17670589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515916 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv887807 7 17687006 17717336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532312 S 6533 0 1 "" MS10756 nsv5647 7 17688630 17723406 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3505 S 9 1 0 "" NA12878 esv27402 7 17780194 17781249 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12823 S 451 0 1 "" NA12239 esv23642 7 17811012 17811944 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14959 S 451 0 2 SNX13 NA11931,NA12287 nsv830913 7 17815005 18000743 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445929,nssv1445927,nssv1445930 M 95 1 2 SNX13 esv996210 7 17824985 17825500 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587200 S 3 1 0 SNX13 HuRef nsv887808 7 17887138 18116530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514907 S 6533 1 0 HDAC9,PRPS1L1,SNX13 SP56094 esv2463128 7 17919931 17920332 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374761 S 1 0 1 SNX13 NA18507 esv1984816 7 17936066 17936465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620132 S 1 0 1 SNX13 NA18507 esv993770 7 17936221 17936290 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574289 S 3 0 1 SNX13 HuRef nsv365749 7 17936226 17936291 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384327 M 24 SNX13 esv1768375 7 17989466 17989466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185998 S 2 1 0 "" HuRef dgv412n21 7 18045616 18062346 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525410,nsv519608 M 2026 0 2 "" nsv887809 7 18055831 18116530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588818 S 6533 0 1 HDAC9 IS38254 nsv818490 7 18059883 18060812 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418465 S 112 0 1 "" NA19193 nsv366882 7 18111232 18111474 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385460 M 24 HDAC9 esv999263 7 18111262 18111401 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575591 S 3 0 1 HDAC9 HuRef nsv887810 7 18160114 18358082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514908 S 6533 1 0 HDAC9 SP56094 nsv830914 7 18163255 18342572 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445931 S 95 1 0 HDAC9 esv2476785 7 18216084 18217544 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388916 S 1 0 1 HDAC9 NA18507 nsv830916 7 18220824 18399874 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445932 S 95 1 0 HDAC9 esv270583 7 18239585 18239915 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571593,essv2546447,essv2526165,essv2576824,essv2555102,essv2530895,essv2544669,essv2538182,essv2542686,essv2561073,essv2559915,essv2567912,essv2541740,essv2570334,essv2563798,essv2572603,essv2559248,essv2578499,essv2573195,essv2555461,essv2573808,essv2527422,essv2534405,essv2577135,essv2525696,essv2526768,essv2536194 M 157 27 0 Samples from several populations that are part of the HapMap project. HDAC9 NA06986,NA11840,NA11881,NA11918,NA12154,NA12872,NA12873,NA18526,NA18547,NA18550,NA18562,NA18570,NA18577,NA18592,NA18593,NA18603,NA18609,NA18638,NA18940,NA18942,NA18943,NA18951,NA18952,NA18959,NA18970,NA18980,NA19005 nsv887811 7 18262315 18312755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547283 S 6533 0 1 HDAC9 MS17285 esv271208 7 18289106 18289406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575984,essv2540779,essv2542216,essv2568261,essv2550601,essv2547581,essv2529102,essv2564699,essv2578105,essv2532253,essv2569529,essv2537101,essv2561328,essv2544642,essv2523704,essv2552856,essv2541454,essv2524591,essv2564947,essv2561243,essv2519773,essv2532662,essv2567640,essv2535860,essv2569030,essv2543628,essv2556409,essv2527934,essv2534097,essv2533666,essv2557661,essv2522420,essv2575379,essv2575260,essv2538483,essv2524171,essv2560815,essv2549605,essv2537801,essv2554502,essv2525121,essv2563224,essv2557897 M 157 43 0 Samples from several populations that are part of the HapMap project. HDAC9 NA07000,NA07346,NA07357,NA10847,NA10851,NA11830,NA11831,NA11919,NA11995,NA12155,NA12717,NA12749,NA12751,NA12761,NA18505,NA18508,NA18517,NA18523,NA18526,NA18537,NA18542,NA18545,NA18555,NA18558,NA18562,NA18566,NA18576,NA18582,NA18608,NA18861,NA18870,NA18871,NA18907,NA18916,NA18944,NA18953,NA18960,NA19099,NA19102,NA19108,NA19129,NA19137,NA19225 esv32771 7 18299973 18304201 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99729 S 51 1 0 HDAC9 22217 esv272796 7 18311801 18312070 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580998,essv2579537 M 7 2 0 Samples from several populations that are part of the HapMap project. HDAC9 NA19238,NA19240 esv269171 7 18311821 18312112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530468,essv2552729,essv2551935,essv2550001,essv2558886,essv2527203,essv2551080,essv2556216,essv2562347,essv2533917,essv2575587,essv2526646,essv2560663,essv2524257,essv2574545,essv2572661,essv2560251,essv2548092,essv2571207,essv2574272,essv2551612,essv2548796,essv2554401 M 157 23 0 Samples from several populations that are part of the HapMap project. HDAC9 NA07037,NA07346,NA18486,NA18502,NA18504,NA18511,NA18516,NA18522,NA18858,NA18871,NA18909,NA18916,NA19099,NA19114,NA19116,NA19129,NA19138,NA19143,NA19190,NA19210,NA19238,NA19240,NA19257 esv2442723 7 18318539 18319901 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251452 S 1 0 1 HDAC9 NA18507 nsv887812 7 18515244 18588893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552081 S 6533 0 1 HDAC9 MS19161 esv2582410 7 18515836 18517209 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307401 S 1 0 1 HDAC9 NA18507 nsv5648 7 18548905 18582444 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3506 S 9 1 0 HDAC9 NA12878 nsv516893 7 18567890 18581044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679032,nssv654738 M 2026 0 2 HDAC9 nsv830917 7 18578961 18784237 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445933 S 95 1 0 HDAC9 esv270803 7 18668499 18668818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2531760,essv2520315,essv2576348,essv2543761,essv2556396 M 157 5 0 Samples from several populations that are part of the HapMap project. HDAC9 NA12006,NA12716,NA12814,NA18870,NA18871 esv29862 7 18668951 18669782 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14921 S 451 0 1 HDAC9 NA19108 nsv887813 7 18686660 18962077 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583299 S 6533 1 0 HDAC9 IS36411 nsv887814 7 18718523 18852702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600043 S 6533 0 1 HDAC9 IS41832 dgv2068e1 7 18734239 18767865 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1342,essv1538 M 271 0 0 HDAC9 NA19012 nsv8065 7 18819814 18823666 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16051 S 31 0 1 Samples from several populations that are part of the HapMap project. HDAC9 NA19240 nsv528759 7 18848034 18848728 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705421 S 2026 0 1 HDAC9 nsv523497 7 18862536 18925906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699266 S 2026 0 1 HDAC9 dgv7225n71 7 18897744 18925663 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887815,nsv887816 M 6533 0 2 HDAC9 IS31145,IS31554 nsv523468 7 18902292 18905725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699227 S 2026 0 1 HDAC9 nsv887817 7 18988117 19066601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583300 S 6533 1 0 HDAC9 IS36411 esv2198473 7 19063046 19063488 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828594 S 1 0 1 "" NA18507 nsv519024 7 19070451 19100644 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696493 S 2026 0 1 "" esv260003 7 19104524 19104812 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396625,essv2398935,essv2397516,essv2400813 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18603,NA18947,NA18952 nsv441853 7 19145257 19147225 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv887818 7 19159597 19206909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594749 S 6533 0 1 "" IS40012 nsv887819 7 19228616 19624914 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572601 S 6533 1 0 "" IS33150 nsv521853 7 19293613 19326307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694627 S 2026 1 0 "" esv1158073 7 19314102 19314102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221524 S 2 1 0 "" HuRef esv989487 7 19314109 19314174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580329 S 3 0 1 "" HuRef esv1036282 7 19314166 19314232 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030159 S 2 0 1 "" HuRef dgv7226n71 7 19345484 19415254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887821,nsv887820 M 6533 0 2 "" IS33533,IS41113 dgv2069e1 7 19362671 19587487 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23270,essv22574,essv21628,essv20149,esv767 M 271 0 0 "" NA07345,NA07348 nsv442033 7 19379124 19511836 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818491 7 19379796 19514474 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418002,nssv1418003 M 112 2 0 "" NA07345,NA07348 esv34500 7 19382068 19540288 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990472,essv6980356,essv6980357,essv6980358,essv6987061 M 771 1 0 "" NA07345 nsv470155 7 19388131 19419174 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545442 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 nsv523813 7 19400327 19402471 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699643 S 2026 1 0 "" nsv470166 7 19419174 19448786 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545453 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00640 nsv464403 7 19419174 19483017 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540323 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00640 nsv517176 7 19430552 19434783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666468,nssv672118,nssv667329,nssv653931 M 2026 0 4 "" nsv510955 7 19446566 19531668 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621596,nssv624313 M 4 0 0 "" NA15510,NA18994 dgv7227n71 7 19448786 19532811 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887822,nsv887823 M 6533 0 3 "" IS30171,MS11858,MS18742 nsv510073 7 19462275 19468275 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618255,nssv622132 M 4 0 2 "" CHM,NA10860 esv2752153 7 19475527 19587176 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985715,essv6990128,essv6990129,essv6985714 M 771 0 1 "" SPC_36 nsv5649 7 19476764 19487171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3507 S 9 1 0 "" NA12878 esv1007126 7 19484285 19484936 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565563 S 3 1 0 "" HuRef nsv509192 7 19484533 19531668 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619479 S 4 1 0 "" NA10860 nsv887824 7 19491388 19654304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576554 S 6533 0 1 "" IS34124 nsv8066 7 19500289 19505487 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15526 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18552 nsv887825 7 19503502 19582517 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569121 S 6533 1 0 "" IS31419 nsv8067 7 19514729 19516682 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15514 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 nsv824022 7 19542698 19543846 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429139 S 31 0 1 "" AK12 esv27535 7 19580482 19594663 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11072,esv21425 M 451 0 9 "" NA12006,NA12287,NA12749,NA18502,NA18508,NA18858,NA18861,NA18909,NA19190 nsv8068 7 19585371 19648946 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17277,nssv16081,nssv15749,nssv15544,nssv17301 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA10839,NA18860,NA19132,NA19173,NA19240 nsv820843 7 19593706 19594663 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420645 S 1 1 0 "" NA10851 esv274895 7 19644060 19648673 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585166,essv2586009 M 1250 1 1 "" nsv519113 7 19673497 19683016 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696589 S 2026 0 1 "" nsv524807 7 19680681 19770450 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700799 S 2026 1 0 MIR3146,TMEM196,TWISTNB nsv830918 7 19714199 19881052 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445934 S 95 0 1 TMEM196,TWISTNB nsv887826 7 19782765 20000424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502092 S 6533 0 1 "" SP50877 esv988208 7 19820178 19820181 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577117 S 3 1 0 "" HuRef nsv519430 7 19821959 19828746 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691319,nssv656176 M 2026 0 2 "" dgv7228n71 7 19823003 19926351 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887829,nsv887828,nsv887827 M 6533 0 3 "" IS31094,IS35180,SP55878 esv4925 7 19831719 19832067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27366 S 1 0 1 Single Asian sample YH "" YH nsv527500 7 19833502 19839724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703950 S 2026 0 1 "" nsv887830 7 19937109 20081114 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579578 S 6533 0 1 "" IS35140 nsv830919 7 20049424 20220381 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445935 S 95 0 1 MACC1 nsv527794 7 20049519 20094086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704286 S 2026 0 1 "" nsv522363 7 20052520 20055513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695143 S 2026 0 1 "" dgv413n21 7 20070749 20071433 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525144,nsv527559 M 2026 0 2 "" nsv887831 7 20087338 20119326 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590679 S 6533 1 0 "" IS38552 nsv887832 7 20106813 20149473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558360 S 6533 0 1 MACC1 MS23237 nsv520265 7 20189670 20192272 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681385,nssv662258,nssv689791,nssv683352 M 2026 0 4 MACC1 nsv5650 7 20218599 20251928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3508 S 9 1 0 MACC1 NA12878 nsv887833 7 20223350 20275903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536771 S 6533 0 1 MACC1 MS12947 nsv464404 7 20233295 20266941 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540324 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00664 nsv887834 7 20246854 20359581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550971 S 6533 1 0 ITGB8 MS18694 nsv887835 7 20248728 20294212 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562500 S 6533 0 1 "" MS25617 nsv824023 7 20252356 20288791 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441133 S 31 0 1 "" NA18969 esv2519131 7 20283311 20286917 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169480 S 1 0 1 "" NA18507 nsv507376 7 20314939 20320939 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621869,nssv622998,nssv620367,nssv617731 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 dgv230n6 7 20385443 20386813 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv365323,nsv365333 M 24 ITGB8 nsv523878 7 20405878 20406990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699720 S 2026 0 1 ITGB8 nsv365438 7 20408276 20410776 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384016 M 24 ITGB8 dgv231n6 7 20415924 20416023 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv365352,nsv365649 M 24 ITGB8 nsv519501 7 20436800 20442719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696887 S 2026 0 1 "" nsv887836 7 20444973 20517504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522903 S 6533 0 1 "" SP53503 nsv522999 7 20679020 20689617 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698671 S 2026 0 1 ABCB5 esv2306944 7 20687011 20687361 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4730152 S 1 0 1 ABCB5 NA18507 esv2551418 7 20697234 20698790 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163582 S 1 0 1 ABCB5 NA18507 nsv522599 7 20711088 20713600 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705990 S 2026 0 1 ABCB5 nsv511370 7 20711088 20720627 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625974 S 1 0 1 ABCB5 1 nsv5651 7 20712601 20729067 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10537 S 9 0 1 ABCB5 NA18956 nsv517268 7 20713600 20717374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662668,nssv664418,nssv694045,nssv658729,nssv688648,nssv654789,nssv679147,nssv670812,nssv652376,nssv655574,nssv669225,nssv667188,nssv651999,nssv672939,nssv678831,nssv652947,nssv662286,nssv663931,nssv690708,nssv676968,nssv682471,nssv677858,nssv675976,nssv655102,nssv690904,nssv660700,nssv658662,nssv693556,nssv666059,nssv688114,nssv681790,nssv654168,nssv665324,nssv690418,nssv688412,nssv671973,nssv652035,nssv691719,nssv675955,nssv672669,nssv659544,nssv677004,nssv670108,nssv651958,nssv687486,nssv655342,nssv671758 M 2026 0 47 ABCB5 esv1003420 7 20714184 20720747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565390 S 3 0 1 ABCB5 HuRef esv2654247 7 20714788 20720823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286523 S 1 0 1 ABCB5 NA18507 nsv511951 7 20715056 20720624 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624492 S 1 0 1 ABCB5 1 esv2340535 7 20715129 20720306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622042 S 1 0 1 ABCB5 NA18507 nsv514408 7 20715292 20720060 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627862 S 1414 0 1 ABCB5 nsv499219 7 20715309 20720105 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586016 S 9 0 1 ABCB5 esv29258 7 20715360 20720071 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18361 S 451 0 6 ABCB5 NA06985,NA12414,NA15510,NA19099,NA19190,NA19225 esv2474858 7 20715406 20720517 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162571 S 1 0 1 ABCB5 NA18507 nsv524866 7 20715815 20721007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700871 S 2026 0 1 ABCB5 nsv887837 7 20728349 20740092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534637 S 6533 0 1 ABCB5 MS11703 nsv824024 7 20776091 20810659 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428358 S 31 1 0 SP8 AK10 nsv5652 7 20794143 20827642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4971 S 9 1 0 "" NA19129 nsv887838 7 20828827 20983208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578083 S 6533 0 1 RPL23P8 IS34658 nsv830920 7 20981060 21168105 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445936 S 95 1 0 "" nsv365441 7 21034478 21035626 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384019 M 24 "" nsv464407 7 21088622 21128551 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540326 S 1557 0 1 "" 1780862082_A nsv525386 7 21110523 21111400 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701508 S 2026 1 0 "" nsv518461 7 21110523 21114203 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695898 S 2026 1 0 "" esv2130514 7 21216244 21216698 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864188 S 1 0 1 "" NA18507 esv270153 7 21286068 21286227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496306,essv2498645,essv2495580,essv2503101,essv2497892,essv2503459,essv2512349,essv2506682 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18858,NA18916,NA18943,NA18945,NA18947,NA18949,NA19108 nsv5653 7 21346059 21380959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv613 S 9 1 0 "" NA19240 esv272152 7 21356374 21358077 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511786,essv2507108,essv2509480,essv2496948,essv2511931,essv2498086 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18870,NA19129,NA19190,NA19238,NA19240 esv273259 7 21356378 21358018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580580,essv2579409 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv516499 7 21394143 21398334 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668691,nssv655944 M 2026 2 0 "" nsv522356 7 21394143 21405716 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695136 S 2026 1 0 "" esv5934 7 21416843 21417501 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28375 S 1 0 1 "" SJK nsv830921 7 21455625 21654541 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445953,nssv1445951,nssv1445952,nssv1445955,nssv1445954,nssv1445957,nssv1445956,nssv1445948,nssv1445949,nssv1445941,nssv1445938,nssv1445940,nssv1445958,nssv1445943,nssv1445942,nssv1445947,nssv1445945,nssv1445946,nssv1445944,nssv1445937 M 95 20 0 DNAH11,SP4 nsv524775 7 21468509 21470952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700766 S 2026 0 1 SP4 esv5289 7 21554201 21554493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27730 S 1 0 1 Single Asian sample YH DNAH11 YH esv274625 7 21591053 21591197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579149 S 7 1 0 Samples from several populations that are part of the HapMap project. DNAH11 NA19239 esv269405 7 21591070 21591228 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496379,essv2496232,essv2494972,essv2508981,essv2501429,essv2499157,essv2501859,essv2502054 M 157 8 0 Samples from several populations that are part of the HapMap project. DNAH11 NA18510,NA18511,NA18520,NA18522,NA19093,NA19114,NA19239,NA19257 esv272580 7 21646611 21646927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580897,essv2579488 M 7 2 0 Samples from several populations that are part of the HapMap project. DNAH11 NA19238,NA19240 esv270492 7 21646632 21646930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552532,essv2569397,essv2558850,essv2527091,essv2542159,essv2550895,essv2543569,essv2528133,essv2534123,essv2575628,essv2572841,essv2568658,essv2571371,essv2574490 M 157 14 0 Samples from several populations that are part of the HapMap project. DNAH11 NA18502,NA18508,NA18516,NA18522,NA18856,NA18858,NA18870,NA18907,NA18916,NA19099,NA19143,NA19147,NA19238,NA19240 nsv5655 7 21694994 21739728 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8344 S 9 0 1 DNAH11 NA12156 esv24789 7 21730470 21736172 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14248 S 451 1 0 DNAH11 NA18511 esv1358263 7 21730912 21730912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224693 S 2 1 0 DNAH11 HuRef nsv830922 7 21759911 21931200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445959 S 95 0 1 CDCA7L,DNAH11 nsv470177 7 21767650 21783573 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545464 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DNAH11 HGDP01050 nsv5656 7 21776922 21783197 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8345 S 9 0 1 DNAH11 NA12156 esv28945 7 21796739 21797241 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14916 S 451 0 1 DNAH11 NA18508 nsv366567 7 21803431 21803721 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385145 M 24 DNAH11 nsv437538 7 21819061 21822676 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467419 S 60 0 1 Samples from several populations that are part of the HapMap project. DNAH11 NA19100 nsv520409 7 21826841 21827553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697399 S 2026 0 1 DNAH11 nsv7393 7 21849270 27816504 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6117 S 9 0 0 C7orf30,C7orf31,C7orf46,C7orf71,CBX3,CCDC126,CDCA7L,CLK2P,CYCS,DFNA5,DNAH11,EVX1,FAM126A,GPNMB,HIBADH,HNRNPA2B1,HOTAIRM1,HOTTIP,HOXA1,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,IGF2BP3,IL6,KIAA0087,KLHL7,LOC100133311,LOC100506178,LOC441204,MIR148A,MIR196B,MPP6,NFE2L3,NPVF,NPY,NUPL2,OSBPL3,RAPGEF5,RPS2P32,SKAP2,SNORD93,SNX10,STEAP1B,STK31,TAX1BP1,TOMM7,TRA2A NA12156 nsv5657 7 21861801 21894539 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv614 S 9 1 0 DNAH11 NA19240 nsv524106 7 21864239 21865857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699982 S 2026 0 1 DNAH11 esv1004482 7 21906580 21906580 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567538 S 3 1 0 DNAH11 HuRef esv1623310 7 21906581 21906581 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3777547 S 2 1 0 DNAH11 HuRef esv275068 7 21932632 21947298 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585372 S 1250 0 1 CDCA7L esv2333221 7 22169079 22169585 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629145 S 1 0 1 RAPGEF5 NA18507 esv4118 7 22169195 22169480 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26559 S 1 0 1 Single Asian sample YH RAPGEF5 YH esv1239094 7 22169291 22169399 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988834 S 2 0 1 RAPGEF5 HuRef nsv365300 7 22169302 22169408 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383878 M 24 RAPGEF5 nsv830923 7 22283366 22461498 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445960 S 95 1 0 RAPGEF5,STEAP1B nsv821375 7 22401248 22403322 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420646 S 1 0 1 "" NA10851 nsv824025 7 22401248 22403322 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439737,nssv1438223,nssv1435164,nssv1441134,nssv1433419,nssv1434482,nssv1426863,nssv1435930,nssv1440421,nssv1430649,nssv1422671,nssv1425832,nssv1423475,nssv1424279,nssv1440618,nssv1431388,nssv1433722,nssv1425050,nssv1428359,nssv1437495,nssv1421773,nssv1438905,nssv1426753,nssv1427550,nssv1436709 M 31 0 25 "" AK10,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 esv2770 7 22401273 22403395 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25211 S 1 0 1 Single Asian sample YH "" YH esv7489 7 22401326 22403298 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29930 S 1 0 1 "" SJK esv26097 7 22401347 22403248 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21214 S 451 26 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18916,NA19099,NA19108,NA19147 esv2590646 7 22438914 22440418 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231842 S 1 0 1 STEAP1B NA18507 esv1928956 7 22439351 22439780 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945334 S 1 0 1 STEAP1B NA18507 esv991050 7 22439406 22439580 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580371 S 3 0 1 STEAP1B HuRef esv1507352 7 22439524 22439703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130841 S 2 0 1 STEAP1B HuRef nsv5658 7 22476348 22497652 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8346 S 9 0 1 STEAP1B NA12156 nsv887839 7 22584863 22679402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557250 S 6533 0 1 "" MS22524 nsv5659 7 22590960 22624788 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4972 S 9 1 0 "" NA19129 nsv527614 7 22650147 22657539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704079 S 2026 0 1 "" nsv507377 7 22675207 22681207 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621870,nssv620368 M 4 2 0 "" NA10860,NA15510 esv22407 7 22710015 22715000 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11672 S 451 0 1 "" NA19108 dgv2070e1 7 22722109 22887435 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23565,esv185 M 271 0 0 IL6,SNORD93,TOMM7 NA06993 esv33541 7 22753391 22753613 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94837,essv101668,essv96063,essv99232,essv94147 M 51 0 5 "" 21791,21909,22127,22275,22394 esv32662 7 22753391 22754238 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95449 S 51 0 1 "" 21847 esv274384 7 22766305 22766550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579119,essv2579663 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv269604 7 22766315 22766650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530826,essv2557535,essv2552431,essv2562743,essv2569849,essv2561573,essv2544995,essv2563097,essv2552784,essv2541319,essv2538242,essv2542779,essv2540544,essv2524405,essv2565066,essv2534763,essv2561031,essv2519705,essv2560104,essv2522031,essv2566272,essv2532544,essv2568009,essv2528738,essv2567425,essv2541504,essv2570318,essv2563851,essv2553185,essv2535866,essv2572258,essv2559332,essv2566869,essv2539337,essv2534112,essv2573164,essv2533653,essv2555754,essv2567077,essv2530050,essv2574020,essv2527510,essv2556081,essv2534411,essv2531605,essv2573472,essv2543111,essv2573285,essv2525702,essv2526737,essv2529427,essv2568469,essv2548097,essv2549656,essv2546143,essv2574361,essv2551382,essv2537887 M 157 58 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA12873,NA18499,NA18502,NA18507,NA18520,NA18523,NA18526,NA18532,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18912,NA18916,NA18942,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18965,NA18969,NA18980,NA19005,NA19093,NA19147,NA19210,NA19225,NA19239,NA19240,NA19257 nsv526131 7 22808844 23205658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702385 S 2026 0 1 FAM126A,KLHL7,NUPL2,SNORD93,TOMM7 esv273666 7 22816279 22816625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580186,essv2580508,essv2579952,essv2578894 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv269904 7 22816374 22816562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510201,essv2511045,essv2496618,essv2495395,essv2495882,essv2508904,essv2500347,essv2502816,essv2494149,essv2504311,essv2502965,essv2509894,essv2498592,essv2505747,essv2495705,essv2504981,essv2503115,essv2497887,essv2503479,essv2512296,essv2493033,essv2495189,essv2500711,essv2505596,essv2506991,essv2506566,essv2509587,essv2499830,essv2501982 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831,NA11894,NA12287,NA12489,NA12878,NA12891,NA12892,NA18502,NA18505,NA18507,NA18508,NA18858,NA18861,NA18916,NA18942,NA18943,NA18945,NA18947,NA18949,NA18951,NA18964,NA18973,NA19005,NA19102,NA19108,NA19129,NA19225,NA19239 esv2467344 7 22819751 22820749 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220882 S 1 1 0 TOMM7 NA18507 esv269276 7 22819980 22820318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514583,essv2516705,essv2517016,essv2514858,essv2515332,essv2516452,essv2515619,essv2518036,essv2514496,essv2517809,essv2517243,essv2513933,essv2518306 M 157 13 0 Samples from several populations that are part of the HapMap project. TOMM7 NA11840,NA11881,NA11931,NA12234,NA12249,NA12814,NA12815,NA12872,NA12874,NA12878,NA18970,NA19143,NA19240 esv272529 7 22819980 22820318 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581385 S 7 1 0 Samples from several populations that are part of the HapMap project. TOMM7 NA12878 esv2607026 7 22847560 22848323 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180075 S 1 1 0 "" NA18507 esv1743116 7 22847867 22847867 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943981 S 2 1 0 "" HuRef esv273435 7 22861357 22861694 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579122 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv5660 7 22984544 23029990 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6118 S 9 0 1 FAM126A NA12156 nsv524486 7 23033669 23186760 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700424 S 2026 1 0 KLHL7 esv2032717 7 23062304 23062745 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748509 S 1 0 1 "" NA18507 esv2523438 7 23062492 23062543 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211509 S 1 0 1 "" NA18507 nsv8070 7 23097387 23112818 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17331,nssv17954 M 31 0 2 Samples from several populations that are part of the HapMap project. KLHL7 NA18517,NA18860 nsv437539 7 23103012 23114365 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467420 S 60 0 1 Samples from several populations that are part of the HapMap project. KLHL7 NA18515 esv22636 7 23106440 23110762 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20831 S 451 0 3 "" NA18517,NA18907,NA19147 nsv818492 7 23106465 23107172 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416746,nssv1416744 M 112 0 2 "" NA19160,NA19161 esv2422166 7 23106465 23110722 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079880,essv5082093,essv5119748,essv5112113,essv5114993,essv5098592,essv5099519,essv5159025,essv5093834,essv5156256,essv5137644,essv5139971,essv5123921,essv5038538,essv5027163,essv5015312,essv5055568,essv5050490,essv5048691,essv5006012,essv5020015,essv5033412,essv5092121,essv5137487,essv5064183,essv5072003,essv5043215,essv5076817,essv5027802,essv5142602,essv5088278,essv5101525,essv5042275,essv5112072,essv5137433,essv5015776,essv5003613,essv5007964,essv5123394,essv5052494,essv5159814,essv5002790,essv5025922,essv5032336,essv5009919,essv5008293 M 1184 0 46 "" NA18510,NA18515,NA18517,NA18859,NA18860,NA18862,NA18868,NA18910,NA19036,NA19108,NA19147,NA19148,NA19159,NA19160,NA19161,NA19192,NA19194,NA19206,NA19208,NA19236,NA19237,NA19309,NA19310,NA19316,NA19373,NA19394,NA19431,NA19438,NA19443,NA19455,NA19469,NA19470,NA19471,NA19625,NA19701,NA19819,NA19909,NA20294,NA20336,NA20337,NA20340,NA20346,NA21364,NA21578,NA21776,NA21784 nsv818493 7 23106465 23110722 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416451,nssv1416452,nssv1418466,nssv1416745,nssv1418467 M 112 0 5 "" NA18515,NA18517,NA19159,NA19192,NA19194 nsv516984 7 23106465 23112714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690419,nssv685827,nssv652494,nssv675456,nssv687037,nssv664997,nssv659845,nssv677005,nssv697054,nssv688917,nssv656556,nssv683631,nssv670518,nssv660281,nssv671482,nssv692953,nssv688535,nssv665541,nssv656987,nssv680402,nssv669985,nssv683966,nssv686850,nssv691560,nssv652640,nssv653066,nssv663177,nssv688235,nssv653554,nssv690466,nssv689407,nssv658730,nssv679207,nssv660916,nssv665678,nssv664242,nssv681515,nssv674916,nssv652912,nssv688077,nssv655318,nssv667100,nssv675187,nssv672274,nssv652676,nssv668160,nssv665812,nssv659581,nssv662783,nssv683632,nssv659545,nssv677881,nssv677162,nssv668569 M 2026 0 54 KLHL7 nsv514409 7 23106740 23110654 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627863 S 1414 0 1 "" nsv442034 7 23107172 23110721 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv437540 7 23110707 23124581 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467421 S 60 0 1 Samples from several populations that are part of the HapMap project. KLHL7 NA18854 esv29260 7 23153200 23158173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12586,esv17735 M 451 0 3 KLHL7 NA18505,NA18858,NA19257 nsv520080 7 23186760 23187164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689223,nssv660547 M 2026 0 2 "" nsv887840 7 23194925 23316543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595114 S 6533 0 1 C7orf30,GPNMB,IGF2BP3,NUPL2 IS40124 esv1574684 7 23237982 23238069 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591699 S 2 0 1 "" HuRef nsv520600 7 23251486 23259333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694390 S 2026 0 1 GPNMB nsv5661 7 23271405 23302321 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10538 S 9 1 0 GPNMB NA18956 nsv464408 7 23299895 23349660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540327 S 1557 0 1 C7orf30,IGF2BP3 1780854545_A nsv887841 7 23381842 23408493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519771 S 6533 1 0 IGF2BP3 SP50544 nsv366543 7 23384555 23384723 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385121 M 24 IGF2BP3 esv26021 7 23420845 23421710 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12917 S 451 0 1 IGF2BP3 NA19108 nsv509193 7 23484465 23513862 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623506,nssv619480 M 4 2 0 RPS2P32,TRA2A NA10860,NA18994 nsv887842 7 23506071 23592727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588504,nssv1598036 M 6533 2 0 CLK2P,TRA2A IS38208,IS41051 nsv887843 7 23506071 23634372 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581940 S 6533 1 0 CCDC126,CLK2P,TRA2A IS35768 nsv5662 7 23507264 23517227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8347 S 9 1 0 TRA2A NA12156 esv988020 7 23508733 23510301 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564558 S 3 1 0 "" HuRef nsv5663 7 23598659 23615396 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3509 S 9 1 0 CCDC126 NA12878 dgv2071e1 7 23686581 23846847 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24820,esv26 M 271 0 0 C7orf46,STK31 NA07000 nsv830924 7 23693658 23734931 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445964 S 95 0 1 C7orf46,STK31 nsv365951 7 23737024 23742822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384529 M 24 STK31 nsv510074 7 23775316 23781316 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618256 S 4 0 1 STK31 CHM esv7170 7 23782364 23804333 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29611 S 1 0 0 STK31 SJK esv2602899 7 23816347 23817820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340841 S 1 0 1 STK31 NA18507 esv2372085 7 23816420 23816778 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4703387 S 1 0 1 STK31 NA18507 esv1343786 7 23816648 23816729 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328665 S 2 0 1 STK31 HuRef nsv366286 7 23816649 23816729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384864 M 24 STK31 nsv887844 7 23848182 23946852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526201 S 6533 0 1 "" SP57070 esv1768232 7 23857547 23857547 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006000 S 2 1 0 "" HuRef nsv5664 7 23969124 24014455 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2638 S 9 0 1 "" NA18555 nsv830925 7 23981242 24156646 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445967,nssv1445966,nssv1445965 M 95 1 2 "" esv2421555 7 23984503 24007342 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096928,essv5090868,essv5051439,essv5057744,essv5004959,essv5074526,essv5077316,essv5089480,essv5058237,essv5055652,essv5012818,essv5014883 M 1184 0 12 "" NA21301,NA21302,NA21307,NA21311,NA21314,NA21339,NA21382,NA21383,NA21390,NA21582,NA21632,NA21722 nsv519038 7 23993150 24021536 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696507 S 2026 1 0 "" nsv511952 7 24001948 24006735 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624493 S 1 0 1 "" 1 esv3780 7 24004652 24006664 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26221 S 1 0 1 Single Asian sample YH "" YH esv6351 7 24004654 24006600 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28792 S 1 0 1 "" SJK nsv820852 7 24004667 24006584 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420648 S 1 0 1 "" NA10851 nsv824026 7 24004667 24006584 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441135,nssv1426874,nssv1433430,nssv1432940,nssv1436710,nssv1427286,nssv1426754,nssv1433723,nssv1423476 M 31 0 9 "" AK6,NA18526,NA18542,NA18592,NA18947,NA18968,NA18969,NA18972,NA18999 esv989566 7 24004688 24006596 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575139 S 3 0 1 "" HuRef nsv824027 7 24004730 24005862 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439738,nssv1422672,nssv1438224,nssv1424280,nssv1434483,nssv1429884,nssv1435931,nssv1440422,nssv1435165,nssv1429141,nssv1425053,nssv1430650,nssv1432123,nssv1431389,nssv1437497,nssv1421774,nssv1428361,nssv1438906,nssv1425833,nssv1427551 M 31 0 20 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK8,NA18537,NA18552,NA18564,NA18566,NA18570,NA18582,NA18942,NA18949,NA18951,NA18973,NA18997 esv27889 7 24004755 24006584 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13009 S 451 5 21 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12156,NA12287,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 nsv820082 7 24004759 24006304 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419280 S 2 0 1 "" AK1 nsv514410 7 24004836 24005720 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627864 S 1414 0 1 "" esv2513986 7 24034074 24035225 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205004 S 1 1 0 "" NA18507 esv259566 7 24034741 24035155 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394186,essv2393913,essv2393683,essv2393993,essv2394257 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv260017 7 24034751 24035163 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398617,essv2396742,essv2400205,essv2400021,essv2394752,essv2399092,essv2398466,essv2395271,essv2396542,essv2401123,essv2397535,essv2400889,essv2397584,essv2398105,essv2396829,essv2396791,essv2399392,essv2398673,essv2396267,essv2400756,essv2395414,essv2396707,essv2397974,essv2399608,essv2398261,essv2397284,essv2401069,essv2395085,essv2394726,essv2395247,essv2395612,essv2397642,essv2399910,essv2394979,essv2398546,essv2395017,essv2397457,essv2399321,essv2396116,essv2396627,essv2395114,essv2400368,essv2396332,essv2399894,essv2398522,essv2395527,essv2400850,essv2397432,essv2395044,essv2397872,essv2398821,essv2400435,essv2395553,essv2398978,essv2398992,essv2400158,essv2395736,essv2399472,essv2397910,essv2394404,essv2397469,essv2398176,essv2397120,essv2395127,essv2397722,essv2400393,essv2398758,essv2398350,essv2400994,essv2399278,essv2395147,essv2394823,essv2395681,essv2396455,essv2398030,essv2398711,essv2397238,essv2395980,essv2397047,essv2400465,essv2394522 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07357,NA10851,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA12044,NA12144,NA12155,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12878,NA12891,NA18486,NA18498,NA18499,NA18501,NA18502,NA18504,NA18511,NA18516,NA18519,NA18520,NA18522,NA18523,NA18526,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18853,NA18858,NA18907,NA18943,NA18947,NA18949,NA18951,NA18953,NA18956,NA18960,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 dgv414n21 7 24057755 24080089 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517796,nsv520476 M 2026 0 5 "" esv1274649 7 24083077 24083077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796196 S 2 1 0 "" HuRef esv271407 7 24086942 24087819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516764 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11881 nsv5666 7 24093679 24128257 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv615 S 9 1 0 "" NA19240 esv29711 7 24118486 24120830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17861 S 451 0 1 "" NA18505 esv267674 7 24143130 24143756 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496194,essv2494964,essv2501294,essv2498818 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18520,NA19093,NA19138 nsv522696 7 24173553 24190049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706106 S 2026 0 1 "" nsv523653 7 24173553 24190049 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699454 S 2026 1 0 "" esv992563 7 24223471 24224257 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564825 S 3 0 1 "" HuRef esv2518541 7 24223625 24225290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218723 S 1 0 1 "" NA18507 esv1959048 7 24224533 24225155 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908663 S 1 0 1 "" NA18507 nsv366355 7 24224616 24225008 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384933 M 24 "" nsv517053 7 24231038 24393080 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670496,nssv687461,nssv695539,nssv674426,nssv653693,nssv692600,nssv674069,nssv652642 M 2026 3 5 NPY esv1001287 7 24244216 24246169 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565584 S 3 1 0 "" HuRef dgv129n17 7 24262532 24288863 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437541,nsv437542 M 60 0 2 "" NA18500,NA19205 nsv8071 7 24264990 24285954 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16932 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv28942 7 24267303 24279064 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15355 S 451 0 1 "" NA18502 nsv442035 7 24268696 24279556 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv830927 7 24268790 24445001 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445968 S 95 1 0 NPY nsv514411 7 24269464 24279052 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627865 S 1414 0 1 "" esv2104887 7 24277831 24278267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743802 S 1 0 1 "" NA18507 esv2752154 7 24302484 24400835 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981787,essv6981786,essv6989262,essv6989516,essv6981788 M 771 0 1 "" BEC_468 esv21997 7 24326141 24330010 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15744 S 451 0 3 "" NA18508,NA18861,NA19190 esv267683 7 24378737 24379185 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506196,essv2498491,essv2507051,essv2493941,essv2513293,essv2509139,essv2504711,essv2498784 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18858,NA18870,NA18871,NA18907,NA18909,NA19099,NA19138 dgv415n21 7 24393080 24394742 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523814,nsv519048 M 2026 0 2 "" nsv507378 7 24433908 24439908 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622999 S 4 1 0 "" NA18994 esv267849 7 24443121 24443443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539943,essv2520993,essv2552586,essv2551918,essv2562709,essv2569421,essv2550209,essv2538989,essv2527198,essv2544689,essv2553064,essv2560027,essv2521996,essv2527951,essv2539265,essv2573939,essv2573689,essv2538658,essv2526606,essv2560540,essv2530403,essv2568703,essv2549927 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18502,NA18504,NA18507,NA18508,NA18511,NA18519,NA18522,NA18526,NA18542,NA18570,NA18571,NA18907,NA18912,NA18951,NA18964,NA19108,NA19114,NA19116,NA19141,NA19147,NA19225 esv271890 7 24546065 24546344 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494703,essv2494889,essv2507087,essv2494103,essv2513325,essv2509153 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18520,NA18870,NA18871,NA18907,NA18909 nsv526721 7 24582999 24592107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703061 S 2026 0 1 MPP6 nsv518495 7 24582999 24597770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695936 S 2026 0 1 MPP6 nsv527599 7 24597770 24714435 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704061 S 2026 1 0 DFNA5,MPP6 esv998133 7 24643711 24644773 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564734 S 3 0 1 MPP6 HuRef esv2434979 7 24643955 24645570 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171409 S 1 0 1 MPP6 NA18507 esv2168364 7 24644248 24644989 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4938269 S 1 0 1 MPP6 NA18507 esv4910 7 24644412 24644828 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27351 S 1 0 1 Single Asian sample YH MPP6 YH esv996504 7 24644450 24644772 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582135 S 3 0 1 MPP6 HuRef esv1546433 7 24644467 24644790 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3675922 S 2 0 1 MPP6 HuRef esv8712 7 24644472 24644779 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31153 S 1 0 1 MPP6 SJK nsv520276 7 24655732 25033567 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697320 S 2026 1 0 DFNA5,MPP6,OSBPL3 nsv525284 7 24735614 24735925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701388 S 2026 0 1 DFNA5 nsv507379 7 24741636 24747636 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620369 S 4 1 0 DFNA5 NA15510 nsv366672 7 24780439 24780494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385250 M 24 "" nsv5667 7 24810397 24839387 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3510 S 9 1 0 OSBPL3 NA12878 esv24690 7 24877600 24878155 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19495 S 451 0 1 OSBPL3 NA18511 esv994994 7 24910430 24913639 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564733 S 3 1 0 OSBPL3 HuRef nsv5668 7 24993982 25038119 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3512 S 9 0 1 "" NA12878 esv2483956 7 25010393 25011995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339769 S 1 0 1 "" NA18507 esv2261603 7 25010961 25011647 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531700 S 1 0 1 "" NA18507 esv2954 7 25011077 25011506 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25395 S 1 0 1 Single Asian sample YH "" YH esv7270 7 25011127 25011473 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29711 S 1 0 1 "" SJK esv1093426 7 25011138 25011467 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213672 S 2 0 1 "" HuRef esv2570922 7 25023109 25026835 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278330 S 1 0 1 "" NA18507 nsv511953 7 25023352 25026382 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624494 S 1 0 1 "" 1 dgv36e194 7 25023796 25026548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2027641,esv2125249 M 1 0 1 "" NA18507 nsv499277 7 25023969 25026396 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586017 S 9 0 1 "" nsv5669 7 25029729 25060655 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3513 S 9 1 0 "" NA12878 nsv517583 7 25062373 25067835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678780,nssv652439 M 2026 0 2 "" nsv510075 7 25165921 25171921 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618257 S 4 0 1 C7orf31 CHM nsv887845 7 25187044 25242949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591200 S 6533 0 1 NPVF IS38651 nsv524043 7 25228217 25230425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699907 S 2026 0 1 "" nsv522075 7 25230425 25231081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694846 S 2026 0 1 NPVF nsv819946 7 25234363 25234653 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419781 S 2 0 1 NPVF AK1 dgv807n27 7 25319334 25338225 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464410,nsv464409 M 1557 0 2 "" 1798860113_A,HGDP00671 esv26173 7 25327082 25329095 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12021 S 451 0 1 "" NA12287 nsv887846 7 25338225 25374146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574281 S 6533 0 1 "" IS33533 nsv464411 7 25344013 25348548 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540330 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00192 esv25754 7 25423465 25424113 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16934 S 451 0 3 "" NA12878,NA18861,NA19225 nsv887847 7 25430129 25449144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502237 S 6533 0 1 "" SP50914 esv275528 7 25522628 25527037 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586133 S 1250 0 1 "" nsv519518 7 25540064 25545471 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696896 S 2026 0 1 "" dgv416n21 7 25566383 25572645 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522815,nsv523322 M 2026 0 2 "" dgv417n21 7 25572250 25581746 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525378,nsv526019 M 2026 0 2 "" nsv527227 7 25572645 25581746 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703627 S 2026 1 0 "" esv25946 7 25607877 25608561 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18202 S 451 0 1 "" NA12156 esv1326020 7 25608358 25608358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4076015 S 2 1 0 "" HuRef esv8983 7 25630097 25630172 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31424 S 1 1 0 "" SJK nsv5670 7 25656530 25671146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8348 S 9 0 1 "" NA12156 esv2461720 7 25699735 25700979 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179689 S 1 0 1 "" NA18507 esv996633 7 25731202 25736388 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564034 S 3 0 1 "" HuRef nsv516849 7 25744122 25746840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679683,nssv654416,nssv691129,nssv692182 M 2026 0 4 "" nsv830928 7 25786672 25931539 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445969 S 95 1 0 "" nsv887848 7 25966662 26026264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556952 S 6533 0 1 "" MS22297 nsv470188 7 25980483 26041619 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545477 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 nsv464412 7 25980484 26039936 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540331 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00611 esv2020626 7 26010164 26010568 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4880455 S 1 0 1 "" NA18507 nsv887849 7 26041619 26200827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573396 S 6533 1 0 HNRNPA2B1,NFE2L3 IS33345 nsv508449 7 26083800 26127662 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617346 S 4 0 1 "" CHM nsv5671 7 26085171 26122021 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv616,nssv4973,nssv6119,nssv3514 M 9 0 4 "" NA12156,NA12878,NA19129,NA19240 esv1004770 7 26102796 26112146 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564857 S 3 0 1 "" HuRef nsv499207 7 26103517 26112050 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586018 S 9 0 1 "" nsv824028 7 26103636 26112125 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434484,nssv1423477,nssv1433441,nssv1433724,nssv1427298,nssv1440630 M 31 5 1 "" NA18526,NA18547,NA18570,NA18592,NA18947,NA18999 nsv820336 7 26103636 26112168 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420649 S 1 0 1 "" NA10851 nsv824029 7 26103636 26115624 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421776,nssv1426896,nssv1430651,nssv1439739,nssv1440423,nssv1425054,nssv1428362,nssv1438908,nssv1426755 M 31 0 9 "" AK10,AK16,AK2,AK6,NA18537,NA18564,NA18968,NA18973,NA18997 nsv819759 7 26103666 26112153 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419872 S 2 1 0 "" AK1 nsv514412 7 26103824 26111986 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627866 S 1414 0 1 "" esv26958 7 26103848 26112246 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17841 S 451 21 1 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12044,NA12414,NA12489,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18916,NA19099,NA19108,NA19257 esv2421636 7 26106838 26111938 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029900,essv5003657,essv5059501,essv5059553,essv5020489,essv5073978,essv5017135,essv5116873,essv5045114,essv5113351,essv5058608,essv5052588,essv5128725,essv5085005,essv5014922,essv5009032,essv5116756,essv5042815,essv5102856,essv5082344,essv5127152,essv5133956,essv5155537,essv5073163,essv5068878,essv5082544,essv5069865,essv5019313,essv5087807,essv5136915,essv5038728,essv5087826,essv5131223,essv5059954,essv5111406,essv5100609,essv5011901,essv5056210,essv5012133,essv5160190,essv5115482,essv5155041,essv5021852,essv5049371,essv5154617,essv5121012,essv5031041,essv5135582,essv5055899,essv5118034,essv5059105,essv5093552,essv5154687,essv5125432,essv5097446,essv5096483,essv5052481,essv5131284,essv5070196,essv5111644,essv5082893,essv5015206,essv5061631,essv5107002,essv5071507,essv5157174,essv5091767,essv5039292,essv5083324,essv5094861,essv5050584,essv5139003,essv5132526,essv5027208,essv5040086,essv5146326,essv5007540,essv5076322,essv5107085,essv5101764,essv5119326,essv5132364,essv5130862,essv5097277,essv5137383,essv5096905,essv5044717,essv5140789,essv5028261,essv5049765,essv5051442,essv5010794,essv5159768,essv5101462,essv5060069,essv5060192,essv5035837,essv5054490,essv5046540,essv5145113,essv5106671,essv5133638,essv5071420,essv5030869,essv5013689,essv5112803,essv5046022,essv5075444,essv5141676,essv5055117,essv5089490,essv5069184,essv5092584,essv5097668,essv5004236,essv5144742,essv5075839,essv5003130,essv5093380,essv5071177,essv5028584,essv5105225,essv5136378,essv5130877,essv5022536,essv5031689,essv5124811,essv5011350,essv5023483,essv5040814,essv5069557,essv5006696,essv5047920,essv5048969,essv5153380,essv5058687,essv5123459,essv5038474,essv5028681,essv5007664,essv5047111,essv5050786,essv5044569,essv5114783,essv5161190,essv5146321,essv5149236,essv5108476,essv5140283,essv5088026,essv5090855,essv5066465,essv5146161,essv5019661,essv5072345,essv5052304,essv5148604,essv5039418,essv5022138,essv5112884,essv5129986,essv5149094,essv5145571,essv5057390,essv5036103,essv5152811,essv5073719,essv5150904,essv5070879,essv5022679,essv5104271,essv5160192,essv5134945,essv5109042,essv5147036,essv5065707,essv5025832,essv5061854,essv5029039,essv5097499,essv5084463,essv5097062,essv5102789,essv5081965,essv5153150,essv5048850,essv5107343,essv5088429,essv5017391,essv5144824,essv5147850,essv5148928,essv5014426,essv5158253,essv5124966,essv5067329,essv5054825,essv5142321,essv5141221,essv5006478,essv5065587,essv5046026,essv5034307,essv5014337,essv5072129,essv5013117,essv5126860,essv5026874,essv5154806,essv5022434,essv5050763,essv5071987,essv5135586,essv5058534,essv5051566,essv5047461,essv5075601,essv5058735,essv5050928,essv5159911,essv5023704,essv5103692,essv5056015,essv5123580,essv5009149,essv5147983,essv5032390,essv5024318,essv5048430,essv5052752,essv5100479,essv5139598,essv5140388,essv5016540,essv5025565,essv5149814,essv5068866,essv5004115,essv5103624,essv5069414,essv5067326,essv5055570,essv5056260,essv5042053,essv5026673,essv5096367,essv5056176,essv5031281,essv5115631,essv5072745,essv5008618,essv5141325,essv5129639,essv5010120,essv5150742,essv5155047,essv5103912,essv5045597,essv5111650,essv5026602,essv5073747,essv5143004,essv5002303,essv5089129,essv5024751,essv5135108,essv5019882,essv5013519,essv5027206,essv5056883,essv5097625,essv5153110,essv5097066,essv5035791,essv5028563,essv5064355,essv5087432,essv5046007,essv5078730,essv5022738,essv5157143,essv5013351,essv5121863,essv5102258,essv5160525,essv5043850,essv5032920,essv5122902,essv5141174,essv5093429,essv5110105,essv5111415,essv5028554,essv5147925,essv5125367,essv5054878,essv5061010,essv5147856,essv5041486,essv5013170,essv5088932,essv5016922,essv5020936,essv5028630,essv5089780,essv5127424,essv5147873,essv5060255,essv5028580,essv5050746,essv5094909,essv5074393,essv5060639,essv5085823,essv5016500,essv5003576,essv5128474,essv5036621,essv5141553,essv5035587,essv5003674,essv5140225,essv5038147,essv5051447,essv5047462,essv5021389,essv5091030,essv5087661,essv5078957,essv5155343,essv5017314,essv5101783,essv5089199,essv5082774,essv5047565,essv5013898,essv5151869,essv5106186,essv5114840,essv5052167,essv5082974,essv5104055,essv5113734,essv5037685,essv5149945,essv5135711,essv5110935,essv5014629,essv5118964,essv5126593,essv5105612,essv5148660,essv5119893,essv5049984,essv5080475,essv5042950,essv5065136,essv5067728,essv5078450,essv5050474,essv5150798,essv5107155,essv5118740,essv5036535,essv5113999,essv5115988,essv5134966,essv5051183,essv5047477,essv5082354,essv5036126,essv5026604,essv5158914,essv5128908,essv5054008,essv5157425,essv5117589,essv5102088,essv5088676,essv5019781,essv5088504,essv5038528,essv5067059,essv5156052,essv5155223,essv5026873,essv5154544,essv5003737,essv5006742,essv5131900,essv5065389,essv5080498,essv5068197,essv5117927,essv5097228,essv5124760,essv5133203,essv5140507,essv5068088,essv5068172,essv5050508,essv5032798,essv5113543,essv5077830,essv5120308,essv5088944,essv5056107,essv5129961,essv5014259,essv5024671,essv5035924,essv5093830,essv5006333,essv5070927,essv5079388,essv5133596,essv5081234,essv5117144,essv5087042,essv5066192 M 1184 0 420 "" NA06984,NA06986,NA06989,NA06993,NA06997,NA07000,NA07045,NA07051,NA07055,NA07056,NA07357,NA10835,NA10837,NA10838,NA10840,NA10845,NA10846,NA10852,NA10853,NA10861,NA11829,NA11882,NA11892,NA11917,NA11930,NA11993,NA11994,NA12003,NA12006,NA12045,NA12057,NA12144,NA12155,NA12156,NA12239,NA12249,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12386,NA12399,NA12413,NA12707,NA12708,NA12718,NA12739,NA12748,NA12749,NA12750,NA12753,NA12760,NA12763,NA12776,NA12801,NA12802,NA12813,NA12815,NA12878,NA12892,NA17965,NA17966,NA17972,NA17975,NA17977,NA17979,NA17981,NA17995,NA17998,NA18108,NA18109,NA18124,NA18134,NA18143,NA18144,NA18149,NA18158,NA18160,NA18484,NA18485,NA18486,NA18487,NA18489,NA18497,NA18498,NA18511,NA18515,NA18516,NA18520,NA18529,NA18534,NA18537,NA18545,NA18559,NA18561,NA18563,NA18564,NA18571,NA18573,NA18576,NA18579,NA18593,NA18599,NA18605,NA18627,NA18628,NA18630,NA18633,NA18634,NA18637,NA18640,NA18642,NA18647,NA18674,NA18702,NA18745,NA18852,NA18853,NA18854,NA18858,NA18860,NA18870,NA18909,NA18912,NA18913,NA18914,NA18924,NA18933,NA18935,NA18943,NA18944,NA18945,NA18946,NA18955,NA18968,NA18971,NA18972,NA18973,NA18975,NA18981,NA18990,NA18995,NA18997,NA18999,NA19002,NA19027,NA19038,NA19057,NA19059,NA19063,NA19065,NA19067,NA19068,NA19087,NA19102,NA19114,NA19117,NA19121,NA19123,NA19128,NA19129,NA19130,NA19132,NA19140,NA19141,NA19142,NA19146,NA19147,NA19148,NA19152,NA19159,NA19160,NA19161,NA19175,NA19178,NA19180,NA19184,NA19185,NA19186,NA19190,NA19191,NA19192,NA19200,NA19204,NA19206,NA19213,NA19215,NA19225,NA19235,NA19238,NA19240,NA19309,NA19313,NA19327,NA19332,NA19347,NA19352,NA19359,NA19360,NA19374,NA19376,NA19381,NA19382,NA19383,NA19390,NA19394,NA19403,NA19428,NA19435,NA19436,NA19438,NA19439,NA19443,NA19446,NA19448,NA19449,NA19455,NA19457,NA19462,NA19466,NA19469,NA19472,NA19474,NA19651,NA19654,NA19663,NA19669,NA19670,NA19671,NA19678,NA19680,NA19684,NA19686,NA19703,NA19704,NA19705,NA19712,NA19713,NA19723,NA19726,NA19749,NA19755,NA19756,NA19757,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19780,NA19781,NA19782,NA19783,NA19784,NA19795,NA19834,NA19908,NA19909,NA19914,NA19916,NA19917,NA19919,NA19921,NA19982,NA20126,NA20129,NA20279,NA20281,NA20282,NA20284,NA20289,NA20290,NA20291,NA20292,NA20297,NA20301,NA20302,NA20332,NA20333,NA20334,NA20335,NA20337,NA20340,NA20346,NA20347,NA20350,NA20357,NA20363,NA20364,NA20502,NA20510,NA20512,NA20516,NA20522,NA20524,NA20525,NA20530,NA20535,NA20542,NA20581,NA20582,NA20586,NA20753,NA20755,NA20759,NA20768,NA20769,NA20770,NA20772,NA20774,NA20778,NA20783,NA20797,NA20799,NA20801,NA20803,NA20809,NA20810,NA20812,NA20813,NA20815,NA20819,NA20847,NA20856,NA20862,NA20873,NA20885,NA20889,NA20891,NA20898,NA20900,NA20903,NA20904,NA20910,NA21091,NA21098,NA21102,NA21105,NA21108,NA21137,NA21295,NA21301,NA21302,NA21303,NA21311,NA21314,NA21339,NA21344,NA21352,NA21353,NA21356,NA21360,NA21365,NA21366,NA21378,NA21379,NA21383,NA21385,NA21386,NA21390,NA21399,NA21401,NA21402,NA21403,NA21405,NA21417,NA21423,NA21424,NA21425,NA21435,NA21440,NA21441,NA21442,NA21453,NA21454,NA21455,NA21457,NA21473,NA21479,NA21480,NA21485,NA21487,NA21491,NA21493,NA21494,NA21510,NA21520,NA21523,NA21524,NA21526,NA21574,NA21575,NA21576,NA21597,NA21608,NA21614,NA21620,NA21631,NA21647,NA21648,NA21682,NA21683,NA21685,NA21689,NA21693,NA21716,NA21718,NA21722,NA21723,NA21738,NA21739,NA21741,NA21768,NA21776,NA21825 nsv441878 7 26108917 26111938 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1319276 7 26154398 26154398 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684349 S 2 1 0 "" HuRef esv1600800 7 26174572 26174572 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943401 S 2 1 0 NFE2L3 HuRef esv1335165 7 26183017 26183133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696525 S 2 0 1 NFE2L3 HuRef esv22494 7 26185895 26188884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15311 S 451 0 1 NFE2L3 NA18858 dgv7229n71 7 26202760 26210890 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887850,nsv887852 M 6533 0 2 CBX3,HNRNPA2B1 SP54725,SP54988 dgv7230n71 7 26202760 26215490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887853,nsv887851,nsv887854 M 6533 0 3 CBX3,HNRNPA2B1 SP54672,SP54956,SP55021 esv2390496 7 26212522 26214648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506179 S 1 0 1 CBX3 NA18507 dgv1093n67 7 26218150 26219396 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824035,nsv824033,nsv824030,nsv824034,nsv824036 M 31 5 0 CBX3 AK14,NA18537,NA18582,NA18592,NA18947 esv23140 7 26218240 26219487 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18906 S 451 1 0 CBX3 NA19225 nsv824037 7 26228071 26229234 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430653 S 31 0 1 "" AK16 esv22884 7 26271798 26274774 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12413 S 451 0 3 "" NA18508,NA18523,NA18861 esv1377487 7 26290125 26290356 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102484 S 2 0 1 "" HuRef esv2631761 7 26317375 26318436 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255185 S 1 1 0 SNX10 NA18507 esv271767 7 26317978 26318324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518167,essv2517175 M 157 2 0 Samples from several populations that are part of the HapMap project. SNX10 NA12872,NA18970 nsv366364 7 26364970 26365819 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384942 M 24 SNX10 nsv519252 7 26523946 26524143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696744 S 2026 0 1 "" nsv830929 7 26554413 26716260 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445970 S 95 1 0 C7orf71,SKAP2 nsv464413 7 26580083 26590917 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540332 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00786 nsv516102 7 26584119 26586005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691130,nssv695030,nssv688778,nssv687184,nssv683633,nssv693967,nssv696654,nssv666225,nssv700537 M 2026 0 9 "" esv22972 7 26621332 26622505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12889 S 451 0 1 "" NA06985 esv268235 7 26650258 26650634 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494248,essv2513472,essv2499651,essv2511940,essv2498056,essv2502063 M 157 6 0 Samples from several populations that are part of the HapMap project. C7orf71 NA18502,NA18907,NA19225,NA19238,NA19240,NA19257 esv274317 7 26650277 26650529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580864,essv2579450 M 7 2 0 Samples from several populations that are part of the HapMap project. C7orf71 NA19238,NA19240 nsv5672 7 26677987 26724416 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10539 S 9 0 1 SKAP2 NA18956 nsv887855 7 26790488 26839177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509144 S 6533 0 1 SKAP2 SP54753 nsv507380 7 26814252 26820252 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623000,nssv620370,nssv617732 M 4 3 0 SKAP2 CHM,NA15510,NA18994 nsv5673 7 27013242 27045772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv617 S 9 1 0 "" NA19240 nsv887856 7 27040256 27264316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570726 S 6533 0 1 EVX1,HOTAIRM1,HOTTIP,HOXA1,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B IS32322 dgv1094n67 7 27085819 27261535 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824038,nsv824040,nsv824041,nsv824039 M 31 4 0 EVX1,HOTAIRM1,HOTTIP,HOXA1,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B AK10,AK6,NA18542,NA18968 dgv7231n71 7 27087214 27218771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887857,nsv887866,nsv887864,nsv887867,nsv887865,nsv887875,nsv887863 M 6533 0 7 HOTAIRM1,HOTTIP,HOXA1,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B IS33248,IS40230,IS40297,IS40828,MS10698,MS17208,MS18276 dgv7232n71 7 27093756 27168814 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887858,nsv887859,nsv887868,nsv887874,nsv887860 M 6533 0 8 HOTAIRM1,HOXA1,HOXA10-HOXA9,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311 IS33239,IS33504,IS34057,IS37172,MS17522,SP54725,SP54956,SP54988 dgv7233n71 7 27093756 27183884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887861,nsv887862 M 6533 0 2 HOTAIRM1,HOXA1,HOXA10,HOXA10-HOXA9,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B IS39233,MS11054 dgv7234n71 7 27101839 27264316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887869,nsv887879 M 6533 0 3 EVX1,HOTAIRM1,HOTTIP,HOXA1,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B IS37646,IS39417,MS16315 nsv887870 7 27102833 27121262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511380 S 6533 0 1 HOTAIRM1,HOXA2,HOXA3 SP55021 dgv7235n71 7 27102833 27153020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887873,nsv887872,nsv887871 M 6533 0 3 HOTAIRM1,HOXA2,HOXA3,HOXA4,HOXA5,HOXA6,LOC100133311 SP51109,SP54043,SP57469 nsv5674 7 27119087 27163866 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8350 S 9 0 1 HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,LOC100133311 NA12156 nsv887876 7 27135383 27162594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508571 S 6533 0 1 HOXA4,HOXA5,HOXA6,HOXA7,LOC100133311 SP54672 nsv824042 7 27135756 27213757 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441136 S 31 1 0 HOTTIP,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B NA18969 dgv7236n71 7 27135913 27183884 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887877,nsv887878 M 6533 0 2 HOXA10,HOXA10-HOXA9,HOXA4,HOXA5,HOXA6,HOXA7,HOXA9,LOC100133311,MIR196B IS33601,MS10769 nsv526526 7 27148667 27162638 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702838 S 2026 0 1 HOXA5,HOXA6,HOXA7,LOC100133311 dgv7237n71 7 27171807 27264316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887880,nsv887886,nsv887884,nsv887889,nsv887892,nsv887881 M 6533 0 9 EVX1,HOTTIP,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,MIR196B IS32737,IS33684,IS35484,IS37172,IS38144,IS39233,IS40396,MS16153,SP54956 dgv7238n71 7 27173213 27218771 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887882,nsv887887,nsv887883 M 6533 0 4 HOTTIP,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,MIR196B IS30369,IS34235,MS10311,SP54988 dgv7239n71 7 27174543 27247682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887885,nsv887890,nsv887888 M 6533 0 3 HOTTIP,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13,MIR196B IS33239,IS34057,SP54043 nsv5675 7 27185127 27219355 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2755 S 9 1 0 HOTTIP,HOXA10,HOXA10-HOXA9,HOXA11,HOXA11-AS1,HOXA13 NA18555 nsv887891 7 27190088 27230862 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511381 S 6533 0 1 HOTTIP,HOXA11,HOXA11-AS1,HOXA13 SP55021 nsv519583 7 27210487 27264789 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696934 S 2026 1 0 EVX1,HOTTIP esv2554931 7 27261213 27264397 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370305 S 1 0 1 "" NA18507 esv2385254 7 27261725 27263967 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713017 S 1 0 1 "" NA18507 esv1463059 7 27273577 27273577 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116187 S 2 1 0 "" HuRef nsv887893 7 27293264 27347461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590901 S 6533 0 1 "" IS38602 nsv830930 7 27362363 27553880 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445971 S 95 0 1 HIBADH esv29443 7 27379092 27379578 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17587 S 451 1 0 "" NA12156 nsv437543 7 27404220 27406712 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467424 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18863 esv9035 7 27405703 27405811 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31476 S 1 1 0 "" SJK nsv366786 7 27412200 27415208 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385364 M 24 "" esv2222748 7 27472572 27472978 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899595 S 1 0 1 "" NA18507 esv2437738 7 27480075 27481586 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249176 S 1 0 1 "" NA18507 esv2329038 7 27480673 27481337 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869886 S 1 0 1 "" NA18507 esv5058 7 27480791 27481205 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27499 S 1 0 1 Single Asian sample YH "" YH nsv366664 7 27480861 27481135 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385242 M 24 "" esv1002299 7 27480872 27481144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571433 S 3 0 1 "" HuRef esv5459 7 27480876 27481138 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27900 S 1 0 1 "" SJK esv269080 7 27647857 27648194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504009 S 157 1 0 Samples from several populations that are part of the HapMap project. HIBADH hapmap_pooled_sample_set esv2603706 7 27749540 27751143 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338946 S 1 0 1 TAX1BP1 NA18507 esv2172029 7 27749715 27750315 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956101 S 1 0 1 TAX1BP1 NA18507 esv993269 7 27749906 27750253 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567495 S 3 0 1 TAX1BP1 HuRef esv1133870 7 27749917 27750265 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767940 S 2 0 1 TAX1BP1 HuRef dgv2072e1 7 27760141 27939394 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv64,essv4463 M 271 0 0 JAZF1,TAX1BP1 NA18552 esv989626 7 27770468 27771625 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563659 S 3 1 0 TAX1BP1 HuRef nsv5677 7 27806029 27851030 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8351 S 9 0 1 JAZF1,TAX1BP1 NA12156 esv24518 7 27910344 27910918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12684 S 451 0 1 JAZF1 NA12749 nsv520555 7 27919154 27925275 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697483 S 2026 0 1 JAZF1 esv269333 7 27986860 27987121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512524,essv2493763,essv2507119,essv2506471,essv2493567,essv2496890 M 157 6 0 Samples from several populations that are part of the HapMap project. JAZF1 NA18489,NA18517,NA18870,NA19108,NA19137,NA19190 nsv830931 7 28138208 28335896 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445973,nssv1445972 M 95 2 0 CREB5,JAZF1,LOC100128081 esv2461042 7 28180281 28181600 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374676 S 1 0 1 JAZF1 NA18507 esv1940109 7 28180647 28181362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4640223 S 1 0 1 JAZF1 NA18507 esv1002613 7 28180827 28181190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574830 S 3 0 1 JAZF1 HuRef esv1128518 7 28180829 28181193 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147072 S 2 0 1 JAZF1 HuRef nsv5678 7 28286495 28331350 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8352 S 9 0 1 CREB5 NA12156 nsv830932 7 28337031 28559764 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445975,nssv1445977,nssv1445998,nssv1445993,nssv1445997,nssv1445992,nssv1445988,nssv1445984,nssv1445986,nssv1445987,nssv1445990,nssv1445979,nssv1445995,nssv1445994,nssv1445989,nssv1445978,nssv1445991,nssv1445983,nssv1445976,nssv1445982,nssv1445981,nssv1445980 M 95 21 1 CREB5 nsv887894 7 28389315 28593456 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548460 S 6533 1 0 CREB5 MS17852 nsv464414 7 28454777 28518902 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540333 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CREB5 HGDP00444 nsv511954 7 28540418 28542069 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624495 S 1 0 1 CREB5 1 esv24798 7 28540564 28541742 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11441,esv14946 M 451 5 3 CREB5 NA07045,NA11993,NA12776,NA12878,NA15510,NA19129,NA19147,NA19240 nsv821171 7 28540564 28541782 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420650 S 1 0 1 CREB5 NA10851 esv3333 7 28540750 28541731 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25774 S 1 0 1 Single Asian sample YH CREB5 YH nsv824044 7 28540982 28541782 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424282,nssv1440641,nssv1433463,nssv1436712,nssv1428365 M 31 5 0 CREB5 AK10,NA18542,NA18547,NA18582,NA18592 esv2470943 7 28562423 28563891 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227135 S 1 0 1 CREB5 NA18507 esv2141048 7 28562986 28563564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958697 S 1 0 1 CREB5 NA18507 esv1447352 7 28567061 28567061 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160912 S 2 1 0 CREB5 HuRef nsv830933 7 28572801 28735739 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1445999 S 95 0 1 CREB5 nsv5679 7 28605322 28645615 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8353 S 9 0 1 CREB5 NA12156 esv25736 7 28673003 28673633 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16260 S 451 0 1 CREB5 NA12239 esv2254968 7 28897812 28898229 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847669 S 1 0 1 "" NA18507 esv24998 7 28916105 28916727 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12481 S 451 0 4 "" NA18505,NA18909,NA19114,NA19129 nsv524247 7 28941868 28946611 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700139 S 2026 0 1 "" nsv524487 7 28963469 28965188 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700425 S 2026 0 1 TRIL esv269197 7 28979727 28979889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496417,essv2493770,essv2498498,essv2507147,essv2493980,essv2495507,essv2498749,essv2510462,essv2499638,essv2502017 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18517,NA18858,NA18870,NA18871,NA18916,NA19138,NA19172,NA19225,NA19257 esv2173744 7 29008938 29009376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747015 S 1 0 1 CPVL,LOC100506497 NA18507 nsv525084 7 29033478 29038237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701142 S 2026 0 1 CPVL esv267722 7 29090628 29090713 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518446 S 157 1 0 Samples from several populations that are part of the HapMap project. CPVL NA12287 esv270163 7 29151664 29151955 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541070,essv2571655,essv2536778,essv2543970,essv2531959,essv2529430,essv2530402 M 157 7 0 Samples from several populations that are part of the HapMap project. CPVL NA11831,NA11840,NA11920,NA11992,NA12006,NA19093,NA19141 nsv5680 7 29167494 29200910 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3515 S 9 1 0 CHN2 NA12878 nsv887895 7 29267493 29514849 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506851 S 6533 1 0 CHN2 SP54408 esv2194510 7 29274459 29274883 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972708 S 1 0 1 CHN2 NA18507 nsv5681 7 29277810 29322917 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8354 S 9 0 1 CHN2 NA12156 nsv830934 7 29319349 29494165 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446000 S 95 1 0 CHN2 esv270445 7 29352263 29355860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516062 S 157 1 0 Samples from several populations that are part of the HapMap project. CHN2 NA12873 esv273752 7 29415270 29415436 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581366 S 7 1 0 Samples from several populations that are part of the HapMap project. CHN2 NA12878 esv2526582 7 29442822 29444227 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328345 S 1 0 1 CHN2 NA18507 esv2028870 7 29443252 29443945 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787922 S 1 0 1 CHN2 NA18507 esv4539 7 29443393 29443816 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26980 S 1 0 1 Single Asian sample YH CHN2 YH esv270920 7 29461016 29461171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493777,essv2494793,essv2509463 M 157 3 0 Samples from several populations that are part of the HapMap project. CHN2 NA18517,NA18519,NA19129 esv33032 7 29463131 29463309 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100845 S 51 1 0 CHN2 21656 nsv366043 7 29479625 29488966 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384621 M 24 CHN2 nsv830935 7 29536453 29759315 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446001 S 95 1 0 DPY19L2P3,LOC646762,MIR550A3,PRR15,ZNRF2P2 essv5989 7 29614878 29753974 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 NA18552 dgv2073e1 7 29614878 29901897 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv822,essv4481 M 271 0 0 DPY19L2P3,LOC646762,MIR550A3,WIPF3,ZNRF2P2 NA18552 nsv469585 7 29624467 29789669 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649699 M 265 0 0 Samples from several populations that are part of the HapMap project. DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 dgv7240n71 7 29635163 29749003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887897,nsv887898,nsv887896 M 6533 4 0 DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 MS25940,SP54042,SP55304,SP56213 nsv8072 7 29635669 29755557 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15556,nssv16119,nssv16059,nssv17203 M 31 3 1 Samples from several populations that are part of the HapMap project. DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 NA12740,NA18504,NA18552 esv24568 7 29638465 29733840 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16919,esv10920,esv17360,esv12256 M 451 1 4 DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 NA07045,NA11995,NA12239,NA12878,NA18511 nsv824045 7 29638851 29751911 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422673 S 31 1 0 DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 NA18552 nsv442036 7 29640265 29654043 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC646762 nsv516270 7 29640342 29744776 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690620,nssv667235,nssv681268,nssv703278,nssv681451,nssv700657 M 2026 4 2 DPY19L2P3,LOC646762,MIR550A3,ZNRF2P2 esv33700 7 29641913 29681311 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101602,essv95316,essv95874,essv92834,essv92630 M 51 0 5 LOC646762 21603,21872,21911,21939,22233 nsv511376 7 29654107 29657183 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625982 S 1 0 1 LOC646762 1 nsv511955 7 29654881 29656764 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624496 S 1 0 1 LOC646762 1 esv1005669 7 29654978 29656669 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583478 S 3 0 1 LOC646762 HuRef nsv887899 7 29696796 29758203 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517475 S 6533 1 0 DPY19L2P3 SP57278 nsv887900 7 29696796 30010653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565078 S 6533 0 1 DPY19L2P3,SCRN1,WIPF3 IS30351 nsv830936 7 29740033 29966658 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446002 S 95 1 0 DPY19L2P3,SCRN1,WIPF3 esv26731 7 29791065 29798495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16505 S 451 0 1 "" NA19108 nsv5682 7 29886603 29918337 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv619 S 9 1 0 WIPF3 NA19240 esv1527161 7 29897284 29897348 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700590 S 2 0 1 WIPF3 HuRef nsv511956 7 29989497 29991799 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624497 S 1 0 1 SCRN1 1 nsv365765 7 30037729 30037808 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384343 M 24 PLEKHA8 nsv824046 7 30179136 30179653 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421777 S 31 0 1 "" NA18997 nsv5683 7 30272651 30287607 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2756 S 9 1 0 "" NA18555 nsv436557 7 30294203 32737039 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466335 S 2 0 1 Samples from several populations that are part of the HapMap project. ADCYAP1R1,AQP1,AVL9,C7orf16,CCDC129,CRHR2,DKFZP586I1420,DPY19L1P1,FAM188B,GARS,GGCT,GHRHR,INMT,INMT-FAM188B,LOC100130673,LOC401320,LSM5,MIR550A1,MIR550B1,NEUROD6,NOD1,PDE1C,ZNRF2,ZNRF2P1 NA18505 nsv523514 7 30354934 30410802 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699287 S 2026 1 0 DKFZP586I1420,ZNRF2 nsv525379 7 30362656 30372216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701500 S 2026 0 1 ZNRF2 esv1922857 7 30399022 30399519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594630 S 1 0 1 "" NA18507 esv2101237 7 30492836 30493211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951711 S 1 0 1 "" NA18507 esv2456067 7 30501535 30502995 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209191 S 1 0 1 GGCT NA18507 esv2404576 7 30501960 30502641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796500 S 1 0 1 "" NA18507 esv1011000 7 30502113 30502440 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568488 S 3 0 1 "" HuRef esv7027 7 30502114 30502454 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29468 S 1 0 1 "" SJK esv1183650 7 30502126 30502454 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927807 S 2 0 1 "" HuRef nsv5684 7 30503006 30531118 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4974 S 9 1 0 GGCT NA19129 esv1382198 7 30576451 30576517 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934838 S 2 0 1 LOC401320 HuRef nsv527038 7 30623992 31128470 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703414 S 2026 1 0 ADCYAP1R1,AQP1,CRHR2,FAM188B,GARS,GHRHR,INMT,INMT-FAM188B nsv830938 7 30650755 30864048 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446003 S 95 1 0 CRHR2,FAM188B,INMT,INMT-FAM188B esv1664845 7 30706010 30706010 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012284 S 2 1 0 CRHR2 HuRef nsv830939 7 30710996 30878031 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446004 S 95 0 1 FAM188B,INMT,INMT-FAM188B nsv464416 7 30778271 30803528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540334 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM188B,INMT-FAM188B HGDP00254 esv269741 7 30780634 30786758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512576,essv2502981,essv2506913,essv2497725,essv2499796 M 157 5 0 Samples from several populations that are part of the HapMap project. FAM188B,INMT-FAM188B NA18489,NA18507,NA19102,NA19147,NA19225 nsv526591 7 30791595 30803528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702910 S 2026 0 1 FAM188B,INMT-FAM188B esv22626 7 30822447 30823302 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18412 S 451 1 0 FAM188B,INMT-FAM188B NA07037 esv2390406 7 30863421 30864088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4983341 S 1 0 1 FAM188B,INMT-FAM188B NA18507 esv5109 7 30863533 30863974 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27550 S 1 0 1 Single Asian sample YH FAM188B,INMT-FAM188B YH esv5499 7 30863597 30863886 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27940 S 1 0 1 FAM188B,INMT-FAM188B SJK esv993279 7 30869666 30875499 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564776 S 3 0 1 FAM188B,INMT-FAM188B HuRef nsv887901 7 30905238 30925527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500032 S 6533 0 1 AQP1 SP50159 dgv7241n71 7 30912452 30922954 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887903,nsv887902 M 6533 3 0 AQP1 SP50652,SP54468,SP56200 dgv7242n71 7 30912452 30936279 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887905,nsv887904 M 6533 2 0 AQP1 SP52077,SP54442 nsv887906 7 30917089 30922196 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519235,nssv1508557 M 6533 1 1 AQP1 SP54585,SP80988 dgv7243n71 7 30917089 30923383 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887907,nsv887909,nsv887910 M 6533 3 0 AQP1 SP54381,SP54448,SP54761 nsv887908 7 30917269 30922196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500949 S 6533 0 1 AQP1 SP50908 nsv887911 7 30917645 30928277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502635 S 6533 0 1 AQP1 SP51307 nsv518297 7 30940878 30966625 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695729 S 2026 1 0 "" nsv527370 7 30956031 30966625 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703802 S 2026 1 0 "" nsv527586 7 30969948 30970344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704047 S 2026 0 1 GHRHR esv24642 7 31019686 31020356 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21380 S 451 0 1 "" NA18511 esv2595683 7 31036392 31038073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228507 S 1 0 1 "" NA18507 esv2039863 7 31036914 31037570 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639682 S 1 0 1 "" NA18507 esv1010560 7 31037105 31037433 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568965 S 3 0 1 "" HuRef esv1567990 7 31037115 31037444 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087373 S 2 0 1 "" HuRef nsv464418 7 31038911 31082693 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540336 S 1557 0 1 ADCYAP1R1 1780854340_A nsv5685 7 31067672 31101133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv620 S 9 1 0 ADCYAP1R1 NA19240 nsv519081 7 31100842 31103135 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696552 S 2026 0 1 ADCYAP1R1 nsv464419 7 31129528 31186363 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540337 S 1557 0 1 "" NINDS_13 nsv887912 7 31145274 31201400 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541939 S 6533 1 0 "" MS15554 nsv819625 7 31157234 31164915 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419839 S 2 0 1 "" AK1 nsv830940 7 31215895 31427441 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446005 S 95 1 0 NEUROD6 nsv5686 7 31279702 31293716 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3516 S 9 0 1 "" NA12878 esv2513537 7 31281177 31285961 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262920 S 1 0 1 "" NA18507 esv2142271 7 31282000 31285656 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811059 S 1 0 1 "" NA18507 esv22568 7 31282013 31285456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20946 S 451 0 22 "" NA06985,NA11931,NA11993,NA12004,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18861,NA18907,NA18909,NA18916,NA19099,NA19129,NA19190,NA19240 dgv1095n67 7 31282182 31285581 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824048,nsv824047 M 31 0 7 "" AK12,NA18537,NA18552,NA18564,NA18570,NA18582,NA18968 nsv514413 7 31282404 31285468 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627867 S 1414 0 1 "" nsv524152 7 31295230 31295786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700031 S 2026 0 1 "" esv1010000 7 31488197 31499590 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564806 S 3 0 1 "" HuRef esv2546303 7 31489714 31492523 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322636 S 1 0 1 "" NA18507 esv2372969 7 31490153 31491965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959628 S 1 0 1 "" NA18507 esv1758275 7 31490304 31491792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3891809 S 2 0 1 "" HuRef esv995660 7 31556324 31558520 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565292 S 3 0 1 CCDC129 HuRef dgv1096n67 7 31556542 31558529 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824049,nsv824051,nsv824050 M 31 0 12 CCDC129 AK10,AK18,AK20,AK8,NA18537,NA18564,NA18582,NA18942,NA18949,NA18968,NA18969,NA18999 nsv819342 7 31556709 31558572 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419345 S 2 0 1 CCDC129 AK1 esv24313 7 31556764 31558482 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17126 S 451 0 6 CCDC129 NA11894,NA11993,NA11995,NA12828,NA12878,NA15510 dgv166e180 7 31556912 31558529 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1005712,esv993805 M 3 0 1 CCDC129 HuRef esv2752155 7 31590271 31706156 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982077,essv6986078,essv6988489 M 771 1 0 C7orf16,CCDC129 BEC_518 esv269282 7 31609576 31609661 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516088 S 157 1 0 Samples from several populations that are part of the HapMap project. CCDC129 NA12873 dgv7244n71 7 31652434 31896641 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887913,nsv887915 M 6533 2 0 C7orf16,CCDC129,PDE1C SP53509,SP55160 esv2448786 7 31662869 31663591 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354068 S 1 1 0 "" NA18507 esv1756820 7 31663305 31663305 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115580 S 2 1 0 "" HuRef esv271324 7 31670349 31670747 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496745,essv2494252,essv2503027,essv2501515,essv2506530,essv2498774,essv2497004,essv2512059 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18507,NA19093,NA19108,NA19138,NA19190,NA19238 esv273357 7 31670390 31670537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580513 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv28004 7 31679481 31682505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19474 S 451 0 1 "" NA18517 esv2626271 7 31683103 31684667 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380420 S 1 0 1 "" NA18507 nsv887914 7 31689673 31793705 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505078 S 6533 1 0 C7orf16,PDE1C SP53041 esv271942 7 31859099 31859433 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2553931,essv2564390,essv2564256,essv2540162,essv2520741,essv2569326,essv2578561,essv2527289,essv2561671,essv2568939,essv2543754,essv2562175,essv2539497,essv2534053,essv2575581,essv2538738,essv2574851 M 157 17 0 Samples from several populations that are part of the HapMap project. PDE1C NA12287,NA12751,NA12828,NA18489,NA18498,NA18508,NA18510,NA18522,NA18523,NA18861,NA18870,NA18909,NA18912,NA18916,NA19099,NA19108,NA19138 nsv887916 7 31859481 31919814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531669 S 6533 0 1 PDE1C MS10591 esv33248 7 31861796 31869307 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99454 S 51 1 0 PDE1C 22335 nsv887917 7 31863766 31896641 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505079 S 6533 1 0 PDE1C SP53041 esv6756 7 31868459 31868547 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29197 S 1 1 0 PDE1C SJK nsv824052 7 31878939 31879503 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436713 S 31 0 1 PDE1C NA18542 esv2428975 7 31892502 31893131 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197473 S 1 1 0 PDE1C NA18507 esv1399325 7 31893003 31893003 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119708 S 2 1 0 PDE1C HuRef nsv464420 7 31980348 31984018 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540338 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PDE1C HGDP01212 nsv887918 7 32009721 32049700 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546009 S 6533 1 0 PDE1C MS17097 nsv824053 7 32030024 32030545 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424286 S 31 0 1 PDE1C NA18582 nsv527840 7 32031017 32032616 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704338 S 2026 0 1 PDE1C nsv887919 7 32086055 32204786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546010 S 6533 1 0 PDE1C MS17097 esv2225343 7 32118784 32119185 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687465 S 1 0 1 PDE1C NA18507 esv2105969 7 32135242 32135896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806458 S 1 0 1 PDE1C NA18507 esv3414 7 32135378 32135819 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25855 S 1 0 1 Single Asian sample YH PDE1C YH esv6080 7 32135454 32135700 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28521 S 1 0 1 PDE1C SJK nsv887920 7 32142956 32204786 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556308 S 6533 0 1 PDE1C MS21905 nsv464421 7 32172944 32389924 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540339 S 1557 1 0 PDE1C 1780854338_A nsv523567 7 32175752 32397104 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699349 S 2026 1 0 PDE1C esv2752156 7 32183385 32389924 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984695,essv6984696,essv6984697,essv6988837,essv6987652 M 771 1 0 PDE1C SPC_166 nsv824055 7 32191215 32193312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438225 S 31 0 1 PDE1C NA18951 nsv528955 7 32191808 32194827 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705651 S 2026 0 1 PDE1C nsv5688 7 32196999 32230946 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8355 S 9 1 0 PDE1C NA12156 nsv887921 7 32216147 32695699 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546011 S 6533 1 0 AVL9,DPY19L1P1,LOC100130673,LSM5,PDE1C MS17097 esv2513864 7 32252789 32254395 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304100 S 1 0 1 PDE1C NA18507 esv2271605 7 32253187 32253827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885261 S 1 0 1 PDE1C NA18507 esv2608247 7 32253376 32253644 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294944 S 1 0 1 PDE1C NA18507 nsv5689 7 32278948 32313021 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8356 S 9 1 0 PDE1C NA12156 esv1014975 7 32304134 32304197 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254791 S 2 0 1 PDE1C HuRef nsv5690 7 32345412 32390746 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2639,nssv3517 M 9 0 2 "" NA12878,NA18555 esv2616205 7 32356080 32360297 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246783 S 1 0 1 "" NA18507 esv2356506 7 32356511 32359826 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976833 S 1 0 1 "" NA18507 nsv511957 7 32356651 32359760 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624498 S 1 0 1 "" 1 esv5271 7 32356662 32359730 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27712 S 1 0 1 Single Asian sample YH "" YH nsv499227 7 32356676 32359652 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586019 S 9 0 1 "" esv1644195 7 32356690 32359651 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173894 S 2 0 1 "" HuRef esv1008203 7 32356690 32360923 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563520 S 3 0 1 "" HuRef esv8635 7 32356693 32359665 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31076 S 1 0 1 "" SJK nsv519972 7 32381908 32389924 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659761,nssv685133 M 2026 0 2 "" esv2483673 7 32425617 32427009 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350456 S 1 0 1 "" NA18507 esv2044568 7 32445441 32445818 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607702 S 1 0 1 "" NA18507 nsv887922 7 32468630 32660744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564087 S 6533 1 0 AVL9,DPY19L1P1,LSM5 IS30163 esv3153 7 32516238 32517755 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25594 S 1 0 1 Single Asian sample YH AVL9 YH esv29644 7 32516239 32517684 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20817 S 451 28 0 AVL9 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA12156,NA12287,NA12749,NA12776,NA12828,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv820638 7 32516369 32517684 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420651 S 1 0 1 AVL9 NA10851 esv996889 7 32537553 32537562 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582709 S 3 1 0 AVL9 HuRef nsv887923 7 32540095 32695699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557463,nssv1550222 M 6533 0 2 AVL9,DPY19L1P1 MS18375,MS22705 nsv887924 7 32615714 32709845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547903 S 6533 0 1 DPY19L1P1 MS17611 esv2590069 7 32635360 32635491 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260603 S 1 0 1 DPY19L1P1 NA18507 esv1000010 7 32641110 32641110 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578671 S 3 1 0 DPY19L1P1 HuRef nsv830941 7 32652611 32835863 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446006 S 95 1 0 DPY19L1P1,LOC401321,MIR550A2,MIR550B2,ZNRF2P1 nsv436907 7 32674611 35005574 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466336 S 2 1 0 Samples from several populations that are part of the HapMap project. AAA1,BBS9,BMPER,DPY19L1,DPY19L1P1,FKBP9,KBTBD2,LOC401321,MIR550A2,MIR550B2,NPSR1,NT5C3,RP9,RP9P,ZNRF2P1 NA18505 nsv442037 7 32697911 32703662 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DPY19L1P1 esv29452 7 32712648 32818040 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18054,esv10331 M 451 1 5 DPY19L1P1,LOC401321,MIR550A2,MIR550B2,ZNRF2P1 NA07045,NA12239,NA12287,NA12749,NA15510,NA18511 esv2001961 7 32777551 32777981 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842210 S 1 0 1 "" NA18507 nsv5691 7 32831618 32866889 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3518 S 9 1 0 "" NA12878 esv27091 7 32965738 33019569 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14217,esv14638 M 451 1 1 FKBP9 NA12828,NA18517 nsv830942 7 33014600 33213260 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446008 S 95 1 0 BBS9,NT5C3,RP9 nsv524383 7 33027280 33029722 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700299 S 2026 0 1 NT5C3 nsv508450 7 33089860 33151373 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622572 S 4 0 1 BBS9,RP9 NA18994 dgv808n27 7 33098254 33159325 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464423,nsv464422 M 1557 2 0 BBS9,RP9 1780862408_A,HGDP00885 nsv520406 7 33098254 33159362 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671212,nssv701130,nssv690986,nssv683870,nssv691705 M 2026 5 0 BBS9,RP9 nsv830943 7 33133631 33319284 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446009 S 95 1 0 BBS9 dgv1097n67 7 33144305 33145897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824056,nsv824057 M 31 0 11 BBS9 AK16,AK2,AK6,NA18526,NA18537,NA18942,NA18947,NA18949,NA18951,NA18972,NA18997 esv22864 7 33144325 33145881 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17818 S 451 0 1 BBS9 NA15510 nsv819841 7 33144334 33146877 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419443 S 2 0 1 BBS9 AK1 esv7864 7 33144339 33145893 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30305 S 1 0 1 BBS9 SJK nsv824058 7 33145218 33145863 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429143,nssv1434487 M 31 0 2 BBS9 AK12,NA18570 esv270812 7 33161820 33162160 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571671,essv2521361,essv2550421,essv2561921,essv2537671,essv2528347,essv2546709,essv2530203,essv2572815,essv2571528 M 157 10 0 Samples from several populations that are part of the HapMap project. BBS9 NA11840,NA11894,NA12234,NA12874,NA12878,NA12891,NA12892,NA19141,NA19143,NA19238 esv272303 7 33161826 33162160 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582110,essv2582674,essv2582996,essv2584754 M 7 4 0 Samples from several populations that are part of the HapMap project. BBS9 NA12878,NA12891,NA12892,NA19239 esv271895 7 33200528 33202037 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507974,essv2495087 M 157 2 0 Samples from several populations that are part of the HapMap project. BBS9 NA07051,NA12003 nsv521481 7 33208999 33211653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698092 S 2026 0 1 BBS9 nsv524473 7 33269173 33270743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700411 S 2026 0 1 BBS9 nsv887925 7 33270743 33327848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515765 S 6533 0 1 BBS9 SP56267 nsv830944 7 33356417 33516407 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446011,nssv1446010 M 95 2 0 BBS9 nsv511958 7 33368745 33371565 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624499 S 1 0 1 BBS9 1 esv2633060 7 33369705 33371276 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289744 S 1 0 1 BBS9 NA18507 esv1937243 7 33369857 33370598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711528 S 1 0 1 BBS9 NA18507 esv5341 7 33369985 33370449 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27782 S 1 0 1 Single Asian sample YH BBS9 YH esv7559 7 33370061 33370383 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30000 S 1 0 1 BBS9 SJK nsv523843 7 33419669 33419806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699676 S 2026 0 1 BBS9 nsv520794 7 33473431 33484048 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679552,nssv675491 M 2026 0 2 BBS9 nsv830945 7 33493173 33637117 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446012 S 95 0 1 BBS9 esv992894 7 33570155 33570747 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587116 S 3 0 1 BBS9 HuRef nsv523799 7 33580085 33636417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699627 S 2026 0 1 BBS9 nsv464424 7 33603068 33684338 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540342 S 1557 0 1 BBS9 NINDS_172 nsv528526 7 33606395 33616239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705137 S 2026 0 1 BBS9 nsv523888 7 33606395 33630458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699731 S 2026 0 1 BBS9 nsv830946 7 33613891 33793404 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446013 S 95 1 0 "" esv269550 7 33646191 33646533 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2550305,essv2556989,essv2542669,essv2541662,essv2555742,essv2529875,essv2531450,essv2536054 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA12234,NA18501,NA18550,NA18592,NA18945,NA18949,NA18961 esv3382 7 33669395 33669615 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25823 S 1 0 1 Single Asian sample YH "" YH esv1011070 7 33674799 33674932 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574563 S 3 0 1 "" HuRef nsv365542 7 33674799 33674932 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384120 M 24 "" esv1340024 7 33674804 33674938 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109505 S 2 0 1 "" HuRef esv1967521 7 33678344 33678781 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787801 S 1 0 1 "" NA18507 esv993263 7 33678539 33678599 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584061 S 3 0 1 "" HuRef esv1263246 7 33678543 33678604 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722816 S 2 0 1 "" HuRef nsv830947 7 33718674 33912843 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446014 S 95 1 0 BMPER esv1006587 7 33755214 33755214 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573268 S 3 1 0 "" HuRef esv1214749 7 33755215 33755215 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319778 S 2 1 0 "" HuRef nsv365442 7 33755216 33755216 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384020 M 24 "" nsv507381 7 33824296 33830296 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620371 S 4 1 0 "" NA15510 esv2616525 7 33864659 33866218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213385 S 1 0 1 "" NA18507 esv2137116 7 33865183 33865894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900849 S 1 0 1 "" NA18507 esv3960 7 33865342 33865799 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26401 S 1 0 1 Single Asian sample YH "" YH esv995764 7 33865371 33865701 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577113 S 3 0 1 "" HuRef esv1338687 7 33865381 33865712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226197 S 2 0 1 "" HuRef nsv365852 7 33865382 33865712 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384430 M 24 "" esv5464 7 33865384 33865696 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27905 S 1 0 1 "" SJK dgv809n27 7 33882669 33904913 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464425,nsv464426 M 1557 0 2 "" HGDP00454,HGDP00464 nsv887926 7 33956169 34647745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541947 S 6533 0 1 AAA1,BMPER MS15571 nsv819996 7 33976405 33977063 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419043 S 2 1 0 BMPER AK1 esv1009646 7 34071306 34081429 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564430 S 3 0 1 BMPER HuRef nsv830949 7 34109672 34302143 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446015 S 95 1 0 BMPER nsv523931 7 34125515 34126933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699776 S 2026 0 1 BMPER nsv887927 7 34217884 34390349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522630 S 6533 0 1 AAA1 SP53293 dgv7245n71 7 34267632 34365009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887929,nsv887928 M 6533 0 2 AAA1 IS37639,MS15491 nsv887930 7 34305123 34390349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585559 S 6533 0 1 AAA1 IS37543 nsv5692 7 34365606 34410550 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8357 S 9 0 1 AAA1 NA12156 nsv523351 7 34417742 34430120 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699100 S 2026 1 0 AAA1 esv2488425 7 34422303 34423820 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311658 S 1 0 1 AAA1 NA18507 esv269693 7 34459293 34459625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565863,essv2543995,essv2545500,essv2525353,essv2576309,essv2520050,essv2521028,essv2551917,essv2569377,essv2539088,essv2569797,essv2527224,essv2561631,essv2541958,essv2528119,essv2534041,essv2529787,essv2575597,essv2526690,essv2572721,essv2568528,essv2560360,essv2571214,essv2574295,essv2557913 M 157 25 0 Samples from several populations that are part of the HapMap project. AAA1 NA10851,NA11829,NA11992,NA12003,NA12156,NA12814,NA12815,NA18498,NA18504,NA18508,NA18519,NA18520,NA18522,NA18523,NA18856,NA18907,NA18916,NA19093,NA19099,NA19114,NA19143,NA19147,NA19190,NA19238,NA19240 esv273548 7 34459293 34459625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584137,essv2583827 M 7 2 0 Samples from several populations that are part of the HapMap project. AAA1 NA19238,NA19240 dgv1098n67 7 34459512 34469715 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824059,nsv824062,nsv824060 M 31 3 0 AAA1 AK2,AK4,NA18566 dgv1099n67 7 34462045 34462684 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824061,nsv824063 M 31 7 0 AAA1 AK12,AK18,NA18592,NA18942,NA18947,NA18949,NA18969 nsv830950 7 34479420 34658664 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446016 S 95 1 0 AAA1 nsv830951 7 34501339 34660378 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446017 S 95 0 1 AAA1 esv269999 7 34566217 34566349 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496845,essv2494125,essv2499656 M 157 3 0 Samples from several populations that are part of the HapMap project. AAA1 NA18498,NA18502,NA19225 esv2432833 7 34613699 34615311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358143 S 1 0 1 AAA1 NA18507 esv2420974 7 34614131 34614687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4759505 S 1 0 1 AAA1 NA18507 nsv366629 7 34614229 34614510 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385207 M 24 AAA1 nsv5693 7 34614615 34660482 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6120 S 9 0 1 AAA1 NA12156 nsv887931 7 34668981 34700776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522095 S 6533 0 1 AAA1,NPSR1 SP52723 nsv818494 7 34676579 34686172 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418468 S 112 0 1 AAA1,NPSR1 NA19193 nsv887932 7 34683334 34706738 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517628 S 6533 0 1 AAA1,NPSR1 SP57329 nsv523149 7 34685030 34686074 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698857 S 2026 0 1 AAA1,NPSR1 nsv523190 7 34685030 34686172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698906 S 2026 1 0 AAA1,NPSR1 nsv517860 7 34700776 34702727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695264 S 2026 0 1 AAA1,NPSR1 dgv7246n71 7 34707415 34716512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887936,nsv887933,nsv887935 M 6533 0 3 AAA1,NPSR1 SP50066,SP52493,SP56833 dgv7247n71 7 34707687 34713542 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887934,nsv887938,nsv887937 M 6533 0 3 AAA1,NPSR1 SP51302,SP51339,SP55465 nsv819499 7 34709914 34710088 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418993 S 2 0 1 AAA1,NPSR1 AK1 nsv887939 7 34718011 34756113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506587 S 6533 0 1 AAA1,NPSR1 SP54381 nsv887940 7 34735288 34756113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505577 S 6533 0 1 AAA1,NPSR1 SP53687 nsv887941 7 34758746 34810336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505578 S 6533 0 1 AAA1,NPSR1 SP53687 nsv887942 7 34768335 34794472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519123 S 6533 0 1 AAA1,NPSR1 SP80957 nsv887943 7 34780857 34794472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513833 S 6533 0 1 AAA1,NPSR1 SP55851 nsv887944 7 34780857 34810336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505279 S 6533 1 0 AAA1,NPSR1 SP53347 nsv887945 7 34784929 34787122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506588 S 6533 0 1 AAA1,NPSR1 SP54381 nsv887946 7 34785058 34794472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502694 S 6533 0 1 AAA1,NPSR1 SP51339 nsv887947 7 34787953 34803318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507128 S 6533 0 1 AAA1,NPSR1 SP54477 dgv7248n71 7 34787953 34810336 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887948,nsv887949 M 6533 0 2 AAA1,NPSR1 SP56004,SP57469 nsv887950 7 34814552 34826393 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503552 S 6533 1 0 AAA1,NPSR1 SP52077 dgv418n21 7 34855747 34890862 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528377,nsv516166 M 2026 0 23 NPSR1 esv25996 7 34862381 34881253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20066 S 451 0 2 NPSR1 NA19099,NA19108 nsv818495 7 34865760 34874311 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416557,nssv1416748,nssv1416556,nssv1416747 M 112 0 4 NPSR1 NA19160,NA19161,NA19171,NA19173 esv2421641 7 34865760 34877868 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084793,essv5004295,essv5153066,essv5136435,essv5003409,essv5072426,essv5029916,essv5092843,essv5077003,essv5020091,essv5053245,essv5033340,essv5105610,essv5099940,essv5020085,essv5158930,essv5122520,essv5105087,essv5117022,essv5064262,essv5058885,essv5092827,essv5034154,essv5065134,essv5052543,essv5016882,essv5034044,essv5136988,essv5065597,essv5060881,essv5141243,essv5024228,essv5120279,essv5062576,essv5061924 M 1184 0 35 NPSR1 NA18498,NA18510,NA18910,NA18923,NA19099,NA19101,NA19103,NA19108,NA19122,NA19123,NA19160,NA19161,NA19171,NA19173,NA19176,NA19182,NA19185,NA19189,NA19191,NA19210,NA19211,NA19221,NA19223,NA19327,NA19399,NA19467,NA19834,NA19835,NA19836,NA20356,NA20358,NA21318,NA21635,NA21636,NA21678 nsv442038 7 34866102 34879011 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NPSR1 nsv5694 7 34891490 34899441 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8359 S 9 0 1 "" NA12156 nsv830952 7 34924286 35073449 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446019,nssv1446020 M 95 2 0 DPY19L1 nsv830953 7 35001538 35197614 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446021 S 95 1 0 DPY19L1,DPY19L2P1 dgv7249n71 7 35020570 35094006 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887952,nsv887951 M 6533 0 2 DPY19L1 SP51051,SP53036 esv23431 7 35043213 35043883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17969 S 451 0 1 DPY19L1 NA07045 nsv5695 7 35047265 35053634 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2640 S 9 0 1 "" NA18555 esv1572102 7 35048561 35048561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098411 S 2 1 0 "" HuRef esv25407 7 35050406 35052889 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18085 S 451 4 2 "" NA07037,NA11995,NA18523,NA18907,NA19108,NA19257 nsv820978 7 35050406 35052889 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420652 S 1 0 1 "" NA10851 nsv830954 7 35271101 35491256 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446022 S 95 1 0 LOC401324 nsv819443 7 35275041 35275530 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418972 S 2 0 1 "" AK1 esv999242 7 35361137 35372230 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564957 S 3 0 1 LOC401324 HuRef nsv5696 7 35378699 35421199 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8360 S 9 0 1 LOC401324 NA12156 esv2108004 7 35410353 35410774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4581245 S 1 0 1 "" NA18507 nsv507382 7 35505840 35511840 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623002,nssv620373 M 4 2 0 "" NA15510,NA18994 nsv471638 7 35508677 35693329 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550260,nssv550259,nssv550262,nssv550261 M 48 4 0 HERPUD2 NA11323,NA15724,NA15726,NA15731 nsv518151 7 35529385 35533670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695572 S 2026 0 1 "" esv993043 7 35574506 35574565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578762 S 3 0 1 "" HuRef nsv365452 7 35574528 35574587 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384030 M 24 "" nsv5697 7 35620664 35666518 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6121 S 9 0 1 HERPUD2 NA12156 nsv527371 7 35627201 35654895 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703803 S 2026 1 0 HERPUD2 dgv419n21 7 35679027 35732457 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519322,nsv523620 M 2026 2 0 HERPUD2 nsv5699 7 35687234 35737855 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3519,nssv8361 M 9 2 0 HERPUD2 NA12156,NA12878 esv1619444 7 35688397 35688461 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684158 S 2 0 1 HERPUD2 HuRef nsv887953 7 35769022 35905345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514433 S 6533 0 1 SEPT7 SP56004 dgv2074e1 7 35790751 36086963 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15778,esv278 M 271 0 0 SEPT7 NA19131 nsv887954 7 35806564 35832160 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515342 S 6533 0 1 SEPT7 SP56172 dgv7250n71 7 35806564 35895170 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887956,nsv887955 M 6533 0 2 SEPT7 SP50649,SP54792 esv2479660 7 35843515 35845041 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192720 S 1 0 1 SEPT7 NA18507 nsv469590 7 35861852 36046029 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649705 M 265 0 0 Samples from several populations that are part of the HapMap project. SEPT7 nsv830955 7 35964559 36103672 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446024,nssv1446023 M 95 2 0 "" nsv523442 7 35992311 36014705 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699198 S 2026 0 1 "" esv270332 7 36006722 36006807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513948 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv2365233 7 36059815 36060270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4550436 S 1 0 1 "" NA18507 esv267388 7 36218654 36218739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516713,essv2519251,essv2514113,essv2518825,essv2514885,essv2515003,essv2516396,essv2516095,essv2514480,essv2517678,essv2513614 M 157 11 0 Samples from several populations that are part of the HapMap project. EEPD1 NA07347,NA11881,NA11894,NA12043,NA12045,NA12234,NA12812,NA12814,NA12873,NA12874,NA12878 esv274025 7 36218654 36218739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581248 S 7 1 0 Samples from several populations that are part of the HapMap project. EEPD1 NA19240 esv1027321 7 36218691 36218691 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041938 S 2 1 0 EEPD1 HuRef nsv528312 7 36227249 36232437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704890 S 2026 0 1 EEPD1 nsv830956 7 36227805 36311113 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446025 S 95 0 1 EEPD1 nsv519219 7 36302284 36323186 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696709 S 2026 1 0 EEPD1 nsv525981 7 36311719 36313022 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702200 S 2026 0 1 "" esv1002216 7 36319197 36319281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571382 S 3 0 1 "" HuRef nsv365987 7 36340680 36343232 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384565 M 24 KIAA0895 nsv365653 7 36342855 36343232 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384231 M 24 KIAA0895 esv275305 7 36361501 36364855 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585712 S 1250 0 1 KIAA0895 esv270354 7 36400740 36401087 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498283,essv2497342,essv2494623,essv2497190,essv2497813,essv2508317,essv2499909,essv2504573,essv2507878,essv2512749,essv2508131,essv2497858,essv2503477,essv2512389,essv2496028,essv2502727,essv2503901 M 157 17 0 Samples from several populations that are part of the HapMap project. ANLN NA07037,NA18526,NA18545,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18577,NA18579,NA18945,NA18947,NA18949,NA18961,NA18965 nsv511959 7 36407457 36408727 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624501 S 1 0 1 ANLN 1 nsv521965 7 36412381 36420786 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694733 S 2026 0 1 ANLN nsv830957 7 36470155 36642148 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446026 S 95 1 0 AOAH nsv824064 7 36492056 36494114 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436714 S 31 0 1 "" NA18542 esv2610239 7 36492397 36493946 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340682 S 1 0 1 "" NA18507 esv1930825 7 36492790 36493347 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541431 S 1 0 1 "" NA18507 esv2613811 7 36541087 36541136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385136 S 1 0 1 AOAH NA18507 nsv366801 7 36541095 36541144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385379 M 24 AOAH nsv830958 7 36578436 36738033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446027 S 95 1 0 AOAH nsv464427 7 36583793 36798248 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540345 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AOAH HGDP01077 nsv5700 7 36610173 36634765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9708 S 9 1 0 AOAH NA18507 esv33783 7 36621200 36621617 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93192 S 51 1 0 AOAH 22170 nsv830960 7 36650512 36815810 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446028 S 95 0 1 AOAH nsv470199 7 36707536 36733208 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545488 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AOAH HGDP00866 nsv519057 7 36741602 36744391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696528 S 2026 0 1 "" nsv887957 7 36757479 36779118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585733 S 6533 0 1 "" IS37639 esv2512007 7 36758628 36760103 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275814 S 1 0 1 "" NA18507 nsv518997 7 36769488 36773906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696464 S 2026 0 1 "" esv22051 7 36791803 36792444 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16187 S 451 0 1 "" NA18502 nsv507383 7 36833626 36839626 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620374,nssv621871,nssv623003 M 4 3 0 "" NA10860,NA15510,NA18994 nsv366743 7 36845406 36845494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385321 M 24 "" nsv5701 7 36851013 36868505 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8362 S 9 0 1 ELMO1 NA12156 esv7418 7 36876693 36876757 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29859 S 1 1 0 ELMO1 SJK esv6168 7 36927198 36927298 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28609 S 1 1 0 ELMO1 SJK nsv5702 7 36947698 36978934 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4975 S 9 1 0 ELMO1 NA19129 nsv437544 7 37030082 37095220 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467425 S 60 0 1 Samples from several populations that are part of the HapMap project. ELMO1 NA19142 nsv5703 7 37060977 37072932 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8363 S 9 0 1 ELMO1 NA12156 dgv810n27 7 37109099 37111533 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464430,nsv464429 M 1557 0 2 ELMO1 HGDP00541,HGDP00546 nsv507384 7 37117740 37123740 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620375,nssv623004 M 4 2 0 ELMO1 NA15510,NA18994 nsv887958 7 37149073 37191760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562710,nssv1561776 M 6533 0 2 ELMO1 MS25223,MS25703 nsv824066 7 37183324 37183799 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428367 S 31 0 1 ELMO1 AK10 nsv507385 7 37297961 37303961 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617733,nssv621872 M 4 2 0 ELMO1 CHM,NA10860 esv1343363 7 37298871 37298871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4305841 S 2 1 0 ELMO1 HuRef esv1547828 7 37299079 37299206 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981922 S 2 0 1 ELMO1 HuRef nsv830961 7 37302819 37482190 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446030 S 95 1 0 ELMO1 dgv420n21 7 37341035 37346100 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525516,nsv523409 M 2026 0 2 ELMO1 nsv523218 7 37403500 37405121 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698940 S 2026 0 1 ELMO1 nsv830962 7 37420282 37597743 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446031 S 95 1 0 ELMO1 nsv818496 7 37433089 37433495 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416167 S 112 0 1 ELMO1 NA12891 nsv442039 7 37433093 37434593 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ELMO1 esv8354 7 37443794 37444148 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30795 S 1 0 1 ELMO1 SJK nsv366178 7 37443803 37444129 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384756 M 24 ELMO1 dgv2075e1 7 37565238 37825085 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14475,esv758 M 271 0 0 GPR141 NA19201 nsv510076 7 37572691 37578691 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624025 S 4 0 1 "" NA18994 nsv5704 7 37602627 37648034 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6122 S 9 0 1 "" NA12156 nsv366017 7 37652396 37652396 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384595 M 24 "" essv13275 7 37678050 37735131 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19201 nsv887959 7 37693476 37791315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535570 S 6533 0 1 GPR141 MS12266 nsv526136 7 37702689 37827000 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702391 S 2026 0 1 GPR141 nsv8073 7 37753332 37756703 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15140 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv887960 7 37791315 37844220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572937,nssv1567676 M 6533 0 2 "" IS31137,IS33196 esv2450831 7 37793699 37800393 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356109 S 1 0 1 "" NA18507 esv2593780 7 37802661 37803602 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168579 S 1 1 0 "" NA18507 esv268416 7 37803143 37803471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565783,essv2540953,essv2571807,essv2546189,essv2521130,essv2526116,essv2536371,essv2522854,essv2543862,essv2556683,essv2545424,essv2577260,essv2570438,essv2548422,essv2521729,essv2576815,essv2550702,essv2550264,essv2535171,essv2554186,essv2544322,essv2552047,essv2520320,essv2547577,essv2529089,essv2558613,essv2564532,essv2577993,essv2553678,essv2559680,essv2565249,essv2576467,essv2519992,essv2563949,essv2554868,essv2530815,essv2562135,essv2537687,essv2528313,essv2546925,essv2520991,essv2557573,essv2557045,essv2552324,essv2551715,essv2532194,essv2562754,essv2569299,essv2550100,essv2558808,essv2536882,essv2538866,essv2569775,essv2527175,essv2561565,essv2562822,essv2523916,essv2553053,essv2541104,essv2538241,essv2542674,essv2540626,essv2524377,essv2565104,essv2534869,essv2561085,essv2539694,essv2549318,essv2519884,essv2560083,essv2522290,essv2566083,essv2532581,essv2567785,essv2528961,essv2567568,essv2541749,essv2570118,essv2563746,essv2553193,essv2535879,essv2572445,essv2559152,essv2566978,essv2542106,essv2551102,essv2569071,essv2543757,essv2556356,essv2527764,essv2562214,essv2533978,essv2578271,essv2573224,essv2555348,essv2533672,essv2555621,essv2567030,essv2566559,essv2529940,essv2527726,essv2557724,essv2555827,essv2534427,essv2531342,essv2573738,essv2543138,essv2526897,essv2529429,essv2575467,essv2538838,essv2526466,essv2560753,essv2524013,essv2560942,essv2574913,essv2530417,essv2568783,essv2560370,essv2549858,essv2571120,essv2546036,essv2574489,essv2551384,essv2536147,essv2537808,essv2548898,essv2533415,essv2547642,essv2524924,essv2563333,essv2558076 M 157 132 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18965,NA19005,NA19093,NA19099,NA19108,NA19114,NA19116,NA19129,NA19137,NA19138,NA19141,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273849 7 37803143 37803471 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582029,essv2582751,essv2582815,essv2583930 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv997301 7 37803160 37803160 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579295 S 3 1 0 "" HuRef nsv365973 7 37803175 37803175 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384551 M 24 "" esv1359391 7 37803176 37803176 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863499 S 2 1 0 "" HuRef nsv8074 7 37831865 38176612 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13871,nssv15170,nssv15017,nssv17233,nssv16178,nssv15809,nssv14844 M 31 0 7 Samples from several populations that are part of the HapMap project. EPDR1,SFRP4,TXNDC3 NA12155,NA12872,NA18504,NA18563,NA18853,NA18975,NA19173 nsv824067 7 37839106 37839566 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422676 S 31 0 1 "" NA18552 nsv887961 7 37848842 37889114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535771 S 6533 1 0 TXNDC3 MS12466 esv2436581 7 37854047 37854218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227867 S 1 0 1 "" NA18507 esv24163 7 37897549 37903226 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15106 S 451 2 0 TXNDC3 NA18858,NA18916 esv2589907 7 37964524 37966223 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211341 S 1 0 1 "" NA18507 esv2270289 7 37964842 37965543 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903281 S 1 0 1 "" NA18507 esv3073 7 37964910 37965450 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25514 S 1 0 1 Single Asian sample YH "" YH esv1005283 7 37965035 37965349 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578233 S 3 0 1 "" HuRef esv7131 7 37965044 37965367 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29572 S 1 0 1 "" SJK nsv510077 7 38005315 38011315 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622133,nssv624026,nssv618258 M 4 0 3 "" CHM,NA10860,NA18994 nsv887962 7 38059758 38169866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564870 S 6533 0 1 "" IS30311 nsv525236 7 38071558 38090192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701326 S 2026 0 1 "" esv1011943 7 38130642 38130642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702917 S 2 1 0 "" HuRef dgv89n68 7 38139513 38357043 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv830963,nsv830964 M 95 8 0 LOC100506776,STARD3NL,TARP esv271902 7 38175707 38176041 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565864,essv2556648,essv2545297,essv2577446,essv2576559,essv2550283,essv2535247,essv2547206,essv2564593,essv2553765,essv2559692,essv2576211,essv2537429,essv2546655,essv2540085,essv2551888,essv2532250,essv2523550,essv2540505,essv2524709,essv2564813,essv2534631,essv2561100,essv2539829,essv2549197,essv2519540,essv2522300,essv2566190,essv2530972,essv2532517,essv2567541,essv2541768,essv2572346,essv2542100,essv2556256,essv2528007,essv2562337,essv2534115,essv2578349,essv2572967,essv2533487,essv2527678,essv2576981,essv2571916,essv2525626,essv2524112,essv2530272,essv2568529,essv2549915,essv2536195,essv2537908,essv2554713 M 157 52 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA11829,NA11994,NA12003,NA12043,NA12154,NA12234,NA12249,NA12717,NA12751,NA12763,NA12776,NA12814,NA12878,NA12892,NA18489,NA18504,NA18505,NA18537,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18582,NA18592,NA18609,NA18856,NA18871,NA18907,NA18909,NA18916,NA18940,NA18942,NA18944,NA18952,NA18970,NA18973,NA18980,NA19129,NA19141,NA19147,NA19225 esv273726 7 38175710 38175988 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584076,essv2583813 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv2076e1 7 38185228 38489980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22939,esv699 M 271 0 0 AMPH,LOC100506776,STARD3NL,TARP NA07357 esv32671 7 38199337 38199924 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92903 S 51 0 1 STARD3NL 21939 esv1010248 7 38229844 38236734 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563526 S 3 0 1 STARD3NL HuRef esv29985 7 38234920 38325253 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84224 S 2 0 1 STARD3NL,TARP HuRef esv1000823 7 38238148 38356645 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564960 S 3 0 1 LOC100506776,TARP HuRef nsv464431 7 38239830 38328150 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540349 S 1557 0 1 TARP NINDS_119 nsv5705 7 38242792 38280646 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8364 S 9 0 1 TARP NA12156 nsv8075 7 38248764 38254017 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15047 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 esv2108072 7 38249461 38269418 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593109 S 1 0 1 TARP NA18507 nsv515044 7 38249988 38253436 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627045 S 1414 0 0 "" esv22812 7 38251784 38277712 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17064 S 451 1 0 TARP NA07037 esv1758012 7 38251834 38251834 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797198 S 2 1 0 "" HuRef nsv8076 7 38254573 38272965 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15067,nssv15513,nssv14945 M 31 3 0 Samples from several populations that are part of the HapMap project. TARP NA07048,NA10847,NA11830 esv33146 7 38254573 38372721 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101519,essv97494,essv100698,essv96837,essv100953,essv95189,essv98176,essv94683,essv93980,essv94442,essv95656,essv95427,essv93140,essv95398,essv101738,essv95862,essv92791,essv93687,essv99903,essv96012,essv93592,essv93409,essv99635,essv92631,essv98118,essv99265,essv97678,essv100255,essv100376,essv99367,essv98356,essv96308,essv94184 M 51 1 32 LOC100506776,TARP 21603,21616,21656,21659,21693,21721,21772,21791,21802,21808,21841,21847,21863,21872,21909,21911,21944,21972,22086,22127,22128,22170,22217,22233,22259,22275,22278,22286,22300,22335,22352,22371,22394 nsv887963 7 38254795 38324752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536357 S 6533 0 1 TARP MS12727 dgv1100n67 7 38254825 38347277 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824068,nsv824072,nsv824070,nsv824071,nsv824073,nsv824069 M 31 0 6 TARP AK12,AK14,AK2,AK4,AK6,AK8 nsv820039 7 38256040 38377747 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418777 S 2 0 1 LOC100506776,TARP AK1 nsv436906 7 38258330 38269700 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466337 S 2 1 0 Samples from several populations that are part of the HapMap project. TARP NA18505 nsv511960 7 38258622 38276408 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624502 S 1 0 1 TARP 1 esv6973 7 38259391 38323153 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29414 S 1 0 1 TARP SJK nsv515045 7 38259744 38260520 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627046 S 1414 0 0 "" nsv824074 7 38260261 38371133 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431392 S 31 0 1 LOC100506776,TARP AK18 essv20735 7 38260604 38384690 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100506776,TARP NA07357 esv2534366 7 38264272 38285387 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321250 S 1 0 1 TARP NA18507 nsv824075 7 38264686 38313769 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428368 S 31 0 1 TARP AK10 esv34699 7 38277585 38353316 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987763,essv6980317 M 771 0 1 LOC100506776,TARP NA07034 esv29946 7 38281765 38318969 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84185 S 3 0 1 "" WATSON nsv464432 7 38285115 38302045 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540350 S 1557 0 1 "" 1787431197_A nsv818497 7 38285115 38346971 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418005 S 112 0 1 "" NA07357 nsv519863 7 38285115 38384081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675803,nssv689834,nssv676287,nssv678359,nssv685970,nssv662519,nssv681291,nssv686988,nssv659151,nssv701170,nssv702948,nssv671558,nssv697651,nssv701002,nssv680494,nssv704497,nssv662520 M 2026 0 17 LOC100506776 nsv464433 7 38288178 38346971 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540351 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00125 nsv821692 7 38292638 38308037 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421330 S 31 0 1 "" nsv464434 7 38297796 38330091 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540352 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00417 nsv830965 7 38317139 38487572 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446041 S 95 1 0 AMPH,LOC100506776 nsv437984 7 38320525 38337999 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468901,nssv468900 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07034,NA07048 nsv824077 7 38323713 38361990 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429888 S 31 0 1 LOC100506776 AK14 esv2491668 7 38326074 38326928 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335654 S 1 1 0 "" NA18507 nsv8077 7 38337371 38340037 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15418 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv5706 7 38338114 38373182 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv621 S 9 1 0 LOC100506776 NA19240 nsv8078 7 38346381 38372720 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18270,nssv15165,nssv15839,nssv14975,nssv14320,nssv14029,nssv15145,nssv15478,nssv14792,nssv17783,nssv17263,nssv16962,nssv15408 M 31 0 13 Samples from several populations that are part of the HapMap project. LOC100506776 NA07029,NA10847,NA12802,NA18502,NA18504,NA18537,NA18564,NA18572,NA18972,NA18980,NA19144,NA19173,NA19221 nsv5707 7 38347509 38373707 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3520,nssv2641 M 9 0 2 LOC100506776 NA12878,NA18555 dgv1101n67 7 38348803 38361990 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824079,nsv824078 M 31 0 4 LOC100506776 NA18547,NA18592,NA18951,NA18969 esv21728 7 38351034 38374286 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17473,esv12437,esv17239 M 451 1 7 LOC100506776 NA11894,NA11931,NA12749,NA12776,NA18502,NA18505,NA18858,NA18916 esv9133 7 38351703 38365173 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31574 S 1 0 1 LOC100506776 SJK nsv435843 7 38352935 38364112 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466338 S 2 0 1 LOC100506776 NA15510 nsv436561 7 38358890 38365714 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466340 S 2 0 1 Samples from several populations that are part of the HapMap project. LOC100506776 NA18505 nsv514414 7 38359852 38363908 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627868 S 1414 1 0 LOC100506776 nsv830966 7 38360188 38569078 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446042 S 95 1 0 AMPH,LOC100506776 nsv887964 7 38423669 38467590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552125,nssv1557464,nssv1578560,nssv1599033,nssv1582743,nssv1553201,nssv1553937,nssv1558388,nssv1553756,nssv1586787 M 6533 0 10 AMPH IS34805,IS36131,IS37979,IS40890,MS19226,MS19808,MS20286,MS20440,MS22705,MS23257 esv273955 7 38444677 38444769 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582214,essv2582563,essv2583121,essv2584038,essv2584446,essv2583652 M 7 6 0 Samples from several populations that are part of the HapMap project. AMPH NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv526627 7 38463820 38469548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702949 S 2026 0 1 AMPH esv4081 7 38474889 38475460 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26522 S 1 0 1 Single Asian sample YH AMPH YH nsv366413 7 38474985 38475312 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384991 M 24 AMPH esv9560 7 38474991 38475311 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32001 S 1 0 1 AMPH SJK nsv8079 7 38477319 38480293 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14059 S 31 0 1 Samples from several populations that are part of the HapMap project. AMPH NA18572 esv5062 7 38479482 38479958 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27503 S 1 0 1 Single Asian sample YH AMPH YH esv9559 7 38479530 38479899 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32000 S 1 0 1 AMPH SJK esv1963446 7 38547222 38547658 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837641 S 1 0 1 AMPH NA18507 esv1006794 7 38547412 38547462 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575460 S 3 0 1 AMPH HuRef nsv365971 7 38547413 38547463 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384549 M 24 AMPH esv1768159 7 38547414 38547465 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630864 S 2 0 1 AMPH HuRef esv6390 7 38548208 38548280 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28831 S 1 1 0 AMPH SJK esv28274 7 38592485 38593041 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16307 S 451 1 0 AMPH NA18505 nsv366791 7 38616424 38616424 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385369 M 24 AMPH esv1003148 7 38654334 38658258 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563937 S 3 1 0 "" HuRef nsv887965 7 38672909 38759768 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531771 S 6533 1 0 FAM183B,VPS41 MS10638 esv268703 7 38726207 38726545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522759,essv2543930,essv2531769,essv2550599,essv2547341,essv2576286,essv2564037,essv2537516,essv2528383,essv2520915,essv2557246,essv2551841,essv2532061,essv2578823,essv2550122,essv2538870,essv2544999,essv2562986,essv2523935,essv2553068,essv2542912,essv2540550,essv2524588,essv2564827,essv2534702,essv2539901,essv2549279,essv2519897,essv2566335,essv2530962,essv2532712,essv2567866,essv2567440,essv2570005,essv2563634,essv2535802,essv2572312,essv2559036,essv2566994,essv2542002,essv2528107,essv2555479,essv2555560,essv2566659,essv2522473,essv2526881,essv2529585,essv2575267,essv2526707,essv2574624,essv2530437,essv2568544,essv2545208,essv2549658,essv2545862,essv2574064,essv2537732,essv2532962,essv2525143 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07357,NA11931,NA11992,NA12006,NA12155,NA12717,NA12814,NA12828,NA12878,NA12891,NA18498,NA18501,NA18504,NA18505,NA18510,NA18511,NA18519,NA18526,NA18532,NA18537,NA18542,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18603,NA18608,NA18609,NA18638,NA18853,NA18856,NA18907,NA18943,NA18945,NA18948,NA18960,NA19005,NA19093,NA19102,NA19114,NA19138,NA19141,NA19147,NA19172,NA19225,NA19239,NA19240 esv272919 7 38726207 38726545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581707,essv2583087 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv887966 7 38801560 38900467 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520516 S 6533 0 1 VPS41 SP51111 nsv830967 7 38880362 39035778 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446043 S 95 0 1 POU6F2,VPS41 esv2617167 7 38958102 38959468 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266154 S 1 0 1 "" NA18507 nsv887967 7 38975832 39057223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591877 S 6533 0 1 POU6F2 IS39081 esv1455501 7 39021710 39021765 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877351 S 2 0 1 POU6F2 HuRef esv275166 7 39043922 39048019 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585913 S 1250 0 1 POU6F2 esv1447703 7 39046238 39046238 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3607193 S 2 1 0 POU6F2 HuRef nsv887968 7 39089690 39165485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575336 S 6533 0 1 POU6F2 IS33712 nsv428163 7 39094056 39250068 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450924,nssv450925 M 62 0 2 POU6F2 NA19113,NA19189 nsv830968 7 39094056 39250068 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446045,nssv1446044 M 95 2 0 POU6F2 nsv887969 7 39231954 39358400 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522478 S 6533 0 1 POU6F2 SP53147 esv2236589 7 39346680 39347120 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619529 S 1 0 1 POU6F2 NA18507 esv1002601 7 39346867 39346931 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585327 S 3 0 1 POU6F2 HuRef nsv366945 7 39346869 39346933 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385523 M 24 POU6F2 esv1008050 7 39353791 39354407 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583290 S 3 0 1 POU6F2 HuRef nsv820822 7 39512689 39519244 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420653 S 1 0 1 "" NA10851 esv24613 7 39512840 39518302 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11912 S 451 31 0 "" NA07037,NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819203 7 39513318 39518739 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419706 S 2 1 0 "" AK1 nsv887970 7 39554437 39654677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588204 S 6533 0 1 C7orf36,LOC646999,RALA IS38176 nsv365737 7 39558583 39558896 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384315 M 24 "" esv2448116 7 39563060 39564512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263133 S 1 0 1 "" NA18507 dgv37e194 7 39563717 39564364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2004805,esv2417144 M 1 0 1 "" NA18507 esv269794 7 39570928 39571013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514160 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv508451 7 39627309 39753747 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618807 S 4 0 1 LINC00265,RALA NA10860 dgv7251n71 7 39628793 39712300 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887972,nsv887971 M 6533 2 0 RALA MS12281,MS16206 esv272039 7 39716196 39716544 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516630,essv2514804,essv2515159,essv2516618,essv2515526,essv2517915,essv2515873,essv2514261,essv2517880,essv2516865,essv2515253,essv2518906,essv2518425,essv2513697 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA12234,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12892,NA19238,NA19239,NA19240 esv273034 7 39716201 39716539 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583932,essv2583699 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 dgv7252n71 7 39739179 40090662 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887973,nsv887975 M 6533 2 0 CDK13,LINC00265 MS12281,MS16206 nsv5708 7 39780855 39822060 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3521 S 9 0 1 LINC00265 NA12878 nsv499730 7 39786622 39791732 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586020 S 9 0 1 LINC00265 nsv887974 7 39793925 39923354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550300 S 6533 0 1 LINC00265 MS18400 nsv5710 7 39797720 39832984 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv622 S 9 1 0 LINC00265 NA19240 esv1003221 7 39798314 39800108 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586364 S 3 0 1 LINC00265 HuRef esv22190 7 39798743 39800228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13112 S 451 0 4 LINC00265 NA07037,NA11993,NA12156,NA18909 dgv7253n71 7 39841511 39985218 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887977,nsv887976 M 6533 0 2 CDK13 IS39011,MS20888 nsv464436 7 39985218 40099569 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540353 S 1557 1 0 CDK13 1780854393_A nsv521293 7 39987569 39994009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697896 S 2026 0 1 CDK13 nsv518849 7 39987569 39997013 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696302 S 2026 0 1 CDK13 nsv887978 7 39997013 40090662 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503653 S 6533 0 1 CDK13 SP52093 esv25464 7 40018399 40030185 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13285 S 451 0 1 CDK13 NA18907 dgv2077e1 7 40026705 40236108 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1009,essv6430 M 271 0 0 C7orf10,C7orf11,CDK13 NA18592 dgv7254n71 7 40033546 40169881 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887981,nsv887980,nsv887979 M 6533 6 0 C7orf10,C7orf11,CDK13 MS22088,SP51477,SP53240,SP80953,SP81211,SP81501 esv34547 7 40043557 40197490 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986919,essv6979648,essv6979649,essv6986920 M 771 1 0 C7orf10,C7orf11,CDK13 NA18592 nsv824080 7 40043614 40165169 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433496 S 31 1 0 C7orf10,C7orf11,CDK13 NA18592 esv273555 7 40051871 40051956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581186 S 7 1 0 Samples from several populations that are part of the HapMap project. CDK13 NA19240 nsv464437 7 40061166 40163693 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540354 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C7orf10,C7orf11,CDK13 HGDP00778 nsv887982 7 40065312 40160060 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519566 S 6533 1 0 C7orf10,C7orf11,CDK13 SP81091 dgv7255n71 7 40178088 40250691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv887983,nsv887984 M 6533 0 2 C7orf10 MS18959,MS21218 nsv887985 7 40232035 40553199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590823 S 6533 0 1 C7orf10 IS38592 nsv887986 7 40277907 40391665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587809 S 6533 0 1 C7orf10 IS38115 nsv520748 7 40299043 40391665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697588 S 2026 0 1 C7orf10 nsv824081 7 40330506 40335263 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430655 S 31 0 1 C7orf10 AK16 nsv520374 7 40339118 40393525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697379 S 2026 0 1 C7orf10 esv34484 7 40349684 40455608 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979054,essv6979055,essv6986785,essv6986784 M 771 1 0 C7orf10 NA12872 dgv2078e1 7 40350555 40463803 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1252,essv19321 M 271 0 0 C7orf10 NA12872 nsv8081 7 40359753 40452764 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv13901 S 31 1 0 Samples from several populations that are part of the HapMap project. C7orf10 NA12872 esv1003835 7 40379421 40379421 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582518 S 3 1 0 C7orf10 HuRef esv1735710 7 40379496 40379496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637901 S 2 1 0 C7orf10 HuRef nsv830969 7 40389101 40548914 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446046 S 95 1 0 C7orf10 nsv5711 7 40457044 40479513 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8365 S 9 0 1 C7orf10 NA12156 nsv887987 7 40471907 40715175 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579760 S 6533 0 1 C7orf10 IS35179 nsv830971 7 40489600 40666697 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446048,nssv1446047 M 95 1 1 C7orf10 nsv5712 7 40551592 40585868 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3522 S 9 1 0 C7orf10 NA12878 nsv887988 7 40652336 40749097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578749 S 6533 0 1 C7orf10 IS34896 nsv509194 7 40694989 40722652 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618064 S 4 1 0 C7orf10 CHM nsv830972 7 40781234 40912442 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446049 S 95 0 1 C7orf10 nsv830973 7 40782944 40818119 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446050 S 95 0 1 C7orf10 nsv7394 7 40813100 40846675 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9438 S 9 0 0 C7orf10 NA18517 nsv5713 7 40834003 40849632 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv623 S 9 1 0 C7orf10 NA19240 nsv513673 7 40843765 40846443 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626925 S 1 0 0 C7orf10 1 nsv435962 7 40844335 40846241 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466341 S 2 0 0 C7orf10 NA15510 esv2581938 7 40845882 40846995 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164416 S 1 0 0 C7orf10 NA18507 nsv513674 7 40845929 40850168 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626926 S 1 0 0 C7orf10 1 esv7091 7 40846159 40846782 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29532 S 1 0 0 C7orf10 SJK esv259441 7 40921768 40922204 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393707 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv259806 7 40921774 40922226 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396762,essv2400026,essv2396089,essv2398585,essv2398475,essv2396037,essv2400735,essv2396675,essv2399604,essv2395623,essv2397635,essv2399902,essv2394983,essv2398566,essv2399335,essv2396068,essv2394952,essv2395505,essv2398982,essv2394679,essv2397903,essv2398215,essv2400683,essv2399991,essv2397137,essv2396413,essv2398119,essv2398686,essv2395947,essv2394505 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10847,NA11894,NA12003,NA12717,NA12750,NA12761,NA18501,NA18502,NA18504,NA18511,NA18516,NA18522,NA18537,NA18545,NA18563,NA18605,NA18870,NA18907,NA18909,NA18912,NA18940,NA18951,NA19138,NA19172,NA19190,NA19238,NA19257 nsv5714 7 40992547 41026338 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8366 S 9 0 1 "" NA12156 nsv887989 7 41091972 41303569 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556744 S 6533 0 1 "" MS22146 nsv830974 7 41356101 41543676 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446052 S 95 1 0 "" nsv428164 7 41361949 41518979 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450928,nssv450930,nssv450929 M 62 0 3 "" NA19113,NA19181,NA19189 nsv830975 7 41363542 41417089 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446053,nssv1446054 M 95 0 2 "" nsv5715 7 41414546 41459018 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2642 S 9 0 1 "" NA18555 esv2070833 7 41423583 41423996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833683 S 1 0 1 "" NA18507 esv2433212 7 41463476 41464608 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253517 S 1 1 0 "" NA18507 nsv5716 7 41803002 41836335 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2643 S 9 1 0 "" NA18555 nsv5717 7 41956510 41989859 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2645 S 9 1 0 GLI3 NA18555 nsv887990 7 41997829 42040487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553831 S 6533 0 1 GLI3 MS20346 nsv464440 7 42088078 42118124 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540356 S 1557 0 1 GLI3 1798860010_A esv275491 7 42104436 42109053 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585414 S 1250 0 1 GLI3 nsv830976 7 42109926 42148577 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446055 S 95 1 0 GLI3 esv272514 7 42139574 42139659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581528 S 7 1 0 Samples from several populations that are part of the HapMap project. GLI3 NA12878 dgv7256n71 7 42221026 42602977 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv887991,nsv887992 M 6533 3 0 GLI3 SP57580,SP57670,SP81414 nsv887993 7 42258001 42291076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572938 S 6533 0 1 "" IS33196 nsv525387 7 42272849 42285377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701509 S 2026 0 1 "" nsv830977 7 42373928 42555802 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446056,nssv1446057 M 95 1 1 "" esv1010356 7 42415854 42415930 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580543 S 3 0 1 "" HuRef esv1440113 7 42415854 42415931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877148 S 2 0 1 "" HuRef nsv830978 7 42445607 42597215 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446058 S 95 1 0 "" nsv525198 7 42465377 42488923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701279 S 2026 0 1 "" nsv5718 7 42478128 42514999 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3523,nssv8367,nssv4976 M 9 3 0 "" NA12156,NA12878,NA19129 esv270735 7 42496369 42496454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514178,essv2516350,essv2517824,essv2516290,essv2516901,essv2513780,essv2518935,essv2518396 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12814,NA12878,NA12891,NA12892,NA19143,NA19239,NA19240 esv273540 7 42496373 42502456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581842,essv2582691,essv2584460,essv2583757 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 nsv515778 7 42510244 42513525 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664747,nssv662477 M 2026 0 2 "" esv2591598 7 42515813 42517428 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365012 S 1 0 1 "" NA18507 esv2334040 7 42516039 42516750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4745746 S 1 0 1 "" NA18507 esv4373 7 42516176 42516637 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26814 S 1 0 1 Single Asian sample YH "" YH esv7373 7 42516217 42516544 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29814 S 1 0 1 "" SJK esv1788468 7 42516239 42516561 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043904 S 2 0 1 "" HuRef esv274360 7 42529026 42529317 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580926 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269872 7 42529042 42529294 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496740,essv2494283,essv2496479,essv2501127,essv2512023 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18502,NA18510,NA18516,NA19238 esv2531294 7 42546161 42547219 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207290 S 1 1 0 "" NA18507 esv274090 7 42546479 42546835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580025,essv2578987,essv2579462 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 esv269839 7 42546495 42546834 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536464,essv2577476,essv2578064,essv2565426,essv2547106,essv2520910,essv2556979,essv2552661,essv2551874,essv2569560,essv2558788,essv2539127,essv2527109,essv2561596,essv2566724,essv2541924,essv2551174,essv2543689,essv2556374,essv2562398,essv2526746,essv2538587,essv2526667,essv2560664,essv2524248,essv2574832,essv2530381,essv2572916,essv2549646,essv2545832,essv2574411,essv2551642,essv2547656 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11920,NA12043,NA12761,NA12812,NA12892,NA18498,NA18501,NA18502,NA18504,NA18508,NA18516,NA18519,NA18522,NA18523,NA18853,NA18856,NA18858,NA18870,NA18871,NA18909,NA19005,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19225,NA19239,NA19240,NA19257 esv271850 7 42570187 42570528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504005 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv2558708 7 42570511 42572271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199968 S 1 0 1 "" NA18507 esv2371608 7 42570971 42571697 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772187 S 1 0 1 "" NA18507 esv4997 7 42571107 42571617 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27438 S 1 0 1 Single Asian sample YH "" YH esv1006733 7 42571156 42571497 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575784 S 3 0 1 "" HuRef esv1654334 7 42571162 42571504 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012731 S 2 0 1 "" HuRef esv7667 7 42571166 42571493 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30108 S 1 0 1 "" SJK esv269100 7 42577567 42577652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514184 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv270599 7 42614150 42614481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565660,essv2575923,essv2540973,essv2546571,essv2521268,essv2526260,essv2542465,essv2536374,essv2522828,essv2570917,essv2556694,essv2545336,essv2523175,essv2531764,essv2570554,essv2548407,essv2521613,essv2576689,essv2535029,essv2554166,essv2544346,essv2551956,essv2520485,essv2547363,essv2529104,essv2558366,essv2564550,essv2577905,essv2553658,essv2559714,essv2565324,essv2520172,essv2564120,essv2561987,essv2537667,essv2528638,essv2546977,essv2520851,essv2557367,essv2551739,essv2578820,essv2558898,essv2536992,essv2544947,essv2562844,essv2523572,essv2552758,essv2541369,essv2538185,essv2542898,essv2540250,essv2524477,essv2565158,essv2534528,essv2561265,essv2549239,essv2519911,essv2560126,essv2522058,essv2566090,essv2531156,essv2532550,essv2567755,essv2528931,essv2541808,essv2570308,essv2563812,essv2553138,essv2535596,essv2572589,essv2558996,essv2568910,essv2543473,essv2556264,essv2527802,essv2534104,essv2578254,essv2533788,essv2555734,essv2567102,essv2566420,essv2529899,essv2573806,essv2527689,essv2557644,essv2555815,essv2534341,essv2522380,essv2531466,essv2573471,essv2543262,essv2572075,essv2525818,essv2529555,essv2575724,essv2575011,essv2574808,essv2568503,essv2549732,essv2571342,essv2551291,essv2536207,essv2548964,essv2533120,essv2554571,essv2548009,essv2525088,essv2563290 M 157 108 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11994,NA12003,NA12004,NA12006,NA12044,NA12045,NA12144,NA12154,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18504,NA18510,NA18516,NA18517,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18861,NA18870,NA18871,NA18907,NA18916,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19099,NA19102,NA19138,NA19147,NA19225,NA19238,NA19257 esv273347 7 42614150 42614481 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581816,essv2583023,essv2584114,essv2584857,essv2583400 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1281239 7 42614185 42614185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998947 S 2 1 0 "" HuRef nsv5719 7 42687851 42710801 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10540 S 9 1 0 "" NA18956 esv1652286 7 42740225 42740225 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843197 S 2 1 0 "" HuRef nsv887994 7 42759115 42851486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590914 S 6533 0 1 "" IS38603 esv27270 7 42797079 42830746 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18671 S 451 1 0 "" NA18511 nsv830979 7 42813107 42993136 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446059 S 95 1 0 C7orf25,MRPL32,PSMA2 esv269108 7 43041376 43041781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503333,essv2497830,essv2500615,essv2507613,essv2512688,essv2508202,essv2508668 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18555,NA18571,NA18576,NA18577,NA18579,NA18592 nsv527510 7 43044375 43086455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703964 S 2026 0 1 "" esv274935 7 43049474 43051779 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585407 S 1250 0 1 "" nsv521052 7 43049770 43053158 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697755 S 2026 0 1 "" nsv887995 7 43185171 43234995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528024 S 6533 1 0 HECW1 SP81107 nsv519952 7 43204108 43215151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697143 S 2026 0 1 HECW1 nsv515543 7 43210244 43215151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659694,nssv663865 M 2026 0 2 HECW1 nsv510956 7 43288776 43332315 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621597 S 4 0 0 HECW1 NA15510 esv2597315 7 43380006 43381369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301150 S 1 0 1 HECW1 NA18507 esv2040759 7 43380472 43381093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847043 S 1 0 1 HECW1 NA18507 esv4590 7 43380611 43381051 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27031 S 1 0 1 Single Asian sample YH HECW1 YH nsv521089 7 43381531 43390637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687061,nssv681774,nssv689106 M 2026 0 3 HECW1 nsv519592 7 43561925 43564747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696940 S 2026 0 1 HECW1 nsv518728 7 43561925 43620284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696178 S 2026 0 1 HECW1,STK17A nsv510078 7 43566570 43572570 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621305 S 4 0 1 HECW1 NA15510 esv2637319 7 43586125 43587598 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180223 S 1 0 1 "" NA18507 esv22147 7 43591429 43598530 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19882 S 451 0 4 STK17A NA11931,NA12004,NA12239,NA12828 nsv819718 7 43630795 43631156 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418904 S 2 0 1 STK17A AK1 esv997089 7 43636138 43647565 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565020 S 3 0 1 C7orf44 HuRef nsv464441 7 43658241 43793939 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540357 S 1557 0 1 BLVRA,C7orf44 1780862066_A nsv5721 7 43716657 43742657 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv624 S 9 1 0 C7orf44 NA19240 nsv428165 7 43861952 44179084 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv450954,nssv450936,nssv450950,nssv450956,nssv450939,nssv450952,nssv450941,nssv450937,nssv450948,nssv450947,nssv450943,nssv450940,nssv450946,nssv450955,nssv450957,nssv450949,nssv450945,nssv450944,nssv450951,nssv450935,nssv450938 M 62 21 0 AEBP1,DBNL,FLJ35390,GCK,MIR4649,MRPS24,MYL7,PGAM2,POLD2,POLM,POLR2J4,RASA4P,SPDYE1,UBE2D4,URGCP,URGCP-MRPS24 HGDP00449,HGDP00450,HGDP00463,HGDP00467,HGDP00472,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19108,NA19147,NA19181,NA19189,NA19225,NA19257 nsv830980 7 43872122 44084663 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446065,nssv1446061,nssv1446060,nssv1446064,nssv1446063,nssv1446066,nssv1446067 M 95 0 7 DBNL,FLJ35390,MRPS24,PGAM2,POLM,POLR2J4,RASA4P,SPDYE1,UBE2D4,URGCP,URGCP-MRPS24 dgv2079e1 7 43919064 44023316 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8817,essv16627,essv1495,essv3030,essv20237,essv6664,essv10562,essv10031,essv12201,essv16129,essv15082,essv9887,essv3280,essv22055,essv16079,essv21726,essv15546,essv16437,essv20088,essv10995,essv17029,essv21539,essv14689,essv19386,essv16850,essv6916,essv23788,essv21065,esv428,essv6139,essv9031,essv8118,essv8342,essv14103,essv17180,essv15322,essv9791,essv19548,essv15652,essv9687,essv11210,essv16285,essv17962,essv3352,essv15758,essv11689,essv1185,essv12678,essv12480,essv23428,essv15822,essv131,essv9128 M 271 0 0 POLR2J4,SPDYE1,UBE2D4,URGCP NA06991,NA07048,NA10854,NA11840,NA12003,NA12144,NA12154,NA12248,NA12763,NA12864,NA12873,NA18500,NA18501,NA18508,NA18532,NA18605,NA18608,NA18858,NA18860,NA18861,NA18862,NA18863,NA18912,NA18913,NA18945,NA18951,NA18968,NA18972,NA18980,NA18981,NA19099,NA19100,NA19101,NA19129,NA19131,NA19132,NA19137,NA19139,NA19142,NA19143,NA19144,NA19145,NA19154,NA19159,NA19161,NA19171,NA19204,NA19205,NA19206,NA19207,NA19223,NA19240 nsv8082 7 43962280 44213353 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17984,nssv15200,nssv15869,nssv16992,nssv17813,nssv15508,nssv15077,nssv16208,nssv15175,nssv14440,nssv14380,nssv15195,nssv14119,nssv17361,nssv14572,nssv15127,nssv17293,nssv18300,nssv16141,nssv14350,nssv17307,nssv13931 M 31 20 0 Samples from several populations that are part of the HapMap project. AEBP1,DBNL,FLJ35390,GCK,MIR4649,MYL7,PGAM2,POLD2,POLM,POLR2J4,RASA4P,SPDYE1,YKT6 NA11830,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv366185 7 43963371 43964914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384763 M 24 POLR2J4 esv27186 7 43967223 44048021 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9924 S 451 32 0 FLJ35390,POLR2J4,RASA4P,SPDYE1 NA06985,NA07037,NA07045,NA11894,NA11995,NA12006,NA12239,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33894 7 43983706 44020882 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92851,essv100292 M 51 0 2 POLR2J4,SPDYE1 21939,22300 nsv887996 7 44012214 44169531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530578,nssv1546634 M 6533 0 2 AEBP1,DBNL,FLJ35390,GCK,MIR4649,MYL7,PGAM2,POLD2,POLM,POLR2J4,RASA4P,SPDYE1 MS10311,MS17208 nsv470210 7 44052060 44145353 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545499 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AEBP1,DBNL,MIR4649,MYL7,PGAM2,POLD2,POLM HGDP00789 nsv830983 7 44074966 44207748 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446072,nssv1446079,nssv1446071,nssv1446068,nssv1446070,nssv1446069,nssv1446078,nssv1446076,nssv1446075,nssv1446077 M 95 0 10 AEBP1,GCK,MIR4649,MYL7,POLD2,POLM,YKT6 nsv887997 7 44093896 44123346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509886 S 6533 0 1 AEBP1,MIR4649,POLD2 SP54956 esv998294 7 44128287 44138502 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564722 S 3 0 1 POLD2 HuRef nsv509195 7 44153242 44267906 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619481 S 4 1 0 CAMK2B,GCK,YKT6 NA10860 nsv887998 7 44217351 44335590 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543497 S 6533 0 1 CAMK2B,YKT6 MS16153 esv24646 7 44232625 44234060 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18919,esv12464 M 451 8 0 CAMK2B NA06985,NA07045,NA12044,NA12414,NA12776,NA15510,NA18916,NA19147 esv9227 7 44233651 44233714 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31668 S 1 0 1 CAMK2B SJK esv2629662 7 44260690 44261018 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246515 S 1 1 0 CAMK2B NA18507 nsv830984 7 44298622 44488711 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446081,nssv1446080 M 95 2 0 CAMK2B,NUDCD3 esv22639 7 44331074 44332062 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15091 S 451 0 1 CAMK2B NA07045 esv2431198 7 44334324 44335190 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308482 S 1 1 0 "" NA18507 nsv525555 7 44344432 44355144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701694 S 2026 0 1 "" nsv526063 7 44344432 44416026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702302 S 2026 0 1 NUDCD3 esv33931 7 44410930 44411339 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98268 S 51 0 1 NUDCD3 21772 nsv523191 7 44519763 44547516 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698907 S 2026 0 1 NPC1L1 nsv515502 7 44528426 44548511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653346,nssv656065 M 2026 0 2 NPC1L1 esv2142122 7 44566524 44567027 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571731 S 1 0 1 "" NA18507 esv989680 7 44566701 44566848 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567577 S 3 0 1 "" HuRef esv1770595 7 44566703 44566851 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714361 S 2 0 1 "" HuRef nsv366568 7 44566704 44566851 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385146 M 24 "" esv259584 7 44629516 44629834 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394238,essv2393955 M 6 0 0 Samples from several populations that are part of the HapMap project. OGDH NA12878,NA12891 esv259884 7 44629524 44629844 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398495,essv2400882,essv2399829,essv2396260,essv2397588,essv2399358,essv2395408,essv2399207,essv2397330,essv2401102,essv2395721,essv2394913,essv2397998 M 144 0 0 Samples from several populations that are part of the HapMap project. OGDH NA11894,NA11993,NA11994,NA12006,NA12044,NA12287,NA12749,NA12776,NA12878,NA12891,NA18532,NA18942,NA19147 nsv820209 7 44685328 44697904 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418632 S 2 0 1 OGDH AK1 nsv5722 7 44741952 44757351 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2757 S 9 1 0 ZMIZ2 NA18555 nsv887999 7 44743099 44774422 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509887 S 6533 0 1 ZMIZ2 SP54956 nsv830985 7 44799599 44985712 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446082 S 95 0 1 H2AFV,MIR4657,MYO1G,PPIA,PURB nsv5723 7 44847438 44881380 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3524 S 9 1 0 H2AFV NA12878 nsv888000 7 44869123 44899063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509888,nssv1511382 M 6533 0 2 MIR4657,PURB SP54956,SP55021 esv1500317 7 44877268 44877342 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038314 S 2 0 1 "" HuRef esv2445943 7 44928416 44930160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327757 S 1 0 1 "" NA18507 esv4495 7 44928716 44929423 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26936 S 1 0 1 Single Asian sample YH "" YH esv274072 7 44952000 44952295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582131,essv2582356,essv2582897,essv2584743,essv2583364 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv21957 7 44967012 44968292 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20881 S 451 1 1 "" NA11995,NA12156 nsv366876 7 44967099 44967245 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385454 M 24 "" esv8472 7 44967178 44967918 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30913 S 1 0 1 "" SJK esv1427278 7 44998755 44998755 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632860 S 2 1 0 "" HuRef nsv366390 7 45036963 45037796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384968 M 24 CCM2 nsv888001 7 45071671 45115413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499902 S 6533 0 1 CCM2,NACAD,SNORA5A,SNORA5B,SNORA5C,TBRG4 SP50159 nsv824082 7 45084004 45086520 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432125 S 31 0 1 "" AK20 esv23985 7 45084304 45085914 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18288 S 451 0 1 "" NA07037 esv1076637 7 45090341 45090461 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611828 S 2 0 1 NACAD HuRef nsv830986 7 45135931 45325180 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446086,nssv1446083,nssv1446084,nssv1446087,nssv1446089,nssv1446088,nssv1446091,nssv1446090 M 95 0 8 RAMP3 nsv523402 7 45146403 45156939 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699153 S 2026 1 0 "" esv23987 7 45156888 45158203 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12454 S 451 5 0 "" NA18508,NA18858,NA18861,NA19114,NA19225 nsv516731 7 45178315 45191627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682815,nssv700467,nssv670497,nssv702001 M 2026 0 4 RAMP3 esv28566 7 45184874 45185499 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20448 S 451 2 0 RAMP3 NA12006,NA18523 nsv510957 7 45267977 45345989 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624314 S 4 0 0 "" NA18994 nsv469714 7 45284031 45440209 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649735 M 265 0 8 Samples from several populations that are part of the HapMap project. "" esv267707 7 45295864 45296080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504029 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv989460 7 45397649 45413153 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565419 S 3 1 0 "" HuRef esv2243668 7 45438597 45438922 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956741 S 1 0 1 "" NA18507 nsv5724 7 45526127 45560591 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv625 S 9 1 0 "" NA19240 nsv523747 7 45535630 45564994 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699564 S 2026 0 1 "" nsv888002 7 45542440 45650329 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533757 S 6533 0 1 ADCY1 MS11306 esv24848 7 45580328 45581043 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13220 S 451 0 1 ADCY1 NA07045 nsv818498 7 45623449 45670496 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417879 S 112 0 1 ADCY1 NA18853 nsv523515 7 45691221 45702211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699288 S 2026 0 1 ADCY1 esv2088604 7 45742253 45742814 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952535 S 1 0 1 SEPT7P2 NA18507 esv992874 7 45816826 45820406 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586074 S 3 0 1 "" HuRef esv28263 7 45817171 45823229 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14221,esv20777 M 451 1 12 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12044,NA12156,NA12287,NA12776,NA12828,NA18909,NA18916 esv2634880 7 45948377 45949973 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393496 S 1 0 1 "" NA18507 nsv818499 7 45999958 46007879 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416749 S 112 1 0 "" NA19159 esv2432995 7 46007834 46009290 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165181 S 1 0 1 "" NA18507 esv6567 7 46017118 46017238 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29008 S 1 1 0 "" SJK esv271254 7 46068671 46069012 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546606,essv2521258,essv2526005,essv2523118,essv2531765,essv2570371,essv2529368,essv2559673,essv2563955,essv2557547,essv2557000,essv2549998,essv2544620,essv2523936,essv2524672,essv2566280,essv2535694,essv2534138,essv2573207,essv2573521,essv2575745,essv2575352,essv2548139,essv2549623 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11918,NA12004,NA12006,NA12044,NA12749,NA12776,NA12828,NA18499,NA18501,NA18511,NA18526,NA18537,NA18555,NA18572,NA18608,NA18916,NA18942,NA18964,NA19099,NA19102,NA19210,NA19225 esv1028055 7 46068695 46068695 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639543 S 2 1 0 "" HuRef esv23148 7 46080296 46082009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13895 S 451 0 4 "" NA18502,NA18517,NA19114,NA19147 nsv517112 7 46080359 46080408 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665958,nssv668191,nssv676307,nssv664794,nssv684234,nssv683967,nssv686173,nssv667477,nssv683602,nssv676397,nssv666572,nssv666955,nssv690925,nssv687140,nssv662176,nssv664998,nssv669043,nssv683152,nssv687431,nssv653803,nssv690821,nssv670426,nssv673543,nssv686537,nssv659547,nssv693022,nssv661431,nssv656177,nssv652087,nssv663866,nssv693319,nssv673117,nssv677111,nssv673810,nssv678203,nssv676164,nssv680119 M 2026 0 37 "" dgv1102n67 7 46080558 46082244 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824083,nsv824084 M 31 0 3 "" AK14,NA18537,NA18949 nsv520026 7 46218211 46233138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672645,nssv685675,nssv662093,nssv660140 M 2026 0 4 "" nsv824085 7 46220419 46222698 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426760 S 31 0 1 "" AK6 esv1419706 7 46249535 46249535 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823141 S 2 1 0 "" HuRef nsv830987 7 46258799 46421381 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446092 S 95 0 1 "" esv269767 7 46316833 46317620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506804,essv2501653,essv2502505,essv2497295,essv2512725,essv2510030,essv2503108,essv2511103,essv2495144,essv2504338,essv2513094 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11918,NA12144,NA12750,NA18545,NA18577,NA18593,NA18943,NA18944,NA18964 esv275464 7 46322087 46325013 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586163 S 1250 0 1 "" nsv824086 7 46322506 46328891 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440426 S 31 0 1 "" NA18564 dgv421n21 7 46322714 46324409 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524929,nsv518152 M 2026 0 2 "" nsv5725 7 46328500 46373158 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8368 S 9 0 1 "" NA12156 esv2434009 7 46332441 46333817 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297191 S 1 0 1 "" NA18507 nsv5726 7 46446464 46491634 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8369 S 9 0 1 "" NA12156 esv268525 7 46467863 46474230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510869,essv2498833 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19116,NA19138 esv269038 7 46471028 46471362 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546179,essv2543920,essv2550630,essv2550365,essv2544239,essv2520709,essv2552664,essv2532409,essv2578625,essv2538984,essv2569717,essv2524753,essv2522095,essv2559055,essv2574008,essv2536214 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11881,NA11992,NA12155,NA12234,NA12414,NA12716,NA18502,NA18505,NA18510,NA18519,NA18520,NA18555,NA18571,NA18638,NA18951 nsv824088 7 46554694 46555956 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424288 S 31 0 1 "" NA18582 esv27339 7 46796290 46799249 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19828 S 451 0 3 "" NA18517,NA18861,NA19114 nsv830988 7 46811718 46975169 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446093 S 95 1 0 "" dgv2080e1 7 46840260 46848725 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10966,essv12935,esv948 M 271 0 0 "" NA19092,NA19094 nsv525012 7 46845272 46850175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701049 S 2026 0 1 "" nsv818501 7 46845272 46850175 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418284,nssv1418285 M 112 0 2 "" NA19092,NA19094 esv34471 7 46846075 46851185 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987390,essv6978420 M 771 0 1 "" NA19094 nsv8083 7 46868574 47064195 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15899 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 esv1236857 7 46871200 46871200 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936410 S 2 1 0 "" HuRef nsv830989 7 46953559 47131364 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446094,nssv1446095,nssv1446097,nssv1446098,nssv1446099,nssv1446100 M 95 3 3 "" nsv527412 7 46989114 46990029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703850 S 2026 0 1 "" nsv517543 7 47046524 47047553 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675321,nssv679388,nssv652315 M 2026 3 0 "" esv28641 7 47056105 47059180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10796 S 451 0 1 "" NA12287 nsv5727 7 47061805 47091193 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8370,nssv4977 M 9 0 2 "" NA12156,NA19129 nsv507386 7 47064817 47070817 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620376 S 4 1 0 "" NA15510 nsv5728 7 47152727 47188205 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3525 S 9 1 0 "" NA12878 nsv5729 7 47225340 47260689 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3526 S 9 1 0 "" NA12878 esv24240 7 47250178 47256783 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14345 S 451 0 2 "" NA18916,NA19108 esv2421721 7 47251656 47255449 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019150,essv5062526,essv5105038,essv5036086,essv5063081,essv5130263,essv5039468,essv5151079,essv5087357,essv5049396,essv5144211,essv5068655,essv5014483,essv5045295,essv5111740,essv5002279,essv5046613,essv5088803,essv5159470,essv5069118,essv5127460,essv5035927,essv5147563,essv5002853,essv5159861,essv5077573,essv5057929,essv5080193,essv5092496,essv5005987,essv5009421,essv5093076,essv5082944,essv5142332,essv5063189,essv5022019,essv5047858,essv5005857,essv5090595,essv5068882,essv5154772,essv5136822,essv5046999,essv5117228,essv5096417,essv5018222,essv5146846 M 1184 0 47 "" NA18503,NA18504,NA18871,NA18916,NA18930,NA19028,NA19046,NA19108,NA19109,NA19119,NA19140,NA19142,NA19175,NA19207,NA19313,NA19317,NA19318,NA19321,NA19324,NA19328,NA19347,NA19350,NA19352,NA19371,NA19375,NA19377,NA19384,NA19385,NA19394,NA19428,NA19430,NA19431,NA19443,NA19446,NA19468,NA19474,NA19909,NA20322,NA20334,NA20336,NA20348,NA20356,NA20358,NA21308,NA21309,NA21362,NA21826 nsv442040 7 47251811 47255449 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2654714 7 47368741 47369540 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291755 S 1 1 0 TNS3 NA18507 nsv366041 7 47377800 47377865 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384619 M 24 TNS3 nsv365584 7 47443832 47452811 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384162 M 24 TNS3 nsv507387 7 47492334 47498334 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617734,nssv621873,nssv623005,nssv620377 M 4 4 0 TNS3 CHM,NA10860,NA15510,NA18994 esv271919 7 47517580 47517904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514543,essv2518800,essv2515346,essv2518520,essv2515007,essv2516473,essv2517982,essv2516096,essv2514481,essv2517818,essv2516279,essv2516849,essv2518928,essv2519352,essv2513571 M 157 15 0 Samples from several populations that are part of the HapMap project. TNS3 NA07346,NA07347,NA11840,NA12045,NA12249,NA12287,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA19239 esv273058 7 47517585 47517899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582258,essv2582560,essv2583118,essv2584113 M 7 4 0 Samples from several populations that are part of the HapMap project. TNS3 NA12878,NA12891,NA12892,NA19238 esv2183820 7 47542236 47542648 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563269 S 1 0 1 TNS3 NA18507 esv271469 7 47558137 47558435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510629,essv2494358,essv2504325,essv2509709,essv2505184,essv2505901,essv2507148,essv2507447,essv2493501,essv2497590,essv2510433,essv2497102,essv2499704 M 157 13 0 Samples from several populations that are part of the HapMap project. TNS3 NA18501,NA18502,NA18505,NA18508,NA18853,NA18861,NA18870,NA18912,NA19137,NA19147,NA19172,NA19190,NA19225 esv994753 7 47561368 47563201 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565412 S 3 0 1 TNS3 HuRef nsv509196 7 47575368 47643178 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619482 S 4 1 0 TNS3 NA10860 esv1010133 7 47595798 47601581 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564117 S 3 0 1 "" HuRef nsv824089 7 47619084 47620630 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435933,nssv1426940 M 31 0 2 "" NA18566,NA18968 nsv7395 7 47620632 47660995 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2646 S 9 0 0 "" NA18555 esv272082 7 47636910 47637249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514927,essv2514308,essv2515814,essv2517250,essv2518272 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA12874,NA18969,NA18970,NA19240 esv273757 7 47636910 47637249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581572,essv2581101 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv5730 7 47653283 47668707 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv626 S 9 1 0 C7orf65 NA19240 esv2615644 7 47658204 47658714 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284848 S 1 1 0 "" NA18507 nsv512910 7 47658733 47659722 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625557 S 1 1 0 "" 1 nsv888003 7 47660795 47873739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528424 S 6533 1 0 C7orf65,C7orf69,MGC16075,PKD1L1 SP81228 esv1009681 7 47669663 47670500 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564971 S 3 0 1 "" HuRef esv259597 7 47675118 47676132 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394220,essv2394031 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19239 esv259856 7 47675157 47676171 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398637,essv2396749,essv2394792,essv2395837,essv2396715,essv2399105,essv2398079,essv2397293,essv2395255,essv2397446,essv2398860,essv2396833,essv2394705,essv2398452,essv2398246,essv2401006,essv2396446,essv2397085 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07357,NA11830,NA11831,NA11920,NA12144,NA12878,NA18499,NA18520,NA18582,NA18638,NA18870,NA18871,NA18909,NA19099,NA19138,NA19239 nsv519172 7 47696036 47697945 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696655 S 2026 0 1 "" nsv523498 7 47697945 47698428 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699267 S 2026 0 1 "" nsv526963 7 47707682 47716576 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703335 S 2026 0 1 "" nsv522585 7 47731262 47744210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705972 S 2026 0 1 "" nsv830990 7 47734065 47804109 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446101,nssv1446102,nssv1446103 M 95 0 3 C7orf69,MGC16075,PKD1L1 esv28770 7 47766123 47768025 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16631 S 451 5 0 MGC16075 NA07037,NA12006,NA18858,NA18861,NA19129 esv272374 7 47799146 47799283 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580826,essv2579618 M 7 2 0 Samples from several populations that are part of the HapMap project. PKD1L1 NA19238,NA19240 esv269639 7 47799148 47799422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2535127,essv2520341,essv2544973,essv2542696,essv2540583,essv2565009,essv2534846,essv2534479,essv2568704,essv2571184,essv2574406,essv2533304,essv2554712 M 157 13 0 Samples from several populations that are part of the HapMap project. PKD1L1 NA07051,NA07346,NA12249,NA12716,NA18526,NA18550,NA18552,NA18558,NA18561,NA18959,NA19147,NA19238,NA19240 nsv830991 7 47821055 47992521 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446104 S 95 0 1 C7orf69,HUS1,PKD1L1 nsv470221 7 47884020 48324909 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545510 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA13,C7orf57,HUS1,PKD1L1,SUN3,UPP1 HGDP01385 nsv464442 7 47884020 48325366 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540358 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA13,C7orf57,HUS1,PKD1L1,SUN3,UPP1 HGDP01385 nsv824090 7 47901186 47903830 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425836 S 31 0 1 PKD1L1 AK4 nsv365291 7 47952966 47953032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383869 M 24 PKD1L1 esv2387830 7 47978631 47979033 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4937648 S 1 0 1 HUS1 NA18507 nsv888004 7 47995296 48087242 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560981 S 6533 0 1 C7orf57,SUN3 MS24785 esv1442438 7 48045871 48045943 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4148384 S 2 0 1 C7orf57 HuRef nsv5732 7 48050805 48053556 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9709 S 9 1 0 C7orf57 NA18507 esv997355 7 48094956 48105351 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564622 S 3 0 1 UPP1 HuRef nsv528154 7 48236741 48237147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704702 S 2026 0 1 ABCA13 nsv888005 7 48283220 48289357 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523540 S 6533 0 1 ABCA13 SP54087 nsv5733 7 48357592 48404575 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9710 S 9 0 1 ABCA13 NA18507 esv2600887 7 48361806 48373209 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174229 S 1 0 1 ABCA13 NA18507 esv2314060 7 48362088 48372605 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920496 S 1 0 1 ABCA13 NA18507 nsv499496 7 48362268 48372422 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586021 S 9 0 1 ABCA13 nsv514415 7 48362304 48372168 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627869 S 1414 1 0 ABCA13 esv2623647 7 48362713 48373540 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5164591 S 1 0 1 ABCA13 NA18507 nsv521082 7 48363060 48367522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681516,nssv682895 M 2026 0 2 ABCA13 nsv442041 7 48363317 48371849 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABCA13 nsv888006 7 48438127 48462371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579179 S 6533 0 1 ABCA13 IS35028 nsv888007 7 48438127 48504054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572212 S 6533 0 1 ABCA13 IS32891 nsv524173 7 48450166 48450382 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700053 S 2026 0 1 ABCA13 nsv830992 7 48467954 48656988 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446105 S 95 1 0 ABCA13 esv1790237 7 48491725 48491725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200051 S 2 1 0 ABCA13 HuRef nsv888008 7 48538971 48622770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532257 S 6533 0 1 ABCA13 MS10737 esv21443 7 48551969 48562717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11306,esv11768 M 451 0 2 ABCA13 NA12489,NA18858 nsv514416 7 48552376 48562596 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627871 S 1414 0 1 ABCA13 esv2421774 7 48552398 48562571 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143377,essv5125883,essv5128168,essv5051902,essv5088999,essv5089257,essv5048897,essv5107721,essv5021658,essv5151160,essv5090765,essv5032099,essv5030208,essv5134762,essv5024394,essv5075469,essv5131773,essv5095877,essv5007914,essv5106432,essv5066211,essv5058752 M 1184 0 22 ABCA13 NA06986,NA07056,NA07347,NA12376,NA12489,NA12815,NA19749,NA19751,NA20297,NA20517,NA20797,NA20809,NA20849,NA20892,NA21097,NA21105,NA21390,NA21582,NA21611,NA21619,NA21635,NA21636 nsv442042 7 48552398 48562571 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABCA13 nsv527625 7 48557329 48566883 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704092 S 2026 0 1 ABCA13 esv275242 7 48562559 48576154 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585717,essv2586029 M 1250 1 1 ABCA13 esv993578 7 48623491 48625387 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586980 S 3 1 0 ABCA13 HuRef esv271615 7 48675439 48675541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571581,essv2568236,essv2521757,essv2540386,essv2534795,essv2553361,essv2522542,essv2573668,essv2530399 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11995,NA12144,NA18552,NA18561,NA18605,NA18960,NA18964,NA19141 nsv366329 7 48682967 48682967 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384907 M 24 "" esv22734 7 48714457 48715213 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13426 S 451 0 1 "" NA11995 nsv888009 7 48721403 48906689 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537681 S 6533 1 0 "" MS13292 esv1718440 7 48728873 48728873 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916889 S 2 1 0 "" HuRef dgv7257n71 7 48755982 48865876 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888010,nsv888011 M 6533 2 0 "" IS34733,SP50836 nsv464443 7 48793700 48865876 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540359 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01311 nsv888012 7 48793700 48955216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555390 S 6533 1 0 CDC14C MS21309 nsv7396 7 48869488 48962341 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11142,nssv627 M 9 0 0 CDC14C NA15510,NA19240 nsv499086 7 48876598 48916083 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585560 S 9 0 0 "" nsv292 7 48880676 48941685 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv292 S 1 0 0 CDC14C NA15510 nsv507388 7 48908114 48914114 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620378 S 4 1 0 "" NA15510 esv33916 7 48911695 48951008 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94215 S 51 1 0 CDC14C 22394 nsv507389 7 48948795 48954795 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620379,nssv623006 M 4 2 0 "" NA15510,NA18994 nsv516126 7 48957990 48961847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680683,nssv666382 M 2026 0 2 "" esv271851 7 48970505 48970620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512530,essv2493265,essv2494965,essv2513312,essv2498683,essv2502108 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18504,NA18520,NA18907,NA19138,NA19257 esv2532765 7 49027713 49028717 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390007 S 1 1 0 "" NA18507 esv272508 7 49028124 49028487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580130,essv2580304,essv2580670,essv2579138,essv2579428 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv269427 7 49028138 49028465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558060,essv2565730,essv2571748,essv2526261,essv2543829,essv2571008,essv2556651,essv2568270,essv2545528,essv2523144,essv2531753,essv2577501,essv2570675,essv2548279,essv2521699,essv2576709,essv2550541,essv2550387,essv2535345,essv2554099,essv2552242,essv2529321,essv2558390,essv2553799,essv2559456,essv2576361,essv2519974,essv2555059,essv2530750,essv2561905,essv2537608,essv2528426,essv2539991,essv2557152,essv2552594,essv2551904,essv2532128,essv2562546,essv2569401,essv2578548,essv2550184,essv2558910,essv2536947,essv2539093,essv2569650,essv2527158,essv2561638,essv2523525,essv2552979,essv2538389,essv2540539,essv2561211,essv2539627,essv2519774,essv2522307,essv2531030,essv2532557,essv2528736,essv2563639,essv2572289,essv2559087,essv2566884,essv2541934,essv2550915,essv2568998,essv2543592,essv2556209,essv2527909,essv2533975,essv2555365,essv2555530,essv2573965,essv2534409,essv2526942,essv2529818,essv2575683,essv2575275,essv2538650,essv2526422,essv2560672,essv2560896,essv2574633,essv2530260,essv2572626,essv2568674,essv2545147,essv2560174,essv2548059,essv2549744,essv2571213,essv2546090,essv2574136,essv2551452,essv2536082,essv2537925,essv2548935,essv2533024,essv2554673,essv2547965,essv2563192 M 157 100 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11840,NA11918,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12489,NA12749,NA12750,NA12763,NA12776,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA12891,NA18489,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18537,NA18542,NA18547,NA18552,NA18562,NA18563,NA18566,NA18571,NA18573,NA18576,NA18579,NA18603,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18916,NA18943,NA18945,NA18951,NA18959,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv1704097 7 49028170 49028170 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244744 S 2 1 0 "" HuRef esv1485443 7 49028209 49028581 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300006 S 2 0 1 "" HuRef nsv366839 7 49135878 49137491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385417 M 24 "" nsv514417 7 49144668 49148380 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627872 S 1414 0 1 "" esv2421504 7 49144690 49148378 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5114589,essv5138677,essv5102477,essv5082822,essv5006520,essv5106102,essv5053606,essv5041152,essv5067081,essv5068716,essv5117626,essv5085778,essv5105374,essv5083215,essv5132424,essv5064691,essv5151864,essv5031592,essv5140886,essv5068370,essv5131375,essv5099972,essv5051146,essv5148146,essv5097539,essv5154454,essv5147090,essv5145124,essv5115069,essv5016039,essv5014184,essv5132712,essv5045559,essv5133307,essv5086742,essv5117556,essv5086066,essv5042384,essv5092095,essv5108228,essv5092645,essv5046731,essv5151254,essv5105948 M 1184 0 44 "" NA18859,NA18867,NA18869,NA18874,NA19101,NA19117,NA19121,NA19239,NA19324,NA19332,NA19334,NA19399,NA19434,NA19438,NA19443,NA19463,NA19470,NA19474,NA21301,NA21302,NA21312,NA21313,NA21314,NA21320,NA21355,NA21359,NA21367,NA21368,NA21378,NA21388,NA21402,NA21405,NA21438,NA21439,NA21527,NA21583,NA21608,NA21614,NA21620,NA21650,NA21683,NA21719,NA21723,NA21733 nsv442043 7 49144690 49148378 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv520168 7 49145106 49148174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661338,nssv685216 M 2026 0 2 "" esv259712 7 49260973 49261339 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400645,essv2399926,essv2400660,essv2397989,essv2397220 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18856,NA18912,NA19147,NA19225 nsv888013 7 49319438 49459009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564904 S 6533 1 0 "" IS30316 nsv515884 7 49323210 49401446 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665402,nssv704080,nssv665140 M 2026 2 1 "" nsv830994 7 49336160 49534010 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446114,nssv1446113,nssv1446111,nssv1446106,nssv1446110,nssv1446112,nssv1446109,nssv1446108 M 95 8 0 "" nsv5734 7 49407196 49430158 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv629 S 9 1 0 "" NA19240 nsv5735 7 49441069 49485830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8371 S 9 0 1 "" NA12156 nsv830995 7 49513375 49694676 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446115 S 95 1 0 "" esv4571 7 49522553 49523038 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27012 S 1 0 1 Single Asian sample YH "" YH nsv365297 7 49522612 49522929 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383875 M 24 "" nsv888014 7 49529259 49604111 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598961 S 6533 0 1 "" IS41113 nsv888015 7 49542008 49588079 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566276 S 6533 0 1 "" IS30635 esv25181 7 49557421 49559535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20711 S 451 0 1 "" NA19114 nsv888016 7 49590653 49658670 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530278 S 6533 1 0 "" MS10291 nsv888017 7 49611136 49758405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564905 S 6533 1 0 "" IS30316 dgv7258n71 7 49659336 49712470 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888020,nsv888018 M 6533 0 2 "" IS37443,MS17852 nsv888019 7 49659336 49729582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596848,nssv1598720 M 6533 0 2 "" IS40657,IS40902 nsv830996 7 49661769 49824152 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446116,nssv1446117 M 95 2 0 VWC2 nsv5736 7 49666604 49716492 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9901,nssv10541,nssv2647,nssv4978,nssv630,nssv3527,nssv2648,nssv6124 M 9 0 7 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv508452 7 49687062 49700676 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617347,nssv618808,nssv619988,nssv622573 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 dgv116n16 7 49689557 49697816 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435859,nsv436537 M 2 0 2 "" NA15510,NA18505 esv999254 7 49689691 49696466 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565828 S 3 0 1 "" HuRef esv2457781 7 49689803 49697158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254520 S 1 0 1 "" NA18507 nsv511961 7 49690171 49696736 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624503 S 1 0 1 "" 1 nsv499249 7 49690384 49696454 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586022 S 9 0 1 "" esv1466481 7 49690394 49696453 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611200 S 2 0 1 "" HuRef esv274215 7 49747538 49747684 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584385,essv2583304 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv830997 7 49941412 50107044 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446119 S 95 1 0 C7orf72,ZPBP esv2576953 7 49989192 49992699 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343505 S 1 0 1 ZPBP NA18507 esv1138876 7 49991436 49991496 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4114617 S 2 0 1 ZPBP HuRef nsv366512 7 49991909 49991986 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385090 M 24 ZPBP nsv510079 7 50000549 50006549 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621306,nssv624027 M 4 0 2 ZPBP NA15510,NA18994 esv269973 7 50070337 50070422 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513942 S 157 1 0 Samples from several populations that are part of the HapMap project. ZPBP NA19143 nsv830998 7 50073729 50127110 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446120 S 95 0 1 C7orf72,ZPBP esv2547949 7 50074681 50077376 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361204 S 1 0 1 ZPBP NA18507 esv1958519 7 50075195 50076795 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4707257 S 1 0 1 ZPBP NA18507 esv22697 7 50075343 50076699 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16471 S 451 0 8 ZPBP NA11894,NA12006,NA12287,NA12776,NA18858,NA18909,NA19225,NA19240 esv2141038 7 50098799 50099215 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649023 S 1 0 1 ZPBP NA18507 esv1003850 7 50118851 50126752 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564859 S 3 0 1 C7orf72 HuRef esv259459 7 50165851 50166111 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394121 S 6 0 0 Samples from several populations that are part of the HapMap project. C7orf72 NA12878 nsv518219 7 50240218 50265402 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695644 S 2026 0 1 "" nsv520090 7 50240560 50265402 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677268,nssv660637,nssv704139 M 2026 1 2 "" nsv510080 7 50278230 50284230 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624029 S 4 0 1 "" NA18994 esv27276 7 50313753 50314953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11239 S 451 0 1 IKZF1 NA07045 nsv522250 7 50410220 50422230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695031 S 2026 0 1 IKZF1 esv271831 7 50440744 50440922 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526198,essv2544216,essv2556671,essv2548482,essv2519854,essv2559892,essv2532797,essv2572236,essv2543266 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA11992,NA11994,NA12045,NA18566,NA18570,NA18576,NA18609,NA18965 nsv515738 7 50443603 50461701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676346,nssv656256,nssv663178,nssv667884,nssv686093,nssv664638 M 2026 0 6 "" nsv5737 7 50453261 50464656 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10542 S 9 1 0 "" NA18956 nsv888021 7 50506083 50577565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536897 S 6533 0 1 DDC,LOC100129427 MS13011 nsv507390 7 50511029 50517029 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617735,nssv623007,nssv620381,nssv621874 M 4 4 0 DDC CHM,NA10860,NA15510,NA18994 nsv516640 7 50533457 50536229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663014,nssv696578,nssv669818 M 2026 0 3 DDC nsv521070 7 50648750 50653096 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693769,nssv681237 M 2026 0 2 GRB10 nsv5738 7 50702524 50735030 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10543 S 9 1 0 GRB10 NA18956 esv275051 7 50723008 50723814 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585529 S 1250 0 1 GRB10 nsv824091 7 50796176 50853478 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426951 S 31 1 0 GRB10 NA18968 nsv824092 7 50813578 50833025 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426761 S 31 1 0 GRB10 AK6 esv24304 7 50827871 50828607 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13718 S 451 0 1 GRB10 NA07045 nsv507391 7 50833718 50839718 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623008,nssv617736,nssv621875 M 4 3 0 "" CHM,NA10860,NA18994 nsv524131 7 50900864 50928797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700009 S 2026 0 1 "" nsv527462 7 50900864 50956877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703905 S 2026 0 1 "" nsv888022 7 50901172 51014168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556520,nssv1554292 M 6533 0 2 "" MS20710,MS22103 nsv520092 7 50911090 50941280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660638,nssv689549 M 2026 0 2 "" nsv508453 7 50931274 50997933 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618809 S 4 0 1 "" NA10860 nsv442044 7 50962568 50967266 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv830999 7 50988229 51132303 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446121 S 95 1 0 COBL esv994661 7 51049169 51049226 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576845 S 3 0 1 "" HuRef nsv366091 7 51049170 51049227 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384669 M 24 "" esv1332935 7 51049170 51049228 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699150 S 2 0 1 "" HuRef esv26430 7 51049975 51050709 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17183 S 451 0 2 "" NA11995,NA12004 nsv516294 7 51151497 51159991 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667388,nssv684739 M 2026 2 0 COBL nsv5739 7 51176178 51179754 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8372 S 9 1 0 COBL NA12156 esv1975196 7 51238218 51238877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909462 S 1 0 1 COBL NA18507 nsv5740 7 51275551 51305560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6125 S 9 1 0 COBL NA12156 nsv831000 7 51298812 51479128 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446122 S 95 1 0 COBL nsv366189 7 51323973 51324075 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384767 M 24 COBL esv2474906 7 51417863 51450155 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317887 S 1 0 1 "" NA18507 esv25419 7 51422202 51423357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13327 S 451 0 5 "" NA07037,NA11993,NA12044,NA12156,NA18909 esv997340 7 51422202 51423357 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586363 S 3 0 1 "" HuRef nsv5741 7 51522875 51595975 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2649,nssv3528,nssv6126 M 9 0 3 "" NA12156,NA12878,NA18555 esv28338 7 51558704 51571221 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12415,esv14151,esv20778 M 451 0 31 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12044,NA12156,NA12239,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819013 7 51559033 51569094 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418587 S 2 0 1 "" AK1 esv1000422 7 51559221 51566635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564212 S 3 0 1 "" HuRef nsv511362 7 51560488 51565974 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625925 S 1 1 0 "" 1 esv9316 7 51561803 51566186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31757 S 1 0 1 "" SJK nsv435853 7 51561806 51568002 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466344 S 2 0 1 "" NA15510 nsv436541 7 51561827 51566138 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466345 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv1103n67 7 51562649 51565871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824094,nsv824093 M 31 0 25 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK8,NA18526,NA18542,NA18552,NA18564,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv514418 7 51562876 51565712 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627873 S 1414 0 1 "" esv2422050 7 51562900 51566203 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090747,essv5046125,essv5102862,essv5059712,essv5153738,essv5153755,essv5113345,essv5081759,essv5107847,essv5024864,essv5095837,essv5006197,essv5129788,essv5155095,essv5141611,essv5049738,essv5130140,essv5125462,essv5042522,essv5119447,essv5144719,essv5057721,essv5129878,essv5072099,essv5017286,essv5124777,essv5085729,essv5017536,essv5142134,essv5095655,essv5132069,essv5130819,essv5150564,essv5039839,essv5067869,essv5078915,essv5161069,essv5084951,essv5098947,essv5013922,essv5111846,essv5011268,essv5130669,essv5093632,essv5111400,essv5115668,essv5131468,essv5055986,essv5068574,essv5154485,essv5113981,essv5075518,essv5066470,essv5013567,essv5100098,essv5056979,essv5086582,essv5006227,essv5150524,essv5079565,essv5122382,essv5090699,essv5006968,essv5064358,essv5107285,essv5067847,essv5052992,essv5120537,essv5019949,essv5082141,essv5134859,essv5141809,essv5102953,essv5069383,essv5056179,essv5087022,essv5023375,essv5052001,essv5118190,essv5101509,essv5149299,essv5157595,essv5081737,essv5090276,essv5030793,essv5043108,essv5052493,essv5092682,essv5004413,essv5075333,essv5097477,essv5057191,essv5075556,essv5076871,essv5160061,essv5088828,essv5023624,essv5011479,essv5011482,essv5124075,essv5090807,essv5078381,essv5146701,essv5135378,essv5051855,essv5076447,essv5092361,essv5004179,essv5012347,essv5147006,essv5073229,essv5003840,essv5068875,essv5153701,essv5141368,essv5125425,essv5039655,essv5059240,essv5142809,essv5067759,essv5056933,essv5144827,essv5014266,essv5064201,essv5063790,essv5028458,essv5077127,essv5148246,essv5038490,essv5038914,essv5153204,essv5147627,essv5064188,essv5101935,essv5024323,essv5138419,essv5151380,essv5005562,essv5090320,essv5032588,essv5091061,essv5097492,essv5007071,essv5073029,essv5078481,essv5042299,essv5084909,essv5135602,essv5032665,essv5091996,essv5013725,essv5020530,essv5134761,essv5023491,essv5053285,essv5036768,essv5112514,essv5082105,essv5067778,essv5088445,essv5131965,essv5149547,essv5017269,essv5057023,essv5068329,essv5097706,essv5152279,essv5111460,essv5057650,essv5049779,essv5139161,essv5145232,essv5088136,essv5125524,essv5014905,essv5062791,essv5028030,essv5027558,essv5038916,essv5087566,essv5127276,essv5138943,essv5019051,essv5087358,essv5142693,essv5006620,essv5117629,essv5150875,essv5047482,essv5130052,essv5122793,essv5058547,essv5007415,essv5064650,essv5158532,essv5116276,essv5065048,essv5069940,essv5131469,essv5146463,essv5098985,essv5151377,essv5027185,essv5160622,essv5144614,essv5113299,essv5033975,essv5060900,essv5007011,essv5143192,essv5150526,essv5034995,essv5136020,essv5099879,essv5057068,essv5069310,essv5108134,essv5036105,essv5100701,essv5011422,essv5061379,essv5092045,essv5096113,essv5050452,essv5033086,essv5007820,essv5084930,essv5017952,essv5047979,essv5068008,essv5127674,essv5141081,essv5050960,essv5142840,essv5092027,essv5096084,essv5149339,essv5122878,essv5041651,essv5084111,essv5140297,essv5072889,essv5053798,essv5140833,essv5147523,essv5152172,essv5144940,essv5147685,essv5153345,essv5092493,essv5043959,essv5091764,essv5123761,essv5084963,essv5110535,essv5153431,essv5088687,essv5141797,essv5139330,essv5006915,essv5003239,essv5030894,essv5143262,essv5037266,essv5110703,essv5101158,essv5080562,essv5098782,essv5089460,essv5158080,essv5147438,essv5116923,essv5090448,essv5115895,essv5158823,essv5152523,essv5097993,essv5011241,essv5135460,essv5160221,essv5028966,essv5138057,essv5032932,essv5042231,essv5061886,essv5128130,essv5138953,essv5042017,essv5128134,essv5043908,essv5155849,essv5065911,essv5025325,essv5125153,essv5089500,essv5112401,essv5002706,essv5156510,essv5078350,essv5023410,essv5145952,essv5154810,essv5081383,essv5078762,essv5114129,essv5123074,essv5023466,essv5119519,essv5156302,essv5115417,essv5070221,essv5064948,essv5097732,essv5104667,essv5083243,essv5072857,essv5038299,essv5101357,essv5125637,essv5134555,essv5152136,essv5056411,essv5042620,essv5148853,essv5150892,essv5007985,essv5044296,essv5041774,essv5096225,essv5041836,essv5023065,essv5092240,essv5149068,essv5112890,essv5048000,essv5016849,essv5013235,essv5110244,essv5105115,essv5060782,essv5078230,essv5028896,essv5060422,essv5112846,essv5118875,essv5051462,essv5131209,essv5067137,essv5093475,essv5004898,essv5006558,essv5116891,essv5013942,essv5001945,essv5047443,essv5135150,essv5058749,essv5038242,essv5053044,essv5128391,essv5027586,essv5130276,essv5042033,essv5017147,essv5105238,essv5145832,essv5103890,essv5002726,essv5105704,essv5101057,essv5073497,essv5010503,essv5035287,essv5154003,essv5100576,essv5075324,essv5128439,essv5110112,essv5126151,essv5014969,essv5093689,essv5030099,essv5058911,essv5083026,essv5161079,essv5043438,essv5157960,essv5062616,essv5069572,essv5060767,essv5025394,essv5129832,essv5043472,essv5154062,essv5030932,essv5084267,essv5027395,essv5071240,essv5015659,essv5027487,essv5096945,essv5081476,essv5130228,essv5054122,essv5006761,essv5124977,essv5154975,essv5038196,essv5088471,essv5039454,essv5029397,essv5138948,essv5054085,essv5154958,essv5056998,essv5012598,essv5144807,essv5076529,essv5042575,essv5010414,essv5007147,essv5120684,essv5023482,essv5158959,essv5094394,essv5024061,essv5017848,essv5159487,essv5049987,essv5005353,essv5066176,essv5043198,essv5123245,essv5045689,essv5073993,essv5126600,essv5047264,essv5019752,essv5128026,essv5042644,essv5127298,essv5147342,essv5060790,essv5148598,essv5152260,essv5147071,essv5047822,essv5153208,essv5079101,essv5078114,essv5081071,essv5143778,essv5103095,essv5133076,essv5072924,essv5008437,essv5010601,essv5080342,essv5151235,essv5057942,essv5090587,essv5113884,essv5116448,essv5073056,essv5003394,essv5054195,essv5114566,essv5080768,essv5131297,essv5133626,essv5044162,essv5131135,essv5117435,essv5143938,essv5121209,essv5014037,essv5109320,essv5129008,essv5154563,essv5003283,essv5052173,essv5132550,essv5047955,essv5017516,essv5005885,essv5149923,essv5099530,essv5123432,essv5040954,essv5004805,essv5043434,essv5078466,essv5049293,essv5044452,essv5074305,essv5134160,essv5028363,essv5126739,essv5137666,essv5086078,essv5087980,essv5022136,essv5102007,essv5099424,essv5015387,essv5041449,essv5125600,essv5096461,essv5138173,essv5129252,essv5016682,essv5148435,essv5094890,essv5075840,essv5144734,essv5121374,essv5019957,essv5098026,essv5045218,essv5023984,essv5154311,essv5089484,essv5037282,essv5102375,essv5110721,essv5022080,essv5156259,essv5034884,essv5113458,essv5073776,essv5040236,essv5068914,essv5015849,essv5032554,essv5079676,essv5127272,essv5141146,essv5077588,essv5091923,essv5159760,essv5010045,essv5024930,essv5007797,essv5015119,essv5078802,essv5057466,essv5114814,essv5036108,essv5135331,essv5151564,essv5151868,essv5074472,essv5003562,essv5106816,essv5019239,essv5136380,essv5050823,essv5098088,essv5054344,essv5099582,essv5051514,essv5153544,essv5083392,essv5066007,essv5129240,essv5063828,essv5131647,essv5029715,essv5019356,essv5097460,essv5117258,essv5091065,essv5104711,essv5139506,essv5043741,essv5148949,essv5112458,essv5105982,essv5074965,essv5122665,essv5074222,essv5107270,essv5074023,essv5105898,essv5107328,essv5108614,essv5075955,essv5049360,essv5108965,essv5118433,essv5007706,essv5087482,essv5013216,essv5113215,essv5093755,essv5079281,essv5086559,essv5108270,essv5072238,essv5118755,essv5073253,essv5075533,essv5022098,essv5032671,essv5147360,essv5127808,essv5043320,essv5126552,essv5127538,essv5140015,essv5095139,essv5014267,essv5142453,essv5020912,essv5109854,essv5134628,essv5043227,essv5076512,essv5121690,essv5154907,essv5123054,essv5003187,essv5119149,essv5042655,essv5027749,essv5044818,essv5064142,essv5133296,essv5130034,essv5070301,essv5112183,essv5086263,essv5041016,essv5096005,essv5120748,essv5113569,essv5149000,essv5152004,essv5017605,essv5058844,essv5006592,essv5021963,essv5069423,essv5025252,essv5061925,essv5126033,essv5133910,essv5131954,essv5117783,essv5102273,essv5038547,essv5144042,essv5059761,essv5061369,essv5088096,essv5026858,essv5089649,essv5107121,essv5083178,essv5092552,essv5019741,essv5004390,essv5062281,essv5110275,essv5108537,essv5070213,essv5119424,essv5122199,essv5084127,essv5141483,essv5047632,essv5158594,essv5011943,essv5023698,essv5030861,essv5087494,essv5033898,essv5061336,essv5057661,essv5044211,essv5096741,essv5013175,essv5004766,essv5103526,essv5050602,essv5120857,essv5141912,essv5146829,essv5111051,essv5127486,essv5153622,essv5062899,essv5049076,essv5139762,essv5010007,essv5132888,essv5015981,essv5073283,essv5121143,essv5091148,essv5039109,essv5095231,essv5118011,essv5072308,essv5045381,essv5088788,essv5093610,essv5017878,essv5023954,essv5100459,essv5152573,essv5012480,essv5090412,essv5013947,essv5102220,essv5042399,essv5161010,essv5141141,essv5123079,essv5051816,essv5106297,essv5114261,essv5077267,essv5120709,essv5117710,essv5113504,essv5029839,essv5082211,essv5124366,essv5077261,essv5030877,essv5016241,essv5014898,essv5031321,essv5132620,essv5070084,essv5063716,essv5103570,essv5061506,essv5002244,essv5086577,essv5098297,essv5054593,essv5041287,essv5086344,essv5009654,essv5102522,essv5014829,essv5047120,essv5109129,essv5038301,essv5071891,essv5010712,essv5088668,essv5148039,essv5150541,essv5121060,essv5096826,essv5106215,essv5158483,essv5026712,essv5148244,essv5083735,essv5097249,essv5052013,essv5129623,essv5017728,essv5072521,essv5053069,essv5147215,essv5159248,essv5054509,essv5018891,essv5072573,essv5030720,essv5146583,essv5097691,essv5085351,essv5102742,essv5098301,essv5029132,essv5066177,essv5059154,essv5075725,essv5091988,essv5028339,essv5069185,essv5043790,essv5111839,essv5133590,essv5160146,essv5087217,essv5154137,essv5040933,essv5024216,essv5138931,essv5107112,essv5048417,essv5154450,essv5088134,essv5106546,essv5137333,essv5046279,essv5064518,essv5103043,essv5128377,essv5122845,essv5014772,essv5055247,essv5077930,essv5123718,essv5080263,essv5053628,essv5057415,essv5014743,essv5158562,essv5105681,essv5117236,essv5120438,essv5020542,essv5119293,essv5038524,essv5023897,essv5019580,essv5084291,essv5114229,essv5102303,essv5031286,essv5102168,essv5092183,essv5159599,essv5085182,essv5057718,essv5061678,essv5013836,essv5039215,essv5129212,essv5108196,essv5117871,essv5115715,essv5135231,essv5044207,essv5091180,essv5111056,essv5044694,essv5019350,essv5080253,essv5146528,essv5073595,essv5103608,essv5145022,essv5140123,essv5160534,essv5160054,essv5006268,essv5061664,essv5016879,essv5121486,essv5125073,essv5109751,essv5082824,essv5083524,essv5141857,essv5048944,essv5073003,essv5142413,essv5047601,essv5002824,essv5028566,essv5161206,essv5094079,essv5016839,essv5022315,essv5136723,essv5053066,essv5086581,essv5071808,essv5160575,essv5096293,essv5127975,essv5065324,essv5013657,essv5087006 M 1184 0 883 "" NA06984,NA06985,NA06991,NA06993,NA06994,NA06995,NA07014,NA07022,NA07029,NA07031,NA07037,NA07051,NA07055,NA07345,NA07346,NA10830,NA10831,NA10835,NA10836,NA10838,NA10840,NA10845,NA10846,NA10847,NA10850,NA10852,NA10854,NA10855,NA10856,NA10859,NA10863,NA10865,NA11829,NA11832,NA11840,NA11881,NA11882,NA11891,NA11892,NA11918,NA11920,NA11930,NA11931,NA11992,NA11993,NA11995,NA12003,NA12005,NA12043,NA12044,NA12056,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12275,NA12282,NA12283,NA12286,NA12335,NA12340,NA12342,NA12343,NA12344,NA12347,NA12348,NA12376,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12718,NA12748,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12778,NA12802,NA12814,NA12815,NA12818,NA12827,NA12828,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12874,NA12875,NA12878,NA12891,NA12892,NA17962,NA17966,NA17967,NA17968,NA17970,NA17974,NA17975,NA17980,NA17981,NA17982,NA17983,NA17987,NA17988,NA17990,NA17993,NA17996,NA18101,NA18102,NA18105,NA18107,NA18109,NA18112,NA18117,NA18120,NA18122,NA18124,NA18125,NA18132,NA18133,NA18134,NA18135,NA18136,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18149,NA18151,NA18152,NA18154,NA18155,NA18156,NA18157,NA18160,NA18484,NA18485,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18509,NA18511,NA18516,NA18518,NA18519,NA18520,NA18524,NA18526,NA18532,NA18534,NA18536,NA18542,NA18543,NA18544,NA18548,NA18550,NA18552,NA18555,NA18557,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18596,NA18597,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18748,NA18749,NA18757,NA18853,NA18854,NA18855,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18939,NA18940,NA18942,NA18944,NA18945,NA18947,NA18949,NA18951,NA18953,NA18954,NA18960,NA18961,NA18962,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18979,NA18980,NA18981,NA18987,NA18991,NA18993,NA18994,NA18995,NA18997,NA18999,NA19000,NA19002,NA19007,NA19010,NA19027,NA19028,NA19031,NA19036,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19056,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19072,NA19074,NA19075,NA19076,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19086,NA19093,NA19095,NA19096,NA19097,NA19098,NA19099,NA19101,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19130,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19144,NA19146,NA19147,NA19148,NA19149,NA19151,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19185,NA19186,NA19190,NA19191,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19206,NA19207,NA19208,NA19210,NA19213,NA19214,NA19215,NA19221,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19310,NA19311,NA19314,NA19317,NA19321,NA19324,NA19327,NA19328,NA19334,NA19346,NA19347,NA19352,NA19359,NA19360,NA19373,NA19374,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19404,NA19430,NA19431,NA19434,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19468,NA19469,NA19470,NA19471,NA19474,NA19649,NA19650,NA19651,NA19652,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19701,NA19702,NA19703,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19720,NA19721,NA19723,NA19724,NA19725,NA19726,NA19727,NA19747,NA19748,NA19749,NA19750,NA19756,NA19760,NA19761,NA19762,NA19763,NA19771,NA19772,NA19774,NA19775,NA19776,NA19777,NA19778,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19794,NA19796,NA19818,NA19819,NA19828,NA19834,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19982,NA19983,NA19985,NA20126,NA20129,NA20276,NA20277,NA20282,NA20287,NA20288,NA20289,NA20294,NA20295,NA20300,NA20301,NA20302,NA20317,NA20319,NA20333,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20363,NA20364,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20515,NA20516,NA20518,NA20519,NA20521,NA20524,NA20525,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20582,NA20586,NA20589,NA20752,NA20754,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20768,NA20769,NA20773,NA20775,NA20783,NA20785,NA20787,NA20795,NA20796,NA20797,NA20799,NA20802,NA20803,NA20804,NA20805,NA20807,NA20809,NA20810,NA20812,NA20815,NA20816,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20872,NA20873,NA20874,NA20875,NA20876,NA20879,NA20881,NA20883,NA20884,NA20885,NA20890,NA20891,NA20892,NA20895,NA20898,NA20899,NA20900,NA20901,NA20902,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21097,NA21098,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21308,NA21311,NA21312,NA21314,NA21316,NA21317,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21352,NA21353,NA21356,NA21357,NA21360,NA21361,NA21362,NA21364,NA21365,NA21366,NA21367,NA21368,NA21371,NA21378,NA21379,NA21381,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21447,NA21448,NA21451,NA21453,NA21455,NA21475,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21519,NA21520,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21576,NA21577,NA21578,NA21582,NA21587,NA21596,NA21597,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21617,NA21619,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21685,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21723,NA21733,NA21740,NA21741,NA21776,NA21784,NA21825,NA21826 nsv510081 7 51577221 51583221 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621307,nssv624030 M 4 0 2 "" NA15510,NA18994 nsv824095 7 51582205 51587161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433519 S 31 0 1 "" NA18592 esv2752158 7 51583285 51806685 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986180,essv6988540,essv6982458,essv6982459,essv6982460 M 771 1 0 "" BEC_447 esv2336939 7 51659202 51659908 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499870 S 1 0 1 "" NA18507 esv7505 7 51659398 51659694 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29946 S 1 0 1 "" SJK nsv365829 7 51685309 51685401 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384407 M 24 "" esv23163 7 51710417 51719246 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16100 S 451 1 0 "" NA19240 nsv5744 7 51715999 51745948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv631 S 9 1 0 "" NA19240 nsv527881 7 51791555 51797355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704383 S 2026 0 1 "" esv28384 7 51818579 51821308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19529 S 451 0 3 "" NA18502,NA19147,NA19240 nsv514419 7 51819304 51820744 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627874 S 1414 0 1 "" nsv510082 7 51945264 51951264 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618259,nssv621308,nssv624031 M 4 0 3 "" CHM,NA15510,NA18994 esv22498 7 51975849 51976328 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16915 S 451 1 0 "" NA19225 esv1126586 7 51992687 51992687 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003779 S 2 1 0 "" HuRef nsv8084 7 52000995 53004168 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14602 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 nsv365990 7 52012259 52012259 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384568 M 24 "" nsv519964 7 52012386 52334206 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697151 S 2026 1 0 "" esv2453307 7 52061650 52063111 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264297 S 1 0 1 "" NA18507 esv2249818 7 52062277 52062968 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4633866 S 1 0 1 "" NA18507 esv4278 7 52062401 52062888 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26719 S 1 0 1 Single Asian sample YH "" YH nsv365689 7 52062457 52062769 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384267 M 24 "" esv6788 7 52062464 52062778 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29229 S 1 0 1 "" SJK esv995526 7 52062468 52062780 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584963 S 3 0 1 "" HuRef esv1156054 7 52062468 52062781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885183 S 2 0 1 "" HuRef esv2541490 7 52074115 52075478 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175514 S 1 0 1 "" NA18507 esv2143225 7 52074422 52075115 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859221 S 1 0 1 "" NA18507 esv5011 7 52074538 52074992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27452 S 1 0 1 Single Asian sample YH "" YH esv9622 7 52074604 52074920 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32063 S 1 0 1 "" SJK esv1340062 7 52074614 52074931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242606 S 2 0 1 "" HuRef esv273427 7 52090007 52091379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579257 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268919 7 52090007 52091398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510210,essv2511059,essv2503244,essv2495415,essv2503425,essv2493411,essv2510680,essv2504300,essv2496381,essv2506085,essv2513547,essv2509368,essv2501386,essv2506497,essv2501813,essv2502236 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11831,NA11881,NA11919,NA12716,NA12763,NA18501,NA18505,NA18510,NA18523,NA18907,NA18909,NA19093,NA19108,NA19239,NA19257 esv274453 7 52152136 52152491 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579105,essv2579478 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2407629 7 52160151 52160665 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4984018 S 1 0 1 "" NA18507 esv3191 7 52160243 52160591 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25632 S 1 0 1 Single Asian sample YH "" YH dgv7259n71 7 52186001 52318373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888023,nsv888025 M 6533 0 2 "" IS35018,IS36992 esv274424 7 52189447 52190506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579340 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv888024 7 52189816 52249249 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581393 S 6533 0 1 "" IS35572 nsv522026 7 52208484 52213803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694796 S 2026 0 1 "" nsv464445 7 52249955 52274292 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540360 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01228 nsv507392 7 52288371 52294371 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620382,nssv617737,nssv621876,nssv623009 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv437545 7 52300202 52306768 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467426 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19103 esv271464 7 52371381 52371466 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519167,essv2514161,essv2514828,essv2515343,essv2514955 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12043,NA12234,NA12249,NA12812 esv28747 7 52393087 52396624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10852 S 451 0 1 "" NA12006 nsv521226 7 52394388 52394497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688850,nssv686302 M 2026 0 2 "" esv3620 7 52487578 52487917 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26061 S 1 0 1 Single Asian sample YH "" YH esv1005733 7 52487665 52487866 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568061 S 3 0 1 "" HuRef esv1656527 7 52487667 52487869 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622579 S 2 0 1 "" HuRef dgv7260n71 7 52555842 53158002 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888026,nsv888027 M 6533 2 0 POM121L12 MS19746,MS25801 nsv888028 7 52555842 53579392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561782,nssv1562713 M 6533 2 0 POM121L12 MS25223,MS25703 nsv824096 7 52683007 52683740 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433727 S 31 0 1 "" NA18526 nsv517177 7 52696385 52711270 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654128,nssv687796,nssv679309,nssv678253,nssv678360,nssv670144,nssv673458,nssv671616,nssv677463,nssv653932,nssv677906,nssv682390,nssv665940,nssv687235,nssv686280,nssv693648,nssv655638,nssv680826,nssv662910,nssv690248,nssv655490,nssv672461,nssv693200,nssv671201,nssv655073,nssv688094,nssv672233,nssv679963,nssv691494,nssv651876,nssv663551,nssv651712,nssv686057,nssv655373,nssv693447,nssv656483,nssv670924,nssv678133,nssv684632,nssv689224,nssv659258,nssv677664,nssv678875,nssv659043,nssv676673,nssv689438,nssv692012,nssv692501,nssv691574,nssv672602,nssv664558,nssv689775 M 2026 52 0 "" nsv818502 7 52696385 52711270 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415844 S 112 1 0 "" NA11993 esv23257 7 52697597 52712801 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17724 S 451 1 0 "" NA11993 nsv513739 7 52698038 52712683 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626991 S 1 1 0 "" 1 esv2421635 7 52700785 52711270 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5086390,essv5135892,essv5063970,essv5083618,essv5069651,essv5007468,essv5092501,essv5067890,essv5144143,essv5062466,essv5085371,essv5153989,essv5077973,essv5073383,essv5014984,essv5054368,essv5097684,essv5041951,essv5039764,essv5125542,essv5045825,essv5116804,essv5158928,essv5012653,essv5091172,essv5035430,essv5004034,essv5057841,essv5097515,essv5148135,essv5148918,essv5118081,essv5021262,essv5129437,essv5034541,essv5122574,essv5041931,essv5146313,essv5117776,essv5149629,essv5061751,essv5152755,essv5129316,essv5161154,essv5059375,essv5082972,essv5157205,essv5124132 M 1184 48 0 "" NA06989,NA07055,NA07345,NA10855,NA10864,NA11831,NA11893,NA11993,NA12145,NA12154,NA12708,NA12718,NA12766,NA12775,NA19652,NA19653,NA20317,NA20510,NA20519,NA20530,NA20540,NA20541,NA20581,NA20758,NA20771,NA20790,NA20792,NA20800,NA20813,NA20818,NA20895,NA21390,NA21391,NA21403,NA21404,NA21420,NA21421,NA21423,NA21439,NA21440,NA21442,NA21447,NA21513,NA21517,NA21524,NA21611,NA21619,NA21650 dgv811n27 7 52700785 52719728 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464447,nsv464448,nsv464446 M 1557 3 0 "" HGDP00072,HGDP01164,NINDS_38 nsv818503 7 52701022 52711270 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418006 S 112 1 0 "" NA07345 nsv526376 7 52701022 52716029 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702672 S 2026 1 0 "" nsv442045 7 52704217 52709890 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514420 7 52704552 52709796 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627875 S 1414 1 0 "" esv2443003 7 52756360 52757160 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252537 S 1 1 0 "" NA18507 esv268083 7 52756925 52757010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517829,essv2519081 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19141 esv272404 7 52756925 52757010 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581098 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 dgv7261n71 7 52764818 52861741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888029,nsv888030 M 6533 0 2 "" IS41971,MS20042 nsv888031 7 52764818 52911918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578221 S 6533 0 1 "" IS34737 esv272201 7 52775761 52776124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580411 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv270059 7 52775771 52776074 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502862,essv2513179,essv2508351,essv2500352,essv2503023,essv2496554,essv2494978,essv2508270,essv2499863,essv2506337,essv2494513,essv2510011,essv2501592,essv2498600,essv2494114,essv2504961,essv2493021,essv2497433,essv2495921,essv2504801 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA12156,NA12249,NA12749,NA12891,NA18507,NA18510,NA18520,NA18561,NA18562,NA18566,NA18572,NA18593,NA18608,NA18858,NA18871,NA18942,NA18951,NA18959,NA18961,NA19099 esv274395 7 52776860 52777200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578952,essv2579446 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271771 7 52776863 52777188 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571721,essv2556771,essv2544516,essv2559591,essv2557380,essv2572848,essv2568610,essv2545973,essv2574293,essv2533131,essv2524838 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11840,NA11994,NA12414,NA12776,NA18499,NA19143,NA19147,NA19239,NA19240 nsv888032 7 52793497 52873426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517348 S 6533 0 1 "" SP57266 esv259723 7 52818351 52818756 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396525,essv2399448,essv2400672,essv2398386 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18858,NA18912,NA19093 nsv888033 7 52835716 52873426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499682 S 6533 0 1 "" SP50144 nsv510083 7 52878221 52884221 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624032 S 4 0 1 "" NA18994 nsv819210 7 52927460 52932452 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419675 S 2 1 0 "" AK1 esv23716 7 52930599 52932663 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18433,esv13874,esv12648 M 451 27 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12239,NA12287,NA12489,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 nsv821310 7 52930599 52932663 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420654 S 1 0 1 "" NA10851 nsv824097 7 52931664 52932378 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428370 S 31 1 0 "" AK10 nsv831001 7 52971028 53120277 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446123 S 95 0 1 POM121L12 nsv464449 7 52976987 52993859 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540364 S 1557 0 1 "" NINDS_209 nsv888034 7 52993859 53579392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553125 S 6533 1 0 POM121L12 MS19746 nsv522501 7 53003937 53007082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705869 S 2026 0 1 "" nsv5745 7 53069228 53102464 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv632 S 9 1 0 POM121L12 NA19240 nsv831002 7 53120494 53316510 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446124 S 95 1 0 "" nsv888035 7 53125393 53199701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599327 S 6533 0 1 "" IS41581 nsv888036 7 53136406 53176818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501791 S 6533 0 1 "" SP50877 nsv888037 7 53154984 53216221 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518793,nssv1512202 M 6533 1 1 "" SP55345,SP58155 nsv888038 7 53158002 53217872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518754 S 6533 0 1 "" SP57983 esv1171308 7 53163533 53163848 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299070 S 2 0 1 "" HuRef nsv437547 7 53165763 53212346 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467428 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19202 esv23705 7 53181331 53184922 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20028 S 451 0 3 "" NA18907,NA18909,NA19147 nsv514421 7 53181400 53182828 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627876 S 1414 0 1 "" nsv442046 7 53181505 53186117 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421546 7 53181505 53186406 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5079795,essv5037172,essv5116598,essv5117950,essv5006257,essv5135111,essv5020653,essv5042770,essv5085426,essv5081261,essv5121099,essv5020430,essv5053711,essv5086882,essv5028591,essv5161057,essv5149819,essv5081324,essv5054538,essv5139617,essv5080627,essv5051941,essv5154224,essv5128763,essv5089611,essv5021190,essv5028302,essv5160662,essv5017600,essv5021488,essv5103906,essv5119982,essv5086504,essv5129500,essv5010413,essv5036166,essv5136303,essv5089959,essv5093316,essv5151127,essv5059036 M 1184 0 41 "" NA18515,NA18516,NA18518,NA18519,NA18871,NA18909,NA18933,NA19041,NA19044,NA19098,NA19147,NA19159,NA19201,NA19202,NA19310,NA19390,NA19394,NA19438,NA19469,NA19472,NA19625,NA19712,NA19901,NA19902,NA20294,NA20295,NA20322,NA21316,NA21317,NA21318,NA21336,NA21384,NA21386,NA21387,NA21389,NA21402,NA21405,NA21577,NA21716,NA21718,NA21826 nsv517348 7 53181697 53206984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677006,nssv681791,nssv677883,nssv667163,nssv651796,nssv653218,nssv656420,nssv693920,nssv654739,nssv658906,nssv691404 M 2026 0 11 "" nsv888039 7 53199701 53579392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562981 S 6533 1 0 "" MS25801 nsv5746 7 53223749 53257815 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2758 S 9 1 0 "" NA18555 nsv517872 7 53229545 53232454 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695278 S 2026 0 1 "" esv2303145 7 53234667 53235396 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950858 S 1 0 1 "" NA18507 dgv1104n67 7 53234723 53235464 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824100,nsv824099,nsv824102 M 31 12 0 "" AK14,AK4,AK6,AK8,NA18537,NA18542,NA18552,NA18592,NA18942,NA18947,NA18949,NA18972 nsv821112 7 53234723 53235464 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420655 S 1 0 1 "" NA10851 nsv824101 7 53234787 53235916 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429147 S 31 1 0 "" AK12 esv990188 7 53234921 53235464 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586818 S 3 0 1 "" HuRef nsv8085 7 53288168 53294860 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17022 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv28997 7 53290476 53296172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10085 S 451 0 2 "" NA18502,NA18861 nsv818504 7 53293200 53295159 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415717 S 112 0 1 "" NA19140 nsv517416 7 53293200 53297998 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654417,nssv689595,nssv677007,nssv651959,nssv685499,nssv659232,nssv655576,nssv664131,nssv676970,nssv658699,nssv652495,nssv681541,nssv685700,nssv658003,nssv656988,nssv684413,nssv656369,nssv676092,nssv663909,nssv653221,nssv690421,nssv690803,nssv671631,nssv666661,nssv661031,nssv675804,nssv677884 M 2026 0 27 "" dgv2081e1 7 53300518 53452510 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4498,esv41 M 271 0 0 "" NA18552 nsv831003 7 53300623 53452510 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446125,nssv1446126,nssv1446127 M 95 2 1 "" esv272713 7 53325746 53326013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578960 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269440 7 53325760 53326086 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577343,essv2550762,essv2553882,essv2576416,essv2520126,essv2557127,essv2532674,essv2541483,essv2541945,essv2538659,essv2548118,essv2549892,essv2545843,essv2551354 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12155,NA12763,NA12814,NA12815,NA18501,NA18576,NA18592,NA18856,NA19108,NA19210,NA19225,NA19239,NA19257 nsv888040 7 53327973 53570050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583897 S 6533 0 1 "" IS36722 nsv831005 7 53328117 53519363 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446128 S 95 0 1 "" nsv5747 7 53329163 53346883 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8374 S 9 0 1 "" NA12156 esv2232885 7 53343332 53343741 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800701 S 1 0 1 "" NA18507 esv274056 7 53349136 53349306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579153 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268468 7 53349171 53349371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2577243,essv2550603,essv2553671,essv2576478,essv2520934,essv2532576,essv2569108,essv2528104,essv2573540,essv2538485,essv2549718,essv2546097 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12155,NA12763,NA12814,NA18498,NA18576,NA18861,NA18907,NA18964,NA19108,NA19225,NA19239 dgv7262n71 7 53405746 53570050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888045,nsv888041,nsv888042,nsv888043,nsv888044 M 6533 0 56 "" IS30181,IS30319,IS30564,IS30593,IS30884,IS31094,IS31155,IS31194,IS31481,IS31546,IS32538,IS32787,IS33027,IS33143,IS33530,IS33776,IS34407,IS35010,IS35018,IS35072,IS35138,IS35179,IS35354,IS35676,IS36170,IS36460,IS37156,IS38211,IS38335,IS38463,IS38583,IS38648,IS38665,IS38754,IS39494,IS39660,IS39680,IS39963,IS40005,IS40291,IS40347,IS40416,IS40444,IS40748,IS40759,IS40954,IS41113,IS41166,IS41204,IS41456,IS41884,IS41956,MS11693,MS17271,MS18431,MS25486 nsv5748 7 53406858 53432367 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8375 S 9 0 1 "" NA12156 nsv8086 7 53416628 53419571 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16171 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 dgv812n27 7 53422386 53557744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464457,nsv464454,nsv464455,nsv464451,nsv464453,nsv464458,nsv464460,nsv464462,nsv464452,nsv464459,nsv464456 M 1557 0 11 "" HGDP00041,HGDP00058,HGDP00098,HGDP00338,HGDP00407,HGDP00567,HGDP00614,HGDP00643,HGDP00738,HGDP00876,HGDP01172 nsv8087 7 53422642 53432286 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17052 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 esv27451 7 53422692 53434008 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11074 S 451 0 1 "" NA18502 nsv442047 7 53423096 53433669 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421888 7 53423097 53433669 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5103234,essv5106107,essv5151882,essv5036107,essv5048301,essv5090938,essv5158591,essv5048460,essv5117634,essv5049951,essv5003659,essv5078442,essv5026000,essv5090608,essv5158979,essv5111307,essv5076852,essv5023905,essv5015571 M 1184 0 19 "" NA18500,NA18917,NA18930,NA19036,NA19235,NA19237,NA19319,NA19334,NA19428,NA19463,NA19834,NA19836,NA20292,NA21400,NA21488,NA21490,NA21512,NA21514,NA21580 nsv514422 7 53423524 53432316 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627877 S 1414 0 1 "" nsv470233 7 53428179 53557744 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545565,nssv545521,nssv545599,nssv545554,nssv545632,nssv545643,nssv545543,nssv545588,nssv545532,nssv545621,nssv545610,nssv545576 M 443 0 12 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00058,HGDP00281,HGDP00313,HGDP00376,HGDP00604,HGDP00607,HGDP00614,HGDP00643,HGDP00682,HGDP00723,HGDP00876,HGDP00878 nsv516296 7 53428180 53557744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652730,nssv684944,nssv690964,nssv668796,nssv670215,nssv683934,nssv684112,nssv680280,nssv652265 M 2026 0 9 "" esv32580 7 53428561 53550648 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95501 S 51 0 1 "" 21847 esv2752159 7 53443151 53555285 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985028,essv6990063,essv6985027 M 771 0 1 "" BEC_820 dgv813n27 7 53486354 53557744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464467,nsv464470,nsv464473,nsv464469,nsv464471,nsv464463,nsv464464,nsv464466,nsv464465,nsv464468 M 1557 0 10 "" 1780854288_A,1780862075_A,HGDP00090,HGDP00281,HGDP00309,HGDP00313,HGDP00601,HGDP00604,HGDP00682,NINDS_219 dgv814n27 7 53501603 53557744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464477,nsv464478,nsv464475,nsv464474,nsv464479,nsv464476 M 1557 0 6 "" HGDP00013,HGDP00015,HGDP00140,HGDP00364,HGDP00376,HGDP00607 nsv888046 7 53581305 53629258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598185 S 6533 0 1 "" IS41263 nsv5749 7 53590587 53669695 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10544,nssv3529,nssv6127 M 9 3 0 "" NA12156,NA12878,NA18956 esv989146 7 53613125 53613755 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564363 S 3 1 0 "" HuRef esv992319 7 53613644 53616579 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564972 S 3 0 1 "" HuRef nsv509197 7 53617563 53622059 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619483 S 4 1 0 "" NA10860 esv268110 7 53619978 53626052 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565848,essv2540826,essv2546382,essv2542305,essv2522957,essv2543901,essv2556547,essv2545467,essv2535193,essv2554279,essv2552157,essv2530835,essv2537302,essv2528503,essv2532098,essv2544895,essv2563920,essv2559378,essv2534076,essv2531464,essv2573725,essv2536303,essv2548986,essv2547846,essv2563400 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07347,NA10847,NA11829,NA11831,NA11881,NA11919,NA11931,NA11992,NA11994,NA12003,NA12249,NA12287,NA12489,NA12873,NA12878,NA12891,NA18505,NA18526,NA18603,NA18638,NA18916,NA18961,NA18964 esv274348 7 53619978 53626073 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582049,essv2582438,essv2583194,essv2584473 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 nsv521644 7 53622267 53625364 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698264 S 2026 0 1 "" esv2077651 7 53670297 53670709 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628559 S 1 0 1 "" NA18507 esv2753 7 53670371 53670809 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25194 S 1 0 1 Single Asian sample YH "" YH esv1704600 7 53716739 53716801 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4003962 S 2 0 1 FLJ45974 HuRef esv3767 7 53726308 53726954 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26208 S 1 0 1 Single Asian sample YH FLJ45974 YH nsv831006 7 53736906 53897768 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446130 S 95 0 1 FLJ45974 nsv518399 7 53756904 53762189 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695829 S 2026 0 1 FLJ45974 nsv888047 7 53780777 53998890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574206 S 6533 0 1 FLJ45974 IS33530 nsv365836 7 53819662 53825545 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384414 M 24 FLJ45974 nsv522664 7 53844156 53846273 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706066 S 2026 0 1 FLJ45974 nsv888048 7 53911304 54055256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553351 S 6533 0 1 "" MS19941 dgv2082e1 7 53942808 54103854 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4219,esv465 M 271 0 0 "" NA18603 nsv8088 7 53945911 53951011 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14632 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18942 esv269020 7 54003174 54006319 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515714 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 esv270946 7 54044648 54044976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513296,essv2509152,essv2507326,essv2509601,essv2510457 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA18909,NA18912,NA19129,NA19172 nsv8089 7 54062468 54066714 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15468 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv507393 7 54090344 54096344 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621877 S 4 1 0 "" NA10860 nsv437548 7 54144606 54164542 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467429 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 nsv5750 7 54145755 54170942 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8376 S 9 0 1 "" NA12156 nsv442048 7 54152898 54158714 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514423 7 54153844 54156908 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627878 S 1414 0 1 "" esv2421716 7 54153968 54158714 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053973,essv5156854,essv5050386,essv5079945,essv5005101,essv5112588,essv5096532,essv5157262,essv5046361,essv5089089,essv5033576,essv5089221,essv5137094,essv5135540,essv5155974,essv5125817,essv5146006,essv5140214,essv5073636,essv5009274,essv5127963,essv5019820,essv5114586,essv5147966 M 1184 0 24 "" NA18852,NA18854,NA19206,NA19208,NA19214,NA19215,NA19236,NA19311,NA19467,NA19703,NA19705,NA20289,NA20290,NA20341,NA21336,NA21339,NA21363,NA21415,NA21435,NA21453,NA21524,NA21525,NA21647,NA21648 nsv517010 7 54155997 54156583 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666860,nssv657567,nssv678799,nssv664149,nssv689320,nssv671632,nssv654235,nssv688942,nssv665483,nssv662784,nssv690874,nssv660313,nssv653606,nssv663094,nssv681093,nssv677289,nssv655103,nssv665978,nssv664960,nssv658630,nssv665505,nssv655799,nssv690115 M 2026 0 23 "" nsv818505 7 54155997 54156583 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417883,nssv1417880 M 112 0 2 "" NA18852,NA18854 nsv528950 7 54214031 54251612 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705644 S 2026 1 0 HPVC1 nsv525050 7 54216983 54222123 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701095 S 2026 1 0 "" nsv522755 7 54222123 54251612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698394 S 2026 0 1 HPVC1 nsv526772 7 54231200 54251612 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703124 S 2026 0 1 HPVC1 dgv815n27 7 54233081 54380102 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464482,nsv464481,nsv464480 M 1557 3 0 HPVC1 HGDP00066,HGDP00157,HGDP00210 nsv7397 7 54234489 54377936 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2650,nssv9712,nssv9711,nssv11143,nssv10545,nssv9440,nssv9439,nssv3530,nssv11144,nssv3531 M 9 0 0 HPVC1 NA12878,NA15510,NA18507,NA18517,NA18555,NA18956 nsv508454 7 54241430 54283324 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618810 S 4 0 1 "" NA10860 nsv510958 7 54241430 54363274 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621598,nssv624315 M 4 0 0 "" NA15510,NA18994 nsv293 7 54247398 54324156 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv293 S 1 0 0 "" NA15510 nsv888049 7 54260557 54306643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505003 S 6533 1 0 "" SP52951 nsv888050 7 54260557 54331952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505711,nssv1517033,nssv1517377 M 6533 3 0 "" SP53863,SP57045,SP57268 nsv888051 7 54260557 54542099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531133,nssv1561539 M 6533 0 2 "" MS10350,MS25087 nsv522593 7 54274174 54331952 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705983 S 2026 1 0 "" nsv294 7 54293296 54359753 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv294 S 1 0 0 "" NA15510 nsv831007 7 54293657 54446768 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446131 S 95 1 0 "" nsv824103 7 54304400 54306153 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423480 S 31 0 1 "" NA18999 esv2059994 7 54337634 54338086 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551497 S 1 0 1 "" NA18507 esv1003378 7 54341385 54360293 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563515 S 3 0 1 "" HuRef esv27115 7 54348136 54355770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10131 S 451 0 1 "" NA12749 esv5018 7 54383145 54383628 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27459 S 1 0 1 Single Asian sample YH "" YH nsv510084 7 54406344 54412344 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621309,nssv618260 M 4 0 2 "" CHM,NA15510 esv2483581 7 54429441 54432997 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363912 S 1 0 1 "" NA18507 esv2531514 7 54449576 54451029 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365717 S 1 0 1 "" NA18507 nsv5751 7 54462556 54493485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10546 S 9 1 0 "" NA18956 nsv888052 7 54551257 54657313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584588 S 6533 1 0 LOC285878,VSTM2A IS37065 nsv819740 7 54557887 54565477 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419831 S 2 0 1 "" AK1 esv2608704 7 54563616 54565173 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385130 S 1 0 1 "" NA18507 esv2213489 7 54563813 54565117 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700656 S 1 0 1 "" NA18507 esv29744 7 54563983 54565024 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10924 S 451 0 4 "" NA15510,NA18909,NA19129,NA19147 dgv1105n67 7 54564234 54564941 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824106,nsv824105,nsv824104 M 31 0 12 "" AK16,AK18,AK4,NA18526,NA18564,NA18942,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv824107 7 54564234 54565164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426764,nssv1427558 M 31 0 2 "" AK6,AK8 esv2272226 7 54600066 54600460 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4786106 S 1 0 1 LOC285878,VSTM2A NA18507 esv1772097 7 54703082 54703131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812810 S 2 0 1 "" HuRef esv259534 7 54784451 54784741 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394123,essv2393659,essv2394305 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19240 esv259986 7 54784460 54784757 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398482,essv2401129,essv2396244,essv2397598,essv2399359,essv2397334,essv2395643,essv2397674,essv2399457,essv2394630,essv2397888,essv2395330,essv2394425,essv2397490,essv2395422,essv2394545,essv2398333,essv2394854,essv2399794,essv2396365,essv2395928,essv2400466 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12006,NA12044,NA12287,NA12878,NA18501,NA18502,NA18858,NA18870,NA18907,NA18916,NA18943,NA18947,NA18948,NA18965,NA19093,NA19114,NA19129,NA19138,NA19238,NA19240 nsv366899 7 54784643 54784643 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385477 M 24 "" esv34064 7 54796863 54856627 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv888053 7 54860911 54950335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600672 S 6533 0 1 "" IS41909 nsv888054 7 54860911 54990148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598521,nssv1599328 M 6533 0 2 "" IS40890,IS41581 nsv888055 7 54860911 55126843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552410 S 6533 0 1 EGFR MS19414 nsv888056 7 54916731 54990148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557073 S 6533 0 1 "" MS22353 nsv518304 7 54990895 55004253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695735 S 2026 1 0 "" nsv5752 7 55030518 55075436 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8377 S 9 0 1 EGFR NA12156 nsv528853 7 55032613 55055909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705532 S 2026 0 1 EGFR nsv5753 7 55080510 55106031 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8378 S 9 1 0 EGFR NA12156 esv22171 7 55102374 55103361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13403 S 451 0 3 EGFR NA19129,NA19147,NA19225 nsv888057 7 55148936 55181937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567471 S 6533 0 1 EGFR IS31090 nsv515544 7 55174355 55177131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663867,nssv664419 M 2026 0 2 EGFR nsv888058 7 55181937 55220202 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546635 S 6533 0 1 EGFR MS17208 nsv888059 7 55186653 55213001 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570727 S 6533 0 1 EGFR IS32322 esv26220 7 55201497 55202826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16758 S 451 0 5 EGFR NA12828,NA18502,NA18508,NA18909,NA19190 esv5645 7 55201804 55202611 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28086 S 1 0 1 EGFR SJK nsv366872 7 55202018 55202833 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385450 M 24 EGFR esv2590945 7 55202633 55203442 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261875 S 1 1 0 EGFR NA18507 nsv5755 7 55244870 55272125 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2651 S 9 0 1 "" NA18555 esv1009523 7 55251236 55253313 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564371 S 3 0 1 "" HuRef nsv436547 7 55251955 55257115 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466346 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2458640 7 55253493 55257077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254508 S 1 0 1 "" NA18507 nsv511962 7 55253647 55256580 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624504 S 1 0 1 "" 1 nsv514424 7 55253700 55257804 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627879 S 1414 0 0 "" esv2202521 7 55254073 55256755 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904974 S 1 0 1 "" NA18507 esv2930 7 55254211 55256632 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25371 S 1 0 1 Single Asian sample YH "" YH dgv233n6 7 55254238 55256570 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv365389,nsv366210 M 24 "" esv997703 7 55254243 55256560 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569431 S 3 0 1 "" HuRef esv1218283 7 55254252 55256570 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812016 S 2 0 1 "" HuRef esv7021 7 55254254 55256557 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29462 S 1 0 1 "" SJK nsv824108 7 55260525 55268178 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441143 S 31 1 0 "" NA18969 esv1714322 7 55272917 55272982 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109678 S 2 0 1 "" HuRef nsv365474 7 55272945 55273009 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384052 M 24 "" esv23398 7 55322838 55416367 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14951 S 451 1 0 LANCL2 NA12828 esv269487 7 55336690 55337027 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516767,essv2514139,essv2515563,essv2516032 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12043,NA12815,NA12873 nsv888060 7 55350419 55481096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554367 S 6533 0 1 LANCL2 MS20753 esv991253 7 55362055 55372435 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564769 S 3 0 1 "" HuRef nsv888061 7 55404581 55448883 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517349 S 6533 0 1 LANCL2 SP57266 nsv818506 7 55446495 55450327 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418379,nssv1417532 M 112 2 0 LANCL2 NA10847,NA18968 esv997261 7 55586234 55590997 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564429 S 3 0 1 VOPP1 HuRef esv28230 7 55587294 56352906 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20179,esv12412,esv17341,esv11131,esv10581 M 451 4 13 CCT6A,CHCHD2,FKBP9L,GBAS,LOC389493,MRPS17,PHKG1,PSPH,SEPT14,SNORA15,SUMF2,VOPP1,ZNF713 NA06985,NA07037,NA07045,NA11993,NA11995,NA12044,NA12156,NA12287,NA12776,NA12828,NA18517,NA18861,NA18909,NA18916,NA19129,NA19225 nsv469822 7 55597774 55760426 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649843 M 265 0 0 Samples from several populations that are part of the HapMap project. FKBP9L,VOPP1 nsv517559 7 55622575 55629351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687947,nssv652356,nssv696020,nssv674549,nssv676766,nssv677778,nssv674428,nssv676883,nssv666770,nssv692860,nssv693843,nssv672252 M 2026 0 12 "" nsv888062 7 55622575 55635657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576486 S 6533 0 1 "" IS34066 esv990698 7 55644377 55645281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574297 S 3 0 1 "" HuRef esv2605087 7 55694840 55696446 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343835 S 1 0 1 "" NA18507 nsv888063 7 55695970 55866990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592638 S 6533 1 0 FKBP9L,SEPT14 IS39243 nsv469612 7 55719888 55843657 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649536 M 265 0 0 Samples from several populations that are part of the HapMap project. FKBP9L,SEPT14 esv991887 7 55776672 55779607 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586605 S 3 0 1 "" HuRef nsv510959 7 55795145 55838975 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624316 S 4 0 0 SEPT14 NA18994 nsv888064 7 55799215 56072033 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562539 S 6533 1 0 GBAS,MRPS17,PSPH,SEPT14,ZNF713 MS25625 esv2092564 7 55800175 55800705 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586982 S 1 0 1 "" NA18507 esv268654 7 55818813 55818898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517252,essv2519018 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18970,NA19141 esv4439 7 55939223 55939715 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26880 S 1 0 1 Single Asian sample YH "" YH esv7537 7 55939264 55939654 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29978 S 1 0 1 "" SJK esv1422277 7 55939266 55939630 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205840 S 2 0 1 "" HuRef nsv365792 7 55957732 55963083 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384370 M 24 ZNF713 nsv824110 7 55973245 55973965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429148 S 31 0 1 ZNF713 AK12 esv1007870 7 55993811 56008131 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564871 S 3 0 0 GBAS HuRef esv1926518 7 55998731 55999188 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946069 S 1 0 1 "" NA18507 esv1571450 7 56048242 56048242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119922 S 2 1 0 PSPH HuRef dgv1106n67 7 56054698 56056993 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824114,nsv824115,nsv824116,nsv824111,nsv824118,nsv824112,nsv824113,nsv824117 M 31 13 0 PSPH AK10,AK12,AK14,AK18,NA18547,NA18552,NA18564,NA18592,NA18942,NA18947,NA18968,NA18969,NA18972 nsv819501 7 56054703 56056675 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419364 S 2 1 0 PSPH AK1 dgv1107n67 7 56055695 56056993 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824119,nsv824121 M 31 2 0 PSPH AK20,NA18997 nsv824122 7 56055919 56056478 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423482 S 31 1 0 PSPH NA18999 nsv526294 7 56138983 56590124 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702575 S 2026 1 0 CHCHD2,DKFZp434L192,LOC389493,LOC650226 esv1584077 7 56150598 56150598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242863 S 2 1 0 LOC389493 HuRef nsv5756 7 56171158 56214338 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2652,nssv3532 M 9 0 2 "" NA12878,NA18555 esv997584 7 56176161 56180216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563500 S 3 0 1 "" HuRef nsv508455 7 56180041 56224595 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622574 S 4 0 1 "" NA18994 esv1005540 7 56184042 56189299 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564192 S 3 0 1 "" HuRef esv2549937 7 56184819 56188664 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303794 S 1 0 1 "" NA18507 esv2340369 7 56185076 56187838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729737 S 1 0 1 "" NA18507 nsv511963 7 56185165 56188125 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624505 S 1 0 1 "" 1 nsv499322 7 56185234 56187753 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586023 S 9 0 1 "" esv268816 7 56212370 56212722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514578,essv2516685,essv2518721,essv2518070,essv2516051,essv2517762,essv2515800,essv2519051,essv2514010,essv2518307,essv2513716 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11881,NA12045,NA12872,NA12873,NA12878,NA18969,NA19141,NA19143,NA19240 esv273787 7 56212370 56212722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581419 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv831008 7 56213269 56370601 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446132 S 95 1 0 "" nsv510960 7 56226935 56425374 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622381 S 4 0 0 "" NA10860 esv1015144 7 56243242 56243242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597875 S 2 1 0 "" HuRef esv1002066 7 56281574 56281892 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568030 S 3 0 1 "" HuRef esv33366 7 56285339 56285545 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98842 S 51 1 0 "" 21606 nsv888065 7 56286544 56548041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592639 S 6533 1 0 DKFZp434L192,LOC650226 IS39243 esv2752160 7 56292285 57331131 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984584,essv6984583,essv6984582,essv6984581,essv6987628 M 771 1 0 DKFZp434L192,GUSBP10,LOC100130849,LOC650226,MIR4283-1,MIR4283-2,ZNF479 BEC_720 nsv509198 7 56359658 56425374 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623507,nssv620879 M 4 2 0 "" NA15510,NA18994 esv27034 7 56386823 56413096 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19896,esv20779,esv12623 M 451 7 17 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18861,NA18909,NA18916,NA19099,NA19190 nsv5757 7 56395878 56429369 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2653,nssv633,nssv6129,nssv10548,nssv11146,nssv3533,nssv6128,nssv6130,nssv634,nssv4981,nssv4979,nssv2760,nssv4980 M 9 7 0 "" NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 esv992296 7 56402305 56410436 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586714 S 3 0 1 "" HuRef nsv295 7 56405719 56406419 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv295 S 1 1 0 "" NA15510 nsv888066 7 56434234 56661256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582530 S 6533 1 0 DKFZp434L192,LOC650226 IS35982 nsv8090 7 56479371 56740017 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15137,nssv15157,nssv15205,nssv14874,nssv15538,nssv17391,nssv17323,nssv14822,nssv17337,nssv16201 M 31 0 10 Samples from several populations that are part of the HapMap project. DKFZp434L192,LOC650226 NA07029,NA11830,NA18504,NA18563,NA18860,NA18975,NA18980,NA19132,NA19144,NA19240 esv3432 7 56529167 56578810 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25873 S 1 0 0 Single Asian sample YH DKFZp434L192 YH nsv831009 7 56534123 56721807 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446133 S 95 0 1 "" nsv5758 7 56604715 56672827 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4982,nssv635,nssv8380 M 9 0 3 "" NA12156,NA19129,NA19240 nsv508456 7 56612080 56631825 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618811 S 4 0 1 "" NA10860 nsv436559 7 56618921 56627234 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466347 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv167e180 7 56619890 56626289 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989449,esv1002393 M 3 0 1 "" HuRef nsv499653 7 56619973 56626021 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586024 S 9 0 1 "" nsv888067 7 56636051 56695381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594627 S 6533 0 1 "" IS39958 esv23105 7 56646253 56654172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16130 S 451 0 12 "" NA11894,NA11993,NA12006,NA12287,NA12776,NA15510,NA18505,NA19099,NA19108,NA19129,NA19147,NA19225 nsv527305 7 56647326 56673671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703725 S 2026 0 1 "" nsv5759 7 56701319 56747969 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4983,nssv6131,nssv3534,nssv636 M 9 0 4 "" NA12156,NA12878,NA19129,NA19240 nsv514425 7 56729460 56735776 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627880 S 1414 0 0 "" esv8019 7 56729465 56737439 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30460 S 1 0 1 "" SJK nsv499619 7 56729474 56737446 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586025 S 9 0 1 "" esv21628 7 56729523 56737442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19115 S 451 0 16 "" NA06985,NA07045,NA11931,NA11995,NA12156,NA12287,NA12776,NA12878,NA18858,NA18907,NA19099,NA19108,NA19129,NA19147,NA19225,NA19240 nsv824123 7 56729530 56735824 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429894,nssv1441145,nssv1421783,nssv1427384,nssv1429152,nssv1440674,nssv1433552,nssv1426997 M 31 0 8 "" AK12,AK14,NA18547,NA18592,NA18947,NA18968,NA18969,NA18997 nsv819462 7 56729555 56738211 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419876 S 2 0 1 "" AK1 esv2422118 7 56729607 56736308 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5080225,essv5050681,essv5031859,essv5061229,essv5039073,essv5021571,essv5099500,essv5031674,essv5067344,essv5047641,essv5063059,essv5014074,essv5006535,essv5113978,essv5106204,essv5024337,essv5005159,essv5089234,essv5122866,essv5129400,essv5008806,essv5061139,essv5071008,essv5056320,essv5081016,essv5066713,essv5106493,essv5155402,essv5068959,essv5032188,essv5012285,essv5020375,essv5022106,essv5063561,essv5139930,essv5022316,essv5077554,essv5032148,essv5147086,essv5065512,essv5134530,essv5131273,essv5004192,essv5101149,essv5015496,essv5070336,essv5150599,essv5020194,essv5035294,essv5033303,essv5039972,essv5011877,essv5149329,essv5024493,essv5092053,essv5139435,essv5015453,essv5013826,essv5043499,essv5116956,essv5036926,essv5026366,essv5047966,essv5049896,essv5055885,essv5142307,essv5062437,essv5081871,essv5056829,essv5117527,essv5132292,essv5102543,essv5114408,essv5156094,essv5134486,essv5109870,essv5019541,essv5128125,essv5071618,essv5045812,essv5024501,essv5041815,essv5025059,essv5007684,essv5012323,essv5157604,essv5040658,essv5024849,essv5061430,essv5019818,essv5073753,essv5028603,essv5161081,essv5098769,essv5080545,essv5056166,essv5149755,essv5115230,essv5013251,essv5140352,essv5157047,essv5104283,essv5139592,essv5125547,essv5077435,essv5116342,essv5009027,essv5108187,essv5070747,essv5010850,essv5092770,essv5006051,essv5069409,essv5089539,essv5043290,essv5149460,essv5036813,essv5114690,essv5039530,essv5010676,essv5036692,essv5069011,essv5103510,essv5109295,essv5126265,essv5149412,essv5029254,essv5078135,essv5069740,essv5016874,essv5054761,essv5126744,essv5066983,essv5115199,essv5140755,essv5027801,essv5115832,essv5136802,essv5140802,essv5032233,essv5127259,essv5083061,essv5071056,essv5009344,essv5144707,essv5108619,essv5035671,essv5029620,essv5151862,essv5020080,essv5025635,essv5124166,essv5138565,essv5014241,essv5060151,essv5095762,essv5036784,essv5081990,essv5122107,essv5054291,essv5109835,essv5008787,essv5004500,essv5125998,essv5157918,essv5044391,essv5034278,essv5119467,essv5126787,essv5086587,essv5106850,essv5101543,essv5067880,essv5036058,essv5056955,essv5037429,essv5054738,essv5010306,essv5135899,essv5076470,essv5119742,essv5157328,essv5045660,essv5120246,essv5057128,essv5093644,essv5031028,essv5012878,essv5105089,essv5135325,essv5122046,essv5066722,essv5036239,essv5022257,essv5155199,essv5157363,essv5072798,essv5017318,essv5044640,essv5039991,essv5113182,essv5090145,essv5090379,essv5032080,essv5101181,essv5060108,essv5097045,essv5012206,essv5033401,essv5043781,essv5087301,essv5152558,essv5018423,essv5101876,essv5006712,essv5134394,essv5140203,essv5161009,essv5046599,essv5027184,essv5103195,essv5088604,essv5123662,essv5149553,essv5098120,essv5153135,essv5141020,essv5148552,essv5098232,essv5098532,essv5087274,essv5053949,essv5025029,essv5048067,essv5031666,essv5082858,essv5143998,essv5107368,essv5109040,essv5015854,essv5016332,essv5086754,essv5117217,essv5083512,essv5051501,essv5158255,essv5009716,essv5066222,essv5143345,essv5088071,essv5042250,essv5097495,essv5033329,essv5148400,essv5111044,essv5105383,essv5035054,essv5041088,essv5035480,essv5101701,essv5018227,essv5106477,essv5087447,essv5059595,essv5044342,essv5015318,essv5044040,essv5086744,essv5047181,essv5118801,essv5157849,essv5112867,essv5123975,essv5009820,essv5136413,essv5039921,essv5028660,essv5158722,essv5101458,essv5063835,essv5093022,essv5143111,essv5077280,essv5110867,essv5109375,essv5065444,essv5045388,essv5136620,essv5097770,essv5058244,essv5045008,essv5080208,essv5081957,essv5011007,essv5078375,essv5100959,essv5061923,essv5152941,essv5132454,essv5045235,essv5004574,essv5148020,essv5089709,essv5049187,essv5106952,essv5152989,essv5120629,essv5052838,essv5060964,essv5145706,essv5156175,essv5107265,essv5042888,essv5094087,essv5029575,essv5121985,essv5004933,essv5151389,essv5112942,essv5005871,essv5073553,essv5048777,essv5101490,essv5148747,essv5127734,essv5116406,essv5067518,essv5042401,essv5031685,essv5003713,essv5090700,essv5148562,essv5160319,essv5150964,essv5124361,essv5034888,essv5134328,essv5138179,essv5083242,essv5089369,essv5089136,essv5040819,essv5016379,essv5123585,essv5127834,essv5105316,essv5140205,essv5015044,essv5102748,essv5110643,essv5028234,essv5061294,essv5103994,essv5063694,essv5096811,essv5145898,essv5028820,essv5109633,essv5085588,essv5051201,essv5150330,essv5101805,essv5047069,essv5096300,essv5080895,essv5012557,essv5038489,essv5092495,essv5017019,essv5072032,essv5008149,essv5024463,essv5035451,essv5034427,essv5003551,essv5134331,essv5073967,essv5033096,essv5149220,essv5038370,essv5031903,essv5099201,essv5098549,essv5044306,essv5048111,essv5115578,essv5025124,essv5130885,essv5158206,essv5061626,essv5144411,essv5025636,essv5018969,essv5136429,essv5085484,essv5049389,essv5006946,essv5056023,essv5042722,essv5110973,essv5129926,essv5140941,essv5088581,essv5026461,essv5029727,essv5018167,essv5139532,essv5159953,essv5007613,essv5085087,essv5047255,essv5008439,essv5157565,essv5149072,essv5036994,essv5078785,essv5065445,essv5136980,essv5033871,essv5132548,essv5132716,essv5041087,essv5029318,essv5102144,essv5007246,essv5101491,essv5122629,essv5077824,essv5136960,essv5023685,essv5021385,essv5109926,essv5119865,essv5086479,essv5160418,essv5136464,essv5009766,essv5107988,essv5047547,essv5082281,essv5047346,essv5152738,essv5062236,essv5004338,essv5147791,essv5053167,essv5048277,essv5016104,essv5117185,essv5132612,essv5077923,essv5036663 M 1184 0 452 "" NA06985,NA06986,NA06994,NA06995,NA06997,NA07014,NA07022,NA07029,NA07045,NA07051,NA07347,NA07348,NA07357,NA07435,NA10831,NA10835,NA10837,NA10843,NA10845,NA10846,NA10852,NA10853,NA10854,NA10855,NA10864,NA11830,NA11832,NA11839,NA11843,NA11882,NA11893,NA11918,NA11919,NA11920,NA11931,NA11995,NA12043,NA12045,NA12144,NA12145,NA12156,NA12248,NA12272,NA12273,NA12275,NA12282,NA12283,NA12287,NA12335,NA12340,NA12343,NA12376,NA12400,NA12546,NA12707,NA12716,NA12750,NA12752,NA12753,NA12760,NA12763,NA12766,NA12767,NA12775,NA12776,NA12778,NA12815,NA12818,NA12829,NA12830,NA12832,NA12842,NA12865,NA12875,NA12878,NA12891,NA17965,NA17966,NA17967,NA17968,NA17970,NA17980,NA17987,NA17990,NA17997,NA17999,NA18106,NA18107,NA18120,NA18125,NA18131,NA18132,NA18139,NA18140,NA18143,NA18144,NA18150,NA18151,NA18152,NA18153,NA18158,NA18160,NA18166,NA18486,NA18487,NA18497,NA18499,NA18504,NA18510,NA18518,NA18519,NA18520,NA18524,NA18532,NA18534,NA18545,NA18550,NA18563,NA18573,NA18576,NA18592,NA18593,NA18595,NA18596,NA18602,NA18610,NA18612,NA18614,NA18615,NA18616,NA18621,NA18623,NA18627,NA18630,NA18634,NA18638,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18694,NA18748,NA18757,NA18858,NA18860,NA18867,NA18870,NA18871,NA18873,NA18874,NA18875,NA18910,NA18912,NA18917,NA18933,NA18934,NA18944,NA18947,NA18948,NA18954,NA18957,NA18959,NA18964,NA18965,NA18968,NA18969,NA18975,NA18976,NA18979,NA18980,NA18987,NA18994,NA18995,NA18997,NA19000,NA19002,NA19005,NA19010,NA19028,NA19044,NA19060,NA19066,NA19067,NA19068,NA19074,NA19078,NA19080,NA19085,NA19086,NA19093,NA19094,NA19095,NA19098,NA19099,NA19101,NA19103,NA19108,NA19109,NA19116,NA19117,NA19119,NA19120,NA19121,NA19123,NA19127,NA19129,NA19131,NA19132,NA19137,NA19138,NA19139,NA19144,NA19147,NA19148,NA19159,NA19160,NA19161,NA19178,NA19180,NA19181,NA19183,NA19185,NA19186,NA19200,NA19202,NA19209,NA19210,NA19211,NA19224,NA19225,NA19239,NA19240,NA19256,NA19258,NA19307,NA19308,NA19316,NA19319,NA19321,NA19324,NA19328,NA19334,NA19347,NA19350,NA19352,NA19359,NA19360,NA19373,NA19374,NA19375,NA19377,NA19385,NA19390,NA19398,NA19404,NA19429,NA19431,NA19436,NA19443,NA19446,NA19448,NA19451,NA19456,NA19457,NA19462,NA19467,NA19470,NA19472,NA19654,NA19656,NA19664,NA19665,NA19678,NA19680,NA19681,NA19682,NA19683,NA19708,NA19714,NA19716,NA19718,NA19725,NA19747,NA19748,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19774,NA19776,NA19779,NA19780,NA19781,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19796,NA19834,NA19915,NA19916,NA19918,NA19985,NA20126,NA20127,NA20128,NA20129,NA20277,NA20281,NA20289,NA20295,NA20319,NA20335,NA20341,NA20345,NA20346,NA20363,NA20364,NA20502,NA20510,NA20517,NA20519,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20542,NA20544,NA20589,NA20755,NA20766,NA20769,NA20773,NA20775,NA20785,NA20786,NA20790,NA20792,NA20797,NA20800,NA20802,NA20807,NA20808,NA20813,NA20828,NA20851,NA20859,NA20862,NA20874,NA20877,NA20879,NA20881,NA20885,NA20890,NA20891,NA20892,NA20900,NA20901,NA20907,NA21088,NA21094,NA21097,NA21101,NA21105,NA21108,NA21113,NA21116,NA21117,NA21123,NA21142,NA21143,NA21297,NA21302,NA21303,NA21311,NA21313,NA21320,NA21333,NA21352,NA21353,NA21356,NA21357,NA21362,NA21363,NA21364,NA21370,NA21378,NA21381,NA21383,NA21391,NA21403,NA21408,NA21414,NA21415,NA21421,NA21434,NA21436,NA21438,NA21439,NA21451,NA21457,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21486,NA21487,NA21489,NA21490,NA21491,NA21513,NA21514,NA21521,NA21523,NA21525,NA21526,NA21527,NA21575,NA21578,NA21580,NA21583,NA21597,NA21615,NA21619,NA21635,NA21636,NA21650,NA21678,NA21682,NA21683,NA21693,NA21716,NA21717,NA21718,NA21722,NA21733,NA21739,NA21740,NA21741,NA21768 nsv441949 7 56729607 56736308 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33588 7 56731715 56735651 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98801,essv92890 M 51 0 2 "" 21606,21939 nsv471639 7 56749798 56932979 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549214,nssv549213,nssv549211,nssv549216,nssv549208,nssv549215,nssv549220,nssv549218,nssv549209,nssv549221,nssv549212,nssv549210,nssv549217,nssv549219 M 48 11 3 LOC100130849 JK1051,JK1061,NA10469,NA10471,NA10473,NA10495,NA11323,NA11521,NA11523,NA15726,NA17014,NA17020,NA17059,P86GA nsv831010 7 56767303 56910741 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446134 S 95 0 1 LOC100130849 nsv8092 7 56806855 56822221 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17367 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv509199 7 56816270 56895007 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620880,nssv623508 M 4 2 0 "" NA15510,NA18994 nsv831011 7 56817447 56952730 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446135 S 95 0 1 LOC100130849 esv22516 7 56831019 56864221 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15789,esv10597 M 451 21 0 "" NA06985,NA11995,NA12004,NA12239,NA12414,NA12489,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19147,NA19240 nsv5760 7 56834780 56873986 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2655,nssv637,nssv3535,nssv10549,nssv9902,nssv6132,nssv4984 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv8093 7 56842388 56845513 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15726,nssv15225 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10863,NA18537 nsv8094 7 56845513 56865537 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15146,nssv18330,nssv17112,nssv15167,nssv14149,nssv15929,nssv17451,nssv16238,nssv15568 M 31 9 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18563,NA18572,NA18860,NA19007,NA19144,NA19173,NA19221 nsv888068 7 57022922 57170144 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592640 S 6533 1 0 MIR4283-1,MIR4283-2 IS39243 nsv888069 7 57037278 57153587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543498 S 6533 0 1 "" MS16153 nsv888070 7 57099701 57190966 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553189 S 6533 1 0 "" MS19798 nsv509200 7 57120539 57135418 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618065,nssv620881,nssv623509,nssv619484 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv8095 7 57149424 57151198 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15498 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv888071 7 57155843 57352064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599308 S 6533 1 0 GUSBP10,ZNF479 IS41565 nsv464484 7 57212608 57593745 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540399 S 1557 1 0 GUSBP10,MIR3147,ZNF716 1798860210_A nsv520659 7 57212608 57872045 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674395,nssv704857,nssv679133,nssv673625,nssv683032,nssv704858 M 2026 6 0 GUSBP10,MIR3147,ZNF716 esv2752161 7 57279775 57923922 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982965,essv6982964,essv6988607,essv6982963 M 771 1 0 MIR3147,ZNF716 BEC_529 nsv507394 7 57287302 57293302 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621878 S 4 1 0 "" NA10860 esv4215 7 57288607 57289023 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26656 S 1 0 1 Single Asian sample YH "" YH esv25486 7 57288946 57293409 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11854 S 451 0 3 "" NA12004,NA18505,NA18511 esv2482688 7 57350397 57351323 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353833 S 1 1 0 "" NA18507 esv270356 7 57350874 57351210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519222,essv2514164,essv2518817,essv2518573,essv2514936,essv2516384,essv2515739,essv2517900,essv2516056,essv2514375,essv2517217 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12043,NA12045,NA12287,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA18970 esv1358867 7 57350909 57350909 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869494 S 2 1 0 "" HuRef esv2640177 7 57368001 57369493 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248513 S 1 0 1 "" NA18507 esv2409886 7 57368687 57369316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750648 S 1 0 1 "" NA18507 esv8880 7 57368839 57369168 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31321 S 1 0 1 "" SJK nsv365728 7 57382201 57383189 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384306 M 24 "" nsv5761 7 57396145 57441044 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8381 S 9 0 1 "" NA12156 nsv296 7 57462039 57487506 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv296 S 1 1 0 MIR3147 NA15510 nsv5762 7 57462039 57491738 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11147,nssv9903,nssv4985,nssv2657,nssv640,nssv10550,nssv3536,nssv6136,nssv9441 M 9 9 0 MIR3147 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv509201 7 57480077 57483141 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619485,nssv623510 M 4 2 0 "" NA10860,NA18994 esv2752162 7 57480106 57923922 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985492,essv6981144,essv6981145,essv6981143 M 771 1 0 ZNF716 BEC_358 nsv824124 7 57481727 57500821 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426765 S 31 1 0 "" AK6 esv1671519 7 57481832 57481832 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3912362 S 2 1 0 "" HuRef dgv816n27 7 57492743 57643772 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464485,nsv464487 M 1557 2 0 ZNF716 HGDP00964,HGDP01245 dgv2083e1 7 57500969 57541078 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19322,esv1205 M 271 0 0 ZNF716 NA12872 esv2752163 7 57500969 57616485 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985526,essv6981278,essv6981279 M 771 1 0 ZNF716 BEC_376 nsv464486 7 57502883 57593745 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540401 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF716 HGDP00945 esv23540 7 57548798 57561059 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19783 S 451 0 7 "" NA07037,NA11894,NA11995,NA12287,NA18517,NA18861,NA19129 esv5902 7 57550911 57556885 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28343 S 1 0 1 "" SJK esv2603711 7 57554893 57560518 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192674 S 1 0 1 "" NA18507 nsv436527 7 57554896 57559947 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466351 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1728245 7 57556774 57556774 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734720 S 2 1 0 "" HuRef dgv2084e1 7 57569466 57963516 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv890,essv18905,esv501,essv11004 M 271 0 0 "" NA12717,NA19000,NA19143 esv2509054 7 57572171 57573851 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323193 S 1 0 1 "" NA18507 esv2069583 7 57572578 57573330 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582925 S 1 0 1 "" NA18507 esv1010141 7 57572768 57573106 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576483 S 3 0 1 "" HuRef esv2620988 7 57572775 57573113 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267362 S 1 0 1 "" NA18507 esv9108 7 57572780 57573116 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31549 S 1 0 1 "" SJK esv1556511 7 57572780 57573119 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117873 S 2 0 1 "" HuRef nsv433384 7 57637227 58032993 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463265 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv22349 7 57642015 57643164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21062 S 451 0 2 "" NA12776,NA19099 nsv520877 7 57643772 57890326 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697663 S 2026 0 1 "" nsv5763 7 57670794 57703246 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10551 S 9 1 0 "" NA18956 esv25752 7 57672481 57714003 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15840 S 451 3 0 "" NA07045,NA18858,NA19240 nsv442049 7 57701877 57723958 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8096 7 57702675 57719879 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15543,nssv14904,nssv17353,nssv17843,nssv15255 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07048,NA18504,NA18537,NA18972,NA18975 essv10510 7 57711993 57882795 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv511382 7 57736466 57761635 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625988 S 1 1 0 "" 1 esv29740 7 57737500 57780156 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9871 S 451 2 0 "" NA12239,NA18511 nsv820352 7 57737500 57780156 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420656 S 1 1 0 "" NA10851 essv3929 7 57753860 57862016 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv267471 7 57772781 57772866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515597,essv2517180 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12815,NA18970 nsv818507 7 57793473 57890326 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418160 S 112 1 0 "" NA19143 essv12019 7 57804817 57872045 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv1249268 7 57812586 57812586 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860806 S 2 1 0 "" HuRef esv25017 7 57824101 57828645 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11972 S 451 0 2 "" NA19099,NA19108 nsv8097 7 57828264 57842440 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17142,nssv17481,nssv18360 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19221 nsv442050 7 57843985 57927889 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv5764 7 57849853 57884392 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2761 S 9 1 0 "" NA18555 nsv8098 7 57854312 57861442 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17397,nssv17172 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA19132 nsv818508 7 57872045 57890326 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416844,nssv1416845 M 112 2 0 "" NA19238,NA19240 nsv8099 7 57880548 57918541 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17511,nssv17202,nssv18390,nssv16231 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19221,NA19240 esv2563697 7 57882820 57886557 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187870 S 1 0 1 "" NA18507 esv24181 7 57885899 57918335 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20635 S 451 2 0 "" NA07045,NA19240 nsv821177 7 57885899 57918335 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420657 S 1 1 0 "" NA10851 esv998000 7 57932807 57932807 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574052 S 3 1 0 "" HuRef esv22362 7 57944220 58058160 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13519 S 451 2 0 "" NA07037,NA11894 nsv821066 7 57944220 58058160 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420659 S 1 1 0 "" NA10851 esv2640140 7 57947210 57952062 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366280 S 1 0 1 "" NA18507 esv2524748 7 57959146 57959572 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281276 S 1 1 0 "" NA18507 esv7929 7 58044809 58045220 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30370 S 1 0 1 "" SJK esv2544693 7 58046433 58049371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284853 S 1 0 1 "" NA18507 esv1268514 7 58046475 58047843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4155186 S 2 0 1 "" HuRef esv997723 7 61058461 61060243 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586686 S 3 0 1 "" HuRef nsv428166 7 61060552 61280543 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451001,nssv450998,nssv450995,nssv450999,nssv451002,nssv450994,nssv451010,nssv450996,nssv451007,nssv451004,nssv451009,nssv451011,nssv451006,nssv450993,nssv451005,nssv451000,nssv451003 M 62 17 0 "" HGDP00449,HGDP00450,HGDP00460,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00476,HGDP00478,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA19225,NA19257 nsv436562 7 61067290 61399339 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466353 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv7263n71 7 61074213 61213367 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888095,nsv888080,nsv888094 M 6533 3 0 "" MS14324,MS17849,SP52274 nsv523744 7 61075979 61490330 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699560 S 2026 0 1 "" dgv7264n71 7 61078082 61213367 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888081,nsv888089 M 6533 0 2 "" IS35300,MS23780 dgv7265n71 7 61078136 61142597 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888083,nsv888082 M 6533 2 0 "" SP55465,SP56890 dgv7266n71 7 61081876 61166946 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888093,nsv888084 M 6533 2 0 "" SP52470,SP52475 dgv7267n71 7 61081876 61374317 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888092,nsv888085 M 6533 3 0 "" IS40297,IS40928,MS11004 dgv7268n71 7 61081876 61617364 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888101,nsv888086 M 6533 2 0 "" IS32322,IS38515 esv9091 7 61083362 61089214 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31532 S 1 0 1 "" SJK esv5201 7 61083577 61084980 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27642 S 1 0 0 Single Asian sample YH "" YH dgv2085e1 7 61087267 61280543 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14385,essv3186,essv6734,essv4745,essv679,essv17054,essv2801,essv24249,essv14870,essv8461,essv12472,essv22033,essv1021,essv18072,essv5540,essv22914,essv14647,essv19639,essv10577,essv9976,essv7400,essv12769,essv12244,essv7557,essv12537,essv6176,essv13696,essv16126,essv10622,essv2997,essv15419,essv7319,essv22649,essv18394,essv9589,essv11039,essv10141,essv8942,essv12307,essv11710,essv14519,essv10233,essv17460,essv10395,essv9899,essv18855,essv22430,essv14268,essv7084,essv16694,essv16361,essv20387,essv13477,essv8783,essv16838,essv4023,essv16034,essv6289,essv23489,essv11579,essv13078,essv21725,essv17659,essv13876,essv19281,essv17318,essv11450,essv13037,essv9147,essv114,essv14079,essv21375,essv21233,essv15310,essv5711,essv9236,essv9805,essv14999,essv9431,essv10876,essv7218,essv17157,essv18327,essv22002,essv17708,essv15698,essv16739,essv8369,essv21535,essv18292,essv12411,essv11271,essv18739,essv13642,essv14780,essv1432,essv14136,essv22386,essv5806,essv13559,essv22816,essv6022,essv8286,essv2091,essv16197,essv12632,essv1210,essv460,essv13133,essv2892,essv788,essv6991,essv11951,essv1153,essv13789,essv10762,essv10320,essv6713,essv388,essv11848 M 271 0 0 "" NA07034,NA10830,NA10838,NA10846,NA10856,NA10861,NA11830,NA11881,NA11994,NA11995,NA12004,NA12043,NA12145,NA12154,NA12155,NA12248,NA12249,NA12740,NA12751,NA12752,NA12760,NA12872,NA12873,NA12874,NA12875,NA18500,NA18501,NA18502,NA18506,NA18507,NA18508,NA18516,NA18522,NA18523,NA18529,NA18532,NA18537,NA18545,NA18547,NA18562,NA18566,NA18570,NA18571,NA18593,NA18608,NA18612,NA18620,NA18623,NA18635,NA18636,NA18852,NA18854,NA18855,NA18856,NA18857,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18914,NA18944,NA18949,NA18951,NA18952,NA18953,NA18956,NA18964,NA18968,NA18971,NA18974,NA18975,NA18981,NA18987,NA19005,NA19093,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19119,NA19127,NA19128,NA19130,NA19138,NA19140,NA19141,NA19142,NA19143,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19204,NA19205,NA19207,NA19208,NA19221,NA19222,NA19238,NA19240 dgv2086e1 7 61087267 62749700 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13220,essv12788,esv691,essv24973,essv24350,essv18945 M 271 0 0 LOC100287704,LOC100287834,LOC643955,MIR4283-1,MIR4283-2 NA10839,NA12005,NA19120 dgv7269n71 7 61088488 61261477 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888091,nsv888087 M 6533 0 2 "" IS35637,MS13025 dgv7270n71 7 61088488 61290188 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888090,nsv888088,nsv888104,nsv888099,nsv888098,nsv888097,nsv888096,nsv888102,nsv888103 M 6533 20 0 "" IS30506,IS30667,IS33192,IS34185,IS35717,IS41043,IS41664,MS11032,MS11497,MS11694,MS14737,MS16851,MS18101,MS23191,MS25814,SP52455,SP52694,SP56710,SP58090,SP58241 esv5257 7 61089118 61139780 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27698 S 1 0 0 Single Asian sample YH "" YH nsv831012 7 61094178 61279220 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446150,nssv1446145,nssv1446148,nssv1446147,nssv1446146,nssv1446149,nssv1446161,nssv1446138,nssv1446157,nssv1446152,nssv1446155,nssv1446156,nssv1446154,nssv1446153,nssv1446160,nssv1446136,nssv1446137,nssv1446158,nssv1446159,nssv1446144,nssv1446139,nssv1446142,nssv1446143,nssv1446141 M 95 19 5 "" dgv117n16 7 61094890 61613398 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436897,nsv436894 M 2 1 0 "" NA18505 esv1004067 7 61095811 61248912 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586516 S 3 0 1 "" HuRef esv23616 7 61096091 61300677 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17573,esv11954,esv14022,esv20699 M 451 27 0 "" NA07037,NA07045,NA11931,NA11995,NA12004,NA12489,NA12749,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 dgv7271n71 7 61100583 61374317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888100,nsv888111 M 6533 0 2 "" IS38644,MS18752 esv1633473 7 61101823 61101823 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351413 S 2 1 0 "" HuRef nsv436892 7 61103799 61103880 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466356 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 dgv29n14 7 61107582 61225802 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433385,nsv433386 M 9 2 0 "" NA12156,NA18517 nsv433389 7 61107582 61311414 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463270 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv888105 7 61129656 61249162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518771 S 6533 1 0 "" SP58007 nsv888106 7 61142597 61213367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550734 S 6533 0 1 "" MS18568 dgv7272n71 7 61166946 61213367 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888107,nsv888109,nsv888108 M 6533 0 3 "" MS15458,MS21118,SP54663 nsv888110 7 61171130 61249162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541259 S 6533 0 1 "" MS15216 nsv888112 7 61186525 61249162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512537 S 6533 1 0 "" SP55551 dgv7273n71 7 61186525 61605811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888117,nsv888113,nsv888129,nsv888128 M 6533 5 0 "" IS30206,IS34005,IS38403,MS10123,MS11726 dgv7274n71 7 61196318 61374317 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888115,nsv888114 M 6533 2 0 "" MS13932,MS15973 dgv7275n71 7 61225802 61490330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888127,nsv888116 M 6533 0 2 "" IS38436,MS18947 nsv888118 7 61239879 61311414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581518 S 6533 0 1 "" IS35608 dgv7276n71 7 61239879 61398178 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888119,nsv888123,nsv888130,nsv888135 M 6533 9 0 "" IS30197,IS35007,SP53402,SP53473,SP55026,SP56766,SP56793,SP56959,SP58305 dgv7277n71 7 61239879 61441185 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888120,nsv888137 M 6533 0 2 "" SP54792,SP55747 dgv7278n71 7 61239879 61455371 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888131,nsv888121,nsv888126,nsv888125,nsv888132 M 6533 7 0 "" IS37156,MS10950,MS20771,MS21390,MS23628,MS24350,SP53791 nsv831013 7 61246808 61275699 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446175,nssv1446182,nssv1446174,nssv1446181,nssv1446177,nssv1446176,nssv1446180,nssv1446178,nssv1446170,nssv1446172,nssv1446171,nssv1446169,nssv1446166,nssv1446179,nssv1446165,nssv1446164,nssv1446163,nssv1446168,nssv1446167 M 95 19 0 "" nsv888122 7 61249162 61374317 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588856,nssv1582703,nssv1544044,nssv1573265,nssv1552663,nssv1591313,nssv1529109,nssv1552293,nssv1572183,nssv1527059,nssv1597992,nssv1545804,nssv1562207,nssv1542000,nssv1554864,nssv1521827,nssv1553260,nssv1528817,nssv1583250,nssv1591893,nssv1552386,nssv1563814,nssv1582064,nssv1577196 M 6533 22 2 "" IS30081,IS32888,IS33256,IS34386,IS35783,IS36103,IS36364,IS38262,IS38671,IS39088,IS40872,MS15596,MS16213,MS16949,MS19324,MS19372,MS19576,MS19858,MS21038,MS25436,SP52594,SP58097,SP81363,SP81453 dgv7279n71 7 61249162 61398178 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888124,nsv888133 M 6533 0 2 "" IS30066,SP55557 dgv7280n71 7 61261477 61484889 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888134,nsv888138 M 6533 2 0 "" MS14919,MS24719 dgv225e55 7 61269841 62543564 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34858,esv34425,esv34968,esv35096 M 771 4 0 LOC100287704,LOC100287834,LOC643955 NA10839,NA12005,NA19116,NA19120 esv2752164 7 61269841 62938685 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981186,essv6985509,essv6981187,essv6981185 M 771 1 0 LOC100287704,LOC100287834,LOC643955,MIR4283-1,MIR4283-2 BEC_361 esv6683 7 61270302 61271124 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29124 S 1 0 1 "" SJK esv4670 7 61272086 61275137 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27111 S 1 0 0 Single Asian sample YH "" YH nsv888136 7 61275162 61441185 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542777,nssv1538320 M 6533 1 1 "" MS13641,MS15873 esv2557609 7 61284613 61288045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237948 S 1 0 1 "" NA18507 nsv436900 7 61293069 61297704 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466357 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv888139 7 61298520 62075016 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500693 S 6533 1 0 "" SP50159 esv9283 7 61299200 61301448 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31724 S 1 0 1 "" SJK nsv888140 7 61311414 61504406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587706 S 6533 0 1 "" IS38101 dgv7281n71 7 61311414 61681059 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888142,nsv888143,nsv888141 M 6533 3 0 "" IS31656,IS33797,IS38293 nsv888144 7 61313039 61430534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508430 S 6533 0 1 "" SP54579 dgv7282n71 7 61375581 61455371 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888145,nsv888151,nsv888146 M 6533 0 3 "" SP54587,SP55650,SP57469 dgv7283n71 7 61375581 61486266 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888147,nsv888152,nsv888153 M 6533 4 0 "" MS14323,SP50637,SP52027,SP54345 nsv888148 7 61375581 61490330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533075 S 6533 0 1 "" MS11002 dgv7284n71 7 61375581 61605811 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888150,nsv888149,nsv888154 M 6533 3 0 "" IS38047,SP50783,SP51244 esv26282 7 61376721 61397086 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13766 S 451 0 8 "" NA11995,NA12006,NA12776,NA12828,NA18523,NA18861,NA18909,NA18916 nsv820571 7 61376721 61397086 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420660 S 1 1 0 "" NA10851 dgv111e19 7 61377356 61421536 CNV Loss Ahn et al 2009 19470904 Sequencing esv7814,esv5894 M 1 0 1 "" SJK esv1002341 7 61377446 61397086 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586222 S 3 0 1 "" HuRef esv4526 7 61380095 61426486 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26967 S 1 0 0 Single Asian sample YH "" YH esv5559 7 61381035 61384187 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28000 S 1 0 1 "" SJK esv4903 7 61381891 61392567 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27344 S 1 0 0 Single Asian sample YH "" YH dgv112e19 7 61392868 61427686 CNV Loss Ahn et al 2009 19470904 Sequencing esv8569,esv6244 M 1 0 1 "" SJK nsv888155 7 61398330 61530432 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554104 S 6533 0 1 "" MS20616 dgv7285n71 7 61398330 61840466 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888165,nsv888168,nsv888172,nsv888156 M 6533 4 0 "" IS32888,IS33162,IS33601,IS41410 nsv437549 7 61398544 61553059 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467430 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 esv5482 7 61411526 61474321 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27923 S 1 0 0 "" SJK nsv821396 7 61416213 61442552 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420661 S 1 1 0 "" NA10851 esv25336 7 61416467 61442407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15729 S 451 0 16 "" NA06985,NA11931,NA11995,NA12006,NA12044,NA12156,NA12776,NA12828,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19240,NA19257 dgv7286n71 7 61416760 61550765 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888158,nsv888157 M 6533 2 0 "" IS31045,MS10549 esv1008858 7 61417631 61439339 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586247 S 3 0 1 "" HuRef esv7923 7 61425313 61425892 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30364 S 1 0 1 "" SJK esv2622593 7 61425326 61428373 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364303 S 1 0 1 "" NA18507 esv271375 7 61426546 61426631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515913 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv888159 7 61441185 61605811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557074 S 6533 0 1 "" MS22353 dgv7287n71 7 61441185 61622204 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888170,nsv888161,nsv888162,nsv888167,nsv888160,nsv888166 M 6533 11 0 "" IS31155,IS37874,IS39272,MS10580,MS11021,MS11306,MS12202,MS13426,MS21771,SP50921,SP53402 dgv2087e1 7 61453215 62692949 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8228,essv12041 M 271 0 0 LOC100287704,LOC100287834,LOC643955 NA19116 nsv888163 7 61455371 61649656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586848 S 6533 1 0 "" IS37985 dgv7288n71 7 61455371 62099233 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888164,nsv888169,nsv888173 M 6533 3 0 "" IS34407,IS38176,IS40799 nsv441959 7 61477137 61488622 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv433390 7 61481030 61550765 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463271 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 esv22220 7 61481191 61554556 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15531,esv17777 M 451 5 0 "" NA18505,NA18511,NA18523,NA19108,NA19190 esv7778 7 61484924 61500131 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30219 S 1 0 1 "" SJK nsv511964 7 61486383 61495456 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624506 S 1 0 1 "" 1 dgv7289n71 7 61490330 61752449 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888178,nsv888171,nsv888177 M 6533 3 0 "" IS39233,MS10228,MS13401 nsv436542 7 61492646 61499643 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466358 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv7290n71 7 61511614 61649656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888174,nsv888175 M 6533 2 0 "" SP51436,SP56890 nsv888176 7 61515558 61764829 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509463 S 6533 0 1 "" SP54792 dgv28e196 7 61525252 62337812 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422384,esv2422387 M 181 2 0 "" ND01692,ND04991 nsv436800 7 61529857 61530165 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466359 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436893 7 61529931 61530131 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466360 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv24740 7 61604707 62270454 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16506,esv11482,esv20806,esv13383,esv15725,esv18805,esv10782,esv14385 M 451 7 12 "" NA06985,NA07037,NA07045,NA12004,NA12239,NA12414,NA12749,NA18505,NA18508,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225 esv2492217 7 61604992 61605330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175810 S 1 0 1 "" NA18507 dgv113e19 7 61605552 61607705 CNV Loss Ahn et al 2009 19470904 Sequencing esv6679,esv7195,esv9180,esv7307 M 1 0 1 "" SJK esv4071 7 61605908 61610887 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26512 S 1 0 0 Single Asian sample YH "" YH esv7313 7 61605912 61606276 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29754 S 1 0 1 "" SJK esv2566559 7 61606288 61621852 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174234 S 1 0 0 "" NA18507 dgv114e19 7 61606475 61606850 CNV Loss Ahn et al 2009 19470904 Sequencing esv6341,esv6889,esv5637,esv8454 M 1 0 1 "" SJK dgv115e19 7 61606495 61613551 CNV Loss Ahn et al 2009 19470904 Sequencing esv8307,esv6690 M 1 0 1 "" SJK dgv118n16 7 61606510 61606762 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436799,nsv435943 M 2 2 0 "" NA15510,NA18505 dgv119n16 7 61606516 61608963 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436003,nsv436762 M 2 2 0 "" NA15510,NA18505 esv2885 7 61606745 61606802 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25326 S 1 0 0 Single Asian sample YH "" YH dgv116e19 7 61606786 61606864 CNV Gain Ahn et al 2009 19470904 Sequencing esv7650,esv8828 M 1 1 0 "" SJK esv2479184 7 61606811 61606875 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392697 S 1 1 0 "" NA18507 esv4926 7 61606817 61607392 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27367 S 1 0 0 Single Asian sample YH "" YH esv8442 7 61606857 61608048 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30883 S 1 0 1 "" SJK nsv888180 7 61606902 61746295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501123 S 6533 0 1 "" SP51132 dgv7291n71 7 61606902 61752449 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888179,nsv888188 M 6533 2 0 "" MS16038,MS24719 esv4156 7 61606907 61608468 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26597 S 1 0 0 Single Asian sample YH "" YH esv7000 7 61607040 61607303 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29441 S 1 0 1 "" SJK nsv469730 7 61607151 61793403 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649751 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv436899 7 61607195 61623084 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466367 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv7041 7 61607826 61608145 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29482 S 1 0 1 "" SJK esv9031 7 61607856 61611593 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31472 S 1 0 1 "" SJK esv6340 7 61607875 61609067 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28781 S 1 0 1 "" SJK nsv436896 7 61608210 61617090 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466368 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv6151 7 61609457 61610479 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28592 S 1 0 1 "" SJK nsv888181 7 61610694 61752449 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555591,nssv1545872,nssv1527034,nssv1545910,nssv1547397,nssv1558263,nssv1564664,nssv1560520,nssv1542594,nssv1562093 M 6533 8 2 "" IS30278,MS15803,MS17014,MS17036,MS17363,MS21458,MS23184,MS24517,MS25369,SP58090 nsv888182 7 61610694 61955671 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512570 S 6533 0 1 "" SP55557 dgv7292n71 7 61610694 62100912 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888201,nsv888183,nsv888194,nsv888207,nsv888200 M 6533 6 0 "" IS34970,IS36315,MS11726,MS19922,SP50691,SP50743 dgv7293n71 7 61610694 62396891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888184,nsv888204,nsv888209,nsv888186,nsv888198,nsv888206,nsv888205,nsv888203,nsv888210,nsv888185 M 6533 23 0 LOC643955 IS30201,IS31617,IS33553,IS33675,IS33788,IS35205,IS36463,IS37226,IS37353,IS38101,IS38346,IS38611,IS39519,IS39886,IS40237,IS40762,IS41043,IS41576,IS41848,MS13011,MS22209,MS22465,MS24476 esv2539814 7 61611815 61612155 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221128 S 1 0 1 "" NA18507 nsv831014 7 61613655 61797715 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446188,nssv1446183,nssv1446186,nssv1446187 M 95 0 4 "" nsv888187 7 61614179 62519210 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516655 S 6533 1 0 LOC100287704,LOC100287834,LOC643955 SP56886 dgv7294n71 7 61617364 61813750 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888196,nsv888195,nsv888189 M 6533 0 3 "" IS38078,IS38441,MS17964 esv1488277 7 61636616 61637300 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104661 S 2 0 1 "" HuRef dgv7295n71 7 61639074 61813750 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888197,nsv888190 M 6533 2 0 "" MS15704,MS19698 dgv7296n71 7 61639074 61878476 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888191,nsv888192 M 6533 2 0 "" IS32918,IS40297 nsv888193 7 61639074 61948628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570902 S 6533 1 0 "" IS32322 nsv470244 7 61649655 62475967 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545687,nssv545665,nssv545654,nssv545699,nssv545676 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100287704,LOC100287834,LOC643955 HGDP00647,HGDP00653,HGDP00681,HGDP01219,HGDP01258 nsv516283 7 61649656 62342453 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667780,nssv656178,nssv662440,nssv667330,nssv656484,nssv704130,nssv700468,nssv678832,nssv692105,nssv672879,nssv683935,nssv675977,nssv657031,nssv680590,nssv704745,nssv669141,nssv672500,nssv702213,nssv655292,nssv701039,nssv657880,nssv668236,nssv705472,nssv692013,nssv686997,nssv700300,nssv681562,nssv677631,nssv660660 M 2026 9 20 "" nsv818509 7 61649656 62372905 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416645,nssv1416646 M 112 2 0 "" NA19116,NA19120 nsv512911 7 61665159 61665475 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625558 S 1 1 0 "" 1 esv1647681 7 61665284 61665284 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699440 S 2 1 0 "" HuRef nsv8100 7 61668128 62332848 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16268,nssv15959,nssv15528,nssv15197,nssv15586,nssv14179,nssv15187,nssv17232,nssv14852,nssv17262,nssv18014,nssv13961,nssv16149,nssv15574 M 31 1 12 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839,NA11830,NA12155,NA12740,NA12872,NA18502,NA18517,NA18552,NA18563,NA18564,NA18572,NA19173 esv1622140 7 61672273 61672442 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854102 S 2 0 1 "" HuRef nsv888199 7 61673005 61746295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515813 S 6533 0 1 "" SP56289 dgv7297n71 7 61673005 62342453 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888202,nsv888208,nsv888216,nsv888211 M 6533 5 0 "" IS31334,IS33514,IS35484,MS10769,SP81251 esv1153769 7 61722108 61722624 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231202 S 2 0 1 "" HuRef dgv7298n71 7 61772528 61839471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888212,nsv888213 M 6533 0 2 "" SP54661,SP55597 dgv130n17 7 61782158 61804706 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437018,nsv437017 M 60 0 2 "" NA06991,NA12802 nsv888214 7 61782158 61900768 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502733 S 6533 1 0 "" SP51368 nsv437985 7 61789417 61797361 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468907,nssv468903,nssv468905,nssv468902,nssv468906,nssv468904 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA06985,NA06991,NA07055,NA10859,NA12802,NA12815 essv17998 7 61794866 62543564 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100287704,LOC100287834,LOC643955 NA12005 nsv888215 7 61796606 62099233 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566204 S 6533 0 1 "" IS30609 nsv470255 7 61840465 62155063 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545710 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00706 nsv469729 7 61848549 62059406 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649750 M 265 2 0 Samples from several populations that are part of the HapMap project. "" nsv888217 7 61860429 61934834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513111 S 6533 0 1 "" SP55684 nsv888218 7 61878476 62165178 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579483 S 6533 1 0 "" IS35111 esv2609430 7 61950306 61952341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389357 S 1 0 1 "" NA18507 esv2328622 7 61950473 61951553 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4926647 S 1 0 1 "" NA18507 nsv818510 7 61990710 62075724 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416943 S 112 0 1 "" NA19138 nsv888219 7 61990710 62581558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595997 S 6533 0 1 LOC100287704,LOC100287834,LOC643955 IS40382 nsv511375 7 62002716 62030853 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625980 S 1 0 1 "" 1 nsv511965 7 62003239 62007678 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624507 S 1 0 1 "" 1 esv2179631 7 62003342 62007281 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506630 S 1 0 1 "" NA18507 esv5577 7 62003507 62019534 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28018 S 1 0 1 "" SJK dgv817n27 7 62042141 62372905 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464508,nsv464497,nsv464499,nsv464504,nsv464489,nsv464509,nsv464500,nsv464502,nsv464512,nsv464511,nsv464501,nsv464503,nsv464510,nsv464507 M 1557 14 0 "" 1780846005_A,1780854009_A,1780862404_A,1780862480_A,1782681024_A,1798860192_A,HGDP00208,HGDP00338,HGDP00647,HGDP00653,HGDP00747,HGDP01258,NINDS_46,NINDS_98 nsv464513 7 62050982 63152250 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540420 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100287704,LOC100287834,LOC100506050,LOC643955,MIR4283-1,MIR4283-2,ZNF727 HGDP00551 nsv471640 7 62051625 62261328 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551189 S 48 1 0 "" NA15733 nsv888220 7 62075724 62483084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544878 S 6533 1 0 LOC100287704,LOC100287834,LOC643955 MS16559 dgv7299n71 7 62128107 62396891 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888221,nsv888222 M 6533 2 0 LOC643955 IS34970,IS36315 esv1001601 7 62129405 62132723 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563595 S 3 1 0 "" HuRef esv1111699 7 62179187 62179277 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025975 S 2 0 1 "" HuRef nsv888223 7 62203847 62252757 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580994 S 6533 1 0 "" IS35484 nsv888224 7 62203847 62266754 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527567 S 6533 0 1 "" SP58537 nsv888225 7 62203847 62298382 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574155 S 6533 1 0 "" IS33514 nsv888226 7 62203847 62396891 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520197 S 6533 1 0 LOC643955 SP50743 nsv888227 7 62238968 62366659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579484 S 6533 1 0 "" IS35111 nsv818512 7 62252757 62264608 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418161 S 112 0 1 "" NA19143 essv19330 7 62282881 62343621 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv888228 7 62299906 62411464 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541835 S 6533 1 0 LOC643955 MS15509 essv17309 7 62325606 62746810 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100287704,LOC100287834,LOC643955,MIR4283-1,MIR4283-2 NA18856 nsv442051 7 62326783 62343851 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421875 7 62326783 62416532 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5016074,essv5086793,essv5073476,essv5101312,essv5090099,essv5092063,essv5116491,essv5122135,essv5144716,essv5014795,essv5078902,essv5068899,essv5050667,essv5077845,essv5009785,essv5037980,essv5009352,essv5124294,essv5090693,essv5024856,essv5094370,essv5088286,essv5075732,essv5065333,essv5091017,essv5121420,essv5149350,essv5152119,essv5104686,essv5105800,essv5053412,essv5026864,essv5128526,essv5033606,essv5130817,essv5043083,essv5007321,essv5112168,essv5152109,essv5148073,essv5057096,essv5044550,essv5086483,essv5014256,essv5047727,essv5137410,essv5024820,essv5030165,essv5134855,essv5159397,essv5045368,essv5051664,essv5058369,essv5142593,essv5020007,essv5044657,essv5097992,essv5035438,essv5129668,essv5103956,essv5020317,essv5088335,essv5072883,essv5085105 M 1184 0 64 LOC643955 NA17962,NA17966,NA17967,NA17974,NA17981,NA17993,NA17995,NA18105,NA18114,NA18117,NA18135,NA18136,NA18140,NA18141,NA18143,NA18151,NA18153,NA18155,NA18157,NA18162,NA18536,NA18543,NA18544,NA18545,NA18546,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18572,NA18595,NA18597,NA18608,NA18614,NA18615,NA18624,NA18626,NA18631,NA18635,NA18637,NA18640,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18749,NA18757,NA18947,NA18956,NA18963,NA18964,NA18965,NA18966,NA18978,NA18979,NA19070,NA19072,NA19080,NA19086 dgv7300n71 7 62342453 62446804 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888229,nsv888232,nsv888231 M 6533 0 67 LOC643955 IS36963,IS40299,MS10115,MS10591,MS10592,MS10686,MS10840,MS10875,MS11858,MS12932,MS13157,MS13160,MS13384,MS13605,MS14512,MS15576,MS16362,MS16728,MS16846,MS16902,MS17047,MS17696,MS17949,MS18053,MS18247,MS18432,MS18462,MS18598,MS18672,MS18933,MS19683,MS20288,MS20702,MS20925,MS21937,MS22952,MS23490,MS24390,MS24393,MS25589,MS25814,SP50528,SP50823,SP51079,SP51235,SP51290,SP52329,SP52448,SP53426,SP54049,SP54119,SP54471,SP54673,SP55382,SP55569,SP55748,SP55791,SP56086,SP56231,SP56381,SP56542,SP56913,SP57564,SP57831,SP81353,SP81408,SP81464 nsv888230 7 62342453 62932342 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592642 S 6533 1 0 LOC100287704,LOC100287834,LOC643955,MIR4283-1,MIR4283-2 IS39243 nsv8101 7 62346922 62386602 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15558,nssv14209,nssv15227 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18563,NA18564,NA18572 nsv528613 7 62372905 62572772 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705239 S 2026 1 0 LOC100287704,LOC100287834,LOC643955 dgv7301n71 7 62398771 62592498 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888233,nsv888235 M 6533 2 0 LOC100287704,LOC100287834,LOC643955 IS33403,SP81020 nsv8104 7 62399309 62443304 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15616,nssv14239,nssv15588,nssv18420,nssv15257 M 31 1 4 Samples from several populations that are part of the HapMap project. LOC643955 NA18552,NA18563,NA18564,NA18572,NA19221 nsv888234 7 62416532 62485287 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556827 S 6533 1 0 LOC100287704,LOC100287834 MS22209 nsv8105 7 62447021 62448538 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16179,nssv15285,nssv15573,nssv15786,nssv17457,nssv17383,nssv18044,nssv17873,nssv15618,nssv14882 M 31 9 1 Samples from several populations that are part of the HapMap project. LOC100287704,LOC100287834 NA07029,NA07048,NA10863,NA12740,NA18504,NA18517,NA18537,NA18564,NA18972,NA19132 nsv8106 7 62451782 62452288 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18134 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv818513 7 62465166 62475967 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416357 S 112 1 0 "" NA18856 nsv8107 7 62465780 62467771 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17443 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv8108 7 62466183 62473170 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15005 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 esv33023 7 62467772 62473070 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98377 S 51 0 1 "" 22352 nsv8109 7 62491450 62491956 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18164 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18517 nsv8110 7 62495200 62496714 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15648,nssv15816,nssv16209,nssv14912,nssv15315,nssv17903,nssv17487,nssv15603,nssv18194,nssv17473 M 31 9 1 Samples from several populations that are part of the HapMap project. LOC100287834 NA07029,NA07048,NA10863,NA12740,NA18504,NA18517,NA18537,NA18564,NA18972,NA19132 dgv7302n71 7 62499511 62581558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888237,nsv888236,nsv888240,nsv888239,nsv888238,nsv888241,nsv888242 M 6533 0 43 "" MS10591,MS10840,MS10875,MS11858,MS13028,MS13502,MS13605,MS13813,MS16728,MS16846,MS18247,MS18432,MS18503,MS18976,MS20702,MS21457,MS22952,MS23626,MS24390,MS24508,MS25589,SP50148,SP50528,SP50725,SP50823,SP51179,SP51290,SP53426,SP54049,SP54471,SP54673,SP54937,SP55569,SP55699,SP55748,SP55791,SP56086,SP56381,SP56542,SP56913,SP57013,SP58408,SP81353 dgv7303n71 7 62499511 62617382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888244,nsv888243 M 6533 0 3 "" MS13744,MS21937,SP51450 nsv8111 7 62500430 62545672 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15678,nssv18480,nssv15646,nssv14269,nssv15287 M 31 1 4 Samples from several populations that are part of the HapMap project. "" NA18552,NA18563,NA18564,NA18572,NA19221 dgv7304n71 7 62529511 62658235 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888245,nsv888246,nsv888247,nsv888248 M 6533 4 0 "" IS39363,MS14828,MS18192,SP53572 dgv7305n71 7 62548382 62768495 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888250,nsv888249,nsv888252 M 6533 3 0 MIR4283-1,MIR4283-2 IS38101,IS38650,MS13498 nsv888251 7 62576791 62715547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567895 S 6533 1 0 "" IS31169 nsv8112 7 62588768 62593149 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15708 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv8113 7 62598758 62604588 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17292 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv8115 7 62616607 62624994 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18224,nssv17322,nssv14942,nssv16298,nssv13991,nssv15217 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA11830,NA12155,NA12872,NA18502,NA18517 esv28535 7 62617287 62623191 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20680 S 451 0 2 "" NA11931,NA18517 nsv820900 7 62617287 62623191 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420662 S 1 1 0 "" NA10851 esv32550 7 62622908 62887314 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98748,essv95167,essv97985,essv96341,essv94241 M 51 1 4 MIR4283-1,MIR4283-2 21606,21721,22259,22371,22394 nsv888253 7 62623008 62726846 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591558 S 6533 1 0 MIR4283-1,MIR4283-2 IS38987 nsv888254 7 62710125 62887215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533859 S 6533 1 0 MIR4283-1,MIR4283-2 MS11307 esv2502102 7 62741279 62752708 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169574 S 1 1 0 "" NA18507 nsv8116 7 62745601 62747171 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14299 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv5766 7 62748282 62781523 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3537 S 9 1 0 "" NA12878 nsv366726 7 62750188 62750188 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385304 M 24 "" nsv366298 7 62785788 62787052 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384876 M 24 "" nsv888255 7 62812603 63627535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595998 S 6533 0 1 LOC100506050,LOC649395,ZNF679,ZNF680,ZNF727,ZNF735,ZNF736 IS40382 nsv888256 7 62838926 62980908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588398 S 6533 1 0 "" IS38187 nsv5767 7 62841249 62887987 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2659,nssv6137 M 9 0 2 "" NA12156,NA18555 nsv5768 7 62842274 62883804 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3538,nssv10552,nssv9904,nssv4986,nssv641,nssv2660 M 9 6 0 "" NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv8117 7 62843399 62866547 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15989,nssv17352,nssv15317,nssv18510,nssv15598,nssv17541,nssv15738,nssv14329,nssv16328 M 31 9 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18563,NA18564,NA18572,NA18860,NA19144,NA19173,NA19221 esv22021 7 62844017 62870536 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20638,esv10257 M 451 17 2 "" NA07037,NA11993,NA11995,NA12004,NA12239,NA12414,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA19099,NA19108,NA19129,NA19257 esv998561 7 62847452 62863094 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586526 S 3 0 1 "" HuRef nsv366695 7 62848287 62849965 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385273 M 24 "" nsv365935 7 62850246 62851828 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384513 M 24 "" nsv8118 7 62861048 62878336 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17503 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv888257 7 62863714 63101777 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560419 S 6533 1 0 "" MS24476 nsv8119 7 62878336 62893898 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15247,nssv15628 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA11830,NA19144 esv2648058 7 62916253 62932260 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226629 S 1 0 1 "" NA18507 nsv888258 7 62932342 63174608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542446 S 6533 1 0 LOC100506050,ZNF727 MS15782 esv23357 7 62957213 62966216 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12766 S 451 0 3 "" NA11931,NA12156,NA19108 nsv524380 7 62984321 62998513 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700295 S 2026 0 1 "" nsv888259 7 63000436 63646628 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527831 S 6533 1 0 LOC100506050,LOC649395,ZNF679,ZNF680,ZNF727,ZNF735,ZNF736 SP81020 nsv888260 7 63026985 63203388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591719 S 6533 0 1 LOC100506050,ZNF727 IS39011 nsv888261 7 63050345 63101777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541165 S 6533 0 1 "" MS15199 nsv888262 7 63059012 63133006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575869 S 6533 0 1 LOC100506050 IS33832 esv274967 7 63075430 63082501 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585482 S 1250 0 1 "" nsv888263 7 63101777 63203388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588692 S 6533 0 1 LOC100506050,ZNF727 IS38235 nsv888264 7 63163680 63428704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513521 S 6533 1 0 ZNF679,ZNF727,ZNF735,ZNF736 SP55791 nsv888265 7 63194631 63316797 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518477 S 6533 1 0 ZNF735 SP57640 nsv818514 7 63211029 63222219 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417638,nssv1417627 M 112 1 1 "" NA12234,NA12264 nsv522412 7 63237060 63527144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695195 S 2026 0 1 ZNF679,ZNF735,ZNF736 dgv7306n71 7 63332517 63428704 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888266,nsv888267 M 6533 2 0 ZNF679,ZNF736 IS34207,SP57640 esv2422405 7 63347174 64269776 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161560 S 181 1 0 CCT6P3,ERV3-1,INTS4L1,LOC641746,LOC649395,SEPHS1P,ZNF107,ZNF117,ZNF138,ZNF273,ZNF679,ZNF680,ZNF736 ND02214 nsv888268 7 63348722 63398516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600433 S 6533 1 0 ZNF679 IS41883 nsv464515 7 63381785 63420821 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540421 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZNF736 HGDP00945 nsv888269 7 63395917 63503438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522610 S 6533 1 0 ZNF736 SP53280 nsv888270 7 63440451 63503438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506636 S 6533 1 0 ZNF736 SP54383 nsv518721 7 63444254 63451323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694266 S 2026 0 1 ZNF736 dgv1108n67 7 63451498 63452294 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824125,nsv824126 M 31 0 2 "" AK4,NA18972 esv7679 7 63455598 63455699 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30120 S 1 1 0 "" SJK esv1007162 7 63455659 63455659 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585571 S 3 1 0 "" HuRef esv1445201 7 63455660 63455660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696394 S 2 1 0 "" HuRef esv1001126 7 63456871 63481744 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586600 S 3 1 0 "" HuRef esv23413 7 63465843 63483381 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11349,esv16786 M 451 0 22 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12489,NA12776,NA12878,NA15510,NA18505,NA18511,NA18523,NA19099,NA19108,NA19129,NA19147,NA19225 nsv464516 7 63470358 63518673 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540422 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01193 nsv5769 7 63487864 63521538 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8382 S 9 1 0 "" NA12156 esv29372 7 63497921 63499507 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9863 S 451 0 1 "" NA19108 esv269758 7 63517593 63517936 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518840,essv2515171,essv2516055,essv2514318 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12812,NA12873,NA12874 nsv464518 7 63518673 64144339 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540424 S 1557 1 0 CCT6P3,ERV3-1,LOC641746,LOC649395,SEPHS1P,ZNF107,ZNF117,ZNF138,ZNF273,ZNF680 NINDS_207 dgv1109n67 7 63573120 63574076 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824128,nsv824127 M 31 0 5 "" AK8,NA18526,NA18951,NA18973,NA18999 esv1398644 7 63590450 63590450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3828729 S 2 1 0 "" HuRef dgv7307n71 7 63598647 63968558 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888271,nsv888274,nsv888273 M 6533 3 0 LOC641746,SEPHS1P,ZNF107,ZNF138,ZNF680 IS32808,MS24032,MS25447 nsv888272 7 63610651 63642311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513337 S 6533 0 1 ZNF680 SP55747 dgv7308n71 7 63627535 64148999 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888276,nsv888275 M 6533 2 0 CCT6P3,ERV3-1,LOC641746,SEPHS1P,ZNF107,ZNF117,ZNF138,ZNF273,ZNF680 MS24792,MS26100 nsv888277 7 63661016 63692239 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518908 S 6533 1 0 LOC641746 SP58557 nsv888278 7 63685908 63776898 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577037 S 6533 1 0 ZNF107 IS34340 esv23182 7 63696037 63800264 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16290 S 451 1 0 ZNF107 NA12156 nsv888279 7 63731720 63968558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540296 S 6533 0 1 SEPHS1P,ZNF107,ZNF138 MS14786 nsv888280 7 63802461 63859252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518145 S 6533 0 1 ZNF107 SP57469 nsv888281 7 63887844 63933319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502139 S 6533 0 1 ZNF138 SP50725 esv33896 7 63905420 63905611 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97983 S 51 1 0 ZNF138 22259 nsv508457 7 63923957 64028547 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618812 S 4 0 1 SEPHS1P,ZNF138,ZNF273 NA10860 esv2478591 7 63927065 63927624 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255344 S 1 1 0 ZNF138 NA18507 esv23796 7 63932790 63938776 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15396 S 451 0 3 "" NA12239,NA18505,NA19108 dgv7309n71 7 63937080 64148999 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888283,nsv888282 M 6533 2 0 CCT6P3,ERV3-1,SEPHS1P,ZNF117,ZNF273 MS24032,MS25447 nsv436564 7 63951371 63956346 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466369 S 2 0 1 Samples from several populations that are part of the HapMap project. SEPHS1P NA18505 esv2448996 7 63952200 63956726 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206214 S 1 0 1 "" NA18507 esv1005330 7 63952629 63955666 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564349 S 3 0 1 "" HuRef esv2509625 7 63952670 63956150 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322492 S 1 0 1 "" NA18507 esv2120081 7 63953056 63955694 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765517 S 1 0 1 "" NA18507 nsv511966 7 63953175 63956257 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624508 S 1 0 1 "" 1 esv5170 7 63953217 63955614 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27611 S 1 0 1 Single Asian sample YH "" YH esv1737190 7 63953259 63955510 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021514 S 2 0 1 "" HuRef esv6754 7 63953260 63955496 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29195 S 1 0 1 "" SJK esv26641 7 63966059 63982564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21367 S 451 0 1 "" NA19108 dgv226e55 7 63983257 64881031 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752166,esv2752165 M 771 0 2 CCT6P1,CCT6P3,ERV3-1,INTS4L1,INTS4L2,LOC441242,SNORA22,ZNF117,ZNF273,ZNF92 BEC_666,BEC_814 esv259701 7 63983802 63985454 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396054,essv2399873,essv2399842,essv2400606,essv2396853,essv2396344 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18561,NA18573,NA18576,NA18638,NA19138 esv25216 7 63984049 63985084 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10839 S 451 2 0 "" NA15510,NA18508 nsv510085 7 64008159 64014159 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621311,nssv624033,nssv618261 M 4 0 3 ZNF273 CHM,NA15510,NA18994 nsv888284 7 64043874 64199574 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560629 S 6533 1 0 CCT6P3,ERV3-1,ZNF117 MS24600 esv2647838 7 64050362 64051856 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368764 S 1 0 1 "" NA18507 esv2032864 7 64050641 64051642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578400 S 1 0 1 "" NA18507 nsv511967 7 64050659 64051805 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624509 S 1 0 1 "" 1 dgv1110n67 7 64050728 64051685 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824129,nsv824130 M 31 0 22 "" AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18997 nsv821404 7 64050728 64051685 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420663 S 1 0 1 "" NA10851 esv3826 7 64050781 64051550 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26267 S 1 0 1 Single Asian sample YH "" YH esv1003308 7 64065592 64066429 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564660 S 3 0 1 "" HuRef nsv517778 7 64099761 64964256 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680827,nssv672166,nssv681658,nssv673099,nssv685971,nssv665210,nssv658834,nssv693586,nssv659343,nssv675978,nssv692337,nssv685895,nssv678741,nssv671794,nssv693987,nssv653222 M 2026 4 12 CCT6P1,CCT6P3,ERV3-1,INTS4L1,INTS4L2,LOC441242,SNORA22,ZNF92 dgv227e55 7 64115821 64706066 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752167,esv34341 M 771 0 2 CCT6P3,INTS4L1,ZNF92 NA11840,SPC_13 esv27838 7 64135675 64137316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15917 S 451 0 1 CCT6P3 NA18907 nsv888285 7 64148999 64299510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592643 S 6533 1 0 CCT6P3,INTS4L1 IS39243 nsv888286 7 64167318 64437867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537950 S 6533 0 1 CCT6P3,INTS4L1 MS13428 esv24002 7 64171520 64274741 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18831,esv10484,esv10869,esv16908,esv11772,esv20927 M 451 19 32 CCT6P3,INTS4L1 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv888287 7 64175427 64628241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561742 S 6533 1 0 INTS4L1,ZNF92 MS25205 dgv2088e1 7 64188709 65011286 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24422,essv19416,essv25184,esv637,essv3098 M 271 0 0 CCT6P1,INTS4L1,INTS4L2,LOC441242,SNORA22,VKORC1L1,ZNF92 NA11840,NA12707,NA18969 nsv8120 7 64188961 64204419 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15176,nssv18540,nssv16261,nssv15235,nssv15658,nssv14662,nssv17517,nssv17382,nssv14359,nssv15347,nssv15035,nssv15798,nssv16019 M 31 13 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18502,NA18563,NA18564,NA18572,NA18942,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv228e55 7 64194829 64706085 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752168,esv2752169 M 771 2 0 INTS4L1,ZNF92 BEC_508,SPC_163 nsv888288 7 64199574 64291084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529473 S 6533 1 0 INTS4L1 SP81553 nsv820581 7 64204377 64274741 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420664 S 1 1 0 INTS4L1 NA10851 nsv8121 7 64219652 64239856 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15277,nssv15345,nssv15846,nssv14470,nssv15230,nssv16291,nssv15265,nssv15377,nssv15676,nssv17547,nssv17571,nssv14692,nssv14021,nssv16049,nssv15688,nssv14389,nssv18570,nssv16358,nssv16239,nssv15828,nssv15604,nssv17442,nssv14934,nssv17533 M 31 0 24 Samples from several populations that are part of the HapMap project. INTS4L1 NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18975,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv469565 7 64228046 64450830 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649677 M 265 0 0 Samples from several populations that are part of the HapMap project. INTS4L1 nsv515046 7 64231008 64233536 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627047 S 1414 0 0 "" nsv441970 7 64231500 64233133 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8122 7 64246927 64273971 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15718,nssv18254,nssv17563 M 31 0 3 Samples from several populations that are part of the HapMap project. INTS4L1 NA18504,NA18517,NA19144 nsv7400 7 64246951 64807343 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6138,nssv9905,nssv9715,nssv643 M 9 0 0 INTS4L1,INTS4L2,LOC441242,ZNF92 NA12156,NA18507,NA19240 esv33731 7 64247293 64813796 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98872,essv96763,essv97184,essv97152,essv97790,essv99390 M 51 1 5 INTS4L1,INTS4L2,LOC441242,ZNF92 21606,21659,22075,22278,22335 esv2422276 7 64269776 64455461 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161548 S 181 0 1 INTS4L1 ND01675 nsv435849 7 64281373 64788281 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466370 S 2 0 1 INTS4L1,INTS4L2,LOC441242,ZNF92 NA15510 dgv7310n71 7 64299510 64708968 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888296,nsv888303,nsv888289 M 6533 5 0 INTS4L1,ZNF92 IS38141,IS38216,IS40349,MS18117,MS21159 nsv888290 7 64307515 64329498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507233 S 6533 1 0 INTS4L1 SP54509 nsv888291 7 64307515 64357740 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501343 S 6533 1 0 INTS4L1 SP51014 nsv888292 7 64307515 64472637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567576 S 6533 1 0 INTS4L1 IS31118 dgv7311n71 7 64307515 64628241 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888294,nsv888293 M 6533 7 34 INTS4L1,ZNF92 IS30066,IS30406,IS31283,IS32777,IS33166,IS34011,IS36463,IS38128,IS38258,IS38337,IS38743,IS41317,IS41340,IS41867,IS41871,MS10301,MS10848,MS11547,MS12968,MS13211,MS14010,MS14502,MS15682,MS16023,MS17305,MS20239,MS20359,MS21192,MS22754,MS24563,SP50177,SP51218,SP52243,SP53332,SP54312,SP54957,SP55064,SP56889,SP58141,SP81543,SP81562 dgv7312n71 7 64307515 64628241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888295,nsv888301,nsv888300,nsv888308,nsv888312 M 6533 0 12 INTS4L1,ZNF92 IS30111,IS30837,IS38119,IS38315,IS41786,IS41903,IS41913,MS15060,MS16345,MS18999,SP54110,SP56861 dgv7313n71 7 64307515 64726242 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888298,nsv888297 M 6533 0 2 INTS4L1,ZNF92 MS15782,SP50046 nsv470266 7 64316995 64593615 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545721,nssv545732 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations INTS4L1,ZNF92 HGDP00382,HGDP00675 nsv470277 7 64316995 64593615 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545743,nssv545754 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations INTS4L1,ZNF92 HGDP00876,HGDP00878 dgv7314n71 7 64316996 64437867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888302,nsv888299 M 6533 0 2 INTS4L1 MS12822,SP55355 dgv818n27 7 64316996 64593616 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464532,nsv464523,nsv464527,nsv464533 M 1557 0 4 INTS4L1,ZNF92 1780854302_A,1787431195_A,HGDP00876,HGDP01399 dgv819n27 7 64316996 64593616 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464531,nsv464522,nsv464520,nsv464526,nsv464519,nsv464521,nsv464524,nsv464525 M 1557 8 0 INTS4L1,ZNF92 1780862229_A,1782681169_A,1798860306_A,HGDP00214,HGDP00382,HGDP00675,HGDP01172,HGDP01239 nsv5770 7 64327733 64373169 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10553,nssv4987 M 9 0 2 INTS4L1 NA18956,NA19129 dgv8n29 7 64332489 64530104 CNV Complex Locke et al 2006 16826518 BAC_aCGH nsv469616,nsv469574 M 265 0 0 ZNF92 nsv464529 7 64334979 64423753 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540435 S 1557 0 1 "" 1780854039_A nsv464530 7 64334979 64482155 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540436 S 1557 0 1 ZNF92 1780862126_A nsv831016 7 64342413 64485547 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446189 S 95 0 1 ZNF92 esv1006893 7 64352831 64362596 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563658 S 3 0 1 "" HuRef nsv511968 7 64352995 64365064 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624510 S 1 0 1 "" 1 dgv1111n67 7 64353407 64359952 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824138,nsv824134,nsv824132,nsv824136,nsv824137,nsv824135 M 31 0 6 "" AK6,NA18564,NA18582,NA18592,NA18968,NA18997 nsv824133 7 64353407 64364055 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434488,nssv1429897,nssv1436719,nssv1423486,nssv1422680,nssv1430660,nssv1425844,nssv1429154,nssv1438232,nssv1438912,nssv1428375,nssv1425059,nssv1441147,nssv1427561,nssv1437505,nssv1435175,nssv1432129,nssv1435936,nssv1439749 M 31 0 19 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,AK8,NA18537,NA18542,NA18552,NA18566,NA18570,NA18942,NA18949,NA18951,NA18969,NA18973,NA18999 nsv8123 7 64353428 64359594 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15634,nssv16269,nssv18600,nssv17601,nssv15307,nssv14722,nssv16388,nssv15858 M 31 8 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12155,NA12740,NA18564,NA18860,NA18942,NA19221 esv22032 7 64354006 64364055 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15171,esv18537,esv14386,esv20305 M 451 21 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12156,NA12239,NA12287,NA12414,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18909,NA18916,NA19114,NA19147,NA19225,NA19240 nsv820517 7 64356277 64360119 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420665 S 1 0 1 "" NA10851 dgv1112n67 7 64357226 64359952 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824140,nsv824139,nsv824141 M 31 0 5 "" AK18,NA18526,NA18547,NA18947,NA18972 dgv7315n71 7 64357740 64465422 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888304,nsv888306 M 6533 2 0 "" IS33261,IS39475 nsv8124 7 64359594 64363947 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16079 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv888305 7 64363747 64437867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531106 S 6533 0 1 "" MS10324 dgv7316n71 7 64363747 64574326 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888309,nsv888307,nsv888311 M 6533 0 3 ZNF92 IS30493,IS38220,SP52297 dgv229e55 7 64365513 64881031 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752173,esv2752170,esv2752171,esv2752172 M 771 0 4 CCT6P1,INTS4L2,LOC441242,SNORA22,ZNF92 BEC_287,BEC_304,BEC_654,BEC_740 nsv888310 7 64367407 64628241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502241 S 6533 1 0 ZNF92 SP51014 esv2527753 7 64385283 64386956 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260616 S 1 0 1 "" NA18507 dgv38e194 7 64385390 64386243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1954223,esv2058875 M 1 0 1 "" NA18507 nsv464534 7 64399829 64578888 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540440 S 1557 0 1 ZNF92 NINDS_29 dgv7317n71 7 64407931 64563264 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888315,nsv888313,nsv888314 M 6533 4 0 ZNF92 IS40024,IS41314,IS41889,MS17221 esv2253304 7 64417981 64418639 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810992 S 1 0 1 "" NA18507 esv274335 7 64432359 64432733 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580805 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267873 7 64432387 64432728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494264,essv2498425,essv2512136 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18858,NA19238 nsv888316 7 64437923 64628241 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531107,nssv1560596,nssv1536482 M 6533 1 2 ZNF92 MS10324,MS12822,MS24586 dgv7318n71 7 64437923 64649818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888317,nsv888318 M 6533 0 2 ZNF92 MS13428,SP55355 esv1156620 7 64456900 64456900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4125498 S 2 1 0 "" HuRef esv1007932 7 64511575 64515180 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565814 S 3 0 1 "" HuRef esv28412 7 64515314 64596817 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19400 S 451 8 0 "" NA06985,NA12156,NA15510,NA18909,NA19099,NA19129,NA19147,NA19225 nsv888319 7 64534129 64628241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560630 S 6533 1 0 "" MS24600 essv101796 7 64539579 64579322 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv509204 7 64553864 64599551 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619486,nssv623512,nssv620883 M 4 3 0 "" NA10860,NA15510,NA18994 nsv510961 7 64553864 64599551 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618657 S 4 0 0 "" CHM nsv5771 7 64573978 64595715 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv642,nssv10554,nssv3539 M 9 3 0 "" NA12878,NA18956,NA19240 nsv831017 7 64577483 64688373 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446190 S 95 1 0 "" esv1240466 7 64591485 64591485 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042408 S 2 1 0 "" HuRef nsv888320 7 64593616 64919757 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592644 S 6533 1 0 CCT6P1,INTS4L2,LOC441242,SNORA22 IS39243 nsv5772 7 64598036 64619022 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10555 S 9 1 0 "" NA18956 nsv499472 7 64611541 64612517 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586515 S 9 1 0 "" esv27521 7 64612545 64679379 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10316,esv10976 M 451 2 34 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19240,NA19257 nsv821245 7 64612545 64679379 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420666 S 1 1 0 "" NA10851 nsv469636 7 64617973 64708472 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649562 M 265 4 0 Samples from several populations that are part of the HapMap project. "" dgv2089e1 7 64617974 64708472 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17579,essv80,essv1373,essv19553,essv18748 M 271 0 0 "" NA12762,NA12864,NA12874,NA18991,NA19007 nsv471641 7 64617974 64708472 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549710,nssv549712,nssv549708,nssv549706,nssv549709,nssv549707,nssv549711 M 48 7 0 "" NA11521,NA15725,NA15730,NA16688,NA17015,NA17017,NA17020 nsv428167 7 64617974 64846040 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451054,nssv451052 M 62 0 2 INTS4L2,LOC441242 HGDP00467,HGDP01087 dgv2090e1 7 64617974 64924112 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3044,essv8161,essv1772,essv4241,essv21834,essv17805,essv2014 M 271 0 0 CCT6P1,INTS4L2,LOC441242,SNORA22 NA10831,NA11839,NA18603,NA18949,NA18981,NA18997,NA19206 nsv8126 7 64622041 64649206 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15206,nssv17593,nssv18284,nssv15748 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18504,NA18517,NA19007,NA19144 nsv8127 7 64656284 64785184 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15664,nssv15407,nssv15367,nssv14500,nssv14111,nssv15918,nssv17607,nssv14479,nssv17661,nssv16351,nssv16169,nssv16139,nssv16329,nssv15236,nssv18344,nssv15706,nssv16448,nssv15290,nssv15266,nssv17653,nssv15375,nssv15694,nssv17631,nssv15002,nssv14449,nssv17502,nssv16478,nssv15888,nssv18660,nssv15337,nssv14842,nssv16299,nssv14964,nssv15260,nssv15736,nssv15876,nssv14812,nssv15467,nssv14530,nssv17577,nssv17623,nssv17472,nssv16321,nssv18314,nssv15325,nssv15295,nssv14972,nssv15808,nssv18630,nssv18374,nssv15906,nssv14051 M 31 0 27 Samples from several populations that are part of the HapMap project. INTS4L2,LOC441242 NA07029,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv510963 7 64658142 64776202 OTHER Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621599,nssv624317 M 4 0 0 INTS4L2,LOC441242 NA15510,NA18994 nsv831018 7 64658888 64758764 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446192,nssv1446191 M 95 2 0 INTS4L2,LOC441242 esv23836 7 64711813 64786202 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16054,esv17948,esv10134,esv15083 M 451 4 35 INTS4L2,LOC441242 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv820727 7 64731171 64786202 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420667 S 1 1 0 INTS4L2,LOC441242 NA10851 nsv819275 7 64853424 64933167 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418758 S 2 1 0 CCT6P1,LOC441242,SNORA22 AK1 nsv436763 7 64860171 64865701 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466371 S 2 1 0 Samples from several populations that are part of the HapMap project. CCT6P1,LOC441242 NA18505 esv25201 7 64881002 64930724 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16582 S 451 25 0 "" NA11894,NA12004,NA12156,NA12287,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv8128 7 64883046 64923375 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15948,nssv15320,nssv17683,nssv14872,nssv15838,nssv15296,nssv17637,nssv16199,nssv18404,nssv15497,nssv17532,nssv15796,nssv15405,nssv15355,nssv15065,nssv14509,nssv18690,nssv16381 M 31 18 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv990902 7 64883584 64924888 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586570 S 3 1 0 "" HuRef esv32788 7 64885112 64928610 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98131 S 51 1 0 "" 21772 esv2493786 7 64899088 64918316 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290276 S 1 1 0 "" NA18507 esv260014 7 64899812 64900336 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394777,essv2398573,essv2395615,essv2397821,essv2399339,essv2395105,essv2400366,essv2395729,essv2398428,essv2397916,essv2394533,essv2399523 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10847,NA18501,NA18505,NA18522,NA18550,NA18555,NA18853,NA18871,NA18907,NA18959,NA19137 nsv824144 7 64900390 64918666 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440707 S 31 1 0 "" NA18547 esv271029 7 64943335 64943420 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518513 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 nsv888321 7 65046339 65086976 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519250 S 6533 1 0 GUSB,VKORC1L1 SP80988 esv21527 7 65050797 65105455 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9823 S 451 1 0 GUSB,VKORC1L1 NA18916 dgv7319n71 7 65053082 65104000 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888323,nsv888322,nsv888324 M 6533 3 0 GUSB,VKORC1L1 SP54782,SP55642,SP56294 nsv888325 7 65112354 65213328 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519214 S 6533 0 1 ASL SP80986 esv24643 7 65136118 65137932 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11866 S 451 0 1 "" NA11894 esv2396848 7 65201064 65201483 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797065 S 1 0 1 "" NA18507 nsv511363 7 65224972 65234776 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625936 S 1 0 1 CRCP 1 esv27174 7 65225235 65229472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21174,esv20212 M 451 0 4 CRCP NA11894,NA12489,NA12776,NA12828 nsv511969 7 65227004 65229717 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624512 S 1 0 1 CRCP 1 dgv1113n67 7 65227484 65228947 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824145,nsv824146 M 31 0 9 CRCP AK10,AK8,NA18537,NA18542,NA18592,NA18942,NA18949,NA18997,NA18999 esv1751958 7 65234459 65234459 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159605 S 2 1 0 CRCP HuRef esv2063879 7 65318509 65318911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627063 S 1 0 1 TPST1 NA18507 nsv508458 7 65361657 65480074 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622575 S 4 0 1 LINC00174,TPST1 NA18994 nsv507395 7 65385507 65391507 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617738 S 4 1 0 TPST1 CHM nsv888326 7 65462692 65704434 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592645 S 6533 1 0 LINC00174,LOC493754,TPST1 IS39243 esv32937 7 65480411 65481959 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95055,essv96889,essv95529,essv92673 M 51 4 0 LINC00174 21721,21817,21847,21944 nsv435858 7 65493467 65499696 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466372 S 2 0 1 LINC00174 NA15510 esv999969 7 65494478 65498745 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565624 S 3 0 1 LINC00174 HuRef nsv511970 7 65494791 65498052 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624513 S 1 0 1 LINC00174 1 esv1272173 7 65495094 65497555 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010733 S 2 0 1 LINC00174 HuRef esv274281 7 65530561 65534793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581337 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv888327 7 65576415 65666864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564690 S 6533 0 1 LOC493754 IS30284 dgv1114n67 7 65663594 65668262 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824149,nsv824147,nsv824148 M 31 3 0 LOC493754 NA18942,NA18949,NA18997 nsv824150 7 65665778 65667563 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436721 S 31 1 0 LOC493754 NA18542 nsv525524 7 65773984 65778738 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701658 S 2026 1 0 "" nsv517724 7 65778030 65778738 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683516,nssv683936,nssv660141,nssv690517,nssv653011,nssv689208,nssv689738,nssv662441 M 2026 0 8 "" nsv888328 7 65810475 65965089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600067 S 6533 1 0 LOC729156,RABGEF1 IS41837 nsv888329 7 65872020 66013530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592646 S 6533 1 0 LOC729156,RABGEF1 IS39243 nsv5773 7 65872590 65904218 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10556 S 9 1 0 RABGEF1 NA18956 nsv507396 7 65893628 65899628 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620383,nssv623011 M 4 2 0 RABGEF1 NA15510,NA18994 esv1003570 7 65936334 65940148 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565400 S 3 0 1 LOC729156 HuRef esv268899 7 66008704 66008789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513720 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 esv6642 7 66034844 66035386 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29083 S 1 0 1 C7orf42 SJK essv3137 7 66038865 66356879 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C7orf42,MIR4650-1,MIR4650-2,SBDS,TYW1 NA18969 dgv2091e1 7 66038865 66496688 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv476,essv2029 M 271 0 0 C7orf42,MIR4650-1,MIR4650-2,PMS2P4,SBDS,STAG3L4,TYW1 NA18949 nsv436556 7 66040773 66047516 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466375 S 2 0 1 Samples from several populations that are part of the HapMap project. C7orf42 NA18505 esv33855 7 66057381 66058975 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100716 S 51 0 1 C7orf42 21656 esv23402 7 66121631 66124181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16229 S 451 0 3 TYW1 NA11993,NA18858,NA19099 nsv824151 7 66131507 66145959 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435937 S 31 0 1 TYW1 NA18566 esv33653 7 66131736 66145777 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101440,essv97466,essv96802,essv100962,essv98411 M 51 0 5 TYW1 21603,21616,21659,21693,22352 nsv888330 7 66139606 66515315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504137 S 6533 1 0 MIR4650-1,MIR4650-2,PMS2P4,STAG3L4,TYW1 SP52234 nsv831019 7 66154243 66357920 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446193 S 95 0 1 MIR4650-1,MIR4650-2,TYW1 esv2467105 7 66176215 66176707 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364542 S 1 0 1 TYW1 NA18507 nsv5774 7 66212646 66234519 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4988,nssv3541 M 9 2 0 MIR4650-1,MIR4650-2,TYW1 NA12878,NA19129 nsv509205 7 66224790 66253972 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623513 S 4 1 0 TYW1 NA18994 esv2422035 7 66259399 66314065 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152593,essv5134923,essv5055288,essv5056722,essv5156041,essv5029003,essv5127746,essv5144235,essv5072126,essv5083969,essv5131376,essv5127400,essv5073173,essv5143667,essv5052450,essv5034738,essv5076699,essv5086554,essv5137137,essv5062211,essv5151020,essv5150219,essv5131290,essv5064812,essv5035976,essv5023429,essv5032486,essv5036485,essv5127569,essv5038980,essv5135541,essv5035168,essv5062610,essv5059463,essv5027117,essv5030257,essv5063289,essv5003375,essv5058478,essv5131332,essv5122474,essv5076984,essv5030433,essv5064811,essv5140461,essv5124827,essv5053248,essv5140895,essv5131629,essv5110202,essv5055488,essv5021331,essv5064305,essv5137840,essv5069336,essv5100961,essv5023504,essv5035869,essv5135891,essv5066189,essv5026975,essv5037165,essv5059853,essv5134974,essv5033047,essv5045260,essv5033629,essv5107795,essv5095054,essv5134620,essv5155842,essv5110455,essv5089661,essv5117330,essv5066274,essv5016662,essv5134838,essv5143824,essv5088846,essv5005438,essv5047402,essv5048891,essv5037259,essv5127448,essv5008360,essv5007991,essv5149697,essv5003412,essv5007200,essv5058128,essv5007868,essv5038655,essv5048878,essv5153742,essv5098293,essv5038618,essv5079603,essv5097216,essv5125701,essv5120097,essv5147707,essv5129373,essv5049280,essv5132205,essv5127021,essv5035851,essv5058357,essv5033795,essv5108003,essv5042874,essv5056609,essv5140979,essv5047987,essv5094504,essv5160588,essv5056018,essv5094191,essv5117700,essv5075710,essv5062659,essv5050018,essv5039099,essv5010106,essv5010312,essv5029239,essv5115959,essv5041137,essv5160755,essv5071176,essv5149080,essv5100367,essv5028711,essv5083627,essv5161013,essv5157393,essv5085192,essv5011897,essv5023570,essv5006965,essv5142284,essv5048503,essv5148848,essv5041061,essv5150446,essv5112647,essv5071723,essv5010032,essv5157070,essv5112822,essv5120625,essv5144482,essv5125291,essv5151830,essv5082725,essv5101485,essv5081562,essv5139675,essv5068156,essv5095390,essv5081839,essv5155067,essv5064322,essv5108720,essv5096305,essv5073269,essv5155747,essv5080435,essv5035478,essv5085781,essv5098540,essv5034233,essv5025942,essv5080329,essv5090594,essv5008665,essv5071280,essv5118274,essv5143420,essv5055186,essv5077722,essv5125829,essv5092664,essv5002453,essv5031985,essv5121845,essv5103281,essv5003796,essv5053860,essv5023190,essv5140919,essv5070437,essv5111502,essv5115218,essv5126522,essv5109771,essv5053151,essv5156284,essv5038798,essv5122651,essv5022773,essv5019122,essv5009590,essv5085869,essv5026805,essv5016049,essv5052829,essv5082034,essv5008482,essv5011720,essv5136399,essv5041898,essv5091834,essv5156917,essv5143266,essv5154725,essv5015473,essv5086972,essv5142829,essv5122738,essv5120526,essv5124741,essv5156239,essv5034183,essv5032847,essv5156266,essv5034395,essv5129493,essv5031148,essv5155673,essv5108504,essv5134309,essv5111074,essv5012465,essv5054479,essv5105999,essv5055758,essv5159354,essv5016502,essv5082904,essv5004026,essv5101774,essv5098077,essv5115763,essv5046737,essv5017435,essv5012197,essv5109632,essv5147101,essv5129923,essv5120670,essv5123773,essv5095474,essv5063379,essv5126318,essv5102769,essv5153177,essv5029915,essv5066907,essv5118639,essv5126624,essv5098703,essv5037562,essv5093175,essv5007626,essv5033196,essv5082637,essv5158715,essv5139082,essv5023488,essv5020236,essv5039872,essv5090052,essv5114849,essv5052158,essv5105333,essv5102315,essv5029225,essv5029899,essv5128142,essv5094949,essv5103910,essv5055232,essv5045361,essv5030925,essv5039535,essv5008971,essv5090547,essv5074703,essv5054484,essv5041412,essv5082449,essv5084188,essv5158119,essv5025687,essv5024033,essv5159881,essv5054180,essv5042979,essv5080154,essv5096509,essv5136369,essv5071878,essv5094292,essv5079244,essv5151573,essv5043828,essv5013506,essv5099179,essv5086320,essv5063744,essv5115526,essv5133169,essv5113222,essv5027618,essv5051954,essv5139915,essv5103705,essv5139322,essv5033953,essv5093540,essv5051332,essv5020065,essv5143546,essv5063460,essv5087742,essv5090726,essv5112711,essv5148100,essv5098852,essv5038165,essv5151774,essv5096644,essv5055566,essv5021605,essv5076618,essv5062253,essv5060763,essv5063175,essv5029998,essv5126259,essv5097935,essv5010561,essv5011195,essv5080287,essv5111519,essv5066423,essv5085739,essv5133656,essv5036859,essv5122215,essv5055888,essv5042469,essv5086429,essv5135867,essv5079938,essv5109828,essv5085155,essv5071545,essv5042049,essv5030239,essv5111585,essv5094729,essv5099086,essv5019724,essv5121269,essv5131471,essv5021687,essv5159187,essv5067053,essv5009331,essv5013503,essv5042928,essv5160600,essv5141274,essv5108508,essv5129522,essv5013645,essv5113877,essv5029520,essv5090623,essv5140366,essv5128639,essv5157530,essv5145956,essv5102287,essv5123167,essv5068735,essv5038028,essv5055108,essv5096696,essv5044618,essv5106039,essv5037725,essv5086828,essv5146049,essv5132453,essv5028588,essv5025806,essv5054284,essv5049570,essv5117919,essv5090739,essv5082879,essv5066079,essv5055695,essv5059425,essv5060346,essv5104836,essv5107400,essv5116613,essv5023098,essv5026256,essv5089998,essv5079132,essv5090314,essv5071365,essv5098325,essv5092078,essv5077050,essv5096226,essv5158555,essv5124548,essv5056461,essv5140451,essv5067198,essv5025953,essv5091259,essv5034308,essv5129904,essv5092428,essv5152893,essv5067784,essv5142642,essv5059897,essv5032667,essv5056071,essv5045120,essv5001894,essv5029435,essv5063181,essv5081024,essv5150486,essv5127269,essv5097503,essv5144070,essv5057386,essv5065489,essv5069685,essv5046493,essv5002478,essv5055898,essv5121733,essv5101760,essv5014053,essv5009648,essv5054350,essv5139086,essv5010324,essv5042110,essv5150581,essv5105888,essv5076312,essv5025579,essv5115953,essv5154232,essv5041902,essv5061982,essv5009460,essv5002727,essv5010297,essv5042694,essv5113140,essv5160941,essv5148023,essv5067203,essv5124363,essv5035768,essv5067104,essv5004785,essv5091484,essv5130607,essv5025871,essv5141263,essv5042597,essv5041067,essv5138674,essv5148793,essv5131083,essv5070434,essv5138988,essv5062981,essv5011108,essv5141596,essv5020932,essv5014311,essv5051532,essv5088011,essv5070983,essv5027700,essv5015288,essv5061901,essv5141859,essv5058571,essv5113756,essv5013977,essv5049912,essv5029174,essv5041094,essv5038820,essv5103959,essv5008185,essv5028427,essv5048181,essv5041089,essv5090450,essv5002392,essv5024055,essv5058030,essv5028585,essv5012820,essv5061174,essv5009729,essv5083470,essv5079751,essv5017397,essv5087506,essv5045628,essv5107295,essv5087377,essv5016897,essv5051239,essv5037053,essv5074929,essv5002328,essv5153227,essv5092014,essv5067584,essv5077496,essv5126128,essv5110301,essv5024466,essv5095100,essv5105111,essv5098390,essv5140599,essv5071704,essv5114382,essv5119335,essv5032305,essv5136077,essv5140965,essv5038653,essv5135386,essv5067347,essv5130651,essv5119048,essv5081285,essv5120627,essv5124949,essv5020701,essv5160277,essv5050114,essv5112710,essv5148772,essv5090817 M 1184 0 565 TYW1 NA06984,NA06985,NA06991,NA07000,NA07014,NA07022,NA07029,NA07037,NA07051,NA07345,NA07347,NA07348,NA07349,NA07435,NA10830,NA10831,NA10836,NA10843,NA10845,NA10846,NA10854,NA10855,NA10859,NA10861,NA10863,NA10865,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11892,NA11893,NA11919,NA11930,NA11931,NA11993,NA11995,NA12003,NA12056,NA12145,NA12154,NA12156,NA12234,NA12282,NA12283,NA12342,NA12343,NA12344,NA12348,NA12375,NA12383,NA12386,NA12399,NA12400,NA12708,NA12718,NA12739,NA12749,NA12760,NA12762,NA12763,NA12776,NA12812,NA12815,NA12817,NA12818,NA12827,NA12829,NA12832,NA12842,NA12843,NA12865,NA12873,NA12874,NA12878,NA12891,NA12892,NA17962,NA17968,NA18101,NA18102,NA18132,NA18138,NA18140,NA18152,NA18156,NA18166,NA18485,NA18487,NA18488,NA18489,NA18497,NA18499,NA18500,NA18501,NA18507,NA18509,NA18511,NA18516,NA18518,NA18519,NA18520,NA18524,NA18526,NA18534,NA18548,NA18559,NA18566,NA18571,NA18579,NA18594,NA18595,NA18596,NA18610,NA18619,NA18670,NA18696,NA18853,NA18854,NA18857,NA18858,NA18859,NA18861,NA18862,NA18863,NA18867,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18912,NA18923,NA18933,NA18934,NA18935,NA18940,NA18946,NA18947,NA18957,NA18967,NA18970,NA18974,NA18975,NA18981,NA18990,NA18994,NA18997,NA19001,NA19027,NA19036,NA19038,NA19044,NA19046,NA19055,NA19058,NA19060,NA19077,NA19086,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19108,NA19113,NA19114,NA19115,NA19116,NA19120,NA19121,NA19122,NA19127,NA19128,NA19129,NA19130,NA19132,NA19143,NA19146,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19179,NA19180,NA19183,NA19185,NA19189,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19201,NA19202,NA19203,NA19206,NA19208,NA19210,NA19211,NA19213,NA19215,NA19225,NA19226,NA19235,NA19237,NA19238,NA19240,NA19248,NA19249,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19313,NA19315,NA19316,NA19317,NA19324,NA19334,NA19359,NA19360,NA19371,NA19375,NA19377,NA19380,NA19382,NA19383,NA19384,NA19385,NA19390,NA19394,NA19396,NA19397,NA19404,NA19428,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19468,NA19469,NA19470,NA19472,NA19473,NA19474,NA19625,NA19649,NA19651,NA19654,NA19656,NA19658,NA19659,NA19660,NA19664,NA19669,NA19670,NA19675,NA19676,NA19678,NA19681,NA19682,NA19701,NA19702,NA19703,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19725,NA19749,NA19750,NA19751,NA19756,NA19757,NA19761,NA19762,NA19763,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19789,NA19790,NA19818,NA19819,NA19828,NA19834,NA19836,NA19900,NA19901,NA19902,NA19904,NA19914,NA19915,NA19919,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20277,NA20281,NA20287,NA20288,NA20289,NA20290,NA20291,NA20294,NA20295,NA20302,NA20333,NA20335,NA20336,NA20337,NA20340,NA20341,NA20344,NA20348,NA20349,NA20350,NA20356,NA20358,NA20360,NA20502,NA20505,NA20506,NA20509,NA20517,NA20521,NA20524,NA20525,NA20527,NA20528,NA20530,NA20538,NA20539,NA20540,NA20541,NA20542,NA20582,NA20586,NA20588,NA20756,NA20757,NA20768,NA20770,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20796,NA20797,NA20799,NA20801,NA20802,NA20806,NA20808,NA20813,NA20815,NA20816,NA20818,NA20846,NA20849,NA20850,NA20853,NA20854,NA20856,NA20862,NA20866,NA20869,NA20870,NA20872,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20890,NA20896,NA20898,NA20900,NA20901,NA20910,NA20911,NA21090,NA21091,NA21094,NA21097,NA21098,NA21099,NA21100,NA21102,NA21103,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21142,NA21143,NA21295,NA21297,NA21300,NA21307,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21333,NA21336,NA21339,NA21344,NA21353,NA21357,NA21362,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21379,NA21382,NA21383,NA21386,NA21387,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21417,NA21418,NA21423,NA21436,NA21438,NA21439,NA21440,NA21441,NA21447,NA21448,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21494,NA21509,NA21510,NA21513,NA21520,NA21521,NA21522,NA21524,NA21526,NA21527,NA21528,NA21574,NA21575,NA21576,NA21577,NA21578,NA21583,NA21587,NA21596,NA21597,NA21599,NA21600,NA21608,NA21616,NA21617,NA21619,NA21620,NA21632,NA21634,NA21635,NA21647,NA21650,NA21683,NA21685,NA21689,NA21693,NA21719,NA21722,NA21733,NA21738,NA21776,NA21825,NA21826 nsv441983 7 66266764 66282667 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TYW1 esv2253832 7 66334879 66336929 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860790 S 1 0 1 TYW1 NA18507 esv26455 7 66335018 66336838 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17996 S 451 0 5 TYW1 NA06985,NA12878,NA18907,NA19108,NA19114 dgv2092e1 7 66336937 66496688 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10009,essv17014 M 271 0 0 PMS2P4,STAG3L4,TYW1 NA19099,NA19144 nsv8129 7 66372851 66404104 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18720,nssv15868,nssv15397,nssv14141,nssv14902,nssv15385,nssv17933,nssv16411,nssv17691 M 31 8 1 Samples from several populations that are part of the HapMap project. PMS2P4 NA11830,NA12872,NA18860,NA18942,NA18972,NA18980,NA19144,NA19221,NA19240 esv29559 7 66373415 66405265 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13926,esv15711 M 451 14 0 PMS2P4,STAG3L4 NA12489,NA12749,NA18505,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19225,NA19257 nsv508460 7 66390920 66398989 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619989 S 4 0 1 PMS2P4 NA15510 nsv510086 7 66420587 66426587 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621312 S 4 0 1 STAG3L4 NA15510 nsv5775 7 66441119 66472770 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10557 S 9 1 0 "" NA18956 esv33458 7 66481433 66486879 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100701 S 51 0 1 "" 21656 esv33523 7 66492870 66596333 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99376 S 51 0 1 "" 22335 esv29139 7 66495893 66497038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10381 S 451 0 1 "" NA19114 nsv469631 7 66515749 66673776 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649557 M 265 0 2 Samples from several populations that are part of the HapMap project. "" nsv366792 7 66560809 66564614 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385370 M 24 "" esv2228207 7 66561828 66562284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514924 S 1 0 1 "" NA18507 esv2495560 7 66562025 66562179 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211590 S 1 0 1 "" NA18507 esv29556 7 66603799 66606193 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21300 S 451 0 1 "" NA12414 nsv5777 7 66665528 66686272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv644 S 9 1 0 "" NA19240 esv2102207 7 66697239 66697761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603740 S 1 0 1 "" NA18507 nsv824152 7 66750546 66751114 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432949 S 31 1 0 "" NA18972 esv1073297 7 66758419 66758493 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849766 S 2 0 1 "" HuRef esv2654031 7 66768157 66769785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202238 S 1 0 1 "" NA18507 esv29108 7 66768613 66769584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14275 S 451 0 22 "" NA06985,NA07045,NA11894,NA11931,NA12006,NA12044,NA12156,NA12287,NA12776,NA12878,NA18502,NA18508,NA18511,NA18858,NA18907,NA18909,NA18916,NA19114,NA19129,NA19190,NA19225,NA19257 esv2012890 7 66769072 66769751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4958660 S 1 0 1 "" NA18507 esv6037 7 66769214 66769591 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28478 S 1 0 1 "" SJK esv1734563 7 66770374 66770374 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3705353 S 2 1 0 "" HuRef nsv5778 7 66793122 66814450 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2764 S 9 1 0 "" NA18555 esv259568 7 66815113 66815399 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394241,essv2393907 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv516986 7 66835559 66844144 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684846,nssv653555,nssv682054,nssv651922,nssv662259,nssv690719,nssv691731,nssv698199 M 2026 0 8 "" esv2082426 7 66855524 66855940 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809253 S 1 0 1 "" NA18507 nsv5779 7 66887199 66920106 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4990 S 9 1 0 "" NA19129 nsv366328 7 66904193 66912869 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384906 M 24 "" nsv520345 7 66988718 66990206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680364,nssv663095,nssv683603 M 2026 0 3 "" esv996928 7 67057010 67073463 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586298 S 3 1 0 "" HuRef nsv366542 7 67065362 67065362 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385120 M 24 "" esv24868 7 67066074 67077765 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11082 S 451 3 0 "" NA11995,NA18511,NA19190 nsv510087 7 67131988 67137988 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618262,nssv624035,nssv621313,nssv622136 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1995952 7 67269318 67269848 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906111 S 1 0 1 "" NA18507 esv275365 7 67283221 67285342 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585185,essv2585511 M 1250 1 1 "" nsv888331 7 67325339 67590522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529808 S 6533 0 1 "" MS10123 esv1927647 7 67344667 67345104 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753614 S 1 0 1 "" NA18507 esv2581861 7 67363352 67364974 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196142 S 1 0 1 "" NA18507 esv2025205 7 67364319 67364882 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919770 S 1 0 1 "" NA18507 esv8857 7 67364377 67364663 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31298 S 1 0 1 "" SJK esv1480896 7 67364377 67364695 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061190 S 2 0 1 "" HuRef esv999963 7 67364743 67365225 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564401 S 3 0 1 "" HuRef nsv888332 7 67388603 67507776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517664 S 6533 1 0 "" SP57341 nsv888333 7 67461818 67550019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502844 S 6533 1 0 "" SP51427 esv2543971 7 67565314 67566270 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319917 S 1 1 0 "" NA18507 nsv888334 7 67591784 67631039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514603 S 6533 0 1 "" SP56029 nsv888335 7 67652964 67682543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504268 S 6533 0 1 "" SP52390 nsv515861 7 67663194 67663343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688488,nssv665051,nssv667871,nssv675076 M 2026 0 4 "" nsv831020 7 67676395 67811869 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446194 S 95 0 1 "" esv1603728 7 67767008 67767141 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762729 S 2 0 1 "" HuRef esv988825 7 67825445 67826011 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587223 S 3 0 1 "" HuRef nsv512912 7 67864369 67864623 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625559 S 1 1 0 "" 1 esv1783187 7 67864437 67864437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921268 S 2 1 0 "" HuRef esv1002440 7 67864437 67864494 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565685 S 3 1 0 "" HuRef esv24688 7 67900076 67900710 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18457 S 451 1 0 "" NA07037 nsv888336 7 67936500 68003181 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591126 S 6533 1 0 "" IS38640 esv259802 7 68052025 68052351 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398599,essv2399070,essv2395276,essv2400915,essv2398060,essv2395240,essv2397705,essv2399241,essv2397864,essv2400142,essv2396200 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA10851,NA11918,NA11993,NA12144,NA18499,NA18502,NA18508,NA18577,NA18608,NA18944 esv1268797 7 68052125 68052125 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275197 S 2 1 0 "" HuRef nsv5780 7 68071522 68105823 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv645 S 9 1 0 "" NA19240 nsv365879 7 68092308 68100592 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384457 M 24 "" esv2647062 7 68099698 68101209 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254207 S 1 0 1 "" NA18507 esv2202025 7 68099815 68100521 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713500 S 1 0 1 "" NA18507 esv1007861 7 68100016 68100334 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577179 S 3 0 1 "" HuRef esv1502595 7 68100019 68100338 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064352 S 2 0 1 "" HuRef esv6994 7 68100021 68100322 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29435 S 1 0 1 "" SJK nsv5781 7 68159633 68192063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6139 S 9 1 0 "" NA12156 esv1193447 7 68331500 68331500 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787164 S 2 1 0 "" HuRef nsv365718 7 68500755 68501052 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384296 M 24 "" nsv5782 7 68584819 68629840 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8384 S 9 0 1 "" NA12156 nsv428169 7 68659418 68834679 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451055 S 62 1 0 AUTS2 HGDP01094 nsv5783 7 68686544 68704696 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8385 S 9 0 1 AUTS2 NA12156 nsv831021 7 68760105 69002427 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446195 S 95 0 1 AUTS2 nsv5784 7 68971774 69006365 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3542 S 9 1 0 AUTS2 NA12878 dgv2093e1 7 69050440 69232097 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv196,essv10056 M 271 0 0 AUTS2 NA19099 esv1786451 7 69106433 69106433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104227 S 2 1 0 AUTS2 HuRef esv1237822 7 69106602 69106602 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341078 S 2 1 0 AUTS2 HuRef esv2014387 7 69194823 69195223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643119 S 1 0 1 AUTS2 NA18507 nsv888337 7 69345012 69590123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577424 S 6533 0 1 AUTS2 IS34440 nsv510088 7 69368248 69374248 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618263 S 4 0 1 AUTS2 CHM dgv7320n71 7 69498649 69596995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888338,nsv888339,nsv888340 M 6533 0 7 AUTS2 IS38207,IS40492,MS19584,MS21189,MS21706,MS21814,MS21868 nsv528973 7 69525021 69531198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705672 S 2026 0 1 AUTS2 esv1333857 7 69599932 69600019 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304031 S 2 0 1 AUTS2 HuRef esv267655 7 69606968 69607053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518558 S 157 1 0 Samples from several populations that are part of the HapMap project. AUTS2 NA12287 nsv522876 7 69688378 69709915 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698531 S 2026 0 1 AUTS2 nsv464546 7 69709856 69738283 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540442 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AUTS2 HGDP00971 nsv519090 7 69723870 70709832 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696563 S 2026 1 0 AUTS2,MIR3914-1,MIR3914-2,WBSCR17 esv1007231 7 69763293 69767387 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564488 S 3 0 1 AUTS2 HuRef esv2555170 7 69826055 69826974 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162153 S 1 1 0 AUTS2 NA18507 esv1769312 7 69826625 69826625 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129191 S 2 1 0 AUTS2 HuRef nsv831022 7 69827287 69876115 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446197 S 95 0 1 AUTS2 nsv820114 7 69832589 69841026 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419870 S 2 1 0 AUTS2 AK1 nsv821229 7 69833601 69841054 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420668 S 1 0 1 AUTS2 NA10851 esv27068 7 69833880 69841054 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17141 S 451 40 0 AUTS2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv442052 7 69835214 69840607 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 AUTS2 nsv888341 7 69887294 69954301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577801 S 6533 0 1 AUTS2 IS34572 dgv230e55 7 69953785 69994997 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752175,esv2752176 M 771 2 0 "" BEC_400,SPC_88 dgv820n27 7 69959579 70002038 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464553,nsv464549,nsv464554,nsv464552,nsv464547,nsv464551,nsv464548 M 1557 7 0 "" HGDP00522,HGDP00562,HGDP00730,HGDP00884,HGDP00891,HGDP01396,HGDP01400 nsv470288 7 69959579 70013220 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545776,nssv545765 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00891,HGDP00892 esv6059 7 69970590 69970671 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28500 S 1 1 0 "" SJK nsv5785 7 69973510 69985577 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4991 S 9 1 0 "" NA19129 nsv464555 7 69974054 70009130 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540451 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00639 esv1490390 7 69991184 69991236 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117427 S 2 0 1 "" HuRef nsv508461 7 70002244 70081238 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622577,nssv618813,nssv617348 M 4 0 3 "" CHM,NA10860,NA18994 nsv7401 7 70019315 70114254 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6140,nssv3543,nssv6142,nssv2662,nssv3545 M 9 0 0 "" NA12156,NA12878,NA18555 nsv5786 7 70045678 70092063 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2661,nssv3544,nssv6141 M 9 0 3 "" NA12156,NA12878,NA18555 nsv511358 7 70057754 70064316 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625877 S 1 0 1 "" 1 nsv8130 7 70058697 70064977 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17697,nssv16508,nssv14539,nssv15350,nssv16471,nssv15633,nssv16229,nssv15928,nssv17773,nssv15487,nssv17592,nssv14201,nssv16259,nssv15475,nssv18464,nssv15936,nssv15326,nssv15898,nssv18494,nssv15826,nssv17667,nssv16538,nssv16359,nssv15465,nssv15457,nssv17713,nssv15356,nssv17963,nssv18750,nssv17721,nssv14171,nssv16501,nssv16389,nssv15415,nssv17993,nssv17562 M 31 22 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA11830,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18572,NA18853,NA18860,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv55n50 7 70058847 70076808 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513675,nsv513676 M 1 0 0 "" 1 esv3868 7 70058865 70076604 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26309 S 1 0 1 Single Asian sample YH "" YH nsv820401 7 70058870 70064249 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420670 S 1 0 1 "" NA10851 nsv824153 7 70058870 70064249 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429898,nssv1441148,nssv1433733,nssv1436722,nssv1427041,nssv1424292,nssv1433596,nssv1440432,nssv1428377,nssv1426767,nssv1425060 M 31 0 11 "" AK10,AK14,AK2,AK6,NA18526,NA18542,NA18564,NA18582,NA18592,NA18968,NA18969 esv1914953 7 70058906 70076823 OTHER Inversion Feuk_et_al_2005 16254605 FISH,PCR Not Provided essv4491060 S 18 0 0 "" esv8147 7 70058907 70076553 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30588 S 1 0 0 "" SJK esv27959 7 70058925 70063775 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14805 S 451 30 0 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19225,NA19240 esv2421537 7 70058925 70064077 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5026054,essv5019549,essv5100534,essv5076569,essv5105810,essv5132199,essv5004981,essv5112665,essv5024834,essv5015198,essv5134291,essv5004526,essv5044478,essv5019167,essv5158213,essv5109201,essv5027262,essv5052771,essv5121252,essv5077231,essv5137013,essv5136869,essv5007484,essv5109445,essv5125130,essv5011177,essv5141711,essv5047328,essv5039497,essv5039876,essv5068369,essv5157883,essv5029544,essv5012076,essv5057288,essv5081844,essv5007867,essv5037091,essv5049607,essv5078781,essv5017613,essv5131928,essv5079609,essv5008745,essv5060792,essv5063137,essv5103809,essv5160360,essv5131106,essv5002417,essv5009607,essv5023527,essv5044257,essv5036915,essv5003750,essv5035981,essv5152138,essv5038911,essv5004935,essv5013972,essv5107714,essv5147227,essv5041039,essv5105760,essv5124491,essv5003530,essv5093143,essv5049833,essv5043900,essv5067175,essv5053395,essv5124763,essv5004519,essv5083468,essv5114657,essv5022382,essv5033268,essv5042106,essv5050228,essv5066144,essv5119324,essv5138052,essv5041080,essv5030108,essv5110034,essv5023367,essv5088496,essv5097208,essv5052866,essv5126620,essv5132093,essv5087594,essv5065961,essv5068265,essv5147779,essv5064967,essv5019213,essv5096908,essv5060278,essv5030174,essv5079097,essv5058093,essv5072748,essv5083045,essv5078216,essv5145163,essv5094011,essv5027415,essv5145816,essv5127835,essv5076765,essv5040175,essv5033843,essv5101558,essv5079378,essv5084607,essv5142725,essv5103212,essv5150947,essv5153904,essv5010913,essv5017617,essv5137135,essv5013494,essv5062587,essv5009226,essv5131616,essv5009201,essv5086257,essv5044894,essv5009958,essv5100048,essv5110586,essv5053526,essv5044616,essv5013923,essv5004928,essv5007517,essv5151655,essv5139437,essv5133652,essv5099219,essv5130902,essv5160359,essv5088851,essv5151280,essv5133207,essv5128148,essv5096689,essv5048872,essv5096221,essv5030283,essv5048395,essv5153199,essv5021108,essv5063107,essv5048394,essv5088550,essv5043085,essv5145788,essv5033659,essv5024517,essv5115785,essv5006413,essv5082410,essv5053117,essv5025204,essv5052811,essv5055312,essv5010267,essv5045611,essv5150259,essv5037559,essv5015038,essv5159165,essv5043261,essv5089767,essv5111872,essv5053381,essv5061196,essv5015655,essv5023388,essv5050539,essv5021126,essv5123614,essv5064001,essv5061979,essv5024980,essv5041247,essv5079107,essv5087038,essv5110842,essv5154142,essv5013196,essv5156749,essv5133625,essv5127435,essv5015448,essv5053662,essv5006697,essv5128499,essv5069371,essv5081378,essv5083895,essv5108380,essv5135742,essv5111779,essv5138600,essv5123504,essv5083857,essv5089269,essv5119357,essv5010642,essv5011040,essv5139729,essv5145698,essv5120191,essv5141345,essv5073149,essv5136762,essv5111701,essv5090846,essv5109665,essv5156085,essv5116242,essv5004436,essv5014533,essv5023475,essv5048356,essv5021660,essv5079111,essv5037900,essv5011855,essv5156887,essv5108236,essv5009487,essv5132639,essv5040311,essv5153461,essv5057959,essv5046388,essv5054674,essv5062094,essv5140709,essv5072001,essv5073787,essv5029510,essv5015560,essv5073893,essv5095477,essv5054581,essv5083952,essv5067121,essv5150168,essv5006717,essv5083283,essv5107378,essv5052206,essv5030838,essv5110211,essv5111975,essv5100445,essv5038429,essv5049180,essv5150222,essv5105500,essv5031500,essv5072950,essv5144726,essv5102597,essv5098418,essv5108570,essv5060280,essv5125440,essv5078995,essv5036155,essv5073358,essv5082588,essv5067558,essv5130004,essv5058726,essv5102703,essv5113469,essv5060840,essv5098067,essv5033031,essv5056678,essv5028101,essv5095436,essv5011097,essv5107117,essv5088078,essv5061408,essv5141965,essv5050591,essv5035343,essv5127713,essv5100492,essv5059649,essv5094789,essv5152943,essv5009496,essv5149217,essv5160299,essv5091144,essv5029701,essv5022397,essv5069398,essv5005647,essv5054943,essv5145931,essv5057375,essv5126950,essv5029557,essv5088929,essv5108780,essv5128730,essv5117521,essv5133917,essv5051262,essv5127929,essv5055957,essv5116158,essv5060813,essv5123165,essv5097520,essv5071183,essv5005935,essv5115533,essv5071661,essv5089016,essv5081661,essv5129862,essv5115333,essv5030766,essv5160531,essv5097342,essv5043393,essv5062926,essv5053492,essv5131068,essv5104097,essv5051718,essv5067764,essv5045107,essv5083375,essv5014209,essv5020611,essv5115648,essv5017774,essv5114523,essv5014640,essv5118831,essv5007282,essv5042817,essv5020986,essv5094074,essv5100732,essv5111550,essv5082987,essv5088727,essv5092696,essv5030898,essv5088512,essv5009630,essv5038530,essv5104191,essv5119333,essv5113433,essv5116786,essv5033924,essv5045730,essv5014203,essv5026837,essv5047139,essv5139853,essv5149790,essv5125707,essv5142410,essv5101812,essv5072378,essv5030960,essv5157305,essv5132566,essv5094099,essv5107466,essv5075895,essv5074405,essv5023832,essv5069480,essv5069379,essv5022402,essv5140498,essv5151892,essv5132894,essv5078601,essv5091487,essv5059727,essv5007549,essv5133402,essv5038710,essv5088823,essv5160907,essv5122505,essv5101411,essv5129825,essv5040304,essv5134104,essv5091868,essv5003803,essv5120019,essv5125711,essv5072456,essv5061326,essv5110128,essv5047961,essv5026393,essv5031966,essv5103718,essv5159471,essv5010345,essv5145790,essv5031036,essv5104791,essv5147297,essv5002493,essv5143167,essv5026321,essv5109062,essv5044672,essv5154748,essv5004127,essv5028220,essv5048781,essv5058967,essv5119699,essv5105165,essv5090208,essv5123607,essv5061026,essv5101131,essv5155579,essv5092790,essv5025555,essv5119802,essv5092222,essv5132541,essv5156144,essv5129828,essv5009397,essv5010149,essv5102349,essv5054938,essv5051547,essv5143532,essv5053008,essv5009402,essv5085514,essv5117393,essv5103473,essv5057608,essv5133979,essv5079177,essv5072609,essv5037675,essv5147335,essv5019314,essv5081252,essv5038455,essv5129116,essv5128229,essv5136814,essv5038326,essv5092252,essv5104205,essv5016767,essv5153572,essv5023095,essv5102574,essv5079772,essv5080738,essv5090523,essv5131515,essv5110297,essv5031616,essv5026004,essv5047330,essv5013360,essv5043868,essv5053212,essv5139553,essv5064077,essv5041306,essv5082205,essv5034802,essv5092466,essv5032471,essv5148834,essv5040666,essv5076430,essv5051109,essv5003320,essv5047590,essv5115539,essv5069450,essv5071968,essv5077772,essv5131296,essv5141744,essv5064157,essv5117131,essv5026991,essv5015124,essv5079750,essv5152215,essv5148340,essv5127823,essv5157451,essv5056973,essv5023921,essv5009054,essv5071150,essv5101159,essv5082629,essv5062434,essv5035112,essv5140003,essv5049908,essv5060028,essv5026338,essv5119837,essv5102853,essv5016610,essv5044607,essv5013373,essv5107114,essv5126567,essv5003097,essv5020920,essv5049966,essv5086106,essv5136719,essv5126341,essv5077451,essv5058473,essv5086751,essv5124775,essv5156078,essv5019822,essv5089030,essv5156703,essv5019307,essv5144424,essv5027843,essv5136598,essv5087024,essv5161126,essv5055941,essv5011409,essv5053637,essv5019615,essv5018295,essv5078349,essv5060431,essv5127540,essv5083459,essv5132852,essv5084572,essv5021354,essv5022093,essv5108448,essv5048871,essv5009583,essv5073648,essv5149810,essv5098072,essv5016145,essv5098749,essv5153787,essv5094809,essv5068523,essv5061601,essv5055792,essv5103451,essv5144616,essv5096243,essv5097230,essv5131975,essv5035390,essv5059436,essv5124506,essv5084696,essv5041860,essv5012081,essv5104835,essv5159101,essv5160093,essv5055871,essv5133788,essv5008169,essv5127385,essv5007763,essv5101870,essv5141201,essv5153198,essv5042117,essv5150403,essv5144592,essv5016771,essv5082441,essv5046681,essv5077595,essv5034290,essv5120666,essv5078019,essv5146001,essv5119077,essv5147265,essv5157058,essv5075690,essv5109494,essv5080646,essv5093245,essv5007631,essv5092138,essv5066741,essv5051801,essv5129952,essv5068956,essv5097240,essv5070731,essv5069704,essv5037894,essv5004589,essv5067094,essv5144741,essv5157913,essv5140694,essv5126863,essv5104805,essv5154793,essv5029647,essv5050665,essv5045335,essv5128154,essv5147465,essv5054710,essv5098053,essv5117742,essv5038598,essv5135323,essv5040939,essv5159132,essv5030281,essv5004004,essv5079675,essv5057527,essv5011499,essv5153975,essv5138819,essv5099071,essv5126310,essv5126162,essv5026484,essv5101166,essv5142033,essv5058221,essv5046729,essv5032406,essv5017769,essv5130642,essv5005771,essv5160193,essv5093648,essv5112621,essv5133811,essv5009173,essv5062974,essv5075966,essv5006067,essv5042876,essv5131315,essv5142807,essv5110838,essv5064988,essv5159648,essv5161048,essv5148624,essv5045197,essv5114258,essv5097519,essv5157996,essv5032738,essv5139262,essv5010180,essv5100403,essv5072913,essv5065491,essv5073737,essv5056811,essv5068095,essv5142382,essv5099795,essv5140618,essv5024964,essv5046166,essv5076679,essv5130307,essv5113613,essv5096652,essv5096453,essv5084175,essv5125295,essv5128129,essv5088994,essv5051233,essv5019861,essv5015467,essv5123835,essv5011029,essv5023066,essv5013655,essv5094984,essv5141967,essv5134101,essv5086670,essv5113020,essv5037730,essv5104096,essv5091719,essv5143398,essv5055649,essv5045590,essv5144618,essv5140772,essv5149101,essv5127718,essv5031211,essv5065708,essv5029669,essv5003652,essv5115260,essv5032688,essv5022717,essv5090996,essv5120342,essv5072746,essv5027409,essv5050406,essv5100410,essv5052128,essv5055412,essv5008695,essv5090155,essv5124431,essv5063866,essv5083573,essv5057758,essv5095006,essv5098076,essv5044259,essv5097826,essv5131197,essv5076938,essv5048307,essv5014781,essv5124661,essv5027279,essv5087821,essv5116682,essv5011768,essv5034441,essv5008004,essv5018379,essv5150137,essv5100146,essv5151414,essv5036772,essv5052734,essv5107182,essv5089810,essv5129914,essv5007269,essv5122874,essv5090265,essv5142958,essv5108299,essv5092598,essv5098904,essv5110699,essv5121334,essv5042913,essv5092825,essv5031628,essv5155675,essv5008655,essv5095699,essv5126263,essv5096446,essv5160644,essv5076792,essv5109766,essv5073897,essv5106421,essv5008629,essv5131855,essv5007723,essv5121027,essv5013320,essv5150184,essv5053362,essv5006492,essv5014324,essv5028116,essv5009635,essv5075236,essv5160245,essv5039959,essv5105479,essv5084159,essv5101751,essv5117547,essv5078088,essv5101940 M 1184 0 824 "" NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12750,NA12752,NA12753,NA12760,NA12761,NA12762,NA12766,NA12767,NA12775,NA12776,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17995,NA17996,NA17997,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18112,NA18114,NA18118,NA18122,NA18124,NA18125,NA18128,NA18129,NA18131,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18146,NA18147,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18159,NA18160,NA18161,NA18162,NA18166,NA18485,NA18486,NA18487,NA18488,NA18497,NA18499,NA18500,NA18503,NA18505,NA18508,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18603,NA18608,NA18609,NA18610,NA18611,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18641,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18854,NA18858,NA18861,NA18863,NA18870,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18913,NA18923,NA18925,NA18934,NA18935,NA18939,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19001,NA19005,NA19007,NA19009,NA19010,NA19035,NA19036,NA19054,NA19055,NA19056,NA19057,NA19059,NA19062,NA19063,NA19064,NA19066,NA19068,NA19070,NA19072,NA19075,NA19076,NA19077,NA19078,NA19081,NA19083,NA19085,NA19087,NA19088,NA19093,NA19094,NA19096,NA19097,NA19099,NA19107,NA19109,NA19116,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19147,NA19148,NA19149,NA19150,NA19151,NA19153,NA19175,NA19178,NA19180,NA19185,NA19189,NA19190,NA19191,NA19193,NA19194,NA19197,NA19199,NA19201,NA19202,NA19203,NA19204,NA19207,NA19208,NA19210,NA19211,NA19213,NA19214,NA19215,NA19222,NA19224,NA19225,NA19235,NA19239,NA19256,NA19257,NA19258,NA19308,NA19309,NA19313,NA19314,NA19321,NA19327,NA19328,NA19332,NA19334,NA19359,NA19360,NA19371,NA19379,NA19381,NA19382,NA19385,NA19391,NA19396,NA19397,NA19399,NA19404,NA19428,NA19436,NA19438,NA19439,NA19440,NA19444,NA19446,NA19448,NA19451,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19468,NA19469,NA19470,NA19472,NA19649,NA19650,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19663,NA19664,NA19669,NA19670,NA19671,NA19675,NA19676,NA19678,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19713,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19750,NA19751,NA19755,NA19756,NA19757,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19819,NA19828,NA19834,NA19914,NA19921,NA20126,NA20128,NA20129,NA20276,NA20279,NA20281,NA20282,NA20284,NA20288,NA20291,NA20294,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20334,NA20336,NA20347,NA20350,NA20356,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20529,NA20531,NA20534,NA20535,NA20538,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20753,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20801,NA20803,NA20805,NA20806,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20846,NA20847,NA20850,NA20851,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20882,NA20883,NA20884,NA20885,NA20887,NA20889,NA20894,NA20895,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21098,NA21099,NA21101,NA21103,NA21104,NA21106,NA21107,NA21108,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21295,NA21297,NA21307,NA21308,NA21312,NA21313,NA21314,NA21320,NA21336,NA21344,NA21353,NA21356,NA21363,NA21365,NA21366,NA21367,NA21370,NA21382,NA21384,NA21388,NA21389,NA21390,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21423,NA21436,NA21439,NA21441,NA21442,NA21447,NA21448,NA21453,NA21454,NA21473,NA21475,NA21477,NA21478,NA21480,NA21485,NA21487,NA21488,NA21489,NA21490,NA21494,NA21509,NA21512,NA21513,NA21517,NA21522,NA21524,NA21525,NA21526,NA21529,NA21573,NA21574,NA21575,NA21577,NA21580,NA21582,NA21583,NA21587,NA21599,NA21600,NA21601,NA21608,NA21613,NA21615,NA21616,NA21617,NA21620,NA21631,NA21632,NA21635,NA21636,NA21647,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21739,NA21740,NA21776 nsv441987 7 70058925 70064077 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv168e180 7 70059956 70077128 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990231,esv1004806 M 3 0 0 "" HuRef nsv824155 7 70060429 70064148 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423488 S 31 1 0 "" NA18999 dgv1115n67 7 70060717 70064148 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824157,nsv824156,nsv824158 M 31 0 5 "" AK18,NA18537,NA18947,NA18951,NA18997 esv1294794 7 70064121 70076815 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600378 S 2 0 0 "" HuRef esv7252 7 70064343 70076854 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29693 S 1 0 0 "" SJK esv6108 7 70070413 70070956 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28549 S 1 0 0 "" SJK esv2372032 7 70085443 70086142 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971987 S 1 0 1 "" NA18507 esv5692 7 70085678 70085925 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28133 S 1 0 1 "" SJK esv1184169 7 70085707 70085942 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025926 S 2 0 1 "" HuRef esv2459873 7 70086463 70087899 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335367 S 1 0 1 "" NA18507 esv1775606 7 70087086 70087199 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615930 S 2 0 1 "" HuRef nsv888342 7 70096245 70170129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599611 S 6533 1 0 "" IS41729 nsv520190 7 70184532 70188207 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697271 S 2026 1 0 "" esv2262487 7 70204809 70205522 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859751 S 1 0 1 "" NA18507 esv6251 7 70205012 70205330 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28692 S 1 0 1 "" SJK esv27189 7 70257846 70262565 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17913 S 451 0 1 WBSCR17 NA19099 nsv888343 7 70279697 70380969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551995 S 6533 0 1 WBSCR17 MS19083 esv274111 7 70306927 70307245 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584423,essv2583301 M 7 2 0 Samples from several populations that are part of the HapMap project. WBSCR17 NA19239,NA19240 esv274007 7 70375873 70376228 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579336,essv2579490 M 7 2 0 Samples from several populations that are part of the HapMap project. WBSCR17 NA19239,NA19240 nsv516049 7 70664399 70918235 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689776,nssv656421,nssv665884 M 2026 3 0 CALN1,WBSCR17 nsv5788 7 70763416 70790668 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3546 S 9 1 0 WBSCR17 NA12878 esv1006919 7 70782709 70784204 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564031 S 3 1 0 WBSCR17 HuRef esv1489524 7 70783030 70783318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3765321 S 2 0 1 WBSCR17 HuRef esv2131076 7 70783542 70783891 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744478 S 1 0 1 WBSCR17 NA18507 esv1136909 7 70783613 70783691 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078998 S 2 0 1 WBSCR17 HuRef esv1521295 7 70840465 70840465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283235 S 2 1 0 "" HuRef nsv366955 7 70840489 70840489 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385533 M 24 "" esv2554482 7 70849062 70851256 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334679 S 1 0 1 "" NA18507 esv998290 7 70849259 70854872 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565808 S 3 0 1 "" HuRef nsv511971 7 70849793 70851491 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624514 S 1 0 1 "" 1 esv3261 7 70849805 70850964 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25702 S 1 0 1 Single Asian sample YH "" YH esv6591 7 70849845 70850899 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29032 S 1 0 1 "" SJK esv1189784 7 70849849 70850906 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987850 S 2 0 1 "" HuRef dgv7321n71 7 71044328 71126769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888344,nsv888345 M 6533 0 2 CALN1 SP51062,SP56085 nsv831023 7 71081485 71225969 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446198 S 95 0 1 CALN1 nsv527501 7 71171836 71188015 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703951 S 2026 0 1 CALN1 nsv831024 7 71207285 71373186 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446199 S 95 0 1 CALN1 esv24358 7 71216715 71217604 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18170 S 451 0 1 CALN1 NA15510 nsv524800 7 71304800 71352038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700792 S 2026 0 1 CALN1 esv1045517 7 71312143 71312231 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327967 S 2 0 1 CALN1 HuRef nsv470299 7 71378394 71453106 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545787 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CALN1 HGDP00716 nsv464556 7 71378394 71455835 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540452 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CALN1 HGDP00716 esv271962 7 71418162 71418247 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518140 S 157 1 0 Samples from several populations that are part of the HapMap project. CALN1 NA12872 nsv428170 7 71421370 71555475 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451056 S 62 0 1 CALN1 NA19189 nsv528974 7 71451596 71476143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705673 S 2026 0 1 CALN1 nsv517305 7 71472868 71476143 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659388,nssv681028,nssv678690,nssv654272 M 2026 0 4 CALN1 dgv2094e1 7 71549406 72016334 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2538,essv2033,essv3103 M 271 0 0 MIR4650-1,MIR4650-2,POM121,SBDSP1,SPDYE7P,TYW1B NA18949,NA18969,NA19003 dgv2095e1 7 71549406 72513834 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv736,esv589 M 271 0 0 BAZ1B,FKBP6,FZD9,GTF2IP1,GTF2IRD2P1,LOC100093631,MIR4650-1,MIR4650-2,NCF1B,NSUN5,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM50,TRIM74,TYW1B NA19003 nsv888346 7 71568393 71648744 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598248 S 6533 0 1 "" IS41172 nsv366857 7 71602732 71602787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385435 M 24 "" nsv888347 7 71620860 71825192 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577018 S 6533 1 0 MIR4650-1,MIR4650-2,TYW1B IS34310 dgv2096e1 7 71620860 71906230 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3608,essv939 M 271 0 0 MIR4650-1,MIR4650-2,TYW1B NA18949,NA18969 dgv7322n71 7 71626267 71961931 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888348,nsv888351,nsv888350,nsv888349,nsv888353,nsv888354 M 6533 7 0 MIR4650-1,MIR4650-2,SBDSP1,TYW1B IS32644,IS33888,IS39243,MS18658,MS20885,SP57469,SP58053 nsv888352 7 71634350 71932320 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552395,nssv1521807,nssv1560315 M 6533 1 2 MIR4650-1,MIR4650-2,TYW1B MS19397,MS24427,SP52593 nsv442053 7 71635141 71951076 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR4650-1,MIR4650-2,SBDSP1,TYW1B dgv1116n67 7 71635398 71971527 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824160,nsv824161,nsv824159 M 31 4 0 MIR4650-1,MIR4650-2,SBDSP1,SPDYE7P,TYW1B AK10,AK12,NA18949,NA18969 esv33871 7 71635625 71946680 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92734 S 51 0 1 MIR4650-1,MIR4650-2,SBDSP1,TYW1B 21944 nsv436901 7 71640903 71962680 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466376 S 2 1 0 Samples from several populations that are part of the HapMap project. MIR4650-1,MIR4650-2,SBDSP1,TYW1B NA18505 dgv231e55 7 71645034 71906230 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34488,esv34202 M 771 2 0 MIR4650-1,MIR4650-2,TYW1B NA18949,NA18969 dgv7323n71 7 71648744 71943607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888359,nsv888355 M 6533 0 2 MIR4650-1,MIR4650-2,SBDSP1,TYW1B IS34510,IS37979 esv1535644 7 71657643 71657643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3591898 S 2 1 0 "" HuRef nsv888356 7 71659407 71784171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563134 S 6533 1 0 TYW1B MS25884 nsv365909 7 71672142 71673163 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384487 M 24 TYW1B nsv5789 7 71674605 71708978 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv646 S 9 1 0 TYW1B NA19240 nsv888357 7 71676124 71807549 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560284 S 6533 0 1 MIR4650-1,MIR4650-2,TYW1B MS24419 nsv8131 7 71680891 71686562 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15032,nssv14994,nssv15966 M 31 0 3 Samples from several populations that are part of the HapMap project. TYW1B NA07029,NA10863,NA18975 dgv821n27 7 71680977 71943607 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464558,nsv464560,nsv464559,nsv464562 M 1557 4 0 MIR4650-1,MIR4650-2,SBDSP1,TYW1B 1780854179_A,1780862592_A,HGDP01277,NINDS_196 nsv520573 7 71680977 72388281 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672719,nssv675188,nssv696688,nssv694046,nssv701501 M 2026 3 2 FKBP6,GTF2IP1,GTF2IRD2P1,LOC100093631,MIR4650-1,MIR4650-2,NCF1B,NSUN5,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM50,TRIM74,TYW1B esv34349 7 71680977 72393456 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978341,essv6978340 M 771 1 0 FKBP6,GTF2IP1,GTF2IRD2P1,LOC100093631,MIR4650-1,MIR4650-2,NCF1B,NSUN5,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM50,TRIM74,TYW1B NA19003 esv25116 7 71682534 71684330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11088 S 451 0 4 TYW1B NA06985,NA12878,NA18907,NA19114 nsv469716 7 71698257 71848801 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649737 M 265 1 0 Samples from several populations that are part of the HapMap project. MIR4650-1,MIR4650-2,TYW1B nsv888358 7 71712086 71908379 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594085 S 6533 1 0 MIR4650-1,MIR4650-2,TYW1B IS39680 nsv470310 7 71734625 71921501 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545798 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4650-1,MIR4650-2,TYW1B HGDP01277 dgv62n64 7 71734626 71921501 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818515,nsv818516 M 112 2 0 MIR4650-1,MIR4650-2,TYW1B NA18949,NA19003 nsv888360 7 71828880 71951080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563135 S 6533 1 0 SBDSP1,TYW1B MS25884 dgv2097e1 7 71833726 72016334 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16117,essv15677,essv16067 M 271 0 0 POM121,SBDSP1,SPDYE7P,TYW1B NA18501,NA18912,NA19100 dgv2098e1 7 71833726 72326866 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9994,essv17974,essv8164,essv16958,essv23901,essv15367,essv16191,essv14797 M 271 0 0 GTF2IP1,GTF2IRD2P1,LOC100093631,NCF1B,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM74,TYW1B NA12003,NA12814,NA18862,NA19099,NA19144,NA19159,NA19161,NA19206 nsv428171 7 71833726 72326866 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451057,nssv451058 M 62 2 0 GTF2IP1,GTF2IRD2P1,LOC100093631,NCF1B,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM74,TYW1B HGDP00449,NA19147 dgv2099e1 7 71833726 72513834 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17211,essv333 M 271 0 0 BAZ1B,FKBP6,FZD9,GTF2IP1,GTF2IRD2P1,LOC100093631,NCF1B,NSUN5,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM50,TRIM74,TYW1B NA18971,NA19171 nsv469793 7 71853112 72016334 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649814 M 265 1 0 Samples from several populations that are part of the HapMap project. POM121,SBDSP1,SPDYE7P,TYW1B nsv5790 7 71890703 71943756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4992,nssv3547,nssv9716,nssv10558,nssv647,nssv2663 M 9 0 6 SBDSP1,TYW1B NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv888361 7 71893279 71951080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504138 S 6533 1 0 SBDSP1,TYW1B SP52234 nsv8132 7 71905191 71914598 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15527 S 31 0 1 Samples from several populations that are part of the HapMap project. TYW1B NA18563 esv2582277 7 71906035 71915617 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231670 S 1 0 1 TYW1B NA18507 esv22305 7 71907404 71913517 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11896,esv16633 M 451 0 24 TYW1B NA06985,NA07037,NA11931,NA11993,NA12004,NA12006,NA12044,NA12749,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19240,NA19257 esv2604938 7 71907442 71914459 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309610 S 1 0 1 TYW1B NA18507 esv2202407 7 71908040 71913959 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700406 S 1 0 1 TYW1B NA18507 nsv499416 7 71908198 71913782 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586026 S 9 0 1 TYW1B nsv366245 7 71908202 71913781 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384823 M 24 TYW1B nsv888362 7 71921501 72492956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592648 S 6533 1 0 BAZ1B,FKBP6,FZD9,GTF2IP1,GTF2IRD2P1,LOC100093631,NCF1B,NSUN5,NSUN5P2,PMS2L2,POM121,SBDSP1,SPDYE7P,SPDYE8P,STAG3L3,TRIM50,TRIM74,TYW1B IS39243 esv23205 7 71941119 71987646 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15261,esv13341,esv18003 M 451 12 0 SBDSP1,SPDYE7P NA12489,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19257 nsv8133 7 71964234 71983022 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17781,nssv18023,nssv16531,nssv17727,nssv14231,nssv14932,nssv15958 M 31 7 0 Samples from several populations that are part of the HapMap project. SPDYE7P NA12872,NA18860,NA18942,NA18972,NA19132,NA19144,NA19240 esv1311182 7 71989481 71989575 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004047 S 2 0 1 POM121 HuRef nsv469664 7 72025972 72128347 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649593 M 265 0 6 Samples from several populations that are part of the HapMap project. NSUN5P2,PMS2L2,POM121,SPDYE8P,STAG3L3,TRIM74 nsv888363 7 72047302 72088533 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600712,nssv1592196 M 6533 1 1 NSUN5P2,POM121,TRIM74 IS39233,IS41919 nsv8134 7 72051145 72053219 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15505,nssv15125,nssv14560,nssv15663,nssv15996,nssv17803,nssv15495,nssv15062 M 31 0 8 Samples from several populations that are part of the HapMap project. POM121 NA07029,NA07048,NA10847,NA10863,NA12802,NA18504,NA18537,NA18980 nsv888364 7 72062991 72088533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584797 S 6533 0 1 NSUN5P2,TRIM74 IS37172 nsv831025 7 72075238 72253944 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446202,nssv1446201,nssv1446200 M 95 0 3 GTF2IP1,LOC100093631,PMS2L2,SPDYE8P,STAG3L3,TRIM74 esv26856 7 72109310 72170461 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17111 S 451 20 0 PMS2L2,SPDYE8P,STAG3L3 NA12044,NA12239,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821246 7 72109310 72171876 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420671 S 1 0 1 PMS2L2,SPDYE8P,STAG3L3 NA10851 nsv8135 7 72114917 72168339 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15410,nssv16018,nssv17787,nssv16561,nssv18810,nssv15517,nssv17622,nssv16568,nssv15988,nssv15856,nssv17811,nssv15535,nssv15380,nssv15122,nssv17817,nssv16591 M 31 9 3 Samples from several populations that are part of the HapMap project. PMS2L2,SPDYE8P NA07029,NA11830,NA12155,NA18502,NA18552,NA18853,NA18860,NA18980,NA19132,NA19144,NA19221,NA19240 nsv509206 7 72124147 72124147 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619487 S 4 1 0 PMS2L2 NA10860 nsv8137 7 72206191 72208429 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15024,nssv15693,nssv14590,nssv18524,nssv17847,nssv16449,nssv15386,nssv15978,nssv15525,nssv15152,nssv18840,nssv17833 M 31 12 0 Samples from several populations that are part of the HapMap project. GTF2IP1,LOC100093631 NA07029,NA07048,NA12740,NA12802,NA18504,NA18517,NA18537,NA18564,NA18975,NA19007,NA19132,NA19221 nsv8138 7 72222084 72224747 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15555,nssv16026 M 31 0 2 Samples from several populations that are part of the HapMap project. GTF2IP1,LOC100093631 NA10863,NA18537 nsv831027 7 72225898 72494332 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446203 S 95 0 1 BAZ1B,FKBP6,FZD9,GTF2IP1,GTF2IRD2P1,LOC100093631,NCF1B,NSUN5,TRIM50 nsv8139 7 72262027 72293425 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18870 S 31 1 0 Samples from several populations that are part of the HapMap project. NCF1B NA19221 nsv8140 7 72349942 72353578 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15585,nssv15723,nssv14620,nssv16056,nssv17863,nssv15182,nssv15155 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA12802,NA18504,NA18537 dgv7324n71 7 72355845 72492956 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888366,nsv888365 M 6533 9 0 BAZ1B,FKBP6,FZD9,NSUN5,TRIM50 MS11097,MS12564,MS12776,MS14933,MS16047,MS18677,MS19652,MS21506,MS24162 esv1684087 7 72426790 72427091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079315 S 2 0 1 "" HuRef esv998241 7 72469404 72470574 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587156 S 3 0 1 "" HuRef dgv7325n71 7 72534486 72788447 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888368,nsv888367 M 6533 0 2 ABHD11,ABHD11-AS1,BAZ1B,BCL7B,DNAJC30,MIR4284,MLXIPL,STX1A,TBL2,VPS37D,WBSCR22 IS37646,IS39233 nsv888369 7 72601669 72658146 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509889 S 6533 0 1 BCL7B,MLXIPL,TBL2 SP54956 nsv831028 7 72608579 72868861 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446204,nssv1446205 M 95 0 2 ABHD11,ABHD11-AS1,BCL7B,CLDN3,DNAJC30,MIR4284,MLXIPL,STX1A,TBL2,VPS37D,WBSCR22 esv1003729 7 72631036 72631036 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585988 S 3 1 0 "" HuRef nsv469841 7 72673447 72822761 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649862 M 265 0 0 Samples from several populations that are part of the HapMap project. ABHD11,ABHD11-AS1,CLDN3,DNAJC30,MIR4284,MLXIPL,STX1A,VPS37D,WBSCR22 nsv888370 7 72689993 72738901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509890 S 6533 0 1 DNAJC30,VPS37D,WBSCR22 SP54956 nsv888371 7 72704893 72816371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546636 S 6533 0 1 ABHD11,ABHD11-AS1,DNAJC30,MIR4284,STX1A,VPS37D,WBSCR22 MS17208 nsv831029 7 72804300 73004883 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446209,nssv1446208,nssv1446210,nssv1446206 M 95 0 4 CLDN3,CLDN4,WBSCR27,WBSCR28 nsv5791 7 72808786 72839840 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4993 S 9 1 0 CLDN3 NA19129 nsv511972 7 72827660 72829525 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624515 S 1 0 1 "" 1 nsv888372 7 72874202 72911297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509891 S 6533 0 1 CLDN4,WBSCR27 SP54956 nsv5792 7 72967169 72996284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8386 S 9 0 1 "" NA12156 nsv509207 7 72975825 73035979 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619488 S 4 1 0 "" NA10860 nsv888373 7 73006386 73090076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570728 S 6533 0 1 ELN IS32322 nsv518455 7 73030539 73054104 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695891 S 2026 0 1 "" nsv888374 7 73043683 73176262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543499 S 6533 0 1 ELN,LIMK1 MS16153 nsv888375 7 73108718 73191971 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530579 S 6533 0 1 ELN,LIMK1 MS10311 nsv824162 7 73121483 73122157 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436723 S 31 1 0 ELN NA18542 esv1010108 7 73148249 73148741 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572560 S 3 0 1 LIMK1 HuRef esv1038833 7 73148250 73148743 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621439 S 2 0 1 LIMK1 HuRef nsv366821 7 73148259 73148751 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385399 M 24 LIMK1 nsv464563 7 73155050 73289972 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540458 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EIF4H,LAT2,LIMK1,MIR590,RFC2 HGDP00791 nsv831030 7 73164043 73302457 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446212,nssv1446211 M 95 2 0 EIF4H,LAT2,LIMK1,MIR590,RFC2 nsv511973 7 73187321 73189305 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624516 S 1 0 1 "" 1 nsv824163 7 73268409 73270062 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432131 S 31 0 1 LAT2 AK20 nsv819656 7 73300084 73306278 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419757 S 2 0 1 RFC2 AK1 nsv831031 7 73335222 73458181 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446221,nssv1446213,nssv1446215,nssv1446220,nssv1446214,nssv1446217,nssv1446216,nssv1446219,nssv1446223,nssv1446222,nssv1446224,nssv1446225,nssv1446227,nssv1446228,nssv1446226,nssv1446230 M 95 0 16 CLIP2 nsv831032 7 73427080 73622973 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446231 S 95 0 1 CLIP2,GTF2IRD1 nsv5793 7 73452525 73495336 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2666 S 9 0 1 CLIP2 NA18555 nsv511378 7 73464629 73468126 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625984 S 1 0 1 "" 1 nsv435857 7 73465267 73469327 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466377 S 2 0 1 "" NA15510 esv2526468 7 73465797 73469968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272818 S 1 0 1 "" NA18507 nsv821074 7 73466355 73469677 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420672 S 1 0 1 "" NA10851 nsv824164 7 73466355 73469677 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426769,nssv1421790,nssv1436724,nssv1423489,nssv1429899,nssv1435178,nssv1430661,nssv1422681,nssv1435938,nssv1425845,nssv1427564,nssv1437510,nssv1429156,nssv1438913,nssv1438234,nssv1425061,nssv1434489 M 31 0 17 "" AK12,AK14,AK16,AK2,AK4,AK6,AK8,NA18542,NA18552,NA18566,NA18570,NA18942,NA18949,NA18951,NA18973,NA18997,NA18999 nsv511974 7 73466369 73469500 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624517 S 1 0 1 "" 1 esv1365498 7 73466431 73469249 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593469 S 2 0 1 "" HuRef esv988166 7 73466521 73470174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565510 S 3 0 1 "" HuRef nsv824166 7 73466822 73467383 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427052,nssv1441150,nssv1440718,nssv1428379,nssv1424293,nssv1432132,nssv1433607,nssv1440433 M 31 0 8 "" AK10,AK20,NA18547,NA18564,NA18582,NA18592,NA18968,NA18969 nsv824167 7 73466822 73469001 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433734,nssv1427434,nssv1431400,nssv1432950,nssv1439753 M 31 0 5 "" AK18,NA18526,NA18537,NA18947,NA18972 esv24164 7 73467042 73469172 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11636,esv16554 M 451 0 24 "" NA06985,NA07045,NA11931,NA12004,NA12006,NA12156,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19129,NA19147,NA19225,NA19240,NA19257 nsv511381 7 73468653 73475451 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625987 S 1 0 1 "" 1 dgv7326n71 7 73472036 73610081 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888376,nsv888377 M 6533 0 2 GTF2IRD1 MS10311,MS16153 nsv888378 7 73500348 73597319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533031 S 6533 1 0 GTF2IRD1 MS10991 nsv831033 7 73510545 73676067 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446232 S 95 0 1 GTF2IRD1 nsv888379 7 73565501 73582121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518420 S 6533 0 1 GTF2IRD1 SP57553 dgv2100e1 7 73632369 74801377 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17134,essv23954,essv416 M 271 0 0 GATSL1,GATSL2,GTF2I,GTF2IP1,GTF2IRD1,GTF2IRD2,GTF2IRD2B,LOC100093631,NCF1,NCF1C,PMS2P5,SPDYE8P,STAG3L2,WBSCR16 NA12814,NA18971,NA19171 esv33268 7 73646904 73653607 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98698 S 51 1 0 GTF2IRD1 21606 nsv517573 7 73758950 73777987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687384,nssv683847,nssv686989,nssv662347,nssv654129,nssv664661,nssv654052,nssv674225,nssv665719,nssv651852,nssv685151,nssv687016,nssv662669 M 2026 0 13 GTF2I nsv888380 7 73758950 73983927 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598737 S 6533 0 1 GTF2I,GTF2IRD2,NCF1,PMS2P5,STAG3L2 IS41317 nsv5794 7 73765604 73801038 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3548 S 9 1 0 GTF2I NA12878 essv21300 7 73784891 74254837 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. GATSL1,GTF2I,GTF2IP1,GTF2IRD2,GTF2IRD2B,LOC100093631,NCF1,NCF1C,PMS2P5,STAG3L2,WBSCR16 NA10855 nsv8141 7 73790311 73793498 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18900 S 31 1 0 Samples from several populations that are part of the HapMap project. GTF2I NA19221 nsv888381 7 73811186 75001105 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592649 S 6533 1 0 GATSL1,GATSL2,GTF2I,GTF2IP1,GTF2IRD2,GTF2IRD2B,HIP1,LOC100093631,LOC541473,NCF1,NCF1C,NSUN5P1,PMS2L2,PMS2P3,PMS2P5,POM121C,SPDYE5,SPDYE8P,STAG3L1,STAG3L2,TRIM73,WBSCR16 IS39243 nsv509208 7 73812242 73881196 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620884 S 4 1 0 GTF2I,GTF2IRD2,NCF1 NA15510 nsv8142 7 73815729 73847123 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18930 S 31 1 0 Samples from several populations that are part of the HapMap project. NCF1 NA19221 nsv482102 7 73826245 73841594 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558463 S 1 1 0 NCF1 KB1 nsv7402 7 73858668 74156247 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6145,nssv6143 M 9 0 0 GATSL1,GTF2IRD2,GTF2IRD2B,PMS2P5,STAG3L2,WBSCR16 NA12156 nsv888382 7 73878109 74093383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541953 S 6533 1 0 GATSL1,GTF2IRD2,PMS2P5,STAG3L2 MS15571 nsv8143 7 73891971 73893922 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14962,nssv15054,nssv15724,nssv15547,nssv15416,nssv18053 M 31 6 0 Samples from several populations that are part of the HapMap project. GTF2IRD2 NA10839,NA11830,NA18942,NA18972,NA18975,NA19007 esv24294 7 73940096 73973516 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12658,esv11977 M 451 16 0 PMS2P5,STAG3L2 NA12044,NA12239,NA12776,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19240,NA19257 nsv482104 7 73944837 73959790 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558465 S 1 1 0 PMS2P5 KB1 nsv8144 7 73945455 73973528 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17841,nssv18143,nssv15577,nssv16048,nssv17652 M 31 4 1 Samples from several populations that are part of the HapMap project. PMS2P5 NA11830,NA18502,NA18860,NA18972,NA19144 nsv510089 7 73951293 73957293 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622137 S 4 0 1 PMS2P5 NA10860 nsv8145 7 74014375 74130453 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15615,nssv16008,nssv17893,nssv17923,nssv15783,nssv16479,nssv18554,nssv16621,nssv15144,nssv18960,nssv16038,nssv14650,nssv14992,nssv15476,nssv15084,nssv15212,nssv17877 M 31 14 0 Samples from several populations that are part of the HapMap project. GATSL1,WBSCR16 NA07029,NA07048,NA12740,NA12802,NA18504,NA18517,NA18537,NA18564,NA18942,NA18975,NA19007,NA19132,NA19221,NA19240 esv1398337 7 74074585 74074585 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042681 S 2 1 0 GATSL1 HuRef esv23295 7 74110266 74111636 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10662 S 451 9 2 WBSCR16 NA07037,NA11894,NA11993,NA12489,NA12749,NA12828,NA12878,NA18858,NA18909,NA19129,NA19240 nsv820906 7 74110266 74112297 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420673 S 1 0 1 WBSCR16 NA10851 nsv528969 7 74127825 76387981 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705668 S 2026 1 0 CCL24,CCL26,DTX2,FDPSL2A,GATSL2,GTF2IP1,GTF2IRD2B,HIP1,HSPB1,LOC100093631,LOC100133091,LOC541473,MDH2,MIR4651,NCF1C,NSUN5P1,PMS2L2,PMS2P3,POM121C,POMZP3,POR,RHBDD2,SNORA14A,SPDYE5,SPDYE8P,SRCRB4D,SRRM3,STAG3L1,STYXL1,TMEM120A,TRIM73,UPK3B,YWHAG,ZP3 nsv831034 7 74151477 74293398 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446235,nssv1446234,nssv1446233 M 95 0 3 GTF2IP1,GTF2IRD2B,LOC100093631,NCF1C nsv8146 7 74158564 74160155 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16651,nssv16068,nssv15174,nssv15022,nssv15607,nssv16289,nssv15506,nssv15784,nssv18173 M 31 9 0 Samples from several populations that are part of the HapMap project. GTF2IRD2B NA10839,NA11830,NA18564,NA18942,NA18972,NA18975,NA19007,NA19173,NA19240 nsv8148 7 74214836 74220659 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18990 S 31 1 0 Samples from several populations that are part of the HapMap project. NCF1C NA19221 nsv8149 7 74227153 74236274 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19020 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19221 nsv428172 7 74236523 75145939 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451068,nssv451073,nssv451069,nssv451070,nssv451066,nssv451067,nssv451065 M 62 7 0 GATSL2,GTF2IP1,HIP1,LOC100093631,LOC541473,NSUN5P1,PMS2L2,PMS2P3,POM121C,SPDYE5,SPDYE8P,STAG3L1,TRIM73 HGDP00449,HGDP00472,HGDP01093,HGDP01094,NA19108,NA19147,NA19257 nsv8150 7 74273553 74276216 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15645,nssv16116 M 31 0 2 Samples from several populations that are part of the HapMap project. GTF2IP1,LOC100093631 NA10863,NA18537 nsv8151 7 74289915 74292150 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15813,nssv15675,nssv14680,nssv17953,nssv15242,nssv15536,nssv16509,nssv18584,nssv16128,nssv15204,nssv17907,nssv19050 M 31 12 0 Samples from several populations that are part of the HapMap project. GTF2IP1,LOC100093631 NA07029,NA07048,NA12740,NA12802,NA18504,NA18517,NA18537,NA18564,NA18975,NA19007,NA19132,NA19221 nsv820756 7 74327845 74353380 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420674 S 1 0 1 "" NA10851 esv28657 7 74331827 74353380 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12443 S 451 13 0 "" NA12239,NA12776,NA18502,NA18505,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19257 dgv2101e1 7 74603661 74801377 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24309,essv12827,essv13690,essv8124,essv17637,essv13085,essv20038,essv13910,essv14082,essv21208,essv15294,essv9819,essv15640,essv11170,essv10277 M 271 0 0 GATSL2,SPDYE8P NA07048,NA10856,NA11830,NA12753,NA18506,NA18852,NA18854,NA18861,NA18862,NA18863,NA18912,NA19119,NA19120,NA19206,NA19211 dgv2102e1 7 74603661 75145939 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3005,essv15561,essv11640,essv10065,essv16955,essv16193,essv16125,essv17932,essv9650,essv23389 M 271 0 0 GATSL2,HIP1,LOC541473,NSUN5P1,PMS2L2,PMS2P3,POM121C,SPDYE5,SPDYE8P,STAG3L1,TRIM73 NA10854,NA12003,NA18913,NA18981,NA19099,NA19100,NA19137,NA19144,NA19154,NA19161 essv14753 7 74603661 76687315 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CCDC146,CCL24,CCL26,DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,FGL2,GATSL2,HIP1,HSPB1,LOC100132832,LOC100133091,LOC541473,MDH2,MIR4651,NSUN5P1,PMS2L2,PMS2P3,POM121C,POMZP3,POR,RHBDD2,SNORA14A,SPDYE5,SPDYE8P,SRCRB4D,SRRM3,STAG3L1,STYXL1,TMEM120A,TRIM73,UPK3B,YWHAG,ZP3 NA19159 esv23669 7 74603685 74612042 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13505,esv9878,esv12156 M 451 18 1 "" NA07037,NA11894,NA11993,NA12239,NA12287,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18511,NA18858,NA18909,NA19114,NA19129,NA19147,NA19225,NA19240 nsv821338 7 74610644 74612042 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420675 S 1 0 1 "" NA10851 nsv821387 7 74725293 74830895 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420676 S 1 0 1 PMS2L2,SPDYE8P,STAG3L1 NA10851 esv25179 7 74742171 74830146 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16839 S 451 21 0 PMS2L2,SPDYE8P,STAG3L1 NA12044,NA12239,NA12414,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv8154 7 74744417 74816711 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15302,nssv18233,nssv15560,nssv16628,nssv16801,nssv17901,nssv16658,nssv15655,nssv15595,nssv18057,nssv19170,nssv16741,nssv17997,nssv16688,nssv15667,nssv15332,nssv15530,nssv16198,nssv17712,nssv18293,nssv19200,nssv15625,nssv15697,nssv18027,nssv16168,nssv15727,nssv16138,nssv19230,nssv18263,nssv16711,nssv15500 M 31 10 2 Samples from several populations that are part of the HapMap project. PMS2L2,SPDYE8P NA07029,NA11830,NA12155,NA18502,NA18853,NA18860,NA18972,NA18980,NA19132,NA19144,NA19221,NA19240 nsv831035 7 74789544 74903501 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446241,nssv1446237,nssv1446239,nssv1446242,nssv1446244,nssv1446243,nssv1446238,nssv1446236 M 95 0 8 LOC541473,NSUN5P1,PMS2L2,POM121C,SPDYE8P,STAG3L1,TRIM73 nsv8155 7 74820120 74825848 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15787 S 31 0 1 Samples from several populations that are part of the HapMap project. PMS2L2 NA11830 nsv8156 7 74887253 74889587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15185,nssv15362,nssv15735,nssv15873,nssv14800,nssv15685,nssv16146,nssv18043 M 31 0 8 Samples from several populations that are part of the HapMap project. POM121C NA07029,NA07048,NA10847,NA10863,NA12802,NA18504,NA18537,NA18980 dgv120n16 7 74907983 76109172 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436543,nsv436550 M 2 0 1 CCL24,CCL26,DTX2,FDPSL2A,HIP1,HSPB1,LOC100133091,MDH2,MIR4651,PMS2P3,POM121C,POMZP3,POR,RHBDD2,SNORA14A,SPDYE5,SRCRB4D,SRRM3,STYXL1,TMEM120A,UPK3B,YWHAG,ZP3 NA18505 nsv511367 7 74920057 74950333 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625971 S 1 0 1 POM121C 1 nsv365453 7 74923343 74923534 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384031 M 24 POM121C esv21917 7 74953470 74982353 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13062,esv14210 M 451 16 0 PMS2P3,POM121C,SPDYE5 NA12489,NA12749,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240,NA19257 nsv8157 7 74958328 74982718 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15817,nssv18147,nssv16831,nssv17772,nssv19260,nssv15082,nssv14261,nssv15715,nssv18323,nssv16228,nssv17931 M 31 10 1 Samples from several populations that are part of the HapMap project. PMS2P3,SPDYE5 NA11830,NA12872,NA18502,NA18860,NA18942,NA18972,NA18980,NA19132,NA19144,NA19221,NA19240 nsv482105 7 74962235 74971564 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558466 S 1 1 0 SPDYE5 KB1 nsv831036 7 74964893 75145939 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446245 S 95 0 1 HIP1,PMS2P3,SPDYE5 nsv471445 7 74975006 74995330 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548296,nssv548298,nssv548297 M 3 PMS2P3 nsv518028 7 75006498 75292388 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695438 S 2026 1 0 CCL24,CCL26,HIP1 nsv523858 7 75011071 75014321 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699693 S 2026 0 1 HIP1 nsv509209 7 75036472 75110730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619490 S 4 1 0 HIP1 NA10860 nsv888383 7 75068328 75142155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589742 S 6533 0 1 HIP1 IS38403 nsv509210 7 75150205 75226693 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619491 S 4 1 0 HIP1 NA10860 esv1647869 7 75151178 75151237 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266438 S 2 0 1 HIP1 HuRef nsv366198 7 75151179 75151237 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384776 M 24 HIP1 nsv888384 7 75167607 75208304 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585128,nssv1551025 M 6533 0 2 HIP1 IS37293,MS18742 nsv464564 7 75167607 75218041 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540459 S 1557 1 0 HIP1 NINDS_147 nsv888385 7 75167607 75265501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539728 S 6533 0 1 CCL26,HIP1 MS14485 nsv528166 7 75185980 75207149 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704715 S 2026 1 0 HIP1 nsv527399 7 75189074 75218041 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703835 S 2026 1 0 HIP1 esv22251 7 75191996 75205991 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20832 S 451 1 0 HIP1 NA12776 esv2421823 7 75192119 75202174 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5140700,essv5095271,essv5094507,essv5047505,essv5144308,essv5012568,essv5075398,essv5096295,essv5008312,essv5064727,essv5034795,essv5081294,essv5103006,essv5064624,essv5102502,essv5067722,essv5042278,essv5023409,essv5149278,essv5106697,essv5094640 M 1184 21 0 HIP1 NA06986,NA06994,NA06997,NA07000,NA07029,NA10835,NA10839,NA11829,NA11830,NA11992,NA12005,NA12249,NA12275,NA12766,NA12776,NA12864,NA12872,NA12873,NA20870,NA20883,NA20908 nsv441991 7 75192119 75202174 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 HIP1 nsv515696 7 75198775 75207149 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659459,nssv686150,nssv699828,nssv704636,nssv651998,nssv660530 M 2026 6 0 HIP1 nsv818517 7 75198775 75208304 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415654,nssv1417041,nssv1417038,nssv1417040,nssv1415655 M 112 5 0 HIP1 NA06994,NA07000,NA07029,NA10835,NA12249 nsv520650 7 75218041 75219498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697537 S 2026 0 1 "" esv23585 7 75246556 75255210 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20498 S 451 0 1 CCL26 NA19108 nsv512913 7 75373504 75374294 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625560 S 1 1 0 "" 1 esv2455300 7 75373936 75374603 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287730 S 1 1 0 "" NA18507 esv1568950 7 75374107 75374107 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3702400 S 2 1 0 "" HuRef dgv2103e1 7 75401785 75640616 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18175,essv13007 M 271 0 0 MDH2,POR,SNORA14A,STYXL1,TMEM120A NA12057,NA18859 nsv428173 7 75401785 75640616 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451109,nssv451101 M 62 2 0 MDH2,POR,SNORA14A,STYXL1,TMEM120A NA18498,NA19181 dgv2104e1 7 75401785 76687315 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12298,essv24789,essv15722,essv9010,essv3888,essv24596,essv15302,essv14511,essv16258,essv19015 M 271 0 0 CCDC146,DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,FGL2,HSPB1,LOC100132832,LOC100133091,MDH2,POMZP3,POR,SNORA14A,SRCRB4D,SRRM3,STYXL1,TMEM120A,UPK3B,YWHAG,ZP3 NA10860,NA11992,NA12005,NA18862,NA18994,NA19131,NA19132,NA19138,NA19161,NA19202 nsv824168 7 75452041 75452717 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429900 S 31 1 0 POR AK14 esv27597 7 75456430 75457582 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16453 S 451 0 1 TMEM120A NA18511 nsv888386 7 75460747 75600555 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574480 S 6533 1 0 MDH2,STYXL1,TMEM120A IS33577 nsv821252 7 75500903 75506800 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420677 S 1 0 1 STYXL1 NA10851 nsv819156 7 75501910 75506230 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419627 S 2 1 0 STYXL1 AK1 esv24008 7 75502182 75505632 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15647,esv12222,esv16971 M 451 34 1 STYXL1 NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv1117n67 7 75503183 75503850 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824169,nsv824170 M 31 3 0 STYXL1 AK4,NA18552,NA18949 dgv2105e1 7 75511690 75640616 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10226,essv6870,essv13517,essv9783 M 271 0 0 MDH2,STYXL1 NA18605,NA18863,NA19152,NA19160 nsv5795 7 75550757 75582081 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10559 S 9 1 0 "" NA18956 nsv524453 7 75593075 75606985 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700386 S 2026 1 0 "" nsv366620 7 75619885 75619940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385198 M 24 "" nsv888387 7 75697462 75904125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546637 S 6533 0 1 HSPB1,SRCRB4D,SRRM3,YWHAG,ZP3 MS17208 nsv888388 7 75721083 75758751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510742 S 6533 0 1 SRRM3 SP54988 nsv519194 7 75737347 75784699 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696678 S 2026 0 1 HSPB1,SRRM3 esv2422494 7 75754153 76451702 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161538 S 181 1 0 DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,HSPB1,LOC100133091,POMZP3,SRCRB4D,SRRM3,UPK3B,YWHAG,ZP3 ND04903 esv2231891 7 75760287 75760684 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646087 S 1 0 1 "" NA18507 nsv5796 7 75761425 75771767 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10560 S 9 1 0 HSPB1 NA18956 nsv428174 7 75772272 76687315 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451112,nssv451129,nssv451127,nssv451128,nssv451132,nssv451111,nssv451126 M 62 7 0 CCDC146,DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,FGL2,LOC100132832,LOC100133091,POMZP3,SRCRB4D,UPK3B,YWHAG,ZP3 HGDP00449,HGDP01093,HGDP01094,NA18498,NA19147,NA19181,NA19257 dgv232e55 7 75841903 76576527 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34657,esv2752178,esv2752184,esv34614,esv34688 M 771 5 0 DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100132832,LOC100133091,POMZP3,SRCRB4D,UPK3B,ZP3 BEC_555,BEC_817,NA18859,NA19131,NA19161 dgv2106e1 7 75847456 76659778 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10003,essv13249,essv14929,essv9813,essv10216,essv6876,essv13534,essv13024,essv17987,essv21360 M 271 0 0 CCDC146,DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100132832,LOC100133091,POMZP3,SRCRB4D,UPK3B,ZP3 NA10860,NA12005,NA18605,NA18859,NA18863,NA19099,NA19131,NA19132,NA19152,NA19160 dgv233e55 7 75850602 76658225 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752179,esv2752182 M 771 0 2 CCDC146,DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100132832,LOC100133091,POMZP3,SRCRB4D,UPK3B,ZP3 BEC_631,BEC_704 nsv7403 7 75868572 76127207 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4994,nssv6146,nssv648 M 9 0 0 DTX2,FDPSL2A,LOC100133091,POMZP3,SRCRB4D,UPK3B,ZP3 NA12156,NA19129,NA19240 dgv2107e1 7 75876089 76550005 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13298,essv200,essv12446,essv14417,essv16367,essv16561,essv22259,essv11317,essv13278,essv8067,essv13954,essv14024 M 271 0 0 DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100132832,LOC100133091,POMZP3,SRCRB4D,UPK3B,ZP3 NA11992,NA18862,NA18863,NA18994,NA19152,NA19160,NA19161,NA19193,NA19201,NA19202 esv2584656 7 75881778 75882234 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211591 S 1 1 0 ZP3 NA18507 dgv234e55 7 75884260 76403686 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35079,esv2752180,esv34358,esv2752181,esv2752183,esv34344,esv34710 M 771 7 0 DTX2,FDPSL2A,LOC100133091,POMZP3,UPK3B,ZP3 BEC_122,BEC_348,NA12005,NA18605,NA18862,NA18863,NA19152 dgv235e55 7 75884260 76403686 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34492,esv34615 M 771 0 2 DTX2,FDPSL2A,LOC100133091,POMZP3,UPK3B,ZP3 BEC_503,NA18994 nsv517634 7 75884260 76475377 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667986,nssv674487,nssv687538,nssv670181,nssv668944,nssv667271,nssv679102,nssv665211,nssv666930,nssv659643,nssv659622,nssv667696,nssv674917,nssv685408,nssv675133,nssv666908,nssv662177,nssv686117,nssv682427,nssv664961,nssv692621,nssv663179,nssv666884,nssv658605,nssv682189,nssv664934,nssv679684,nssv682007,nssv689008,nssv667101,nssv676024,nssv661032,nssv686392,nssv659859,nssv668161,nssv692568,nssv673357,nssv682715,nssv662611,nssv669764,nssv674261,nssv676124,nssv654855,nssv657568,nssv685361,nssv655677,nssv675742,nssv690086,nssv684894,nssv655535,nssv657265,nssv690729,nssv689209,nssv675482,nssv677759,nssv671795,nssv652609,nssv665753,nssv667164,nssv691198,nssv664191,nssv657754,nssv685389,nssv671882,nssv661645,nssv676165,nssv680475,nssv690804,nssv677682,nssv655742,nssv671275,nssv662334,nssv681792,nssv672646,nssv677380,nssv693201,nssv652847,nssv681051,nssv693681,nssv656221 M 2026 76 4 DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100133091,POMZP3,UPK3B,ZP3 esv23516 7 75898835 75982664 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20910 S 451 1 0 DTX2,FDPSL2A,UPK3B,ZP3 NA18907 esv33074 7 75900306 75982653 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98679,essv97219 M 51 2 0 DTX2,FDPSL2A,UPK3B,ZP3 21606,22075 dgv21n31 7 75901115 75972287 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471342,nsv471479 M 3 DTX2,FDPSL2A,ZP3 dgv7327n71 7 75913296 76482989 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888399,nsv888406,nsv888414,nsv888425,nsv888409,nsv888407,nsv888405,nsv888404,nsv888403,nsv888392,nsv888390,nsv888397,nsv888402,nsv888398,nsv888412,nsv888411,nsv888413,nsv888393,nsv888424,nsv888423,nsv888426,nsv888389 M 6533 32 0 DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100133091,POMZP3,UPK3B IS30129,IS30143,IS30171,IS32533,IS34698,IS35179,IS35788,IS36901,IS37393,IS38348,IS40223,IS41433,IS41862,MS10807,MS11218,MS11220,MS11497,MS11703,MS12471,MS14897,MS16286,MS19685,MS21059,MS23566,MS25255,MS25447,SP51352,SP52057,SP52545,SP54311,SP56007,SP58325 nsv888391 7 75922748 76475377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549727 S 6533 0 1 DTX2,DTX2P1-UPK3BP1-PMS2P11,FDPSL2A,LOC100133091,POMZP3,UPK3B MS18276 nsv471446 7 75928908 75973248 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548299,nssv548302,nssv548301 M 3 DTX2,FDPSL2A nsv482106 7 75928908 75973248 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558467 S 1 1 0 DTX2,FDPSL2A KB1 nsv888395 7 75932120 76079152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537449,nssv1589985 M 6533 0 2 DTX2,FDPSL2A,LOC100133091,POMZP3,UPK3B IS38440,MS13211 dgv7328n71 7 75932120 76095009 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888394,nsv888396,nsv888400 M 6533 3 0 DTX2,FDPSL2A,LOC100133091,POMZP3,UPK3B IS30063,IS35573,SP57585 dgv121n16 7 75942350 76519054 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436082,nsv436084,nsv436085 M 2 1 0 DTX2,DTX2P1-UPK3BP1-PMS2P11,LOC100132832,LOC100133091,POMZP3,UPK3B NA15510 nsv8159 7 75948773 75950638 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18644 S 31 0 1 Samples from several populations that are part of the HapMap project. DTX2 NA18517 nsv888401 7 75949874 76095009 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537430,nssv1576238,nssv1578540 M 6533 2 1 DTX2,LOC100133091,POMZP3,UPK3B IS33975,IS34804,MS13206 nsv888408 7 75949930 75999327 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502661,nssv1502520,nssv1517665 M 6533 2 1 DTX2,UPK3B SP51238,SP51309,SP57341 nsv888410 7 75955687 76163746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580627 S 6533 1 0 DTX2,LOC100133091,POMZP3,UPK3B IS35403 nsv888415 7 75959305 75999327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502150 S 6533 1 0 DTX2,UPK3B SP50896 nsv509211 7 75959783 75994365 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619492 S 4 1 0 DTX2,UPK3B NA10860 nsv510964 7 75959783 76022411 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618599 S 4 0 0 DTX2,LOC100133091,UPK3B CHM dgv7329n71 7 75970009 76095009 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888421,nsv888416,nsv888420 M 6533 3 0 DTX2,LOC100133091,POMZP3,UPK3B MS17693,MS19582,SP55569 dgv7330n71 7 75970009 76337248 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888422,nsv888444,nsv888417,nsv888419,nsv888432,nsv888433,nsv888451 M 6533 7 0 DTX2,LOC100133091,POMZP3,UPK3B IS33627,IS38496,IS41848,MS12640,SP50615,SP53528,SP56849 dgv7331n71 7 75970009 76482989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888434,nsv888439,nsv888418 M 6533 0 3 DTX2,DTX2P1-UPK3BP1-PMS2P11,LOC100133091,POMZP3,UPK3B IS39759,SP50061,SP56047 nsv5797 7 75971699 76028269 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv649,nssv4995,nssv6147,nssv11148 M 9 0 4 DTX2,LOC100133091,UPK3B NA12156,NA15510,NA19129,NA19240 dgv63n64 7 75974325 76475377 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818518,nsv818520 M 112 0 3 DTX2P1-UPK3BP1-PMS2P11,LOC100133091,POMZP3,UPK3B NA10860,NA11992,NA18994 nsv482107 7 75977681 75995133 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558468 S 1 1 0 UPK3B KB1 nsv297 7 75980534 76020295 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv297 S 1 0 1 LOC100133091,UPK3B NA15510 esv2577198 7 75981355 76020295 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330237 S 1 0 1 LOC100133091,UPK3B NA18507 nsv8160 7 75982653 76011760 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16861,nssv18133,nssv15805,nssv16258,nssv15886,nssv19290,nssv16891,nssv14291,nssv17991,nssv15745,nssv15847,nssv15814,nssv14830,nssv15903,nssv17961,nssv18353,nssv15142,nssv18674,nssv16718,nssv15294,nssv16218 M 31 7 14 Samples from several populations that are part of the HapMap project. UPK3B NA07048,NA10839,NA11830,NA12155,NA12802,NA12872,NA18504,NA18517,NA18552,NA18564,NA18860,NA18942,NA18972,NA18975,NA18980,NA19144,NA19221,NA19240 dgv1118n67 7 75982679 75985729 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824174,nsv824171,nsv824172,nsv824173 M 31 0 30 UPK3B AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821067 7 75982694 75992039 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420678 S 1 0 1 UPK3B NA10851 nsv499137 7 75982709 75994920 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586027 S 9 0 1 UPK3B esv23975 7 75982794 76535890 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13689,esv20129,esv14774,esv12071,esv15804,esv13371,esv14509,esv17742,esv16550,esv18745,esv12555,esv21045 M 451 24 26 DTX2P1-UPK3BP1-PMS2P11,LOC100132832,LOC100133091,POMZP3,UPK3B NA07037,NA11894,NA11931,NA11995,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv824175 7 75982857 76020805 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423491 S 31 1 0 LOC100133091,UPK3B NA18999 nsv515047 7 75982976 75987592 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627048 S 1414 0 0 UPK3B esv32726 7 75982999 75985552 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98881,essv100730,essv96776,essv95059,essv98255,essv94410,essv95592,essv92936,essv92779,essv98597,essv98045,essv98452,essv94261 M 51 4 9 UPK3B 21606,21656,21659,21721,21772,21808,21841,21939,21944,22085,22259,22352,22394 dgv22n31 7 75985286 76646716 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471336,nsv471338,nsv471536 M 3 CCDC146,DTX2P1-UPK3BP1-PMS2P11,LOC100132832,LOC100133091,POMZP3,UPK3B nsv824177 7 75985329 76189514 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425848 S 31 1 0 LOC100133091,POMZP3,UPK3B AK4 dgv7332n71 7 76009133 76475377 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888448,nsv888455,nsv888442,nsv888427,nsv888429,nsv888443,nsv888435,nsv888438,nsv888437,nsv888449,nsv888450,nsv888452,nsv888453,nsv888428,nsv888436 M 6533 16 0 DTX2P1-UPK3BP1-PMS2P11,LOC100133091,POMZP3 IS31971,IS34409,MS10381,MS11663,MS11746,MS14295,MS17599,MS18847,MS22971,SP50896,SP52568,SP54994,SP56539,SP56724,SP57856,SP80916 dgv7333n71 7 76016453 76076418 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888441,nsv888430 M 6533 0 3 LOC100133091 SP50637,SP55715,SP80988 nsv888431 7 76016453 76092746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508931 S 6533 1 0 LOC100133091,POMZP3 SP54604 nsv888440 7 76016453 76583055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552152 S 6533 1 0 DTX2P1-UPK3BP1-PMS2P11,LOC100132832,LOC100133091,POMZP3 MS19246 esv2421739 7 76017650 76403686 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5092118,essv5097423,essv5078485,essv5025193,essv5043334,essv5133999,essv5056046,essv5088640,essv5140663,essv5110775,essv5157791,essv5154724,essv5131735,essv5036895,essv5016385,essv5025297,essv5036993,essv5087517,essv5084968,essv5140383,essv5108409,essv5160872,essv5139611,essv5068644,essv5112053,essv5108376,essv5145951,essv5120873,essv5073949,essv5023967,essv5024734,essv5025151,essv5048887,essv5071481,essv5108526,essv5158542,essv5029268,essv5056851,essv5004002,essv5146189,essv5126639,essv5043595,essv5087678,essv5109811,essv5086630,essv5051928,essv5005874,essv5129005,essv5132578,essv5103304,essv5114739,essv5065172,essv5079046,essv5089076,essv5106317,essv5043670,essv5123572,essv5004188,essv5038603,essv5040956,essv5017155,essv5115042,essv5096512,essv5139567 M 1184 50 14 LOC100133091,POMZP3 NA11992,NA12005,NA18112,NA18488,NA18497,NA18498,NA18510,NA18605,NA18859,NA18862,NA18863,NA18994,NA19117,NA19131,NA19132,NA19138,NA19146,NA19148,NA19152,NA19159,NA19160,NA19161,NA19174,NA19176,NA19181,NA19183,NA19193,NA19198,NA19199,NA19201,NA19202,NA19226,NA19445,NA19681,NA19683,NA19701,NA19702,NA19835,NA19836,NA20301,NA20333,NA20753,NA20851,NA20895,NA21098,NA21123,NA21295,NA21414,NA21418,NA21423,NA21439,NA21447,NA21479,NA21519,NA21524,NA21525,NA21527,NA21583,NA21587,NA21608,NA21615,NA21650,NA21738,NA21825 dgv64n64 7 76023564 76395148 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818521,nsv818519 M 112 5 0 LOC100133091,POMZP3 NA19138,NA19159,NA19160,NA19161,NA19193 dgv822n27 7 76023564 76475377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464573,nsv464565,nsv464571,nsv464569,nsv464570,nsv464567 M 1557 0 6 DTX2P1-UPK3BP1-PMS2P11,LOC100133091,POMZP3 1780854202_A,1780862078_A,1780862196_A,1780862448_A,HGDP00750,HGDP01241 dgv823n27 7 76023564 76475377 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464568,nsv464566 M 1557 2 0 DTX2P1-UPK3BP1-PMS2P11,LOC100133091,POMZP3 HGDP00913,NINDS_20 nsv470321 7 76023564 76475377 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545921,nssv545865,nssv545843,nssv545887,nssv545821,nssv545909,nssv545976,nssv545832,nssv545876,nssv545854,nssv545898,nssv545987,nssv545965,nssv545810,nssv545954,nssv545943,nssv545932 M 443 17 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DTX2P1-UPK3BP1-PMS2P11,LOC100133091,POMZP3 HGDP00060,HGDP00454,HGDP00458,HGDP00469,HGDP00721,HGDP00891,HGDP00911,HGDP00913,HGDP00917,HGDP00919,HGDP00929,HGDP00933,HGDP00939,HGDP00943,HGDP01030,HGDP01031,HGDP01036 dgv7334n71 7 76038186 76411221 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888446,nsv888454,nsv888445,nsv888447 M 6533 5 6 LOC100133091,POMZP3 IS33605,IS34363,IS38180,MS14978,MS16361,MS16724,MS17335,MS18853,MS24437,MS24792,SP53068 nsv8161 7 76045795 76054781 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17802 S 31 0 1 Samples from several populations that are part of the HapMap project. LOC100133091 NA18502 dgv2108e1 7 76059080 76633111 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13117,essv23341,essv13377,essv11063 M 271 0 0 CCDC146,DTX2P1-UPK3BP1-PMS2P11,LOC100132832,LOC100133091,POMZP3 NA12750,NA18859,NA19138,NA19159 nsv471447 7 76077240 76094556 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548304,nssv548305,nssv548303 M 3 LOC100133091,POMZP3 esv2422423 7 76090751 76210000 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161502 S 181 1 0 LOC100133091,POMZP3 ND02553 nsv888456 7 76095009 76203395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513279 S 6533 0 1 LOC100133091 SP55715 dgv7335n71 7 76095009 76475377 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888458,nsv888465,nsv888457,nsv888459,nsv888461,nsv888471 M 6533 7 0 DTX2P1-UPK3BP1-PMS2P11,LOC100133091 IS33196,MS11821,MS17642,MS23709,SP51309,SP54516,SP81508 nsv510090 7 76097205 76103205 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624036 S 4 0 1 "" NA18994 dgv7336n71 7 76100714 76183045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888462,nsv888460 M 6533 0 2 "" SP51238,SP55019 essv5689 7 76108223 76330986 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18605 nsv437986 7 76112820 76123056 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468909 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18994 dgv7337n71 7 76115070 76394968 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888470,nsv888463,nsv888464 M 6533 3 0 "" IS40883,SP55569,SP57341 dgv7338n71 7 76139117 76394968 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888466,nsv888467 M 6533 0 2 "" SP51102,SP51265 dgv7339n71 7 76139117 76453285 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888473,nsv888472,nsv888468,nsv888480 M 6533 7 5 DTX2P1-UPK3BP1-PMS2P11 IS34358,IS36141,IS38208,IS38411,MS13211,MS20670,MS25498,MS25774,SP51170,SP51292,SP51391,SP57585 nsv437987 7 76139270 76149356 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468910 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA12005 dgv824n27 7 76145002 76284258 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464589,nsv464579,nsv464584,nsv464575,nsv464593,nsv464581,nsv464596,nsv464576,nsv464582,nsv464591,nsv464586,nsv464574,nsv464590,nsv464592,nsv464588,nsv464595,nsv464587,nsv464577,nsv464580,nsv464585,nsv464578 M 1557 21 0 "" HGDP00060,HGDP00454,HGDP00458,HGDP00469,HGDP00526,HGDP00665,HGDP00721,HGDP00733,HGDP00861,HGDP00891,HGDP00911,HGDP00917,HGDP00929,HGDP00933,HGDP00939,HGDP00943,HGDP01030,HGDP01031,HGDP01036,NINDS_191,NINDS_273 nsv888469 7 76147678 76225351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507701 S 6533 1 0 "" SP54604 esv1191010 7 76147841 76147928 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821298 S 2 0 1 "" HuRef nsv441999 7 76163693 76388138 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514426 7 76168016 76386672 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627882 S 1414 0 0 "" esv33529 7 76189484 76442306 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100719,essv99380 M 51 1 1 "" 21656,22335 dgv7340n71 7 76190953 76411221 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888476,nsv888474,nsv888495,nsv888490 M 6533 5 0 "" IS30063,IS33975,MS11087,MS17693,SP54604 nsv888475 7 76203395 76320201 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562169,nssv1599530 M 6533 1 1 "" IS41657,MS25412 dgv7341n71 7 76203395 76411221 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888478,nsv888477,nsv888486,nsv888479,nsv888485,nsv888499 M 6533 11 13 "" IS30332,IS33600,IS35573,IS36612,IS41869,MS10461,MS15802,MS16467,MS17193,MS18368,MS19143,MS22678,MS23787,SP50822,SP51380,SP52365,SP54087,SP54999,SP55394,SP56400,SP56580,SP56769,SP81033,SP81467 dgv7342n71 7 76203395 76475377 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888488,nsv888481,nsv888494,nsv888493,nsv888491 M 6533 5 0 DTX2P1-UPK3BP1-PMS2P11 IS34804,IS35403,IS40130,MS14485,MS19582 dgv7343n71 7 76203395 76482989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888482,nsv888487 M 6533 0 2 DTX2P1-UPK3BP1-PMS2P11 MS13206,SP50633 nsv888483 7 76220257 76320201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586425 S 6533 0 1 "" IS37784 dgv7344n71 7 76220257 76411221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888484,nsv888489,nsv888492 M 6533 0 3 "" IS35169,IS38440,SP55715 nsv510091 7 76230913 76236913 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622138,nssv618264 M 4 0 2 "" CHM,NA10860 nsv824178 7 76243680 76475560 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425849 S 31 1 0 DTX2P1-UPK3BP1-PMS2P11 AK4 nsv888496 7 76246912 76280886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511183 S 6533 0 1 "" SP55019 dgv7345n71 7 76246912 76353179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888497,nsv888498 M 6533 0 2 "" SP51238,SP55027 nsv433481 7 76253372 76259035 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463362 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv2752185 7 76255511 76403686 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983523,essv6988683 M 771 1 0 "" BEC_665 nsv5799 7 76259881 76283545 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9717 S 9 1 0 "" NA18507 dgv7346n71 7 76263324 76337248 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888501,nsv888500 M 6533 0 2 "" SP50637,SP80988 nsv510092 7 76264208 76270208 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618265,nssv621314,nssv624037 M 4 0 3 "" CHM,NA15510,NA18994 nsv888502 7 76267895 76387981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576519 S 6533 1 0 "" IS34083 essv19469 7 76267895 76405958 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12750 nsv437019 7 76268786 76286753 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466900 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10860 nsv526097 7 76270269 76664374 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702345 S 2026 1 0 CCDC146,DTX2P1-UPK3BP1-PMS2P11,FGL2,LOC100132832 dgv7347n71 7 76280886 76467146 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888503,nsv888504,nsv888506 M 6533 3 0 DTX2P1-UPK3BP1-PMS2P11 IS35495,SP53528,SP56849 nsv5800 7 76283125 76297687 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8388 S 9 0 1 "" NA12156 nsv888505 7 76310229 76353179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500507 S 6533 1 0 "" SP50615 esv33336 7 76314773 76461323 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98731 S 51 1 0 DTX2P1-UPK3BP1-PMS2P11 21606 esv990018 7 76322632 76325278 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565725 S 3 0 1 "" HuRef nsv437020 7 76331239 76352523 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466901 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10860 nsv818523 7 76331519 76475377 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415964 S 112 1 0 DTX2P1-UPK3BP1-PMS2P11 NA12750 dgv2109e1 7 76361342 76687315 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16092,essv10062,essv17007,essv8099,essv16006,essv3043,essv13841,essv15707,essv17901 M 271 0 0 CCDC146,DTX2P1-UPK3BP1-PMS2P11,FGL2,LOC100132832 NA12003,NA18501,NA18854,NA18912,NA18981,NA19099,NA19100,NA19144,NA19206 nsv8162 7 76366849 76370319 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15215,nssv15933,nssv15590,nssv16921,nssv14321,nssv16319,nssv16288,nssv16176,nssv15844,nssv16778 M 31 10 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA12155,NA12872,NA18853,NA19144,NA19173,NA19240 nsv8163 7 76383700 76386014 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18021 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv888507 7 76424318 76539536 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513759 S 6533 1 0 DTX2P1-UPK3BP1-PMS2P11,LOC100132832 SP55842 nsv831038 7 76436216 76612039 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446246 S 95 0 1 CCDC146,DTX2P1-UPK3BP1-PMS2P11,LOC100132832 esv5776 7 76464873 76465119 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28217 S 1 0 1 DTX2P1-UPK3BP1-PMS2P11 SJK esv6344 7 76465661 76466228 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28785 S 1 0 1 DTX2P1-UPK3BP1-PMS2P11 SJK esv5293 7 76465731 76466208 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27734 S 1 0 1 Single Asian sample YH DTX2P1-UPK3BP1-PMS2P11 YH nsv5801 7 76470202 76550361 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2667,nssv4996 M 9 0 2 DTX2P1-UPK3BP1-PMS2P11,LOC100132832 NA18555,NA19129 esv34102 7 76471089 76692433 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CCDC146,DTX2P1-UPK3BP1-PMS2P11,FGL2,LOC100132832 nsv8164 7 76474060 76540659 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18383,nssv16951,nssv17832,nssv18177,nssv15877,nssv16808,nssv15392,nssv14351,nssv16318,nssv15620,nssv19320,nssv15835,nssv18051,nssv19350,nssv15907 M 31 12 2 Samples from several populations that are part of the HapMap project. DTX2P1-UPK3BP1-PMS2P11,LOC100132832 NA07029,NA11830,NA12155,NA12872,NA18502,NA18853,NA18860,NA18972,NA18980,NA19132,NA19144,NA19221,NA19240 nsv820936 7 76476432 76511167 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420679 S 1 0 1 DTX2P1-UPK3BP1-PMS2P11,LOC100132832 NA10851 nsv471448 7 76506733 76520291 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548308,nssv548307,nssv548306 M 3 LOC100132832 nsv482108 7 76506733 76520291 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558469 S 1 1 0 LOC100132832 KB1 nsv888508 7 76509752 76664374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581941 S 6533 1 0 CCDC146,FGL2,LOC100132832 IS35768 nsv509212 7 76513435 76513435 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623514 S 4 1 0 LOC100132832 NA18994 nsv508463 7 76518151 76573950 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618815 S 4 0 1 LOC100132832 NA10860 esv1003240 7 76528248 76528248 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577549 S 3 1 0 "" HuRef nsv8165 7 76539982 76546369 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15795,nssv15452 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA18537 nsv365983 7 76540175 76546053 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384561 M 24 "" esv26634 7 76540199 76546088 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18966 S 451 0 3 "" NA11894,NA11993,NA12287 nsv8166 7 76591100 76631653 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18141,nssv19380,nssv15650 M 31 0 3 Samples from several populations that are part of the HapMap project. CCDC146 NA18853,NA18860,NA19221 esv26954 7 76607603 76627034 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11318,esv19991 M 451 0 3 CCDC146 NA11995,NA18907,NA19190 nsv511380 7 76608121 76650390 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625986 S 1 0 1 CCDC146 1 nsv8167 7 76641184 76643977 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15324,nssv18171 M 31 0 2 Samples from several populations that are part of the HapMap project. CCDC146 NA18860,NA18975 esv2504283 7 76716481 76717981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212412 S 1 0 1 CCDC146 NA18507 esv272291 7 76818672 76818924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578897 S 7 1 0 Samples from several populations that are part of the HapMap project. PION NA19239 nsv366800 7 76844512 76844653 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385378 M 24 PION nsv516408 7 76945401 76960124 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668162,nssv682527,nssv668570 M 2026 0 3 "" esv2570418 7 76980035 76981483 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262769 S 1 0 1 "" NA18507 nsv831039 7 77031864 77190140 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446247 S 95 1 0 LOC100505854,PTPN12,RSBN1L esv1494265 7 77032252 77032252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209400 S 2 1 0 PTPN12 HuRef nsv365896 7 77192684 77192684 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384474 M 24 RSBN1L nsv366262 7 77353163 77353871 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384840 M 24 PHTF2 nsv365729 7 77415109 77422095 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384307 M 24 PHTF2 esv2294905 7 77437077 77437525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573054 S 1 0 1 "" NA18507 esv2510507 7 77437248 77437346 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301849 S 1 0 1 "" NA18507 esv274905 7 77549019 77554557 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585186 S 1250 0 1 MAGI2 esv268080 7 77575107 77575192 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516779,essv2518695,essv2514770,essv2517294 M 157 4 0 Samples from several populations that are part of the HapMap project. MAGI2 NA11881,NA12045,NA12234,NA18970 nsv437550 7 77593133 77595040 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467431 S 60 0 1 Samples from several populations that are part of the HapMap project. MAGI2 NA19211 nsv818524 7 77608457 77612423 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417096 S 112 0 1 MAGI2 NA18529 nsv521622 7 77611068 77612423 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698241 S 2026 0 1 MAGI2 nsv5802 7 77658235 77692041 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2765 S 9 1 0 MAGI2 NA18555 esv7615 7 77771523 77771627 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30056 S 1 1 0 MAGI2 SJK nsv519260 7 77782814 77791159 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696753 S 2026 1 0 MAGI2 nsv517924 7 77791159 77792278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695335 S 2026 0 1 MAGI2 esv2407744 7 77797380 77798104 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685579 S 1 0 1 MAGI2 NA18507 esv5222 7 77797513 77797984 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27663 S 1 0 1 Single Asian sample YH MAGI2 YH esv8611 7 77797574 77797900 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31052 S 1 0 1 MAGI2 SJK esv996600 7 77797578 77797901 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574961 S 3 0 1 MAGI2 HuRef esv1783865 7 77797588 77797912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138270 S 2 0 1 MAGI2 HuRef nsv507397 7 77864947 77870947 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617739 S 4 1 0 MAGI2 CHM esv33014 7 77904282 77904735 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99463 S 51 0 1 MAGI2 22335 nsv522955 7 77930661 77933808 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698624 S 2026 0 1 MAGI2 esv2047769 7 77972952 77973399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4523750 S 1 0 1 MAGI2 NA18507 esv271846 7 77984424 77984677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543925,essv2568210,essv2548409,essv2547299,essv2554891,essv2530851,essv2570169,essv2535963,essv2548908,essv2557791 M 157 10 0 Samples from several populations that are part of the HapMap project. MAGI2 NA06986,NA07037,NA10851,NA11992,NA11995,NA12045,NA12717,NA12872,NA12873,NA18593 esv1445467 7 78040497 78040497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020673 S 2 1 0 MAGI2 HuRef nsv888509 7 78145880 78165235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580762 S 6533 0 1 MAGI2 IS35461 esv28012 7 78177182 78177797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20311 S 451 0 1 MAGI2 NA19240 nsv365848 7 78195777 78196116 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384426 M 24 MAGI2 esv9717 7 78195804 78196113 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32158 S 1 0 1 MAGI2 SJK nsv527106 7 78279723 78283344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703486 S 2026 0 1 MAGI2 nsv471642 7 78386256 78555541 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551116,nssv551118,nssv551119,nssv551117,nssv551115 M 48 0 5 MAGI2 JK1061,NA10470,NA10472,NA10494,NA15730 nsv831040 7 78461131 78669934 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446248 S 95 1 0 MAGI2 nsv521257 7 78470425 78500361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697871 S 2026 0 1 MAGI2 nsv5803 7 78476048 78508175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10561 S 9 1 0 MAGI2 NA18956 nsv366172 7 78495516 78495577 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384750 M 24 MAGI2 esv271233 7 78500093 78500441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514632,essv2519272,essv2515713,essv2518995 M 157 4 0 Samples from several populations that are part of the HapMap project. MAGI2 NA11840,NA11894,NA12815,NA19141 esv25735 7 78509600 78512689 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12310 S 451 3 0 MAGI2 NA18511,NA19129,NA19147 nsv5804 7 78511242 78518616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4997 S 9 1 0 MAGI2 NA19129 nsv888510 7 78580312 78703554 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588060 S 6533 1 0 MAGI2 IS38149 nsv5805 7 78614282 78644747 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11149 S 9 1 0 MAGI2 NA15510 nsv5806 7 78618092 78693652 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5000 S 9 0 1 MAGI2 NA19129 nsv888511 7 78622380 78689062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503819 S 6533 0 1 MAGI2 SP52114 dgv131n17 7 78634846 78694640 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437551,nsv437554,nsv437552 M 60 0 3 MAGI2 NA18872,NA19132,NA19173 dgv2110e1 7 78639324 78694943 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10960,essv8569,essv14927,essv14919,essv11333,essv12138,essv14802,essv13393,essv16390 M 271 0 0 MAGI2 NA18870,NA18872,NA19092,NA19128,NA19129,NA19130,NA19132,NA19172,NA19173 dgv2111e1 7 78639324 78725861 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12936,esv1007 M 271 0 0 MAGI2 NA19094 nsv437553 7 78639845 78665072 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467434 S 60 0 1 Samples from several populations that are part of the HapMap project. MAGI2 NA19094 nsv8168 7 78641781 78692450 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16349,nssv18207 M 31 0 2 Samples from several populations that are part of the HapMap project. MAGI2 NA19132,NA19173 nsv499658 7 78641848 78691999 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586028 S 9 0 1 MAGI2 esv25287 7 78641896 78692006 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10934 S 451 0 1 MAGI2 NA19129 nsv514427 7 78642360 78691592 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627883 S 1414 0 1 MAGI2 esv2421751 7 78643235 78690629 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109586,essv5066363,essv5096231,essv5038267,essv5042028,essv5128926,essv5093558,essv5006677,essv5083510,essv5140938,essv5039352,essv5071019,essv5016226,essv5108653,essv5052528,essv5038562,essv5112672 M 1184 0 17 MAGI2 NA18487,NA18519,NA18870,NA18872,NA19094,NA19128,NA19129,NA19130,NA19132,NA19172,NA19173,NA19182,NA19213,NA19215,NA19317,NA19701,NA19702 nsv442003 7 78643235 78690629 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MAGI2 nsv437988 7 78644036 78748910 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468914,nssv468912,nssv468913,nssv468911,nssv468915 M 269 0 4 Samples from several populations that are part of the HapMap project. MAGI2 NA19092,NA19094,NA19130,NA19132 nsv464599 7 78646314 78681225 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540492 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAGI2 HGDP00134 nsv470332 7 78646314 78681225 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545998 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MAGI2 HGDP01413 nsv517007 7 78646314 78681225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686211,nssv678901,nssv693302,nssv692881,nssv653607,nssv689596,nssv675243,nssv680758,nssv665979,nssv653498,nssv671313,nssv665369,nssv655319,nssv651797,nssv672995 M 2026 0 15 MAGI2 nsv818525 7 78646314 78681225 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416558,nssv1418286,nssv1416559,nssv1418287 M 112 0 4 MAGI2 NA19092,NA19094,NA19172,NA19173 nsv433238 7 78646314 78689062 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463119 S 9 0 1 Samples from several populations that are part of the HapMap project. MAGI2 NA19129 nsv888512 7 78656284 80566542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564871 S 6533 0 1 CD36,GNAI1,GNAT3,MAGI2,MAGI2-AS3,SEMA3C IS30311 nsv831041 7 78657435 78811158 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446249,nssv1446250 M 95 1 1 MAGI2 nsv437555 7 78665072 78694640 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467436 S 60 0 1 Samples from several populations that are part of the HapMap project. MAGI2 NA19094 esv2467595 7 78791020 78792402 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202425 S 1 0 1 MAGI2 NA18507 nsv517349 7 78796002 78801709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689597,nssv651799,nssv665159,nssv677269 M 2026 0 4 MAGI2 nsv464600 7 78819655 78868858 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540493 S 1557 0 1 MAGI2 1782681316_A nsv888513 7 78821776 78861440 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515090 S 6533 0 1 MAGI2 SP56120 nsv888514 7 78824996 78899773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532153 S 6533 0 1 MAGI2 MS10727 nsv888515 7 78824996 79059643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567014 S 6533 0 1 MAGI2,MAGI2-AS3 IS31041 esv273828 7 78856913 78857115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578947 S 7 1 0 Samples from several populations that are part of the HapMap project. MAGI2 NA19239 nsv5807 7 78877146 78906781 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5001 S 9 1 0 MAGI2 NA19129 dgv7348n71 7 78924253 79082388 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888517,nsv888516 M 6533 0 2 MAGI2-AS3 IS30635,IS36656 nsv428175 7 78934722 79091309 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451149,nssv451148 M 62 2 0 MAGI2-AS3 HGDP00471,NA19113 nsv888518 7 78987711 79153697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581394 S 6533 0 1 "" IS35572 esv5218 7 79003198 79003734 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27659 S 1 0 1 Single Asian sample YH "" YH nsv464601 7 79012121 79086056 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540494 S 1557 0 1 "" 1780854341_A dgv7349n71 7 79012121 79136275 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888519,nsv888520 M 6533 0 2 "" MS15199,MS25617 nsv818526 7 79018307 79039705 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417837 S 112 0 1 "" NA06985 esv2466860 7 79090087 79095451 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272482 S 1 0 1 "" NA18507 dgv2112e1 7 79099400 79265582 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1340,esv204 M 271 0 0 "" NA19007 nsv464602 7 79153697 79240487 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540495 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00796 esv270779 7 79157147 79157280 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510186,essv2511431,essv2512249,essv2512502,essv2494160,essv2509863,essv2505997,essv2500451,essv2497775,essv2511330,essv2500092,essv2507601,essv2512744,essv2508190,essv2496041,essv2501602,essv2494107,essv2511145,essv2503555,essv2502354,essv2493023,essv2509376,essv2500521,essv2506986,essv2509604,essv2503937,essv2504378 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA10851,NA11920,NA12155,NA18489,NA18502,NA18508,NA18523,NA18537,NA18555,NA18570,NA18573,NA18576,NA18577,NA18579,NA18603,NA18608,NA18871,NA18944,NA18947,NA18948,NA18951,NA18953,NA18956,NA19102,NA19129 nsv8170 7 79168007 79173027 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15557 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv888521 7 79209142 79321416 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517878 S 6533 0 1 "" SP57401 nsv888522 7 79240487 79456948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574352 S 6533 0 1 "" IS33545 esv988423 7 79258438 79258438 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574897 S 3 1 0 "" HuRef esv2507365 7 79291239 79291601 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288328 S 1 0 1 "" NA18507 nsv5808 7 79291568 79340391 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9718,nssv650 M 9 0 2 "" NA18507,NA19240 esv2555507 7 79308459 79321607 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319919 S 1 0 1 "" NA18507 esv2624060 7 79308843 79320251 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220301 S 1 0 1 "" NA18507 esv2410967 7 79309365 79319806 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787564 S 1 0 1 "" NA18507 esv23972 7 79309553 79320812 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11033 S 451 0 9 "" NA18502,NA18511,NA18858,NA18861,NA18907,NA18916,NA19129,NA19240,NA19257 nsv514428 7 79309632 79319376 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627884 S 1414 0 1 "" nsv818527 7 79474618 79525780 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415847 S 112 0 1 "" NA11992 nsv470344 7 79497850 79538939 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546009 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 nsv5810 7 79566221 79598633 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2668 S 9 1 0 "" NA18555 esv2566379 7 79579228 79580853 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259254 S 1 0 1 "" NA18507 esv2344758 7 79579874 79580552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639541 S 1 0 1 "" NA18507 esv3509 7 79579958 79580522 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25950 S 1 0 1 Single Asian sample YH "" YH esv1298585 7 79580026 79580358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303628 S 2 0 1 "" HuRef esv6471 7 79580029 79580366 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28912 S 1 0 1 "" SJK nsv507398 7 79667643 79673643 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617740 S 4 1 0 GNAI1 CHM nsv526091 7 79691383 79692687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702337 S 2026 0 1 "" nsv517963 7 79712403 79725207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694186 S 2026 0 1 "" esv25097 7 79786870 79788297 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20423 S 451 0 1 "" NA19225 nsv528393 7 79802898 79806994 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704983 S 2026 0 1 "" nsv831042 7 79822015 79960248 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446252 S 95 1 0 GNAT3 nsv525104 7 79828965 79840159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701163 S 2026 0 1 "" esv271119 7 79835202 79835287 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515577,essv2515860,essv2517257,essv2513751 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12815,NA12873,NA18970 nsv464603 7 79868537 79902663 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540496 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00634 nsv888523 7 79926528 79980153 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541167,nssv1555273 M 6533 0 2 GNAT3 MS15199,MS21252 nsv888524 7 79945734 80560998 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544750 S 6533 1 0 CD36,GNAT3,SEMA3C MS16467 nsv831043 7 79957350 80160028 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446253 S 95 0 1 CD36,GNAT3 nsv464604 7 79959283 79980153 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540497 S 1557 0 1 GNAT3 NINDS_125 esv3363 7 79964742 79964975 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25804 S 1 0 1 Single Asian sample YH GNAT3 YH nsv365325 7 79964857 79964926 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383903 M 24 GNAT3 nsv888525 7 79986604 80070407 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582266 S 6533 0 1 CD36 IS35895 nsv464606 7 80015020 80149730 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540499 S 1557 1 0 CD36 1780862075_A nsv525704 7 80041654 80073950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701864 S 2026 0 1 CD36 nsv5811 7 80047307 80050811 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3549 S 9 1 0 "" NA12878 nsv888526 7 80078879 80192165 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593870 S 6533 0 1 CD36 IS39532 dgv7350n71 7 80085965 80118053 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888527,nsv888528 M 6533 0 2 CD36 SP52057,SP56143 nsv888529 7 80090454 80133637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513946 S 6533 0 1 CD36 SP55878 dgv7351n71 7 80096500 80120572 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888532,nsv888530,nsv888531 M 6533 0 3 CD36 SP54399,SP56172,SP58007 nsv464607 7 80100766 80126790 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540500 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CD36 HGDP00632 nsv888533 7 80110504 80127701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515766 S 6533 0 1 CD36 SP56267 nsv888534 7 80113391 80117396 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515314 S 6533 0 1 CD36 SP56154 nsv888535 7 80115568 80141286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515905 S 6533 0 1 CD36 SP56307 nsv888536 7 80125294 80135656 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500776 S 6533 1 0 CD36 SP50908 nsv888537 7 80128464 80141286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518217 S 6533 0 1 CD36 SP57472 nsv888538 7 80130385 80135656 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512705,nssv1515375 M 6533 1 1 CD36 SP55596,SP56173 dgv7352n71 7 80130385 80141286 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888543,nsv888546,nsv888539,nsv888545 M 6533 0 5 CD36 SP51058,SP51450,SP52131,SP52717,SP55542 dgv7353n71 7 80130385 80141286 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888541,nsv888540,nsv888544 M 6533 5 11 CD36 SP50081,SP50128,SP50649,SP50753,SP51140,SP51486,SP52094,SP52122,SP52124,SP52719,SP54049,SP54424,SP54635,SP55345,SP55694,SP55996 nsv888542 7 80131852 80138385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513258 S 6533 0 1 CD36 SP55699 nsv888547 7 80133990 80149730 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517496 S 6533 1 0 CD36 SP57292 esv1708068 7 80150377 80150377 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108516 S 2 1 0 "" HuRef esv5461 7 80209351 80209410 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27902 S 1 1 0 "" SJK esv274214 7 80261045 80261395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580423 S 7 1 0 Samples from several populations that are part of the HapMap project. SEMA3C NA12891 esv270195 7 80261077 80261412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575837,essv2526316,essv2544082,essv2531857,essv2548629,essv2576660,essv2554139,essv2520464,essv2547459,essv2553739,essv2559482,essv2528274,essv2520828,essv2539918,essv2549495,essv2560008,essv2528868,essv2567594,essv2568994,essv2533872,essv2566566,essv2534182,essv2524222,essv2537802,essv2524906 M 157 25 0 Samples from several populations that are part of the HapMap project. SEMA3C NA07000,NA07357,NA11830,NA11918,NA11992,NA12006,NA12045,NA12154,NA12287,NA12716,NA12717,NA12763,NA12776,NA12891,NA18498,NA18563,NA18564,NA18570,NA18579,NA18582,NA18861,NA18916,NA18948,NA18959,NA19129 esv2434401 7 80274104 80275600 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265507 S 1 0 1 SEMA3C NA18507 esv3931 7 80316492 80316809 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26372 S 1 0 1 Single Asian sample YH SEMA3C YH nsv888548 7 80391886 80425673 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514026 S 6533 1 0 "" SP55883 nsv888549 7 80391886 80489995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574725 S 6533 0 1 "" IS33616 nsv888550 7 80422324 80482597 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590667 S 6533 0 1 "" IS38549 nsv5812 7 80439214 80483863 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8389 S 9 0 1 "" NA12156 nsv521001 7 80455974 80482597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697730 S 2026 0 1 "" nsv888551 7 80458333 80560998 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526322 S 6533 1 0 "" SP57165 nsv366709 7 80470642 80470642 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385287 M 24 "" esv271535 7 80516603 80516688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515806,essv2519121,essv2518286,essv2519406 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA18969,NA19141,NA19240 esv274466 7 80516603 80516688 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581426,essv2581265 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 dgv7354n71 7 80521244 80604343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888552,nsv888553,nsv888554,nsv888555 M 6533 0 4 "" IS35083,IS39011,IS39119,MS17114 esv2640954 7 80533135 80533665 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359990 S 1 1 0 "" NA18507 nsv512914 7 80533172 80533298 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625561 S 1 1 0 "" 1 esv1710024 7 80533342 80533342 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3669334 S 2 1 0 "" HuRef nsv888556 7 80533764 80635730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593626 S 6533 0 1 "" IS39464 nsv831044 7 80559709 80756527 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446254 S 95 1 0 "" nsv824179 7 80569024 80569828 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423492 S 31 1 0 "" NA18999 esv2548274 7 80639109 80640978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184034 S 1 0 1 "" NA18507 esv1003543 7 80639547 80640101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564942 S 3 0 1 "" HuRef esv8492 7 80639569 80639948 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30933 S 1 0 1 "" SJK esv2461023 7 80639627 80639962 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268167 S 1 0 1 "" NA18507 esv1004606 7 80639631 80639966 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574802 S 3 0 1 "" HuRef esv1644038 7 80639635 80639971 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714405 S 2 0 1 "" HuRef nsv888557 7 80651017 80755084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525989 S 6533 0 1 "" SP56914 esv1994737 7 80675954 80676367 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615101 S 1 0 1 "" NA18507 nsv831045 7 80679629 80850340 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446255 S 95 0 1 "" nsv888558 7 80682603 80755084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597892 S 6533 0 1 "" IS41113 esv2185921 7 80687020 80687441 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699994 S 1 0 1 "" NA18507 nsv464608 7 80704089 80775981 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540501 S 1557 0 1 "" 1780854261_A nsv526500 7 80708315 80718618 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702809 S 2026 1 0 "" nsv888559 7 80708315 80755084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517879 S 6533 0 1 "" SP57401 nsv824180 7 80803166 80803959 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434491,nssv1425065 M 31 2 0 "" AK2,NA18570 nsv888560 7 80832465 80881740 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593525,nssv1583382,nssv1564637 M 6533 3 0 "" IS30270,IS36450,IS39428 esv268007 7 80863458 80863790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518018 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv27288 7 80945171 80951896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21165 S 451 0 1 "" NA19240 nsv888561 7 80967029 81009661 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513194 S 6533 0 1 "" SP55694 nsv5813 7 81104945 81149568 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8390 S 9 0 1 "" NA12156 nsv888562 7 81177240 81196909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515063 S 6533 0 1 HGF SP56119 esv2618632 7 81195746 81197244 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324013 S 1 0 1 HGF NA18507 esv2384607 7 81196080 81196738 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503242 S 1 0 1 HGF NA18507 esv3807 7 81196249 81196631 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26248 S 1 0 1 Single Asian sample YH HGF YH esv8642 7 81196271 81196543 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31083 S 1 0 1 HGF SJK nsv366332 7 81196274 81196547 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384910 M 24 HGF nsv464609 7 81215852 81248852 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540502 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HGF HGDP00952 nsv5814 7 81246364 81276292 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11150 S 9 1 0 "" NA15510 esv2465680 7 81279011 81280625 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263919 S 1 0 1 "" NA18507 nsv511975 7 81279319 81280643 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624518 S 1 0 1 "" 1 esv7823 7 81279391 81280493 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30264 S 1 0 1 "" SJK esv24571 7 81279416 81280521 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14306,esv19862 M 451 9 6 "" NA06985,NA07037,NA12156,NA12239,NA12287,NA12414,NA15510,NA18505,NA18907,NA18909,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820657 7 81279416 81280521 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420681 S 1 0 1 "" NA10851 nsv824181 7 81279416 81280605 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435941,nssv1437513,nssv1427566,nssv1440741,nssv1441153,nssv1424295,nssv1433736,nssv1436726,nssv1438915,nssv1425850,nssv1439755 M 31 0 11 "" AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18566,NA18582,NA18949,NA18969,NA18973 nsv824182 7 81279453 81280282 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427458,nssv1431402,nssv1429903,nssv1433630 M 31 3 1 "" AK14,AK18,NA18592,NA18947 esv997995 7 81279576 81280482 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576799 S 3 0 1 "" HuRef esv1182175 7 81279609 81280516 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768087 S 2 0 1 "" HuRef nsv366187 7 81279624 81280533 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384765 M 24 "" nsv824183 7 81279645 81280282 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421792,nssv1430664,nssv1440435,nssv1429158,nssv1432134,nssv1432953,nssv1425066 M 31 0 7 "" AK12,AK16,AK2,AK20,NA18564,NA18972,NA18997 esv2422065 7 81279747 81280484 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131494,essv5102998,essv5027509,essv5013791,essv5083070,essv5080879,essv5153027,essv5151340,essv5021720,essv5050759,essv5022675,essv5087743,essv5121761,essv5038904,essv5121494,essv5113480,essv5023144,essv5125642,essv5010927,essv5077840,essv5008980,essv5146374,essv5158345,essv5131247,essv5122073,essv5121512,essv5137470,essv5133015,essv5086057,essv5094855,essv5079781,essv5118758,essv5107010,essv5036552,essv5027306,essv5030888,essv5053969,essv5133507,essv5046617,essv5155015,essv5015439,essv5124596,essv5029259,essv5155620,essv5132601,essv5081419,essv5053306,essv5086442,essv5080796,essv5055552,essv5087059,essv5003434,essv5096904,essv5155428,essv5155975,essv5100554,essv5125181,essv5133695,essv5122508,essv5027609,essv5022537,essv5125246,essv5126359,essv5131953,essv5140856,essv5064668,essv5055858,essv5116393,essv5126305,essv5070913,essv5052651,essv5141413,essv5021255,essv5126705,essv5033088,essv5115007,essv5065590,essv5128351,essv5129601,essv5132561,essv5132524,essv5100069,essv5077820,essv5019166,essv5073035,essv5128416,essv5097093,essv5037124,essv5077362,essv5013672,essv5062229,essv5140608,essv5100073,essv5101034,essv5083791,essv5090535,essv5097566,essv5057158,essv5118157,essv5122242,essv5049826,essv5063456,essv5107675,essv5153112,essv5138649,essv5061341,essv5026002,essv5041134,essv5149801,essv5114679,essv5019758,essv5027520,essv5018985,essv5010185,essv5025093,essv5026817,essv5104749,essv5096589,essv5130068,essv5122781,essv5112575,essv5016653,essv5092988,essv5052994,essv5100675,essv5074247,essv5068188,essv5133690,essv5092384,essv5092879,essv5024577,essv5109923,essv5099944,essv5063446,essv5034175,essv5092984,essv5096576,essv5068548,essv5028717,essv5041402,essv5097578,essv5126291,essv5011218,essv5143622,essv5152384,essv5085930,essv5157862,essv5151167,essv5075382,essv5142170,essv5082585,essv5025658,essv5122125,essv5105655,essv5150352,essv5082458,essv5125343,essv5046305,essv5151607,essv5100669,essv5124319,essv5046739,essv5021791,essv5106692,essv5036510,essv5089685,essv5097102,essv5060004,essv5014802,essv5091002,essv5006417,essv5082810,essv5010273,essv5109409,essv5030948,essv5152544,essv5020497,essv5047289,essv5091047,essv5121309,essv5034434,essv5068602,essv5150857,essv5060974,essv5126302,essv5101566,essv5109930,essv5043944,essv5014051,essv5020739,essv5034662,essv5137850,essv5130882,essv5058043,essv5097962,essv5142522,essv5011962,essv5066564,essv5012499,essv5062891,essv5152958,essv5156753,essv5012590,essv5137826,essv5087290,essv5070056,essv5159925,essv5076464,essv5035858,essv5011099,essv5050773,essv5135343,essv5135657,essv5130644,essv5127841,essv5100854,essv5015842,essv5031655,essv5139112,essv5007395,essv5049393,essv5114365,essv5030369,essv5071279,essv5148518,essv5043630,essv5018450,essv5024158,essv5141031,essv5049882,essv5008624,essv5073526,essv5029596,essv5145452,essv5111346,essv5099548,essv5135082,essv5157727,essv5115440,essv5012803,essv5072906,essv5126017,essv5063566,essv5082922,essv5118667,essv5079070,essv5069535,essv5015702,essv5061527,essv5020975,essv5146003,essv5102328,essv5072590,essv5090066,essv5050586,essv5123218,essv5127784,essv5158326,essv5027196,essv5032033,essv5086551,essv5132214,essv5072676,essv5072167,essv5140923,essv5003727,essv5139173,essv5118019,essv5048723,essv5141059,essv5155556,essv5044904,essv5098900,essv5098409,essv5142502,essv5106937,essv5034919,essv5101534,essv5117621,essv5054521,essv5122749,essv5079673,essv5144626,essv5060356,essv5106241,essv5156503,essv5037952,essv5064932,essv5142811,essv5128446,essv5077111,essv5111934,essv5152504,essv5070442,essv5159159,essv5115889,essv5037872,essv5059706,essv5052297,essv5028797,essv5034918,essv5131723,essv5018720,essv5077827,essv5152095,essv5123534,essv5147512,essv5056685,essv5025030,essv5019550,essv5061058,essv5080384,essv5112193,essv5080380,essv5069291,essv5121517,essv5120864,essv5133478,essv5020243,essv5069850,essv5084380,essv5056067,essv5141033,essv5058334,essv5044394,essv5110634,essv5097125,essv5075282,essv5085714,essv5081414,essv5098691,essv5045992,essv5081258,essv5095119,essv5147759,essv5081019,essv5077162,essv5106094,essv5150519,essv5035520,essv5058360,essv5013845,essv5079433,essv5111707,essv5115679,essv5048663,essv5105057,essv5041538,essv5143204,essv5079191,essv5095201,essv5136595,essv5101454,essv5127918,essv5146718,essv5143453,essv5158736,essv5011681,essv5020329,essv5085487,essv5122680,essv5050276,essv5047166,essv5064687,essv5119913,essv5020907,essv5117354,essv5152835,essv5155731,essv5087744,essv5037969,essv5019925,essv5159030,essv5134441,essv5050314,essv5042834,essv5072542,essv5125581,essv5002501,essv5079241,essv5067674,essv5044686,essv5076210,essv5038082,essv5095450,essv5097192,essv5096317,essv5012619,essv5132708,essv5124202,essv5025385,essv5073239,essv5031268,essv5006900,essv5114002,essv5051534,essv5022152,essv5128167,essv5005909,essv5039019,essv5155438,essv5054694,essv5059280,essv5066375,essv5028023,essv5139092,essv5045309,essv5040551,essv5046380,essv5024779,essv5029718,essv5015606,essv5060644,essv5093379,essv5078720,essv5119253,essv5130797,essv5071366,essv5002753,essv5110422,essv5071175,essv5029262,essv5119989,essv5142354,essv5038159,essv5043805,essv5111785,essv5053818,essv5070577,essv5072481,essv5151407,essv5072477,essv5009189,essv5086874,essv5081481,essv5060414,essv5133292,essv5107311,essv5064233,essv5044260,essv5121001,essv5047020,essv5100872,essv5077439,essv5085433,essv5136091,essv5094044,essv5083600,essv5069088,essv5076704,essv5035333,essv5015351,essv5152825,essv5113802,essv5071732,essv5141266,essv5019948,essv5075032,essv5095627,essv5073491,essv5020179,essv5012867,essv5041372,essv5008031,essv5062134,essv5012709,essv5085369,essv5122310,essv5158749,essv5145476,essv5010565,essv5098880,essv5078577,essv5033187,essv5132867,essv5143104,essv5112736,essv5025948,essv5132426,essv5107703,essv5049710,essv5020590,essv5071386,essv5158209,essv5034320,essv5026704,essv5034558,essv5013822,essv5018331,essv5132603,essv5148493,essv5075638,essv5094243,essv5064328,essv5037102,essv5017070,essv5032543,essv5157606,essv5036855,essv5061164,essv5057118,essv5141627,essv5013201,essv5127186,essv5046226,essv5138234,essv5033017,essv5073845,essv5039076,essv5088376,essv5053690,essv5063537,essv5113772,essv5131657,essv5140983,essv5085717,essv5103773,essv5149927,essv5122642,essv5101162,essv5111617,essv5021559,essv5099039,essv5112243,essv5070688,essv5103222,essv5116381,essv5106818,essv5075262,essv5098608,essv5031835,essv5002938,essv5013109,essv5023243,essv5023595,essv5079740,essv5074422,essv5151370,essv5131916,essv5117139,essv5056348,essv5158941,essv5124472,essv5153083,essv5131694,essv5105370,essv5144423,essv5125301,essv5098075,essv5133006,essv5140113,essv5143981,essv5105775,essv5108143,essv5012690,essv5007937,essv5052299,essv5029952,essv5143993,essv5006356,essv5030324,essv5026968,essv5118227,essv5066858,essv5100262,essv5064416,essv5109552,essv5018809,essv5041279,essv5002766,essv5037829,essv5055359,essv5025563,essv5057062,essv5143055,essv5135724,essv5024624,essv5077836,essv5112439,essv5113662,essv5022380,essv5027008,essv5150399,essv5089790,essv5026981,essv5016025,essv5136171,essv5143444,essv5060492,essv5125234,essv5008499,essv5015987,essv5104539,essv5039681,essv5030942,essv5113929,essv5023438,essv5031870,essv5033431,essv5050913,essv5040286,essv5070706,essv5121506,essv5006763,essv5100361,essv5147264,essv5085718,essv5131028,essv5093894,essv5072150,essv5065057,essv5145306,essv5113331,essv5031925,essv5140887,essv5135381,essv5072569,essv5004566,essv5003911,essv5096045,essv5067421,essv5042616,essv5123249,essv5057584,essv5129292,essv5082737,essv5122241,essv5086678,essv5134009,essv5092223,essv5115831,essv5149928,essv5116721,essv5021007,essv5013249,essv5149321,essv5034722,essv5075682,essv5030548,essv5020538,essv5090445,essv5002888,essv5049872,essv5083944,essv5070578,essv5160552,essv5031778,essv5111678,essv5022449,essv5070455,essv5030998,essv5075019,essv5157104,essv5045380,essv5138676,essv5076593,essv5034679,essv5150818,essv5158136,essv5154191,essv5106537,essv5015765,essv5150998,essv5102726,essv5017784,essv5081516,essv5143852,essv5157210,essv5050295,essv5134798,essv5033285,essv5056931,essv5069050,essv5102464,essv5067562,essv5040789,essv5068210,essv5062783,essv5141098,essv5089748,essv5019262,essv5146338,essv5027193,essv5115485,essv5023877,essv5031473,essv5094162,essv5114285,essv5092634,essv5137046,essv5118457,essv5141367,essv5127602,essv5005365,essv5049250,essv5037381,essv5159652,essv5145591,essv5117655,essv5106454,essv5077076,essv5007934,essv5050407,essv5087702,essv5054675,essv5118323,essv5077336,essv5003271,essv5043862,essv5134436,essv5117593,essv5147074,essv5073308,essv5021889,essv5034497,essv5078463,essv5158794,essv5122817,essv5140286,essv5101479,essv5047417,essv5111968,essv5070859,essv5128937,essv5036985,essv5035964,essv5114225,essv5134910,essv5102711,essv5049630,essv5068422,essv5014596,essv5046754,essv5090635,essv5026081,essv5151337,essv5097751,essv5010798,essv5024542,essv5029737,essv5101101,essv5094549,essv5066083,essv5070573,essv5054089,essv5104309,essv5038627,essv5042927,essv5054661,essv5055472,essv5090684,essv5028304,essv5060316,essv5138433,essv5089738,essv5054315,essv5002251,essv5104245,essv5148258,essv5053720,essv5096822,essv5045410,essv5052717,essv5037956,essv5032925,essv5004466,essv5139648,essv5078507,essv5090580,essv5089776,essv5037451,essv5003247,essv5080862,essv5149720,essv5053848,essv5105297,essv5122347,essv5047384,essv5137821 M 1184 0 779 "" NA06986,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07051,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11893,NA11894,NA11917,NA11918,NA11919,NA11930,NA11931,NA11992,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12144,NA12145,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12283,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12748,NA12749,NA12750,NA12751,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12814,NA12815,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12889,NA12891,NA12892,NA17962,NA17965,NA17966,NA17968,NA17969,NA17970,NA17972,NA17974,NA17977,NA17980,NA17981,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18106,NA18107,NA18108,NA18112,NA18114,NA18117,NA18118,NA18120,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18135,NA18136,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18153,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18487,NA18488,NA18507,NA18508,NA18515,NA18516,NA18526,NA18529,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18550,NA18555,NA18557,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18595,NA18597,NA18599,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18702,NA18740,NA18747,NA18748,NA18749,NA18757,NA18855,NA18858,NA18860,NA18867,NA18868,NA18869,NA18871,NA18910,NA18917,NA18924,NA18930,NA18933,NA18934,NA18935,NA18939,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18977,NA18978,NA18979,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19028,NA19035,NA19038,NA19046,NA19054,NA19056,NA19057,NA19059,NA19060,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19087,NA19108,NA19113,NA19114,NA19115,NA19118,NA19119,NA19120,NA19122,NA19123,NA19128,NA19137,NA19139,NA19140,NA19141,NA19144,NA19146,NA19153,NA19154,NA19159,NA19171,NA19172,NA19173,NA19174,NA19178,NA19180,NA19193,NA19194,NA19197,NA19199,NA19200,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19223,NA19226,NA19236,NA19238,NA19239,NA19248,NA19249,NA19307,NA19309,NA19319,NA19321,NA19334,NA19346,NA19347,NA19350,NA19352,NA19371,NA19372,NA19376,NA19382,NA19394,NA19397,NA19429,NA19430,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19446,NA19449,NA19451,NA19456,NA19463,NA19466,NA19467,NA19469,NA19470,NA19471,NA19472,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19700,NA19701,NA19702,NA19703,NA19711,NA19713,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19725,NA19726,NA19727,NA19746,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19774,NA19775,NA19777,NA19778,NA19779,NA19780,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19818,NA19819,NA19828,NA19914,NA19916,NA19918,NA19985,NA20126,NA20276,NA20277,NA20279,NA20282,NA20287,NA20288,NA20292,NA20301,NA20317,NA20319,NA20337,NA20345,NA20348,NA20349,NA20359,NA20502,NA20504,NA20505,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20525,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20758,NA20759,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20812,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20849,NA20851,NA20852,NA20854,NA20856,NA20862,NA20866,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20877,NA20879,NA20882,NA20883,NA20884,NA20885,NA20887,NA20892,NA20894,NA20895,NA20896,NA20898,NA20899,NA20902,NA20907,NA21088,NA21089,NA21091,NA21092,NA21094,NA21098,NA21099,NA21103,NA21104,NA21107,NA21108,NA21109,NA21111,NA21112,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21318,NA21320,NA21333,NA21336,NA21339,NA21344,NA21356,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21367,NA21370,NA21371,NA21378,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21389,NA21390,NA21391,NA21400,NA21401,NA21415,NA21417,NA21418,NA21420,NA21421,NA21424,NA21434,NA21436,NA21440,NA21441,NA21442,NA21451,NA21453,NA21454,NA21455,NA21473,NA21476,NA21478,NA21480,NA21485,NA21486,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21517,NA21519,NA21522,NA21523,NA21525,NA21526,NA21528,NA21573,NA21576,NA21577,NA21578,NA21583,NA21587,NA21597,NA21599,NA21608,NA21611,NA21615,NA21616,NA21617,NA21619,NA21635,NA21636,NA21650,NA21678,NA21682,NA21683,NA21686,NA21689,NA21693,NA21716,NA21717,NA21722,NA21723,NA21733,NA21768,NA21825 nsv888563 7 81286593 81388623 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551334 S 6533 0 1 "" MS18847 nsv528550 7 81399040 81399193 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705163 S 2026 0 1 "" nsv510093 7 81407396 81413396 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624038 S 4 0 1 "" NA18994 esv2214231 7 81428867 81429302 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888240 S 1 0 1 CACNA2D1 NA18507 nsv510094 7 81435130 81441130 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624039,nssv621315,nssv622139 M 4 0 3 CACNA2D1 NA10860,NA15510,NA18994 esv29327 7 81523240 81526944 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16062 S 451 1 0 CACNA2D1 NA18858 nsv888564 7 81546254 81606830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556608 S 6533 0 1 CACNA2D1 MS22104 dgv7355n71 7 81546254 81668399 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888565,nsv888567 M 6533 0 3 CACNA2D1 IS30597,IS33196,IS37226 nsv888566 7 81565714 81618987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554620 S 6533 0 1 CACNA2D1 MS20872 esv4702 7 81566644 81567213 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27143 S 1 0 1 Single Asian sample YH CACNA2D1 YH esv1009997 7 81566670 81567006 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579779 S 3 0 1 CACNA2D1 HuRef esv1301171 7 81566676 81567013 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4056403 S 2 0 1 CACNA2D1 HuRef nsv818528 7 81600112 81623979 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418471 S 112 0 1 CACNA2D1 NA19193 nsv888568 7 81613491 81668399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532671 S 6533 0 1 CACNA2D1 MS10802 nsv5815 7 81614657 81647215 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2669 S 9 1 0 CACNA2D1 NA18555 nsv888569 7 81620533 81639680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576842 S 6533 0 1 CACNA2D1 IS34264 nsv888570 7 81620533 81650932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560778,nssv1554724,nssv1559325 M 6533 0 3 CACNA2D1 MS20947,MS23878,MS24704 esv2655042 7 81626903 81627645 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252722 S 1 1 0 CACNA2D1 NA18507 dgv7356n71 7 81631120 81668399 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888574,nsv888571 M 6533 0 2 CACNA2D1 IS33530,SP57379 dgv7357n71 7 81635133 81662506 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888573,nsv888572,nsv888577 M 6533 0 7 CACNA2D1 IS31306,IS31338,IS33864,IS35236,IS35287,IS38263,MS22104 dgv7358n71 7 81635133 81677489 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888578,nsv888579,nsv888575 M 6533 0 4 CACNA2D1 IS31067,IS31554,IS33533,IS35743 nsv888576 7 81635133 81705987 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579302 S 6533 0 1 CACNA2D1 IS35083 dgv7359n71 7 81642156 81693802 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888580,nsv888581 M 6533 0 2 CACNA2D1 IS36656,MS12266 dgv7360n71 7 81642156 81781871 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888583,nsv888582 M 6533 0 3 CACNA2D1 IS41043,MS11467,MS23670 nsv464610 7 81643593 81668399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540503 S 1557 0 1 CACNA2D1 1782681216_A esv28876 7 81652110 81653114 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20142 S 451 0 1 CACNA2D1 NA18909 nsv888584 7 81668762 81752649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574726 S 6533 0 1 CACNA2D1 IS33616 nsv518794 7 81718632 81730898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696249 S 2026 1 0 CACNA2D1 nsv522458 7 81720845 81735539 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705821 S 2026 1 0 CACNA2D1 nsv888585 7 81730898 81761049 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523903 S 6533 0 1 CACNA2D1 SP54275 nsv888586 7 81749103 81773589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513510 S 6533 0 1 CACNA2D1 SP55791 nsv523665 7 81756007 81761377 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699466 S 2026 0 1 CACNA2D1 nsv5816 7 81756989 81802381 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6148 S 9 0 1 CACNA2D1 NA12156 nsv818529 7 81761049 81764744 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417097,nssv1417424 M 112 0 2 CACNA2D1 NA18529,NA18952 nsv464611 7 81761377 81764744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540504 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA2D1 HGDP00759 esv1010444 7 81793633 81794102 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586942 S 3 1 0 CACNA2D1 HuRef nsv824184 7 81793633 81794102 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434492,nssv1432135,nssv1431403,nssv1427074 M 31 0 4 CACNA2D1 AK18,AK20,NA18570,NA18968 nsv464612 7 81795481 81831196 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540505 S 1557 0 1 CACNA2D1 NINDS_94 esv2752186 7 81795573 82298885 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988697,essv6983665,essv6983664,essv6986489,essv6986488 M 771 1 0 CACNA2D1,PCLO BEC_678 esv270650 7 81839793 81840163 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517540,essv2518434,essv2518057 M 157 3 0 Samples from several populations that are part of the HapMap project. CACNA2D1 NA11918,NA12287,NA12872 nsv524315 7 81872957 82276670 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700217 S 2026 1 0 CACNA2D1,PCLO dgv7361n71 7 81948928 81992590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888587,nsv888588 M 6533 0 6 "" IS33684,IS34407,IS41634,MS10311,MS16153,MS17208 esv5017 7 81999361 82003460 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27458 S 1 0 1 Single Asian sample YH "" YH esv8246 7 81999380 82003410 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30687 S 1 0 1 "" SJK dgv1119n67 7 82001050 82003394 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824186,nsv824185 M 31 0 4 "" AK14,AK18,NA18947,NA18972 esv268987 7 82016709 82017042 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521129,essv2570929,essv2570520,essv2550592,essv2535424,essv2554051,essv2555014,essv2522187,essv2566008,essv2555250,essv2567172,essv2566560,essv2527727,essv2557633,essv2555838,essv2522560,essv2531301,essv2573371,essv2543045,essv2575112,essv2537917,essv2547665 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA11894,NA11993,NA12044,NA12155,NA12249,NA12287,NA12872,NA18571,NA18572,NA18943,NA18947,NA18948,NA18952,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA19102 esv2471157 7 82023135 82024735 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303286 S 1 0 1 "" NA18507 esv274557 7 82130653 82130846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584176,essv2583886 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv831046 7 82133636 82333470 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446257,nssv1446256 M 95 2 0 PCLO nsv5817 7 82257622 82302357 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8391 S 9 0 1 PCLO NA12156 nsv888589 7 82266739 82362599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592561 S 6533 0 1 PCLO IS39243 esv268993 7 82268422 82268763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514200,essv2518029,essv2515948,essv2517733,essv2517187,essv2519464 M 157 6 0 Samples from several populations that are part of the HapMap project. PCLO NA07346,NA12043,NA12872,NA12873,NA12878,NA18970 esv273156 7 82268422 82268763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581277 S 7 1 0 Samples from several populations that are part of the HapMap project. PCLO NA19240 dgv7362n71 7 82335908 82411034 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888590,nsv888592 M 6533 0 2 PCLO IS31338,MS19634 dgv7363n71 7 82335908 82686266 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888593,nsv888591 M 6533 0 2 PCLO MS15199,MS17114 nsv818530 7 82339226 82362599 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416358 S 112 0 1 PCLO NA18855 esv269327 7 82353619 82353974 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499448,essv2510305,essv2493495,essv2495813 M 157 4 0 Samples from several populations that are part of the HapMap project. PCLO NA07000,NA12044,NA12414,NA12763 esv2641869 7 82384899 82386253 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166047 S 1 0 1 PCLO NA18507 nsv824188 7 82406783 82407221 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433737 S 31 0 1 PCLO NA18526 esv269417 7 82449592 82450092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498886 S 157 1 0 Samples from several populations that are part of the HapMap project. PCLO NA19138 nsv519920 7 82490956 82503766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697126 S 2026 0 1 PCLO nsv888594 7 82504643 82584373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565478,nssv1555628 M 6533 0 2 PCLO IS30432,MS21470 esv1579695 7 82505360 82505360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149526 S 2 1 0 PCLO HuRef nsv442054 7 82553896 82555900 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PCLO nsv888595 7 82584373 82641622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593627 S 6533 0 1 PCLO IS39464 dgv7364n71 7 82584373 82681564 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888596,nsv888598,nsv888597 M 6533 0 3 PCLO IS31044,IS31205,MS19634 nsv888599 7 82599186 82698468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574727 S 6533 0 1 PCLO IS33616 nsv464614 7 82609331 82669994 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540506 S 1557 0 1 PCLO NINDS_127 esv1000997 7 82621474 82624779 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565077 S 3 0 1 PCLO HuRef nsv819983 7 82621618 82623451 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419336 S 2 1 0 PCLO AK1 dgv7365n71 7 82621782 82698468 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888601,nsv888602,nsv888600,nsv888603 M 6533 0 7 PCLO IS30635,IS30899,IS31373,IS34645,IS35127,MS13426,MS15036 nsv528771 7 82627858 82628178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705435 S 2026 0 1 PCLO nsv527081 7 82634736 82669994 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703460 S 2026 1 0 "" nsv888604 7 82641622 82686266 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571170 S 6533 0 1 "" IS32615 nsv464615 7 82655320 82680353 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540507 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00909 nsv888605 7 82655320 82686266 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569754 S 6533 0 1 "" IS31703 nsv464618 7 82655320 82695907 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540509 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00933 esv273372 7 82689648 82689965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580160,essv2580301 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv269920 7 82689657 82690002 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516776,essv2515400,essv2516322,essv2518080,essv2516005,essv2517731,essv2516164,essv2513876 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12249,NA12814,NA12872,NA12873,NA12878,NA12891,NA19143 nsv464619 7 82708058 82746813 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540510 S 1557 0 1 "" 1780862088_A nsv527261 7 82716991 82718904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703667 S 2026 0 1 "" nsv365858 7 82748833 82748895 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384436 M 24 "" esv2338329 7 82784205 82784911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865274 S 1 0 1 "" NA18507 esv5265 7 82784291 82784812 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27706 S 1 0 1 Single Asian sample YH "" YH esv8733 7 82784402 82784714 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31174 S 1 0 1 "" SJK esv1225342 7 82784413 82784731 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774557 S 2 0 1 "" HuRef esv269451 7 82785057 82785142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514630,essv2516668,essv2518826,essv2514825,essv2518500,essv2515029,essv2514307,essv2517621,essv2519083,essv2513952,essv2518415 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA12045,NA12234,NA12287,NA12812,NA12874,NA12878,NA19141,NA19143,NA19240 esv273023 7 82785057 82785142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581590 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1667205 7 82785089 82785089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363978 S 2 1 0 "" HuRef nsv824189 7 82856291 82856956 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421795 S 31 1 0 SEMA3E NA18997 esv2519932 7 82856343 82857920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222934 S 1 0 1 SEMA3E NA18507 dgv1120n67 7 82856387 82857615 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824193,nsv824190,nsv824192,nsv824194 M 31 5 0 SEMA3E NA18564,NA18570,NA18947,NA18949,NA18972 nsv821148 7 82856387 82857615 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420682 S 1 0 1 SEMA3E NA10851 nsv824191 7 82856519 82856956 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422685,nssv1427567,nssv1440752,nssv1438236,nssv1436727,nssv1429159,nssv1438916,nssv1433641,nssv1428381,nssv1426771 M 31 10 0 SEMA3E AK10,AK12,AK6,AK8,NA18542,NA18547,NA18552,NA18592,NA18951,NA18973 esv272106 7 82866571 82866656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517212 S 157 1 0 Samples from several populations that are part of the HapMap project. SEMA3E NA18970 nsv511976 7 82887888 82889138 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624519 S 1 0 1 SEMA3E 1 esv27343 7 82888354 82889107 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15084 S 451 0 7 SEMA3E NA11993,NA12006,NA12239,NA12878,NA18502,NA18909,NA19225 esv33579 7 82888647 82888951 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99943 S 51 0 1 SEMA3E 22086 esv1184566 7 82927900 82927900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995185 S 2 1 0 SEMA3E HuRef dgv7366n71 7 82967319 83031305 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888607,nsv888606 M 6533 0 32 SEMA3E IS40023,MS10280,MS10549,MS12003,MS12471,MS13351,MS13487,MS14359,MS15485,MS16055,MS16214,MS16752,MS16921,MS17091,MS17371,MS17808,MS17869,MS18217,MS18824,MS18948,MS20009,MS20211,MS20655,MS21071,MS22952,MS23008,MS23724,MS24624,MS25227,MS25885,MS26100,SP80967 nsv888608 7 82987671 83050721 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562097,nssv1578750,nssv1532258 M 6533 0 3 SEMA3E IS34896,MS10737,MS25373 nsv824195 7 82989411 82990680 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429905 S 31 0 1 SEMA3E AK14 nsv526178 7 82995143 82995703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702439 S 2026 0 1 SEMA3E nsv818531 7 83031305 83046638 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417884 S 112 1 0 SEMA3E NA18852 dgv2113e1 7 83138442 83298048 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18439,esv12 M 271 0 0 "" NA11831 dgv7367n71 7 83145536 83253878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888611,nsv888609,nsv888610 M 6533 0 3 "" IS31205,IS39944,IS40067 dgv7368n71 7 83164744 83246850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888613,nsv888612 M 6533 0 2 "" IS31904,IS40819 dgv7369n71 7 83187643 83253878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888614,nsv888618,nsv888615 M 6533 0 3 "" IS31145,IS33533,MS10802 nsv888616 7 83190363 83246850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584240 S 6533 1 0 "" IS36911 nsv888617 7 83190363 83317311 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569966,nssv1567362,nssv1551782,nssv1566816 M 6533 0 4 "" IS30925,IS31070,IS31758,MS18978 nsv518106 7 83207170 83218968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695519 S 2026 0 1 "" nsv888619 7 83290248 83386968 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504237 S 6533 0 1 "" SP52338 nsv888620 7 83297844 83431741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515828 S 6533 1 0 SEMA3A SP56289 esv269219 7 83315849 83316020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510760,essv2504263,essv2496540,essv2501156,essv2507289,essv2509421,essv2499809 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18510,NA18516,NA18912,NA19129,NA19225 nsv470355 7 83343327 83371890 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546020 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv818532 7 83356996 83364679 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418472 S 112 0 1 "" NA19193 nsv888621 7 83364679 83403962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565804 S 6533 0 1 "" IS30522 nsv888622 7 83364679 83469312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560468 S 6533 1 0 SEMA3A MS24489 esv2254005 7 83374202 83374662 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705838 S 1 0 1 "" NA18507 esv993113 7 83374407 83374473 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568216 S 3 0 1 "" HuRef esv1192625 7 83374408 83374475 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613757 S 2 0 1 "" HuRef esv8742 7 83383477 83383556 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31183 S 1 1 0 "" SJK dgv7370n71 7 83434619 83536113 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888624,nsv888623,nsv888625 M 6533 0 4 SEMA3A IS32615,IS35743,IS36656,IS38065 esv275427 7 83435844 83444618 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585871,essv2585206 M 1250 1 1 SEMA3A dgv7371n71 7 83489790 83546174 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888627,nsv888626 M 6533 0 2 SEMA3A SP55630,SP57314 nsv888628 7 83497513 83560627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567564 S 6533 0 1 SEMA3A IS31118 esv268440 7 83523385 83523470 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517939 S 157 1 0 Samples from several populations that are part of the HapMap project. SEMA3A NA12872 nsv523680 7 83536113 83537669 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699484 S 2026 1 0 SEMA3A nsv527413 7 83536113 83537669 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703851 S 2026 0 1 SEMA3A nsv508464 7 83536875 83552086 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618816 S 4 0 1 SEMA3A NA10860 nsv824196 7 83546213 83547934 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427086 S 31 0 1 SEMA3A NA18968 esv2359570 7 83547617 83548324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518319 S 1 0 1 SEMA3A NA18507 esv3024 7 83547755 83548179 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25465 S 1 0 1 Single Asian sample YH SEMA3A YH esv993949 7 83547801 83548126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582584 S 3 0 1 SEMA3A HuRef esv1617967 7 83547814 83548140 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4286395 S 2 0 1 SEMA3A HuRef esv8729 7 83547816 83548122 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31170 S 1 0 1 SEMA3A SJK esv1729347 7 83553770 83553770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087669 S 2 1 0 SEMA3A HuRef nsv888629 7 83560627 83733961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528360 S 6533 0 1 SEMA3A SP81203 esv994067 7 83587374 83597534 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565529 S 3 0 1 SEMA3A HuRef esv2584536 7 83588392 83589990 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385450 S 1 0 1 SEMA3A NA18507 esv1251085 7 83588893 83589204 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928487 S 2 0 1 SEMA3A HuRef esv2086328 7 83610591 83611010 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908043 S 1 0 1 SEMA3A NA18507 nsv442055 7 83620369 83624624 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SEMA3A nsv519788 7 83620371 83624396 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658631,nssv680637,nssv662223 M 2026 0 3 SEMA3A nsv517852 7 83620371 83632692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694172 S 2026 0 1 SEMA3A nsv514429 7 83620432 83624624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627885 S 1414 0 1 SEMA3A nsv888630 7 83620775 83647047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514434 S 6533 0 1 SEMA3A SP56004 esv989952 7 83634308 83634310 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576389 S 3 1 0 SEMA3A HuRef esv2264355 7 83682176 83682893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797192 S 1 0 1 "" NA18507 esv5876 7 83682246 83682739 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28317 S 1 0 1 "" SJK nsv5818 7 83712904 83757740 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8392 S 9 0 1 "" NA12156 nsv524905 7 83749207 83782442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700916 S 2026 0 1 "" nsv888631 7 83749207 83847941 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556610,nssv1565953 M 6533 0 2 "" IS30539,MS22104 esv1341481 7 83767057 83767057 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291786 S 2 1 0 "" HuRef nsv888632 7 83796372 83831035 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503923 S 6533 0 1 "" SP52131 nsv888633 7 83837329 86554038 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540880 S 6533 1 0 GRM3,KIAA1324L,SEMA3D MS15066 nsv519466 7 83847941 83848896 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696868 S 2026 0 1 "" nsv824197 7 83849728 83850321 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433738 S 31 0 1 "" NA18526 nsv888634 7 83924438 84034194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578888 S 6533 0 1 "" IS34962 dgv7372n71 7 83924438 84182194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888635,nsv888636 M 6533 0 2 "" IS30597,IS31046 esv2483378 7 83946274 83947651 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304182 S 1 0 1 "" NA18507 nsv5819 7 83956923 83990332 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8393 S 9 1 0 "" NA12156 nsv888637 7 83975558 84050944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585177 S 6533 0 1 "" IS37329 dgv7373n71 7 83996116 84182194 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888639,nsv888640,nsv888638 M 6533 0 5 "" IS35911,MS11669,MS12266,MS20361,MS20872 nsv5821 7 83997649 84042404 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8394 S 9 0 1 "" NA12156 dgv7374n71 7 84006551 84291036 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888641,nsv888643 M 6533 0 2 "" IS33533,MS17114 dgv422n21 7 84024095 84183962 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521668,nsv525826 M 2026 0 2 "" esv1000224 7 84027000 84032208 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565284 S 3 0 1 "" HuRef nsv888642 7 84034194 84140813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601115 S 6533 0 1 "" IS41971 esv6412 7 84047707 84047795 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28853 S 1 1 0 "" SJK nsv831047 7 84069874 84246017 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446258 S 95 1 0 "" nsv888644 7 84091626 84223996 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534138 S 6533 0 1 "" MS11467 nsv831049 7 84115535 84313646 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446259 S 95 1 0 "" esv34238 7 84116959 84429902 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980397,essv6980398,essv6987784,essv6989173 M 771 0 1 "" NA10831 esv1653026 7 84158276 84158438 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031283 S 2 0 1 "" HuRef nsv523844 7 84166013 84172434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699677 S 2026 0 1 "" nsv831050 7 84193932 84365197 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446260 S 95 1 0 "" nsv507399 7 84246399 84252399 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623012,nssv620384 M 4 2 0 "" NA15510,NA18994 esv2422324 7 84368226 84782849 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161516 S 181 0 1 SEMA3D ND02760 esv1009514 7 84428358 84428358 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569229 S 3 1 0 "" HuRef nsv366190 7 84428360 84428360 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384768 M 24 "" nsv519125 7 84542383 84633646 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696602 S 2026 0 1 SEMA3D nsv521507 7 84575619 84576431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698124 S 2026 0 1 SEMA3D nsv888645 7 84576431 84680820 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597582 S 6533 0 1 SEMA3D IS41128 nsv888646 7 84592087 84743791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554622 S 6533 0 1 "" MS20872 nsv464621 7 84607589 84633646 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540511 S 1557 0 1 "" 1780854293_A esv2446515 7 84648502 84649917 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360768 S 1 0 1 "" NA18507 nsv5822 7 84668389 84678777 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10563 S 9 1 0 "" NA18956 nsv888647 7 84704244 84928939 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525088 S 6533 0 1 "" SP55498 nsv824199 7 84716985 84723285 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423493 S 31 1 0 "" NA18999 esv2444553 7 84739182 84740263 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226095 S 1 1 0 "" NA18507 esv268027 7 84739642 84739944 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565707,essv2575907,essv2540791,essv2546354,essv2521459,essv2525900,essv2542444,essv2536636,essv2543913,essv2556532,essv2568244,essv2545415,essv2531921,essv2577586,essv2570640,essv2548309,essv2576754,essv2525242,essv2535446,essv2544235,essv2551954,essv2520340,essv2529317,essv2558605,essv2577900,essv2559700,essv2565211,essv2576173,essv2519954,essv2564150,essv2554911,essv2562022,essv2537677,essv2528333,essv2547008,essv2540198,essv2532201,essv2562564,essv2569468,essv2527082,essv2561345,essv2552994,essv2541119,essv2538258,essv2565192,essv2534618,essv2566194,essv2531082,essv2532560,essv2567867,essv2567351,essv2569898,essv2553172,essv2559017,essv2566894,essv2550946,essv2569181,essv2527942,essv2539267,essv2534021,essv2573179,essv2533632,essv2529967,essv2527479,essv2534191,essv2543141,essv2525745,essv2575607,essv2575343,essv2526362,essv2560652,essv2560915,essv2560513,essv2548078,essv2571483,essv2546150,essv2574224,essv2551492,essv2536123,essv2538089,essv2548817,essv2532931,essv2554396,essv2525152,essv2563240,essv2558182 M 157 86 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12154,NA12156,NA12249,NA12414,NA12489,NA12716,NA12749,NA12750,NA12761,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18505,NA18507,NA18508,NA18522,NA18523,NA18542,NA18545,NA18547,NA18558,NA18561,NA18572,NA18573,NA18576,NA18577,NA18582,NA18593,NA18605,NA18638,NA18853,NA18858,NA18861,NA18907,NA18912,NA18916,NA18942,NA18944,NA18949,NA18952,NA18959,NA18965,NA18980,NA19099,NA19102,NA19114,NA19116,NA19137,NA19190,NA19210,NA19238,NA19239,NA19240,NA19257 esv272979 7 84739644 84739924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581868,essv2582823 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv518221 7 84743791 84749737 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695645 S 2026 0 1 "" nsv5823 7 84787794 84822300 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2766 S 9 1 0 "" NA18555 nsv520264 7 84843195 84893602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697314 S 2026 0 1 "" esv272351 7 84851697 84851857 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580872,essv2579407 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv268520 7 84851700 84852055 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510258,essv2495468,essv2511411,essv2495234,essv2513167,essv2503402,essv2507789,essv2503285,essv2494556,essv2504566,essv2507861,essv2511354,essv2494477,essv2512759,essv2508429,essv2507574,essv2505257,essv2493988,essv2511591,essv2503462,essv2505394,essv2503747,essv2502610,essv2505651,essv2506977,essv2499810,essv2512102,essv2498168,essv2502263 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11919,NA11920,NA11992,NA12249,NA12716,NA12751,NA18542,NA18550,NA18563,NA18564,NA18570,NA18572,NA18577,NA18582,NA18638,NA18853,NA18871,NA18940,NA18947,NA18952,NA18960,NA18965,NA19005,NA19102,NA19225,NA19238,NA19240,NA19257 nsv510965 7 84879624 84893373 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624318 S 4 0 0 "" NA18994 esv270956 7 84882644 84884546 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510238,essv2510135,essv2510995,essv2496622,essv2506814,essv2495423,essv2511385,essv2495306,essv2505149,essv2507984,essv2508044,essv2501710,essv2513230,essv2495330,essv2503369,essv2508509,essv2502548,essv2507767,essv2508898,essv2502778,essv2510675,essv2496355,essv2501190,essv2493799,essv2505986,essv2503263,essv2497266,essv2494529,essv2497817,essv2504520,essv2507875,essv2506357,essv2511323,essv2494511,essv2512726,essv2508482,essv2499223,essv2507546,essv2507117,essv2493987,essv2509232,essv2507301,essv2495529,essv2511685,essv2503176,essv2503536,essv2505449,essv2509373,essv2503685,essv2502704,essv2505666,essv2504860,essv2510442,essv2499779,essv2512063,essv2498243,essv2495782,essv2503871,essv2499515 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA10851,NA11829,NA11831,NA11894,NA11918,NA11919,NA11920,NA11992,NA11995,NA12003,NA12045,NA12144,NA12249,NA12287,NA12716,NA12717,NA12750,NA12751,NA12878,NA12892,NA18501,NA18510,NA18516,NA18517,NA18523,NA18542,NA18545,NA18550,NA18555,NA18563,NA18564,NA18566,NA18570,NA18572,NA18577,NA18582,NA18605,NA18638,NA18870,NA18871,NA18909,NA18912,NA18916,NA18940,NA18943,NA18947,NA18952,NA18953,NA18960,NA18965,NA19005,NA19099,NA19172,NA19225,NA19238,NA19240 esv272875 7 84882644 84884609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580178,essv2580006,essv2580519,essv2579533 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 nsv526391 7 84885794 84893602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702690 S 2026 0 1 "" nsv888648 7 84893602 84955668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599969 S 6533 0 1 "" IS41824 nsv521824 7 84928939 84937834 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694596 S 2026 0 1 "" nsv888649 7 84937834 85194709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581395 S 6533 0 1 "" IS35572 nsv888650 7 84976601 85105110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578889 S 6533 0 1 "" IS34962 nsv518864 7 84985696 84986899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696320 S 2026 0 1 "" dgv2114e1 7 84991258 85155978 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4502,esv167 M 271 0 0 "" NA18552 nsv831051 7 84992884 85159852 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446261 S 95 0 1 "" dgv7375n71 7 85003225 85105110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888652,nsv888651 M 6533 0 2 "" IS30824,IS31070 dgv7376n71 7 85003225 85296133 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888653,nsv888660,nsv888661 M 6533 0 3 "" IS30597,IS31044,IS36722 dgv7377n71 7 85016016 85105110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888657,nsv888654,nsv888656,nsv888662,nsv888663 M 6533 0 6 "" IS31302,IS31651,IS39011,IS39718,MS14737,MS18978 dgv7378n71 7 85016016 85420037 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888665,nsv888655 M 6533 0 2 "" IS35911,MS15199 nsv888658 7 85025150 85138310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581843 S 6533 0 1 "" IS35742 dgv7379n71 7 85025150 85219550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888659,nsv888664,nsv888667,nsv888666 M 6533 0 5 "" IS31166,IS31554,IS35771,IS39119,MS12071 nsv470366 7 85032252 85096076 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546032 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 dgv7380n71 7 85141751 85219550 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888668,nsv888669 M 6533 0 2 "" IS30616,IS32150 nsv888670 7 85141751 85296133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579844 S 6533 0 1 "" IS35181 nsv507400 7 85152841 85158841 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617741,nssv621879 M 4 2 0 "" CHM,NA10860 dgv7381n71 7 85181243 85420037 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888673,nsv888671 M 6533 0 2 "" IS39464,MS17114 nsv831052 7 85204468 85344839 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446263 S 95 0 1 "" nsv507401 7 85206140 85212140 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617742 S 4 1 0 "" CHM nsv5824 7 85213335 85246798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2767 S 9 1 0 "" NA18555 nsv518741 7 85219550 85408455 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696191 S 2026 0 1 "" nsv888672 7 85221228 85370565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567959,nssv1568141 M 6533 0 2 "" IS31179,IS31205 esv269833 7 85234808 85234959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512596,essv2494209,essv2504206,essv2501211,essv2493730,essv2505365,essv2500912,essv2493909,essv2504835 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18502,NA18505,NA18516,NA18517,NA18853,NA18856,NA18871,NA19099 nsv525846 7 85256947 85327629 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702039 S 2026 1 0 "" nsv428176 7 85285296 85484496 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451150,nssv451151,nssv451152 M 62 0 3 "" NA19113,NA19181,NA19189 esv23759 7 85327298 85356648 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16150 S 451 4 0 "" NA11995,NA12044,NA18511,NA19240 nsv510095 7 85444918 85450918 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622140 S 4 0 1 "" NA10860 esv25655 7 85447783 85450165 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11400,esv12631 M 451 0 15 "" NA07037,NA12044,NA18505,NA18523,NA18858,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 nsv520114 7 85478348 85492467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697230 S 2026 0 1 "" nsv888674 7 85612485 85776536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598465 S 6533 0 1 "" IS41292 nsv524054 7 85640166 85679629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699920 S 2026 0 1 "" nsv888675 7 85679629 85896696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591035 S 6533 0 1 "" IS38622 esv987636 7 85718888 85723717 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563499 S 3 0 1 "" HuRef nsv470376 7 85749357 85832901 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546043 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00717 esv9543 7 85804044 85804094 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31984 S 1 1 0 "" SJK esv9341 7 85951168 85951241 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31782 S 1 1 0 "" SJK nsv526622 7 86060195 86098752 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702942 S 2026 0 1 "" nsv819490 7 86069304 86083786 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418644 S 2 0 1 "" AK1 esv2421728 7 86072120 86082990 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5014690,essv5050896,essv5033695,essv5147629,essv5085613,essv5051327,essv5087772,essv5090975,essv5072036,essv5011820,essv5080727,essv5024775,essv5007993,essv5033174,essv5044580,essv5046833,essv5013508,essv5142845,essv5096794,essv5126308,essv5013392,essv5150497,essv5035730,essv5072427,essv5056285,essv5065759,essv5130225,essv5080510,essv5026197,essv5087019,essv5149237,essv5034721,essv5028209 M 1184 0 33 "" NA17974,NA18109,NA18118,NA18125,NA18157,NA18542,NA18544,NA18561,NA18582,NA18596,NA18611,NA18628,NA18635,NA18702,NA18747,NA18946,NA18948,NA18949,NA18957,NA18961,NA18963,NA18968,NA18969,NA19010,NA19080,NA19085,NA19681,NA19682,NA19683,NA19684,NA19686,NA19783,NA19788 nsv442014 7 86072821 86082341 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv821302 7 86072920 86079896 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420683 S 1 0 1 "" NA10851 nsv824200 7 86072920 86079896 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424297,nssv1441154,nssv1427568,nssv1436728,nssv1437515,nssv1432136,nssv1428382,nssv1427097 M 31 0 8 "" AK10,AK20,AK8,NA18542,NA18582,NA18949,NA18968,NA18969 nsv515048 7 86073144 86079752 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627049 S 1414 0 0 "" nsv831053 7 86106107 86278935 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446264 S 95 1 0 GRM3 esv7104 7 86114732 86114824 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29545 S 1 1 0 GRM3 SJK nsv824201 7 86125248 86126256 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427495 S 31 0 1 GRM3 NA18947 esv269784 7 86141495 86141828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521195,essv2535123,essv2552088,essv2577897,essv2537466,essv2547043 M 157 6 0 Samples from several populations that are part of the HapMap project. GRM3 NA11894,NA12249,NA12489,NA12761,NA12878,NA12892 esv273882 7 86141502 86141831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584533,essv2583747 M 7 2 0 Samples from several populations that are part of the HapMap project. GRM3 NA19239,NA19240 esv271910 7 86169998 86175424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516135 S 157 1 0 Samples from several populations that are part of the HapMap project. GRM3 NA12873 esv2504097 7 86277074 86278641 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315118 S 1 0 1 GRM3 NA18507 nsv527889 7 86333978 86670539 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704392 S 2026 1 0 C7orf23,DMTF1,KIAA1324L nsv824202 7 86366450 86367211 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428383 S 31 0 1 KIAA1324L AK10 esv270310 7 86379527 86380532 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510731,essv2501469,essv2509597,essv2498941,essv2496959 M 157 5 0 Samples from several populations that are part of the HapMap project. KIAA1324L NA18501,NA19093,NA19129,NA19138,NA19190 nsv5825 7 86426835 86460656 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8395 S 9 1 0 KIAA1324L NA12156 nsv525634 7 86428289 86446722 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701788 S 2026 1 0 KIAA1324L esv998639 7 86452933 86454023 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565765 S 3 0 1 KIAA1324L HuRef esv1677921 7 86453415 86453704 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793433 S 2 0 1 KIAA1324L HuRef nsv8171 7 86501948 86520384 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15963,nssv16379 M 31 2 0 Samples from several populations that are part of the HapMap project. KIAA1324L NA07048,NA19173 nsv5826 7 86578438 86612667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8396 S 9 1 0 "" NA12156 nsv8172 7 86585677 86587870 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18413,nssv15354,nssv16981 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18972,NA18975,NA19240 nsv888676 7 86619359 86696760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519372 S 6533 1 0 C7orf23,DMTF1 SP81010 nsv888677 7 86639961 87619047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540881 S 6533 1 0 ABCB1,ABCB4,ADAM22,C7orf23,CROT,DBF4,DMTF1,RUNDC3B,SLC25A40,TP53TG1 MS15066 nsv464622 7 86670539 87379184 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540512 S 1557 1 0 ABCB1,ABCB4,C7orf23,CROT,DBF4,RUNDC3B,SLC25A40,TP53TG1 1780854357_A nsv511977 7 86672559 86675168 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624520 S 1 0 1 C7orf23 1 esv2141131 7 86674364 86675064 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876153 S 1 0 1 C7orf23 NA18507 esv5173 7 86674459 86674964 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27614 S 1 0 1 Single Asian sample YH C7orf23 YH esv995303 7 86674551 86674859 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575549 S 3 0 1 C7orf23 HuRef dgv234n6 7 86674551 86674874 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv365994,nsv366774 M 24 C7orf23 esv9011 7 86674565 86674854 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31452 S 1 0 1 C7orf23 SJK nsv428177 7 86695489 86872103 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451156,nssv451155,nssv451158,nssv451160,nssv451162,nssv451161,nssv451154,nssv451159,nssv451157 M 62 0 9 ABCB4,CROT,TP53TG1 HGDP00449,HGDP00450,HGDP00471,HGDP00473,HGDP00986,HGDP01093,NA19108,NA19189,NA19257 nsv888678 7 86770021 86939343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553352 S 6533 0 1 ABCB4,CROT,TP53TG1 MS19941 esv272256 7 86806401 86806744 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578886 S 7 1 0 Samples from several populations that are part of the HapMap project. TP53TG1 NA19239 esv269158 7 86806426 86806758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565892,essv2554913,essv2520886,essv2557277,essv2556951,essv2532189,essv2569409,essv2539053,essv2569660,essv2561339,essv2551096,essv2539355,essv2560740,essv2524120,essv2574578,essv2549893,essv2546083 M 157 17 0 Samples from several populations that are part of the HapMap project. TP53TG1 NA11829,NA12872,NA18498,NA18499,NA18501,NA18505,NA18508,NA18519,NA18520,NA18523,NA18858,NA18912,NA19116,NA19129,NA19138,NA19225,NA19239 esv270404 7 86818743 86818828 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519014 S 157 1 0 Samples from several populations that are part of the HapMap project. CROT NA19141 esv259427 7 86847396 86847747 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394175,essv2393920,essv2393851,essv2393653,essv2394063,essv2394300 M 6 0 0 Samples from several populations that are part of the HapMap project. CROT NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259930 7 86847405 86847755 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396754,essv2400214,essv2400029,essv2394770,essv2398576,essv2399084,essv2400339,essv2398497,essv2401162,essv2397528,essv2400875,essv2398907,essv2395755,essv2396225,essv2400563,essv2397572,essv2398070,essv2400289,essv2399977,essv2396653,essv2398647,essv2400773,essv2395416,essv2396685,essv2397977,essv2399610,essv2399185,essv2397268,essv2401077,essv2396915,essv2395239,essv2397650,essv2396473,essv2395031,essv2396635,essv2394950,essv2400967,essv2398407,essv2396331,essv2398539,essv2400866,essv2397421,essv2399586,essv2395069,essv2399837,essv2396876,essv2398852,essv2396832,essv2399480,essv2400127,essv2394632,essv2397891,essv2398254,essv2400666,essv2396173,essv2395869,essv2397501,essv2395445,essv2398168,essv2397133,essv2400803,essv2395123,essv2397732,essv2394552,essv2397007,essv2397373,essv2398744,essv2395178,essv2399511,essv2396442,essv2397996,essv2396007,essv2397083,essv2400461 M 144 0 0 Samples from several populations that are part of the HapMap project. CROT NA07000,NA07037,NA07051,NA07357,NA10847,NA10851,NA11881,NA11894,NA11931,NA11992,NA11993,NA11995,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12156,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12878,NA12891,NA12892,NA18499,NA18502,NA18517,NA18519,NA18526,NA18545,NA18547,NA18552,NA18558,NA18562,NA18564,NA18566,NA18570,NA18571,NA18573,NA18579,NA18582,NA18638,NA18858,NA18861,NA18870,NA18907,NA18909,NA18912,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18965,NA18973,NA18980,NA19005,NA19108,NA19137,NA19138,NA19147,NA19238,NA19239,NA19240 esv992601 7 86847496 86847496 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569697 S 3 1 0 CROT HuRef nsv366901 7 86847498 86847498 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385479 M 24 CROT nsv464623 7 86878565 86977252 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540513 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCB1,ABCB4 HGDP00807 dgv7382n71 7 86895635 86941199 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888680,nsv888679,nsv888681,nsv888682 M 6533 0 4 ABCB4 IS30700,IS38207,MS20813,MS22677 dgv7383n71 7 86912900 86943731 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888685,nsv888688,nsv888687,nsv888684,nsv888683 M 6533 0 10 ABCB4 IS33738,IS35862,IS41866,IS41898,MS10203,MS18843,MS20041,MS22797,MS25963,SP81335 nsv523246 7 86914523 86915932 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698975 S 2026 0 1 ABCB4 nsv888686 7 86914523 86930056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533247 S 6533 0 1 ABCB4 MS11061 nsv888689 7 86931183 86947953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509892,nssv1511383 M 6533 0 2 ABCB4 SP54956,SP55021 nsv888690 7 86931183 86960783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596370,nssv1530582,nssv1548390 M 6533 0 3 ABCB4 IS40502,MS10311,MS17825 nsv888691 7 86979750 86994987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519772 S 6533 1 0 ABCB1 SP50544 nsv888692 7 87139306 87169901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518218 S 6533 0 1 ABCB1,RUNDC3B SP57472 esv7655 7 87146261 87149081 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30096 S 1 0 1 ABCB1,RUNDC3B SJK esv28195 7 87146297 87148760 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12329 S 451 0 1 ABCB1,RUNDC3B NA19225 dgv7384n71 7 87153858 87169901 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888694,nsv888693 M 6533 0 2 ABCB1,RUNDC3B SP50649,SP54490 nsv888695 7 87166438 87268605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515064 S 6533 0 1 ABCB1,RUNDC3B SP56119 nsv528078 7 87235281 87256797 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704614 S 2026 0 1 RUNDC3B nsv888696 7 87364880 87432124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574397 S 6533 0 1 ADAM22,DBF4 IS33553 nsv525073 7 87373032 87650904 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701127 S 2026 1 0 ADAM22,DBF4 nsv529001 7 87379184 87402213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705707 S 2026 0 1 ADAM22 nsv517676 7 87441679 87444182 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670129,nssv662368,nssv675994,nssv683500,nssv680205,nssv663311,nssv675683,nssv663820,nssv683153,nssv652791 M 2026 0 10 ADAM22 nsv437021 7 87504602 87512607 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466902 S 60 0 1 Samples from several populations that are part of the HapMap project. ADAM22 NA10835 esv29888 7 87506762 87510806 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15186 S 451 0 1 ADAM22 NA12156 esv2421625 7 87508675 87510328 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013127,essv5045162,essv5093259,essv5091680,essv5154041,essv5149478,essv5096420,essv5132055,essv5151995,essv5073663,essv5125856,essv5127189,essv5042696 M 1184 0 13 ADAM22 NA06984,NA10831,NA10835,NA10863,NA12156,NA12234,NA12248,NA12342,NA12400,NA12818,NA12829,NA12890,NA20792 nsv442056 7 87508675 87510328 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ADAM22 nsv514430 7 87508720 87510152 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627886 S 1414 0 1 ADAM22 esv2486343 7 87577796 87578672 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311624 S 1 1 0 ADAM22 NA18507 esv26468 7 87702352 87707766 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17179 S 451 0 4 "" NA18508,NA18916,NA19114,NA19190 nsv5827 7 87778409 87816144 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8397 S 9 0 1 "" NA12156 esv4744 7 87869009 87869357 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27185 S 1 0 1 Single Asian sample YH "" YH esv2576691 7 87906123 87907634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339804 S 1 0 1 "" NA18507 esv1639941 7 87906981 87907182 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4189278 S 2 0 1 "" HuRef esv2514000 7 87911108 87911761 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248112 S 1 1 0 "" NA18507 nsv512915 7 87911352 87913018 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625562 S 1 1 0 "" 1 dgv2115e1 7 87924965 88167305 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv688,essv15596 M 271 0 0 "" NA19137 esv2614559 7 87928731 87930525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282475 S 1 0 1 "" NA18507 esv2068278 7 87929047 87929783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621988 S 1 0 1 "" NA18507 esv2755 7 87929197 87929737 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25196 S 1 0 1 Single Asian sample YH "" YH nsv366501 7 87929236 87929685 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385079 M 24 "" esv5746 7 87929245 87929684 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28187 S 1 0 1 "" SJK esv270624 7 87930167 87930722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514890 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 nsv5828 7 87934154 87967894 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8398 S 9 1 0 "" NA12156 nsv522235 7 87940681 87986401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695013 S 2026 0 1 "" nsv470377 7 87974520 88092199 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546054 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00918 nsv818534 7 87974520 88092199 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416945 S 112 0 1 "" NA19137 esv34595 7 87974867 88092199 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980855,essv6987864,essv6980854 M 771 0 1 "" NA19137 essv9270 7 87974867 88101138 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19137 nsv464625 7 87979911 88092199 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540514 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00918 nsv515995 7 87986401 89347872 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656682,nssv695014,nssv678833,nssv699983,nssv705622,nssv701076,nssv657359,nssv665637,nssv699963,nssv705765,nssv697246,nssv699413,nssv693176,nssv706123,nssv677430,nssv682035,nssv695317,nssv700639 M 2026 5 13 C7orf62,ZNF804B esv2752187 7 88013461 88485922 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988887,essv6987145,essv6985066,essv6985067,essv6987146 M 771 1 0 C7orf62,ZNF804B BEC_9 esv2752188 7 88013461 89722685 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985286,essv6987203,essv6987202,essv6987201,essv6988914,essv6985282,essv6985283,essv6985284,essv6985285 M 771 1 0 C7orf62,C7orf63,DPY19L2P4,STEAP1,STEAP2,ZNF804B SPC_136 nsv831054 7 88060109 88255618 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446265 S 95 1 0 ZNF804B esv259770 7 88076075 88077267 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395575,essv2399234,essv2400634,essv2399460,essv2394662,essv2397933,essv2395685,essv2398699,essv2399664 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18510,NA18858,NA18870,NA18907,NA19116,NA19190,NA19210 esv2502218 7 88121335 88122769 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187504 S 1 0 1 "" NA18507 nsv888697 7 88121762 88247949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538086 S 6533 0 1 ZNF804B MS13480 esv2485715 7 88126985 88128426 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351699 S 1 0 1 "" NA18507 nsv464626 7 88162356 89721065 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540515 S 1557 1 0 C7orf62,C7orf63,DPY19L2P4,STEAP1,STEAP2,ZNF804B 1780854574_A dgv7385n71 7 88187157 88254472 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888699,nsv888698,nsv888700 M 6533 0 3 ZNF804B IS34264,MS24704,SP58502 esv273280 7 88218256 88218587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581819,essv2582586,essv2582851,essv2584369,essv2584609,essv2583521 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv271230 7 88218258 88218589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575870,essv2540901,essv2525929,essv2543960,essv2568068,essv2577203,essv2570654,essv2548170,essv2521650,essv2576868,essv2525542,essv2544278,essv2529253,essv2558341,essv2577670,essv2519953,essv2537556,essv2528632,essv2547119,essv2540216,essv2552388,essv2569521,essv2578568,essv2558741,essv2537011,essv2539012,essv2569682,essv2541280,essv2538240,essv2561156,essv2560049,essv2522071,essv2528716,essv2566957,essv2551178,essv2569044,essv2543771,essv2556319,essv2528084,essv2533927,essv2578126,essv2555863,essv2572025,essv2529828,essv2538614,essv2526598,essv2560553,essv2524160,essv2574756,essv2560511,essv2551392,essv2547963,essv2563278 M 157 53 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11830,NA11831,NA11918,NA11992,NA11995,NA12043,NA12044,NA12045,NA12144,NA12154,NA12156,NA12414,NA12749,NA12750,NA12761,NA12815,NA12878,NA12891,NA12892,NA18489,NA18502,NA18508,NA18510,NA18516,NA18517,NA18519,NA18520,NA18545,NA18547,NA18562,NA18570,NA18571,NA18579,NA18853,NA18858,NA18861,NA18870,NA18871,NA18907,NA18916,NA18940,NA18956,NA18973,NA19093,NA19108,NA19114,NA19116,NA19129,NA19138,NA19190,NA19257 esv2579632 7 88230036 88231453 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354833 S 1 0 1 ZNF804B NA18507 nsv888701 7 88319378 88396119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584643 S 6533 0 1 ZNF804B IS37103 dgv7386n71 7 88319378 88439128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888702,nsv888704 M 6533 0 2 ZNF804B IS35743,IS39243 nsv831055 7 88320492 88498710 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446267,nssv1446266 M 95 0 2 ZNF804B esv1612109 7 88322580 88322580 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046894 S 2 1 0 ZNF804B HuRef esv1580714 7 88344272 88344272 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825163 S 2 1 0 ZNF804B HuRef nsv888703 7 88350977 88410446 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541170 S 6533 0 1 ZNF804B MS15199 esv7198 7 88352826 88354234 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29639 S 1 0 0 ZNF804B SJK esv27626 7 88360038 88568802 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16450 S 451 2 0 ZNF804B NA07045,NA12156 nsv888705 7 88381623 88418252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524654 S 6533 1 0 ZNF804B SP55146 dgv7387n71 7 88394771 88429438 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888708,nsv888706 M 6533 0 2 ZNF804B IS31137,IS33811 dgv2116e1 7 88394771 88461395 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22794,esv1420 M 271 0 0 ZNF804B NA12753 nsv888707 7 88398363 88442587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568862 S 6533 0 1 ZNF804B IS31369 esv33064 7 88424548 88429176 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99707 S 51 0 1 ZNF804B 22217 nsv464627 7 88442587 88491821 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540516 S 1557 0 1 ZNF804B 1788485381_A nsv888709 7 88551264 90037945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576222 S 6533 1 0 C7orf63,CLDN12,DPY19L2P4,GTPBP10,STEAP1,STEAP2,ZNF804B IS33959 nsv5829 7 88558043 88590966 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv651 S 9 1 0 ZNF804B NA19240 nsv888710 7 88609031 88624886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570469 S 6533 0 1 ZNF804B IS32079 nsv888711 7 88618495 88666256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580103 S 6533 0 1 ZNF804B IS35229 nsv888712 7 88621188 88721356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566166 S 6533 0 1 ZNF804B IS30597 nsv365593 7 88623319 88623375 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384171 M 24 ZNF804B esv1007484 7 88628793 88628793 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570403 S 3 1 0 ZNF804B HuRef nsv366862 7 88628795 88628795 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385440 M 24 ZNF804B nsv831056 7 88637853 88740787 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446268 S 95 0 1 ZNF804B dgv7388n71 7 88666705 88728436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888713,nsv888714,nsv888715 M 6533 0 3 ZNF804B IS37059,IS38463,IS39011 nsv464629 7 88685980 88729127 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540518 S 1557 0 1 ZNF804B NINDS_2 esv1248186 7 88687369 88687369 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4261147 S 2 1 0 ZNF804B HuRef nsv818535 7 88702368 88709037 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418289,nssv1418288 M 112 0 2 ZNF804B NA19093,NA19094 nsv888716 7 88740958 88779880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566363 S 6533 0 1 ZNF804B IS30668 esv28076 7 88741816 88743413 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13044 S 451 0 1 ZNF804B NA18861 esv259464 7 88752824 88753227 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394065,essv2394260 M 6 0 0 Samples from several populations that are part of the HapMap project. ZNF804B NA19239,NA19240 esv24052 7 88755128 89208981 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17658,esv19780,esv14591 M 451 3 3 ZNF804B NA07045,NA11995,NA12489,NA18511,NA18861 nsv888717 7 88779880 88885758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554155 S 6533 0 1 ZNF804B MS20630 dgv7389n71 7 88793808 88970810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888718,nsv888719 M 6533 0 2 ZNF804B MS21195,MS23495 esv2610773 7 88835885 88837054 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343998 S 1 0 1 "" NA18507 nsv507402 7 88856403 88862403 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621880,nssv617743 M 4 2 0 "" CHM,NA10860 esv2352324 7 88870490 88870890 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869868 S 1 0 1 "" NA18507 nsv5830 7 88906990 88940621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2768 S 9 1 0 "" NA18555 esv1477955 7 88948547 88948547 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797902 S 2 1 0 "" HuRef nsv509214 7 88977325 88977325 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619493 S 4 1 0 "" NA10860 esv268689 7 88980984 88981069 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519396 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07346 nsv831057 7 88991112 89167789 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446269 S 95 1 0 "" nsv366505 7 89019046 89019046 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385083 M 24 "" esv2546708 7 89033914 89035357 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251490 S 1 0 1 "" NA18507 esv2422434 7 89237888 89522125 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161465 S 181 0 1 "" ND03792 esv2422216 7 89238404 89556425 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161540 S 181 1 0 "" ND04045 nsv831058 7 89261349 89450808 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446272,nssv1446271,nssv1446270 M 95 3 0 "" nsv888720 7 89270861 89392191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577103 S 6533 0 1 "" IS34358 nsv525531 7 89327552 89383027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701666 S 2026 0 1 "" dgv7390n71 7 89327552 89401288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888722,nsv888721 M 6533 0 6 "" IS34779,IS39516,IS39626,IS41922,IS41956,MS22322 nsv520652 7 89347872 89362809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697538 S 2026 0 1 "" nsv510096 7 89353883 89359883 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622141,nssv618266 M 4 0 2 "" CHM,NA10860 esv26892 7 89357422 89369397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19018,esv21231 M 451 0 3 "" NA11993,NA12239,NA12828 nsv824203 7 89357787 89370202 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427508 S 31 0 1 "" NA18947 nsv824204 7 89358016 89363777 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432956 S 31 0 1 "" NA18972 nsv517113 7 89358839 89362809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662260,nssv673520,nssv687463,nssv674209,nssv668498,nssv685569,nssv679570,nssv680661,nssv672541,nssv666383,nssv683604,nssv693177,nssv675823,nssv677859,nssv672720,nssv661786,nssv688014,nssv653804,nssv665086,nssv677499,nssv677431,nssv673424,nssv679512,nssv691174,nssv671182,nssv657360,nssv677992,nssv665638,nssv663840,nssv671796,nssv673101,nssv687552,nssv690987,nssv672432,nssv687831,nssv653147,nssv675778,nssv661728,nssv678410,nssv652089,nssv684188,nssv692659,nssv668116,nssv665301,nssv678521,nssv674708,nssv664539,nssv690009,nssv664586 M 2026 0 49 "" dgv423n21 7 89358839 89376559 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527991,nsv527659 M 2026 0 2 "" nsv522933 7 89358839 89444294 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698596 S 2026 1 0 "" nsv888723 7 89362809 89401288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596849 S 6533 0 1 "" IS40657 nsv515997 7 89372542 89721065 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695806,nssv677432,nssv702277,nssv697020,nssv665639,nssv700692,nssv657361 M 2026 4 3 C7orf63,DPY19L2P4,STEAP1,STEAP2 dgv825n27 7 89382249 89547717 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464631,nsv464632,nsv464630 M 1557 0 3 "" 1780854206_A,NINDS_149,NINDS_193 esv2549267 7 89391295 89392968 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167729 S 1 0 1 "" NA18507 esv2395540 7 89391916 89392634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4610604 S 1 0 1 "" NA18507 esv3962 7 89391993 89392684 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26403 S 1 0 1 Single Asian sample YH "" YH esv8946 7 89392053 89392462 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31387 S 1 0 1 "" SJK esv1732751 7 89392102 89392487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3704812 S 2 0 1 "" HuRef esv1006753 7 89392118 89392502 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579537 S 3 0 1 "" HuRef esv1644512 7 89426462 89426462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892485 S 2 1 0 "" HuRef esv2622947 7 89435921 89437653 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334515 S 1 0 1 "" NA18507 esv1975014 7 89436619 89437325 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995241 S 1 0 1 "" NA18507 esv3848 7 89436780 89437274 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26289 S 1 0 1 Single Asian sample YH "" YH nsv366573 7 89436809 89437124 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385151 M 24 "" esv1001090 7 89436811 89437126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566812 S 3 0 1 "" HuRef esv6671 7 89436820 89437124 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29112 S 1 0 1 "" SJK esv1756690 7 89436820 89437136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063032 S 2 0 1 "" HuRef esv1722089 7 89459055 89459055 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757543 S 2 1 0 "" HuRef esv2752191 7 89488794 89572040 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989286,essv6989578,essv6982125 M 771 0 1 "" BEC_521 dgv2117e1 7 89525096 89694580 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19845,esv909 M 271 0 0 DPY19L2P4,STEAP1,STEAP2 NA12234 nsv818536 7 89547717 89573435 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417649 S 112 1 0 "" NA12234 nsv888724 7 89547717 89584907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548150 S 6533 1 0 "" MS17705 nsv510097 7 89612280 89618280 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618267 S 4 0 1 "" CHM nsv508465 7 89615280 89696310 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619992 S 4 0 1 STEAP1,STEAP2 NA15510 nsv511369 7 89645522 89651168 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625973 S 1 0 1 "" 1 nsv511978 7 89647497 89650755 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624521 S 1 0 1 "" 1 nsv819141 7 89647938 89650521 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419446 S 2 1 0 "" AK1 nsv8173 7 89648124 89650324 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18473,nssv14860,nssv15874,nssv18201,nssv15596,nssv15865,nssv14569,nssv15245,nssv16348,nssv15825,nssv14381,nssv15993,nssv15482,nssv15680,nssv16838,nssv17862,nssv15587,nssv16248,nssv18704,nssv16409,nssv17011,nssv18237,nssv19410,nssv16206 M 31 24 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12802,NA12872,NA18502,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv1006022 7 89648309 89653538 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565610 S 3 0 1 "" HuRef nsv820812 7 89648332 89650579 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420684 S 1 0 1 "" NA10851 nsv824205 7 89648332 89650579 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435180,nssv1432137 M 31 0 2 "" AK20,NA18942 esv9367 7 89648347 89650554 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31808 S 1 0 1 "" SJK nsv824206 7 89648357 89649726 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438237,nssv1441155,nssv1424298,nssv1435942,nssv1430665,nssv1426772,nssv1427520,nssv1421796,nssv1436730,nssv1428386,nssv1427108,nssv1432957 M 31 0 12 "" AK10,AK16,AK6,NA18542,NA18566,NA18582,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997 esv28689 7 89648395 89650524 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13838 S 451 31 0 "" NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19257 nsv437989 7 89648463 89650234 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468954,nssv468916,nssv468950,nssv468926,nssv468949,nssv468928,nssv468953,nssv468933,nssv468938,nssv468939,nssv468943,nssv468942,nssv468934,nssv468925,nssv468945,nssv468917,nssv468922,nssv468924,nssv468921,nssv468927,nssv468935,nssv468929,nssv468920,nssv468931,nssv468951,nssv468955,nssv468918,nssv468923,nssv468932,nssv468940,nssv468937,nssv468936,nssv468948,nssv468946,nssv468944,nssv468947 M 269 0 36 Samples from several populations that are part of the HapMap project. "" NA06985,NA07000,NA07345,NA07348,NA10851,NA10856,NA10857,NA10861,NA11830,NA12043,NA12044,NA12056,NA12057,NA12145,NA12707,NA12716,NA12717,NA12740,NA12753,NA12760,NA12801,NA12812,NA12813,NA12815,NA12864,NA12865,NA12874,NA18503,NA18523,NA18914,NA19116,NA19128,NA19129,NA19131,NA19139,NA19207 esv24241 7 89650579 90031122 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13271 S 451 0 1 C7orf63,CLDN12,GTPBP10,STEAP2 NA18511 esv1598664 7 89668397 89668397 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063687 S 2 1 0 "" HuRef nsv8174 7 89674304 89677234 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18503 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv888725 7 89686927 89718484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505050 S 6533 0 1 C7orf63,STEAP2 SP53041 esv32582 7 89710001 89713167 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93258 S 51 1 0 C7orf63 22170 esv1004083 7 89743829 89746487 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563970 S 3 1 0 C7orf63 HuRef nsv507403 7 89744301 89750301 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621881,nssv620385 M 4 2 0 C7orf63 NA10860,NA15510 esv274270 7 89784706 89784984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580008 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv271202 7 89784732 89785021 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541025,essv2550721,essv2535296,essv2552040,essv2578080,essv2546859,essv2519738 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA12155,NA12249,NA12489,NA12761,NA12892,NA18566 esv2068010 7 89859885 89860562 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506674 S 1 0 1 "" NA18507 esv2636436 7 89860074 89860390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204580 S 1 0 1 "" NA18507 nsv888726 7 89906792 89947522 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581910 S 6533 0 1 "" IS35763 nsv515998 7 89938542 90065746 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665640,nssv674797,nssv657362,nssv681563,nssv677433 M 2026 5 0 "" nsv464634 7 89971863 90056282 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540522 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00956 nsv470378 7 89971863 90056282 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546065 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00956 dgv826n27 7 90004841 90059284 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464636,nsv464635 M 1557 2 0 "" HGDP00776,HGDP01198 esv2625644 7 90009975 90011213 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268997 S 1 0 1 "" NA18507 dgv7391n71 7 90020226 90065746 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888728,nsv888729,nsv888727 M 6533 38 0 "" MS10549,MS10566,MS10592,MS11522,MS12005,MS12791,MS13288,MS13500,MS13605,MS14284,MS14681,MS14837,MS16722,MS17114,MS18248,MS18479,MS18588,MS19062,MS20690,MS20784,MS21309,MS21677,MS23628,MS23705,MS24774,MS24783,MS25025,MS25377,MS25553,SP50107,SP51063,SP51265,SP51389,SP52139,SP52951,SP53969,SP54190,SP56007 dgv827n27 7 90023687 90066974 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464638,nsv464637 M 1557 2 0 "" HGDP00711,HGDP00715 nsv824207 7 90023705 90059314 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421798 S 31 1 0 "" NA18997 nsv442057 7 90024002 90058767 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv32570 7 90058850 90060492 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98917 S 51 0 1 "" 21606 nsv464640 7 90099310 90148473 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540528 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00090 nsv527216 7 90141721 90166965 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703616 S 2026 1 0 "" esv268222 7 90169813 90175928 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512962,essv2497208,essv2508269,essv2499890,essv2507938,essv2511368,essv2511694,essv2511077,essv2505482,essv2496017,essv2495228,essv2505644,essv2499074,essv2502198 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA18547,NA18552,NA18561,NA18562,NA18564,NA18570,NA18940,NA18944,NA18952,NA18961,NA18964,NA19005,NA19114,NA19257 esv996268 7 90177447 90182280 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564050 S 3 1 0 CDK14 HuRef nsv888730 7 90210080 90261170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515091 S 6533 0 1 CDK14 SP56120 esv26448 7 90264019 90265576 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19201 S 451 0 1 CDK14 NA18858 esv24639 7 90316490 90317505 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12056 S 451 0 2 CDK14 NA18517,NA18858 nsv470379 7 90354541 90404463 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546076 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDK14 HGDP00877 nsv824208 7 90362201 90364598 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421799 S 31 1 0 CDK14 NA18997 nsv5832 7 90420567 90455617 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv652 S 9 1 0 CDK14 NA19240 esv2523347 7 90421156 90422950 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239545 S 1 0 1 CDK14 NA18507 esv2017217 7 90421671 90422381 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836933 S 1 0 1 CDK14 NA18507 esv2967 7 90421805 90422252 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25408 S 1 0 1 Single Asian sample YH CDK14 YH esv998831 7 90421868 90422174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581916 S 3 0 1 CDK14 HuRef esv1647013 7 90421881 90422188 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4128019 S 2 0 1 CDK14 HuRef nsv5833 7 90474286 90507749 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3550 S 9 1 0 CDK14 NA12878 nsv510098 7 90497209 90503209 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618268 S 4 0 1 CDK14 CHM esv32913 7 90545920 90546514 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97568 S 51 0 1 CDK14 21616 esv33717 7 90551538 90551877 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95725 S 51 1 0 CDK14 21841 nsv528932 7 90564251 90596172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705623 S 2026 0 1 CDK14 nsv510099 7 90625100 90631100 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622142,nssv621316,nssv624040 M 4 0 3 CDK14 NA10860,NA15510,NA18994 nsv517959 7 90630344 90658897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695372 S 2026 0 1 CDK14 nsv524316 7 90632731 90638723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700218 S 2026 0 1 CDK14 esv2616733 7 90737767 90739371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351043 S 1 0 1 "" NA18507 nsv524783 7 90787669 90788159 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700774 S 2026 0 1 "" nsv508466 7 90842991 90897798 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619993 S 4 0 1 "" NA15510 nsv5834 7 90847454 90890759 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11151,nssv2670 M 9 0 2 "" NA15510,NA18555 nsv3 7 90855642 90883670 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv3 S 1 0 1 "" NA15510 nsv8175 7 90868012 90881083 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15617,nssv16278,nssv15895,nssv14599 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18563,NA18564,NA18572,NA18980 nsv435850 7 90868991 90880864 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466383 S 2 0 1 "" NA15510 esv6460 7 90868996 90880516 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28901 S 1 0 1 "" SJK nsv499667 7 90869019 90880521 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586029 S 9 0 1 "" esv2421958 7 90869441 90878663 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5140868,essv5065106,essv5022726,essv5041612,essv5134139,essv5031528,essv5043598,essv5012656,essv5135989,essv5110386,essv5078828,essv5125752,essv5101117,essv5158961,essv5042409,essv5157470,essv5008600,essv5125210,essv5125379,essv5035139,essv5002166,essv5140763,essv5023420,essv5101900,essv5029327,essv5100915,essv5151396,essv5056739,essv5054682,essv5088220,essv5004823,essv5064577,essv5120994,essv5078158,essv5010251,essv5136083,essv5074287,essv5011109,essv5050410,essv5132895,essv5028129,essv5156806,essv5037098,essv5124903,essv5012361,essv5022107,essv5140803,essv5053445,essv5134356,essv5129978,essv5035547,essv5013485,essv5048961,essv5041591,essv5073402,essv5075103,essv5140682,essv5046749,essv5147212,essv5066666,essv5078563,essv5112424,essv5029854,essv5024020,essv5089857,essv5094475,essv5002907,essv5123507,essv5094582,essv5082535,essv5071888,essv5049665,essv5142857,essv5113581,essv5013779,essv5064026,essv5037375,essv5061280,essv5054035,essv5145514,essv5006914,essv5037739,essv5035512,essv5069181,essv5142694,essv5048501,essv5125685,essv5105132,essv5070834,essv5002810,essv5085597,essv5115302,essv5002484 M 1184 0 93 "" NA17962,NA17965,NA17967,NA17968,NA17980,NA17996,NA17998,NA18108,NA18127,NA18132,NA18136,NA18138,NA18144,NA18150,NA18155,NA18157,NA18534,NA18542,NA18545,NA18548,NA18555,NA18558,NA18559,NA18561,NA18563,NA18564,NA18572,NA18577,NA18579,NA18592,NA18593,NA18599,NA18602,NA18603,NA18608,NA18612,NA18613,NA18618,NA18620,NA18623,NA18633,NA18634,NA18635,NA18636,NA18638,NA18639,NA18642,NA18643,NA18670,NA18689,NA18740,NA18745,NA18747,NA18939,NA18940,NA18945,NA18948,NA18957,NA18963,NA18965,NA18968,NA18970,NA18973,NA18977,NA18980,NA18995,NA19002,NA19010,NA19055,NA19062,NA19064,NA19066,NA19067,NA19075,NA19077,NA19079,NA19084,NA19088,NA19654,NA19660,NA19661,NA19662,NA19663,NA19665,NA19669,NA19671,NA19682,NA19683,NA19685,NA19776,NA19778,NA19795,NA19796 nsv820310 7 90869498 90880956 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418610 S 2 0 1 "" AK1 nsv442030 7 90869671 90878663 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1121n67 7 90870713 90879046 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824212,nsv824210,nsv824211 M 31 0 9 "" AK10,AK14,AK18,AK2,AK8,NA18542,NA18564,NA18592,NA18968 esv29828 7 90870928 90880493 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19455 S 451 0 1 "" NA15510 nsv514431 7 90870960 90878056 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627887 S 1414 0 1 "" nsv508467 7 90906012 90965523 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618817 S 4 0 1 "" NA10860 nsv522893 7 90961358 91048609 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698551 S 2026 1 0 "" nsv831060 7 90965369 91168756 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446274 S 95 1 0 "" dgv7392n71 7 90996284 91029600 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888731,nsv888732 M 6533 0 2 "" SP56022,SP56834 nsv818537 7 91005333 91012199 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417885 S 112 1 0 "" NA18852 nsv508468 7 91020463 91084145 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617349,nssv619994 M 4 0 2 "" CHM,NA15510 nsv5835 7 91031646 91089362 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv653,nssv5002,nssv3552,nssv2671,nssv6149,nssv9908 M 9 0 6 "" NA12156,NA12878,NA18507,NA18555,NA19129,NA19240 nsv4 7 91033112 91073941 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv4 S 1 0 1 "" NA15510 esv270773 7 91046788 91046873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516675,essv2515764 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12815 nsv8176 7 91047002 91056658 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18533 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 nsv436554 7 91052079 91060158 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466385 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499771 7 91052152 91058686 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586030 S 9 0 1 "" nsv831061 7 91106328 91303073 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446275 S 95 1 0 "" nsv5836 7 91111733 91118899 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8399 S 9 0 1 "" NA12156 esv2268090 7 91179229 91179591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913938 S 1 0 1 "" NA18507 nsv437556 7 91192267 91199648 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467437 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv27888 7 91196493 91198343 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18513 S 451 0 1 "" NA19114 nsv515779 7 91196567 91196798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689190,nssv661551,nssv678742,nssv681094,nssv668889,nssv668520,nssv671408,nssv688164,nssv667586,nssv692227,nssv691575,nssv688943,nssv685500,nssv693142,nssv658518,nssv676187,nssv664748,nssv679287,nssv675322,nssv684772,nssv660807,nssv666909 M 2026 0 22 "" nsv437990 7 91213574 91226772 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468957,nssv468956 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18964,NA18994 nsv5837 7 91236803 91239482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2769 S 9 1 0 "" NA18555 esv26445 7 91400276 91402691 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10113 S 451 0 2 "" NA19099,NA19114 nsv5838 7 91409464 91454472 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8400 S 9 0 1 AKAP9 NA12156 nsv888733 7 91418426 91578732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504365 S 6533 1 0 AKAP9 SP52439 nsv888734 7 91504597 91739652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576176 S 6533 0 1 AKAP9,ANKIB1,CYP51A1,KRIT1,LRRD1 IS33894 esv270450 7 91589450 91589785 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558016,essv2571741,essv2546332,essv2525895,essv2522693,essv2568328,essv2545274,essv2523106,essv2570698,essv2548588,essv2576872,essv2550610,essv2550280,essv2535157,essv2520279,essv2547516,essv2529306,essv2558635,essv2564746,essv2576242,essv2520274,essv2564088,essv2530761,essv2561840,essv2537501,essv2528202,essv2520791,essv2556939,essv2532126,essv2569346,essv2578858,essv2537161,essv2538889,essv2527255,essv2523562,essv2542955,essv2524680,essv2534727,essv2560951,essv2519499,essv2565923,essv2528926,essv2570124,essv2553195,essv2566689,essv2551016,essv2543559,essv2539471,essv2534037,essv2573147,essv2567055,essv2522447,essv2573693,essv2525628,essv2526998,essv2529621,essv2530217,essv2568474,essv2545807,essv2535911,essv2538012,essv2549054,essv2554373,essv2524899,essv2563481 M 157 65 0 Samples from several populations that are part of the HapMap project. CYP51A1 NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11840,NA11881,NA11918,NA11931,NA11995,NA12003,NA12004,NA12044,NA12045,NA12154,NA12155,NA12234,NA12249,NA12716,NA12717,NA12749,NA12750,NA12751,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA18498,NA18501,NA18505,NA18508,NA18510,NA18517,NA18519,NA18522,NA18537,NA18550,NA18555,NA18561,NA18562,NA18566,NA18572,NA18579,NA18593,NA18605,NA18853,NA18858,NA18870,NA18912,NA18916,NA18942,NA18947,NA18960,NA18964,NA18980,NA19005,NA19093,NA19141,NA19147,NA19239 esv272316 7 91589454 91589787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581858,essv2582871 M 7 2 0 Samples from several populations that are part of the HapMap project. CYP51A1 NA12878,NA12892 nsv5839 7 91591046 91617990 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10564 S 9 1 0 CYP51A1,LRRD1 NA18956 nsv888735 7 91597533 91836431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582355 S 6533 0 1 ANKIB1,CYP51A1,KRIT1,LRRD1 IS35911 nsv5840 7 91921673 91954243 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10565 S 9 1 0 GATAD1 NA18956 nsv5841 7 91989594 92022925 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8401 S 9 1 0 C7orf64,MGC16142,PEX1 NA12156 esv2584401 7 92019062 92019877 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393236 S 1 1 0 "" NA18507 esv268587 7 92043594 92043699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509919,essv2494015,essv2513248,essv2510804 M 157 4 0 Samples from several populations that are part of the HapMap project. FAM133B,LOC728066 NA18508,NA18871,NA18907,NA19116 nsv819408 7 92075188 92075565 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418927 S 2 1 0 CDK6 AK1 nsv831062 7 92079170 92298547 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446276 S 95 1 0 CDK6 nsv516592 7 92102929 92117299 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669443,nssv705410,nssv662501 M 2026 2 1 CDK6 nsv888736 7 92138976 92271288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576177 S 6533 0 1 CDK6 IS33894 nsv365451 7 92313763 92315982 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384029 M 24 "" nsv437022 7 92317708 92356560 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466903 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10854 nsv437991 7 92318773 92335363 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468958,nssv468960,nssv468959,nssv468961 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10854,NA11840 nsv5843 7 92364478 92409461 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8402 S 9 0 1 "" NA12156 esv2752192 7 92371091 92468390 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983182,essv6983181 M 771 1 0 "" BEC_550 esv269605 7 92379789 92380133 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510635,essv2504132,essv2509333,essv2495561,essv2504648,essv2509619 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18909,NA18916,NA19099,NA19129 nsv510100 7 92447699 92453699 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618269 S 4 0 1 "" CHM nsv5844 7 92471357 92504385 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2672 S 9 1 0 "" NA18555 nsv525606 7 92486276 92492775 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701751 S 2026 0 1 "" nsv366418 7 92522115 92526239 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384996 M 24 "" nsv5845 7 92534640 92579206 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4609 S 9 0 1 SAMD9 NA19129 nsv528267 7 92685367 92753301 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704835 S 2026 0 1 CCDC132,HEPACAM2 esv2581618 7 92691325 92692726 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325551 S 1 0 1 HEPACAM2 NA18507 nsv888737 7 92808783 93217676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553938 S 6533 0 1 CALCR,CCDC132,MIR4652,MIR489,MIR653 MS20440 nsv442058 7 92831876 92835589 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23714 7 92832249 92838789 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14571 S 451 0 1 "" NA12004 nsv514432 7 92832424 92834680 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627888 S 1414 0 1 "" nsv517660 7 92833046 92833688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669858,nssv683034,nssv652734,nssv679531 M 2026 0 4 "" esv270438 7 92862231 92862524 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493233,essv2510930,essv2498715,essv2499702 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA19116,NA19138,NA19225 esv270500 7 92984517 92984748 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512518,essv2511801,essv2494367,essv2504128,essv2494782,essv2508999,essv2506195,essv2508743,essv2500452,essv2499996,essv2511281,essv2500659,essv2494411,essv2500079,essv2512711,essv2508101,essv2510057,essv2496116,essv2499327,essv2500961,essv2498492,essv2505832,essv2507135,essv2493917,essv2513241,essv2509305,essv2507413,essv2495691,essv2511070,essv2503471,essv2493066,essv2497372,essv2503742,essv2495229,essv2504605,essv2506448,essv2509636,essv2497099,essv2512013,essv2501880,essv2498153 M 157 41 0 Samples from several populations that are part of the HapMap project. CALCR NA18489,NA18499,NA18502,NA18505,NA18519,NA18522,NA18523,NA18532,NA18537,NA18558,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18593,NA18603,NA18605,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18944,NA18947,NA18951,NA18959,NA18960,NA18964,NA19099,NA19108,NA19129,NA19190,NA19238,NA19239,NA19240 esv272958 7 92984524 92984705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582165,essv2582353,essv2583188 M 7 3 0 Samples from several populations that are part of the HapMap project. CALCR NA12878,NA12891,NA12892 nsv464641 7 93001655 93060741 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540529 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CALCR HGDP00056 nsv470380 7 93001655 93060741 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546087 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CALCR HGDP00056 nsv5846 7 93003678 93037469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3553 S 9 1 0 CALCR NA12878 esv999961 7 93007923 93008039 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571900 S 3 0 1 CALCR HuRef esv24678 7 93064298 93064871 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12051 S 451 0 1 "" NA18858 nsv5847 7 93158021 93194178 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5003,nssv654 M 9 0 2 MIR4652 NA19129,NA19240 nsv820757 7 93163481 93170453 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420685 S 1 0 1 "" NA10851 dgv65n64 7 93163996 93168493 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818538,nsv818539 M 112 0 4 "" NA10851,NA12056,NA18576,NA18999 dgv132n17 7 93163996 93172382 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437023,nsv437558,nsv437025 M 60 0 3 "" NA10847,NA12707,NA19173 nsv819885 7 93164339 93171383 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419802 S 2 1 0 "" AK1 nsv8177 7 93164345 93172440 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16308,nssv18163,nssv18563,nssv16378,nssv15710,nssv17892,nssv16569,nssv16236,nssv15384,nssv18231,nssv15647,nssv15925,nssv14629,nssv15937,nssv15172,nssv18734,nssv15916,nssv15855,nssv15512,nssv16868,nssv18267,nssv15626 M 31 21 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA11830,NA12155,NA12740,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144 dgv1122n67 7 93164650 93170453 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824213,nsv824214 M 31 0 4 "" NA18942,NA18969,NA18973,NA18999 esv25525 7 93164739 93170322 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12536 S 451 29 1 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19257 nsv499563 7 93165078 93170218 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586031 S 9 0 1 "" nsv514433 7 93165112 93169360 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627889 S 1414 0 1 "" esv33560 7 93165118 93169270 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98749,essv97455,essv94709,essv94793,essv94434,essv95388,essv101778,essv98997,essv92925,essv92709,essv96616,essv98565,essv96021,essv96061,essv93517,essv92610,essv98122,essv97700,essv99416 M 51 0 17 "" 21606,21616,21791,21808,21872,21909,21938,21939,21944,22011,22085,22127,22128,22233,22259,22278,22335 esv2422143 7 93165330 93168493 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5077355,essv5134586,essv5138159,essv5151686,essv5078968,essv5044752,essv5052726,essv5115052,essv5111411,essv5011726,essv5018992,essv5144104,essv5050443,essv5008865,essv5141849,essv5135287,essv5023459,essv5004834,essv5055653,essv5136060,essv5039971,essv5158011,essv5020752,essv5062502,essv5093028,essv5126001,essv5056355,essv5064733,essv5130566,essv5071049,essv5129450,essv5103901,essv5082574,essv5091710,essv5031048,essv5066642,essv5142585,essv5085863,essv5044009,essv5096907,essv5056278,essv5072934,essv5138514,essv5096634,essv5058682,essv5084546,essv5031300,essv5062984,essv5050933,essv5079646,essv5126327,essv5049322,essv5005865,essv5054348,essv5056002,essv5061913,essv5096855,essv5028981,essv5042996,essv5046162,essv5067920,essv5038982,essv5127107,essv5009763,essv5142404,essv5129797,essv5101886,essv5025405,essv5020729,essv5049540,essv5126551,essv5077427,essv5109419,essv5015848,essv5159591,essv5058011,essv5037159,essv5016724,essv5012458,essv5079730,essv5013611,essv5159063,essv5089864,essv5011542,essv5073745,essv5135626,essv5015186,essv5030468,essv5103240,essv5042922,essv5160038,essv5057452,essv5098878,essv5006264,essv5148661,essv5044899,essv5015664,essv5040358,essv5012578,essv5028493,essv5065557,essv5137219,essv5110882,essv5070506,essv5093480,essv5111903,essv5019769,essv5007788,essv5012879,essv5109166,essv5007433,essv5105864,essv5100011,essv5157133,essv5134226,essv5024418,essv5007213,essv5073827,essv5021367,essv5050124,essv5146932,essv5040872,essv5088982,essv5045387,essv5066314,essv5002378,essv5144637,essv5097453,essv5089219,essv5115249,essv5111457,essv5110892,essv5034088,essv5071297,essv5126401,essv5130159,essv5015721,essv5083610,essv5055662,essv5105259,essv5120201,essv5119438,essv5131048,essv5153155,essv5055739,essv5086735,essv5066055,essv5153530,essv5037137,essv5088515,essv5074212,essv5008958,essv5125074,essv5029502,essv5036741,essv5121463,essv5066913,essv5021468,essv5085131,essv5124786,essv5063938,essv5047404,essv5138045,essv5072780,essv5052619,essv5155173,essv5086132,essv5014134,essv5104483,essv5156388,essv5061872,essv5081730,essv5110793,essv5126843,essv5043392,essv5047188,essv5092319,essv5157784,essv5143460,essv5102178,essv5156125,essv5002837,essv5145811,essv5140436,essv5137762,essv5046814,essv5029717,essv5152605,essv5124386,essv5063909,essv5144912,essv5024904,essv5059403,essv5093147,essv5032254,essv5050930,essv5103377,essv5047773,essv5067734,essv5002886,essv5025034,essv5116701,essv5096803,essv5007227,essv5068987,essv5018795,essv5014697,essv5035458,essv5160954,essv5070226,essv5006318,essv5128858,essv5055319,essv5140806,essv5114256,essv5096211,essv5074484,essv5074282,essv5077432,essv5037222,essv5132401,essv5022363,essv5142329,essv5013413,essv5153657,essv5088153,essv5140457,essv5144407,essv5008265,essv5033601,essv5058829,essv5012749,essv5035750,essv5112517,essv5005084,essv5006705,essv5047373,essv5108733,essv5063920,essv5023229,essv5122323,essv5025746,essv5137595,essv5008973,essv5117796,essv5160028,essv5065482,essv5147661,essv5109507,essv5055460,essv5158726,essv5039115,essv5020332,essv5032295,essv5030736,essv5067996,essv5114392,essv5007814,essv5090676,essv5009998,essv5109026,essv5071688,essv5121411,essv5093138,essv5077452,essv5066624,essv5070057,essv5015544,essv5065437,essv5064038,essv5086283,essv5042414,essv5148247,essv5050499,essv5023094,essv5030758,essv5006353,essv5047581,essv5153137,essv5071301,essv5036379,essv5056886,essv5118409,essv5097017,essv5128647,essv5004118,essv5087554,essv5128573,essv5018400,essv5019855,essv5110753,essv5037667,essv5143975,essv5043631,essv5123994,essv5135960,essv5160699,essv5003873,essv5048889,essv5146118,essv5044210,essv5111380,essv5068857,essv5034207,essv5066654,essv5089144,essv5159682,essv5113587,essv5125580,essv5124174,essv5145380,essv5128934,essv5037771 M 1184 0 313 "" NA06989,NA06994,NA06995,NA06997,NA07022,NA07037,NA07045,NA07051,NA07055,NA07357,NA07435,NA10830,NA10836,NA10838,NA10839,NA10847,NA10852,NA10853,NA10854,NA10856,NA10865,NA11829,NA11839,NA11840,NA11882,NA11892,NA11918,NA11994,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12144,NA12145,NA12154,NA12239,NA12248,NA12275,NA12335,NA12340,NA12344,NA12347,NA12348,NA12376,NA12383,NA12399,NA12489,NA12707,NA12708,NA12718,NA12750,NA12760,NA12766,NA12775,NA12776,NA12777,NA12802,NA12813,NA12814,NA12818,NA12827,NA12830,NA12864,NA12865,NA12872,NA12873,NA12875,NA12891,NA12892,NA18136,NA18486,NA18488,NA18500,NA18532,NA18558,NA18576,NA18621,NA18631,NA18702,NA18861,NA18867,NA18868,NA18869,NA18870,NA18872,NA18913,NA18914,NA18999,NA19035,NA19096,NA19102,NA19117,NA19127,NA19129,NA19140,NA19146,NA19148,NA19150,NA19151,NA19159,NA19161,NA19171,NA19172,NA19173,NA19176,NA19178,NA19179,NA19180,NA19181,NA19183,NA19189,NA19191,NA19198,NA19201,NA19203,NA19206,NA19210,NA19211,NA19214,NA19215,NA19221,NA19222,NA19238,NA19240,NA19307,NA19308,NA19313,NA19327,NA19332,NA19372,NA19373,NA19375,NA19396,NA19399,NA19430,NA19439,NA19443,NA19456,NA19457,NA19462,NA19467,NA19469,NA19470,NA19472,NA19474,NA19651,NA19653,NA19654,NA19656,NA19657,NA19659,NA19669,NA19700,NA19712,NA19722,NA19724,NA19746,NA19747,NA19748,NA19749,NA19751,NA19755,NA19757,NA19770,NA19771,NA19772,NA19776,NA19777,NA19778,NA19783,NA19789,NA19794,NA19796,NA19819,NA19828,NA19908,NA19914,NA19915,NA19916,NA20279,NA20281,NA20284,NA20297,NA20317,NA20319,NA20332,NA20333,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20349,NA20350,NA20357,NA20358,NA20359,NA20360,NA20502,NA20508,NA20510,NA20515,NA20518,NA20519,NA20520,NA20524,NA20525,NA20529,NA20530,NA20531,NA20544,NA20581,NA20588,NA20589,NA20756,NA20758,NA20759,NA20760,NA20768,NA20771,NA20772,NA20775,NA20783,NA20790,NA20795,NA20799,NA20800,NA20801,NA20802,NA20805,NA20808,NA20809,NA20810,NA20811,NA20818,NA20819,NA20826,NA20861,NA20866,NA20869,NA20873,NA20874,NA20877,NA20879,NA20883,NA20887,NA20891,NA20896,NA20897,NA20898,NA20899,NA20900,NA20904,NA20906,NA20907,NA20908,NA21091,NA21098,NA21099,NA21100,NA21103,NA21105,NA21107,NA21108,NA21113,NA21119,NA21137,NA21142,NA21143,NA21297,NA21302,NA21303,NA21339,NA21352,NA21355,NA21356,NA21360,NA21365,NA21371,NA21378,NA21400,NA21414,NA21417,NA21425,NA21436,NA21439,NA21447,NA21451,NA21454,NA21455,NA21457,NA21473,NA21493,NA21494,NA21509,NA21519,NA21520,NA21523,NA21528,NA21574,NA21575,NA21578,NA21596,NA21599,NA21600,NA21601,NA21613,NA21650,NA21682 nsv517075 7 93165330 93168493 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675154,nssv673149,nssv690905,nssv663268,nssv691240,nssv653737,nssv689439,nssv661729,nssv693557,nssv691954,nssv683999,nssv693820,nssv661797,nssv676674,nssv668602,nssv656599,nssv663507,nssv668259,nssv668146,nssv664440,nssv675033,nssv657223,nssv665885,nssv672514,nssv670667,nssv663994,nssv674620,nssv675134,nssv681677,nssv687645,nssv669001,nssv675300,nssv691508,nssv688851,nssv688377,nssv656451,nssv665829,nssv663714,nssv659443,nssv666662,nssv664268,nssv654432,nssv685655,nssv665252,nssv658810,nssv662752,nssv669078,nssv678383,nssv668913,nssv664795,nssv690227,nssv672433,nssv659162,nssv688115,nssv661664,nssv658606,nssv670830,nssv680526,nssv669721,nssv653148,nssv663688,nssv687832,nssv673074,nssv685319,nssv679453,nssv658446,nssv664460,nssv693236,nssv673012,nssv652185,nssv654680,nssv658395,nssv680495,nssv654835,nssv654144,nssv694026,nssv664051,nssv655344,nssv660639,nssv671336,nssv659004,nssv682971,nssv679745,nssv660968,nssv663162,nssv657644,nssv665754,nssv671501,nssv693524,nssv654112,nssv691706,nssv690171,nssv663868 M 2026 4 89 "" nsv526493 7 93165330 93172382 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702802 S 2026 1 0 "" nsv437992 7 93165415 93168493 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468962,nssv468969,nssv468967,nssv468966,nssv468970,nssv468971,nssv468965,nssv468968 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA10847,NA10854,NA12056,NA12239,NA12707,NA12717,NA12814,NA12864 esv269825 7 93170195 93170537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518764,essv2513790,essv2518345 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA19143,NA19240 esv274619 7 93170195 93170537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581576,essv2581109 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv526004 7 93187787 93188376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702232 S 2026 0 1 "" esv268463 7 93195296 93195631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565612,essv2521032,essv2526166,essv2522896,essv2556799,essv2545416,essv2523283,essv2531849,essv2521599,essv2576869,essv2525531,essv2550461,essv2535413,essv2544266,essv2547147,essv2558263,essv2564404,essv2553614,essv2565487,essv2554934,essv2530711,essv2537386,essv2528338,essv2547095,essv2550174,essv2562902,essv2523654,essv2541328,essv2542876,essv2540564,essv2524362,essv2534725,essv2559891,essv2528683,essv2567527,essv2570023,essv2572478,essv2559405,essv2555519,essv2525651,essv2533243,essv2554358,essv2525008,essv2563424 M 157 44 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07357,NA10847,NA11829,NA11894,NA11918,NA11931,NA11994,NA12003,NA12004,NA12006,NA12144,NA12154,NA12156,NA12234,NA12249,NA12414,NA12717,NA12750,NA12751,NA12763,NA12812,NA12872,NA12873,NA12878,NA12891,NA12892,NA18511,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18561,NA18570,NA18579,NA18582,NA18593,NA18609,NA18638,NA18945,NA18980 esv274247 7 93195298 93195633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582041,essv2582659,essv2584781 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 nsv5848 7 93229124 93284639 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9909,nssv655,nssv10566,nssv5004,nssv3554,nssv2673,nssv6150 M 9 0 7 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 dgv122n16 7 93252750 93262498 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435848,nsv436548 M 2 0 2 "" NA15510,NA18505 esv996199 7 93252778 93263487 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564970 S 3 0 1 "" HuRef nsv508469 7 93254140 93263694 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622580 S 4 0 1 "" NA18994 esv2444888 7 93254210 93261381 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185642 S 1 0 1 "" NA18507 esv4897 7 93254844 93261004 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27338 S 1 0 1 Single Asian sample YH "" YH nsv499257 7 93254863 93260942 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586032 S 9 0 1 "" esv9264 7 93254870 93260928 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31705 S 1 0 1 "" SJK nsv366571 7 93254878 93260941 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385149 M 24 "" nsv888738 7 93273903 93360865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554623 S 6533 0 1 TFPI2 MS20872 nsv511379 7 93378284 93380301 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625985 S 1 0 1 GNGT1 1 esv7400 7 93379263 93383452 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29841 S 1 0 1 "" SJK dgv1123n67 7 93379543 93380485 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824216,nsv824217,nsv824215 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821344 7 93379543 93380485 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420686 S 1 0 1 "" NA10851 esv2018727 7 93379563 93380678 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4875379 S 1 0 1 "" NA18507 esv2821 7 93379722 93380592 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25262 S 1 0 1 Single Asian sample YH "" YH esv27908 7 93379735 93380461 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12174 S 451 28 0 "" NA06985,NA07037,NA11993,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv169e180 7 93379735 93380485 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995356,esv1009472 M 3 1 0 "" HuRef esv8619 7 93379750 93380488 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31060 S 1 0 1 "" SJK nsv824218 7 93379829 93380485 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427571,nssv1435182 M 31 0 2 "" AK8,NA18942 esv2644775 7 93451725 93453036 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308025 S 1 0 1 "" NA18507 esv2540921 7 93460698 93461800 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224101 S 1 0 1 BET1 NA18507 esv2422226 7 93487194 93793525 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161363 S 181 0 1 "" ND01670 nsv5849 7 93497780 93531507 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5005 S 9 1 0 "" NA19129 esv268265 7 93504130 93504464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501221,essv2506830 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19093,NA19102 nsv464642 7 93721535 93919117 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540530 S 1557 0 1 COL1A2 NINDS_71 esv2361595 7 93730329 93730919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693729 S 1 0 1 "" NA18507 nsv365980 7 93730519 93730716 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384558 M 24 "" nsv5850 7 93898799 93931261 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv656 S 9 1 0 "" NA19240 esv7020 7 93903687 93903757 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29461 S 1 1 0 "" SJK esv2499117 7 93905418 93906841 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365696 S 1 0 1 "" NA18507 esv4671 7 93947783 93950901 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27112 S 1 0 1 Single Asian sample YH "" YH esv7193 7 93947836 93950817 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29634 S 1 0 1 "" SJK esv2422248 7 94011081 94422566 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161318 S 181 1 0 CASD1,PEG10,PPP1R9A,SGCE ND01705 esv1011269 7 94126691 94126764 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575302 S 3 0 1 PEG10 HuRef nsv888739 7 94161958 94206832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514435,nssv1501204 M 6533 0 2 "" SP51086,SP56004 nsv527530 7 94170328 94218445 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703988 S 2026 1 0 "" nsv464643 7 94176799 94409268 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540531 S 1557 1 0 PPP1R9A NINDS_91 nsv831063 7 94209394 94381364 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446277 S 95 1 0 PPP1R9A nsv523751 7 94218445 94244361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699568 S 2026 0 1 "" esv1498242 7 94306933 94306995 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711617 S 2 0 1 "" HuRef nsv528449 7 94472333 94481051 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705048 S 2026 0 1 PPP1R9A esv268608 7 94616963 94617048 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514741,essv2515409,essv2514958,essv2515680,essv2518011,essv2514379,essv2517790,essv2516268,essv2515820 M 157 9 0 Samples from several populations that are part of the HapMap project. PPP1R9A NA12234,NA12249,NA12812,NA12815,NA12872,NA12874,NA12878,NA12891,NA18969 esv274084 7 94616969 94617305 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583925,essv2584494,essv2583537 M 7 3 0 Samples from several populations that are part of the HapMap project. PPP1R9A NA19238,NA19239,NA19240 nsv524733 7 94624602 94651324 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700724 S 2026 0 1 PPP1R9A nsv518209 7 94624602 94668979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694212 S 2026 0 1 PPP1R9A esv2520191 7 94714855 94715887 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329269 S 1 1 0 PPP1R9A NA18507 esv268363 7 94715414 94715716 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575987,essv2571803,essv2546182,essv2521056,essv2526317,essv2542392,essv2536774,essv2522946,essv2568361,essv2523303,essv2577435,essv2570752,essv2548230,essv2521508,essv2576791,essv2550467,essv2535249,essv2554154,essv2544296,essv2552255,essv2520388,essv2529291,essv2558656,essv2564467,essv2553787,essv2576139,essv2540016,essv2520882,essv2557438,essv2552522,essv2551651,essv2532426,essv2562792,essv2569539,essv2558840,essv2539228,essv2569724,essv2561640,essv2544807,essv2523533,essv2553055,essv2541323,essv2540318,essv2565161,essv2534549,essv2561162,essv2549381,essv2566043,essv2567806,essv2528993,essv2553332,essv2542082,essv2550945,essv2568887,essv2562266,essv2539423,essv2555246,essv2555594,essv2566348,essv2531538,essv2573383,essv2543317,essv2577180,essv2575695,essv2538598,essv2524263,essv2568464,essv2560352,essv2571223,essv2574442,essv2551441,essv2536306,essv2547899,essv2524779,essv2563428,essv2557902 M 157 76 0 Samples from several populations that are part of the HapMap project. PPP1R9A NA06986,NA07347,NA07357,NA10847,NA10851,NA11830,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11995,NA12004,NA12043,NA12044,NA12045,NA12144,NA12154,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12749,NA12750,NA12751,NA12763,NA12814,NA18489,NA18498,NA18499,NA18502,NA18504,NA18505,NA18507,NA18508,NA18516,NA18519,NA18520,NA18523,NA18526,NA18537,NA18542,NA18545,NA18552,NA18558,NA18561,NA18562,NA18564,NA18572,NA18577,NA18579,NA18605,NA18856,NA18858,NA18861,NA18909,NA18912,NA18943,NA18945,NA18948,NA18961,NA18964,NA18965,NA18970,NA19099,NA19108,NA19129,NA19147,NA19190,NA19238,NA19240,NA19257 esv274244 7 94715417 94715717 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582155,essv2582615,essv2582929 M 7 3 0 Samples from several populations that are part of the HapMap project. PPP1R9A NA12878,NA12891,NA12892 esv1256443 7 94715445 94715445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3602293 S 2 1 0 PPP1R9A HuRef nsv888740 7 94722317 94839469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537997 S 6533 1 0 PON1,PON3,PPP1R9A MS13444 esv2518650 7 94736683 94738165 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376395 S 1 0 1 PPP1R9A NA18507 nsv888741 7 94771125 94787265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506589 S 6533 0 1 PON1 SP54381 nsv5851 7 94775694 94807102 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8403 S 9 0 1 PON1 NA12156 nsv528555 7 94778523 94796564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705169 S 2026 0 1 PON1 dgv7393n71 7 94793756 94806277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888744,nsv888749,nsv888742,nsv888748,nsv888745 M 6533 0 7 "" SP54406,SP54407,SP54579,SP54622,SP55694,SP55878,SP57921 nsv888743 7 94793756 94839469 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505280 S 6533 1 0 PON3 SP53347 dgv7394n71 7 94795477 94814903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888746,nsv888750 M 6533 0 2 "" SP52093,SP56143 nsv888747 7 94795477 94824116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513805,nssv1518219 M 6533 0 2 "" SP55847,SP57472 nsv888751 7 94804103 94825059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504692 S 6533 0 1 "" SP52708 nsv527502 7 94815573 94815689 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703952 S 2026 0 1 "" nsv888752 7 94864392 94873103 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503553 S 6533 1 0 PON2 SP52077 nsv888753 7 94872757 94877330 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503516 S 6533 0 1 PON2 SP52077 nsv888754 7 94883243 94892193 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519451 S 6533 1 0 PON2 SP81036 nsv521512 7 94916111 94916232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694455 S 2026 0 1 "" esv267609 7 94939092 94939412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510246,essv2495408,essv2499334,essv2505126,essv2507954,essv2508089,essv2501672,essv2505529,essv2513163,essv2510372,essv2493335,essv2505019,essv2508891,essv2500252,essv2502837,essv2496820,essv2496393,essv2496287,essv2494885,essv2500449,essv2503308,essv2494571,essv2497254,essv2499970,essv2499852,essv2507829,essv2500612,essv2494503,essv2507684,essv2508187,essv2508434,essv2510035,essv2499285,essv2501620,essv2512849,essv2507463,essv2511671,essv2504960,essv2503156,essv2511153,essv2512308,essv2509403,essv2497380,essv2503726,essv2495961,essv2495129,essv2512785,essv2506937,essv2495809,essv2495055,essv2511561 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10851,NA11919,NA11994,NA11995,NA12003,NA12045,NA12144,NA12154,NA12249,NA12414,NA12776,NA12828,NA12878,NA12891,NA12892,NA18498,NA18510,NA18511,NA18520,NA18537,NA18542,NA18550,NA18552,NA18558,NA18562,NA18564,NA18571,NA18572,NA18576,NA18579,NA18582,NA18593,NA18605,NA18608,NA18609,NA18638,NA18940,NA18942,NA18943,NA18944,NA18949,NA18953,NA18959,NA18960,NA18961,NA18964,NA18980,NA19102 esv272657 7 94939092 94939413 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580218,essv2580308,essv2579890 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv819042 7 95011435 95011706 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419603 S 2 0 1 "" AK1 esv2427806 7 95102322 95103398 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357750 S 1 1 0 "" NA18507 esv269657 7 95102684 95102962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511754,essv2510778,essv2502930,essv2493675,essv2513323,essv2499165,essv2496977 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18507,NA18517,NA18907,NA19114,NA19190 esv2261229 7 95104134 95104574 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4530500 S 1 0 1 "" NA18507 nsv818540 7 95185883 95201797 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417326 S 112 1 0 "" NA18608 esv2634137 7 95223330 95225081 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222651 S 1 0 1 "" NA18507 esv2094914 7 95223995 95224733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827958 S 1 0 1 "" NA18507 esv4284 7 95224091 95224702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26725 S 1 0 1 Single Asian sample YH "" YH nsv365457 7 95224190 95224520 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384035 M 24 "" esv9287 7 95224203 95224526 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31728 S 1 0 1 "" SJK esv274966 7 95333402 95342478 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585579,essv2586022 M 1250 1 1 DYNC1I1 nsv5852 7 95421171 95449071 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11152 S 9 1 0 DYNC1I1 NA15510 nsv527504 7 95429163 95440781 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703956 S 2026 1 0 DYNC1I1 nsv5856 7 95479767 95514978 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv659 S 9 1 0 DYNC1I1 NA19240 esv270373 7 95550658 95550778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510612,essv2493260,essv2505730,essv2493995,essv2506992,essv2497678,essv2510449 M 157 7 0 Samples from several populations that are part of the HapMap project. DYNC1I1 NA18501,NA18504,NA18861,NA18871,NA19102,NA19147,NA19172 esv1986427 7 95614110 95614563 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513115 S 1 0 1 SLC25A13 NA18507 esv1678533 7 95708300 95708300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220221 S 2 1 0 SLC25A13 HuRef nsv888755 7 95718465 95884378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555500 S 6533 0 1 SLC25A13 MS21397 nsv510101 7 95733600 95739600 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624041 S 4 0 1 SLC25A13 NA18994 nsv888756 7 95775034 96181601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552153 S 6533 1 0 FLJ42280,LOC100506136,SHFM1,SLC25A13 MS19246 nsv510102 7 95837145 95843145 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622143,nssv618270,nssv621317,nssv624042 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv507404 7 95876593 95882593 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621882 S 4 1 0 "" NA10860 esv2151047 7 95905268 95905961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4795706 S 1 0 1 "" NA18507 esv3411 7 95905401 95905818 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25852 S 1 0 1 Single Asian sample YH "" YH esv8260 7 95905449 95905777 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30701 S 1 0 1 "" SJK nsv831064 7 95945466 96126978 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446278 S 95 1 0 FLJ42280,LOC100506136 esv27008 7 95954262 95955327 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17662 S 451 0 5 FLJ42280 NA18858,NA18907,NA18909,NA19099,NA19147 nsv831065 7 96113768 96273967 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446279 S 95 1 0 LOC100506136,SHFM1 nsv5857 7 96278100 96332046 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10567,nssv9719,nssv3555,nssv11153,nssv660,nssv5006,nssv6151,nssv2674 M 9 0 8 "" NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 nsv5 7 96289288 96332046 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv5 S 1 0 1 "" NA15510 esv2595612 7 96312162 96320348 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229567 S 1 0 1 "" NA18507 esv1004364 7 96312424 96319987 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563963 S 3 0 1 "" HuRef dgv123n16 7 96312506 96320964 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435846,nsv436553 M 2 0 2 "" NA15510,NA18505 nsv508472 7 96312632 96329503 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619995,nssv618818,nssv617350,nssv622581 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2575268 7 96313444 96320844 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263106 S 1 0 1 "" NA18507 esv2222459 7 96313635 96320136 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571153 S 1 0 1 "" NA18507 nsv511979 7 96313681 96320074 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624523 S 1 0 1 "" 1 esv4564 7 96313805 96319991 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27005 S 1 0 1 Single Asian sample YH "" YH dgv52n47 7 96313822 96319946 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499110,nsv499371 M 9 0 2 "" esv1530383 7 96313837 96319945 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817593 S 2 0 1 "" HuRef esv9120 7 96313839 96319938 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31561 S 1 0 1 "" SJK esv2384195 7 96343286 96343764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904296 S 1 0 1 "" NA18507 esv26669 7 96343299 96351667 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18075 S 451 1 0 "" NA19257 esv2519489 7 96343482 96343559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183681 S 1 0 1 "" NA18507 esv2516604 7 96360138 96361556 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290183 S 1 0 1 "" NA18507 esv1918554 7 96360481 96361210 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4872651 S 1 0 1 "" NA18507 esv6837 7 96360691 96361006 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29278 S 1 0 1 "" SJK nsv366719 7 96360693 96361020 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385297 M 24 "" esv2610493 7 96380631 96385016 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359426 S 1 0 1 "" NA18507 esv27541 7 96381159 96384381 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18648 S 451 22 2 "" NA07037,NA07045,NA11894,NA12004,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19257 nsv824219 7 96381159 96385459 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422688,nssv1435183,nssv1427152 M 31 0 3 "" NA18552,NA18942,NA18968 nsv820518 7 96381159 96385486 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420687 S 1 0 1 "" NA10851 esv990730 7 96381235 96384289 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586774 S 3 1 0 "" HuRef esv998538 7 96381256 96381900 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587101 S 3 1 0 "" HuRef nsv820250 7 96381267 96385408 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419608 S 2 1 0 "" AK1 nsv824221 7 96458215 96507147 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428389 S 31 1 0 DLX5,DLX6,DLX6-AS1 AK10 esv1318286 7 96463309 96463363 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120340 S 2 0 1 DLX6-AS1 HuRef nsv522786 7 96548087 96554800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698430 S 2026 0 1 "" esv2593872 7 96650424 96652108 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275193 S 1 0 1 "" NA18507 esv2351360 7 96650953 96651658 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552004 S 1 0 1 "" NA18507 esv271067 7 96685028 96685113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517399 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 esv5598 7 96697460 96699664 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28039 S 1 0 0 "" SJK esv2571383 7 96732281 96733871 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268221 S 1 0 1 "" NA18507 esv2212967 7 96732467 96733125 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517039 S 1 0 1 "" NA18507 esv3200 7 96732638 96732984 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25641 S 1 0 1 Single Asian sample YH "" YH esv6988 7 96732686 96732920 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29429 S 1 0 1 "" SJK esv2560635 7 96756397 96757954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384256 S 1 0 1 "" NA18507 esv274910 7 96784305 96806264 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585532 S 1250 0 1 "" esv1001887 7 96828562 96831383 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564270 S 3 0 1 "" HuRef nsv888757 7 96841439 97299051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535866 S 6533 1 0 TAC1 MS12510 esv2443450 7 96863589 96865117 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222548 S 1 0 1 "" NA18507 nsv888758 7 96888225 97006752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600590 S 6533 0 1 "" IS41901 esv268236 7 96905436 96905779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515373,essv2515696,essv2517902,essv2516097,essv2517825,essv2516829,essv2517235,essv2519046 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12815,NA12872,NA12873,NA12878,NA12892,NA18970,NA19141 esv273289 7 96905440 96905779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582192,essv2582667 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv442059 7 97090174 97096105 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv888759 7 97121054 97260131 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527878 S 6533 1 0 TAC1 SP81060 esv21774 7 97167307 97190092 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12625 S 451 1 0 "" NA19257 nsv437559 7 97199720 97221256 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467440 S 60 0 1 Samples from several populations that are part of the HapMap project. TAC1 NA18515 nsv508473 7 97223304 97245100 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619997 S 4 0 1 "" NA15510 nsv5858 7 97223509 97261234 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11154,nssv3556 M 9 0 2 "" NA12878,NA15510 nsv6 7 97223509 97261234 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv6 S 1 0 1 "" NA15510 nsv8178 7 97224910 97241001 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14441,nssv16338,nssv15946,nssv14890,nssv16266,nssv18193,nssv16898,nssv17922 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18552,NA18564 nsv525400 7 97226206 97238835 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701523 S 2026 0 1 "" nsv511364 7 97226966 97241077 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625947 S 1 0 1 "" 1 nsv516307 7 97226966 97260862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690746,nssv675135,nssv689440,nssv674621,nssv673694,nssv653331,nssv666505,nssv663055,nssv689958,nssv652544,nssv698074,nssv675979,nssv652090,nssv678652,nssv691544,nssv678954,nssv667644,nssv655293,nssv682716,nssv671032,nssv679513,nssv693884,nssv672092,nssv664599,nssv680565,nssv692196,nssv686434,nssv671337,nssv667809,nssv669819,nssv689819,nssv666384,nssv676789,nssv686374,nssv668338,nssv689739,nssv652411,nssv664999,nssv670682,nssv689559,nssv675779,nssv690467,nssv656766,nssv689777,nssv652741,nssv672721,nssv684945,nssv672819,nssv661162 M 2026 0 49 "" nsv436563 7 97230101 97258347 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466390 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv819377 7 97230128 97241129 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418601 S 2 0 1 "" AK1 nsv511980 7 97232307 97240710 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624524 S 1 0 1 "" 1 nsv499098 7 97233237 97240581 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586035 S 9 0 1 "" esv2422176 7 97233396 97240411 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5039071,essv5137982,essv5050692,essv5046468,essv5027170,essv5088625,essv5115264,essv5158841,essv5120574,essv5148838,essv5062259,essv5109781,essv5054612,essv5094919,essv5128442,essv5067174,essv5021527,essv5090955,essv5123913,essv5011021,essv5085649,essv5085000,essv5097641,essv5093088,essv5042970,essv5135337,essv5035326,essv5041186,essv5090828,essv5070047,essv5155394,essv5081418,essv5121833,essv5053252,essv5053359,essv5027929,essv5074832,essv5003712,essv5092875,essv5107070,essv5051294,essv5096040,essv5148266,essv5006366,essv5128339,essv5133321,essv5138866,essv5099670,essv5061075,essv5092446,essv5149271,essv5095092,essv5064595,essv5068332,essv5098762,essv5153450,essv5052303,essv5055314,essv5098670,essv5071476,essv5120855,essv5067442,essv5050260,essv5095741,essv5082056,essv5055763,essv5056753,essv5039087,essv5130286,essv5117989,essv5096345,essv5120369,essv5095866,essv5104440,essv5048219,essv5115405,essv5105049,essv5125598,essv5134346,essv5019730,essv5041341,essv5142427,essv5046071,essv5049853,essv5064520,essv5073437,essv5143631,essv5126845,essv5057588,essv5124111,essv5085453,essv5076041,essv5023975,essv5156098,essv5032807,essv5085827,essv5039322,essv5072276,essv5131573,essv5089897,essv5136262,essv5109004,essv5124263,essv5097505,essv5075760,essv5080653,essv5081873,essv5086997,essv5063393,essv5016743,essv5144953,essv5053742,essv5062521,essv5089008,essv5048577,essv5159794,essv5051839,essv5006980,essv5158286,essv5102332,essv5010366,essv5029970,essv5133567,essv5091941,essv5146673,essv5111267,essv5034240,essv5005568,essv5002646,essv5131308,essv5070386,essv5130690,essv5114633,essv5090565,essv5066956,essv5121884,essv5124351,essv5014155,essv5034437,essv5026373,essv5073942,essv5141463,essv5082787,essv5117707,essv5160510,essv5007131,essv5147137,essv5044470,essv5060651,essv5048913,essv5023548,essv5117358,essv5079744,essv5034384,essv5141789,essv5058005,essv5087471,essv5094134,essv5122369,essv5149414,essv5145204,essv5137797,essv5080038,essv5160877,essv5110904,essv5028459,essv5011450,essv5051434,essv5119805,essv5103009,essv5069459,essv5153576,essv5075049,essv5055702,essv5015717,essv5103783,essv5025817,essv5107262,essv5029120,essv5021375,essv5021557,essv5058040,essv5159552,essv5117754,essv5117410,essv5002491,essv5121287,essv5038799,essv5145565,essv5014505,essv5055107,essv5110849,essv5076743,essv5115982,essv5034724,essv5039238,essv5012596,essv5020404,essv5066739,essv5008426,essv5058891,essv5029964,essv5008730,essv5051880,essv5075892,essv5128262,essv5120910,essv5148778,essv5055157,essv5076228,essv5061405,essv5118531,essv5142316,essv5081602,essv5151846,essv5095838,essv5114855,essv5125145,essv5125136,essv5134290,essv5085943,essv5083266,essv5132785,essv5023418,essv5143818,essv5073700,essv5074030,essv5035037,essv5109137,essv5030302,essv5111250,essv5132397,essv5148481,essv5152821,essv5079220,essv5077932,essv5081978,essv5065415,essv5095508,essv5052768,essv5021134,essv5119183,essv5149099,essv5112528,essv5123300,essv5079267,essv5132685,essv5096742,essv5101630,essv5131588,essv5137724,essv5071333,essv5074281,essv5070205,essv5101396,essv5148640,essv5092154,essv5109211,essv5065630,essv5142743,essv5060118,essv5146650,essv5152719,essv5136381,essv5030365,essv5159405,essv5033711,essv5047811,essv5004075,essv5139622,essv5094952,essv5033835,essv5018895,essv5117480,essv5103081,essv5148632,essv5055067,essv5140816,essv5142676,essv5070362,essv5063260,essv5094870,essv5053307,essv5139481,essv5060640,essv5021106,essv5070524,essv5093477,essv5010266,essv5109157,essv5105974,essv5002636 M 1184 0 292 "" NA06984,NA06995,NA07000,NA07055,NA07357,NA07435,NA10830,NA10831,NA10837,NA10838,NA10853,NA10854,NA10861,NA10863,NA11840,NA11843,NA11917,NA11931,NA11993,NA11994,NA11995,NA12003,NA12043,NA12045,NA12154,NA12155,NA12234,NA12249,NA12273,NA12341,NA12343,NA12344,NA12347,NA12400,NA12413,NA12739,NA12749,NA12750,NA12766,NA12767,NA12775,NA12778,NA12801,NA12802,NA12812,NA12814,NA12815,NA12828,NA12843,NA12864,NA12872,NA12878,NA12892,NA17966,NA17969,NA17970,NA17980,NA17981,NA17987,NA17989,NA17990,NA17995,NA17996,NA17997,NA18101,NA18102,NA18105,NA18112,NA18117,NA18127,NA18128,NA18129,NA18132,NA18133,NA18134,NA18135,NA18138,NA18140,NA18141,NA18143,NA18148,NA18149,NA18150,NA18162,NA18504,NA18508,NA18529,NA18532,NA18544,NA18545,NA18552,NA18559,NA18561,NA18564,NA18566,NA18573,NA18582,NA18592,NA18599,NA18602,NA18605,NA18609,NA18610,NA18619,NA18621,NA18622,NA18623,NA18626,NA18627,NA18628,NA18631,NA18635,NA18636,NA18637,NA18640,NA18641,NA18642,NA18643,NA18647,NA18694,NA18696,NA18702,NA18704,NA18740,NA18747,NA18749,NA18757,NA18868,NA18910,NA18911,NA18944,NA18947,NA18948,NA18954,NA18955,NA18957,NA18960,NA18966,NA18968,NA18974,NA18977,NA18991,NA18993,NA18997,NA18998,NA18999,NA19005,NA19010,NA19057,NA19059,NA19060,NA19065,NA19066,NA19067,NA19074,NA19076,NA19078,NA19080,NA19081,NA19083,NA19084,NA19088,NA19093,NA19113,NA19115,NA19121,NA19171,NA19317,NA19380,NA19381,NA19382,NA19391,NA19438,NA19651,NA19652,NA19653,NA19654,NA19660,NA19661,NA19662,NA19670,NA19671,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19719,NA19721,NA19723,NA19724,NA19725,NA19726,NA19727,NA19750,NA19751,NA19762,NA19763,NA19773,NA19774,NA19775,NA19776,NA19778,NA19780,NA19782,NA19784,NA19794,NA19795,NA19796,NA19819,NA19828,NA19834,NA20129,NA20319,NA20322,NA20342,NA20348,NA20502,NA20504,NA20505,NA20509,NA20512,NA20515,NA20524,NA20527,NA20529,NA20530,NA20531,NA20535,NA20540,NA20541,NA20544,NA20588,NA20752,NA20756,NA20768,NA20785,NA20787,NA20790,NA20792,NA20795,NA20797,NA20803,NA20804,NA20810,NA20811,NA20826,NA20828,NA20846,NA20849,NA20850,NA20861,NA20869,NA20871,NA20872,NA20875,NA20876,NA20877,NA20881,NA20882,NA20887,NA20889,NA20894,NA20898,NA20899,NA20901,NA20902,NA20906,NA20907,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21099,NA21105,NA21107,NA21111,NA21116,NA21118,NA21137,NA21141,NA21352,NA21739 esv28964 7 97233946 97240537 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17011 S 451 0 8 "" NA11931,NA11993,NA11995,NA12749,NA12828,NA12878,NA15510,NA18508 dgv1124n67 7 97234208 97241021 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824224,nsv824222,nsv824223 M 31 0 15 "" AK12,AK14,AK16,AK18,AK8,NA18552,NA18564,NA18566,NA18582,NA18592,NA18947,NA18968,NA18972,NA18997,NA18999 nsv514434 7 97234408 97240320 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627890 S 1414 0 1 "" nsv437994 7 97234645 97238934 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468982,nssv468974,nssv468987,nssv468976,nssv468972,nssv468973,nssv468985,nssv468981,nssv468984,nssv468980,nssv468977,nssv468978,nssv468979,nssv468983 M 269 0 14 Samples from several populations that are part of the HapMap project. "" NA10830,NA10831,NA10854,NA10857,NA10860,NA11840,NA11993,NA12003,NA12043,NA12154,NA12155,NA12802,NA12864,NA12872 nsv433482 7 97234803 97238835 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463363 S 9 0 1 "" NA15510 esv1549577 7 97235850 97236039 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294264 S 2 0 1 "" HuRef esv990756 7 97235854 97236042 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572970 S 3 0 1 "" HuRef nsv818541 7 97237560 97242316 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415581,nssv1415580 M 112 0 2 "" NA10830,NA12154 nsv428178 7 97240692 97485965 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451165 S 62 1 0 ASNS,MGC72080,OCM2 NA19113 dgv2118e1 7 97314220 97485965 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv475,essv19571 M 271 0 0 ASNS,MGC72080,OCM2 NA12864 esv25912 7 97340184 97416452 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16850 S 451 1 0 "" NA12239 nsv8179 7 97391527 97399345 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18593,nssv15976,nssv17952,nssv16928,nssv18261 M 31 3 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18552,NA18860,NA18972 esv32764 7 97438994 97476929 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99481 S 51 0 1 MGC72080,OCM2 22335 esv2308102 7 97439624 97440079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722534 S 1 0 1 "" NA18507 nsv8181 7 97490853 97495871 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16006 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18552 nsv819595 7 97491123 97495252 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419605 S 2 0 1 "" AK1 esv1000353 7 97491517 97501554 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563705 S 3 0 1 "" HuRef dgv1125n67 7 97493683 97495054 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824226,nsv824227,nsv824225 M 31 0 10 "" AK12,AK20,NA18537,NA18552,NA18564,NA18947,NA18949,NA18951,NA18972,NA18973 nsv824228 7 97494456 97495054 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423499 S 31 0 1 "" NA18999 nsv831066 7 97564815 97728486 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446280 S 95 0 1 BHLHA15,LMTK2,TECPR1 esv1940302 7 97607200 97607601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842117 S 1 0 1 LMTK2 NA18507 esv275549 7 97620285 97634258 CNV Complex Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585969,essv2585436 M 1250 0 0 LMTK2 nsv5859 7 97650951 97659902 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv661 S 9 1 0 LMTK2 NA19240 nsv888760 7 97654263 97802952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543502,nssv1530583 M 6533 0 2 BAIAP2L1,BHLHA15,BRI3,LMTK2,TECPR1 MS10311,MS16153 dgv7395n71 7 97667428 97682514 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888761,nsv888764 M 6533 0 2 BHLHA15,LMTK2 SP54725,SP55021 nsv888762 7 97667428 97691120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509893 S 6533 0 1 BHLHA15,LMTK2,TECPR1 SP54956 nsv888763 7 97667428 97704227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510743 S 6533 0 1 BHLHA15,LMTK2,TECPR1 SP54988 nsv888765 7 97672322 97691120 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515930 S 6533 1 0 BHLHA15,LMTK2,TECPR1 SP56313 nsv525934 7 97691120 97704227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702140 S 2026 0 1 TECPR1 nsv831067 7 97698105 97903464 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446281 S 95 0 1 BAIAP2L1,BRI3,TECPR1 nsv512916 7 97709656 97709933 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625563 S 1 1 0 TECPR1 1 esv275000 7 97723661 97725933 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585411 S 1250 0 1 "" nsv888766 7 97813478 97961816 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561450 S 6533 1 0 BAIAP2L1 MS24997 nsv5860 7 97833875 97866036 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8404 S 9 0 1 BAIAP2L1 NA12156 esv1113502 7 97860267 97860429 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610701 S 2 0 1 BAIAP2L1 HuRef esv27479 7 97867425 97867986 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20115 S 451 1 0 BAIAP2L1 NA12044 esv6989 7 97920766 97921092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29430 S 1 0 1 "" SJK nsv365794 7 97920776 97921100 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384372 M 24 "" nsv5861 7 98007668 98016634 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8405 S 9 1 0 "" NA12156 esv2459925 7 98014947 98015881 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235746 S 1 1 0 "" NA18507 esv1185943 7 98015393 98015393 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3700534 S 2 1 0 "" HuRef esv2429419 7 98028097 98028424 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340132 S 1 0 1 "" NA18507 esv2647844 7 98035435 98036276 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206192 S 1 1 0 "" NA18507 esv2526423 7 98065610 98069398 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184316 S 1 0 1 "" NA18507 esv2407518 7 98066298 98068887 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4873317 S 1 0 1 "" NA18507 esv25540 7 98066347 98068987 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11670,esv15658 M 451 27 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12776,NA12878,NA15510,NA18508,NA18511,NA18523,NA18858,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821027 7 98066347 98068987 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420688 S 1 0 1 "" NA10851 nsv509215 7 98180965 98267789 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623515,nssv620885,nssv619494 M 4 3 0 "" NA10860,NA15510,NA18994 nsv5862 7 98220551 98230727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv662,nssv2675,nssv3557 M 9 3 0 "" NA12878,NA18555,NA19240 esv1007330 7 98224732 98225530 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564656 S 3 1 0 "" HuRef esv1004595 7 98245640 98249938 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564340 S 3 1 0 "" HuRef esv259638 7 98276126 98276384 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393743,essv2394326 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1000668 7 98276178 98276178 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582864 S 3 1 0 "" HuRef esv8234 7 98276352 98276444 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30675 S 1 1 0 "" SJK nsv819767 7 98449849 98450528 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419053 S 2 1 0 "" AK1 nsv366204 7 98498775 98498849 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384782 M 24 SMURF1 esv2621233 7 98551558 98552823 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234602 S 1 0 1 SMURF1 NA18507 esv25445 7 98578067 98579221 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18348 S 451 1 0 SMURF1 NA06985 esv268898 7 98592521 98592606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514558 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 dgv828n27 7 98593208 98626525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464646,nsv464645 M 1557 0 2 KPNA7 HGDP01412,HGDP01418 nsv528070 7 98597053 98604866 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704606 S 2026 0 1 "" nsv509216 7 98599359 98667203 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620886,nssv619495,nssv623516 M 4 3 0 KPNA7 NA10860,NA15510,NA18994 esv2623610 7 98616231 98616380 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185989 S 1 0 1 KPNA7 NA18507 nsv831068 7 98657508 98844417 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446286,nssv1446287,nssv1446285,nssv1446283,nssv1446282 M 95 0 5 ARPC1A,ARPC1B,MYH16,PDAP1 nsv5863 7 98785064 98808746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10568 S 9 1 0 ARPC1A NA18956 nsv831069 7 98786064 98965520 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446288,nssv1446289,nssv1446291,nssv1446290 M 95 0 4 ARPC1A,ARPC1B,ATP5J2,ATP5J2-PTCD1,BUD31,CPSF4,PDAP1,PTCD1,ZKSCAN5,ZNF394,ZNF789 nsv5864 7 98847239 98879132 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6152 S 9 1 0 ATP5J2-PTCD1,BUD31,CPSF4,PTCD1 NA12156 dgv7396n71 7 98855768 98890364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888767,nsv888768 M 6533 0 2 ATP5J2-PTCD1,CPSF4,PTCD1 SP57553,SP81005 dgv7397n71 7 98856520 98879684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888770,nsv888769 M 6533 0 2 ATP5J2-PTCD1,CPSF4,PTCD1 SP54956,SP55021 nsv824229 7 98968130 98968897 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429910 S 31 0 1 ZKSCAN5 AK14 nsv819741 7 98968784 98969551 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419082 S 2 1 0 ZKSCAN5 AK1 esv2507396 7 98983949 98984834 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315255 S 1 1 0 FAM200A NA18507 esv2554756 7 99020473 99034324 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228298 S 1 0 1 LOC100289187 NA18507 nsv824230 7 99028553 99032393 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424302 S 31 0 1 "" NA18582 nsv821509 7 99028553 99032651 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420689 S 1 0 1 "" NA10851 nsv824232 7 99029817 99032651 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432140 S 31 1 0 "" AK20 esv3669 7 99040726 99041256 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26110 S 1 0 1 Single Asian sample YH LOC100289187 YH nsv5865 7 99092357 99125669 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2676 S 9 1 0 CYP3A5 NA18555 esv2619613 7 99110731 99111774 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168670 S 1 1 0 CYP3A5 NA18507 nsv888771 7 99132698 99193214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536342 S 6533 0 1 CYP3A4,CYP3A7 MS12722 nsv522107 7 99138694 99152922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694132 S 2026 0 1 CYP3A7 esv8941 7 99148562 99148660 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31382 S 1 1 0 CYP3A7 SJK esv29839 7 99160765 99165130 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12642 S 451 0 1 CYP3A7 NA19108 nsv482109 7 99192540 99219744 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558470 S 1 1 0 CYP3A4 KB1 esv29538 7 99299387 99301483 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16723 S 451 0 11 CYP3A43 NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19225,NA19240 nsv888772 7 99371114 99440127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554559 S 6533 0 1 AZGP1,AZGP1P1 MS20857 nsv824233 7 99391507 99408936 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432142 S 31 0 1 AZGP1 AK20 nsv824234 7 99391670 99423360 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433685 S 31 0 1 AZGP1,AZGP1P1 NA18592 nsv433391 7 99401897 99456542 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463272 S 9 1 0 AZGP1,AZGP1P1,ZKSCAN1 NA15510 esv23518 7 99402069 99463347 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19900 S 451 1 0 AZGP1,AZGP1P1,ZKSCAN1 NA15510 esv32694 7 99403544 99467855 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101467,essv98767,essv97531,essv101143,essv93903,essv96755,essv100975,essv95210,essv98166,essv94764,essv93981,essv101351,essv94428,essv96990,essv95642,essv95524,essv93115,essv95324,essv101687,essv95779,essv94586,essv99120,essv92998,essv92739,essv93633,essv96659,essv98643,essv100098,essv95995,essv93583,essv93229,essv99603,essv92660,essv98038,essv99278,essv97628,essv100168,essv100421,essv98504,essv96270,essv94144 M 51 0 41 AZGP1,AZGP1P1,ZKSCAN1 21603,21606,21616,21618,21634,21659,21693,21721,21772,21791,21802,21805,21808,21817,21841,21847,21863,21872,21909,21911,21932,21938,21939,21944,21972,22011,22085,22086,22127,22128,22170,22217,22233,22259,22275,22278,22286,22300,22352,22371,22394 nsv469687 7 99410479 99593077 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649618 M 265 0 4 Samples from several populations that are part of the HapMap project. AP4M1,AZGP1,AZGP1P1,C7orf43,C7orf59,CNPY4,COPS6,MBLAC1,MCM7,MIR106B,MIR25,MIR4658,MIR93,TAF6,ZKSCAN1,ZNF3,ZSCAN21 nsv510966 7 99412956 99535759 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621600 S 4 0 0 AZGP1P1,COPS6,MCM7,MIR106B,MIR25,MIR93,ZKSCAN1,ZNF3,ZSCAN21 NA15510 esv272121 7 99433996 99437659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515936 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 nsv819817 7 99472914 99473846 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419125 S 2 0 1 ZKSCAN1 AK1 nsv507405 7 99484001 99490001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617744 S 4 1 0 ZSCAN21 CHM nsv824235 7 99548388 99549047 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432143 S 31 1 0 TAF6 AK20 nsv428180 7 99588917 99798836 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451170,nssv451168,nssv451169 M 62 3 0 C7orf43,C7orf59,GAL3ST4,GATS,GPC2,MIR4658,PILRB,PMS2P1,PVRIG,SPDYE3,STAG3 HGDP00449,NA19147,NA19257 nsv888773 7 99589530 99610234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509895 S 6533 0 1 C7orf43,C7orf59,GAL3ST4,GPC2,MIR4658 SP54956 nsv5867 7 99604710 99637691 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6153 S 9 0 1 GATS,GPC2,STAG3 NA12156 nsv8182 7 99637752 99717717 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18794,nssv16023,nssv18223,nssv16368,nssv15542,nssv19470,nssv15885,nssv15656,nssv16599 M 31 9 0 Samples from several populations that are part of the HapMap project. GATS,PVRIG,STAG3 NA07029,NA07048,NA12740,NA18504,NA18517,NA18537,NA18564,NA19007,NA19221 nsv888774 7 99645201 99789251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588146 S 6533 1 0 GATS,PILRB,PMS2P1,PVRIG,SPDYE3,STAG3 IS38166 esv26986 7 99647313 99775283 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16361,esv16057 M 451 12 0 GATS,PILRB,PMS2P1,PVRIG,SPDYE3,STAG3 NA12239,NA12776,NA18505,NA18523,NA18858,NA18861,NA18907,NA19099,NA19108,NA19114,NA19147,NA19257 nsv436898 7 99656127 99777324 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466391 S 2 1 0 Samples from several populations that are part of the HapMap project. GATS,PILRB,PMS2P1,PVRIG,SPDYE3 NA18505 nsv8183 7 99734510 99774577 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18291,nssv15572,nssv15967,nssv18623 M 31 2 2 Samples from several populations that are part of the HapMap project. PILRB,PMS2P1,SPDYE3 NA07029,NA11830,NA18860,NA18972 esv1305604 7 99745229 99748005 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4331624 S 2 0 1 SPDYE3 HuRef nsv831071 7 99755961 99951349 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446298,nssv1446292,nssv1446293,nssv1446297,nssv1446294 M 95 0 5 C7orf47,C7orf51,C7orf61,MEPCE,PILRA,PILRB,PMS2P1,SPDYE3,TSC22D4,ZCWPW1 nsv888775 7 99778243 99799130 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513259 S 6533 0 1 PILRB SP55699 esv270384 7 99788812 99788897 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517129 S 157 1 0 Samples from several populations that are part of the HapMap project. PILRB hapmap_pooled_sample_set nsv819923 7 99844866 99845028 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418659 S 2 0 1 ZCWPW1 AK1 nsv527107 7 99852647 99902655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703487 S 2026 0 1 C7orf47,C7orf61,MEPCE,TSC22D4,ZCWPW1 dgv7398n71 7 99852647 100074529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888778,nsv888776,nsv888782,nsv888777,nsv888780 M 6533 0 6 AGFG2,C7orf47,C7orf51,C7orf61,FBXO24,LOC100129845,LRCH4,MEPCE,MOSPD3,PCOLCE,SAP25,TFR2,TSC22D4,ZCWPW1 IS32737,IS32841,IS34304,IS39233,MS16153,MS18276 nsv888779 7 99852647 100151356 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565157 S 6533 0 1 ACTL6B,AGFG2,C7orf47,C7orf51,C7orf61,FBXO24,GIGYF1,GNB2,LOC100129845,LRCH4,MEPCE,MOSPD3,PCOLCE,POP7,SAP25,TFR2,TSC22D4,ZCWPW1 IS30369 nsv518432 7 99894102 99902655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695866 S 2026 0 1 C7orf61,TSC22D4 nsv527050 7 99894102 99963911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703426 S 2026 0 1 C7orf51,C7orf61,TSC22D4 nsv888781 7 99898864 99935831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510744 S 6533 0 1 C7orf51,C7orf61,TSC22D4 SP54988 nsv888783 7 99911228 99974177 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509896 S 6533 0 1 C7orf51,TSC22D4 SP54956 nsv888784 7 99914550 99935831 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505968 S 6533 0 1 C7orf51,TSC22D4 SP54043 nsv518760 7 99948260 99957579 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696210 S 2026 0 1 "" nsv522427 7 99948260 99957579 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705780 S 2026 1 0 "" dgv7399n71 7 99979797 100151356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888786,nsv888785 M 6533 0 3 ACTL6B,AGFG2,FBXO24,GIGYF1,GNB2,LOC100129845,LRCH4,MOSPD3,PCOLCE,POP7,SAP25,TFR2 IS37646,MS10311,MS10769 dgv7400n71 7 99999493 100024002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888787,nsv888788 M 6533 0 2 AGFG2,FBXO24,LRCH4,SAP25 SP54956,SP54988 nsv831072 7 100000439 100200771 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446305,nssv1446301,nssv1446304,nssv1446309,nssv1446308,nssv1446306,nssv1446299,nssv1446302,nssv1446303,nssv1446300,nssv1446310 M 95 0 11 ACTL6B,AGFG2,EPO,FBXO24,GIGYF1,GNB2,LOC100129845,LRCH4,MOSPD3,PCOLCE,POP7,SAP25,TFR2,ZAN nsv888789 7 100004521 100016851 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507462,nssv1505969 M 6533 0 2 LRCH4,SAP25 SP54043,SP54725 nsv5868 7 100007934 100052582 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8406 S 9 0 1 FBXO24,LOC100129845,LRCH4,MOSPD3,PCOLCE,SAP25 NA12156 nsv888790 7 100038610 100070323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509439 S 6533 1 0 LOC100129845,MOSPD3,PCOLCE,TFR2 SP54790 nsv888791 7 100059803 100209050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552766 S 6533 0 1 ACTL6B,EPO,GIGYF1,GNB2,POP7,TFR2,ZAN MS19630 nsv470381 7 100078127 100269916 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546098 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACTL6B,EPHB4,EPO,GIGYF1,GNB2,POP7,ZAN HGDP00546 nsv8184 7 100078673 100183881 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15997,nssv15904 M 31 0 2 Samples from several populations that are part of the HapMap project. ACTL6B,EPO,GIGYF1,GNB2,POP7,ZAN NA10839,NA11830 nsv888792 7 100090854 100167125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509898 S 6533 0 1 ACTL6B,EPO,GIGYF1,GNB2,POP7 SP54956 dgv7401n71 7 100104017 100121197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888794,nsv888793 M 6533 0 2 GIGYF1,GNB2 SP54672,SP54725 nsv888795 7 100104017 100136562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510746,nssv1511386 M 6533 0 2 GIGYF1,GNB2 SP54988,SP55021 nsv365346 7 100113859 100113956 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383924 M 24 GNB2 nsv819414 7 100124474 100124923 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418956 S 2 0 1 GIGYF1 AK1 nsv888796 7 100151356 100261301 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538616 S 6533 0 1 EPHB4,EPO,ZAN MS13770 esv33610 7 100162810 100175020 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101547,essv98816,essv101272,essv95134,essv98212,essv94814,essv94400,essv97068,essv95629,essv95506,essv93110,essv95309,essv101679,essv95906,essv93001,essv93673,essv96635,essv96037,essv93521,essv93250,essv99711,essv92551,essv97989,essv97690,essv100157,essv100432,essv98502,essv96286,essv94146 M 51 25 4 ZAN 21603,21606,21618,21721,21772,21791,21808,21817,21841,21847,21863,21872,21909,21911,21939,21972,22011,22127,22128,22170,22217,22233,22259,22278,22286,22300,22352,22371,22394 nsv5869 7 100163661 100185276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6155,nssv663 M 9 0 2 ZAN NA12156,NA19240 nsv436558 7 100165278 100178992 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466392 S 2 0 1 Samples from several populations that are part of the HapMap project. ZAN NA18505 nsv499699 7 100165508 100178667 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586036 S 9 0 1 ZAN dgv1126n67 7 100165750 100175191 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824236,nsv824238,nsv824237 M 31 0 7 ZAN AK14,AK2,NA18564,NA18570,NA18582,NA18592,NA18949 esv22712 7 100165798 100181151 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15759 S 451 0 15 ZAN NA06985,NA07037,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA15510,NA18505,NA18511,NA18861,NA19225,NA19240 nsv442074 7 100167180 100170778 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ZAN nsv514435 7 100170224 100171368 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627891 S 1414 0 1 ZAN esv2337044 7 100174274 100174634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962549 S 1 0 1 ZAN NA18507 esv2648192 7 100175041 100178938 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355642 S 1 0 1 ZAN NA18507 esv2145665 7 100175695 100178643 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798258 S 1 0 1 ZAN NA18507 esv33833 7 100179614 100181128 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101458,essv95713,essv95415,essv92848 M 51 0 4 ZAN 21603,21841,21847,21939 dgv2119e1 7 100193426 100535966 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv326,essv1920 M 271 0 0 ACHE,EPHB4,MUC12,MUC17,SLC12A9,SRRT,TRIM56,TRIP6,UFSP1,ZAN NA18959 dgv7402n71 7 100224836 100319962 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888797,nsv888798 M 6533 0 2 EPHB4,SLC12A9,SRRT,TRIP6,ZAN IS33630,MS16153 dgv7403n71 7 100244080 100335067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888801,nsv888799 M 6533 0 2 ACHE,EPHB4,SLC12A9,SRRT,TRIP6,UFSP1 IS32737,MS10698 nsv888800 7 100249214 100274382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509899 S 6533 0 1 EPHB4 SP54956 nsv831073 7 100263595 100382824 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446311 S 95 0 1 ACHE,SLC12A9,SRRT,TRIP6,UFSP1 nsv5870 7 100281265 100310703 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8407 S 9 1 0 SLC12A9,SRRT,TRIP6 NA12156 dgv7404n71 7 100322853 100335993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888803,nsv888805,nsv888802 M 6533 0 3 ACHE,SRRT,UFSP1 SP54725,SP54956,SP54988 dgv7405n71 7 100324690 100333466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888804,nsv888806 M 6533 0 2 ACHE,UFSP1 SP51109,SP54043 nsv482110 7 100325552 100331477 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558471 S 1 1 0 ACHE KB1 dgv7406n71 7 100328013 100335993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888808,nsv888807 M 6533 0 2 ACHE SP55021,SP81010 dgv7407n71 7 100329387 100333466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888810,nsv888814,nsv888813,nsv888809 M 6533 0 6 ACHE SP54042,SP54750,SP54967,SP55019,SP55056,SP55318 dgv7408n71 7 100330063 100335993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888815,nsv888811,nsv888812 M 6533 0 4 ACHE SP54225,SP54593,SP54657,SP54672 nsv8185 7 100370670 100376903 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15602,nssv15934 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839 nsv437026 7 100371758 100397492 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466907 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv513677 7 100385723 100403126 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626929 S 1 0 0 MUC12 1 nsv511361 7 100386896 100391242 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625913 S 1 0 1 "" 1 esv24512 7 100386920 100402171 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16826,esv12703 M 451 0 3 MUC12 NA11931,NA18511,NA19108 nsv824239 7 100387257 100402879 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431410 S 31 1 0 MUC12 AK18 nsv819208 7 100387807 100389886 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419380 S 2 0 1 "" AK1 esv8342 7 100388667 100388737 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30783 S 1 1 0 "" SJK esv6119 7 100388771 100389088 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28560 S 1 0 1 "" SJK esv2535777 7 100391448 100392336 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252542 S 1 1 0 "" NA18507 esv1312787 7 100392033 100392033 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617813 S 2 1 0 "" HuRef dgv2120e1 7 100392764 100535966 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3952,essv5058,essv7752,essv1509,essv3000,essv7075,essv35,essv3896,essv10774,essv23498,essv12372,essv5560,essv6121,essv19764,essv15222,essv576,essv7620,essv24065,essv7223,essv264,essv13675,essv24751,essv9224,essv1273,essv10982,essv21687,essv6779,essv385,essv20417,essv16976,essv8301,essv173,essv4786,essv22050,essv4902,essv17491,essv1866,essv5451,essv2302,essv12486,essv6892,essv4062,essv6263,essv4438,essv23384,essv9328,essv15431,essv17846,essv13883,essv15774,essv14194,essv10662,essv7728,essv7805,essv4564,essv14080,essv15375,essv9802,essv16556,essv9652,essv17174,essv2309,essv3821,essv4428,essv8816,essv7429,essv19680,essv244,essv21972,essv2002,essv1160,essv2840,essv11153,essv797,essv3768,essv3555,essv6639,essv2631,essv9459,essv3076,essv6005,essv15454,essv21251,essv10338 M 271 0 0 MUC12,MUC17,TRIM56 NA07034,NA10830,NA10831,NA10835,NA10855,NA10859,NA10860,NA11995,NA12154,NA12248,NA12264,NA12750,NA12762,NA18505,NA18506,NA18508,NA18523,NA18524,NA18529,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18558,NA18561,NA18562,NA18571,NA18573,NA18576,NA18605,NA18620,NA18621,NA18623,NA18632,NA18633,NA18635,NA18636,NA18853,NA18854,NA18855,NA18861,NA18862,NA18863,NA18913,NA18940,NA18943,NA18948,NA18949,NA18951,NA18953,NA18956,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18976,NA18978,NA18980,NA18981,NA18991,NA18994,NA18995,NA18998,NA19094,NA19103,NA19119,NA19128,NA19131,NA19140,NA19143,NA19144,NA19171,NA19203,NA19207,NA19208,NA19210,NA19211,NA19238 nsv428181 7 100392764 100535966 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451181,nssv451182,nssv451180,nssv451179,nssv451177,nssv451176,nssv451178 M 62 6 1 MUC12,MUC17,TRIM56 HGDP00471,HGDP00476,HGDP01086,HGDP01088,HGDP01093,NA18498,NA19113 nsv831074 7 100392771 100532252 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446313,nssv1446312 M 95 0 2 MUC12,MUC17,TRIM56 nsv8186 7 100394843 100397959 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18653,nssv16629,nssv16958,nssv18253,nssv16053,nssv16398 M 31 5 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA12155,NA12740,NA18504,NA18564,NA18972 esv2352474 7 100395725 100396181 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598384 S 1 0 1 "" NA18507 esv2288392 7 100397570 100398003 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751518 S 1 0 1 "" NA18507 esv2284115 7 100397729 100398150 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800288 S 1 0 1 "" NA18507 nsv511981 7 100398608 100401217 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624525 S 1 0 1 MUC12 1 nsv513678 7 100402482 100406009 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626930 S 1 0 0 MUC12 1 nsv5871 7 100409756 100429200 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3558,nssv664,nssv11155,nssv6156,nssv2677,nssv5007,nssv9720 M 9 7 0 MUC12 NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 nsv7 7 100410642 100425652 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv7 S 1 1 0 MUC12 NA15510 nsv820330 7 100417667 100443076 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420690 S 1 1 0 MUC12 NA10851 esv1007842 7 100419320 100436724 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563479 S 3 1 0 MUC12 HuRef esv24638 7 100419557 100436582 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19065,esv12068 M 451 1 14 MUC12 NA11993,NA11995,NA12156,NA12287,NA12749,NA12776,NA18505,NA18508,NA18511,NA18523,NA18861,NA18907,NA19099,NA19108,NA19257 nsv824240 7 100419557 100436582 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440443,nssv1435945,nssv1437521,nssv1435184,nssv1429912,nssv1422691,nssv1432144,nssv1427569,nssv1434497,nssv1426775,nssv1423500,nssv1433707,nssv1438240,nssv1438921,nssv1440774,nssv1429165,nssv1431411,nssv1441158,nssv1425854,nssv1421802,nssv1427174,nssv1428390,nssv1427573,nssv1436733,nssv1439758,nssv1424304,nssv1430669,nssv1432961,nssv1425070,nssv1433743 M 31 30 0 MUC12 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv8187 7 100420461 100434712 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18321,nssv16408 M 31 1 1 Samples from several populations that are part of the HapMap project. MUC12 NA18860,NA19144 esv1426303 7 100425739 100434238 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845471 S 2 0 1 MUC12 HuRef nsv5872 7 100429862 100460936 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5008,nssv10569,nssv9721,nssv11156,nssv2678,nssv10570,nssv9443,nssv6157,nssv3559,nssv665 M 9 9 0 MUC12,MUC17 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv8 7 100430303 100448907 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv8 S 1 1 0 MUC12 NA15510 esv23580 7 100460088 100473705 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11177 S 451 6 0 MUC17 NA06985,NA12044,NA12878,NA15510,NA18916,NA19240 nsv820525 7 100460088 100473705 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420692 S 1 1 0 MUC17 NA10851 nsv8188 7 100461941 100472079 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15686 S 31 1 0 Samples from several populations that are part of the HapMap project. MUC17 NA19007 nsv366275 7 100466502 100467914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384853 M 24 MUC17 nsv366400 7 100468031 100471213 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384978 M 24 MUC17 nsv5873 7 100470375 100504469 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8408 S 9 1 0 MUC17 NA12156 nsv831075 7 100479017 100703738 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446314 S 95 0 1 AP1S1,C7orf52,CLDN15,FIS1,MIR4653,MOGAT3,MUC17,PLOD3,SERPINE1,TRIM56,VGF,ZNHIT1 nsv5874 7 100520768 100531192 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8409 S 9 0 1 "" NA12156 esv2422376 7 100530205 100803191 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161402 S 181 1 0 AP1S1,C7orf52,CLDN15,EMID2,FIS1,MIR4653,MOGAT3,PLOD3,RABL5,SERPINE1,VGF,ZNHIT1 ND00940 esv2551459 7 100570215 100570292 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229125 S 1 0 1 "" NA18507 nsv366519 7 100579119 100579470 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385097 M 24 "" dgv7409n71 7 100579530 100668360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888817,nsv888816 M 6533 0 2 AP1S1,C7orf52,CLDN15,MIR4653,MOGAT3,PLOD3,VGF,ZNHIT1 IS39233,IS39417 esv2752134 7 100586851 100928587 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988753,essv6984088,essv6984089 M 771 1 0 AP1S1,C7orf52,CLDN15,EMID2,FIS1,MIR4653,MOGAT3,PLOD3,RABL5,VGF,ZNHIT1 BEC_768 nsv824241 7 100592089 100597514 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433744 S 31 1 0 VGF NA18526 nsv831076 7 100615567 100798394 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446315 S 95 0 1 CLDN15,EMID2,FIS1,MOGAT3,PLOD3,RABL5,ZNHIT1 dgv7410n71 7 100619873 100706727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888819,nsv888818 M 6533 0 2 CLDN15,FIS1,MOGAT3,PLOD3,ZNHIT1 MS17208,MS18276 esv2422326 7 100620169 100786851 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161511 S 181 1 0 CLDN15,FIS1,MOGAT3,PLOD3,RABL5,ZNHIT1 ND04296 nsv5875 7 100657054 100689694 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv666 S 9 1 0 CLDN15,FIS1 NA19240 nsv831077 7 100660929 100870650 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446317,nssv1446316 M 95 0 2 CLDN15,EMID2,FIS1,RABL5 dgv236e55 7 100719050 100929979 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752136,esv2752135,esv2752137 M 771 3 0 EMID2,RABL5 BEC_385,BEC_397,SPC_162 nsv517175 7 100747270 100925006 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690355,nssv699013,nssv682947,nssv653929,nssv669413,nssv655821,nssv657484,nssv683845,nssv654834,nssv676672,nssv672877,nssv674619,nssv674463,nssv684187,nssv682120,nssv664223,nssv678637 M 2026 13 4 EMID2,RABL5 dgv829n27 7 100755083 100914175 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464657,nsv464655,nsv464654,nsv464653,nsv464656 M 1557 5 0 EMID2 1780854465_A,1780854477_A,HGDP01065,NINDS_195,NINDS_88 esv2465598 7 100785320 100791266 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226955 S 1 0 1 "" NA18507 esv994295 7 100786079 100790913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563532 S 3 0 1 "" HuRef esv1271320 7 100787122 100787122 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338455 S 2 1 0 "" HuRef esv2536155 7 100787445 100791327 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218817 S 1 0 1 "" NA18507 esv26989 7 100787549 100799680 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11260,esv14417 M 451 0 2 EMID2 NA11931,NA12006 nsv511982 7 100787750 100790642 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624526 S 1 0 1 "" 1 nsv366777 7 100817763 100818571 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385355 M 24 EMID2 nsv888820 7 100832300 100924034 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583750 S 6533 1 0 EMID2 IS36647 esv1010932 7 100843119 100853313 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564417 S 3 0 1 EMID2 HuRef nsv511983 7 100845631 100847015 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624527 S 1 0 1 EMID2 1 esv999577 7 100845878 100846986 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583318 S 3 0 1 EMID2 HuRef esv1729362 7 100847611 100847675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228382 S 2 0 1 EMID2 HuRef esv1000049 7 100867896 100875985 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565492 S 3 0 1 EMID2 HuRef dgv7411n71 7 100878190 101117454 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888822,nsv888824,nsv888821 M 6533 4 0 EMID2,MYL10 IS36183,IS37968,IS38544,MS14330 nsv831078 7 100881665 101044206 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446320,nssv1446319,nssv1446321 M 95 0 3 EMID2,MYL10 nsv888823 7 100895793 100961685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525044 S 6533 0 1 EMID2 SP55470 esv22098 7 100905224 100905705 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20085 S 451 0 1 EMID2 NA18523 nsv888825 7 100955003 101117454 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567374 S 6533 1 0 EMID2,MYL10 IS31070 nsv5876 7 100970416 100995638 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3560 S 9 1 0 EMID2 NA12878 nsv818542 7 100989560 100995663 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417208 S 112 0 1 "" NA18558 nsv888826 7 101017488 101064054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543505 S 6533 0 1 MYL10 MS16153 esv2158971 7 101039523 101039954 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4882026 S 1 0 1 "" NA18507 nsv831079 7 101060215 101253496 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446325,nssv1446323,nssv1446322,nssv1446326,nssv1446324,nssv1446327 M 95 0 6 CUX1 nsv509217 7 101105911 101184375 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620887 S 4 1 0 "" NA15510 nsv511984 7 101119605 101122096 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624528 S 1 0 1 "" 1 esv2458495 7 101120336 101122064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370868 S 1 0 1 "" NA18507 esv2079390 7 101120715 101121441 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564457 S 1 0 1 "" NA18507 esv1641845 7 101120931 101121251 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753633 S 2 0 1 "" HuRef esv5647 7 101120941 101121238 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28088 S 1 0 1 "" SJK esv1060462 7 101146746 101146746 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097766 S 2 1 0 "" HuRef esv2534796 7 101168255 101171096 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250219 S 1 0 1 "" NA18507 nsv824243 7 101231922 101266371 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436734 S 31 1 0 CUX1 NA18542 nsv824244 7 101239284 101251061 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426776 S 31 1 0 CUX1 AK6 nsv824245 7 101241852 101248671 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421803 S 31 1 0 CUX1 NA18997 esv29675 7 101243914 101247516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20678 S 451 0 1 CUX1 NA18511 nsv824246 7 101244550 101248136 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433745 S 31 1 0 CUX1 NA18526 nsv521041 7 101244864 101283111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697750 S 2026 0 1 CUX1 nsv526147 7 101283111 101284169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702405 S 2026 0 1 CUX1 nsv5878 7 101338729 101373824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv667 S 9 1 0 CUX1 NA19240 nsv888827 7 101349394 101437022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522908 S 6533 1 0 CUX1 SP53503 nsv831080 7 101415841 101595347 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446328 S 95 0 1 CUX1 nsv8189 7 101468215 101471985 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16469 S 31 1 0 Samples from several populations that are part of the HapMap project. CUX1 NA19173 esv995309 7 101489714 101490298 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564221 S 3 1 0 CUX1 HuRef nsv510103 7 101498298 101504298 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624043,nssv621318 M 4 0 2 CUX1 NA15510,NA18994 nsv508474 7 101508612 101539376 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618819 S 4 0 1 CUX1 NA10860 nsv821048 7 101511011 101514335 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420693 S 1 0 1 CUX1 NA10851 esv24041 7 101511108 101514218 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11648 S 451 21 0 CUX1 NA07037,NA07045,NA11894,NA12006,NA12287,NA12878,NA15510,NA18505,NA18508,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv509218 7 101576933 101765183 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620888 S 4 1 0 CUX1,MIR4285,SH2B2 NA15510 nsv831082 7 101592820 101774848 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446330 S 95 1 0 CUX1,MIR4285,SH2B2,SPDYE6 esv988391 7 101592901 101597268 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563640 S 3 0 1 CUX1 HuRef nsv824247 7 101679698 101680191 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437522 S 31 1 0 CUX1 NA18949 dgv2121e1 7 101687460 101859452 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10048,essv17023,esv313 M 271 0 0 CUX1,LOC100289561,LOC100630923,MIR4285,PRKRIP1,SH2B2,SPDYE6 NA19099,NA19144 nsv428182 7 101687460 102163186 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451209,nssv451196,nssv451187,nssv451185,nssv451195,nssv451192,nssv451188,nssv451189,nssv451194,nssv451205,nssv451198,nssv451203,nssv451201,nssv451207,nssv451204,nssv451190,nssv451193,nssv451202,nssv451206,nssv451184,nssv451200,nssv451199,nssv451191 M 62 23 0 ALKBH4,CUX1,LOC100289561,LOC100630923,LRWD1,MIR4285,MIR4467,ORAI2,POLR2J,POLR2J2,POLR2J3,PRKRIP1,RASA4,SH2B2,SPDYE2,SPDYE2L,SPDYE6,UPK3BL HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19108,NA19147,NA19181,NA19189,NA19225,NA19257 esv1633410 7 101690353 101690353 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646358 S 2 1 0 CUX1 HuRef nsv888828 7 101708009 101726479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510748 S 6533 0 1 CUX1,MIR4285,SH2B2 SP54988 nsv888829 7 101713508 101733105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507760 S 6533 0 1 CUX1,MIR4285,SH2B2 SP54725 nsv888830 7 101713508 101744238 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511388 S 6533 0 1 CUX1,MIR4285,SH2B2 SP55021 esv998770 7 101741204 101744245 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563601 S 3 1 0 SH2B2 HuRef esv1453362 7 101742298 101742298 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659048 S 2 1 0 SH2B2 HuRef esv26209 7 101758653 101790841 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9986,esv20677 M 451 16 0 SPDYE6 NA12414,NA12489,NA12749,NA18505,NA18508,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 nsv8190 7 101760090 101786296 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17041,nssv16988,nssv16468,nssv18683,nssv14471,nssv15955,nssv15202,nssv16027,nssv18351 M 31 8 1 Samples from several populations that are part of the HapMap project. SPDYE6 NA11830,NA12155,NA12872,NA18860,NA18942,NA18972,NA18980,NA19144,NA19240 nsv831083 7 101767725 102083105 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446343,nssv1446358,nssv1446376,nssv1446374,nssv1446342,nssv1446339,nssv1446375,nssv1446341,nssv1446349,nssv1446348,nssv1446345,nssv1446346,nssv1446357,nssv1446354,nssv1446353,nssv1446352,nssv1446356,nssv1446355,nssv1446372,nssv1446338,nssv1446371,nssv1446334,nssv1446347,nssv1446364,nssv1446350,nssv1446363,nssv1446360,nssv1446359,nssv1446333,nssv1446332,nssv1446361,nssv1446331,nssv1446344,nssv1446367,nssv1446335,nssv1446366,nssv1446337,nssv1446365,nssv1446336,nssv1446370,nssv1446368,nssv1446369 M 95 0 42 ALKBH4,LOC100289561,LOC100630923,LRWD1,MIR4467,ORAI2,POLR2J,POLR2J2,POLR2J3,PRKRIP1,RASA4,SPDYE2,SPDYE2L,SPDYE6,UPK3BL nsv464664 7 101812662 101900914 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540541 S 1557 1 0 ALKBH4,LOC100630923,LRWD1,MIR4467,ORAI2,POLR2J,PRKRIP1 NINDS_222 nsv464665 7 101812662 101900914 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540542 S 1557 0 1 ALKBH4,LOC100630923,LRWD1,MIR4467,ORAI2,POLR2J,PRKRIP1 NINDS_70 dgv7412n71 7 101869291 102121342 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888850,nsv888851,nsv888833,nsv888831,nsv888849,nsv888847 M 6533 0 8 ALKBH4,LRWD1,MIR4467,ORAI2,POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS33684,IS39113,IS39205,MS10311,MS18979,SP56841,SP57013,SP80977 esv259612 7 101872413 101872702 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394235,essv2393754,essv2394366 M 6 0 0 Samples from several populations that are part of the HapMap project. ORAI2 NA12878,NA19238,NA19240 esv260065 7 101872442 101872724 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397263,essv2395652,essv2397664,essv2399213,essv2400944,essv2398829,essv2394633,essv2394890,essv2395468,essv2398158,essv2397149,essv2395209,essv2394830,essv2396418,essv2395932,essv2400548 M 144 0 0 Samples from several populations that are part of the HapMap project. ORAI2 NA12878,NA18501,NA18502,NA18508,NA18547,NA18582,NA18870,NA18942,NA18948,NA18949,NA18951,NA19108,NA19114,NA19138,NA19238,NA19240 nsv888832 7 101874207 101970902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509901 S 6533 0 1 ALKBH4,LRWD1,MIR4467,ORAI2,POLR2J,POLR2J3 SP54956 nsv5879 7 101877773 102175039 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1679,nssv2680,nssv11157,nssv3562,nssv9723,nssv10571,nssv10572,nssv9722,nssv5010,nssv9444,nssv3563,nssv6159,nssv5011,nssv6158,nssv668,nssv670,nssv2679,nssv9910 M 9 0 9 ALKBH4,LRWD1,MIR4467,ORAI2,POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv8192 7 101878057 102120435 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16203,nssv14719,nssv14501,nssv16065,nssv18297,nssv16689,nssv16125,nssv16263,nssv16035,nssv16057,nssv18884,nssv16899,nssv16779,nssv18944,nssv18824,nssv16173,nssv16619,nssv16528,nssv15677,nssv16143,nssv14920,nssv16649,nssv16155,nssv18713,nssv18313,nssv15945,nssv17982,nssv16529,nssv16498,nssv16959,nssv16005,nssv14689,nssv16296,nssv16839,nssv17071,nssv18914,nssv16233,nssv19500,nssv16326,nssv16113,nssv17018,nssv16356,nssv15975,nssv16719,nssv14809,nssv16929,nssv16659,nssv15985,nssv16559,nssv14659,nssv16809,nssv16869,nssv16589,nssv18381,nssv19034,nssv15232,nssv18343,nssv18854,nssv15915,nssv15740,nssv19004,nssv18974,nssv14950,nssv18283,nssv16499 M 31 23 0 Samples from several populations that are part of the HapMap project. ALKBH4,LRWD1,MIR4467,ORAI2,POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL NA07048,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18563,NA18572,NA18853,NA18860,NA18942,NA18972,NA18980,NA19132,NA19144,NA19173,NA19221,NA19240 nsv824248 7 101884030 101884656 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436735 S 31 1 0 ALKBH4,ORAI2 NA18542 dgv7413n71 7 101889348 101898801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888834,nsv888835 M 6533 0 2 ALKBH4,LRWD1 SP54725,SP54988 esv27624 7 101900371 102119100 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15614 S 451 31 1 LRWD1,POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12239,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv471450 7 101900555 101906386 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548309,nssv548310,nssv548312 M 3 LRWD1,POLR2J nsv482111 7 101900555 101906386 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558472 S 1 1 0 LRWD1,POLR2J KB1 nsv888836 7 101900914 102052702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549501 S 6533 0 1 POLR2J,POLR2J3,RASA4,SPDYE2,SPDYE2L MS18255 dgv7414n71 7 101900914 102086077 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888837,nsv888846,nsv888852,nsv888839,nsv888854,nsv888856 M 6533 12 16 POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS30345,IS30372,IS30766,IS31145,IS33175,IS35788,IS35982,IS36273,MS10545,MS11741,MS13025,MS14256,MS17697,MS21218,MS24932,SP50126,SP51142,SP51489,SP53444,SP53725,SP54792,SP55401,SP57453,SP57651,SP57706,SP58209,SP58536,SP81091 dgv7415n71 7 101900914 102121342 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888859,nsv888858,nsv888842 M 6533 17 18 POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS30389,IS31166,IS32150,IS32166,IS32523,IS36320,IS37969,IS38341,IS38651,IS40635,IS40950,IS41904,MS11552,MS11821,MS13168,MS14296,MS14953,MS17739,MS17774,MS18185,MS18620,MS18993,MS19002,MS19556,MS20468,MS22112,MS22297,MS25345,SP50761,SP50954,SP51254,SP52113,SP52951,SP56794,SP57604 dgv7416n71 7 101900914 102121342 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888861,nsv888853,nsv888838,nsv888855,nsv888848,nsv888857 M 6533 7 0 POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS36752,IS38637,IS40582,IS41839,MS15923,MS18217,SP81097 dgv7417n71 7 101900914 102139865 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888841,nsv888844,nsv888840,nsv888843 M 6533 13 0 POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS30667,IS32167,IS34599,IS35127,IS35388,IS36722,IS37712,IS38217,IS41768,MS11358,MS17501,MS17730,MS18947 nsv888845 7 101900914 102185715 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592650 S 6533 1 0 FAM185A,POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS39243 dgv23n31 7 101901391 102205285 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471535,nsv471505,nsv471534,nsv471540,nsv471337 M 3 FAM185A,POLR2J,POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL nsv499529 7 101919409 102019221 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586037 S 9 0 1 POLR2J3,RASA4,SPDYE2,SPDYE2L nsv433392 7 101921012 102052702 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463273 S 9 1 0 Samples from several populations that are part of the HapMap project. POLR2J3,RASA4,SPDYE2,SPDYE2L NA19240 nsv436086 7 101927725 102020212 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466393 S 2 1 0 POLR2J3,RASA4,SPDYE2,SPDYE2L NA15510 nsv436552 7 101931149 102032618 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466394 S 2 0 1 Samples from several populations that are part of the HapMap project. POLR2J3,RASA4,SPDYE2,SPDYE2L NA18505 dgv7418n71 7 101938315 102074321 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888862,nsv888860,nsv888863,nsv888864 M 6533 5 0 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS37841,IS38270,MS16357,MS21925,SP58007 nsv888865 7 101956290 102086077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547751 S 6533 0 1 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL MS17536 dgv7419n71 7 101970902 102121342 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888878,nsv888885,nsv888866 M 6533 0 3 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS33248,IS40068,MS18672 dgv7420n71 7 101970902 102139865 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888871,nsv888873,nsv888867 M 6533 3 0 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS30368,IS37817,SP52552 esv7079 7 101977525 102076767 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29520 S 1 0 1 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL SJK nsv888868 7 101983453 102052702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503319 S 6533 0 1 POLR2J3,RASA4,SPDYE2,SPDYE2L SP52035 dgv7421n71 7 101983453 102069889 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888869,nsv888870 M 6533 5 4 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS37353,IS37734,MS14818,MS15715,MS16153,MS24553,SP53863,SP55024,SP81255 nsv888872 7 101983453 102121342 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588623,nssv1566536,nssv1586522 M 6533 2 1 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS30771,IS37848,IS38224 nsv469682 7 101990133 102147209 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649613 M 265 3 20 Samples from several populations that are part of the HapMap project. POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL nsv471643 7 101990134 102147209 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549999,nssv550017,nssv550005,nssv550001,nssv549996,nssv550019,nssv550009,nssv550008,nssv549991,nssv550007,nssv549995,nssv549994,nssv550002,nssv550013,nssv550006,nssv550016,nssv550012,nssv549998,nssv549992,nssv550018,nssv549993,nssv550014,nssv549997,nssv550011,nssv550000,nssv550003,nssv550015,nssv550004,nssv550010 M 48 4 25 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL JK1051,JK1058,JK1061,JK1688,NA10492,NA10494,NA10495,NA10967,NA10969,NA10976,NA10979,NA11323,NA11521,NA11523,NA15725,NA15726,NA15728,NA15729,NA15730,NA15731,NA16688,NA16689,NA17014,NA17017,NA17051,NA17052,NA17058,NA17059,P86GA nsv509219 7 101990575 102124363 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619497,nssv619498,nssv619496,nssv620889 M 4 2 0 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL NA10860,NA15510 dgv7422n71 7 101999689 102052702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888874,nsv888879,nsv888880 M 6533 0 6 POLR2J3,RASA4 IS32737,IS37172,IS38144,IS39233,IS40828,SP55388 dgv7423n71 7 101999689 102078369 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888876,nsv888889,nsv888888,nsv888890,nsv888883,nsv888875,nsv888882 M 6533 0 16 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS30284,IS31971,IS37995,IS38016,IS38110,IS38412,IS38455,IS40737,MS11482,MS17522,MS22584,MS23714,SP51049,SP51196,SP52231,SP54685 nsv888877 7 101999689 102086077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555828 S 6533 0 1 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL MS21637 nsv888881 7 102005497 102062128 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596674,nssv1598740,nssv1508925,nssv1599584,nssv1560647 M 6533 1 4 POLR2J3,RASA4 IS40606,IS40990,IS41703,MS24620,SP54593 dgv7424n71 7 102005497 102126404 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888898,nsv888884 M 6533 2 0 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS33406,SP53527 nsv471451 7 102007168 102044425 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548315,nssv548314,nssv548313 M 3 POLR2J3,RASA4 nsv482112 7 102007168 102044425 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558473 S 1 1 0 POLR2J3,RASA4 KB1 dgv7425n71 7 102014249 102074321 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888895,nsv888894,nsv888886,nsv888887 M 6533 0 11 POLR2J2,POLR2J3,RASA4,UPK3BL IS31066,IS35421,IS37861,IS39999,MS10517,MS12674,MS13050,SP50117,SP51146,SP52292,SP80992 nsv9 7 102019041 102123970 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv9 S 1 0 1 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL NA15510 nsv499135 7 102021751 102118438 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586038 S 9 0 1 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL dgv7426n71 7 102022918 102052702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888891,nsv888892 M 6533 0 2 POLR2J3,RASA4 IS35141,MS13751 dgv7427n71 7 102022918 102069889 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888893,nsv888900,nsv888902 M 6533 8 34 POLR2J2,POLR2J3,RASA4,UPK3BL IS31113,IS32803,IS33622,IS35010,IS35783,IS38232,IS38421,IS38471,IS38994,IS40046,IS40471,IS41166,IS41852,MS14923,MS15030,MS15748,MS16266,MS16774,MS17113,MS18406,MS18848,MS19246,MS19582,MS20236,MS21626,MS23412,MS24439,MS24918,SP50076,SP50094,SP51389,SP52051,SP52431,SP52829,SP52872,SP53060,SP53969,SP54060,SP54956,SP56912,SP56960,SP57067 dgv7428n71 7 102022918 102094911 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888896,nsv888897 M 6533 2 2 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS33192,IS37820,IS40130,SP56467 nsv888899 7 102032517 102052702 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523319,nssv1522441,nssv1533897,nssv1576214,nssv1520148,nssv1536867,nssv1573418,nssv1589605,nssv1545117,nssv1516736,nssv1554812,nssv1511656,nssv1520057,nssv1598787,nssv1559692,nssv1526371,nssv1548391,nssv1541983,nssv1522748,nssv1582683,nssv1551003,nssv1526471,nssv1528852,nssv1551556 M 6533 1 23 POLR2J3,RASA4 IS33361,IS33959,IS36086,IS38388,IS41296,MS11331,MS12991,MS15589,MS16677,MS17825,MS18722,MS18935,MS21017,MS24098,SP50661,SP50709,SP53068,SP53412,SP53947,SP55026,SP56926,SP57534,SP57589,SP81383 dgv7429n71 7 102032517 102074321 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888901,nsv888918 M 6533 0 2 POLR2J2,POLR2J3,RASA4,UPK3BL IS40849,MS16635 dgv7430n71 7 102032517 102086077 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv888905,nsv888904 M 6533 3 5 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS31070,IS33719,IS36901,MS16455,MS24372,SP51014,SP54107,SP56330 dgv7431n71 7 102032517 102086077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888913,nsv888912,nsv888903 M 6533 0 6 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS37612,MS10818,MS22207,MS25327,SP54950,SP81264 dgv7432n71 7 102032517 102109692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888914,nsv888906 M 6533 0 2 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL SP57174,SP58382 nsv888907 7 102032517 102121342 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557334,nssv1552767,nssv1542075,nssv1581466,nssv1571086 M 6533 3 2 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS32538,IS35581,MS15630,MS19630,MS22611 dgv7433n71 7 102032517 102146706 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888909,nsv888908 M 6533 0 2 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL MS12883,MS25440 nsv888910 7 102036621 102052702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592879,nssv1559714,nssv1589817 M 6533 0 3 POLR2J3,RASA4 IS38410,IS39272,MS24101 dgv7434n71 7 102036621 102062128 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888916,nsv888911 M 6533 0 18 POLR2J3,RASA4 IS32761,IS32805,IS34807,IS38400,IS39363,IS40105,IS40197,MS10872,MS11020,MS12202,MS17817,MS25950,SP50660,SP52553,SP54750,SP56914,SP81212,SP81553 nsv888915 7 102041581 102052702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524135,nssv1578066 M 6533 0 2 POLR2J3,RASA4 IS34649,SP54859 nsv888917 7 102041825 102062128 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572494,nssv1595721,nssv1540852,nssv1542938,nssv1532171,nssv1556348,nssv1560444,nssv1577023,nssv1596566,nssv1536483,nssv1534533 M 6533 2 9 POLR2J3,RASA4 IS33076,IS34312,IS40304,IS40570,MS10729,MS11663,MS12822,MS15060,MS15972,MS21928,MS24483 dgv7435n71 7 102041825 102086077 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888919,nsv888920 M 6533 4 0 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL SP52904,SP53425,SP56350,SP56842 nsv888921 7 102041825 102121342 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591314 S 6533 1 0 POLR2J2,POLR2J3,RASA4,SPDYE2,SPDYE2L,UPK3BL IS38671 nsv482113 7 102064710 102099418 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558474 S 1 1 0 POLR2J2,POLR2J3,SPDYE2,SPDYE2L,UPK3BL KB1 nsv469620 7 102083628 102241299 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649545 M 265 0 3 Samples from several populations that are part of the HapMap project. FAM185A,FBXL13,POLR2J2,POLR2J3,SPDYE2,SPDYE2L nsv888922 7 102109692 102185715 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598012 S 6533 0 1 FAM185A IS41317 nsv8193 7 102121801 102124566 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18411 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv8194 7 102134386 102170047 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19530,nssv15800,nssv18471 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18853,NA18860,NA19221 esv24687 7 102135311 102152748 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13139 S 451 0 5 "" NA11995,NA18508,NA18861,NA18907,NA19190 nsv442085 7 102139082 102145851 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv436895 7 102141168 102154873 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466396 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2752138 7 102145556 102574371 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985826,essv6985827,essv6989503,essv6990150,essv6985828 M 771 0 1 ARMC10,FAM185A,FBXL13,LRRC17,NAPEPLD,RPL19P12 SPC_61 nsv499551 7 102153936 102161567 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586039 S 9 0 1 "" nsv470382 7 102162899 102325751 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546109 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM185A,FBXL13 HGDP00609 nsv464667 7 102273490 102411428 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540543 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBXL13,LRRC17 HGDP00736 esv2494890 7 102275524 102276981 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220417 S 1 0 1 FBXL13 NA18507 esv2177009 7 102275758 102276490 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939327 S 1 0 1 FBXL13 NA18507 esv3724 7 102275889 102276360 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26165 S 1 0 1 Single Asian sample YH FBXL13 YH nsv365999 7 102275957 102276295 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384577 M 24 FBXL13 esv8670 7 102275959 102276278 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31111 S 1 0 1 FBXL13 SJK nsv5880 7 102292394 102337707 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3564 S 9 0 1 FBXL13 NA12878 esv273530 7 102304186 102304300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580817 S 7 1 0 Samples from several populations that are part of the HapMap project. FBXL13 NA19238 esv2452928 7 102359995 102360633 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354042 S 1 1 0 FBXL13,LRRC17 NA18507 esv1748254 7 102360244 102360244 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728772 S 2 1 0 FBXL13,LRRC17 HuRef nsv5881 7 102397724 102442935 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8410 S 9 0 1 FBXL13 NA12156 esv27075 7 102401700 102404584 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11760 S 451 0 1 FBXL13 NA19108 nsv517148 7 102411428 102411631 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653870,nssv682362,nssv661239,nssv666404,nssv678798,nssv677288 M 2026 0 6 FBXL13 nsv526764 7 102489062 102524487 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703116 S 2026 0 1 ARMC10,FBXL13 nsv831084 7 102566144 102752206 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446377,nssv1446378 M 95 2 0 DNAJC2,DPY19L2P2,NAPEPLD,PMPCB,RPL19P12 nsv5882 7 102576452 102594677 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5012 S 9 1 0 NAPEPLD NA19129 esv2364774 7 102587622 102588274 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4555684 S 1 0 1 "" NA18507 esv26441 7 102587705 102588625 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17313 S 451 7 0 "" NA11894,NA11931,NA18523,NA18907,NA19108,NA19114,NA19225 nsv820814 7 102587705 102588625 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420694 S 1 0 1 "" NA10851 esv2388970 7 102587718 102588775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502684 S 1 0 1 "" NA18507 nsv365403 7 102587780 102588459 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383981 M 24 "" esv1252568 7 102587888 102588588 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3657239 S 2 0 1 "" HuRef nsv5883 7 102594683 102601929 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8411 S 9 0 1 "" NA12156 nsv499230 7 102662555 102665122 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586040 S 9 0 1 DPY19L2P2 nsv5884 7 102749402 102785277 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv671,nssv2772 M 9 2 0 DNAJC2,PSMC2,SLC26A5 NA18555,NA19240 nsv5885 7 102814820 102849451 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2773 S 9 1 0 SLC26A5 NA18555 esv2117969 7 102879967 102883877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4677519 S 1 0 1 "" NA18507 nsv831085 7 102927908 103129624 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446379 S 95 1 0 RELN nsv888923 7 102930353 102986955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530109 S 6533 0 1 RELN MS10203 esv2556237 7 103013655 103015139 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238242 S 1 0 1 RELN NA18507 nsv5886 7 103029949 103061793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1680 S 9 1 0 RELN NA18555 nsv516122 7 103061803 103079061 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679907,nssv666355,nssv695828 M 2026 3 0 RELN dgv424n21 7 103162673 103167133 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524344,nsv518040 M 2026 0 2 RELN nsv524101 7 103178278 103178645 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699976 S 2026 0 1 RELN nsv523887 7 103183840 103184640 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699730 S 2026 0 1 RELN nsv523031 7 103245025 103257735 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698714 S 2026 1 0 RELN esv2236652 7 103250113 103250839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580468 S 1 0 1 RELN NA18507 esv3716 7 103250236 103250745 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26157 S 1 0 1 Single Asian sample YH RELN YH esv7153 7 103250308 103250625 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29594 S 1 0 1 RELN SJK esv990549 7 103250312 103250633 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566763 S 3 0 1 RELN HuRef esv1599327 7 103250316 103250638 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3601820 S 2 0 1 RELN HuRef nsv523466 7 103334371 103354761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699225 S 2026 0 1 RELN nsv517254 7 103354761 103355110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664696,nssv654126 M 2026 0 2 RELN nsv818543 7 103404113 103408368 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415656,nssv1415657 M 112 2 0 RELN NA10835,NA12248 nsv888924 7 103425142 103494172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541516 S 6533 0 1 "" MS15342 esv2462223 7 103551431 103552414 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264716 S 1 1 0 "" NA18507 esv1118586 7 103552064 103552064 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846735 S 2 1 0 "" HuRef esv28909 7 103559636 103561784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19884 S 451 0 1 ORC5 NA18508 nsv507406 7 103582844 103588844 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621883 S 4 1 0 ORC5 NA10860 nsv526062 7 103604833 103678321 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702301 S 2026 1 0 ORC5 nsv527105 7 103613238 103623368 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703485 S 2026 0 1 ORC5 esv269078 7 103619240 103619566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571835,essv2554492,essv2563295 M 157 3 0 Samples from several populations that are part of the HapMap project. ORC5 NA07346,NA10847,NA11840 esv2389168 7 103643553 103644185 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4779675 S 1 0 1 "" NA18507 esv7394 7 103643684 103643990 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29835 S 1 0 1 "" SJK esv1956506 7 103661980 103662692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842935 S 1 0 1 "" NA18507 esv9655 7 103662183 103662486 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32096 S 1 0 1 "" SJK nsv366914 7 103662188 103662494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385492 M 24 "" nsv510104 7 103768274 103774274 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621319 S 4 0 1 LHFPL3 NA15510 nsv522695 7 103808209 103808264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706105 S 2026 0 1 LHFPL3 nsv888925 7 103834835 103957796 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526957 S 6533 0 1 LHFPL3 SP58008 esv269357 7 103839811 103839887 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542171,essv2562381,essv2574718,essv2572741 M 157 4 0 Samples from several populations that are part of the HapMap project. LHFPL3 NA18856,NA18909,NA19138,NA19143 esv995457 7 103916751 103917031 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574556 S 3 0 1 LHFPL3 HuRef esv1092690 7 103916764 103917045 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3695955 S 2 0 1 LHFPL3 HuRef nsv888926 7 103933588 103951530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559964,nssv1556770,nssv1558780 M 6533 0 3 LHFPL3 MS22154,MS23541,MS24244 esv2519592 7 103974077 103975647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363317 S 1 0 1 LHFPL3 NA18507 esv2308211 7 103974434 103975164 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538079 S 1 0 1 LHFPL3 NA18507 esv1003973 7 103974488 103975247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565773 S 3 0 1 LHFPL3 HuRef esv3597 7 103974513 103975132 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26038 S 1 0 1 Single Asian sample YH LHFPL3 YH esv1338796 7 103974637 103974968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308639 S 2 0 1 LHFPL3 HuRef esv5739 7 103974638 103974951 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28180 S 1 0 1 LHFPL3 SJK esv989774 7 104108679 104109137 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563619 S 3 1 0 LHFPL3 HuRef nsv510105 7 104113888 104119888 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624044,nssv618271,nssv621320 M 4 0 3 LHFPL3 CHM,NA15510,NA18994 nsv516749 7 104139197 104143529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688233,nssv673808,nssv670622 M 2026 0 3 LHFPL3 nsv5887 7 104188486 104278840 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8412,nssv9724,nssv672 M 9 0 3 LHFPL3,LOC645591 NA12156,NA18507,NA19240 dgv425n21 7 104198509 104273943 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522743,nsv528392 M 2026 2 0 LHFPL3,LOC645591 nsv831086 7 104209739 104384002 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446380,nssv1446381 M 95 0 2 LHFPL3,LOC645591,LOC723809 nsv436902 7 104230122 104633030 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466397 S 2 1 0 Samples from several populations that are part of the HapMap project. LHFPL3,LOC100216545,LOC100216546,LOC645591,LOC723809,MLL5,SRPK2 NA18505 nsv437560 7 104248723 104269557 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467441 S 60 0 1 Samples from several populations that are part of the HapMap project. LHFPL3 NA19240 esv2626780 7 104251031 104264242 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260640 S 1 0 1 LHFPL3 NA18507 nsv8195 7 104251140 104264366 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17131,nssv15830 M 31 0 2 Samples from several populations that are part of the HapMap project. LHFPL3 NA18853,NA19240 nsv512917 7 104251777 104252823 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625564 S 1 1 0 LHFPL3 1 esv27227 7 104252690 104263826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19961 S 451 0 2 LHFPL3 NA19225,NA19240 nsv514436 7 104252704 104263704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627893 S 1414 0 1 LHFPL3 esv2543858 7 104252857 104264026 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311268 S 1 0 1 LHFPL3 NA18507 nsv442092 7 104252877 104259886 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LHFPL3 esv2422057 7 104252877 104263771 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5029326,essv5085606,essv5066921,essv5098041,essv5074900,essv5034334,essv5043604,essv5050852,essv5130130,essv5129485,essv5018289,essv5091888,essv5005635,essv5123112,essv5024937,essv5012694,essv5041968,essv5126091,essv5012852,essv5059349,essv5116795,essv5053691,essv5008524,essv5008408 M 1184 0 24 LHFPL3 NA18506,NA18507,NA18853,NA19044,NA19107,NA19109,NA19225,NA19226,NA19238,NA19239,NA19240,NA19247,NA19385,NA19452,NA19466,NA19471,NA19703,NA19705,NA19747,NA19748,NA20359,NA21300,NA21415,NA21632 esv1111234 7 104260721 104260721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258672 S 2 1 0 LHFPL3 HuRef esv1706323 7 104260735 104260735 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085329 S 2 1 0 LHFPL3 HuRef esv1256883 7 104260950 104261004 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774465 S 2 0 1 LHFPL3 HuRef esv272859 7 104274072 104275167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580845,essv2579380,essv2579710 M 7 3 0 Samples from several populations that are part of the HapMap project. LHFPL3 NA19238,NA19239,NA19240 esv271050 7 104274205 104275142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503022,essv2505323,essv2499674,essv2512123,essv2501747,essv2498195 M 157 6 0 Samples from several populations that are part of the HapMap project. LHFPL3 NA18507,NA18853,NA19225,NA19238,NA19239,NA19240 esv2768 7 104377319 104377575 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25209 S 1 0 1 Single Asian sample YH "" YH nsv888927 7 104401900 104568880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585467 S 6533 0 1 LOC100216545,LOC100216546,MLL5,SRPK2 IS37467 esv2591256 7 104402016 104403665 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336768 S 1 0 1 "" NA18507 esv2130770 7 104402244 104402979 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544951 S 1 0 1 "" NA18507 esv7748 7 104402431 104402766 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30189 S 1 0 1 "" SJK esv1159035 7 104402434 104402770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881110 S 2 0 1 "" HuRef nsv516060 7 104405554 104409638 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692072,nssv665939 M 2026 0 2 LOC100216546 nsv526422 7 104405554 104420216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702723 S 2026 0 1 LOC100216546 nsv437561 7 104413926 104434807 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467442 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC100216546 NA19221 nsv437995 7 104420216 104428477 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468991,nssv468990,nssv468989,nssv468988 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA19203,NA19205,NA19221,NA19222 dgv237e55 7 104524848 104940478 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34580,esv34588 M 771 2 0 MLL5,PUS7,SRPK2 NA12802,NA12814 nsv819773 7 104529215 104529531 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418626 S 2 0 1 MLL5 AK1 dgv2122e1 7 104545486 104995728 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20688,essv24498,essv23900,essv25101,esv825 M 271 0 0 EFCAB10,PUS7,RINT1,SRPK2 NA12802,NA12814 nsv8196 7 104550795 104943214 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14980 S 31 1 0 Samples from several populations that are part of the HapMap project. PUS7,SRPK2 NA12802 esv6303 7 104569502 104569604 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28744 S 1 1 0 SRPK2 SJK esv270521 7 104682770 104683126 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516651,essv2519268,essv2514056,essv2515109,essv2516464,essv2515635,essv2515974,essv2514290,essv2517839,essv2518371 M 157 10 0 Samples from several populations that are part of the HapMap project. SRPK2 NA11881,NA11894,NA12043,NA12812,NA12814,NA12815,NA12873,NA12874,NA12878,NA19240 esv273741 7 104682770 104683126 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581310,essv2581158 M 7 2 0 Samples from several populations that are part of the HapMap project. SRPK2 NA12878,NA19240 nsv888928 7 104685200 104732083 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499121 S 6533 0 1 SRPK2 SP50530 esv27705 7 104715560 104718407 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16312 S 451 0 1 SRPK2 NA19147 esv1250386 7 104775780 104775780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262250 S 2 1 0 SRPK2 HuRef esv2002456 7 104779498 104779852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796770 S 1 0 1 SRPK2 NA18507 esv4403 7 104779520 104779786 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26844 S 1 0 1 Single Asian sample YH SRPK2 YH nsv366339 7 104779532 104779621 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384917 M 24 SRPK2 esv1372047 7 104779622 104779712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770877 S 2 0 1 SRPK2 HuRef dgv7436n71 7 104800211 104980287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888929,nsv888930,nsv888931,nsv888933,nsv888932 M 6533 20 0 PUS7,RINT1,SRPK2 MS10413,MS13114,MS14752,MS15092,MS15382,MS15496,MS15813,MS16521,MS17067,MS17484,MS17723,MS18454,MS19006,MS20671,MS21525,MS21528,MS23487,MS24202,MS24497,MS24970 nsv888934 7 104804136 104843246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511389 S 6533 0 1 SRPK2 SP55021 nsv5889 7 104836676 104846954 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1681 S 9 1 0 "" NA18555 esv2624035 7 104872004 104872731 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185681 S 1 1 0 "" NA18507 esv259934 7 104872114 104872380 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397350,essv2401073,essv2396505,essv2394929,essv2395099,essv2399869,essv2399446,essv2400123,essv2394676,essv2398318,essv2399305,essv2395996,essv2397075,essv2400467,essv2394484 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA18517,NA18545,NA18550,NA18573,NA18858,NA18861,NA18870,NA19093,NA19102,NA19238,NA19239,NA19240,NA19257 esv259655 7 104872118 104872370 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394136,essv2393879,essv2393694,essv2394046,essv2394336 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1716712 7 104872213 104872213 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149532 S 2 1 0 "" HuRef nsv464668 7 104875929 104995728 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540544 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EFCAB10,PUS7,RINT1 HGDP00791 dgv7437n71 7 104898226 104980287 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888935,nsv888936 M 6533 2 0 PUS7,RINT1 MS16408,MS24381 nsv8197 7 104948156 104954201 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16117,nssv16458 M 31 2 0 Samples from several populations that are part of the HapMap project. PUS7 NA11830,NA18564 esv6566 7 105095100 105095423 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29007 S 1 0 1 ATXN7L1 SJK nsv528739 7 105105294 105133353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705395 S 2026 0 1 ATXN7L1 nsv5890 7 105170550 105194513 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9725 S 9 1 0 ATXN7L1 NA18507 nsv524191 7 105173697 105177795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700074 S 2026 0 1 ATXN7L1 nsv824249 7 105176760 105178090 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437523,nssv1431412,nssv1426777,nssv1436736 M 31 0 4 ATXN7L1 AK18,AK6,NA18542,NA18949 esv270750 7 105253266 105253456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503220,essv2501660,essv2508815,essv2502775,essv2494679,essv2506019,essv2505285,essv2501072,essv2493950,essv2504682,essv2510850,essv2498755,essv2493847,essv2501769,essv2498134,essv2495760,essv2511509 M 157 17 0 Samples from several populations that are part of the HapMap project. ATXN7L1 NA07000,NA07346,NA11881,NA12144,NA12878,NA12892,NA18519,NA18523,NA18853,NA18856,NA18871,NA19099,NA19116,NA19138,NA19210,NA19239,NA19240 esv272286 7 105253267 105253529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580230,essv2579993,essv2579092,essv2579685 M 7 4 0 Samples from several populations that are part of the HapMap project. ATXN7L1 NA12878,NA12892,NA19239,NA19240 nsv464669 7 105291437 105320971 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540545 S 1557 0 1 ATXN7L1 1798860102_A esv1641219 7 105336320 105336320 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347347 S 2 1 0 "" HuRef esv2467566 7 105351264 105352222 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250896 S 1 1 0 "" NA18507 esv269174 7 105351669 105352001 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557812,essv2540681,essv2546173,essv2521370,essv2542404,essv2522932,essv2543810,essv2570822,essv2545486,essv2531774,essv2570569,essv2548468,essv2521667,essv2550670,essv2525396,essv2550499,essv2554210,essv2552116,essv2520595,essv2547192,essv2529188,essv2577929,essv2553842,essv2565538,essv2561894,essv2537411,essv2546740,essv2530482,essv2521008,essv2557574,essv2532358,essv2562776,essv2569305,essv2578826,essv2550089,essv2558747,essv2537086,essv2539148,essv2527349,essv2561542,essv2544929,essv2523712,essv2541355,essv2538315,essv2542820,essv2540575,essv2565012,essv2549588,essv2560150,essv2521906,essv2566313,essv2531273,essv2567704,essv2567412,essv2541493,essv2563700,essv2553425,essv2572290,essv2558990,essv2551155,essv2543791,essv2562520,essv2539330,essv2578171,essv2555465,essv2555701,essv2567221,essv2566552,essv2527564,essv2557643,essv2556092,essv2534410,essv2531486,essv2576936,essv2526889,essv2529811,essv2575736,essv2538734,essv2560688,essv2524046,essv2560933,essv2574959,essv2530411,essv2572880,essv2568683,essv2545188,essv2548149,essv2571447,essv2545985,essv2574216,essv2537897,essv2549109,essv2532996,essv2554359,essv2563405 M 157 95 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA10847,NA10851,NA11831,NA11881,NA11894,NA11919,NA11931,NA11992,NA11993,NA12003,NA12006,NA12044,NA12045,NA12144,NA12155,NA12156,NA12234,NA12287,NA12489,NA12716,NA12717,NA12749,NA12761,NA12763,NA12812,NA12874,NA12878,NA12892,NA18486,NA18498,NA18499,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18545,NA18547,NA18550,NA18552,NA18558,NA18564,NA18570,NA18571,NA18572,NA18573,NA18577,NA18582,NA18592,NA18603,NA18605,NA18609,NA18638,NA18858,NA18870,NA18909,NA18912,NA18940,NA18943,NA18945,NA18947,NA18948,NA18952,NA18953,NA18956,NA18959,NA18961,NA18970,NA19005,NA19093,NA19099,NA19108,NA19116,NA19129,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19210,NA19238,NA19239,NA19240 esv273552 7 105351672 105352002 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581757,essv2582645,essv2582843 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv5891 7 105362258 105405074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8414 S 9 0 1 CDHR3 NA12156 dgv2123e1 7 105372902 105374677 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22787,esv899,essv24161 M 271 0 0 "" NA12751,NA12753 nsv820197 7 105401284 105413220 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418623 S 2 0 1 CDHR3 AK1 esv269437 7 105422997 105423082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513789 S 157 1 0 Samples from several populations that are part of the HapMap project. CDHR3 NA19143 nsv520366 7 105504417 105533561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683846,nssv663255 M 2026 0 2 SYPL1 esv4398 7 105521145 105521625 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26839 S 1 0 1 Single Asian sample YH SYPL1 YH esv6202 7 105521203 105521566 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28643 S 1 0 1 SYPL1 SJK nsv365599 7 105521227 105521564 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384177 M 24 SYPL1 esv5623 7 105553540 105553639 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28064 S 1 1 0 "" SJK esv2620112 7 105568902 105570311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203936 S 1 0 1 "" NA18507 nsv526450 7 105578853 105586909 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702753 S 2026 0 1 "" esv275468 7 105608496 105609167 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585635,essv2585976 M 1250 1 1 "" nsv888937 7 105652430 105738745 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594032 S 6533 0 1 NAMPT IS39666 nsv5892 7 105746396 105767290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv673,nssv5013 M 9 2 0 "" NA19129,NA19240 esv273871 7 105755084 105761193 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578901,essv2579652 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv510106 7 105919200 105925200 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618272 S 4 0 1 "" CHM esv2180299 7 106058140 106058575 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524287 S 1 0 1 "" NA18507 nsv888938 7 106082865 106119173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518146 S 6533 0 1 C7orf74 SP57469 esv2182378 7 106156129 106156573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894660 S 1 0 1 "" NA18507 nsv512918 7 106199038 106200162 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625565 S 1 1 0 "" 1 esv1310983 7 106199841 106199841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760008 S 2 1 0 "" HuRef esv2471375 7 106210560 106212070 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200901 S 1 0 1 "" NA18507 esv6805 7 106250593 106253366 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29246 S 1 0 0 "" SJK nsv507407 7 106291451 106297451 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620387,nssv621884 M 4 2 0 PIK3CG NA10860,NA15510 esv1363604 7 106409391 106409391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192380 S 2 1 0 "" HuRef nsv831087 7 106460701 106659696 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446382 S 95 1 0 COG5,HBP1,PRKAR2B esv274079 7 106500375 106500728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578991 S 7 1 0 Samples from several populations that are part of the HapMap project. PRKAR2B NA19239 esv32754 7 106511044 106515955 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93895 S 51 0 1 PRKAR2B 21634 nsv888939 7 106636629 106832936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584398 S 6533 0 1 COG5 IS36981 esv271496 7 106734777 106740625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518635 S 157 1 0 Samples from several populations that are part of the HapMap project. COG5 NA12287 nsv819371 7 106776985 106781617 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419650 S 2 0 1 COG5 AK1 nsv824250 7 106778284 106781523 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433746 S 31 0 1 COG5 NA18526 nsv7404 7 106805971 106891503 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10573,nssv6160 M 9 0 0 COG5 NA12156,NA18956 nsv510107 7 106825966 106831966 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618273 S 4 0 1 COG5 CHM esv1007164 7 106840221 106855308 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565558 S 3 0 0 COG5 HuRef nsv513679 7 106844929 106850048 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626931 S 1 0 0 COG5 1 nsv436679 7 106845405 106846837 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466398 S 2 0 0 Samples from several populations that are part of the HapMap project. COG5 NA18505 esv2614488 7 106845746 106850922 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308018 S 1 0 0 COG5 NA18507 dgv53n47 7 106845788 106850969 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499707,nsv499768,nsv499721,nsv499791 M 9 0 0 COG5 esv1631266 7 106846308 106850371 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902601 S 2 0 0 COG5 HuRef nsv513680 7 106846452 106851643 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626932 S 1 0 0 COG5 1 dgv124n16 7 106848172 106850981 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436712,nsv435988 M 2 0 0 COG5 NA15510,NA18505 nsv888940 7 106997619 107016854 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518147 S 6533 0 1 BCAP29,DUS4L SP57469 esv1284866 7 107026928 107026928 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648694 S 2 1 0 BCAP29 HuRef nsv366928 7 107041331 107041380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385506 M 24 BCAP29 nsv518018 7 107104946 107108951 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695430 S 2026 0 1 SLC26A4 nsv512919 7 107154893 107155239 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625567 S 1 1 0 "" 1 esv2442510 7 107155032 107155627 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332107 S 1 1 0 "" NA18507 nsv507408 7 107155852 107161852 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617745,nssv623013,nssv620388 M 4 3 0 "" CHM,NA15510,NA18994 esv1126780 7 107157818 107157818 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333640 S 2 1 0 "" HuRef esv1001935 7 107157824 107161011 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563821 S 3 1 0 "" HuRef esv1935368 7 107167663 107168078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624622 S 1 0 1 "" NA18507 esv5282 7 107197764 107197995 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27723 S 1 0 1 Single Asian sample YH SLC26A3 YH esv1189776 7 107197862 107197947 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313862 S 2 0 1 SLC26A3 HuRef esv2556506 7 107200040 107201548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211466 S 1 0 1 SLC26A3 NA18507 nsv5893 7 107225734 107259276 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5014 S 9 1 0 SLC26A3 NA19129 esv267564 7 107248611 107248852 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498355,essv2497226,essv2504524,essv2508156,essv2508437,essv2495162,essv2498795 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18552,NA18563,NA18579,NA18582,NA18964,NA19138 esv2834 7 107251259 107252132 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25275 S 1 0 1 Single Asian sample YH "" YH esv8938 7 107251346 107251980 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31379 S 1 0 1 "" SJK nsv831088 7 107284336 107480916 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446383 S 95 0 1 DLD,LAMB1,LAMB4 esv24415 7 107287203 107287718 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11421 S 451 1 0 "" NA11894 esv34192 7 107313974 107323516 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 DLD esv259654 7 107329488 107329800 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393651 S 6 0 0 Samples from several populations that are part of the HapMap project. DLD NA19238 nsv365319 7 107350901 107350954 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383897 M 24 "" esv2595279 7 107470477 107471966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328048 S 1 0 1 LAMB4 NA18507 esv2037177 7 107471032 107471561 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944286 S 1 0 1 LAMB4 NA18507 esv3089 7 107471166 107471444 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25530 S 1 0 1 Single Asian sample YH LAMB4 YH nsv365697 7 107471230 107471372 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384275 M 24 LAMB4 nsv831089 7 107474854 107664476 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446385 S 95 0 1 LAMB4,NRCAM nsv831090 7 107573886 107798432 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446387,nssv1446386,nssv1446389,nssv1446390,nssv1446388 M 95 0 5 NRCAM nsv888941 7 107583386 107650631 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537080 S 6533 0 1 NRCAM MS13095 nsv5894 7 107597894 107630244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2774,nssv674,nssv9911,nssv6161,nssv5015,nssv10574,nssv3565 M 9 7 0 NRCAM NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv509220 7 107604208 107635683 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620890,nssv618067,nssv619499,nssv623517 M 4 4 0 NRCAM CHM,NA10860,NA15510,NA18994 nsv365475 7 107605309 107605402 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384053 M 24 NRCAM esv1688012 7 107605321 107605413 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877968 S 2 0 1 NRCAM HuRef esv270868 7 107616466 107622576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565839,essv2576125,essv2541009,essv2571780,essv2546194,essv2521227,essv2526157,essv2542584,essv2523055,essv2544152,essv2570758,essv2556513,essv2568279,essv2545613,essv2523244,essv2531748,essv2577324,essv2570695,essv2548189,essv2521826,essv2576664,essv2550683,essv2550400,essv2534994,essv2554297,essv2520698,essv2547534,essv2558554,essv2564397,essv2578033,essv2553864,essv2565401,essv2576247,essv2520019,essv2564060,essv2554864,essv2530605,essv2562123,essv2537262,essv2528204,essv2547035,essv2539976,essv2520804,essv2556908,essv2551704,essv2532116,essv2562577,essv2569212,essv2550035,essv2537029,essv2569758,essv2527360,essv2561493,essv2544745,essv2562984,essv2523863,essv2552798,essv2541431,essv2542924,essv2540455,essv2524408,essv2565141,essv2534894,essv2561069,essv2539768,essv2549377,essv2519758,essv2559863,essv2522291,essv2566007,essv2531148,essv2532471,essv2567978,essv2529000,essv2541603,essv2569977,essv2563653,essv2553486,essv2535756,essv2572557,essv2558994,essv2541994,essv2551063,essv2568882,essv2543415,essv2527738,essv2539428,essv2533968,essv2578208,essv2573018,essv2555446,essv2533533,essv2567004,essv2566396,essv2529961,essv2527618,essv2557738,essv2556123,essv2534447,essv2522399,essv2531449,essv2573592,essv2543177,essv2577170,essv2571938,essv2525634,essv2529614,essv2575119,essv2538724,essv2560687,essv2574742,essv2545010,essv2560468,essv2548157,essv2571471,essv2545810,essv2574077,essv2536354,essv2549060,essv2533245,essv2554510,essv2547948,essv2525064,essv2563184,essv2558083 M 157 125 0 Samples from several populations that are part of the HapMap project. NRCAM NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12234,NA12249,NA12287,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18504,NA18505,NA18507,NA18508,NA18511,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18858,NA18861,NA18870,NA18907,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19093,NA19102,NA19108,NA19116,NA19138,NA19172,NA19190,NA19210,NA19238,NA19239,NA19240 esv274616 7 107616467 107622548 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581903,essv2582764,essv2582893,essv2584262,essv2584425,essv2583378 M 7 6 0 Samples from several populations that are part of the HapMap project. NRCAM NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1781344 7 107616499 107616499 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297368 S 2 1 0 NRCAM HuRef esv1008394 7 107616499 107616661 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564707 S 3 1 0 NRCAM HuRef nsv5895 7 107665902 107698213 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv675 S 9 1 0 NRCAM NA19240 dgv7438n71 7 107680931 107845810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888942,nsv888943 M 6533 0 2 NRCAM SP50828,SP53023 esv22031 7 107696043 107696570 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11077 S 451 0 2 NRCAM NA18508,NA18909 esv275106 7 107960359 107966742 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585337 S 1250 0 1 "" esv275371 7 108038090 108044649 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585108 S 1250 0 1 "" nsv512920 7 108112508 108113238 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625568 S 1 1 0 "" 1 esv273962 7 108112880 108112965 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581213 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv888944 7 108136021 108221026 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499164 S 6533 1 0 "" SP50559 nsv511985 7 108138886 108142166 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624529 S 1 0 1 "" 1 esv2493183 7 108139377 108140993 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376534 S 1 0 1 "" NA18507 esv2205957 7 108139914 108140600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754080 S 1 0 1 "" NA18507 esv2497915 7 108140083 108140407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343534 S 1 0 1 "" NA18507 esv1656313 7 108140093 108140418 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363564 S 2 0 1 "" HuRef esv273531 7 108179227 108179497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581971,essv2583012,essv2584099,essv2584426,essv2583354 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv888945 7 108232993 108309078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504825,nssv1504332 M 6533 0 2 "" SP52432,SP52762 esv3094 7 108288651 108288856 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25535 S 1 0 1 Single Asian sample YH "" YH esv989745 7 108288680 108288780 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578112 S 3 0 1 "" HuRef nsv366315 7 108288681 108288781 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384893 M 24 "" esv1199838 7 108288682 108288783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233943 S 2 0 1 "" HuRef esv271481 7 108330178 108330535 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496380,essv2494968,essv2506075,essv2498580,essv2505792,essv2510884,essv2509469,essv2498892,essv2497525,essv2501957 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18520,NA18523,NA18858,NA18861,NA19116,NA19129,NA19138,NA19147,NA19239 esv274589 7 108330195 108330540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579029 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269181 7 108338429 108338710 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565825,essv2536496,essv2556744,essv2535417,essv2554152,essv2558392,essv2564554,essv2558930,essv2544814,essv2542824,essv2522034,essv2532896,essv2553494,essv2573220,essv2555418,essv2525786,essv2535983,essv2563344 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10847,NA11829,NA11920,NA11994,NA12249,NA12287,NA12750,NA12751,NA18516,NA18526,NA18550,NA18571,NA18576,NA18605,NA18942,NA18943,NA18980 dgv7439n71 7 108379460 108432175 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv888948,nsv888946,nsv888947 M 6533 5 0 "" SP52904,SP54370,SP56144,SP57404,SP57779 nsv824251 7 108382806 108431091 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433747 S 31 1 0 "" NA18526 dgv2124e1 7 108382881 108447634 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv919,essv3429 M 271 0 0 "" NA18956 nsv442060 7 108383251 108424837 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2537457 7 108396116 108397431 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252607 S 1 0 1 "" NA18507 esv1772284 7 108444322 108444322 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217539 S 2 1 0 "" HuRef nsv831091 7 108543454 108710880 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446391 S 95 1 0 "" nsv831094 7 108593855 108768829 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446392 S 95 1 0 "" esv2169280 7 108671775 108672254 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928658 S 1 0 1 "" NA18507 esv5368 7 108671919 108672239 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27809 S 1 0 1 Single Asian sample YH "" YH esv1497865 7 108671954 108672083 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779210 S 2 0 1 "" HuRef nsv888949 7 108705797 108774722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597963 S 6533 0 1 "" IS41292 nsv888950 7 108732977 108827371 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531108 S 6533 0 1 "" MS10324 nsv520712 7 108779175 108786422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674485,nssv688272 M 2026 0 2 "" esv273139 7 108865185 108865431 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580229,essv2579866 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv268334 7 108865190 108865392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512251,essv2510326,essv2503411,essv2493367,essv2508832,essv2502788,essv2503599 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA12155,NA12414,NA12716,NA12776,NA12878,NA12892 esv270630 7 109008961 109009253 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497075,essv2493856 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19190,NA19210 esv269377 7 109070552 109070898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519248,essv2516997,essv2514145,essv2514781,essv2515514,essv2518644,essv2515143,essv2517565,essv2518333 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12043,NA12234,NA12249,NA12287,NA12812,NA12878,NA19240 esv272384 7 109070552 109070898 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581065 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1336136 7 109070588 109070588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709407 S 2 1 0 "" HuRef nsv824252 7 109084161 109084919 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432145 S 31 0 1 "" AK20 nsv888951 7 109133057 109252274 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556821 S 6533 1 0 "" MS22207 nsv824255 7 109136161 109137305 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435946 S 31 0 1 "" NA18566 nsv5896 7 109185920 109260277 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8415,nssv11158,nssv9445,nssv676 M 9 0 4 "" NA12156,NA15510,NA18517,NA19240 dgv2125e1 7 109197216 109394855 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22337,esv337,essv17507,essv14278,essv11805 M 271 0 0 EIF3IP1 NA06985,NA12762,NA18521,NA19194 nsv8198 7 109208841 109210716 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18743 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv520896 7 109211341 109247346 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694406 S 2026 0 1 "" nsv10 7 109214180 109249168 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv10 S 1 0 1 "" NA15510 nsv508475 7 109216462 109250003 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619998 S 4 0 1 "" NA15510 nsv8199 7 109217348 109244248 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16558,nssv15010,nssv14839,nssv15275,nssv16989,nssv16679,nssv16293,nssv15964,nssv17161,nssv19064,nssv15632,nssv16386,nssv18327,nssv18012,nssv15716,nssv16488,nssv18501,nssv18373,nssv14531,nssv16036,nssv19560,nssv15860,nssv15262,nssv18803,nssv15707,nssv17048,nssv15414,nssv16185 M 31 28 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv28712 7 109217746 109241159 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21080,esv10994 M 451 36 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2421395 7 109218088 109242941 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5118031,essv5126773,essv5147579,essv5027770,essv5134017,essv5160032,essv5131555,essv5023993,essv5007343,essv5021416,essv5088506,essv5009559,essv5002477,essv5130492,essv5014124,essv5136488,essv5143409,essv5128126,essv5132531,essv5130865,essv5045600,essv5018287,essv5098052,essv5044693,essv5031576,essv5104204,essv5068394,essv5062050,essv5135677,essv5096534,essv5084640,essv5002179,essv5119618,essv5155118,essv5158366,essv5021903,essv5076267,essv5035206,essv5143237,essv5146103,essv5022562,essv5088410,essv5061396,essv5063919,essv5156652,essv5095807,essv5115164,essv5042327,essv5140521,essv5064751,essv5110331,essv5113695,essv5159256,essv5101147,essv5150584,essv5099284,essv5073576,essv5088045,essv5146590,essv5145017,essv5142482,essv5158883,essv5114790,essv5125084,essv5143122,essv5136474,essv5132104,essv5131529,essv5078007,essv5157083,essv5107852,essv5102540,essv5123918,essv5069975,essv5136742,essv5144646,essv5119683,essv5057573,essv5035601,essv5040189,essv5047343,essv5130527,essv5035261,essv5034133,essv5100670,essv5005977,essv5108436,essv5158442,essv5080270,essv5159938,essv5124805,essv5158680,essv5105914,essv5116917,essv5021616,essv5075808,essv5140101,essv5152528,essv5040896,essv5074307,essv5063755,essv5048452,essv5137665,essv5071245,essv5051985,essv5048270,essv5026950,essv5105741,essv5054777,essv5009431,essv5039910,essv5040663,essv5046485,essv5027115,essv5122913,essv5120007,essv5023255,essv5098423,essv5156577,essv5006445,essv5018005,essv5031855,essv5043488,essv5063124,essv5074048,essv5021009,essv5035344,essv5148015,essv5014684,essv5125618,essv5044458,essv5082639,essv5064910,essv5110888,essv5039084,essv5037804,essv5093614,essv5032604,essv5035247,essv5059855,essv5013393,essv5076097,essv5153928,essv5065700,essv5152129,essv5055775,essv5057538,essv5157093,essv5068159,essv5053575,essv5002612,essv5025680,essv5036537,essv5126429,essv5049476,essv5015039,essv5084095,essv5119426,essv5040667,essv5055822,essv5121314,essv5150940,essv5008554,essv5127355,essv5128663,essv5040887,essv5120436,essv5022175,essv5005260,essv5104693,essv5123786,essv5120366,essv5139903,essv5119410,essv5137818,essv5085736,essv5032559,essv5116072,essv5118929,essv5066135,essv5113376,essv5024814,essv5156856,essv5121727,essv5005083,essv5126812,essv5060415,essv5101076,essv5152931,essv5063503,essv5079113,essv5133580,essv5046520,essv5002605,essv5116350,essv5078023,essv5111816,essv5096952,essv5057708,essv5022273,essv5135729,essv5098454,essv5037963,essv5046656,essv5130190,essv5005425,essv5106041,essv5092899,essv5124412,essv5082660,essv5062479,essv5021739,essv5081847,essv5038119,essv5003404,essv5137807,essv5042012,essv5120703,essv5111853,essv5078012,essv5044905,essv5031651,essv5096937,essv5103341,essv5052113,essv5043105,essv5014223,essv5145142,essv5157274,essv5046981,essv5059539,essv5106867,essv5150335,essv5036889,essv5004174,essv5026075,essv5032120,essv5137830,essv5057146,essv5149802,essv5021784,essv5154625,essv5007402,essv5066318,essv5101666,essv5016647,essv5154554,essv5079918,essv5153331,essv5118585,essv5022539,essv5030911,essv5090642,essv5021548,essv5030637,essv5124932,essv5130201,essv5006274,essv5076302,essv5090669,essv5143363,essv5053549,essv5058150,essv5044698,essv5011196,essv5062512,essv5142876,essv5052098,essv5082001,essv5057387,essv5033283,essv5133877,essv5053776,essv5085889,essv5003897,essv5136163,essv5084256,essv5073251,essv5114598,essv5110811,essv5081412,essv5081721,essv5035173,essv5041125,essv5107437,essv5080592,essv5076374,essv5016772,essv5084707,essv5066428,essv5035128,essv5094500,essv5150829,essv5016890,essv5146052,essv5151065,essv5106141,essv5063390,essv5008908,essv5131894,essv5131613,essv5136840,essv5116622,essv5154126,essv5155329,essv5071947,essv5024678,essv5106740,essv5147455,essv5108195,essv5034185,essv5007138,essv5056648,essv5111747,essv5081443,essv5062143,essv5068528,essv5021652,essv5035799,essv5003812,essv5013439,essv5117855,essv5086611,essv5117599,essv5096762,essv5039698,essv5044059,essv5120600,essv5051242,essv5097891,essv5151052,essv5020650,essv5103076,essv5036867,essv5147427,essv5063815,essv5052363,essv5155347,essv5038190,essv5088280,essv5086074,essv5102883,essv5152479,essv5145717,essv5116032,essv5082374,essv5157557,essv5033872,essv5136002,essv5034642,essv5143748,essv5095481,essv5022130,essv5088263,essv5024627,essv5006329,essv5121773,essv5106015,essv5151443,essv5067949,essv5002191,essv5104855,essv5027996,essv5086657,essv5093826,essv5120661,essv5011462,essv5084563,essv5136387,essv5093702,essv5016112,essv5090277,essv5034295,essv5159904,essv5092323,essv5009650,essv5093248,essv5099599,essv5134126,essv5134776,essv5074510,essv5151746,essv5150568,essv5035900,essv5097417,essv5018946,essv5158572,essv5011505,essv5037365,essv5086234,essv5073655,essv5045495,essv5081462,essv5090170,essv5067985,essv5025861,essv5089476,essv5149362,essv5084045,essv5068901,essv5016084,essv5093142,essv5159491,essv5150788,essv5050825,essv5008735,essv5036542,essv5037684,essv5048387,essv5003149,essv5031398,essv5030251,essv5143464,essv5064081,essv5127566,essv5031688,essv5078143,essv5078240,essv5071703,essv5085536,essv5112837,essv5005480,essv5152721,essv5068691,essv5028745,essv5079617,essv5075632,essv5148153,essv5027439,essv5146702,essv5146730,essv5106283,essv5087832,essv5030345,essv5148371,essv5005350,essv5034866,essv5097867,essv5020158,essv5011288,essv5098495,essv5009242,essv5068457,essv5005591,essv5024220,essv5116098,essv5027209,essv5121201,essv5003254,essv5115624,essv5049309,essv5011794,essv5050389,essv5151748,essv5012804,essv5094478,essv5155786,essv5056707,essv5137104,essv5060279,essv5041367,essv5030910,essv5160170,essv5102577,essv5010682,essv5007610,essv5121478,essv5021319,essv5078687,essv5143243,essv5102716,essv5090142,essv5147555,essv5115632,essv5013462,essv5135876,essv5115085,essv5036319,essv5002262,essv5020223,essv5018904,essv5056813,essv5141397,essv5086988,essv5064143,essv5018015,essv5120803,essv5080922,essv5143300,essv5086647,essv5119895,essv5153334,essv5151786,essv5007397,essv5047335,essv5112169,essv5130015,essv5062697,essv5009693,essv5137478,essv5100999,essv5149382,essv5093531,essv5093760,essv5112979,essv5128190,essv5064509,essv5156739,essv5101237,essv5100000,essv5099740,essv5020773,essv5029933 M 1184 0 513 "" NA06984,NA06986,NA06989,NA06993,NA06994,NA06997,NA07014,NA07022,NA07029,NA07031,NA07045,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10853,NA10856,NA10859,NA10863,NA10864,NA11829,NA11830,NA11831,NA11843,NA11881,NA11882,NA11893,NA11894,NA11917,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12043,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12248,NA12264,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12348,NA12375,NA12376,NA12386,NA12399,NA12400,NA12413,NA12489,NA12707,NA12708,NA12716,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12761,NA12766,NA12767,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12843,NA12864,NA12865,NA12872,NA12873,NA12875,NA12890,NA12891,NA17962,NA17965,NA17966,NA17970,NA17972,NA17975,NA17976,NA17977,NA17988,NA17993,NA17995,NA17997,NA18101,NA18105,NA18107,NA18108,NA18109,NA18122,NA18127,NA18128,NA18131,NA18132,NA18134,NA18140,NA18141,NA18143,NA18144,NA18147,NA18148,NA18150,NA18153,NA18155,NA18157,NA18485,NA18487,NA18488,NA18499,NA18501,NA18506,NA18508,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18529,NA18542,NA18543,NA18544,NA18548,NA18552,NA18558,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18594,NA18595,NA18599,NA18602,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18616,NA18618,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18630,NA18632,NA18633,NA18636,NA18637,NA18641,NA18647,NA18670,NA18674,NA18685,NA18704,NA18740,NA18745,NA18747,NA18748,NA18757,NA18852,NA18870,NA18872,NA18912,NA18913,NA18914,NA18933,NA18935,NA18946,NA18951,NA18952,NA18957,NA18960,NA18962,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18979,NA18980,NA18981,NA18991,NA18993,NA18994,NA18999,NA19001,NA19007,NA19036,NA19044,NA19055,NA19056,NA19058,NA19059,NA19064,NA19070,NA19074,NA19075,NA19076,NA19078,NA19080,NA19081,NA19083,NA19107,NA19109,NA19114,NA19116,NA19118,NA19120,NA19128,NA19129,NA19140,NA19142,NA19149,NA19151,NA19159,NA19176,NA19178,NA19179,NA19180,NA19193,NA19200,NA19201,NA19202,NA19204,NA19235,NA19238,NA19240,NA19308,NA19321,NA19327,NA19380,NA19393,NA19394,NA19396,NA19399,NA19403,NA19429,NA19430,NA19452,NA19457,NA19466,NA19471,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19684,NA19685,NA19686,NA19708,NA19713,NA19714,NA19719,NA19720,NA19721,NA19723,NA19746,NA19748,NA19749,NA19751,NA19755,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19776,NA19778,NA19779,NA19780,NA19781,NA19783,NA19788,NA19794,NA19796,NA19819,NA19828,NA19916,NA19917,NA19918,NA19982,NA19983,NA20279,NA20281,NA20284,NA20300,NA20302,NA20317,NA20319,NA20341,NA20342,NA20343,NA20347,NA20348,NA20349,NA20350,NA20357,NA20358,NA20359,NA20360,NA20504,NA20506,NA20508,NA20509,NA20510,NA20515,NA20516,NA20518,NA20522,NA20525,NA20527,NA20528,NA20529,NA20531,NA20534,NA20535,NA20539,NA20540,NA20541,NA20543,NA20582,NA20586,NA20753,NA20754,NA20755,NA20756,NA20757,NA20761,NA20766,NA20768,NA20772,NA20775,NA20785,NA20786,NA20787,NA20796,NA20799,NA20801,NA20803,NA20804,NA20806,NA20808,NA20810,NA20811,NA20816,NA20819,NA20828,NA20847,NA20849,NA20859,NA20862,NA20871,NA20872,NA20874,NA20875,NA20879,NA20884,NA20891,NA20898,NA20901,NA20904,NA20908,NA21091,NA21099,NA21100,NA21103,NA21104,NA21106,NA21117,NA21137,NA21143,NA21144,NA21295,NA21300,NA21302,NA21303,NA21352,NA21353,NA21356,NA21362,NA21365,NA21366,NA21367,NA21368,NA21381,NA21383,NA21385,NA21386,NA21390,NA21403,NA21414,NA21415,NA21424,NA21425,NA21447,NA21448,NA21451,NA21457,NA21478,NA21491,NA21493,NA21509,NA21510,NA21513,NA21514,NA21517,NA21520,NA21521,NA21523,NA21525,NA21528,NA21529,NA21576,NA21580,NA21596,NA21614,NA21620,NA21631,NA21632,NA21647,NA21648,NA21682,NA21683,NA21686,NA21716,NA21719,NA21723,NA21733,NA21740,NA21741 nsv435856 7 109222037 109241359 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466401 S 2 0 1 "" NA15510 dgv133n17 7 109223238 109242941 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437563,nsv437564,nsv437565,nsv437562 M 60 0 4 "" NA18872,NA18914,NA19120,NA19129 nsv820775 7 109223570 109241230 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420695 S 1 0 1 "" NA10851 nsv824256 7 109223570 109241230 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435947 S 31 0 1 "" NA18566 esv996470 7 109228802 109241084 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586303 S 3 1 0 "" HuRef nsv437996 7 109229030 109238466 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv468994,nssv469021,nssv469054,nssv469017,nssv469035,nssv469036,nssv469049,nssv469044,nssv469029,nssv469001,nssv469018,nssv469026,nssv468999,nssv469046,nssv469034,nssv469053,nssv469038,nssv469050,nssv468998,nssv469004,nssv469048,nssv469028,nssv469023,nssv469043,nssv469022,nssv469005,nssv469033,nssv469027,nssv469012,nssv469006,nssv469003,nssv468995,nssv469015,nssv469031,nssv469047,nssv469032,nssv469051,nssv469040,nssv469013,nssv469002,nssv468992,nssv469000,nssv469045,nssv469011,nssv469024,nssv468996,nssv469025,nssv469037,nssv469009,nssv469042,nssv469010,nssv468993,nssv469007,nssv469039,nssv469016,nssv469014,nssv469020 M 269 0 37 Samples from several populations that are part of the HapMap project. "" NA06994,NA07019,NA07022,NA07055,NA07056,NA07357,NA10846,NA10851,NA10859,NA11830,NA11993,NA12234,NA12707,NA12717,NA12801,NA18515,NA18566,NA18608,NA18609,NA18620,NA18624,NA18870,NA18872,NA18913,NA18914,NA18952,NA18964,NA18973,NA18980,NA18981,NA19116,NA19120,NA19128,NA19129,NA19140,NA19142,NA19202 dgv1127n67 7 109230136 109240506 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824261,nsv824258,nsv824263,nsv824262,nsv824259,nsv824260,nsv824257 M 31 0 17 "" AK12,AK14,AK16,AK20,AK4,AK6,AK8,NA18542,NA18552,NA18564,NA18570,NA18942,NA18951,NA18968,NA18969,NA18973,NA18999 nsv514437 7 109230336 109240272 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627894 S 1414 0 1 "" esv33987 7 109231491 109240239 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98847,essv97596,essv101133,essv100756,essv96795,essv101054,essv95075,essv98309,essv94072,essv94452,essv97037,essv95689,essv95487,essv93075,essv95278,essv94532,essv99067,essv92871,essv93764,essv96645,essv97268,essv98562,essv96039,essv93301,essv99661,essv92565,essv98009,essv97622,essv100243,essv100436,essv99371,essv98420,essv96390 M 51 33 0 "" 21606,21616,21618,21656,21659,21693,21721,21772,21802,21808,21817,21841,21847,21863,21872,21932,21938,21939,21972,22011,22075,22085,22127,22170,22217,22233,22259,22278,22286,22300,22335,22352,22371 nsv888952 7 109285171 109341605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517063 S 6533 0 1 "" SP57078 esv269727 7 109299521 109299805 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494692,essv2494920,essv2505721,essv2493994,essv2495640,essv2510811,essv2509645,essv2497485,essv2502150 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18520,NA18861,NA18871,NA18916,NA19116,NA19129,NA19147,NA19257 nsv831095 7 109305400 109499476 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446393 S 95 1 0 EIF3IP1 nsv888953 7 109321585 109435448 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548112 S 6533 0 1 EIF3IP1 MS17697 esv1660575 7 109327046 109327046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3897751 S 2 1 0 "" HuRef nsv888954 7 109345673 109403513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571344 S 6533 1 0 EIF3IP1 IS32699 nsv436555 7 109351331 109355256 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466402 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv888955 7 109426987 109507864 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583788 S 6533 0 1 "" IS36656 nsv888956 7 109432103 109561507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546160 S 6533 0 1 "" MS17114 esv275328 7 109446461 109468380 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585918 S 1250 0 1 "" nsv831096 7 109470388 109639679 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446394 S 95 0 1 "" esv2276225 7 109480757 109481148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978719 S 1 0 1 "" NA18507 nsv888957 7 109524155 109598536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534139 S 6533 0 1 "" MS11467 dgv2126e1 7 109550832 109699468 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10472,esv57 M 271 0 0 "" NA18515 dgv7440n71 7 109603754 109665111 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888958,nsv888960 M 6533 0 2 "" IS36219,SP50101 nsv888959 7 109603754 109698931 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581396 S 6533 0 1 "" IS35572 dgv7441n71 7 109636089 109668350 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888963,nsv888961,nsv888962 M 6533 0 5 "" SP52531,SP52717,SP56047,SP56173,SP81005 nsv888964 7 109658642 109726403 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555450 S 6533 1 0 "" MS21343 nsv888965 7 109665111 109731003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574224,nssv1565595,nssv1595986 M 6533 0 3 "" IS30478,IS33531,IS40380 esv268211 7 109739049 109739134 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513938 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv2542407 7 109789802 109791251 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366945 S 1 0 1 "" NA18507 dgv7442n71 7 109915050 109970858 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888967,nsv888966 M 6533 0 2 "" IS34289,IS36065 nsv888968 7 109931651 109991528 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571345 S 6533 1 0 "" IS32699 dgv7443n71 7 109934614 110121701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888970,nsv888969 M 6533 0 2 IMMP2L SP54362,SP58132 nsv5897 7 109948057 109995470 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9726,nssv3566 M 9 0 2 "" NA12878,NA18507 nsv437997 7 109962080 109972467 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469061,nssv469057,nssv469056,nssv469060,nssv469055,nssv469058,nssv469062,nssv469059 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA18570,NA18593,NA18632,NA18636,NA18952,NA18956,NA18991,NA19000 esv2502104 7 109967797 109975978 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239012 S 1 0 1 "" NA18507 nsv436534 7 109968005 109975773 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466403 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv520893 7 109968258 109971549 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697674 S 2026 1 0 "" nsv511368 7 109968258 109979397 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625972 S 1 0 1 "" 1 esv2559902 7 109968661 109976489 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298682 S 1 0 1 "" NA18507 esv2391776 7 109968999 109975865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604840 S 1 0 1 "" NA18507 nsv511986 7 109969075 109975673 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624530 S 1 0 1 "" 1 nsv8200 7 109969106 109976295 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16709,nssv15746,nssv14869,nssv18531,nssv16215,nssv16323,nssv15040,nssv16147,nssv18833,nssv15890,nssv15662,nssv17108,nssv18357,nssv15305,nssv19590,nssv16518,nssv16015,nssv15737,nssv17191,nssv18042,nssv16446 M 31 20 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA11830,NA12155,NA12802,NA18502,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18980,NA19007,NA19132,NA19173,NA19221,NA19240 dgv1128n67 7 109969117 109975749 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824264,nsv824266 M 31 0 13 "" AK10,AK12,AK18,AK20,AK8,NA18542,NA18547,NA18552,NA18570,NA18942,NA18969,NA18973,NA18999 nsv820590 7 109969117 109975749 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420696 S 1 0 1 "" NA10851 nsv819912 7 109969147 109975698 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419782 S 2 1 0 "" AK1 esv24984 7 109969207 109975675 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15331 S 451 23 2 "" NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12239,NA12749,NA12776,NA12828,NA15510,NA18508,NA18511,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514438 7 109969264 109974984 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627895 S 1414 0 1 "" nsv517674 7 109969650 109971549 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655533,nssv659883,nssv655847,nssv658480,nssv684845,nssv667808,nssv677498,nssv659488,nssv679908,nssv671880,nssv668087,nssv690201,nssv655922,nssv682143,nssv678336,nssv658111,nssv669101,nssv658727,nssv665525,nssv667694,nssv656131,nssv654415,nssv652989,nssv673353,nssv652785,nssv690666,nssv670637,nssv660084,nssv662476,nssv657729,nssv677954,nssv662801,nssv693794,nssv662439,nssv655436,nssv670546,nssv685429,nssv675120,nssv691317,nssv654923,nssv677003,nssv654939,nssv655015,nssv656022,nssv654764,nssv687507,nssv685653,nssv691964,nssv661748,nssv667206,nssv686787,nssv670987,nssv690186 M 2026 2 51 "" esv2421488 7 109969650 109972221 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5123785,essv5005599,essv5099761,essv5022828,essv5146779,essv5113161,essv5050774,essv5134405,essv5115945,essv5076389,essv5042938,essv5154903,essv5025989,essv5050595,essv5098416,essv5127475,essv5067801,essv5031698,essv5044631,essv5141348,essv5116702,essv5085288,essv5030828,essv5035121,essv5107913,essv5111965,essv5133933,essv5066968,essv5026826,essv5055257,essv5004727,essv5097440,essv5115407,essv5021598,essv5139151,essv5047140,essv5017543,essv5019815,essv5042963,essv5008291,essv5037738,essv5073921,essv5060104,essv5081067,essv5007835,essv5008225,essv5049034,essv5003414,essv5036142,essv5020836,essv5153856,essv5115551,essv5160823,essv5036701,essv5154403,essv5055128,essv5056088,essv5061645,essv5012575,essv5043139,essv5138591,essv5002010,essv5008033,essv5072007,essv5067084,essv5024901,essv5061085,essv5035340,essv5096936,essv5033862,essv5064148,essv5049328,essv5151950,essv5124503,essv5052437,essv5057309,essv5009186,essv5061458,essv5043941,essv5019684,essv5057786,essv5040457,essv5013384,essv5053075,essv5129693,essv5143847,essv5069912,essv5022551,essv5098846,essv5020310,essv5016068,essv5073602,essv5003935,essv5050280,essv5062648,essv5122433,essv5025002,essv5068116,essv5016239,essv5151996,essv5053996,essv5094250,essv5122002,essv5114512,essv5004093,essv5081124,essv5104536,essv5020062,essv5037517,essv5136821,essv5033278,essv5078137,essv5104699,essv5138430,essv5155164,essv5009280,essv5030396,essv5080829,essv5119797,essv5087080,essv5085612,essv5144929,essv5086235,essv5074080,essv5003452,essv5119165,essv5119425,essv5112662,essv5012934,essv5081876,essv5053316,essv5126272,essv5061541,essv5020383,essv5025567,essv5009830,essv5046200,essv5028742,essv5118318,essv5062237,essv5130542,essv5093064,essv5036720,essv5055932,essv5085325,essv5099282,essv5029266,essv5027570,essv5069775,essv5052995,essv5120794,essv5086745,essv5126877,essv5075960,essv5031788,essv5023455,essv5031421,essv5074409,essv5120987,essv5034742,essv5014878,essv5024331,essv5045938,essv5064214,essv5103241,essv5046815,essv5159603,essv5107560,essv5096951,essv5025127,essv5036081,essv5061975,essv5075163,essv5148072,essv5128144,essv5011600,essv5116887,essv5057091,essv5106675,essv5103160,essv5108088,essv5099987,essv5117944,essv5013641,essv5008156,essv5013051,essv5034271,essv5149192,essv5112993,essv5027807,essv5016692,essv5137737,essv5134886,essv5041833,essv5051756,essv5019251,essv5136094,essv5109505,essv5046211,essv5151810,essv5053034,essv5070459,essv5147554,essv5136885,essv5136402,essv5105574,essv5081983,essv5024642,essv5137853,essv5048745,essv5090295,essv5144194,essv5132972,essv5069128,essv5055368,essv5063600,essv5140478,essv5119506,essv5133125,essv5025161,essv5087725,essv5147619,essv5139693,essv5058268,essv5055266,essv5013105,essv5107494,essv5094604,essv5104345,essv5150178,essv5053166,essv5052633,essv5114356,essv5039795,essv5065552,essv5152221,essv5118891,essv5002105,essv5070005,essv5083589,essv5081753,essv5007302,essv5059568,essv5056572,essv5153360,essv5073280,essv5137483,essv5077486,essv5106683,essv5058101,essv5020846,essv5019905,essv5037024,essv5134963,essv5069980,essv5041900,essv5131596,essv5144497,essv5059512,essv5047869,essv5103706,essv5145734,essv5055766,essv5107939,essv5148096,essv5002270,essv5063559,essv5087522,essv5076651,essv5126951,essv5108333,essv5082440,essv5051282,essv5080182,essv5070589,essv5020822,essv5021606,essv5161155,essv5004548,essv5128394,essv5035633,essv5002159,essv5028592,essv5075418,essv5103298,essv5151986,essv5127826,essv5006619,essv5053787,essv5106802,essv5159307,essv5023538,essv5142035,essv5138768,essv5051003,essv5136309,essv5017292,essv5018536,essv5160306,essv5119044,essv5056063,essv5008719,essv5081741,essv5030717,essv5133691,essv5072431,essv5128457,essv5109885,essv5069005,essv5049529,essv5069188,essv5056072,essv5099266,essv5054516,essv5124730,essv5018702,essv5028617,essv5044245,essv5088970,essv5159195,essv5137224,essv5105375,essv5053229,essv5064998,essv5075147,essv5009069,essv5072626,essv5059047,essv5012928,essv5043493,essv5035915,essv5158279,essv5043546,essv5080289,essv5080049,essv5011121,essv5006972,essv5095370,essv5041509,essv5027390,essv5039470,essv5107653,essv5094598,essv5133971,essv5133212,essv5126621,essv5160019,essv5028144,essv5107578,essv5148026,essv5118055,essv5133582,essv5082368,essv5059646,essv5146544,essv5068683,essv5143607,essv5037573,essv5059437,essv5007696,essv5116512,essv5078130,essv5022555,essv5125274,essv5008310,essv5002028,essv5095487,essv5103226,essv5109244,essv5023814,essv5013971,essv5013649,essv5010040,essv5039554,essv5080820,essv5009615,essv5035330,essv5081960,essv5120378,essv5008122,essv5069359,essv5003146,essv5011596,essv5080007,essv5024582,essv5073931,essv5059591,essv5154551,essv5040989,essv5122273,essv5133864,essv5031021,essv5100967,essv5159780,essv5112534,essv5074257,essv5070863,essv5063237,essv5138086,essv5014097,essv5145742,essv5061518,essv5017939,essv5147989,essv5012357,essv5154719,essv5119894,essv5106256,essv5020718,essv5086633,essv5037837,essv5026811,essv5140320,essv5133310,essv5138675,essv5002069,essv5127649,essv5054847,essv5016102,essv5021726,essv5064349,essv5102682,essv5122267,essv5156267,essv5112559,essv5137739,essv5127642,essv5002067,essv5151272,essv5011343,essv5039314,essv5106903,essv5044856,essv5077089,essv5120413,essv5046695,essv5104901,essv5004273,essv5078169,essv5133330,essv5071192,essv5117959,essv5152678,essv5089995,essv5023284,essv5147574,essv5069229,essv5133997,essv5029842,essv5120212,essv5075655,essv5063582,essv5070838,essv5085455,essv5091594,essv5155750,essv5022180,essv5064726,essv5072254,essv5019711,essv5005916,essv5075448,essv5075630,essv5121000,essv5027383,essv5024651,essv5085798,essv5012181,essv5006837,essv5021413,essv5041118,essv5032314,essv5121455,essv5089039,essv5078794,essv5029733 M 1184 0 476 "" NA06985,NA06986,NA06991,NA06993,NA06995,NA06997,NA07000,NA07022,NA07037,NA07056,NA07346,NA07348,NA07349,NA07357,NA10830,NA10836,NA10839,NA10840,NA10843,NA10845,NA10846,NA10852,NA10853,NA10855,NA10859,NA10863,NA10865,NA11832,NA11881,NA11882,NA11891,NA11917,NA11920,NA11930,NA11993,NA12005,NA12006,NA12044,NA12045,NA12057,NA12144,NA12234,NA12249,NA12264,NA12275,NA12283,NA12286,NA12287,NA12335,NA12340,NA12344,NA12348,NA12375,NA12376,NA12383,NA12489,NA12707,NA12708,NA12718,NA12739,NA12740,NA12749,NA12750,NA12751,NA12752,NA12760,NA12761,NA12767,NA12775,NA12778,NA12801,NA12812,NA12817,NA12827,NA12828,NA12830,NA12832,NA12842,NA12843,NA12872,NA12874,NA12877,NA12878,NA12889,NA12890,NA12891,NA17965,NA17968,NA17969,NA17970,NA17972,NA17979,NA17988,NA17989,NA17990,NA18122,NA18129,NA18134,NA18140,NA18149,NA18151,NA18152,NA18156,NA18157,NA18484,NA18486,NA18497,NA18498,NA18499,NA18503,NA18504,NA18505,NA18506,NA18507,NA18510,NA18515,NA18516,NA18517,NA18529,NA18542,NA18543,NA18546,NA18552,NA18559,NA18570,NA18571,NA18573,NA18577,NA18594,NA18596,NA18599,NA18602,NA18603,NA18612,NA18615,NA18618,NA18620,NA18630,NA18636,NA18640,NA18641,NA18645,NA18670,NA18674,NA18682,NA18685,NA18694,NA18704,NA18745,NA18747,NA18852,NA18855,NA18857,NA18861,NA18862,NA18867,NA18871,NA18872,NA18873,NA18874,NA18875,NA18912,NA18914,NA18923,NA18925,NA18940,NA18942,NA18943,NA18973,NA18975,NA18990,NA18991,NA18993,NA18998,NA19002,NA19027,NA19028,NA19035,NA19036,NA19046,NA19056,NA19058,NA19060,NA19066,NA19072,NA19076,NA19093,NA19094,NA19098,NA19101,NA19103,NA19107,NA19109,NA19114,NA19115,NA19116,NA19117,NA19118,NA19120,NA19121,NA19123,NA19127,NA19143,NA19144,NA19146,NA19148,NA19152,NA19154,NA19160,NA19161,NA19174,NA19175,NA19182,NA19183,NA19192,NA19194,NA19207,NA19208,NA19210,NA19211,NA19214,NA19215,NA19222,NA19239,NA19247,NA19249,NA19256,NA19258,NA19309,NA19315,NA19317,NA19321,NA19327,NA19328,NA19334,NA19346,NA19347,NA19352,NA19359,NA19360,NA19372,NA19375,NA19376,NA19379,NA19381,NA19384,NA19385,NA19391,NA19394,NA19404,NA19429,NA19431,NA19434,NA19436,NA19438,NA19440,NA19443,NA19444,NA19448,NA19452,NA19456,NA19457,NA19467,NA19470,NA19473,NA19654,NA19656,NA19658,NA19660,NA19662,NA19670,NA19675,NA19676,NA19677,NA19679,NA19680,NA19685,NA19686,NA19700,NA19703,NA19704,NA19708,NA19712,NA19713,NA19714,NA19718,NA19722,NA19725,NA19726,NA19727,NA19747,NA19748,NA19749,NA19750,NA19751,NA19770,NA19771,NA19772,NA19773,NA19775,NA19776,NA19778,NA19794,NA19795,NA19796,NA19834,NA19904,NA19908,NA19916,NA19982,NA19985,NA20127,NA20289,NA20291,NA20292,NA20297,NA20300,NA20317,NA20322,NA20332,NA20337,NA20341,NA20342,NA20344,NA20345,NA20348,NA20356,NA20357,NA20358,NA20359,NA20363,NA20364,NA20502,NA20504,NA20508,NA20510,NA20518,NA20521,NA20524,NA20527,NA20528,NA20530,NA20531,NA20539,NA20540,NA20542,NA20543,NA20544,NA20582,NA20589,NA20752,NA20753,NA20754,NA20757,NA20758,NA20760,NA20761,NA20765,NA20766,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20778,NA20786,NA20796,NA20799,NA20800,NA20802,NA20803,NA20805,NA20816,NA20818,NA20819,NA20826,NA20828,NA20851,NA20852,NA20870,NA20872,NA20875,NA20882,NA20884,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20898,NA20899,NA20900,NA20901,NA20903,NA20906,NA20907,NA20910,NA21086,NA21088,NA21098,NA21101,NA21103,NA21106,NA21111,NA21116,NA21119,NA21125,NA21137,NA21141,NA21307,NA21333,NA21352,NA21353,NA21356,NA21359,NA21360,NA21361,NA21367,NA21368,NA21371,NA21379,NA21382,NA21384,NA21385,NA21386,NA21387,NA21389,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21418,NA21420,NA21421,NA21440,NA21442,NA21447,NA21448,NA21476,NA21477,NA21478,NA21480,NA21486,NA21487,NA21491,NA21493,NA21494,NA21524,NA21528,NA21529,NA21573,NA21577,NA21582,NA21587,NA21616,NA21620,NA21631,NA21634,NA21635,NA21682,NA21685,NA21686,NA21693,NA21716,NA21719,NA21723,NA21733,NA21738,NA21739,NA21768,NA21825 nsv433483 7 109969650 109972221 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463364 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18507 nsv464670 7 109969650 109979397 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540546 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01172 nsv527727 7 109969650 109979397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704208 S 2026 0 1 "" nsv888971 7 110000274 110089347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591723 S 6533 0 1 "" IS39011 dgv426n21 7 110059663 110089931 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528095,nsv522720 M 2026 0 2 "" nsv464671 7 110089931 110130248 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540547 S 1557 1 0 IMMP2L NINDS_208 nsv464673 7 110105263 110241592 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540549 S 1557 1 0 IMMP2L 1798860072_A esv21685 7 110215626 110219927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18619,esv17547 M 451 0 2 IMMP2L NA18916,NA19190 esv2421473 7 110216168 110219730 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5088215,essv5058434,essv5058223,essv5038854,essv5084919,essv5050642,essv5061024,essv5099147,essv5060518,essv5034658,essv5119836,essv5135499,essv5074118,essv5035501,essv5021966,essv5065462,essv5121787,essv5059633,essv5123851,essv5040455,essv5103677,essv5037376,essv5018102,essv5110152,essv5017108,essv5101840,essv5116162,essv5108050,essv5073750,essv5106883 M 1184 0 30 IMMP2L NA18498,NA18503,NA18504,NA18509,NA18518,NA18520,NA18916,NA18930,NA19098,NA19107,NA19130,NA19149,NA19151,NA19153,NA19176,NA19192,NA19315,NA19390,NA19431,NA19908,NA19919,NA20287,NA20322,NA20332,NA20333,NA20341,NA20348,NA20890,NA21424,NA21596 nsv442061 7 110216246 110219730 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 IMMP2L nsv514439 7 110217976 110219728 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627896 S 1414 0 0 IMMP2L nsv888972 7 110257865 110422733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594309 S 6533 1 0 IMMP2L IS39783 esv273756 7 110271958 110272094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581859,essv2582749,essv2583208,essv2584110,essv2584820,essv2583767 M 7 6 0 Samples from several populations that are part of the HapMap project. IMMP2L NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268189 7 110271968 110272109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565789,essv2576071,essv2521092,essv2525846,essv2536549,essv2522962,essv2543903,essv2570903,essv2556800,essv2568344,essv2545633,essv2523307,essv2532022,essv2570622,essv2576892,essv2550791,essv2550331,essv2535150,essv2544310,essv2552132,essv2520422,essv2529338,essv2564067,essv2530887,essv2537296,essv2546907,essv2540204,essv2520856,essv2557139,essv2532441,essv2558903,essv2527242,essv2561498,essv2544980,essv2562851,essv2523791,essv2552814,essv2538288,essv2542988,essv2540664,essv2524689,essv2565152,essv2534804,essv2561152,essv2539798,essv2549392,essv2519905,essv2559975,essv2521929,essv2566287,essv2531223,essv2532788,essv2528886,essv2567545,essv2541517,essv2570239,essv2563855,essv2535762,essv2572418,essv2559277,essv2541990,essv2550881,essv2543447,essv2556358,essv2527812,essv2562511,essv2539478,essv2533825,essv2578438,essv2573188,essv2555216,essv2533611,essv2555721,essv2567158,essv2566434,essv2529865,essv2573845,essv2527555,essv2556041,essv2531341,essv2573732,essv2543105,essv2571949,essv2525633,essv2526951,essv2529449,essv2575682,essv2575187,essv2538818,essv2526371,essv2524049,essv2560906,essv2574569,essv2568677,essv2545247,essv2560339,essv2549796,essv2571262,essv2545943,essv2574314,essv2551517,essv2535970,essv2537881,essv2533265,essv2554714,essv2547687,essv2525101,essv2563238 M 157 108 0 Samples from several populations that are part of the HapMap project. IMMP2L NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA11829,NA11830,NA11894,NA11918,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12044,NA12154,NA12155,NA12234,NA12249,NA12414,NA12489,NA12716,NA12749,NA12828,NA12873,NA12878,NA12892,NA18489,NA18498,NA18501,NA18505,NA18516,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18856,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv26791 7 110271983 110272748 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10384 S 451 0 2 IMMP2L NA11894,NA18505 nsv365322 7 110271987 110271987 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383900 M 24 IMMP2L esv273687 7 110288938 110289023 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581259 S 7 1 0 Samples from several populations that are part of the HapMap project. IMMP2L NA19240 nsv526883 7 110296372 110296815 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703241 S 2026 1 0 IMMP2L dgv7444n71 7 110296815 110486888 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888974,nsv888973 M 6533 0 3 IMMP2L MS20237,MS21771,MS23423 dgv2127e1 7 110310534 110575085 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv63,essv15452 M 271 0 0 IMMP2L,LRRN3 NA18505 esv2385229 7 110323611 110324124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720661 S 1 0 1 IMMP2L NA18507 esv5171 7 110323705 110324020 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27612 S 1 0 1 Single Asian sample YH IMMP2L YH dgv235n6 7 110323770 110323956 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv366373,nsv365591 M 24 IMMP2L esv1010951 7 110323776 110323955 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582561 S 3 0 1 IMMP2L HuRef esv3906 7 110329857 110330318 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26347 S 1 0 1 Single Asian sample YH IMMP2L YH esv8850 7 110329921 110330237 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31291 S 1 0 1 IMMP2L SJK esv989131 7 110329922 110330247 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582948 S 3 0 1 IMMP2L HuRef esv1139378 7 110329934 110330260 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256151 S 2 0 1 IMMP2L HuRef esv9669 7 110332236 110332328 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32110 S 1 1 0 IMMP2L SJK nsv11 7 110365703 110366460 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv11 S 1 1 0 IMMP2L NA15510 nsv5898 7 110365703 110366460 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11159 S 9 1 0 IMMP2L NA15510 nsv888975 7 110400921 110464892 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560854 S 6533 0 1 IMMP2L MS24736 nsv824267 7 110506315 110506768 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436739 S 31 0 1 IMMP2L NA18542 nsv515693 7 110515417 110530838 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670724,nssv664439,nssv685523,nssv665621,nssv664556,nssv685131,nssv662032 M 2026 7 0 IMMP2L,LRRN3 dgv7445n71 7 110560335 110747117 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888976,nsv888978 M 6533 0 2 IMMP2L IS38541,SP51031 nsv464674 7 110563273 110649119 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540550 S 1557 0 1 IMMP2L 1780862532_A esv2752141 7 110575206 110900827 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985211,essv6985210 M 771 0 1 IMMP2L SPC_124 nsv888977 7 110585295 110895496 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522667 S 6533 0 1 IMMP2L SP53329 essv21989 7 110588147 110752769 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. IMMP2L NA11995 nsv428183 7 110588147 110752769 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451212 S 62 0 1 IMMP2L HGDP00462 dgv2128e1 7 110588147 111092061 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv868,essv6757 M 271 0 0 IMMP2L NA18562 nsv464675 7 110601044 110638789 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540551 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IMMP2L HGDP01387 nsv470384 7 110601044 110711525 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546120,nssv546131 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IMMP2L HGDP00462,HGDP01387 dgv427n21 7 110601044 110900089 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519251,nsv527155,nsv528235 M 2026 0 3 IMMP2L nsv437027 7 110601101 110680087 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466908 S 60 0 1 Samples from several populations that are part of the HapMap project. IMMP2L NA10861 esv26741 7 110605299 110670708 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17279,esv18902 M 451 0 2 IMMP2L NA11995,NA19225 nsv519432 7 110608054 110620072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656187,nssv657515,nssv673098,nssv696882 M 2026 0 4 IMMP2L nsv818545 7 110608054 110668954 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415901,nssv1415902 M 112 0 2 IMMP2L NA10861,NA11995 dgv29e196 7 110608962 110945310 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422443,esv2422497 M 181 0 2 IMMP2L ND01675,ND04534 nsv888979 7 110614409 110702575 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519425 S 6533 0 1 IMMP2L SP81024 dgv428n21 7 110620072 111152979 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527658,nsv517394 M 2026 0 39 IMMP2L esv6655 7 110623030 110623125 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29096 S 1 1 0 IMMP2L SJK esv1003541 7 110623066 110623066 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569574 S 3 1 0 IMMP2L HuRef esv1751628 7 110623067 110623067 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337648 S 2 1 0 IMMP2L HuRef nsv437998 7 110625334 110668954 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469064,nssv469065,nssv469066,nssv469067 M 269 0 2 Samples from several populations that are part of the HapMap project. IMMP2L NA10861,NA11995 nsv888980 7 110625334 110679295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568543 S 6533 0 1 IMMP2L IS31302 nsv888981 7 110631031 110662389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564729 S 6533 0 1 IMMP2L IS30292 nsv888982 7 110631031 110806080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558753 S 6533 0 1 IMMP2L MS23531 dgv7446n71 7 110656668 110791540 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888987,nsv888983 M 6533 0 2 IMMP2L IS33530,MS22104 esv2599634 7 110661001 110662420 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356477 S 1 0 1 IMMP2L NA18507 dgv7447n71 7 110670566 111138748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888985,nsv888998,nsv888997,nsv888986,nsv888984 M 6533 0 8 IMMP2L MS18276,MS20828,MS21283,MS25139,SP50834,SP56828,SP80938,SP81241 nsv888988 7 110684238 110723116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527043 S 6533 0 1 IMMP2L SP58091 dgv7448n71 7 110685358 110895496 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888990,nsv888989,nsv888992 M 6533 0 4 IMMP2L IS33240,IS40239,IS40606,SP53256 nsv464676 7 110691462 110973929 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540552 S 1557 0 1 IMMP2L 1780854097_A dgv7449n71 7 110713312 110831613 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888991,nsv888995 M 6533 0 2 IMMP2L IS33576,MS23194 dgv7450n71 7 110733007 110810558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888994,nsv888993 M 6533 0 2 IMMP2L IS32289,SP54930 dgv7451n71 7 110736802 111046847 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889021,nsv888996,nsv889003,nsv889023,nsv889022 M 6533 0 5 IMMP2L IS30111,IS38378,MS23191,MS24732,SP56870 nsv464677 7 110745591 110866148 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540553 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IMMP2L HGDP00550 dgv7452n71 7 110747117 110909710 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv888999,nsv889000,nsv889002,nsv889001,nsv889012 M 6533 0 32 IMMP2L MS11338,MS11552,MS11565,MS11765,MS12555,MS13025,MS13252,MS13512,MS13808,MS14359,MS14683,MS15083,MS15539,MS15873,MS16153,MS17224,MS17489,MS18190,MS18332,MS19035,MS20039,MS20616,MS21795,MS22008,MS22707,MS23077,MS23178,MS23587,MS24031,MS24873,MS24987,SP55642 nsv889004 7 110761280 110847122 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589572,nssv1588943,nssv1599111 M 6533 0 3 IMMP2L IS38269,IS38384,IS41410 nsv437566 7 110765939 110775956 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467447 S 60 0 1 Samples from several populations that are part of the HapMap project. IMMP2L NA19194 esv34648 7 110768285 110901285 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988185,essv6979483,essv6979482,essv6989097 M 771 0 1 IMMP2L NA18562 dgv7453n71 7 110780405 110847122 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889009,nsv889005 M 6533 0 2 IMMP2L MS10872,MS24939 dgv7454n71 7 110780405 110883322 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889020,nsv889010,nsv889011,nsv889007,nsv889008,nsv889006 M 6533 0 6 IMMP2L IS35701,MS16345,MS16616,MS18365,MS20627,MS21730 dgv7455n71 7 110783973 110967780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889018,nsv889017,nsv889015,nsv889013,nsv889016,nsv889014 M 6533 0 10 IMMP2L MS17527,SP50791,SP51413,SP53068,SP54661,SP54861,SP54913,SP55267,SP55851,SP56023 dgv2129e1 7 110792460 111048906 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18226,essv933 M 271 0 0 IMMP2L NA12057,NA18949 essv2096 7 110792460 111092061 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. IMMP2L NA18949 esv2752142 7 110794285 111105700 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983138,essv6989740,essv6989347,essv6983137 M 771 0 1 IMMP2L BEC_546 nsv889019 7 110795957 110841058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514224 S 6533 0 1 IMMP2L SP55984 nsv8201 7 110807477 110810146 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15920 S 31 0 1 Samples from several populations that are part of the HapMap project. IMMP2L NA18853 esv21855 7 110809909 110887301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19567,esv18033,esv11516 M 451 0 4 IMMP2L NA07037,NA12006,NA18511,NA18909 nsv464678 7 110810558 110816800 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540554 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IMMP2L HGDP00463 dgv7456n71 7 110816800 110918008 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889025,nsv889024 M 6533 0 2 IMMP2L SP50977,SP50997 nsv464679 7 110816800 110947592 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540555 S 1557 1 0 IMMP2L 1780854517_A nsv824268 7 110822956 110830283 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434500 S 31 0 1 IMMP2L NA18570 nsv442062 7 110824661 110829589 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 IMMP2L esv2422088 7 110824661 110829591 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5076184,essv5098701,essv5077083,essv5044041,essv5031073,essv5070733,essv5089124,essv5143146,essv5112177,essv5024280,essv5142898,essv5070201,essv5124554,essv5063522,essv5100275,essv5046074 M 1184 0 16 IMMP2L NA07037,NA12057,NA18562,NA18570,NA18948,NA18973,NA19001,NA19005,NA19010,NA19054,NA19067,NA19077,NA19080,NA20854,NA20856,NA20892 nsv514440 7 110826944 110829616 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627897 S 1414 0 1 IMMP2L nsv437567 7 110832207 110867973 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467448 S 60 0 1 Samples from several populations that are part of the HapMap project. IMMP2L NA18500 nsv818546 7 110832207 110900089 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416248 S 112 0 1 IMMP2L NA12057 esv2422098 7 110835811 110844118 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013817,essv5054366,essv5087107,essv5129994,essv5101660,essv5039403,essv5004030,essv5108660,essv5137628,essv5093486,essv5036823,essv5046841,essv5014731,essv5009684,essv5123542,essv5099594,essv5139783,essv5102787,essv5083142,essv5096091,essv5058601,essv5014908,essv5132945,essv5087131,essv5101249,essv5073732,essv5012809,essv5148683,essv5066455,essv5062660 M 1184 0 30 IMMP2L NA07037,NA12057,NA18500,NA18501,NA18511,NA18562,NA18852,NA18909,NA18912,NA18917,NA19067,NA19093,NA19119,NA19185,NA19186,NA19373,NA19374,NA19385,NA19904,NA20281,NA20322,NA20854,NA20856,NA20892,NA21402,NA21404,NA21521,NA21608,NA21615,NA21689 nsv442105 7 110835811 110844118 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 IMMP2L nsv514441 7 110836112 110844096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627898 S 1414 0 1 IMMP2L nsv8203 7 110852310 110855395 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16177,nssv15994 M 31 0 2 Samples from several populations that are part of the HapMap project. IMMP2L NA10839,NA11830 dgv7457n71 7 110853702 110919879 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889028,nsv889026 M 6533 0 2 IMMP2L IS34789,MS26073 nsv824269 7 110855265 111045939 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437524 S 31 0 1 IMMP2L NA18949 esv268035 7 110855844 110856047 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510589,essv2508994,essv2513263,essv2507367,essv2495622,essv2509467 M 157 6 0 Samples from several populations that are part of the HapMap project. IMMP2L NA18501,NA18522,NA18907,NA18912,NA18916,NA19129 nsv889027 7 110857182 111046847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515251 S 6533 0 1 IMMP2L SP56143 nsv889029 7 110860946 110956463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500017 S 6533 0 1 IMMP2L SP50593 nsv464680 7 110866148 110970846 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540556 S 1557 0 1 IMMP2L 1780854210_A nsv470385 7 110866148 110987007 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546143 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IMMP2L HGDP00895 nsv818547 7 110866148 111029397 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417387 S 112 0 1 IMMP2L NA18949 nsv889030 7 110872854 110933422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514980 S 6533 1 0 IMMP2L SP56106 nsv8204 7 110881716 110945627 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14561,nssv16588 M 31 1 1 Samples from several populations that are part of the HapMap project. IMMP2L NA12872,NA19144 nsv889031 7 110900089 110987007 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593793 S 6533 0 1 IMMP2L IS39521 dgv7458n71 7 110900089 111126464 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889032,nsv889036,nsv889035,nsv889038 M 6533 0 9 IMMP2L IS30270,IS30384,IS32651,IS38149,IS38465,IS39372,IS40707,IS41906,SP52553 esv7797 7 110906410 110906499 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30238 S 1 1 0 IMMP2L SJK dgv7459n71 7 110919879 110987007 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889034,nsv889033,nsv889037 M 6533 0 6 IMMP2L IS33221,IS35506,IS40062,SP52612,SP52751,SP81264 nsv464684 7 110944768 110973929 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540558 S 1557 0 1 IMMP2L 1780862345_A nsv464685 7 110947132 111065681 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540559 S 1557 0 1 IMMP2L NINDS_29 nsv366312 7 110966461 110966532 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384890 M 24 IMMP2L nsv464686 7 110978436 111116318 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540560 S 1557 0 1 IMMP2L 1780854491_A dgv7460n71 7 110980473 111138748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889044,nsv889039,nsv889042,nsv889048,nsv889040,nsv889043,nsv889047 M 6533 0 75 IMMP2L MS10311,MS10444,MS10548,MS10807,MS10947,MS11165,MS11204,MS11241,MS11652,MS11694,MS12542,MS12555,MS12968,MS12983,MS13019,MS13444,MS13451,MS13498,MS13621,MS13916,MS14374,MS14943,MS15191,MS15269,MS15385,MS15826,MS15834,MS15873,MS16126,MS16265,MS16711,MS16801,MS17056,MS17112,MS17484,MS17485,MS17502,MS17678,MS17869,MS18159,MS18821,MS18947,MS19372,MS19587,MS19831,MS20239,MS20247,MS20632,MS20702,MS20885,MS21428,MS21550,MS21758,MS22273,MS22619,MS22741,MS22999,MS23412,MS23460,MS23587,MS23685,MS23796,MS24187,MS24426,MS24620,MS24738,MS24909,MS25092,MS25486,MS25526,MS25553,MS25887,MS25941,MS26019,SP54122 nsv889041 7 110993130 111085227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563005,nssv1551905 M 6533 0 2 "" MS19008,MS25814 nsv889045 7 111002694 111046847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513478 S 6533 0 1 "" SP55787 nsv464687 7 111015409 111109991 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540561 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00664 nsv470386 7 111015409 111116572 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546154,nssv546165 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00664,HGDP00789 nsv889046 7 111015684 111075216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598868 S 6533 1 0 "" IS41068 esv2752143 7 111016229 111123819 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983721,essv6989846,essv6983720 M 771 0 1 "" BEC_617 esv26102 7 111019447 111020231 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12474 S 451 1 0 "" NA19225 nsv889049 7 111034187 111116318 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590033 S 6533 0 1 "" IS38446 nsv5900 7 111034493 111049792 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5016 S 9 0 1 "" NA19129 nsv8205 7 111035495 111044503 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16739 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv499695 7 111037585 111043815 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586041 S 9 0 1 "" nsv514442 7 111038464 111042928 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627899 S 1414 0 1 "" esv23153 7 111038508 111044352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17054 S 451 0 1 "" NA19129 dgv7461n71 7 111052498 111138748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889053,nsv889050 M 6533 0 2 "" IS30389,MS18922 dgv7462n71 7 111062889 111101518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889051,nsv889052 M 6533 0 2 "" SP52082,SP54373 esv32945 7 111074475 111095098 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97692 S 51 0 1 "" 22278 nsv507409 7 111103581 111109581 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623014,nssv620389,nssv621885 M 4 3 0 "" NA10860,NA15510,NA18994 nsv5901 7 111215519 111260204 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8416 S 9 0 1 DOCK4 NA12156 esv2621161 7 111352609 111354390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368875 S 1 0 1 DOCK4 NA18507 esv2422365 7 111360255 112415163 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161410 S 181 1 0 C7orf53,C7orf60,DOCK4,IFRD1,TMEM168,ZNF277 ND01757 nsv464689 7 111375752 112528071 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540562 S 1557 1 0 C7orf53,C7orf60,DOCK4,GPR85,IFRD1,TMEM168,ZNF277 NINDS_40 nsv889054 7 111454179 111527078 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580104 S 6533 0 1 DOCK4 IS35229 esv9335 7 111470742 111471370 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31776 S 1 0 1 DOCK4 SJK nsv516034 7 111518203 111546820 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661159,nssv676394,nssv659362,nssv663451,nssv665845 M 2026 0 5 DOCK4 nsv824270 7 111561863 111562448 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424305 S 31 0 1 DOCK4 NA18582 esv268074 7 111666047 111666313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510166,essv2506772,essv2495456,essv2502496,essv2503793,essv2493489,essv2497285,essv2500689,essv2500135,essv2509984,essv2499301,essv2501638,essv2501065,essv2512775 M 157 14 0 Samples from several populations that are part of the HapMap project. ZNF277 NA10851,NA11918,NA11919,NA12750,NA12761,NA12763,NA18545,NA18571,NA18573,NA18593,NA18605,NA18608,NA18856,NA18980 nsv5902 7 111739364 111784501 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8417 S 9 0 1 ZNF277 NA12156 nsv5903 7 111785864 111795087 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5017 S 9 1 0 "" NA19129 nsv831097 7 111788073 111900409 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446397,nssv1446396 M 95 2 0 IFRD1 nsv889055 7 111961325 112140676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565805 S 6533 0 1 "" IS30522 nsv507410 7 112020255 112026255 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621886 S 4 1 0 "" NA10860 esv22299 7 112030686 112031855 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16634 S 451 0 1 "" NA18909 nsv5904 7 112056300 112086225 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11160 S 9 1 0 "" NA15510 nsv507411 7 112062046 112068046 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623015,nssv621887,nssv617746,nssv620390 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv523811 7 112083170 112091403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699641 S 2026 0 1 "" nsv7405 7 112147851 121027925 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9727 S 9 0 0 ANKRD7,ASZ1,C7orf58,C7orf60,CAPZA2,CAV1,CAV2,CFTR,CTTNBP2,FAM3C,FOXP2,GPR85,ING3,KCND2,LOC401397,MDFIC,MET,MIR3666,NAA38,PPP1R3A,ST7,ST7-AS1,ST7-AS2,ST7-OT3,ST7-OT4,TES,TFEC,TMEM168,TSPAN12,WNT16,WNT2 NA18507 nsv528753 7 112161232 112165439 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705415 S 2026 0 1 "" esv2752144 7 112185608 112287160 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986388,essv6983268 M 771 1 0 C7orf60,TMEM168 BEC_560 esv2752145 7 112221285 112287285 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983969,essv6987462 M 771 1 0 C7orf60 BEC_738 esv1711379 7 112224608 112224608 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908619 S 2 1 0 "" HuRef nsv5905 7 112232661 112309033 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6162,nssv10575 M 9 0 2 C7orf60 NA12156,NA18956 dgv2130e1 7 112279363 112555864 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12601,esv419 M 271 0 0 C7orf60,GPR85,LOC401397 NA19098 nsv499470 7 112300231 112307944 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586042 S 9 0 1 C7orf60 esv2421832 7 112300902 112307732 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5124939,essv5007078,essv5039028,essv5114411,essv5067609,essv5098658,essv5076499,essv5151450,essv5015274,essv5028460,essv5118765,essv5144052,essv5074871,essv5040192,essv5029038,essv5079443,essv5083272,essv5041295,essv5144206,essv5082159,essv5132382,essv5016735,essv5026599,essv5116216,essv5092940,essv5120365,essv5015125,essv5031373 M 1184 0 28 C7orf60 NA17975,NA17998,NA18107,NA18108,NA18112,NA18127,NA18140,NA18147,NA18151,NA18161,NA18582,NA18597,NA18605,NA18622,NA18627,NA18632,NA18636,NA18949,NA18956,NA18966,NA18969,NA18977,NA18997,NA18998,NA19005,NA19068,NA19070,NA19085 nsv442063 7 112301356 112305297 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C7orf60 dgv1129n67 7 112301730 112307949 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824271,nsv824272 M 31 0 6 C7orf60 AK14,AK8,NA18582,NA18949,NA18969,NA18997 nsv514443 7 112301928 112307472 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627900 S 1414 0 1 C7orf60 esv1025103 7 112403945 112403945 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321175 S 2 1 0 "" HuRef nsv435847 7 112405812 112921258 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466404 S 2 0 1 GPR85,LOC401397 NA15510 nsv5906 7 112419155 112454438 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3567 S 9 1 0 "" NA12878 dgv7463n71 7 112440090 112524458 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889058,nsv889057,nsv889056 M 6533 0 3 GPR85 IS35743,IS41924,MS22104 nsv5907 7 112482936 112508878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv677 S 9 1 0 GPR85 NA19240 nsv889059 7 112542784 112696024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577889 S 6533 0 1 LOC401397 IS34599 nsv889060 7 112553318 112781373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564872 S 6533 0 1 "" IS30311 esv272101 7 112576820 112577874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510263,essv2510127,essv2505548,essv2503840,essv2494229,essv2493192,essv2506272,essv2505755,essv2501466,essv2504776,essv2506929,essv2506493,essv2499154,essv2499637,essv2502019,essv2495079 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11829,NA12154,NA12761,NA18502,NA18504,NA18523,NA18861,NA19093,NA19099,NA19102,NA19108,NA19114,NA19225,NA19257 esv1631642 7 112645869 112645869 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807123 S 2 1 0 "" HuRef nsv889061 7 112659162 112774886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553663 S 6533 0 1 "" MS20237 esv2458421 7 112667120 112667898 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286617 S 1 1 0 "" NA18507 nsv5908 7 112667757 112700279 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6163 S 9 1 0 "" NA12156 nsv464690 7 112696024 112777008 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540563 S 1557 0 1 "" 1780862576_A nsv889062 7 112707316 112925283 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527482 S 6533 1 0 "" SP58450 nsv5909 7 112709961 112736335 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3568 S 9 1 0 "" NA12878 nsv831098 7 112723947 112878080 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446398 S 95 1 0 "" esv999820 7 112766856 112766856 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566094 S 3 1 0 "" HuRef nsv824273 7 112810452 112811118 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436742 S 31 0 1 "" NA18542 esv1077735 7 112921395 112921498 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807389 S 2 0 1 "" HuRef nsv464691 7 112927103 112935323 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540564 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00068 nsv889063 7 112935323 113050636 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566549 S 6533 0 1 "" IS30775 nsv831099 7 112975939 113141486 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446399 S 95 0 1 "" nsv824274 7 113005942 113007604 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425071 S 31 0 1 "" AK2 esv269958 7 113089838 113091620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516545 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv889064 7 113100610 113220677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546161 S 6533 0 1 "" MS17114 nsv824275 7 113119276 113119847 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424309 S 31 1 0 "" NA18582 nsv889065 7 113142601 113220677 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569088 S 6533 0 1 "" IS31419 nsv510967 7 113190433 113211188 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622382 S 4 0 0 "" NA10860 nsv5911 7 113197793 113234079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5018,nssv10576,nssv1682,nssv3569,nssv678 M 9 0 5 "" NA12878,NA18555,NA18956,NA19129,NA19240 nsv508476 7 113202267 113211188 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619999,nssv622583,nssv617351 M 4 0 3 "" CHM,NA15510,NA18994 dgv125n16 7 113202288 113209831 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435852,nsv436531 M 2 0 2 "" NA15510,NA18505 esv2499862 7 113202791 113210176 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265996 S 1 0 1 "" NA18507 esv2468396 7 113202840 113210852 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224631 S 1 0 1 "" NA18507 dgv170e180 7 113203138 113210648 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv987718,esv996979 M 3 0 1 "" HuRef esv2240635 7 113203206 113209632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572501 S 1 0 1 "" NA18507 nsv511987 7 113203290 113209587 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624531 S 1 0 1 "" 1 esv4918 7 113203346 113209501 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27359 S 1 0 1 Single Asian sample YH "" YH nsv499232 7 113203397 113209459 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586043 S 9 0 1 "" esv8337 7 113203408 113209442 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30778 S 1 0 1 "" SJK esv1457844 7 113203412 113209458 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792229 S 2 0 1 "" HuRef nsv366396 7 113203413 113209458 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384974 M 24 "" nsv831100 7 113248312 113404664 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446400 S 95 1 0 PPP1R3A nsv510108 7 113256699 113262699 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622145 S 4 0 1 "" NA10860 nsv824277 7 113304009 113304515 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436743 S 31 0 1 PPP1R3A NA18542 esv25353 7 113353068 113388471 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12171 S 451 1 0 "" NA19257 nsv436549 7 113439761 113447716 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466408 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv23067 7 113440049 113446491 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20789 S 451 0 1 "" NA18505 esv272943 7 113441634 113441971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581362 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv23722 7 113514125 113515838 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18045 S 451 1 0 FOXP2 NA12044 nsv5912 7 113632906 113669763 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8418 S 9 0 1 FOXP2 NA12156 nsv428184 7 113638849 113812732 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451244 S 62 0 1 FOXP2 HGDP00473 nsv524438 7 113650620 113670153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700368 S 2026 0 1 FOXP2 esv273175 7 113656016 113656231 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580836 S 7 1 0 Samples from several populations that are part of the HapMap project. FOXP2 NA19238 esv271343 7 113656071 113656430 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510209,essv2493287,essv2496243,essv2498643,essv2493922,essv2506482,essv2510855,essv2497033,essv2512179 M 157 9 0 Samples from several populations that are part of the HapMap project. FOXP2 NA10851,NA18504,NA18511,NA18858,NA18871,NA19108,NA19116,NA19190,NA19238 nsv464692 7 113708363 113785482 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540565 S 1557 0 1 FOXP2 1780862574_A nsv889066 7 113711455 113977879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565954 S 6533 0 1 FOXP2 IS30539 nsv831101 7 113718799 113919071 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446401 S 95 1 0 FOXP2 esv1301656 7 113719301 113719301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198906 S 2 1 0 FOXP2 HuRef esv2606618 7 113740136 113741805 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183396 S 1 0 1 FOXP2 NA18507 esv2355906 7 113740542 113741250 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794634 S 1 0 1 FOXP2 NA18507 esv4263 7 113740683 113741195 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26704 S 1 0 1 Single Asian sample YH FOXP2 YH dgv236n6 7 113740738 113741066 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv366402,nsv366764 M 24 FOXP2 esv5844 7 113740749 113741048 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28285 S 1 0 1 FOXP2 SJK dgv7464n71 7 113820780 113977879 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889067,nsv889068,nsv889070,nsv889069 M 6533 0 5 FOXP2 IS35145,IS39718,MS13426,MS18978,MS20872 nsv521910 7 113867671 113873430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694681 S 2026 0 1 FOXP2 nsv464693 7 113873430 113932542 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540566 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FOXP2 HGDP00043 nsv5913 7 113974137 114006663 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3570 S 9 1 0 FOXP2 NA12878 esv1007485 7 114015170 114015173 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575378 S 3 1 0 FOXP2 HuRef nsv365730 7 114039668 114039668 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384308 M 24 FOXP2 esv275536 7 114142333 114147908 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585138,essv2585531 M 1250 1 1 "" esv1464336 7 114316187 114316241 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191270 S 2 0 1 "" HuRef esv3602 7 114317782 114318142 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26043 S 1 0 1 Single Asian sample YH "" YH nsv526154 7 114369427 114372905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702413 S 2026 0 1 MDFIC nsv819577 7 114437594 114438835 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419210 S 2 0 1 MDFIC AK1 esv1004610 7 114472398 114472398 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577831 S 3 1 0 "" HuRef esv1011303 7 114475241 114475396 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569241 S 3 0 1 "" HuRef nsv510109 7 114484684 114490684 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624045 S 4 0 1 "" NA18994 nsv521891 7 114489210 114501518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694663 S 2026 0 1 "" esv2646396 7 114601617 114603073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259090 S 1 0 1 "" NA18507 esv273862 7 114743794 114744127 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580280 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv269633 7 114743795 114744092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495406,essv2495233,essv2513142,essv2503847,essv2493469,essv2500251,essv2493255,essv2509805,essv2493676,essv2494909,essv2498299,essv2497357,essv2512892,essv2498497,essv2513251,essv2509224,essv2497044,essv2495089,essv2499517 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11919,NA11992,NA12249,NA12761,NA12763,NA12891,NA18504,NA18508,NA18517,NA18520,NA18526,NA18545,NA18609,NA18858,NA18907,NA18909,NA19190 esv2558239 7 114926955 114928555 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387050 S 1 0 1 "" NA18507 nsv520126 7 114932214 114934020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676435,nssv661029 M 2026 0 2 "" nsv831102 7 114975549 115138603 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446403,nssv1446402 M 95 2 0 "" nsv889071 7 115200950 115313112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568142 S 6533 0 1 "" IS31205 nsv510110 7 115261199 115267199 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624046 S 4 0 1 "" NA18994 dgv2131e1 7 115305285 115342551 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1246,essv3250 M 271 0 0 "" NA18967 nsv831103 7 115314930 115461449 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446404 S 95 0 1 TFEC nsv442064 7 115370689 115373669 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TFEC esv2421737 7 115370689 115373670 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5065532,essv5043157,essv5105320,essv5038945,essv5004625,essv5041537,essv5110672,essv5014151,essv5047271,essv5046266,essv5156606,essv5146733,essv5066612,essv5011732,essv5080321,essv5135025,essv5103100,essv5128448,essv5073499,essv5024422,essv5032949,essv5009187,essv5042206,essv5104839,essv5056556,essv5071843,essv5135714,essv5148160,essv5027024,essv5041460,essv5029412 M 1184 0 31 TFEC NA11893,NA17965,NA17979,NA18105,NA18124,NA18127,NA18133,NA18155,NA18545,NA18572,NA18582,NA18597,NA18621,NA18636,NA18642,NA18696,NA18951,NA20508,NA20859,NA20882,NA20883,NA20885,NA20887,NA20888,NA20901,NA20903,NA20906,NA20908,NA21109,NA21119,NA21144 nsv514444 7 115370760 115373648 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627901 S 1414 0 1 TFEC dgv1130n67 7 115370836 115374342 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824280,nsv824279,nsv824278 M 31 0 4 TFEC AK16,NA18582,NA18951,NA18973 nsv365487 7 115371331 115372430 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384065 M 24 TFEC nsv5914 7 115514946 115516473 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3571 S 9 1 0 "" NA12878 nsv520579 7 115567817 115570893 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694389 S 2026 1 0 "" esv2503153 7 115629119 115630708 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358153 S 1 0 1 "" NA18507 esv274354 7 115652436 115652625 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580639,essv2579323,essv2579677 M 7 3 0 Samples from several populations that are part of the HapMap project. TES NA19238,NA19239,NA19240 esv267809 7 115652446 115652768 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541074,essv2546573,essv2545392,essv2577290,essv2548401,essv2525300,essv2558313,essv2577661,essv2564045,essv2555032,essv2530716,essv2557070,essv2552533,essv2532066,essv2569315,essv2569830,essv2527272,essv2562865,essv2523627,essv2541442,essv2543020,essv2540443,essv2534536,essv2561050,essv2539666,essv2549586,essv2519871,essv2532575,essv2567684,essv2528980,essv2567370,essv2541667,essv2570281,essv2553159,essv2535821,essv2572377,essv2543719,essv2527817,essv2562248,essv2539315,essv2533761,essv2567170,essv2529974,essv2574031,essv2575010,essv2530309,essv2572863,essv2568527,essv2571458,essv2545711,essv2574422,essv2551626,essv2554526 M 157 53 0 Samples from several populations that are part of the HapMap project. TES NA07346,NA11831,NA11881,NA12003,NA12043,NA12045,NA12156,NA12750,NA12761,NA12828,NA12872,NA12873,NA18501,NA18502,NA18505,NA18508,NA18520,NA18522,NA18532,NA18537,NA18545,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18566,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18870,NA18907,NA18909,NA18912,NA18944,NA18947,NA18949,NA18951,NA19102,NA19141,NA19143,NA19147,NA19238,NA19239,NA19240,NA19257 nsv12 7 115705254 115740269 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv12 S 1 0 1 "" NA15510 nsv5915 7 115705254 115740269 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11161 S 9 0 1 "" NA15510 nsv507412 7 115713609 115719609 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620391 S 4 1 0 "" NA15510 nsv889072 7 115716374 115755926 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557427 S 6533 0 1 "" MS22677 nsv8206 7 115716805 115729141 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv14591,nssv16353,nssv16207,nssv15692 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA11830,NA12872 dgv134n17 7 115717261 115730750 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437028,nsv437029 M 60 0 2 "" NA07029,NA12752 esv26023 7 115718783 115728357 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20931 S 451 0 3 "" NA11931,NA12004,NA15510 nsv499103 7 115718876 115728487 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586044 S 9 0 1 "" nsv831105 7 115720761 115893182 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446405,nssv1446408 M 95 1 1 "" esv2421570 7 115722247 115728902 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5104977,essv5134813,essv5138078,essv5148243,essv5119236,essv5036302,essv5079690,essv5148829,essv5083342,essv5015279,essv5139217,essv5062438,essv5160309,essv5138009,essv5117979,essv5038008,essv5109982,essv5058225,essv5068695,essv5054464,essv5083917,essv5123584,essv5046809,essv5006727,essv5089529,essv5116347,essv5091369,essv5157130,essv5158592,essv5011081,essv5016323,essv5136300,essv5064792,essv5112112,essv5145263,essv5072764,essv5086737,essv5090822,essv5125006,essv5075392,essv5143813,essv5154443,essv5031253,essv5123945,essv5014840,essv5119832,essv5073983,essv5021602,essv5102132,essv5130419,essv5150803,essv5123217,essv5080268,essv5069833,essv5108743,essv5152105,essv5104567,essv5069814,essv5080506,essv5020362,essv5002537,essv5082557,essv5132374,essv5114742,essv5145713,essv5092048,essv5118283,essv5082085,essv5010582,essv5027816,essv5031928,essv5149108,essv5084041,essv5009802,essv5156071,essv5145098,essv5144508,essv5065978,essv5078399 M 1184 0 79 "" NA06986,NA06994,NA07029,NA07346,NA07347,NA07349,NA10845,NA10856,NA10859,NA11839,NA11882,NA11930,NA11931,NA12045,NA12335,NA12336,NA12341,NA12342,NA12375,NA12399,NA12752,NA12760,NA12864,NA12872,NA19313,NA19462,NA19660,NA19669,NA19671,NA19725,NA19749,NA19755,NA19757,NA19778,NA19818,NA19982,NA19983,NA20504,NA20509,NA20517,NA20520,NA20586,NA20588,NA20761,NA20765,NA20766,NA20768,NA20770,NA20783,NA20790,NA20792,NA20805,NA20812,NA20826,NA20856,NA20870,NA20873,NA20904,NA20911,NA21090,NA21094,NA21117,NA21302,NA21303,NA21312,NA21313,NA21314,NA21320,NA21408,NA21418,NA21439,NA21447,NA21513,NA21514,NA21520,NA21614,NA21648,NA21686,NA21723 nsv517460 7 115724188 115724917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680493,nssv672037,nssv670260,nssv670746,nssv679549,nssv680660,nssv682033,nssv668888,nssv671818,nssv693360,nssv655978,nssv652990,nssv652084,nssv674960,nssv655223,nssv685545,nssv664117,nssv681789,nssv683571,nssv669042,nssv668706,nssv691760,nssv658481,nssv675218,nssv688134,nssv664490,nssv665526,nssv693617,nssv658102,nssv665349,nssv666381,nssv672232,nssv694043,nssv664224,nssv667221,nssv672387,nssv656622,nssv688431,nssv654551,nssv688408,nssv687233,nssv681027,nssv692073,nssv655487,nssv659950,nssv670864,nssv687060,nssv684553,nssv672022,nssv660965,nssv652748,nssv657753 M 2026 0 52 "" nsv433484 7 115724188 115727149 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463365 S 9 0 1 "" NA15510 nsv528213 7 115724188 115732627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704774 S 2026 0 1 "" nsv437999 7 115724917 115727149 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469069,nssv469070,nssv469071,nssv469068 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA06994,NA07029,NA12752,NA12760 esv999034 7 115726395 115727695 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587284 S 3 1 0 "" HuRef nsv514445 7 115726592 115727776 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627902 S 1414 0 1 "" nsv524749 7 115737165 115743365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700740 S 2026 0 1 "" nsv831106 7 115766919 115988756 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446409 S 95 1 0 CAV1,CAV2 esv24872 7 115820467 115821550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11528 S 451 0 1 "" NA07045 esv1115366 7 115982830 115982892 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670531 S 2 0 1 CAV1 HuRef nsv366908 7 116153434 116153434 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385486 M 24 MET esv1092803 7 116153461 116153461 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683105 S 2 1 0 MET HuRef esv274927 7 116170154 116182754 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586088,essv2585263 M 1250 1 1 MET nsv831107 7 116201970 116436702 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446410 S 95 1 0 CAPZA2,MET,ST7,ST7-AS1,ST7-OT4 dgv7465n71 7 116340095 116398349 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889073,nsv889074,nsv889075 M 6533 7 0 CAPZA2,ST7,ST7-AS1,ST7-OT4 SP51115,SP52416,SP52475,SP54942,SP55086,SP55433,SP57856 nsv366350 7 116357163 116360771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384928 M 24 "" esv1005081 7 116406174 116413469 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564908 S 3 0 1 ST7 HuRef nsv527321 7 116422284 116448039 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703746 S 2026 0 1 ST7 esv1091175 7 116458756 116458756 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747125 S 2 1 0 ST7 HuRef nsv831108 7 116536770 116739247 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446411 S 95 1 0 ST7,ST7-AS2,ST7-OT3,WNT2 esv271633 7 116549150 116549442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506755,essv2505505,essv2495891,essv2503444,essv2503797,essv2511343,essv2500120,essv2512739,essv2499307,essv2500891,essv2502440,essv2503680,essv2500798,essv2504346 M 157 14 0 Samples from several populations that are part of the HapMap project. ST7,ST7-AS2 NA07347,NA11918,NA12154,NA12489,NA12716,NA12761,NA18570,NA18573,NA18577,NA18605,NA18856,NA18948,NA18960,NA18973 nsv824281 7 116595868 116596501 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432148 S 31 1 0 ST7 AK20 nsv5916 7 116612457 116657806 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6164 S 9 0 1 ST7,ST7-OT3 NA12156 esv2628908 7 116628575 116630068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252565 S 1 0 1 ST7,ST7-OT3 NA18507 esv2232715 7 116629073 116629740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4619909 S 1 0 1 ST7,ST7-OT3 NA18507 esv4717 7 116629207 116629693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27158 S 1 0 1 Single Asian sample YH ST7,ST7-OT3 YH esv2623394 7 116629241 116629551 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163842 S 1 0 1 ST7,ST7-OT3 NA18507 esv8605 7 116629248 116629553 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31046 S 1 0 1 ST7,ST7-OT3 SJK nsv366395 7 116629254 116629564 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384973 M 24 ST7,ST7-OT3 nsv516761 7 116675397 116680082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670665,nssv658080 M 2026 0 2 "" esv1297873 7 116692341 116692454 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729903 S 2 0 1 "" HuRef esv2504582 7 116779273 116780587 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348098 S 1 0 1 "" NA18507 nsv889076 7 116851861 116934783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565715 S 6533 0 1 ASZ1,CFTR IS30508 dgv7466n71 7 116916640 117033551 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889077,nsv889078 M 6533 0 2 CFTR IS31205,IS33533 nsv889079 7 116943577 116986769 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577645 S 6533 0 1 CFTR IS34515 nsv889080 7 116963484 117025615 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532259 S 6533 0 1 CFTR MS10737 dgv7467n71 7 116990653 117033551 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889082,nsv889081 M 6533 0 8 CFTR IS30667,IS35771,IS41043,IS41924,MS11467,MS17114,MS18847,MS22104 nsv889083 7 116990653 117043610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597073 S 6533 0 1 CFTR IS40729 dgv7468n71 7 116999959 117040109 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889084,nsv889085,nsv889086 M 6533 0 16 CFTR IS30597,IS30967,IS31041,IS31335,IS31543,IS31729,IS33507,IS35114,IS39011,IS41113,MS10123,MS10611,MS13292,MS13480,MS17642,SP52694 nsv889087 7 117014002 117033551 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535573,nssv1582356,nssv1565716,nssv1581844,nssv1582965,nssv1579634,nssv1567394 M 6533 0 7 CFTR IS30508,IS31074,IS35145,IS35742,IS35911,IS36219,MS12266 nsv5917 7 117059894 117092211 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10577 S 9 1 0 CFTR NA18956 nsv464695 7 117130007 117180752 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540568 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CTTNBP2 HGDP01267 esv2533512 7 117143004 117144098 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332882 S 1 1 0 CTTNBP2 NA18507 esv274057 7 117143388 117143758 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580391,essv2580004,essv2580847 M 7 3 0 Samples from several populations that are part of the HapMap project. CTTNBP2 NA12891,NA12892,NA19238 esv272004 7 117143462 117143795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558159,essv2565748,essv2576000,essv2540930,essv2571688,essv2526094,essv2542506,essv2523010,essv2523365,essv2531978,essv2577535,essv2576626,essv2550696,essv2552267,essv2564758,essv2553538,essv2565348,essv2576493,essv2520097,essv2528627,essv2546895,essv2557019,essv2532257,essv2537048,essv2538874,essv2542163,essv2550972,essv2543505,essv2574989,essv2538527,essv2524193,essv2549820,essv2571356,essv2551267,essv2536075,essv2537846,essv2548979,essv2533432 M 157 38 0 Samples from several populations that are part of the HapMap project. CTTNBP2 NA06986,NA07000,NA07037,NA07051,NA10851,NA11829,NA11830,NA11831,NA11840,NA11918,NA11919,NA11931,NA12004,NA12006,NA12043,NA12154,NA12155,NA12489,NA12751,NA12763,NA12812,NA12814,NA12815,NA12891,NA12892,NA18501,NA18505,NA18517,NA18519,NA18856,NA18858,NA18870,NA19102,NA19108,NA19129,NA19225,NA19238,NA19257 esv270367 7 117167540 117167866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542462,essv2544023,essv2568075,essv2525459,essv2555029,essv2539972,essv2520730,essv2532372,essv2578741,essv2527313,essv2528045,essv2562372,essv2534177,essv2529477,essv2538540,essv2526446,essv2560729,essv2574917,essv2530306,essv2572783,essv2537853 M 157 21 0 Samples from several populations that are part of the HapMap project. CTTNBP2 NA07000,NA11919,NA11992,NA11995,NA12156,NA12872,NA18489,NA18498,NA18505,NA18510,NA18522,NA18907,NA18909,NA18916,NA19093,NA19108,NA19114,NA19116,NA19138,NA19141,NA19143 esv1000466 7 117239147 117239208 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571589 S 3 0 1 CTTNBP2 HuRef nsv366401 7 117239187 117239253 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384979 M 24 CTTNBP2 nsv5918 7 117247834 117282621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3573 S 9 1 0 CTTNBP2 NA12878 esv1717444 7 117292035 117292035 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233205 S 2 1 0 CTTNBP2 HuRef nsv5919 7 117305016 117336068 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10578 S 9 1 0 "" NA18956 esv2395298 7 117452271 117452725 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546534 S 1 0 1 "" NA18507 esv2519651 7 117474848 117476019 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232428 S 1 0 1 "" NA18507 esv2752146 7 117526285 117579285 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982434,essv6989623 M 771 0 1 "" BEC_442 nsv889088 7 117531896 117700884 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588005 S 6533 1 0 ANKRD7,NAA38 IS38144 esv33380 7 117555707 117580713 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94606 S 51 0 1 "" 21932 nsv510111 7 117597717 117603717 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624047 S 4 0 1 "" NA18994 nsv5920 7 117620483 117653972 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv680 S 9 1 0 ANKRD7,NAA38 NA19240 nsv889089 7 117653176 117708503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570342 S 6533 0 1 ANKRD7 IS31904 nsv889090 7 117653176 117854696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588349 S 6533 0 1 ANKRD7 IS38183 esv2432841 7 117680617 117682300 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326431 S 1 0 1 "" NA18507 esv1993322 7 117680996 117681702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931696 S 1 0 1 "" NA18507 esv4194 7 117681127 117681533 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26635 S 1 0 1 Single Asian sample YH "" YH esv1542537 7 117681186 117681488 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127296 S 2 0 1 "" HuRef esv1005404 7 117681190 117681491 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576488 S 3 0 1 "" HuRef esv2557418 7 117681194 117681495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174177 S 1 0 1 "" NA18507 nsv889091 7 117686426 117751162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563416 S 6533 0 1 "" MS26001 nsv518701 7 117708503 117716000 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696151 S 2026 1 0 "" nsv510112 7 117756834 117762834 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621321 S 4 0 1 "" NA15510 nsv889092 7 117764327 117854696 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569204,nssv1569272,nssv1588733 M 6533 0 3 "" IS31546,IS31554,IS38239 nsv889093 7 117764327 118496990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546163 S 6533 0 1 "" MS17114 nsv889094 7 117769056 117973779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570435 S 6533 0 1 "" IS32006 nsv889095 7 117804083 117884915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559242 S 6533 1 0 "" MS23791 nsv438000 7 117849640 117860081 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469072,nssv469073 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12801,NA12813 esv2480053 7 117870105 117871101 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191375 S 1 1 0 "" NA18507 esv267453 7 117870519 117870846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557807,essv2575962,essv2540734,essv2571788,essv2546553,essv2521313,essv2526267,essv2542232,essv2522703,essv2544149,essv2570867,essv2556517,essv2568159,essv2545363,essv2531956,essv2577199,essv2570575,essv2576627,essv2550758,essv2535237,essv2551977,essv2547326,essv2529278,essv2558385,essv2564591,essv2577954,essv2553887,essv2559594,essv2576250,essv2555019,essv2530883,essv2561810,essv2537619,essv2528250,essv2530457,essv2540200,essv2557578,essv2557085,essv2552425,essv2532403,essv2562734,essv2569384,essv2578696,essv2558862,essv2536989,essv2539157,essv2527391,essv2561322,essv2544696,essv2552941,essv2541381,essv2538435,essv2542656,essv2524402,essv2564945,essv2534513,essv2539722,essv2549330,essv2519667,essv2560137,essv2521984,essv2566104,essv2531090,essv2567849,essv2541575,essv2569996,essv2563580,essv2553413,essv2559078,essv2568861,essv2527813,essv2578194,essv2573134,essv2555547,essv2566586,essv2529874,essv2527493,essv2557603,essv2534456,essv2573284,essv2577152,essv2529537,essv2575462,essv2575268,essv2538748,essv2526584,essv2560597,essv2524145,essv2574730,essv2530208,essv2560170,essv2549737,essv2571351,essv2545751,essv2574383,essv2551319,essv2536008,essv2548700,essv2533174,essv2554506,essv2547955,essv2525161 M 157 102 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12154,NA12155,NA12249,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA18486,NA18489,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18542,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18592,NA18593,NA18603,NA18605,NA18638,NA18861,NA18907,NA18940,NA18942,NA18945,NA18948,NA18949,NA18952,NA18953,NA18959,NA18969,NA18970,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272765 7 117870519 117870846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584796,essv2583843 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv5922 7 117911801 117966065 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9446 S 9 0 1 "" NA18517 dgv66n64 7 117917231 117948417 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818548,nsv818549 M 112 0 2 "" NA18517,NA19171 esv24851 7 117920071 117950504 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19776 S 451 0 2 "" NA18517,NA19099 nsv514446 7 117920392 117947512 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627904 S 1414 0 1 "" nsv517111 7 117922458 117948417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665158,nssv664129,nssv688213,nssv676493,nssv688055,nssv680756,nssv654580,nssv660347,nssv662780,nssv687338,nssv675740,nssv687946,nssv680363,nssv676123,nssv661504,nssv664241,nssv652587,nssv655739,nssv677034,nssv667010,nssv686320,nssv672748,nssv691128,nssv685568,nssv672513,nssv685108,nssv661796,nssv677583,nssv690465,nssv668159,nssv663992,nssv674424,nssv661749,nssv669164,nssv671312,nssv679655,nssv665636,nssv653802,nssv692564,nssv671597,nssv658904,nssv668824,nssv689526,nssv661030,nssv673911,nssv656664,nssv675185,nssv662092,nssv687274,nssv652150,nssv682005,nssv677109 M 2026 0 52 "" esv2421467 7 117922458 117948608 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5147114,essv5148404,essv5148694,essv5044018,essv5063731,essv5128511,essv5111686,essv5044413,essv5077460,essv5013872,essv5150601,essv5125583,essv5129207,essv5042702,essv5091688,essv5129371,essv5091175,essv5064154,essv5135375 M 1184 0 19 "" NA18517,NA19099,NA19113,NA19115,NA19150,NA19151,NA19171,NA19204,NA19214,NA19248,NA19249,NA19446,NA19704,NA19705,NA19708,NA19908,NA19919,NA20359,NA20360 nsv442065 7 117922977 117948608 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv5923 7 118033208 118046252 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3574 S 9 1 0 "" NA12878 esv2263363 7 118050515 118050922 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4592797 S 1 0 1 "" NA18507 nsv831109 7 118087829 118289014 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446412,nssv1446413 M 95 2 0 "" esv1241651 7 118095712 118095712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278912 S 2 1 0 "" HuRef esv2612496 7 118130564 118132181 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343333 S 1 0 1 "" NA18507 esv2415892 7 118130851 118131601 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847953 S 1 0 1 "" NA18507 esv5353 7 118130964 118131588 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27794 S 1 0 1 Single Asian sample YH "" YH esv2592868 7 118131045 118131399 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317205 S 1 0 1 "" NA18507 esv9051 7 118131049 118131392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31492 S 1 0 1 "" SJK esv1737496 7 118131051 118131406 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002010 S 2 0 1 "" HuRef nsv436538 7 118169275 118178489 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466409 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv25378 7 118170139 118178586 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20211 S 451 0 1 "" NA18505 nsv889096 7 118225420 118496990 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536244,nssv1531185 M 6533 0 2 "" MS10362,MS12657 nsv5924 7 118239080 118273855 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3575 S 9 1 0 "" NA12878 nsv889097 7 118245657 118421821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566168 S 6533 0 1 "" IS30597 nsv831110 7 118330576 118526598 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446414 S 95 0 1 "" nsv889098 7 118377286 118683875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575622 S 6533 0 1 "" IS33786 esv25333 7 118378228 118386275 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20391 S 451 0 1 "" NA18523 nsv442066 7 118479931 118481573 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv889099 7 118496990 118655662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556958 S 6533 1 0 "" MS22297 nsv528448 7 118520651 118531686 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705047 S 2026 0 1 "" dgv7469n71 7 118531686 119034807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889100,nsv889101 M 6533 0 2 "" IS35572,MS18620 nsv519320 7 118556602 118562315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696790 S 2026 0 1 "" nsv517340 7 118562337 118566038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664050,nssv661948,nssv653871,nssv653842,nssv670666,nssv675099,nssv653048 M 2026 0 7 "" nsv5925 7 118591938 118628821 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6165 S 9 0 1 "" NA12156 esv2641520 7 118617835 118622714 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191627 S 1 0 1 "" NA18507 dgv1131n67 7 118618268 118621975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824282,nsv824284,nsv824283,nsv824285 M 31 0 17 "" AK10,AK12,AK14,AK18,AK20,AK6,AK8,NA18537,NA18547,NA18552,NA18570,NA18592,NA18942,NA18947,NA18972,NA18997,NA18999 esv2272185 7 118618307 118622173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877454 S 1 0 1 "" NA18507 nsv511988 7 118618413 118622196 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624532 S 1 0 1 "" 1 dgv171e180 7 118618449 118621895 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994476,esv991450 M 3 0 1 "" HuRef esv23839 7 118618449 118621941 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12760 S 451 0 27 "" NA07037,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18907,NA19099,NA19129,NA19147,NA19190,NA19225,NA19257 esv4465 7 118618450 118622074 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26906 S 1 0 1 Single Asian sample YH "" YH nsv499643 7 118618484 118621991 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586045 S 9 0 1 "" nsv365787 7 118618496 118621990 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384365 M 24 "" nsv436544 7 118618521 118622036 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466410 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv514447 7 118618544 118622008 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627905 S 1414 0 1 "" esv2561962 7 118618759 118623111 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322862 S 1 0 1 "" NA18507 nsv521831 7 118655662 118804768 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694604 S 2026 0 1 "" esv2157048 7 118671180 118671597 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541458 S 1 0 1 "" NA18507 nsv831111 7 118671777 118853382 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446415 S 95 1 0 "" nsv464697 7 118683875 118756847 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540569 S 1557 0 1 "" 1780862470_A dgv7470n71 7 118691965 118984701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889107,nsv889105,nsv889102,nsv889104,nsv889106 M 6533 0 8 "" IS31729,IS35145,IS39861,IS41832,MS15199,MS15749,MS17114,SP52694 nsv470387 7 118710649 118760388 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546176 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01323 nsv518699 7 118710649 118762729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694264 S 2026 0 1 "" nsv889103 7 118710649 118793652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583251,nssv1570086 M 6533 2 0 "" IS31799,IS36364 dgv830n27 7 118713626 118760388 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464703,nsv464698 M 1557 0 2 "" HGDP00039,HGDP01286 nsv508477 7 118720623 118724134 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618820 S 4 0 1 "" NA10860 nsv526208 7 118732917 118762729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702471 S 2026 0 1 "" nsv464704 7 118746216 118920431 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540572 S 1557 0 1 "" NINDS_189 esv1003637 7 118757648 118761062 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564968 S 3 0 1 "" HuRef nsv515757 7 118760388 118762729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668649,nssv693710,nssv676599,nssv674133,nssv664697 M 2026 0 5 "" esv2450559 7 118830199 118831831 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322067 S 1 0 1 "" NA18507 dgv7471n71 7 118831815 118973304 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889110,nsv889108 M 6533 0 2 "" IS33864,IS39464 nsv889109 7 118855366 118964906 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565874,nssv1600634,nssv1570575,nssv1569089,nssv1575870,nssv1566342,nssv1570619,nssv1562823,nssv1550892,nssv1582500,nssv1568863,nssv1569205,nssv1566531,nssv1579412,nssv1523449,nssv1542184,nssv1579521,nssv1570087,nssv1583789,nssv1555461,nssv1567857,nssv1582357,nssv1591994,nssv1598921,nssv1551336,nssv1568374,nssv1566013,nssv1578272,nssv1556614,nssv1579466,nssv1574225,nssv1599494,nssv1570436,nssv1596663,nssv1572481,nssv1554625,nssv1541435,nssv1563502,nssv1580226,nssv1569837,nssv1577768,nssv1537081,nssv1581897,nssv1565955,nssv1594602,nssv1587515,nssv1575964,nssv1545666,nssv1587254,nssv1558479,nssv1589938,nssv1565902,nssv1569724,nssv1598184,nssv1568593,nssv1566866,nssv1581845,nssv1569164,nssv1532044,nssv1583213,nssv1568313,nssv1565479,nssv1580180,nssv1541535,nssv1532154,nssv1595929,nssv1594284,nssv1567320,nssv1555991,nssv1558992,nssv1580105,nssv1534569,nssv1584506,nssv1600927,nssv1594490,nssv1566110,nssv1592746,nssv1569546,nssv1589248,nssv1569042,nssv1537299,nssv1540797,nssv1536530,nssv1575927,nssv1578675,nssv1580303,nssv1568754,nssv1571040,nssv1584241,nssv1569755,nssv1581996,nssv1569582,nssv1565853,nssv1598410,nssv1569616,nssv1582966,nssv1551785,nssv1574494,nssv1588659,nssv1567419,nssv1593232,nssv1599041,nssv1583574,nssv1588819,nssv1598360,nssv1584571,nssv1584399,nssv1571172,nssv1584521,nssv1567091,nssv1535574,nssv1567829,nssv1580676,nssv1567395,nssv1567443,nssv1566169,nssv1532673,nssv1570318,nssv1593560,nssv1569643,nssv1571244,nssv1591725,nssv1598289,nssv1566251,nssv1531214,nssv1545203,nssv1547904,nssv1567365,nssv1569273,nssv1558754,nssv1588734,nssv1574439,nssv1580025,nssv1574728 M 6533 21 113 "" IS30432,IS30531,IS30532,IS30537,IS30539,IS30553,IS30593,IS30597,IS30620,IS30667,IS30771,IS30967,IS31044,IS31067,IS31070,IS31074,IS31081,IS31082,IS31155,IS31166,IS31233,IS31259,IS31307,IS31335,IS31369,IS31401,IS31419,IS31481,IS31546,IS31554,IS31617,IS31634,IS31651,IS31652,IS31679,IS31703,IS31728,IS31799,IS31879,IS32006,IS32167,IS32289,IS32518,IS32615,IS32653,IS33073,IS33531,IS33566,IS33580,IS33616,IS33832,IS33839,IS33846,IS34555,IS34748,IS34856,IS35100,IS35107,IS35127,IS35225,IS35229,IS35236,IS35244,IS35263,IS35422,IS35742,IS35743,IS35771,IS35911,IS35973,IS36219,IS36320,IS36533,IS36656,IS36911,IS36981,IS37059,IS37060,IS37065,IS37999,IS38060,IS38231,IS38239,IS38254,IS38330,IS38431,IS39011,IS39119,IS39248,IS39373,IS39450,IS39759,IS39900,IS39944,IS40368,IS40603,IS41043,IS41094,IS41179,IS41189,IS41284,IS41292,IS41647,IS41906,IS41948,MS10378,MS10699,MS10727,MS10802,MS11669,MS12266,MS12827,MS13095,MS13154,MS15036,MS15312,MS15347,MS15704,MS16708,MS16898,MS17611,MS18648,MS18847,MS18978,MS20872,MS21356,MS21737,MS22104,MS23290,MS23531,MS23670,MS25751,MS26061,SP54030 nsv508478 7 118899283 118914943 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622584 S 4 0 1 "" NA18994 dgv7472n71 7 118901124 118993332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889113,nsv889112,nsv889111 M 6533 0 3 "" IS31581,IS35083,MS20237 nsv437570 7 118927886 118948979 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467451 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv437569 7 118927886 118959052 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467450 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 esv28395 7 118932023 118933014 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16979 S 451 0 1 "" NA12414 nsv8207 7 118940154 118951676 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16799,nssv15950 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18853,NA19173 nsv438001 7 118942357 118943363 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469079,nssv469078,nssv469076,nssv469077 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18521,NA18522,NA19172,NA19173 esv2421545 7 118943014 118949683 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5047119,essv5091252,essv5117446,essv5021566,essv5085391,essv5102805,essv5122614,essv5005334,essv5090709,essv5037490,essv5048519,essv5107086,essv5120518,essv5099676,essv5047039,essv5060074,essv5107079,essv5013762,essv5127325,essv5055365,essv5095221,essv5146206,essv5063715,essv5030794,essv5051552,essv5122635,essv5004462,essv5143335,essv5008262,essv5066709,essv5144710,essv5012386,essv5083583,essv5042894,essv5019140,essv5156635,essv5143523,essv5014427,essv5092394,essv5008769,essv5107866,essv5042713,essv5106465,essv5038496,essv5142537,essv5072991,essv5068155,essv5134572,essv5078256,essv5025935,essv5109987,essv5155285,essv5046691,essv5103601,essv5141834,essv5052162,essv5024199,essv5055827,essv5134767,essv5037519,essv5134870,essv5113714,essv5134639,essv5034578,essv5042127,essv5027972,essv5003396,essv5036273,essv5034933,essv5060456,essv5133396,essv5022837,essv5015105,essv5017316,essv5031517,essv5060120,essv5129573,essv5008300,essv5146215,essv5114207,essv5032306,essv5080644,essv5038132,essv5043129,essv5087235,essv5133905,essv5020627,essv5096888,essv5025253,essv5084830,essv5061836,essv5091013,essv5153423,essv5132265,essv5032930,essv5033560,essv5067510,essv5152598,essv5124194,essv5105353,essv5126109,essv5049092,essv5033789 M 1184 0 103 "" NA18484,NA18485,NA18486,NA18489,NA18510,NA18518,NA18519,NA18853,NA18854,NA18859,NA18913,NA19031,NA19093,NA19096,NA19098,NA19122,NA19123,NA19172,NA19173,NA19179,NA19180,NA19191,NA19193,NA19201,NA19206,NA19208,NA19223,NA19226,NA19247,NA19248,NA19308,NA19317,NA19321,NA19373,NA19375,NA19376,NA19377,NA19379,NA19380,NA19385,NA19390,NA19393,NA19394,NA19397,NA19443,NA19446,NA19452,NA19463,NA19466,NA19469,NA19470,NA19704,NA19705,NA19711,NA19714,NA19789,NA19790,NA19908,NA19909,NA19916,NA19918,NA19919,NA19921,NA19982,NA19985,NA20289,NA20360,NA21307,NA21309,NA21313,NA21316,NA21318,NA21352,NA21362,NA21381,NA21383,NA21391,NA21405,NA21414,NA21415,NA21420,NA21438,NA21439,NA21453,NA21454,NA21475,NA21477,NA21479,NA21480,NA21488,NA21524,NA21526,NA21529,NA21573,NA21577,NA21599,NA21615,NA21632,NA21635,NA21678,NA21682,NA21685,NA21719 nsv442129 7 118944214 118949683 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514448 7 118945528 118949696 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627906 S 1414 0 1 "" nsv889114 7 118993332 119227395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591112 S 6533 0 1 "" IS38637 esv26546 7 119020058 119023400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11548 S 451 0 3 "" NA18508,NA18909,NA19114 esv268767 7 119047023 119047356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518193,essv2514390 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12874 nsv889115 7 119057622 119364528 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585353 S 6533 0 1 "" IS37428 nsv524225 7 119080653 119393868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700113 S 2026 0 1 "" nsv5926 7 119137276 119176877 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9447 S 9 0 1 "" NA18517 esv24378 7 119161809 119173860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14381 S 451 0 1 "" NA18517 nsv514449 7 119162144 119171520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627907 S 1414 0 1 "" dgv1132n67 7 119182987 119185484 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824286,nsv824288,nsv824289 M 31 0 3 "" AK4,NA18951,NA18973 esv272029 7 119233766 119233910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510208,essv2510089,essv2511063,essv2504466,essv2500230,essv2499460,essv2512200,essv2493428,essv2510586,essv2494205,essv2500043,essv2509963,essv2494005,essv2509319,essv2495572,essv2500728,essv2501501,essv2497491,essv2503626,essv2511483,essv2513126 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07346,NA10847,NA10851,NA11829,NA11831,NA11993,NA12006,NA12044,NA12155,NA12763,NA18501,NA18502,NA18558,NA18593,NA18871,NA18909,NA18916,NA18973,NA19093,NA19147 nsv470388 7 119251546 119577338 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546187 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00679 esv271468 7 119345254 119345502 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565773,essv2540974,essv2571657,essv2570974,essv2531747,essv2550662,essv2553518,essv2564021,essv2562077,essv2556914,essv2552470,essv2532282,essv2562760,essv2537075,essv2538964,essv2569754,essv2565071,essv2570338,essv2556212,essv2528102,essv2525602,essv2529622,essv2524281,essv2530375,essv2568788,essv2551381,essv2563181,essv2557780 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA10851,NA11829,NA11831,NA11840,NA11993,NA12006,NA12155,NA12763,NA12828,NA12874,NA18501,NA18502,NA18505,NA18507,NA18517,NA18519,NA18520,NA18558,NA18593,NA18871,NA18907,NA18980,NA19093,NA19129,NA19141,NA19147,NA19257 nsv515721 7 119364528 119399777 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664557,nssv688874 M 2026 0 2 "" nsv831112 7 119372405 119563855 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446421,nssv1446420,nssv1446416,nssv1446422,nssv1446417,nssv1446419 M 95 0 6 "" esv271322 7 119391730 119391849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510658,essv2509674,essv2509081,essv2504770,essv2511944,essv2501809 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18522,NA19099,NA19238,NA19239 esv274194 7 119391736 119391951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580866,essv2579304 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239 esv22742 7 119444300 119446280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12430 S 451 0 1 "" NA19129 nsv831113 7 119470751 119673513 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446423 S 95 1 0 "" nsv521233 7 119473254 119484469 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697860 S 2026 0 1 "" nsv366381 7 119527296 119528663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384959 M 24 "" nsv5927 7 119660308 119692710 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10579 S 9 1 0 "" NA18956 esv272066 7 119707954 119708208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504161,essv2509831,essv2506198,essv2493938,essv2507018,essv2496887,essv2501787,essv2497999 M 157 8 0 Samples from several populations that are part of the HapMap project. KCND2 NA18505,NA18508,NA18523,NA18871,NA19102,NA19190,NA19239,NA19240 esv274478 7 119707962 119708208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579159,essv2579416 M 7 2 0 Samples from several populations that are part of the HapMap project. KCND2 NA19239,NA19240 nsv5928 7 119773284 119805179 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv681 S 9 1 0 KCND2 NA19240 nsv516686 7 119803079 120010320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670150,nssv695846,nssv686091 M 2026 0 3 KCND2 esv271739 7 119822321 119822406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515821 S 157 1 0 Samples from several populations that are part of the HapMap project. KCND2 NA18969 nsv889116 7 119885540 119967907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596329 S 6533 0 1 KCND2 IS40492 esv268561 7 119890658 119891014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510188,essv2511798,essv2501098,essv2498293,essv2500441,essv2503297,essv2497363,essv2494541,essv2497255,essv2508260,essv2499920,essv2504496,essv2507898,essv2511347,essv2500670,essv2494397,essv2500158,essv2508181,essv2508622,essv2509999,essv2496129,essv2499329,essv2512852,essv2507509,essv2498573,essv2503074,essv2511109,essv2497843,essv2502453,essv2512287,essv2497418,essv2503717,essv2495184,essv2502625,essv2500703,essv2505647 M 157 36 0 Samples from several populations that are part of the HapMap project. KCND2 NA10851,NA18499,NA18516,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18573,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18858,NA18943,NA18944,NA18945,NA18948,NA18949,NA18959,NA18960,NA18964,NA18965,NA18973,NA19005 nsv889117 7 119909276 120053694 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582116 S 6533 0 1 KCND2 IS35789 nsv517677 7 120092385 120099982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687275,nssv667098,nssv679550,nssv692074,nssv677461,nssv668190,nssv692436,nssv671434,nssv678337,nssv684788,nssv652808,nssv661191 M 2026 0 12 KCND2 nsv818550 7 120092385 120099982 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416817,nssv1416806 M 112 0 2 KCND2 NA10857,NA12043 nsv524688 7 120092385 120114585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700660 S 2026 0 1 KCND2 nsv5929 7 120254827 120300708 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6166 S 9 0 1 TSPAN12 NA12156 esv274964 7 120309707 120336676 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585172 S 1250 0 1 "" esv996482 7 120324351 120331391 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565002 S 3 0 1 "" HuRef esv271417 7 120325292 120325535 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540941,essv2556953,essv2544965,essv2523532,essv2552903,essv2541389,essv2534940,essv2539569,essv2522040,essv2532749,essv2528876,essv2570055,essv2553354,essv2543772,essv2562238,essv2533707,essv2555730,essv2556107,essv2534238,essv2573630,essv2543261,essv2573331,essv2577113,essv2551272 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA18501,NA18526,NA18537,NA18542,NA18545,NA18561,NA18563,NA18571,NA18576,NA18579,NA18593,NA18605,NA18870,NA18909,NA18944,NA18945,NA18956,NA18959,NA18964,NA18965,NA18969,NA18970,NA19257 nsv437030 7 120337903 120349549 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466911 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12752 nsv438002 7 120343856 120346774 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469081,nssv469080 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12752,NA12760 nsv831114 7 120382860 120591746 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446424 S 95 0 1 C7orf58,ING3 esv24150 7 120435052 120436115 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12328 S 451 0 1 C7orf58 NA19190 dgv7473n71 7 120470987 120588073 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889120,nsv889119,nsv889118 M 6533 3 0 C7orf58 MS13351,MS14281,MS25839 nsv5930 7 120475094 120507095 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3576 S 9 1 0 C7orf58 NA12878 nsv523626 7 120525505 120550448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699424 S 2026 0 1 C7orf58 nsv528485 7 120533445 120550448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705088 S 2026 0 1 C7orf58 nsv889121 7 120534464 120656700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555501 S 6533 0 1 C7orf58 MS21397 nsv889122 7 120648148 120693980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503696 S 6533 0 1 C7orf58 SP52094 esv2523024 7 120667758 120669161 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338953 S 1 0 1 C7orf58 NA18507 esv1968318 7 120668130 120668870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828690 S 1 0 1 C7orf58 NA18507 esv1560116 7 120668352 120668690 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722483 S 2 0 1 C7orf58 HuRef dgv2132e1 7 120695695 120780562 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv998,essv3441 M 271 0 0 C7orf58,FAM3C,WNT16 NA18956 esv269393 7 120758760 120758845 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517039 S 157 1 0 Samples from several populations that are part of the HapMap project. WNT16 NA11931 dgv2133e1 7 120847107 120877191 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv889,essv6540 M 271 0 0 "" NA18624 esv1688635 7 120849578 120849738 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068202 S 2 0 1 "" HuRef nsv821417 7 120870562 120871485 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420697 S 1 0 1 "" NA10851 esv26862 7 120870562 120872515 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17703,esv13777 M 451 6 0 "" NA07037,NA07045,NA18511,NA18523,NA18916,NA19240 esv1336113 7 120870749 120870981 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3671906 S 2 0 1 "" HuRef nsv366684 7 120871209 120871209 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385262 M 24 "" esv1693738 7 120871231 120871231 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001258 S 2 1 0 "" HuRef esv1270661 7 120871299 120871299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294536 S 2 1 0 "" HuRef esv270221 7 120909767 120910098 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557191,essv2536971,essv2550907,essv2543525,essv2562346,essv2575680,essv2526436,essv2523949,essv2530229,essv2549637 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18517,NA18858,NA18870,NA18909,NA19099,NA19114,NA19129,NA19141,NA19225 dgv1133n67 7 120948928 120966803 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824291,nsv824290 M 31 0 4 "" AK18,NA18947,NA18968,NA18972 nsv442067 7 120949223 120973529 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv518821 7 120953045 120964632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694277 S 2026 0 1 "" esv28899 7 121004863 121006853 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15554 S 451 0 1 "" NA18517 esv28181 7 121007816 121012506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13723 S 451 0 1 "" NA19225 esv1427841 7 121077003 121077093 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181759 S 2 0 1 "" HuRef esv268058 7 121090460 121090781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496609,essv2498443,essv2507131,essv2504782,essv2499697 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18858,NA18870,NA19099,NA19225 esv27328 7 121128141 121130353 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20416 S 451 0 1 "" NA19257 nsv512921 7 121167601 121168271 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625569 S 1 1 0 "" 1 esv1685510 7 121168044 121168044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361615 S 2 1 0 "" HuRef esv1500267 7 121168045 121168045 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219691 S 2 1 0 "" HuRef nsv824292 7 121272709 121281611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425072 S 31 0 1 "" AK2 esv2516212 7 121333874 121335407 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275707 S 1 0 1 PTPRZ1 NA18507 nsv365800 7 121444869 121446011 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384378 M 24 PTPRZ1 nsv523632 7 121541931 121589304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699432 S 2026 0 1 AASS esv2214125 7 121597577 121598116 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825159 S 1 0 1 "" NA18507 nsv5931 7 121731373 121775830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1683 S 9 0 1 CADPS2,FEZF1,LOC154860 NA18555 esv269458 7 121897047 121897406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504418,essv2510364,essv2494735,essv2500378,essv2508237,essv2507917,essv2505850,essv2513382,essv2495663,essv2509596,essv2501777,essv2498218,essv2502072 M 157 13 0 Samples from several populations that are part of the HapMap project. CADPS2 NA11993,NA12414,NA18519,NA18537,NA18561,NA18564,NA18861,NA18907,NA18916,NA19129,NA19239,NA19240,NA19257 esv274307 7 121897048 121897237 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578928,essv2579626 M 7 2 0 Samples from several populations that are part of the HapMap project. CADPS2 NA19239,NA19240 esv271903 7 122144405 122144490 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514681 S 157 1 0 Samples from several populations that are part of the HapMap project. CADPS2 NA11840 esv272058 7 122160757 122160842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518479,essv2518418 M 157 2 0 Samples from several populations that are part of the HapMap project. CADPS2 NA12287,NA19240 esv272553 7 122160757 122160842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581582 S 7 1 0 Samples from several populations that are part of the HapMap project. CADPS2 NA12878 nsv824293 7 122181593 122182162 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436744 S 31 0 1 CADPS2 NA18542 nsv524192 7 122190657 123005758 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700075 S 2026 1 0 CADPS2,IQUB,NDUFA5,SLC13A1,TAS2R16 esv2069189 7 122243972 122250031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944644 S 1 0 1 CADPS2 NA18507 esv1407742 7 122247836 122248162 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075068 S 2 0 1 CADPS2 HuRef nsv5933 7 122454996 122489475 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv682 S 9 1 0 "" NA19240 nsv520314 7 122578980 122674792 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662781,nssv692566 M 2026 2 0 SLC13A1 esv34917 7 122585872 122665285 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980628,essv6980627,essv6980626 M 771 1 0 SLC13A1 NA19238 dgv2134e1 7 122585872 122676571 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1022,essv12058 M 271 0 0 SLC13A1 NA19238 nsv818551 7 122595764 122674792 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416846 S 112 1 0 SLC13A1 NA19238 nsv889123 7 122607115 122659606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542635 S 6533 0 1 SLC13A1 MS15813 esv1223159 7 122639955 122640446 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967703 S 2 0 1 "" HuRef nsv889124 7 122642453 122681385 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552604 S 6533 0 1 "" MS19529 esv27904 7 122643300 122649040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12777 S 451 0 1 "" NA19225 esv2580095 7 122650414 122651475 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178421 S 1 1 0 "" NA18507 esv269985 7 122650821 122651288 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496340,essv2505845,essv2510938 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18861,NA19116 esv23955 7 122658153 122660399 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18044,esv19949 M 451 0 2 "" NA18508,NA18861 esv2521969 7 122716597 122718083 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167548 S 1 0 1 "" NA18507 nsv889125 7 122770945 123037405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590777 S 6533 1 0 ASB15,IQUB,NDUFA5 IS38583 nsv824294 7 122793471 122793973 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427579 S 31 1 0 "" AK8 esv2213297 7 122835418 122835771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829498 S 1 0 1 "" NA18507 nsv889126 7 122842791 122949413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540551 S 6533 1 0 IQUB MS14913 nsv831116 7 122874848 123047212 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446426,nssv1446425 M 95 1 1 ASB15,IQUB,NDUFA5 esv2646544 7 122921218 122922601 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315482 S 1 0 1 IQUB NA18507 nsv508479 7 122979101 123039381 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622585 S 4 0 1 ASB15,NDUFA5 NA18994 esv270745 7 122981756 122982094 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518630,essv2515095 M 157 2 0 Samples from several populations that are part of the HapMap project. NDUFA5 NA12287,NA12812 nsv824295 7 123008816 123009258 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427606 S 31 1 0 "" NA18947 esv269881 7 123070187 123070310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500921,essv2498853 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA19138 nsv824296 7 123082923 123083711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432150 S 31 0 1 LMOD2 AK20 nsv528096 7 123574909 123577832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704634 S 2026 0 1 "" dgv7474n71 7 123656803 123825001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889130,nsv889132,nsv889127,nsv889131,nsv889129 M 6533 0 9 "" IS30976,IS33747,IS34896,IS35572,IS36990,IS38207,IS39450,IS40890,MS25963 nsv889128 7 123663032 123717785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568290 S 6533 0 1 "" IS31228 nsv470389 7 123681044 123723722 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546198 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01263 nsv428185 7 123744612 123826944 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451270,nssv451260,nssv451274,nssv451275,nssv451256,nssv451257,nssv451251,nssv451258,nssv451262,nssv451259,nssv451266,nssv451264,nssv451269,nssv451261,nssv451263,nssv451252,nssv451272,nssv451273,nssv451268,nssv451277,nssv451255,nssv451271,nssv451253,nssv451267 M 62 24 0 "" HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00473,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19225,NA19257 nsv831117 7 123744612 123876422 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446436,nssv1446442,nssv1446435,nssv1446441,nssv1446437,nssv1446443,nssv1446438,nssv1446439,nssv1446427,nssv1446430,nssv1446428,nssv1446434,nssv1446432,nssv1446431,nssv1446433 M 95 0 15 "" nsv889133 7 123805671 123881679 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596330 S 6533 0 1 "" IS40492 esv2494004 7 123852953 123853502 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269625 S 1 1 0 "" NA18507 esv1115249 7 123853313 123853313 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163177 S 2 1 0 "" HuRef esv26505 7 123900458 123905192 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10271,esv12576 M 451 1 1 "" NA18508,NA19108 nsv471452 7 123903661 123904245 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548316,nssv548317,nssv548318 M 3 "" esv1010558 7 123909144 123914671 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565062 S 3 0 1 "" HuRef nsv525687 7 123925423 123983680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701845 S 2026 0 1 "" esv275425 7 123950487 123951872 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585644,essv2585780 M 1250 1 1 "" nsv831118 7 123959503 124134763 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446444 S 95 1 0 "" esv270825 7 123988490 123988840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509775,essv2496470,essv2508925,essv2505987,essv2501412,essv2499054 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18510,NA18522,NA18523,NA19093,NA19114 esv2500380 7 124055726 124057345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357320 S 1 0 1 "" NA18507 esv275213 7 124088205 124098978 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585509,essv2585253 M 1250 1 1 "" esv1010924 7 124119978 124130635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564930 S 3 0 1 "" HuRef nsv366106 7 124175546 124175643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384684 M 24 GPR37 dgv7475n71 7 124249317 124372070 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889134,nsv889135 M 6533 0 2 POT1 IS33616,MS18978 nsv889136 7 124279274 124340038 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600984 S 6533 0 1 POT1 IS41955 nsv824297 7 124285829 124286269 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425857 S 31 1 0 POT1 AK4 dgv7476n71 7 124301006 124372070 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889137,nsv889138 M 6533 0 3 POT1 IS34962,IS38463,MS17642 nsv525729 7 124325272 124336809 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701893 S 2026 1 0 POT1 esv271106 7 124380228 124380559 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558102,essv2565693,essv2541063,essv2546591,essv2536630,essv2544010,essv2570970,essv2568341,essv2545482,essv2577498,essv2570476,essv2548318,essv2521464,essv2576742,essv2550707,essv2535238,essv2554063,essv2544321,essv2552306,essv2520520,essv2547294,essv2529369,essv2558503,essv2564525,essv2577668,essv2553747,essv2559725,essv2565457,essv2519940,essv2563978,essv2554966,essv2530618,essv2528271,essv2547096,essv2557247,essv2532100,essv2569381,essv2578513,essv2536938,essv2527385,essv2544773,essv2523927,essv2552867,essv2541440,essv2542913,essv2540419,essv2524431,essv2564922,essv2534516,essv2561138,essv2539557,essv2549262,essv2519820,essv2559966,essv2522108,essv2566283,essv2531077,essv2532812,essv2567907,essv2528686,essv2541851,essv2570087,essv2563712,essv2572317,essv2566815,essv2527737,essv2578189,essv2573271,essv2533618,essv2567231,essv2566479,essv2573815,essv2527445,essv2557705,essv2531506,essv2573446,essv2543371,essv2571901,essv2529727,essv2575737,essv2575340,essv2526472,essv2560713,essv2568498,essv2549929,essv2571261,essv2546132,essv2574276,essv2537842,essv2548849,essv2533082,essv2547802,essv2524960 M 157 93 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07347,NA07357,NA10851,NA11829,NA11831,NA11881,NA11920,NA11992,NA11993,NA11995,NA12003,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12873,NA12891,NA12892,NA18501,NA18505,NA18508,NA18510,NA18517,NA18522,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18609,NA18853,NA18907,NA18940,NA18942,NA18944,NA18947,NA18948,NA18951,NA18952,NA18953,NA18961,NA18964,NA18965,NA18973,NA19093,NA19099,NA19102,NA19114,NA19116,NA19147,NA19225,NA19238,NA19239,NA19240 esv273227 7 124380229 124380558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581641,essv2583138,essv2583978,essv2584552,essv2583659 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv366455 7 124380261 124380261 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385033 M 24 "" nsv889139 7 124387741 124554531 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562570 S 6533 1 0 "" MS25648 esv2215066 7 124388804 124389193 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4790806 S 1 0 1 "" NA18507 nsv437571 7 124441777 124446460 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467452 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 esv25082 7 124443518 124444234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13785 S 451 0 1 "" NA19129 nsv438003 7 124445291 124445836 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469083,nssv469082 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19127,NA19129 nsv464708 7 124490992 124592515 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540574 S 1557 0 1 "" 1780854496_A nsv831119 7 124501245 124677355 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446445 S 95 1 0 "" nsv5934 7 124551810 124583938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5019 S 9 1 0 "" NA19129 esv2422188 7 124570109 125041439 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161441 S 181 0 1 "" ND04586 esv2481148 7 124653018 124654496 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187988 S 1 0 1 "" NA18507 nsv507413 7 124664827 124670827 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621888 S 4 1 0 "" NA10860 esv2645756 7 124665939 124666619 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191765 S 1 1 0 "" NA18507 esv1162342 7 124666347 124666347 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666794 S 2 1 0 "" HuRef nsv824299 7 124680503 124683922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436745,nssv1428393,nssv1430672 M 31 0 3 "" AK10,AK16,NA18542 dgv7477n71 7 124708264 124860205 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889141,nsv889140 M 6533 0 2 "" IS31145,MS19634 nsv507414 7 124710599 124716599 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620392 S 4 1 0 "" NA15510 nsv818552 7 124744869 124749321 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417676 S 112 1 0 "" NA18994 dgv7478n71 7 124746042 124855816 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889142,nsv889144 M 6533 0 2 "" IS36527,SP58537 esv2653196 7 124762893 124764477 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185030 S 1 0 1 "" NA18507 nsv889143 7 124764972 124829260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597769 S 6533 0 1 "" IS41292 nsv889145 7 124764972 125019235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562502 S 6533 0 1 "" MS25617 esv993302 7 124776689 124776746 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572279 S 3 0 1 "" HuRef nsv889146 7 124784023 124870256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552605 S 6533 0 1 "" MS19529 nsv831120 7 124832010 124994932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446450,nssv1446448,nssv1446452,nssv1446449,nssv1446453,nssv1446457,nssv1446456,nssv1446455,nssv1446454,nssv1446447,nssv1446446 M 95 11 0 "" esv268948 7 124840223 124840572 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504230,essv2493629,essv2507319,essv2509431,essv2497050 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18517,NA18912,NA19129,NA19190 nsv889147 7 124875387 124963935 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546165 S 6533 0 1 "" MS17114 nsv889148 7 124918778 125019235 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553076,nssv1581537,nssv1553939,nssv1572213,nssv1578459,nssv1600475 M 6533 0 6 "" IS32891,IS34782,IS35622,IS41889,MS19721,MS20440 nsv889149 7 124940454 124984206 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513069 S 6533 1 0 "" SP55677 nsv516896 7 124963935 124973406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686030,nssv690636,nssv690717,nssv681362,nssv658846,nssv673271,nssv653473 M 2026 0 7 "" nsv464710 7 124984206 125074715 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540575 S 1557 0 1 "" NINDS_172 nsv529033 7 125006779 125032420 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705744 S 2026 1 0 "" nsv889150 7 125019270 125503871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523816 S 6533 0 1 "" SP54220 dgv7479n71 7 125033778 125157930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889152,nsv889151 M 6533 0 3 "" IS35572,IS40067,SP53449 nsv889153 7 125033778 125309231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546166 S 6533 0 1 "" MS17114 esv993779 7 125051455 125051455 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585374 S 3 1 0 "" HuRef esv1123764 7 125051456 125051456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642547 S 2 1 0 "" HuRef nsv365821 7 125051457 125051457 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384399 M 24 "" esv2537140 7 125052011 125053740 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225221 S 1 0 1 "" NA18507 esv2133204 7 125052146 125052870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787945 S 1 0 1 "" NA18507 esv3744 7 125052259 125052717 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26185 S 1 0 1 Single Asian sample YH "" YH esv1008622 7 125052334 125052664 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567598 S 3 0 1 "" HuRef esv6243 7 125052343 125052663 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28684 S 1 0 1 "" SJK esv1531320 7 125052346 125052677 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874153 S 2 0 1 "" HuRef dgv7480n71 7 125071275 125179594 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889155,nsv889154 M 6533 0 2 "" IS31285,IS35229 nsv889156 7 125074715 125250953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585018 S 6533 0 1 "" IS37226 nsv520188 7 125157930 125249414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697270 S 2026 0 1 "" nsv5935 7 125162055 125197382 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3577 S 9 1 0 "" NA12878 esv270845 7 125162152 125162412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511396,essv2508507,essv2502576,essv2503866,essv2505042 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA12717,NA12750,NA12761,NA12828 nsv889157 7 125162980 125300258 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569967 S 6533 0 1 "" IS31758 nsv889158 7 125206162 125255381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600985 S 6533 0 1 "" IS41955 nsv889159 7 125206162 125714729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577890 S 6533 0 1 "" IS34599 nsv470390 7 125226116 125363734 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546209 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00911 nsv520060 7 125226116 125369736 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677930,nssv679604,nssv704635,nssv672993,nssv660348,nssv698351,nssv679451,nssv684656 M 2026 0 8 "" nsv5936 7 125234434 125262884 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8420 S 9 0 1 "" NA12156 nsv510113 7 125249667 125255667 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621323 S 4 0 1 "" NA15510 nsv889160 7 125255643 125330627 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567779 S 6533 0 1 "" IS31145 nsv889161 7 125255643 125579136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591726 S 6533 0 1 "" IS39011 esv2422062 7 125259935 125263279 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5120207,essv5096660,essv5117534,essv5155854,essv5084426,essv5091191,essv5137697,essv5144751,essv5076215,essv5070306,essv5117503,essv5137915,essv5013215,essv5134349,essv5086862,essv5037470,essv5010513,essv5033784,essv5102154,essv5017218,essv5009506,essv5153203,essv5013509,essv5121909,essv5066345 M 1184 0 25 "" NA19028,NA19130,NA19172,NA19173,NA19176,NA19192,NA19248,NA19346,NA19375,NA19385,NA19404,NA19428,NA19625,NA19712,NA19916,NA20357,NA21479,NA21480,NA21509,NA21510,NA21513,NA21524,NA21685,NA21740,NA21784 nsv442068 7 125259938 125263279 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv889162 7 125324655 125439724 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552365 S 6533 0 1 "" MS19365 esv267725 7 125335439 125335589 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511883,essv2493662,essv2494781,essv2506295,essv2498342,essv2494585,essv2498508,essv2505685,essv2513502,essv2509252,essv2501325,essv2499178,essv2497687,essv2496965,essv2495827 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA18499,NA18517,NA18519,NA18523,NA18526,NA18550,NA18858,NA18861,NA18907,NA18909,NA19093,NA19114,NA19147,NA19190 esv27544 7 125345564 125350202 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19414 S 451 0 1 "" NA19108 dgv429n21 7 125353451 125520542 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518236,nsv525348 M 2026 0 2 "" esv33257 7 125358655 125530586 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95758 S 51 0 1 "" 21841 esv1008552 7 125361665 125372748 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565029 S 3 0 1 "" HuRef nsv889163 7 125369736 125503871 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582869 S 6533 0 1 "" IS36195 dgv7481n71 7 125369736 125579136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889164,nsv889165 M 6533 0 14 "" MS10871,MS11497,MS11760,MS12572,MS12913,MS13058,MS14495,MS15220,MS15984,MS16885,MS18159,MS19700,MS21477,MS25042 nsv518344 7 125431892 125517930 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695772 S 2026 0 1 "" dgv7482n71 7 125445706 125517930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889169,nsv889166 M 6533 0 3 "" IS32150,MS12827,MS17114 dgv7483n71 7 125445706 125559356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889174,nsv889167,nsv889170 M 6533 0 3 "" IS35083,IS38630,IS39718 dgv7484n71 7 125445706 125579136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889178,nsv889168,nsv889175 M 6533 0 3 "" MS18620,MS20872,MS21973 essv23857 7 125448045 125609690 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07022 dgv2135e1 7 125448045 125682101 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv170,essv7272 M 271 0 0 "" NA18592 nsv8208 7 125448211 125450178 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16045 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv8209 7 125456886 125464464 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17019,nssv15722 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA12740 dgv7485n71 7 125464161 125517930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889172,nsv889176,nsv889173,nsv889171 M 6533 0 5 "" IS41292,MS17642,SP54579,SP55747,SP56004 dgv7486n71 7 125483036 125542214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889177,nsv889181 M 6533 0 4 "" IS30522,IS37226,SP54030,SP55847 dgv7487n71 7 125488130 125517930 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889180,nsv889179 M 6533 0 4 "" SP55655,SP56138,SP57270,SP57443 esv5607 7 125511452 125511545 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28048 S 1 1 0 "" SJK esv1467494 7 125518439 125518439 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670687 S 2 1 0 "" HuRef nsv889182 7 125567918 125762487 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576855 S 6533 1 0 "" IS34271 dgv7488n71 7 125636087 125718618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889184,nsv889183 M 6533 0 2 "" IS41066,SP54030 esv2057917 7 125645578 125645953 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946117 S 1 0 1 "" NA18507 esv1398951 7 125645670 125645670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963161 S 2 1 0 "" HuRef esv2425247 7 125648570 125649469 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369091 S 1 1 0 "" NA18507 esv274242 7 125648756 125649407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580640 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv268541 7 125648942 125649290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519335,essv2517073,essv2519153,essv2513834,essv2515265,essv2519457 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11931,NA19141,NA19143,NA19238 nsv464711 7 125648944 125727398 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540576 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01253 esv2552176 7 125660570 125661457 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207979 S 1 1 0 "" NA18507 nsv470391 7 125662564 125718618 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546220 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01253 dgv7489n71 7 125665980 125762487 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889185,nsv889186 M 6533 0 2 "" IS35788,IS36787 nsv521671 7 125695181 125695901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698289 S 2026 0 1 "" esv268368 7 125710092 125710426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521250,essv2522794,essv2532347,essv2578688,essv2566958,essv2551025,essv2543132,essv2554490 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11931,NA18505,NA18510,NA18853,NA18858,NA18965 nsv518854 7 125748189 125838952 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696309 S 2026 0 1 "" nsv507415 7 125807965 125813965 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623016 S 4 1 0 "" NA18994 nsv508480 7 125821337 125845439 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622586,nssv617352 M 4 0 2 "" CHM,NA18994 nsv5937 7 125823672 125863248 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5020,nssv6167,nssv3578 M 9 0 3 "" NA12156,NA12878,NA19129 esv2569906 7 125832322 125838347 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256921 S 1 0 1 "" NA18507 nsv8210 7 125832339 125838789 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15070,nssv14621,nssv15980,nssv14899,nssv18387,nssv18561,nssv18863,nssv16383,nssv18132,nssv17221,nssv16829,nssv17049,nssv15474,nssv16024,nssv16237,nssv19620,nssv18403,nssv16245,nssv15806,nssv15782,nssv16548,nssv19124,nssv16476,nssv16066,nssv16618 M 31 0 25 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA11830,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv435855 7 125832531 125839621 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466411 S 2 0 1 "" NA15510 dgv172e180 7 125832532 125839633 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv992420,esv989913 M 3 0 1 "" HuRef esv2422001 7 125832718 125833851 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5068476,essv5060142,essv5151857,essv5036791,essv5072411,essv5025545,essv5007883,essv5009576,essv5036457,essv5005707,essv5075485,essv5024534,essv5036430,essv5049264,essv5136141,essv5103605,essv5036862,essv5087106,essv5159996,essv5029617,essv5012462,essv5123152,essv5096096,essv5095493,essv5043464,essv5113330,essv5148900,essv5081305,essv5154479,essv5114997,essv5143052,essv5043724,essv5137297,essv5131142,essv5025180,essv5122696,essv5155672,essv5160503,essv5143342,essv5075034,essv5036025,essv5090763,essv5160308,essv5051695,essv5076033,essv5077914,essv5070247,essv5009078,essv5112937,essv5042749,essv5072328,essv5129852,essv5010611,essv5138020,essv5078616,essv5148651,essv5089832,essv5054954,essv5045987,essv5035123,essv5085623,essv5107998,essv5046405,essv5157201,essv5128759,essv5092054,essv5119315,essv5121443,essv5111268,essv5023881,essv5126665,essv5126882,essv5159627,essv5021675,essv5052463,essv5083048,essv5107534,essv5115560,essv5137063,essv5036222,essv5134337,essv5050025,essv5119636,essv5156066,essv5150331,essv5049194,essv5068283,essv5062733,essv5014920,essv5080710,essv5114599,essv5030542,essv5047151,essv5006577,essv5014807,essv5034209,essv5031858,essv5065605,essv5074152,essv5036140,essv5123012,essv5024186,essv5054980,essv5147486,essv5119255,essv5149264,essv5071129,essv5106978,essv5099372,essv5036008,essv5040152,essv5053168,essv5125514,essv5145743,essv5044669,essv5078154,essv5084924,essv5132321,essv5132537,essv5045952,essv5018407,essv5032550,essv5067879,essv5006170,essv5010286,essv5101118,essv5097932,essv5029670,essv5157192,essv5152083,essv5078755,essv5051145,essv5158554,essv5012494,essv5028714,essv5028747,essv5010739,essv5113481,essv5025995,essv5070277,essv5008179,essv5071440,essv5113887,essv5094682,essv5078524,essv5135020,essv5068570,essv5154389,essv5123996,essv5131318,essv5109290,essv5034870,essv5132291,essv5153168,essv5105970,essv5140070,essv5115187,essv5134134,essv5134597,essv5095417,essv5041600,essv5020710,essv5040882,essv5075139,essv5018267,essv5055995,essv5121633,essv5151549,essv5067337,essv5090986,essv5026558,essv5009975,essv5134175,essv5084648,essv5006169,essv5027157,essv5026091,essv5125868,essv5123358,essv5066330,essv5024462,essv5131249,essv5005058,essv5131935,essv5123477,essv5062894,essv5074148,essv5122187,essv5147576,essv5117956,essv5130280,essv5036131,essv5020235,essv5138183,essv5041019,essv5118854,essv5159236,essv5128581,essv5075594,essv5122832,essv5091761,essv5065749,essv5002313,essv5062612,essv5107013,essv5007169,essv5063906,essv5136279,essv5109739,essv5138884,essv5103394,essv5042820,essv5154987,essv5035496,essv5035188,essv5156428,essv5050302,essv5017641,essv5109512,essv5006091,essv5082997,essv5099981,essv5137646,essv5033320,essv5144796,essv5139575,essv5060936,essv5029514,essv5090465,essv5135691,essv5011481,essv5094592,essv5106714,essv5109484,essv5030994,essv5081670,essv5141425,essv5078426,essv5050871,essv5114291,essv5067680,essv5138121,essv5002041,essv5092635,essv5157398,essv5038475,essv5128450,essv5099775,essv5107179,essv5120478,essv5143013,essv5144966,essv5021686,essv5051927,essv5112145,essv5017802,essv5069928,essv5119300,essv5093448,essv5029082,essv5083256,essv5056010,essv5105855,essv5065029,essv5122890,essv5011295,essv5114176,essv5117190,essv5040646,essv5011042,essv5138903,essv5140024,essv5055058,essv5067752,essv5132965,essv5091301,essv5145071,essv5035654,essv5003216,essv5025823,essv5004429,essv5072224,essv5136191,essv5078932,essv5063311,essv5003635,essv5019837,essv5045415,essv5138332,essv5127462,essv5089044,essv5073275,essv5123039,essv5032548,essv5100674,essv5158730,essv5095708,essv5017176,essv5097470,essv5075742,essv5084660,essv5148731,essv5141504,essv5145080,essv5086284,essv5070307,essv5003316,essv5155701,essv5003539,essv5049998,essv5052568,essv5152006,essv5126888,essv5057667,essv5026353,essv5139172,essv5057401,essv5046787,essv5100580,essv5073537,essv5137260,essv5025593,essv5112005,essv5117703,essv5105526,essv5153178,essv5023566,essv5013748,essv5081051,essv5046054,essv5077030,essv5046371,essv5002316,essv5094744,essv5152630,essv5109352,essv5004571,essv5127710,essv5052199,essv5117520,essv5057759,essv5079304,essv5140052,essv5002136,essv5157788,essv5134548,essv5097736,essv5043431,essv5042795,essv5022977,essv5086706,essv5114330,essv5056076,essv5133012,essv5131659,essv5043271,essv5126087,essv5038839,essv5066938,essv5004261,essv5012264,essv5150894,essv5092698,essv5124929,essv5048970,essv5070792,essv5120086,essv5155016,essv5062338,essv5013800,essv5071322,essv5109012,essv5054781,essv5102188,essv5092208,essv5093768,essv5049914,essv5131191,essv5149656,essv5004302,essv5042788,essv5017425,essv5151397,essv5142746,essv5110093,essv5050339,essv5095437,essv5117724,essv5127716,essv5012767,essv5157324,essv5080756,essv5078311,essv5017197,essv5071842,essv5090498,essv5130577,essv5070556,essv5055868,essv5041453,essv5046555,essv5008729,essv5124584,essv5049056,essv5117519,essv5088158,essv5112655,essv5109093,essv5035137,essv5095665,essv5097954,essv5008505,essv5062070,essv5044736,essv5114694,essv5059722,essv5119323,essv5120288,essv5153707,essv5103461,essv5085521,essv5161217,essv5088701,essv5018429,essv5076390,essv5047369,essv5074996,essv5059488,essv5030625,essv5159027,essv5056426,essv5110833,essv5066820,essv5132139,essv5029429,essv5133635,essv5050160,essv5094465,essv5015718,essv5002590,essv5026170,essv5060884,essv5117405,essv5094359,essv5007393,essv5104995,essv5097404,essv5079034,essv5152904,essv5117897,essv5077621,essv5089487,essv5133092,essv5083603,essv5077929,essv5044184,essv5144836,essv5123448,essv5090527,essv5010877,essv5012850,essv5038903,essv5025826,essv5082029,essv5018026,essv5107894,essv5091346,essv5041351,essv5060045,essv5077159,essv5105000,essv5094335,essv5134314,essv5147299,essv5015892,essv5145976,essv5097380,essv5152197,essv5125303,essv5042628,essv5136041,essv5133424,essv5044912,essv5158574,essv5103073,essv5108464,essv5160880,essv5142113,essv5004400,essv5037454,essv5032586,essv5060583,essv5113767,essv5064955,essv5050390,essv5151386,essv5043912,essv5040929,essv5061733,essv5068300,essv5069143,essv5020613,essv5071520,essv5143586,essv5012176,essv5049099,essv5068141,essv5031806,essv5129442,essv5052244,essv5085712,essv5076959,essv5009942,essv5049339,essv5155881,essv5078236,essv5014381,essv5045797,essv5118983,essv5135549,essv5153339,essv5020205,essv5006886,essv5021380,essv5064629,essv5155024,essv5130910,essv5049233,essv5112067,essv5145035,essv5073107,essv5137597,essv5157745,essv5110914,essv5143639,essv5154874,essv5012159,essv5060983,essv5093975,essv5053889,essv5094443,essv5152161,essv5003302,essv5125272,essv5033660,essv5086627,essv5142739,essv5135605,essv5156474,essv5147722,essv5151343,essv5142631,essv5025337,essv5106618,essv5014056,essv5018155,essv5011853,essv5039943,essv5059942,essv5046822,essv5027284,essv5037249,essv5160875,essv5070032,essv5145535,essv5110710,essv5047391,essv5124866,essv5090840,essv5020432,essv5135043,essv5155304,essv5155274,essv5070399,essv5161118,essv5121766,essv5089102,essv5058808,essv5147203,essv5104031,essv5069066 M 1184 221 360 "" NA06984,NA06985,NA06991,NA06994,NA07014,NA07022,NA07037,NA07045,NA07056,NA07346,NA07348,NA07435,NA10836,NA10838,NA10840,NA10843,NA10845,NA10847,NA10850,NA10861,NA10864,NA11831,NA11893,NA11894,NA11917,NA11920,NA11931,NA11994,NA12006,NA12043,NA12056,NA12144,NA12155,NA12156,NA12234,NA12264,NA12273,NA12275,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12347,NA12413,NA12708,NA12718,NA12750,NA12753,NA12760,NA12761,NA12767,NA12775,NA12812,NA12813,NA12814,NA12815,NA12817,NA12827,NA12828,NA12829,NA12830,NA12865,NA12872,NA12874,NA12875,NA12878,NA12890,NA17962,NA17965,NA17969,NA17972,NA17975,NA17976,NA17977,NA17979,NA17980,NA17982,NA17986,NA17987,NA17988,NA17993,NA17999,NA18102,NA18107,NA18108,NA18109,NA18114,NA18125,NA18127,NA18133,NA18135,NA18136,NA18139,NA18140,NA18141,NA18148,NA18149,NA18153,NA18156,NA18157,NA18158,NA18160,NA18162,NA18166,NA18484,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18500,NA18504,NA18505,NA18506,NA18508,NA18518,NA18536,NA18542,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18563,NA18570,NA18572,NA18579,NA18593,NA18595,NA18596,NA18597,NA18599,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18615,NA18616,NA18618,NA18621,NA18622,NA18626,NA18628,NA18630,NA18632,NA18635,NA18640,NA18641,NA18643,NA18645,NA18689,NA18694,NA18702,NA18740,NA18748,NA18749,NA18859,NA18860,NA18861,NA18863,NA18867,NA18869,NA18870,NA18873,NA18874,NA18875,NA18910,NA18912,NA18913,NA18917,NA18923,NA18924,NA18934,NA18942,NA18943,NA18946,NA18947,NA18948,NA18949,NA18951,NA18953,NA18955,NA18956,NA18957,NA18959,NA18961,NA18966,NA18971,NA18972,NA18976,NA18980,NA18981,NA18987,NA18990,NA18993,NA18994,NA19000,NA19002,NA19007,NA19010,NA19028,NA19035,NA19036,NA19044,NA19055,NA19057,NA19058,NA19074,NA19076,NA19084,NA19086,NA19087,NA19095,NA19096,NA19097,NA19101,NA19103,NA19107,NA19108,NA19109,NA19114,NA19116,NA19117,NA19121,NA19123,NA19127,NA19128,NA19129,NA19131,NA19138,NA19139,NA19140,NA19143,NA19146,NA19152,NA19154,NA19160,NA19171,NA19174,NA19175,NA19176,NA19178,NA19180,NA19181,NA19182,NA19184,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19199,NA19203,NA19204,NA19206,NA19207,NA19208,NA19211,NA19215,NA19222,NA19225,NA19226,NA19236,NA19238,NA19256,NA19257,NA19311,NA19313,NA19315,NA19316,NA19317,NA19319,NA19321,NA19328,NA19332,NA19371,NA19373,NA19374,NA19375,NA19376,NA19377,NA19381,NA19382,NA19383,NA19385,NA19390,NA19393,NA19394,NA19397,NA19398,NA19434,NA19435,NA19440,NA19443,NA19444,NA19445,NA19446,NA19449,NA19451,NA19455,NA19456,NA19463,NA19466,NA19467,NA19470,NA19472,NA19473,NA19625,NA19649,NA19650,NA19651,NA19656,NA19658,NA19660,NA19661,NA19662,NA19663,NA19670,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19703,NA19708,NA19711,NA19712,NA19713,NA19714,NA19718,NA19720,NA19721,NA19723,NA19724,NA19726,NA19747,NA19751,NA19755,NA19756,NA19757,NA19760,NA19761,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19776,NA19779,NA19780,NA19782,NA19783,NA19784,NA19789,NA19790,NA19794,NA19795,NA19819,NA19835,NA19900,NA19901,NA19908,NA19983,NA19985,NA20127,NA20129,NA20276,NA20282,NA20284,NA20291,NA20294,NA20297,NA20301,NA20317,NA20319,NA20332,NA20333,NA20334,NA20336,NA20342,NA20343,NA20345,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20504,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20522,NA20529,NA20534,NA20538,NA20539,NA20540,NA20541,NA20544,NA20582,NA20586,NA20588,NA20753,NA20757,NA20758,NA20759,NA20765,NA20768,NA20769,NA20770,NA20774,NA20778,NA20783,NA20785,NA20787,NA20790,NA20795,NA20797,NA20799,NA20802,NA20803,NA20806,NA20808,NA20810,NA20811,NA20815,NA20818,NA20819,NA20826,NA20828,NA20849,NA20850,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20870,NA20873,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20885,NA20887,NA20888,NA20891,NA20894,NA20895,NA20896,NA20897,NA20900,NA20902,NA20903,NA20904,NA20907,NA20908,NA21092,NA21098,NA21103,NA21105,NA21107,NA21108,NA21112,NA21113,NA21115,NA21117,NA21119,NA21141,NA21295,NA21301,NA21302,NA21303,NA21307,NA21308,NA21311,NA21313,NA21314,NA21316,NA21317,NA21318,NA21333,NA21344,NA21353,NA21357,NA21359,NA21360,NA21361,NA21365,NA21367,NA21370,NA21379,NA21381,NA21382,NA21383,NA21386,NA21388,NA21403,NA21414,NA21417,NA21420,NA21421,NA21425,NA21435,NA21436,NA21438,NA21439,NA21448,NA21453,NA21455,NA21475,NA21476,NA21479,NA21488,NA21490,NA21493,NA21494,NA21509,NA21512,NA21517,NA21520,NA21523,NA21527,NA21577,NA21580,NA21583,NA21596,NA21599,NA21613,NA21615,NA21616,NA21619,NA21631,NA21632,NA21634,NA21636,NA21648,NA21678,NA21682,NA21685,NA21689,NA21693,NA21717,NA21719,NA21722,NA21733,NA21738,NA21741,NA21776,NA21825 nsv442143 7 125832718 125833851 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2450596 7 125832755 125839602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285095 S 1 0 1 "" NA18507 nsv511989 7 125832777 125839187 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624534 S 1 0 1 "" 1 esv1944792 7 125832933 125838879 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4543018 S 1 0 1 "" NA18507 dgv1134n67 7 125833045 125838711 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824301,nsv824300,nsv824302,nsv824303 M 31 0 22 "" AK10,AK12,AK14,AK16,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18951,NA18968,NA18969,NA18973,NA18997,NA18999 nsv819603 7 125833074 125838139 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419680 S 2 0 1 "" AK1 esv5217 7 125833088 125838731 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27658 S 1 0 1 Single Asian sample YH "" YH nsv499585 7 125833122 125838687 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586046 S 9 0 1 "" esv1082963 7 125833125 125838686 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764543 S 2 0 1 "" HuRef dgv173e180 7 125833128 125838669 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv988668,esv995203 M 3 0 1 "" HuRef esv6159 7 125833128 125838682 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28600 S 1 0 1 "" SJK esv24928 7 125833145 125838669 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14251 S 451 0 31 "" NA06985,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 nsv514450 7 125833248 125837584 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627908 S 1414 0 1 "" esv2421485 7 125833260 125833851 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129231,essv5149005,essv5098083,essv5090281,essv5102307,essv5080859,essv5019031,essv5118327,essv5075331,essv5105630,essv5137174,essv5026940,essv5088940,essv5018071,essv5026757,essv5121809,essv5081974,essv5075602,essv5152044,essv5132264,essv5136240,essv5028497,essv5077967,essv5135519,essv5055707,essv5100724,essv5053807,essv5074988,essv5058445,essv5049321,essv5034480,essv5133514,essv5055499,essv5105231,essv5052359,essv5123438,essv5069328,essv5135462,essv5020209,essv5123327,essv5050345,essv5116151,essv5050475,essv5064310,essv5129903,essv5036089,essv5110291,essv5011126,essv5143995,essv5044213,essv5027646,essv5117928,essv5120188,essv5048040,essv5042457,essv5107508,essv5048116,essv5025256,essv5144130,essv5150386,essv5140532,essv5153337,essv5145653,essv5099651,essv5015245,essv5039388,essv5100076,essv5023121,essv5011498,essv5085557,essv5039264,essv5072442,essv5114252,essv5121924,essv5146059,essv5062852,essv5024044,essv5025937,essv5160313,essv5113915,essv5079331,essv5010982,essv5026465,essv5062372,essv5062317,essv5137474,essv5061159,essv5015791,essv5142343,essv5069627,essv5065226,essv5010955,essv5088234,essv5046323,essv5036536,essv5030817,essv5152268,essv5144670,essv5121148,essv5099521,essv5059520,essv5040217,essv5107833,essv5048414,essv5052251,essv5071799,essv5091649,essv5115600,essv5100191,essv5123987,essv5108300,essv5057474,essv5153479,essv5084287,essv5007662,essv5004881,essv5029269,essv5160806,essv5072662,essv5090080,essv5016307,essv5081907,essv5101628,essv5116083,essv5155580,essv5097729,essv5079649,essv5025293,essv5086683,essv5009368,essv5041884,essv5119093,essv5020217,essv5120742,essv5157572,essv5127096,essv5145925,essv5025983,essv5148428,essv5141117,essv5148623,essv5005513,essv5072928,essv5157957,essv5143023,essv5136854,essv5147003,essv5160744,essv5062628,essv5065500,essv5151053,essv5022509,essv5007157,essv5066351,essv5081236,essv5134164,essv5079841,essv5080017,essv5028271,essv5076282,essv5110903,essv5053844,essv5019187,essv5118917,essv5056359,essv5008462,essv5124016,essv5068286,essv5074681,essv5139832,essv5012461,essv5098380,essv5028172,essv5060482,essv5146536,essv5067545,essv5130539,essv5032808,essv5052815,essv5090139,essv5141351,essv5032142,essv5047696,essv5128777,essv5148042,essv5143742,essv5144641,essv5037958,essv5088969,essv5053013,essv5056885,essv5056147,essv5117041,essv5026813,essv5028855,essv5030088,essv5032769,essv5007486,essv5108302,essv5023585,essv5020239,essv5022143,essv5145766,essv5112678,essv5113424,essv5024661,essv5075420,essv5111558,essv5038493,essv5127910,essv5005888,essv5097283,essv5106125,essv5008589,essv5003168,essv5098456,essv5156410,essv5112812,essv5044232,essv5088521,essv5121682,essv5058248,essv5086031,essv5144253,essv5142890,essv5140154,essv5120592,essv5077523,essv5100997,essv5043691,essv5034181,essv5019530,essv5026438,essv5042683,essv5047519,essv5004175,essv5066770,essv5121214,essv5063302,essv5056186,essv5069366,essv5042228,essv5153042,essv5059284,essv5072284,essv5032240,essv5107798,essv5079756,essv5058337,essv5038889,essv5101905,essv5052589,essv5009884,essv5151520,essv5160563,essv5136800,essv5051958,essv5154787,essv5054298,essv5143384,essv5134196,essv5155209,essv5109935,essv5117145,essv5108356,essv5134096,essv5011399,essv5098448,essv5072553,essv5003633,essv5004359,essv5019518,essv5157751,essv5019840,essv5011046,essv5130437,essv5097904,essv5138207,essv5115695,essv5049039,essv5091723,essv5102426,essv5110724,essv5139741,essv5064198,essv5022174,essv5037097,essv5151151,essv5016319,essv5083711,essv5047706,essv5102644,essv5147029,essv5086524,essv5096010,essv5143365,essv5061175,essv5051291,essv5062011,essv5089313,essv5144488,essv5103021,essv5032119,essv5151708,essv5063150,essv5060654,essv5158292,essv5150995,essv5013081,essv5107287,essv5015114,essv5011966,essv5096966,essv5113529,essv5132096,essv5023948,essv5149777,essv5009375,essv5070139,essv5142480,essv5089335,essv5021771,essv5012838,essv5100105,essv5005497,essv5048500,essv5136849,essv5138610,essv5119633,essv5118572,essv5061110,essv5082315,essv5046129,essv5161086,essv5048698,essv5017389,essv5038205,essv5023128,essv5067364,essv5129153,essv5007341,essv5067799,essv5036504,essv5111594,essv5156031,essv5143771,essv5006985,essv5025712,essv5007758,essv5121559,essv5160159,essv5074233,essv5124933,essv5126861,essv5084591,essv5120349,essv5017685,essv5013476,essv5112222,essv5074320,essv5135531,essv5149369,essv5150171,essv5094741,essv5052016,essv5144005,essv5049768,essv5006570,essv5018204,essv5080160,essv5080700,essv5100215,essv5049424,essv5003246,essv5096965,essv5119137,essv5038544,essv5113943,essv5160497,essv5043559,essv5043811,essv5007729,essv5027224,essv5085730,essv5117101,essv5021841,essv5095786,essv5142289,essv5154398,essv5072121,essv5131619,essv5146290,essv5032455,essv5065037,essv5016249,essv5039974,essv5117649,essv5047828,essv5116539,essv5146872,essv5009922,essv5128277,essv5021144,essv5093087,essv5011531,essv5140928,essv5011033,essv5117827,essv5040202,essv5016137,essv5049725,essv5129358,essv5080352,essv5011932,essv5035159,essv5045699,essv5104604,essv5003378,essv5119087,essv5078797,essv5049944,essv5050056,essv5079343,essv5156190,essv5061906,essv5040396,essv5160128,essv5137041,essv5151268,essv5125646,essv5019923,essv5152683,essv5159391,essv5074110,essv5002560,essv5032770,essv5050955,essv5050701,essv5144363,essv5021823,essv5065152,essv5040871,essv5037925,essv5098266,essv5136633,essv5064032,essv5144293,essv5153509,essv5073147,essv5017969,essv5096694,essv5085053,essv5032094,essv5132002,essv5069514,essv5046120,essv5058607,essv5066910,essv5145446,essv5136618,essv5051505,essv5129447,essv5098525,essv5025470,essv5038364,essv5089660,essv5131380,essv5034155,essv5096002,essv5038053,essv5038421,essv5020155,essv5042849,essv5058791,essv5157743,essv5098998,essv5021916,essv5026337,essv5055424,essv5077094,essv5050082,essv5025946,essv5047468,essv5061102,essv5159730,essv5050458,essv5038542,essv5095068,essv5048451,essv5113518,essv5074579,essv5020608,essv5111870,essv5036679,essv5012002,essv5143026,essv5047653,essv5038527,essv5053678,essv5157560,essv5114412,essv5016331,essv5095611,essv5067610,essv5093785,essv5073445,essv5058734,essv5132533,essv5149039,essv5025463,essv5074433,essv5079619,essv5110806,essv5022601,essv5107610,essv5120424,essv5047333,essv5153469,essv5045357,essv5125406,essv5120575,essv5036734,essv5138036,essv5132186,essv5159190,essv5148860,essv5115283,essv5020927,essv5124303,essv5026690,essv5070730,essv5040554,essv5006436,essv5052072,essv5020804,essv5045186,essv5067019,essv5050649,essv5078541,essv5118552,essv5109071,essv5085915,essv5059459,essv5055013,essv5148327,essv5139451,essv5134527,essv5024841,essv5138978,essv5005615,essv5115986,essv5113578,essv5139479,essv5074722,essv5092179,essv5045198,essv5136362,essv5097364,essv5031490,essv5135026,essv5003179,essv5077419,essv5119098,essv5064061,essv5075406,essv5011164,essv5052557,essv5076927,essv5096874,essv5001923,essv5134606,essv5147775,essv5057032,essv5104149,essv5077000,essv5065305,essv5121781,essv5156342,essv5038095,essv5037656,essv5097905,essv5075104,essv5042925,essv5130933,essv5140564,essv5090167,essv5131877,essv5119615,essv5055736,essv5022265,essv5039628,essv5110647,essv5110295,essv5143484,essv5025720,essv5015379,essv5146017,essv5121493,essv5006450,essv5056881,essv5092322,essv5142674,essv5150479,essv5111022,essv5115203,essv5031652,essv5034603,essv5146418,essv5008048,essv5053862,essv5151033,essv5125218,essv5085346,essv5026077,essv5010049,essv5066017,essv5089092,essv5014081,essv5142000,essv5103565,essv5121211,essv5141324,essv5131843,essv5155677,essv5131582,essv5107440,essv5072413,essv5141978,essv5057924,essv5003119,essv5061864,essv5037308,essv5109727,essv5093410,essv5136502,essv5046744,essv5030705,essv5125879,essv5135949,essv5157383,essv5030666,essv5045431,essv5033077,essv5085251,essv5102759,essv5077679,essv5065803,essv5122694,essv5127191,essv5025330,essv5020187,essv5032047,essv5037747,essv5007927,essv5027709,essv5089644,essv5031530,essv5093485,essv5055009,essv5101944,essv5024399,essv5142424,essv5094731,essv5060223,essv5117835,essv5033234,essv5026481,essv5063930,essv5083742,essv5114326,essv5147091,essv5030871,essv5061091,essv5010545,essv5017395,essv5017387,essv5016827,essv5015658,essv5102164,essv5126513,essv5100901,essv5139604,essv5076032,essv5006700,essv5020829,essv5047807,essv5050893,essv5098801,essv5127966,essv5128980,essv5103053,essv5120257,essv5108330,essv5050084,essv5048366,essv5077854,essv5081546,essv5106558,essv5072882,essv5044191,essv5158346,essv5128010,essv5050897,essv5119607,essv5046256,essv5004626,essv5003552,essv5133603,essv5089032,essv5143399,essv5081343,essv5142496,essv5134029,essv5158866,essv5119873,essv5119642,essv5137766,essv5073265,essv5102918,essv5145160,essv5134797,essv5123528,essv5115840,essv5039484,essv5005118,essv5100632,essv5117485,essv5131463,essv5067851,essv5138855,essv5148350,essv5102825,essv5028792,essv5027252,essv5034473,essv5023204,essv5032114,essv5087327,essv5126411,essv5003075,essv5005653,essv5152094,essv5010552,essv5081720,essv5099943,essv5085974,essv5002575,essv5147651,essv5154452,essv5087244,essv5068225,essv5134225,essv5069263,essv5003217,essv5035714,essv5139008,essv5038986,essv5058805,essv5086530,essv5063041,essv5027761,essv5134365,essv5112435,essv5088346,essv5094784,essv5077358,essv5069003,essv5058489,essv5057389,essv5152267,essv5126561,essv5139027,essv5008321,essv5034778,essv5117368,essv5006865,essv5051757,essv5032910,essv5051953,essv5053192,essv5003933,essv5076377,essv5030280,essv5051025,essv5134146,essv5025316,essv5108131,essv5046477,essv5041329,essv5005256,essv5106672,essv5071471,essv5051727,essv5016967,essv5007110,essv5003102,essv5015145,essv5142844,essv5159663,essv5084177,essv5136691,essv5083400,essv5110754,essv5010640,essv5100536,essv5131349,essv5054788,essv5019789,essv5103228,essv5024596,essv5149964,essv5151968,essv5026820,essv5117174,essv5105671,essv5142127,essv5110868,essv5146723,essv5091284,essv5160827,essv5131078,essv5128323,essv5058376,essv5064096,essv5030799,essv5158154,essv5026941,essv5071430,essv5087462,essv5103028,essv5050510,essv5070583,essv5103123,essv5067233,essv5046196,essv5027857,essv5053915,essv5025896,essv5114534,essv5075200,essv5087305,essv5096802,essv5067796,essv5030771,essv5102158,essv5125572,essv5079530,essv5045164,essv5109641,essv5039486,essv5100475,essv5093349,essv5006435,essv5150427,essv5158021,essv5093297,essv5130029,essv5109550,essv5092885,essv5056767,essv5100917,essv5099554,essv5001946,essv5006375,essv5010112,essv5020544,essv5102131,essv5104276,essv5145584,essv5118185,essv5140008,essv5150625,essv5005805,essv5055773,essv5021207,essv5016520,essv5056472,essv5149494,essv5046364,essv5120989,essv5092652,essv5076187,essv5047643,essv5143351,essv5063734,essv5035407,essv5066324,essv5079123,essv5051599,essv5134803,essv5153425,essv5046626,essv5038059,essv5143600,essv5101318,essv5014542,essv5042771,essv5004943,essv5102902,essv5158101,essv5154233,essv5106065,essv5153547,essv5150979,essv5046476,essv5046590,essv5157092,essv5033952,essv5019163,essv5130653,essv5125429,essv5107955,essv5109464,essv5158879,essv5044365,essv5124644,essv5028881,essv5006912,essv5053884,essv5014092,essv5137466,essv5111916,essv5010905,essv5073625,essv5151401,essv5048528,essv5055180,essv5038222,essv5016113,essv5091392,essv5113535,essv5127827,essv5066373,essv5102343,essv5071377,essv5067789,essv5047552,essv5052925,essv5044192,essv5058380,essv5012569,essv5076982,essv5021671,essv5120640,essv5093413,essv5055980,essv5119134,essv5008717,essv5125326,essv5044161,essv5107110,essv5132519,essv5055402,essv5118249,essv5041364,essv5151660 M 1184 0 956 "" 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nsv438005 7 125833801 125836509 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469160,nssv469162,nssv469147,nssv469115,nssv469153,nssv469140,nssv469090,nssv469133,nssv469118,nssv469117,nssv469159,nssv469126,nssv469142,nssv469110,nssv469128,nssv469109,nssv469092,nssv469112,nssv469131,nssv469122,nssv469144,nssv469116,nssv469088,nssv469134,nssv469094,nssv469123,nssv469129,nssv469145,nssv469121,nssv469111,nssv469139,nssv469089,nssv469104,nssv469161,nssv469084,nssv469157,nssv469155,nssv469091,nssv469102,nssv469149,nssv469151,nssv469132,nssv469156,nssv469093,nssv469100,nssv469148,nssv469150,nssv469106,nssv469120,nssv469095,nssv469137,nssv469114,nssv469146,nssv469113,nssv469105,nssv469087,nssv469099,nssv469125,nssv469085,nssv469127,nssv469136,nssv469154,nssv469138,nssv469098,nssv469096,nssv469158,nssv469103,nssv469124,nssv469135,nssv469107,nssv469101,nssv469143 M 269 0 72 Samples from several populations that are part of the HapMap project. "" NA10830,NA10835,NA10839,NA10846,NA10854,NA10860,NA11840,NA11992,NA12005,NA12145,NA12154,NA12248,NA18504,NA18506,NA18508,NA18521,NA18522,NA18523,NA18540,NA18542,NA18547,NA18552,NA18572,NA18579,NA18593,NA18608,NA18609,NA18611,NA18622,NA18635,NA18859,NA18860,NA18861,NA18863,NA18870,NA18913,NA18943,NA18951,NA18959,NA18971,NA18972,NA18976,NA18981,NA18987,NA18994,NA19007,NA19101,NA19103,NA19116,NA19127,NA19128,NA19129,NA19131,NA19138,NA19139,NA19140,NA19143,NA19145,NA19152,NA19154,NA19160,NA19192,NA19193,NA19194,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19222,NA19238 esv2421524 7 125836509 125836837 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158774,essv5113760,essv5095402,essv5024080,essv5016762,essv5033271,essv5093172,essv5015801,essv5026492,essv5054229,essv5083228,essv5043521,essv5137273,essv5029972,essv5069782,essv5047176,essv5006782,essv5016710,essv5138945,essv5030663,essv5086112,essv5073915,essv5112446,essv5087176,essv5096039,essv5133215,essv5065497,essv5149649,essv5142030,essv5153052,essv5047473,essv5043924,essv5159472,essv5062192,essv5085033,essv5030531,essv5049739,essv5116152,essv5130922,essv5091937,essv5158059,essv5091024,essv5099205,essv5073870,essv5012744,essv5051249,essv5079543,essv5099222,essv5003343,essv5140092,essv5075232,essv5136127,essv5048304,essv5038125,essv5046945,essv5130468,essv5051842,essv5092060,essv5125960,essv5109957,essv5035866,essv5089523,essv5020547,essv5121324,essv5092610,essv5127575,essv5004990,essv5031400,essv5012573,essv5099172,essv5129744,essv5132257,essv5077590,essv5095029,essv5099839,essv5103474,essv5123878,essv5153026,essv5023087,essv5103255,essv5074906,essv5109558,essv5014014,essv5055857,essv5009626,essv5086615,essv5107568,essv5045674,essv5089334,essv5106033,essv5044877,essv5060872,essv5018709,essv5085757,essv5124355,essv5081578,essv5025131,essv5121301,essv5064715,essv5008989,essv5089888,essv5160961,essv5124956,essv5082529,essv5136224,essv5048938,essv5150382,essv5024137,essv5119132,essv5095818,essv5132065,essv5104036,essv5078063,essv5147286,essv5104974,essv5124833,essv5070094,essv5008120,essv5063151,essv5005479,essv5148910,essv5057329,essv5025095,essv5135282,essv5127996,essv5070222,essv5136532,essv5102038,essv5009568,essv5020828,essv5109001,essv5147408,essv5117685,essv5144866,essv5061203,essv5113905,essv5109401,essv5113780,essv5060377,essv5010037,essv5065105,essv5046300,essv5027555,essv5030235,essv5041570,essv5080553,essv5098946,essv5087048,essv5067169,essv5054088,essv5029101,essv5051967,essv5101310,essv5110623,essv5025348,essv5094556,essv5097203,essv5064997,essv5160656,essv5072335,essv5097323,essv5029190,essv5004854,essv5101439,essv5051556,essv5081266,essv5075940,essv5030454,essv5108558,essv5068397,essv5100866,essv5044071,essv5097068,essv5079450,essv5066204,essv5089093,essv5075249,essv5112001,essv5033739,essv5079817,essv5153017,essv5149280,essv5104584,essv5040469,essv5084252,essv5042887,essv5139905,essv5100738,essv5003462,essv5107455,essv5152401,essv5131737,essv5058347,essv5050279,essv5034274,essv5074759,essv5038734,essv5124830,essv5090520,essv5051252,essv5108153,essv5085390,essv5124816,essv5129048,essv5010715,essv5079310,essv5145327,essv5003667,essv5023517,essv5026006,essv5010144,essv5059974,essv5007783,essv5016014,essv5024723,essv5035747,essv5026096,essv5083348,essv5131866,essv5122231,essv5118029,essv5094746,essv5159769,essv5127656,essv5024500,essv5085443,essv5079669,essv5039501,essv5104947,essv5099811,essv5057343,essv5158423,essv5100740,essv5121849,essv5073101,essv5142712,essv5157514,essv5053604,essv5096962,essv5091389,essv5106787,essv5021579,essv5037447,essv5065622,essv5152633,essv5121194,essv5095974,essv5111775,essv5144938,essv5035506,essv5084992,essv5091715,essv5096216,essv5118126,essv5064829,essv5117713,essv5147346,essv5115670,essv5084347,essv5022875,essv5054166,essv5024623,essv5031733,essv5105146,essv5155140,essv5155543,essv5048283,essv5092371,essv5103263,essv5015380,essv5099934,essv5023871,essv5113018,essv5151411,essv5091142,essv5128478,essv5023300,essv5035164,essv5131806,essv5158259,essv5131002,essv5118819,essv5007805,essv5115613,essv5043173,essv5045672,essv5062140,essv5008359,essv5051452,essv5124321,essv5070118,essv5157528,essv5102305,essv5089843,essv5031958,essv5120711,essv5083578,essv5034518,essv5086697,essv5150821,essv5060428,essv5089029,essv5136765,essv5098374,essv5124224,essv5020833,essv5109008,essv5093570,essv5105386,essv5075606,essv5139278,essv5156456,essv5101251,essv5140760,essv5119373,essv5111863,essv5077251,essv5080825,essv5076993,essv5055997,essv5060862,essv5044385,essv5049318,essv5064107,essv5121297,essv5008877,essv5097048,essv5132898,essv5050044,essv5155004,essv5073583,essv5074017,essv5035181,essv5104581,essv5103287,essv5096456,essv5064145,essv5131098,essv5129160,essv5046340,essv5109205,essv5005930,essv5043625,essv5073555,essv5058141,essv5100798,essv5071773,essv5136233,essv5013981,essv5049891,essv5062705,essv5082554,essv5028510,essv5081277,essv5116905,essv5037504,essv5028920,essv5140310,essv5111224,essv5025276,essv5043525,essv5118687,essv5004515,essv5103620,essv5139755,essv5007102,essv5079256,essv5031582,essv5109846,essv5022904,essv5047055,essv5054287,essv5059532,essv5069440,essv5019302,essv5034508,essv5074622,essv5069753,essv5020603,essv5063072,essv5057346,essv5059869,essv5111450,essv5141571,essv5087857,essv5109366,essv5106865,essv5005278,essv5039164,essv5104209,essv5060832,essv5028590,essv5041259,essv5058189,essv5026501,essv5038096,essv5070872,essv5109605,essv5030375,essv5073063,essv5101126,essv5092460,essv5042593,essv5094338,essv5012589,essv5059304,essv5083740,essv5039050,essv5061593,essv5118700,essv5053640,essv5109609,essv5160664,essv5024878,essv5133339,essv5126690,essv5065663,essv5083805,essv5068777,essv5045378,essv5056817,essv5028102,essv5155604,essv5144962,essv5105750,essv5057376,essv5031184,essv5154892,essv5009502,essv5036327,essv5123960,essv5075910,essv5020058,essv5062581,essv5051996,essv5024898,essv5026759,essv5029292,essv5051754,essv5153031,essv5112533,essv5141219,essv5043050,essv5112607,essv5134329,essv5039536,essv5008002,essv5127422,essv5048268,essv5031774,essv5151081,essv5142164,essv5134151,essv5010116,essv5048845,essv5094239,essv5129600,essv5080941,essv5049761,essv5151530,essv5084351,essv5119418,essv5051459,essv5144987,essv5049405,essv5081081,essv5046991,essv5077785,essv5117991,essv5100932,essv5120306,essv5084193,essv5110674,essv5099635,essv5053540,essv5091633,essv5135535,essv5013232,essv5036265,essv5078857,essv5115693,essv5015904,essv5047622,essv5095587,essv5042814,essv5153745,essv5014874,essv5158660,essv5068314,essv5022531,essv5097541,essv5002723,essv5013865,essv5152873,essv5010418,essv5029368,essv5061395,essv5086464,essv5130780,essv5160989,essv5106288,essv5034141,essv5139018,essv5098553,essv5052239,essv5002542,essv5079802,essv5049121,essv5018279,essv5150827,essv5013727,essv5020942,essv5093680,essv5115671,essv5129778,essv5080473,essv5065422,essv5039428,essv5097338,essv5077335,essv5152563,essv5124276,essv5096370,essv5122072,essv5148384,essv5006618,essv5137916,essv5117733,essv5133743,essv5047032,essv5130591,essv5029006,essv5126027,essv5082950,essv5148172,essv5114135,essv5105299,essv5012725,essv5076992,essv5120870,essv5153785,essv5153048,essv5023656,essv5027452,essv5008843,essv5075650,essv5097807,essv5109250,essv5020767,essv5020894,essv5137900,essv5138932,essv5048884,essv5123244,essv5032192,essv5066279,essv5098305,essv5155794,essv5008525,essv5029407,essv5101294,essv5128320,essv5143244,essv5032410,essv5155674,essv5155238,essv5098407,essv5020563,essv5098785,essv5103001,essv5044083,essv5073415,essv5055018,essv5094705,essv5043695,essv5109501,essv5078126,essv5133852,essv5081282,essv5103372,essv5009505,essv5005558,essv5087056,essv5154980,essv5107401,essv5080788,essv5148725,essv5138010,essv5065139,essv5010817,essv5059400,essv5059286,essv5087941,essv5056844,essv5125686,essv5039654,essv5028190,essv5030104,essv5144332,essv5012089,essv5031881,essv5072296,essv5031950,essv5087653,essv5021419,essv5057056,essv5067785,essv5144187,essv5002473,essv5092350,essv5141344,essv5136140,essv5141039,essv5011577,essv5121855,essv5157099,essv5014312,essv5023037,essv5147407,essv5149037,essv5070441,essv5086275,essv5045278,essv5038180,essv5146661,essv5077690,essv5152406,essv5085587,essv5132593,essv5006766,essv5074253,essv5111752,essv5130031,essv5085459,essv5056977,essv5053837,essv5031503,essv5028782,essv5142290,essv5107549,essv5058884,essv5109095,essv5036941,essv5117917,essv5049508,essv5027164,essv5106906,essv5041536,essv5138862,essv5156438,essv5100209,essv5008323,essv5003817,essv5053631,essv5127493,essv5146840,essv5107263,essv5158435,essv5006207,essv5002182,essv5007745,essv5115106,essv5101077,essv5087085,essv5113447,essv5151642,essv5068597,essv5134506,essv5143188,essv5077228,essv5057559,essv5042778,essv5130886,essv5089904,essv5118228,essv5006106,essv5155148,essv5160314,essv5153969,essv5029656,essv5099005,essv5131143,essv5008535,essv5104772,essv5128779,essv5051384,essv5149627,essv5125596,essv5146197,essv5118728,essv5119889,essv5037506,essv5122713,essv5011085,essv5052837,essv5009456,essv5068590,essv5145875,essv5137572,essv5107863,essv5124119,essv5027445,essv5081330,essv5094203,essv5080114,essv5080255,essv5119925,essv5059117,essv5022288,essv5109341,essv5151464,essv5143799,essv5050597,essv5124040,essv5117247,essv5139302,essv5008128,essv5081618,essv5050674,essv5131493,essv5002565,essv5088532,essv5009890,essv5058246,essv5155847,essv5130380,essv5155163,essv5122227,essv5140881,essv5049062,essv5006009,essv5056897,essv5093781,essv5143461,essv5053352,essv5104702,essv5053813,essv5157034,essv5086072,essv5067256,essv5108712,essv5009985,essv5096265,essv5156067,essv5119624,essv5096781,essv5026701,essv5024102,essv5045653,essv5120000,essv5103626,essv5121438,essv5068560,essv5077952,essv5160848,essv5085490,essv5047537,essv5089908,essv5115166,essv5081985,essv5055765,essv5045962,essv5078985,essv5037716,essv5025881,essv5082990,essv5057183,essv5018783,essv5106378,essv5103872,essv5028675,essv5016297,essv5142977,essv5144024,essv5146156,essv5116044,essv5083982,essv5070750,essv5018298,essv5160733,essv5047694,essv5062337,essv5006150,essv5070142,essv5039523,essv5009589,essv5028344,essv5138990,essv5004618,essv5086757,essv5136767,essv5081995,essv5004399,essv5035464,essv5138543,essv5025534,essv5081589,essv5073735,essv5040606,essv5037419,essv5025941,essv5037188,essv5156328,essv5114164,essv5063926,essv5014951,essv5137753,essv5039045,essv5108087,essv5157885,essv5025694,essv5009037,essv5132990,essv5139749,essv5038941,essv5089000,essv5131668,essv5014390,essv5084534,essv5077433,essv5083940,essv5091121,essv5032210,essv5006077,essv5157980,essv5075488,essv5143916,essv5106466,essv5106007,essv5118832,essv5071244,essv5015566,essv5060136,essv5055966,essv5027719,essv5054870,essv5038966,essv5039919,essv5142781,essv5076022,essv5059397,essv5110433,essv5107994,essv5041071,essv5005682,essv5062261,essv5009012,essv5106823,essv5060300,essv5100119,essv5128431,essv5054688,essv5089038,essv5111253,essv5027059,essv5006471,essv5057137,essv5096239,essv5145649,essv5024527,essv5141734,essv5109398,essv5125568,essv5125837,essv5099279,essv5037212,essv5129066,essv5160029,essv5141346,essv5058060,essv5126028,essv5158115,essv5124941,essv5034036,essv5042323,essv5042397,essv5149737,essv5041824,essv5145842,essv5104739,essv5024063,essv5098295,essv5102983,essv5156469,essv5056022,essv5126214,essv5106938,essv5022979,essv5066622,essv5130277,essv5115132,essv5133476,essv5050358,essv5123302,essv5152283,essv5076060,essv5117738,essv5025406,essv5140238,essv5116601,essv5160037,essv5039018,essv5137748,essv5078764,essv5012743,essv5083020,essv5020309,essv5023549,essv5022487,essv5050795,essv5052761,essv5010058,essv5022900,essv5045407,essv5068219,essv5020245,essv5159227,essv5042344,essv5120563,essv5131214,essv5066854,essv5010714,essv5053016,essv5091000,essv5121537,essv5085595,essv5111315,essv5107651,essv5038648,essv5100182,essv5070409 M 1184 0 931 "" 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NA20281,NA20282,NA20284,NA20287,NA20288,NA20290,NA20292,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20335,NA20337,NA20340,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20506,NA20508,NA20509,NA20516,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20530,NA20531,NA20535,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20783,NA20785,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20815,NA20816,NA20818,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20854,NA20861,NA20862,NA20866,NA20869,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20881,NA20883,NA20884,NA20885,NA20888,NA20889,NA20890,NA20892,NA20894,NA20896,NA20897,NA20898,NA20899,NA20901,NA20903,NA20904,NA20906,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21109,NA21111,NA21113,NA21115,NA21116,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21300,NA21307,NA21309,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21318,NA21320,NA21336,NA21339,NA21352,NA21353,NA21355,NA21356,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21368,NA21370,NA21371,NA21381,NA21382,NA21383,NA21384,NA21385,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21404,NA21405,NA21408,NA21415,NA21418,NA21420,NA21421,NA21424,NA21434,NA21435,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21457,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21491,NA21493,NA21494,NA21510,NA21512,NA21513,NA21514,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21620,NA21631,NA21632,NA21634,NA21635,NA21636,NA21647,NA21650,NA21678,NA21685,NA21686,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825 nsv525318 7 125850667 125861667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701427 S 2026 0 1 "" esv2609252 7 125915355 125916757 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283869 S 1 0 1 GRM8 NA18507 nsv436533 7 125917786 125922961 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466412 S 2 0 1 Samples from several populations that are part of the HapMap project. GRM8 NA18505 nsv521803 7 125936555 126007002 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694573 S 2026 1 0 GRM8 esv1480862 7 125937939 125937939 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4329989 S 2 1 0 GRM8 HuRef nsv889187 7 126007002 126265426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525353 S 6533 0 1 GRM8 SP56513 nsv5938 7 126057557 126060959 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv683 S 9 1 0 GRM8 NA19240 esv27641 7 126058993 126066163 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20925 S 451 3 0 GRM8 NA19099,NA19225,NA19240 esv33698 7 126062569 126063419 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98274 S 51 0 1 GRM8 21772 esv2622637 7 126066490 126067907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257484 S 1 0 1 GRM8 NA18507 nsv5939 7 126066591 126110014 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8421 S 9 0 1 GRM8 NA12156 esv33690 7 126076009 126076237 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95285,essv99599 M 51 0 2 GRM8 21872,22217 esv2158688 7 126084294 126084717 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879987 S 1 0 1 GRM8 NA18507 esv1009957 7 126084447 126084516 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574853 S 3 0 1 GRM8 HuRef esv1733605 7 126084504 126084574 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875236 S 2 0 1 GRM8 HuRef esv2606684 7 126086471 126088064 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337861 S 1 0 1 GRM8 NA18507 esv1000131 7 126228828 126228829 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566046 S 3 1 0 GRM8 HuRef dgv2136e1 7 126282025 126465079 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv319,essv19408 M 271 0 0 GRM8 NA11840 nsv8211 7 126300419 126320409 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18162,nssv17251,nssv19650,nssv14651,nssv17138,nssv18591,nssv17168,nssv16578,nssv16126,nssv16267,nssv15504 M 31 0 10 Samples from several populations that are part of the HapMap project. GRM8 NA11830,NA12155,NA12872,NA18502,NA18552,NA18564,NA18860,NA18975,NA19221,NA19240 esv26377 7 126301909 126340192 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16629,esv10276 M 451 3 21 GRM8 NA06985,NA07045,NA11995,NA12044,NA12156,NA12287,NA12414,NA12776,NA12878,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240,NA19257 nsv5940 7 126322967 126367896 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8422 S 9 0 1 GRM8 NA12156 nsv831121 7 126380599 126561649 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446458 S 95 1 0 GRM8,MIR592 nsv889188 7 126407791 126433589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584661 S 6533 0 1 GRM8 IS37110 nsv510114 7 126428421 126434421 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624049 S 4 0 1 GRM8 NA18994 esv271306 7 126448599 126448909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501655,essv2503424,essv2507754,essv2497121,essv2508227,essv2511375,essv2494408,essv2500077,essv2508713,essv2496105,essv2499322,essv2509346,essv2507435,essv2504933,essv2511088,essv2497972,essv2512352,essv2500786,essv2510821,essv2497669,essv2512185,essv2498225,essv2513127 M 157 23 0 Samples from several populations that are part of the HapMap project. GRM8 NA10847,NA12144,NA12716,NA12751,NA18552,NA18561,NA18570,NA18572,NA18573,NA18592,NA18603,NA18605,NA18909,NA18912,NA18942,NA18944,NA18945,NA18949,NA18973,NA19116,NA19147,NA19238,NA19240 esv272381 7 126448610 126448935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581877,essv2582519,essv2584300,essv2584578,essv2583866 M 7 5 0 Samples from several populations that are part of the HapMap project. GRM8 NA12878,NA12891,NA19238,NA19239,NA19240 nsv889189 7 126486324 126750264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527366 S 6533 0 1 GRM8 SP58387 nsv5941 7 126498367 126532421 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2775 S 9 1 0 GRM8 NA18555 nsv518034 7 126537558 126540986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695443 S 2026 0 1 GRM8 nsv437572 7 126559798 126568810 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467453 S 60 0 1 Samples from several populations that are part of the HapMap project. GRM8 NA19129 esv2019229 7 126562670 126563141 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4547756 S 1 0 1 GRM8 NA18507 nsv8212 7 126562788 126568877 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18463,nssv18192 M 31 0 2 Samples from several populations that are part of the HapMap project. GRM8 NA18502,NA18504 esv5207 7 126562792 126562992 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27648 S 1 0 1 Single Asian sample YH GRM8 YH esv1000509 7 126562859 126562948 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576644 S 3 0 1 GRM8 HuRef esv1300352 7 126562859 126562949 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051926 S 2 0 1 GRM8 HuRef nsv499782 7 126563412 126568655 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586047 S 9 0 1 GRM8 nsv517633 7 126563455 126567192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652607,nssv661750,nssv679206,nssv698319,nssv687536,nssv663907,nssv686172 M 2026 0 7 GRM8 esv23929 7 126563471 126568626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15450 S 451 0 1 GRM8 NA19129 esv271596 7 126582299 126582384 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519097 S 157 1 0 Samples from several populations that are part of the HapMap project. GRM8 NA19141 esv271135 7 126602538 126602623 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517344 S 157 1 0 Samples from several populations that are part of the HapMap project. GRM8 NA18970 nsv889190 7 126628326 126643293 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573000,nssv1594810 M 6533 0 2 GRM8 IS33218,IS40031 esv271225 7 126657426 126657511 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516633 S 157 1 0 Samples from several populations that are part of the HapMap project. GRM8 NA11881 nsv819682 7 126678040 126682391 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419630 S 2 1 0 GRM8 AK1 nsv523812 7 126745864 126748769 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699642 S 2026 1 0 "" nsv526043 7 126772394 126785446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702276 S 2026 0 1 "" nsv820163 7 126818826 126820443 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419291 S 2 1 0 ZNF800 AK1 nsv519554 7 126859376 126859496 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696917 S 2026 1 0 "" esv33524 7 126904202 126904426 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98812 S 51 0 1 "" 21606 esv33806 7 126915800 126919265 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98815 S 51 0 1 "" 21606 nsv831122 7 126930443 127145121 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446459 S 95 1 0 ARF5,FSCN3,GCC1,PAX4,SND1 esv33152 7 126931896 126931938 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95348 S 51 1 0 "" 21872 esv33857 7 126936085 126936294 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92743,essv96131,essv96666,essv99986,essv94881,essv100418,essv96338 M 51 0 7 "" 21944,22007,22011,22086,22231,22300,22371 nsv518848 7 126945641 126952194 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696301 S 2026 0 1 "" nsv511990 7 127001973 127005398 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624535 S 1 0 1 "" 1 esv5344 7 127002157 127005306 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27785 S 1 0 1 Single Asian sample YH "" YH dgv174e180 7 127002171 127005051 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995835,esv995256 M 3 1 0 "" HuRef nsv820966 7 127002171 127005051 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420698 S 1 0 1 "" NA10851 nsv824304 7 127002171 127005051 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438246,nssv1440446,nssv1437526,nssv1425073,nssv1433749,nssv1429919,nssv1421809,nssv1427619,nssv1430675,nssv1427219,nssv1426782,nssv1423505,nssv1440818,nssv1431417,nssv1429170,nssv1436747,nssv1424313,nssv1428395,nssv1439761,nssv1434502,nssv1432153,nssv1441164,nssv1435190,nssv1433742 M 31 1 23 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18997,NA18999 esv29312 7 127002221 127004934 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19124 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514451 7 127002248 127004688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627909 S 1414 0 1 "" nsv5942 7 127052249 127082782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6168 S 9 1 0 SND1 NA12156 nsv831123 7 127076747 127297632 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446460 S 95 1 0 SND1 nsv510115 7 127114977 127120977 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618274 S 4 0 1 SND1 CHM nsv526535 7 127232830 127411076 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702848 S 2026 1 0 SND1 esv2612143 7 127262270 127263365 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206323 S 1 1 0 SND1 NA18507 esv267464 7 127262868 127263164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502967,essv2508950,essv2506293,essv2495582,essv2510817,essv2497621,essv2497015 M 157 7 0 Samples from several populations that are part of the HapMap project. SND1 NA18507,NA18522,NA18523,NA18916,NA19116,NA19147,NA19190 nsv526032 7 127394710 127404040 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702263 S 2026 0 1 SND1 esv2558418 7 127406676 127408334 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301702 S 1 0 1 SND1 NA18507 esv2401641 7 127407208 127407898 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802371 S 1 0 1 SND1 NA18507 esv997448 7 127407391 127407708 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571658 S 3 0 1 SND1 HuRef nsv365757 7 127407391 127407708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384335 M 24 SND1 esv6141 7 127407402 127407818 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28582 S 1 0 1 SND1 SJK nsv5944 7 127452196 127486080 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8423 S 9 1 0 LRRC4,SND1 NA12156 esv268126 7 127478654 127479015 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512586,essv2493288,essv2502931,essv2506041,essv2495585,essv2496982 M 157 6 0 Samples from several populations that are part of the HapMap project. SND1 NA18489,NA18504,NA18507,NA18523,NA18916,NA19190 esv2591981 7 127553160 127554618 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316687 S 1 0 1 "" NA18507 esv2306945 7 127553468 127554169 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933267 S 1 0 1 "" NA18507 esv8422 7 127553661 127553998 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30863 S 1 0 1 "" SJK esv33413 7 127587300 127716539 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94978 S 51 1 0 LEP,MIR129-1 22231 esv989073 7 127587949 127599563 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565491 S 3 0 1 "" HuRef nsv5945 7 127639240 127668004 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8424 S 9 0 1 "" NA12156 nsv437031 7 127711014 127726697 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466912 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10856 esv2482826 7 127716239 127717168 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195845 S 1 1 0 "" NA18507 nsv525319 7 127716507 127733409 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701428 S 2026 1 0 "" nsv819317 7 127750287 127751392 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419173 S 2 0 1 RBM28 AK1 nsv831124 7 127757581 127935146 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446464,nssv1446463,nssv1446461,nssv1446465,nssv1446466 M 95 1 4 C7orf68,IMPDH1,METTL2B,PRRT4,RBM28 nsv889191 7 127760369 127860562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585868 S 6533 0 1 IMPDH1,PRRT4,RBM28 IS37646 esv2493565 7 127772931 127840613 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189617 S 1 0 1 IMPDH1,PRRT4 NA18507 nsv365384 7 127784528 127788278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383962 M 24 PRRT4 nsv515737 7 127831271 127837653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677251,nssv664637,nssv682787,nssv670214,nssv682442 M 2026 0 5 IMPDH1 nsv365688 7 127839726 127843344 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384266 M 24 "" esv1550261 7 128004578 128004578 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3679676 S 2 1 0 "" HuRef esv2257594 7 128030571 128031007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570787 S 1 0 1 "" NA18507 esv990847 7 128030701 128030784 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583363 S 3 0 1 "" HuRef esv1593725 7 128030785 128030869 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732134 S 2 0 1 "" HuRef esv993870 7 128080143 128082301 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586651 S 3 0 1 FLJ45340 HuRef esv2651159 7 128096102 128097791 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360629 S 1 0 1 "" NA18507 dgv39e194 7 128096264 128096969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2235516,esv2368922 M 1 0 1 "" NA18507 esv3982 7 128096393 128096852 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26423 S 1 0 1 Single Asian sample YH "" YH esv2507136 7 128096447 128096764 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178434 S 1 0 1 "" NA18507 esv1009322 7 128096454 128096771 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576737 S 3 0 1 "" HuRef esv6453 7 128096460 128096763 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28894 S 1 0 1 "" SJK esv1534572 7 128096462 128096780 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609193 S 2 0 1 "" HuRef nsv831125 7 128199941 128382987 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446468,nssv1446467,nssv1446469 M 95 0 3 ATP6V1F,CALU,CCDC136,FLNC,IRF5,KCP,LOC100130705,OPN1SW,TNPO3 esv22837 7 128201725 128380441 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10728 S 451 2 0 ATP6V1F,CCDC136,FLNC,IRF5,KCP,LOC100130705,OPN1SW NA07045,NA18511 nsv889192 7 128213004 128378929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530587 S 6533 0 1 ATP6V1F,CCDC136,FLNC,IRF5,KCP,LOC100130705 MS10311 nsv512922 7 128224977 128225688 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625570 S 1 1 0 CCDC136 1 esv2642516 7 128225189 128226017 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290227 S 1 1 0 CCDC136 NA18507 esv1249692 7 128225639 128225639 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858552 S 2 1 0 CCDC136 HuRef nsv819324 7 128226255 128228925 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419462 S 2 0 1 CCDC136 AK1 nsv517923 7 128232502 128304181 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695334 S 2026 1 0 ATP6V1F,CCDC136,FLNC,KCP,LOC100130705 nsv464713 7 128232502 128308667 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540577 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP6V1F,CCDC136,FLNC,KCP,LOC100130705 HGDP00602 nsv818553 7 128245885 128294533 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415658 S 112 1 0 ATP6V1F,CCDC136,FLNC,LOC100130705 NA12248 dgv7490n71 7 128245885 128347997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889193,nsv889197,nsv889195,nsv889194 M 6533 0 5 ATP6V1F,CCDC136,FLNC,KCP,LOC100130705 IS32322,IS39233,MS10769,MS17208,MS18276 nsv464715 7 128245885 128356196 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540578 S 1557 0 1 ATP6V1F,CCDC136,FLNC,KCP,LOC100130705 NINDS_111 nsv464717 7 128260217 128304181 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540580 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP6V1F,FLNC,KCP,LOC100130705 HGDP01215 nsv470392 7 128260217 128338976 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546231 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP6V1F,FLNC,KCP,LOC100130705 HGDP00599 nsv517371 7 128260217 128361203 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674858,nssv667300,nssv663013,nssv685654,nssv688563,nssv682144,nssv668743,nssv666769,nssv671598,nssv690526,nssv669611,nssv651834,nssv704588,nssv692978,nssv679787,nssv663684,nssv672775,nssv701787,nssv705907 M 2026 2 17 ATP6V1F,FLNC,KCP,LOC100130705 nsv889196 7 128265101 128285181 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506608 S 6533 1 0 FLNC SP54381 nsv889198 7 128278235 128286315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500455 S 6533 0 1 FLNC SP50159 dgv7491n71 7 128304181 128347997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889199,nsv889200 M 6533 0 2 KCP IS33504,IS34057 nsv5946 7 128314205 128343311 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8425 S 9 0 1 KCP NA12156 nsv507416 7 128476849 128482849 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621889,nssv617747,nssv620393 M 4 3 0 TNPO3,TPI1P2 CHM,NA10860,NA15510 esv274481 7 128486403 128486757 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579250,essv2579712 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv5947 7 128492136 128537121 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8426 S 9 0 1 "" NA12156 nsv831127 7 128503492 128661927 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446470 S 95 1 0 AHCYL2,LOC407835,SMO,TSPAN33 esv23894 7 128516242 128519397 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11999 S 451 0 2 "" NA18909,NA19129 esv2306094 7 128517939 128518308 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980279 S 1 0 1 "" NA18507 esv275074 7 128524814 128529270 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585428 S 1250 0 1 "" esv27310 7 128557502 128559173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14926 S 451 0 1 "" NA07037 esv1096622 7 128571955 128571955 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208192 S 2 1 0 TSPAN33 HuRef nsv366371 7 128646226 128646277 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384949 M 24 "" nsv525482 7 128678048 128832427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701610 S 2026 0 1 AHCYL2 nsv516498 7 128688665 128859260 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685674,nssv680178,nssv668689,nssv692923,nssv660854 M 2026 5 0 AHCYL2 nsv831128 7 128850276 129028036 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446471 S 95 1 0 AHCYL2,FAM40B,LOC100287482 esv2559463 7 128853173 128854173 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174316 S 1 1 0 AHCYL2 NA18507 esv273568 7 128853779 128853971 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580350,essv2580851,essv2579052,essv2579526 M 7 4 0 Samples from several populations that are part of the HapMap project. AHCYL2 NA12891,NA19238,NA19239,NA19240 esv268220 7 128853781 128854109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558082,essv2575992,essv2540676,essv2526262,essv2536729,essv2543895,essv2556626,essv2577633,essv2548458,essv2525541,essv2535164,essv2544405,essv2552043,essv2547183,essv2564651,essv2576430,essv2528219,essv2540142,essv2562654,essv2578677,essv2562290,essv2534110,essv2555467,essv2567020,essv2575583,essv2560638,essv2568705,essv2545159,essv2549830,essv2571215,essv2546091,essv2574520,essv2535947,essv2537929,essv2554433,essv2563368 M 157 36 0 Samples from several populations that are part of the HapMap project. AHCYL2 NA06986,NA07000,NA07346,NA10847,NA10851,NA11830,NA11831,NA11918,NA11920,NA11992,NA11994,NA12043,NA12045,NA12156,NA12249,NA12414,NA12489,NA12717,NA12751,NA12814,NA12891,NA18489,NA18507,NA18510,NA18909,NA18916,NA18943,NA18947,NA19099,NA19116,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240 esv2650629 7 128944195 128945031 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5333309 S 1 1 0 "" NA18507 esv1003735 7 128944396 128944396 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566319 S 3 1 0 "" HuRef esv1210961 7 128944415 128944415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661183 S 2 1 0 "" HuRef nsv5948 7 129096027 129106549 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8427 S 9 1 0 NRF1 NA12156 esv23078 7 129167159 129232701 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14232 S 451 2 0 MIR182,MIR183,MIR96,NRF1 NA18511,NA18907 nsv516024 7 129174616 129232187 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683292,nssv676436,nssv675711,nssv698875,nssv679909,nssv689985,nssv702625,nssv660137,nssv671727,nssv674207,nssv696208,nssv665786 M 2026 1 11 MIR182,MIR183,MIR96,NRF1 nsv464721 7 129184880 129232187 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540581 S 1557 0 1 MIR182,MIR183,MIR96 NINDS_98 esv1003060 7 129220709 129220709 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566109 S 3 1 0 "" HuRef esv1767047 7 129220710 129220710 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360914 S 2 1 0 "" HuRef nsv366278 7 129220711 129220711 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384856 M 24 "" esv33085 7 129226084 129233895 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100039 S 51 1 0 "" 22086 nsv819865 7 129230761 129232841 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419382 S 2 1 0 "" AK1 nsv518710 7 129238091 129238180 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694265 S 2026 0 1 "" nsv366414 7 129291648 129300108 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384992 M 24 UBE2H nsv831129 7 129312642 129489713 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446472 S 95 0 1 UBE2H,ZC3HC1 nsv510968 7 129360138 129583820 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621601 S 4 0 0 KLHDC10,UBE2H,ZC3HC1 NA15510 nsv5949 7 129387661 129420725 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5021 S 9 1 0 "" NA19129 nsv824305 7 129469212 129472473 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440829 S 31 0 1 ZC3HC1 NA18547 esv1155183 7 129484712 129484802 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341965 S 2 0 1 "" HuRef nsv366394 7 129546942 129555973 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384972 M 24 KLHDC10 nsv5950 7 129607299 129641606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2776 S 9 1 0 C7orf45,TMEM209 NA18555 nsv508481 7 129621877 129698503 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622587 S 4 0 1 C7orf45,CPA2,TMEM209 NA18994 esv272094 7 129740629 129740714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518675,essv2514774 M 157 2 0 Samples from several populations that are part of the HapMap project. CPA4 NA12045,NA12234 esv23964 7 129771512 129815607 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20713 S 451 2 0 CPA1,CPA5 NA07045,NA18511 nsv515945 7 129774197 129815325 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696708,nssv701779,nssv665400,nssv654679,nssv667301,nssv672644,nssv683293 M 2026 2 5 CPA1,CPA5 nsv831130 7 129845669 129938069 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446474 S 95 0 1 COPG2,MEST,MESTIT1,MIR335,TSGA14 nsv831131 7 129896063 129991707 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446475 S 95 0 1 COPG2,MEST,MESTIT1,MIR335 nsv510969 7 129917267 129964621 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622383,nssv621602,nssv618658,nssv624319 M 4 0 0 COPG2,MEST,MESTIT1,MIR335 CHM,NA10860,NA15510,NA18994 nsv831132 7 129938927 130062693 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446483,nssv1446492,nssv1446491,nssv1446486,nssv1446498,nssv1446487,nssv1446493,nssv1446485,nssv1446494,nssv1446482,nssv1446497,nssv1446496,nssv1446481,nssv1446480,nssv1446478,nssv1446488,nssv1446476,nssv1446477,nssv1446489,nssv1446479,nssv1446490 M 95 9 12 COPG2,TSGA13 nsv521979 7 130226986 130240331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694746 S 2026 0 1 LOC646329 nsv507417 7 130319366 130325366 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617748,nssv621890 M 4 2 0 FLJ43663 CHM,NA10860 nsv831133 7 130338850 130529773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446499 S 95 0 1 FLJ43663,MKLN1 dgv7492n71 7 130371345 130437988 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889201,nsv889203,nsv889202 M 6533 0 7 FLJ43663 IS35701,MS11105,MS18375,MS19414,MS19630,MS22322,MS22353 dgv2137e1 7 130372296 130521398 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2505,essv4499,esv195 M 271 0 0 FLJ43663,MKLN1 NA18552,NA19003 nsv366176 7 130400672 130405244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384754 M 24 FLJ43663 esv2539523 7 130545383 130546314 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161592 S 1 1 0 MKLN1 NA18507 esv259682 7 130559348 130559725 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399017,essv2396718,essv2398496,essv2400907,essv2396228,essv2399946,essv2397966,essv2399599,essv2397646,essv2396492,essv2397456,essv2396616,essv2394917,essv2396323,essv2395529,essv2395042,essv2397854,essv2396869,essv2398936,essv2398986,essv2400157,essv2399152,essv2398443,essv2395824,essv2399639 M 144 0 0 Samples from several populations that are part of the HapMap project. MKLN1 NA10851,NA11831,NA11894,NA11993,NA12006,NA12156,NA12751,NA12761,NA18502,NA18517,NA18520,NA18526,NA18545,NA18558,NA18563,NA18571,NA18577,NA18579,NA18603,NA18605,NA18608,NA18609,NA18871,NA18961,NA18964 nsv824306 7 130583368 130584707 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428398 S 31 0 1 MKLN1 AK10 nsv523877 7 130637547 130639875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699719 S 2026 0 1 MKLN1 nsv5951 7 130671019 130715922 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8428 S 9 0 1 MKLN1 NA12156 esv2572412 7 130728708 130732166 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233401 S 1 0 1 MKLN1 NA18507 esv2035982 7 130729105 130731556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4744691 S 1 0 1 MKLN1 NA18507 esv29565 7 130729268 130731344 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10588 S 451 0 2 MKLN1 NA18909,NA19114 nsv831134 7 130790529 130949582 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446501,nssv1446500 M 95 2 0 MKLN1,PODXL esv7269 7 130838949 130839048 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29710 S 1 1 0 PODXL SJK nsv527070 7 130939202 130941334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703449 S 2026 0 1 "" nsv512923 7 130990008 130990250 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625571 S 1 1 0 "" 1 esv2456676 7 131016647 131017081 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257365 S 1 1 0 "" NA18507 nsv889204 7 131025900 131780573 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588423 S 6533 1 0 PLXNA4 IS38193 esv2457194 7 131044317 131047870 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374160 S 1 0 1 "" NA18507 esv1919320 7 131044696 131047267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749501 S 1 0 1 "" NA18507 esv25036 7 131044891 131047089 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19826 S 451 0 3 "" NA18511,NA18861,NA18909 nsv7406 7 131085439 131128798 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv684 S 9 0 0 "" NA19240 nsv889205 7 131093695 131155656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577891 S 6533 0 1 "" IS34599 nsv5952 7 131099869 131131455 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3579 S 9 1 0 "" NA12878 nsv522617 7 131110140 131122553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706013 S 2026 0 1 "" nsv5953 7 131141241 131186202 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8429 S 9 0 1 "" NA12156 esv21688 7 131210987 131213087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13540 S 451 0 1 "" NA11993 nsv525004 7 131279241 131282848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701038 S 2026 0 1 "" nsv464723 7 131282848 131355684 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540582 S 1557 0 1 "" 1798860372_A nsv519690 7 131329830 131365203 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696994 S 2026 0 1 "" nsv824307 7 131353740 131355133 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432966,nssv1427631,nssv1429171,nssv1425858,nssv1432154 M 31 0 5 "" AK12,AK20,AK4,NA18947,NA18972 nsv512924 7 131357564 131357825 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625572 S 1 1 0 "" 1 nsv831135 7 131359614 131572403 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446504,nssv1446503,nssv1446502 M 95 0 3 PLXNA4 nsv523063 7 131378055 131385686 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698749 S 2026 1 0 "" esv2611766 7 131408646 131409220 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314853 S 1 1 0 "" NA18507 nsv512925 7 131408841 131408919 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625573 S 1 1 0 "" 1 esv25271 7 131425039 131431154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15499 S 451 0 1 "" NA12749 nsv517080 7 131426287 131430795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668144,nssv688671,nssv694044,nssv655459,nssv674940,nssv653754 M 2026 0 6 "" nsv442069 7 131428987 131430799 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv831136 7 131445541 131632365 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446505 S 95 0 1 PLXNA4 esv996570 7 131467680 131467744 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570900 S 3 0 1 PLXNA4 HuRef esv271610 7 131501628 131501972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514690,essv2517391,essv2517040,essv2518707,essv2514734,essv2515499,essv2515010,essv2516536,essv2518003,essv2515889,essv2514359,essv2517857,essv2517310,essv2519482,essv2513659 M 157 15 0 Samples from several populations that are part of the HapMap project. PLXNA4 NA07346,NA07347,NA11840,NA11918,NA11931,NA12045,NA12234,NA12249,NA12812,NA12814,NA12872,NA12873,NA12874,NA12878,NA18970 esv272272 7 131501628 131501972 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581355 S 7 1 0 Samples from several populations that are part of the HapMap project. PLXNA4 NA12878 nsv526514 7 131513250 131515632 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702824 S 2026 0 1 PLXNA4 nsv464724 7 131515632 131529802 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540583 S 1557 0 1 PLXNA4 1798860306_A nsv522425 7 131530205 131532160 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705778 S 2026 1 0 PLXNA4 nsv525647 7 131530205 131532160 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701801 S 2026 0 1 PLXNA4 nsv831138 7 131568004 131719155 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446507 S 95 1 0 PLXNA4 nsv889206 7 131653293 131715919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500991 S 6533 1 0 PLXNA4 SP50695 nsv889207 7 131754522 131822899 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501721 S 6533 1 0 PLXNA4 SP50695 nsv831139 7 131759989 131930759 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446508 S 95 0 1 PLXNA4 nsv889208 7 131851408 132023744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501208 S 6533 1 0 PLXNA4 SP50695 nsv831140 7 131890774 131993922 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446509 S 95 0 1 PLXNA4 nsv526523 7 131894386 131904650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702835 S 2026 0 1 PLXNA4 nsv831141 7 131895577 132055062 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446510 S 95 0 1 PLXNA4 nsv820471 7 131923530 131924025 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420699 S 1 0 1 PLXNA4 NA10851 nsv824308 7 131923530 131924025 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433750,nssv1439762 M 31 0 2 PLXNA4 NA18526,NA18537 nsv507418 7 131935206 131941206 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620394 S 4 1 0 PLXNA4 NA15510 esv2462922 7 131942864 131943875 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345461 S 1 1 0 PLXNA4 NA18507 dgv2138e1 7 131972230 132195023 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5325,esv61,essv2088 M 271 0 0 CHCHD3,PLXNA4 NA18563,NA18949 nsv889209 7 132030184 132369916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501124 S 6533 1 0 CHCHD3 SP50695 esv1465275 7 132033499 132033499 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246727 S 2 1 0 "" HuRef esv1009261 7 132058482 132064802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565402 S 3 0 1 "" HuRef esv2250745 7 132095676 132096109 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4805764 S 1 0 1 "" NA18507 dgv7493n71 7 132105787 132253843 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889211,nsv889210 M 6533 4 0 CHCHD3 MS13867,MS22962,MS24873,MS25814 nsv889212 7 132125984 132180770 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534877 S 6533 1 0 CHCHD3 MS11753 nsv889213 7 132142244 132203858 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559271 S 6533 1 0 CHCHD3 MS23805 nsv831142 7 132161246 132265410 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446511 S 95 1 0 CHCHD3 nsv507419 7 132171446 132177446 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621891,nssv617749,nssv620395 M 4 3 0 CHCHD3 CHM,NA10860,NA15510 nsv525206 7 132184203 132218795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701288 S 2026 0 1 CHCHD3 nsv515919 7 132218795 132280586 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665312,nssv681674 M 2026 2 0 CHCHD3 nsv7407 7 132235805 132275826 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3580 S 9 0 0 CHCHD3 NA12878 nsv511991 7 132319320 132321986 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624536 S 1 0 1 CHCHD3 1 esv1285918 7 132320302 132321183 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911314 S 2 0 1 CHCHD3 HuRef nsv889214 7 132409202 132564427 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501389 S 6533 1 0 CHCHD3 SP50695 nsv889215 7 132464474 132588737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558389 S 6533 0 1 EXOC4 MS23257 esv2324052 7 132486537 132486989 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545633 S 1 0 1 "" NA18507 nsv889216 7 132531540 133584737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555006 S 6533 1 0 EXOC4,LRGUK MS21136 nsv528226 7 132555609 132558191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704788 S 2026 0 1 "" nsv507420 7 132555753 132561753 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623017,nssv621892 M 4 2 0 "" NA10860,NA18994 nsv889217 7 132606722 132706143 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502123 S 6533 1 0 EXOC4 SP50695 nsv5955 7 132647456 132659075 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8430 S 9 0 1 EXOC4 NA12156 nsv5956 7 132668001 132700713 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1684 S 9 1 0 EXOC4 NA18555 nsv464725 7 132753588 132875949 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540584 S 1557 0 1 EXOC4 NINDS_229 esv2491664 7 132757387 132759006 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392772 S 1 0 1 EXOC4 NA18507 esv2244756 7 132758023 132758746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662719 S 1 0 1 EXOC4 NA18507 esv5070 7 132758036 132758677 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27511 S 1 0 1 Single Asian sample YH EXOC4 YH esv1009705 7 132758102 132758900 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563933 S 3 0 1 EXOC4 HuRef esv999690 7 132758213 132758544 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566927 S 3 0 1 EXOC4 HuRef dgv237n6 7 132758213 132758562 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv366188,nsv366398 M 24 EXOC4 esv1081495 7 132758230 132758562 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335565 S 2 0 1 EXOC4 HuRef esv9349 7 132758232 132758547 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31790 S 1 0 1 EXOC4 SJK nsv528972 7 132851357 132911365 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705671 S 2026 0 1 EXOC4 nsv889218 7 132927323 133038596 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562116 S 6533 0 1 EXOC4 MS25377 nsv831143 7 132945451 133112473 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446512 S 95 1 0 EXOC4 esv2567326 7 132951509 132952955 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294830 S 1 0 1 EXOC4 NA18507 nsv525065 7 132973237 132996066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701117 S 2026 0 1 EXOC4 nsv889219 7 133041050 133222337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528767 S 6533 0 1 EXOC4 SP81356 nsv470393 7 133059943 133416173 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546242 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EXOC4 HGDP00465 esv2121190 7 133188452 133188875 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869948 S 1 0 1 EXOC4 NA18507 esv1010219 7 133190377 133190386 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578615 S 3 1 0 EXOC4 HuRef nsv366574 7 133192405 133192659 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385152 M 24 EXOC4 nsv831144 7 133194543 133368215 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446513 S 95 0 1 EXOC4 esv2473150 7 133231353 133232449 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207340 S 1 1 0 EXOC4 NA18507 esv1677306 7 133232137 133232137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327265 S 2 1 0 EXOC4 HuRef esv271075 7 133243307 133243392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514880 S 157 1 0 Samples from several populations that are part of the HapMap project. EXOC4 NA12234 dgv2139e1 7 133287725 133474337 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv850,essv8881,essv8480,essv21857,essv20582,essv4399,essv16986,essv574,essv5582,essv12235,essv10571,essv9991,essv10118,essv7536,essv12842,essv13618,essv15070,essv15781,essv12308,essv12532,essv14539,essv3021,essv15628,essv15839,essv11219,essv11532,esv325,essv20893,essv9073,essv13937,essv23089,essv16680,essv15351,essv8088,essv14794,essv22815,essv15228,essv486,essv16041,essv17577,essv24840,essv1090,essv19445,essv10281 M 271 0 0 EXOC4,LRGUK NA07000,NA07056,NA11839,NA11840,NA12004,NA12762,NA12801,NA12812,NA18501,NA18506,NA18508,NA18516,NA18529,NA18545,NA18573,NA18854,NA18862,NA18912,NA18952,NA18964,NA18981,NA18998,NA19000,NA19094,NA19098,NA19099,NA19101,NA19120,NA19127,NA19129,NA19130,NA19131,NA19132,NA19138,NA19142,NA19144,NA19159,NA19173,NA19202,NA19204,NA19206,NA19223,NA19240 nsv428186 7 133294909 133504988 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451296,nssv451295,nssv451294 M 62 3 0 EXOC4,LRGUK HGDP00450,NA19113,NA19181 nsv889220 7 133356447 133397304 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568585 S 6533 1 0 EXOC4 IS31306 nsv521054 7 133390804 133501403 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697758 S 2026 0 1 EXOC4,LRGUK dgv135n17 7 133424342 133453346 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437575,nsv437574,nsv437573 M 60 0 3 "" NA19139,NA19161,NA19211 nsv5957 7 133425543 133467665 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6169 S 9 0 1 LRGUK NA12156 nsv436539 7 133433469 133448898 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466414 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv32753 7 133433727 133453922 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98723,essv98811,essv97468,essv93951,essv100725,essv96871,essv100923,essv94648,essv93979,essv95467,essv93074,essv95322,essv101662,essv94616,essv98962,essv96237,essv96609,essv98530,essv99873,essv96045,essv93511,essv99616,essv94908,essv98063,essv96472,essv99153,essv97630,essv100239,essv96335,essv94286 M 51 0 29 "" 21606,21616,21634,21656,21659,21693,21791,21802,21847,21863,21872,21909,21932,21938,22007,22011,22085,22086,22127,22128,22217,22231,22259,22261,22275,22278,22286,22371,22394 nsv8215 7 133434067 133454218 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18222,nssv16859,nssv16010,nssv19680,nssv16297,nssv16443,nssv16473,nssv17281,nssv15836,nssv19184,nssv14929,nssv16327,nssv16889,nssv18893,nssv16648,nssv15534,nssv16678,nssv15812,nssv15292,nssv15866,nssv16638,nssv19154,nssv18621,nssv15797,nssv16608,nssv16275,nssv15842,nssv15335,nssv17311,nssv16075,nssv16156,nssv15130,nssv18417 M 31 24 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA11830,NA12802,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820021 7 133434170 133451074 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418665 S 2 1 0 "" AK1 esv992797 7 133434768 133448909 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563475 S 3 0 1 "" HuRef nsv821289 7 133435511 133448555 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420700 S 1 0 1 "" NA10851 esv9645 7 133435526 133448885 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32086 S 1 0 1 "" SJK nsv499702 7 133435540 133448873 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586048 S 9 0 1 "" esv23508 7 133435541 133448555 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9957 S 451 36 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv824310 7 133435616 133448477 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434503,nssv1437527,nssv1421810,nssv1430676,nssv1432967,nssv1427644,nssv1427230,nssv1428399,nssv1424314,nssv1431421,nssv1435191,nssv1435949 M 31 0 12 "" AK10,AK16,AK18,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18968,NA18972,NA18997 esv2421709 7 133435717 133449737 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5133018,essv5127971,essv5158037,essv5117430,essv5058838,essv5128319,essv5072243,essv5153038,essv5033437,essv5137883,essv5101959,essv5124643,essv5020512,essv5014321,essv5148423,essv5161222,essv5099768,essv5064362,essv5042619,essv5118652,essv5072692,essv5040104,essv5097224,essv5152347,essv5127615,essv5109543,essv5032591,essv5105457,essv5130952,essv5076361,essv5060938,essv5011512,essv5064889,essv5020284,essv5053795,essv5010292,essv5038602,essv5069624,essv5015398,essv5089251,essv5071005,essv5061712,essv5021569,essv5046352,essv5156236,essv5056052,essv5046966,essv5072278,essv5144356,essv5146273,essv5152589,essv5072752,essv5107817,essv5050426,essv5150533,essv5107943,essv5025237,essv5091759,essv5155897,essv5076847,essv5068684,essv5064138,essv5056985,essv5046570,essv5032538,essv5109559,essv5002800,essv5094298,essv5005745,essv5104996,essv5115639,essv5006562,essv5067396,essv5075445,essv5002517,essv5151433,essv5125409,essv5010710,essv5125780,essv5086583,essv5057558,essv5069751,essv5111381,essv5037540,essv5016188,essv5052411,essv5120334,essv5137119,essv5031219,essv5033158,essv5124277,essv5122458,essv5029022,essv5025638,essv5087966,essv5085379,essv5070989,essv5041882,essv5035954,essv5053545,essv5083990,essv5064313,essv5070095,essv5141487,essv5085403,essv5053227,essv5063157,essv5148460,essv5016312,essv5085932,essv5112146,essv5154148,essv5016706,essv5093960,essv5057365,essv5083416,essv5003476,essv5070600,essv5011624,essv5051022,essv5002557,essv5007141,essv5046310,essv5117913,essv5058000,essv5025001,essv5039369,essv5100969,essv5059176,essv5139581,essv5056455,essv5156686,essv5040695,essv5112554,essv5033548,essv5137123,essv5074933,essv5053437,essv5031451,essv5154172,essv5109786,essv5035357,essv5031575,essv5146234,essv5133224,essv5115875,essv5085481,essv5043107,essv5027011,essv5061734,essv5078737,essv5052897,essv5017739,essv5010119,essv5160592,essv5020049,essv5082089,essv5057151,essv5021246,essv5095114,essv5111593,essv5047230,essv5053479,essv5057895,essv5009701,essv5016527,essv5144140,essv5048808,essv5137293,essv5042526,essv5111111,essv5014928,essv5010578,essv5099809,essv5141533,essv5010703,essv5054837,essv5089173,essv5012502,essv5055853,essv5002134,essv5153428,essv5014703,essv5104771,essv5072666,essv5062704,essv5059192,essv5015700,essv5083407,essv5019005,essv5052180,essv5086433,essv5074135,essv5151651,essv5025133,essv5050818,essv5012916,essv5025868,essv5147625,essv5086301,essv5037888,essv5158649,essv5042525,essv5132352,essv5095833,essv5080877,essv5008652,essv5041643,essv5048506,essv5135205,essv5120867,essv5107011,essv5105003,essv5111320,essv5029638,essv5006484,essv5087921,essv5148653,essv5025542,essv5120443,essv5061112,essv5099430,essv5138537,essv5038742,essv5010362,essv5029897,essv5110673,essv5122773,essv5030540,essv5067762,essv5032212,essv5045451,essv5074495,essv5130378,essv5105158,essv5153851,essv5148835,essv5143306,essv5114722,essv5146758,essv5049312,essv5045665,essv5115839,essv5096981,essv5128207,essv5025763,essv5127729,essv5036800,essv5110741,essv5124581,essv5133054,essv5004217,essv5025923,essv5101753,essv5056447,essv5129964,essv5154621,essv5123517,essv5071359,essv5147075,essv5049403,essv5106260,essv5136886,essv5064649,essv5148525,essv5127667,essv5114587,essv5100561,essv5121067,essv5118061,essv5028489,essv5105624,essv5020275,essv5092255,essv5125826,essv5132327,essv5075171,essv5101925,essv5040486,essv5118514,essv5157137,essv5135857,essv5140531,essv5154340,essv5100617,essv5078848,essv5154159,essv5026960,essv5005104,essv5031765,essv5011362,essv5021000,essv5131016,essv5025207,essv5058750,essv5021074,essv5033706,essv5005393,essv5144761,essv5085669,essv5153720,essv5083953,essv5022392,essv5094541,essv5068649,essv5105271,essv5118800,essv5050811,essv5139492,essv5056920,essv5069658,essv5070626,essv5075561,essv5105362,essv5024602,essv5143994,essv5124402,essv5036408,essv5002967,essv5118216,essv5064373,essv5111020,essv5128318,essv5127657,essv5013433,essv5022744,essv5135523,essv5121508,essv5079179,essv5031740,essv5087818,essv5094783,essv5067863,essv5026436,essv5043018,essv5009735,essv5114904,essv5118132,essv5065763,essv5114173,essv5057978,essv5038666,essv5132576,essv5136696,essv5136388,essv5062477,essv5113876,essv5034905,essv5041739,essv5026663,essv5137813,essv5158249,essv5138395,essv5014441,essv5074788,essv5004599,essv5029098,essv5054228,essv5133060,essv5104935,essv5014556,essv5063400,essv5081521,essv5014388,essv5060159,essv5096342,essv5012648,essv5042783,essv5152846,essv5008204,essv5120093,essv5122937,essv5050514,essv5089162,essv5117815,essv5119680,essv5040157,essv5047241,essv5032234,essv5042051,essv5030959,essv5056793,essv5022671,essv5089795,essv5143058,essv5082985,essv5040563,essv5040754,essv5092276,essv5001970,essv5039857,essv5023970,essv5002752,essv5135172,essv5120911,essv5106743,essv5146094,essv5119612,essv5071616,essv5144806,essv5097859,essv5008194,essv5015420,essv5080462,essv5128049,essv5137991,essv5063178,essv5085886,essv5146225,essv5144252,essv5072180,essv5090262,essv5135504,essv5020672,essv5152318,essv5098470,essv5033933,essv5010034,essv5011684,essv5086536,essv5121085,essv5127989,essv5010361,essv5134186,essv5125809,essv5037989,essv5079432,essv5158186,essv5015412,essv5138410,essv5073958,essv5070615,essv5014543,essv5155208,essv5099780,essv5027827,essv5049698,essv5110465,essv5017177,essv5088750,essv5131922,essv5093606,essv5048386,essv5100003,essv5043350,essv5156326,essv5074971,essv5080766,essv5073943,essv5088872,essv5114459,essv5086912,essv5038042,essv5085068,essv5068660,essv5154682,essv5082593,essv5052168,essv5121580,essv5003536,essv5120586,essv5065560,essv5034048,essv5151590,essv5019205,essv5075645,essv5042543,essv5032803,essv5053403,essv5159196,essv5087558,essv5123522,essv5062515,essv5095143,essv5148253,essv5131204,essv5126216,essv5040908,essv5033094,essv5055525,essv5022229,essv5009230,essv5152111,essv5136306,essv5118097,essv5100944,essv5067924,essv5012720,essv5030355,essv5002962,essv5107220,essv5046799,essv5051347,essv5116507,essv5113061,essv5033143,essv5055603,essv5080390,essv5049365,essv5116581,essv5014949,essv5135754,essv5090553,essv5068004,essv5142304,essv5148847,essv5002476,essv5070428,essv5084199,essv5070291,essv5043712,essv5032443,essv5154196,essv5141544,essv5089746,essv5149391,essv5105494,essv5016284,essv5060349,essv5106084,essv5159344,essv5003878,essv5145728,essv5020270,essv5121122,essv5088231 M 1184 0 526 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06995,NA06997,NA07031,NA07037,NA07051,NA07055,NA07345,NA07346,NA07348,NA07357,NA10830,NA10831,NA10835,NA10836,NA10837,NA10839,NA10840,NA10846,NA10850,NA10852,NA10853,NA10855,NA10856,NA10861,NA10863,NA10865,NA11829,NA11831,NA11843,NA11881,NA11882,NA11891,NA11892,NA11917,NA11930,NA11931,NA11992,NA11993,NA11995,NA12003,NA12005,NA12006,NA12044,NA12045,NA12056,NA12057,NA12145,NA12155,NA12156,NA12234,NA12248,NA12249,NA12264,NA12272,NA12273,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12342,NA12343,NA12347,NA12376,NA12386,NA12399,NA12489,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12763,NA12766,NA12767,NA12775,NA12778,NA12802,NA12813,NA12814,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA17962,NA17970,NA17972,NA17974,NA17975,NA17990,NA17996,NA17999,NA18107,NA18108,NA18117,NA18125,NA18135,NA18140,NA18144,NA18148,NA18149,NA18151,NA18154,NA18156,NA18158,NA18162,NA18166,NA18484,NA18488,NA18503,NA18504,NA18505,NA18509,NA18510,NA18511,NA18518,NA18519,NA18520,NA18532,NA18534,NA18544,NA18546,NA18548,NA18550,NA18557,NA18559,NA18563,NA18566,NA18570,NA18576,NA18577,NA18582,NA18594,NA18596,NA18597,NA18599,NA18603,NA18605,NA18609,NA18611,NA18612,NA18614,NA18615,NA18616,NA18618,NA18619,NA18622,NA18624,NA18626,NA18630,NA18631,NA18633,NA18637,NA18638,NA18643,NA18645,NA18682,NA18702,NA18740,NA18745,NA18749,NA18861,NA18868,NA18869,NA18874,NA18916,NA18924,NA18925,NA18934,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18947,NA18949,NA18954,NA18955,NA18956,NA18960,NA18961,NA18965,NA18966,NA18968,NA18971,NA18976,NA18977,NA18978,NA18987,NA18994,NA19001,NA19002,NA19031,NA19038,NA19041,NA19044,NA19046,NA19055,NA19058,NA19059,NA19067,NA19074,NA19076,NA19078,NA19079,NA19080,NA19081,NA19087,NA19095,NA19097,NA19102,NA19116,NA19128,NA19137,NA19139,NA19143,NA19160,NA19161,NA19171,NA19184,NA19186,NA19189,NA19197,NA19200,NA19209,NA19210,NA19211,NA19221,NA19222,NA19225,NA19226,NA19236,NA19247,NA19249,NA19307,NA19309,NA19310,NA19311,NA19314,NA19315,NA19317,NA19318,NA19319,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19371,NA19372,NA19377,NA19383,NA19390,NA19398,NA19403,NA19429,NA19440,NA19443,NA19444,NA19445,NA19448,NA19462,NA19470,NA19472,NA19473,NA19651,NA19653,NA19654,NA19656,NA19657,NA19658,NA19660,NA19661,NA19664,NA19670,NA19671,NA19681,NA19682,NA19700,NA19703,NA19705,NA19711,NA19716,NA19718,NA19720,NA19722,NA19723,NA19724,NA19747,NA19748,NA19750,NA19751,NA19760,NA19761,NA19770,NA19771,NA19772,NA19773,NA19775,NA19777,NA19778,NA19779,NA19783,NA19784,NA19788,NA19789,NA19790,NA19795,NA19818,NA19900,NA19902,NA19904,NA19914,NA19915,NA19917,NA19982,NA20126,NA20129,NA20279,NA20282,NA20284,NA20288,NA20291,NA20292,NA20301,NA20302,NA20319,NA20336,NA20345,NA20346,NA20357,NA20358,NA20502,NA20504,NA20505,NA20506,NA20508,NA20510,NA20512,NA20515,NA20518,NA20522,NA20527,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20755,NA20756,NA20760,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20774,NA20775,NA20786,NA20787,NA20792,NA20797,NA20800,NA20801,NA20803,NA20805,NA20806,NA20809,NA20812,NA20813,NA20815,NA20816,NA20818,NA20826,NA20849,NA20858,NA20859,NA20861,NA20862,NA20869,NA20873,NA20874,NA20875,NA20879,NA20882,NA20890,NA20892,NA20894,NA20896,NA20897,NA20898,NA20899,NA20900,NA20904,NA20906,NA21090,NA21092,NA21094,NA21097,NA21099,NA21100,NA21103,NA21104,NA21105,NA21106,NA21109,NA21113,NA21115,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21142,NA21144,NA21295,NA21302,NA21303,NA21307,NA21309,NA21316,NA21317,NA21336,NA21352,NA21360,NA21364,NA21367,NA21368,NA21370,NA21371,NA21382,NA21383,NA21384,NA21388,NA21389,NA21390,NA21402,NA21404,NA21405,NA21414,NA21418,NA21423,NA21424,NA21425,NA21434,NA21435,NA21440,NA21451,NA21454,NA21473,NA21485,NA21491,NA21494,NA21510,NA21512,NA21513,NA21514,NA21520,NA21521,NA21522,NA21529,NA21573,NA21577,NA21578,NA21582,NA21596,NA21599,NA21608,NA21611,NA21614,NA21616,NA21617,NA21631,NA21634,NA21636,NA21648,NA21683,NA21685,NA21686,NA21717,NA21718,NA21722,NA21723,NA21739,NA21741,NA21776,NA21826 nsv442150 7 133435735 133449694 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514452 7 133435896 133448328 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627910 S 1414 0 1 "" nsv438006 7 133436439 133446804 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469195,nssv469175,nssv469178,nssv469203,nssv469196,nssv469189,nssv469192,nssv469171,nssv469180,nssv469167,nssv469188,nssv469172,nssv469201,nssv469191,nssv469199,nssv469184,nssv469182,nssv469193,nssv469181,nssv469168,nssv469176,nssv469194,nssv469166,nssv469187,nssv469200,nssv469165,nssv469164,nssv469173,nssv469190,nssv469198,nssv469169,nssv469177,nssv469183,nssv469179,nssv469202,nssv469170 M 269 0 36 Samples from several populations that are part of the HapMap project. "" NA07055,NA07348,NA07357,NA10831,NA10839,NA10851,NA10863,NA11831,NA11995,NA12006,NA12155,NA12234,NA12248,NA12264,NA12707,NA12717,NA12740,NA12763,NA12814,NA12864,NA12872,NA18504,NA18540,NA18593,NA18594,NA18624,NA18940,NA18961,NA18966,NA19119,NA19137,NA19139,NA19160,NA19161,NA19209,NA19211 nsv824311 7 133441968 133443252 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427580,nssv1430677,nssv1429172,nssv1425859,nssv1432155 M 31 5 0 "" AK12,AK16,AK20,AK4,AK8 nsv508483 7 133442703 133474354 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618821 S 4 0 1 LRGUK NA10860 nsv507421 7 133481659 133487659 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623018,nssv617750,nssv621893,nssv620396 M 4 4 0 LRGUK CHM,NA10860,NA15510,NA18994 esv259779 7 133526076 133526346 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399044,essv2395637,essv2394928,essv2398412,essv2397439,essv2397870,essv2396883,essv2396856,essv2400125,essv2400667,essv2398393,essv2395196,essv2394834,essv2399811,essv2396406,essv2394492 M 144 0 0 Samples from several populations that are part of the HapMap project. LRGUK NA10851,NA18501,NA18545,NA18552,NA18566,NA18577,NA18579,NA18638,NA18861,NA18912,NA19093,NA19108,NA19114,NA19129,NA19138,NA19257 nsv831145 7 133550785 133723012 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446514 S 95 1 0 LRGUK,SLC35B4 esv267899 7 133562307 133562425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506005,essv2500957,essv2507277,essv2513481,essv2509149,essv2501527 M 157 6 0 Samples from several populations that are part of the HapMap project. LRGUK NA18523,NA18856,NA18870,NA18907,NA18909,NA19093 esv1003050 7 133694843 133703687 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586720 S 3 1 0 "" HuRef dgv2140e1 7 133710706 133718628 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1189,essv7477 M 271 0 0 "" NA18633 nsv889221 7 133728853 133767173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592025 S 6533 0 1 "" IS39181 esv275306 7 133744962 133753006 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585300,essv2585145 M 1250 1 1 "" nsv889222 7 133767173 133941409 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555007 S 6533 1 0 AKR1B1,AKR1B10,AKR1B15 MS21136 dgv430n21 7 133865943 133904569 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520274,nsv525734 M 2026 0 2 AKR1B10,AKR1B15 esv26694 7 133882073 133884659 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20018 S 451 0 1 AKR1B15 NA19129 esv27674 7 133913295 133956547 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10147,esv13427 M 451 3 0 AKR1B15 NA06985,NA11993,NA12749 nsv5958 7 133958247 133992097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8431 S 9 1 0 BPGM NA12156 esv23370 7 133961096 133962655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20429 S 451 0 2 "" NA18508,NA19240 nsv818554 7 133964944 133975951 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417267 S 112 0 1 "" NA18593 nsv889223 7 133992715 134117992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555008 S 6533 1 0 BPGM,CALD1 MS21136 nsv889224 7 133996083 134102196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549314,nssv1545641,nssv1586451 M 6533 0 3 BPGM IS37817,MS16863,MS18185 esv2541159 7 134000224 134001683 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268958 S 1 0 1 BPGM NA18507 esv2142865 7 134000354 134001153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4921907 S 1 0 1 BPGM NA18507 esv3182 7 134000444 134001046 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25623 S 1 0 1 Single Asian sample YH BPGM YH nsv366336 7 134000540 134000962 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384914 M 24 BPGM esv5725 7 134000579 134000960 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28166 S 1 0 1 BPGM SJK nsv464726 7 134038795 134054281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540585 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00968 esv2512648 7 134046949 134047018 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385699 S 1 0 1 "" NA18507 esv2642978 7 134074599 134075740 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342561 S 1 1 0 "" NA18507 esv270623 7 134075160 134075245 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515967,essv2513823 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12873,NA19143 nsv5959 7 134152485 134175234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3581 S 9 1 0 CALD1 NA12878 esv29739 7 134192760 134193826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10670 S 451 0 1 CALD1 NA19147 nsv521781 7 134212359 134213284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694549 S 2026 0 1 CALD1 esv4039 7 134255512 134255739 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26480 S 1 0 1 Single Asian sample YH CALD1 YH nsv365920 7 134255548 134255636 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384498 M 24 CALD1 nsv516148 7 134281182 134282458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666487,nssv687732 M 2026 0 2 CALD1 nsv527174 7 134288082 134492475 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703569 S 2026 0 1 AGBL3,CALD1,TMEM140 nsv889225 7 134335404 134492475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580107 S 6533 0 1 AGBL3,TMEM140 IS35229 nsv523222 7 134415688 134446526 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698944 S 2026 1 0 AGBL3 nsv527014 7 134484410 134542199 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703389 S 2026 1 0 C7orf49,TMEM140,WDR91 nsv523974 7 134593477 134595790 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699827 S 2026 0 1 STRA8 nsv523110 7 134602995 134603549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698807 S 2026 0 1 "" nsv527175 7 134645656 134684918 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703570 S 2026 1 0 "" esv29990 7 134663671 134707686 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84229 S 2 1 0 CNOT4 HuRef nsv5960 7 134663691 134687772 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8432 S 9 0 1 "" NA12156 nsv464729 7 134667575 134688928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540587 S 1557 0 1 "" NINDS_98 nsv520786 7 134703308 134922810 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697608 S 2026 1 0 CNOT4,NUP205 dgv1135n67 7 134781841 134782611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824312,nsv824313 M 31 0 2 CNOT4 AK16,NA18947 nsv831146 7 134833285 134992381 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446515 S 95 0 1 CNOT4,NUP205 esv2442045 7 134839364 134840903 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169462 S 1 0 1 CNOT4 NA18507 nsv5961 7 134844359 134877915 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv685 S 9 1 0 CNOT4 NA19240 esv267679 7 134875626 134875711 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514238 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv2485767 7 134922917 134926365 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314479 S 1 0 1 NUP205 NA18507 esv2288564 7 134923304 134925842 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4628676 S 1 0 1 NUP205 NA18507 nsv528795 7 135014911 135015066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705466 S 2026 0 1 "" esv1005963 7 135132709 135132792 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580829 S 3 0 1 "" HuRef esv1454783 7 135132715 135132799 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107776 S 2 0 1 "" HuRef dgv7494n71 7 135164661 135271179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889226,nsv889228,nsv889227 M 6533 0 3 LUZP6,MTPN IS34762,IS36640,MS23257 dgv7495n71 7 135197905 135259452 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889229,nsv889233,nsv889232,nsv889231 M 6533 0 5 "" IS34830,IS35605,MS19630,MS21189,MS21325 dgv7496n71 7 135197905 135271179 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889230,nsv889234 M 6533 0 2 LUZP6,MTPN MS14359,MS22093 esv1613065 7 135242668 135242668 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651978 S 2 1 0 "" HuRef nsv824314 7 135279510 135280216 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436748 S 31 0 1 LUZP6,MTPN NA18542 nsv889235 7 135424885 136850232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589353 S 6533 0 1 CHRM2,DGKI,MIR490,PTN IS38342 esv259697 7 135435505 135435783 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396153,essv2399467,essv2394646,essv2399521,essv2396453,essv2398701,essv2397214 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18858,NA18870,NA19137,NA19138,NA19190,NA19225 esv1614031 7 135435657 135435657 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854786 S 2 1 0 "" HuRef esv1003038 7 135435664 135435664 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580562 S 3 1 0 "" HuRef nsv515753 7 135454591 135454783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691340,nssv655618,nssv668481,nssv664679 M 2026 0 4 "" esv2132089 7 135454859 135455237 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617647 S 1 0 1 "" NA18507 nsv889236 7 135535111 135593804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556615 S 6533 0 1 "" MS22104 nsv524143 7 135547466 135555044 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700021 S 2026 0 1 "" nsv510116 7 135554142 135560142 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624050 S 4 0 1 "" NA18994 esv33093 7 135710298 135710888 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100627 S 51 1 0 "" 21656 esv2481525 7 135716182 135717799 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168357 S 1 0 1 "" NA18507 esv273186 7 135717980 135718155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580919,essv2579001,essv2579753 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269962 7 135717981 135718327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565849,essv2523224,essv2535248,essv2554972,essv2530537,essv2530515,essv2551835,essv2538934,essv2524509,essv2539799,essv2565971,essv2563795,essv2559208,essv2567094,essv2566643,essv2574936,essv2548051,essv2571115,essv2545822,essv2574248 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA12004,NA12249,NA12872,NA12873,NA18486,NA18504,NA18519,NA18555,NA18563,NA18572,NA18603,NA18638,NA18947,NA18948,NA19138,NA19210,NA19238,NA19239,NA19240 nsv518439 7 135784805 136102622 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695875 S 2026 1 0 "" nsv366397 7 135825654 135825654 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384975 M 24 "" esv2645030 7 135828833 135829703 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286780 S 1 1 0 "" NA18507 esv273234 7 135829315 135829454 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582769,essv2582845,essv2584172,essv2584493,essv2583789 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892,NA19238,NA19239,NA19240 esv270959 7 135829315 135829461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557872,essv2568312,essv2545693,essv2548577,essv2521885,essv2525246,essv2564160,essv2530545,essv2540116,essv2521006,essv2532115,essv2562635,essv2569454,essv2578812,essv2536917,essv2538865,essv2527051,essv2561368,essv2521991,essv2542138,essv2569015,essv2539500,essv2533853,essv2529925,essv2525672,essv2526634,essv2560559,essv2524233,essv2530332,essv2568670,essv2545078,essv2560504,essv2548100,essv2545971,essv2574507,essv2533320 M 157 36 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10851,NA11995,NA12003,NA12045,NA12144,NA12156,NA12828,NA12873,NA18489,NA18498,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18522,NA18523,NA18571,NA18856,NA18861,NA18912,NA18916,NA18949,NA18980,NA19114,NA19116,NA19129,NA19141,NA19147,NA19172,NA19190,NA19210,NA19239,NA19240 nsv507422 7 135830938 135836938 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617751,nssv621894,nssv623019,nssv620397 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2432200 7 135833722 135834004 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235568 S 1 1 0 "" NA18507 nsv512926 7 135833783 135834021 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625574 S 1 1 0 "" 1 esv1396832 7 135911450 135911450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838537 S 2 1 0 "" HuRef nsv510117 7 135949549 135955549 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622146,nssv621324,nssv618275,nssv624051 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv508484 7 135983789 136035330 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618822 S 4 0 1 "" NA10860 esv273275 7 136020218 136020325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578941 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268728 7 136020229 136020569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540860,essv2526234,essv2542267,essv2536773,essv2543817,essv2570828,essv2556484,essv2568209,essv2545516,essv2548439,essv2553978,essv2552234,essv2520390,essv2564420,essv2553661,essv2532216,essv2569287,essv2537136,essv2527177,essv2561363,essv2551173,essv2568974,essv2539251,essv2534034,essv2525740,essv2575490,essv2575207,essv2560780,essv2524129,essv2568600,essv2545097,essv2545940,essv2535943,essv2537935,essv2549003,essv2554686,essv2547704,essv2525080 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA11831,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA11995,NA12003,NA12045,NA12287,NA12489,NA12716,NA12751,NA12763,NA18505,NA18508,NA18517,NA18522,NA18523,NA18858,NA18861,NA18912,NA18916,NA18980,NA19099,NA19102,NA19116,NA19129,NA19147,NA19172,NA19239 nsv366717 7 136161235 136161235 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385295 M 24 "" esv1537112 7 136203089 136203089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781708 S 2 1 0 "" HuRef nsv831147 7 136233984 136406281 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446516 S 95 1 0 CHRM2,MIR490 nsv528311 7 136301147 136331341 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704889 S 2026 0 1 CHRM2 nsv527148 7 136336411 136337943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703538 S 2026 1 0 CHRM2 nsv889237 7 136365707 136443890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546168 S 6533 0 1 "" MS17114 nsv5962 7 136450615 136476088 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3582 S 9 1 0 "" NA12878 nsv464730 7 136476062 136533465 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540588 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01238 nsv831149 7 136482205 136657008 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446519 S 95 1 0 PTN esv2647340 7 136483986 136485634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304084 S 1 0 1 "" NA18507 esv2284305 7 136484796 136485503 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944214 S 1 0 1 "" NA18507 esv2962 7 136484941 136485419 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25403 S 1 0 1 Single Asian sample YH "" YH esv1009088 7 136484996 136485297 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571815 S 3 0 1 "" HuRef esv6656 7 136485002 136485287 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29097 S 1 0 1 "" SJK esv1775770 7 136485006 136485308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957139 S 2 0 1 "" HuRef esv2563049 7 136501302 136503238 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325990 S 1 0 1 "" NA18507 esv2126350 7 136501966 136502667 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4536711 S 1 0 1 "" NA18507 esv4318 7 136502129 136502527 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26759 S 1 0 1 Single Asian sample YH "" YH esv987781 7 136502155 136502465 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585214 S 3 0 1 "" HuRef esv9074 7 136502157 136502465 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31515 S 1 0 1 "" SJK esv2466512 7 136502157 136502467 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233827 S 1 0 1 "" NA18507 nsv517954 7 136531293 136533465 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695365 S 2026 0 1 "" dgv7497n71 7 136565599 136644553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889238,nsv889239 M 6533 0 2 PTN IS30311,MS18742 esv33947 7 136570553 137618389 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95092,essv96920 M 51 2 0 AKR1D1,CREB3L2,DGKI,LOC100130880,MIR4468,PTN 21721,21817 esv24450 7 136586944 136588181 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20618 S 451 0 1 PTN NA19257 dgv7498n71 7 136622567 136688632 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889241,nsv889240 M 6533 0 5 PTN IS34768,IS35018,MS14359,MS21020,MS25963 nsv524262 7 136639112 136641261 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700159 S 2026 0 1 PTN esv2166281 7 136646854 136647484 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574507 S 1 0 1 PTN NA18507 nsv889242 7 136656348 136731763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554742 S 6533 0 1 DGKI,PTN MS20957 nsv518230 7 136740077 136741009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695660 S 2026 0 1 DGKI esv2224181 7 136783746 136784168 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721954 S 1 0 1 DGKI NA18507 nsv520950 7 136805112 136818524 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686075,nssv678308 M 2026 0 2 DGKI esv1745681 7 136807605 136807605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888923 S 2 1 0 DGKI HuRef nsv366883 7 136859112 136859456 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385461 M 24 DGKI esv270457 7 136944427 136944778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496608,essv2511910,essv2504305,essv2509662,essv2494764,essv2505957,essv2513310,essv2510458,essv2502167 M 157 9 0 Samples from several populations that are part of the HapMap project. DGKI NA18486,NA18499,NA18505,NA18508,NA18519,NA18861,NA18907,NA19172,NA19257 nsv464731 7 137007191 137055321 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540589 S 1557 0 1 DGKI 1780862299_A nsv824315 7 137080222 137081512 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427241 S 31 0 1 DGKI NA18968 nsv511992 7 137103859 137107703 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624537 S 1 0 1 DGKI 1 esv2428797 7 137104660 137106282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241934 S 1 0 1 DGKI NA18507 esv2031397 7 137105706 137106316 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612952 S 1 0 1 DGKI NA18507 esv9134 7 137105808 137106132 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31575 S 1 0 1 DGKI SJK dgv238n6 7 137105812 137106131 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv366151,nsv366233 M 24 DGKI nsv831150 7 137151099 137303348 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446521,nssv1446520 M 95 1 1 CREB3L2,DGKI,LOC100130880 nsv518070 7 137185167 137459379 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695484 S 2026 1 0 AKR1D1,CREB3L2,LOC100130880,MIR4468 nsv5963 7 137212728 137246591 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8434 S 9 1 0 CREB3L2 NA12156 esv28034 7 137223645 137224311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21119 S 451 0 2 CREB3L2 NA11894,NA12004 nsv5964 7 137249991 137266840 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8435 S 9 0 1 CREB3L2 NA12156 esv2595133 7 137256839 137258274 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330606 S 1 0 1 CREB3L2 NA18507 nsv831151 7 137361987 137516011 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446522,nssv1446523 M 95 1 1 AKR1D1,MIR4468 esv34048 7 137374632 137863659 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 AKR1D1,MIR4468,TRIM24 nsv437032 7 137403631 137423831 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466913 S 60 0 1 Samples from several populations that are part of the HapMap project. AKR1D1 NA10857 nsv523950 7 137405683 137407582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699798 S 2026 0 1 "" esv2527075 7 137434522 137435560 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326524 S 1 1 0 AKR1D1 NA18507 nsv524321 7 137497141 137498138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700225 S 2026 0 1 "" esv2627399 7 137512299 137513792 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294872 S 1 0 1 "" NA18507 nsv831152 7 137534851 137683657 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446524 S 95 1 0 "" esv2428012 7 137545716 137546651 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247806 S 1 1 0 "" NA18507 nsv527643 7 137579847 137604959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704114 S 2026 0 1 "" esv28252 7 137582521 137583245 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19951 S 451 0 1 "" NA12006 esv2534901 7 137610289 137611453 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178402 S 1 1 0 "" NA18507 nsv517949 7 137612726 137643509 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695361 S 2026 1 0 "" nsv5967 7 137638779 137666384 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1687 S 9 0 1 "" NA18555 nsv499698 7 137642382 137654637 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586049 S 9 0 1 "" nsv511993 7 137645979 137646960 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624538 S 1 0 1 "" 1 esv26324 7 137646088 137646886 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18767 S 451 0 1 "" NA15510 esv2391963 7 137690385 137690715 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525807 S 1 0 1 "" NA18507 nsv831153 7 137728719 137916188 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446525 S 95 0 1 TRIM24 esv2292840 7 137907549 137907973 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593675 S 1 0 1 TRIM24 NA18507 nsv5968 7 137914600 137949478 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3583 S 9 1 0 SVOPL,TRIM24 NA12878 esv993410 7 137946358 137947852 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563696 S 3 0 1 SVOPL HuRef esv3359 7 137946955 137947817 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25800 S 1 0 1 Single Asian sample YH SVOPL YH esv7121 7 137946984 137947757 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29562 S 1 0 1 SVOPL SJK esv1010083 7 137946986 137947752 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583192 S 3 0 1 SVOPL HuRef nsv512927 7 137947059 137947219 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625575 S 1 1 0 SVOPL 1 esv1471021 7 137950811 137951050 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087979 S 2 0 1 SVOPL HuRef esv6486 7 137950817 137951050 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28927 S 1 0 1 SVOPL SJK esv2543778 7 137954764 137956102 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386721 S 1 0 1 SVOPL NA18507 nsv365934 7 137972744 137972807 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384512 M 24 SVOPL nsv512928 7 137986033 137986118 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625576 S 1 1 0 SVOPL 1 nsv818557 7 138014436 138022222 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417439 S 112 1 0 "" NA18952 esv271563 7 138017591 138017676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514497 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv366522 7 138032578 138034590 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385100 M 24 "" nsv527116 7 138037129 138038319 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703498 S 2026 0 1 "" esv1494986 7 138053328 138053328 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4326857 S 2 1 0 ATP6V0A4 HuRef esv1418023 7 138053434 138053809 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182159 S 2 0 1 ATP6V0A4 HuRef esv1086375 7 138053830 138053982 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3684240 S 2 0 1 ATP6V0A4 HuRef esv8235 7 138080702 138080784 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30676 S 1 1 0 ATP6V0A4 SJK nsv831154 7 138121028 138324653 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446526 S 95 1 0 ATP6V0A4,KIAA1549,TMEM213 nsv366558 7 138125126 138125126 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385136 M 24 ATP6V0A4 esv1054907 7 138125157 138125157 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767660 S 2 1 0 ATP6V0A4 HuRef nsv516706 7 138137076 138145128 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670297,nssv655196,nssv681675,nssv656417 M 2026 0 4 TMEM213 esv273308 7 138154968 138155297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584072,essv2583540 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271336 7 138154970 138155295 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2547426,essv2576218,essv2537380,essv2528504,essv2547087,essv2540098,essv2557341,essv2557248,essv2578566,essv2537090,essv2562987,essv2542881,essv2569134,essv2543487,essv2556057,essv2522402,essv2575026,essv2554685 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA12717,NA12814,NA12878,NA12891,NA12892,NA18489,NA18499,NA18501,NA18510,NA18517,NA18532,NA18550,NA18861,NA18870,NA18956,NA18960,NA19102 esv2611670 7 138255118 138256163 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337663 S 1 1 0 KIAA1549 NA18507 esv259637 7 138255332 138255637 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393834,essv2393654,essv2393981,essv2394289 M 6 0 0 Samples from several populations that are part of the HapMap project. KIAA1549 NA12892,NA19238,NA19239,NA19240 esv259833 7 138255339 138255644 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400232,essv2396091,essv2400329,essv2398492,essv2395765,essv2396223,essv2399357,essv2400760,essv2396930,essv2395642,essv2397649,essv2396605,essv2400639,essv2396507,essv2395026,essv2396103,essv2395692,essv2395106,essv2395528,essv2397187,essv2396867,essv2398827,essv2399009,essv2399435,essv2400083,essv2394703,essv2397917,essv2398213,essv2395339,essv2394881,essv2398337,essv2400970,essv2395183,essv2394866,essv2399765,essv2399504,essv2396366,essv2398004,essv2397249,essv2396010,essv2397039,essv2400480,essv2394477 M 144 0 0 Samples from several populations that are part of the HapMap project. KIAA1549 NA07037,NA07346,NA11881,NA11894,NA12004,NA12006,NA12287,NA12717,NA12892,NA18501,NA18502,NA18507,NA18510,NA18517,NA18519,NA18523,NA18532,NA18550,NA18563,NA18572,NA18579,NA18582,NA18605,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18942,NA19093,NA19099,NA19108,NA19114,NA19129,NA19137,NA19138,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv1717918 7 138255459 138255459 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627215 S 2 1 0 KIAA1549 HuRef nsv5969 7 138256218 138301292 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8436 S 9 0 1 KIAA1549 NA12156 nsv831155 7 138288933 138479472 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446528,nssv1446527,nssv1446530 M 95 0 3 KIAA1549,TTC26,ZC3HAV1,ZC3HAV1L dgv2141e1 7 138384237 138577879 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9446,esv460 M 271 0 0 TTC26,UBN2,ZC3HAV1 NA19208 esv2494461 7 138392169 138393795 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322037 S 1 0 1 ZC3HAV1 NA18507 esv2303577 7 138392620 138393336 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4706615 S 1 0 1 ZC3HAV1 NA18507 esv3022 7 138392733 138393191 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25463 S 1 0 1 Single Asian sample YH ZC3HAV1 YH esv5513 7 138392780 138393130 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27954 S 1 0 1 ZC3HAV1 SJK esv1728101 7 138392822 138393139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768650 S 2 0 1 ZC3HAV1 HuRef esv1644522 7 138436767 138436767 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4233267 S 2 1 0 ZC3HAV1 HuRef esv270223 7 138442115 138442462 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516647,essv2516564,essv2517958,essv2517832 M 157 4 0 Samples from several populations that are part of the HapMap project. ZC3HAV1 NA11881,NA12814,NA12872,NA12878 esv274465 7 138442115 138442462 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581599,essv2581115 M 7 2 0 Samples from several populations that are part of the HapMap project. ZC3HAV1 NA12878,NA19240 nsv517806 7 138445158 138452701 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695210 S 2026 0 1 "" esv2206384 7 138588343 138588766 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4846273 S 1 0 1 UBN2 NA18507 nsv889243 7 138684747 138735335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501496 S 6533 0 1 LUC7L2 SP50725 esv2292861 7 138693565 138693932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4942720 S 1 0 1 "" NA18507 esv2371727 7 138751139 138751564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918737 S 1 0 1 LUC7L2 NA18507 esv2584872 7 138759117 138760660 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207306 S 1 0 1 LOC100129148 NA18507 esv2275505 7 138759947 138760702 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836424 S 1 0 1 LOC100129148 NA18507 esv5284 7 138760071 138760572 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27725 S 1 0 1 Single Asian sample YH LOC100129148 YH nsv526825 7 138777623 138819156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703181 S 2026 0 1 KLRG2 nsv526644 7 138814003 138819156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702970 S 2026 0 1 KLRG2 esv270843 7 138855007 138855342 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504018 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv24293 7 138856590 138860900 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17558 S 451 1 0 CLEC2L NA06985 nsv824316 7 138896867 138897643 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423506 S 31 1 0 HIPK2 NA18999 esv271548 7 139002011 139002096 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513833 S 157 1 0 Samples from several populations that are part of the HapMap project. HIPK2 NA19143 nsv824317 7 139009428 139009973 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421811 S 31 0 1 HIPK2 NA18997 nsv464732 7 139070502 139300725 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540590 S 1557 1 0 HIPK2,TBXAS1 1780854338_A nsv464733 7 139138436 139185687 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540591 S 1557 0 1 TBXAS1 1780854063_A nsv831156 7 139178787 139340795 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446531 S 95 0 1 TBXAS1 nsv889244 7 139225646 139253969 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562794 S 6533 0 1 TBXAS1 MS25750 nsv889245 7 139245698 139303690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581281 S 6533 1 0 TBXAS1 IS35558 nsv365428 7 139297024 139297167 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384006 M 24 TBXAS1 nsv889246 7 139356617 139417849 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581282 S 6533 1 0 PARP12,TBXAS1 IS35558 nsv824318 7 139409683 139410338 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436749 S 31 0 1 PARP12 NA18542 nsv889247 7 139501685 139680100 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554653 S 6533 1 0 JHDM1D,LOC100134229,SLC37A3 MS20872 esv2622729 7 139513410 139514855 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301665 S 1 0 1 JHDM1D NA18507 esv29440 7 139521939 139523482 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18795 S 451 0 1 JHDM1D NA07045 nsv5970 7 139604371 139637514 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8437 S 9 1 0 "" NA12156 nsv520097 7 139615520 139626312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678704,nssv663634,nssv689818,nssv660724,nssv671334 M 2026 0 5 "" nsv519667 7 139615520 139638856 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696982 S 2026 0 1 "" nsv824319 7 139650498 139655647 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439764 S 31 0 1 "" NA18537 nsv442070 7 139650512 139654935 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517812 7 139655801 139656577 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695217 S 2026 1 0 "" nsv522190 7 139712880 139777132 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694965 S 2026 1 0 RAB19,SLC37A3 esv1579138 7 139734044 139734044 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965636 S 2 1 0 SLC37A3 HuRef esv1228695 7 139734098 139734098 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887910 S 2 1 0 SLC37A3 HuRef nsv5971 7 139773798 139805156 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11162 S 9 1 0 MKRN1 NA15510 esv259694 7 139827963 139835759 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398624,essv2400207,essv2400030,essv2398606,essv2399090,essv2400260,essv2395283,essv2400923,essv2399831,essv2396246,essv2400590,essv2400273,essv2397965,essv2399719,essv2395632,essv2397827,essv2396166,essv2395096,essv2398419,essv2400348,essv2398533,essv2399549,essv2396891,essv2400663,essv2399993,essv2396211,essv2395479,essv2400790,essv2400378,essv2398351,essv2396336,essv2398694 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA10847,NA10851,NA11829,NA11918,NA11993,NA11994,NA12006,NA12043,NA12154,NA12751,NA12828,NA18501,NA18505,NA18523,NA18550,NA18552,NA18555,NA18562,NA18570,NA18579,NA18912,NA18940,NA18944,NA18948,NA18952,NA18960,NA19093,NA19138,NA19190 nsv437576 7 139829454 139864139 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467457 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19142 nsv819540 7 139834962 139837066 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419385 S 2 1 0 "" AK1 nsv511994 7 139835211 139837532 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624539 S 1 0 1 "" 1 esv2601487 7 139835552 139837893 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198608 S 1 0 1 "" NA18507 esv1001633 7 139835766 139836210 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587048 S 3 0 1 "" HuRef nsv824321 7 139835766 139836210 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436750,nssv1438247,nssv1429920,nssv1437528,nssv1440840,nssv1430679,nssv1421812,nssv1427582,nssv1427263,nssv1438927,nssv1432968,nssv1433751,nssv1429175,nssv1425075,nssv1440447,nssv1428400,nssv1439765,nssv1426783,nssv1432156,nssv1423509 M 31 13 7 "" AK10,AK12,AK14,AK16,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18564,NA18949,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 nsv820803 7 139835766 139836447 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420701 S 1 0 1 "" NA10851 nsv824322 7 139835766 139836447 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424315,nssv1427668,nssv1433753,nssv1431422 M 31 4 0 "" AK18,NA18582,NA18592,NA18947 esv2422103 7 139839328 139847922 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024833,essv5094920,essv5157844,essv5072220,essv5029246,essv5109461,essv5057010,essv5093208,essv5047965,essv5158675,essv5005363,essv5145126,essv5068246,essv5022425,essv5136244,essv5138011,essv5129435,essv5160971,essv5090800,essv5041391,essv5090182,essv5153888,essv5126442,essv5014707,essv5063705,essv5045718,essv5025847,essv5115751,essv5042653,essv5093238,essv5036836,essv5101047,essv5023845,essv5063783,essv5083185,essv5124526,essv5149807,essv5080216,essv5063394,essv5061251,essv5117988,essv5036398,essv5137997,essv5159980,essv5023259,essv5103569,essv5067316,essv5049175,essv5086440,essv5065915,essv5020019,essv5142154,essv5090339,essv5117501,essv5132864,essv5118456,essv5143840 M 1184 0 57 "" NA18497,NA18498,NA18509,NA18515,NA18516,NA18867,NA18870,NA18909,NA18910,NA18923,NA19044,NA19108,NA19141,NA19142,NA19144,NA19159,NA19172,NA19173,NA19182,NA19183,NA19184,NA19198,NA19206,NA19209,NA19257,NA19258,NA19316,NA19317,NA19327,NA19350,NA19360,NA19383,NA19384,NA19394,NA19429,NA19438,NA19900,NA19982,NA20294,NA20302,NA20342,NA20343,NA21308,NA21311,NA21390,NA21403,NA21404,NA21439,NA21447,NA21453,NA21491,NA21573,NA21574,NA21575,NA21583,NA21632,NA21716 nsv442071 7 139839330 139845481 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8216 7 139839505 139851598 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16919,nssv16708 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19144,NA19173 esv22554 7 139839943 139849968 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13361 S 451 0 2 "" NA18909,NA19108 nsv517608 7 139841932 139847922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662221,nssv656418,nssv652493 M 2026 0 3 "" nsv464735 7 139841932 139880054 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540592 S 1557 1 0 DENND2A 1780862084_A esv992618 7 139842723 139843747 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565387 S 3 1 0 "" HuRef nsv831157 7 139887808 140073345 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446532 S 95 1 0 ADCK2,DENND2A,LOC100134713,NDUFB2 nsv366001 7 139929556 139930488 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384579 M 24 DENND2A nsv831158 7 140038691 140248784 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446533 S 95 0 1 ADCK2,BRAF,LOC100134713,NDUFB2 nsv518139 7 140159130 140268824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695559 S 2026 0 1 BRAF nsv520944 7 140320248 140326153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691814,nssv678131 M 2026 0 2 "" nsv889248 7 140401254 140455674 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581400 S 6533 0 1 LOC100507421 IS35572 nsv831160 7 140655480 140834515 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446534 S 95 0 1 LOC100507421 esv273755 7 140660026 140660352 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584747,essv2583456 M 7 2 0 Samples from several populations that are part of the HapMap project. LOC100507421 NA19239,NA19240 esv271854 7 140660031 140660355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575827,essv2525905,essv2542331,essv2543905,essv2545600,essv2577527,essv2548470,essv2550524,essv2525461,essv2547414,essv2577875,essv2559443,essv2576290,essv2561818,essv2537655,essv2528508,essv2546958,essv2566105,essv2572804,essv2547841,essv2524914 M 157 21 0 Samples from several populations that are part of the HapMap project. LOC100507421 NA07347,NA07357,NA11830,NA11918,NA11919,NA11992,NA12003,NA12043,NA12045,NA12155,NA12156,NA12717,NA12761,NA12776,NA12814,NA12874,NA12878,NA12891,NA12892,NA18572,NA19143 nsv507423 7 140669501 140675501 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623021,nssv617752 M 4 2 0 LOC100507421 CHM,NA18994 esv2435946 7 140682896 140683745 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185690 S 1 1 0 LOC100507421 NA18507 nsv512929 7 140683221 140683448 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625578 S 1 1 0 LOC100507421 1 esv34135 7 140693923 141139367 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 AGK,FLJ40852,KIAA1147,LOC100507421,SSBP1,TAS2R3,TAS2R4,TAS2R5,WEE2 nsv437577 7 140728221 140742516 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467458 S 60 0 1 Samples from several populations that are part of the HapMap project. LOC100507421 NA18857 nsv519080 7 140731983 140735014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696551 S 2026 0 1 LOC100507421 esv2580388 7 140759609 140761110 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345390 S 1 0 1 LOC100507421 NA18507 esv2264887 7 140760146 140760868 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517439 S 1 0 1 LOC100507421 NA18507 esv4171 7 140760265 140760711 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26612 S 1 0 1 Single Asian sample YH LOC100507421 YH esv1753264 7 140760349 140760668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4357321 S 2 0 1 LOC100507421 HuRef esv8962 7 140760349 140760672 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31403 S 1 0 1 LOC100507421 SJK nsv366438 7 140760350 140760668 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385016 M 24 LOC100507421 nsv527529 7 140814472 140817829 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703987 S 2026 0 1 LOC100507421 nsv5972 7 140839317 140853876 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv686 S 9 1 0 "" NA19240 esv268124 7 140960836 140960989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500181,essv2503292,essv2512639,essv2507105,essv2509312,essv2497366,essv2499138,essv2509430,essv2498855,essv2504355 M 157 10 0 Samples from several populations that are part of the HapMap project. AGK NA07347,NA12006,NA18542,NA18577,NA18870,NA18909,NA18959,NA19114,NA19129,NA19138 nsv510118 7 140985687 140991687 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622147 S 4 0 1 AGK NA10860 nsv5973 7 141034752 141051798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv687 S 9 1 0 FLJ40852,KIAA1147 NA19240 esv1532249 7 141078028 141078082 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723481 S 2 0 1 FLJ40852 HuRef nsv831161 7 141193323 141356675 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446535 S 95 0 1 CLEC5A,MGAM,OR9A4,TAS2R38 nsv5974 7 141248788 141289466 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv688 S 9 0 1 CLEC5A,OR9A4 NA19240 nsv499391 7 141266936 141272992 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586050 S 9 0 1 "" nsv366541 7 141266945 141272991 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385119 M 24 "" esv269105 7 141293261 141293846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498794 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19138 nsv524927 7 141319073 141332652 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700940 S 2026 1 0 TAS2R38 dgv831n27 7 141332652 141336135 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464736,nsv464737,nsv464738 M 1557 0 3 "" HGDP00998,HGDP01013,HGDP01019 esv8436 7 141337270 141337320 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30877 S 1 1 0 "" SJK dgv2142e1 7 141356880 141575430 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20278,essv21011,essv20442,essv18633,essv5404,essv24742,essv19410,esv318,essv23939,essv22082,essv2516,essv18157,essv23548,essv19575,essv21527,essv278,essv2073,essv1178,essv20601,essv18307 M 271 0 0 LOC100124692,LOC93432,MGAM NA06991,NA06993,NA07056,NA10830,NA10846,NA11829,NA11840,NA11993,NA12144,NA12154,NA12234,NA12814,NA12864,NA12873,NA18563,NA18949,NA18951,NA18978,NA19003 esv270979 7 141357635 141357862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503284,essv2512291,essv2503755,essv2512796 M 157 4 0 Samples from several populations that are part of the HapMap project. MGAM NA18542,NA18949,NA18960,NA18980 nsv515542 7 141375091 141376216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666307,nssv663864 M 2026 0 2 MGAM nsv8217 7 141386534 141393095 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16506,nssv17109,nssv15827 M 31 0 3 Samples from several populations that are part of the HapMap project. MGAM NA10863,NA12740,NA18563 nsv889249 7 141386546 141423761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589205,nssv1584304 M 6533 0 2 MGAM IS36963,IS38315 nsv464740 7 141386546 141435188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540597 S 1557 0 1 MGAM NINDS_22 nsv824323 7 141387550 141411942 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437529 S 31 0 1 MGAM NA18949 esv25886 7 141388076 141441024 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12997,esv19273,esv15310,esv15878 M 451 1 12 MGAM NA11894,NA11931,NA11993,NA12156,NA12239,NA12414,NA12878,NA18505,NA18523,NA18858,NA19099,NA19108,NA19225 esv1318675 7 141388948 141388948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3791298 S 2 1 0 MGAM HuRef esv1556929 7 141389099 141389284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152222 S 2 0 1 MGAM HuRef dgv7499n71 7 141396785 141433796 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889250,nsv889252 M 6533 3 0 MGAM MS20784,SP50608,SP56845 nsv525756 7 141401664 141410335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701924 S 2026 0 1 MGAM nsv889251 7 141401664 141425903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504573 S 6533 0 1 MGAM SP52604 nsv464741 7 141401664 141435188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540598 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MGAM HGDP00326 dgv832n27 7 141404060 141429438 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464792,nsv464747,nsv464795,nsv464748,nsv464793,nsv464742 M 1557 6 0 MGAM 1782681114_A,HGDP00896,HGDP00976,HGDP01373,NINDS_20,NINDS_268 nsv8218 7 141405173 141444804 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17139,nssv16536,nssv16949,nssv15160,nssv14959,nssv16186,nssv15857,nssv18923,nssv16668 M 31 4 5 Samples from several populations that are part of the HapMap project. MGAM NA10863,NA12740,NA12802,NA18552,NA18563,NA18564,NA18572,NA18972,NA19173 nsv824324 7 141406348 141406892 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427680,nssv1425860 M 31 2 0 MGAM AK4,NA18947 dgv833n27 7 141406463 141435188 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464782,nsv464781,nsv464744,nsv464844,nsv464776,nsv464743,nsv464803,nsv464784,nsv464808,nsv464846,nsv464815 M 1557 11 0 MGAM 1780862080_A,1780862165_A,1780862207_A,1780862227_A,1780862521_A,1782681115_A,1782681274_A,NINDS_27,NINDS_46,NINDS_53,NINDS_83 dgv7500n71 7 141406463 141447476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889254,nsv889253,nsv889255,nsv889263,nsv889257,nsv889262,nsv889261,nsv889260,nsv889265,nsv889266,nsv889267,nsv889256 M 6533 0 352 MGAM IS30133,IS30134,IS30148,IS30265,IS30295,IS30332,IS30388,IS30389,IS30409,IS30466,IS30467,IS30530,IS30542,IS30597,IS30814,IS31021,IS31183,IS31257,IS31294,IS31323,IS32810,IS32822,IS32892,IS32992,IS33027,IS33136,IS33243,IS33262,IS33493,IS33596,IS33691,IS33721,IS33760,IS33774,IS33868,IS33970,IS34051,IS34083,IS34207,IS34383,IS34416,IS34526,IS34543,IS34613,IS34622,IS34630,IS34687,IS34837,IS35073,IS35161,IS35167,IS35219,IS35439,IS35776,IS35903,IS35954,IS36049,IS36098,IS36273,IS36330,IS36438,IS36581,IS36766,IS36820,IS37068,IS37498,IS37550,IS37632,IS37969,IS37992,IS38011,IS38112,IS38122,IS38145,IS38153,IS38166,IS38186,IS38208,IS38269,IS38280,IS38371,IS38379,IS38395,IS38416,IS38457,IS38484,IS38492,IS38494,IS38496,IS38508,IS38554,IS38585,IS38589,IS38603,IS38620,IS38622,IS38669,IS38979,IS39078,IS39333,IS39363,IS39388,IS39414,IS39517,IS39637,IS39642,IS39714,IS39838,IS39991,IS40038,IS40222,IS40227,IS40239,IS40346,IS40361,IS40415,IS40487,IS40660,IS40680,IS40734,IS40735,IS40759,IS40867,IS40872,IS40943,IS41180,IS41703,IS41768,IS41801,IS41825,IS41837,MS10177,MS10183,MS10287,MS10330,MS10351,MS10401,MS10593,MS10626,MS10686,MS10722,MS10739,MS10950,MS11015,MS11064,MS11157,MS11249,MS11333,MS11352,MS11364,MS11497,MS11537,MS11552,MS11558,MS11715,MS11728,MS11886,MS11971,MS12017,MS12055,MS12265,MS12606,MS12656,MS12812,MS12859,MS12946,MS13148,MS13177,MS13423,MS13758,MS13762,MS13866,MS14110,MS14258,MS14260,MS14287,MS14309,MS14324,MS14416,MS14454,MS14502,MS14610,MS14637,MS14658,MS14676,MS14824,MS14849,MS14897,MS14978,MS14984,MS15030,MS15103,MS15145,MS15234,MS15277,MS15365,MS15475,MS15491,MS15541,MS15589,MS15686,MS15777,MS15826,MS16011,MS16023,MS16055,MS16078,MS16152,MS16248,MS16343,MS16385,MS16693,MS16947,MS17223,MS17373,MS17503,MS17677,MS17773,MS17953,MS18003,MS18132,MS18143,MS18182,MS18261,MS18288,MS18311,MS18348,MS18416,MS18451,MS18970,MS19341,MS19365,MS19652,MS19685,MS19756,MS20471,MS20878,MS20891,MS20947,MS21308,MS21420,MS21458,MS21758,MS22207,MS22343,MS22601,MS22787,MS23098,MS23997,MS24056,MS24108,MS24219,MS24405,MS24747,MS24886,MS25021,MS25087,MS25166,MS25306,MS25394,MS25402,MS25526,MS25683,MS25699,MS25782,MS25805,MS25939,MS26030,MS26118,SP50102,SP50629,SP50644,SP51037,SP51043,SP51056,SP51063,SP51123,SP51218,SP51219,SP51254,SP51440,SP51493,SP51506,SP52131,SP52224,SP52416,SP52428,SP52455,SP52559,SP52593,SP52634,SP52908,SP52925,SP53401,SP53724,SP54063,SP54110,SP54227,SP54317,SP54430,SP54509,SP54585,SP54836,SP54861,SP54892,SP55092,SP55200,SP55256,SP55547,SP55551,SP55630,SP55642,SP55649,SP55650,SP55663,SP55677,SP55692,SP55715,SP55729,SP55822,SP55842,SP55852,SP55970,SP56207,SP56223,SP56231,SP56377,SP56533,SP56631,SP56758,SP56903,SP57062,SP57137,SP57306,SP57675,SP57728,SP58047,SP58108,SP58328,SP58382,SP58548,SP80937,SP81015,SP81039,SP81085,SP81099,SP81187,SP81260,SP81431,SP81437,SP81469,SP81560 nsv470395 7 141407266 141441259 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546365,nssv546754,nssv546776,nssv546387,nssv546442,nssv546409,nssv546832,nssv546588,nssv546610,nssv546476,nssv546621,nssv546854,nssv546632,nssv546276,nssv546398,nssv546787,nssv546298,nssv546453,nssv546810,nssv546287,nssv546699,nssv546665,nssv546309,nssv546265,nssv546520,nssv546743,nssv546376,nssv546710,nssv546553,nssv546843,nssv546676,nssv546542,nssv546320,nssv546821,nssv546721,nssv546765,nssv546342,nssv546420,nssv546331,nssv546599,nssv546575,nssv546643,nssv546654,nssv546464,nssv546865,nssv546254,nssv546531,nssv546353,nssv546687,nssv546431,nssv546487,nssv546509,nssv546798,nssv546732,nssv546564,nssv546498 M 443 0 56 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MGAM HGDP00056,HGDP00060,HGDP00066,HGDP00559,HGDP00570,HGDP00571,HGDP00576,HGDP00580,HGDP00587,HGDP00598,HGDP00600,HGDP00602,HGDP00606,HGDP00612,HGDP00620,HGDP00622,HGDP00627,HGDP00630,HGDP00640,HGDP00645,HGDP00647,HGDP00648,HGDP00649,HGDP00677,HGDP00680,HGDP00692,HGDP00697,HGDP00700,HGDP00715,HGDP00722,HGDP00883,HGDP00894,HGDP01180,HGDP01182,HGDP01219,HGDP01220,HGDP01224,HGDP01225,HGDP01228,HGDP01255,HGDP01262,HGDP01263,HGDP01266,HGDP01278,HGDP01282,HGDP01298,HGDP01317,HGDP01323,HGDP01357,HGDP01361,HGDP01362,HGDP01366,HGDP01371,HGDP01386,HGDP01388,HGDP01403 dgv834n27 7 141407267 141429438 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464745,nsv464746,nsv464811,nsv464812,nsv464813,nsv464749 M 1557 0 6 MGAM 1798860010_A,HGDP00530,HGDP00600,HGDP00674,HGDP00758,HGDP00949 nsv818558 7 141407267 141429438 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415849,nssv1415848,nssv1415659,nssv1415660 M 112 3 1 MGAM NA10835,NA11992,NA11993,NA12248 nsv433393 7 141407267 141433796 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463274 S 9 1 0 Samples from several populations that are part of the HapMap project. MGAM NA12156 dgv835n27 7 141407267 141435188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464804,nsv464843,nsv464820,nsv464798,nsv464834,nsv464765,nsv464836,nsv464760,nsv464800,nsv464799,nsv464840,nsv464785,nsv464751,nsv464766,nsv464824,nsv464773,nsv464823,nsv464841,nsv464764,nsv464775,nsv464757,nsv464754,nsv464817,nsv464777,nsv464758,nsv464767,nsv464806,nsv464830,nsv464797,nsv464832,nsv464802,nsv464849,nsv464833,nsv464829,nsv464796,nsv464819,nsv464769,nsv464842,nsv464847,nsv464756,nsv464780,nsv464762,nsv464801,nsv464821,nsv464831,nsv464770,nsv464779,nsv464786,nsv464822,nsv464807,nsv464825,nsv464837,nsv464771,nsv464818,nsv464828,nsv464753,nsv464835,nsv464826,nsv464814,nsv464763,nsv464778,nsv464752,nsv464755,nsv464845,nsv464759,nsv464774,nsv464768,nsv464848 M 1557 0 68 MGAM 1780854326_A,1780854455_A,1780854463_A,1780854496_A,1780862066_A,1780862125_A,1780862175_A,1780862360_A,1780862408_A,1780862487_A,1782681076_A,1782681079_A,1782681091_A,1782681217_A,1798860587_A,HGDP00092,HGDP00110,HGDP00151,HGDP00285,HGDP00315,HGDP00319,HGDP00392,HGDP00397,HGDP00521,HGDP00576,HGDP00580,HGDP00630,HGDP00647,HGDP00648,HGDP00649,HGDP00667,HGDP00692,HGDP00736,HGDP00738,HGDP00782,HGDP00797,HGDP00821,HGDP00881,HGDP00889,HGDP00893,HGDP00903,HGDP00969,HGDP01058,HGDP01065,HGDP01066,HGDP01067,HGDP01098,HGDP01163,HGDP01224,HGDP01232,HGDP01241,HGDP01340,HGDP01346,NINDS_104,NINDS_116,NINDS_129,NINDS_136,NINDS_152,NINDS_198,NINDS_231,NINDS_239,NINDS_38,NINDS_40,NINDS_5,NINDS_60,NINDS_67,NINDS_9,NINDS_92 nsv464790 7 141407267 141441259 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540647 S 1557 1 0 MGAM 1780862002_A dgv836n27 7 141407267 141447476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464809,nsv464851,nsv464788,nsv464789,nsv464787,nsv464810,nsv464791 M 1557 0 7 MGAM HGDP00102,HGDP00402,HGDP00598,HGDP00885,NINDS_225,NINDS_256,NINDS_86 nsv516285 7 141407267 141447476 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668115,nssv690963,nssv661662,nssv691704,nssv670842,nssv687807,nssv677205,nssv661582,nssv668417,nssv684605,nssv692824,nssv659458,nssv692620,nssv689846,nssv688647,nssv688729,nssv659181,nssv681676,nssv661160,nssv689724,nssv657358,nssv663787,nssv687709,nssv690376,nssv678779,nssv652438,nssv652719,nssv682121,nssv657191,nssv655923,nssv660420,nssv668963,nssv655049,nssv669414,nssv652260,nssv664095,nssv681706,nssv669719,nssv656681,nssv678830,nssv666466,nssv656314,nssv679834,nssv661574,nssv660574,nssv682631,nssv688410,nssv662973,nssv655872,nssv653443,nssv691782,nssv670180,nssv684959,nssv667998,nssv662580,nssv684514,nssv663111,nssv680381,nssv656502,nssv662741,nssv662394,nssv690008,nssv686301,nssv661374,nssv682072,nssv683351,nssv672878,nssv677462,nssv683698,nssv671599,nssv693444,nssv656450,nssv691827,nssv674665,nssv656928,nssv653169,nssv692996,nssv669127,nssv657695,nssv659999,nssv655534,nssv685525,nssv674501,nssv667669,nssv673884,nssv675075,nssv664399,nssv684111,nssv655271,nssv676063,nssv655656,nssv687234,nssv662367,nssv693865,nssv671181,nssv680846,nssv672091,nssv658795,nssv660067,nssv687139,nssv667970,nssv659932,nssv690839,nssv684876,nssv671757,nssv688564,nssv659828,nssv675975,nssv670033,nssv687785,nssv655135,nssv683231,nssv691074,nssv683422,nssv664515,nssv687828,nssv652953,nssv657121,nssv676362,nssv681946,nssv661663,nssv692524,nssv669102,nssv652373,nssv674840,nssv679628,nssv670407,nssv652732,nssv682995,nssv665811,nssv672477,nssv667510,nssv688692,nssv683815,nssv655892,nssv693199,nssv690728,nssv655250,nssv682443,nssv674707,nssv681450,nssv693795,nssv692366,nssv675860,nssv660189,nssv701070,nssv705605,nssv664569,nssv677388,nssv692437,nssv669024,nssv680234,nssv680845,nssv652543,nssv682088,nssv684326,nssv678132,nssv652749,nssv652829,nssv682948,nssv663161,nssv663765,nssv653894,nssv676526,nssv678309,nssv669077,nssv666224,nssv677971,nssv690226,nssv668862,nssv674648,nssv661616,nssv673011,nssv690973,nssv678374,nssv661337,nssv674961,nssv669841,nssv691543,nssv665739,nssv688597,nssv672061,nssv679682,nssv653010,nssv655489,nssv663160,nssv668622,nssv662850,nssv660873,nssv660966,nssv676306,nssv685150,nssv651733,nssv655341,nssv674859,nssv665085,nssv685524,nssv652085,nssv688076,nssv660981,nssv694788,nssv669349,nssv686458,nssv669663,nssv688314,nssv673519,nssv652810,nssv659884,nssv703105,nssv679307,nssv656175,nssv688979,nssv651874,nssv679551,nssv678424,nssv667099,nssv683831,nssv669140,nssv672776,nssv690332,nssv658516,nssv678408,nssv657925,nssv667454,nssv679932,nssv686031,nssv652971,nssv657554,nssv664417,nssv662646,nssv675121,nssv666308,nssv676721,nssv667865,nssv672290,nssv677204,nssv677630,nssv654552,nssv665718,nssv693479,nssv668393,nssv676395,nssv670865,nssv685078,nssv655619,nssv690504,nssv683151,nssv690873,nssv690317,nssv679910,nssv695135,nssv669442,nssv691591,nssv677227,nssv688365,nssv670638,nssv675271,nssv653319,nssv670828,nssv656419,nssv663452,nssv652410,nssv685953,nssv681107,nssv666036,nssv693271,nssv677074,nssv654063,nssv690580,nssv693343,nssv653513,nssv688194,nssv652639,nssv664837,nssv683499,nssv655488,nssv653249,nssv654349,nssv679011,nssv676788,nssv678338,nssv669857,nssv687844,nssv678358,nssv677905,nssv665107,nssv680132,nssv669913,nssv670262,nssv689904,nssv689806,nssv671819,nssv685406,nssv686092,nssv683488,nssv654393,nssv665527,nssv652699,nssv693731,nssv673912,nssv651851,nssv689385,nssv682034,nssv694437,nssv675531,nssv681490,nssv670988,nssv686729,nssv685919,nssv657906,nssv651918,nssv686041,nssv688849,nssv663434,nssv689635,nssv668235,nssv660529,nssv674286,nssv665026,nssv683515,nssv659136,nssv676913,nssv674224,nssv689158,nssv668650,nssv678606,nssv692414,nssv679988,nssv668319,nssv670275,nssv656268,nssv675822,nssv663659,nssv691953,nssv660203,nssv653197,nssv678339,nssv681514,nssv691464,nssv661192,nssv671335,nssv692075,nssv677397,nssv657357,nssv689494,nssv666292,nssv673261,nssv663034,nssv654270,nssv689252,nssv703142,nssv688432,nssv672148,nssv691465,nssv662237,nssv664209,nssv668145,nssv661240,nssv701948,nssv686922,nssv673935 M 2026 20 341 MGAM esv33962 7 141408042 141714197 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101539,essv98747,essv98888,essv101223,essv101227,essv100654,essv100809,essv96842,essv96834,essv100935,essv95096,essv95054,essv98338,essv98195,essv94719,essv94122,essv94112,essv101408,essv101303,essv94367,essv94340,essv96948,essv96922,essv97911,essv95574,essv95456,essv93043,essv95295,essv101654,essv101716,essv95799,essv95792,essv94626,essv94628,essv94589,essv98955,essv99131,essv92914,essv92672,essv93657,essv96140,essv96744,essv96691,essv97233,essv97106,essv98637,essv99750,essv99931,essv99885,essv93461,essv93546,essv93369,essv99602,essv99715,essv94885,essv94989,essv95006,essv92643,essv92647,essv99242,essv97623,essv100401,essv100350,essv98380,essv96328,essv96305,essv96417,essv94207 M 51 15 38 LOC100124692,LOC730441,LOC93432,MGAM,MOXD2P,PRSS58 21603,21606,21618,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21863,21872,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22128,22170,22217,22231,22233,22275,22278,22300,22352,22371,22394 nsv5975 7 141409606 141417369 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6170 S 9 1 0 MGAM NA12156 dgv7501n71 7 141410335 141435188 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889258,nsv889259 M 6533 0 7 MGAM IS32697,IS35783,IS36440,IS37210,IS38665,IS38818,SP51499 nsv818559 7 141410335 141435188 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416168,nssv1416169,nssv1415965,nssv1415966 M 112 0 4 MGAM NA12740,NA12750,NA12878,NA12892 nsv889264 7 141410335 141447476 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524237,nssv1539965,nssv1588761,nssv1586386,nssv1599769,nssv1587294,nssv1535271,nssv1528477,nssv1542059,nssv1539560,nssv1529117,nssv1592020,nssv1529810,nssv1597050,nssv1553436,nssv1582459 M 6533 1 15 MGAM IS35963,IS37771,IS38006,IS38241,IS39125,IS40728,IS41786,MS10123,MS12109,MS14361,MS14636,MS15628,MS20037,SP54930,SP81243,SP81454 dgv1136n67 7 141411659 141440955 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824325,nsv824327,nsv824326,nsv824328 M 31 0 11 MGAM AK14,NA18552,NA18564,NA18566,NA18582,NA18949,NA18951,NA18969,NA18973,NA18997,NA18999 nsv820289 7 141411965 141440504 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418713 S 2 0 1 MGAM AK1 esv2421934 7 141412174 141439888 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5078738,essv5121824,essv5017169,essv5045833,essv5129318,essv5048282,essv5092212,essv5065941,essv5105710,essv5095523,essv5091876,essv5005516,essv5113964,essv5131263,essv5117216,essv5107755,essv5051898,essv5062239,essv5008937,essv5043678,essv5109210,essv5062408,essv5089317,essv5090543,essv5108346,essv5084162,essv5144323,essv5061831,essv5156468,essv5127357,essv5114613,essv5099249,essv5085458,essv5143129,essv5051287,essv5017891,essv5026008,essv5087622,essv5143183,essv5145261,essv5007602,essv5147294,essv5108113,essv5033513,essv5074417,essv5094881,essv5095532,essv5017813,essv5115194,essv5029357,essv5029276,essv5114014,essv5104525,essv5027337,essv5064147,essv5073408,essv5100282,essv5038195,essv5054842,essv5078080,essv5099753,essv5057073,essv5097643,essv5150362,essv5041162,essv5151493,essv5070866,essv5020865,essv5099686,essv5111402,essv5137088,essv5091283,essv5057084,essv5028636,essv5056207,essv5055747,essv5121139,essv5125304,essv5153522,essv5128124,essv5070177,essv5004710,essv5149449,essv5149026,essv5117780,essv5055242,essv5101242,essv5098087,essv5058235,essv5013709,essv5011181,essv5082100,essv5025166,essv5032928,essv5111641,essv5134058,essv5021838,essv5139333,essv5126446,essv5029868,essv5093446,essv5146931,essv5118848,essv5016670,essv5120326,essv5020412,essv5060516,essv5063272,essv5049203,essv5147280,essv5016833,essv5030677,essv5005575,essv5002917,essv5068341,essv5066074,essv5107523,essv5059770,essv5075438,essv5138998,essv5106405,essv5032393,essv5029882,essv5012994,essv5076475,essv5031352,essv5087012,essv5058843,essv5080226,essv5007947,essv5105560,essv5154578,essv5048705,essv5144071,essv5040829,essv5097028,essv5107584,essv5123431,essv5018898,essv5121054,essv5031611,essv5159883,essv5014977,essv5083562,essv5142957,essv5012446,essv5071318,essv5005701,essv5150053,essv5052755,essv5145194,essv5144083,essv5012732,essv5048457,essv5041802,essv5145453,essv5060755,essv5110792,essv5027588,essv5141776,essv5149085,essv5160675,essv5156918,essv5157229,essv5044012,essv5090050,essv5020409,essv5148654,essv5089268,essv5074895,essv5044320,essv5041194,essv5109332,essv5052496,essv5135142,essv5075310,essv5086353,essv5158099,essv5060962,essv5100334,essv5148903,essv5065548,essv5043410,essv5082860,essv5049208,essv5089670,essv5152354,essv5072518,essv5149378,essv5040094,essv5044893,essv5111568,essv5096464,essv5139133,essv5091045,essv5078882,essv5157289,essv5116509,essv5045447,essv5152203,essv5089024,essv5033161,essv5035734,essv5026626,essv5099529,essv5053988,essv5096824,essv5071673,essv5032290,essv5080500,essv5052036,essv5101315,essv5048793,essv5155962,essv5053015,essv5099216,essv5111912,essv5155282,essv5078590,essv5140489,essv5033819,essv5093053,essv5125945,essv5040179,essv5146185,essv5087015,essv5025819,essv5142601,essv5135917,essv5121527,essv5078994,essv5046687,essv5069386,essv5092108,essv5108556,essv5034573 M 1184 0 236 MGAM NA06986,NA06991,NA06993,NA06997,NA07022,NA07051,NA07056,NA07349,NA07435,NA10830,NA10840,NA10843,NA10845,NA10846,NA10853,NA10863,NA10864,NA10865,NA11829,NA11840,NA11891,NA11892,NA11893,NA11918,NA11919,NA11931,NA11993,NA12043,NA12144,NA12145,NA12154,NA12234,NA12273,NA12275,NA12282,NA12286,NA12342,NA12344,NA12347,NA12376,NA12413,NA12546,NA12707,NA12716,NA12740,NA12750,NA12761,NA12775,NA12801,NA12812,NA12843,NA12864,NA12873,NA12877,NA12878,NA12890,NA12892,NA17969,NA17972,NA17974,NA17982,NA17986,NA17987,NA17988,NA17989,NA17999,NA18108,NA18109,NA18112,NA18117,NA18122,NA18125,NA18127,NA18131,NA18134,NA18138,NA18146,NA18153,NA18156,NA18157,NA18524,NA18534,NA18536,NA18543,NA18552,NA18563,NA18564,NA18566,NA18576,NA18579,NA18582,NA18596,NA18605,NA18612,NA18613,NA18615,NA18616,NA18619,NA18621,NA18622,NA18623,NA18626,NA18628,NA18631,NA18639,NA18641,NA18647,NA18674,NA18682,NA18745,NA18943,NA18949,NA18951,NA18960,NA18963,NA18967,NA18969,NA18978,NA18991,NA18995,NA18997,NA18999,NA19001,NA19055,NA19056,NA19057,NA19059,NA19064,NA19067,NA19070,NA19080,NA19083,NA19373,NA19374,NA19431,NA19684,NA19711,NA19722,NA19725,NA19727,NA19759,NA19760,NA19774,NA19775,NA19776,NA19778,NA19780,NA19781,NA19782,NA19783,NA19789,NA19790,NA19794,NA19796,NA19818,NA19982,NA19983,NA20317,NA20334,NA20335,NA20341,NA20504,NA20505,NA20508,NA20512,NA20519,NA20524,NA20525,NA20529,NA20535,NA20539,NA20540,NA20588,NA20589,NA20753,NA20757,NA20769,NA20771,NA20772,NA20773,NA20783,NA20785,NA20786,NA20792,NA20795,NA20799,NA20802,NA20803,NA20805,NA20806,NA20807,NA20810,NA20811,NA20812,NA20845,NA20847,NA20851,NA20859,NA20862,NA20869,NA20870,NA20871,NA20872,NA20873,NA20885,NA20890,NA20892,NA20897,NA20902,NA20907,NA21086,NA21097,NA21119,NA21137,NA21316,NA21317,NA21318,NA21320,NA21336,NA21352,NA21357,NA21364,NA21403,NA21414,NA21473,NA21478,NA21480,NA21509,NA21512,NA21514,NA21576,NA21580,NA21597,NA21600,NA21601,NA21741 nsv433239 7 141412174 141439888 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463120 S 9 0 1 Samples from several populations that are part of the HapMap project. MGAM NA12878 esv1780125 7 141414251 141414251 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836821 S 2 1 0 MGAM HuRef nsv514453 7 141416096 141440400 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627911 S 1414 0 0 MGAM nsv442187 7 141416112 141438377 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MGAM dgv837n27 7 141419097 141435188 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv464855,nsv464967,nsv464913,nsv465100,nsv465007,nsv464999,nsv464964,nsv464876,nsv465054,nsv464881,nsv464937,nsv465012,nsv464968,nsv464863,nsv464997,nsv464955,nsv464945,nsv465077,nsv464914,nsv464940,nsv464953,nsv464981,nsv465013,nsv464852,nsv464963,nsv464936,nsv464920,nsv464957,nsv465086,nsv464941,nsv465143,nsv464882,nsv465069,nsv465017,nsv464977,nsv464911,nsv464864,nsv465142,nsv464928,nsv464944,nsv465006,nsv465050,nsv465032,nsv464869,nsv464925,nsv464962,nsv465052,nsv465009,nsv464918,nsv465101,nsv464965,nsv464993,nsv465083,nsv464879,nsv465014,nsv465094,nsv464897,nsv464996,nsv464987,nsv464948,nsv465043,nsv464875,nsv465003,nsv464908,nsv465046,nsv465011,nsv465090,nsv465085,nsv465045,nsv464860,nsv464930,nsv465064,nsv464954,nsv465088,nsv465140,nsv464862,nsv465001,nsv465051,nsv465082,nsv464871,nsv464985,nsv465039,nsv464929,nsv464907,nsv464912,nsv465036,nsv464909,nsv464986,nsv464947,nsv464921,nsv464867,nsv464873,nsv465004,nsv465078,nsv465092,nsv465010,nsv465133,nsv464959,nsv465075,nsv465030,nsv465091,nsv465081,nsv464989,nsv464896,nsv465020,nsv464952,nsv465040,nsv465063,nsv464984,nsv465076,nsv464870,nsv464943,nsv464865,nsv465022,nsv464893,nsv465019,nsv464991,nsv464898,nsv464933,nsv464969,nsv464958,nsv464884,nsv464926,nsv465037,nsv465141,nsv465035,nsv464857,nsv464922,nsv465033,nsv465057,nsv465044,nsv465056,nsv464939,nsv464946,nsv465029,nsv464910,nsv465028,nsv465089,nsv465055,nsv464951,nsv464995,nsv464853,nsv464889,nsv464971,nsv465041,nsv465087,nsv464856,nsv464888,nsv464915,nsv465136,nsv464906,nsv465021,nsv465058,nsv465065,nsv464931,nsv464942,nsv464886,nsv464975,nsv465048,nsv464923,nsv465066,nsv465068,nsv464982,nsv465138,nsv464980,nsv464868,nsv465008,nsv464998,nsv464988,nsv465135,nsv465026,nsv464895,nsv465025,nsv465000,nsv464990,nsv464992,nsv465031,nsv465097,nsv464891,nsv465024,nsv465080,nsv464970,nsv465059,nsv465144,nsv464899,nsv464880,nsv464874,nsv464890,nsv465067,nsv465093,nsv464932,nsv465002,nsv464956,nsv465072,nsv464877,nsv465023,nsv465034,nsv464900,nsv465071,nsv464973,nsv464976,nsv465096,nsv464974,nsv465099,nsv465042,nsv464903,nsv465137,nsv464919,nsv464854,nsv465018,nsv464904,nsv464979,nsv465132,nsv464966,nsv465079,nsv464917,nsv464934,nsv464858,nsv464935,nsv464902,nsv464885,nsv464866,nsv464960,nsv464978,nsv465015,nsv464901,nsv464887,nsv464878,nsv465053,nsv465074,nsv464892,nsv464924,nsv465098,nsv465070,nsv465134,nsv464859,nsv465047 M 1557 0 237 MGAM 1780846004_A,1780854017_A,1780854065_A,1780854101_A,1780854159_A,1780854176_A,1780854184_A,1780854206_A,1780854235_A,1780854257_A,1780854279_A,1780854294_A,1780854299_A,1780854313_A,1780854325_A,1780854327_A,1780854328_A,1780854334_A,1780854336_A,1780854362_A,1780854391_A,1780854401_A,1780854441_A,1780854459_A,1780854481_A,1780854484_A,1780854485_A,1780854522_A,1780854532_A,1780854545_A,1780854573_A,1780862019_A,1780862067_A,1780862076_A,1780862078_A,1780862095_A,1780862123_A,1780862127_A,1780862156_A,1780862162_A,1780862195_A,1780862206_A,1780862246_A,1780862252_A,1780862347_A,1780862355_A,1780862366_A,1780862378_A,1780862386_A,1780862390_A,1780862394_A,1780862399_A,1780862403_A,1780862414_A,1780862452_A,1780862461_A,1780862466_A,1780862520_A,1780862539_A,1780862540_A,1780862577_A,1780862592_A,1780862597_A,1782681087_A,1782681096_A,1782681110_A,1782681116_A,1782681208_A,1782681236_A,1782681263_A,1782681278_A,1782681287_A,1782681294_A,1782681317_A,1782681495_A,1787431198_A,1788485381_A,1798860047_A,1798860166_A,1798860251_A,1798860292_A,1798860552_A,1798860565_A,1798860569_A,HGDP00001,HGDP00007,HGDP00021,HGDP00025,HGDP00037,HGDP00045,HGDP00049,HGDP00058,HGDP00066,HGDP00070,HGDP00082,HGDP00086,HGDP00094,HGDP00096,HGDP00098,HGDP00103,HGDP00127,HGDP00135,HGDP00136,HGDP00155,HGDP00157,HGDP00160,HGDP00189,HGDP00208,HGDP00224,HGDP00258,HGDP00274,HGDP00279,HGDP00288,HGDP00309,HGDP00364,HGDP00376,HGDP00428,HGDP00511,HGDP00512,HGDP00522,HGDP00524,HGDP00531,HGDP00534,HGDP00535,HGDP00537,HGDP00587,HGDP00606,HGDP00612,HGDP00622,HGDP00645,HGDP00666,HGDP00668,HGDP00669,HGDP00677,HGDP00680,HGDP00700,HGDP00715,HGDP00722,HGDP00769,HGDP00775,HGDP00780,HGDP00783,HGDP00813,HGDP00817,HGDP00856,HGDP00879,HGDP00883,HGDP00884,HGDP00886,HGDP00894,HGDP00900,HGDP00901,HGDP00902,HGDP00958,HGDP00966,HGDP01023,HGDP01041,HGDP01044,HGDP01050,HGDP01053,HGDP01059,HGDP01072,HGDP01076,HGDP01078,HGDP01102,HGDP01153,HGDP01166,HGDP01168,HGDP01172,HGDP01181,HGDP01182,HGDP01183,HGDP01195,HGDP01204,HGDP01206,HGDP01227,HGDP01228,HGDP01234,HGDP01239,HGDP01248,HGDP01262,HGDP01263,HGDP01282,HGDP01288,HGDP01289,HGDP01293,HGDP01302,HGDP01310,HGDP01317,HGDP01322,HGDP01323,HGDP01329,HGDP01332,HGDP01336,HGDP01339,HGDP01351,HGDP01361,HGDP01362,HGDP01365,HGDP01366,HGDP01367,HGDP01371,HGDP01379,HGDP01386,HGDP01388,NINDS_112,NINDS_115,NINDS_117,NINDS_119,NINDS_124,NINDS_127,NINDS_130,NINDS_132,NINDS_14,NINDS_146,NINDS_155,NINDS_179,NINDS_19,NINDS_191,NINDS_204,NINDS_220,NINDS_221,NINDS_226,NINDS_242,NINDS_259,NINDS_260,NINDS_3,NINDS_42,NINDS_43,NINDS_48,NINDS_59,NINDS_62,NINDS_76,NINDS_80,NINDS_96,NINDS_97,NINDS_99 nsv818560 7 141419097 141435188 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416828,nssv1416839,nssv1417672,nssv1417360,nssv1415583,nssv1417692,nssv1416071,nssv1417410,nssv1416073,nssv1415582,nssv1417859,nssv1417744,nssv1417226,nssv1417474,nssv1417613,nssv1417848,nssv1417660 M 112 0 17 MGAM NA06991,NA06993,NA10830,NA10857,NA10863,NA12043,NA12154,NA12234,NA12801,NA12812,NA18576,NA18612,NA18951,NA18960,NA18978,NA18999,NA19003 nsv438007 7 141419097 141439888 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469209,nssv469207,nssv469212,nssv469204,nssv469205,nssv469210,nssv469206,nssv469211 M 269 0 4 Samples from several populations that are part of the HapMap project. MGAM NA06993,NA07019,NA07056,NA10846 nsv465105 7 141419097 141441259 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540961 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MGAM HGDP00541 dgv7502n71 7 141419097 141447476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889270,nsv889269,nsv889268 M 6533 0 11 MGAM IS35671,IS35895,IS36269,IS37248,IS37775,IS40737,MS10596,MS10922,MS10941,MS24083,SP81120 dgv838n27 7 141419097 141447476 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465121,nsv465114,nsv465111,nsv465116,nsv465108,nsv465107,nsv465110,nsv465129,nsv465124,nsv465118,nsv465146,nsv465112,nsv465102,nsv465127,nsv465109,nsv465103,nsv465113,nsv465122,nsv465104,nsv465130,nsv465145,nsv465125,nsv465120,nsv465115,nsv465147,nsv465119,nsv465126,nsv465123 M 1557 0 28 MGAM 1780854118_A,1780854260_A,1780854446_A,1780854558_A,1780862040_A,1780862043_A,1780862456_A,1782681247_A,HGDP00060,HGDP00109,HGDP00307,HGDP00519,HGDP00627,HGDP00640,HGDP00747,HGDP00778,HGDP00785,HGDP00799,HGDP00808,HGDP00895,HGDP01101,HGDP01180,HGDP01255,HGDP01266,HGDP01355,NINDS_209,NINDS_210,NINDS_214 nsv465131 7 141419097 142017824 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv540987 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100124692,LOC730441,LOC93432,MGAM,MOXD2P,PRSS58 HGDP01205 nsv5976 7 141424695 141438050 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6171 S 9 1 0 MGAM NA12156 nsv824329 7 141432554 141433245 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427692,nssv1436751 M 31 0 2 MGAM NA18542,NA18947 nsv824330 7 141443999 141445986 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437532 S 31 0 1 MGAM NA18949 esv34021 7 141485961 141528860 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 LOC100124692,LOC93432 esv273499 7 141594220 141594626 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580846 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270345 7 141594232 141594624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513282,essv2497026,essv2512050 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19190,NA19238 nsv831162 7 141622813 141803921 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446536 S 95 1 0 "" nsv470396 7 141661297 142192134 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546887,nssv546909,nssv546876,nssv546898 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTRNR2L6,PRSS1,PRSS2,TRY6 HGDP00542,HGDP00628,HGDP00703,HGDP01298 nsv465148 7 141661297 142193132 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541004 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTRNR2L6,PRSS1,PRSS2,TRY6 HGDP00703 nsv5978 7 141678158 141695688 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3584 S 9 1 0 "" NA12878 nsv5979 7 141682006 141750654 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3585,nssv9728,nssv5022,nssv6172,nssv689,nssv10582,nssv11163,nssv9448,nssv1688 M 9 0 9 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv824332 7 141687791 141722621 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423511,nssv1429922,nssv1437533,nssv1440449,nssv1430682,nssv1435952,nssv1424317,nssv1427583,nssv1438930,nssv1436753,nssv1433764,nssv1434504,nssv1438249,nssv1432157,nssv1441166 M 31 0 15 "" AK14,AK16,AK20,AK8,NA18542,NA18564,NA18566,NA18570,NA18582,NA18592,NA18949,NA18951,NA18969,NA18973,NA18999 nsv8219 7 141688006 141721945 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15220,nssv19274,nssv19214,nssv15352,nssv16503,nssv15947,nssv18553,nssv16335,nssv15887,nssv18493,nssv17199,nssv17169,nssv16216,nssv16563,nssv16276,nssv18477,nssv15322,nssv18681,nssv14989,nssv16566,nssv15872,nssv15382,nssv15250,nssv16365,nssv14681,nssv16533,nssv15917,nssv19244,nssv16246,nssv16828,nssv17341,nssv16738,nssv17371,nssv17198,nssv15190,nssv14711,nssv17401,nssv16305,nssv18523,nssv19710,nssv18507,nssv16798,nssv18651 M 31 6 13 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA12155,NA12740,NA12802,NA12872,NA18504,NA18517,NA18537,NA18552,NA18563,NA18572,NA18860,NA18942,NA19132,NA19144,NA19221,NA19240 dgv175e180 7 141688467 141720176 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990972,esv1010743,esv999602 M 3 1 0 "" HuRef esv25975 7 141688860 141720506 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20513,esv17978,esv19294 M 451 6 15 "" NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12489,NA12749,NA18508,NA18517,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv2509731 7 141692179 141720700 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328049 S 1 0 1 "" NA18507 esv2422147 7 141693581 141720893 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095476,essv5053436,essv5045632,essv5039739,essv5089138,essv5111374,essv5122786,essv5112589,essv5054046,essv5071656,essv5028019,essv5074176,essv5024434,essv5066560,essv5020644,essv5154998,essv5005395,essv5069269,essv5091602,essv5056250,essv5137786,essv5017350,essv5048655,essv5152186,essv5076534,essv5020774,essv5029942,essv5033136,essv5015110,essv5113687,essv5086663,essv5092864,essv5013549,essv5029304,essv5044262,essv5083939,essv5108258,essv5149183,essv5112410,essv5102366,essv5110529,essv5060329,essv5003606,essv5063110,essv5114339,essv5068198,essv5074324,essv5146994,essv5016289,essv5137719,essv5011621,essv5128700,essv5034009,essv5064523,essv5131766,essv5023867,essv5016898,essv5081616,essv5083223,essv5029154,essv5034087,essv5142503,essv5022766,essv5011635,essv5002980,essv5038071,essv5028765,essv5018577,essv5125874,essv5038556,essv5058569,essv5133865,essv5023798,essv5031941,essv5099482,essv5121547,essv5050179,essv5023693,essv5086164,essv5061821,essv5072665,essv5069042,essv5084216,essv5091157,essv5116998,essv5022580,essv5036766,essv5102407,essv5102753,essv5002308,essv5036043,essv5152201,essv5087652,essv5159985,essv5136548,essv5118398,essv5036478,essv5076951,essv5024547,essv5130735,essv5024430,essv5095172,essv5021182,essv5117377,essv5076675,essv5110035,essv5149452,essv5040651,essv5104257,essv5008537,essv5030361,essv5053476,essv5025415,essv5022507,essv5154623,essv5041518,essv5080137,essv5124123,essv5035887,essv5003389,essv5036712,essv5045532,essv5156446,essv5090646,essv5127860,essv5082926,essv5024416,essv5143402,essv5144853,essv5102433,essv5127024,essv5047096,essv5160833,essv5124975,essv5105011,essv5078618,essv5054754,essv5132661,essv5066026,essv5060073,essv5048210,essv5022310,essv5160554,essv5050512,essv5094735,essv5023584,essv5143737,essv5132195,essv5056016,essv5036372,essv5112118,essv5034112,essv5111601,essv5122542,essv5095235,essv5033072,essv5100923,essv5108777,essv5040065,essv5089775,essv5084822,essv5127821,essv5038094,essv5039875,essv5008060,essv5013240,essv5140251,essv5017866,essv5039054,essv5070054,essv5084891,essv5101891,essv5010896,essv5109661,essv5018330,essv5132669,essv5002142,essv5052575,essv5135372,essv5017204,essv5123063,essv5080800,essv5081454,essv5156362,essv5104426,essv5007386,essv5072131,essv5123944,essv5078931,essv5123488,essv5094136,essv5099752,essv5090654,essv5017138,essv5083867,essv5138423,essv5047304,essv5077550,essv5092152,essv5127513,essv5117432,essv5006212,essv5009700,essv5018686,essv5131242,essv5015468,essv5131559,essv5059702,essv5139583,essv5011604,essv5027104,essv5109901,essv5072706,essv5152531,essv5032199,essv5153810,essv5002922,essv5038516,essv5110820,essv5151049,essv5024854,essv5110358,essv5134102,essv5118445,essv5014528,essv5156576,essv5054139,essv5046697,essv5137866,essv5131114,essv5117609,essv5106043,essv5037349,essv5005833,essv5005281,essv5153652,essv5014112,essv5043858,essv5087197,essv5155923,essv5089507,essv5115698,essv5054358,essv5103317,essv5090802,essv5103691,essv5075031,essv5006270,essv5129512,essv5043049,essv5098145,essv5086773,essv5067906,essv5069530,essv5045237,essv5136668,essv5020177,essv5055313,essv5031965,essv5114882,essv5141568,essv5125974,essv5032467,essv5085334,essv5057192,essv5128427,essv5125574,essv5033708,essv5082008,essv5020292,essv5076755,essv5028767,essv5098493,essv5090903,essv5055085,essv5157896,essv5149808,essv5016416,essv5123642,essv5097429,essv5144400,essv5146889,essv5071103,essv5023889,essv5079594,essv5034943,essv5146940,essv5051089,essv5107180,essv5096886,essv5113487,essv5137026,essv5067600,essv5106538,essv5107191,essv5016099,essv5049108,essv5130078,essv5123168,essv5012975,essv5051273,essv5085615,essv5077320,essv5089650,essv5105749,essv5136035,essv5108834,essv5126777,essv5006036,essv5059011,essv5097986,essv5093647,essv5115638,essv5064618,essv5021206,essv5141151,essv5077189,essv5037483,essv5047114,essv5078323,essv5029594,essv5020817,essv5094633,essv5001998,essv5036198,essv5003677,essv5126694,essv5023467,essv5065043,essv5016956,essv5013035,essv5070152,essv5087485,essv5134795,essv5060150,essv5007064,essv5055027,essv5122232,essv5004003,essv5127035,essv5068463,essv5092557,essv5016790,essv5125395,essv5101792,essv5004404,essv5107937,essv5003596,essv5046042,essv5138425,essv5158720,essv5026824,essv5010019,essv5056432,essv5056261,essv5005050,essv5105285,essv5026021,essv5054623,essv5083774,essv5040182,essv5149490,essv5131972,essv5065754,essv5134005,essv5109765,essv5068619,essv5043192,essv5155183,essv5119924,essv5127248,essv5100936,essv5119415,essv5020378,essv5050506,essv5119197,essv5048549,essv5054723,essv5115628,essv5027530,essv5066514,essv5092333,essv5082546,essv5048832,essv5006035,essv5088389,essv5095695,essv5158952,essv5037441,essv5157738,essv5024148,essv5070810,essv5068984,essv5024069,essv5085368,essv5135596,essv5130457,essv5061134,essv5070938,essv5047348,essv5144404,essv5045645,essv5020612,essv5080301,essv5045894,essv5124702,essv5159499,essv5101452,essv5157668,essv5056055,essv5108086,essv5066343,essv5022086,essv5158177,essv5069251,essv5043354,essv5158374,essv5036387,essv5151534,essv5084855,essv5063401,essv5152856,essv5144983,essv5040024,essv5008974,essv5023122,essv5154864,essv5066138,essv5118576,essv5089340,essv5097809,essv5160282,essv5058014,essv5081492,essv5147888,essv5094043,essv5116779,essv5150322,essv5090244,essv5044451,essv5115428,essv5012009,essv5010123,essv5005969,essv5091215,essv5044252,essv5056050,essv5033886,essv5077801,essv5038442,essv5040748,essv5002925,essv5019332,essv5008440,essv5157754,essv5036138,essv5055185,essv5130708,essv5131407,essv5064958,essv5148482,essv5058152,essv5090564,essv5087378,essv5104553,essv5037034,essv5057475,essv5110242,essv5049993,essv5127859,essv5154814,essv5082334,essv5147311,essv5011841,essv5067348,essv5139205,essv5052179,essv5154656,essv5096030,essv5075903,essv5084747,essv5003268,essv5139100,essv5029649,essv5111152,essv5018122,essv5089318,essv5103442,essv5133316,essv5123451,essv5093325,essv5129987,essv5060177,essv5129065,essv5158616,essv5044095,essv5012829,essv5086212,essv5126656,essv5042264,essv5114724,essv5134788,essv5154865,essv5150412,essv5100166,essv5027270,essv5035781,essv5067151,essv5014541,essv5085651,essv5067618,essv5003424,essv5158678,essv5108823,essv5149956,essv5041520,essv5024658,essv5152537,essv5008766,essv5025711,essv5123292,essv5071919,essv5009983,essv5050199,essv5067797,essv5083404,essv5117465,essv5158735,essv5152992,essv5126010,essv5127407,essv5064246,essv5014918,essv5147868,essv5030598,essv5098205,essv5158565,essv5141993,essv5126315,essv5149852,essv5057164,essv5082691,essv5084367,essv5065939,essv5089838,essv5146764,essv5066984,essv5124229,essv5061480,essv5085884,essv5054523,essv5022375,essv5105514,essv5074481,essv5017380,essv5021751,essv5109173,essv5034879,essv5030087,essv5051513,essv5071441,essv5002643,essv5071851,essv5020914,essv5056636,essv5103960,essv5004077,essv5112634,essv5055137,essv5159233,essv5072834,essv5008026,essv5104132,essv5005284,essv5113144,essv5027628,essv5108639,essv5051395,essv5150588,essv5148279,essv5112892,essv5034796,essv5045300,essv5137081,essv5061185,essv5146821,essv5139364,essv5116319,essv5100921,essv5083754,essv5156367,essv5007109,essv5072713,essv5097760,essv5121725,essv5151822,essv5095696,essv5120384,essv5082019,essv5101912,essv5020261,essv5133619,essv5075985,essv5027225,essv5032857,essv5143749,essv5116329,essv5067691,essv5065141,essv5090794,essv5124593,essv5080031,essv5030970,essv5021761,essv5009724,essv5003007,essv5092717,essv5040416,essv5051712,essv5106284,essv5141563,essv5077115,essv5153100,essv5065854,essv5117725,essv5006692,essv5094160,essv5018543,essv5135495,essv5039935,essv5111342,essv5069789,essv5144750,essv5100788,essv5101375,essv5129114,essv5039819,essv5094008,essv5120145,essv5074280,essv5063005,essv5105189,essv5144944,essv5104313,essv5106767,essv5114305,essv5160207,essv5091782,essv5047943,essv5051873,essv5139823,essv5128907,essv5018787,essv5044395,essv5099575,essv5108242,essv5090212,essv5093061,essv5144132,essv5144433,essv5007174,essv5123326,essv5126034,essv5095431,essv5011056,essv5005594,essv5013562,essv5130829,essv5127338,essv5047118 M 1184 189 481 "" NA06986,NA06989,NA06994,NA06995,NA07000,NA07022,NA07029,NA07031,NA07051,NA07055,NA07056,NA07345,NA07349,NA07357,NA07435,NA10835,NA10836,NA10838,NA10843,NA10852,NA10855,NA10863,NA10865,NA11829,NA11832,NA11843,NA11891,NA11892,NA11917,NA11930,NA11931,NA11993,NA11995,NA12044,NA12045,NA12144,NA12145,NA12154,NA12155,NA12156,NA12249,NA12272,NA12275,NA12282,NA12283,NA12335,NA12336,NA12344,NA12347,NA12376,NA12413,NA12489,NA12546,NA12707,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12761,NA12762,NA12763,NA12766,NA12775,NA12777,NA12778,NA12802,NA12812,NA12815,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12843,NA12864,NA12872,NA12889,NA12892,NA17962,NA17965,NA17967,NA17968,NA17972,NA17974,NA17975,NA17980,NA17986,NA17987,NA17989,NA17990,NA17995,NA17997,NA17998,NA17999,NA18101,NA18102,NA18108,NA18114,NA18117,NA18118,NA18122,NA18125,NA18136,NA18140,NA18144,NA18146,NA18148,NA18149,NA18150,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18489,NA18497,NA18498,NA18499,NA18501,NA18504,NA18506,NA18507,NA18508,NA18510,NA18515,NA18516,NA18517,NA18519,NA18524,NA18526,NA18532,NA18534,NA18537,NA18543,NA18544,NA18545,NA18550,NA18552,NA18557,NA18558,NA18561,NA18562,NA18563,NA18572,NA18573,NA18579,NA18593,NA18594,NA18599,NA18603,NA18608,NA18609,NA18610,NA18614,NA18615,NA18617,NA18619,NA18620,NA18621,NA18622,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18633,NA18634,NA18635,NA18637,NA18638,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18682,NA18702,NA18745,NA18748,NA18852,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18867,NA18868,NA18870,NA18871,NA18872,NA18873,NA18875,NA18912,NA18913,NA18914,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18935,NA18939,NA18940,NA18942,NA18944,NA18945,NA18947,NA18953,NA18954,NA18955,NA18956,NA18957,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18973,NA18974,NA18976,NA18977,NA18978,NA18981,NA18987,NA18997,NA18998,NA19000,NA19001,NA19002,NA19027,NA19036,NA19041,NA19044,NA19046,NA19054,NA19057,NA19058,NA19059,NA19060,NA19063,NA19065,NA19067,NA19070,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19095,NA19097,NA19099,NA19102,NA19107,NA19109,NA19113,NA19114,NA19115,NA19116,NA19119,NA19120,NA19121,NA19122,NA19123,NA19128,NA19129,NA19130,NA19132,NA19138,NA19140,NA19142,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19174,NA19178,NA19179,NA19180,NA19181,NA19185,NA19186,NA19190,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19208,NA19210,NA19213,NA19215,NA19221,NA19223,NA19224,NA19225,NA19235,NA19237,NA19239,NA19240,NA19256,NA19258,NA19310,NA19313,NA19314,NA19316,NA19317,NA19327,NA19334,NA19346,NA19347,NA19352,NA19375,NA19376,NA19377,NA19381,NA19383,NA19385,NA19390,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19430,NA19434,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19451,NA19456,NA19457,NA19462,NA19463,NA19466,NA19469,NA19470,NA19471,NA19472,NA19625,NA19649,NA19658,NA19662,NA19663,NA19669,NA19675,NA19676,NA19679,NA19680,NA19683,NA19686,NA19701,NA19702,NA19704,NA19705,NA19713,NA19716,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19726,NA19727,NA19748,NA19749,NA19750,NA19751,NA19755,NA19757,NA19759,NA19762,NA19770,NA19771,NA19773,NA19776,NA19777,NA19778,NA19780,NA19781,NA19782,NA19783,NA19789,NA19794,NA19796,NA19818,NA19819,NA19828,NA19836,NA19901,NA19904,NA19908,NA19916,NA19918,NA19921,NA19985,NA20126,NA20129,NA20279,NA20282,NA20284,NA20287,NA20288,NA20291,NA20292,NA20297,NA20302,NA20319,NA20333,NA20336,NA20340,NA20344,NA20345,NA20349,NA20356,NA20357,NA20360,NA20363,NA20364,NA20504,NA20505,NA20517,NA20518,NA20525,NA20535,NA20538,NA20541,NA20542,NA20543,NA20544,NA20582,NA20588,NA20589,NA20752,NA20754,NA20755,NA20758,NA20760,NA20766,NA20769,NA20771,NA20773,NA20774,NA20775,NA20778,NA20785,NA20786,NA20787,NA20790,NA20795,NA20796,NA20800,NA20802,NA20806,NA20807,NA20808,NA20809,NA20811,NA20812,NA20813,NA20815,NA20818,NA20819,NA20826,NA20845,NA20847,NA20850,NA20851,NA20852,NA20853,NA20858,NA20861,NA20866,NA20869,NA20870,NA20871,NA20872,NA20874,NA20876,NA20877,NA20881,NA20882,NA20884,NA20885,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20902,NA20906,NA20908,NA20909,NA21086,NA21088,NA21089,NA21090,NA21094,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21109,NA21112,NA21116,NA21117,NA21123,NA21125,NA21141,NA21143,NA21144,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21308,NA21309,NA21316,NA21317,NA21352,NA21353,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21371,NA21378,NA21379,NA21383,NA21384,NA21387,NA21391,NA21399,NA21400,NA21402,NA21404,NA21405,NA21415,NA21417,NA21418,NA21424,NA21434,NA21436,NA21438,NA21440,NA21448,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21491,NA21493,NA21509,NA21513,NA21517,NA21521,NA21526,NA21527,NA21574,NA21575,NA21577,NA21578,NA21583,NA21587,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21619,NA21631,NA21634,NA21636,NA21647,NA21650,NA21678,NA21682,NA21683,NA21685,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21723,NA21738,NA21739,NA21740,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442189 7 141693868 141712586 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv14 7 141694967 141750654 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv14 S 1 0 1 "" NA15510 nsv438008 7 141695729 141711704 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469313,nssv469237,nssv469358,nssv469379,nssv469257,nssv469315,nssv469446,nssv469267,nssv469283,nssv469449,nssv469431,nssv469388,nssv469400,nssv469438,nssv469251,nssv469292,nssv469335,nssv469347,nssv469246,nssv469424,nssv469380,nssv469311,nssv469343,nssv469357,nssv469355,nssv469249,nssv469411,nssv469333,nssv469327,nssv469278,nssv469236,nssv469294,nssv469455,nssv469364,nssv469216,nssv469234,nssv469233,nssv469439,nssv469227,nssv469444,nssv469345,nssv469442,nssv469433,nssv469415,nssv469432,nssv469454,nssv469271,nssv469277,nssv469322,nssv469270,nssv469369,nssv469235,nssv469244,nssv469413,nssv469298,nssv469346,nssv469276,nssv469229,nssv469404,nssv469232,nssv469392,nssv469426,nssv469336,nssv469402,nssv469401,nssv469282,nssv469316,nssv469387,nssv469222,nssv469356,nssv469340,nssv469425,nssv469324,nssv469238,nssv469214,nssv469295,nssv469272,nssv469382,nssv469301,nssv469337,nssv469384,nssv469375,nssv469293,nssv469394,nssv469264,nssv469458,nssv469287,nssv469416,nssv469255,nssv469259,nssv469302,nssv469434,nssv469242,nssv469447,nssv469253,nssv469414,nssv469451,nssv469360,nssv469350,nssv469368,nssv469421,nssv469397,nssv469409,nssv469423,nssv469245,nssv469258,nssv469448,nssv469370,nssv469362,nssv469281,nssv469365,nssv469279,nssv469326,nssv469221,nssv469339,nssv469269,nssv469268,nssv469462,nssv469422,nssv469260,nssv469465,nssv469332,nssv469220,nssv469359,nssv469243,nssv469307,nssv469338,nssv469223,nssv469224,nssv469383,nssv469273,nssv469412,nssv469399,nssv469351,nssv469226,nssv469389,nssv469418,nssv469254,nssv469231,nssv469461,nssv469318,nssv469372,nssv469342,nssv469306,nssv469395,nssv469265,nssv469323,nssv469353,nssv469228,nssv469349,nssv469331,nssv469417,nssv469378,nssv469317,nssv469443,nssv469440,nssv469460,nssv469405,nssv469334,nssv469344,nssv469459,nssv469373,nssv469309,nssv469429,nssv469393,nssv469266,nssv469291,nssv469215,nssv469247,nssv469303,nssv469248,nssv469240,nssv469280,nssv469410,nssv469325,nssv469262,nssv469275,nssv469348,nssv469304,nssv469305,nssv469377,nssv469218,nssv469427,nssv469367,nssv469457,nssv469453,nssv469420,nssv469328,nssv469445,nssv469428,nssv469435,nssv469239,nssv469398,nssv469256,nssv469290,nssv469376,nssv469386,nssv469437,nssv469225,nssv469361,nssv469456,nssv469403,nssv469371,nssv469450,nssv469250,nssv469289,nssv469213,nssv469310,nssv469320,nssv469261,nssv469312,nssv469406,nssv469366,nssv469284,nssv469321,nssv469286,nssv469354,nssv469329,nssv469390,nssv469464,nssv469288,nssv469381,nssv469300,nssv469217,nssv469299,nssv469436,nssv469391,nssv469314 M 269 0 118 Samples from several populations that are part of the HapMap project. "" NA07034,NA07048,NA07055,NA07357,NA10838,NA10839,NA10851,NA10855,NA10860,NA11832,NA11992,NA11995,NA12004,NA12006,NA12044,NA12057,NA12144,NA12154,NA12156,NA12761,NA12762,NA12802,NA12815,NA12864,NA12872,NA12892,NA18500,NA18501,NA18504,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18524,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18563,NA18573,NA18579,NA18593,NA18594,NA18603,NA18608,NA18620,NA18621,NA18622,NA18633,NA18635,NA18637,NA18852,NA18854,NA18855,NA18857,NA18858,NA18859,NA18860,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18942,NA18944,NA18945,NA18947,NA18953,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18973,NA18976,NA18978,NA18987,NA18990,NA18992,NA18997,NA18998,NA19000,NA19003,NA19093,NA19099,NA19100,NA19102,NA19116,NA19128,NA19129,NA19130,NA19132,NA19138,NA19143,NA19144,NA19145,NA19153,NA19160,NA19192,NA19194,NA19200,NA19202,NA19203,NA19208,NA19210,NA19223,NA19239,NA19240 nsv499525 7 141695948 141715788 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586051 S 9 0 1 "" nsv508485 7 141698030 141719711 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617353 S 4 0 1 "" CHM nsv820456 7 141698404 141720176 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420703 S 1 0 1 "" NA10851 dgv1137n67 7 141698404 141720289 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824333,nsv824334 M 31 0 14 "" AK12,AK18,AK2,AK4,AK6,NA18526,NA18537,NA18547,NA18552,NA18942,NA18947,NA18968,NA18972,NA18997 nsv514454 7 141698608 141713776 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627912 S 1414 0 1 "" esv33581 7 141705004 141721660 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100682 S 51 1 0 "" 21656 esv32542 7 141725824 141726016 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101622 S 51 0 1 "" 21909 esv33158 7 141726016 141726996 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93954 S 51 0 1 "" 21634 esv2442291 7 141726025 141727769 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385001 S 1 0 1 "" NA18507 esv2169105 7 141726445 141727166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4631691 S 1 0 1 "" NA18507 esv4761 7 141726576 141727065 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27202 S 1 0 1 Single Asian sample YH "" YH esv1003947 7 141726635 141726972 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573844 S 3 0 1 "" HuRef esv9275 7 141726637 141726968 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31716 S 1 0 1 "" SJK esv1746467 7 141726639 141726977 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3676049 S 2 0 1 "" HuRef dgv90n68 7 141803423 142034033 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv831164,nsv831163 M 95 7 0 "" dgv2143e1 7 141803423 142434269 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4571,essv7138,essv6924,esv662 M 271 0 0 C7orf34,EPHB6,KEL,MTRNR2L6,OR9A2,PRSS1,PRSS2,TRPV5,TRPV6,TRY6 NA18524,NA18537,NA18605 esv6631 7 141824121 141843256 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29072 S 1 0 1 "" SJK esv8183 7 141826076 141902877 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30624 S 1 0 1 "" SJK nsv5980 7 141826583 141860333 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8438 S 9 1 0 "" NA12156 esv9179 7 141833538 141870485 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31620 S 1 0 1 "" SJK esv5084 7 141834306 141912336 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27525 S 1 1 0 Single Asian sample YH "" YH dgv431n21 7 141837372 141838625 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526096,nsv520143,nsv526790 M 2026 0 4 "" esv8602 7 141845053 141882582 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31043 S 1 0 1 "" SJK esv7206 7 141863726 141903520 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29647 S 1 0 1 "" SJK nsv508486 7 141873001 141923600 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617354 S 4 0 1 "" CHM esv7303 7 141877173 141896948 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29744 S 1 0 1 "" SJK essv25031 7 141880260 141911661 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12801 nsv889271 7 141888058 141920993 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592967 S 6533 0 1 "" IS39326 nsv8220 7 141890242 141910900 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16395 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv824335 7 141890562 141911078 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439767 S 31 0 1 "" NA18537 nsv442194 7 141891589 141902884 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2318867 7 141893004 141913376 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695740 S 1 0 1 "" NA18507 nsv516985 7 141895565 141904643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690581,nssv661114,nssv686076,nssv692825,nssv668320,nssv660575,nssv661644,nssv659256,nssv675914,nssv691255,nssv676132,nssv687829,nssv657707,nssv693076,nssv679510,nssv652566,nssv651711,nssv653475,nssv656598,nssv688623,nssv684140,nssv689189,nssv654167,nssv670681,nssv684515,nssv680198,nssv670747,nssv657485,nssv687098,nssv666467,nssv660502,nssv662518,nssv662851,nssv683547 M 2026 0 34 "" nsv818561 7 141895565 141904643 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416075,nssv1416074,nssv1417320,nssv1417122 M 112 0 4 "" NA12801,NA12813,NA18537,NA18608 dgv839n27 7 141895565 141908739 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465154,nsv465151,nsv465152,nsv465153,nsv465156,nsv465159,nsv465149,nsv465157,nsv465155,nsv465158 M 1557 0 10 "" HGDP00837,HGDP00857,HGDP00863,HGDP00864,HGDP00995,HGDP00998,HGDP00999,HGDP01013,HGDP01014,HGDP01019 esv2421818 7 141895565 141909210 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5158312,essv5106925,essv5079474,essv5052613,essv5042551,essv5137387,essv5074969,essv5081094,essv5056744,essv5082147,essv5129516,essv5125198,essv5104095,essv5138961,essv5092101,essv5093920,essv5059829,essv5071047,essv5077272,essv5133606,essv5152098,essv5124720,essv5029751,essv5081052,essv5026214,essv5040423,essv5062780,essv5083949,essv5091545,essv5149406,essv5014562,essv5045939,essv5121382,essv5144779,essv5003386,essv5140509,essv5123277,essv5015080,essv5057039,essv5142362,essv5012887,essv5040005,essv5116180,essv5140932,essv5131701,essv5082098,essv5061608,essv5011205,essv5110844,essv5122265,essv5047509,essv5023980,essv5123777,essv5009664,essv5043640,essv5020369,essv5045713,essv5065217,essv5081897,essv5094815,essv5052870,essv5002757,essv5004099,essv5103761,essv5140149,essv5049794,essv5078362,essv5059017 M 1184 0 68 "" NA12801,NA12813,NA17990,NA18108,NA18117,NA18127,NA18151,NA18524,NA18537,NA18546,NA18562,NA18571,NA18605,NA18608,NA18613,NA18616,NA18619,NA18621,NA18643,NA19075,NA19350,NA19650,NA19654,NA19656,NA19658,NA19659,NA19660,NA19662,NA19663,NA19664,NA19670,NA19682,NA19685,NA19686,NA19716,NA19718,NA19722,NA19723,NA19724,NA19726,NA19727,NA19749,NA19750,NA19751,NA19755,NA19757,NA19760,NA19761,NA19762,NA19763,NA19777,NA19780,NA19782,NA19788,NA19795,NA20847,NA20850,NA20866,NA20889,NA20897,NA20904,NA21099,NA21105,NA21115,NA21116,NA21137,NA21142,NA21143 nsv438009 7 141896503 141908580 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469467,nssv469466 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12801,NA12813 essv6085 7 141901402 141904054 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18621 esv22042 7 141905025 141908626 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13675 S 451 0 1 "" NA19114 nsv8221 7 141910900 141928609 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19740 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv526626 7 141918682 141922620 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702947 S 2026 0 1 "" nsv518174 7 141932985 141943232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695595 S 2026 0 1 "" essv19843 7 141932985 142176613 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MTRNR2L6,PRSS1,TRY6 NA12234 nsv465160 7 141943232 142005626 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541016 S 1557 0 1 "" 1798860570_A nsv831165 7 141943447 142112367 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446556,nssv1446545,nssv1446549,nssv1446547,nssv1446557,nssv1446550,nssv1446555,nssv1446553,nssv1446554,nssv1446546,nssv1446548,nssv1446552 M 95 12 0 MTRNR2L6 esv3038 7 141947892 141951193 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25479 S 1 0 1 Single Asian sample YH "" YH esv8293 7 141948059 141951203 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30734 S 1 0 1 "" SJK esv29728 7 141949422 141956968 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19913 S 451 1 0 "" NA11995 esv2543365 7 141950188 141954797 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288691 S 1 0 1 "" NA18507 esv8028 7 141950224 141953589 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30469 S 1 0 1 "" SJK nsv365295 7 141950529 141953850 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383873 M 24 "" nsv8222 7 141952177 141955482 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18953,nssv15977,nssv16979,nssv16698,nssv15365,nssv15902 M 31 0 6 Samples from several populations that are part of the HapMap project. "" NA07029,NA10847,NA18563,NA18564,NA18972,NA19173 dgv7503n71 7 141956243 142009763 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889272,nsv889273 M 6533 0 3 "" IS33493,IS35167,IS40046 nsv818562 7 141956243 142017824 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417683 S 112 0 1 "" NA12234 dgv840n27 7 141969085 142005626 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465166,nsv465162,nsv465165,nsv465164,nsv465163 M 1557 0 5 "" 1780854197_A,1780862019_A,HGDP00974,HGDP01298,NINDS_230 nsv517051 7 141969085 142005626 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674068,nssv653692,nssv667352,nssv658533,nssv664570,nssv684631,nssv678340,nssv672164,nssv654271,nssv692658,nssv675219,nssv685782,nssv670081 M 2026 0 13 "" nsv438010 7 141969773 142004315 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469468,nssv469469,nssv469470,nssv469471 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10846,NA12144 nsv442073 7 141969866 142005164 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv2144e1 7 141971359 142007233 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24217,essv24645 M 271 0 0 "" NA10846,NA12144 nsv5981 7 141984562 142029327 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8439 S 9 0 1 "" NA12156 nsv831166 7 142007198 142166965 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446558,nssv1446560,nssv1446559 M 95 1 2 MTRNR2L6,PRSS1,TRY6 nsv428187 7 142007198 142316809 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451306 S 62 0 1 EPHB6,MTRNR2L6,PRSS1,PRSS2,TRPV5,TRPV6,TRY6 HGDP00449 dgv2145e1 7 142007198 142434269 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3202,essv24694,essv23004,essv542,essv1390,essv7373,essv18606,essv5901,essv21074,essv7156,essv6331,essv1520,essv4089,essv4804,essv4285,essv4410,essv10667,essv6123,essv4683,essv1453,essv1933,essv1997,essv436,essv655,essv5578 M 271 0 0 C7orf34,EPHB6,KEL,MTRNR2L6,OR9A2,PRSS1,PRSS2,TRPV5,TRPV6,TRY6 NA06991,NA11829,NA12234,NA12812,NA18529,NA18532,NA18547,NA18550,NA18573,NA18603,NA18609,NA18620,NA18622,NA18623,NA18635,NA18855,NA18944,NA18949,NA18952,NA18959,NA18974,NA18975,NA18980,NA18998,NA19007 nsv517821 7 142009763 142017824 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695225 S 2026 0 1 "" dgv841n27 7 142014398 142217629 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465167,nsv465171,nsv465168,nsv465174,nsv465169 M 1557 0 5 MTRNR2L6,PRSS1,PRSS2,TRY6 HGDP00542,HGDP00972,HGDP01205,HGDP01287,HGDP01311 essv19150 7 142020380 142211931 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MTRNR2L6,PRSS1,PRSS2,TRY6 NA12812 nsv824336 7 142025841 142203843 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435953 S 31 0 1 MTRNR2L6,PRSS1,PRSS2,TRY6 NA18566 esv34617 7 142030227 142191578 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988077,essv6978967,essv6978968,essv6978969 M 771 0 1 MTRNR2L6,PRSS1,PRSS2,TRY6 NA12812 esv1974441 7 142046766 142047420 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589338 S 1 0 1 "" NA18507 nsv465170 7 142049398 142104463 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541026 S 1557 0 1 MTRNR2L6 1780854009_A nsv8223 7 142052401 142055462 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16858,nssv16357,nssv16007,nssv17009,nssv19800,nssv14801 M 31 0 6 Samples from several populations that are part of the HapMap project. MTRNR2L6 NA11830,NA12872,NA18563,NA19144,NA19173,NA19221 nsv824337 7 142052588 142054868 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425865 S 31 0 1 MTRNR2L6 AK4 nsv818563 7 142074094 142192134 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416076 S 112 0 1 PRSS1,PRSS2,TRY6 NA12812 nsv831167 7 142080842 142223572 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446566,nssv1446564,nssv1446563,nssv1446565,nssv1446561 M 95 3 2 PRSS1,PRSS2,TRY6 dgv2146e1 7 142092706 142211931 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1661,essv4099 M 271 0 0 PRSS1,PRSS2,TRY6 NA18529,NA18961 nsv819176 7 142103004 142148546 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418740 S 2 0 1 PRSS1 AK1 nsv889274 7 142104463 142477872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557983 S 6533 0 1 C7orf34,EPHB6,KEL,OR6V1,OR6W1P,OR9A2,PRSS1,PRSS2,TRPV5,TRPV6,TRY6 MS23025 nsv818564 7 142114524 142192134 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417098 S 112 0 1 PRSS1,PRSS2,TRY6 NA18529 nsv508487 7 142120537 142192249 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618823,nssv620000,nssv617356,nssv622588 M 4 0 4 PRSS1,PRSS2,TRY6 CHM,NA10860,NA15510,NA18994 nsv824338 7 142133605 142178834 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427584 S 31 0 1 PRSS1,PRSS2,TRY6 AK8 esv27267 7 142134204 142184405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14102,esv10270 M 451 0 17 PRSS1,PRSS2,TRY6 NA06985,NA07037,NA07045,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12776,NA15510,NA18517,NA18523,NA19129,NA19225 nsv515039 7 142137664 142145312 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627050 S 1414 0 0 PRSS1 nsv15 7 142142156 142195729 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv15 S 1 0 1 PRSS2,TRY6 NA15510 nsv5982 7 142142156 142240517 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9729,nssv1691,nssv10583,nssv8441,nssv1690,nssv11164,nssv5023,nssv1689,nssv6173 M 9 0 6 PRSS2,TRY6 NA12156,NA15510,NA18507,NA18555,NA18956,NA19129 esv8072 7 142142418 142184301 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30513 S 1 0 1 PRSS2,TRY6 SJK dgv1138n67 7 142150367 142179049 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824339,nsv824345,nsv824343,nsv824341,nsv824344,nsv824348,nsv824350 M 31 0 15 PRSS2,TRY6 AK10,AK12,AK16,AK2,AK20,AK4,NA18526,NA18542,NA18552,NA18564,NA18942,NA18947,NA18949,NA18972,NA18997 nsv8224 7 142152231 142187128 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17228,nssv16728,nssv17229,nssv16455,nssv15896,nssv15412,nssv15395,nssv16485,nssv16596,nssv16306,nssv15932,nssv19304,nssv15594,nssv15926,nssv16888,nssv16135,nssv16165,nssv15564,nssv18983,nssv16054,nssv14831 M 31 0 17 Samples from several populations that are part of the HapMap project. PRSS2,TRY6 NA07029,NA10839,NA10847,NA10863,NA12155,NA12740,NA12872,NA18517,NA18537,NA18552,NA18564,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144 nsv819676 7 142152233 142176592 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418697 S 2 0 1 TRY6 AK1 dgv1139n67 7 142153065 142173345 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824349,nsv824340,nsv824347,nsv824346,nsv824351 M 31 0 10 TRY6 AK18,AK6,NA18537,NA18547,NA18582,NA18592,NA18951,NA18968,NA18973,NA18999 esv2422787 7 142154580 142176318 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350711 S 1 0 1 TRY6 NA18507 dgv54n47 7 142155267 142175905 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499078,nsv499461 M 9 0 2 TRY6 nsv442207 7 142155609 142167486 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TRY6 esv2217431 7 142155621 142176221 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4928882 S 1 0 1 TRY6 NA18507 nsv511995 7 142155630 142177050 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624540 S 1 0 1 TRY6 1 esv32956 7 142155670 142178301 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101613,essv93915,essv100663,essv98287,essv94117,essv101372,essv97030,essv97909,essv93133,essv101719,essv94484,essv92724,essv96175,essv96693,essv97160,essv99949,essv96078,essv93542,essv92536,essv98112,essv96553,essv100226,essv99553,essv98443,essv96265 M 51 14 11 TRY6 21603,21634,21656,21772,21802,21805,21817,21837,21863,21909,21932,21944,22007,22011,22075,22086,22127,22128,22233,22259,22261,22286,22335,22352,22371 esv2421493 7 142156294 142167486 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5082887,essv5129988,essv5062097,essv5040085,essv5029581,essv5023421,essv5086796,essv5056009,essv5127870,essv5020971,essv5127504,essv5012003,essv5005622,essv5088420,essv5014508,essv5156633,essv5107513,essv5141556,essv5105317,essv5048975,essv5064994,essv5001949,essv5066087,essv5097356,essv5116801,essv5150920,essv5153724,essv5154915,essv5015175,essv5143572,essv5142755,essv5121790,essv5085793,essv5129334,essv5013729,essv5091001,essv5086043,essv5065660,essv5143931,essv5058826,essv5009714,essv5146395,essv5113631,essv5031633,essv5122645,essv5060937,essv5096979,essv5140414,essv5039172,essv5139775,essv5081916,essv5047546,essv5097575,essv5100896,essv5108411,essv5129876,essv5011382,essv5059006,essv5115787,essv5144245,essv5017110,essv5022089,essv5049712,essv5152396,essv5037917,essv5107381,essv5130680,essv5101308,essv5028879,essv5021286,essv5016192,essv5159922,essv5025665,essv5091430,essv5109567,essv5040685,essv5114275,essv5082189,essv5090327,essv5060144,essv5149998,essv5087459,essv5035462,essv5079570,essv5084247,essv5016031,essv5021430,essv5010723,essv5090443,essv5004076,essv5089955,essv5102997,essv5160626,essv5107109,essv5110350,essv5093131,essv5053780,essv5058774,essv5139837,essv5133057,essv5020738,essv5027562,essv5137378,essv5012078,essv5019540,essv5066972,essv5060688,essv5041497,essv5058544,essv5092427,essv5151839,essv5151754,essv5050766,essv5025395,essv5155143,essv5013757,essv5108396,essv5084029,essv5042940,essv5040246,essv5006684,essv5118305,essv5036255,essv5077029,essv5037050,essv5071475,essv5113385,essv5139132,essv5098327,essv5044929,essv5012294,essv5075639,essv5143753,essv5013159,essv5117816,essv5047498,essv5018081,essv5059581,essv5026487,essv5158558,essv5058431,essv5055161,essv5094057,essv5041759,essv5051400,essv5132239,essv5038936,essv5123847,essv5047549,essv5014555,essv5037065,essv5094476,essv5080328,essv5093855,essv5054601,essv5156582,essv5153923,essv5118583,essv5033323,essv5101141,essv5141930,essv5101413,essv5117341,essv5082269,essv5134970,essv5156894,essv5146956,essv5078608,essv5107147,essv5138858,essv5103967,essv5159655,essv5009484,essv5132324,essv5009429,essv5151953,essv5141186,essv5102147,essv5105272,essv5030114,essv5143220,essv5082201,essv5047911,essv5030574,essv5035806,essv5037279,essv5069540,essv5022424,essv5137199,essv5135475,essv5135734,essv5127015,essv5099924,essv5047489,essv5076897,essv5018773,essv5062561,essv5117744,essv5108689,essv5048770,essv5038092,essv5047239,essv5027385,essv5111611,essv5069382,essv5135700,essv5134254,essv5134203,essv5025726,essv5012816,essv5115932,essv5115473,essv5016830,essv5112277,essv5156625,essv5073349,essv5034551,essv5030486,essv5118538,essv5018856,essv5011298,essv5059405,essv5117777,essv5059622,essv5055561,essv5031708,essv5018452,essv5104387,essv5073601,essv5006941,essv5145180,essv5152512,essv5069969,essv5016807,essv5157351,essv5012289,essv5037912,essv5033649,essv5085270,essv5144409,essv5041960,essv5017370,essv5064067,essv5121688,essv5117963,essv5144128,essv5067458,essv5017831,essv5093346,essv5062208,essv5153485,essv5087341,essv5072854,essv5096451,essv5109847,essv5010041,essv5026683,essv5131865,essv5078028,essv5096477,essv5114979,essv5124689,essv5095324,essv5089001,essv5148943,essv5041840,essv5024683,essv5036400,essv5071014,essv5143436,essv5070595,essv5146652,essv5134554,essv5107332,essv5145201,essv5079819,essv5067808,essv5012739,essv5063443,essv5059166,essv5005495,essv5047208,essv5073629,essv5010424,essv5059624,essv5140004,essv5095917,essv5124690,essv5082606,essv5070650,essv5077079,essv5140271,essv5009319,essv5050616,essv5141823,essv5090486,essv5131342,essv5109782,essv5064218,essv5075842,essv5052967,essv5112820,essv5159083,essv5066511,essv5077966,essv5037435,essv5112340,essv5092287,essv5112216,essv5148007,essv5106921,essv5161150,essv5125673,essv5016415,essv5023209,essv5033319,essv5073856,essv5060931,essv5013835,essv5133845,essv5076737,essv5117892,essv5132470,essv5079424,essv5003824,essv5072269,essv5131255,essv5011118,essv5145061,essv5132326,essv5145457,essv5031829,essv5051659,essv5098283,essv5105735,essv5149940,essv5078071,essv5033170,essv5003374,essv5012476,essv5110476,essv5050009,essv5056701,essv5119679,essv5123274,essv5033613,essv5014919,essv5104335,essv5096540,essv5138140,essv5059781,essv5065144,essv5106515,essv5069710,essv5101862,essv5047470,essv5146375,essv5032754,essv5074696,essv5032613,essv5092720,essv5150015,essv5069290,essv5144570,essv5070517,essv5103916,essv5147197,essv5128430,essv5159528,essv5095773,essv5034971,essv5146990,essv5009614,essv5136961,essv5108778,essv5008124,essv5106785,essv5118442,essv5076891,essv5111731,essv5089342,essv5157939,essv5105304,essv5028021,essv5094570,essv5012796,essv5132478,essv5151817,essv5131594,essv5028250,essv5025616,essv5060994,essv5146046,essv5008830,essv5042255,essv5056927,essv5048901,essv5064923,essv5075280,essv5120387,essv5091490,essv5107589,essv5012431,essv5156564,essv5096044,essv5155357,essv5047567,essv5059032,essv5020346,essv5028072,essv5053964,essv5141710,essv5159081,essv5122770,essv5079106,essv5066710,essv5021518,essv5008383,essv5025743,essv5049787,essv5038282,essv5108372,essv5057662,essv5097089,essv5010133,essv5057008,essv5039581,essv5003716,essv5033346,essv5033284,essv5123518,essv5106754,essv5091125,essv5010179,essv5147106,essv5160100,essv5140931,essv5104247,essv5075717,essv5153218,essv5022318,essv5117148,essv5150678,essv5095357,essv5061176,essv5029249,essv5155230,essv5006084,essv5015483,essv5075702,essv5137649,essv5021216,essv5119162,essv5151740,essv5071389,essv5054647,essv5141173,essv5139515,essv5086354,essv5097879,essv5143304,essv5135096,essv5131300,essv5038155,essv5106747,essv5097660,essv5072687,essv5129265,essv5006732,essv5102046,essv5134350,essv5149006,essv5144513,essv5026608,essv5150295,essv5007271,essv5146193,essv5106863,essv5144405,essv5076965,essv5095466,essv5086445,essv5079311,essv5124419,essv5034188,essv5026595,essv5075744,essv5110650,essv5138271,essv5151159,essv5080173,essv5036629,essv5066762,essv5016816,essv5081576,essv5139410,essv5083799,essv5097444,essv5019875,essv5086327,essv5112442,essv5115034,essv5155550,essv5093806,essv5130821,essv5061301,essv5011870,essv5106407,essv5160817,essv5095148,essv5104409,essv5034817,essv5042307,essv5017025,essv5034203,essv5110992,essv5046909,essv5100208,essv5008333,essv5150358,essv5062787,essv5092519,essv5057250,essv5031471,essv5030262,essv5022850,essv5036533,essv5021476,essv5022796,essv5144740,essv5015615,essv5056911,essv5011086,essv5095691,essv5038494,essv5055196,essv5141253,essv5007118,essv5082010,essv5158919,essv5005481,essv5096973,essv5155044,essv5086142,essv5029432,essv5088607,essv5112355,essv5080814,essv5035641,essv5056653,essv5037548,essv5122938,essv5155727,essv5063784,essv5043217,essv5132086,essv5062158,essv5061472,essv5081756,essv5039540,essv5030935,essv5072390,essv5116435,essv5040302,essv5119128,essv5018487,essv5113407,essv5102235,essv5141283,essv5124889,essv5153200,essv5119342,essv5100223,essv5044520,essv5083692,essv5122178,essv5042872,essv5112839,essv5011510,essv5154121,essv5024059,essv5024201,essv5065129,essv5100121,essv5007556,essv5023148,essv5075016,essv5105340,essv5017706,essv5091095,essv5027064,essv5093565,essv5098300,essv5138107,essv5005421,essv5068879,essv5090330,essv5047972,essv5003927,essv5150228,essv5014503,essv5136607,essv5010825,essv5051220,essv5132758,essv5096442,essv5076074,essv5056485,essv5119094,essv5145052,essv5052484,essv5149149,essv5048326,essv5118904,essv5131283,essv5039896,essv5066367,essv5112326,essv5148399,essv5091519,essv5034015,essv5065984,essv5087752,essv5123954,essv5140323,essv5032411,essv5021278,essv5107941,essv5136730,essv5076555,essv5135079,essv5112756,essv5076681,essv5150332,essv5023906,essv5096459,essv5118167,essv5086264,essv5074902,essv5070988,essv5112061,essv5013210,essv5138871,essv5055224,essv5036455,essv5035658,essv5147578,essv5060928,essv5020142,essv5044396,essv5144667,essv5097621,essv5159662,essv5046730,essv5105637,essv5113005,essv5018738,essv5055130,essv5109199,essv5096103,essv5014139,essv5062475,essv5004007,essv5086124,essv5012091,essv5055389,essv5160984,essv5154921,essv5102766,essv5103332,essv5100085,essv5063665,essv5058957,essv5111753,essv5075697,essv5049545,essv5007653,essv5131703,essv5149751,essv5099409,essv5119385,essv5148451,essv5022654,essv5040630,essv5015579,essv5120738,essv5054385,essv5122137,essv5104219,essv5059136,essv5074676,essv5047245,essv5024391,essv5126901,essv5004143,essv5107846,essv5035675,essv5093730,essv5120939,essv5055435,essv5107222,essv5092219,essv5107599,essv5033169,essv5155411,essv5142609,essv5032275,essv5139907,essv5155533,essv5024607 M 1184 0 710 TRY6 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07029,NA07037,NA07045,NA07055,NA07345,NA07347,NA07348,NA07357,NA10837,NA10838,NA10839,NA10840,NA10845,NA10846,NA10847,NA10852,NA10856,NA10859,NA10861,NA10863,NA10864,NA11829,NA11831,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11917,NA11918,NA11919,NA11920,NA11931,NA11993,NA11995,NA12006,NA12044,NA12057,NA12144,NA12145,NA12154,NA12155,NA12156,NA12234,NA12239,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12376,NA12399,NA12400,NA12413,NA12546,NA12707,NA12716,NA12718,NA12740,NA12748,NA12751,NA12752,NA12760,NA12761,NA12762,NA12763,NA12767,NA12776,NA12777,NA12778,NA12801,NA12812,NA12813,NA12814,NA12815,NA12817,NA12827,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12877,NA12889,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18138,NA18139,NA18140,NA18141,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18161,NA18162,NA18166,NA18484,NA18486,NA18488,NA18507,NA18515,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18613,NA18614,NA18615,NA18616,NA18617,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18855,NA18857,NA18859,NA18867,NA18868,NA18869,NA18924,NA18925,NA18933,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18949,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19027,NA19028,NA19035,NA19038,NA19041,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19117,NA19119,NA19121,NA19128,NA19129,NA19138,NA19141,NA19142,NA19144,NA19149,NA19175,NA19176,NA19179,NA19182,NA19183,NA19197,NA19199,NA19204,NA19209,NA19213,NA19215,NA19225,NA19235,NA19247,NA19249,NA19311,NA19316,NA19318,NA19321,NA19324,NA19346,NA19350,NA19371,NA19373,NA19379,NA19383,NA19385,NA19393,NA19394,NA19403,NA19428,NA19438,NA19448,NA19449,NA19457,NA19471,NA19473,NA19625,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19661,NA19663,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19680,NA19681,NA19683,NA19684,NA19686,NA19700,NA19703,NA19708,NA19711,NA19712,NA19716,NA19720,NA19721,NA19722,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19750,NA19756,NA19757,NA19759,NA19760,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19790,NA19818,NA19828,NA19909,NA19914,NA19915,NA19919,NA19921,NA19982,NA20127,NA20128,NA20277,NA20279,NA20282,NA20292,NA20297,NA20302,NA20322,NA20334,NA20335,NA20336,NA20337,NA20357,NA20360,NA20363,NA20364,NA20502,NA20506,NA20508,NA20509,NA20510,NA20516,NA20517,NA20519,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20530,NA20531,NA20539,NA20540,NA20582,NA20586,NA20752,NA20753,NA20756,NA20757,NA20758,NA20760,NA20761,NA20768,NA20769,NA20771,NA20772,NA20773,NA20774,NA20775,NA20785,NA20786,NA20792,NA20796,NA20797,NA20799,NA20801,NA20803,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20818,NA20819,NA20826,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21101,NA21103,NA21105,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21123,NA21142,NA21143,NA21144,NA21300,NA21303,NA21308,NA21311,NA21312,NA21313,NA21314,NA21316,NA21317,NA21320,NA21333,NA21336,NA21339,NA21344,NA21356,NA21360,NA21362,NA21364,NA21365,NA21366,NA21368,NA21370,NA21385,NA21386,NA21387,NA21399,NA21401,NA21402,NA21404,NA21405,NA21417,NA21420,NA21423,NA21435,NA21439,NA21441,NA21442,NA21447,NA21448,NA21475,NA21477,NA21478,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21510,NA21512,NA21513,NA21514,NA21517,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21528,NA21575,NA21576,NA21578,NA21580,NA21597,NA21599,NA21601,NA21611,NA21614,NA21617,NA21619,NA21631,NA21632,NA21634,NA21635,NA21650,NA21678,NA21683,NA21689,NA21719,NA21723,NA21738,NA21776,NA21784 esv2486101 7 142156789 142173652 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351534 S 1 0 1 TRY6 NA18507 nsv438011 7 142160877 142170663 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469535,nssv469555,nssv469482,nssv469533,nssv469529,nssv469546,nssv469476,nssv469565,nssv469557,nssv469539,nssv469478,nssv469564,nssv469561,nssv469572,nssv469549,nssv469548,nssv469577,nssv469528,nssv469475,nssv469525,nssv469504,nssv469494,nssv469493,nssv469531,nssv469499,nssv469510,nssv469522,nssv469566,nssv469495,nssv469488,nssv469558,nssv469511,nssv469568,nssv469542,nssv469550,nssv469544,nssv469487,nssv469480,nssv469517,nssv469521,nssv469506,nssv469527,nssv469498,nssv469575,nssv469576,nssv469502,nssv469559,nssv469490,nssv469489,nssv469538,nssv469473,nssv469534,nssv469477,nssv469492,nssv469481,nssv469505,nssv469523,nssv469536,nssv469540,nssv469553,nssv469573,nssv469562,nssv469545,nssv469551,nssv469515,nssv469508,nssv469570,nssv469501,nssv469547,nssv469512,nssv469567,nssv469560,nssv469497,nssv469484,nssv469472,nssv469483,nssv469569,nssv469486,nssv469479,nssv469524,nssv469509,nssv469556,nssv469520,nssv469554,nssv469500,nssv469513,nssv469526,nssv469516,nssv469514,nssv469543,nssv469571,nssv469537,nssv469503,nssv469532,nssv469491 M 269 0 57 Samples from several populations that are part of the HapMap project. TRY6 NA06991,NA07345,NA10846,NA10851,NA11829,NA11993,NA12264,NA12716,NA12761,NA12812,NA18524,NA18529,NA18532,NA18537,NA18547,NA18550,NA18552,NA18555,NA18561,NA18571,NA18573,NA18577,NA18582,NA18603,NA18605,NA18609,NA18611,NA18620,NA18621,NA18622,NA18623,NA18635,NA18636,NA18637,NA18940,NA18943,NA18944,NA18945,NA18949,NA18952,NA18956,NA18959,NA18960,NA18961,NA18966,NA18970,NA18973,NA18974,NA18975,NA18978,NA18980,NA18990,NA18992,NA18995,NA18998,NA19003,NA19007 esv990764 7 142161983 142179121 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564560 S 3 0 1 PRSS2 HuRef nsv824352 7 142162559 142166910 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424320 S 31 0 1 "" NA18582 nsv824354 7 142162782 142165703 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440874,nssv1431425,nssv1439769 M 31 0 3 "" AK18,NA18537,NA18547 nsv889275 7 142167123 142236056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526315 S 6533 0 1 PRSS2 SP57165 nsv824355 7 142193953 142204096 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434505 S 31 0 1 "" NA18570 esv21625 7 142194021 142204412 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21091 S 451 0 1 "" NA06985 nsv499611 7 142194029 142205270 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586054 S 9 0 1 "" nsv8226 7 142194153 142205533 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16593 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv28526 7 142214325 142215015 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14707 S 451 0 1 "" NA19108 esv2356762 7 142237873 142238322 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987586 S 1 0 1 "" NA18507 nsv831168 7 142238484 142433127 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446567 S 95 1 0 C7orf34,EPHB6,KEL,TRPV5,TRPV6 dgv7504n71 7 142255340 142268255 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889277,nsv889278,nsv889276 M 6533 0 4 EPHB6 SP54725,SP54956,SP54988,SP55021 nsv526015 7 142272858 142351329 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702243 S 2026 1 0 C7orf34,EPHB6,KEL,TRPV5,TRPV6 nsv520735 7 142273375 142351329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679629,nssv674860 M 2026 0 2 C7orf34,EPHB6,KEL,TRPV5,TRPV6 dgv7505n71 7 142284082 142304610 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889282,nsv889281,nsv889279 M 6533 3 0 TRPV6 SP50649,SP56267,SP57472 nsv889280 7 142285505 142293064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503893 S 6533 1 0 TRPV6 SP52124 dgv7506n71 7 142285505 142315343 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889284,nsv889283 M 6533 2 0 TRPV6 SP52093,SP54620 nsv889285 7 142288859 142326283 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503554 S 6533 1 0 TRPV5,TRPV6 SP52077 esv269201 7 142314217 142314554 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518984 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv889286 7 142324749 142331323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503517 S 6533 0 1 TRPV5 SP52077 nsv465175 7 142477872 142591662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541031 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PIP,TAS2R39 HGDP00606 dgv432n21 7 142502780 142616127 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520261,nsv516782 M 2026 0 25 PIP,TAS2R39 esv27214 7 142512167 142517571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17625 S 451 0 1 "" NA19108 nsv5983 7 142528381 142535832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv690 S 9 1 0 "" NA19240 esv268958 7 142528759 142534824 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546431,essv2526213,essv2568204,essv2523393,essv2576698,essv2557236,essv2552460,essv2578649,essv2561514,essv2566950,essv2528085,essv2534052,essv2575489,essv2538764,essv2560527,essv2524078,essv2574576,essv2548127,essv2571321,essv2574292 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11918,NA11995,NA12004,NA12154,NA18501,NA18502,NA18510,NA18523,NA18853,NA18907,NA18916,NA19099,NA19108,NA19116,NA19129,NA19138,NA19210,NA19238,NA19240 esv274150 7 142528764 142534858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580839,essv2579388 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv465176 7 142540745 142591662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541032 S 1557 0 1 PIP,TAS2R39 1780862196_A esv32655 7 142560405 142574112 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101224,essv98065 M 51 0 2 "" 21618,22259 esv29078 7 142582346 142593479 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16652 S 451 0 1 TAS2R39 NA19190 nsv831169 7 142595398 142755240 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446568 S 95 0 1 CASP2,CLCN1,GSTK1,TAS2R40,TMEM139 nsv508488 7 142602410 142666488 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618824 S 4 0 1 TAS2R40 NA10860 nsv5984 7 142712219 142757385 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8442 S 9 0 1 CASP2,CLCN1 NA12156 nsv5985 7 142716009 142745691 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5024 S 9 1 0 CLCN1 NA19129 nsv517520 7 142760095 142807222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663766,nssv658567,nssv652261,nssv691992,nssv660138,nssv678482,nssv686691,nssv666309,nssv652294,nssv670866,nssv690766,nssv683655,nssv671532 M 2026 0 13 EPHA1,FAM131B,ZYX nsv482115 7 142788482 142798324 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558476 S 1 1 0 ZYX KB1 dgv2147e1 7 142857897 143293349 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv810,essv16837,essv14995,essv2241,essv24291,essv551,essv15510,essv9421,essv6401,essv900,essv11938,essv5573,essv12835,essv17151,essv6293,essv1497,essv12231,essv13673,essv13587,essv24775,essv2811,essv4680,essv4134,essv1387,essv19655,essv11052,essv7354,essv17036,essv12343,essv14476,essv5026,essv4424,essv11261,essv13413,essv8189,essv652,essv9889,essv12488,essv4090,essv23796,essv13738,essv19287,essv23071,essv23987,essv7694,essv11449,essv8389,essv9030,essv24579,essv22341,essv210,essv14085,essv6719,essv23256,essv2537,essv15344,essv21174,essv9763,essv23838,essv5816,essv17041,essv10869,essv8314,essv16811,essv16255,essv9737,essv5202,essv12724,essv15737,essv1622,essv18727,essv3794,essv24899,essv10075,essv22819,essv23672,essv12681,essv10919,essv20196,essv1952,essv17226,essv15057,essv9207,essv3114,essv4004,essv10197 M 271 0 0 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965,OR2F1,OR2F2,TAS2R41 NA06985,NA06994,NA07022,NA07029,NA10838,NA10856,NA10860,NA10863,NA11830,NA11832,NA11992,NA12004,NA12264,NA12716,NA12763,NA12812,NA12874,NA18500,NA18502,NA18503,NA18505,NA18529,NA18555,NA18566,NA18570,NA18572,NA18573,NA18576,NA18608,NA18609,NA18611,NA18622,NA18633,NA18635,NA18857,NA18858,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18913,NA18914,NA18942,NA18943,NA18948,NA18959,NA18966,NA18969,NA18970,NA18973,NA18975,NA18980,NA18987,NA18998,NA19000,NA19003,NA19007,NA19099,NA19101,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19131,NA19132,NA19138,NA19143,NA19144,NA19145,NA19152,NA19153,NA19161,NA19171,NA19172,NA19192,NA19201,NA19204,NA19205,NA19207,NA19208,NA19209 nsv428188 7 142857897 143828603 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451330,nssv451334,nssv451343,nssv451324,nssv451326,nssv451321,nssv451318,nssv451339,nssv451307,nssv451340,nssv451336,nssv451338,nssv451315,nssv451329,nssv451319,nssv451316,nssv451332,nssv451308,nssv451344,nssv451310,nssv451311,nssv451341,nssv451337,nssv451312,nssv451328,nssv451346,nssv451314,nssv451323,nssv451327,nssv451322,nssv451347,nssv451335,nssv451325,nssv451313,nssv451345,nssv451317,nssv451333 M 62 14 22 ARHGEF35,ARHGEF5,CTAGE15P,CTAGE4,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965,LOC728377,NOBOX,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P,OR2F1,OR2F2,OR6B1,TAS2R41,TPK1 HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19108,NA19147,NA19181,NA19189,NA19225,NA19257 dgv2148e1 7 142857897 143999571 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16133,essv10771,essv3180,essv8756,essv15253,essv24693,essv12541,essv8163,essv17281,essv15606,essv15635,esv435,essv10383,essv7274,essv11881,essv7148,essv21529,essv11629 M 271 0 0 ARHGEF35,ARHGEF5,CTAGE15P,CTAGE4,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965,LOC728377,NOBOX,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P,OR2F1,OR2F2,OR6B1,TAS2R41,TPK1 NA11829,NA12873,NA18523,NA18547,NA18592,NA18856,NA18912,NA19012,NA19092,NA19094,NA19098,NA19100,NA19137,NA19154,NA19206,NA19221,NA19222 nsv831171 7 142897566 142956394 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446574,nssv1446569,nssv1446571,nssv1446570,nssv1446572,nssv1446578,nssv1446575,nssv1446577,nssv1446576,nssv1446579,nssv1446580,nssv1446581 M 95 3 9 LOC285965 esv2422489 7 142918156 143366968 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161421 S 181 1 0 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965,OR2F1,OR2F2,OR6B1 ND04045 esv29816 7 142926646 143203524 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11911,esv15134,esv16756 M 451 12 4 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965 NA06985,NA07045,NA12004,NA12776,NA18502,NA18505,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19129,NA19147,NA19190,NA19257 nsv889287 7 142926851 143004606 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523708,nssv1575540 M 6533 1 1 CTAGE15P,LOC285965 IS33771,SP54162 nsv889289 7 142926851 143047853 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524970,nssv1522364,nssv1594461,nssv1550513,nssv1563922 M 6533 1 4 CTAGE15P,FAM115C,LOC285965 IS30129,IS39886,MS18436,SP52933,SP55417 dgv7507n71 7 142926851 143056311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889299,nsv889298,nsv889291,nsv889288,nsv889290,nsv889300,nsv889292 M 6533 0 22 CTAGE15P,FAM115C,LOC285965 IS30211,IS30455,IS36179,IS38241,MS14374,MS15050,MS17773,MS19340,SP50936,SP51179,SP52369,SP53709,SP54456,SP55093,SP55424,SP56125,SP56196,SP56248,SP58031,SP81276,SP81354,SP81538 nsv889294 7 142926851 143189404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592651 S 6533 1 0 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965 IS39243 dgv7508n71 7 142926851 143206916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889293,nsv889295 M 6533 0 3 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965 IS34599,IS38515,IS39464 nsv8227 7 142926963 143706473 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15562,nssv18627,nssv16195,nssv17318,nssv17288,nssv16507,nssv15455,nssv16926,nssv16396,nssv18537,nssv18372,nssv16366,nssv16896,nssv15986,nssv19920,nssv18741,nssv16716,nssv17039,nssv18252,nssv15079,nssv15956,nssv16818,nssv15532,nssv15340,nssv16545,nssv16447,nssv15310,nssv16144,nssv16866,nssv19950,nssv16477,nssv18567,nssv15049,nssv16836,nssv18711,nssv16070,nssv16112,nssv16022,nssv16788,nssv15472,nssv16626,nssv14861,nssv15019,nssv15280,nssv16656,nssv15962,nssv16037,nssv16204,nssv16776,nssv19013,nssv18597,nssv14921,nssv16948,nssv17491,nssv16052,nssv16806,nssv15515,nssv17461,nssv15502,nssv16174,nssv16336,nssv16456,nssv18282,nssv16515,nssv16537,nssv18312,nssv15624,nssv15485,nssv15684,nssv16575,nssv16142,nssv14891,nssv19890,nssv19334,nssv15992,nssv19830,nssv17258,nssv16160,nssv18342,nssv16686,nssv16130,nssv19860,nssv16040,nssv16918,nssv19980,nssv16387,nssv15654,nssv16016,nssv16114 M 31 11 27 Samples from several populations that are part of the HapMap project. ARHGEF35,ARHGEF5,CTAGE15P,CTAGE4,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965,LOC728377,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P,OR2F1,OR2F2,OR6B1 NA07029,NA10839,NA10847,NA10863,NA11830,NA12155,NA12802,NA12872,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv889296 7 142927750 142994410 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501006 S 6533 0 1 CTAGE15P,LOC285965 SP50880 nsv889297 7 142927750 143004606 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514378 S 6533 1 0 CTAGE15P,LOC285965 SP56003 dgv9n29 7 142929068 143108279 CNV Complex Locke et al 2006 16826518 BAC_aCGH nsv469589,nsv469753 M 265 41 3 CTAGE15P,CTAGE6P,FAM115C,LOC285965 nsv442210 7 142929090 143198992 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761,LOC285965 nsv831172 7 142933456 142962818 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446582,nssv1446583,nssv1446585,nssv1446588,nssv1446594,nssv1446586,nssv1446587,nssv1446593,nssv1446589,nssv1446590,nssv1446592,nssv1446591 M 95 2 10 "" nsv514455 7 142933680 143171936 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627913 S 1414 0 0 CTAGE15P,CTAGE6P,FAM115C,LOC154761 dgv7509n71 7 142956910 143020527 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889302,nsv889301 M 6533 0 2 CTAGE15P IS40129,SP81047 nsv7408 7 142969027 143237189 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6174,nssv11165,nssv5025,nssv6175,nssv9449,nssv1692,nssv3586,nssv11166,nssv5026,nssv9730 M 9 0 0 CTAGE15P,CTAGE6P,FAM115A,FAM115C,LOC154761 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA19129 nsv889303 7 142970654 143055736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527491 S 6533 0 1 CTAGE15P,FAM115C SP58467 esv1007224 7 142978617 142983469 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586771 S 3 1 0 CTAGE15P HuRef nsv5986 7 142988766 143023128 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2777 S 9 1 0 "" NA18555 nsv16 7 143001137 143237154 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv16 S 1 0 0 CTAGE6P,FAM115A,FAM115C,LOC154761 NA15510 essv11145 7 143028831 143211337 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CTAGE6P,FAM115A,FAM115C,LOC154761 NA19211 dgv7510n71 7 143028896 143076409 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv889305,nsv889304 M 6533 5 2 FAM115C IS34395,MS16746,SP51054,SP51342,SP52077,SP55469,SP56172 nsv889306 7 143028896 143126726 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537525 S 6533 0 1 CTAGE6P,FAM115C MS13240 dgv7511n71 7 143028896 143163515 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv889307,nsv889314 M 6533 2 2 CTAGE6P,FAM115C,LOC154761 IS32150,MS15528,MS25653,SP52902 nsv819199 7 143031678 143081238 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418746 S 2 1 0 FAM115C AK1 dgv7512n71 7 143052126 143076409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889311,nsv889308 M 6533 3 0 FAM115C SP54935,SP55966,SP57671 nsv889309 7 143052126 143084451 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535084,nssv1520319 M 6533 1 1 CTAGE6P,FAM115C MS12005,SP50822 dgv7513n71 7 143052126 143150424 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889310,nsv889319 M 6533 2 0 CTAGE6P,FAM115C,LOC154761 SP55200,SP55911 dgv7514n71 7 143055736 143167358 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889315,nsv889312,nsv889322 M 6533 0 3 CTAGE6P,FAM115C,LOC154761 IS38646,MS24330,SP81355 nsv520055 7 143056311 143063852 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697198 S 2026 0 1 FAM115C nsv818565 7 143056311 143063852 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415728 S 112 1 0 FAM115C NA19140 nsv522225 7 143056311 143505123 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695002 S 2026 1 0 CTAGE6P,FAM115A,FAM115C,LOC154761,OR2A12,OR2A14,OR2A2,OR2A25,OR2A5,OR2F1,OR2F2,OR6B1 nsv824356 7 143056317 143065611 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432159 S 31 0 1 FAM115C AK20 nsv17 7 143060726 143173190 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv17 S 1 0 0 CTAGE6P,LOC154761 NA15510 nsv889313 7 143063934 143126726 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543022,nssv1539113,nssv1562087 M 6533 3 0 CTAGE6P MS14164,MS16023,MS25369 dgv7515n71 7 143063934 143206916 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv889316,nsv889318 M 6533 3 16 CTAGE6P,FAM115A,LOC154761 IS32666,IS35196,IS36179,IS38219,IS38694,IS39886,IS40129,MS17056,MS17773,MS18436,MS19340,SP51179,SP52369,SP54162,SP55093,SP55417,SP58108,SP81276,SP81538 dgv7516n71 7 143063934 143206916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889334,nsv889317,nsv889320,nsv889321,nsv889325,nsv889324,nsv889333,nsv889328 M 6533 0 16 CTAGE6P,FAM115A,LOC154761 IS30211,IS38241,MS14374,MS15050,SP50723,SP50936,SP52933,SP54456,SP55424,SP56125,SP56196,SP56248,SP58031,SP58467,SP81047,SP81354 nsv469570 7 143069192 143286717 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649683 M 265 12 13 Samples from several populations that are part of the HapMap project. CTAGE6P,FAM115A,LOC154761,OR2F2 nsv471645 7 143069193 143286717 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549389,nssv549391,nssv549393,nssv549387,nssv549394,nssv549396,nssv549390,nssv549388,nssv549392,nssv549397,nssv549395,nssv549386,nssv549385 M 48 4 9 CTAGE6P,FAM115A,LOC154761,OR2F2 JK1051,JK1688,NA10469,NA10471,NA10472,NA10967,NA10969,NA10970,NA10971,NA10976,NA11776,NA17016,NA17017 dgv7517n71 7 143076409 143184624 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889323,nsv889326 M 6533 2 0 CTAGE6P,FAM115A,LOC154761 IS32775,MS16211 dgv7518n71 7 143088653 143184624 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889332,nsv889335,nsv889327 M 6533 0 3 FAM115A,LOC154761 IS30455,MS10465,SP53709 nsv824357 7 143096806 143172085 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433786 S 31 0 1 LOC154761 NA18592 nsv824358 7 143096806 143178980 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430684 S 31 1 0 LOC154761 AK16 dgv7519n71 7 143100579 143163515 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889330,nsv889329 M 6533 4 0 LOC154761 IS33771,MS16376,MS18248,SP50997 nsv889331 7 143100579 143167358 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551940,nssv1523858,nssv1592907,nssv1593087,nssv1544056 M 6533 3 2 LOC154761 IS39316,IS39354,MS16214,MS19023,SP54227 nsv824359 7 143146214 143178980 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432160 S 31 1 0 LOC154761 AK20 esv33716 7 143146453 143178809 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98630 S 51 1 0 LOC154761 22085 esv1682998 7 143147370 143593175 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3855395 S 2 0 0 ARHGEF35,CTAGE4,FAM115A,LOC154761,LOC728377,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P,OR2F1,OR2F2,OR6B1 HuRef dgv842n27 7 143176652 143505123 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465179,nsv465178,nsv465181 M 1557 3 0 FAM115A,OR2A12,OR2A14,OR2A2,OR2A25,OR2A5,OR2F1,OR2F2,OR6B1 HGDP00013,HGDP01293,NINDS_149 nsv889336 7 143193381 143436346 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590431 S 6533 1 0 FAM115A,OR2A12,OR2A25,OR2A5,OR2F1,OR2F2,OR6B1 IS38511 dgv7520n71 7 143193381 143624648 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889339,nsv889337 M 6533 2 0 ARHGEF35,CTAGE4,FAM115A,LOC728377,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P,OR2F1,OR2F2,OR6B1 IS40558,SP52077 esv2752147 7 143203219 143497465 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982880,essv6982881,essv6982882,essv6986296 M 771 1 0 FAM115A,OR2A12,OR2A14,OR2A2,OR2A25,OR2A5,OR2F1,OR2F2,OR6B1 BEC_607 nsv889338 7 143207672 143225617 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503697 S 6533 0 1 FAM115A SP52094 dgv2149e1 7 143246098 143999571 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3288,essv10345,essv1606,essv1873,essv18723,essv7804,essv8476,essv2588,essv22683,essv11824,essv17898,essv16414,essv21841,essv14403,essv1765,essv15416,essv533,essv4606,essv6988,essv22074,essv14563,essv3701,essv21195,essv19592,essv23458,essv24481,essv16488,essv12275,essv8280,essv7313,essv13734,essv18279,essv23249,essv15732,essv4489,essv9247,essv15098,essv4873,essv24971,essv7378,essv9019,essv10476,essv18364,essv4192,essv11965,essv16683,essv19668,essv668,essv24424,essv24813,essv368,essv5148,essv22421,essv23443,essv13784,essv6616,essv9643,essv14313,essv5385,essv23991,essv10131,essv20118,essv8849,essv12327,essv22180,essv12405,essv17831,essv8600,essv14619,essv14135,essv2787,essv16332,essv19405,essv11582,essv10220,essv24525,essv13473,essv13142,essv9397,essv24915,essv9423,essv3772,essv13923,essv10648,essv11438,essv24577,essv4258,essv23326,essv12984,essv9133,essv14092,essv21141,essv15347,essv20207,essv22904,essv14971,essv10851,essv19901,essv16762,essv5054,essv17731,essv21985,essv19987,essv9651,essv4700,essv17190,essv20562,essv22163,essv12726,essv17077,essv5510,essv14420,essv3368,essv23140,essv2271,essv237,essv9779,essv1218,essv18973,essv7603,essv13554,essv10582,essv8912,essv4726,essv23626,essv22316,essv13644,essv17276,essv17471,essv14857,essv111,essv15479,essv15855,essv2315,essv21449 M 271 0 0 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,NOBOX,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P,OR2F1,OR2F2,OR6B1,TPK1 NA06985,NA06994,NA07029,NA07034,NA07048,NA07056,NA07345,NA10831,NA10839,NA10846,NA10854,NA10857,NA10860,NA10861,NA11830,NA11832,NA11839,NA11840,NA11992,NA11995,NA12003,NA12005,NA12006,NA12044,NA12056,NA12154,NA12155,NA12249,NA12264,NA12707,NA12716,NA12717,NA12750,NA12752,NA12760,NA12762,NA12802,NA12813,NA12815,NA12872,NA12874,NA12891,NA18503,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18524,NA18526,NA18545,NA18552,NA18558,NA18561,NA18563,NA18564,NA18570,NA18576,NA18603,NA18612,NA18620,NA18621,NA18622,NA18623,NA18632,NA18853,NA18854,NA18855,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18913,NA18914,NA18940,NA18942,NA18945,NA18947,NA18948,NA18951,NA18961,NA18966,NA18968,NA18971,NA18972,NA18975,NA18976,NA18987,NA18990,NA18997,NA18998,NA19093,NA19101,NA19102,NA19103,NA19119,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19138,NA19139,NA19140,NA19141,NA19142,NA19152,NA19153,NA19160,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19208,NA19210,NA19223,NA19238,NA19239,NA19240 nsv889340 7 143288360 143366892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600686 S 6533 1 0 OR2F1,OR6B1 IS41909 nsv831173 7 143288704 143460304 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446596 S 95 1 0 OR2A12,OR2A14,OR2A2,OR2A25,OR2A5,OR2F1,OR6B1 nsv525543 7 143303897 143318505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701680 S 2026 0 1 "" nsv5987 7 143308578 143347572 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5028 S 9 0 1 OR6B1 NA19129 nsv437578 7 143311253 143327518 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467459 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv499564 7 143315799 143321300 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586055 S 9 0 1 "" esv26661 7 143315822 143321257 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11056 S 451 0 2 "" NA19129,NA19190 nsv465183 7 143316770 143318505 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541036 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01416 nsv516996 7 143316770 143318505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685717,nssv676090,nssv690744,nssv656665,nssv657447,nssv671630,nssv660602,nssv684172,nssv656578,nssv688534,nssv674990,nssv675801,nssv659844,nssv666929,nssv653486,nssv680525,nssv653853,nssv677543,nssv674444,nssv680636,nssv653358,nssv682099,nssv653196,nssv691858,nssv692181,nssv659208,nssv671653,nssv657794,nssv663310 M 2026 0 29 "" nsv818566 7 143316770 143318505 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416563,nssv1416564 M 112 0 2 "" NA19171,NA19173 nsv821653 7 143340036 143354343 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421199,nssv1421198,nssv1421197 M 31 0 3 "" nsv442219 7 143341029 143342084 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2495924 7 143351527 143352618 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391062 S 1 1 0 "" NA18507 esv997801 7 143352112 143352112 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574868 S 3 1 0 "" HuRef esv1288663 7 143352163 143352163 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172271 S 2 1 0 "" HuRef esv26349 7 143366906 143367812 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18043 S 451 0 1 "" NA18909 dgv2150e1 7 143370074 143672851 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20227,essv2651,essv5585,essv7066,essv2444,essv4636,essv1399,essv23175,essv5260,essv3892,essv310,essv4136,essv12468,essv18453,essv8366,essv6338,essv5716,essv24125,essv6382,essv17436 M 271 0 0 ARHGEF35,CTAGE4,LOC728377,OR2A1,OR2A12,OR2A14,OR2A2,OR2A20P,OR2A25,OR2A42,OR2A5,OR2A7,OR2A9P NA10847,NA11831,NA12043,NA12144,NA12156,NA18529,NA18537,NA18555,NA18572,NA18593,NA18594,NA18609,NA18624,NA18858,NA18967,NA18978,NA18994,NA18999,NA19007,NA19207 nsv831174 7 143375797 143547348 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446602,nssv1446597,nssv1446598,nssv1446601,nssv1446600,nssv1446603,nssv1446604,nssv1446599 M 95 0 8 ARHGEF35,CTAGE4,OR2A12,OR2A14,OR2A2,OR2A25,OR2A5 nsv507424 7 143378732 143384732 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623022,nssv617753 M 4 2 0 OR2A5 CHM,NA18994 dgv7521n71 7 143398082 143547020 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889341,nsv889342,nsv889343 M 6533 3 0 ARHGEF35,CTAGE4,OR2A12,OR2A14,OR2A2,OR2A25 IS36450,IS37753,IS41898 esv1006326 7 143402232 143402805 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587241 S 3 1 0 OR2A25 HuRef nsv471453 7 143402246 143403177 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548319,nssv548320,nssv548321 M 3 OR2A25 esv2545546 7 143450548 143451595 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236370 S 1 1 0 "" NA18507 esv27244 7 143450857 143451775 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10268 S 451 0 1 "" NA19129 essv3984 7 143476412 143672851 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARHGEF35,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P NA18970 nsv7411 7 143488804 143740453 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1693,nssv9732,nssv3587,nssv10587,nssv9731,nssv10586,nssv6177,nssv691,nssv10585,nssv5029,nssv1695,nssv9450,nssv6176,nssv9451,nssv10584,nssv1694,nssv692,nssv3589,nssv3588 M 9 0 0 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,NOBOX,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P NA12156,NA12878,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 dgv7522n71 7 143495603 143710839 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889362,nsv889363,nsv889366,nsv889351,nsv889344,nsv889354,nsv889353,nsv889361,nsv889367 M 6533 12 0 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P IS30763,IS30969,IS31634,IS31651,IS31816,IS39243,IS39759,MS16918,MS17373,MS19340,SP53415,SP56913 dgv7523n71 7 143505123 143666554 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889358,nsv889345,nsv889347,nsv889346,nsv889359 M 6533 30 0 ARHGEF35,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P IS30178,IS30325,IS30616,IS30925,IS31045,IS31359,IS31441,IS31729,IS32666,IS33040,IS33796,IS35299,IS37214,IS39081,IS41927,MS11241,MS11836,MS13211,MS14247,MS14305,MS14601,MS15118,MS16343,MS16834,MS17438,MS17503,MS17678,MS23486,MS25891,SP52263 dgv7524n71 7 143505123 143705862 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv889350,nsv889349,nsv889348,nsv889352 M 6533 57 23 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P IS30829,IS31145,IS31763,IS31909,IS32744,IS32817,IS32864,IS32871,IS34648,IS35646,IS35742,IS36179,IS36183,IS36612,IS38183,IS38208,IS38240,IS38252,IS38403,IS38585,IS39391,IS39414,IS39490,IS40380,IS40524,IS41672,IS41806,MS10104,MS10166,MS10699,MS10797,MS11332,MS11467,MS12905,MS13219,MS13451,MS14266,MS14287,MS14779,MS16056,MS16066,MS16152,MS16611,MS16822,MS17067,MS17120,MS17599,MS17605,MS17696,MS17820,MS17911,MS18153,MS18436,MS18510,MS19489,MS20020,MS20146,MS20830,MS21314,MS21820,MS22000,MS23949,MS24183,MS24328,MS24586,MS24919,MS25052,MS25303,MS25306,MS25440,MS25728,SP50679,SP51143,SP54220,SP56731,SP58257,SP58389,SP81064,SP81238,SP81541 esv1003295 7 143506186 143605954 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565599 S 3 0 0 ARHGEF35,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P HuRef dgv7525n71 7 143506472 143705862 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889355,nsv889356,nsv889357,nsv889360,nsv889365 M 6533 0 5 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P MS15167,SP50856,SP53440,SP56396,SP80953 nsv821609 7 143506581 143705795 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420704 S 1 1 0 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P NA10851 nsv824360 7 143506581 143705959 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434506,nssv1435954,nssv1423513,nssv1436755,nssv1427731,nssv1424321,nssv1437535,nssv1422701,nssv1435194,nssv1427296,nssv1426787,nssv1431426,nssv1441167,nssv1432161,nssv1439770,nssv1430686,nssv1428402,nssv1425869,nssv1432971,nssv1433797 M 31 20 0 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P AK10,AK16,AK18,AK20,AK4,AK6,NA18537,NA18542,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18999 dgv24n31 7 143506618 143705312 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471485,nsv471516,nsv471515,nsv471486 M 3 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P nsv819701 7 143508408 143705208 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418914 S 2 1 0 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P AK1 esv24292 7 143508409 143705959 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17326,esv18649,esv13948,esv15690,esv17053,esv20630,esv15006,esv18096,esv17556,esv10300,esv18393 M 451 7 29 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P NA06985,NA07045,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv831175 7 143510480 143704657 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446658,nssv1446650,nssv1446608,nssv1446612,nssv1446661,nssv1446630,nssv1446622,nssv1446645,nssv1446619,nssv1446639,nssv1446616,nssv1446656,nssv1446627,nssv1446644,nssv1446613,nssv1446623,nssv1446657,nssv1446655,nssv1446624,nssv1446614,nssv1446626,nssv1446641,nssv1446605,nssv1446664,nssv1446615,nssv1446649,nssv1446660,nssv1446659,nssv1446607,nssv1446663,nssv1446618,nssv1446648,nssv1446647,nssv1446646,nssv1446611,nssv1446643,nssv1446653,nssv1446652,nssv1446638,nssv1446632,nssv1446609,nssv1446631,nssv1446621,nssv1446637,nssv1446620,nssv1446633,nssv1446625,nssv1446610,nssv1446654,nssv1446635,nssv1446636,nssv1446642,nssv1446634 M 95 0 53 ARHGEF35,ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P nsv831176 7 143511234 143549543 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446727,nssv1446685,nssv1446683,nssv1446709,nssv1446716,nssv1446690,nssv1446698,nssv1446688,nssv1446713,nssv1446710,nssv1446682,nssv1446712,nssv1446711,nssv1446681,nssv1446689,nssv1446715,nssv1446714,nssv1446687,nssv1446719,nssv1446693,nssv1446726,nssv1446697,nssv1446669,nssv1446692,nssv1446718,nssv1446691,nssv1446666,nssv1446721,nssv1446694,nssv1446720,nssv1446668,nssv1446696,nssv1446725,nssv1446665,nssv1446724,nssv1446722,nssv1446723,nssv1446667,nssv1446674,nssv1446730,nssv1446708,nssv1446670,nssv1446700,nssv1446734,nssv1446671,nssv1446702,nssv1446699,nssv1446729,nssv1446680,nssv1446686,nssv1446733,nssv1446701,nssv1446731,nssv1446732,nssv1446672,nssv1446735,nssv1446737,nssv1446679,nssv1446707,nssv1446736,nssv1446705,nssv1446675,nssv1446704,nssv1446703,nssv1446678,nssv1446676,nssv1446677 M 95 0 67 ARHGEF35,CTAGE4 nsv471454 7 143514610 143523669 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548324,nssv548325,nssv548323 M 3 ARHGEF35 nsv482116 7 143514610 143523669 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558477 S 1 1 0 ARHGEF35 KB1 esv33253 7 143514986 143584377 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101580,essv98666,essv97461,essv93941,essv100862,essv96775,essv100987,essv95115,essv98231,essv94782,essv94070,essv101390,essv94343,essv97069,essv95668,essv95525,essv93081,essv95357,essv101728,essv95762,essv94560,essv99036,essv92836,essv92711,essv93697,essv96083,essv96720,essv97136,essv98579,essv99994,essv96056,essv93497,essv93328,essv99568,essv92572,essv98107,essv99348,essv97751,essv100162,essv100359,essv99425,essv98412,essv96373,essv94162 M 51 44 0 ARHGEF35,OR2A1,OR2A20P,OR2A42,OR2A9P 21603,21606,21616,21634,21656,21659,21693,21721,21772,21791,21802,21805,21808,21817,21841,21847,21863,21872,21909,21911,21932,21938,21939,21944,21972,22007,22011,22075,22085,22086,22127,22128,22170,22217,22233,22259,22275,22278,22286,22300,22335,22352,22371,22394 nsv515040 7 143515168 143561488 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627051 S 1414 0 0 ARHGEF35,OR2A1,OR2A42 nsv433394 7 143518209 143658472 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463275 S 9 1 0 Samples from several populations that are part of the HapMap project. ARHGEF35,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P NA12156 nsv508489 7 143524814 143623384 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620001 S 4 0 1 CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P NA15510 nsv469769 7 143536877 143690755 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649790 M 265 97 2 Samples from several populations that are part of the HapMap project. ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P nsv471646 7 143536878 143690755 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550510,nssv550523,nssv550508,nssv550507,nssv550511,nssv550524,nssv550520,nssv550506,nssv550514,nssv550516,nssv550521,nssv550522,nssv550526,nssv550519,nssv550515,nssv550518,nssv550512,nssv550525,nssv550505,nssv550513,nssv550509,nssv550517 M 48 20 2 ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P JK1688,JK776,NA10472,NA10473,NA10494,NA10495,NA10967,NA10969,NA10970,NA15725,NA15728,NA15729,NA15730,NA16688,NA17014,NA17015,NA17016,NA17017,NA17020,NA17052,NA17058,NA17059 dgv7526n71 7 143547020 143705862 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889368,nsv889370,nsv889371,nsv889369,nsv889364 M 6533 10 0 ARHGEF5,CTAGE4,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A7,OR2A9P IS30098,IS33150,IS34680,IS38496,IS40495,IS41830,MS10351,MS15780,MS16796,SP52913 nsv510970 7 143566259 143640771 OTHER Inversion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622384 S 4 0 0 CTAGE4,LOC728377,OR2A20P,OR2A7,OR2A9P NA10860 esv8347 7 143576321 143630595 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30788 S 1 0 0 CTAGE4,LOC728377,OR2A20P,OR2A7,OR2A9P SJK dgv1140n67 7 143582664 143584461 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824362,nsv824361 M 31 8 0 "" AK12,AK14,AK2,NA18526,NA18547,NA18564,NA18951,NA18997 esv997591 7 143582664 143584617 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587107 S 3 1 0 "" HuRef nsv515041 7 143586848 143616304 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627052 S 1414 0 0 CTAGE4,LOC728377,OR2A7 dgv7527n71 7 143598651 143705862 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889374,nsv889372,nsv889376,nsv889375 M 6533 0 5 ARHGEF5,LOC728377,OR2A1,OR2A20P,OR2A42,OR2A9P IS32717,IS40958,MS23133,MS25868,SP55829 nsv889373 7 143608933 143676865 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559757,nssv1595166 M 6533 0 2 LOC728377,OR2A1,OR2A20P,OR2A42,OR2A9P IS40145,MS24121 nsv509222 7 143640771 143640771 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618068 S 4 1 0 "" CHM nsv471455 7 143646151 143647081 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548327,nssv548328,nssv548326 M 3 OR2A1,OR2A42 nsv831177 7 143665198 143839638 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446763,nssv1446786,nssv1446746,nssv1446752,nssv1446748,nssv1446750,nssv1446749,nssv1446783,nssv1446747,nssv1446753,nssv1446782,nssv1446754,nssv1446757,nssv1446755,nssv1446756,nssv1446761,nssv1446785,nssv1446758,nssv1446760,nssv1446759,nssv1446766,nssv1446745,nssv1446781,nssv1446765,nssv1446764,nssv1446770,nssv1446769,nssv1446767,nssv1446768,nssv1446779,nssv1446744,nssv1446771,nssv1446772,nssv1446743,nssv1446778,nssv1446738,nssv1446780,nssv1446741,nssv1446776,nssv1446775,nssv1446742,nssv1446774,nssv1446777 M 95 0 43 ARHGEF5,NOBOX,TPK1 nsv515042 7 143678896 143708608 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627054 S 1414 0 0 ARHGEF5 nsv471456 7 143683422 143708657 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548331,nssv548330,nssv548329 M 3 ARHGEF5 nsv482117 7 143683422 143708657 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558478 S 1 1 0 ARHGEF5 KB1 nsv889377 7 143704886 145043041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550081 S 6533 0 1 ARHGEF5,NOBOX,TPK1 MS18278 esv2477449 7 143816329 143817316 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195504 S 1 1 0 TPK1 NA18507 esv1743575 7 143816906 143816906 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665497 S 2 1 0 TPK1 HuRef nsv831178 7 143868771 144029077 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446787 S 95 1 0 TPK1 nsv8228 7 143933388 143936695 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17069 S 31 0 1 Samples from several populations that are part of the HapMap project. TPK1 NA19173 nsv889378 7 143936452 143975345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511973 S 6533 0 1 TPK1 SP55219 nsv889379 7 143936452 144060312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518047 S 6533 0 1 TPK1 SP57449 nsv525072 7 143951147 143952844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701126 S 2026 0 1 TPK1 nsv889380 7 143985727 144050810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511974 S 6533 0 1 TPK1 SP55219 esv2490376 7 143991731 143993341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190963 S 1 0 1 TPK1 NA18507 esv2495468 7 144012987 144014545 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193827 S 1 0 1 TPK1 NA18507 esv2000498 7 144013494 144014023 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4838060 S 1 0 1 TPK1 NA18507 esv3000 7 144013645 144013913 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25441 S 1 0 1 Single Asian sample YH TPK1 YH esv1057651 7 144013693 144013841 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677907 S 2 0 1 TPK1 HuRef nsv528077 7 144064280 144081602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704613 S 2026 0 1 TPK1 esv2397451 7 144073185 144073588 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827192 S 1 0 1 TPK1 NA18507 esv1481912 7 144109164 144109164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606602 S 2 1 0 TPK1 HuRef dgv136n17 7 144111482 144117434 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437580,nsv437581 M 60 0 2 TPK1 NA18854,NA19205 esv274922 7 144116422 144130394 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585646,essv2586070 M 1250 1 1 TPK1 nsv5989 7 144292879 144325481 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6178 S 9 1 0 "" NA12156 esv21794 7 144344352 144344840 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17817 S 451 0 1 "" NA12287 esv2425346 7 144347071 144348560 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203972 S 1 0 1 "" NA18507 esv1727455 7 144347578 144348008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884813 S 2 0 1 "" HuRef esv999137 7 144400403 144407113 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565394 S 3 0 1 "" HuRef esv22602 7 144401209 144406086 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14484 S 451 0 4 "" NA12287,NA12414,NA12489,NA12749 esv997125 7 144401298 144404582 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586668 S 3 0 1 "" HuRef esv1008059 7 144402933 144404799 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586869 S 3 0 1 "" HuRef esv270333 7 144440236 144440321 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514569 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv831179 7 144461010 144629784 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446788 S 95 1 0 "" dgv433n21 7 144471657 144476528 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517858,nsv527030 M 2026 0 2 "" nsv819161 7 144513490 144517631 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419609 S 2 1 0 "" AK1 esv1007031 7 144547179 144552496 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565702 S 3 0 1 "" HuRef nsv365422 7 144547815 144552331 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384000 M 24 "" dgv1141n67 7 144547893 144552334 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824363,nsv824366 M 31 0 2 "" AK16,NA18547 dgv176e180 7 144547893 144552349 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1003553,esv1005777 M 3 0 1 "" HuRef esv23980 7 144547926 144552516 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15162 S 451 0 4 "" NA12006,NA12287,NA12489,NA12749 nsv522818 7 144645732 144649660 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698466 S 2026 0 1 "" esv267718 7 144784111 144784456 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514860,essv2518176 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12872 esv269592 7 144852233 144852521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496879,essv2493296,essv2494800,essv2508993,essv2500908,essv2504746,essv2506978,essv2506562,essv2512101,essv2501871,essv2498108 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18504,NA18519,NA18522,NA18856,NA19099,NA19102,NA19108,NA19238,NA19239,NA19240 esv273812 7 144852234 144852564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580922,essv2579338,essv2579415 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv889381 7 144883150 145010828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587928 S 6533 1 0 "" IS38138 nsv831180 7 144894839 145056778 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446789 S 95 0 1 "" esv29900 7 144899608 144900107 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13244 S 451 0 1 "" NA19099 nsv889382 7 144917466 145010828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584572 S 6533 0 1 "" IS37065 nsv507425 7 144939115 144945115 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621895 S 4 1 0 "" NA10860 nsv824367 7 144939284 144944814 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432162 S 31 1 0 "" AK20 nsv511996 7 145014815 145016977 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624541 S 1 0 1 "" 1 esv267881 7 145016172 145016543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494168 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv889383 7 145027074 145180503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552851 S 6533 0 1 "" MS19634 nsv831182 7 145030739 145187422 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446790 S 95 0 1 "" esv5839 7 145119799 145119898 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28280 S 1 1 0 "" SJK esv2102367 7 145129955 145130382 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4930648 S 1 0 1 "" NA18507 nsv5990 7 145136317 145171163 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3591 S 9 1 0 "" NA12878 nsv889384 7 145172716 145870478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547436 S 6533 1 0 CNTNAP2 MS17375 esv269712 7 145221880 145222202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526227,essv2550648,essv2559682,essv2575204 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12155,NA12776,NA19102 nsv889385 7 145248562 145434028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526600 S 6533 0 1 "" SP57670 nsv5991 7 145251374 145283234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5030 S 9 1 0 "" NA19129 nsv527435 7 145348483 145362936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703875 S 2026 0 1 "" nsv465185 7 145425012 145430615 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541038 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00931 nsv889386 7 145476351 145566361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518455 S 6533 0 1 CNTNAP2 SP57599 nsv889387 7 145534795 145870478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537420 S 6533 1 0 CNTNAP2 MS13205 nsv5992 7 145553677 145598353 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8443 S 9 0 1 CNTNAP2 NA12156 esv6241 7 145600469 145600570 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28682 S 1 1 0 CNTNAP2 SJK nsv5993 7 145601562 145646909 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6179 S 9 0 1 CNTNAP2 NA12156 nsv889388 7 145629044 145713890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538536 S 6533 0 1 CNTNAP2 MS13759 nsv524528 7 145629044 145717255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700477 S 2026 0 1 CNTNAP2 nsv889389 7 145629044 145752472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520505 S 6533 0 1 CNTNAP2 SP51105 esv1388043 7 145718971 145718971 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031146 S 2 1 0 CNTNAP2 HuRef nsv889390 7 145741967 145870478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536111 S 6533 0 1 CNTNAP2 MS12630 nsv5994 7 145762910 145782217 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9912 S 9 0 1 CNTNAP2 NA18507 esv2522287 7 145764074 145771032 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340559 S 1 0 1 CNTNAP2 NA18507 esv2028241 7 145764533 145770632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722272 S 1 0 1 CNTNAP2 NA18507 esv2491993 7 145764539 145770784 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198203 S 1 0 1 CNTNAP2 NA18507 esv21898 7 145764684 145770591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12522 S 451 0 4 CNTNAP2 NA18517,NA18916,NA19114,NA19190 nsv514456 7 145764784 145770336 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627915 S 1414 0 1 CNTNAP2 esv2421508 7 145764800 145770841 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5155460,essv5134938,essv5048707,essv5157666,essv5122475,essv5036460,essv5069755,essv5011590,essv5025916,essv5021051,essv5149240,essv5068418,essv5090541,essv5024078,essv5024448,essv5125119,essv5107867,essv5016862,essv5138679,essv5144312,essv5097948,essv5060344,essv5136120,essv5144015,essv5079496 M 1184 0 25 CNTNAP2 NA18489,NA18499,NA18507,NA18516,NA18517,NA18857,NA18914,NA18916,NA18933,NA19093,NA19114,NA19137,NA19139,NA19172,NA19182,NA19191,NA19223,NA19324,NA19382,NA19428,NA19456,NA19714,NA20342,NA20343,NA21352 nsv442075 7 145764800 145770841 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CNTNAP2 nsv889391 7 145799351 146020192 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574887,nssv1582472 M 6533 0 2 CNTNAP2 IS33665,IS35968 nsv465186 7 145823810 145885593 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541039 S 1557 1 0 CNTNAP2 NINDS_197 nsv515777 7 145856381 145885593 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691783,nssv681860,nssv690718,nssv683717,nssv693117,nssv680401,nssv675650,nssv678740,nssv664746,nssv669873,nssv678409,nssv660855,nssv668863,nssv690052,nssv659316 M 2026 5 10 CNTNAP2 dgv843n27 7 145856381 145888254 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465187,nsv465188,nsv465189,nsv465190 M 1557 4 0 CNTNAP2 1780854296_A,1780854393_A,1780862260_A,HGDP01058 esv1148307 7 145863137 145863137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185356 S 2 1 0 CNTNAP2 HuRef esv1314998 7 145863147 145863147 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740484 S 2 1 0 CNTNAP2 HuRef nsv889392 7 145923021 146077700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573686 S 6533 0 1 CNTNAP2 IS33491 nsv526330 7 145973255 146002114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702620 S 2026 0 1 CNTNAP2 nsv889393 7 145984552 146059148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600367 S 6533 0 1 CNTNAP2 IS41874 nsv889394 7 145995110 146095898 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503774 S 6533 0 1 CNTNAP2 SP52110 nsv824368 7 145997426 145998590 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426788 S 31 1 0 CNTNAP2 AK6 esv27243 7 145997505 146002690 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18454 S 451 2 0 CNTNAP2 NA11993,NA19099 esv270701 7 146003780 146004134 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496838,essv2496539,essv2506306,essv2505245,essv2507134,essv2495628 M 157 6 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA18498,NA18510,NA18523,NA18853,NA18870,NA18916 nsv470397 7 146020192 146051504 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546921 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTNAP2 HGDP00947 esv271866 7 146020981 146021465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514848 S 157 1 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA12234 esv271881 7 146034099 146034281 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494790,essv2501362,essv2510386 M 157 3 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA18519,NA19093,NA19172 nsv525283 7 146037312 146044430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701387 S 2026 0 1 CNTNAP2 esv1669432 7 146040308 146040308 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995351 S 2 1 0 CNTNAP2 HuRef nsv5995 7 146059864 146081571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3592 S 9 1 0 CNTNAP2 NA12878 nsv522917 7 146077700 146325374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698578 S 2026 0 1 CNTNAP2 nsv521212 7 146168694 146177942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697848 S 2026 0 1 CNTNAP2 nsv818568 7 146168694 146203209 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418473 S 112 0 1 CNTNAP2 NA19193 nsv517352 7 146170289 146170343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679865,nssv660806,nssv674692,nssv658463,nssv674915,nssv675802,nssv653864 M 2026 0 7 CNTNAP2 nsv818569 7 146170289 146173920 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418162,nssv1418163 M 112 0 2 CNTNAP2 NA19143,NA19145 esv2524864 7 146170444 146171990 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5213866 S 1 0 1 CNTNAP2 NA18507 nsv507426 7 146199698 146205698 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621896 S 4 1 0 CNTNAP2 NA10860 nsv523284 7 146201893 146217389 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699023 S 2026 0 1 CNTNAP2 nsv519590 7 146202116 146221083 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696939 S 2026 1 0 CNTNAP2 nsv522426 7 146382568 146385387 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705779 S 2026 1 0 CNTNAP2 esv1726659 7 146412403 146412403 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346305 S 2 1 0 CNTNAP2 HuRef nsv889395 7 146479184 146600322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532337 S 6533 0 1 CNTNAP2 MS10764 nsv889396 7 146485066 146666000 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595526 S 6533 1 0 CNTNAP2 IS40245 nsv521548 7 146498272 146502846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698163 S 2026 0 1 CNTNAP2 nsv5996 7 146536632 146581618 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8444 S 9 0 1 CNTNAP2 NA12156 esv33975 7 146599373 146622269 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101395 S 51 0 1 CNTNAP2 21805 esv999216 7 146638434 146639622 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586806 S 3 1 0 CNTNAP2 HuRef nsv526693 7 146642321 146685183 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703030 S 2026 1 0 CNTNAP2 dgv177e180 7 146642379 146643459 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1005642,esv1001897 M 3 0 1 CNTNAP2 HuRef esv26187 7 146642455 146644108 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11428 S 451 0 2 CNTNAP2 NA11993,NA12776 dgv1142n67 7 146651968 146652564 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824369,nsv824371,nsv824370 M 31 0 14 CNTNAP2 AK14,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18582,NA18942,NA18949,NA18951,NA18968,NA18997 esv1003793 7 146652027 146652564 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587079 S 3 1 0 CNTNAP2 HuRef nsv5997 7 146692572 146722966 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv693 S 9 1 0 CNTNAP2,MIR548F4 NA19240 esv270321 7 146711025 146711409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496836,essv2495706,essv2499768,essv2501918,essv2502124 M 157 5 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA18498,NA18916,NA19225,NA19239,NA19257 esv273229 7 146711060 146711363 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579160 S 7 1 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA19239 nsv517892 7 146727119 146728291 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695300 S 2026 1 0 CNTNAP2 esv22733 7 146733783 146735042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19143 S 451 0 1 CNTNAP2 NA18909 esv22430 7 146825443 146826087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15215 S 451 0 1 CNTNAP2 NA12044 nsv824372 7 146825767 146826381 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436757 S 31 0 1 CNTNAP2 NA18542 esv272196 7 146833336 146833662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581723,essv2582577,essv2582919 M 7 3 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA12878,NA12891,NA12892 esv270385 7 146833339 146833665 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540094,essv2520907,essv2557402,essv2569486,essv2578736,essv2562351,essv2539266,essv2529462,essv2575657,essv2574927,essv2572618,essv2571110,essv2574106 M 157 13 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA18489,NA18498,NA18499,NA18508,NA18510,NA18909,NA18912,NA19093,NA19099,NA19138,NA19143,NA19238,NA19240 esv22075 7 146902381 146916078 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19066,esv20953 M 451 6 0 CNTNAP2 NA11894,NA12156,NA12749,NA15510,NA18858,NA18907 nsv365559 7 146903157 146903209 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384137 M 24 CNTNAP2 nsv507427 7 146949228 146955228 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623023 S 4 1 0 CNTNAP2 NA18994 dgv434n21 7 146968675 146991750 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516942,nsv527018 M 2026 0 5 CNTNAP2 nsv824373 7 147047330 147048054 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421820 S 31 0 1 CNTNAP2 NA18997 esv275461 7 147058690 147067020 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585682 S 1250 0 1 CNTNAP2 nsv510119 7 147065291 147071291 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622149,nssv618276,nssv624052,nssv621326 M 4 0 4 CNTNAP2 CHM,NA10860,NA15510,NA18994 nsv889397 7 147102643 147216752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529096 S 6533 0 1 CNTNAP2 SP81448 nsv366964 7 147103256 147103309 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385542 M 24 CNTNAP2 nsv365313 7 147103330 147103437 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383891 M 24 CNTNAP2 nsv465193 7 147143552 147214613 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541044 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTNAP2 HGDP00822 esv2614694 7 147146260 147147607 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317191 S 1 0 1 CNTNAP2 NA18507 nsv889398 7 147200528 147219701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540580 S 6533 0 1 CNTNAP2 MS14920 esv270463 7 147216690 147217019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565627,essv2575898,essv2541002,essv2568119,essv2523190,essv2570748,essv2550729,essv2550455,essv2552087,essv2547243,essv2558365,essv2564290,essv2554878,essv2561865,essv2537210,essv2528226,essv2546754,essv2523718,essv2538412,essv2542757,essv2524360,essv2519535,essv2522219,essv2566024,essv2531144,essv2532692,essv2567548,essv2569968,essv2535897,essv2534061,essv2555602,essv2527668,essv2557756,essv2522654,essv2543064,essv2525577,essv2549103,essv2533055,essv2554755 M 157 39 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA07037,NA07051,NA07346,NA11829,NA11830,NA11831,NA11995,NA12004,NA12044,NA12155,NA12234,NA12489,NA12717,NA12750,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18537,NA18547,NA18550,NA18555,NA18566,NA18571,NA18572,NA18573,NA18576,NA18582,NA18593,NA18608,NA18916,NA18945,NA18952,NA18953,NA18960,NA18965,NA18980 esv272410 7 147216690 147217019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582144,essv2582460,essv2583172 M 7 3 0 Samples from several populations that are part of the HapMap project. CNTNAP2 NA12878,NA12891,NA12892 dgv7528n71 7 147274856 147343404 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889399,nsv889400 M 6533 0 2 CNTNAP2,MIR548T MS20710,MS21814 nsv523350 7 147318098 147318814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699099 S 2026 0 1 CNTNAP2,MIR548T esv268420 7 147335295 147335380 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517179 S 157 1 0 Samples from several populations that are part of the HapMap project. CNTNAP2,MIR548T NA18970 esv1335099 7 147335334 147335334 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674003 S 2 1 0 CNTNAP2,MIR548T HuRef esv2558199 7 147357756 147359244 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168210 S 1 0 1 CNTNAP2,MIR548T NA18507 nsv366532 7 147486267 147492636 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385110 M 24 CNTNAP2,MIR548T nsv428189 7 147516458 147682159 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451349,nssv451348 M 62 0 2 CNTNAP2,MIR548T NA19113,NA19189 nsv509223 7 147575307 147669406 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623519 S 4 1 0 CNTNAP2,MIR548T NA18994 nsv366677 7 147622076 147624570 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385255 M 24 CNTNAP2,MIR548T nsv5998 7 147634092 147666381 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv694 S 9 1 0 CNTNAP2,MIR548T NA19240 esv2313395 7 147658067 147658962 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519320 S 1 0 1 CNTNAP2,MIR548T NA18507 esv6780 7 147659384 147659639 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29221 S 1 0 1 CNTNAP2,MIR548T SJK esv1524405 7 147659710 147659710 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838709 S 2 1 0 CNTNAP2,MIR548T HuRef esv1283707 7 147659806 147659806 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339269 S 2 1 0 CNTNAP2,MIR548T HuRef nsv6000 7 147671086 147714807 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6180 S 9 0 1 CNTNAP2,MIR548T NA12156 nsv819325 7 147683028 147684310 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419223 S 2 0 1 CNTNAP2 AK1 esv1417163 7 147694014 147694208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341843 S 2 0 1 CNTNAP2 HuRef nsv511371 7 147700415 147711580 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625975 S 1 0 1 CNTNAP2 1 nsv436545 7 147702495 147707314 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466415 S 2 0 1 Samples from several populations that are part of the HapMap project. CNTNAP2 NA18505 esv993123 7 147702685 147708348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565190 S 3 0 1 CNTNAP2 HuRef nsv511997 7 147703690 147707359 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624542 S 1 0 1 CNTNAP2 1 esv4983 7 147703752 147707308 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27424 S 1 0 1 Single Asian sample YH CNTNAP2 YH nsv499446 7 147703796 147707260 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586056 S 9 0 1 CNTNAP2 nsv366797 7 147703797 147707256 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385375 M 24 CNTNAP2 esv991390 7 147703798 147707257 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576768 S 3 0 1 CNTNAP2 HuRef esv7713 7 147703818 147707279 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30154 S 1 0 1 CNTNAP2 SJK dgv1143n67 7 147703911 147707263 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824378,nsv824379,nsv824377,nsv824374,nsv824375,nsv824382 M 31 0 20 CNTNAP2 AK10,AK12,AK14,AK16,AK18,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18592,NA18942,NA18947,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 nsv820722 7 147703911 147707263 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420705 S 1 0 1 CNTNAP2 NA10851 nsv819835 7 147703939 147707355 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419538 S 2 1 0 CNTNAP2 AK1 esv26161 7 147704059 147707263 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11910 S 451 28 0 CNTNAP2 NA06985,NA07037,NA11931,NA11993,NA11995,NA12006,NA12044,NA12287,NA12414,NA12776,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 dgv1144n67 7 147704152 147706162 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824381,nsv824380 M 31 0 7 CNTNAP2 AK2,AK20,AK4,AK6,AK8,NA18566,NA18949 nsv514457 7 147704160 147707296 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627916 S 1414 0 1 CNTNAP2 esv32966 7 147704229 147707190 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101578,essv101525,essv98759,essv101104,essv101259,essv100633,essv101089,essv101034,essv95204,essv95207,essv94034,essv94005,essv96915,essv97045,essv95412,essv93166,essv93017,essv95318,essv95259,essv97388,essv95778,essv95798,essv98963,essv99041,essv92863,essv92887,essv92726,essv93653,essv93778,essv96692,essv96724,essv97179,essv97187,essv99808,essv99842,essv93333,essv93385,essv92638,essv92585,essv97975,essv98014,essv96545,essv96551,essv97666,essv100319,essv99427,essv98473,essv98440,essv96411,essv96299,essv94189 M 51 0 30 CNTNAP2 21603,21606,21618,21656,21693,21721,21802,21817,21847,21863,21872,21879,21911,21938,21939,21944,21972,22011,22075,22086,22170,22233,22259,22261,22278,22300,22335,22352,22371,22394 nsv824383 7 147705602 147707249 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425081,nssv1437538,nssv1427587,nssv1435956 M 31 0 4 CNTNAP2 AK2,AK8,NA18566,NA18949 dgv1145n67 7 147705917 147707249 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824385,nsv824386,nsv824384 M 31 0 3 CNTNAP2 AK4,AK6,NA18582 esv2441804 7 147737325 147738816 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231302 S 1 0 1 CNTNAP2 NA18507 esv1309761 7 147737797 147737931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267484 S 2 0 1 CNTNAP2 HuRef esv1961157 7 147742368 147742774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4894696 S 1 0 1 CNTNAP2 NA18507 nsv527436 7 147750629 147774375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703876 S 2026 0 1 "" nsv520711 7 147770332 147787436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697569 S 2026 0 1 "" esv271440 7 147809539 147809624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517412,essv2517646,essv2516181,essv2519481,essv2513707 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11918,NA12878,NA12891 esv272402 7 147809545 147809818 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584235,essv2583313 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv519189 7 147887487 147911638 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694314 S 2026 0 1 "" nsv526993 7 147937882 147939112 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703367 S 2026 1 0 C7orf33 esv1051168 7 147945138 147945138 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3643971 S 2 1 0 "" HuRef esv1206136 7 147975991 147976127 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835483 S 2 0 1 "" HuRef nsv522272 7 148004289 148025528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695053 S 2026 0 1 "" esv21729 7 148026740 148027810 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18289 S 451 0 1 CUL1 NA07045 nsv518186 7 148050417 148053514 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695609 S 2026 0 1 CUL1 esv2386698 7 148069500 148069893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757699 S 1 0 1 CUL1 NA18507 nsv528653 7 148093110 148099550 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705287 S 2026 0 1 CUL1 nsv465194 7 148093110 148133102 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541045 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CUL1 HGDP00669 nsv522305 7 148099550 148139130 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695087 S 2026 0 1 CUL1,EZH2 nsv522985 7 148132636 148132691 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698655 S 2026 0 1 "" nsv831183 7 148138197 148316091 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446792,nssv1446791 M 95 0 2 EZH2 esv1004063 7 148160724 148161385 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565515 S 3 1 0 EZH2 HuRef esv259486 7 148197122 148197889 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394050,essv2394283 M 6 0 0 Samples from several populations that are part of the HapMap project. EZH2 NA19239,NA19240 esv259894 7 148197129 148197927 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397618,essv2394734,essv2395242,essv2399897,essv2397814,essv2394968,essv2397465,essv2396155,essv2398434,essv2397894,essv2398237,essv2400676,essv2397023,essv2400537 M 144 0 0 Samples from several populations that are part of the HapMap project. EZH2 NA18489,NA18498,NA18499,NA18504,NA18505,NA18511,NA18520,NA18523,NA18871,NA18907,NA18909,NA18912,NA19239,NA19240 nsv519634 7 148220802 148273938 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696962 S 2026 1 0 "" nsv889401 7 148231243 148311922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581401 S 6533 0 1 "" IS35572 esv2635139 7 148263840 148264789 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235044 S 1 1 0 "" NA18507 esv1090180 7 148264280 148264280 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916781 S 2 1 0 "" HuRef nsv524408 7 148292435 148304298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700328 S 2026 0 1 "" nsv528358 7 148292435 148368310 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704943 S 2026 0 1 PDIA4 nsv366077 7 148319086 148326107 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384655 M 24 "" nsv889402 7 148351839 148629893 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546641 S 6533 0 1 LOC155060,PDIA4,ZNF212,ZNF282,ZNF398,ZNF425,ZNF783,ZNF786 MS17208 esv999217 7 148360676 148362419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565022 S 3 0 1 "" HuRef esv2458810 7 148448831 148450371 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319091 S 1 0 1 ZNF425 NA18507 esv2396942 7 148448921 148449592 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939109 S 1 0 1 ZNF425 NA18507 esv1422572 7 148449123 148449434 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830911 S 2 0 1 ZNF425 HuRef esv7630 7 148449127 148449469 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30071 S 1 0 1 ZNF425 SJK nsv518773 7 148516810 148553599 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696224 S 2026 0 1 ZNF282 nsv465196 7 148521024 148578212 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541047 S 1557 0 1 ZNF212,ZNF282 1780862101_A esv992747 7 148562018 148562098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577956 S 3 0 1 "" HuRef esv1607248 7 148562058 148562139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085634 S 2 0 1 "" HuRef nsv819456 7 148582356 148582896 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418996 S 2 1 0 ZNF212 AK1 nsv6001 7 148594524 148626658 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3593 S 9 0 1 LOC155060,ZNF783 NA12878 esv1004074 7 148618739 148630964 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565049 S 3 0 0 LOC155060 HuRef esv1005338 7 148643638 148659342 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563841 S 3 0 0 "" HuRef nsv524496 7 148693925 148695270 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700435 S 2026 1 0 "" esv1006609 7 148718321 148719044 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563487 S 3 1 0 "" HuRef esv270919 7 148736546 148736631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514552,essv2515397 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12249 esv28225 7 148787612 148788669 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11971 S 451 0 1 ZNF777 NA07045 esv1501017 7 148882860 148882860 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612449 S 2 1 0 ZNF767 HuRef esv2519094 7 149007580 149008886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341147 S 1 0 1 "" NA18507 nsv469576 7 149010559 149194166 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649689 M 265 0 0 Samples from several populations that are part of the HapMap project. KRBA1,SSPO,ZNF467,ZNF862 nsv824388 7 149022475 149027866 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432166 S 31 1 0 "" AK20 nsv831184 7 149055768 149231026 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446793 S 95 1 0 ATP6V0E2,KRBA1,LOC401431,SSPO,ZNF467,ZNF862 dgv2151e1 7 149072523 149587348 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1908,essv43,essv6245,esv708,essv1610 M 271 0 0 ACTR3C,ATP6V0E2,LOC401431,SSPO,ZNF467,ZNF862 NA18636,NA18942,NA18976,NA18991 dgv844n27 7 149087292 149115992 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465203,nsv465204 M 1557 0 2 SSPO,ZNF467 1782681313_A,HGDP01163 dgv7529n71 7 149087292 149140914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889403,nsv889410,nsv889405,nsv889404 M 6533 0 4 SSPO,ZNF467 IS33684,IS37646,SP54956,SP54988 nsv517242 7 149087292 149167147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683294,nssv679912,nssv685132,nssv662782,nssv682006,nssv655050,nssv689006,nssv664620,nssv663453,nssv654765,nssv654110,nssv666660,nssv661526,nssv683093,nssv677707,nssv662303,nssv692721 M 2026 0 17 SSPO,ZNF467,ZNF862 dgv7530n71 7 149089556 149170071 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889412,nsv889411,nsv889408,nsv889406,nsv889407 M 6533 0 10 SSPO,ZNF467,ZNF862 IS32737,IS32841,IS33504,IS35484,IS37172,IS39417,MS10311,MS13770,MS16315,MS18276 nsv521861 7 149089556 149213839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694635 S 2026 0 1 ATP6V0E2,LOC401431,SSPO,ZNF467,ZNF862 nsv889409 7 149089556 149216312 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543508 S 6533 0 1 ATP6V0E2,LOC401431,SSPO,ZNF467,ZNF862 MS16153 esv1010383 7 149106583 149119493 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565407 S 3 0 1 SSPO HuRef nsv824389 7 149114498 149115326 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436759 S 31 1 0 SSPO NA18542 esv1058616 7 149157626 149158111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350803 S 2 0 1 SSPO HuRef dgv2152e1 7 149177636 149536980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2380,essv3648,essv6486 M 271 0 0 ATP6V0E2,LOC401431,ZNF862 NA18636,NA18976,NA18991 nsv889413 7 149178636 149241714 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543131,nssv1505369,nssv1562460,nssv1526734 M 6533 4 0 ATP6V0E2,LOC401431,ZNF862 MS16055,MS25603,SP53440,SP57736 dgv7531n71 7 149178636 149289190 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889417,nsv889434,nsv889418,nsv889425,nsv889426,nsv889430,nsv889429,nsv889416,nsv889414,nsv889415 M 6533 17 0 ATP6V0E2,LOC401431,ZNF862 MS12684,MS16411,MS24374,MS26120,SP50783,SP50896,SP50973,SP50997,SP52908,SP54766,SP55567,SP56731,SP56795,SP57137,SP57273,SP58026,SP58031 dgv7532n71 7 149178636 149331459 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889427,nsv889431,nsv889420,nsv889419 M 6533 4 0 ATP6V0E2,LOC401431,ZNF862 SP50017,SP52455,SP55698,SP56830 dgv7533n71 7 149178636 149407536 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889422,nsv889421 M 6533 2 0 ATP6V0E2,LOC401431,ZNF862 SP53256,SP54370 dgv7534n71 7 149178636 149511195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889432,nsv889424,nsv889423,nsv889428,nsv889433 M 6533 8 0 ATP6V0E2,LOC401431,ZNF862 IS34358,MS25669,SP50537,SP52859,SP53894,SP56267,SP56734,SP57270 nsv8229 7 149180720 149513496 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16978,nssv19364,nssv16956,nssv18583,nssv16623,nssv15592,nssv15714,nssv20010,nssv16225,nssv19394 M 31 6 4 Samples from several populations that are part of the HapMap project. ATP6V0E2,LOC401431,ZNF862 NA07048,NA10863,NA18504,NA18517,NA18942,NA18975,NA18980,NA19144,NA19221 nsv519323 7 149182926 149213839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693646,nssv692904,nssv655413,nssv674548 M 2026 0 4 ATP6V0E2,LOC401431,ZNF862 dgv845n27 7 149182926 149216312 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465209,nsv465205,nsv465210,nsv465207,nsv465208 M 1557 5 0 ATP6V0E2,LOC401431,ZNF862 HGDP00753,HGDP00817,HGDP00960,HGDP00973,HGDP01102 esv1920108 7 149191150 149191592 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4651489 S 1 0 1 ZNF862 NA18507 nsv831185 7 149192038 149350592 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446794 S 95 1 0 ATP6V0E2,LOC401431,ZNF862 nsv365614 7 149193968 149194051 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384192 M 24 ZNF862 nsv471647 7 149199122 149440660 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550533,nssv550528,nssv550527,nssv550534 M 48 2 0 ATP6V0E2,LOC401431 NA17015,NA17058 esv2386076 7 149206696 149207205 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729431 S 1 0 1 ATP6V0E2 NA18507 esv4455 7 149206800 149207100 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26896 S 1 0 1 Single Asian sample YH ATP6V0E2 YH esv1009171 7 149206862 149207026 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580904 S 3 0 1 ATP6V0E2 HuRef nsv889435 7 149216312 149644326 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592653 S 6533 1 0 ACTR3C IS39243 nsv824390 7 149233806 149261668 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435198 S 31 1 0 "" NA18942 dgv7535n71 7 149241714 149417029 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889436,nsv889437 M 6533 2 0 "" IS31169,SP52986 dgv7536n71 7 149289190 149488491 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889442,nsv889438,nsv889440,nsv889443 M 6533 5 0 "" IS31218,IS31554,IS38148,IS38463,IS41204 dgv7537n71 7 149298203 149436984 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889441,nsv889439 M 6533 5 0 "" IS30490,IS31369,IS31553,IS32015,IS38993 nsv831186 7 149299327 149440660 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446796 S 95 1 0 "" dgv2153e1 7 149299327 149497520 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7374,essv4520 M 271 0 0 "" NA18623 esv33919 7 149309917 149383517 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100807,essv93703 M 51 2 0 "" 21656,21972 esv4793 7 149319843 149320212 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27234 S 1 0 1 Single Asian sample YH "" YH esv1060680 7 149320003 149320143 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605053 S 2 0 1 "" HuRef esv2591049 7 149350896 149374418 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262743 S 1 0 1 "" NA18507 dgv7538n71 7 149351785 149488491 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889444,nsv889445,nsv889447 M 6533 5 0 "" IS30532,IS31576,IS31904,MS16055,MS16411 nsv889446 7 149353521 149436984 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512640 S 6533 1 0 "" SP55567 nsv6002 7 149359623 149396145 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3594 S 9 0 1 "" NA12878 esv2296211 7 149363091 149363773 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804537 S 1 0 1 "" NA18507 esv7526 7 149363281 149363450 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29967 S 1 0 1 "" SJK esv1586898 7 149365762 149365843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4349155 S 2 0 1 "" HuRef nsv499519 7 149368032 149369635 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585637 S 9 0 1 "" dgv7539n71 7 149371935 149511195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889448,nsv889450 M 6533 3 0 "" MS23057,MS24374,SP50896 dgv7540n71 7 149394699 149475572 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889449,nsv889451 M 6533 2 0 "" SP50783,SP52455 nsv442076 7 149425988 149435586 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv889452 7 149469304 149634141 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531519 S 6533 1 0 ACTR3C MS10515 esv28739 7 149478575 149479461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17379 S 451 0 1 "" NA07045 nsv6003 7 149489269 149518756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5031 S 9 0 1 "" NA19129 nsv510120 7 149490077 149496077 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618277 S 4 0 1 "" CHM esv26358 7 149493466 149513725 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11909 S 451 0 8 "" NA18505,NA18517,NA18907,NA18909,NA19099,NA19114,NA19129,NA19190 nsv499609 7 149493773 149512897 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586057 S 9 0 1 "" nsv514458 7 149495392 149512864 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627917 S 1414 0 0 "" nsv508490 7 149637001 149682174 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620002 S 4 0 1 ACTR3C,C7orf29,LRRC61,RARRES2 NA15510 dgv7541n71 7 149640771 149746116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889456,nsv889457,nsv889455,nsv889453,nsv889454,nsv889458 M 6533 0 8 ACTR3C,C7orf29,LOC728743,LRRC61,RARRES2,REPIN1,ZNF775 IS32322,IS32737,IS33178,IS35484,IS37646,IS38538,MS10311,MS10698 dgv435n21 7 149651228 149667597 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516052,nsv518774 M 2026 0 58 ACTR3C,C7orf29,LRRC61,RARRES2 nsv521407 7 149651228 149749523 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698017 S 2026 0 1 ACTR3C,C7orf29,LOC728743,LRRC61,RARRES2,REPIN1,ZNF775 nsv889459 7 149672543 149702397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509326 S 6533 0 1 REPIN1 SP54782 esv275249 7 149689184 149691096 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585587,essv2585786 M 1250 1 1 "" dgv7542n71 7 149691096 149712418 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889461,nsv889460 M 6533 0 3 REPIN1,ZNF775 SP54042,SP55019,SP81010 nsv889462 7 149691096 149739469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508449,nssv1511391 M 6533 0 2 LOC728743,REPIN1,ZNF775 SP54672,SP55021 esv2392928 7 149713321 149713714 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760850 S 1 0 1 ZNF775 NA18507 nsv518150 7 149771624 149771695 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695571 S 2026 0 1 LOC285972 nsv437033 7 149859628 149876921 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466914 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10855 dgv2154e1 7 149864760 149877917 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24538,esv1146 M 271 0 0 "" NA11831 nsv438012 7 149864974 149870219 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469579,nssv469578 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10855,NA11831 esv29812 7 149880245 149943776 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13954,esv16529 M 451 2 0 GIMAP4 NA12828,NA12878 dgv2155e1 7 149882882 150094737 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1530,esv33 M 271 0 0 GIMAP1,GIMAP1-GIMAP5,GIMAP2,GIMAP4,GIMAP5,GIMAP6,LOC100128542 NA18980 nsv442238 7 149916734 149932502 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv511998 7 149930214 149937912 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624543 S 1 0 1 "" 1 esv1005919 7 149930767 149937741 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564762 S 3 0 1 "" HuRef nsv436546 7 149931990 149938943 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466416 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv831187 7 149956846 150134433 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446797 S 95 0 1 GIMAP1,GIMAP1-GIMAP5,GIMAP2,GIMAP5,GIMAP6,LOC100128542,TMEM176A,TMEM176B esv29573 7 149977210 149978103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20721 S 451 0 1 "" NA19240 nsv824391 7 150070226 150070797 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424325 S 31 1 0 GIMAP1-GIMAP5,GIMAP5 NA18582 dgv1146n67 7 150070294 150070797 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824393,nsv824392 M 31 0 2 GIMAP1-GIMAP5,GIMAP5 AK20,NA18592 esv5065 7 150093949 150094540 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27506 S 1 0 1 Single Asian sample YH LOC100128542 YH nsv522859 7 150107821 150117102 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698514 S 2026 0 1 LOC100128542 esv2750627 7 150115970 150116828 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92826 S 51 1 0 LOC100128542 21944 nsv519444 7 150117991 150119401 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696857 S 2026 0 1 LOC100128542,TMEM176B dgv2156e1 7 150169754 150294630 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17547,esv488 M 271 0 0 ABP1,KCNH2 NA12762 esv32879 7 150184082 150204628 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95641 S 51 0 1 ABP1 21841 nsv523701 7 150189332 150191255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699509 S 2026 0 1 "" nsv8230 7 150196619 150205200 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17348 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12155 nsv442077 7 150196889 150203370 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv271582 7 150213160 150213517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514727,essv2517794,essv2516921 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12878,NA12892 esv272670 7 150213168 150213519 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581699,essv2582534,essv2582786 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv465213 7 150237221 150298143 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541056 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNH2 HGDP01027 dgv7543n71 7 150271218 150331879 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889468,nsv889463,nsv889466 M 6533 0 3 KCNH2,NOS3 MS10311,SP54956,SP55021 dgv7544n71 7 150271218 150354400 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889467,nsv889464 M 6533 0 2 ATG9B,KCNH2,NOS3 IS33178,MS13095 nsv889465 7 150271218 150431756 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585871 S 6533 0 1 ABCB8,ACCN3,AGAP3,ATG9B,CDK5,FASTK,KCNH2,NOS3,SLC4A2,TMUB1 IS37646 nsv889469 7 150288142 150378679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582450 S 6533 1 0 ABCB8,ACCN3,ATG9B,KCNH2,NOS3 IS35954 nsv889470 7 150298143 150327044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510752 S 6533 0 1 KCNH2,NOS3 SP54988 nsv8231 7 150302300 150311947 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18613 S 31 1 0 Samples from several populations that are part of the HapMap project. KCNH2 NA18504 esv2061233 7 150306753 150307134 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990511 S 1 0 1 "" NA18507 nsv889471 7 150331879 150382523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543509 S 6533 0 1 ABCB8,ACCN3,ATG9B,CDK5,NOS3 MS16153 esv274999 7 150331943 150339022 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585132 S 1250 0 1 NOS3 nsv889472 7 150334347 150338770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500339 S 6533 0 1 NOS3 SP50159 nsv889473 7 150336346 150340504 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509906 S 6533 0 1 ATG9B,NOS3 SP54956 nsv889474 7 150336775 150348086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510753 S 6533 0 1 ATG9B,NOS3 SP54988 nsv526410 7 150345745 150406239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702710 S 2026 0 1 ABCB8,ACCN3,ATG9B,CDK5,FASTK,SLC4A2 nsv365674 7 150355397 150355449 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384252 M 24 "" nsv889475 7 150360145 150373633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530591 S 6533 0 1 ABCB8 MS10311 nsv889476 7 150360145 150582752 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549733 S 6533 0 1 ABCB8,ABCF2,ACCN3,AGAP3,ASB10,CDK5,CHPF2,FASTK,GBX1,MIR671,SLC4A2,SMARCD3,TMUB1 MS18276 nsv524928 7 150362631 150397732 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700941 S 2026 1 0 ABCB8,ACCN3,CDK5,SLC4A2 nsv889477 7 150362631 150468462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546642 S 6533 0 1 ABCB8,ACCN3,AGAP3,CDK5,FASTK,SLC4A2,TMUB1 MS17208 dgv7545n71 7 150363745 150522574 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889478,nsv889486 M 6533 0 2 ABCB8,ACCN3,AGAP3,ASB10,CDK5,FASTK,GBX1,SLC4A2,TMUB1 MS10311,SP54956 nsv831188 7 150366137 150543808 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446802,nssv1446799,nssv1446801,nssv1446800,nssv1446803,nssv1446798 M 95 0 6 ABCB8,ABCF2,ACCN3,AGAP3,ASB10,CDK5,FASTK,GBX1,SLC4A2,TMUB1 dgv7546n71 7 150367315 150428514 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889480,nsv889479 M 6533 0 2 ABCB8,ACCN3,AGAP3,CDK5,FASTK,SLC4A2,TMUB1 IS32737,IS39233 nsv517508 7 150393804 150406239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686321,nssv652227 M 2026 0 2 FASTK,SLC4A2 nsv465215 7 150393804 150456020 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541057 S 1557 0 1 AGAP3,FASTK,SLC4A2,TMUB1 1780862416_A nsv6004 7 150395939 150426878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv695 S 9 1 0 AGAP3,FASTK,SLC4A2,TMUB1 NA19240 dgv7547n71 7 150397732 150482499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889481,nsv889482 M 6533 0 2 AGAP3,FASTK,GBX1,SLC4A2,TMUB1 IS37172,MS16315 dgv7548n71 7 150404098 150419237 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889484,nsv889483,nsv889485 M 6533 0 3 AGAP3,FASTK,SLC4A2,TMUB1 SP54591,SP54988,SP55021 esv22632 7 150442549 150443899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17394,esv11573 M 451 0 3 AGAP3 NA07045,NA12239,NA18907 nsv527369 7 150453125 150456020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703801 S 2026 0 1 AGAP3 dgv436n21 7 150453125 150463846 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523930,nsv528732 M 2026 0 2 AGAP3 nsv889487 7 150553885 150619105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546643 S 6533 0 1 ABCF2,CHPF2,MIR671,SMARCD3 MS17208 nsv435860 7 150554605 150561668 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466418 S 2 0 1 ABCF2,CHPF2 NA15510 nsv889488 7 150557708 150586698 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509908 S 6533 0 1 CHPF2,MIR671,SMARCD3 SP54956 nsv465216 7 150582752 150622728 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541058 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SMARCD3 HGDP01283 nsv509225 7 150625465 150686741 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619501 S 4 1 0 NUB1 NA10860 esv4621 7 150641136 150641295 OTHER Inversion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27062 S 1 0 0 Single Asian sample YH "" YH esv8722 7 150641367 150642814 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31163 S 1 0 0 "" SJK esv2114303 7 150644431 150644808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630351 S 1 0 1 "" NA18507 esv4189 7 150688813 150689230 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26630 S 1 0 1 Single Asian sample YH NUB1 YH esv1609162 7 150688925 150689069 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632021 S 2 0 1 NUB1 HuRef nsv889489 7 150695805 150746624 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530593 S 6533 0 1 LOC100131176,NUB1,WDR86 MS10311 nsv6005 7 150715862 150724867 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3595 S 9 1 0 WDR86 NA12878 esv1308328 7 150725676 150725676 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642122 S 2 1 0 WDR86 HuRef nsv6006 7 150759950 150800880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8446,nssv3596 M 9 2 0 CRYGN,MIR3907,RHEB NA12156,NA12878 nsv831189 7 150780040 150950187 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446804 S 95 1 0 PRKAG2,RHEB nsv824394 7 150782645 150802313 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428404 S 31 1 0 RHEB AK10 nsv818570 7 150783598 150797185 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417632 S 112 1 0 RHEB NA18987 esv27029 7 150854113 150862575 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12850,esv19312 M 451 1 1 "" NA18909,NA19129 nsv6007 7 150855141 150872356 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5032 S 9 1 0 "" NA19129 esv2602265 7 150858896 150863364 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348298 S 1 0 1 "" NA18507 esv2535417 7 150860445 150863330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321756 S 1 0 1 "" NA18507 esv2219444 7 150861010 150862953 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784593 S 1 0 1 "" NA18507 nsv831190 7 150902645 151068334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446805 S 95 1 0 PRKAG2 esv2153242 7 150931043 150931749 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4852248 S 1 0 1 PRKAG2 NA18507 nsv465218 7 151009438 151027186 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541060 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKAG2 HGDP00655 nsv889490 7 151012133 151040413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546644 S 6533 0 1 PRKAG2 MS17208 nsv465219 7 151018130 151036751 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541061 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKAG2 HGDP00551 nsv520072 7 151018464 151029032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694077 S 2026 0 1 PRKAG2 nsv470398 7 151022942 151057038 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546932 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PRKAG2 HGDP00657 nsv889491 7 151033433 151080486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530594 S 6533 0 1 PRKAG2 MS10311 esv275366 7 151042071 151054129 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585997 S 1250 0 1 PRKAG2 esv2080091 7 151065786 151066367 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956833 S 1 0 1 PRKAG2 NA18507 esv34045 7 151081587 151119492 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 PRKAG2 nsv465220 7 151136023 151144215 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541062 S 1557 0 1 PRKAG2 1780854465_A nsv465221 7 151141670 151182726 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541063 S 1557 0 1 PRKAG2 1780862019_A esv4521 7 151148389 151148752 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26962 S 1 0 1 Single Asian sample YH PRKAG2 YH esv1001094 7 151148622 151148671 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573745 S 3 0 1 PRKAG2 HuRef esv259533 7 151148916 151149172 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394150,essv2393933,essv2393852,essv2393752,essv2393977,essv2394339 M 6 0 0 Samples from several populations that are part of the HapMap project. PRKAG2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259998 7 151148921 151149181 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400211,essv2397343,essv2401031,essv2396938,essv2395584,essv2397640,essv2396468,essv2399461,essv2394644,essv2397900,essv2398212,essv2397163,essv2397735,essv2398294,essv2399526,essv2396440,essv2397223,essv2395995,essv2397036,essv2400536 M 144 0 0 Samples from several populations that are part of the HapMap project. PRKAG2 NA07037,NA12878,NA12891,NA12892,NA18501,NA18502,NA18517,NA18858,NA18870,NA18907,NA18909,NA18951,NA18956,NA19093,NA19137,NA19138,NA19225,NA19238,NA19239,NA19240 nsv366572 7 151149027 151149027 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385150 M 24 PRKAG2 esv1048498 7 151149058 151149058 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600490 S 2 1 0 PRKAG2 HuRef dgv437n21 7 151151864 151164218 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522866,nsv520452 M 2026 0 2 PRKAG2 nsv889492 7 151164218 151201112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575052 S 6533 0 1 PRKAG2 IS33684 nsv465222 7 151172250 151197805 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541064 S 1557 0 1 PRKAG2 NINDS_50 nsv889493 7 151177796 151224150 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530595 S 6533 0 1 LOC100505483,PRKAG2 MS10311 esv4058 7 151182945 151183404 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26499 S 1 0 1 Single Asian sample YH PRKAG2 YH nsv365974 7 151182973 151183412 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384552 M 24 PRKAG2 nsv366635 7 151185427 151189546 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385213 M 24 PRKAG2 nsv889494 7 151187757 151529636 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557202 S 6533 1 0 GALNT11,GALNTL5,LOC100505483,MLL3,PRKAG2 MS22492 esv1009460 7 151213366 151222503 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564159 S 3 0 1 "" HuRef esv2102482 7 151222663 151223222 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807477 S 1 0 1 "" NA18507 esv1728131 7 151222964 151222964 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360686 S 2 1 0 "" HuRef nsv525776 7 151223649 151230436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701949 S 2026 0 1 "" esv2034585 7 151244053 151244511 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4727870 S 1 0 1 "" NA18507 esv2174500 7 151301937 151302478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573891 S 1 0 1 GALNTL5 NA18507 esv3445 7 151302096 151302467 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25886 S 1 0 1 Single Asian sample YH GALNTL5 YH nsv523467 7 151327965 151329306 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699226 S 2026 0 1 GALNTL5 nsv889495 7 151394939 151543612 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508084 S 6533 1 0 GALNT11,MLL3 SP54652 nsv831191 7 151404521 151588375 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446807 S 95 1 0 GALNT11,MLL3 esv1004658 7 151425129 151428810 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563673 S 3 0 1 GALNT11 HuRef dgv7549n71 7 151449168 151581939 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889500,nsv889501,nsv889496 M 6533 5 0 GALNT11,MLL3 IS38280,MS24343,MS25223,SP51411,SP55797 dgv7550n71 7 151457503 151533276 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889498,nsv889497,nsv889499 M 6533 3 0 MLL3 SP50984,SP56032,SP56789 nsv522613 7 151473898 151475420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706008 S 2026 0 1 MLL3 nsv436540 7 151496456 151503092 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466419 S 2 0 1 Samples from several populations that are part of the HapMap project. MLL3 NA18505 esv21745 7 151532774 151621339 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18243,esv21016,esv17029,esv14301 M 451 5 2 MLL3 NA12156,NA12287,NA18505,NA18517,NA18861,NA19108,NA19147 nsv889502 7 151533276 151644951 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593892 S 6533 0 1 MLL3 IS39625 nsv821192 7 151535690 151584318 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420706 S 1 1 0 MLL3 NA10851 nsv8232 7 151543858 151643150 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19454 S 31 1 0 Samples from several populations that are part of the HapMap project. MLL3 NA18517 nsv889503 7 151576354 151681504 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508417 S 6533 1 0 MLL3 SP54652 nsv820358 7 151584319 151621339 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420707 S 1 1 0 MLL3 NA10851 nsv511999 7 151619083 151704836 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624545 S 1 0 1 MLL3 1 dgv126n16 7 151619437 151705093 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436532,nsv435842 M 2 0 2 MLL3 NA15510,NA18505 nsv889504 7 151630088 151710464 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589011 S 6533 1 0 MLL3 IS38280 nsv512000 7 151648392 151654461 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624546 S 1 0 1 MLL3 1 nsv465225 7 151658557 151701091 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541065 S 1557 0 1 MLL3 NINDS_7 nsv517255 7 151666243 151753855 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705184,nssv682686,nssv655125,nssv692905,nssv662417,nssv687644,nssv692789,nssv658355,nssv673658,nssv669571,nssv678607,nssv664571,nssv667435,nssv669613,nssv682213,nssv693647,nssv654127,nssv670972,nssv679630,nssv663550 M 2026 16 4 MLL3 esv2405364 7 151713140 151713836 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931373 S 1 0 1 MLL3 NA18507 esv2441886 7 151713333 151713663 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391683 S 1 0 1 MLL3 NA18507 esv2577003 7 151727539 151730700 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181593 S 1 1 0 MLL3 NA18507 dgv1147n67 7 151728917 151744219 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824396,nsv824395,nsv824399,nsv824397 M 31 0 7 MLL3 AK12,NA18526,NA18547,NA18566,NA18947,NA18972,NA18999 nsv821550 7 151728917 151744219 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420708 S 1 1 0 MLL3 NA10851 esv26528 7 151729763 151744103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15188 S 451 0 2 MLL3 NA11993,NA15510 esv2511640 7 151730700 151743268 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175163 S 1 1 0 MLL3 NA18507 esv26790 7 151762079 151764229 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13333 S 451 1 0 MLL3 NA12044 nsv522183 7 151809888 151823054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694956 S 2026 0 1 "" nsv516157 7 151820728 151823054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684284,nssv658135,nssv680757,nssv663293,nssv668744,nssv682073,nssv666529,nssv669983 M 2026 0 8 "" nsv889505 7 151851010 152011384 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563877 S 6533 1 0 XRCC2 IS30109 esv998362 7 151851426 151851429 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577981 S 3 1 0 "" HuRef nsv365318 7 151851428 151851428 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383896 M 24 "" nsv526884 7 151858553 151862254 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703242 S 2026 1 0 "" esv1250093 7 151868463 151868463 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956921 S 2 1 0 "" HuRef nsv512001 7 151875779 151877248 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624547 S 1 0 1 "" 1 esv5153 7 151876240 151877319 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27594 S 1 0 1 Single Asian sample YH "" YH esv8303 7 151876306 151877252 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30744 S 1 0 1 "" SJK esv1018765 7 151902180 151902180 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995902 S 2 1 0 "" HuRef esv992474 7 151911857 151917186 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565495 S 3 0 1 "" HuRef esv2520260 7 151911875 151915714 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221488 S 1 0 1 "" NA18507 esv2388296 7 151912447 151915448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923613 S 1 0 1 "" NA18507 nsv512002 7 151912453 151915341 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624548 S 1 0 1 "" 1 esv5093 7 151912604 151915299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27534 S 1 0 1 Single Asian sample YH "" YH esv9442 7 151912615 151915236 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31883 S 1 0 1 "" SJK esv28681 7 151923561 151927964 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18184 S 451 0 1 "" NA19129 esv2040622 7 151949898 151950298 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4886801 S 1 0 1 "" NA18507 nsv831193 7 151984477 152223611 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446808 S 95 0 1 ACTR3B,XRCC2 esv2644156 7 152002122 152003181 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212986 S 1 1 0 XRCC2 NA18507 esv1178351 7 152002748 152002748 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214487 S 2 1 0 XRCC2 HuRef esv1318404 7 152002807 152002807 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322967 S 2 1 0 XRCC2 HuRef nsv524701 7 152014095 152022698 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700684 S 2026 1 0 "" nsv824400 7 152048735 152051107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427588 S 31 0 1 "" AK8 esv2141525 7 152050141 152050839 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719060 S 1 0 1 "" NA18507 esv4859 7 152050250 152050811 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27300 S 1 0 1 Single Asian sample YH "" YH nsv365657 7 152050347 152050662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384235 M 24 "" esv9517 7 152050353 152050648 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31958 S 1 0 1 "" SJK nsv889506 7 152152886 152261970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543510 S 6533 0 1 ACTR3B MS16153 nsv508491 7 152189548 152219165 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622589 S 4 0 1 "" NA18994 nsv6008 7 152194203 152228190 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv697,nssv1696 M 9 0 2 "" NA18555,NA19240 esv1956401 7 152198731 152199255 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859468 S 1 0 1 "" NA18507 esv3040 7 152198842 152199220 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25481 S 1 0 1 Single Asian sample YH "" YH esv1005383 7 152198879 152199034 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571940 S 3 0 1 "" HuRef esv1119344 7 152198954 152199110 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826245 S 2 0 1 "" HuRef esv1264262 7 152200692 152200692 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176557 S 2 1 0 "" HuRef esv1234231 7 152200838 152200838 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808186 S 2 1 0 "" HuRef esv2534965 7 152205275 152212174 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331402 S 1 0 1 "" NA18507 esv2555702 7 152205625 152213048 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318801 S 1 0 1 "" NA18507 esv27456 7 152205655 152211207 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16473,esv15244 M 451 0 14 "" NA07037,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19147,NA19190,NA19225,NA19240 nsv824401 7 152205657 152211382 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438933,nssv1438255,nssv1423516,nssv1435958,nssv1439773,nssv1441168 M 31 0 6 "" NA18537,NA18566,NA18951,NA18969,NA18973,NA18999 nsv514459 7 152205680 152211232 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627918 S 1414 0 1 "" nsv499148 7 152205700 152211258 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586058 S 9 0 1 "" esv1130081 7 152214343 152214417 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3776887 S 2 0 1 "" HuRef dgv846n27 7 152226785 152238665 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465230,nsv465229 M 1557 0 2 "" HGDP01288,HGDP01295 dgv7551n71 7 152226785 152257065 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889507,nsv889508 M 6533 0 11 "" SP50766,SP54469,SP54684,SP55267,SP55509,SP55514,SP55864,SP55952,SP55984,SP56828,SP57217 nsv527668 7 152235211 152235275 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704143 S 2026 1 0 "" esv2623744 7 152242076 152242141 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369516 S 1 0 1 "" NA18507 nsv520317 7 152343151 152344844 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697345 S 2026 1 0 "" nsv6009 7 152390282 152422923 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5033 S 9 1 0 "" NA19129 nsv831194 7 152393333 152594870 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446809 S 95 1 0 "" nsv6011 7 152400901 152446055 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8447 S 9 0 1 "" NA12156 esv2537699 7 152426967 152428047 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393315 S 1 1 0 "" NA18507 esv1000171 7 152427424 152427430 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572297 S 3 1 0 "" HuRef esv1622701 7 152427496 152427496 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863813 S 2 1 0 "" HuRef esv2556787 7 152440145 152441602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162658 S 1 0 1 "" NA18507 esv275208 7 152440327 152443577 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585352,essv2585437 M 1250 1 1 "" esv1489696 7 152440880 152440980 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752031 S 2 0 1 "" HuRef nsv6012 7 152465719 152487928 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3597 S 9 1 0 "" NA12878 dgv2157e1 7 152474997 152481057 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9858,esv973 M 271 0 0 "" NA19144 nsv8233 7 152481623 152485736 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15139,nssv16046 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18572,NA19007 nsv889509 7 152499557 152636866 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511154 S 6533 1 0 "" SP54988 nsv516950 7 152541503 152543157 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653491,nssv686322 M 2026 0 2 "" esv27030 7 152617296 152618496 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10236 S 451 0 3 "" NA11894,NA11931,NA12776 esv4001 7 152630906 152631490 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26442 S 1 0 1 Single Asian sample YH "" YH dgv2158e1 7 152632106 152929712 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv636,essv13013 M 271 0 0 "" NA18859 esv1746064 7 152642991 152643057 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323279 S 2 0 1 "" HuRef esv995785 7 152657386 152657516 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580866 S 3 0 1 "" HuRef nsv889510 7 152681770 153043979 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582661 S 6533 1 0 "" IS36071 nsv8234 7 152692357 152696440 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16234 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 nsv366965 7 152695444 152695494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385543 M 24 "" esv2495011 7 152701523 152703127 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310022 S 1 0 1 "" NA18507 nsv889511 7 152707771 152832505 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596876 S 6533 1 0 "" IS40658 nsv6013 7 152711980 152760414 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3598,nssv8448 M 9 2 0 "" NA12156,NA12878 nsv889512 7 152719705 153293084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581492 S 6533 1 0 DPP6 IS35594 esv268370 7 152723896 152723981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514020 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12043 esv27691 7 152737199 152742103 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16065 S 451 0 2 "" NA18858,NA19108 dgv2159e1 7 152759712 152929712 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14989,essv16801 M 271 0 0 "" NA18870,NA18872 nsv8235 7 152769155 152771032 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16567 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 nsv437582 7 152775711 152807183 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467463 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 dgv2160e1 7 152777883 152855453 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14817,essv13122,essv13402 M 271 0 0 "" NA18859,NA18870,NA18872 esv34925 7 152778285 152815013 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979914,essv6986969,essv6979913,essv6990424 M 771 1 0 "" NA18859 nsv442078 7 152780054 152825299 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2311986 7 152796792 152797367 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505890 S 1 0 1 "" NA18507 nsv510121 7 152813824 152819824 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622150,nssv624053 M 4 0 2 "" NA10860,NA18994 nsv6014 7 152823090 152858055 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv698 S 9 1 0 "" NA19240 esv1103063 7 152834510 152834510 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077573 S 2 1 0 "" HuRef nsv889513 7 152846060 152999392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596877 S 6533 1 0 "" IS40658 esv2422311 7 152849210 153357443 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161271 S 181 1 0 DPP6 ND01666 nsv524774 7 152862678 153338318 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700765 S 2026 1 0 DPP6 esv26083 7 152894248 152894882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13933 S 451 0 1 "" NA18861 nsv512003 7 152940709 152943133 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624549 S 1 0 1 "" 1 esv3682 7 152941037 152941820 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26123 S 1 0 1 Single Asian sample YH "" YH esv9564 7 152941062 152941755 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32005 S 1 0 1 "" SJK esv1266675 7 152941071 152941761 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593774 S 2 0 1 "" HuRef nsv522069 7 152941949 153189882 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694841 S 2026 1 0 "" esv1007566 7 152952793 152952793 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575770 S 3 1 0 "" HuRef esv1182573 7 152952794 152952794 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748384 S 2 1 0 "" HuRef esv28588 7 152959045 152960156 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10290 S 451 0 2 "" NA18502,NA18909 nsv520959 7 152969272 152971664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697709 S 2026 0 1 "" nsv528882 7 152969272 152977335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705562 S 2026 0 1 "" dgv2161e1 7 153024440 153442771 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2400,essv6222,esv747,essv1838,essv19,essv1617,essv7403 M 271 0 0 DPP6 NA18623,NA18636,NA18942,NA18976,NA18991 nsv470399 7 153030308 153338318 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546943 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP6 HGDP01271 dgv2162e1 7 153084809 153291526 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3659,essv4507,essv6482,essv1707 M 271 0 0 DPP6 NA18623,NA18636,NA18968,NA18991 dgv2163e1 7 153084809 153389164 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv107,essv1977 M 271 0 0 DPP6 NA18942,NA18968 dgv238e55 7 153092539 153359285 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34234,esv34787 M 771 2 0 DPP6 NA18623,NA18968 dgv7552n71 7 153093739 153232654 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889514,nsv889515 M 6533 2 0 DPP6 MS25669,SP58026 dgv7553n71 7 153093739 153325332 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889522,nsv889517,nsv889516,nsv889519 M 6533 8 0 DPP6 MS23057,MS24374,MS25603,MS26120,SP50017,SP50629,SP50896,SP56734 dgv7554n71 7 153093739 153442588 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889518,nsv889531 M 6533 2 0 DPP6 IS34358,SP57270 nsv8237 7 153109030 153439779 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20070,nssv16653,nssv19484,nssv16986,nssv16255,nssv20040,nssv15622,nssv16285,nssv15744,nssv18402,nssv18643 M 31 4 5 Samples from several populations that are part of the HapMap project. DPP6 NA07048,NA10863,NA18502,NA18504,NA18517,NA18942,NA18975,NA18980,NA19221 esv27742 7 153109678 153129896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15948 S 451 0 3 "" NA18909,NA19099,NA19190 nsv469536 7 153111583 153264202 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649645 M 265 5 0 Samples from several populations that are part of the HapMap project. DPP6 nsv471648 7 153111584 153389164 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548948,nssv550236,nssv548947,nssv550238,nssv550237 M 48 2 1 DPP6 NA10492,NA17015,NA17058 dgv7555n71 7 153113954 153269181 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889524,nsv889526,nsv889532,nsv889523,nsv889525,nsv889527,nsv889520 M 6533 9 0 DPP6 MS13872,MS16411,MS24461,SP50783,SP52908,SP53256,SP54766,SP57137,SP80994 dgv7556n71 7 153113954 153313748 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889530,nsv889539,nsv889529,nsv889528,nsv889533,nsv889521 M 6533 12 0 DPP6 IS41877,MS17321,SP50537,SP50973,SP52859,SP52986,SP55417,SP55567,SP55698,SP56267,SP56731,SP57273 nsv824402 7 153114058 153491650 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435199 S 31 1 0 DPP6 NA18942 dgv847n27 7 153118877 153284978 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465232,nsv465235,nsv465234,nsv465233 M 1557 4 0 DPP6 HGDP00749,HGDP00753,HGDP00960,HGDP00973 nsv465231 7 153118877 153284978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541069 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP6 HGDP01271 nsv527276 7 153118877 153338318 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703686 S 2026 1 0 DPP6 nsv442079 7 153130910 153299551 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DPP6 dgv7557n71 7 153148958 153238563 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889542,nsv889534,nsv889540,nsv889535 M 6533 5 0 DPP6 MS16055,SP50761,SP53288,SP53994,SP56271 dgv7558n71 7 153148958 153269181 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889541,nsv889538,nsv889544,nsv889547,nsv889545,nsv889537,nsv889546,nsv889543,nsv889536 M 6533 9 0 DPP6 MS12684,SP50598,SP50997,SP52455,SP53440,SP54993,SP56830,SP57147,SP81471 nsv824403 7 153152658 153286018 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427330 S 31 1 0 DPP6 NA18968 nsv470400 7 153153108 153284978 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546965,nssv546954 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP6 HGDP00960,HGDP01184 nsv818571 7 153153108 153284978 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417533 S 112 1 0 DPP6 NA18968 esv32553 7 153155053 153156650 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99103,essv98030,essv99468 M 51 3 0 "" 21938,22259,22335 dgv239e55 7 153155811 153302383 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34730,esv34682,esv35042,esv35143 M 771 4 0 DPP6 NA18636,NA18942,NA18976,NA18991 nsv889548 7 153239054 153269181 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526986,nssv1543134 M 6533 2 0 DPP6 MS16055,SP58031 nsv889549 7 153258110 153313748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526975 S 6533 1 0 DPP6 SP58026 nsv889550 7 153271407 153302383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501082 S 6533 1 0 DPP6 SP50783 nsv889551 7 153293084 153495598 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592654 S 6533 1 0 DPP6 IS39243 esv2465998 7 153295690 153475521 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268824 S 1 0 1 DPP6 NA18507 nsv469546 7 153312718 153514733 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649656 M 265 0 0 Samples from several populations that are part of the HapMap project. DPP6 nsv366534 7 153318274 153318274 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385112 M 24 DPP6 nsv510122 7 153321738 153327738 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621327,nssv624054 M 4 0 2 DPP6 NA15510,NA18994 nsv365901 7 153451701 153451794 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384479 M 24 DPP6 nsv465236 7 153495598 153553787 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541074 S 1557 0 1 DPP6 1780854295_A nsv526720 7 153496131 153577484 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703060 S 2026 1 0 DPP6 nsv889552 7 153496685 153576455 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550224,nssv1557984 M 6533 0 2 DPP6 MS18375,MS23025 esv29693 7 153510334 153510844 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17615 S 451 0 1 DPP6 NA19257 nsv527203 7 153519468 153543778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703603 S 2026 0 1 DPP6 dgv1148n67 7 153550278 153552994 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824405,nsv824404 M 31 0 2 DPP6 NA18968,NA18969 esv22392 7 153550727 153554373 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18868,esv14287 M 451 0 6 DPP6 NA18502,NA18505,NA18861,NA19114,NA19147,NA19257 esv2637772 7 153563240 153564547 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386688 S 1 0 1 DPP6 NA18507 esv2025877 7 153563253 153563795 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602938 S 1 0 1 DPP6 NA18507 esv5151 7 153563339 153563686 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27592 S 1 0 1 Single Asian sample YH DPP6 YH nsv889553 7 153591515 153612194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593495 S 6533 0 1 DPP6 IS39420 nsv518759 7 153595037 153596878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696209 S 2026 0 1 DPP6 esv2628794 7 153596491 153597503 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205125 S 1 1 0 DPP6 NA18507 esv273317 7 153596951 153597240 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582038,essv2582477 M 7 2 0 Samples from several populations that are part of the HapMap project. DPP6 NA12878,NA12891 esv268774 7 153596951 153597291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575832,essv2540731,essv2571747,essv2521453,essv2542220,essv2545275,essv2523369,essv2548609,essv2521481,essv2525480,essv2550511,essv2554009,essv2544238,essv2552294,essv2520381,essv2577735,essv2553729,essv2576182,essv2520249,essv2530747,essv2561887,essv2537260,essv2528353,essv2520981,essv2557304,essv2556905,essv2551699,essv2562618,essv2569288,essv2549977,essv2527309,essv2561701,essv2544854,essv2523633,essv2553056,essv2538413,essv2540236,essv2534769,essv2539870,essv2549327,essv2519737,essv2560154,essv2566213,essv2531272,essv2532500,essv2567988,essv2528809,essv2541869,essv2570332,essv2563837,essv2553162,essv2535763,essv2572208,essv2541957,essv2550956,essv2569169,essv2543671,essv2556277,essv2533921,essv2573125,essv2555431,essv2533745,essv2555660,essv2567230,essv2531325,essv2543316,essv2572014,essv2525746,essv2526818,essv2529762,essv2574982,essv2538582,essv2574644,essv2568733,essv2560230,essv2549613,essv2571319,essv2545738,essv2536114,essv2537884,essv2533056,essv2554431,essv2547652,essv2525013,essv2563312,essv2557930 M 157 86 0 Samples from several populations that are part of the HapMap project. DPP6 NA06986,NA07000,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11894,NA11919,NA12003,NA12004,NA12045,NA12144,NA12156,NA12234,NA12287,NA12414,NA12489,NA12716,NA12761,NA12763,NA12814,NA12815,NA12873,NA12874,NA12878,NA12891,NA18498,NA18499,NA18501,NA18504,NA18507,NA18508,NA18511,NA18522,NA18523,NA18526,NA18537,NA18542,NA18547,NA18552,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18856,NA18858,NA18861,NA18870,NA18871,NA18916,NA18942,NA18943,NA18944,NA18945,NA18947,NA18961,NA18965,NA18973,NA18980,NA19005,NA19093,NA19102,NA19108,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239 nsv465238 7 153604814 153710568 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541075 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPP6 HGDP01021 nsv831195 7 153634607 153780253 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446810 S 95 1 0 DPP6 esv1940735 7 153771445 153771877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823000 S 1 0 1 DPP6 NA18507 nsv366921 7 153771674 153771761 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385499 M 24 DPP6 nsv512004 7 153783611 153786723 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624550 S 1 0 1 DPP6 1 esv4438 7 153784700 153786066 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26879 S 1 0 1 Single Asian sample YH DPP6 YH esv1610528 7 153784744 153786003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920810 S 2 0 1 DPP6 HuRef esv6277 7 153784757 153786001 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28718 S 1 0 1 DPP6 SJK esv22669 7 153897179 153898429 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12638 S 451 0 1 DPP6 NA19190 esv34081 7 154004057 154086188 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 DPP6 nsv6015 7 154009633 154058166 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9913,nssv5034,nssv1697,nssv6182,nssv699 M 9 0 5 DPP6 NA12156,NA18507,NA18555,NA19129,NA19240 esv2434145 7 154012938 154013851 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360105 S 1 1 0 DPP6 NA18507 esv1451910 7 154013213 154013213 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3610225 S 2 1 0 DPP6 HuRef nsv511372 7 154020828 154033792 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625976 S 1 0 1 DPP6 1 esv2540470 7 154021540 154031871 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249211 S 1 0 1 DPP6 NA18507 esv991575 7 154022269 154030913 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564496 S 3 0 1 DPP6 HuRef esv2602761 7 154022313 154031469 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180681 S 1 0 1 DPP6 NA18507 nsv512005 7 154022770 154031227 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624551 S 1 0 1 DPP6 1 esv1097647 7 154022834 154030686 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736763 S 2 0 1 DPP6 HuRef nsv820692 7 154023089 154029260 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420709 S 1 0 1 DPP6 NA10851 esv24733 7 154023089 154035505 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11196,esv10227 M 451 36 0 DPP6 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv514460 7 154023792 154029248 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627919 S 1414 0 1 DPP6 nsv442256 7 154024104 154031766 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DPP6 esv1001960 7 154024104 154034857 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586015 S 3 0 1 DPP6 HuRef nsv366340 7 154077054 154077054 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384918 M 24 DPP6 esv1110347 7 154077068 154077068 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4136879 S 2 1 0 DPP6 HuRef esv26207 7 154078402 154087087 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10167,esv20425,esv12078 M 451 16 4 DPP6 NA11894,NA11931,NA11995,NA12006,NA12044,NA12489,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19190,NA19225,NA19240,NA19257 esv2606084 7 154078720 154080527 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312224 S 1 0 1 DPP6 NA18507 nsv366762 7 154078805 154078882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385340 M 24 DPP6 esv1009254 7 154078872 154080367 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586751 S 3 0 1 DPP6 HuRef esv1692856 7 154078912 154078990 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917035 S 2 0 1 DPP6 HuRef esv1004696 7 154078956 154086834 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565157 S 3 0 1 DPP6 HuRef nsv820907 7 154079312 154080367 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420710 S 1 0 1 DPP6 NA10851 esv1263400 7 154079528 154079602 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338598 S 2 0 1 DPP6 HuRef esv4397 7 154079618 154080540 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26838 S 1 0 1 Single Asian sample YH DPP6 YH esv1007428 7 154082749 154086899 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586567 S 3 0 1 DPP6 HuRef nsv821075 7 154082749 154087087 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420711 S 1 0 1 DPP6 NA10851 esv1296344 7 154083852 154084160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3796471 S 2 0 1 DPP6 HuRef nsv366906 7 154084719 154085333 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385484 M 24 DPP6 esv1758390 7 154084994 154085257 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837753 S 2 0 1 DPP6 HuRef esv4695 7 154085026 154086951 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27136 S 1 0 1 Single Asian sample YH DPP6 YH esv1443053 7 154085286 154085550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054460 S 2 0 1 DPP6 HuRef esv1371027 7 154085571 154086320 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071873 S 2 0 1 DPP6 HuRef nsv366238 7 154086182 154086269 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384816 M 24 DPP6 esv988293 7 154098969 154099115 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577993 S 3 0 1 DPP6 HuRef esv1294593 7 154098984 154099131 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117074 S 2 0 1 DPP6 HuRef nsv6016 7 154108801 154142930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8449 S 9 1 0 DPP6 NA12156 nsv509226 7 154121211 154208146 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623520 S 4 1 0 DPP6 NA18994 nsv507428 7 154174983 154180983 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620398 S 4 1 0 DPP6 NA15510 esv2561489 7 154201405 154202065 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276201 S 1 1 0 DPP6 NA18507 nsv523054 7 154237520 154238750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698737 S 2026 0 1 DPP6 esv2366894 7 154240221 154240668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951960 S 1 0 1 DPP6 NA18507 esv4846 7 154240334 154240624 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27287 S 1 0 1 Single Asian sample YH DPP6 YH nsv365937 7 154240370 154240458 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384515 M 24 DPP6 esv998210 7 154240413 154240505 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573492 S 3 0 1 DPP6 HuRef nsv889554 7 154279263 154302813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546645 S 6533 0 1 DPP6 MS17208 nsv889555 7 154279263 154339649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543511 S 6533 0 1 DPP6 MS16153 nsv517537 7 154283535 154336714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658517,nssv693842,nssv683656,nssv692722,nssv653345,nssv694057,nssv665138,nssv654300,nssv684892,nssv652295,nssv675122,nssv674425,nssv661617 M 2026 0 13 DPP6 nsv889556 7 154300677 154326486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535352 S 6533 1 0 DPP6 MS12170 esv2634055 7 154301394 154302743 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206896 S 1 0 1 DPP6 NA18507 esv2353387 7 154301746 154302430 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4764016 S 1 0 1 DPP6 NA18507 dgv848n27 7 154303579 154324547 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465241,nsv465240 M 1557 0 2 DPP6 HGDP01163,NINDS_66 esv8110 7 154306164 154306309 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30551 S 1 0 1 DPP6 SJK nsv8238 7 154326490 154329068 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16683 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv24197 7 154340744 154344931 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18841 S 451 0 1 "" NA19099 esv270057 7 154489122 154489449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557992,essv2571674,essv2546451,essv2526007,essv2542338,essv2536427,essv2522944,essv2544130,essv2570940,essv2556610,essv2568194,essv2545594,essv2523271,essv2531932,essv2577330,essv2521717,essv2576651,essv2550620,essv2525337,essv2550412,essv2535241,essv2544364,essv2552272,essv2520439,essv2547430,essv2529179,essv2558397,essv2577827,essv2553550,essv2559440,essv2565254,essv2576350,essv2520250,essv2563976,essv2554882,essv2530627,essv2562033,essv2537356,essv2546714,essv2557310,essv2552621,essv2551677,essv2569314,essv2561452,essv2534512,essv2549485,essv2531218,essv2532486,essv2567861,essv2528882,essv2535730,essv2572219,essv2542017,essv2573200,essv2555208,essv2533482,essv2566490,essv2530167,essv2573541,essv2526828,essv2560825,essv2537948,essv2548703,essv2533027,essv2554514,essv2547691,essv2524889,essv2563511 M 157 68 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12892,NA18499,NA18502,NA18504,NA18508,NA18523,NA18561,NA18564,NA18573,NA18576,NA18577,NA18579,NA18608,NA18609,NA18856,NA18942,NA18943,NA18944,NA18948,NA18949,NA18964,NA19005,NA19137 esv272955 7 154489122 154489449 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582080,essv2583089 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv366608 7 154504847 154505017 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385186 M 24 HTR5A nsv8239 7 154506582 154511045 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16713 S 31 0 1 Samples from several populations that are part of the HapMap project. HTR5A NA07048 nsv821049 7 154507202 154507907 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420712 S 1 1 0 HTR5A NA10851 nsv824406 7 154507202 154507907 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426793 S 31 0 1 HTR5A AK6 nsv824407 7 154507432 154507880 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439775 S 31 0 1 HTR5A NA18537 nsv513740 7 154507607 154509092 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626992 S 1 1 0 HTR5A 1 nsv512006 7 154507838 154513903 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624552 S 1 0 1 HTR5A 1 esv9298 7 154507959 154511560 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31739 S 1 0 1 HTR5A SJK esv275077 7 154511611 154513557 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585302 S 1250 0 1 "" esv267739 7 154514084 154514169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516535 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 dgv2164e1 7 154515757 154520478 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv974,essv14042 M 271 0 0 "" NA18862 nsv442080 7 154515932 154520474 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421706 7 154515932 154520478 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5159218,essv5026445,essv5072039,essv5065468,essv5077607,essv5014615,essv5078984,essv5139073,essv5047157,essv5142949,essv5084076,essv5085440,essv5132998,essv5139897,essv5054556,essv5064013,essv5055283,essv5065436,essv5071173,essv5158460,essv5053833,essv5122473,essv5118664,essv5051509,essv5155322,essv5081903,essv5150855,essv5085583 M 1184 0 28 "" NA18858,NA18862,NA18916,NA18930,NA19031,NA19036,NA19147,NA19172,NA19189,NA19197,NA19203,NA19346,NA19350,NA19360,NA19377,NA19394,NA19398,NA19403,NA19429,NA19449,NA20127,NA20128,NA20277,NA20291,NA20292,NA21420,NA21519,NA21678 esv28937 7 154516198 154521952 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17522,esv17205 M 451 1 3 "" NA12878,NA18858,NA18916,NA19147 nsv8240 7 154518771 154523427 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15370 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12802 esv1980292 7 154540951 154541395 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859073 S 1 0 1 "" NA18507 esv1002026 7 154541321 154541371 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570098 S 3 0 1 "" HuRef esv1318023 7 154541352 154541403 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597226 S 2 0 1 "" HuRef nsv515561 7 154542414 154545784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659951,nssv664793,nssv663908,nssv692525,nssv693021,nssv661727 M 2026 0 6 "" esv2440405 7 154546244 154547764 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346337 S 1 0 1 "" NA18507 esv2122999 7 154546542 154547087 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890449 S 1 0 1 "" NA18507 nsv366387 7 154546727 154546902 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384965 M 24 "" esv1756853 7 154546730 154546884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138870 S 2 0 1 "" HuRef esv2521105 7 154562254 154563831 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314171 S 1 0 1 "" NA18507 esv22043 7 154562533 154563998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10659,esv14443 M 451 0 4 "" NA11894,NA12287,NA18505,NA19114 esv5033 7 154562917 154563518 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27474 S 1 0 1 Single Asian sample YH "" YH esv1935600 7 154562920 154563545 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772352 S 1 0 1 "" NA18507 nsv365470 7 154562961 154563280 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384048 M 24 "" esv2099160 7 154563473 154563911 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611378 S 1 0 1 "" NA18507 esv2066500 7 154572676 154573390 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729126 S 1 0 1 "" NA18507 esv5281 7 154572803 154573278 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27722 S 1 0 1 Single Asian sample YH "" YH esv9410 7 154572859 154573174 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31851 S 1 0 1 "" SJK esv1989621 7 154582137 154582698 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501852 S 1 0 1 "" NA18507 nsv437583 7 154589637 154603888 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467464 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 esv28298 7 154593687 154596303 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19589 S 451 0 1 "" NA18502 nsv520815 7 154594196 154596312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688180,nssv675741 M 2026 0 2 "" nsv465243 7 154597467 154609807 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541079 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01044 nsv465244 7 154603857 154609807 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541080 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01053 nsv526885 7 154618553 154620337 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703243 S 2026 1 0 "" esv7854 7 154630854 154631155 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30295 S 1 0 1 "" SJK esv2588162 7 154631221 154631505 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249372 S 1 0 1 "" NA18507 esv2003709 7 154685550 154686164 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649741 S 1 0 1 "" NA18507 nsv519304 7 154688930 154709667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655251,nssv685888,nssv689636,nssv697298 M 2026 0 4 "" esv271211 7 154710046 154710131 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513919 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv824408 7 154817900 155000169 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436760 S 31 1 0 CNPY1,EN2 NA18542 esv2442552 7 154818568 154822145 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222005 S 1 0 1 "" NA18507 esv2428814 7 154826567 154827206 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305993 S 1 1 0 "" NA18507 nsv512930 7 154826579 154827515 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625579 S 1 1 0 "" 1 esv1595784 7 154827089 154827089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870269 S 2 1 0 "" HuRef esv21643 7 154828318 154836417 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12641,esv17088,esv9777,esv10174 M 451 1 19 "" NA06985,NA07037,NA07045,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12828,NA12878,NA18508,NA18517,NA18523,NA18861,NA18916,NA19108,NA19129,NA19190 dgv1149n67 7 154830922 154834427 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824412,nsv824411,nsv824410 M 31 7 0 "" AK12,AK2,NA18564,NA18592,NA18969,NA18997,NA18999 esv2480413 7 154831155 154834742 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256130 S 1 0 1 "" NA18507 nsv511360 7 154831196 154835743 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625901 S 1 0 1 "" 1 esv2522399 7 154831711 154833164 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248993 S 1 0 1 "" NA18507 esv2190875 7 154832069 154832743 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736528 S 1 0 1 "" NA18507 esv1007073 7 154835716 154836236 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586175 S 3 0 1 "" HuRef nsv889558 7 154846251 154919521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546646 S 6533 0 1 "" MS17208 nsv523176 7 154868305 154875087 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698889 S 2026 0 1 "" nsv465245 7 154875087 154906404 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541081 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00788 esv275230 7 154876918 154879997 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585559 S 1250 0 1 "" esv2523533 7 154891563 154894337 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272246 S 1 0 1 "" NA18507 esv2456524 7 154891978 154894753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331108 S 1 0 1 "" NA18507 dgv40e194 7 154892192 154894165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2244370,esv1984994 M 1 0 1 "" NA18507 esv23194 7 154892336 154894051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11606,esv12268 M 451 0 4 "" NA18858,NA18909,NA19114,NA19225 esv2155569 7 154893926 154894286 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947157 S 1 0 1 "" NA18507 esv987601 7 154911015 154919863 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565681 S 3 0 1 "" HuRef nsv517243 7 154914177 154915345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689406,nssv654111,nssv678520,nssv675777 M 2026 0 4 "" nsv831196 7 154923206 155094985 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446811 S 95 1 0 CNPY1,EN2 esv1561663 7 154931069 154931069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621420 S 2 1 0 "" HuRef nsv824413 7 154933761 154948576 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426794 S 31 1 0 EN2 AK6 nsv520626 7 154939653 154950655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673323,nssv697992,nssv691888 M 2026 0 3 EN2 nsv6017 7 154960630 154992442 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10588 S 9 1 0 CNPY1 NA18956 esv3009 7 154967488 154968448 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25450 S 1 0 1 Single Asian sample YH "" YH nsv366007 7 154968027 154968090 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384585 M 24 "" nsv889559 7 155013545 155088709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530596 S 6533 0 1 CNPY1 MS10311 esv28471 7 155100359 155104484 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13440 S 451 0 4 "" NA12004,NA12828,NA18916,NA19129 esv274974 7 155156778 155162397 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585784 S 1250 0 1 RBM33 nsv365283 7 155196617 155201771 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383861 M 24 RBM33 esv997138 7 155218891 155218891 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570691 S 3 1 0 RBM33 HuRef nsv509227 7 155238485 155308883 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619502 S 4 1 0 RBM33,SHH NA10860 nsv889560 7 155242867 155308388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546647,nssv1530597 M 6533 0 2 RBM33,SHH MS10311,MS17208 dgv7559n71 7 155264868 155302732 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889562,nsv889561 M 6533 0 2 RBM33,SHH SP54988,SP55021 esv1010885 7 155276919 155278296 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564021 S 3 1 0 "" HuRef esv1113368 7 155277544 155277544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636782 S 2 1 0 "" HuRef esv8795 7 155277552 155277804 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31236 S 1 0 1 "" SJK esv1539418 7 155277661 155277661 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088858 S 2 1 0 "" HuRef nsv509228 7 155341537 155387659 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618069,nssv623521,nssv619503,nssv620892 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv6152 7 155344905 155344977 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28593 S 1 1 0 "" SJK nsv366255 7 155345258 155345311 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384833 M 24 "" nsv889563 7 155348283 155389923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546648 S 6533 0 1 "" MS17208 nsv6018 7 155357858 155389616 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8450,nssv3599 M 9 2 0 "" NA12156,NA12878 nsv518485 7 155362261 155365410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695924 S 2026 0 1 "" nsv437584 7 155374493 155407842 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467465 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18914 esv4022 7 155377945 155378233 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26463 S 1 0 1 Single Asian sample YH "" YH esv2151696 7 155387246 155387689 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944481 S 1 0 1 "" NA18507 esv990012 7 155387371 155387447 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578513 S 3 0 1 "" HuRef nsv510971 7 155387659 155452279 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624320 S 4 0 0 "" NA18994 esv1192043 7 155418115 155418323 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778664 S 2 0 1 "" HuRef esv996845 7 155418116 155423259 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564944 S 3 0 1 "" HuRef nsv512007 7 155418642 155421052 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624553 S 1 0 1 "" 1 esv1630863 7 155419433 155419674 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073703 S 2 0 1 "" HuRef esv1632140 7 155419753 155419753 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175678 S 2 1 0 "" HuRef esv3664 7 155419820 155420339 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26105 S 1 0 1 Single Asian sample YH "" YH esv1120373 7 155419874 155420258 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623681 S 2 0 1 "" HuRef nsv508492 7 155428720 155453343 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620003 S 4 0 1 "" NA15510 nsv507429 7 155430663 155436663 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621897,nssv617754 M 4 2 0 "" CHM,NA10860 esv1326030 7 155432259 155432259 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282759 S 2 1 0 "" HuRef esv1656473 7 155432314 155432314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245604 S 2 1 0 "" HuRef nsv889564 7 155434633 155488807 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546649 S 6533 0 1 "" MS17208 nsv889565 7 155484560 155532048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580850 S 6533 0 1 "" IS35484 esv268248 7 155498479 155498638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493692,essv2494890,essv2506720,essv2499012,essv2510396 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18520,NA19108,NA19114,NA19172 nsv889566 7 155505901 155553206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546650 S 6533 0 1 "" MS17208 nsv465246 7 155526822 155557449 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541082 S 1557 0 1 "" NINDS_61 nsv465247 7 155548882 155577229 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541083 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00684 esv2604462 7 155586611 155587358 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186780 S 1 1 0 "" NA18507 esv1663351 7 155586767 155586767 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240018 S 2 1 0 "" HuRef nsv366031 7 155633555 155633555 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384609 M 24 "" esv1001002 7 155638221 155641816 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564343 S 3 1 0 "" HuRef nsv821124 7 155639249 155641549 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420714 S 1 0 1 "" NA10851 esv24315 7 155639348 155641439 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9946 S 451 30 1 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240 esv2573621 7 155639435 155641760 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193835 S 1 0 1 "" NA18507 esv999212 7 155639569 155641439 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586184 S 3 1 0 "" HuRef esv1489196 7 155640604 155640653 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196221 S 2 0 1 "" HuRef nsv831197 7 155707994 155932827 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446812 S 95 1 0 LOC285889 esv1505757 7 155750530 155750620 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654897 S 2 0 1 "" HuRef esv1410174 7 155750666 155751071 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024878 S 2 0 1 "" HuRef esv1512392 7 155751761 155752211 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172098 S 2 0 1 "" HuRef nsv525273 7 155754932 155805924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701374 S 2026 1 0 "" esv2521619 7 155816900 155817845 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392970 S 1 1 0 "" NA18507 esv1996509 7 155827787 155828190 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539656 S 1 0 1 "" NA18507 esv995070 7 155833459 155833459 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565854 S 3 1 0 "" HuRef esv1266733 7 155833593 155833593 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4077270 S 2 1 0 "" HuRef dgv2165e1 7 155852149 156118628 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21754,essv20938,esv727,essv19909,esv604,essv20587 M 271 0 0 LINC00244,LOC285889 NA07056,NA12239,NA12801,NA12813 nsv889567 7 155914694 155967515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546651 S 6533 0 1 LOC285889 MS17208 nsv465248 7 155923866 155931889 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541084 S 1557 0 1 LOC285889 1780846322_A dgv2166e1 7 155958047 156013051 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25028,essv23745,essv24185 M 271 0 0 "" NA07056,NA12801,NA12813 nsv365771 7 155967963 155968028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384349 M 24 "" esv1097309 7 155968098 155968148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3902991 S 2 0 1 "" HuRef esv269675 7 155975684 155976708 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507937,essv2511349,essv2500629,essv2504905 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18570,NA18571,NA18942 esv2652348 7 155983937 155984252 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271934 S 1 0 1 "" NA18507 esv27576 7 155991340 156006660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19102 S 451 0 1 "" NA12239 nsv442081 7 155991370 156003709 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv22713 7 155991372 156013051 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12239 esv2037680 7 156005618 156005977 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662527 S 1 0 1 "" NA18507 esv1378021 7 156005802 156005918 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3735612 S 2 0 1 "" HuRef esv991608 7 156005823 156005938 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571829 S 3 0 1 "" HuRef nsv517859 7 156017858 156018081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695263 S 2026 0 1 "" nsv6019 7 156062890 156087896 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3601 S 9 0 1 "" NA12878 nsv511377 7 156075998 156088256 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625983 S 1 0 1 "" 1 nsv8241 7 156078599 156087616 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15400,nssv17259,nssv16486,nssv17378,nssv15652 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740,NA12802,NA18552,NA18942 nsv512008 7 156079730 156087082 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624554 S 1 0 1 "" 1 esv7116 7 156079761 156079876 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29557 S 1 0 0 "" SJK esv21970 7 156079842 156087139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19379 S 451 0 2 "" NA11993,NA12878 nsv824414 7 156079932 156087107 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425083,nssv1435200,nssv1422703 M 31 0 3 "" AK2,NA18552,NA18942 nsv499440 7 156079934 156087081 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586059 S 9 0 1 "" esv6524 7 156079971 156087084 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28965 S 1 0 0 "" SJK esv2421500 7 156082797 156086940 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5023837,essv5002170,essv5019890,essv5045791,essv5039596,essv5110895,essv5119664,essv5154742,essv5017791,essv5117880,essv5135893,essv5101662,essv5096112,essv5053777,essv5096401,essv5067554,essv5137069,essv5034050,essv5149016,essv5095200,essv5021580,essv5110402,essv5072364,essv5116899,essv5057610,essv5128284,essv5129753,essv5016338,essv5142099,essv5006770,essv5023581,essv5053745,essv5048022,essv5127967,essv5051676,essv5036630,essv5112825,essv5036423,essv5027289,essv5041987,essv5088022,essv5045664,essv5041516,essv5112254,essv5034033,essv5046245,essv5014018,essv5024036,essv5125961,essv5084735,essv5133170,essv5086877,essv5093523,essv5110024,essv5047645,essv5006798,essv5078676,essv5118163,essv5098832,essv5121664,essv5103364,essv5094395,essv5067868,essv5040072,essv5122205,essv5103047,essv5137694,essv5037923,essv5110678,essv5150099,essv5019717,essv5054728,essv5042202,essv5037676,essv5155355,essv5146677,essv5122550,essv5007199,essv5087142,essv5105523,essv5118222,essv5085071,essv5148948,essv5042101,essv5002761,essv5113832,essv5036323,essv5116775,essv5033481,essv5038133,essv5135237,essv5093299,essv5158264,essv5019577,essv5010855,essv5150109,essv5090930,essv5080539,essv5021309,essv5042039,essv5128997,essv5044133,essv5110767,essv5080735,essv5007336,essv5083548,essv5113515,essv5135517,essv5119060,essv5161007,essv5021053,essv5015408,essv5050099,essv5117741,essv5156514 M 1184 0 115 "" NA10830,NA10831,NA10835,NA10838,NA11918,NA11920,NA11993,NA12003,NA12154,NA12155,NA12234,NA12249,NA12283,NA12286,NA12344,NA12347,NA12375,NA12383,NA12386,NA12399,NA12740,NA12750,NA12802,NA12812,NA12815,NA12874,NA12878,NA12891,NA17965,NA17977,NA17979,NA18105,NA18106,NA18107,NA18109,NA18118,NA18141,NA18144,NA18146,NA18147,NA18154,NA18155,NA18532,NA18543,NA18552,NA18616,NA18618,NA18636,NA18637,NA18642,NA18740,NA18747,NA18912,NA18942,NA18966,NA18976,NA18977,NA18995,NA19010,NA19060,NA19075,NA19150,NA19151,NA19445,NA19463,NA19654,NA19656,NA19670,NA19671,NA19680,NA19726,NA19727,NA19746,NA19755,NA19759,NA19760,NA19771,NA19772,NA19774,NA19782,NA19784,NA19796,NA20284,NA20287,NA20288,NA20508,NA20539,NA20757,NA20771,NA20775,NA20796,NA20799,NA20802,NA20818,NA20849,NA20851,NA20882,NA20883,NA20884,NA20889,NA20890,NA20892,NA20907,NA20911,NA21094,NA21106,NA21107,NA21111,NA21118,NA21137,NA21312,NA21423,NA21441,NA21442,NA21682 nsv366456 7 156082959 156083169 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385034 M 24 "" nsv442282 7 156084551 156086940 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv831198 7 156115402 156315117 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446813 S 95 0 1 C7orf13,LMBR1,RNF32 nsv6020 7 156142913 156173442 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5035 S 9 1 0 LMBR1,RNF32 NA19129 nsv525099 7 156156872 156162381 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701158 S 2026 1 0 RNF32 esv268871 7 156223141 156223477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525535,essv2535386,essv2547503,essv2576503 M 157 4 0 Samples from several populations that are part of the HapMap project. LMBR1 NA12156,NA12249,NA12717,NA12814 nsv889568 7 156345168 156440802 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546652 S 6533 0 1 LMBR1,NOM1 MS17208 nsv889569 7 156418773 156508732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543513 S 6533 0 1 LOC645249,MNX1,NOM1 MS16153 nsv465249 7 156429466 156508732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541085 S 1557 0 1 LOC645249,MNX1,NOM1 1780862444_A nsv824415 7 156458472 156459494 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423519 S 31 1 0 NOM1 NA18999 esv27158 7 156467365 156469668 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14218 S 451 0 3 "" NA11993,NA19240,NA19257 nsv6022 7 156474000 156507578 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5037 S 9 1 0 LOC645249,MNX1 NA19129 nsv889570 7 156476488 156519346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510756 S 6533 0 1 LOC645249,MNX1 SP54988 dgv1150n67 7 156477409 156508680 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824417,nsv824416 M 31 2 0 LOC645249,MNX1 AK10,AK6 dgv7560n71 7 156480826 156514137 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889573,nsv889571,nsv889572 M 6533 0 6 LOC645249,MNX1 SP54591,SP54725,SP54956,SP54967,SP55019,SP55021 nsv824418 7 156490249 156491363 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421823 S 31 1 0 MNX1 NA18997 esv1935540 7 156572105 156572488 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573318 S 1 0 1 "" NA18507 esv1326428 7 156572299 156572358 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070778 S 2 0 1 "" HuRef dgv7561n71 7 156732243 156808669 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889575,nsv889574 M 6533 0 2 UBE3C IS33601,IS35484 nsv889576 7 156751124 156827069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542925 S 6533 1 0 DNAJB6,UBE3C MS15952 esv32984 7 156773030 156784245 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98732 S 51 1 0 "" 21606 nsv518702 7 156803481 156815287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696152 S 2026 0 1 "" nsv818572 7 156803481 156815287 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416850 S 112 0 1 "" NA12043 nsv465251 7 156809511 156815287 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541087 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00638 nsv517521 7 156809511 156815287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685932,nssv670700,nssv680235,nssv682426,nssv685407,nssv687678,nssv678382,nssv652262,nssv658103,nssv693711,nssv659149,nssv663054,nssv682949,nssv677991 M 2026 0 14 "" esv32861 7 156811367 156814654 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98553 S 51 0 1 "" 22085 nsv889577 7 156815287 156969377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546653 S 6533 0 1 DNAJB6 MS17208 esv2032343 7 156854949 156855509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903187 S 1 0 1 DNAJB6 NA18507 dgv7562n71 7 156879388 156971387 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889582,nsv889578 M 6533 0 2 DNAJB6 IS33504,MS16153 esv1305277 7 156885766 156885766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650678 S 2 1 0 DNAJB6 HuRef nsv889579 7 156886648 156922997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549734,nssv1592805 M 6533 0 2 DNAJB6 IS39258,MS18276 dgv7563n71 7 156886648 156951137 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889580,nsv889585,nsv889584,nsv889581 M 6533 0 4 DNAJB6 IS33601,IS33797,IS41634,MS10698 dgv7564n71 7 156886648 157085402 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889583,nsv889586,nsv889587 M 6533 0 3 DNAJB6,MIR153-2,PTPRN2 IS32322,MS10311,MS13095 nsv366429 7 156904373 156904373 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385007 M 24 "" esv992340 7 156904380 156904432 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578117 S 3 0 1 "" HuRef esv1147574 7 156904425 156904478 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3594677 S 2 0 1 "" HuRef esv2377377 7 156915967 156916318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815384 S 1 0 1 "" NA18507 nsv366008 7 156916044 156916103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384586 M 24 "" esv1467635 7 156916107 156916167 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283390 S 2 0 1 "" HuRef nsv889588 7 156922997 156982445 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575053 S 6533 0 1 "" IS33684 esv2302980 7 156923300 156923824 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4783986 S 1 0 1 "" NA18507 esv1231725 7 156925083 156925138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3959252 S 2 0 1 "" HuRef nsv889589 7 156926629 157028499 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585872 S 6533 0 1 PTPRN2 IS37646 esv2577025 7 156926643 156928384 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340388 S 1 0 1 "" NA18507 esv1983556 7 156926719 156927071 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4751369 S 1 0 1 "" NA18507 esv25887 7 156926805 156928225 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11677 S 451 0 3 "" NA18505,NA18861,NA19114 esv1376198 7 156927141 156927141 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734698 S 2 1 0 "" HuRef nsv366618 7 156927446 156927522 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385196 M 24 "" nsv509229 7 156944797 157021697 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619504 S 4 1 0 "" NA10860 nsv889590 7 156951420 157000750 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592203 S 6533 0 1 "" IS39233 esv1214490 7 156955775 156955775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015091 S 2 1 0 "" HuRef esv1406537 7 156956048 156956048 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712420 S 2 1 0 "" HuRef esv2176609 7 156965321 156965935 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570268 S 1 0 1 "" NA18507 esv5094 7 156965669 156965975 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27535 S 1 0 1 Single Asian sample YH "" YH esv1431495 7 156965933 156965933 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184205 S 2 1 0 "" HuRef nsv366769 7 156969327 156969327 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385347 M 24 "" nsv8242 7 156978464 157041310 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15804,nssv16315 M 31 0 2 Samples from several populations that are part of the HapMap project. PTPRN2 NA18975,NA18980 dgv7565n71 7 156991398 157101494 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889592,nsv889591 M 6533 0 2 MIR153-2,PTPRN2 MS16153,MS17208 nsv507430 7 156994521 157000521 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617755 S 4 1 0 "" CHM esv270515 7 157027847 157032644 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511810,essv2508951,essv2500960,essv2506665,essv2510849,essv2509494 M 157 6 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA18499,NA18522,NA18856,NA19108,NA19116,NA19129 nsv442286 7 157031128 157043601 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PTPRN2 dgv2167e1 7 157043116 157306239 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1727,esv334,esv47 M 271 0 0 MIR153-2,PTPRN2 NA18997 nsv428191 7 157043116 157548996 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451351 S 62 1 0 LOC100506585,MIR153-2,PTPRN2 HGDP00450 esv273957 7 157043516 157043858 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581235 S 7 1 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA19240 esv268250 7 157043519 157043853 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557959,essv2575882,essv2540814,essv2571833,essv2546343,essv2521158,essv2526310,essv2523082,essv2543899,essv2556730,essv2568330,essv2545389,essv2523269,essv2531808,essv2577486,essv2570645,essv2548417,essv2576903,essv2525527,essv2535152,essv2544329,essv2552083,essv2529382,essv2564403,essv2559720,essv2520237,essv2564223,essv2537289,essv2520947,essv2557579,essv2557066,essv2552521,essv2551769,essv2532111,essv2562627,essv2569599,essv2578575,essv2558896,essv2537142,essv2539025,essv2527113,essv2561445,essv2541314,essv2564787,essv2519687,essv2559931,essv2530981,essv2541601,essv2563602,essv2542111,essv2550927,essv2543637,essv2527836,essv2562237,essv2539362,essv2533886,essv2578426,essv2533519,essv2573988,essv2531357,essv2529442,essv2575042,essv2538524,essv2526596,essv2560901,essv2568430,essv2545118,essv2560515,essv2549961,essv2551197,essv2536035,essv2548922,essv2533385,essv2554581,essv2547626,essv2524894,essv2563247 M 157 77 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12154,NA12156,NA12249,NA12414,NA12489,NA12749,NA12751,NA12776,NA12815,NA12828,NA12878,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18545,NA18558,NA18566,NA18570,NA18573,NA18592,NA18603,NA18856,NA18858,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18951,NA18961,NA19093,NA19102,NA19108,NA19114,NA19137,NA19147,NA19172,NA19190,NA19225,NA19257 esv2202859 7 157080731 157081237 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560201 S 1 0 1 PTPRN2 NA18507 nsv365287 7 157080807 157080918 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383865 M 24 PTPRN2 esv1458869 7 157106700 157106700 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3875089 S 2 1 0 PTPRN2 HuRef nsv435851 7 157130309 157136673 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466422 S 2 0 1 PTPRN2 NA15510 dgv7566n71 7 157130345 157159993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889594,nsv889593 M 6533 0 2 PTPRN2 MS10311,MS16153 nsv8243 7 157132217 157136658 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18801,nssv16773,nssv16605,nssv15682,nssv15460,nssv16516,nssv16190,nssv16076,nssv16172 M 31 5 4 Samples from several populations that are part of the HapMap project. PTPRN2 NA07029,NA07048,NA12802,NA18537,NA18552,NA18853,NA18860,NA18942,NA19007 nsv512009 7 157132222 157134341 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624556 S 1 0 1 PTPRN2 1 esv22807 7 157132234 157135984 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19922 S 451 0 6 PTPRN2 NA07045,NA11995,NA12156,NA12489,NA15510,NA19190 nsv821230 7 157132234 157135984 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420715 S 1 0 1 PTPRN2 NA10851 esv1627187 7 157132544 157135128 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763014 S 2 0 1 PTPRN2 HuRef esv1351690 7 157135208 157135310 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4333848 S 2 0 1 PTPRN2 HuRef esv268629 7 157141516 157141842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557853,essv2565804,essv2575950,essv2541044,essv2571598,essv2546193,essv2521190,essv2526179,essv2536394,essv2543988,essv2556726,essv2568060,essv2545515,essv2532020,essv2548474,essv2521679,essv2576704,essv2550840,essv2525401,essv2550456,essv2535167,essv2554226,essv2544292,essv2552096,essv2520546,essv2547616,essv2529286,essv2578058,essv2553794,essv2576452,essv2520197,essv2564259,essv2554951,essv2561972,essv2537417,essv2528485,essv2546846,essv2539957,essv2520871,essv2557154,essv2552552,essv2532132,essv2569342,essv2550079,essv2537169,essv2539082,essv2561665,essv2544804,essv2562925,essv2523753,essv2552970,essv2541447,essv2542892,essv2540445,essv2524391,essv2565165,essv2534579,essv2561134,essv2539747,essv2549271,essv2519495,essv2559928,essv2522173,essv2566071,essv2532606,essv2567758,essv2567472,essv2541777,essv2570035,essv2563679,essv2553419,essv2535883,essv2572511,essv2559053,essv2556214,essv2562436,essv2533933,essv2578156,essv2573022,essv2555247,essv2533492,essv2567076,essv2529846,essv2556009,essv2522369,essv2531437,essv2573557,essv2543354,essv2576920,essv2525771,essv2529753,essv2575506,essv2574995,essv2526566,essv2560889,essv2574629,essv2530212,essv2545234,essv2560415,essv2546014,essv2536063,essv2538044,essv2548983,essv2554666,essv2525052,essv2563550 M 157 106 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11920,NA11992,NA11994,NA11995,NA12003,NA12006,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12761,NA12763,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18519,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18576,NA18577,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18871,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18947,NA18949,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19093,NA19099,NA19102,NA19114,NA19137,NA19138,NA19141,NA19172,NA19190,NA19239 esv272948 7 157141517 157141843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582106,essv2582783 M 7 2 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA12878,NA12892 esv33068 7 157141533 157143718 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94439,essv95939,essv95018 M 51 3 0 PTPRN2 21808,22127,22231 esv1159588 7 157141548 157141548 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157590 S 2 1 0 PTPRN2 HuRef esv1129897 7 157143228 157143228 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609708 S 2 1 0 PTPRN2 HuRef dgv1151n67 7 157143790 157210674 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824421,nsv824419 M 31 2 0 PTPRN2 NA18542,NA18949 nsv889595 7 157144208 157298229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546655 S 6533 0 1 PTPRN2 MS17208 esv2752150 7 157145285 157621285 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987081,essv6981908,essv6981907,essv6981906,essv6981905 M 771 1 0 LOC100506585,PTPRN2 BEC_500 nsv523513 7 157148694 157154647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699286 S 2026 0 1 PTPRN2 esv2422331 7 157149022 157546689 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161425 S 181 1 0 LOC100506585,PTPRN2 ND01580 esv989590 7 157152412 157152651 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569784 S 3 0 1 PTPRN2 HuRef esv1002942 7 157152685 157152744 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575435 S 3 0 1 PTPRN2 HuRef dgv1152n67 7 157161324 157200626 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824423,nsv824422 M 31 2 0 PTPRN2 AK12,AK6 nsv8244 7 157169097 157172318 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18673,nssv16202,nssv16220,nssv19514,nssv17008,nssv15834,nssv14951,nssv16848,nssv15545,nssv17521,nssv16067,nssv16803,nssv17016,nssv17289,nssv17129,nssv16546,nssv18831,nssv17438 M 31 16 2 Samples from several populations that are part of the HapMap project. PTPRN2 NA07029,NA07048,NA10847,NA10863,NA12155,NA12740,NA12872,NA18504,NA18517,NA18552,NA18563,NA18564,NA18853,NA18860,NA18975,NA19144,NA19173,NA19240 nsv509230 7 157173028 157271763 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619506,nssv620893,nssv619505 M 4 2 0 PTPRN2 NA10860,NA15510 nsv8245 7 157180019 157183529 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18657 S 31 1 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA19132 essv14331 7 157182985 157306239 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA19194 esv33838 7 157186905 157207326 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98743 S 51 1 0 PTPRN2 21606 nsv365377 7 157196224 157196772 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383955 M 24 PTPRN2 nsv889596 7 157198421 157351457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530600 S 6533 0 1 LOC100506585,PTPRN2 MS10311 nsv366775 7 157201973 157202032 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385353 M 24 PTPRN2 nsv6023 7 157206000 157241012 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3602 S 9 1 0 PTPRN2 NA12878 nsv8246 7 157209889 157211963 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15169,nssv15712,nssv16345,nssv17046 M 31 4 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA10863,NA18572,NA18942,NA18980 esv23204 7 157210597 157212037 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19971 S 451 6 1 PTPRN2 NA11931,NA12006,NA15510,NA18517,NA18861,NA19099,NA19257 esv1387349 7 157211575 157211575 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249232 S 2 1 0 PTPRN2 HuRef esv1148504 7 157211588 157211588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714842 S 2 1 0 PTPRN2 HuRef esv1692507 7 157211589 157211589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971149 S 2 1 0 PTPRN2 HuRef nsv8248 7 157215756 157221694 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16127,nssv16136,nssv15575,nssv15742,nssv20130,nssv15490,nssv17468,nssv17551,nssv17159,nssv18703,nssv15864 M 31 11 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA10847,NA12155,NA12802,NA18504,NA18563,NA18942,NA18975,NA19007,NA19173,NA19221,NA19240 nsv820728 7 157216527 157219912 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420716 S 1 0 1 PTPRN2 NA10851 esv26337 7 157216647 157219772 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12010 S 451 6 11 PTPRN2 NA06985,NA07037,NA11894,NA11931,NA12414,NA12489,NA12749,NA12776,NA12878,NA18505,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19240 esv2129126 7 157216757 157217380 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902051 S 1 0 1 PTPRN2 NA18507 esv1973415 7 157216764 157217961 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586037 S 1 0 1 PTPRN2 NA18507 nsv512010 7 157216798 157218473 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624557 S 1 0 1 PTPRN2 1 esv1175009 7 157217079 157217207 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721222 S 2 0 1 PTPRN2 HuRef nsv366707 7 157217097 157217224 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385285 M 24 PTPRN2 esv1493660 7 157217621 157218673 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236971 S 2 0 1 PTPRN2 HuRef esv1591253 7 157218692 157218820 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4117092 S 2 0 1 PTPRN2 HuRef esv1220750 7 157218914 157218980 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993399 S 2 0 1 PTPRN2 HuRef nsv889597 7 157224887 157263216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543517 S 6533 0 1 PTPRN2 MS16153 nsv365867 7 157225888 157225940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384445 M 24 PTPRN2 esv22520 7 157232197 157235332 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12690 S 451 1 0 PTPRN2 NA06985 dgv7567n71 7 157233179 157311453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889601,nsv889598,nsv889600 M 6533 0 7 PTPRN2 IS32322,IS32888,IS33455,IS34304,IS35484,MS10123,MS11726 nsv366306 7 157233474 157233596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384884 M 24 PTPRN2 nsv889599 7 157237521 157278466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538413,nssv1534427,nssv1588205 M 6533 0 3 PTPRN2 IS38176,MS11579,MS13727 nsv889602 7 157237521 157343101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549735 S 6533 0 1 LOC100506585,PTPRN2 MS18276 nsv522408 7 157240145 157243598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695190 S 2026 0 1 PTPRN2 nsv521980 7 157242599 157243598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694747 S 2026 0 1 PTPRN2 nsv509231 7 157290965 157394216 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619507 S 4 1 0 LOC100506585,PTPRN2 NA10860 nsv8249 7 157291042 157309005 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18462 S 31 1 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA18502 nsv465252 7 157295057 157351457 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541088 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100506585,PTPRN2 HGDP01339 nsv831199 7 157298297 157508619 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446814 S 95 1 0 LOC100506585,PTPRN2 nsv518635 7 157298576 157317812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696084 S 2026 0 1 PTPRN2 esv2597859 7 157321992 157323025 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285644 S 1 1 0 PTPRN2 NA18507 esv1165452 7 157322514 157322514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100404 S 2 1 0 PTPRN2 HuRef esv1600304 7 157322541 157322541 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782331 S 2 1 0 PTPRN2 HuRef nsv889603 7 157327683 157343101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576696,nssv1535504 M 6533 0 2 LOC100506585,PTPRN2 IS34235,MS12262 nsv889604 7 157327683 157351457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538618 S 6533 0 1 LOC100506585,PTPRN2 MS13770 esv270958 7 157336961 157337046 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513880 S 157 1 0 Samples from several populations that are part of the HapMap project. PTPRN2 NA19143 esv21952 7 157342733 157345568 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20539 S 451 1 6 LOC100506585,PTPRN2 NA06985,NA11993,NA15510,NA18505,NA18907,NA18916,NA19129 esv2473924 7 157343344 157345941 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240470 S 1 0 1 LOC100506585,PTPRN2 NA18507 esv1585173 7 157343529 157343529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140306 S 2 1 0 LOC100506585,PTPRN2 HuRef esv996958 7 157343543 157345568 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586677 S 3 1 0 LOC100506585,PTPRN2 HuRef esv1455252 7 157343674 157344080 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4341937 S 2 0 1 LOC100506585,PTPRN2 HuRef esv1095072 7 157344319 157344386 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770458 S 2 0 1 LOC100506585,PTPRN2 HuRef esv1652062 7 157352609 157352609 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691052 S 2 1 0 PTPRN2 HuRef esv2119297 7 157358769 157359350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990327 S 1 0 1 PTPRN2 NA18507 esv2182751 7 157366469 157366902 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858121 S 1 0 1 PTPRN2 NA18507 esv987843 7 157372278 157372278 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585342 S 3 1 0 PTPRN2 HuRef esv1767698 7 157372298 157372298 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001639 S 2 1 0 PTPRN2 HuRef esv1073346 7 157372976 157372976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699350 S 2 1 0 PTPRN2 HuRef dgv7568n71 7 157380080 157406005 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889605,nsv889606 M 6533 0 2 PTPRN2 IS32841,MS18276 esv1951528 7 157380597 157381005 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575636 S 1 0 1 PTPRN2 NA18507 nsv889607 7 157382688 157459567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585873 S 6533 0 1 PTPRN2 IS37646 nsv889608 7 157385952 157415670 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570733 S 6533 0 1 PTPRN2 IS32322 esv2188727 7 157387137 157387560 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616419 S 1 0 1 PTPRN2 NA18507 esv3409 7 157387148 157387518 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25850 S 1 0 1 Single Asian sample YH PTPRN2 YH nsv889609 7 157393375 157427075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534708 S 6533 0 1 PTPRN2 MS11726 esv4996 7 157410006 157410787 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27437 S 1 0 1 Single Asian sample YH PTPRN2 YH esv1000700 7 157411537 157411537 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576380 S 3 1 0 PTPRN2 HuRef esv29721 7 157412405 157413315 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17960 S 451 0 4 PTPRN2 NA11894,NA11931,NA12044,NA15510 dgv849n27 7 157415807 157495433 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465254,nsv465253,nsv465256,nsv465257,nsv465255 M 1557 5 0 PTPRN2 1780862480_A,HGDP00600,HGDP00644,HGDP00668,HGDP00670 nsv507431 7 157421788 157427788 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617756,nssv620399 M 4 2 0 PTPRN2 CHM,NA15510 nsv512011 7 157424976 157428117 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624558 S 1 0 1 PTPRN2 1 esv2752151 7 157425285 157528021 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987235,essv6985364,essv6985365 M 771 1 0 PTPRN2 SPC_153 esv26772 7 157425869 157427130 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11060,esv16313 M 451 0 13 PTPRN2 NA11993,NA12006,NA12287,NA12776,NA15510,NA18502,NA18523,NA18858,NA18861,NA18907,NA19129,NA19147,NA19225 esv8571 7 157426166 157426868 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31012 S 1 0 1 PTPRN2 SJK nsv365835 7 157426574 157426846 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384413 M 24 PTPRN2 nsv470401 7 157427075 157495433 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546976 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRN2 HGDP00600 nsv519942 7 157427075 157495433 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698180,nssv686042,nssv659580 M 2026 2 1 PTPRN2 esv1281811 7 157439637 157439727 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084513 S 2 0 1 PTPRN2 HuRef esv1544675 7 157439959 157439959 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712050 S 2 1 0 PTPRN2 HuRef nsv889610 7 157448576 157523437 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546656 S 6533 0 1 PTPRN2 MS17208 esv1140766 7 157458230 157458230 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157624 S 2 1 0 PTPRN2 HuRef esv1005454 7 157467726 157467777 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566249 S 3 0 1 PTPRN2 HuRef esv1643403 7 157467768 157467820 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332184 S 2 0 1 PTPRN2 HuRef esv1099856 7 157469870 157469870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605995 S 2 1 0 PTPRN2 HuRef esv1390782 7 157469885 157469885 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893890 S 2 1 0 PTPRN2 HuRef nsv889611 7 157475469 157602536 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530601 S 6533 0 1 PTPRN2 MS10311 esv26619 7 157480063 157480758 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15748 S 451 1 0 PTPRN2 NA18505 esv1482349 7 157480197 157480439 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847655 S 2 0 1 PTPRN2 HuRef esv1524117 7 157486242 157486242 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041388 S 2 1 0 PTPRN2 HuRef esv2370566 7 157518409 157518832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4987620 S 1 0 1 PTPRN2 NA18507 esv1006616 7 157528817 157528817 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577698 S 3 1 0 PTPRN2 HuRef esv1186905 7 157534079 157534079 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3941608 S 2 1 0 PTPRN2 HuRef esv1482011 7 157534209 157534209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243360 S 2 1 0 PTPRN2 HuRef esv1538186 7 157534258 157534258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614499 S 2 1 0 PTPRN2 HuRef esv2570529 7 157534406 157534752 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277468 S 1 1 0 PTPRN2 NA18507 nsv509232 7 157537350 157608676 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619508 S 4 1 0 PTPRN2 NA10860 esv2648813 7 157543485 157546109 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341104 S 1 0 1 PTPRN2 NA18507 nsv820523 7 157543653 157545933 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420717 S 1 0 1 PTPRN2 NA10851 esv28985 7 157543653 157547180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10102 S 451 0 5 PTPRN2 NA18861,NA18907,NA18909,NA19099,NA19129 esv1537965 7 157543919 157543919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4214346 S 2 1 0 PTPRN2 HuRef esv1094778 7 157543950 157543950 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320630 S 2 1 0 PTPRN2 HuRef esv3684 7 157556298 157556850 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26125 S 1 0 1 Single Asian sample YH PTPRN2 YH esv1777704 7 157556403 157556504 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075814 S 2 0 1 PTPRN2 HuRef esv1253259 7 157556859 157556859 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732080 S 2 1 0 PTPRN2 HuRef esv1668845 7 157556871 157556871 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876774 S 2 1 0 PTPRN2 HuRef nsv6024 7 157569394 157588735 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1698 S 9 1 0 PTPRN2 NA18555 esv28020 7 157569516 157575912 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19954,esv12382 M 451 2 6 PTPRN2 NA06985,NA12006,NA12044,NA12749,NA19099,NA19108,NA19225,NA19257 esv2602791 7 157572633 157577172 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253324 S 1 0 1 PTPRN2 NA18507 nsv821081 7 157572991 157575715 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420718 S 1 0 1 PTPRN2 NA10851 esv994490 7 157573046 157575676 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586550 S 3 0 1 PTPRN2 HuRef esv1501716 7 157577387 157577387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879926 S 2 1 0 PTPRN2 HuRef esv2020339 7 157578404 157578776 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968540 S 1 0 1 PTPRN2 NA18507 esv26534 7 157584343 157585215 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14297 S 451 1 2 PTPRN2 NA15510,NA18861,NA18916 esv1007316 7 157584508 157585215 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586248 S 3 0 1 PTPRN2 HuRef esv24570 7 157589659 157593894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20496 S 451 0 1 PTPRN2 NA19225 esv999497 7 157590647 157590700 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568808 S 3 0 1 PTPRN2 HuRef esv1154072 7 157590721 157590775 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887948 S 2 0 1 PTPRN2 HuRef nsv510972 7 157608676 157699329 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618659 S 4 0 0 PTPRN2 CHM esv991166 7 157611616 157611830 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580043 S 3 0 1 PTPRN2 HuRef nsv831200 7 157615443 157745751 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446815 S 95 0 1 PTPRN2 esv2472439 7 157615916 157616011 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360230 S 1 0 1 PTPRN2 NA18507 nsv509233 7 157621674 157699329 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619509,nssv620894,nssv623522 M 4 3 0 PTPRN2 NA10860,NA15510,NA18994 esv995097 7 157630018 157636575 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564643 S 3 1 0 PTPRN2 HuRef nsv821497 7 157632220 157635484 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420719 S 1 1 0 PTPRN2 NA10851 esv23469 7 157632220 157637222 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14674,esv10505 M 451 5 3 PTPRN2 NA11894,NA11993,NA12749,NA18505,NA18861,NA19108,NA19225,NA19257 nsv889612 7 157632641 157878902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586617 S 6533 1 0 PTPRN2 IS37884 esv1617552 7 157633542 157633542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3848874 S 2 1 0 PTPRN2 HuRef esv1434953 7 157633813 157634117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192841 S 2 0 1 PTPRN2 HuRef nsv6025 7 157635288 157639974 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6183 S 9 1 0 PTPRN2 NA12156 esv1001058 7 157636305 157639352 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564320 S 3 1 0 PTPRN2 HuRef esv1663585 7 157636568 157636568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365438 S 2 1 0 PTPRN2 HuRef esv1420305 7 157636770 157636954 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118806 S 2 0 1 PTPRN2 HuRef esv2634564 7 157640457 157641541 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360565 S 1 1 0 PTPRN2 NA18507 esv1478003 7 157641050 157641050 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097231 S 2 1 0 PTPRN2 HuRef esv28090 7 157643896 157644846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11827 S 451 0 5 PTPRN2 NA18508,NA18523,NA19099,NA19108,NA19257 nsv365303 7 157644542 157644677 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv383881 M 24 PTPRN2 esv1552639 7 157649813 157649875 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009333 S 2 0 1 PTPRN2 HuRef esv1185910 7 157650531 157650531 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327742 S 2 1 0 PTPRN2 HuRef nsv512931 7 157652605 157652667 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625580 S 1 1 0 PTPRN2 1 esv2160851 7 157658097 157658555 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765195 S 1 0 1 PTPRN2 NA18507 esv28383 7 157673680 157674210 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14587 S 451 0 1 PTPRN2 NA06985 nsv6026 7 157696028 157726167 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8451 S 9 0 1 PTPRN2 NA12156 esv2430415 7 157721570 157723758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282071 S 1 0 1 PTPRN2 NA18507 dgv7569n71 7 157721662 157768530 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889615,nsv889613 M 6533 0 3 PTPRN2 MS10769,MS14485,MS18276 nsv512012 7 157721670 157723262 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624559 S 1 0 1 PTPRN2 1 esv990979 7 157721887 157723436 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563728 S 3 0 1 PTPRN2 HuRef esv2093583 7 157722052 157723399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913946 S 1 0 1 PTPRN2 NA18507 esv5015 7 157722205 157723339 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27456 S 1 0 1 Single Asian sample YH PTPRN2 YH esv996959 7 157722236 157723209 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576321 S 3 0 1 PTPRN2 HuRef esv1787465 7 157722243 157723217 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587548 S 2 0 1 PTPRN2 HuRef esv5555 7 157722252 157723210 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27996 S 1 0 1 PTPRN2 SJK dgv7570n71 7 157724510 157878902 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889614,nsv889623,nsv889617 M 6533 0 3 PTPRN2 IS41634,MS16153,MS17208 dgv7571n71 7 157728545 157807303 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889616,nsv889622 M 6533 0 2 PTPRN2 IS32322,IS33504 esv2374779 7 157730488 157730888 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4564101 S 1 0 1 PTPRN2 NA18507 esv26603 7 157730624 157732428 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15659 S 451 0 1 PTPRN2 NA18858 esv3956 7 157734216 157734492 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26397 S 1 0 1 Single Asian sample YH PTPRN2 YH dgv7572n71 7 157737296 157780453 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889618,nsv889621,nsv889620,nsv889619 M 6533 0 4 PTPRN2 IS32888,IS33684,IS39233,MS10311 esv2429042 7 157738721 157740681 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245510 S 1 0 1 PTPRN2 NA18507 nsv512013 7 157739169 157740252 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624560 S 1 0 1 PTPRN2 1 esv2193160 7 157739219 157740260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641117 S 1 0 1 PTPRN2 NA18507 esv4239 7 157739303 157739948 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26680 S 1 0 1 Single Asian sample YH PTPRN2 YH esv8654 7 157739315 157740138 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31095 S 1 0 1 PTPRN2 SJK esv1008117 7 157739392 157740082 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586402 S 3 1 0 PTPRN2 HuRef esv26693 7 157739392 157740162 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11017 S 451 25 0 PTPRN2 NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA19129,NA19147,NA19225,NA19240,NA19257 nsv820686 7 157739392 157740162 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420720 S 1 0 1 PTPRN2 NA10851 esv4672 7 157745243 157745601 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27113 S 1 0 1 Single Asian sample YH PTPRN2 YH esv1001208 7 157745266 157745423 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566655 S 3 0 1 PTPRN2 HuRef esv1512306 7 157745339 157745497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4232412 S 2 0 1 PTPRN2 HuRef dgv7573n71 7 157745941 157840467 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889624,nsv889626 M 6533 0 2 PTPRN2 IS33797,MS13770 esv991402 7 157746954 157757969 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565724 S 3 0 1 PTPRN2 HuRef nsv366062 7 157751465 157751465 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384640 M 24 PTPRN2 nsv889625 7 157753078 157813945 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596038 S 6533 0 1 PTPRN2 IS40396 esv1071067 7 157756305 157756360 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766768 S 2 0 1 PTPRN2 HuRef esv21963 7 157758607 157759977 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17046 S 451 0 6 PTPRN2 NA18517,NA18523,NA18858,NA18907,NA19114,NA19257 esv2225406 7 157761478 157762040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758568 S 1 0 1 PTPRN2 NA18507 esv1032734 7 157761678 157761884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3666867 S 2 0 1 PTPRN2 HuRef esv997534 7 157761683 157761888 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575033 S 3 0 1 PTPRN2 HuRef nsv831201 7 157769078 157953883 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446816 S 95 0 1 PTPRN2 esv2164228 7 157780515 157780967 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604100 S 1 0 1 PTPRN2 NA18507 esv998111 7 157780679 157780934 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570359 S 3 0 1 PTPRN2 HuRef esv1259869 7 157780703 157780959 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304100 S 2 0 1 PTPRN2 HuRef dgv7574n71 7 157780704 157863077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889628,nsv889627,nsv889629,nsv889631 M 6533 0 4 PTPRN2 MS10311,MS11237,MS11467,MS18276 nsv6027 7 157796308 157833578 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9914 S 9 0 1 PTPRN2 NA18507 nsv889630 7 157796605 157838367 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567444 S 6533 0 1 PTPRN2 IS31082 esv1244297 7 157797683 157797735 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3677881 S 2 0 1 PTPRN2 HuRef nsv509234 7 157799246 157973382 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619510 S 4 1 0 PTPRN2 NA10860 esv29708 7 157800329 157801007 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11256 S 451 1 0 PTPRN2 NA18858 esv1558426 7 157800513 157800513 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927333 S 2 1 0 PTPRN2 HuRef esv1951434 7 157805257 157805799 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505862 S 1 0 1 PTPRN2 NA18507 esv5043 7 157805259 157805724 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27484 S 1 0 1 Single Asian sample YH PTPRN2 YH esv6030 7 157805304 157805661 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28471 S 1 0 1 PTPRN2 SJK nsv442294 7 157810312 157824926 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PTPRN2 esv33849 7 157811302 157870625 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98929,essv100817 M 51 2 0 PTPRN2 21606,21656 nsv515043 7 157813696 157827664 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627055 S 1414 0 0 PTPRN2 esv26378 7 157814315 157828171 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20243 S 451 16 3 PTPRN2 NA06985,NA11894,NA11931,NA11993,NA12006,NA12239,NA12749,NA12828,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA19108,NA19147,NA19190,NA19257 esv2594488 7 157815236 157828650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382793 S 1 0 1 PTPRN2 NA18507 esv997326 7 157815705 157817651 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565337 S 3 1 0 PTPRN2 HuRef esv1550816 7 157816857 157816857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927856 S 2 1 0 PTPRN2 HuRef nsv366744 7 157819638 157820194 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385322 M 24 PTPRN2 dgv7575n71 7 157822308 157908408 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889635,nsv889632 M 6533 0 3 PTPRN2 IS32841,IS38425,MS10123 esv990816 7 157823209 157824005 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578565 S 3 0 1 PTPRN2 HuRef esv1621516 7 157823672 157823764 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785379 S 2 0 1 PTPRN2 HuRef esv1064724 7 157824361 157824453 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4237043 S 2 0 1 PTPRN2 HuRef esv1526404 7 157824522 157824614 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757242 S 2 0 1 PTPRN2 HuRef esv1609406 7 157825237 157825329 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4225194 S 2 0 1 PTPRN2 HuRef nsv366337 7 157826351 157826609 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384915 M 24 PTPRN2 dgv7576n71 7 157828965 157861996 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889634,nsv889633 M 6533 0 14 PTPRN2 IS31045,IS32322,IS32888,IS33504,IS33684,IS35484,IS37646,IS38176,IS40230,MS10126,MS10769,MS11579,MS12202,MS13727 nsv889636 7 157828965 158062191 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559354 S 6533 1 0 MIR595,PTPRN2 MS23886 esv1680668 7 157829097 157829097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018189 S 2 1 0 PTPRN2 HuRef esv1401307 7 157833948 157833948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291978 S 2 1 0 PTPRN2 HuRef esv2436240 7 157834051 157835585 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343102 S 1 0 1 PTPRN2 NA18507 esv987957 7 157834411 157834811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571244 S 3 0 1 PTPRN2 HuRef esv1682665 7 157834533 157834784 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187079 S 2 0 1 PTPRN2 HuRef esv1566857 7 157834805 157834955 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628808 S 2 0 1 PTPRN2 HuRef esv1438946 7 157837650 157837650 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3877461 S 2 1 0 PTPRN2 HuRef esv23833 7 157845308 157846947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13849 S 451 0 2 PTPRN2 NA18502,NA18916 nsv821219 7 157845308 157846947 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420721 S 1 1 0 PTPRN2 NA10851 esv2325675 7 157845376 157845884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826021 S 1 0 1 PTPRN2 NA18507 esv993502 7 157845680 157847432 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563472 S 3 1 0 PTPRN2 HuRef esv1762513 7 157846181 157846496 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3665853 S 2 0 1 PTPRN2 HuRef esv1341538 7 157846554 157846812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596403 S 2 0 1 PTPRN2 HuRef nsv520895 7 157848020 157872283 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697675 S 2026 0 1 PTPRN2 esv988181 7 157872967 157872967 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575555 S 3 1 0 PTPRN2 HuRef esv1742476 7 157873011 157873011 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651017 S 2 1 0 PTPRN2 HuRef esv25551 7 157880786 157881306 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14159 S 451 1 0 PTPRN2 NA18523 nsv512932 7 157880787 157881363 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625581 S 1 1 0 PTPRN2 1 esv990226 7 157883009 157888174 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564689 S 3 0 1 PTPRN2 HuRef esv25118 7 157892527 157893167 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16731 S 451 0 2 PTPRN2 NA15510,NA19114 dgv7577n71 7 157893546 157949409 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889637,nsv889638 M 6533 2 0 PTPRN2 IS38515,IS39243 esv7545 7 157896247 157896327 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29986 S 1 1 0 PTPRN2 SJK esv1617560 7 157896381 157896381 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4336702 S 2 1 0 PTPRN2 HuRef esv5759 7 157896403 157896503 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28200 S 1 1 0 PTPRN2 SJK esv2569223 7 157902386 157904046 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219512 S 1 0 1 PTPRN2 NA18507 esv8193 7 157902472 157904310 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30634 S 1 0 1 PTPRN2 SJK esv2225893 7 157910555 157911146 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757501 S 1 0 1 PTPRN2 NA18507 esv25476 7 157910574 157913448 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13213 S 451 0 13 PTPRN2 NA06985,NA12044,NA12156,NA12749,NA12828,NA15510,NA18517,NA18523,NA18907,NA18909,NA18916,NA19147,NA19257 nsv366114 7 157910606 157911055 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384692 M 24 PTPRN2 esv1376066 7 157910643 157910743 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012915 S 2 0 1 PTPRN2 HuRef nsv366641 7 157911116 157911365 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385219 M 24 PTPRN2 esv1071922 7 157911176 157913223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850660 S 2 0 1 PTPRN2 HuRef esv1286519 7 157913273 157913323 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183113 S 2 0 1 PTPRN2 HuRef esv2032123 7 157925703 157926709 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947071 S 1 0 1 PTPRN2 NA18507 esv2608856 7 157927031 157927978 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268636 S 1 1 0 PTPRN2 NA18507 esv4054 7 157938416 157939049 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26495 S 1 0 1 Single Asian sample YH PTPRN2 YH esv1469445 7 157938573 157938877 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830363 S 2 0 1 PTPRN2 HuRef esv1557291 7 157939396 157939396 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926977 S 2 1 0 PTPRN2 HuRef esv1380040 7 157941164 157941164 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889190 S 2 1 0 PTPRN2 HuRef esv1403668 7 157941342 157941342 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244686 S 2 1 0 PTPRN2 HuRef esv3560 7 157942691 157943266 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26001 S 1 0 1 Single Asian sample YH PTPRN2 YH esv1003874 7 157942968 157943124 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569199 S 3 0 1 PTPRN2 HuRef esv1917131 7 157945082 157945513 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842359 S 1 0 1 PTPRN2 NA18507 esv1134346 7 157945795 157945868 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269505 S 2 0 1 PTPRN2 HuRef esv7374 7 157947362 157947416 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29815 S 1 1 0 PTPRN2 SJK esv7955 7 157947394 157947446 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30396 S 1 1 0 PTPRN2 SJK esv1207597 7 157947524 157947524 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330652 S 2 1 0 PTPRN2 HuRef esv1450913 7 157949612 157949675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838700 S 2 0 1 PTPRN2 HuRef esv1782223 7 157954487 157954487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004302 S 2 1 0 PTPRN2 HuRef nsv889639 7 157963900 158057346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549739 S 6533 0 1 MIR595,PTPRN2 MS18276 dgv7578n71 7 157964403 158318790 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889640,nsv889643,nsv889646 M 6533 3 0 ESYT2,MIR595,NCAPG2,PTPRN2 IS34786,IS37884,MS14938 esv1587341 7 157970969 157970969 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3962081 S 2 1 0 PTPRN2 HuRef nsv889641 7 157973396 158099152 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546658 S 6533 0 1 MIR595,PTPRN2 MS17208 nsv511365 7 157979098 157991855 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625949 S 1 0 1 PTPRN2 1 esv23376 7 157981659 157982489 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13187 S 451 1 0 PTPRN2 NA06985 nsv509236 7 158001783 158015662 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619511 S 4 1 0 PTPRN2 NA10860 esv27556 7 158006759 158010154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20593,esv19696,esv11586 M 451 0 28 PTPRN2 NA11894,NA11931,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv4791 7 158006955 158007463 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27232 S 1 0 1 Single Asian sample YH PTPRN2 YH esv1435366 7 158007067 158007349 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3984545 S 2 0 1 PTPRN2 HuRef esv1313788 7 158007370 158007464 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882850 S 2 0 1 PTPRN2 HuRef esv1189905 7 158007530 158007530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036158 S 2 1 0 PTPRN2 HuRef esv1212288 7 158007544 158007544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4258836 S 2 1 0 PTPRN2 HuRef esv1539719 7 158007611 158007611 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833773 S 2 1 0 PTPRN2 HuRef dgv7579n71 7 158018848 158099152 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889645,nsv889642 M 6533 0 2 PTPRN2 MS10123,MS11306 nsv889644 7 158018848 158432603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547409 S 6533 1 0 ESYT2,NCAPG2,PTPRN2,WDR60 MS17371 nsv510974 7 158024681 158115104 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618660 S 4 0 0 PTPRN2 CHM esv991388 7 158040390 158040698 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563626 S 3 1 0 PTPRN2 HuRef nsv509237 7 158067454 158115104 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620895,nssv623523,nssv619512 M 4 3 0 PTPRN2 NA10860,NA15510,NA18994 esv23992 7 158087608 158088153 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19361 S 451 2 0 "" NA18858,NA19225 esv1002284 7 158122962 158122962 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583862 S 3 1 0 NCAPG2 HuRef nsv438013 7 158130947 158133036 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469580,nssv469581,nssv469582 M 269 0 3 Samples from several populations that are part of the HapMap project. NCAPG2 NA18566,NA18593,NA18947 esv275466 7 158133094 158137395 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585373,essv2585885 M 1250 1 1 NCAPG2 esv2560438 7 158140518 158141635 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210003 S 1 1 0 NCAPG2 NA18507 esv1010957 7 158141129 158141129 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566308 S 3 1 0 NCAPG2 HuRef nsv507432 7 158143885 158149885 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623025,nssv620402 M 4 2 0 NCAPG2 NA15510,NA18994 esv2229751 7 158152618 158153121 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900892 S 1 0 1 NCAPG2 NA18507 esv22916 7 158152792 158153838 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18974 S 451 5 2 NCAPG2 NA06985,NA12414,NA12828,NA12878,NA15510,NA18502,NA19240 esv1218051 7 158152915 158152915 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4244091 S 2 1 0 NCAPG2 HuRef esv993130 7 158160260 158171029 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563594 S 3 0 1 NCAPG2 HuRef esv25694 7 158188876 158197703 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12366,esv21182 M 451 0 11 NCAPG2 NA12006,NA18502,NA18508,NA18523,NA18861,NA19099,NA19129,NA19147,NA19190,NA19240,NA19257 dgv1153n67 7 158191850 158198187 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824426,nsv824424 M 31 0 2 "" NA18570,NA18997 nsv824425 7 158192016 158196147 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426798,nssv1433841 M 31 0 2 "" AK6,NA18592 esv1001009 7 158192028 158199456 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565817 S 3 0 1 "" HuRef esv5280 7 158193482 158197608 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27721 S 1 0 1 Single Asian sample YH "" YH esv999759 7 158193595 158196147 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586831 S 3 0 1 "" HuRef nsv824427 7 158193595 158196147 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435959,nssv1425872,nssv1424326 M 31 0 3 "" AK4,NA18566,NA18582 nsv824428 7 158193595 158197625 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435201 S 31 0 1 "" NA18942 nsv514461 7 158193792 158196000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627920 S 1414 0 1 "" esv1206237 7 158202587 158202900 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825318 S 2 0 1 "" HuRef esv1603588 7 158206707 158207186 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217076 S 2 0 1 "" HuRef esv2654138 7 158213710 158215437 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183138 S 1 0 1 "" NA18507 esv27406 7 158214239 158217835 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13958,esv10383,esv13158 M 451 0 5 ESYT2 NA18505,NA18508,NA18907,NA19108,NA19225 nsv820889 7 158214467 158215337 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420722 S 1 0 1 "" NA10851 esv1011352 7 158215959 158215959 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581336 S 3 1 0 "" HuRef esv1692977 7 158215986 158215986 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086540 S 2 1 0 "" HuRef nsv819866 7 158218999 158219357 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418859 S 2 0 1 ESYT2 AK1 esv2598484 7 158230298 158231220 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341655 S 1 1 0 ESYT2 NA18507 esv1449096 7 158230786 158230786 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742215 S 2 1 0 ESYT2 HuRef nsv889647 7 158258978 158558805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578696 S 6533 1 0 ESYT2,LOC154822,VIPR2,WDR60 IS34856 nsv889648 7 158258978 158735112 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599776 S 6533 1 0 ESYT2,LOC154822,VIPR2,WDR60 IS41786 nsv824429 7 158266298 158269288 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437540 S 31 0 1 ESYT2 NA18949 nsv824430 7 158266343 158268376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425873 S 31 0 1 ESYT2 AK4 esv3311 7 158267256 158267555 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25752 S 1 0 1 Single Asian sample YH ESYT2 YH nsv518319 7 158269901 158336629 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695750 S 2026 1 0 ESYT2 esv2588508 7 158281805 158283336 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296347 S 1 0 1 ESYT2 NA18507 esv2025911 7 158282193 158282724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554760 S 1 0 1 ESYT2 NA18507 esv4476 7 158282330 158282600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26917 S 1 0 1 Single Asian sample YH ESYT2 YH esv1040592 7 158282401 158282548 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623600 S 2 0 1 ESYT2 HuRef nsv366535 7 158282424 158282473 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385113 M 24 ESYT2 esv1110311 7 158289227 158289507 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098255 S 2 0 1 ESYT2 HuRef esv988575 7 158289233 158289512 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570347 S 3 0 1 ESYT2 HuRef nsv889649 7 158289661 158432603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540619 S 6533 1 0 ESYT2,WDR60 MS14938 nsv366251 7 158289819 158289888 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384829 M 24 ESYT2 nsv527634 7 158318790 158358748 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704103 S 2026 1 0 WDR60 dgv438n21 7 158318790 158452212 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522139,nsv523055 M 2026 2 0 WDR60 esv29148 7 158324090 158324932 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18498 S 451 0 1 "" NA18907 esv1475633 7 158324430 158324520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4146922 S 2 0 1 "" HuRef nsv509238 7 158354330 158427935 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620896,nssv623524,nssv619513 M 4 3 0 WDR60 NA10860,NA15510,NA18994 nsv519749 7 158361336 158742541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697030 S 2026 0 1 LOC154822,VIPR2,WDR60 nsv889650 7 158365380 158432603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578471 S 6533 1 0 WDR60 IS34786 nsv465262 7 158376913 158612946 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541095 S 1557 1 0 LOC154822,VIPR2,WDR60 1780862379_A nsv889651 7 158380759 158489729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599878 S 6533 1 0 WDR60 IS41804 nsv18 7 158386631 158414514 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv18 S 1 1 0 WDR60 NA15510 nsv6028 7 158386631 158414514 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11167 S 9 1 0 WDR60 NA15510 esv1008368 7 158397228 158404405 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564018 S 3 1 0 WDR60 HuRef nsv8250 7 158399629 158403713 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16250,nssv15199,nssv18861,nssv16878,nssv16576,nssv19043,nssv15520,nssv16157,nssv17581,nssv17189,nssv15894,nssv16232,nssv15605,nssv18687,nssv16597 M 31 15 0 Samples from several populations that are part of the HapMap project. WDR60 NA07029,NA10847,NA11830,NA12802,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA19132,NA19173,NA19240 esv28360 7 158400495 158403216 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12573 S 451 11 2 WDR60 NA06985,NA12239,NA15510,NA18505,NA18508,NA18916,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240,NA19257 esv1473673 7 158400966 158401114 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005782 S 2 0 1 WDR60 HuRef esv2492959 7 158401001 158403496 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390604 S 1 0 1 WDR60 NA18507 esv9128 7 158401066 158401186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31569 S 1 0 1 WDR60 SJK esv1742608 7 158401372 158401372 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268766 S 2 1 0 WDR60 HuRef esv1379791 7 158401438 158401438 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022032 S 2 1 0 WDR60 HuRef esv1582813 7 158402622 158402622 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245878 S 2 1 0 WDR60 HuRef esv1245660 7 158402823 158403075 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037556 S 2 0 1 WDR60 HuRef nsv526756 7 158403640 158812247 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703106 S 2026 1 0 LOC154822,VIPR2,WDR60 esv268438 7 158413697 158413802 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498347,essv2497829,essv2499908,essv2506341,essv2508149,essv2508672,essv2511101,essv2503510,essv2502606 M 157 9 0 Samples from several populations that are part of the HapMap project. WDR60 NA18526,NA18555,NA18562,NA18566,NA18579,NA18592,NA18944,NA18947,NA18965 nsv889652 7 158423340 158520087 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546659 S 6533 0 1 LOC154822,VIPR2,WDR60 MS17208 nsv889653 7 158423340 158603390 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543519 S 6533 0 1 LOC154822,VIPR2,WDR60 MS16153 esv27462 7 158435936 158436405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12128 S 451 0 1 "" NA11993 esv1005275 7 158443462 158443462 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585531 S 3 1 0 "" HuRef nsv366807 7 158443464 158443464 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385385 M 24 "" nsv6029 7 158475438 158485136 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1699 S 9 1 0 "" NA18555 nsv889654 7 158482122 158586914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543204 S 6533 0 1 LOC154822,VIPR2 MS16095 dgv7580n71 7 158482122 158640055 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889658,nsv889655 M 6533 0 2 LOC154822,VIPR2 MS13461,MS21182 dgv7581n71 7 158482122 158821424 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889656,nsv889659 M 6533 0 2 LOC154822,VIPR2 IS38840,SP54552 esv1067401 7 158483424 158483935 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3689013 S 2 0 1 "" HuRef esv1687875 7 158483986 158484243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852432 S 2 0 1 "" HuRef nsv889657 7 158501177 158618018 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599879 S 6533 1 0 LOC154822,VIPR2 IS41804 esv2547691 7 158503227 158503869 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178087 S 1 1 0 LOC154822 NA18507 esv1658002 7 158503684 158503684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4096477 S 2 1 0 LOC154822 HuRef nsv366254 7 158503758 158503851 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384832 M 24 LOC154822 nsv820022 7 158519992 158520281 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419758 S 2 0 1 VIPR2 AK1 esv1258689 7 158527145 158527145 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212822 S 2 1 0 VIPR2 HuRef esv2621732 7 158562328 158563752 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198953 S 1 0 1 VIPR2 NA18507 esv1955405 7 158562521 158562921 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502641 S 1 0 1 VIPR2 NA18507 esv2080886 7 158563024 158563356 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854633 S 1 0 1 VIPR2 NA18507 esv28310 7 158572561 158576441 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16920,esv16875 M 451 0 3 VIPR2 NA11894,NA18916,NA19257 esv1585946 7 158587627 158587627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3587350 S 2 1 0 VIPR2 HuRef nsv889660 7 158603541 158821424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596598 S 6533 0 1 VIPR2 IS40573 nsv831202 7 158606459 158787602 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446818 S 95 1 0 VIPR2 esv23771 7 158614596 158615506 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21123 S 451 0 3 VIPR2 NA11993,NA12044,NA15510 esv998866 7 158614622 158614747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567969 S 3 0 1 VIPR2 HuRef nsv435963 7 158618645 158644459 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466423 S 2 0 0 VIPR2 NA15510 esv8515 7 158618711 158649224 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30956 S 1 0 0 VIPR2 SJK nsv889661 7 158621330 158811204 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599686,nssv1547567 M 6533 1 1 VIPR2 IS41769,MS17449 esv28077 7 158637672 158638267 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12919 S 451 2 1 "" NA11993,NA18508,NA18907 nsv507433 7 158641406 158647406 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621898 S 4 1 0 "" NA10860 esv2036628 7 158647493 158647951 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735834 S 1 0 1 "" NA18507 nsv366083 7 158647637 158647731 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384661 M 24 "" nsv509239 7 158673539 158716354 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619514,nssv620897 M 4 2 0 "" NA10860,NA15510 esv25549 7 158688133 158689233 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10563 S 451 2 8 "" NA11894,NA12004,NA12044,NA12239,NA12287,NA12776,NA18505,NA19129,NA19190,NA19240 nsv366691 7 158688777 158688916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv385269 M 24 "" nsv428192 7 158691287 158818116 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451355,nssv451352 M 62 0 2 "" NA19113,NA19189 esv3396 7 158691421 158692552 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25837 S 1 0 1 Single Asian sample YH "" YH esv6423 7 158691955 158692203 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28864 S 1 0 1 "" SJK nsv512014 7 158692704 158693305 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624561 S 1 0 1 "" 1 esv2135466 7 158693944 158694438 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682031 S 1 0 1 "" NA18507 esv28624 7 158694023 158694608 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20815 S 451 0 2 "" NA18523,NA19225 esv1405159 7 158694251 158694332 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247102 S 2 0 1 "" HuRef esv3051 7 158694255 158694762 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25492 S 1 0 1 Single Asian sample YH "" YH nsv365655 7 158694585 158694666 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv384233 M 24 "" nsv519357 7 158742541 158812247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696809 S 2026 0 1 "" esv2210793 7 158799104 158799575 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811054 S 1 0 1 "" NA18507 esv2235489 7 158799927 158801288 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914929 S 1 0 1 "" NA18507 esv5716 7 158802663 158817340 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28157 S 1 0 1 "" SJK nsv436528 7 158802667 158817295 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466424 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv437034 7 158807713 158817948 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466915 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10851 dgv1154n67 7 158808713 158815853 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824432,nsv824433 M 31 2 0 "" AK4,NA18942 nsv8251 7 158809450 158820366 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19544,nssv16833,nssv15550,nssv15635,nssv17106,nssv16187,nssv16280,nssv16262,nssv18733,nssv16627,nssv16908,nssv15229,nssv16166,nssv16635,nssv20160,nssv17319,nssv16606,nssv18891,nssv17498,nssv17219,nssv18717,nssv18492,nssv16264,nssv15924,nssv17611,nssv15802,nssv14981,nssv16375,nssv19073,nssv17038 M 31 30 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 esv27200 7 158810149 158821302 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18368,esv19859 M 451 38 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819541 7 158810284 158815770 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419710 S 2 1 0 "" AK1 nsv820915 7 158810320 158815853 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420723 S 1 0 1 "" NA10851 nsv442082 7 158810402 158812015 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv32741 7 158810518 158821290 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94370,essv94217 M 51 0 2 "" 21808,22394 nsv516608 7 158811204 158812247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660392,nssv653208 M 2026 0 2 "" esv2458190 7 158820353 158820919 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224111 S 1 1 0 "" NA18507 nsv471521 8 2 160543 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547895,nssv547894,nssv547896 M 3 OR4F21,RPL23AP53 esv26079 8 73 160197 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21312,esv10565,esv10457,esv13282,esv20245,esv10188,esv20436,esv15982,esv9891,esv17124,esv11179 M 451 22 14 OR4F21,RPL23AP53 NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv8252 8 1752 12850 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16217 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv8253 8 10326 126606 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15259,nssv16687,nssv17279,nssv15665,nssv18921,nssv17136,nssv15011,nssv17249,nssv16294,nssv16665,nssv15580,nssv16657 M 31 1 9 Samples from several populations that are part of the HapMap project. OR4F21 NA10839,NA10847,NA10863,NA11830,NA12802,NA12872,NA18537,NA18572,NA18860,NA19173 nsv831205 8 30472 188712 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446820,nssv1446819,nssv1446822,nssv1446821,nssv1446823 M 95 0 5 OR4F21,RPL23AP53,ZNF596 nsv428193 8 36943 330422 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451367,nssv451360,nssv451362,nssv451359,nssv451363,nssv451358,nssv451357 M 62 3 4 OR4F21,RPL23AP53,ZNF596 HGDP00449,HGDP00463,HGDP00984,NA18498,NA19096,NA19108,NA19225 dgv2168e1 8 59932 223973 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16152,essv9463,essv22989,essv18204,essv12831,essv10730,essv17894,essv19439,essv14532,essv9344,essv10646,essv8920,essv19258,essv19949,essv15014,essv16761,essv16046,essv15538 M 271 0 0 OR4F21,RPL23AP53,ZNF596 NA07357,NA10838,NA11840,NA12003,NA12057,NA12813,NA18501,NA18505,NA18523,NA18853,NA18855,NA18870,NA18872,NA19100,NA19120,NA19200,NA19202,NA19208 dgv2169e1 8 59932 484890 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10954,esv580,esv588,essv11079 M 271 0 0 C8orf42,FBXO25,OR4F21,RPL23AP53,ZNF596 NA19209,NA19211 nsv820991 8 66830 145180 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420725 S 1 0 1 OR4F21 NA10851 nsv515053 8 106855 106939 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627056 S 1414 0 0 OR4F21 nsv889662 8 136791 209868 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534709 S 6533 0 1 RPL23AP53,ZNF596 MS11726 nsv889663 8 136791 242662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588591 S 6533 1 0 RPL23AP53,ZNF596 IS38219 esv1129618 8 145634 145722 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061635 S 2 0 1 "" HuRef nsv6034 8 151699 186841 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv705 S 9 1 0 RPL23AP53,ZNF596 NA19240 nsv520036 8 154984 199152 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697189 S 2026 1 0 RPL23AP53,ZNF596 nsv527387 8 154984 250716 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703822 S 2026 1 0 RPL23AP53,ZNF596 nsv465263 8 154984 403288 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541096 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBXO25,RPL23AP53,ZNF596 HGDP01414 nsv524542 8 154984 523699 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700492 S 2026 1 0 C8orf42,FBXO25,RPL23AP53,ZNF596 nsv470163 8 154984 612781 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546603 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf42,ERICH1,FBXO25,RPL23AP53,ZNF596 HGDP00602 nsv465264 8 154984 624607 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541097 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf42,ERICH1,FBXO25,RPL23AP53,ZNF596 HGDP00602 nsv831206 8 156973 319315 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446824 S 95 0 1 RPL23AP53,ZNF596 nsv889664 8 164284 197819 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573688 S 6533 1 0 RPL23AP53,ZNF596 IS33491 dgv7582n71 8 169111 270645 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889665,nsv889666 M 6533 2 0 RPL23AP53,ZNF596 IS31302,IS38235 nsv8254 8 169851 176505 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15289 S 31 1 0 Samples from several populations that are part of the HapMap project. RPL23AP53,ZNF596 NA18572 dgv2170e1 8 177639 405401 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10608,essv7923 M 271 0 0 FBXO25,ZNF596 NA19209,NA19211 nsv470164 8 179030 400640 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546604 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBXO25,ZNF596 HGDP01414 dgv240e55 8 180568 400640 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34734,esv34882 M 771 2 0 FBXO25,ZNF596 NA19209,NA19211 nsv889667 8 199152 270645 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590313 S 6533 1 0 "" IS38490 nsv396736 8 206485 206485 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415314 M 24 "" nsv889668 8 209868 405401 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521882 S 6533 1 0 FBXO25 SP52625 nsv889669 8 211922 445360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513041 S 6533 0 1 C8orf42,FBXO25 SP55671 nsv6035 8 212185 257141 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8456 S 9 0 1 "" NA12156 esv25743 8 222152 223442 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13289 S 451 0 1 "" NA11993 esv1008950 8 222246 223190 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565401 S 3 0 1 "" HuRef esv1682760 8 222250 222250 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770875 S 2 1 0 "" HuRef esv1407543 8 222269 223152 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183973 S 2 0 1 "" HuRef essv9303 8 227333 250511 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18852 nsv8255 8 233786 266446 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15319,nssv20190 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18572,NA19221 nsv522050 8 242662 277831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694821 S 2026 0 1 "" esv1278785 8 244664 244909 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3596688 S 2 0 1 "" HuRef nsv528684 8 270645 294569 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705326 S 2026 1 0 "" esv2604873 8 280401 281924 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243142 S 1 0 1 "" NA18507 esv2366446 8 280641 281450 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4643246 S 1 0 1 "" NA18507 essv6400 8 304160 484890 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C8orf42,FBXO25 NA18572 nsv8256 8 313588 317286 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15041,nssv17349,nssv16938,nssv15349 M 31 4 0 Samples from several populations that are part of the HapMap project. "" NA12740,NA12872,NA18564,NA18572 esv23262 8 314452 317471 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12983 S 451 2 0 "" NA11995,NA18916 nsv889670 8 320328 400640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550338 S 6533 1 0 FBXO25 MS18407 nsv527388 8 322993 400640 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703823 S 2026 1 0 FBXO25 esv27875 8 327542 376235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17040 S 451 0 2 FBXO25 NA07045,NA19147 nsv471483 8 329001 389952 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548402,nssv548403,nssv548404 M 3 FBXO25 esv1009875 8 343841 343841 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569370 S 3 1 0 "" HuRef nsv8257 8 345046 346848 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16292,nssv16695,nssv16863,nssv17379,nssv16968,nssv19574 M 31 6 0 Samples from several populations that are part of the HapMap project. FBXO25 NA07029,NA07048,NA12740,NA18517,NA18537,NA18564 nsv889671 8 350081 435791 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521194 S 6533 1 0 C8orf42,FBXO25 SP52271 dgv7583n71 8 356090 617181 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889673,nsv889672 M 6533 2 0 C8orf42,ERICH1,FBXO25 SP53687,SP54620 nsv8259 8 366066 380414 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15379 S 31 1 0 Samples from several populations that are part of the HapMap project. FBXO25 NA18572 esv1419160 8 366924 366924 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033428 S 2 1 0 FBXO25 HuRef nsv523968 8 411858 415541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699820 S 2026 0 1 "" nsv520480 8 416479 420397 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681882,nssv706083,nssv671760 M 2026 1 2 "" nsv519615 8 427030 440369 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696952 S 2026 0 1 C8orf42 nsv889674 8 427030 511306 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528333 S 6533 1 0 C8orf42 SP81197 nsv465265 8 427030 523699 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541098 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf42 HGDP00169 nsv889675 8 445360 663561 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581493 S 6533 1 0 C8orf42,ERICH1 IS35594 esv5525 8 468381 468653 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27966 S 1 0 1 C8orf42 SJK nsv824434 8 478437 493899 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428406 S 31 1 0 C8orf42 AK10 nsv510975 8 494340 595783 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621603 S 4 0 0 "" NA15510 nsv507434 8 505000 511000 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623026,nssv617757 M 4 2 0 "" CHM,NA18994 nsv512933 8 532965 534287 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625582 S 1 1 0 "" 1 nsv824435 8 533399 533981 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429927 S 31 1 0 "" AK14 esv1209089 8 533792 533792 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173173 S 2 1 0 "" HuRef nsv438014 8 534755 588391 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469602,nssv469600,nssv469586,nssv469593,nssv469599,nssv469595,nssv469603,nssv469610,nssv469588,nssv469606,nssv469612,nssv469597,nssv469587,nssv469611,nssv469592,nssv469604,nssv469608,nssv469591,nssv469594,nssv469590,nssv469583,nssv469589,nssv469598,nssv469601,nssv469605,nssv469609,nssv469584 M 269 0 26 Samples from several populations that are part of the HapMap project. "" NA18547,NA18550,NA18576,NA18593,NA18594,NA18608,NA18609,NA18611,NA18612,NA18622,NA18632,NA18635,NA18949,NA18953,NA18956,NA18960,NA18961,NA18966,NA18972,NA18974,NA18975,NA18976,NA18987,NA18995,NA18998,NA19000 nsv527594 8 539870 580861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704055 S 2026 0 1 "" nsv508494 8 563664 595783 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617357 S 4 0 1 "" CHM nsv889676 8 568742 885841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530604 S 6533 0 1 ERICH1 MS10311 esv28613 8 569277 571467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21429 S 451 0 9 "" NA11894,NA11993,NA12006,NA12156,NA12287,NA18907,NA18916,NA19147,NA19257 esv2136144 8 569561 570035 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943827 S 1 0 1 "" NA18507 esv1473560 8 570116 570116 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167744 S 2 1 0 "" HuRef esv1750750 8 570586 570586 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884444 S 2 1 0 "" HuRef nsv6036 8 577296 606629 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3606,nssv10593,nssv706,nssv6191,nssv1704 M 9 0 5 ERICH1 NA12156,NA12878,NA18555,NA18956,NA19240 esv2306716 8 579558 580031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601313 S 1 0 1 "" NA18507 nsv465267 8 580861 597779 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541099 S 1557 1 0 "" NINDS_90 esv33320 8 582266 584720 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99888 S 51 1 0 "" 22086 nsv436581 8 583781 589514 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466425 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv997433 8 583933 590839 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563886 S 3 0 1 "" HuRef esv2504194 8 583958 590181 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229988 S 1 0 1 "" NA18507 nsv512015 8 584068 589823 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624562 S 1 0 1 "" 1 nsv820079 8 584128 589628 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419711 S 2 1 0 "" AK1 dgv1155n67 8 584159 589454 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824438,nsv824436,nsv824437,nsv824439 M 31 0 12 "" AK10,AK12,NA18537,NA18547,NA18552,NA18570,NA18592,NA18949,NA18951,NA18969,NA18973,NA18999 nsv821464 8 584159 589454 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420726 S 1 0 1 "" NA10851 esv2247917 8 584219 589600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723709 S 1 0 1 "" NA18507 esv4949 8 584341 589475 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27390 S 1 0 1 Single Asian sample YH "" YH nsv499252 8 584400 589416 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586060 S 9 0 1 "" nsv397750 8 584401 589414 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416328 M 24 "" nsv514462 8 584403 589385 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627921 S 1414 0 1 "" esv28261 8 584449 589454 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16762 S 451 22 0 "" NA11894,NA11931,NA11993,NA11995,NA12044,NA12239,NA12414,NA12489,NA12749,NA18502,NA18505,NA18517,NA18523,NA18858,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225 esv32600 8 584720 590672 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94458,essv97236,essv99772,essv98032,essv100619,essv99548 M 51 5 1 "" 21808,22075,22086,22259,22298,22335 dgv30n14 8 584761 588391 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433490,nsv433487,nsv433485,nsv433486,nsv433488 M 9 0 5 "" NA12156,NA12878,NA15510,NA18956,NA19240 esv2421855 8 584761 588391 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111783,essv5018948,essv5127695,essv5104517,essv5082032,essv5121918,essv5134285,essv5085308,essv5149399,essv5043667,essv5058054,essv5124271,essv5111166,essv5106970,essv5097667,essv5153824,essv5143774,essv5107533,essv5039393,essv5126378,essv5125007,essv5031524,essv5080891,essv5155909,essv5091670,essv5120548,essv5138153,essv5153702,essv5056688,essv5072643,essv5067456,essv5030102,essv5119899,essv5067556,essv5086565,essv5078691,essv5036803,essv5152089,essv5065315,essv5004089,essv5044787,essv5147389,essv5146560,essv5033900,essv5122329,essv5076602,essv5040853,essv5024923,essv5122298,essv5092373,essv5006485,essv5051303,essv5068103,essv5029925,essv5005855,essv5091248,essv5107869,essv5011064,essv5076751,essv5047608,essv5033379,essv5137670,essv5060836,essv5144249,essv5081018,essv5151665,essv5021335,essv5108347,essv5015185,essv5110068,essv5158494,essv5030243,essv5145865,essv5058438,essv5087534,essv5014565,essv5160094,essv5057374,essv5136153,essv5084214,essv5116273,essv5055281,essv5153136,essv5133355,essv5137570,essv5147875,essv5084543,essv5010931,essv5015432,essv5055933,essv5126759,essv5160050,essv5106665,essv5141222,essv5021894,essv5017228,essv5150971,essv5071166,essv5020218,essv5086167,essv5034565,essv5145786,essv5007510,essv5102317,essv5112600,essv5038097,essv5106163,essv5133097,essv5025866,essv5152857,essv5097651,essv5116862,essv5106585,essv5115343,essv5105476,essv5049449,essv5120907,essv5088672,essv5023989,essv5110423,essv5045592,essv5058249,essv5081095,essv5114492,essv5042137,essv5017726,essv5105656,essv5104320,essv5095598,essv5083965,essv5093544,essv5082113,essv5100023,essv5132554,essv5088841,essv5015126,essv5151237,essv5132856,essv5107609,essv5034629,essv5084277,essv5044383,essv5131818,essv5027150,essv5108603,essv5123880,essv5073673,essv5016748,essv5114317,essv5017439,essv5120755,essv5112532,essv5067881,essv5120439,essv5108220,essv5099946,essv5119358,essv5075901,essv5157432,essv5118013,essv5128602,essv5120552,essv5023839,essv5126804,essv5038876,essv5016419,essv5149173,essv5155147,essv5131087,essv5002717,essv5032823,essv5146340,essv5103084,essv5119735,essv5092218,essv5141560,essv5128508,essv5117976,essv5031879,essv5104556,essv5080293,essv5044834,essv5135031,essv5132532,essv5012408,essv5080606,essv5147031,essv5148119,essv5071741,essv5099049,essv5116113,essv5034377,essv5155853,essv5016103,essv5096681,essv5079032,essv5007122,essv5096320,essv5157045,essv5142434,essv5100425,essv5084300,essv5050748,essv5155272,essv5009015,essv5056138,essv5016592,essv5124684,essv5020204,essv5094632,essv5017662,essv5137171,essv5108446,essv5106127,essv5063067,essv5087794,essv5149513,essv5020127,essv5100469,essv5144265,essv5115452,essv5034337,essv5011746,essv5151959,essv5108072,essv5149556,essv5065838,essv5100056,essv5040343,essv5053985,essv5021856,essv5143296,essv5078464,essv5064879,essv5082218,essv5142432,essv5056763,essv5102520,essv5081555,essv5132605,essv5078060,essv5121319,essv5065769,essv5086873,essv5089677,essv5086253,essv5111233,essv5091505,essv5015758,essv5110815,essv5155235,essv5117630,essv5121645,essv5050772,essv5005270,essv5140147,essv5134083,essv5027559,essv5148580,essv5032741,essv5053217,essv5022282,essv5139459,essv5044038,essv5043398,essv5056270,essv5050719,essv5146614,essv5004746,essv5009690,essv5138197,essv5048524,essv5144173,essv5131185,essv5074784,essv5136482,essv5015862,essv5003628,essv5002139,essv5056438,essv5138939,essv5105528,essv5062264,essv5123489,essv5119809,essv5078083,essv5073246,essv5050174,essv5071042,essv5059335,essv5142119,essv5154842,essv5029904,essv5061345,essv5045945,essv5089074,essv5154143,essv5049286,essv5091393,essv5048293,essv5060746,essv5049955,essv5140210,essv5074158,essv5139610,essv5053388,essv5093398,essv5054080,essv5048129,essv5061783,essv5028982,essv5132142,essv5108283,essv5130738,essv5104864,essv5022549,essv5041010,essv5088368,essv5024377,essv5156001,essv5041057,essv5133903,essv5085986,essv5144261,essv5064122,essv5099167,essv5072063,essv5078700,essv5026854,essv5125187,essv5129245,essv5074068,essv5104616,essv5077918,essv5159114,essv5146656,essv5017018,essv5002304,essv5026135,essv5068514,essv5057727,essv5025958,essv5087644,essv5113233,essv5069634,essv5073749,essv5121840,essv5156537,essv5003845,essv5062345,essv5015199,essv5100955,essv5135622,essv5035312,essv5136675,essv5067959,essv5138103,essv5022728,essv5095082,essv5093144,essv5043952,essv5136811,essv5042567,essv5012581,essv5128122,essv5023854,essv5115422,essv5034107,essv5041880,essv5093437,essv5146457,essv5011745,essv5080554,essv5058693,essv5021337,essv5010781,essv5143891,essv5151737,essv5010778,essv5009663,essv5033007,essv5140376,essv5033685,essv5147382,essv5124609,essv5135576,essv5157118,essv5082175,essv5079622,essv5006777,essv5090864,essv5118726,essv5029829,essv5099204,essv5058168,essv5140355,essv5141077,essv5122149,essv5016345,essv5153098,essv5086844,essv5019880,essv5013030,essv5078044,essv5022248,essv5089002,essv5048916,essv5078626,essv5014938,essv5135768,essv5002018,essv5120238,essv5053083,essv5137566,essv5111789,essv5096190,essv5033959,essv5039789,essv5132909,essv5048298,essv5037652,essv5029373,essv5060800,essv5117614,essv5023620,essv5111027,essv5040627,essv5009009,essv5083049,essv5026027,essv5106334,essv5088984,essv5097938,essv5015621,essv5160085,essv5093311,essv5141997,essv5030503,essv5110606,essv5017168,essv5111983,essv5060650,essv5055287,essv5037218,essv5091741,essv5094970,essv5155529,essv5072070,essv5023206,essv5052626,essv5013262,essv5142567,essv5116344,essv5009387,essv5150864,essv5127145,essv5057308,essv5139561,essv5060698,essv5081683,essv5064093,essv5010518,essv5112689,essv5027671,essv5097918,essv5159244,essv5035889,essv5123709,essv5021772,essv5080200,essv5030033,essv5068097,essv5025232,essv5057266,essv5002227,essv5077505,essv5029824,essv5020811,essv5157654,essv5064095,essv5048869,essv5125384,essv5037708,essv5008421,essv5084800,essv5062091,essv5061511,essv5059305,essv5038767,essv5011300,essv5140701,essv5111115,essv5059575,essv5098228,essv5105435,essv5110840,essv5015984,essv5036728,essv5061579,essv5121899,essv5059991,essv5090515,essv5102698,essv5160082,essv5029705,essv5067984,essv5103909,essv5073953,essv5104207,essv5039937,essv5060162,essv5024846,essv5041821,essv5150664,essv5124619,essv5025484,essv5043116,essv5079085,essv5066563,essv5144576,essv5003432,essv5100770,essv5050833,essv5122055,essv5092675,essv5060573,essv5004535,essv5157354,essv5113985,essv5085816,essv5037225,essv5144785,essv5058082,essv5141800,essv5062439,essv5077160,essv5110371,essv5133195,essv5099101,essv5129244,essv5125732,essv5040610,essv5077229,essv5112920,essv5057079,essv5037731,essv5121431,essv5140455,essv5149512,essv5103410,essv5138559,essv5034584,essv5061650,essv5039863,essv5145595,essv5020110,essv5084681,essv5067521,essv5044799,essv5134191,essv5068145,essv5136847,essv5147138,essv5028113,essv5099193,essv5087957,essv5020122,essv5053624,essv5018321,essv5079602,essv5072704,essv5128752,essv5137513,essv5128280,essv5144771,essv5064925,essv5129722,essv5087675,essv5008013,essv5092086,essv5147443,essv5099705,essv5033725,essv5153292,essv5093713,essv5027405,essv5105781,essv5056221,essv5002077,essv5002386,essv5150345,essv5026101,essv5120259,essv5152064,essv5058104,essv5044401,essv5096635,essv5010230,essv5014168,essv5100378,essv5028509,essv5133239,essv5052327,essv5049300,essv5128131,essv5062867,essv5110151,essv5039961,essv5131532,essv5021422,essv5062553,essv5012776,essv5158843,essv5009907,essv5090994,essv5146417,essv5026857,essv5050644,essv5089304,essv5013432,essv5117012,essv5009493,essv5156344,essv5033549,essv5116638,essv5002359,essv5092811,essv5114824,essv5039767,essv5078196,essv5148500,essv5018912,essv5060741,essv5153651,essv5099721,essv5045746,essv5051579,essv5102670,essv5051498,essv5077689,essv5120442,essv5080635,essv5041092,essv5056924,essv5002946,essv5071172,essv5123232,essv5150291,essv5157273,essv5072098,essv5008606,essv5030430,essv5129239,essv5067710,essv5131788,essv5113819,essv5130446,essv5055262,essv5138163,essv5093922,essv5078549,essv5062621,essv5095873,essv5053796,essv5028884,essv5066018,essv5130399,essv5018654,essv5055404,essv5008424,essv5124280,essv5035203,essv5159455,essv5070858,essv5147878,essv5019614,essv5024054,essv5102203,essv5078861,essv5004530,essv5080084,essv5076736,essv5140404,essv5068021,essv5110686,essv5019024,essv5071927,essv5064512,essv5148733,essv5007021,essv5046159,essv5063338,essv5093493,essv5132530,essv5022172,essv5088614,essv5085122,essv5081718,essv5079544,essv5073532,essv5134607,essv5019995,essv5155631,essv5056146,essv5091374,essv5011655,essv5097632,essv5136400,essv5107934,essv5136019,essv5120121,essv5057707,essv5120074,essv5075676,essv5011672,essv5035404,essv5126029,essv5051670,essv5009801,essv5034465,essv5037197,essv5089161,essv5082341,essv5155175,essv5099078,essv5073738,essv5099332,essv5011606,essv5079243,essv5135321,essv5159618,essv5140977,essv5052791,essv5120726,essv5004926,essv5123832,essv5068786,essv5069231,essv5055667,essv5073786,essv5037791,essv5159493,essv5068376,essv5015135,essv5144066,essv5114535,essv5032811,essv5091820,essv5121796,essv5157529,essv5074335,essv5038795,essv5136590,essv5112064,essv5119563,essv5119532,essv5073072,essv5046721,essv5016726,essv5077857,essv5079405,essv5015063,essv5094498,essv5022853,essv5137615,essv5040661,essv5099375,essv5032124,essv5041655,essv5047408,essv5068089,essv5020447,essv5077575,essv5131990,essv5061700,essv5035701,essv5052924,essv5009814,essv5125444,essv5029067,essv5087696,essv5035446,essv5108542,essv5004498,essv5026647,essv5111676,essv5085231,essv5129546,essv5101663,essv5037364,essv5135604,essv5006496,essv5100109,essv5083284,essv5027126,essv5060658,essv5141592,essv5153709,essv5006572,essv5132313,essv5122017,essv5160178,essv5125023,essv5156292,essv5047681,essv5149696,essv5072547,essv5039426,essv5091905,essv5141703,essv5063130,essv5039878,essv5005484,essv5124572,essv5111741,essv5082210,essv5124264,essv5024160,essv5083290,essv5062916,essv5122000,essv5096391,essv5124299,essv5118751,essv5051101,essv5009999,essv5090530,essv5159526,essv5073094,essv5085854,essv5158874,essv5133124,essv5025977,essv5018375,essv5002111,essv5018173,essv5018085,essv5047170,essv5148579,essv5128525,essv5064317,essv5002628,essv5063527,essv5042997,essv5037167,essv5037946,essv5117482,essv5034773,essv5014822,essv5143019,essv5004931,essv5029792,essv5067464,essv5003488,essv5062688,essv5088783,essv5075880,essv5026923,essv5087486,essv5104020,essv5117912,essv5050262,essv5008171,essv5088277,essv5122556,essv5044453,essv5056116,essv5097648,essv5134753,essv5048907,essv5135278,essv5094255,essv5065868,essv5027248,essv5146642,essv5118711,essv5064229,essv5156105,essv5016758,essv5057657,essv5018930,essv5032070,essv5148031,essv5126771,essv5073621,essv5005624,essv5057280,essv5108835,essv5074704,essv5085843,essv5091132,essv5138480,essv5098188,essv5134621,essv5133145,essv5006817,essv5095363,essv5053753,essv5049255,essv5002097,essv5026434,essv5068992,essv5158250,essv5003864,essv5106042,essv5032286,essv5117939,essv5042546,essv5113909,essv5137782,essv5008839,essv5126949,essv5069084,essv5144035,essv5026764,essv5154004,essv5070212,essv5121404,essv5137732,essv5120759,essv5005524,essv5026454,essv5074968,essv5117600,essv5040729,essv5094319,essv5102946,essv5117627,essv5125279,essv5144141,essv5005939,essv5119853,essv5141191,essv5076217,essv5085579,essv5037015,essv5133556,essv5046475,essv5056994,essv5045488,essv5064043,essv5021183,essv5132915,essv5003195,essv5047479,essv5042186,essv5156689,essv5074008,essv5058324,essv5061880,essv5092182,essv5152312,essv5114018,essv5050289,essv5024656,essv5158394,essv5094647,essv5150727,essv5002081,essv5159468,essv5050728,essv5021705,essv5003413,essv5114234,essv5122519,essv5069099,essv5021575,essv5101633,essv5130757,essv5135868,essv5089680,essv5144075,essv5021599,essv5101492,essv5005405,essv5059356,essv5107665 M 1184 0 977 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07349,NA07435,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12282,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12489,NA12546,NA12707,NA12708,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17969,NA17972,NA17974,NA17975,NA17976,NA17977,NA17980,NA17981,NA17983,NA17986,NA17987,NA17989,NA17990,NA17993,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18143,NA18144,NA18148,NA18149,NA18151,NA18152,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18162,NA18166,NA18484,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18503,NA18505,NA18506,NA18507,NA18508,NA18509,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18532,NA18536,NA18537,NA18543,NA18545,NA18546,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18562,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18615,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18632,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18643,NA18645,NA18647,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18916,NA18917,NA18924,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18948,NA18949,NA18951,NA18953,NA18954,NA18955,NA18956,NA18957,NA18960,NA18961,NA18962,NA18963,NA18964,NA18966,NA18967,NA18968,NA18969,NA18970,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18998,NA18999,NA19000,NA19002,NA19005,NA19007,NA19009,NA19010,NA19028,NA19031,NA19041,NA19044,NA19046,NA19055,NA19057,NA19058,NA19059,NA19060,NA19062,NA19064,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19078,NA19079,NA19080,NA19084,NA19086,NA19087,NA19093,NA19094,NA19095,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19141,NA19142,NA19143,NA19144,NA19150,NA19151,NA19159,NA19160,NA19161,NA19171,NA19173,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19207,NA19208,NA19209,NA19210,NA19213,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19257,NA19258,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19324,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19381,NA19384,NA19385,NA19390,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19444,NA19446,NA19449,NA19451,NA19452,NA19455,NA19457,NA19463,NA19466,NA19467,NA19469,NA19474,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19702,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19714,NA19716,NA19718,NA19720,NA19722,NA19723,NA19724,NA19725,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19763,NA19771,NA19773,NA19776,NA19777,NA19778,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19818,NA19819,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19914,NA19916,NA19917,NA19918,NA19921,NA19983,NA19985,NA20126,NA20127,NA20128,NA20129,NA20277,NA20279,NA20281,NA20282,NA20284,NA20288,NA20292,NA20295,NA20301,NA20319,NA20322,NA20334,NA20335,NA20336,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20356,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20525,NA20527,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20869,NA20870,NA20871,NA20872,NA20874,NA20875,NA20876,NA20877,NA20879,NA20882,NA20883,NA20884,NA20885,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21301,NA21302,NA21307,NA21309,NA21311,NA21312,NA21313,NA21314,NA21317,NA21320,NA21333,NA21336,NA21339,NA21344,NA21353,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21370,NA21378,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21415,NA21417,NA21418,NA21421,NA21423,NA21425,NA21434,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21475,NA21477,NA21478,NA21479,NA21480,NA21486,NA21487,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21512,NA21513,NA21514,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21528,NA21529,NA21573,NA21574,NA21575,NA21576,NA21577,NA21578,NA21580,NA21582,NA21587,NA21596,NA21599,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21619,NA21631,NA21632,NA21634,NA21636,NA21650,NA21682,NA21683,NA21685,NA21716,NA21718,NA21722,NA21723,NA21733,NA21739,NA21740,NA21741,NA21784,NA21826 nsv824440 8 584937 586594 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427352 S 31 0 1 "" NA18968 nsv824441 8 585994 586448 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423523 S 31 0 1 "" NA18999 nsv824443 8 586149 586594 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430689 S 31 0 1 "" AK16 nsv889677 8 588391 635963 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529390 S 6533 1 0 ERICH1 SP81526 nsv889678 8 588391 691096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573821 S 6533 0 1 ERICH1 IS33504 esv990762 8 598725 604628 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565152 S 3 1 0 ERICH1 HuRef esv21485 8 598950 599895 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11970 S 451 0 11 "" NA06985,NA11931,NA12044,NA12156,NA12878,NA15510,NA18508,NA18517,NA18861,NA19114,NA19240 esv1546026 8 599092 599092 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4123105 S 2 1 0 "" HuRef nsv397108 8 599447 599906 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415686 M 24 "" dgv1156n67 8 601598 692043 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824446,nsv824445,nsv824444 M 31 3 0 ERICH1 AK6,NA18542,NA18949 dgv7584n71 8 609488 691096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889679,nsv889681,nsv889680 M 6533 0 3 ERICH1 IS33455,IS33684,SP55021 esv1056975 8 611371 611371 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228568 S 2 1 0 ERICH1 HuRef esv2484664 8 614825 616847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322399 S 1 0 1 ERICH1 NA18507 esv26461 8 614890 616630 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17151 S 451 1 8 ERICH1 NA07045,NA11993,NA12156,NA12239,NA12878,NA15510,NA18907,NA19147,NA19190 esv1532105 8 615238 615376 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112402 S 2 0 1 ERICH1 HuRef esv1206108 8 615430 615678 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667102 S 2 0 1 ERICH1 HuRef esv1576160 8 615700 616220 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115294 S 2 0 1 ERICH1 HuRef nsv397438 8 615762 615817 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416016 M 24 ERICH1 esv1085855 8 616280 616280 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950437 S 2 1 0 ERICH1 HuRef esv1091730 8 616410 616466 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245094 S 2 0 1 ERICH1 HuRef esv2593775 8 619622 620559 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306345 S 1 1 0 ERICH1 NA18507 nsv6037 8 629524 670925 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8457 S 9 0 1 ERICH1 NA12156 esv23103 8 635049 636989 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13024,esv10596 M 451 0 6 ERICH1 NA11993,NA12287,NA12828,NA18508,NA18907,NA18909 esv2095527 8 635377 635874 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736105 S 1 0 1 ERICH1 NA18507 esv1024510 8 635554 635719 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940646 S 2 0 1 ERICH1 HuRef esv1743407 8 635954 636003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639745 S 2 0 1 ERICH1 HuRef esv1434125 8 636122 636171 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967787 S 2 0 1 ERICH1 HuRef esv1247467 8 636423 636423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4279097 S 2 1 0 ERICH1 HuRef esv275416 8 644796 646447 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585637,essv2586076 M 1250 1 1 ERICH1 esv1096681 8 654483 654612 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811426 S 2 0 1 ERICH1 HuRef nsv889682 8 675705 720627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507717 S 6533 1 0 "" SP54620 esv21799 8 687709 688274 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17133 S 451 1 0 "" NA12156 esv1784433 8 687898 688138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360647 S 2 0 1 "" HuRef esv1046880 8 725615 725615 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767721 S 2 1 0 "" HuRef nsv509240 8 731568 767376 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618070 S 4 1 0 "" CHM nsv6038 8 732400 766133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5043 S 9 1 0 "" NA19129 esv1709166 8 735784 735835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196160 S 2 0 1 "" HuRef esv1402808 8 735841 735926 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4078079 S 2 0 1 "" HuRef esv2531481 8 741707 742654 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172702 S 1 1 0 "" NA18507 esv1211727 8 742004 742004 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4212412 S 2 1 0 "" HuRef esv1249871 8 742220 742220 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004978 S 2 1 0 "" HuRef nsv521496 8 755944 769714 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698110 S 2026 1 0 "" nsv465269 8 755944 783149 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541100 S 1557 0 1 "" 1780854479_A nsv465270 8 778912 839254 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541101 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00759 esv1141220 8 788435 788435 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145387 S 2 1 0 "" HuRef nsv520448 8 812991 813711 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692184,nssv677633,nssv699957,nssv674151,nssv671580 M 2026 1 4 "" dgv7585n71 8 820167 929604 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889684,nsv889683 M 6533 0 3 "" IS39233,IS40396,MS17208 esv1381051 8 822469 822521 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985212 S 2 0 1 "" HuRef nsv509241 8 831671 934730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620898,nssv619515 M 4 2 0 "" NA10860,NA15510 esv2527425 8 834514 835217 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317357 S 1 1 0 "" NA18507 esv1449818 8 834931 834931 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635507 S 2 1 0 "" HuRef nsv889685 8 836154 905488 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549740 S 6533 0 1 "" MS18276 esv24245 8 841323 844194 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21408 S 451 1 0 "" NA18523 nsv889686 8 867433 998887 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538620 S 6533 0 1 "" MS13770 esv2509138 8 873140 874847 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253098 S 1 0 1 "" NA18507 esv1151664 8 873635 874090 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179720 S 2 0 1 "" HuRef esv3980 8 883533 883882 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26421 S 1 0 1 Single Asian sample YH "" YH esv270106 8 903190 903398 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493185,essv2502944,essv2505773,essv2501378,essv2506953,essv2493530,essv2499762 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18507,NA18861,NA19093,NA19102,NA19137,NA19225 nsv6039 8 904892 939093 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10594,nssv5044,nssv3607 M 9 3 0 "" NA12878,NA18956,NA19129 esv28626 8 905044 905889 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20898 S 451 0 2 "" NA18907,NA18909 esv1428972 8 905177 905375 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718106 S 2 0 1 "" HuRef esv993868 8 905292 905491 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570934 S 3 0 1 "" HuRef esv998848 8 916241 918686 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565460 S 3 1 0 "" HuRef nsv820632 8 917660 919133 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420727 S 1 1 0 "" NA10851 esv1187575 8 917721 917721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761525 S 2 1 0 "" HuRef esv23463 8 917788 919133 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10518 S 451 0 15 "" NA07037,NA11931,NA11993,NA12004,NA12006,NA12156,NA12287,NA12489,NA12749,NA12828,NA12878,NA18907,NA18909,NA19099,NA19147 esv2340886 8 918425 918801 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4533271 S 1 0 1 "" NA18507 esv1713981 8 918487 918487 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174242 S 2 1 0 "" HuRef esv1709367 8 918567 918567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209203 S 2 1 0 "" HuRef nsv889687 8 929604 950999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552272 S 6533 0 1 "" MS19304 esv2168830 8 930151 930760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692766 S 1 0 1 "" NA18507 esv22228 8 930181 931097 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16649,esv10326 M 451 0 19 "" NA07045,NA11894,NA12004,NA12006,NA12156,NA12287,NA12776,NA18505,NA18523,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 nsv499403 8 930305 930947 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585628 S 9 1 0 "" esv1693570 8 930353 930407 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3916470 S 2 0 1 "" HuRef esv1008531 8 930397 930997 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586389 S 3 0 1 "" HuRef esv1732087 8 930815 930869 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3688863 S 2 0 1 "" HuRef nsv6040 8 941482 985145 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv707 S 9 0 1 "" NA19240 nsv889688 8 942554 984041 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572892 S 6533 1 0 "" IS33192 nsv889689 8 944295 1021032 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530605 S 6533 0 1 "" MS10311 esv1009117 8 948709 955400 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563510 S 3 0 1 "" HuRef nsv820639 8 950583 955072 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420728 S 1 0 1 "" NA10851 esv2529290 8 950623 955595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206510 S 1 0 1 "" NA18507 nsv435873 8 950840 957296 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466426 S 2 0 1 "" NA15510 nsv499199 8 950994 954927 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586061 S 9 0 1 "" esv29916 8 951052 955072 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20695 S 451 27 3 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19190,NA19225,NA19240,NA19257 esv1001696 8 951086 954942 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580802 S 3 0 1 "" HuRef esv1089194 8 951196 954990 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957525 S 2 0 1 "" HuRef esv2640303 8 951364 951751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307574 S 1 0 1 "" NA18507 nsv889690 8 961014 988653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546661 S 6533 0 1 "" MS17208 esv1790430 8 961880 961880 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906181 S 2 1 0 "" HuRef esv26752 8 970775 973680 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10089 S 451 0 25 "" NA06985,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12878,NA15510,NA18502,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19114,NA19190,NA19225,NA19240 nsv396680 8 971391 971472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415258 M 24 "" nsv512016 8 971397 973644 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624563 S 1 0 1 "" 1 esv1327755 8 971678 973236 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3624522 S 2 0 1 "" HuRef esv1009882 8 976492 978264 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586111 S 3 0 1 "" HuRef nsv396847 8 1011318 1011380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415425 M 24 "" nsv6041 8 1021055 1055449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv708 S 9 1 0 "" NA19240 nsv465271 8 1024671 1070157 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541102 S 1557 0 1 "" 1780862444_A nsv824447 8 1031639 1044360 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426800 S 31 1 0 "" AK6 nsv512017 8 1033627 1035483 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624564 S 1 0 1 "" 1 nsv6042 8 1037503 1073930 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8458 S 9 0 1 "" NA12156 esv21715 8 1038840 1039860 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20788 S 451 1 0 "" NA18916 esv2258686 8 1039017 1039332 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4617533 S 1 0 1 "" NA18507 esv987836 8 1039190 1039275 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569414 S 3 0 1 "" HuRef esv1663912 8 1039223 1039309 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257923 S 2 0 1 "" HuRef esv1415462 8 1040876 1041016 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615449 S 2 0 1 "" HuRef esv992909 8 1040892 1041031 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585287 S 3 0 1 "" HuRef esv1462330 8 1046584 1046584 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327874 S 2 1 0 "" HuRef esv1005224 8 1046858 1047023 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565920 S 3 0 1 "" HuRef esv2109152 8 1058911 1059350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920615 S 1 0 1 "" NA18507 esv996205 8 1059095 1059156 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578866 S 3 0 1 "" HuRef esv1248362 8 1059127 1059189 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4069506 S 2 0 1 "" HuRef esv2196734 8 1067298 1067733 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840972 S 1 0 1 "" NA18507 dgv7586n71 8 1077173 1118309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889691,nsv889693 M 6533 0 2 "" IS33178,IS37646 nsv889692 8 1077173 1165864 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501973 S 6533 1 0 "" SP51108 nsv824448 8 1078691 1079997 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432168 S 31 1 0 "" AK20 esv1005394 8 1082251 1082251 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581506 S 3 1 0 "" HuRef esv1036414 8 1082260 1082260 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995810 S 2 1 0 "" HuRef nsv398246 8 1082354 1082354 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416824 M 24 "" nsv509242 8 1097354 1168282 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623525 S 4 1 0 "" NA18994 nsv818573 8 1098321 1105146 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415903 S 112 0 1 "" NA11994 esv3842 8 1101422 1101674 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26283 S 1 0 1 Single Asian sample YH "" YH esv8282 8 1101656 1101720 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30723 S 1 1 0 "" SJK esv2652751 8 1101660 1101794 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174600 S 1 0 1 "" NA18507 nsv889694 8 1105146 1141283 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546662 S 6533 0 1 "" MS17208 esv4086 8 1118196 1118758 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26527 S 1 0 1 Single Asian sample YH "" YH esv1545519 8 1118398 1118552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752510 S 2 0 1 "" HuRef nsv889695 8 1123178 1179845 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524581 S 6533 1 0 "" SP55108 esv274963 8 1134406 1135002 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586177,essv2585484 M 1250 1 1 "" esv3635 8 1134929 1135394 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26076 S 1 0 1 Single Asian sample YH "" YH nsv396497 8 1134973 1135022 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415075 M 24 "" esv996280 8 1135095 1135144 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568111 S 3 0 1 "" HuRef esv2635979 8 1143439 1143952 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325869 S 1 1 0 "" NA18507 nsv820280 8 1143919 1144077 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418892 S 2 1 0 "" AK1 nsv510123 8 1145916 1151916 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618278 S 4 0 1 "" CHM esv24153 8 1172144 1179942 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12507 S 451 1 10 "" NA06985,NA11894,NA11993,NA12044,NA12156,NA12489,NA12828,NA18909,NA19108,NA19240,NA19257 esv2350978 8 1172314 1172765 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694839 S 1 0 1 "" NA18507 esv992325 8 1172396 1178561 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564830 S 3 0 1 "" HuRef esv1029116 8 1172528 1172582 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802096 S 2 0 1 "" HuRef esv2382609 8 1172764 1173478 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4707402 S 1 0 1 "" NA18507 nsv396168 8 1175057 1175232 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414746 M 24 "" esv988942 8 1177607 1177656 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566796 S 3 0 1 "" HuRef esv2350591 8 1178039 1178712 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519381 S 1 0 1 "" NA18507 esv1008607 8 1178579 1178628 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580377 S 3 0 1 "" HuRef esv23600 8 1184096 1186293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18617 S 451 0 6 "" NA18858,NA18907,NA18909,NA18916,NA19129,NA19147 esv2522854 8 1184435 1187010 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209376 S 1 0 1 "" NA18507 esv3922 8 1184467 1186030 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26363 S 1 0 1 Single Asian sample YH "" YH esv1562065 8 1184761 1184761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156824 S 2 1 0 "" HuRef esv1652930 8 1185017 1185465 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267377 S 2 0 1 "" HuRef esv1630505 8 1185512 1185563 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153936 S 2 0 1 "" HuRef esv1662111 8 1185578 1185675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4327942 S 2 0 1 "" HuRef esv1170704 8 1185761 1185761 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994043 S 2 1 0 "" HuRef esv23368 8 1192082 1193982 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15887 S 451 0 1 "" NA12287 esv275042 8 1202561 1207431 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586155 S 1250 0 1 "" nsv889696 8 1207988 1248521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546663 S 6533 0 1 LOC286083 MS17208 nsv509243 8 1211433 1242747 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619516 S 4 1 0 LOC286083 NA10860 nsv526274 8 1211691 1228053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702551 S 2026 0 1 "" esv1502050 8 1211998 1212078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3748566 S 2 0 1 "" HuRef esv1775533 8 1213275 1213275 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934455 S 2 1 0 "" HuRef nsv398113 8 1213416 1213416 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416691 M 24 "" nsv465273 8 1216556 1307131 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541104 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC286083 HGDP00600 nsv470165 8 1216556 1307131 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546605 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC286083 HGDP00600 esv1616893 8 1219679 1219679 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067407 S 2 1 0 "" HuRef esv1382532 8 1219684 1219684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3885849 S 2 1 0 "" HuRef esv2492319 8 1219748 1220375 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318380 S 1 1 0 "" NA18507 esv3103 8 1224235 1224531 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25544 S 1 0 1 Single Asian sample YH "" YH esv2529150 8 1224403 1224839 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248021 S 1 1 0 "" NA18507 nsv398404 8 1224442 1224442 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416982 M 24 "" esv1756088 8 1224446 1224446 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719333 S 2 1 0 "" HuRef esv1569451 8 1224467 1224467 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291981 S 2 1 0 "" HuRef nsv889697 8 1225971 1849378 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518929 S 6533 1 0 ARHGEF10,CLN8,DLGAP2,LOC286083,MIR596 SP58561 nsv824449 8 1229327 1229810 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441172 S 31 1 0 "" NA18969 esv1010601 8 1233406 1233533 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580364 S 3 0 1 LOC286083 HuRef esv1702189 8 1233621 1233710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347141 S 2 0 1 LOC286083 HuRef esv1042242 8 1237997 1237997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750877 S 2 1 0 LOC286083 HuRef esv22817 8 1250804 1254324 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17902 S 451 1 3 "" NA18523,NA18907,NA18916,NA19240 nsv821172 8 1250804 1254324 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420729 S 1 0 1 "" NA10851 esv2533138 8 1250847 1253888 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311121 S 1 0 1 "" NA18507 esv995323 8 1250849 1253719 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586642 S 3 0 1 "" HuRef esv1080187 8 1251406 1251406 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909247 S 2 1 0 "" HuRef esv2248615 8 1253372 1253851 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4605051 S 1 0 1 "" NA18507 dgv7587n71 8 1270615 1385687 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889699,nsv889698 M 6533 0 2 "" IS39042,MS10311 nsv512935 8 1272787 1272890 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625584 S 1 1 0 "" 1 esv2606834 8 1272800 1273258 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314905 S 1 1 0 "" NA18507 nsv819105 8 1273119 1273222 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418894 S 2 1 0 "" AK1 esv1943826 8 1274179 1274611 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862081 S 1 0 1 "" NA18507 esv1602511 8 1274395 1274395 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886915 S 2 1 0 "" HuRef nsv526013 8 1277082 1277468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702241 S 2026 0 1 "" esv991346 8 1279700 1279700 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575335 S 3 1 0 "" HuRef esv1535708 8 1279729 1279729 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169354 S 2 1 0 "" HuRef nsv519142 8 1279895 1307131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696620 S 2026 0 1 "" nsv398100 8 1280787 1280787 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416678 M 24 "" esv1296631 8 1280801 1280801 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015750 S 2 1 0 "" HuRef esv25637 8 1281837 1284177 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11407 S 451 0 1 "" NA18508 esv6607 8 1283908 1284114 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29048 S 1 0 1 "" SJK esv1323920 8 1284084 1284084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945280 S 2 1 0 "" HuRef esv24507 8 1284662 1287912 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12104,esv16025 M 451 15 2 "" NA07045,NA11894,NA11931,NA11995,NA12004,NA12156,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18517,NA18523,NA18907,NA19099,NA19225 nsv889700 8 1284740 1323985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549741 S 6533 0 1 "" MS18276 esv1598438 8 1285233 1285233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002772 S 2 1 0 "" HuRef esv1189586 8 1285261 1285261 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938271 S 2 1 0 "" HuRef esv1008900 8 1285772 1287912 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586707 S 3 0 1 "" HuRef esv1732816 8 1285890 1285890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045832 S 2 1 0 "" HuRef esv1115677 8 1285970 1286030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070637 S 2 0 1 "" HuRef esv272988 8 1297900 1298205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579051 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268139 8 1297914 1298211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525265,essv2540022,essv2521014,essv2557179,essv2532453,essv2562588,essv2527249,essv2543612,essv2562272,essv2538608,essv2526510,essv2560855,essv2574886,essv2530406,essv2546030 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA12156,NA18489,NA18498,NA18501,NA18505,NA18507,NA18522,NA18870,NA18909,NA19108,NA19114,NA19137,NA19138,NA19141,NA19239 nsv6044 8 1309860 1360582 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5046,nssv9739,nssv11174,nssv10595,nssv9453,nssv6192,nssv1707,nssv709,nssv3608 M 9 0 9 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv2558349 8 1310173 1312061 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5185116 S 1 0 1 "" NA18507 esv29052 8 1310463 1311903 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21053 S 451 5 2 "" NA06985,NA11894,NA12156,NA12776,NA15510,NA18517,NA18916 nsv821326 8 1310463 1311903 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420730 S 1 0 1 "" NA10851 esv2027467 8 1310490 1311221 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647679 S 1 0 1 "" NA18507 esv994356 8 1312227 1312290 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567632 S 3 0 1 "" HuRef esv1007914 8 1312291 1312354 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585673 S 3 0 1 "" HuRef esv1505215 8 1312315 1312379 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603101 S 2 0 1 "" HuRef nsv397715 8 1312316 1312379 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416293 M 24 "" esv21671 8 1319764 1321490 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13733 S 451 1 0 "" NA19108 esv1288020 8 1320525 1320525 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3652063 S 2 1 0 "" HuRef esv1369660 8 1320890 1320890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950550 S 2 1 0 "" HuRef esv1716609 8 1320966 1321255 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337252 S 2 0 1 "" HuRef esv995632 8 1321047 1321253 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584960 S 3 0 1 "" HuRef esv2463354 8 1323336 1325090 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269966 S 1 0 1 "" NA18507 esv23248 8 1323600 1328300 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20177,esv12158 M 451 22 0 "" NA06985,NA07037,NA11993,NA11995,NA12004,NA12044,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19114,NA19147,NA19225 esv1005757 8 1323682 1324240 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576945 S 3 0 1 "" HuRef esv1009551 8 1323760 1324670 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586070 S 3 0 1 "" HuRef esv1006506 8 1323912 1324754 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565587 S 3 0 1 "" HuRef esv2247712 8 1324650 1325078 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497872 S 1 0 1 "" NA18507 esv1007719 8 1324750 1328220 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586337 S 3 1 0 "" HuRef nsv8260 8 1325775 1344224 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15071,nssv15409,nssv18522,nssv16324,nssv16893,nssv17439,nssv17641,nssv16310,nssv15954,nssv16998,nssv15832,nssv19604,nssv16725,nssv16405,nssv16196,nssv16636,nssv17309,nssv17528,nssv17068,nssv16247,nssv19133,nssv16322,nssv15695,nssv18793 M 31 0 24 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA12155,NA12740,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173,NA19240 nsv19 8 1327422 1358228 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv19 S 1 0 1 "" NA15510 esv2590629 8 1327894 1344179 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163259 S 1 0 1 "" NA18507 nsv819913 8 1328110 1343852 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418656 S 2 0 1 "" AK1 dgv1157n67 8 1328210 1343670 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824451,nsv824450 M 31 0 17 "" AK10,AK12,AK14,AK16,AK2,AK20,AK4,NA18566,NA18570,NA18582,NA18592,NA18942,NA18949,NA18951,NA18969,NA18972,NA18973 nsv820853 8 1328210 1343670 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420731 S 1 0 1 "" NA10851 esv990106 8 1328300 1343450 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586484 S 3 0 1 "" HuRef esv25668 8 1328300 1343560 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14583 S 451 0 30 "" NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18916,NA19099,NA19129,NA19147,NA19240,NA19257 esv1002489 8 1328418 1343859 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564359 S 3 0 1 "" HuRef nsv824452 8 1331393 1342078 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427768,nssv1422705,nssv1423524,nssv1440951,nssv1440455,nssv1421825,nssv1427363,nssv1426801,nssv1431429,nssv1427589,nssv1439777,nssv1436764,nssv1433758 M 31 0 13 "" AK18,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18947,NA18968,NA18997,NA18999 nsv499087 8 1333577 1341112 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585638 S 9 0 1 "" nsv442305 8 1346118 1348109 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv819789 8 1351626 1358119 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419775 S 2 1 0 "" AK1 esv2466390 8 1352344 1352985 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233250 S 1 1 0 "" NA18507 nsv512936 8 1352562 1352678 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625585 S 1 1 0 "" 1 esv2425349 8 1354094 1355499 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229569 S 1 0 1 "" NA18507 nsv396792 8 1354711 1354831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415370 M 24 "" nsv469881 8 1362044 1549356 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649902 M 265 0 20 Samples from several populations that are part of the HapMap project. DLGAP2 nsv8261 8 1370378 1374443 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17339 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 esv2064611 8 1377574 1378052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4864974 S 1 0 1 "" NA18507 nsv396133 8 1385376 1385857 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414711 M 24 "" nsv396430 8 1385563 1385661 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415008 M 24 "" esv1452017 8 1385736 1385736 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757628 S 2 1 0 "" HuRef esv7851 8 1392283 1392371 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30292 S 1 1 0 "" SJK esv1007814 8 1392303 1392303 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577366 S 3 1 0 "" HuRef nsv396594 8 1392305 1392305 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415172 M 24 "" esv1508548 8 1392428 1392428 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362896 S 2 1 0 "" HuRef nsv8262 8 1393955 1413592 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18823,nssv19634,nssv19163,nssv16277,nssv16666,nssv15862,nssv15984,nssv15725 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA10847,NA18504,NA18517,NA18552,NA18563,NA18942,NA18972,NA18975 esv2464925 8 1396232 1398812 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383998 S 1 0 1 "" NA18507 esv29189 8 1396530 1398235 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13658 S 451 0 26 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18916,NA19099,NA19129,NA19147,NA19190,NA19240,NA19257 esv4664 8 1396701 1398218 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27105 S 1 0 1 Single Asian sample YH "" YH nsv397478 8 1396841 1397170 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416056 M 24 "" esv991461 8 1396855 1398115 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586536 S 3 0 1 "" HuRef esv2456957 8 1399634 1400416 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302711 S 1 1 0 "" NA18507 esv2754 8 1399867 1400114 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25195 S 1 0 1 Single Asian sample YH "" YH esv24123 8 1406206 1407068 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16591 S 451 0 3 "" NA11894,NA12287,NA12828 esv1564080 8 1406349 1406406 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332609 S 2 0 1 "" HuRef esv1726911 8 1406451 1406622 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206719 S 2 0 1 "" HuRef esv2298226 8 1418826 1419339 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782066 S 1 0 1 "" NA18507 nsv396086 8 1426905 1426905 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414664 M 24 "" nsv889701 8 1428246 1463230 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530607 S 6533 0 1 DLGAP2 MS10311 esv1002276 8 1435992 1435992 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584798 S 3 1 0 "" HuRef nsv889702 8 1445291 1494928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536470 S 6533 0 1 DLGAP2 MS12812 nsv889703 8 1451157 1478011 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597775 S 6533 0 1 DLGAP2 IS40925 nsv396012 8 1456646 1457106 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414590 M 24 DLGAP2 esv1240582 8 1456783 1457014 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3915836 S 2 0 1 DLGAP2 HuRef nsv397705 8 1457541 1457598 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416283 M 24 DLGAP2 esv1009105 8 1457592 1457649 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569072 S 3 0 1 DLGAP2 HuRef nsv6045 8 1478256 1512828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2778 S 9 1 0 DLGAP2 NA18555 esv21755 8 1496892 1499342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16328 S 451 0 24 DLGAP2 NA06985,NA07037,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18523,NA18858,NA18861,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 nsv821588 8 1496892 1499422 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420732 S 1 0 1 DLGAP2 NA10851 esv2548579 8 1497028 1499341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378042 S 1 0 1 DLGAP2 NA18507 nsv512018 8 1497097 1499132 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624565 S 1 0 1 DLGAP2 1 esv988773 8 1503823 1503921 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582071 S 3 0 1 DLGAP2 HuRef esv1567761 8 1503860 1504008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640401 S 2 0 1 DLGAP2 HuRef esv2447133 8 1505891 1507914 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233658 S 1 0 1 DLGAP2 NA18507 esv26265 8 1505920 1508970 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10539 S 451 2 0 DLGAP2 NA06985,NA12044 esv2410209 8 1507144 1507711 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684271 S 1 0 1 DLGAP2 NA18507 esv21666 8 1525314 1527279 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13482 S 451 0 2 DLGAP2 NA18517,NA19190 dgv7588n71 8 1551311 2211703 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889719,nsv889704,nsv889708,nsv889709,nsv889714 M 6533 5 0 ARHGEF10,CLN8,DLGAP2,KBTBD11,MIR596,MYOM2 MS11765,MS15218,MS15479,MS18436,SP56094 esv27484 8 1561212 1579737 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20977,esv15681,esv9828,esv9799 M 451 10 28 DLGAP2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18523,NA18861,NA18916,NA19099,NA19108,NA19129,NA19190,NA19257 dgv7589n71 8 1569246 1668578 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889705,nsv889706,nsv889710 M 6533 3 0 DLGAP2 MS18436,MS23008,MS24077 dgv7590n71 8 1569246 1907868 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889711,nsv889707 M 6533 2 0 ARHGEF10,CLN8,DLGAP2,MIR596 MS18153,MS18503 esv2238262 8 1575700 1576131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796476 S 1 0 1 DLGAP2 NA18507 esv2549276 8 1577074 1580341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250656 S 1 0 1 DLGAP2 NA18507 nsv512019 8 1577565 1579927 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624567 S 1 0 1 DLGAP2 1 esv1406551 8 1577601 1578687 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737833 S 2 0 1 DLGAP2 HuRef nsv889712 8 1578819 2334306 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547812 S 6533 1 0 ARHGEF10,CLN8,DLGAP2,KBTBD11,MIR596,MYOM2 MS17563 esv1198504 8 1579369 1579369 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347886 S 2 1 0 DLGAP2 HuRef nsv517779 8 1581714 1582857 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675685,nssv659677,nssv653225,nssv667370,nssv684141,nssv689847 M 2026 0 6 DLGAP2 nsv889713 8 1581714 1646447 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559745 S 6533 1 0 DLGAP2 MS24108 esv1148786 8 1584842 1584893 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641564 S 2 0 1 DLGAP2 HuRef esv987969 8 1584870 1584916 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576510 S 3 0 1 DLGAP2 HuRef esv2487014 8 1585771 1587282 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250494 S 1 0 1 DLGAP2 NA18507 esv2174611 8 1586148 1586550 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506948 S 1 0 1 DLGAP2 NA18507 esv2011197 8 1598252 1598754 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590845 S 1 0 1 DLGAP2 NA18507 dgv7591n71 8 1617876 1672471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889716,nsv889715 M 6533 0 2 DLGAP2 IS32322,MS10311 esv2253546 8 1646115 1646612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765290 S 1 0 1 "" NA18507 esv21453 8 1646211 1647157 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13541 S 451 0 1 "" NA15510 nsv396525 8 1646285 1646531 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415103 M 24 "" nsv397250 8 1646285 1646901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415828 M 24 "" esv6457 8 1646316 1647122 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28898 S 1 0 1 "" SJK nsv465274 8 1672471 1715699 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541105 S 1557 0 1 CLN8 1780862345_A dgv850n27 8 1684493 1764978 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465276,nsv465275 M 1557 0 2 ARHGEF10,CLN8,MIR596 1780862414_A,1782681313_A nsv509244 8 1692086 1786277 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620899 S 4 1 0 ARHGEF10,CLN8,MIR596 NA15510 nsv824454 8 1727776 1790280 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426802 S 31 1 0 ARHGEF10,MIR596 AK6 nsv512020 8 1733037 1735145 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624568 S 1 0 1 "" 1 esv2637825 8 1733078 1734779 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260990 S 1 0 1 "" NA18507 esv2183277 8 1733685 1734444 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4612782 S 1 0 1 "" NA18507 esv4580 8 1733721 1734521 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27021 S 1 0 1 Single Asian sample YH "" YH nsv820491 8 1733823 1734458 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420733 S 1 0 1 "" NA10851 esv29803 8 1733823 1735661 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18740,esv17635 M 451 11 0 "" NA06985,NA07037,NA11931,NA12287,NA12489,NA12776,NA15510,NA18505,NA19129,NA19147,NA19225 esv1171655 8 1733901 1734345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4100759 S 2 0 1 "" HuRef nsv470167 8 1734356 1874047 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546606 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10,MIR596 HGDP01222 nsv465277 8 1734357 1875854 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541108 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARHGEF10,MIR596 HGDP01222 dgv7592n71 8 1734357 1911644 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889717,nsv889723 M 6533 2 0 ARHGEF10,KBTBD11,MIR596 MS23008,MS24108 dgv7593n71 8 1735573 1803046 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889718,nsv889721,nsv889720 M 6533 0 3 ARHGEF10,MIR596 IS37646,MS16153,MS18276 nsv519049 8 1743992 1744207 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696520 S 2026 0 1 "" dgv7594n71 8 1744207 1844700 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889722,nsv889728 M 6533 0 2 ARHGEF10,MIR596 MS10311,MS10769 nsv889724 8 1744207 2090786 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559660 S 6533 1 0 ARHGEF10,KBTBD11,MIR596,MYOM2 MS24077 dgv7595n71 8 1752778 1803934 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889727,nsv889725 M 6533 0 2 ARHGEF10,MIR596 IS33504,MS17208 nsv824455 8 1754741 1760044 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437545 S 31 1 0 ARHGEF10 NA18949 nsv889726 8 1755411 1785535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598058,nssv1593386 M 6533 0 2 ARHGEF10 IS39417,IS40828 esv4225 8 1763886 1764477 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26666 S 1 0 1 Single Asian sample YH ARHGEF10 YH nsv395839 8 1763935 1764164 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414417 M 24 ARHGEF10 esv1733120 8 1768513 1768617 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603518 S 2 0 1 ARHGEF10 HuRef esv23451 8 1774603 1777934 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16709 S 451 2 0 ARHGEF10 NA12044,NA19108 esv1208772 8 1780007 1780007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013813 S 2 1 0 ARHGEF10 HuRef esv1510196 8 1780033 1780033 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888329 S 2 1 0 ARHGEF10 HuRef esv27054 8 1784975 1786150 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11254 S 451 1 0 ARHGEF10 NA15510 esv1076332 8 1785716 1785716 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4319554 S 2 1 0 ARHGEF10 HuRef esv1171195 8 1786895 1786895 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3925698 S 2 1 0 ARHGEF10 HuRef nsv889729 8 1787967 1934824 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516634 S 6533 1 0 ARHGEF10,KBTBD11 SP56880 nsv831207 8 1790762 1875731 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446825 S 95 0 1 ARHGEF10 nsv396415 8 1793831 1793831 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414993 M 24 ARHGEF10 nsv397138 8 1794855 1794937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415716 M 24 ARHGEF10 nsv6046 8 1803976 1848711 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8459 S 9 0 1 ARHGEF10 NA12156 nsv889730 8 1808923 1870759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549743 S 6533 0 1 ARHGEF10 MS18276 esv8802 8 1809310 1809377 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31243 S 1 1 0 ARHGEF10 SJK nsv398112 8 1810398 1810574 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416690 M 24 ARHGEF10 esv1107716 8 1810601 1810837 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3737696 S 2 0 1 ARHGEF10 HuRef nsv511395 8 1821208 1825445 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626002 S 1 0 1 ARHGEF10 1 dgv1158n67 8 1822826 1826232 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824456,nsv824457,nsv824467,nsv824460,nsv824468,nsv824459,nsv824462,nsv824458 M 31 0 10 ARHGEF10 AK4,AK8,NA18552,NA18566,NA18582,NA18949,NA18951,NA18969,NA18973,NA18999 esv28396 8 1822836 1828340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21067,esv15592,esv15993 M 451 0 19 ARHGEF10 NA07037,NA11993,NA11995,NA12006,NA12287,NA12414,NA12828,NA18502,NA18505,NA18508,NA18517,NA18861,NA18907,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240 dgv1159n67 8 1823382 1826027 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824466,nsv824461,nsv824465,nsv824469 M 31 0 4 ARHGEF10 AK18,AK2,NA18547,NA18947 esv2084774 8 1823500 1823970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854845 S 1 0 1 ARHGEF10 NA18507 nsv824463 8 1823539 1824657 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432976 S 31 0 1 ARHGEF10 NA18972 nsv397324 8 1823631 1823689 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415902 M 24 ARHGEF10 esv991834 8 1823695 1823753 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573859 S 3 0 1 ARHGEF10 HuRef esv993105 8 1823756 1825561 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586301 S 3 0 1 ARHGEF10 HuRef esv1138141 8 1823804 1823917 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4230744 S 2 0 1 ARHGEF10 HuRef esv3185 8 1824042 1825719 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25626 S 1 0 1 Single Asian sample YH ARHGEF10 YH esv1620401 8 1824265 1824352 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223461 S 2 0 1 ARHGEF10 HuRef dgv1160n67 8 1824372 1825313 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824471,nsv824470 M 31 0 3 ARHGEF10 NA18537,NA18542,NA18949 esv1141021 8 1824404 1824404 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747375 S 2 1 0 ARHGEF10 HuRef esv1322301 8 1824410 1824410 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4115458 S 2 1 0 ARHGEF10 HuRef esv1682354 8 1824449 1824449 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882028 S 2 1 0 ARHGEF10 HuRef esv2252959 8 1824809 1825252 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801171 S 1 0 1 ARHGEF10 NA18507 esv2516234 8 1824872 1826663 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302364 S 1 0 1 ARHGEF10 NA18507 nsv824472 8 1825207 1826232 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439779 S 31 0 1 ARHGEF10 NA18537 esv2415204 8 1825351 1826362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568059 S 1 0 1 ARHGEF10 NA18507 nsv397172 8 1827902 1828201 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415750 M 24 ARHGEF10 esv1007633 8 1829331 1831172 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564969 S 3 0 1 ARHGEF10 HuRef esv26851 8 1854528 1855718 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10006 S 451 0 1 ARHGEF10 NA19147 dgv7596n71 8 1856249 1956544 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889731,nsv889738 M 6533 0 2 ARHGEF10,KBTBD11 IS37646,MS10311 dgv7597n71 8 1858363 1894037 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889733,nsv889732,nsv889734 M 6533 0 3 ARHGEF10 IS32322,IS32888,MS10769 nsv889735 8 1879476 1895262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549744 S 6533 0 1 ARHGEF10 MS18276 dgv7598n71 8 1879476 2027002 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889736,nsv889737 M 6533 0 2 ARHGEF10,KBTBD11,MYOM2 MS16153,MS17208 nsv889739 8 1885954 1905759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538621 S 6533 0 1 ARHGEF10 MS13770 esv3957 8 1888630 1889070 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26398 S 1 0 1 Single Asian sample YH ARHGEF10 YH esv2052269 8 1888633 1889089 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503543 S 1 0 1 ARHGEF10 NA18507 esv1011319 8 1888758 1888904 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579473 S 3 0 1 ARHGEF10 HuRef esv1651457 8 1888803 1888950 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3764268 S 2 0 1 ARHGEF10 HuRef esv1484821 8 1890560 1890560 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638861 S 2 1 0 ARHGEF10 HuRef esv1449111 8 1890714 1890765 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738710 S 2 0 1 ARHGEF10 HuRef nsv398111 8 1891093 1891093 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416689 M 24 ARHGEF10 nsv517213 8 1894037 1900541 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656851,nssv667953,nssv678311,nssv691343,nssv693450,nssv675712,nssv681728,nssv671070,nssv683296,nssv662570,nssv692271,nssv683095,nssv682717,nssv678610,nssv654025,nssv651897,nssv656904,nssv690296,nssv692018,nssv667302 M 2026 0 20 ARHGEF10 nsv524631 8 1895262 1903551 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700594 S 2026 0 1 "" nsv525036 8 1898065 1905759 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701080 S 2026 0 1 "" dgv1161n67 8 1901712 1956320 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824474,nsv824473,nsv824477 M 31 3 0 KBTBD11 AK12,AK6,NA18542 dgv7599n71 8 1903754 1942690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889741,nsv889742,nsv889740 M 6533 0 4 KBTBD11 IS40297,SP54725,SP54988,SP55021 esv1109617 8 1905258 1905258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733003 S 2 1 0 "" HuRef esv6680 8 1910349 1910462 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29121 S 1 1 0 KBTBD11 SJK dgv7600n71 8 1924693 2203071 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889744,nsv889746,nsv889743 M 6533 4 0 KBTBD11,MYOM2 MS12785,MS23720,MS24108,MS25382 esv28022 8 1925966 1926831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17001 S 451 0 2 KBTBD11 NA18909,NA19147 esv1613551 8 1926405 1926504 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911390 S 2 0 1 KBTBD11 HuRef esv1657589 8 1926532 1926631 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621046 S 2 0 1 KBTBD11 HuRef esv22610 8 1927101 1929856 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14283 S 451 0 2 KBTBD11 NA19108,NA19129 esv26547 8 1936757 1938804 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14351 S 451 0 1 KBTBD11 NA07045 nsv528662 8 1942219 2003460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705298 S 2026 0 1 KBTBD11,MYOM2 dgv439n21 8 1942690 1946743 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520178,nsv518960 M 2026 0 2 "" nsv465278 8 1942690 1984944 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541109 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MYOM2 HGDP00971 dgv7601n71 8 1942690 2130825 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889745,nsv889747 M 6533 2 0 MYOM2 MS18153,MS18503 nsv889748 8 1957133 2128549 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525532,nssv1502489 M 6533 1 1 MYOM2 SP51216,SP56663 nsv889749 8 1965522 2329741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557974 S 6533 1 0 MYOM2 MS23008 esv2422414 8 1972946 2450699 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161508 S 181 1 0 MYOM2 ND02645 esv2422491 8 1982590 2020207 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161309 S 181 1 0 MYOM2 ND00709 nsv465279 8 1987994 2003460 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541110 S 1557 0 1 MYOM2 NINDS_159 esv2049945 8 1990334 1990788 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812792 S 1 0 1 MYOM2 NA18507 nsv398389 8 1990512 1990701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416967 M 24 MYOM2 dgv7602n71 8 2003460 2149713 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889750,nsv889751 M 6533 2 0 MYOM2 IS35973,IS40307 nsv522301 8 2014561 2111558 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695082 S 2026 1 0 MYOM2 esv2433339 8 2016058 2017420 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203719 S 1 0 1 MYOM2 NA18507 esv1490447 8 2016496 2016548 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4303657 S 2 0 1 MYOM2 HuRef esv1007198 8 2016497 2016548 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581073 S 3 0 1 MYOM2 HuRef nsv889752 8 2018175 2052499 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516635 S 6533 1 0 MYOM2 SP56880 esv24980 8 2021003 2021753 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12688 S 451 0 7 MYOM2 NA11931,NA11993,NA12044,NA15510,NA19099,NA19190,NA19257 nsv820985 8 2021003 2021753 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420734 S 1 0 1 MYOM2 NA10851 esv3586 8 2021032 2021779 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26027 S 1 0 1 Single Asian sample YH MYOM2 YH esv1010014 8 2021071 2021457 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577249 S 3 0 1 MYOM2 HuRef esv1567125 8 2021085 2021393 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906402 S 2 0 1 MYOM2 HuRef esv1967473 8 2021222 2021764 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917005 S 1 0 1 MYOM2 NA18507 nsv397833 8 2021401 2021506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416411 M 24 MYOM2 esv1094537 8 2021460 2021512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826845 S 2 0 1 MYOM2 HuRef esv2108954 8 2024241 2024636 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822498 S 1 0 1 MYOM2 NA18507 nsv516842 8 2024688 2036057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681810,nssv654384,nssv690730,nssv692197 M 2026 0 4 MYOM2 dgv851n27 8 2024688 2036238 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465280,nsv465281 M 1557 0 2 MYOM2 1782681110_A,NINDS_247 nsv889753 8 2027002 2033983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509216 S 6533 1 0 MYOM2 SP54766 nsv821654 8 2027315 2208228 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421200 S 31 1 0 MYOM2 esv29041 8 2031767 2032297 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12746 S 451 1 0 MYOM2 NA18907 nsv516559 8 2042221 2044271 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669166,nssv660145 M 2026 2 0 MYOM2 nsv889754 8 2048413 2168947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546666 S 6533 0 1 MYOM2 MS17208 nsv526104 8 2052499 2084414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702352 S 2026 0 1 MYOM2 nsv397359 8 2055855 2055935 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415937 M 24 MYOM2 esv1769844 8 2055857 2055857 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025605 S 2 1 0 MYOM2 HuRef esv5208 8 2062835 2063209 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27649 S 1 0 1 Single Asian sample YH MYOM2 YH esv996375 8 2063017 2063132 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568044 S 3 0 1 MYOM2 HuRef esv27413 8 2065379 2072893 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19257 S 451 0 1 MYOM2 NA18907 nsv397311 8 2065452 2065601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415889 M 24 MYOM2 nsv824478 8 2066162 2073828 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433875 S 31 0 1 MYOM2 NA18592 nsv438016 8 2066222 2075642 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469614,nssv469615,nssv469613 M 269 0 2 Samples from several populations that are part of the HapMap project. MYOM2 NA12864,NA12872 nsv514463 8 2067689 2069245 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627922 S 1414 1 0 MYOM2 nsv442317 8 2067801 2069206 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MYOM2 esv22787 8 2072893 2074333 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15772,esv18652 M 451 0 2 MYOM2 NA18502,NA18909 nsv465282 8 2082848 2092133 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541113 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01086 nsv470168 8 2082848 2092133 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546607 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01086 esv34364 8 2082848 2375383 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986559,essv6990208,essv6986558,essv6978204,essv6978203 M 771 1 0 "" NA18976 nsv889755 8 2085234 2094644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561315,nssv1535024 M 6533 0 2 "" MS11971,MS24932 nsv528434 8 2088481 2099921 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705027 S 2026 0 1 "" dgv7603n71 8 2090786 2118532 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889756,nsv889757 M 6533 0 2 "" MS12331,MS13527 dgv7604n71 8 2090786 2128549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889758,nsv889759 M 6533 0 2 "" MS10638,MS21290 esv271781 8 2099600 2099763 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509653,essv2495641,essv2498676,essv2497665,essv2512067,essv2498003 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18916,NA19138,NA19147,NA19238,NA19240 esv272266 8 2099616 2099757 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581730,essv2583050 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv889760 8 2104645 2116686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598841,nssv1600804 M 6533 0 2 "" IS40801,IS41926 nsv6047 8 2104655 2154129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2779,nssv6193,nssv10596,nssv5047 M 9 4 0 "" NA12156,NA18555,NA18956,NA19129 nsv469836 8 2105019 2279635 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649857 M 265 1 2 Samples from several populations that are part of the HapMap project. "" nsv831208 8 2105020 2279635 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446826,nssv1446827,nssv1446829 M 95 0 3 "" dgv2171e1 8 2105020 2312389 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12259,essv16064,essv9005,essv15543 M 271 0 0 "" NA18501,NA19101,NA19132,NA19137 dgv2172e1 8 2105020 2411266 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2389,esv694,esv601,essv1862 M 271 0 0 "" NA18976 nsv471649 8 2105020 2435332 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549917,nssv549919,nssv549916,nssv549925,nssv549924,nssv549920,nssv549923,nssv549921,nssv549926,nssv549927,nssv549928,nssv549918,nssv550823,nssv549922 M 48 11 2 "" NA10493,NA10967,NA10970,NA10971,NA11323,NA15724,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17058 nsv889761 8 2106654 2128549 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559661 S 6533 1 0 "" MS24077 dgv7605n71 8 2106654 2133500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889766,nsv889763,nsv889764,nsv889765,nsv889762 M 6533 0 57 "" IS40944,MS10430,MS10445,MS10872,MS11389,MS11505,MS11755,MS11821,MS11919,MS12217,MS13517,MS13735,MS13770,MS14093,MS14111,MS14222,MS14287,MS14361,MS14500,MS14522,MS14544,MS15216,MS15242,MS15397,MS15714,MS15748,MS15838,MS15942,MS16228,MS16349,MS16559,MS16611,MS17492,MS18190,MS18853,MS19345,MS20196,MS20254,MS20583,MS20828,MS21182,MS21776,MS22524,MS23079,MS23412,MS23583,MS23626,MS23714,MS23798,MS23875,MS23889,MS24266,MS24762,MS24854,MS25193,MS25369,MS25755 esv22229 8 2107083 2110198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20810,esv11804 M 451 3 0 "" NA11894,NA19190,NA19225 nsv8263 8 2108407 2123306 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16340,nssv18552 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18502,NA18853 esv1951186 8 2109316 2109919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696035 S 1 0 1 "" NA18507 esv3352 8 2109449 2109891 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25793 S 1 0 1 Single Asian sample YH "" YH esv7830 8 2109479 2109752 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30271 S 1 0 1 "" SJK esv2486934 8 2109490 2109753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365957 S 1 0 1 "" NA18507 dgv239n6 8 2109490 2109755 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv398484,nsv397182 M 24 "" nsv528801 8 2111101 2111558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705475 S 2026 0 1 "" dgv7606n71 8 2111745 2383995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889793,nsv889794,nsv889767,nsv889782,nsv889777,nsv889776,nsv889792,nsv889791,nsv889796,nsv889797,nsv889795,nsv889778,nsv889775 M 6533 16 0 "" IS38322,IS38490,MS24077,SP50103,SP52124,SP52427,SP54604,SP54650,SP54693,SP55122,SP55539,SP55542,SP56120,SP56880,SP81188,SP81560 nsv436580 8 2116503 2122849 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466427 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv524216 8 2116686 2123169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700103 S 2026 0 1 "" nsv514464 8 2116937 2120705 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627923 S 1414 0 1 "" esv29220 8 2116944 2122322 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19956 S 451 0 4 "" NA18502,NA18505,NA18523,NA18861 nsv442083 8 2116952 2120782 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv7607n71 8 2117291 2183984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889768,nsv889787 M 6533 0 6 "" IS33590,SP50685,SP56949,SP80919,SP81080,SP81536 dgv852n27 8 2118532 2158362 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465293,nsv465291,nsv465289,nsv465292,nsv465290 M 1557 0 5 "" 1780854206_A,1780854334_A,1780862109_A,1780862520_A,NINDS_89 nsv515930 8 2118532 2584738 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705092,nssv661002,nssv705280,nssv690141,nssv677415,nssv652308,nssv674185,nssv671953,nssv683011,nssv678856,nssv684584,nssv661394,nssv668797,nssv691928,nssv654512,nssv680254,nssv694848,nssv658648,nssv668767,nssv692502,nssv673522,nssv666171,nssv657224,nssv688587,nssv675066,nssv670976,nssv674992,nssv674599,nssv656503,nssv675383,nssv675123,nssv692826,nssv685897,nssv690142,nssv664269,nssv682915,nssv686375,nssv692882,nssv657122,nssv692391,nssv661259,nssv669895,nssv693508,nssv681452,nssv657374,nssv666912,nssv686244,nssv683012,nssv666037,nssv660297,nssv661393,nssv684309,nssv689253,nssv690228,nssv659363,nssv684585,nssv705757,nssv667436,nssv692230,nssv661260,nssv670898,nssv678113,nssv677416,nssv660296,nssv692231,nssv675324,nssv659583,nssv680219,nssv671579,nssv670975,nssv654511,nssv673523,nssv693948,nssv683968,nssv675516,nssv668766,nssv680218,nssv683442,nssv688316,nssv684235,nssv680330,nssv664296,nssv672275,nssv675325,nssv656504,nssv685896,nssv691213,nssv691212,nssv688586,nssv681067,nssv678112,nssv666807,nssv683441,nssv670443,nssv657124,nssv684554 M 2026 43 53 "" nsv889769 8 2118593 2136855 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506322 S 6533 1 0 "" SP54196 dgv7608n71 8 2118593 2168947 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889770,nsv889772,nsv889780 M 6533 4 0 "" SP54058,SP54621,SP55926,SP56248 dgv7609n71 8 2118593 2168947 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv889785,nsv889771,nsv889779,nsv889786 M 6533 12 14 "" IS30553,IS35624,IS37064,IS39391,MS15188,MS19304,SP50761,SP50925,SP50996,SP51379,SP52224,SP52685,SP52886,SP54090,SP54171,SP54892,SP55084,SP55223,SP56906,SP57197,SP57642,SP57728,SP58328,SP81119,SP81145,SP81501 dgv7610n71 8 2118593 2203071 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889789,nsv889774,nsv889773,nsv889781,nsv889788 M 6533 10 0 "" SP50904,SP52680,SP54197,SP55426,SP56726,SP57137,SP58480,SP81276,SP81354,SP81422 dgv853n27 8 2118593 2383995 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465302,nsv465305,nsv465303 M 1557 3 0 "" HGDP00782,HGDP00811,HGDP01334 dgv1162n67 8 2120116 2454256 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824479,nsv824482 M 31 2 0 "" AK10,AK8 nsv509245 8 2121576 2130069 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620900,nssv623526,nssv619517 M 4 3 0 "" NA10860,NA15510,NA18994 nsv465304 8 2123169 2149713 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541124 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01384 nsv889783 8 2123169 2149713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516033 S 6533 0 1 "" SP56380 nsv889784 8 2123169 2158362 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516498,nssv1504642,nssv1513658 M 6533 1 2 "" SP52688,SP55820,SP56848 nsv889790 8 2123169 2249691 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572523 S 6533 1 0 "" IS33115 nsv512938 8 2126702 2126752 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625587 S 1 1 0 "" 1 nsv465307 8 2128549 2139361 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541127 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00062 dgv854n27 8 2128549 2149713 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465311,nsv465313,nsv465308,nsv465310,nsv465309,nsv465312,nsv465314 M 1557 0 7 "" HGDP00025,HGDP00230,HGDP00438,HGDP00599,HGDP00612,HGDP00650,HGDP01399 essv3946 8 2129674 2191803 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18970 nsv889798 8 2131199 2168947 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502490 S 6533 0 1 "" SP51216 nsv396854 8 2132601 2132601 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415432 M 24 "" dgv67n64 8 2133500 2145944 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818574,nsv818575 M 112 0 2 "" NA18558,NA18608 esv2985 8 2135716 2135899 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25426 S 1 0 1 Single Asian sample YH "" YH esv997343 8 2135764 2135849 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570843 S 3 0 1 "" HuRef dgv1163n67 8 2137956 2149048 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824481,nsv824480 M 31 0 2 "" AK14,AK2 nsv442328 8 2140221 2145353 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514465 8 2140568 2145045 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627924 S 1414 0 1 "" esv1466375 8 2144388 2144500 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3894253 S 2 0 1 "" HuRef esv1365484 8 2144579 2144663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3631030 S 2 0 1 "" HuRef nsv889799 8 2145944 2192738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506323,nssv1511982 M 6533 2 0 "" SP54196,SP55219 esv2274444 8 2152028 2152489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859605 S 1 0 1 "" NA18507 esv2422292 8 2153586 2431221 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161394 S 181 1 0 "" ND00709 nsv509247 8 2154140 2190390 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619518 S 4 1 0 "" NA10860 esv988506 8 2160724 2330911 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564980 S 3 0 0 "" HuRef esv2422319 8 2163275 2553922 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161451 S 181 1 0 "" ND05052 dgv7611n71 8 2168947 2277196 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889801,nsv889802,nsv889803,nsv889800 M 6533 4 0 "" IS39243,SP55842,SP56267,SP57379 nsv7413 8 2170740 2360544 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11175,nssv5051,nssv1709,nssv9740,nssv712,nssv6195,nssv9741,nssv710,nssv3610,nssv10597,nssv3609,nssv10598,nssv6194,nssv9454,nssv10599,nssv3612,nssv5050,nssv1708,nssv5049 M 9 0 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv6048 8 2171813 2192861 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5048 S 9 1 0 "" NA19129 esv2450626 8 2180672 2277677 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184682 S 1 1 0 "" NA18507 esv24750 8 2182573 2183043 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18297 S 451 0 1 "" NA18909 esv2352465 8 2187092 2187521 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973305 S 1 0 1 "" NA18507 esv1007367 8 2187220 2187290 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576879 S 3 0 1 "" HuRef nsv512021 8 2189114 2190910 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624569 S 1 0 1 "" 1 dgv7612n71 8 2189167 2372635 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889804,nsv889811,nsv889806,nsv889805 M 6533 4 0 "" MS18503,MS19304,SP50996,SP58480 esv2305409 8 2194933 2195419 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939418 S 1 0 1 "" NA18507 dgv7613n71 8 2196354 2254003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889810,nsv889808,nsv889807,nsv889809 M 6533 6 0 "" SP50530,SP51481,SP53687,SP55663,SP56143,SP57270 nsv397014 8 2200870 2200870 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415592 M 24 "" nsv398120 8 2201031 2201031 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416698 M 24 "" nsv517808 8 2202194 2956184 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694167 S 2026 1 0 CSMD1 esv2549945 8 2202431 2203684 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285614 S 1 0 1 "" NA18507 nsv8264 8 2202506 2205942 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17166,nssv16465,nssv15610,nssv17128,nssv17671,nssv19664,nssv18951,nssv16696,nssv18747,nssv16354 M 31 3 7 Samples from several populations that are part of the HapMap project. "" NA10839,NA10863,NA12802,NA18517,NA18552,NA18860,NA18980,NA19132,NA19144,NA19240 esv2357141 8 2202546 2203049 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641455 S 1 0 1 "" NA18507 nsv512022 8 2202571 2203561 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624570 S 1 0 1 "" 1 esv25319 8 2202704 2203614 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9962 S 451 0 4 "" NA12776,NA18508,NA18907,NA19257 esv6558 8 2202772 2203494 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28999 S 1 0 1 "" SJK dgv7614n71 8 2213788 2249691 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889812,nsv889813 M 6533 7 0 "" SP50102,SP50144,SP50870,SP55763,SP56116,SP56126,SP57205 nsv469662 8 2215496 2435332 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649591 M 265 1 0 Samples from several populations that are part of the HapMap project. "" dgv7615n71 8 2219456 2254003 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889817,nsv889818,nsv889815,nsv889814,nsv889816 M 6533 7 0 "" SP50882,SP53036,SP54442,SP55807,SP55852,SP56224,SP56828 dgv137n17 8 2220166 2283162 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437585,nsv437587,nsv437586 M 60 0 3 "" NA18503,NA18515,NA19173 dgv2173e1 8 2226740 2259919 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8047,essv19328 M 271 0 0 "" NA12872,NA19103 nsv6049 8 2230773 2257418 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv711 S 9 0 1 "" NA19240 dgv7616n71 8 2232502 2329741 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889819,nsv889820,nsv889830 M 6533 4 0 "" IS34491,MS11765,MS23720,MS24108 dgv7617n71 8 2232502 2383995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889822,nsv889821,nsv889827,nsv889823,nsv889828,nsv889831,nsv889832 M 6533 12 0 "" IS37157,SP54058,SP54090,SP54171,SP54197,SP54621,SP57642,SP57728,SP81276,SP81422,SP81459,SP81501 dgv7618n71 8 2232502 2490274 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889847,nsv889824,nsv889833,nsv889825 M 6533 4 0 "" IS31651,IS35279,IS36077,IS38399 nsv8265 8 2232990 2257526 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16226,nssv17196,nssv16785,nssv17369,nssv16726,nssv18582,nssv15469,nssv18853,nssv16370,nssv16307,nssv15131,nssv18981,nssv19694,nssv17558,nssv16923,nssv19193,nssv18807,nssv16014,nssv16495,nssv20220,nssv15785,nssv17469,nssv17028,nssv15640,nssv16384,nssv15892 M 31 20 6 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173,NA19221 nsv433395 8 2233782 2275525 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463276 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv889826 8 2233809 2290290 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515707 S 6533 1 0 "" SP56248 dgv1164n67 8 2234243 2251211 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824483,nsv824484 M 31 2 0 "" AK20,NA18999 nsv819616 8 2234351 2254162 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418681 S 2 1 0 "" AK1 esv1010082 8 2235362 2257025 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565187 S 3 0 1 "" HuRef nsv436572 8 2236452 2254936 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466429 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv23048 8 2241102 2258103 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12445,esv15309 M 451 27 4 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19225,NA19257 dgv1165n67 8 2241260 2251211 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824486,nsv824485,nsv824488 M 31 28 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 esv33002 8 2241489 2251040 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96993,essv95754,essv94538,essv99062,essv100489,essv94291 M 51 0 6 "" 21817,21841,21932,21938,22298,22394 dgv2174e1 8 2241720 2258689 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10723,essv14007 M 271 0 0 "" NA18508,NA19222 nsv442335 8 2242045 2246765 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv437588 8 2242110 2250519 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467469 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19145 nsv438017 8 2242110 2250519 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469622,nssv469624,nssv469631,nssv469616,nssv469632,nssv469625,nssv469621,nssv469628,nssv469627,nssv469623,nssv469626,nssv469619,nssv469633,nssv469620,nssv469617 M 269 0 15 Samples from several populations that are part of the HapMap project. "" NA07000,NA07029,NA18500,NA18501,NA18503,NA18504,NA19101,NA19103,NA19127,NA19130,NA19137,NA19172,NA19173,NA19203,NA19209 nsv514466 8 2242685 2250231 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627926 S 1414 0 1 "" nsv433491 8 2243942 2249691 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463372 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 dgv7619n71 8 2244333 2324501 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889834,nsv889835,nsv889829 M 6533 4 0 "" IS31385,MS12785,MS15375,MS25382 nsv433396 8 2254003 2275525 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463277 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv990624 8 2259271 2259271 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567329 S 3 1 0 "" HuRef nsv397682 8 2259273 2259273 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416260 M 24 "" esv1634548 8 2259287 2259287 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831134 S 2 1 0 "" HuRef nsv510976 8 2262004 2365155 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621604,nssv624322,nssv622385,nssv618661 M 4 0 0 "" CHM,NA10860,NA15510,NA18994 esv270151 8 2262950 2263290 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546512,essv2544109,essv2555065,essv2520996,essv2575383,essv2560599,essv2537905,essv2532938,essv2557808 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA10851,NA11881,NA11992,NA12872,NA18498,NA19099,NA19116 nsv20 8 2270843 2278367 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv20 S 1 0 0 "" NA15510 esv1006887 8 2272401 2318791 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564049 S 3 0 0 "" HuRef nsv499092 8 2272403 2311990 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585566 S 9 0 0 "" nsv889836 8 2274198 2290290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503216 S 6533 0 1 "" SP52008 nsv889837 8 2275525 2292919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513659 S 6533 1 0 "" SP55820 nsv889838 8 2275525 2307204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533872,nssv1534965 M 6533 2 0 "" MS11312,MS11858 dgv7620n71 8 2275525 2324501 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889849,nsv889840,nsv889848 M 6533 0 5 "" SP50038,SP50882,SP52761,SP54299,SP58299 dgv7621n71 8 2275525 2334306 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889842,nsv889839,nsv889841 M 6533 4 0 "" MS15218,MS15479,MS18153,MS18436 dgv7622n71 8 2275525 2383995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889846,nsv889845,nsv889843,nsv889844,nsv889850 M 6533 6 0 "" MS12157,SP51379,SP52224,SP52685,SP55926,SP57137 nsv465315 8 2277246 2478431 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541135 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00080 dgv855n27 8 2277246 2570171 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465329,nsv465316,nsv465326,nsv465330,nsv465331,nsv465327 M 1557 6 0 "" 1780854206_A,1780854334_A,1780862109_A,1780862520_A,NINDS_134,NINDS_89 dgv7623n71 8 2295570 2358289 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889851,nsv889852 M 6533 2 0 "" SP50904,SP53685 nsv8266 8 2303064 2307299 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15815 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 dgv2175e1 8 2303623 2411266 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2063,essv5584,essv387,essv18099,essv17741,essv21870,essv22922 M 271 0 0 "" NA10831,NA11839,NA11993,NA12760,NA18529,NA18949,NA18971 esv21907 8 2304312 2317158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18041,esv11396,esv21269 M 451 0 6 "" NA11894,NA11931,NA12004,NA12239,NA18508,NA19190 esv5130 8 2309377 2309798 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27571 S 1 0 1 Single Asian sample YH "" YH esv2163353 8 2309386 2309872 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966107 S 1 0 1 "" NA18507 dgv241e55 8 2310221 2591249 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752249,esv2752247,esv2752246,esv2752248,esv2752250 M 771 5 0 "" BEC_11,BEC_665,BEC_668,BEC_705,SPC_113 nsv889853 8 2311452 2383995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524998 S 6533 1 0 "" SP55426 dgv7624n71 8 2324501 2358289 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889854,nsv889855 M 6533 2 0 "" SP52680,SP53821 dgv7625n71 8 2324501 2383995 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889857,nsv889858,nsv889856,nsv889863 M 6533 4 0 "" SP54196,SP56726,SP58257,SP81354 nsv889859 8 2324501 2420886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507134 S 6533 1 0 "" SP54477 dgv7626n71 8 2324501 2613660 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889865,nsv889869,nsv889864,nsv889860 M 6533 5 0 "" IS33590,IS35624,IS38379,IS39391,SP51216 esv25365 8 2326916 2327793 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10090 S 451 0 2 "" NA12006,NA18523 nsv889861 8 2329741 2353055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515708 S 6533 1 0 "" SP56248 dgv7627n71 8 2329741 2366114 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889862,nsv889868 M 6533 2 0 "" SP54663,SP55219 dgv7628n71 8 2329741 2789195 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889866,nsv889867 M 6533 2 0 CSMD1 IS35102,SP54408 nsv470169 8 2334306 2413910 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546608 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00693 nsv889870 8 2349491 2490274 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533873 S 6533 1 0 "" MS11312 nsv396764 8 2352049 2352049 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415342 M 24 "" nsv889871 8 2394805 2510805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516637 S 6533 1 0 "" SP56880 nsv889872 8 2399414 2671336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508372 S 6533 1 0 "" SP54663 nsv512023 8 2466902 2469762 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624571 S 1 0 1 "" 1 esv2652759 8 2467556 2469077 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251976 S 1 0 1 "" NA18507 esv4956 8 2467818 2468509 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27397 S 1 0 1 Single Asian sample YH "" YH nsv396848 8 2467848 2468094 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415426 M 24 "" esv1003128 8 2467849 2467940 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571505 S 3 0 1 "" HuRef nsv396067 8 2467850 2467941 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414645 M 24 "" esv991518 8 2468427 2469072 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563644 S 3 0 1 "" HuRef nsv889873 8 2472081 2536323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559634 S 6533 0 1 "" MS24073 nsv889874 8 2498943 2705242 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575850 S 6533 1 0 "" IS33830 dgv7629n71 8 2545875 2745398 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889877,nsv889876,nsv889875,nsv889879 M 6533 4 0 "" IS34775,IS35903,MS17953,SP58257 dgv7630n71 8 2570171 2864910 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889882,nsv889878 M 6533 2 0 CSMD1 MS16153,MS22076 esv28306 8 2575570 2580452 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13691 S 451 0 1 "" NA11931 nsv520217 8 2583385 2586084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697288 S 2026 0 1 "" nsv889880 8 2588854 2655117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527456 S 6533 0 1 "" SP58433 nsv889881 8 2598549 2655117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523125 S 6533 1 0 "" SP53685 nsv831209 8 2612347 2798932 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446830 S 95 0 1 CSMD1 nsv395885 8 2622119 2622266 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414463 M 24 "" nsv397431 8 2622221 2622221 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416009 M 24 "" nsv398038 8 2622354 2622354 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416616 M 24 "" nsv889883 8 2626605 2796267 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538102 S 6533 1 0 CSMD1 MS13480 esv26249 8 2639661 2640356 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17795 S 451 0 14 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA12044,NA12776,NA12878,NA15510,NA18523,NA18916,NA19099,NA19190,NA19240 esv991666 8 2640249 2640321 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569313 S 3 0 1 "" HuRef esv1157366 8 2640272 2640345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4177495 S 2 0 1 "" HuRef nsv889884 8 2669694 2727395 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502495 S 6533 1 0 "" SP51216 dgv2176e1 8 2684771 2697799 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10970,esv1336,esv1272 M 271 0 0 "" NA19092 nsv818576 8 2687326 2696514 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418290 S 112 0 1 "" NA19092 nsv465341 8 2694184 2714722 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541145 S 1557 1 0 "" 1780854123_A nsv889885 8 2694184 2727395 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571396,nssv1501167 M 6533 1 1 "" IS32719,SP50925 esv1149547 8 2700758 2700758 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862118 S 2 1 0 "" HuRef esv1519805 8 2714263 2714263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812772 S 2 1 0 "" HuRef esv2026012 8 2727110 2727534 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647817 S 1 0 1 "" NA18507 esv1582471 8 2727305 2727417 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266819 S 2 0 1 "" HuRef nsv397283 8 2727438 2727549 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415861 M 24 "" nsv889886 8 2727909 2864910 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548950 S 6533 1 0 CSMD1 MS17953 nsv889887 8 2727909 3130717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575851 S 6533 1 0 CSMD1 IS33830 nsv889888 8 2737236 2942322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501064 S 6533 1 0 CSMD1 SP50925 nsv889889 8 2746728 2835200 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578433 S 6533 1 0 CSMD1 IS34775 nsv889890 8 2761464 2780146 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508907 S 6533 1 0 "" SP54663 nsv396579 8 2763667 2764429 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415157 M 24 "" esv6635 8 2765982 2766215 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29076 S 1 0 1 "" SJK nsv889891 8 2768684 2818850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550383 S 6533 1 0 CSMD1 MS18431 nsv521223 8 2771825 2775515 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697853 S 2026 0 1 "" nsv520737 8 2796904 2812657 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692906,nssv674863 M 2026 2 0 CSMD1 nsv831210 8 2854979 2917329 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446831 S 95 0 1 CSMD1 nsv889892 8 2858772 2887382 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550384 S 6533 1 0 CSMD1 MS18431 nsv396910 8 2869889 2870112 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415488 M 24 CSMD1 nsv470170 8 2870795 2887382 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546609 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01182 esv22870 8 2874575 2877927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15637 S 451 0 1 CSMD1 NA12004 nsv515545 8 2877299 2878216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674464,nssv668285,nssv692198,nssv656645,nssv663870,nssv681962,nssv691088,nssv671033,nssv688096,nssv679718,nssv671618,nssv693989,nssv668366,nssv678706,nssv660362,nssv667832,nssv673956,nssv654433,nssv679067,nssv674709,nssv691687,nssv680567,nssv674134,nssv668779,nssv682558,nssv664639 M 2026 0 26 CSMD1 nsv526570 8 2896758 2898923 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702886 S 2026 1 0 CSMD1 nsv398434 8 2921320 2921320 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417012 M 24 CSMD1 nsv889893 8 2934787 2942565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514801 S 6533 0 1 CSMD1 SP56084 nsv889894 8 2937597 2953735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550385 S 6533 1 0 CSMD1 MS18431 esv1004218 8 2980335 2980401 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568933 S 3 0 1 CSMD1 HuRef esv1071195 8 2980412 2980479 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853075 S 2 0 1 CSMD1 HuRef nsv397826 8 3028066 3028066 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416404 M 24 CSMD1 nsv397290 8 3028313 3028442 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415868 M 24 CSMD1 nsv396552 8 3028499 3028628 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415130 M 24 CSMD1 esv269914 8 3034611 3034779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500848,essv2495454,essv2511420,essv2495309,essv2508078,essv2510307,essv2507769,essv2505052 M 157 8 0 Samples from several populations that are part of the HapMap project. CSMD1 NA11830,NA11919,NA11920,NA11992,NA12045,NA12414,NA12751,NA12828 esv1930361 8 3034974 3035464 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4931133 S 1 0 1 CSMD1 NA18507 nsv397068 8 3035198 3035275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415646 M 24 CSMD1 esv1080773 8 3055411 3055411 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779178 S 2 1 0 CSMD1 HuRef nsv465343 8 3077146 3089614 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541146 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01416 nsv470171 8 3077146 3089614 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546611 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01416 esv1325952 8 3082808 3082808 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3753389 S 2 1 0 CSMD1 HuRef esv27182 8 3083466 3088443 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16357 S 451 1 0 CSMD1 NA19257 nsv520856 8 3102572 3115425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697652 S 2026 0 1 CSMD1 esv24029 8 3126762 3128327 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9985,esv21358 M 451 3 0 CSMD1 NA11993,NA19147,NA19240 nsv889895 8 3130717 3151426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540122,nssv1539895 M 6533 0 2 CSMD1 MS14566,MS14702 esv2396458 8 3132626 3135959 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603159 S 1 0 1 CSMD1 NA18507 esv2147064 8 3148673 3149095 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4813886 S 1 0 1 CSMD1 NA18507 nsv889896 8 3153184 3250338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575852 S 6533 1 0 CSMD1 IS33830 esv275369 8 3155305 3158001 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585240 S 1250 0 1 CSMD1 nsv889897 8 3156682 3171047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550386 S 6533 1 0 CSMD1 MS18431 nsv525017 8 3156682 3177303 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701056 S 2026 0 1 CSMD1 esv3695 8 3168741 3169423 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26136 S 1 1 0 Single Asian sample YH CSMD1 YH esv22127 8 3168778 3169628 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10013 S 451 1 0 CSMD1 NA15510 esv1007346 8 3169114 3169184 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581331 S 3 0 1 CSMD1 HuRef esv1427249 8 3169121 3169192 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188558 S 2 0 1 CSMD1 HuRef nsv889898 8 3190578 3217219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536772 S 6533 0 1 CSMD1 MS12947 nsv824489 8 3209306 3209963 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434513 S 31 0 1 CSMD1 NA18570 esv2050334 8 3228173 3228582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680667 S 1 0 1 CSMD1 NA18507 dgv1166n67 8 3233407 3234844 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824490,nsv824491 M 31 3 0 CSMD1 AK10,AK18,NA18999 esv1608141 8 3256902 3256902 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979620 S 2 1 0 CSMD1 HuRef esv2621204 8 3292974 3293977 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314935 S 1 1 0 CSMD1 NA18507 nsv465344 8 3307156 3320535 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541147 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00160 esv275154 8 3316278 3319644 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586005 S 1250 0 1 CSMD1 nsv519649 8 3336092 3337007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696973 S 2026 0 1 CSMD1 nsv6050 8 3354276 3386846 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3613 S 9 1 0 CSMD1 NA12878 esv8471 8 3368575 3368882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30912 S 1 0 1 CSMD1 SJK nsv465345 8 3379608 3411256 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541148 S 1557 0 1 CSMD1 NINDS_160 nsv889899 8 3381878 3411256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502505 S 6533 0 1 CSMD1 SP51226 esv28911 8 3393183 3393938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16070 S 451 0 1 CSMD1 NA18909 esv27958 8 3398645 3400395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14984 S 451 1 0 CSMD1 NA18508 esv1166518 8 3403216 3403474 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259152 S 2 0 1 CSMD1 HuRef nsv525922 8 3408223 3411256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702126 S 2026 0 1 CSMD1 dgv7631n71 8 3429858 3440295 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889901,nsv889900 M 6533 0 8 CSMD1 IS34768,IS34791,IS35717,IS36022,IS41263,IS41926,IS41973,MS12861 nsv465346 8 3431416 3437725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541149 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00234 nsv522726 8 3431416 3437725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698357 S 2026 0 1 CSMD1 esv269294 8 3432978 3433120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496720,essv2503006,essv2506159,essv2493870 M 157 4 0 Samples from several populations that are part of the HapMap project. CSMD1 NA18498,NA18507,NA18523,NA19210 nsv522274 8 3437007 3437725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695054 S 2026 0 1 CSMD1 nsv889902 8 3443246 3461498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526401 S 6533 0 1 CSMD1 SP57540 nsv818577 8 3448656 3465484 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418474 S 112 0 1 CSMD1 NA19193 nsv523775 8 3448905 3449120 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699598 S 2026 0 1 CSMD1 nsv465347 8 3455113 3465853 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541150 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00903 dgv856n27 8 3470227 3475176 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465349,nsv465348 M 1557 0 2 CSMD1 HGDP01030,HGDP01036 nsv397027 8 3483383 3488630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415605 M 24 CSMD1 nsv831211 8 3492068 3647702 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446832 S 95 1 0 CSMD1 nsv465351 8 3508331 3530369 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541154 S 1557 0 1 CSMD1 1782681263_A esv1106075 8 3515824 3515824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968193 S 2 1 0 CSMD1 HuRef esv1003798 8 3516411 3516474 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579704 S 3 0 1 CSMD1 HuRef nsv396871 8 3516415 3516466 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415449 M 24 CSMD1 esv1661985 8 3516442 3516508 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127697 S 2 0 1 CSMD1 HuRef esv22958 8 3517038 3517578 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18815 S 451 1 0 CSMD1 NA19147 nsv889903 8 3548168 3563337 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577425 S 6533 0 1 CSMD1 IS34440 dgv2177e1 8 3551652 3554023 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24948,esv1098,esv1117 M 271 0 0 CSMD1 NA12707 esv29406 8 3554184 3555738 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18414 S 451 1 0 CSMD1 NA19190 nsv6051 8 3559600 3604119 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1710 S 9 0 1 CSMD1 NA18555 esv29306 8 3567454 3569091 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13563,esv11464 M 451 4 0 CSMD1 NA12828,NA18523,NA18916,NA19129 nsv465352 8 3567534 3574226 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541155 S 1557 0 1 CSMD1 NINDS_131 nsv889904 8 3567776 3773951 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559194 S 6533 1 0 CSMD1 MS23770 nsv6052 8 3570249 3604086 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8461 S 9 1 0 CSMD1 NA12156 dgv2178e1 8 3586932 5942813 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3273,essv3165,essv1551,essv2930,esv809,esv585,essv1414,essv2955 M 271 0 0 CSMD1 NA18972,NA19007,NA19012 nsv519760 8 3609467 3635298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697035 S 2026 0 1 CSMD1 nsv821655 8 3611005 4928252 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421203,nssv1421201 M 31 2 0 CSMD1 esv272976 8 3614328 3614686 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580424 S 7 1 0 Samples from several populations that are part of the HapMap project. CSMD1 NA12891 esv267391 8 3614351 3614678 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525898,essv2542480,essv2536737,essv2556778,essv2523479,essv2577313,essv2548395,essv2521463,essv2576577,essv2550792,essv2535076,essv2544246,essv2547146,essv2576148,essv2562008,essv2528628,essv2553069,essv2541372,essv2542818,essv2567878,essv2535579,essv2560283,essv2535950,essv2548687,essv2533430,essv2554501 M 157 26 0 Samples from several populations that are part of the HapMap project. CSMD1 NA06986,NA07037,NA07051,NA07346,NA11918,NA11919,NA11920,NA11994,NA12004,NA12043,NA12045,NA12144,NA12154,NA12155,NA12249,NA12414,NA12717,NA12814,NA12874,NA12891,NA18542,NA18545,NA18550,NA18577,NA18608,NA19190 nsv397509 8 3617345 3617428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416087 M 24 CSMD1 nsv397194 8 3617371 3617428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415772 M 24 CSMD1 esv1491965 8 3617402 3617456 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774381 S 2 0 1 CSMD1 HuRef nsv398299 8 3617565 3617620 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416877 M 24 CSMD1 nsv527376 8 3629330 3630327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703808 S 2026 0 1 CSMD1 nsv8267 8 3631313 3635126 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17588,nssv20250 M 31 0 2 Samples from several populations that are part of the HapMap project. CSMD1 NA12155,NA19221 esv1048775 8 3641186 3641186 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614633 S 2 1 0 CSMD1 HuRef nsv889905 8 3658048 3671607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560385 S 6533 0 1 CSMD1 MS24459 dgv7632n71 8 3662082 3804599 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889910,nsv889908,nsv889907,nsv889909,nsv889906 M 6533 0 9 CSMD1 IS30350,IS34809,IS37098,IS38464,IS38549,IS39646,IS39881,IS41042,IS41284 nsv524848 8 3671607 3696715 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700850 S 2026 0 1 CSMD1 nsv889911 8 3672857 5938973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521613 S 6533 1 0 CSMD1 SP52458 nsv8268 8 3673110 5938878 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17768,nssv15700,nssv18867,nssv20340,nssv18927,nssv16367,nssv17731,nssv16460,nssv16044,nssv17459,nssv16816,nssv19003,nssv19041,nssv16256,nssv16953,nssv15730,nssv20310,nssv16400,nssv19071,nssv17589,nssv17701,nssv16786,nssv17499,nssv17188,nssv18612,nssv18837,nssv17708,nssv15790,nssv18943,nssv16555,nssv16337,nssv16983,nssv16777,nssv15922,nssv17559,nssv17678,nssv17278,nssv15905,nssv16525,nssv19011,nssv16717,nssv17256,nssv15845,nssv15875,nssv16520,nssv17013,nssv17529,nssv16807,nssv16815,nssv16442,nssv16472,nssv17648,nssv16875,nssv17618,nssv16534,nssv16846,nssv17226,nssv18913,nssv18883,nssv16615,nssv16876,nssv16490,nssv19131,nssv19784,nssv18642,nssv16382,nssv17791,nssv15559,nssv15499,nssv16502,nssv19161,nssv16585,nssv18897,nssv16074,nssv15952,nssv16444,nssv17399,nssv20280,nssv16474,nssv19223,nssv17248,nssv15529,nssv19814,nssv18973,nssv15191,nssv16504,nssv17058,nssv15221,nssv15589,nssv17218,nssv16845,nssv16134,nssv15161,nssv19724,nssv15670,nssv17821,nssv17158,nssv16352 M 31 30 18 Samples from several populations that are part of the HapMap project. CSMD1 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv465353 8 3674807 5938053 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541156 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00747 nsv818579 8 3674807 5938053 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417580 S 112 1 0 CSMD1 NA18972 dgv242e55 8 3674807 5953489 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34221,esv34327,esv35028 M 771 3 0 CSMD1 NA18972,NA19007,NA19012 esv1558204 8 3683656 3683712 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3730316 S 2 0 1 CSMD1 HuRef nsv522242 8 3697068 3705388 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695022 S 2026 0 1 CSMD1 nsv516222 8 3729762 3732042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673915,nssv660002,nssv666885 M 2026 0 3 CSMD1 dgv7633n71 8 3729762 3820139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889913,nsv889912 M 6533 0 3 CSMD1 IS33208,IS35867,IS41319 nsv518942 8 3745558 3750948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696409 S 2026 0 1 CSMD1 nsv518459 8 3757879 3760056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695896 S 2026 0 1 CSMD1 nsv6053 8 3757915 3789724 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1711,nssv10600 M 9 0 2 CSMD1 NA18555,NA18956 nsv507435 8 3759055 3765055 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621899 S 4 1 0 CSMD1 NA10860 nsv525969 8 3760537 3765443 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702183 S 2026 1 0 CSMD1 dgv7634n71 8 3765863 3778770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889915,nsv889914 M 6533 0 3 CSMD1 MS14920,MS15234,MS21868 nsv522307 8 3766260 3766865 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694154 S 2026 0 1 CSMD1 nsv516708 8 3769301 3778770 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693451,nssv657907,nssv683216,nssv679158,nssv672097,nssv683985,nssv671730,nssv653226,nssv690172,nssv663912,nssv679702,nssv687187,nssv688946,nssv683408,nssv683906,nssv672880,nssv687509,nssv676818,nssv683517,nssv674431,nssv684378,nssv657032,nssv672339,nssv678957,nssv665960,nssv673628,nssv660363,nssv677827,nssv681588,nssv672579,nssv689075,nssv657390,nssv680925,nssv682778,nssv662369,nssv684447,nssv681729,nssv665542,nssv665282,nssv669395,nssv657225,nssv680404,nssv669665,nssv677500,nssv677113,nssv659812,nssv659885,nssv674735,nssv686514,nssv664225,nssv668031,nssv692019,nssv659696,nssv669821,nssv675394,nssv658422,nssv690333,nssv651856,nssv664210,nssv686475,nssv663841,nssv670299,nssv671213,nssv675037,nssv660678,nssv682336,nssv680496,nssv659406,nssv688731,nssv655955,nssv662503,nssv653068,nssv657731,nssv670216,nssv654301,nssv654837,nssv653360,nssv685278,nssv693304,nssv664492,nssv668825,nssv664798,nssv681473,nssv661375,nssv686693,nssv673150,nssv663112,nssv674465,nssv689119,nssv689879,nssv687972,nssv693885,nssv679057,nssv680638,nssv684555,nssv667554,nssv667588,nssv658664,nssv663747,nssv692907,nssv657755,nssv691546,nssv662842,nssv672120,nssv653638,nssv671989,nssv657106,nssv692725,nssv669227,nssv661575,nssv678025,nssv666009,nssv664053,nssv672690,nssv658803,nssv658923,nssv692353,nssv657927,nssv679884,nssv669079,nssv677291,nssv686044,nssv666061,nssv657647,nssv663532,nssv686237,nssv655199,nssv671072,nssv677366,nssv682941,nssv657697,nssv674842,nssv680136,nssv692827,nssv672751,nssv662349,nssv666188,nssv689473,nssv669025,nssv678611,nssv672149,nssv686655,nssv688852,nssv665421,nssv667331,nssv661003,nssv666243,nssv684775,nssv668321,nssv662178,nssv669462,nssv654043,nssv668464,nssv676456,nssv674135,nssv676308,nssv692840,nssv664936,nssv660395,nssv678363,nssv667273,nssv677546,nssv670276,nssv659391,nssv668431,nssv681616,nssv678412,nssv681922,nssv675686,nssv660918,nssv653386,nssv673837,nssv689277,nssv662912,nssv654940,nssv673326,nssv687656,nssv655391,nssv686540,nssv673426,nssv675892,nssv669947,nssv679768,nssv668946,nssv676126,nssv689349,nssv653416,nssv659211,nssv670668,nssv654394,nssv689640,nssv672199,nssv678545,nssv693970,nssv688756,nssv652643,nssv655984,nssv687994,nssv691890,nssv681565,nssv664640,nssv673979,nssv672908,nssv653933,nssv667782,nssv681399,nssv681270,nssv684849,nssv654456,nssv671602,nssv666638,nssv664096,nssv684142,nssv683328,nssv687681,nssv666469,nssv661128,nssv678707 M 2026 0 218 CSMD1 dgv7635n71 8 3769301 3781008 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889920,nsv889916,nsv889917,nsv889919,nsv889918 M 6533 0 19 CSMD1 IS31338,IS35788,IS36117,IS38226,IS39326,IS41807,MS10942,MS12827,MS13621,MS14268,MS17399,MS18454,MS20346,MS20843,MS24011,MS24785,MS24951,SP57367,SP57368 esv2243457 8 3770784 3771257 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569469 S 1 0 1 CSMD1 NA18507 nsv436589 8 3773043 3779724 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466430 S 2 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA18505 esv24305 8 3773272 3777688 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16141,esv15163 M 451 0 4 CSMD1 NA06985,NA12004,NA18505,NA18909 nsv471725 8 3773395 3777972 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646006 M 0.192 95 CSMD1 nsv499432 8 3773421 3778159 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586062 S 9 0 1 CSMD1 nsv824492 8 3773426 3778199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422710,nssv1432171,nssv1427595 M 31 0 3 CSMD1 AK20,AK8,NA18552 nsv514467 8 3773528 3777649 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627927 S 1414 0 0 CSMD1 esv2421967 8 3773951 3777675 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130104,essv5050532,essv5027118,essv5044146,essv5042960,essv5060765,essv5072160,essv5151602,essv5125579,essv5039942,essv5008302,essv5066539,essv5083036,essv5114984,essv5142748,essv5136166,essv5123895,essv5128758,essv5105321,essv5037052,essv5127646,essv5024573,essv5117454,essv5109710,essv5018568,essv5087187,essv5035872,essv5035221,essv5112425,essv5026412,essv5124755,essv5159178,essv5116880,essv5027494,essv5054703,essv5044725,essv5149126,essv5098850,essv5096024,essv5006651,essv5158758,essv5105377,essv5086361,essv5017452,essv5148901,essv5149515,essv5044330,essv5076849,essv5024802,essv5018813,essv5050029,essv5027980,essv5048448,essv5138502,essv5122288,essv5066648,essv5043124,essv5150647,essv5155017,essv5027122,essv5022783,essv5114472,essv5084871,essv5013477,essv5002207,essv5044115,essv5155599,essv5071865,essv5038049,essv5030312,essv5083409,essv5034492,essv5155968,essv5132302,essv5104571,essv5155193,essv5083401,essv5141170,essv5022201,essv5105421,essv5128347,essv5077154,essv5069453,essv5119641,essv5005867,essv5070565,essv5027853,essv5060850,essv5054576,essv5074915,essv5033630,essv5126414,essv5094550,essv5013068,essv5048547,essv5156233,essv5050869,essv5104323,essv5091483,essv5108580,essv5061968,essv5143641,essv5082567,essv5034477,essv5069612,essv5016471,essv5072711 M 1184 0 107 CSMD1 NA06985,NA10838,NA10839,NA12005,NA12275,NA12375,NA12400,NA12546,NA12707,NA12740,NA12750,NA17975,NA17986,NA18106,NA18107,NA18114,NA18125,NA18128,NA18133,NA18136,NA18486,NA18489,NA18497,NA18499,NA18505,NA18509,NA18510,NA18511,NA18529,NA18552,NA18555,NA18557,NA18636,NA18745,NA18909,NA18911,NA18933,NA18935,NA18956,NA18960,NA18990,NA18993,NA19028,NA19035,NA19077,NA19116,NA19121,NA19123,NA19160,NA19179,NA19198,NA19248,NA19316,NA19318,NA19324,NA19328,NA19429,NA19437,NA19455,NA19457,NA19462,NA19473,NA19669,NA19684,NA19686,NA19703,NA19705,NA19794,NA19900,NA19902,NA20276,NA20277,NA20279,NA20281,NA20282,NA20284,NA20300,NA20301,NA20340,NA20341,NA20502,NA20509,NA20519,NA20774,NA20786,NA20804,NA20850,NA20859,NA20870,NA20875,NA20882,NA20890,NA20897,NA20907,NA20909,NA21098,NA21113,NA21301,NA21302,NA21344,NA21365,NA21366,NA21418,NA21434,NA21523,NA21631,NA21723 dgv857n27 8 3774231 3777675 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465357,nsv465355,nsv465359,nsv465356,nsv465354,nsv465358 M 1557 0 6 CSMD1 HGDP00541,HGDP00663,HGDP00926,NINDS_113,NINDS_135,NINDS_205 nsv818580 8 3774231 3777675 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415968,nssv1416647,nssv1417731,nssv1417870,nssv1415967,nssv1417468,nssv1416754,nssv1417089 M 112 0 8 CSMD1 NA06985,NA12740,NA12750,NA18529,NA18960,NA19003,NA19116,NA19160 nsv442356 8 3774469 3777514 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CSMD1 dgv7636n71 8 3776007 3794293 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889921,nsv889922 M 6533 2 0 CSMD1 MS18431,MS23770 nsv465360 8 3776680 3777675 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541163 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00723 nsv522390 8 3777675 3779391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695170 S 2026 1 0 CSMD1 nsv889923 8 3777675 3804599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584628 S 6533 0 1 CSMD1 IS37098 nsv831212 8 3781339 3973562 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446833 S 95 1 0 CSMD1 nsv824493 8 3783922 3785118 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433897 S 31 0 1 CSMD1 NA18592 esv26980 8 3801716 3803959 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11299 S 451 3 0 CSMD1 NA12414,NA12489,NA15510 nsv889924 8 3815546 4168252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559196 S 6533 1 0 CSMD1 MS23770 esv2752253 8 3817272 3843394 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989645,essv6982539 M 771 0 1 CSMD1 BEC_565 nsv396883 8 3828896 3829021 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415461 M 24 CSMD1 nsv522676 8 3842132 3842395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706082 S 2026 0 1 CSMD1 nsv889925 8 3853078 3867208 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589044 S 6533 0 1 CSMD1 IS38291 nsv516017 8 3854921 3861929 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706107,nssv665755,nssv655161,nssv674265,nssv671603,nssv675038,nssv688947 M 2026 0 7 CSMD1 esv2752254 8 3897504 3908549 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985217,essv6985218 M 771 0 1 CSMD1 SPC_127 nsv889926 8 3899807 4027441 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525811,nssv1529814 M 6533 0 2 CSMD1 MS10123,SP56830 esv2352774 8 3900251 3900700 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4694001 S 1 0 1 CSMD1 NA18507 nsv889927 8 3900306 3914266 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502402 S 6533 1 0 CSMD1 SP51161 nsv889928 8 3926224 4020594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502403 S 6533 1 0 CSMD1 SP51161 nsv517894 8 3929480 4020594 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695302 S 2026 0 1 CSMD1 nsv889929 8 3934733 3951430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582967 S 6533 0 1 CSMD1 IS36219 dgv440n21 8 3948393 3952313 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522614,nsv517770 M 2026 0 5 CSMD1 nsv831213 8 3952434 4114711 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446834 S 95 0 1 CSMD1 nsv519259 8 3955339 3956945 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683329,nssv655849,nssv655107,nssv692660 M 2026 0 4 CSMD1 nsv465363 8 3955339 3972317 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541165 S 1557 1 0 CSMD1 1780862437_A nsv526045 8 3955793 3972317 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702280 S 2026 1 0 CSMD1 essv6531 8 3957010 4010219 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA18611 esv2030318 8 3961312 3961718 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713569 S 1 0 1 CSMD1 NA18507 nsv397564 8 3961323 3961400 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416142 M 24 CSMD1 nsv889930 8 3964245 3982139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527367 S 6533 0 1 CSMD1 SP58387 essv8707 8 3965896 3991249 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA19200 nsv889931 8 3969284 4010219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513479 S 6533 0 1 CSMD1 SP55787 nsv515941 8 3971000 4063457 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666576,nssv661310,nssv655597,nssv684704,nssv686656,nssv704530,nssv671561,nssv684415,nssv691563,nssv672276,nssv688780,nssv658521,nssv676133,nssv667165,nssv686853,nssv682428,nssv652848,nssv660396,nssv703760,nssv666010,nssv667989,nssv675653,nssv684776,nssv693587,nssv687465,nssv676127,nssv677435,nssv666189,nssv653873,nssv662787,nssv660642,nssv663366,nssv655800,nssv674446,nssv686730,nssv668867,nssv688897,nssv652610,nssv667131,nssv687734,nssv664132,nssv691407,nssv689599,nssv664799,nssv686772,nssv661754,nssv663822,nssv690877,nssv684660,nssv654976,nssv661093,nssv658732,nssv656715,nssv677042,nssv656666,nssv665052,nssv664463,nssv684724,nssv681179,nssv653611,nssv665914,nssv669677,nssv691861,nssv693924,nssv666062,nssv680784,nssv656792,nssv661342,nssv662337,nssv685431,nssv660349,nssv679719,nssv673885,nssv661731,nssv691547,nssv691040,nssv663017,nssv676972,nssv689690,nssv670217,nssv685855,nssv668605,nssv672648,nssv686121,nssv663016,nssv658058,nssv678205,nssv659029,nssv673815,nssv676770,nssv674517,nssv692135,nssv666956,nssv653590,nssv667833,nssv659862,nssv677745,nssv657309,nssv671954,nssv673659,nssv686966,nssv665982,nssv661243,nssv680271,nssv681204,nssv681323,nssv684288,nssv687188,nssv657570,nssv698826,nssv687878,nssv688678,nssv687902,nssv666228,nssv666488,nssv676497,nssv679104,nssv675590,nssv689948,nssv671248,nssv680104,nssv677547,nssv702184,nssv677685,nssv692392,nssv684266,nssv653361,nssv675554,nssv691518,nssv676096,nssv658035,nssv672200,nssv681985,nssv659623,nssv680578,nssv662828,nssv667954,nssv667371,nssv685323,nssv664750,nssv655699,nssv668033,nssv666407,nssv661458,nssv663963,nssv656422,nssv692815,nssv668237,nssv660004,nssv652319,nssv690825,nssv672752,nssv670427 M 2026 1 152 CSMD1 nsv889932 8 3974444 3999687 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550388 S 6533 1 0 CSMD1 MS18431 dgv2179e1 8 3981508 3992580 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12066,essv14219,essv9561,essv13370 M 271 0 0 CSMD1 NA18861,NA18913,NA19159,NA19238 esv34888 8 3981508 4010220 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979715,essv6979716,essv6988225 M 771 0 1 CSMD1 NA18611 nsv465364 8 3982139 3992429 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541166 S 1557 0 1 CSMD1 1780862111_A nsv889933 8 3982139 3995365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579064,nssv1595285,nssv1587933 M 6533 0 3 CSMD1 IS35011,IS38141,IS40222 essv7943 8 3982161 4010219 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA19203 dgv1167n67 8 3982178 3983177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824496,nsv824494 M 31 0 4 CSMD1 NA18547,NA18951,NA18973,NA18999 nsv471759 8 3982221 3982727 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646040 M 0.858 95 CSMD1 nsv512024 8 3982244 3983350 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624572 S 1 0 1 CSMD1 1 esv988088 8 3982269 3982908 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587026 S 3 1 0 CSMD1 HuRef nsv824495 8 3982269 3982908 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429932,nssv1425091,nssv1435966 M 31 0 3 CSMD1 AK14,AK2,NA18566 esv6932 8 3982271 3982747 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29373 S 1 0 1 CSMD1 SJK esv26182 8 3982307 3991880 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18979 S 451 0 8 CSMD1 NA07045,NA11931,NA11993,NA12414,NA12828,NA15510,NA18861,NA19147 dgv2180e1 8 3984188 3993078 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10978,essv15927,essv7907 M 271 0 0 CSMD1 NA19092,NA19205,NA19239 esv2421777 8 3984471 3991699 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117984,essv5067640,essv5129907,essv5062545,essv5145823,essv5152642,essv5056223,essv5152887,essv5008536,essv5096026,essv5013316,essv5116187,essv5151849,essv5024111,essv5061213,essv5036313,essv5141814,essv5008348,essv5087589,essv5014664,essv5034424,essv5109243,essv5048667,essv5036690,essv5135345,essv5012382,essv5062806,essv5155924,essv5060331,essv5151855,essv5104059,essv5045864,essv5054643,essv5018275,essv5084672,essv5147428,essv5073049,essv5145089,essv5101688,essv5098364,essv5035770,essv5023805,essv5101000,essv5135521,essv5093204,essv5005321,essv5098050,essv5049849,essv5126502,essv5033216,essv5023040,essv5022159,essv5052249,essv5015369,essv5010094,essv5160164,essv5042902,essv5008315,essv5108397,essv5028871,essv5133631,essv5054771,essv5098177,essv5044420,essv5054290,essv5110571,essv5125704,essv5134937,essv5045478,essv5152336,essv5132395,essv5065131,essv5142544,essv5004241,essv5019301,essv5008488,essv5140950,essv5156848,essv5018247,essv5077254 M 1184 0 80 CSMD1 NA12889,NA18485,NA18487,NA18510,NA18511,NA18611,NA18861,NA18868,NA18869,NA18913,NA18917,NA18930,NA19035,NA19038,NA19147,NA19148,NA19159,NA19178,NA19180,NA19182,NA19183,NA19184,NA19186,NA19200,NA19203,NA19214,NA19215,NA19238,NA19239,NA19308,NA19310,NA19346,NA19373,NA19374,NA19379,NA19382,NA19385,NA19404,NA19430,NA19439,NA19457,NA19462,NA19467,NA19625,NA19700,NA19701,NA19702,NA19708,NA19712,NA20322,NA20333,NA20363,NA20364,NA21316,NA21318,NA21333,NA21363,NA21367,NA21379,NA21415,NA21417,NA21424,NA21425,NA21435,NA21436,NA21479,NA21573,NA21574,NA21577,NA21596,NA21619,NA21632,NA21634,NA21635,NA21647,NA21648,NA21678,NA21689,NA21738,NA21768 nsv470172 8 3987467 3996224 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546612 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00913 dgv858n27 8 3987468 3990969 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465370,nsv465367,nsv465369,nsv465366,nsv465365,nsv465368 M 1557 0 6 CSMD1 HGDP00450,HGDP00463,HGDP00464,HGDP00478,HGDP01081,HGDP01202 nsv818581 8 3987468 3990969 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416847,nssv1416848,nssv1418291,nssv1416755 M 112 0 4 CSMD1 NA19092,NA19159,NA19238,NA19239 nsv438018 8 3987468 3992429 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469634 S 269 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA19007 dgv859n27 8 3987468 3995365 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465373,nsv465371 M 1557 0 2 CSMD1 HGDP00943,HGDP01283 nsv514468 8 3987547 3991465 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627928 S 1414 0 0 CSMD1 nsv442357 8 3989600 3991699 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CSMD1 nsv889934 8 4006870 4033097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590080 S 6533 0 1 CSMD1 IS38457 nsv818582 8 4013913 4020594 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415739,nssv1416565,nssv1415750 M 112 0 3 CSMD1 NA19140,NA19142,NA19171 nsv442084 8 4013916 4019232 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CSMD1 esv2424295 8 4013967 4017214 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254382 S 1 0 1 CSMD1 NA18507 esv2135315 8 4014589 4016864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4817487 S 1 0 1 CSMD1 NA18507 esv22235 8 4014857 4016642 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16526 S 451 0 1 CSMD1 NA18858 dgv7637n71 8 4017934 4038118 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889938,nsv889935,nsv889937 M 6533 0 4 CSMD1 IS31041,IS31546,IS31602,IS35271 esv2591750 8 4019177 4020125 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380985 S 1 1 0 CSMD1 NA18507 nsv889936 8 4020594 4033097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598010 S 6533 0 1 CSMD1 IS41094 nsv889939 8 4020594 4706056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523835 S 6533 0 1 CSMD1 SP54223 nsv523605 8 4028764 4095458 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699399 S 2026 0 1 CSMD1 nsv818583 8 4030154 4034142 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417886 S 112 0 1 CSMD1 NA18853 nsv889940 8 4030154 4042481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550389 S 6533 1 0 CSMD1 MS18431 nsv824497 8 4031535 4033427 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433908 S 31 0 1 CSMD1 NA18592 nsv889941 8 4036005 4047084 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515092 S 6533 0 1 CSMD1 SP56120 esv22770 8 4036855 4039399 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14880 S 451 0 1 CSMD1 NA19108 nsv438019 8 4039867 4040487 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469635 S 269 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA19007 esv2422512 8 4040046 4114650 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161403 S 181 0 1 CSMD1 ND03938 esv2012564 8 4067101 4067525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4975923 S 1 0 1 CSMD1 NA18507 nsv6055 8 4074526 4120563 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5052 S 9 0 1 CSMD1 NA19129 nsv889942 8 4084548 4112474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550390 S 6533 1 0 CSMD1 MS18431 dgv7638n71 8 4101864 4118898 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889943,nsv889944 M 6533 0 3 CSMD1 IS37248,MS17642,MS23670 nsv889945 8 4101864 4131096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537084 S 6533 0 1 CSMD1 MS13095 esv2635862 8 4102992 4103664 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338149 S 1 1 0 CSMD1 NA18507 esv1008691 8 4107943 4114589 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564356 S 3 0 1 CSMD1 HuRef nsv512025 8 4109787 4112483 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624573 S 1 0 1 CSMD1 1 dgv1168n67 8 4110248 4112335 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824500,nsv824499,nsv824501 M 31 0 30 CSMD1 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820514 8 4110248 4112335 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420737 S 1 0 1 CSMD1 NA10851 nsv819774 8 4110274 4112325 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419374 S 2 1 0 CSMD1 AK1 esv26084 8 4110308 4112335 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20064,esv21398 M 451 27 0 CSMD1 NA06985,NA07037,NA07045,NA11995,NA12004,NA12006,NA12287,NA12414,NA12749,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv522080 8 4112508 4116166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694854 S 2026 0 1 CSMD1 nsv524875 8 4116166 4118096 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700880 S 2026 1 0 CSMD1 nsv437037 8 4124065 4139318 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466918 S 60 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA12865 nsv438020 8 4150121 4158194 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469636 S 269 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA19007 esv34054 8 4152613 4438281 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CSMD1 nsv824502 8 4153677 4154165 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424332 S 31 0 1 CSMD1 NA18582 nsv465374 8 4157992 4166894 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541176 S 1557 0 1 CSMD1 NINDS_132 nsv889946 8 4172635 4179614 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559197 S 6533 1 0 CSMD1 MS23770 nsv438021 8 4173158 4183588 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469637 S 269 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA19007 nsv465375 8 4188867 4238692 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541177 S 1557 0 1 CSMD1 NINDS_117 nsv889947 8 4197548 4211544 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507291 S 6533 0 1 CSMD1 SP54517 nsv519066 8 4200591 4241045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696538 S 2026 0 1 CSMD1 esv2567044 8 4208891 4210389 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329741 S 1 0 1 CSMD1 NA18507 esv1927553 8 4209278 4210021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4848235 S 1 0 1 CSMD1 NA18507 esv4860 8 4209391 4209867 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27301 S 1 0 1 Single Asian sample YH CSMD1 YH esv8079 8 4209455 4209811 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30520 S 1 0 1 CSMD1 SJK nsv396623 8 4209458 4209797 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415201 M 24 CSMD1 esv997809 8 4209463 4209802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572136 S 3 0 1 CSMD1 HuRef esv1201960 8 4209472 4209812 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4152228 S 2 0 1 CSMD1 HuRef esv2752255 8 4214384 4315624 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990041,essv6984918,essv6984917 M 771 0 1 CSMD1 SPC_193 nsv524196 8 4221299 4227988 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700079 S 2026 0 1 CSMD1 nsv889948 8 4227988 4248764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598940 S 6533 0 1 CSMD1 IS40867 essv15651 8 4230863 4755808 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA18912 nsv889949 8 4234311 4289625 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559198 S 6533 1 0 CSMD1 MS23770 nsv465376 8 4245499 4259989 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541178 S 1557 0 1 CSMD1 NINDS_81 nsv521522 8 4245603 4249934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698140 S 2026 0 1 CSMD1 dgv7639n71 8 4270026 4308064 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889952,nsv889951,nsv889950,nsv889953 M 6533 0 5 CSMD1 IS34482,IS35973,IS36320,IS36396,IS38469 nsv525809 8 4282853 4344933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701993 S 2026 0 1 CSMD1 nsv522960 8 4285284 4309862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698629 S 2026 0 1 CSMD1 esv34276 8 4290322 4338060 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979995,essv6988287 M 771 0 1 CSMD1 NA18912 nsv523545 8 4290806 4323090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699323 S 2026 0 1 CSMD1 nsv465377 8 4293028 4307750 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541179 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00057 dgv7640n71 8 4293028 4312692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889954,nsv889955 M 6533 0 5 CSMD1 IS33136,IS35127,IS37064,IS39326,MS21677 nsv398214 8 4295266 4301915 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416792 M 24 CSMD1 nsv519564 8 4307750 4308064 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696923 S 2026 0 1 CSMD1 dgv7641n71 8 4307750 4360592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889957,nsv889956 M 6533 0 3 CSMD1 IS37892,IS38994,SP57779 nsv465379 8 4308758 4439537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541180 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01172 nsv465380 8 4312692 4344933 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541181 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01378 nsv519316 8 4312692 4344933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694323 S 2026 0 1 CSMD1 nsv521320 8 4321294 4322026 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697927 S 2026 0 1 CSMD1 esv5420 8 4330850 4331286 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27861 S 1 0 1 Single Asian sample YH CSMD1 YH esv2055468 8 4330868 4331352 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4658992 S 1 0 1 CSMD1 NA18507 dgv240n6 8 4331053 4331203 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396927,nsv397037 M 24 CSMD1 nsv889958 8 4337391 4401471 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550391 S 6533 1 0 CSMD1 MS18431 nsv889959 8 4352789 4378986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575669 S 6533 0 1 CSMD1 IS33795 esv270542 8 4362194 4367617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518757 S 157 1 0 Samples from several populations that are part of the HapMap project. CSMD1 NA12045 dgv441n21 8 4365120 4402479 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518795,nsv527679 M 2026 0 2 CSMD1 nsv518401 8 4373478 4384009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695831 S 2026 0 1 CSMD1 esv2246817 8 4376887 4377257 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590782 S 1 0 1 CSMD1 NA18507 nsv889960 8 4383093 4476960 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565108 S 6533 0 1 CSMD1 IS30365 nsv465382 8 4387607 4400690 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541182 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00730 nsv465384 8 4400690 4499543 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541184 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00531 nsv889961 8 4427231 4443202 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550392 S 6533 1 0 CSMD1 MS18431 nsv528058 8 4432582 4453450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704592 S 2026 0 1 CSMD1 esv26184 8 4433493 4437639 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21348,esv16677,esv17648 M 451 5 0 CSMD1 NA11894,NA11931,NA12414,NA12489,NA19240 nsv465385 8 4434467 4452509 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541185 S 1557 0 1 CSMD1 NINDS_228 nsv437589 8 4436543 4453450 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467470 S 60 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA18515 esv987675 8 4436704 4437312 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586325 S 3 1 0 CSMD1 HuRef esv272684 8 4440282 4440367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581456 S 7 1 0 Samples from several populations that are part of the HapMap project. CSMD1 NA12878 esv1316146 8 4440301 4440301 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3670351 S 2 1 0 CSMD1 HuRef nsv889962 8 4440444 4468075 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600673 S 6533 0 1 CSMD1 IS41909 esv2422279 8 4446054 4629092 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161301 S 181 0 1 CSMD1 ND00700 nsv470173 8 4451575 4464937 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546615,nssv546614,nssv546613 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00875,HGDP01060,HGDP01061 nsv465386 8 4454742 4664069 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541186 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00407 nsv470174 8 4455581 4464937 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546616 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01219 nsv465387 8 4458155 4468617 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541187 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01304 nsv517334 8 4460541 4476960 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668982,nssv683063,nssv681630,nssv697897,nssv666172,nssv672503,nssv693525,nssv683217,nssv651758,nssv683114 M 2026 0 10 CSMD1 nsv465388 8 4463376 4472656 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541188 S 1557 0 1 CSMD1 1782681114_A dgv860n27 8 4468794 4475454 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465390,nsv465389 M 1557 0 2 CSMD1 1788485381_A,HGDP00136 esv34055 8 4474300 4732763 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CSMD1 nsv824503 8 4482467 4482906 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427816 S 31 0 1 CSMD1 NA18947 nsv831214 8 4485535 4666883 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446835 S 95 1 0 CSMD1 dgv7642n71 8 4488686 4501484 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889964,nsv889963 M 6533 0 2 CSMD1 IS32322,IS38122 nsv527421 8 4496111 4501484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703859 S 2026 0 1 CSMD1 nsv516820 8 4498078 4501484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702084,nssv656423,nssv671161,nssv704195,nssv679105,nssv655578,nssv676950,nssv685766 M 2026 0 8 CSMD1 dgv7643n71 8 4524950 4654062 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889965,nsv889966 M 6533 0 2 CSMD1 IS41105,SP53964 nsv824504 8 4546609 4547410 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425093 S 31 0 1 CSMD1 AK2 nsv465392 8 4551485 4561939 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541191 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP01232 nsv524149 8 4551485 4647993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700028 S 2026 0 1 CSMD1 nsv516719 8 4553929 4613968 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702244,nssv669417,nssv665254,nssv689085,nssv653408,nssv691444,nssv673427,nssv679260,nssv691613 M 2026 3 6 CSMD1 nsv831216 8 4553962 4715523 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446836 S 95 1 0 CSMD1 nsv889967 8 4560250 4573785 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600045 S 6533 0 1 CSMD1 IS41832 nsv889968 8 4560727 4570814 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549449 S 6533 1 0 CSMD1 MS18240 nsv438022 8 4576576 4586136 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469638 S 269 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA19007 esv2474620 8 4578429 4579804 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263292 S 1 0 1 CSMD1 NA18507 nsv818584 8 4587857 4589795 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416872,nssv1416455,nssv1416861,nssv1416454 M 112 2 2 CSMD1 NA10857,NA12043,NA18516,NA18517 nsv819566 8 4589327 4591645 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419418 S 2 1 0 CSMD1 AK1 essv12700 8 4596112 4755808 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA18914 essv11627 8 4596112 4890346 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA19154 dgv2181e1 8 4597504 4707779 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8689,essv13505 M 271 0 0 CSMD1 NA18912,NA18914 nsv437592 8 4597753 4706329 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467473 S 60 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA18914 nsv465393 8 4597753 4764703 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541192 S 1557 0 1 CSMD1 NINDS_169 nsv442086 8 4598305 4697836 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CSMD1 dgv243e55 8 4605186 4706329 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34237,esv34896 M 771 0 2 CSMD1 NA18912,NA18914 nsv438023 8 4619513 4691949 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469639,nssv469640 M 269 0 2 Samples from several populations that are part of the HapMap project. CSMD1 NA18912,NA18914 nsv465396 8 4625061 4631280 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541195 S 1557 0 1 CSMD1 1780854337_A nsv889969 8 4634542 4645818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597983 S 6533 0 1 CSMD1 IS41314 dgv7644n71 8 4641802 4669277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889971,nsv889972,nsv889970 M 6533 0 3 CSMD1 IS30967,IS31369,SP57266 nsv522399 8 4644880 4646155 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695179 S 2026 0 1 CSMD1 nsv889973 8 4644880 4650306 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519773 S 6533 1 0 CSMD1 SP50544 nsv465397 8 4646730 4649068 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541196 S 1557 0 1 CSMD1 NINDS_133 nsv516545 8 4646730 4649068 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669046,nssv682632 M 2026 0 2 CSMD1 essv19320 8 4654062 4688714 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA12872 nsv465398 8 4669277 4673362 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541197 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00771 nsv465399 8 4677982 4688306 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541198 S 1557 0 1 CSMD1 NINDS_104 nsv465400 8 4680707 4687419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541199 S 1557 0 1 CSMD1 NINDS_125 esv2264521 8 4681739 4682177 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915851 S 1 0 1 CSMD1 NA18507 dgv7645n71 8 4685038 4736360 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv889975,nsv889974 M 6533 0 2 CSMD1 MS18375,SP57226 nsv437593 8 4691949 4749173 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467474 S 60 0 1 Samples from several populations that are part of the HapMap project. CSMD1 NA19161 dgv2182e1 8 4696921 4754112 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9477,essv8267,essv8063 M 271 0 0 CSMD1 NA19153,NA19154,NA19161 nsv470175 8 4706056 4743217 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546617 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD1 HGDP00992 nsv818585 8 4706056 4743217 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416757,nssv1416756 M 112 0 2 CSMD1 NA19160,NA19161 nsv515524 8 4706056 4744792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682008,nssv663823,nssv655491,nssv692339,nssv682547,nssv693202,nssv677549,nssv692041,nssv688948,nssv666011,nssv674884,nssv677164 M 2026 0 12 CSMD1 essv13967 8 4706329 4742185 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CSMD1 NA19160 nsv442087 8 4706329 4742189 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CSMD1 nsv514469 8 4706390 4741940 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627929 S 1414 0 0 CSMD1 nsv438024 8 4708927 4717662 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469643,nssv469642 M 269 0 2 Samples from several populations that are part of the HapMap project. CSMD1 NA19160,NA19161 nsv465401 8 4716667 4736963 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541200 S 1557 0 1 CSMD1 NINDS_106 nsv889976 8 4737674 4811743 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501843 S 6533 0 1 CSMD1 SP50776 nsv397789 8 4765925 4765925 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416367 M 24 CSMD1 esv25483 8 4785770 4787703 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14249 S 451 2 0 CSMD1 NA18523,NA19129 nsv889977 8 4789846 4807585 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550393,nssv1532674,nssv1535575 M 6533 1 2 CSMD1 MS10802,MS12266,MS18431 nsv523028 8 4797243 4797340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698708 S 2026 0 1 CSMD1 nsv522042 8 4797243 4798506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694812 S 2026 0 1 CSMD1 nsv524085 8 4799844 4803438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699954 S 2026 1 0 CSMD1 nsv507436 8 4811610 4817610 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621900 S 4 1 0 CSMD1 NA10860 esv268393 8 4817619 4817832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502857,essv2508380,essv2501188,essv2509073,essv2501307,essv2499718,essv2503915 M 157 7 0 Samples from several populations that are part of the HapMap project. CSMD1 NA07037,NA12156,NA12749,NA18516,NA18522,NA19093,NA19225 nsv889978 8 4840605 5447574 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541673 S 6533 1 0 "" MS15427 esv3629 8 4859493 4866464 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26070 S 1 0 1 Single Asian sample YH "" YH nsv889979 8 4902983 4932122 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550394 S 6533 1 0 "" MS18431 nsv824505 8 4924095 4924671 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436769 S 31 0 1 "" NA18542 nsv889980 8 4927728 5099602 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557280 S 6533 0 1 "" MS22584 nsv512026 8 4928583 4931641 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624574 S 1 0 1 "" 1 nsv397354 8 4928644 4928940 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415932 M 24 "" esv7083 8 4928649 4928927 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29524 S 1 0 1 "" SJK esv24954 8 4940449 4950296 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20492 S 451 0 1 "" NA12776 nsv889981 8 4956822 5013928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598402 S 6533 0 1 "" IS41263 esv2493538 8 4967199 4968810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223844 S 1 0 1 "" NA18507 esv25387 8 4967545 4968519 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16298 S 451 0 6 "" NA11931,NA12006,NA18858,NA19099,NA19129,NA19147 esv2115378 8 4967600 4968552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644768 S 1 0 1 "" NA18507 nsv824506 8 4988178 4988947 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438262 S 31 1 0 "" NA18951 nsv523969 8 4988315 4989886 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699821 S 2026 0 1 "" nsv831217 8 4994857 5197501 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446837 S 95 0 1 "" nsv525020 8 5058678 5060702 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701059 S 2026 0 1 "" nsv470176 8 5058678 5106972 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546618 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00625 nsv465403 8 5063717 5103498 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541201 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00625 nsv438025 8 5065307 5076194 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469644 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv516401 8 5094050 5095977 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668072,nssv689779,nssv685573,nssv679605 M 2026 0 4 "" dgv7646n71 8 5106972 5144771 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv889984,nsv889983,nsv889982 M 6533 3 0 "" IS36777,IS36911,IS38148 nsv507437 8 5107577 5113577 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617758 S 4 1 0 "" CHM esv24533 8 5137801 5149011 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16492 S 451 4 0 "" NA18517,NA18523,NA19114,NA19240 nsv889985 8 5138865 5181456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534012 S 6533 0 1 "" MS11389 nsv889986 8 5153744 5194938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550395 S 6533 1 0 "" MS18431 nsv519292 8 5156294 5159862 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696772 S 2026 0 1 "" nsv889987 8 5156796 5172997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513604 S 6533 0 1 "" SP55804 nsv889988 8 5158203 5181456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515814 S 6533 0 1 "" SP56289 nsv889989 8 5161141 5199676 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505051 S 6533 0 1 "" SP53041 nsv824507 8 5168864 5169401 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430694,nssv1427407,nssv1441178,nssv1438264 M 31 0 4 "" AK16,NA18951,NA18968,NA18969 nsv526888 8 5172303 5173455 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703246 S 2026 1 0 "" esv1976956 8 5228716 5229093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4535674 S 1 0 1 "" NA18507 esv3460 8 5228959 5229467 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25901 S 1 0 1 Single Asian sample YH "" YH esv1774558 8 5229130 5229241 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054841 S 2 0 1 "" HuRef nsv889990 8 5230346 5251734 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599880 S 6533 1 0 "" IS41804 nsv889991 8 5290497 5500656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508031 S 6533 0 1 "" SP54580 nsv520806 8 5312389 5316899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692340,nssv675654 M 2026 0 2 "" nsv889992 8 5316899 5498709 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578317 S 6533 1 0 "" IS34756 nsv824508 8 5323662 5324181 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423532 S 31 0 1 "" NA18999 nsv520454 8 5331434 5687429 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697430 S 2026 0 1 "" nsv438027 8 5340694 5350447 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469645 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv889993 8 5377984 5392553 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517283 S 6533 0 1 "" SP57243 esv2422392 8 5394807 5761353 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161279 S 181 0 1 "" ND01676 nsv519050 8 5404426 5407105 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696521 S 2026 0 1 "" nsv465404 8 5413758 5430979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541202 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01053 nsv889994 8 5417709 5462128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539714 S 6533 0 1 "" MS14469 nsv510124 8 5426429 5432429 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618279 S 4 0 1 "" CHM nsv889995 8 5440861 5643532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500043 S 6533 0 1 "" SP50107 dgv861n27 8 5448246 5690873 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465407,nsv465405,nsv465408 M 1557 3 0 "" HGDP00302,HGDP00330,HGDP00333 nsv470178 8 5449982 5687429 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546620,nssv546622,nssv546619 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00302,HGDP00330,HGDP00333 esv26410 8 5462845 5463935 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15651 S 451 0 1 "" NA19225 nsv831218 8 5464898 5627723 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446838 S 95 1 0 "" esv2422369 8 5473011 6112336 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161366 S 181 0 1 "" ND03713 nsv819409 8 5484720 5486825 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419386 S 2 0 1 "" AK1 esv270665 8 5493658 5493979 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576019,essv2525939,essv2544371,essv2520357,essv2529266,essv2565387,essv2564097,essv2530613,essv2553086,essv2573955,essv2522437,essv2536058,essv2548820 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11830,NA11918,NA12414,NA12716,NA12749,NA12812,NA12828,NA12873,NA18542,NA18951,NA18960 nsv510125 8 5504981 5510981 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618280 S 4 0 1 "" CHM esv6991 8 5507795 5507881 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29432 S 1 1 0 "" SJK esv1056027 8 5507912 5507912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907261 S 2 1 0 "" HuRef nsv889996 8 5509557 5814540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578318 S 6533 1 0 "" IS34756 nsv889997 8 5522257 5540439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550396 S 6533 1 0 "" MS18431 nsv889998 8 5532498 5614397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561136 S 6533 0 1 "" MS24865 nsv465409 8 5553852 5814540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541207 S 1557 0 1 "" NINDS_84 nsv889999 8 5556868 5568776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518148 S 6533 0 1 "" SP57469 essv23159 8 5561105 5594564 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10831 nsv437038 8 5563446 5594564 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466919 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10859 nsv890000 8 5569582 5591903 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581523 S 6533 1 0 "" IS35608 essv23280 8 5571263 5591735 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07345 nsv465410 8 5573594 5591903 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541208 S 1557 0 1 "" 1780854235_A dgv7647n71 8 5579321 5594564 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890008,nsv890001,nsv890006,nsv890007,nsv890005,nsv890002 M 6533 0 61 "" IS40086,IS40130,MS10991,MS11552,MS20039,MS21201,SP50032,SP50043,SP50521,SP50535,SP50877,SP50977,SP50989,SP51082,SP51254,SP51413,SP51427,SP51432,SP51480,SP52080,SP52122,SP52409,SP52432,SP52761,SP52951,SP53425,SP53473,SP53883,SP54367,SP54373,SP54393,SP54510,SP54532,SP54625,SP54747,SP54875,SP55026,SP55056,SP55131,SP55174,SP55265,SP55507,SP55655,SP55684,SP55717,SP55843,SP55883,SP55914,SP55915,SP56196,SP56890,SP56971,SP57009,SP57027,SP57173,SP57324,SP57328,SP57355,SP57577,SP57651,SP80913 nsv517052 8 5579321 5595071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677206,nssv675752,nssv671456,nssv660445,nssv668709,nssv664541,nssv688057,nssv661951,nssv671761,nssv672580,nssv688118,nssv693480,nssv669418,nssv667867,nssv688413,nssv689655,nssv693321,nssv691175,nssv652299,nssv681818,nssv671838,nssv671034,nssv690318,nssv681437,nssv687386,nssv659169,nssv665302,nssv668499,nssv665189,nssv659886,nssv690471,nssv667885,nssv654941,nssv685152,nssv666935,nssv684961,nssv672254,nssv655724,nssv654395,nssv659730,nssv661732,nssv670330,nssv655678,nssv698863,nssv671214,nssv678425,nssv656316,nssv654513,nssv692828,nssv653970,nssv654533,nssv671903,nssv658746,nssv665109,nssv675519,nssv665740,nssv680608,nssv653417,nssv686694,nssv660424,nssv680591,nssv670640,nssv688380,nssv683370,nssv692588,nssv694027,nssv690380,nssv657868,nssv673459,nssv689161,nssv676627,nssv663842,nssv667511,nssv667646,nssv666116,nssv675484,nssv683064,nssv658448,nssv688757,nssv685934,nssv680220,nssv681707,nssv687570,nssv672722,nssv676134,nssv689996,nssv670019,nssv684483,nssv653553,nssv690878,nssv662114,nssv680568,nssv658862,nssv686013,nssv668117,nssv673062,nssv690650,nssv653694,nssv667207,nssv688694,nssv675615,nssv655640,nssv651923,nssv688249,nssv691786,nssv682779,nssv683096,nssv687064,nssv684812,nssv669733,nssv655620,nssv657648,nssv670444,nssv671678,nssv689107,nssv682997,nssv687376,nssv678682,nssv691636,nssv657227,nssv663871,nssv688078,nssv652992,nssv663553,nssv692460,nssv676723,nssv663789,nssv668368,nssv682392,nssv667190,nssv692304,nssv682337,nssv688854,nssv679367,nssv674667,nssv673937,nssv668780,nssv655461,nssv673172,nssv663979,nssv652020,nssv684556,nssv685802,nssv683330,nssv689740,nssv688433,nssv662443,nssv664477,nssv693361,nssv678365,nssv691360,nssv676790,nssv672605,nssv690638,nssv675010,nssv668088,nssv661814,nssv683986,nssv656853,nssv679457,nssv680199,nssv673118,nssv671081,nssv666269,nssv685234,nssv686907,nssv680543,nssv679965,nssv653757,nssv690965,nssv692681,nssv666385,nssv656646,nssv654434,nssv675077,nssv663932,nssv661261,nssv657908,nssv662896 M 2026 0 179 "" nsv890003 8 5580751 5604398 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542899,nssv1564930 M 6533 0 2 "" IS30319,MS15940 nsv890004 8 5580751 5627644 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575455 S 6533 0 1 "" IS33747 dgv2183e1 8 5581441 5595762 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1058,essv1679,essv2724,essv25145,essv3315,essv6857,essv3504,essv3579,essv7245,essv4533,essv23763,essv6435,essv3641,essv18565 M 271 0 0 "" NA10851,NA11839,NA11994,NA18558,NA18566,NA18592,NA18635,NA18944,NA18948,NA18966,NA18975,NA18987,NA18992,NA18999 nsv820246 8 5582626 5594178 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418612 S 2 1 0 "" AK1 nsv821010 8 5582652 5594792 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420738 S 1 0 1 "" NA10851 nsv824510 8 5582652 5594792 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423533,nssv1433930,nssv1428415,nssv1435968 M 31 0 4 "" AK10,NA18566,NA18592,NA18999 esv27723 8 5582797 5593145 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15689 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv33313 8 5583136 5591731 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96951 S 51 0 1 "" 21817 dgv862n27 8 5583199 5591903 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465415,nsv465416,nsv465413,nsv465420,nsv465412,nsv465421,nsv465422,nsv465414,nsv465425,nsv465424,nsv465411,nsv465418,nsv465419,nsv465423 M 1557 0 14 "" 1780854210_A,1780854545_A,1780862299_A,1780862415_A,1780862432_A,1782681080_A,HGDP00070,HGDP00096,HGDP00433,HGDP00587,HGDP00684,HGDP00735,HGDP01065,HGDP01401 nsv818586 8 5583199 5591903 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416251,nssv1417640,nssv1418080,nssv1417189,nssv1416249,nssv1415970,nssv1418082,nssv1417623,nssv1417365,nssv1417681,nssv1415969 M 112 0 11 "" NA10851,NA10859,NA11882,NA12056,NA12740,NA12751,NA18558,NA18944,NA18987,NA18992,NA18999 esv2422011 8 5583199 5592495 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5130341,essv5138206,essv5066258,essv5094171,essv5128970,essv5019367,essv5150186,essv5149775,essv5068936,essv5151678,essv5026750,essv5034654,essv5072009,essv5010449,essv5112791,essv5059090,essv5014699,essv5117391,essv5100212,essv5061721,essv5141898,essv5134832,essv5115228,essv5093838,essv5084624,essv5084010,essv5131051,essv5062669,essv5021530,essv5083086,essv5061375,essv5013974,essv5136677,essv5013663,essv5051971,essv5080582,essv5101896,essv5034885,essv5049166,essv5056824,essv5092003,essv5051992,essv5009392,essv5092835,essv5093041,essv5118186,essv5062761,essv5091929,essv5123548,essv5019871,essv5044614,essv5063888,essv5077178,essv5029637,essv5139401,essv5043074,essv5153272,essv5141524,essv5024688,essv5155934,essv5127779,essv5111112,essv5036144,essv5154925,essv5002703,essv5032642,essv5038156,essv5066456,essv5144888,essv5131940,essv5096322,essv5132743,essv5052312,essv5020315,essv5039531,essv5124627,essv5140269,essv5041188,essv5127817,essv5010820,essv5086727,essv5016568,essv5003421,essv5097713,essv5152128,essv5038522,essv5047903,essv5112659,essv5113580,essv5054631,essv5040711,essv5092162,essv5064078,essv5052615,essv5146277,essv5078456,essv5072678,essv5053608,essv5078288,essv5004307,essv5077869,essv5077027,essv5074364,essv5142303,essv5037659,essv5068911,essv5044033,essv5008891,essv5063974,essv5141468,essv5068915,essv5025999,essv5017239,essv5119281,essv5053653,essv5133150,essv5129068,essv5128672,essv5029300 M 1184 0 119 "" NA06986,NA06997,NA07345,NA10831,NA10837,NA10843,NA10845,NA10859,NA11832,NA11839,NA11882,NA11919,NA11930,NA11931,NA11994,NA12045,NA12056,NA12155,NA12273,NA12347,NA12386,NA12400,NA12740,NA12751,NA12777,NA12827,NA12843,NA17969,NA17980,NA17981,NA17999,NA18114,NA18140,NA18147,NA18150,NA18154,NA18158,NA18162,NA18524,NA18543,NA18558,NA18566,NA18573,NA18592,NA18613,NA18618,NA18619,NA18626,NA18630,NA18635,NA18641,NA18689,NA18747,NA18944,NA18948,NA18954,NA18966,NA18975,NA18987,NA18999,NA19067,NA19077,NA19079,NA19651,NA19653,NA19658,NA19659,NA19661,NA19664,NA19665,NA19684,NA19685,NA19686,NA19761,NA19763,NA20335,NA20515,NA20517,NA20529,NA20530,NA20534,NA20535,NA20538,NA20581,NA20760,NA20775,NA20778,NA20783,NA20786,NA20790,NA20796,NA20807,NA20851,NA20853,NA20861,NA20866,NA20871,NA20877,NA20879,NA20889,NA20894,NA20899,NA21086,NA21098,NA21100,NA21101,NA21103,NA21104,NA21107,NA21108,NA21113,NA21118,NA21123,NA21143,NA21144,NA21519,NA21631,NA21634,NA21636 nsv442386 8 5586134 5591731 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514470 8 5587900 5591094 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627930 S 1414 0 1 "" nsv438028 8 5587999 5590045 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469646,nssv469647 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10859,NA11882 dgv2184e1 8 5588817 5591735 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6111,essv23699,essv5837 M 271 0 0 "" NA12740,NA18524,NA18573 dgv2185e1 8 5588817 5594564 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21612,essv19730,essv24168,essv24328 M 271 0 0 "" NA10859,NA11882,NA12155,NA12751 nsv818587 8 5588859 5591903 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415904 S 112 0 1 "" NA11994 nsv526578 8 5594564 5632103 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702896 S 2026 1 0 "" nsv512939 8 5599251 5599732 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625589 S 1 1 0 "" 1 nsv465426 8 5604398 5616334 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541224 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460 nsv824511 8 5606739 5607177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433941 S 31 0 1 "" NA18592 nsv518159 8 5607458 5611166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695580 S 2026 0 1 "" esv24575 8 5630093 5633237 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15508 S 451 0 3 "" NA06985,NA07045,NA18523 nsv438029 8 5638409 5641012 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469648 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 nsv470179 8 5648084 5733260 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546623 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01269 dgv7648n71 8 5656229 5743019 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890010,nsv890011,nsv890012,nsv890009 M 6533 0 9 "" IS30081,IS36103,IS36158,IS37968,IS38145,IS38266,IS38612,IS39992,MS12017 nsv465429 8 5671912 5707379 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541226 S 1557 0 1 "" NINDS_61 nsv521464 8 5671912 5707379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698075 S 2026 0 1 "" nsv890013 8 5680928 5733260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545615 S 6533 0 1 "" MS16852 dgv7649n71 8 5680928 5903912 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890020,nsv890014 M 6533 0 2 "" IS38382,SP56995 dgv7650n71 8 5707379 5765927 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890016,nsv890015,nsv890017 M 6533 0 8 "" IS34658,IS34779,IS36131,IS41887,MS14268,MS20630,SP53728,SP81409 dgv7651n71 8 5707379 5823079 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890018,nsv890019 M 6533 0 2 "" MS15168,MS22353 nsv512027 8 5715265 5717552 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624575 S 1 0 1 "" 1 esv2866 8 5715392 5716979 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25307 S 1 0 1 Single Asian sample YH "" YH dgv1169n67 8 5715393 5716952 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824512,nsv824513 M 31 0 24 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18972,NA18973,NA18997,NA18999 esv6752 8 5715419 5716765 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29193 S 1 0 1 "" SJK nsv819043 8 5715423 5720143 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419656 S 2 0 1 "" AK1 nsv890021 8 5720655 5747649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513017,nssv1506838,nssv1503888 M 6533 0 3 "" SP52124,SP54408,SP55670 nsv465430 8 5733260 5751358 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541227 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01319 nsv465431 8 5733260 6235652 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541228 S 1557 0 1 "" NINDS_219 esv5431 8 5735509 5735976 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27872 S 1 0 1 Single Asian sample YH "" YH esv5854 8 5735552 5735989 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28295 S 1 0 1 "" SJK esv26364 8 5737792 5752924 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12702,esv18946,esv12977 M 451 10 0 "" NA07045,NA11894,NA11931,NA11993,NA18508,NA18909,NA18916,NA19099,NA19225,NA19240 esv2752258 8 5748550 5794040 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982896,essv6982898,essv6982897,essv6989696 M 771 0 1 "" BEC_608 nsv465432 8 5751214 5814805 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541229 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00397 esv994360 8 5767991 5771228 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564047 S 3 1 0 "" HuRef nsv507438 8 5768268 5774268 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617759,nssv620403,nssv621901,nssv623027 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv890022 8 5771898 5927132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529960 S 6533 0 1 "" MS10141 nsv6056 8 5787859 5833679 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6196 S 9 0 1 "" NA12156 nsv890023 8 5796951 5813503 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545616 S 6533 0 1 "" MS16852 nsv890024 8 5796951 5833988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569501 S 6533 0 1 "" IS31587 nsv521870 8 5805198 5812602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694642 S 2026 0 1 "" nsv890025 8 5805820 6043046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526941 S 6533 0 1 "" SP57986 nsv824514 8 5811173 5812455 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436771 S 31 0 1 "" NA18542 nsv824515 8 5811214 5811903 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428417 S 31 0 1 "" AK10 esv34065 8 5812313 6130460 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv890026 8 5812602 5838207 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550397 S 6533 1 0 "" MS18431 esv33551 8 5813919 5818714 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101571 S 51 0 1 "" 21603 nsv512940 8 5816571 5816838 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625590 S 1 1 0 "" 1 esv269781 8 5816675 5817333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516578 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv890027 8 5818299 5969212 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578319 S 6533 1 0 "" IS34756 nsv528138 8 5819856 5823079 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704683 S 2026 0 1 "" nsv890028 8 5826511 5911074 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524624 S 6533 0 1 "" SP55132 nsv442088 8 5841704 5938256 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv270174 8 5847843 5848135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503270,essv2497273,essv2512956,essv2504503,essv2500076,essv2507593,essv2508412,essv2510074,essv2496074,essv2507567,essv2495128 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18545,NA18547,NA18563,NA18573,NA18576,NA18582,NA18593,NA18603,NA18638,NA18964 nsv523983 8 5851194 5853489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699839 S 2026 0 1 "" dgv7652n71 8 5859802 5917360 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890029,nsv890030 M 6533 2 0 "" MS10401,MS23725 nsv890031 8 5859802 5955774 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544447 S 6533 1 0 "" MS16345 nsv527841 8 5863519 5886581 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704339 S 2026 1 0 "" esv26201 8 5867381 5870179 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12355,esv21183 M 451 0 2 "" NA11993,NA12878 nsv397510 8 5874101 5875528 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416088 M 24 "" nsv890032 8 5876113 6136538 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589053 S 6533 0 1 "" IS38292 nsv831219 8 5905383 6095658 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446840,nssv1446841 M 95 2 0 "" nsv890033 8 5914040 6020139 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536370 S 6533 1 0 "" MS12731 nsv890034 8 5914040 6415276 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563200 S 6533 1 0 ANGPT2,LOC100287015,MCPH1 MS25891 nsv890035 8 5922984 5955774 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590567,nssv1574547,nssv1580398,nssv1561985,nssv1531366,nssv1565158,nssv1593851,nssv1578067 M 6533 1 7 "" IS30369,IS33596,IS34649,IS35294,IS38535,IS39529,MS10401,MS25306 nsv890036 8 5922984 5969117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554447 S 6533 0 1 "" MS20813 nsv890037 8 5927257 6043046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594232 S 6533 0 1 "" IS39721 nsv8270 8 5949893 6008396 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17489,nssv19033,nssv16550 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18853,NA19173 esv2591257 8 5956297 5960376 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222010 S 1 0 1 "" NA18507 esv1040266 8 5958945 5959007 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829025 S 2 0 1 "" HuRef esv1699813 8 5959366 5959366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350523 S 2 1 0 "" HuRef esv1571197 8 5959405 5959405 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067631 S 2 1 0 "" HuRef esv1541361 8 5959760 5959760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4367412 S 2 1 0 "" HuRef nsv397989 8 5960212 5960212 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416567 M 24 "" nsv890038 8 5989878 6003207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518149 S 6533 0 1 "" SP57469 nsv890039 8 6011583 6081814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550593 S 6533 0 1 "" MS18480 nsv890040 8 6018420 6052618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598815 S 6533 0 1 "" IS40819 dgv2186e1 8 6023403 6069687 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv903,essv11472,esv1276 M 271 0 0 "" NA18856 nsv8271 8 6026540 6032874 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15619,nssv15820 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA18572 esv2528613 8 6031993 6032966 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178215 S 1 1 0 "" NA18507 esv273827 8 6032337 6032704 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580390,essv2579879 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv271445 8 6032350 6032677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557977,essv2565817,essv2540709,essv2546457,essv2521353,essv2525986,essv2571056,essv2556474,essv2577207,essv2570609,essv2550635,essv2554034,essv2529182,essv2577769,essv2576412,essv2564283,essv2561773,essv2528352,essv2546650,essv2540017,essv2520788,essv2557269,essv2556820,essv2552622,essv2532430,essv2562690,essv2578533,essv2536953,essv2527227,essv2561566,essv2562910,essv2523574,essv2541387,essv2542956,essv2524693,essv2534740,essv2561241,essv2549399,essv2531224,essv2532554,essv2541586,essv2570191,essv2553292,essv2535682,essv2559399,essv2566959,essv2541935,essv2569068,essv2543613,essv2556241,essv2528079,essv2562198,essv2539271,essv2555470,essv2533545,essv2567184,essv2566492,essv2529904,essv2574005,essv2527535,essv2555846,essv2534370,essv2531606,essv2573706,essv2525814,essv2529548,essv2575622,essv2575318,essv2526328,essv2530393,essv2572681,essv2568765,essv2545129,essv2549676,essv2551601,essv2536105,essv2547854,essv2525144,essv2563170 M 157 79 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07347,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11993,NA11994,NA12043,NA12044,NA12155,NA12287,NA12749,NA12761,NA12814,NA12828,NA12874,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18510,NA18517,NA18522,NA18523,NA18532,NA18537,NA18545,NA18550,NA18555,NA18561,NA18562,NA18564,NA18573,NA18576,NA18592,NA18593,NA18605,NA18608,NA18638,NA18853,NA18856,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18961,NA18964,NA18980,NA19093,NA19099,NA19102,NA19114,NA19141,NA19143,NA19147,NA19172,NA19225,NA19257 esv994925 8 6032366 6032366 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566442 S 3 1 0 "" HuRef esv1592981 8 6032385 6032385 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173559 S 2 1 0 "" HuRef esv272890 8 6033586 6033925 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583390 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1038812 8 6041723 6041723 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775795 S 2 1 0 "" HuRef nsv437594 8 6049216 6076293 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467475 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv2187e1 8 6049479 6069687 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8012,essv9532 M 271 0 0 "" NA19221,NA19223 nsv8272 8 6049956 6057404 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20370 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv818588 8 6050208 6054003 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416359 S 112 0 1 "" NA18856 nsv395982 8 6050290 6050604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414560 M 24 "" esv34898 8 6050900 6055420 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980600,essv6980601 M 771 0 1 "" NA19221 nsv442089 8 6050901 6056171 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438030 8 6052575 6056851 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469650,nssv469649 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19221,NA19223 nsv465433 8 6052951 6071456 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541230 S 1557 0 1 "" 1780854238_A nsv507439 8 6057856 6063856 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621902 S 4 1 0 "" NA10860 esv2752259 8 6060650 6175745 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988562,essv6986221,essv6982634,essv6982635,essv6982633 M 771 1 0 "" BEC_573 nsv518189 8 6066317 6118677 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695611 S 2026 1 0 "" esv2752260 8 6066540 6130460 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983915,essv6989877,essv6983916 M 771 0 1 "" BEC_730 nsv8273 8 6067426 6069048 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18672 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18502 nsv890041 8 6071456 6262371 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536371 S 6533 1 0 LOC100287015,MCPH1 MS12731 nsv465434 8 6078662 6158732 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541231 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01310 nsv890042 8 6085652 6116236 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515297 S 6533 0 1 "" SP56152 nsv890043 8 6085652 6164343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525235 S 6533 0 1 "" SP56377 nsv516468 8 6089446 6102767 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668571,nssv680528,nssv663508 M 2026 0 3 "" nsv824516 8 6090450 6092365 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433762 S 31 1 0 "" NA18526 esv27726 8 6091724 6092467 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20017 S 451 4 0 "" NA11993,NA12004,NA12414,NA12878 dgv2188e1 8 6092385 6147262 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4944,esv912,esv1173 M 271 0 0 "" NA18537 dgv7653n71 8 6094159 6155018 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890044,nsv890046,nsv890045 M 6533 3 0 "" MS10465,MS19039,SP56913 nsv8274 8 6094686 6153100 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16905,nssv17308,nssv15649 M 31 2 1 Samples from several populations that are part of the HapMap project. "" NA18537,NA18572,NA19144 nsv824517 8 6095210 6153040 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439783 S 31 1 0 "" NA18537 nsv522986 8 6101681 6107334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698656 S 2026 0 1 "" nsv524587 8 6101681 6118677 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700546 S 2026 0 1 "" nsv818590 8 6101681 6147126 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417125 S 112 1 0 "" NA18537 nsv7414 8 6103490 6143946 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3614 S 9 0 0 "" NA12878 dgv7654n71 8 6104820 6176200 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890047,nsv890048 M 6533 2 0 "" SP54672,SP55984 nsv465435 8 6106038 6240640 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541232 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01293 nsv438031 8 6108358 6147262 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469651 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv890049 8 6108358 6216689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519558 S 6533 0 1 "" SP81091 nsv442090 8 6109951 6111529 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv437039 8 6111533 6147262 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466920 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10831 nsv527005 8 6116459 6274578 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703380 S 2026 1 0 LOC100287015,MCPH1 esv1006355 8 6137097 6153909 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565566 S 3 0 0 "" HuRef nsv436680 8 6140460 6143822 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466431 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv437040 8 6140685 6147262 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466921 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07019 nsv513681 8 6141550 6143709 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626933 S 1 0 0 "" 1 nsv435964 8 6141586 6142940 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466432 S 2 0 0 "" NA15510 esv2592273 8 6141963 6145505 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291779 S 1 0 0 "" NA18507 esv1116490 8 6142791 6144697 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291615 S 2 0 0 "" HuRef nsv513682 8 6142797 6145997 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626934 S 1 0 0 "" 1 nsv518388 8 6143066 6158732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695818 S 2026 0 1 "" nsv435989 8 6144689 6146629 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466433 S 2 0 0 "" NA15510 esv27925 8 6147215 6147767 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14725 S 451 6 0 "" NA11894,NA18502,NA18508,NA18517,NA19114,NA19225 dgv7655n71 8 6151968 6198989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890051,nsv890050 M 6533 0 2 "" IS36570,IS38094 dgv442n21 8 6155018 6165710 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527627,nsv523817 M 2026 0 2 "" nsv517771 8 6158732 6176200 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653179,nssv669876,nssv679686 M 2026 0 3 "" nsv890052 8 6158732 6250491 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572246 S 6533 0 1 LOC100287015 IS32894 nsv890053 8 6160483 6187853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551191 S 6533 0 1 "" MS18824 essv17381 8 6160762 6184590 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18855 dgv2189e1 8 6160762 6236366 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1289,essv19148,esv990 M 271 0 0 "" NA12812 essv17220 8 6163545 6201630 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18857 nsv818591 8 6164343 6211500 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416077 S 112 0 1 "" NA12812 nsv442091 8 6165713 6187827 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818592 8 6166523 6187853 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416362,nssv1416360 M 112 0 2 "" NA18855,NA18857 nsv890054 8 6171662 6217216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523625 S 6533 0 1 "" SP54118 nsv526765 8 6195497 6235652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703117 S 2026 0 1 "" nsv521871 8 6201691 6211500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694643 S 2026 0 1 "" nsv523757 8 6210533 6211500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699577 S 2026 0 1 "" esv22771 8 6217099 6219484 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17605 S 451 15 0 "" NA07037,NA07045,NA12239,NA12287,NA12414,NA12749,NA12776,NA15510,NA18508,NA18523,NA18858,NA18907,NA19108,NA19147,NA19225 nsv512028 8 6217274 6219186 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624576 S 1 0 1 "" 1 nsv890055 8 6224805 6338660 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520432 S 6533 1 0 LOC100287015,MCPH1 SP51063 nsv524404 8 6250491 6278893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700323 S 2026 0 1 LOC100287015,MCPH1 dgv443n21 8 6266846 6283958 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv528663,nsv523681 M 2026 0 2 MCPH1 dgv444n21 8 6274750 6278932 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517509,nsv526687 M 2026 0 29 MCPH1 nsv6057 8 6298019 6330167 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1712 S 9 1 0 MCPH1 NA18555 nsv890056 8 6301894 6331135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519388 S 6533 0 1 MCPH1 SP81014 nsv890057 8 6304573 6415276 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536372 S 6533 1 0 ANGPT2,MCPH1 MS12731 nsv890058 8 6316918 6354710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550398 S 6533 1 0 ANGPT2,MCPH1 MS18431 esv1010135 8 6322551 6326002 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565348 S 3 1 0 MCPH1 HuRef esv2422383 8 6349797 6769003 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161384 S 181 1 0 AGPAT5,ANGPT2,DEFB1,MCPH1,MIR4659A,MIR4659B,XKR5 ND00672 nsv397733 8 6350217 6350299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416311 M 24 ANGPT2,MCPH1 nsv522043 8 6358884 6361761 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694813 S 2026 0 1 ANGPT2,MCPH1 nsv6058 8 6444435 6461745 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10601 S 9 1 0 MCPH1 NA18956 nsv526417 8 6474857 6481791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702718 S 2026 0 1 MCPH1 nsv521585 8 6478073 6478589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698202 S 2026 0 1 MCPH1 nsv890059 8 6485582 6542023 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594644 S 6533 0 1 MCPH1 IS39966 nsv524670 8 6487952 6527395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700640 S 2026 0 1 MCPH1 nsv831220 8 6515253 6715901 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446843,nssv1446842 M 95 2 0 AGPAT5,DEFB1,MIR4659A,MIR4659B,XKR5 nsv512941 8 6523733 6523969 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625591 S 1 1 0 "" 1 esv271453 8 6530301 6530448 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506722 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19108 nsv6059 8 6538807 6571669 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3615 S 9 1 0 AGPAT5 NA12878 nsv465436 8 6555609 6908814 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541233 S 1557 1 0 AGPAT5,DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFT1P,DEFT1P2,MIR4659A,MIR4659B,XKR5 NINDS_20 esv2546871 8 6574597 6576231 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340766 S 1 0 1 AGPAT5 NA18507 esv2145090 8 6575058 6575761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901798 S 1 0 1 AGPAT5 NA18507 esv4888 8 6575158 6575614 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27329 S 1 0 1 Single Asian sample YH AGPAT5 YH esv2584030 8 6575238 6575558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366219 S 1 0 1 AGPAT5 NA18507 esv992826 8 6575244 6575564 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568778 S 3 0 1 AGPAT5 HuRef esv7258 8 6575250 6575563 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29699 S 1 0 1 AGPAT5 SJK nsv819007 8 6605471 6605739 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419570 S 2 1 0 AGPAT5 AK1 esv27989 8 6625957 6626702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14360 S 451 0 1 "" NA18517 esv2752262 8 6626309 6998485 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988577,essv6982741,essv6982740,essv6982739,essv6982738 M 771 1 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFT1P,DEFT1P2,XKR5 BEC_586 esv2383297 8 6635410 6635955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696380 S 1 0 1 "" NA18507 nsv397975 8 6635591 6635730 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416553 M 24 "" nsv465437 8 6642801 6816495 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541234 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFA10P,DEFA4,DEFA6,DEFB1,XKR5 HGDP00805 nsv396625 8 6643506 6643560 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415203 M 24 "" nsv890060 8 6677686 6704517 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532891 S 6533 0 1 XKR5 MS10925 esv28974 8 6695711 6700585 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14266 S 451 0 3 "" NA12414,NA18858,NA19108 dgv445n21 8 6697215 6702467 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527446,nsv524867 M 2026 0 2 "" nsv890061 8 6701105 6718897 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597506 S 6533 0 1 DEFB1 IS41179 dgv7656n71 8 6704517 6870701 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890063,nsv890062 M 6533 2 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA6,DEFB1,DEFT1P,DEFT1P2 MS12432,MS22619 esv2377605 8 6706344 6706728 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554037 S 1 0 1 "" NA18507 nsv890064 8 6715708 6798969 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564744 S 6533 1 0 DEFA4,DEFA6,DEFB1 IS30292 dgv7657n71 8 6715708 6928066 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890067,nsv890065 M 6533 4 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFT1P,DEFT1P2 IS34510,IS36766,IS40349,IS40538 nsv428194 8 6716525 8212456 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451397,nssv451391,nssv451404,nssv451415,nssv451419,nssv451411,nssv451392,nssv451416,nssv451394,nssv451402,nssv451421,nssv451424,nssv451407,nssv451405,nssv451393,nssv451389,nssv451413,nssv451401,nssv451399,nssv451422,nssv451414,nssv451400,nssv451423,nssv451390,nssv451396 M 62 22 3 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,DEFT1P,DEFT1P2,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G HGDP00449,HGDP00450,HGDP00462,HGDP00467,HGDP00471,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,NA18498,NA19108,NA19113,NA19147,NA19181,NA19189,NA19225,NA19257 nsv528374 8 6718913 6908814 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704961 S 2026 1 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFT1P,DEFT1P2 dgv2190e1 8 6719130 6880128 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2221,essv446,essv10408,essv17546,essv13662,essv16507,essv9243,essv11279,essv11086,essv4306,essv23217,essv7819,essv16350,essv1481,essv19922,essv20044,essv14994,essv2536,essv1611,essv15092,essv2046,essv5095,essv11871,essv165,essv3107 M 271 0 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA6,DEFB1,DEFT1P,DEFT1P2 NA07048,NA12156,NA12762,NA12813,NA18558,NA18577,NA18603,NA18870,NA18942,NA18949,NA18952,NA18960,NA18968,NA18969,NA18980,NA19003,NA19119,NA19128,NA19129,NA19193,NA19204,NA19210,NA19211,NA19221,NA19222 essv14510 8 6719130 7093758 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFT1P,DEFT1P2 NA19202 dgv2191e1 8 6719130 8344153 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2986,esv655,essv4578,esv695 M 271 0 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFB1,DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,DEFT1P,DEFT1P2,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,LOC349196,MIR548I3,SGK223,SPAG11A,SPAG11B,ZNF705G NA18524,NA18981 esv9168 8 6724074 6724298 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31609 S 1 0 0 "" SJK esv992771 8 6727691 6727802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572822 S 3 0 1 "" HuRef esv1487945 8 6727789 6727901 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4025253 S 2 0 1 "" HuRef nsv890066 8 6727818 6772762 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582395 S 6533 1 0 DEFA6 IS35919 nsv516431 8 6732895 6741958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668322,nssv658367 M 2026 0 2 "" nsv831221 8 6741630 6923922 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446845,nssv1446844,nssv1446846,nssv1446847 M 95 4 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFA5,DEFA6,DEFT1P,DEFT1P2 nsv396875 8 6743635 6743755 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415453 M 24 "" esv1963442 8 6743973 6744344 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542850 S 1 0 1 "" NA18507 esv32587 8 6745878 6747393 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98414 S 51 0 1 "" 22352 esv2565671 8 6748133 6748246 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374087 S 1 0 1 "" NA18507 esv32865 8 6761814 6762938 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99102 S 51 0 1 "" 21938 nsv509248 8 6766245 6824281 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623527,nssv619519 M 4 2 0 DEFA1,DEFA10P,DEFA1B,DEFA4,DEFA6 NA10860,NA18994 nsv512029 8 6777101 6778682 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624578 S 1 0 1 "" 1 esv2619290 8 6777535 6779047 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346352 S 1 0 1 "" NA18507 nsv524367 8 6778120 6816495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700279 S 2026 0 1 DEFA10P,DEFA4 esv2174553 8 6778129 6778768 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511262 S 1 0 1 "" NA18507 esv3497 8 6778209 6778715 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25938 S 1 0 1 Single Asian sample YH "" YH esv9417 8 6778231 6778626 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31858 S 1 0 1 "" SJK nsv890068 8 6780991 6875366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582396 S 6533 1 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA4,DEFT1P,DEFT1P2 IS35919 nsv8275 8 6784906 6789083 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16564 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10839 nsv528781 8 6798969 6810195 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705447 S 2026 0 1 "" essv18512 8 6799659 6814575 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. DEFA10P NA12763 nsv6060 8 6801529 6869017 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3616,nssv5053,nssv714,nssv10602,nssv9455,nssv11176,nssv1713,nssv6198 M 9 0 8 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA12156,NA12878,NA15510,NA18517,NA18555,NA18956,NA19129,NA19240 nsv21 8 6802213 6847036 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv21 S 1 0 1 DEFA1,DEFA10P,DEFA1B,DEFT1P,DEFT1P2 NA15510 nsv6061 8 6804531 6821155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5054,nssv713 M 9 2 0 DEFA10P NA19129,NA19240 nsv890069 8 6809027 6928066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537034 S 6533 1 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFA5,DEFT1P,DEFT1P2 MS13093 nsv438032 8 6810705 6811452 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469653,nssv469654 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12801,NA12813 nsv527917 8 6810952 6867213 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704423 S 2026 1 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFT1P,DEFT1P2 nsv525411 8 6811301 6813700 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701535 S 2026 1 0 DEFA10P nsv8276 8 6811881 6814375 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15982,nssv16645 M 31 2 0 Samples from several populations that are part of the HapMap project. DEFA10P NA18942,NA18980 nsv824518 8 6813324 6815283 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438942,nssv1439784,nssv1438266,nssv1421829,nssv1422712,nssv1428420 M 31 0 6 DEFA10P AK10,NA18537,NA18552,NA18951,NA18973,NA18997 esv32907 8 6813487 6816346 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101576,essv100865,essv96886,essv98093,essv99516,essv98461,essv96333 M 51 7 0 DEFA10P 21603,21656,21817,22259,22335,22352,22371 esv21544 8 6813531 6867208 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12342,esv10906 M 451 10 11 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA06985,NA07037,NA11894,NA11995,NA12006,NA12156,NA12239,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18505,NA18517,NA18858,NA18909,NA19099,NA19129,NA19190,NA19225 nsv820476 8 6813531 6867276 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420739 S 1 1 0 DEFA1,DEFA10P,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA10851 nsv8277 8 6813560 6815860 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15850,nssv16935,nssv19253,nssv15251,nssv16906,nssv16397 M 31 0 6 Samples from several populations that are part of the HapMap project. DEFA10P NA12802,NA12872,NA18537,NA18552,NA18563,NA18972 nsv8278 8 6815199 6868714 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16164,nssv15679,nssv20490,nssv17043,nssv17798,nssv15281,nssv19313,nssv20400,nssv19283,nssv16012,nssv16837,nssv19844,nssv19343,nssv16675,nssv16532,nssv20460 M 31 7 5 Samples from several populations that are part of the HapMap project. DEFA1,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA07029,NA07048,NA11830,NA12155,NA12872,NA18517,NA18572,NA18942,NA18972,NA18975,NA18980,NA19221 nsv515096 8 6815835 6866374 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627057 S 1414 0 0 DEFA1,DEFA1B,DEFA3,DEFT1P,DEFT1P2 nsv471499 8 6816001 6853605 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547838,nssv547839,nssv547840 M 3 DEFA1,DEFA1B,DEFT1P,DEFT1P2 nsv437041 8 6820793 6864878 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466922 S 60 0 1 Samples from several populations that are part of the HapMap project. DEFA1,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA10859 nsv435861 8 6826919 6863056 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466434 S 2 0 1 DEFA1,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA15510 nsv6062 8 6827900 6840527 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11177,nssv10603 M 9 2 0 DEFT1P,DEFT1P2 NA15510,NA18956 nsv22 8 6828365 6840527 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv22 S 1 1 0 DEFT1P,DEFT1P2 NA15510 nsv482118 8 6841698 6844122 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558479 S 1 1 0 DEFA1,DEFA1B KB1 nsv6063 8 6844238 6845190 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10604 S 9 1 0 "" NA18956 nsv6064 8 6846814 6879044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1714,nssv3617 M 9 2 0 DEFA1,DEFA1B,DEFA3,DEFT1P,DEFT1P2 NA12878,NA18555 nsv890070 8 6849317 6891919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526402 S 6533 0 1 DEFA1,DEFA1B,DEFA3,DEFT1P,DEFT1P2 SP57540 nsv890071 8 6849317 6928066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564745 S 6533 1 0 DEFA1,DEFA1B,DEFA3,DEFA5,DEFT1P,DEFT1P2 IS30292 nsv482119 8 6860805 6863226 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558480 S 1 1 0 DEFA1,DEFA1B,DEFA3 KB1 nsv465438 8 6867213 6908814 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541235 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFA5 HGDP01035 nsv470180 8 6867213 6994825 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546624 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFA5 HGDP01035 nsv515968 8 6867213 8182850 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688079,nssv675785,nssv655076,nssv690827,nssv675040,nssv699086,nssv678525,nssv694614,nssv698967,nssv689907,nssv665528,nssv693362,nssv676628,nssv687065 M 2026 9 5 DEFA5,DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G nsv821656 8 6871616 8212037 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421211,nssv1421204,nssv1421209,nssv1421205,nssv1421207,nssv1421210,nssv1421208,nssv1421206 M 31 8 0 DEFA5,DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G esv1157246 8 6882333 6882385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289861 S 2 0 1 "" HuRef dgv7658n71 8 6886619 6928066 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890072,nsv890073 M 6533 0 2 DEFA5 SP57201,SP57603 dgv2192e1 8 6890631 8212456 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15948,essv18055,essv17370,essv15434,essv5544,essv14017,essv24375,essv737,essv6663,essv3302,essv23999,essv19447,essv18524,essv12055,essv13412,essv13110,essv21604,essv971,essv7718,essv19491,essv8030,essv21555,essv21994,essv21894,essv10504 M 271 0 0 DEFA5,DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G NA06991,NA06993,NA11840,NA11995,NA12155,NA12707,NA12716,NA12763,NA12864,NA12873,NA18515,NA18517,NA18529,NA18608,NA18633,NA18859,NA18871,NA18972,NA18981,NA19003,NA19143,NA19192,NA19206,NA19222,NA19238 nsv831222 8 6901133 7115746 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446848 S 95 0 1 DEFA5,FAM90A13,FAM90A14,LOC349196 nsv890074 8 6913279 7277604 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533171 S 6533 1 0 DEFB103A,DEFB103B,DEFB109P1B,DEFB4B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196,ZNF705G MS11032 nsv433397 8 6928066 7041357 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463278 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv508495 8 6934573 7162022 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618827,nssv622590 M 4 0 2 DEFB109P1B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 NA10860,NA18994 nsv510977 8 6934573 8059438 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624323,nssv621605 M 4 0 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G NA15510,NA18994 nsv469660 8 6936558 7093758 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649589 M 265 0 7 Samples from several populations that are part of the HapMap project. "" essv14350 8 6936559 7093758 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19194 dgv2193e1 8 6936559 7361701 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7161,essv1578,essv21740 M 271 0 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196,SPAG11B,ZNF705G NA12248,NA18547,NA18997 dgv7659n71 8 6957353 8135489 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890076,nsv890079,nsv890120,nsv890075 M 6533 4 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G IS35127,IS39243,MS25814,SP55842 nsv512030 8 6978234 6983727 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624579 S 1 0 1 "" 1 esv7901 8 6979034 6982880 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30342 S 1 0 1 "" SJK nsv499201 8 6979072 6982820 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586063 S 9 0 1 "" nsv435878 8 6981105 6987335 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466435 S 2 0 1 "" NA15510 esv22450 8 6998231 7003644 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14262 S 451 0 1 "" NA18508 esv21583 8 7005811 7461991 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15178,esv11673,esv16616,esv17497,esv14330,esv21229,esv13434,esv19684,esv14110,esv12561,esv10327,esv11114,esv10286,esv12444,esv17443 M 451 37 12 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,FAM90A7,LOC349196,SPAG11B,ZNF705G NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv509249 8 7005858 7162022 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619520 S 4 1 0 DEFB109P1B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 NA10860 dgv7660n71 8 7027520 7154532 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890077,nsv890081 M 6533 2 0 FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 IS33192,IS41043 nsv890078 8 7027520 7459302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590474 S 6533 1 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,FAM90A7,LOC349196,SPAG11B,ZNF705G IS38515 esv33606 8 7040625 7790962 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101567,essv97474,essv100704,essv97028,essv99056,essv98047,essv99517,essv96264 M 51 2 6 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,LOC349196,SPAG11A,SPAG11B,ZNF705G 21603,21616,21656,21817,21938,22259,22335,22371 nsv831223 8 7041464 7238576 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446865,nssv1446864,nssv1446852,nssv1446849,nssv1446857,nssv1446854,nssv1446855,nssv1446853,nssv1446863,nssv1446856,nssv1446861,nssv1446858,nssv1446859,nssv1446860 M 95 0 14 DEFB109P1B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196,ZNF705G dgv7661n71 8 7048031 7366447 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890080,nsv890083 M 6533 2 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196,SPAG11B,ZNF705G IS30771,SP58241 nsv8279 8 7060897 7076244 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17828,nssv19373,nssv16936,nssv19191,nssv18702 M 31 3 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18552,NA18860,NA18972 nsv890082 8 7061547 7139364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565695 S 6533 1 0 FAM90A13,FAM90A14,FAM90A5,LOC349196 IS30506 nsv6066 8 7084394 7148441 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10605,nssv9742 M 9 0 2 FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 NA18507,NA18956 dgv7662n71 8 7086849 8011290 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890084,nsv890138,nsv890137,nsv890193,nsv890119,nsv890192 M 6533 6 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,LOC100132396,LOC349196,MIR548I3,SPAG11A,SPAG11B,ZNF705G IS31728,MS15218,MS15571,MS17642,MS18620,MS23705 nsv8281 8 7092123 7930429 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16995,nssv19311,nssv15910,nssv20610,nssv18151,nssv18031,nssv16897,nssv17133,nssv17971,nssv17338,nssv19874,nssv17107,nssv19251,nssv17025,nssv17941,nssv17769,nssv15889,nssv18732,nssv15799,nssv17458,nssv16867,nssv18061,nssv17518,nssv17193,nssv16517,nssv17118,nssv17346,nssv16042,nssv17103,nssv16957,nssv19137,nssv17017,nssv16547,nssv16735,nssv17488,nssv15371,nssv16610,nssv17148,nssv15995,nssv17858,nssv16025,nssv18957,nssv17709,nssv16194,nssv19403,nssv16594,nssv19183,nssv16712,nssv17223,nssv19904,nssv17286,nssv16592,nssv17238,nssv20730,nssv17679,nssv15859,nssv17911,nssv17163,nssv19153,nssv19017,nssv16132,nssv18181,nssv17316,nssv17376,nssv15739,nssv18001,nssv16316,nssv16682,nssv16987,nssv15935,nssv17609,nssv17851,nssv15709,nssv20520,nssv16652,nssv17699,nssv17649,nssv16965,nssv19463,nssv15341,nssv18211,nssv20580,nssv16795,nssv19221,nssv17178,nssv16487,nssv16684,nssv19123,nssv17368,nssv20550,nssv17208,nssv16577,nssv19493,nssv19994,nssv16622,nssv16654,nssv16286,nssv15880,nssv17549,nssv17055,nssv17619,nssv19047,nssv16966,nssv19063,nssv19281,nssv15311,nssv20640,nssv19934,nssv16774,nssv16624,nssv17398,nssv16825,nssv15829,nssv16562,nssv20700,nssv17579,nssv17519,nssv20670,nssv16927,nssv19964,nssv18987,nssv17881,nssv19077,nssv17669,nssv17137,nssv16072,nssv16705,nssv16714,nssv15965,nssv16457,nssv17639,nssv17047,nssv16580,nssv20024 M 31 25 15 Samples from several populations that are part of the HapMap project. DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A5,FAM90A7,FAM90A8,FAM90A9,LOC100132396,LOC349196,SPAG11A,SPAG11B,ZNF705G NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv820640 8 7098363 7145917 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420740 S 1 0 1 FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 NA10851 nsv515098 8 7098880 7146244 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627058 S 1414 0 0 FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 esv989271 8 7099123 7145917 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586388 S 3 1 0 FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196 HuRef nsv831224 8 7105087 7258467 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446877,nssv1446888,nssv1446875,nssv1446867,nssv1446882,nssv1446876,nssv1446872,nssv1446878,nssv1446871,nssv1446881,nssv1446879,nssv1446880,nssv1446866,nssv1446870,nssv1446887,nssv1446885,nssv1446874,nssv1446883,nssv1446886,nssv1446869,nssv1446868 M 95 1 20 DEFB109P1B,FAM66B,FAM90A13,FAM90A14,FAM90A20,FAM90A5,LOC349196,ZNF705G nsv831225 8 7138613 7258467 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446891,nssv1446890,nssv1446897,nssv1446892,nssv1446893,nssv1446896,nssv1446889,nssv1446898,nssv1446899,nssv1446894,nssv1446900 M 95 0 11 DEFB109P1B,FAM66B,FAM90A20,ZNF705G nsv890085 8 7142225 7263412 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600449 S 6533 0 1 DEFB109P1B,DEFB4B,FAM66B,FAM90A20,ZNF705G IS41887 dgv7663n71 8 7142225 7459302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890086,nsv890088 M 6533 0 3 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,FAM90A20,FAM90A7,SPAG11B,ZNF705G IS41809,MS13490,MS19771 dgv7664n71 8 7142225 7947780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890092,nsv890087 M 6533 0 2 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A20,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B,ZNF705G IS39250,IS40795 dgv2194e1 8 7156826 7328299 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3212,essv5505,essv15219,essv1777,essv20780,essv22550,essv578,essv13931,essv3155,essv23172,essv7754,essv6304,essv16168,essv14582,essv6174,essv12504,essv24769,essv22934,essv21283,essv7336,essv6000,essv8457,essv4272,essv3485,essv11568,essv4190,essv23334,essv14179,essv4382,essv16249,essv14083,essv15355,essv20176,essv17172,essv17908,essv22383,essv17740,essv14707,essv13520,essv493,essv12370,essv3734,essv13204,essv400 M 271 0 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB106A,DEFB106B,DEFB109P1B,DEFB4B,FAM66B,SPAG11B,ZNF705G NA07348,NA07357,NA10831,NA10855,NA10860,NA11832,NA12003,NA12146,NA12156,NA12750,NA12875,NA18516,NA18526,NA18532,NA18542,NA18570,NA18571,NA18573,NA18603,NA18609,NA18632,NA18854,NA18861,NA18862,NA18952,NA18961,NA18971,NA18974,NA18992,NA18997,NA18998,NA19012,NA19094,NA19100,NA19102,NA19138,NA19140,NA19159,NA19160,NA19161,NA19171,NA19173,NA19202,NA19207 nsv471650 8 7156826 8067760 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550189,nssv549694,nssv548837,nssv550178,nssv550183,nssv549698,nssv548821,nssv548820,nssv548830,nssv548843,nssv549693,nssv548834,nssv550182,nssv550185,nssv550190,nssv548845,nssv548831,nssv549696,nssv548838,nssv548841,nssv549705,nssv549702,nssv549700,nssv550177,nssv548839,nssv548844,nssv548842,nssv548822,nssv548835,nssv549695,nssv550184,nssv548828,nssv548823,nssv550179,nssv548846,nssv548832,nssv548836,nssv550186,nssv550187,nssv549703,nssv548827,nssv549697,nssv550180,nssv550181,nssv549699,nssv548833,nssv549701,nssv548824,nssv548840,nssv550188,nssv548819,nssv548829,nssv548826,nssv548825,nssv549704 M 48 12 18 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,MIR548I3,SPAG11A,SPAG11B,ZNF705G JK1051,JK1058,JK1061,NA10469,NA10470,NA10471,NA10472,NA10492,NA10493,NA10495,NA10496,NA10967,NA10969,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15725,NA15726,NA15727,NA15729,NA15732,NA16688,NA16689,NA17014,NA17017,P86GA dgv2195e1 8 7156826 8212456 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16658,essv13777,essv8885,essv1677,essv10439,essv24912,essv17530,essv2502,essv16542,essv10039,essv7590,essv18666,essv9879,essv5916,essv4449,essv11387,essv9760,essv41,essv22161,essv14419,essv5330,essv9603,essv15052,essv10527,essv1885,essv5064,essv5168,essv21794,essv7031,essv8723,essv6756,essv16580,essv23783,essv20970,essv22086,essv22860,essv19246,essv10677,essv8364,essv13025,essv9117,essv8149,essv13398,essv15665,essv24014,essv10384,essv21856,essv1634,essv19014,essv24138,essv4672,essv11900,essv1003,essv11202,essv3091,essv11116 M 271 0 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,MIR548I3,SPAG11A,SPAG11B,ZNF705G NA06994,NA10838,NA10847,NA10857,NA11839,NA12005,NA12154,NA12234,NA12239,NA12760,NA12762,NA12763,NA12801,NA12873,NA18502,NA18515,NA18545,NA18550,NA18552,NA18562,NA18563,NA18564,NA18576,NA18612,NA18622,NA18855,NA18858,NA18859,NA18860,NA18863,NA18872,NA18912,NA18942,NA18964,NA18969,NA18976,NA18991,NA18992,NA19003,NA19092,NA19099,NA19127,NA19129,NA19141,NA19142,NA19145,NA19153,NA19171,NA19193,NA19201,NA19204,NA19206,NA19210,NA19211,NA19222,NA19240 nsv515099 8 7158020 7164899 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627059 S 1414 0 0 DEFB109P1B,FAM66B dgv7665n71 8 7163356 7235238 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890089,nsv890093 M 6533 2 0 DEFB109P1B,FAM66B,ZNF705G SP51260,SP54680 dgv7666n71 8 7163356 7381443 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890097,nsv890122,nsv890104,nsv890140,nsv890090,nsv890124,nsv890123,nsv890107,nsv890105,nsv890131,nsv890102,nsv890103 M 6533 25 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,SPAG11B,ZNF705G IS32808,IS34025,IS35982,IS36536,IS38582,IS38972,IS40169,MS13241,MS20563,MS24272,MS24839,MS24970,SP50025,SP50058,SP50700,SP51134,SP52627,SP53449,SP54798,SP55984,SP56086,SP56870,SP58249,SP81127,SP81189 dgv7667n71 8 7163356 7459302 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890091,nsv890142,nsv890133,nsv890108 M 6533 26 10 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4B,FAM66B,FAM90A7,SPAG11B,ZNF705G IS30480,IS30515,IS33726,IS35509,IS36789,IS37488,IS37848,IS38047,IS39026,IS39637,IS39745,IS41305,IS41824,MS16347,MS16447,MS16821,MS17529,MS17852,MS18307,MS19553,MS21841,MS23105,MS23237,MS23811,MS24714,MS24762,MS24837,MS25338,SP50742,SP52329,SP55369,SP57181,SP58182,SP58205,SP58355,SP81213 nsv821142 8 7175044 7188041 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420741 S 1 0 1 FAM66B NA10851 esv1000362 8 7175521 7188307 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586204 S 3 1 0 FAM66B HuRef dgv7668n71 8 7176768 7459302 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890094,nsv890109,nsv890098,nsv890125 M 6533 7 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM66B,FAM90A7,SPAG11B,ZNF705G IS35294,MS10778,MS14679,MS20247,SP50107,SP50832,SP80986 dgv7669n71 8 7176768 7840086 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890127,nsv890113,nsv890111,nsv890112,nsv890130,nsv890128,nsv890136,nsv890146,nsv890115,nsv890095,nsv890117,nsv890139,nsv890096,nsv890148,nsv890100,nsv890129,nsv890126,nsv890144,nsv890145,nsv890134,nsv890114 M 6533 33 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,DEFB4B,FAM66B,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B,ZNF705G IS30197,IS30331,IS30883,IS31194,IS35867,IS38030,IS38162,IS38235,IS39494,IS41224,MS10843,MS12947,MS13131,MS13538,MS17501,MS18436,MS19008,MS22863,MS23258,MS24623,SP50102,SP50756,SP52925,SP54645,SP55655,SP55671,SP55763,SP56084,SP56289,SP56350,SP80914,SP80932,SP81010 dgv7670n71 8 7182766 7852189 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890151,nsv890158,nsv890214,nsv890159,nsv890099,nsv890174,nsv890147,nsv890156,nsv890213,nsv890171,nsv890190,nsv890176,nsv890191,nsv890180,nsv890185,nsv890188,nsv890187,nsv890196,nsv890157,nsv890150,nsv890200,nsv890236,nsv890189 M 6533 0 31 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B,ZNF705G IS30147,IS33857,IS34779,IS34896,IS37778,IS39453,IS40234,IS40618,IS40739,MS12432,MS13292,MS13358,MS14984,MS16959,MS17097,MS17306,MS18788,MS19303,MS19777,MS19891,MS25436,MS25699,SP51261,SP52569,SP52731,SP53859,SP55456,SP55952,SP56023,SP56710,SP57589 dgv7671n71 8 7184351 7265029 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890101,nsv890121 M 6533 4 2 DEFB4B,FAM66B,ZNF705G SP51115,SP51140,SP54401,SP54636,SP54720,SP54789 dgv7672n71 8 7184351 7381443 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890160,nsv890141,nsv890132,nsv890106 M 6533 15 9 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM66B,SPAG11B,ZNF705G IS30308,IS35189,IS35287,IS35354,IS37609,IS38265,IS38490,IS38621,IS39525,IS40677,IS40907,MS14010,MS15777,MS17902,MS24073,MS24900,MS25394,SP50725,SP54107,SP54935,SP55750,SP57254,SP57485,SP81131 nsv890110 8 7184351 7575048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572871,nssv1548175,nssv1590150,nssv1551450 M 6533 4 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM66B,FAM90A7,SPAG11B,ZNF705G IS33188,IS38463,MS17723,MS18886 dgv7673n71 8 7184351 7852189 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890116,nsv890149,nsv890118,nsv890135,nsv890169,nsv890173,nsv890177,nsv890178,nsv890179,nsv890175 M 6533 17 19 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,DEFB4B,FAM66B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B,ZNF705G IS30035,IS30198,IS30508,IS30589,IS31617,IS33178,IS33551,IS34803,IS35877,IS36383,IS38065,IS38129,IS38400,IS38704,IS38849,IS39254,IS41168,IS41782,IS41848,IS41871,MS10203,MS10361,MS10698,MS13257,MS14353,MS18217,MS24010,MS24329,MS24865,MS25172,SP52889,SP53776,SP53994,SP54123,SP55353,SP56780 esv996398 8 7199070 7430417 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586758 S 3 1 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM66B,FAM90A7,SPAG11B,ZNF705G HuRef nsv438033 8 7201387 7206953 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469667,nssv469664,nssv469655,nssv469661,nssv469660,nssv469656,nssv469659,nssv469662,nssv469666,nssv469665,nssv469657,nssv469658 M 269 0 12 Samples from several populations that are part of the HapMap project. ZNF705G NA06994,NA07029,NA18862,NA18863,NA18871,NA18872,NA19138,NA19139,NA19140,NA19142,NA19239,NA19240 dgv138n17 8 7202856 7210635 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437595,nsv437596 M 60 0 2 ZNF705G NA19139,NA19142 essv14023 8 7209495 7222992 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18862 dgv7674n71 8 7213470 7575048 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890143,nsv890164 M 6533 11 7 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM90A7,SPAG11B IS30241,IS33757,IS34262,IS35236,IS36879,IS37353,IS38202,IS39320,IS40954,MS10120,MS10301,MS10872,MS19301,MS20702,MS21973,MS23628,SP52430,SP55597 esv2752265 8 7222992 8183341 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984041,essv6987484,essv6988746,essv6984042 M 771 1 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,DEFB4B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,MIR548I3,SPAG11A,SPAG11B BEC_758 nsv824519 8 7226701 7363855 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431436,nssv1422713 M 31 0 2 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,SPAG11B AK18,NA18552 nsv824521 8 7226901 7363855 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436772,nssv1441179,nssv1434516,nssv1425881,nssv1427598,nssv1421832 M 31 6 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,SPAG11B AK4,AK8,NA18542,NA18570,NA18969,NA18997 nsv515100 8 7228937 7390592 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627060 S 1414 0 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,SPAG11B dgv31n14 8 7230125 7381443 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433241,nsv433242,nsv433240 M 9 0 3 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,SPAG11B NA18507,NA18517,NA19240 dgv7675n71 8 7230125 7459302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890194,nsv890152,nsv890162,nsv890203,nsv890195,nsv890197,nsv890199,nsv890198,nsv890154,nsv890163 M 6533 0 27 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM90A7,SPAG11B IS30098,IS32533,IS35670,IS37156,IS37329,IS41869,MS11355,MS15788,MS18333,MS21840,MS24343,SP50029,SP50038,SP50644,SP50927,SP51007,SP52035,SP52195,SP53287,SP54118,SP54510,SP54517,SP55277,SP55279,SP55571,SP80955,SP81399 nsv890153 8 7235238 7381443 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504831 S 6533 0 1 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,SPAG11B SP52772 dgv7676n71 8 7235238 7575048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890182,nsv890155 M 6533 0 2 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM90A7,SPAG11B IS33256,IS40017 nsv442397 8 7237790 7836261 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,DEFB4B,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B nsv469521 8 7238603 7341931 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649554 M 265 8 42 Samples from several populations that are part of the HapMap project. DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,SPAG11B dgv7677n71 8 7242915 7459302 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890161,nsv890181 M 6533 51 61 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM90A7,SPAG11B IS30129,IS30135,IS30278,IS30455,IS30459,IS30516,IS30605,IS31369,IS32777,IS32999,IS33175,IS33559,IS33622,IS33788,IS33888,IS34066,IS34185,IS34821,IS35014,IS35131,IS35165,IS35505,IS35523,IS35803,IS36011,IS36527,IS36981,IS37891,IS37986,IS37999,IS38009,IS38094,IS38170,IS38349,IS38446,IS38596,IS38648,IS38671,IS38979,IS38987,IS39081,IS39499,IS39660,IS39792,IS39888,IS40267,IS40333,IS40680,IS40735,IS40872,IS41292,IS41786,IS41795,MS10291,MS11243,MS11693,MS12286,MS12551,MS12656,MS12868,MS12983,MS13240,MS14323,MS14566,MS14805,MS15576,MS16381,MS16521,MS17373,MS17794,MS17798,MS17906,MS18143,MS18999,MS19276,MS21314,MS21532,MS21925,MS22245,MS23412,MS23583,MS23626,MS23957,MS24003,MS24886,MS25519,MS25853,SP50791,SP50836,SP51065,SP51200,SP52371,SP52800,SP53444,SP54190,SP54286,SP54846,SP55152,SP56938,SP57147,SP57564,SP57585,SP57642,SP58257,SP58389,SP58404,SP58450,SP80917,SP81386,SP81389,SP81488,SP81498 dgv7678n71 8 7242915 7718319 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890229,nsv890166,nsv890233,nsv890165,nsv890183,nsv890210,nsv890209,nsv890220,nsv890217,nsv890219,nsv890231,nsv890232,nsv890238 M 6533 21 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4B,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,SPAG11B IS31118,IS32763,IS35180,IS36438,IS36517,IS39116,IS39881,IS40326,MS13774,MS22789,MS23532,SP50528,SP52428,SP55027,SP55797,SP55852,SP55966,SP56889,SP57779,SP81222,SP81501 dgv7679n71 8 7242915 7869061 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890242,nsv890222,nsv890168,nsv890206,nsv890237,nsv890186,nsv890221,nsv890170,nsv890240,nsv890167,nsv890224,nsv890184,nsv890208,nsv890204,nsv890215,nsv890205,nsv890212,nsv890211,nsv890243,nsv890225,nsv890172,nsv890223,nsv890226,nsv890239,nsv890235,nsv890244,nsv890250,nsv890247,nsv890234,nsv890241,nsv890207 M 6533 50 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,DEFB4B,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B IS31169,IS31481,IS33797,IS35174,IS35422,IS36170,IS36990,IS37098,IS37214,IS38075,IS38391,IS38474,IS38637,IS39788,IS40005,IS40067,IS40582,IS40862,MS12471,MS14978,MS16355,MS17849,MS18894,MS19360,MS19923,MS20062,MS21225,MS24487,MS24808,MS25250,MS25774,MS25968,MS26110,SP50859,SP51140,SP51314,SP51432,SP51450,SP52320,SP54087,SP54317,SP54680,SP54921,SP55132,SP55699,SP56089,SP56936,SP57368,SP57574,SP81352 dgv25n31 8 7275228 7390000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471549,nsv471550,nsv471472,nsv471474,nsv471471 M 3 DEFB103A,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,SPAG11B dgv7680n71 8 7277604 7381443 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890216,nsv890201 M 6533 0 2 DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,SPAG11B SP50649,SP53302 dgv7681n71 8 7277604 7443804 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890202,nsv890227,nsv890218 M 6533 9 0 DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,FAM90A7,SPAG11B SP50532,SP50559,SP51226,SP53044,SP53060,SP54049,SP55807,SP55843,SP56079 esv2752266 8 7278542 8208881 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982530,essv6982529,essv6982528,essv6989642,essv6989643 M 771 0 1 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,FLJ10661,LOC100132396,MIR548I3,SPAG11A,SPAG11B BEC_563 nsv890228 8 7307363 7575048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507666 S 6533 1 0 DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,FAM90A7,SPAG11B SP54693 nsv890230 8 7318603 7443804 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514607,nssv1513522,nssv1511839,nssv1517562,nssv1516948,nssv1505665 M 6533 3 3 DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,FAM90A7 SP53821,SP55125,SP55791,SP56029,SP56987,SP57322 nsv508496 8 7340033 7857571 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618828 S 4 0 1 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B NA10860 nsv499381 8 7342800 7352276 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586064 S 9 0 1 DEFB107A,DEFB107B nsv396555 8 7342808 7352275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415133 M 24 DEFB107A,DEFB107B dgv7682n71 8 7366447 7869061 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890254,nsv890249,nsv890251,nsv890245,nsv890246,nsv890252,nsv890255,nsv890253,nsv890257,nsv890258,nsv890248 M 6533 21 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A7,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B IS31094,IS31096,IS31634,IS33491,IS38516,IS39473,IS41791,MS11022,MS11220,MS12482,MS16337,MS17865,MS17902,MS18540,MS19746,MS23423,MS24265,SP53415,SP54384,SP54587,SP57193 nsv820769 8 7391343 7432042 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420742 S 1 0 1 FAM90A7 NA10851 nsv471457 8 7408721 7427585 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548334,nssv548332,nssv548335 M 3 FAM90A7 nsv6067 8 7427920 7428918 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6199 S 9 1 0 "" NA12156 nsv890256 8 7459302 7840086 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529424,nssv1513398,nssv1581437,nssv1583531 M 6533 3 1 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B IS35572,IS36527,SP55749,SP81536 esv25631 8 7562393 8156973 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15104,esv17458,esv13743,esv14661,esv12142,esv19986,esv10959,esv14804,esv10880,esv15066,esv14489,esv16077,esv20310,esv18040,esv15045,esv12212,esv18535,esv15330,esv12547 M 451 37 13 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,FLJ10661,LOC100132396,MIR548I3,SPAG11A,SPAG11B NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv7683n71 8 7575048 7852189 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890278,nsv890273,nsv890260,nsv890265,nsv890266,nsv890259,nsv890262,nsv890263,nsv890264,nsv890276,nsv890277,nsv890279 M 6533 109 94 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B IS30150,IS30241,IS30398,IS30539,IS30605,IS30775,IS31285,IS31369,IS31373,IS31563,IS32533,IS32777,IS32990,IS32999,IS33256,IS33552,IS33558,IS33622,IS33719,IS33839,IS33864,IS33878,IS33888,IS34066,IS34262,IS34358,IS34440,IS34701,IS34786,IS35100,IS35279,IS35675,IS35717,IS36011,IS36412,IS36789,IS36981,IS37329,IS37621,IS37986,IS37999,IS38009,IS38031,IS38170,IS38219,IS38239,IS38446,IS38591,IS38616,IS38987,IS39205,IS39320,IS39321,IS39660,IS39745,IS39784,IS40017,IS40267,IS40318,IS40333,IS40373,IS40677,IS40954,IS41729,IS41795,IS41869,IS41922,IS41940,MS10283,MS10535,MS10778,MS10867,MS10973,MS11002,MS11355,MS11554,MS11693,MS11715,MS12286,MS12493,MS12506,MS12551,MS12606,MS12614,MS12656,MS13219,MS13441,MS13490,MS14010,MS14250,MS14323,MS14566,MS14679,MS14805,MS15576,MS16153,MS16325,MS16447,MS16493,MS17373,MS17529,MS17798,MS17825,MS17906,MS18143,MS18307,MS18333,MS18392,MS18414,MS18979,MS18999,MS19276,MS19771,MS19842,MS20550,MS20670,MS21192,MS21840,MS22245,MS22580,MS22728,MS22952,MS22970,MS23105,MS23174,MS23626,MS23811,MS24003,MS24343,MS24447,MS24762,MS24968,MS25028,MS25139,MS25305,MS25345,MS25519,MS25801,MS25950,MS26061,SP50025,SP50038,SP50107,SP50555,SP50644,SP50742,SP50791,SP50836,SP50927,SP51007,SP51226,SP51368,SP51493,SP52035,SP52052,SP52095,SP52195,SP52329,SP52572,SP52655,SP52772,SP52800,SP53003,SP53303,SP53449,SP54118,SP54190,SP54286,SP54510,SP54663,SP54846,SP54973,SP55152,SP55277,SP55537,SP55571,SP55663,SP55984,SP56007,SP56029,SP56828,SP56938,SP57022,SP57147,SP57181,SP57485,SP57585,SP57941,SP58132,SP58209,SP58404,SP80917,SP80955,SP81109,SP81131,SP81212,SP81361,SP81386,SP81389,SP81399,SP81412,SP81467,SP81488 dgv7684n71 8 7575048 7854723 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890280,nsv890275,nsv890261,nsv890267 M 6533 0 8 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B IS34185,IS37156,IS37353,IS38979,MS15727,SP50029,SP54517,SP56085 dgv7685n71 8 7575048 7900589 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890268,nsv890269 M 6533 5 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B IS30352,IS31564,IS34658,MS13770,MS20247 nsv890270 8 7575048 7908368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560803 S 6533 0 1 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B MS24714 dgv7686n71 8 7575048 8135489 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890312,nsv890271 M 6533 2 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,FAM66E,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,FLJ10661,LOC100132396,MIR548I3,SPAG11A,SPAG11B IS30667,IS31286 dgv7687n71 8 7575665 7789961 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890272,nsv890274 M 6533 2 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,SPAG11A,SPAG11B SP50081,SP56848 nsv821173 8 7606131 7697025 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420743 S 1 0 1 FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9 NA10851 esv992071 8 7607725 7830341 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586220 S 3 1 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM90A10,FAM90A13,FAM90A14,FAM90A18,FAM90A19,FAM90A8,FAM90A9,LOC100132396,SPAG11A,SPAG11B HuRef nsv6068 8 7636808 7704556 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9456,nssv10606 M 9 0 2 FAM90A10,FAM90A18,FAM90A19,FAM90A9 NA18517,NA18956 nsv6069 8 7661371 7680653 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11180,nssv3623,nssv1716,nssv1715 M 9 3 0 FAM90A10 NA12878,NA15510,NA18555 nsv23 8 7662979 7680653 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv23 S 1 1 0 FAM90A10 NA15510 dgv7688n71 8 7683445 7789961 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890281,nsv890282 M 6533 3 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,SPAG11A,SPAG11B MS15065,SP56793,SP81454 dgv7689n71 8 7683445 7852189 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890286,nsv890284,nsv890291,nsv890288,nsv890285,nsv890283 M 6533 18 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM66E,LOC100132396,SPAG11A,SPAG11B IS30228,IS31576,IS35131,IS35803,IS38246,MS17572,MS20563,MS24021,MS24098,SP50749,SP52081,SP52147,SP52571,SP52713,SP54935,SP56086,SP57137,SP57539 nsv433398 8 7683445 7869061 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463279 S 9 1 0 Samples from several populations that are part of the HapMap project. DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,FAM66E,LOC100132396,SPAG11A,SPAG11B NA12156 dgv7690n71 8 7692470 7840086 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890290,nsv890287,nsv890289 M 6533 7 7 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,LOC100132396,SPAG11A,SPAG11B IS31812,IS35189,IS39888,IS41179,MS16066,MS16793,MS21491,MS21532,MS23237,MS23332,MS24900,SP51145,SP57642,SP81556 dgv7691n71 8 7692470 7947780 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890292,nsv890310,nsv890311 M 6533 3 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB109P1B,DEFB4A,FAM66E,LOC100132396,SPAG11A,SPAG11B IS35726,MS16821,SP55369 dgv26n31 8 7693579 7777000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471548,nsv471473,nsv471470,nsv471469 M 3 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,SPAG11A,SPAG11B dgv1170n67 8 7697025 7824854 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824523,nsv824522 M 31 0 2 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,LOC100132396,SPAG11A,SPAG11B AK18,NA18942 nsv824524 8 7697025 7824995 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441180,nssv1434517,nssv1425882,nssv1427599,nssv1436773,nssv1422714,nssv1426809 M 31 5 2 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB107A,DEFB107B,DEFB4A,LOC100132396,SPAG11A,SPAG11B AK4,AK6,AK8,NA18542,NA18552,NA18570,NA18969 dgv7692n71 8 7718319 7830417 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890294,nsv890293,nsv890297 M 6533 3 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB4A,LOC100132396,SPAG11A,SPAG11B MS16357,SP80986,SP81189 dgv7693n71 8 7718319 7840086 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890302,nsv890306,nsv890295,nsv890298,nsv890304 M 6533 35 11 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB105A,DEFB105B,DEFB106A,DEFB106B,DEFB4A,LOC100132396,SPAG11A,SPAG11B IS31227,IS31587,IS33027,IS33248,IS33691,IS33800,IS34737,IS34750,IS37063,IS37488,IS37753,IS38262,IS38430,IS38501,IS39527,IS39625,IS41243,IS41305,MS10596,MS10709,MS10739,MS11252,MS13721,MS15777,MS15788,MS16039,MS18311,MS18387,MS21020,MS21517,MS22112,MS24373,MS25284,MS25769,MS25890,SP51105,SP52626,SP53585,SP54975,SP55107,SP55513,SP56418,SP56870,SP56889,SP81403,SP81513 dgv7694n71 8 7724796 7840086 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890301,nsv890305,nsv890296,nsv890303 M 6533 0 8 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB4A,LOC100132396,SPAG11A,SPAG11B IS30413,IS40832,MS21925,SP50649,SP53444,SP55279,SP55750,SP57254 dgv7695n71 8 7724796 7882010 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890307,nsv890299,nsv890309,nsv890308,nsv890320 M 6533 12 0 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB4A,FAM66E,LOC100132396,SPAG11A,SPAG11B IS30330,IS34565,IS38575,MS10937,MS11823,MS16036,MS16248,MS18956,MS19246,MS21737,SP51065,SP52430 nsv890300 8 7731195 7792843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517563 S 6533 0 1 DEFB103A,DEFB103B,DEFB104A,DEFB104B,DEFB4A,SPAG11A,SPAG11B SP57322 dgv7696n71 8 7741510 7840086 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890313,nsv890314,nsv890315,nsv890318,nsv890316 M 6533 17 0 DEFB103A,DEFB103B,DEFB4A,LOC100132396,SPAG11A,SPAG11B IS30135,IS31041,IS32365,IS38464,SP50128,SP50916,SP51061,SP52409,SP52431,SP52627,SP54822,SP55174,SP56064,SP56234,SP57078,SP57217,SP81097 nsv471458 8 7742812 7758729 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548337,nssv548336 M 3 SPAG11A,SPAG11B nsv482120 8 7742812 7758729 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558481 S 1 1 0 SPAG11A,SPAG11B KB1 nsv890317 8 7749451 7830417 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582102,nssv1583106,nssv1583916,nssv1591593,nssv1542266 M 6533 3 2 DEFB103A,DEFB103B,DEFB4A,LOC100132396,SPAG11A IS35788,IS36258,IS36722,IS38995,MS15743 dgv7697n71 8 7749451 7852189 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890321,nsv890319 M 6533 3 0 DEFB103A,DEFB103B,DEFB4A,FAM66E,LOC100132396,SPAG11A MS22231,MS24272,SP50653 dgv10n29 8 7767399 7954978 CNV Gain Locke et al 2006 16826518 BAC_aCGH nsv469564,nsv469864 M 265 5 0 DEFB103A,DEFB103B,DEFB109P1B,DEFB4A,FAM66E,LOC100132396 nsv471651 8 7767400 8067760 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550914,nssv549338,nssv549325,nssv550563,nssv549333,nssv549320,nssv549313,nssv550912,nssv549334,nssv551050,nssv550907,nssv551060,nssv550909,nssv550932,nssv550930,nssv549321,nssv551045,nssv549341,nssv551046,nssv551059,nssv550923,nssv550926,nssv549322,nssv549343,nssv549316,nssv549346,nssv550557,nssv549328,nssv550931,nssv550560,nssv549342,nssv550913,nssv550925,nssv550918,nssv551053,nssv549317,nssv550939,nssv550936,nssv551058,nssv551052,nssv550921,nssv550933,nssv550908,nssv549314,nssv550562,nssv551054,nssv550561,nssv550917,nssv550934,nssv550556,nssv549329,nssv551047,nssv550937,nssv550569,nssv551056,nssv549327,nssv550566,nssv549318,nssv549324,nssv549337,nssv549345,nssv549347,nssv550564,nssv550922,nssv551049,nssv549312,nssv550938,nssv550935,nssv551048,nssv550928,nssv549339,nssv549349,nssv551064,nssv551044,nssv550916,nssv551063,nssv549332,nssv550568,nssv549344,nssv550565,nssv550924,nssv550911,nssv550910,nssv550915,nssv550929,nssv549335,nssv549326,nssv549331,nssv551055,nssv549330,nssv550940,nssv551065,nssv550927,nssv551051,nssv550920,nssv550919,nssv549315,nssv549348,nssv549340,nssv550559,nssv549323,nssv551057,nssv550558,nssv551061,nssv549336,nssv550567,nssv551062,nssv549319 M 48 13 29 DEFB103A,DEFB103B,DEFB109P1B,DEFB4A,FAM66E,LOC100132396,MIR548I3 JK1051,JK1058,JK1061,JK1688,NA10469,NA10471,NA10472,NA10473,NA10492,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17059 nsv471459 8 7776324 7777590 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548340,nssv548339,nssv548338 M 3 DEFB103A,DEFB103B nsv471477 8 7789060 7825000 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548383,nssv548384 M 3 DEFB4A,LOC100132396 nsv438034 8 7814659 7824363 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469672,nssv469670,nssv469673,nssv469671,nssv469668,nssv469669 M 269 0 6 Samples from several populations that are part of the HapMap project. LOC100132396 NA10854,NA10863,NA11839,NA12234,NA12801,NA12813 nsv890322 8 7820326 7908368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538119 S 6533 0 1 DEFB109P1B,FAM66E,LOC100132396 MS13490 esv1000987 8 7850231 7874717 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586393 S 3 1 0 FAM66E HuRef nsv821327 8 7862273 7928751 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420744 S 1 0 1 DEFB109P1B,FAM66E NA10851 esv2422039 8 7864777 7903572 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5050573,essv5012254,essv5135593,essv5125320,essv5054356,essv5073764,essv5044497,essv5113971,essv5049965,essv5009602,essv5048753,essv5059092,essv5027094,essv5023841,essv5125762,essv5070367,essv5108294,essv5049361,essv5125020,essv5092520,essv5114399,essv5044582,essv5122454,essv5152073,essv5096082,essv5002982,essv5016115,essv5079770,essv5037253,essv5027692,essv5005206,essv5116289,essv5117557,essv5068100,essv5085555 M 1184 0 35 DEFB109P1B,FAM66E NA11830,NA12716,NA12865,NA12874,NA18157,NA18499,NA18507,NA18912,NA18914,NA19093,NA19122,NA19128,NA19129,NA19146,NA19148,NA19150,NA19151,NA19198,NA19199,NA19238,NA19448,NA19457,NA19713,NA19776,NA19983,NA20289,NA20290,NA20297,NA20300,NA20343,NA20346,NA20872,NA21104,NA21454,NA21573 nsv469790 8 7873150 8024984 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649811 M 265 0 10 Samples from several populations that are part of the HapMap project. DEFB109P1B,FAM66E,MIR548I3 essv20225 8 7873151 8024993 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DEFB109P1B,FAM66E,MIR548I3 NA12144 nsv442400 8 7891705 7903572 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 DEFB109P1B,FAM66E nsv515104 8 7892961 7902716 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627061 S 1414 0 0 FAM66E nsv890323 8 7900589 8048042 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565696 S 6533 1 0 FAM66E,MIR548I3 IS30506 dgv7698n71 8 7900589 8135489 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890325,nsv890324 M 6533 2 0 FAM66E,FLJ10661,MIR548I3 IS30771,IS38515 nsv6070 8 7913216 7920737 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10608,nssv5056 M 9 2 0 "" NA18956,NA19129 nsv469850 8 7917017 8067760 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649871 M 265 25 34 Samples from several populations that are part of the HapMap project. MIR548I3 essv21038 8 7942417 8344153 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FLJ10661,MIR548I3,SGK223 NA06991 nsv8282 8 7950711 7966509 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16996,nssv18792,nssv20054,nssv19523,nssv17888,nssv19341 M 31 3 3 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18517,NA18552,NA18860,NA18972 nsv820854 8 7977484 8016315 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420745 S 1 0 1 MIR548I3 NA10851 nsv821384 8 8016316 8109713 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420746 S 1 1 0 "" NA10851 nsv510126 8 8018484 8024484 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622152 S 4 0 1 "" NA10860 dgv7699n71 8 8073605 8192267 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890328,nsv890326 M 6533 3 0 FLJ10661 IS35802,IS37909,IS41576 nsv8283 8 8079382 8084898 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16055 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10847 nsv890327 8 8102456 8160844 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551027 S 6533 0 1 FLJ10661 MS18742 dgv7700n71 8 8102456 8205823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890329,nsv890330 M 6533 0 5 FLJ10661 MS11451,MS14318,MS20073,MS21124,MS22353 esv34576 8 8106541 8183341 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980256,essv6980258,essv6980257 M 771 1 0 FLJ10661 NA06991 nsv821579 8 8109714 8125302 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420748 S 1 0 1 FLJ10661 NA10851 nsv890331 8 8130650 9008510 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518072 S 6533 0 1 CLDN23,ERI1,FLJ10661,MFHAS1,MIR4660,SGK223 SP57455 dgv863n27 8 8131816 8182850 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465447,nsv465444,nsv465446,nsv465443,nsv465445,nsv465442,nsv465441,nsv465440 M 1557 8 0 FLJ10661 1780862274_A,1782681176_A,1782681555_A,HGDP00512,HGDP01077,HGDP01362,NINDS_152,NINDS_37 nsv470181 8 8135489 8182850 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546625 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ10661 HGDP01362 nsv818593 8 8135489 8182850 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417893,nssv1417882 M 112 2 0 FLJ10661 NA06991,NA06993 nsv521240 8 8146665 8200653 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697863 S 2026 0 1 "" nsv890332 8 8155218 8205823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576812 S 6533 0 1 "" IS34257 nsv8284 8 8191773 8194098 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19167 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 esv274588 8 8238128 8238503 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579356 S 7 1 0 Samples from several populations that are part of the HapMap project. SGK223 NA19239 esv267582 8 8238135 8238450 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506031,essv2513262,essv2501300,essv2510500,essv2501980 M 157 5 0 Samples from several populations that are part of the HapMap project. SGK223 NA18523,NA18907,NA19093,NA19172,NA19239 nsv831227 8 8242248 8404570 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446902,nssv1446904,nssv1446903,nssv1446901 M 95 1 3 SGK223 nsv396756 8 8242880 8242929 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415334 M 24 SGK223 esv33394 8 8267345 8269930 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99459 S 51 0 1 SGK223 22335 esv2335856 8 8282311 8282735 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914924 S 1 0 1 "" NA18507 esv990829 8 8282478 8282553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576385 S 3 0 1 "" HuRef esv1266693 8 8282480 8282556 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309637 S 2 0 1 "" HuRef nsv396240 8 8282481 8282556 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414818 M 24 "" esv33063 8 8284466 8286644 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100740 S 51 1 0 "" 21656 esv2604794 8 8290917 8291877 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192878 S 1 1 0 "" NA18507 nsv465449 8 8300307 8400120 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541245 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00952 nsv6071 8 8306854 8341730 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8463 S 9 0 1 "" NA12156 nsv465451 8 8310453 8348708 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541247 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00547 nsv507440 8 8316537 8322537 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620404,nssv623028 M 4 2 0 "" NA15510,NA18994 nsv8285 8 8322712 8328617 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15940 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv510127 8 8323324 8329324 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618281 S 4 0 1 "" CHM nsv499734 8 8323711 8328241 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586065 S 9 0 1 "" esv24112 8 8323769 8328247 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16354 S 451 0 3 "" NA07037,NA11894,NA12156 nsv514471 8 8323881 8327726 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627931 S 1414 0 1 "" nsv442093 8 8324455 8328763 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33200 8 8324675 8327544 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99104 S 51 0 1 "" 21938 nsv519143 8 8333481 8365511 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696621 S 2026 0 1 "" nsv396608 8 8345579 8345579 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415186 M 24 "" esv1057420 8 8345598 8345598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3606258 S 2 1 0 "" HuRef nsv398400 8 8345735 8345735 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416978 M 24 "" dgv864n27 8 8350420 8488171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465456,nsv465454,nsv465455,nsv465457,nsv465452 M 1557 0 5 "" HGDP00112,HGDP00946,HGDP00967,HGDP01215,HGDP01234 nsv518525 8 8356260 8363163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695968 S 2026 0 1 "" nsv470182 8 8356260 8485839 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546627,nssv546628,nssv546626,nssv546629 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00559,HGDP00946,HGDP00953,HGDP01215 dgv7701n71 8 8365511 8508758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890334,nsv890333 M 6533 0 7 "" IS41243,MS13455,MS14719,MS16898,MS18902,MS21721,MS22454 esv29305 8 8371841 8386065 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12102 S 451 1 0 "" NA12828 dgv2196e1 8 8375229 8448555 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8582,esv996,esv1200 M 271 0 0 "" NA19130 nsv465458 8 8378515 8453220 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541253 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00559 esv2427564 8 8422710 8424525 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5236587 S 1 0 1 "" NA18507 nsv471721 8 8422947 8424304 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646002 M 0.890 95 "" esv2221383 8 8423258 8424538 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664045 S 1 0 1 "" NA18507 nsv824525 8 8423304 8424032 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433964 S 31 0 1 "" NA18592 nsv824526 8 8423525 8424032 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429191 S 31 0 1 "" AK12 nsv890335 8 8431707 8485839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596717 S 6533 0 1 "" IS40622 nsv890336 8 8434086 8537972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523520,nssv1521635 M 6533 0 2 "" SP52500,SP54063 nsv6072 8 8451973 8478066 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8464 S 9 0 1 "" NA12156 nsv890337 8 8555329 8580128 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517026 S 6533 0 1 "" SP57045 nsv517023 8 8610918 8623426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691282,nssv658104,nssv667113,nssv665110,nssv667999,nssv659064,nssv661115,nssv682122,nssv692589,nssv670768,nssv681292,nssv653633,nssv666604,nssv663790,nssv657177 M 2026 0 15 "" nsv819502 8 8619070 8625956 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419796 S 2 1 0 "" AK1 nsv820420 8 8620057 8626982 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420749 S 1 0 1 "" NA10851 nsv818594 8 8620519 8623426 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416253,nssv1416252 M 112 0 2 "" NA10851,NA12056 esv28782 8 8620532 8626781 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17927 S 451 38 0 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv831228 8 8645797 8828200 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446905 S 95 0 1 MFHAS1 nsv890338 8 8707032 8745380 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591333 S 6533 1 0 MFHAS1 IS38688 esv8249 8 8713064 8720844 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30690 S 1 0 1 MFHAS1 SJK esv2534895 8 8727009 8727345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345883 S 1 0 1 MFHAS1 NA18507 dgv2197e1 8 8745049 8785304 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv879,esv1144,essv2736 M 271 0 0 MFHAS1 NA18965 nsv818595 8 8750305 8790094 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417499 S 112 1 0 MFHAS1 NA18965 esv23993 8 8787352 8788827 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12842 S 451 0 1 MFHAS1 NA07045 nsv831229 8 8788933 8963645 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446908,nssv1446907 M 95 1 1 ERI1,MIR4660 nsv526931 8 8802575 8804291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703298 S 2026 0 1 "" esv275541 8 8804291 8828554 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585740 S 1250 0 1 "" esv275140 8 8831379 8834241 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585218 S 1250 0 1 "" nsv824527 8 8891386 8893173 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427600 S 31 1 0 "" AK8 nsv824528 8 8892625 8893173 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422715 S 31 1 0 "" NA18552 esv271121 8 8957498 8957583 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514553,essv2517488,essv2517234 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11918,NA18970 nsv509250 8 8971359 9021352 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623528 S 4 1 0 "" NA18994 nsv518456 8 8976535 8985879 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695892 S 2026 0 1 "" dgv446n21 8 8981717 9019806 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523098,nsv526092 M 2026 0 2 "" nsv507441 8 9009496 9015496 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617760,nssv621903 M 4 2 0 "" CHM,NA10860 nsv397048 8 9022289 9023686 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415626 M 24 "" nsv824529 8 9033549 9034336 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436775 S 31 1 0 PPP1R3B NA18542 nsv436801 8 9035166 9035616 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466438 S 2 1 0 Samples from several populations that are part of the HapMap project. PPP1R3B NA18505 esv270642 8 9050347 9050672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565628,essv2546272,essv2568230,essv2545551,essv2531879,essv2570475,essv2548606,essv2576897,essv2520558,essv2547127,essv2558274,essv2577887,essv2559530,essv2565213,essv2561787,essv2537291,essv2528348,essv2569582,essv2542191,essv2536132,essv2538011,essv2533076,essv2554471 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA11829,NA11881,NA11995,NA12003,NA12006,NA12044,NA12045,NA12154,NA12716,NA12717,NA12750,NA12761,NA12776,NA12812,NA12874,NA12878,NA12891,NA18508,NA18856 esv273243 8 9050348 9050673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581772,essv2582530,essv2584458,essv2583321 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239,NA19240 dgv7702n71 8 9066823 9158808 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890339,nsv890340 M 6533 0 7 "" IS31179,IS31564,IS31765,IS33651,IS34400,IS37960,IS41045 nsv437042 8 9086791 9108383 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466923 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12752 esv2422135 8 9091324 9099936 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5075364,essv5154908,essv5124262,essv5070530,essv5147010,essv5029521,essv5031088,essv5015079,essv5073188,essv5144133,essv5104275,essv5158732,essv5094889,essv5058198,essv5126286,essv5134445,essv5087955,essv5050650 M 1184 0 18 "" NA10839,NA12005,NA12336,NA12343,NA12752,NA12761,NA12873,NA12890,NA18605,NA19684,NA19686,NA19725,NA19727,NA20761,NA20851,NA20854,NA20856,NA20879 dgv2198e1 8 9091324 9108239 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv950,esv1266,essv24029 M 271 0 0 "" NA12873 nsv8286 8 9092364 9100858 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16804 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv516730 8 9093118 9105237 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659182,nssv668369,nssv676459,nssv664074,nssv668781,nssv684123,nssv678564,nssv690748,nssv691041,nssv658796,nssv653419,nssv685528,nssv666490,nssv671562,nssv666685,nssv685610,nssv659045,nssv670831,nssv661129,nssv652300,nssv681661,nssv680569,nssv657193,nssv693588,nssv662551,nssv652993,nssv672581,nssv692415,nssv665061,nssv677182,nssv653170,nssv670925,nssv673460,nssv684496,nssv693866,nssv685451,nssv705523 M 2026 0 37 "" nsv442094 8 9093876 9099936 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514472 8 9093970 9099050 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627932 S 1414 0 1 "" esv271987 8 9097442 9097811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494338,essv2495508,essv2499755,essv2511945,essv2498121 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18916,NA19225,NA19238,NA19240 esv273321 8 9097452 9097696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580785,essv2579760 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1060375 8 9151370 9151430 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807933 S 2 0 1 "" HuRef nsv526262 8 9171208 9188647 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702534 S 2026 0 1 "" nsv526001 8 9202136 9205275 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702227 S 2026 0 1 "" nsv6073 8 9227210 9272151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8465 S 9 0 1 LOC157273 NA12156 nsv890341 8 9230337 9280838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584031 S 6533 0 1 "" IS36787 nsv465459 8 9266173 9279967 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541254 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00783 nsv523921 8 9317221 9319876 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699764 S 2026 0 1 "" nsv518507 8 9327466 9335757 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695948 S 2026 0 1 "" nsv515989 8 9352194 9353217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690709,nssv665601,nssv659515,nssv657855,nssv672038,nssv693753,nssv656717 M 2026 0 7 "" nsv524879 8 9352194 9359190 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700885 S 2026 0 1 "" esv275392 8 9433583 9434748 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586085,essv2585220 M 1250 1 1 "" esv2454645 8 9500522 9501450 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320240 S 1 1 0 TNKS NA18507 esv272585 8 9501045 9501277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580286,essv2580029,essv2580962,essv2579578 M 7 4 0 Samples from several populations that are part of the HapMap project. TNKS NA12891,NA12892,NA19238,NA19240 esv269337 8 9501045 9501386 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541019,essv2542282,essv2536500,essv2571030,essv2545426,essv2548242,essv2550678,essv2535476,essv2558237,essv2520009,essv2564058,essv2528432,essv2547004,essv2532237,essv2562688,essv2549983,essv2558740,essv2536903,essv2561622,essv2562819,essv2553067,essv2541429,essv2542971,essv2540395,essv2524448,essv2519551,essv2566127,essv2531004,essv2532668,essv2567644,essv2570097,essv2535607,essv2572240,essv2559395,essv2568919,essv2527937,essv2562528,essv2578348,essv2567066,essv2557607,essv2555910,essv2522317,essv2526991,essv2575297,essv2526503,essv2560564,essv2524110,essv2574705,essv2545171,essv2560201,essv2549910,essv2571393,essv2574114,essv2548642,essv2563242 M 157 55 0 Samples from several populations that are part of the HapMap project. TNKS NA07037,NA10847,NA11831,NA11919,NA11920,NA11993,NA12003,NA12045,NA12155,NA12249,NA12750,NA12815,NA12828,NA12891,NA12892,NA18505,NA18507,NA18511,NA18516,NA18517,NA18523,NA18532,NA18542,NA18545,NA18550,NA18552,NA18555,NA18566,NA18572,NA18573,NA18576,NA18582,NA18593,NA18608,NA18609,NA18638,NA18861,NA18907,NA18909,NA18940,NA18947,NA18953,NA18956,NA18960,NA19005,NA19102,NA19114,NA19116,NA19129,NA19138,NA19172,NA19190,NA19225,NA19238,NA19240 nsv6074 8 9502327 9537164 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3625 S 9 1 0 TNKS NA12878 nsv437043 8 9531111 9538857 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466924 S 60 0 1 Samples from several populations that are part of the HapMap project. TNKS NA10846 esv995663 8 9532775 9539311 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565084 S 3 0 1 TNKS HuRef esv2509921 8 9534593 9538839 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360610 S 1 0 1 TNKS NA18507 nsv435864 8 9534942 9539723 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466440 S 2 0 1 TNKS NA15510 esv2147282 8 9535044 9538584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4621757 S 1 0 1 TNKS NA18507 nsv824530 8 9535188 9538231 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432980,nssv1427601,nssv1440459,nssv1425883,nssv1437550,nssv1421833,nssv1427842 M 31 0 7 TNKS AK4,AK8,NA18564,NA18947,NA18949,NA18972,NA18997 nsv819378 8 9535213 9538649 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419539 S 2 0 1 TNKS AK1 esv25806 8 9535218 9538345 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16527 S 451 0 14 TNKS NA11931,NA12004,NA12287,NA15510,NA18508,NA18523,NA18858,NA18907,NA18909,NA19099,NA19108,NA19147,NA19190,NA19240 nsv515114 8 9535455 9536952 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627062 S 1414 0 0 TNKS nsv438035 8 9537015 9537654 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469679,nssv469676,nssv469677,nssv469680,nssv469678,nssv469675 M 269 0 6 Samples from several populations that are part of the HapMap project. TNKS NA18558,NA18562,NA18944,NA18949,NA18959,NA18981 nsv6075 8 9641067 9674878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5058 S 9 1 0 TNKS NA19129 esv29852 8 9652387 9653002 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13613 S 451 0 1 TNKS NA18907 nsv509251 8 9664916 9681345 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620902,nssv619521 M 4 2 0 TNKS NA10860,NA15510 nsv512942 8 9666777 9666877 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625592 S 1 1 0 TNKS 1 esv29371 8 9679605 9750217 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16865 S 451 1 0 "" NA19257 esv270714 8 9703046 9703381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575871,essv2546336,essv2521097,essv2526065,essv2544178,essv2521587,essv2550360,essv2544452,essv2520322,essv2547182,essv2558693,essv2564433,essv2577901,essv2559670,essv2565225,essv2530771,essv2562048,essv2537452,essv2528332,essv2546765,essv2557274,essv2552365,essv2550131,essv2539015,essv2523884,essv2534523,essv2567820,essv2570261,essv2542096,essv2562513,essv2533848,essv2527487,essv2531441,essv2543149,essv2576965,essv2572169,essv2529770,essv2538488,essv2530247,essv2571498,essv2545848,essv2574387,essv2533002,essv2554500,essv2547781,essv2563190,essv2558180 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA07347,NA10847,NA10851,NA11830,NA11881,NA11894,NA11918,NA11992,NA12144,NA12234,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12776,NA12812,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18502,NA18511,NA18519,NA18537,NA18561,NA18577,NA18593,NA18856,NA18909,NA18916,NA18952,NA18961,NA18965,NA18970,NA18973,NA19093,NA19108,NA19141,NA19238,NA19239,NA19240 esv273194 8 9703046 9703381 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582254,essv2582738,essv2582906,essv2584111,essv2584662,essv2583588 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv1917560 8 9709359 9709825 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902599 S 1 0 1 "" NA18507 nsv396276 8 9725978 9726028 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414854 M 24 "" esv1580635 8 9726057 9726108 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031859 S 2 0 1 "" HuRef nsv397932 8 9726058 9726108 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416510 M 24 "" nsv520485 8 9755688 9767349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697447 S 2026 0 1 "" nsv526932 8 9782060 9782762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703299 S 2026 0 1 "" esv1361208 8 9787370 9787370 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3620611 S 2 1 0 "" HuRef esv1618949 8 9787388 9787388 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935266 S 2 1 0 "" HuRef esv269347 8 9845281 9845616 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557926,essv2565751,essv2575843,essv2540824,essv2571638,essv2546280,essv2521395,essv2525985,essv2542415,essv2536472,essv2543918,essv2556496,essv2568174,essv2545417,essv2523373,essv2531854,essv2577385,essv2570425,essv2548480,essv2521869,essv2550806,essv2550452,essv2535428,essv2554302,essv2552007,essv2520284,essv2547506,essv2529271,essv2558416,essv2564549,essv2577965,essv2553553,essv2559595,essv2565399,essv2576272,essv2520069,essv2564163,essv2554961,essv2530728,essv2561886,essv2537653,essv2528215,essv2547051,essv2539954,essv2520956,essv2557344,essv2557244,essv2552603,essv2551920,essv2532452,essv2562713,essv2569522,essv2578827,essv2550211,essv2537071,essv2539096,essv2569811,essv2527143,essv2544841,essv2523789,essv2552984,essv2541262,essv2543008,essv2540262,essv2524668,essv2564893,essv2534670,essv2561016,essv2539549,essv2549403,essv2519735,essv2559964,essv2522282,essv2566158,essv2530910,essv2532795,essv2567943,essv2529009,essv2541835,essv2570048,essv2563764,essv2553401,essv2535522,essv2572485,essv2559351,essv2566824,essv2541987,essv2550984,essv2543660,essv2528066,essv2562188,essv2533818,essv2578372,essv2573056,essv2555181,essv2555648,essv2567019,essv2566469,essv2527404,essv2557725,essv2556064,essv2534437,essv2573486,essv2543134,essv2573333,essv2577050,essv2571993,essv2529774,essv2575287,essv2526417,essv2524152,essv2574615,essv2530434,essv2568557,essv2549845,essv2571518,essv2545759,essv2574089,essv2551248,essv2537966,essv2548768,essv2533198,essv2554606,essv2547861,essv2524766,essv2563266 M 157 126 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18945,NA18947,NA18948,NA18952,NA18953,NA18956,NA18959,NA18964,NA18965,NA18969,NA18970,NA18973,NA19093,NA19102,NA19114,NA19129,NA19138,NA19141,NA19147,NA19225,NA19238,NA19239,NA19240,NA19257 esv272908 8 9845281 9845616 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581690,essv2583136,essv2584103,essv2584668,essv2583698 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv890342 8 9901755 9934918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556226,nssv1558592,nssv1559974,nssv1534958 M 6533 0 4 "" MS11858,MS21866,MS23412,MS24245 nsv890343 8 9926139 9970207 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550399 S 6533 1 0 MSRA MS18431 nsv831230 8 9990753 10176760 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446910,nssv1446909 M 95 1 1 MSRA nsv510128 8 9994541 10000541 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624055,nssv618282,nssv621328 M 4 0 3 MSRA CHM,NA15510,NA18994 nsv890344 8 10032925 10098048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540112 S 6533 0 1 MSRA MS14696 nsv831231 8 10038624 10226504 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446911 S 95 1 0 MSRA esv2524854 8 10044616 10045057 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263905 S 1 1 0 MSRA NA18507 esv1116859 8 10044791 10044791 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724619 S 2 1 0 MSRA HuRef esv2016675 8 10078771 10079116 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982166 S 1 0 1 MSRA NA18507 esv3698 8 10078777 10079029 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26139 S 1 0 1 Single Asian sample YH MSRA YH nsv516061 8 10082523 10082861 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658112,nssv665941 M 2026 0 2 MSRA nsv890345 8 10105483 10130638 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599112 S 6533 0 1 MSRA IS41410 nsv890346 8 10112783 10140845 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565065 S 6533 0 1 MSRA IS30350 esv268529 8 10169969 10170128 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510767,essv2509875,essv2498414,essv2505904,essv2507394,essv2506559,essv2499760 M 157 7 0 Samples from several populations that are part of the HapMap project. MSRA NA18501,NA18508,NA18858,NA18861,NA18912,NA19108,NA19225 nsv6078 8 10185168 10220341 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3626 S 9 1 0 MSRA NA12878 nsv890347 8 10190492 10369046 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564266 S 6533 0 1 MSRA IS30196 nsv518309 8 10193435 10197395 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694224 S 2026 0 1 MSRA nsv527326 8 10236958 10357429 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703751 S 2026 1 0 MSRA nsv890348 8 10303122 10327073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558159 S 6533 0 1 MSRA MS23143 nsv890349 8 10331740 10392712 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517269 S 6533 0 1 "" SP57238 nsv890350 8 10342727 10383998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586632 S 6533 0 1 "" IS37889 esv268547 8 10363656 10363998 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514506,essv2516649,essv2519269,essv2518531,essv2516559,essv2518955 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11894,NA12287,NA12814,NA19141 nsv818596 8 10372104 10372191 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416648 S 112 1 0 "" NA19116 nsv465462 8 10455449 10481547 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541256 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00971 esv275278 8 10476446 10482185 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585950 S 1250 0 1 "" nsv890351 8 10477312 10519782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543522 S 6533 0 1 RP1L1 MS16153 nsv890352 8 10498894 10524062 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537085 S 6533 0 1 RP1L1 MS13095 nsv527445 8 10501616 10503892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703886 S 2026 0 1 RP1L1 nsv824532 8 10502257 10503919 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421834 S 31 1 0 RP1L1 NA18997 esv997256 8 10504990 10504990 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567512 S 3 1 0 RP1L1 HuRef esv1658461 8 10504997 10504997 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018822 S 2 1 0 RP1L1 HuRef nsv523113 8 10519782 10523232 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698812 S 2026 0 1 RP1L1 nsv515898 8 10567447 10594817 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677779,nssv665187 M 2026 0 2 C8orf74 nsv527184 8 10567447 10627323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703580 S 2026 0 1 C8orf74,SOX7 nsv398183 8 10569314 10569397 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416761 M 24 C8orf74 esv990685 8 10569334 10569417 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566704 S 3 0 1 C8orf74 HuRef dgv865n27 8 10573236 10605040 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465464,nsv465463 M 1557 0 2 C8orf74 1780854535_A,HGDP00515 nsv519236 8 10594817 10602673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696727 S 2026 0 1 C8orf74 dgv447n21 8 10637664 10729403 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519376,nsv519768 M 2026 2 0 MIR1322,PINX1 nsv831232 8 10643463 10812358 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446913,nssv1446912 M 95 0 2 MIR1322,PINX1,XKR6 nsv522226 8 10666357 10672727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695003 S 2026 0 1 PINX1 esv271941 8 10676856 10676941 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513907 S 157 1 0 Samples from several populations that are part of the HapMap project. PINX1 NA19143 nsv508497 8 10718031 10787665 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622591 S 4 0 1 MIR1322,PINX1 NA18994 nsv515946 8 10726901 10729403 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676363,nssv667040,nssv665403 M 2026 3 0 PINX1 esv2391351 8 10728319 10728815 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4843854 S 1 0 1 PINX1 NA18507 nsv396674 8 10728469 10728594 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415252 M 24 PINX1 esv992953 8 10728508 10728635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584542 S 3 0 1 PINX1 HuRef esv6297 8 10777108 10777181 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28738 S 1 1 0 "" SJK nsv522127 8 10835241 10852925 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694901 S 2026 0 1 XKR6 nsv521721 8 10839512 10873882 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694481 S 2026 0 1 XKR6 dgv448n21 8 10841027 10854283 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518360,nsv519822 M 2026 0 3 XKR6 esv2506669 8 10920305 10921170 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210669 S 1 1 0 XKR6 NA18507 esv25007 8 10921048 10922072 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9761 S 451 6 0 XKR6 NA18523,NA18858,NA18907,NA19108,NA19147,NA19225 esv1926132 8 10928055 10928509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4986730 S 1 0 1 XKR6 NA18507 esv1006630 8 10967134 10967134 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576003 S 3 1 0 XKR6 HuRef esv1732990 8 10967326 10967326 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3782085 S 2 1 0 XKR6 HuRef nsv516033 8 11025685 11032470 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672434,nssv696486,nssv675573,nssv685502,nssv661798,nssv659548,nssv674811,nssv678931,nssv668030,nssv688056,nssv657372,nssv665830,nssv690422 M 2026 0 13 XKR6 esv275517 8 11047283 11053926 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585941,essv2585576 M 1250 1 1 XKR6 nsv519941 8 11054299 11077226 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697138 S 2026 0 1 XKR6 nsv397981 8 11055322 11055831 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416559 M 24 XKR6 esv2147573 8 11073345 11073835 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954355 S 1 0 1 XKR6 NA18507 nsv831233 8 11084264 11271794 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446914 S 95 1 0 C8orf12,MTMR9,SLC35G5,TDH,XKR6 nsv890353 8 11135214 11147913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505165 S 6533 0 1 "" SP53287 esv1591016 8 11136417 11136417 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240867 S 2 1 0 "" HuRef nsv890354 8 11213557 11303541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581308 S 6533 1 0 C8orf12,MTMR9,SLC35G5,TDH IS35565 esv34097 8 11214782 11527303 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 BLK,C8orf12,FAM167A,LINC00208,MTMR9,SLC35G5,TDH dgv7703n71 8 11239564 11260432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890356,nsv890355 M 6533 0 2 TDH SP52566,SP81074 esv273248 8 11262682 11262947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580615,essv2579817 M 7 2 0 Samples from several populations that are part of the HapMap project. TDH NA19238,NA19240 esv269551 8 11262691 11262873 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511898,essv2503015,essv2493728,essv2513324,essv2499040,essv2498904,essv2512164,essv2498007,essv2502199 M 157 9 0 Samples from several populations that are part of the HapMap project. TDH NA18499,NA18507,NA18517,NA18907,NA19114,NA19138,NA19238,NA19240,NA19257 esv33097 8 11271992 11272081 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101534,essv100717,essv96930,essv99006,essv98011 M 51 5 0 C8orf12 21603,21656,21817,21938,22259 esv33920 8 11272218 11284367 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101610,essv97003,essv98019,essv98374,essv96404 M 51 0 5 C8orf12 21603,21817,22259,22352,22371 esv25027 8 11273808 11284541 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13863,esv10439 M 451 0 35 C8orf12 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv470183 8 11274385 11344528 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546630 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf12,FAM167A HGDP01317 nsv465465 8 11282474 11344528 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541259 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf12,FAM167A HGDP01317 esv2645386 8 11282542 11285453 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191008 S 1 0 1 C8orf12 NA18507 dgv178e180 8 11282662 11284635 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990676,esv1003707 M 3 0 1 C8orf12 HuRef dgv56n50 8 11282713 11284978 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511389,nsv512031 M 1 0 1 C8orf12 1 esv2383612 8 11282789 11284800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716477 S 1 0 1 C8orf12 NA18507 dgv1171n67 8 11282912 11284984 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824533,nsv824535,nsv824536,nsv824537 M 31 0 4 C8orf12 AK16,AK4,NA18947,NA18999 nsv824534 8 11282934 11283940 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432981 S 31 0 1 C8orf12 NA18972 dgv179e180 8 11282934 11284525 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994321,esv1010342 M 3 0 1 C8orf12 HuRef nsv398266 8 11282969 11284617 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416844 M 24 C8orf12 nsv522860 8 11291289 11367774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698515 S 2026 0 1 C8orf12,FAM167A nsv509252 8 11314755 11376148 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620903 S 4 1 0 C8orf12,FAM167A NA15510 nsv890357 8 11323556 11367774 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530611 S 6533 0 1 C8orf12,FAM167A MS10311 esv259887 8 11332534 11332845 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397633,essv2397783,essv2396578,essv2394649 M 144 0 0 Samples from several populations that are part of the HapMap project. C8orf12,FAM167A NA18502,NA18505,NA18507,NA18870 nsv824538 8 11350063 11351387 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424334 S 31 0 1 FAM167A NA18582 esv22493 8 11350090 11351987 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13461 S 451 0 1 FAM167A NA19225 esv3628 8 11350713 11351229 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26069 S 1 0 1 Single Asian sample YH FAM167A YH esv1058919 8 11351097 11351097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995078 S 2 1 0 FAM167A HuRef nsv520117 8 11429059 11466556 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697231 S 2026 1 0 BLK dgv866n27 8 11429059 11467894 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465466,nsv465467 M 1557 2 0 BLK HGDP00883,HGDP00889 nsv397436 8 11430244 11438188 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416014 M 24 BLK nsv890358 8 11434265 11486147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546667 S 6533 0 1 BLK,LINC00208 MS17208 nsv523827 8 11445810 11523629 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699658 S 2026 1 0 BLK,LINC00208 nsv436583 8 11527263 11533101 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466441 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2531930 8 11529081 11532810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225881 S 1 0 1 "" NA18507 esv21597 8 11529267 11532938 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12299 S 451 0 10 "" NA18505,NA18517,NA18523,NA18858,NA18907,NA18916,NA19099,NA19129,NA19190,NA19257 esv2393796 8 11529560 11532471 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583647 S 1 0 1 "" NA18507 esv4112 8 11532297 11532802 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26553 S 1 0 1 Single Asian sample YH "" YH esv1138807 8 11532422 11532644 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3876281 S 2 0 1 "" HuRef nsv6079 8 11601566 11610455 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8466 S 9 0 1 GATA4 NA12156 nsv471715 8 11634244 11634783 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv645996 M 0.107 95 GATA4 nsv890359 8 11636979 11654649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530612 S 6533 0 1 GATA4 MS10311 nsv890360 8 11656572 11677400 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590425 S 6533 1 0 NEIL2 IS38508 nsv890361 8 11663217 11792922 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596617 S 6533 1 0 CTSB,FDFT1,NEIL2 IS40577 nsv890362 8 11663217 11808498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588011 S 6533 0 1 CTSB,FDFT1,NEIL2 IS38145 nsv890363 8 11685350 11719234 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531941 S 6533 0 1 FDFT1 MS10698 nsv890364 8 11692205 11708450 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510758 S 6533 0 1 FDFT1 SP54988 nsv890365 8 11703860 11773050 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531822 S 6533 1 0 CTSB,FDFT1 MS10666 nsv890366 8 11703860 11938256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531861 S 6533 1 0 CTSB,DEFB134,DEFB135,DEFB136,FDFT1 MS10682 nsv890367 8 11705562 11830938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580639 S 6533 1 0 CTSB,FDFT1 IS35408 nsv890368 8 11708450 11755937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583836 S 6533 0 1 CTSB,FDFT1 IS36678 nsv890369 8 11708450 11877420 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577802 S 6533 0 1 CTSB,DEFB135,DEFB136,FDFT1 IS34572 nsv525089 8 11728551 11730250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701147 S 2026 0 1 FDFT1 esv34042 8 11735746 11764226 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CTSB nsv516685 8 11736156 12614570 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699244,nssv682075,nssv670182,nssv694438,nssv702607,nssv661211,nssv702962,nssv663225,nssv664884,nssv690582,nssv661799,nssv653353,nssv681564,nssv669415,nssv661505,nssv704213 M 2026 6 10 CTSB,DEFB109P1,DEFB130,DEFB134,DEFB135,DEFB136,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,USP17L2,ZNF705D esv27846 8 11774264 11776180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20853 S 451 0 1 "" NA19129 nsv428195 8 11778967 12611672 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451434,nssv451436,nssv451438,nssv451440,nssv451439,nssv451430,nssv451441,nssv451433,nssv451435,nssv451443 M 62 10 0 DEFB109P1,DEFB130,DEFB134,DEFB135,DEFB136,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,USP17L2,ZNF705D HGDP00449,HGDP00450,HGDP00462,HGDP00471,HGDP00984,HGDP00986,HGDP01088,HGDP01093,NA19113,NA19147 dgv2199e1 8 11778967 12634940 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15252,essv5832,essv4103,essv21590,essv17851,essv19823,essv16391,essv22712,essv11122,essv8564,essv10926,essv16141,essv11403,essv13128,essv9546,essv11291,essv24441,essv13408,essv15705,essv610,essv19892,essv20549,essv12887 M 271 0 0 DEFB109P1,DEFB130,DEFB134,DEFB135,DEFB136,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,LONRF1,MIR3926-1,MIR3926-2,USP17L2,ZNF705D NA10847,NA10857,NA11881,NA11995,NA12155,NA12239,NA12865,NA18502,NA18503,NA18524,NA18529,NA18859,NA18861,NA18863,NA18872,NA18912,NA18947,NA19094,NA19100,NA19172,NA19192,NA19209,NA19211 dgv2200e1 8 11778967 12646342 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3001,essv13756,essv9641,essv14465,esv586,esv531 M 271 0 0 DEFB109P1,DEFB130,DEFB134,DEFB135,DEFB136,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,LONRF1,MIR3926-1,MIR3926-2,USP17L2,ZNF705D NA18981,NA19141,NA19153,NA19201 dgv7704n71 8 11792922 11938256 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890370,nsv890371 M 6533 2 0 DEFB134,DEFB135,DEFB136 MS10666,MS19360 essv15113 8 11819907 12078007 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DEFB130,DEFB134,DEFB135,DEFB136,FAM66D,FAM86B1,LOC100133267,LOC392196,USP17L2,ZNF705D NA19129 esv3862 8 11825759 11930634 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26303 S 1 1 0 Single Asian sample YH DEFB134,DEFB135,DEFB136 YH esv2109329 8 11834244 11834638 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953427 S 1 0 1 "" NA18507 nsv465468 8 11855773 11935618 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541262 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DEFB134,DEFB135,DEFB136 HGDP01351 nsv890372 8 11877480 11988577 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589650 S 6533 1 0 DEFB130,DEFB134,DEFB135,LOC100133267,ZNF705D IS38391 nsv6080 8 11888274 11922905 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv718,nssv1719,nssv3627,nssv5060,nssv6203 M 9 5 0 DEFB134 NA12156,NA12878,NA18555,NA19129,NA19240 esv33396 8 11891058 11891595 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96911 S 51 0 1 DEFB134 21817 dgv27n31 8 11898231 12097364 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis nsv471482,nsv471480,nsv471476,nsv471341 M 3 DEFB130,FAM66D,FAM86B1,LOC100133267,LOC392196,USP17L2,ZNF705D nsv8287 8 11902919 11913153 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19553,nssv17918,nssv17026 M 31 1 2 Samples from several populations that are part of the HapMap project. "" NA12155,NA18552,NA18972 esv988698 8 11912235 11913468 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565097 S 3 1 0 "" HuRef nsv499437 8 11912401 11912520 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586526 S 9 1 0 "" nsv499680 8 11912470 11912520 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586528 S 9 1 0 "" esv1661844 8 11912519 11912519 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862740 S 2 1 0 "" HuRef nsv890373 8 11915116 11988577 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501223 S 6533 0 1 DEFB130,LOC100133267,ZNF705D SP50943 nsv818597 8 11929002 11935618 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415761,nssv1415772 M 112 0 2 "" NA19140,NA19142 dgv2201e1 8 11930637 12040126 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9485,essv11346,essv1990 M 271 0 0 DEFB130,FAM66D,LOC100133267,LOC392196,USP17L2,ZNF705D NA18942,NA19128,NA19154 esv22986 8 11933753 12099266 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15221,esv14566,esv12427,esv18396,esv16469,esv15075,esv17014,esv13265,esv17659 M 451 37 7 DEFB130,FAM66D,FAM86B1,LOC100133267,LOC392196,USP17L2,ZNF705D NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv2626363 8 11936533 12218688 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390937 S 1 0 1 DEFB130,FAM66D,FAM86B1,LOC100133267,LOC392196,USP17L2,ZNF705D NA18507 dgv244e55 8 11941938 12646342 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752197,esv2752196,esv2752198,esv2752199 M 771 4 0 DEFB109P1,DEFB130,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,LONRF1,MIR3926-1,MIR3926-2,USP17L2,ZNF705D BEC_309,BEC_375,BEC_445,BEC_636 nsv890374 8 11967143 12512547 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592658 S 6533 1 0 DEFB109P1,DEFB130,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,USP17L2,ZNF705D IS39243 nsv8288 8 11982232 12571056 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17056,nssv18882,nssv20144,nssv17206,nssv17548,nssv19333,nssv20940,nssv17448,nssv16115,nssv20790,nssv16314,nssv18271,nssv17145,nssv19733,nssv16802,nssv16175,nssv16834,nssv16640,nssv17257,nssv16145,nssv15461,nssv16864,nssv19257,nssv17729,nssv16009,nssv17283,nssv16000,nssv17146,nssv19287,nssv16192,nssv16730,nssv17436,nssv17789,nssv17829,nssv17578,nssv19793,nssv18008,nssv18038,nssv16700,nssv19703,nssv20820,nssv16222,nssv19883,nssv16030,nssv15970,nssv17948,nssv17388,nssv16404,nssv16915,nssv17358,nssv17116,nssv17227,nssv18852,nssv15979,nssv19303,nssv16284,nssv17115,nssv18421,nssv17313,nssv18301,nssv19371,nssv16162,nssv18822,nssv16885,nssv17879,nssv16376,nssv18481,nssv17298,nssv19823,nssv15919,nssv20114,nssv17978,nssv19673,nssv16254,nssv20880,nssv18391,nssv20910,nssv18361,nssv17819,nssv19583,nssv17253,nssv16670,nssv17167,nssv15949,nssv18331,nssv20850,nssv17849,nssv18241,nssv16894,nssv19227,nssv19613,nssv19197,nssv15401,nssv16607,nssv17328,nssv19243,nssv19273,nssv16924,nssv17638,nssv17197,nssv17236,nssv16224,nssv19317,nssv16346,nssv19853,nssv19643,nssv17268,nssv16374,nssv16855,nssv19213,nssv17799,nssv17176,nssv20174,nssv16772,nssv17466,nssv16344,nssv17608 M 31 29 15 Samples from several populations that are part of the HapMap project. DEFB109P1,DEFB130,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,USP17L2,ZNF705D NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv471461 8 11984256 12010434 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548341,nssv548343,nssv548342 M 3 ZNF705D nsv890375 8 11992986 12315934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513053 S 6533 1 0 DEFB109P1,DEFB130,FAM66A,FAM66D,FAM86B1,LOC100133267,LOC392196,USP17L2,ZNF705D SP55671 dgv2203e1 8 12011451 12537556 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18673,essv2553,essv1056,essv22164,essv2951,essv1663,essv1568,essv19057,essv7350,essv3601,essv7977,essv3088,essv11477,essv6215,essv21936,essv5999,essv740,essv4319,essv6427,essv14751,essv14166,essv8263,essv22919,essv3567,essv20858,essv7244,essv6499,essv19473,essv25179,essv10652,essv11365,essv7896,essv24630,essv9896,essv7650,essv23804,essv7639,essv14211,essv13257,essv706,essv11610,essv5627,essv5983,essv8361,essv24020,essv8748,essv15178,essv6110,essv1709,essv20458 M 271 0 0 DEFB109P1,DEFB130,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,USP17L2 NA06994,NA10846,NA10857,NA11829,NA11830,NA11840,NA12056,NA12057,NA12750,NA12760,NA12763,NA12873,NA18504,NA18547,NA18552,NA18563,NA18564,NA18570,NA18571,NA18573,NA18579,NA18592,NA18632,NA18635,NA18636,NA18855,NA18856,NA18858,NA18913,NA18940,NA18968,NA18969,NA18972,NA18974,NA18975,NA18987,NA18992,NA18997,NA19003,NA19092,NA19140,NA19145,NA19153,NA19159,NA19201,NA19207,NA19239,NA19240 dgv2204e1 8 12011451 12632654 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17474,essv25137,essv951,essv11253,essv5588,essv5013,essv22997,essv24133,essv9750,essv18906,essv7052,essv6649,essv19449,essv6460,essv23990,essv5071,essv19544,essv6929,essv23150 M 271 0 0 DEFB109P1,DEFB130,FAM66A,FAM66D,FAM86B1,FAM86B2,FAM90A25P,LOC100133267,LOC100506990,LOC392196,LONRF1,MIR3926-1,MIR3926-2,USP17L2 NA07357,NA10831,NA10847,NA11839,NA11840,NA12716,NA12717,NA12762,NA12864,NA18529,NA18570,NA18571,NA18608,NA18612,NA18637,NA18863,NA18981,NA19204 esv1009029 8 12022939 12035489 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586705 S 3 1 0 FAM66D,LOC392196,USP17L2 HuRef nsv442420 8 12025135 12039385 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM66D,USP17L2 dgv2205e1 8 12025186 12040126 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15438,essv1315,essv6846 M 271 0 0 FAM66D,USP17L2 NA18558,NA18973,NA19206 esv2550155 8 12029589 12035541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339055 S 1 0 1 FAM66D,USP17L2 NA18507 nsv471462 8 12032086 12033678 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548345,nssv548346,nssv548347 M 3 FAM66D,USP17L2 nsv515060 8 12035540 12036432 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627063 S 1414 0 0 FAM66D esv1006711 8 12064764 12072371 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586207 S 3 1 0 "" HuRef nsv890378 8 12089865 12315934 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576116,nssv1596618 M 6533 1 1 DEFB109P1,DEFB130,FAM66A,LOC100133267 IS33878,IS40577 dgv7705n71 8 12089865 12339591 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890377,nsv890379 M 6533 3 0 DEFB109P1,DEFB130,FAM66A,FAM86B2,FAM90A25P,LOC100133267,LOC100506990 IS33552,IS35408,MS15398 nsv821657 8 12090806 12549242 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421212 S 31 0 1 DEFB109P1,DEFB130,FAM66A,FAM86B2,FAM90A25P,LOC100133267,LOC100506990 nsv436590 8 12096947 12339559 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466442 S 2 0 1 Samples from several populations that are part of the HapMap project. DEFB109P1,DEFB130,FAM66A,FAM86B2,FAM90A25P,LOC100133267,LOC100506990 NA18505 esv25198 8 12199406 12597502 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16613,esv16716,esv20471,esv19925,esv20244,esv20414,esv18471,esv10512,esv17812,esv18106,esv17905,esv18357,esv13360,esv13699,esv17714,esv17192,esv16530 M 451 35 12 DEFB109P1,DEFB130,FAM66A,FAM86B2,FAM90A25P,LOC100133267,LOC100506990 NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv831234 8 12199767 12359202 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446915 S 95 0 1 DEFB109P1,DEFB130,FAM66A,FAM86B2,FAM90A25P,LOC100133267,LOC100506990 nsv890380 8 12208978 12315934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581237 S 6533 1 0 DEFB109P1,DEFB130,FAM66A,LOC100133267 IS35545 dgv2207e1 8 12233358 12611672 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18494,essv21069,essv17749,essv12130,essv13825,essv11909 M 271 0 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 NA06991,NA10831,NA12156,NA18502,NA18853,NA19173 nsv469553 8 12242060 12399265 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649664 M 265 0 27 Samples from several populations that are part of the HapMap project. DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 nsv471652 8 12242061 12399265 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549155,nssv549157,nssv549154,nssv549156,nssv549158,nssv549159,nssv549160 M 48 5 2 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 JK1058,JK1061,NA10469,NA10471,NA10492,NA15725,NA16688 nsv890381 8 12249050 12415321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565981 S 6533 1 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 IS30539 dgv7706n71 8 12249050 12527465 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890384,nsv890382,nsv890383,nsv890385,nsv890386 M 6533 5 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 IS30635,IS30771,IS38515,MS25814,SP55842 nsv821220 8 12250510 12286313 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420750 S 1 0 1 FAM66A NA10851 nsv515063 8 12257461 12258570 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627065 S 1414 0 0 "" nsv442421 8 12260380 12286526 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FAM66A nsv824539 8 12264428 12285240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427867 S 31 1 0 FAM66A NA18947 dgv2208e1 8 12264620 12291610 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6413,essv18035,essv24333,essv6543,essv7451,essv13349,essv19028 M 271 0 0 FAM66A NA06993,NA07034,NA11882,NA18500,NA18545,NA18582,NA18624 dgv2209e1 8 12264620 12487533 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19358,essv9971,essv20818,essv2152,essv1310,essv12907,essv20760,essv12040,essv20725,essv21749,essv3934,essv21473,essv6080,essv16622,essv5605,essv8015,essv21493,essv18021,essv1334,essv25060,essv18005,essv1647,essv2751,essv23110,essv1795,essv14945 M 271 0 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 NA06985,NA10830,NA10855,NA10861,NA12003,NA12005,NA12043,NA12146,NA12752,NA12878,NA12892,NA18522,NA18593,NA18621,NA18871,NA18961,NA18965,NA18970,NA18971,NA18973,NA18978,NA18980,NA19116,NA19132,NA19204,NA19208 dgv245e55 8 12264620 12487533 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752200,esv2752203,esv2752204,esv2752205 M 771 4 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 BEC_354,BEC_556,BEC_589,BEC_596 dgv2210e1 8 12264620 12522182 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15975,essv8591,essv21638,essv25056,essv18795 M 271 0 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 NA12761,NA12801,NA12891,NA19130,NA19142 dgv246e55 8 12264620 12630632 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752206,esv2752202,esv2752201 M 771 3 0 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990,LONRF1,MIR3926-1,MIR3926-2 BEC_425,BEC_567,SPC_189 nsv824540 8 12264628 12285240 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433975 S 31 0 1 FAM66A NA18592 dgv1172n67 8 12275677 12285240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824545,nsv824541,nsv824544,nsv824543 M 31 5 0 FAM66A NA18537,NA18582,NA18969,NA18972,NA18999 esv993011 8 12275677 12285240 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587058 S 3 1 0 FAM66A HuRef nsv831235 8 12275678 12452720 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446916,nssv1446918,nssv1446920,nssv1446921,nssv1446919 M 95 0 5 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 nsv515064 8 12275876 12276237 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627066 S 1414 0 0 FAM66A esv32998 8 12275909 12285493 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101511,essv97487,essv100700,essv99087,essv98013,essv99442,essv98494 M 51 4 3 FAM66A 21603,21616,21656,21938,22259,22335,22352 nsv438036 8 12276030 12291924 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469688,nssv469684,nssv469682,nssv469687,nssv469686,nssv469683,nssv469681,nssv469689 M 269 0 4 Samples from several populations that are part of the HapMap project. FAM66A NA06991,NA06993,NA07034,NA07048 esv2276035 8 12277679 12280689 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695907 S 1 0 1 FAM66A NA18507 nsv515065 8 12278336 12283554 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627067 S 1414 0 0 FAM66A dgv140n17 8 12280185 12360133 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437046,nsv437045 M 60 0 2 DEFB109P1,FAM66A,FAM86B2,FAM90A25P,LOC100506990 NA06991,NA07048 nsv511387 8 12281306 12295432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625993 S 1 0 1 DEFB109P1,FAM66A 1 dgv2211e1 8 12284241 12291610 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15939,essv12444,essv2713,essv1001 M 271 0 0 FAM66A NA18515,NA18944,NA18964,NA19152 nsv515066 8 12284723 12285523 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627068 S 1414 0 0 FAM66A esv1005031 8 12314043 12321687 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586588 S 3 1 0 FAM90A25P HuRef nsv890387 8 12315934 12445321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532809,nssv1568481 M 6533 2 0 FAM86B2,FAM90A25P,LOC100506990 IS31286,MS10867 nsv831236 8 12321285 12557354 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446922,nssv1446923,nssv1446924 M 95 0 3 FAM86B2,FAM90A25P,LOC100506990 nsv471463 8 12327497 12338223 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548350,nssv548348,nssv548349 M 3 FAM86B2 nsv482121 8 12327497 12338223 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558482 S 1 1 0 FAM86B2 KB1 nsv831238 8 12348420 12511915 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446927,nssv1446925,nssv1446932,nssv1446930,nssv1446929,nssv1446933,nssv1446931,nssv1446926,nssv1446934 M 95 0 9 LOC100506990 nsv469548 8 12357608 12470366 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649658 M 265 1 2 Samples from several populations that are part of the HapMap project. LOC100506990 nsv499553 8 12379636 12392614 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586066 S 9 0 1 LOC100506990 nsv6081 8 12397410 12414457 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1720 S 9 0 1 LOC100506990 NA18555 nsv6082 8 12421549 12456890 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1721 S 9 0 1 LOC100506990 NA18555 nsv499686 8 12433218 12439886 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586067 S 9 0 1 LOC100506990 dgv2212e1 8 12433487 12646342 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6990,essv25114,essv8495,essv16078,essv10282 M 271 0 0 LOC100506990,LONRF1,MIR3926-1,MIR3926-2 NA10856,NA18501,NA18506,NA18612,NA18854 essv3645 8 12446597 12466379 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100506990 NA18991 dgv2213e1 8 12446597 12537556 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9304,essv11323 M 271 0 0 LOC100506990 NA18852,NA19128 nsv890388 8 12451715 12570457 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555995 S 6533 1 0 LOC100506990 MS21737 dgv2214e1 8 12466379 12575194 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15926,essv13371 M 271 0 0 LOC100506990 NA19159,NA19205 nsv436599 8 12471189 12478359 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466443 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv6083 8 12487468 12522125 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2780 S 9 1 0 "" NA18555 essv10605 8 12517929 12575194 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19211 esv2517134 8 12520368 12537575 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189571 S 1 0 1 "" NA18507 esv2425398 8 12567115 12578628 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251549 S 1 0 1 "" NA18507 esv1646685 8 12573087 12573414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167578 S 2 0 1 "" HuRef nsv438038 8 12590009 12599114 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469691,nssv469690 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18561,NA18621 nsv442096 8 12593598 12597159 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515067 8 12593735 12594279 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627069 S 1414 0 0 "" nsv818598 8 12595527 12614570 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417380 S 112 0 1 "" NA18949 nsv8289 8 12599098 12604716 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16406 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 esv2750483 8 12676052 12677876 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99484 S 51 0 1 LOC340357 22335 esv33493 8 12680729 12688903 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101449 S 51 0 1 LOC340357 21603 nsv442436 8 12693099 12696897 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC340357 esv32567 8 12696881 12696948 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97017 S 51 0 1 LOC340357 21817 nsv524268 8 12748013 12750501 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700166 S 2026 1 0 "" nsv465469 8 12851432 12940151 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541263 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1456 HGDP01172 dgv2215e1 8 12883370 12926648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1267,essv5781,esv1341 M 271 0 0 KIAA1456 NA18540 nsv890389 8 12934748 13092155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527738 S 6533 0 1 DLC1 SP80961 esv271876 8 13000910 13001249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516976,essv2514940,essv2515652,essv2515866 M 157 4 0 Samples from several populations that are part of the HapMap project. DLC1 NA11931,NA12812,NA12815,NA12873 nsv6084 8 13035991 13071333 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv719 S 9 1 0 DLC1 NA19240 esv275220 8 13070705 13078568 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585962,essv2585829 M 1250 1 1 DLC1 nsv890390 8 13100216 13199480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534895 S 6533 0 1 DLC1 MS11765 nsv8290 8 13135929 13579158 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17266,nssv16637 M 31 2 0 Samples from several populations that are part of the HapMap project. C8orf48,DLC1 NA18552,NA18563 nsv521822 8 13162104 13164703 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694594 S 2026 0 1 DLC1 nsv890391 8 13177171 13253039 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542831 S 6533 0 1 DLC1 MS15916 esv2651648 8 13213570 13214983 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261059 S 1 0 1 DLC1 NA18507 esv1980179 8 13213770 13214474 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784479 S 1 0 1 DLC1 NA18507 nsv890392 8 13217547 13330073 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564768 S 6533 0 1 DLC1 IS30295 nsv516894 8 13225184 13231736 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655765,nssv654740 M 2026 2 0 DLC1 nsv516452 8 13246509 13247210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684305,nssv673697,nssv662442,nssv668482,nssv677075 M 2026 0 5 DLC1 nsv890393 8 13261245 13325331 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582291 S 6533 0 1 DLC1 IS35909 esv2752209 8 13269177 13362620 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989418,essv6984200 M 771 0 1 DLC1 BEC_8 nsv890394 8 13298269 13788311 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500557 S 6533 1 0 C8orf48,DLC1 SP50561 nsv465470 8 13305156 13325331 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541264 S 1557 0 1 DLC1 NINDS_166 nsv470184 8 13310284 13341636 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546631 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DLC1 HGDP00903 nsv465471 8 13311724 13325331 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541265 S 1557 0 1 DLC1 1780854576_A nsv6085 8 13340300 13360557 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3629 S 9 1 0 DLC1 NA12878 nsv397643 8 13355290 13355371 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416221 M 24 DLC1 nsv397741 8 13355340 13355438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416319 M 24 DLC1 nsv465473 8 13397564 13425962 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541267 S 1557 0 1 DLC1 1780854279_A nsv890395 8 13401173 13555470 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553219 S 6533 1 0 C8orf48,DLC1 MS19831 nsv517019 8 13413432 14702986 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653610,nssv652793,nssv688918,nssv659444,nssv661457,nssv690055,nssv671862,nssv657433,nssv669676,nssv659970,nssv690358,nssv667480,nssv670500,nssv691927,nssv662224,nssv670131,nssv666805,nssv688802,nssv664716,nssv680864,nssv693821,nssv657448,nssv693922,nssv697238,nssv660702,nssv672750,nssv673913,nssv675652,nssv662785,nssv664176,nssv685572,nssv661889,nssv659582,nssv684086,nssv664177,nssv665141,nssv684703,nssv704094,nssv681793,nssv667987,nssv658632,nssv656816,nssv665641,nssv698201,nssv674883,nssv706019,nssv690806,nssv705781,nssv652678,nssv666357,nssv668462,nssv665370,nssv655416,nssv653177,nssv655595,nssv687948,nssv675244,nssv653589,nssv659445,nssv666575,nssv691134,nssv683765,nssv676948,nssv676288,nssv680945,nssv678024,nssv692724,nssv657286,nssv672096,nssv686235,nssv675273,nssv674488,nssv659644,nssv680403,nssv694963,nssv665001,nssv676329,nssv651757,nssv653524,nssv674430,nssv663313,nssv660001,nssv676702,nssv681095,nssv692954,nssv666060,nssv673545,nssv663911,nssv678654,nssv684307,nssv681398,nssv658687,nssv666861,nssv683658,nssv671138,nssv657569,nssv653711,nssv682408,nssv670521,nssv653806,nssv662348,nssv658986,nssv665981,nssv691561,nssv659119,nssv653557,nssv658701,nssv657628,nssv662335,nssv687970,nssv667988,nssv674727,nssv678284,nssv687038,nssv683816,nssv688945,nssv673814,nssv701353,nssv652210,nssv662478,nssv679482,nssv657266,nssv667587,nssv664070,nssv695465,nssv676189,nssv674445,nssv666838,nssv692338,nssv671160,nssv668980,nssv676331,nssv675189,nssv654487,nssv688274,nssv670185,nssv685854,nssv659079,nssv676064,nssv677760,nssv662035,nssv661089,nssv694268,nssv681983,nssv694811,nssv691860,nssv661730,nssv664663,nssv678956,nssv683215,nssv665002,nssv667762,nssv653520,nssv669875,nssv663592,nssv684773,nssv695521,nssv672515,nssv660550,nssv653652,nssv653198,nssv665814,nssv664600,nssv696026,nssv654042,nssv691279,nssv686325,nssv653509,nssv655698,nssv674324,nssv689226,nssv696647,nssv692997,nssv677684,nssv658237,nssv673231,nssv682407,nssv692570,nssv663138,nssv679657,nssv657601,nssv675458,nssv685390,nssv661630,nssv675286,nssv659233,nssv703525,nssv675684,nssv686654,nssv686236,nssv671247,nssv677039,nssv664017,nssv659861,nssv668068,nssv673610,nssv664150,nssv682747,nssv682363,nssv664935,nssv690824,nssv690024,nssv697095,nssv655596,nssv662064,nssv676949,nssv676495,nssv685320,nssv689529,nssv659028,nssv659344,nssv661949,nssv689930,nssv690875,nssv688676,nssv690275,nssv692038,nssv677885,nssv667272,nssv686120,nssv673740,nssv674184,nssv654335,nssv677434,nssv685217,nssv664052,nssv668067,nssv674516,nssv681615,nssv661309,nssv677008,nssv657307,nssv661800,nssv686282,nssv664071,nssv671655,nssv660314,nssv689347,nssv658272,nssv680527,nssv692998,nssv667479,nssv664462,nssv660605,nssv678059,nssv681542,nssv676125,nssv684245,nssv684306,nssv679288,nssv656464,nssv657796,nssv687733,nssv703076,nssv666932,nssv666086,nssv654024 M 2026 3 254 C8orf48,DLC1,SGCZ nsv470185 8 13440994 13474949 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546633 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf48 HGDP01216 nsv465474 8 13446836 13467550 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541268 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00472 nsv890396 8 13458651 13528492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550400 S 6533 1 0 C8orf48 MS18431 nsv510129 8 13480113 13486113 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618283,nssv622153 M 4 0 2 "" CHM,NA10860 nsv890397 8 13514620 13932735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509692 S 6533 1 0 "" SP54937 nsv465475 8 13519649 13571092 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541269 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00080 nsv831239 8 13532371 13716139 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446935 S 95 1 0 "" nsv890398 8 13535366 13626738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577791 S 6533 1 0 "" IS34565 nsv465476 8 13569173 13580540 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541270 S 1557 0 1 "" 1788485381_A nsv396518 8 13576192 13576293 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415096 M 24 "" dgv2216e1 8 13581607 13896999 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv549,essv7771,esv565 M 271 0 0 "" NA18542 essv14210 8 13584750 13693864 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18913 nsv890399 8 13589651 14106651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553220 S 6533 1 0 SGCZ MS19831 esv2336425 8 13602751 13603173 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4903132 S 1 0 1 "" NA18507 nsv8292 8 13604028 13607649 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16466 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 esv271975 8 13605624 13605977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518162,essv2516122,essv2514357 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA12873,NA12874 esv1618054 8 13605660 13605660 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364491 S 2 1 0 "" HuRef nsv8293 8 13616575 13618443 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17287 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA11830 esv35045 8 13631654 13678755 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980004,essv6980003,essv6988290 M 771 0 1 "" NA18913 dgv2217e1 8 13631654 13711639 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10705,essv8525,essv9965,essv9001,essv11598,essv11412,essv13822,essv8506,essv9502,essv8552 M 271 0 0 "" NA18503,NA18508,NA18521,NA18523,NA18853,NA18854,NA19192,NA19194,NA19204,NA19207 esv2437627 8 13638215 13639695 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168370 S 1 0 1 "" NA18507 esv2237151 8 13638657 13639211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4580628 S 1 0 1 "" NA18507 esv3607 8 13638798 13639067 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26048 S 1 0 1 Single Asian sample YH "" YH nsv397203 8 13638836 13638999 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415781 M 24 "" esv995049 8 13638838 13639001 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575425 S 3 0 1 "" HuRef esv2595831 8 13638852 13639015 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206937 S 1 0 1 "" NA18507 esv1365806 8 13638853 13639017 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124605 S 2 0 1 "" HuRef nsv824546 8 13639838 13773789 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436776 S 31 0 1 "" NA18542 nsv470186 8 13641800 13653134 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546635,nssv546647,nssv546656,nssv546637,nssv546650,nssv546634,nssv546659,nssv546645,nssv546640,nssv546646,nssv546653,nssv546651,nssv546657,nssv546641,nssv546639,nssv546660,nssv546658,nssv546636,nssv546655,nssv546649,nssv546644,nssv546648,nssv546652,nssv546642,nssv546638 M 443 0 25 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00060,HGDP00459,HGDP00460,HGDP00640,HGDP00865,HGDP00904,HGDP00905,HGDP00909,HGDP00914,HGDP00920,HGDP00921,HGDP00926,HGDP00932,HGDP00935,HGDP00938,HGDP00942,HGDP01028,HGDP01033,HGDP01090,HGDP01270,HGDP01274,HGDP01284,HGDP01408,HGDP01417,HGDP01418 nsv818599 8 13641801 13772865 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417142 S 112 0 1 "" NA18542 dgv247e55 8 13642500 13772900 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752210,esv34982 M 771 0 2 "" BEC_191,NA18542 essv5435 8 13642515 13781886 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18542 nsv437598 8 13643395 13655257 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467479 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18521 nsv442440 8 13643472 13644762 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv867n27 8 13643548 13655102 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465481,nsv465482,nsv465492,nsv465495,nsv465479,nsv465478,nsv465480,nsv465496,nsv465486,nsv465497,nsv465484,nsv465487,nsv465490,nsv465493,nsv465489,nsv465485,nsv465491,nsv465477,nsv465488 M 1557 0 19 "" HGDP00013,HGDP00060,HGDP00459,HGDP00460,HGDP00640,HGDP00865,HGDP00905,HGDP00909,HGDP00920,HGDP00926,HGDP00932,HGDP00935,HGDP00942,HGDP01028,HGDP01033,HGDP01270,HGDP01274,HGDP01417,HGDP01418 esv29404 8 13643636 13653571 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16993 S 451 0 1 "" NA19257 nsv514473 8 13643690 13645113 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627933 S 1414 0 1 "" nsv890400 8 13643825 13652680 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550401 S 6533 1 0 "" MS18431 nsv818601 8 13643825 13653134 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416566,nssv1415784,nssv1417888,nssv1416567,nssv1417887 M 112 0 5 "" NA18852,NA18854,NA19140,NA19172,NA19173 nsv8294 8 13644028 13653728 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17909 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 dgv7707n71 8 13645879 13701332 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890401,nsv890402 M 6533 0 3 "" IS41581,MS21325,SP54812 nsv824547 8 13646569 13647164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421835 S 31 0 1 "" NA18997 nsv465498 8 13648456 13711639 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541292 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01172 dgv141n17 8 13657264 13700280 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437604,nsv437603,nsv437600,nsv437599,nsv437601 M 60 0 5 "" NA18503,NA18521,NA18854,NA19094,NA19194 nsv470187 8 13657264 13701332 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546671,nssv546679,nssv546668,nssv546669,nssv546670,nssv546667,nssv546663,nssv546672,nssv546673,nssv546674,nssv546677,nssv546661,nssv546664,nssv546666,nssv546675,nssv546678,nssv546662 M 443 0 17 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00450,HGDP00458,HGDP00478,HGDP00906,HGDP00911,HGDP00913,HGDP00923,HGDP00928,HGDP00931,HGDP00933,HGDP00937,HGDP00944,HGDP00994,HGDP01031,HGDP01086,HGDP01271,HGDP01283 nsv465499 8 13657581 13670412 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541293 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00931 nsv436578 8 13657874 13695829 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466444 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv8295 8 13658432 13695869 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16790,nssv18912,nssv19363 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18853 nsv499803 8 13658502 13695784 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586068 S 9 0 1 "" esv25997 8 13658558 13695899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19460 S 451 0 7 "" NA18502,NA18505,NA18508,NA18523,NA18907,NA18909,NA19129 esv2421807 8 13659088 13696077 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5006881,essv5085259,essv5097988,essv5026744,essv5136844,essv5011761,essv5053178,essv5096967,essv5154770,essv5156762,essv5111728,essv5028874,essv5109827,essv5140571,essv5148338,essv5089818,essv5158966,essv5110218,essv5058917,essv5134421,essv5106419,essv5065246,essv5060912,essv5096619,essv5089078,essv5144390,essv5099525,essv5011950,essv5048732,essv5039766,essv5099835,essv5151796,essv5053664,essv5006891,essv5034725,essv5118063,essv5018651,essv5029850,essv5119904,essv5121237,essv5087146,essv5020146,essv5079336,essv5118767,essv5021818,essv5046947,essv5078480,essv5038607,essv5092184,essv5044825,essv5050488,essv5060014,essv5029572,essv5116449,essv5019785,essv5154015,essv5134049,essv5005098,essv5110980,essv5113754,essv5115669,essv5112987,essv5009657,essv5097162,essv5027964,essv5116508,essv5104804,essv5087629,essv5124585,essv5040153,essv5012545,essv5128898,essv5127731,essv5062961,essv5047050,essv5070423,essv5150654 M 1184 0 77 "" NA18485,NA18487,NA18503,NA18504,NA18505,NA18508,NA18509,NA18519,NA18542,NA18853,NA18854,NA18867,NA18869,NA18909,NA18913,NA18933,NA18935,NA19094,NA19098,NA19119,NA19120,NA19127,NA19129,NA19131,NA19141,NA19149,NA19151,NA19152,NA19175,NA19181,NA19189,NA19192,NA19194,NA19197,NA19203,NA19204,NA19207,NA19209,NA19235,NA19308,NA19315,NA19324,NA19372,NA19390,NA19399,NA19428,NA19430,NA19434,NA19444,NA19470,NA19625,NA19704,NA19705,NA19712,NA19819,NA19828,NA19908,NA19919,NA19921,NA20129,NA20277,NA20282,NA20287,NA20288,NA20289,NA20290,NA20301,NA20302,NA20317,NA20319,NA20341,NA20356,NA21301,NA21360,NA21361,NA21510,NA21776 nsv442445 8 13659088 13696077 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv868n27 8 13659506 13680110 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465501,nsv465500,nsv465502 M 1557 0 3 "" 1798860047_A,HGDP00911,HGDP00937 nsv438039 8 13659506 13693201 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469692,nssv469699,nssv469701,nssv469700,nssv469693,nssv469695,nssv469702,nssv469697,nssv469694,nssv469698 M 269 0 7 Samples from several populations that are part of the HapMap project. "" NA18503,NA18505,NA18521,NA18522,NA19092,NA19094,NA19205 nsv433244 8 13659506 13694172 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463125 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv818602 8 13659506 13694172 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416650,nssv1417890,nssv1415795,nssv1417889,nssv1416363,nssv1418293,nssv1418294,nssv1416651,nssv1418475,nssv1418476 M 112 0 10 "" NA18853,NA18854,NA18856,NA19092,NA19094,NA19119,NA19120,NA19141,NA19192,NA19194 dgv2218e1 8 13659506 13698354 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12004,essv7946,essv10964,essv14913,essv14847,essv11390,essv12428,essv7920,essv14242,essv12904,essv11466,essv15920,essv15189,essv13972 M 271 0 0 "" NA18504,NA18522,NA18856,NA19092,NA19098,NA19100,NA19119,NA19127,NA19129,NA19141,NA19152,NA19203,NA19205,NA19209 dgv869n27 8 13659506 13701332 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465509,nsv465507,nsv465516,nsv465503,nsv465510,nsv465515,nsv465508,nsv465504,nsv465513,nsv465511,nsv465512,nsv465514 M 1557 0 12 "" HGDP00161,HGDP00450,HGDP00458,HGDP00478,HGDP00906,HGDP00913,HGDP00928,HGDP00933,HGDP00994,HGDP01086,HGDP01271,HGDP01283 dgv2219e1 8 13659506 13722323 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13247,essv12939,essv12886 M 271 0 0 "" NA18502,NA19094,NA19131 nsv514474 8 13660026 13695482 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627934 S 1414 0 1 "" dgv7708n71 8 13660236 13730869 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890403,nsv890406 M 6533 0 2 "" IS41263,MS22677 nsv890404 8 13668055 13694172 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521954 S 6533 0 1 "" SP52655 nsv465518 8 13670187 13694172 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541312 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01031 nsv890405 8 13670651 13697996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550402 S 6533 1 0 "" MS18431 nsv395928 8 13675570 13678936 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414506 M 24 "" esv269226 8 13695238 13695564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522873,essv2571006,essv2564722,essv2576360,essv2537346,essv2547084,essv2523760,essv2534719,essv2549482,essv2519804,essv2565960,essv2532684,essv2528687,essv2567313,essv2541646,essv2570032,essv2563645,essv2553242,essv2535731,essv2572493,essv2573896,essv2522563,essv2543116,essv2526911,essv2554667,essv2557918 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11931,NA11993,NA12751,NA12814,NA12878,NA12892,NA18537,NA18561,NA18564,NA18566,NA18572,NA18576,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18951,NA18960,NA18965,NA19005 esv272297 8 13695241 13695569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582056,essv2582448,essv2583192 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv442097 8 13720460 13740957 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv470189 8 13721790 13736554 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546682,nssv546683,nssv546681,nssv546680 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01029,HGDP01406,HGDP01413,HGDP01414 nsv465520 8 13721790 13740397 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541313 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 nsv396273 8 13781260 13788278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414851 M 24 "" dgv7709n71 8 13800756 13866752 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890407,nsv890408 M 6533 0 3 "" IS36787,SP52700,SP56004 esv2510289 8 13822059 13823727 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202321 S 1 0 1 "" NA18507 esv2102272 8 13822242 13822970 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502763 S 1 0 1 "" NA18507 esv4937 8 13822388 13822815 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27378 S 1 0 1 Single Asian sample YH "" YH esv5946 8 13822438 13822757 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28387 S 1 0 1 "" SJK esv1030054 8 13822444 13822770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639960 S 2 0 1 "" HuRef nsv397294 8 13830748 13831384 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415872 M 24 "" nsv465521 8 13834782 13852041 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541314 S 1557 0 1 "" NINDS_145 nsv824548 8 13843554 13844168 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425095 S 31 1 0 "" AK2 esv2422052 8 13854600 13859608 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5055376,essv5123896,essv5134777,essv5012358,essv5092302,essv5074580,essv5113381,essv5056710,essv5152631,essv5110445,essv5090760,essv5037286,essv5155754,essv5077458,essv5114017,essv5062517,essv5035771,essv5008107,essv5128962,essv5035827,essv5076049,essv5013098,essv5034266,essv5131036,essv5070387,essv5060070,essv5159771,essv5148196,essv5034871,essv5045427,essv5024275,essv5075635,essv5118889,essv5131661,essv5147021,essv5074740,essv5092128,essv5021732,essv5015029,essv5155385,essv5056387,essv5121994,essv5074702,essv5048526,essv5022127,essv5133586,essv5037547,essv5002730,essv5160133,essv5137226,essv5152362,essv5103362,essv5149673,essv5099547,essv5018918,essv5143247,essv5093029,essv5011931,essv5025498,essv5084187,essv5048454,essv5129843,essv5124251,essv5130818,essv5059386,essv5107358,essv5109220,essv5064357,essv5076583,essv5130667,essv5115675,essv5120591,essv5089467,essv5005131,essv5062950,essv5097535,essv5054860,essv5080472,essv5106481,essv5092336,essv5139091,essv5144567,essv5046907,essv5002342,essv5060722,essv5005835,essv5114161,essv5080393,essv5026747,essv5063707,essv5160246,essv5013991,essv5078593,essv5090415,essv5133821,essv5110389,essv5079212,essv5125675,essv5080158,essv5124680,essv5090894,essv5059339,essv5016699,essv5086019,essv5150653,essv5021493,essv5067548,essv5039835,essv5032018,essv5139563,essv5028095,essv5024104,essv5100006,essv5057528,essv5042830,essv5023816,essv5055968,essv5152809,essv5077991,essv5049304,essv5069452,essv5111263,essv5015236,essv5096073,essv5127848,essv5032551,essv5094401,essv5103689,essv5044026,essv5059489,essv5056507,essv5076489,essv5160188,essv5073992,essv5063819,essv5124493,essv5040964,essv5066952,essv5149002,essv5150286,essv5007130,essv5088053,essv5069294,essv5068194,essv5139439,essv5139664,essv5087636,essv5012150,essv5158397,essv5032434,essv5155516,essv5036522,essv5005755,essv5102215,essv5121125,essv5111730,essv5148272,essv5048533,essv5096870,essv5057103,essv5111950,essv5123702,essv5020327,essv5030996,essv5076886,essv5098169,essv5074582,essv5083143,essv5031848,essv5067239,essv5027302,essv5106695,essv5031016,essv5051616,essv5043229 M 1184 0 175 "" NA11840,NA11882,NA12239,NA12383,NA12400,NA12707,NA12778,NA17969,NA17972,NA17979,NA17986,NA17993,NA17995,NA17998,NA18101,NA18102,NA18105,NA18114,NA18125,NA18127,NA18129,NA18135,NA18139,NA18147,NA18148,NA18152,NA18156,NA18509,NA18511,NA18518,NA18520,NA18546,NA18555,NA18557,NA18566,NA18572,NA18573,NA18576,NA18582,NA18599,NA18608,NA18620,NA18627,NA18632,NA18638,NA18641,NA18642,NA18670,NA18694,NA18748,NA18854,NA18855,NA18857,NA18916,NA18934,NA18935,NA18939,NA18942,NA18952,NA18955,NA18956,NA18960,NA18963,NA18977,NA18995,NA18997,NA18999,NA19002,NA19005,NA19010,NA19027,NA19028,NA19035,NA19054,NA19058,NA19059,NA19060,NA19064,NA19072,NA19076,NA19078,NA19084,NA19088,NA19095,NA19117,NA19118,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19138,NA19143,NA19149,NA19152,NA19154,NA19174,NA19181,NA19182,NA19185,NA19186,NA19192,NA19193,NA19194,NA19198,NA19201,NA19206,NA19208,NA19213,NA19215,NA19235,NA19237,NA19248,NA19249,NA19307,NA19311,NA19315,NA19318,NA19321,NA19346,NA19350,NA19352,NA19373,NA19376,NA19379,NA19381,NA19382,NA19384,NA19393,NA19428,NA19437,NA19439,NA19446,NA19448,NA19467,NA19471,NA19472,NA19473,NA19625,NA19664,NA19669,NA19681,NA19682,NA19683,NA19704,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA20127,NA20128,NA20129,NA20284,NA20287,NA20300,NA20301,NA20302,NA20332,NA20344,NA20345,NA20349,NA20350,NA20510,NA20755,NA20812,NA20869,NA21086,NA21092,NA21112,NA21144,NA21473,NA21517 nsv442448 8 13854600 13859608 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv890409 8 13918524 13949858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568626 S 6533 0 1 "" IS31323 nsv465523 8 13928400 13948127 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541315 S 1557 0 1 "" NINDS_222 esv4409 8 13933126 13933357 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26850 S 1 0 1 Single Asian sample YH "" YH esv1116093 8 13933199 13933291 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3768728 S 2 0 1 "" HuRef esv27845 8 13936939 13937916 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13973 S 451 1 0 "" NA19129 esv32769 8 13937798 13937960 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100697 S 51 0 1 "" 21656 nsv470190 8 13939561 14017836 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546684 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP01270 nsv465524 8 13939562 14017836 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541316 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP01270 nsv510130 8 13964466 13970466 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624056,nssv618284 M 4 0 2 "" CHM,NA18994 esv259596 8 14003153 14003543 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394217,essv2393895 M 6 0 0 Samples from several populations that are part of the HapMap project. SGCZ NA12878,NA12891 esv259748 8 14003164 14003554 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398613,essv2400024,essv2398793,essv2394774,essv2398592,essv2399071,essv2400249,essv2396548,essv2397543,essv2400906,essv2396012,essv2396242,essv2394473,essv2398089,essv2400288,essv2396826,essv2396795,essv2395386,essv2397959,essv2399601,essv2399732,essv2397368,essv2401080,essv2400373,essv2396314,essv2397417,essv2399589,essv2395040,essv2397871,essv2396893,essv2400422,essv2394875,essv2397157,essv2400815,essv2395819,essv2394557 M 144 0 0 Samples from several populations that are part of the HapMap project. SGCZ NA06986,NA07051,NA07347,NA07357,NA10847,NA10851,NA11829,NA11919,NA11992,NA11993,NA12003,NA12006,NA12045,NA12144,NA12154,NA12155,NA12249,NA12749,NA12751,NA12761,NA12828,NA12878,NA12891,NA18555,NA18558,NA18566,NA18570,NA18571,NA18577,NA18579,NA18592,NA18942,NA18951,NA18952,NA18961,NA18965 esv1051749 8 14003444 14003444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027231 S 2 1 0 SGCZ HuRef nsv396791 8 14003445 14003445 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415369 M 24 SGCZ nsv890410 8 14005504 14081858 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550403 S 6533 1 0 SGCZ MS18431 nsv890411 8 14025000 14186652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521646 S 6533 0 1 SGCZ SP52506 esv28622 8 14082702 14083171 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21209 S 451 0 1 SGCZ NA19240 nsv890412 8 14086368 14142476 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600368 S 6533 0 1 SGCZ IS41874 dgv7710n71 8 14118719 14211660 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890413,nsv890415 M 6533 0 2 SGCZ IS31041,IS32615 nsv824549 8 14127459 14127919 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436777 S 31 0 1 SGCZ NA18542 dgv7711n71 8 14132498 14179129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890416,nsv890414 M 6533 0 2 SGCZ IS36219,MS13292 dgv870n27 8 14160810 14176825 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465526,nsv465525 M 1557 0 2 SGCZ 1780854491_A,HGDP00732 nsv890417 8 14164733 14206574 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556616 S 6533 0 1 SGCZ MS22104 nsv890418 8 14169180 14187069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555170,nssv1539157,nssv1562184,nssv1558160 M 6533 0 4 SGCZ MS14222,MS21216,MS23143,MS25429 dgv7712n71 8 14179648 14206574 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890419,nsv890421 M 6533 0 2 SGCZ IS33616,MS18847 nsv890420 8 14179648 14220381 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522787,nssv1526837 M 6533 0 2 SGCZ SP53426,SP57875 dgv871n27 8 14183678 14205409 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465529,nsv465530 M 1557 0 2 SGCZ HGDP01102,NINDS_89 nsv890422 8 14220381 14285720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591727,nssv1523452 M 6533 0 2 SGCZ IS39011,SP54030 nsv818603 8 14230075 14232324 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415905,nssv1415907 M 112 2 0 SGCZ NA10861,NA11995 dgv7713n71 8 14238991 14322567 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890423,nsv890424 M 6533 0 2 SGCZ MS17739,SP52094 nsv507442 8 14298028 14304028 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621904 S 4 1 0 SGCZ NA10860 dgv2220e1 8 14300858 14321648 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9853,essv14663,esv1265,esv1105 M 271 0 0 SGCZ NA19144,NA19145 nsv8296 8 14302768 14319307 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17668 S 31 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA19144 esv35026 8 14303000 14317600 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987878,essv6980924 M 771 0 1 SGCZ NA19144 esv29360 8 14306558 14312091 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21426 S 451 0 1 SGCZ NA18523 nsv818604 8 14307990 14317771 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418164,nssv1418165 M 112 0 2 SGCZ NA19144,NA19145 nsv8297 8 14321823 14329349 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18511 S 31 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA19240 nsv890425 8 14335688 14376240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533505 S 6533 0 1 SGCZ MS11220 nsv890426 8 14335688 14406609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598625 S 6533 0 1 SGCZ IS41042 esv268848 8 14365753 14366096 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494144,essv2505779,essv2510863,essv2512151,essv2498242 M 157 5 0 Samples from several populations that are part of the HapMap project. SGCZ NA18502,NA18861,NA19116,NA19238,NA19240 esv272575 8 14365774 14365933 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580751,essv2579449 M 7 2 0 Samples from several populations that are part of the HapMap project. SGCZ NA19238,NA19240 nsv890427 8 14372893 14434080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582969 S 6533 0 1 SGCZ IS36219 esv28727 8 14385534 14386714 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11515 S 451 6 0 SGCZ NA18861,NA18907,NA18909,NA19114,NA19129,NA19190 esv28913 8 14389850 14391453 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20112 S 451 0 1 SGCZ NA12878 dgv7714n71 8 14398987 14433852 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890428,nsv890429 M 6533 0 2 SGCZ MS22104,SP52902 nsv465531 8 14406609 14698487 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541322 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP00631 nsv470191 8 14406609 14702986 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546685 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP00631 dgv872n27 8 14417798 14432464 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465532,nsv465533 M 1557 0 2 SGCZ NINDS_27,NINDS_99 nsv890430 8 14418884 14435846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500200 S 6533 0 1 SGCZ SP50144 nsv890431 8 14474524 14622592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525601,nssv1523283 M 6533 0 2 SGCZ SP53895,SP56728 nsv465535 8 14509464 14510052 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541325 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP01246 nsv6086 8 14525015 14565465 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5061 S 9 0 1 SGCZ NA19129 esv22173 8 14545972 14550974 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14359,esv17622 M 451 0 2 SGCZ NA12749,NA19114 dgv2221e1 8 14549778 14559616 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1318,essv14902,esv956 M 271 0 0 SGCZ NA19129 nsv433245 8 14551152 14558151 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463126 S 9 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA19129 esv2421743 8 14551152 14559579 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5097410,essv5054575,essv5126938,essv5002887,essv5078506,essv5048423,essv5060597,essv5128002,essv5100203,essv5158090,essv5088451,essv5138925,essv5125472,essv5071671,essv5079541,essv5057769,essv5025813 M 1184 0 17 SGCZ NA18497,NA18498,NA18519,NA19098,NA19128,NA19129,NA19445,NA19468,NA21333,NA21336,NA21384,NA21386,NA21387,NA21389,NA21448,NA21576,NA21611 nsv499586 8 14551355 14559606 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586069 S 9 0 1 SGCZ esv23545 8 14551407 14559585 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15354 S 451 0 1 SGCZ NA19129 nsv514475 8 14552541 14553693 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627935 S 1414 0 0 SGCZ nsv442098 8 14553275 14559579 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SGCZ nsv465536 8 14574222 14617946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541326 S 1557 0 1 SGCZ NINDS_152 nsv465537 8 14611359 14640612 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541327 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP00668 nsv437048 8 14617592 14738100 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466929 S 60 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA10863 esv275224 8 14620431 14623176 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585468 S 1250 0 1 SGCZ nsv824550 8 14621807 14622513 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435969 S 31 0 1 SGCZ NA18566 nsv438040 8 14624539 14630697 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469709,nssv469713,nssv469716,nssv469711,nssv469708,nssv469704,nssv469710,nssv469715,nssv469714,nssv469703,nssv469705,nssv469706,nssv469712 M 269 0 13 Samples from several populations that are part of the HapMap project. SGCZ NA18507,NA18862,NA18863,NA18912,NA18913,NA18914,NA19102,NA19131,NA19152,NA19171,NA19238,NA19239,NA19240 nsv465538 8 14625719 14645799 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541328 S 1557 0 1 SGCZ NINDS_6 nsv890432 8 14627284 14715334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579305 S 6533 0 1 SGCZ IS35083 nsv890433 8 14627284 14716109 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550404 S 6533 1 0 SGCZ MS18431 nsv890434 8 14632299 14659379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499464 S 6533 0 1 SGCZ SP50073 dgv7715n71 8 14638265 14675272 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890439,nsv890435 M 6533 0 2 SGCZ IS38463,IS41043 dgv7716n71 8 14639918 14664691 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890436,nsv890438,nsv890437 M 6533 0 3 SGCZ IS30633,MS21252,SP52369 nsv890440 8 14654603 14717301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513443 S 6533 1 0 SGCZ SP55764 nsv890441 8 14654603 14827991 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578753 S 6533 0 1 MIR383,SGCZ IS34896 dgv2222e1 8 14670571 15809077 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18620,esv663,essv19850,essv20975,essv23648,esv677 M 271 0 0 MIR383,SGCZ,TUSC3 NA10863,NA12234 nsv8298 8 14674267 15708103 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18128,nssv19377,nssv19913,nssv17496,nssv19401,nssv15491,nssv20970,nssv19347,nssv16954 M 31 2 7 Samples from several populations that are part of the HapMap project. MIR383,SGCZ,TUSC3 NA10839,NA10863,NA12155,NA12872,NA18860,NA18972,NA19132,NA19221 nsv890442 8 14675272 14715334 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519652 S 6533 0 1 SGCZ SP50101 nsv818605 8 14675272 15704610 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417705,nssv1417716 M 112 0 2 MIR383,SGCZ,TUSC3 NA10863,NA12234 dgv248e55 8 14675298 15708398 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34616,esv34951 M 771 0 2 MIR383,SGCZ,TUSC3 NA10863,NA12234 nsv438041 8 14681135 15426553 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469720,nssv469719,nssv469723,nssv469722,nssv469717,nssv469721 M 269 0 2 Samples from several populations that are part of the HapMap project. MIR383,SGCZ NA10863,NA12234 nsv890443 8 14714205 14726863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585083,nssv1560529 M 6533 0 2 SGCZ IS37248,MS24528 nsv465540 8 14715334 14722890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541330 S 1557 0 1 SGCZ NINDS_166 nsv524332 8 14719317 14721183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700238 S 2026 0 1 SGCZ nsv890444 8 14721183 14763659 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514438 S 6533 0 1 MIR383,SGCZ SP56004 nsv469745 8 14724716 14893465 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649766 M 265 0 15 Samples from several populations that are part of the HapMap project. MIR383,SGCZ nsv437049 8 14738100 14763878 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466930 S 60 0 1 Samples from several populations that are part of the HapMap project. MIR383,SGCZ NA10863 nsv465541 8 14740116 14808735 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541331 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR383,SGCZ HGDP01053 nsv890445 8 14740116 14829855 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550405 S 6533 1 0 MIR383,SGCZ MS18431 nsv890446 8 14746477 15282260 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543042 S 6533 1 0 MIR383,SGCZ MS16032 nsv437050 8 14763878 14817558 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466931 S 60 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA10863 dgv7717n71 8 14804638 14861638 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890448,nsv890447 M 6533 0 2 SGCZ IS35771,SP58416 nsv465542 8 14806163 14816648 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541332 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP01330 nsv465543 8 14806562 14813872 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541333 S 1557 0 1 SGCZ 1782681091_A nsv890449 8 14811050 14834552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582592 S 6533 0 1 SGCZ IS36046 nsv437051 8 14817558 14884772 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466932 S 60 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA10863 nsv890450 8 14821402 14855540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532675 S 6533 0 1 SGCZ MS10802 nsv518542 8 14824624 14898946 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695986 S 2026 1 0 SGCZ nsv465544 8 14829855 14852281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541334 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP00141 dgv449n21 8 14831731 14840170 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525237,nsv516095 M 2026 0 23 SGCZ nsv442099 8 14832796 14840174 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SGCZ nsv514476 8 14832937 14836941 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627937 S 1414 0 1 SGCZ nsv524888 8 14835862 14840170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700894 S 2026 0 1 SGCZ nsv465545 8 14839288 14853304 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541335 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP00127 nsv465546 8 14839288 14866475 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541336 S 1557 0 1 SGCZ 1780854495_A nsv525799 8 14852007 14855604 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701981 S 2026 0 1 SGCZ nsv523294 8 14852007 14870204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699034 S 2026 0 1 SGCZ nsv465547 8 14858679 14866475 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541337 S 1557 0 1 SGCZ NINDS_174 nsv890451 8 14867197 14893309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519653 S 6533 0 1 SGCZ SP50101 nsv890452 8 14870204 15064771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582460 S 6533 0 1 SGCZ IS35963 nsv396378 8 14877691 14877835 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414956 M 24 SGCZ nsv465548 8 14882160 14895349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541338 S 1557 0 1 SGCZ NINDS_104 dgv7718n71 8 14883377 14893309 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890454,nsv890453 M 6533 0 2 SGCZ IS31729,SP54030 nsv437052 8 14884772 15112351 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466933 S 60 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA10863 nsv890455 8 14886671 14919295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591728 S 6533 0 1 SGCZ IS39011 nsv520590 8 14887770 14890962 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678108,nssv689299,nssv694957,nssv672907,nssv689348 M 2026 0 5 SGCZ esv995763 8 14893374 14894995 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586781 S 3 0 1 SGCZ HuRef dgv7719n71 8 14903037 14919295 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890456,nsv890457 M 6533 0 2 SGCZ SP53320,SP55013 nsv465549 8 14929488 14947524 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541339 S 1557 0 1 SGCZ NINDS_99 nsv831240 8 14937189 15126039 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446936,nssv1446937 M 95 2 0 SGCZ esv267395 8 14943608 14943789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526300,essv2523189,essv2521755,essv2520606,essv2547177,essv2529292,essv2576510,essv2520158 M 157 8 0 Samples from several populations that are part of the HapMap project. SGCZ NA11918,NA12004,NA12144,NA12716,NA12717,NA12749,NA12814,NA12815 nsv520906 8 14951669 14955994 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697681 S 2026 1 0 SGCZ nsv519666 8 14965865 14966783 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657465,nssv686269,nssv679157 M 2026 3 0 SGCZ nsv890458 8 14976693 15073576 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595214 S 6533 1 0 SGCZ IS40169 esv273385 8 14984841 14985155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584864,essv2583549 M 7 2 0 Samples from several populations that are part of the HapMap project. SGCZ NA19239,NA19240 nsv527437 8 14995266 15001088 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703877 S 2026 0 1 SGCZ nsv890459 8 14996314 15030986 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530259 S 6533 0 1 SGCZ MS10287 dgv7720n71 8 15016773 15096299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890461,nsv890460 M 6533 0 2 SGCZ IS31257,IS34573 nsv890462 8 15044917 15095718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560530 S 6533 0 1 SGCZ MS24528 esv2566045 8 15045197 15046564 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166916 S 1 0 1 SGCZ NA18507 esv2024165 8 15045451 15046138 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511399 S 1 0 1 SGCZ NA18507 esv3950 8 15045599 15046064 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26391 S 1 0 1 Single Asian sample YH SGCZ YH dgv241n6 8 15045638 15045970 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396889,nsv397835 M 24 SGCZ esv6670 8 15045642 15045957 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29111 S 1 0 1 SGCZ SJK esv994811 8 15045647 15045966 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578160 S 3 0 1 SGCZ HuRef esv1232453 8 15045650 15045970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124689 S 2 0 1 SGCZ HuRef dgv7721n71 8 15057605 15086749 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890463,nsv890467,nsv890465,nsv890468 M 6533 0 5 SGCZ IS31137,IS33839,IS34407,IS35771,IS38065 dgv7722n71 8 15059750 15095718 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890470,nsv890464,nsv890472,nsv890469,nsv890471 M 6533 0 10 SGCZ IS30764,IS31335,IS31837,IS39011,IS41043,MS10737,MS10802,MS20872,MS25963,SP54579 nsv890466 8 15059952 15322656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515698 S 6533 0 1 SGCZ SP56248 nsv890473 8 15073963 15102474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563375 S 6533 0 1 SGCZ MS25976 dgv7723n71 8 15080417 15087509 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890474,nsv890475 M 6533 0 7 SGCZ IS30241,IS30508,IS35114,IS37999,MS15234,MS22245,SP55353 nsv890477 8 15080417 15095164 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519654,nssv1560983,nssv1550406,nssv1589249,nssv1503655 M 6533 2 3 SGCZ IS38330,MS18431,MS24785,SP50101,SP52093 dgv7724n71 8 15080417 15095529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890478,nsv890476 M 6533 0 3 SGCZ IS36219,IS36533,SP56851 nsv465551 8 15081123 15085068 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541341 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SGCZ HGDP01263 nsv528003 8 15090097 15090196 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704528 S 2026 0 1 SGCZ nsv524304 8 15091385 15095529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700205 S 2026 0 1 SGCZ nsv516690 8 15092801 15095529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671691,nssv685321,nssv657329,nssv670186,nssv661090,nssv661242,nssv682816,nssv702703,nssv680006,nssv693969,nssv678743,nssv678109,nssv658238,nssv693080,nssv692134,nssv685392,nssv679658,nssv682748 M 2026 0 18 SGCZ nsv818606 8 15092801 15095529 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416568 S 112 0 1 SGCZ NA19172 nsv437053 8 15112351 15216360 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466934 S 60 0 1 Samples from several populations that are part of the HapMap project. SGCZ NA10863 nsv524809 8 15133816 15138968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700801 S 2026 0 1 SGCZ nsv520158 8 15136614 15138968 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689931,nssv661288 M 2026 0 2 SGCZ nsv527456 8 15152819 15156725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703898 S 2026 0 1 "" nsv523516 8 15156105 15156725 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699289 S 2026 0 1 "" nsv890479 8 15156105 15164776 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519774 S 6533 1 0 "" SP50544 nsv890480 8 15158886 15189758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503192 S 6533 0 1 "" SP51506 esv23329 8 15186899 15188293 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14061 S 451 0 2 "" NA18523,NA18907 esv269449 8 15194115 15194463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512548,essv2509745,essv2501143,essv2505319,essv2504846,essv2506689,essv2498893,essv2510411,essv2496986,essv2493901,essv2499636,essv2502206 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18508,NA18516,NA18853,NA19099,NA19108,NA19138,NA19172,NA19190,NA19210,NA19225,NA19257 nsv890481 8 15200451 15226159 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584033 S 6533 0 1 "" IS36787 nsv890482 8 15200451 15277798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583435 S 6533 0 1 "" IS36475 nsv890483 8 15214178 15251546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576844 S 6533 0 1 "" IS34264 nsv437054 8 15216360 15258515 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466935 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 dgv7725n71 8 15227296 15283049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890484,nsv890485 M 6533 0 2 "" IS41839,MS23340 nsv465552 8 15234679 15246864 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541342 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00171 nsv470192 8 15234679 15246864 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546686 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00461 nsv890486 8 15234679 15251546 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560531 S 6533 0 1 "" MS24528 nsv890487 8 15236173 15303630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577828 S 6533 0 1 "" IS34573 nsv519719 8 15239936 15240823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672119,nssv657881,nssv672398 M 2026 0 3 "" esv1740461 8 15254998 15254998 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351925 S 2 1 0 "" HuRef nsv890488 8 15271411 15287140 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550407 S 6533 1 0 "" MS18431 nsv517993 8 15281238 15281427 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695406 S 2026 1 0 "" nsv437055 8 15300806 15708708 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466936 S 60 0 1 Samples from several populations that are part of the HapMap project. TUSC3 NA10863 nsv522160 8 15309542 15333437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694934 S 2026 0 1 "" nsv470193 8 15312999 15318689 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546688 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01383 nsv522196 8 15318148 15334490 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694143 S 2026 0 1 "" nsv890489 8 15325750 15680133 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543043 S 6533 1 0 TUSC3 MS16032 esv2581961 8 15330160 15333767 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269661 S 1 0 1 "" NA18507 nsv890490 8 15358087 15377479 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541506 S 6533 0 1 "" MS15341 dgv7726n71 8 15358087 15391770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890491,nsv890493 M 6533 0 2 "" IS35229,IS41113 nsv890492 8 15360113 15386324 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550408 S 6533 1 0 "" MS18431 nsv523060 8 15366667 15367141 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698744 S 2026 0 1 "" nsv518433 8 15366667 15378062 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695867 S 2026 1 0 "" nsv890494 8 15366667 15382260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591428 S 6533 0 1 "" IS38818 nsv890495 8 15371515 15392190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519655 S 6533 0 1 "" SP50101 nsv6087 8 15371517 15392348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv720 S 9 1 0 "" NA19240 nsv890496 8 15382260 15392190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546169 S 6533 0 1 "" MS17114 nsv890497 8 15382260 15398579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560984 S 6533 0 1 "" MS24785 nsv890498 8 15405108 15430419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527593,nssv1501884 M 6533 0 2 "" SP50977,SP58553 nsv510131 8 15419371 15425371 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618285 S 4 0 1 "" CHM dgv7727n71 8 15422384 15464148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890499,nsv890500 M 6533 0 2 TUSC3 IS38293,IS39716 esv2509666 8 15430941 15432400 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305165 S 1 0 1 "" NA18507 esv2254657 8 15431495 15432167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932447 S 1 0 1 "" NA18507 nsv517314 8 15432937 15455979 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671601,nssv661813,nssv682735,nssv673287,nssv692160,nssv678262,nssv678765,nssv687251,nssv678110,nssv669914,nssv693045,nssv685080,nssv660462,nssv691147,nssv667905,nssv654365,nssv656624,nssv669461,nssv656081,nssv685623,nssv656955,nssv688143,nssv684342,nssv674013,nssv655723,nssv671383,nssv689654,nssv679454,nssv669105,nssv660097,nssv661853,nssv664601,nssv679013,nssv693770,nssv675588,nssv674943,nssv686628,nssv673765,nssv682665,nssv651686,nssv658534,nssv658113,nssv690557,nssv684877,nssv653316,nssv670298,nssv663978,nssv659565,nssv680662,nssv663407,nssv681491,nssv678178,nssv659063,nssv674798,nssv672940,nssv676364,nssv654911,nssv689988,nssv691087,nssv652298,nssv676455,nssv683010,nssv671202,nssv672360,nssv666981,nssv669614,nssv688195,nssv677464,nssv677860,nssv681726,nssv657645,nssv665655,nssv661773,nssv652358,nssv680236,nssv676065 M 2026 0 76 TUSC3 nsv465554 8 15439515 15455979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541343 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TUSC3 HGDP00274 dgv7728n71 8 15439515 15464148 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890501,nsv890504,nsv890503 M 6533 0 69 TUSC3 SP50077,SP50102,SP50107,SP50117,SP50120,SP50585,SP50665,SP50900,SP50973,SP51057,SP51061,SP51108,SP51109,SP51115,SP51161,SP51493,SP52008,SP52130,SP52175,SP52676,SP52772,SP53041,SP54049,SP54083,SP54356,SP54430,SP54556,SP54577,SP54587,SP54650,SP54661,SP54663,SP54769,SP54792,SP55125,SP55287,SP55381,SP55433,SP55539,SP55567,SP55621,SP55630,SP55649,SP55694,SP55698,SP55748,SP55852,SP55992,SP56042,SP56119,SP56172,SP56200,SP56223,SP56231,SP56294,SP56458,SP57306,SP57341,SP57404,SP57445,SP57469,SP57651,SP57856,SP58155,SP58561,SP58581,SP80924,SP81074,SP81097 dgv7729n71 8 15439515 15486984 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890502,nsv890505 M 6533 0 2 TUSC3 IS41806,SP56467 nsv6089 8 15440864 15467708 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6204 S 9 0 1 TUSC3 NA12156 esv272679 8 15443690 15444014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581665,essv2582999 M 7 2 0 Samples from several populations that are part of the HapMap project. TUSC3 NA12878,NA12892 esv267814 8 15443691 15444013 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546300,essv2521259,essv2526252,essv2536378,essv2522726,essv2556502,essv2568388,essv2545339,essv2523366,essv2548348,essv2535125,essv2554331,essv2544402,essv2520342,essv2547450,essv2564616,essv2576229,essv2564305,essv2555043,essv2530622,essv2537636,essv2547122,essv2544924,essv2535691,essv2536235,essv2533234,essv2554465 M 157 27 0 Samples from several populations that are part of the HapMap project. TUSC3 NA06986,NA07051,NA07346,NA11881,NA11894,NA11918,NA11920,NA11931,NA11994,NA11995,NA12003,NA12004,NA12045,NA12249,NA12287,NA12414,NA12716,NA12717,NA12751,NA12814,NA12828,NA12872,NA12873,NA12878,NA12892,NA18526,NA18608 esv1267406 8 15443719 15443719 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272802 S 2 1 0 TUSC3 HuRef esv28500 8 15446216 15457509 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15676 S 451 0 2 TUSC3 NA07037,NA12156 nsv824551 8 15446238 15457978 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435970 S 31 0 1 TUSC3 NA18566 nsv433246 8 15446378 15455979 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463127 S 9 0 1 Samples from several populations that are part of the HapMap project. TUSC3 NA12156 esv2421337 8 15446378 15457818 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5031756,essv5028970,essv5141308,essv5109743,essv5091542,essv5143688,essv5146632,essv5109187,essv5146393,essv5044375,essv5120242,essv5131241,essv5059151,essv5074654,essv5102791,essv5143200,essv5052451,essv5004885,essv5014446,essv5118408,essv5133837,essv5049151,essv5122975,essv5023553,essv5067782,essv5130003,essv5152316,essv5027756,essv5139005,essv5116945,essv5014868,essv5019090,essv5010462,essv5135362,essv5158799,essv5091390,essv5103992,essv5060955,essv5056108,essv5061444,essv5041741,essv5128899,essv5085601,essv5002677,essv5130267,essv5037307,essv5146727,essv5102129,essv5147582,essv5153844,essv5071251,essv5088686,essv5103557,essv5063371,essv5039257,essv5157169,essv5031830,essv5120816,essv5075565,essv5147451,essv5092955,essv5146435,essv5083565,essv5058873 M 1184 0 64 TUSC3 NA07037,NA10863,NA11840,NA12156,NA12234,NA12264,NA12386,NA12399,NA12766,NA12775,NA12830,NA18101,NA18109,NA18149,NA18151,NA18157,NA18161,NA18532,NA18534,NA18566,NA18579,NA18608,NA18620,NA18623,NA18624,NA18633,NA18637,NA18957,NA18962,NA19059,NA19064,NA19065,NA19076,NA19086,NA19656,NA20761,NA20799,NA20806,NA20828,NA20901,NA21094,NA21112,NA21301,NA21302,NA21308,NA21318,NA21320,NA21344,NA21379,NA21399,NA21401,NA21402,NA21404,NA21405,NA21438,NA21476,NA21477,NA21576,NA21578,NA21617,NA21635,NA21636,NA21678,NA21740 nsv465555 8 15447307 15455979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541344 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TUSC3 HGDP00157 nsv818607 8 15447307 15455979 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417694,nssv1417288 M 112 0 2 TUSC3 NA12264,NA18608 dgv873n27 8 15447307 15471819 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465557,nsv465556 M 1557 0 2 TUSC3 1782681091_A,HGDP00805 nsv442472 8 15447431 15455977 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TUSC3 nsv514477 8 15447639 15471837 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627938 S 1414 0 1 TUSC3 nsv6090 8 15455109 15488724 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3630 S 9 1 0 TUSC3 NA12878 esv2193216 8 15455129 15455612 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842355 S 1 0 1 TUSC3 NA18507 esv4612 8 15455154 15455600 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27053 S 1 0 1 Single Asian sample YH TUSC3 YH nsv890506 8 15455979 15486984 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556463,nssv1558084,nssv1590052,nssv1544254,nssv1566279,nssv1552042,nssv1600871,nssv1522543,nssv1541880,nssv1555722,nssv1586465,nssv1526982,nssv1580549,nssv1539567,nssv1532892,nssv1597112,nssv1533488,nssv1540957,nssv1565042,nssv1563630,nssv1552126,nssv1553484,nssv1591026,nssv1536878,nssv1583326 M 6533 4 21 TUSC3 IS30345,IS30635,IS35378,IS36423,IS37820,IS38449,IS38621,IS40737,IS41938,MS10925,MS11204,MS12996,MS14368,MS15102,MS15525,MS16315,MS19140,MS19226,MS20042,MS21525,MS22013,MS23109,MS26140,SP53250,SP58031 nsv890507 8 15455979 15486984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504469,nssv1516966,nssv1502453 M 6533 0 3 TUSC3 SP51192,SP52529,SP57010 nsv510132 8 15461764 15467764 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624058 S 4 0 1 TUSC3 NA18994 esv2421867 8 15464148 15478054 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090173,essv5096599,essv5027482,essv5133459,essv5010028,essv5099213,essv5051540,essv5093969,essv5067230,essv5018394,essv5025126,essv5161000,essv5095501 M 1184 0 13 TUSC3 NA10863,NA12234,NA18144,NA19309,NA19319,NA20811,NA21086,NA21144,NA21353,NA21399,NA21402,NA21405,NA21693 dgv874n27 8 15464497 15475846 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465560,nsv465559 M 1557 0 2 TUSC3 HGDP00237,HGDP00550 dgv875n27 8 15464497 15475846 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465562,nsv465563 M 1557 2 0 TUSC3 HGDP00619,HGDP00697 nsv517114 8 15464497 15475846 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691431,nssv684001,nssv691003,nssv660294,nssv652518,nssv675780,nssv678522,nssv664767,nssv653807 M 2026 2 7 TUSC3 nsv818608 8 15464497 15475846 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417210 S 112 1 0 TUSC3 NA18558 nsv465564 8 15464497 15486984 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541352 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TUSC3 HGDP01302 nsv890508 8 15476553 15694369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546386 S 6533 1 0 TUSC3 MS17203 nsv528536 8 15512029 15524009 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705148 S 2026 0 1 TUSC3 nsv510978 8 15549187 15611657 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621606 S 4 0 0 TUSC3 NA15510 dgv7730n71 8 15556138 15660629 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890510,nsv890509 M 6533 0 2 TUSC3 IS41113,MS22104 nsv507443 8 15566851 15572851 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623029,nssv617761 M 4 2 0 TUSC3 CHM,NA18994 nsv520235 8 15571747 15573561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684467,nssv662065 M 2026 0 2 TUSC3 esv270210 8 15592855 15593208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516975,essv2514060,essv2514831,essv2515044,essv2514437,essv2515258,essv2518309,essv2513712 M 157 8 0 Samples from several populations that are part of the HapMap project. TUSC3 NA07347,NA11931,NA12043,NA12234,NA12812,NA12874,NA19238,NA19240 esv273636 8 15592856 15593207 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584087,essv2583663 M 7 2 0 Samples from several populations that are part of the HapMap project. TUSC3 NA19238,NA19240 nsv890511 8 15615558 15639347 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578676 S 6533 0 1 TUSC3 IS34856 dgv7731n71 8 15615558 15651684 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890512,nsv890513 M 6533 0 2 TUSC3 IS31991,IS36244 nsv890514 8 15625763 15660060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579845 S 6533 0 1 TUSC3 IS35181 nsv890515 8 15633437 15643863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522134 S 6533 0 1 TUSC3 SP52740 nsv516746 8 15644214 15651684 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670843,nssv670600,nssv691443,nssv689084 M 2026 4 0 TUSC3 nsv522161 8 15656974 15657484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694935 S 2026 0 1 TUSC3 nsv438042 8 15656974 15704929 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469726,nssv469730,nssv469728,nssv469724,nssv469727,nssv469725 M 269 0 2 Samples from several populations that are part of the HapMap project. TUSC3 NA10863,NA12234 nsv528442 8 15657484 15660060 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705037 S 2026 1 0 TUSC3 nsv6091 8 15667725 15713161 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6206 S 9 0 1 TUSC3 NA12156 nsv529024 8 15693905 15702024 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705735 S 2026 1 0 "" nsv465565 8 15696490 15701490 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541353 S 1557 0 1 "" NINDS_173 nsv890516 8 15700057 15816489 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546387 S 6533 1 0 "" MS17203 nsv525544 8 15700499 15702127 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701681 S 2026 1 0 "" nsv890517 8 15718351 15744498 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550409 S 6533 1 0 "" MS18431 nsv528537 8 15721604 15723846 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705149 S 2026 0 1 "" dgv7732n71 8 15727871 15786737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890520,nsv890524,nsv890523,nsv890522,nsv890518,nsv890519,nsv890521 M 6533 0 11 "" IS35581,IS40920,MS11171,SP52095,SP52708,SP54543,SP55086,SP56965,SP81080,SP81135,SP81440 nsv465566 8 15742470 15759870 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541354 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01308 nsv465567 8 15742470 15777260 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541355 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01310 nsv890525 8 15744498 15777260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533985 S 6533 0 1 "" MS11361 nsv890526 8 15782386 15944059 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522880 S 6533 0 1 "" SP53491 nsv890527 8 15786737 15808189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585129 S 6533 0 1 "" IS37293 nsv890528 8 15802348 15832703 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584460,nssv1597585,nssv1597814,nssv1594628,nssv1529657,nssv1564789,nssv1580660,nssv1593767,nssv1597938 M 6533 0 9 "" IS30300,IS35412,IS37040,IS39516,IS39958,IS40832,IS40855,IS41189,MS10102 nsv890529 8 15808189 15831260 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499494 S 6533 1 0 "" SP50017 nsv8299 8 15815179 15996410 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16205 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv517621 8 15828545 15831260 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692924,nssv666115,nssv676722,nssv660875,nssv662671,nssv680807,nssv678263,nssv681041,nssv680134,nssv652545,nssv667482,nssv678341,nssv665848,nssv658356,nssv684977,nssv672410 M 2026 0 16 "" nsv818609 8 15828545 15831260 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417042 S 112 0 1 "" NA07000 nsv890530 8 15832922 16518412 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546388 S 6533 1 0 MSR1 MS17203 nsv397151 8 15838369 15838369 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415729 M 24 "" nsv397716 8 15838466 15838466 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416294 M 24 "" nsv470194 8 15849732 15871038 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546689 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 esv27529 8 15860244 15862884 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14393 S 451 0 4 "" NA18508,NA18916,NA19129,NA19147 nsv890531 8 15866740 15884216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550410 S 6533 1 0 "" MS18431 nsv528487 8 15879934 15884216 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705091 S 2026 0 1 "" nsv526423 8 15898825 15917140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702724 S 2026 0 1 "" nsv516825 8 15919229 15980161 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694355,nssv671560,nssv695560,nssv690856,nssv671203,nssv689441,nssv663419,nssv678889 M 2026 7 1 "" nsv831241 8 15927142 16048616 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446940,nssv1446938 M 95 1 1 MSR1 esv2752241 8 15928697 15995420 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986468,essv6983600 M 771 1 0 "" BEC_671 dgv876n27 8 15929497 15980161 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465568,nsv465570,nsv465569 M 1557 3 0 "" 1780854257_A,1780854437_A,NINDS_232 nsv465571 8 15950903 15973409 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541359 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00947 nsv528459 8 15957152 15988678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705061 S 2026 0 1 "" dgv249e55 8 15977607 16065839 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752242,esv2752243 M 771 0 2 MSR1 BEC_191,BEC_73 nsv519848 8 15983553 15988678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697083 S 2026 0 1 "" nsv465573 8 15984805 15988678 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541361 S 1557 0 1 "" 1780862212_A dgv7733n71 8 15988678 16079224 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890532,nsv890533 M 6533 0 3 MSR1 IS33839,IS35763,MS21483 nsv470195 8 15994142 16065839 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546691,nssv546690 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MSR1 HGDP00628,HGDP00629 dgv877n27 8 15994142 16073465 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465578,nsv465575,nsv465579,nsv465577,nsv465576,nsv465580 M 1557 0 6 MSR1 1780862041_A,1780862306_A,HGDP00524,HGDP00886,HGDP01402,NINDS_206 nsv516531 8 15994142 16073465 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656737,nssv688288,nssv683327,nssv677314,nssv678254,nssv670726,nssv656442,nssv678562,nssv680206,nssv668914,nssv672836 M 2026 0 11 MSR1 nsv465581 8 16016055 16029553 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541368 S 1557 0 1 MSR1 1780862466_A esv269479 8 16018361 16018708 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503617,essv2495759 M 157 2 0 Samples from several populations that are part of the HapMap project. MSR1 NA06986,NA07000 dgv7734n71 8 16025334 16099299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890534,nsv890535 M 6533 0 2 MSR1 IS34573,MS25617 nsv465582 8 16031230 16073465 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541369 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MSR1 HGDP01172 esv3448 8 16038608 16039989 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25889 S 1 0 1 Single Asian sample YH MSR1 YH nsv824552 8 16042289 16042828 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423538 S 31 0 1 MSR1 NA18999 nsv519153 8 16073465 16137027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696630 S 2026 0 1 MSR1 nsv520688 8 16079224 16094506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697557 S 2026 0 1 MSR1 nsv512943 8 16091844 16091967 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625593 S 1 1 0 MSR1 1 nsv890536 8 16094506 16290025 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554536 S 6533 1 0 MSR1 MS20850 nsv890537 8 16113895 16409224 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599690 S 6533 1 0 "" IS41769 nsv525730 8 16123083 16125684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701894 S 2026 0 1 "" nsv518492 8 16144651 16165538 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695932 S 2026 0 1 "" esv270138 8 16147163 16147467 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558087,essv2565704,essv2575902,essv2541001,essv2571830,essv2546231,essv2521170,essv2526143,essv2542573,essv2536750,essv2522718,essv2543981,essv2570963,essv2556586,essv2568168,essv2545335,essv2523280,essv2531924,essv2577348,essv2570757,essv2548366,essv2521752,essv2576735,essv2550700,essv2525269,essv2550484,essv2535285,essv2554278,essv2544460,essv2552009,essv2520450,essv2547565,essv2529362,essv2558466,essv2564484,essv2577793,essv2553676,essv2559513,essv2565441,essv2576223,essv2520025,essv2564033,essv2530557,essv2562083,essv2537182,essv2528194,essv2546975,essv2540071,essv2520802,essv2557131,essv2552378,essv2562663,essv2578577,essv2550003,essv2558914,essv2569843,essv2527076,essv2561721,essv2544730,essv2523792,essv2552954,essv2541400,essv2538210,essv2542746,essv2540540,essv2524747,essv2564826,essv2534723,essv2561151,essv2539607,essv2549140,essv2519807,essv2559995,essv2522236,essv2566205,essv2531174,essv2532810,essv2567741,essv2528706,essv2567601,essv2541862,essv2569963,essv2563706,essv2553450,essv2535539,essv2572387,essv2559134,essv2543456,essv2556195,essv2528125,essv2539387,essv2578390,essv2533775,essv2555703,essv2567013,essv2566633,essv2530120,essv2573810,essv2527719,essv2534260,essv2522502,essv2531319,essv2573720,essv2543396,essv2576941,essv2572131,essv2526849,essv2526603,essv2560717,essv2574553,essv2560187,essv2549707,essv2545707,essv2574508,essv2551427,essv2536254,essv2538065,essv2548956,essv2533022,essv2554485,essv2547903,essv2525129,essv2563552 M 157 123 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18501,NA18502,NA18507,NA18510,NA18511,NA18516,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18870,NA18871,NA18907,NA18912,NA18940,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA19005,NA19114,NA19116,NA19138,NA19190,NA19225,NA19239,NA19240,NA19257 esv273013 8 16147164 16147466 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581855,essv2583258 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 esv1380723 8 16147193 16147193 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615668 S 2 1 0 "" HuRef nsv831242 8 16150756 16348466 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446941 S 95 1 0 "" esv987817 8 16199067 16199067 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584103 S 3 1 0 "" HuRef esv1131320 8 16199156 16199156 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4089487 S 2 1 0 "" HuRef nsv6092 8 16231527 16267489 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10611,nssv5062 M 9 0 2 "" NA18956,NA19129 dgv2223e1 8 16231929 17010633 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20693,esv623,essv24490,esv786,essv23895,essv25091 M 271 0 0 EFHA2,FGF20 NA12802,NA12814 dgv142n17 8 16241663 16256536 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437056,nsv437057,nsv437059 M 60 0 3 "" NA07019,NA10835,NA12752 nsv8300 8 16245129 16252207 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17698,nssv16464,nssv17175,nssv19461,nssv16820,nssv18942,nssv20204,nssv19407,nssv16945,nssv17939,nssv16252,nssv18158,nssv19393 M 31 0 13 Samples from several populations that are part of the HapMap project. "" NA12155,NA18502,NA18504,NA18517,NA18537,NA18853,NA18860,NA18942,NA18975,NA18980,NA19132,NA19144,NA19173 esv2431536 8 16245393 16252675 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372945 S 1 0 1 "" NA18507 nsv820214 8 16245464 16252137 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419788 S 2 0 1 "" AK1 esv2292614 8 16245501 16252079 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4569076 S 1 0 1 "" NA18507 nsv824554 8 16245568 16251365 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432175,nssv1425096,nssv1429935,nssv1427602,nssv1425885,nssv1438943,nssv1431438,nssv1439787,nssv1435971,nssv1438267,nssv1423539,nssv1428421,nssv1426810,nssv1435209,nssv1434520 M 31 0 15 "" AK10,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18537,NA18566,NA18570,NA18942,NA18951,NA18973,NA18999 esv26549 8 16245622 16251869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13405 S 451 0 15 "" NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225 nsv436582 8 16245666 16252485 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466445 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499270 8 16245680 16251902 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586070 S 9 0 1 "" nsv398384 8 16245684 16251904 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416962 M 24 "" nsv514478 8 16245767 16251180 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627939 S 1414 0 1 "" nsv438043 8 16245929 16250731 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469749,nssv469734,nssv469764,nssv469755,nssv469744,nssv469731,nssv469732,nssv469765,nssv469733,nssv469746,nssv469736,nssv469738,nssv469737,nssv469762,nssv469739,nssv469747,nssv469743,nssv469766,nssv469758,nssv469745,nssv469735,nssv469760,nssv469751,nssv469753,nssv469756,nssv469750,nssv469742,nssv469754,nssv469761,nssv469759,nssv469757,nssv469748 M 269 0 31 Samples from several populations that are part of the HapMap project. "" NA10835,NA12248,NA12752,NA12760,NA18505,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18612,NA18852,NA18854,NA18956,NA18975,NA18990,NA18992,NA18998,NA19128,NA19129,NA19130,NA19153,NA19160,NA19192,NA19194,NA19201,NA19204,NA19208,NA19209,NA19211 esv2421806 8 16246032 16251494 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5150221,essv5049566,essv5152458,essv5155652,essv5086658,essv5072038,essv5087576,essv5154774,essv5102732,essv5087064,essv5067354,essv5146228,essv5113556,essv5036260,essv5026699,essv5094820,essv5036448,essv5136028,essv5122230,essv5134205,essv5095115,essv5088800,essv5054308,essv5153092,essv5118496,essv5025208,essv5142088,essv5032323,essv5049018,essv5018498,essv5056343,essv5103738,essv5049192,essv5028179,essv5145497,essv5128530,essv5134066,essv5131303,essv5044034,essv5067228,essv5014885,essv5068333,essv5140148,essv5021920,essv5042455,essv5071373,essv5073175,essv5038387,essv5105727,essv5067827,essv5110991,essv5123197,essv5118100,essv5078633,essv5153714,essv5052200,essv5007338,essv5156314,essv5124392,essv5014073,essv5053094,essv5109882,essv5090708,essv5064745,essv5061615,essv5063351,essv5107648,essv5141446,essv5149212,essv5021052,essv5054511,essv5099202,essv5038816,essv5068715,essv5024427,essv5070215,essv5126933,essv5044156,essv5148708,essv5116705,essv5134549,essv5138401,essv5098181,essv5097258,essv5032881,essv5115981,essv5019514,essv5078642,essv5016151,essv5145806,essv5007404,essv5024825,essv5025908,essv5026543,essv5093898,essv5030632,essv5085625,essv5035334,essv5009822,essv5067603,essv5094095,essv5003358,essv5032860,essv5161036,essv5045326,essv5145026,essv5019228,essv5033273,essv5062195,essv5090439,essv5062590,essv5010050,essv5133781,essv5033802,essv5047450,essv5055236,essv5011430,essv5128028,essv5052527,essv5074377,essv5050816,essv5115572,essv5130906,essv5142587,essv5023111,essv5125681,essv5047697,essv5154037,essv5132024,essv5088670,essv5116264,essv5160114,essv5115099,essv5063886,essv5092672,essv5068656,essv5091863,essv5104425,essv5118934,essv5033930,essv5119730,essv5042641,essv5115217,essv5015001,essv5028278,essv5013937,essv5090422,essv5141106,essv5003956,essv5119112,essv5065420,essv5018660,essv5073514,essv5070788,essv5105719,essv5138879,essv5007234,essv5153945,essv5070911,essv5033262,essv5115142,essv5058277,essv5145119,essv5008055,essv5076058,essv5093842,essv5092796,essv5080448,essv5034250,essv5081392,essv5019415,essv5098080,essv5155549,essv5017255,essv5097457,essv5002515,essv5010525,essv5005296,essv5016913,essv5050196,essv5117513,essv5056769,essv5052796,essv5094880,essv5123501,essv5023622,essv5101245,essv5121516,essv5054029,essv5128545,essv5086917,essv5034640,essv5053334,essv5073096,essv5077780,essv5115430,essv5083919,essv5084503,essv5158242,essv5052847,essv5064502,essv5025889,essv5105509,essv5042214,essv5091603,essv5035373,essv5115906,essv5116279,essv5125651,essv5033591,essv5150797,essv5112744,essv5094988,essv5144139,essv5109856,essv5045648,essv5060672,essv5097472,essv5088189,essv5020929,essv5117767,essv5126117,essv5083006,essv5046760,essv5053082,essv5008976,essv5132997,essv5016769,essv5113286,essv5094585,essv5146761,essv5154275,essv5041601,essv5011987,essv5143800,essv5146623,essv5072486,essv5107619,essv5020326,essv5060426,essv5153806,essv5087083,essv5072409,essv5150238,essv5112581,essv5069707,essv5043465,essv5122376,essv5110123,essv5002749,essv5059749,essv5108303,essv5125605,essv5125688,essv5115063,essv5149160,essv5113482,essv5110730,essv5015090,essv5158903,essv5016917,essv5098980,essv5066416,essv5018713,essv5093481,essv5071853,essv5008247,essv5099771,essv5061919,essv5114571,essv5076368,essv5008413,essv5010667,essv5040741,essv5033294,essv5012421,essv5066936,essv5106784,essv5029777,essv5063262,essv5150080,essv5151730,essv5108111,essv5086918,essv5133130,essv5054551,essv5150847,essv5136228,essv5088149,essv5122256,essv5017165,essv5046069,essv5131109,essv5110818,essv5109843,essv5023365,essv5032751,essv5131654,essv5024372,essv5013668,essv5133991,essv5088073,essv5145078,essv5117786,essv5002148,essv5035391,essv5098620,essv5070532,essv5110878,essv5114475,essv5147829,essv5071235,essv5160271,essv5100435,essv5120255,essv5122923,essv5094301,essv5010459,essv5021087,essv5020757,essv5096397,essv5159561,essv5062614,essv5014985,essv5090000,essv5159719,essv5146892,essv5043079,essv5125063,essv5120170,essv5130832,essv5060022,essv5035078,essv5047490,essv5122482,essv5108696,essv5144575,essv5097282,essv5160238,essv5063266,essv5035025,essv5158193,essv5090841,essv5073355,essv5034935,essv5025257,essv5125165,essv5156559,essv5067455,essv5019275,essv5089538,essv5111811,essv5002634,essv5081307,essv5067204,essv5010649,essv5071288,essv5089734,essv5108686,essv5083079,essv5160674,essv5007973,essv5004815,essv5038035,essv5018886,essv5011129,essv5154764,essv5088202,essv5066263,essv5070077,essv5037042,essv5026635,essv5161033,essv5048141,essv5032629,essv5002016,essv5027401,essv5104272,essv5060579,essv5106229,essv5005097,essv5036033,essv5023677,essv5136582,essv5136118,essv5024537,essv5052532,essv5112038,essv5038202,essv5151206,essv5101952,essv5050445,essv5076616,essv5041856,essv5071094,essv5145197,essv5082252,essv5019020,essv5141511,essv5090153,essv5121223,essv5101535,essv5080642,essv5049266,essv5143040,essv5131662,essv5028668,essv5085655,essv5007482,essv5112935,essv5058391,essv5160864,essv5125851,essv5013586,essv5156263,essv5058099,essv5142387,essv5029223,essv5069547,essv5017562,essv5096415,essv5037637,essv5108421,essv5024189,essv5123595,essv5095085,essv5029761,essv5032923,essv5054896,essv5133302,essv5032154,essv5037433,essv5074052,essv5082292,essv5061914,essv5092081,essv5065723,essv5112186,essv5037784,essv5156496,essv5007716,essv5084047,essv5153910,essv5147344,essv5094747,essv5096623,essv5033193,essv5055829,essv5077776,essv5005863,essv5139221,essv5080956,essv5044070,essv5093460,essv5147014,essv5087777,essv5005919,essv5011807,essv5120118,essv5090704,essv5130241,essv5088110,essv5158887,essv5109217,essv5039759,essv5024632,essv5065065,essv5106817,essv5052254,essv5088545,essv5034435,essv5145048,essv5017487,essv5098793 M 1184 0 474 "" NA07056,NA10835,NA10853,NA11832,NA11843,NA12057,NA12155,NA12248,NA12272,NA12386,NA12399,NA12739,NA12748,NA12752,NA12760,NA17965,NA17972,NA17981,NA17983,NA17987,NA17989,NA18122,NA18129,NA18131,NA18132,NA18143,NA18147,NA18148,NA18154,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18529,NA18534,NA18537,NA18546,NA18557,NA18559,NA18562,NA18566,NA18570,NA18573,NA18576,NA18596,NA18611,NA18612,NA18621,NA18623,NA18635,NA18640,NA18641,NA18645,NA18670,NA18685,NA18694,NA18745,NA18748,NA18749,NA18757,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18860,NA18861,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18875,NA18909,NA18910,NA18911,NA18913,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18951,NA18954,NA18955,NA18956,NA18960,NA18967,NA18971,NA18974,NA18975,NA18976,NA18979,NA18980,NA18990,NA18998,NA18999,NA19009,NA19010,NA19027,NA19028,NA19035,NA19038,NA19044,NA19046,NA19054,NA19055,NA19060,NA19063,NA19065,NA19067,NA19074,NA19078,NA19079,NA19080,NA19083,NA19084,NA19085,NA19093,NA19094,NA19095,NA19097,NA19099,NA19102,NA19103,NA19107,NA19108,NA19109,NA19114,NA19115,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19138,NA19139,NA19141,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19173,NA19174,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19215,NA19224,NA19225,NA19226,NA19235,NA19237,NA19247,NA19248,NA19256,NA19258,NA19307,NA19309,NA19311,NA19313,NA19314,NA19316,NA19318,NA19321,NA19324,NA19332,NA19334,NA19346,NA19350,NA19359,NA19372,NA19373,NA19375,NA19376,NA19380,NA19383,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19403,NA19428,NA19429,NA19430,NA19434,NA19436,NA19437,NA19439,NA19443,NA19444,NA19446,NA19449,NA19451,NA19456,NA19457,NA19462,NA19467,NA19468,NA19469,NA19470,NA19625,NA19663,NA19700,NA19701,NA19702,NA19704,NA19705,NA19712,NA19713,NA19719,NA19720,NA19721,NA19722,NA19756,NA19757,NA19761,NA19770,NA19777,NA19779,NA19781,NA19782,NA19784,NA19795,NA19796,NA19818,NA19834,NA19835,NA19836,NA19900,NA19904,NA19908,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19983,NA20127,NA20277,NA20281,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20294,NA20295,NA20297,NA20301,NA20317,NA20333,NA20337,NA20340,NA20341,NA20343,NA20344,NA20346,NA20347,NA20348,NA20349,NA20350,NA20357,NA20358,NA20359,NA20360,NA20363,NA20364,NA20509,NA20512,NA20517,NA20525,NA20531,NA20535,NA20589,NA20752,NA20756,NA20774,NA20790,NA20799,NA20802,NA20818,NA20845,NA20869,NA20874,NA20875,NA20879,NA20882,NA20885,NA20887,NA20896,NA20897,NA20899,NA20901,NA20904,NA21088,NA21092,NA21109,NA21112,NA21116,NA21118,NA21123,NA21297,NA21300,NA21301,NA21308,NA21309,NA21311,NA21312,NA21313,NA21314,NA21317,NA21318,NA21333,NA21339,NA21352,NA21355,NA21356,NA21357,NA21362,NA21364,NA21365,NA21366,NA21368,NA21371,NA21381,NA21384,NA21388,NA21389,NA21390,NA21391,NA21399,NA21401,NA21402,NA21404,NA21405,NA21408,NA21414,NA21417,NA21418,NA21434,NA21438,NA21439,NA21454,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21486,NA21488,NA21489,NA21490,NA21491,NA21510,NA21512,NA21513,NA21514,NA21519,NA21520,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21578,NA21580,NA21582,NA21583,NA21596,NA21599,NA21600,NA21601,NA21613,NA21614,NA21616,NA21620,NA21632,NA21634,NA21636,NA21647,NA21648,NA21650,NA21685,NA21689,NA21717,NA21722,NA21738,NA21740,NA21741,NA21768,NA21776,NA21784,NA21825,NA21826 nsv442478 8 16251325 16251494 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2624284 8 16284320 16285873 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207671 S 1 0 1 "" NA18507 nsv890538 8 16287506 16647231 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574790 S 6533 0 1 "" IS33630 nsv890539 8 16304537 16341591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565296 S 6533 0 1 "" IS30388 nsv437605 8 16304537 16370342 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467486 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 nsv517629 8 16304537 16377598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680685,nssv658777,nssv687569,nssv685504,nssv686667,nssv687971,nssv661341,nssv690842,nssv662569,nssv675824,nssv669915,nssv662238,nssv660315,nssv670501,nssv665467,nssv662786,nssv658447,nssv669842,nssv673132,nssv667781,nssv668394,nssv681809,nssv687385,nssv688790,nssv690540,nssv689442,nssv666267,nssv660917,nssv654164,nssv670408,nssv669129,nssv690359,nssv689386,nssv687655,nssv651787,nssv655224,nssv669987,nssv664192,nssv662549,nssv674264,nssv666934,nssv672972,nssv683407,nssv653840,nssv692076,nssv654791,nssv655106,nssv676289,nssv676365,nssv686561,nssv661753,nssv664421,nssv665371,nssv673627,nssv669664,nssv681864,nssv686270,nssv681933,nssv687553,nssv671759,nssv655983,nssv685624,nssv664664,nssv688144,nssv685829,nssv668945,nssv664540,nssv655346,nssv680946,nssv658811,nssv654383,nssv674354,nssv684917,nssv661935,nssv693221,nssv657646,nssv671976,nssv660946,nssv659405,nssv677333,nssv665571,nssv663715,nssv658397,nssv668463,nssv690202,nssv666506,nssv689778,nssv656714,nssv677545,nssv661054,nssv668866,nssv654366,nssv653067,nssv661091,nssv654336,nssv664295,nssv678625,nssv673836,nssv659390,nssv655198,nssv676768,nssv671821,nssv688236,nssv692980,nssv655295,nssv657629,nssv683314,nssv681904,nssv658987,nssv667189,nssv676095,nssv692039,nssv685081,nssv653102,nssv664389,nssv685322,nssv662129,nssv682914,nssv693120,nssv669226,nssv663331,nssv682100,nssv686885,nssv690295,nssv681984,nssv654878,nssv656023,nssv658366,nssv692017,nssv685469,nssv668981,nssv689409,nssv684430,nssv653364,nssv681517,nssv664342,nssv677907,nssv686283,nssv677041,nssv673232,nssv675862,nssv673643,nssv659829,nssv680989,nssv693559,nssv666911,nssv672009,nssv659138,nssv664072,nssv690784,nssv663163,nssv656791,nssv667866,nssv689932,nssv683766,nssv676703,nssv684058,nssv682391,nssv678111,nssv680897,nssv657926,nssv681424,nssv688509,nssv681414,nssv693449,nssv693237,nssv671435 M 2026 0 167 "" nsv8301 8 16304897 16324479 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19467,nssv18972,nssv19491 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18502,NA18860,NA19132 esv28507 8 16306425 16319028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17012 S 451 0 5 "" NA18502,NA18508,NA18858,NA19114,NA19225 esv2421938 8 16306618 16319032 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051486,essv5032868,essv5039836,essv5124925,essv5073263,essv5080816,essv5004669,essv5150835,essv5095835,essv5073191,essv5041165,essv5107662,essv5139909,essv5091846,essv5101081,essv5101154,essv5153816,essv5087440,essv5064692,essv5117657,essv5115565,essv5127773,essv5017242,essv5140061,essv5040226,essv5072953,essv5055654,essv5097876,essv5159039,essv5088713,essv5033790,essv5097322,essv5070614,essv5103815,essv5008760,essv5015286,essv5135297,essv5006741,essv5094808,essv5046514,essv5147231,essv5123660,essv5115527,essv5012255,essv5126018,essv5089060,essv5103814,essv5019496,essv5051040,essv5053888,essv5010236,essv5020487,essv5015434,essv5143525,essv5056086,essv5145715,essv5136425,essv5129417,essv5059994,essv5059323,essv5022364,essv5085698,essv5041677,essv5136356,essv5104022,essv5093065,essv5105391,essv5042136,essv5087449,essv5115258,essv5021060,essv5007930,essv5004592,essv5061810,essv5095527,essv5030083,essv5128929,essv5098039,essv5089128,essv5129985,essv5062205,essv5114511,essv5049979,essv5156719,essv5024586,essv5135982,essv5116889,essv5094496,essv5008873,essv5017804,essv5133827,essv5044849,essv5139902,essv5063375,essv5157144,essv5030883,essv5082815,essv5095376,essv5045620,essv5154326,essv5140068,essv5158395,essv5084316,essv5026561,essv5100581,essv5062293,essv5128592,essv5004681,essv5022957,essv5006523,essv5073652,essv5156221,essv5055459,essv5123174,essv5071076,essv5100982,essv5026488,essv5083253,essv5150639,essv5091687,essv5073959,essv5089176,essv5080568,essv5123087,essv5052132 M 1184 0 125 "" NA07056,NA10835,NA10853,NA11832,NA11843,NA12057,NA12248,NA12272,NA12386,NA12399,NA12739,NA12748,NA12752,NA12760,NA12864,NA12873,NA18485,NA18489,NA18508,NA18858,NA18859,NA18860,NA19028,NA19041,NA19044,NA19114,NA19115,NA19122,NA19123,NA19130,NA19132,NA19140,NA19141,NA19142,NA19153,NA19154,NA19182,NA19183,NA19189,NA19204,NA19225,NA19307,NA19314,NA19318,NA19347,NA19359,NA19371,NA19372,NA19374,NA19375,NA19376,NA19380,NA19448,NA19449,NA19463,NA19467,NA19472,NA19473,NA19663,NA19719,NA19908,NA20289,NA20300,NA20340,NA20509,NA20512,NA20517,NA20525,NA20531,NA20589,NA20752,NA20756,NA20774,NA20799,NA20801,NA20802,NA20818,NA20874,NA21302,NA21303,NA21308,NA21309,NA21313,NA21317,NA21333,NA21362,NA21363,NA21371,NA21381,NA21383,NA21384,NA21388,NA21389,NA21390,NA21391,NA21415,NA21424,NA21436,NA21438,NA21439,NA21473,NA21475,NA21479,NA21488,NA21490,NA21510,NA21512,NA21513,NA21514,NA21519,NA21526,NA21528,NA21576,NA21580,NA21582,NA21583,NA21596,NA21600,NA21611,NA21615,NA21632,NA21650,NA21717,NA21722,NA21741 nsv442481 8 16306635 16319032 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818610 8 16306880 16312873 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416254,nssv1415817,nssv1415806,nssv1415662,nssv1415828,nssv1415663 M 112 0 6 "" NA10835,NA12057,NA12248,NA19140,NA19141,NA19142 nsv514479 8 16306935 16318686 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627940 S 1414 0 1 "" nsv438044 8 16311380 16314838 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469768,nssv469767 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19204,NA19205 nsv8303 8 16325867 16333733 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17728 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 dgv250e55 8 16330262 16932710 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34322,esv34335 M 771 2 0 EFHA2,FGF20 NA12802,NA12814 nsv8304 8 16330605 16934028 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21000,nssv19521,nssv16060,nssv17317 M 31 2 2 Samples from several populations that are part of the HapMap project. EFHA2,FGF20 NA11830,NA12802,NA18860,NA19221 dgv7735n71 8 16341591 16469044 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890540,nsv890541 M 6533 0 2 "" IS36727,IS39011 esv21734 8 16366558 16370954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13709 S 451 0 4 "" NA18861,NA18907,NA19099,NA19225 nsv442100 8 16367417 16371014 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv514480 8 16369958 16370698 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627941 S 1414 0 1 "" nsv470196 8 16377598 16445354 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546692 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01388 dgv7736n71 8 16382006 16460780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890542,nsv890546,nsv890545,nsv890543,nsv890544 M 6533 0 7 "" IS30899,IS35114,IS35229,IS39119,IS41043,MS19634,MS22104 essv14679 8 16387088 16428215 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19145 dgv7737n71 8 16411393 16453478 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890548,nsv890547 M 6533 0 2 "" SP50144,SP56172 nsv471804 8 16428544 16428875 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646085 M 0.064 95 "" nsv824555 8 16441431 16441908 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429936 S 31 1 0 "" AK14 dgv1173n67 8 16441510 16442532 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824556,nsv824557 M 31 2 0 "" AK10,AK2 nsv526068 8 16453478 16509140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702308 S 2026 0 1 "" esv2752244 8 16469779 16567300 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989787,essv6983410 M 771 0 1 "" BEC_649 nsv521521 8 16479945 16582762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698139 S 2026 0 1 "" nsv890549 8 16479945 16631139 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524977 S 6533 1 0 "" SP55417 nsv890550 8 16489096 16579753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508418 S 6533 0 1 "" SP54657 nsv465584 8 16492939 16569399 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541371 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00630 nsv470197 8 16505851 16600404 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546696,nssv546694,nssv546695,nssv546693 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00624,HGDP00630,HGDP00643,HGDP00648 nsv890551 8 16509140 16631139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540156 S 6533 0 1 "" MS14717 nsv465585 8 16523131 16620928 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541372 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00643 nsv824558 8 16525124 16525574 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432176 S 31 0 1 "" AK20 nsv435871 8 16537106 16544366 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466446 S 2 0 1 "" NA15510 nsv465586 8 16554923 16565923 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541373 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00648 nsv890552 8 16571329 16844114 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507844 S 6533 1 0 "" SP54657 esv2164681 8 16590930 16591430 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670552 S 1 0 1 "" NA18507 esv4685 8 16591078 16591277 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27126 S 1 0 1 Single Asian sample YH "" YH esv997474 8 16591133 16591232 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570101 S 3 0 1 "" HuRef esv1605863 8 16591134 16591234 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3969137 S 2 0 1 "" HuRef nsv398357 8 16591135 16591234 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416935 M 24 "" esv1153040 8 16609109 16609169 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821318 S 2 0 1 "" HuRef esv1619777 8 16609424 16609424 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732764 S 2 1 0 "" HuRef esv1016410 8 16609843 16609951 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3934523 S 2 0 1 "" HuRef esv1006000 8 16609899 16609950 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585867 S 3 0 1 "" HuRef nsv6093 8 16640572 16656075 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8467 S 9 0 1 "" NA12156 esv2752245 8 16715581 16857752 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988808,essv6984468,essv6984469,essv6984470 M 771 1 0 "" BEC_708 esv2176314 8 16730099 16730544 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834972 S 1 0 1 "" NA18507 nsv396749 8 16730296 16730347 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415327 M 24 "" esv1009958 8 16730297 16730348 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576130 S 3 0 1 "" HuRef esv1227458 8 16730309 16730361 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151849 S 2 0 1 "" HuRef nsv6094 8 16758466 16766174 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8468 S 9 0 1 "" NA12156 nsv6095 8 16797000 16842237 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8469 S 9 0 1 "" NA12156 nsv831243 8 16801855 17013749 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446942 S 95 1 0 EFHA2,FGF20 nsv465587 8 16813187 16870668 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541374 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01365 nsv522966 8 16816208 16819341 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698636 S 2026 0 1 "" nsv890553 8 16816208 16875305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550411 S 6533 1 0 "" MS18431 esv28750 8 16832931 16866669 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11785,esv10534,esv10929 M 451 3 0 "" NA18517,NA19099,NA19257 nsv6096 8 16854548 16889221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2781 S 9 1 0 "" NA18555 nsv470198 8 16857203 16870668 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546697 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01365 nsv524384 8 16857203 16870668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700301 S 2026 0 1 "" esv5055 8 16866220 16866788 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27496 S 1 0 1 Single Asian sample YH "" YH nsv396495 8 16866251 16866620 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415073 M 24 "" nsv507444 8 16876533 16882533 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621905 S 4 1 0 "" NA10860 nsv395865 8 16913140 16913140 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414443 M 24 "" esv271341 8 16915610 16915921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493281,essv2494739,essv2506023,essv2505740,essv2513421,essv2507415,essv2495673,essv2506838,essv2510882,essv2497603,essv2510488 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18519,NA18523,NA18861,NA18907,NA18912,NA18916,NA19102,NA19116,NA19147,NA19172 nsv890554 8 16951496 17004912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562504 S 6533 0 1 EFHA2 MS25617 esv6985 8 16963095 16963178 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29426 S 1 1 0 EFHA2 SJK esv1983650 8 17006389 17007105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570805 S 1 0 1 EFHA2 NA18507 nsv396389 8 17006594 17006915 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414967 M 24 EFHA2 esv5842 8 17006595 17006920 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28283 S 1 0 1 EFHA2 SJK nsv831244 8 17007797 17172590 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446943 S 95 1 0 CNOT7,EFHA2,VPS37A,ZDHHC2 esv268699 8 17015575 17015889 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515963 S 157 1 0 Samples from several populations that are part of the HapMap project. EFHA2 NA12873 dgv242n6 8 17029356 17029421 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396900,nsv396194 M 24 "" esv1010497 8 17029359 17029419 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573501 S 3 0 1 "" HuRef esv1048267 8 17029360 17029421 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638960 S 2 0 1 "" HuRef nsv516091 8 17038314 17040806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667952,nssv666141 M 2026 0 2 "" nsv890555 8 17095110 17125072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515465 S 6533 0 1 ZDHHC2 SP56200 esv1030364 8 17101448 17101534 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021454 S 2 0 1 ZDHHC2 HuRef nsv831245 8 17157454 17352779 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446944 S 95 1 0 MTMR7,VPS37A nsv890556 8 17179658 17388520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499366 S 6533 0 1 MTMR7,VPS37A SP50521 nsv518761 8 17199032 17199803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696211 S 2026 0 1 MTMR7,VPS37A nsv890557 8 17210139 17291682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547261,nssv1557700 M 6533 0 2 MTMR7 MS17275,MS22809 nsv465588 8 17237382 17252904 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541375 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTMR7 HGDP01012 esv270628 8 17248514 17248599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513996,essv2518319 M 157 2 0 Samples from several populations that are part of the HapMap project. MTMR7 NA19143,NA19240 esv272688 8 17248514 17248599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581432,essv2581300 M 7 2 0 Samples from several populations that are part of the HapMap project. MTMR7 NA12878,NA19240 nsv470200 8 17252904 17348578 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546700 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTMR7 HGDP00905 nsv465589 8 17257500 17348578 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541376 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTMR7 HGDP00905 nsv465590 8 17263000 17390156 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541377 S 1557 0 1 MTMR7 1780854487_A esv6536 8 17302142 17306405 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28977 S 1 0 0 MTMR7 SJK nsv6097 8 17306535 17334018 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5063 S 9 1 0 MTMR7 NA19129 esv4778 8 17309941 17310427 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27219 S 1 0 1 Single Asian sample YH MTMR7 YH esv8254 8 17309985 17310294 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30695 S 1 0 1 MTMR7 SJK nsv396808 8 17309987 17310310 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415386 M 24 MTMR7 nsv516180 8 17326782 17443528 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697890,nssv684286,nssv666663,nssv676769,nssv682529,nssv682614 M 2026 0 6 SLC7A2 nsv831246 8 17332243 17522874 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446945 S 95 1 0 PDGFRL,SLC7A2 dgv2224e1 8 17335551 17685810 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1536,essv3157,esv538,esv797 M 271 0 0 MTUS1,PDGFRL,SLC7A2 NA19012 esv28716 8 17354333 17359958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18877 S 451 0 1 "" NA18523 esv1009744 8 17361309 17372668 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564448 S 3 0 1 "" HuRef esv994658 8 17375837 17377778 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586666 S 3 0 1 "" HuRef esv271474 8 17380356 17380691 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521147,essv2550719,essv2520707,essv2537288,essv2547072,essv2540161,essv2569459,essv2578729,essv2550207,essv2558799,essv2537137,essv2538901,essv2561628,essv2560079,essv2531198,essv2532687,essv2566775,essv2539464,essv2534027,essv2529817,essv2575014,essv2526723,essv2524060,essv2574561,essv2551564 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12155,NA12716,NA12878,NA12892,NA18489,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18523,NA18570,NA18573,NA18576,NA18853,NA18912,NA18916,NA19093,NA19102,NA19114,NA19129,NA19138,NA19257 esv272178 8 17380358 17380529 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583923,essv2583587 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv396222 8 17385277 17394787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414800 M 24 "" esv34867 8 17390390 17627431 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987381,essv6987382,essv6978388,essv6978387,essv6978386 M 771 0 1 MTUS1,PDGFRL,SLC7A2 NA19012 nsv507445 8 17406220 17412220 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623030,nssv620405,nssv621906 M 4 3 0 SLC7A2 NA10860,NA15510,NA18994 nsv8305 8 17434174 17436248 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19002 S 31 0 1 Samples from several populations that are part of the HapMap project. SLC7A2 NA18502 nsv831247 8 17443477 17603707 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446946 S 95 1 0 MTUS1,PDGFRL,SLC7A2 nsv890558 8 17467339 17497458 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520149 S 6533 0 1 PDGFRL,SLC7A2 SP50709 esv989082 8 17469335 17479613 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564967 S 3 0 1 PDGFRL,SLC7A2 HuRef nsv8306 8 17480098 17491197 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16850 S 31 0 1 Samples from several populations that are part of the HapMap project. PDGFRL NA18853 essv13812 8 17480455 17493999 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PDGFRL NA18853 nsv516988 8 17482709 17490705 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653558,nssv675036 M 2026 0 2 PDGFRL nsv818612 8 17482709 17490705 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417891 S 112 0 1 PDGFRL NA18853 nsv824559 8 17524746 17525909 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423540 S 31 0 1 PDGFRL NA18999 nsv516779 8 17528538 17536010 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685082,nssv696745,nssv692790,nssv657466,nssv701804,nssv686271,nssv698053,nssv670767 M 2026 6 2 PDGFRL nsv831249 8 17545905 17740558 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446948,nssv1446947 M 95 0 2 MTUS1 nsv8307 8 17560553 17567168 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16975 S 31 0 1 Samples from several populations that are part of the HapMap project. MTUS1 NA18980 nsv510133 8 17575645 17581645 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622155 S 4 0 1 MTUS1 NA10860 nsv890559 8 17581929 17656166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590132 S 6533 0 1 MTUS1 IS38463 dgv2225e1 8 17585213 17599309 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7945,essv15915 M 271 0 0 MTUS1 NA19203,NA19205 nsv512032 8 17609486 17612224 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624581 S 1 0 1 MTUS1 1 nsv516696 8 17623070 17625980 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675841,nssv675589,nssv691530,nssv670442,nssv654350,nssv654145,nssv689617,nssv655743,nssv680253,nssv663869,nssv680270,nssv693537,nssv664374,nssv689639,nssv678362,nssv689443,nssv680217,nssv688649,nssv674799,nssv681727,nssv674244,nssv669586,nssv653375,nssv684810,nssv668364,nssv681660,nssv692229,nssv684431,nssv659105,nssv665087,nssv674226,nssv683548,nssv684175,nssv673742,nssv672689,nssv677826,nssv680607,nssv659566,nssv683094,nssv681961,nssv685954,nssv674598,nssv688710,nssv679789,nssv655927,nssv664491,nssv684741,nssv677485,nssv691707,nssv673358,nssv687063,nssv690988,nssv657867,nssv688095,nssv660876,nssv672647,nssv691199,nssv660295,nssv685933,nssv656940,nssv691545,nssv658745,nssv682973,nssv659695,nssv677665,nssv665028,nssv654367,nssv675613,nssv687680,nssv679914,nssv675323,nssv666268,nssv688116,nssv658583,nssv685277,nssv693303,nssv678544,nssv692161,nssv670974,nssv675533,nssv656625,nssv690906 M 2026 0 82 MTUS1 nsv821096 8 17624824 17626273 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420751 S 1 0 1 MTUS1 NA10851 nsv471727 8 17624833 17626145 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646008 M 0.125 95 MTUS1 esv23139 8 17624937 17626103 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11959 S 451 34 0 MTUS1 NA06985,NA07037,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv819748 8 17624976 17626264 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419224 S 2 1 0 MTUS1 AK1 nsv514481 8 17625000 17626044 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627942 S 1414 0 1 MTUS1 nsv818613 8 17625071 17625980 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418380 S 112 0 1 MTUS1 NA12146 esv2421533 8 17625071 17626417 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5017358,essv5140453,essv5080359,essv5092579,essv5152092,essv5147432,essv5063745,essv5064320,essv5061554,essv5063045,essv5004868,essv5130895,essv5010161,essv5086420,essv5074256,essv5101504,essv5007219,essv5074975,essv5108872,essv5089444,essv5124705 M 1184 0 21 MTUS1 NA06997,NA07000,NA07045,NA11995,NA12056,NA12146,NA12348,NA12775,NA12875,NA19669,NA19716,NA19718,NA19782,NA20538,NA20581,NA20796,NA20805,NA20806,NA21116,NA21682,NA21768 nsv526978 8 17625071 17626684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703350 S 2026 0 1 MTUS1 nsv831250 8 17639027 17792121 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446949 S 95 0 1 FGL1,MTUS1 nsv6098 8 17648443 17679837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3631 S 9 1 0 MTUS1 NA12878 nsv8308 8 17671619 17674881 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16832,nssv17859,nssv18541,nssv19453,nssv16667 M 31 5 0 Samples from several populations that are part of the HapMap project. MTUS1 NA07029,NA12740,NA18504,NA18563,NA19240 esv2605243 8 17697339 17698255 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243011 S 1 1 0 MTUS1 NA18507 esv1696170 8 17721204 17721334 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955859 S 2 0 1 "" HuRef nsv398098 8 17721524 17721604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416676 M 24 "" esv1662718 8 17721923 17721995 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642526 S 2 0 1 "" HuRef nsv396279 8 17721924 17721995 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414857 M 24 "" nsv890560 8 17759069 17768917 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506590 S 6533 0 1 FGL1 SP54381 nsv890561 8 17763849 17766895 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503518 S 6533 0 1 FGL1 SP52077 nsv890562 8 17768134 17776194 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505281 S 6533 1 0 FGL1 SP53347 nsv890563 8 17768341 17774618 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514513 S 6533 0 1 FGL1 SP56007 nsv890564 8 17770696 17773359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503507 S 6533 0 1 FGL1 SP52077 nsv890565 8 17772723 17774903 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507273 S 6533 0 1 FGL1 SP54516 dgv7738n71 8 17772723 17777050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890567,nsv890566 M 6533 0 3 FGL1 SP53601,SP54381,SP57367 nsv890568 8 17773017 17776530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503557 S 6533 1 0 FGL1 SP52077 dgv7739n71 8 17776385 17779059 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890570,nsv890569 M 6533 0 2 FGL1 SP52077,SP54381 nsv890571 8 17777050 17781127 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500328 S 6533 0 1 FGL1 SP50116 nsv890572 8 17777050 17781637 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516060 S 6533 1 0 FGL1 SP56385 esv1981831 8 17777072 17777592 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648648 S 1 0 1 FGL1 NA18507 esv3690 8 17777258 17777461 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26131 S 1 0 1 Single Asian sample YH FGL1 YH esv999314 8 17777271 17777377 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579083 S 3 0 1 FGL1 HuRef nsv397275 8 17777273 17777378 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415853 M 24 FGL1 esv1091529 8 17777299 17777405 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158256 S 2 0 1 FGL1 HuRef nsv890573 8 17778491 17787209 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503558 S 6533 1 0 FGL1 SP52077 nsv890574 8 17780151 17782082 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509429 S 6533 0 1 FGL1 SP54790 esv24172 8 17781680 17782521 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16418 S 451 0 2 FGL1 NA18916,NA19225 nsv890575 8 17781705 17782521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506592 S 6533 0 1 FGL1 SP54381 nsv890576 8 17781705 17786327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502636 S 6533 0 1 FGL1 SP51307 dgv7740n71 8 17782926 17786144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890577,nsv890579 M 6533 0 2 FGL1 SP50025,SP53601 nsv890578 8 17782926 17791992 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514514 S 6533 0 1 FGL1 SP56007 esv1120408 8 17784741 17784741 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187850 S 2 1 0 FGL1 HuRef esv1012336 8 17784904 17784904 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3882566 S 2 1 0 FGL1 HuRef dgv7741n71 8 17793377 17796966 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890581,nsv890585 M 6533 0 2 FGL1 SP56004,SP57367 dgv7742n71 8 17793377 17797110 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890582,nsv890580 M 6533 2 0 FGL1 SP55074,SP56079 dgv7743n71 8 17793377 17798505 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890583,nsv890584 M 6533 0 2 FGL1 SP50144,SP54516 nsv890586 8 17794148 17797937 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505282 S 6533 1 0 FGL1 SP53347 dgv7744n71 8 17794148 17798152 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890587,nsv890589 M 6533 0 2 FGL1 SP50025,SP57314 dgv7745n71 8 17794510 17797234 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890590,nsv890588 M 6533 2 0 FGL1 SP51460,SP54750 esv24086 8 17794520 17796609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18576,esv17465 M 451 0 3 FGL1 NA18909,NA19147,NA19240 nsv824560 8 17795304 17796586 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440460 S 31 0 1 FGL1 NA18564 esv2421689 8 17795520 17796439 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5064517,essv5003559,essv5021788,essv5149892,essv5132826,essv5137208,essv5024724,essv5061582,essv5087496,essv5058495,essv5137443,essv5006899,essv5016366,essv5068415,essv5093690,essv5006654,essv5016542,essv5090193,essv5016070,essv5014031,essv5059121,essv5029051,essv5076771,essv5151086,essv5065453,essv5077131,essv5039020,essv5149229,essv5102288,essv5065701,essv5003381,essv5015007,essv5008970,essv5160790,essv5078290,essv5055526,essv5116372,essv5023702,essv5133065,essv5110361,essv5055881,essv5086856,essv5101636,essv5113661,essv5132960,essv5109947,essv5116669,essv5062071,essv5145396,essv5075719,essv5131603,essv5059486,essv5097114,essv5090121,essv5002819,essv5112331,essv5010677,essv5046554,essv5130247,essv5059823,essv5119080,essv5130770,essv5135598,essv5102373,essv5036847,essv5040401,essv5037335,essv5032679,essv5122632,essv5048718,essv5034524,essv5059924,essv5086847,essv5131664,essv5097687,essv5106118,essv5049306,essv5053855,essv5153998,essv5017345,essv5032778,essv5032302,essv5132316,essv5021509,essv5118887,essv5034132,essv5040248,essv5068671,essv5014058,essv5156709,essv5099303,essv5013630,essv5064044,essv5023358,essv5145270,essv5025573,essv5159846,essv5132693,essv5068372,essv5138952,essv5005197,essv5054510,essv5028452,essv5040449,essv5157659,essv5159347,essv5002829,essv5010586,essv5087810,essv5111637,essv5026437,essv5022239,essv5128747,essv5104848,essv5132053,essv5146464,essv5011451,essv5092742,essv5035007,essv5093903,essv5008932,essv5061874,essv5130732,essv5029091,essv5003454,essv5041238,essv5043226,essv5141561,essv5155736,essv5158495,essv5011854,essv5031882,essv5160687,essv5069614,essv5132644,essv5148696,essv5003224,essv5018798,essv5060922,essv5111184,essv5016686,essv5082952,essv5046741,essv5024861,essv5014934,essv5103886,essv5112522,essv5100517,essv5158369,essv5120294,essv5079881,essv5107839,essv5031931,essv5013801,essv5075263,essv5157952,essv5037644,essv5081789,essv5031601,essv5075762,essv5114524,essv5055620,essv5136282,essv5124640,essv5027612,essv5112025,essv5031773,essv5062953,essv5005852,essv5035235,essv5097953,essv5154667,essv5051357,essv5071559,essv5029427,essv5047880,essv5128520,essv5025156,essv5069639,essv5069617,essv5111470,essv5117788,essv5034137,essv5149297,essv5026273,essv5119956,essv5065298,essv5068270,essv5072450,essv5158538,essv5089330,essv5051598,essv5106732,essv5151948,essv5110898,essv5087838,essv5050060,essv5029363,essv5085364,essv5159784,essv5043459,essv5122544,essv5112851,essv5068823,essv5139456,essv5077547 M 1184 0 206 FGL1 NA07031,NA10856,NA11881,NA11894,NA12146,NA12283,NA12286,NA12708,NA12718,NA12775,NA17997,NA18125,NA18134,NA18484,NA18485,NA18487,NA18488,NA18499,NA18509,NA18515,NA18516,NA18520,NA18537,NA18619,NA18868,NA18870,NA18874,NA18909,NA18911,NA18933,NA18934,NA18935,NA19035,NA19098,NA19113,NA19114,NA19115,NA19116,NA19119,NA19120,NA19122,NA19128,NA19130,NA19137,NA19139,NA19146,NA19147,NA19148,NA19153,NA19172,NA19176,NA19179,NA19184,NA19185,NA19186,NA19189,NA19191,NA19193,NA19197,NA19201,NA19204,NA19209,NA19214,NA19215,NA19221,NA19223,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19308,NA19310,NA19314,NA19332,NA19371,NA19377,NA19379,NA19380,NA19381,NA19383,NA19384,NA19390,NA19394,NA19398,NA19399,NA19403,NA19404,NA19428,NA19434,NA19435,NA19439,NA19444,NA19446,NA19449,NA19452,NA19456,NA19462,NA19463,NA19466,NA19467,NA19468,NA19471,NA19474,NA19701,NA19702,NA19704,NA19705,NA19712,NA19725,NA19727,NA19746,NA19748,NA19750,NA19775,NA19779,NA19781,NA19788,NA19790,NA19819,NA19828,NA19900,NA19901,NA19902,NA19904,NA19908,NA19914,NA19915,NA19917,NA19919,NA19982,NA20127,NA20277,NA20281,NA20282,NA20284,NA20287,NA20288,NA20291,NA20292,NA20294,NA20295,NA20297,NA20300,NA20301,NA20302,NA20346,NA20348,NA20357,NA20358,NA20363,NA20364,NA20504,NA20509,NA20512,NA20786,NA20845,NA20858,NA20877,NA20884,NA20894,NA20906,NA21089,NA21297,NA21300,NA21316,NA21317,NA21357,NA21368,NA21414,NA21420,NA21424,NA21425,NA21434,NA21436,NA21441,NA21442,NA21473,NA21478,NA21479,NA21480,NA21489,NA21494,NA21519,NA21522,NA21573,NA21574,NA21578,NA21587,NA21596,NA21597,NA21600,NA21601,NA21613,NA21632,NA21647,NA21648,NA21682,NA21686,NA21693,NA21716,NA21741,NA21776 esv22580 8 17806552 17807927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11915 S 451 0 1 "" NA18907 esv268574 8 17813165 17813497 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498539 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18858 dgv7746n71 8 17831098 17889727 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890593,nsv890591 M 6533 0 2 PCM1 IS35181,IS39923 nsv890592 8 17837364 17862718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567593 S 6533 0 1 PCM1 IS31123 nsv890594 8 17837364 17905077 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581999 S 6533 0 1 PCM1 IS35771 nsv524215 8 17852008 17895528 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700102 S 2026 1 0 PCM1 nsv890595 8 17863852 17923672 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513027 S 6533 1 0 PCM1 SP55670 nsv522647 8 17881369 18216291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706047 S 2026 0 1 ASAH1,NAT1,PCM1 nsv820215 8 17958239 17958695 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418961 S 2 0 1 ASAH1 AK1 nsv890596 8 17959163 17969290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517815 S 6533 0 1 ASAH1 SP57376 esv2511529 8 17986898 17988061 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340799 S 1 1 0 "" NA18507 esv273354 8 17987378 17987463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581083 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv269046 8 17987383 17987720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521391,essv2556542,essv2576788,essv2537582,essv2530489,essv2540187,essv2557452,essv2552516,essv2569537,essv2578578,essv2550215,essv2569628,essv2538421,essv2524468,essv2566727,essv2543443,essv2528163,essv2555790,essv2575107,essv2560697,essv2560844,essv2551259 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11994,NA12154,NA12878,NA18486,NA18489,NA18499,NA18502,NA18508,NA18510,NA18511,NA18520,NA18547,NA18555,NA18853,NA18870,NA18907,NA18945,NA19102,NA19116,NA19137,NA19257 esv2157284 8 17995216 17995628 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723525 S 1 0 1 "" NA18507 esv275393 8 18026179 18028211 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586144,essv2585689 M 1250 1 1 "" nsv890597 8 18064976 18192295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578370 S 6533 1 0 NAT1 IS34762 nsv890598 8 18095943 18282666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514604 S 6533 0 1 NAT1 SP56029 nsv890599 8 18117126 18184913 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556807 S 6533 1 0 NAT1 MS22179 nsv831251 8 18118158 18165009 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446952,nssv1446951,nssv1446953 M 95 0 3 NAT1 nsv428196 8 18121615 18444167 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451472 S 62 1 0 NAT1,NAT2,PSD3 HGDP01093 nsv517813 8 18126109 18158843 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695218 S 2026 1 0 "" nsv523339 8 18151237 18153536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699085 S 2026 0 1 "" esv24749 8 18168401 18172702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12812 S 451 0 1 "" NA18907 nsv890600 8 18192295 18257211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550412 S 6533 1 0 "" MS18431 nsv890601 8 18192295 18290944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600579,nssv1599928 M 6533 0 2 "" IS41809,IS41898 dgv7747n71 8 18235202 18297035 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890602,nsv890603 M 6533 0 2 NAT2 IS30398,IS37860 nsv831252 8 18249282 18450077 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446954 S 95 1 0 NAT2,PSD3 nsv520137 8 18253559 18254256 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679455,nssv661092 M 2026 0 2 "" nsv890604 8 18260018 18291729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515281 S 6533 1 0 "" SP56144 nsv518655 8 18261938 18287748 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696103 S 2026 0 1 "" nsv890605 8 18292193 18454168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535203 S 6533 0 1 NAT2,PSD3 MS12071 nsv890606 8 18351441 18449117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525960 S 6533 1 0 PSD3 SP56904 nsv510134 8 18382839 18388839 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624059,nssv621329 M 4 0 2 "" NA15510,NA18994 nsv890607 8 18449117 18826327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533954 S 6533 1 0 PSD3 MS11338 esv1011194 8 18490323 18496579 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565248 S 3 0 1 PSD3 HuRef nsv521053 8 18493921 18513631 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697363,nssv696164,nssv683732,nssv680847 M 2026 4 0 PSD3 esv1416189 8 18495934 18496139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888402 S 2 0 1 PSD3 HuRef esv989363 8 18498481 18505608 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564934 S 3 0 1 PSD3 HuRef esv2190840 8 18498724 18500423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888891 S 1 0 1 PSD3 NA18507 esv2531026 8 18498753 18501013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358229 S 1 0 1 PSD3 NA18507 nsv512033 8 18498844 18500516 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624582 S 1 0 1 PSD3 1 esv5427 8 18498863 18500297 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27868 S 1 0 1 Single Asian sample YH PSD3 YH esv6653 8 18498897 18500229 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29094 S 1 0 1 PSD3 SJK esv1660982 8 18498900 18500233 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320021 S 2 0 1 PSD3 HuRef nsv519382 8 18516140 18519445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655766,nssv656530,nssv691592 M 2026 0 3 PSD3 nsv521368 8 18519445 18523467 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694439 S 2026 0 1 PSD3 nsv507446 8 18545955 18551955 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620406 S 4 1 0 PSD3 NA15510 nsv890608 8 18561306 18584048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550413 S 6533 1 0 PSD3 MS18431 nsv525714 8 18598978 18604967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701876 S 2026 0 1 PSD3 nsv890609 8 18602265 18646634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549012 S 6533 1 0 PSD3 MS17974 nsv518488 8 18609292 18617744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694241 S 2026 0 1 PSD3 nsv520348 8 18656744 18656892 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688625,nssv663098 M 2026 0 2 PSD3 esv2509063 8 18661349 18662265 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177584 S 1 1 0 PSD3 NA18507 esv269987 8 18661725 18662062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540810,essv2546527,essv2545295,essv2577269,essv2578020,essv2564171,essv2528305,essv2547027,essv2540189,essv2520822,essv2557531,essv2556970,essv2552448,essv2551732,essv2562793,essv2569474,essv2558858,essv2561666,essv2523692,essv2552785,essv2540427,essv2524646,essv2534586,essv2561258,essv2549131,essv2559983,essv2566217,essv2531173,essv2532706,essv2567695,essv2567498,essv2541533,essv2553500,essv2572368,essv2559287,essv2551004,essv2543495,essv2556337,essv2527896,essv2562533,essv2539439,essv2533852,essv2573181,essv2566592,essv2573865,essv2527424,essv2556026,essv2522585,essv2576993,essv2575256,essv2538846,essv2524270,essv2574945,essv2568789,essv2545068,essv2560351,essv2571156,essv2545998,essv2574139,essv2551537,essv2537920,essv2533178,essv2524765 M 157 63 0 Samples from several populations that are part of the HapMap project. PSD3 NA07000,NA07051,NA07357,NA11831,NA11881,NA12003,NA12043,NA12761,NA12828,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18507,NA18508,NA18516,NA18523,NA18537,NA18542,NA18552,NA18555,NA18561,NA18562,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18605,NA18609,NA18638,NA18858,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18942,NA18948,NA18951,NA18952,NA18956,NA18960,NA18970,NA19102,NA19108,NA19129,NA19138,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv273886 8 18661725 18662062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581921,essv2582652,essv2582874,essv2584771,essv2583792 M 7 5 0 Samples from several populations that are part of the HapMap project. PSD3 NA12878,NA12891,NA12892,NA19239,NA19240 nsv512034 8 18695189 18697206 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624583 S 1 0 1 PSD3 1 esv5150 8 18695702 18696774 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27591 S 1 0 1 Single Asian sample YH PSD3 YH esv998126 8 18695731 18696704 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573951 S 3 0 1 PSD3 HuRef esv5821 8 18695734 18696702 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28262 S 1 0 1 PSD3 SJK nsv6100 8 18707740 18734877 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1722 S 9 1 0 PSD3 NA18555 nsv527228 8 18720801 18722837 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703628 S 2026 0 1 PSD3 nsv397362 8 18723509 18723663 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415940 M 24 PSD3 nsv519028 8 18749712 18767840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696497 S 2026 0 1 PSD3 nsv831253 8 18750693 18942661 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446955 S 95 1 0 PSD3 nsv519244 8 18764904 18767840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694071 S 2026 0 1 PSD3 esv997949 8 18767039 18767088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584080 S 3 0 1 PSD3 HuRef esv1270304 8 18767039 18767089 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269160 S 2 0 1 PSD3 HuRef dgv7748n71 8 18793400 19319073 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890610,nsv890614 M 6533 2 0 CSGALNACT1,LOC100128993,PSD3,SH2D4A MS11338,MS17974 nsv465596 8 18796873 19034015 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541379 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSD3 HGDP01405 dgv7749n71 8 18800898 19031241 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890613,nsv890611 M 6533 2 0 PSD3 IS40416,MS11537 nsv470201 8 18821286 19034015 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546701 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PSD3 HGDP01405 nsv831254 8 18825099 19049408 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446956 S 95 1 0 PSD3 nsv890612 8 18845494 18905763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553277 S 6533 0 1 PSD3 MS19891 nsv831255 8 18849188 19004478 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446957 S 95 1 0 PSD3 esv25125 8 18857976 18858591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12923 S 451 0 2 PSD3 NA18907,NA19129 nsv8309 8 18888908 18892596 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16282 S 31 0 1 Samples from several populations that are part of the HapMap project. PSD3 NA18942 nsv526122 8 18891044 18905763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702372 S 2026 0 1 PSD3 essv8009 8 18893788 18914629 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PSD3 NA19221 nsv8310 8 18894422 18910298 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16494,nssv16235,nssv16697,nssv16984,nssv17526,nssv17478,nssv17347,nssv19943,nssv16312,nssv17889,nssv16496,nssv16880,nssv21030 M 31 0 13 Samples from several populations that are part of the HapMap project. PSD3 NA10839,NA10847,NA10863,NA11830,NA12740,NA18563,NA18564,NA18853,NA18942,NA18972,NA18975,NA19007,NA19221 nsv442101 8 18895819 18903101 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PSD3 nsv514482 8 18895954 18902304 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627943 S 1414 0 1 PSD3 esv2421371 8 18898071 18903101 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5010328,essv5096757,essv5097984,essv5069010,essv5108403,essv5028894,essv5073548,essv5070325,essv5095977,essv5027404,essv5026983,essv5122958,essv5150285,essv5066765,essv5034075,essv5024743,essv5113034,essv5069829,essv5042512,essv5112926,essv5145835,essv5063586,essv5110560,essv5026032,essv5024243,essv5013536,essv5113352,essv5140705,essv5088147,essv5077004,essv5003188 M 1184 0 31 PSD3 NA10863,NA12234,NA19221,NA19222,NA19324,NA19429,NA19438,NA19445,NA19448,NA19452,NA19469,NA19474,NA19703,NA19705,NA19726,NA20277,NA20589,NA20771,NA20910,NA21098,NA21111,NA21318,NA21362,NA21434,NA21457,NA21574,NA21575,NA21580,NA21600,NA21632,NA21683 dgv878n27 8 18898220 18905763 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465598,nsv465597 M 1557 0 2 PSD3 HGDP00096,HGDP00650 nsv517395 8 18898220 18905763 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670574,nssv679014,nssv666406,nssv680947,nssv655848,nssv691732,nssv652038,nssv668603,nssv681135,nssv668284,nssv680135,nssv663201,nssv669697,nssv662895,nssv680808,nssv676626,nssv668778,nssv671677,nssv686752,nssv658357,nssv668365,nssv671902,nssv676601,nssv688779,nssv675751,nssv654510,nssv678681,nssv657449,nssv651896,nssv678411,nssv662479,nssv656751 M 2026 0 32 PSD3 nsv818614 8 18898220 18905763 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417727,nssv1417738 M 112 0 2 PSD3 NA10863,NA12234 nsv519585 8 18898220 18933089 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696935 S 2026 0 1 PSD3 esv32805 8 18899978 18902243 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98021 S 51 1 0 PSD3 22259 essv14002 8 18900123 18924134 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PSD3 NA19222 nsv6101 8 18945870 18977416 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10612 S 9 1 0 "" NA18956 nsv522185 8 18999082 20399593 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694958 S 2026 1 0 ATP6V1B2,CSGALNACT1,INTS10,LOC100128993,LPL,LZTS1,SH2D4A,SLC18A1 esv2208813 8 19003915 19004265 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4682750 S 1 0 1 "" NA18507 nsv528088 8 19025993 19029391 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704624 S 2026 0 1 "" dgv7750n71 8 19034015 19242089 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890616,nsv890615 M 6533 2 0 LOC100128993,SH2D4A IS40416,MS11537 nsv519186 8 19043201 19043251 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696670 S 2026 0 1 "" dgv7751n71 8 19089142 19148851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890618,nsv890617 M 6533 0 2 LOC100128993 IS31172,IS33558 nsv6102 8 19095768 19140626 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8470 S 9 0 1 LOC100128993 NA12156 dgv7752n71 8 19096754 19137286 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890619,nsv890620 M 6533 2 0 LOC100128993 SP52202,SP58168 esv988210 8 19099538 19099809 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571652 S 3 0 1 LOC100128993 HuRef esv2589784 8 19135451 19136952 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165904 S 1 0 1 LOC100128993 NA18507 esv1958427 8 19135504 19136118 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4535457 S 1 0 1 LOC100128993 NA18507 esv23258 8 19135721 19136318 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11613 S 451 3 0 LOC100128993 NA11995,NA12156,NA12287 esv1074859 8 19136028 19136153 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139990 S 2 0 1 LOC100128993 HuRef dgv879n27 8 19159416 19203362 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465600,nsv465599 M 1557 0 2 "" HGDP00579,HGDP01397 nsv470202 8 19172583 19212422 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546703,nssv546702 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00579,HGDP01397 nsv396786 8 19190874 19190930 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415364 M 24 "" nsv521992 8 19200181 19203362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694759 S 2026 0 1 "" nsv890621 8 19217659 19255500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504183 S 6533 0 1 SH2D4A SP52274 nsv398156 8 19224503 19224554 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416734 M 24 SH2D4A nsv6103 8 19250922 19284621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5064 S 9 1 0 SH2D4A NA19129 nsv523271 8 19259670 19270615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699005 S 2026 0 1 SH2D4A nsv528004 8 19269052 19272477 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704529 S 2026 0 1 SH2D4A nsv890622 8 19269052 19319634 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534318 S 6533 1 0 CSGALNACT1,SH2D4A MS11537 esv1003522 8 19288865 19289016 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569739 S 3 0 1 SH2D4A HuRef esv1412941 8 19288946 19289098 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031401 S 2 0 1 SH2D4A HuRef nsv522774 8 19289999 19292202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698415 S 2026 0 1 SH2D4A esv34007 8 19296882 19526378 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CSGALNACT1,SH2D4A nsv890623 8 19351331 19427977 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517667 S 6533 1 0 CSGALNACT1 SP57341 esv27125 8 19363206 19363856 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12872 S 451 0 4 CSGALNACT1 NA12878,NA18508,NA18909,NA19240 esv3485 8 19363211 19363555 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25926 S 1 0 1 Single Asian sample YH CSGALNACT1 YH nsv512944 8 19363270 19363714 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625594 S 1 1 0 CSGALNACT1 1 nsv890624 8 19363341 19500550 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552715 S 6533 0 1 CSGALNACT1 MS19587 esv998128 8 19381571 19381639 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585728 S 3 0 1 CSGALNACT1 HuRef esv1000464 8 19381617 19381684 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583222 S 3 0 1 CSGALNACT1 HuRef esv1429388 8 19381618 19381687 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269239 S 2 0 1 CSGALNACT1 HuRef nsv396275 8 19381619 19381687 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414853 M 24 CSGALNACT1 nsv6104 8 19412791 19447324 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3632 S 9 1 0 CSGALNACT1 NA12878 nsv890625 8 19412977 19843921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549014 S 6533 1 0 CSGALNACT1,INTS10,LPL MS17974 esv24822 8 19417711 19420896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16127 S 451 0 1 CSGALNACT1 NA07045 nsv890626 8 19427977 19527539 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534319 S 6533 1 0 CSGALNACT1 MS11537 esv267971 8 19433696 19433781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514726 S 157 1 0 Samples from several populations that are part of the HapMap project. CSGALNACT1 NA12234 nsv890627 8 19434145 19606277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533956 S 6533 1 0 CSGALNACT1 MS11338 nsv525772 8 19478301 19478978 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701943 S 2026 0 1 CSGALNACT1 nsv465601 8 19478301 19500753 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541384 S 1557 0 1 CSGALNACT1 NINDS_230 nsv6105 8 19486408 19518510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6207 S 9 1 0 CSGALNACT1 NA12156 nsv527023 8 19534228 19534278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703398 S 2026 0 1 CSGALNACT1 nsv6106 8 19543834 19588529 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8471 S 9 0 1 CSGALNACT1 NA12156 nsv527615 8 19556817 19559214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704081 S 2026 0 1 CSGALNACT1 esv2481095 8 19568178 19569677 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350766 S 1 0 1 CSGALNACT1 NA18507 esv2405754 8 19568402 19568751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862001 S 1 0 1 CSGALNACT1 NA18507 nsv890628 8 19571816 19585246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577936 S 6533 0 1 CSGALNACT1 IS34610 dgv880n27 8 19580295 19599678 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465607,nsv465604,nsv465606,nsv465602,nsv465603 M 1557 0 5 CSGALNACT1 HGDP00454,HGDP00455,HGDP00475,HGDP01086,HGDP01090 nsv470203 8 19581364 19599678 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546708,nssv546711,nssv546706,nssv546705,nssv546707,nssv546704,nssv546709 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSGALNACT1 HGDP00454,HGDP00455,HGDP00475,HGDP00985,HGDP01086,HGDP01090,HGDP01091 nsv528523 8 19590976 19599678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705133 S 2026 0 1 "" esv993946 8 19603875 19604727 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587253 S 3 0 1 "" HuRef esv22060 8 19631864 19634591 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19364 S 451 0 1 "" NA12749 nsv890629 8 19669318 19709631 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590957 S 6533 1 0 "" IS38610 nsv521981 8 19670400 19676370 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694748 S 2026 1 0 "" nsv890630 8 19679378 19703192 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534320 S 6533 1 0 "" MS11537 nsv526671 8 19687894 19699599 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703003 S 2026 1 0 "" esv271257 8 19703180 19703265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516646,essv2515308,essv2518518,essv2515786,essv2517649,essv2517322,essv2518383,essv2519438 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11881,NA12249,NA12287,NA12815,NA12878,NA18970,NA19240 esv273366 8 19703180 19703265 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581536 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv890631 8 19756844 19801093 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550414 S 6533 1 0 "" MS18431 esv1277531 8 19767589 19767589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3977684 S 2 1 0 "" HuRef nsv520043 8 19777848 19783092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682377,nssv660259 M 2026 0 2 "" nsv510135 8 19778557 19784557 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622156 S 4 0 1 "" NA10860 esv32767 8 19784469 19917362 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100850 S 51 0 1 LPL 21656 nsv824561 8 19830544 19832053 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424337 S 31 0 1 "" NA18582 nsv890632 8 19860651 19897426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522736 S 6533 0 1 LPL SP53407 nsv515694 8 19865513 19869176 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667012,nssv669946,nssv684287,nssv670870,nssv680848,nssv654766,nssv656067,nssv658398,nssv664442,nssv665849,nssv691763,nssv690297,nssv671071 M 2026 13 0 LPL esv22708 8 19898924 19899800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16868 S 451 0 1 "" NA18909 esv23151 8 19915603 19916308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11099 S 451 0 1 "" NA11931 nsv890633 8 19919380 20029662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549015 S 6533 1 0 "" MS17974 nsv824562 8 19931949 19937131 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429937 S 31 0 1 "" AK14 nsv510136 8 19979326 19985326 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622157,nssv618286 M 4 0 2 "" CHM,NA10860 nsv525841 8 20001369 20015169 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702034 S 2026 0 1 "" nsv8311 8 20019323 20025204 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16265,nssv16524,nssv16342,nssv17205,nssv16727,nssv17343,nssv19497,nssv17556,nssv16862,nssv17377,nssv16120,nssv19973,nssv20234,nssv17005,nssv16526,nssv17788,nssv19483,nssv17508,nssv18571 M 31 0 19 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10847,NA10863,NA11830,NA12802,NA18504,NA18517,NA18537,NA18563,NA18564,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19240 dgv7753n71 8 20020519 20072754 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890637,nsv890643,nsv890638,nsv890640,nsv890641,nsv890634 M 6533 0 11 SLC18A1 IS40103,MS14210,MS14835,MS20747,MS21390,SP52175,SP52545,SP54434,SP56904,SP57600,SP81485 esv2629638 8 20023884 20025406 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210525 S 1 0 1 "" NA18507 esv1918327 8 20024364 20025056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4585644 S 1 0 1 "" NA18507 dgv7754n71 8 20025584 20052292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890635,nsv890642,nsv890636,nsv890639 M 6533 0 6 SLC18A1 SP50528,SP52393,SP52754,SP54295,SP54942,SP56832 nsv824563 8 20029043 20070370 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421836 S 31 0 1 SLC18A1 NA18997 nsv508498 8 20029169 20076420 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617358 S 4 0 1 SLC18A1 CHM essv1565 8 20030851 20073883 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SLC18A1 NA18997 nsv438045 8 20037382 20067451 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469769 S 269 0 1 Samples from several populations that are part of the HapMap project. SLC18A1 NA18997 nsv8312 8 20042443 20051291 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17035 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC18A1 NA18980 nsv6107 8 20100434 20145074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8472 S 9 0 1 ATP6V1B2 NA12156 nsv520882 8 20146286 20153772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683297,nssv676886 M 2026 0 2 LZTS1 nsv819988 8 20147514 20148741 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419205 S 2 1 0 LZTS1 AK1 nsv890644 8 20182757 20206493 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549016 S 6533 1 0 "" MS17974 nsv831256 8 20206513 20344504 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446958 S 95 0 1 "" nsv510137 8 20253239 20259239 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624060,nssv621331 M 4 0 2 "" NA15510,NA18994 essv23685 8 20273229 20559087 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10863 nsv469890 8 20283394 20489416 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649911 M 265 0 5 Samples from several populations that are part of the HapMap project. "" nsv520924 8 20510232 20510385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697691 S 2026 0 1 "" esv2617666 8 20523414 20524126 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5232014 S 1 1 0 "" NA18507 nsv512945 8 20523897 20525661 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625595 S 1 1 0 "" 1 esv1974302 8 20537366 20537761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922734 S 1 0 1 "" NA18507 esv2902 8 20537428 20537713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25343 S 1 0 1 Single Asian sample YH "" YH esv274033 8 20546797 20547145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580373,essv2579346,essv2579535 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 essv19243 8 20577324 23167554 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BIN3,BMP1,C8orf58,CHMP7,DOK2,EGR3,EPB49,FAM160B2,FGF17,FLJ14107,GFRA2,HR,KIAA1967,LGI3,LOC286059,LOC286114,LOC389641,MIR320A,NPM2,NUDT18,PDLIM2,PEBP4,PHYHIP,PIWIL2,POLR3D,PPP3CC,REEP4,RHOBTB2,SFTPC,SLC39A14,SORBS3,TNFRSF10A,TNFRSF10B,TNFRSF10C,TNFRSF10D,XPO7 NA10838 nsv8314 8 20629908 20652970 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17437,nssv18188 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA11830,NA12155 nsv831257 8 20654716 20811713 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446959 S 95 1 0 "" esv8859 8 20686445 20686543 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31300 S 1 1 0 "" SJK nsv525207 8 20729747 20735575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701289 S 2026 0 1 "" esv2547943 8 20749046 20750072 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386678 S 1 1 0 "" NA18507 nsv890645 8 20752615 20806792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536568 S 6533 1 0 "" MS12837 dgv7755n71 8 20758966 20891612 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890646,nsv890647 M 6533 2 0 LOC286114 MS18853,SP55642 nsv831258 8 20799212 20984660 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446960 S 95 1 0 LOC286114 esv2187981 8 20827703 20829203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949586 S 1 0 1 "" NA18507 esv2514030 8 20827708 20830013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5251816 S 1 0 1 "" NA18507 nsv890648 8 20827712 20854474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536569 S 6533 1 0 "" MS12837 esv29226 8 20827886 20829022 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18255 S 451 0 3 "" NA18523,NA19147,NA19240 nsv6108 8 20865144 20898017 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6208 S 9 1 0 LOC286114 NA12156 nsv6109 8 20914401 20947840 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3633 S 9 1 0 "" NA12878 nsv509253 8 20924365 20957027 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620904,nssv619522 M 4 2 0 "" NA10860,NA15510 esv995988 8 20936470 20954577 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563776 S 3 0 0 "" HuRef esv1004698 8 20944081 20946025 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586315 S 3 0 1 "" HuRef nsv397090 8 20944957 20945760 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415668 M 24 "" nsv831260 8 20951546 21141405 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446963 S 95 0 1 "" esv2452758 8 20978976 20980307 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201317 S 1 0 1 "" NA18507 esv2025562 8 20979436 20979891 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822984 S 1 0 1 "" NA18507 nsv520495 8 20987208 20988531 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694385 S 2026 0 1 "" nsv469878 8 20999540 21172587 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649899 M 265 0 8 Samples from several populations that are part of the HapMap project. "" nsv831261 8 21040375 21237899 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446965,nssv1446964 M 95 0 2 "" nsv890649 8 21045659 21215539 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520001 S 6533 0 1 "" SP50634 esv2499609 8 21097951 21098916 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254299 S 1 1 0 "" NA18507 nsv6111 8 21170892 21176126 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2783 S 9 1 0 "" NA18555 nsv469767 8 21181594 21388675 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649788 M 265 0 6 Samples from several populations that are part of the HapMap project. "" esv26195 8 21212033 21216058 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14319 S 451 3 0 "" NA18916,NA19099,NA19108 nsv8315 8 21212110 21216409 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16910 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18853 esv4833 8 21214212 21216229 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27274 S 1 0 1 Single Asian sample YH "" YH nsv397592 8 21214827 21215002 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416170 M 24 "" nsv398031 8 21215013 21215817 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416609 M 24 "" nsv6112 8 21216491 21261490 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8473 S 9 0 1 "" NA12156 nsv471770 8 21254710 21255325 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646051 M 0.045 95 "" esv24881 8 21320911 21322427 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19200 S 451 0 1 "" NA19129 nsv831262 8 21326397 21464672 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446966 S 95 0 1 "" nsv507447 8 21335380 21341380 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623031,nssv621907 M 4 2 0 "" NA10860,NA18994 nsv433492 8 21343107 21344107 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463373 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv6113 8 21354708 21400768 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv721 S 9 0 1 "" NA19240 nsv8316 8 21373178 21381007 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18601 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv22896 8 21374103 21381311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18477 S 451 0 1 "" NA19240 nsv442102 8 21374732 21379526 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv6114 8 21397220 21429697 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6209 S 9 1 0 "" NA12156 esv1004910 8 21416281 21419080 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565675 S 3 1 0 "" HuRef nsv512946 8 21419032 21419164 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625596 S 1 1 0 "" 1 esv1770787 8 21419090 21419090 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325920 S 2 1 0 "" HuRef nsv8317 8 21428460 21432141 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17919 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12740 esv274594 8 21566185 21566270 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581209 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv25058 8 21702133 21704355 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17259 S 451 0 1 GFRA2 NA07045 nsv509254 8 21708293 21779621 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623529 S 4 1 0 "" NA18994 nsv465608 8 21718252 21735360 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541391 S 1557 0 1 "" 1780854418_A essv21913 8 21729708 22858325 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. BIN3,BMP1,C8orf58,DOK2,EGR3,EPB49,FAM160B2,FGF17,FLJ14107,HR,KIAA1967,LGI3,MIR320A,NPM2,NUDT18,PDLIM2,PEBP4,PHYHIP,PIWIL2,POLR3D,PPP3CC,REEP4,SFTPC,SLC39A14,SORBS3,XPO7 NA10838 nsv519854 8 21748175 21762020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697087 S 2026 0 1 "" nsv8319 8 21832108 21834257 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18218,nssv20264,nssv17949,nssv17538,nssv17014,nssv19513,nssv19551 M 31 7 0 Samples from several populations that are part of the HapMap project. XPO7 NA10839,NA12155,NA12740,NA18504,NA18517,NA18564,NA18860 dgv7756n71 8 21928274 22094897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890650,nsv890653,nsv890655 M 6533 0 3 BMP1,EPB49,FAM160B2,FGF17,HR,LGI3,NPM2,NUDT18,REEP4,SFTPC IS37646,MS18276,SP54956 nsv831263 8 21944545 22097871 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446970,nssv1446969,nssv1446967,nssv1446968,nssv1446972,nssv1446971,nssv1446975,nssv1446976,nssv1446974 M 95 0 9 BMP1,EPB49,FAM160B2,FGF17,HR,LGI3,NPM2,NUDT18,REEP4,SFTPC nsv528590 8 21947885 22081589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705215 S 2026 0 1 BMP1,EPB49,FAM160B2,FGF17,HR,LGI3,NPM2,NUDT18,REEP4,SFTPC nsv8320 8 21951089 21953587 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17969 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 dgv7757n71 8 21952043 22057017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890651,nsv890652 M 6533 0 4 EPB49,FAM160B2,FGF17,HR,NUDT18,REEP4 IS33684,IS39417,MS16153,MS17208 nsv890654 8 21952043 22164556 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530613 S 6533 0 1 BMP1,EPB49,FAM160B2,FGF17,HR,LGI3,MIR320A,NUDT18,PHYHIP,POLR3D,REEP4,SFTPC MS10311 nsv465613 8 21960158 22111293 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541392 S 1557 0 1 BMP1,EPB49,FAM160B2,FGF17,HR,LGI3,NUDT18,REEP4,SFTPC NINDS_51 dgv7758n71 8 21990627 22094897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890656,nsv890659,nsv890658 M 6533 0 3 BMP1,EPB49,FAM160B2,HR,LGI3,NUDT18,REEP4,SFTPC IS35484,IS39233,IS40297 nsv890657 8 21990627 22119076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536236 S 6533 0 1 BMP1,EPB49,FAM160B2,HR,LGI3,NUDT18,REEP4,SFTPC MS12656 esv1008033 8 22000107 22005983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564194 S 3 0 1 FAM160B2 HuRef nsv831264 8 22007157 22241498 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446977,nssv1446986,nssv1446980,nssv1446979,nssv1446978,nssv1446985,nssv1446982,nssv1446981,nssv1446983 M 95 1 8 BMP1,FAM160B2,HR,LGI3,MIR320A,NUDT18,PHYHIP,PIWIL2,POLR3D,REEP4,SFTPC dgv450n21 8 22008172 22044460 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524566,nsv519698 M 2026 0 5 FAM160B2,HR,NUDT18 dgv881n27 8 22008172 22076982 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465615,nsv465618,nsv465614 M 1557 0 3 FAM160B2,HR,LGI3,NUDT18,REEP4,SFTPC HGDP00776,HGDP00784,HGDP00961 nsv470204 8 22008172 22084613 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546715,nssv546712,nssv546713,nssv546714 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BMP1,FAM160B2,HR,LGI3,NUDT18,REEP4,SFTPC HGDP00550,HGDP00657,HGDP00960,HGDP00963 nsv527293 8 22020323 22076982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703708 S 2026 0 1 HR,LGI3,NUDT18,REEP4,SFTPC nsv524720 8 22034017 22063238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700705 S 2026 0 1 HR,LGI3,REEP4 nsv890660 8 22054486 22084613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511398 S 6533 0 1 BMP1,LGI3,REEP4,SFTPC SP55021 nsv890661 8 22064847 22075838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507742 S 6533 0 1 LGI3,SFTPC SP54593 dgv7759n71 8 22064847 22083096 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890662,nsv890666,nsv890665,nsv890667 M 6533 0 6 BMP1,LGI3,SFTPC SP51109,SP54591,SP54672,SP54725,SP54750,SP54988 dgv7760n71 8 22067934 22075757 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890663,nsv890664 M 6533 0 2 LGI3,SFTPC SP54967,SP55019 dgv7761n71 8 22075363 22081473 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890669,nsv890668 M 6533 0 3 BMP1,SFTPC SP54002,SP54776,SP55277 nsv890670 8 22076239 22084613 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505971 S 6533 0 1 BMP1,SFTPC SP54043 nsv470205 8 22104735 22169510 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546716 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BMP1,MIR320A,PHYHIP,POLR3D HGDP01412 nsv831265 8 22113146 22280376 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446987 S 95 0 1 BMP1,MIR320A,PHYHIP,PIWIL2,POLR3D nsv6115 8 22163282 22195880 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6210 S 9 1 0 PIWIL2,POLR3D NA12156 esv271632 8 22185115 22185443 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542276,essv2522777,essv2568290,essv2576576,essv2550509,essv2529396,essv2530744,essv2534364,essv2537729,essv2563460 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10847,NA11919,NA11931,NA11995,NA12154,NA12234,NA12749,NA12873,NA18959 nsv518646 8 22210078 22434063 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696095 S 2026 1 0 PIWIL2,PPP3CC,SLC39A14 nsv831266 8 22229411 22389491 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446988 S 95 0 1 PIWIL2,PPP3CC,SLC39A14 essv1932 8 22241469 22414061 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PIWIL2,PPP3CC,SLC39A14 NA18959 esv22246 8 22245101 22248025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10259 S 451 0 1 PIWIL2 NA18909 nsv6116 8 22282033 22312824 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5066 S 9 1 0 SLC39A14 NA19129 nsv890671 8 22284773 22327940 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546669,nssv1530614 M 6533 0 2 SLC39A14 MS10311,MS17208 esv1010019 8 22288596 22300261 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564596 S 3 0 1 SLC39A14 HuRef nsv398059 8 22309907 22310036 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416637 M 24 SLC39A14 dgv451n21 8 22317574 22466102 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517680,nsv519758 M 2026 0 12 PPP3CC,SLC39A14,SORBS3 nsv8321 8 22320584 22323164 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19581 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC39A14 NA18860 nsv890672 8 22408287 22441006 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514440 S 6533 0 1 PPP3CC SP56004 nsv890673 8 22466102 22551911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543524 S 6533 0 1 BIN3,C8orf58,KIAA1967,PDLIM2,SORBS3 MS16153 dgv7762n71 8 22475136 22526253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890674,nsv890676 M 6533 0 2 C8orf58,KIAA1967,PDLIM2,SORBS3 SP54956,SP54988 nsv890675 8 22476941 22488123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509327 S 6533 0 1 SORBS3 SP54782 esv1623916 8 22539347 22539347 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4206518 S 2 1 0 BIN3 HuRef esv1939469 8 22560182 22560576 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4896664 S 1 0 1 BIN3 NA18507 nsv6117 8 22583902 22615332 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10613 S 9 1 0 EGR3 NA18956 esv271659 8 22587714 22588016 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503291,essv2497180,essv2497740,essv2508666,essv2493081,essv2500517,essv2497388 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18542,NA18552,NA18555,NA18592,NA18951,NA18956,NA18959 nsv890677 8 22595586 22620268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509912 S 6533 0 1 EGR3 SP54956 nsv8322 8 22602161 22609731 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18248,nssv21120 M 31 2 0 Samples from several populations that are part of the HapMap project. EGR3 NA12155,NA19221 nsv890678 8 22602997 22621225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505972 S 6533 0 1 EGR3 SP54043 esv1312882 8 22622432 22622848 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939316 S 2 0 1 "" HuRef nsv831267 8 22638260 22806628 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446989 S 95 1 0 PEBP4 esv2027896 8 22679106 22679543 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568988 S 1 0 1 PEBP4 NA18507 nsv396765 8 22679225 22679225 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415343 M 24 PEBP4 esv988282 8 22679252 22679252 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571083 S 3 1 0 PEBP4 HuRef nsv523385 8 22823484 22830055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699134 S 2026 0 1 PEBP4 nsv517319 8 22826949 22828329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692367,nssv680383,nssv651699,nssv687196 M 2026 0 4 PEBP4 nsv890679 8 22862793 22928002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550415 S 6533 1 0 RHOBTB2 MS18431 nsv529025 8 22893066 22893697 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705736 S 2026 0 1 "" nsv8323 8 22898453 22900949 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21150,nssv19527 M 31 2 0 Samples from several populations that are part of the HapMap project. RHOBTB2 NA19132,NA19221 nsv526377 8 22917187 22920567 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702673 S 2026 0 1 RHOBTB2 nsv522436 8 22917187 22928002 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705794 S 2026 0 1 RHOBTB2 nsv524231 8 22917187 22942075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700120 S 2026 0 1 RHOBTB2,TNFRSF10B esv1764616 8 22953759 22953835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135499 S 2 0 1 TNFRSF10B HuRef nsv520728 8 22993801 23097027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694397 S 2026 0 1 LOC286059,TNFRSF10C,TNFRSF10D esv8868 8 23026491 23067141 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31309 S 1 0 0 TNFRSF10C,TNFRSF10D SJK nsv8326 8 23045918 23075955 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19611 S 31 1 0 Samples from several populations that are part of the HapMap project. TNFRSF10D NA18860 dgv68n64 8 23049312 23075599 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818617,nsv818615 M 112 2 0 TNFRSF10D NA19144,NA19238 esv28117 8 23055069 23078399 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12769 S 451 1 0 TNFRSF10D NA18861 nsv818616 8 23056128 23063738 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415839 S 112 1 0 TNFRSF10D NA19141 esv267765 8 23098331 23098669 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518747,essv2515435,essv2514953,essv2513939 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12249,NA12812,NA19143 esv1761302 8 23098364 23098364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4313476 S 2 1 0 "" HuRef nsv890680 8 23215319 23234855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543525 S 6533 0 1 LOXL2 MS16153 nsv890681 8 23242944 23321877 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597208 S 6533 0 1 LOC100507156,LOXL2 IS40769 esv25599 8 23258145 23263194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15801 S 451 0 1 LOC100507156,LOXL2 NA18523 nsv831268 8 23270459 23451537 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446990 S 95 1 0 ENTPD4,LOC100507156,LOXL2,SLC25A37 nsv6118 8 23274995 23308648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8474 S 9 1 0 LOC100507156,LOXL2 NA12156 nsv470206 8 23293928 23350706 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546717 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ENTPD4,LOXL2 HGDP01089 nsv508499 8 23365966 23478658 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620004 S 4 0 1 ENTPD4,SLC25A37 NA15510 esv2421786 8 23460730 23463850 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084844,essv5098974,essv5081764,essv5025691,essv5072751,essv5123060,essv5032349,essv5151701,essv5127672,essv5124218,essv5083311,essv5013153,essv5114958,essv5095011,essv5097278,essv5063354,essv5066486,essv5126152,essv5138383,essv5031105,essv5062845,essv5045816,essv5054235,essv5031886,essv5156173,essv5110609,essv5137323,essv5082033,essv5111215,essv5145483,essv5133920,essv5023435,essv5093557,essv5137345,essv5034830,essv5031826,essv5145564,essv5126609,essv5064057,essv5107858,essv5100737,essv5013409,essv5083011,essv5055151,essv5100319,essv5082786,essv5062566,essv5024670,essv5121120,essv5010782,essv5073730,essv5095332,essv5064113,essv5156180,essv5089823,essv5123177,essv5020992,essv5032488,essv5074671,essv5033928,essv5090096,essv5092261,essv5116407,essv5122607,essv5133696,essv5043541,essv5011005,essv5144845,essv5086923,essv5080466,essv5090664,essv5049198,essv5094286,essv5142681,essv5129058,essv5041617,essv5037592,essv5086817,essv5048401,essv5066103,essv5157989,essv5126035,essv5127453,essv5034670,essv5039313,essv5089596,essv5050230,essv5109542,essv5019994,essv5066528,essv5091108,essv5063031,essv5046147,essv5131541,essv5037117,essv5127089,essv5055672,essv5122345,essv5019592,essv5139134,essv5070296,essv5133895,essv5117861,essv5122274,essv5117544,essv5025152,essv5113329,essv5022125,essv5021280,essv5128514,essv5069082,essv5144823,essv5006311,essv5091984,essv5079980,essv5062469,essv5149195,essv5069931,essv5126159,essv5082431,essv5054757,essv5137016,essv5108729,essv5092267,essv5098426,essv5141148,essv5065835,essv5064429,essv5124802,essv5137347,essv5059347,essv5011839,essv5010329,essv5121375,essv5068926,essv5094907,essv5126994,essv5056167,essv5038436,essv5035852,essv5028545,essv5137768,essv5132821,essv5098757,essv5007622,essv5071252,essv5093895,essv5067243,essv5149182,essv5144969,essv5066146,essv5060887,essv5045487,essv5042601,essv5155449,essv5142107,essv5159382,essv5065067,essv5121188,essv5099827,essv5015449,essv5108734,essv5079468,essv5148583,essv5152039,essv5147015,essv5034029,essv5012001,essv5043609,essv5038298,essv5135120,essv5044045,essv5094148,essv5113979,essv5119971,essv5110212,essv5109300,essv5160211,essv5010117,essv5011239,essv5089182,essv5014055,essv5091005,essv5020887,essv5135934,essv5029863,essv5068454,essv5120538,essv5117915,essv5025112,essv5036446,essv5088452,essv5050731,essv5134100,essv5080133,essv5053045,essv5012399,essv5130673,essv5003052,essv5140005,essv5020321,essv5030275,essv5039884,essv5064347,essv5045000,essv5120284,essv5020654,essv5012092,essv5139717,essv5135930,essv5151212,essv5026921,essv5039141,essv5086723,essv5131838,essv5005759,essv5079935,essv5041182,essv5085619,essv5105326,essv5144256,essv5008876,essv5015576,essv5027925,essv5136597,essv5138648,essv5104404,essv5158540,essv5054597,essv5157906,essv5151838,essv5118662,essv5063946,essv5159894,essv5087454,essv5096784,essv5093307,essv5151632,essv5029523,essv5064464,essv5078038,essv5019551,essv5160040,essv5047213,essv5118830,essv5158361,essv5124059,essv5065158,essv5035573,essv5142629,essv5081554,essv5063173,essv5149058,essv5082179,essv5050393,essv5006059,essv5022997,essv5117687,essv5079528,essv5071125,essv5121373,essv5104942,essv5125595,essv5107860,essv5155045,essv5099342,essv5035546,essv5067718,essv5012657,essv5157042,essv5082195,essv5009625,essv5072357,essv5145656,essv5005831,essv5131275,essv5158443,essv5129708,essv5074165,essv5142193,essv5105745,essv5133522,essv5128281,essv5068885,essv5154032,essv5031680,essv5014745,essv5117941,essv5022669,essv5079393,essv5015857,essv5024649,essv5011161,essv5125511,essv5039187,essv5125820,essv5074720,essv5048494,essv5085902,essv5147118,essv5128570,essv5072709,essv5153727,essv5149965,essv5135357,essv5031411,essv5012996,essv5038723,essv5025005,essv5116566,essv5153473,essv5049963,essv5063221,essv5154048,essv5022813,essv5103704,essv5110348,essv5140805,essv5024134,essv5068662,essv5109358,essv5144259,essv5040444,essv5116150,essv5053786,essv5154408,essv5062141,essv5157068,essv5108809,essv5043274,essv5136068,essv5105080,essv5057148,essv5037846,essv5143437,essv5073918,essv5148091,essv5103811,essv5004333,essv5160381,essv5116537,essv5150450,essv5156911,essv5033289,essv5015618,essv5128033,essv5097079,essv5064300,essv5093707,essv5152750,essv5029692,essv5102016,essv5063203,essv5131815,essv5123641,essv5135636,essv5057919,essv5085411,essv5008148,essv5137847,essv5043636,essv5066492,essv5121261,essv5014274,essv5042711,essv5127454,essv5131025,essv5005899,essv5144462,essv5061410,essv5004561,essv5009917,essv5100954,essv5094309,essv5074983,essv5063666,essv5005644,essv5080407,essv5135763,essv5035665,essv5158418,essv5096568,essv5153141,essv5113074,essv5124542,essv5048761,essv5044491,essv5125263,essv5088106,essv5035356,essv5033445,essv5136142,essv5058681,essv5143269,essv5003317,essv5126154,essv5061028,essv5064894,essv5055512,essv5083226,essv5103696,essv5096725,essv5094325,essv5078337,essv5011918,essv5084916,essv5137218,essv5017975,essv5014338,essv5110902,essv5043073,essv5144159,essv5131744,essv5114782,essv5014163,essv5112688,essv5091231,essv5008774,essv5147289,essv5030797,essv5043156,essv5096399,essv5038514,essv5007000,essv5052440,essv5066417,essv5095939,essv5072785,essv5109279,essv5021462,essv5144768,essv5023870,essv5025811,essv5037525,essv5093152,essv5008308,essv5035488,essv5128114,essv5076070,essv5029989,essv5106981,essv5002147,essv5039719,essv5061265,essv5019328,essv5156037,essv5128589,essv5153655,essv5130558,essv5036765,essv5074313,essv5148232,essv5003238,essv5047826,essv5030219,essv5144227,essv5102095,essv5019565,essv5123483,essv5134459,essv5052335,essv5093279,essv5107130,essv5047307,essv5035338,essv5053553,essv5091771,essv5068846,essv5006545,essv5118357,essv5032219,essv5017178,essv5085427,essv5138834,essv5070722,essv5054909,essv5150927,essv5101978,essv5023315,essv5051980,essv5020956,essv5017534,essv5154268,essv5009978,essv5057555,essv5141315,essv5079037,essv5148033,essv5121390,essv5144436,essv5011467,essv5091797,essv5039868,essv5124963,essv5154460,essv5109912,essv5069554,essv5064186,essv5096687,essv5138056,essv5068962,essv5048543,essv5116397,essv5075536,essv5158226,essv5044568,essv5012963,essv5146844,essv5018098,essv5123791,essv5056771,essv5062468,essv5109842,essv5125072,essv5040201,essv5020415,essv5161096,essv5145638,essv5130608,essv5114044,essv5065883,essv5057074,essv5069054,essv5061633,essv5049242,essv5153328,essv5050340,essv5018405,essv5072597,essv5081041,essv5092406,essv5016962,essv5104303,essv5031054,essv5075580,essv5126736,essv5130826,essv5035998,essv5130572,essv5050658,essv5064055,essv5025749,essv5080274,essv5029347,essv5012947,essv5129088,essv5051405,essv5126640,essv5125257,essv5121638,essv5055241,essv5049446,essv5078427,essv5128031,essv5037248,essv5028814,essv5152325,essv5028929,essv5101282,essv5132448,essv5039451,essv5156705,essv5079964,essv5058120,essv5048624,essv5041218,essv5046931,essv5004984,essv5033479,essv5122061,essv5137596,essv5044909,essv5059833,essv5097084,essv5131579,essv5122373,essv5140137,essv5010510,essv5057632,essv5145964,essv5010383,essv5050894,essv5131150,essv5076818,essv5099842,essv5103982,essv5147521,essv5089689,essv5029893,essv5130568,essv5068792,essv5060084,essv5110063,essv5104307,essv5089899,essv5060575,essv5042063,essv5033081,essv5101678,essv5115466,essv5158923,essv5049766,essv5002353,essv5097137,essv5152868,essv5158802,essv5072041,essv5139225,essv5045954,essv5126611,essv5094425,essv5067905,essv5105905,essv5153117,essv5014873 M 1184 0 615 SLC25A37 NA06984,NA06985,NA06986,NA10830,NA10843,NA10856,NA11829,NA11920,NA11993,NA12006,NA12154,NA12273,NA12342,NA12343,NA12383,NA12750,NA12752,NA12760,NA12761,NA12828,NA12830,NA12864,NA12872,NA17965,NA17966,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17980,NA17982,NA17986,NA17987,NA17989,NA17990,NA17993,NA17995,NA17996,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18132,NA18133,NA18134,NA18135,NA18138,NA18139,NA18140,NA18144,NA18149,NA18151,NA18153,NA18155,NA18156,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18532,NA18534,NA18536,NA18537,NA18544,NA18545,NA18548,NA18550,NA18552,NA18555,NA18558,NA18559,NA18561,NA18562,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18605,NA18608,NA18609,NA18610,NA18611,NA18614,NA18615,NA18616,NA18617,NA18619,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18674,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18749,NA18757,NA18852,NA18853,NA18855,NA18857,NA18858,NA18859,NA18860,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18875,NA18913,NA18916,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18945,NA18948,NA18949,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18959,NA18961,NA18962,NA18965,NA18966,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA19007,NA19009,NA19027,NA19038,NA19041,NA19044,NA19046,NA19054,NA19055,NA19058,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19072,NA19074,NA19075,NA19077,NA19079,NA19084,NA19087,NA19095,NA19096,NA19097,NA19098,NA19107,NA19108,NA19109,NA19114,NA19115,NA19116,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19137,NA19138,NA19139,NA19141,NA19143,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19161,NA19171,NA19172,NA19176,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19189,NA19190,NA19191,NA19192,NA19194,NA19197,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19215,NA19221,NA19222,NA19224,NA19225,NA19226,NA19236,NA19237,NA19238,NA19248,NA19256,NA19257,NA19258,NA19307,NA19309,NA19311,NA19313,NA19314,NA19315,NA19317,NA19318,NA19319,NA19324,NA19328,NA19332,NA19334,NA19347,NA19350,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19383,NA19384,NA19385,NA19390,NA19393,NA19394,NA19396,NA19398,NA19399,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19444,NA19445,NA19448,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19466,NA19468,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19654,NA19656,NA19658,NA19659,NA19661,NA19663,NA19684,NA19700,NA19702,NA19704,NA19705,NA19708,NA19711,NA19713,NA19747,NA19748,NA19755,NA19757,NA19759,NA19760,NA19762,NA19763,NA19771,NA19774,NA19775,NA19776,NA19778,NA19780,NA19783,NA19794,NA19795,NA19796,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19908,NA19909,NA19914,NA19915,NA19916,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA20126,NA20127,NA20128,NA20129,NA20277,NA20281,NA20282,NA20284,NA20288,NA20289,NA20291,NA20292,NA20294,NA20295,NA20301,NA20302,NA20317,NA20340,NA20341,NA20344,NA20347,NA20349,NA20350,NA20356,NA20357,NA20358,NA20359,NA20363,NA20364,NA20515,NA20522,NA20524,NA20529,NA20530,NA20539,NA20582,NA20589,NA20761,NA20773,NA20799,NA20852,NA20859,NA20870,NA20871,NA20874,NA20876,NA20879,NA20883,NA20889,NA20892,NA20898,NA20904,NA20908,NA21090,NA21091,NA21102,NA21116,NA21137,NA21295,NA21297,NA21300,NA21301,NA21303,NA21307,NA21308,NA21309,NA21314,NA21316,NA21317,NA21320,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21361,NA21363,NA21365,NA21366,NA21368,NA21370,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21389,NA21399,NA21400,NA21401,NA21402,NA21403,NA21405,NA21408,NA21415,NA21418,NA21420,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21441,NA21442,NA21447,NA21451,NA21457,NA21473,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21517,NA21519,NA21520,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21576,NA21577,NA21578,NA21583,NA21587,NA21596,NA21597,NA21600,NA21601,NA21611,NA21613,NA21619,NA21631,NA21632,NA21635,NA21647,NA21650,NA21678,NA21682,NA21685,NA21686,NA21689,NA21716,NA21717,NA21718,NA21719,NA21723,NA21733,NA21738,NA21740,NA21768,NA21784,NA21825 esv22651 8 23462931 23463852 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18704 S 451 0 1 SLC25A37 NA19257 esv1990641 8 23462993 23463986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971676 S 1 0 1 SLC25A37 NA18507 nsv471717 8 23463108 23463898 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv645998 M 1.036 95 SLC25A37 esv4817 8 23463136 23463890 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27258 S 1 0 1 Single Asian sample YH SLC25A37 YH esv2528186 8 23463150 23464798 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325040 S 1 0 1 SLC25A37 NA18507 nsv396338 8 23463165 23463804 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414916 M 24 SLC25A37 esv9692 8 23463171 23463803 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32133 S 1 0 1 SLC25A37 SJK nsv819222 8 23485215 23486138 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419121 S 2 1 0 SLC25A37 AK1 esv1111604 8 23494299 23494299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3914947 S 2 1 0 "" HuRef esv1367636 8 23503786 23503836 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3799156 S 2 0 1 "" HuRef nsv6119 8 23511720 23546728 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3634,nssv722 M 9 2 0 "" NA12878,NA19240 nsv831269 8 23575125 23763289 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1446991 S 95 1 0 NKX2-6,NKX3-1,STC1 esv2524137 8 23580466 23581954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379184 S 1 0 1 "" NA18507 esv271265 8 23700926 23701266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514779,essv2515315,essv2515850 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12249,NA12873 nsv519613 8 23733945 23746576 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696951 S 2026 0 1 "" nsv465622 8 23733945 23751848 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541397 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01191 esv3752 8 23811543 23812099 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26193 S 1 0 1 Single Asian sample YH "" YH nsv397455 8 23811637 23811714 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416033 M 24 "" esv995520 8 23811726 23811917 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569343 S 3 0 1 "" HuRef esv1360916 8 23811740 23811792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879056 S 2 0 1 "" HuRef esv1442504 8 23811834 23811972 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708735 S 2 0 1 "" HuRef nsv397954 8 23811886 23811969 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416532 M 24 "" nsv396676 8 23854037 23854037 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415254 M 24 "" nsv396366 8 23954409 23954543 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414944 M 24 "" nsv520461 8 23966612 23977730 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693949,nssv690424,nssv678204,nssv671664 M 2026 0 4 "" nsv396163 8 24039794 24039794 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414741 M 24 "" nsv831271 8 24116700 24305391 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447003,nssv1446992,nssv1446993,nssv1446994,nssv1446998,nssv1446997,nssv1447001,nssv1446996,nssv1447000,nssv1447002,nssv1446999 M 95 11 0 ADAM28,ADAMDEC1 esv25853 8 24145242 24147784 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13190 S 451 0 1 "" NA18907 nsv6120 8 24189670 24221735 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1723 S 9 0 1 ADAM28 NA18555 esv27921 8 24201098 24207111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16771 S 451 0 9 "" NA06985,NA11931,NA12004,NA12414,NA18502,NA18517,NA18523,NA18861,NA18909 dgv1174n67 8 24201155 24207060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824567,nsv824566,nsv824565,nsv824568 M 31 0 9 "" AK10,AK16,AK8,NA18537,NA18552,NA18570,NA18968,NA18997,NA18999 nsv499656 8 24201252 24207031 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586071 S 9 0 1 "" nsv397573 8 24201255 24207030 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416151 M 24 "" nsv514483 8 24201340 24206944 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627944 S 1414 0 1 "" nsv442506 8 24201375 24207011 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv890682 8 24255008 24426724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555857 S 6533 1 0 ADAM28,ADAM7,ADAMDEC1 MS21674 nsv507448 8 24276708 24282708 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617762,nssv621908 M 4 2 0 "" CHM,NA10860 nsv890683 8 24312524 24361197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599534 S 6533 1 0 ADAM7,ADAMDEC1 IS41657 dgv452n21 8 24334889 24418700 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518606,nsv521359 M 2026 0 2 ADAM7 esv1347031 8 24358740 24358740 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655535 S 2 1 0 ADAM7 HuRef nsv397333 8 24358741 24358741 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415911 M 24 ADAM7 esv1005603 8 24378157 24378342 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568349 S 3 0 1 ADAM7 HuRef esv1752768 8 24378230 24378416 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207944 S 2 0 1 ADAM7 HuRef esv27997 8 24498730 24502747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9961 S 451 0 3 "" NA18907,NA19147,NA19257 nsv437606 8 24556400 24566268 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467487 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv6122 8 24586554 24631590 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1724 S 9 0 1 "" NA18555 nsv818618 8 24589083 24594137 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417251 S 112 1 0 "" NA18577 esv270839 8 24625825 24625910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517935 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv515075 8 24647896 24648568 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627070 S 1414 0 0 "" esv2492607 8 24648833 24652115 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313999 S 1 0 1 "" NA18507 esv2401316 8 24649293 24651615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568898 S 1 0 1 "" NA18507 esv25883 8 24649423 24651424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10841 S 451 0 4 "" NA18502,NA18505,NA18907,NA19129 nsv514484 8 24649668 24650108 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627945 S 1414 0 1 "" esv7790 8 24697388 24698945 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30231 S 1 0 0 "" SJK esv267893 8 24708356 24708684 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505746,essv2507310,essv2510950 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18861,NA18912,NA19116 esv25598 8 24781340 24782474 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12089 S 451 0 1 "" NA18907 esv270052 8 24834974 24835310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519325,essv2514780,essv2514907,essv2516531,essv2518059,essv2515878,essv2517764,essv2519362 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA12234,NA12812,NA12814,NA12872,NA12873,NA12878 esv272681 8 24834974 24835310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581179 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1391598 8 24835019 24835019 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145739 S 2 1 0 "" HuRef nsv509255 8 24971520 24985633 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623530 S 4 1 0 "" NA18994 esv33239 8 24980920 24981464 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98779 S 51 1 0 "" 21606 esv33341 8 24981464 24990511 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99563 S 51 1 0 "" 22335 esv273285 8 24982407 24985291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579930,essv2580764 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238 esv272080 8 24982456 24985317 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526027,essv2542540,essv2544203,essv2556537,essv2523400,essv2577190,essv2570623,essv2576870,essv2550812,essv2525292,essv2535136,essv2544496,essv2552244,essv2547407,essv2558574,essv2564333,essv2559567,essv2546684,essv2540005,essv2578687,essv2558776,essv2536859,essv2523879,essv2542929,essv2534627,essv2549310,essv2532686,essv2567971,essv2528967,essv2541620,essv2563886,essv2572575,essv2569123,essv2578212,essv2573204,essv2533758,essv2567245,essv2530000,essv2556058,essv2534434,essv2522521,essv2543314,essv2525717,essv2575553,essv2575188,essv2568444,essv2545081,essv2560285,essv2571201,essv2551365,essv2536010,essv2548828,essv2533160 M 157 53 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA11918,NA11919,NA11992,NA11994,NA12004,NA12043,NA12044,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12717,NA12750,NA12751,NA12776,NA12892,NA18489,NA18510,NA18516,NA18517,NA18537,NA18550,NA18561,NA18564,NA18576,NA18577,NA18579,NA18592,NA18603,NA18609,NA18861,NA18940,NA18942,NA18944,NA18947,NA18949,NA18956,NA18959,NA18960,NA18965,NA18980,NA19099,NA19102,NA19147,NA19172,NA19190,NA19238,NA19257 nsv512947 8 25000153 25001256 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625597 S 1 1 0 "" 1 esv2519119 8 25001147 25001974 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175218 S 1 1 0 "" NA18507 esv32628 8 25001296 25001594 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98008 S 51 0 1 "" 22259 nsv510138 8 25007936 25013936 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624061 S 4 0 1 "" NA18994 dgv143n17 8 25015392 25048380 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437608,nsv437607 M 60 0 2 "" NA19100,NA19240 nsv6123 8 25018449 25081492 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1725,nssv9745,nssv5067,nssv723 M 9 0 4 "" NA18507,NA18555,NA19129,NA19240 dgv2226e1 8 25026436 25049622 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21620,essv3505,essv14262,essv987 M 271 0 0 "" NA07348,NA18964,NA18999,NA19100 dgv144n17 8 25026922 25048380 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437610,nsv437609,nsv437060,nsv437061 M 60 0 4 "" NA10861,NA12878,NA19139,NA19173 esv2596923 8 25027503 25048282 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276005 S 1 0 1 "" NA18507 essv23722 8 25027869 25040250 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12813 nsv8327 8 25027885 25047057 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16039,nssv17999,nssv18631,nssv17818,nssv17065,nssv17373,nssv16892,nssv16787,nssv17044 M 31 0 9 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA18563,NA18572,NA18980,NA19144,NA19173,NA19240 esv2545725 8 25027997 25047774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215257 S 1 0 1 "" NA18507 esv2055589 8 25028165 25047030 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911591 S 1 0 1 "" NA18507 nsv512035 8 25028248 25047119 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624584 S 1 0 1 "" 1 esv24707 8 25028319 25046810 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10480 S 451 0 17 "" NA07037,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA18508,NA18907,NA19129,NA19240 nsv499649 8 25028349 25046863 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586072 S 9 0 1 "" dgv1175n67 8 25028389 25046892 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824570,nsv824569 M 31 0 9 "" AK12,AK16,NA18526,NA18547,NA18592,NA18949,NA18968,NA18997,NA18999 nsv514485 8 25028536 25046176 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627946 S 1414 0 1 "" nsv438046 8 25030376 25045471 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469800,nssv469781,nssv469772,nssv469778,nssv469799,nssv469794,nssv469804,nssv469801,nssv469795,nssv469810,nssv469775,nssv469791,nssv469802,nssv469780,nssv469783,nssv469771,nssv469782,nssv469777,nssv469786,nssv469770,nssv469808,nssv469809,nssv469789,nssv469784,nssv469788,nssv469798,nssv469797,nssv469779,nssv469776,nssv469792,nssv469790,nssv469773,nssv469812,nssv469803,nssv469793,nssv469811,nssv469787,nssv469806,nssv469805 M 269 0 27 Samples from several populations that are part of the HapMap project. "" NA06994,NA07029,NA07345,NA07348,NA07357,NA10838,NA10839,NA10846,NA10861,NA11995,NA12004,NA12005,NA12006,NA12144,NA12145,NA12707,NA12716,NA12801,NA12812,NA12878,NA12892,NA18506,NA18999,NA19098,NA19100,NA19239,NA19240 esv2421586 8 25030393 25043272 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5063466,essv5053534,essv5125281,essv5096177,essv5128736,essv5121351,essv5089253,essv5090898,essv5141804,essv5097049,essv5011101,essv5072941,essv5093348,essv5152060,essv5083591,essv5142547,essv5156334,essv5006949,essv5044107,essv5095948,essv5124448,essv5105729,essv5111341,essv5154696,essv5107667,essv5133285,essv5074031,essv5069465,essv5051921,essv5144913,essv5004543,essv5148768,essv5040462,essv5011378,essv5090325,essv5010549,essv5028385,essv5071591,essv5122451,essv5130848,essv5059892,essv5152938,essv5088850,essv5159155,essv5105034,essv5040851,essv5137185,essv5036890,essv5109329,essv5017807,essv5076598,essv5121241,essv5110970,essv5128123,essv5019164,essv5140569,essv5069368,essv5040801,essv5107906,essv5020946,essv5017935,essv5002199,essv5026238,essv5023915,essv5038381,essv5142634,essv5017895,essv5149139,essv5154465,essv5082618,essv5034451,essv5104972,essv5156261,essv5059703,essv5058621,essv5012317,essv5027943,essv5059682,essv5082695,essv5032413,essv5084867,essv5024565,essv5097995,essv5014696,essv5160569,essv5085377,essv5073510,essv5096896,essv5105920,essv5075592,essv5099992,essv5080743,essv5047015,essv5052548,essv5098747,essv5080573,essv5044947,essv5142802,essv5077417,essv5113865,essv5012620,essv5139731,essv5092405,essv5046652,essv5097154,essv5101459,essv5071504,essv5149951,essv5008188,essv5119816,essv5108531,essv5052478,essv5155305,essv5128311,essv5139682,essv5105407,essv5062121,essv5136820,essv5081813,essv5143636,essv5065830,essv5024224,essv5052999,essv5063145,essv5049967,essv5130695,essv5065486,essv5008722,essv5025830,essv5080711,essv5055421,essv5132720,essv5124167,essv5087844,essv5068250,essv5049278,essv5029907,essv5154099,essv5133723,essv5091062,essv5016891,essv5044980,essv5016460,essv5101788,essv5057099,essv5098994,essv5063238,essv5071054,essv5121079,essv5071105,essv5094467,essv5085412,essv5027074,essv5150124,essv5020162,essv5038765,essv5012175,essv5027798,essv5085003,essv5143367,essv5071529,essv5115032,essv5054584,essv5131171,essv5111894,essv5090761,essv5047057,essv5099453,essv5160820,essv5006459,essv5041687,essv5038738,essv5088042,essv5069795,essv5091446,essv5017712,essv5094313,essv5128465,essv5126195,essv5160589,essv5085441,essv5159172,essv5153968,essv5022068,essv5131397,essv5077057,essv5030065,essv5024581,essv5157248,essv5024276,essv5044143,essv5104877,essv5032112,essv5025139,essv5121168,essv5047991,essv5037008,essv5054797,essv5002671,essv5036433,essv5042661,essv5025610,essv5116067,essv5050523,essv5091473,essv5009888,essv5091885,essv5034737,essv5007849,essv5151364,essv5027076,essv5096162,essv5086719,essv5098356,essv5121180,essv5042001,essv5123137,essv5137627,essv5117239,essv5044892,essv5009341,essv5025771,essv5064559,essv5125824,essv5090158,essv5092196,essv5025196,essv5075272,essv5047637,essv5158853,essv5018463,essv5143310,essv5109706,essv5097156,essv5048453,essv5026384,essv5049335,essv5044388,essv5049376,essv5028793,essv5087221,essv5081765,essv5096492,essv5158535,essv5067154,essv5139732,essv5040015,essv5063918,essv5049594,essv5055474,essv5048468,essv5121606,essv5147765,essv5145046,essv5044325,essv5138881,essv5157890,essv5092147,essv5017498,essv5066190,essv5039360,essv5091835,essv5129756,essv5046821,essv5007754,essv5013843,essv5103511,essv5056603,essv5157780,essv5066439,essv5065592,essv5014414,essv5042070,essv5149987,essv5064491,essv5124256,essv5042483,essv5022186,essv5128209,essv5160199,essv5155134,essv5124951,essv5103202,essv5100434,essv5029330,essv5049344,essv5026976,essv5004987,essv5012808,essv5146592,essv5010105,essv5117734,essv5123964,essv5149093,essv5156321,essv5105875,essv5042586,essv5115155,essv5122746,essv5011677,essv5035969,essv5073715,essv5135809,essv5137080,essv5047692,essv5143213,essv5128988,essv5028607,essv5152393,essv5084110,essv5108643,essv5120268,essv5079218,essv5056500,essv5059070,essv5034097,essv5120868,essv5009038,essv5120313,essv5044075,essv5146696,essv5114942,essv5090665,essv5032015,essv5014592,essv5145768,essv5008784,essv5030274,essv5123600,essv5068535,essv5040957,essv5041437,essv5113390,essv5115334,essv5157114,essv5056683,essv5095800,essv5032837,essv5103411,essv5048495,essv5053838,essv5053369,essv5044884,essv5085055,essv5111095,essv5021862,essv5003620,essv5005439,essv5013891,essv5076064,essv5018169,essv5038454,essv5137752,essv5064847,essv5141319,essv5113684,essv5126428,essv5110377,essv5035129,essv5018647,essv5093623,essv5099256,essv5022267,essv5014232,essv5007356,essv5117517,essv5006901,essv5134455,essv5014691,essv5069960,essv5124109,essv5099980,essv5015028,essv5097793,essv5144305,essv5027154,essv5147644,essv5084278,essv5006433,essv5157511,essv5126699,essv5127692,essv5130308,essv5102074,essv5109740,essv5044742,essv5090106,essv5062856,essv5122807,essv5126762,essv5109900,essv5069346,essv5149595,essv5143846,essv5144902,essv5098759,essv5051571,essv5148774,essv5154176,essv5118806,essv5094773,essv5120474,essv5101108,essv5138571,essv5147580,essv5039062,essv5106457,essv5019441,essv5107014,essv5090203,essv5064331,essv5072672,essv5057803 M 1184 0 413 "" NA06993,NA06994,NA07014,NA07029,NA07031,NA07037,NA07345,NA07347,NA07348,NA07349,NA07357,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10852,NA10853,NA10856,NA10859,NA10861,NA10865,NA11829,NA11843,NA11881,NA11892,NA11893,NA11917,NA11918,NA11920,NA11930,NA11931,NA11993,NA11995,NA12005,NA12006,NA12044,NA12045,NA12144,NA12145,NA12146,NA12234,NA12249,NA12273,NA12275,NA12286,NA12287,NA12335,NA12336,NA12341,NA12343,NA12375,NA12399,NA12413,NA12489,NA12707,NA12716,NA12748,NA12749,NA12750,NA12760,NA12761,NA12762,NA12776,NA12801,NA12812,NA12813,NA12818,NA12827,NA12829,NA12830,NA12874,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA17966,NA17972,NA17975,NA17976,NA17977,NA17980,NA17981,NA17993,NA17995,NA17996,NA18102,NA18105,NA18114,NA18118,NA18122,NA18131,NA18132,NA18134,NA18139,NA18143,NA18144,NA18147,NA18148,NA18152,NA18153,NA18155,NA18156,NA18159,NA18162,NA18486,NA18499,NA18506,NA18507,NA18508,NA18518,NA18520,NA18526,NA18532,NA18534,NA18546,NA18548,NA18555,NA18559,NA18561,NA18562,NA18563,NA18572,NA18592,NA18595,NA18596,NA18599,NA18609,NA18611,NA18615,NA18621,NA18623,NA18628,NA18630,NA18633,NA18637,NA18638,NA18639,NA18642,NA18643,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18747,NA18748,NA18757,NA18852,NA18912,NA18917,NA18930,NA18949,NA18953,NA18959,NA18963,NA18964,NA18967,NA18968,NA18974,NA18976,NA18977,NA18980,NA18981,NA18991,NA18993,NA18997,NA18998,NA18999,NA19000,NA19005,NA19009,NA19010,NA19038,NA19055,NA19057,NA19058,NA19060,NA19068,NA19072,NA19074,NA19075,NA19078,NA19080,NA19086,NA19098,NA19101,NA19102,NA19119,NA19128,NA19129,NA19137,NA19139,NA19143,NA19144,NA19150,NA19151,NA19159,NA19171,NA19172,NA19173,NA19203,NA19207,NA19209,NA19211,NA19214,NA19235,NA19237,NA19239,NA19240,NA19248,NA19249,NA19256,NA19258,NA19308,NA19309,NA19332,NA19375,NA19376,NA19379,NA19390,NA19440,NA19466,NA19625,NA19651,NA19653,NA19657,NA19658,NA19659,NA19663,NA19665,NA19669,NA19670,NA19671,NA19676,NA19677,NA19681,NA19703,NA19708,NA19711,NA19713,NA19719,NA19721,NA19725,NA19726,NA19746,NA19749,NA19750,NA19751,NA19756,NA19757,NA19770,NA19773,NA19774,NA19776,NA19777,NA19788,NA19790,NA19795,NA19796,NA19900,NA19901,NA19902,NA20127,NA20287,NA20291,NA20292,NA20294,NA20295,NA20317,NA20319,NA20335,NA20345,NA20348,NA20359,NA20364,NA20502,NA20504,NA20505,NA20506,NA20515,NA20520,NA20522,NA20525,NA20527,NA20531,NA20535,NA20539,NA20541,NA20542,NA20543,NA20544,NA20582,NA20588,NA20752,NA20754,NA20755,NA20756,NA20757,NA20758,NA20766,NA20768,NA20769,NA20771,NA20772,NA20775,NA20778,NA20785,NA20786,NA20787,NA20792,NA20795,NA20799,NA20801,NA20802,NA20803,NA20808,NA20810,NA20811,NA20812,NA20813,NA20816,NA20818,NA20849,NA20856,NA20862,NA20871,NA20877,NA20883,NA20884,NA20887,NA20888,NA20889,NA20890,NA20891,NA20899,NA20901,NA20902,NA20906,NA20907,NA20909,NA21086,NA21091,NA21092,NA21097,NA21099,NA21100,NA21101,NA21102,NA21104,NA21108,NA21109,NA21112,NA21116,NA21123,NA21137,NA21142,NA21143,NA21144,NA21297,NA21300,NA21302,NA21303,NA21317,NA21333,NA21353,NA21355,NA21357,NA21381,NA21382,NA21383,NA21384,NA21388,NA21389,NA21390,NA21400,NA21414,NA21415,NA21424,NA21425,NA21447,NA21448,NA21453,NA21485,NA21487,NA21493,NA21494,NA21509,NA21523,NA21525,NA21528,NA21580,NA21582,NA21596,NA21599,NA21614,NA21634,NA21636,NA21647,NA21685,NA21693,NA21716,NA21718,NA21722,NA21723,NA21738,NA21741 nsv442509 8 25030439 25040250 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv32992 8 25034999 25047279 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98655 S 51 0 1 "" 21606 nsv824571 8 25035374 25035890 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427452 S 31 0 1 "" NA18968 nsv890684 8 25040703 25135419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591731 S 6533 0 1 DOCK5 IS39011 nsv508500 8 25046236 25131408 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620005,nssv618829,nssv622592 M 4 0 3 DOCK5 NA10860,NA15510,NA18994 nsv8328 8 25047579 25050567 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17104 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv521360 8 25066422 25084588 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697970 S 2026 0 1 "" nsv890685 8 25066422 25135419 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537086,nssv1600928,nssv1550416,nssv1556620,nssv1567201 M 6533 1 4 DOCK5 IS31046,IS41948,MS13095,MS18431,MS22104 dgv7763n71 8 25081094 25135419 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890687,nsv890686 M 6533 0 2 DOCK5 IS31041,IS41224 nsv6124 8 25107348 25141729 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4611,nssv1727,nssv3635 M 9 0 3 DOCK5 NA12878,NA18555,NA19129 nsv511383 8 25117724 25127659 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625990 S 1 0 1 DOCK5 1 nsv890688 8 25117724 25191541 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534034 S 6533 0 1 DOCK5 MS11431 nsv436568 8 25119647 25127220 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466447 S 2 0 1 Samples from several populations that are part of the HapMap project. DOCK5 NA18505 esv2468745 8 25120620 25127951 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210953 S 1 0 1 DOCK5 NA18507 esv2623034 8 25121854 25127178 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287950 S 1 0 1 DOCK5 NA18507 nsv512036 8 25122397 25126821 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624585 S 1 0 1 DOCK5 1 esv2232393 8 25122398 25126763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4747198 S 1 0 1 DOCK5 NA18507 esv994520 8 25122429 25126744 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565114 S 3 0 1 DOCK5 HuRef nsv820034 8 25122547 25126603 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419601 S 2 1 0 DOCK5 AK1 esv4966 8 25122559 25126702 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27407 S 1 0 1 Single Asian sample YH DOCK5 YH nsv499572 8 25122595 25126577 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586073 S 9 0 1 DOCK5 dgv243n6 8 25122596 25126576 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396934,nsv397342 M 24 DOCK5 dgv1176n67 8 25122597 25126577 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824576,nsv824572,nsv824573,nsv824577,nsv824574 M 31 0 30 DOCK5 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820928 8 25122597 25126577 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420752 S 1 0 1 DOCK5 NA10851 esv6383 8 25122608 25126566 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28824 S 1 0 1 DOCK5 SJK esv25667 8 25122647 25126577 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19276 S 451 27 0 DOCK5 NA07037,NA07045,NA11894,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19240,NA19257 nsv514486 8 25123024 25126496 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627948 S 1414 0 1 DOCK5 nsv824578 8 25124562 25126139 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438945 S 31 0 1 DOCK5 NA18973 nsv511393 8 25127659 25135741 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626000 S 1 1 0 DOCK5 1 nsv819560 8 25129709 25130278 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418844 S 2 0 1 DOCK5 AK1 esv1007835 8 25130024 25130471 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586341 S 3 1 0 DOCK5 HuRef esv22943 8 25176416 25180573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12786 S 451 0 2 DOCK5 NA18508,NA19225 nsv890689 8 25180267 25774992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580995 S 6533 1 0 CDCA2,DOCK5,EBF2,GNRH1,KCTD9 IS35484 esv269902 8 25228544 25228868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558141,essv2565761,essv2540892,essv2571575,essv2546582,essv2521305,essv2526119,essv2542532,essv2522830,essv2544146,essv2570858,essv2556789,essv2568301,essv2545510,essv2523143,essv2532012,essv2577419,essv2570707,essv2521750,essv2576883,essv2525450,essv2550496,essv2535232,essv2553972,essv2544507,essv2552138,essv2520298,essv2547133,essv2529203,essv2558477,essv2564380,essv2577792,essv2576392,essv2520112,essv2564180,essv2554844,essv2561813,essv2537189,essv2528262,essv2546774,essv2540026,essv2552433,essv2551940,essv2532097,essv2562768,essv2569550,essv2578597,essv2558889,essv2536967,essv2527184,essv2561709,essv2544879,essv2563053,essv2523798,essv2541096,essv2538221,essv2542713,essv2540580,essv2524501,essv2564829,essv2534958,essv2560973,essv2539847,essv2549224,essv2519534,essv2559950,essv2522129,essv2566179,essv2531192,essv2532731,essv2567807,essv2529028,essv2567606,essv2541774,essv2570047,essv2563623,essv2553119,essv2535753,essv2572203,essv2559020,essv2542134,essv2569192,essv2562481,essv2578245,essv2555217,essv2533590,essv2555497,essv2567091,essv2566619,essv2573833,essv2556071,essv2531678,essv2573481,essv2543125,essv2571873,essv2525666,essv2529485,essv2575789,essv2575181,essv2538677,essv2526540,essv2524048,essv2560851,essv2574748,essv2545076,essv2560406,essv2549788,essv2551290,essv2536044,essv2537978,essv2548855,essv2533300,essv2554556,essv2547845,essv2525087 M 157 115 0 Samples from several populations that are part of the HapMap project. DOCK5 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12814,NA12815,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18489,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18856,NA18861,NA18909,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18951,NA18956,NA18961,NA18964,NA18965,NA18973,NA18980,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19137,NA19138,NA19172,NA19190,NA19225,NA19257 esv272464 8 25228546 25228868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582352,essv2582950,essv2584388,essv2584469,essv2583448 M 7 5 0 Samples from several populations that are part of the HapMap project. DOCK5 NA12891,NA12892,NA19238,NA19239,NA19240 esv2376511 8 25259817 25260403 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770332 S 1 0 1 DOCK5 NA18507 esv989370 8 25259992 25260216 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567001 S 3 0 1 DOCK5 HuRef nsv396824 8 25259993 25260217 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415402 M 24 DOCK5 esv6612 8 25260000 25260222 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29053 S 1 0 1 DOCK5 SJK nsv397748 8 25282586 25282586 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416326 M 24 DOCK5 nsv527803 8 25294379 25296354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704297 S 2026 0 1 DOCK5 dgv453n21 8 25311501 25321843 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv519361,nsv526195 M 2026 0 3 DOCK5 nsv6125 8 25323799 25358111 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv724 S 9 1 0 DOCK5,GNRH1,KCTD9 NA19240 essv1351 8 25324942 25478051 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CDCA2,DOCK5,GNRH1,KCTD9 NA19007 esv2307416 8 25382950 25383373 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4990107 S 1 0 1 CDCA2 NA18507 esv999925 8 25383138 25383194 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573240 S 3 0 1 CDCA2 HuRef esv1305754 8 25383138 25383195 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693248 S 2 0 1 CDCA2 HuRef nsv396689 8 25383139 25383195 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415267 M 24 CDCA2 esv259811 8 25405396 25405762 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401139,essv2398093,essv2398545,essv2398853,essv2400169,essv2399417,essv2400120,essv2399533 M 144 0 0 Samples from several populations that are part of the HapMap project. CDCA2 NA11931,NA12144,NA18516,NA18582,NA18608,NA18858,NA18861,NA19137 nsv819420 8 25421046 25421273 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419314 S 2 0 1 CDCA2 AK1 nsv437611 8 25450071 25472750 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467492 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv6126 8 25451542 25529181 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5068,nssv8475 M 9 0 2 "" NA12156,NA19129 dgv145n17 8 25463222 25474125 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437062,nsv437063,nsv437064 M 60 0 3 "" NA06991,NA10846,NA10861 nsv8329 8 25464392 25472676 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17125,nssv16556,nssv16554 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18975,NA18980,NA19007 esv5389 8 25466564 25472644 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27830 S 1 0 1 Single Asian sample YH "" YH esv28398 8 25466585 25472535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9751 S 451 0 3 "" NA11931,NA19129,NA19257 nsv499647 8 25466595 25472556 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586074 S 9 0 1 "" esv9293 8 25466600 25472556 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31734 S 1 0 1 "" SJK nsv515076 8 25467608 25470884 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627949 S 1414 0 0 "" nsv438047 8 25467962 25470607 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469815,nssv469821,nssv469817,nssv469814,nssv469816,nssv469819,nssv469813,nssv469820 M 269 0 8 Samples from several populations that are part of the HapMap project. "" NA06991,NA06993,NA10846,NA10861,NA11994,NA12144,NA19127,NA19129 esv2421919 8 25468655 25471186 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5019827,essv5075721,essv5050192,essv5094488,essv5054053,essv5089631,essv5107995,essv5093507,essv5121082,essv5084350,essv5022046,essv5003785,essv5003043,essv5139947,essv5125790,essv5016006,essv5073039,essv5064210,essv5041956,essv5077618,essv5010841,essv5114119,essv5131699,essv5146907,essv5141467,essv5081099,essv5056638,essv5137296,essv5080381,essv5008209,essv5052851,essv5095199,essv5120568,essv5015749,essv5062045,essv5073153,essv5057656,essv5117049,essv5105378,essv5108796,essv5076600,essv5156640,essv5046836,essv5139795,essv5133281,essv5082488,essv5039615,essv5080370,essv5081504,essv5146778,essv5041769,essv5128943,essv5118780,essv5140896,essv5087839,essv5130782,essv5145429,essv5137234,essv5034898,essv5070438,essv5150288,essv5094001,essv5055557,essv5145182,essv5009240,essv5090136,essv5039030,essv5134547,essv5061822,essv5022905,essv5007471,essv5124838,essv5130905,essv5025582,essv5146300,essv5026427,essv5005414,essv5095273,essv5041202,essv5157054 M 1184 0 80 "" NA06991,NA06993,NA07435,NA10846,NA11931,NA11994,NA12144,NA12146,NA12264,NA12546,NA12813,NA12842,NA12874,NA18118,NA18127,NA18136,NA18143,NA18608,NA18623,NA18939,NA18952,NA18975,NA18980,NA19005,NA19007,NA19081,NA19094,NA19107,NA19119,NA19127,NA19129,NA19257,NA19452,NA19658,NA19659,NA19660,NA19663,NA19664,NA19665,NA19682,NA19683,NA19712,NA19749,NA19751,NA19755,NA19757,NA19771,NA19780,NA19783,NA19921,NA20522,NA20539,NA20543,NA20765,NA20775,NA20797,NA20806,NA20828,NA20849,NA20862,NA20873,NA20874,NA20875,NA20876,NA20879,NA20885,NA20889,NA20899,NA20902,NA20908,NA21092,NA21094,NA21100,NA21108,NA21109,NA21144,NA21307,NA21616,NA21632,NA21693 nsv824579 8 25468735 25470684 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432178 S 31 0 1 "" AK20 esv1533311 8 25509736 25509915 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4193315 S 2 0 1 "" HuRef dgv454n21 8 25575129 25628787 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517955,nsv528079 M 2026 0 2 "" dgv882n27 8 25575129 25628787 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465624,nsv465623 M 1557 0 2 "" 1798860587_A,HGDP00888 nsv465625 8 25582234 25595747 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541400 S 1557 0 1 "" 1780854327_A dgv455n21 8 25601673 25707517 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv520516,nsv522868 M 2026 0 2 "" esv24035 8 25606739 25607535 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18989 S 451 0 1 "" NA19108 nsv509256 8 25628066 25650137 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619523 S 4 1 0 "" NA10860 esv26152 8 25633694 25649822 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20153 S 451 4 0 "" NA11894,NA11931,NA11993,NA12414 nsv507449 8 25681826 25687826 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623032,nssv621909 M 4 2 0 "" NA10860,NA18994 essv17389 8 25737239 25763131 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. EBF2 NA18855 esv32961 8 25755569 25857299 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99541 S 51 1 0 EBF2 22335 nsv831272 8 25799620 25962090 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447005,nssv1447004 M 95 1 1 EBF2 esv1009767 8 25802624 25806649 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564426 S 3 1 0 EBF2 HuRef nsv524032 8 25810608 25812598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699895 S 2026 0 1 EBF2 nsv6127 8 25855937 25888559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1728 S 9 1 0 EBF2 NA18555 esv267421 8 25877577 25877836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511903,essv2493229,essv2501064,essv2498567,essv2505744,essv2507219,essv2504699,essv2498905 M 157 8 0 Samples from several populations that are part of the HapMap project. EBF2 NA18499,NA18504,NA18856,NA18858,NA18861,NA18870,NA19099,NA19138 esv1420594 8 25918701 25918701 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993049 S 2 1 0 EBF2 HuRef esv1423053 8 25918751 25918751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3595548 S 2 1 0 EBF2 HuRef esv2500463 8 25940366 25941464 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242848 S 1 1 0 EBF2 NA18507 esv1052787 8 25940995 25940995 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699568 S 2 1 0 EBF2 HuRef nsv6128 8 25973925 26018715 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1729 S 9 0 1 "" NA18555 nsv6129 8 25995446 26029522 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3636 S 9 1 0 "" NA12878 esv268505 8 26001616 26001937 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511731,essv2494911,essv2507192,essv2507332,essv2495659,essv2501340,essv2504755,essv2509605,essv2510381,essv2496954,essv2502160 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18520,NA18870,NA18912,NA18916,NA19093,NA19099,NA19129,NA19172,NA19190,NA19257 nsv890690 8 26100359 26177952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529815 S 6533 0 1 "" MS10123 esv2011639 8 26126589 26127022 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949728 S 1 0 1 "" NA18507 esv1722131 8 26126791 26126840 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017712 S 2 0 1 "" HuRef esv2614242 8 26128713 26129773 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252181 S 1 1 0 "" NA18507 nsv396565 8 26129941 26129941 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415143 M 24 "" nsv396336 8 26129943 26129943 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414914 M 24 "" esv1762447 8 26135207 26135398 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219960 S 2 0 1 "" HuRef esv32875 8 26159204 26159859 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95813 S 51 1 0 "" 21911 esv2495705 8 26223213 26223896 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163527 S 1 1 0 PPP2R2A NA18507 esv269537 8 26271534 26271654 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510159,essv2508008,essv2512435,essv2512203,essv2493409,essv2508801,essv2500317 M 157 7 0 Samples from several populations that are part of the HapMap project. PPP2R2A NA11829,NA12003,NA12043,NA12155,NA12763,NA12878,NA12891 esv273393 8 26271538 26271876 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584253,essv2583446 M 7 2 0 Samples from several populations that are part of the HapMap project. PPP2R2A NA19238,NA19240 nsv831273 8 26272422 26426708 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447007 S 95 0 1 BNIP3L,PNMA2,PPP2R2A nsv824580 8 26325274 26326506 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432179 S 31 1 0 BNIP3L AK20 nsv519912 8 26388640 26404795 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697120 S 2026 1 0 "" dgv7764n71 8 26388640 26460941 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890692,nsv890691 M 6533 0 2 DPYSL2,PNMA2 MS11249,MS11703 nsv6130 8 26473239 26508259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6211,nssv2784 M 9 2 0 DPYSL2 NA12156,NA18555 nsv824581 8 26487426 26497192 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428426 S 31 1 0 DPYSL2 AK10 esv988025 8 26503836 26503836 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572232 S 3 1 0 DPYSL2 HuRef nsv465626 8 26544163 26564684 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541401 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPYSL2 HGDP00553 esv267598 8 26585067 26585208 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510219,essv2496692,essv2511215,essv2495384,essv2511725,essv2504118,essv2505959,essv2503109,essv2506524,essv2509560,essv2499737 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11894,NA11931,NA12287,NA18499,NA18505,NA18861,NA18943,NA19108,NA19129,NA19225 esv1640814 8 26593908 26593908 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4194872 S 2 1 0 "" HuRef nsv890693 8 26607333 26630770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555367 S 6533 0 1 "" MS21294 nsv437065 8 26621687 26637085 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466946 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv527478 8 26764903 26889115 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703922 S 2026 1 0 ADRA1A esv274600 8 26798443 26798633 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580245,essv2579871,essv2580735,essv2579610 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv270759 8 26798445 26798659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496644,essv2506769,essv2499392,essv2500212,essv2502578,essv2508861,essv2502829,essv2502978,essv2496179,essv2494941,essv2494631,essv2499967,essv2508232,essv2499865,essv2504517,essv2507908,essv2506330,essv2511256,essv2500663,essv2494470,essv2500122,essv2512675,essv2508160,essv2496126,essv2499302,essv2501597,essv2507481,essv2505767,essv2495687,essv2511669,essv2504889,essv2503083,essv2502489,essv2512344,essv2505464,essv2497426,essv2503727,essv2495987,essv2495124,essv2502654,essv2500709,essv2512807,essv2506612,essv2498932,essv2512144,essv2498250,essv2495010 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11894,NA11918,NA11994,NA12006,NA12750,NA12878,NA12892,NA18507,NA18511,NA18520,NA18550,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18603,NA18605,NA18608,NA18638,NA18861,NA18916,NA18940,NA18942,NA18943,NA18948,NA18949,NA18952,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19108,NA19138,NA19238,NA19240 nsv524598 8 26814567 26818151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700559 S 2026 0 1 "" nsv519039 8 26820864 26845125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696508 S 2026 0 1 "" esv259984 8 26912276 26914058 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400282,essv2399251 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12154,NA18508 esv24904 8 26927520 26929851 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20842 S 451 0 4 "" NA07045,NA11894,NA18909,NA19190 nsv471728 8 26935177 26936925 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646009 M 0.021 95 "" nsv442103 8 26935440 26942727 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv831274 8 26980569 27191083 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447008 S 95 1 0 STMN4 nsv890694 8 27009718 27057092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517086 S 6533 1 0 "" SP57163 nsv510979 8 27052200 27119357 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624324,nssv621607,nssv618609 M 4 0 0 "" CHM,NA15510,NA18994 nsv507450 8 27065452 27071452 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621910 S 4 1 0 "" NA10860 esv271311 8 27098538 27098722 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511914,essv2510684,essv2493290,essv2494651,essv2494982,essv2509512,essv2502268 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18504,NA18519,NA18520,NA19129,NA19257 nsv6131 8 27151734 27196834 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8476 S 9 0 1 STMN4 NA12156 esv2092173 8 27236059 27236496 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681284 S 1 0 1 PTK2B NA18507 nsv471719 8 27236168 27236380 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646000 M 0.238 95 PTK2B esv2430348 8 27351471 27352221 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277277 S 1 1 0 PTK2B NA18507 nsv890695 8 27358932 27390886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529294 S 6533 1 0 CHRNA2,PTK2B SP81500 nsv831275 8 27384207 27537524 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447009 S 95 0 1 CHRNA2,CLU,EPHX2 nsv890696 8 27433079 27496927 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529295 S 6533 1 0 EPHX2 SP81500 esv28788 8 27437702 27438927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9814 S 451 0 1 EPHX2 NA07045 nsv890697 8 27441367 27461124 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585399 S 6533 0 1 EPHX2 IS37443 nsv437612 8 27458049 27461726 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467493 S 60 0 1 Samples from several populations that are part of the HapMap project. EPHX2 NA19094 nsv526133 8 27493305 27506452 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702387 S 2026 0 1 "" nsv890698 8 27573740 27590646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499822 S 6533 0 1 SCARA3 SP50159 nsv397633 8 27574094 27574164 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416211 M 24 SCARA3 nsv890699 8 27670815 27749688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550417 S 6533 1 0 CCDC25,ESCO2,PBK MS18431 nsv397387 8 27673067 27673215 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415965 M 24 CCDC25 nsv507451 8 27681288 27687288 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623033 S 4 1 0 CCDC25 NA18994 nsv528584 8 27684805 27685724 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705206 S 2026 1 0 CCDC25 nsv524133 8 27689983 27772227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700011 S 2026 0 1 ESCO2,PBK nsv519636 8 27691536 27745224 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696963 S 2026 1 0 ESCO2,PBK nsv890700 8 27701623 27758372 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567780 S 6533 0 1 ESCO2,PBK IS31145 nsv397930 8 27716070 27718723 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416508 M 24 ESCO2 esv3365 8 27718342 27718858 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25806 S 1 0 1 Single Asian sample YH ESCO2 YH esv4741 8 27739900 27740455 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27182 S 1 0 1 Single Asian sample YH PBK YH nsv398258 8 27739980 27740265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416836 M 24 PBK esv23502 8 27744009 27745001 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14357 S 451 0 1 PBK NA18916 nsv824582 8 27749937 27758161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429194 S 31 0 1 PBK AK12 nsv510139 8 27758796 27764796 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624062 S 4 0 1 "" NA18994 nsv397623 8 27768541 27771798 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416201 M 24 "" esv8961 8 27778526 27779102 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31402 S 1 0 0 "" SJK nsv6133 8 27784584 27817389 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv725 S 9 1 0 MIR4287,SCARA5 NA19240 nsv509259 8 27793655 27924490 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623532 S 4 1 0 MIR4287,SCARA5 NA18994 esv28266 8 27796133 27796807 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19685 S 451 1 0 SCARA5 NA12044 esv1383761 8 27832093 27832147 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187820 S 2 0 1 SCARA5 HuRef nsv396611 8 27832094 27832147 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415189 M 24 SCARA5 nsv524295 8 27974287 27979307 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700196 S 2026 0 1 C8orf80 nsv521155 8 27990118 27990592 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683113,nssv686513 M 2026 0 2 C8orf80 nsv890701 8 28017798 28066473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552127 S 6533 0 1 ELP3 MS19226 nsv398063 8 28026902 28026902 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416641 M 24 ELP3 esv994772 8 28026904 28026909 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571724 S 3 1 0 ELP3 HuRef nsv524953 8 28132190 28181198 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700974 S 2026 1 0 "" esv32577 8 28133065 28142218 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100755,essv98172 M 51 0 2 "" 21656,21772 esv33323 8 28163974 28170312 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100837 S 51 0 1 "" 21656 esv32982 8 28191137 28200833 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98825,essv99859 M 51 0 2 "" 21606,22086 nsv520948 8 28202619 28202672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678230,nssv685450 M 2026 0 2 "" nsv6134 8 28208420 28243561 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3638 S 9 1 0 PNOC NA12878 dgv456n21 8 28234932 28381330 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524153,nsv518985 M 2026 2 0 FBXO16,PNOC,ZNF395 nsv819240 8 28256315 28256843 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418984 S 2 1 0 PNOC AK1 nsv6135 8 28263596 28308463 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5069 S 9 0 1 ZNF395 NA19129 nsv824583 8 28265570 28337441 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427474 S 31 1 0 ZNF395 NA18968 nsv824584 8 28286968 28331612 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441183 S 31 1 0 ZNF395 NA18969 esv29926 8 28333874 28340213 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15534 S 451 1 0 "" NA11995 nsv527661 8 28352090 28360688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704133 S 2026 0 1 FBXO16 esv27064 8 28366687 28368233 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20174 S 451 0 2 FBXO16 NA18858,NA19225 esv1008413 8 28629626 28635244 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563862 S 3 0 1 EXTL3 HuRef nsv820071 8 28804164 28804937 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419083 S 2 1 0 HMBOX1 AK1 nsv526818 8 28825166 28828062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703172 S 2026 0 1 HMBOX1 nsv6136 8 28871609 28904402 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3639 S 9 1 0 HMBOX1 NA12878 nsv398424 8 28873658 28873658 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417002 M 24 HMBOX1 nsv831276 8 28972457 29123109 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447010 S 95 1 0 KIF13B esv5693 8 29124094 29124157 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28134 S 1 1 0 KIF13B SJK nsv528871 8 29164298 29166073 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705551 S 2026 0 1 KIF13B esv2501473 8 29173003 29174459 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355948 S 1 0 1 KIF13B NA18507 esv2472991 8 29234650 29241586 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301195 S 1 0 1 "" NA18507 esv1082464 8 29241106 29241431 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106357 S 2 0 1 "" HuRef esv999062 8 29320803 29332338 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565507 S 3 0 1 "" HuRef esv23046 8 29505942 29507159 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11705 S 451 0 1 "" NA18909 esv1378838 8 29518390 29518464 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3809101 S 2 0 1 "" HuRef nsv398265 8 29527103 29528563 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416843 M 24 "" nsv6137 8 29817844 29847758 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8477 S 9 0 1 "" NA12156 esv2437237 8 29842096 29843615 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286101 S 1 0 1 "" NA18507 nsv831277 8 29954486 30157355 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447011 S 95 1 0 DCTN6,LEPROTL1,MBOAT4,TMEM66 esv7056 8 29957079 29957872 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29497 S 1 0 1 "" SJK nsv395926 8 29957081 29957827 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414504 M 24 "" esv24260 8 29957137 29957822 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17484 S 451 35 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821082 8 29957137 29957822 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420753 S 1 0 1 "" NA10851 nsv517326 8 30004340 30038184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688489,nssv651725,nssv678638,nssv691050,nssv671502,nssv699628 M 2026 0 6 "" esv1702060 8 30020809 30020809 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052005 S 2 1 0 "" HuRef nsv6138 8 30061264 30095696 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2785 S 9 1 0 LEPROTL1 NA18555 nsv6139 8 30123873 30169183 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8478 S 9 0 1 DCTN6 NA12156 esv2022207 8 30191913 30192323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977015 S 1 0 1 "" NA18507 esv989615 8 30230656 30242540 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565255 S 3 0 1 "" HuRef nsv518061 8 30285744 30288664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695472 S 2026 0 1 "" nsv526509 8 30305114 30620257 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702819 S 2026 1 0 GTF2E2,LOC100507341,RBPMS nsv509260 8 30325576 30383038 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623533,nssv620905 M 4 2 0 RBPMS NA15510,NA18994 nsv890702 8 30357424 30400375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503473 S 6533 0 1 RBPMS SP52060 esv2585826 8 30510868 30512574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319599 S 1 0 1 RBPMS NA18507 esv2367432 8 30511634 30512326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4951472 S 1 0 1 RBPMS NA18507 esv4813 8 30511787 30512223 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27254 S 1 0 1 Single Asian sample YH RBPMS YH nsv396470 8 30511820 30512123 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415048 M 24 RBPMS esv988355 8 30511823 30512126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570859 S 3 0 1 RBPMS HuRef esv1086519 8 30511833 30512137 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021174 S 2 0 1 RBPMS HuRef esv6638 8 30511835 30512122 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29079 S 1 0 1 RBPMS SJK nsv528908 8 30535526 30540139 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705593 S 2026 0 1 RBPMS nsv890703 8 30581691 30685487 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555423 S 6533 0 1 GSR,GTF2E2,LOC100507341 MS21325 nsv516544 8 30655202 30680429 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663202,nssv662239,nssv661356,nssv654368,nssv663063,nssv679571,nssv669045 M 2026 0 7 GSR nsv824585 8 30702763 30704011 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438269 S 31 1 0 GSR NA18951 nsv512948 8 30717465 30717575 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625598 S 1 1 0 "" 1 esv1650098 8 30717527 30717527 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621811 S 2 1 0 "" HuRef esv2554093 8 30723161 30725972 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370973 S 1 0 1 UBXN8 NA18507 nsv819626 8 30723757 30725971 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419402 S 2 0 1 UBXN8 AK1 esv23174 8 30723896 30725134 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19703 S 451 0 3 UBXN8 NA18861,NA18916,NA19099 nsv824588 8 30724050 30725011 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435973,nssv1429942,nssv1435211,nssv1438946,nssv1437554,nssv1431440,nssv1432984,nssv1434523,nssv1436779 M 31 0 9 UBXN8 AK14,AK18,NA18542,NA18566,NA18570,NA18942,NA18949,NA18972,NA18973 esv2608027 8 30749690 30750729 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364678 S 1 1 0 "" NA18507 esv273921 8 30763533 30763618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581462 S 7 1 0 Samples from several populations that are part of the HapMap project. PPP2CB NA12878 nsv519692 8 30819036 30822067 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696995 S 2026 1 0 TEX15 nsv890704 8 30844664 30958088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589339 S 6533 1 0 "" IS38338 esv988366 8 30873939 30878767 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564232 S 3 1 0 "" HuRef esv2495342 8 30927945 30929383 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5365028 S 1 0 1 "" NA18507 nsv396112 8 30928094 30928365 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414690 M 24 "" esv2399275 8 30934574 30934993 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756709 S 1 0 1 "" NA18507 esv2312721 8 30961275 30961662 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691411 S 1 0 1 "" NA18507 nsv890705 8 30969282 31083753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550418 S 6533 1 0 PURG,WRN MS18431 nsv527651 8 30973934 30976006 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704122 S 2026 0 1 PURG esv22033 8 30997741 30998995 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10262 S 451 0 1 PURG NA07045 nsv890706 8 30998749 31011742 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505973,nssv1508340 M 6533 0 2 PURG,WRN SP54043,SP54725 nsv831278 8 31036526 31190448 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447013,nssv1447012 M 95 2 0 WRN nsv890707 8 31201548 31444861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561125 S 6533 0 1 "" MS24864 nsv465631 8 31266000 31293400 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541403 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00868 nsv507452 8 31296299 31302299 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620407,nssv617763,nssv621911,nssv623034 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv6140 8 31338113 31371627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2786 S 9 1 0 "" NA18555 esv271482 8 31360969 31361054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519199 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11894 nsv831279 8 31384433 31577178 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447014 S 95 1 0 "" nsv397118 8 31418379 31418428 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415696 M 24 "" nsv890708 8 31479891 31569311 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506233 S 6533 1 0 "" SP54083 nsv6141 8 31565847 31597328 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5070 S 9 1 0 "" NA19129 nsv890709 8 31615548 32140433 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506234 S 6533 1 0 NRG1 SP54083 nsv831280 8 31652473 31831039 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447015 S 95 0 1 NRG1 esv270947 8 31654357 31654442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516128 S 157 1 0 Samples from several populations that are part of the HapMap project. NRG1 NA12873 esv2638529 8 31689928 31691643 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360487 S 1 0 1 NRG1 NA18507 esv2167886 8 31690597 31691334 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625368 S 1 0 1 NRG1 NA18507 esv4933 8 31690739 31691188 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27374 S 1 0 1 Single Asian sample YH NRG1 YH nsv398284 8 31690784 31691136 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416862 M 24 NRG1 esv991445 8 31690787 31691137 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576514 S 3 0 1 NRG1 HuRef esv9668 8 31690795 31691140 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32109 S 1 0 1 NRG1 SJK esv1693112 8 31690797 31691150 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134539 S 2 0 1 NRG1 HuRef nsv6142 8 31722271 31754432 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5071 S 9 1 0 NRG1 NA19129 nsv831282 8 31891138 32062006 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447016 S 95 1 0 NRG1 esv1484590 8 31902229 31902229 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3994010 S 2 1 0 NRG1 HuRef esv274992 8 31952175 31959195 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585306,essv2585208 M 1250 1 1 NRG1 nsv890710 8 31979736 32079485 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542240 S 6533 0 1 NRG1 MS15727 nsv528531 8 32057067 32062099 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705142 S 2026 0 1 NRG1 nsv470207 8 32113352 32342747 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546718 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRG1 HGDP00654 nsv465632 8 32113352 32347468 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541404 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NRG1 HGDP00654 nsv890711 8 32158106 32223600 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550419 S 6533 1 0 NRG1 MS18431 nsv522780 8 32200083 32204713 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698422 S 2026 0 1 NRG1 nsv518140 8 32217872 32234798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695561 S 2026 0 1 NRG1 nsv397244 8 32268942 32270165 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415822 M 24 NRG1 esv275566 8 32269058 32275327 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586109 S 1250 0 1 NRG1 dgv1177n67 8 32271781 32274593 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824589,nsv824591,nsv824590 M 31 0 3 NRG1 NA18942,NA18949,NA18997 nsv510140 8 32390138 32396138 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622158,nssv618287,nssv624063,nssv621332 M 4 0 4 NRG1 CHM,NA10860,NA15510,NA18994 nsv526564 8 32437459 32439080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702880 S 2026 0 1 NRG1 nsv398013 8 32451733 32461657 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416591 M 24 NRG1 esv270557 8 32479492 32479831 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516780,essv2519168,essv2517381,essv2517114,essv2515396,essv2518476,essv2515065,essv2515690,essv2518007,essv2517849,essv2516276,essv2517215,essv2513844,essv2518937,essv2513726 M 157 15 0 Samples from several populations that are part of the HapMap project. NRG1 NA07347,NA11881,NA11894,NA11918,NA11931,NA12249,NA12287,NA12812,NA12815,NA12872,NA12878,NA12891,NA18970,NA19143,NA19239 esv274055 8 32479496 32479827 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582178,essv2582273,essv2583186 M 7 3 0 Samples from several populations that are part of the HapMap project. NRG1 NA12878,NA12891,NA12892 esv1412340 8 32491996 32491996 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978663 S 2 1 0 NRG1 HuRef esv275121 8 32549006 32563808 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586073 S 1250 0 1 NRG1 nsv465633 8 32567884 32609852 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541405 S 1557 0 1 NRG1 1780862194_A nsv397271 8 32609628 32611159 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415849 M 24 NRG1 nsv890712 8 32665458 32712169 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550420 S 6533 1 0 NRG1 MS18431 esv8345 8 32693538 32693612 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30786 S 1 1 0 NRG1 SJK nsv397437 8 32758267 32762736 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416015 M 24 "" nsv6144 8 32773134 32829181 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6212,nssv9746,nssv11182,nssv10614,nssv9458,nssv3640,nssv1730,nssv726,nssv5072 M 9 0 9 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv25 8 32780745 32824999 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv25 S 1 0 1 "" NA15510 esv1522142 8 32783569 32783627 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625911 S 2 0 1 "" HuRef nsv397341 8 32793267 32796907 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415919 M 24 "" dgv127n16 8 32797977 32811794 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436575,nsv435877 M 2 0 2 "" NA15510,NA18505 esv2640437 8 32798892 32810701 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259761 S 1 0 1 "" NA18507 esv2446152 8 32799055 32811616 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5347865 S 1 0 1 "" NA18507 dgv57n50 8 32799203 32812750 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511405,nsv512037 M 1 0 1 "" 1 nsv890713 8 32799312 32980815 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556262 S 6533 0 1 "" MS21868 nsv8330 8 32799314 32811127 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19543,nssv19557,nssv16940 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18853,NA19132 esv1953666 8 32799378 32811003 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565063 S 1 0 1 "" NA18507 esv3673 8 32799509 32810947 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26114 S 1 0 1 Single Asian sample YH "" YH esv8222 8 32799546 32810812 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30663 S 1 0 1 "" SJK nsv499383 8 32799547 32810808 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586075 S 9 0 1 "" dgv180e180 8 32799550 32811329 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010407,esv1008319 M 3 0 1 "" HuRef esv1029643 8 32799551 32810807 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706053 S 2 0 1 "" HuRef dgv1178n67 8 32799594 32811095 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824592,nsv824593,nsv824594 M 31 0 30 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820878 8 32799594 32811095 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420754 S 1 0 1 "" NA10851 esv28336 8 32799599 32810733 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16047 S 451 13 0 "" NA07045,NA12004,NA12006,NA12776,NA18508,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19225,NA19257 esv999779 8 32799813 32810855 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587179 S 3 1 0 "" HuRef nsv508501 8 32801153 32812935 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620006,nssv618830,nssv622593,nssv617359 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2421970 8 32802640 32807955 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084647,essv5098294,essv5128350,essv5086081,essv5107276,essv5088931,essv5149869,essv5012430,essv5080970,essv5161226,essv5132413,essv5089890,essv5069192,essv5033603,essv5140638,essv5061435,essv5071990,essv5111480,essv5129112,essv5060718,essv5034889,essv5011778,essv5030875,essv5014711,essv5152843,essv5006616,essv5079385,essv5106610,essv5100415,essv5110059,essv5110600,essv5050241,essv5002651,essv5053739,essv5117789,essv5158103,essv5039755,essv5136779,essv5073487,essv5064378,essv5031811,essv5158512,essv5109382,essv5092671,essv5080937,essv5089280,essv5131918,essv5015785,essv5069330,essv5083424,essv5133314,essv5160243,essv5037679,essv5008433,essv5117535,essv5099793,essv5108049,essv5104970,essv5023414,essv5093712,essv5027293,essv5081639,essv5028538,essv5160153,essv5046089,essv5153664,essv5099898,essv5057057,essv5150629,essv5004814,essv5069356,essv5158643,essv5100337,essv5071256,essv5058303,essv5032215,essv5057102,essv5020584,essv5143105,essv5117351,essv5009718,essv5140433,essv5154952,essv5021990,essv5033265,essv5132673,essv5044406,essv5138014,essv5018048,essv5038100,essv5047613,essv5013389,essv5048769,essv5004637,essv5075956,essv5091918,essv5057937,essv5088667,essv5097542,essv5049884,essv5066241,essv5077545,essv5122622,essv5045227,essv5006970,essv5120203,essv5079632,essv5049652,essv5047838,essv5005422,essv5109294,essv5050931,essv5067299,essv5156638,essv5087919,essv5041045,essv5156033,essv5053480,essv5060060,essv5028543,essv5019480,essv5009022,essv5118358,essv5154356,essv5108029,essv5007477,essv5093473,essv5136113,essv5066749,essv5110339,essv5131072,essv5055385,essv5123570,essv5097321,essv5119008,essv5059565,essv5151274,essv5145888,essv5143456,essv5131973,essv5134363,essv5085312,essv5036529,essv5139656,essv5095538,essv5031967,essv5093497,essv5159698,essv5158901,essv5111786,essv5095956,essv5061885,essv5005014,essv5120157,essv5110846,essv5157465,essv5140062,essv5126606,essv5122986,essv5142846,essv5003189,essv5117413,essv5124346,essv5008848,essv5148271,essv5111459,essv5128654,essv5034762,essv5002900,essv5129473,essv5029756,essv5052817,essv5019678,essv5040064,essv5046791,essv5073668,essv5029539,essv5056822,essv5079638,essv5137515,essv5141819,essv5108628,essv5063489,essv5021617,essv5047857,essv5158445,essv5021501,essv5134581,essv5126770,essv5049124,essv5018302,essv5098212,essv5026560,essv5017735,essv5114189,essv5104649,essv5068020,essv5081686,essv5124153,essv5105105,essv5034623,essv5005637,essv5064714,essv5056514,essv5111545,essv5136591,essv5143130,essv5099251,essv5117441,essv5043004,essv5022556,essv5138055,essv5116896,essv5093050,essv5048367,essv5073928,essv5105216,essv5154597,essv5002721,essv5105706,essv5079940,essv5129455,essv5156579,essv5115000,essv5093609,essv5128662,essv5077666,essv5093184,essv5082294,essv5109556,essv5075425,essv5132539,essv5056211,essv5089512,essv5154595,essv5037965,essv5109336,essv5067180,essv5101854,essv5032795,essv5148476,essv5130332,essv5141338,essv5051200,essv5061761,essv5053551,essv5052296,essv5156429,essv5159356,essv5056109,essv5112472,essv5030142,essv5099437,essv5008143,essv5049797,essv5039741,essv5022503,essv5107707,essv5036807,essv5102174,essv5078856,essv5153501,essv5132911,essv5131676,essv5034429,essv5073922,essv5156424,essv5136984,essv5004284,essv5076883,essv5142636,essv5063789,essv5022833,essv5122093,essv5057122,essv5140958,essv5105412,essv5084231,essv5155907,essv5046899,essv5054760,essv5118811,essv5045670,essv5123547,essv5137205,essv5123122,essv5031449,essv5083171,essv5061135,essv5011051,essv5145733,essv5036780,essv5090394,essv5132285,essv5110448,essv5071763,essv5092938,essv5050696,essv5153108,essv5096678,essv5070934,essv5142145,essv5152987,essv5055174,essv5004355,essv5060359,essv5095050,essv5069678,essv5025967,essv5092328,essv5021666,essv5044327,essv5014566,essv5053984,essv5018346,essv5137231,essv5022614,essv5155048,essv5037907,essv5013154,essv5068223,essv5068363,essv5153848,essv5086702,essv5030039,essv5032179,essv5052671,essv5127790,essv5151273,essv5136364,essv5101477,essv5081158,essv5145065,essv5115392,essv5090597,essv5128459,essv5147187,essv5118592,essv5093932,essv5142751,essv5160541,essv5152464,essv5097972,essv5154866,essv5087850,essv5022210,essv5118796,essv5006578,essv5134390,essv5081174,essv5049848,essv5141408,essv5095902,essv5155436,essv5121127,essv5134447,essv5036908,essv5054923,essv5023733,essv5033182,essv5048953,essv5035716,essv5055447,essv5092541,essv5084789,essv5128996,essv5120765,essv5125058,essv5069665,essv5043300,essv5078742,essv5160035,essv5106364,essv5091983,essv5036564,essv5111126,essv5144623,essv5141058,essv5051605,essv5136487,essv5082499,essv5119262,essv5065628,essv5147290,essv5139025,essv5131920,essv5049753,essv5109068,essv5037153,essv5138491,essv5132284,essv5005785,essv5057018,essv5062731,essv5132664,essv5056075,essv5047431,essv5140277,essv5088478,essv5159474,essv5152155,essv5077239,essv5008857,essv5101150,essv5104156,essv5140782,essv5117434,essv5098614,essv5013372,essv5043200,essv5037561,essv5104119,essv5028888,essv5057075,essv5153563,essv5144621,essv5037072,essv5152840,essv5124337,essv5146489,essv5119715,essv5129449,essv5115814,essv5044588,essv5127449,essv5048192,essv5018094,essv5032929,essv5062019,essv5081161,essv5140215,essv5096158,essv5003664,essv5087246,essv5068292,essv5105871,essv5133648,essv5091913,essv5088435,essv5096923,essv5121945,essv5047713,essv5140570,essv5038101,essv5019522,essv5095035,essv5034056,essv5114710,essv5077944,essv5022063,essv5021387,essv5102885,essv5120147,essv5006516,essv5148763,essv5154402,essv5031305,essv5122192,essv5025773,essv5084576,essv5145585,essv5016048,essv5086001,essv5157135,essv5056568,essv5022095,essv5103534,essv5020852,essv5140159,essv5058823,essv5143506,essv5116064,essv5012547,essv5153006,essv5017441,essv5017717,essv5103722,essv5064444,essv5052592,essv5160995,essv5089565,essv5053275,essv5126991,essv5090128,essv5013554,essv5029288,essv5011785,essv5158981,essv5098244,essv5127312,essv5153013,essv5006180,essv5128088,essv5008542,essv5125512,essv5146217,essv5138646,essv5042403,essv5129663,essv5096246,essv5084057,essv5045146,essv5109521,essv5046317,essv5123530,essv5031477,essv5005311,essv5114579,essv5040991,essv5095037,essv5135192,essv5116716,essv5086878,essv5140252,essv5135759,essv5059748,essv5157729,essv5143375,essv5033895,essv5014558,essv5126930,essv5008088,essv5069262,essv5143927,essv5098060,essv5099515,essv5081447,essv5101860,essv5043339,essv5100680,essv5038056,essv5142319,essv5059993,essv5084954,essv5095589,essv5057647,essv5150278,essv5019300,essv5095746,essv5128842,essv5026888,essv5149481,essv5053539,essv5032683,essv5125577,essv5071542,essv5129300,essv5057338,essv5060751,essv5094894,essv5112980,essv5142283,essv5036600,essv5145932,essv5051656,essv5030965,essv5084642,essv5119670,essv5065060,essv5131313,essv5146009,essv5100237,essv5145243,essv5132290,essv5157955,essv5094129,essv5093206,essv5114269,essv5105126,essv5087548,essv5143796,essv5095380,essv5146356,essv5078016,essv5087568,essv5036789,essv5081279,essv5074572,essv5053185,essv5050631,essv5061403,essv5059715,essv5124788,essv5036237,essv5027670,essv5041282,essv5062979,essv5133372,essv5072125,essv5029394,essv5007329,essv5033095,essv5085420,essv5086762,essv5020694,essv5133162,essv5144799,essv5052723,essv5038665,essv5046098,essv5135847,essv5155980,essv5036170,essv5003385,essv5003106,essv5075542,essv5017429,essv5046440,essv5056810,essv5087574,essv5149849,essv5002769,essv5004594,essv5156850,essv5075662,essv5107394,essv5161018,essv5088074,essv5115692,essv5029684,essv5002052,essv5085947,essv5128619,essv5034703,essv5104384,essv5149496,essv5076212,essv5136397,essv5022251,essv5147240,essv5005994,essv5117598,essv5141162,essv5125223,essv5097475,essv5134162,essv5055950,essv5034861,essv5039564,essv5075651,essv5014581,essv5107166,essv5156791,essv5035523,essv5031393,essv5016774,essv5092646,essv5083605,essv5008258,essv5086724,essv5134957,essv5108765,essv5005381,essv5128097,essv5082324,essv5131262,essv5027408,essv5056360,essv5133274,essv5017810,essv5136230,essv5026534,essv5114254,essv5091511,essv5031318,essv5105778,essv5099854,essv5023544,essv5058978,essv5144910,essv5140290,essv5015471,essv5023018,essv5004505,essv5112775,essv5027965,essv5137179,essv5093281,essv5004575,essv5055416,essv5015149,essv5158302,essv5038173,essv5102156,essv5127283,essv5153598,essv5139512,essv5110107,essv5081522,essv5146183,essv5094458,essv5057894,essv5002704,essv5043827,essv5044409,essv5146251,essv5084502,essv5077198,essv5110259,essv5051722,essv5045109,essv5044524,essv5019104,essv5032526,essv5129497,essv5021164,essv5102795,essv5036742,essv5049132,essv5146254,essv5066273,essv5145916,essv5123990,essv5156683,essv5060282,essv5023282,essv5009006,essv5008862,essv5086313,essv5113938,essv5118120,essv5122079,essv5011144,essv5063307,essv5025103,essv5090999,essv5155520,essv5099215,essv5131758,essv5006202,essv5105018,essv5029566,essv5148081,essv5047927,essv5019079,essv5014202,essv5103614,essv5152819,essv5075987,essv5076688,essv5017869,essv5018785,essv5030856,essv5153512,essv5129766,essv5085772,essv5089837,essv5025541,essv5096215,essv5004015,essv5096502,essv5040329,essv5068114,essv5088457,essv5109127,essv5079167,essv5147532,essv5131251,essv5144033,essv5117899,essv5137647,essv5005387,essv5141404,essv5143921,essv5116227,essv5049790,essv5115231,essv5145379,essv5117029,essv5008376,essv5022453,essv5010610,essv5090098,essv5100835,essv5137999,essv5134824,essv5111561,essv5041698,essv5076237,essv5059096,essv5158391,essv5062002,essv5045605,essv5158607,essv5079640,essv5149660,essv5066974,essv5122750,essv5155119,essv5062055,essv5021069,essv5080153,essv5106435,essv5068942,essv5104065,essv5005130,essv5108711,essv5147943,essv5109467,essv5139791,essv5090563,essv5150084,essv5023977,essv5112283,essv5119718,essv5108357,essv5108630,essv5081528,essv5021729,essv5077199,essv5006033,essv5059503,essv5119267,essv5025634,essv5121621,essv5072213,essv5151339,essv5101481,essv5004308,essv5158481,essv5143547,essv5038878,essv5156575,essv5141410,essv5030903,essv5103230,essv5151814,essv5033181,essv5136647,essv5044949,essv5002289,essv5119186,essv5082734,essv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M 1184 0 1150 "" 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nsv442510 8 32802640 32807955 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515077 8 32802668 32807332 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627950 S 1414 0 1 "" esv272139 8 32862051 32862169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496750,essv2509886,essv2505202,essv2507159,essv2494023,essv2507321,essv2501305,essv2498902 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18508,NA18853,NA18870,NA18871,NA18912,NA19093,NA19138 esv268532 8 32934219 32934361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513541 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18907 esv1985744 8 33102906 33103328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4898225 S 1 0 1 "" NA18507 nsv396742 8 33103053 33103106 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415320 M 24 "" nsv396773 8 33103184 33103233 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415351 M 24 "" nsv507453 8 33163204 33169204 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623035,nssv617764,nssv620408 M 4 3 0 "" CHM,NA15510,NA18994 esv275524 8 33215252 33218781 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585631 S 1250 0 1 "" nsv507454 8 33215829 33221829 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617765,nssv623037,nssv620409 M 4 3 0 "" CHM,NA15510,NA18994 nsv520975 8 33259628 33264445 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685505,nssv679103,nssv684947 M 2026 0 3 "" esv999929 8 33272601 33282368 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565438 S 3 0 1 "" HuRef esv29016 8 33273912 33284775 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15680 S 451 2 0 "" NA12878,NA19257 esv29250 8 33286569 33287476 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10706 S 451 0 1 "" NA12044 nsv6145 8 33301704 33346328 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8479 S 9 0 1 "" NA12156 nsv890714 8 33311183 33355213 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503382 S 6533 1 0 FUT10 SP52051 nsv465634 8 33326334 33385822 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541406 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FUT10 HGDP00534 nsv6146 8 33482473 33527785 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8480 S 9 0 1 C8orf41,RNF122 NA12156 esv2752251 8 33534036 34002284 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981625,essv6987991,essv6989252,essv6987990,essv6981626 M 771 0 1 DUSP26,RNF122 BEC_307 nsv398229 8 33548778 33552212 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416807 M 24 "" nsv398435 8 33553774 33555448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417013 M 24 "" nsv428197 8 33750827 33941160 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451474,nssv451479,nssv451475,nssv451478,nssv451473,nssv451477,nssv451480 M 62 7 0 "" HGDP00463,HGDP00986,HGDP01093,HGDP01094,NA18498,NA19096,NA19225 nsv824595 8 33776251 33777840 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423547 S 31 0 1 "" NA18999 nsv507455 8 33781784 33787784 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621912,nssv620410,nssv623038 M 4 3 0 "" NA10860,NA15510,NA18994 nsv508502 8 33811004 33920818 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618831,nssv620008 M 4 0 2 "" NA10860,NA15510 nsv507456 8 34130285 34136285 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620411 S 4 1 0 "" NA15510 esv2514029 8 34184252 34185229 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173143 S 1 1 0 "" NA18507 esv267551 8 34184800 34185139 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508028,essv2499416,essv2508337,essv2507730,essv2505024,essv2510716,essv2503025,essv2509872,essv2506084,essv2505366,essv2500996,essv2498389,essv2507181,essv2509321,essv2498933,essv2501796,essv2498151 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA12044,NA12749,NA12751,NA12828,NA18501,NA18507,NA18508,NA18523,NA18853,NA18856,NA18858,NA18870,NA18909,NA19138,NA19239,NA19240 esv274128 8 34184811 34185134 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582040,essv2582550 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv6182 8 34219120 34219211 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28623 S 1 1 0 "" SJK esv7780 8 34219256 34219345 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30221 S 1 1 0 "" SJK esv1331426 8 34219287 34219287 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3697986 S 2 1 0 "" HuRef esv9072 8 34219289 34219384 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31513 S 1 1 0 "" SJK esv1527667 8 34285972 34286040 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742501 S 2 0 1 "" HuRef esv1069455 8 34324100 34324100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022547 S 2 1 0 "" HuRef esv8464 8 34363496 34363588 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30905 S 1 1 0 "" SJK nsv510980 8 34405006 34449914 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618662 S 4 0 0 "" CHM nsv507457 8 34418985 34424985 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620412,nssv621913,nssv623039 M 4 3 0 "" NA10860,NA15510,NA18994 esv997956 8 34420493 34421067 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565024 S 3 1 0 "" HuRef nsv6147 8 34433571 34478666 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5073 S 9 0 1 "" NA19129 esv2598340 8 34435601 34437115 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266509 S 1 0 1 "" NA18507 nsv507458 8 34490866 34496866 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621914 S 4 1 0 "" NA10860 esv1772896 8 34505995 34506247 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645282 S 2 0 1 "" HuRef esv2153880 8 34545549 34545984 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737252 S 1 0 1 "" NA18507 nsv396306 8 34545731 34545794 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414884 M 24 "" esv274251 8 34577445 34577801 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579941,essv2580638,essv2579099 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239 esv267401 8 34577457 34577789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575796,essv2531988,essv2554285,essv2544412,essv2520636,essv2547453,essv2578083,essv2576363,essv2546911,essv2540074,essv2520932,essv2557311,essv2557255,essv2532117,essv2569393,essv2558838,essv2542008,essv2543681,essv2562354,essv2529628,essv2575766,essv2575074,essv2538504,essv2526578,essv2560617,essv2560939,essv2530447,essv2568451,essv2560466,essv2571414,essv2546063,essv2551552,essv2548770 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11830,NA12006,NA12287,NA12414,NA12716,NA12717,NA12761,NA12814,NA12892,NA18489,NA18498,NA18499,NA18501,NA18505,NA18508,NA18516,NA18856,NA18870,NA18909,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19141,NA19147,NA19190,NA19238,NA19239,NA19257 esv273306 8 34589172 34589472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581687,essv2582650,essv2584687 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19239 esv270055 8 34589176 34589498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521167,essv2523262,essv2577204,essv2521823,essv2520565,essv2530877,essv2537377,essv2528468,essv2562750,essv2569313,essv2578721,essv2550216,essv2537102,essv2538904,essv2569827,essv2527230,essv2544878,essv2553070,essv2524331,essv2565046,essv2566215,essv2541720,essv2568899,essv2543413,essv2556159,essv2527966,essv2534142,essv2572941,essv2555316,essv2556084,essv2573509,essv2571845,essv2526900,essv2529624,essv2575296,essv2524121,essv2574817,essv2560319,essv2549741 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12004,NA12043,NA12144,NA12716,NA12873,NA12878,NA12891,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18526,NA18542,NA18555,NA18558,NA18572,NA18592,NA18861,NA18870,NA18871,NA18907,NA18916,NA18942,NA18943,NA18956,NA18964,NA18973,NA19005,NA19093,NA19102,NA19129,NA19138,NA19190,NA19225 nsv831283 8 34620785 34782176 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447018 S 95 1 0 "" nsv525800 8 34687557 34734996 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701982 S 2026 1 0 "" nsv890715 8 34687557 34820072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513948 S 6533 0 1 "" SP55878 esv2384164 8 34749507 34749952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695969 S 1 0 1 "" NA18507 esv1625972 8 34749729 34749792 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621314 S 2 0 1 "" HuRef nsv517906 8 34780638 34789074 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695318 S 2026 1 0 "" nsv6148 8 34789186 34833638 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4612 S 9 0 1 "" NA19129 esv990287 8 34802619 34802709 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575564 S 3 0 1 "" HuRef nsv890716 8 34826978 34942339 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550421 S 6533 1 0 "" MS18431 nsv6149 8 34905751 34927810 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10615 S 9 1 0 "" NA18956 nsv517950 8 34916945 34923482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695362 S 2026 0 1 "" esv2439408 8 34965497 34966925 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202304 S 1 0 1 "" NA18507 esv272179 8 35042552 35042826 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580141,essv2580399 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv2089041 8 35066752 35067191 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563694 S 1 0 1 "" NA18507 nsv831284 8 35137961 35312626 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447019 S 95 1 0 UNC5D nsv507459 8 35146611 35152611 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620413,nssv623040 M 4 2 0 "" NA15510,NA18994 esv25570 8 35175540 35178879 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11941 S 451 0 1 "" NA19257 esv271916 8 35188547 35188875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575879,essv2526205,essv2542469,essv2571001,essv2556494,essv2545561,essv2577631,essv2570700,essv2548481,essv2576589,essv2525270,essv2550502,essv2554188,essv2544225,essv2552198,essv2520501,essv2547557,essv2529394,essv2564669,essv2577999,essv2565507,essv2576359,essv2520243,essv2537478,essv2546879,essv2540104,essv2520751,essv2557478,essv2552735,essv2532421,essv2578745,essv2558754,essv2537022,essv2527244,essv2561722,essv2544665,essv2562882,essv2523853,essv2553103,essv2541191,essv2538297,essv2542676,essv2540368,essv2524412,essv2564836,essv2534645,essv2561080,essv2539550,essv2549159,essv2519901,essv2521945,essv2566271,essv2530905,essv2567667,essv2528710,essv2567366,essv2541855,essv2570291,essv2563729,essv2553320,essv2572476,essv2559246,essv2566968,essv2542073,essv2569155,essv2543693,essv2562190,essv2539354,essv2533995,essv2578335,essv2555205,essv2533765,essv2555756,essv2567243,essv2566640,essv2529922,essv2527622,essv2555899,essv2522391,essv2531335,essv2573375,essv2576944,essv2572137,essv2525737,essv2526834,essv2538560,essv2526555,essv2574859,essv2568755,essv2545133,essv2560459,essv2549944,essv2571229,essv2545967,essv2574357,essv2551496,essv2536242,essv2537972,essv2549000,essv2533106,essv2547966,essv2524840,essv2558155 M 157 103 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10851,NA11830,NA11918,NA11919,NA11993,NA11994,NA12003,NA12043,NA12044,NA12045,NA12154,NA12156,NA12234,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12812,NA12814,NA12815,NA12878,NA12892,NA18489,NA18498,NA18499,NA18502,NA18505,NA18510,NA18516,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18909,NA18912,NA18916,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18960,NA18961,NA18964,NA18970,NA18973,NA18980,NA19005,NA19108,NA19114,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv273205 8 35188547 35188875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584830,essv2583422 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv520421 8 35275059 35599010 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671338,nssv689820 M 2026 2 0 UNC5D nsv396482 8 35282685 35282843 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415060 M 24 UNC5D nsv6150 8 35295436 35323852 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5074 S 9 1 0 UNC5D NA19129 nsv890717 8 35303903 35434730 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565256,nssv1585552,nssv1565875 M 6533 0 3 UNC5D IS30372,IS30532,IS37523 esv28759 8 35314955 35321038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14971 S 451 0 1 UNC5D NA19225 esv2530621 8 35341493 35342751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292947 S 1 0 1 UNC5D NA18507 esv2632134 8 35486081 35486811 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322612 S 1 1 0 UNC5D NA18507 esv275263 8 35515677 35520921 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585319 S 1250 0 1 UNC5D esv24068 8 35552019 35553220 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17338 S 451 0 1 UNC5D NA12287 nsv831285 8 35605416 35767659 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447021,nssv1447020 M 95 0 2 UNC5D nsv6151 8 35632820 35645402 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8481 S 9 0 1 UNC5D NA12156 nsv6152 8 35655375 35688891 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5075 S 9 1 0 UNC5D NA19129 esv2483846 8 35687574 35688907 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330510 S 1 0 1 UNC5D NA18507 esv1962769 8 35687789 35688315 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756684 S 1 0 1 UNC5D NA18507 esv2532641 8 35687994 35688172 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366680 S 1 0 1 UNC5D NA18507 nsv820115 8 35770844 35771113 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419581 S 2 1 0 UNC5D AK1 esv27500 8 35785971 35799969 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13422 S 451 1 0 "" NA19257 nsv831286 8 35921930 36070128 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447022 S 95 0 1 "" nsv890718 8 36068009 36343688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550422 S 6533 1 0 "" MS18431 nsv819958 8 36193282 36199569 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419763 S 2 0 1 "" AK1 esv2422113 8 36194697 36197883 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5011593,essv5152413,essv5004203,essv5029878,essv5049879,essv5082145,essv5140874,essv5023045,essv5043779,essv5132469,essv5127573,essv5055125,essv5053376,essv5104148,essv5139196,essv5093157,essv5096910,essv5148442,essv5035376,essv5156790 M 1184 0 20 "" NA07022,NA10836,NA11920,NA12829,NA17975,NA17982,NA18158,NA18559,NA18562,NA18603,NA18609,NA18748,NA18945,NA18952,NA18954,NA18963,NA18973,NA19682,NA19770,NA20873 nsv442104 8 36194697 36197883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv824596 8 36195020 36198161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425889 S 31 0 1 "" AK4 nsv824597 8 36195020 36199539 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438948,nssv1422721 M 31 0 2 "" NA18552,NA18973 nsv515078 8 36195220 36197900 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627951 S 1414 0 0 "" esv272493 8 36264202 36264526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581453 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv6153 8 36310472 36355107 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5076 S 9 0 1 "" NA19129 esv1097208 8 36384879 36384879 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172624 S 2 1 0 "" HuRef esv28105 8 36392979 36398258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19362 S 451 0 1 "" NA12044 nsv520391 8 36450669 36503989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697387 S 2026 0 1 "" esv26754 8 36489165 36491025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19177,esv13186 M 451 0 9 "" NA18505,NA18508,NA18517,NA18907,NA18916,NA19114,NA19190,NA19240,NA19257 nsv6155 8 36526804 36571899 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5077 S 9 0 1 "" NA19129 nsv831287 8 36549946 36724532 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447023 S 95 1 0 "" esv2752252 8 36638511 36740746 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989517,essv6981789 M 771 0 1 "" BEC_468 nsv831288 8 36772939 36927928 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447024 S 95 1 0 KCNU1 esv992767 8 36851739 36855303 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564012 S 3 1 0 KCNU1 HuRef esv2626490 8 36915193 36916602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250152 S 1 0 1 "" NA18507 esv2101811 8 36915437 36915877 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891237 S 1 0 1 "" NA18507 nsv6156 8 36978364 37023188 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8482 S 9 0 1 "" NA12156 nsv6157 8 37102716 37138450 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8483 S 9 0 1 "" NA12156 nsv6158 8 37111077 37141805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1731 S 9 1 0 "" NA18555 nsv831289 8 37153187 37307820 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447025 S 95 1 0 "" esv271170 8 37156444 37156615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504054,essv2509854,essv2513397,essv2499130,essv2495828 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA18505,NA18508,NA18907,NA19114 nsv437614 8 37157791 37167392 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467495 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19202 esv2541266 8 37169778 37172050 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193694 S 1 0 1 "" NA18507 esv2206429 8 37169853 37171199 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854239 S 1 0 1 "" NA18507 nsv512038 8 37169872 37171153 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624587 S 1 0 1 "" 1 esv4253 8 37169993 37171095 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26694 S 1 0 1 Single Asian sample YH "" YH esv1003223 8 37170038 37171011 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583237 S 3 0 1 "" HuRef esv1320817 8 37170043 37171017 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872852 S 2 0 1 "" HuRef esv9084 8 37170044 37171011 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31525 S 1 0 1 "" SJK nsv831290 8 37193795 37395020 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447026 S 95 1 0 "" nsv6159 8 37240663 37286146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6214 S 9 0 1 "" NA12156 esv1353666 8 37294051 37294051 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3812418 S 2 1 0 "" HuRef nsv824599 8 37318266 37319755 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425102 S 31 0 1 "" AK2 nsv831291 8 37399409 37535863 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447027 S 95 1 0 "" nsv831293 8 37418779 37607801 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447029 S 95 1 0 "" esv275450 8 37427930 37431807 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585707,essv2585674 M 1250 1 1 "" nsv522883 8 37458281 37463440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698539 S 2026 0 1 "" nsv522913 8 37463664 37472939 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698573 S 2026 0 1 "" nsv831294 8 37481144 37696334 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447030 S 95 1 0 ZNF703 nsv512949 8 37483001 37483192 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625601 S 1 1 0 "" 1 nsv6160 8 37483934 37518440 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5078 S 9 0 1 "" NA19129 nsv499548 8 37509044 37514762 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586076 S 9 0 1 "" nsv436594 8 37509098 37514976 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466451 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2421354 8 37509143 37514234 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5024367,essv5146580,essv5006608,essv5155013,essv5112260,essv5041346,essv5105575,essv5056974,essv5008927,essv5159506,essv5023117,essv5087008,essv5125908,essv5022401,essv5105595,essv5012791,essv5015354,essv5056084,essv5120213,essv5027274,essv5075423,essv5106439,essv5108212,essv5102243,essv5040095,essv5158977,essv5118625,essv5072661,essv5058854,essv5034853,essv5003904,essv5145471,essv5089985,essv5116808,essv5148433,essv5126262,essv5085991 M 1184 0 37 "" NA12843,NA18486,NA18499,NA18505,NA18510,NA18923,NA19038,NA19102,NA19128,NA19129,NA19138,NA19152,NA19154,NA19179,NA19180,NA19181,NA19183,NA19201,NA19257,NA19307,NA19350,NA19375,NA19383,NA19390,NA19403,NA19434,NA19436,NA19443,NA19445,NA19469,NA19908,NA19916,NA20300,NA20341,NA21608,NA21611,NA21615 nsv442106 8 37509143 37514234 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv29619 8 37509300 37514602 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17760 S 451 0 3 "" NA18505,NA19129,NA19257 nsv515079 8 37509480 37514676 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627952 S 1414 0 0 "" esv29836 8 37524021 37596439 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17308 S 451 1 0 "" NA11931 nsv512950 8 37621690 37622105 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625602 S 1 1 0 "" 1 esv1550238 8 37622089 37622089 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257959 S 2 1 0 "" HuRef nsv509261 8 37743827 37858110 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620906 S 4 1 0 BRF2,GPR124,PROSC,RAB11FIP1 NA15510 nsv528524 8 37765824 37816032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705134 S 2026 0 1 GPR124 nsv528598 8 37780229 37836279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705224 S 2026 0 1 BRF2,GPR124,RAB11FIP1 nsv397948 8 37783219 37787844 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416526 M 24 GPR124 nsv6161 8 37881844 37908396 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5079 S 9 1 0 "" NA19129 nsv890719 8 37942088 37951056 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509913 S 6533 0 1 ADRB3 SP54956 nsv824600 8 38036329 38037200 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436781 S 31 1 0 EIF4EBP1 NA18542 esv1627372 8 38051685 38051685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325862 S 2 1 0 "" HuRef nsv824601 8 38054329 38057182 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421844,nssv1425103 M 31 0 2 "" AK2,NA18997 nsv397579 8 38152357 38157197 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416157 M 24 BAG4,LSM1 nsv438049 8 38227290 38229372 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469823,nssv469822 M 269 0 2 Samples from several populations that are part of the HapMap project. DDHD2 NA10856,NA11882 nsv528419 8 38344506 38351031 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705011 S 2026 0 1 WHSC1L1 esv1006743 8 38357503 38358179 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586976 S 3 0 1 WHSC1L1 HuRef nsv824602 8 38357503 38358179 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434019 S 31 0 1 WHSC1L1 NA18592 nsv831295 8 38463691 38632874 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447033,nssv1447032,nssv1447031,nssv1447034 M 95 1 3 C8orf86,RNF5P1 esv6024 8 38488309 38490026 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28465 S 1 0 1 C8orf86 SJK esv1005442 8 38501783 38501783 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572030 S 3 1 0 C8orf86 HuRef nsv397414 8 38501785 38501785 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415992 M 24 C8orf86 esv1028558 8 38501799 38501799 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347321 S 2 1 0 C8orf86 HuRef esv1219224 8 38502565 38502640 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338149 S 2 0 1 C8orf86 HuRef esv21581 8 38566236 38567532 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15323,esv18017 M 451 2 0 "" NA07037,NA12287 nsv831296 8 38640387 38776969 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447035 S 95 1 0 TACC1 esv25816 8 38696313 38707037 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19594 S 451 0 1 TACC1 NA12749 nsv396891 8 38730581 38730581 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415469 M 24 TACC1 nsv528721 8 38815153 38828710 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705375 S 2026 0 1 TACC1 esv1224133 8 38856314 38856314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800544 S 2 1 0 "" HuRef esv1727186 8 38856444 38856520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966801 S 2 0 1 "" HuRef nsv819132 8 38865170 38870884 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419730 S 2 0 1 "" AK1 nsv465637 8 38873687 38917306 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541407 S 1557 0 1 PLEKHA2 NINDS_98 nsv522550 8 38901784 38918214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705931 S 2026 0 1 PLEKHA2 nsv516960 8 38912839 38918214 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689906,nssv657246,nssv662094,nssv660003,nssv672361,nssv672253,nssv656108,nssv686078,nssv684811,nssv663388,nssv674666,nssv661854,nssv673838,nssv693452,nssv659345,nssv653514,nssv688693,nssv682146,nssv690667,nssv667632,nssv679241,nssv663748,nssv688626,nssv670871,nssv656852,nssv667332 M 2026 0 26 PLEKHA2 nsv820251 8 38967897 38972183 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419623 S 2 0 1 TM2D2 AK1 nsv515080 8 38973352 38973748 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627071 S 1414 0 0 ADAM9 esv270261 8 38983200 38983530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565771,essv2575936,essv2541014,essv2526307,essv2542358,essv2536443,essv2543986,essv2571009,essv2568237,essv2531817,essv2570676,essv2548192,essv2521550,essv2576847,essv2550675,essv2525494,essv2550418,essv2554017,essv2520399,essv2547293,essv2529378,essv2558674,essv2564768,essv2578082,essv2553820,essv2559641,essv2565446,essv2576225,essv2564039,essv2561862,essv2537554,essv2528601,essv2540013,essv2556836,essv2562611,essv2569254,essv2550170,essv2558899,essv2537020,essv2539133,essv2569793,essv2544688,essv2563092,essv2523659,essv2541443,essv2538335,essv2542715,essv2540335,essv2524757,essv2564924,essv2561158,essv2539762,essv2549489,essv2519660,essv2560091,essv2522239,essv2566290,essv2531059,essv2567730,essv2528666,essv2567502,essv2570248,essv2563799,essv2553379,essv2535670,essv2572518,essv2559119,essv2578330,essv2573129,essv2555272,essv2533459,essv2566361,essv2530095,essv2574045,essv2527421,essv2557593,essv2555844,essv2534425,essv2531638,essv2573514,essv2525575,essv2529436,essv2575755,essv2526607,essv2523971,essv2572874,essv2568800,essv2549710,essv2571125,essv2574440,essv2551481,essv2535913,essv2537740,essv2548710,essv2533004,essv2554765,essv2547789 M 157 97 0 Samples from several populations that are part of the HapMap project. ADAM9 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA11829,NA11830,NA11831,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12006,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12287,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12874,NA12878,NA12891,NA18489,NA18501,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18526,NA18532,NA18537,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18940,NA18942,NA18943,NA18944,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18964,NA18980,NA19093,NA19099,NA19114,NA19129,NA19143,NA19147,NA19225,NA19238,NA19240,NA19257 esv272925 8 38983200 38983530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581857,essv2582684 M 7 2 0 Samples from several populations that are part of the HapMap project. ADAM9 NA12878,NA12891 esv1147428 8 39021751 39021751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667724 S 2 1 0 ADAM9 HuRef esv9208 8 39022080 39022145 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31649 S 1 1 0 ADAM9 SJK nsv524818 8 39031963 39038564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700812 S 2026 0 1 ADAM9 esv2795 8 39072707 39073101 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25236 S 1 0 1 Single Asian sample YH ADAM9 YH nsv6162 8 39078465 39111039 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5080 S 9 1 0 ADAM32,ADAM9 NA19129 esv2158875 8 39127410 39127810 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670864 S 1 0 1 ADAM32 NA18507 esv1142468 8 39127612 39127710 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3986741 S 2 0 1 ADAM32 HuRef nsv397485 8 39127613 39127710 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416063 M 24 ADAM32 nsv507460 8 39188097 39194097 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617766,nssv620414 M 4 2 0 ADAM32 CHM,NA15510 nsv428198 8 39188466 39524881 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451508,nssv451490,nssv451494,nssv451484,nssv451493,nssv451497,nssv451485,nssv451488,nssv451496,nssv451506,nssv451486,nssv451481,nssv451505,nssv451495,nssv451499,nssv451501,nssv451492,nssv451502,nssv451503,nssv451500,nssv451507,nssv451483,nssv451504,nssv451489,nssv451482,nssv451491 M 62 26 0 ADAM32,ADAM3A,ADAM5P HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01087,HGDP01088,HGDP01089,HGDP01093,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19189,NA19257 nsv824603 8 39250513 39251104 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432181 S 31 1 0 ADAM32 AK20 esv268863 8 39288441 39288562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500380,essv2497339,essv2511115,essv2497937,essv2512337,essv2500485 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18545,NA18944,NA18945,NA18949,NA18956 dgv2227e1 8 39293436 39577556 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21565,essv2394,essv20830,essv20869,essv6848,essv19060,essv16606,essv18034,essv3314,essv3920,essv12884 M 271 0 0 ADAM18,ADAM3A,ADAM5P NA06993,NA10855,NA11830,NA12145,NA12146,NA18502,NA18558,NA18948,NA18960,NA18976,NA19208 dgv2228e1 8 39295787 39440685 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18822,essv1061,essv25136,essv24204,essv1557,essv3942,essv20834,essv11612,essv20511,essv18780,essv7630,essv21919,essv25055,essv6554,essv5621,essv24118,essv11366,essv11406,essv23701,essv23760,essv2735,essv23149,essv5069 M 271 0 0 ADAM3A,ADAM5P NA07048,NA10831,NA10856,NA11829,NA11994,NA12057,NA12144,NA12248,NA12716,NA12740,NA12801,NA12891,NA18547,NA18570,NA18593,NA18624,NA18858,NA18965,NA18970,NA18975,NA18997,NA19192,NA19207 dgv2229e1 8 39326152 39548228 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23318,essv5985,essv21368,essv5686,essv19486,essv16587,essv19324,essv15902,essv7952,essv520 M 271 0 0 ADAM3A,ADAM5P NA10860,NA12264,NA12750,NA12872,NA18552,NA18605,NA18860,NA18952,NA19203,NA19205 dgv7765n71 8 39331592 39518214 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890733,nsv890721,nsv890751,nsv890754,nsv890756,nsv890728,nsv890785,nsv890782,nsv890784,nsv890796,nsv890795,nsv890803 M 6533 117 1266 ADAM3A,ADAM5P IS30035,IS30054,IS30067,IS30070,IS30080,IS30097,IS30109,IS30111,IS30134,IS30143,IS30177,IS30179,IS30196,IS30197,IS30222,IS30238,IS30255,IS30278,IS30294,IS30316,IS30322,IS30330,IS30348,IS30365,IS30372,IS30384,IS30388,IS30398,IS30409,IS30423,IS30434,IS30466,IS30479,IS30490,IS30506,IS30542,IS30564,IS30567,IS30590,IS30593,IS30597,IS30683,IS30720,IS30814,IS30838,IS30883,IS30884,IS30899,IS30934,IS30953,IS30976,IS31044,IS31046,IS31054,IS31063,IS31067,IS31090,IS31098,IS31117,IS31118,IS31123,IS31142,IS31154,IS31171,IS31189,IS31227,IS31228,IS31233,IS31251,IS31285,IS31294,IS31300,IS31306,IS31323,IS31369,IS31373,IS31390,IS31396,IS31401,IS31445,IS31553,IS31554,IS31587,IS31617,IS31634,IS31649,IS31652,IS31703,IS31729,IS31765,IS31768,IS31778,IS31800,IS31804,IS31816,IS31825,IS31849,IS31861,IS31875,IS31920,IS31980,IS32006,IS32289,IS32306,IS32312,IS32329,IS32361,IS32517,IS32607,IS32644,IS32704,IS32737,IS32763,IS32787,IS32800,IS32819,IS32828,IS32843,IS32998,IS33027,IS33040,IS33087,IS33136,IS33162,IS33175,IS33261,IS33262,IS33263,IS33304,IS33332,IS33351,IS33372,IS33403,IS33439,IS33460,IS33472,IS33487,IS33494,IS33507,IS33522,IS33529,IS33531,IS33559,IS33576,IS33600,IS33605,IS33622,IS33651,IS33663,IS33665,IS33676,IS33711,IS33719,IS33721,IS33726,IS33760,IS33771,IS33774,IS33776,IS33788,IS33796,IS33797,IS33800,IS33811,IS33837,IS33846,IS33852,IS33871,IS33890,IS33894,IS33935,IS33948,IS34011,IS34020,IS34025,IS34051,IS34055,IS34124,IS34141,IS34185,IS34257,IS34264,IS34271,IS34340,IS34356,IS34378,IS34383,IS34395,IS34407,IS34422,IS34443,IS34458,IS34468,IS34482,IS34484,IS34489,IS34491,IS34518,IS34526,IS34531,IS34562,IS34599,IS34610,IS34622,IS34632,IS34645,IS34698,IS34700,IS34749,IS34756,IS34797,IS34805,IS34811,IS34825,IS34856,IS34895,IS34912,IS34954,IS34981,IS34996,IS35007,IS35014,IS35018,IS35025,IS35083,IS35088,IS35099,IS35107,IS35129,IS35145,IS35165,IS35167,IS35195,IS35196,IS35210,IS35219,IS35225,IS35229,IS35261,IS35270,IS35280,IS35294,IS35312,IS35319,IS35347,IS35372,IS35385,IS35422,IS35428,IS35450,IS35471,IS35486,IS35487,IS35498,IS35506,IS35509,IS35519,IS35536,IS35549,IS35565,IS35566,IS35573,IS35581,IS35582,IS35605,IS35637,IS35675,IS35691,IS35717,IS35726,IS35765,IS35768,IS35771,IS35776,IS35783,IS35802,IS35867,IS35877,IS35880,IS35903,IS35954,IS35974,IS36022,IS36051,IS36064,IS36065,IS36103,IS36117,IS36179,IS36183,IS36219,IS36248,IS36273,IS36287,IS36298,IS36315,IS36320,IS36383,IS36400,IS36412,IS36450,IS36458,IS36533,IS36559,IS36570,IS36581,IS36667,IS36722,IS36787,IS36820,IS36887,IS36893,IS36910,IS36911,IS36936,IS36963,IS36973,IS36990,IS37214,IS37226,IS37238,IS37294,IS37329,IS37337,IS37348,IS37452,IS37471,IS37498,IS37520,IS37523,IS37550,IS37573,IS37577,IS37651,IS37664,IS37684,IS37689,IS37730,IS37743,IS37789,IS37841,IS37848,IS37915,IS37963,IS37974,IS37975,IS37976,IS37986,IS37995,IS38009,IS38012,IS38050,IS38056,IS38058,IS38060,IS38065,IS38069,IS38078,IS38099,IS38101,IS38108,IS38123,IS38129,IS38161,IS38168,IS38184,IS38186,IS38193,IS38228,IS38231,IS38240,IS38241,IS38251,IS38252,IS38262,IS38263,IS38265,IS38267,IS38333,IS38335,IS38342,IS38346,IS38348,IS38378,IS38380,IS38384,IS38386,IS38390,IS38397,IS38411,IS38421,IS38429,IS38430,IS38431,IS38441,IS38457,IS38461,IS38465,IS38472,IS38475,IS38486,IS38492,IS38496,IS38507,IS38525,IS38549,IS38575,IS38599,IS38601,IS38604,IS38612,IS38616,IS38620,IS38634,IS38650,IS38743,IS38840,IS38846,IS38979,IS38993,IS39000,IS39100,IS39243,IS39254,IS39316,IS39321,IS39343,IS39356,IS39365,IS39369,IS39373,IS39386,IS39394,IS39417,IS39418,IS39428,IS39438,IS39453,IS39457,IS39493,IS39494,IS39499,IS39509,IS39521,IS39530,IS39637,IS39642,IS39646,IS39666,IS39676,IS39678,IS39718,IS39721,IS39722,IS39750,IS39759,IS39784,IS39788,IS39881,IS39900,IS39996,IS40003,IS40004,IS40027,IS40033,IS40039,IS40047,IS40055,IS40062,IS40073,IS40086,IS40135,IS40149,IS40157,IS40186,IS40188,IS40219,IS40222,IS40224,IS40227,IS40230,IS40245,IS40264,IS40310,IS40318,IS40326,IS40342,IS40347,IS40368,IS40374,IS40382,IS40396,IS40415,IS40416,IS40473,IS40491,IS40492,IS40494,IS40511,IS40520,IS40538,IS40552,IS40558,IS40571,IS40573,IS40582,IS40653,IS40657,IS40662,IS40677,IS40678,IS40728,IS40729,IS40734,IS40757,IS40775,IS40795,IS40799,IS40801,IS40815,IS40831,IS40847,IS40849,IS40907,IS40920,IS40942,IS40943,IS40950,IS40955,IS40990,IS41025,IS41043,IS41045,IS41054,IS41061,IS41066,IS41068,IS41180,IS41195,IS41263,IS41273,IS41292,IS41296,IS41308,IS41317,IS41433,IS41448,IS41452,IS41525,IS41549,IS41562,IS41648,IS41657,IS41664,IS41729,IS41730,IS41739,IS41768,IS41786,IS41795,IS41803,IS41832,IS41839,IS41840,IS41848,IS41858,IS41860,IS41862,IS41863,IS41869,IS41889,IS41894,IS41913,IS41922,IS41948,IS41955,IS41968,IS41971,IS41973,IS41979,IS41983,IS41984,IS41992,MS10106,MS10115,MS10141,MS10164,MS10166,MS10169,MS10203,MS10228,MS10249,MS10282,MS10283,MS10381,MS10443,MS10444,MS10499,MS10548,MS10549,MS10575,MS10590,MS10593,MS10615,MS10686,MS10695,MS10699,MS10709,MS10722,MS10727,MS10778,MS10784,MS10802,MS10807,MS10872,MS10896,MS10897,MS10937,MS10942,MS10946,MS10950,MS11004,MS11015,MS11057,MS11078,MS11080,MS11119,MS11137,MS11159,MS11171,MS11181,MS11218,MS11237,MS11241,MS11257,MS11284,MS11338,MS11431,MS11451,MS11454,MS11467,MS11494,MS11497,MS11522,MS11537,MS11550,MS11558,MS11565,MS11635,MS11652,MS11666,MS11669,MS11693,MS11726,MS11738,MS12003,MS12017,MS12033,MS12039,MS12045,MS12109,MS12170,MS12188,MS12191,MS12202,MS12211,MS12217,MS12234,MS12266,MS12366,MS12387,MS12466,MS12520,MS12555,MS12614,MS12644,MS12657,MS12684,MS12685,MS12718,MS12731,MS12751,MS12791,MS12812,MS12861,MS12876,MS12938,MS12991,MS13154,MS13162,MS13169,MS13179,MS13205,MS13206,MS13211,MS13319,MS13330,MS13336,MS13362,MS13373,MS13379,MS13390,MS13426,MS13428,MS13444,MS13451,MS13491,MS13498,MS13512,MS13553,MS13641,MS13712,MS13721,MS13744,MS13813,MS13866,MS14010,MS14068,MS14110,MS14164,MS14250,MS14305,MS14313,MS14316,MS14318,MS14330,MS14334,MS14339,MS14345,MS14353,MS14359,MS14374,MS14384,MS14396,MS14421,MS14433,MS14512,MS14516,MS14562,MS14591,MS14617,MS14639,MS14652,MS14658,MS14665,MS14717,MS14724,MS14737,MS14761,MS14809,MS14818,MS14824,MS14828,MS14842,MS14872,MS14907,MS14919,MS14961,MS14978,MS15030,MS15036,MS15048,MS15060,MS15065,MS15078,MS15175,MS15188,MS15199,MS15206,MS15312,MS15337,MS15382,MS15383,MS15389,MS15402,MS15428,MS15429,MS15554,MS15596,MS15610,MS15628,MS15630,MS15707,MS15715,MS15748,MS15749,MS15765,MS15767,MS15777,MS15779,MS15834,MS15835,MS15841,MS15877,MS15906,MS15907,MS15915,MS15921,MS15922,MS15984,MS15991,MS15997,MS16039,MS16048,MS16055,MS16078,MS16095,MS16126,MS16137,MS16152,MS16158,MS16160,MS16192,MS16206,MS16213,MS16248,MS16283,MS16314,MS16323,MS16345,MS16347,MS16352,MS16368,MS16373,MS16398,MS16399,MS16411,MS16455,MS16588,MS16643,MS16677,MS16693,MS16722,MS16724,MS16797,MS16808,MS16837,MS16846,MS16921,MS16940,MS16947,MS16986,MS17043,MS17097,MS17106,MS17158,MS17203,MS17204,MS17224,MS17235,MS17316,MS17359,MS17375,MS17380,MS17389,MS17527,MS17537,MS17554,MS17562,MS17563,MS17618,MS17624,MS17677,MS17680,MS17703,MS17705,MS17730,MS17808,MS17830,MS17852,MS17869,MS17902,MS17909,MS17949,MS17958,MS17970,MS18108,MS18124,MS18192,MS18240,MS18247,MS18251,MS18252,MS18255,MS18307,MS18311,MS18325,MS18365,MS18392,MS18466,MS18480,MS18667,MS18672,MS18677,MS18788,MS18821,MS18837,MS18843,MS18847,MS18873,MS18876,MS18902,MS18922,MS18933,MS18947,MS18956,MS18979,MS18993,MS18999,MS19008,MS19011,MS19023,MS19068,MS19119,MS19140,MS19159,MS19161,MS19184,MS19276,MS19301,MS19360,MS19365,MS19438,MS19454,MS19460,MS19466,MS19483,MS19487,MS19529,MS19533,MS19571,MS19576,MS19599,MS19677,MS19703,MS19705,MS19746,MS19766,MS19843,MS19858,MS19955,MS20020,MS20047,MS20073,MS20152,MS20170,MS20196,MS20247,MS20288,MS20334,MS20406,MS20520,MS20546,MS20550,MS20563,MS20612,MS20670,MS20708,MS20710,MS20741,MS20784,MS20813,MS20843,MS20957,MS20967,MS21020,MS21088,MS21100,MS21118,MS21130,MS21162,MS21201,MS21244,MS21275,MS21290,MS21314,MS21343,MS21428,MS21457,MS21458,MS21536,MS21732,MS21776,MS21814,MS21857,MS21863,MS21866,MS21986,MS22000,MS22013,MS22122,MS22179,MS22209,MS22227,MS22251,MS22262,MS22268,MS22273,MS22321,MS22343,MS22351,MS22465,MS22505,MS22590,MS22644,MS22707,MS22807,MS22863,MS22928,MS22970,MS22999,MS23109,MS23123,MS23143,MS23152,MS23163,MS23210,MS23212,MS23257,MS23301,MS23460,MS23486,MS23487,MS23495,MS23587,MS23602,MS23669,MS23724,MS23767,MS23791,MS23957,MS23977,MS24000,MS24011,MS24045,MS24046,MS24056,MS24083,MS24103,MS24108,MS24121,MS24139,MS24151,MS24187,MS24193,MS24207,MS24212,MS24223,MS24239,MS24244,MS24275,MS24330,MS24357,MS24393,MS24419,MS24423,MS24437,MS24439,MS24444,MS24476,MS24517,MS24533,MS24587,MS24600,MS24623,MS24651,MS24692,MS24714,MS24783,MS24792,MS24805,MS24808,MS24837,MS24867,MS24877,MS24919,MS24931,MS24971,MS24987,MS24995,MS25039,MS25121,MS25181,MS25190,MS25193,MS25197,MS25216,MS25223,MS25285,MS25306,MS25308,MS25369,MS25406,MS25436,MS25471,MS25475,MS25484,MS25519,MS25589,MS25683,MS25690,MS25730,MS25747,MS25751,MS25805,MS25842,MS25864,MS25884,MS25891,MS25901,MS25941,MS25950,MS25980,MS26069,MS26110,MS26123,MS26137,MS26140,MS26145,SP50076,SP50086,SP50153,SP50170,SP50522,SP50548,SP50592,SP50597,SP50608,SP50622,SP50623,SP50627,SP50634,SP50646,SP50661,SP50683,SP50692,SP50700,SP50708,SP50742,SP50746,SP50756,SP50772,SP50809,SP50831,SP50834,SP51087,SP51112,SP51146,SP51172,SP51179,SP51197,SP51203,SP51219,SP51231,SP51241,SP51242,SP51250,SP51264,SP51280,SP51290,SP51296,SP51314,SP51332,SP51355,SP51389,SP51403,SP52202,SP52224,SP52243,SP52263,SP52271,SP52297,SP52332,SP52350,SP52364,SP52369,SP52379,SP52381,SP52386,SP52393,SP52400,SP52448,SP52523,SP52537,SP52574,SP52587,SP52593,SP52621,SP52655,SP52694,SP52734,SP52751,SP52759,SP52829,SP52863,SP52872,SP52889,SP52902,SP52921,SP52933,SP52982,SP52986,SP53051,SP53068,SP53131,SP53147,SP53221,SP53240,SP53280,SP53323,SP53329,SP53399,SP53401,SP53426,SP53449,SP53493,SP53515,SP53569,SP53625,SP53700,SP53709,SP53728,SP53745,SP53776,SP53803,SP53947,SP53994,SP54007,SP54026,SP54092,SP54110,SP54138,SP54190,SP54191,SP54214,SP54216,SP54217,SP54220,SP54236,SP54249,SP54268,SP54275,SP54284,SP54286,SP54295,SP54312,SP54812,SP54862,SP54891,SP54913,SP54921,SP54936,SP54957,SP54958,SP54975,SP54976,SP54999,SP55003,SP55032,SP55061,SP55084,SP55152,SP55165,SP55167,SP55179,SP55189,SP55348,SP55349,SP55360,SP55386,SP55463,SP55489,SP55513,SP55526,SP56342,SP56395,SP56400,SP56418,SP56426,SP56448,SP56513,SP56631,SP56663,SP56689,SP56701,SP56708,SP56731,SP56748,SP56762,SP56777,SP56787,SP56802,SP56845,SP56949,SP56986,SP56995,SP57008,SP57044,SP57061,SP57062,SP57138,SP57140,SP57165,SP57534,SP57536,SP57585,SP57600,SP57610,SP57665,SP57673,SP57689,SP57723,SP57736,SP57852,SP57891,SP57950,SP57965,SP58026,SP58132,SP58166,SP58208,SP58259,SP58408,SP58433,SP58443,SP58480,SP58505,SP58553,SP80916,SP80931,SP80943,SP80968,SP80980,SP81019,SP81060,SP81061,SP81080,SP81092,SP81107,SP81109,SP81114,SP81120,SP81144,SP81146,SP81149,SP81156,SP81161,SP81168,SP81189,SP81203,SP81222,SP81226,SP81228,SP81239,SP81241,SP81260,SP81263,SP81264,SP81266,SP81273,SP81335,SP81339,SP81347,SP81353,SP81355,SP81361,SP81363,SP81381,SP81385,SP81389,SP81407,SP81417,SP81422,SP81438,SP81452,SP81467,SP81488,SP81503,SP81513,SP81541,SP81543,SP81557,SP81582 dgv7766n71 8 39331592 39523051 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890722,nsv890729,nsv890753,nsv890752,nsv890755,nsv890759,nsv890758,nsv890757,nsv890732,nsv890720,nsv890764,nsv890773,nsv890770,nsv890772,nsv890771,nsv890788,nsv890783,nsv890790,nsv890797,nsv890763,nsv890735,nsv890730,nsv890789,nsv890736 M 6533 0 252 ADAM3A,ADAM5P IS30311,IS30539,IS31706,IS33830,IS34262,IS35743,IS36727,IS41982,MS11867,MS13480,MS14883,MS18976,MS19634,SP50046,SP50063,SP50073,SP50085,SP50099,SP50109,SP50116,SP50118,SP50125,SP50134,SP50176,SP50532,SP50535,SP50559,SP50561,SP50562,SP50574,SP50593,SP50652,SP50691,SP50723,SP50798,SP50823,SP50832,SP50857,SP50870,SP50872,SP50876,SP50954,SP50996,SP51022,SP51035,SP51037,SP51056,SP51057,SP51058,SP51062,SP51086,SP51161,SP51338,SP51339,SP51411,SP51422,SP51439,SP51440,SP51460,SP51469,SP51473,SP51493,SP52008,SP52035,SP52051,SP52060,SP52095,SP52109,SP52110,SP52131,SP52172,SP52175,SP52274,SP52299,SP52470,SP52475,SP52497,SP52543,SP52559,SP52588,SP52656,SP52661,SP52685,SP52716,SP52717,SP52729,SP52772,SP52834,SP52914,SP52925,SP52946,SP53368,SP53402,SP53448,SP53490,SP53724,SP53863,SP53894,SP53990,SP54043,SP54173,SP54355,SP54408,SP54430,SP54477,SP54490,SP54509,SP54510,SP54552,SP54561,SP54579,SP54593,SP54606,SP54607,SP54614,SP54620,SP54622,SP54625,SP54635,SP54636,SP54648,SP54652,SP54673,SP54684,SP54685,SP54735,SP54766,SP54769,SP54774,SP54789,SP54792,SP54875,SP54956,SP55056,SP55074,SP55100,SP55125,SP55160,SP55174,SP55257,SP55267,SP55287,SP55318,SP55346,SP55381,SP55469,SP55514,SP55548,SP55565,SP55586,SP55610,SP55663,SP55683,SP55684,SP55695,SP55717,SP55729,SP55748,SP55750,SP55789,SP55820,SP55829,SP55835,SP55843,SP55847,SP55856,SP55878,SP55886,SP55915,SP55946,SP55966,SP55970,SP56032,SP56042,SP56079,SP56085,SP56104,SP56119,SP56126,SP56173,SP56196,SP56197,SP56200,SP56238,SP56271,SP56289,SP56294,SP56301,SP56304,SP56307,SP56319,SP56324,SP56350,SP56419,SP56458,SP56518,SP56734,SP56793,SP56795,SP56816,SP56833,SP56862,SP56880,SP56886,SP56913,SP56926,SP56947,SP56959,SP56960,SP56965,SP57027,SP57067,SP57163,SP57193,SP57197,SP57201,SP57226,SP57243,SP57266,SP57269,SP57273,SP57297,SP57314,SP57329,SP57341,SP57443,SP57478,SP57481,SP57501,SP57551,SP57599,SP57640,SP57651,SP57856,SP57860,SP57874,SP57921,SP57925,SP58007,SP58114,SP58215,SP58299,SP58373,SP58465,SP58561,SP58581,SP80914,SP80930,SP80936,SP80959,SP81010,SP81036 dgv7767n71 8 39331592 39548228 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890723,nsv890731 M 6533 2 0 ADAM3A,ADAM5P IS41340,IS41906 dgv7768n71 8 39331592 39556241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890761,nsv890787,nsv890786,nsv890724 M 6533 0 9 ADAM3A,ADAM5P IS30432,IS31179,IS31218,IS31259,IS31419,IS31758,IS33533,IS38162,IS41113 nsv890725 8 39331592 39707021 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550423 S 6533 1 0 ADAM18,ADAM3A,ADAM5P MS18431 esv33764 8 39341029 39341370 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98317,essv99840 M 51 0 2 ADAM5P 21772,22086 dgv7769n71 8 39341981 39476658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890739,nsv890727,nsv890781,nsv890779,nsv890726,nsv890742,nsv890749,nsv890747,nsv890762,nsv890778,nsv890746,nsv890767,nsv890768,nsv890745,nsv890740,nsv890744 M 6533 0 47 ADAM3A,ADAM5P IS30141,IS30368,IS30389,IS30395,IS31835,IS34543,IS35176,IS35378,IS35682,IS36512,IS37351,IS38166,IS38491,IS39194,IS39393,IS40646,IS41456,MS10103,MS10666,MS10821,MS11722,MS11854,MS12103,MS15885,MS16125,MS16932,MS17148,MS17755,MS21803,MS23451,MS23650,MS24052,MS24705,MS24839,SP50725,SP51216,SP51260,SP51309,SP52220,SP53044,SP53969,SP54345,SP54681,SP54816,SP54884,SP55569,SP56841 nsv528858 8 39344125 39350791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705537 S 2026 0 1 ADAM5P nsv527334 8 39344125 39450167 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703759 S 2026 0 1 ADAM3A,ADAM5P dgv7770n71 8 39344125 39518214 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890798,nsv890734,nsv890769,nsv890750,nsv890804 M 6533 5 0 ADAM3A,ADAM5P IS31096,IS33632,IS35138,IS38849,SP55019 dgv146n17 8 39344125 39527585 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437068,nsv437066,nsv437616,nsv437615,nsv437070,nsv437067,nsv437071 M 60 0 7 ADAM3A,ADAM5P NA06991,NA10838,NA10854,NA10855,NA12740,NA19205,NA19208 nsv508503 8 39345182 39498643 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617360 S 4 0 1 ADAM3A,ADAM5P CHM nsv6163 8 39345232 39510046 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3641,nssv6215 M 9 0 2 ADAM3A,ADAM5P NA12156,NA12878 nsv820723 8 39346880 39506576 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420755 S 1 0 1 ADAM3A,ADAM5P NA10851 dgv1179n67 8 39346880 39507871 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824604,nsv824605 M 31 0 12 ADAM3A,ADAM5P AK10,AK12,AK8,NA18526,NA18542,NA18547,NA18552,NA18570,NA18592,NA18942,NA18969,NA18997 nsv819496 8 39348207 39506566 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418787 S 2 1 0 ADAM3A,ADAM5P AK1 esv995573 8 39350267 39506957 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565789 S 3 0 1 ADAM3A,ADAM5P HuRef dgv7771n71 8 39350791 39421156 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890738,nsv890737 M 6533 3 0 ADAM5P SP51042,SP54127,SP54524 dgv7772n71 8 39350791 39475317 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890748,nsv890780,nsv890777,nsv890741,nsv890776,nsv890775,nsv890743 M 6533 19 99 ADAM3A,ADAM5P IS30076,IS30276,IS30308,IS30725,IS30837,IS31282,IS32395,IS32538,IS32679,IS32686,IS32719,IS32864,IS33526,IS33575,IS33795,IS33850,IS33888,IS33975,IS34184,IS34387,IS34951,IS35076,IS35186,IS35245,IS35411,IS35788,IS36011,IS36195,IS36196,IS36689,IS36899,IS37144,IS37766,IS38015,IS38054,IS38103,IS38122,IS38131,IS38142,IS38146,IS38242,IS38291,IS38294,IS38367,IS38494,IS38535,IS38635,IS39088,IS39353,IS39745,IS40029,IS40124,IS40240,IS40247,IS40307,IS40581,IS40703,IS40752,IS40879,IS40928,IS41204,IS41788,IS41798,IS41883,IS41888,IS41904,IS41905,MS10064,MS10065,MS10461,MS10665,MS11064,MS11300,MS11609,MS12055,MS12509,MS12648,MS12785,MS12895,MS13062,MS13195,MS13286,MS13605,MS13810,MS14947,MS15165,MS15232,MS15573,MS15637,MS15926,MS16016,MS17223,MS18053,MS18077,MS18175,MS18261,MS19638,MS21789,MS22146,MS22297,MS22453,MS22971,MS23133,MS23189,MS23542,MS23714,MS24339,MS25345,MS25553,MS25695,SP51221,SP54123,SP54317,SP55024,SP56633,SP57580,SP57700,SP81409 nsv890760 8 39350791 39548228 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569725,nssv1565807,nssv1568686,nssv1588044,nssv1574537,nssv1568144,nssv1600779 M 6533 1 6 ADAM3A,ADAM5P IS30522,IS31205,IS31330,IS31679,IS33592,IS38148,IS41924 esv21867 8 39350819 39506576 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15032,esv12326,esv19748 M 451 26 4 ADAM3A,ADAM5P NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA15510,NA18505,NA18508,NA18517,NA18523,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19240,NA19257 nsv8331 8 39350826 39508063 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17235,nssv16817,nssv16586,nssv20294,nssv19032,nssv16372,nssv19587,nssv18661,nssv16069,nssv19573,nssv21180,nssv16922,nssv20003,nssv17467,nssv18029,nssv17568,nssv17155,nssv17848,nssv17134 M 31 15 4 Samples from several populations that are part of the HapMap project. ADAM3A,ADAM5P NA07029,NA10839,NA11830,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18942,NA18972,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 dgv181e180 8 39351157 39505456 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994002,esv989943 M 3 0 1 ADAM3A,ADAM5P HuRef esv32816 8 39351386 39507955 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101521,essv98786,essv97579,essv101221,essv93826,essv100662,essv101095,essv101087,essv101063,essv95174,essv95121,essv94783,essv94092,essv101411,essv101318,essv101315,essv96876,essv95705,essv95431,essv93019,essv95385,essv97322,essv101630,essv101722,essv101698,essv95819,essv98996,essv99082,essv99098,essv92944,essv93677,essv96597,essv98627,essv100044,essv96051,essv93506,essv99714,essv92658,essv96527,essv99255,essv100503,essv100346,essv100306,essv100297,essv99422 M 51 0 34 ADAM3A,ADAM5P 21603,21606,21616,21618,21634,21656,21693,21721,21791,21802,21805,21817,21841,21847,21863,21872,21879,21909,21911,21938,21939,21972,22011,22085,22086,22127,22128,22217,22233,22261,22275,22298,22300,22335 esv1005931 8 39351475 39361885 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586440 S 3 0 1 ADAM5P HuRef nsv433493 8 39351896 39497557 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463374 S 9 0 1 Samples from several populations that are part of the HapMap project. ADAM3A,ADAM5P NA12156 esv2421469 8 39351896 39506122 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5089894,essv5012435,essv5036530,essv5083310,essv5063198,essv5061084,essv5056615,essv5131513,essv5117802,essv5022734,essv5120274,essv5125035,essv5080337,essv5125540,essv5134454,essv5159034,essv5109603,essv5120062,essv5151161,essv5116042,essv5077766,essv5006546,essv5084889,essv5105900,essv5080570,essv5083209,essv5158717,essv5016028,essv5131136,essv5146856,essv5119229,essv5026767,essv5023734,essv5028622,essv5090827,essv5118405,essv5009594,essv5105798,essv5111219,essv5006627,essv5015151,essv5079586,essv5034279,essv5011698,essv5053607,essv5079681,essv5130536,essv5077108,essv5073611,essv5086384,essv5147855,essv5121896,essv5002293,essv5055761,essv5085189,essv5111332,essv5075233,essv5134048,essv5138428,essv5089457,essv5041965,essv5033990,essv5157424,essv5012511,essv5149938,essv5106453,essv5005026,essv5121836,essv5120690,essv5035663,essv5076803,essv5055984,essv5090721,essv5154448,essv5002144,essv5151031,essv5097710,essv5034448,essv5113439,essv5082333,essv5160412,essv5031591,essv5034487,essv5103670,essv5087623,essv5073070,essv5102547,essv5027038,essv5009049,essv5062420,essv5051769,essv5156732,essv5024123,essv5030859,essv5128596,essv5084410,essv5126841,essv5035991,essv5131863,essv5031372,essv5091352,essv5113217,essv5062418,essv5060273,essv5032622,essv5042672,essv5111230,essv5041252,essv5085656,essv5061670,essv5126374,essv5157456,essv5142372,essv5082482,essv5090220,essv5066127,essv5068258,essv5089168,essv5121597,essv5054823,essv5092348,essv5113957,essv5125903,essv5128674,essv5084941,essv5004817,essv5158376,essv5147886,essv5145364,essv5085108,essv5021883,essv5053879,essv5076730,essv5129955,essv5151220,essv5078972,essv5148752,essv5017924,essv5121138,essv5031703,essv5143422,essv5150470,essv5089307,essv5035236,essv5035645,essv5034501,essv5115925,essv5124650,essv5070348,essv5064319,essv5130067,essv5147530,essv5005564,essv5095350,essv5129454,essv5133765,essv5057438,essv5143432,essv5037999,essv5123066,essv5059937,essv5054611,essv5064245,essv5070102,essv5110473,essv5011247,essv5073592,essv5029099,essv5091078,essv5086916,essv5153106,essv5068688,essv5022482,essv5112500,essv5096727,essv5069023,essv5011113,essv5054038,essv5072075,essv5070875,essv5147292,essv5023872,essv5026625,essv5052373,essv5040190,essv5141513,essv5010047,essv5004057,essv5154937,essv5142163,essv5119478,essv5158693,essv5138749,essv5108913,essv5032321,essv5120820,essv5095009,essv5030342,essv5139835,essv5128588,essv5060350,essv5151612,essv5125526,essv5134674,essv5129462,essv5115055,essv5028569,essv5064337,essv5024512,essv5004291,essv5027997,essv5133593,essv5146196,essv5159183,essv5078392,essv5080058,essv5130282,essv5120935,essv5086349,essv5139145,essv5023081,essv5005630,essv5079960,essv5039039,essv5104128,essv5011312,essv5053638,essv5046964,essv5063284,essv5018730,essv5003931,essv5019080,essv5139286,essv5082799,essv5124516,essv5144081,essv5120353,essv5068426,essv5029938,essv5061868,essv5074771,essv5044627,essv5019916,essv5124219,essv5161207,essv5133718,essv5122476,essv5101393,essv5127491,essv5012210,essv5148471,essv5013395,essv5148559,essv5020045,essv5121713,essv5016185,essv5115225,essv5069096,essv5078756,essv5120926,essv5086137,essv5073048,essv5085516,essv5083631,essv5114232,essv5059984,essv5063416,essv5130625,essv5153374,essv5148320,essv5107643,essv5107711,essv5129827,essv5005463,essv5091529,essv5142626,essv5008597,essv5071314,essv5121999,essv5003359,essv5157408,essv5022765,essv5139335,essv5131312,essv5089277,essv5157827,essv5067432,essv5112823,essv5104863,essv5010274,essv5140994,essv5010055,essv5008136,essv5054740,essv5135794,essv5017646,essv5145278,essv5144495,essv5098514,essv5025562,essv5104648,essv5154807,essv5155068,essv5152907,essv5006223,essv5059402,essv5085961,essv5078982,essv5063661,essv5103946,essv5111750,essv5133536,essv5116444,essv5008438,essv5118558,essv5098693,essv5028185,essv5083037,essv5030246,essv5138472,essv5042383,essv5006704,essv5119758,essv5005967,essv5149172,essv5145208,essv5140086,essv5087836,essv5020466,essv5153375,essv5006928,essv5119936,essv5073945,essv5121402,essv5010921,essv5152717,essv5024921,essv5013507,essv5009933,essv5097659,essv5005018,essv5070035,essv5064478,essv5133380,essv5089147,essv5014066,essv5027173,essv5149019,essv5037757,essv5134718,essv5118974,essv5066122,essv5069244,essv5072783,essv5011917,essv5119143,essv5159837,essv5081207,essv5017034,essv5067297,essv5025618,essv5068377,essv5011159,essv5153403,essv5082144,essv5072605,essv5029799,essv5059442,essv5132859,essv5083458,essv5112413,essv5017394,essv5102227,essv5115575,essv5100201,essv5105201,essv5102277,essv5032378,essv5135045,essv5121059,essv5157448,essv5136439,essv5072087,essv5124822,essv5047131,essv5107980,essv5055441,essv5099869,essv5044074,essv5078529,essv5120425,essv5017559,essv5116938,essv5112346,essv5100750,essv5062168,essv5059547,essv5004492,essv5047319,essv5115649,essv5052115,essv5102233,essv5047545,essv5015099,essv5084119,essv5151440,essv5032285,essv5041826,essv5138609,essv5149367,essv5028703,essv5105043,essv5113468,essv5107118,essv5058214,essv5097561,essv5140120,essv5075836,essv5055070,essv5047824,essv5156915,essv5128982,essv5046911,essv5095895,essv5035416,essv5161191,essv5077141,essv5021958,essv5103630,essv5122009,essv5109598,essv5031476,essv5122005,essv5131528,essv5013015,essv5119386,essv5085480,essv5028923,essv5097611,essv5004975,essv5150432,essv5090373,essv5037258,essv5119693,essv5032291,essv5067377,essv5084929,essv5099516,essv5066733,essv5031661,essv5060175,essv5131489,essv5061816,essv5026172,essv5131499,essv5136863,essv5022182,essv5147153,essv5138019,essv5155059,essv5145760,essv5068193,essv5148426,essv5097157,essv5082198,essv5159143,essv5063551,essv5114231,essv5077504,essv5104130,essv5085278,essv5049760,essv5069906,essv5047631,essv5032036,essv5132619,essv5038529,essv5033496,essv5004023,essv5050846 M 1184 0 480 ADAM3A,ADAM5P NA06985,NA06986,NA06991,NA06993,NA06994,NA06995,NA06997,NA07014,NA07031,NA07045,NA07051,NA07055,NA07346,NA07347,NA07349,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10843,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10856,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11839,NA11840,NA11891,NA11892,NA11893,NA11917,NA11919,NA11920,NA11992,NA11994,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12287,NA12335,NA12340,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12546,NA12707,NA12708,NA12716,NA12718,NA12740,NA12750,NA12752,NA12760,NA12763,NA12766,NA12767,NA12775,NA12777,NA12778,NA12801,NA12802,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12889,NA12891,NA12892,NA17969,NA17976,NA17987,NA17988,NA17990,NA17996,NA17999,NA18102,NA18107,NA18109,NA18125,NA18138,NA18140,NA18147,NA18152,NA18154,NA18160,NA18486,NA18524,NA18526,NA18534,NA18536,NA18552,NA18558,NA18570,NA18579,NA18593,NA18596,NA18605,NA18610,NA18618,NA18623,NA18624,NA18627,NA18630,NA18638,NA18643,NA18670,NA18696,NA18704,NA18749,NA18853,NA18858,NA18860,NA18870,NA18923,NA18925,NA18933,NA18935,NA18942,NA18948,NA18952,NA18954,NA18960,NA18962,NA18965,NA18967,NA18970,NA18971,NA18975,NA18976,NA18987,NA18997,NA19046,NA19062,NA19065,NA19070,NA19075,NA19076,NA19078,NA19085,NA19086,NA19116,NA19117,NA19174,NA19185,NA19190,NA19191,NA19192,NA19203,NA19206,NA19207,NA19208,NA19224,NA19225,NA19226,NA19307,NA19310,NA19317,NA19376,NA19381,NA19396,NA19399,NA19430,NA19436,NA19448,NA19455,NA19474,NA19625,NA19649,NA19651,NA19654,NA19656,NA19657,NA19659,NA19661,NA19663,NA19664,NA19669,NA19670,NA19671,NA19675,NA19677,NA19678,NA19679,NA19680,NA19682,NA19683,NA19684,NA19686,NA19713,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19759,NA19760,NA19762,NA19763,NA19770,NA19772,NA19777,NA19778,NA19779,NA19783,NA19784,NA19788,NA19789,NA19790,NA19795,NA19909,NA19914,NA19915,NA19919,NA20126,NA20277,NA20291,NA20292,NA20294,NA20295,NA20300,NA20332,NA20333,NA20505,NA20506,NA20508,NA20509,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20525,NA20527,NA20530,NA20534,NA20538,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20755,NA20757,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20775,NA20778,NA20783,NA20787,NA20790,NA20792,NA20797,NA20800,NA20801,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20810,NA20811,NA20812,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20852,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20876,NA20877,NA20881,NA20882,NA20883,NA20885,NA20887,NA20891,NA20892,NA20895,NA20896,NA20897,NA20899,NA20900,NA20902,NA20903,NA20906,NA20907,NA20909,NA20910,NA20911,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21098,NA21099,NA21100,NA21101,NA21103,NA21105,NA21106,NA21107,NA21109,NA21111,NA21118,NA21119,NA21137,NA21141,NA21142,NA21143,NA21144,NA21297,NA21312,NA21313,NA21314,NA21320,NA21333,NA21339,NA21359,NA21362,NA21363,NA21364,NA21365,NA21366,NA21367,NA21370,NA21371,NA21384,NA21385,NA21386,NA21388,NA21389,NA21391,NA21400,NA21401,NA21417,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21438,NA21439,NA21441,NA21447,NA21448,NA21453,NA21454,NA21455,NA21473,NA21475,NA21476,NA21477,NA21485,NA21488,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21514,NA21517,NA21519,NA21521,NA21526,NA21527,NA21528,NA21596,NA21599,NA21613,NA21614,NA21615,NA21617,NA21620,NA21634,NA21686,NA21717,NA21718,NA21722,NA21723,NA21784,NA21825 nsv438050 8 39351896 39513212 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469849,nssv469877,nssv469945,nssv469856,nssv469848,nssv469894,nssv469959,nssv469884,nssv469915,nssv469895,nssv469928,nssv469942,nssv469845,nssv469936,nssv469902,nssv469830,nssv469835,nssv469872,nssv469839,nssv469825,nssv469881,nssv469869,nssv469892,nssv469860,nssv469955,nssv469886,nssv469949,nssv469954,nssv469947,nssv469946,nssv469844,nssv469890,nssv469899,nssv469833,nssv469919,nssv469900,nssv469879,nssv469870,nssv469866,nssv469912,nssv469922,nssv469923,nssv469948,nssv469858,nssv469836,nssv469950,nssv469908,nssv469909,nssv469935,nssv469898,nssv469941,nssv469952,nssv469842,nssv469917,nssv469921,nssv469888,nssv469857,nssv469871,nssv469862,nssv469965,nssv469958,nssv469875,nssv469861,nssv469882,nssv469944,nssv469891,nssv469961,nssv469904,nssv469960,nssv469876,nssv469841,nssv469905,nssv469932,nssv469957,nssv469916,nssv469901,nssv469867,nssv469911,nssv469837,nssv469927,nssv469868,nssv469853,nssv469931,nssv469906,nssv469850,nssv469838,nssv469938,nssv469827,nssv469914,nssv469924,nssv469878,nssv469854,nssv469834,nssv469933,nssv469937,nssv469934,nssv469859,nssv469846,nssv469897,nssv469925,nssv469956,nssv469826,nssv469831,nssv469864,nssv469887,nssv469865,nssv469920,nssv469855,nssv469880,nssv469889,nssv469847,nssv469913,nssv469893,nssv469832,nssv469824,nssv469953,nssv469939,nssv469926,nssv469943,nssv469873,nssv469903,nssv469910,nssv469930,nssv469828,nssv469883,nssv469843 M 269 0 54 Samples from several populations that are part of the HapMap project. ADAM3A,ADAM5P NA06985,NA06991,NA07048,NA07055,NA10831,NA10835,NA10838,NA10839,NA10846,NA10847,NA10851,NA10854,NA10855,NA10856,NA10860,NA10863,NA11829,NA11831,NA11839,NA11992,NA12004,NA12005,NA12006,NA12057,NA12144,NA12154,NA12155,NA12156,NA12239,NA12248,NA12249,NA12264,NA12716,NA12740,NA12750,NA12801,NA12802,NA12813,NA12814,NA12864,NA12872,NA12873,NA12875,NA12891,NA18524,NA18526,NA18858,NA18860,NA18942,NA18967,NA19203,NA19205,NA19207,NA19208 nsv515081 8 39352360 39505316 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627953 S 1414 0 1 ADAM3A,ADAM5P dgv7773n71 8 39353461 39442544 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890766,nsv890791,nsv890765 M 6533 0 4 ADAM3A,ADAM5P SP51244,SP54760,SP55039,SP55952 nsv442511 8 39354760 39506122 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ADAM3A,ADAM5P nsv890774 8 39356825 39457081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502604 S 6533 1 0 ADAM3A,ADAM5P SP51293 esv994752 8 39361970 39363212 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586339 S 3 1 0 ADAM5P HuRef nsv511391 8 39363505 39518214 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625997 S 1 1 0 ADAM3A,ADAM5P 1 dgv2230e1 8 39364955 39577487 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3236,essv8853,essv14520,essv11488,essv22428,essv3574,essv2612,essv18401,essv51,essv1468,essv3479,essv4525,essv3878,essv16206,essv10732,essv24821,essv23988,essv20729,essv2456,essv23233,essv891,essv22040,essv5534,essv11876,essv15857,essv6154,essv8751,essv21595,essv22166,essv11199,essv7100,essv15255,essv12543,essv9890,essv4642,essv10001,essv7776,essv3377,essv5178,essv12157,essv8282,essv18646,essv5120,essv11100,essv20290,essv13680,essv541,essv11821,essv17470,essv21770,essv12778,essv13648,essv22536,essv9166,essv4547,essv14632,essv15115,essv20566,essv1006,essv303,essv10089,essv15749,essv4189,essv5475,essv15571,essv5352,essv3128,essv12310,essv14177,essv5146,essv7009,essv23109,essv4838,essv5785,essv4753,essv5929,essv12978,essv23171,essv10478,essv20186,essv23835,essv1243,essv16099,essv19342,essv16775,essv23495,essv16718,essv24675,essv22466,essv1931,essv12627,essv4885,essv1403,essv3046,essv4140,essv4222,essv17783,essv21475,essv14324,essv10535,essv18844,essv8935,essv820,essv14889,essv6316,essv14472,essv20344,essv14404,essv11979,essv6638,essv13171,essv17619,essv6759,essv11720,essv20455,essv23002,essv6943,essv2233,essv14739,essv10219,essv9602,essv10270,essv19122,essv25155,essv3750,essv4046,essv6260,essv4954,essv13041,essv4677,essv5044,essv8482,essv20695,essv17665,essv13845,essv23028,essv10627,essv4398,essv17288,essv13799,essv22524,essv10396,essv16321,essv25017,essv16947,essv6659,essv24569,essv23950,essv16396,essv14111,essv10913,essv15374,essv11768,essv18152,essv21159,essv5994,essv11435,essv19515,essv9752,essv19648,essv14809,essv10832,essv7735,essv7289,essv21965,essv15701,essv9701,essv15450,essv1519,essv21526,essv17176,essv12714,essv2344,essv17910,essv11005,essv1633,essv3803,essv7578,essv22355,essv24642,essv17095,essv3692,essv23143,essv2045,essv17995,essv12380,essv1217,essv16533,essv2901,essv21439,essv18567,essv793,essv22763,essv15997,essv8603,essv13530,essv9052,essv23293,essv1120,essv17229,essv144,essv2667,essv19786,essv24054,essv15494,essv21884,essv3284 M 271 0 0 ADAM18,ADAM3A,ADAM5P NA06985,NA06991,NA06994,NA07000,NA07019,NA07022,NA07029,NA07034,NA07056,NA07348,NA07357,NA10830,NA10831,NA10835,NA10839,NA10846,NA10851,NA10857,NA10859,NA10861,NA11829,NA11832,NA11839,NA11881,NA11882,NA11992,NA11993,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12249,NA12264,NA12716,NA12717,NA12751,NA12752,NA12753,NA12761,NA12762,NA12802,NA12812,NA12814,NA12815,NA12864,NA12873,NA12875,NA12891,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18524,NA18526,NA18529,NA18532,NA18537,NA18540,NA18542,NA18545,NA18550,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18573,NA18576,NA18577,NA18582,NA18592,NA18594,NA18603,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18854,NA18855,NA18856,NA18857,NA18859,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18953,NA18956,NA18959,NA18961,NA18964,NA18966,NA18967,NA18968,NA18969,NA18972,NA18973,NA18974,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18998,NA18999,NA19000,NA19005,NA19007,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19193,NA19194,NA19200,NA19201,NA19202,NA19204,NA19206,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239,NA19240 dgv2231e1 8 39364955 39716796 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6379,essv19931 M 271 0 0 ADAM18,ADAM3A,ADAM5P NA12813,NA18572 dgv7774n71 8 39370187 39475317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890793,nsv890794,nsv890792,nsv890800,nsv890801,nsv890799 M 6533 0 12 ADAM3A,ADAM5P IS32990,IS33553,IS33627,IS38602,IS40872,IS41868,MS11326,MS17310,MS17335,MS17534,MS18326,MS21163 nsv437617 8 39379684 39424950 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467498 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 dgv7775n71 8 39379684 39518214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890802,nsv890815,nsv890807,nsv890805 M 6533 0 7 ADAM3A IS32150,MS14500,MS21308,SP54627,SP56983,SP80957,SP81354 nsv824606 8 39381749 39393237 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437557 S 31 1 0 "" NA18949 nsv890806 8 39393418 39509376 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590094,nssv1574353,nssv1589951,nssv1540997,nssv1583428 M 6533 1 4 ADAM3A IS33545,IS36465,IS38436,IS38459,MS15145 dgv2232e1 8 39394152 39440685 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24360,essv5840,essv5653,essv22612,essv12030,essv18491,essv17676,essv20480,essv23636,essv18510,essv21901,essv13823,essv24544,essv22258,essv23721,essv25094,essv22717,essv19807,essv24440,essv24031,essv1982,essv24609,essv5649,essv25172,essv18020,essv22692,essv25074,essv19819,essv3247,essv21087 M 271 0 0 ADAM3A NA07055,NA10835,NA10838,NA10839,NA10847,NA10854,NA11831,NA11840,NA11992,NA12004,NA12154,NA12156,NA12239,NA12249,NA12763,NA12813,NA12814,NA12864,NA12865,NA12873,NA12875,NA12878,NA12892,NA18524,NA18526,NA18579,NA18853,NA18942,NA18967,NA19116 dgv7776n71 8 39401866 39475317 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890808,nsv890809 M 6533 2 0 ADAM3A IS37645,SP54108 dgv7777n71 8 39401866 39509376 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890810,nsv890814,nsv890813,nsv890817,nsv890820 M 6533 149 37 ADAM3A IS30133,IS30243,IS30245,IS30288,IS30331,IS30340,IS30350,IS30477,IS30493,IS30515,IS30826,IS30993,IS31011,IS31113,IS31283,IS32166,IS32382,IS32523,IS32664,IS32666,IS32727,IS32766,IS32777,IS32803,IS32850,IS32891,IS32892,IS33123,IS33148,IS33188,IS33630,IS33684,IS33689,IS33724,IS34134,IS34361,IS34416,IS34432,IS34612,IS34748,IS34931,IS35174,IS35279,IS35331,IS35354,IS35403,IS35545,IS35770,IS35968,IS36050,IS36153,IS36330,IS36364,IS36517,IS36726,IS36901,IS37292,IS37342,IS37415,IS37546,IS37554,IS37612,IS37628,IS38008,IS38030,IS38081,IS38110,IS38111,IS38112,IS38114,IS38115,IS38137,IS38141,IS38145,IS38226,IS38237,IS38304,IS38371,IS38409,IS38438,IS38454,IS38474,IS38522,IS38524,IS38544,IS38589,IS38593,IS38600,IS39078,IS39258,IS39348,IS39354,IS39400,IS39420,IS39429,IS39525,IS39680,IS39792,IS40076,IS40111,IS40267,IS40291,IS40361,IS40387,IS40402,IS40618,IS40643,IS40673,IS40785,IS40854,IS40862,IS40890,IS40951,IS41051,IS41404,IS41424,IS41497,IS41655,IS41687,IS41737,IS41830,MS10105,MS10127,MS10168,MS10241,MS10350,MS10869,MS11435,MS11694,MS11741,MS12154,MS12347,MS12353,MS12609,MS12630,MS12823,MS12859,MS12917,MS13058,MS13293,MS13469,MS13932,MS14851,MS14905,MS15092,MS15365,MS15541,MS15679,MS16068,MS16521,MS16949,MS17036,MS17484,MS17503,MS17529,MS17773,MS17802,MS18182,MS18387,MS18740,MS19002,MS19006,MS19345,MS19437,MS20239,MS20459,MS20543,MS21315,MS21721,MS21958,MS21992,MS23356,MS23401,MS23720,MS24219,MS24343,MS24471,MS24584,MS24774,MS25087,MS25139,MS25294,MS25986,SP54798,SP57070,SP58257 dgv7778n71 8 39401866 39518214 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890811,nsv890821 M 6533 17 0 ADAM3A IS30140,IS30210,IS34128,IS36957,IS37753,IS38495,IS38582,IS38607,IS39860,IS40234,IS40446,IS40616,IS40769,IS40883,MS13098,MS17842,MS21626 nsv890812 8 39408900 39475317 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582600,nssv1540051,nssv1598716 M 6533 1 2 ADAM3A IS36049,IS41305,MS14676 nsv824607 8 39420048 39420588 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423548 S 31 1 0 "" NA18999 nsv831297 8 39420278 39553850 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447036 S 95 1 0 ADAM3A nsv433247 8 39421344 39497557 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463128 S 9 0 1 Samples from several populations that are part of the HapMap project. ADAM3A NA12878 dgv7779n71 8 39421344 39509376 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv890816,nsv890818,nsv890824 M 6533 52 19 ADAM3A IS30198,IS33023,IS35011,IS35146,IS35253,IS35297,IS36772,IS37605,IS37866,IS37888,IS38128,IS38309,IS38350,IS38400,IS38513,IS39863,IS39929,IS40068,IS40380,IS40944,IS40958,IS41483,IS41703,IS41801,IS41837,IS41859,MS10121,MS10184,MS10324,MS10820,MS10925,MS10999,MS12597,MS12638,MS12863,MS13050,MS13487,MS13916,MS14644,MS14681,MS14684,MS14938,MS15218,MS16308,MS16343,MS16406,MS16959,MS17508,MS18267,MS18406,MS18917,MS20632,MS21700,MS22787,MS22848,MS22930,MS23550,MS25163,MS25219,MS25498,MS25870,SP51123,SP51380,SP53144,SP53972,SP53987,SP53999,SP54118,SP56339,SP56582,SP56889 dgv147n17 8 39421344 39524494 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437618,nsv437072 M 60 0 2 ADAM3A NA10860,NA18860 dgv7780n71 8 39428327 39488915 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890823,nsv890822,nsv890819 M 6533 5 0 ADAM3A SP50690,SP53528,SP54591,SP54967,SP56457 nsv890825 8 39457081 39509376 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502444 S 6533 1 0 ADAM3A SP51175 nsv890826 8 39469612 39556241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542185 S 6533 0 1 ADAM3A MS15704 nsv824608 8 39481400 39481943 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437558 S 31 1 0 ADAM3A NA18949 nsv824610 8 39493552 39494889 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435976 S 31 0 1 ADAM3A NA18566 dgv7781n71 8 39497557 39567417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890827,nsv890828 M 6533 0 2 ADAM18,ADAM3A IS31228,IS40368 dgv7782n71 8 39497557 39641770 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890829,nsv890832 M 6533 0 2 ADAM18,ADAM3A IS41224,MS11467 dgv7783n71 8 39497557 39705515 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890834,nsv890830 M 6533 0 2 ADAM18,ADAM3A MS15199,MS19587 nsv824611 8 39497842 39498800 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437559 S 31 1 0 ADAM3A NA18949 esv33750 8 39507846 39563631 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98730,essv99935 M 51 0 2 ADAM18 21606,22086 nsv890831 8 39524494 39579937 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567881 S 6533 0 1 ADAM18 IS31169 nsv890833 8 39524494 39783853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579413 S 6533 0 1 ADAM18,ADAM2 IS35100 nsv8332 8 39537529 39540575 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21210 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 nsv890835 8 39558675 39641770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546170 S 6533 0 1 ADAM18 MS17114 nsv890836 8 39599523 39770097 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532261 S 6533 0 1 ADAM18,ADAM2 MS10737 esv271607 8 39615016 39615291 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496860,essv2509843,essv2513408,essv2501242,essv2498914,essv2497554,essv2510443 M 157 7 0 Samples from several populations that are part of the HapMap project. ADAM18 NA18498,NA18508,NA18907,NA19093,NA19138,NA19147,NA19172 nsv890837 8 39627026 39728783 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581402 S 6533 0 1 ADAM18,ADAM2 IS35572 nsv522716 8 39641770 39714136 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698346 S 2026 0 1 ADAM18 nsv890838 8 39644331 39705515 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578448 S 6533 0 1 ADAM18 IS34779 nsv510141 8 39645777 39651777 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618288,nssv622159 M 4 0 2 ADAM18 CHM,NA10860 nsv890839 8 39672418 39783853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575813 S 6533 0 1 ADAM18,ADAM2 IS33811 esv2225914 8 39672757 39673167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4683989 S 1 0 1 ADAM18 NA18507 nsv520045 8 39716485 39718817 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680103,nssv677838,nssv697364,nssv680179,nssv660283,nssv680497,nssv682055,nssv682559,nssv660260 M 2026 3 6 "" nsv890840 8 39716485 39783853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574227 S 6533 0 1 ADAM2 IS33531 nsv8333 8 39716554 39717095 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16952,nssv19603 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA18504 nsv526355 8 39727788 39728783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702648 S 2026 0 1 ADAM2 esv273564 8 39819597 39819674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581736,essv2583081,essv2584189,essv2584430,essv2583668 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv269299 8 39819598 39819787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575931,essv2546165,essv2526264,essv2536754,essv2543924,essv2531954,essv2548535,essv2521657,essv2564476,essv2553589,essv2576245,essv2564177,essv2561902,essv2537401,essv2546933,essv2539978,essv2564843,essv2561094,essv2566111,essv2529019,essv2535777,essv2559263,essv2556350,essv2562424,essv2578435,essv2527506,essv2531645,essv2573671,essv2529431,essv2574835,essv2560184,essv2549886,essv2537723,essv2548695,essv2558061 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA10851,NA11830,NA11881,NA11918,NA11920,NA11992,NA12006,NA12045,NA12144,NA12751,NA12763,NA12814,NA12828,NA12874,NA12878,NA12892,NA18489,NA18558,NA18562,NA18572,NA18579,NA18608,NA18638,NA18871,NA18909,NA18940,NA18952,NA18961,NA18964,NA19093,NA19138,NA19190,NA19225 nsv6164 8 39831688 39832711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6216 S 9 1 0 "" NA12156 nsv508505 8 39849251 39910488 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620009 S 4 0 1 IDO1 NA15510 esv2632441 8 39884233 39885773 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299914 S 1 0 1 "" NA18507 esv2072361 8 39884289 39884999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4792429 S 1 0 1 "" NA18507 esv6165 8 39884463 39884804 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28606 S 1 0 1 "" SJK esv1192438 8 39884487 39884819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878828 S 2 0 1 "" HuRef esv1987205 8 39971208 39971587 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859287 S 1 0 1 IDO2 NA18507 esv28649 8 40004834 40009568 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18474 S 451 0 1 "" NA12878 nsv398207 8 40180120 40188506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416785 M 24 "" esv267923 8 40191570 40191919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498640,essv2505968 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18858,NA18861 nsv510142 8 40201574 40207574 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618289 S 4 0 1 "" CHM esv2593738 8 40236332 40237813 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196047 S 1 0 1 "" NA18507 nsv6166 8 40275861 40326682 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5081,nssv6217 M 9 0 2 "" NA12156,NA19129 dgv148n17 8 40295676 40312571 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437073,nsv437074 M 60 0 2 "" NA10831,NA10847 nsv8334 8 40301316 40309268 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16295,nssv18059 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA10847,NA19173 nsv515952 8 40301460 40310033 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679703,nssv672121,nssv651961,nssv667483,nssv675517,nssv666358,nssv655873,nssv655460,nssv675614,nssv652331,nssv682409,nssv657247,nssv671837,nssv691004,nssv669290,nssv668193,nssv666330,nssv691409,nssv672837,nssv692571,nssv654655,nssv693712,nssv666957,nssv682041,nssv676800,nssv675326,nssv685830,nssv654581,nssv659678,nssv674150,nssv673644,nssv661357,nssv684948,nssv687017,nssv653220,nssv661433,nssv678523,nssv661970,nssv657766,nssv667166,nssv669666,nssv672098,nssv691408,nssv665850,nssv652412,nssv676348,nssv659549,nssv690187,nssv671955,nssv675781,nssv676512,nssv681324,nssv690843,nssv653989,nssv683409,nssv693248,nssv658342,nssv690505,nssv680948,nssv672292,nssv652752,nssv664054,nssv675356,nssv677346,nssv652568,nssv661950,nssv684236,nssv674355,nssv655744,nssv688473,nssv666727,nssv670872,nssv655438,nssv689725,nssv652700,nssv651857,nssv685740,nssv689010,nssv685609,nssv664493,nssv691497,nssv678364,nssv671436,nssv657226,nssv690425,nssv664811,nssv664839,nssv656485,nssv681986,nssv674266,nssv663567,nssv692077,nssv659392,nssv661244,nssv674288,nssv685920,nssv693733,nssv689989,nssv678626,nssv655893,nssv672201,nssv688378,nssv667906,nssv679389,nssv654792,nssv684122,nssv691603,nssv674211,nssv665072,nssv688919,nssv661801,nssv690637,nssv684747,nssv665188,nssv671977,nssv670356,nssv668367,nssv670991,nssv682250,nssv692232,nssv657944,nssv679632,nssv678958,nssv657895,nssv657013,nssv692696,nssv673171,nssv690989,nssv664343,nssv688781,nssv691838,nssv669948,nssv660111,nssv676528,nssv662843,nssv660463,nssv652228,nssv692272,nssv668032,nssv653874,nssv686344,nssv691468,nssv659120,nssv674728,nssv688853,nssv653397,nssv667811,nssv667853,nssv659645,nssv678038,nssv667237,nssv667610,nssv672604,nssv686571,nssv655956,nssv659514,nssv676025,nssv684448,nssv671278,nssv677973,nssv680312,nssv652832,nssv665422,nssv660261,nssv668623,nssv683202,nssv670034,nssv677800,nssv692183,nssv658313,nssv675136,nssv670502,nssv662725,nssv686376,nssv679366,nssv673936,nssv668465,nssv677996,nssv670146,nssv680121,nssv688117,nssv693222,nssv678231,nssv657542,nssv660146,nssv684960,nssv682215,nssv672542,nssv688732,nssv667670,nssv677828,nssv691720,nssv692738,nssv662550,nssv690056,nssv677548,nssv667930,nssv668071 M 2026 0 198 "" esv29344 8 40301941 40309124 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14678 S 451 0 3 "" NA12156,NA12239,NA18907 nsv499763 8 40302010 40308975 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586077 S 9 0 1 "" nsv508506 8 40302120 40309731 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617361 S 4 0 1 "" CHM nsv442512 8 40302954 40308668 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421465 8 40302954 40308706 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5006419,essv5102665,essv5148424,essv5061386,essv5148169,essv5133063,essv5116184,essv5054388,essv5083175,essv5129551,essv5077234,essv5007834,essv5058361,essv5049414,essv5035711,essv5117966,essv5057974,essv5158646,essv5014769,essv5041283,essv5102161,essv5113292,essv5038847,essv5051309,essv5100619,essv5120789,essv5012919,essv5019225,essv5125049,essv5020604,essv5154870,essv5136529,essv5053957,essv5156080,essv5028026,essv5108078,essv5060637,essv5130432,essv5124456,essv5045080,essv5098612,essv5070371,essv5007287,essv5011850,essv5095259,essv5003479,essv5072641,essv5030232,essv5074461,essv5093196,essv5021339,essv5071727,essv5080636,essv5126975,essv5113961,essv5028878,essv5040297,essv5114560,essv5140406,essv5049158,essv5036094,essv5063842,essv5025864,essv5027703,essv5113287,essv5146109,essv5022823,essv5074206,essv5118404,essv5114022,essv5034915,essv5020873,essv5148274,essv5130734,essv5054793,essv5079803,essv5103899,essv5124725,essv5047044,essv5007409,essv5156371,essv5133446,essv5063407,essv5001934,essv5134905,essv5003801,essv5152976,essv5099700,essv5080272,essv5012987,essv5155711,essv5150681,essv5129930,essv5125741,essv5018667,essv5065104,essv5115985,essv5011803,essv5015705,essv5100761,essv5024369,essv5030669,essv5026570,essv5083277 M 1184 0 104 "" NA10831,NA10835,NA10836,NA10843,NA10847,NA11843,NA11891,NA11920,NA12156,NA12239,NA12248,NA12275,NA12340,NA12343,NA12344,NA12348,NA12413,NA12873,NA18501,NA18510,NA18867,NA18869,NA18871,NA18917,NA18930,NA19027,NA19041,NA19044,NA19140,NA19150,NA19151,NA19171,NA19173,NA19189,NA19191,NA19207,NA19210,NA19211,NA19213,NA19214,NA19215,NA19235,NA19237,NA19314,NA19316,NA19350,NA19375,NA19393,NA19394,NA19435,NA19436,NA19449,NA19451,NA19452,NA19468,NA19471,NA19625,NA19681,NA19750,NA19751,NA19774,NA19775,NA20300,NA20302,NA20322,NA20334,NA20335,NA20336,NA20359,NA20544,NA20582,NA20755,NA20761,NA20772,NA20785,NA20853,NA20854,NA20861,NA20873,NA20881,NA20884,NA20887,NA20898,NA20906,NA20908,NA21086,NA21094,NA21125,NA21363,NA21382,NA21383,NA21440,NA21447,NA21473,NA21486,NA21491,NA21521,NA21524,NA21525,NA21613,NA21648,NA21685,NA21686,NA21738 nsv515082 8 40303456 40308904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627954 S 1414 0 1 "" nsv438051 8 40303569 40308706 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469967,nssv469968,nssv469966,nssv469969 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10831,NA10847,NA12156,NA12239 nsv818619 8 40304748 40308096 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415665,nssv1416569,nssv1418383,nssv1416570,nssv1415664,nssv1415850,nssv1418382 M 112 0 7 "" NA10835,NA10847,NA12239,NA12248,NA19140,NA19171,NA19173 nsv890841 8 40350085 40551148 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597219 S 6533 0 1 ZMAT4 IS40775 esv1170261 8 40385051 40385051 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806879 S 2 1 0 "" HuRef esv1144488 8 40385071 40385145 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366619 S 2 0 1 "" HuRef nsv436567 8 40408213 40415673 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466452 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv512039 8 40408768 40415446 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624589 S 1 0 1 "" 1 esv8939 8 40408844 40415522 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31380 S 1 0 1 "" SJK esv25346 8 40437333 40437958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16641 S 451 0 1 "" NA18858 esv33641 8 40560906 40575649 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95663 S 51 1 0 ZMAT4 21841 esv2024539 8 40578124 40578527 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708018 S 1 0 1 ZMAT4 NA18507 esv5394 8 40578224 40578529 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27835 S 1 0 1 Single Asian sample YH ZMAT4 YH esv23484 8 40588901 40589445 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11833 S 451 36 0 ZMAT4 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821546 8 40588901 40589445 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420756 S 1 0 1 ZMAT4 NA10851 esv33198 8 40588917 40590960 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100723 S 51 0 1 ZMAT4 21656 esv33015 8 40593623 40593786 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98130,essv96972,essv97145,essv100433 M 51 4 0 ZMAT4 21772,21817,22075,22300 nsv519446 8 40603396 40609019 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696858 S 2026 1 0 ZMAT4 nsv890842 8 40613995 40658513 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591482 S 6533 0 1 ZMAT4 IS38846 nsv523192 8 40634761 40658513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698908 S 2026 1 0 ZMAT4 nsv523193 8 40790271 40794888 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698909 S 2026 1 0 ZMAT4 nsv512951 8 40797396 40797576 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625603 S 1 1 0 ZMAT4 1 nsv465638 8 40822524 40859630 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541408 S 1557 0 1 ZMAT4 1798860372_A nsv522210 8 40841485 40912690 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694986 S 2026 0 1 ZMAT4 nsv6167 8 40882037 40907073 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6218,nssv3642,nssv1732,nssv5082 M 9 0 4 "" NA12156,NA12878,NA18555,NA19129 nsv511404 8 40892665 40900715 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626012 S 1 0 1 "" 1 nsv508507 8 40892696 40987090 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618832 S 4 0 1 "" NA10860 esv2489354 8 40892828 40899360 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256689 S 1 0 1 "" NA18507 esv990005 8 40893038 40899467 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564044 S 3 0 1 "" HuRef dgv1180n67 8 40893467 40899516 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824613,nsv824612 M 31 0 18 "" AK14,AK16,AK2,AK4,AK6,NA18537,NA18542,NA18547,NA18552,NA18564,NA18942,NA18947,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv820359 8 40893467 40899516 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420757 S 1 0 1 "" NA10851 nsv820314 8 40893601 40899521 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419742 S 2 0 1 "" AK1 nsv435863 8 40893619 40899501 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466453 S 2 0 1 "" NA15510 nsv512040 8 40893696 40898980 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624590 S 1 0 1 "" 1 dgv55n47 8 40893779 40898947 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499676,nsv499517 M 9 0 2 "" nsv515083 8 40893864 40898624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627955 S 1414 0 1 "" esv24199 8 40893875 40898691 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18034 S 451 14 9 "" NA06985,NA07037,NA07045,NA11993,NA12044,NA12156,NA12239,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18858,NA18861,NA18907,NA18916,NA19099,NA19147,NA19190,NA19240,NA19257 esv2517286 8 40894776 40896814 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392185 S 1 0 1 "" NA18507 esv270303 8 40914751 40914836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516418 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv396419 8 41003596 41003596 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414997 M 24 "" esv1385535 8 41003643 41003643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807241 S 2 1 0 "" HuRef nsv890843 8 41104654 41371247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578514 S 6533 1 0 SFRP1 IS34797 esv993390 8 41176914 41177410 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587266 S 3 0 1 "" HuRef nsv831298 8 41198833 41337788 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447038,nssv1447037 M 95 1 1 SFRP1 nsv438052 8 41226502 41227279 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469970 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18632 esv33397 8 41240377 41347615 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98081 S 51 0 1 SFRP1 22259 esv1509288 8 41276256 41276256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4184074 S 2 1 0 SFRP1 HuRef esv2512249 8 41306743 41307662 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5310146 S 1 1 0 "" NA18507 esv1153586 8 41306988 41306988 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4021986 S 2 1 0 "" HuRef esv268843 8 41389593 41389937 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516739,essv2517421,essv2517126,essv2515522,essv2515144,essv2516465,essv2515679,essv2517953,essv2517847,essv2516916,essv2517351,essv2515234,essv2518896,essv2513725 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA11918,NA11931,NA12249,NA12812,NA12814,NA12815,NA12872,NA12878,NA12892,NA18970,NA19238,NA19239 esv273008 8 41389598 41389930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582082,essv2582374,essv2584386,essv2583617 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv2609573 8 41397922 41399414 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390144 S 1 0 1 "" NA18507 nsv512041 8 41398053 41399322 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624591 S 1 0 1 "" 1 esv2159585 8 41398305 41399013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868860 S 1 0 1 "" NA18507 esv2833 8 41398442 41398861 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25274 S 1 0 1 Single Asian sample YH "" YH esv8891 8 41398491 41398811 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31332 S 1 0 1 "" SJK esv991037 8 41398493 41398815 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577319 S 3 0 1 "" HuRef esv1410134 8 41398501 41398824 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137258 S 2 0 1 "" HuRef nsv397308 8 41398502 41398824 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415886 M 24 "" nsv831299 8 41425293 41669161 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447040 S 95 0 1 AGPAT6,ANK1,GINS4,GOLGA7,MIR486,NKX6-3 esv1225483 8 41534937 41534937 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830506 S 2 1 0 "" HuRef esv1146769 8 41534978 41535230 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3807726 S 2 0 1 "" HuRef esv1330561 8 41613894 41613983 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013654 S 2 0 1 "" HuRef nsv824614 8 41659718 41661208 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434526 S 31 0 1 ANK1 NA18570 nsv890844 8 41667469 41710431 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543526 S 6533 0 1 ANK1 MS16153 nsv831300 8 41795492 41975651 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447041 S 95 0 1 ANK1,KAT6A nsv818620 8 41842707 41848950 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417289 S 112 0 1 ANK1 NA18608 esv2475153 8 41876958 41877628 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384826 S 1 1 0 "" NA18507 nsv512952 8 41877252 41877351 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625604 S 1 1 0 "" 1 esv1126253 8 41877304 41877304 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157023 S 2 1 0 "" HuRef esv1334435 8 41877367 41877367 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059518 S 2 1 0 "" HuRef esv2445048 8 41994816 41996336 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5279432 S 1 0 1 KAT6A NA18507 nsv824615 8 42025789 42031020 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433768 S 31 1 0 KAT6A NA18526 nsv521189 8 42027305 42033161 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697835 S 2026 0 1 KAT6A nsv397995 8 42030309 42030937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416573 M 24 "" esv7539 8 42049402 42049737 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29980 S 1 0 1 "" SJK nsv6168 8 42069647 42114305 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3643 S 9 0 1 "" NA12878 nsv824616 8 42158835 42159373 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434041 S 31 0 1 PLAT NA18592 esv270558 8 42159031 42159365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514546,essv2514894,essv2515295,essv2516498,essv2515733,essv2517916,essv2515883,essv2514228,essv2517592 M 157 9 0 Samples from several populations that are part of the HapMap project. PLAT NA11840,NA12234,NA12249,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878 esv274051 8 42159031 42159365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581404 S 7 1 0 Samples from several populations that are part of the HapMap project. PLAT NA12878 nsv398046 8 42159064 42168674 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416624 M 24 PLAT nsv890845 8 42161567 42178404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516592 S 6533 0 1 PLAT SP56874 nsv831301 8 42220755 42450341 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447042 S 95 0 1 DKK4,IKBKB,POLB,SLC20A2,VDAC3 nsv508508 8 42233277 42332154 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617362,nssv622594,nssv618833 M 4 0 3 IKBKB,POLB CHM,NA10860,NA18994 nsv6169 8 42275666 42319254 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1733,nssv6219,nssv3644 M 9 0 3 IKBKB,POLB NA12156,NA12878,NA18555 nsv398024 8 42292598 42301196 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416602 M 24 IKBKB esv1003654 8 42304378 42304860 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564525 S 3 0 1 IKBKB HuRef esv1761681 8 42304486 42304798 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770564 S 2 0 1 IKBKB HuRef dgv128n16 8 42308213 42314780 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436573,nsv435872 M 2 0 2 IKBKB NA15510,NA18505 dgv182e180 8 42309451 42314787 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990085,esv1008521 M 3 0 1 "" HuRef nsv512042 8 42309537 42313678 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624592 S 1 0 1 "" 1 nsv396143 8 42309547 42313509 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414721 M 24 "" dgv56n47 8 42309588 42313560 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499321,nsv499684 M 9 0 2 "" esv1164775 8 42309596 42313559 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4071419 S 2 0 1 "" HuRef esv8180 8 42309596 42313562 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30621 S 1 0 1 "" SJK esv23847 8 42309719 42313291 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19642 S 451 21 0 "" NA11894,NA12004,NA12489,NA12828,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv820325 8 42309719 42313291 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420759 S 1 0 1 "" NA10851 nsv824617 8 42309719 42313291 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438271,nssv1423550,nssv1435216,nssv1433769,nssv1437560,nssv1438950,nssv1422724,nssv1439792,nssv1431443,nssv1427609,nssv1424340,nssv1440465,nssv1429202,nssv1427915,nssv1441074,nssv1432988,nssv1428429,nssv1436784,nssv1434527,nssv1425105,nssv1434052 M 31 4 17 "" AK10,AK12,AK18,AK2,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18999 nsv397871 8 42324131 42324131 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416449 M 24 POLB nsv396084 8 42391327 42400781 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414662 M 24 SLC20A2 nsv6170 8 42470922 42502299 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5083 S 9 1 0 SLC20A2 NA19129 esv988619 8 42496308 42499912 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564325 S 3 1 0 SLC20A2 HuRef nsv397520 8 42705051 42705395 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416098 M 24 CHRNB3 esv271526 8 42718381 42718466 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516941,essv2516245 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA12891 esv272557 8 42718387 42718685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580388 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 nsv890846 8 42744820 43359280 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564797 S 6533 1 0 FNTA,HGSNAT,HOOK3,MIR4469,POTEA,RNF170,SGK196,THAP1 IS30300 nsv6171 8 42827761 42861632 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv727 S 9 1 0 RNF170 NA19240 esv2628601 8 42858893 42859405 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163781 S 1 1 0 RNF170 NA18507 nsv512953 8 42858931 42859353 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625605 S 1 1 0 RNF170 1 esv1916461 8 42962741 42963153 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4544682 S 1 0 1 HOOK3 NA18507 nsv831302 8 43028640 43224677 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447043 S 95 0 1 FNTA,HGSNAT,SGK196 esv2547171 8 43038874 43040886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223889 S 1 0 1 FNTA NA18507 esv2235385 8 43039671 43040967 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953959 S 1 0 1 FNTA NA18507 nsv470208 8 43056765 43910848 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546725,nssv546722,nssv546724,nssv546719,nssv546726,nssv546720,nssv546723 M 443 7 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FNTA,HGSNAT,POTEA,SGK196 HGDP00376,HGDP00587,HGDP00608,HGDP00616,HGDP00624,HGDP00650,HGDP00694 dgv883n27 8 43143782 43910848 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465640,nsv465642,nsv465643,nsv465641,nsv465645 M 1557 5 0 HGSNAT,POTEA HGDP00258,HGDP00608,HGDP00650,HGDP00694,HGDP00776 nsv519841 8 43143782 43910848 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689990,nssv662225,nssv671799,nssv686284,nssv687308,nssv692040,nssv658988,nssv704757,nssv688817,nssv691410,nssv701354,nssv685362 M 2026 2 10 HGSNAT,POTEA nsv465644 8 43206085 43405534 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541414 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations POTEA HGDP00587 nsv509262 8 43211620 43219338 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623534,nssv619525 M 4 2 0 "" NA10860,NA18994 esv25396 8 43211881 43216618 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18359 S 451 1 2 "" NA12156,NA18909,NA19108 esv7276 8 43211958 43212051 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29717 S 1 1 0 "" SJK dgv117e19 8 43212102 43216567 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv6666,esv6450,esv6825,esv9368,esv8488,esv8596,esv8858 M 1 0 0 "" SJK esv6360 8 43212145 43212253 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28801 S 1 1 0 "" SJK esv4016 8 43212291 43212402 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26457 S 1 0 0 Single Asian sample YH "" YH esv3282 8 43212293 43212553 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25723 S 1 0 0 Single Asian sample YH "" YH esv9688 8 43212303 43213522 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32129 S 1 0 0 "" SJK esv5805 8 43212318 43212398 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28246 S 1 1 0 "" SJK esv7962 8 43212439 43212963 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30403 S 1 0 1 "" SJK dgv118e19 8 43212457 43215841 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv6394,esv5450,esv8513,esv5767,esv8139,esv5960,esv6280 M 1 0 0 "" SJK esv4233 8 43212559 43212670 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26674 S 1 0 0 Single Asian sample YH "" YH esv5223 8 43212592 43215580 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27664 S 1 0 0 Single Asian sample YH "" YH esv3919 8 43212944 43213046 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26360 S 1 0 0 Single Asian sample YH "" YH dgv119e19 8 43213016 43214998 OTHER Inversion Ahn et al 2009 19470904 Sequencing esv8533,esv8728,esv7065 M 1 0 0 "" SJK esv2942 8 43213031 43214438 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25383 S 1 0 0 Single Asian sample YH "" YH esv6442 8 43213814 43213924 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28883 S 1 1 0 "" SJK esv5352 8 43213870 43215999 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27793 S 1 0 0 Single Asian sample YH "" YH esv6846 8 43214934 43215033 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29287 S 1 1 0 "" SJK esv7674 8 43214975 43215091 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30115 S 1 1 0 "" SJK esv7593 8 43215129 43216622 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30034 S 1 0 1 "" SJK esv5785 8 43215131 43215237 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28226 S 1 1 0 "" SJK esv3508 8 43215440 43215970 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25949 S 1 0 0 Single Asian sample YH "" YH esv1206951 8 43215537 43215537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340149 S 2 1 0 "" HuRef esv1157774 8 43216084 43216084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636746 S 2 1 0 "" HuRef esv1117526 8 43216162 43216162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116603 S 2 1 0 "" HuRef nsv510143 8 43216338 43222338 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621333 S 4 0 1 "" NA15510 esv4764 8 43216340 43216615 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27205 S 1 0 0 Single Asian sample YH "" YH esv1023683 8 43216475 43216475 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729915 S 2 1 0 "" HuRef esv1634693 8 43216479 43216479 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043558 S 2 1 0 "" HuRef esv1499412 8 43216582 43216582 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065895 S 2 1 0 "" HuRef esv1399894 8 43216643 43216643 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800102 S 2 1 0 "" HuRef esv2418524 8 43219396 43219791 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559680 S 1 0 1 "" NA18507 nsv510144 8 43230193 43236193 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622160,nssv624064 M 4 0 2 "" NA10860,NA18994 esv1594845 8 43251848 43252301 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4058575 S 2 0 1 "" HuRef nsv819950 8 43316098 43331157 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418651 S 2 0 1 POTEA AK1 esv1935330 8 43334519 43335051 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4736412 S 1 0 1 POTEA NA18507 esv2635901 8 43340250 43341547 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341349 S 1 0 1 "" NA18507 esv2080929 8 43340474 43341157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812818 S 1 0 1 "" NA18507 esv26199 8 43534427 43958014 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13826,esv17696,esv21315 M 451 5 27 "" NA07037,NA07045,NA11894,NA11995,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 esv2400371 8 43573376 43573854 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996734 S 1 0 1 "" NA18507 esv4631 8 43573498 43573708 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27072 S 1 0 1 Single Asian sample YH "" YH esv2590148 8 43573556 43573653 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336231 S 1 0 1 "" NA18507 esv1201922 8 43573558 43573656 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3607645 S 2 0 1 "" HuRef esv1570477 8 43611965 43612245 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174374 S 2 0 1 "" HuRef esv2752256 8 43618300 43820300 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983630,essv6989834 M 771 0 1 "" BEC_674 nsv465652 8 43658198 43910848 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541417 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00624 esv4630 8 43678430 43739342 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27071 S 1 0 1 Single Asian sample YH "" YH nsv465654 8 43689385 43868883 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541418 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00286 nsv465656 8 43746145 43868883 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541419 S 1557 0 1 "" NINDS_259 nsv820815 8 43750378 43755781 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420760 S 1 1 0 "" NA10851 nsv465658 8 43765570 43811979 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541420 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00798 nsv465662 8 43770263 43831744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541422 S 1557 0 1 "" 1798860336_A dgv884n27 8 43770263 43910848 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465664,nsv465663,nsv465665 M 1557 0 3 "" 1780854065_A,1798860280_A,HGDP00110 esv1610521 8 43879918 43880933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846119 S 2 0 1 "" HuRef esv8121 8 43943587 43948383 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30562 S 1 0 1 "" SJK esv6883 8 43943596 43945017 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29324 S 1 0 1 "" SJK nsv436089 8 43943650 43947513 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466458 S 2 1 0 "" NA15510 nsv436595 8 43944979 43951179 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466459 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv9640 8 43946305 43950724 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32081 S 1 0 1 "" SJK esv24859 8 46958111 46977129 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15439 S 451 1 2 "" NA07045,NA11931,NA12749 nsv820693 8 46958111 46977129 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420761 S 1 1 0 "" NA10851 esv6226 8 46960984 46964689 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28667 S 1 0 1 "" SJK nsv436912 8 46960997 46970597 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466466 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436005 8 46961216 46961513 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466467 S 2 1 0 "" NA15510 nsv428199 8 46987707 47399785 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451510 S 62 1 0 "" HGDP01093 nsv516063 8 47062007 47859016 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675245,nssv672779,nssv671503,nssv684878,nssv658399,nssv661004,nssv695868,nssv654214,nssv663689,nssv693391,nssv677632,nssv701099,nssv653291,nssv660919,nssv697854,nssv672838,nssv663552,nssv679633,nssv689135,nssv680366,nssv698565,nssv660044,nssv667013,nssv682503,nssv672150,nssv672151,nssv670084,nssv685625,nssv668692,nssv692273,nssv682216,nssv668745,nssv702321,nssv701513,nssv674760,nssv670133,nssv677780,nssv701098,nssv705174,nssv654924,nssv662637,nssv685677,nssv657467,nssv687189,nssv654717,nssv681923,nssv705949,nssv667303,nssv691280,nssv672362,nssv695656,nssv683605,nssv665404,nssv689835,nssv687466,nssv661527,nssv678978,nssv651836,nssv700278,nssv688565,nssv658158,nssv652267,nssv669615,nssv664621,nssv703638,nssv652464,nssv676704,nssv688097,nssv670791,nssv688035,nssv654196,nssv692908,nssv665942,nssv663256 M 2026 24 50 "" esv27551 8 47073378 47111313 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21259 S 451 1 0 "" NA06985 nsv831304 8 47102600 47282188 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447044,nssv1447045 M 95 0 2 "" nsv512043 8 47110699 47111766 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624593 S 1 0 1 "" 1 esv2890 8 47110714 47111693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25331 S 1 0 1 Single Asian sample YH "" YH esv6842 8 47110781 47111596 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29283 S 1 0 1 "" SJK esv1704626 8 47110788 47111640 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831964 S 2 0 1 "" HuRef esv28856 8 47111665 47309326 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10681,esv14868 M 451 1 1 "" NA07045,NA18508 nsv465666 8 47180142 47859016 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541426 S 1557 0 1 "" 1787431197_A nsv831305 8 47199356 47359806 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447048,nssv1447047,nssv1447046 M 95 0 3 "" nsv465667 8 47224322 47287319 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541427 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01330 nsv433400 8 47224322 47297374 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463281 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv470209 8 47224323 47287319 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546728,nssv546727 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00696,HGDP01286 dgv885n27 8 47229654 47309786 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465673,nsv465670,nsv465674 M 1557 0 3 "" HGDP00862,HGDP00895,NINDS_70 nsv436598 8 47265169 47272437 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466468 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv886n27 8 47287319 47400858 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465677,nsv465675 M 1557 0 2 "" 1780854039_A,1780862573_A esv24634 8 47318906 47321974 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17169 S 451 0 3 "" NA18858,NA18909,NA19190 esv7632 8 47333757 47335348 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30073 S 1 0 1 "" SJK nsv831306 8 47345318 47541900 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447049 S 95 0 1 "" esv2204968 8 47376229 47376730 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860225 S 1 0 1 "" NA18507 nsv509263 8 47384261 47481837 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619526 S 4 1 0 "" NA10860 nsv512044 8 47403180 47479634 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624594 S 1 0 1 "" 1 esv25893 8 47404186 47479643 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16768,esv19384 M 451 2 0 "" NA07045,NA18508 esv28259 8 47491810 47496940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16319 S 451 0 2 "" NA06985,NA12749 dgv30e196 8 47497632 47562753 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422350,esv2422266 M 181 2 0 "" ND03938,ND04019 esv2452365 8 47499523 47501274 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266807 S 1 0 1 "" NA18507 esv2213017 8 47500270 47501023 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929429 S 1 0 1 "" NA18507 esv4136 8 47500415 47500854 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26577 S 1 0 1 Single Asian sample YH "" YH esv1729434 8 47500485 47500818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3943902 S 2 0 1 "" HuRef esv9212 8 47500494 47500802 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31653 S 1 0 1 "" SJK nsv831307 8 47520938 47714847 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447051 S 95 1 0 "" nsv511397 8 47521923 47540252 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626004 S 1 0 1 "" 1 nsv512045 8 47524709 47527660 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624595 S 1 0 1 "" 1 esv1002196 8 47524916 47527067 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586706 S 3 0 1 "" HuRef esv27840 8 47524916 47527171 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17176,esv17060 M 451 0 11 "" NA07045,NA11931,NA11995,NA12006,NA12044,NA12156,NA12287,NA12414,NA12776,NA12828,NA12878 esv5103 8 47524979 47527224 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27544 S 1 0 1 Single Asian sample YH "" YH esv1362910 8 47525016 47527081 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260248 S 2 0 1 "" HuRef esv6329 8 47525020 47527093 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28770 S 1 0 1 "" SJK essv25128 8 47534345 47624665 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA10856 dgv2233e1 8 47609486 47672535 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21602,essv23169 M 271 0 0 "" NA10831,NA12155 nsv831308 8 47610135 47803951 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447052,nssv1447053 M 95 2 0 "" nsv818621 8 47635787 47654762 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415667,nssv1418083,nssv1415668,nssv1416170,nssv1415666 M 112 5 0 "" NA10835,NA11881,NA12248,NA12249,NA12892 nsv512046 8 47637085 47645212 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624596 S 1 0 1 "" 1 nsv8335 8 47637780 47688117 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17979,nssv17164,nssv18278 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA12155,NA12740 esv28514 8 47643059 47682377 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19425,esv11392,esv10945 M 451 5 21 "" NA06985,NA07037,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12776,NA12878,NA15510,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240 esv992170 8 47643995 47653072 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563688 S 3 1 0 "" HuRef esv2421990 8 47644741 47655711 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5123182,essv5152248,essv5146245,essv5050736,essv5023160,essv5153021,essv5098306,essv5092937,essv5144347,essv5052448,essv5133278,essv5111972,essv5109940,essv5140973,essv5041030,essv5083845,essv5034566,essv5100573,essv5138129,essv5105281,essv5077704,essv5155022,essv5142933,essv5008113,essv5008521,essv5112073,essv5081328,essv5030973,essv5073995,essv5142259,essv5009558,essv5082080,essv5099033,essv5036065,essv5036347,essv5063071,essv5115935,essv5045663,essv5087464,essv5047605,essv5150201,essv5009885,essv5019915,essv5085102,essv5026263,essv5025755,essv5092791,essv5018893,essv5058457,essv5136669,essv5127561,essv5109230,essv5077401,essv5122180,essv5032600,essv5050721,essv5081262,essv5148443,essv5122964,essv5002669,essv5031704,essv5051420,essv5018861,essv5004888,essv5133400,essv5157843,essv5082057,essv5090403,essv5128760,essv5044242,essv5054123,essv5092262,essv5098324,essv5002193,essv5046490,essv5137402,essv5010167,essv5059635,essv5110111,essv5068368,essv5008946,essv5003348,essv5156570,essv5028154,essv5089338,essv5061939,essv5083438,essv5119049,essv5118978,essv5086638,essv5059287,essv5095687,essv5009470,essv5088674,essv5060436,essv5006793,essv5055876,essv5048590,essv5097942,essv5125578,essv5029020,essv5159817,essv5149316 M 1184 103 0 "" NA06991,NA07347,NA10831,NA10835,NA10838,NA10839,NA10846,NA10859,NA11829,NA11881,NA11882,NA11893,NA11917,NA11920,NA12003,NA12005,NA12006,NA12144,NA12155,NA12156,NA12248,NA12249,NA12273,NA12375,NA12739,NA12740,NA12748,NA12751,NA12752,NA12761,NA12827,NA12830,NA12878,NA12892,NA19651,NA19652,NA19653,NA19661,NA19662,NA19677,NA19679,NA19685,NA19686,NA19746,NA19748,NA19774,NA19775,NA19795,NA20332,NA20336,NA20337,NA20344,NA20509,NA20510,NA20519,NA20527,NA20530,NA20531,NA20540,NA20588,NA20752,NA20761,NA20787,NA20797,NA20800,NA20804,NA20806,NA20807,NA20808,NA20810,NA20812,NA20818,NA20819,NA20874,NA20879,NA20908,NA21088,NA21101,NA21108,NA21116,NA21125,NA21336,NA21363,NA21378,NA21381,NA21383,NA21415,NA21440,NA21442,NA21453,NA21455,NA21491,NA21512,NA21514,NA21517,NA21529,NA21587,NA21619,NA21620,NA21650,NA21717,NA21722,NA21784 esv33020 8 47645876 47658735 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93660,essv97223 M 51 2 0 "" 21972,22075 nsv442513 8 47646713 47655709 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818623 8 47647579 47654762 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418084,nssv1418085,nssv1417915,nssv1417904,nssv1415971,nssv1415973 M 112 6 0 "" NA06985,NA06991,NA10859,NA11882,NA12740,NA12751 esv1007902 8 47647825 47681871 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586343 S 3 1 0 "" HuRef nsv6172 8 47647930 47652053 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3645 S 9 1 0 "" NA12878 nsv515084 8 47649204 47655700 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627956 S 1414 1 0 "" essv25065 8 47649547 47684445 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12892 nsv6173 8 47707695 47720937 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8485 S 9 0 1 "" NA12156 nsv6174 8 47715564 47737784 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3646 S 9 1 0 "" NA12878 esv26239 8 47808328 47923812 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18993,esv18001,esv14608,esv17039,esv20376,esv16538,esv10091,esv13096,esv12681,esv14844,esv9834 M 451 1 15 LINC00293 NA12156,NA12239,NA12287,NA12489,NA12776,NA12878,NA15510,NA18508,NA18858,NA18861,NA18909,NA18916,NA19108,NA19147,NA19225,NA19240 esv998438 8 47808990 47812734 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586392 S 3 1 0 "" HuRef esv1002170 8 47844689 47857804 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586658 S 3 1 0 "" HuRef nsv512047 8 47861577 47869372 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624597 S 1 0 1 "" 1 esv988312 8 47869804 47895418 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586084 S 3 1 0 LINC00293 HuRef nsv6175 8 47875213 47904196 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10618 S 9 1 0 LINC00293 NA18956 esv1003277 8 47911849 47923937 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586680 S 3 1 0 "" HuRef esv2124192 8 47931298 47931724 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982686 S 1 0 1 "" NA18507 nsv6177 8 47959526 48004032 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1734 S 9 0 1 "" NA18555 esv1928723 8 47999218 47999711 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796413 S 1 0 1 "" NA18507 esv4798 8 47999372 47999603 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27239 S 1 0 1 Single Asian sample YH "" YH esv1257681 8 48019790 48019790 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763630 S 2 1 0 "" HuRef nsv890847 8 48057115 48244020 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550424 S 6533 1 0 LOC100287846 MS18431 nsv6178 8 48178266 48199214 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv728 S 9 0 1 "" NA19240 nsv499775 8 48185224 48191648 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586082 S 9 0 1 "" esv25749 8 48313929 48317984 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12309 S 451 0 1 "" NA19108 nsv7416 8 48340588 48432534 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3647,nssv9747,nssv10619,nssv9459,nssv5085,nssv6220,nssv1736 M 9 0 0 KIAA0146 NA12156,NA12878,NA18507,NA18517,NA18555,NA18956,NA19129 essv21712 8 48343375 48554996 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. KIAA0146 NA12248 nsv510981 8 48369506 48399560 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624325,nssv622387,nssv621608 M 4 0 0 KIAA0146 NA10860,NA15510,NA18994 esv1006968 8 48376139 48394007 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564169 S 3 0 0 KIAA0146 HuRef nsv513683 8 48376435 48392438 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626935 S 1 0 0 KIAA0146 1 dgv129n16 8 48376574 48395351 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436713,nsv436681 M 2 0 0 KIAA0146 NA18505 dgv57n47 8 48376597 48394348 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499638,nsv499709,nsv499822 M 9 0 0 KIAA0146 esv1505928 8 48377484 48388781 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641514 S 2 0 0 KIAA0146 HuRef nsv507461 8 48379204 48385204 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617767 S 4 1 0 KIAA0146 CHM nsv510145 8 48385621 48391621 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618290 S 4 0 1 KIAA0146 CHM esv32677 8 48429387 48430698 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93642 S 51 0 1 KIAA0146 21972 nsv470211 8 48497858 48708514 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546729 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA0146 HGDP00613 nsv525063 8 48504523 48554848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701115 S 2026 0 1 KIAA0146 nsv890848 8 48515811 48698175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550425 S 6533 1 0 KIAA0146 MS18431 esv273475 8 48683008 48683325 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580885,essv2579741 M 7 2 0 Samples from several populations that are part of the HapMap project. KIAA0146 NA19238,NA19240 esv270100 8 48683011 48683228 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500997,essv2513300,essv2507385,essv2501482,essv2510927,essv2498852,essv2511947,essv2498094 M 157 8 0 Samples from several populations that are part of the HapMap project. KIAA0146 NA18856,NA18907,NA18912,NA19093,NA19116,NA19138,NA19238,NA19240 nsv890849 8 48806890 48833847 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518151 S 6533 0 1 CEBPD,KIAA0146 SP57469 esv2548142 8 48838473 48839181 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202021 S 1 1 0 "" NA18507 nsv512954 8 48838672 48839197 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625606 S 1 1 0 "" 1 esv1041991 8 48839130 48839130 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627162 S 2 1 0 "" HuRef dgv2234e1 8 48950846 49170567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16629,essv14185 M 271 0 0 MCM4,PRKDC,UBE2V2 NA19140,NA19142 nsv6179 8 48957732 48979848 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8486 S 9 0 1 PRKDC NA12156 nsv8337 8 48976779 48980097 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20033 S 31 1 0 Samples from several populations that are part of the HapMap project. PRKDC NA18972 nsv831309 8 48977843 49140409 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447054 S 95 0 1 MCM4,PRKDC,UBE2V2 nsv6180 8 48997304 49030117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6221 S 9 1 0 PRKDC NA12156 nsv8338 8 49079497 49084910 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20324,nssv19641,nssv17586,nssv20063,nssv15521,nssv17433,nssv19633,nssv18691,nssv17598,nssv18308,nssv18009,nssv16584,nssv16982 M 31 10 3 Samples from several populations that are part of the HapMap project. UBE2V2 NA07029,NA07048,NA10863,NA12155,NA12740,NA12872,NA18504,NA18517,NA18564,NA18860,NA18972,NA18975,NA19240 dgv7784n71 8 49116696 49193635 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890853,nsv890850,nsv890851,nsv890852 M 6533 31 0 UBE2V2 IS31144,MS10115,MS10778,MS11337,MS12138,MS13019,MS13241,MS15220,MS15877,MS16074,MS16122,MS16137,MS16242,MS17385,MS18028,MS18211,MS20681,MS21677,MS23147,MS23701,MS23713,MS23958,MS24080,MS24622,MS24749,MS24951,MS25868,SP50099,SP50134,SP56631,SP80953 nsv398353 8 49184373 49186016 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416931 M 24 "" esv270147 8 49185993 49186078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514216 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv396443 8 49200502 49200657 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415021 M 24 "" esv273967 8 49208005 49208351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581020,essv2578921,essv2579778 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270657 8 49208016 49208353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575804,essv2521246,essv2545608,essv2523272,essv2577392,essv2521708,essv2576580,essv2564376,essv2577764,essv2553725,essv2559643,essv2520942,essv2557371,essv2557028,essv2552631,essv2551760,essv2532344,essv2569465,essv2578752,essv2550080,essv2537162,essv2539168,essv2569701,essv2544907,essv2562808,essv2552932,essv2542832,essv2534697,essv2522134,essv2565996,essv2532465,essv2559178,essv2566814,essv2542185,essv2568950,essv2556138,essv2527742,essv2562163,essv2539477,essv2533847,essv2527633,essv2543297,essv2571931,essv2527019,essv2529729,essv2575538,essv2575096,essv2538586,essv2560601,essv2524030,essv2574807,essv2530290,essv2568584,essv2545096,essv2549826,essv2571238,essv2545749,essv2574256,essv2554361 M 157 59 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11830,NA11894,NA12003,NA12004,NA12043,NA12144,NA12154,NA12751,NA12761,NA12763,NA12776,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18526,NA18532,NA18542,NA18550,NA18561,NA18571,NA18572,NA18576,NA18638,NA18853,NA18856,NA18861,NA18871,NA18907,NA18909,NA18912,NA18916,NA18952,NA18965,NA18973,NA19005,NA19093,NA19099,NA19102,NA19108,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240 dgv91n68 8 49242730 49452762 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH nsv831310,nsv831311 M 95 14 0 "" esv2606849 8 49248971 49249287 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191194 S 1 1 0 "" NA18507 dgv1181n67 8 49255282 49256402 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824619,nsv824618 M 31 4 0 "" AK2,AK4,AK8,NA18969 esv22919 8 49255539 49256514 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21261,esv12953 M 451 9 0 "" NA11995,NA12414,NA15510,NA18508,NA18523,NA18858,NA18909,NA19147,NA19190 nsv819150 8 49255691 49258280 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419450 S 2 1 0 "" AK1 nsv824621 8 49255776 49256402 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424342,nssv1437561,nssv1427927,nssv1423551,nssv1434063,nssv1435977,nssv1421847,nssv1429945,nssv1430703,nssv1438952,nssv1434528,nssv1433770,nssv1439793,nssv1431444,nssv1429203,nssv1432989,nssv1438272,nssv1432182,nssv1428431,nssv1435217,nssv1436786,nssv1426814,nssv1440466,nssv1441085,nssv1422725 M 31 25 0 "" AK10,AK12,AK14,AK16,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18972,NA18973,NA18997,NA18999 nsv821514 8 49255776 49256514 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420762 S 1 0 1 "" NA10851 esv27881 8 49280774 49329538 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16816 S 451 1 0 "" NA19257 esv269428 8 49468106 49468191 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516546 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 esv271214 8 49775437 49775648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506768,essv2513174,essv2503374,essv2508511,essv2503799,essv2511339,essv2499316,essv2512329,essv2495768,essv2504351 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA11918,NA12249,NA12716,NA12717,NA12761,NA18570,NA18605,NA18949 esv2615769 8 49804167 49805610 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300192 S 1 0 1 EFCAB1 NA18507 nsv526887 8 49887252 49891573 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703245 S 2026 0 1 "" nsv890854 8 49901374 50001461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572352 S 6533 1 0 SNAI2 IS32998 nsv528067 8 49932007 49942500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704603 S 2026 0 1 "" nsv6181 8 50047895 50093067 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5086 S 9 0 1 "" NA19129 esv25229 8 50171347 50171897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17024 S 451 0 4 "" NA07037,NA07045,NA11931,NA12878 esv2398826 8 50171567 50172057 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902253 S 1 0 1 "" NA18507 esv4450 8 50171710 50172065 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26891 S 1 0 1 Single Asian sample YH "" YH nsv6182 8 50218658 50253482 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv729 S 9 1 0 "" NA19240 nsv890855 8 50271918 50415515 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550426 S 6533 1 0 "" MS18431 nsv819662 8 50278299 50285424 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419807 S 2 0 1 "" AK1 nsv890856 8 50296038 50435050 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555244,nssv1596752 M 6533 0 2 "" IS40627,MS21249 dgv7785n71 8 50296038 50695488 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890858,nsv890857 M 6533 0 2 "" IS38207,MS19277 nsv510146 8 50302028 50308028 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621335,nssv624065,nssv622161,nssv618291 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv274210 8 50310139 50310448 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581832,essv2582835 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv396113 8 50363227 50365552 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414691 M 24 "" nsv890859 8 50415911 50521666 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599959 S 6533 0 1 "" IS41819 esv1049199 8 50492751 50492806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239710 S 2 0 1 "" HuRef esv29377 8 50493484 50511021 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10115 S 451 1 0 "" NA19257 esv269091 8 50556285 50556513 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496477,essv2498627,essv2513516,essv2498735,essv2512171 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18858,NA18907,NA19138,NA19238 esv272864 8 50556329 50556617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580992 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv890860 8 50565824 50683405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584629 S 6533 0 1 "" IS37098 dgv2235e1 8 50577786 50710060 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1067,essv3935 M 271 0 0 "" NA18970,NA18990 dgv251e55 8 50577800 50710060 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34838,esv34784,esv34964 M 771 3 0 "" NA18570,NA18970,NA18990 dgv2236e1 8 50578416 50757620 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7362,essv5070 M 271 0 0 "" NA18570 dgv2237e1 8 50578416 50819905 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2592,essv3995 M 271 0 0 "" NA18970,NA18990 dgv7786n71 8 50578819 50705218 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890861,nsv890862,nsv890864 M 6533 6 0 "" MS11431,SP54090,SP55028,SP56100,SP81339,SP81498 nsv890863 8 50593309 50801846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536979 S 6533 0 1 "" MS13048 nsv824622 8 50593775 50704356 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434529 S 31 1 0 "" NA18570 nsv397980 8 50611627 50611719 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416558 M 24 "" nsv396971 8 50611835 50611938 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415549 M 24 "" dgv7787n71 8 50618882 50695488 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890865,nsv890866 M 6533 0 3 "" IS31054,IS35100,IS35911 nsv442515 8 50622571 50695376 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515085 8 50622796 50685796 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627957 S 1414 1 0 "" dgv7788n71 8 50632317 50705218 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890868,nsv890867 M 6533 2 0 "" SP53895,SP56377 nsv890869 8 50632317 50721292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567203 S 6533 0 1 "" IS31046 nsv890870 8 50644185 50698861 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598425 S 6533 0 1 "" IS41317 esv1993699 8 50685846 50686240 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4707954 S 1 0 1 "" NA18507 nsv824623 8 50686656 50691882 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432183 S 31 1 0 "" AK20 esv2591439 8 50690689 50698357 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229895 S 1 0 1 "" NA18507 esv2576793 8 50690755 50697647 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174802 S 1 0 1 "" NA18507 esv1997943 8 50691389 50697314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793045 S 1 0 1 "" NA18507 esv272194 8 50712884 50713183 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580571,essv2579120,essv2579414 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv271045 8 50712898 50713135 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525859,essv2556810,essv2521515,essv2520534,essv2577865,essv2557004,essv2552491,essv2551905,essv2562569,essv2550242,essv2539194,essv2527204,essv2561385,essv2549566,essv2568903,essv2534030,essv2531299,essv2526738,essv2529767,essv2538695,essv2526643,essv2524042,essv2574645,essv2572752,essv2545165,essv2571333,essv2546042,essv2574521,essv2551434,essv2547732,essv2563183 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11918,NA11994,NA12144,NA12716,NA12761,NA18501,NA18502,NA18504,NA18507,NA18511,NA18519,NA18522,NA18523,NA18564,NA18861,NA18916,NA18961,NA19005,NA19093,NA19108,NA19114,NA19129,NA19138,NA19143,NA19172,NA19238,NA19239,NA19240,NA19257 nsv6183 8 50787027 50793325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3649 S 9 1 0 "" NA12878 esv1001205 8 50787789 50788516 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565501 S 3 1 0 "" HuRef esv1485089 8 50788517 50788517 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4252263 S 2 1 0 "" HuRef esv2495143 8 50842742 50843746 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370066 S 1 1 0 "" NA18507 nsv507462 8 50894569 50900569 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623042,nssv621915,nssv620415 M 4 3 0 "" NA10860,NA15510,NA18994 esv34788 8 51035800 51127991 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978411,essv6978410 M 771 0 1 SNTG1 NA19093 essv8403 8 51035846 51131495 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNTG1 NA19093 nsv818624 8 51045383 51107628 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418295 S 112 0 1 SNTG1 NA19093 essv14613 8 51049146 51223381 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNTG1 NA19093 essv376 8 51049146 51300548 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNTG1 NA18971 nsv890871 8 51098727 51202575 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550427 S 6533 1 0 SNTG1 MS18431 nsv890872 8 51109255 51195366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556431 S 6533 0 1 SNTG1 MS22008 nsv6184 8 51160078 51222985 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1737,nssv11184,nssv8487 M 9 0 3 SNTG1 NA12156,NA15510,NA18555 nsv508509 8 51184390 51203941 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620010 S 4 0 1 SNTG1 NA15510 nsv26 8 51190334 51207434 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv26 S 1 0 1 SNTG1 NA15510 nsv437619 8 51191924 51202265 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467500 S 60 0 1 Samples from several populations that are part of the HapMap project. SNTG1 NA19202 esv1008187 8 51192694 51201853 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564709 S 3 0 1 SNTG1 HuRef esv2475988 8 51192842 51201421 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293327 S 1 0 1 SNTG1 NA18507 nsv8339 8 51193335 51201438 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21240,nssv17497,nssv17878,nssv16129,nssv16325,nssv17463,nssv16614,nssv17616 M 31 0 8 Samples from several populations that are part of the HapMap project. SNTG1 NA07048,NA10847,NA10863,NA11830,NA18572,NA18975,NA19144,NA19221 esv2246196 8 51193473 51201041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772685 S 1 0 1 SNTG1 NA18507 esv2503933 8 51193533 51201577 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268494 S 1 0 1 SNTG1 NA18507 nsv824624 8 51193556 51200872 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429946,nssv1427611,nssv1441190,nssv1429204,nssv1425107,nssv1426815,nssv1436787,nssv1427518 M 31 0 8 SNTG1 AK12,AK14,AK2,AK6,AK8,NA18542,NA18968,NA18969 esv3328 8 51193582 51201086 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25769 S 1 0 1 Single Asian sample YH SNTG1 YH esv6927 8 51193639 51200882 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29368 S 1 0 1 SNTG1 SJK nsv499111 8 51193644 51200883 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586083 S 9 0 1 SNTG1 esv22898 8 51193665 51200888 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11512 S 451 0 7 SNTG1 NA12004,NA12044,NA12156,NA12287,NA12489,NA15510,NA19108 nsv515086 8 51193740 51200896 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627960 S 1414 0 1 SNTG1 nsv433494 8 51193774 51196070 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463375 S 9 0 1 SNTG1 NA15510 nsv442516 8 51194577 51195974 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SNTG1 nsv438053 8 51194778 51196571 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469971,nssv469972 M 269 0 2 Samples from several populations that are part of the HapMap project. SNTG1 NA19201,NA19202 nsv8340 8 51248117 51249683 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19663 S 31 1 0 Samples from several populations that are part of the HapMap project. SNTG1 NA18504 nsv8341 8 51286464 51293400 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19062 S 31 0 1 Samples from several populations that are part of the HapMap project. SNTG1 NA18502 nsv524203 8 51323785 51351228 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700089 S 2026 1 0 SNTG1 nsv470212 8 51339188 51390059 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546730 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SNTG1 HGDP01303 esv24787 8 51345445 51358248 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12937 S 451 3 0 SNTG1 NA11995,NA12414,NA12828 nsv522665 8 51349159 51351228 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706067 S 2026 1 0 SNTG1 nsv507463 8 51360175 51366175 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623043 S 4 1 0 SNTG1 NA18994 nsv6185 8 51376201 51399749 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1738 S 9 0 1 SNTG1 NA18555 esv2437712 8 51386936 51391682 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210301 S 1 0 1 SNTG1 NA18507 esv2077062 8 51387361 51391037 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963236 S 1 0 1 SNTG1 NA18507 esv2593415 8 51387401 51391478 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367014 S 1 0 1 SNTG1 NA18507 dgv1182n67 8 51387430 51390900 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824627,nsv824626,nsv824625 M 31 0 6 SNTG1 AK12,AK14,AK8,NA18542,NA18570,NA18968 esv4199 8 51387501 51390944 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26640 S 1 0 1 Single Asian sample YH SNTG1 YH nsv515087 8 51387516 51390848 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627961 S 1414 0 1 SNTG1 nsv499696 8 51387535 51390871 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586084 S 9 0 1 SNTG1 esv5640 8 51387539 51390872 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28081 S 1 0 1 SNTG1 SJK esv22552 8 51387568 51390822 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12849 S 451 0 4 SNTG1 NA15510,NA18861,NA18909,NA19108 nsv517030 8 51389781 51390059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653531,nssv663593,nssv666229,nssv670110,nssv656559,nssv664962,nssv686731,nssv666913,nssv676398,nssv674040,nssv682009,nssv672122,nssv691785,nssv682580,nssv673728,nssv677114,nssv675518,nssv684176,nssv656989,nssv659163,nssv663269,nssv655801,nssv665468,nssv692136,nssv672909,nssv689410,nssv657631,nssv652569,nssv693178,nssv654582,nssv679456,nssv673442,nssv677165,nssv685767,nssv667333,nssv662226,nssv690583,nssv690057,nssv683636,nssv675782,nssv677043,nssv668297,nssv666426,nssv658239,nssv681180 M 2026 0 45 SNTG1 nsv831312 8 51402325 51585397 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447071,nssv1447075,nssv1447070 M 95 3 0 SNTG1 dgv457n21 8 51418991 51419119 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522554,nsv526909 M 2026 0 2 SNTG1 nsv525765 8 51432067 51447054 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701933 S 2026 0 1 SNTG1 esv2521416 8 51511156 51512693 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167922 S 1 0 1 SNTG1 NA18507 nsv520800 8 51528506 51534463 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675574,nssv693121 M 2026 0 2 SNTG1 esv270406 8 51555356 51555664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576047,essv2544184,essv2562861,essv2542607,essv2539717,essv2531097,essv2532456,essv2559224,essv2533464,essv2525613,essv2547986,essv2563338 M 157 12 0 Samples from several populations that are part of the HapMap project. SNTG1 NA07347,NA10847,NA11830,NA11992,NA18532,NA18550,NA18563,NA18573,NA18576,NA18638,NA18944,NA18980 esv271575 8 51604978 51605316 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495238,essv2508725,essv2494549,essv2504575,essv2500127,essv2507703,essv2507500,essv2511603,essv2511156,essv2500573,essv2503622,essv2504398,essv2513064 M 157 13 0 Samples from several populations that are part of the HapMap project. SNTG1 NA06986,NA07347,NA10847,NA11992,NA18532,NA18550,NA18563,NA18573,NA18576,NA18638,NA18940,NA18944,NA18956 nsv890873 8 51624716 51775194 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550428 S 6533 1 0 SNTG1 MS18431 esv1715309 8 51645360 51645360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862845 S 2 1 0 SNTG1 HuRef nsv522428 8 51670112 51681799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705782 S 2026 1 0 SNTG1 esv25991 8 51718540 51720830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20833 S 451 0 3 SNTG1 NA15510,NA18907,NA19190 esv2122954 8 51720084 51720479 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4923873 S 1 0 1 SNTG1 NA18507 esv2122452 8 51809684 51810107 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757579 S 1 0 1 SNTG1 NA18507 dgv7789n71 8 51843584 51943314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890875,nsv890874 M 6533 0 2 SNTG1 MS15199,MS18978 nsv890876 8 51888207 51943314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581759,nssv1583532,nssv1598214 M 6533 0 3 "" IS35717,IS36527,IS41043 nsv521625 8 51895895 51922963 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698244 S 2026 0 1 "" nsv890877 8 51895895 52109380 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550429 S 6533 1 0 "" MS18431 dgv7790n71 8 51899706 51959009 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890883,nsv890878 M 6533 0 2 "" IS31419,IS35145 dgv7791n71 8 51899706 52046480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890879,nsv890884,nsv890880 M 6533 0 3 "" IS32166,IS35083,IS41317 dgv7792n71 8 51899706 52109380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890881,nsv890882,nsv890885 M 6533 0 4 "" IS36131,IS41964,MS21356,SP57367 esv34807 8 51900540 52046000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986726,essv6978849,essv6978850 M 771 1 0 "" NA12740 nsv6186 8 51901322 51935650 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2787 S 9 1 0 "" NA18555 essv101802 8 51907414 51942004 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. "" NA12750 dgv2238e1 8 51912593 52045960 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19471,essv23711 M 271 0 0 "" NA12740,NA12750 nsv8342 8 51921580 52047444 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19122,nssv16644,nssv18039,nssv20123 M 31 1 3 Samples from several populations that are part of the HapMap project. "" NA12740,NA18502,NA18972,NA18975 nsv818625 8 51922963 52046480 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415974,nssv1415975 M 112 2 0 "" NA12740,NA12750 nsv890886 8 51964608 52109380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600842 S 6533 0 1 "" IS41933 dgv7793n71 8 51979283 52109380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890889,nsv890891,nsv890887,nsv890892,nsv890890 M 6533 0 33 "" IS30141,IS30143,IS30147,IS30171,IS30238,IS30398,IS30409,IS34358,IS34440,IS34737,IS34805,IS35492,IS35605,IS35701,IS35952,IS36992,IS37293,IS38006,IS38207,IS40627,IS41581,IS41771,IS41774,IS41848,IS41922,IS41968,IS41971,MS19721,MS20030,MS20286,MS20359,MS22705,MS24073 nsv890888 8 51982847 52046480 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578328 S 6533 0 1 "" IS34758 nsv465679 8 52046480 52352349 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541434 S 1557 1 0 "" 1780862345_A esv273218 8 52059264 52059670 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580433 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12891 esv270974 8 52059319 52059693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500839,essv2503242,essv2500276,essv2512621,essv2494257,essv2506841,essv2503885,essv2511566 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA11830,NA11881,NA12891,NA18489,NA18502,NA19102 nsv890893 8 52116994 52183262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569165 S 6533 0 1 "" IS31481 nsv890894 8 52144330 52190026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515346 S 6533 0 1 "" SP56172 nsv824628 8 52156190 52158302 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421848 S 31 0 1 "" NA18997 esv3623 8 52186146 52186770 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26064 S 1 0 1 Single Asian sample YH "" YH esv25732 8 52186312 52196426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13664 S 451 0 6 "" NA06985,NA11993,NA12878,NA18907,NA19129,NA19190 esv6397 8 52186314 52186580 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28838 S 1 0 1 "" SJK nsv397869 8 52186317 52186590 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416447 M 24 "" esv7253 8 52190224 52190308 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29694 S 1 1 0 "" SJK esv2593896 8 52223041 52224580 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289292 S 1 0 1 "" NA18507 esv2145360 8 52223365 52224062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4629251 S 1 0 1 "" NA18507 esv3616 8 52223487 52223934 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26057 S 1 0 1 Single Asian sample YH "" YH esv2437635 8 52223560 52223870 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228340 S 1 0 1 "" NA18507 nsv398054 8 52223563 52223873 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416632 M 24 "" esv6874 8 52223565 52223866 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29315 S 1 0 1 "" SJK nsv6189 8 52308387 52353685 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8488 S 9 0 1 "" NA12156 nsv890895 8 52353124 52777744 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565709 S 6533 1 0 PXDNL IS30507 nsv6190 8 52413749 52442990 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10621 S 9 1 0 PXDNL NA18956 nsv817615 8 52414958 53185937 CNV Gain Forsberg_et_al_2012 22305530 SNP_array Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) + Illumina Human660W Quad v1 + Illumina Human660W-Quad v1.0 BeadChip + Illumina Human1M Duo v3 + Illumina Human1M-Duov3 DNA Analysis BeadChip (Human1M-Duov3_B) + Illumina Human660W-Quad v1.0 BeadChip nssv1415559 S 6 1 0 PCMTD1,PXDNL 102,GEO:GSM849756 esv1005621 8 52490027 52495406 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564042 S 3 0 1 PXDNL HuRef esv2496359 8 52529420 52530858 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199138 S 1 0 1 PXDNL NA18507 esv2236053 8 52529868 52530449 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671604 S 1 0 1 PXDNL NA18507 nsv890896 8 52590614 52617274 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501935 S 6533 0 1 PXDNL SP50826 nsv831313 8 52621388 52801521 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447078,nssv1447077,nssv1447076 M 95 0 3 PXDNL nsv516548 8 52656134 52678723 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688379,nssv686045,nssv675137,nssv669080 M 2026 4 0 PXDNL nsv890897 8 52659731 52688107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515669 S 6533 0 1 PXDNL SP56238 nsv398056 8 52682867 52683863 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416634 M 24 PXDNL nsv890898 8 52742517 52843486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579847 S 6533 0 1 PXDNL IS35181 esv2528133 8 52747629 52748881 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233126 S 1 0 1 PXDNL NA18507 esv2555190 8 52771552 52772573 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219736 S 1 1 0 PXDNL NA18507 esv1455278 8 52771983 52771983 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075987 S 2 1 0 PXDNL HuRef nsv6191 8 52804712 52826998 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5087 S 9 1 0 PXDNL NA19129 nsv824629 8 52822756 52824466 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426817 S 31 0 1 PXDNL AK6 nsv831316 8 52822906 53005481 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447079 S 95 1 0 PCMTD1,PXDNL nsv509265 8 52846516 52880480 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623537 S 4 1 0 PXDNL NA18994 esv998610 8 52865911 52866336 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564695 S 3 1 0 PXDNL HuRef esv1518773 8 52865927 52865927 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721671 S 2 1 0 PXDNL HuRef nsv824630 8 52892689 52893399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426819 S 31 0 1 PCMTD1 AK6 nsv824632 8 52893456 52895489 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441191 S 31 1 0 PCMTD1 NA18969 esv1000050 8 52900118 52900504 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563944 S 3 0 1 PCMTD1 HuRef esv1338407 8 52900526 52900849 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923893 S 2 0 1 PCMTD1 HuRef nsv526922 8 52935068 52949344 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703286 S 2026 0 1 PCMTD1 nsv520947 8 53050094 53078547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697703 S 2026 0 1 "" nsv507464 8 53069655 53075655 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623044,nssv617768,nssv620416 M 4 3 0 "" CHM,NA15510,NA18994 nsv890899 8 53086648 53127075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550430 S 6533 1 0 "" MS18431 esv8043 8 53172587 53172668 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30484 S 1 1 0 "" SJK esv270428 8 53335540 53335731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493314,essv2504060,essv2502999,essv2509755,essv2509006,essv2507383,essv2504738,essv2506957,essv2510438 M 157 9 0 Samples from several populations that are part of the HapMap project. ST18 NA18504,NA18505,NA18507,NA18508,NA18522,NA18912,NA19099,NA19102,NA19172 esv2636600 8 53350611 53351570 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393801 S 1 1 0 ST18 NA18507 nsv831317 8 53408474 53575828 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447080 S 95 1 0 ST18 dgv7794n71 8 53427773 53690757 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890901,nsv890900 M 6533 2 0 FAM150A,ST18 MS19721,SP53154 nsv890902 8 53493135 54112113 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520836 S 6533 1 0 FAM150A,NPBWR1,RB1CC1 SP51264 nsv890903 8 53505169 53690757 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580707 S 6533 1 0 FAM150A IS35436 nsv507465 8 53547662 53553662 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621916 S 4 1 0 "" NA10860 dgv7795n71 8 53550992 53931204 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890905,nsv890904 M 6533 2 0 FAM150A,RB1CC1 IS37605,MS19454 nsv525936 8 53555854 53560664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702142 S 2026 0 1 "" esv259657 8 53560718 53561478 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394203,essv2393912,essv2393781,essv2394061 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239 esv259721 8 53560734 53561491 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398085,essv2397359,essv2401082,essv2396971,essv2397822,essv2395536,essv2395728,essv2394906,essv2396205,essv2400804,essv2399675,essv2397070 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12144,NA12878,NA12891,NA12892,NA18505,NA18593,NA18853,NA18942,NA18944,NA18952,NA19210,NA19239 nsv890906 8 53570987 53653712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584477 S 6533 1 0 FAM150A IS37043 nsv890907 8 53570987 53690757 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559937 S 6533 1 0 FAM150A MS24223 nsv465680 8 53579504 53668308 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541435 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM150A HGDP00582 nsv470213 8 53579504 53668308 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546731 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM150A HGDP00582 nsv521443 8 53656824 53661751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698054 S 2026 0 1 "" nsv831318 8 53701152 53886240 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447081 S 95 0 1 RB1CC1 nsv890908 8 53767995 54135733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553096 S 6533 1 0 NPBWR1,RB1CC1 MS19721 nsv526722 8 53816100 53908391 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703062 S 2026 1 0 "" essv1731 8 53823346 54105603 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. NPBWR1 NA18997 esv1052882 8 53855256 53855589 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332030 S 2 0 1 "" HuRef nsv511394 8 53861231 53866053 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626001 S 1 0 1 "" 1 nsv512048 8 53862826 53865725 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624598 S 1 0 1 "" 1 esv2544939 8 53862856 53864793 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219791 S 1 0 1 "" NA18507 esv2045717 8 53863341 53864363 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695047 S 1 0 1 "" NA18507 esv25489 8 53863532 53864180 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9927 S 451 0 4 "" NA07045,NA18861,NA18909,NA19190 nsv521012 8 53867668 53868361 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697735 S 2026 0 1 "" nsv890909 8 53877111 53931204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582215 S 6533 1 0 "" IS35853 nsv525618 8 53890131 53917714 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701763 S 2026 1 0 "" nsv890910 8 53890131 53963638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560098 S 6533 1 0 "" MS24328 essv1561 8 53897210 54039563 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. NPBWR1 NA18997 nsv824633 8 53902524 54028882 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421849 S 31 1 0 NPBWR1 NA18997 nsv523753 8 53908391 53911329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699571 S 2026 0 1 "" esv35145 8 53908391 53996124 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978288,essv6978289,essv6990218 M 771 1 0 "" NA18997 nsv890911 8 53950884 54042607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581403 S 6533 0 1 NPBWR1 IS35572 esv270495 8 53953563 53953699 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510175,essv2503182,essv2506808,essv2504430,essv2505145,essv2499485,essv2513181,essv2503412,essv2508513,essv2502572,essv2503810,essv2493337,essv2508887,essv2500264,essv2498333,essv2508724,essv2500456,essv2497261,essv2512979,essv2497174,essv2497807,essv2499989,essv2508324,essv2504531,essv2507841,essv2506325,essv2508215,essv2508607,essv2499308,essv2501539,essv2512882,essv2511670,essv2504928,essv2503129,essv2497900,essv2503562,essv2512282,essv2493130,essv2509371,essv2500574,essv2503720,essv2496012,essv2495148,essv2502698,essv2500753,essv2502247,essv2503985,essv2499558 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10851,NA11881,NA11918,NA11993,NA11995,NA12044,NA12249,NA12716,NA12717,NA12750,NA12761,NA12776,NA12878,NA12891,NA18526,NA18532,NA18537,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18579,NA18592,NA18605,NA18608,NA18609,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18951,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA18973,NA19257 esv273909 8 53953572 53953665 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580132,essv2580485 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv890912 8 53991756 54037306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567882 S 6533 0 1 NPBWR1 IS31169 dgv7796n71 8 53991756 54047596 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890915,nsv890914,nsv890913,nsv890916 M 6533 0 7 NPBWR1 IS32150,IS33684,IS33797,IS33839,IS34407,IS39233,IS41634 nsv516933 8 53997047 53998088 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661919,nssv655051 M 2026 2 0 "" nsv525238 8 53997047 54104226 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701328 S 2026 1 0 NPBWR1 nsv8343 8 54001673 54003346 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21270,nssv17493,nssv17527,nssv20153,nssv17185,nssv16159,nssv19617,nssv18721,nssv19693,nssv18149,nssv17646,nssv16970 M 31 0 12 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA11830,NA18504,NA18572,NA18853,NA18972,NA18980,NA19132,NA19173,NA19221,NA19240 nsv8344 8 54013425 54017062 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20183 S 31 0 1 Samples from several populations that are part of the HapMap project. NPBWR1 NA18972 nsv6192 8 54028743 54072770 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8490 S 9 0 1 "" NA12156 dgv887n27 8 54037306 54080020 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465684,nsv465682 M 1557 2 0 "" 1780862530_A,HGDP01375 nsv8345 8 54043738 54060425 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21300 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv25988 8 54059188 54059754 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15268 S 451 0 1 "" NA12776 dgv7797n71 8 54061570 54108723 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890917,nsv890918 M 6533 0 2 "" MS11703,MS19941 nsv437620 8 54089687 54152959 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467501 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 essv12081 8 54090134 54163645 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19099 dgv2239e1 8 54102064 54153567 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8545,essv9967,essv15186 M 271 0 0 "" NA18503,NA18504,NA19204 nsv8346 8 54112932 54158499 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19723 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv442107 8 54122300 54154739 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv28127 8 54124432 54155308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11759 S 451 0 1 "" NA19099 nsv519261 8 54132195 54180766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685972,nssv655108,nssv671410,nssv686122,nssv680105,nssv660746,nssv658273,nssv658649 M 2026 0 8 "" esv271297 8 54260913 54261020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512484,essv2500984,essv2513292,essv2507297,essv2501461,essv2498864,essv2497466 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18856,NA18907,NA18912,NA19093,NA19138,NA19147 esv8732 8 54285099 54286202 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31173 S 1 0 1 "" SJK esv28674 8 54285133 54286183 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17216 S 451 0 2 "" NA07045,NA19129 nsv824634 8 54285649 54286376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435218,nssv1441096 M 31 0 2 "" NA18547,NA18942 nsv6193 8 54291711 54303676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6223 S 9 1 0 OPRK1 NA12156 esv260063 8 54301615 54301883 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395629,essv2394618,essv2397731,essv2396395,essv2398050 M 144 0 0 Samples from several populations that are part of the HapMap project. OPRK1 NA18501,NA18870,NA18956,NA19138,NA19147 nsv397858 8 54301778 54301778 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416436 M 24 OPRK1 nsv438054 8 54315535 54323911 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469974,nssv469973,nssv469976,nssv469978,nssv469977 M 269 0 5 Samples from several populations that are part of the HapMap project. OPRK1 NA18854,NA18860,NA19100,NA19103,NA19132 nsv6194 8 54317163 54348317 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6224 S 9 1 0 OPRK1 NA12156 nsv512955 8 54327714 54329057 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625607 S 1 1 0 "" 1 esv28877 8 54353477 54358349 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15369,esv19402 M 451 0 2 "" NA11993,NA12749 nsv527486 8 54356785 54372682 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703933 S 2026 0 1 "" esv2597257 8 54366588 54368063 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5356403 S 1 0 1 "" NA18507 esv1933001 8 54367246 54367954 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546629 S 1 0 1 "" NA18507 esv6629 8 54367434 54367750 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29070 S 1 0 1 "" SJK esv2653974 8 54367443 54367758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301889 S 1 0 1 "" NA18507 esv995338 8 54446188 54448066 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565239 S 3 0 1 "" HuRef dgv2240e1 8 54637142 54900026 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7595,essv5337 M 271 0 0 ATP6V1H NA18545,NA18563 nsv509266 8 54648001 54746737 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623538 S 4 1 0 "" NA18994 esv2652360 8 54668939 54669232 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226210 S 1 1 0 "" NA18507 esv25624 8 54672863 54691799 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12044,esv15341 M 451 5 0 "" NA12489,NA12828,NA18502,NA18517,NA19114 nsv890919 8 54683801 54769889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559510 S 6533 0 1 "" MS24010 esv1442952 8 54691292 54691292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935548 S 2 1 0 "" HuRef nsv890920 8 54722323 54789092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564647 S 6533 0 1 "" IS30276 essv22151 8 54995543 55179518 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LYPLA1,RGS20,TCEA1 NA10857 esv2487551 8 55074047 55075512 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175290 S 1 0 1 TCEA1 NA18507 esv2349042 8 55134196 55134901 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607038 S 1 0 1 LYPLA1 NA18507 esv4675 8 55134337 55134839 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27116 S 1 0 1 Single Asian sample YH LYPLA1 YH esv6149 8 55134420 55134744 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28590 S 1 0 1 LYPLA1 SJK dgv7798n71 8 55154000 55214701 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890924,nsv890925,nsv890923,nsv890921 M 6533 0 4 LYPLA1,MRPL15 SP54956,SP54988,SP55021,SP57469 nsv890922 8 55157312 55186047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507603 S 6533 0 1 LYPLA1 SP54725 nsv820132 8 55210316 55210786 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418967 S 2 1 0 MRPL15 AK1 nsv510147 8 55219480 55225480 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618292,nssv622162,nssv624066 M 4 0 3 MRPL15 CHM,NA10860,NA18994 nsv6195 8 55310413 55333231 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8491 S 9 1 0 "" NA12156 esv2626865 8 55353538 55353787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5364071 S 1 0 1 "" NA18507 esv2474104 8 55353551 55353650 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306811 S 1 0 1 "" NA18507 nsv437621 8 55364293 55374945 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467502 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19202 esv2552814 8 55371190 55374587 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258353 S 1 0 1 "" NA18507 nsv818626 8 55371210 55371303 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416456 S 112 1 0 "" NA18516 dgv69n64 8 55371210 55373358 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818627,nsv818628,nsv818629 M 112 0 6 "" NA18515,NA18517,NA18856,NA18857,NA19192,NA19194 nsv517041 8 55371210 55373358 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665642,nssv652849,nssv676190,nssv658650,nssv684059,nssv686174,nssv659624,nssv661702,nssv661920,nssv675039,nssv656829,nssv686854,nssv653350,nssv688782,nssv673103,nssv660808,nssv680727,nssv678085,nssv692341,nssv662066,nssv685973,nssv656817,nssv682530,nssv659317,nssv676438,nssv660747,nssv679106,nssv680926,nssv666914,nssv689278,nssv658082,nssv663594,nssv663913,nssv653542,nssv693950,nssv668693,nssv653227,nssv689227,nssv659791,nssv685218,nssv666577,nssv683606,nssv681865,nssv676457,nssv684203,nssv657330,nssv654583,nssv680785,nssv658036,nssv693673,nssv675783,nssv693417,nssv686886,nssv659584,nssv657518,nssv680865,nssv665003,nssv674518,nssv683719,nssv656560,nssv679015,nssv674813,nssv655109,nssv655700,nssv687657,nssv654741,nssv668395,nssv674843,nssv658274,nssv653069,nssv663140,nssv668868,nssv661343,nssv684416,nssv658466,nssv659646,nssv689530,nssv666840,nssv664327,nssv653559,nssv652546,nssv682916,nssv690807,nssv687236,nssv675287,nssv691135,nssv687879,nssv672277,nssv654026,nssv679885,nssv666087 M 2026 0 91 "" nsv437622 8 55371210 55374945 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467503 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18515 esv2201145 8 55371341 55373870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693562 S 1 0 1 "" NA18507 nsv442517 8 55371599 55373373 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv888n27 8 55371601 55373358 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465686,nsv465685,nsv465687,nsv465688 M 1557 0 4 "" HGDP00199,HGDP00554,HGDP00925,HGDP01276 esv2422160 8 55371601 55373671 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117765,essv5127994,essv5120515,essv5020016,essv5081264,essv5007792,essv5142858,essv5114191,essv5036150,essv5157244,essv5065661,essv5052442,essv5013461,essv5057011,essv5055451,essv5137462,essv5072884,essv5018818,essv5074928,essv5129816,essv5065332,essv5149380,essv5148913,essv5095565,essv5022581,essv5101843,essv5041482,essv5118194,essv5057492,essv5040994,essv5071000,essv5115135,essv5025546,essv5018516,essv5109104,essv5133553,essv5115769,essv5122771,essv5100863,essv5158297,essv5151468,essv5141459,essv5043225,essv5139345,essv5159610,essv5117745,essv5035245,essv5024332,essv5028248,essv5035554,essv5028796,essv5049514,essv5116078,essv5160850,essv5148496,essv5057494,essv5108071,essv5046296,essv5033124,essv5021227,essv5005933,essv5039364,essv5048555,essv5115885,essv5151349,essv5048644,essv5119391,essv5056408,essv5052909,essv5110587,essv5128831,essv5138795,essv5153781,essv5017212,essv5110897,essv5115987,essv5026011,essv5092008,essv5103525,essv5127205,essv5006195,essv5114873,essv5065003,essv5050827,essv5129348,essv5012799,essv5132512,essv5046512,essv5086355,essv5093944,essv5087049,essv5150933,essv5064795,essv5030400,essv5147906,essv5159950,essv5085280,essv5104818,essv5133725,essv5045463,essv5080755,essv5002772,essv5154250,essv5070373,essv5129587,essv5051473,essv5153520,essv5078638,essv5011023,essv5066987,essv5124236,essv5158847,essv5055607,essv5039632,essv5156220,essv5151677,essv5068473,essv5002680,essv5101096 M 1184 0 119 "" NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18517,NA18518,NA18519,NA18520,NA18857,NA18858,NA18859,NA18860,NA18873,NA18875,NA19035,NA19102,NA19103,NA19108,NA19122,NA19128,NA19143,NA19146,NA19148,NA19176,NA19185,NA19186,NA19192,NA19194,NA19197,NA19201,NA19202,NA19210,NA19213,NA19215,NA19236,NA19237,NA19248,NA19249,NA19257,NA19308,NA19310,NA19314,NA19327,NA19346,NA19359,NA19360,NA19373,NA19374,NA19377,NA19383,NA19384,NA19434,NA19437,NA19445,NA19449,NA19457,NA19462,NA19467,NA19474,NA19681,NA19683,NA19701,NA19708,NA19711,NA19713,NA19983,NA20277,NA20291,NA20292,NA20297,NA20332,NA20333,NA20350,NA20801,NA20826,NA20851,NA20862,NA20874,NA20876,NA20877,NA20879,NA20881,NA20897,NA20901,NA21089,NA21090,NA21112,NA21300,NA21301,NA21339,NA21344,NA21360,NA21363,NA21366,NA21378,NA21387,NA21389,NA21420,NA21421,NA21434,NA21436,NA21447,NA21473,NA21573,NA21576,NA21599,NA21601,NA21611,NA21613,NA21632,NA21648,NA21682,NA21686,NA21717,NA21718 esv25828 8 55371651 55373817 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15895 S 451 0 7 "" NA18502,NA18505,NA18508,NA18517,NA18858,NA19108,NA19257 nsv515088 8 55371760 55373384 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627072 S 1414 0 0 "" esv6155 8 55376230 55376316 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28596 S 1 1 0 "" SJK nsv499746 8 55419657 55595137 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585570 S 9 0 0 SOX17 nsv7417 8 55444950 55608496 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10622 S 9 0 0 SOX17 NA18956 nsv890926 8 55509701 55552792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543527,nssv1596040 M 6533 0 2 SOX17 IS40396,MS16153 nsv890927 8 55519024 55542720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508160,nssv1509915 M 6533 0 2 SOX17 SP54725,SP54956 nsv438055 8 55527137 55536440 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469979,nssv469980 M 269 0 2 Samples from several populations that are part of the HapMap project. SOX17 NA19128,NA19172 dgv458n21 8 55566337 55568807 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518856,nsv517989 M 2026 0 2 "" esv1736194 8 55569702 55569776 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4213987 S 2 0 1 "" HuRef nsv509267 8 55586555 55634546 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623539 S 4 1 0 "" NA18994 nsv507466 8 55627119 55633119 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620417 S 4 1 0 "" NA15510 esv275252 8 55627446 55633098 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586028 S 1250 0 1 "" esv1787400 8 55630476 55630476 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893477 S 2 1 0 "" HuRef esv1011032 8 55669109 55669177 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572375 S 3 0 1 "" HuRef nsv6196 8 55704652 55714020 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8492 S 9 0 1 RP1 NA12156 nsv6197 8 55720469 55725676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5088 S 9 1 0 "" NA19129 esv267640 8 55801850 55801961 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511770,essv2501029,essv2505965,essv2507174,essv2509309,essv2501472,essv2498692 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18856,NA18861,NA18870,NA18909,NA19093,NA19138 esv6084 8 55855937 55856004 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28525 S 1 1 0 "" SJK esv29600 8 55899567 55900544 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11086 S 451 2 0 "" NA12828,NA12878 esv2490356 8 55953472 55954810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248542 S 1 0 1 "" NA18507 nsv824635 8 56073226 56074093 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438273 S 31 0 1 "" NA18951 esv267924 8 56195610 56195956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565590,essv2521152,essv2542400,essv2544076,essv2568191,essv2531858,essv2577363,essv2548257,essv2525259,essv2552238,essv2558311,essv2564780,essv2559457,essv2555141,essv2544922,essv2563088,essv2552756,essv2538455,essv2565147,essv2519625,essv2532848,essv2567910,essv2528902,essv2567452,essv2541512,essv2553205,essv2535833,essv2572246,essv2573015,essv2531294,essv2543049,essv2576976,essv2536160,essv2537841 M 157 34 0 Samples from several populations that are part of the HapMap project. XKR4 NA06986,NA07000,NA11829,NA11894,NA11919,NA11992,NA11995,NA12006,NA12043,NA12045,NA12156,NA12489,NA12750,NA12751,NA12776,NA12872,NA18526,NA18532,NA18542,NA18547,NA18558,NA18566,NA18576,NA18577,NA18579,NA18582,NA18592,NA18605,NA18608,NA18609,NA18942,NA18961,NA18965,NA18970 nsv8348 8 56244078 56614476 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19671 S 31 0 1 Samples from several populations that are part of the HapMap project. SBF1P1,XKR4 NA18860 esv4576 8 56270218 56270694 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27017 S 1 0 1 Single Asian sample YH XKR4 YH esv1133504 8 56270256 56270613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3872416 S 2 0 1 XKR4 HuRef nsv6198 8 56277606 56322879 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8493 S 9 0 1 XKR4 NA12156 nsv525982 8 56520828 56529289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702201 S 2026 0 1 SBF1P1,XKR4 nsv516136 8 56543364 56565461 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689411,nssv663314,nssv680544,nssv681425,nssv678857,nssv666443,nssv700712,nssv687467,nssv705842 M 2026 1 8 XKR4 esv2575236 8 56562942 56564599 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386598 S 1 0 1 XKR4 NA18507 esv2060022 8 56563562 56564280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4748181 S 1 0 1 XKR4 NA18507 esv5044 8 56563687 56564140 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27485 S 1 0 1 Single Asian sample YH XKR4 YH esv7601 8 56563766 56564081 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30042 S 1 0 1 XKR4 SJK esv1014449 8 56563771 56564087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841570 S 2 0 1 XKR4 HuRef nsv398441 8 56563772 56564087 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417019 M 24 XKR4 nsv890928 8 56635362 56690196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563193 S 6533 0 1 "" MS25891 nsv890929 8 56645881 56697747 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577117,nssv1577370 M 6533 2 0 "" IS34358,IS34422 esv32815 8 56670290 56672458 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99780 S 51 1 0 "" 22086 esv259793 8 56685307 56685628 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399560,essv2399543,essv2398017 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18570,NA19137,NA19147 nsv6200 8 56723951 56755832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8494 S 9 1 0 "" NA12156 dgv459n21 8 56751982 57105693 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523483,nsv525361 M 2026 2 0 LYN,TGS1,TMEM68 nsv527341 8 56754845 56970812 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703767 S 2026 1 0 LYN,TGS1,TMEM68 esv2422388 8 56782207 56887550 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161337 S 181 1 0 TGS1,TMEM68 ND04069 nsv890930 8 56802324 56920362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550431 S 6533 1 0 TGS1,TMEM68 MS18431 nsv512956 8 56819229 56819488 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625608 S 1 1 0 TMEM68 1 esv2536220 8 56819343 56819765 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165574 S 1 1 0 TMEM68 NA18507 esv2239294 8 56820958 56821486 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4519391 S 1 0 1 TMEM68 NA18507 esv1187136 8 56821160 56821296 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075916 S 2 0 1 TMEM68 HuRef esv1413049 8 56829878 56829878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289978 S 2 1 0 TMEM68 HuRef esv2466341 8 56838074 56839508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234080 S 1 0 1 TMEM68 NA18507 esv2112192 8 56838718 56839154 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674514 S 1 0 1 TMEM68 NA18507 esv996855 8 56838831 56838960 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565973 S 3 0 1 TMEM68 HuRef dgv245n6 8 56838832 56838962 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396121,nsv396270 M 24 TMEM68 esv1134681 8 56838832 56838962 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4283785 S 2 0 1 TMEM68 HuRef esv2571467 8 56838836 56838965 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371517 S 1 0 1 TMEM68 NA18507 esv2177489 8 56841998 56842437 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574748 S 1 0 1 TMEM68 NA18507 esv4861 8 56842087 56842477 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27302 S 1 0 1 Single Asian sample YH TMEM68 YH esv1781494 8 56842219 56842321 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766063 S 2 0 1 TMEM68 HuRef nsv510148 8 56850012 56856012 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618293 S 4 0 1 TGS1 CHM dgv889n27 8 56874267 57038773 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465691,nsv465692,nsv465690 M 1557 3 0 LYN,TGS1 1780854477_A,1780862082_A,NINDS_186 esv2752257 8 56942200 57045000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985606,essv6985605,essv6981553,essv6981552,essv6981551 M 771 1 0 LYN BEC_299 nsv522326 8 56985962 57008823 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695107 S 2026 1 0 LYN esv1459437 8 56986190 56986282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342987 S 2 0 1 LYN HuRef esv1236863 8 56986383 56986383 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721075 S 2 1 0 LYN HuRef nsv527033 8 57006484 57008823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703408 S 2026 0 1 LYN nsv831319 8 57031842 57210565 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447082 S 95 1 0 LYN,MOS,RPS20,SNORD54 esv270207 8 57055497 57055696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494388,essv2497899,essv2512350,essv2505660,essv2496916,essv2499668 M 157 6 0 Samples from several populations that are part of the HapMap project. LYN NA18502,NA18945,NA18949,NA19005,NA19190,NA19225 nsv507467 8 57073814 57079814 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623045 S 4 1 0 LYN NA18994 nsv524526 8 57079720 57190661 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700475 S 2026 0 1 LYN,MOS,RPS20,SNORD54 esv2324469 8 57129684 57130221 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4501541 S 1 0 1 "" NA18507 esv4515 8 57129823 57130084 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26956 S 1 0 1 Single Asian sample YH "" YH nsv398124 8 57129871 57130023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416702 M 24 "" esv2632486 8 57129883 57130035 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319607 S 1 0 1 "" NA18507 nsv525972 8 57149291 57158229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702188 S 2026 0 1 RPS20 esv22674 8 57151570 57160264 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17692 S 451 0 1 "" NA19257 esv2422120 8 57153936 57158229 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059010,essv5029230,essv5086866,essv5086901,essv5084309,essv5037636,essv5145725,essv5154723,essv5090668,essv5038557,essv5119604,essv5078735,essv5009930,essv5068039,essv5021174,essv5028860,essv5032107,essv5152225 M 1184 0 18 "" NA19044,NA19118,NA19131,NA19132,NA19174,NA19257,NA19327,NA19332,NA19360,NA19390,NA19404,NA19818,NA19828,NA21381,NA21383,NA21647,NA21648,NA21722 nsv516227 8 57157874 57158229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660809,nssv666958 M 2026 0 2 "" nsv890931 8 57209030 57258362 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499670 S 6533 1 0 PLAG1 SP50085 esv26536 8 57211191 57261088 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17979 S 451 1 0 PLAG1 NA12156 nsv442108 8 57212475 57256905 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PLAG1 nsv433401 8 57233890 57259395 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463282 S 9 1 0 Samples from several populations that are part of the HapMap project. PLAG1 NA12156 esv1186165 8 57357650 57357709 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291043 S 2 0 1 "" HuRef esv4780 8 57462694 57462929 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27221 S 1 0 1 Single Asian sample YH "" YH nsv397753 8 57462756 57462871 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416331 M 24 "" nsv890932 8 57467587 58574277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515099 S 6533 1 0 C8orf71,IMPAD1,LOC100507632,LOC100507651,LOC286177,PENK SP56120 nsv6201 8 57497250 57510040 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8495 S 9 0 1 "" NA12156 nsv6202 8 57640125 57676061 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8496 S 9 0 1 "" NA12156 nsv831320 8 57642465 57808196 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447083 S 95 0 1 "" nsv6203 8 57677734 57711171 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3650 S 9 1 0 "" NA12878 esv275151 8 57776449 57778541 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585572,essv2585601 M 1250 1 1 "" nsv438056 8 57781260 57791776 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469981 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18500 nsv6204 8 57857456 57902747 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8497 S 9 0 1 "" NA12156 nsv527346 8 57870488 57878293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703773 S 2026 0 1 "" nsv509268 8 57923536 57961918 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623540 S 4 1 0 "" NA18994 esv23988 8 57939821 57942903 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10589 S 451 3 0 "" NA06985,NA12004,NA18502 esv3775 8 57942329 57942567 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26216 S 1 0 1 Single Asian sample YH "" YH esv272762 8 58010438 58010642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580434,essv2579022 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239 esv271276 8 58010453 58010787 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565805,essv2540819,essv2570952,essv2525390,essv2550344,essv2535451,essv2554928,essv2530802,essv2528384,essv2539996,essv2557359,essv2556849,essv2552513,essv2532365,essv2569594,essv2578637,essv2550036,essv2536829,essv2561729,essv2523647,essv2565102,essv2566066,essv2532860,essv2567877,essv2528784,essv2566926,essv2543603,essv2556266,essv2528095,essv2562339,essv2533961,essv2555500,essv2555874,essv2525825,essv2529675,essv2538821,essv2526567,essv2560660,essv2524262,essv2574864,essv2530289,essv2572632,essv2568522,essv2548135,essv2549775,essv2545764,essv2551571,essv2535912,essv2549024 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11829,NA11831,NA11993,NA12156,NA12234,NA12249,NA12872,NA12873,NA12891,NA18489,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18511,NA18517,NA18523,NA18537,NA18558,NA18572,NA18576,NA18577,NA18579,NA18853,NA18870,NA18871,NA18907,NA18909,NA18916,NA18945,NA18956,NA18980,NA19093,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19210,NA19225,NA19239,NA19257 essv6717 8 58092946 58378511 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C8orf71,LOC100507651,LOC286177 NA18608 dgv246n6 8 58125976 58131991 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv395875,nsv395797 M 24 "" nsv8349 8 58126633 58132346 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18179 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv509270 8 58129179 58156670 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619529,nssv620908 M 4 2 0 "" NA10860,NA15510 nsv508510 8 58129582 58156670 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622595 S 4 0 1 "" NA18994 nsv510982 8 58129582 58169050 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618663 S 4 0 0 "" CHM nsv6205 8 58132701 58159311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3651,nssv730,nssv10623,nssv1739,nssv5089,nssv8498 M 9 6 0 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv1009089 8 58146268 58148108 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565065 S 3 1 0 "" HuRef nsv8350 8 58152856 58154930 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17908 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv890933 8 58168477 58246560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539773 S 6533 0 1 "" MS14495 nsv509271 8 58181233 58181233 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623541 S 4 1 0 "" NA18994 dgv7799n71 8 58200076 58277297 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890934,nsv890935 M 6533 0 2 "" IS35181,SP54768 esv25719 8 58209490 58362028 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17492,esv10908,esv11703,esv16967,esv12840,esv12323 M 451 37 1 C8orf71,LOC100507651,LOC286177 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv2241e1 8 58226061 58378511 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14409,essv23861,essv305,essv20226,essv20034,essv4608,essv15484,essv3871,essv7337,essv534,essv910,essv16667,essv22073,essv2437,essv2491,essv216,essv2055,essv3145,essv8726,essv22173,essv16487,essv8652,essv14645,essv10880,essv10028,essv2984,essv4165,essv23011,essv6292,essv16087,essv6603,essv20439,essv19650,essv13194,essv13444,essv18654,essv9698,essv17952,essv2826,essv20359,essv13714,essv4830,essv12821,essv9185,essv10671,essv23496,essv10230,essv7823,essv10388,essv10167,essv16898,essv12260,essv10736,essv17796,essv6133,essv9051,essv5942,essv15577,essv18209,essv14197,essv20122,essv21871,essv9622,essv5808,essv18,essv24367,essv15762,essv19422,essv22641,essv11050,essv16354,essv4871,essv12300,essv3954,essv24480,essv9877,essv7548,essv15846,essv14316,essv11647,essv7219,essv14967,essv4629,essv13514,essv13786,essv4818,essv4078,essv6287,essv8944,essv15060,essv23353,essv24884,essv20884,essv17663,essv8133,essv24515,essv4423,essv13597,essv11967,essv7279,essv7433,essv1207,essv16957,essv17147,essv18840,essv9316,essv17293,essv22489,essv11424,essv19973,essv1732,essv24566,essv22462,essv8326,essv24987,essv3413,essv23433,essv23945,essv12507,essv4235,essv11589,essv21154,essv9454,essv18425,essv9771,essv15414,essv11162,essv19532,essv16767,essv21450,essv15699,essv12417,essv16248,essv11207,essv6742,essv12712,essv15285,essv18270,essv22376,essv5300,essv1450,essv23119,essv3696,essv19002,essv12588,essv5228,essv16418,essv24066,essv419,essv10533,essv2888,essv6922,essv22859,essv1967,essv2180,essv14784,essv15376,essv23593,essv6992,essv11950,essv1151,essv17706,essv2280,essv11792,essv17443,essv14109,essv22209,essv4442 M 271 0 0 C8orf71,LOC100507651,LOC286177 NA07000,NA07022,NA07034,NA07048,NA07345,NA10830,NA10831,NA10839,NA10846,NA10854,NA10857,NA10859,NA11831,NA11839,NA11840,NA11881,NA11882,NA11992,NA12003,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12154,NA12234,NA12236,NA12264,NA12707,NA12717,NA12750,NA12751,NA12752,NA12760,NA12761,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12872,NA12875,NA12891,NA18502,NA18504,NA18505,NA18507,NA18517,NA18523,NA18524,NA18532,NA18540,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18573,NA18592,NA18594,NA18603,NA18605,NA18609,NA18611,NA18612,NA18620,NA18621,NA18623,NA18635,NA18636,NA18853,NA18855,NA18856,NA18857,NA18861,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18960,NA18964,NA18966,NA18970,NA18978,NA18981,NA18987,NA18991,NA18994,NA18997,NA18998,NA18999,NA19000,NA19003,NA19012,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19192,NA19193,NA19194,NA19200,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19210,NA19211,NA19222,NA19223,NA19238,NA19239,NA19240 nsv428200 8 58226061 58378511 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451528,nssv451518,nssv451525,nssv451529,nssv451526,nssv451522,nssv451516,nssv451515,nssv451533,nssv451513,nssv451524,nssv451527,nssv451517,nssv451521,nssv451532,nssv451530,nssv451519,nssv451523,nssv451514 M 62 19 0 C8orf71,LOC100507651,LOC286177 HGDP00449,HGDP00450,HGDP00460,HGDP00471,HGDP00476,HGDP00478,HGDP00984,HGDP01086,HGDP01087,HGDP01088,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19189,NA19225,NA19257 essv23829 8 58226061 58525998 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C8orf71,LOC100507651,LOC286177 NA12763 nsv824636 8 58247701 58248437 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424343,nssv1435978,nssv1427613,nssv1438275,nssv1434532,nssv1422726 M 31 6 0 "" AK8,NA18552,NA18566,NA18570,NA18582,NA18951 nsv831321 8 58249439 58400298 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447092,nssv1447089,nssv1447090,nssv1447106,nssv1447095,nssv1447091,nssv1447105,nssv1447104,nssv1447108,nssv1447094,nssv1447093,nssv1447084,nssv1447098,nssv1447097,nssv1447088,nssv1447099,nssv1447103,nssv1447087,nssv1447100,nssv1447086,nssv1447101,nssv1447102 M 95 16 6 C8orf71,LOC100507651,LOC286177 esv6590 8 58257456 58257520 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29031 S 1 1 0 "" SJK nsv824637 8 58270718 58300949 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425893 S 31 1 0 LOC100507651 AK4 esv994749 8 58272797 58280823 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563722 S 3 1 0 "" HuRef nsv509272 8 58273475 58297411 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619530,nssv620909,nssv618071,nssv623542 M 4 4 0 LOC100507651 CHM,NA10860,NA15510,NA18994 nsv8351 8 58274186 58300991 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17676,nssv16402,nssv17224,nssv19701,nssv17523,nssv17215,nssv17938,nssv17968,nssv19731,nssv20354,nssv17628,nssv16847,nssv21330,nssv18751,nssv16674,nssv18129,nssv16180,nssv18811,nssv16355,nssv19783,nssv17265,nssv20213,nssv18338,nssv16616,nssv17000,nssv17557,nssv19677,nssv17326,nssv19647,nssv15581,nssv15551,nssv18209,nssv16150,nssv17658,nssv17194,nssv16189,nssv18368,nssv17030,nssv17012,nssv19152 M 31 30 0 Samples from several populations that are part of the HapMap project. LOC100507651 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv6206 8 58276684 58285605 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11185,nssv9749,nssv10624,nssv1740,nssv731,nssv9460,nssv1741,nssv5091,nssv5090 M 9 7 0 "" NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 dgv1183n67 8 58276918 58291806 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824640,nsv824645,nsv824639,nsv824638,nsv824648,nsv824641,nsv824644,nsv824643,nsv824647,nsv824646 M 31 26 0 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK6,AK8,NA18526,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv819305 8 58277336 58293774 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418658 S 2 1 0 "" AK1 nsv515089 8 58279096 58291752 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627073 S 1414 0 0 "" nsv442518 8 58279104 58292579 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv3886 8 58279211 58290302 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26327 S 1 0 0 Single Asian sample YH "" YH esv1972599 8 58279272 58280969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568896 S 1 0 1 "" NA18507 nsv436570 8 58279281 58286695 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466471 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv7965 8 58279389 58290099 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30406 S 1 0 1 "" SJK esv8346 8 58279422 58280822 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30787 S 1 0 1 "" SJK dgv1184n67 8 58280415 58290256 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824649,nsv824650 M 31 5 0 "" AK8,NA18564,NA18570,NA18951,NA18999 nsv821056 8 58280415 58290697 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420763 S 1 1 0 "" NA10851 esv2447475 8 58280717 58289963 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238137 S 1 1 0 "" NA18507 nsv397205 8 58280824 58282177 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415783 M 24 "" esv33623 8 58280866 58306288 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94332,essv95599,essv95445,essv99126,essv99197 M 51 5 0 LOC100507651 21808,21841,21847,21938,22275 nsv27 8 58281102 58283638 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv27 S 1 1 0 "" NA15510 nsv435875 8 58281233 58285790 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466474 S 2 0 1 "" NA15510 esv990912 8 58285004 58300596 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564834 S 3 1 0 LOC100507651 HuRef esv2203992 8 58285415 58290169 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649237 S 1 0 1 "" NA18507 esv8969 8 58285603 58289975 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31410 S 1 0 1 "" SJK esv1518843 8 58285605 58285605 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001716 S 2 1 0 "" HuRef nsv6207 8 58285663 58299667 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3652,nssv3653,nssv1742,nssv5092,nssv733,nssv9750,nssv9461,nssv5093,nssv11186 M 9 7 0 LOC100507651 NA12878,NA15510,NA18507,NA18517,NA18555,NA19129,NA19240 nsv28 8 58285950 58287592 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv28 S 1 1 0 "" NA15510 esv2512355 8 58289963 58292014 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211391 S 1 1 0 "" NA18507 nsv8352 8 58332402 58336742 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21360 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC286177 NA19221 esv259933 8 58334890 58335582 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400220,essv2396613,essv2400352,essv2398531,essv2395506,essv2395075,essv2400445,essv2400154,essv2399147,essv2395890,essv2399647 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA18526,NA18555,NA18562,NA18563,NA18571,NA18592,NA18608,NA18609,NA18945,NA18964 nsv8353 8 58341760 58350868 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17553,nssv20384 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA18517 nsv8354 8 58357174 58359706 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17356,nssv17583 M 31 2 0 Samples from several populations that are part of the HapMap project. C8orf71 NA07048,NA18552 nsv824651 8 58357863 58358606 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425110 S 31 1 0 C8orf71 AK2 nsv890936 8 58428893 58727055 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570471 S 6533 1 0 "" IS32079 dgv460n21 8 58468523 58735025 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518178,nsv524390 M 2026 2 0 "" essv12251 8 58468949 58637003 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19101 nsv398466 8 58505955 58512469 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417044 M 24 "" nsv6208 8 58507765 58552442 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9916,nssv8499,nssv5095 M 9 0 3 "" NA12156,NA18507,NA19129 nsv437623 8 58512321 58539057 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467504 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv396987 8 58512483 58512749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415565 M 24 "" esv2538211 8 58513873 58515998 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163906 S 1 0 1 "" NA18507 nsv824652 8 58514307 58515345 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428433 S 31 0 1 "" AK10 nsv517684 8 58517980 58530376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683410,nssv682817,nssv678206,nssv668869,nssv692999,nssv668298,nssv688679,nssv682687,nssv674919,nssv667014,nssv687605,nssv693418,nssv656872,nssv664768,nssv664243,nssv674885,nssv662370,nssv666532,nssv653070,nssv667484,nssv667537,nssv677550,nssv654163,nssv691519,nssv690360,nssv674519,nssv678655,nssv688237,nssv683817,nssv673104 M 2026 0 30 "" esv2507333 8 58519219 58531929 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233284 S 1 0 1 "" NA18507 esv2299745 8 58519455 58531249 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671538 S 1 0 1 "" NA18507 esv22478 8 58519676 58531070 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15034 S 451 0 1 "" NA19129 nsv818630 8 58520049 58530376 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416652,nssv1417894,nssv1417892 M 112 0 3 "" NA18852,NA18854,NA19119 esv2444146 8 58520070 58530647 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5246834 S 1 0 1 "" NA18507 nsv515090 8 58520472 58529540 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627962 S 1414 0 1 "" dgv32n14 8 58520505 58530376 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433249,nsv433248 M 9 0 2 "" NA18507,NA19129 esv2421601 8 58520505 58530376 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5047759,essv5154267,essv5114767,essv5096657,essv5140278,essv5033023,essv5134809,essv5110246,essv5065251,essv5133080,essv5121058,essv5127459,essv5034804,essv5017096,essv5002072,essv5119983,essv5079431,essv5068326,essv5085620,essv5041905,essv5079171,essv5086966,essv5030740,essv5065648,essv5017733,essv5110749,essv5037041,essv5137760,essv5086701,essv5048108,essv5087469,essv5147056 M 1184 0 32 "" NA18507,NA18852,NA18854,NA18910,NA19044,NA19101,NA19103,NA19117,NA19119,NA19127,NA19129,NA19174,NA19207,NA19308,NA19428,NA19430,NA19456,NA19466,NA20127,NA20128,NA20302,NA21448,NA21453,NA21454,NA21493,NA21494,NA21509,NA21513,NA21514,NA21608,NA21614,NA21733 nsv442109 8 58520879 58529512 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438057 8 58526557 58527676 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469983,nssv469982 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19127,NA19129 nsv515091 8 58529756 58531032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627963 S 1414 0 1 "" nsv831322 8 58551970 58713796 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447110,nssv1447109 M 95 1 1 "" esv1423096 8 58598364 58598692 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611421 S 2 0 1 "" HuRef nsv6209 8 58615975 58649154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1743 S 9 1 0 "" NA18555 nsv890937 8 58763548 58858361 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533838 S 6533 1 0 "" MS11306 nsv6211 8 58817728 58852283 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3654 S 9 1 0 "" NA12878 nsv831323 8 58855102 59012416 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447111 S 95 1 0 "" esv2509446 8 58958574 58960028 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320571 S 1 0 1 "" NA18507 nsv831324 8 59006705 59207863 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447112,nssv1447113 M 95 0 2 FAM110B esv1983545 8 59238314 59238783 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892520 S 1 0 1 "" NA18507 esv1008047 8 59238419 59238508 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573536 S 3 0 1 "" HuRef esv1559497 8 59238443 59238533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4263051 S 2 0 1 "" HuRef esv2589647 8 59240649 59242066 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329651 S 1 0 1 "" NA18507 nsv512049 8 59240734 59241509 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624601 S 1 0 1 "" 1 esv2299885 8 59240831 59241534 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649647 S 1 0 1 "" NA18507 esv4205 8 59240951 59241492 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26646 S 1 0 1 Single Asian sample YH "" YH esv1008809 8 59241007 59241342 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574573 S 3 0 1 "" HuRef esv6064 8 59241019 59241352 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28505 S 1 0 1 "" SJK esv2635754 8 59284932 59286278 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176795 S 1 0 1 "" NA18507 nsv526320 8 59300918 59310810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702608 S 2026 0 1 "" esv7818 8 59431570 59431621 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30259 S 1 1 0 "" SJK esv259789 8 59464708 59483480 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399995 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18940 essv723 8 59467844 59504885 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. UBXN2B NA18940 nsv438058 8 59468387 59481002 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469985,nssv469984 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18940,NA19003 nsv890938 8 59517607 59972339 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583984 S 6533 1 0 CYP7A1,NSMAF,SDCBP,TOX,UBXN2B IS36766 esv994118 8 59564958 59572583 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565280 S 3 0 1 CYP7A1 HuRef nsv6212 8 59598225 59614304 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1744 S 9 0 1 "" NA18555 nsv890939 8 59633741 59706967 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521575 S 6533 1 0 NSMAF,SDCBP SP52440 esv272044 8 59645391 59645883 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508073,essv2507207,essv2513494,essv2502052 M 157 4 0 Samples from several populations that are part of the HapMap project. SDCBP NA12045,NA18870,NA18907,NA19257 nsv397168 8 59651547 59660430 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415746 M 24 NSMAF,SDCBP nsv831325 8 59655134 59856997 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447114 S 95 1 0 NSMAF,SDCBP esv271778 8 59661518 59661816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510679,essv2501112,essv2507118 M 157 3 0 Samples from several populations that are part of the HapMap project. NSMAF NA18501,NA18516,NA18870 esv268737 8 59778509 59778854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519170,essv2514042,essv2515415,essv2515088,essv2516397,essv2517979,essv2516020,essv2517580,essv2516254,essv2516888,essv2515257,essv2518854 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12043,NA12249,NA12812,NA12814,NA12872,NA12873,NA12878,NA12891,NA12892,NA19238,NA19239 esv273482 8 59778514 59778849 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582255,essv2582949,essv2584133,essv2584501 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239 esv1386404 8 59778544 59778544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3647271 S 2 1 0 "" HuRef esv272540 8 59808158 59808506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579050,essv2579447 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv4839 8 59826920 59828028 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27280 S 1 0 1 Single Asian sample YH "" YH esv22256 8 59844874 59847012 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16235,esv19596 M 451 0 4 "" NA12239,NA18505,NA19108,NA19257 nsv6213 8 59865620 59899741 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3655 S 9 1 0 TOX NA12878 nsv890940 8 59947966 59972339 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551979 S 6533 0 1 TOX MS19068 nsv526468 8 59962374 59976363 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702772 S 2026 0 1 TOX esv268010 8 60068977 60069307 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546477,essv2568189,essv2558505,essv2553657,essv2552477,essv2544575,essv2538306,essv2542740,essv2524453,essv2565033,essv2549516,essv2559872,essv2522280,essv2566211,essv2532698,essv2570174,essv2542074,essv2534153,essv2578394,essv2555675,essv2534440,essv2573517,essv2525563,essv2526958,essv2529626,essv2530388,essv2525204 M 157 27 0 Samples from several populations that are part of the HapMap project. TOX NA07357,NA11881,NA11995,NA12750,NA12763,NA18502,NA18526,NA18547,NA18550,NA18555,NA18558,NA18564,NA18570,NA18571,NA18572,NA18576,NA18593,NA18856,NA18916,NA18940,NA18945,NA18959,NA18964,NA18980,NA19005,NA19093,NA19141 nsv525018 8 60139388 60151133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701057 S 2026 0 1 TOX esv1732094 8 60167391 60167391 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734281 S 2 1 0 TOX HuRef esv1476730 8 60167433 60167433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998610 S 2 1 0 TOX HuRef nsv831327 8 60170966 60321706 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447115 S 95 0 1 TOX nsv6214 8 60182291 60215303 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1745 S 9 1 0 TOX NA18555 esv1974990 8 60217906 60218335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575117 S 1 0 1 "" NA18507 nsv831328 8 60225525 60450830 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447125,nssv1447122,nssv1447124,nssv1447123,nssv1447116,nssv1447119,nssv1447120,nssv1447117,nssv1447121 M 95 9 0 "" nsv507468 8 60264095 60270095 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621917 S 4 1 0 "" NA10860 nsv511399 8 60294748 60308793 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626006 S 1 1 0 "" 1 dgv1185n67 8 60297930 60299150 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824654,nsv824655 M 31 8 0 "" AK14,NA18526,NA18542,NA18547,NA18552,NA18570,NA18942,NA18968 esv259889 8 60298025 60299201 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400610,essv2396851 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18576,NA18638 esv24960 8 60298115 60299046 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12434 S 451 4 0 "" NA07037,NA07045,NA11993,NA11995 nsv507469 8 60305100 60311100 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623046,nssv620418,nssv617769 M 4 3 0 "" CHM,NA15510,NA18994 nsv831329 8 60325531 60518585 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447126 S 95 1 0 "" esv33211 8 60365961 60367522 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95546 S 51 0 1 "" 21847 nsv831330 8 60432952 60676632 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447127 S 95 1 0 "" nsv890941 8 60472404 60544149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504274 S 6533 1 0 "" SP52390 esv2493574 8 60485027 60486562 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337069 S 1 0 1 "" NA18507 nsv6215 8 60602744 60646693 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6225 S 9 0 1 "" NA12156 esv2592138 8 60604773 60606220 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184948 S 1 0 1 "" NA18507 esv25784 8 60614293 60617188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17150 S 451 0 1 "" NA12156 nsv515092 8 60614656 60617108 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627964 S 1414 0 1 "" nsv890942 8 60801911 60848884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519196,nssv1513309,nssv1509042,nssv1499665,nssv1515067,nssv1502101,nssv1516249,nssv1499169 M 6533 0 8 "" SP50081,SP50171,SP51030,SP54680,SP55729,SP56119,SP56710,SP80982 nsv824656 8 60814174 60815005 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425111 S 31 0 1 "" AK2 nsv526889 8 60818748 60829785 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703247 S 2026 1 0 "" nsv397124 8 60827967 60828023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415702 M 24 "" esv259576 8 60834647 60834916 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394242,essv2393777 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238 esv259843 8 60834660 60834933 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397279,essv2395636,essv2400705,essv2399413,essv2395352,essv2398192,essv2397147,essv2396449,essv2395944 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA18501,NA18542,NA18858,NA18916,NA18949,NA18951,NA19138,NA19238 esv996955 8 60834746 60834746 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566998 S 3 1 0 "" HuRef esv1758656 8 60834820 60834820 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205783 S 2 1 0 "" HuRef esv2447729 8 60884379 60885872 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319774 S 1 0 1 "" NA18507 nsv831331 8 60932936 61122187 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447128 S 95 0 1 "" esv2607334 8 61036938 61038390 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5221235 S 1 0 1 "" NA18507 essv15945 8 61146767 61184397 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18515 nsv831332 8 61148154 61320284 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447130 S 95 1 0 CA8 nsv6216 8 61158290 61173423 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv734 S 9 0 1 "" NA19240 nsv8355 8 61158589 61170436 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18841 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv28284 8 61159082 61170318 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15677 S 451 0 1 "" NA19240 nsv499796 8 61159103 61170331 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586085 S 9 0 1 "" nsv515093 8 61159288 61170200 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627965 S 1414 0 1 "" nsv433250 8 61159909 61168404 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463131 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv465693 8 61159909 61168404 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541446 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00904 nsv818631 8 61159909 61168404 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416851,nssv1416852,nssv1416366,nssv1416459,nssv1416460 M 112 0 5 "" NA18515,NA18516,NA18855,NA19238,NA19240 esv2421389 8 61159909 61170323 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5043340,essv5019091,essv5010837,essv5077986,essv5005859,essv5037794,essv5114669,essv5036798,essv5030480,essv5109822,essv5066346,essv5048331,essv5034633,essv5069844,essv5060310,essv5104079,essv5040430 M 1184 0 17 "" NA18487,NA18509,NA18511,NA18515,NA18516,NA18855,NA19118,NA19174,NA19238,NA19240,NA19256,NA19258,NA19328,NA19704,NA20356,NA21608,NA21615 nsv517115 8 61159909 61171540 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680063,nssv674447,nssv670056,nssv675784,nssv664861,nssv653228,nssv660748,nssv661703,nssv662521,nssv653809,nssv657797,nssv683969,nssv680728,nssv658651,nssv684039,nssv690826,nssv665643,nssv683065,nssv656873,nssv666489,nssv687606,nssv693081,nssv677141,nssv668947,nssv651962,nssv664751,nssv675575,nssv662371,nssv658522,nssv678524,nssv665190 M 2026 0 31 "" nsv438060 8 61164061 61168404 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469987 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18516 nsv442519 8 61165356 61170323 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv17394 8 61165748 61172818 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18855 nsv831333 8 61265416 61437676 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447132,nssv1447131 M 95 2 0 CA8 nsv396601 8 61265589 61266051 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415179 M 24 CA8 nsv890943 8 61297549 61388206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533637 S 6533 0 1 CA8 MS11249 nsv831334 8 61311350 61492744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447133 S 95 1 0 CA8 esv271002 8 61357373 61357562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503862,essv2504270,essv2493921,essv2507333,essv2501943 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12761,NA18505,NA18871,NA18912,NA19239 esv274002 8 61357373 61357705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579141 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv996106 8 61367549 61367865 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574896 S 3 0 1 "" HuRef nsv396979 8 61367552 61367868 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415557 M 24 "" esv23425 8 61380675 61390427 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10424 S 451 1 0 "" NA19257 nsv523071 8 61404416 61436119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698760 S 2026 0 1 "" nsv890944 8 61415054 61469669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550432 S 6533 1 0 "" MS18431 nsv6217 8 61459231 61487656 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5096 S 9 1 0 "" NA19129 esv273735 8 61642709 61644200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579131,essv2579586 M 7 2 0 Samples from several populations that are part of the HapMap project. RAB2A NA19239,NA19240 esv269471 8 61642790 61644106 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501728,essv2498188 M 157 2 0 Samples from several populations that are part of the HapMap project. RAB2A NA19239,NA19240 nsv6218 8 61647964 61693487 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6226 S 9 0 1 RAB2A NA12156 nsv831335 8 61660094 61851546 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447134 S 95 0 1 CHD7,RAB2A nsv890945 8 61684562 61870279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562176 S 6533 1 0 CHD7,RAB2A MS25414 esv270573 8 61689312 61689397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519243,essv2517660 M 157 2 0 Samples from several populations that are part of the HapMap project. RAB2A NA11894,NA12878 esv272923 8 61689312 61689397 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581344 S 7 1 0 Samples from several populations that are part of the HapMap project. RAB2A NA12878 esv1615811 8 61689351 61689351 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222263 S 2 1 0 RAB2A HuRef nsv824657 8 61717781 61789312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435222 S 31 0 1 CHD7 NA18942 nsv824658 8 61724042 61774662 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441193 S 31 1 0 CHD7 NA18969 nsv525495 8 61729209 61730764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701627 S 2026 0 1 "" nsv824659 8 61748761 61758703 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437564 S 31 1 0 CHD7 NA18949 nsv526196 8 61756123 62040177 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702458 S 2026 1 0 CHD7 esv2462449 8 61757825 61759276 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350140 S 1 0 1 CHD7 NA18507 nsv6219 8 61762324 61807112 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8500 S 9 0 1 CHD7 NA12156 esv1009733 8 61850476 61850478 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575280 S 3 1 0 CHD7 HuRef nsv397201 8 61850480 61850480 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415779 M 24 CHD7 nsv890946 8 61889433 61964630 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562177 S 6533 1 0 CHD7 MS25414 esv259681 8 61942929 61944055 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395019,essv2394819 M 144 0 0 Samples from several populations that are part of the HapMap project. CHD7 NA18519,NA19114 nsv890947 8 61978440 62045305 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596541 S 6533 1 0 LOC100130298 IS40557 nsv890948 8 62007320 62117524 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562178 S 6533 1 0 LOC100130298 MS25414 esv1008507 8 62020206 62034566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565388 S 3 0 1 "" HuRef dgv183e180 8 62020741 62032334 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1011118,esv1008761,esv991927,esv1004207 M 3 0 1 "" HuRef nsv521032 8 62020767 62030149 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691531,nssv680272,nssv686572,nssv688695,nssv697545 M 2026 0 5 "" dgv890n27 8 62020767 62032203 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465695,nsv465696 M 1557 0 2 "" HGDP01079,HGDP01378 esv1998554 8 62108275 62108750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788191 S 1 0 1 "" NA18507 esv4440 8 62108394 62108660 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26881 S 1 0 1 Single Asian sample YH "" YH esv1114764 8 62108430 62108579 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255432 S 2 0 1 "" HuRef nsv525076 8 62109521 62110127 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701131 S 2026 0 1 "" nsv465697 8 62126253 62188502 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541450 S 1557 1 0 "" 1780854061_A esv2049144 8 62127433 62127864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4609053 S 1 0 1 "" NA18507 nsv527468 8 62156727 62157335 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703911 S 2026 0 1 "" nsv397049 8 62196885 62197682 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415627 M 24 "" esv1003680 8 62197890 62198419 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587184 S 3 1 0 "" HuRef dgv1186n67 8 62197890 62198467 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824661,nsv824660 M 31 0 8 "" AK14,AK16,AK6,AK8,NA18552,NA18564,NA18570,NA18942 nsv465698 8 62199347 62342019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541451 S 1557 0 1 "" 1780854327_A nsv890949 8 62235900 62303895 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554762 S 6533 0 1 "" MS20969 nsv6220 8 62262750 62318559 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3656,nssv2789,nssv6227,nssv735 M 9 4 0 "" NA12156,NA12878,NA18555,NA19240 nsv509273 8 62273373 62305714 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618072,nssv620910,nssv623543 M 4 3 0 "" CHM,NA15510,NA18994 nsv396693 8 62282406 62282406 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415271 M 24 "" nsv397289 8 62282520 62282520 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415867 M 24 "" nsv6222 8 62319328 62325327 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv736 S 9 1 0 "" NA19240 nsv831336 8 62350950 62527427 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447135,nssv1447136 M 95 2 0 CLVS1 nsv523363 8 62402587 62408338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699112 S 2026 0 1 CLVS1 esv7324 8 62420138 62420209 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29765 S 1 1 0 CLVS1 SJK nsv6223 8 62457458 62502542 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8501 S 9 0 1 CLVS1 NA12156 nsv521898 8 62527217 62581674 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694669 S 2026 1 0 ASPH,CLVS1 esv987877 8 62542134 62543406 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564545 S 3 1 0 CLVS1 HuRef esv23432 8 62543127 62549882 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14468 S 451 2 0 CLVS1 NA11931,NA12776 dgv184e180 8 62543149 62549882 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv997484,esv1007319 M 3 1 0 CLVS1 HuRef esv992867 8 62546099 62547782 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563714 S 3 1 0 CLVS1 HuRef esv1001731 8 62550881 62552793 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564095 S 3 1 0 CLVS1 HuRef esv1949409 8 62640548 62641000 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4607872 S 1 0 1 ASPH NA18507 esv22699 8 62675436 62678003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17399 S 451 0 4 ASPH NA18907,NA18909,NA19129,NA19257 nsv890950 8 62680517 62779581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540562 S 6533 0 1 ASPH MS14918 nsv436576 8 62829048 62835717 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466475 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv831338 8 62898948 63075602 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447137,nssv1447138 M 95 2 0 "" nsv528894 8 63048242 63048407 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705578 S 2026 0 1 "" dgv7800n71 8 63051723 63152018 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890952,nsv890951,nsv890953 M 6533 0 4 "" IS35701,IS41867,IS41889,MS21771 dgv7801n71 8 63082245 63225135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890955,nsv890954 M 6533 0 2 "" IS30171,IS35179 nsv520442 8 63091269 63124625 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678691,nssv702665,nssv671504 M 2026 0 3 "" esv2429793 8 63092067 63093615 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366011 S 1 0 1 "" NA18507 esv2199040 8 63092508 63093201 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4647598 S 1 0 1 "" NA18507 esv5521 8 63092711 63093011 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27962 S 1 0 1 "" SJK esv22308 8 63197553 63202929 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12888 S 451 0 3 "" NA07045,NA18523,NA19225 nsv6224 8 63200745 63216818 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8502 S 9 1 0 "" NA12156 esv1365974 8 63286405 63286470 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954397 S 2 0 1 "" HuRef esv1254403 8 63287127 63287269 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4191647 S 2 0 1 "" HuRef dgv2242e1 8 63318677 63422736 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14950,essv12107 M 271 0 0 NKAIN3 NA19132,NA19173 nsv818632 8 63371253 63385435 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416368,nssv1416367 M 112 0 2 NKAIN3 NA18855,NA18857 esv2443694 8 63376692 63388904 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371407 S 1 0 1 NKAIN3 NA18507 nsv6225 8 63376794 63424839 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9751 S 9 0 1 NKAIN3 NA18507 esv2484852 8 63377343 63388540 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5313110 S 1 0 1 NKAIN3 NA18507 nsv8356 8 63377712 63388232 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18239,nssv19707,nssv19791 M 31 0 3 Samples from several populations that are part of the HapMap project. NKAIN3 NA18860,NA19132,NA19173 esv2159853 8 63377769 63387944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556179 S 1 0 1 NKAIN3 NA18507 nsv515094 8 63377888 63387600 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627966 S 1414 0 1 NKAIN3 esv29132 8 63377899 63387639 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18522 S 451 0 8 NKAIN3 NA18508,NA18523,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225 nsv499495 8 63377903 63387785 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586086 S 9 0 1 NKAIN3 dgv891n27 8 63378169 63385435 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465699,nsv465700 M 1557 0 2 NKAIN3 HGDP00915,HGDP01286 nsv517136 8 63378169 63385435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672099,nssv668073,nssv676332,nssv669988,nssv658688,nssv682076,nssv667167,nssv666886,nssv659212,nssv660947,nssv687468,nssv672340,nssv693971,nssv660856,nssv668826,nssv685324,nssv692393,nssv653876,nssv669206,nssv671384,nssv658275,nssv692137,nssv653841,nssv656716,nssv656373,nssv692042,nssv654337,nssv659792,nssv668194,nssv680949,nssv693122 M 2026 0 31 NKAIN3 nsv818634 8 63378169 63385435 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415861,nssv1416758,nssv1416571,nssv1416574,nssv1416573 M 112 0 5 NKAIN3 NA19141,NA19160,NA19171,NA19172,NA19173 esv2421340 8 63378169 63386639 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028478,essv5097971,essv5052086,essv5015902,essv5129629,essv5032898,essv5040965,essv5043155,essv5063713,essv5144114,essv5101743,essv5090419,essv5050081,essv5130827,essv5024496,essv5095556,essv5070732,essv5159945,essv5152185,essv5137416,essv5103457,essv5018739,essv5126667,essv5036330,essv5108914,essv5021676,essv5019449,essv5131399,essv5094993,essv5112593,essv5076629,essv5040017,essv5046191,essv5081715,essv5149626,essv5046285,essv5135024,essv5010736,essv5126796,essv5135338,essv5118261,essv5047842,essv5150773,essv5149413,essv5031516,essv5006916,essv5112628,essv5086933,essv5017154,essv5071803,essv5105698,essv5033755,essv5092340,essv5149408,essv5092439,essv5057055,essv5084614,essv5048321,essv5091499,essv5103721,essv5132249,essv5032207,essv5064526,essv5056860,essv5026870,essv5032583,essv5071028,essv5107680,essv5088482,essv5045805,essv5024762,essv5153254,essv5115890,essv5033485,essv5110070,essv5010729,essv5157637,essv5105355,essv5028163,essv5051209,essv5100595,essv5146072,essv5062499,essv5128162,essv5089813,essv5053542,essv5127866,essv5006827,essv5030327,essv5124393,essv5024843,essv5087140,essv5161043,essv5155085,essv5149075,essv5121056,essv5008696,essv5013927,essv5081941,essv5125881,essv5051370,essv5065614,essv5110003,essv5082464,essv5144584,essv5079441,essv5002949,essv5152551,essv5076619,essv5056856,essv5025215,essv5011829,essv5071439,essv5077331,essv5101497,essv5013769,essv5055264,essv5038437,essv5022012,essv5112364,essv5023809,essv5012112,essv5062983 M 1184 0 123 NKAIN3 NA18484,NA18485,NA18486,NA18487,NA18488,NA18497,NA18499,NA18501,NA18507,NA18508,NA18511,NA18855,NA18857,NA18859,NA18860,NA18868,NA18870,NA18872,NA18873,NA18874,NA18909,NA18910,NA18911,NA18913,NA18923,NA18925,NA19027,NA19028,NA19031,NA19038,NA19046,NA19095,NA19096,NA19097,NA19099,NA19108,NA19109,NA19117,NA19130,NA19132,NA19137,NA19139,NA19141,NA19146,NA19148,NA19149,NA19151,NA19153,NA19154,NA19160,NA19171,NA19172,NA19173,NA19176,NA19179,NA19180,NA19182,NA19184,NA19186,NA19190,NA19197,NA19199,NA19200,NA19213,NA19215,NA19223,NA19225,NA19238,NA19310,NA19311,NA19313,NA19334,NA19352,NA19372,NA19381,NA19383,NA19384,NA19394,NA19403,NA19404,NA19428,NA19429,NA19430,NA19436,NA19439,NA19440,NA19443,NA19451,NA19455,NA19467,NA19471,NA19474,NA19625,NA19701,NA19703,NA19704,NA19705,NA19711,NA19712,NA19714,NA19756,NA19757,NA19760,NA19834,NA19836,NA19901,NA19902,NA19985,NA20282,NA20291,NA20301,NA20302,NA20349,NA20350,NA21379,NA21381,NA21399,NA21405,NA21583,NA21616,NA21619,NA21719,NA21776 nsv818635 8 63378169 63408237 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416853 S 112 0 1 NKAIN3 NA19238 nsv442520 8 63380105 63386639 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 NKAIN3 essv101797 8 63383363 63389851 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis Not Provided "" S 270 0 1 Samples from several populations that are part of the HapMap project. NKAIN3 NA19238 nsv890956 8 63414194 63508974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542301 S 6533 0 1 NKAIN3 MS15749 esv32676 8 63419477 63421608 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99821 S 51 0 1 NKAIN3 22086 nsv890957 8 63429199 63473475 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500300 S 6533 0 1 NKAIN3 SP50649 nsv890958 8 63440763 63490044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503925 S 6533 0 1 NKAIN3 SP52131 esv21736 8 63467065 63468161 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16812 S 451 1 0 NKAIN3 NA12828 nsv831339 8 63475003 63663681 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447139 S 95 1 0 NKAIN3 esv275026 8 63486037 63491429 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586061 S 1250 0 1 NKAIN3 esv270215 8 63507001 63507345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546448,essv2542515,essv2553935,essv2569316,essv2523537,essv2552963,essv2566076,essv2553179,essv2559360,essv2569006,essv2562333,essv2539294,essv2543202,essv2526831,essv2526676,essv2568631,essv2560350,essv2551470 M 157 18 0 Samples from several populations that are part of the HapMap project. NKAIN3 NA11881,NA11919,NA12287,NA18508,NA18537,NA18542,NA18572,NA18605,NA18638,NA18861,NA18909,NA18912,NA18965,NA19005,NA19114,NA19147,NA19190,NA19257 nsv6226 8 63541269 63574484 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1748 S 9 1 0 NKAIN3 NA18555 esv27863 8 63585891 63587253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14687 S 451 0 1 NKAIN3 NA19108 nsv890959 8 63611710 63678076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557000 S 6533 0 1 NKAIN3 MS22322 esv1466080 8 63623935 63623935 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358487 S 2 1 0 NKAIN3 HuRef esv2150762 8 63656861 63657290 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811329 S 1 0 1 NKAIN3 NA18507 nsv396044 8 63656931 63656994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414622 M 24 NKAIN3 nsv831340 8 63677680 63865214 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447141 S 95 0 1 NKAIN3 nsv890960 8 63679516 63792103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591414 S 6533 0 1 NKAIN3 IS38810 nsv831341 8 63821248 64014767 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447142 S 95 0 1 NKAIN3 esv2422825 8 63867278 63868302 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355533 S 1 1 0 NKAIN3 NA18507 esv1237672 8 63867642 63867642 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365957 S 2 1 0 NKAIN3 HuRef nsv398473 8 63867643 63867643 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417051 M 24 NKAIN3 nsv521804 8 63867792 63920624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694574 S 2026 0 1 NKAIN3 nsv890961 8 63871073 63936341 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575456 S 6533 0 1 NKAIN3 IS33747 nsv890962 8 63871073 63975240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578953 S 6533 0 1 NKAIN3 IS34996 nsv398476 8 63934635 63942003 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417054 M 24 NKAIN3 nsv398074 8 63945328 63945328 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416652 M 24 NKAIN3 esv23915 8 63968643 63971640 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16597 S 451 0 2 NKAIN3 NA15510,NA19190 nsv890963 8 64009026 64047654 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550433 S 6533 1 0 NKAIN3 MS18431 nsv515602 8 64010852 64011110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664055,nssv685005,nssv676951,nssv680950 M 2026 0 4 NKAIN3 nsv890964 8 64011110 64060700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579123,nssv1582117,nssv1581639 M 6533 0 3 NKAIN3,UG0898H09 IS35018,IS35675,IS35789 nsv6227 8 64054641 64099506 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8503 S 9 0 1 GGH,NKAIN3,UG0898H09 NA12156 esv2625263 8 64122889 64129051 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280982 S 1 0 1 "" NA18507 nsv890965 8 64168755 64266646 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588207,nssv1550434 M 6533 1 1 YTHDF3 IS38176,MS18431 nsv523048 8 64179435 64186259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698731 S 2026 0 1 "" nsv523317 8 64182386 64186259 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699059 S 2026 0 1 "" nsv522934 8 64182386 64192456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698597 S 2026 0 1 "" nsv527503 8 64190953 64192456 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703953 S 2026 0 1 "" nsv395793 8 64198865 64198994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414371 M 24 "" esv27546 8 64221992 64227630 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9765 S 451 1 0 "" NA19257 nsv890966 8 64236204 64261794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518153 S 6533 0 1 YTHDF3 SP57469 nsv831342 8 64246885 64457495 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447143,nssv1447152,nssv1447146,nssv1447145,nssv1447150,nssv1447148,nssv1447147,nssv1447149,nssv1447144 M 95 9 0 YTHDF3 nsv890967 8 64270401 64617000 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587301 S 6533 1 0 YTHDF3 IS38006 esv2020082 8 64307250 64307865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4561532 S 1 0 1 "" NA18507 esv4700 8 64316944 64318739 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27141 S 1 0 1 Single Asian sample YH "" YH nsv890968 8 64361434 64390426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499840 S 6533 0 1 "" SP50107 esv996121 8 64365444 64368769 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564182 S 3 0 1 "" HuRef nsv6228 8 64415045 64416114 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9752 S 9 1 0 "" NA18507 nsv6229 8 64444572 64489084 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1749 S 9 0 1 "" NA18555 esv268354 8 64452112 64452197 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513828 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv831343 8 64598822 64804882 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447153 S 95 1 0 "" nsv831344 8 64820783 64874892 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447191,nssv1447190,nssv1447161,nssv1447189,nssv1447178,nssv1447160,nssv1447158,nssv1447192,nssv1447193,nssv1447154,nssv1447159,nssv1447157,nssv1447156,nssv1447155,nssv1447186,nssv1447169,nssv1447164,nssv1447165,nssv1447188,nssv1447163,nssv1447168,nssv1447166,nssv1447167,nssv1447172,nssv1447170,nssv1447171,nssv1447187,nssv1447174,nssv1447177,nssv1447176,nssv1447175,nssv1447180,nssv1447179,nssv1447181,nssv1447182,nssv1447183 M 95 0 36 LOC286184 esv1007352 8 64871105 64878383 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563656 S 3 0 1 "" HuRef esv2584717 8 64931770 64933072 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359924 S 1 0 1 "" NA18507 esv3679 8 64932090 64932587 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26120 S 1 0 1 Single Asian sample YH "" YH esv2106084 8 64932163 64932619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577517 S 1 0 1 "" NA18507 esv1004244 8 64932263 64932386 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583663 S 3 0 1 "" HuRef esv1137659 8 64932388 64932512 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4254937 S 2 0 1 "" HuRef esv1152910 8 64940358 64940358 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615650 S 2 1 0 "" HuRef nsv8357 8 64946114 65014629 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19737 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv890969 8 64969698 65209907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582087 S 6533 0 1 "" IS35788 nsv526321 8 65006365 65009964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702609 S 2026 0 1 "" nsv438061 8 65012004 65013235 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469989,nssv469988 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19131,NA19132 esv987919 8 65072260 65073185 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565448 S 3 0 1 "" HuRef esv2472359 8 65072392 65074002 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292857 S 1 0 1 "" NA18507 esv1107342 8 65072990 65073338 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3967209 S 2 0 1 "" HuRef nsv890970 8 65138020 65287849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539322 S 6533 0 1 "" MS14296 nsv890971 8 65191368 65404720 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582746 S 6533 0 1 "" IS36131 esv3949 8 65225894 65226197 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26390 S 1 0 1 Single Asian sample YH "" YH nsv438062 8 65278431 65280359 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469991,nssv469990 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10861,NA11994 esv2518193 8 65304147 65304447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326487 S 1 0 1 "" NA18507 nsv507470 8 65397973 65403973 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617770 S 4 1 0 "" CHM nsv6230 8 65405123 65435790 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9462 S 9 0 1 "" NA18517 esv27216 8 65407011 65419545 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9759 S 451 0 2 "" NA18517,NA19108 nsv515095 8 65407248 65418700 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627967 S 1414 0 1 "" esv2421436 8 65409538 65420057 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5095529,essv5060878,essv5128641,essv5151445,essv5091682,essv5004377,essv5137707,essv5028281,essv5027363,essv5073345,essv5133710,essv5011269,essv5122891,essv5028355,essv5051701,essv5012682,essv5156868,essv5142264,essv5065001,essv5037396,essv5052932,essv5143034,essv5037628,essv5033914,essv5125120,essv5027912,essv5080304,essv5005111,essv5063484,essv5028384,essv5127267,essv5129312,essv5036350,essv5114700,essv5153131,essv5142600,essv5005333,essv5063943,essv5099058,essv5013133,essv5039396,essv5060379,essv5020789,essv5047433,essv5150198,essv5022048,essv5135385,essv5099867,essv5121695,essv5014899,essv5027705 M 1184 0 51 "" NA18486,NA18498,NA18517,NA18857,NA18871,NA18917,NA18930,NA19028,NA19095,NA19097,NA19108,NA19109,NA19235,NA19310,NA19317,NA19318,NA19324,NA19332,NA19334,NA19350,NA19375,NA19376,NA19381,NA19396,NA19440,NA19446,NA19455,NA19456,NA19908,NA19914,NA19915,NA19921,NA19982,NA21352,NA21355,NA21378,NA21388,NA21389,NA21414,NA21418,NA21439,NA21447,NA21457,NA21488,NA21490,NA21491,NA21510,NA21523,NA21525,NA21582,NA21768 nsv442110 8 65409538 65420057 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516030 8 65413437 65418673 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693951,nssv684949,nssv665815,nssv677009,nssv672100,nssv672341 M 2026 0 6 "" nsv523097 8 65446245 65458045 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698789 S 2026 0 1 LOC100130155,MIR124-2 nsv510149 8 65569960 65575960 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622163 S 4 0 1 "" NA10860 nsv507471 8 65621018 65627018 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621918,nssv623047 M 4 2 0 "" NA10860,NA18994 nsv6231 8 65701147 65746177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8505 S 9 0 1 CYP7B1 NA12156 esv1348104 8 65761383 65761432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650169 S 2 0 1 CYP7B1 HuRef esv1348944 8 65761535 65761584 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661251 S 2 0 1 CYP7B1 HuRef esv2461407 8 65909232 65910695 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242853 S 1 0 1 "" NA18507 esv1010420 8 66028746 66032468 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564467 S 3 0 1 "" HuRef nsv890972 8 66077344 66218027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561834 S 6533 0 1 "" MS25250 esv2429869 8 66114968 66115712 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374715 S 1 1 0 "" NA18507 nsv831345 8 66151383 66325607 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447195,nssv1447194,nssv1447197 M 95 0 3 LINC00251 esv2752261 8 66151700 66463034 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986172,essv6986171,essv6982438,essv6982437,essv6982436 M 771 1 0 LINC00251 BEC_442 nsv397355 8 66221408 66223855 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415933 M 24 "" nsv508511 8 66226085 66251788 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622597 S 4 0 1 LINC00251 NA18994 dgv58n50 8 66254260 66257661 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512050,nsv511388 M 1 0 1 LINC00251 1 esv26275 8 66254405 66257162 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16647 S 451 0 6 LINC00251 NA18502,NA18858,NA19099,NA19114,NA19225,NA19240 dgv7802n71 8 66254869 66354162 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890973,nsv890974 M 6533 2 0 LINC00251 MS12109,MS19483 dgv41e194 8 66473727 66474223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2282819,esv2253779 M 1 0 1 "" NA18507 nsv471756 8 66473886 66474072 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646037 M 1.108 95 "" esv1003992 8 66473903 66474023 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576081 S 3 0 1 "" HuRef esv1520385 8 66473905 66474026 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039783 S 2 0 1 "" HuRef esv269027 8 66514622 66514959 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510547,essv2494366,essv2493217,essv2501108,essv2505830,essv2507349,essv2495644,essv2498840,essv2497533,essv2499616 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18504,NA18516,NA18861,NA18912,NA18916,NA19138,NA19147,NA19225 nsv510150 8 66516348 66522348 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622164 S 4 0 1 "" NA10860 nsv397599 8 66611712 66613094 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416177 M 24 LOC286186 nsv398101 8 66694929 66695588 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416679 M 24 ARMC1 nsv398351 8 66695598 66697801 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416929 M 24 ARMC1 esv1024224 8 66730766 66730766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163188 S 2 1 0 MTFR1 HuRef nsv395879 8 66794286 66798330 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414457 M 24 PDE7A nsv395873 8 66798410 66799042 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414451 M 24 PDE7A dgv247n6 8 66799141 66799567 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv395822,nsv395829 M 24 PDE7A dgv248n6 8 66799710 66801666 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv395858,nsv395821 M 24 PDE7A nsv395795 8 66801756 66801958 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414373 M 24 PDE7A nsv395893 8 66809684 66814290 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414471 M 24 PDE7A nsv6233 8 66824538 66857499 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1750 S 9 1 0 PDE7A NA18555 esv29307 8 66922040 66922918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16780 S 451 0 3 "" NA07045,NA12287,NA12776 nsv6234 8 67029785 67050627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3657 S 9 1 0 "" NA12878 esv2591216 8 67190795 67191901 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190013 S 1 1 0 "" NA18507 esv1737567 8 67191466 67191466 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3623116 S 2 1 0 "" HuRef esv23287 8 67283444 67284234 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13418 S 451 0 1 "" NA12489 nsv521159 8 67283489 67283897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683203,nssv684978 M 2026 0 2 "" nsv6235 8 67350635 67395291 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8506 S 9 0 1 "" NA12156 esv2064601 8 67358136 67358484 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855167 S 1 0 1 "" NA18507 esv1007778 8 67450798 67452927 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586621 S 3 0 1 "" HuRef esv1591897 8 67451161 67451161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027781 S 2 1 0 "" HuRef nsv397030 8 67451593 67451706 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415608 M 24 "" esv1006043 8 67451755 67451868 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578796 S 3 0 1 "" HuRef esv1220587 8 67451857 67451971 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858082 S 2 0 1 "" HuRef nsv396912 8 67451931 67452044 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415490 M 24 "" nsv6236 8 67521866 67566535 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5097 S 9 0 1 ADHFE1 NA19129 nsv6237 8 67527076 67561603 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3658 S 9 1 0 ADHFE1 NA12878 nsv465702 8 67538073 67547642 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541454 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADHFE1 HGDP01009 nsv395880 8 67544439 67544439 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414458 M 24 "" nsv395907 8 67567524 67567634 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414485 M 24 "" nsv516599 8 67586551 67594660 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670792,nssv672649,nssv670085,nssv676705,nssv661163,nssv669463,nssv674761,nssv684979 M 2026 0 8 C8orf46 nsv831346 8 67649109 67837878 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447198 S 95 0 1 C8orf44,C8orf44-SGK3,MYBL1,SGK3,VCPIP1 esv994614 8 67687374 67687847 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586834 S 3 0 1 MYBL1 HuRef esv997781 8 67737482 67737859 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574828 S 3 0 1 VCPIP1 HuRef nsv6238 8 67846111 67865508 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5098 S 9 1 0 C8orf44-SGK3,SGK3 NA19129 esv2466698 8 67846442 67847008 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388673 S 1 1 0 C8orf44-SGK3,SGK3 NA18507 esv1319586 8 67846944 67846944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037655 S 2 1 0 C8orf44-SGK3,SGK3 HuRef esv2062022 8 67850467 67850876 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4890431 S 1 0 1 C8orf44-SGK3,SGK3 NA18507 nsv6239 8 67894273 67928447 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3659 S 9 1 0 C8orf44-SGK3,SGK3 NA12878 nsv890975 8 68146350 68194612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513950 S 6533 0 1 CSPP1 SP55878 nsv438063 8 68152555 68155980 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv469999,nssv469995,nssv469998,nssv470000,nssv469994,nssv469996,nssv469993,nssv469992 M 269 0 8 Samples from several populations that are part of the HapMap project. CSPP1 NA18861,NA19100,NA19116,NA19119,NA19120,NA19130,NA19141,NA19211 esv2197789 8 68155764 68156269 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4722216 S 1 0 1 CSPP1 NA18507 esv7037 8 68304159 68304263 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29478 S 1 1 0 ARFGEF1 SJK esv23466 8 68319392 68324342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10673 S 451 0 2 ARFGEF1 NA18861,NA19225 esv2752263 8 68333500 68951047 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986267,essv6986268,essv6982809,essv6982808,essv6988587 M 771 1 0 ARFGEF1,CPA6 BEC_596 esv2578987 8 68394683 68396119 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5336905 S 1 0 1 ARFGEF1 NA18507 esv2752264 8 68407100 68809755 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986207,essv6988557,essv6986208,essv6982597,essv6982596 M 771 1 0 ARFGEF1,CPA6 BEC_569 nsv518005 8 68475372 68482222 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695418 S 2026 0 1 "" nsv6240 8 68594220 68628110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8507 S 9 1 0 CPA6 NA12156 nsv437625 8 68704404 68716767 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467506 S 60 0 1 Samples from several populations that are part of the HapMap project. CPA6 NA19145 nsv8359 8 68708618 68717788 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21390 S 31 0 1 Samples from several populations that are part of the HapMap project. CPA6 NA19221 esv26383 8 68709312 68714117 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11073 S 451 0 1 CPA6 NA19114 nsv442521 8 68710013 68712760 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CPA6 esv2421618 8 68710013 68713064 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027391,essv5013050,essv5002791,essv5088044,essv5082202,essv5026985,essv5141910,essv5116848,essv5160016,essv5016452,essv5090685,essv5030815,essv5002325,essv5117981,essv5008334,essv5083620,essv5129873,essv5010984,essv5023419,essv5102928,essv5084487,essv5154469,essv5053958,essv5071477,essv5109114,essv5131358,essv5158577,essv5022018,essv5039996,essv5109485,essv5047529,essv5006188,essv5019312,essv5070318,essv5067071,essv5144208,essv5081948,essv5099183,essv5031828,essv5106918,essv5096812,essv5042143,essv5062639,essv5057190,essv5115915,essv5091504,essv5154167,essv5144111,essv5154384,essv5072826,essv5087649,essv5011591,essv5106526,essv5081394,essv5024368,essv5077232,essv5027428,essv5154282 M 1184 0 58 CPA6 NA18484,NA18486,NA18489,NA18497,NA18499,NA18852,NA18854,NA18867,NA18917,NA18923,NA18924,NA18925,NA19093,NA19101,NA19103,NA19113,NA19114,NA19115,NA19116,NA19120,NA19143,NA19152,NA19179,NA19184,NA19186,NA19204,NA19221,NA19223,NA19224,NA19226,NA19327,NA19379,NA19391,NA19435,NA19444,NA19448,NA19462,NA19466,NA19472,NA19703,NA19749,NA19819,NA19921,NA20126,NA20300,NA20317,NA20335,NA20336,NA21339,NA21364,NA21385,NA21448,NA21453,NA21478,NA21493,NA21494,NA21597,NA21678 nsv515097 8 68710024 68712632 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627968 S 1414 0 1 CPA6 esv268044 8 68762211 68762516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504133 S 157 1 0 Samples from several populations that are part of the HapMap project. CPA6 NA18505 nsv524930 8 68828486 68839502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700943 S 2026 0 1 "" esv2462838 8 68889193 68890803 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383471 S 1 0 1 "" NA18507 esv2065097 8 68889694 68890393 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4959901 S 1 0 1 "" NA18507 esv4326 8 68889774 68890421 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26767 S 1 0 1 Single Asian sample YH "" YH esv8586 8 68889881 68890211 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31027 S 1 0 1 "" SJK nsv831347 8 69012104 69196458 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447199 S 95 1 0 PREX2 nsv6241 8 69048506 69077898 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11187 S 9 1 0 PREX2 NA15510 esv1007762 8 69056227 69056769 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586750 S 3 1 0 PREX2 HuRef esv26870 8 69056283 69056928 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11444 S 451 0 1 PREX2 NA12878 esv26684 8 69066607 69067601 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20020 S 451 0 1 PREX2 NA12006 dgv1187n67 8 69068070 69068640 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824662,nsv824665,nsv824663 M 31 0 6 PREX2 AK18,AK8,NA18566,NA18949,NA18997,NA18999 nsv507472 8 69072401 69078401 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620420,nssv617771,nssv621919 M 4 3 0 PREX2 CHM,NA10860,NA15510 esv269928 8 69144329 69144659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558097,essv2575852,essv2540982,essv2571656,essv2546566,essv2521075,essv2542550,essv2536590,essv2543797,essv2556594,essv2568229,essv2545364,essv2523284,essv2577571,essv2570471,essv2521781,essv2576798,essv2525538,essv2550289,essv2535038,essv2554194,essv2551982,essv2520727,essv2547156,essv2529353,essv2558651,essv2564723,essv2577984,essv2553618,essv2559672,essv2565332,essv2576496,essv2564147,essv2555122,essv2530676,essv2561937,essv2537216,essv2528625,essv2520870,essv2557007,essv2552690,essv2551765,essv2532398,essv2569469,essv2539182,essv2569652,essv2561417,essv2544972,essv2523880,essv2552821,essv2542651,essv2534897,essv2549378,essv2566030,essv2531242,essv2532630,essv2541592,essv2570340,essv2559317,essv2550988,essv2543425,essv2539306,essv2578153,essv2573249,essv2555462,essv2533580,essv2527580,essv2522331,essv2531646,essv2543220,essv2526873,essv2529532,essv2575475,essv2575271,essv2526692,essv2560662,essv2574812,essv2530407,essv2568605,essv2560166,essv2549865,essv2571234,essv2545803,essv2574266,essv2551429,essv2538023,essv2548750,essv2554387,essv2547715,essv2524876 M 157 90 0 Samples from several populations that are part of the HapMap project. PREX2 NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11830,NA11831,NA11840,NA11881,NA11894,NA11919,NA11920,NA11992,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA18498,NA18501,NA18502,NA18504,NA18505,NA18508,NA18519,NA18520,NA18523,NA18526,NA18537,NA18542,NA18550,NA18561,NA18564,NA18572,NA18573,NA18576,NA18592,NA18593,NA18638,NA18858,NA18870,NA18912,NA18940,NA18942,NA18943,NA18944,NA18952,NA18960,NA18961,NA18965,NA19005,NA19093,NA19099,NA19102,NA19114,NA19116,NA19138,NA19141,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272376 8 69144329 69144659 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582171,essv2582582,essv2583210,essv2584251,essv2584534 M 7 5 0 Samples from several populations that are part of the HapMap project. PREX2 NA12878,NA12891,NA12892,NA19238,NA19239 nsv396660 8 69167044 69167044 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415238 M 24 PREX2 nsv396474 8 69190344 69190393 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415052 M 24 PREX2 nsv512051 8 69259425 69261314 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624603 S 1 0 1 PREX2 1 esv2472681 8 69260039 69261634 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314740 S 1 0 1 PREX2 NA18507 esv1972864 8 69260299 69261041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720867 S 1 0 1 PREX2 NA18507 esv1003125 8 69260417 69260877 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586941 S 3 0 1 PREX2 HuRef nsv819415 8 69260432 69260922 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418973 S 2 1 0 PREX2 AK1 nsv471757 8 69260455 69260908 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646038 M 0.357 95 PREX2 nsv890976 8 69262624 69318117 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582644 S 6533 0 1 PREX2 IS36065 esv259430 8 69292568 69292831 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394146 S 6 0 0 Samples from several populations that are part of the HapMap project. PREX2 NA12878 esv259780 8 69292583 69292858 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397300,essv2396487,essv2399451,essv2397951,essv2397511,essv2398194 M 144 0 0 Samples from several populations that are part of the HapMap project. PREX2 NA12878,NA18517,NA18858,NA18907,NA18947,NA18949 nsv6242 8 69332480 69362988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5099 S 9 1 0 "" NA19129 dgv7803n71 8 69335603 69399272 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890978,nsv890977 M 6533 3 0 LOC286189 IS31074,IS33027,IS38607 dgv7804n71 8 69338708 69414971 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv890979,nsv890980 M 6533 0 2 C8orf34,LOC286189 IS33811,MS25669 esv22091 8 69347878 69351357 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15880 S 451 3 0 "" NA18916,NA19099,NA19129 nsv519469 8 69348080 69348830 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673594,nssv688456,nssv656294,nssv663294,nssv660005 M 2026 5 0 "" nsv508512 8 69431348 69487086 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618834 S 4 0 1 C8orf34 NA10860 esv2088334 8 69476232 69476646 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4837650 S 1 0 1 C8orf34 NA18507 nsv820237 8 69490358 69506817 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418662 S 2 1 0 C8orf34 AK1 nsv890981 8 69575664 69697096 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513951 S 6533 0 1 C8orf34 SP55878 esv2587232 8 69579672 69581213 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173117 S 1 0 1 C8orf34 NA18507 esv2178446 8 69580028 69580744 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992792 S 1 0 1 C8orf34 NA18507 nsv397515 8 69580222 69580543 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416093 M 24 C8orf34 nsv890982 8 69583465 69631468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550435 S 6533 1 0 C8orf34 MS18431 nsv890983 8 69609893 69665616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517852 S 6533 0 1 C8orf34 SP57379 nsv890984 8 69645379 69718665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577427,nssv1600806 M 6533 0 2 C8orf34 IS34440,IS41926 nsv520587 8 69692982 69698176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697505 S 2026 0 1 C8orf34 nsv890985 8 69694807 69748588 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550436 S 6533 1 0 C8orf34 MS18431 nsv831349 8 69718015 69896069 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447200,nssv1447201 M 95 2 0 C8orf34 esv269339 8 69749646 69749731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519130 S 157 1 0 Samples from several populations that are part of the HapMap project. C8orf34 NA19141 nsv818636 8 69799153 69804759 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417895 S 112 1 0 C8orf34 NA18852 nsv465703 8 69803841 69977132 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541455 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf34 HGDP01169 nsv890986 8 69810468 69866920 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554449 S 6533 0 1 C8orf34 MS20813 nsv519549 8 69844942 69850406 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688898,nssv656830,nssv683154 M 2026 3 0 C8orf34 esv27776 8 69852323 69852800 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12063 S 451 0 1 C8orf34 NA19190 nsv470214 8 69907620 69977131 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546733 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00950 nsv465704 8 69907620 69977132 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541456 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00950 nsv523414 8 69924814 69927069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699165 S 2026 0 1 "" esv1001143 8 69979585 69981124 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564026 S 3 1 0 "" HuRef esv1418572 8 69980935 69980935 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947249 S 2 1 0 "" HuRef esv1091855 8 69981007 69981007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238807 S 2 1 0 "" HuRef esv1560571 8 69981392 69981392 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4028226 S 2 1 0 "" HuRef esv1777114 8 69981439 69981439 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3933852 S 2 1 0 "" HuRef esv1703651 8 69981486 69981486 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4033792 S 2 1 0 "" HuRef esv33049 8 69999367 70105914 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99024 S 51 1 0 LOC100505718 21938 esv33773 8 70113797 70114754 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99407 S 51 1 0 LOC100505718 22335 nsv890987 8 70121659 70167252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550437 S 6533 1 0 LOC100505718 MS18431 esv2583509 8 70234855 70235383 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289020 S 1 1 0 "" NA18507 nsv512957 8 70234956 70235850 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625609 S 1 1 0 "" 1 nsv890988 8 70286276 70414377 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558713 S 6533 0 1 "" MS23495 nsv437626 8 70362698 70372315 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467507 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 nsv515701 8 70364259 70368717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664963,nssv689076,nssv669178,nssv686657,nssv671162,nssv669327,nssv664464,nssv669949,nssv686326,nssv681631,nssv659318,nssv688058,nssv680405,nssv655802 M 2026 0 14 "" nsv890989 8 70378065 70450758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553078 S 6533 0 1 "" MS19721 nsv519220 8 70392524 70416984 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696710 S 2026 1 0 "" nsv528599 8 70398027 70400478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705225 S 2026 0 1 "" nsv518901 8 70398027 70416984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696359 S 2026 0 1 "" nsv518857 8 70414584 70416984 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696311 S 2026 0 1 "" esv28296 8 70482794 70487757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20069 S 451 0 1 "" NA12828 esv2426178 8 70496382 70498213 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253706 S 1 0 1 "" NA18507 nsv398144 8 70519876 70520191 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416722 M 24 "" esv1939300 8 70520140 70520686 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849276 S 1 0 1 "" NA18507 esv6038 8 70520189 70520497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28479 S 1 0 1 "" SJK esv268742 8 70586289 70586374 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514047 S 157 1 0 Samples from several populations that are part of the HapMap project. SULF1 NA12043 dgv892n27 8 70586825 70627467 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465707,nsv465706 M 1557 2 0 SULF1 HGDP00952,HGDP00961 nsv890990 8 70599770 70627467 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550438 S 6533 1 0 SULF1 MS18431 nsv890991 8 70607917 70666473 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555502,nssv1580040 M 6533 0 2 SULF1 IS35227,MS21397 nsv890992 8 70627467 70732224 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544670 S 6533 0 1 SULF1 MS16419 dgv92n68 8 70634717 70820687 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831351,nsv831350 M 95 0 3 SLCO5A1,SULF1 esv2282827 8 70700867 70701231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4836630 S 1 0 1 SULF1 NA18507 nsv6244 8 70741850 70776656 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8508 S 9 0 1 SLCO5A1 NA12156 esv22621 8 70782169 70795966 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18265 S 451 1 0 SLCO5A1 NA18502 esv33249 8 70807060 70857490 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98325 S 51 0 1 SLCO5A1 21772 esv5772 8 70878382 70878477 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28213 S 1 1 0 SLCO5A1 SJK nsv520987 8 70932975 70933356 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697723 S 2026 0 1 "" nsv890993 8 70934642 70990827 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557526 S 6533 0 1 "" MS22742 nsv824666 8 70962513 70981586 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436790 S 31 1 0 "" NA18542 nsv818637 8 70967071 70980566 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417154 S 112 1 0 "" NA18542 nsv465709 8 70980566 71020425 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541460 S 1557 1 0 "" 1780862461_A nsv527289 8 70990827 71175365 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703704 S 2026 1 0 PRDM14 nsv819093 8 71000881 71007194 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419765 S 2 0 1 "" AK1 nsv528527 8 71000949 71011268 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705138 S 2026 0 1 "" nsv6245 8 71001509 71035499 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv737 S 9 1 0 "" NA19240 esv28311 8 71020905 71027198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13006 S 451 1 0 "" NA11993 nsv508513 8 71022975 71188097 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620011 S 4 0 1 NCOA2,PRDM14 NA15510 esv1000906 8 71035543 71051717 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564661 S 3 0 0 "" HuRef nsv521702 8 71045914 71053342 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698325 S 2026 0 1 "" nsv831352 8 71074337 71257395 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447205 S 95 1 0 NCOA2,PRDM14 nsv465710 8 71108153 71124068 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541461 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00656 nsv470215 8 71108153 71124068 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546734 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00656 nsv438064 8 71109832 71123983 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470001,nssv470002 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18913,NA18914 nsv6246 8 71181305 71211837 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1751 S 9 1 0 NCOA2 NA18555 nsv6247 8 71192903 71237806 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8509 S 9 0 1 NCOA2 NA12156 nsv397839 8 71275847 71278050 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416417 M 24 NCOA2 nsv6248 8 71351788 71396674 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8510 S 9 0 1 NCOA2 NA12156 dgv7805n71 8 71403032 71675684 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv890995,nsv890994 M 6533 2 0 NCOA2,TRAM1 SP55774,SP81437 nsv521190 8 71505331 71506986 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690426,nssv684246 M 2026 0 2 "" nsv890996 8 71506986 71626941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512363 S 6533 1 0 "" SP55462 esv23567 8 71614312 71615045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18129 S 451 0 1 "" NA18508 esv272645 8 71646791 71647407 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580642 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv272687 8 71716781 71717558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581562 S 7 1 0 Samples from several populations that are part of the HapMap project. LACTB2,LOC286190 NA12878 nsv890997 8 71717270 71917592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529073 S 6533 0 1 LACTB2,LOC286190,XKR9 SP81438 esv2493520 8 71745494 71747747 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337612 S 1 0 1 XKR9 NA18507 nsv512052 8 71745907 71747425 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624604 S 1 0 1 XKR9 1 esv1992859 8 71745922 71747389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4697488 S 1 0 1 XKR9 NA18507 esv994889 8 71746125 71747333 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563814 S 3 0 1 XKR9 HuRef nsv6249 8 71768265 71774730 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1752 S 9 0 1 XKR9 NA18555 nsv520505 8 71778516 71779536 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697459 S 2026 0 1 XKR9 esv29673 8 71817510 71820228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16252 S 451 0 1 "" NA11931 esv2491408 8 71819049 71820472 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231526 S 1 0 1 "" NA18507 esv2045643 8 71819382 71820166 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571757 S 1 0 1 "" NA18507 esv269145 8 71913704 71913789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519160 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv273907 8 71937317 71937672 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578878,essv2579776 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270631 8 71937328 71937578 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521103,essv2570382,essv2547460,essv2520263,essv2557546,essv2557088,essv2569508,essv2561422,essv2568944,essv2528004,essv2529490,essv2526717,essv2560567,essv2574738,essv2530404,essv2568501,essv2545053,essv2545937,essv2574260,essv2551270,essv2536234 M 157 21 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11894,NA12044,NA12717,NA12815,NA18499,NA18501,NA18508,NA18523,NA18861,NA18907,NA19093,NA19114,NA19116,NA19138,NA19141,NA19147,NA19172,NA19239,NA19240,NA19257 nsv470216 8 72060927 72110066 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546736,nssv546735 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00617,HGDP00635 nsv465711 8 72060927 72125965 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541462 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00635 esv268234 8 72077099 72077461 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521071,essv2526154,essv2544207,essv2568358,essv2545341,essv2523282,essv2531807,essv2548386,essv2576595,essv2525291,essv2554132,essv2544315,essv2552022,essv2529320,essv2558566,essv2564676,essv2577754,essv2553626,essv2576304,essv2530825,essv2561876,essv2537633,essv2528324,essv2547034,essv2552440,essv2564938,essv2566788,essv2543519,essv2528175,essv2578447,essv2534259,essv2573661,essv2538626,essv2549731,essv2546044,essv2537995,essv2549110,essv2547946,essv2563494,essv2558105 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07347,NA10847,NA10851,NA11894,NA11918,NA11992,NA11995,NA12003,NA12004,NA12006,NA12045,NA12154,NA12156,NA12287,NA12414,NA12489,NA12749,NA12750,NA12751,NA12761,NA12763,NA12814,NA12873,NA12874,NA12878,NA12891,NA12892,NA18502,NA18558,NA18853,NA18870,NA18907,NA18940,NA18959,NA18964,NA19108,NA19225,NA19239 esv273486 8 72077103 72077463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584542,essv2583394 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv1036031 8 72077145 72077145 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022302 S 2 1 0 "" HuRef esv269586 8 72175695 72175885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503196,essv2513220,essv2510379,essv2503589 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11881,NA12249,NA12414 nsv890998 8 72362997 72381472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569275 S 6533 0 1 EYA1 IS31554 esv271923 8 72368561 72368913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514976,essv2517813,essv2513895,essv2519339 M 157 4 0 Samples from several populations that are part of the HapMap project. EYA1 NA07346,NA12812,NA12878,NA19143 esv274288 8 72368561 72368913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581532 S 7 1 0 Samples from several populations that are part of the HapMap project. EYA1 NA12878 esv1250988 8 72368611 72368611 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3650772 S 2 1 0 EYA1 HuRef esv1006917 8 72373185 72383811 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564687 S 3 0 1 EYA1 HuRef nsv521495 8 72373732 72379585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698109 S 2026 0 1 EYA1 nsv890999 8 72373732 72401189 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550439 S 6533 1 0 EYA1 MS18431 nsv8360 8 72376214 72380725 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17295,nssv18159,nssv19182,nssv16210,nssv17245,nssv17587 M 31 0 6 Samples from several populations that are part of the HapMap project. EYA1 NA11830,NA12740,NA12802,NA18502,NA18537,NA18980 dgv185e180 8 72377185 72380227 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004313,esv1009300 M 3 0 1 EYA1 HuRef dgv1188n67 8 72377185 72380317 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824668,nsv824667 M 31 0 3 EYA1 AK16,AK20,NA18537 esv28990 8 72377264 72380227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16055 S 451 0 13 EYA1 NA06985,NA07037,NA07045,NA11894,NA12004,NA12044,NA12239,NA12287,NA12749,NA12776,NA18502,NA18861,NA19108 nsv471758 8 72377270 72380484 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646039 M 0.696 95 EYA1 esv995470 8 72377301 72380363 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585402 S 3 0 1 EYA1 HuRef nsv515101 8 72377344 72379248 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627969 S 1414 0 1 EYA1 nsv819926 8 72377348 72380194 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419480 S 2 0 1 EYA1 AK1 esv32722 8 72377373 72380559 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101603,essv98878,essv101217,essv94399,essv96882,essv95817,essv98961,essv93000,essv96626,essv98651,essv99722,essv100342,essv99479,essv98382 M 51 0 14 EYA1 21603,21606,21618,21808,21817,21911,21938,21939,22011,22085,22217,22300,22335,22352 nsv442522 8 72377865 72379153 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EYA1 esv2421699 8 72377865 72380244 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5071202,essv5151034,essv5140372,essv5139130,essv5139533,essv5084757,essv5067403,essv5115620,essv5159231,essv5133204,essv5023935,essv5128279,essv5053771,essv5024693,essv5078559,essv5127040,essv5069079,essv5033769,essv5109905,essv5139201,essv5063134,essv5030014,essv5104673,essv5117443,essv5152163,essv5052356,essv5035807,essv5116325,essv5038766,essv5016644,essv5155318,essv5093105,essv5037938,essv5116318,essv5158990,essv5126420,essv5031559,essv5010661,essv5143983,essv5113866,essv5007330,essv5120695,essv5009443,essv5092055,essv5008590,essv5008888,essv5107783,essv5092088,essv5030417,essv5021067,essv5039242,essv5113340,essv5067792,essv5095452,essv5038849,essv5048892,essv5043576,essv5135181,essv5027213,essv5118293,essv5063932,essv5074105,essv5160758,essv5153454,essv5142183,essv5010322,essv5097030,essv5019690,essv5002708,essv5067871,essv5076518,essv5021777,essv5004158,essv5053272,essv5029107,essv5022333,essv5010011,essv5042868,essv5119109,essv5095995,essv5072423,essv5132456,essv5034076,essv5127595,essv5088916,essv5097368,essv5103441,essv5121785,essv5015710,essv5078441,essv5118046,essv5061033,essv5129643,essv5157770,essv5147199,essv5078295,essv5060173,essv5087503,essv5048906,essv5065856,essv5045995,essv5049913,essv5120197,essv5067625,essv5114151,essv5061371,essv5044522,essv5085975,essv5134339,essv5111595,essv5101667,essv5103188,essv5109371,essv5136511,essv5116112,essv5134690,essv5059113,essv5058581,essv5065770,essv5002705,essv5040111,essv5154642,essv5079898,essv5044160,essv5002044,essv5090584,essv5012870,essv5155000,essv5102365,essv5140781,essv5027734,essv5134327,essv5062586,essv5100759,essv5002096,essv5138815,essv5154560,essv5111083,essv5140382,essv5138910,essv5051153,essv5124756,essv5103968,essv5048773,essv5158663,essv5063628,essv5149256,essv5095084,essv5073524,essv5092362,essv5153583,essv5036705,essv5090736,essv5056361,essv5139524,essv5072356,essv5076570,essv5079713,essv5027624,essv5091777,essv5038890,essv5004867,essv5026963,essv5028835,essv5153886,essv5114615,essv5110766,essv5024005,essv5123633,essv5048585,essv5040228,essv5103066,essv5136298,essv5147415,essv5080515,essv5013570,essv5131250,essv5071226,essv5069467,essv5095631,essv5103029,essv5093600,essv5141168,essv5057080,essv5119932,essv5103867,essv5048380,essv5119688,essv5005886,essv5110816,essv5101911,essv5040863,essv5009237,essv5095015,essv5141705,essv5045914,essv5144419,essv5157976,essv5021366,essv5096677,essv5003986,essv5120272,essv5022969,essv5151913,essv5023769,essv5119996,essv5106398,essv5111685,essv5145381,essv5110522,essv5027548,essv5011169,essv5010407,essv5070074,essv5014491,essv5125833,essv5150333,essv5131059,essv5126458,essv5048191,essv5101367,essv5131695,essv5148836,essv5147204,essv5012061,essv5077979,essv5130255,essv5055077,essv5133649,essv5067637,essv5130219,essv5111465,essv5037332,essv5065329,essv5008329,essv5068227,essv5074701,essv5097026,essv5046593,essv5065161,essv5084791,essv5134190,essv5049590,essv5070948,essv5002216,essv5116263,essv5135220,essv5016300,essv5122811,essv5126481,essv5146895,essv5004668,essv5159674,essv5077377,essv5111038,essv5134604,essv5084034,essv5094447,essv5073525,essv5015681,essv5021952,essv5049568,essv5022636,essv5017852,essv5008832,essv5084894,essv5114902,essv5074567,essv5100314,essv5080240,essv5057518,essv5055210,essv5041352,essv5089657,essv5146244,essv5101409,essv5117074,essv5128406,essv5103911,essv5072520,essv5100148,essv5005059,essv5093366,essv5042934,essv5115633,essv5154813,essv5142240,essv5021989,essv5158124,essv5047805,essv5014896,essv5041264,essv5156972,essv5003497,essv5105697,essv5123006 M 1184 0 296 EYA1 NA06984,NA06985,NA06991,NA06994,NA06995,NA06997,NA07031,NA07037,NA07045,NA07051,NA07055,NA07346,NA07347,NA07348,NA07349,NA07357,NA10836,NA10837,NA10838,NA10840,NA10843,NA10846,NA10853,NA10855,NA10856,NA10859,NA10864,NA10865,NA11830,NA11832,NA11839,NA11843,NA11881,NA11891,NA11893,NA11894,NA11917,NA11918,NA11919,NA11930,NA12044,NA12145,NA12154,NA12239,NA12273,NA12275,NA12286,NA12287,NA12347,NA12400,NA12546,NA12708,NA12716,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12753,NA12760,NA12762,NA12766,NA12767,NA12776,NA12777,NA12801,NA12802,NA12813,NA12814,NA12832,NA12842,NA12889,NA17962,NA17967,NA17968,NA17970,NA17972,NA17974,NA17977,NA17980,NA17982,NA17983,NA17986,NA17987,NA17988,NA17993,NA17998,NA18101,NA18107,NA18108,NA18109,NA18118,NA18122,NA18132,NA18134,NA18143,NA18146,NA18148,NA18152,NA18153,NA18155,NA18158,NA18166,NA18500,NA18532,NA18534,NA18536,NA18537,NA18544,NA18548,NA18550,NA18555,NA18558,NA18559,NA18576,NA18594,NA18605,NA18616,NA18617,NA18619,NA18621,NA18630,NA18632,NA18637,NA18639,NA18640,NA18642,NA18647,NA18670,NA18674,NA18682,NA18694,NA18740,NA18861,NA18863,NA18870,NA18910,NA18911,NA18917,NA18930,NA18939,NA18943,NA18952,NA18955,NA18957,NA18963,NA18964,NA18978,NA18980,NA18981,NA18987,NA18993,NA19001,NA19002,NA19005,NA19010,NA19031,NA19054,NA19059,NA19062,NA19064,NA19072,NA19074,NA19087,NA19088,NA19098,NA19101,NA19108,NA19109,NA19116,NA19149,NA19151,NA19179,NA19180,NA19197,NA19199,NA19209,NA19211,NA19214,NA19223,NA19235,NA19236,NA19237,NA19313,NA19319,NA19371,NA19394,NA19468,NA19652,NA19653,NA19661,NA19669,NA19671,NA19676,NA19681,NA19682,NA19683,NA19716,NA19722,NA19750,NA19751,NA19771,NA19772,NA19779,NA19780,NA19789,NA19790,NA20279,NA20282,NA20284,NA20290,NA20297,NA20317,NA20319,NA20322,NA20334,NA20335,NA20336,NA20337,NA20342,NA20343,NA20345,NA20357,NA20502,NA20508,NA20512,NA20516,NA20518,NA20524,NA20525,NA20528,NA20535,NA20538,NA20542,NA20586,NA20752,NA20755,NA20756,NA20757,NA20758,NA20761,NA20765,NA20769,NA20771,NA20773,NA20775,NA20783,NA20795,NA20796,NA20797,NA20799,NA20803,NA20806,NA20809,NA20811,NA20816,NA20819,NA20828,NA20846,NA20847,NA20849,NA20850,NA20883,NA20888,NA20897,NA20899,NA20908,NA21092,NA21098,NA21100,NA21101,NA21111,NA21112,NA21117,NA21118,NA21300,NA21312,NA21313,NA21314,NA21316,NA21317,NA21320,NA21363,NA21378,NA21405,NA21415,NA21513,NA21519,NA21520,NA21521,NA21573,NA21583,NA21599,NA21632,NA21686 nsv465712 8 72378412 72379585 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541463 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations EYA1 HGDP01216 nsv818638 8 72378412 72379585 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417186,nssv1417601,nssv1415978,nssv1417043,nssv1415976,nssv1418008,nssv1415977,nssv1417641,nssv1418007,nssv1417118 M 112 0 10 EYA1 NA06994,NA07348,NA07357,NA12740,NA12750,NA12751,NA18537,NA18558,NA18978,NA18992 nsv515719 8 72378412 72380736 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690828,nssv656601,nssv683423,nssv678342,nssv658276,nssv661005,nssv661996,nssv689618,nssv655177,nssv692816,nssv668915,nssv690990,nssv666728,nssv664073,nssv690188,nssv677465,nssv670548,nssv691708,nssv683115,nssv675041,nssv677801,nssv665720,nssv688351,nssv688414,nssv658358,nssv671839,nssv674963,nssv678708,nssv683036,nssv653267,nssv665073,nssv653128,nssv662615,nssv656180,nssv693363,nssv666386,nssv693123,nssv667886,nssv652377,nssv683218,nssv687237,nssv674136,nssv652031,nssv652039,nssv692572,nssv653843,nssv668261,nssv688317,nssv686823,nssv652735,nssv669228,nssv653934,nssv688474,nssv692233,nssv688381,nssv688855,nssv665943,nssv655894,nssv659953,nssv684343,nssv681492,nssv677207,nssv689136,nssv667699,nssv658037,nssv663389,nssv668890,nssv673298,nssv681589,nssv655928,nssv687833,nssv689836,nssv684143,nssv678385,nssv668500,nssv672463,nssv670300,nssv683204,nssv654793,nssv676566,nssv660503,nssv674944,nssv658159,nssv675879,nssv660531,nssv662994,nssv685261,nssv689641,nssv691787,nssv689792,nssv685134,nssv656854,nssv685409,nssv676458,nssv683137,nssv671035,nssv673766,nssv652949,nssv686046,nssv659005,nssv693771,nssv688098,nssv686459,nssv691281,nssv661971,nssv668286,nssv666603,nssv663605,nssv655347,nssv659813,nssv661815,nssv661245,nssv686272,nssv652112,nssv678683,nssv655296,nssv676026,nssv685768,nssv662955,nssv686435,nssv689474,nssv653560,nssv663980,nssv690010,nssv660761,nssv681811,nssv653292,nssv676602,nssv684327,nssv659393,nssv705398,nssv664681,nssv682191,nssv669734,nssv669081,nssv684633 M 2026 1 135 EYA1 nsv818639 8 72378412 72380736 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417732,nssv1415585,nssv1417217 M 112 0 3 EYA1 NA12154,NA18576,NA19003 nsv465713 8 72378412 72384875 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541464 S 1557 0 1 EYA1 1780854219_A dgv7806n71 8 72395542 72825118 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891000,nsv891002,nsv891003,nsv891004 M 6533 4 0 EYA1 IS30409,IS33475,IS36612,IS39564 nsv891001 8 72405159 72697031 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572873 S 6533 1 0 EYA1 IS33188 esv269597 8 72534765 72534850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515139 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv6250 8 72551135 72568542 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9917,nssv5100 M 9 2 0 "" NA18507,NA19129 esv271562 8 72559945 72560213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499235 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18605 esv995642 8 72561457 72562287 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563819 S 3 1 0 "" HuRef esv273824 8 72561760 72567851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582189,essv2582687,essv2584341,essv2584804,essv2583335 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv271242 8 72561760 72567853 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558164,essv2565685,essv2575830,essv2571722,essv2546593,essv2526235,essv2542315,essv2536426,essv2522789,essv2544075,essv2556515,essv2568091,essv2545492,essv2523181,essv2531763,essv2548519,essv2521558,essv2576833,essv2550492,essv2554153,essv2552265,essv2529299,essv2558668,essv2564582,essv2577938,essv2559661,essv2576294,essv2564244,essv2554810,essv2561997,essv2557490,essv2556889,essv2552541,essv2532089,essv2562567,essv2550115,essv2558924,essv2537036,essv2539090,essv2569728,essv2527112,essv2544858,essv2553038,essv2542858,essv2540370,essv2524388,essv2534920,essv2539683,essv2549149,essv2519902,essv2522180,essv2565999,essv2531171,essv2532874,essv2528744,essv2567492,essv2553348,essv2535716,essv2559239,essv2550989,essv2568928,essv2543773,essv2539264,essv2533983,essv2573233,essv2555286,essv2555491,essv2530126,essv2573758,essv2557591,essv2534389,essv2529474,essv2538794,essv2524245,essv2545252,essv2560349,essv2549631,essv2571522,essv2574517,essv2536243,essv2548816,essv2533111,essv2525034 M 157 83 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07357,NA10851,NA11829,NA11830,NA11840,NA11881,NA11918,NA11919,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12045,NA12144,NA12154,NA12234,NA12287,NA12489,NA12749,NA12750,NA12751,NA12761,NA12776,NA12814,NA12828,NA12872,NA12874,NA18499,NA18501,NA18502,NA18505,NA18507,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18542,NA18550,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18605,NA18608,NA18638,NA18858,NA18861,NA18870,NA18912,NA18916,NA18942,NA18943,NA18945,NA18949,NA18951,NA18953,NA18959,NA19093,NA19108,NA19129,NA19172,NA19190,NA19225,NA19238,NA19240 nsv6251 8 72644566 72676967 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5101 S 9 1 0 "" NA19129 nsv523845 8 72649282 72654792 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699679 S 2026 0 1 "" esv269868 8 72672824 72673145 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496578,essv2500468,essv2503361,essv2499916,essv2508209,essv2508640,essv2512864,essv2509237,essv2504897,essv2503495,essv2502376,essv2502681,essv2500792,essv2505623 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18537,NA18542,NA18562,NA18579,NA18592,NA18609,NA18909,NA18942,NA18947,NA18948,NA18965,NA18973,NA19005 nsv824669 8 72694783 72696261 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438278 S 31 0 1 "" NA18951 esv2545626 8 72713533 72715207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241238 S 1 0 1 "" NA18507 esv2130968 8 72713766 72714504 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518199 S 1 0 1 "" NA18507 esv3316 8 72713906 72714402 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25757 S 1 0 1 Single Asian sample YH "" YH esv1004011 8 72713959 72714292 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571801 S 3 0 1 "" HuRef esv7168 8 72713971 72714299 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29609 S 1 0 1 "" SJK esv1224068 8 72713972 72714306 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646452 S 2 0 1 "" HuRef nsv891005 8 72736230 72777204 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572874 S 6533 1 0 "" IS33188 nsv397525 8 72785720 72785839 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416103 M 24 "" esv29592 8 72809264 72810393 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15427 S 451 0 1 "" NA19108 nsv821515 8 72843700 72845635 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420764 S 1 1 0 "" NA10851 nsv824670 8 72843700 72845635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432187 S 31 1 0 "" AK20 esv2091619 8 72844176 72844609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587110 S 1 0 1 "" NA18507 nsv396409 8 72844394 72844466 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414987 M 24 "" esv273072 8 72886540 72886878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580997,essv2579772 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv831353 8 72911346 73106987 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447206 S 95 0 1 LOC100132891,MSC,TRPA1 esv33409 8 72917557 72923277 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97185 S 51 0 1 LOC100132891,MSC 22075 esv33654 8 72949037 72949290 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93783 S 51 0 1 LOC100132891 21972 esv32637 8 73000365 73000568 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93971,essv94379,essv95673,essv92882,essv97125,essv99679 M 51 6 0 LOC100132891 21802,21808,21841,21939,22075,22217 esv33298 8 73001619 73001987 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98394 S 51 0 1 LOC100132891 22352 nsv6252 8 73028509 73038854 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5102 S 9 1 0 LOC100132891 NA19129 esv1942504 8 73097786 73098226 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877255 S 1 0 1 LOC100132891,TRPA1 NA18507 esv6851 8 73110384 73110436 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29292 S 1 1 0 LOC100132891,TRPA1 SJK nsv526807 8 73157032 73161192 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703161 S 2026 0 1 "" esv8726 8 73186320 73186419 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31167 S 1 0 0 "" SJK nsv512958 8 73186446 73186969 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625610 S 1 1 0 "" 1 nsv891006 8 73202985 73228721 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589898,nssv1587736,nssv1568395,nssv1586714,nssv1549045,nssv1596807,nssv1569812,nssv1562379,nssv1587499,nssv1590057,nssv1564730 M 6533 0 11 "" IS30292,IS31282,IS31722,IS37963,IS38058,IS38106,IS38429,IS38454,IS40646,MS18005,MS25544 nsv397593 8 73245449 73251563 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416171 M 24 "" esv1123131 8 73257713 73257713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223172 S 2 1 0 "" HuRef nsv396639 8 73286429 73286506 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415217 M 24 LOC392232 nsv891007 8 73309200 73341235 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550440 S 6533 1 0 LOC392232 MS18431 nsv395812 8 73454515 73457808 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414390 M 24 "" esv29731 8 73488246 73493187 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16324 S 451 0 1 "" NA19147 nsv517290 8 73489836 73491174 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675042,nssv671731,nssv670669,nssv657602,nssv665484,nssv668034,nssv693972,nssv683066,nssv664465,nssv658083,nssv690025,nssv654215,nssv675655 M 2026 0 13 "" nsv891008 8 73598648 73698520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564874 S 6533 0 1 KCNB2 IS30311 nsv891009 8 73598648 73795582 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600415 S 6533 0 1 KCNB2 IS41881 nsv524033 8 73606130 73607217 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699896 S 2026 0 1 "" nsv6253 8 73698538 73733627 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv738 S 9 1 0 KCNB2 NA19240 esv259960 8 73740323 73740593 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398855,essv2400109,essv2394680,essv2394411,essv2397486,essv2398385 M 144 0 0 Samples from several populations that are part of the HapMap project. KCNB2 NA18582,NA18861,NA18870,NA18943,NA18947,NA19093 nsv526000 8 73749235 73798508 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702226 S 2026 1 0 KCNB2 esv33951 8 73761886 73765191 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97164 S 51 1 0 KCNB2 22075 esv33601 8 73765036 73765191 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98334,essv99618 M 51 2 0 KCNB2 21772,22217 nsv527962 8 73780154 73797426 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704472 S 2026 1 0 KCNB2 nsv465714 8 73780154 73805335 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541465 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNB2 HGDP00886 nsv438065 8 73786197 73798508 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470003 S 269 0 1 Samples from several populations that are part of the HapMap project. KCNB2 NA12873 nsv891010 8 73840916 73924759 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527632 S 6533 1 0 KCNB2 SP80909 nsv465715 8 73848086 73924759 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541466 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNB2 HGDP00782 esv269210 8 73923922 73924261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576055,essv2577714,essv2576221,essv2561988,essv2557084,essv2552543,essv2551843,essv2532092,essv2536950,essv2527172,essv2561600,essv2542032,essv2551110,essv2543710,essv2556190,essv2527791,essv2529744,essv2575452,essv2575164,essv2560706,essv2524130,essv2568468,essv2560365,essv2546029,essv2574447,essv2551396,essv2533207,essv2554665 M 157 28 0 Samples from several populations that are part of the HapMap project. KCNB2 NA07051,NA07346,NA11830,NA12761,NA12814,NA12874,NA18501,NA18502,NA18504,NA18505,NA18517,NA18522,NA18523,NA18856,NA18858,NA18870,NA18871,NA18907,NA19093,NA19099,NA19102,NA19116,NA19129,NA19147,NA19190,NA19239,NA19240,NA19257 esv274654 8 73923922 73924261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582100,essv2582626,essv2582957,essv2584422 M 7 4 0 Samples from several populations that are part of the HapMap project. KCNB2 NA12878,NA12891,NA12892,NA19239 esv259445 8 73925823 73926117 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394099,essv2393891,essv2393983,essv2394394 M 6 0 0 Samples from several populations that are part of the HapMap project. KCNB2 NA12878,NA12891,NA19239,NA19240 esv259684 8 73925830 73926122 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399086,essv2401142,essv2399389,essv2399187,essv2397287,essv2401047,essv2395625,essv2399254,essv2396496,essv2396150,essv2398971,essv2394648,essv2397500,essv2398326,essv2395214,essv2394842,essv2396444,essv2399679,essv2397079,essv2400542 M 144 0 0 Samples from several populations that are part of the HapMap project. KCNB2 NA10851,NA11931,NA12287,NA12776,NA12878,NA12891,NA18501,NA18508,NA18517,NA18523,NA18603,NA18870,NA18947,NA19093,NA19108,NA19114,NA19138,NA19210,NA19239,NA19240 esv1010570 8 73925921 73925921 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568171 S 3 1 0 KCNB2 HuRef esv1014824 8 73926010 73926010 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4041805 S 2 1 0 KCNB2 HuRef nsv396083 8 73926011 73926011 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414661 M 24 KCNB2 nsv6255 8 73930635 73986631 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9753,nssv739,nssv3660,nssv6228,nssv9463,nssv1753,nssv5103 M 9 0 7 KCNB2 NA12156,NA12878,NA18507,NA18517,NA18555,NA19129,NA19240 esv2497261 8 73949416 73956785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199168 S 1 0 1 KCNB2 NA18507 nsv436585 8 73950058 73956754 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466476 S 2 0 1 Samples from several populations that are part of the HapMap project. KCNB2 NA18505 nsv512053 8 73950105 73956466 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624605 S 1 0 1 KCNB2 1 esv2272208 8 73950129 73956572 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964172 S 1 0 1 KCNB2 NA18507 dgv186e180 8 73950161 73956827 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993846,esv993471 M 3 0 1 KCNB2 HuRef esv4538 8 73950298 73956467 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26979 S 1 0 1 Single Asian sample YH KCNB2 YH nsv499484 8 73950319 73956388 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586087 S 9 0 1 KCNB2 nsv398337 8 73950320 73956377 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416915 M 24 KCNB2 esv1664475 8 73950329 73956387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235764 S 2 0 1 KCNB2 HuRef nsv831354 8 73980945 74139885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447208 S 95 1 0 C8orf84,KCNB2,TERF1 esv275110 8 73984799 73989338 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585797,essv2585413 M 1250 1 1 KCNB2 esv994308 8 73989533 73990526 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587224 S 3 0 1 KCNB2 HuRef esv996705 8 74110759 74112982 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563504 S 3 1 0 TERF1 HuRef esv2517224 8 74141970 74142907 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377365 S 1 1 0 C8orf84 NA18507 nsv6256 8 74188377 74204355 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8511 S 9 0 1 "" NA12156 esv259506 8 74206550 74206831 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394101,essv2393687,essv2394025,essv2394370 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19239,NA19240 esv260058 8 74206558 74206841 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394757,essv2400345,essv2398458,essv2401161,essv2398915,essv2396259,essv2399170,essv2399731,essv2397301,essv2395590,essv2394998,essv2396484,essv2399322,essv2400111,essv2395299,essv2395889,essv2397526,essv2395484,essv2398166,essv2397143,essv2400792,essv2394567,essv2398307,essv2395205,essv2396438,essv2399660,essv2397230,essv2395948,essv2397053,essv2400539 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11881,NA11894,NA11931,NA11995,NA12006,NA12776,NA12828,NA12878,NA18501,NA18511,NA18517,NA18522,NA18861,NA18916,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18965,NA19093,NA19108,NA19138,NA19210,NA19225,NA19238,NA19239,NA19240 esv1003334 8 74206648 74206648 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577347 S 3 1 0 "" HuRef esv8810 8 74206718 74206809 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31251 S 1 1 0 "" SJK esv1559767 8 74206725 74206725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4183490 S 2 1 0 "" HuRef nsv891011 8 74215167 74271164 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525690 S 6533 0 1 "" SP56773 nsv512054 8 74222712 74225864 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624606 S 1 0 1 "" 1 esv2441931 8 74223590 74225322 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179848 S 1 0 1 "" NA18507 esv2075437 8 74223706 74224280 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551799 S 1 0 1 "" NA18507 esv2022449 8 74223780 74224548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4887346 S 1 0 1 "" NA18507 nsv397813 8 74226127 74226127 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416391 M 24 "" nsv6257 8 74295314 74340069 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8512 S 9 0 1 LOC100130301 NA12156 nsv516903 8 74331172 74337982 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654794,nssv679687,nssv676191,nssv680786 M 2026 0 4 LOC100130301 nsv465717 8 74334996 74345111 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541468 S 1557 0 1 "" 1780846005_A nsv891012 8 74352116 74374813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511400 S 6533 0 1 RDH10,RPL7 SP55021 esv269400 8 74445904 74446199 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546433,essv2536470,essv2556667,essv2577640,essv2521721,essv2576745,essv2554118,essv2520570,essv2547222,essv2529370,essv2564609,essv2553689,essv2520095,essv2564200,essv2561892,essv2561481,essv2535512,essv2543787,essv2556232,essv2527827,essv2527658,essv2549841,essv2537883,essv2549013,essv2524808 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA11881,NA11920,NA11994,NA12043,NA12144,NA12154,NA12287,NA12716,NA12717,NA12749,NA12751,NA12763,NA12815,NA12828,NA12874,NA18523,NA18608,NA18870,NA18871,NA18907,NA18952,NA19225 nsv396937 8 74464429 74473978 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415515 M 24 "" esv28754 8 74508608 74511335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11994 S 451 0 5 LOC100128126,STAU2 NA18523,NA18861,NA18907,NA18916,NA19108 nsv524697 8 74509416 74511210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700676 S 2026 0 1 LOC100128126,STAU2 nsv522502 8 74510907 74511210 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705870 S 2026 0 1 LOC100128126,STAU2 nsv6258 8 74551254 74561069 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8513 S 9 0 1 STAU2 NA12156 nsv507473 8 74552881 74558881 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617772,nssv621920,nssv620421,nssv623048 M 4 4 0 STAU2 CHM,NA10860,NA15510,NA18994 esv270965 8 74553482 74553614 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494723,essv2501233 M 157 2 0 Samples from several populations that are part of the HapMap project. STAU2 NA18519,NA19093 esv2535782 8 74696403 74697918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208749 S 1 0 1 STAU2 NA18507 nsv395886 8 74723262 74724658 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414464 M 24 STAU2 esv23121 8 74743538 74778633 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14156 S 451 1 0 STAU2 NA12878 esv2343023 8 74749967 74757362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4734225 S 1 0 1 STAU2 NA18507 esv2327053 8 74769957 74770424 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966165 S 1 0 1 STAU2 NA18507 esv2512239 8 74794733 74796363 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191094 S 1 0 1 STAU2 NA18507 esv2103697 8 74795090 74795808 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944324 S 1 0 1 STAU2 NA18507 nsv471760 8 74950257 74950433 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646041 M 0.402 95 UBE2W esv1048357 8 74950315 74950412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3792822 S 2 0 1 UBE2W HuRef nsv831355 8 75012726 75219332 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447209 S 95 0 1 LY96,TCEB1,TMEM70 nsv510151 8 75028460 75034460 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621336 S 4 0 1 TCEB1 NA15510 esv1009583 8 75046084 75059268 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565043 S 3 0 0 TCEB1,TMEM70 HuRef nsv891013 8 75047084 75090646 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512503 S 6533 1 0 LY96,TMEM70 SP55547 nsv396789 8 75050839 75050893 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415367 M 24 "" nsv528688 8 75061410 75062568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705331 S 2026 0 1 "" nsv6259 8 75061481 75094342 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3661 S 9 1 0 LY96 NA12878 esv267688 8 75138486 75138852 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510631,essv2504233,essv2509847,essv2493690,essv2494878,essv2500701,essv2510031,essv2505261,essv2498459,essv2513511,essv2505676,essv2497717,essv2512141,essv2501869,essv2498125,essv2502034 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18508,NA18517,NA18520,NA18571,NA18593,NA18853,NA18858,NA18907,NA19005,NA19147,NA19238,NA19239,NA19240,NA19257 esv273597 8 75138500 75138844 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584001,essv2583397 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv521015 8 75199960 75204100 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680828,nssv679836 M 2026 0 2 "" esv274550 8 75225091 75225380 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584821,essv2583721 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv270612 8 75225100 75225337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521743,essv2554182,essv2532180,essv2532474,essv2563686,essv2572604,essv2559372,essv2562289,essv2578497,essv2566642,essv2531448,essv2576939,essv2572086,essv2525636,essv2560572,essv2548158,essv2571469,essv2546017,essv2574157,essv2533372 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12144,NA12287,NA18505,NA18576,NA18603,NA18609,NA18638,NA18909,NA18940,NA18948,NA18961,NA18970,NA18973,NA18980,NA19116,NA19210,NA19238,NA19239,NA19240 nsv515910 8 75249820 75317421 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665255,nssv700210,nssv684495 M 2026 0 3 JPH1 esv23178 8 75407933 75417975 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10425 S 451 0 1 "" NA19225 nsv891014 8 75412844 75690188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504082 S 6533 0 1 FLJ39080,GDAP1 SP52175 nsv6260 8 75467458 75509675 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5105,nssv9464 M 9 0 2 "" NA18517,NA19129 nsv499598 8 75473987 75492639 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586088 S 9 0 1 "" esv28709 8 75477632 75492637 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17490 S 451 0 9 "" NA18502,NA18517,NA18858,NA18916,NA19114,NA19129,NA19147,NA19240,NA19257 nsv515102 8 75477976 75487544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627971 S 1414 0 1 "" esv2421718 8 75478412 75490452 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052926,essv5113761,essv5032381,essv5092936,essv5081707,essv5158605,essv5111023,essv5041523,essv5029279,essv5040411,essv5147612,essv5100036,essv5098360,essv5100012,essv5117344,essv5129973,essv5127342,essv5122486,essv5057244,essv5068396,essv5074159,essv5033512,essv5048069,essv5033634,essv5053967,essv5122440,essv5005442,essv5093661,essv5113484,essv5037954,essv5012724,essv5052595,essv5129418,essv5123942,essv5137282,essv5148262,essv5018561,essv5026949,essv5064514,essv5108912,essv5150438,essv5121825,essv5082909,essv5056770,essv5071313,essv5090113,essv5100605,essv5099592,essv5134730,essv5120312,essv5071897,essv5018698,essv5008612,essv5088402,essv5154916,essv5088424,essv5046983,essv5118750,essv5055749,essv5015772,essv5098234,essv5089915,essv5088000,essv5093364,essv5060831,essv5127375,essv5140745,essv5157155,essv5104610,essv5014695,essv5022702,essv5140719,essv5065522,essv5153363,essv5103318,essv5056136,essv5036935,essv5102260,essv5016754,essv5122708,essv5077467,essv5156192,essv5034144,essv5014280,essv5013511,essv5082709,essv5011237,essv5097483,essv5125286,essv5021993,essv5100122,essv5156914,essv5158982,essv5141821,essv5007357,essv5086703,essv5041488,essv5134512,essv5046957,essv5092115,essv5099479,essv5149175,essv5095005,essv5095981,essv5026562,essv5124997,essv5076655,essv5093720,essv5149402,essv5094567,essv5055016,essv5159788,essv5041120,essv5059416,essv5114851,essv5078716,essv5135936,essv5157117,essv5015084,essv5141434,essv5138041,essv5107476,essv5083554,essv5146091,essv5132670,essv5065645,essv5046422,essv5023400,essv5050328,essv5137471,essv5123036,essv5034678 M 1184 0 132 "" NA18487,NA18488,NA18499,NA18500,NA18509,NA18511,NA18515,NA18517,NA18518,NA18520,NA18853,NA18854,NA18858,NA18862,NA18868,NA18910,NA18911,NA18912,NA18916,NA18917,NA18924,NA18930,NA18934,NA18935,NA19038,NA19046,NA19093,NA19096,NA19098,NA19102,NA19103,NA19114,NA19117,NA19127,NA19128,NA19129,NA19131,NA19144,NA19146,NA19147,NA19148,NA19171,NA19173,NA19174,NA19178,NA19179,NA19180,NA19182,NA19189,NA19191,NA19197,NA19200,NA19202,NA19210,NA19211,NA19214,NA19221,NA19222,NA19239,NA19240,NA19248,NA19249,NA19256,NA19257,NA19258,NA19308,NA19314,NA19317,NA19321,NA19324,NA19327,NA19332,NA19352,NA19359,NA19360,NA19371,NA19376,NA19383,NA19385,NA19390,NA19396,NA19399,NA19431,NA19437,NA19440,NA19457,NA19469,NA19470,NA19472,NA19473,NA19701,NA19702,NA19711,NA19714,NA19746,NA19748,NA19819,NA19828,NA19982,NA19983,NA20126,NA20129,NA20282,NA20284,NA20291,NA20294,NA20295,NA20302,NA20357,NA21333,NA21356,NA21362,NA21371,NA21382,NA21383,NA21405,NA21415,NA21418,NA21454,NA21455,NA21475,NA21477,NA21488,NA21517,NA21574,NA21575,NA21577,NA21580,NA21583,NA21634,NA21719,NA21740 nsv433495 8 75478412 75490452 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463376 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv442523 8 75481738 75490149 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv891015 8 75504863 75546423 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504694 S 6533 0 1 "" SP52708 nsv508514 8 75518646 75546331 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618835,nssv622598 M 4 0 2 "" NA10860,NA18994 nsv6261 8 75519005 75559453 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4613,nssv1754 M 9 0 2 "" NA18555,NA19129 nsv511385 8 75519043 75531677 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625991 S 1 0 1 "" 1 esv2549252 8 75519723 75521136 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341809 S 1 0 1 "" NA18507 nsv820083 8 75521023 75529715 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419879 S 2 1 0 "" AK1 esv2594283 8 75523839 75530439 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318744 S 1 0 1 "" NA18507 nsv436566 8 75525176 75530121 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466477 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2359377 8 75525259 75529708 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4800583 S 1 0 1 "" NA18507 esv1005694 8 75525272 75529627 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565655 S 3 0 1 "" HuRef nsv821294 8 75525285 75529549 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420765 S 1 0 1 "" NA10851 nsv824671 8 75525285 75529549 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434086,nssv1427563,nssv1425112,nssv1435224,nssv1429207,nssv1425894,nssv1433773,nssv1432188,nssv1427620,nssv1428435,nssv1438953,nssv1440470,nssv1435981 M 31 0 13 "" AK10,AK12,AK2,AK20,AK4,AK8,NA18526,NA18564,NA18566,NA18592,NA18942,NA18968,NA18973 nsv512055 8 75525371 75530129 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624607 S 1 0 1 "" 1 esv25176 8 75525410 75529549 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21356 S 451 18 0 "" NA06985,NA07037,NA11894,NA11931,NA11995,NA12006,NA12239,NA12489,NA12749,NA12828,NA15510,NA18517,NA18523,NA18916,NA19099,NA19114,NA19129,NA19147 esv9017 8 75525416 75529532 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31458 S 1 0 1 "" SJK nsv499539 8 75525426 75529555 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586089 S 9 0 1 "" esv1007964 8 75527618 75529516 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586987 S 3 0 1 "" HuRef nsv824672 8 75527618 75529516 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427952,nssv1423556,nssv1438279,nssv1436791,nssv1430709,nssv1439795,nssv1424345,nssv1431447,nssv1421853,nssv1441194,nssv1437566,nssv1441129,nssv1426822,nssv1422732,nssv1434537 M 31 0 15 "" AK16,AK18,AK6,NA18537,NA18542,NA18547,NA18552,NA18570,NA18582,NA18947,NA18949,NA18951,NA18969,NA18997,NA18999 nsv515103 8 75527816 75529592 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627972 S 1414 0 1 "" esv2617055 8 75537430 75538456 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361531 S 1 1 0 "" NA18507 esv1006445 8 75537887 75537887 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568308 S 3 1 0 "" HuRef esv1469945 8 75537901 75537901 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642757 S 2 1 0 "" HuRef nsv396631 8 75537902 75537902 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415209 M 24 "" esv273439 8 75564841 75565035 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579320 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv271433 8 75564845 75565196 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494246,essv2493784,essv2498620,essv2501288,essv2509497,essv2497535,essv2501758,essv2502257 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517,NA18858,NA19093,NA19129,NA19147,NA19239,NA19257 nsv396688 8 75564880 75564880 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415266 M 24 "" nsv891016 8 75570618 75642913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556432 S 6533 0 1 "" MS22008 nsv891017 8 75570618 75675689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601045 S 6533 0 1 FLJ39080 IS41964 esv271006 8 75611338 75611423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519195,essv2517628 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12878 esv273030 8 75611338 75611423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581216 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1033159 8 75666211 75666337 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287116 S 2 0 1 "" HuRef esv1561738 8 75677666 75677666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198257 S 2 1 0 FLJ39080 HuRef esv1965560 8 75720726 75721146 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4707603 S 1 0 1 FLJ39080 NA18507 esv28358 8 75738134 76087773 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19571,esv18120,esv19049 M 451 2 3 CRISPLD1,FLJ39080,MIR2052,PI15 NA07045,NA11993,NA15510,NA18508,NA18909 nsv891018 8 75750323 76240393 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504083 S 6533 0 1 CRISPLD1,FLJ39080,MIR2052,PI15 SP52175 nsv510152 8 75844056 75850056 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624067 S 4 0 1 "" NA18994 esv2453420 8 75865917 75866965 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239686 S 1 1 0 "" NA18507 esv268413 8 75866295 75866645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494193,essv2502929,essv2501319,essv2504748,essv2497682,essv2497093 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18507,NA19093,NA19099,NA19147,NA19190 esv271933 8 75886248 75888442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511418,essv2495255,essv2500204,essv2508049,essv2512628,essv2511872,essv2493180,essv2504165,essv2496503,essv2501200,essv2494799,essv2508916,essv2512970,essv2500887,essv2500502,essv2505605,essv2504698,essv2498769,essv2493832,essv2502210,essv2503927,essv2495029,essv2504393,essv2499540 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA07357,NA11920,NA11992,NA12006,NA12045,NA18489,NA18499,NA18504,NA18505,NA18510,NA18516,NA18519,NA18522,NA18547,NA18856,NA18956,NA19005,NA19099,NA19138,NA19210,NA19257 nsv891019 8 75902942 76155705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567679 S 6533 0 1 CRISPLD1,PI15 IS31137 nsv524736 8 75912537 75927270 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700727 S 2026 0 1 PI15 nsv519265 8 75927270 75929969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655136,nssv693650 M 2026 0 2 PI15 nsv891020 8 75937542 75995015 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577894 S 6533 0 1 "" IS34599 nsv891021 8 75981446 76051633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581085 S 6533 0 1 "" IS35498 nsv891022 8 76017080 76155705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590133,nssv1597844 M 6533 0 2 CRISPLD1 IS38463,IS41113 esv2219531 8 76033500 76033939 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699211 S 1 0 1 "" NA18507 esv2330428 8 76039317 76040000 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4613284 S 1 0 1 "" NA18507 esv2492216 8 76095573 76096786 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304313 S 1 0 1 CRISPLD1 NA18507 nsv520038 8 76167307 76172082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697190 S 2026 0 1 "" nsv831356 8 76200653 76432889 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447210,nssv1447213,nssv1447212,nssv1447211,nssv1447215,nssv1447214 M 95 0 6 "" nsv525773 8 76227272 76252267 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701944 S 2026 0 1 "" esv271264 8 76242667 76242894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526070,essv2545487,essv2531947,essv2521586,essv2544451,essv2558501,essv2528269,essv2547114,essv2564846,essv2566304,essv2531163,essv2567920,essv2529040,essv2570061,essv2535864,essv2572473,essv2556086,essv2531282,essv2572138,essv2548888,essv2524859,essv2563557 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA10847,NA11918,NA12003,NA12006,NA12144,NA12414,NA12750,NA12891,NA12892,NA18558,NA18572,NA18573,NA18577,NA18579,NA18593,NA18608,NA18609,NA18956,NA18961,NA18973 esv272834 8 76242667 76243000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580334,essv2579853 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 nsv524160 8 76252267 76263163 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700039 S 2026 0 1 "" nsv516895 8 76263163 76273605 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654742,nssv692394,nssv671956 M 2026 0 3 "" nsv396654 8 76272490 76272554 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415232 M 24 "" nsv891023 8 76284379 76360794 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575931 S 6533 0 1 "" IS33839 esv2609111 8 76288666 76290264 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321759 S 1 0 1 "" NA18507 esv2153792 8 76289269 76289969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4539999 S 1 0 1 "" NA18507 esv5255 8 76289414 76289910 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27696 S 1 0 1 Single Asian sample YH "" YH esv1007530 8 76289448 76289771 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578863 S 3 0 1 "" HuRef esv9619 8 76289455 76289769 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32060 S 1 0 1 "" SJK esv1681236 8 76289457 76289781 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000041 S 2 0 1 "" HuRef nsv396069 8 76289458 76289781 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414647 M 24 "" esv1954762 8 76300504 76300931 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768076 S 1 0 1 "" NA18507 esv990823 8 76300689 76300745 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565890 S 3 0 1 "" HuRef esv2628728 8 76300690 76300746 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375499 S 1 0 1 "" NA18507 nsv397746 8 76300690 76300746 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416324 M 24 "" nsv520966 8 76322923 76360794 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697712 S 2026 0 1 "" nsv524725 8 76322923 76390049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700713 S 2026 0 1 "" nsv526310 8 76423553 76448650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702594 S 2026 0 1 "" nsv519803 8 76445199 76448650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658778,nssv681751,nssv679720 M 2026 0 3 "" esv269963 8 76480486 76480683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500369,essv2497329,essv2497770,essv2500676,essv2494490,essv2507640,essv2509989,essv2512877,essv2511093,essv2503483,essv2503758,essv2495971 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18545,NA18555,NA18571,NA18572,NA18576,NA18593,NA18609,NA18944,NA18947,NA18960,NA18961 dgv7807n71 8 76500936 76694851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891027,nsv891026,nsv891024 M 6533 0 3 HNF4G IS31335,IS31419,IS40067 nsv891025 8 76518430 76606018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584573 S 6533 0 1 "" IS37065 nsv831357 8 76533254 76729008 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447216 S 95 0 1 HNF4G nsv891028 8 76551901 76625053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550441 S 6533 1 0 HNF4G MS18431 nsv831358 8 76556788 76582410 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447217 S 95 0 1 "" dgv7808n71 8 76597363 76694851 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891030,nsv891029 M 6533 0 2 HNF4G IS31205,IS35083 nsv465718 8 76606018 76639424 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541469 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations HNF4G HGDP01286 nsv465719 8 76637274 76682389 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541470 S 1557 0 1 HNF4G 1782681086_A nsv891031 8 76646839 76718379 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601046 S 6533 0 1 "" IS41964 esv9256 8 76734280 76734373 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31697 S 1 1 0 "" SJK nsv395984 8 76737723 76737792 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414562 M 24 "" nsv891032 8 76741607 76988020 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585021 S 6533 0 1 "" IS37226 nsv6262 8 76776343 76821235 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8514 S 9 0 1 "" NA12156 nsv397071 8 76777618 76777690 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415649 M 24 "" esv33077 8 76849619 77057229 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94126 S 51 1 0 "" 21802 dgv7809n71 8 76875964 76988020 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891033,nsv891034 M 6533 0 2 "" IS30667,IS31581 esv2083421 8 76885460 76885850 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849662 S 1 0 1 "" NA18507 nsv831360 8 76923625 77046089 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447219 S 95 1 0 "" esv2337700 8 76928904 76929307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4737193 S 1 0 1 "" NA18507 esv1084457 8 76933351 76933351 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310231 S 2 1 0 "" HuRef nsv891035 8 77012589 77211176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571118 S 6533 0 1 "" IS32607 nsv831361 8 77032195 77193046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447220 S 95 0 1 "" nsv891036 8 77088016 77146843 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550442 S 6533 1 0 "" MS18431 nsv526170 8 77162687 77168950 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702431 S 2026 0 1 "" nsv522503 8 77168950 77222036 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705871 S 2026 1 0 "" dgv7810n71 8 77211176 77376343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891040,nsv891039,nsv891037,nsv891038 M 6533 0 4 "" IS31041,SP51132,SP57379,SP57418 nsv891041 8 77286284 77338907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508198 S 6533 0 1 "" SP54579 nsv891042 8 77286284 77376343 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500302 S 6533 0 1 "" SP50144 esv990291 8 77342749 77342802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569116 S 3 0 1 "" HuRef esv2151104 8 77378211 77378745 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4692024 S 1 0 1 "" NA18507 esv1010299 8 77378410 77378534 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582951 S 3 0 1 "" HuRef esv1394861 8 77378429 77378554 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775384 S 2 0 1 "" HuRef nsv396564 8 77378430 77378554 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415142 M 24 "" esv2599211 8 77410422 77411230 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179703 S 1 1 0 "" NA18507 esv272788 8 77410896 77411142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584149,essv2584736,essv2583488 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv269167 8 77410896 77411157 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2547358,essv2564506,essv2519952,essv2546848,essv2520966,essv2552329,essv2551721,essv2532395,essv2562771,essv2569490,essv2550086,essv2558824,essv2536993,essv2538280,essv2559911,essv2532777,essv2563867,essv2541969,essv2569049,essv2556271,essv2539509,essv2573152,essv2573929,essv2531379,essv2543282,essv2526681,essv2523956,essv2560807,essv2574901,essv2549945,essv2571232,essv2546010,essv2574519 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA12717,NA12751,NA12815,NA12892,NA18498,NA18502,NA18504,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18547,NA18570,NA18576,NA18603,NA18856,NA18861,NA18871,NA18912,NA18942,NA18951,NA18961,NA18965,NA19114,NA19129,NA19137,NA19138,NA19225,NA19238,NA19239,NA19240 nsv891043 8 77413492 77488759 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579309 S 6533 0 1 "" IS35083 esv4367 8 77499900 77501123 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26808 S 1 0 1 Single Asian sample YH "" YH esv1009534 8 77499936 77500980 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578291 S 3 0 1 "" HuRef esv1431629 8 77499940 77500985 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4365036 S 2 0 1 "" HuRef nsv397624 8 77499941 77500985 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416202 M 24 "" esv2441353 8 77519012 77519570 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337847 S 1 1 0 "" NA18507 nsv831362 8 77525995 77677515 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447221 S 95 1 0 "" esv2490119 8 77606801 77608508 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382983 S 1 0 1 "" NA18507 esv1135649 8 77640292 77640292 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770474 S 2 1 0 "" HuRef nsv891044 8 77649444 77728558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579310 S 6533 0 1 LOC100192378 IS35083 nsv398363 8 77699474 77705950 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416941 M 24 LOC100192378 esv24139 8 77943652 77979641 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15121 S 451 1 0 "" NA12156 nsv522697 8 77948002 77954898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706108 S 2026 1 0 "" nsv515569 8 77997540 77997918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674920,nssv682896,nssv671656,nssv689412,nssv677010,nssv671800,nssv673414,nssv693952,nssv670187,nssv667015,nssv692395,nssv691136,nssv665888,nssv659407,nssv678285,nssv663933,nssv664270,nssv677115,nssv671957,nssv657603,nssv686123,nssv691891,nssv691498 M 2026 0 23 "" esv269888 8 78029617 78029942 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565797,essv2526113,essv2542567,essv2522840,essv2543941,essv2570971,essv2531843,essv2577500,essv2570602,essv2521726,essv2576809,essv2535474,essv2544413,essv2520338,essv2547314,essv2565267,essv2554859,essv2546868,essv2552455,essv2532101,essv2578664,essv2537028,essv2538891,essv2569784,essv2527035,essv2561362,essv2523662,essv2538218,essv2540651,essv2524560,essv2565154,essv2534572,essv2561174,essv2539591,essv2549155,essv2522228,essv2566078,essv2531170,essv2532643,essv2541627,essv2563704,essv2535677,essv2559063,essv2550993,essv2569148,essv2556401,essv2562501,essv2534016,essv2566549,essv2557621,essv2556102,essv2531587,essv2573503,essv2571874,essv2529554,essv2526721,essv2560653,essv2524113,essv2574966,essv2568763,essv2560440,essv2571306,essv2546054,essv2536268,essv2548635,essv2533150,essv2554457,essv2547676,essv2563135 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA10847,NA11829,NA11918,NA11919,NA11931,NA11992,NA11993,NA12006,NA12043,NA12044,NA12144,NA12154,NA12249,NA12414,NA12716,NA12717,NA12812,NA12872,NA12892,NA18502,NA18505,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18537,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18571,NA18572,NA18573,NA18576,NA18592,NA18603,NA18608,NA18638,NA18858,NA18861,NA18871,NA18909,NA18916,NA18948,NA18953,NA18956,NA18961,NA18964,NA18973,NA19093,NA19114,NA19116,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239 esv274507 8 78029621 78029759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579968,essv2580928,essv2578965 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239 nsv397952 8 78095375 78101406 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416530 M 24 "" esv1149577 8 78110903 78110903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834713 S 2 1 0 "" HuRef esv8594 8 78124082 78124152 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31035 S 1 1 0 "" SJK nsv891045 8 78161214 78640116 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546171 S 6533 0 1 "" MS17114 esv25129 8 78287718 78288762 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13173 S 451 0 1 "" NA19114 esv2566481 8 78416103 78420951 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204829 S 1 0 1 "" NA18507 nsv891046 8 78427867 78474370 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573036,nssv1566376 M 6533 1 1 "" IS30669,IS33232 nsv891047 8 78427867 78484884 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535852 S 6533 1 0 "" MS12509 nsv891048 8 78433927 78484884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550831 S 6533 0 1 "" MS18620 esv8252 8 78462522 78470666 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30693 S 1 0 1 "" SJK dgv7811n71 8 78488440 78728084 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891049,nsv891050 M 6533 0 2 "" IS33196,MS25617 nsv831363 8 78530552 78685129 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447223,nssv1447222 M 95 1 1 "" nsv891051 8 78538869 78640116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550443 S 6533 1 0 "" MS18431 nsv891052 8 78607982 78661345 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513082 S 6533 0 1 "" SP55683 nsv519653 8 78708196 78715231 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696974 S 2026 0 1 "" nsv891053 8 78774610 78930729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593788 S 6533 0 1 "" IS39519 esv2752267 8 78824141 79158549 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989614,essv6982364,essv6982363,essv6982362 M 771 0 1 "" BEC_427 nsv6263 8 78889410 78922903 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2790 S 9 1 0 "" NA18555 nsv525111 8 78911817 78990172 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701172 S 2026 0 1 "" nsv891054 8 78947597 79098294 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601047 S 6533 0 1 "" IS41964 esv28021 8 78994146 79002826 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18256 S 451 0 1 "" NA18502 esv1322226 8 78994491 78994594 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256312 S 2 0 1 "" HuRef nsv6264 8 79073042 79107254 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8515 S 9 1 0 "" NA12156 esv7095 8 79136203 79136265 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29536 S 1 1 0 "" SJK dgv461n21 8 79171163 79209250 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526123,nsv525612 M 2026 2 0 "" nsv831364 8 79197324 79385874 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447225,nssv1447224 M 95 2 0 "" esv1148062 8 79241894 79241966 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609743 S 2 0 1 "" HuRef nsv891055 8 79272941 79419419 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550444 S 6533 1 0 "" MS18431 nsv831365 8 79291388 79444200 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447226 S 95 1 0 "" esv5025 8 79313894 79314214 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27466 S 1 0 1 Single Asian sample YH "" YH nsv471761 8 79313946 79314077 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646042 M 0.632 95 "" nsv6266 8 79319378 79364575 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8516 S 9 0 1 "" NA12156 nsv442111 8 79341169 79347883 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515105 8 79343032 79347544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627973 S 1414 0 1 "" esv25641 8 79343130 79350308 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17329 S 451 0 1 "" NA07037 nsv891056 8 79369374 79557222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600094 S 6533 0 1 "" IS41839 nsv818640 8 79381850 79386014 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417896 S 112 1 0 "" NA18852 nsv517866 8 79381850 79419904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695270 S 2026 0 1 "" nsv396893 8 79424478 79424532 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415471 M 24 "" esv1154645 8 79424506 79424558 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3832341 S 2 0 1 "" HuRef nsv891057 8 79503383 79557222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514833 S 6533 0 1 "" SP56085 nsv891058 8 79570648 79677646 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514441 S 6533 0 1 PKIA SP56004 esv1418655 8 79598811 79598811 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3950255 S 2 1 0 PKIA HuRef nsv891059 8 79618553 79816700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538089 S 6533 0 1 FAM164A,IL7,PKIA MS13480 esv28678 8 79707947 79711055 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20378 S 451 0 1 "" NA19114 esv267673 8 79731862 79732148 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501139,essv2500937,essv2498661,essv2496941,essv2499781 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18516,NA18856,NA19138,NA19190,NA19225 nsv397013 8 79762359 79762426 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415591 M 24 FAM164A essv4456 8 79784789 79950902 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM164A,IL7 NA18552 esv33928 8 79910315 79913243 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94469,essv98012 M 51 0 2 "" 21808,22259 esv3379 8 79939295 79939691 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25820 S 1 0 1 Single Asian sample YH "" YH essv5782 8 79962967 79974635 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18540 esv271568 8 79963555 79963640 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513950 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv507474 8 79964677 79970677 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620422 S 4 1 0 "" NA15510 essv5699 8 79972581 79977663 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18550 esv272134 8 79976191 79976720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516402,essv2515223,essv2518895,essv2518216 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA19238,NA19239,NA19240 esv273456 8 79976196 79977049 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584261,essv2584447,essv2583693 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv6267 8 80015768 80026530 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8517 S 9 1 0 "" NA12156 esv24434 8 80019478 80021679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10258 S 451 0 1 "" NA12776 nsv525364 8 80027705 80030823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701484 S 2026 0 1 "" esv2005313 8 80081955 80082399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4915703 S 1 0 1 "" NA18507 nsv891060 8 80209165 80362458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550445 S 6533 1 0 "" MS18431 nsv6268 8 80450819 80474087 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2791 S 9 1 0 "" NA18555 esv26836 8 80478396 80484395 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19614 S 451 0 1 "" NA19190 nsv6269 8 80531530 80563202 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10626 S 9 1 0 "" NA18956 esv269718 8 80628871 80629181 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565596,essv2521346,essv2536657,essv2577334,essv2521697,essv2550785,essv2554053,essv2564042,essv2537063,essv2523793,essv2541416,essv2538322,essv2542968,essv2564958,essv2549438,essv2559920,essv2531076,essv2553498,essv2555646,essv2527431,essv2560203,essv2533293 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11829,NA11894,NA11920,NA12043,NA12144,NA12155,NA12287,NA12828,NA18517,NA18537,NA18545,NA18547,NA18550,NA18558,NA18564,NA18570,NA18573,NA18605,NA18945,NA18952,NA19190 nsv523754 8 80798145 80802441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699572 S 2026 0 1 "" nsv6270 8 80862614 80896977 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3662 S 9 1 0 "" NA12878 esv2490834 8 80879246 80880218 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316090 S 1 1 0 "" NA18507 esv1552513 8 80881802 80882134 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766315 S 2 0 1 "" HuRef esv271444 8 80913404 80913489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514638,essv2514720,essv2515437,essv2515094,essv2519413 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA12234,NA12249,NA12812 nsv397174 8 80966686 80966742 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415752 M 24 "" nsv397709 8 80966767 80966823 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416287 M 24 "" nsv891061 8 81046469 81149133 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579311 S 6533 0 1 MRPS28,TPD52 IS35083 esv9040 8 81155508 81155601 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31481 S 1 1 0 TPD52 SJK esv33694 8 81208515 81208907 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99744 S 51 1 0 TPD52 22217 nsv518684 8 81228135 81232410 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696133 S 2026 1 0 TPD52 esv996045 8 81257561 81266008 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565771 S 3 0 1 "" HuRef nsv6271 8 81344346 81345635 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2793 S 9 1 0 "" NA18555 esv2320045 8 81382305 81382680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511134 S 1 0 1 "" NA18507 esv25657 8 81414516 81414986 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10414 S 451 0 2 "" NA18508,NA19114 nsv891062 8 81415944 81479936 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513952 S 6533 0 1 "" SP55878 esv2250249 8 81432369 81432774 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4581127 S 1 0 1 "" NA18507 nsv524281 8 81479936 81483150 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700180 S 2026 0 1 "" nsv6272 8 81501047 81545836 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8518 S 9 0 1 "" NA12156 esv272175 8 81565656 81565860 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580285,essv2579062 M 7 2 0 Samples from several populations that are part of the HapMap project. ZBTB10 NA12891,NA19239 esv269293 8 81565665 81565894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510284,essv2510974,essv2496651,essv2495457,essv2499467,essv2495387,essv2508399,essv2500270,essv2512598,essv2496277,essv2493597,essv2506116,essv2512747,essv2498421,essv2505924,essv2495606,essv2503106,essv2512274,essv2493028,essv2502643,essv2504804,essv2506483,essv2509418,essv2501839 M 157 24 0 Samples from several populations that are part of the HapMap project. ZBTB10 NA10851,NA11831,NA11894,NA11919,NA12044,NA12287,NA12749,NA12891,NA18489,NA18511,NA18517,NA18523,NA18577,NA18858,NA18861,NA18916,NA18943,NA18949,NA18951,NA18965,NA19099,NA19108,NA19129,NA19239 nsv397562 8 81636489 81639590 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416140 M 24 "" nsv525842 8 81668403 81673151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702035 S 2026 0 1 "" nsv525916 8 81672976 81680875 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702120 S 2026 0 1 "" nsv831366 8 81782690 81947898 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447227 S 95 0 1 ZNF704 esv34101 8 81987692 82060001 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 PAG1 nsv831367 8 82009609 82218790 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447228 S 95 1 0 PAG1 nsv891063 8 82010106 82055321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550446 S 6533 1 0 PAG1 MS18431 nsv396304 8 82038964 82044914 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414882 M 24 PAG1 nsv824673 8 82153550 82155056 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428436 S 31 0 1 PAG1 AK10 esv28663 8 82155383 82155897 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21064 S 451 0 1 PAG1 NA19147 esv21702 8 82207571 82209251 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15169,esv21343 M 451 25 0 "" NA07045,NA11993,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19108,NA19114,NA19129,NA19225,NA19240,NA19257 nsv820537 8 82207571 82209336 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420766 S 1 0 1 "" NA10851 nsv819014 8 82207879 82209012 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419180 S 2 1 0 "" AK1 esv3126 8 82208732 82209366 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25567 S 1 0 1 Single Asian sample YH "" YH esv6162 8 82313611 82313713 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28603 S 1 1 0 "" SJK esv5858 8 82313752 82313828 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28299 S 1 1 0 "" SJK nsv397185 8 82409215 82409313 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415763 M 24 "" nsv891064 8 82414519 82514806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600559 S 6533 0 1 "" IS41895 esv269384 8 82425466 82425674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512477,essv2496782,essv2510672,essv2494249,essv2493182,essv2504285,essv2501206,essv2493704,essv2508774,essv2497361,essv2512965,essv2494422,essv2500099,essv2496097,essv2513403,essv2504726,essv2506998,essv2510825,essv2509493,essv2498849,essv2497585,essv2493853,essv2501935,essv2498211,essv2502109 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18501,NA18502,NA18504,NA18505,NA18516,NA18517,NA18532,NA18545,NA18547,NA18572,NA18573,NA18603,NA18907,NA19099,NA19102,NA19116,NA19129,NA19138,NA19147,NA19210,NA19239,NA19240,NA19257 esv272969 8 82425489 82425631 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583126,essv2584122,essv2584570,essv2583283 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv6273 8 82445973 82479832 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8519 S 9 1 0 "" NA12156 nsv891065 8 82480411 82587902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591173 S 6533 0 1 FABP4,FABP9,PMP2 IS38648 nsv465721 8 82480411 82842822 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541471 S 1557 1 0 CHMP4C,FABP12,FABP4,FABP9,IMPA1,PMP2,SLC10A5,ZFAND1 1798860292_A nsv510153 8 82494684 82500684 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622165 S 4 0 1 "" NA10860 nsv520913 8 82498631 82498840 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690844,nssv677634 M 2026 0 2 "" nsv438066 8 82542508 82543678 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470004,nssv470005 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19204,NA19205 nsv891066 8 82543678 82558024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503519 S 6533 0 1 FABP4 SP52077 nsv6274 8 82586890 82618821 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6229 S 9 1 0 FABP12 NA12156 esv274517 8 82587513 82587899 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579162 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv268168 8 82587555 82587709 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509935,essv2496308,essv2494798,essv2506227,essv2498411,essv2507176,essv2506713,essv2501763 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18511,NA18519,NA18523,NA18858,NA18870,NA19108,NA19239 esv274162 8 82618583 82618946 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580559,essv2579798 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269809 8 82618594 82618894 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511873,essv2505761,essv2495521,essv2509554,essv2512167,essv2498148 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18861,NA18916,NA19129,NA19238,NA19240 nsv831368 8 82629716 82772185 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447230 S 95 1 0 IMPA1,SLC10A5 nsv831369 8 82680623 82898376 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447232,nssv1447231 M 95 1 1 CHMP4C,IMPA1,SLC10A5,SNX16,ZFAND1 nsv6275 8 82681270 82714133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3663 S 9 1 0 "" NA12878 esv1774004 8 82759389 82759389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093110 S 2 1 0 IMPA1 HuRef esv2606227 8 82785857 82787548 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296357 S 1 0 1 ZFAND1 NA18507 nsv465722 8 82838100 82919646 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541472 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SNX16 HGDP01077 nsv6277 8 82889873 82935384 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6230 S 9 0 1 SNX16 NA12156 nsv398267 8 82917134 82921265 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416845 M 24 "" esv2651429 8 82942413 82943932 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5334796 S 1 0 1 "" NA18507 esv271142 8 82998836 82999200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511453,essv2507750,essv2499591 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11920,NA12751 nsv891067 8 83001525 83099105 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550447 S 6533 1 0 "" MS18431 dgv7812n71 8 83001525 83185717 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891069,nsv891068 M 6533 0 4 "" MS18487,SP52095,SP55426,SP57292 nsv831371 8 83044345 83220530 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447233 S 95 1 0 "" nsv508516 8 83109506 83115396 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620012 S 4 0 1 "" NA15510 nsv436593 8 83136165 83144126 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466478 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26425 8 83137636 83143757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10143,esv19870 M 451 0 9 "" NA18502,NA18505,NA18508,NA18517,NA18858,NA18907,NA19099,NA19108,NA19225 esv25824 8 83164878 83168241 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21373,esv12058 M 451 0 5 "" NA06985,NA11894,NA12287,NA19129,NA19147 esv2427171 8 83167164 83169068 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182814 S 1 0 1 "" NA18507 esv2195290 8 83167594 83168404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935123 S 1 0 1 "" NA18507 nsv831372 8 83186370 83345110 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447234,nssv1447235 M 95 2 0 "" nsv891070 8 83216613 83534025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579849 S 6533 0 1 "" IS35181 nsv891071 8 83216613 84082659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537480 S 6533 1 0 "" MS13219 nsv6278 8 83295721 83329756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2794 S 9 1 0 "" NA18555 esv272141 8 83324136 83324484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511761,essv2506264,essv2505733,essv2507307,essv2498986,essv2499653 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18523,NA18861,NA18912,NA19114,NA19225 nsv510154 8 83339473 83345473 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621337,nssv618294,nssv624068,nssv622166 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2635154 8 83358367 83360504 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371005 S 1 0 1 "" NA18507 esv22221 8 83359097 83360253 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19009 S 451 0 15 "" NA12489,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv821339 8 83359097 83360324 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420767 S 1 0 1 "" NA10851 esv1420295 8 83359696 83360306 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039172 S 2 0 1 "" HuRef esv267729 8 83364088 83364173 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515180,essv2517291 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12812,NA18970 nsv891072 8 83407090 83519976 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556963 S 6533 0 1 "" MS22306 nsv519448 8 83420902 83443991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696859 S 2026 0 1 "" nsv516905 8 83434235 83456427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701148,nssv654818,nssv678639,nssv688818,nssv658484,nssv678563,nssv677208,nssv687113,nssv679554 M 2026 0 9 "" esv271724 8 83435504 83435615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509074,essv2508279,essv2499942,essv2511287,essv2500675,essv2500134,essv2508198,essv2508427,essv2499260,essv2505982,essv2507357,essv2511125,essv2503530,essv2493048,essv2505437,essv2506886,essv2506639,essv2496968,essv2499814 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18561,NA18562,NA18570,NA18571,NA18573,NA18579,NA18582,NA18605,NA18861,NA18912,NA18944,NA18947,NA18951,NA18952,NA19102,NA19108,NA19190,NA19225 esv2528214 8 83437791 83452702 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194545 S 1 0 1 "" NA18507 nsv891073 8 83461850 83518639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570343 S 6533 0 1 "" IS31904 nsv470217 8 83474224 83507079 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546737 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01061 nsv465723 8 83474787 83567703 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541473 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01385 nsv470218 8 83474787 83567703 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546738 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01385 dgv462n21 8 83481896 83652299 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527926,nsv528268 M 2026 0 2 "" nsv428202 8 83499271 83669662 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451535 S 62 1 0 "" NA19113 esv270709 8 83513993 83514078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516380,essv2515855 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12814,NA12873 nsv891074 8 83568348 83674537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550448 S 6533 1 0 "" MS18431 esv268967 8 83604288 83604582 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493732,essv2497529,essv2502184 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA19147,NA19257 nsv521034 8 83650750 83652299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686255,nssv680273 M 2026 0 2 "" nsv891075 8 83652299 84496535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551663 S 6533 0 1 "" MS18970 nsv891076 8 83687327 83828161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550832 S 6533 0 1 "" MS18620 nsv831373 8 83730189 83910311 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447236 S 95 1 0 "" esv2283071 8 83732771 83733273 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721566 S 1 0 1 "" NA18507 nsv891077 8 83760730 83831675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550449 S 6533 1 0 "" MS18431 dgv7813n71 8 83760730 83891661 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891078,nsv891080 M 6533 0 3 "" IS31179,IS35572,MS18978 nsv891079 8 83784456 83863685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594202 S 6533 0 1 "" IS39718 esv269379 8 83835812 83836070 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500414,essv2497209,essv2501593 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18552,NA18608 nsv470219 8 83850343 83887630 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546739 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226 dgv893n27 8 83850516 83891770 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465725,nsv465724 M 1557 0 2 "" HGDP01185,NINDS_241 dgv1189n67 8 83889042 83896651 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824676,nsv824674 M 31 2 0 "" AK12,AK4 esv1079294 8 83899409 83899409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4273528 S 2 1 0 "" HuRef nsv512959 8 83902803 83903358 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625612 S 1 1 0 "" 1 esv268892 8 83903205 83903996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510199,essv2503256,essv2496628,essv2512447,essv2508536,essv2505060,essv2508851,essv2502787,essv2510526,essv2504074,essv2493747,essv2508960,essv2503300,essv2505370,essv2500922,essv2498527,essv2495571,essv2501400,essv2498758,essv2496924,essv2499618,essv2501902,essv2498154,essv2502055,essv2503892,essv2495019,essv2499553 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA10851,NA11881,NA11894,NA12043,NA12717,NA12828,NA12878,NA12892,NA18501,NA18505,NA18517,NA18522,NA18542,NA18853,NA18856,NA18858,NA18916,NA19093,NA19138,NA19190,NA19225,NA19239,NA19240,NA19257 esv273000 8 83903216 83904046 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584199,essv2584409,essv2583520 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv470220 8 83976503 84040813 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546740 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00471 esv2469310 8 83980263 83981205 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304534 S 1 1 0 "" NA18507 esv270316 8 83980644 83980728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540018,essv2520989,essv2557326,essv2552383,essv2562572,essv2558780,essv2543468,essv2562411,essv2575152,essv2538476,essv2574684,essv2572747,essv2551378 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18498,NA18499,NA18502,NA18507,NA18516,NA18870,NA18909,NA19102,NA19108,NA19138,NA19143,NA19257 esv994401 8 83981871 83986626 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564180 S 3 1 0 "" HuRef nsv891081 8 83991223 84147365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582160,nssv1566291,nssv1583469 M 6533 3 0 "" IS30635,IS35802,IS36512 esv21889 8 84020268 84021002 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17881 S 451 1 0 "" NA12004 esv270467 8 84064363 84064534 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510616,essv2509684,essv2509080,essv2498394,essv2509648 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18522,NA18858,NA19129 nsv891082 8 84106479 84229763 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584418 S 6533 0 1 "" IS36990 nsv398259 8 84163330 84163438 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416837 M 24 "" esv1298914 8 84163351 84163403 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589265 S 2 0 1 "" HuRef nsv524996 8 84182673 84286633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701027 S 2026 0 1 "" dgv7814n71 8 84182673 84412294 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891083,nsv891084 M 6533 0 12 "" IS38670,MS10103,MS10226,MS11657,MS12972,MS13114,MS13205,MS16588,MS17572,MS18217,MS23163,MS25750 dgv7815n71 8 84182673 84821377 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891093,nsv891085,nsv891094 M 6533 0 3 "" IS39011,MS11467,MS17114 esv3883 8 84261728 84261947 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26324 S 1 0 1 Single Asian sample YH "" YH dgv7816n71 8 84277486 84404817 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891086,nsv891087 M 6533 0 2 "" IS39718,IS41292 dgv7817n71 8 84277486 84508611 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891088,nsv891090 M 6533 0 2 "" IS36533,IS37065 nsv6279 8 84295183 84313082 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1755 S 9 1 0 "" NA18555 dgv7818n71 8 84316704 84484054 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891089,nsv891095,nsv891092 M 6533 0 9 "" IS30398,IS41832,IS41867,IS41984,MS12827,MS15312,MS18847,MS20872,MS23531 nsv465726 8 84317769 84417819 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541476 S 1557 0 1 "" NINDS_116 nsv891091 8 84334314 84473411 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555303,nssv1600560,nssv1558480,nssv1566252,nssv1566907,nssv1598715 M 6533 1 5 "" IS30620,IS30976,IS41224,IS41895,MS21258,MS23290 nsv470222 8 84334314 84497427 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546742,nssv546745,nssv546741,nssv546746,nssv546744 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356,HGDP00655,HGDP00953,HGDP01220,HGDP01363 nsv824677 8 84346771 84347326 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422733 S 31 1 0 "" NA18552 nsv470223 8 84374122 84484054 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546747,nssv546748 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875,HGDP01061 nsv465729 8 84381829 84489630 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541479 S 1557 0 1 "" 1782681115_A nsv891096 8 84390227 84508611 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582423 S 6533 0 1 "" IS35949 nsv465730 8 84426578 84490303 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541480 S 1557 0 1 "" 1780854449_A esv2528614 8 84459231 84460723 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294575 S 1 0 1 "" NA18507 esv2334907 8 84459310 84459840 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644565 S 1 0 1 "" NA18507 esv3714 8 84459475 84459709 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26155 S 1 0 1 Single Asian sample YH "" YH esv1128182 8 84459515 84459663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648086 S 2 0 1 "" HuRef nsv397439 8 84512322 84512394 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416017 M 24 "" esv1215950 8 84608824 84608824 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626028 S 2 1 0 "" HuRef nsv891097 8 84615096 84745709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536534,nssv1581405 M 6533 0 2 "" IS35572,MS12827 nsv891098 8 84615096 84899336 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550450 S 6533 1 0 "" MS18431 dgv7819n71 8 84615096 84946760 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891101,nsv891099 M 6533 0 2 "" IS36533,MS12947 nsv508517 8 84633228 84644852 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618836 S 4 0 1 "" NA10860 dgv7820n71 8 84654614 84745709 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891100,nsv891104,nsv891102 M 6533 0 10 "" IS31041,IS31194,IS31554,IS31651,IS35127,IS35911,MS12266,MS17611,MS18648,MS18847 nsv891103 8 84660462 84861182 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582972 S 6533 0 1 "" IS36219 nsv526890 8 84661995 84662096 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703248 S 2026 1 0 "" nsv398167 8 84689214 84689275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416745 M 24 "" dgv894n27 8 84690825 84722898 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465732,nsv465731 M 1557 0 2 "" HGDP00141,HGDP00926 nsv891105 8 84690825 84745709 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545668 S 6533 0 1 "" MS16898 dgv7821n71 8 84732383 84938656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891107,nsv891106 M 6533 2 0 "" MS11923,MS12331 esv267998 8 84736457 84742558 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502310,essv2501712,essv2493399,essv2503933,essv2495020 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA12004,NA12144,NA12776 nsv397667 8 84791587 84791643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416245 M 24 "" nsv891108 8 84793776 85020322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590952 S 6533 0 1 "" IS38610 nsv891109 8 84833257 84911494 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548113 S 6533 0 1 "" MS17697 nsv510155 8 84872301 84878301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621338 S 4 0 1 "" NA15510 nsv891110 8 84875818 84968748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522096 S 6533 0 1 "" SP52723 nsv891111 8 84875818 85079809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574287 S 6533 0 1 "" IS33533 dgv7822n71 8 84902684 85022499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891114,nsv891113,nsv891112 M 6533 0 3 "" MS10737,MS11467,MS23531 nsv508518 8 84926211 85012232 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618837 S 4 0 1 "" NA10860 nsv509274 8 84926211 85012232 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620911 S 4 1 0 "" NA15510 esv2752268 8 84967900 86064700 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986283,essv6986284,essv6988593,essv6982849,essv6982848 M 771 1 0 RALYL BEC_604 nsv6280 8 85073583 85106022 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5106 S 9 1 0 "" NA19129 nsv819889 8 85088312 85096942 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419873 S 2 0 1 "" AK1 esv5021 8 85121860 85122184 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27462 S 1 0 1 Single Asian sample YH "" YH nsv397390 8 85121928 85122110 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415968 M 24 "" nsv523311 8 85189484 85194559 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699052 S 2026 1 0 "" esv2497219 8 85190979 85192243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323592 S 1 0 1 "" NA18507 nsv831374 8 85266159 85471531 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447237 S 95 0 1 RALYL esv1917544 8 85297684 85298196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797693 S 1 0 1 RALYL NA18507 nsv522543 8 85327376 85328338 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705923 S 2026 0 1 RALYL esv2414076 8 85361957 85362388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556751 S 1 0 1 RALYL NA18507 esv271383 8 85391787 85392075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502325,essv2511521 M 157 2 0 Samples from several populations that are part of the HapMap project. RALYL NA07346,NA12004 esv23119 8 85417002 85417674 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18380 S 451 1 0 RALYL NA18916 nsv6281 8 85419205 85434430 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv741 S 9 0 1 RALYL NA19240 dgv149n17 8 85420095 85434199 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437076,nsv437075 M 60 0 2 RALYL NA10851,NA12864 nsv8361 8 85423043 85432493 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17042,nssv20444,nssv16219,nssv16646,nssv18269,nssv19797,nssv17386,nssv17613,nssv17706,nssv17060,nssv19212,nssv19821,nssv16462,nssv17275,nssv18398,nssv18189,nssv17617,nssv17688,nssv17325,nssv16240,nssv17254,nssv16877,nssv20243,nssv16704 M 31 24 0 Samples from several populations that are part of the HapMap project. RALYL NA07029,NA07048,NA10839,NA10863,NA11830,NA12155,NA12740,NA12802,NA18502,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19173 dgv1190n67 8 85423423 85432058 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824679,nsv824680,nsv824678 M 31 0 4 RALYL AK12,NA18542,NA18969,NA18973 nsv820872 8 85423423 85432058 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420768 S 1 0 1 RALYL NA10851 nsv436574 8 85423447 85431874 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466479 S 2 0 1 Samples from several populations that are part of the HapMap project. RALYL NA18505 nsv819991 8 85423494 85431722 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419863 S 2 1 0 RALYL AK1 nsv499568 8 85423521 85431729 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586090 S 9 0 1 RALYL nsv515106 8 85423536 85431408 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627974 S 1414 0 1 RALYL esv28210 8 85423543 85431720 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10667 S 451 37 0 RALYL NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv438067 8 85423712 85428552 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470007,nssv470010,nssv470006,nssv470009 M 269 0 4 Samples from several populations that are part of the HapMap project. RALYL NA10851,NA12057,NA12864,NA12872 esv2421860 8 85423712 85431221 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5053029,essv5003282,essv5140201,essv5011673,essv5152448,essv5101631,essv5120804,essv5090644,essv5122515,essv5144551,essv5081640,essv5111047,essv5038177,essv5048816,essv5108727,essv5142090,essv5118661,essv5119111,essv5025150,essv5127307,essv5099477,essv5023289,essv5114533,essv5103049,essv5144319,essv5157391,essv5119116,essv5016728,essv5044490,essv5049644,essv5053554,essv5017520,essv5095405,essv5139168,essv5075777,essv5073769,essv5156290,essv5099105,essv5046758,essv5073705,essv5054525,essv5065518,essv5091709,essv5100401,essv5033850,essv5154747,essv5012899,essv5131386,essv5115487,essv5121296,essv5140397,essv5023774,essv5026751,essv5057572,essv5093278,essv5143681,essv5022111,essv5055694,essv5096970,essv5128761,essv5040417,essv5058116,essv5082932,essv5041808,essv5016316,essv5058007,essv5040022,essv5110115,essv5083885,essv5019437,essv5031562,essv5008823,essv5058765,essv5049983,essv5110459,essv5160599,essv5045531,essv5126886,essv5033884,essv5027511,essv5086837,essv5137798,essv5106216,essv5094583,essv5111899,essv5017873,essv5011307,essv5090887,essv5111709,essv5022014 M 1184 0 90 RALYL NA06986,NA07357,NA10847,NA12003,NA12057,NA12146,NA12413,NA12864,NA12872,NA18484,NA18488,NA18503,NA18504,NA18505,NA18518,NA18520,NA18862,NA18870,NA18924,NA18925,NA18933,NA18934,NA18935,NA19031,NA19035,NA19036,NA19041,NA19094,NA19096,NA19097,NA19122,NA19144,NA19146,NA19221,NA19222,NA19239,NA19240,NA19247,NA19249,NA19310,NA19315,NA19316,NA19317,NA19376,NA19385,NA19403,NA19429,NA19431,NA19451,NA19455,NA19466,NA19701,NA19702,NA19708,NA19713,NA19714,NA19914,NA19917,NA19982,NA19983,NA19985,NA20281,NA20332,NA20340,NA20344,NA20345,NA20346,NA20347,NA20350,NA20357,NA20358,NA20363,NA20364,NA20761,NA20778,NA20796,NA20811,NA20890,NA21353,NA21364,NA21368,NA21400,NA21436,NA21491,NA21574,NA21578,NA21599,NA21601,NA21650,NA21686 nsv442524 8 85425438 85431221 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RALYL nsv831375 8 85434907 85626176 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447238 S 95 1 0 RALYL dgv463n21 8 85477395 85493479 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521782,nsv523312 M 2026 2 0 RALYL nsv6282 8 85587391 85594487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5107 S 9 1 0 RALYL NA19129 esv269173 8 85591145 85597230 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543914,essv2577480,essv2535205,essv2544444,essv2547276,essv2562752,essv2527246,essv2541120,essv2564854,essv2534810,essv2560061,essv2569989,essv2563615,essv2557703,essv2543114,essv2526590,essv2549116 M 157 17 0 Samples from several populations that are part of the HapMap project. RALYL NA07037,NA11992,NA12043,NA12249,NA12414,NA12717,NA18507,NA18522,NA18545,NA18558,NA18561,NA18570,NA18593,NA18603,NA18953,NA18965,NA19114 esv271825 8 85599802 85600123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525864,essv2543884,essv2556693,essv2545519,essv2523169,essv2531684,essv2577462,essv2570727,essv2521643,essv2576794,essv2550498,essv2535460,essv2554163,essv2544561,essv2520486,essv2547219,essv2529107,essv2558524,essv2564435,essv2553551,essv2565343,essv2576441,essv2562090,essv2537276,essv2528351,essv2546929,essv2520780,essv2557276,essv2556866,essv2552669,essv2551834,essv2578695,essv2536978,essv2539128,essv2527096,essv2561424,essv2563026,essv2523743,essv2541229,essv2543027,essv2540523,essv2524389,essv2564863,essv2561096,essv2539791,essv2560052,essv2566220,essv2532511,essv2567692,essv2567604,essv2535868,essv2572484,essv2542117,essv2556200,essv2527838,essv2562450,essv2539304,essv2533992,essv2578350,essv2533725,essv2566511,essv2527514,essv2557704,essv2555936,essv2534473,essv2543104,essv2526792,essv2575404,essv2575327,essv2523992,essv2545240,essv2560298,essv2549650,essv2571305,essv2546060,essv2574509,essv2551279,essv2537858,essv2533164,essv2524940,essv2563232 M 157 81 0 Samples from several populations that are part of the HapMap project. RALYL NA07000,NA07051,NA07357,NA10847,NA11918,NA11992,NA11994,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12812,NA12814,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18510,NA18517,NA18519,NA18522,NA18523,NA18532,NA18537,NA18545,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18570,NA18572,NA18576,NA18577,NA18582,NA18608,NA18609,NA18856,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18944,NA18948,NA18952,NA18953,NA18956,NA18959,NA18965,NA19005,NA19099,NA19102,NA19129,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 esv272432 8 85599802 85600123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584652,essv2583324 M 7 2 0 Samples from several populations that are part of the HapMap project. RALYL NA19239,NA19240 esv1023341 8 85599829 85599829 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780026 S 2 1 0 RALYL HuRef esv21722 8 85687339 85690331 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13690 S 451 0 2 RALYL NA19099,NA19190 nsv824681 8 85721322 85727155 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424346 S 31 0 1 RALYL NA18582 nsv831376 8 85739977 85888866 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447239,nssv1447241,nssv1447242,nssv1447243,nssv1447244 M 95 5 0 RALYL nsv6283 8 85799293 85832288 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6232 S 9 1 0 RALYL NA12156 nsv891115 8 85806119 85857060 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499914 S 6533 0 1 RALYL SP50073 nsv891116 8 85822992 85955027 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555463 S 6533 0 1 RALYL MS21356 esv21659 8 85899083 85902833 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17457 S 451 0 1 RALYL NA19225 nsv891117 8 85912084 85963299 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560855 S 6533 0 1 RALYL MS24736 dgv7823n71 8 85912084 85995448 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891118,nsv891119 M 6533 0 2 RALYL IS40890,MS22705 nsv891120 8 85912084 86053692 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550451 S 6533 1 0 RALYL MS18431 nsv891121 8 85934684 85989734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585734 S 6533 0 1 RALYL IS37639 esv2521393 8 85978780 85979837 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345467 S 1 1 0 RALYL NA18507 esv267556 8 86066611 86066918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504299,essv2509754,essv2494991,essv2498974,essv2501819,essv2498130 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18508,NA18520,NA19114,NA19239,NA19240 esv273595 8 86066612 86066948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581780,essv2582848,essv2584472,essv2583359 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239,NA19240 nsv397288 8 86242577 86244322 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415866 M 24 LRRCC1 nsv831377 8 86450359 86631393 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447245,nssv1447248,nssv1447247,nssv1447268,nssv1447246,nssv1447290,nssv1447267,nssv1447249,nssv1447250,nssv1447258,nssv1447254,nssv1447288,nssv1447252,nssv1447253,nssv1447256,nssv1447257,nssv1447255,nssv1447266,nssv1447259,nssv1447261,nssv1447260,nssv1447289,nssv1447263,nssv1447264,nssv1447265,nssv1447269,nssv1447271,nssv1447275,nssv1447270,nssv1447291,nssv1447274,nssv1447287,nssv1447272,nssv1447277,nssv1447278,nssv1447276,nssv1447285,nssv1447280,nssv1447279,nssv1447283,nssv1447281,nssv1447286,nssv1447282 M 95 43 0 CA1,CA2,CA3 essv5478 8 86592730 86763703 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. REXO1L1,REXO1L2P NA18632 dgv2243e1 8 86592730 86955528 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12329,essv14410,essv15203,essv13144,essv666,essv1859,essv10541,essv5233,essv21263,essv18228,essv21538,essv3010,essv20797,essv2816,essv11964,essv24058,essv4679,essv11637,essv12391,essv11798,essv24252,essv3457,essv24704,essv23864,essv7605,essv10484,essv570,essv15120,essv4599,essv917,essv22584,essv1279,essv22071,essv5570,essv23264,essv16482,essv8740,essv221,essv14618,essv14860,essv12562,essv4853,essv16843,essv22990,essv18604,essv2197,essv12619,essv8192,essv24749,essv13665,essv1366,essv14981,essv23986,essv2481,essv24907,essv18846,essv17800,essv3144,essv280,essv10059,essv24379,essv6566,essv18363,essv7742,essv16148,essv9465,essv22855,essv22646,essv10160,essv9596,essv15820,essv17494,essv321,essv13606,essv7129,essv5170,essv10305,essv14748,essv12855,essv3298,essv8318,essv5349,essv1518,essv4420,essv4268,essv8872,essv23490,essv6231,essv14302,essv13740,essv6384,essv13468,essv18442,essv147,essv8926,essv11194,essv15378,essv15790,essv23376,essv10778,essv8093,essv20561,essv14479,essv19412,essv10360,essv14427,essv12282,essv19595,essv13044,essv9891,essv24502,essv17652,essv9331,essv21050,essv23042,essv5939,essv13909,essv8479,essv23669,essv10687,essv11237,essv22500,essv23793,essv20083,essv10990,essv19947,essv24601,essv11417,essv8388,essv23891,essv4651,essv9161,essv21207,essv17111,essv21129,essv15366,essv18141,essv9793,essv7725,essv6295,essv21395,essv24969,essv10874,essv19192,essv3790,essv16765,essv15708,essv5732,essv6942,essv477,essv17049,essv9733,essv9060,essv12735,essv20337,essv7299,essv4806,essv2231,essv1630,essv17015,essv13031,essv4164,essv22368,essv22749,essv1425,essv21341,essv3348,essv17423,essv19662,essv5214,essv20655,essv6695,essv3190,essv4496,essv13556,essv21413,essv16253,essv15592,essv9259,essv2011,essv1206,essv18996,essv2843,essv17335,essv787,essv16031,essv7840,essv1935,essv23573,essv11911,essv1117,essv17639,essv3522,essv17240,essv17954,essv19770,essv20113,essv23417,essv15466,essv22234,essv12467,essv4020,essv21808,essv23522 M 271 0 0 REXO1L1,REXO1L2P NA06991,NA06993,NA06994,NA07019,NA07022,NA07029,NA07034,NA07048,NA07056,NA07345,NA07348,NA07357,NA10831,NA10835,NA10839,NA10854,NA10855,NA10856,NA10859,NA10860,NA10863,NA11829,NA11830,NA11831,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA12003,NA12005,NA12006,NA12043,NA12044,NA12057,NA12146,NA12154,NA12155,NA12234,NA12236,NA12249,NA12264,NA12707,NA12716,NA12717,NA12740,NA12750,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12802,NA12812,NA12813,NA12814,NA12815,NA12865,NA12873,NA12875,NA12878,NA12892,NA18500,NA18501,NA18502,NA18503,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18524,NA18529,NA18537,NA18540,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18563,NA18564,NA18572,NA18573,NA18582,NA18592,NA18593,NA18594,NA18603,NA18608,NA18609,NA18611,NA18620,NA18621,NA18622,NA18624,NA18633,NA18636,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18859,NA18860,NA18862,NA18863,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18942,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18964,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18992,NA18995,NA18998,NA18999,NA19000,NA19007,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19141,NA19143,NA19144,NA19145,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19192,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19210,NA19211,NA19222,NA19223,NA19238,NA19240 essv1724 8 86592730 87124169 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. REXO1L1,REXO1L2P NA18997 nsv428204 8 86592730 87381324 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451552,nssv451568,nssv451551,nssv451563,nssv451573,nssv451544,nssv451557,nssv451569,nssv451571,nssv451559,nssv451572,nssv451558,nssv451561,nssv451554,nssv451546,nssv451562,nssv451580,nssv451555,nssv451566,nssv451570,nssv451549,nssv451579,nssv451565,nssv451556,nssv451560,nssv451545,nssv451550,nssv451567 M 62 28 0 ATP6V0D2,PSKH2,REXO1L1,REXO1L2P,SLC7A13 HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00471,HGDP00472,HGDP00473,HGDP00474,HGDP00476,HGDP00478,HGDP00984,HGDP00986,HGDP01087,HGDP01088,HGDP01089,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19108,NA19113,NA19147,NA19189,NA19225,NA19257 nsv525974 8 86594772 86603211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702192 S 2026 0 1 "" nsv891122 8 86603211 86700666 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550452 S 6533 1 0 "" MS18431 esv271227 8 86616483 86616683 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496396,essv2509453 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA19129 nsv831378 8 86620595 86756907 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447299,nssv1447298,nssv1447292,nssv1447297,nssv1447294,nssv1447293 M 95 3 3 REXO1L1,REXO1L2P nsv891123 8 86621480 86759490 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574118 S 6533 0 1 REXO1L1,REXO1L2P IS33514 dgv7824n71 8 86627957 86741244 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891126,nsv891124 M 6533 2 0 "" IS34555,IS39354 nsv891125 8 86641090 86862876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536326 S 6533 1 0 REXO1L1,REXO1L2P MS12719 nsv891127 8 86657440 86716026 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547846 S 6533 0 1 "" MS17599 nsv517627 8 86657440 86735603 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683391,nssv695212,nssv677367,nssv652588,nssv687855,nssv664422 M 2026 1 5 "" dgv7825n71 8 86657440 86759490 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891128,nsv891130 M 6533 0 4 REXO1L1,REXO1L2P MS11331,MS12685,MS19571,SP57010 dgv7826n71 8 86678111 86747375 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891129,nsv891131,nsv891132 M 6533 0 3 "" MS12572,SP56289,SP57671 esv32802 8 86682938 86688867 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97120 S 51 0 1 "" 22075 dgv7827n71 8 86705736 86910517 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891135,nsv891134,nsv891136 M 6533 3 0 REXO1L1,REXO1L2P IS38515,MS11032,SP57921 dgv1191n67 8 86726714 86742071 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824682,nsv824684,nsv824683 M 31 3 0 "" AK2,NA18547,NA18972 nsv442112 8 86726773 86744665 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv23169 8 86739587 86763666 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13411 S 451 30 0 REXO1L1,REXO1L2P NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv471542 8 86739822 86761576 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv547958,nssv547957,nssv547955 M 3 REXO1L1,REXO1L2P nsv6284 8 86740331 86760428 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv744,nssv9754,nssv3666,nssv10627,nssv3664,nssv11189,nssv10629,nssv6233,nssv11188,nssv5108 M 9 7 0 REXO1L1,REXO1L2P NA12156,NA12878,NA15510,NA18507,NA18956,NA19129,NA19240 nsv820734 8 86741915 86763666 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420770 S 1 1 0 REXO1L1,REXO1L2P NA10851 nsv29 8 86744550 86746013 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv29 S 1 1 0 "" NA15510 nsv30 8 86749175 86752060 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv30 S 1 1 0 "" NA15510 esv1009285 8 86754139 86763703 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586459 S 3 1 0 REXO1L1,REXO1L2P HuRef nsv482122 8 86755947 86762978 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558483 S 1 1 0 REXO1L1,REXO1L2P KB1 nsv436090 8 86759925 86760046 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466480 S 2 1 0 REXO1L1 NA15510 esv1008777 8 86851004 86900492 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586461 S 3 1 0 REXO1L2P HuRef nsv831379 8 86851015 86910934 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447303,nssv1447301,nssv1447304,nssv1447316,nssv1447305,nssv1447309,nssv1447315,nssv1447308,nssv1447306,nssv1447310,nssv1447314,nssv1447311,nssv1447312,nssv1447320,nssv1447319,nssv1447317,nssv1447321,nssv1447322,nssv1447302,nssv1447313,nssv1447300 M 95 12 9 REXO1L2P nsv820555 8 86851058 86910000 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420771 S 1 1 0 REXO1L2P NA10851 esv26935 8 86851058 86911198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18585 S 451 30 0 REXO1L2P NA07037,NA07045,NA11894,NA11931,NA11993,NA12006,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv31 8 86860428 86892874 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv31 S 1 0 0 REXO1L2P NA15510 nsv6285 8 86860499 86935353 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11192,nssv3669,nssv10633,nssv749 M 9 0 4 REXO1L2P NA12878,NA15510,NA18956,NA19240 nsv6286 8 86862557 86872446 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5112,nssv10630,nssv1758,nssv745,nssv6237,nssv11191 M 9 6 0 "" NA12156,NA15510,NA18555,NA18956,NA19129,NA19240 nsv831380 8 86862766 86899546 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447344,nssv1447342,nssv1447345,nssv1447343,nssv1447346,nssv1447339,nssv1447326,nssv1447325,nssv1447341,nssv1447324,nssv1447323,nssv1447330,nssv1447328,nssv1447327,nssv1447337,nssv1447331,nssv1447336,nssv1447338,nssv1447332,nssv1447333,nssv1447334,nssv1447335 M 95 7 15 REXO1L2P nsv515107 8 86864832 86866984 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627074 S 1414 0 0 "" nsv32 8 86867463 86871701 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv32 S 1 1 0 "" NA15510 nsv33 8 86871247 86932655 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv33 S 1 0 1 REXO1L2P NA15510 nsv831382 8 86873807 86898973 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447364,nssv1447350,nssv1447363,nssv1447370,nssv1447365,nssv1447360,nssv1447356,nssv1447369,nssv1447368,nssv1447349,nssv1447366,nssv1447347,nssv1447348,nssv1447352,nssv1447359,nssv1447371,nssv1447355,nssv1447354,nssv1447353,nssv1447367,nssv1447358,nssv1447357,nssv1447361 M 95 8 15 REXO1L2P nsv469603 8 86874898 87026027 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649719 M 265 14 8 Samples from several populations that are part of the HapMap project. REXO1L2P nsv515108 8 86876624 86877616 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627076 S 1414 0 0 "" nsv436569 8 86879026 86903943 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466481 S 2 0 1 Samples from several populations that are part of the HapMap project. REXO1L2P NA18505 nsv6288 8 86880243 86883571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3672,nssv6238 M 9 2 0 "" NA12156,NA12878 nsv34 8 86882411 86894984 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv34 S 1 0 0 REXO1L2P NA15510 nsv6289 8 86883811 86922101 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3675,nssv1760,nssv750,nssv11195,nssv6243,nssv6244,nssv10634,nssv11194,nssv3673,nssv6239 M 9 6 0 REXO1L2P NA12156,NA12878,NA15510,NA18555,NA18956,NA19240 nsv36 8 86884371 86889095 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv36 S 1 1 0 REXO1L2P NA15510 nsv891137 8 86896307 86968950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519579 S 6533 0 1 "" SP81097 nsv891138 8 86896307 86983483 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559537,nssv1550917,nssv1523920 M 6533 1 2 "" MS18658,MS24015,SP54284 nsv891139 8 86896307 87070229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596721 S 6533 1 0 "" IS40622 nsv37 8 86896630 86899755 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv37 S 1 1 0 "" NA15510 dgv7828n71 8 86908477 86983483 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891143,nsv891140,nsv891144 M 6533 3 0 "" MS19301,SP51063,SP57651 dgv7829n71 8 86908477 86998106 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891142,nsv891145,nsv891141 M 6533 0 3 "" IS31171,IS38477,SP54665 dgv464n21 8 86910517 86918425 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524454,nsv522895 M 2026 0 2 "" nsv891146 8 86910517 87152863 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528640 S 6533 1 0 PSKH2 SP81333 esv2521102 8 86914188 86915341 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227908 S 1 1 0 "" NA18507 nsv522252 8 86918262 86918425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695032 S 2026 0 1 "" nsv891147 8 86956066 87403084 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547838 S 6533 1 0 ATP6V0D2,PSKH2,SLC7A13 MS17580 nsv8363 8 87020363 87024932 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21510,nssv19843 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA19221 dgv7830n71 8 87057002 87236300 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891149,nsv891148 M 6533 2 0 ATP6V0D2,PSKH2 IS32661,IS40226 nsv520085 8 87103350 87110990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697216 S 2026 0 1 "" esv273774 8 87148701 87149061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580115,essv2579883 M 7 2 0 Samples from several populations that are part of the HapMap project. PSKH2 NA12878,NA12892 esv268395 8 87148716 87149053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557920,essv2540962,essv2546434,essv2521323,essv2525928,essv2544166,essv2570844,essv2545574,essv2523279,essv2532010,essv2570678,essv2576732,essv2525371,essv2535204,essv2554126,essv2552304,essv2520280,essv2547193,essv2564341,essv2553877,essv2559702,essv2565276,essv2576445,essv2564155,essv2555115,essv2530600,essv2537570,essv2546777,essv2544884,essv2523895,essv2541211,essv2540380,essv2524387,essv2564808,essv2534711,essv2549182,essv2519587,essv2560047,essv2522075,essv2531123,essv2532755,essv2567726,essv2528724,essv2567508,essv2541557,essv2570084,essv2563786,essv2535653,essv2572439,essv2559265,essv2528108,essv2573148,essv2555527,essv2529988,essv2557697,essv2534180,essv2531435,essv2573696,essv2543115,essv2526934,essv2575145,essv2548984,essv2533072,essv2554804,essv2547916,essv2524843 M 157 66 0 Samples from several populations that are part of the HapMap project. PSKH2 NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11831,NA11881,NA11894,NA11918,NA11992,NA11993,NA12003,NA12004,NA12006,NA12044,NA12154,NA12156,NA12249,NA12287,NA12489,NA12716,NA12717,NA12751,NA12763,NA12776,NA12812,NA12814,NA12828,NA12872,NA12873,NA12878,NA12892,NA18526,NA18537,NA18545,NA18552,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18638,NA18907,NA18942,NA18945,NA18949,NA18953,NA18959,NA18961,NA18964,NA18965,NA19005,NA19102 esv2623751 8 87167602 87170067 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179328 S 1 0 1 "" NA18507 esv2143067 8 87168668 87170092 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602097 S 1 0 1 "" NA18507 esv27950 8 87168687 87169973 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12122 S 451 0 4 "" NA18505,NA18508,NA19099,NA19108 esv2585991 8 87210720 87212359 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224145 S 1 0 1 ATP6V0D2 NA18507 esv2508953 8 87225330 87226756 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384935 S 1 0 1 ATP6V0D2 NA18507 esv1495666 8 87243267 87243414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181744 S 2 0 1 "" HuRef esv1441937 8 87243434 87243700 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3955257 S 2 0 1 "" HuRef nsv6290 8 87244856 87298924 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5114,nssv3676 M 9 0 2 SLC7A13 NA12878,NA19129 nsv465733 8 87256166 87371444 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541483 S 1557 1 0 SLC7A13 NINDS_9 nsv519507 8 87256311 87403084 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679671,nssv656452,nssv678919,nssv695925 M 2026 3 1 SLC7A13 nsv515109 8 87257360 87262760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627975 S 1414 0 1 "" esv21476 8 87257375 87264287 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18804 S 451 0 8 "" NA07037,NA12287,NA12749,NA18502,NA18517,NA19129,NA19147,NA19190 esv990111 8 87384156 87384158 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568908 S 3 1 0 "" HuRef esv1103567 8 87388028 87388028 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4325269 S 2 1 0 "" HuRef esv1020316 8 87388085 87388143 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138974 S 2 0 1 "" HuRef nsv397543 8 87443325 87443325 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416121 M 24 WWP1 esv1003777 8 87537510 87540318 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563528 S 3 1 0 WWP1 HuRef esv259871 8 87601406 87601798 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398582,essv2400908,essv2396013,essv2400283 M 144 0 0 Samples from several populations that are part of the HapMap project. CPNE3 NA10847,NA11993,NA12003,NA12154 esv2422239 8 87616509 88896042 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161487 S 181 1 0 CNBD1,CNGB3,CPNE3 ND01354 nsv891150 8 87657635 87721231 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550453 S 6533 1 0 CNGB3 MS18431 esv271865 8 87691773 87692062 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496842,essv2511884,essv2494047,essv2513260,essv2501492,essv2493554,essv2499654 M 157 7 0 Samples from several populations that are part of the HapMap project. CNGB3 NA18498,NA18499,NA18871,NA18907,NA19093,NA19137,NA19225 nsv818641 8 87712857 87727855 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416462 S 112 0 1 CNGB3 NA18517 esv27647 8 87717331 87718757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14512 S 451 0 1 CNGB3 NA18508 esv28589 8 87740365 87741720 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11525 S 451 0 1 CNGB3 NA19099 nsv891151 8 87759135 87845135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550454 S 6533 1 0 CNGB3 MS18431 nsv465734 8 87783091 88970925 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541484 S 1557 1 0 CNBD1,CNGB3,DCAF4L2 NINDS_45 nsv891152 8 87830920 87893867 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578357 S 6533 0 1 "" IS34762 esv269367 8 87839191 87839515 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576898,essv2550410,essv2552310,essv2537426,essv2528373,essv2561605,essv2541414,essv2539879,essv2559836,essv2532699,essv2572381,essv2559311,essv2566415,essv2568661,essv2545015,essv2545774,essv2574168,essv2524816 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA12154,NA12234,NA12489,NA12878,NA12891,NA18523,NA18545,NA18563,NA18570,NA18576,NA18609,NA18638,NA18948,NA19147,NA19172,NA19239,NA19240 esv272538 8 87839192 87839514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582197,essv2582732,essv2583247,essv2584092,essv2584800,essv2583337 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv470224 8 87858448 87875720 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546749 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00461 nsv891153 8 87860415 87882643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601000 S 6533 0 1 "" IS41956 dgv7831n71 8 87860415 87893867 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891155,nsv891154 M 6533 0 29 "" IS32891,IS34758,IS34769,IS35605,IS35622,IS35701,IS36640,IS37443,IS40219,IS40902,IS41808,IS41809,IS41860,IS41922,IS41926,IS41940,IS41968,MS10393,MS15672,MS19771,MS20030,MS20042,MS20359,MS20440,MS21290,MS21325,MS21814,MS22353,MS22993 nsv891156 8 87860757 87913119 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556433,nssv1600147 M 6533 0 2 "" IS41848,MS22008 nsv891157 8 87860757 87938792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554506 S 6533 0 1 "" MS20843 nsv891158 8 87860757 88025725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556746 S 6533 0 1 CNBD1 MS22146 nsv398104 8 87884125 87884196 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416682 M 24 "" nsv891159 8 87893867 87945230 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550455 S 6533 1 0 "" MS18431 nsv831383 8 87896390 88074013 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447372 S 95 1 0 CNBD1 esv1055162 8 87900598 87900598 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732904 S 2 1 0 "" HuRef nsv519200 8 87938792 87942336 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694315 S 2026 0 1 "" esv1731753 8 88045497 88045497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337527 S 2 1 0 CNBD1 HuRef nsv398035 8 88180094 88180378 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416613 M 24 CNBD1 esv1125411 8 88218230 88218230 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756871 S 2 1 0 CNBD1 HuRef nsv891160 8 88278254 88450624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550456 S 6533 1 0 CNBD1 MS18431 nsv891161 8 88304457 88424995 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522371 S 6533 1 0 CNBD1 SP52940 nsv891162 8 88373986 88448321 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598543,nssv1589250,nssv1563970 M 6533 2 1 CNBD1 IS30139,IS38330,IS41043 nsv891163 8 88410536 88516251 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517412 S 6533 0 1 CNBD1 SP57270 nsv525991 8 88454193 88485434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702214 S 2026 0 1 CNBD1 esv2567161 8 88478933 88479886 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5394024 S 1 1 0 "" NA18507 esv269183 8 88479520 88479822 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521113,essv2536757,essv2544111,essv2570826,essv2556733,essv2523214,essv2521678,essv2550436,essv2554049,essv2558456,essv2578016,essv2565273,essv2528246,essv2546696,essv2530510,essv2520967,essv2557330,essv2557237,essv2532359,essv2569244,essv2578656,essv2558761,essv2527201,essv2561562,essv2542623,essv2540501,essv2559838,essv2565936,essv2541712,essv2550904,essv2543704,essv2556378,essv2562306,essv2556083,essv2575565,essv2538683,essv2526402,essv2560616,essv2572843,essv2568679,essv2560284,essv2548069,essv2549690,essv2571296,essv2545997,essv2574334,essv2551386,essv2538158,essv2554751 M 157 49 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07346,NA11894,NA11920,NA11992,NA11993,NA11994,NA12004,NA12144,NA12234,NA12287,NA12750,NA12761,NA12812,NA12891,NA12892,NA18486,NA18498,NA18499,NA18501,NA18505,NA18508,NA18510,NA18516,NA18522,NA18523,NA18550,NA18552,NA18570,NA18572,NA18592,NA18858,NA18870,NA18871,NA18909,NA18956,NA19099,NA19108,NA19114,NA19116,NA19143,NA19147,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272853 8 88479527 88479691 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584746,essv2583736 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv891164 8 88485434 88631784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583352 S 6533 1 0 "" IS36438 nsv891165 8 88532420 88647258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550457 S 6533 1 0 "" MS18431 nsv437627 8 88580849 88585533 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467508 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv22339 8 88581424 88581882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19850 S 451 0 1 "" NA19190 nsv436596 8 88590541 88599067 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466482 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22888 8 88591926 88598158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17843 S 451 0 3 "" NA18505,NA18858,NA18916 nsv891166 8 88647258 88765955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543075 S 6533 0 1 "" MS16039 nsv891167 8 88669709 88916072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574683 S 6533 0 1 "" IS33605 esv272576 8 88803046 88803477 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580557 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv270439 8 88803176 88803261 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519040,essv2515210 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19141,NA19238 nsv824685 8 88811952 88812389 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425115 S 31 1 0 "" AK2 nsv831384 8 88815834 88986364 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447376,nssv1447375,nssv1447374,nssv1447377 M 95 4 0 DCAF4L2 esv270015 8 88826090 88826175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514722,essv2515337,essv2516383,essv2515910,essv2514284,essv2517273,essv2513727 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12234,NA12249,NA12814,NA12873,NA12874,NA18970 nsv527669 8 88832035 88855893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704144 S 2026 0 1 "" nsv6291 8 88836263 88872072 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8521 S 9 0 1 "" NA12156 nsv891168 8 88872691 88970925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551341 S 6533 0 1 DCAF4L2 MS18847 nsv891169 8 88872691 89017941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589251 S 6533 1 0 DCAF4L2 IS38330 nsv831385 8 88876378 89034588 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447378 S 95 0 1 DCAF4L2 nsv6292 8 88989851 89034488 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8522 S 9 0 1 "" NA12156 essv19267 8 89032945 89202820 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MMP16 NA10838 esv2084498 8 89095718 89096109 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593387 S 1 0 1 "" NA18507 esv2624630 8 89095907 89095984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297956 S 1 0 1 "" NA18507 esv23361 8 89167282 89169536 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13043 S 451 0 2 MMP16 NA18523,NA19147 nsv396473 8 89265936 89266091 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415051 M 24 MMP16 nsv831386 8 89278904 89472662 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447379 S 95 1 0 MMP16 nsv527243 8 89286657 89297086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703645 S 2026 0 1 MMP16 esv1991117 8 89290797 89291208 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4746533 S 1 0 1 MMP16 NA18507 nsv891170 8 89297086 89367315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552854 S 6533 0 1 MMP16 MS19634 esv3247 8 89317880 89318339 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25688 S 1 0 1 Single Asian sample YH MMP16 YH esv2188156 8 89317942 89318417 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4899545 S 1 0 1 MMP16 NA18507 nsv891171 8 89412060 89508585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577895 S 6533 0 1 "" IS34599 esv5395 8 89420981 89421206 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27836 S 1 0 1 Single Asian sample YH "" YH esv989782 8 89421043 89421138 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571426 S 3 0 1 "" HuRef esv2610995 8 89460225 89461972 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199508 S 1 0 1 "" NA18507 esv2246425 8 89461124 89461837 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4546256 S 1 0 1 "" NA18507 esv3023 8 89461262 89461753 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25464 S 1 0 1 Single Asian sample YH "" YH esv1010645 8 89461323 89461629 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583820 S 3 0 1 "" HuRef nsv397331 8 89461324 89461630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415909 M 24 "" esv1464428 8 89461334 89461641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719021 S 2 0 1 "" HuRef esv9732 8 89461336 89461629 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32173 S 1 0 1 "" SJK nsv891172 8 89508585 89709821 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557467 S 6533 0 1 "" MS22705 nsv891173 8 89578339 90065906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504238,nssv1501329,nssv1522385,nssv1527795,nssv1508386,nssv1518925,nssv1522706,nssv1559945 M 6533 0 8 "" MS24225,SP50823,SP52338,SP52982,SP53399,SP54625,SP58561,SP80994 nsv520279 8 89603207 89676553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv662350,nssv688733 M 2026 0 2 "" esv2318056 8 89619770 89620223 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505798 S 1 0 1 "" NA18507 nsv891174 8 89647148 89727166 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515252 S 6533 0 1 "" SP56143 esv1010810 8 89661383 89662306 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586849 S 3 0 1 "" HuRef dgv7832n71 8 89790887 89945110 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891175,nsv891176 M 6533 0 2 "" IS37837,IS41939 nsv831387 8 89873310 90080226 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447380 S 95 0 1 "" esv2752269 8 89956774 90043500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983032,essv6983031,essv6983033,essv6986329,essv6986330 M 771 1 0 "" BEC_535 nsv831388 8 89961838 90120053 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447382,nssv1447381 M 95 0 2 "" esv269534 8 89979304 89979632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510706,essv2495724 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18916 esv2516888 8 89995455 90000034 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249782 S 1 0 1 "" NA18507 esv2448252 8 89995574 89999827 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175879 S 1 0 1 "" NA18507 esv2085200 8 89995704 89999221 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909605 S 1 0 1 "" NA18507 esv28869 8 89995905 89999006 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14641 S 451 0 5 "" NA18523,NA19099,NA19147,NA19190,NA19257 nsv442113 8 89997494 89999111 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515110 8 89997720 89998216 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627976 S 1414 0 1 "" nsv519294 8 90007341 90010330 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696773 S 2026 0 1 "" nsv891177 8 90011005 90235545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595849 S 6533 0 1 "" IS40345 nsv526069 8 90067358 90075430 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702309 S 2026 0 1 "" essv1813 8 90162190 90164239 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18971 nsv397759 8 90173959 90180065 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416337 M 24 "" nsv526917 8 90235545 90271053 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703279 S 2026 0 1 "" nsv821658 8 90268651 90314197 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421214 S 31 1 0 "" nsv891178 8 90358442 90406126 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569093 S 6533 0 1 "" IS31419 esv272812 8 90375996 90377210 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580736,essv2579349,essv2579408 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv891179 8 90376768 90404942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567504 S 6533 0 1 "" IS31094 essv8888 8 90390763 90407394 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19171 nsv8364 8 90398809 90407280 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18299 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv818642 8 90399318 90406126 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416575,nssv1416576 M 112 0 2 "" NA19171,NA19173 nsv438068 8 90399970 90406126 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470012,nssv470013,nssv470014,nssv470011 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19171,NA19173 essv12134 8 90400200 90407394 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19173 nsv522956 8 90400478 90402277 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698625 S 2026 0 1 "" nsv437628 8 90400506 90408458 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467509 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv6293 8 90435039 90467063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5115 S 9 1 0 "" NA19129 nsv510156 8 90534530 90540530 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622167,nssv624069 M 4 0 2 "" NA10860,NA18994 nsv396094 8 90537377 90537538 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414672 M 24 "" nsv528988 8 90544491 90677362 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705688 S 2026 0 1 "" nsv525380 8 90602043 90616095 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701502 S 2026 1 0 "" nsv527244 8 90602043 90658746 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703646 S 2026 1 0 "" nsv831389 8 90644633 90822242 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447383 S 95 0 1 "" nsv524399 8 90696552 90704907 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700317 S 2026 0 1 "" esv2510098 8 90710180 90710265 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253749 S 1 0 1 "" NA18507 esv270889 8 90738994 90739338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514645,essv2516623,essv2519221,essv2517020,essv2514157,essv2518766,essv2514842,essv2516537,essv2515692,essv2518182,essv2516105,essv2517883,essv2517319,essv2519145,essv2519493,essv2513593 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11881,NA11894,NA11931,NA12043,NA12045,NA12234,NA12814,NA12815,NA12872,NA12873,NA12878,NA18970,NA19141 esv272468 8 90738994 90739338 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581449 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv7895 8 90741256 90742540 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30336 S 1 0 0 "" SJK nsv891180 8 90766932 90871632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552855 S 6533 0 1 RIPK2 MS19634 nsv6294 8 90774902 90819223 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1762 S 9 0 1 "" NA18555 nsv891181 8 90806380 90889143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582001 S 6533 0 1 RIPK2 IS35771 nsv891182 8 90854822 90957956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561075 S 6533 1 0 RIPK2 MS24833 nsv6295 8 90889316 90922713 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8523 S 9 1 0 "" NA12156 nsv520356 8 90892832 90927156 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684002,nssv663164 M 2026 0 2 "" nsv6296 8 90963008 90997735 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv751 S 9 1 0 OSGIN2 NA19240 nsv891183 8 91044726 91180369 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550458 S 6533 1 0 CALB1,DECR1,NBN MS18431 essv345 8 91069962 91398845 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CALB1,DECR1 NA18971 esv1748740 8 91075921 91075921 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588786 S 2 1 0 "" HuRef nsv8365 8 91083536 91088776 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20303 S 31 1 0 Samples from several populations that are part of the HapMap project. DECR1 NA18972 esv3041 8 91138285 91138745 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25482 S 1 0 1 Single Asian sample YH "" YH esv6532 8 91138350 91138671 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28973 S 1 0 1 "" SJK essv1701 8 91159997 91248302 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. CALB1 NA18968 esv271952 8 91169742 91169918 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510205,essv2504214,essv2496283,essv2493682,essv2505928,essv2503112,essv2493094,essv2505458,essv2504731,essv2506558 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA18505,NA18511,NA18517,NA18861,NA18943,NA18951,NA18952,NA19099,NA19108 esv34347 8 91170515 91248302 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980207,essv6980208 M 771 1 0 "" NA18968 nsv470225 8 91182792 91298430 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546750 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00459 nsv891184 8 91183874 91291830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550459 S 6533 1 0 "" MS18431 essv1798 8 91196856 91304511 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18971 nsv824687 8 91214030 91246664 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427574 S 31 1 0 "" NA18968 esv35109 8 91219902 91296116 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978141,essv6987334,essv6978142 M 771 0 1 "" NA18971 nsv818643 8 91222484 91281324 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417540 S 112 0 1 "" NA18971 nsv438069 8 91252950 91255894 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470015 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18971 nsv8366 8 91259228 91264514 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16279 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 esv22613 8 91260188 91261027 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10955 S 451 0 1 "" NA19129 esv25037 8 91270607 91271882 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19056 S 451 0 4 "" NA18502,NA18861,NA18909,NA19099 nsv510157 8 91275479 91281479 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618295,nssv621339 M 4 0 2 "" CHM,NA15510 esv2506558 8 91303081 91304418 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5366386 S 1 0 1 "" NA18507 esv1174101 8 91314722 91314790 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987883 S 2 0 1 "" HuRef nsv510158 8 91360814 91366814 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621340 S 4 0 1 "" NA15510 nsv6297 8 91483713 91503743 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10635 S 9 1 0 "" NA18956 esv2408826 8 91584409 91585074 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823873 S 1 0 1 "" NA18507 esv2621133 8 91584937 91586261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240177 S 1 0 1 "" NA18507 esv1556167 8 91766004 91766851 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351616 S 2 0 1 "" HuRef nsv891185 8 91992952 92125464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499820 S 6533 0 1 LOC100127983,NECAB1,TMEM55A SP50073 esv272269 8 92009168 92009521 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580738,essv2579662 M 7 2 0 Samples from several populations that are part of the HapMap project. NECAB1 NA19238,NA19240 esv269945 8 92009178 92009538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510290,essv2493354,essv2511766,essv2510620,essv2493156,essv2496527,essv2494647,essv2494915,essv2494032,essv2499808,essv2511960,essv2498106,essv2502259,essv2504375,essv2499587 M 157 15 0 Samples from several populations that are part of the HapMap project. NECAB1 NA07347,NA07357,NA10851,NA12776,NA18499,NA18501,NA18504,NA18510,NA18519,NA18520,NA18871,NA19225,NA19238,NA19240,NA19257 essv220 8 92043675 92342900 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100127983,LRRC69,MIR4661,OTUD6B,SLC26A7,TMEM55A NA18948 esv2443764 8 92105898 92107344 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161688 S 1 0 1 TMEM55A NA18507 nsv831390 8 92106187 92267781 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447385 S 95 1 0 LRRC69,OTUD6B,TMEM55A nsv6300 8 92109758 92144758 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv752 S 9 1 0 TMEM55A NA19240 esv1005323 8 92147587 92148268 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564964 S 3 1 0 "" HuRef dgv7833n71 8 92180112 92260187 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891186,nsv891189,nsv891187,nsv891188 M 6533 0 22 LRRC69 MS22787,MS26118,SP50183,SP50521,SP50880,SP51477,SP52329,SP52364,SP52594,SP52723,SP53302,SP54236,SP54383,SP55312,SP55470,SP55650,SP56094,SP56922,SP58026,SP81064,SP81156,SP81356 nsv465736 8 92192384 92243291 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541485 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LRRC69 HGDP01057 nsv525292 8 92192384 92243291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701398 S 2026 0 1 LRRC69 essv3326 8 92196639 92253014 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LRRC69 NA18948 esv35058 8 92196639 92287952 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988307,essv6980074 M 771 0 1 LRRC69,MIR4661 NA18948 esv6601 8 92220990 92221236 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29042 S 1 0 0 LRRC69 SJK esv2523005 8 92221688 92223158 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229742 S 1 0 1 LRRC69 NA18507 esv2195824 8 92221840 92222556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4664816 S 1 0 1 LRRC69 NA18507 esv995698 8 92222039 92222362 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577463 S 3 0 1 LRRC69 HuRef nsv6301 8 92254321 92286429 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10636 S 9 1 0 LRRC69 NA18956 esv272980 8 92255253 92255600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580081,essv2579942,essv2580797 M 7 3 0 Samples from several populations that are part of the HapMap project. LRRC69 NA12878,NA12892,NA19238 nsv398405 8 92255441 92255441 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416983 M 24 LRRC69 esv1005988 8 92255458 92255459 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569812 S 3 1 0 LRRC69 HuRef nsv524992 8 92256914 92258116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701021 S 2026 0 1 LRRC69 nsv6302 8 92336232 92350693 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8524 S 9 0 1 SLC26A7 NA12156 nsv891190 8 92424097 92554048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538090 S 6533 0 1 SLC26A7 MS13480 nsv523642 8 92461046 92612139 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699443 S 2026 1 0 SLC26A7 nsv6303 8 92546676 92591595 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8525 S 9 0 1 "" NA12156 esv993266 8 92601307 92610787 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563655 S 3 0 1 "" HuRef esv268288 8 92627139 92627476 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513856 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv831391 8 92647432 92830267 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447386 S 95 0 1 "" nsv831393 8 92732973 92896230 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447387 S 95 1 0 "" esv268573 8 92746225 92746565 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514548,essv2516793,essv2517069,essv2515330,essv2515529,essv2514444,essv2513733 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11881,NA11931,NA12249,NA12815,NA12874 nsv470226 8 92755634 92939935 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546751 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01186 nsv465737 8 92756892 92939935 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541486 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01186 esv2107099 8 92781196 92781900 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844482 S 1 0 1 "" NA18507 nsv891191 8 92785322 92914686 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550460 S 6533 1 0 "" MS18431 nsv891192 8 92802993 92855650 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599331 S 6533 0 1 "" IS41581 esv2190755 8 92909248 92909680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739222 S 1 0 1 "" NA18507 esv1002833 8 92909392 92909464 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574860 S 3 0 1 "" HuRef esv1494908 8 92909405 92909478 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714923 S 2 0 1 "" HuRef nsv398262 8 92915880 92915880 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416840 M 24 "" nsv891193 8 92971608 93083325 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553079 S 6533 0 1 RUNX1T1 MS19721 esv6455 8 93002561 93013171 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28896 S 1 0 0 "" SJK nsv891194 8 93258807 93358438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550461 S 6533 1 0 "" MS18431 nsv824688 8 93264020 93264860 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432189 S 31 1 0 "" AK20 nsv831394 8 93331212 93555276 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447388 S 95 0 1 "" nsv891195 8 93381285 93493797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561960 S 6533 0 1 "" MS25304 nsv891196 8 93381285 93499314 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550462 S 6533 1 0 "" MS18431 esv1922151 8 93421165 93421695 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949555 S 1 0 1 "" NA18507 esv4713 8 93421292 93421586 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27154 S 1 0 1 Single Asian sample YH "" YH nsv6304 8 93424369 93458234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2795 S 9 1 0 "" NA18555 esv272137 8 93442247 93442332 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517977 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 esv272738 8 93573668 93574009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580941,essv2579545 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv267964 8 93573670 93573992 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499373,essv2510697,essv2494187,essv2493322,essv2513503,essv2495730,essv2506889,essv2512109,essv2498096 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11994,NA18501,NA18502,NA18504,NA18907,NA18916,NA19102,NA19238,NA19240 essv23808 8 93612869 93782102 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12763 nsv831395 8 93630969 93815239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447389 S 95 1 0 "" esv2340092 8 93652478 93652899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4526768 S 1 0 1 "" NA18507 nsv396166 8 93652672 93652722 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414744 M 24 "" nsv8367 8 93705785 93707383 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17314 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv520319 8 93729883 93750484 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697346 S 2026 1 0 "" nsv524263 8 93733795 93741652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700160 S 2026 0 1 "" nsv438071 8 93767166 93775734 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470017,nssv470018,nssv470020,nssv470016 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA07056,NA10860,NA12878,NA12892 nsv891197 8 93773494 94092322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577896 S 6533 0 1 C8orf83 IS34599 nsv891198 8 93964852 94103719 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554106 S 6533 0 1 C8orf83 MS20616 nsv520321 8 93975352 93986958 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697347 S 2026 1 0 C8orf83 nsv516524 8 94115488 94115766 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680760,nssv670623,nssv685110,nssv688457,nssv668870,nssv685325 M 2026 6 0 "" nsv517836 8 94115488 94146747 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695241 S 2026 1 0 "" nsv6305 8 94126057 94157293 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3678,nssv8526 M 9 0 2 "" NA12156,NA12878 nsv831396 8 94127529 94331876 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447390 S 95 1 0 LOC389676 nsv508519 8 94140348 94160880 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617363 S 4 0 1 "" CHM esv26426 8 94141318 94146382 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11370,esv20490 M 451 0 7 "" NA07045,NA12006,NA12828,NA12878,NA18517,NA19108,NA19225 esv2888 8 94141461 94146423 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25329 S 1 0 1 Single Asian sample YH "" YH esv8245 8 94141490 94146361 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30686 S 1 0 1 "" SJK nsv499242 8 94141521 94146369 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586091 S 9 0 1 "" nsv515111 8 94141584 94145816 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627977 S 1414 0 1 "" nsv465738 8 94212383 94236830 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541487 S 1557 0 1 LOC389676 1780854017_A esv271992 8 94231629 94231964 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558001,essv2571771,essv2546474,essv2536580,essv2522821,essv2568369,essv2570583,essv2535225,essv2552041,essv2520554,essv2564648,essv2577932,essv2559630,essv2576220,essv2564241,essv2537436,essv2528626,essv2539993,essv2557360,essv2556829,essv2532283,essv2562592,essv2569268,essv2578722,essv2539046,essv2561534,essv2523900,essv2552991,essv2542788,essv2524570,essv2565008,essv2534835,essv2549152,essv2519554,essv2559935,essv2522240,essv2566242,essv2529008,essv2541826,essv2570271,essv2553299,essv2535790,essv2572543,essv2566756,essv2541904,essv2562419,essv2533987,essv2573000,essv2522418,essv2531473,essv2577181,essv2525657,essv2529785,essv2575338,essv2538640,essv2526342,essv2524235,essv2574647,essv2568732,essv2560168,essv2571330,essv2546137,essv2574250,essv2551383,essv2563318 M 157 65 0 Samples from several populations that are part of the HapMap project. LOC389676 NA10847,NA10851,NA11840,NA11881,NA11920,NA11931,NA11995,NA12044,NA12249,NA12489,NA12716,NA12751,NA12761,NA12776,NA12814,NA12828,NA12878,NA12891,NA18489,NA18499,NA18501,NA18505,NA18507,NA18508,NA18510,NA18519,NA18523,NA18537,NA18542,NA18550,NA18555,NA18558,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18853,NA18856,NA18909,NA18916,NA18942,NA18960,NA18961,NA18970,NA18980,NA19093,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv273703 8 94231631 94231962 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582520,essv2582984,essv2584307,essv2584801,essv2583407 M 7 5 0 Samples from several populations that are part of the HapMap project. LOC389676 NA12891,NA12892,NA19238,NA19239,NA19240 nsv824689 8 94245092 94245603 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432190 S 31 1 0 LOC389676 AK20 nsv819510 8 94260339 94267597 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419816 S 2 1 0 "" AK1 nsv6306 8 94299224 94315571 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv753 S 9 0 1 "" NA19240 nsv499419 8 94306592 94312780 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586092 S 9 0 1 "" esv26359 8 94306649 94312214 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16079 S 451 0 1 "" NA19240 nsv515112 8 94307136 94308448 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627077 S 1414 0 0 "" nsv515113 8 94309608 94312664 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627978 S 1414 0 1 "" nsv6307 8 94407727 94450765 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8527 S 9 0 1 LOC642924 NA12156 nsv510159 8 94418977 94424977 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624070 S 4 0 1 "" NA18994 nsv831397 8 94424364 94588607 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447392,nssv1447393,nssv1447391 M 95 3 0 LOC642924 nsv891199 8 94460822 94595797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579938 S 6533 0 1 LOC642924 IS35190 esv1622755 8 94487032 94487136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360547 S 2 0 1 LOC642924 HuRef nsv831398 8 94574109 94712488 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447394 S 95 1 0 LOC642924 nsv6308 8 94719693 94754554 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv754 S 9 1 0 LOC642924 NA19240 nsv824690 8 94722896 94728559 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436793 S 31 0 1 LOC642924 NA18542 esv2437891 8 94744872 94751865 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350854 S 1 0 1 LOC642924 NA18507 nsv528872 8 94759374 94813989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705552 S 2026 0 1 FAM92A1,LOC642924,RBM12B dgv7834n71 8 94769577 94909310 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891201,nsv891200 M 6533 0 2 C8orf39,FAM92A1,LOC642924,RBM12B,TMEM67 IS40657,MS22013 nsv831399 8 94784579 94974041 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447396 S 95 0 1 C8orf39,FAM92A1,RBM12B,TMEM67 nsv6309 8 94810961 94845178 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv755 S 9 1 0 C8orf39,RBM12B,TMEM67 NA19240 esv1003815 8 94889867 94889867 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584845 S 3 1 0 TMEM67 HuRef esv1575991 8 94889909 94889909 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3923850 S 2 1 0 TMEM67 HuRef nsv831400 8 94937953 94974041 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447397 S 95 1 0 "" nsv518975 8 95054898 95062134 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696443 S 2026 0 1 "" nsv6311 8 95241315 95274197 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv756 S 9 1 0 CDH17 NA19240 dgv465n21 8 95265970 95302512 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518636,nsv522024 M 2026 2 0 CDH17 nsv831401 8 95287473 95463144 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447398 S 95 0 1 CDH17,GEM,RAD54B nsv396169 8 95291659 95292424 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414747 M 24 CDH17 nsv6312 8 95393627 95408381 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5116 S 9 1 0 "" NA19129 nsv398390 8 95422398 95422452 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416968 M 24 "" nsv6313 8 95493461 95527047 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5117 S 9 1 0 RAD54B NA19129 nsv891202 8 95514836 95526162 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509145 S 6533 0 1 RAD54B SP54753 esv21754 8 95627500 95630527 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13932 S 451 0 3 KIAA1429 NA19147,NA19190,NA19257 nsv438072 8 95627870 95640619 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470021 S 269 0 1 Samples from several populations that are part of the HapMap project. KIAA1429 NA19116 nsv520435 8 95667774 95677543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697417 S 2026 0 1 "" nsv516679 8 95686156 95707672 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694141,nssv670111,nssv682581 M 2026 2 1 "" esv1528672 8 95688558 95688558 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904947 S 2 1 0 "" HuRef esv2191290 8 95688566 95689021 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724848 S 1 0 1 "" NA18507 esv2576203 8 95688718 95688821 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190626 S 1 0 1 "" NA18507 esv2606027 8 95715389 95718694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239411 S 1 0 1 LOC100288748 NA18507 esv2033943 8 95715995 95718304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945355 S 1 0 1 "" NA18507 esv29364 8 95716183 95717097 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19892 S 451 0 1 "" NA18916 nsv511392 8 95790428 95801942 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625998 S 1 0 1 DPY19L4 1 nsv512056 8 95794020 95797619 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624608 S 1 0 1 "" 1 esv25222 8 95794465 95796334 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13820 S 451 0 1 "" NA12287 esv271096 8 95863879 95864178 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557022,essv2536907,essv2561704,essv2568938,essv2556242,essv2527846,essv2529508,essv2538765,essv2526715,essv2574865,essv2572909,essv2568632 M 157 12 0 Samples from several populations that are part of the HapMap project. DPY19L4 NA18501,NA18517,NA18523,NA18861,NA18871,NA18907,NA19093,NA19108,NA19114,NA19138,NA19143,NA19147 nsv6314 8 95941110 95975296 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8528 S 9 1 0 CCNE2,INTS8 NA12156 dgv7835n71 8 95952408 96034311 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891204,nsv891203 M 6533 0 2 CCNE2,INTS8,TP53INP1 MS11249,MS15749 nsv508520 8 96008549 96209244 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622600,nssv622599,nssv618838 M 4 0 2 C8orf38,MIR3150A,MIR3150B,TP53INP1 NA10860,NA18994 nsv818645 8 96037014 96043549 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416463 S 112 0 1 "" NA18516 nsv524876 8 96070095 96096482 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700881 S 2026 1 0 "" esv25638 8 96118277 96123915 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13359 S 451 0 1 C8orf38 NA18858 nsv891205 8 96131777 96184652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566408 S 6533 0 1 C8orf38,MIR3150A,MIR3150B IS30694 esv271936 8 96141385 96141725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518567,essv2514370 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12874 esv24383 8 96148480 96150867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12665 S 451 0 3 "" NA18517,NA19129,NA19190 esv2294235 8 96155636 96156136 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4962171 S 1 0 1 "" NA18507 esv1385707 8 96161313 96161366 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3919626 S 2 0 1 "" HuRef nsv891206 8 96161427 96184652 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551491 S 6533 0 1 "" MS18910 esv1631884 8 96161607 96161910 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043905 S 2 0 1 "" HuRef nsv891207 8 96175213 96230090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567375 S 6533 1 0 PLEKHF2 IS31070 nsv819397 8 96237431 96246854 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418576 S 2 0 1 PLEKHF2 AK1 nsv397508 8 96242553 96242937 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416086 M 24 "" nsv523655 8 96275096 96308289 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699456 S 2026 0 1 "" esv23589 8 96275327 96313110 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16466 S 451 3 0 "" NA07045,NA12156,NA18916 nsv516035 8 96277902 96304627 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704862,nssv693651,nssv665851 M 2026 1 2 "" nsv6315 8 96285641 96330847 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8529 S 9 0 1 C8orf37 NA12156 nsv465741 8 96290298 96317011 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541489 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00757 esv988068 8 96297493 96304794 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565689 S 3 0 1 "" HuRef nsv525440 8 96323522 96345468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701568 S 2026 0 1 C8orf37 nsv819165 8 96328691 96330039 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419242 S 2 0 1 C8orf37 AK1 esv2436525 8 96413747 96415171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200076 S 1 0 1 LOC100616530 NA18507 esv1924742 8 96414269 96414737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4862283 S 1 0 1 LOC100616530 NA18507 esv3430 8 96414348 96414621 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25871 S 1 0 1 Single Asian sample YH LOC100616530 YH dgv249n6 8 96414432 96414569 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396098,nsv396880,nsv397075 M 24 LOC100616530 esv996664 8 96414491 96414554 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582039 S 3 0 1 LOC100616530 HuRef esv1748335 8 96450206 96451946 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3628020 S 2 0 1 LOC100616530 HuRef nsv465742 8 96513778 96525248 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541490 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100616530 HGDP01297 nsv522163 8 96516902 96524629 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694936 S 2026 0 1 LOC100616530 esv2752270 8 96519623 96528370 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984155,essv6984156,essv6989919 M 771 0 1 LOC100616530 BEC_789 esv28209 8 96521277 96521957 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15696 S 451 1 0 LOC100616530 NA15510 nsv6316 8 96522794 96557131 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv758 S 9 1 0 LOC100616530 NA19240 nsv398341 8 96534687 96543089 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416919 M 24 LOC100616530 esv268457 8 96536937 96537266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565898,essv2571667,essv2521239,essv2522741,essv2556682,essv2568241,essv2523448,essv2531991,essv2570568,essv2553986,essv2552263,essv2547505,essv2577781,essv2559695,essv2520061,essv2564291,essv2537614,essv2528318,essv2546769,essv2556948,essv2552497,essv2551753,essv2562560,essv2578679,essv2539231,essv2569825,essv2527136,essv2541981,essv2551019,essv2569195,essv2528057,essv2539443,essv2575427,essv2574980,essv2538719,essv2526325,essv2574696,essv2530444,essv2545166,essv2560294,essv2571556,essv2546003,essv2574068,essv2551624,essv2536031,essv2538017,essv2547775,essv2524872 M 157 48 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA06986,NA07000,NA07347,NA07357,NA11829,NA11840,NA11894,NA11931,NA11994,NA11995,NA12004,NA12006,NA12044,NA12287,NA12489,NA12717,NA12761,NA12776,NA12815,NA12828,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18507,NA18510,NA18519,NA18520,NA18522,NA18856,NA18858,NA18861,NA18907,NA18912,NA19099,NA19102,NA19108,NA19114,NA19138,NA19141,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv272682 8 96536937 96537266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582135,essv2582562 M 7 2 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA12878,NA12891 esv269870 8 96539922 96540007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513920 S 157 1 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA19143 nsv465743 8 96541599 96587380 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541491 S 1557 0 1 LOC100616530 1782681195_A esv272463 8 96543060 96543377 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580712,essv2579453 M 7 2 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA19238,NA19240 esv268670 8 96543072 96543334 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522906,essv2556745,essv2547383,essv2529224,essv2520120,essv2552627,essv2551646,essv2569420,essv2578730,essv2550220,essv2536838,essv2550985,essv2543700,essv2562191,essv2529615,essv2524148,essv2574677,essv2572811,essv2568533,essv2560377,essv2549812,essv2571218,essv2574374 M 157 23 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA11931,NA11994,NA12717,NA12749,NA12815,NA18502,NA18504,NA18508,NA18510,NA18511,NA18517,NA18858,NA18870,NA18909,NA19093,NA19129,NA19138,NA19143,NA19147,NA19190,NA19225,NA19238,NA19240 nsv891208 8 96632225 96655791 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532626 S 6533 1 0 LOC100616530 MS10797 nsv891209 8 96644151 96689580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534711 S 6533 0 1 LOC100616530 MS11726 nsv465744 8 96652727 96665530 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541492 S 1557 0 1 LOC100616530 1780862001_A esv6699 8 96685889 96685987 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29140 S 1 1 0 LOC100616530 SJK esv274143 8 96726422 96726762 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579885,essv2580819,essv2579692 M 7 3 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA12892,NA19238,NA19240 esv267544 8 96726425 96726764 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576112,essv2571586,essv2526164,essv2570914,essv2556631,essv2570541,essv2548271,essv2550298,essv2552250,essv2520405,essv2529223,essv2563960,essv2561847,essv2546873,essv2557168,essv2552542,essv2532369,essv2569445,essv2536870,essv2561620,essv2562900,essv2523678,essv2552811,essv2541172,essv2538225,essv2540543,essv2524656,essv2564978,essv2549134,essv2519545,essv2559790,essv2521995,essv2565968,essv2567722,essv2528843,essv2567376,essv2541693,essv2570162,essv2553509,essv2535818,essv2551072,essv2527872,essv2567164,essv2566618,essv2530019,essv2574039,essv2527704,essv2555888,essv2573652,essv2525799,essv2526904,essv2529678,essv2575422,essv2524020,essv2574784,essv2572727,essv2560327,essv2549608,essv2571485,essv2574405,essv2536169,essv2525090,essv2558167 M 157 63 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA06986,NA07357,NA10851,NA11830,NA11840,NA11918,NA11993,NA11994,NA12044,NA12045,NA12234,NA12489,NA12716,NA12749,NA12828,NA12874,NA12892,NA18501,NA18502,NA18505,NA18508,NA18517,NA18523,NA18532,NA18537,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18858,NA18907,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18964,NA18980,NA19005,NA19093,NA19099,NA19129,NA19138,NA19143,NA19190,NA19225,NA19238,NA19240 esv1524902 8 96726456 96726456 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999225 S 2 1 0 LOC100616530 HuRef esv270973 8 96852676 96853029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565653,essv2571782,essv2546197,essv2521154,essv2526081,essv2542280,essv2536423,essv2522867,essv2568338,essv2548625,essv2550617,essv2525336,essv2535017,essv2544517,essv2520374,essv2547246,essv2564434,essv2577772,essv2553683,essv2559425,essv2564031,essv2537300,essv2547016,essv2520902,essv2557196,essv2552550,essv2578673,essv2558940,essv2527117,essv2561331,essv2542636,essv2524589,essv2539793,essv2549265,essv2559888,essv2566284,essv2531186,essv2532907,essv2567929,essv2528874,essv2567347,essv2541538,essv2569868,essv2535553,essv2572572,essv2559271,essv2568851,essv2528002,essv2539332,essv2534025,essv2578340,essv2533565,essv2530103,essv2527631,essv2555948,essv2534397,essv2522451,essv2573607,essv2543332,essv2572146,essv2525547,essv2526891,essv2529505,essv2538585,essv2526319,essv2560603,essv2524168,essv2568818,essv2560215,essv2571091,essv2545853,essv2574512,essv2551311,essv2536136,essv2538018,essv2548837,essv2554409,essv2525000,essv2563252 M 157 79 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA06986,NA07000,NA07037,NA07346,NA07357,NA10847,NA11829,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11995,NA12045,NA12155,NA12156,NA12249,NA12414,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12828,NA12878,NA12892,NA18498,NA18501,NA18502,NA18510,NA18516,NA18522,NA18523,NA18550,NA18555,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18608,NA18609,NA18638,NA18861,NA18907,NA18912,NA18916,NA18940,NA18944,NA18949,NA18952,NA18956,NA18959,NA18960,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19108,NA19114,NA19116,NA19129,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272879 8 96852681 96853032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582050,essv2582566,essv2583905,essv2584678,essv2583818 M 7 5 0 Samples from several populations that are part of the HapMap project. LOC100616530 NA12878,NA12891,NA19238,NA19239,NA19240 nsv397435 8 96875030 96884242 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416013 M 24 LOC100616530 essv14665 8 96892887 96916149 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19145 nsv522677 8 96915454 96924940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706084 S 2026 0 1 "" nsv525944 8 96922591 96932613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702150 S 2026 0 1 "" esv2422079 8 96923538 96926233 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5056244,essv5106941,essv5012135,essv5154538,essv5056042,essv5152841,essv5046712,essv5090857,essv5054839,essv5103472,essv5066553,essv5066048,essv5033267,essv5111530,essv5045838,essv5147890,essv5153265,essv5060420,essv5121643,essv5144778,essv5123992,essv5130008,essv5108321,essv5056163,essv5083568,essv5018983,essv5038646,essv5153515,essv5111655,essv5059251,essv5077797,essv5046227,essv5107715,essv5056680,essv5092705,essv5123933,essv5123545,essv5112682,essv5087361,essv5121759,essv5004079,essv5061034,essv5025056,essv5109540,essv5059562,essv5075242,essv5133295 M 1184 0 47 "" NA18870,NA18872,NA18923,NA18925,NA18933,NA19036,NA19093,NA19095,NA19118,NA19174,NA19181,NA19189,NA19210,NA19247,NA19314,NA19379,NA19398,NA19404,NA19428,NA19429,NA19451,NA20345,NA20347,NA20363,NA20364,NA21300,NA21311,NA21333,NA21362,NA21384,NA21388,NA21389,NA21399,NA21402,NA21404,NA21447,NA21454,NA21455,NA21493,NA21494,NA21520,NA21526,NA21576,NA21613,NA21617,NA21631,NA21689 nsv437629 8 96923538 96927197 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467510 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 nsv442114 8 96923541 96926233 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv516316 8 96923821 96924940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679289,nssv661506,nssv655745,nssv690361,nssv689780,nssv656154,nssv667538 M 2026 0 7 "" nsv515115 8 96924272 96926136 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627979 S 1414 0 1 "" nsv6317 8 96929575 96987460 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5118,nssv759 M 9 0 2 "" NA19129,NA19240 esv2584300 8 96943809 96949502 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285638 S 1 0 1 "" NA18507 nsv436584 8 96944202 96950175 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466483 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2242335 8 96944219 96948928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4868100 S 1 0 1 "" NA18507 esv28811 8 96944244 96948758 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19822 S 451 0 18 "" NA12828,NA12878,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv499297 8 96944401 96948770 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586093 S 9 0 1 "" esv2627790 8 96944575 96946881 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180321 S 1 0 1 "" NA18507 nsv515116 8 96944944 96946192 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627980 S 1414 0 1 "" nsv831402 8 96955451 97126165 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447400,nssv1447399 M 95 1 1 LOC100500773 esv6511 8 97091560 97091641 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28952 S 1 1 0 "" SJK esv2614250 8 97166569 97168218 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212527 S 1 0 1 "" NA18507 esv2272737 8 97167073 97167804 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708792 S 1 0 1 "" NA18507 esv3193 8 97167229 97167682 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25634 S 1 0 1 Single Asian sample YH "" YH esv9391 8 97167263 97167596 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31832 S 1 0 1 "" SJK esv1624574 8 97167264 97167616 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839966 S 2 0 1 "" HuRef nsv397239 8 97167265 97167616 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415817 M 24 "" nsv6318 8 97300405 97327177 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3679 S 9 1 0 MTERFD1,UQCRB NA12878 esv24857 8 97332146 97332600 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10847 S 451 0 3 MTERFD1 NA07045,NA11995,NA18505 nsv6319 8 97352965 97385069 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5119 S 9 1 0 PTDSS1 NA19129 nsv6320 8 97412550 97437829 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2796 S 9 1 0 PTDSS1 NA18555 nsv526171 8 97431010 97565172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702432 S 2026 1 0 "" esv4555 8 97484252 97484537 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26996 S 1 0 1 Single Asian sample YH "" YH nsv831404 8 97495439 97666911 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447401 S 95 1 0 SDC2 nsv515603 8 97531391 97532234 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668933,nssv656486,nssv664056 M 2026 0 3 "" nsv519431 8 97546132 97588101 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696850 S 2026 1 0 SDC2 esv2095924 8 97558656 97559103 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922645 S 1 0 1 "" NA18507 nsv824691 8 97583311 97583951 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438955,nssv1438280,nssv1427585 M 31 3 0 SDC2 NA18951,NA18968,NA18973 esv1008392 8 97583856 97583961 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582389 S 3 0 1 SDC2 HuRef nsv824692 8 97589187 97590998 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432191,nssv1425896 M 31 2 0 SDC2 AK20,AK4 nsv821376 8 97589187 97591154 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420772 S 1 0 1 SDC2 NA10851 esv27431 8 97589243 97591135 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13348,esv15855 M 451 24 1 SDC2 NA11931,NA11995,NA12044,NA12156,NA12239,NA12414,NA12489,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv824693 8 97589243 97591154 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426823,nssv1428437 M 31 0 2 SDC2 AK10,AK6 nsv819080 8 97589615 97591204 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419288 S 2 1 0 SDC2 AK1 esv7356 8 97589872 97591092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29797 S 1 0 1 SDC2 SJK dgv7836n71 8 97591763 97618876 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891210,nsv891211 M 6533 0 2 SDC2 MS13011,MS24736 esv2537308 8 97654088 97655173 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265505 S 1 1 0 SDC2 NA18507 esv1386401 8 97654742 97654742 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954449 S 2 1 0 SDC2 HuRef nsv396800 8 97654742 97654742 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415378 M 24 SDC2 nsv6322 8 97671325 97715742 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4614 S 9 0 1 SDC2 NA19129 nsv507475 8 97679001 97685001 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617773 S 4 1 0 SDC2 CHM nsv6323 8 97718550 97751233 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6245 S 9 1 0 PGCP NA12156 esv33454 8 97720501 97720650 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95734 S 51 0 1 "" 21841 esv33311 8 97720501 97724641 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100893 S 51 0 1 "" 21656 nsv891212 8 97768466 98119687 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525218 S 6533 0 1 PGCP SP56367 esv2624426 8 97860685 97862240 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5252519 S 1 0 1 PGCP NA18507 esv1926609 8 97869059 97869482 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963132 S 1 0 1 PGCP NA18507 nsv510160 8 97920717 97926717 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618296,nssv621341 M 4 0 2 PGCP CHM,NA15510 nsv6324 8 97977108 98006557 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1763 S 9 1 0 PGCP NA18555 esv6290 8 98062247 98062328 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28731 S 1 1 0 PGCP SJK nsv820234 8 98224860 98225094 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419370 S 2 0 1 PGCP AK1 nsv522477 8 98263065 98279184 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705843 S 2026 0 1 "" esv2591588 8 98268796 98270255 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351946 S 1 0 1 "" NA18507 esv2357310 8 98269131 98269842 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4589228 S 1 0 1 "" NA18507 esv3834 8 98269293 98269783 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26275 S 1 0 1 Single Asian sample YH "" YH nsv520129 8 98316100 98320814 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697239 S 2026 0 1 "" esv272003 8 98339946 98340277 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494220,essv2496575,essv2508422,essv2507112,essv2495115,essv2509588 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18510,NA18582,NA18870,NA18964,NA19129 nsv510161 8 98381173 98387173 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624071 S 4 0 1 "" NA18994 esv2632894 8 98417064 98417934 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377153 S 1 1 0 "" NA18507 esv267834 8 98417475 98417759 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545589,essv2557315,essv2569527,essv2537124,essv2561376,essv2566845,essv2556185,essv2529736,essv2572698,essv2549705,essv2533065 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA12003,NA18499,NA18508,NA18517,NA18523,NA18853,NA18871,NA19093,NA19143,NA19225 nsv521434 8 98426558 98427422 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698045 S 2026 0 1 "" nsv522488 8 98426558 98429188 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705855 S 2026 0 1 "" nsv523469 8 98469164 98469831 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699228 S 2026 0 1 "" esv2752271 8 98618400 98809595 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986331,essv6988617,essv6983035,essv6983034 M 771 1 0 MTDH BEC_535 esv2608585 8 98663827 98665385 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5363314 S 1 0 1 "" NA18507 esv2126740 8 98664389 98665108 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644310 S 1 0 1 "" NA18507 esv2924 8 98664502 98665065 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25365 S 1 0 1 Single Asian sample YH "" YH esv1008941 8 98664572 98664910 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582520 S 3 0 1 "" HuRef esv1167210 8 98664585 98664924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714779 S 2 0 1 "" HuRef nsv397972 8 98664586 98664924 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416550 M 24 "" esv8800 8 98664587 98664910 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31241 S 1 0 1 "" SJK nsv397699 8 98668752 98668752 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416277 M 24 "" esv1206138 8 98668938 98668938 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772106 S 2 1 0 "" HuRef nsv6325 8 98700480 98745218 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8531 S 9 0 1 MTDH NA12156 nsv526913 8 98810881 98857662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703274 S 2026 0 1 LAPTM4B,MTDH nsv526544 8 98812839 98833969 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702858 S 2026 0 1 "" nsv517493 8 98833969 98857662 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674186,nssv681846,nssv674109,nssv688803,nssv687421,nssv688080,nssv668606,nssv657014,nssv683356,nssv652187,nssv667539,nssv682504 M 2026 0 12 LAPTM4B nsv891213 8 98835610 98889907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560857 S 6533 0 1 LAPTM4B MS24736 dgv42e194 8 98852437 98853159 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2305117,esv2338678 M 1 0 1 "" NA18507 esv5161 8 98852565 98853031 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27602 S 1 0 1 Single Asian sample YH "" YH nsv396425 8 98852625 98852956 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415003 M 24 "" esv7889 8 98852631 98852959 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30330 S 1 0 1 "" SJK nsv891214 8 98918479 99059575 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524037 S 6533 1 0 LAPTM4B,MATN2 SP54802 esv23644 8 98931257 98932492 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15576 S 451 0 2 LAPTM4B NA19108,NA19240 nsv891215 8 98979463 99049839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526669 S 6533 1 0 MATN2 SP57701 nsv528695 8 99029989 99091185 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705340 S 2026 1 0 MATN2 esv26559 8 99086306 99094411 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15294 S 451 1 0 MATN2 NA07045 nsv465745 8 99131168 99185377 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541493 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf47,HRSP12 HGDP01047 nsv507476 8 99138582 99144582 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620424 S 4 1 0 "" NA15510 nsv398164 8 99154833 99154882 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416742 M 24 C8orf47 dgv250n6 8 99154839 99154924 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396193,nsv396218,nsv396152 M 24 C8orf47 nsv465746 8 99157427 99186708 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541494 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf47,HRSP12 HGDP01053 nsv831405 8 99164415 99330110 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447402 S 95 1 0 C8orf47,HRSP12,NIPAL2,POP1 nsv465747 8 99174902 99208786 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541495 S 1557 1 0 C8orf47,HRSP12,POP1 1782681495_A nsv524078 8 99178976 99179299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699947 S 2026 0 1 "" nsv891216 8 99222336 99278424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594307 S 6533 0 1 NIPAL2,POP1 IS39783 esv21509 8 99238866 99269147 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14716 S 451 1 0 POP1 NA07045 nsv6326 8 99290850 99332863 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8532 S 9 0 1 NIPAL2 NA12156 nsv397166 8 99325671 99325750 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415744 M 24 NIPAL2 esv1594433 8 99325738 99325818 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4250567 S 2 0 1 NIPAL2 HuRef nsv831406 8 99359921 99551252 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447403 S 95 0 1 KCNS2,NIPAL2,STK3 esv25727 8 99383365 99384760 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12554 S 451 0 1 "" NA12239 nsv891217 8 99415713 99460461 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585401 S 6533 0 1 "" IS37443 esv23952 8 99426390 99428543 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17785 S 451 0 1 "" NA19225 nsv515633 8 99443835 99448435 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680137,nssv664178 M 2026 0 2 "" esv2461249 8 99533634 99535079 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218966 S 1 0 1 "" NA18507 nsv891218 8 99576489 99975397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597942 S 6533 0 1 STK3 IS41113 nsv891219 8 99595995 99712663 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512942 S 6533 0 1 STK3 SP55655 nsv891220 8 99751034 99936595 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550463 S 6533 1 0 STK3 MS18431 esv2652228 8 99767603 99769039 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276135 S 1 0 1 STK3 NA18507 nsv507477 8 99875593 99881593 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617774,nssv620425,nssv621921,nssv623050 M 4 4 0 STK3 CHM,NA10860,NA15510,NA18994 nsv6327 8 99988810 100033739 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5120 S 9 0 1 OSR2 NA19129 nsv515049 8 100004024 100007760 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627982 S 1414 1 0 "" esv24438 8 100004702 100005651 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12732 S 451 0 1 "" NA18523 nsv891221 8 100085681 100225567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513083 S 6533 0 1 VPS13B SP55683 dgv2245e1 8 100098024 100265857 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv872,essv21732,essv16993,essv11718,essv4857,essv5338,essv10358,essv9929,essv8248 M 271 0 0 VPS13B NA12248,NA18506,NA18540,NA18563,NA19000,NA19116,NA19144,NA19145,NA19154 nsv524617 8 100102020 100787101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700578 S 2026 0 1 MIR599,MIR875,VPS13B esv1037958 8 100109934 100110035 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658375 S 2 0 1 VPS13B HuRef esv1158340 8 100110126 100110282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4122259 S 2 0 1 VPS13B HuRef nsv891222 8 100162686 100190792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501362 S 6533 0 1 VPS13B SP51051 nsv821659 8 100216817 100439005 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421215 S 31 0 1 VPS13B esv6620 8 100227099 100227206 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29061 S 1 0 0 VPS13B SJK nsv6328 8 100232706 100264916 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6246 S 9 1 0 VPS13B NA12156 esv27193 8 100282732 100297707 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14070 S 451 1 0 VPS13B NA12044 nsv891223 8 100301548 100353286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514442 S 6533 0 1 VPS13B SP56004 nsv891224 8 100301548 100405268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513084 S 6533 0 1 VPS13B SP55683 nsv891225 8 100319429 100355456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515606 S 6533 0 1 VPS13B SP56224 nsv831407 8 100353582 100517901 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447404 S 95 0 1 VPS13B nsv891226 8 100364810 100777771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567963 S 6533 0 1 MIR599,MIR875,VPS13B IS31179 nsv891227 8 100364810 100812732 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550464 S 6533 1 0 MIR599,MIR875,VPS13B MS18431 esv2471268 8 100447805 100449366 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319883 S 1 0 1 VPS13B NA18507 dgv2246e1 8 100473327 100604045 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16652,essv10993,essv12369,essv23819,essv19208,essv24807,essv17942,essv10287 M 271 0 0 VPS13B NA10838,NA10860,NA12003,NA12763,NA18506,NA19138,NA19142,NA19143 dgv2247e1 8 100473327 100731377 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6365,essv4772,essv11680,essv20376,essv7113,essv4385,essv4081,essv23367 M 271 0 0 MIR599,MIR875,VPS13B NA10830,NA12750,NA18537,NA18573,NA18609,NA18620,NA18635,NA19154 essv20276 8 100473327 100907800 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR599,MIR875,VPS13B NA12144 nsv831408 8 100592699 100790683 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447405 S 95 0 1 MIR599,MIR875,VPS13B nsv891228 8 100601584 100615354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501245 S 6533 0 1 VPS13B SP50954 nsv396580 8 100705413 100713139 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415158 M 24 VPS13B nsv8368 8 100705541 100709656 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16706 S 31 0 1 Samples from several populations that are part of the HapMap project. VPS13B NA19007 esv28492 8 100767500 100770687 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20740 S 451 0 1 VPS13B NA18502 nsv523290 8 100777771 100787101 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699030 S 2026 0 1 VPS13B esv269230 8 100851736 100851908 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518843 S 157 1 0 Samples from several populations that are part of the HapMap project. VPS13B NA12045 esv2431771 8 100921466 100922585 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244958 S 1 1 0 VPS13B NA18507 nsv396852 8 100931314 100931381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415430 M 24 VPS13B esv1205143 8 101132965 101133033 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4094356 S 2 0 1 RGS22 HuRef esv1068346 8 101133224 101133278 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927311 S 2 0 1 RGS22 HuRef esv2466799 8 101174385 101176018 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381780 S 1 0 1 RGS22 NA18507 nsv396616 8 101180250 101180310 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415194 M 24 RGS22 nsv6329 8 101255861 101300564 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8533 S 9 0 1 SPAG1 NA12156 nsv820040 8 101338505 101341204 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419467 S 2 0 1 RNF19A AK1 nsv509275 8 101480286 101557910 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620912,nssv623544 M 4 2 0 "" NA15510,NA18994 nsv527071 8 101654425 101665082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703450 S 2026 0 1 SNX31 nsv438073 8 101727812 101728344 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470022 S 269 0 1 Samples from several populations that are part of the HapMap project. SNX31 NA06985 esv2050419 8 101786991 101788206 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4739131 S 1 0 1 PABPC1 NA18507 nsv824694 8 101801558 101809105 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428438 S 31 1 0 PABPC1 AK10 esv271885 8 101872996 101876767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516982 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11931 esv2752193 8 101882000 101984143 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985408,essv6980781,essv6980782 M 771 1 0 "" BEC_149 esv988605 8 101959632 101959699 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583620 S 3 0 1 "" HuRef nsv396135 8 101959697 101959764 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414713 M 24 "" nsv831409 8 102005665 102162609 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447408 S 95 0 1 FLJ42969,YWHAZ nsv508521 8 102028687 102069935 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617364 S 4 0 1 YWHAZ CHM nsv396890 8 102044507 102045209 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415468 M 24 "" esv2422023 8 102052370 102065051 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013512,essv5068883,essv5150156,essv5145576,essv5118861,essv5075203,essv5114393,essv5107189,essv5159126,essv5141237,essv5082648,essv5137372,essv5130116,essv5130537,essv5073311,essv5020121,essv5080117,essv5160498,essv5119959,essv5098154,essv5049969,essv5045552,essv5079739,essv5115506,essv5011055,essv5144607,essv5129854,essv5089609,essv5118578 M 1184 0 29 "" NA17987,NA18101,NA18132,NA18136,NA18138,NA18153,NA18487,NA18509,NA18510,NA18537,NA18543,NA18576,NA18594,NA18631,NA18694,NA19107,NA19109,NA19128,NA19189,NA19373,NA19374,NA19391,NA19700,NA20332,NA21308,NA21309,NA21513,NA21514,NA21517 nsv824695 8 102054166 102062214 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441151,nssv1439797 M 31 0 2 "" NA18537,NA18547 nsv442115 8 102057367 102061693 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv519968 8 102057402 102063590 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689297,nssv679208,nssv659727 M 2026 0 3 "" nsv515050 8 102059088 102062072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627983 S 1414 0 1 "" nsv523235 8 102083768 102110206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698959 S 2026 0 1 "" nsv524119 8 102087563 102156725 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699997 S 2026 1 0 FLJ42969 nsv465748 8 102178213 102200916 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541496 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00772 nsv6330 8 102211034 102244557 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3680 S 9 1 0 "" NA12878 nsv831410 8 102246501 102392370 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447409 S 95 1 0 ZNF706 nsv6331 8 102329783 102359585 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1764 S 9 1 0 "" NA18555 nsv824696 8 102361987 102362855 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428439 S 31 0 1 "" AK10 esv29155 8 102362101 102363860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20277 S 451 0 1 "" NA19129 esv25629 8 102443403 102444063 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14651 S 451 0 1 "" NA19190 esv2421675 8 102457214 102472118 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5035683,essv5102832,essv5159263,essv5012950,essv5104786,essv5091124,essv5107660,essv5079882,essv5039152,essv5132473,essv5029642,essv5013276 M 1184 0 12 "" NA18910,NA19117,NA19140,NA19456,NA20282,NA20357,NA21300,NA21356,NA21520,NA21613,NA21616,NA21617 nsv6333 8 102462104 102492830 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5121 S 9 1 0 "" NA19129 essv7888 8 102462222 102471681 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19140 nsv520170 8 102463356 102467091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680062,nssv661339 M 2026 0 2 "" nsv519060 8 102516263 102516747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696531 S 2026 0 1 "" nsv521805 8 102535237 102536556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694575 S 2026 0 1 "" nsv891229 8 102559556 102580846 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518154 S 6533 0 1 GRHL2 SP57469 esv2252185 8 102590342 102590754 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4620746 S 1 0 1 GRHL2 NA18507 nsv396225 8 102590562 102590562 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414803 M 24 GRHL2 esv1282337 8 102590611 102590611 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3869686 S 2 1 0 GRHL2 HuRef esv991268 8 102590611 102590612 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571703 S 3 1 0 GRHL2 HuRef nsv891230 8 102638485 102673482 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550465 S 6533 1 0 GRHL2 MS18431 nsv396957 8 102667495 102673504 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415535 M 24 GRHL2 dgv2248e1 8 102678650 102718857 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9306,essv14849 M 271 0 0 GRHL2 NA18852,NA19119 esv28138 8 102688456 102695927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13338 S 451 0 7 GRHL2 NA18861,NA18916,NA19099,NA19108,NA19190,NA19240,NA19257 nsv8370 8 102689349 102696042 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18028,nssv18901 M 31 0 2 Samples from several populations that are part of the HapMap project. GRHL2 NA19144,NA19240 nsv442525 8 102689782 102694888 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 GRHL2 esv2421697 8 102689782 102697088 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083294,essv5096144,essv5050191,essv5134739,essv5058121,essv5137602,essv5015971,essv5109944,essv5100174,essv5070664,essv5049930,essv5039331,essv5065539,essv5041119,essv5155571,essv5013520,essv5007638,essv5099534,essv5062343,essv5118078,essv5080927,essv5040174,essv5050998,essv5058713,essv5144360,essv5141378,essv5077048,essv5123027,essv5092197,essv5023457,essv5082265,essv5133964,essv5103438,essv5130081,essv5053471,essv5149621,essv5043210,essv5020921,essv5149878,essv5144231,essv5017523,essv5102065,essv5111804,essv5157983,essv5148093,essv5051368,essv5156345,essv5157930,essv5108400,essv5002127,essv5054485,essv5049071,essv5049259,essv5087681,essv5029895,essv5085179,essv5057802,essv5116139,essv5094281,essv5140170,essv5046160,essv5122402,essv5123612,essv5008140,essv5026016,essv5131896,essv5016271,essv5018237,essv5069117,essv5054079,essv5003706,essv5032982,essv5049995,essv5063120,essv5112077,essv5149954,essv5145114 M 1184 0 77 GRHL2 NA12248,NA18852,NA18854,NA18855,NA18861,NA18863,NA18870,NA18872,NA18875,NA18917,NA18930,NA19093,NA19096,NA19099,NA19107,NA19108,NA19109,NA19118,NA19119,NA19121,NA19123,NA19138,NA19144,NA19146,NA19179,NA19185,NA19190,NA19191,NA19192,NA19193,NA19204,NA19206,NA19210,NA19211,NA19224,NA19226,NA19240,NA19248,NA19249,NA19256,NA19257,NA19258,NA19309,NA19347,NA19352,NA19359,NA19360,NA19375,NA19398,NA19434,NA19448,NA19451,NA19702,NA19713,NA19773,NA19914,NA20276,NA20282,NA20284,NA20335,NA20347,NA20356,NA20773,NA21295,NA21303,NA21333,NA21418,NA21434,NA21453,NA21455,NA21479,NA21487,NA21523,NA21611,NA21685,NA21693,NA21826 essv9539 8 102689866 102693736 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. GRHL2 NA18861 nsv515051 8 102690208 102694696 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627984 S 1414 0 1 GRHL2 esv2605083 8 102833818 102834833 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298744 S 1 1 0 NCALD NA18507 esv269392 8 102834339 102834424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519065,essv2515224,essv2518211 M 157 3 0 Samples from several populations that are part of the HapMap project. NCALD NA19141,NA19238,NA19240 esv274627 8 102834349 102834674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584281,essv2583506 M 7 2 0 Samples from several populations that are part of the HapMap project. NCALD NA19238,NA19240 dgv466n21 8 102910207 102962802 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523850,nsv518162 M 2026 0 2 NCALD nsv465749 8 102916378 102998636 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541497 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCALD HGDP00625 nsv507478 8 102936757 102942757 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623051,nssv621922,nssv620426 M 4 3 0 NCALD NA10860,NA15510,NA18994 nsv831411 8 103007167 103177316 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447410 S 95 1 0 NCALD nsv891231 8 103071090 103145555 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536060 S 6533 1 0 NCALD MS12608 dgv7837n71 8 103071090 103231814 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891232,nsv891235,nsv891233 M 6533 3 0 NCALD MS17204,MS17223,MS25699 dgv7838n71 8 103089567 103182877 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891234,nsv891237 M 6533 2 0 NCALD MS18226,MS24605 nsv891236 8 103109093 103139477 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562613 S 6533 1 0 NCALD MS25674 nsv8371 8 103122170 103126455 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19881 S 31 0 1 Samples from several populations that are part of the HapMap project. NCALD NA18860 esv21888 8 103123134 103125883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12564 S 451 0 1 NCALD NA18858 nsv438074 8 103123275 103124395 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470025,nssv470027,nssv470026,nssv470023,nssv470024 M 269 0 5 Samples from several populations that are part of the HapMap project. NCALD NA18522,NA18858,NA18860,NA19138,NA19139 nsv517149 8 103123275 103125693 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653872,nssv685501,nssv681629,nssv682074,nssv678653,nssv659209,nssv664860,nssv660548,nssv688273,nssv658907,nssv655515,nssv675341,nssv683250,nssv671098,nssv690356,nssv683718,nssv682502,nssv662033,nssv686119,nssv665506,nssv658519,nssv661210,nssv661033,nssv659728,nssv666804,nssv664461,nssv653396,nssv653347 M 2026 0 28 NCALD nsv818646 8 103123275 103125693 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416946,nssv1416947 M 112 0 2 NCALD NA19138,NA19139 esv2421949 8 103123275 103125882 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5109723,essv5102740,essv5054583,essv5011574,essv5046029,essv5085831,essv5131385,essv5108163,essv5004829,essv5139429,essv5103217,essv5046829,essv5102777,essv5010784,essv5034890,essv5025674,essv5061248,essv5152157,essv5049839,essv5057274,essv5055856,essv5099115,essv5154103,essv5149131,essv5018944,essv5061462,essv5005965,essv5024334,essv5070552,essv5160509,essv5119570,essv5030215,essv5149588,essv5096491,essv5061726,essv5133581,essv5078384,essv5136081,essv5084597,essv5085524,essv5091842,essv5122344,essv5052241,essv5142554 M 1184 0 44 NCALD NA18561,NA18858,NA18860,NA18873,NA18874,NA19044,NA19107,NA19109,NA19138,NA19139,NA19185,NA19198,NA19394,NA19429,NA19440,NA19445,NA19449,NA19452,NA19462,NA19661,NA19662,NA19685,NA19686,NA19777,NA19921,NA20342,NA20815,NA21316,NA21317,NA21333,NA21355,NA21357,NA21379,NA21382,NA21390,NA21434,NA21479,NA21521,NA21526,NA21527,NA21573,NA21599,NA21600,NA21601 nsv891238 8 103124696 103186135 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552387 S 6533 1 0 NCALD MS19372 dgv7839n71 8 103125693 103231814 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891239,nsv891241,nsv891240 M 6533 3 0 NCALD MS10591,MS20919,MS25674 nsv517893 8 103191165 103192213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695301 S 2026 0 1 NCALD nsv523654 8 103191165 103193388 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699455 S 2026 1 0 NCALD nsv6334 8 103235263 103270465 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv760 S 9 1 0 "" NA19240 esv2493374 8 103244554 103246027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171048 S 1 0 1 "" NA18507 dgv7840n71 8 103280147 103361900 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891243,nsv891242 M 6533 2 0 RRM2B,UBR5 MS13553,MS18431 nsv528486 8 103349098 103442480 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705090 S 2026 0 1 UBR5 esv25807 8 103357273 103358029 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18220 S 451 0 1 UBR5 NA07037 nsv891244 8 103379038 103552642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550467 S 6533 1 0 UBR5 MS18431 nsv6335 8 103391032 103422906 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6247 S 9 1 0 UBR5 NA12156 nsv831412 8 103406372 103605573 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447411 S 95 1 0 UBR5 esv33118 8 103427743 104137348 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98614 S 51 0 1 ATP6V1C1,AZIN1,KLF10,ODF1,UBR5 22085 esv2435539 8 103503921 103505235 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242242 S 1 0 0 "" NA18507 nsv523096 8 103560090 103567964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698788 S 2026 0 1 "" esv22177 8 103640114 103641701 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20054 S 451 0 2 ODF1 NA18505,NA18861 esv1324378 8 103713345 103713345 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4216968 S 2 1 0 "" HuRef nsv520922 8 103847985 103849762 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697690 S 2026 0 1 "" nsv519814 8 103847985 103876090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697065 S 2026 0 1 "" nsv525735 8 103874273 103876090 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701900 S 2026 0 1 "" nsv891245 8 103907180 103976429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550468 S 6533 1 0 AZIN1 MS18431 esv990300 8 103949306 103949309 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584461 S 3 1 0 "" HuRef esv1791071 8 103949310 103949310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360084 S 2 1 0 "" HuRef nsv891246 8 103998116 104036870 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528365 S 6533 1 0 "" SP81203 nsv512057 8 104009035 104011550 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624609 S 1 0 1 "" 1 esv2571691 8 104009318 104011027 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352475 S 1 0 1 "" NA18507 esv1577343 8 104009910 104010156 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911288 S 2 0 1 "" HuRef nsv465752 8 104023166 104048890 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541499 S 1557 0 1 "" 1780862484_A nsv824699 8 104062865 104068061 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432192 S 31 1 0 "" AK20 nsv820937 8 104063542 104066161 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420773 S 1 0 1 "" NA10851 nsv515052 8 104063904 104065696 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627985 S 1414 0 1 "" esv22465 8 104063932 104065762 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20735 S 451 29 2 "" NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 nsv831413 8 104154317 104338965 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447412,nssv1447413 M 95 2 0 ATP6V1C1,BAALC,C8orf56,LOC100499183,MIR3151 nsv891247 8 104160155 104191038 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557111 S 6533 1 0 "" MS22393 nsv521033 8 104162535 104179751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697745 S 2026 0 1 "" nsv437077 8 104201341 104202402 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466958 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 esv21700 8 104251295 104314705 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14660 S 451 1 0 BAALC,LOC100499183 NA12156 nsv527031 8 104390104 104403014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703406 S 2026 0 1 FZD6 nsv523544 8 104394510 104395399 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699322 S 2026 0 1 FZD6 nsv397277 8 104437571 104443460 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415855 M 24 "" esv2625329 8 104451826 104453419 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178780 S 1 0 1 CTHRC1 NA18507 nsv396392 8 104452076 104452395 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414970 M 24 "" esv1010448 8 104452080 104452399 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567188 S 3 0 1 "" HuRef esv1577681 8 104452090 104452410 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816782 S 2 0 1 "" HuRef esv2313775 8 104529058 104529498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562454 S 1 0 1 "" NA18507 esv275553 8 104759769 104762861 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585124 S 1250 0 1 RIMS2 esv1006039 8 104814787 104819390 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565611 S 3 0 1 RIMS2 HuRef esv28217 8 104827706 104832119 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11887 S 451 0 1 RIMS2 NA19114 esv270976 8 104921805 104922115 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497362,essv2494424,essv2496108,essv2504951,essv2497862,essv2503503,essv2502449,essv2512355,essv2497440,essv2501442 M 157 10 0 Samples from several populations that are part of the HapMap project. RIMS2 NA18545,NA18572,NA18603,NA18942,NA18945,NA18947,NA18948,NA18949,NA18959,NA19093 esv26529 8 104975607 104981860 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12257 S 451 0 3 RIMS2 NA18907,NA18909,NA19114 nsv831415 8 104976933 105184496 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447414 S 95 0 1 RIMS2 dgv7841n71 8 105025881 105146189 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891249,nsv891248 M 6533 0 2 RIMS2 SP53687,SP56004 nsv465753 8 105025881 105205725 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541500 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RIMS2 HGDP00580 nsv819897 8 105056878 105071181 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418643 S 2 0 1 RIMS2 AK1 esv24057 8 105084290 105094450 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19075 S 451 1 0 RIMS2 NA19190 nsv891250 8 105092848 105194848 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506861 S 6533 0 1 RIMS2 SP54409 esv2528242 8 105116485 105117898 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325252 S 1 0 1 RIMS2 NA18507 nsv891251 8 105123622 105352516 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550469 S 6533 1 0 RIMS2 MS18431 esv32618 8 105146754 105148665 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99775 S 51 0 1 RIMS2 22086 nsv6336 8 105169495 105195167 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8534 S 9 1 0 RIMS2 NA12156 nsv891252 8 105176058 105297161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589960 S 6533 1 0 RIMS2 IS38436 nsv831416 8 105206965 105366141 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447415 S 95 1 0 RIMS2 nsv397279 8 105336597 105336697 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415857 M 24 "" nsv507479 8 105366786 105372786 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620427,nssv623052,nssv621923 M 4 3 0 "" NA10860,NA15510,NA18994 nsv6337 8 105496233 105526197 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2797 S 9 1 0 DPYS NA18555 nsv831417 8 105524990 105694784 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447416 S 95 0 1 DPYS,LRP12 nsv508522 8 105601210 105683579 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618839 S 4 0 1 LRP12 NA10860 esv2422460 8 105642552 105815505 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161383 S 181 1 0 LRP12 ND04017 esv2445240 8 105655181 105656514 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5371260 S 1 0 1 LRP12 NA18507 nsv398062 8 105722993 105723058 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416640 M 24 "" nsv824700 8 105811455 105811964 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432193 S 31 1 0 "" AK20 nsv465754 8 105833704 105948008 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541501 S 1557 1 0 "" NINDS_171 nsv528963 8 105896394 105910413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705659 S 2026 0 1 "" nsv517607 8 105901403 105910413 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691299,nssv654141 M 2026 0 2 "" nsv6338 8 105918000 105962918 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8535 S 9 0 1 "" NA12156 esv273452 8 105969613 105969781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580262,essv2579049,essv2579617 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv269013 8 105969621 105969956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565713,essv2540711,essv2521456,essv2548620,essv2550842,essv2535384,essv2520598,essv2558705,essv2559599,essv2519972,essv2555052,essv2528452,essv2552459,essv2532428,essv2550232,essv2536943,essv2538921,essv2527024,essv2523580,essv2541196,essv2522028,essv2566169,essv2531091,essv2541616,essv2566717,essv2542101,essv2550870,essv2556411,essv2527789,essv2578442,essv2555696,essv2567007,essv2522449,essv2543400,essv2575310,essv2538660,essv2526644,essv2523999,essv2568564,essv2545020,essv2560374,essv2545772,essv2574505,essv2551519,essv2554612,essv2525197,essv2563281 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA10847,NA11829,NA11831,NA11894,NA12045,NA12155,NA12249,NA12716,NA12750,NA12776,NA12815,NA12872,NA12891,NA18502,NA18505,NA18511,NA18517,NA18519,NA18522,NA18537,NA18545,NA18571,NA18572,NA18573,NA18592,NA18853,NA18856,NA18858,NA18871,NA18907,NA18940,NA18945,NA18947,NA18960,NA18965,NA19102,NA19108,NA19114,NA19129,NA19147,NA19172,NA19190,NA19239,NA19240,NA19257 nsv510162 8 106018554 106024554 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621342 S 4 0 1 "" NA15510 esv999604 8 106047423 106059131 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563667 S 3 0 1 "" HuRef nsv522524 8 106051022 106051129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705894 S 2026 0 1 "" nsv891253 8 106064061 106320652 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550470 S 6533 1 0 "" MS18431 esv6169 8 106089734 106089829 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28610 S 1 1 0 "" SJK nsv891254 8 106130146 106245043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586249 S 6533 0 1 "" IS37704 nsv465755 8 106177173 106190921 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541502 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01187 dgv7842n71 8 106194647 106311921 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891255,nsv891256 M 6533 0 4 "" IS34797,IS38207,MS19414,MS21814 esv2547330 8 106250241 106251944 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325058 S 1 0 1 "" NA18507 esv1951456 8 106250367 106250984 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654924 S 1 0 1 "" NA18507 esv6355 8 106250571 106250908 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28796 S 1 0 1 "" SJK esv1005043 8 106250585 106250912 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581708 S 3 0 1 "" HuRef nsv523932 8 106293050 106303818 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699777 S 2026 0 1 "" nsv891257 8 106293050 106345540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597856 S 6533 0 1 "" IS41284 nsv525494 8 106365896 106373584 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701626 S 2026 0 1 "" nsv521187 8 106392912 106434027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697834 S 2026 0 1 ZFPM2 esv1637363 8 106462283 106462283 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054559 S 2 1 0 ZFPM2 HuRef esv270944 8 106501223 106501566 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506309,essv2498583,essv2509291,essv2504763,essv2499166,essv2493505,essv2497532,essv2510428,essv2493844,essv2502008 M 157 10 0 Samples from several populations that are part of the HapMap project. ZFPM2 NA18523,NA18858,NA18909,NA19099,NA19114,NA19137,NA19147,NA19172,NA19210,NA19257 nsv510163 8 106518814 106524814 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618297 S 4 0 1 ZFPM2 CHM nsv891258 8 106575147 106605429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1590134 S 6533 0 1 ZFPM2 IS38463 nsv525601 8 106579694 106580866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701745 S 2026 1 0 ZFPM2 nsv395924 8 106640883 106641592 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414502 M 24 ZFPM2 esv23851 8 106648880 106649772 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17321 S 451 0 1 ZFPM2 NA19225 nsv831418 8 106717632 106902509 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447417 S 95 1 0 ZFPM2 nsv891259 8 106724085 106765846 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550471 S 6533 1 0 ZFPM2 MS18431 esv271796 8 106733668 106733993 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546401,essv2522706,essv2568074,essv2545373,essv2523164,essv2521582,essv2576839,essv2550823,essv2525288,essv2550376,essv2535292,essv2554001,essv2544549,essv2552021,essv2520547,essv2547336,essv2529351,essv2564548,essv2577890,essv2559766,essv2564188,essv2554922,essv2537397,essv2546960,essv2520921,essv2557306,essv2557122,essv2551755,essv2532232,essv2562563,essv2569549,essv2578591,essv2537053,essv2539027,essv2569700,essv2527401,essv2561684,essv2544736,essv2562843,essv2523864,essv2538300,essv2540300,essv2524754,essv2565010,essv2534760,essv2519835,essv2559878,essv2532490,essv2567874,essv2563732,essv2572520,essv2559027,essv2551111,essv2568885,essv2543536,essv2527888,essv2562409,essv2534147,essv2578483,essv2555309,essv2555536,essv2567122,essv2529980,essv2573869,essv2534365,essv2522321,essv2531415,essv2573598,essv2577109,essv2572156,essv2575681,essv2575122,essv2538698,essv2526652,essv2560591,essv2523959,essv2574921,essv2530334,essv2568594,essv2545209,essv2560308,essv2548101,essv2549942,essv2571198,essv2545811,essv2574526,essv2551495,essv2535997,essv2537765,essv2548799,essv2554594,essv2547940,essv2563402,essv2558081 M 157 94 0 Samples from several populations that are part of the HapMap project. ZFPM2 NA06986,NA07000,NA07037,NA07346,NA07347,NA10847,NA10851,NA11881,NA11931,NA11995,NA12003,NA12004,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12751,NA12761,NA12776,NA12828,NA12872,NA12878,NA12892,NA18498,NA18499,NA18501,NA18504,NA18505,NA18507,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18547,NA18552,NA18555,NA18558,NA18561,NA18566,NA18570,NA18576,NA18577,NA18603,NA18609,NA18638,NA18858,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18943,NA18945,NA18947,NA18949,NA18951,NA18959,NA18960,NA18961,NA18964,NA18970,NA18973,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19172,NA19190,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv274249 8 106733669 106733994 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581815,essv2582852 M 7 2 0 Samples from several populations that are part of the HapMap project. ZFPM2 NA12878,NA12892 esv2643906 8 106739126 106740476 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5297844 S 1 0 1 ZFPM2 NA18507 esv1968574 8 106739531 106740220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905671 S 1 0 1 ZFPM2 NA18507 esv3206 8 106739653 106740065 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25647 S 1 0 1 Single Asian sample YH ZFPM2 YH esv988675 8 106739695 106740014 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580722 S 3 0 1 ZFPM2 HuRef nsv396362 8 106739695 106740014 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414940 M 24 ZFPM2 esv1230300 8 106739710 106740030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344404 S 2 0 1 ZFPM2 HuRef esv9123 8 106739711 106740007 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31564 S 1 0 1 ZFPM2 SJK nsv510164 8 106749739 106755739 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621343 S 4 0 1 ZFPM2 NA15510 esv2571877 8 106772124 106773428 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349193 S 1 0 1 ZFPM2 NA18507 esv2318733 8 106772424 106773161 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517802 S 1 0 1 ZFPM2 NA18507 nsv891260 8 106806635 106877254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550472 S 6533 1 0 ZFPM2 MS18431 nsv6339 8 106857794 106891227 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv761 S 9 1 0 ZFPM2 NA19240 esv26932 8 106865722 106866532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20908 S 451 0 14 ZFPM2 NA18502,NA18505,NA18517,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 esv2357213 8 106866621 106867026 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4949234 S 1 0 1 ZFPM2 NA18507 nsv891261 8 106949825 107001810 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597913 S 6533 0 1 "" IS41068 nsv6340 8 106983757 107018449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv762 S 9 1 0 "" NA19240 esv274538 8 106989866 106989989 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580527 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv267868 8 106989888 106990227 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545369,essv2577460,essv2577973,essv2554812,essv2540122,essv2520916,essv2557414,essv2557258,essv2532260,essv2562580,essv2569392,essv2578658,essv2558937,essv2537133,essv2538980,essv2531098,essv2550862,essv2569193,essv2528148,essv2562515,essv2539328,essv2534001,essv2529517,essv2575419,essv2574894,essv2571373,essv2551342,essv2536096,essv2533147 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA12003,NA12043,NA12761,NA12872,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18510,NA18516,NA18517,NA18519,NA18573,NA18858,NA18861,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19138,NA19238,NA19257 nsv515580 8 106995171 107025603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667926,nssv663962 M 2026 0 2 "" nsv396682 8 107090756 107090808 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415260 M 24 "" nsv526103 8 107117271 107118001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702351 S 2026 0 1 "" nsv891262 8 107145597 107278554 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550473 S 6533 1 0 "" MS18431 nsv437078 8 107155595 107161387 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466959 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12865 nsv438075 8 107157602 107159676 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470028,nssv470029 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12865,NA12875 nsv516086 8 107158155 107159676 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661812,nssv677993,nssv680806,nssv654554,nssv662502,nssv666114,nssv685783,nssv655074,nssv689471,nssv671534,nssv655577,nssv667535,nssv691761,nssv685449,nssv669365,nssv670083,nssv693649 M 2026 0 17 "" nsv818647 8 107158155 107159676 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415769,nssv1415768 M 112 0 2 "" NA12865,NA12875 nsv6341 8 107236371 107270550 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv763 S 9 1 0 "" NA19240 esv274631 8 107277037 107277368 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584302,essv2583596 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270368 8 107277038 107277367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565831,essv2575938,essv2541031,essv2571779,essv2546348,essv2521269,essv2526096,essv2542435,essv2536367,essv2522853,essv2570859,essv2568319,essv2531757,essv2577588,essv2570550,essv2548402,essv2521545,essv2550822,essv2525481,essv2550319,essv2535078,essv2544544,essv2552188,essv2520640,essv2547595,essv2529412,essv2558600,essv2564419,essv2577970,essv2553673,essv2559726,essv2565470,essv2576324,essv2530805,essv2561893,essv2537555,essv2528434,essv2546902,essv2540135,essv2569678,essv2544775,essv2562883,essv2523516,essv2552912,essv2541195,essv2542897,essv2540524,essv2524489,essv2565106,essv2534735,essv2561014,essv2539658,essv2549493,essv2519600,essv2559803,essv2522209,essv2566299,essv2531249,essv2532910,essv2528806,essv2541769,essv2569902,essv2563816,essv2553270,essv2535681,essv2559247,essv2539259,essv2578306,essv2573024,essv2555457,essv2533491,essv2555702,essv2567006,essv2529955,essv2574058,essv2527587,essv2555938,essv2534467,essv2522531,essv2531585,essv2573619,essv2543313,essv2573297,essv2577141,essv2572155,essv2525662,essv2527006,essv2536240,essv2548720,essv2533146,essv2554568,essv2547774,essv2525114,essv2563395,essv2558013 M 157 95 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11993,NA11995,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12156,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12873,NA12874,NA12878,NA12891,NA12892,NA18489,NA18520,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18638,NA18912,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18969,NA18970,NA18973,NA18980,NA19005 esv1569592 8 107277064 107277064 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800922 S 2 1 0 "" HuRef nsv891263 8 107279805 107308956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564769,nssv1587717,nssv1590378,nssv1590653,nssv1596976,nssv1565625 M 6533 0 6 "" IS30295,IS30487,IS38103,IS38503,IS38544,IS40681 nsv397163 8 107290880 107299238 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415741 M 24 "" esv2533164 8 107302953 107305990 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292566 S 1 0 1 "" NA18507 esv1956904 8 107303236 107305323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4552753 S 1 0 1 "" NA18507 esv23500 8 107303244 107304786 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19179 S 451 0 2 "" NA19225,NA19257 esv29304 8 107352041 107352866 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17059 S 451 0 1 OXR1 NA18505 esv259431 8 107367157 107367437 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394090,essv2393908 M 6 0 0 Samples from several populations that are part of the HapMap project. OXR1 NA12878,NA12891 nsv824701 8 107447474 107589239 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441197 S 31 0 1 OXR1 NA18969 nsv397388 8 107502164 107511432 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415966 M 24 OXR1 esv270833 8 107534257 107534537 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512252,essv2502890,essv2501114,essv2499700,essv2503947,essv2495095 M 157 6 0 Samples from several populations that are part of the HapMap project. OXR1 NA07037,NA07051,NA12155,NA12156,NA18516,NA19225 esv2456389 8 107557058 107558040 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377036 S 1 1 0 OXR1 NA18507 esv269507 8 107557413 107557732 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520801,essv2552449,essv2551803,essv2562593,essv2578778,essv2537125,essv2539129,essv2550933,essv2562386,essv2575487,essv2575240,essv2526541,essv2530303,essv2551243 M 157 14 0 Samples from several populations that are part of the HapMap project. OXR1 NA18498,NA18502,NA18504,NA18507,NA18510,NA18517,NA18519,NA18858,NA18909,NA19099,NA19102,NA19114,NA19141,NA19257 dgv467n21 8 107571607 107575479 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522141,nsv523056 M 2026 0 2 OXR1 esv2602152 8 107579581 107581222 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5227415 S 1 0 1 OXR1 NA18507 esv2421125 8 107580078 107580801 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810828 S 1 0 1 OXR1 NA18507 esv1172684 8 107580152 107580487 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860667 S 2 0 1 OXR1 HuRef esv5529 8 107580266 107580599 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27970 S 1 0 1 OXR1 SJK nsv396328 8 107580270 107580594 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414906 M 24 OXR1 esv2646049 8 107580278 107580602 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166622 S 1 0 1 OXR1 NA18507 esv25447 8 107582083 107583033 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16884 S 451 1 0 OXR1 NA18916 esv2283630 8 107601448 107601895 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624408 S 1 0 1 OXR1 NA18507 nsv396739 8 107601601 107601674 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415317 M 24 OXR1 esv988911 8 107601608 107601681 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579142 S 3 0 1 OXR1 HuRef nsv396629 8 107601676 107601749 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415207 M 24 OXR1 esv26205 8 107605003 107616225 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14899 S 451 1 0 OXR1 NA12044 nsv831419 8 107693885 107896977 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447420,nssv1447419 M 95 0 2 ABRA,OXR1 esv33830 8 107707708 107708178 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95993 S 51 0 1 OXR1 22127 nsv6342 8 107713268 107758074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8536 S 9 0 1 OXR1 NA12156 esv268710 8 107790287 107790525 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496157,essv2513455,essv2509269,essv2493860 M 157 4 0 Samples from several populations that are part of the HapMap project. OXR1 NA18511,NA18907,NA18909,NA19210 esv2497761 8 107797161 107798725 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250360 S 1 0 1 OXR1 NA18507 esv2178363 8 107797538 107798252 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863290 S 1 0 1 OXR1 NA18507 esv2838 8 107797661 107798177 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25279 S 1 0 1 Single Asian sample YH OXR1 YH esv5816 8 107797726 107798061 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28257 S 1 0 1 OXR1 SJK esv1610500 8 107797746 107798076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3715577 S 2 0 1 OXR1 HuRef nsv397838 8 107797747 107798076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416416 M 24 OXR1 dgv468n21 8 107886832 107892324 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516791,nsv523126 M 2026 0 8 "" nsv891264 8 107892735 107921682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595988 S 6533 0 1 "" IS40380 nsv465756 8 107908068 107941753 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541503 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00515 nsv517618 8 107926391 107931173 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679209,nssv654152,nssv656343,nssv652151,nssv684916,nssv686212,nssv689929,nssv686965,nssv664715,nssv659729,nssv653805,nssv660000,nssv689408,nssv670519,nssv653755,nssv690747,nssv657627,nssv653049,nssv693247,nssv686234,nssv672093,nssv657371,nssv656579,nssv691405,nssv655320,nssv688944,nssv665463,nssv669874,nssv660393,nssv660282,nssv674918,nssv679685,nssv672338,nssv673695,nssv691132,nssv655159,nssv678876,nssv654418,nssv670130,nssv661456,nssv659475,nssv667927,nssv668029,nssv652567,nssv666226,nssv669393,nssv671314,nssv671559,nssv664662,nssv660744,nssv684659,nssv693119 M 2026 0 52 "" nsv437630 8 107926391 107935025 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467511 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 esv21563 8 107926498 107931408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20762 S 451 0 4 "" NA19108,NA19114,NA19190,NA19257 esv2421960 8 107927695 107931446 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5021825,essv5149208,essv5089211,essv5073977,essv5156004,essv5067731,essv5103941,essv5134480,essv5069579,essv5092326,essv5104978,essv5108622,essv5058091,essv5062826,essv5015792,essv5090666,essv5019633,essv5021378,essv5065008,essv5081526,essv5137358,essv5157554,essv5154537,essv5054721,essv5071486,essv5051768,essv5072059,essv5033100,essv5106343,essv5142509,essv5059206,essv5003057,essv5071281,essv5040434,essv5152010,essv5056334,essv5120615,essv5085977,essv5072510,essv5087292,essv5096991,essv5154626,essv5124616,essv5135355,essv5086339,essv5089100,essv5149791,essv5026104,essv5107468,essv5076695,essv5006208,essv5128783,essv5129345,essv5018515,essv5097064,essv5025071,essv5141156,essv5020621,essv5139045,essv5059623 M 1184 0 60 "" NA18498,NA18859,NA18912,NA18914,NA18923,NA19041,NA19044,NA19096,NA19097,NA19108,NA19109,NA19114,NA19115,NA19116,NA19159,NA19161,NA19175,NA19181,NA19183,NA19190,NA19191,NA19203,NA19210,NA19236,NA19237,NA19257,NA19258,NA19315,NA19319,NA19334,NA19443,NA19457,NA19471,NA19712,NA20334,NA20336,NA20337,NA20349,NA21311,NA21357,NA21363,NA21371,NA21384,NA21387,NA21388,NA21389,NA21408,NA21423,NA21425,NA21447,NA21473,NA21513,NA21520,NA21596,NA21611,NA21613,NA21648,NA21686,NA21689,NA21784 nsv442116 8 107927695 107931446 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515054 8 107927840 107931384 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627986 S 1414 0 1 "" nsv465758 8 107929316 107931173 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541504 S 1557 0 1 "" 1782681378_A nsv818648 8 107929316 107931173 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416760,nssv1416759 M 112 0 2 "" NA19159,NA19161 nsv438076 8 107930039 107931173 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470031,nssv470032 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19203,NA19205 nsv891265 8 107950040 107990915 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585022 S 6533 0 1 "" IS37226 nsv507480 8 108011786 108017786 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620428 S 4 1 0 "" NA15510 nsv516674 8 108013847 108024735 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670868,nssv689159,nssv653342,nssv672833,nssv669044,nssv684685 M 2026 0 6 "" nsv465759 8 108018022 108062827 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541505 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00701 esv259671 8 108114634 108114945 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397658,essv2397842,essv2399844,essv2398960,essv2396843,essv2400087,essv2394695,essv2399986,essv2399298 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18573,NA18603,NA18638,NA18861,NA18870,NA18940,NA19102 esv2025948 8 108180871 108181243 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541241 S 1 0 1 "" NA18507 esv2645797 8 108188717 108190311 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352504 S 1 0 1 "" NA18507 esv2263878 8 108189201 108189938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4779653 S 1 0 1 "" NA18507 esv3054 8 108189366 108189882 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25495 S 1 0 1 Single Asian sample YH "" YH esv1010649 8 108189405 108189726 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577025 S 3 0 1 "" HuRef esv1408512 8 108189410 108189732 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153407 S 2 0 1 "" HuRef esv7725 8 108189410 108189740 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30166 S 1 0 1 "" SJK nsv397473 8 108189411 108189733 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416051 M 24 "" esv1563131 8 108192279 108192279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808417 S 2 1 0 "" HuRef nsv891266 8 108303692 108376234 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550474 S 6533 1 0 ANGPT1 MS18431 esv7982 8 108398106 108398155 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30423 S 1 1 0 ANGPT1 SJK esv1949347 8 108442767 108443240 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520556 S 1 0 1 ANGPT1 NA18507 esv4787 8 108442892 108443129 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27228 S 1 0 1 Single Asian sample YH ANGPT1 YH nsv397529 8 108442915 108443004 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416107 M 24 ANGPT1 esv996692 8 108442926 108443015 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584155 S 3 0 1 ANGPT1 HuRef esv1401355 8 108442986 108443076 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639978 S 2 0 1 ANGPT1 HuRef nsv396372 8 108442987 108443076 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414950 M 24 ANGPT1 nsv512058 8 108448959 108450498 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624610 S 1 0 1 ANGPT1 1 esv2508144 8 108449347 108450963 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240161 S 1 0 1 ANGPT1 NA18507 esv5345 8 108449674 108450441 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27786 S 1 0 1 Single Asian sample YH ANGPT1 YH esv7074 8 108449876 108450261 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29515 S 1 0 1 ANGPT1 SJK nsv524618 8 108525981 108527758 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700579 S 2026 0 1 ANGPT1 nsv824702 8 108573848 108575521 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435982,nssv1428440 M 31 0 2 ANGPT1 AK10,NA18566 nsv819326 8 108573876 108575811 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419362 S 2 0 1 ANGPT1 AK1 nsv396231 8 108573995 108575539 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414809 M 24 ANGPT1 esv26424 8 108574055 108575564 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13179 S 451 0 4 ANGPT1 NA12006,NA15510,NA18502,NA18858 nsv512962 8 108624253 108625570 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625615 S 1 1 0 "" 1 esv1654931 8 108624390 108624390 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4308103 S 2 1 0 "" HuRef esv1293511 8 108624427 108624427 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785757 S 2 1 0 "" HuRef esv1340668 8 108624518 108624518 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841487 S 2 1 0 "" HuRef esv1634339 8 108624531 108624531 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039678 S 2 1 0 "" HuRef esv5686 8 108638274 108638495 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28127 S 1 0 0 "" SJK esv2594575 8 108645288 108657131 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386276 S 1 0 1 "" NA18507 esv27572 8 108646263 108671631 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10986 S 451 1 0 "" NA12489 esv4029 8 108648600 108649091 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26470 S 1 0 1 Single Asian sample YH "" YH esv2528512 8 108659375 108673596 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386261 S 1 0 1 "" NA18507 esv269734 8 108699612 108699930 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2561618,essv2530445,essv2549771 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA19141,NA19225 nsv516660 8 108729679 108773687 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672197,nssv669945 M 2026 0 2 "" nsv6344 8 108737369 108767586 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10637 S 9 1 0 "" NA18956 nsv891267 8 108740249 108785446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550475 S 6533 1 0 "" MS18431 nsv891268 8 108773687 108878442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556434 S 6533 0 1 "" MS22008 dgv469n21 8 108834967 108837523 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525051,nsv525390 M 2026 0 2 "" nsv819646 8 108850433 108851758 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419239 S 2 0 1 "" AK1 esv25450 8 108850513 108851309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12226 S 451 0 3 "" NA06985,NA15510,NA18505 nsv824703 8 108850558 108851156 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426824,nssv1427596,nssv1427965,nssv1432194,nssv1431448,nssv1437567,nssv1435983,nssv1422734,nssv1441198,nssv1434538 M 31 0 10 "" AK18,AK20,AK6,NA18552,NA18566,NA18570,NA18947,NA18949,NA18968,NA18969 esv5539 8 108850575 108851638 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27980 S 1 0 1 "" SJK esv275469 8 108882653 108884167 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585230 S 1250 0 1 "" nsv528821 8 109084974 109089576 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705495 S 2026 0 1 RSPO2 nsv6345 8 109168509 109186351 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6248 S 9 0 1 "" NA12156 nsv499726 8 109172198 109180334 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586094 S 9 0 1 "" esv24983 8 109172224 109180432 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13962 S 451 0 1 "" NA12156 esv268193 8 109196053 109196138 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515444 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 esv992774 8 109202669 109205270 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563908 S 3 1 0 "" HuRef esv271635 8 109205069 109206753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514818,essv2515424,essv2518622,essv2513820 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12234,NA12249,NA12287,NA19143 esv1085060 8 109211221 109211221 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612448 S 2 1 0 "" HuRef nsv396747 8 109217151 109217151 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415325 M 24 "" esv272034 8 109258819 109258927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496315,essv2494649,essv2498604,essv2513247,essv2507403,essv2501755,essv2498158 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18511,NA18519,NA18858,NA18907,NA18912,NA19239,NA19240 esv273093 8 109258819 109258935 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582246,essv2583020,essv2584018,essv2584527,essv2583614 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv273748 8 109271805 109271890 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581054 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv272886 8 109280076 109280401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581680,essv2582692,essv2582923 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv24969 8 109305024 109307311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13028 S 451 0 3 EIF3E NA18858,NA18907,NA19240 esv2302179 8 109390089 109390512 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860298 S 1 0 1 "" NA18507 nsv510165 8 109544712 109550712 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621344,nssv622168 M 4 0 2 TTC35 NA10860,NA15510 esv2638552 8 109594049 109595582 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304030 S 1 0 1 "" NA18507 esv271517 8 109718162 109724303 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493163,essv2509794,essv2494049,essv2495732,essv2501245,essv2504750,essv2510935,essv2497614 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18508,NA18871,NA18916,NA19093,NA19099,NA19116,NA19147 nsv831420 8 109781628 109985482 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447421,nssv1447422 M 95 2 0 TMEM74 esv2555359 8 109799077 109800492 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5368942 S 1 0 1 "" NA18507 esv2172245 8 109799144 109799841 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674501 S 1 0 1 "" NA18507 esv4327 8 109799277 109799799 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26768 S 1 0 1 Single Asian sample YH "" YH esv5928 8 109799302 109799696 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28369 S 1 0 1 "" SJK nsv397356 8 109799338 109799662 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415934 M 24 "" nsv398270 8 109846831 109851355 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416848 M 24 "" nsv891269 8 109857032 110026075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532110 S 6533 1 0 TMEM74 MS10720 esv6496 8 109904114 109904209 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28937 S 1 1 0 "" SJK nsv891270 8 109963274 110079897 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499167 S 6533 1 0 "" SP50182 nsv824704 8 109970069 109970729 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434539 S 31 1 0 "" NA18570 nsv525052 8 109970833 109972734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701097 S 2026 0 1 "" esv2572149 8 110026454 110027854 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259345 S 1 0 1 "" NA18507 nsv891271 8 110123603 110170859 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600941 S 6533 1 0 TRHR IS41948 esv259422 8 110146466 110146729 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393911,essv2393702,essv2394358 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19238,NA19240 esv259722 8 110146494 110146761 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398506,essv2401159,essv2396221,essv2399726,essv2401057,essv2397623,essv2396519,essv2398848,essv2398969,essv2399487,essv2398316,essv2395148,essv2394846,essv2396408,essv2395968,essv2400499 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12006,NA12828,NA12891,NA18502,NA18517,NA18582,NA18603,NA18858,NA19093,NA19108,NA19114,NA19138,NA19238,NA19240 nsv397402 8 110146539 110146539 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415980 M 24 "" esv273060 8 110148238 110148406 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581270 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv268431 8 110148243 110148401 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565645,essv2546212,essv2526072,essv2522849,essv2545610,essv2577434,essv2525500,essv2535140,essv2520694,essv2520048,essv2555049,essv2530693,essv2561870,essv2537457,essv2530507,essv2557069,essv2552589,essv2532147,essv2562675,essv2569415,essv2578717,essv2536970,essv2544657,essv2552911,essv2541101,essv2540533,essv2524344,essv2565162,essv2534843,essv2561119,essv2539623,essv2567291,essv2553421,essv2535564,essv2572327,essv2551027,essv2543449,essv2556306,essv2562186,essv2555627,essv2567105,essv2530013,essv2534368,essv2522364,essv2531533,essv2575357,essv2526677,essv2524067,essv2572893,essv2568454,essv2560254,essv2574071,essv2554464,essv2547823 M 157 54 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11829,NA11881,NA11918,NA11931,NA12003,NA12043,NA12156,NA12249,NA12716,NA12815,NA12872,NA12873,NA12874,NA12878,NA18486,NA18501,NA18502,NA18505,NA18507,NA18508,NA18510,NA18517,NA18526,NA18542,NA18545,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18582,NA18605,NA18608,NA18609,NA18858,NA18870,NA18871,NA18909,NA18945,NA18947,NA18949,NA18959,NA18960,NA18961,NA19102,NA19114,NA19129,NA19143,NA19147,NA19190,NA19240 esv1494996 8 110148276 110148276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000512 S 2 1 0 "" HuRef esv269909 8 110170750 110171076 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565722,essv2575866,essv2540991,essv2546311,essv2526117,essv2522887,essv2570946,essv2545501,essv2523481,essv2577608,essv2570621,essv2521514,essv2535235,essv2553965,essv2544525,essv2520425,essv2577940,essv2553642,essv2555009,essv2537304,essv2528211,essv2530465,essv2552596,essv2532414,essv2569557,essv2527067,essv2523893,essv2541438,essv2540640,essv2524356,essv2564975,essv2534678,essv2560989,essv2549549,essv2519750,essv2559779,essv2522068,essv2565932,essv2567979,essv2567363,essv2569886,essv2563859,essv2553384,essv2572294,essv2566925,essv2556285,essv2562249,essv2573107,essv2555185,essv2533488,essv2529960,essv2527684,essv2522362,essv2572135,essv2525805,essv2538858,essv2560636,essv2549851,essv2551419,essv2537888,essv2554650,essv2547839 M 157 62 0 Samples from several populations that are part of the HapMap project. TRHR NA07000,NA07346,NA07347,NA11829,NA11830,NA11831,NA11881,NA11918,NA11931,NA11993,NA12003,NA12004,NA12043,NA12044,NA12144,NA12249,NA12287,NA12414,NA12716,NA12761,NA12763,NA12872,NA12878,NA12891,NA18486,NA18502,NA18505,NA18508,NA18522,NA18537,NA18545,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18572,NA18577,NA18582,NA18593,NA18603,NA18605,NA18609,NA18853,NA18871,NA18909,NA18942,NA18943,NA18944,NA18949,NA18952,NA18960,NA18973,NA18980,NA19108,NA19116,NA19225,NA19257 esv272700 8 110170754 110171080 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584782,essv2583610 M 7 2 0 Samples from several populations that are part of the HapMap project. TRHR NA19239,NA19240 esv1010309 8 110170767 110170767 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567781 S 3 1 0 TRHR HuRef esv270168 8 110172356 110172673 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510673,essv2507258,essv2506542,essv2497024 M 157 4 0 Samples from several populations that are part of the HapMap project. TRHR NA18501,NA18870,NA19108,NA19190 nsv891272 8 110286442 110337280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501552 S 6533 0 1 NUDCD1 SP51051 dgv7843n71 8 110288911 110545050 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891279,nsv891273 M 6533 0 2 ENY2,NUDCD1,PKHD1L1 IS30539,MS22104 dgv7844n71 8 110293223 110388410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891274,nsv891276,nsv891275 M 6533 0 3 NUDCD1 SP50120,SP50144,SP57367 esv1954796 8 110303737 110304411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525936 S 1 0 1 "" NA18507 esv4972 8 110303745 110304405 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27413 S 1 0 1 Single Asian sample YH "" YH dgv7845n71 8 110321174 110377952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891277,nsv891278 M 6533 0 2 NUDCD1 SP56294,SP57418 nsv515589 8 110337280 110369755 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680099,nssv664016,nssv669986,nssv665886,nssv690468 M 2026 0 5 NUDCD1 nsv6346 8 110378286 110413580 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9467,nssv3681 M 9 2 0 NUDCD1 NA12878,NA18517 nsv891280 8 110415539 110534657 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514444 S 6533 0 1 ENY2,PKHD1L1 SP56004 esv270816 8 110418460 110418545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516331,essv2517856,essv2516174,essv2515248 M 157 4 0 Samples from several populations that are part of the HapMap project. ENY2 NA12814,NA12878,NA12891,NA19238 esv273620 8 110418462 110418770 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584217,essv2583887 M 7 2 0 Samples from several populations that are part of the HapMap project. ENY2 NA19238,NA19240 esv271307 8 110440031 110440333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575860,essv2546321,essv2525833,essv2542511,essv2556601,essv2545642,essv2531836,essv2570474,essv2548630,essv2521818,essv2550775,essv2525357,essv2554183,essv2547500,essv2529372,essv2564464,essv2577685,essv2553585,essv2559416,essv2576189,essv2561878,essv2537622,essv2528523,essv2557495,essv2552705,essv2532245,essv2561623,essv2527741,essv2562414,essv2534049,essv2526509,essv2536283,essv2537845,essv2548662 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA11830,NA11881,NA11918,NA11919,NA11994,NA12003,NA12006,NA12044,NA12045,NA12144,NA12155,NA12156,NA12287,NA12717,NA12749,NA12751,NA12761,NA12763,NA12776,NA12814,NA12874,NA12878,NA12891,NA18499,NA18502,NA18505,NA18523,NA18907,NA18909,NA18916,NA19114 esv273057 8 110440031 110440333 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581662,essv2582484 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv891281 8 110519268 110627798 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552128,nssv1557429 M 6533 0 2 EBAG9,PKHD1L1 MS19226,MS22677 esv2554092 8 110578570 110580357 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393248 S 1 0 1 PKHD1L1 NA18507 esv2027303 8 110579294 110579996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796593 S 1 0 1 PKHD1L1 NA18507 esv3548 8 110579433 110579859 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25989 S 1 0 1 Single Asian sample YH PKHD1L1 YH esv7340 8 110579469 110579810 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29781 S 1 0 1 PKHD1L1 SJK nsv396947 8 110579484 110579805 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415525 M 24 PKHD1L1 nsv528208 8 110653350 110654464 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704769 S 2026 0 1 "" nsv519645 8 110671493 110682176 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657959,nssv663200,nssv657328,nssv673425 M 2026 0 4 SYBU esv275395 8 110685516 110686738 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586006,essv2586084 M 1250 1 1 SYBU esv993723 8 110761862 110761862 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566616 S 3 1 0 SYBU HuRef esv1058770 8 110761864 110761864 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781512 S 2 1 0 SYBU HuRef nsv396337 8 110761864 110761864 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414915 M 24 SYBU nsv398033 8 110761933 110761933 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416611 M 24 SYBU esv2423035 8 110843716 110844726 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379859 S 1 1 0 "" NA18507 nsv831421 8 110943810 111107471 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447423 S 95 1 0 KCNV1 esv24373 8 110991387 110992032 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19125 S 451 0 1 "" NA18508 nsv6347 8 111047319 111092366 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8538 S 9 0 1 KCNV1 NA12156 nsv891282 8 111160265 111223708 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575623 S 6533 0 1 "" IS33786 dgv7846n71 8 111160265 111313191 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891283,nsv891284 M 6533 2 0 "" IS30222,IS31147 nsv525742 8 111182883 111192080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701908 S 2026 0 1 "" dgv470n21 8 111182883 111213795 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526118,nsv522041 M 2026 0 2 "" nsv891285 8 111185324 111251422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550476 S 6533 1 0 "" MS18431 nsv465762 8 111207860 111250561 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541507 S 1557 0 1 "" 1782681262_A dgv7847n71 8 111256237 111408555 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891286,nsv891289,nsv891288 M 6533 3 0 "" MS13257,MS21059,MS22327 nsv891287 8 111270616 111341246 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514910 S 6533 1 0 "" SP56094 nsv527414 8 111288033 111531312 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703852 S 2026 0 1 "" nsv510166 8 111319622 111325622 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621345 S 4 0 1 "" NA15510 esv267434 8 111334394 111334479 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519124 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 nsv891290 8 111349752 111446265 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571174 S 6533 0 1 "" IS32615 nsv396544 8 111449402 111450862 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415122 M 24 "" dgv7848n71 8 111531312 111750836 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891292,nsv891291 M 6533 0 2 "" IS31166,IS35572 esv25196 8 111563457 111569408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14970 S 451 0 1 "" NA12156 nsv831422 8 111648125 111824346 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447424,nssv1447426,nssv1447425 M 95 1 2 "" esv1607409 8 111692551 111692551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4310091 S 2 1 0 "" HuRef esv268915 8 111713411 111713731 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536678,essv2531781,essv2576907,essv2577692,essv2553512,essv2564260,essv2530684,essv2539967,essv2569266,essv2569703,essv2552985,essv2542986,essv2564995,essv2534796,essv2549133,essv2568008,essv2567305,essv2553188,essv2556257,essv2562350,essv2539415,essv2573166,essv2567156,essv2573959,essv2556124,essv2534349,essv2572026,essv2538520,essv2526597,essv2524068,essv2545170,essv2548084,essv2549043,essv2533343 M 157 34 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA11920,NA12006,NA12154,NA12761,NA12763,NA12828,NA12873,NA18489,NA18508,NA18520,NA18542,NA18550,NA18558,NA18561,NA18564,NA18577,NA18582,NA18605,NA18871,NA18909,NA18912,NA18942,NA18947,NA18951,NA18956,NA18959,NA18973,NA19108,NA19114,NA19129,NA19172,NA19210 nsv831423 8 111741977 111938994 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447427 S 95 0 1 "" nsv891293 8 111773739 111891219 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596572 S 6533 1 0 "" IS40570 nsv521944 8 111778978 111782334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694713 S 2026 0 1 "" nsv824705 8 111790519 111797035 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421854 S 31 0 1 "" NA18997 dgv7849n71 8 111823251 112232977 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891295,nsv891294 M 6533 0 2 "" IS32166,IS35229 esv2440817 8 111832278 111833864 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222917 S 1 0 1 "" NA18507 esv28282 8 111960672 111977672 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20619 S 451 2 0 "" NA12156,NA18916 esv25584 8 112009169 112013375 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13879 S 451 0 1 "" NA18909 dgv7850n71 8 112021406 112260608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891297,nsv891296,nsv891301,nsv891299,nsv891300 M 6533 0 6 "" IS31123,IS31729,IS39011,IS39923,MS11467,MS17114 dgv7851n71 8 112056974 112232977 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv891298,nsv891304 M 6533 2 16 "" IS30532,IS30539,IS31044,IS31330,IS31335,IS31581,IS31879,IS34489,IS34555,IS35181,IS35742,IS36244,IS36364,IS36787,IS41224,IS41317,MS13426,MS20872 dgv7852n71 8 112056974 112307566 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891302,nsv891306 M 6533 0 2 "" IS39243,IS41948 nsv824706 8 112057133 112063007 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437568 S 31 0 1 "" NA18949 nsv442117 8 112057232 112059278 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2540876 8 112090577 112092169 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249165 S 1 0 1 "" NA18507 nsv470227 8 112090805 112203614 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546752 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 dgv7853n71 8 112090806 112240998 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891303,nsv891307,nsv891305 M 6533 0 5 "" IS31758,IS33196,IS37103,IS38065,IS39475 nsv891308 8 112141166 112232977 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538415,nssv1600636,nssv1566171,nssv1537301,nssv1532156,nssv1558481,nssv1589252,nssv1579922,nssv1578274,nssv1566344,nssv1571245,nssv1570088 M 6533 5 7 "" IS30597,IS30667,IS31799,IS32653,IS34748,IS35189,IS38330,IS41906,MS10727,MS13154,MS13727,MS23290 dgv7854n71 8 112141166 112307566 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891310,nsv891309 M 6533 0 4 "" IS33566,IS35788,MS12827,MS15704 nsv507481 8 112156646 112162646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621924,nssv620429,nssv617775 M 4 3 0 "" CHM,NA10860,NA15510 nsv891311 8 112157498 112673262 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514132 S 6533 0 1 "" SP55947 nsv891312 8 112181087 112307566 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542624 S 6533 1 0 "" MS15808 esv270277 8 112190442 112190870 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512603,essv2510639,essv2506128,essv2498572,essv2507200,essv2512160,essv2501894,essv2498268 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18523,NA18858,NA18870,NA19238,NA19239,NA19240 esv272552 8 112190456 112190836 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582153,essv2582549,essv2584180 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv2160549 8 112194366 112194800 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678129 S 1 0 1 "" NA18507 nsv6348 8 112220828 112256091 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv764 S 9 1 0 "" NA19240 esv2504288 8 112236516 112238211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301980 S 1 0 1 "" NA18507 esv2357615 8 112237215 112237971 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590004 S 1 0 1 "" NA18507 esv4337 8 112237350 112237843 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26778 S 1 0 1 Single Asian sample YH "" YH nsv397319 8 112237402 112237754 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415897 M 24 "" esv995441 8 112237406 112237758 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568011 S 3 0 1 "" HuRef esv6120 8 112237407 112237768 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28561 S 1 0 1 "" SJK esv1146941 8 112237414 112237767 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4006071 S 2 0 1 "" HuRef nsv824707 8 112359323 112359899 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425116 S 31 1 0 "" AK2 nsv511402 8 112359916 112372497 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626009 S 1 0 1 "" 1 nsv508523 8 112360716 112373216 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618841 S 4 0 1 "" NA10860 nsv512059 8 112363186 112366394 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624612 S 1 0 1 "" 1 nsv435870 8 112363190 112366578 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466485 S 2 0 1 "" NA15510 esv1000982 8 112363222 112366514 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564618 S 3 0 1 "" HuRef esv1752015 8 112363228 112366316 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3658792 S 2 0 1 "" HuRef nsv397505 8 112363229 112366316 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416083 M 24 "" dgv1192n67 8 112363239 112365639 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824708,nsv824710 M 31 0 26 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18582,NA18592,NA18949,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821418 8 112363239 112365639 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420774 S 1 0 1 "" NA10851 esv28227 8 112363260 112365469 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10758 S 451 27 0 "" NA06985,NA07037,NA11894,NA11995,NA12006,NA12239,NA12414,NA12489,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820005 8 112363268 112366846 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419560 S 2 1 0 "" AK1 nsv515055 8 112363352 112364432 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627987 S 1414 0 1 "" esv2421415 8 112363455 112364436 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5004387,essv5069531,essv5047747,essv5121025,essv5017789,essv5011694,essv5133327,essv5042612,essv5074573,essv5148884,essv5036309,essv5146848,essv5077878,essv5131378,essv5154529,essv5160262,essv5139105,essv5062812,essv5111098,essv5046768,essv5049629,essv5014735,essv5064949,essv5033627,essv5128083,essv5047629,essv5090204,essv5026294,essv5113357,essv5091182,essv5160992,essv5067666,essv5141664,essv5013558,essv5120778,essv5102943,essv5054147,essv5148130,essv5080493,essv5094732,essv5024205,essv5083368,essv5124605,essv5095425,essv5015777,essv5018754,essv5154363,essv5030790,essv5045802,essv5071467,essv5033374,essv5023731,essv5056937,essv5119450,essv5100543,essv5095282,essv5151222,essv5095892,essv5041124,essv5156945,essv5018884,essv5092921,essv5076899,essv5026149,essv5036210,essv5080872,essv5157982,essv5072015,essv5068758,essv5030515,essv5021261,essv5080204,essv5130043,essv5027233,essv5033149,essv5022784,essv5154744,essv5095960,essv5042608,essv5016095,essv5056831,essv5092434,essv5159773,essv5071753,essv5063135,essv5120139,essv5033313,essv5155021,essv5127083,essv5017591,essv5057631,essv5031192,essv5117129,essv5155837,essv5004351,essv5075057,essv5013855,essv5035101,essv5097374,essv5061807,essv5114346,essv5028783,essv5036703,essv5106223,essv5040577,essv5026714,essv5091890,essv5142704,essv5130428,essv5159254,essv5043084,essv5002223,essv5042767,essv5078494,essv5079655,essv5008798,essv5146361,essv5061147,essv5108926,essv5136828,essv5160638,essv5117954,essv5021667,essv5154100,essv5069508,essv5086597,essv5125186,essv5059871,essv5066803,essv5112835,essv5046452,essv5108114,essv5027713,essv5036743,essv5091677,essv5141534,essv5073515,essv5085979,essv5082297,essv5088326,essv5091052,essv5125896,essv5047649,essv5104788,essv5107726,essv5051276,essv5109186,essv5008588,essv5128681,essv5100544,essv5105253,essv5070619,essv5013746,essv5101269,essv5118783,essv5009373,essv5037800,essv5096536,essv5119860,essv5153088,essv5009355,essv5037366,essv5121982,essv5031465,essv5069953,essv5003490,essv5133262,essv5021776,essv5062311,essv5062508,essv5159896,essv5063978,essv5003089,essv5135581,essv5043372,essv5123680,essv5054960,essv5116800,essv5118201,essv5024110,essv5008750,essv5031635,essv5092168,essv5111668,essv5084702,essv5061392,essv5121972,essv5135907,essv5086571,essv5135637,essv5144569,essv5117531,essv5027347,essv5156893,essv5124061,essv5073880,essv5045445,essv5117460,essv5053583,essv5109858,essv5086650,essv5083197,essv5088237,essv5104357,essv5158637,essv5043048,essv5005655,essv5010465,essv5154644,essv5008781,essv5124543,essv5115794,essv5051039,essv5098692,essv5002086,essv5075962,essv5161100,essv5142724,essv5008294,essv5026289,essv5142905,essv5040952,essv5036440,essv5104280,essv5081828,essv5155785,essv5104618,essv5058819,essv5061293,essv5033351,essv5068458,essv5135921,essv5012513,essv5065718,essv5033417,essv5088065,essv5142699,essv5137342,essv5055705,essv5016569,essv5144653,essv5054540,essv5152181,essv5082393,essv5154273,essv5122553,essv5013652,essv5141217,essv5149522,essv5042599,essv5042621,essv5043109,essv5129807,essv5095946,essv5003590,essv5057395,essv5071527,essv5142451,essv5004803,essv5134055,essv5084144,essv5100800,essv5032834,essv5068445,essv5036550,essv5114011,essv5087484,essv5100586,essv5129393,essv5150731,essv5090441,essv5012127,essv5096298,essv5120978,essv5012074,essv5117442,essv5057941,essv5052213,essv5074682,essv5085672,essv5009432,essv5047885,essv5099769,essv5138476,essv5059235,essv5133445,essv5077877,essv5137662,essv5104032,essv5146515,essv5105433,essv5021148,essv5093945,essv5071960,essv5083188,essv5010469,essv5115902,essv5139652,essv5057982,essv5145966,essv5139344,essv5028992,essv5111490,essv5115021,essv5103279,essv5051269,essv5149197,essv5133966,essv5151988,essv5077649,essv5030524,essv5057410,essv5144662,essv5035865,essv5086360,essv5069396,essv5094532,essv5084519,essv5115965,essv5064961,essv5035598,essv5152903,essv5111337,essv5087672,essv5086192,essv5021638,essv5102218,essv5102217,essv5100575,essv5154107,essv5144671,essv5078148,essv5086208,essv5018066,essv5147814,essv5055132,essv5049606,essv5122843,essv5124861,essv5137664,essv5019068,essv5120829,essv5019750,essv5031450,essv5073744,essv5025230,essv5134241,essv5149430,essv5087958,essv5082261,essv5033519,essv5115207,essv5133409,essv5150481,essv5120616,essv5157168,essv5029679,essv5058944,essv5069405,essv5072322,essv5081101,essv5160547,essv5137302,essv5062859,essv5036340,essv5136715,essv5109472,essv5015568,essv5051048,essv5087139,essv5016746,essv5126822,essv5114645,essv5003862,essv5159055,essv5119658,essv5018727,essv5091305,essv5036656,essv5134603,essv5122748,essv5145386,essv5139360,essv5065825,essv5095911,essv5030217,essv5083593,essv5082806,essv5009092,essv5128235,essv5142429,essv5093252,essv5028286,essv5122586,essv5055783,essv5113391,essv5080016,essv5074930,essv5084780,essv5041896,essv5036036,essv5078326,essv5122039,essv5014406,essv5090218,essv5044106,essv5121510,essv5061888,essv5026083,essv5091755,essv5087903,essv5043468,essv5144408,essv5100412,essv5139074,essv5121435,essv5017184,essv5116271,essv5138114,essv5012514,essv5038578,essv5053404,essv5099626,essv5145997,essv5027342,essv5161141,essv5150057,essv5045732,essv5060044,essv5132283,essv5089912,essv5075833,essv5125366,essv5045083,essv5084088,essv5119978,essv5114114,essv5155745,essv5102263,essv5013184,essv5143476,essv5057565,essv5003323,essv5084899,essv5023898,essv5137290,essv5108018,essv5156235,essv5012066,essv5136659,essv5093603,essv5099893,essv5101729,essv5135788,essv5017408,essv5026803,essv5153978,essv5104565,essv5150166,essv5037357,essv5108416,essv5121881,essv5020761,essv5056629,essv5118501,essv5033903,essv5060766,essv5050690,essv5059444,essv5144556,essv5063166,essv5036715,essv5015072,essv5126686,essv5058319,essv5149286,essv5021597,essv5095149,essv5025115,essv5152101,essv5141185,essv5033977,essv5031484,essv5074033,essv5107449,essv5018377,essv5106144,essv5100436,essv5052315,essv5009315,essv5142381,essv5017803,essv5130835,essv5086214,essv5132173,essv5036785,essv5098893,essv5103580,essv5003243,essv5083396,essv5088811,essv5095787,essv5051658,essv5075090,essv5154760,essv5011543,essv5159783,essv5076609,essv5122341,essv5085069,essv5110881,essv5134932,essv5143096,essv5054564,essv5036190,essv5048473,essv5045177,essv5040558,essv5059811,essv5121361,essv5048229,essv5048881,essv5120931,essv5118262,essv5027396,essv5008965,essv5022256,essv5042182,essv5145354,essv5118118,essv5159151,essv5042251,essv5086219,essv5092779,essv5119975,essv5114281,essv5047252,essv5109670,essv5136623,essv5092347,essv5057087,essv5059585,essv5151091,essv5045226,essv5135941,essv5045769,essv5159022,essv5054395,essv5092180,essv5120579,essv5133800,essv5062318,essv5120033,essv5056172,essv5045250,essv5015503,essv5058743,essv5082445,essv5066870,essv5159941,essv5093780,essv5069741,essv5095806,essv5080420,essv5065535,essv5131522,essv5141457,essv5010961,essv5077065,essv5039463,essv5062397,essv5069594,essv5117837,essv5087314,essv5071025,essv5118119,essv5138342,essv5093358,essv5049949 M 1184 0 579 "" NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10853,NA10854,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12761,NA12762,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12843,NA12864,NA12865,NA12872,NA12874,NA12875,NA12878,NA12889,NA12891,NA12892,NA17967,NA17976,NA17977,NA17981,NA17986,NA17988,NA17993,NA17997,NA17998,NA18106,NA18107,NA18109,NA18114,NA18117,NA18120,NA18125,NA18127,NA18135,NA18138,NA18140,NA18141,NA18143,NA18144,NA18153,NA18158,NA18162,NA18485,NA18487,NA18500,NA18501,NA18508,NA18518,NA18519,NA18520,NA18526,NA18537,NA18542,NA18543,NA18546,NA18550,NA18552,NA18558,NA18561,NA18564,NA18571,NA18573,NA18576,NA18594,NA18596,NA18605,NA18613,NA18618,NA18623,NA18626,NA18628,NA18630,NA18639,NA18642,NA18643,NA18645,NA18670,NA18694,NA18702,NA18704,NA18745,NA18757,NA18861,NA18862,NA18873,NA18875,NA18924,NA18945,NA18953,NA18955,NA18957,NA18963,NA18966,NA18969,NA18977,NA18995,NA18997,NA18999,NA19009,NA19027,NA19028,NA19041,NA19055,NA19058,NA19060,NA19066,NA19070,NA19074,NA19075,NA19083,NA19087,NA19093,NA19094,NA19114,NA19117,NA19119,NA19120,NA19122,NA19123,NA19127,NA19128,NA19129,NA19137,NA19139,NA19144,NA19150,NA19171,NA19173,NA19174,NA19178,NA19180,NA19186,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19200,NA19203,NA19206,NA19207,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19236,NA19239,NA19240,NA19308,NA19310,NA19311,NA19317,NA19324,NA19328,NA19359,NA19371,NA19380,NA19385,NA19393,NA19394,NA19398,NA19399,NA19403,NA19434,NA19436,NA19439,NA19455,NA19466,NA19467,NA19471,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19661,NA19662,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19704,NA19708,NA19711,NA19713,NA19714,NA19720,NA19721,NA19722,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19756,NA19762,NA19763,NA19770,NA19771,NA19773,NA19775,NA19776,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19790,NA19794,NA19818,NA19834,NA19904,NA19908,NA19909,NA19917,NA19919,NA19985,NA20127,NA20128,NA20281,NA20282,NA20289,NA20290,NA20291,NA20297,NA20301,NA20317,NA20319,NA20322,NA20334,NA20335,NA20336,NA20342,NA20343,NA20347,NA20349,NA20350,NA20359,NA20360,NA20363,NA20364,NA20502,NA20504,NA20505,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20520,NA20521,NA20522,NA20524,NA20525,NA20528,NA20529,NA20530,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20845,NA20849,NA20850,NA20852,NA20869,NA20871,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20884,NA20887,NA20891,NA20895,NA20900,NA20901,NA20902,NA20904,NA20906,NA20909,NA20910,NA21089,NA21090,NA21092,NA21094,NA21098,NA21099,NA21102,NA21103,NA21107,NA21108,NA21109,NA21111,NA21112,NA21117,NA21119,NA21137,NA21141,NA21144,NA21295,NA21301,NA21307,NA21308,NA21309,NA21318,NA21336,NA21353,NA21357,NA21360,NA21362,NA21363,NA21364,NA21371,NA21382,NA21390,NA21399,NA21400,NA21401,NA21403,NA21408,NA21415,NA21418,NA21434,NA21438,NA21440,NA21441,NA21442,NA21451,NA21457,NA21473,NA21475,NA21478,NA21480,NA21489,NA21490,NA21509,NA21512,NA21514,NA21517,NA21519,NA21524,NA21528,NA21582,NA21615,NA21616,NA21619,NA21632,NA21635,NA21678,NA21683,NA21689,NA21738,NA21739,NA21741,NA21768,NA21784 nsv442527 8 112363455 112364436 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv396324 8 112380484 112387762 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414902 M 24 "" nsv465763 8 112394240 112781214 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541508 S 1557 0 1 "" 1780862360_A esv24736 8 112420315 112421133 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10885 S 451 0 1 "" NA18916 nsv891313 8 112428882 112617527 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593520,nssv1596784 M 6533 0 2 "" IS39428,IS40639 nsv433251 8 112470017 112524840 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463132 S 9 0 1 "" NA15510 esv273325 8 112492053 112492256 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578933 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv891314 8 112533041 112719006 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551063 S 6533 1 0 "" MS18748 nsv891315 8 112597583 112685591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541174 S 6533 0 1 "" MS15199 dgv7855n71 8 112597583 112719006 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891316,nsv891317 M 6533 0 2 "" MS18620,MS21294 nsv831424 8 112613664 112775932 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447428 S 95 1 0 "" esv22560 8 112621507 112623467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13839 S 451 0 2 "" NA18523,NA19147 esv1630874 8 112623274 112623482 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4147805 S 2 0 1 "" HuRef nsv891318 8 112625863 112685591 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600236,nssv1552256,nssv1564043,nssv1553278 M 6533 0 4 "" IS30147,IS41862,MS19303,MS19891 nsv891319 8 112625863 112719006 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570197,nssv1594498,nssv1596941,nssv1566540,nssv1584153,nssv1583829,nssv1594253,nssv1567820,nssv1580294,nssv1582118,nssv1581640,nssv1591423 M 6533 9 3 "" IS30771,IS31154,IS31825,IS35261,IS35675,IS35789,IS36667,IS36882,IS38810,IS39743,IS39900,IS40677 dgv471n21 8 112645854 112804764 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521997,nsv521821 M 2026 0 2 "" nsv525808 8 112648947 112685591 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701992 S 2026 0 1 "" nsv465764 8 112648947 112693377 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541509 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00160 nsv824711 8 112673321 112677947 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431450,nssv1441173 M 31 0 2 "" AK18,NA18547 nsv6349 8 112872460 112909812 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8539 S 9 0 1 "" NA12156 nsv6350 8 112934108 112978819 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8540 S 9 0 1 "" NA12156 esv267762 8 112977076 112977459 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496681,essv2495239,essv2513199,essv2495920,essv2493424,essv2511520 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA11992,NA12249,NA12489,NA12763 nsv891320 8 113001084 113123634 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567859 S 6533 0 1 "" IS31166 nsv465765 8 113046555 113129808 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541510 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01347 dgv7856n71 8 113047304 113337092 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891322,nsv891321 M 6533 0 2 CSMD3 IS33566,IS35911 nsv471763 8 113064819 113065106 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646044 M 0.063 95 "" esv269805 8 113076749 113076834 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518177 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12872 nsv6351 8 113136532 113171108 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9468 S 9 0 1 "" NA18517 nsv436579 8 113147243 113158579 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466486 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv27371 8 113147585 113158494 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19184 S 451 0 7 "" NA18505,NA18517,NA18523,NA18858,NA19099,NA19114,NA19240 nsv515056 8 113148528 113154520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627988 S 1414 0 1 "" esv2512743 8 113154234 113155839 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206960 S 1 0 1 "" NA18507 esv1988397 8 113154423 113155124 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4602230 S 1 0 1 "" NA18507 esv5087 8 113154544 113155010 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27528 S 1 0 1 Single Asian sample YH "" YH esv2557205 8 113154603 113154932 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203981 S 1 0 1 "" NA18507 esv1658463 8 113154612 113154942 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3909302 S 2 0 1 "" HuRef nsv396227 8 113154613 113154942 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414805 M 24 "" esv9302 8 113154620 113154904 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31743 S 1 0 1 "" SJK nsv397857 8 113260975 113260975 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416435 M 24 "" nsv397178 8 113261017 113261017 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415756 M 24 "" esv2533876 8 113294108 113295640 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208993 S 1 0 1 "" NA18507 esv2298414 8 113294854 113295573 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548873 S 1 0 1 "" NA18507 esv2943 8 113294988 113295429 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25384 S 1 0 1 Single Asian sample YH "" YH nsv398191 8 113295039 113295381 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416769 M 24 "" esv9013 8 113295051 113295366 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31454 S 1 0 1 "" SJK nsv891323 8 113428553 113463875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515851 S 6533 0 1 CSMD3 SP56294 nsv518270 8 113510014 113519213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695701 S 2026 0 1 CSMD3 nsv831427 8 113563495 113768440 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447430 S 95 0 1 CSMD3,MIR2053 nsv891324 8 113716627 113802141 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550477 S 6533 1 0 CSMD3,MIR2053 MS18431 nsv891325 8 113724772 113751120 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515068 S 6533 0 1 CSMD3,MIR2053 SP56119 nsv524089 8 113830319 113921953 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699961 S 2026 1 0 CSMD3 nsv891326 8 113846845 114160908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592564 S 6533 0 1 CSMD3 IS39243 nsv891327 8 113898156 114178518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550478 S 6533 1 0 CSMD3 MS18431 dgv7857n71 8 113998377 114090660 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891328,nsv891329,nsv891330 M 6533 0 3 CSMD3 MS10699,MS18978,MS22104 nsv891331 8 114020441 114177323 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600369 S 6533 0 1 CSMD3 IS41874 nsv465766 8 114028382 114094881 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541511 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CSMD3 HGDP01337 nsv6352 8 114055456 114088675 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5123 S 9 1 0 CSMD3 NA19129 nsv511403 8 114098597 114125769 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626011 S 1 0 1 CSMD3 1 nsv512060 8 114109574 114115982 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624613 S 1 0 1 CSMD3 1 esv25527 8 114109647 114115689 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13668 S 451 0 1 CSMD3 NA12287 nsv511390 8 114114613 114145898 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625996 S 1 0 1 CSMD3 1 nsv512061 8 114125139 114128308 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624614 S 1 0 1 CSMD3 1 dgv187e180 8 114125668 114128298 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1004496,esv987688 M 3 0 1 CSMD3 HuRef dgv188e180 8 114125724 114127909 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv991665,esv1003423 M 3 0 1 CSMD3 HuRef esv28758 8 114125735 114127903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21237 S 451 0 2 CSMD3 NA12156,NA12489 nsv831428 8 114172159 114389978 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447431 S 95 1 0 CSMD3 nsv507482 8 114387596 114393596 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621925 S 4 1 0 CSMD3 NA10860 nsv831429 8 114507737 114664741 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447432 S 95 0 1 CSMD3 esv995822 8 114534263 114535174 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586883 S 3 0 1 "" HuRef nsv523752 8 114544229 114578348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699569 S 2026 0 1 "" nsv891332 8 114601664 114736288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566817 S 6533 0 1 "" IS30925 esv32891 8 114608976 114612964 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100049 S 51 0 1 "" 22086 nsv891333 8 114621697 114713028 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550834,nssv1569277 M 6533 0 2 "" IS31554,MS18620 nsv818649 8 114629553 114634992 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417897 S 112 1 0 "" NA18852 nsv891334 8 114633967 114740807 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550479 S 6533 1 0 "" MS18431 nsv818650 8 114644039 115546776 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416078 S 112 1 0 "" NA12801 essv20921 8 114644879 115391133 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12801 nsv891335 8 114658183 114794240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567680 S 6533 0 1 "" IS31137 nsv6353 8 114714323 114745612 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3682 S 9 1 0 "" NA12878 nsv891336 8 114736288 114822698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553045 S 6533 1 0 "" MS19703 nsv6355 8 114778480 114823246 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8541 S 9 0 1 "" NA12156 nsv8372 8 114800095 114807999 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17677 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA11830 esv2554407 8 114810198 114811109 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265051 S 1 1 0 "" NA18507 esv267954 8 114810714 114811022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510129,essv2500821,essv2510966,essv2503258,essv2495236,essv2505120,essv2502298,essv2512457,essv2512206,essv2502922,essv2508544,essv2508356,essv2503855,essv2502990,essv2509725,essv2498348,essv2500360,essv2503294,essv2497277,essv2494525,essv2497184,essv2497831,essv2500015,essv2508219,essv2499879,essv2504576,essv2506375,essv2511362,essv2500683,essv2494474,essv2508403,essv2508676,essv2510008,essv2496065,essv2501536,essv2498633,essv2511709,essv2504882,essv2503100,essv2497891,essv2503453,essv2512288,essv2505428,essv2509401,essv2500498,essv2497444,essv2503736,essv2496021,essv2495145,essv2502660,essv2512790,essv2506585,essv2499766,essv2502147,essv2495824,essv2495049 M 157 56 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA11829,NA11830,NA11831,NA11881,NA11992,NA11995,NA12004,NA12043,NA12155,NA12156,NA12717,NA12749,NA12761,NA18507,NA18508,NA18526,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18582,NA18592,NA18593,NA18603,NA18608,NA18858,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18980,NA19108,NA19225,NA19257 nsv891337 8 114846117 114951703 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550480 S 6533 1 0 "" MS18431 esv270008 8 114862067 114862403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557917,essv2571781,essv2521347,essv2525869,essv2542222,essv2543942,essv2570984,essv2568127,essv2577296,essv2570586,essv2548466,essv2558665,essv2553782,essv2559727,essv2555036,essv2537284,essv2528548,essv2540111,essv2557150,essv2552515,essv2532286,essv2569497,essv2536925,essv2539196,essv2569753,essv2561610,essv2562879,essv2534870,essv2539597,essv2530984,essv2567922,essv2563743,essv2566922,essv2542205,essv2550941,essv2569141,essv2543471,essv2556252,essv2562453,essv2539420,essv2573161,essv2529725,essv2526675,essv2560788,essv2524204,essv2574804,essv2560198,essv2548077,essv2571274,essv2551466,essv2554775 M 157 51 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11840,NA11894,NA11918,NA11919,NA11992,NA11993,NA11995,NA12043,NA12044,NA12045,NA12750,NA12763,NA12776,NA12872,NA12878,NA12891,NA18489,NA18501,NA18502,NA18505,NA18508,NA18517,NA18519,NA18520,NA18523,NA18532,NA18561,NA18563,NA18573,NA18577,NA18603,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18909,NA18912,NA18942,NA19093,NA19114,NA19116,NA19129,NA19138,NA19190,NA19210,NA19238,NA19257 esv273914 8 114862067 114862403 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582140,essv2582596 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv891338 8 114876772 114928019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540887 S 6533 1 0 "" MS15078 nsv465769 8 114884852 114906174 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541512 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01368 nsv518188 8 114885218 114887911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695610 S 2026 0 1 "" nsv891339 8 114891495 114911995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505053 S 6533 0 1 "" SP53041 nsv891340 8 114897605 115514581 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541175 S 6533 0 1 "" MS15199 dgv7858n71 8 114911995 114973907 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891342,nsv891341,nsv891343 M 6533 0 3 "" IS31137,IS35788,IS37226 nsv818651 8 114918139 114969743 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418479 S 112 0 1 "" NA19193 esv993676 8 114931796 114931928 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567428 S 3 0 1 "" HuRef nsv470228 8 114938741 114969743 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546753,nssv546755 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984,HGDP01199 essv25038 8 114954608 115280348 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12801 nsv510983 8 114975055 115005454 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621609 S 4 0 0 "" NA15510 dgv1193n67 8 114981952 114982875 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824712,nsv824714 M 31 0 3 "" AK18,AK6,NA18537 nsv824713 8 114981988 114982610 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427622 S 31 0 1 "" AK8 esv33010 8 114982031 114982439 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98805 S 51 0 1 "" 21606 nsv507483 8 114982619 114988619 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623053,nssv621926,nssv617776 M 4 3 0 "" CHM,NA10860,NA18994 esv8364 8 114985676 114986235 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30805 S 1 0 0 "" SJK nsv507484 8 114998023 115004023 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621927,nssv617777 M 4 2 0 "" CHM,NA10860 esv2634685 8 115003141 115004544 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291177 S 1 0 1 "" NA18507 dgv43e194 8 115003379 115004052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2048595,esv2413833 M 1 0 1 "" NA18507 esv3056 8 115003496 115003926 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25497 S 1 0 1 Single Asian sample YH "" YH esv5954 8 115003548 115003836 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28395 S 1 0 1 "" SJK esv989875 8 115003568 115003857 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569281 S 3 0 1 "" HuRef esv2583471 8 115003569 115003858 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5344663 S 1 0 1 "" NA18507 dgv251n6 8 115003569 115003859 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv398457,nsv398016 M 24 "" nsv8373 8 115009261 115012648 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19857 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv891344 8 115025767 115072918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585024 S 6533 0 1 "" IS37226 nsv891345 8 115025767 115187994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579524 S 6533 0 1 "" IS35127 nsv891346 8 115052464 115096852 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556323,nssv1554541,nssv1545436 M 6533 0 3 "" MS16793,MS20854,MS21924 nsv891347 8 115110311 115187994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541438 S 6533 0 1 "" MS15312 nsv8374 8 115132392 115136180 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17673 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07048 dgv7859n71 8 115139795 115210947 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891348,nsv891349 M 6533 0 2 "" IS33023,IS39666 nsv8375 8 115144075 115147694 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16385 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv8376 8 115147694 115150484 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16270,nssv16445,nssv18488,nssv18058,nssv17703,nssv18931,nssv21540,nssv19887 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA07048,NA10847,NA12155,NA12802,NA19132,NA19144,NA19221,NA19240 nsv824715 8 115148472 115149848 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423559 S 31 0 1 "" NA18999 esv25778 8 115148622 115149858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19624 S 451 0 2 "" NA11995,NA12287 nsv891350 8 115157419 115240804 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574559 S 6533 0 1 "" IS33600 essv10146 8 115165252 115326300 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19130 esv27837 8 115220829 115244065 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21207 S 451 0 1 "" NA12828 nsv442118 8 115222742 115279466 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv523338 8 115223980 115278440 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699084 S 2026 0 1 "" nsv891351 8 115231957 115316731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552093 S 6533 0 1 "" MS19177 dgv7860n71 8 115231957 115605269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891353,nsv891352 M 6533 0 2 "" IS31145,IS33839 nsv438077 8 115238845 115243377 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470033,nssv470034 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19130,NA19131 nsv521584 8 115253840 115269899 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698200 S 2026 0 1 "" dgv895n27 8 115297043 115350017 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465777,nsv465776 M 1557 0 2 "" HGDP00144,HGDP00189 nsv465778 8 115301193 115411853 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541516 S 1557 0 1 "" NINDS_142 nsv891354 8 115320092 115372435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504269 S 6533 0 1 "" SP52390 dgv7861n71 8 115354984 115492758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891358,nsv891360,nsv891362,nsv891361,nsv891356,nsv891357,nsv891355 M 6533 0 9 "" IS30742,IS31323,IS33600,IS35225,IS35431,IS35765,IS41887,MS14324,MS24732 dgv7862n71 8 115361108 115605269 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891370,nsv891366,nsv891368,nsv891365,nsv891359 M 6533 0 8 "" IS31094,IS31205,IS32150,IS34856,IS34896,IS35771,IS41043,MS16697 dgv7863n71 8 115363037 115536003 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891364,nsv891363 M 6533 0 2 "" IS32166,IS37999 nsv891367 8 115363037 115704806 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598545 S 6533 1 0 "" IS40886 dgv896n27 8 115374884 115390367 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465780,nsv465779 M 1557 0 2 "" HGDP00577,HGDP00583 nsv824716 8 115376819 115378604 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431452 S 31 1 0 "" AK18 nsv819604 8 115376849 115378072 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419204 S 2 1 0 "" AK1 nsv521163 8 115390010 115464627 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683369,nssv685276,nssv693844 M 2026 0 3 "" nsv891369 8 115404395 115525143 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552413 S 6533 0 1 "" MS19414 dgv7864n71 8 115421033 115607977 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891371,nsv891376,nsv891375,nsv891374 M 6533 0 7 "" IS31330,IS31369,IS31617,IS32289,IS33616,IS35229,MS18847 dgv7865n71 8 115421033 116364985 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891372,nsv891377,nsv891373 M 6533 3 0 "" IS33774,IS36241,IS37744 esv6451 8 115464165 115464255 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28892 S 1 1 0 "" SJK esv274684 8 115491409 115491494 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581150 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv891378 8 115492758 115575346 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541439 S 6533 0 1 "" MS15312 dgv7866n71 8 115494356 115631498 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891380,nsv891379,nsv891381 M 6533 0 3 "" IS34599,MS20616,MS21717 dgv7867n71 8 115516679 115607977 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891383,nsv891382 M 6533 0 2 "" MS17697,MS21532 nsv824717 8 115520044 115530142 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434108 S 31 1 0 "" NA18592 nsv470229 8 115525142 115579946 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546756 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01216 nsv470230 8 115536003 115579946 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546757 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356 nsv465784 8 115536411 115575346 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541520 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 dgv7868n71 8 115546776 115593151 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891384,nsv891386 M 6533 0 2 "" SP52708,SP57401 nsv891385 8 115546776 115631498 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551128 S 6533 0 1 "" MS18788 nsv516943 8 115631498 115672835 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687276,nssv655104 M 2026 2 0 "" nsv438078 8 115653282 115724060 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470040,nssv470039,nssv470036,nssv470035,nssv470038,nssv470037 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18612,NA18636,NA18947,NA18948,NA18956 nsv891387 8 115660642 115719585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567860,nssv1568791 M 6533 0 2 "" IS31166,IS31338 nsv508524 8 115669704 115727017 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622602,nssv620014 M 4 0 2 "" NA15510,NA18994 dgv7869n71 8 115672835 115764342 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891389,nsv891388 M 6533 0 4 "" MS11364,MS13399,MS23531,MS24987 esv267562 8 115673622 115673939 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510261,essv2511060,essv2508338,essv2502498,essv2503791,essv2508903,essv2500309,essv2494908,essv2503337,essv2512955,essv2497755,essv2501571,essv2501061,essv2509202,essv2502079,essv2503641 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA11831,NA12749,NA12750,NA12761,NA12878,NA12891,NA18520,NA18542,NA18547,NA18555,NA18608,NA18856,NA18909,NA19257 esv273015 8 115673623 115673795 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580129,essv2580468 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv6356 8 115687195 115737714 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9757,nssv10638 M 9 0 2 "" NA18507,NA18956 nsv398069 8 115688098 115688156 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416647 M 24 "" nsv517280 8 115695278 115711712 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681363,nssv652496,nssv683572,nssv665350,nssv661391,nssv690841,nssv654681,nssv671921,nssv671276,nssv683266,nssv670599,nssv662869,nssv688875,nssv691038,nssv659602,nssv667076,nssv662568,nssv659908,nssv691133,nssv683904,nssv656179,nssv661432,nssv667810,nssv660576,nssv678705,nssv686281,nssv657464,nssv656623,nssv677994,nssv686151,nssv687900,nssv686303,nssv687679,nssv685260,nssv677180,nssv677112,nssv690423,nssv654836,nssv693506,nssv660874,nssv685079,nssv676565,nssv676834,nssv686411,nssv662612,nssv693732,nssv669859,nssv673248,nssv691442,nssv687374,nssv679964,nssv660258,nssv665253,nssv676166,nssv677398,nssv674991,nssv674396,nssv687062,nssv663977,nssv652948,nssv669894,nssv662724,nssv655345,nssv660640,nssv680566,nssv676527,nssv651854,nssv667697,nssv692723,nssv659137,nssv662670,nssv677037,nssv677544,nssv698757,nssv670990,nssv680684,nssv675065,nssv678917,nssv689472,nssv655981,nssv676347,nssv660615,nssv669351,nssv692323,nssv665464,nssv657060,nssv698870,nssv682856,nssv687487,nssv657175,nssv667608,nssv669205,nssv656133,nssv670945,nssv680005,nssv672094,nssv689638,nssv654334,nssv681921,nssv693220,nssv659389,nssv675483,nssv693558,nssv670547,nssv675425,nssv691277,nssv684414,nssv655294,nssv675980,nssv691784,nssv671974,nssv654195,nssv693968,nssv655925,nssv664680,nssv689598,nssv681269,nssv681659,nssv671315 M 2026 1 118 "" nsv891390 8 115695278 115801594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550481 S 6533 1 0 "" MS18431 nsv891391 8 115695702 115719585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503372 S 6533 0 1 "" SP52051 dgv33n14 8 115701219 115711712 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433496,nsv433252 M 9 0 2 "" NA18507,NA18956 dgv7870n71 8 115701219 115743840 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891392,nsv891393 M 6533 0 2 "" SP52095,SP57983 nsv8377 8 115701237 115718749 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16736,nssv15611,nssv20333,nssv17335,nssv17707,nssv17763,nssv17385,nssv16794 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA07048,NA11830,NA12872,NA18537,NA18972,NA18975,NA18980,NA19007 esv2592263 8 115701815 115712360 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299326 S 1 0 1 "" NA18507 esv2639301 8 115702163 115715541 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248266 S 1 0 1 "" NA18507 dgv1194n67 8 115702976 115712700 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824718,nsv824719 M 31 0 10 "" AK14,AK18,AK4,AK8,NA18537,NA18947,NA18968,NA18972,NA18973,NA18997 esv28895 8 115703020 115712660 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16270 S 451 0 7 "" NA07045,NA11894,NA15510,NA18508,NA18858,NA18907,NA19190 esv33905 8 115703066 115712529 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98701,essv100804,essv98263,essv96983,essv95583,essv93652,essv97084,essv99969,essv98429 M 51 9 0 "" 21606,21656,21772,21817,21841,21972,22075,22086,22352 nsv499200 8 115703076 115715075 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586095 S 9 0 1 "" esv2422133 8 115703454 115711712 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152827,essv5125900,essv5139580,essv5136137,essv5053374,essv5141525,essv5019219,essv5030660,essv5125113,essv5011263,essv5097198,essv5082980,essv5112395,essv5110052,essv5003813,essv5131889,essv5002020,essv5114482,essv5160217,essv5015582,essv5148550,essv5146850,essv5022000,essv5029663,essv5129279,essv5146534,essv5104743,essv5048405,essv5107325,essv5137744,essv5148092,essv5117697,essv5128423,essv5069247,essv5015270,essv5119845,essv5014971,essv5037401,essv5039394,essv5153869,essv5131794,essv5060684,essv5152446,essv5064367,essv5141394,essv5020467,essv5021482,essv5037991,essv5066631,essv5147744,essv5017232,essv5070217,essv5147308,essv5024209,essv5097533,essv5107127,essv5140698,essv5021012,essv5067787,essv5074314,essv5051493,essv5024096,essv5093530,essv5096009,essv5132281,essv5088987,essv5114965,essv5051356,essv5068356,essv5112221,essv5014633,essv5090688,essv5042658,essv5044205,essv5064896,essv5119196,essv5004861,essv5129029,essv5069647,essv5040268,essv5060771,essv5147117,essv5081135,essv5022962,essv5068462,essv5156408,essv5101686,essv5134212,essv5115516,essv5103593,essv5116631,essv5002496,essv5087367,essv5003090,essv5153767,essv5043284,essv5095274,essv5014606,essv5070483,essv5067972,essv5011751,essv5088544,essv5153991,essv5118341,essv5126698,essv5089494,essv5087569,essv5002450,essv5105437,essv5138597,essv5046164,essv5027120,essv5025359,essv5062860,essv5091561,essv5011940,essv5126983,essv5022710,essv5023139,essv5112479,essv5147414,essv5115948,essv5109287,essv5134275,essv5119520,essv5126236,essv5038413,essv5149635,essv5004254,essv5066029,essv5100887,essv5133833,essv5100082,essv5075593,essv5064781,essv5060680,essv5099011,essv5079563,essv5155983,essv5045515,essv5028362,essv5020388,essv5006596,essv5129168,essv5085163,essv5145009,essv5003569,essv5106191,essv5147077,essv5064824,essv5127203,essv5075376,essv5013529,essv5089098,essv5110927,essv5058050,essv5030773,essv5007096,essv5083586,essv5126588,essv5040009,essv5125393,essv5078723,essv5012698,essv5033005,essv5080918,essv5120116,essv5123899,essv5051418,essv5051997,essv5051518,essv5094213,essv5148826,essv5039953,essv5027947,essv5007874,essv5128452,essv5011941,essv5034669,essv5047185,essv5024989,essv5078790,essv5121112,essv5060487,essv5126789,essv5103185,essv5019280,essv5027882,essv5051947,essv5012288,essv5021657,essv5131131,essv5073211,essv5045302,essv5109899,essv5132846,essv5104334,essv5098093,essv5032011,essv5026962,essv5121265,essv5102076,essv5156829,essv5117965,essv5050465,essv5005047,essv5084507,essv5010396,essv5013924,essv5107243,essv5028477,essv5009333,essv5103057,essv5131587,essv5040341,essv5148922,essv5155292,essv5066106,essv5006131,essv5055919,essv5090851,essv5078066,essv5077253,essv5006096,essv5060592,essv5024173,essv5105151,essv5042108,essv5052936,essv5112948,essv5021050,essv5078587,essv5011474,essv5130418,essv5120449,essv5140256,essv5132010,essv5110023,essv5040616,essv5150807,essv5160890,essv5025214,essv5055094,essv5097105,essv5134387,essv5071462,essv5024449,essv5067809,essv5010685,essv5101762,essv5074479,essv5159935,essv5059719,essv5004362,essv5098150,essv5098704,essv5084835,essv5101289,essv5070793,essv5139274,essv5046538,essv5159494,essv5040139,essv5104350,essv5074538,essv5077382,essv5100015,essv5128275,essv5083839,essv5122882,essv5088899,essv5153540,essv5057121,essv5117498,essv5146270,essv5159587,essv5150234,essv5119562,essv5060543,essv5047413,essv5133640,essv5088696,essv5033554,essv5059142,essv5028457,essv5069500,essv5161230,essv5030288,essv5012077,essv5140077,essv5073627,essv5057848,essv5083988,essv5060039,essv5025910,essv5091034,essv5060553,essv5157394,essv5068593,essv5020090,essv5032740,essv5014738,essv5099428,essv5142848,essv5051925,essv5102295,essv5039721,essv5067638,essv5065085,essv5073584,essv5063259,essv5045396,essv5119118,essv5029032,essv5115856,essv5125405,essv5038584,essv5086801,essv5076320,essv5112700,essv5033726,essv5032297,essv5096978,essv5114051,essv5102282,essv5038619,essv5001931,essv5157347,essv5111907,essv5155425,essv5033339,essv5151585,essv5151300,essv5121371,essv5032875,essv5009031,essv5082975,essv5144451,essv5057433,essv5110765,essv5152921,essv5156592,essv5038794,essv5116305,essv5158389 M 1184 0 345 "" NA06989,NA06994,NA06997,NA07014,NA07022,NA07031,NA07045,NA07055,NA07357,NA10835,NA10836,NA10840,NA10856,NA11829,NA11830,NA11894,NA11917,NA12045,NA12248,NA12275,NA12286,NA12336,NA12342,NA12376,NA12400,NA12546,NA12716,NA12748,NA12763,NA12778,NA12801,NA12813,NA12843,NA12864,NA12872,NA12873,NA17965,NA17967,NA17969,NA17972,NA17977,NA17982,NA17988,NA18102,NA18108,NA18134,NA18135,NA18146,NA18147,NA18153,NA18155,NA18160,NA18486,NA18498,NA18506,NA18507,NA18508,NA18511,NA18536,NA18537,NA18546,NA18559,NA18562,NA18573,NA18577,NA18597,NA18599,NA18609,NA18610,NA18611,NA18612,NA18613,NA18621,NA18623,NA18624,NA18626,NA18636,NA18642,NA18645,NA18682,NA18689,NA18694,NA18696,NA18740,NA18757,NA18855,NA18858,NA18867,NA18868,NA18869,NA18917,NA18939,NA18943,NA18945,NA18947,NA18948,NA18952,NA18954,NA18956,NA18960,NA18962,NA18963,NA18965,NA18966,NA18968,NA18970,NA18972,NA18973,NA18974,NA18975,NA18978,NA18979,NA18980,NA18994,NA18995,NA18997,NA18998,NA19000,NA19001,NA19002,NA19005,NA19007,NA19028,NA19054,NA19055,NA19056,NA19063,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19079,NA19080,NA19081,NA19083,NA19085,NA19098,NA19113,NA19121,NA19127,NA19130,NA19137,NA19139,NA19140,NA19146,NA19152,NA19154,NA19171,NA19184,NA19186,NA19190,NA19192,NA19194,NA19198,NA19199,NA19201,NA19207,NA19222,NA19235,NA19236,NA19237,NA19248,NA19256,NA19316,NA19318,NA19321,NA19324,NA19328,NA19346,NA19350,NA19377,NA19381,NA19382,NA19383,NA19385,NA19394,NA19397,NA19428,NA19439,NA19443,NA19444,NA19445,NA19446,NA19451,NA19462,NA19467,NA19469,NA19470,NA19471,NA19652,NA19653,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19682,NA19683,NA19684,NA19685,NA19686,NA19701,NA19702,NA19708,NA19712,NA19726,NA19746,NA19748,NA19749,NA19751,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19776,NA19779,NA19783,NA19818,NA19916,NA19917,NA19918,NA19982,NA20294,NA20302,NA20342,NA20343,NA20346,NA20347,NA20359,NA20360,NA20508,NA20509,NA20519,NA20527,NA20528,NA20535,NA20538,NA20539,NA20543,NA20581,NA20756,NA20765,NA20766,NA20768,NA20775,NA20778,NA20790,NA20792,NA20797,NA20799,NA20800,NA20802,NA20811,NA20812,NA20815,NA20819,NA20826,NA20845,NA20846,NA20852,NA20858,NA20866,NA20881,NA20884,NA20890,NA20901,NA20902,NA20904,NA21088,NA21092,NA21097,NA21098,NA21099,NA21107,NA21113,NA21117,NA21123,NA21137,NA21142,NA21302,NA21303,NA21307,NA21309,NA21314,NA21344,NA21352,NA21357,NA21360,NA21366,NA21367,NA21368,NA21371,NA21381,NA21383,NA21391,NA21399,NA21400,NA21401,NA21414,NA21420,NA21421,NA21424,NA21425,NA21434,NA21435,NA21438,NA21451,NA21454,NA21455,NA21457,NA21476,NA21477,NA21479,NA21480,NA21485,NA21487,NA21509,NA21512,NA21519,NA21523,NA21524,NA21526,NA21527,NA21576,NA21582,NA21583,NA21587,NA21596,NA21616,NA21632,NA21650,NA21683,NA21719,NA21733,NA21738,NA21739,NA21768 nsv442528 8 115703663 115710907 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515057 8 115704792 115712560 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627989 S 1414 0 1 "" nsv818652 8 115711058 115711712 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416079,nssv1416949,nssv1417348,nssv1417602,nssv1416369,nssv1416080,nssv1416948,nssv1418482,nssv1415669,nssv1417044,nssv1417490,nssv1418009,nssv1418480,nssv1416370,nssv1417642,nssv1417045,nssv1417333,nssv1415670 M 112 1 17 "" NA06994,NA07000,NA07357,NA10835,NA12248,NA12801,NA12813,NA18609,NA18612,NA18855,NA18856,NA18965,NA18978,NA18992,NA19137,NA19139,NA19192,NA19194 nsv527138 8 115711058 115719585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703526 S 2026 0 1 "" nsv891394 8 115711712 115958925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538091 S 6533 0 1 "" MS13480 nsv891395 8 115711712 116292018 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597790 S 6533 1 0 "" IS40886 nsv831430 8 115760303 115915249 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447434,nssv1447433 M 95 1 1 "" esv2421554 8 115762894 115797539 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5077475,essv5002221,essv5151704,essv5069472,essv5083002,essv5101821,essv5151555,essv5130579,essv5073630,essv5126538,essv5046830,essv5081399 M 1184 0 12 "" NA21302,NA21303,NA21314,NA21414,NA21420,NA21421,NA21485,NA21487,NA21526,NA21527,NA21587,NA21650 nsv891396 8 115767669 115851071 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567094,nssv1568956 M 6533 0 2 "" IS31044,IS31373 esv274877 8 115777432 115798992 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585662 S 1250 0 1 "" nsv398306 8 115829179 115834849 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416884 M 24 "" esv273035 8 115842278 115843113 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580833,essv2579329,essv2579571 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv891397 8 115879561 116198520 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521814 S 6533 1 0 "" SP52593 esv2752194 8 115905670 116015087 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984512,essv6984513 M 771 0 1 "" BEC_713 nsv891398 8 115923571 115958925 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550482 S 6533 1 0 "" MS18431 nsv527336 8 115932676 115935292 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703762 S 2026 0 1 "" esv29557 8 115934593 115936874 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13350 S 451 0 1 "" NA19225 esv2512945 8 115950449 115951574 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241701 S 1 1 0 "" NA18507 esv269745 8 115950917 115951274 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510191,essv2503209,essv2506820,essv2511406,essv2511242,essv2504435,essv2505086,essv2507947,essv2512451,essv2499486,essv2512246,essv2513182,essv2495844,essv2502585,essv2507771,essv2493445,essv2493383,essv2502786,essv2496743,essv2511757,essv2510707,essv2494359,essv2504059,essv2503016,essv2496378,essv2496250,essv2493593,essv2494752,essv2508939,essv2506074,essv2508768,essv2503307,essv2497272,essv2512985,essv2497781,essv2499985,essv2507808,essv2511249,essv2507587,essv2508168,essv2508413,essv2496112,essv2501635,essv2505253,essv2500884,essv2505937,essv2493999,essv2509340,essv2497850,essv2503535,essv2496029,essv2505611,essv2506583,essv2510922,essv2509558,essv2498729,essv2497478,essv2510511,essv2499652,essv2512097,essv2498079,essv2501996,essv2511496,essv2504379,essv2513054 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA10847,NA10851,NA11881,NA11918,NA11920,NA11931,NA11993,NA11995,NA12003,NA12043,NA12044,NA12155,NA12249,NA12489,NA12750,NA12751,NA12763,NA12776,NA12892,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18510,NA18511,NA18517,NA18519,NA18522,NA18523,NA18532,NA18542,NA18545,NA18547,NA18555,NA18558,NA18564,NA18570,NA18576,NA18579,NA18582,NA18603,NA18608,NA18853,NA18856,NA18861,NA18871,NA18909,NA18945,NA18947,NA18961,NA19005,NA19108,NA19116,NA19129,NA19138,NA19147,NA19172,NA19225,NA19238,NA19240,NA19257 esv273018 8 115950919 115951267 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580019,essv2580779,essv2579454 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19240 esv2448693 8 115956157 115957814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348292 S 1 0 1 "" NA18507 esv2358895 8 115956852 115957525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668076 S 1 0 1 "" NA18507 esv2515560 8 116065823 116067730 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200465 S 1 0 1 "" NA18507 esv2001443 8 116066789 116067657 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932212 S 1 0 1 "" NA18507 esv1973060 8 116078264 116078668 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4784682 S 1 0 1 "" NA18507 nsv891399 8 116106974 116364985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583028 S 6533 1 0 "" IS36241 nsv507485 8 116114065 116120065 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623054 S 4 1 0 "" NA18994 esv2001794 8 116173482 116173885 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4970607 S 1 0 1 "" NA18507 esv1252272 8 116173699 116173753 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743665 S 2 0 1 "" HuRef nsv891400 8 116208389 116442505 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586347 S 6533 1 0 "" IS37744 nsv518999 8 116257839 116258151 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696469 S 2026 0 1 "" nsv831431 8 116278520 116471480 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447435 S 95 0 1 "" nsv428205 8 116410748 116592085 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451583,nssv451582,nssv451584 M 62 3 0 TRPS1 HGDP00463,HGDP00986,HGDP01094 esv268894 8 116424692 116425054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510668,essv2494197,essv2509686,essv2513515,essv2509168,essv2499004,essv2493841 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18508,NA18907,NA18909,NA19114,NA19210 esv2428989 8 116479955 116480854 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196469 S 1 1 0 "" NA18507 nsv891401 8 116521516 116699486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546174 S 6533 0 1 TRPS1 MS17114 esv6878 8 116550252 116551024 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29319 S 1 0 0 TRPS1 SJK esv2629108 8 116556913 116558535 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244868 S 1 0 1 TRPS1 NA18507 esv2404318 8 116557197 116557928 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945783 S 1 0 1 TRPS1 NA18507 esv3802 8 116557369 116557815 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26243 S 1 0 1 Single Asian sample YH TRPS1 YH esv995406 8 116557404 116557732 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570818 S 3 0 1 TRPS1 HuRef esv9057 8 116557417 116557719 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31498 S 1 0 1 TRPS1 SJK nsv891402 8 116591201 116713296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550483 S 6533 1 0 TRPS1 MS18431 nsv510167 8 116638849 116644849 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618298 S 4 0 1 TRPS1 CHM esv2510901 8 116663761 116665221 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381495 S 1 0 1 TRPS1 NA18507 nsv6357 8 116809176 116853960 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8542 S 9 0 1 "" NA12156 esv25031 8 116832322 116832828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13347 S 451 0 1 "" NA18502 nsv507486 8 116832519 116838519 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621928 S 4 1 0 "" NA10860 esv2486903 8 116848980 116850657 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286171 S 1 0 1 "" NA18507 esv2233817 8 116849504 116850028 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4635304 S 1 0 1 "" NA18507 esv1069500 8 116849791 116849791 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681320 S 2 1 0 "" HuRef esv1003961 8 116928898 116938598 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564395 S 3 0 1 "" HuRef dgv2249e1 8 116948684 117250765 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7446,essv6975 M 271 0 0 "" NA18582 nsv527309 8 116957644 117632713 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703730 S 2026 1 0 "" nsv891403 8 116977400 117178354 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513162 S 6533 1 0 "" SP55692 nsv824721 8 116982233 117176208 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424349 S 31 1 0 "" NA18582 esv35019 8 116984000 117174737 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986914,essv6979628,essv6979629 M 771 1 0 "" NA18582 nsv891404 8 117051313 117115633 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534362 S 6533 0 1 "" MS11554 nsv891405 8 117058125 117156791 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578085 S 6533 0 1 "" IS34658 nsv831432 8 117067679 117160888 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447436 S 95 1 0 "" nsv891406 8 117083321 117224170 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550835 S 6533 0 1 "" MS18620 esv2535323 8 117115898 117116969 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289163 S 1 1 0 "" NA18507 esv273185 8 117116144 117116487 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580248,essv2580281,essv2580699,essv2579101,essv2579552 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv1113625 8 117116197 117116197 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964237 S 2 1 0 "" HuRef nsv831433 8 117118953 117325269 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447438,nssv1447437 M 95 0 2 "" esv2498631 8 117256115 117256571 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355016 S 1 0 1 "" NA18507 esv274392 8 117295532 117295617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581074 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv6358 8 117436678 117471854 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv765 S 9 1 0 "" NA19240 esv2418323 8 117468848 117469303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604566 S 1 0 1 "" NA18507 esv259885 8 117478501 117478963 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398795,essv2398589,essv2399401 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA12287 esv1992463 8 117517766 117518202 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999238 S 1 0 1 "" NA18507 esv2110246 8 117533641 117534064 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4668902 S 1 0 1 "" NA18507 essv1309 8 117692900 117714868 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18980 nsv8378 8 117698548 117702372 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17365 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 nsv824722 8 117699377 117702164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432198 S 31 0 1 "" AK20 nsv525169 8 117699864 117701145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701243 S 2026 0 1 "" nsv818653 8 117699864 117701145 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417218 S 112 0 1 "" NA18576 nsv442119 8 117699864 117702442 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv2250e1 8 117699864 117708713 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6493,essv5890,essv201 M 271 0 0 "" NA18576,NA18636,NA18994 essv3425 8 117699864 117714868 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18956 esv1006976 8 117830969 117836093 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564505 S 3 1 0 EIF3H HuRef nsv821264 8 117831250 117831693 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420775 S 1 1 0 EIF3H NA10851 nsv824723 8 117831250 117831693 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432994,nssv1429955,nssv1438958,nssv1431455,nssv1426827,nssv1421858,nssv1441200 M 31 0 7 EIF3H AK14,AK18,AK6,NA18969,NA18972,NA18973,NA18997 nsv824724 8 117847757 117848346 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432199 S 31 0 1 UTP23 AK20 nsv831434 8 117853648 118047006 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447439 S 95 1 0 C8orf85,MIR3610,RAD21,RAD21-AS1,SLC30A8,UTP23 nsv510168 8 117868843 117874843 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622169,nssv618299,nssv621346 M 4 0 3 "" CHM,NA10860,NA15510 nsv6359 8 117931822 117965858 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8543 S 9 1 0 MIR3610,RAD21,RAD21-AS1 NA12156 esv271630 8 117935455 117935528 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562255,essv2575030,essv2524180,essv2574972,essv2530378,essv2572885 M 157 6 0 Samples from several populations that are part of the HapMap project. RAD21 NA18909,NA19102,NA19129,NA19138,NA19141,NA19143 dgv7871n71 8 117950574 117964420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891408,nsv891407 M 6533 0 2 MIR3610,RAD21,RAD21-AS1 SP54725,SP57469 nsv891409 8 118018167 118041245 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509916,nssv1510762 M 6533 0 2 C8orf85,SLC30A8 SP54956,SP54988 nsv6360 8 118074551 118100095 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8544 S 9 0 1 SLC30A8 NA12156 esv21665 8 118074664 118077344 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17971 S 451 0 1 SLC30A8 NA19108 nsv527876 8 118081446 118106497 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704377 S 2026 0 1 SLC30A8 nsv819760 8 118228032 118228626 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419020 S 2 1 0 SLC30A8 AK1 nsv819890 8 118254160 118254340 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419037 S 2 0 1 SLC30A8 AK1 esv2288050 8 118269190 118269633 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4818603 S 1 0 1 "" NA18507 esv2439441 8 118292117 118293645 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5250527 S 1 0 1 "" NA18507 esv1999169 8 118292566 118293185 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4678772 S 1 0 1 "" NA18507 esv4645 8 118292656 118293073 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27086 S 1 0 1 Single Asian sample YH "" YH esv1715127 8 118292723 118293003 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072841 S 2 0 1 "" HuRef nsv397892 8 118292724 118293003 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416470 M 24 "" nsv831435 8 118335598 118535832 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447441 S 95 1 0 "" esv269746 8 118370298 118370685 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511753,essv2510721,essv2495503,essv2509633 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18916,NA19129 esv267996 8 118445114 118445440 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521012,essv2557377,essv2537043,essv2539393,essv2526678,essv2574697,essv2530436,essv2572726,essv2568624 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18517,NA18912,NA19114,NA19138,NA19141,NA19143,NA19147 nsv831436 8 118453644 118612478 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447442 S 95 0 1 MED30 esv2461985 8 118689390 118690347 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322884 S 1 1 0 "" NA18507 esv1763454 8 118689913 118689913 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153968 S 2 1 0 "" HuRef nsv831438 8 118749077 118892781 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447443 S 95 0 1 EXT1 nsv891410 8 118754175 118799525 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550484 S 6533 1 0 "" MS18431 esv2472467 8 118781475 118783073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5330147 S 1 0 1 "" NA18507 esv2307927 8 118781793 118782491 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4998196 S 1 0 1 "" NA18507 esv2996 8 118781924 118782387 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25437 S 1 0 1 Single Asian sample YH "" YH esv6962 8 118781984 118782315 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29403 S 1 0 1 "" SJK nsv521355 8 118797555 118797995 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697966 S 2026 0 1 "" nsv831439 8 118816533 118968299 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447444 S 95 1 0 EXT1 nsv820050 8 118880961 118881186 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419303 S 2 1 0 EXT1 AK1 nsv831440 8 118941111 119121450 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447445 S 95 1 0 EXT1 nsv512062 8 118942861 118945105 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624615 S 1 0 1 EXT1 1 esv29814 8 118943234 118944799 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12380 S 451 0 5 EXT1 NA11931,NA11993,NA12004,NA12006,NA12878 nsv515058 8 118943264 118944072 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627078 S 1414 0 0 EXT1 nsv891411 8 118961077 119011879 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533404 S 6533 0 1 EXT1 MS11159 nsv465785 8 118971109 119039481 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541521 S 1557 0 1 EXT1 1780862373_A esv2606814 8 119049043 119050662 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284069 S 1 0 1 EXT1 NA18507 esv1925197 8 119049774 119050502 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798818 S 1 0 1 EXT1 NA18507 esv7867 8 119049932 119050291 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30308 S 1 0 1 EXT1 SJK dgv252n6 8 119049939 119050304 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv397395,nsv398105 M 24 EXT1 esv2447144 8 119049946 119050296 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312847 S 1 0 1 EXT1 NA18507 nsv513684 8 119074056 119077355 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626936 S 1 0 0 EXT1 1 nsv512063 8 119076483 119081914 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624616 S 1 0 1 EXT1 1 nsv513685 8 119077206 119084641 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626937 S 1 0 0 EXT1 1 nsv831441 8 119124551 119332151 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447446 S 95 1 0 EXT1,SAMD12 esv2752195 8 119128000 119209000 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987473,essv6984007,essv6988742 M 771 1 0 EXT1 BEC_742 nsv526044 8 119148377 119151385 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702278 S 2026 0 1 EXT1 nsv821660 8 119151243 119381364 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421216 S 31 0 1 EXT1,SAMD12 nsv891412 8 119176232 119208566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554871,nssv1553462,nssv1551028,nssv1552194 M 6533 0 4 EXT1 MS18742,MS19277,MS20041,MS21059 esv268810 8 119211625 119211789 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508918,essv2506016 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18523 esv2141282 8 119234537 119234971 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793313 S 1 0 1 "" NA18507 esv3648 8 119234631 119234853 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26089 S 1 0 1 Single Asian sample YH "" YH esv2653643 8 119234708 119234779 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343531 S 1 0 1 "" NA18507 nsv831442 8 119250856 119459303 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447447 S 95 0 1 SAMD12 nsv8379 8 119281718 119285726 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19272 S 31 1 0 Samples from several populations that are part of the HapMap project. SAMD12 NA18502 esv25257 8 119283554 119284168 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18915 S 451 1 0 SAMD12 NA18502 nsv8381 8 119315263 119319122 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21570 S 31 0 1 Samples from several populations that are part of the HapMap project. SAMD12 NA19221 nsv6361 8 119331973 119365964 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv766 S 9 1 0 SAMD12 NA19240 esv269087 8 119341038 119341123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514312 S 157 1 0 Samples from several populations that are part of the HapMap project. SAMD12 NA12874 esv8774 8 119377567 119379352 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31215 S 1 0 0 SAMD12 SJK nsv8382 8 119393405 119410247 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18329 S 31 1 0 Samples from several populations that are part of the HapMap project. SAMD12 NA19173 nsv831443 8 119459771 119659843 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447448 S 95 1 0 SAMD12 nsv516067 8 119489440 119490201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654419,nssv665980 M 2026 0 2 SAMD12 esv21710 8 119514196 119515962 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20481 S 451 2 0 SAMD12 NA11993,NA18502 esv2467119 8 119515599 119517224 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214062 S 1 0 1 SAMD12 NA18507 esv1943293 8 119516040 119516736 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518917 S 1 0 1 SAMD12 NA18507 esv3203 8 119516142 119516596 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25644 S 1 0 1 Single Asian sample YH SAMD12 YH esv1337695 8 119516239 119516550 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3831547 S 2 0 1 SAMD12 HuRef esv7068 8 119516251 119516535 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29509 S 1 0 1 SAMD12 SJK nsv519793 8 119516601 119517449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697055 S 2026 0 1 SAMD12 esv2499592 8 119550808 119551572 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205289 S 1 1 0 SAMD12 NA18507 esv1628861 8 119550982 119550982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813170 S 2 1 0 SAMD12 HuRef esv274277 8 119560473 119560727 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579150,essv2579513 M 7 2 0 Samples from several populations that are part of the HapMap project. SAMD12 NA19239,NA19240 esv267975 8 119560474 119560621 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511728,essv2493267,essv2496190,essv2501100,essv2493710,essv2494953,essv2500654,essv2513283,essv2511131,essv2497851,essv2501229,essv2506593,essv2497013,essv2501938,essv2498181 M 157 15 0 Samples from several populations that are part of the HapMap project. SAMD12 NA18499,NA18504,NA18511,NA18516,NA18517,NA18520,NA18571,NA18907,NA18944,NA18945,NA19093,NA19108,NA19190,NA19239,NA19240 nsv510169 8 119570869 119576869 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621347 S 4 0 1 SAMD12 NA15510 nsv6362 8 119623917 119668450 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1767 S 9 0 1 SAMD12 NA18555 nsv891413 8 119676462 119748849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581539 S 6533 0 1 SAMD12,SAMD12-AS1 IS35622 esv1928288 8 119687009 119687433 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4854849 S 1 0 1 SAMD12 NA18507 nsv465786 8 119696852 119836346 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541522 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SAMD12,SAMD12-AS1 HGDP00262 nsv465787 8 119710350 119795423 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541523 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SAMD12-AS1 HGDP00054 nsv470231 8 119710350 119795423 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546758 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SAMD12-AS1 HGDP00054 esv2651820 8 119736677 119738153 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167018 S 1 0 1 SAMD12-AS1 NA18507 esv267536 8 119790839 119791539 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510115,essv2495458,essv2511461,essv2505133,essv2499434,essv2501685,essv2512258,essv2513188,essv2495359,essv2507739,essv2505008,essv2497274,essv2512945,essv2504554,essv2507886,essv2506324,essv2500610,essv2510032,essv2499215,essv2504922,essv2503077,essv2497854,essv2505446,essv2513028 M 157 24 0 Samples from several populations that are part of the HapMap project. SAMD12-AS1 NA10847,NA11829,NA11919,NA11920,NA11995,NA12044,NA12144,NA12155,NA12249,NA12287,NA12751,NA12828,NA18545,NA18547,NA18563,NA18564,NA18566,NA18571,NA18593,NA18605,NA18942,NA18943,NA18945,NA18952 nsv891414 8 119824671 119950731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507234 S 6533 1 0 "" SP54509 nsv831444 8 119826536 119985147 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447449 S 95 0 1 "" nsv470234 8 119925390 119975711 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546759 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01049 nsv517081 8 119941620 119956070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653756,nssv696487,nssv662592 M 2026 0 3 "" nsv891415 8 119956104 119990535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550485 S 6533 1 0 "" MS18431 esv2308898 8 119993802 119994231 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4767786 S 1 0 1 "" NA18507 nsv8383 8 119995336 120003603 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19917 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2467842 8 120001378 120003275 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306667 S 1 0 1 "" NA18507 essv8481 8 120012490 120193443 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. COLEC10,TNFRSF11B NA18516 essv5532 8 120020198 120344931 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. COLEC10,MAL2,TNFRSF11B NA18529 esv2005767 8 120028469 120028892 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918919 S 1 0 1 TNFRSF11B NA18507 nsv522241 8 120064878 120097052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695021 S 2026 0 1 "" nsv437631 8 120085144 120120837 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467512 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv8384 8 120088183 120098730 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18961,nssv18148,nssv19873 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18504,NA19144,NA19240 esv25462 8 120088560 120096979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21198 S 451 0 4 "" NA18502,NA18523,NA18861,NA19240 nsv465788 8 120088774 120091667 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541524 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01285 nsv818654 8 120088774 120091667 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416855,nssv1418296,nssv1418168,nssv1418297,nssv1418167,nssv1418169,nssv1416856,nssv1416854 M 112 0 8 "" NA19093,NA19094,NA19143,NA19144,NA19145,NA19238,NA19239,NA19240 esv2421422 8 120088774 120097052 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5115786,essv5100474,essv5003942,essv5150659,essv5044392,essv5133542,essv5034085,essv5024507,essv5059225,essv5079571,essv5153420,essv5102490,essv5070669,essv5128912,essv5006095,essv5126750,essv5151236,essv5128739,essv5090215,essv5073981,essv5098851,essv5098668,essv5022075,essv5079255,essv5140595,essv5137942,essv5142245,essv5015819,essv5088530,essv5061202,essv5065785,essv5127406,essv5061922,essv5128942,essv5006812,essv5100931,essv5123084,essv5124485,essv5105801,essv5022963,essv5135589,essv5082832,essv5115426,essv5058140,essv5007082,essv5050954,essv5079128,essv5058568,essv5059130,essv5125899,essv5104561,essv5059951,essv5003726,essv5082888,essv5145050,essv5122354,essv5126563,essv5012563,essv5078725,essv5016152,essv5049516,essv5130327,essv5083135,essv5154381,essv5020642,essv5034458,essv5089849,essv5084706,essv5101754,essv5147234,essv5099914,essv5056105,essv5093735,essv5015235,essv5043242,essv5061145,essv5038502,essv5037331,essv5144864,essv5011650 M 1184 0 80 "" NA18485,NA18487,NA18488,NA18500,NA18504,NA18510,NA18861,NA18912,NA18933,NA18935,NA19046,NA19093,NA19094,NA19095,NA19098,NA19117,NA19122,NA19123,NA19143,NA19144,NA19152,NA19154,NA19159,NA19161,NA19174,NA19175,NA19176,NA19182,NA19183,NA19197,NA19200,NA19201,NA19203,NA19204,NA19210,NA19238,NA19239,NA19240,NA19248,NA19307,NA19309,NA19314,NA19317,NA19319,NA19373,NA19374,NA19377,NA19381,NA19382,NA19435,NA19437,NA19446,NA19462,NA19466,NA19701,NA19711,NA19712,NA19818,NA19834,NA19836,NA20301,NA20302,NA20346,NA20347,NA20356,NA20357,NA21307,NA21352,NA21364,NA21371,NA21391,NA21418,NA21421,NA21491,NA21517,NA21573,NA21577,NA21583,NA21650,NA21685 nsv515918 8 120088774 120098890 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675553,nssv677252,nssv683634,nssv661212,nssv652297,nssv653492,nssv675272,nssv653223,nssv657285,nssv679033,nssv655415,nssv680726,nssv666425,nssv680476,nssv678157,nssv679815,nssv675457,nssv661752,nssv666910,nssv666169,nssv687186,nssv693947,nssv666573,nssv658136,nssv655390,nssv688181,nssv686323,nssv663590,nssv681350,nssv670498,nssv673976,nssv672095,nssv699570,nssv660641,nssv684376,nssv671246,nssv664796,nssv686538,nssv666356,nssv663745,nssv690357,nssv693077,nssv663910,nssv660549,nssv659078,nssv685109,nssv653588,nssv672501,nssv670520,nssv660394,nssv689009,nssv661308,nssv671689,nssv663226,nssv681679,nssv691495,nssv651755,nssv667761,nssv674038,nssv665887,nssv673811,nssv657516,nssv663995,nssv684723,nssv666931,nssv673696,nssv652792,nssv686851,nssv677584,nssv686588,nssv678877,nssv665000,nssv660604,nssv693921,nssv669394,nssv694089,nssv658647,nssv660701,nssv685853,nssv658700,nssv673544,nssv664765,nssv664174,nssv663312,nssv667928,nssv671617,nssv684304,nssv680382,nssv690469,nssv689225,nssv680100,nssv685570,nssv675651,nssv669523 M 2026 1 93 "" esv22200 8 120178246 120181094 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11923 S 451 0 1 COLEC10 NA12776 nsv521945 8 120195147 120196767 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694714 S 2026 1 0 "" esv274533 8 120204683 120204956 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580126,essv2580454,essv2579937,essv2580601,essv2579210,essv2579541 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268378 8 120204814 120205032 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510270,essv2506762,essv2502321,essv2501690,essv2505512,essv2513212,essv2508589,essv2502523,essv2507728,essv2505073,essv2508803,essv2500283,essv2502795,essv2511888,essv2494123,essv2504254,essv2509747,essv2496144,essv2501148,essv2494861,essv2508735,essv2494601,essv2497176,essv2500019,essv2508238,essv2499854,essv2507840,essv2506396,essv2511267,essv2507663,essv2508145,essv2508460,essv2508638,essv2510081,essv2499224,essv2512885,essv2498503,essv2505875,essv2513305,essv2509259,essv2507346,essv2495668,essv2511687,essv2504970,essv2497840,essv2502406,essv2509397,essv2500516,essv2497436,essv2495134,essv2502732,essv2512768,essv2504705,essv2506451,essv2509530,essv2497660,essv2510506,essv2499819,essv2512071,essv2501757,essv2498109,essv2502273,essv2503645,essv2495753,essv2503978,essv2495058,essv2511518,essv2504334,essv2499543 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10851,NA11918,NA12004,NA12144,NA12154,NA12249,NA12717,NA12750,NA12751,NA12828,NA12878,NA12891,NA12892,NA18499,NA18502,NA18505,NA18508,NA18511,NA18516,NA18519,NA18532,NA18550,NA18552,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18576,NA18579,NA18582,NA18592,NA18593,NA18605,NA18609,NA18858,NA18861,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18945,NA18948,NA18953,NA18956,NA18959,NA18964,NA18965,NA18980,NA19099,NA19108,NA19129,NA19147,NA19172,NA19225,NA19238,NA19239,NA19240,NA19257 nsv8385 8 120218251 120230470 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18518,nssv16937,nssv18249,nssv17796,nssv16475,nssv16522,nssv16796,nssv21600,nssv17793,nssv15641,nssv19903,nssv17132,nssv17476,nssv16309,nssv18991,nssv17395,nssv20363,nssv17344,nssv16824,nssv17778,nssv16300,nssv17445,nssv17767 M 31 23 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18504,NA18537,NA18552,NA18563,NA18564,NA18572,NA18942,NA18972,NA18975,NA18980,NA19007,NA19221,NA19240 nsv6363 8 120219412 120258138 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5124,nssv3683 M 9 0 2 "" NA12878,NA19129 nsv820194 8 120221811 120230267 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419871 S 2 1 0 "" AK1 esv26454 8 120222264 120230400 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20061 S 451 23 2 "" NA07037,NA11894,NA11931,NA11993,NA11995,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18508,NA18861,NA18916,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820447 8 120222264 120230400 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420776 S 1 0 1 "" NA10851 nsv824725 8 120222264 120230400 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441185 S 31 0 1 "" NA18547 esv2589587 8 120223209 120231065 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266738 S 1 0 1 "" NA18507 nsv436588 8 120223528 120230562 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466487 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2297984 8 120223538 120230591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993943 S 1 0 1 "" NA18507 esv989618 8 120223584 120231446 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564204 S 3 0 1 "" HuRef nsv499409 8 120223723 120230399 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586096 S 9 0 1 "" nsv395817 8 120223724 120230396 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414395 M 24 "" nsv442529 8 120223965 120228627 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2542870 8 120224181 120230994 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316397 S 1 0 1 "" NA18507 nsv515059 8 120225088 120230264 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627990 S 1414 0 1 "" nsv510170 8 120271300 120277300 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618300 S 4 0 1 "" CHM nsv891416 8 120364973 120422243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523836 S 6533 0 1 "" SP54223 esv23480 8 120394363 120397243 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17748,esv9917 M 451 0 2 "" NA18523,NA18861 esv2632304 8 120395027 120397109 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192065 S 1 0 1 "" NA18507 nsv891417 8 120399121 120434500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517513 S 6533 0 1 "" SP57299 nsv521624 8 120503157 120504886 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698242 S 2026 0 1 NOV nsv527032 8 120503157 120519178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703407 S 2026 0 1 NOV esv1095707 8 120580553 120580553 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256228 S 2 1 0 "" HuRef nsv891418 8 120670146 121370655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529221 S 6533 1 0 COL14A1,DEPTOR,DSCC1,ENPP2,TAF2 SP81481 esv275500 8 120778639 120781860 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585978,essv2585574 M 1250 1 1 "" nsv510171 8 120843463 120849463 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618301 S 4 0 1 TAF2 CHM esv25627 8 120854596 120855174 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21169 S 451 0 1 TAF2 NA15510 esv2485427 8 120855073 120857215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220729 S 1 0 1 TAF2 NA18507 esv2310118 8 120855730 120856870 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4686982 S 1 0 1 TAF2 NA18507 esv273446 8 120869906 120870180 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579886 S 7 1 0 Samples from several populations that are part of the HapMap project. TAF2 NA12892 esv268830 8 120869925 120870175 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496643,essv2511177,essv2495279,essv2499393,essv2502304,essv2512462,essv2499456,essv2495354,essv2510298,essv2503372,essv2508555,essv2503778,essv2493404,essv2502774,essv2511848,essv2494850,essv2500367,essv2503295,essv2499943,essv2500671,essv2494416,essv2500150,essv2507645,essv2512735,essv2508200,essv2508707,essv2509960,essv2496090,essv2512902,essv2507066,essv2511686,essv2504920,essv2503076,essv2497882,essv2503543,essv2512325,essv2493142,essv2497450,essv2495985,essv2502733,essv2500796,essv2503630,essv2495817,essv2503991,essv2499511 M 157 45 0 Samples from several populations that are part of the HapMap project. TAF2 NA06986,NA07000,NA07037,NA07357,NA11894,NA11931,NA11992,NA11994,NA12004,NA12043,NA12044,NA12287,NA12414,NA12716,NA12717,NA12761,NA12776,NA12892,NA18499,NA18519,NA18537,NA18542,NA18558,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18609,NA18870,NA18940,NA18942,NA18943,NA18945,NA18947,NA18949,NA18951,NA18959,NA18961,NA18965,NA18973 nsv524750 8 121059249 121062315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700741 S 2026 0 1 DEPTOR nsv891419 8 121059636 121116979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523766 S 6533 0 1 DEPTOR SP54190 nsv528705 8 121061745 121062315 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705352 S 2026 0 1 DEPTOR nsv528628 8 121088918 121093148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705258 S 2026 0 1 DEPTOR nsv6364 8 121176330 121221387 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8545 S 9 0 1 COL14A1 NA12156 esv1717739 8 121200415 121200415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4284701 S 2 1 0 "" HuRef dgv7872n71 8 121264081 121723083 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891421,nsv891420 M 6533 2 0 COL14A1,MRPL13,MTBP,SNTB1 IS30180,IS34749 esv996748 8 121502870 121511270 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565576 S 3 0 1 MRPL13 HuRef nsv470235 8 121506403 121595928 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546760 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MRPL13,MTBP HGDP01199 nsv519152 8 121527638 121640447 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696629 S 2026 1 0 MTBP,SNTB1 nsv819372 8 121581838 121583980 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419394 S 2 0 1 MTBP AK1 nsv6366 8 121593009 121599835 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8547 S 9 0 1 MTBP NA12156 esv1399764 8 121603286 121603457 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686243 S 2 0 1 MTBP HuRef esv1445617 8 121603481 121603607 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179070 S 2 0 1 MTBP HuRef nsv6367 8 121644109 121664094 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3684 S 9 1 0 SNTB1 NA12878 nsv6368 8 121673155 121707615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2798 S 9 1 0 SNTB1 NA18555 nsv6369 8 121723846 121769101 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8548 S 9 0 1 SNTB1 NA12156 esv2627304 8 121749904 121751510 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277327 S 1 0 1 SNTB1 NA18507 nsv891422 8 121750038 121888659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564215 S 6533 1 0 SNTB1 IS30180 esv2384067 8 121750670 121751377 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4851588 S 1 0 1 SNTB1 NA18507 nsv396363 8 121750854 121751172 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414941 M 24 SNTB1 esv991277 8 121750857 121751175 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580765 S 3 0 1 SNTB1 HuRef esv9493 8 121750865 121751185 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31934 S 1 0 1 SNTB1 SJK nsv527545 8 121763500 121763831 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704006 S 2026 1 0 SNTB1 nsv518562 8 121831867 121832227 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696005 S 2026 0 1 SNTB1 dgv472n21 8 121831867 121839737 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527375,nsv518569 M 2026 0 2 SNTB1 esv27731 8 121832127 121833412 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12031 S 451 0 1 SNTB1 NA19129 essv10963 8 121834882 121898100 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNTB1 NA19092 dgv7873n71 8 121916824 122094740 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891423,nsv891425 M 6533 2 0 "" IS30180,MS16783 esv2541936 8 121923324 121924916 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177876 S 1 0 1 "" NA18507 esv2040336 8 121923727 121924444 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4726047 S 1 0 1 "" NA18507 esv4404 8 121923884 121924295 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26845 S 1 0 1 Single Asian sample YH "" YH esv5575 8 121923936 121924248 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28016 S 1 0 1 "" SJK dgv253n6 8 121923941 121924259 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396486,nsv397169 M 24 "" nsv437632 8 121930646 121946257 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467513 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 esv8305 8 121941786 121943597 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30746 S 1 0 1 "" SJK esv24095 8 121941787 121943573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14825 S 451 0 2 "" NA12287,NA19129 nsv438079 8 121941910 121942526 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470043,nssv470042 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19127,NA19129 nsv891424 8 121942526 122462439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553136 S 6533 1 0 "" MS19756 nsv528893 8 121983746 121997743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705577 S 2026 0 1 "" nsv396462 8 121999786 121999891 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415040 M 24 "" esv1408973 8 122025423 122025423 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3636723 S 2 1 0 "" HuRef nsv891426 8 122147515 122462439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545413 S 6533 1 0 "" MS16783 esv274944 8 122175959 122179907 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585177,essv2585410 M 1250 1 1 "" esv271604 8 122224441 122224773 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565638,essv2546541,essv2526175,essv2543982,essv2556598,essv2568088,essv2523450,essv2570406,essv2535327,essv2544252,essv2552274,essv2520704,essv2529328,essv2565445,essv2576365,essv2554896,essv2561828,essv2537360,essv2547070,essv2532120,essv2550077,essv2544748,essv2562951,essv2523535,essv2552949,essv2541336,essv2542655,essv2540352,essv2524479,essv2564961,essv2534644,essv2561011,essv2539878,essv2549540,essv2519839,essv2560046,essv2522142,essv2566266,essv2531083,essv2532673,essv2528915,essv2541674,essv2570252,essv2553190,essv2535829,essv2572536,essv2559296,essv2539342,essv2578386,essv2555257,essv2533601,essv2555534,essv2567222,essv2566525,essv2530060,essv2527593,essv2555817,essv2522590,essv2573568,essv2543246,essv2573303,essv2577061,essv2526862,essv2575510,essv2571516,essv2551262,essv2537950,essv2533061,essv2554661 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA11829,NA11881,NA11918,NA11992,NA11994,NA11995,NA12004,NA12044,NA12249,NA12414,NA12489,NA12716,NA12749,NA12812,NA12814,NA12872,NA12874,NA12878,NA12892,NA18505,NA18511,NA18526,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18912,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18960,NA18964,NA18965,NA18969,NA18970,NA19005,NA19099,NA19238,NA19257 esv274638 8 122224443 122224775 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584323,essv2584848,essv2583556 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv1082081 8 122282268 122282268 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709832 S 2 1 0 "" HuRef esv1563805 8 122282328 122282328 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899288 S 2 1 0 "" HuRef nsv398319 8 122283003 122283003 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416897 M 24 "" esv28517 8 122308856 122309899 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19218,esv13131 M 451 0 11 "" NA07045,NA18502,NA18505,NA18508,NA18517,NA18861,NA18909,NA19108,NA19129,NA19190,NA19240 esv273623 8 122349749 122349861 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580164,essv2579956 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv520756 8 122387731 122411127 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690053,nssv685468,nssv675034,nssv677931 M 2026 4 0 "" esv28813 8 122387996 122408704 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18662 S 451 1 0 "" NA19257 esv2421775 8 122389741 122411127 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5038003,essv5034236,essv5006851,essv5029565,essv5003779,essv5020092,essv5147319,essv5105971,essv5140180,essv5106769,essv5045761,essv5055068,essv5049217,essv5076866,essv5134862,essv5110646,essv5143935,essv5074006 M 1184 18 0 "" NA18518,NA18520,NA18910,NA19149,NA19153,NA19154,NA19201,NA19257,NA19258,NA19711,NA19909,NA19916,NA19919,NA19982,NA20317,NA20340,NA20346,NA20347 nsv465791 8 122389741 122411127 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541525 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00931 nsv442120 8 122390260 122408901 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515061 8 122395640 122408528 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627991 S 1414 1 0 "" esv272956 8 122397939 122398024 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581352 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv831445 8 122406058 122578481 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447450 S 95 1 0 "" esv21871 8 122469889 122499271 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10312 S 451 1 0 "" NA19257 esv2421507 8 122473188 122498767 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5131482,essv5121757,essv5080444,essv5147719,essv5051740,essv5087304,essv5101333,essv5066570,essv5097099,essv5144334,essv5081781,essv5060245,essv5098586,essv5054342,essv5024170,essv5056516,essv5147252,essv5136973 M 1184 18 0 "" NA18518,NA18520,NA18910,NA19149,NA19153,NA19154,NA19201,NA19257,NA19258,NA19711,NA19909,NA19916,NA19919,NA19982,NA20317,NA20340,NA20346,NA20347 nsv520758 8 122474278 122496853 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690054,nssv701273,nssv675035 M 2026 3 0 "" nsv465793 8 122474278 122521501 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541526 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01199 nsv442121 8 122474363 122496536 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515062 8 122474616 122491600 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627993 S 1414 1 0 "" nsv819192 8 122479842 122485696 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419740 S 2 1 0 "" AK1 nsv891427 8 122480530 122541478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539243,nssv1552587 M 6533 0 2 "" MS14268,MS19503 nsv525416 8 122494517 122514503 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701540 S 2026 0 1 "" nsv527877 8 122495263 122541478 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704378 S 2026 0 1 "" nsv396288 8 122520637 122520792 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414866 M 24 "" nsv520451 8 122534792 122535608 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697429 S 2026 0 1 "" nsv6370 8 122539710 122575047 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv767 S 9 1 0 "" NA19240 nsv524843 8 122579622 122588116 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700845 S 2026 1 0 "" nsv831446 8 122604220 122781140 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447452 S 95 0 1 HAS2,HAS2-AS1 esv33669 8 122732489 122732754 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97193,essv99381 M 51 2 0 "" 22075,22335 esv272145 8 122732529 122732846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514078,essv2516381,essv2518103,essv2517206,essv2513601 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12043,NA12814,NA12872,NA18970 esv32856 8 122733919 122743541 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100074 S 51 0 1 "" 22086 esv274683 8 122800157 122800516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580364,essv2579861 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv268716 8 122800172 122800506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546303,essv2542340,essv2523065,essv2577619,essv2521751,essv2550768,essv2535404,essv2520627,essv2547371,essv2558262,essv2564481,essv2559748,essv2530680,essv2528568,essv2546795,essv2557012,essv2566918,essv2524119,essv2568706,essv2549753,essv2551508,essv2554484,essv2525001 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA11881,NA11919,NA11931,NA12043,NA12144,NA12155,NA12249,NA12716,NA12717,NA12750,NA12751,NA12776,NA12873,NA12891,NA12892,NA18501,NA18853,NA19129,NA19147,NA19225,NA19257 esv1130410 8 122863290 122863650 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864281 S 2 0 1 "" HuRef esv2752207 8 122938832 123031029 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984304,essv6989941 M 771 0 1 "" BEC_687 esv268753 8 122943889 122944190 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515181 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv465795 8 122964440 123078880 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541528 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01095 nsv465796 8 123073238 123129701 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541529 S 1557 0 1 "" 1780862195_A nsv819088 8 123092932 123097325 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419633 S 2 0 1 "" AK1 nsv465797 8 123109377 123116590 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541530 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01241 esv1966863 8 123117412 123118066 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4518359 S 1 0 1 "" NA18507 nsv471764 8 123127800 123130521 CNV Loss Hinds et al 2006 16327809 Oligo_aCGH,PCR Custom Perlegen arrays nssv646045 M 0.108 95 "" nsv8386 8 123127942 123130522 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20504,nssv19911 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18517,NA18860 esv24625 8 123128177 123130121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12147 S 451 0 3 "" NA18508,NA18517,NA18523 esv2422085 8 123129012 123130243 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5145410,essv5131003,essv5034218,essv5033810,essv5147516,essv5068444,essv5020060,essv5076787,essv5115811,essv5020934,essv5102113,essv5069538,essv5054826,essv5067334,essv5038580,essv5087909,essv5157920,essv5106658,essv5022262,essv5134744,essv5134040,essv5010171,essv5120383,essv5151195,essv5136908,essv5038592,essv5045669,essv5004732,essv5052922,essv5061195,essv5013266,essv5130456,essv5139183,essv5057485,essv5128307,essv5009028,essv5038531,essv5078421,essv5127244,essv5038458,essv5092098,essv5050343,essv5101087,essv5089368,essv5036654,essv5062830,essv5097289,essv5020453,essv5157116,essv5037698,essv5148691,essv5005461,essv5109462,essv5022928,essv5021754,essv5121874,essv5011018,essv5131899,essv5052950,essv5042410,essv5107688,essv5126605,essv5043719 M 1184 0 63 "" NA12336,NA12343,NA18486,NA18499,NA18508,NA18515,NA18517,NA18852,NA18859,NA18860,NA18912,NA18914,NA18934,NA19036,NA19041,NA19046,NA19093,NA19101,NA19102,NA19103,NA19107,NA19109,NA19121,NA19122,NA19130,NA19159,NA19161,NA19176,NA19184,NA19186,NA19189,NA19191,NA19203,NA19224,NA19226,NA19236,NA19237,NA19256,NA19316,NA19379,NA19393,NA19399,NA19466,NA19473,NA19818,NA19828,NA20277,NA20322,NA20344,NA20345,NA20348,NA20349,NA20350,NA20364,NA20529,NA21333,NA21339,NA21475,NA21477,NA21488,NA21510,NA21611,NA21784 nsv818656 8 123129597 123130027 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416763,nssv1416762 M 112 0 2 "" NA19159,NA19161 nsv516987 8 123129597 123131375 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658137,nssv654023,nssv694140,nssv671797,nssv657795,nssv674322,nssv689528,nssv665280,nssv676494,nssv681982,nssv667929,nssv676188,nssv656712,nssv680759,nssv653556,nssv677683,nssv674429,nssv673324,nssv674841,nssv686884,nssv679412,nssv667455,nssv659860,nssv663531,nssv667353,nssv681423,nssv658271,nssv662593,nssv665420,nssv676437,nssv686243,nssv673812,nssv665507,nssv671951,nssv687508,nssv672502,nssv662034,nssv656370,nssv666574,nssv671455,nssv683905,nssv671137,nssv663821,nssv653398,nssv685571,nssv671690,nssv673977,nssv687877,nssv699370,nssv671600,nssv692389,nssv673215,nssv674262,nssv693507,nssv686610,nssv661851,nssv668066,nssv690822,nssv676971,nssv671654,nssv686324,nssv690470,nssv663096,nssv665465,nssv681386,nssv686511,nssv688675,nssv656558,nssv673739,nssv686539,nssv665912,nssv667478,nssv652677,nssv666442,nssv671633 M 2026 1 74 "" nsv818657 8 123129597 123131375 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418298,nssv1416465,nssv1417898,nssv1416464 M 112 1 3 "" NA18516,NA18517,NA18852,NA19093 nsv438080 8 123139715 123146817 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470044 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18516 esv271880 8 123167957 123168129 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496620,essv2499493,essv2502851,essv2503042,essv2509788,essv2493700,essv2507287,essv2503073,essv2505637,essv2506408,essv2499749,essv2511524 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11894,NA12044,NA12156,NA18507,NA18508,NA18517,NA18912,NA18943,NA19005,NA19108,NA19225 esv4589 8 123182622 123184310 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27030 S 1 0 1 Single Asian sample YH "" YH nsv824726 8 123183037 123184234 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439801,nssv1432200,nssv1427641 M 31 0 3 "" AK20,NA18537,NA18968 nsv465798 8 123252137 123740177 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541531 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01095 nsv510172 8 123255106 123261106 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618302,nssv621348 M 4 0 2 "" CHM,NA15510 nsv507487 8 123396528 123402528 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621929,nssv620430,nssv623055 M 4 3 0 "" NA10860,NA15510,NA18994 nsv831447 8 123525927 123697987 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447453,nssv1447454 M 95 1 1 "" esv267935 8 123596956 123597280 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543973,essv2548557,essv2573968 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12045,NA18951 nsv465800 8 123621921 123677896 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541532 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00699 esv2199955 8 123644565 123644952 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4956478 S 1 0 1 "" NA18507 nsv6371 8 123706924 123721053 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv768 S 9 1 0 "" NA19240 esv273563 8 123713029 123713114 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581246 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv521469 8 124242076 124247107 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698079 S 2026 0 1 "" nsv831449 8 124345866 124540921 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447455 S 95 0 1 ATAD2,WDYHV1,ZHX1,ZHX1-C8ORF76 nsv512064 8 124395457 124398960 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624617 S 1 0 1 "" 1 nsv891428 8 124416409 124455963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502023 S 6533 0 1 ATAD2 SP51037 esv1157152 8 124504839 124504839 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4067224 S 2 1 0 WDYHV1 HuRef nsv831450 8 124540922 124730540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447456 S 95 1 0 FBXO32,KLHL38 nsv525935 8 124569328 124576109 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702141 S 2026 1 0 "" nsv525827 8 124624416 124634492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702016 S 2026 0 1 "" nsv520481 8 124634384 124634492 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697445 S 2026 0 1 "" esv2076556 8 124636213 124636645 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644965 S 1 0 1 "" NA18507 esv1468331 8 124680470 124680470 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129436 S 2 1 0 "" HuRef esv2153244 8 124723285 124723738 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822301 S 1 0 1 "" NA18507 esv274131 8 124749239 124749452 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580528 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271388 8 124749331 124749660 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565889,essv2575948,essv2525914,essv2536789,essv2522987,essv2543898,essv2568140,essv2545406,essv2531790,essv2577523,essv2570522,essv2548471,essv2521761,essv2576858,essv2550717,essv2525362,essv2550488,essv2535251,essv2553964,essv2552298,essv2520355,essv2564319,essv2553622,essv2576151,essv2519927,essv2563981,essv2554836,essv2530726,essv2561860,essv2557170,essv2551724,essv2532348,essv2569333,essv2537108,essv2569755,essv2544860,essv2523835,essv2541338,essv2542947,essv2524473,essv2534892,essv2549317,essv2559781,essv2565918,essv2531003,essv2532524,essv2528996,essv2567493,essv2541545,essv2553334,essv2535610,essv2559371,essv2555787,essv2566647,essv2527435,essv2557650,essv2534287,essv2522454,essv2531432,essv2573388,essv2572114,essv2571144,essv2536224,essv2537872,essv2548713,essv2554733,essv2548038,essv2524826,essv2557916 M 157 69 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11918,NA11920,NA11931,NA11992,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12489,NA12716,NA12751,NA12763,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA18501,NA18504,NA18505,NA18508,NA18517,NA18520,NA18526,NA18537,NA18545,NA18550,NA18555,NA18561,NA18564,NA18570,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18605,NA18608,NA18638,NA18945,NA18948,NA18952,NA18953,NA18959,NA18960,NA18961,NA18964,NA18973,NA19238 esv1211676 8 124749364 124749364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185906 S 2 1 0 "" HuRef esv2587880 8 124751244 124751829 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245336 S 1 1 0 "" NA18507 nsv512963 8 124751588 124751941 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625616 S 1 1 0 "" 1 nsv6372 8 124757941 124759367 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5125 S 9 1 0 "" NA19129 nsv831451 8 124780127 124954329 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447458,nssv1447457 M 95 1 1 ANXA13,FAM91A1,FER1L6 nsv6373 8 124810748 124855790 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8549 S 9 0 1 ANXA13,FAM91A1 NA12156 nsv507488 8 124901411 124907411 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623056,nssv617778,nssv620432,nssv621930 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv6374 8 124923338 124968590 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8550 S 9 0 1 FER1L6 NA12156 nsv523612 8 124924957 124926481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699408 S 2026 0 1 "" nsv395998 8 124937344 124937344 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414576 M 24 FER1L6 esv1213669 8 124937478 124937478 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937408 S 2 1 0 FER1L6 HuRef nsv510173 8 124959232 124965232 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618303 S 4 0 1 FER1L6 CHM nsv820240 8 124985801 124989707 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419588 S 2 0 1 FER1L6 AK1 esv2310236 8 124990985 124991425 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769526 S 1 0 1 FER1L6 NA18507 nsv435876 8 125076430 125083075 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466488 S 2 0 1 FER1L6,FER1L6-AS1 NA15510 nsv6375 8 125125724 125156439 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8551 S 9 0 1 FER1L6 NA12156 esv270982 8 125149057 125149399 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512542,essv2504258,essv2504528,essv2507828,essv2512731,essv2496130,essv2501382,essv2501816,essv2498120 M 157 9 0 Samples from several populations that are part of the HapMap project. FER1L6 NA18489,NA18505,NA18563,NA18564,NA18577,NA18603,NA19093,NA19239,NA19240 esv273651 8 125149058 125149423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578926,essv2579548 M 7 2 0 Samples from several populations that are part of the HapMap project. FER1L6 NA19239,NA19240 nsv510985 8 125158824 125189075 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622388 S 4 0 0 FER1L6 NA10860 nsv831452 8 125168889 125329107 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447459 S 95 1 0 FER1L6 esv23245 8 125170862 125179867 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19498 S 451 0 1 FER1L6 NA11993 esv1001834 8 125223258 125223258 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568799 S 3 1 0 "" HuRef esv1609725 8 125223259 125223259 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061277 S 2 1 0 "" HuRef nsv396418 8 125223259 125223259 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414996 M 24 "" nsv397298 8 125223260 125223260 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415876 M 24 "" nsv891429 8 125232400 125316118 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568292 S 6533 0 1 "" IS31228 nsv521356 8 125378236 125473944 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697967 S 2026 0 1 TMEM65 esv1624902 8 125384171 125384171 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630341 S 2 1 0 "" HuRef nsv516190 8 125392192 125412622 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666684,nssv677995,nssv678955,nssv691278 M 2026 0 4 TMEM65 nsv527751 8 125407397 125500211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704237 S 2026 0 1 TMEM65 nsv397554 8 125467348 125467405 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416132 M 24 "" nsv397732 8 125485456 125485604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416310 M 24 "" esv275091 8 125499941 125506796 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585636,essv2585477 M 1250 1 1 "" dgv7874n71 8 125500211 125567728 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891430,nsv891431,nsv891433,nsv891432 M 6533 21 0 RNF139,TRMT12 IS33712,MS11015,MS11715,MS12262,MS13219,MS15925,MS16632,MS17665,MS18747,MS18916,MS19068,MS20247,MS21201,MS21449,MS24083,MS24202,MS24995,MS25756,MS25768,MS25854,SP51140 nsv824727 8 125562159 125564179 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421859 S 31 0 1 RNF139 NA18997 esv2523354 8 125563855 125564716 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277418 S 1 1 0 RNF139 NA18507 esv1584427 8 125564550 125564550 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3927387 S 2 1 0 RNF139 HuRef esv274383 8 125587282 125587628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581306,essv2581050 M 7 2 0 Samples from several populations that are part of the HapMap project. TATDN1 NA12878,NA19240 nsv465801 8 125634509 125645862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541533 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MTSS1 HGDP00862 nsv525649 8 125634509 125669999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701803 S 2026 1 0 MTSS1 nsv465802 8 125639325 125645862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541534 S 1557 0 1 MTSS1 1780854205_A nsv528287 8 125639981 125640838 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704859 S 2026 1 0 MTSS1 esv275001 8 125653656 125662775 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585826,essv2585838 M 1250 1 1 MTSS1 esv5049 8 125668655 125672574 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27490 S 1 0 1 Single Asian sample YH MTSS1 YH nsv396843 8 125683630 125683630 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415421 M 24 MTSS1 esv23776 8 125697756 125698452 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18101 S 451 1 0 MTSS1 NA18508 nsv891434 8 125699836 126393614 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588668 S 6533 1 0 KIAA0196,LOC157381,MIR4662A,MIR4662B,MTSS1,NSMCE2,SQLE,ZNF572 IS38231 esv275526 8 125710145 125719834 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586184 S 1250 0 1 MTSS1 nsv507489 8 125780124 125786124 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623057 S 4 1 0 MTSS1 NA18994 nsv891435 8 125816555 125833542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557875 S 6533 0 1 "" MS22962 nsv517427 8 125818888 125835452 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664797,nssv693078,nssv663137,nssv668260,nssv652000,nssv660969 M 2026 6 0 "" esv275160 8 125824931 125830346 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585434,essv2585390 M 1250 1 1 "" esv259558 8 125836513 125836797 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394129,essv2393898,essv2393640,essv2394001,essv2394362 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv259772 8 125836519 125836809 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399068,essv2400338,essv2397534,essv2397275,essv2401083,essv2395660,essv2399218,essv2399562,essv2398968,essv2394663,essv2398133,essv2394569,essv2399530,essv2396457,essv2395920,essv2397028,essv2400469 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11881,NA11992,NA12878,NA12891,NA18501,NA18508,NA18570,NA18603,NA18870,NA18949,NA18965,NA19137,NA19138,NA19238,NA19239,NA19240 nsv397542 8 125836615 125836615 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416120 M 24 "" esv7514 8 125836664 125836743 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29955 S 1 1 0 "" SJK nsv528288 8 125907308 125916538 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704860 S 2026 1 0 "" esv271939 8 125959118 125959417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565741,essv2576080,essv2541061,essv2546587,essv2521047,essv2525894,essv2542581,essv2536691,essv2522737,essv2543828,essv2571010,essv2568141,essv2545529,essv2523108,essv2531861,essv2577268,essv2570674,essv2548333,essv2521460,essv2576653,essv2550835,essv2525226,essv2535176,essv2553984,essv2544356,essv2552015,essv2520581,essv2547418,essv2529373,essv2558273,essv2564510,essv2577917,essv2553637,essv2559419,essv2565419,essv2576356,essv2519985,essv2564129,essv2554848,essv2530795,essv2561784,essv2537229,essv2528331,essv2546782,essv2530481,essv2539949,essv2557448,essv2556957,essv2532048,essv2578837,essv2558723,essv2536856,essv2539191,essv2527355,essv2561538,essv2544901,essv2523617,essv2552943,essv2541309,essv2538273,essv2542933,essv2540328,essv2564819,essv2534630,essv2561147,essv2539913,essv2549446,essv2519743,essv2559801,essv2522233,essv2566022,essv2531125,essv2532700,essv2567673,essv2528729,essv2567619,essv2541630,essv2570187,essv2563731,essv2553153,essv2535780,essv2572275,essv2566886,essv2541882,essv2551040,essv2543535,essv2527879,essv2562425,essv2539402,essv2578241,essv2573006,essv2555228,essv2533480,essv2555629,essv2567023,essv2566672,essv2529937,essv2573803,essv2527516,essv2557730,essv2555852,essv2534199,essv2522601,essv2531575,essv2573387,essv2543277,essv2577153,essv2571894,essv2525803,essv2527001,essv2575714,essv2575023,essv2538812,essv2526560,essv2560701,essv2524307,essv2574803,essv2530200,essv2572833,essv2568815,essv2560315,essv2571390,essv2545851,essv2574191,essv2551501,essv2536150,essv2537843,essv2548939,essv2532941,essv2554475,essv2547930,essv2525045,essv2563200,essv2558077 M 157 134 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18486,NA18489,NA18499,NA18501,NA18505,NA18510,NA18516,NA18517,NA18519,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18853,NA18856,NA18858,NA18870,NA18907,NA18909,NA18912,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18970,NA18973,NA18980,NA19005,NA19099,NA19102,NA19108,NA19114,NA19116,NA19129,NA19138,NA19141,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272760 8 125959124 125959419 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581850,essv2582339,essv2583961 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv1258336 8 125959151 125959151 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3770277 S 2 1 0 "" HuRef nsv527372 8 125971596 125974839 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703804 S 2026 0 1 "" nsv398300 8 125998340 125998389 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416878 M 24 "" nsv510174 8 125999229 126005229 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618304,nssv622170 M 4 0 2 "" CHM,NA10860 esv268241 8 126093266 126093611 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557941,essv2571580,essv2546298,essv2545503,essv2531734,essv2521471,essv2535084,essv2552262,essv2564379,essv2578086,essv2519981,essv2537241,essv2528493,essv2530473,essv2540213,essv2557165,essv2532090,essv2550008,essv2539107,essv2569795,essv2527132,essv2561437,essv2523854,essv2542694,essv2540621,essv2524561,essv2561215,essv2519656,essv2521983,essv2566276,essv2531207,essv2567963,essv2563823,essv2553386,essv2558988,essv2542119,essv2543717,essv2578368,essv2555468,essv2533763,essv2567114,essv2566660,essv2530073,essv2573776,essv2526799,essv2529791,essv2575407,essv2575104,essv2538673,essv2574632,essv2572824,essv2549734,essv2571464,essv2545875,essv2574103,essv2537837,essv2549020,essv2533388,essv2563235 M 157 59 0 Samples from several populations that are part of the HapMap project. SQLE NA07000,NA07037,NA07051,NA10847,NA10851,NA11840,NA11881,NA12003,NA12006,NA12144,NA12249,NA12489,NA12751,NA12761,NA12815,NA12878,NA12891,NA18486,NA18489,NA18501,NA18505,NA18511,NA18519,NA18520,NA18522,NA18523,NA18537,NA18550,NA18552,NA18555,NA18562,NA18566,NA18571,NA18572,NA18573,NA18577,NA18603,NA18605,NA18638,NA18856,NA18870,NA18940,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA19005,NA19093,NA19099,NA19102,NA19108,NA19138,NA19143,NA19225,NA19238,NA19239,NA19240 esv274006 8 126093268 126093607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581851,essv2583000,essv2584085 M 7 3 0 Samples from several populations that are part of the HapMap project. SQLE NA12878,NA12892,NA19238 nsv465803 8 126137379 126201998 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541535 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA0196,NSMCE2 HGDP01418 nsv891436 8 126352948 126414258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550486 S 6533 1 0 NSMCE2 MS18431 esv2617834 8 126353252 126354802 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352112 S 1 0 1 NSMCE2 NA18507 esv1989590 8 126353881 126354552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885052 S 1 0 1 NSMCE2 NA18507 esv1108735 8 126405999 126406316 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857820 S 2 0 1 NSMCE2 HuRef esv7488 8 126406002 126406313 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29929 S 1 0 1 NSMCE2 SJK esv269553 8 126409084 126409169 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516766,essv2515885 M 157 2 0 Samples from several populations that are part of the HapMap project. NSMCE2 NA11881,NA12873 nsv509276 8 126441135 126530539 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619532 S 4 1 0 NSMCE2,TRIB1 NA10860 nsv396567 8 126472606 126479084 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415145 M 24 "" esv989195 8 126479692 126495999 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564123 S 3 0 0 "" HuRef nsv397442 8 126485461 126489787 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416020 M 24 "" esv1002169 8 126510979 126511788 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587201 S 3 0 1 TRIB1 HuRef nsv891437 8 126539999 126698510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541753 S 6533 1 0 "" MS15482 esv2141732 8 126549505 126549927 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719996 S 1 0 1 "" NA18507 esv995198 8 126554641 126555821 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586878 S 3 0 1 "" HuRef nsv397506 8 126559403 126559564 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416084 M 24 "" esv1224784 8 126559472 126559634 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672204 S 2 0 1 "" HuRef esv996204 8 126606075 126607740 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564564 S 3 1 0 "" HuRef nsv6377 8 126648802 126708435 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6249,nssv1768,nssv11196,nssv3685,nssv10639,nssv5126,nssv769 M 9 0 7 "" NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv38 8 126662647 126708435 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv38 S 1 0 1 "" NA15510 esv2635336 8 126663780 126671031 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307842 S 1 0 1 "" NA18507 dgv130n16 8 126663820 126670399 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435874,nsv436571 M 2 0 2 "" NA15510,NA18505 dgv189e180 8 126663837 126670318 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv993717,esv994135 M 3 0 1 "" HuRef esv2067958 8 126664100 126670523 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525710 S 1 0 1 "" NA18507 nsv512065 8 126664275 126670321 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624618 S 1 0 1 "" 1 esv3108 8 126664280 126670411 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25549 S 1 0 1 Single Asian sample YH "" YH nsv499096 8 126664303 126670325 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586097 S 9 0 1 "" dgv254n6 8 126664304 126670324 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396836,nsv396311 M 24 "" esv1636255 8 126664311 126670324 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3712992 S 2 0 1 "" HuRef esv7811 8 126664315 126670316 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30252 S 1 0 1 "" SJK esv2598561 8 126749880 126751341 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243713 S 1 0 1 "" NA18507 esv2268842 8 126750355 126751088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4627022 S 1 0 1 "" NA18507 esv2877 8 126750450 126750950 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25318 S 1 0 1 Single Asian sample YH "" YH esv1678997 8 126750571 126750902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932038 S 2 0 1 "" HuRef esv9627 8 126750574 126750902 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32068 S 1 0 1 "" SJK esv2307791 8 126771687 126772093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4812600 S 1 0 1 "" NA18507 nsv7419 8 126775889 129803035 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv770 S 9 0 0 FAM84B,LOC100130231,LOC727677,MIR1204,MIR1205,MIR1206,MIR1207,MIR1208,MYC,POU5F1B,PVT1 NA19240 nsv499795 8 126806817 129810537 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585571 S 9 0 0 FAM84B,LOC100130231,LOC727677,MIR1204,MIR1205,MIR1206,MIR1207,MIR1208,MYC,POU5F1B,PVT1 nsv6378 8 126878036 126889727 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8552 S 9 0 1 "" NA12156 nsv6379 8 126910333 126942210 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6251 S 9 1 0 "" NA12156 nsv831453 8 126928764 127123353 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447460 S 95 1 0 LOC100130231 esv2429994 8 126941580 126942691 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168789 S 1 1 0 "" NA18507 esv268247 8 126942085 126942378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562689,essv2562283,essv2575425,essv2560699,essv2572751 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18909,NA19099,NA19116,NA19143 nsv524724 8 126957771 126964458 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700711 S 2026 1 0 "" nsv395994 8 127017043 127024219 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414572 M 24 LOC100130231 nsv521643 8 127079224 127087997 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698263 S 2026 0 1 "" esv992210 8 127156110 127156110 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573226 S 3 1 0 "" HuRef esv1592051 8 127156111 127156111 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060279 S 2 1 0 "" HuRef nsv395935 8 127156111 127156111 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414513 M 24 "" esv6368 8 127173574 127174380 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28809 S 1 0 0 "" SJK nsv6380 8 127189631 127223027 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8553 S 9 1 0 "" NA12156 esv1000116 8 127257848 127263881 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565251 S 3 0 1 "" HuRef nsv435868 8 127259716 127266204 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466491 S 2 0 1 "" NA15510 esv2468654 8 127260404 127264618 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295435 S 1 0 1 "" NA18507 esv2595523 8 127260824 127264460 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388083 S 1 0 1 "" NA18507 esv2013142 8 127261203 127263934 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955221 S 1 0 1 "" NA18507 nsv512066 8 127261261 127263933 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624619 S 1 0 1 "" 1 esv6845 8 127261310 127263752 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29286 S 1 0 1 "" SJK esv995737 8 127261352 127263865 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587280 S 3 0 1 "" HuRef nsv824728 8 127261352 127263865 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438281,nssv1421860,nssv1429956,nssv1434540,nssv1440472,nssv1436795,nssv1435225,nssv1425118,nssv1438959,nssv1426830,nssv1431456,nssv1429212,nssv1435985,nssv1432201,nssv1423560,nssv1427624,nssv1428443,nssv1425900,nssv1441196,nssv1427652 M 31 0 20 "" AK10,AK12,AK14,AK18,AK2,AK20,AK4,AK6,AK8,NA18542,NA18547,NA18564,NA18566,NA18570,NA18942,NA18951,NA18968,NA18973,NA18997,NA18999 nsv821551 8 127261352 127264748 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420777 S 1 0 1 "" NA10851 nsv824729 8 127261352 127264748 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434119 S 31 1 0 "" NA18592 esv26450 8 127261409 127263721 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17511 S 451 17 7 "" NA06985,NA07037,NA07045,NA11894,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA18508,NA18517,NA18909,NA18916,NA19129,NA19147,NA19190,NA19225,NA19240 esv991733 8 127261906 127263525 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586278 S 3 0 1 "" HuRef nsv465804 8 127294920 127346508 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541536 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01290 nsv831454 8 127298427 127470974 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447461,nssv1447463 M 95 2 0 "" esv2545703 8 127317348 127318961 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340675 S 1 0 1 "" NA18507 esv2001290 8 127317967 127318624 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993498 S 1 0 1 "" NA18507 nsv442122 8 127346504 127348627 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv398140 8 127439443 127439443 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416718 M 24 "" nsv528870 8 127450528 127455376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705550 S 2026 0 1 "" nsv522894 8 127450879 127485749 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698552 S 2026 1 0 "" esv21489 8 127470393 127474076 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18538 S 451 0 6 "" NA18517,NA18858,NA18861,NA18909,NA19114,NA19190 nsv522099 8 127507365 127507948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694871 S 2026 0 1 "" nsv6381 8 127552518 127573873 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9758 S 9 1 0 "" NA18507 nsv521078 8 127739521 127744348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687603,nssv681321 M 2026 0 2 "" nsv891438 8 127739521 127914884 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560070 S 6533 1 0 "" MS24280 nsv831455 8 127750944 127855439 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447464 S 95 0 1 "" nsv515671 8 127867756 127892844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664326,nssv661888 M 2026 0 2 "" nsv397060 8 127906066 127906601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415638 M 24 "" nsv6382 8 127914628 127959731 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8554 S 9 0 1 "" NA12156 nsv831456 8 127930765 128094690 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447465 S 95 1 0 "" esv271584 8 127934624 127934923 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565806,essv2575884,essv2540983,essv2571756,essv2546568,essv2521223,essv2526206,essv2542517,essv2536519,essv2523012,essv2544003,essv2570875,essv2556507,essv2568288,essv2545479,essv2531934,essv2577430,essv2570624,essv2521528,essv2576682,essv2550642,essv2534971,essv2554042,essv2544480,essv2520319,essv2529094,essv2564757,essv2577765,essv2553694,essv2559516,essv2565251,essv2576379,essv2520116,essv2564185,essv2554931,essv2530731,essv2562131,essv2537385,essv2528341,essv2546864,essv2557544,essv2557252,essv2552421,essv2550059,essv2537117,essv2539100,essv2561645,essv2523828,essv2553001,essv2541365,essv2538200,essv2542704,essv2540323,essv2524433,essv2565113,essv2534805,essv2561079,essv2539582,essv2549145,essv2559875,essv2522164,essv2566229,essv2532923,essv2567677,essv2528847,essv2567607,essv2541473,essv2570086,essv2563907,essv2553207,essv2535803,essv2572357,essv2559150,essv2566885,essv2542070,essv2569061,essv2543657,essv2527994,essv2562309,essv2534162,essv2578213,essv2573098,essv2555441,essv2533572,essv2555642,essv2567275,essv2566495,essv2530049,essv2527663,essv2555798,essv2534452,essv2573578,essv2543264,essv2577068,essv2572005,essv2527021,essv2526480,essv2568649,essv2549773,essv2551566,essv2537717,essv2549057,essv2533354,essv2554497,essv2547632,essv2524839 M 157 106 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12716,NA12749,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18571,NA18572,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18907,NA18909,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18956,NA18959,NA18964,NA18965,NA18970,NA18973,NA19005,NA19114,NA19147,NA19225,NA19257 esv272440 8 127934627 127934924 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582001,essv2582642,essv2582796,essv2583956,essv2584420,essv2583465 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv507490 8 127977808 127983808 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617779,nssv623058,nssv621931,nssv620433 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv891439 8 127990466 128018828 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550487 S 6533 1 0 "" MS18431 nsv517839 8 128048306 128050431 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695244 S 2026 0 1 "" nsv397684 8 128079174 128079174 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416262 M 24 "" esv270088 8 128107270 128107609 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514692,essv2519225,essv2517426,essv2517098,essv2515502,essv2518633,essv2516120,essv2514272,essv2513667 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11840,NA11894,NA11918,NA11931,NA12249,NA12287,NA12873,NA12874 nsv6383 8 128122573 128156234 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8556 S 9 1 0 "" NA12156 nsv526759 8 128131764 128144872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703109 S 2026 0 1 "" nsv831457 8 128164553 128342032 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447466 S 95 1 0 "" esv269019 8 128188766 128188851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517169,essv2513960,essv2518404 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18970,NA19143,NA19240 esv273866 8 128188766 128188851 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581513 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv508525 8 128215527 128282481 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618842 S 4 0 1 "" NA10860 esv267804 8 128277198 128277552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498358,essv2508162,essv2496119,essv2507472,essv2493129 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18579,NA18603,NA18638,NA18951 esv2395554 8 128285338 128285672 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892363 S 1 0 1 "" NA18507 esv24818 8 128317932 128318937 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16118 S 451 0 2 "" NA18523,NA18858 esv2109813 8 128364227 128364666 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859909 S 1 0 1 "" NA18507 esv1217766 8 128398621 128398745 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013071 S 2 0 1 "" HuRef nsv891440 8 128399606 128446650 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550488 S 6533 1 0 "" MS18431 esv275357 8 128402379 128402733 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585149 S 1250 0 1 "" esv273844 8 128425809 128425985 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580159,essv2580279,essv2579860 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv271371 8 128425817 128425980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546188,essv2525998,essv2542489,essv2536440,essv2570935,essv2556540,essv2545641,essv2523287,essv2548604,essv2521856,essv2576890,essv2525440,essv2535379,essv2554086,essv2544404,essv2552189,essv2520432,essv2547388,essv2558596,essv2577862,essv2553619,essv2559474,essv2565291,essv2576341,essv2520049,essv2537583,essv2528214,essv2546721,essv2540140,essv2552484,essv2562637,essv2527029,essv2561472,essv2544691,essv2523768,essv2552909,essv2538320,essv2540553,essv2561002,essv2539821,essv2519910,essv2566096,essv2531002,essv2567544,essv2541600,essv2570317,essv2535612,essv2572398,essv2539501,essv2573066,essv2533547,essv2555757,essv2527625,essv2556038,essv2573593,essv2525820,essv2529445,essv2575641,essv2575192,essv2526408,essv2524296,essv2560330,essv2548050,essv2536097,essv2548736,essv2563520,essv2558190 M 157 67 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA10847,NA10851,NA11881,NA11918,NA11919,NA11920,NA11993,NA11994,NA12003,NA12004,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12763,NA12776,NA12812,NA12814,NA12815,NA12878,NA12891,NA12892,NA18489,NA18502,NA18507,NA18522,NA18523,NA18526,NA18537,NA18542,NA18547,NA18552,NA18562,NA18563,NA18566,NA18572,NA18573,NA18582,NA18592,NA18593,NA18608,NA18609,NA18912,NA18942,NA18944,NA18945,NA18952,NA18956,NA18964,NA18980,NA19093,NA19099,NA19102,NA19114,NA19129,NA19190,NA19210 esv1960296 8 128489248 128489771 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674739 S 1 0 1 "" NA18507 nsv511384 8 128513781 128519767 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625981 S 1 0 1 "" 1 esv1008397 8 128558115 128566817 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564507 S 3 0 1 LOC727677 HuRef nsv517444 8 128565688 128601055 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665108,nssv680133,nssv668192,nssv678361,nssv691039,nssv652036 M 2026 0 6 "" nsv512964 8 128602673 128603482 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625617 S 1 1 0 "" 1 nsv6384 8 128655545 128686642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10640 S 9 1 0 "" NA18956 nsv507491 8 128661699 128667699 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620434,nssv621932 M 4 2 0 "" NA10860,NA15510 nsv6385 8 128702699 128748146 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6252 S 9 0 1 "" NA12156 esv2752208 8 128714000 128977143 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984213,essv6984214,essv6987529 M 771 1 0 MIR1204,MYC,PVT1 BEC_806 nsv831458 8 128784030 128957168 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447469,nssv1447468,nssv1447467,nssv1447470 M 95 0 4 MIR1204,MYC,PVT1 nsv516713 8 128808953 128837336 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690823,nssv688896,nssv702593,nssv680986,nssv655252,nssv670329,nssv672834,nssv695912,nssv674107,nssv687604 M 2026 2 8 MYC nsv6386 8 128825076 128868512 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5127,nssv771 M 9 2 0 "" NA19129,NA19240 esv271405 8 128830644 128830729 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518124,essv2513773 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA19143 esv1251292 8 128931432 128931432 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4195088 S 2 1 0 PVT1 HuRef esv988546 8 128950209 128950218 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578494 S 3 1 0 PVT1 HuRef nsv397550 8 128950220 128950220 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416128 M 24 PVT1 esv1348770 8 128950222 128950222 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979462 S 2 1 0 PVT1 HuRef nsv396423 8 128950231 128950231 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415001 M 24 PVT1 nsv520172 8 129016957 129017198 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685828,nssv661340 M 2026 0 2 PVT1 nsv524801 8 129024607 129034734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700793 S 2026 0 1 PVT1 esv2538862 8 129079984 129080145 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265466 S 1 0 1 PVT1 NA18507 nsv523895 8 129119976 129126294 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699738 S 2026 0 1 PVT1 nsv6388 8 129159416 129195156 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8557 S 9 0 1 PVT1 NA12156 nsv528321 8 129207845 129220171 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704902 S 2026 0 1 "" nsv507492 8 129270321 129276321 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617780,nssv620435 M 4 2 0 "" CHM,NA15510 esv275073 8 129276450 129281510 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585234,essv2586161 M 1250 1 1 "" nsv520611 8 129298882 129299376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679656,nssv679933,nssv673230 M 2026 0 3 "" esv270426 8 129314088 129314425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516731,essv2519244,essv2517092,essv2518792,essv2515477,essv2515023,essv2514265,essv2517581,essv2517177,essv2518427 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA11931,NA12045,NA12249,NA12812,NA12874,NA12878,NA18970,NA19240 esv272527 8 129314088 129314425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581157 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv6389 8 129326060 129361327 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3687 S 9 1 0 "" NA12878 nsv6390 8 129461246 129493250 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10641 S 9 1 0 "" NA18956 nsv6391 8 129503741 129569709 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5128,nssv9918,nssv1769,nssv772,nssv10642,nssv9469,nssv3688,nssv6253 M 9 0 8 "" NA12156,NA12878,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv275241 8 129505505 129512088 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585205,essv2585182 M 1250 1 1 "" nsv508527 8 129527752 129553983 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622603,nssv620015,nssv618843,nssv617365 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv2635480 8 129533886 129541444 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220416 S 1 0 1 "" NA18507 esv2019272 8 129534158 129540655 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4934362 S 1 0 1 "" NA18507 nsv512067 8 129534167 129540465 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624620 S 1 0 1 "" 1 dgv190e180 8 129534175 129540586 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv999391,esv1007175 M 3 0 1 "" HuRef nsv465806 8 129534206 129693249 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541538 S 1557 0 1 "" 1780854206_A esv3520 8 129534313 129540527 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25961 S 1 0 1 Single Asian sample YH "" YH nsv499732 8 129534335 129540464 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586098 S 9 0 1 "" dgv255n6 8 129534336 129540463 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396171,nsv398468 M 24 "" esv9266 8 129534342 129540446 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31707 S 1 0 1 "" SJK esv1765110 8 129534350 129540463 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3738853 S 2 0 1 "" HuRef nsv436577 8 129534350 129540644 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466492 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv465807 8 129541703 129553356 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541539 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00734 nsv527164 8 129542194 129764191 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703558 S 2026 0 1 "" esv274913 8 129548738 129550883 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585249 S 1250 0 1 "" essv3176 8 129633607 129784954 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19012 esv28916 8 129685730 129686238 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15883 S 451 0 1 "" NA18916 nsv891441 8 129764191 129817168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599673 S 6533 0 1 "" IS41768 esv273031 8 129777161 129777451 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580332,essv2579880 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv271802 8 129777187 129777512 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557889,essv2565629,essv2571698,essv2526315,essv2536671,essv2523020,essv2570768,essv2550854,essv2544272,essv2520724,essv2547404,essv2529303,essv2564508,essv2559755,essv2565459,essv2576494,essv2564268,essv2528397,essv2546793,essv2544909,essv2552827,essv2577154,essv2572182,essv2548891,essv2532956,essv2563454 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA10847,NA10851,NA11829,NA11840,NA11918,NA11920,NA11931,NA11993,NA12155,NA12414,NA12716,NA12717,NA12749,NA12751,NA12776,NA12812,NA12814,NA12828,NA12891,NA12892,NA18526,NA18542,NA18970,NA18973 esv1219720 8 129777209 129777209 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4106209 S 2 1 0 "" HuRef nsv509277 8 129780555 129809847 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619533,nssv623545,nssv620913 M 4 3 0 "" NA10860,NA15510,NA18994 nsv6392 8 129785677 129818007 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5129 S 9 1 0 "" NA19129 nsv508528 8 129809847 129862747 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618844 S 4 0 1 "" NA10860 esv22071 8 129825984 129835558 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17577,esv16247 M 451 18 1 "" NA07045,NA12004,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18861,NA18916,NA19099,NA19114,NA19129,NA19147 nsv499338 8 129831701 129835211 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586099 S 9 0 1 "" esv988890 8 129832108 129835219 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586334 S 3 1 0 "" HuRef nsv820809 8 129832108 129835558 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420778 S 1 0 1 "" NA10851 esv2421643 8 129832317 129833267 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5143640,essv5056799,essv5152858,essv5122410,essv5084249,essv5049493,essv5050261,essv5061021,essv5129105,essv5019429,essv5153647,essv5085007,essv5067294,essv5134012,essv5138456,essv5048393,essv5158533,essv5136368,essv5021030,essv5029177,essv5161017,essv5142927,essv5042418,essv5104352,essv5073344,essv5101943,essv5105872,essv5040317,essv5040975,essv5050918,essv5057377,essv5054503,essv5002635,essv5085168,essv5156337,essv5155643,essv5160911,essv5151906,essv5034412,essv5036614,essv5123062,essv5102424,essv5059686,essv5037173,essv5103266,essv5131557,essv5142225,essv5036948,essv5060081,essv5093909,essv5041499,essv5106534,essv5160332,essv5058887,essv5005412,essv5016843,essv5074674,essv5097559,essv5152361,essv5088108,essv5102549,essv5141428,essv5086102,essv5146004,essv5065521,essv5021205,essv5014071,essv5021792,essv5101244,essv5083752,essv5123035,essv5115682,essv5110948,essv5009159,essv5029746,essv5084904,essv5022090,essv5154955,essv5152764,essv5003715,essv5136227,essv5105678,essv5003704,essv5037340,essv5103754,essv5070629,essv5136708,essv5060099,essv5121956,essv5051036,essv5026446,essv5120558,essv5017928,essv5126006,essv5026279,essv5090104,essv5101325,essv5111206,essv5039511,essv5150492,essv5071184,essv5083173,essv5074134,essv5074907,essv5098384,essv5047080,essv5064446,essv5058814,essv5141100,essv5037120,essv5068616,essv5035359,essv5087976,essv5066608,essv5047693,essv5064368,essv5114407,essv5130102,essv5110362,essv5030955,essv5086153,essv5081316,essv5078671,essv5128972,essv5154494,essv5113049,essv5160248,essv5143709,essv5005797,essv5003456,essv5096593,essv5159352,essv5012741,essv5014525,essv5035102,essv5022647,essv5123652,essv5034598,essv5076936,essv5079249,essv5044480,essv5032020,essv5010833,essv5008689,essv5126097,essv5032397,essv5153880,essv5072564,essv5070316,essv5093103,essv5018435,essv5099422,essv5084322,essv5055339,essv5010153,essv5153823,essv5135830,essv5118772,essv5028690,essv5064929,essv5117879,essv5063956,essv5019536,essv5030296,essv5090231,essv5074723,essv5097815,essv5073033,essv5139886,essv5146220,essv5046406,essv5157790,essv5019294,essv5020173,essv5156722,essv5116506,essv5011580,essv5050304,essv5054077,essv5085010,essv5140336,essv5012266,essv5002474,essv5038116,essv5004664,essv5043652,essv5099908,essv5034111,essv5040591,essv5098484,essv5064256,essv5090078,essv5027921,essv5144218,essv5022866,essv5049730,essv5089062,essv5095447,essv5041493,essv5133448,essv5110950,essv5064135,essv5158867,essv5156905,essv5015690,essv5011070,essv5027345,essv5019757,essv5091253,essv5018328,essv5049509,essv5052593,essv5054160,essv5115501,essv5053154,essv5012452,essv5014867,essv5057344,essv5047269,essv5058657,essv5054660,essv5110508,essv5159245,essv5010056,essv5107464,essv5103633,essv5039445,essv5002599,essv5011514,essv5053577,essv5051716,essv5157000,essv5072478,essv5127383,essv5089203,essv5085402,essv5159697,essv5043338,essv5156478,essv5057324,essv5123375,essv5045202,essv5082078,essv5132518,essv5037360,essv5015137,essv5122956,essv5126161,essv5025513,essv5044152,essv5089740,essv5031291,essv5036465,essv5072395,essv5115087,essv5140329,essv5019454,essv5144032,essv5057209,essv5115130,essv5031172,essv5027365,essv5034809,essv5108275,essv5054378,essv5142508,essv5066678,essv5123298,essv5043870,essv5039043,essv5072191,essv5153585,essv5119339,essv5106550,essv5106311,essv5057327,essv5080691,essv5148519,essv5098013,essv5075486,essv5147067,essv5098984,essv5147557,essv5108928,essv5115255,essv5082726,essv5155247,essv5093399,essv5012445,essv5038359,essv5116080,essv5063526,essv5029732,essv5033571,essv5101724,essv5105472,essv5138182,essv5042165,essv5065959,essv5139699,essv5012384,essv5012699,essv5071516,essv5033210,essv5101349,essv5139634,essv5126350,essv5011212,essv5115174,essv5061060,essv5085810,essv5041873,essv5121612,essv5070249,essv5129833,essv5097041,essv5154355,essv5116898,essv5149337,essv5078818,essv5104589,essv5132368,essv5156875,essv5038029,essv5076069,essv5055509,essv5017879,essv5142798,essv5147751,essv5055211,essv5090933,essv5143176,essv5145480,essv5052620,essv5098073,essv5146237,essv5135185,essv5068235,essv5009713,essv5005673,essv5138693,essv5066924,essv5051177,essv5083996,essv5036393,essv5143361,essv5079779,essv5030638,essv5128591,essv5159688,essv5136486,essv5103865,essv5130761,essv5042265,essv5143024,essv5053313,essv5093836,essv5077035,essv5011641,essv5107185,essv5088484,essv5138826,essv5153063,essv5131750,essv5114852,essv5071830,essv5141032,essv5058840,essv5121173,essv5105451,essv5033263,essv5145069,essv5102773,essv5069437,essv5121919,essv5095546,essv5010670,essv5070317,essv5046793,essv5082742,essv5156655,essv5100010,essv5099823,essv5077021,essv5052025,essv5134431,essv5039273,essv5049137,essv5062041,essv5052432,essv5007695,essv5156680,essv5155376,essv5046269,essv5089882,essv5096671,essv5153161,essv5017061,essv5146258,essv5036927,essv5009367,essv5091887,essv5033644,essv5060723,essv5158221,essv5146030,essv5025598,essv5132768,essv5076288,essv5040134,essv5109616,essv5134407,essv5035815,essv5044702,essv5043182,essv5119907,essv5069640,essv5150209,essv5069774,essv5068718,essv5139245,essv5053449,essv5042905,essv5047387,essv5085910,essv5099154,essv5106232,essv5136022,essv5153491,essv5077357,essv5127011,essv5063087,essv5151976,essv5038388,essv5077172,essv5044507,essv5092739,essv5130869,essv5150852,essv5007670,essv5087910,essv5129953,essv5093793,essv5157076,essv5078152,essv5087835,essv5082731,essv5153999,essv5086203,essv5086640,essv5128597,essv5085676,essv5148312,essv5050245,essv5147536,essv5022683,essv5119282,essv5056397,essv5047232,essv5079178,essv5097845,essv5027835,essv5098835,essv5088827,essv5130992,essv5048294,essv5024774,essv5064936,essv5005475,essv5092665,essv5132691,essv5067434,essv5106529,essv5020712,essv5052982,essv5074502,essv5134558,essv5147672,essv5035308,essv5143725,essv5139325,essv5024946,essv5114190,essv5026286,essv5061707,essv5159091,essv5159772,essv5135238,essv5130772,essv5112542,essv5155291,essv5038813,essv5077994,essv5059723,essv5140721,essv5053205,essv5117677,essv5125044,essv5144389,essv5114434,essv5082896,essv5137987,essv5058206,essv5020651,essv5098098,essv5013404,essv5045982,essv5136721,essv5035051,essv5102476,essv5014957,essv5089398,essv5098634,essv5003493,essv5075223,essv5021770,essv5154127,essv5010435,essv5018967,essv5148018,essv5094366,essv5137555,essv5073142,essv5108235,essv5114522,essv5020868,essv5134124,essv5131442,essv5082263,essv5031924,essv5121064,essv5132030,essv5151362,essv5088503,essv5151490,essv5028682,essv5044469,essv5040040,essv5094275,essv5031031,essv5108952,essv5006152,essv5041007,essv5123750,essv5138324,essv5009301,essv5120782,essv5047799,essv5075699,essv5084391,essv5074547,essv5082621,essv5079623,essv5112586,essv5042571,essv5024240,essv5073244,essv5100497,essv5152967,essv5030981,essv5158289,essv5017252,essv5063282,essv5114278,essv5105078,essv5156353,essv5137619,essv5076906,essv5075436,essv5128303,essv5019681,essv5106167,essv5149528,essv5154926,essv5104008,essv5019289,essv5086386,essv5081819,essv5039007,essv5107219,essv5084122,essv5028627,essv5099647,essv5082468,essv5156368,essv5055661,essv5010985,essv5026429,essv5015440,essv5018662,essv5069915,essv5011372,essv5112674,essv5002549,essv5085840,essv5022217,essv5115090,essv5082751,essv5137711,essv5035010,essv5068887,essv5139366,essv5141788,essv5157861,essv5053064,essv5091411,essv5132094,essv5019713,essv5110480,essv5103280,essv5048787,essv5046995,essv5075396,essv5142481,essv5009343,essv5121439,essv5049457,essv5149429,essv5058323,essv5106176,essv5102142,essv5033847,essv5013820,essv5101833,essv5081704,essv5027375,essv5117449,essv5087160,essv5031366,essv5131282,essv5066565,essv5007859,essv5111742,essv5063868,essv5067457,essv5154297,essv5007782,essv5003392,essv5030001,essv5066814,essv5106417,essv5008658,essv5116394,essv5015177,essv5055849,essv5105533,essv5048168,essv5149025,essv5070137,essv5020930,essv5040731,essv5079460,essv5015671,essv5108553,essv5031585,essv5097665,essv5038718,essv5018016,essv5153799,essv5145409,essv5086810,essv5114959,essv5096287,essv5041573,essv5018896,essv5049383,essv5066904,essv5022754,essv5109075,essv5013086,essv5067969,essv5062286,essv5035481,essv5153783,essv5076806,essv5096690,essv5151138,essv5127690,essv5158373,essv5083787,essv5156379,essv5016851,essv5009359,essv5116824,essv5050755,essv5009638,essv5133019,essv5083655 M 1184 0 688 "" NA06984,NA06985,NA06989,NA06991,NA06997,NA07022,NA07029,NA07031,NA07037,NA07045,NA07345,NA07346,NA07347,NA07349,NA10830,NA10839,NA10845,NA10846,NA10850,NA10852,NA10855,NA10859,NA10861,NA11831,NA11839,NA11843,NA11881,NA11891,NA11894,NA11930,NA11931,NA11992,NA11993,NA11995,NA12005,NA12006,NA12044,NA12045,NA12056,NA12145,NA12146,NA12154,NA12156,NA12234,NA12264,NA12273,NA12282,NA12283,NA12286,NA12335,NA12340,NA12348,NA12375,NA12383,NA12386,NA12399,NA12400,NA12546,NA12708,NA12716,NA12718,NA12740,NA12750,NA12752,NA12761,NA12766,NA12767,NA12776,NA12778,NA12801,NA12813,NA12817,NA12827,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12873,NA12875,NA12877,NA12889,NA12890,NA17962,NA17965,NA17966,NA17967,NA17968,NA17970,NA17972,NA17974,NA17975,NA17976,NA17979,NA17980,NA17982,NA17983,NA17986,NA17987,NA17988,NA17990,NA17993,NA17995,NA17997,NA17998,NA17999,NA18101,NA18105,NA18106,NA18107,NA18108,NA18109,NA18114,NA18117,NA18118,NA18120,NA18124,NA18125,NA18127,NA18128,NA18129,NA18132,NA18134,NA18135,NA18136,NA18139,NA18140,NA18143,NA18144,NA18147,NA18148,NA18149,NA18150,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18484,NA18488,NA18489,NA18499,NA18500,NA18501,NA18515,NA18516,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18557,NA18558,NA18559,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18639,NA18641,NA18642,NA18643,NA18647,NA18670,NA18674,NA18682,NA18685,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18853,NA18858,NA18859,NA18860,NA18871,NA18872,NA18873,NA18875,NA18909,NA18933,NA18934,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18961,NA18962,NA18963,NA18964,NA18965,NA18967,NA18969,NA18971,NA18972,NA18973,NA18974,NA18975,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18995,NA18997,NA18998,NA18999,NA19000,NA19005,NA19007,NA19009,NA19027,NA19028,NA19036,NA19038,NA19041,NA19044,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19072,NA19075,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19094,NA19095,NA19098,NA19101,NA19103,NA19108,NA19109,NA19117,NA19118,NA19121,NA19123,NA19130,NA19144,NA19146,NA19148,NA19151,NA19160,NA19161,NA19174,NA19178,NA19179,NA19180,NA19185,NA19190,NA19191,NA19193,NA19194,NA19198,NA19200,NA19201,NA19202,NA19203,NA19207,NA19208,NA19209,NA19211,NA19222,NA19224,NA19225,NA19226,NA19239,NA19256,NA19257,NA19307,NA19308,NA19309,NA19314,NA19315,NA19316,NA19319,NA19321,NA19327,NA19332,NA19346,NA19359,NA19360,NA19371,NA19372,NA19376,NA19377,NA19383,NA19384,NA19385,NA19390,NA19393,NA19398,NA19428,NA19430,NA19431,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19448,NA19451,NA19452,NA19456,NA19462,NA19463,NA19469,NA19470,NA19471,NA19474,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19658,NA19661,NA19662,NA19664,NA19675,NA19676,NA19678,NA19679,NA19682,NA19683,NA19685,NA19703,NA19708,NA19711,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19724,NA19726,NA19727,NA19747,NA19750,NA19755,NA19757,NA19759,NA19760,NA19761,NA19762,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19779,NA19780,NA19781,NA19782,NA19788,NA19789,NA19790,NA19901,NA19904,NA19909,NA19917,NA19918,NA19982,NA19983,NA20126,NA20277,NA20279,NA20287,NA20288,NA20290,NA20292,NA20297,NA20300,NA20301,NA20319,NA20332,NA20333,NA20340,NA20343,NA20347,NA20360,NA20363,NA20364,NA20502,NA20504,NA20510,NA20517,NA20518,NA20520,NA20521,NA20527,NA20529,NA20531,NA20534,NA20539,NA20540,NA20544,NA20581,NA20588,NA20754,NA20758,NA20759,NA20766,NA20768,NA20769,NA20774,NA20775,NA20778,NA20785,NA20786,NA20787,NA20790,NA20795,NA20796,NA20797,NA20803,NA20804,NA20807,NA20808,NA20810,NA20813,NA20819,NA20826,NA20845,NA20846,NA20847,NA20849,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20879,NA20882,NA20883,NA20884,NA20885,NA20888,NA20889,NA20892,NA20895,NA20897,NA20898,NA20899,NA20900,NA20903,NA20904,NA20906,NA20907,NA20908,NA20910,NA20911,NA21086,NA21089,NA21090,NA21091,NA21094,NA21097,NA21099,NA21100,NA21101,NA21103,NA21104,NA21106,NA21107,NA21108,NA21109,NA21112,NA21115,NA21116,NA21117,NA21118,NA21123,NA21125,NA21137,NA21141,NA21142,NA21144,NA21295,NA21297,NA21301,NA21302,NA21303,NA21308,NA21309,NA21311,NA21312,NA21314,NA21320,NA21333,NA21353,NA21356,NA21357,NA21360,NA21361,NA21363,NA21364,NA21367,NA21368,NA21370,NA21371,NA21379,NA21385,NA21386,NA21387,NA21389,NA21399,NA21400,NA21401,NA21405,NA21414,NA21415,NA21418,NA21420,NA21435,NA21436,NA21438,NA21439,NA21440,NA21447,NA21451,NA21457,NA21473,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21488,NA21490,NA21491,NA21494,NA21509,NA21513,NA21514,NA21517,NA21520,NA21522,NA21524,NA21528,NA21529,NA21580,NA21582,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21613,NA21615,NA21616,NA21619,NA21620,NA21632,NA21634,NA21647,NA21648,NA21682,NA21683,NA21686,NA21716,NA21719,NA21722,NA21738,NA21739,NA21740,NA21776,NA21784 nsv6393 8 129834071 129867872 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2800,nssv5130 M 9 2 0 "" NA18555,NA19129 esv2578193 8 129902708 129904129 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380973 S 1 0 1 "" NA18507 esv23187 8 129928510 129931559 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19677 S 451 0 1 "" NA12828 nsv517445 8 129929106 129950481 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681322,nssv668964,nssv652037,nssv682145,nssv671820,nssv682190,nssv674962 M 2026 0 7 "" esv1008036 8 129952012 129952012 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584922 S 3 1 0 "" HuRef esv1651153 8 129952082 129952082 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808693 S 2 1 0 "" HuRef nsv397845 8 129952083 129952083 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416423 M 24 "" esv2579560 8 130024324 130025381 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169948 S 1 1 0 "" NA18507 esv267869 8 130024911 130025263 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512541,essv2510578,essv2503029,essv2509713,essv2501117,essv2506022,essv2498507,essv2505919,essv2504853,essv2506975,essv2497553,essv2502163 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18507,NA18508,NA18516,NA18523,NA18858,NA18861,NA19099,NA19102,NA19147,NA19257 nsv437633 8 130083382 130091439 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467514 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 dgv7875n71 8 130085681 130199786 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891444,nsv891442 M 6533 0 2 "" IS40657,MS19303 nsv891443 8 130085681 130289928 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585131 S 6533 0 1 "" IS37293 esv25076 8 130210048 130214428 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14496 S 451 0 4 "" NA18505,NA18508,NA18858,NA18861 esv2421834 8 130211860 130213708 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5011525,essv5046385,essv5061590,essv5150019,essv5002039,essv5037394,essv5022681,essv5115498,essv5002064,essv5113858,essv5085320,essv5090533,essv5138743,essv5051417,essv5005778,essv5127937,essv5024561,essv5137846,essv5130626,essv5089413,essv5088784,essv5052900,essv5025286,essv5075074,essv5140200,essv5101836,essv5052744,essv5128587,essv5062834,essv5083526,essv5061219,essv5115606,essv5122041,essv5069824,essv5159169,essv5152567,essv5025619,essv5033335,essv5090398,essv5005611,essv5146198,essv5032829,essv5130941,essv5081518,essv5136079,essv5041820,essv5154633,essv5055668,essv5129918,essv5079612,essv5151759,essv5139825,essv5067485,essv5050115,essv5095129,essv5002469,essv5006994,essv5011063,essv5004195,essv5055776,essv5091335,essv5124676,essv5031898,essv5074092,essv5118231,essv5018540,essv5048762,essv5077466,essv5050625,essv5087143,essv5008346,essv5092750,essv5057513,essv5091114,essv5079043,essv5072525,essv5095181,essv5012860,essv5114568,essv5146150,essv5035553,essv5045847,essv5019063,essv5094140,essv5035307,essv5118787,essv5129179,essv5044230,essv5155833,essv5114899 M 1184 0 90 "" NA18485,NA18486,NA18487,NA18489,NA18505,NA18506,NA18508,NA18858,NA18859,NA18861,NA18867,NA18869,NA18873,NA18910,NA18924,NA18933,NA18935,NA19027,NA19036,NA19044,NA19046,NA19101,NA19103,NA19117,NA19119,NA19121,NA19128,NA19130,NA19131,NA19132,NA19137,NA19159,NA19160,NA19161,NA19171,NA19176,NA19179,NA19193,NA19194,NA19204,NA19206,NA19208,NA19213,NA19221,NA19222,NA19223,NA19226,NA19247,NA19249,NA19310,NA19311,NA19313,NA19332,NA19346,NA19375,NA19376,NA19377,NA19379,NA19393,NA19394,NA19436,NA19446,NA19455,NA19457,NA19463,NA19468,NA19474,NA19660,NA19835,NA20126,NA20128,NA20335,NA20342,NA20343,NA20357,NA20363,NA20364,NA20847,NA21403,NA21404,NA21454,NA21475,NA21477,NA21488,NA21517,NA21522,NA21528,NA21587,NA21682,NA21717 nsv442530 8 130211860 130213708 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515068 8 130212152 130213296 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627994 S 1414 0 1 "" nsv891445 8 130221291 130293903 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550489 S 6533 1 0 "" MS18431 nsv831460 8 130254862 130435399 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447471 S 95 1 0 LOC728724 esv268495 8 130339649 130339945 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515378,essv2517302 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA18970 nsv6394 8 130490684 130515217 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv773 S 9 0 1 "" NA19240 nsv499239 8 130504377 130512061 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586100 S 9 0 1 "" esv29447 8 130504378 130511840 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20800 S 451 0 2 "" NA18916,NA19147 nsv819398 8 130577823 130578819 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418845 S 2 0 1 "" AK1 nsv519611 8 130658858 130659199 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696950 S 2026 1 0 "" nsv523007 8 130658858 130659199 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698679 S 2026 0 1 "" nsv525691 8 130696737 130701112 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701850 S 2026 1 0 "" nsv891446 8 130725387 130779820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523656 S 6533 1 0 "" SP54122 esv1657737 8 130758947 130758947 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344666 S 2 1 0 "" HuRef nsv8387 8 130780241 130825836 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19947,nssv21630 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19132,NA19221 esv274379 8 130781311 130781696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580720 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv272111 8 130781362 130781691 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544187,essv2568378,essv2523127,essv2576729,essv2529109,essv2562607,essv2550126,essv2569692,essv2527386,essv2562955,essv2523542,essv2552829,essv2541214,essv2543021,essv2540331,essv2561272,essv2539842,essv2519924,essv2531172,essv2563770,essv2553268,essv2535623,essv2572472,essv2559175,essv2566722,essv2541890,essv2556235,essv2578225,essv2555303,essv2555737,essv2567257,essv2527724,essv2556067,essv2573596,essv2577067,essv2575061,essv2538777,essv2526430,essv2574786,essv2572712,essv2571347,essv2536093,essv2548826,essv2533142,essv2547906 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07347,NA11992,NA11995,NA12004,NA12154,NA12749,NA18507,NA18511,NA18520,NA18522,NA18532,NA18537,NA18542,NA18545,NA18550,NA18552,NA18562,NA18563,NA18566,NA18573,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18871,NA18940,NA18943,NA18945,NA18947,NA18952,NA18956,NA18964,NA18970,NA19102,NA19108,NA19114,NA19138,NA19143,NA19238 esv2649394 8 130783638 130784462 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233161 S 1 1 0 "" NA18507 nsv891447 8 130793738 130823901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550490 S 6533 1 0 "" MS18431 nsv510986 8 130806969 130836747 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618664 S 4 0 0 GSDMC CHM nsv509278 8 130813150 130836747 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619534 S 4 1 0 GSDMC NA10860 nsv6395 8 130816133 130854581 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1770,nssv774,nssv6254,nssv11197,nssv5131 M 9 5 0 GSDMC NA12156,NA15510,NA18555,NA19129,NA19240 nsv39 8 130824995 130854581 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv39 S 1 1 0 GSDMC NA15510 nsv522535 8 130873475 130913582 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705909 S 2026 1 0 "" nsv526686 8 130878155 130908314 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703019 S 2026 0 1 "" nsv524349 8 130937545 131201774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700257 S 2026 1 0 ASAP1,FAM49B esv268928 8 130976829 130977172 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514066 S 157 1 0 Samples from several populations that are part of the HapMap project. FAM49B NA12043 esv1565412 8 130976862 130976862 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320992 S 2 1 0 FAM49B HuRef nsv398375 8 130976863 130976863 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416953 M 24 FAM49B nsv6396 8 130984046 131003212 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8558 S 9 1 0 FAM49B NA12156 nsv521998 8 130990344 131001609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694767 S 2026 0 1 FAM49B nsv465808 8 131032441 131187840 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541540 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASAP1 HGDP01097 nsv398482 8 131050460 131051856 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417060 M 24 "" esv1773292 8 131088056 131088056 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752498 S 2 1 0 "" HuRef nsv397955 8 131088101 131088101 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416533 M 24 "" nsv465810 8 131108291 131400194 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541541 S 1557 1 0 ASAP1,ASAP1-IT1 1780862212_A esv271708 8 131110379 131110464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514561,essv2517784 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA12878 esv274145 8 131110379 131110464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581616 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv512965 8 131110570 131110952 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625618 S 1 1 0 "" 1 nsv512068 8 131130181 131132314 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624621 S 1 0 1 "" 1 nsv821613 8 131130247 131131807 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420779 S 1 0 1 "" NA10851 esv28594 8 131130357 131131807 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17655 S 451 0 16 "" NA11993,NA12004,NA12156,NA12287,NA18502,NA18505,NA18517,NA18523,NA18861,NA18907,NA18916,NA19099,NA19108,NA19129,NA19225,NA19240 esv997061 8 131130547 131131722 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586528 S 3 1 0 "" HuRef esv1520639 8 131130700 131130700 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160680 S 2 1 0 "" HuRef esv1155975 8 131130731 131130731 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3878613 S 2 1 0 "" HuRef esv1653158 8 131130990 131130990 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996842 S 2 1 0 "" HuRef esv1297642 8 131131052 131131321 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608497 S 2 0 1 "" HuRef nsv831461 8 131229001 131372082 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447474,nssv1447472 M 95 2 0 ASAP1 nsv507493 8 131348917 131354917 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623059 S 4 1 0 ASAP1 NA18994 esv26723 8 131439384 131440430 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11307 S 451 0 1 ASAP1 NA07045 esv2561115 8 131509521 131510073 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284587 S 1 1 0 "" NA18507 esv268975 8 131616863 131617122 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511417,essv2503859,essv2497265,essv2503664,essv2499579 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07357,NA11920,NA12761,NA18545 nsv891448 8 131737460 132037651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537553 S 6533 1 0 ADCY8 MS13241 esv270574 8 131745216 131745356 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494345,essv2494979,essv2505765,essv2504652,essv2506491,essv2498878,essv2496942,essv2501910,essv2498190 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18520,NA18861,NA19099,NA19108,NA19138,NA19190,NA19239,NA19240 esv273945 8 131745233 131745379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579060,essv2579566 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv396330 8 131751449 131751951 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414908 M 24 "" nsv831462 8 131773301 131964975 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447475 S 95 1 0 ADCY8 esv2019870 8 131860988 131861413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503750 S 1 0 1 "" NA18507 esv1011202 8 131913496 131922927 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564529 S 3 0 1 ADCY8 HuRef nsv512069 8 131919655 131921926 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624623 S 1 0 1 ADCY8 1 dgv1195n67 8 131919840 131921599 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824733,nsv824730 M 31 4 0 ADCY8 NA18526,NA18547,NA18582,NA18947 nsv821256 8 131919840 131922045 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420781 S 1 0 1 ADCY8 NA10851 nsv824732 8 131919840 131922045 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435226,nssv1423561,nssv1430711,nssv1439802,nssv1436797,nssv1437570,nssv1435987,nssv1428444,nssv1425901,nssv1427663 M 31 0 10 ADCY8 AK10,AK16,AK4,NA18537,NA18542,NA18566,NA18942,NA18949,NA18968,NA18999 nsv819677 8 131919870 131921697 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419334 S 2 1 0 ADCY8 AK1 esv6594 8 131919925 131921929 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29035 S 1 0 1 ADCY8 SJK esv1000595 8 131919931 131921919 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573164 S 3 0 1 ADCY8 HuRef nsv396197 8 131919933 131921920 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414775 M 24 ADCY8 esv25237 8 131919946 131922037 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19407 S 451 27 2 ADCY8 NA06985,NA07045,NA11894,NA11931,NA12004,NA12044,NA12156,NA12239,NA12489,NA12749,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv525692 8 131935521 131957444 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701851 S 2026 1 0 ADCY8 esv1235416 8 131936247 131936333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4054493 S 2 0 1 ADCY8 HuRef nsv512966 8 131978897 131979165 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625619 S 1 1 0 ADCY8 1 esv2655219 8 131979022 131979195 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305905 S 1 1 0 ADCY8 NA18507 nsv6397 8 132055376 132090399 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv776 S 9 1 0 ADCY8 NA19240 nsv891449 8 132080461 132197872 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533639 S 6533 0 1 ADCY8 MS11249 esv27284 8 132160755 132162111 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11409 S 451 0 1 "" NA18861 esv1254458 8 132176946 132176946 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713172 S 2 1 0 "" HuRef nsv6399 8 132191319 132236690 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6255 S 9 0 1 "" NA12156 esv271592 8 132208304 132208423 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2555145,essv2540048,essv2544956,essv2523940,essv2542952,essv2519537,essv2565950,essv2531067,essv2568029,essv2569897,essv2563744,essv2559402,essv2562308,essv2533807,essv2567155,essv2566379,essv2555859,essv2531634,essv2573719,essv2543231,essv2572036,essv2525594,essv2538792,essv2545181,essv2551497 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA12872,NA18489,NA18526,NA18537,NA18550,NA18566,NA18572,NA18573,NA18577,NA18593,NA18603,NA18638,NA18909,NA18944,NA18947,NA18948,NA18956,NA18961,NA18964,NA18965,NA18973,NA18980,NA19108,NA19172,NA19257 esv2479951 8 132236476 132238021 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276146 S 1 0 1 "" NA18507 esv2014976 8 132237272 132237982 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4815389 S 1 0 1 "" NA18507 esv3828 8 132237423 132237875 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26269 S 1 0 1 Single Asian sample YH "" YH esv1008678 8 132237465 132237777 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577130 S 3 0 1 "" HuRef esv7777 8 132237478 132237777 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30218 S 1 0 1 "" SJK esv1605250 8 132237483 132237796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839921 S 2 0 1 "" HuRef nsv398269 8 132237484 132237796 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416847 M 24 "" nsv891450 8 132255800 132330883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571668 S 6533 1 0 "" IS32770 nsv517761 8 132272071 132321621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671975,nssv660110,nssv653149 M 2026 0 3 "" nsv465811 8 132272071 132326126 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541542 S 1557 0 1 "" 1780862410_A esv2644779 8 132296750 132298457 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5239408 S 1 0 1 "" NA18507 esv987927 8 132311962 132312529 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578769 S 3 0 1 "" HuRef esv1531893 8 132311962 132312530 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4202657 S 2 0 1 "" HuRef nsv891451 8 132321621 132380661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550491 S 6533 1 0 "" MS18431 nsv6400 8 132321951 132356206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3689 S 9 1 0 "" NA12878 nsv528585 8 132324654 132326126 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705207 S 2026 0 1 "" nsv508529 8 132338494 132372444 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620016,nssv617366 M 4 0 2 "" CHM,NA15510 nsv435865 8 132344996 132351423 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466493 S 2 0 1 "" NA15510 esv999317 8 132346404 132352218 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564522 S 3 0 1 "" HuRef esv2126129 8 132346671 132349780 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4685375 S 1 0 1 "" NA18507 nsv512070 8 132346697 132351072 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624624 S 1 0 1 "" 1 esv2641825 8 132346774 132350939 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390563 S 1 0 1 "" NA18507 nsv523000 8 132373690 132398482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698672 S 2026 0 1 "" nsv521358 8 132373690 132421333 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697968 S 2026 0 1 "" esv271860 8 132447042 132447353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557994,essv2571562,essv2522713,essv2570968,essv2577524,essv2570731,essv2550781,essv2535303,essv2553969,essv2520723,essv2564438,essv2537562,essv2546767,essv2539665,essv2531228,essv2553248,essv2533086,essv2525186 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA10851,NA11840,NA11931,NA11993,NA12043,NA12044,NA12155,NA12249,NA12287,NA12716,NA12751,NA12878,NA12892,NA18563,NA18573,NA18605 esv274633 8 132447044 132447355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582176,essv2582580,essv2584244,essv2584768,essv2583366 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 nsv465812 8 132497693 132633840 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541543 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01271 nsv470236 8 132528131 132633632 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546764,nssv546762,nssv546763,nssv546761 M 443 4 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00688,HGDP01254,HGDP01271,HGDP01279 dgv897n27 8 132528131 132647856 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465814,nsv465815 M 1557 2 0 "" HGDP00688,HGDP01279 esv1687268 8 132635401 132635401 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816735 S 2 1 0 "" HuRef nsv397046 8 132635404 132635477 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415624 M 24 "" nsv891452 8 132690126 132990623 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535344 S 6533 1 0 EFR3A MS12157 nsv518107 8 132692128 132696340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695520 S 2026 0 1 "" esv271126 8 132741892 132742195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510134,essv2507758,essv2511847,essv2509680,essv2493639,essv2505241,essv2501317,essv2498962 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA12751,NA18499,NA18508,NA18517,NA18853,NA19093,NA19114 nsv526552 8 132746775 132777104 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702866 S 2026 1 0 "" nsv824734 8 132753137 132821036 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441201 S 31 0 1 "" NA18969 nsv891453 8 132761977 133492789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547410 S 6533 1 0 EFR3A,HHLA1,KCNQ3,OC90 MS17371 esv268404 8 132763968 132764304 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496598,essv2511833,essv2494208,essv2494750,essv2508932,essv2495631,essv2501256,essv2506417,essv2499200 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18499,NA18502,NA18519,NA18522,NA18916,NA19093,NA19108,NA19114 nsv891454 8 132805497 132938948 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550492 S 6533 1 0 "" MS18431 esv24816 8 132951398 132951908 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13928 S 451 0 1 "" NA12156 esv270449 8 133011875 133012215 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576122,essv2542239,essv2545371,essv2523371,essv2577274,essv2544438,essv2520657,essv2559698,essv2564172,essv2540115,essv2557461,essv2544698,essv2562911,essv2523867,essv2565047,essv2534816,essv2561072,essv2539811,essv2549204,essv2519626,essv2532868,essv2567550,essv2570073,essv2563924,essv2553377,essv2572545,essv2562219,essv2578234,essv2555704,essv2530161,essv2573973,essv2531408,essv2573461,essv2526701,essv2536122,essv2549056 M 157 36 0 Samples from several populations that are part of the HapMap project. EFR3A NA06986,NA07037,NA11830,NA11919,NA12003,NA12004,NA12043,NA12414,NA12716,NA12776,NA12828,NA18489,NA18499,NA18526,NA18532,NA18537,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18576,NA18582,NA18593,NA18603,NA18605,NA18609,NA18909,NA18940,NA18945,NA18949,NA18951,NA18961,NA18964,NA19114 nsv396604 8 133011907 133011907 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415182 M 24 EFR3A esv271320 8 133049161 133049357 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500421 S 157 1 0 Samples from several populations that are part of the HapMap project. EFR3A NA18537 esv2421701 8 133060267 133063758 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5098539,essv5012195,essv5082748,essv5065077,essv5086960,essv5102575,essv5119327,essv5116074,essv5128896,essv5027159,essv5031918,essv5092417,essv5121167,essv5013999,essv5023536,essv5018501,essv5091048,essv5127095,essv5152636,essv5072396,essv5113764,essv5002854,essv5068637,essv5146396,essv5050743,essv5043799,essv5128143,essv5139842,essv5152199,essv5091055,essv5066614,essv5008556,essv5080095,essv5058203,essv5108937,essv5008337,essv5062249,essv5052056,essv5157446,essv5002971,essv5063049,essv5131856,essv5130751,essv5083962,essv5040945,essv5090454,essv5039384,essv5111737,essv5019637,essv5062658,essv5035521,essv5149504,essv5117206,essv5056668,essv5100697,essv5017629,essv5065926,essv5053942,essv5038628,essv5143769,essv5069913,essv5127623,essv5151384,essv5139128,essv5131720,essv5055395,essv5049143,essv5100514,essv5101337,essv5147115,essv5098353,essv5143079,essv5077774,essv5051969,essv5093498,essv5122695,essv5117943,essv5088633 M 1184 0 78 EFR3A NA07037,NA07347,NA10854,NA11839,NA11840,NA11894,NA12707,NA12776,NA12818,NA12829,NA12830,NA18105,NA18485,NA18489,NA18503,NA18542,NA18670,NA18749,NA18960,NA18973,NA19063,NA19098,NA19116,NA19117,NA19121,NA19172,NA19439,NA19651,NA19659,NA19678,NA19680,NA19708,NA19714,NA19746,NA19747,NA19748,NA19755,NA19756,NA19757,NA19771,NA19909,NA19985,NA20277,NA20334,NA20335,NA20336,NA20581,NA20761,NA20801,NA20849,NA20851,NA20853,NA20856,NA20871,NA20872,NA20875,NA20876,NA20881,NA20884,NA20892,NA20898,NA20902,NA20903,NA21089,NA21099,NA21101,NA21102,NA21104,NA21105,NA21106,NA21107,NA21112,NA21116,NA21118,NA21125,NA21141,NA21142,NA21143 nsv442123 8 133060271 133063758 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 EFR3A esv33463 8 133069835 133070348 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98866 S 51 0 1 EFR3A 21606 nsv397361 8 133090304 133099603 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415939 M 24 EFR3A nsv517297 8 133129494 133130328 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681134,nssv672749,nssv657373,nssv664175,nssv666531,nssv669261,nssv652913,nssv664766,nssv673813,nssv655697,nssv657517,nssv683635,nssv671952,nssv673978,nssv686512,nssv676093,nssv677038,nssv653348,nssv690805,nssv672198,nssv654236,nssv663591,nssv672820,nssv669765,nssv668521,nssv658908,nssv684173,nssv667536,nssv659210,nssv679746 M 2026 0 30 OC90 nsv517992 8 133129494 133133678 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695405 S 2026 0 1 OC90 esv28393 8 133129707 133130842 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15561 S 451 0 5 OC90 NA18502,NA18508,NA18858,NA18916,NA19108 nsv6401 8 133161488 133194917 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8559 S 9 1 0 HHLA1 NA12156 nsv507494 8 133180038 133186038 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621933,nssv620436,nssv617781 M 4 3 0 HHLA1 CHM,NA10860,NA15510 esv275047 8 133272026 133277548 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586111,essv2585659 M 1250 1 1 KCNQ3 nsv891455 8 133277804 133417120 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544966 S 6533 1 0 KCNQ3 MS16611 nsv465817 8 133360679 133388980 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541547 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNQ3 HGDP01003 esv28543 8 133382549 133383395 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21021 S 451 1 0 KCNQ3 NA12156 nsv527996 8 133420085 133420302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704521 S 2026 0 1 KCNQ3 dgv2251e1 8 133470532 133650145 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19569,essv20127,essv7013,essv15201,essv5221,essv19206,essv23671,essv9798 M 271 0 0 HPYR1,KCNQ3 NA07345,NA10838,NA10863,NA12864,NA18611,NA18612,NA18863,NA19094 dgv2252e1 8 133470532 133754071 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3289,essv15804,essv14402,essv22886,essv13810,essv8787,essv692,essv1910,essv8487,essv22537,essv13633,essv11236,essv4994,essv7791,essv1247,essv17597,essv10807,essv20769,essv2279,essv22091,essv15142,essv308,essv24816,essv8745,essv5251,essv19604,essv5039,essv11804,essv15493,essv17793,essv7777,essv16167,essv3720,essv18605,essv11141,essv7080,essv12797,essv2337,essv22170,essv21803,essv5111,essv4833,essv23905,essv18371,essv3882,essv19651,essv13693,essv20584,essv9380,essv2089,essv845,essv10022,essv7366,essv2894,essv14560,essv20374,essv8954,essv23251,essv18859,essv7610,essv6349,essv14359,essv4057,essv7405,essv5490,essv13462,essv13091,esv353,essv10925,essv11519,essv24505,essv21182,essv13863,essv4276,essv10676,essv15580,essv7714,essv23329,essv22631,essv2810,essv8381,essv13012,essv24565,essv23828,essv23562,essv12621,essv18111,essv9404,essv15371,essv14110,essv14421,essv21137,essv6685,essv4413,essv23507,essv6958,essv10824,essv5803,essv18336,essv16781,essv17117,essv19194,essv16431,essv21971,essv17713,essv1776,essv12710,essv18318,essv22308,essv18761,essv17048,essv11845,essv20183,essv1428,essv22829,essv23146,essv16213,essv231,essv15429,essv20634,essv1184,essv13549,essv12448,essv476,essv22743,essv5164,essv16690,essv16043,essv10359,essv4735,essv7234,essv21428,essv6808,essv2219,essv14790,essv3765,essv19775,essv1106,essv23398,essv11774,essv16835,essv18972,essv2627,essv3119,essv3983 M 271 0 0 HPYR1,KCNQ3,LRRC6 NA06985,NA06993,NA07019,NA07029,NA07034,NA07056,NA07348,NA10830,NA10831,NA10835,NA10846,NA10854,NA10857,NA10860,NA11830,NA11832,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12146,NA12154,NA12155,NA12234,NA12239,NA12249,NA12264,NA12717,NA12750,NA12751,NA12752,NA12753,NA12760,NA12763,NA12802,NA12814,NA12815,NA12865,NA12872,NA12874,NA12891,NA12892,NA18500,NA18501,NA18504,NA18505,NA18507,NA18508,NA18516,NA18521,NA18523,NA18537,NA18540,NA18542,NA18545,NA18547,NA18558,NA18564,NA18566,NA18570,NA18573,NA18576,NA18577,NA18579,NA18582,NA18603,NA18608,NA18609,NA18620,NA18623,NA18624,NA18632,NA18633,NA18635,NA18637,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18861,NA18862,NA18871,NA18872,NA18914,NA18940,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18964,NA18966,NA18967,NA18969,NA18970,NA18972,NA18973,NA18975,NA18976,NA18978,NA18987,NA18994,NA18995,NA18997,NA19092,NA19099,NA19100,NA19119,NA19120,NA19127,NA19129,NA19137,NA19139,NA19142,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19192,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223 esv1004567 8 133474433 133508417 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564228 S 3 0 1 KCNQ3 HuRef dgv2253e1 8 133564090 133754071 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10431,essv3386 M 271 0 0 HPYR1,LRRC6 NA18515,NA18945 nsv428206 8 133564090 133754071 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451589 S 62 1 0 HPYR1,LRRC6 HGDP00474 esv8613 8 133745081 133745180 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31054 S 1 1 0 LRRC6 SJK esv2494945 8 133794180 133795103 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323570 S 1 1 0 TMEM71 NA18507 nsv831463 8 133804634 133987182 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447476 S 95 1 0 PHF20L1,TG,TMEM71 esv2267942 8 133827635 133828090 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4806204 S 1 0 1 TMEM71 NA18507 esv1274548 8 133827795 133827903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961746 S 2 0 1 TMEM71 HuRef dgv256n6 8 133827795 133827934 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv398410,nsv396661 M 24 TMEM71 nsv509279 8 133942005 134023264 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619535 S 4 1 0 TG NA10860 esv33367 8 133950488 133951058 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99524 S 51 0 1 TG 22335 esv32666 8 133966699 133969713 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99526 S 51 1 0 TG 22335 esv1530894 8 133989850 133989850 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819956 S 2 1 0 TG HuRef esv2622999 8 134014288 134015232 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207641 S 1 1 0 TG NA18507 esv32776 8 134054679 134054836 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98550,essv98015,essv99365 M 51 3 0 TG 22085,22259,22335 esv6449 8 134061057 134062262 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28890 S 1 0 0 TG SJK esv33561 8 134069889 134070082 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98064 S 51 0 1 TG 22259 esv32991 8 134102753 134103460 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99529 S 51 0 1 TG 22335 nsv6402 8 134125023 134154254 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10643 S 9 1 0 SLA,TG NA18956 nsv525105 8 134158836 134160329 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701164 S 2026 0 1 SLA,TG esv33548 8 134162735 134163857 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98079,essv99450 M 51 2 0 SLA,TG 22259,22335 nsv465818 8 134174503 134203855 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541548 S 1557 0 1 SLA,TG 1780862484_A nsv526697 8 134209728 134249059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703035 S 2026 0 1 TG nsv6403 8 134214347 134248154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3690 S 9 1 0 TG NA12878 nsv891456 8 134214694 134262256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585402 S 6533 0 1 TG IS37443 dgv2254e1 8 134236863 134249655 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11342,esv894 M 271 0 0 "" NA19128 nsv517333 8 134238349 134249059 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670183,nssv659762,nssv667369,nssv657306,nssv651756,nssv666227,nssv674263 M 2026 0 7 "" nsv512967 8 134294540 134295742 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625620 S 1 1 0 WISP1 1 esv1498080 8 134295474 134295474 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4007791 S 2 1 0 WISP1 HuRef esv1593495 8 134295497 134295497 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137606 S 2 1 0 WISP1 HuRef nsv519775 8 134347037 134354989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658465,nssv658520 M 2026 0 2 NDRG1 nsv831464 8 134351820 134544029 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447477 S 95 0 1 NDRG1,ST3GAL1 nsv515902 8 134392759 134396554 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665212,nssv702279,nssv698243,nssv684809 M 2026 2 2 "" esv27388 8 134397580 134399734 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11148 S 451 0 2 "" NA18907,NA18909 esv2113009 8 134398435 134399161 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4630733 S 1 0 1 "" NA18507 nsv396953 8 134398627 134398948 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415531 M 24 "" esv1105748 8 134398642 134398964 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060872 S 2 0 1 "" HuRef esv29081 8 134432831 134433321 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19591 S 451 1 0 "" NA19099 nsv516732 8 134455519 134463459 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670499,nssv692015,nssv655374 M 2026 0 3 "" nsv524031 8 134455519 134497425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699894 S 2026 0 1 "" nsv524719 8 134455881 134481279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700704 S 2026 0 1 "" nsv6404 8 134510048 134543698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8560 S 9 1 0 ST3GAL1 NA12156 nsv516099 8 134533858 134534241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683232,nssv668765,nssv666186 M 2026 0 3 "" nsv6405 8 134553939 134598817 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8561 S 9 0 1 ST3GAL1 NA12156 nsv891457 8 134564796 134588447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589483 S 6533 0 1 ST3GAL1 IS38371 nsv528683 8 134569429 134569991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705325 S 2026 0 1 ST3GAL1 nsv520436 8 134696137 134713751 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671382,nssv671634,nssv701865 M 2026 0 3 "" nsv831465 8 134707520 134896260 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447478,nssv1447480,nssv1447479 M 95 0 3 "" esv2654480 8 134715363 134715444 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215183 S 1 0 1 "" NA18507 nsv398161 8 134724455 134724455 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416739 M 24 "" nsv465819 8 134734221 134746071 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541549 S 1557 0 1 "" 1798860371_A nsv520662 8 134750738 134755247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697543 S 2026 0 1 "" nsv523219 8 134758757 134896018 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698941 S 2026 1 0 "" nsv508530 8 134778780 134801806 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617367 S 4 0 1 "" CHM nsv397011 8 134934593 134934593 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415589 M 24 "" nsv891458 8 134954645 134994907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574548 S 6533 0 1 "" IS33596 nsv6406 8 134955522 135000202 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8562 S 9 0 1 "" NA12156 nsv521660 8 135017247 135022811 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698277 S 2026 0 1 "" esv2605888 8 135033728 135035215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306704 S 1 0 1 "" NA18507 esv2056147 8 135034175 135034629 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4562561 S 1 0 1 "" NA18507 nsv512968 8 135041009 135041515 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625621 S 1 1 0 "" 1 nsv437634 8 135069594 135074477 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467515 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19205 esv27672 8 135091747 135092298 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10087 S 451 0 1 "" NA19099 nsv8388 8 135127707 135138000 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16826,nssv16854 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18975,NA19007 nsv819503 8 135128590 135137337 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418552 S 2 0 1 "" AK1 dgv1196n67 8 135128600 135137307 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824736,nsv824735 M 31 0 8 "" AK10,AK18,AK2,NA18542,NA18566,NA18947,NA18949,NA18969 esv24850 8 135128801 135137228 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15584 S 451 0 1 "" NA19114 nsv465820 8 135129150 135135129 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541550 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00758 esv2421978 8 135129150 135135890 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022450,essv5138127,essv5089475,essv5063917,essv5008609,essv5147447,essv5100533,essv5054075,essv5065620,essv5148167,essv5008222,essv5091851,essv5137352,essv5071720,essv5053343,essv5152020,essv5102362,essv5078510,essv5152378,essv5013723,essv5066606,essv5116885,essv5017584,essv5003369,essv5106910,essv5007593,essv5029241,essv5006585,essv5060777,essv5155169,essv5150896,essv5116049,essv5055473,essv5111921,essv5144939,essv5012248,essv5029377,essv5100512,essv5086726,essv5027854,essv5075058,essv5113024,essv5046618,essv5112174,essv5150089,essv5068031,essv5143103,essv5076359,essv5004930,essv5132051,essv5119325,essv5118923,essv5153460,essv5069276,essv5053122,essv5008459,essv5070055,essv5108342,essv5127344,essv5031571,essv5035749,essv5026133,essv5146714,essv5146973,essv5019777,essv5106958,essv5094938,essv5068896,essv5010488,essv5101204,essv5102660,essv5023370,essv5096218,essv5111297,essv5029221,essv5041227,essv5139499,essv5045540,essv5107781,essv5064860,essv5138929,essv5052681,essv5138905,essv5075464,essv5152359,essv5094468,essv5035956,essv5049972,essv5111850,essv5047815,essv5018268,essv5153059,essv5116086,essv5134031,essv5127069,essv5073782,essv5015563,essv5076750,essv5048484 M 1184 0 99 "" NA17965,NA17967,NA17980,NA17982,NA17988,NA17996,NA17997,NA18118,NA18144,NA18147,NA18150,NA18155,NA18534,NA18542,NA18555,NA18558,NA18562,NA18566,NA18595,NA18613,NA18620,NA18635,NA18643,NA18682,NA18685,NA18704,NA18945,NA18947,NA18948,NA18949,NA18959,NA18963,NA18969,NA18975,NA18977,NA18991,NA19005,NA19007,NA19057,NA19058,NA19059,NA19063,NA19065,NA19072,NA19075,NA19076,NA19077,NA19080,NA19084,NA19087,NA19114,NA19115,NA19146,NA19350,NA19377,NA19383,NA19398,NA19435,NA19452,NA19467,NA19670,NA20322,NA20341,NA21119,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21316,NA21317,NA21318,NA21344,NA21352,NA21366,NA21368,NA21378,NA21381,NA21383,NA21390,NA21414,NA21435,NA21448,NA21491,NA21493,NA21494,NA21509,NA21517,NA21519,NA21527,NA21577,NA21582,NA21583,NA21616,NA21619,NA21620,NA21733,NA21784 nsv515069 8 135130432 135135712 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627995 S 1414 0 1 "" nsv442531 8 135130437 135135890 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv2255e1 8 135130463 135131756 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1045,essv7256,esv890,essv609,essv3318,essv3614 M 271 0 0 "" NA18635,NA18947,NA18948,NA18969,NA18975 nsv6407 8 135133365 135188617 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3691,nssv11198,nssv777,nssv5134,nssv6256 M 9 0 5 "" NA12156,NA12878,NA15510,NA19129,NA19240 nsv508531 8 135133881 135158832 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620017 S 4 0 1 "" NA15510 nsv517468 8 135133983 135135129 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691406,nssv688624,nssv674323,nssv670184,nssv661701,nssv652111,nssv686077 M 2026 0 7 "" nsv40 8 135141298 135188617 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv40 S 1 0 1 "" NA15510 esv2432241 8 135151036 135159241 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307717 S 1 0 1 "" NA18507 nsv891459 8 135151299 135412601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503857 S 6533 1 0 "" SP52117 dgv131n16 8 135151489 135159136 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435866,nsv436591 M 2 0 2 "" NA15510,NA18505 nsv512071 8 135151556 135158192 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624625 S 1 0 1 "" 1 esv2547981 8 135151677 135159114 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244066 S 1 0 1 "" NA18507 esv2385769 8 135151894 135158404 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4604899 S 1 0 1 "" NA18507 nsv499093 8 135152095 135158214 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586101 S 9 0 1 "" nsv396633 8 135152112 135158213 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415211 M 24 "" nsv831466 8 135154542 135319239 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447481,nssv1447482 M 95 2 0 "" dgv2256e1 8 135212786 135244049 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9275,essv12101,esv1160 M 271 0 0 "" NA19099,NA19137 esv1008910 8 135226097 135226200 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574312 S 3 0 1 "" HuRef esv1113378 8 135226125 135226227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886071 S 2 0 1 "" HuRef nsv397783 8 135321075 135323008 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416361 M 24 "" nsv398370 8 135346528 135346528 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416948 M 24 "" nsv824737 8 135347743 135348216 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427674 S 31 0 1 "" NA18968 nsv831467 8 135383624 135520671 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447483 S 95 1 0 "" esv9157 8 135411737 135411830 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31598 S 1 1 0 "" SJK esv1020559 8 135521006 135521078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935684 S 2 0 1 "" HuRef nsv396547 8 135521053 135521124 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415125 M 24 "" esv992003 8 135536549 135536644 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566039 S 3 0 1 "" HuRef esv1635584 8 135536558 135536654 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935092 S 2 0 1 "" HuRef esv25822 8 135543238 135570867 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19515,esv14488 M 451 6 1 ZFAT NA07037,NA07045,NA12156,NA12239,NA18858,NA18916,NA19129 esv2502824 8 135545410 135547957 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350564 S 1 0 1 "" NA18507 esv1193218 8 135545934 135546552 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150457 S 2 0 1 "" HuRef nsv512072 8 135545957 135548490 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624626 S 1 0 1 "" 1 esv2201915 8 135546040 135547405 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755653 S 1 0 1 "" NA18507 esv25625 8 135578810 135581105 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16784 S 451 0 3 ZFAT NA11995,NA12414,NA15510 nsv820465 8 135578810 135581105 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420782 S 1 0 1 ZFAT NA10851 esv1297525 8 135579710 135579828 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640650 S 2 0 1 ZFAT HuRef nsv891460 8 135686507 135861295 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523000 S 6533 1 0 ZFAT SP53550 dgv7876n71 8 135708835 135813642 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891465,nsv891461 M 6533 2 0 ZFAT MS20813,SP54138 dgv7877n71 8 135708835 135857073 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891468,nsv891462,nsv891463,nsv891467,nsv891466 M 6533 5 0 ZFAT MS17697,SP52175,SP52255,SP54326,SP55041 nsv891464 8 135719253 135767133 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548162 S 6533 1 0 ZFAT MS17718 nsv525439 8 135726935 135734300 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701567 S 2026 0 1 ZFAT nsv891469 8 135738992 135800760 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525711 S 6533 1 0 ZFAT SP56780 nsv397081 8 135739776 135748917 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415659 M 24 ZFAT nsv891470 8 135811733 135842789 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525712 S 6533 1 0 "" SP56780 dgv7878n71 8 135811733 135861295 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891473,nsv891471,nsv891472 M 6533 3 0 "" MS17718,SP53493,SP54138 esv8944 8 135821466 135821548 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31385 S 1 1 0 "" SJK nsv891474 8 135857073 135906312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554468 S 6533 1 0 MIR30B,MIR30D MS20813 esv34017 8 135901528 136017610 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv25376 8 135902733 135906547 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18097 S 451 0 1 "" NA18909 esv260031 8 135948984 135949317 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395767,essv2397577,essv2396708,essv2398278,essv2399742,essv2397303,essv2401049,essv2396958,essv2395618,essv2399330,essv2396119,essv2400691,essv2395504,essv2395046,essv2399008,essv2400065,essv2394639,essv2397506,essv2400794,essv2396981,essv2398729,essv2401014,essv2399783,essv2399513,essv2396375,essv2399665,essv2395945,essv2394503 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12004,NA12044,NA12750,NA12763,NA12828,NA12878,NA12891,NA12892,NA18501,NA18522,NA18523,NA18542,NA18563,NA18571,NA18605,NA18861,NA18870,NA18947,NA18952,NA18973,NA19005,NA19099,NA19129,NA19137,NA19138,NA19210,NA19238,NA19257 esv259665 8 135948988 135949308 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394234,essv2393932,essv2393792,essv2393634 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 nsv397734 8 135949093 135949093 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416312 M 24 "" esv993199 8 135963712 135968234 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586432 S 3 1 0 "" HuRef nsv6408 8 135980355 135984862 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2801 S 9 1 0 "" NA18555 esv2547438 8 136011423 136012946 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258069 S 1 0 1 "" NA18507 esv2268330 8 136011745 136012301 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4826028 S 1 0 1 "" NA18507 esv993642 8 136011985 136012054 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567622 S 3 0 1 "" HuRef esv1552101 8 136012146 136012216 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964539 S 2 0 1 "" HuRef esv2402949 8 136129198 136129616 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4863939 S 1 0 1 "" NA18507 nsv831468 8 136207383 136388703 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447485 S 95 1 0 LOC286094 nsv507495 8 136253732 136259732 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623060,nssv620437 M 4 2 0 "" NA15510,NA18994 esv990527 8 136272222 136272222 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569907 S 3 1 0 "" HuRef esv1309742 8 136272223 136272223 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031967 S 2 1 0 "" HuRef nsv396858 8 136272224 136272224 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415436 M 24 "" nsv6411 8 136279793 136324607 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8563 S 9 0 1 LOC286094 NA12156 esv29439 8 136287600 136289774 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17444 S 451 0 5 "" NA18502,NA18916,NA19108,NA19114,NA19190 nsv528589 8 136450777 136474066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705214 S 2026 0 1 "" esv2169343 8 136462261 136462676 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691430 S 1 0 1 "" NA18507 esv29654 8 136538537 136539550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14626 S 451 0 1 KHDRBS3 NA07045 nsv6412 8 136593241 136594930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8564 S 9 1 0 KHDRBS3 NA12156 esv2389682 8 136616525 136616991 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4731539 S 1 0 1 KHDRBS3 NA18507 nsv524132 8 136627865 136677351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700010 S 2026 0 1 KHDRBS3 esv29678 8 136690687 136696764 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13027 S 451 0 2 KHDRBS3 NA19108,NA19190 nsv831469 8 136691972 136890023 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447486 S 95 1 0 KHDRBS3 esv2421926 8 136692574 136694147 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5121260,essv5142962,essv5157162,essv5039504,essv5123754,essv5017602,essv5014843,essv5138725,essv5157350,essv5006423,essv5090364,essv5131627,essv5086522,essv5127958,essv5114716,essv5105381,essv5042583,essv5016354,essv5053527,essv5051961,essv5079899,essv5111963,essv5041298,essv5153040,essv5028148,essv5070964,essv5091160,essv5042826,essv5093754,essv5047036,essv5096329,essv5124636,essv5009621,essv5076932,essv5073798,essv5054992 M 1184 0 36 KHDRBS3 NA18868,NA19062,NA19108,NA19109,NA19130,NA19132,NA19153,NA19175,NA19189,NA19190,NA19191,NA19201,NA19321,NA19324,NA19372,NA19381,NA19382,NA19452,NA19703,NA19705,NA19713,NA19921,NA19983,NA20129,NA20277,NA20279,NA20295,NA20342,NA21297,NA21368,NA21486,NA21487,NA21573,NA21577,NA21600,NA21723 nsv442124 8 136692574 136694147 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KHDRBS3 nsv515070 8 136693296 136694032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627996 S 1414 0 1 KHDRBS3 esv7328 8 136704866 136704957 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29769 S 1 1 0 KHDRBS3 SJK nsv526020 8 136840051 136841906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702250 S 2026 0 1 "" esv2031973 8 136916448 136916896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583444 S 1 0 1 "" NA18507 nsv397378 8 136916614 136916729 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415956 M 24 "" esv1000274 8 136981990 136991730 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563875 S 3 0 1 "" HuRef nsv831471 8 137015734 137195022 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447487 S 95 1 0 "" nsv891475 8 137090525 137122406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598464 S 6533 0 1 "" IS41263 nsv515957 8 137092988 137095742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684583,nssv665466,nssv701780 M 2026 0 3 "" esv1164343 8 137108337 137108337 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890325 S 2 1 0 "" HuRef nsv6413 8 137114991 137147092 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5135 S 9 1 0 "" NA19129 esv268263 8 137131349 137131434 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516690,essv2517094,essv2514883,essv2515768,essv2516118,essv2514305 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11931,NA12234,NA12815,NA12873,NA12874 nsv522308 8 137215600 137355370 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695088 S 2026 1 0 "" nsv511398 8 137225632 137234178 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626005 S 1 0 1 "" 1 nsv6414 8 137225929 137244164 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3692,nssv4615 M 9 0 2 "" NA12878,NA19129 esv994126 8 137228569 137233587 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565293 S 3 0 1 "" HuRef esv2636423 8 137228740 137233652 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5382794 S 1 0 1 "" NA18507 nsv819992 8 137228828 137233155 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419628 S 2 1 0 "" AK1 esv2090848 8 137229204 137233267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644814 S 1 0 1 "" NA18507 nsv512073 8 137229261 137233100 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624627 S 1 0 1 "" 1 esv5994 8 137229371 137233108 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28435 S 1 0 1 "" SJK esv28488 8 137229374 137233056 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15682 S 451 11 10 "" NA07045,NA11894,NA11931,NA12006,NA12044,NA12287,NA12489,NA12749,NA12828,NA12878,NA15510,NA18505,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19225,NA19240 nsv820972 8 137229374 137233133 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420783 S 1 0 1 "" NA10851 nsv824738 8 137229374 137233770 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441203,nssv1421861,nssv1430712,nssv1440473,nssv1429214,nssv1427625,nssv1422736,nssv1436799,nssv1425902 M 31 0 9 "" AK12,AK16,AK4,AK8,NA18542,NA18552,NA18564,NA18969,NA18997 esv2436820 8 137229458 137233476 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5264255 S 1 0 1 "" NA18507 nsv824739 8 137230518 137233125 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438960 S 31 0 1 "" NA18973 nsv515071 8 137230720 137232960 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627997 S 1414 0 1 "" nsv891476 8 137280441 137497587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525624 S 6533 0 1 "" SP56733 nsv465822 8 137362343 137390988 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541551 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00559 nsv433497 8 137370623 137381178 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463378 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv2309391 8 137423709 137424123 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545410 S 1 0 1 "" NA18507 nsv6415 8 137454497 137467103 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9759 S 9 1 0 "" NA18507 nsv891477 8 137534204 137595981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594689 S 6533 1 0 "" IS39996 dgv7879n71 8 137539551 137800363 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891481,nsv891478 M 6533 2 0 "" IS32992,IS39996 dgv7880n71 8 137562543 137603313 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891479,nsv891480 M 6533 0 2 "" SP52282,SP55460 dgv473n21 8 137578654 137579685 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522867,nsv520473 M 2026 0 2 "" dgv2257e1 8 137585971 138040412 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18395,essv23001,essv19781,essv20165,esv838,essv18753 M 271 0 0 "" NA07357,NA10835,NA11832,NA12249,NA12874 dgv31e196 8 137608702 137817175 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422411,esv2422462 M 181 0 2 "" ND01688,ND01885 esv270167 8 137629339 137629695 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509691,essv2506298,essv2499622 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18523,NA19225 nsv831472 8 137671007 137841775 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447488 S 95 0 1 "" nsv6416 8 137694669 137724756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10644 S 9 1 0 "" NA18956 esv267957 8 137709336 137709421 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519126 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 esv2580910 8 137709625 137711074 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353891 S 1 0 1 "" NA18507 dgv252e55 8 137726974 137980282 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752221,esv2752216,esv2752219,esv2752218,esv2752217,esv2752233,esv2752234,esv2752232,esv34538,esv34324,esv2752240,esv2752211,esv2752212,esv2752213,esv2752214,esv2752215,esv2752220,esv2752222,esv2752223,esv2752224,esv2752225,esv2752226,esv2752227,esv2752228,esv2752229,esv2752230,esv2752231,esv2752235,esv2752236,esv2752239,esv34379,esv34900,esv35104,esv35111,esv2752237,esv2752238 M 771 0 36 "" BEC_175,BEC_177,BEC_333,BEC_353,BEC_362,BEC_402,BEC_405,BEC_406,BEC_408,BEC_516,BEC_543,BEC_565,BEC_575,BEC_603,BEC_625,BEC_644,BEC_669,BEC_735,BEC_737,BEC_91,NA07357,NA10835,NA11832,NA12056,NA12249,NA12874,SPC_129,SPC_133,SPC_156,SPC_163,SPC_167,SPC_173,SPC_194,SPC_3,SPC_36,SPC_52 nsv515708 8 137732671 137932941 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684000,nssv654975,nssv686058,nssv691740,nssv658957,nssv659952,nssv660043,nssv674812,nssv673521,nssv666140,nssv662613,nssv657730,nssv655926,nssv659062,nssv690855,nssv668147,nssv672558,nssv663365,nssv672462,nssv682214,nssv666933,nssv664420,nssv654716,nssv658312,nssv667698,nssv687375,nssv652009,nssv685547,nssv693320,nssv688876,nssv679310,nssv687993,nssv687786,nssv662336,nssv673835,nssv695269,nssv679553,nssv684215,nssv683353,nssv663746,nssv677181,nssv670145,nssv678497,nssv655437,nssv670869,nssv678261,nssv654088,nssv656315,nssv688350,nssv660221,nssv691342,nssv667872,nssv674397,nssv689807,nssv687568,nssv688605,nssv689560,nssv665508,nssv684308,nssv674861,nssv691562,nssv691576,nssv669289,nssv673626,nssv679934,nssv665600,nssv682040,nssv656033,nssv683937,nssv676094,nssv655197,nssv657854,nssv667481,nssv677563,nssv667041,nssv669416,nssv669459,nssv654555,nssv667609,nssv666771,nssv659044,nssv689160,nssv658568,nssv670132,nssv683731,nssv704893,nssv665846 M 2026 0 87 "" dgv7881n71 8 137742134 137974247 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891492,nsv891487,nsv891493,nsv891494,nsv891485,nsv891486,nsv891482,nsv891489,nsv891491,nsv891495,nsv891488,nsv891490 M 6533 0 153 "" IS30041,IS30141,IS30165,IS30211,IS30369,IS30389,IS30407,IS30432,IS30537,IS30883,IS30899,IS31081,IS31193,IS31543,IS31553,IS31570,IS31587,IS31757,IS31763,IS31835,IS31861,IS31991,IS32306,IS32607,IS32615,IS32644,IS33208,IS33262,IS33475,IS33514,IS33747,IS33760,IS33786,IS33797,IS34141,IS34184,IS34353,IS34382,IS34409,IS34439,IS34458,IS34565,IS34573,IS35088,IS35131,IS35145,IS35219,IS35280,IS35287,IS35319,IS35528,IS35671,IS35789,IS35833,IS35867,IS36049,IS36064,IS36103,IS36440,IS36600,IS36678,IS36698,IS36715,IS37159,IS37194,IS37207,IS37210,IS37214,IS37338,IS37346,IS37422,IS37428,IS37498,IS37573,IS37683,IS37713,IS37778,IS37918,IS38113,IS38115,IS38128,IS38145,IS38161,IS38220,IS38270,IS38274,IS38337,IS38410,IS38474,IS38508,IS38524,IS38572,IS38599,IS38663,IS38665,IS38810,IS38959,IS39011,IS39100,IS39125,IS39181,IS39233,IS39316,IS39330,IS39336,IS39393,IS39400,IS39512,IS39517,IS39526,IS40057,IS40111,IS40156,IS40248,IS40304,IS40334,IS40387,IS40433,IS40471,IS40494,IS40577,IS40676,IS40738,IS40823,IS40862,IS40955,IS40966,IS41008,IS41013,IS41168,IS41172,IS41284,IS41782,IS41858,IS41859,IS41860,IS41887,IS41981,MS12209,MS13383,MS14708,MS16697,MS17014,MS18311,MS18436,MS19267,MS19700,MS21709,MS22662,MS24584,MS25087,MS25529,SP53415 nsv470237 8 137746265 137920837 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546773,nssv546772,nssv546767,nssv546774,nssv546769,nssv546771,nssv546766,nssv546770,nssv546768 M 443 0 9 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00072,HGDP00076,HGDP00330,HGDP00559,HGDP00564,HGDP00584,HGDP00622,HGDP00892,HGDP01386 dgv898n27 8 137746857 137948247 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465865,nsv465837,nsv465917,nsv465836,nsv465919,nsv465846,nsv465843,nsv465918,nsv465856,nsv465840,nsv465847,nsv465920,nsv465830,nsv465860,nsv465857,nsv465848,nsv465868,nsv465870,nsv465874,nsv465842,nsv465864,nsv465867,nsv465855,nsv465873,nsv465854,nsv465835,nsv465863,nsv465880,nsv465859,nsv465862,nsv465882,nsv465871,nsv465869,nsv465924,nsv465858,nsv465845,nsv465849,nsv465866,nsv465852,nsv465926,nsv465851,nsv465841,nsv465881,nsv465844,nsv465853 M 1557 0 45 "" 1780854095_A,1780854129_A,1780854334_A,1780854455_A,1780854566_A,1780862002_A,1780862014_A,1780862101_A,1780862227_A,1780862274_A,1780862452_A,1782681096_A,1782681217_A,1782681317_A,1798860361_A,1798860594_A,HGDP00003,HGDP00025,HGDP00037,HGDP00072,HGDP00076,HGDP00141,HGDP00144,HGDP00150,HGDP00155,HGDP00259,HGDP00279,HGDP00330,HGDP00338,HGDP00518,HGDP00559,HGDP00564,HGDP00584,HGDP00594,HGDP00622,HGDP00667,HGDP00670,HGDP00892,HGDP01075,HGDP01386,NINDS_13,NINDS_136,NINDS_14,NINDS_240,NINDS_82 dgv7882n71 8 137747933 137913669 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891483,nsv891484 M 6533 0 2 "" IS33829,IS37646 esv2421336 8 137750801 137896082 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5090559,essv5002623,essv5140754,essv5120656,essv5014038,essv5023786,essv5142172,essv5130098,essv5077511,essv5130059,essv5114417,essv5102244,essv5084355,essv5141197,essv5039780,essv5147288,essv5005613,essv5121680,essv5076639,essv5083765,essv5144693 M 1184 0 21 "" NA07357,NA10835,NA11832,NA12056,NA12249,NA12336,NA12343,NA12766,NA12775,NA12874,NA19663,NA20509,NA20524,NA20543,NA20753,NA20778,NA20800,NA20849,NA20877,NA20890,NA21090 esv32811 8 137754694 137919337 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv92667 S 51 0 1 "" 21944 nsv818658 8 137757137 137920837 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416255,nssv1418010,nssv1415671,nssv1415770,nssv1415674 M 112 0 5 "" NA07357,NA10835,NA12056,NA12249,NA12874 dgv2258e1 8 137757137 137969110 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18677,essv20746,essv20476,essv20491,essv18472,essv17675 M 271 0 0 "" NA07357,NA10835,NA11832,NA12056,NA12249,NA12874 essv24473 8 137760390 138040412 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12056 nsv8389 8 137763097 137782255 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17150,nssv19933 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA18853 esv24795 8 137763441 137774870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14480 S 451 0 3 "" NA18907,NA19114,NA19225 nsv831473 8 137773471 137919464 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447490,nssv1447489 M 95 1 1 "" esv4483 8 137785971 137786433 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26924 S 1 0 1 Single Asian sample YH "" YH esv1002459 8 137785996 137786321 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582371 S 3 0 1 "" HuRef esv1493698 8 137786011 137786337 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205160 S 2 0 1 "" HuRef nsv398085 8 137786012 137786337 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416663 M 24 "" dgv7883n71 8 137789577 137932941 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891497,nsv891496 M 6533 0 4 "" IS33705,IS34750,IS34755,IS37172 dgv899n27 8 137796899 137932941 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465930,nsv465932,nsv465931,nsv465929 M 1557 0 4 "" 1780854511_A,HGDP00148,NINDS_102,NINDS_215 nsv6417 8 137807984 137823638 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8565 S 9 0 1 "" NA12156 nsv437079 8 137814359 137931782 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466960 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10835 nsv526775 8 137832092 137979397 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703127 S 2026 1 0 "" nsv442532 8 137836926 137925499 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515072 8 137837600 137922512 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627998 S 1414 0 1 "" nsv891498 8 137838845 137875956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550493 S 6533 1 0 "" MS18431 nsv891499 8 137841941 137866452 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537672 S 6533 0 1 "" MS13292 nsv465933 8 137848567 137867553 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541611 S 1557 0 1 "" NINDS_116 nsv465934 8 137859169 137920837 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541612 S 1557 0 1 "" 1780854058_A nsv891500 8 137860660 137904838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579180 S 6533 0 1 "" IS35028 nsv465936 8 137895355 137909582 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541613 S 1557 0 1 "" NINDS_125 esv2421459 8 137896082 137931304 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5048554,essv5121473,essv5046322,essv5060627,essv5116188,essv5050686,essv5061333,essv5048263,essv5118505,essv5050588,essv5027931,essv5061017,essv5115336,essv5128989,essv5007532,essv5075716,essv5108830,essv5024772,essv5112305,essv5017509,essv5106899 M 1184 0 21 "" NA07357,NA10835,NA11832,NA12056,NA12249,NA12336,NA12343,NA12766,NA12775,NA12874,NA19663,NA20509,NA20524,NA20543,NA20753,NA20778,NA20800,NA20849,NA20877,NA20890,NA21090 nsv438083 8 137909582 137920941 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470045,nssv470046 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10835,NA12249 nsv891501 8 137912565 138087952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561517 S 6533 0 1 "" MS25052 nsv507496 8 137928981 137934981 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623061,nssv620439,nssv617782 M 4 3 0 "" CHM,NA15510,NA18994 nsv891502 8 137959348 138018963 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559637 S 6533 0 1 "" MS24073 nsv519195 8 137974247 137988611 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696679 S 2026 0 1 "" nsv891503 8 137988611 138166751 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596041 S 6533 0 1 "" IS40396 esv268854 8 138012844 138013739 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509341,essv2506727,essv2502041 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18909,NA19108,NA19257 nsv891504 8 138018963 138099819 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529386 S 6533 0 1 "" SP81526 nsv831474 8 138033807 138179780 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447491,nssv1447492 M 95 1 1 "" esv4853 8 138034881 138035171 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27294 S 1 0 1 Single Asian sample YH "" YH esv994783 8 138034987 138035099 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585317 S 3 0 1 "" HuRef nsv512969 8 138036994 138037733 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625623 S 1 1 0 "" 1 esv268303 8 138038765 138039117 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494138,essv2509671,essv2496487,essv2493762,essv2506256,essv2505911,essv2513268,essv2495484,essv2506466,essv2498713,essv2497482,essv2501776,essv2498051 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18508,NA18510,NA18517,NA18523,NA18861,NA18907,NA18916,NA19108,NA19138,NA19147,NA19239,NA19240 esv272922 8 138038776 138039109 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581976,essv2583090 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv518850 8 138060228 138061959 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696303 S 2026 0 1 "" esv997656 8 138072725 138076653 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565540 S 3 1 0 "" HuRef esv2454155 8 138088994 138090300 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352780 S 1 0 1 "" NA18507 nsv891505 8 138115470 138202321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550494 S 6533 1 0 "" MS18431 nsv527455 8 138126549 138198738 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703897 S 2026 1 0 "" nsv520483 8 138126549 138385179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697446 S 2026 1 0 "" esv1986618 8 138133752 138134186 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807452 S 1 0 1 "" NA18507 esv271130 8 138138687 138139009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512587,essv2493204,essv2493633,essv2505330,essv2501057,essv2513491,essv2509362,essv2504867,essv2506541,essv2502197 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18504,NA18517,NA18853,NA18856,NA18907,NA18909,NA19099,NA19108,NA19257 esv2637229 8 138142966 138145777 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211230 S 1 0 1 "" NA18507 esv4569 8 138195002 138196905 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27010 S 1 0 1 Single Asian sample YH "" YH esv987528 8 138195024 138196563 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586073 S 3 0 1 "" HuRef esv23735 8 138195078 138196563 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19630 S 451 0 2 "" NA12004,NA18508 nsv397719 8 138218307 138218358 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416297 M 24 "" esv2462836 8 138268783 138270403 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374697 S 1 0 1 "" NA18507 esv2100017 8 138269164 138269794 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4943796 S 1 0 1 "" NA18507 nsv396770 8 138269360 138269604 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415348 M 24 "" dgv7884n71 8 138272322 138451412 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891506,nsv891507 M 6533 2 0 "" IS30294,IS35582 nsv831475 8 138275001 138426000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447493 S 95 0 1 "" nsv891508 8 138292814 138771563 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563299 S 6533 1 0 "" MS25950 nsv520144 8 138305697 138310309 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697247 S 2026 0 1 "" esv1096444 8 138318153 138318259 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888126 S 2 0 1 "" HuRef esv273607 8 138364325 138364518 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580260,essv2580261,essv2579920,essv2580969,essv2579350,essv2579694 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv269137 8 138364347 138364586 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558039,essv2565659,essv2541066,essv2546464,essv2521241,essv2526178,essv2536663,essv2531901,essv2521467,essv2576719,essv2550816,essv2535054,essv2554178,essv2565327,essv2576175,essv2554815,essv2562147,essv2537366,essv2528630,essv2547018,essv2569596,essv2537000,essv2523705,essv2552884,essv2541330,essv2538458,essv2540491,essv2564970,essv2561262,essv2539743,essv2519880,essv2559940,essv2522106,essv2566095,essv2530938,essv2532605,essv2528870,essv2567534,essv2541701,essv2563916,essv2553468,essv2535839,essv2559379,essv2542021,essv2578297,essv2573020,essv2567127,essv2566442,essv2522342,essv2531308,essv2527020,essv2575093,essv2523995,essv2568707,essv2571178,essv2545941,essv2574436,essv2537969,essv2549012,essv2554649,essv2547703 M 157 61 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA07347,NA10851,NA11829,NA11831,NA11881,NA11894,NA11918,NA11920,NA12006,NA12144,NA12154,NA12155,NA12249,NA12287,NA12812,NA12814,NA12872,NA12874,NA12878,NA12891,NA12892,NA18508,NA18517,NA18537,NA18542,NA18545,NA18547,NA18552,NA18558,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18579,NA18582,NA18592,NA18603,NA18605,NA18608,NA18638,NA18856,NA18940,NA18942,NA18947,NA18948,NA18960,NA18961,NA19005,NA19102,NA19129,NA19147,NA19238,NA19239,NA19240 nsv398235 8 138377029 138377193 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416813 M 24 "" nsv507497 8 138386613 138392613 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617783 S 4 1 0 "" CHM nsv396128 8 138426911 138426911 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414706 M 24 "" nsv465937 8 138507052 138631593 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541614 S 1557 0 1 "" 1780862595_A nsv891509 8 138544250 139131521 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559050 S 6533 1 0 "" MS23702 nsv470238 8 138638580 138673540 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546775 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00877 esv2553706 8 138689541 138689596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312882 S 1 0 1 "" NA18507 nsv522635 8 138778500 138828924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706033 S 2026 1 0 "" esv7510 8 138779834 138779903 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29951 S 1 1 0 "" SJK nsv511386 8 138808888 138814163 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv625992 S 1 0 1 "" 1 esv2650393 8 138811603 138813458 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174648 S 1 0 1 "" NA18507 esv2072144 8 138811980 138813212 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4573917 S 1 0 1 "" NA18507 nsv512074 8 138812037 138813293 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624628 S 1 0 1 "" 1 esv5290 8 138812117 138813136 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27731 S 1 0 1 Single Asian sample YH "" YH esv27717 8 138812140 138813038 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11463 S 451 18 0 "" NA06985,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv1197n67 8 138812140 138813057 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824741,nsv824740 M 31 0 23 "" AK10,AK12,AK16,AK18,AK20,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18973,NA18997 nsv821435 8 138812140 138813057 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420784 S 1 0 1 "" NA10851 esv992001 8 138812147 138813042 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569030 S 3 0 1 "" HuRef esv1079478 8 138812149 138813045 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858767 S 2 0 1 "" HuRef nsv396043 8 138812150 138813045 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414621 M 24 "" esv9593 8 138812150 138813046 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32034 S 1 0 1 "" SJK nsv824743 8 138812578 138813057 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441204,nssv1438282,nssv1426831,nssv1425121,nssv1423562,nssv1432995 M 31 0 6 "" AK2,AK6,NA18951,NA18969,NA18972,NA18999 esv275192 8 138865747 138868899 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585665,essv2585687 M 1250 1 1 "" esv2589434 8 138869596 138872286 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281001 S 1 0 1 "" NA18507 esv2009233 8 138869892 138871824 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4782142 S 1 0 1 "" NA18507 esv27503 8 138870089 138871579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18344 S 451 0 4 "" NA18523,NA19129,NA19190,NA19240 nsv517417 8 138870446 138871060 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680365,nssv653224,nssv680442,nssv659234,nssv664749,nssv667354,nssv666806,nssv651960,nssv676330,nssv654455,nssv691496,nssv658340,nssv657176,nssv671798,nssv672906,nssv663097,nssv684774 M 2026 0 17 "" nsv831476 8 138881259 139063561 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447494 S 95 1 0 "" esv24147 8 138886305 138888555 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21213 S 451 0 1 "" NA18505 nsv396994 8 138886322 138888624 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415572 M 24 "" esv26157 8 138891894 138894940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17684 S 451 0 3 "" NA07045,NA12004,NA12239 esv2421491 8 138891980 138894551 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112227,essv5119436,essv5126127,essv5129313,essv5136649,essv5089851,essv5132107,essv5064951,essv5127622,essv5037605,essv5105482,essv5125427,essv5076780,essv5101169,essv5136427,essv5072578,essv5077742,essv5078899,essv5151743,essv5020408,essv5033162,essv5049627,essv5133924,essv5026305,essv5156154,essv5038601,essv5019155,essv5104842,essv5143989,essv5129138,essv5076497,essv5160261,essv5035066,essv5048038,essv5120701,essv5047678,essv5122453,essv5117111,essv5142070,essv5054873,essv5056069,essv5137045,essv5113879,essv5115974,essv5109664,essv5098735 M 1184 0 46 "" NA06997,NA07022,NA07045,NA10847,NA12043,NA12056,NA12057,NA12239,NA12341,NA12413,NA12740,NA12750,NA12751,NA12753,NA12763,NA12801,NA12813,NA12814,NA12827,NA12892,NA19649,NA19678,NA19680,NA19726,NA19780,NA19781,NA20539,NA20541,NA20542,NA20769,NA20792,NA20801,NA20806,NA20809,NA20866,NA20874,NA20883,NA20884,NA20901,NA20906,NA20909,NA20910,NA21090,NA21137,NA21143,NA21529 esv2197071 8 138917990 138918399 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4995756 S 1 0 1 "" NA18507 esv2626580 8 138929136 138930716 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201159 S 1 0 1 "" NA18507 esv2015819 8 138929543 138930164 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822350 S 1 0 1 "" NA18507 esv1369081 8 138929743 138930067 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794045 S 2 0 1 "" HuRef esv7026 8 138929746 138930060 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29467 S 1 0 1 "" SJK nsv396554 8 138955977 138965623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415132 M 24 "" esv2481866 8 138977952 138979563 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207026 S 1 0 1 "" NA18507 esv2194772 8 138978158 138978746 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830887 S 1 0 1 "" NA18507 esv2581455 8 138978342 138978556 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392425 S 1 0 1 "" NA18507 esv26944 8 138980822 138981379 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21128 S 451 2 0 "" NA12239,NA18502 nsv397029 8 138996200 138996200 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415607 M 24 "" nsv891510 8 139039284 139100018 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520099 S 6533 0 1 "" SP50685 nsv8390 8 139048858 139054524 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18178 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 dgv2259e1 8 139050457 139114328 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3258,esv878 M 271 0 0 "" NA18967 nsv831477 8 139078132 139229545 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447496 S 95 0 1 FAM135B esv25138 8 139122839 139132954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19336 S 451 0 1 "" NA12776 esv2891 8 139140733 139141211 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25332 S 1 0 1 Single Asian sample YH "" YH esv1428169 8 139140797 139140911 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4309794 S 2 0 1 "" HuRef nsv891511 8 139142000 139357180 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558455 S 6533 1 0 FAM135B MS23258 esv273680 8 139186561 139186916 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580168,essv2580967,essv2579494 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19240 esv270794 8 139186569 139186904 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2530813,essv2537221,essv2552567,essv2532404,essv2578773,essv2558826,essv2539035,essv2538239,essv2524315,essv2534673,essv2561212,essv2522166,essv2567659,essv2563684,essv2535513,essv2566863,essv2569065,essv2543676,essv2556332,essv2534044,essv2578252,essv2573035,essv2566417,essv2529977,essv2531462,essv2525669,essv2529649,essv2575747,essv2560722,essv2568711,essv2549824,essv2571197,essv2574347,essv2554548,essv2524782 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07357,NA12873,NA12878,NA18502,NA18505,NA18510,NA18516,NA18519,NA18547,NA18555,NA18561,NA18562,NA18571,NA18577,NA18603,NA18608,NA18853,NA18861,NA18870,NA18871,NA18916,NA18940,NA18942,NA18948,NA18949,NA18961,NA18980,NA19093,NA19099,NA19116,NA19147,NA19225,NA19238,NA19240 esv24380 8 139242867 139244307 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15517 S 451 0 7 FAM135B NA12004,NA12044,NA12156,NA12878,NA18909,NA18916,NA19099 nsv509281 8 139247429 139289340 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623546 S 4 1 0 FAM135B NA18994 nsv891512 8 139247598 139536317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545388 S 6533 1 0 FAM135B MS16772 nsv395932 8 139282872 139283550 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414510 M 24 FAM135B nsv465939 8 139293683 139309774 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541616 S 1557 0 1 FAM135B NINDS_236 nsv831478 8 139384691 139545976 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447497 S 95 1 0 FAM135B esv1671280 8 139395161 139395161 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4127063 S 2 1 0 FAM135B HuRef nsv6418 8 139456210 139491050 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv778 S 9 1 0 FAM135B NA19240 nsv525300 8 139496096 139496420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701406 S 2026 0 1 FAM135B nsv891513 8 139515464 139568309 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539966 S 6533 0 1 FAM135B MS14636 nsv6419 8 139612485 139642220 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10645 S 9 1 0 "" NA18956 nsv891514 8 139678269 139854974 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545389 S 6533 1 0 COL22A1 MS16772 esv7426 8 139706129 139708894 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29867 S 1 0 1 COL22A1 SJK esv2542263 8 139773027 139773195 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367759 S 1 0 1 COL22A1 NA18507 esv8995 8 139773355 139773441 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31436 S 1 0 1 COL22A1 SJK nsv517244 8 139838041 139843091 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658396,nssv669444,nssv661852,nssv692814,nssv658607,nssv660191,nssv669820,nssv662911,nssv656713,nssv666329,nssv688275,nssv682248,nssv680987,nssv657012,nssv656903,nssv685527,nssv674694,nssv675459,nssv674108,nssv664441,nssv651835,nssv682306,nssv671069,nssv678609,nssv689986,nssv688536,nssv684377,nssv676242,nssv673413,nssv692228,nssv668965,nssv679631,nssv682972,nssv652266,nssv655016,nssv681238,nssv663015,nssv656293,nssv667042,nssv658984,nssv686852,nssv674210,nssv668339,nssv676884,nssv672778,nssv663767,nssv679913,nssv680101,nssv655417,nssv677744,nssv655160,nssv657673,nssv693079,nssv687771,nssv661258,nssv654113,nssv673611,nssv669103,nssv658341,nssv689370,nssv666266,nssv683354,nssv691994,nssv669460,nssv679413,nssv684740,nssv692390,nssv666772,nssv681845,nssv678106,nssv663454,nssv663660,nssv684848,nssv665847,nssv665913,nssv682760,nssv660143,nssv691241,nssv668865,nssv688677,nssv658157,nssv672835,nssv656066,nssv678177,nssv680025,nssv676767,nssv675612,nssv692016,nssv671409,nssv657061,nssv685391,nssv677932,nssv689688,nssv657696,nssv658421,nssv684174,nssv665959,nssv689905,nssv672603,nssv692979,nssv665281,nssv683201,nssv673325,nssv690140 M 2026 102 2 COL22A1 nsv521435 8 139843066 139844252 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694446 S 2026 1 0 COL22A1 nsv519838 8 139938492 139940650 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658985,nssv676885,nssv689987 M 2026 0 3 COL22A1 esv2189069 8 139963788 139964133 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4895574 S 1 0 1 COL22A1 NA18507 esv274883 8 139976088 139980416 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585431 S 1250 0 1 COL22A1 nsv824744 8 139979724 139981093 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426832 S 31 0 1 COL22A1 AK6 nsv520099 8 139980721 139986008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660745,nssv678384,nssv680120,nssv686043 M 2026 0 4 COL22A1 nsv526443 8 139980721 139988449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702746 S 2026 0 1 COL22A1 esv22132 8 139994212 139994892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20892 S 451 0 1 COL22A1 NA15510 nsv507498 8 140016999 140022999 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623062,nssv617784,nssv621934,nssv620440 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv2473531 8 140033154 140034670 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214698 S 1 0 1 "" NA18507 esv2106495 8 140083099 140083564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601790 S 1 0 1 "" NA18507 esv4842 8 140083241 140083488 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27283 S 1 0 1 Single Asian sample YH "" YH nsv397632 8 140083253 140083369 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416210 M 24 "" nsv396677 8 140083311 140083427 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415255 M 24 "" nsv519290 8 140088180 140090202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696771 S 2026 0 1 "" nsv518241 8 140088180 140093351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695673 S 2026 0 1 "" esv270593 8 140150670 140150968 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495483,essv2503829,essv2509905,essv2496402,essv2493588,essv2501903,essv2495032 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11919,NA12761,NA18508,NA18510,NA18517,NA19239 esv272443 8 140150682 140150926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579031 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv524541 8 140163078 140208116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700491 S 2026 0 1 "" nsv523023 8 140182096 140227476 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698702 S 2026 0 1 "" nsv6420 8 140204129 140237941 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3693 S 9 1 0 "" NA12878 esv272383 8 140214383 140220484 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580731 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv27867 8 140229834 140230583 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18122 S 451 0 1 "" NA18505 esv271558 8 140230476 140230654 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511729,essv2504236,essv2505249,essv2504607,essv2501968,essv2498191 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18505,NA18853,NA19099,NA19239,NA19240 esv273880 8 140230523 140230671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579360,essv2579460 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv2634180 8 140239052 140239585 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331193 S 1 1 0 "" NA18507 esv1047658 8 140239375 140239375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843275 S 2 1 0 "" HuRef nsv507499 8 140265533 140271533 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621935 S 4 1 0 "" NA10860 esv2433431 8 140326008 140329138 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307351 S 1 0 1 "" NA18507 esv2083315 8 140326347 140328541 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4693838 S 1 0 1 "" NA18507 esv23510 8 140326800 140328335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10855 S 451 0 3 "" NA18505,NA18523,NA18916 dgv2260e1 8 140327110 140328379 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1155,essv12132 M 271 0 0 "" NA19173 esv2421351 8 140327190 140328379 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5149012,essv5146719,essv5084926,essv5152682,essv5097340,essv5122146,essv5113713,essv5072524,essv5133702,essv5129190,essv5093391,essv5029984,essv5067307,essv5116962,essv5037841,essv5010600,essv5018776,essv5071739,essv5036602,essv5008604,essv5091156,essv5128894,essv5070105,essv5005529,essv5151347,essv5021048,essv5119549,essv5049436,essv5030422,essv5110322,essv5157027,essv5007103,essv5042416,essv5113841,essv5116288,essv5050949,essv5059981,essv5057424,essv5159209,essv5013894,essv5051290,essv5145315,essv5135639,essv5069037,essv5017854,essv5110416,essv5014836,essv5039834,essv5153286,essv5027525,essv5056239,essv5034351,essv5106878,essv5137142,essv5142678,essv5044619,essv5054457,essv5112924,essv5079731,essv5125825,essv5042699,essv5020517,essv5047865,essv5128269,essv5077940,essv5135883,essv5099663,essv5037071,essv5024440,essv5144647,essv5105693,essv5092904,essv5070613,essv5111110,essv5121560,essv5012433,essv5104052,essv5129385,essv5117628,essv5124990,essv5045399,essv5128560,essv5017581,essv5026554,essv5086226 M 1184 0 85 "" NA18129,NA18146,NA18500,NA18501,NA18505,NA18506,NA18507,NA18516,NA18599,NA18916,NA18923,NA18925,NA18930,NA18979,NA19117,NA19171,NA19173,NA19174,NA19175,NA19176,NA19178,NA19180,NA19182,NA19183,NA19198,NA19199,NA19207,NA19208,NA19214,NA19221,NA19223,NA19311,NA19316,NA19319,NA19373,NA19374,NA19379,NA19381,NA19382,NA19385,NA19390,NA19404,NA19429,NA19440,NA19451,NA19462,NA19471,NA19625,NA19700,NA19818,NA19819,NA19828,NA19917,NA19921,NA19982,NA19983,NA20129,NA20284,NA20317,NA20347,NA20357,NA20358,NA20359,NA20892,NA21089,NA21099,NA21297,NA21313,NA21336,NA21352,NA21356,NA21359,NA21362,NA21363,NA21364,NA21370,NA21415,NA21494,NA21522,NA21632,NA21647,NA21648,NA21682,NA21768,NA21784 esv22706 8 140333430 140336085 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18847 S 451 7 0 "" NA12156,NA18517,NA18858,NA18907,NA19114,NA19147,NA19225 esv1000599 8 140334560 140336085 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586663 S 3 1 0 "" HuRef esv8444 8 140348255 140349913 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30885 S 1 0 1 "" SJK nsv891515 8 140350848 140389266 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580041,nssv1555245,nssv1553160,nssv1597928 M 6533 0 4 "" IS35227,IS40902,MS19771,MS21249 dgv7885n71 8 140350848 140428977 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891517,nsv891516 M 6533 0 2 "" IS36131,MS22008 nsv518541 8 140358168 140372239 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695985 S 2026 0 1 "" nsv524663 8 140399778 140521054 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700632 S 2026 1 0 "" nsv831479 8 140401809 140430509 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447498,nssv1447502,nssv1447501,nssv1447504,nssv1447503,nssv1447505,nssv1447500,nssv1447499 M 95 0 8 "" esv2305966 8 140491221 140491615 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952443 S 1 0 1 "" NA18507 nsv398121 8 140491377 140491531 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416699 M 24 "" nsv6422 8 140496145 140541183 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8566 S 9 0 1 "" NA12156 esv2310600 8 140544312 140544976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4849471 S 1 0 1 "" NA18507 dgv257n6 8 140544441 140544783 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv396719,nsv395808 M 24 "" esv1717867 8 140544451 140544783 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364517 S 2 0 1 "" HuRef nsv6423 8 140654474 140698887 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1771 S 9 0 1 KCNK9 NA18555 nsv515503 8 140658831 140660763 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658663,nssv653349 M 2026 2 0 "" esv2481184 8 140661840 140662816 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307222 S 1 1 0 "" NA18507 esv269303 8 140662483 140662822 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2541045,essv2522685,essv2570957,essv2554103,essv2558353,essv2554809,essv2561808,essv2556997,essv2551866,essv2536958,essv2527032,essv2566732,essv2551006,essv2556179,essv2534135,essv2533684,essv2529771,essv2575531,essv2575308,essv2538690,essv2560822,essv2568794,essv2560343,essv2549839,essv2551447,essv2548963,essv2533268 M 157 27 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA11831,NA11931,NA11993,NA12287,NA12750,NA12872,NA12874,NA18501,NA18504,NA18517,NA18522,NA18853,NA18858,NA18871,NA18916,NA18944,NA19093,NA19099,NA19102,NA19108,NA19137,NA19147,NA19190,NA19225,NA19257 esv22830 8 140672973 140676202 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11269 S 451 10 0 "" NA06985,NA11931,NA11993,NA12239,NA12287,NA18505,NA19108,NA19129,NA19147,NA19190 nsv515073 8 140673504 140675472 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627999 S 1414 1 0 "" nsv442125 8 140673518 140675508 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv6424 8 140673910 140677571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5136 S 9 1 0 "" NA19129 nsv499744 8 140675852 140675907 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586537 S 9 1 0 "" nsv522721 8 140713751 140725052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698352 S 2026 0 1 KCNK9 nsv525709 8 140714686 140747601 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701871 S 2026 1 0 KCNK9 nsv6425 8 140751136 140797606 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6257 S 9 0 1 KCNK9 NA12156 esv2154233 8 140758999 140759582 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688029 S 1 0 1 KCNK9 NA18507 nsv397287 8 140759189 140759408 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415865 M 24 KCNK9 nsv824745 8 140764315 140812238 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438964 S 31 1 0 KCNK9,TRAPPC9 NA18973 esv1065914 8 140768842 140768842 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3906831 S 2 1 0 KCNK9 HuRef nsv397727 8 140768917 140768986 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416305 M 24 KCNK9 esv1422449 8 140769020 140769080 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716013 S 2 0 1 KCNK9 HuRef nsv465942 8 140772366 140811036 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541617 S 1557 0 1 KCNK9 1780862093_A nsv524756 8 140777899 140779139 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700747 S 2026 1 0 KCNK9 dgv1198n67 8 140782131 140789064 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824746,nsv824747 M 31 2 0 KCNK9 NA18526,NA18547 nsv891518 8 140803238 140846433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543528 S 6533 0 1 TRAPPC9 MS16153 dgv7886n71 8 140803238 140889001 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891519,nsv891520 M 6533 0 2 TRAPPC9 MS13770,MS17208 nsv521446 8 140817276 140821201 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694447 S 2026 0 1 TRAPPC9 dgv900n27 8 140828138 140875114 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465946,nsv465945 M 1557 0 2 TRAPPC9 1780862156_A,1780862403_A esv24098 8 140828464 140839217 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15019,esv20933,esv11817 M 451 6 3 TRAPPC9 NA06985,NA12044,NA12776,NA15510,NA18502,NA18858,NA18861,NA18916,NA19129 esv2522775 8 140828559 140830434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376617 S 1 0 1 TRAPPC9 NA18507 esv1397058 8 140829386 140829504 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039873 S 2 0 1 TRAPPC9 HuRef esv1555138 8 140837109 140837811 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833930 S 2 0 1 TRAPPC9 HuRef dgv901n27 8 140846433 140892147 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465948,nsv465947 M 1557 0 2 TRAPPC9 HGDP00527,NINDS_111 nsv831480 8 140919525 141098715 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447507 S 95 0 1 TRAPPC9 nsv891521 8 140932257 140966275 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546671 S 6533 0 1 TRAPPC9 MS17208 nsv891522 8 140943111 141012685 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538624 S 6533 0 1 TRAPPC9 MS13770 esv2489107 8 140953341 140954923 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374044 S 1 0 1 TRAPPC9 NA18507 esv2020062 8 140953437 140954614 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4549477 S 1 0 1 TRAPPC9 NA18507 nsv518058 8 140956822 140983812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695469 S 2026 0 1 TRAPPC9 nsv891523 8 140971097 141025315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530615 S 6533 0 1 TRAPPC9 MS10311 nsv396941 8 141011464 141011464 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415519 M 24 TRAPPC9 nsv397143 8 141011521 141011521 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415721 M 24 TRAPPC9 dgv2261e1 8 141036810 141046387 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3921,esv1116 M 271 0 0 TRAPPC9 NA18960 nsv396630 8 141040679 141040732 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415208 M 24 TRAPPC9 esv994027 8 141041529 141042558 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564389 S 3 1 0 TRAPPC9 HuRef nsv509282 8 141041764 141083646 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623547 S 4 1 0 TRAPPC9 NA18994 esv2323808 8 141044887 141045315 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945476 S 1 0 1 TRAPPC9 NA18507 esv3795 8 141044980 141045207 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26236 S 1 0 1 Single Asian sample YH TRAPPC9 YH esv1007558 8 141045021 141045099 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568225 S 3 0 1 TRAPPC9 HuRef esv1029437 8 141045094 141045173 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208604 S 2 0 1 TRAPPC9 HuRef nsv891524 8 141048464 141071064 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546672,nssv1530616 M 6533 0 2 TRAPPC9 MS10311,MS17208 nsv891525 8 141048464 141104545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552129 S 6533 0 1 TRAPPC9 MS19226 nsv891526 8 141048464 141137322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557468 S 6533 0 1 TRAPPC9 MS22705 dgv7887n71 8 141060466 141123765 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891528,nsv891527 M 6533 0 2 TRAPPC9 MS13777,MS19808 esv7404 8 141109655 141112088 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29845 S 1 0 1 TRAPPC9 SJK nsv524624 8 141114914 141115086 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700586 S 2026 0 1 TRAPPC9 nsv522837 8 141114914 141129209 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698488 S 2026 0 1 TRAPPC9 esv269787 8 141117207 141117545 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515148,essv2516354,essv2515857,essv2513765 M 157 4 0 Samples from several populations that are part of the HapMap project. TRAPPC9 NA12812,NA12814,NA12873,NA19143 nsv6426 8 141118070 141153097 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8567 S 9 0 1 TRAPPC9 NA12156 esv2630135 8 141189055 141190572 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266625 S 1 0 1 TRAPPC9 NA18507 esv1759028 8 141189633 141189895 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274786 S 2 0 1 TRAPPC9 HuRef nsv507500 8 141209398 141215398 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620441 S 4 1 0 TRAPPC9 NA15510 esv25086 8 141236067 141236672 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11139 S 451 0 2 TRAPPC9 NA18502,NA18508 esv24765 8 141274107 141276184 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14592 S 451 0 1 TRAPPC9 NA18502 esv2002052 8 141278644 141279080 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787183 S 1 0 1 TRAPPC9 NA18507 nsv891529 8 141282470 141334869 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531215 S 6533 0 1 TRAPPC9 MS10378 nsv521508 8 141308196 141381723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698125 S 2026 0 1 TRAPPC9 nsv891530 8 141429349 141511163 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574970 S 6533 1 0 TRAPPC9 IS33676 esv268825 8 141430421 141430769 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514694,essv2515645,essv2516011,essv2519426 M 157 4 0 Samples from several populations that are part of the HapMap project. TRAPPC9 NA07346,NA11840,NA12815,NA12873 nsv509283 8 141514296 141601682 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620914 S 4 1 0 CHRAC1,TRAPPC9 NA15510 nsv524887 8 141527676 141537142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700893 S 2026 0 1 TRAPPC9 nsv465951 8 141527676 141599239 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541623 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CHRAC1,TRAPPC9 HGDP00663 esv2064769 8 141537138 141537547 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522032 S 1 0 1 TRAPPC9 NA18507 nsv397785 8 141552317 141553984 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416363 M 24 "" nsv891531 8 141552710 141699354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585880 S 6533 0 1 CHRAC1,EIF2C2 IS37646 esv1539301 8 141580462 141580462 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292875 S 2 1 0 "" HuRef esv267994 8 141596755 141596840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517128 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set dgv7888n71 8 141604022 141701642 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891532,nsv891533 M 6533 0 2 EIF2C2 MS10311,MS17208 dgv7889n71 8 141606588 141652078 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891534,nsv891535 M 6533 0 2 EIF2C2 MS10769,MS18276 nsv6427 8 141641416 141705434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5137,nssv779 M 9 2 0 EIF2C2 NA19129,NA19240 nsv465952 8 141690220 141748999 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541624 S 1557 0 1 EIF2C2,PTK2 1780862444_A nsv512075 8 141700084 141703136 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624629 S 1 0 1 EIF2C2 1 esv2539959 8 141701266 141703024 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174443 S 1 0 1 EIF2C2 NA18507 esv1712972 8 141702205 141702565 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790277 S 2 0 1 EIF2C2 HuRef nsv526444 8 141709476 142107091 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702747 S 2026 1 0 EIF2C2,PTK2 nsv824748 8 141711957 141717704 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433779 S 31 1 0 EIF2C2 NA18526 esv24351 8 141714312 141715547 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20659 S 451 0 1 EIF2C2 NA07045 nsv891536 8 141726315 141916431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520738 S 6533 1 0 PTK2 SP51235 esv1765152 8 141781689 141781689 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4264167 S 2 1 0 PTK2 HuRef nsv831482 8 142015496 142175683 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447508 S 95 0 1 PTK2 esv1325604 8 142029352 142029352 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3823010 S 2 1 0 PTK2 HuRef nsv524300 8 142065125 142072236 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700201 S 2026 1 0 PTK2 nsv8392 8 142070908 142110862 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20534,nssv19963 M 31 2 0 Samples from several populations that are part of the HapMap project. PTK2 NA18504,NA18517 esv23036 8 142071795 142074752 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13342 S 451 2 0 PTK2 NA18517,NA19147 nsv438084 8 142072079 142073375 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470047 S 269 0 1 Samples from several populations that are part of the HapMap project. PTK2 NA19116 esv2422061 8 142072182 142074091 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5042765,essv5137272,essv5013580,essv5070714,essv5071955,essv5043997,essv5033826,essv5087729,essv5137730,essv5079723,essv5014963,essv5135502,essv5102308,essv5055948,essv5064225,essv5056279,essv5058276,essv5146080,essv5149433,essv5136879,essv5127417,essv5116990,essv5029887,essv5153590,essv5016789,essv5059935,essv5064325,essv5039740,essv5153974,essv5077988,essv5040108,essv5118526 M 1184 32 0 PTK2 NA18487,NA18489,NA18504,NA18517,NA19095,NA19116,NA19120,NA19121,NA19147,NA19176,NA19181,NA19183,NA19213,NA19256,NA19307,NA19431,NA19437,NA19438,NA19703,NA19705,NA20287,NA20342,NA20345,NA20348,NA21388,NA21389,NA21473,NA21513,NA21514,NA21520,NA21613,NA21686 nsv891537 8 142086091 142245462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597905 S 6533 0 1 DENND3 IS41319 nsv509284 8 142089395 142209014 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619536 S 4 1 0 DENND3 NA10860 nsv398136 8 142153391 142153391 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416714 M 24 "" nsv396950 8 142153393 142153393 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415528 M 24 "" nsv824749 8 142155033 142155587 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426833 S 31 0 1 "" AK6 nsv526368 8 142168429 142174126 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702663 S 2026 0 1 "" nsv891538 8 142185324 142269913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530618 S 6533 0 1 DENND3 MS10311 nsv831483 8 142202743 142369651 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447509 S 95 1 0 DENND3,SLC45A4 nsv824750 8 142250952 142251399 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434141 S 31 0 1 DENND3 NA18592 dgv7890n71 8 142257221 142297991 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891539,nsv891541 M 6533 0 2 DENND3,SLC45A4 IS34304,IS35484 nsv891540 8 142257221 142314828 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543529 S 6533 0 1 DENND3,SLC45A4 MS16153 nsv470239 8 142261751 142310420 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546779,nssv546777,nssv546778 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DENND3,SLC45A4 HGDP00302,HGDP00661,HGDP00825 dgv7891n71 8 142261751 142320735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891543,nsv891542,nsv891544,nsv891546,nsv891545 M 6533 0 6 DENND3,SLC45A4 IS33178,IS33248,IS33504,IS37646,IS41410,MS16315 dgv7892n71 8 142275146 142308392 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891547,nsv891548 M 6533 0 2 SLC45A4 SP54956,SP54988 esv990281 8 142275971 142277226 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565319 S 3 1 0 "" HuRef esv1229425 8 142282720 142282791 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4013395 S 2 0 1 "" HuRef nsv516666 8 142288992 142310420 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671883,nssv693448,nssv656371,nssv670018 M 2026 0 4 SLC45A4 nsv891549 8 142288992 142331509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530619 S 6533 0 1 SLC45A4 MS10311 nsv6428 8 142291249 142324812 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8569 S 9 1 0 SLC45A4 NA12156 dgv7893n71 8 142298552 142427226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891551,nsv891550 M 6533 0 3 LOC731779,SLC45A4 IS33776,IS38176,MS11726 nsv465955 8 142305519 142325898 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541625 S 1557 0 1 SLC45A4 NINDS_194 nsv516911 8 142322438 142331509 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689959,nssv688315,nssv654910,nssv675492,nssv662940,nssv691965,nssv675861,nssv682528,nssv697609 M 2026 1 8 "" nsv522318 8 142322438 142371206 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694155 S 2026 0 1 "" esv27607 8 142324203 142324728 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20850 S 451 1 0 "" NA19147 esv6131 8 142325726 142325794 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28572 S 1 1 0 "" SJK esv1087958 8 142325888 142325888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4270007 S 2 1 0 "" HuRef esv1010766 8 142331751 142331896 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582929 S 3 0 1 "" HuRef esv1993873 8 142331849 142332219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4710200 S 1 0 1 "" NA18507 nsv831484 8 142337249 142491552 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447510 S 95 0 1 GPR20,LOC731779 dgv7894n71 8 142346522 142457437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891557,nsv891552 M 6533 0 3 GPR20,LOC731779 IS32322,MS10311,MS18276 dgv7895n71 8 142346522 142559261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891554,nsv891560,nsv891553 M 6533 0 3 FLJ43860,GPR20,LOC731779,PTP4A3 IS37646,MS10769,MS17208 nsv465956 8 142349265 142503053 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541626 S 1557 1 0 GPR20,LOC731779,PTP4A3 1780862071_A nsv6429 8 142358652 142423004 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1772,nssv6258 M 9 0 2 LOC731779 NA12156,NA18555 nsv891555 8 142371442 142427226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589082,nssv1573183,nssv1572782 M 6533 0 3 LOC731779 IS33178,IS33248,IS38293 dgv7896n71 8 142371442 142644144 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891556,nsv891563 M 6533 0 2 FLJ43860,GPR20,LOC731779,PTP4A3 IS31045,IS33504 nsv470240 8 142373904 142592935 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546782,nssv546783,nssv546781,nssv546780,nssv546784 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ43860,GPR20,LOC731779,PTP4A3 HGDP00288,HGDP00657,HGDP00661,HGDP00825,HGDP00978 dgv7897n71 8 142374974 142530876 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891564,nsv891559,nsv891562,nsv891561,nsv891558 M 6533 0 6 FLJ43860,GPR20,LOC731779,PTP4A3 IS33684,IS35484,IS39233,MS11306,MS13095,MS16153 nsv509285 8 142385772 142584535 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623548,nssv619538,nssv619537,nssv623549 M 4 2 0 FLJ43860,GPR20,LOC731779,PTP4A3 NA10860,NA18994 nsv465957 8 142402607 142457437 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541627 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR20,LOC731779 HGDP00713 nsv465958 8 142405862 142528214 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541628 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ43860,GPR20,LOC731779,PTP4A3 HGDP00402 nsv820620 8 142414320 142415165 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420785 S 1 0 1 "" NA10851 esv28752 8 142414375 142415165 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19807 S 451 0 12 "" NA11894,NA12044,NA12156,NA12414,NA12776,NA12878,NA18502,NA18517,NA18916,NA19099,NA19114,NA19240 esv1163957 8 142414606 142414774 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173855 S 2 0 1 "" HuRef esv4708 8 142426970 142427707 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27149 S 1 0 1 Single Asian sample YH "" YH nsv891565 8 142427274 142528214 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596042 S 6533 0 1 FLJ43860,GPR20,PTP4A3 IS40396 nsv465959 8 142439838 142512371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541629 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR20,PTP4A3 HGDP00856 dgv7898n71 8 142451939 142528214 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891567,nsv891568,nsv891570,nsv891566 M 6533 0 9 FLJ43860,PTP4A3 IS30369,IS33455,IS34005,IS37172,IS40297,MS10311,MS10698,MS16315,SP54043 nsv891569 8 142461502 142502439 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510764 S 6533 0 1 PTP4A3 SP54988 nsv6430 8 142466867 142472633 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv780 S 9 1 0 "" NA19240 esv1004455 8 142474848 142474848 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570156 S 3 1 0 "" HuRef nsv398456 8 142474850 142474901 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417034 M 24 "" esv1397630 8 142474897 142474897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228137 S 2 1 0 "" HuRef esv1011203 8 142482887 142505388 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565632 S 3 1 0 PTP4A3 HuRef nsv6431 8 142489554 142505732 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10646,nssv3694,nssv8570,nssv5138,nssv2802 M 9 5 0 PTP4A3 NA12156,NA12878,NA18555,NA18956,NA19129 nsv824751 8 142491683 142517242 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441240 S 31 1 0 FLJ43860,PTP4A3 NA18547 nsv397582 8 142493154 142493154 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416160 M 24 "" dgv7899n71 8 142493544 142529451 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891574,nsv891571,nsv891572,nsv891573 M 6533 0 4 FLJ43860,PTP4A3 MS13770,MS18276,SP54956,SP55021 dgv902n27 8 142502439 142536757 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465960,nsv465963,nsv465962 M 1557 0 3 FLJ43860,PTP4A3 1782681313_A,HGDP00784,NINDS_111 dgv7900n71 8 142503053 142534149 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891576,nsv891575 M 6533 0 2 FLJ43860,PTP4A3 IS35007,IS40799 esv22902 8 142508877 142509722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11166 S 451 0 1 PTP4A3 NA18916 esv1265503 8 142508949 142508949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110742 S 2 1 0 PTP4A3 HuRef esv1420349 8 142509274 142509274 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4112288 S 2 1 0 PTP4A3 HuRef esv1229387 8 142509323 142509323 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3857148 S 2 1 0 PTP4A3 HuRef nsv891577 8 142509509 142534149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571217 S 6533 1 0 FLJ43860,PTP4A3 IS32644 esv2268193 8 142516167 142516775 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4999825 S 1 0 1 FLJ43860 NA18507 esv1007571 8 142516311 142516421 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576250 S 3 0 1 FLJ43860 HuRef esv1160693 8 142516398 142516472 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3946820 S 2 0 1 FLJ43860 HuRef nsv397559 8 142516502 142516612 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416137 M 24 FLJ43860 esv1434042 8 142524930 142524930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864058 S 2 1 0 FLJ43860 HuRef esv1393576 8 142525000 142525000 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3625416 S 2 1 0 FLJ43860 HuRef nsv524817 8 142529990 142536757 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700811 S 2026 0 1 FLJ43860 nsv465964 8 142538260 142559261 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541634 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ43860 HGDP01075 nsv891578 8 142545711 142572255 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572128 S 6533 0 1 FLJ43860 IS32888 nsv891579 8 142545711 142586404 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537088 S 6533 0 1 FLJ43860 MS13095 nsv517560 8 142560420 142565324 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676649,nssv680988,nssv657062,nssv669104,nssv692768,nssv695137,nssv652357,nssv663455,nssv704861,nssv674862,nssv661392,nssv703002,nssv670725,nssv685676 M 2026 11 3 FLJ43860 nsv6433 8 142567758 142590455 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1773 S 9 1 0 FLJ43860 NA18555 esv22145 8 142571557 142572502 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20928 S 451 1 19 FLJ43860 NA06985,NA11931,NA11995,NA12006,NA12044,NA12156,NA12287,NA12489,NA12828,NA18502,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19147,NA19225,NA19240 esv988730 8 142571647 142573838 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565120 S 3 1 0 FLJ43860 HuRef nsv398406 8 142571655 142571777 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416984 M 24 FLJ43860 nsv521766 8 142577090 142582314 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694533 S 2026 1 0 FLJ43860 dgv7901n71 8 142578462 142606897 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891582,nsv891580 M 6533 0 2 FLJ43860 MS16153,SP55021 nsv891581 8 142578462 142644144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530621,nssv1546675 M 6533 0 2 FLJ43860 MS10311,MS17208 nsv465966 8 142586404 142613592 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541635 S 1557 0 1 FLJ43860 NINDS_70 nsv891583 8 142586409 142624890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565161 S 6533 0 1 FLJ43860 IS30369 nsv465967 8 142599893 142625987 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541636 S 1557 0 1 "" NINDS_4 nsv516333 8 142600146 142602117 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667645,nssv662614 M 2026 0 2 "" nsv465968 8 142618960 142655292 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541637 S 1557 0 1 "" NINDS_272 esv2640845 8 142620068 142620772 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390418 S 1 1 0 "" NA18507 nsv512971 8 142620111 142621219 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625625 S 1 1 0 "" 1 nsv396282 8 142628674 142628757 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414860 M 24 "" esv24680 8 142629576 142630856 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13263,esv14126 M 451 20 0 "" NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12044,NA12156,NA12287,NA12414,NA15510,NA18508,NA18517,NA18523,NA18858,NA18916,NA19147,NA19190,NA19225,NA19240 esv992541 8 142629731 142630856 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586237 S 3 1 0 "" HuRef esv1090902 8 142629732 142629732 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3918188 S 2 1 0 "" HuRef esv1533335 8 142629925 142629925 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3740062 S 2 1 0 "" HuRef esv1425414 8 142630205 142630861 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920306 S 2 0 1 "" HuRef nsv512972 8 142633851 142634311 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625626 S 1 1 0 "" 1 esv3872 8 142633979 142634537 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26313 S 1 0 1 Single Asian sample YH "" YH esv1252449 8 142634294 142634294 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3781725 S 2 1 0 "" HuRef esv6996 8 142634300 142634459 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29437 S 1 0 1 "" SJK nsv470241 8 142636998 142728105 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546785,nssv546786 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00302,HGDP00661 dgv903n27 8 142644713 142682236 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465973,nsv465974,nsv465975 M 1557 0 3 "" HGDP01163,HGDP01339,HGDP01351 nsv470242 8 142644713 142718373 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546790,nssv546789,nssv546788 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00464,HGDP00475,HGDP01216 nsv891584 8 142644782 142765673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546676 S 6533 0 1 "" MS17208 dgv7902n71 8 142655292 142772674 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891590,nsv891585,nsv891589 M 6533 0 3 "" IS38293,MS10311,MS11726 nsv509286 8 142665749 142863512 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619539,nssv623550,nssv623551,nssv620915,nssv619540 M 4 3 0 "" NA10860,NA15510,NA18994 dgv7903n71 8 142673481 142710087 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891587,nsv891586 M 6533 0 6 "" IS32322,IS41634,MS10769,MS11306,MS16315,MS18276 nsv891588 8 142673481 142725818 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533547 S 6533 0 1 "" MS11237 nsv6434 8 142695540 142736783 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3696,nssv781 M 9 2 0 "" NA12878,NA19240 nsv526295 8 142702107 142702812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702576 S 2026 0 1 "" esv2166451 8 142705427 142705869 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883383 S 1 0 1 "" NA18507 nsv820729 8 142709673 142714238 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420786 S 1 1 0 "" NA10851 esv22597 8 142709773 142714238 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15008 S 451 1 29 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147 nsv512076 8 142709869 142714240 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624630 S 1 0 1 "" 1 nsv499182 8 142711487 142711659 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586539 S 9 1 0 "" esv998131 8 142712321 142713423 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582984 S 3 0 1 "" HuRef esv1256378 8 142712957 142714038 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039598 S 2 0 1 "" HuRef nsv818659 8 142716870 142718373 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417899 S 112 0 1 "" NA18853 nsv398378 8 142724188 142724244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416956 M 24 "" esv2527455 8 142737253 142737752 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307797 S 1 1 0 "" NA18507 nsv512973 8 142737414 142737570 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625627 S 1 1 0 "" 1 nsv465976 8 142776025 142800507 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541642 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00875 nsv470243 8 142779890 142847984 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546794,nssv546797,nssv546791,nssv546799,nssv546800,nssv546796,nssv546792,nssv546793,nssv546795,nssv546801 M 443 0 10 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00290,HGDP00313,HGDP00328,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00825,HGDP00954,HGDP01397 nsv891591 8 142781860 142805713 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589920 S 6533 1 0 "" IS38430 dgv7904n71 8 142782750 142883123 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891599,nsv891596,nsv891592 M 6533 0 5 "" IS33504,MS10123,MS11306,MS13770,MS18276 dgv7905n71 8 142784563 142830192 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891593,nsv891594 M 6533 0 2 "" IS38403,MS20042 dgv7906n71 8 142784563 142938556 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891595,nsv891597 M 6533 2 0 "" IS38484,IS41840 nsv465977 8 142796991 142814556 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541643 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00838 nsv516547 8 142800438 142800507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687901,nssv669056,nssv683984 M 2026 0 3 "" dgv7907n71 8 142801003 142902704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891600,nsv891598 M 6533 0 3 "" MS10769,MS16153,MS17208 esv999837 8 142817416 142817416 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567361 S 3 1 0 "" HuRef esv1283622 8 142817507 142817507 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318385 S 2 1 0 "" HuRef esv2605188 8 142835139 142835467 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180633 S 1 1 0 "" NA18507 nsv6435 8 142836270 142867429 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv782,nssv3697,nssv6261 M 9 3 0 "" NA12156,NA12878,NA19240 esv1506064 8 142858940 142858940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3965196 S 2 1 0 "" HuRef nsv511396 8 142888945 142893070 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626003 S 1 0 1 "" 1 esv21497 8 142891489 142893155 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18782 S 451 0 10 "" NA11993,NA12004,NA12006,NA12489,NA12828,NA18502,NA18909,NA19114,NA19190,NA19240 esv1747013 8 142892748 142892930 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3951436 S 2 0 1 "" HuRef nsv509287 8 142921492 142955151 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619541,nssv620916 M 4 2 0 "" NA10860,NA15510 nsv824752 8 142926047 142932161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429957,nssv1435990 M 31 0 2 "" AK14,NA18566 nsv442126 8 142926302 142931358 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2441943 8 142937294 142938285 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317204 S 1 1 0 "" NA18507 esv269874 8 142937935 142938177 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2542368,essv2536439,essv2531995,essv2548266,essv2544309,essv2520278,essv2561982,essv2537585,essv2547104,essv2557272,essv2556833,essv2552445,essv2562757,essv2569417,essv2561700,essv2566701,essv2556328,essv2529777,essv2538508,essv2572638,essv2568613,essv2545014,essv2551439,essv2533384,essv2563391 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA11919,NA11920,NA12006,NA12045,NA12414,NA12716,NA12874,NA12878,NA12892,NA18499,NA18501,NA18502,NA18507,NA18508,NA18523,NA18853,NA18871,NA19093,NA19108,NA19143,NA19147,NA19172,NA19257 esv273239 8 142937936 142938018 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582235,essv2583238 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv397374 8 142950926 142951011 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415952 M 24 "" esv22128 8 142951078 142953818 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10710 S 451 1 0 "" NA06985 nsv891601 8 143027861 143154438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533762 S 6533 0 1 "" MS11306 dgv7908n71 8 143027861 143299436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891603,nsv891602 M 6533 0 2 LINC00051,MIR4472-1,TSNARE1 MS13095,MS16153 nsv509288 8 143037137 143128693 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620917,nssv619543 M 4 2 0 "" NA10860,NA15510 esv23504 8 143061501 143064148 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11107 S 451 0 1 "" NA11993 esv996440 8 143061556 143063803 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586613 S 3 0 1 "" HuRef esv2085475 8 143062951 143063362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4869958 S 1 0 1 "" NA18507 esv1001244 8 143063328 143064235 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587000 S 3 0 1 "" HuRef nsv891604 8 143073127 143683997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538627 S 6533 0 1 BAI1,LINC00051,MIR4472-1,TSNARE1 MS13770 esv2141448 8 143073764 143074360 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963224 S 1 0 1 "" NA18507 esv268875 8 143075570 143075655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516300 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv891605 8 143085094 143184620 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530623 S 6533 0 1 "" MS10311 nsv512974 8 143091825 143092023 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625628 S 1 1 0 "" 1 esv2476694 8 143091947 143092691 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217520 S 1 1 0 "" NA18507 nsv891606 8 143093343 143114241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504165 S 6533 0 1 "" SP52270 nsv891607 8 143101305 143154438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585883 S 6533 0 1 "" IS37646 esv1414246 8 143129275 143129275 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157653 S 2 1 0 "" HuRef esv1063316 8 143129309 143129309 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366989 S 2 1 0 "" HuRef esv2067732 8 143140096 143140524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4638497 S 1 0 1 "" NA18507 esv1008949 8 143140264 143140353 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580408 S 3 0 1 "" HuRef nsv396975 8 143140331 143140420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415553 M 24 "" esv2625027 8 143161241 143163198 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308617 S 1 0 1 "" NA18507 nsv398080 8 143175940 143175940 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416658 M 24 "" esv25555 8 143180403 143181108 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12153 S 451 0 1 "" NA18916 nsv891608 8 143188178 143245585 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530624 S 6533 0 1 "" MS10311 esv1993512 8 143189514 143189900 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787386 S 1 0 1 "" NA18507 esv8064 8 143200271 143203562 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30505 S 1 0 0 "" SJK dgv7909n71 8 143201573 143321016 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891610,nsv891609 M 6533 0 2 LINC00051,MIR4472-1,TSNARE1 MS17208,MS18276 nsv891611 8 143220109 143299436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592210 S 6533 0 1 LINC00051,MIR4472-1,TSNARE1 IS39233 dgv70n64 8 143231219 143232830 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818661,nsv818660 M 112 0 2 "" NA18968,NA18971 nsv818662 8 143231219 143245585 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417290 S 112 0 1 "" NA18608 esv21496 8 143241346 143243826 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13188 S 451 1 0 "" NA06985 esv2915 8 143243289 143243832 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25356 S 1 0 1 Single Asian sample YH "" YH esv1781623 8 143243700 143243700 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638244 S 2 1 0 "" HuRef nsv396920 8 143243770 143243770 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415498 M 24 "" nsv509289 8 143257103 143338545 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619544,nssv623552 M 4 2 0 LINC00051,TSNARE1 NA10860,NA18994 nsv512975 8 143264925 143265141 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625629 S 1 1 0 "" 1 nsv891612 8 143276606 143609151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567130 S 6533 0 1 BAI1,LINC00051,TSNARE1 IS31045 esv2360167 8 143306032 143306522 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4834197 S 1 0 1 TSNARE1 NA18507 esv4332 8 143306203 143306433 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26773 S 1 0 1 Single Asian sample YH TSNARE1 YH esv2165770 8 143306389 143306820 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859070 S 1 0 1 TSNARE1 NA18507 nsv465984 8 143321016 143392115 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541645 S 1557 0 1 TSNARE1 1780862444_A esv29885 8 143321169 143321617 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9857 S 451 1 0 TSNARE1 NA18502 esv273375 8 143327013 143327174 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580151,essv2578950 M 7 2 0 Samples from several populations that are part of the HapMap project. TSNARE1 NA12878,NA19239 esv267466 8 143327030 143327146 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511005,essv2496671,essv2495264,essv2505496,essv2495838,essv2508888,essv2494265,essv2509739,essv2496414,essv2494733,essv2505944,essv2513288,essv2504921,essv2503534,essv2502428,essv2512283,essv2493020,essv2500529,essv2505663,essv2506640,essv2509651,essv2499606,essv2501738 M 157 23 0 Samples from several populations that are part of the HapMap project. TSNARE1 NA11831,NA11894,NA11992,NA12154,NA12489,NA12878,NA18502,NA18508,NA18510,NA18519,NA18861,NA18907,NA18942,NA18947,NA18948,NA18949,NA18951,NA18956,NA19005,NA19108,NA19129,NA19225,NA19239 esv1000488 8 143332737 143332797 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577290 S 3 0 1 TSNARE1 HuRef esv1113323 8 143332811 143332872 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4296209 S 2 0 1 TSNARE1 HuRef nsv510175 8 143340122 143346122 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624073 S 4 0 1 TSNARE1 NA18994 nsv891613 8 143345150 143406692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575060 S 6533 0 1 TSNARE1 IS33684 esv1259156 8 143351914 143351914 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3901311 S 2 1 0 TSNARE1 HuRef nsv824754 8 143353028 143377991 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441251 S 31 1 0 TSNARE1 NA18547 nsv465985 8 143360944 143401600 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541646 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSNARE1 HGDP00438 nsv891614 8 143362121 143579855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533763 S 6533 0 1 BAI1,TSNARE1 MS11306 esv1035238 8 143362848 143362848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905843 S 2 1 0 TSNARE1 HuRef esv1527734 8 143366919 143366919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693271 S 2 1 0 TSNARE1 HuRef nsv465986 8 143388522 143414319 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541647 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSNARE1 HGDP00832 esv23184 8 143395378 143396678 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18058 S 451 0 1 TSNARE1 NA15510 esv33359 8 143395422 143396265 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101417,essv97943 M 51 2 0 TSNARE1 21805,21837 nsv465987 8 143403196 143456740 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541648 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations TSNARE1 HGDP00774 esv1364719 8 143427900 143427900 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3611476 S 2 1 0 TSNARE1 HuRef nsv396730 8 143429411 143429461 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415308 M 24 TSNARE1 nsv891615 8 143456740 143515902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522766 S 6533 1 0 TSNARE1 SP53413 dgv2262e1 8 143460347 143679430 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20524,esv1309 M 271 0 0 BAI1,TSNARE1 NA12716 esv24772 8 143469766 143470701 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15835 S 451 0 1 TSNARE1 NA19114 nsv8393 8 143481293 143484232 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19302 S 31 1 0 Samples from several populations that are part of the HapMap project. TSNARE1 NA18502 nsv891616 8 143513065 143577888 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534429 S 6533 0 1 BAI1 MS11579 nsv891617 8 143513065 143609151 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564421 S 6533 1 0 BAI1 IS30210 dgv7910n71 8 143513065 143877070 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891623,nsv891618 M 6533 0 2 ARC,BAI1,C8orf55,JRK,LOC100288181,LY6D,LY6K,LYNX1,LYPD2,PSCA,SLURP1 IS37646,MS13095 esv4957 8 143513425 143513941 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27398 S 1 0 1 Single Asian sample YH "" YH esv6363 8 143513547 143513893 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28804 S 1 0 1 "" SJK dgv7911n71 8 143515902 143634461 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891621,nsv891619,nsv891620 M 6533 0 4 BAI1 IS33504,IS39233,MS10311,MS17208 nsv891622 8 143525513 143634461 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589921,nssv1575061 M 6533 1 1 BAI1 IS33684,IS38430 dgv7912n71 8 143532191 143634461 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891624,nsv891625 M 6533 0 2 BAI1 MS18276,SP54956 nsv824755 8 143556818 143557441 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434152 S 31 0 1 BAI1 NA18592 esv1969642 8 143561607 143561960 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4513034 S 1 0 1 BAI1 NA18507 nsv824756 8 143573221 143575178 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436801 S 31 1 0 BAI1 NA18542 nsv470245 8 143577888 143713032 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546803,nssv546804,nssv546802 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ARC,BAI1 HGDP00543,HGDP00661,HGDP00825 esv2202647 8 143579648 143580115 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4757654 S 1 0 1 BAI1 NA18507 esv8650 8 143580671 143580868 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31091 S 1 0 1 BAI1 SJK esv8930 8 143598716 143598788 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31371 S 1 0 1 BAI1 SJK esv1010740 8 143631138 143641026 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564679 S 3 0 1 "" HuRef nsv6436 8 143631938 143654534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv783 S 9 1 0 "" NA19240 esv1005522 8 143638558 143638742 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568449 S 3 0 1 "" HuRef nsv891626 8 143640577 143704475 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572540 S 6533 1 0 ARC IS33129 nsv891627 8 143643001 143683997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529817 S 6533 0 1 "" MS10123 dgv7913n71 8 143643001 143704475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891629,nsv891628 M 6533 0 5 ARC IS33684,MS10769,MS11237,MS11306,MS17208 dgv7914n71 8 143643001 143763635 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891631,nsv891630,nsv891632 M 6533 0 3 ARC,JRK,PSCA IS30369,IS33162,IS35484 dgv7915n71 8 143643001 143909842 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891633,nsv891636 M 6533 0 2 ARC,C8orf55,JRK,LOC100288181,LY6D,LY6K,LYNX1,LYPD2,PSCA,SLURP1 IS33504,IS39233 dgv904n27 8 143650366 143691186 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465990,nsv465989 M 1557 0 2 ARC HGDP00607,HGDP00619 nsv818663 8 143653023 143678903 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417291 S 112 0 1 "" NA18608 esv2465164 8 143667738 143668171 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215124 S 1 0 1 "" NA18507 dgv7916n71 8 143672224 143762887 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891634,nsv891635 M 6533 0 2 ARC,JRK,PSCA IS32841,MS16153 esv1077239 8 143688394 143688394 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150100 S 2 1 0 "" HuRef esv1003764 8 143704016 143704703 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586804 S 3 0 1 "" HuRef esv2048950 8 143704341 143705044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4574114 S 1 0 1 "" NA18507 esv2551549 8 143704462 143706045 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351990 S 1 0 1 "" NA18507 nsv428207 8 143710403 143810538 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451595,nssv451594,nssv451597,nssv451599,nssv451600,nssv451596 M 62 1 5 C8orf55,JRK,LOC100288181,LY6K,PSCA HGDP00474,HGDP00476,NA18498,NA19113,NA19181,NA19189 nsv396450 8 143717704 143717775 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415028 M 24 "" nsv891637 8 143736022 143748866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509920,nssv1510765 M 6533 0 2 JRK,PSCA SP54956,SP54988 nsv831485 8 143746092 143852945 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447511 S 95 0 1 C8orf55,JRK,LOC100288181,LY6K,LYNX1,LYPD2,PSCA,SLURP1 esv1920240 8 143752588 143752958 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4992367 S 1 0 1 PSCA NA18507 nsv891638 8 143754039 143864907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577831 S 6533 0 1 C8orf55,LOC100288181,LY6D,LY6K,LYNX1,LYPD2,PSCA,SLURP1 IS34573 nsv831486 8 143762931 143916668 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447512 S 95 1 0 C8orf55,GML,LOC100288181,LY6D,LY6K,LYNX1,LYPD2,SLURP1 nsv891639 8 143763855 143864907 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554833 S 6533 1 0 C8orf55,LOC100288181,LY6D,LY6K,LYNX1,LYPD2,SLURP1 MS21020 nsv824757 8 143774565 143802862 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438965 S 31 1 0 LOC100288181,LY6K NA18973 esv1008011 8 143775774 143784730 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564801 S 3 0 1 LOC100288181,LY6K HuRef dgv7917n71 8 143795271 143898989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891643,nsv891641,nsv891640,nsv891642 M 6533 0 5 C8orf55,LOC100288181,LY6D,LYNX1,LYPD2,SLURP1 IS30369,IS34304,IS35484,MS10769,SP50159 esv24607 8 143821318 143824248 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12393 S 451 2 0 "" NA06985,NA12044 dgv7918n71 8 143827361 143917299 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891644,nsv891645 M 6533 0 2 GML,LY6D,LYNX1,LYPD2 MS10311,MS18276 esv1005970 8 143833190 143833258 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572842 S 3 0 1 "" HuRef esv1004846 8 143833259 143833330 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573986 S 3 0 1 "" HuRef esv1040287 8 143833267 143833339 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320490 S 2 0 1 "" HuRef esv24099 8 143838184 143839761 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20763 S 451 1 10 "" NA07037,NA11931,NA11995,NA12156,NA12489,NA12776,NA12828,NA12878,NA15510,NA18861,NA18907 esv1426902 8 143839112 143839259 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714535 S 2 0 1 "" HuRef esv1203581 8 143839284 143839333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783905 S 2 0 1 "" HuRef nsv891646 8 143848424 143868389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508619 S 6533 0 1 LY6D,LYNX1 SP54725 esv33000 8 143848902 143850157 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101322 S 51 1 0 LYNX1 21805 nsv824758 8 143852273 143868881 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441262 S 31 1 0 LY6D,LYNX1 NA18547 nsv396254 8 143855797 143855890 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414832 M 24 LYNX1 nsv824759 8 143856128 143856651 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423564 S 31 1 0 LYNX1 NA18999 nsv528545 8 143903890 143917299 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705157 S 2026 0 1 GML esv992821 8 143905685 143912452 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564893 S 3 0 1 "" HuRef nsv891647 8 143917342 143981882 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553080 S 6533 0 1 CYP11B1,GML MS19721 nsv520940 8 143923929 143951225 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679788,nssv678107 M 2026 2 0 CYP11B1,GML nsv482123 8 143950777 143958238 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558484 S 1 1 0 CYP11B1 KB1 nsv470246 8 143951225 144005183 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546805 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYP11B1,CYP11B2 HGDP01412 esv991235 8 143956174 143994207 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578123 S 3 0 1 CYP11B1,CYP11B2 HuRef nsv436586 8 143956234 143993081 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466497 S 2 0 1 Samples from several populations that are part of the HapMap project. CYP11B1,CYP11B2 NA18505 nsv891648 8 143956274 143991157 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500304 S 6533 0 1 CYP11B1,CYP11B2 SP50102 esv28900 8 143976270 143977203 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15678 S 451 4 1 "" NA12878,NA15510,NA18505,NA18858,NA19147 nsv821537 8 143976270 143977203 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420787 S 1 0 1 "" NA10851 nsv521110 8 144004941 144005183 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682364,nssv693923 M 2026 0 2 "" esv2634488 8 144126959 144128825 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5229568 S 1 0 1 "" NA18507 esv1006425 8 144127707 144128467 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586064 S 3 0 1 "" HuRef esv28645 8 144127787 144128467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19530 S 451 0 14 "" NA07037,NA11931,NA12156,NA12749,NA12878,NA18505,NA18517,NA18909,NA18916,NA19099,NA19108,NA19129,NA19225,NA19240 esv1162066 8 144127860 144127860 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758469 S 2 1 0 "" HuRef esv1354914 8 144127953 144128387 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259382 S 2 0 1 "" HuRef esv1152944 8 144128458 144128520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630177 S 2 0 1 "" HuRef esv2295743 8 144129443 144129880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4768104 S 1 0 1 "" NA18507 nsv395856 8 144129629 144129828 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414434 M 24 "" esv1444836 8 144129651 144129701 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156925 S 2 0 1 "" HuRef esv2204670 8 144167190 144167632 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4858361 S 1 0 1 LOC100133669 NA18507 nsv465991 8 144173868 144236804 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541651 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf31,LY6E HGDP00949 esv25583 8 144188813 144193250 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12284 S 451 0 1 C8orf31 NA18517 nsv512976 8 144191155 144192204 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625630 S 1 1 0 C8orf31 1 esv33872 8 144191422 144192676 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96107 S 51 1 0 C8orf31 22007 esv1451224 8 144193460 144193460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4053803 S 2 1 0 C8orf31 HuRef nsv891650 8 144195887 144366148 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557507 S 6533 1 0 C8orf31,LY6H MS22728 nsv6437 8 144203816 144238531 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1774,nssv6262,nssv784 M 9 3 0 C8orf31 NA12156,NA18555,NA19240 dgv7919n71 8 144218122 144308256 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891651,nsv891652 M 6533 0 2 "" IS33504,MS16153 esv28098 8 144224990 144226795 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15322 S 451 2 25 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12749,NA12776,NA12878,NA15510,NA18505,NA18508,NA18523,NA18861,NA18916,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 esv1349612 8 144225849 144225849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154720 S 2 1 0 "" HuRef esv1269986 8 144225986 144225986 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938072 S 2 1 0 "" HuRef nsv524696 8 144240466 144246305 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700675 S 2026 0 1 "" nsv891653 8 144250835 144330080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534714 S 6533 0 1 LY6H MS11726 nsv891654 8 144250835 144380970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546680 S 6533 0 1 GPIHBP1,LY6H MS17208 nsv528834 8 144263833 144273229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705509 S 2026 0 1 "" dgv7920n71 8 144273229 144655923 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891662,nsv891655,nsv891657,nsv891659 M 6533 0 5 C8orf51,GLI4,GPIHBP1,LY6H,MAFA,RHPN1,TOP1MT,ZC3H3,ZFP41,ZNF696 IS32737,IS33684,MS10311,MS10769,MS16153 esv2218018 8 144295314 144295699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545142 S 1 0 1 "" NA18507 nsv891656 8 144300478 144436949 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557265 S 6533 1 0 GLI4,GPIHBP1,LY6H,ZFP41 MS22568 nsv824760 8 144310695 144319042 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441273 S 31 1 0 LY6H NA18547 esv1005907 8 144317391 144322328 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586629 S 3 1 0 "" HuRef esv23709 8 144319421 144321518 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18651 S 451 3 0 "" NA12776,NA18505,NA18858 esv2427217 8 144334724 144335409 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5179985 S 1 1 0 "" NA18507 esv1266570 8 144334953 144334953 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4102792 S 2 1 0 "" HuRef nsv465992 8 144337489 144406670 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541652 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPIHBP1,ZFP41 HGDP01215 dgv7921n71 8 144337489 144563279 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891658,nsv891665,nsv891661,nsv891663 M 6533 0 4 C8orf51,GLI4,GPIHBP1,RHPN1,TOP1MT,ZFP41,ZNF696 IS39417,MS13095,MS18276,SP54988 nsv6438 8 144347821 144383961 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11199,nssv8571 M 9 2 0 GPIHBP1 NA12156,NA15510 nsv41 8 144354955 144383961 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv41 S 1 1 0 GPIHBP1 NA15510 nsv891660 8 144356084 144436949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538628 S 6533 0 1 GLI4,GPIHBP1,ZFP41 MS13770 esv24982 8 144364069 144365143 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15861 S 451 5 0 "" NA06985,NA12044,NA12156,NA15510,NA18916 nsv511400 8 144364262 144366148 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626007 S 1 1 0 "" 1 esv7219 8 144365341 144369462 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29660 S 1 0 0 GPIHBP1 SJK esv989196 8 144366839 144366895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578637 S 3 0 1 GPIHBP1 HuRef esv1226398 8 144366870 144366927 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330710 S 2 0 1 GPIHBP1 HuRef nsv395807 8 144371259 144371875 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414385 M 24 "" nsv891664 8 144372721 144401229 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507800 S 6533 1 0 ZFP41 SP54725 esv2884 8 144373114 144373609 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25325 S 1 0 1 Single Asian sample YH "" YH esv1008726 8 144373394 144373516 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568837 S 3 0 1 "" HuRef esv1401038 8 144383212 144383261 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674478 S 2 0 1 "" HuRef dgv7922n71 8 144395067 144554846 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891670,nsv891666,nsv891667 M 6533 0 3 C8orf51,GLI4,RHPN1,TOP1MT,ZFP41,ZNF696 IS33797,IS34235,MS13727 nsv512977 8 144396828 144397045 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625631 S 1 1 0 "" 1 dgv7923n71 8 144410428 144458860 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891668,nsv891672 M 6533 0 2 GLI4,ZFP41,ZNF696 SP54043,SP55021 nsv891669 8 144410428 144492305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544258 S 6533 0 1 GLI4,TOP1MT,ZFP41,ZNF696 MS16315 nsv891671 8 144410428 144655923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574590 S 6533 0 1 C8orf51,GLI4,MAFA,RHPN1,TOP1MT,ZC3H3,ZFP41,ZNF696 IS33601 nsv470247 8 144436948 144768796 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546807,nssv546813,nssv546806,nssv546815,nssv546808,nssv546817,nssv546816,nssv546812,nssv546814,nssv546811,nssv546818 M 443 0 11 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf51,C8orf73,EEF1D,GSDMD,MAFA,NAPRT1,PYCRL,RHPN1,TIGD5,TOP1MT,TSTA3,ZC3H3,ZNF696 HGDP00288,HGDP00290,HGDP00298,HGDP00302,HGDP00543,HGDP00546,HGDP00550,HGDP00556,HGDP00624,HGDP00960,HGDP00978 nsv891673 8 144436949 144480156 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576908 S 6533 0 1 TOP1MT,ZNF696 IS34304 nsv891674 8 144436949 144604373 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565164 S 6533 0 1 C8orf51,MAFA,RHPN1,TOP1MT,ZC3H3,ZNF696 IS30369 esv33151 8 144447276 144448878 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101624,essv92708,essv96157 M 51 3 0 ZNF696 21909,21944,22007 esv28871 8 144457712 144459342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11958 S 451 0 1 "" NA18517 esv1586739 8 144460672 144460672 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3703447 S 2 1 0 "" HuRef esv29510 8 144460708 144462158 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11098 S 451 1 0 "" NA18909 esv2147503 8 144469910 144470284 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4714823 S 1 0 1 TOP1MT NA18507 esv3543 8 144469945 144470334 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25984 S 1 0 1 Single Asian sample YH TOP1MT YH esv1002171 8 144469968 144470073 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573883 S 3 0 1 TOP1MT HuRef esv1306243 8 144469968 144470074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323417 S 2 0 1 TOP1MT HuRef esv1001481 8 144469968 144470126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571702 S 3 0 1 TOP1MT HuRef nsv891675 8 144473221 144588803 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511404 S 6533 0 1 C8orf51,MAFA,RHPN1,TOP1MT SP55021 esv1540362 8 144475179 144475179 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169404 S 2 1 0 TOP1MT HuRef esv1753050 8 144475210 144475210 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961425 S 2 1 0 TOP1MT HuRef esv1662735 8 144475379 144475379 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3822323 S 2 1 0 TOP1MT HuRef nsv891676 8 144477049 144793335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585885 S 6533 0 1 C8orf51,C8orf73,EEF1D,GSDMD,MAFA,NAPRT1,PYCRL,RHPN1,TIGD5,TOP1MT,TSTA3,ZC3H3,ZNF623 IS37646 nsv891677 8 144480156 144553999 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572783 S 6533 0 1 C8orf51,RHPN1,TOP1MT IS33178 nsv891678 8 144484791 144579911 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567428 S 6533 1 0 C8orf51,RHPN1,TOP1MT IS31081 esv1659436 8 144495725 144495725 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3881930 S 2 1 0 "" HuRef dgv7924n71 8 144505931 144746191 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891684,nsv891679,nsv891683 M 6533 0 3 C8orf51,C8orf73,EEF1D,GSDMD,MAFA,NAPRT1,RHPN1,ZC3H3 IS32888,IS39233,MS11237 dgv7925n71 8 144512231 144598048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891680,nsv891681 M 6533 0 2 C8orf51,MAFA,RHPN1,ZC3H3 IS40799,MS17208 nsv891682 8 144512231 144637048 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576261 S 6533 0 1 C8orf51,MAFA,RHPN1,ZC3H3 IS34005 nsv891685 8 144515584 144546567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505977 S 6533 0 1 C8orf51,RHPN1 SP54043 nsv824761 8 144521869 144522307 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437573 S 31 1 0 C8orf51 NA18949 esv28774 8 144525706 144527300 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14826,esv11720 M 451 0 5 RHPN1 NA11993,NA18505,NA18508,NA19108,NA19225 nsv397650 8 144527055 144527055 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416228 M 24 RHPN1 esv2927 8 144530051 144530361 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25368 S 1 0 1 Single Asian sample YH RHPN1 YH dgv7926n71 8 144555816 144639518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891690,nsv891686,nsv891691,nsv891692 M 6533 0 4 MAFA,ZC3H3 IS30835,IS34235,MS11306,MS13770 nsv891687 8 144555816 144684227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570741 S 6533 0 1 MAFA,ZC3H3 IS32322 dgv7927n71 8 144563279 144598048 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891689,nsv891688 M 6533 0 2 MAFA,ZC3H3 SP51109,SP54956 dgv7928n71 8 144563279 144785990 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891693,nsv891699 M 6533 0 2 C8orf73,EEF1D,GSDMD,MAFA,NAPRT1,PYCRL,TIGD5,TSTA3,ZC3H3 IS33504,IS35484 nsv512978 8 144564141 144564318 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625632 S 1 1 0 "" 1 dgv7929n71 8 144572492 144639518 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891694,nsv891697,nsv891698,nsv891695 M 6533 0 5 MAFA,ZC3H3 IS31980,IS38403,IS39258,IS41634,MS13095 nsv891696 8 144574060 144619949 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514692 S 6533 0 1 MAFA,ZC3H3 SP56047 dgv1199n67 8 144581247 144581994 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824762,nsv824763 M 31 2 0 MAFA NA18949,NA18968 nsv824765 8 144581371 144585440 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433780 S 31 1 0 MAFA NA18526 nsv831487 8 144587890 144673902 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447513 S 95 1 0 ZC3H3 dgv7930n71 8 144591290 144742093 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891704,nsv891701,nsv891700 M 6533 0 4 C8orf73,EEF1D,GSDMD,NAPRT1,ZC3H3 IS33248,IS33630,MS11726,MS17208 nsv824766 8 144596425 144615266 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438966 S 31 1 0 ZC3H3 NA18973 esv1091073 8 144611764 144611843 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180737 S 2 0 1 ZC3H3 HuRef dgv7931n71 8 144614303 144703129 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891702,nsv891703,nsv891708 M 6533 0 3 ZC3H3 IS32737,MS10769,MS16315 dgv7932n71 8 144614303 144793335 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891717,nsv891709,nsv891706,nsv891705,nsv891710,nsv891713,nsv891707 M 6533 0 9 C8orf73,EEF1D,GSDMD,NAPRT1,PYCRL,TIGD5,TSTA3,ZC3H3,ZNF623 IS30369,IS33455,IS34304,IS37172,IS39417,MS10311,MS11306,MS16153,MS18276 nsv465993 8 144625874 144650385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541653 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZC3H3 HGDP00772 nsv891711 8 144628179 144684227 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589922 S 6533 1 0 ZC3H3 IS38430 dgv905n27 8 144630308 144686338 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv465996,nsv465995 M 1557 0 2 ZC3H3 HGDP00864,NINDS_111 esv998186 8 144635487 144645566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565338 S 3 0 1 ZC3H3 HuRef esv2611442 8 144639906 144642058 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315606 S 1 0 1 ZC3H3 NA18507 dgv7933n71 8 144641054 144764982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891719,nsv891712,nsv891714,nsv891718,nsv891715 M 6533 0 5 C8orf73,EEF1D,GSDMD,NAPRT1,PYCRL,TIGD5,ZC3H3 IS32841,IS35007,IS40396,IS41243,SP54956 nsv891716 8 144645254 144734218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564422 S 6533 1 0 C8orf73,EEF1D,GSDMD,NAPRT1,ZC3H3 IS30210 dgv259n6 8 144674700 144674768 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv398362,nsv396982 M 24 ZC3H3 esv1005132 8 144674704 144674768 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580814 S 3 0 1 ZC3H3 HuRef nsv891720 8 144685060 144746191 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572641 S 6533 0 1 C8orf73,EEF1D,GSDMD,NAPRT1,ZC3H3 IS33162 dgv7934n71 8 144685060 144796206 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891721,nsv891731 M 6533 0 2 C8orf73,EEF1D,GSDMD,NAPRT1,PYCRL,TIGD5,TSTA3,ZC3H3,ZNF623 IS38144,IS38388 nsv516210 8 144686338 144768796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683035,nssv680783,nssv671277,nssv684285,nssv662894,nssv688537,nssv673102,nssv697287,nssv662870,nssv656600,nssv656372,nssv677886,nssv679976,nssv680459,nssv701314,nssv657960,nssv655982,nssv677040,nssv682249,nssv678918,nssv666839,nssv680416,nssv660204,nssv655075,nssv679311,nssv669057,nssv679483,nssv689298,nssv669128,nssv661241,nssv688015,nssv680102,nssv671663,nssv685503 M 2026 0 34 C8orf73,EEF1D,GSDMD,NAPRT1,PYCRL,TIGD5,TSTA3,ZC3H3 esv29963 8 144691326 144707415 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84202 S 2 0 1 GSDMD,ZC3H3 HuRef nsv470248 8 144703129 144735737 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546819 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf73,EEF1D,GSDMD,NAPRT1 HGDP00919 nsv891722 8 144703129 144740535 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570742 S 6533 0 1 C8orf73,EEF1D,GSDMD,NAPRT1 IS32322 dgv7935n71 8 144703129 145339988 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891742,nsv891759,nsv891754,nsv891723 M 6533 0 4 BREA2,C8orf73,CCDC166,CYC1,EEF1D,EPPK1,EXOSC4,FAM203A,FAM83H,GPAA1,GRINA,GSDMD,HEATR7A,KIAA1875,LOC100128338,MAF1,MAPK15,MIR4664,MIR661,MIR937,NAPRT1,NRBP2,OPLAH,PARP10,PLEC,PUF60,PYCRL,SCRIB,SHARPIN,SPATC1,TIGD5,TSTA3,ZNF623,ZNF707 IS30369,IS33504,IS33797,MS10769 nsv466000 8 144704699 144735737 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541657 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf73,EEF1D,GSDMD,NAPRT1 HGDP00491 dgv7936n71 8 144704699 144766033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891726,nsv891728,nsv891724,nsv891729,nsv891735,nsv891725,nsv891732 M 6533 0 7 C8orf73,EEF1D,GSDMD,NAPRT1,PYCRL,TIGD5,TSTA3 IS33239,IS34057,IS34458,IS39320,IS40502,SP51109,SP54725 dgv7937n71 8 144704699 144780417 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891727,nsv891738,nsv891736,nsv891730 M 6533 0 11 C8orf73,EEF1D,GSDMD,NAPRT1,PYCRL,TIGD5,TSTA3 IS32737,IS33361,IS34235,IS38538,IS39258,IS41410,MS10698,MS13727,MS16315,MS17208,MS17825 dgv1200n67 8 144705086 144707201 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824768,nsv824769,nsv824767 M 31 0 5 GSDMD AK20,NA18537,NA18547,NA18582,NA18947 esv4204 8 144705118 144707560 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26645 S 1 0 1 Single Asian sample YH GSDMD YH esv9611 8 144705198 144707380 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32052 S 1 0 1 GSDMD SJK esv27296 8 144705451 144707391 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17825 S 451 0 2 GSDMD NA06985,NA12776 esv1175692 8 144710627 144710627 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3655789 S 2 1 0 GSDMD HuRef nsv824770 8 144713846 144732769 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441296 S 31 1 0 C8orf73,GSDMD,NAPRT1 NA18547 nsv891733 8 144714312 144732707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510767 S 6533 0 1 C8orf73,GSDMD,NAPRT1 SP54988 nsv891734 8 144714312 144756321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507430 S 6533 0 1 C8orf73,EEF1D,GSDMD,NAPRT1,TIGD5 SP54672 nsv891737 8 144719785 144785990 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580355 S 6533 1 0 C8orf73,EEF1D,NAPRT1,PYCRL,TIGD5,TSTA3 IS35279 nsv466004 8 144734804 144793335 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541658 S 1557 0 1 EEF1D,PYCRL,TIGD5,TSTA3,ZNF623 NINDS_50 nsv891739 8 144738103 144764982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510505 S 6533 0 1 EEF1D,PYCRL,TIGD5 SP54967 nsv831488 8 144743767 144838602 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447516,nssv1447514,nssv1447515 M 95 0 3 EEF1D,PYCRL,TIGD5,TSTA3,ZNF623 nsv824771 8 144749614 144754579 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433781 S 31 1 0 EEF1D,TIGD5 NA18526 esv26007 8 144750735 144752627 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16844 S 451 0 1 EEF1D,TIGD5 NA07045 nsv6439 8 144759832 144804595 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10647,nssv3698,nssv11200,nssv5139 M 9 0 4 PYCRL,TSTA3,ZNF623 NA12878,NA15510,NA18956,NA19129 nsv42 8 144763913 144788813 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv42 S 1 0 1 TSTA3 NA15510 dgv132n16 8 144770574 144786257 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436592,nsv435867 M 2 0 2 TSTA3 NA15510,NA18505 dgv59n50 8 144770639 144785990 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512077,nsv511401 M 1 0 1 TSTA3 1 dgv1201n67 8 144771298 144786031 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824773,nsv824772 M 31 0 19 "" AK10,AK12,AK16,AK18,AK20,NA18526,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv820409 8 144771298 144786031 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420788 S 1 0 1 "" NA10851 nsv8394 8 144771440 144786099 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19332,nssv17823,nssv17808,nssv19941,nssv20564,nssv17826,nssv18208,nssv16552,nssv17455 M 31 7 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA10863,NA18502,NA18517,NA18564,NA18860,NA18942,NA18980,NA19144 esv3242 8 144771597 144785929 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25683 S 1 0 1 Single Asian sample YH "" YH esv7438 8 144771623 144785843 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29879 S 1 0 1 "" SJK dgv58n47 8 144771627 144785839 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499212,nsv499088 M 9 0 2 "" esv988768 8 144771634 144785831 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586507 S 3 1 0 "" HuRef esv26015 8 144771634 144785886 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17271 S 451 22 2 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12044,NA12156,NA12414,NA12489,NA12749,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv515074 8 144771984 144782752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628000 S 1414 0 1 "" esv2422019 8 144772135 144780417 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5084491,essv5030951,essv5128492,essv5095909,essv5113967,essv5074061,essv5067986,essv5123154,essv5128425,essv5085287,essv5116213,essv5037003,essv5072113,essv5116733,essv5043746,essv5065064,essv5029215,essv5019658,essv5157419,essv5049559,essv5003834,essv5096462,essv5025543,essv5071120,essv5066292,essv5071201,essv5112824,essv5078680,essv5088871,essv5070395,essv5134953,essv5069432,essv5047317,essv5135683,essv5137344,essv5029934,essv5070484,essv5058894,essv5073023,essv5028954,essv5131545,essv5110978,essv5148899,essv5016016,essv5079300,essv5110617,essv5024510,essv5114771,essv5102086,essv5107879,essv5130112,essv5028862,essv5029495,essv5077982,essv5046215,essv5120125,essv5007584,essv5045555,essv5039781,essv5071514,essv5145349,essv5033523,essv5072333,essv5130904,essv5013601,essv5026946,essv5043041,essv5016836,essv5143017,essv5134868,essv5099890,essv5034797,essv5118007,essv5133282,essv5093310,essv5126397,essv5076360,essv5077748,essv5151541,essv5129764,essv5019283,essv5044440,essv5140987,essv5099985,essv5108746,essv5111427,essv5146904,essv5160814,essv5049419,essv5135075,essv5018728,essv5040674,essv5093509,essv5140602,essv5099801,essv5127950,essv5078253,essv5041411,essv5133234,essv5029384,essv5039398,essv5073221,essv5115852,essv5033833,essv5128069,essv5140375,essv5073566,essv5016926,essv5087084,essv5099625,essv5108210,essv5083971,essv5026233,essv5089930,essv5131580,essv5135014,essv5048800,essv5130304,essv5123864,essv5128361,essv5004382,essv5057416,essv5125110,essv5145664,essv5027190,essv5146752,essv5121132,essv5083547,essv5139965,essv5124155,essv5098849,essv5090951,essv5033996,essv5036649,essv5112503,essv5016149,essv5097455,essv5025876,essv5132060,essv5016939,essv5048185,essv5156966,essv5041501,essv5069659,essv5045731,essv5013321,essv5046276,essv5010926,essv5010743,essv5014216,essv5050927,essv5100558,essv5124318,essv5016515,essv5099321,essv5112986,essv5071883,essv5016541,essv5025157,essv5042015,essv5117286,essv5033655,essv5155655,essv5034069,essv5037290,essv5070476,essv5142715,essv5042220,essv5003734,essv5127418,essv5136424,essv5141754,essv5031049,essv5054394,essv5060559,essv5056538,essv5118866,essv5079382,essv5030995,essv5078029,essv5017752,essv5074342,essv5043076,essv5029707,essv5048043,essv5013742,essv5051776,essv5101557,essv5090960,essv5006178,essv5075688,essv5113868,essv5065059,essv5149858,essv5044177,essv5072091,essv5138368,essv5120435,essv5156541,essv5058926,essv5148204,essv5047279,essv5075977,essv5015407,essv5104727,essv5120321,essv5119231,essv5157584,essv5151937,essv5155497,essv5034176,essv5058593,essv5134468,essv5024893,essv5101602,essv5123650,essv5120144,essv5063213,essv5056090,essv5117577,essv5075720,essv5099726,essv5152994,essv5139159,essv5100841,essv5075535,essv5158916,essv5004083,essv5048573,essv5109000,essv5010939,essv5056132,essv5157903,essv5097013,essv5077537,essv5097166,essv5104040,essv5087155,essv5121873,essv5085882,essv5138870,essv5041862,essv5022735,essv5153353,essv5016397,essv5120624,essv5139566,essv5004486,essv5156527,essv5054940,essv5076061,essv5127468,essv5044645,essv5158792,essv5033024,essv5097128,essv5070346,essv5118498,essv5035728,essv5100081,essv5120899,essv5008732,essv5061849,essv5009904,essv5149919,essv5041553,essv5067291,essv5070890,essv5133252,essv5075064,essv5107195,essv5038120,essv5145534,essv5056256,essv5147237,essv5090897,essv5102109,essv5047738,essv5023033,essv5046519,essv5007180,essv5137544,essv5092570,essv5065369,essv5109874,essv5101405,essv5044066,essv5012493,essv5062952,essv5156224,essv5039783,essv5003174,essv5097312,essv5093146,essv5143286,essv5143958,essv5137216,essv5115966,essv5088995,essv5056475,essv5049806,essv5049367,essv5002376,essv5160689,essv5158523,essv5154388,essv5128400,essv5106765,essv5094235,essv5101133,essv5131259,essv5053287,essv5120705,essv5088437,essv5065713,essv5109152,essv5156269,essv5151969,essv5002240,essv5095987,essv5032547,essv5109703,essv5126202,essv5032098,essv5051244,essv5021271,essv5123888,essv5019298,essv5026483,essv5006336,essv5016086,essv5036098,essv5141874,essv5153712,essv5028124,essv5026444,essv5078011,essv5018029,essv5160586,essv5145820,essv5077471,essv5159212,essv5053668,essv5048653,essv5071270,essv5103104,essv5114799,essv5006657,essv5038068,essv5111552,essv5123230,essv5136273,essv5046929,essv5033367,essv5042918,essv5016277,essv5067679,essv5042514,essv5114696,essv5028845,essv5071217,essv5025304,essv5043166,essv5074356,essv5135067,essv5004731,essv5110625,essv5132850,essv5018630,essv5104441,essv5098723,essv5108956,essv5091357,essv5154878,essv5098940,essv5024777,essv5057621,essv5059293,essv5125280,essv5121499,essv5154990,essv5048616,essv5082540,essv5097836,essv5094392,essv5045145,essv5123163,essv5080307,essv5065296,essv5136162,essv5033314,essv5140377,essv5143579,essv5120297,essv5047383,essv5012410,essv5030252,essv5098059,essv5056036,essv5099684,essv5138486,essv5067024,essv5115968,essv5056391,essv5115239,essv5064196,essv5122008,essv5009040,essv5105124,essv5146424,essv5123879,essv5049696,essv5119021,essv5031853,essv5119620,essv5036754,essv5131335,essv5076551,essv5102927,essv5108095,essv5109575,essv5080595,essv5023127,essv5122012,essv5142389,essv5058921,essv5021537,essv5091760,essv5112042,essv5036976,essv5037385,essv5077950,essv5116141,essv5039400,essv5086302,essv5056828,essv5036808,essv5146946,essv5029929,essv5092344,essv5087201,essv5094707,essv5107740,essv5096598,essv5043093,essv5133043,essv5074910,essv5099581,essv5043865,essv5116712,essv5107633,essv5117653,essv5009080,essv5126344,essv5035867,essv5033880,essv5013700,essv5028450,essv5036326,essv5065199,essv5021621,essv5068382,essv5055799,essv5095719,essv5152327,essv5129700,essv5064285,essv5090178,essv5134637,essv5040655,essv5059679,essv5053487,essv5069391,essv5050167,essv5156148,essv5027916,essv5112473,essv5118277,essv5028436,essv5117389,essv5049980,essv5113197,essv5152154,essv5062478,essv5063520,essv5155435,essv5020400,essv5083866,essv5095484,essv5087055,essv5154358,essv5126772,essv5008332,essv5128498,essv5047243,essv5046128,essv5046539,essv5151016,essv5008916,essv5135909,essv5048659,essv5133469,essv5060719,essv5042448,essv5148596,essv5095041,essv5160561,essv5073837,essv5066230,essv5082673,essv5115754,essv5110464,essv5127588,essv5139010,essv5088834,essv5132003,essv5073934,essv5063584,essv5129921,essv5093580,essv5044979,essv5006791,essv5082062 M 1184 0 523 "" NA06991,NA06993,NA06994,NA07022,NA07029,NA07051,NA07055,NA07056,NA07345,NA07346,NA07348,NA10830,NA10836,NA10837,NA10839,NA10840,NA10846,NA10847,NA10853,NA10856,NA10859,NA10861,NA11829,NA11830,NA11843,NA11881,NA11882,NA11917,NA11920,NA11992,NA11994,NA11995,NA12003,NA12005,NA12006,NA12056,NA12144,NA12145,NA12155,NA12239,NA12272,NA12275,NA12282,NA12286,NA12287,NA12336,NA12342,NA12344,NA12347,NA12348,NA12376,NA12386,NA12400,NA12489,NA12546,NA12740,NA12750,NA12752,NA12753,NA12760,NA12761,NA12763,NA12767,NA12776,NA12778,NA12828,NA12829,NA12832,NA12842,NA12843,NA12865,NA12875,NA12878,NA12891,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17988,NA17993,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18124,NA18125,NA18127,NA18128,NA18131,NA18132,NA18133,NA18134,NA18136,NA18138,NA18139,NA18141,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18162,NA18166,NA18486,NA18497,NA18499,NA18501,NA18503,NA18504,NA18505,NA18509,NA18510,NA18511,NA18519,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18544,NA18545,NA18546,NA18548,NA18558,NA18561,NA18562,NA18563,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18594,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18610,NA18611,NA18613,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18627,NA18628,NA18632,NA18633,NA18634,NA18636,NA18637,NA18638,NA18640,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18747,NA18749,NA18757,NA18853,NA18854,NA18867,NA18870,NA18872,NA18873,NA18875,NA18912,NA18913,NA18914,NA18916,NA18934,NA18939,NA18940,NA18942,NA18944,NA18946,NA18948,NA18949,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18979,NA18980,NA18981,NA18987,NA18991,NA18993,NA18995,NA18998,NA18999,NA19000,NA19001,NA19005,NA19007,NA19009,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19095,NA19097,NA19099,NA19102,NA19103,NA19117,NA19140,NA19143,NA19146,NA19147,NA19148,NA19149,NA19153,NA19174,NA19176,NA19179,NA19180,NA19190,NA19191,NA19198,NA19201,NA19204,NA19213,NA19215,NA19223,NA19239,NA19247,NA19248,NA19249,NA19257,NA19307,NA19316,NA19332,NA19347,NA19359,NA19376,NA19382,NA19390,NA19393,NA19403,NA19404,NA19431,NA19443,NA19445,NA19451,NA19468,NA19471,NA19472,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19657,NA19658,NA19659,NA19663,NA19664,NA19669,NA19671,NA19675,NA19676,NA19677,NA19678,NA19681,NA19684,NA19686,NA19704,NA19726,NA19746,NA19755,NA19759,NA19760,NA19761,NA19763,NA19770,NA19771,NA19772,NA19780,NA19781,NA19782,NA19783,NA19784,NA19794,NA19985,NA20127,NA20128,NA20284,NA20291,NA20292,NA20297,NA20300,NA20302,NA20319,NA20332,NA20333,NA20334,NA20336,NA20337,NA20340,NA20341,NA20343,NA20344,NA20345,NA20346,NA20347,NA20348,NA20349,NA20350,NA20359,NA20505,NA20506,NA20509,NA20512,NA20519,NA20520,NA20524,NA20538,NA20543,NA20586,NA20758,NA20759,NA20760,NA20769,NA20770,NA20790,NA20792,NA20797,NA20804,NA20805,NA20810,NA20812,NA20813,NA20818,NA20819,NA20826,NA20828,NA20845,NA20846,NA20847,NA20851,NA20852,NA20856,NA20861,NA20862,NA20866,NA20873,NA20874,NA20877,NA20879,NA20883,NA20884,NA20885,NA20890,NA20892,NA20894,NA20895,NA20898,NA20899,NA20902,NA20906,NA20907,NA20909,NA20910,NA21086,NA21089,NA21091,NA21092,NA21094,NA21100,NA21104,NA21105,NA21108,NA21111,NA21112,NA21116,NA21117,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21303,NA21312,NA21313,NA21314,NA21316,NA21318,NA21320,NA21355,NA21367,NA21385,NA21390,NA21414,NA21423,NA21425,NA21454,NA21493,NA21509,NA21510,NA21526,NA21527,NA21528,NA21529,NA21573,NA21577,NA21578,NA21587,NA21600,NA21620,NA21631,NA21632,NA21634,NA21636,NA21650,NA21678,NA21717,NA21741,NA21768 nsv442533 8 144776300 144778949 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv1008266 8 144785340 144785806 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586821 S 3 1 0 "" HuRef dgv1202n67 8 144785340 144785889 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824774,nsv824776 M 31 0 10 "" AK14,AK2,AK4,AK6,AK8,NA18537,NA18564,NA18947,NA18949,NA18973 esv33279 8 144785565 144785822 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94718,essv94355,essv95383,essv95926,essv92731,essv96676,essv92575,essv99315,essv100133 M 51 9 0 "" 21791,21808,21872,21911,21944,22011,22233,22275,22286 esv4725 8 144794691 144795199 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27166 S 1 0 1 Single Asian sample YH ZNF623 YH esv5538 8 144794754 144795078 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27979 S 1 0 1 ZNF623 SJK esv1406298 8 144794759 144795091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3870881 S 2 0 1 ZNF623 HuRef nsv6440 8 144798256 144831443 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5140 S 9 1 0 ZNF623 NA19129 esv26601 8 144814698 144815358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19137 S 451 0 9 "" NA06985,NA12239,NA18502,NA18517,NA18523,NA18916,NA19114,NA19147,NA19225 nsv821233 8 144814698 144815358 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420789 S 1 1 0 "" NA10851 esv1006788 8 144814757 144815292 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586227 S 3 1 0 "" HuRef esv1510018 8 144814771 144814771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227675 S 2 1 0 "" HuRef esv1440656 8 144814975 144814975 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966388 S 2 1 0 "" HuRef esv1052587 8 144815061 144815061 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3683962 S 2 1 0 "" HuRef nsv512078 8 144817666 144820391 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624632 S 1 0 1 "" 1 esv2533623 8 144818907 144821062 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256502 S 1 0 1 "" NA18507 esv22278 8 144819132 144820572 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21292 S 451 2 1 "" NA15510,NA18858,NA19099 nsv821388 8 144819132 144820572 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420790 S 1 0 1 "" NA10851 esv4908 8 144819163 144820533 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27349 S 1 0 1 Single Asian sample YH "" YH nsv397432 8 144820508 144820508 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416010 M 24 "" nsv820331 8 144822822 144824040 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420792 S 1 1 0 "" NA10851 esv28821 8 144822937 144823717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10750 S 451 0 11 "" NA06985,NA11995,NA12287,NA12878,NA18502,NA18508,NA18907,NA18909,NA19099,NA19225,NA19240 dgv7938n71 8 144823191 144954411 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891748,nsv891740,nsv891745,nsv891744 M 6533 0 4 BREA2,CCDC166,FAM83H,LOC100128338,MAPK15,MIR4664,SCRIB,ZNF707 IS32322,IS33248,IS34057,MS13095 dgv7939n71 8 144823191 145074635 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891757,nsv891750,nsv891758,nsv891741,nsv891753,nsv891746,nsv891752,nsv891749 M 6533 0 10 BREA2,CCDC166,EPPK1,FAM83H,LOC100128338,MAPK15,MIR4664,MIR937,NRBP2,PLEC,PUF60,SCRIB,ZNF707 IS32737,IS33684,IS34304,IS39363,IS39417,MS10698,MS16153,MS16315,MS18276,SP54988 dgv7940n71 8 144823191 145540343 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891743,nsv891760 M 6533 0 2 BOP1,BREA2,CCDC166,CYC1,DGAT1,EPPK1,EXOSC4,FAM203A,FAM83H,GPAA1,GRINA,HEATR7A,HSF1,KIAA1875,LOC100128338,MAF1,MAPK15,MIR4664,MIR661,MIR937,NRBP2,OPLAH,PARP10,PLEC,PUF60,SCRIB,SCRT1,SCXA,SCXB,SHARPIN,SPATC1,ZNF707 MS10311,MS11306 esv1662426 8 144823429 144823429 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332350 S 2 1 0 "" HuRef esv1129658 8 144823537 144823537 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083973 S 2 1 0 "" HuRef nsv891747 8 144844832 144895899 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505978 S 6533 0 1 BREA2,CCDC166,FAM83H,LOC100128338,MAPK15,MIR4664,ZNF707 SP54043 nsv466007 8 144844832 144932865 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541660 S 1557 0 1 BREA2,CCDC166,FAM83H,LOC100128338,MAPK15,MIR4664,ZNF707 1780862444_A nsv519816 8 144849509 144894025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697066 S 2026 0 1 BREA2,CCDC166,FAM83H,LOC100128338,MAPK15,MIR4664,ZNF707 nsv891751 8 144850926 144982227 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584804 S 6533 0 1 BREA2,CCDC166,FAM83H,LOC100128338,MAPK15,MIR4664,MIR937,PUF60,SCRIB IS37172 dgv7941n71 8 144856644 144895899 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891755,nsv891756 M 6533 0 2 CCDC166,FAM83H,LOC100128338,MAPK15,MIR4664 SP54042,SP55021 esv1001514 8 144865796 144865796 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585283 S 3 1 0 "" HuRef esv1773052 8 144865819 144865819 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045281 S 2 1 0 "" HuRef nsv6441 8 144867638 144900325 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1775 S 9 1 0 FAM83H,LOC100128338,MAPK15,MIR4664 NA18555 nsv824777 8 144867951 144870534 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435229 S 31 0 1 MAPK15 NA18942 dgv7942n71 8 144871453 144895899 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891762,nsv891761,nsv891763 M 6533 0 3 FAM83H,LOC100128338,MAPK15,MIR4664 SP54225,SP54591,SP54956 nsv824778 8 144878022 144878696 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438968 S 31 1 0 FAM83H NA18973 nsv891764 8 144878998 144912855 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508280 S 6533 0 1 FAM83H,LOC100128338,MIR4664 SP54657 nsv824779 8 144880141 144880921 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441318 S 31 1 0 FAM83H NA18547 esv22609 8 144881425 144882717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21041 S 451 0 1 FAM83H NA07045 nsv824780 8 144916580 144940858 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441206 S 31 1 0 "" NA18969 esv2587808 8 144929534 144929947 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358189 S 1 0 1 "" NA18507 dgv7943n71 8 144932865 145140658 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891768,nsv891765 M 6533 0 2 EPPK1,GRINA,MIR661,MIR937,NRBP2,PARP10,PLEC,PUF60,SCRIB IS33455,SP54956 nsv824781 8 144933379 144940641 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438969 S 31 1 0 "" NA18973 nsv6442 8 144935988 144980451 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4616 S 9 0 1 MIR937,PUF60,SCRIB NA19129 nsv891766 8 144947576 145288592 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592214 S 6533 0 1 CYC1,EPPK1,EXOSC4,FAM203A,GPAA1,GRINA,HEATR7A,KIAA1875,MAF1,MIR661,MIR937,NRBP2,OPLAH,PARP10,PLEC,PUF60,SCRIB,SHARPIN,SPATC1 IS39233 dgv7944n71 8 144954411 144999260 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891774,nsv891767,nsv891772,nsv891769 M 6533 0 4 MIR937,NRBP2,PUF60,SCRIB SP54593,SP54725,SP55021,SP81010 nsv398483 8 144962602 144962602 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417061 M 24 SCRIB dgv7945n71 8 144962861 145035254 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891775,nsv891770 M 6533 0 3 EPPK1,MIR937,NRBP2,PUF60,SCRIB SP54043,SP54750,SP55019 dgv7946n71 8 144965072 144991037 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891773,nsv891771 M 6533 0 2 MIR937,NRBP2,PUF60,SCRIB SP54672,SP54684 nsv466009 8 144966484 145046951 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541661 S 1557 0 1 EPPK1,MIR937,NRBP2,PUF60,SCRIB 1780862347_A nsv891776 8 144972606 144999260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511733 S 6533 0 1 NRBP2,PUF60 SP55056 nsv824782 8 144987655 144988995 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435231,nssv1427718,nssv1437577,nssv1436802 M 31 3 1 NRBP2 NA18542,NA18942,NA18949,NA18968 dgv1203n67 8 144995414 145013987 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824784,nsv824783 M 31 2 0 EPPK1 NA18949,NA18968 dgv906n27 8 144999260 145288211 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466010,nsv466012,nsv466013 M 1557 0 3 CYC1,EPPK1,EXOSC4,FAM203A,GPAA1,GRINA,HEATR7A,KIAA1875,MAF1,MIR661,OPLAH,PARP10,PLEC,SHARPIN,SPATC1 1780862304_A,HGDP00491,HGDP00950 nsv824785 8 144999892 145013023 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435232 S 31 0 1 EPPK1 NA18942 dgv1204n67 8 145000345 145014240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824788,nsv824787 M 31 2 0 EPPK1 NA18542,NA18969 nsv6444 8 145000411 145022079 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10648,nssv785,nssv9919,nssv9470,nssv6263,nssv3699,nssv1776,nssv5141 M 9 8 0 EPPK1 NA12156,NA12878,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv824789 8 145011089 145014631 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433783 S 31 1 0 EPPK1 NA18526 dgv1205n67 8 145011216 145012105 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824790,nsv824791 M 31 3 0 EPPK1 AK12,AK6,NA18973 nsv824792 8 145011216 145012724 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428449 S 31 1 0 EPPK1 AK10 esv1005471 8 145011513 145012205 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565356 S 3 1 0 EPPK1 HuRef dgv59n47 8 145012206 145012777 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499488,nsv499294 M 9 2 0 EPPK1 esv1175491 8 145012545 145012545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4322809 S 2 1 0 EPPK1 HuRef nsv396174 8 145030063 145030183 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414752 M 24 "" nsv396670 8 145030187 145030187 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415248 M 24 "" nsv470249 8 145035254 145715426 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546852,nssv546850,nssv546842,nssv546848,nssv546822,nssv546831,nssv546847,nssv546857,nssv546849,nssv546833,nssv546835,nssv546838,nssv546826,nssv546829,nssv546851,nssv546855,nssv546839,nssv546823,nssv546837,nssv546834,nssv546846,nssv546830,nssv546824,nssv546853,nssv546836,nssv546840,nssv546844,nssv546820,nssv546856,nssv546845,nssv546825,nssv546858,nssv546828,nssv546827,nssv546859,nssv546841 M 443 0 28 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ADCK5,BOP1,C8ORFK29,CPSF1,CYC1,CYHR1,DGAT1,EXOSC4,FAM203A,FBXL6,FOXH1,GPAA1,GPR172A,GPT,GRINA,HEATR7A,HSF1,KIAA1875,KIFC2,LRRC14,MAF1,MFSD3,MIR1234,MIR661,MIR939,OPLAH,PARP10,PLEC,PPP1R16A,RECQL4,SCRT1,SCXA,SCXB,SHARPIN,SLC39A4,SPATC1,TONSL,VPS28 HGDP00288,HGDP00298,HGDP00302,HGDP00330,HGDP00543,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00661,HGDP00697,HGDP00789,HGDP00825,HGDP00863,HGDP00865,HGDP00874,HGDP00876,HGDP00878,HGDP00881,HGDP00882,HGDP00883,HGDP00891,HGDP00892,HGDP00954,HGDP00962,HGDP00978,HGDP01060,HGDP01061 dgv7947n71 8 145038946 145153236 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891782,nsv891797,nsv891781,nsv891777,nsv891792 M 6533 0 6 GRINA,MIR661,PARP10,PLEC IS39248,MS10204,MS20850,MS22898,SP54725,SP54988 dgv7948n71 8 145038946 145252805 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891789,nsv891788,nsv891778,nsv891780,nsv891800,nsv891802 M 6533 0 14 CYC1,EXOSC4,GPAA1,GRINA,KIAA1875,MAF1,MIR661,OPLAH,PARP10,PLEC,SHARPIN,SPATC1 IS30835,IS33605,IS33684,IS34057,IS37172,IS38235,IS38388,IS39417,IS41634,MS10123,MS10386,MS10698,MS11726,MS13095 dgv7949n71 8 145038946 145358471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891779,nsv891791 M 6533 0 2 CYC1,EXOSC4,FAM203A,GPAA1,GRINA,HEATR7A,KIAA1875,MAF1,MIR661,OPLAH,PARP10,PLEC,SHARPIN,SPATC1 IS33162,IS34235 dgv7950n71 8 145048560 145288592 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891803,nsv891783,nsv891790 M 6533 0 8 CYC1,EXOSC4,FAM203A,GPAA1,GRINA,HEATR7A,KIAA1875,MAF1,MIR661,OPLAH,PARP10,PLEC,SHARPIN,SPATC1 IS32737,IS33601,IS34005,IS39258,IS41410,MS16153,MS16315,MS18276 dgv7951n71 8 145050595 145153236 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv891785,nsv891784,nsv891786 M 6533 12 47 GRINA,MIR661,PARP10,PLEC IS30210,IS30473,IS30593,IS30781,IS30899,IS30923,IS30976,IS31118,IS31142,IS31728,IS31800,IS33243,IS33263,IS33475,IS33493,IS33514,IS33676,IS33691,IS34407,IS34645,IS34895,IS35336,IS35742,IS35782,IS35833,IS36170,IS37825,IS38057,IS38162,IS38538,IS38735,IS39254,IS39272,IS39627,IS39743,IS39817,IS39861,IS39944,IS40230,IS40297,IS40396,IS41224,IS41754,MS10227,MS10580,MS11703,MS12545,MS13426,MS14318,MS14485,MS15835,MS19226,MS19303,MS19414,MS19630,MS19808,MS20359,MS21868,MS24736 nsv891787 8 145050595 145195417 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567131,nssv1570243,nssv1584005,nssv1581467,nssv1534146,nssv1541176,nssv1591825,nssv1585762,nssv1588735 M 6533 1 8 GRINA,MIR661,OPLAH,PARP10,PLEC,SPATC1 IS31045,IS31837,IS35581,IS36785,IS37646,IS38239,IS39046,MS11467,MS15199 nsv515809 8 145050595 145715426 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657105,nssv678442,nssv675373,nssv690379,nssv705660,nssv664838,nssv704389,nssv674649,nssv669632,nssv699069,nssv659811,nssv689689,nssv677163,nssv681012,nssv700446,nssv688165,nssv683355,nssv684895,nssv705822,nssv697495,nssv660144,nssv702166,nssv683295,nssv658922 M 2026 1 23 ADCK5,BOP1,C8ORFK29,CPSF1,CYC1,CYHR1,DGAT1,EXOSC4,FAM203A,FBXL6,FOXH1,GPAA1,GPR172A,GPT,GRINA,HEATR7A,HSF1,KIAA1875,KIFC2,LRRC14,MAF1,MFSD3,MIR1234,MIR661,MIR939,OPLAH,PARP10,PLEC,PPP1R16A,RECQL4,SCRT1,SCXA,SCXB,SHARPIN,SLC39A4,SPATC1,TONSL,VPS28 dgv7952n71 8 145056271 145103253 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891796,nsv891793,nsv891799 M 6533 0 6 MIR661,PLEC SP50159,SP54672,SP54684,SP54782,SP55992,SP81010 dgv7953n71 8 145057188 145076932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891795,nsv891794 M 6533 0 2 PLEC SP55021,SP56223 nsv824793 8 145062114 145067728 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426836 S 31 1 0 PLEC AK6 nsv824794 8 145062114 145100595 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441329 S 31 1 0 MIR661,PLEC NA18547 nsv824795 8 145062149 145063794 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437579 S 31 1 0 PLEC NA18949 nsv891798 8 145062516 145084399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511189 S 6533 0 1 PLEC SP55019 nsv470250 8 145064090 145223898 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546860 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYC1,EXOSC4,GPAA1,GRINA,MIR661,OPLAH,PARP10,PLEC,SPATC1 HGDP00713 nsv891801 8 145066904 145073405 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511734 S 6533 0 1 PLEC SP55056 nsv824796 8 145073402 145074177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432205 S 31 0 1 PLEC AK20 nsv818664 8 145079175 145090342 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417900 S 112 0 1 PLEC NA18853 nsv824798 8 145104950 145111120 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435233 S 31 0 1 PLEC NA18942 nsv819867 8 145104972 145111043 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419752 S 2 0 1 PLEC AK1 dgv1206n67 8 145105006 145111120 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824800,nsv824799 M 31 3 0 PLEC NA18949,NA18969,NA18973 nsv6445 8 145107571 145140678 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8572 S 9 1 0 GRINA,PARP10,PLEC NA12156 nsv891804 8 145116737 145133612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499611 S 6533 0 1 PARP10,PLEC SP50159 esv1340913 8 145127653 145127730 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3988100 S 2 0 1 PARP10 HuRef nsv512979 8 145134219 145135276 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625634 S 1 1 0 "" 1 esv21567 8 145150493 145159054 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18279 S 451 1 0 SPATC1 NA12156 dgv7954n71 8 145153236 145339988 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891805,nsv891808 M 6533 0 2 CYC1,EXOSC4,FAM203A,GPAA1,HEATR7A,KIAA1875,MAF1,OPLAH,SHARPIN,SPATC1 IS37646,SP54956 nsv466014 8 145153236 145351076 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541665 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYC1,EXOSC4,FAM203A,GPAA1,HEATR7A,KIAA1875,MAF1,OPLAH,SHARPIN,SPATC1 HGDP01177 dgv7955n71 8 145153236 145545276 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891813,nsv891816,nsv891806 M 6533 0 3 BOP1,CYC1,DGAT1,EXOSC4,FAM203A,GPAA1,HEATR7A,HSF1,KIAA1875,MAF1,OPLAH,SCRT1,SCXA,SCXB,SHARPIN,SPATC1 IS35007,MS13770,MS17208 nsv891807 8 145153236 146035222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570744 S 6533 0 1 ADCK5,ARHGAP39,BOP1,C8orf82,C8ORFK29,CPSF1,CYC1,CYHR1,DGAT1,EXOSC4,FAM203A,FBXL6,FOXH1,GPAA1,GPR172A,GPT,HEATR7A,HSF1,KIAA1875,KIFC2,LRRC14,LRRC24,MAF1,MFSD3,MIR1234,MIR939,OPLAH,PPP1R16A,RECQL4,RPL8,SCRT1,SCXA,SCXB,SHARPIN,SLC39A4,SPATC1,TONSL,VPS28,ZNF251,ZNF34,ZNF517,ZNF7 IS32322 nsv6446 8 145158685 145176939 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5142,nssv10649,nssv787,nssv1779,nssv3700 M 9 5 0 SPATC1 NA12878,NA18555,NA18956,NA19129,NA19240 esv1010431 8 145163960 145165521 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565171 S 3 1 0 SPATC1 HuRef nsv428208 8 145168715 145918485 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451602 S 62 1 0 ADCK5,ARHGAP39,BOP1,C8orf82,C8ORFK29,CPSF1,CYC1,CYHR1,DGAT1,EXOSC4,FAM203A,FBXL6,FOXH1,GPAA1,GPR172A,GPT,HEATR7A,HSF1,KIAA1875,KIFC2,LRRC14,LRRC24,MAF1,MFSD3,MIR1234,MIR939,OPLAH,PPP1R16A,RECQL4,SCRT1,SCXA,SCXB,SHARPIN,SLC39A4,SPATC1,TONSL,VPS28,ZNF251 HGDP00467 nsv891809 8 145169663 145243665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510770,nssv1507522 M 6533 0 2 CYC1,EXOSC4,GPAA1,KIAA1875,MAF1,OPLAH,SHARPIN,SPATC1 SP54725,SP54988 nsv824801 8 145173572 145186589 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441340 S 31 1 0 OPLAH,SPATC1 NA18547 esv989694 8 145186553 145189328 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587165 S 3 1 0 OPLAH HuRef nsv6447 8 145191556 145214280 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8573 S 9 1 0 EXOSC4,GPAA1 NA12156 esv29971 8 145195417 145299088 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84210 S 2 0 1 CYC1,EXOSC4,FAM203A,GPAA1,HEATR7A,KIAA1875,MAF1,SHARPIN HuRef dgv2263e1 8 145203172 145357632 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv240,essv16359 M 271 0 0 CYC1,EXOSC4,FAM203A,GPAA1,HEATR7A,KIAA1875,MAF1,SHARPIN NA19193 dgv7956n71 8 145215922 145243665 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891811,nsv891810 M 6533 0 2 CYC1,KIAA1875,MAF1,SHARPIN SP54672,SP55019 nsv891812 8 145215922 145250863 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511408 S 6533 0 1 CYC1,KIAA1875,MAF1,SHARPIN SP55021 nsv6448 8 145229056 145255155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5143 S 9 1 0 KIAA1875,MAF1,SHARPIN NA19129 nsv891814 8 145231292 145243665 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505980,nssv1507857 M 6533 0 2 KIAA1875,MAF1 SP54043,SP54593 nsv824802 8 145232201 145356750 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425123 S 31 1 0 FAM203A,HEATR7A,KIAA1875,MAF1 AK2 nsv824803 8 145243444 145290636 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438972 S 31 1 0 FAM203A,HEATR7A,KIAA1875 NA18973 esv992949 8 145251920 145252567 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563999 S 3 1 0 "" HuRef nsv891815 8 145252805 145358471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597290,nssv1534998 M 6533 0 2 FAM203A,HEATR7A IS40799,MS11919 nsv891817 8 145252805 145715426 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564295 S 6533 0 1 ADCK5,BOP1,C8ORFK29,CPSF1,CYHR1,DGAT1,FAM203A,FBXL6,FOXH1,GPR172A,GPT,HEATR7A,HSF1,KIFC2,LRRC14,MFSD3,MIR1234,MIR939,PPP1R16A,RECQL4,SCRT1,SCXA,SCXB,SLC39A4,TONSL,VPS28 IS30197 nsv8395 8 145260806 145290638 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19362,nssv20594,nssv21660,nssv18548 M 31 3 1 Samples from several populations that are part of the HapMap project. FAM203A,HEATR7A NA12155,NA18502,NA18517,NA19221 esv2068640 8 145306661 145307076 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908037 S 1 0 1 HEATR7A NA18507 esv995753 8 145306812 145306866 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583605 S 3 0 1 HEATR7A HuRef nsv397598 8 145306812 145306866 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416176 M 24 HEATR7A esv1268119 8 145306866 145306921 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3993922 S 2 0 1 HEATR7A HuRef nsv398283 8 145306867 145306921 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416861 M 24 HEATR7A dgv7957n71 8 145307266 145529349 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891819,nsv891818 M 6533 0 2 BOP1,DGAT1,FAM203A,HEATR7A,HSF1,SCRT1,SCXA,SCXB MS10123,MS11237 esv1342065 8 145312561 145312561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4024253 S 2 1 0 HEATR7A HuRef nsv512980 8 145345878 145346183 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625635 S 1 1 0 HEATR7A 1 esv30003 8 145348220 145484561 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84242 S 2 0 1 BOP1,FAM203A,HEATR7A,SCXA,SCXB HuRef nsv508532 8 145351919 145405160 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618845 S 4 0 1 HEATR7A,SCXA,SCXB NA10860 esv2502973 8 145360128 145360623 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317390 S 1 1 0 HEATR7A NA18507 esv1534291 8 145360282 145360282 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145605 S 2 1 0 HEATR7A HuRef dgv7958n71 8 145360356 145572558 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891823,nsv891822,nsv891820,nsv891828,nsv891821 M 6533 0 24 ADCK5,BOP1,C8ORFK29,DGAT1,FAM203A,FBXL6,GPR172A,HEATR7A,HSF1,SCRT1,SCXA,SCXB IS30369,IS32737,IS32841,IS32888,IS32918,IS33239,IS33455,IS33514,IS33797,IS34005,IS34057,IS34304,IS35484,IS37172,IS38293,IS38403,IS39258,IS39363,IS40230,IS40396,MS10769,MS13095,MS16315,SP54956 dgv7959n71 8 145360356 145700535 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891825,nsv891826,nsv891824 M 6533 0 4 ADCK5,BOP1,C8ORFK29,CPSF1,CYHR1,DGAT1,FAM203A,FBXL6,FOXH1,GPR172A,GPT,HEATR7A,HSF1,KIFC2,MIR1234,MIR939,PPP1R16A,SCRT1,SCXA,SCXB,SLC39A4,TONSL,VPS28 IS33601,IS33684,IS39417,MS16153 esv989584 8 145361425 145464290 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565270 S 3 0 1 BOP1,FAM203A,HEATR7A,SCXA,SCXB HuRef nsv891827 8 145362248 145485228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510771 S 6533 0 1 BOP1,FAM203A,HEATR7A,SCXA,SCXB SP54988 nsv8396 8 145364657 145555757 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18279,nssv17162,nssv17838,nssv21690,nssv19392 M 31 5 0 Samples from several populations that are part of the HapMap project. BOP1,C8ORFK29,DGAT1,FAM203A,FBXL6,GPR172A,HEATR7A,HSF1,SCRT1,SCXA,SCXB NA07029,NA12740,NA18502,NA18564,NA19221 dgv7960n71 8 145434293 145555605 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891833,nsv891835,nsv891839,nsv891829,nsv891834,nsv891830 M 6533 0 15 BOP1,C8ORFK29,DGAT1,FBXL6,GPR172A,HSF1,SCRT1,SCXA,SCXB IS31656,IS32306,IS33162,IS33361,IS33665,IS34235,IS34407,IS38057,IS38538,IS40502,MS11054,MS11579,MS11726,SP54043,SP55021 dgv7961n71 8 145445915 145483648 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891831,nsv891837 M 6533 0 2 BOP1,SCXA,SCXB SP54684,SP54725 nsv891832 8 145445915 145529349 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581468,nssv1567445 M 6533 1 1 BOP1,DGAT1,HSF1,SCRT1,SCXA,SCXB IS31082,IS35581 nsv891836 8 145451819 145477799 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506344 S 6533 0 1 BOP1,SCXA,SCXB SP54225 nsv891838 8 145451819 145529349 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599777 S 6533 1 0 BOP1,DGAT1,HSF1,SCRT1,SCXA,SCXB IS41786 nsv891840 8 145451819 145572558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598160 S 6533 0 1 ADCK5,BOP1,C8ORFK29,DGAT1,FBXL6,GPR172A,HSF1,SCRT1,SCXA,SCXB IS40828 esv2253218 8 145473738 145474179 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696775 S 1 0 1 BOP1 NA18507 esv3547 8 145473902 145474148 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25988 S 1 0 1 Single Asian sample YH BOP1 YH nsv891841 8 145475151 145676021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574792 S 6533 0 1 ADCK5,BOP1,C8ORFK29,CPSF1,CYHR1,DGAT1,FBXL6,FOXH1,GPR172A,HSF1,KIFC2,MIR1234,MIR939,SCRT1,SLC39A4,TONSL,VPS28 IS33630 esv29857 8 145475732 145476209 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15960 S 451 1 0 BOP1 NA19099 nsv396397 8 145476168 145476227 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414975 M 24 BOP1 nsv824804 8 145484270 145533592 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437581 S 31 1 0 BOP1,DGAT1,HSF1,SCRT1 NA18949 nsv891842 8 145487506 145540343 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572784,nssv1531259,nssv1549759,nssv1573831,nssv1599274,nssv1573186,nssv1582473,nssv1597291,nssv1599116,nssv1598572 M 6533 1 9 DGAT1,HSF1,SCRT1 IS33178,IS33248,IS33504,IS35968,IS40799,IS41243,IS41410,IS41524,MS10386,MS18276 nsv891843 8 145487506 145545276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585887 S 6533 0 1 DGAT1,HSF1,SCRT1 IS37646 nsv891844 8 145487506 145623814 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592215 S 6533 0 1 ADCK5,C8ORFK29,CPSF1,DGAT1,FBXL6,GPR172A,HSF1,MIR1234,MIR939,SCRT1,SLC39A4,VPS28 IS39233 nsv891845 8 145487506 145692818 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589923 S 6533 1 0 ADCK5,C8ORFK29,CPSF1,CYHR1,DGAT1,FBXL6,FOXH1,GPR172A,HSF1,KIFC2,MIR1234,MIR939,SCRT1,SLC39A4,TONSL,VPS28 IS38430 nsv891846 8 145487506 145809866 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599400 S 6533 0 1 ADCK5,ARHGAP39,C8orf82,C8ORFK29,CPSF1,CYHR1,DGAT1,FBXL6,FOXH1,GPR172A,GPT,HSF1,KIFC2,LRRC14,LRRC24,MFSD3,MIR1234,MIR939,PPP1R16A,RECQL4,SCRT1,SLC39A4,TONSL,VPS28 IS41634 dgv2264e1 8 145494501 145668486 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1034,esv28,essv4846 M 271 0 0 ADCK5,C8ORFK29,CPSF1,CYHR1,DGAT1,FBXL6,GPR172A,HSF1,KIFC2,MIR1234,MIR939,SCRT1,SLC39A4,TONSL,VPS28 NA18540,NA19005 dgv7962n71 8 145499123 145538246 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891847,nsv891848 M 6533 0 5 DGAT1,HSF1,SCRT1 SP54591,SP54725,SP54967,SP54988,SP55019 esv25318 8 145508015 145508520 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16938 S 451 1 0 HSF1 NA19147 esv1341308 8 145508174 145508224 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045389 S 2 0 1 HSF1 HuRef esv21781 8 145531027 145533097 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11214 S 451 0 1 "" NA07045 nsv831489 8 145536610 145740218 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447532,nssv1447524,nssv1447520,nssv1447519,nssv1447523,nssv1447522,nssv1447521,nssv1447531,nssv1447525,nssv1447527,nssv1447526,nssv1447528,nssv1447530,nssv1447534,nssv1447535,nssv1447533 M 95 0 16 ADCK5,ARHGAP39,C8orf82,C8ORFK29,CPSF1,CYHR1,FBXL6,FOXH1,GPR172A,GPT,KIFC2,LRRC14,LRRC24,MFSD3,MIR1234,MIR939,PPP1R16A,RECQL4,SLC39A4,TONSL,VPS28 esv1247844 8 145544114 145544181 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719045 S 2 0 1 "" HuRef esv24892 8 145545294 145545814 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16347 S 451 0 2 "" NA12776,NA19129 dgv7963n71 8 145545583 145612372 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891849,nsv891856 M 6533 0 2 ADCK5,C8ORFK29,CPSF1,FBXL6,GPR172A,MIR1234,MIR939,SLC39A4 IS34235,IS34304 dgv7964n71 8 145545738 145555605 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891852,nsv891853,nsv891850 M 6533 0 3 C8ORFK29,FBXL6,GPR172A SP54593,SP54776,SP55019 dgv7965n71 8 145545738 145572160 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891851,nsv891854,nsv891860,nsv891855 M 6533 0 4 ADCK5,C8ORFK29,FBXL6,GPR172A SP54042,SP54725,SP54988,SP55021 dgv7966n71 8 145546295 145748936 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891859,nsv891858,nsv891868,nsv891857 M 6533 0 6 ADCK5,ARHGAP39,C8orf82,C8ORFK29,CPSF1,CYHR1,FBXL6,FOXH1,GPR172A,GPT,KIFC2,LRRC14,LRRC24,MFSD3,MIR1234,MIR939,PPP1R16A,RECQL4,SLC39A4,TONSL,VPS28 IS30369,IS33455,IS38176,IS40396,MS17825,SP54956 nsv8397 8 145572258 145578581 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17485 S 31 1 0 Samples from several populations that are part of the HapMap project. ADCK5 NA18980 esv21877 8 145574501 145578651 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16175 S 451 1 3 ADCK5 NA11993,NA12004,NA12489,NA18505 nsv821196 8 145574501 145578651 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420793 S 1 0 1 ADCK5 NA10851 nsv512079 8 145574640 145577861 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624634 S 1 0 1 ADCK5 1 esv1669507 8 145575118 145575280 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101707 S 2 0 1 ADCK5 HuRef esv1712288 8 145575308 145576442 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3978978 S 2 0 1 ADCK5 HuRef esv1695178 8 145576447 145576663 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4274994 S 2 0 1 ADCK5 HuRef dgv7967n71 8 145577448 145661116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891863,nsv891871,nsv891862,nsv891861 M 6533 0 6 ADCK5,CPSF1,CYHR1,MIR1234,MIR939,SLC39A4,TONSL,VPS28 IS30837,IS31045,IS33504,IS35968,MS15997,SP54725 dgv7968n71 8 145577448 145715426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891866,nsv891867,nsv891865,nsv891864 M 6533 0 7 ADCK5,CPSF1,CYHR1,FOXH1,GPT,KIFC2,LRRC14,MFSD3,MIR1234,MIR939,PPP1R16A,RECQL4,SLC39A4,TONSL,VPS28 IS32918,IS33340,IS34057,IS35007,IS37985,IS40230,MS16315 dgv7969n71 8 145577448 145816471 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891881,nsv891869 M 6533 0 3 ADCK5,ARHGAP39,C8orf82,CPSF1,CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,MIR1234,MIR939,PPP1R16A,RECQL4,SLC39A4,TONSL,VPS28 IS38293,MS13770,MS18276 esv1030070 8 145577647 145577647 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240137 S 2 1 0 ADCK5 HuRef esv1578252 8 145577674 145577674 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251694 S 2 1 0 ADCK5 HuRef nsv891870 8 145580700 145610534 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505982,nssv1511411 M 6533 0 2 ADCK5,CPSF1,MIR1234,MIR939,SLC39A4 SP54043,SP55021 nsv824805 8 145588040 145612823 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441351 S 31 1 0 ADCK5,CPSF1,MIR1234,MIR939,SLC39A4 NA18547 dgv7970n71 8 145594320 145661116 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891876,nsv891875,nsv891874,nsv891872,nsv891877 M 6533 0 8 CPSF1,CYHR1,MIR1234,SLC39A4,TONSL,VPS28 IS33514,IS33552,IS33665,IS37646,IS39363,MS10311,MS11237,MS16153 nsv891873 8 145602005 145617105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510774 S 6533 0 1 CPSF1,SLC39A4 SP54988 dgv7971n71 8 145602005 145676021 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891878,nsv891882 M 6533 0 2 CPSF1,CYHR1,FOXH1,KIFC2,SLC39A4,TONSL,VPS28 IS34005,SP54782 dgv7972n71 8 145602005 145715426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891880,nsv891879,nsv891885 M 6533 0 6 CPSF1,CYHR1,FOXH1,GPT,KIFC2,LRRC14,MFSD3,PPP1R16A,RECQL4,SLC39A4,TONSL,VPS28 IS34908,IS38403,IS41410,MS10769,MS15835,MS17208 dgv7973n71 8 145611043 145651737 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891883,nsv891884 M 6533 0 2 CYHR1,SLC39A4,TONSL,VPS28 IS39233,SP55992 dgv907n27 8 145612372 145721314 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466019,nsv466022 M 1557 0 2 CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4,SLC39A4,TONSL,VPS28 1780862014_A,HGDP00433 nsv482124 8 145619808 145624735 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558485 S 1 1 0 VPS28 KB1 nsv466020 8 145623814 145639251 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541668 S 1557 0 1 TONSL,VPS28 1780854517_A dgv7974n71 8 145623814 145644192 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891886,nsv891889 M 6533 0 2 TONSL,VPS28 SP54684,SP55019 nsv891887 8 145623814 145676021 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572041 S 6533 1 0 CYHR1,FOXH1,KIFC2,TONSL,VPS28 IS32843 dgv7975n71 8 145625602 145751896 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891909,nsv891888,nsv891894,nsv891900,nsv891892,nsv891901 M 6533 0 11 ARHGAP39,C8orf82,CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4,TONSL IS32737,IS32803,IS33239,IS37172,IS37646,IS38538,IS39233,IS40297,IS40502,MS16153,SP54988 nsv891890 8 145632483 145645972 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510507 S 6533 0 1 TONSL SP54967 nsv891891 8 145637827 145651737 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510775 S 6533 0 1 CYHR1,TONSL SP54988 dgv7976n71 8 145639251 145729139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891893,nsv891899,nsv891898,nsv891906 M 6533 0 7 ARHGAP39,C8orf82,CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4,TONSL IS31656,IS33162,IS33248,IS40799,SP51109,SP54593,SP55021 dgv7977n71 8 145639251 145809866 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891902,nsv891910,nsv891895 M 6533 0 4 ARHGAP39,C8orf82,CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4,TONSL IS31045,IS34407,IS41243,MS13095 dgv7978n71 8 145639251 145916846 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891903,nsv891896 M 6533 0 2 ARHGAP39,C8orf82,CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4,TONSL IS33797,MS10311 nsv891897 8 145639251 146035222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580861 S 6533 0 1 ARHGAP39,C8orf82,CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4,RPL8,TONSL,ZNF251,ZNF34,ZNF517,ZNF7 IS35484 esv989431 8 145640648 145640701 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570044 S 3 0 1 "" HuRef nsv395802 8 145640648 145640701 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv414380 M 24 "" esv1073970 8 145640715 145640769 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772935 S 2 0 1 "" HuRef esv1003467 8 145650147 145658734 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563508 S 3 0 1 CYHR1 HuRef esv29999 8 145652923 145721314 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84238 S 2 0 1 CYHR1,FOXH1,GPT,KIFC2,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4 HuRef dgv7979n71 8 145653322 145670196 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891905,nsv891904 M 6533 0 3 CYHR1,FOXH1,KIFC2 SP54042,SP54225,SP54750 esv26548 8 145657105 145663226 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21334 S 451 1 0 CYHR1,KIFC2 NA06985 dgv7980n71 8 145658283 145672261 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891907,nsv891908 M 6533 0 5 CYHR1,FOXH1,KIFC2 SP54672,SP54725,SP54967,SP55019,SP55056 nsv891911 8 145682925 145710732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508565 S 6533 0 1 GPT,MFSD3,PPP1R16A,RECQL4 SP54725 nsv891912 8 145682925 145729139 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505983 S 6533 0 1 ARHGAP39,C8orf82,GPT,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4 SP54043 esv21785 8 145688500 145691595 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18336 S 451 0 1 "" NA12287 dgv7981n71 8 145691490 145708094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891914,nsv891913 M 6533 0 2 GPT,MFSD3,PPP1R16A,RECQL4 SP54657,SP55992 dgv7982n71 8 145692818 145714682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891915,nsv891921 M 6533 0 2 GPT,LRRC14,MFSD3,PPP1R16A,RECQL4 SP54750,SP55056 nsv482126 8 145692917 145698311 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558487 S 1 1 0 PPP1R16A KB1 dgv7983n71 8 145694227 145708094 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891917,nsv891918,nsv891916,nsv891919,nsv891920 M 6533 0 5 GPT,MFSD3,PPP1R16A,RECQL4 SP54591,SP54684,SP54937,SP55019,SP56223 dgv1207n67 8 145694587 145728609 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824807,nsv824806 M 31 2 0 ARHGAP39,C8orf82,GPT,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4 NA18526,NA18547 dgv7984n71 8 145696767 145725570 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891922,nsv891923 M 6533 0 2 ARHGAP39,C8orf82,GPT,LRRC14,LRRC24,MFSD3,PPP1R16A,RECQL4 SP54225,SP81010 nsv824810 8 145702320 145703077 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434174 S 31 0 1 GPT NA18592 esv1092376 8 145710012 145710012 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864095 S 2 1 0 RECQL4 HuRef esv1544139 8 145710046 145710046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749964 S 2 1 0 RECQL4 HuRef nsv482127 8 145714199 145721365 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558488 S 1 1 0 LRRC14,LRRC24 KB1 nsv522459 8 145715426 146041482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705823 S 2026 0 1 ARHGAP39,C8orf82,LRRC14,LRRC24,RPL8,ZNF251,ZNF34,ZNF517,ZNF7 esv23868 8 145727248 145728383 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11608 S 451 3 6 ARHGAP39 NA06985,NA12156,NA12489,NA18517,NA18523,NA18858,NA18907,NA19099,NA19108 esv1009938 8 145727429 145727553 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575886 S 3 0 1 ARHGAP39 HuRef esv1114154 8 145727433 145727433 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4150155 S 2 1 0 ARHGAP39 HuRef nsv831490 8 145749309 145882680 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447538,nssv1447537,nssv1447536 M 95 0 3 ARHGAP39 esv28359 8 145752725 145753986 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14785 S 451 0 3 ARHGAP39 NA18517,NA19114,NA19129 esv1657415 8 145753569 145753569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860783 S 2 1 0 ARHGAP39 HuRef esv22509 8 145757288 145759053 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11753 S 451 0 1 ARHGAP39 NA11993 nsv891924 8 145773255 145883875 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575067 S 6533 0 1 ARHGAP39 IS33684 nsv891925 8 145773255 146035222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546685,nssv1592217 M 6533 0 2 ARHGAP39,RPL8,ZNF251,ZNF34,ZNF517,ZNF7 IS39233,MS17208 esv23002 8 145796373 145799587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9740 S 451 0 2 ARHGAP39 NA11993,NA18502 nsv397749 8 145813563 145813622 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv416327 M 24 "" nsv512080 8 145820651 145822955 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624635 S 1 0 1 "" 1 nsv398470 8 145820746 145821561 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv417048 M 24 "" esv1245722 8 145821065 145821779 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3669890 S 2 0 1 "" HuRef esv1704218 8 145821793 145822048 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928456 S 2 0 1 "" HuRef nsv891926 8 145831050 145981915 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559862 S 6533 1 0 ZNF251,ZNF34 MS24187 dgv7985n71 8 145831050 146035222 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891927,nsv891928 M 6533 0 2 RPL8,ZNF251,ZNF34,ZNF517,ZNF7 IS32841,IS34304 esv2182408 8 145831941 145832291 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571539 S 1 0 1 "" NA18507 nsv509290 8 145835580 145893602 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619545,nssv623553 M 4 2 0 "" NA10860,NA18994 esv2445305 8 145865276 145865805 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5317055 S 1 1 0 "" NA18507 esv1013814 8 145865463 145865463 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3954931 S 2 1 0 "" HuRef nsv6449 8 145866720 145892921 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3701 S 9 1 0 "" NA12878 esv4347 8 145874092 145875106 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26788 S 1 1 0 Single Asian sample YH "" YH esv4758 8 145874092 145877262 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27199 S 1 1 0 Single Asian sample YH "" YH esv3119 8 145875107 145877469 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25560 S 1 0 1 Single Asian sample YH "" YH esv25740 8 145883050 145884238 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20656 S 451 0 1 "" NA19147 esv1665220 8 145883325 145883325 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324285 S 2 1 0 "" HuRef esv2459012 8 145891188 145891590 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215985 S 1 1 0 "" NA18507 nsv512981 8 145891309 145891405 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625636 S 1 1 0 "" 1 esv29524 8 145895109 145897544 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11308 S 451 0 3 "" NA12004,NA18505,NA19108 nsv396913 8 145958628 145958700 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415491 M 24 "" nsv891929 8 145974371 146035222 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573832 S 6533 0 1 RPL8,ZNF34,ZNF517,ZNF7 IS33504 nsv523879 8 145995756 146002506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699721 S 2026 0 1 ZNF517 esv1973347 8 146013587 146014053 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889524 S 1 0 1 "" NA18507 esv4394 8 146013648 146014068 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26835 S 1 0 1 Single Asian sample YH "" YH nsv396906 8 146013751 146013885 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415484 M 24 "" nsv397373 8 146017904 146017904 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv415951 M 24 "" nsv519962 8 146021800 146022007 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697150 S 2026 0 1 "" esv2506190 8 146026986 146029013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5324392 S 1 0 1 ZNF7 NA18507 nsv469809 8 146038512 146236298 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649830 M 265 0 1 Samples from several populations that are part of the HapMap project. C8orf77,COMMD5,TMED10P1,ZNF16,ZNF250,ZNF252,ZNF7 nsv6450 8 146046315 146078662 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5145 S 9 1 0 COMMD5,ZNF250 NA19129 nsv519737 8 146106670 146142241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697021 S 2026 0 1 ZNF16 esv2424380 8 146117426 146118940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266194 S 1 0 1 "" NA18507 esv1936458 8 146117772 146118175 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579109 S 1 0 1 "" NA18507 dgv7986n71 8 146117869 146274826 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891930,nsv891931 M 6533 2 0 C8orf33,C8orf77,TMED10P1,ZNF16,ZNF252 MS16986,MS17806 dgv2265e1 8 146120191 146264218 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10958,esv1078 M 271 0 0 C8orf33,C8orf77,TMED10P1,ZNF16,ZNF252 NA19092 esv28548 8 146142586 146143681 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13331 S 451 1 5 ZNF16 NA18508,NA18517,NA18909,NA19114,NA19129,NA19225 esv1336384 8 146142766 146142766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3660324 S 2 1 0 ZNF16 HuRef esv1592346 8 146142770 146142770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4298565 S 2 1 0 ZNF16 HuRef esv990431 8 146142774 146143581 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564667 S 3 1 0 ZNF16 HuRef esv1750274 8 146143000 146143000 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619192 S 2 1 0 ZNF16 HuRef esv2080072 8 146143218 146143761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4680548 S 1 0 1 ZNF16 NA18507 nsv524560 8 146144440 146174216 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700514 S 2026 1 0 ZNF16,ZNF252 dgv7987n71 8 146155041 146195916 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891934,nsv891932 M 6533 0 2 TMED10P1,ZNF252 IS38583,IS38618 nsv891933 8 146155041 146232398 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550495 S 6533 1 0 C8orf77,TMED10P1,ZNF252 MS18431 esv4941 8 146163631 146164056 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27382 S 1 0 1 Single Asian sample YH "" YH esv5493 8 146163661 146164010 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27934 S 1 0 1 "" SJK nsv527660 8 146166636 146189313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704132 S 2026 0 1 ZNF252 nsv466024 8 146166636 146263890 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541670 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf33,C8orf77,TMED10P1,ZNF252 HGDP01307 nsv508533 8 146166948 146252493 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622604 S 4 0 1 C8orf33,C8orf77,TMED10P1,ZNF252 NA18994 nsv891935 8 146174216 146222166 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569122 S 6533 1 0 C8orf77,TMED10P1,ZNF252 IS31419 nsv515504 8 146189245 146245512 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685622,nssv699678,nssv691242,nssv681066,nssv668069,nssv673741,nssv699778,nssv653359,nssv655105,nssv690926 M 2026 1 9 C8orf77,TMED10P1,ZNF252 nsv818665 8 146189245 146245512 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418299 S 112 0 1 C8orf77,TMED10P1,ZNF252 NA19092 nsv891936 8 146191250 146255887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562971 S 6533 1 0 C8orf33,C8orf77,TMED10P1,ZNF252 MS25798 nsv470251 8 146195916 146245512 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546861 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf77,ZNF252 HGDP00475 nsv466025 8 146195916 146263890 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541671 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C8orf33,C8orf77,ZNF252 HGDP00475 nsv8398 8 146195920 146201882 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19452 S 31 1 0 Samples from several populations that are part of the HapMap project. C8orf77,ZNF252 NA18502 nsv466026 8 146196084 146245512 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541672 S 1557 0 1 C8orf77,ZNF252 1780862306_A dgv7988n71 8 146209944 146274826 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891937,nsv891938 M 6533 0 2 C8orf33 IS37646,SP55021 esv1011243 8 146223031 146225920 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565325 S 3 1 0 "" HuRef nsv824811 8 146245561 146250753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428050 S 31 1 0 C8orf33 NA18947 nsv824812 8 146247550 146249710 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441373 S 31 1 0 C8orf33 NA18547 nsv8399 8 146248197 146249469 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21720 S 31 1 0 Samples from several populations that are part of the HapMap project. C8orf33 NA19221 nsv824813 8 146263138 146265695 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436804 S 31 1 0 "" NA18542 nsv8400 9 1 41412 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20624,nssv16330,nssv21750,nssv19971,nssv19977,nssv19993 M 31 5 1 Samples from several populations that are part of the HapMap project. FAM138C,WASH1 NA12802,NA18504,NA18517,NA18860,NA19132,NA19221 nsv891939 9 1 164447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514900 S 6533 0 1 CBWD1,FAM138C,FOXD4,WASH1 SP56094 esv23366 9 485 38531 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10298,esv19929,esv16986 M 451 29 2 FAM138C,WASH1 NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 nsv471464 9 4511 19739 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548353,nssv548351,nssv548352 M 3 WASH1 nsv482128 9 4511 19739 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558489 S 1 1 0 WASH1 KB1 esv1391017 9 16490 16806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787456 S 2 0 1 WASH1 HuRef esv1199599 9 18193 18265 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4198309 S 2 0 1 WASH1 HuRef esv989554 9 19226 19226 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581243 S 3 1 0 WASH1 HuRef dgv2266e1 9 21994 293073 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv865,essv5412,essv5892,essv7034,essv2896,essv20010,essv3415,essv15474 M 271 0 0 C9orf66,CBWD1,DOCK8,FAM138C,FOXD4 NA07048,NA18505,NA18563,NA18576,NA18612,NA18945,NA18953,NA19000 esv735 9 21994 373816 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 C9orf66,CBWD1,DOCK8,FAM138C,FOXD4 dgv253e55 9 30910 307370 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752302,esv34610,esv2752301,esv2752303,esv34714 M 771 5 0 C9orf66,CBWD1,DOCK8,FOXD4 BEC_376,BEC_501,BEC_544,NA18572,NA18576 dgv254e55 9 30910 489586 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752304,esv2752306 M 771 2 0 C9orf66,CBWD1,DOCK8,FOXD4 BEC_131,BEC_635 nsv891940 9 36587 194201 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592660 S 6533 1 0 CBWD1,FOXD4 IS39243 nsv515505 9 36587 439700 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706085,nssv653362,nssv662594,nssv659213,nssv666773,nssv692287,nssv666039,nssv668624,nssv662116,nssv686304,nssv657757 M 2026 10 1 C9orf66,CBWD1,DOCK8,FOXD4 esv27644 9 38710 199354 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17766 S 451 3 0 CBWD1,FOXD4 NA12878,NA18502,NA18505 nsv8401 9 46139 49087 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17868 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 nsv8403 9 52805 314255 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18238,nssv20654,nssv16884,nssv19021,nssv16369,nssv17856,nssv17506,nssv17192,nssv20393,nssv16856,nssv17515,nssv16582,nssv16967,nssv15671,nssv18578,nssv16339,nssv16505 M 31 8 8 Samples from several populations that are part of the HapMap project. C9orf66,CBWD1,DOCK8,FOXD4 NA07029,NA10847,NA10863,NA12155,NA12872,NA18517,NA18552,NA18563,NA18572,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19240 dgv7989n71 9 74832 198549 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891944,nsv891941,nsv891946,nsv891945 M 6533 0 5 CBWD1,FOXD4 MS13230,SP51473,SP55684,SP55852,SP56234 nsv891942 9 74832 247973 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535878 S 6533 1 0 C9orf66,CBWD1,DOCK8,FOXD4 MS12520 nsv891943 9 85343 176603 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506382 S 6533 1 0 CBWD1,FOXD4 SP54225 nsv471465 9 111038 169075 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548357,nssv548354,nssv548358 M 3 CBWD1 essv1889 9 116314 293073 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C9orf66,CBWD1,DOCK8 NA18976 dgv2267e1 9 116314 373816 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6378,essv6516 M 271 0 0 C9orf66,CBWD1,DOCK8 NA18572 nsv442127 9 139481 264606 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C9orf66,CBWD1,DOCK8 dgv7990n71 9 164447 293639 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891947,nsv891951,nsv891948,nsv891949 M 6533 6 0 C9orf66,CBWD1,DOCK8 MS10777,MS12731,MS15643,MS18568,MS19289,MS23142 dgv7991n71 9 164447 442926 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891950,nsv891953,nsv891960,nsv891958 M 6533 4 0 C9orf66,CBWD1,DOCK8 SP51489,SP55683,SP56663,SP81213 dgv7992n71 9 181843 356216 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891952,nsv891957 M 6533 2 0 C9orf66,DOCK8 IS38464,SP51309 nsv891954 9 192118 1389761 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545753 S 6533 0 1 C9orf66,DMRT1,DMRT2,DMRT3,DOCK8,KANK1 MS16934 nsv466028 9 194201 219826 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541674 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf66,DOCK8 HGDP01095 nsv818668 9 194201 256999 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417232 S 112 1 0 C9orf66,DOCK8 NA18576 dgv908n27 9 194201 280670 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466029,nsv466030,nsv466036,nsv466037,nsv466041,nsv466039 M 1557 6 0 C9orf66,DOCK8 1780862355_A,1780862466_A,1780862484_A,HGDP00884,HGDP01153,NINDS_182 dgv909n27 9 194201 388673 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466042,nsv466043 M 1557 2 0 C9orf66,DOCK8 HGDP00141,HGDP00521 esv32541 9 195098 261286 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96444 S 51 1 0 C9orf66,DOCK8 22261 nsv891955 9 195964 227988 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599665 S 6533 0 1 C9orf66,DOCK8 IS41758 dgv7993n71 9 196255 276491 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891959,nsv891956 M 6533 2 0 C9orf66,DOCK8 IS39333,SP81422 nsv438085 9 205917 238749 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470048 S 269 0 1 Samples from several populations that are part of the HapMap project. DOCK8 NA18576 dgv7994n71 9 209528 333981 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891961,nsv891963,nsv891962 M 6533 3 0 DOCK8 IS34872,IS35177,SP50633 nsv471267 9 227988 490979 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545770 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOCK8 HGDP01276 nsv466044 9 228389 624160 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541684 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DOCK8,KANK1 HGDP01276 nsv891964 9 247985 416215 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506425 S 6533 1 0 DOCK8 SP54345 esv270329 9 252426 252767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519252,essv2516947,essv2515928,essv2517233,essv2519440 M 157 5 0 Samples from several populations that are part of the HapMap project. DOCK8 NA07346,NA11894,NA11931,NA12873,NA18970 nsv6451 9 257688 291547 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3702 S 9 1 0 DOCK8 NA12878 nsv891965 9 263160 297197 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535879 S 6533 1 0 DOCK8 MS12520 nsv891966 9 302264 324016 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507861 S 6533 1 0 DOCK8 SP54685 nsv891967 9 302264 356216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501822 S 6533 1 0 DOCK8 SP50984 nsv511414 9 308207 315993 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626023 S 1 0 1 DOCK8 1 esv1007940 9 309293 315368 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565622 S 3 1 0 DOCK8 HuRef esv2466101 9 309710 313122 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387256 S 1 0 1 DOCK8 NA18507 esv2142595 9 309992 312565 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4883738 S 1 0 1 DOCK8 NA18507 nsv821297 9 310029 312718 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420794 S 1 0 1 DOCK8 NA10851 nsv512081 9 310075 312480 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624636 S 1 0 1 DOCK8 1 esv28569 9 310105 312509 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14562 S 451 2 21 DOCK8 NA07045,NA11894,NA11993,NA11995,NA12004,NA12156,NA12239,NA12414,NA12749,NA12878,NA15510,NA18505,NA18508,NA18517,NA18523,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19240 esv8141 9 310123 312471 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30582 S 1 0 1 DOCK8 SJK esv1769808 9 311082 312241 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3678689 S 2 0 1 DOCK8 HuRef nsv891968 9 319830 426983 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586857 S 6533 1 0 DOCK8 IS37986 nsv891969 9 326186 348932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582772,nssv1564770,nssv1599761,nssv1577523,nssv1569520,nssv1567274,nssv1593019,nssv1580524 M 6533 0 8 DOCK8 IS30295,IS31066,IS31602,IS34482,IS35358,IS36153,IS39335,IS41785 nsv891970 9 326186 370095 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551384 S 6533 0 1 DOCK8 MS18848 nsv891971 9 326186 372810 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517927 S 6533 1 0 DOCK8 SP57408 nsv437636 9 334229 337559 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467517 S 60 0 1 Samples from several populations that are part of the HapMap project. DOCK8 NA19120 esv33469 9 351747 361827 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98791 S 51 0 1 DOCK8 21606 nsv891972 9 362341 437887 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501931 S 6533 1 0 DOCK8 SP50984 esv2457024 9 369642 371269 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383589 S 1 0 1 DOCK8 NA18507 nsv891973 9 370856 419474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502664 S 6533 1 0 DOCK8 SP51309 esv2752307 9 372810 723212 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988944,essv6985787,essv6985788,essv6987261,essv6987260 M 771 1 0 DOCK8,KANK1 SPC_47 dgv7995n71 9 385025 675819 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891974,nsv891977 M 6533 2 0 DOCK8,KANK1 MS26123,SP57408 nsv891975 9 388673 472282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556670 S 6533 1 0 DOCK8 MS22104 esv2040312 9 393716 394145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4968595 S 1 0 1 DOCK8 NA18507 nsv416232 9 393897 393994 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434810 M 24 DOCK8 nsv891976 9 397575 508675 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588424 S 6533 1 0 DOCK8,KANK1 IS38193 esv24538 9 421871 423849 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10051 S 451 1 0 DOCK8 NA12828 nsv518784 9 447290 450072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696238 S 2026 0 1 DOCK8 dgv7996n71 9 456816 490810 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891978,nsv891979 M 6533 0 3 "" IS30378,IS36992,IS41964 esv2596199 9 459029 460421 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277816 S 1 0 1 "" NA18507 esv2007233 9 459246 459781 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577708 S 1 0 1 "" NA18507 esv2989 9 459365 459693 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25430 S 1 0 1 Single Asian sample YH "" YH nsv416638 9 459450 459629 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435216 M 24 "" dgv7997n71 9 474850 706570 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891980,nsv891987 M 6533 2 0 KANK1 MS14846,SP50984 nsv527958 9 479338 516772 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704468 S 2026 0 1 KANK1 esv25066 9 483440 484877 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13859 S 451 0 1 "" NA18508 dgv7998n71 9 490979 538464 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891981,nsv891982 M 6533 2 0 KANK1 IS37986,SP52329 nsv433253 9 493735 516772 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463134 S 9 0 1 Samples from several populations that are part of the HapMap project. KANK1 NA19129 nsv6452 9 495156 533550 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv788,nssv5146 M 9 0 2 KANK1 NA19129,NA19240 esv2169213 9 498413 499005 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743976 S 1 0 1 KANK1 NA18507 nsv416596 9 498545 498825 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435174 M 24 KANK1 esv2453106 9 498547 498827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204411 S 1 0 1 KANK1 NA18507 nsv891983 9 500546 624160 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506426 S 6533 1 0 KANK1 SP54345 nsv891984 9 500546 638943 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550567,nssv1531308,nssv1548465 M 6533 0 3 KANK1 MS10391,MS17857,MS18465 nsv499315 9 504141 517934 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586104 S 9 0 1 KANK1 esv27274 9 504311 517853 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18667 S 451 0 6 KANK1 NA18502,NA18517,NA18909,NA19129,NA19190,NA19240 nsv515144 9 504394 516664 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628001 S 1414 0 0 KANK1 nsv8404 9 504417 520198 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19051,nssv19482,nssv20684 M 31 0 3 Samples from several populations that are part of the HapMap project. KANK1 NA18502,NA18517,NA19240 nsv818669 9 505616 511172 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416371 S 112 0 1 KANK1 NA18855 dgv34n14 9 505616 516772 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433255,nsv433256 M 9 0 2 KANK1 NA18517,NA19240 dgv910n27 9 505616 516772 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466047,nsv466048,nsv466050 M 1557 0 3 KANK1 HGDP00458,HGDP00460,HGDP01202 nsv818670 9 505616 516772 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416466,nssv1416857,nssv1416858 M 112 0 3 KANK1 NA18517,NA19238,NA19240 esv2421734 9 505616 516993 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083099,essv5076660,essv5073768,essv5013735,essv5128110,essv5055345,essv5065413,essv5087441,essv5150252,essv5030671,essv5133789,essv5149281,essv5072541,essv5096393,essv5116595,essv5152527,essv5052664,essv5148202,essv5153181,essv5037450,essv5140481,essv5103412,essv5141426,essv5050695,essv5129734,essv5158076,essv5061701,essv5046373,essv5128070,essv5158998,essv5134378,essv5042010,essv5122670,essv5028205,essv5116859,essv5132817,essv5128790,essv5150414,essv5079672,essv5120159,essv5134341,essv5048074,essv5062653,essv5146114,essv5133297,essv5030089,essv5063154,essv5119114,essv5036082,essv5128684,essv5011682,essv5046107,essv5126709,essv5034924,essv5124612,essv5049159,essv5019770,essv5121586,essv5079978,essv5042495,essv5028175,essv5058766,essv5034689,essv5107842,essv5012807,essv5003709,essv5139724,essv5003696,essv5036571,essv5137023,essv5007009,essv5159705,essv5011449,essv5053338,essv5056623,essv5080136,essv5040101,essv5091465,essv5005720,essv5075189,essv5148219,essv5120402,essv5030271,essv5071697,essv5019955,essv5014425,essv5031354,essv5041959,essv5097347,essv5106057,essv5082895,essv5043152 M 1184 0 92 KANK1 NA18497,NA18499,NA18500,NA18517,NA18518,NA18520,NA18855,NA18859,NA18874,NA18909,NA18911,NA18913,NA18914,NA18934,NA18935,NA19027,NA19036,NA19038,NA19046,NA19095,NA19097,NA19122,NA19123,NA19128,NA19129,NA19190,NA19191,NA19238,NA19240,NA19257,NA19310,NA19311,NA19316,NA19318,NA19328,NA19347,NA19373,NA19374,NA19375,NA19380,NA19381,NA19382,NA19385,NA19404,NA19438,NA19449,NA19452,NA19457,NA19473,NA19703,NA19705,NA19908,NA19919,NA20291,NA20292,NA20301,NA20302,NA20356,NA20358,NA20504,NA20765,NA21303,NA21313,NA21356,NA21362,NA21371,NA21390,NA21391,NA21408,NA21418,NA21451,NA21457,NA21485,NA21487,NA21488,NA21489,NA21490,NA21509,NA21519,NA21520,NA21580,NA21613,NA21615,NA21620,NA21635,NA21678,NA21683,NA21693,NA21719,NA21722,NA21723,NA21768 nsv466051 9 505616 521565 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541689 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KANK1 HGDP01406 nsv517150 9 505616 521565 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689351,nssv653878,nssv662160,nssv660046,nssv660318,nssv674887,nssv689949,nssv656719,nssv680162,nssv672997,nssv654302,nssv659319,nssv653401,nssv658198,nssv653071,nssv684310,nssv676333,nssv669263,nssv655093,nssv660812,nssv684449,nssv670134,nssv672516,nssv665470,nssv677368,nssv670057,nssv666359,nssv693085,nssv676192,nssv673916,nssv666864,nssv687607,nssv678837,nssv693125,nssv664151,nssv655769,nssv663409,nssv657334,nssv666534,nssv685220,nssv662595,nssv665373,nssv651761,nssv671506,nssv666578,nssv678858,nssv654027,nssv668651,nssv652499,nssv681634 M 2026 0 50 KANK1 nsv442534 9 508099 516993 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KANK1 dgv7999n71 9 513495 607501 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891986,nsv891985 M 6533 2 0 KANK1 MS16708,SP52039 dgv2268e1 9 514413 843033 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv811,essv9111,essv12968 M 271 0 0 DMRT1,KANK1 NA18859,NA18860 nsv471268 9 520059 615737 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545771 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KANK1 HGDP01276 esv33737 9 534479 553315 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93596 S 51 0 1 KANK1 21972 esv4369 9 535035 535476 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26810 S 1 0 1 Single Asian sample YH KANK1 YH nsv528413 9 545293 546399 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705005 S 2026 1 0 KANK1 nsv891988 9 551143 598622 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561111 S 6533 0 1 KANK1 MS24854 nsv891989 9 554373 624862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542447 S 6533 1 0 KANK1 MS15782 dgv2269e1 9 554836 598703 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12945,essv13258 M 271 0 0 KANK1 NA19102,NA19201 nsv523525 9 558846 684511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699298 S 2026 1 0 KANK1 dgv8000n71 9 559038 613848 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv891993,nsv891991,nsv891990,nsv891992,nsv891994 M 6533 0 11 KANK1 IS30319,IS31766,IS33696,IS35445,IS36077,IS36789,IS38254,IS40944,IS41802,IS41903,MS23670 nsv528489 9 559892 559992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705094 S 2026 0 1 KANK1 nsv516951 9 559992 694075 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667274,nssv659551,nssv674448,nssv665053,nssv660704,nssv668299,nssv655747,nssv679035,nssv658940,nssv687238,nssv692086,nssv676801,nssv692504,nssv677515,nssv677686,nssv661462,nssv689695,nssv679414,nssv660047,nssv693926,nssv656991,nssv689012,nssv651800,nssv667017,nssv663018,nssv674111,nssv662161,nssv654044,nssv678658,nssv685006,nssv661311,nssv671163,nssv659320,nssv655200,nssv668652,nssv669950,nssv675102,nssv665757,nssv673744,nssv687422,nssv657310,nssv690720,nssv669314,nssv689352,nssv690428,nssv679107,nssv675275,nssv662829,nssv653493,nssv672278,nssv658039,nssv665644,nssv672203,nssv685921,nssv685470,nssv677045,nssv682411,nssv661953,nssv675342,nssv684292,nssv688119,nssv683443,nssv656296,nssv665194,nssv694495,nssv677887 M 2026 0 66 KANK1 nsv469655 9 561838 712561 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649583 M 265 0 0 Samples from several populations that are part of the HapMap project. KANK1 esv2294479 9 564200 564608 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4596355 S 1 0 1 KANK1 NA18507 esv1003494 9 564356 564356 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575926 S 3 1 0 KANK1 HuRef nsv466052 9 573025 598622 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541690 S 1557 0 1 KANK1 NINDS_55 nsv515145 9 580578 598547 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628002 S 1414 0 1 KANK1 esv26677 9 580617 598647 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14032 S 451 0 1 KANK1 NA19108 esv2421414 9 580735 598622 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5153564,essv5032320,essv5070410,essv5021712,essv5152775,essv5074808,essv5064924,essv5153121,essv5028948,essv5052282,essv5037719,essv5091955,essv5059184,essv5148571,essv5113356,essv5046278,essv5068245,essv5124865,essv5134906,essv5127509,essv5150159,essv5160228,essv5023690,essv5124587,essv5086368,essv5126985,essv5107940,essv5037701,essv5030305,essv5080835,essv5146842,essv5039687,essv5160783,essv5068773,essv5046827,essv5127650,essv5124482 M 1184 0 37 KANK1 NA18862,NA18863,NA18873,NA18875,NA18933,NA19102,NA19108,NA19109,NA19149,NA19159,NA19198,NA19201,NA19202,NA19210,NA19211,NA19235,NA19248,NA19249,NA19317,NA19319,NA19377,NA19396,NA19397,NA19428,NA19714,NA19915,NA20287,NA20288,NA20297,NA20347,NA20359,NA20360,NA21510,NA21597,NA21600,NA21601,NA21631 dgv911n27 9 580735 603908 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466057,nsv466062,nsv466055,nsv466053,nsv466056,nsv466058,nsv466054,nsv466059,nsv466063,nsv466064 M 1557 0 10 KANK1 1782681378_A,HGDP00456,HGDP00474,HGDP00478,HGDP00932,HGDP00942,HGDP01028,HGDP01415,HGDP01416,HGDP01419 nsv438086 9 581040 598622 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470049,nssv470051,nssv470050 M 269 0 2 Samples from several populations that are part of the HapMap project. KANK1 NA18862,NA19201 nsv471269 9 581094 598622 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545779,nssv545775,nssv545778,nssv545782,nssv545772,nssv545773,nssv545780,nssv545781,nssv545783,nssv545774,nssv545777 M 443 0 11 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KANK1 HGDP00456,HGDP00474,HGDP00478,HGDP00932,HGDP00942,HGDP00983,HGDP01028,HGDP01035,HGDP01415,HGDP01416,HGDP01419 nsv818671 9 581094 598622 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416764 S 112 0 1 KANK1 NA19159 dgv2270e1 9 581610 597901 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13299,essv14027,essv13373 M 271 0 0 KANK1 NA18862,NA19159,NA19202 essv15173 9 581610 603260 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KANK1 NA19210 dgv2271e1 9 581610 622131 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10616,essv11312 M 271 0 0 KANK1 NA18863,NA19211 nsv442535 9 581969 592903 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KANK1 esv34433 9 582757 597901 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979948,essv6989132 M 771 0 1 KANK1 NA18862 dgv2272e1 9 592204 728434 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16590,essv13109 M 271 0 0 KANK1 NA18859,NA18860 nsv8405 9 599060 695515 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20001,nssv20023,nssv16612,nssv19081,nssv17797 M 31 1 4 Samples from several populations that are part of the HapMap project. KANK1 NA11830,NA18504,NA18860,NA18942,NA19240 dgv255e55 9 602167 708872 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35002,esv34685 M 771 0 2 KANK1 NA18859,NA18860 esv26724 9 603917 604752 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21388 S 451 0 2 KANK1 NA12006,NA19240 nsv6453 9 606860 639030 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv789 S 9 0 1 KANK1 NA19240 dgv8001n71 9 611779 788773 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891996,nsv891995 M 6533 2 0 KANK1 MS25884,SP52039 nsv466065 9 625677 648446 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541703 S 1557 0 1 KANK1 1782681080_A esv2598675 9 631629 638997 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287521 S 1 0 1 KANK1 NA18507 esv2036921 9 632025 638425 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4578621 S 1 0 1 KANK1 NA18507 esv24675 9 632086 637903 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11666 S 451 0 5 KANK1 NA18505,NA18861,NA19099,NA19147,NA19240 nsv499181 9 632168 638240 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586105 S 9 0 1 KANK1 nsv515146 9 632197 637998 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628004 S 1414 0 1 KANK1 nsv437637 9 636078 646878 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467518 S 60 0 1 Samples from several populations that are part of the HapMap project. KANK1 NA18860 dgv8002n71 9 651057 675819 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv891998,nsv891997 M 6533 2 0 KANK1 MS15782,SP54345 esv994244 9 663036 663557 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587045 S 3 1 0 KANK1 HuRef nsv437638 9 665377 676753 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467519 S 60 0 1 Samples from several populations that are part of the HapMap project. KANK1 NA18860 nsv438087 9 665600 685607 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470054,nssv470053 M 269 0 2 Samples from several populations that are part of the HapMap project. KANK1 NA18859,NA18860 nsv891999 9 665600 721332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538842 S 6533 0 1 KANK1 MS13783 nsv892000 9 668951 962476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545205 S 6533 1 0 DMRT1,KANK1 MS16708 nsv437639 9 676753 691026 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467520 S 60 0 1 Samples from several populations that are part of the HapMap project. KANK1 NA18860 nsv892001 9 676753 831152 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586859 S 6533 1 0 KANK1 IS37986 nsv892002 9 686683 740892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532911 S 6533 1 0 KANK1 MS10941 nsv512082 9 696907 700447 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624637 S 1 0 1 KANK1 1 esv2446874 9 697114 698850 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177890 S 1 0 1 KANK1 NA18507 esv29163 9 697446 698376 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19024 S 451 0 7 KANK1 NA11995,NA12006,NA18508,NA18916,NA19099,NA19108,NA19129 nsv820823 9 697446 698376 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420795 S 1 0 1 KANK1 NA10851 esv1112743 9 697562 697676 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4015149 S 2 0 1 KANK1 HuRef nsv416517 9 697616 698299 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435095 M 24 KANK1 esv1583205 9 697937 697994 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3931545 S 2 0 1 KANK1 HuRef esv993787 9 697990 698160 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568302 S 3 0 1 KANK1 HuRef nsv516314 9 714217 723049 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688434,nssv667513 M 2026 0 2 KANK1 nsv529028 9 715147 766739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705739 S 2026 1 0 KANK1 nsv831491 9 784113 964142 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447539 S 95 1 0 DMRT1 nsv512982 9 807557 808519 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625637 S 1 1 0 "" 1 esv1683888 9 807694 807694 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4022210 S 2 1 0 "" HuRef dgv8003n71 9 812594 853635 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892006,nsv892003 M 6533 0 2 DMRT1 IS32322,IS33504 nsv892004 9 818348 853635 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503343 S 6533 1 0 DMRT1 SP52039 nsv892005 9 822711 843004 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561132 S 6533 1 0 DMRT1 MS24864 dgv8004n71 9 823828 873226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892011,nsv892008,nsv892007 M 6533 0 7 DMRT1 IS40627,IS41581,MS14485,MS18375,MS19226,MS19584,MS20612 nsv892009 9 831152 937880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526893 S 6533 0 1 DMRT1 SP57951 nsv892010 9 831152 1059663 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542449 S 6533 1 0 DMRT1,DMRT2,DMRT3 MS15782 nsv510176 9 834839 840839 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622171,nssv618305 M 4 0 2 DMRT1 CHM,NA10860 esv2570062 9 838204 839273 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198174 S 1 1 0 DMRT1 NA18507 esv1315505 9 844855 844855 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248616 S 2 1 0 DMRT1 HuRef nsv436609 9 868258 872957 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466501 S 2 0 1 Samples from several populations that are part of the HapMap project. DMRT1 NA18505 esv1992620 9 878481 878925 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971782 S 1 0 1 DMRT1 NA18507 nsv824814 9 892012 892604 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441384 S 31 0 1 DMRT1 NA18547 nsv892012 9 898750 922875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520154 S 6533 1 0 DMRT1 SP50709 nsv6455 9 908351 944194 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8576 S 9 0 1 DMRT1 NA12156 nsv892013 9 933611 1037343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503344 S 6533 1 0 DMRT1,DMRT3 SP52039 nsv892014 9 962476 1022153 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552563 S 6533 1 0 DMRT3 MS19489 esv1659831 9 988561 988561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3797654 S 2 1 0 "" HuRef nsv512983 9 989334 989413 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625638 S 1 1 0 "" 1 nsv507501 9 1032336 1038336 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617785,nssv620442,nssv621936,nssv623064 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1296928 9 1035135 1035135 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140395 S 2 1 0 "" HuRef dgv2273e1 9 1045347 1519128 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv807,essv22494 M 271 0 0 DMRT2 NA11882 dgv8005n71 9 1046101 1090738 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892016,nsv892015 M 6533 2 0 DMRT2 IS37986,SP52039 esv2752273 9 1052218 1814888 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986286,essv6982857,essv6988594,essv6986287 M 771 1 0 "" BEC_605 nsv892017 9 1063148 1087089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545206 S 6533 1 0 "" MS16708 esv2560855 9 1063975 1065394 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329915 S 1 0 1 "" NA18507 nsv525810 9 1070866 1071038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701994 S 2026 0 1 "" nsv892018 9 1114136 1225993 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586861 S 6533 1 0 "" IS37986 nsv437640 9 1151738 1153046 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467521 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19103 esv27441 9 1153464 1153990 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18400 S 451 0 1 "" NA12239 essv24316 9 1173321 1403700 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11882 esv34351 9 1174213 1403700 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989512,essv6978537,essv6978536,essv6989030 M 771 0 1 "" NA11882 nsv892019 9 1175525 1211840 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545207 S 6533 1 0 "" MS16708 nsv892020 9 1179365 1255994 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503346 S 6533 1 0 "" SP52039 nsv818672 9 1190036 1394430 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418086 S 112 0 1 "" NA11882 nsv824815 9 1190679 1191120 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433785 S 31 1 0 "" NA18526 nsv416748 9 1233418 1233502 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435326 M 24 "" nsv8406 9 1238354 1252348 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19512 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv892021 9 1260931 1329391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545208 S 6533 1 0 "" MS16708 esv274650 9 1267729 1268075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579056 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv518691 9 1287287 1287949 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696142 S 2026 0 1 "" nsv510177 9 1318994 1324994 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621349,nssv624074,nssv618306 M 4 0 3 "" CHM,NA15510,NA18994 nsv892022 9 1331674 1418059 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586862 S 6533 1 0 "" IS37986 nsv892023 9 1372861 1458923 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539732 S 6533 0 1 "" MS14485 dgv8006n71 9 1403540 1493356 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892024,nsv892025 M 6533 0 2 "" MS15427,SP57009 nsv892026 9 1406909 1461838 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545209 S 6533 1 0 "" MS16708 nsv892027 9 1429567 1464523 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576545 S 6533 0 1 "" IS34111 dgv474n21 9 1436459 1440428 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516907,nsv528289 M 2026 0 39 "" dgv60n50 9 1436459 1444200 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512083,nsv511416 M 1 0 1 "" 1 esv2421362 9 1436987 1440428 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5007037,essv5133414,essv5016281,essv5132317,essv5071786,essv5157947,essv5158609,essv5106023,essv5114881,essv5076132,essv5149975,essv5022779,essv5007320,essv5083500 M 1184 0 14 "" NA06984,NA12335,NA12340,NA12344,NA12348,NA20505,NA20795,NA20846,NA20858,NA20859,NA20884,NA21091,NA21107,NA21478 dgv8007n71 9 1439326 1476005 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892029,nsv892028 M 6533 0 2 "" IS37458,IS38505 nsv516586 9 1465940 1477108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669397,nssv660045,nssv697121 M 2026 0 3 "" nsv892030 9 1480577 1497712 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545210 S 6533 1 0 "" MS16708 nsv892031 9 1480830 1495268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499218 S 6533 0 1 "" SP50128 nsv892032 9 1481213 1528884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560838 S 6533 0 1 "" MS24732 nsv466066 9 1489641 1503917 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541704 S 1557 0 1 "" NINDS_163 nsv522460 9 1489641 1503917 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705824 S 2026 0 1 "" nsv892033 9 1491977 1557276 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536966,nssv1550190,nssv1547463 M 6533 0 3 "" MS13040,MS17389,MS18352 nsv437641 9 1493647 1506692 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467522 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18872 nsv438088 9 1500299 1516383 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470056,nssv470055 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18870,NA18872 esv25614 9 1517196 1517745 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13013 S 451 1 0 "" NA12878 nsv892034 9 1546054 1601081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545211 S 6533 1 0 "" MS16708 nsv892035 9 1546054 1813605 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553399 S 6533 1 0 "" MS20011 nsv892036 9 1558941 1649913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561999 S 6533 0 1 "" MS25308 nsv892037 9 1595735 1697518 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553244 S 6533 0 1 "" MS19852 nsv524182 9 1607716 1652585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700064 S 2026 0 1 "" nsv892038 9 1618468 1644030 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560159 S 6533 0 1 "" MS24350 esv267554 9 1621796 1622140 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557986,essv2565679,essv2576073,essv2540694,essv2521224,essv2542287,essv2536545,essv2543855,essv2568155,essv2523220,essv2531907,essv2548631,essv2521567,essv2525263,essv2535004,essv2529238,essv2558266,essv2577707,essv2530891,essv2561869,essv2557395,essv2557011,essv2552650,essv2551873,essv2569545,essv2578635,essv2536874,essv2539146,essv2569752,essv2527131,essv2544655,essv2562899,essv2552845,essv2540229,essv2524483,essv2564878,essv2534529,essv2539715,essv2519747,essv2560023,essv2521977,essv2566034,essv2530965,essv2532536,essv2567913,essv2567574,essv2541657,essv2563913,essv2553129,essv2535642,essv2572311,essv2559269,essv2566793,essv2551140,essv2568859,essv2539421,essv2533834,essv2578479,essv2573081,essv2555564,essv2567212,essv2574040,essv2555854,essv2534398,essv2522550,essv2573490,essv2543358,essv2529565,essv2575673,essv2575210,essv2526366,essv2560734,essv2523962,essv2574581,essv2530371,essv2568838,essv2545836,essv2536272,essv2549091,essv2554684,essv2547754,essv2524831 M 157 82 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11894,NA11919,NA11920,NA11992,NA11995,NA12004,NA12006,NA12045,NA12144,NA12156,NA12249,NA12749,NA12750,NA12761,NA12873,NA12874,NA18499,NA18501,NA18502,NA18504,NA18508,NA18510,NA18517,NA18519,NA18520,NA18522,NA18526,NA18532,NA18542,NA18552,NA18555,NA18558,NA18561,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18858,NA18861,NA18912,NA18916,NA18940,NA18942,NA18945,NA18947,NA18951,NA18956,NA18959,NA18960,NA18964,NA18965,NA19093,NA19099,NA19102,NA19114,NA19116,NA19129,NA19138,NA19141,NA19147,NA19239 esv274502 9 1621798 1622150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578946 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv21480 9 1629550 1630161 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16296 S 451 2 0 "" NA12287,NA12776 nsv892039 9 1653954 1705256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545212 S 6533 1 0 "" MS16708 esv269058 9 1655586 1655926 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496797,essv2511813,essv2510669,essv2504261,essv2493721,essv2505189,essv2512183,essv2501821,essv2498027,essv2502173 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18499,NA18501,NA18505,NA18517,NA18853,NA19238,NA19239,NA19240,NA19257 esv273274 9 1655592 1655927 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584339,essv2583428 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv892040 9 1662167 1749486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586863 S 6533 1 0 "" IS37986 esv2611170 9 1679637 1681197 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299434 S 1 0 1 "" NA18507 nsv892041 9 1680810 1749486 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535351 S 6533 0 1 "" MS12170 nsv522744 9 1697518 1697568 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698378 S 2026 0 1 "" nsv824816 9 1698103 1699003 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434544,nssv1428450,nssv1422739 M 31 0 3 "" AK10,NA18552,NA18570 esv25087 9 1706975 1710283 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17609,esv16179 M 451 2 0 "" NA12156,NA12776 nsv892042 9 1711385 1752597 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598557,nssv1564080 M 6533 2 0 "" IS30160,IS40943 nsv466067 9 1721076 1749811 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541705 S 1557 1 0 "" 1780862176_A nsv892043 9 1767728 1862709 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581011 S 6533 1 0 "" IS35487 nsv892044 9 1767728 1884388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523191 S 6533 0 1 "" SP53759 nsv892045 9 1774090 1805727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542450 S 6533 1 0 "" MS15782 nsv526553 9 1779663 1783162 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702867 S 2026 0 1 "" esv1334632 9 1795194 1795194 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3646505 S 2 1 0 "" HuRef nsv466068 9 1826746 1935517 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541706 S 1557 1 0 "" 1780862125_A esv271626 9 1840707 1841029 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2539999,essv2557199,essv2552392,essv2551696,essv2569358,essv2558908,essv2569140,essv2543751,essv2575468,essv2526449,essv2560893,essv2574710,essv2530363,essv2572729,essv2545212,essv2560395,essv2549770,essv2551205 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18501,NA18502,NA18504,NA18508,NA18516,NA18861,NA18870,NA19099,NA19114,NA19137,NA19138,NA19141,NA19143,NA19172,NA19190,NA19225,NA19257 nsv892046 9 1871124 1955945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503347 S 6533 1 0 "" SP52039 nsv831493 9 1875733 2064135 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447541 S 95 1 0 SMARCA2 nsv892047 9 1878703 2008825 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581012 S 6533 1 0 SMARCA2 IS35487 nsv892048 9 1878703 2167391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553400 S 6533 1 0 SMARCA2 MS20011 nsv892049 9 1905483 1953237 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503739 S 6533 0 1 "" SP52101 dgv8008n71 9 1918694 1998021 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892050,nsv892051 M 6533 3 0 "" MS15782,MS16708,SP51237 nsv892052 9 1970819 2062470 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586864 S 6533 1 0 SMARCA2 IS37986 esv2431394 9 1990391 1991984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316913 S 1 0 1 "" NA18507 esv2104873 9 1990777 1991500 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4796872 S 1 0 1 "" NA18507 dgv912n27 9 2008825 2059765 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466073,nsv466071,nsv466069 M 1557 0 3 SMARCA2 1780862100_A,1780862345_A,1780862414_A nsv466070 9 2014639 2034721 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541708 S 1557 0 1 SMARCA2 1780862101_A nsv892053 9 2014639 2052014 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564021 S 6533 0 1 SMARCA2 IS30146 nsv892054 9 2026158 2054507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554295 S 6533 0 1 SMARCA2 MS20710 nsv466076 9 2032083 2073755 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541712 S 1557 0 1 SMARCA2 1780862093_A nsv518473 9 2034721 2044409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695909 S 2026 0 1 SMARCA2 nsv892055 9 2034721 2130161 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581013 S 6533 1 0 SMARCA2 IS35487 nsv824817 9 2035363 2039588 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441395 S 31 1 0 SMARCA2 NA18547 nsv516236 9 2055892 2058747 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666983,nssv669106,nssv670188,nssv704909 M 2026 0 4 SMARCA2 dgv8009n71 9 2114140 2231994 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892057,nsv892056 M 6533 2 0 SMARCA2 IS37986,SP52039 nsv466077 9 2127725 2147934 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541713 S 1557 0 1 SMARCA2 NINDS_104 nsv824818 9 2136861 2144396 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431460 S 31 0 1 SMARCA2 AK18 esv24291 9 2138145 2141403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16412 S 451 0 1 SMARCA2 NA12239 nsv515132 9 2138319 2140568 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628005 S 1414 0 1 SMARCA2 nsv442128 9 2138837 2140663 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SMARCA2 nsv6456 9 2158853 2168719 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10650 S 9 1 0 SMARCA2 NA18956 nsv892058 9 2162726 2184805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542452 S 6533 1 0 SMARCA2 MS15782 esv275020 9 2170510 2170636 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585702,essv2585491 M 1250 1 1 SMARCA2 nsv518986 9 2177750 2181246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696454 S 2026 0 1 SMARCA2 nsv892059 9 2188627 2245397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601192 S 6533 0 1 "" IS41982 nsv892060 9 2208129 2251944 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541064 S 6533 0 1 "" MS15191 nsv466078 9 2208129 2611030 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541714 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FLJ35024 HGDP00759 nsv6457 9 2218493 2261756 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8577 S 9 0 1 "" NA12156 nsv892061 9 2219694 2252889 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545214 S 6533 1 0 "" MS16708 nsv526664 9 2243678 2244498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702993 S 2026 0 1 "" nsv466079 9 2251944 2264492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541715 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00796 esv23844 9 2276439 2278022 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19182 S 451 0 3 "" NA18523,NA18907,NA19190 nsv892062 9 2281635 2320643 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503349 S 6533 1 0 "" SP52039 dgv8010n71 9 2281635 2437910 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892064,nsv892063 M 6533 2 0 "" MS15782,MS16708 nsv466080 9 2308486 2422800 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541716 S 1557 0 1 "" 1782681317_A nsv892065 9 2332366 2414322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506412 S 6533 0 1 "" SP54345 esv25542 9 2338841 2339573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14197 S 451 0 1 "" NA12006 esv991496 9 2338841 2339573 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586191 S 3 1 0 "" HuRef esv2603635 9 2341088 2342083 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268747 S 1 1 0 "" NA18507 esv267665 9 2341269 2341600 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557882,essv2565674,essv2541058,essv2571767,essv2546403,essv2521403,essv2526004,essv2570786,essv2556637,essv2568295,essv2545539,essv2523405,essv2548599,essv2521510,essv2576618,essv2550598,essv2535159,essv2553922,essv2551989,essv2529344,essv2558520,essv2576274,essv2563995,essv2530615,essv2561873,essv2520970,essv2557394,essv2556918,essv2552335,essv2532339,essv2569526,essv2537128,essv2538987,essv2569669,essv2527089,essv2561661,essv2544859,essv2523652,essv2552937,essv2541231,essv2534598,essv2561248,essv2519609,essv2559800,essv2566133,essv2532562,essv2551015,essv2568843,essv2543422,essv2556259,essv2562278,essv2539502,essv2533884,essv2555460,essv2534412,essv2573736,essv2525555,essv2575691,essv2575019,essv2538496,essv2574819,essv2530425,essv2572622,essv2568836,essv2548083,essv2549638,essv2571383,essv2545991,essv2574196,essv2551548,essv2538128,essv2533108,essv2554385,essv2548017,essv2524878 M 157 75 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA07347,NA07357,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11993,NA11994,NA11995,NA12003,NA12004,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12489,NA12749,NA12750,NA12814,NA12828,NA12873,NA12874,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18537,NA18542,NA18545,NA18561,NA18562,NA18566,NA18570,NA18572,NA18576,NA18858,NA18861,NA18870,NA18871,NA18909,NA18912,NA18916,NA18943,NA18959,NA18964,NA18980,NA19099,NA19102,NA19108,NA19138,NA19141,NA19143,NA19147,NA19210,NA19225,NA19238,NA19239,NA19240,NA19257 esv272510 9 2341270 2341599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581887,essv2582661,essv2584100,essv2584660 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239 esv1003646 9 2341286 2341286 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573366 S 3 1 0 "" HuRef esv1240597 9 2341303 2341303 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4163117 S 2 1 0 "" HuRef nsv466081 9 2343522 2586783 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541717 S 1557 1 0 FLJ35024 1780862125_A nsv415429 9 2387101 2387101 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434007 M 24 "" nsv892066 9 2387564 2579739 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586866 S 6533 1 0 FLJ35024 IS37986 nsv466082 9 2393909 2411273 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541718 S 1557 0 1 "" NINDS_134 nsv892067 9 2406895 2505607 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525281 S 6533 1 0 "" SP56390 nsv892068 9 2533888 2579739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558714 S 6533 0 1 FLJ35024 MS23495 esv1360174 9 2560450 2560450 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808819 S 2 1 0 FLJ35024 HuRef nsv525208 9 2579864 2584577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701290 S 2026 0 1 FLJ35024 nsv892069 9 2590836 2621738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525282 S 6533 1 0 FLJ35024,VLDLR SP56390 nsv892070 9 2600307 2623921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503350 S 6533 1 0 FLJ35024,VLDLR SP52039 nsv518550 9 2608969 2611030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695993 S 2026 0 1 FLJ35024 nsv892071 9 2608969 2616031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509928 S 6533 0 1 FLJ35024,VLDLR SP54956 nsv892072 9 2609915 2613253 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510777 S 6533 0 1 FLJ35024,VLDLR SP54988 nsv824819 9 2610547 2613694 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441407 S 31 1 0 FLJ35024,VLDLR NA18547 nsv892073 9 2610592 2617365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503559 S 6533 1 0 FLJ35024,VLDLR SP52077 nsv527298 9 2611030 2621092 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703716 S 2026 0 1 FLJ35024,VLDLR nsv892074 9 2613615 2619776 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506593 S 6533 0 1 VLDLR SP54381 nsv892075 9 2635109 2641809 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504696 S 6533 0 1 VLDLR SP52708 nsv892076 9 2635651 2643719 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503803 S 6533 1 0 VLDLR SP52113 nsv892077 9 2653639 2680980 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503351 S 6533 1 0 "" SP52039 nsv892078 9 2658085 2695874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547783,nssv1552547,nssv1532802,nssv1548006,nssv1544478,nssv1561486,nssv1554226,nssv1544383,nssv1537392,nssv1540911 M 6533 0 10 "" MS10867,MS13179,MS15090,MS16323,MS16355,MS17554,MS17677,MS19488,MS20671,MS25038 nsv466084 9 2671397 2700537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541719 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00986 nsv892079 9 2671430 2921341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553470 S 6533 1 0 KCNV2,KIAA0020 MS20041 dgv913n27 9 2680980 2700537 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466085,nsv466086 M 1557 0 2 "" HGDP00460,HGDP00469 nsv471270 9 2680980 2701636 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545786,nssv545784,nssv545785 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460,HGDP00469,HGDP00986 nsv516425 9 2680980 2780307 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700988,nssv694552,nssv674844,nssv668433,nssv668287,nssv657571,nssv699054,nssv662583,nssv694398 M 2026 1 8 KCNV2 nsv892080 9 2681186 2711249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586867 S 6533 1 0 KCNV2 IS37986 dgv8011n71 9 2681186 2841026 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892081,nsv892082 M 6533 2 0 KCNV2,KIAA0020 MS15782,MS16708 nsv466087 9 2736548 2780307 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541722 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01338 esv2478951 9 2771169 2771748 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388961 S 1 1 0 "" NA18507 nsv512984 9 2771387 2772102 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625639 S 1 1 0 "" 1 nsv892083 9 2799548 2890651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544057 S 6533 1 0 KIAA0020 MS16214 esv2594391 9 2803485 2804669 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298363 S 1 1 0 KIAA0020 NA18507 nsv892084 9 2843103 2899883 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503352 S 6533 1 0 "" SP52039 nsv507502 9 2875491 2881491 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617786 S 4 1 0 "" CHM esv271485 9 2902061 2902322 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511797,essv2501116,essv2513450,essv2509173,essv2497560,essv2496975 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18516,NA18907,NA18909,NA19147,NA19190 dgv8012n71 9 2927654 3205842 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892088,nsv892085 M 6533 2 0 "" IS37986,SP52039 dgv2274e1 9 2955090 2975743 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1802,esv1177 M 271 0 0 "" NA18971 nsv466088 9 2962380 2968377 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541723 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00197 esv2563258 9 2982426 2982667 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300790 S 1 0 1 "" NA18507 nsv831494 9 2997268 3162056 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447542 S 95 0 1 "" nsv892086 9 3002276 3400838 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542455 S 6533 1 0 RFX3 MS15782 nsv525902 9 3004254 3012906 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702106 S 2026 0 1 "" nsv892087 9 3004702 3143178 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553471 S 6533 1 0 "" MS20041 esv1048873 9 3029517 3029517 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224225 S 2 1 0 "" HuRef esv1719545 9 3029713 3029713 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3640039 S 2 1 0 "" HuRef esv2504368 9 3067751 3069287 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5361119 S 1 0 1 "" NA18507 esv2270977 9 3068273 3068976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996386 S 1 0 1 "" NA18507 nsv892089 9 3280569 3568094 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586869 S 6533 1 0 RFX3 IS37986 nsv466091 9 3339487 3379660 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541724 S 1557 0 1 RFX3 NINDS_147 nsv416089 9 3356754 3356754 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434667 M 24 RFX3 nsv892090 9 3381364 3486660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557763 S 6533 0 1 RFX3 MS22858 nsv892091 9 3449635 3498284 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506862 S 6533 0 1 RFX3 SP54409 nsv522711 9 3470671 3490471 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706124 S 2026 1 0 RFX3 esv1255308 9 3494671 3494671 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086979 S 2 1 0 RFX3 HuRef nsv415859 9 3495339 3495339 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434437 M 24 RFX3 esv2477708 9 3513180 3514864 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327973 S 1 0 1 RFX3 NA18507 nsv510178 9 3545012 3551012 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624075 S 4 0 1 "" NA18994 nsv892092 9 3555211 3677942 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503354 S 6533 1 0 "" SP52039 nsv892093 9 3603712 3686874 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502050 S 6533 0 1 "" SP50761 nsv892094 9 3621008 3773874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545217 S 6533 1 0 "" MS16708 nsv892095 9 3640174 3739196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586870 S 6533 1 0 "" IS37986 esv1320495 9 3646602 3646809 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3723398 S 2 0 1 "" HuRef nsv892096 9 3731507 3767523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503355 S 6533 1 0 "" SP52039 esv269801 9 3757662 3758007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510611,essv2504084,essv2498431,essv2501438,essv2502125 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18858,NA19093,NA19257 nsv892097 9 3769330 3836792 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586871 S 6533 1 0 GLIS3 IS37986 esv2636838 9 3769803 3771370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5384394 S 1 0 1 "" NA18507 nsv512084 9 3769835 3771601 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624639 S 1 0 1 "" 1 esv2120462 9 3770548 3771156 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502633 S 1 0 1 "" NA18507 esv3501 9 3770566 3771028 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25942 S 1 0 1 Single Asian sample YH "" YH esv1759482 9 3770632 3770958 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749634 S 2 0 1 "" HuRef esv7001 9 3770634 3770971 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29442 S 1 0 1 "" SJK nsv892098 9 3800281 3914565 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503356 S 6533 1 0 GLIS3,GLIS3-AS1 SP52039 nsv528551 9 3856465 3856849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705164 S 2026 0 1 GLIS3 nsv892099 9 3856849 3914565 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586872 S 6533 1 0 GLIS3,GLIS3-AS1 IS37986 esv2218450 9 3858629 3859060 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4832935 S 1 0 1 GLIS3 NA18507 esv2423311 9 3866226 3867145 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257322 S 1 1 0 GLIS3 NA18507 nsv892100 9 3926368 3961303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545218 S 6533 1 0 GLIS3 MS16708 nsv892101 9 3930622 3948159 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586873 S 6533 1 0 GLIS3 IS37986 nsv892102 9 3934989 3954494 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503357 S 6533 1 0 GLIS3 SP52039 nsv892103 9 3952983 4059657 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586874 S 6533 1 0 GLIS3 IS37986 nsv518476 9 3961303 3963853 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695913 S 2026 0 1 GLIS3 dgv2275e1 9 3998954 4012297 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10957,esv1227 M 271 0 0 GLIS3 NA19092 nsv438089 9 4006814 4009224 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470057,nssv470058 M 269 0 2 Samples from several populations that are part of the HapMap project. GLIS3 NA19092,NA19093 nsv892104 9 4011386 4069470 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545219 S 6533 1 0 GLIS3 MS16708 nsv892105 9 4022747 4199053 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503358 S 6533 1 0 GLIS3 SP52039 nsv6458 9 4026720 4060165 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8578 S 9 1 0 GLIS3 NA12156 nsv519359 9 4036569 4040630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686437,nssv655621 M 2026 0 2 GLIS3 nsv416336 9 4043650 4043705 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434914 M 24 GLIS3 esv2105371 9 4064893 4065318 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4877603 S 1 0 1 GLIS3 NA18507 esv2442988 9 4065062 4065147 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5296563 S 1 0 1 GLIS3 NA18507 esv275424 9 4073552 4084321 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585214,essv2585379 M 1250 1 1 GLIS3 nsv892106 9 4079046 4089510 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586875 S 6533 1 0 GLIS3 IS37986 nsv892107 9 4093728 4117491 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545220 S 6533 1 0 GLIS3 MS16708 nsv517705 9 4104353 4108111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686542,nssv652914,nssv665193,nssv677438,nssv674110 M 2026 0 5 GLIS3 nsv892108 9 4107602 4193214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586876 S 6533 1 0 GLIS3 IS37986 nsv520350 9 4193214 4348255 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663100,nssv672852,nssv704738,nssv703731,nssv699984 M 2026 2 3 GLIS3 esv22225 9 4196045 4199502 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20038,esv14438 M 451 0 3 GLIS3 NA12287,NA12828,NA12878 nsv892109 9 4204311 4277179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586877 S 6533 1 0 GLIS3 IS37986 nsv524574 9 4209259 4533307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700530 S 2026 1 0 GLIS3,SLC1A1 nsv892110 9 4223259 4331704 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503359 S 6533 1 0 GLIS3 SP52039 esv272802 9 4227084 4227358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579972 S 7 1 0 Samples from several populations that are part of the HapMap project. GLIS3 NA12892 esv268661 9 4227112 4227416 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565565,essv2571758,essv2546310,essv2525908,essv2536615,essv2522659,essv2543839,essv2556805,essv2568132,essv2545456,essv2531799,essv2577450,essv2570652,essv2548169,essv2521833,essv2550684,essv2550346,essv2535369,essv2551961,essv2558296,essv2564400,essv2559664,essv2564014,essv2555114,essv2547042,essv2540199,essv2553065,essv2541285,essv2538466,essv2540568,essv2534647,essv2561082,essv2532677,essv2567854,essv2541758,essv2570201,essv2563646,essv2535715,essv2559160,essv2556441,essv2539493,essv2578411,essv2555239,essv2533748,essv2555523,essv2567216,essv2566448,essv2530141,essv2573888,essv2531457,essv2543394,essv2573290,essv2574702,essv2538116,essv2533363,essv2547780,essv2563531 M 157 57 0 Samples from several populations that are part of the HapMap project. GLIS3 NA07000,NA07051,NA07347,NA10847,NA11829,NA11840,NA11881,NA11918,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12006,NA12043,NA12044,NA12045,NA12144,NA12155,NA12234,NA12249,NA12489,NA12750,NA12751,NA12776,NA12828,NA12872,NA12892,NA18489,NA18542,NA18545,NA18547,NA18552,NA18561,NA18562,NA18576,NA18577,NA18592,NA18593,NA18603,NA18608,NA18638,NA18871,NA18912,NA18940,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18961,NA18965,NA18969,NA19138 nsv892111 9 4229545 4277179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542456 S 6533 1 0 GLIS3 MS15782 esv27658 9 4248320 4249510 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10516 S 451 0 1 GLIS3 NA19190 nsv892112 9 4251758 4428240 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522504 S 6533 1 0 GLIS3 SP53184 nsv892113 9 4311558 4373319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545505 S 6533 0 1 "" MS16821 dgv8013n71 9 4319330 4436307 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892114,nsv892115 M 6533 0 2 "" MS13232,MS24003 nsv527431 9 4321717 4437405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703870 S 2026 0 1 "" esv2475162 9 4329303 4330215 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342122 S 1 1 0 "" NA18507 esv2572572 9 4336133 4337603 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335462 S 1 0 1 "" NA18507 esv1965924 9 4336488 4337156 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4900793 S 1 0 1 "" NA18507 esv4226 9 4336611 4337072 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26667 S 1 0 1 Single Asian sample YH "" YH nsv416309 9 4336659 4336969 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434887 M 24 "" esv2579064 9 4336669 4336979 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242772 S 1 0 1 "" NA18507 esv1236390 9 4336671 4336982 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999484 S 2 0 1 "" HuRef esv6943 9 4336672 4336971 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29384 S 1 0 1 "" SJK nsv512085 9 4337194 4338343 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624640 S 1 0 1 "" 1 nsv892116 9 4342193 4361844 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542457 S 6533 1 0 "" MS15782 esv2477920 9 4365824 4368362 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5337789 S 1 0 1 "" NA18507 esv29516 9 4366094 4367777 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20351,esv18038 M 451 15 2 "" NA06985,NA11894,NA11931,NA11995,NA12044,NA12239,NA12287,NA12749,NA12776,NA15510,NA18502,NA18505,NA18909,NA19108,NA19114,NA19147,NA19225 nsv824821 9 4366094 4367777 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426837,nssv1429959,nssv1428063,nssv1425124,nssv1430715,nssv1421866,nssv1435992,nssv1424355,nssv1435234,nssv1432206,nssv1427763,nssv1441210,nssv1432998,nssv1437582,nssv1434186,nssv1433787 M 31 0 16 "" AK14,AK16,AK2,AK20,AK6,NA18526,NA18566,NA18582,NA18592,NA18942,NA18947,NA18949,NA18968,NA18969,NA18972,NA18997 esv2281329 9 4366225 4367824 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624880 S 1 0 1 "" NA18507 esv3838 9 4366389 4367724 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26279 S 1 0 1 Single Asian sample YH "" YH nsv820712 9 4366400 4367777 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420796 S 1 0 1 "" NA10851 nsv892117 9 4376423 4464620 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503360 S 6533 1 0 "" SP52039 nsv516546 9 4385314 4407219 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673119,nssv669047 M 2026 2 0 "" esv21631 9 4387534 4388316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13407 S 451 0 1 "" NA18505 esv2098972 9 4395955 4396398 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4741595 S 1 0 1 "" NA18507 esv2645485 9 4396140 4396211 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283192 S 1 0 1 "" NA18507 dgv914n27 9 4400854 4433086 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466092,nsv466093 M 1557 0 2 "" HGDP01253,HGDP01276 nsv471272 9 4400854 4433086 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545788,nssv545789 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01253,HGDP01276 dgv8014n71 9 4428585 4542653 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892119,nsv892118 M 6533 2 0 SLC1A1 MS15782,MS16708 esv29832 9 4444463 4448263 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15415 S 451 0 1 "" NA18858 nsv892120 9 4482098 4516642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562462 S 6533 1 0 SLC1A1 MS25603 nsv892121 9 4482098 4553316 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586878 S 6533 1 0 SLC1A1 IS37986 nsv818673 9 4489426 4492575 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416374,nssv1416373 M 112 0 2 SLC1A1 NA18855,NA18857 esv22769 9 4491098 4493959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21363 S 451 0 2 SLC1A1 NA18916,NA19108 nsv515747 9 4491492 4492575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691930,nssv667457,nssv673699,nssv669880,nssv675805,nssv685859,nssv684727,nssv676226,nssv664665,nssv671317,nssv674041,nssv660317,nssv678526 M 2026 0 13 SLC1A1 dgv8015n71 9 4506598 4519671 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892123,nsv892122 M 6533 0 3 SLC1A1 IS33760,IS40346,IS40416 nsv8407 9 4516442 4556030 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16997 S 31 0 1 Samples from several populations that are part of the HapMap project. SLC1A1 NA18563 nsv466095 9 4516796 4519671 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541728 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SLC1A1 HGDP00750 nsv517270 9 4516796 4519671 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682583,nssv654171,nssv685189 M 2026 0 3 SLC1A1 nsv818674 9 4516796 4519671 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417734,nssv1417334 M 112 0 2 SLC1A1 NA18609,NA19003 esv2422074 9 4516796 4519873 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5096636,essv5158284,essv5071055,essv5087855,essv5076783,essv5148107,essv5123948,essv5160899,essv5015257,essv5085237,essv5064711,essv5053684,essv5052996,essv5028396,essv5091778,essv5149554,essv5113814,essv5122496,essv5116356,essv5155213 M 1184 0 20 SLC1A1 NA17980,NA18106,NA18141,NA18150,NA18524,NA18534,NA18563,NA18609,NA18616,NA18630,NA18635,NA18702,NA18749,NA18757,NA19057,NA19059,NA19081,NA19085,NA19682,NA19683 nsv824822 9 4517213 4521199 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432207 S 31 0 1 SLC1A1 AK20 dgv2276e1 9 4517262 4518816 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv753,essv7238,esv1380 M 271 0 0 SLC1A1 NA18635,NA19003 nsv442536 9 4518770 4519873 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 SLC1A1 nsv892124 9 4519671 4564022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545222 S 6533 1 0 SLC1A1 MS16708 esv2051616 9 4527118 4527796 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905912 S 1 0 1 SLC1A1 NA18507 nsv528488 9 4532803 4532890 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705093 S 2026 0 1 SLC1A1 nsv819362 9 4577032 4577199 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418770 S 2 0 1 SLC1A1 AK1 nsv892125 9 4588379 4686919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503361 S 6533 1 0 C9orf68,CDC37L1,PPAPDC2 SP52039 esv29896 9 4589944 4590533 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20780 S 451 2 0 C9orf68 NA12044,NA18508 nsv511410 9 4590000 4590613 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626018 S 1 0 1 C9orf68 1 nsv820190 9 4590126 4590318 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419104 S 2 1 0 C9orf68 AK1 nsv892126 9 4631755 4689811 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542459 S 6533 1 0 C9orf68,CDC37L1,PPAPDC2 MS15782 esv29804 9 4644974 4646940 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18556 S 451 0 1 C9orf68 NA19129 nsv892127 9 4661022 4733626 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545223 S 6533 1 0 AK3,CDC37L1 MS16708 nsv819702 9 4669602 4670140 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418995 S 2 1 0 CDC37L1 AK1 nsv819262 9 4677842 4678905 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419165 S 2 0 1 CDC37L1 AK1 nsv892128 9 4702407 4732323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586879 S 6533 1 0 AK3 IS37986 dgv8016n71 9 4702407 4748022 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892130,nsv892129 M 6533 0 2 AK3 IS36936,IS37488 esv2606673 9 4703733 4704420 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300023 S 1 1 0 AK3 NA18507 nsv892131 9 4712462 4844433 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535704 S 6533 0 1 AK3,MIR101-2,RCL1 MS12406 esv22952 9 4715396 4718151 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11388 S 451 1 0 AK3 NA12828 nsv892132 9 4715823 4990811 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528828 S 6533 1 0 AK3,JAK2,MIR101-2,RCL1 SP81364 nsv466096 9 4720743 4748022 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541729 S 1557 0 1 AK3 1780854296_A nsv824823 9 4726854 4727483 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428075 S 31 0 1 AK3 NA18947 nsv466097 9 4733477 4748022 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541730 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00655 nsv518048 9 4740269 4777987 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695459 S 2026 0 1 "" nsv824824 9 4810352 4811282 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422740 S 31 0 1 RCL1 NA18552 nsv6459 9 4819645 4839963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8579 S 9 1 0 RCL1 NA12156 nsv892133 9 4820849 4849303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545224 S 6533 1 0 MIR101-2,RCL1 MS16708 nsv892134 9 4873257 4934805 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542460 S 6533 1 0 "" MS15782 nsv6460 9 4885242 4918196 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv790 S 9 1 0 "" NA19240 nsv517956 9 4885947 4893818 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695369 S 2026 1 0 "" nsv466098 9 4899719 4943916 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541731 S 1557 1 0 "" NINDS_34 nsv892135 9 4901930 4943916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562984,nssv1539949 M 6533 0 2 "" MS14630,MS25805 nsv892136 9 4911639 5426461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545225 S 6533 1 0 C9orf46,INSL4,INSL6,JAK2,RLN1,RLN2 MS16708 nsv466099 9 4928232 4947650 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541732 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00131 nsv527495 9 4998070 5407881 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703943 S 2026 1 0 C9orf46,INSL4,INSL6,JAK2,RLN1,RLN2 esv2517112 9 5015893 5017364 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381523 S 1 0 1 JAK2 NA18507 nsv824825 9 5087157 5087821 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432209 S 31 0 1 JAK2 AK20 dgv1208n67 9 5087293 5088412 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824827,nsv824826 M 31 0 2 JAK2 AK4,AK6 nsv466100 9 5088223 5257043 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541733 S 1557 1 0 INSL4,INSL6,JAK2 NINDS_223 nsv512086 9 5090876 5097042 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624641 S 1 0 1 JAK2 1 esv267944 9 5093277 5093604 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513958 S 157 1 0 Samples from several populations that are part of the HapMap project. JAK2 NA19143 nsv436602 9 5095830 5105811 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466502 S 2 0 1 Samples from several populations that are part of the HapMap project. JAK2 NA18505 esv25766 9 5097086 5105531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17646 S 451 0 1 JAK2 NA18505 nsv438090 9 5102519 5103577 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470060,nssv470059 M 269 0 2 Samples from several populations that are part of the HapMap project. JAK2 NA18505,NA19093 dgv8017n71 9 5104523 5299087 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892142,nsv892140,nsv892137 M 6533 0 3 INSL4,INSL6,JAK2,RLN2 IS33632,IS39512,SP51025 dgv8018n71 9 5106616 5208524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892139,nsv892138 M 6533 0 6 INSL6,JAK2 IS36320,IS38224,IS40345,IS40570,MS23983,MS25451 nsv892141 9 5106616 5469822 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586880 S 6533 1 0 C9orf46,CD274,INSL4,INSL6,JAK2,RLN1,RLN2 IS37986 nsv831495 9 5136781 5335751 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447543 S 95 0 1 INSL4,INSL6,RLN1,RLN2 nsv892143 9 5138278 5208524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549240 S 6533 0 1 INSL6 MS18149 nsv525777 9 5171467 5282257 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701950 S 2026 0 1 INSL4,INSL6 nsv892144 9 5172159 5267261 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503362 S 6533 1 0 INSL4,INSL6 SP52039 nsv892145 9 5194404 5374832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542461 S 6533 1 0 C9orf46,INSL4,RLN1,RLN2 MS15782 dgv24e24 9 5225860 5256342 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750686,esv2750645,esv2750612,esv2750646 M 51 0 4 "" 21634,21847,21879,22231 nsv516752 9 5257043 5335673 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691005,nssv666665,nssv693086,nssv662692,nssv661863,nssv654420,nssv687856,nssv670702,nssv693620,nssv657676,nssv669698,nssv678781,nssv663716,nssv693024,nssv683252,nssv663257,nssv661774,nssv674580,nssv689053,nssv705911,nssv694047,nssv660662,nssv692662,nssv663769,nssv667259,nssv678640,nssv653442,nssv659409,nssv667458,nssv653758,nssv686194,nssv668467,nssv673365 M 2026 9 24 RLN1,RLN2 essv18911 9 5278908 5326984 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. RLN1,RLN2 NA12717 dgv2277e1 9 5278908 5444512 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24412,esv537 M 271 0 0 C9orf46,CD274,RLN1,RLN2 NA12707 nsv466102 9 5282257 5325470 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541734 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RLN1,RLN2 HGDP00642 dgv8019n71 9 5290316 5330129 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv892147,nsv892146 M 6533 4 12 RLN1,RLN2 SP50098,SP50943,SP51175,SP51353,SP51398,SP52051,SP52566,SP53448,SP53791,SP54603,SP54753,SP54768,SP55469,SP56197,SP56707,SP56947 nsv824828 9 5294258 5327759 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430716 S 31 0 1 RLN1,RLN2 AK16 nsv466103 9 5296824 5325470 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541735 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RLN1 HGDP00537 nsv818675 9 5296824 5325470 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417297 S 112 0 1 RLN1 NA18608 esv2421494 9 5296824 5327707 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5051962,essv5061879,essv5139259,essv5068060,essv5066193,essv5004069,essv5142313,essv5052417,essv5097023,essv5100601,essv5095291,essv5076846,essv5133805,essv5146514,essv5118001,essv5139739,essv5110078,essv5103274,essv5101125,essv5074544,essv5130355,essv5004326,essv5060893,essv5155746,essv5084434,essv5064884,essv5090790,essv5111081,essv5091088,essv5093555 M 1184 14 16 RLN1 NA12707,NA12763,NA12832,NA12842,NA18107,NA18134,NA18136,NA18143,NA18157,NA18608,NA18642,NA18685,NA18749,NA19178,NA19379,NA19381,NA19382,NA19437,NA19661,NA19760,NA20276,NA20277,NA20348,NA20356,NA20854,NA20873,NA21382,NA21383,NA21448,NA21719 nsv466104 9 5296824 5335673 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541736 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RLN1 HGDP00351 nsv466106 9 5296824 5345536 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541738 S 1557 0 1 RLN1 1780846005_A dgv8020n71 9 5301171 5343868 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892148,nsv892149 M 6533 0 4 RLN1 SP52094,SP52109,SP54383,SP56013 nsv442130 9 5301567 5327707 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RLN1 nsv892150 9 5314922 5362411 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551557 S 6533 0 1 C9orf46,RLN1 MS18935 nsv466108 9 5335673 5504372 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541739 S 1557 1 0 C9orf46,CD274,PDCD1LG2 1798860570_A essv12011 9 5344558 5398335 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C9orf46 NA19141 nsv8408 9 5369173 5374852 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20453 S 31 1 0 Samples from several populations that are part of the HapMap project. C9orf46 NA18972 nsv466109 9 5371870 5400624 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541740 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf46 HGDP00576 esv25929 9 5375326 5393173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15575 S 451 0 2 C9orf46 NA18909,NA18916 nsv442131 9 5375779 5388011 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C9orf46 esv2421735 9 5375783 5377369 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5152022,essv5092225,essv5002631,essv5050348,essv5127944,essv5034863,essv5139633,essv5038463,essv5015770,essv5038805,essv5090226,essv5045244,essv5073717,essv5074460,essv5134141,essv5125638,essv5044468,essv5151118,essv5110355,essv5073881,essv5119666,essv5033322,essv5013089,essv5034859,essv5156677 M 1184 0 25 C9orf46 NA18909,NA18911,NA18916,NA18917,NA19028,NA19095,NA19128,NA19141,NA19213,NA19321,NA19377,NA19394,NA19439,NA19448,NA19681,NA19788,NA20295,NA20508,NA20524,NA21352,NA21382,NA21383,NA21414,NA21513,NA21776 nsv466110 9 5375783 5382243 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541741 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf46 HGDP00723 esv34378 9 5375783 5382330 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980898,essv6987873 M 771 0 1 C9orf46 NA19141 essv11336 9 5375783 5398358 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. C9orf46 NA19128 nsv818676 9 5376384 5382243 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415872 S 112 0 1 C9orf46 NA19141 nsv515508 9 5376384 5397628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681544,nssv664018,nssv680367,nssv683607,nssv679459,nssv651798,nssv690810,nssv677585,nssv662914,nssv656794,nssv675956,nssv657288,nssv665756,nssv701938,nssv676066,nssv687190,nssv689279,nssv666959,nssv680163,nssv684380,nssv675045,nssv677439,nssv683909,nssv664717,nssv689078,nssv664244,nssv675555,nssv693974,nssv653655,nssv678116,nssv683871,nssv651762,nssv671484,nssv685702,nssv652054,nssv656602,nssv667990,nssv679034,nssv693419,nssv685393,nssv673613,nssv655957,nssv675806 M 2026 0 43 C9orf46 esv2075617 9 5423248 5423769 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927229 S 1 0 1 C9orf46 NA18507 nsv519771 9 5450910 5454065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681109,nssv658438,nssv659183,nssv688016,nssv691639,nssv675996,nssv676309,nssv661704 M 2026 0 8 CD274 nsv509292 9 5459291 5536768 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619546 S 4 1 0 CD274,PDCD1LG2 NA10860 nsv6461 9 5460916 5490311 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10651,nssv6264 M 9 2 0 "" NA12156,NA18956 esv268735 9 5481382 5481467 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519256,essv2518696,essv2518582 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12045,NA12287 nsv892151 9 5592528 5831438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586881 S 6533 1 0 ERMP1,KIAA1432 IS37986 nsv824829 9 5601839 5602779 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432210 S 31 0 1 "" AK20 nsv892152 9 5621097 5709116 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572745 S 6533 1 0 KIAA1432 IS33166 esv995651 9 5628936 5634891 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564813 S 3 0 1 KIAA1432 HuRef esv2543160 9 5630887 5633316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271633 S 1 0 1 KIAA1432 NA18507 esv2158152 9 5631433 5632995 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798903 S 1 0 1 KIAA1432 NA18507 esv24276 9 5631648 5632801 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13901 S 451 0 2 KIAA1432 NA18523,NA18861 nsv824830 9 5633993 5646517 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432211 S 31 1 0 KIAA1432 AK20 nsv892153 9 5682233 5732450 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542462 S 6533 1 0 KIAA1432 MS15782 nsv892154 9 5682233 5738232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555503 S 6533 0 1 KIAA1432 MS21397 nsv6462 9 5689178 5733953 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8580 S 9 0 1 KIAA1432 NA12156 esv23270 9 5740200 5741316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13942 S 451 0 1 KIAA1432 NA19129 nsv892155 9 5815768 6034937 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542463 S 6533 1 0 ERMP1,KIAA2026,MIR4665,MLANA,RANBP6 MS15782 nsv6463 9 5826620 5860203 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8581 S 9 1 0 "" NA12156 nsv523739 9 5860703 5862531 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699555 S 2026 0 1 "" nsv6464 9 5873378 5904698 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3703 S 9 1 0 MLANA NA12878 nsv892156 9 5882375 6001757 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545226 S 6533 1 0 KIAA2026,MIR4665,MLANA,RANBP6 MS16708 dgv1209n67 9 6000950 6004414 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824837,nsv824833,nsv824835,nsv824832,nsv824838,nsv824836,nsv824834 M 31 8 0 RANBP6 AK18,AK4,NA18547,NA18552,NA18566,NA18949,NA18973,NA18999 esv27855 9 6001447 6004308 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18008,esv20107 M 451 12 0 RANBP6 NA06985,NA11995,NA12414,NA12489,NA15510,NA18508,NA18916,NA19108,NA19147,NA19190,NA19225,NA19240 nsv6466 9 6074555 6108758 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8582 S 9 1 0 "" NA12156 nsv892157 9 6083790 6312415 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542464 S 6533 1 0 IL33 MS15782 nsv831496 9 6091763 6275088 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447544 S 95 1 0 IL33 nsv521598 9 6132157 6281125 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698215 S 2026 0 1 IL33 nsv892158 9 6139006 6256440 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545227 S 6533 1 0 IL33 MS16708 nsv892159 9 6180076 6221239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564731 S 6533 0 1 IL33 IS30292 esv2625562 9 6202859 6204330 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177987 S 1 0 1 "" NA18507 esv3959 9 6266095 6266533 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26400 S 1 0 1 Single Asian sample YH "" YH esv6984 9 6266162 6266419 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29425 S 1 0 1 "" SJK nsv512985 9 6278714 6279004 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625640 S 1 1 0 "" 1 nsv6467 9 6342439 6346712 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv791 S 9 1 0 "" NA19240 nsv6468 9 6348344 6392978 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5147,nssv10652 M 9 2 0 "" NA18956,NA19129 dgv8021n71 9 6354449 6513056 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892161,nsv892160 M 6533 3 0 UHRF2 IS37986,MS15782,MS16708 nsv509293 9 6356939 6381154 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623554,nssv619547,nssv618073,nssv620918 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv831497 9 6367501 6602402 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447545 S 95 1 0 GLDC,UHRF2 dgv475n21 9 6392856 6399874 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523692,nsv523675 M 2026 0 2 "" nsv824839 9 6403362 6404013 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424356 S 31 1 0 UHRF2 NA18582 esv2535857 9 6469763 6471183 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311806 S 1 0 1 UHRF2 NA18507 nsv892162 9 6470005 6778085 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578133 S 6533 1 0 GLDC,KDM4C,UHRF2 IS34686 esv6811 9 6483711 6483788 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29252 S 1 1 0 UHRF2 SJK nsv831498 9 6486021 6679728 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447546 S 95 0 1 GLDC,UHRF2 nsv526323 9 6498149 6500453 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702612 S 2026 0 1 "" nsv892163 9 6513056 6622061 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545229 S 6533 1 0 GLDC MS16708 esv2752308 9 6513060 6889149 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983017,essv6986323,essv6986324,essv6983016,essv6983018 M 771 1 0 GLDC,KDM4C BEC_533 nsv892164 9 6545079 6654282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1547150 S 6533 0 1 GLDC MS17216 nsv466111 9 6557841 7007391 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541742 S 1557 1 0 GLDC,KDM4C 1782681216_A dgv2278e1 9 6566991 6835561 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv854,essv18172 M 271 0 0 GLDC,KDM4C NA12057 nsv892165 9 6592821 6691530 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542466 S 6533 1 0 GLDC MS15782 nsv892166 9 6592821 7212495 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535976 S 6533 0 1 GLDC,KDM4C MS12572 nsv519777 9 6610059 6740556 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694346 S 2026 1 0 GLDC,KDM4C nsv416560 9 6619946 6619946 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435138 M 24 GLDC nsv521556 9 6631895 6666953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698172 S 2026 0 1 GLDC dgv8022n71 9 6631895 6693997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892167,nsv892171,nsv892168 M 6533 0 41 GLDC IS37771,IS38439,MS11159,MS11332,MS11657,MS11741,MS11791,MS12577,MS12630,MS12634,MS13480,MS13487,MS13553,MS14526,MS14940,MS16078,MS17093,MS17450,MS17522,MS17609,MS18333,MS18552,MS18598,MS18694,MS18911,MS18999,MS19119,MS19324,MS19677,MS19683,MS21528,MS23451,MS23889,MS25294,SP50646,SP51302,SP56418,SP56457,SP56653,SP56983,SP57675 dgv8023n71 9 6631895 6713861 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892169,nsv892170 M 6533 0 5 GLDC,KDM4C IS38575,IS41128,IS41263,MS20710,MS25139 nsv524645 9 6640885 6654901 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700611 S 2026 0 1 "" nsv43 9 6641440 6662988 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv43 S 1 0 1 "" NA15510 nsv6469 9 6641440 6662988 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11201 S 9 0 1 "" NA15510 nsv892172 9 6646630 6685397 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522198 S 6533 1 0 "" SP52816 nsv508534 9 6650585 6660327 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620019 S 4 0 1 "" NA15510 nsv435882 9 6652640 6662014 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466503 S 2 0 1 "" NA15510 nsv499120 9 6653077 6661186 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586106 S 9 0 1 "" esv26837 9 6653209 6660913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19253 S 451 0 1 "" NA15510 nsv433498 9 6654282 6659474 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463379 S 9 0 1 "" NA15510 nsv892173 9 6659474 6750919 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586883 S 6533 1 0 KDM4C IS37986 nsv466112 9 6659474 6776734 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541743 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KDM4C HGDP00998 esv2752309 9 6660448 6898200 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988800,essv6984404,essv6984405,essv6987590 M 771 1 0 KDM4C BEC_703 nsv442132 9 6662095 6663766 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv517628 9 6662097 6666953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665680,nssv664770,nssv680384,nssv667168,nssv652590,nssv659647,nssv652794,nssv689321,nssv698423,nssv665213,nssv676193 M 2026 0 11 "" nsv892174 9 6662097 6691530 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533625 S 6533 0 1 "" MS11243 nsv466113 9 6662097 6721786 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541744 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KDM4C HGDP00711 dgv8024n71 9 6662097 6750919 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892177,nsv892180,nsv892178,nsv892175,nsv892176 M 6533 0 41 KDM4C IS38670,MS10545,MS10674,MS10731,MS10745,MS12642,MS12751,MS12996,MS13469,MS13549,MS13783,MS14284,MS16656,MS16801,MS16902,MS16921,MS16940,MS17319,MS17689,MS18256,MS19321,MS19437,MS20009,MS20702,MS20747,MS21189,MS21201,MS21517,MS21891,MS22273,MS22321,MS23709,MS24083,MS24121,MS25014,MS25042,MS25498,MS25579,MS25768,MS26061,MS26137 esv29206 9 6662257 6665227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14594 S 451 0 1 "" NA18523 nsv515147 9 6662366 6663943 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628006 S 1414 0 1 "" nsv818677 9 6663465 6663957 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416375,nssv1416376 M 112 0 2 "" NA18856,NA18857 nsv471273 9 6663465 6729489 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545790 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KDM4C HGDP00711 nsv892179 9 6666953 6723456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539889 S 6533 0 1 KDM4C MS14562 nsv892181 9 6670477 7060962 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522106 S 6533 1 0 KDM4C SP52723 nsv6470 9 6678118 6707908 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8583 S 9 0 1 "" NA12156 esv32977 9 6684812 6733422 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94022 S 51 0 1 KDM4C 21802 nsv8409 9 6685281 6701394 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17222,nssv17374 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA10839 nsv521256 9 6685397 6687128 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692044,nssv688759 M 2026 0 2 "" nsv466114 9 6687128 6714015 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541745 S 1557 0 1 KDM4C 1780854338_A esv1010499 9 6690176 6700717 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586190 S 3 0 1 "" HuRef esv1002466 9 6690433 6700651 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565369 S 3 0 1 "" HuRef esv29729 9 6690598 6700717 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12936 S 451 0 5 "" NA07037,NA07045,NA12287,NA12489,NA12749 essv18872 9 6691130 6695914 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07029 esv2421694 9 6691130 6698357 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5126014,essv5125325,essv5101207,essv5102055,essv5031513,essv5126761,essv5026990,essv5139149,essv5033919,essv5027119,essv5012564,essv5146573,essv5103546,essv5148659,essv5087195,essv5095032,essv5160564,essv5098542,essv5011020,essv5003799,essv5122859,essv5074894,essv5087799,essv5053002,essv5024089,essv5021815,essv5120649,essv5155662,essv5136330,essv5022511,essv5035548,essv5126824,essv5011625,essv5006904,essv5048997,essv5138279,essv5006422,essv5088432,essv5138243,essv5108264,essv5128966,essv5123876,essv5148735,essv5091987,essv5053819,essv5150068,essv5119881,essv5029819,essv5137634,essv5054068,essv5016637,essv5071711,essv5021662,essv5023249,essv5049260,essv5112184,essv5058857,essv5092656,essv5155239,essv5014740,essv5125475,essv5078074,essv5112777,essv5151572,essv5030972,essv5004048,essv5054946,essv5038735,essv5140177,essv5126865,essv5083934,essv5041262,essv5056932,essv5057963,essv5080692,essv5039066,essv5103942,essv5099995,essv5149311,essv5116020,essv5046015,essv5137175,essv5024681,essv5040474,essv5030397,essv5131931,essv5059704,essv5105246,essv5098554,essv5160336,essv5052939,essv5037717,essv5073751,essv5106703,essv5046431,essv5107929,essv5077220,essv5152555,essv5018925,essv5144606,essv5008394,essv5043178,essv5152779,essv5076851,essv5094262,essv5129966,essv5028109,essv5007274,essv5154596,essv5063068,essv5004754,essv5017683,essv5097046,essv5138239 M 1184 0 114 "" NA06986,NA06989,NA06991,NA06993,NA06997,NA07000,NA07029,NA07037,NA07045,NA07055,NA07348,NA07357,NA10835,NA10837,NA10839,NA10855,NA11832,NA11891,NA11917,NA11992,NA12005,NA12057,NA12248,NA12272,NA12282,NA12283,NA12287,NA12335,NA12340,NA12375,NA12376,NA12386,NA12399,NA12413,NA12489,NA12739,NA12749,NA12753,NA12762,NA12763,NA12766,NA12767,NA12775,NA12777,NA12830,NA12891,NA12892,NA17977,NA19383,NA19625,NA19651,NA19658,NA19659,NA19660,NA19663,NA19675,NA19677,NA19679,NA19680,NA19685,NA19700,NA19702,NA19749,NA19774,NA19775,NA19779,NA19789,NA19790,NA20276,NA20289,NA20290,NA20292,NA20341,NA20348,NA20504,NA20527,NA20540,NA20541,NA20543,NA20586,NA20589,NA20756,NA20757,NA20760,NA20768,NA20769,NA20770,NA20772,NA20778,NA20787,NA20796,NA20799,NA20810,NA20811,NA20813,NA20849,NA20856,NA20859,NA20884,NA20901,NA20902,NA20904,NA21086,NA21088,NA21091,NA21099,NA21109,NA21112,NA21301,NA21302,NA21344,NA21366,NA21382,NA21620 esv997624 9 6692631 6698515 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587099 S 3 0 1 "" HuRef esv1626390 9 6698614 6698614 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4103804 S 2 1 0 "" HuRef nsv831499 9 6713287 6920933 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447547 S 95 0 1 KDM4C esv1268323 9 6717607 6717607 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3642230 S 2 1 0 KDM4C HuRef esv991061 9 6717607 6720271 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564585 S 3 1 0 KDM4C HuRef esv2575633 9 6718610 6720860 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166426 S 1 0 1 KDM4C NA18507 nsv512087 9 6718685 6721693 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624642 S 1 0 1 KDM4C 1 esv8547 9 6719093 6720102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30988 S 1 0 1 KDM4C SJK esv27835 9 6719261 6719815 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19623 S 451 0 2 KDM4C NA15510,NA19190 nsv820480 9 6719261 6719815 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420797 S 1 0 1 KDM4C NA10851 nsv892182 9 6729489 6801507 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542467 S 6533 1 0 KDM4C MS15782 essv2425 9 6733440 6835561 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. KDM4C NA18951 nsv466115 9 6740556 6849189 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541746 S 1557 1 0 KDM4C 1780854098_A nsv824840 9 6752285 6795457 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438284 S 31 0 1 KDM4C NA18951 nsv818679 9 6753072 6778085 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417403 S 112 0 1 KDM4C NA18951 esv35116 9 6759429 6788091 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980093,essv6980092,essv6988310 M 771 0 1 KDM4C NA18951 esv268119 9 6770291 6770639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515300,essv2517913,essv2514371,essv2517627 M 157 4 0 Samples from several populations that are part of the HapMap project. KDM4C NA12249,NA12872,NA12874,NA12878 esv274166 9 6770291 6770639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581493 S 7 1 0 Samples from several populations that are part of the HapMap project. KDM4C NA12878 nsv824841 9 6783104 6785060 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438286 S 31 0 1 KDM4C NA18951 nsv892183 9 6801507 6845838 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545230 S 6533 1 0 KDM4C MS16708 nsv524069 9 6827912 6870263 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699937 S 2026 1 0 KDM4C nsv831500 9 6837952 6982535 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447548 S 95 0 1 KDM4C nsv831501 9 6858099 7048526 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447549 S 95 1 0 KDM4C esv2426665 9 6878178 6879824 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353054 S 1 0 1 KDM4C NA18507 esv2205276 9 6878579 6879270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681865 S 1 0 1 KDM4C NA18507 esv4186 9 6878698 6879149 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26627 S 1 0 1 Single Asian sample YH KDM4C YH esv1403882 9 6878773 6879087 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617672 S 2 0 1 KDM4C HuRef esv2537839 9 6878779 6879092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183708 S 1 0 1 KDM4C NA18507 nsv416139 9 6878788 6879101 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434717 M 24 KDM4C esv9139 9 6878802 6879091 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31580 S 1 0 1 KDM4C SJK nsv892184 9 6896384 6975602 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545231 S 6533 1 0 KDM4C MS16708 esv268487 9 6899527 6899612 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515000 S 157 1 0 Samples from several populations that are part of the HapMap project. KDM4C NA12812 dgv8025n71 9 6919053 7065305 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892185,nsv892186 M 6533 2 0 KDM4C IS38054,MS15782 nsv892187 9 6964101 7025727 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586884 S 6533 1 0 KDM4C IS37986 esv259805 9 6968311 6968768 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394921,essv2400363,essv2397203,essv2400619,essv2397863,essv2400426,essv2395533,essv2400137,essv2396850,essv2395442,essv2398178 M 144 0 0 Samples from several populations that are part of the HapMap project. KDM4C NA18545,NA18555,NA18572,NA18576,NA18577,NA18592,NA18593,NA18608,NA18638,NA18948,NA18949 esv2502836 9 6988483 6990005 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300536 S 1 0 1 KDM4C NA18507 nsv522977 9 6988948 6994340 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698647 S 2026 0 1 KDM4C esv2365258 9 6989180 6989884 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499036 S 1 0 1 KDM4C NA18507 esv4579 9 6989183 6989761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27020 S 1 0 1 Single Asian sample YH KDM4C YH esv1002679 9 6989382 6989688 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579093 S 3 0 1 KDM4C HuRef esv1599076 9 6989384 6989691 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742060 S 2 0 1 KDM4C HuRef nsv892188 9 6989846 7016860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545232 S 6533 1 0 KDM4C MS16708 nsv466117 9 7020268 7074558 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541748 S 1557 1 0 KDM4C 1780862573_A esv26908 9 7050286 7051750 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17814 S 451 0 1 KDM4C NA06985 nsv523788 9 7054934 7065305 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699615 S 2026 0 1 KDM4C nsv892189 9 7081968 7140997 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542469 S 6533 1 0 KDM4C MS15782 nsv892190 9 7084860 7176074 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586885 S 6533 1 0 KDM4C IS37986 nsv524896 9 7131418 8328431 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700903 S 2026 1 0 C9orf123,KDM4C,PTPRD nsv892191 9 7140997 7163752 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587446 S 6533 1 0 KDM4C IS38054 nsv892192 9 7143009 7247340 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545233 S 6533 1 0 KDM4C MS16708 nsv519762 9 7153530 7162498 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697036 S 2026 0 1 KDM4C nsv528873 9 7153530 7167936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705553 S 2026 0 1 KDM4C dgv2279e1 9 7165387 7472982 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6708,esv540 M 271 0 0 KDM4C NA18608 esv2073574 9 7184663 7185015 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4524836 S 1 0 1 "" NA18507 nsv519922 9 7193306 7202446 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697128 S 2026 0 1 "" nsv892193 9 7198342 7238916 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1522245 S 6533 1 0 "" SP52859 dgv476n21 9 7217918 7223161 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526674,nsv520185 M 2026 0 3 "" nsv892194 9 7231270 7341360 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532994 S 6533 0 1 "" MS10968 nsv824843 9 7237535 7247802 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432212 S 31 1 0 "" AK20 nsv892195 9 7241005 7275728 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591559 S 6533 1 0 "" IS38987 dgv256e55 9 7250390 7380841 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34220,esv2752310 M 771 0 2 "" BEC_667,NA18608 essv6937 9 7260158 7363868 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18608 nsv510179 9 7263743 7269743 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618307,nssv622172,nssv624076 M 4 0 3 "" CHM,NA10860,NA18994 nsv818680 9 7278704 7361646 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417298 S 112 0 1 "" NA18608 esv34566 9 7281742 7771370 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980359,essv6980360,essv6980361,essv6980362,essv6987771,essv6987772 M 771 0 1 "" NA07345 nsv818681 9 7282836 7771365 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418011 S 112 0 1 "" NA07345 nsv8410 9 7324684 7328121 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21810 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 dgv8026n71 9 7325949 7356297 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892196,nsv892197 M 6533 0 3 "" IS35422,IS41317,IS41581 nsv466118 9 7326443 7353648 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541749 S 1557 0 1 "" 1780854491_A esv2226283 9 7356995 7357384 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902934 S 1 0 1 "" NA18507 esv2439400 9 7361319 7362749 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207133 S 1 0 1 "" NA18507 esv2148641 9 7361631 7362311 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762474 S 1 0 1 "" NA18507 esv26148 9 7372366 7374742 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17740 S 451 0 1 "" NA18502 esv23125 9 7405929 7407779 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19487 S 451 8 0 "" NA06985,NA12156,NA12287,NA12414,NA12489,NA15510,NA18916,NA19190 esv987532 9 7406147 7407850 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586356 S 3 0 1 "" HuRef nsv8411 9 7410218 7440456 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19542,nssv17898 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA18502,NA18564 nsv831502 9 7418505 7589941 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447550 S 95 1 0 "" esv29162 9 7419023 7439898 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10941 S 451 1 0 "" NA18502 nsv892198 9 7428953 7456024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586886 S 6533 1 0 "" IS37986 nsv892199 9 7438688 7467303 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545234 S 6533 1 0 "" MS16708 nsv522302 9 7468453 7479047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695083 S 2026 0 1 "" nsv526451 9 7475343 7479047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702754 S 2026 0 1 "" nsv892200 9 7483198 7508656 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581625 S 6533 0 1 "" IS35671 dgv2280e1 9 7514075 7551271 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8520,esv930,essv16387 M 271 0 0 "" NA18523,NA19172 nsv892201 9 7514075 7732476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542470 S 6533 1 0 "" MS15782 essv8041 9 7524111 7529567 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19103 essv9500 9 7524111 7537216 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18521 essv12077 9 7525580 7550779 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19099 nsv892202 9 7526158 7547471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552415 S 6533 0 1 "" MS19414 nsv8412 9 7532679 7534390 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17886 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA10863 nsv892203 9 7535181 7582407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586887 S 6533 1 0 "" IS37986 dgv8027n71 9 7572234 7616045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892204,nsv892205 M 6533 0 6 "" SP52255,SP52633,SP52761,SP53083,SP54606,SP57817 nsv6471 9 7606358 7638836 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10653 S 9 1 0 "" NA18956 nsv892206 9 7631251 7672601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586888 S 6533 1 0 "" IS37986 dgv8028n71 9 7648953 7732476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892207,nsv892208 M 6533 0 2 "" MS26151,SP81059 dgv8029n71 9 7658843 7710636 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892210,nsv892209,nsv892211 M 6533 0 4 "" MS10352,MS17852,SP51021,SP56936 nsv6472 9 7720851 7733520 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1780 S 9 1 0 "" NA18555 nsv466120 9 7724250 7760942 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541750 S 1557 0 1 "" 1780862081_A nsv519687 9 7724250 7760942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657572,nssv688145 M 2026 0 2 "" nsv509294 9 7730110 7735877 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618074,nssv620919 M 4 2 0 "" CHM,NA15510 esv990025 9 7731272 7731696 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565796 S 3 1 0 "" HuRef esv270685 9 7731377 7737452 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557976,essv2565618,essv2576028,essv2526280,essv2522742,essv2568202,essv2523158,essv2548263,essv2550481,essv2535431,essv2554272,essv2547606,essv2558555,essv2577928,essv2559642,essv2554954,essv2544650,essv2523556,essv2540377,essv2524718,essv2564859,essv2534614,essv2519679,essv2521918,essv2566013,essv2531062,essv2532695,essv2567782,essv2529050,essv2567339,essv2570006,essv2563601,essv2553312,essv2572541,essv2542173,essv2527444,essv2543059,essv2576958,essv2571998,essv2525647,essv2530426,essv2568692,essv2536338,essv2533169,essv2554572,essv2563299 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07051,NA07346,NA10847,NA10851,NA11829,NA11830,NA11918,NA11931,NA11995,NA12004,NA12045,NA12234,NA12249,NA12287,NA12717,NA12750,NA12761,NA12776,NA12872,NA18526,NA18537,NA18552,NA18555,NA18558,NA18561,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18603,NA18605,NA18609,NA18856,NA18952,NA18965,NA18970,NA18973,NA18980,NA19141,NA19147 nsv892212 9 7732476 7777532 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538328 S 6533 0 1 "" MS13693 nsv892213 9 7760942 7846992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586889 S 6533 1 0 C9orf123 IS37986 nsv892214 9 7764180 7812486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545235 S 6533 1 0 C9orf123 MS16708 nsv517976 9 7779577 7780940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695388 S 2026 0 1 "" nsv892215 9 7789787 7879991 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542471 S 6533 1 0 C9orf123 MS15782 nsv8414 9 7817373 8501613 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16642 S 31 0 1 Samples from several populations that are part of the HapMap project. PTPRD NA18942 esv270914 9 7842501 7842841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516721,essv2517409,essv2517097,essv2518795,essv2518583,essv2514924,essv2515761,essv2518074,essv2516063,essv2514217,essv2517561,essv2517245,essv2518282,essv2519347,essv2513752 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11881,NA11918,NA11931,NA12045,NA12287,NA12812,NA12815,NA12872,NA12873,NA12874,NA12878,NA18970,NA19240 esv272450 9 7842501 7842841 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581466 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv466121 9 7846992 7879991 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541751 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01032 nsv892216 9 7900934 7975651 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545236 S 6533 1 0 "" MS16708 nsv521550 9 7903952 7909153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698165 S 2026 0 1 "" nsv6473 9 7906627 7938409 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10654 S 9 1 0 "" NA18956 nsv892217 9 7909153 7968514 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549252 S 6533 0 1 "" MS18153 nsv471274 9 7915381 7943759 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545791 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00288 nsv892218 9 7919372 7954559 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526301 S 6533 0 1 "" SP57160 nsv516864 9 7931682 7935146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654534,nssv654617 M 2026 0 2 "" esv993533 9 7938578 7939693 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563491 S 3 1 0 "" HuRef esv1780840 9 7939545 7939545 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888326 S 2 1 0 "" HuRef nsv519428 9 7987936 8029781 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656956,nssv673151,nssv656685,nssv677417,nssv684516,nssv679180,nssv681110,nssv656155,nssv688980,nssv695847,nssv672840 M 2026 0 11 "" nsv892219 9 7987936 8077483 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523351 S 6533 0 1 "" SP53988 nsv466122 9 7999428 8002166 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541752 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00693 nsv818682 9 7999428 8004674 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417191 S 112 0 1 "" NA18558 nsv892220 9 8021935 8092278 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541902 S 6533 0 1 "" MS15539 nsv436619 9 8039289 8044206 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466504 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1982535 9 8059334 8059763 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565357 S 1 0 1 "" NA18507 nsv892221 9 8065139 8113943 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542472 S 6533 1 0 "" MS15782 nsv415784 9 8077348 8085433 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434362 M 24 "" nsv523627 9 8096282 8151572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699425 S 2026 1 0 "" esv2585232 9 8101329 8102768 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5219420 S 1 0 1 "" NA18507 nsv892222 9 8162046 8243019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542473 S 6533 1 0 "" MS15782 esv1008314 9 8209578 8209578 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578918 S 3 1 0 "" HuRef esv1383088 9 8209579 8209579 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047139 S 2 1 0 "" HuRef nsv416210 9 8209580 8209580 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434788 M 24 "" esv2421180 9 8215561 8215969 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4750100 S 1 0 1 "" NA18507 nsv466123 9 8237628 8260248 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541753 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01310 nsv892223 9 8248921 8308948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585355 S 6533 0 1 PTPRD IS37428 nsv892224 9 8253737 8328431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542474 S 6533 1 0 PTPRD MS15782 nsv523768 9 8329606 8332540 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699589 S 2026 0 1 PTPRD esv26678 9 8334499 8334982 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18765 S 451 1 0 PTPRD NA19129 esv996283 9 8334972 8334972 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583358 S 3 1 0 PTPRD HuRef esv1314470 9 8334973 8334973 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649554 S 2 1 0 PTPRD HuRef nsv892225 9 8335072 8369313 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545237 S 6533 1 0 PTPRD MS16708 nsv526971 9 8372720 8378220 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703343 S 2026 0 1 PTPRD nsv892226 9 8425525 8512326 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542475 S 6533 1 0 PTPRD MS15782 nsv892227 9 8435066 8451714 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586890 S 6533 1 0 PTPRD IS37986 nsv527205 9 8442899 8442953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703605 S 2026 0 1 PTPRD nsv892228 9 8472778 8693733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586891 S 6533 1 0 PTPRD IS37986 esv1005977 9 8474616 8474624 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579660 S 3 1 0 PTPRD HuRef esv1627386 9 8474625 8474625 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012280 S 2 1 0 PTPRD HuRef nsv892229 9 8475201 8510366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591735 S 6533 0 1 PTPRD IS39011 nsv831504 9 8486277 8655773 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447552 S 95 0 1 PTPRD nsv528895 9 8506003 8506194 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705579 S 2026 0 1 PTPRD nsv528345 9 8528919 8544938 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704928 S 2026 0 1 PTPRD esv7107 9 8539320 8539385 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29548 S 1 1 0 PTPRD SJK nsv892230 9 8559186 8633259 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542476 S 6533 1 0 PTPRD MS15782 nsv892231 9 8559186 8649757 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558482 S 6533 0 1 PTPRD MS23290 nsv442133 9 8605659 8610138 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PTPRD dgv1210n67 9 8630797 8631689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824845,nsv824844 M 31 0 6 PTPRD AK14,AK8,NA18526,NA18542,NA18592,NA18973 esv29008 9 8630898 8632335 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19749,esv13318 M 451 0 11 PTPRD NA12878,NA18505,NA18508,NA18523,NA18858,NA18861,NA18907,NA18916,NA19108,NA19114,NA19147 nsv892233 9 8635448 8692964 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545238 S 6533 1 0 PTPRD MS16708 dgv8030n71 9 8635448 8693733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892234,nsv892232 M 6533 0 2 PTPRD MS13399,MS15817 esv273131 9 8635733 8635983 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580915 S 7 1 0 Samples from several populations that are part of the HapMap project. PTPRD NA19238 esv268174 9 8635735 8635991 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495308,essv2494702,essv2500474,essv2497828,essv2499956,essv2494445,essv2507678,essv2512712,essv2508120,essv2509975,essv2501610,essv2511072,essv2497968,essv2503502,essv2512359,essv2497394,essv2495980,essv2502692,essv2501322,essv2506982,essv2499136,essv2496955,essv2493887,essv2512138,essv2502235,essv2495831,essv2499573,essv2513047 M 157 28 0 Samples from several populations that are part of the HapMap project. PTPRD NA07000,NA07357,NA10847,NA11992,NA18519,NA18537,NA18555,NA18558,NA18572,NA18576,NA18577,NA18579,NA18593,NA18608,NA18944,NA18945,NA18947,NA18949,NA18959,NA18961,NA18965,NA19093,NA19102,NA19114,NA19190,NA19210,NA19238,NA19257 nsv824846 9 8686594 8690222 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424357 S 31 0 1 PTPRD NA18582 dgv8031n71 9 8690396 8860553 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892235,nsv892236 M 6533 2 0 PTPRD MS12475,MS15782 nsv6474 9 8696602 8741414 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8584 S 9 0 1 PTPRD NA12156 dgv8032n71 9 8742743 8784314 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892238,nsv892237 M 6533 0 2 PTPRD SP50530,SP55345 nsv892239 9 8763599 8795462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545239 S 6533 1 0 PTPRD MS16708 esv2311235 9 8771913 8772333 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980963 S 1 0 1 PTPRD NA18507 esv1043147 9 8772125 8772177 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3989674 S 2 0 1 PTPRD HuRef nsv466124 9 8777733 8790078 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541754 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP01298 nsv892240 9 8786449 8824108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586892 S 6533 1 0 PTPRD IS37986 nsv524721 9 8787533 8788347 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700706 S 2026 0 1 PTPRD nsv892241 9 8795462 8812267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500116 S 6533 0 1 PTPRD SP50038 nsv528774 9 8837233 8837353 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705438 S 2026 0 1 PTPRD nsv525293 9 8837233 8840071 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701399 S 2026 0 1 PTPRD esv3052 9 8838688 8839059 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25493 S 1 0 1 Single Asian sample YH PTPRD YH nsv522121 9 8855925 8860553 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694893 S 2026 0 1 PTPRD nsv819452 9 8864309 8867953 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419565 S 2 1 0 PTPRD AK1 nsv892242 9 8869472 8931668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545240 S 6533 1 0 PTPRD MS16708 esv26819 9 8873454 8874212 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18159 S 451 0 1 PTPRD NA12004 nsv892243 9 8875476 8888464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512217 S 6533 0 1 PTPRD SP55346 nsv892244 9 8879419 8888464 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503258 S 6533 0 1 PTPRD SP52019 esv2185581 9 8893563 8894091 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4716207 S 1 0 1 PTPRD NA18507 nsv892245 9 8906449 8927478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586893 S 6533 1 0 PTPRD IS37986 nsv892246 9 8916071 8983027 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542478 S 6533 1 0 PTPRD MS15782 esv1535970 9 8919897 8919897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083117 S 2 1 0 PTPRD HuRef nsv415985 9 8924464 8924533 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434563 M 24 PTPRD nsv471275 9 8955753 8983617 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545792,nssv545793 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00876,HGDP01051 esv273815 9 8960868 8961307 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580660 S 7 1 0 Samples from several populations that are part of the HapMap project. PTPRD NA19238 nsv892247 9 8963980 8991207 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540028,nssv1542360 M 6533 0 2 PTPRD MS14658,MS15767 nsv466128 9 8965175 8983618 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541756 S 1557 0 1 PTPRD NINDS_142 nsv509295 9 8977794 9001331 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623555,nssv619548,nssv620920 M 4 3 0 PTPRD NA10860,NA15510,NA18994 nsv6475 9 8985678 9004305 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3705,nssv5148 M 9 2 0 PTPRD NA12878,NA19129 esv1163845 9 8998030 8998030 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4085920 S 2 1 0 PTPRD HuRef esv999794 9 8998030 8998953 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563946 S 3 1 0 PTPRD HuRef nsv519716 9 9010223 9012205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697009 S 2026 0 1 PTPRD nsv892248 9 9014254 9166176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542479 S 6533 1 0 PTPRD MS15782 nsv892249 9 9016854 9367679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545241 S 6533 1 0 PTPRD MS16708 nsv892250 9 9022693 9115205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586894 S 6533 1 0 PTPRD IS37986 nsv831505 9 9062216 9267320 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447553 S 95 1 0 PTPRD nsv892251 9 9064830 9109229 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557985 S 6533 0 1 PTPRD MS23025 nsv517639 9 9109229 9109349 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652645,nssv689782,nssv680444,nssv671734,nssv674449,nssv660813,nssv672063,nssv683637,nssv666173 M 2026 0 9 PTPRD nsv518679 9 9109327 9115205 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696128 S 2026 0 1 PTPRD nsv892252 9 9154473 9466425 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586895 S 6533 1 0 PTPRD IS37986 nsv519001 9 9182961 9187298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696470 S 2026 0 1 PTPRD nsv520273 9 9185240 9187298 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682584,nssv662289,nssv681885 M 2026 0 3 PTPRD nsv892253 9 9239912 9277321 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598836 S 6533 0 1 PTPRD IS41308 dgv8033n71 9 9243587 9338102 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892254,nsv892255,nsv892256 M 6533 0 6 PTPRD IS30539,IS36219,MS13154,MS17114,MS23670,SP54030 nsv824847 9 9245377 9368016 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438976 S 31 0 1 PTPRD NA18973 nsv466129 9 9254932 9287697 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541757 S 1557 0 1 PTPRD 1780862358_A dgv8034n71 9 9294839 9339679 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892257,nsv892259 M 6533 0 3 PTPRD IS30522,IS31765,IS35229 nsv892258 9 9294839 9445711 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526073,nssv1517921 M 6533 0 2 PTPRD SP56993,SP57408 nsv818683 9 9316805 9320772 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417749 S 112 1 0 PTPRD NA12234 nsv520832 9 9316805 9354637 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697640 S 2026 0 1 PTPRD nsv524993 9 9317159 9320772 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701022 S 2026 1 0 PTPRD esv27358 9 9330141 9330948 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15243 S 451 0 1 PTPRD NA18916 nsv892260 9 9340608 9464970 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582669 S 6533 0 1 PTPRD IS36077 nsv892261 9 9354637 9399606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527715 S 6533 0 1 PTPRD SP80947 nsv892262 9 9372331 9435270 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501363 S 6533 0 1 PTPRD SP50916 nsv466130 9 9375640 9389018 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541758 S 1557 0 1 PTPRD NINDS_27 nsv6477 9 9385052 9418901 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8585 S 9 1 0 PTPRD NA12156 nsv892263 9 9394896 9426044 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539585,nssv1544908 M 6533 0 2 PTPRD MS14374,MS16588 nsv528425 9 9427674 9546992 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705018 S 2026 0 1 PTPRD dgv8035n71 9 9430838 9786577 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892265,nsv892264 M 6533 2 0 PTPRD MS15782,MS16708 dgv477n21 9 9492055 9496433 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523352,nsv522761 M 2026 0 2 PTPRD nsv892266 9 9496817 9694501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552856 S 6533 0 1 PTPRD MS19634 nsv466131 9 9506348 9530141 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541759 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00099 nsv892267 9 9506348 9578336 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554630 S 6533 0 1 PTPRD MS20872 nsv824848 9 9506912 9507972 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431462,nssv1424358 M 31 0 2 PTPRD AK18,NA18582 esv24167 9 9507036 9507778 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11474 S 451 0 1 PTPRD NA15510 nsv892268 9 9523788 9589213 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572297 S 6533 1 0 PTPRD IS32918 nsv892269 9 9552067 9595832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500047 S 6533 0 1 PTPRD SP50144 nsv892270 9 9581059 9850735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586896 S 6533 1 0 PTPRD IS37986 esv2422381 9 9637540 9877820 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161428 S 181 0 1 PTPRD ND04152 dgv8036n71 9 9663320 9720366 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892272,nsv892273,nsv892271 M 6533 0 3 PTPRD IS38362,MS23109,SP56267 nsv527763 9 9677742 9690448 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704250 S 2026 0 1 PTPRD nsv892274 9 9677742 9777587 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530004,nssv1529707 M 6533 0 2 PTPRD MS10109,MS10168 esv2556521 9 9686998 9688576 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5198244 S 1 0 1 PTPRD NA18507 nsv526471 9 9708066 9822245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702775 S 2026 0 1 PTPRD esv2445912 9 9729081 9730709 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220026 S 1 0 1 PTPRD NA18507 nsv892275 9 9753352 9784545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557469 S 6533 0 1 PTPRD MS22705 dgv8037n71 9 9768653 9841382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892286,nsv892276,nsv892283,nsv892281,nsv892278 M 6533 0 5 PTPRD IS31369,IS35229,IS35911,IS36219,MS12266 nsv471276 9 9775685 9853227 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545794,nssv545800,nssv545796,nssv545795,nssv545799,nssv545801,nssv545797 M 443 0 7 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00579,HGDP00875,HGDP00876,HGDP00878,HGDP00890,HGDP00892,HGDP00903 dgv8038n71 9 9775685 9872950 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892277,nsv892288 M 6533 0 2 PTPRD IS31067,IS36244 dgv8039n71 9 9779202 9788666 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892282,nsv892280,nsv892279 M 6533 0 12 PTPRD SP50116,SP50940,SP53458,SP54355,SP54663,SP55346,SP55677,SP56396,SP56971,SP57205,SP57874,SP80932 nsv892284 9 9783342 9806063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531327 S 6533 0 1 PTPRD MS10393 dgv8040n71 9 9784545 9799590 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892285,nsv892289 M 6533 0 2 PTPRD MS13292,MS15704 dgv8041n71 9 9784545 9859714 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892287,nsv892292 M 6533 0 2 PTPRD IS35572,IS41068 dgv2281e1 9 9786608 9804116 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25178,esv954,essv21096 M 271 0 0 PTPRD NA10854,NA11840 nsv437081 9 9788410 9814156 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466962 S 60 0 1 Samples from several populations that are part of the HapMap project. PTPRD NA10854 nsv518851 9 9788666 9809028 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696304 S 2026 0 1 PTPRD nsv892290 9 9790624 9806063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1601049 S 6533 0 1 PTPRD IS41964 nsv438091 9 9791153 9794313 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470064,nssv470061,nssv470062,nssv470065 M 269 0 2 Samples from several populations that are part of the HapMap project. PTPRD NA10854,NA11840 nsv892291 9 9792458 9841382 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581899,nssv1567596,nssv1588350,nssv1584036,nssv1571176 M 6533 0 5 PTPRD IS31123,IS32615,IS35743,IS36787,IS38183 nsv466144 9 9793954 9850735 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541761 S 1557 0 1 PTPRD 1780862088_A nsv507503 9 9801201 9807201 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620443,nssv621937,nssv623065 M 4 3 0 PTPRD NA10860,NA15510,NA18994 nsv466145 9 9806955 9845408 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541762 S 1557 0 1 PTPRD 1780862459_A esv27909 9 9807010 9808405 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17268 S 451 0 2 PTPRD NA12239,NA18502 dgv8042n71 9 9822245 9888870 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892294,nsv892293 M 6533 0 2 PTPRD MS17609,MS19683 nsv892295 9 9822245 10370406 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526348 S 6533 1 0 PTPRD SP57176 esv1229085 9 9823575 9823659 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3960470 S 2 0 1 PTPRD HuRef nsv892296 9 9842100 9927753 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518979 S 6533 0 1 PTPRD SP80925 nsv466147 9 9849571 9952204 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541763 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00782 esv2752311 9 9850870 9875640 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983130,essv6989736 M 771 0 1 PTPRD BEC_544 esv270476 9 9858711 9858997 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510788,essv2494306,essv2496483,essv2510383,essv2512135,essv2498172 M 157 6 0 Samples from several populations that are part of the HapMap project. PTPRD NA18501,NA18502,NA18510,NA19172,NA19238,NA19240 esv274211 9 9858719 9858891 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581748,essv2582971 M 7 2 0 Samples from several populations that are part of the HapMap project. PTPRD NA12878,NA12892 nsv528854 9 9872950 9927753 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705533 S 2026 0 1 PTPRD nsv524955 9 9880747 9883002 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700976 S 2026 0 1 PTPRD nsv892297 9 9883071 9927753 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542481 S 6533 1 0 PTPRD MS15782 nsv892298 9 9885998 9914724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545243 S 6533 1 0 PTPRD MS16708 nsv471277 9 9887866 9902826 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545802 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00864 nsv466148 9 9895178 9952381 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541764 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00726 nsv519026 9 9914724 9916888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696495 S 2026 0 1 PTPRD nsv892299 9 9919916 9964221 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593352 S 6533 0 1 PTPRD IS39414 nsv466150 9 9935648 9960203 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541766 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00612 esv2494179 9 9939836 9941224 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373780 S 1 0 1 PTPRD NA18507 esv1932426 9 9940235 9940964 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972280 S 1 0 1 PTPRD NA18507 esv3933 9 9940393 9940923 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26374 S 1 0 1 Single Asian sample YH PTPRD YH nsv416942 9 9940429 9940758 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435520 M 24 PTPRD esv6560 9 9940446 9940756 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29001 S 1 0 1 PTPRD SJK dgv915n27 9 9947866 9960203 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466151,nsv466152 M 1557 0 2 PTPRD HGDP00641,HGDP00688 nsv471278 9 9947866 9962321 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545803 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00649 dgv478n21 9 9947866 10001571 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526124,nsv525613 M 2026 0 2 PTPRD esv2427201 9 9948217 9949787 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332254 S 1 0 1 PTPRD NA18507 nsv892300 9 9950537 9968178 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584575,nssv1540213 M 6533 0 2 PTPRD IS37065,MS14737 nsv466153 9 9952204 9961050 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541769 S 1557 0 1 PTPRD 1780862358_A dgv2282e1 9 9952603 9964221 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5422,esv1195 M 271 0 0 PTPRD NA18542 nsv824849 9 9955191 9961944 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436806 S 31 0 1 PTPRD NA18542 nsv818684 9 9958038 9961050 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417144 S 112 0 1 PTPRD NA18542 dgv8043n71 9 9961050 10148866 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892301,nsv892302 M 6533 2 0 PTPRD MS15782,MS16708 nsv466155 9 9979765 10081133 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541770 S 1557 1 0 PTPRD NINDS_251 esv25218 9 10010070 10012636 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10762 S 451 5 0 PTPRD NA06985,NA07045,NA11995,NA12287,NA15510 nsv820396 9 10010070 10012636 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420798 S 1 0 1 PTPRD NA10851 nsv512088 9 10010138 10012651 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624643 S 1 0 1 PTPRD 1 esv1538552 9 10011015 10012139 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116622 S 2 0 1 PTPRD HuRef nsv831506 9 10030172 10194609 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447554 S 95 1 0 PTPRD nsv892303 9 10044994 10089327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587564 S 6533 0 1 PTPRD IS38065 nsv824850 9 10048091 10124157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428451 S 31 0 1 PTPRD AK10 esv28382 9 10049703 10050468 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18743 S 451 0 1 PTPRD NA19240 dgv8044n71 9 10051872 10113735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892305,nsv892304 M 6533 0 3 PTPRD IS33507,MS15199,SP54030 nsv892306 9 10067180 10117876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586897 S 6533 1 0 PTPRD IS37986 nsv471279 9 10071386 10105338 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545804 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00591 nsv466156 9 10071387 10105338 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541771 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP01238 nsv892307 9 10071387 10113735 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582975 S 6533 0 1 PTPRD IS36219 nsv510180 9 10087332 10093332 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621351 S 4 0 1 PTPRD NA15510 nsv466157 9 10109504 10160101 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541772 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00009 nsv507504 9 10123429 10129429 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617787 S 4 1 0 PTPRD CHM nsv512089 9 10126286 10127846 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624645 S 1 0 1 PTPRD 1 esv2114231 9 10126368 10127915 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835271 S 1 0 1 PTPRD NA18507 esv2640344 9 10126472 10128517 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5188794 S 1 0 1 PTPRD NA18507 esv4443 9 10126515 10127786 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26884 S 1 0 1 Single Asian sample YH PTPRD YH esv9310 9 10126551 10127714 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31751 S 1 0 1 PTPRD SJK nsv892308 9 10129580 10168560 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505268 S 6533 0 1 PTPRD SP53347 nsv892309 9 10148866 10182290 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580227 S 6533 0 1 PTPRD IS35244 nsv471280 9 10162572 10267602 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545805 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP01283 nsv466158 9 10162573 10267602 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541773 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP01283 nsv416572 9 10171969 10172259 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435150 M 24 PTPRD dgv2283e1 9 10178450 10360398 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv417,essv17829 M 271 0 0 PTPRD NA10831 nsv892310 9 10187122 10269606 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545245 S 6533 1 0 PTPRD MS16708 nsv416854 9 10192700 10200812 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435432 M 24 PTPRD nsv892311 9 10216620 10255282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570654,nssv1557470 M 6533 0 2 PTPRD IS32312,MS22705 nsv892312 9 10221178 10269606 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542483 S 6533 1 0 PTPRD MS15782 nsv892313 9 10248040 10301000 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587801,nssv1565281,nssv1556030 M 6533 0 3 PTPRD IS30384,IS38114,MS21758 nsv892314 9 10250263 10269606 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579851 S 6533 0 1 PTPRD IS35181 nsv516073 9 10304941 10323382 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673957,nssv702008,nssv700436,nssv697773,nssv666038,nssv657756,nssv656374,nssv671535,nssv684725 M 2026 6 3 PTPRD nsv892315 9 10328320 10474849 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586898 S 6533 1 0 PTPRD IS37986 nsv466159 9 10332841 10361281 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541774 S 1557 0 1 PTPRD 1780862001_A nsv892316 9 10338091 10545358 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542484 S 6533 1 0 PTPRD MS15782 nsv466161 9 10355060 10547349 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541776 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP01332 esv2435626 9 10357438 10358456 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390728 S 1 1 0 PTPRD NA18507 nsv466162 9 10359161 10396755 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541777 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP01329 nsv6478 9 10372390 10416916 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4617 S 9 0 1 PTPRD NA19129 esv2531598 9 10393638 10395453 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5241747 S 1 0 1 PTPRD NA18507 nsv511420 9 10394336 10398149 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626029 S 1 0 1 PTPRD 1 esv2223141 9 10394370 10395291 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4888414 S 1 0 1 PTPRD NA18507 esv3226 9 10394444 10395198 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25667 S 1 0 1 Single Asian sample YH PTPRD YH dgv1211n67 9 10394486 10395103 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824851,nsv824852 M 31 0 30 PTPRD AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 nsv821534 9 10394486 10395103 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420799 S 1 0 1 PTPRD NA10851 esv1010369 9 10394562 10395091 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568446 S 3 0 1 PTPRD HuRef nsv415375 9 10394562 10395091 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433953 M 24 PTPRD esv7310 9 10394563 10395092 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29751 S 1 0 1 PTPRD SJK esv1766329 9 10394564 10395094 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653828 S 2 0 1 PTPRD HuRef esv23663 9 10394571 10395103 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18280 S 451 19 0 PTPRD NA07045,NA11931,NA11995,NA12004,NA12006,NA12239,NA12489,NA12878,NA18502,NA18508,NA18523,NA18858,NA18907,NA19099,NA19108,NA19114,NA19147,NA19190,NA19240 nsv892317 9 10417780 10521641 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584696 S 6533 1 0 PTPRD IS37149 nsv831507 9 10429463 10666779 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447555 S 95 0 1 PTPRD esv273437 9 10451220 10451580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579893,essv2579112,essv2579796 M 7 3 0 Samples from several populations that are part of the HapMap project. PTPRD NA12892,NA19239,NA19240 esv269281 9 10451226 10451564 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516603,essv2516889,essv2517332,essv2519148,essv2518926,essv2518201 M 157 6 0 Samples from several populations that are part of the HapMap project. PTPRD NA12814,NA12892,NA18970,NA19141,NA19239,NA19240 esv1082326 9 10451263 10451263 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172598 S 2 1 0 PTPRD HuRef nsv892318 9 10452105 10513334 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545246 S 6533 1 0 PTPRD MS16708 nsv466163 9 10453098 10495161 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541778 S 1557 1 0 PTPRD NINDS_149 nsv526611 9 10453098 10495161 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702931 S 2026 1 0 PTPRD nsv521326 9 10458666 10474849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697932 S 2026 0 1 PTPRD nsv892319 9 10458666 10491953 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551790,nssv1591736,nssv1534571 M 6533 0 3 PTPRD IS39011,MS11669,MS18978 nsv466164 9 10480752 10513720 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541779 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00197 esv2409256 9 10488561 10489247 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4563480 S 1 0 1 PTPRD NA18507 esv4583 9 10488686 10489092 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27024 S 1 0 1 Single Asian sample YH PTPRD YH nsv415727 9 10488741 10489050 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434305 M 24 PTPRD esv1001856 9 10488745 10489054 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576977 S 3 0 1 PTPRD HuRef esv1585677 9 10488752 10489062 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3938619 S 2 0 1 PTPRD HuRef esv6672 9 10488754 10489056 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29113 S 1 0 1 PTPRD SJK dgv8045n71 9 10500683 10545039 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892321,nsv892320 M 6533 0 5 PTPRD SP51087,SP52569,SP54138,SP54561,SP56658 esv34558 9 10502307 10571500 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978879,essv6988064 M 771 0 1 PTPRD NA12752 dgv2284e1 9 10502307 10576527 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1256,essv20712 M 271 0 0 PTPRD NA12752 dgv479n21 9 10513334 10514338 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526560,nsv520437 M 2026 0 2 PTPRD nsv892322 9 10528336 10572246 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552857,nssv1594980 M 6533 0 2 PTPRD IS40067,MS19634 nsv437082 9 10531042 10537886 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466963 S 60 0 1 Samples from several populations that are part of the HapMap project. PTPRD NA12752 nsv442134 9 10531175 10573273 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 PTPRD nsv892323 9 10533899 10555574 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586899 S 6533 1 0 PTPRD IS37986 essv17415 9 10536257 10576527 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. PTPRD NA12760 esv34992 9 10536257 10576527 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988069,essv6978900 M 771 0 1 PTPRD NA12760 dgv916n27 9 10536779 10582492 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466165,nsv466166 M 1557 0 2 PTPRD HGDP00846,HGDP01009 nsv438092 9 10536814 10572586 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470067,nssv470066 M 269 0 2 Samples from several populations that are part of the HapMap project. PTPRD NA12752,NA12760 nsv892324 9 10536814 10592787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574068 S 6533 0 1 PTPRD IS33507 nsv437083 9 10537886 10548102 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466964 S 60 0 1 Samples from several populations that are part of the HapMap project. PTPRD NA12752 nsv892325 9 10541203 10550924 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554450 S 6533 0 1 PTPRD MS20813 nsv437084 9 10549329 10580179 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466965 S 60 0 1 Samples from several populations that are part of the HapMap project. PTPRD NA12752 nsv466167 9 10555574 10565728 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541782 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PTPRD HGDP00341 nsv831508 9 10574843 10759475 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447556 S 95 1 0 PTPRD nsv892326 9 10593372 10650729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550836 S 6533 0 1 PTPRD MS18620 dgv2285e1 9 10629445 10670025 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12104,esv1165 M 271 0 0 "" NA19173 nsv466168 9 10637333 10676548 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541783 S 1557 0 1 "" NINDS_209 nsv516181 9 10651370 10676548 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693619,nssv678890,nssv666664 M 2026 0 3 "" nsv466169 9 10668556 10686313 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541784 S 1557 0 1 "" 1780862095_A dgv8046n71 9 10668556 10846892 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892327,nsv892328 M 6533 2 0 "" IS37986,MS16708 nsv526808 9 10669889 10682461 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703162 S 2026 0 1 "" nsv892329 9 10676548 10813141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520388 S 6533 0 1 "" SP50834 esv275334 9 10678528 10680633 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585615 S 1250 0 1 "" nsv892330 9 10704842 10757678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542485 S 6533 1 0 "" MS15782 nsv6479 9 10717435 10746220 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8586 S 9 1 0 "" NA12156 nsv526362 9 10763858 10780580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702655 S 2026 0 1 "" nsv466170 9 10775491 10846892 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541785 S 1557 0 1 "" 1780862309_A esv3367 9 10818028 10818494 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25808 S 1 0 1 Single Asian sample YH "" YH esv8772 9 10818104 10818425 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31213 S 1 0 1 "" SJK nsv824854 9 10821437 10822177 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433790 S 31 0 1 "" NA18526 esv24836 9 10821583 10824501 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18487 S 451 0 1 "" NA12828 nsv520118 9 10853514 10857032 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679935,nssv660920 M 2026 0 2 "" esv2534105 9 10898495 10899805 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308692 S 1 0 1 "" NA18507 esv2122600 9 10898633 10899278 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947132 S 1 0 1 "" NA18507 nsv892331 9 10913290 11002562 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542486 S 6533 1 0 "" MS15782 esv269729 9 10923350 10923435 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517434,essv2514759 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA11918,NA12234 nsv892332 9 10938272 11006456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598342 S 6533 0 1 "" IS41202 esv269626 9 10944428 10944656 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2543945,essv2576594,essv2535360,essv2564489,essv2544868,essv2563000,essv2523896,essv2538384,essv2542616,essv2540372,essv2519800,essv2559791,essv2522262,essv2567436,essv2572295,essv2529973,essv2555997,essv2522430,essv2531518,essv2577041,essv2572001,essv2526796 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12154,NA12249,NA12751,NA18526,NA18532,NA18537,NA18547,NA18550,NA18552,NA18566,NA18570,NA18571,NA18582,NA18609,NA18949,NA18956,NA18960,NA18961,NA18970,NA18973,NA19005 nsv892333 9 10947549 11081254 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545248 S 6533 1 0 "" MS16708 nsv824855 9 10994776 11001249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425910 S 31 1 0 "" AK4 nsv892334 9 11020406 12129870 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586901 S 6533 1 0 "" IS37986 esv28606 9 11066314 11067076 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14876 S 451 1 0 "" NA18502 nsv824856 9 11088233 11088817 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436809 S 31 0 1 "" NA18542 esv28842 9 11096326 11099319 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18143 S 451 1 0 "" NA19190 dgv917n27 9 11098586 11129558 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466174,nsv466175 M 1557 0 2 "" HGDP01078,NINDS_241 dgv918n27 9 11101223 11186016 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466176,nsv466180 M 1557 0 2 "" 1780862432_A,1798860084_A nsv466177 9 11107514 11145468 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541792 S 1557 0 1 "" NINDS_115 nsv892335 9 11107514 11249755 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545249 S 6533 1 0 "" MS16708 dgv8047n71 9 11107514 11420659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892336,nsv892337,nsv892338 M 6533 0 3 "" IS32006,IS35181,MS10102 nsv466178 9 11119139 11145468 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541793 S 1557 1 0 "" 1780854339_A nsv466179 9 11119139 11149953 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541794 S 1557 0 1 "" NINDS_127 nsv508535 9 11137628 11157669 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620020 S 4 0 1 "" NA15510 nsv523016 9 11140966 11145468 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698692 S 2026 0 1 "" nsv466181 9 11140966 11181795 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541796 S 1557 0 1 "" 1798860567_A nsv516342 9 11145468 11149953 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667700,nssv662616,nssv700092,nssv670727 M 2026 0 4 "" nsv8415 9 11163118 11621933 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16535 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10847 nsv466182 9 11177028 11225126 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541797 S 1557 1 0 "" NINDS_228 dgv8048n71 9 11177028 11408394 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892340,nsv892339 M 6533 0 2 "" MS23709,MS25805 nsv519566 9 11186016 11208170 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696924 S 2026 0 1 "" nsv433499 9 11200214 11212778 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463380 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv24814 9 11200749 11206089 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14161 S 451 0 1 "" NA19190 esv26976 9 11214400 11218073 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10968 S 451 0 1 "" NA19114 esv2752275 9 11214627 11573747 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989247,essv6981532,essv6981531,essv6981533,essv6987979,essv6987978 M 771 0 1 "" BEC_293 esv2752276 9 11214627 11948106 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980664,essv6987830,essv6980662,essv6980663 M 771 0 1 "" BEC_101 nsv507505 9 11221192 11227192 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620444,nssv623066,nssv617788 M 4 3 0 "" CHM,NA15510,NA18994 nsv892341 9 11225126 11359154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598052 S 6533 0 1 "" IS40854 nsv520912 9 11244070 11298992 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697684 S 2026 1 0 "" nsv892342 9 11252118 11316457 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564875,nssv1555062 M 6533 0 2 "" IS30311,MS21182 nsv466183 9 11295052 11551438 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541798 S 1557 0 1 "" 1780854455_A nsv892343 9 11307902 11919890 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535436 S 6533 0 1 "" MS12209 esv271394 9 11319296 11319636 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545257,essv2570359,essv2525447,essv2562078,essv2544861,essv2523674,essv2552776,essv2538181,essv2540646,essv2524572,essv2534750,essv2561136,essv2549217,essv2559833,essv2567658,essv2569960,essv2563633,essv2553231,essv2572316,essv2578387,essv2555289,essv2533474,essv2555891,essv2534488,essv2531360,essv2573496,essv2543179,essv2525664,essv2526812 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA12044,NA12156,NA12874,NA18526,NA18537,NA18542,NA18547,NA18552,NA18555,NA18561,NA18562,NA18564,NA18570,NA18577,NA18593,NA18603,NA18605,NA18609,NA18940,NA18943,NA18944,NA18956,NA18959,NA18961,NA18964,NA18965,NA18980,NA19005 dgv8049n71 9 11333385 11408394 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892344,nsv892345 M 6533 0 2 "" IS33879,SP52020 nsv433257 9 11349656 11408394 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463138 S 9 0 1 "" NA15510 dgv8050n71 9 11359154 11418893 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892347,nsv892346 M 6533 0 2 "" IS31338,MS10802 nsv892348 9 11386601 11413465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567095,nssv1565809 M 6533 0 2 "" IS30522,IS31044 dgv8051n71 9 11391927 11421917 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892349,nsv892350 M 6533 0 3 "" IS31218,IS31419,IS39464 esv1979644 9 11398449 11399044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649786 S 1 0 1 "" NA18507 esv999334 9 11398593 11398593 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571806 S 3 1 0 "" HuRef esv1492491 9 11398892 11398892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3779888 S 2 1 0 "" HuRef nsv6480 9 11409939 11444220 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2803 S 9 1 0 "" NA18555 nsv892351 9 11418893 11452758 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565022 S 6533 1 0 "" IS30336 esv271755 9 11421267 11421657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494769,essv2505211,essv2507431,essv2510937 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18853,NA18912,NA19116 esv2422749 9 11422383 11423785 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284683 S 1 0 1 "" NA18507 esv1941814 9 11422954 11423609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4626037 S 1 0 1 "" NA18507 nsv466185 9 11430880 11551385 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541800 S 1557 0 1 "" NINDS_192 nsv892352 9 11439612 11477579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515193 S 6533 0 1 "" SP56136 nsv466186 9 11443474 11635495 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541801 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00608 nsv471281 9 11443474 11706862 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545806,nssv545807 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460,HGDP00608 esv272397 9 11483297 11483618 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581331 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv27876 9 11496417 11499213 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16615 S 451 0 1 "" NA18916 esv2422486 9 11502989 11665590 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161480 S 181 0 1 "" ND01701 nsv415625 9 11516325 11519374 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434203 M 24 "" nsv892353 9 11576357 11765361 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550837 S 6533 0 1 "" MS18620 esv2752278 9 11590500 11691727 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982683,essv6982682 M 771 0 1 "" BEC_579 nsv892354 9 11599469 11690487 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538466 S 6533 1 0 "" MS13727 nsv892355 9 11599469 12166780 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594045 S 6533 0 1 "" IS39672 nsv517037 9 11609839 11715843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653654,nssv693392,nssv682307,nssv657779,nssv686436,nssv702992,nssv683357,nssv654634 M 2026 0 8 "" nsv466187 9 11609839 11786468 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541802 S 1557 0 1 "" 1798860336_A esv29925 9 11620285 11710969 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18755,esv12952,esv20600 M 451 0 3 "" NA12828,NA18523,NA19129 nsv892356 9 11620528 11659949 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504628 S 6533 1 0 "" SP52676 dgv8052n71 9 11626204 11803213 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892357,nsv892361 M 6533 0 2 "" IS35083,SP52431 dgv8053n71 9 11626204 12068499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892358,nsv892373,nsv892360 M 6533 0 3 "" MS17114,MS23290,SP54722 nsv818685 9 11631257 11650080 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417233 S 112 1 0 "" NA18576 nsv466188 9 11635495 11706862 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541803 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00460 esv35053 9 11635592 11701800 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6979288,essv6988143 M 771 0 1 "" NA18523 dgv2286e1 9 11637401 11701989 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8521,esv897 M 271 0 0 "" NA18523 nsv892359 9 11637509 11735912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577646 S 6533 0 1 "" IS34515 nsv892362 9 11650080 11715843 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520629,nssv1570220,nssv1551241 M 6533 1 2 "" IS31835,MS18837,SP51182 nsv892363 9 11667252 11715843 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502392 S 6533 0 1 "" SP51161 nsv510181 9 11672518 11678518 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621352 S 4 0 1 "" NA15510 dgv8054n71 9 11673901 11815229 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892366,nsv892364 M 6533 0 2 "" IS31046,MS22756 nsv8416 9 11681456 11685070 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18268 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv892365 9 11690487 11749484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515628 S 6533 0 1 "" SP56231 dgv8055n71 9 11690487 12005741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892375,nsv892367,nsv892377,nsv892378 M 6533 0 5 "" IS31617,IS31991,IS39243,MS18665,SP57600 nsv831509 9 11692977 11877425 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447557 S 95 0 1 "" dgv8056n71 9 11700328 11777410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892369,nsv892368 M 6533 0 3 "" IS31286,IS37999,MS13143 dgv8057n71 9 11706862 11850446 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892372,nsv892370 M 6533 0 2 "" IS33616,MS16783 nsv892371 9 11716567 11807216 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587389 S 6533 0 1 "" IS38031 nsv892374 9 11728476 11749484 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512357 S 6533 0 1 "" SP55462 nsv517379 9 11735912 12371912 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678657,nssv682615,nssv700144,nssv693925,nssv666862,nssv662339,nssv679851,nssv674695,nssv651858,nssv702511,nssv695452,nssv692043,nssv658038,nssv683549,nssv658467,nssv659971,nssv677292,nssv702331,nssv671139,nssv681205,nssv687539,nssv662262,nssv671801,nssv659490,nssv694465,nssv700369,nssv697096,nssv654457,nssv700104,nssv668572,nssv676650,nssv657287,nssv702303,nssv658702,nssv667485,nssv666915,nssv678366,nssv684289,nssv700329,nssv670445,nssv693538,nssv696996,nssv688276,nssv678878,nssv677436,nssv686589,nssv683660,nssv657909,nssv705071,nssv673886,nssv681988,nssv656684,nssv671863,nssv702876,nssv674152,nssv702980,nssv704209,nssv681987,nssv663533,nssv699252,nssv699853,nssv678207,nssv681453,nssv688827,nssv686245,nssv656718,nssv652440,nssv678834,nssv664937,nssv681680,nssv687309,nssv680027,nssv662522,nssv692461,nssv697419,nssv673216,nssv684607,nssv675981,nssv699829 M 2026 0 79 "" nsv466192 9 11736915 11772345 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541804 S 1557 0 1 "" NINDS_78 dgv8058n71 9 11737626 11810083 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892376,nsv892379,nsv892380 M 6533 0 5 "" IS34489,IS37270,IS38153,SP54859,SP55715 dgv8059n71 9 11765361 12229604 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892384,nsv892408,nsv892388,nsv892382,nsv892381,nsv892411 M 6533 0 6 "" IS32686,MS10946,MS20406,MS22224,MS24783,SP55642 dgv8060n71 9 11772345 11821420 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892385,nsv892383 M 6533 0 2 "" MS23566,MS25475 dgv8061n71 9 11779900 11936421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892394,nsv892386 M 6533 0 2 "" IS40568,SP56126 dgv2287e1 9 11783343 12187607 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8006,essv11885,esv751,essv10421,essv13999 M 271 0 0 "" NA19221,NA19222 nsv466194 9 11786032 11895556 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541805 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01296 esv33110 9 11787265 11817757 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101374 S 51 0 1 "" 21805 nsv824857 9 11788359 11869613 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438978 S 31 0 1 "" NA18973 nsv892387 9 11788994 11893938 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553979 S 6533 0 1 "" MS20471 nsv892389 9 11789681 12021101 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593831,nssv1594407 M 6533 0 2 "" IS39527,IS39838 dgv8062n71 9 11796107 11980769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892393,nsv892390 M 6533 0 2 "" IS41924,SP51432 dgv8063n71 9 11796107 11986163 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892392,nsv892391 M 6533 2 0 "" MS15782,MS16708 nsv892395 9 11807216 12360519 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544430 S 6533 0 1 "" MS16343 esv2422478 9 11809951 12002316 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161258 S 181 0 1 "" ND00700 nsv892396 9 11815229 11859293 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534374,nssv1557926 M 6533 0 2 "" MS11556,MS22993 dgv8064n71 9 11817014 12072380 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892406,nsv892407,nsv892403,nsv892416,nsv892399,nsv892397,nsv892423,nsv892417 M 6533 0 9 "" MS10593,MS14810,MS18453,MS21924,MS23330,MS24868,MS24873,SP51144,SP58432 dgv8065n71 9 11817014 12169991 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892398,nsv892415 M 6533 0 2 "" IS34789,IS40571 nsv831510 9 11825277 11963059 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447558 S 95 0 1 "" dgv919n27 9 11825471 12021101 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466198,nsv466196 M 1557 0 2 "" 1780862081_A,HGDP00544 nsv471283 9 11825471 12362356 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545824,nssv545817,nssv545808,nssv545827,nssv545825,nssv545823,nssv545820,nssv545812,nssv545811,nssv545813,nssv545818,nssv545815,nssv545819,nssv545826,nssv545816,nssv545814,nssv545822 M 443 0 17 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00060,HGDP00544,HGDP00571,HGDP00592,HGDP00614,HGDP00620,HGDP00682,HGDP00684,HGDP00866,HGDP00890,HGDP00907,HGDP00926,HGDP00953,HGDP01227,HGDP01229,HGDP01231,HGDP01279 dgv257e55 9 11827866 12172800 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34579,esv34791 M 771 0 2 "" NA19221,NA19222 dgv8066n71 9 11837376 11950277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892400,nsv892401 M 6533 0 2 "" MS24792,SP57165 dgv8067n71 9 11840283 12010873 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892410,nsv892402,nsv892412,nsv892422,nsv892420,nsv892421,nsv892414,nsv892419,nsv892413 M 6533 0 24 "" MS10758,MS11049,MS11252,MS11273,MS11331,MS11694,MS12602,MS12883,MS13098,MS13207,MS13549,MS13629,MS15777,MS17221,MS17237,MS18021,MS18815,MS19808,MS21721,MS22251,MS23579,MS24762,MS24769,MS24867 dgv8068n71 9 11842043 11905692 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892409,nsv892404,nsv892405 M 6533 0 3 "" IS30198,IS33868,MS17502 nsv8417 9 11859288 12175635 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21840 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv32883 9 11861762 11959728 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100080 S 51 0 1 "" 22086 nsv466199 9 11864502 11893938 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541809 S 1557 0 1 "" NINDS_142 dgv8069n71 9 11865413 11927390 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892418,nsv892424 M 6533 0 2 "" MS25219,SP56938 nsv466200 9 11869832 11986163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541810 S 1557 0 1 "" 1780862595_A nsv466201 9 11877764 12138057 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541811 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00407 dgv8070n71 9 11880199 11966830 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892425,nsv892431,nsv892426 M 6533 0 3 "" IS35229,MS10682,MS18375 nsv438094 9 11881381 11883047 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470068,nssv470070,nssv470069 M 269 0 3 Samples from several populations that are part of the HapMap project. "" NA18859,NA19221,NA19222 dgv8071n71 9 11881432 12051324 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892440,nsv892434,nsv892443,nsv892439,nsv892442,nsv892427,nsv892441 M 6533 0 9 "" IS31022,MS15802,MS17609,MS18979,SP50979,SP52566,SP53894,SP58047,SP81454 dgv8072n71 9 11883047 11936421 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892429,nsv892428,nsv892430 M 6533 0 3 "" IS39718,MS15340,SP52051 dgv8073n71 9 11883047 12003711 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892437,nsv892432,nsv892438,nsv892433 M 6533 0 5 "" IS33263,IS35100,SP50101,SP50843,SP56788 dgv920n27 9 11893938 11955111 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466204,nsv466202 M 1557 0 2 "" 1780862460_A,HGDP00759 dgv921n27 9 11893938 12102566 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466203,nsv466214 M 1557 0 2 "" 1780854039_A,HGDP00187 dgv8074n71 9 11895556 11938271 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892435,nsv892436 M 6533 0 2 "" IS40662,SP58416 nsv437642 9 11895556 11939893 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467523 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19161 dgv2288e1 9 11895556 12021984 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8081,essv13383 M 271 0 0 "" NA19159,NA19161 esv34720 9 11895556 12057914 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980988,essv6980987 M 771 0 1 "" NA19161 essv3936 9 11895556 12081983 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18970 esv2421779 9 11896379 12000394 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5044647,essv5120901,essv5085684,essv5102841,essv5118951,essv5149835,essv5026611,essv5053279,essv5034575,essv5053481,essv5038674,essv5068895,essv5030425,essv5107595,essv5010255,essv5093791,essv5052082,essv5125781,essv5116011,essv5021904,essv5060797,essv5074629,essv5084464,essv5020919,essv5015298,essv5117259 M 1184 0 26 "" NA12383,NA18134,NA18544,NA18610,NA18939,NA18970,NA19159,NA19161,NA19184,NA19221,NA19222,NA19310,NA19403,NA19446,NA19449,NA19469,NA19658,NA19834,NA20302,NA21091,NA21390,NA21438,NA21439,NA21488,NA21527,NA21583 nsv438095 9 11903287 11978036 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470071,nssv470072 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19159,NA19161 dgv8075n71 9 11903439 12105049 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892453,nsv892446,nsv892444,nsv892445 M 6533 0 4 "" IS30567,MS13428,MS23628,MS24662 nsv466205 9 11905692 11995070 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541815 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01333 nsv818686 9 11905692 12000374 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416766,nssv1416765 M 112 0 2 "" NA19159,NA19161 dgv8076n71 9 11907701 12021101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892450,nsv892452,nsv892447,nsv892451 M 6533 0 8 "" MS15060,MS17121,MS17305,MS18407,MS19487,MS25439,SP50073,SP55847 dgv8077n71 9 11909732 11959789 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892449,nsv892448 M 6533 0 2 "" IS30824,MS19746 nsv466207 9 11920627 11942643 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541817 S 1557 0 1 "" 1780854445_A dgv8078n71 9 11920638 11950277 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892454,nsv892455 M 6533 0 2 "" IS35548,IS39999 nsv818687 9 11924556 11942796 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418483,nssv1418484 M 112 0 2 "" NA19193,NA19194 dgv8079n71 9 11924943 12010873 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892469,nsv892463,nsv892473,nsv892456,nsv892462,nsv892470 M 6533 0 22 "" MS10119,MS10413,MS10729,MS12347,MS12482,MS12510,MS12963,MS13487,MS13502,MS15340,MS15628,MS16011,MS16352,MS18896,MS20860,MS23191,MS24393,MS24508,MS26033,SP52872,SP55348,SP81213 dgv8080n71 9 11925261 11959789 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892457,nsv892465 M 6533 0 4 "" IS32724,IS35354,IS38504,IS39331 dgv8081n71 9 11925261 12048197 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892471,nsv892474,nsv892487,nsv892483,nsv892489,nsv892475,nsv892493,nsv892458,nsv892476 M 6533 0 14 "" IS30150,IS30507,IS31234,IS38431,MS17677,MS17819,MS18413,MS18894,MS20009,MS20037,MS20120,MS22789,SP55647,SP56807 dgv8082n71 9 11925261 12194748 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892477,nsv892459,nsv892460,nsv892478,nsv892472,nsv892479,nsv892480,nsv892497 M 6533 0 17 "" IS31207,IS32766,IS34378,IS35167,IS35768,IS38129,IS38635,IS40223,MS14637,SP50954,SP52292,SP52376,SP52390,SP52868,SP55407,SP55426,SP81211 dgv8083n71 9 11926706 11975139 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892461,nsv892467,nsv892466 M 6533 0 6 "" MS11361,MS12331,MS18648,MS21841,MS25219,SP57774 dgv8084n71 9 11926706 12068499 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892484,nsv892464 M 6533 0 2 "" MS17611,MS25101 nsv892468 9 11927390 11986163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591123 S 6533 0 1 "" IS38640 nsv442135 9 11931913 11942799 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515123 9 11936127 11942764 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628007 S 1414 0 1 "" nsv466208 9 11936421 11967968 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541818 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00620 nsv466210 9 11936421 11997658 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541819 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01023 nsv437643 9 11939893 12009425 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467524 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19161 nsv466215 9 11941983 11942796 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541821 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01406 dgv8085n71 9 11943279 11986163 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892481,nsv892482 M 6533 0 2 "" IS36517,SP50857 dgv8086n71 9 11943279 12121415 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892504,nsv892490,nsv892485,nsv892505,nsv892506,nsv892501,nsv892486,nsv892488,nsv892507,nsv892498 M 6533 0 15 "" IS30435,IS31875,IS33544,IS38577,IS38840,IS38972,IS39095,IS39125,IS39354,IS40678,IS41824,IS41901,MS15167,MS16564,MS25963 dgv258e55 9 11947750 12129870 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34686,esv2752279,esv2752280 M 771 0 3 "" BEC_293,NA18970,SPC_87 dgv922n27 9 11948106 11986163 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466218,nsv466216 M 1557 0 2 "" 1780862393_A,NINDS_174 dgv2289e1 9 11948972 12164755 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1946,essv3953 M 271 0 0 "" NA18959,NA18970 dgv8087n71 9 11955111 12021101 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892491,nsv892492,nsv892494 M 6533 0 3 "" IS35498,IS38378,IS39958 nsv442537 9 11957036 11965492 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515124 9 11957270 11965444 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628008 S 1414 0 1 "" nsv892495 9 11959789 11986163 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500777 S 6533 0 1 "" SP51016 nsv466219 9 11959789 12003711 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541824 S 1557 0 1 "" NINDS_6 dgv8088n71 9 11960867 12005741 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892496,nsv892499 M 6533 0 4 "" IS30067,IS30085,IS41331,SP54356 dgv8089n71 9 11967968 12057914 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892502,nsv892500,nsv892503 M 6533 0 3 "" IS38183,MS13527,SP54177 dgv923n27 9 11985297 12114410 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466230,nsv466223,nsv466229,nsv466221,nsv466231,nsv466222,nsv466224,nsv466226 M 1557 0 8 "" 1780862274_A,HGDP00060,HGDP00338,HGDP00684,HGDP00769,HGDP00955,HGDP00968,NINDS_169 dgv8090n71 9 11986163 12155758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892508,nsv892516 M 6533 0 2 "" IS33696,IS38466 nsv428209 9 11988111 12164755 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451646 S 62 0 1 "" HGDP00476 dgv8091n71 9 11993252 12266668 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892509,nsv892510 M 6533 0 2 "" IS31225,IS37995 nsv818688 9 11994095 12005741 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417669 S 112 1 0 "" NA18994 dgv8092n71 9 11995070 12083072 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892519,nsv892511,nsv892513,nsv892518,nsv892517,nsv892522,nsv892524 M 6533 0 10 "" IS32006,IS34599,MS11337,MS14769,MS15940,MS16898,MS19571,SP51256,SP54006,SP56248 dgv8093n71 9 11995889 12114410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892520,nsv892515,nsv892512,nsv892514 M 6533 0 23 "" MS10105,MS17522,MS18848,MS23767,SP50623,SP51457,SP52130,SP52369,SP52529,SP53280,SP53317,SP54367,SP54406,SP54990,SP55369,SP55800,SP55971,SP56143,SP56518,SP56818,SP57681,SP57959,SP58561 essv2107 9 11997006 12107194 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18959 esv34918 9 11997375 12089400 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980137,essv6980138,essv6987722 M 771 0 1 "" NA18959 dgv924n27 9 12003711 12091436 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466225,nsv466232,nsv466233,nsv466234 M 1557 0 4 "" HGDP00243,HGDP00251,HGDP00476,HGDP01337 nsv466227 9 12005741 12055319 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541831 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00522 nsv892521 9 12010873 12166780 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557478 S 6533 1 0 "" MS22705 nsv6481 9 12013049 12045458 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10655 S 9 1 0 "" NA18956 esv1595646 9 12016355 12016355 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002255 S 2 1 0 "" HuRef nsv892523 9 12021101 12072380 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573393 S 6533 0 1 "" IS33345 dgv8094n71 9 12038206 12166780 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892525,nsv892531,nsv892529 M 6533 0 3 "" IS32775,IS35127,SP57062 dgv925n27 9 12041998 12090880 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466237,nsv466240,nsv466238 M 1557 0 3 "" HGDP01206,HGDP01229,HGDP01245 nsv892526 9 12041998 12096505 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544659 S 6533 0 1 "" MS16416 dgv8095n71 9 12048197 12247514 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892527,nsv892534,nsv892533 M 6533 0 3 "" IS33533,IS33832,IS38440 nsv892528 9 12051324 12121415 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591942 S 6533 0 1 "" IS39102 nsv892530 9 12057914 12129870 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542488 S 6533 1 0 "" MS15782 nsv892532 9 12057914 12224642 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545251 S 6533 1 0 "" MS16708 nsv892535 9 12068499 12102566 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600867 S 6533 0 1 "" IS41938 nsv892536 9 12068499 12129870 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521246,nssv1541359 M 6533 1 1 "" MS15277,SP52313 dgv8096n71 9 12068499 12134878 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892538,nsv892539,nsv892544,nsv892537 M 6533 0 4 "" IS36315,SP51419,SP56780,SP56913 dgv8097n71 9 12075717 12190957 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892540,nsv892545,nsv892547 M 6533 0 6 "" IS30694,IS35765,IS38329,IS38378,IS41948,MS22104 esv34030 9 12082895 12103183 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" dgv8098n71 9 12083072 12114410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892541,nsv892543,nsv892542 M 6533 0 9 "" MS11867,MS14416,MS14708,MS18211,MS18946,MS19842,MS21828,MS22962,MS24605 nsv466241 9 12085022 12105049 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541843 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00552 dgv926n27 9 12100840 12169991 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466247,nsv466246,nsv466243 M 1557 0 3 "" 1780854491_A,1798860567_A,HGDP00738 dgv8099n71 9 12105049 12182428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892549,nsv892546 M 6533 0 2 "" MS15601,MS19582 nsv892548 9 12105049 12224642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541178 S 6533 0 1 "" MS15199 nsv416435 9 12110360 12110360 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435013 M 24 "" dgv8100n71 9 12129870 12190957 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892551,nsv892550 M 6533 0 2 "" IS30537,IS36219 nsv892552 9 12144939 12175037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566345 S 6533 0 1 "" IS30667 nsv831511 9 12149074 12379058 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447559 S 95 0 1 "" nsv892553 9 12155072 12175037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516427 S 6533 0 1 "" SP56833 nsv466249 9 12155072 12360104 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541847 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00614 dgv8101n71 9 12158247 12190957 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892555,nsv892554 M 6533 0 4 "" IS33507,IS35572,IS41292,MS13727 nsv892556 9 12158247 12224642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568147 S 6533 0 1 "" IS31205 dgv8102n71 9 12158247 12677872 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892558,nsv892562,nsv892557 M 6533 3 0 "" IS35028,IS37986,MS15782 dgv8103n71 9 12169991 12340523 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892559,nsv892560 M 6533 0 2 "" MS21242,SP81172 esv271434 9 12187384 12187779 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500945,essv2498736 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA19138 nsv526773 9 12190957 12459893 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703125 S 2026 1 0 "" nsv892561 9 12196873 12253833 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564554,nssv1565687 M 6533 0 2 "" IS30238,IS30506 nsv466252 9 12196873 12332809 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541848 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01250 dgv2290e1 9 12225048 12612041 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8573,essv10083 M 271 0 0 "" NA19130 esv557 9 12225048 12774092 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 C9orf150,TYRP1 nsv892563 9 12229832 12266668 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545252 S 6533 1 0 "" MS16708 nsv824858 9 12256407 12257121 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425911 S 31 1 0 "" AK4 esv34901 9 12273944 12579068 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980815,essv6980816,essv6980817,essv6987856,essv6987857 M 771 0 1 "" NA19130 nsv892564 9 12275170 12530358 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525501 S 6533 0 1 "" SP56653 nsv831512 9 12279276 12433754 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447560 S 95 0 1 "" nsv892565 9 12287444 12338492 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582362 S 6533 0 1 "" IS35911 esv274679 9 12296429 12296796 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580781,essv2579522 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269769 9 12296434 12296804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510601,essv2494218,essv2496211,essv2501151,essv2499267,essv2501543,essv2501011,essv2498548,essv2493912,essv2495957,essv2501404,essv2504608,essv2510388,essv2512014,essv2498081,essv2513061 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18501,NA18502,NA18511,NA18516,NA18605,NA18608,NA18856,NA18858,NA18871,NA18961,NA19093,NA19099,NA19172,NA19238,NA19240 nsv892566 9 12312504 12378022 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580198 S 6533 1 0 "" IS35240 nsv892567 9 12318006 12367908 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558547 S 6533 0 1 "" MS23340 nsv892568 9 12318006 12390136 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531896 S 6533 0 1 "" MS10695 nsv466253 9 12323231 12354913 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541849 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01231 esv23855 9 12358573 12359413 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11543 S 451 1 0 "" NA12239 nsv466254 9 12369547 12411929 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541850 S 1557 0 1 "" 1780862412_A nsv524238 9 12425710 12489211 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700128 S 2026 0 1 "" nsv892569 9 12436321 12512037 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589271 S 6533 0 1 "" IS38333 esv2422212 9 12438789 13117738 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161537 S 181 1 0 C9orf150,MPDZ,TYRP1 ND03071 nsv8418 9 12461413 12480843 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17545,nssv20007,nssv19572,nssv16360 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA12802,NA18502,NA18980,NA19132 nsv892570 9 12466727 12556736 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543193 S 6533 0 1 "" MS16078 nsv471284 9 12469157 12503587 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545828 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00864 nsv831513 9 12521673 12685747 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447561 S 95 1 0 TYRP1 nsv892571 9 12530358 12614463 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579124 S 6533 0 1 "" IS35018 nsv892572 9 12539675 12705816 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545253 S 6533 1 0 TYRP1 MS16708 esv2476427 9 12546260 12550271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5331495 S 1 0 1 "" NA18507 esv2256079 9 12546657 12549860 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842071 S 1 0 1 "" NA18507 esv4885 9 12546816 12549717 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27326 S 1 0 1 Single Asian sample YH "" YH nsv416575 9 12546834 12549646 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435153 M 24 "" nsv516127 9 12571270 12602897 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694491,nssv666387,nssv704725,nssv676835 M 2026 2 2 "" esv271567 9 12591760 12592082 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508014,essv2513136,essv2493802,essv2498320,essv2508780,essv2500402,essv2503367,essv2513008,essv2494548,essv2497257,essv2497766,essv2499976,essv2508257,essv2499885,essv2504584,essv2507843,essv2511324,essv2494476,essv2500089,essv2507704,essv2508408,essv2510067,essv2496136,essv2499297,essv2501560,essv2512843,essv2507534,essv2507041,essv2509211,essv2507392,essv2503146,essv2511132,essv2497938,essv2502474,essv2512376,essv2493059,essv2509407,essv2500482,essv2497447,essv2503694,essv2495179,essv2502644,essv2500729,essv2512127,essv2498226,essv2503644,essv2495826,essv2511511 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA12003,NA12249,NA18517,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18570,NA18572,NA18573,NA18576,NA18582,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18870,NA18909,NA18912,NA18943,NA18944,NA18945,NA18948,NA18949,NA18951,NA18953,NA18956,NA18959,NA18960,NA18964,NA18965,NA18973,NA19238,NA19240 esv272368 9 12591770 12592096 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582194,essv2582663,essv2584059,essv2584461,essv2583830 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 essv18757 9 12611942 12774092 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. C9orf150,TYRP1 NA12874 nsv466257 9 12661693 12682364 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541851 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00951 nsv524095 9 12662097 12667412 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699969 S 2026 1 0 "" nsv521549 9 12665264 12667412 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698164 S 2026 1 0 "" nsv8419 9 12671187 12677171 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20483,nssv16914 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18972,NA18975 nsv824859 9 12674987 12676760 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429963,nssv1433000 M 31 2 0 "" AK14,NA18972 essv9842 9 12711881 12748881 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv8420 9 12715200 12740151 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18298 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 nsv818690 9 12716962 12738962 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418171 S 112 0 1 "" NA19144 dgv8104n71 9 12720636 12908226 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892573,nsv892574 M 6533 2 0 C9orf150 IS37986,MS15782 nsv516527 9 12728690 12738486 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669026,nssv655544,nssv668891 M 2026 0 3 "" nsv518878 9 12738486 12738633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696335 S 2026 0 1 "" nsv892575 9 12794243 12842462 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545254 S 6533 1 0 C9orf150 MS16708 esv2549874 9 12887587 12889154 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378366 S 1 0 1 "" NA18507 esv2211351 9 12887805 12888514 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505032 S 1 0 1 "" NA18507 esv3235 9 12887933 12888354 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25676 S 1 0 1 Single Asian sample YH "" YH nsv528532 9 12897902 12900295 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705143 S 2026 0 1 "" dgv8105n71 9 12915921 13110380 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892576,nsv892579 M 6533 2 0 MPDZ IS38210,SP54226 nsv466258 9 12918475 12958196 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541852 S 1557 0 1 "" 1780854568_A nsv892577 9 12918475 12985112 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570134 S 6533 0 1 "" IS31812 nsv892578 9 12932956 13475035 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586904 S 6533 1 0 FLJ41200,MPDZ IS37986 nsv416305 9 12952792 12952846 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434883 M 24 "" esv1057441 9 12989279 12989279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4130436 S 2 1 0 "" HuRef esv1660005 9 12989314 12989367 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3668863 S 2 0 1 "" HuRef esv267591 9 13040005 13041034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502347,essv2503406,essv2493263,essv2493515,essv2501824 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12004,NA12716,NA18504,NA19137,NA19239 esv273378 9 13040076 13041053 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579276 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv892580 9 13055680 13105422 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545255 S 6533 1 0 MPDZ MS16708 esv28605 9 13055810 13059741 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18418 S 451 0 1 "" NA19147 nsv892581 9 13075379 13110380 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542491 S 6533 1 0 MPDZ MS15782 nsv892582 9 13075379 13137764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521007 S 6533 0 1 MPDZ SP51379 nsv528464 9 13127603 13137764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705066 S 2026 0 1 MPDZ nsv518837 9 13134078 13137764 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696290 S 2026 0 1 MPDZ nsv892583 9 13156139 13340478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542492 S 6533 1 0 MPDZ MS15782 nsv892584 9 13204871 13340478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579125,nssv1581641 M 6533 0 2 MPDZ IS35018,IS35675 esv1002340 9 13212782 13212782 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576094 S 3 1 0 MPDZ HuRef esv2752281 9 13274600 13395072 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989497,essv6985737,essv6985736,essv6990134 M 771 0 1 "" SPC_38 nsv520729 9 13305466 13323297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686461,nssv674821 M 2026 0 2 "" nsv831515 9 13323205 13507308 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447563 S 95 0 1 FLJ41200 nsv527389 9 13370507 13378038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703824 S 2026 0 1 "" nsv892585 9 13498282 13611142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542493 S 6533 1 0 "" MS15782 dgv1212n67 9 13561265 13565952 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824860,nsv824861 M 31 0 6 "" NA18526,NA18547,NA18566,NA18592,NA18942,NA18999 esv27436 9 13561339 13565947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15062 S 451 0 1 "" NA06985 nsv515730 9 13561341 13561933 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674668,nssv662956,nssv652042,nssv655579,nssv669735,nssv669229,nssv669027,nssv665469,nssv669485,nssv652126,nssv653268,nssv675982,nssv668916,nssv655516,nssv665111,nssv678835,nssv676027 M 2026 0 17 "" nsv892586 9 13591074 13611142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564267 S 6533 0 1 "" IS30196 nsv892587 9 13591074 13722363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586905 S 6533 1 0 "" IS37986 esv269771 9 13595491 13595855 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494837,essv2498334,essv2508789,essv2500401,essv2503309,essv2497286,essv2513013,essv2494545,essv2497197,essv2497833,essv2504487,essv2506356,essv2511364,essv2500651,essv2494454,essv2500162,essv2507624,essv2512757,essv2508126,essv2508417,essv2508627,essv2510026,essv2499247,essv2501538,essv2512924,essv2507521,essv2505308,essv2504982,essv2503154,essv2497914,essv2502403,essv2512370,essv2493082,essv2505387,essv2509380,essv2497385,essv2495196,essv2502684,essv2500815,essv2512789 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA18519,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18605,NA18608,NA18609,NA18638,NA18853,NA18942,NA18943,NA18945,NA18948,NA18949,NA18951,NA18952,NA18953,NA18959,NA18964,NA18965,NA18973,NA18980 nsv526341 9 13599898 13602345 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702633 S 2026 0 1 "" esv2547786 9 13645005 13646498 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385252 S 1 0 1 "" NA18507 esv1973014 9 13645222 13645950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648048 S 1 0 1 "" NA18507 nsv892588 9 13657639 13705063 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515959 S 6533 0 1 "" SP56330 nsv892589 9 13679066 13705328 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545256,nssv1556460 M 6533 1 1 "" MS16708,MS22013 nsv892590 9 13679066 13767299 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542494 S 6533 1 0 "" MS15782 nsv507506 9 13740829 13746829 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621938,nssv623068 M 4 2 0 "" NA10860,NA18994 nsv892591 9 13753734 13818594 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527606 S 6533 0 1 "" SP58558 esv2494784 9 13761508 13763012 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376310 S 1 0 1 "" NA18507 nsv892592 9 13777648 13849052 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586906 S 6533 1 0 "" IS37986 dgv44e194 9 13830594 13831293 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2080821,esv2322677 M 1 0 1 "" NA18507 nsv892593 9 13938798 14223159 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565831 S 6533 1 0 NFIB IS30522 nsv892594 9 13960372 13995286 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586907 S 6533 1 0 "" IS37986 esv260024 9 13981113 13982740 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400867,essv2399148 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18564,NA18609 nsv892595 9 14119951 14158029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545257 S 6533 1 0 NFIB MS16708 nsv892596 9 14135487 14198724 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586908 S 6533 1 0 NFIB IS37986 nsv892597 9 14153383 14223159 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542495 S 6533 1 0 NFIB MS15782 nsv892598 9 14224315 14264950 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586909 S 6533 1 0 NFIB IS37986 nsv831516 9 14270695 14427445 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447564 S 95 0 1 NFIB nsv528796 9 14282720 14283522 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705467 S 2026 0 1 NFIB nsv892599 9 14300504 14340469 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544265 S 6533 0 1 NFIB MS16315 esv991653 9 14308224 14328870 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565795 S 3 0 0 NFIB HuRef dgv480n21 9 14334888 14338563 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523410,nsv527980 M 2026 0 2 NFIB nsv526315 9 14337811 14352390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702599 S 2026 0 1 NFIB nsv892600 9 14360172 14459146 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542496 S 6533 1 0 NFIB MS15782 nsv892601 9 14370528 14395555 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545258 S 6533 1 0 NFIB MS16708 esv6710 9 14381173 14381268 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29151 S 1 1 0 NFIB SJK dgv8106n71 9 14436001 14465352 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892603,nsv892602 M 6533 2 0 "" SP52298,SP57250 esv2277533 9 14442268 14442681 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625633 S 1 0 1 "" NA18507 esv1964388 9 14488598 14489007 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4566612 S 1 0 1 "" NA18507 nsv831517 9 14502924 14728206 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447565,nssv1447568,nssv1447567,nssv1447571,nssv1447570,nssv1447569,nssv1447566 M 95 0 7 CER1,FREM1,ZDHHC21 esv27237 9 14508139 14509477 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12807 S 451 1 0 "" NA12156 nsv892604 9 14509301 14549910 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542497 S 6533 1 0 "" MS15782 nsv520645 9 14556116 14556406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673524,nssv691090 M 2026 0 2 "" nsv521363 9 14556406 14681897 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697973 S 2026 0 1 ZDHHC21 dgv8107n71 9 14575052 14699151 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892605,nsv892606 M 6533 2 0 ZDHHC21 MS15782,MS16708 nsv471285 9 14579173 14612952 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545831,nssv545830,nssv545829 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZDHHC21 HGDP00864,HGDP00875,HGDP01061 nsv892607 9 14579173 14612952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583533 S 6533 0 1 ZDHHC21 IS36527 dgv8108n71 9 14579173 14684302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892609,nsv892608 M 6533 0 4 ZDHHC21 IS30539,IS31041,IS31179,IS35181 nsv527019 9 14582180 14584501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703394 S 2026 0 1 "" nsv892610 9 14612952 14644900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586910 S 6533 1 0 ZDHHC21 IS37986 esv1979971 9 14622399 14622824 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698100 S 1 0 1 ZDHHC21 NA18507 nsv892611 9 14625546 14666174 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598533 S 6533 0 1 ZDHHC21 IS41068 esv2425554 9 14625621 14627141 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224925 S 1 0 1 ZDHHC21 NA18507 nsv466260 9 14629666 14652459 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541853 S 1557 0 1 ZDHHC21 NINDS_199 nsv507507 9 14630453 14636453 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623069 S 4 1 0 ZDHHC21 NA18994 dgv8109n71 9 14644900 14684302 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892612,nsv892613 M 6533 0 2 ZDHHC21 IS36244,MS10802 nsv526219 9 14647139 14653394 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702483 S 2026 0 1 ZDHHC21 nsv510182 9 14655868 14661868 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621353 S 4 0 1 ZDHHC21 NA15510 nsv6482 9 14663695 14708568 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5149 S 9 0 1 ZDHHC21 NA19129 esv26384 9 14676873 14678481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16494 S 451 0 7 ZDHHC21 NA18505,NA18508,NA18858,NA18916,NA19099,NA19108,NA19147 nsv6483 9 14691613 14721879 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5150 S 9 1 0 CER1 NA19129 nsv892614 9 14702257 14746969 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586911 S 6533 1 0 CER1,FREM1 IS37986 nsv831518 9 14750638 14943501 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447572 S 95 0 1 FREM1 dgv8110n71 9 14751260 14772367 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892616,nsv892615 M 6533 2 0 FREM1 MS15782,MS16708 nsv416930 9 14768629 14770431 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435508 M 24 FREM1 nsv892617 9 14781348 14879834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586912 S 6533 1 0 FREM1 IS37986 nsv892618 9 14801971 14834777 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523091 S 6533 0 1 FREM1 SP53625 nsv6484 9 14809687 14841742 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5151 S 9 1 0 FREM1 NA19129 nsv892619 9 14811819 14856389 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542500 S 6533 1 0 FREM1 MS15782 esv2505227 9 14850384 14851998 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308037 S 1 0 1 FREM1 NA18507 esv2144591 9 14851095 14851493 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4799024 S 1 0 1 FREM1 NA18507 nsv521718 9 14856389 14857958 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694091 S 2026 0 1 FREM1 nsv820261 9 14858771 14859305 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418989 S 2 1 0 FREM1 AK1 esv272085 9 14867416 14867743 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558153,essv2576087,essv2542357,essv2532011,essv2535081,essv2544506,essv2520367,essv2529248,essv2564620,essv2577756,essv2557147,essv2552509,essv2527344,essv2551136,essv2569041,essv2543528,essv2526602,essv2545821,essv2551579,essv2533332,essv2547670,essv2563294 M 157 22 0 Samples from several populations that are part of the HapMap project. FREM1 NA07051,NA07347,NA10847,NA10851,NA11830,NA11919,NA12006,NA12249,NA12414,NA12716,NA12749,NA12751,NA12761,NA18501,NA18502,NA18522,NA18858,NA18861,NA18870,NA19114,NA19239,NA19257 esv273155 9 14867418 14867726 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579291 S 7 1 0 Samples from several populations that are part of the HapMap project. FREM1 NA19239 esv275116 9 14882721 14883511 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585547,essv2585367 M 1250 1 1 FREM1 esv274583 9 14891557 14891642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581401,essv2581237 M 7 2 0 Samples from several populations that are part of the HapMap project. FREM1 NA12878,NA19240 nsv892620 9 14912877 15076021 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542501 S 6533 1 0 LOC389705 MS15782 dgv8111n71 9 14918013 15045607 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892622,nsv892621 M 6533 2 0 LOC389705 IS37986,MS16708 esv990026 9 14981458 14981458 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574809 S 3 1 0 "" HuRef esv1479370 9 14981544 14981544 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887545 S 2 1 0 "" HuRef nsv831519 9 15008160 15199127 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447574 S 95 0 1 LOC389705,TTC39B esv21885 9 15010755 15012389 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12218 S 451 0 3 "" NA11894,NA11995,NA12287 esv2610285 9 15039678 15042281 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240074 S 1 0 1 "" NA18507 esv2375495 9 15040437 15041997 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844331 S 1 0 1 "" NA18507 nsv416688 9 15051456 15051456 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435266 M 24 "" nsv520384 9 15056819 15073613 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697384 S 2026 0 1 "" nsv892623 9 15069847 15117129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586914 S 6533 1 0 "" IS37986 esv27537 9 15147502 15149344 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17700 S 451 0 3 "" NA18505,NA18517,NA19190 esv2422124 9 15147746 15149421 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5028680,essv5094288,essv5140379,essv5159473,essv5116439,essv5127915,essv5050787,essv5157113,essv5033333,essv5059849,essv5054062,essv5066420,essv5087004,essv5034693,essv5075450,essv5025164,essv5138192,essv5019203,essv5090538,essv5104437,essv5126672,essv5059325,essv5066407,essv5069891,essv5120940,essv5006090,essv5097758,essv5146441,essv5146808,essv5108498,essv5129831,essv5067459,essv5096242,essv5137258,essv5045606,essv5128189,essv5115704,essv5154370,essv5021015,essv5062763,essv5134496,essv5104449,essv5157441,essv5127698,essv5045036,essv5018687,essv5003331,essv5014618,essv5067114,essv5109380,essv5061981,essv5049178,essv5022097,essv5030157,essv5107145,essv5106566,essv5122252,essv5152879,essv5114195,essv5057336,essv5146923,essv5121579,essv5057028,essv5036730,essv5011059,essv5152107,essv5036665,essv5041100,essv5057394,essv5085959,essv5118973,essv5007121,essv5028373,essv5019902,essv5112327,essv5055630,essv5067877,essv5038872,essv5070655,essv5151447,essv5018901,essv5135100,essv5114150,essv5057124,essv5148849,essv5004700 M 1184 0 86 "" NA18488,NA18500,NA18501,NA18503,NA18504,NA18505,NA18517,NA18862,NA18863,NA18867,NA18869,NA18910,NA18911,NA18934,NA18935,NA19031,NA19095,NA19113,NA19115,NA19153,NA19175,NA19185,NA19186,NA19189,NA19190,NA19207,NA19208,NA19256,NA19258,NA19308,NA19360,NA19371,NA19374,NA19375,NA19384,NA19393,NA19397,NA19430,NA19462,NA19468,NA19835,NA19836,NA19901,NA19909,NA19982,NA20276,NA20279,NA20287,NA20300,NA20340,NA20342,NA20343,NA20344,NA20356,NA20358,NA21295,NA21357,NA21378,NA21391,NA21399,NA21401,NA21402,NA21404,NA21405,NA21417,NA21421,NA21434,NA21454,NA21455,NA21457,NA21473,NA21475,NA21478,NA21480,NA21485,NA21489,NA21521,NA21527,NA21583,NA21613,NA21620,NA21650,NA21689,NA21739,NA21740,NA21826 nsv524381 9 15155032 15192417 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700296 S 2026 1 0 TTC39B nsv521191 9 15208947 15236652 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697836 S 2026 0 1 TTC39B nsv436610 9 15246031 15252575 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466505 S 2 0 1 Samples from several populations that are part of the HapMap project. TTC39B NA18505 nsv892624 9 15273761 15405461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518692 S 6533 1 0 TTC39B SP57921 nsv517975 9 15276446 15524070 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695387 S 2026 0 1 PSIP1,SNAPC3,TTC39B nsv524849 9 15289590 15352057 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700851 S 2026 0 1 TTC39B nsv892625 9 15316251 16054850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542502 S 6533 1 0 C9orf93,PSIP1,SNAPC3 MS15782 esv1627077 9 15355451 15355451 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4020188 S 2 1 0 "" HuRef nsv892626 9 15379610 15684690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599401 S 6533 0 1 C9orf93,PSIP1,SNAPC3 IS41634 esv1011248 9 15383659 15384532 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564773 S 3 0 1 "" HuRef esv1443322 9 15384880 15385196 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299714 S 2 0 1 "" HuRef nsv892627 9 15387969 15899450 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545262 S 6533 1 0 C9orf93,PSIP1,SNAPC3 MS16708 nsv831520 9 15394866 15434447 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447575 S 95 0 1 SNAPC3 esv1113661 9 15397136 15397136 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719624 S 2 1 0 "" HuRef nsv892628 9 15410805 15518290 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586915 S 6533 1 0 PSIP1,SNAPC3 IS37986 nsv892629 9 15506375 15624326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581146 S 6533 0 1 C9orf93 IS35510 dgv8112n71 9 15544960 15684690 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892630,nsv892631 M 6533 0 3 C9orf93 IS31067,IS33507,IS39011 nsv527616 9 15564853 15569744 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704082 S 2026 0 1 C9orf93 esv2752286 9 15568017 15784897 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984931,essv6984930,essv6990045 M 771 0 1 C9orf93 SPC_194 dgv8113n71 9 15580116 15879411 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892633,nsv892632 M 6533 0 2 C9orf93 IS35181,MS13480 esv2344651 9 15592390 15592760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932115 S 1 0 1 C9orf93 NA18507 esv1789194 9 15592582 15592668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821234 S 2 0 1 C9orf93 HuRef dgv927n27 9 15605321 15717518 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466263,nsv466262 M 1557 0 2 C9orf93 HGDP01415,NINDS_42 nsv6485 9 15641852 15673001 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10656 S 9 1 0 C9orf93 NA18956 nsv892634 9 15686501 15736168 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502596 S 6533 0 1 C9orf93 SP51293 esv32957 9 15710059 15727099 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100084 S 51 0 1 C9orf93 22086 nsv892635 9 15721775 15866507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568870 S 6533 0 1 C9orf93 IS31369 nsv528964 9 15750822 15865162 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705661 S 2026 1 0 C9orf93 nsv892636 9 15784858 15866507 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585025 S 6533 0 1 C9orf93 IS37226 nsv6486 9 15795220 15827639 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv792,nssv3706 M 9 0 2 C9orf93 NA12878,NA19240 nsv508536 9 15801619 15824267 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622605,nssv617368 M 4 0 2 C9orf93 CHM,NA18994 esv2554638 9 15804444 15812789 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351862 S 1 0 1 C9orf93 NA18507 esv989500 9 15804800 15815052 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563808 S 3 0 1 C9orf93 HuRef nsv436605 9 15804917 15812062 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466507 S 2 0 1 Samples from several populations that are part of the HapMap project. C9orf93 NA18505 esv1987381 9 15805118 15812093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4541216 S 1 0 1 C9orf93 NA18507 nsv824862 9 15805192 15812312 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426842,nssv1433792,nssv1438979,nssv1440478,nssv1433001,nssv1434230,nssv1441212,nssv1439808,nssv1421869,nssv1434546,nssv1432214,nssv1435237,nssv1422745,nssv1425128,nssv1437586,nssv1427632 M 31 0 16 C9orf93 AK2,AK20,AK6,AK8,NA18526,NA18537,NA18552,NA18564,NA18570,NA18592,NA18942,NA18949,NA18969,NA18972,NA18973,NA18997 nsv511428 9 15805246 15807169 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626039 S 1 1 0 C9orf93 1 nsv821345 9 15805285 15813367 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420800 S 1 0 1 C9orf93 NA10851 nsv824863 9 15805285 15813367 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429965,nssv1430720 M 31 2 0 C9orf93 AK14,AK16 nsv515130 9 15805299 15807182 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628009 S 1414 0 1 C9orf93 esv5520 9 15805299 15811939 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27961 S 1 0 1 C9orf93 SJK nsv499777 9 15805306 15811944 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586107 S 9 0 1 C9orf93 esv25948 9 15805327 15812312 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16959,esv15580 M 451 9 2 C9orf93 NA12156,NA12287,NA15510,NA18502,NA18517,NA18523,NA18858,NA18916,NA19108,NA19129,NA19225 nsv511422 9 15807619 15813667 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626031 S 1 0 1 C9orf93 1 esv268034 9 15821775 15822039 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496881,essv2496357,essv2508992,essv2508719,essv2512990,essv2504525,essv2496067,essv2512900,essv2497951,essv2503519,essv2500722,essv2501282,essv2506567,essv2499655 M 157 14 0 Samples from several populations that are part of the HapMap project. C9orf93 NA18498,NA18510,NA18522,NA18532,NA18547,NA18563,NA18603,NA18609,NA18945,NA18947,NA18973,NA19093,NA19108,NA19225 nsv519593 9 15845317 15851885 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683720,nssv656990 M 2026 0 2 C9orf93 nsv892637 9 15916508 16050746 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545263 S 6533 1 0 C9orf93 MS16708 nsv824865 9 15936654 15937416 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439809,nssv1427633 M 31 0 2 C9orf93 AK8,NA18537 nsv6488 9 15962167 15995792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8587 S 9 1 0 "" NA12156 nsv831521 9 15964174 16096565 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447576 S 95 0 1 "" esv259617 9 15973992 15974292 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394213,essv2393688,essv2394319 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238,NA19240 esv259704 9 15974003 15974297 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399181,essv2397308,essv2397622,essv2396602,essv2400949,essv2399587,essv2394659,essv2397942,essv2397748,essv2394576,essv2398288,essv2395190,essv2396445,essv2397212,essv2395992,essv2400516 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12776,NA12878,NA18502,NA18507,NA18547,NA18570,NA18870,NA18907,NA18956,NA18965,NA19093,NA19108,NA19138,NA19225,NA19238,NA19240 esv273359 9 15979642 15979727 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581087 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv525782 9 16051960 16061439 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701958 S 2026 0 1 "" dgv2291e1 9 16053191 16072467 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv952,essv956 M 271 0 0 "" NA18981 nsv442136 9 16061336 16064727 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv892638 9 16096659 16162580 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542503 S 6533 1 0 "" MS15782 nsv6489 9 16175370 16193744 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2804 S 9 1 0 "" NA18555 nsv892639 9 16180403 16232088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586916 S 6533 1 0 "" IS37986 nsv892640 9 16196695 16250837 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566213 S 6533 0 1 "" IS30610 nsv520183 9 16199181 16201320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693124,nssv661461 M 2026 0 2 "" nsv523890 9 16200610 16201712 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699733 S 2026 0 1 "" nsv892641 9 16208659 16232088 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545264 S 6533 1 0 "" MS16708 nsv892642 9 16223085 16272979 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552195 S 6533 0 1 "" MS19277 nsv6490 9 16264423 16298462 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv793 S 9 1 0 "" NA19240 nsv892643 9 16265107 16296523 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542504 S 6533 1 0 "" MS15782 nsv892644 9 16265107 16379006 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586917 S 6533 1 0 "" IS37986 esv28173 9 16279392 16280247 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12543 S 451 0 2 "" NA18502,NA18505 nsv520831 9 16279428 16280269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676224,nssv682365 M 2026 0 2 "" nsv892645 9 16282669 16358732 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576592 S 6533 0 1 "" IS34141 esv8224 9 16311187 16311245 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30665 S 1 1 0 "" SJK esv2273213 9 16322152 16322606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4556561 S 1 0 1 "" NA18507 esv3309 9 16322215 16322619 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25750 S 1 0 1 Single Asian sample YH "" YH nsv466264 9 16349608 16380629 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541857 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00516 esv2462705 9 16379073 16380515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300547 S 1 0 1 "" NA18507 esv2413865 9 16379207 16379924 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4787099 S 1 0 1 "" NA18507 esv3190 9 16379339 16379867 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25631 S 1 0 1 Single Asian sample YH "" YH dgv261n6 9 16379395 16379743 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv416795,nsv416318 M 24 "" esv1006629 9 16379398 16379731 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584728 S 3 0 1 "" HuRef esv2571946 9 16379404 16379739 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359097 S 1 0 1 "" NA18507 esv9441 9 16379407 16379729 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31882 S 1 0 1 "" SJK esv1622328 9 16379407 16379743 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363970 S 2 0 1 "" HuRef nsv6491 9 16379836 16388649 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8588 S 9 0 1 "" NA12156 nsv524954 9 16422544 16436091 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700975 S 2026 0 1 BNC2 esv272810 9 16433525 16433804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582099,essv2582527,essv2584839 M 7 3 0 Samples from several populations that are part of the HapMap project. BNC2 NA12878,NA12891,NA19239 esv267687 9 16441472 16441720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496749,essv2506912,essv2499676 M 157 3 0 Samples from several populations that are part of the HapMap project. BNC2 NA18498,NA19102,NA19225 dgv262n6 9 16453295 16453601 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv415383,nsv415605 M 24 BNC2 nsv892646 9 16466144 16504375 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521218 S 6533 0 1 BNC2 SP52297 nsv892647 9 16466144 16511534 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586918 S 6533 1 0 BNC2 IS37986 nsv466265 9 16474731 16506941 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541858 S 1557 0 1 BNC2 1780854128_A nsv824866 9 16553830 16555983 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438980 S 31 0 1 BNC2 NA18973 nsv528443 9 16560142 16571967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705038 S 2026 0 1 BNC2 nsv524264 9 16586071 16601692 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700161 S 2026 1 0 BNC2 dgv2292e1 9 16631966 16799203 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv199,essv23625 M 271 0 0 BNC2 NA12006 nsv892648 9 16651092 16670901 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586919 S 6533 1 0 BNC2 IS37986 esv1725129 9 16654843 16654961 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786747 S 2 0 1 BNC2 HuRef nsv892649 9 16667221 16751597 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542505 S 6533 1 0 BNC2 MS15782 esv269036 9 16672271 16672547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495400,essv2508792,essv2500257,essv2502823,essv2496784,essv2510518,essv2494308,essv2509817,essv2496466,essv2501165,essv2506235,essv2498359,essv2508760,essv2500372,essv2503276,essv2512999,essv2494593,essv2497760,essv2499883,essv2507916,essv2506379,essv2500083,essv2507639,essv2508411,essv2510002,essv2496106,essv2501615,essv2512919,essv2498561,essv2507168,essv2513355,essv2507369,essv2511628,essv2503168,essv2497977,essv2503573,essv2505421,essv2503703,essv2500770,essv2505630,essv2501467,essv2504788,essv2507014,essv2499170,essv2493535,essv2498862,essv2497511,essv2510472,essv2499838,essv2512009,essv2498009,essv2502200,essv2495793,essv2503924 M 157 54 0 Samples from several populations that are part of the HapMap project. BNC2 NA07000,NA07037,NA12287,NA12878,NA12891,NA12892,NA18498,NA18501,NA18502,NA18508,NA18510,NA18516,NA18523,NA18526,NA18532,NA18537,NA18542,NA18547,NA18550,NA18555,NA18562,NA18564,NA18566,NA18573,NA18576,NA18582,NA18593,NA18603,NA18608,NA18609,NA18858,NA18870,NA18907,NA18912,NA18940,NA18943,NA18945,NA18947,NA18952,NA18960,NA18973,NA19005,NA19093,NA19099,NA19102,NA19114,NA19137,NA19138,NA19147,NA19172,NA19225,NA19238,NA19240,NA19257 esv273823 9 16672283 16672605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584203,essv2583650 M 7 2 0 Samples from several populations that are part of the HapMap project. BNC2 NA19238,NA19240 nsv892650 9 16686187 16940860 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586920 S 6533 1 0 BNC2 IS37986 nsv510183 9 16702237 16708237 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624077 S 4 0 1 BNC2 NA18994 esv1256705 9 16741613 16741613 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4304555 S 2 1 0 BNC2 HuRef nsv518608 9 16790341 16794082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696055 S 2026 0 1 BNC2 nsv892651 9 16806755 16859240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506863 S 6533 0 1 BNC2 SP54409 nsv892652 9 16833128 16948312 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542506 S 6533 1 0 BNC2 MS15782 esv993349 9 16837394 16837518 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577708 S 3 0 1 BNC2 HuRef esv1359645 9 16837395 16837395 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3811023 S 2 1 0 BNC2 HuRef esv1378850 9 16837395 16837520 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3645479 S 2 0 1 BNC2 HuRef nsv892653 9 16838790 16885610 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575720 S 6533 0 1 BNC2 IS33797 esv23285 9 16872532 16874965 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15846 S 451 0 1 "" NA12044 nsv892654 9 16888603 16931006 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551640 S 6533 1 0 "" MS18959 nsv8421 9 16889923 16894878 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17928,nssv16672,nssv16886 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18564,NA18942,NA19007 nsv466266 9 16893446 16940860 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541859 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01304 nsv471286 9 16893446 16940860 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545833 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01304 dgv2293e1 9 16893850 16908196 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8669,esv1328 M 271 0 0 "" NA19101 esv1318596 9 16897775 16897775 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4315152 S 2 1 0 "" HuRef esv1716327 9 16897942 16897942 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3987334 S 2 1 0 "" HuRef nsv526253 9 16911847 16923037 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702525 S 2026 0 1 "" nsv892655 9 16923037 16976264 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598114 S 6533 0 1 "" IS41340 nsv466267 9 16927552 16972584 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541860 S 1557 0 1 "" 1782681313_A nsv515906 9 16945672 16953863 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692883,nssv665243 M 2026 0 2 "" nsv892656 9 16998137 17066367 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545265 S 6533 1 0 "" MS16708 nsv892657 9 16998137 17213492 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542507 S 6533 1 0 CNTLN MS15782 dgv8114n71 9 17031557 17522840 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892661,nsv892658 M 6533 2 0 CNTLN IS37986,MS14913 esv267408 9 17052500 17052874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503251,essv2504411,essv2502319,essv2502882,essv2495320,essv2503378,essv2507780,essv2493434,essv2495096 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11881,NA11993,NA12004,NA12156,NA12287,NA12716,NA12751,NA12763 esv2556613 9 17108520 17110104 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170097 S 1 0 1 "" NA18507 esv2453207 9 17112413 17113377 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235149 S 1 1 0 "" NA18507 dgv8115n71 9 17120360 17259437 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892659,nsv892660 M 6533 2 0 CNTLN IS33166,MS16708 nsv471287 9 17155698 17698814 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545835,nssv545834 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTLN,SH3GL2 HGDP00617,HGDP00635 nsv466269 9 17155698 17700407 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541861 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTLN,SH3GL2 HGDP00635 nsv892662 9 17158867 17319964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554157 S 6533 0 1 CNTLN MS20630 nsv466270 9 17226376 17367629 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541862 S 1557 0 1 CNTLN 1780862312_A nsv892663 9 17233746 17319964 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598272 S 6533 0 1 CNTLN IS41317 nsv892664 9 17240170 17286630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573282,nssv1588625,nssv1577587,nssv1588536,nssv1564077 M 6533 0 5 CNTLN IS30160,IS33261,IS34491,IS38211,IS38224 nsv892665 9 17240170 17361690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580551 S 6533 0 1 CNTLN IS35378 nsv892666 9 17246043 17270616 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515093 S 6533 0 1 CNTLN SP56120 esv27469 9 17250551 17252869 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13106 S 451 0 1 CNTLN NA19129 nsv892667 9 17259437 17286630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559730 S 6533 0 1 CNTLN MS24103 esv268392 9 17264232 17264526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510604,essv2494700,essv2500998 M 157 3 0 Samples from several populations that are part of the HapMap project. CNTLN NA18501,NA18519,NA18856 nsv416983 9 17267063 17267288 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435561 M 24 CNTLN nsv510184 9 17296332 17302332 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622173 S 4 0 1 CNTLN NA10860 nsv892668 9 17361690 17522840 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1548912 S 6533 0 1 CNTLN MS17911 nsv892669 9 17368776 17428391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578755 S 6533 0 1 CNTLN IS34896 nsv892670 9 17368776 17497277 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545267 S 6533 1 0 CNTLN MS16708 nsv892671 9 17368776 17600211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542508 S 6533 1 0 CNTLN,SH3GL2 MS15782 nsv466273 9 17381531 17426662 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541864 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CNTLN HGDP00005 nsv523411 9 17384536 17444799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699162 S 2026 1 0 CNTLN esv2422265 9 17386711 17588187 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161298 S 181 1 0 CNTLN,SH3GL2 ND03903 esv27473 9 17391160 17396972 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19349 S 451 0 3 CNTLN NA18858,NA18907,NA18916 nsv526787 9 17426801 17430278 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703139 S 2026 0 1 CNTLN nsv522698 9 17477945 17478111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706109 S 2026 0 1 CNTLN nsv416405 9 17544261 17544261 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434983 M 24 "" nsv517380 9 17554267 17623232 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651859,nssv672798,nssv675357,nssv692769,nssv701429,nssv692590,nssv666605,nssv656453 M 2026 7 1 SH3GL2 nsv892672 9 17554267 17624566 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593527 S 6533 1 0 SH3GL2 IS39428 esv26279 9 17571146 17624284 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13454 S 451 1 0 SH3GL2 NA12287 dgv928n27 9 17573310 17623232 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466277,nsv466275 M 1557 2 0 SH3GL2 1780862003_A,NINDS_200 nsv892673 9 17581830 17614902 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586922 S 6533 1 0 SH3GL2 IS37986 esv2752287 9 17583258 17622543 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985926,essv6985927 M 771 1 0 SH3GL2 SPC_85 nsv892674 9 17621186 17689981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542509 S 6533 1 0 SH3GL2 MS15782 nsv892675 9 17684823 17780526 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586923 S 6533 1 0 SH3GL2 IS37986 esv272492 9 17685595 17685837 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579002 S 7 1 0 Samples from several populations that are part of the HapMap project. SH3GL2 NA19239 esv272367 9 17689795 17690205 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579232,essv2579797 M 7 2 0 Samples from several populations that are part of the HapMap project. SH3GL2 NA19239,NA19240 nsv466279 9 17689981 17716581 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541867 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SH3GL2 HGDP00602 esv269109 9 17690014 17690150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494331,essv2494772,essv2494873,essv2497270,essv2513023,essv2494572,essv2497794,essv2506404,essv2511352,essv2500699,essv2494444,essv2508196,essv2508642,essv2501551,essv2503089,essv2499776,essv2501772,essv2498160 M 157 18 0 Samples from several populations that are part of the HapMap project. SH3GL2 NA18502,NA18519,NA18520,NA18545,NA18547,NA18550,NA18555,NA18566,NA18570,NA18571,NA18572,NA18579,NA18592,NA18608,NA18943,NA19225,NA19239,NA19240 nsv510185 9 17727782 17733782 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618308 S 4 0 1 SH3GL2 CHM esv1357911 9 17728542 17728542 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182211 S 2 1 0 SH3GL2 HuRef esv29156 9 17754515 17755573 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16404 S 451 1 0 SH3GL2 NA12156 nsv824867 9 17800486 17818870 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440479 S 31 0 1 "" NA18564 nsv8422 9 17800758 17819560 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17958 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18564 dgv2294e1 9 17801584 17818437 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1174,essv4307 M 271 0 0 "" NA18564 nsv6492 9 17826353 17854938 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5152 S 9 1 0 "" NA19129 esv269388 9 17864406 17864745 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565644,essv2540870,essv2571654,essv2546463,essv2526023,essv2543911,essv2571057,essv2556703,essv2550808,essv2553988,essv2520369,essv2564415,essv2553516,essv2576327,essv2520261,essv2564023,essv2555038,essv2530592,essv2561969,essv2557521,essv2557207,essv2561634,essv2523840,essv2524546,essv2549491,essv2543331,essv2529535,essv2572800,essv2568496,essv2551357,essv2548808,essv2533029,essv2524951 M 157 33 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07357,NA11829,NA11831,NA11840,NA11881,NA11918,NA11992,NA11993,NA11994,NA12155,NA12287,NA12716,NA12751,NA12763,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA18499,NA18501,NA18523,NA18537,NA18555,NA18564,NA18965,NA19093,NA19143,NA19147,NA19257 nsv508538 9 17877411 17910964 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620021,nssv622606 M 4 0 2 "" NA15510,NA18994 esv997014 9 17898251 17905447 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563910 S 3 0 1 "" HuRef nsv512090 9 17898440 17903767 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624646 S 1 0 1 "" 1 nsv499351 9 17899417 17902880 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586108 S 9 0 1 "" esv1563005 9 17899518 17902883 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3887668 S 2 0 1 "" HuRef nsv821204 9 17900030 17901782 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420801 S 1 0 1 "" NA10851 nsv824868 9 17900030 17901782 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425912,nssv1433793,nssv1433002,nssv1435996,nssv1429966,nssv1426843,nssv1428102,nssv1430721,nssv1441213,nssv1432215,nssv1421870,nssv1435238,nssv1441451,nssv1436810,nssv1438981,nssv1434241,nssv1431465,nssv1434547,nssv1429220,nssv1438288,nssv1424361,nssv1427785,nssv1425129,nssv1423569,nssv1422746,nssv1428454,nssv1437587,nssv1427634 M 31 0 28 "" AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18526,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997,NA18999 esv22136 9 17900038 17901633 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17410 S 451 23 0 "" NA11993,NA11995,NA12156,NA12287,NA12828,NA12878,NA18502,NA18505,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 dgv35n14 9 17900043 17901466 CNV Loss Cooper et al 2008 18776910 SNP_array nsv433502,nsv433501 M 9 0 2 "" NA15510,NA18956 esv2421994 9 17900043 17901466 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5129603,essv5093393,essv5061907,essv5009854,essv5003079,essv5119069,essv5072170,essv5146624,essv5116971,essv5107078,essv5033504,essv5125491,essv5142630,essv5050485,essv5091006,essv5159437,essv5130050,essv5019571,essv5011878,essv5120510,essv5079895,essv5029757,essv5053127,essv5130410,essv5144971,essv5070727,essv5092907,essv5135897,essv5027328,essv5091946,essv5145981,essv5009335,essv5118869,essv5050144,essv5016309,essv5046330,essv5023609,essv5125660,essv5083133,essv5051896,essv5130406,essv5066155,essv5158506,essv5085035,essv5146113,essv5103350,essv5125505,essv5154628,essv5139665,essv5100320,essv5116391,essv5053766,essv5025439,essv5017443,essv5070767,essv5107555,essv5103292,essv5032509,essv5032545,essv5025784,essv5035015,essv5077215,essv5107384,essv5128008,essv5156348,essv5082958,essv5078901,essv5125389,essv5074094,essv5015306,essv5014040,essv5022140,essv5018254,essv5003393,essv5139052,essv5116520,essv5155054,essv5060472,essv5076086,essv5058301,essv5067184,essv5003601,essv5134703,essv5057312,essv5134408,essv5044145,essv5141991,essv5098763,essv5138161,essv5121501,essv5108920,essv5065890,essv5064127,essv5073478,essv5113673,essv5064737,essv5037132,essv5103199,essv5093422,essv5043453,essv5141502,essv5010657,essv5142156,essv5086062,essv5070542,essv5133605,essv5027513,essv5064999,essv5099528,essv5125217,essv5104041,essv5069810,essv5075703,essv5144340,essv5015268,essv5159546,essv5071682,essv5102176,essv5074604,essv5132161,essv5092894,essv5032946,essv5025309,essv5096064,essv5149341,essv5084564,essv5071122,essv5153557,essv5041925,essv5104463,essv5123085,essv5027681,essv5150048,essv5120244,essv5065823,essv5039565,essv5089678,essv5041478,essv5080955,essv5025189,essv5080608,essv5077257,essv5076914,essv5128342,essv5022563,essv5050033,essv5104718,essv5150794,essv5108214,essv5099840,essv5039219,essv5081280,essv5085529,essv5085737,essv5099143,essv5035254,essv5157204,essv5090552,essv5087218,essv5081507,essv5076942,essv5018210,essv5074328,essv5011217,essv5030901,essv5071568,essv5003658,essv5136648,essv5019945,essv5098550,essv5110038,essv5139861,essv5029582,essv5059227,essv5044579,essv5135782,essv5102318,essv5155834,essv5130409,essv5100806,essv5081571,essv5088797,essv5054887,essv5132441,essv5028122,essv5062754,essv5123925,essv5128407,essv5010048,essv5151083,essv5139486,essv5054477,essv5063798,essv5151260,essv5007210,essv5013755,essv5095323,essv5108856,essv5040287,essv5114000,essv5073111,essv5017657,essv5031306,essv5040459,essv5030573,essv5126276,essv5102865,essv5132274,essv5086533,essv5025978,essv5094031,essv5019975,essv5018215,essv5045421,essv5038829,essv5134569,essv5146786,essv5132353,essv5150960,essv5044060,essv5019649,essv5080457,essv5093334,essv5073055,essv5068868,essv5148952,essv5088366,essv5036816,essv5112991,essv5065635,essv5113700,essv5128835,essv5143092,essv5156068,essv5123974,essv5154555,essv5048666,essv5097759,essv5084593,essv5052441,essv5134258,essv5116494,essv5155683,essv5044908,essv5067188,essv5148367,essv5135315,essv5101432,essv5048920,essv5018955,essv5025828,essv5023718,essv5153354,essv5113982,essv5085887,essv5124649,essv5033381,essv5132234,essv5092395,essv5087072,essv5139805,essv5093464,essv5087564,essv5087003,essv5002104,essv5051475,essv5036040,essv5044051,essv5010832,essv5035517,essv5105456,essv5140851,essv5152830,essv5151888,essv5083249,essv5125102,essv5096666,essv5111808,essv5137574,essv5055790,essv5122506,essv5066802,essv5105520,essv5040364,essv5136239,essv5102387,essv5028999,essv5096207,essv5008229,essv5092216,essv5051624,essv5116655,essv5085232,essv5152665,essv5085701,essv5064855,essv5123105,essv5145363,essv5012898,essv5046955,essv5002794,essv5153861,essv5100141,essv5105460,essv5110683,essv5023745,essv5109378,essv5075973,essv5081739,essv5023168,essv5036852,essv5152885,essv5051544,essv5147385,essv5021536,essv5130251,essv5054175,essv5049596,essv5128199,essv5102505,essv5115425,essv5036078,essv5148861,essv5065922,essv5026253,essv5023254,essv5151092,essv5010742,essv5078922,essv5036247,essv5106533,essv5068952,essv5126501,essv5055191,essv5137506,essv5154827,essv5149666,essv5005170,essv5065050,essv5123707,essv5068622,essv5117274,essv5081457,essv5119990,essv5075309,essv5140168,essv5058362,essv5155374,essv5055321,essv5010016,essv5098679,essv5066107,essv5029883,essv5011337,essv5014942,essv5151574,essv5010265,essv5014215,essv5014902,essv5094399,essv5079421,essv5096170,essv5015421,essv5094489,essv5089954,essv5106801,essv5104992,essv5051320,essv5100104,essv5141002,essv5146438,essv5125884,essv5095077,essv5059470,essv5075915,essv5133902,essv5060094,essv5017307,essv5014261,essv5149999,essv5116794,essv5154758,essv5082254,essv5118721,essv5014970,essv5053329,essv5026994,essv5004458,essv5119409,essv5006062,essv5028215,essv5153965,essv5022523,essv5156772,essv5098138,essv5020084,essv5031665,essv5061059,essv5029158,essv5085221,essv5105365,essv5062717,essv5114943,essv5095555,essv5101671,essv5152533,essv5035690,essv5029862,essv5021143,essv5112707,essv5027125,essv5064533,essv5103052,essv5138720,essv5063300,essv5155294,essv5159767,essv5150309,essv5144251,essv5097252,essv5015108,essv5148300,essv5094671,essv5092175,essv5097791,essv5055418,essv5124539,essv5157845,essv5137154,essv5146458,essv5031237,essv5147991,essv5158640,essv5154603,essv5073421,essv5126163,essv5058715,essv5077866,essv5085047,essv5071577,essv5104395,essv5102493,essv5083071,essv5013236,essv5062284,essv5149910,essv5134525,essv5055627,essv5004576,essv5120336,essv5128019,essv5081331,essv5060671,essv5098866,essv5138032,essv5068941,essv5038047,essv5070647,essv5012973,essv5126424,essv5075619,essv5038558,essv5097360,essv5010668,essv5126487,essv5032719,essv5096183,essv5158332,essv5032590,essv5062627,essv5051580,essv5071344,essv5128738,essv5149161,essv5007263,essv5160893,essv5123207,essv5033552,essv5115251,essv5068494,essv5107004,essv5100529,essv5002912,essv5114982,essv5047905,essv5105164,essv5070115,essv5117631,essv5013424,essv5149020,essv5084646,essv5029137,essv5048744,essv5002458,essv5018168,essv5046889,essv5140318,essv5105717,essv5152823,essv5088285,essv5136208,essv5134806,essv5051517,essv5131112,essv5038984,essv5034499,essv5089645,essv5029764,essv5095625,essv5120422,essv5105777,essv5024268,essv5059916,essv5027739,essv5031676,essv5141204,essv5087350,essv5058553,essv5078440,essv5070760,essv5074372,essv5139653,essv5036231,essv5149262,essv5145302,essv5084049,essv5056115,essv5014701,essv5086371,essv5055546,essv5015657,essv5027737,essv5114142,essv5134364,essv5147042,essv5084665,essv5137328,essv5073089,essv5152453,essv5017945,essv5022345,essv5032877,essv5074861,essv5017249,essv5100326,essv5098354,essv5016195,essv5131453,essv5095140,essv5036102,essv5023320,essv5117568,essv5081622,essv5103181,essv5154279,essv5051630,essv5036005,essv5037059,essv5159657,essv5082133,essv5002162,essv5050976,essv5120733,essv5098587,essv5033387,essv5073130,essv5074523,essv5090895,essv5150299,essv5010991,essv5116649,essv5090440,essv5094480,essv5160347,essv5066378,essv5128938,essv5137407,essv5024760,essv5055670,essv5038680,essv5090705,essv5016186,essv5069070,essv5097096,essv5014439,essv5052505,essv5122279,essv5131765,essv5146765,essv5067153,essv5136358,essv5137067,essv5114891,essv5107097,essv5115323,essv5052956,essv5014679,essv5033266,essv5149618,essv5026612,essv5127004,essv5054492,essv5006113,essv5088843,essv5108948,essv5103244,essv5117340,essv5107425,essv5111579,essv5114334,essv5160739,essv5020436,essv5003741,essv5037426,essv5105582,essv5029480,essv5056848,essv5080454,essv5111472,essv5127543,essv5058485,essv5101209,essv5150498,essv5019218,essv5072177,essv5080718,essv5042633,essv5138946,essv5111439,essv5017881,essv5148855,essv5025554,essv5117390,essv5145244,essv5139290,essv5078997,essv5160209,essv5060769,essv5028218,essv5041947,essv5083308,essv5155653,essv5031702,essv5128694,essv5088959,essv5117409,essv5026343,essv5007365,essv5160288,essv5054192,essv5048565,essv5085748,essv5099280,essv5020503,essv5022730,essv5107469,essv5078335,essv5152192,essv5119015,essv5106259,essv5113821,essv5112519,essv5098367,essv5003949,essv5087954,essv5030517,essv5074602,essv5039638,essv5070944,essv5090954,essv5048378,essv5118519,essv5041697,essv5092342,essv5062850,essv5144166,essv5028646,essv5040029,essv5159793,essv5157252,essv5136497,essv5047579,essv5133263,essv5063865,essv5097873,essv5115393,essv5046126,essv5085786,essv5026761,essv5140400,essv5107349,essv5010546,essv5105371,essv5126045,essv5074779,essv5060125,essv5063217,essv5147329,essv5156924,essv5015455,essv5082518,essv5103591,essv5073024,essv5025418,essv5097950,essv5037037,essv5016684,essv5064659,essv5102615,essv5019000,essv5052846,essv5071693,essv5132021,essv5027707,essv5046803,essv5099231,essv5050319,essv5093251,essv5045073,essv5127815,essv5094294,essv5009125,essv5039786,essv5018120,essv5046393,essv5030947,essv5014364,essv5107666,essv5012025,essv5125170,essv5081723,essv5160512,essv5040138,essv5065599,essv5049048,essv5158507,essv5047216,essv5081795,essv5048130,essv5114856,essv5130822,essv5015402,essv5103885,essv5151601,essv5133286,essv5049578,essv5125687,essv5150903,essv5157694,essv5033866,essv5096507,essv5130433,essv5122395,essv5089909,essv5055756,essv5053800,essv5045158,essv5060709,essv5077769,essv5139241,essv5136209,essv5106977,essv5058908,essv5107148,essv5015938,essv5079875,essv5075143,essv5088926,essv5122883,essv5109720,essv5007762,essv5158114,essv5032074,essv5038532,essv5146737,essv5090624,essv5036118,essv5054090,essv5091975,essv5153364,essv5154038,essv5131148,essv5037252,essv5037386,essv5082437,essv5023925,essv5054989,essv5068921,essv5153794,essv5055522,essv5015905,essv5061366,essv5010071,essv5080817,essv5138289,essv5039256,essv5091644,essv5095187,essv5155353,essv5069494,essv5075336,essv5147980,essv5160926,essv5039037,essv5051750,essv5122527,essv5087165,essv5041394,essv5059893,essv5126947,essv5146390,essv5127085,essv5128582,essv5017472,essv5159650,essv5136441,essv5138776,essv5013450,essv5043876,essv5153285,essv5090010,essv5054372,essv5122564,essv5150514,essv5134516,essv5037528,essv5090740,essv5052520,essv5106360,essv5144219,essv5039177,essv5116839,essv5143084,essv5075824,essv5129568,essv5141422,essv5010823,essv5062958,essv5059428,essv5098289,essv5113606,essv5157901,essv5086053,essv5047193,essv5123587,essv5003963,essv5024677,essv5049021,essv5026039,essv5124304,essv5151286,essv5159273,essv5014273,essv5040136,essv5113413,essv5030786,essv5054041,essv5108973,essv5081510,essv5089303,essv5142541,essv5058856,essv5090198,essv5017412,essv5110062,essv5156877,essv5149867,essv5083376,essv5161015,essv5005067,essv5032625,essv5065116,essv5039558,essv5038051,essv5084374,essv5104934,essv5098873,essv5047690,essv5030649,essv5088117,essv5018877,essv5143141,essv5007526,essv5017579,essv5058983,essv5077090,essv5079403,essv5154013,essv5116680,essv5056649,essv5048725,essv5022060,essv5144370,essv5119998,essv5129634,essv5067675,essv5092377,essv5072485,essv5016680,essv5012716,essv5119264,essv5138735,essv5159840,essv5110387,essv5145362,essv5139910,essv5022965,essv5048866,essv5096291,essv5142697,essv5092716,essv5113281,essv5055336,essv5008928,essv5148974,essv5038313,essv5092855,essv5021200,essv5160398,essv5035725,essv5088222,essv5082226,essv5012537,essv5044072,essv5103367,essv5010717,essv5049694,essv5134054,essv5080026,essv5136196,essv5053685,essv5154446,essv5126292,essv5035526,essv5077300,essv5131575,essv5049759,essv5056842,essv5136283,essv5136206,essv5068256,essv5128454,essv5091589,essv5046109,essv5016855,essv5142902,essv5072354,essv5157119,essv5151982,essv5084275,essv5027587,essv5104200,essv5156740,essv5132231,essv5082276,essv5098046,essv5128436,essv5136651,essv5132088,essv5018550,essv5100588,essv5134404,essv5136437,essv5125993,essv5147783,essv5141917,essv5104021 M 1184 0 967 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07029,NA07031,NA07037,NA07045,NA07051,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10855,NA10856,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11891,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12718,NA12739,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12766,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12829,NA12830,NA12832,NA12842,NA12843,NA12865,NA12872,NA12873,NA12874,NA12875,NA12878,NA12889,NA12890,NA12891,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18114,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18127,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18148,NA18149,NA18150,NA18151,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18162,NA18166,NA18485,NA18486,NA18487,NA18497,NA18498,NA18501,NA18505,NA18506,NA18508,NA18510,NA18511,NA18515,NA18517,NA18519,NA18524,NA18526,NA18529,NA18532,NA18534,NA18536,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18645,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18852,NA18854,NA18858,NA18860,NA18861,NA18862,NA18863,NA18868,NA18869,NA18870,NA18873,NA18875,NA18909,NA18911,NA18912,NA18914,NA18917,NA18924,NA18925,NA18930,NA18933,NA18935,NA18939,NA18940,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19009,NA19010,NA19031,NA19036,NA19046,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19087,NA19093,NA19094,NA19095,NA19097,NA19098,NA19101,NA19103,NA19108,NA19118,NA19130,NA19132,NA19138,NA19141,NA19142,NA19143,NA19144,NA19146,NA19148,NA19149,NA19153,NA19159,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19178,NA19179,NA19180,NA19181,NA19183,NA19184,NA19190,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19207,NA19208,NA19210,NA19211,NA19214,NA19215,NA19221,NA19222,NA19225,NA19226,NA19235,NA19238,NA19239,NA19247,NA19249,NA19256,NA19308,NA19310,NA19311,NA19313,NA19314,NA19316,NA19318,NA19321,NA19328,NA19346,NA19350,NA19373,NA19374,NA19375,NA19376,NA19379,NA19381,NA19383,NA19384,NA19391,NA19398,NA19403,NA19428,NA19430,NA19431,NA19434,NA19435,NA19436,NA19440,NA19443,NA19444,NA19445,NA19446,NA19452,NA19455,NA19457,NA19466,NA19467,NA19470,NA19471,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19658,NA19659,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19703,NA19704,NA19705,NA19714,NA19716,NA19718,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19746,NA19747,NA19748,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19796,NA19818,NA19819,NA19828,NA19835,NA19901,NA19904,NA19908,NA19909,NA19916,NA19917,NA19918,NA19921,NA19985,NA20127,NA20128,NA20276,NA20279,NA20281,NA20282,NA20284,NA20288,NA20289,NA20290,NA20292,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20335,NA20340,NA20341,NA20343,NA20344,NA20345,NA20346,NA20347,NA20350,NA20356,NA20358,NA20360,NA20363,NA20502,NA20504,NA20505,NA20506,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20521,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20828,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20875,NA20876,NA20877,NA20879,NA20881,NA20882,NA20883,NA20885,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20906,NA20907,NA20908,NA20909,NA20910,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21123,NA21125,NA21137,NA21141,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21312,NA21313,NA21317,NA21318,NA21333,NA21336,NA21344,NA21355,NA21357,NA21359,NA21360,NA21361,NA21363,NA21364,NA21366,NA21368,NA21370,NA21371,NA21378,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21404,NA21408,NA21414,NA21415,NA21417,NA21418,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21438,NA21439,NA21441,NA21447,NA21448,NA21453,NA21455,NA21457,NA21473,NA21475,NA21476,NA21477,NA21479,NA21480,NA21485,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21509,NA21510,NA21513,NA21514,NA21520,NA21522,NA21523,NA21524,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21577,NA21578,NA21580,NA21583,NA21587,NA21596,NA21597,NA21611,NA21613,NA21614,NA21617,NA21619,NA21631,NA21632,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21693,NA21722,NA21723,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21825 nsv515131 9 17900228 17901608 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628010 S 1414 0 1 "" nsv824869 9 17900577 17901782 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439810,nssv1440480 M 31 0 2 "" NA18537,NA18564 dgv8116n71 9 17901466 17992205 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892676,nsv892677 M 6533 3 0 "" IS37986,MS15782,MS16708 nsv436914 9 17917606 17935461 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466508 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv518330 9 17955723 18007562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695760 S 2026 0 1 "" esv2752288 9 17955723 18026892 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982067,essv6982066 M 771 0 1 "" BEC_516 nsv892678 9 18023944 18072567 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586436 S 6533 0 1 "" IS37789 nsv466280 9 18023944 18156112 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541868 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00290 nsv471288 9 18023944 18156112 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545836 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00290 dgv8117n71 9 18034802 18257185 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892679,nsv892680 M 6533 2 0 "" IS37986,MS16708 nsv824870 9 18035760 18038729 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427796 S 31 0 1 "" NA18968 nsv515739 9 18072704 18079614 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664641,nssv658368,nssv655648 M 2026 0 3 "" nsv6493 9 18099813 18119772 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8589 S 9 1 0 "" NA12156 nsv892681 9 18117068 18240459 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542511 S 6533 1 0 "" MS15782 nsv892682 9 18156112 18262700 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523300 S 6533 0 1 "" SP53933 nsv520180 9 18177403 18183796 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697266 S 2026 0 1 "" nsv892683 9 18191083 18216609 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574209 S 6533 0 1 "" IS33530 nsv831522 9 18221982 18449492 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447577 S 95 0 1 "" nsv892684 9 18251485 18391585 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586926 S 6533 1 0 "" IS37986 nsv892685 9 18263100 18292439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542512 S 6533 1 0 "" MS15782 nsv892686 9 18263100 18318341 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545270 S 6533 1 0 "" MS16708 esv5306 9 18276531 18276828 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27747 S 1 0 1 Single Asian sample YH "" YH esv1006485 9 18276560 18276738 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584335 S 3 0 1 "" HuRef nsv525659 9 18278212 18999041 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701814 S 2026 1 0 ADAMTSL1,FAM154A,MIR3152 nsv892687 9 18293691 18420297 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553971,nssv1545894,nssv1539470 M 6533 0 3 "" MS14336,MS17028,MS20468 nsv525743 9 18302578 18349014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701909 S 2026 0 1 "" nsv6494 9 18313276 18343982 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10657 S 9 1 0 "" NA18956 nsv518001 9 18373380 18398771 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695413 S 2026 0 1 "" nsv892688 9 18375143 18541247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542513 S 6533 1 0 ADAMTSL1 MS15782 esv1922147 9 18386795 18387259 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571244 S 1 0 1 "" NA18507 nsv416588 9 18390145 18390145 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435166 M 24 "" esv268042 9 18436902 18437061 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510661,essv2507096,essv2509358,essv2498694 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18870,NA18909,NA19138 nsv892689 9 18475434 18527444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600932 S 6533 0 1 ADAMTSL1 IS41948 nsv892690 9 18475434 18582374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545271 S 6533 1 0 ADAMTSL1,MIR3152 MS16708 esv1006882 9 18498833 18499591 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565804 S 3 0 1 ADAMTSL1 HuRef esv995985 9 18498892 18499229 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575444 S 3 0 1 ADAMTSL1 HuRef nsv892691 9 18509699 18795483 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586927 S 6533 1 0 ADAMTSL1,MIR3152 IS37986 nsv892692 9 18509699 19035502 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577464 S 6533 1 0 ADAMTSL1,FAM154A,MIR3152 IS34458 nsv6495 9 18519849 18553942 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2805 S 9 1 0 ADAMTSL1 NA18555 nsv509296 9 18530461 18555708 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623556 S 4 1 0 ADAMTSL1 NA18994 nsv892693 9 18531710 18574860 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556624 S 6533 0 1 ADAMTSL1,MIR3152 MS22104 esv2430566 9 18564479 18565902 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306016 S 1 0 1 ADAMTSL1 NA18507 nsv416839 9 18568658 18569517 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435417 M 24 ADAMTSL1 nsv6496 9 18576934 18599801 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8590 S 9 0 1 ADAMTSL1 NA12156 nsv831523 9 18582398 18743451 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447578 S 95 0 1 ADAMTSL1 nsv519362 9 18588470 18589029 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696811 S 2026 0 1 ADAMTSL1 nsv892694 9 18589029 18757830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545272 S 6533 1 0 ADAMTSL1 MS16708 nsv824871 9 18591501 18591968 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421871 S 31 0 1 ADAMTSL1 NA18997 nsv892695 9 18621044 18670771 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542514 S 6533 1 0 ADAMTSL1 MS15782 nsv892696 9 18643773 18653543 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588210,nssv1599402 M 6533 0 2 ADAMTSL1 IS38176,IS41634 nsv892697 9 18690566 18757830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586635 S 6533 1 0 ADAMTSL1 IS37889 esv2611468 9 18741125 18742438 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305940 S 1 0 1 ADAMTSL1 NA18507 esv1945859 9 18741642 18742320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4511396 S 1 0 1 ADAMTSL1 NA18507 esv4320 9 18741781 18742174 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26761 S 1 0 1 Single Asian sample YH ADAMTSL1 YH nsv415467 9 18741827 18742116 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434045 M 24 ADAMTSL1 esv998276 9 18741836 18742125 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578127 S 3 0 1 ADAMTSL1 HuRef esv1386680 9 18741842 18742132 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659719 S 2 0 1 ADAMTSL1 HuRef esv9523 9 18741843 18742128 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31964 S 1 0 1 ADAMTSL1 SJK nsv525887 9 18768319 18781355 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702089 S 2026 0 1 ADAMTSL1 esv2262298 9 18815505 18815937 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4754191 S 1 0 1 ADAMTSL1 NA18507 nsv892698 9 18820444 18895289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545273 S 6533 1 0 ADAMTSL1 MS16708 nsv466282 9 18910357 18950393 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541869 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM154A HGDP01414 nsv471289 9 18910357 18950393 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545837 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM154A HGDP01414 nsv519384 9 18914136 18921061 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689027,nssv655768 M 2026 0 2 FAM154A nsv510186 9 18917876 18923876 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622174,nssv618309,nssv621355,nssv624078 M 4 0 4 FAM154A CHM,NA10860,NA15510,NA18994 nsv526254 9 18921061 18924303 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702526 S 2026 0 1 FAM154A esv2342287 9 18931825 18932289 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4939632 S 1 0 1 FAM154A NA18507 esv2437751 9 18932026 18932107 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5268704 S 1 0 1 FAM154A NA18507 nsv892699 9 18935868 19015693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586928 S 6533 1 0 FAM154A IS37986 nsv892700 9 18969441 19146784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542515 S 6533 1 0 FAM154A,HAUS6,PLIN2,RRAGA,SCARNA8 MS15782 nsv892701 9 18989837 19022907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541571 S 6533 0 1 FAM154A MS15375 nsv510187 9 19012309 19018309 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618310 S 4 0 1 FAM154A CHM nsv519909 9 19017880 19023376 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659447,nssv663408 M 2026 0 2 FAM154A esv1298160 9 19112577 19112641 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3711496 S 2 0 1 PLIN2 HuRef nsv8423 9 19115975 19118690 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17853,nssv16390,nssv17475,nssv20714 M 31 4 0 Samples from several populations that are part of the HapMap project. PLIN2 NA07048,NA12802,NA18517,NA18537 dgv2295e1 9 19116476 19151145 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1219,essv515 M 271 0 0 PLIN2 NA18952 nsv892702 9 19116565 19288581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545274 S 6533 1 0 DENND4C,PLIN2 MS16708 nsv466285 9 19123732 19163783 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541872 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00319 nsv818691 9 19134191 19146784 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417421 S 112 0 1 "" NA18952 nsv526715 9 19135435 19199546 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703055 S 2026 0 1 "" nsv524062 9 19146784 19163783 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699928 S 2026 0 1 "" esv28580 9 19263398 19264277 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15400 S 451 0 1 "" NA18502 esv2302206 9 19268885 19269423 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4597735 S 1 0 1 "" NA18507 esv1745994 9 19269054 19269304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144679 S 2 0 1 "" HuRef esv1060561 9 19269502 19269502 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145625 S 2 1 0 "" HuRef nsv466286 9 19271099 19506863 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541873 S 1557 1 0 ACER2,DENND4C,RPS6,SLC24A2 1780854295_A esv24621 9 19348477 19349692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17910 S 451 0 1 DENND4C NA19108 nsv824872 9 19363885 19364361 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434252 S 31 0 1 DENND4C NA18592 esv2434325 9 19382027 19383552 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367846 S 1 0 1 "" NA18507 esv1361979 9 19418000 19418049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209759 S 2 0 1 ACER2 HuRef nsv416048 9 19418024 19418078 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434626 M 24 ACER2 nsv524474 9 19420331 19573437 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700412 S 2026 1 0 ACER2,SLC24A2 nsv831524 9 19430354 19612084 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447580,nssv1447579 M 95 1 1 ACER2,SLC24A2 esv2787 9 19463864 19464089 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25228 S 1 0 1 Single Asian sample YH "" YH esv1518739 9 19463957 19464032 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3983718 S 2 0 1 "" HuRef nsv415862 9 19537518 19538285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434440 M 24 SLC24A2 esv22657 9 19537521 19538233 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15236 S 451 0 1 SLC24A2 NA18502 esv2333274 9 19553493 19554020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4584216 S 1 0 1 SLC24A2 NA18507 nsv892703 9 19560345 19590840 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545275 S 6533 1 0 SLC24A2 MS16708 esv34141 9 19560509 19570745 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SLC24A2 dgv8118n71 9 19562704 19660094 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892705,nsv892704 M 6533 2 0 SLC24A2 IS37986,MS15782 nsv892706 9 19598329 19642099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592970 S 6533 0 1 SLC24A2 IS39326 nsv892707 9 19647975 19660094 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520224 S 6533 1 0 SLC24A2 SP50755 nsv892708 9 19648379 19678388 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569018 S 6533 0 1 SLC24A2 IS31396 nsv507508 9 19657929 19663929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620445,nssv621939,nssv623070 M 4 3 0 SLC24A2 NA10860,NA15510,NA18994 esv2559680 9 19661226 19664271 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181974 S 1 0 1 SLC24A2 NA18507 nsv512091 9 19661578 19663541 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624647 S 1 0 1 SLC24A2 1 esv2000234 9 19661587 19663651 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674212 S 1 0 1 SLC24A2 NA18507 esv25330 9 19661928 19663142 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14643 S 451 0 1 SLC24A2 NA18523 nsv511417 9 19662012 19668269 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626026 S 1 0 1 SLC24A2 1 nsv892709 9 19761890 19816404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545276 S 6533 1 0 SLC24A2 MS16708 nsv892710 9 19761890 20014550 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542517 S 6533 1 0 SLC24A2 MS15782 nsv466288 9 19791918 19859438 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541874 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00972 nsv892711 9 19832235 19894103 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586930 S 6533 1 0 "" IS37986 dgv481n21 9 19858092 20011047 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523164,nsv524659 M 2026 2 0 "" esv26112 9 19878822 19879291 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15241 S 451 1 0 "" NA19190 nsv466289 9 19904829 19933585 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541875 S 1557 0 1 "" NINDS_125 nsv437644 9 19930143 19933585 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467525 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA18506 esv33124 9 19959839 19960262 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98654 S 51 0 1 "" 21606 nsv892712 9 19996704 20020553 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545277 S 6533 1 0 "" MS16708 nsv6497 9 20030399 20075273 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8591 S 9 0 1 "" NA12156 nsv892713 9 20048939 20099447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581642 S 6533 0 1 "" IS35675 nsv892714 9 20048939 20193727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513232 S 6533 0 1 "" SP55698 nsv526645 9 20073046 20087230 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702971 S 2026 0 1 "" nsv892715 9 20076856 20121581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545278 S 6533 1 0 "" MS16708 nsv892716 9 20085103 20149208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542518 S 6533 1 0 "" MS15782 nsv892717 9 20193727 20269793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541590 S 6533 0 1 "" MS15383 esv21825 9 20202052 20203471 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10432 S 451 0 1 "" NA19108 esv997999 9 20215560 20215560 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573704 S 3 1 0 "" HuRef esv1686670 9 20215569 20215569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242556 S 2 1 0 "" HuRef nsv528196 9 20271246 20272519 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704755 S 2026 0 1 "" nsv892718 9 20273265 20298956 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551492 S 6533 0 1 "" MS18910 nsv892719 9 20277948 20313424 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545279 S 6533 1 0 "" MS16708 nsv521193 9 20321681 20327131 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689693,nssv684291,nssv686213 M 2026 0 3 "" esv2564686 9 20331465 20332949 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282174 S 1 0 1 "" NA18507 nsv466290 9 20498503 20538238 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541876 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MLLT3 HGDP00806 esv269887 9 20554327 20554438 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503342,essv2497234,essv2499893,essv2500069,essv2509954,essv2512854,essv2507510,essv2500495,essv2503684,essv2495158 M 157 10 0 Samples from several populations that are part of the HapMap project. MLLT3 NA18542,NA18552,NA18562,NA18573,NA18593,NA18609,NA18638,NA18956,NA18960,NA18964 dgv8119n71 9 20562934 20753513 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892721,nsv892720 M 6533 2 0 KIAA1797,MIR491,MLLT3 MS15782,MS16708 nsv892722 9 20577397 20631181 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586931 S 6533 1 0 MLLT3 IS37986 nsv521488 9 20621633 20639911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698099 S 2026 0 1 "" esv1005935 9 20628602 20632024 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565744 S 3 1 0 "" HuRef nsv892723 9 20661512 20729123 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583965 S 6533 0 1 KIAA1797,MIR491 IS36752 nsv892724 9 20680244 21507302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595290 S 6533 1 0 IFNA1,IFNA10,IFNA13,IFNA14,IFNA16,IFNA17,IFNA2,IFNA21,IFNA22P,IFNA4,IFNA5,IFNA6,IFNA7,IFNA8,IFNB1,IFNE,IFNW1,KIAA1797,KLHL9,MIR31,MIR31HG,MIR491,PTPLAD2 IS40222 nsv892725 9 20716571 20836444 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504356 S 6533 0 1 KIAA1797 SP52439 nsv892726 9 20740387 20763526 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526355 S 6533 0 1 KIAA1797 SP57181 nsv824873 9 20743513 20756960 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421872 S 31 0 1 KIAA1797 NA18997 dgv2296e1 9 20746547 20753840 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1564,esv1240 M 271 0 0 KIAA1797 NA18997 nsv510188 9 20749928 20755928 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624079,nssv618311 M 4 0 2 KIAA1797 CHM,NA18994 nsv437645 9 20752473 20756254 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467526 S 60 0 1 Samples from several populations that are part of the HapMap project. KIAA1797 NA19194 dgv8120n71 9 20754870 21023557 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892729,nsv892728,nsv892727 M 6533 3 0 KIAA1797,PTPLAD2 IS37986,MS15782,MS16708 nsv824874 9 20791026 20794593 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426844,nssv1430722,nssv1441214,nssv1427635 M 31 0 4 KIAA1797 AK16,AK6,AK8,NA18969 nsv516765 9 20791595 20793597 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670701,nssv690584 M 2026 0 2 KIAA1797 esv2421522 9 20791595 20794674 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132306,essv5097900,essv5061018,essv5019189,essv5068801,essv5076957,essv5109082,essv5106060,essv5035324,essv5126730,essv5104103,essv5054094,essv5136256,essv5141812 M 1184 0 14 KIAA1797 NA17996,NA18101,NA18105,NA18140,NA18161,NA18532,NA18596,NA18621,NA18642,NA18945,NA18960,NA18969,NA19062,NA19081 nsv442137 9 20791650 20794674 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIAA1797 nsv524000 9 20801421 20807348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699860 S 2026 0 1 KIAA1797 nsv466291 9 20807348 20887266 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541877 S 1557 0 1 KIAA1797 NINDS_145 nsv6499 9 20817623 20849652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6265 S 9 1 0 KIAA1797 NA12156 nsv466292 9 20822095 20922868 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541878 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KIAA1797 HGDP01021 nsv892730 9 20824837 20930932 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561784,nssv1526858 M 6533 2 0 KIAA1797 MS25223,SP57886 nsv507509 9 20833045 20839045 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623071,nssv620446,nssv617789 M 4 3 0 KIAA1797 CHM,NA15510,NA18994 nsv527232 9 20866513 20873241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703632 S 2026 0 1 KIAA1797 nsv523258 9 20887266 20892081 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698990 S 2026 0 1 KIAA1797 nsv524984 9 20950170 20953374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701013 S 2026 0 1 KIAA1797 nsv518943 9 20950170 20978666 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696410 S 2026 0 1 KIAA1797 esv1962655 9 20963679 20964105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4889369 S 1 0 1 KIAA1797 NA18507 esv1761789 9 20963769 20964345 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353904 S 2 0 1 KIAA1797 HuRef nsv892731 9 20972328 21016540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506864 S 6533 0 1 KIAA1797,PTPLAD2 SP54409 nsv466294 9 21027771 21072814 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541879 S 1557 0 1 IFNB1 1798860565_A esv2584734 9 21028086 21029025 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346886 S 1 1 0 "" NA18507 nsv892732 9 21044806 21079434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504334 S 6533 0 1 IFNB1 SP52432 nsv892733 9 21072814 21143985 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586933 S 6533 1 0 IFNW1 IS37986 nsv892734 9 21098817 21313089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545282 S 6533 1 0 IFNA10,IFNA14,IFNA16,IFNA17,IFNA21,IFNA22P,IFNA4,IFNA5,IFNA7,IFNW1 MS16708 esv2595922 9 21099176 21100029 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5197717 S 1 1 0 "" NA18507 esv272191 9 21099495 21099817 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580317,essv2579253,essv2579703 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA19239,NA19240 esv270768 9 21099505 21099840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576052,essv2571731,essv2546346,essv2526290,essv2536735,essv2522939,essv2544092,essv2556587,essv2545673,essv2577347,essv2548218,essv2550761,essv2550489,essv2535263,essv2544228,essv2520309,essv2547160,essv2558295,essv2564679,essv2577958,essv2559413,essv2565330,essv2576462,essv2561859,essv2528193,essv2557052,essv2532432,essv2569376,essv2550173,essv2536906,essv2527193,essv2561397,essv2523689,essv2552828,essv2541189,essv2538204,essv2543001,essv2540593,essv2524660,essv2565043,essv2534563,essv2539662,essv2549583,essv2522270,essv2567670,essv2528818,essv2570046,essv2553366,essv2559357,essv2566836,essv2541974,essv2556449,essv2528135,essv2574055,essv2556127,essv2534474,essv2573627,essv2525764,essv2526844,essv2575013,essv2538843,essv2526424,essv2568640,essv2545225,essv2560338,essv2549776,essv2546011,essv2574365,essv2551404,essv2537810,essv2548688,essv2524892 M 157 72 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07357,NA11830,NA11840,NA11881,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12043,NA12045,NA12155,NA12234,NA12249,NA12414,NA12716,NA12717,NA12750,NA12751,NA12761,NA12776,NA12812,NA12814,NA12874,NA12891,NA18501,NA18505,NA18508,NA18511,NA18517,NA18522,NA18523,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18571,NA18577,NA18579,NA18593,NA18605,NA18638,NA18853,NA18856,NA18871,NA18907,NA18951,NA18956,NA18959,NA18964,NA18980,NA19005,NA19102,NA19108,NA19114,NA19147,NA19172,NA19190,NA19225,NA19239,NA19240,NA19257 esv1005887 9 21099522 21099522 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567114 S 3 1 0 "" HuRef nsv466296 9 21112681 21120177 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541881 S 1557 0 1 "" 1782681262_A esv271888 9 21135712 21136076 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504785,essv2506896,essv2499036,essv2493570 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA19099,NA19102,NA19114,NA19137 nsv892735 9 21147373 21232161 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573274 S 6533 0 1 IFNA10,IFNA14,IFNA16,IFNA17,IFNA21,IFNA4,IFNA7 IS33258 dgv2297e1 9 21171454 21186515 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1087,essv6086 M 271 0 0 IFNA4 NA18621 nsv438096 9 21180827 21189680 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470073 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19131 nsv516132 9 21181463 21196427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675288,nssv671884,nssv657402,nssv681239,nssv662974,nssv688805,nssv681632,nssv687311,nssv666408,nssv660703,nssv671732,nssv659408,nssv677116,nssv662871,nssv660007,nssv693713,nssv691662,nssv690488 M 2026 0 18 IFNA10,IFNA7 nsv8425 9 21185026 21196846 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20037,nssv17434 M 31 1 1 Samples from several populations that are part of the HapMap project. IFNA10,IFNA7 NA10839,NA19132 esv6326 9 21185360 21203919 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28767 S 1 0 1 IFNA10,IFNA7 SJK esv270800 9 21251923 21252245 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576058,essv2540701,essv2521059,essv2536539,essv2523035,essv2544140,essv2570756,essv2548446,essv2521688,essv2550276,essv2544410,essv2547285,essv2558670,essv2563999,essv2555075,essv2537246,essv2528403,essv2578667,essv2550144,essv2543444,essv2538546,essv2571286,essv2545752,essv2554792,essv2558030 M 157 25 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10851,NA11830,NA11831,NA11894,NA11920,NA11931,NA11992,NA12044,NA12045,NA12144,NA12234,NA12414,NA12717,NA12750,NA12828,NA12872,NA12878,NA12891,NA18510,NA18511,NA18870,NA19108,NA19238,NA19239 esv273192 9 21251927 21252249 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584041,essv2584617,essv2583822 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 dgv2298e1 9 21271544 21293689 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1226,essv8697,essv13495 M 271 0 0 "" NA18912,NA18914 nsv438097 9 21275389 21296318 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470080,nssv470077,nssv470081,nssv470082,nssv470078,nssv470079,nssv470076 M 269 0 3 Samples from several populations that are part of the HapMap project. IFNA5 NA18912,NA18914,NA19208 nsv892736 9 21317141 21381698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542521 S 6533 1 0 IFNA13,IFNA2,IFNA6,KLHL9 MS15782 nsv892737 9 21342862 21398824 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585581 S 6533 0 1 IFNA13,IFNA2 IS37550 esv2752289 9 21351957 21489624 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988542,essv6986186 M 771 1 0 IFNA1,IFNA13,IFNA2,IFNA8,IFNE,MIR31HG BEC_451 nsv892738 9 21361264 21403085 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545283 S 6533 1 0 IFNA2,IFNA8 MS16708 nsv466297 9 21381698 21497589 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541882 S 1557 1 0 IFNA1,IFNA8,IFNE,MIR31HG 1780854081_A nsv892739 9 21397250 21460520 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586934 S 6533 1 0 IFNA1,IFNA8,MIR31HG IS37986 nsv892740 9 21461499 21541513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545284 S 6533 1 0 IFNE,MIR31,MIR31HG MS16708 nsv525510 9 21471556 21474695 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701643 S 2026 1 0 IFNE,MIR31HG dgv2299e1 9 21489624 21516526 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1339,essv6800 M 271 0 0 MIR31,MIR31HG NA18594 nsv892741 9 21507302 21541513 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542522 S 6533 1 0 MIR31HG MS15782 nsv892742 9 21579041 21697372 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586935 S 6533 1 0 "" IS37986 nsv824876 9 21582356 21584024 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422747 S 31 0 1 "" NA18552 nsv6500 9 21624401 21653726 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8593 S 9 0 1 "" NA12156 nsv892743 9 21665545 21762064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542523 S 6533 1 0 "" MS15782 nsv471290 9 21684038 21711939 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545838 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00890 nsv892744 9 21684039 21736419 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534147,nssv1568445 M 6533 0 2 "" IS31285,MS11467 esv269542 9 21689207 21689453 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504023 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv510189 9 21706999 21712999 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618312 S 4 0 1 "" CHM esv26974 9 21724362 21724837 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11917 S 451 0 1 "" NA18916 esv993733 9 21728960 21728960 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567306 S 3 1 0 "" HuRef nsv416172 9 21728962 21728962 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434750 M 24 "" nsv8426 9 21753810 22166200 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19602 S 31 0 1 Samples from several populations that are part of the HapMap project. C9orf53,CDKN2A,CDKN2B,CDKN2B-AS1,MTAP NA18502 esv270131 9 21761160 21761550 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500970,essv2507230,essv2497104 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA18870,NA19190 esv33626 9 21817421 21818357 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99542 S 51 0 1 MTAP 22335 nsv892745 9 21847244 21996273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545285 S 6533 1 0 C9orf53,CDKN2A,CDKN2B,CDKN2B-AS1,MTAP MS16708 esv2600308 9 21907412 21908927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193219 S 1 0 1 "" NA18507 esv2334547 9 21907877 21908571 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4913889 S 1 0 1 "" NA18507 nsv892746 9 21943137 22018801 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530631 S 6533 0 1 C9orf53,CDKN2A,CDKN2B,CDKN2B-AS1 MS10311 esv1425040 9 21971091 21971161 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3804836 S 2 0 1 CDKN2A HuRef nsv892747 9 21974661 22058646 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586936 S 6533 1 0 CDKN2A,CDKN2B,CDKN2B-AS1 IS37986 nsv824877 9 21995194 21995666 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432216 S 31 0 1 CDKN2B,CDKN2B-AS1 AK20 nsv892748 9 21995647 22001642 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508117 S 6533 0 1 CDKN2B,CDKN2B-AS1 SP54684 esv1998859 9 22047807 22048179 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905235 S 1 0 1 CDKN2B-AS1 NA18507 nsv416308 9 22047961 22048037 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434886 M 24 CDKN2B-AS1 esv1002544 9 22050685 22051057 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563592 S 3 1 0 CDKN2B-AS1 HuRef esv2589724 9 22082819 22086595 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346131 S 1 0 1 CDKN2B-AS1 NA18507 nsv892749 9 22115913 22234280 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542524 S 6533 1 0 "" MS15782 esv268321 9 22278690 22279020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558045,essv2575792,essv2571690,essv2546376,essv2521436,essv2526061,essv2542556,essv2536510,essv2522820,essv2544197,essv2571041,essv2556708,essv2568156,essv2545688,essv2523456,essv2531888,essv2577278,essv2570423,essv2521836,essv2576600,essv2550688,essv2525512,essv2550284,essv2535023,essv2554093,essv2544407,essv2520460,essv2547617,essv2529164,essv2558389,essv2564518,essv2577687,essv2553537,essv2559549,essv2565331,essv2576275,essv2563989,essv2555076,essv2562006,essv2537252,essv2528315,essv2547103,essv2520838,essv2557361,essv2552604,essv2562759,essv2578665,essv2537119,essv2538933,essv2527187,essv2561724,essv2544793,essv2562909,essv2523783,essv2553099,essv2541190,essv2538373,essv2542890,essv2540359,essv2524594,essv2564986,essv2534502,essv2561229,essv2539792,essv2549448,essv2519676,essv2560110,essv2522186,essv2566057,essv2530963,essv2532612,essv2567939,essv2528978,essv2567634,essv2541871,essv2569877,essv2563896,essv2553329,essv2535705,essv2572320,essv2542091,essv2550949,essv2528170,essv2578263,essv2573243,essv2555427,essv2533446,essv2555748,essv2567005,essv2566493,essv2529880,essv2527637,essv2557658,essv2555952,essv2534289,essv2522507,essv2543068,essv2573293,essv2577052,essv2571965,essv2525648,essv2575515,essv2575299,essv2526573,essv2523979,essv2560853,essv2530312,essv2560228,essv2549827,essv2571248,essv2574326,essv2536245,essv2538072,essv2548680,essv2533396,essv2554372,essv2547811,essv2525094,essv2563158 M 157 119 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11830,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11931,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12287,NA12414,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12776,NA12812,NA12814,NA12828,NA12872,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18502,NA18507,NA18510,NA18517,NA18519,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18856,NA18858,NA18907,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18965,NA18969,NA18970,NA18973,NA18980,NA19099,NA19102,NA19114,NA19129,NA19137,NA19141,NA19190,NA19225,NA19238,NA19240 esv273656 9 22278690 22279020 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581693,essv2582685,essv2583076,essv2584285,essv2583763 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 nsv892750 9 22373816 22486640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586937 S 6533 1 0 DMRTA1 IS37986 esv269939 9 22385684 22386022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516790,essv2518587,essv2514296,essv2517612,essv2518315 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12287,NA12874,NA12878,NA19240 esv273240 9 22385684 22386022 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581324 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv6501 9 22444234 22477340 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8594 S 9 1 0 "" NA12156 dgv8121n71 9 22445892 22498807 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892753,nsv892752,nsv892751,nsv892754,nsv892756 M 6533 0 6 "" IS32891,IS34440,IS34830,IS40657,IS41862,MS21195 dgv8122n71 9 22445892 22508195 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892755,nsv892757 M 6533 0 2 "" IS41874,MS23257 nsv416673 9 22454892 22458766 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435251 M 24 "" nsv510949 9 22476315 22515291 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621610,nssv618601 M 4 0 0 "" CHM,NA15510 esv24263 9 22476721 22492830 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9798,esv19897 M 451 21 7 "" NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12239,NA12287,NA12749,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv6502 9 22477566 22508348 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6266,nssv3707 M 9 0 2 "" NA12156,NA12878 nsv820107 9 22479914 22496027 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418657 S 2 1 0 "" AK1 dgv191e180 9 22486382 22492823 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989509,esv994688 M 3 1 0 "" HuRef nsv824878 9 22486382 22492823 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441215,nssv1433794,nssv1434263 M 31 1 2 "" NA18526,NA18592,NA18969 nsv820641 9 22486382 22492830 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420803 S 1 0 1 "" NA10851 nsv824879 9 22486382 22492830 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441462,nssv1427636 M 31 0 2 "" AK8,NA18547 nsv499758 9 22486527 22494345 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586109 S 9 0 1 "" esv33878 9 22486611 22492632 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98769,essv97603,essv100760,essv100995,essv98196,essv94134,essv101276,essv96950,essv95609,essv94529,essv92992,essv96207,essv98540,essv92651,essv99545 M 51 7 8 "" 21606,21616,21656,21693,21772,21802,21805,21817,21841,21932,21939,22007,22085,22233,22335 nsv515133 9 22486640 22492682 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628011 S 1414 0 1 "" esv2421603 9 22486640 22492851 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5112013,essv5092881,essv5040830,essv5161132,essv5078243,essv5107111,essv5006857,essv5095551,essv5142133,essv5157932,essv5077804,essv5032431,essv5114196,essv5138820,essv5043251,essv5095889,essv5104742,essv5027654,essv5061047,essv5063207,essv5021956,essv5118582,essv5100565,essv5116269,essv5157078,essv5043430,essv5023687,essv5112452,essv5014157,essv5053681,essv5033337,essv5131228,essv5122568,essv5156968,essv5158934,essv5093911,essv5051512,essv5093684,essv5065197,essv5078514,essv5089869,essv5043579,essv5037811,essv5103641,essv5139696,essv5160609,essv5086572,essv5052965,essv5013906,essv5027232,essv5126526,essv5065448,essv5073021,essv5150308,essv5082584,essv5060421,essv5142353,essv5039894,essv5090590,essv5028673,essv5017166,essv5127990,essv5015259,essv5059832,essv5141900,essv5096117,essv5084549,essv5042412,essv5104417,essv5022268,essv5054107,essv5004740,essv5096890,essv5069516,essv5056716,essv5053361,essv5032470,essv5091681,essv5088972,essv5135410,essv5036177,essv5065322,essv5097286,essv5059584,essv5112245,essv5032019,essv5070116,essv5064361,essv5124143,essv5128880,essv5147601,essv5149187,essv5111171,essv5084051,essv5049501,essv5109620,essv5040852,essv5151616,essv5008094,essv5004201,essv5023883,essv5023143,essv5004459,essv5023933,essv5004178,essv5048275,essv5138525,essv5083731,essv5050003,essv5013174,essv5012380,essv5145350,essv5060867,essv5101934,essv5158798,essv5107087,essv5104157,essv5038218,essv5151113,essv5022211,essv5087824,essv5092161,essv5075047,essv5111389,essv5045631,essv5038518,essv5091120,essv5067113,essv5087890,essv5016739,essv5055267,essv5081951,essv5129576,essv5063633,essv5142407,essv5054747,essv5066129,essv5013125,essv5156639,essv5015481,essv5050718,essv5091742,essv5087782,essv5150260,essv5126751,essv5008704,essv5140843,essv5104869,essv5041183,essv5104355,essv5059775,essv5040410,essv5106734,essv5159929,essv5004369,essv5031384,essv5152900,essv5090609,essv5095346,essv5077383,essv5003218,essv5022748,essv5130999,essv5014627,essv5108284,essv5101617,essv5035424,essv5011891,essv5083252,essv5149658,essv5125350,essv5092878,essv5146921,essv5085235,essv5141942,essv5058542,essv5004112,essv5141565,essv5038786,essv5089075,essv5026713,essv5020022,essv5032365,essv5085111,essv5046252,essv5013258,essv5150771,essv5129003,essv5002492,essv5052635,essv5074938,essv5115519,essv5126096,essv5126173,essv5075852,essv5055764,essv5039811,essv5143740,essv5005746,essv5054447,essv5067704,essv5026312,essv5064756,essv5031175,essv5126974,essv5142769,essv5121403,essv5133290,essv5133002,essv5011360,essv5044196,essv5129839,essv5147060,essv5036374,essv5150856,essv5044318,essv5067982,essv5021473,essv5007429,essv5124101,essv5114004,essv5058415,essv5092559,essv5077839,essv5127111,essv5124228,essv5039385,essv5147489,essv5022357,essv5057340,essv5096626,essv5099704,essv5122281,essv5043456,essv5002782,essv5123117,essv5128749,essv5072473,essv5132005,essv5092025,essv5119348,essv5086247,essv5075278,essv5105939,essv5020456,essv5054565,essv5039587,essv5062005,essv5109597,essv5048893,essv5084182,essv5136596,essv5051819,essv5156086,essv5158262,essv5099689,essv5151171,essv5045285,essv5010124,essv5031700,essv5145917,essv5090701,essv5097279,essv5043677,essv5090651,essv5007125,essv5016868,essv5019532,essv5068034,essv5053281,essv5128958,essv5139136,essv5038321,essv5114807,essv5002176,essv5148595,essv5042420,essv5151400,essv5155365,essv5008487,essv5078959,essv5133847,essv5107676,essv5051935,essv5030867,essv5115341,essv5021282,essv5111687,essv5101221,essv5086430,essv5109651,essv5076691,essv5048982,essv5105996,essv5043408,essv5078282,essv5133116,essv5012050,essv5095326,essv5071850,essv5123070,essv5011595,essv5059630,essv5028602,essv5093808,essv5072878,essv5025173,essv5130491,essv5055325,essv5154968,essv5068800,essv5022967,essv5134535,essv5098392,essv5009252,essv5148897 M 1184 0 316 "" NA06984,NA06985,NA06986,NA06991,NA06995,NA06997,NA07022,NA07031,NA07037,NA07045,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA07357,NA10830,NA10831,NA10835,NA10836,NA10838,NA10839,NA10840,NA10845,NA10846,NA10847,NA10850,NA10852,NA10854,NA10855,NA10861,NA10863,NA10864,NA10865,NA11830,NA11832,NA11839,NA11840,NA11891,NA11893,NA11894,NA11917,NA11918,NA11919,NA11930,NA11993,NA11994,NA11995,NA12003,NA12005,NA12006,NA12043,NA12045,NA12057,NA12145,NA12146,NA12156,NA12248,NA12249,NA12264,NA12275,NA12282,NA12283,NA12286,NA12287,NA12344,NA12347,NA12348,NA12375,NA12376,NA12386,NA12399,NA12413,NA12489,NA12546,NA12707,NA12716,NA12739,NA12740,NA12748,NA12750,NA12751,NA12752,NA12760,NA12761,NA12762,NA12766,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12813,NA12814,NA12817,NA12818,NA12828,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12875,NA12878,NA12891,NA12892,NA17965,NA17977,NA17983,NA18107,NA18112,NA18114,NA18125,NA18129,NA18132,NA18141,NA18143,NA18150,NA18157,NA18162,NA18511,NA18534,NA18543,NA18545,NA18550,NA18559,NA18571,NA18579,NA18593,NA18611,NA18616,NA18617,NA18618,NA18620,NA18855,NA18916,NA18930,NA18946,NA18961,NA18967,NA18974,NA18979,NA19005,NA19028,NA19065,NA19076,NA19080,NA19086,NA19175,NA19189,NA19191,NA19210,NA19211,NA19308,NA19360,NA19373,NA19429,NA19436,NA19463,NA19466,NA19651,NA19652,NA19654,NA19660,NA19661,NA19662,NA19664,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19685,NA19686,NA19703,NA19716,NA19718,NA19726,NA19727,NA19759,NA19760,NA19773,NA19775,NA19777,NA19780,NA19917,NA20126,NA20128,NA20281,NA20284,NA20291,NA20292,NA20295,NA20333,NA20348,NA20505,NA20508,NA20509,NA20516,NA20518,NA20520,NA20524,NA20525,NA20528,NA20530,NA20531,NA20534,NA20538,NA20539,NA20541,NA20542,NA20581,NA20582,NA20586,NA20589,NA20752,NA20754,NA20756,NA20759,NA20760,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20775,NA20778,NA20785,NA20786,NA20792,NA20797,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20810,NA20812,NA20816,NA20826,NA20853,NA20854,NA20859,NA20872,NA20873,NA20881,NA20882,NA20883,NA20884,NA20885,NA20889,NA20891,NA20892,NA20894,NA20895,NA20897,NA20899,NA20906,NA20907,NA21086,NA21088,NA21092,NA21098,NA21100,NA21101,NA21103,NA21105,NA21106,NA21108,NA21111,NA21112,NA21113,NA21115,NA21116,NA21117,NA21125,NA21141,NA21143,NA21144,NA21311,NA21320,NA21353,NA21355,NA21356,NA21357,NA21364,NA21365,NA21366,NA21368,NA21382,NA21403,NA21404,NA21441,NA21476,NA21477,NA21486,NA21521,NA21523,NA21524,NA21525,NA21576,NA21768 nsv433503 9 22486640 22492851 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463384 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA12878 nsv892758 9 22492851 22586808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586938 S 6533 1 0 "" IS37986 nsv892759 9 22492851 22695094 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599737 S 6533 0 1 FLJ35282 IS41782 nsv466298 9 22503927 22552121 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541883 S 1557 0 1 "" 1780862599_A nsv416956 9 22534001 22537731 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435534 M 24 "" esv259669 9 22543905 22544330 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394103,essv2393833,essv2393646,essv2394016,essv2394293 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv259904 9 22543912 22544378 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398616,essv2396774,essv2396093,essv2394779,essv2400328,essv2397548,essv2400918,essv2396036,essv2396776,essv2398668,essv2400742,essv2397976,essv2399594,essv2398276,essv2399169,essv2397327,essv2396945,essv2395092,essv2395261,essv2395654,essv2397663,essv2397807,essv2399212,essv2400632,essv2398564,essv2396466,essv2397445,essv2399350,essv2396143,essv2396621,essv2395707,essv2396050,essv2394940,essv2398408,essv2396308,essv2395530,essv2400868,essv2397429,essv2399581,essv2395072,essv2397166,essv2399848,essv2400600,essv2397874,essv2396871,essv2398798,essv2400408,essv2395545,essv2398958,essv2400172,essv2399145,essv2395752,essv2399935,essv2399478,essv2400122,essv2394637,essv2398449,essv2397909,essv2398201,essv2400006,essv2394429,essv2395866,essv2395448,essv2398157,essv2400791,essv2394529,essv2400382,essv2399652,essv2398378,essv2399307,essv2395223,essv2396355,essv2398025,essv2398715,essv2397237,essv2395988,essv2397057,essv2400474,essv2394512 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA07357,NA11881,NA11992,NA11993,NA12003,NA12249,NA12489,NA12717,NA12751,NA12761,NA12763,NA12776,NA12878,NA12892,NA18486,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18516,NA18517,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18545,NA18552,NA18558,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18943,NA18945,NA18948,NA18949,NA18952,NA18959,NA18960,NA18964,NA19093,NA19102,NA19108,NA19138,NA19147,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv892760 9 22552121 22755106 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542525 S 6533 1 0 FLJ35282 MS15782 esv2553148 9 22586878 22588201 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379022 S 1 0 1 "" NA18507 esv2119257 9 22587241 22587938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649193 S 1 0 1 "" NA18507 esv2611273 9 22587427 22587741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245982 S 1 0 1 "" NA18507 nsv519091 9 22596575 22645723 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696564 S 2026 0 1 FLJ35282 dgv8123n71 9 22615342 22680588 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892761,nsv892762 M 6533 0 2 FLJ35282 IS30635,SP55100 esv34240 9 22618700 22685593 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988160,essv6979359 M 771 0 1 FLJ35282 NA18532 dgv2300e1 9 22618931 22686345 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7520,esv967 M 271 0 0 FLJ35282 NA18532 nsv892763 9 22631633 22755106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583268,nssv1600601 M 6533 0 2 FLJ35282 IS36383,IS41903 esv5075 9 22643356 22643942 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27516 S 1 0 1 Single Asian sample YH FLJ35282 YH nsv824880 9 22643367 22643821 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425913 S 31 1 0 FLJ35282 AK4 nsv511407 9 22654277 22657225 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626015 S 1 0 1 FLJ35282 1 esv2591956 9 22655683 22657524 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234792 S 1 0 1 FLJ35282 NA18507 nsv512092 9 22655753 22657447 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624648 S 1 0 1 FLJ35282 1 esv2142565 9 22656249 22657103 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503514 S 1 0 1 FLJ35282 NA18507 nsv824881 9 22656319 22656935 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425914,nssv1435239,nssv1438289,nssv1424362,nssv1437588,nssv1425131 M 31 6 0 FLJ35282 AK2,AK4,NA18582,NA18942,NA18949,NA18951 nsv820957 9 22656319 22657211 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420804 S 1 0 1 FLJ35282 NA10851 nsv824882 9 22656319 22657211 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438982,nssv1434274,nssv1434548 M 31 0 3 FLJ35282 NA18570,NA18592,NA18973 esv29499 9 22656435 22656902 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14540 S 451 3 0 FLJ35282 NA12414,NA18508,NA19190 nsv8427 9 22658170 22661247 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20031 S 31 0 1 Samples from several populations that are part of the HapMap project. FLJ35282 NA18860 nsv892764 9 22670915 22745025 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532732,nssv1555342,nssv1542353 M 6533 0 3 FLJ35282 MS10820,MS15765,MS21283 nsv892765 9 22695094 22837961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563666,nssv1537526 M 6533 0 2 FLJ35282 MS13240,MS26151 nsv892766 9 22732136 22755106 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569550,nssv1546177 M 6533 0 2 FLJ35282 IS31617,MS17114 nsv892767 9 22771709 22924249 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586939 S 6533 1 0 FLJ35282 IS37986 nsv892768 9 22785727 22868914 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556747 S 6533 0 1 FLJ35282 MS22146 esv1322106 9 22893938 22893938 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344049 S 2 1 0 "" HuRef nsv525354 9 22907331 22915116 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701473 S 2026 0 1 "" dgv8124n71 9 22910664 22978063 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892770,nsv892769 M 6533 2 0 "" MS15782,MS16708 nsv892771 9 22924375 22956660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568957 S 6533 0 1 "" IS31373 nsv892772 9 22929455 22977003 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563006 S 6533 0 1 "" MS25814 nsv525901 9 22935119 22939246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702105 S 2026 0 1 "" nsv528983 9 22937998 22939246 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705682 S 2026 0 1 "" nsv824883 9 22981688 22982224 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426845,nssv1435240,nssv1441473 M 31 0 3 "" AK6,NA18547,NA18942 esv2512409 9 22989069 22990608 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5187179 S 1 0 1 "" NA18507 esv2287751 9 22989298 22990025 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4560699 S 1 0 1 "" NA18507 esv5096 9 22989428 22989957 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27537 S 1 0 1 Single Asian sample YH "" YH esv1003168 9 22989492 22989823 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571153 S 3 0 1 "" HuRef esv2645009 9 22989494 22989825 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284360 S 1 0 1 "" NA18507 esv1533043 9 22989503 22989835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275546 S 2 0 1 "" HuRef nsv415372 9 22989504 22989835 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433950 M 24 "" esv6402 9 22989506 22989826 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28843 S 1 0 1 "" SJK nsv433258 9 22998119 23056126 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463139 S 9 0 1 "" NA15510 nsv892773 9 23032805 23068402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536536,nssv1572942 M 6533 0 2 "" IS33196,MS12827 nsv892774 9 23057870 23120500 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565810 S 6533 0 1 "" IS30522 nsv471291 9 23062095 23111911 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545839 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01061 nsv521195 9 23063969 23107288 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700519,nssv692503,nssv684328,nssv691411,nssv705327,nssv693990 M 2026 3 3 "" esv2458471 9 23064835 23066685 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323333 S 1 0 1 "" NA18507 esv1980712 9 23064938 23065622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4944285 S 1 0 1 "" NA18507 esv5311 9 23065067 23065487 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27752 S 1 0 1 Single Asian sample YH "" YH esv1001293 9 23065115 23065430 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566521 S 3 0 1 "" HuRef esv9383 9 23065123 23065455 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31824 S 1 0 1 "" SJK nsv892775 9 23068402 23201154 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586940 S 6533 1 0 "" IS37986 esv7011 9 23105005 23105326 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29452 S 1 0 1 "" SJK dgv8125n71 9 23111911 23161045 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892776,nsv892777 M 6533 0 5 "" IS35492,IS37639,IS41819,MS21124,MS23257 nsv892778 9 23111911 23209125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581409 S 6533 0 1 "" IS35572 nsv515509 9 23117310 23120500 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691256,nssv653379,nssv688510,nssv687760 M 2026 0 4 "" esv9642 9 23118305 23118362 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32083 S 1 1 0 "" SJK nsv525257 9 23144239 23151189 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701356 S 2026 1 0 "" dgv482n21 9 23144239 23153808 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527457,nsv528435 M 2026 0 2 "" dgv929n27 9 23161516 23176453 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466300,nsv466301 M 1557 0 2 "" 1782681169_A,HGDP00019 nsv892779 9 23163122 23209125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584546 S 6533 0 1 "" IS37064 nsv892780 9 23163122 23244622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542527,nssv1572747 M 6533 2 0 "" IS33166,MS15782 dgv8126n71 9 23163752 23267704 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892781,nsv892783 M 6533 0 2 "" MS15479,SP53041 nsv892782 9 23168368 23232643 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555304 S 6533 0 1 "" MS21258 nsv892784 9 23188470 23273342 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1560198 S 6533 1 0 "" MS24365 nsv6503 9 23189511 23218543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3708 S 9 1 0 "" NA12878 nsv892785 9 23201154 23287808 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561884 S 6533 0 1 "" MS25280 nsv415586 9 23235291 23235291 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434164 M 24 "" esv2582648 9 23318023 23319474 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5190912 S 1 0 1 "" NA18507 esv2014501 9 23318493 23319224 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808304 S 1 0 1 "" NA18507 nsv892786 9 23328357 23415710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545287 S 6533 1 0 "" MS16708 nsv508539 9 23330135 23365839 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622607,nssv620022 M 4 0 2 "" NA15510,NA18994 nsv510580 9 23330135 23390731 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618602 S 4 0 0 "" CHM nsv6504 9 23337187 23395339 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9760,nssv3709,nssv6267 M 9 0 3 "" NA12156,NA12878,NA18507 esv2618596 9 23350176 23368842 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320734 S 1 0 1 "" NA18507 nsv436614 9 23351883 23367695 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466509 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 dgv192e180 9 23352335 23368264 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989360,esv996191 M 3 0 1 "" HuRef esv2549244 9 23352432 23368629 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217174 S 1 0 1 "" NA18507 nsv512093 9 23352484 23367776 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624649 S 1 0 1 "" 1 dgv1213n67 9 23352547 23367715 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824890,nsv824889,nsv824887,nsv824885,nsv824888,nsv824884 M 31 0 25 "" AK10,AK14,AK16,AK18,AK2,AK4,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18997 esv2102787 9 23352623 23367852 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4901148 S 1 0 1 "" NA18507 esv2972 9 23352768 23367763 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25413 S 1 0 1 Single Asian sample YH "" YH nsv433504 9 23352799 23361855 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463385 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 esv2422095 9 23352799 23363484 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5032044,essv5143349,essv5061686,essv5006013,essv5079391,essv5097294,essv5151061,essv5048786,essv5077524,essv5057506,essv5129085,essv5153249,essv5058850,essv5027503,essv5059056,essv5016467,essv5091817,essv5030922,essv5005944,essv5033904,essv5081660,essv5111696,essv5018480,essv5116170,essv5038672,essv5151453,essv5153179,essv5061063,essv5100225,essv5039967,essv5144191,essv5018635,essv5143509,essv5010544,essv5027035,essv5006246,essv5146735,essv5038752,essv5078096,essv5090367,essv5004830,essv5005024,essv5141552,essv5108056,essv5003940,essv5036335,essv5018618,essv5043945,essv5099192,essv5157646,essv5115976,essv5052276,essv5034055,essv5007140,essv5042517,essv5054141,essv5137020,essv5081352,essv5134093,essv5036080,essv5103272,essv5141840,essv5121137,essv5036482,essv5148144,essv5059928,essv5028203,essv5011000,essv5070379,essv5125915,essv5139698,essv5045692,essv5149893,essv5060458,essv5070175,essv5030349,essv5036300,essv5051081,essv5044585,essv5083107,essv5019394,essv5089424,essv5072633,essv5141433,essv5018241,essv5076420,essv5011631,essv5006582,essv5085828,essv5122441,essv5048252,essv5128537,essv5150612,essv5137262,essv5049936,essv5094708,essv5095851,essv5019479,essv5021453,essv5091841,essv5075152,essv5118775,essv5065166,essv5102210,essv5113013,essv5109756,essv5010042,essv5011797,essv5066468,essv5154258,essv5025572,essv5130142,essv5118852,essv5161006,essv5031673,essv5150861,essv5025756,essv5124078,essv5002935,essv5076758,essv5042743,essv5158238,essv5146596,essv5030595,essv5027010,essv5025722,essv5107509,essv5032358,essv5133187,essv5068298,essv5004140,essv5064005,essv5131713,essv5148907,essv5107315,essv5095492,essv5148668,essv5153430,essv5124216,essv5086969,essv5059599,essv5044019,essv5059019,essv5102245,essv5129569,essv5110526,essv5023489,essv5139467,essv5067806,essv5148810,essv5047540,essv5117161,essv5007352,essv5079303,essv5068469,essv5153649,essv5137222,essv5053080,essv5127061,essv5156572,essv5111817,essv5120895,essv5120130,essv5095419,essv5158578,essv5079864,essv5069888,essv5033610,essv5019387,essv5048563,essv5156485,essv5050308,essv5110031,essv5124403,essv5035322,essv5148724,essv5112170,essv5144645,essv5071198,essv5073359,essv5015172,essv5044461,essv5014583,essv5041455,essv5077134,essv5088724,essv5090872,essv5012229,essv5156179,essv5022870,essv5130486,essv5042484,essv5022359,essv5119120,essv5129581,essv5129749,essv5073282,essv5033073,essv5041481,essv5036111,essv5034716,essv5047803,essv5144921,essv5013021,essv5095644,essv5036502,essv5059917,essv5004541,essv5111446,essv5098312,essv5066030,essv5071597,essv5090900,essv5041032,essv5061156,essv5040130,essv5015654,essv5047309,essv5119902,essv5080728,essv5031259,essv5047326,essv5113934,essv5073432,essv5068784,essv5119142,essv5049196,essv5063777,essv5029536,essv5156283,essv5132848,essv5146099,essv5095725,essv5146279,essv5054149,essv5105957,essv5066477,essv5092159,essv5091136,essv5044706,essv5103769,essv5070621,essv5075483,essv5030093,essv5103232,essv5010128,essv5028693,essv5157329,essv5051795,essv5078777,essv5154867,essv5052071,essv5068726,essv5115917,essv5058639,essv5078372,essv5159407,essv5117212,essv5116982,essv5117669,essv5083461,essv5097187,essv5019503,essv5047336,essv5154429,essv5043750,essv5078717,essv5026066,essv5075805,essv5086591,essv5014573,essv5049586,essv5111620,essv5018701,essv5093521,essv5105931,essv5048388,essv5046449,essv5025366,essv5150950,essv5072567,essv5036232,essv5108181,essv5145833,essv5139888,essv5058083,essv5137728,essv5159115,essv5146868,essv5079397,essv5037321,essv5077153,essv5006026,essv5065345,essv5132935,essv5033964,essv5040721,essv5087971,essv5131640,essv5128392,essv5074494,essv5072741,essv5020148,essv5116973,essv5112587,essv5009744,essv5145905,essv5028270,essv5081062,essv5074046,essv5025511,essv5160269,essv5048155,essv5036793,essv5005091,essv5126583,essv5120840,essv5021748,essv5028739,essv5077359,essv5043821,essv5086959,essv5081840,essv5066243,essv5009313,essv5104990,essv5078950,essv5073807,essv5153740,essv5146212,essv5089034,essv5080257,essv5111830,essv5160430,essv5028086,essv5151028,essv5160237,essv5058866,essv5075980,essv5105136,essv5018876,essv5094022,essv5070954,essv5042392,essv5123971,essv5141972,essv5148956,essv5139787,essv5129324,essv5130828,essv5091475,essv5123213,essv5011133,essv5123500,essv5093705,essv5151703,essv5079501,essv5048513,essv5037913,essv5065711,essv5088282,essv5085061,essv5102607,essv5105842,essv5141975,essv5075510,essv5129736,essv5148375,essv5106799,essv5095739,essv5148874,essv5146485,essv5139228,essv5042652,essv5049692,essv5033746,essv5068126,essv5149227,essv5146679,essv5051450,essv5130114,essv5025174,essv5028182,essv5027536,essv5147066,essv5007337,essv5032687,essv5063131,essv5024572,essv5118953,essv5148812,essv5130111,essv5060019,essv5010636,essv5059815,essv5078329,essv5068834,essv5051946,essv5042504,essv5129441,essv5155697,essv5046569,essv5060309,essv5138301,essv5118913,essv5153036,essv5087353,essv5157501,essv5073680,essv5010886,essv5098936,essv5107628,essv5145688,essv5135310,essv5050822,essv5012451,essv5046915,essv5139625,essv5023067,essv5019860,essv5018270,essv5047123,essv5117470,essv5063341,essv5034877,essv5102339,essv5057409,essv5018842,essv5006950,essv5088291,essv5007231,essv5023890,essv5081212,essv5004583,essv5094554,essv5080935,essv5122427,essv5157735,essv5053588,essv5104989,essv5045977,essv5119011,essv5147984,essv5161220,essv5109871,essv5071606,essv5086330,essv5054082,essv5058211,essv5023600,essv5007535,essv5028556,essv5016400,essv5028276,essv5065038,essv5138894,essv5008778,essv5150442,essv5093700,essv5032160,essv5036496,essv5129946,essv5110403,essv5077516,essv5144428,essv5016000,essv5114573,essv5021188,essv5034234,essv5103264,essv5055519,essv5116320,essv5126695,essv5152013,essv5040946,essv5022933,essv5058745,essv5013049,essv5134211,essv5130517,essv5064212,essv5112291,essv5031837,essv5090333,essv5116742,essv5156109,essv5140727,essv5020731,essv5121326,essv5079196,essv5146706,essv5085273,essv5013905,essv5035020,essv5120136,essv5055542,essv5006010,essv5105172,essv5102530,essv5032400,essv5006576,essv5049342,essv5075817,essv5095407,essv5134451,essv5025677,essv5113660,essv5088114,essv5138000,essv5134833,essv5126547,essv5035990,essv5031156,essv5138589,essv5137505,essv5053455,essv5137376,essv5139982,essv5007595,essv5009557,essv5027822,essv5135878,essv5136692,essv5056322,essv5052751,essv5053363,essv5067000,essv5053392,essv5085710,essv5010532,essv5094700,essv5036493,essv5018921,essv5074214,essv5046792,essv5060283,essv5120214,essv5010184,essv5152147,essv5049557,essv5062404,essv5099560,essv5129446,essv5093371,essv5150393,essv5009897,essv5017009,essv5057962,essv5027578,essv5070515,essv5064919,essv5059640 M 1184 0 552 "" NA06986,NA06989,NA06991,NA06993,NA06994,NA06997,NA07022,NA07029,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA07349,NA10830,NA10831,NA10835,NA10838,NA10839,NA10840,NA10843,NA10845,NA10850,NA10855,NA10856,NA10861,NA11830,NA11831,NA11832,NA11839,NA11843,NA11881,NA11891,NA11892,NA11893,NA11894,NA11917,NA11919,NA11920,NA11930,NA11931,NA11994,NA12003,NA12005,NA12006,NA12043,NA12044,NA12057,NA12146,NA12154,NA12156,NA12234,NA12239,NA12248,NA12249,NA12264,NA12273,NA12282,NA12283,NA12286,NA12287,NA12335,NA12340,NA12341,NA12347,NA12348,NA12375,NA12376,NA12399,NA12413,NA12489,NA12708,NA12718,NA12740,NA12750,NA12751,NA12761,NA12763,NA12766,NA12767,NA12776,NA12777,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12818,NA12829,NA12832,NA12842,NA12843,NA12865,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12892,NA17962,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17979,NA17982,NA17983,NA17987,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18114,NA18118,NA18128,NA18131,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18144,NA18148,NA18149,NA18152,NA18153,NA18154,NA18155,NA18156,NA18157,NA18158,NA18160,NA18161,NA18166,NA18484,NA18486,NA18501,NA18503,NA18505,NA18507,NA18508,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18552,NA18555,NA18558,NA18559,NA18562,NA18563,NA18566,NA18570,NA18571,NA18576,NA18577,NA18582,NA18592,NA18593,NA18594,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18616,NA18617,NA18618,NA18620,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18642,NA18643,NA18645,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18862,NA18939,NA18940,NA18942,NA18944,NA18945,NA18946,NA18947,NA18949,NA18951,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18962,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18977,NA18978,NA18980,NA18981,NA18990,NA18993,NA18994,NA18997,NA19000,NA19002,NA19005,NA19007,NA19027,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19062,NA19064,NA19065,NA19067,NA19068,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19083,NA19085,NA19088,NA19095,NA19097,NA19101,NA19103,NA19107,NA19109,NA19127,NA19129,NA19150,NA19171,NA19172,NA19173,NA19184,NA19186,NA19238,NA19248,NA19249,NA19314,NA19346,NA19350,NA19359,NA19385,NA19446,NA19456,NA19625,NA19649,NA19650,NA19657,NA19658,NA19659,NA19661,NA19663,NA19670,NA19671,NA19675,NA19676,NA19677,NA19678,NA19684,NA19720,NA19721,NA19726,NA19747,NA19748,NA19749,NA19751,NA19755,NA19760,NA19762,NA19763,NA19776,NA19777,NA19778,NA19779,NA19780,NA19781,NA19782,NA19788,NA19790,NA19794,NA19795,NA19796,NA19835,NA19917,NA20126,NA20128,NA20276,NA20277,NA20281,NA20282,NA20284,NA20288,NA20292,NA20301,NA20302,NA20322,NA20341,NA20348,NA20359,NA20360,NA20364,NA20504,NA20505,NA20508,NA20509,NA20510,NA20512,NA20515,NA20517,NA20518,NA20520,NA20521,NA20525,NA20527,NA20528,NA20529,NA20534,NA20535,NA20539,NA20540,NA20541,NA20543,NA20581,NA20586,NA20752,NA20753,NA20754,NA20755,NA20758,NA20759,NA20761,NA20765,NA20768,NA20770,NA20771,NA20773,NA20774,NA20778,NA20785,NA20792,NA20796,NA20799,NA20800,NA20802,NA20805,NA20806,NA20807,NA20808,NA20809,NA20812,NA20813,NA20816,NA20819,NA20826,NA20845,NA20847,NA20849,NA20850,NA20852,NA20853,NA20856,NA20858,NA20859,NA20861,NA20862,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20874,NA20877,NA20879,NA20881,NA20882,NA20884,NA20885,NA20887,NA20892,NA20894,NA20895,NA20896,NA20897,NA20898,NA20900,NA20902,NA20903,NA20904,NA20906,NA20908,NA20909,NA20911,NA21089,NA21097,NA21099,NA21100,NA21101,NA21102,NA21104,NA21105,NA21106,NA21107,NA21108,NA21111,NA21115,NA21116,NA21117,NA21119,NA21123,NA21125,NA21137,NA21297,NA21300,NA21301,NA21308,NA21309,NA21313,NA21316,NA21317,NA21318,NA21352,NA21353,NA21357,NA21360,NA21361,NA21362,NA21365,NA21366,NA21385,NA21386,NA21418,NA21420,NA21423,NA21448,NA21451,NA21454,NA21476,NA21479,NA21480,NA21486,NA21487,NA21509,NA21519,NA21520,NA21522,NA21523,NA21525,NA21528,NA21573,NA21576,NA21577,NA21587,NA21597,NA21608,NA21614,NA21617,NA21647,NA21682,NA21689,NA21693,NA21722,NA21723,NA21738,NA21741,NA21784,NA21826 esv6664 9 23352799 23367679 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29105 S 1 0 1 "" SJK esv24578 9 23352830 23367665 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21111 S 451 0 14 "" NA11894,NA11931,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12878,NA15510,NA18508,NA19129 nsv819657 9 23352855 23367741 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418646 S 2 0 1 "" AK1 nsv442539 9 23353115 23363484 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515134 9 23353116 23363316 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628012 S 1414 0 1 "" esv32535 9 23353147 23368121 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98739,essv93849,essv100823,essv101017,essv98140,essv94649,essv101425,essv96991,essv97846,essv95751,essv95597,essv95596,essv93023,essv95293,essv95833,essv94590,essv99108,essv96153,essv97112,essv98591,essv100030,essv98060,essv100188,essv99482,essv98389 M 51 13 10 "" 21606,21634,21656,21693,21772,21791,21805,21817,21837,21841,21863,21872,21911,21932,21938,22007,22075,22085,22086,22259,22286,22335,22352 nsv892787 9 23356416 23415710 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542528 S 6533 1 0 "" MS15782 esv33943 9 23393187 23393415 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100825 S 51 0 1 "" 21656 nsv527740 9 23474919 23476165 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704225 S 2026 0 1 "" nsv524265 9 23507989 23514441 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700162 S 2026 0 1 "" nsv6505 9 23548111 23593761 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6268 S 9 0 1 "" NA12156 nsv892788 9 23575350 23669836 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542529 S 6533 1 0 "" MS15782 nsv892789 9 23649183 23666631 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545288 S 6533 1 0 "" MS16708 nsv892790 9 23669836 23713599 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586941 S 6533 1 0 ELAVL2 IS37986 nsv892791 9 23685179 23710904 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545289 S 6533 1 0 ELAVL2 MS16708 nsv510190 9 23696853 23702853 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618313 S 4 0 1 ELAVL2 CHM nsv438098 9 23759754 23765449 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470085,nssv470084,nssv470087,nssv470083 M 269 0 4 Samples from several populations that are part of the HapMap project. ELAVL2 NA06994,NA07029,NA19144,NA19145 nsv892792 9 23765449 23846669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545290 S 6533 1 0 ELAVL2 MS16708 nsv892793 9 23789111 23969686 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542530 S 6533 1 0 ELAVL2 MS15782 nsv892794 9 23801903 24042569 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586942 S 6533 1 0 ELAVL2 IS37986 nsv831526 9 23857998 24032423 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447581 S 95 1 0 "" esv25765 9 23900743 23906185 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11129 S 451 0 1 "" NA11995 nsv831527 9 24026609 24194882 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447583,nssv1447582 M 95 1 1 "" esv2752290 9 24121800 24534900 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981634,essv6988430,essv6985622,essv6981635 M 771 1 0 "" BEC_309 esv21808 9 24135509 24140358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17094 S 451 0 1 "" NA06985 nsv515741 9 24136203 24136436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661529,nssv690299,nssv673461,nssv656181,nssv673013,nssv684113,nssv682647,nssv676724,nssv655272,nssv693023,nssv679346,nssv672544,nssv659259,nssv690668,nssv675358,nssv688498,nssv658863,nssv678546,nssv652053,nssv652270 M 2026 0 20 "" nsv523633 9 24136203 24142518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699433 S 2026 0 1 "" nsv519880 9 24142518 24144680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697102 S 2026 0 1 "" esv259667 9 24143274 24143648 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394062,essv2394279 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv831528 9 24157266 24340892 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447585 S 95 0 1 "" nsv892795 9 24160867 24478294 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586943 S 6533 1 0 "" IS37986 nsv466303 9 24195004 24325841 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541886 S 1557 0 1 "" 1782681169_A esv272081 9 24267273 24268345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513141,essv2513079 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA12249 nsv522253 9 24322121 24325841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695033 S 2026 0 1 "" nsv526799 9 24322121 24375357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703153 S 2026 0 1 "" esv2012085 9 24346247 24346932 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969680 S 1 0 1 "" NA18507 nsv892796 9 24375357 24430663 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504244 S 6533 1 0 "" SP52338 nsv892797 9 24418847 24501918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537993 S 6533 0 1 "" MS13444 dgv8127n71 9 24447291 24488325 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892798,nsv892800,nsv892799 M 6533 3 0 "" IS31825,SP50880,SP56304 nsv438099 9 24457698 24484302 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470088 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA11881 nsv527099 9 24457698 24485241 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703478 S 2026 1 0 "" nsv818692 9 24457698 24485241 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418087 S 112 1 0 "" NA11881 dgv2301e1 9 24457996 24518103 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24177,esv983 M 271 0 0 "" NA12751 nsv892801 9 24478294 24661257 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545291 S 6533 1 0 "" MS16708 nsv6506 9 24480866 24506126 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9761 S 9 0 1 "" NA18507 nsv415427 9 24482759 24484792 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434005 M 24 "" esv2609822 9 24484744 24499947 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5380485 S 1 0 1 "" NA18507 nsv831529 9 24485736 24625767 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447586 S 95 0 1 "" esv2650857 9 24486274 24501019 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360765 S 1 0 1 "" NA18507 esv1959068 9 24486390 24500310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4598667 S 1 0 1 "" NA18507 nsv8428 9 24486510 24489685 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19632 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv515135 9 24487668 24498286 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628013 S 1414 0 1 "" nsv442138 9 24487680 24498238 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8429 9 24492034 24509135 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17916 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10863 esv22445 9 24492114 24509104 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11676 S 451 0 3 "" NA12239,NA12749,NA12828 esv2422158 9 24492737 24507682 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5105098,essv5144391,essv5060178,essv5041954,essv5101278,essv5139154,essv5012642,essv5028081,essv5115389,essv5097819,essv5116008,essv5041241,essv5152878,essv5016658,essv5061358,essv5012954,essv5084284,essv5039810,essv5110095,essv5030999,essv5087318,essv5058122,essv5068983,essv5113737,essv5024056,essv5038278,essv5118105,essv5130191,essv5062038,essv5048004,essv5004963,essv5109255,essv5106472,essv5138843,essv5089116,essv5047192,essv5138360,essv5024208,essv5158769,essv5109222,essv5128909,essv5075195,essv5094093,essv5090850 M 1184 0 44 "" NA06995,NA07347,NA07435,NA10863,NA10865,NA11843,NA11892,NA11893,NA12005,NA12056,NA12234,NA12239,NA12335,NA12341,NA12739,NA12748,NA12749,NA12750,NA12751,NA12817,NA12828,NA19658,NA19916,NA19918,NA20284,NA20319,NA20515,NA20540,NA20544,NA20752,NA20759,NA20765,NA20783,NA20786,NA20787,NA20792,NA20796,NA20797,NA20803,NA20810,NA20818,NA20845,NA20870,NA21580 esv28753 9 24545934 24551311 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16353 S 451 0 3 "" NA18517,NA19114,NA19190 nsv466305 9 24595821 24641946 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541887 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01414 nsv892802 9 24607369 24735047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542531 S 6533 1 0 "" MS15782 nsv892803 9 24621812 24717103 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561080 S 6533 0 1 "" MS24837 nsv892804 9 24661671 24735047 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569095 S 6533 0 1 "" IS31419 nsv892805 9 24705098 24744535 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586944 S 6533 1 0 "" IS37986 esv275376 9 24791540 24820700 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585778,essv2585629 M 1250 1 1 "" nsv892806 9 24792015 24843876 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545292 S 6533 1 0 "" MS16708 nsv892807 9 24843876 25019338 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586945 S 6533 1 0 "" IS37986 nsv892808 9 24873440 24943447 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593544 S 6533 1 0 "" IS39438 esv259563 9 24898365 24898772 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394145,essv2393950,essv2393709,essv2394317 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv259899 9 24898369 24898790 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396767,essv2400040,essv2398778,essv2397531,essv2396779,essv2399625,essv2397311,essv2401038,essv2399916,essv2397787,essv2396571,essv2400625,essv2394956,essv2398414,essv2400372,essv2399574,essv2395065,essv2400595,essv2399933,essv2398439,essv2400675,essv2395320,essv2399985,essv2395136,essv2397394,essv2399301,essv2399760,essv2396348,essv2398037,essv2398725,essv2399676,essv2395919,essv2400462 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07347,NA11992,NA12249,NA12761,NA12878,NA12891,NA18504,NA18505,NA18507,NA18510,NA18545,NA18552,NA18555,NA18570,NA18571,NA18576,NA18856,NA18871,NA18912,NA18916,NA18940,NA18953,NA18980,NA19102,NA19129,NA19138,NA19147,NA19190,NA19210,NA19238,NA19240 nsv892809 9 24901674 25039865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545293 S 6533 1 0 "" MS16708 nsv510942 9 24941981 24972166 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621611 S 4 0 0 "" NA15510 nsv6507 9 24968823 24993607 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv794,nssv8595 M 9 2 0 "" NA12156,NA19240 nsv509297 9 24969317 24972166 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623557,nssv619549 M 4 2 0 "" NA10860,NA18994 esv1002119 9 24969799 24971453 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564755 S 3 1 0 "" HuRef esv1579984 9 24970781 24970781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4137827 S 2 1 0 "" HuRef nsv892810 9 24975964 25382322 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542532 S 6533 1 0 "" MS15782 nsv509298 9 24978698 24978698 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618075 S 4 1 0 "" CHM nsv466307 9 25017430 25109899 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541889 S 1557 0 1 "" 1780854576_A esv23973 9 25020864 25021737 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12602 S 451 0 1 "" NA12004 nsv892811 9 25088890 25166251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545294 S 6533 1 0 "" MS16708 nsv892812 9 25088890 25342327 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586946 S 6533 1 0 "" IS37986 esv2163240 9 25089626 25089996 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4670927 S 1 0 1 "" NA18507 nsv415349 9 25089791 25089876 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433927 M 24 "" dgv32e196 9 25108499 25204172 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422367,esv2422340 M 181 0 2 "" ND00745,ND04404 nsv892813 9 25134663 25239932 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567022 S 6533 0 1 "" IS31041 nsv819820 9 25205201 25206128 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419123 S 2 0 1 "" AK1 esv268181 9 25208466 25208551 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517403 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 nsv824891 9 25208582 25211558 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425917 S 31 0 1 "" AK4 dgv2302e1 9 25211244 25374959 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1372,essv21950 M 271 0 0 "" NA07000 nsv824892 9 25226792 25228217 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425918 S 31 1 0 "" AK4 nsv466310 9 25253760 25284701 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541890 S 1557 0 1 "" 1780862599_A nsv519409 9 25253760 25342327 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678343,nssv658958,nssv691663,nssv671505,nssv695833,nssv656046,nssv657945 M 2026 1 6 "" nsv818693 9 25253760 25342327 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417046 S 112 0 1 "" NA07000 nsv892814 9 25253918 25284701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554631 S 6533 0 1 "" MS20872 nsv466311 9 25253918 25342327 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541891 S 1557 0 1 "" NINDS_22 nsv892815 9 25264255 25284701 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537674,nssv1581900,nssv1545295 M 6533 1 2 "" IS35743,MS13292,MS16708 nsv466313 9 25265811 25288264 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541892 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01065 dgv8128n71 9 25265811 25399024 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892821,nsv892816,nsv892820,nsv892822 M 6533 0 4 "" IS31554,IS33533,IS35229,MS17114 dgv8129n71 9 25269952 25315777 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892818,nsv892817 M 6533 0 3 "" IS31679,IS31768,IS36219 dgv8130n71 9 25273201 25339769 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892823,nsv892819 M 6533 0 2 "" IS30522,IS31419 esv1091475 9 25275553 25275553 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4073620 S 2 1 0 "" HuRef nsv415887 9 25276010 25276173 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434465 M 24 "" nsv892824 9 25353830 25416760 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550371 S 6533 0 1 "" MS18422 esv991434 9 25356470 25365560 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564382 S 3 0 1 "" HuRef nsv892825 9 25445760 25509176 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542533 S 6533 1 0 "" MS15782 nsv522942 9 25488831 25490238 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698607 S 2026 0 1 "" nsv892826 9 25527109 25551285 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545296 S 6533 1 0 "" MS16708 nsv892827 9 25541426 25593439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586947 S 6533 1 0 "" IS37986 nsv892828 9 25544068 25566240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500998 S 6533 0 1 "" SP51054 dgv930n27 9 25552454 25589995 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466316,nsv466319,nsv466318 M 1557 0 3 "" HGDP00267,NINDS_156,NINDS_213 nsv831530 9 25553811 25744022 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447587 S 95 1 0 TUSC1 nsv892829 9 25569842 25605456 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499886 S 6533 0 1 "" SP50107 esv2333760 9 25583887 25584641 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4810855 S 1 0 1 "" NA18507 nsv416591 9 25584088 25584448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435169 M 24 "" esv274185 9 25590918 25591075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580015 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv270648 9 25590923 25591112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510088,essv2503192,essv2496660,essv2511240,essv2495261,essv2507987,essv2500202,essv2499464,essv2508047,essv2512261,essv2502874,essv2513225,essv2510340,essv2495871,essv2508588,essv2508387,essv2503774,essv2493485,essv2505003,essv2502751,essv2506208,essv2494575,essv2500082,essv2508171,essv2512918,essv2511148,essv2496946,essv2503665,essv2503945,essv2495080,essv2499571,essv2513044 M 157 32 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07357,NA10847,NA11829,NA11881,NA11894,NA11931,NA11992,NA12003,NA12006,NA12044,NA12045,NA12155,NA12156,NA12249,NA12414,NA12489,NA12717,NA12749,NA12761,NA12763,NA12828,NA12892,NA18523,NA18550,NA18573,NA18579,NA18609,NA18944,NA19190 nsv466320 9 25600272 25633333 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541897 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00647 dgv8131n71 9 25608261 25651720 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892833,nsv892831,nsv892830,nsv892832 M 6533 0 4 "" MS10999,MS15269,MS21905,MS23109 dgv8132n71 9 25623688 25667349 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892834,nsv892835 M 6533 2 0 TUSC1 MS15782,MS16708 nsv892836 9 25642561 25667349 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578891 S 6533 0 1 TUSC1 IS34962 nsv521564 9 25649613 25656291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698181 S 2026 0 1 "" nsv824893 9 25657989 25672355 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426846,nssv1428456 M 31 2 0 TUSC1 AK10,AK6 dgv8133n71 9 25703816 25815595 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892837,nsv892838 M 6533 2 0 "" MS15782,MS16708 esv24003 9 25712880 25714737 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19298 S 451 0 2 "" NA18858,NA19114 esv275471 9 25725449 25727467 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585808 S 1250 0 1 "" nsv892839 9 25740661 26040209 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586948 S 6533 1 0 "" IS37986 esv2609077 9 25766080 25767447 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207881 S 1 0 1 "" NA18507 esv2041514 9 25766717 25767170 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4498024 S 1 0 1 "" NA18507 esv1776705 9 25766932 25767001 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3995984 S 2 0 1 "" HuRef nsv416965 9 25766954 25767024 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435543 M 24 "" nsv415941 9 25776578 25776578 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434519 M 24 "" esv2422440 9 25840788 25978298 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161380 S 181 1 0 "" ND01684 nsv892840 9 25857219 26024314 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516536 S 6533 0 1 "" SP56856 nsv892841 9 25891396 25961497 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542536 S 6533 1 0 "" MS15782 nsv466322 9 25894637 25924932 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541898 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00925 nsv516906 9 25903301 25909851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681240,nssv680221,nssv681494,nssv654856 M 2026 0 4 "" nsv466323 9 25909851 25961497 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541899 S 1557 0 1 "" 1780862001_A nsv471292 9 25909851 25978972 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545840 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01182 nsv519537 9 25914754 25919109 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696907 S 2026 1 0 "" nsv522142 9 25914754 25924932 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694915 S 2026 0 1 "" nsv892842 9 25944098 26092954 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596854 S 6533 0 1 LOC100506422 IS40657 nsv466324 9 25995487 26102748 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541900 S 1557 1 0 LOC100506422 NINDS_79 nsv892843 9 26025315 26068764 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585356 S 6533 0 1 LOC100506422 IS37428 nsv892844 9 26052582 26288134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545299 S 6533 1 0 LOC100506422 MS16708 nsv824894 9 26069762 26070376 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436812 S 31 0 1 LOC100506422 NA18542 dgv8134n71 9 26111103 26169065 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892846,nsv892845 M 6533 0 2 "" IS31179,IS35145 nsv892847 9 26124888 26200141 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546179 S 6533 0 1 "" MS17114 nsv892848 9 26141961 26181574 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576117 S 6533 0 1 "" IS33878 nsv892849 9 26215232 26274317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586949 S 6533 1 0 "" IS37986 nsv526445 9 26229410 26238035 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702748 S 2026 0 1 "" esv2752291 9 26255534 26385883 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983945,essv6983946 M 771 0 1 "" BEC_736 dgv8135n71 9 26255879 26292903 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892852,nsv892850,nsv892851 M 6533 0 3 "" IS31419,IS33616,IS33864 nsv518193 9 26265964 26292964 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695617 S 2026 0 1 "" nsv466329 9 26292903 26312639 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541902 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00674 nsv892853 9 26316100 26447404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586950 S 6533 1 0 "" IS37986 nsv892854 9 26316100 26739094 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542537 S 6533 1 0 "" MS15782 esv2609547 9 26322612 26323565 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5189482 S 1 1 0 "" NA18507 esv1185749 9 26323077 26323077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347452 S 2 1 0 "" HuRef nsv892855 9 26323942 26536080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545300 S 6533 1 0 "" MS16708 nsv831531 9 26324440 26465736 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447590,nssv1447600,nssv1447598,nssv1447592,nssv1447597,nssv1447599,nssv1447604,nssv1447601,nssv1447591,nssv1447605,nssv1447603,nssv1447602,nssv1447608,nssv1447596,nssv1447593,nssv1447589,nssv1447594,nssv1447588,nssv1447607,nssv1447609,nssv1447610 M 95 17 4 "" nsv522329 9 26371874 26381495 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694156 S 2026 0 1 "" esv273311 9 26395630 26395843 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578927,essv2579634 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv892856 9 26413082 26453378 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506413 S 6533 0 1 "" SP54345 esv274005 9 26443941 26444266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582036,essv2582299,essv2582937,essv2584084,essv2583583 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19240 esv268593 9 26466332 26466464 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521069,essv2526110,essv2523377,essv2577636,essv2529087,essv2530644,essv2535966,essv2558133 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA11894,NA11918,NA12004,NA12043,NA12749,NA12873 nsv528542 9 26499378 26505052 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705154 S 2026 0 1 "" esv1097160 9 26502927 26503242 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002742 S 2 0 1 "" HuRef esv999597 9 26502931 26503245 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583209 S 3 0 1 "" HuRef esv24651 9 26520630 26521474 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18227 S 451 0 1 "" NA07045 nsv520604 9 26536080 26541726 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697514 S 2026 0 1 "" nsv442139 9 26557699 26562239 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv522727 9 26557999 26562236 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698359 S 2026 0 1 "" nsv818694 9 26557999 26562236 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417760,nssv1417769 M 112 0 2 "" NA10863,NA12234 nsv892857 9 26583785 26623841 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567622 S 6533 0 1 "" IS31133 nsv6508 9 26592437 26637117 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8596 S 9 0 1 "" NA12156 nsv6510 9 26597669 26631966 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv795 S 9 1 0 "" NA19240 nsv892858 9 26599613 26773463 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586951 S 6533 1 0 "" IS37986 dgv931n27 9 26631557 26681668 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466331,nsv466330 M 1557 0 2 "" HGDP01330,HGDP01336 nsv892859 9 26633035 26681668 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552717 S 6533 0 1 "" MS19587 nsv528085 9 26649562 26656571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704621 S 2026 0 1 "" esv2508182 9 26679086 26680489 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230010 S 1 0 1 "" NA18507 dgv8136n71 9 26694385 26779940 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892860,nsv892861 M 6533 0 12 "" SP50530,SP50586,SP52378,SP52428,SP52456,SP52858,SP52908,SP54239,SP55312,SP55926,SP56903,SP57771 dgv932n27 9 26699294 26779975 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466333,nsv466332 M 1557 0 2 "" 1780862459_A,HGDP00106 nsv442140 9 26703320 26708477 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv6511 9 26742486 26775973 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2806 S 9 1 0 "" NA18555 esv1439980 9 26804380 26804380 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4360623 S 2 1 0 "" HuRef nsv416604 9 26804396 26804478 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435182 M 24 "" nsv528614 9 26883662 27064233 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705242 S 2026 1 0 IFT74,LRRC19,PLAA esv996180 9 26890829 26891765 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564070 S 3 1 0 "" HuRef nsv517269 9 26935976 27127242 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654170,nssv681883,nssv670112,nssv682582 M 2026 4 0 IFT74,LRRC19,PLAA,TEK nsv892862 9 26946663 27180655 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586952 S 6533 1 0 IFT74,LRRC19,TEK IS37986 nsv466334 9 27018947 27088940 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541907 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations IFT74 HGDP00573 esv9236 9 27055861 27055960 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31677 S 1 1 0 "" SJK nsv892863 9 27128898 27160934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540972 S 6533 1 0 TEK MS15103 nsv6512 9 27145677 27190455 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8597 S 9 0 1 TEK NA12156 nsv892864 9 27166554 27286705 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542538 S 6533 1 0 C9orf11,LINC00032,TEK MS15782 esv1009235 9 27179804 27186618 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564191 S 3 0 1 TEK HuRef nsv466336 9 27186119 27282703 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541908 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf11,LINC00032,TEK HGDP01418 nsv471294 9 27186119 27282703 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545841 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf11,LINC00032,TEK HGDP01418 esv23509 9 27190615 27193679 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20809 S 451 1 0 TEK NA07045 nsv824895 9 27207758 27208350 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436813 S 31 0 1 TEK NA18542 nsv892865 9 27207992 27248216 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1525926 S 6533 1 0 LINC00032,TEK SP56894 nsv466337 9 27240868 27343460 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541909 S 1557 0 1 C9orf11,LINC00032,MOBKL2B 1780862529_A nsv892866 9 27264370 27322818 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586953 S 6533 1 0 C9orf11,LINC00032,MOBKL2B IS37986 nsv525488 9 27271151 27273020 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701617 S 2026 0 1 LINC00032 esv2131938 9 27341179 27341530 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4929763 S 1 0 1 MOBKL2B NA18507 esv1113815 9 27347145 27347145 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3899264 S 2 1 0 MOBKL2B HuRef nsv892867 9 27357278 27433802 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586954 S 6533 1 0 MOBKL2B IS37986 nsv892868 9 27428411 27458461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542539 S 6533 1 0 MOBKL2B MS15782 nsv892869 9 27468052 27485418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510509 S 6533 0 1 MOBKL2B SP54967 nsv892870 9 27492986 27608056 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542540 S 6533 1 0 C9orf72,IFNK,MOBKL2B MS15782 nsv892871 9 27523001 27654162 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586955 S 6533 1 0 C9orf72 IS37986 nsv892872 9 27534943 27940863 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577952 S 6533 1 0 C9orf72,LINGO2 IS34612 nsv831532 9 27559115 27780167 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447611 S 95 1 0 C9orf72 nsv517654 9 27611563 27613558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665372,nssv652680,nssv662942,nssv673698,nssv671316,nssv668035,nssv658780 M 2026 0 7 "" nsv892873 9 27680090 27750185 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542541 S 6533 1 0 "" MS15782 esv1957458 9 27699858 27700549 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4590014 S 1 0 1 "" NA18507 nsv507510 9 27720968 27726968 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617790,nssv621940 M 4 2 0 "" CHM,NA10860 esv271734 9 27813494 27813816 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510645,essv2494129,essv2508430,essv2505717,essv2509295 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18582,NA18861,NA18909 dgv933n27 9 27835760 27887124 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466340,nsv466341 M 1557 2 0 "" HGDP00843,HGDP00846 nsv892874 9 27917442 28057491 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586956 S 6533 1 0 LINGO2 IS37986 nsv892875 9 27975938 27997239 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507424 S 6533 0 1 LINGO2 SP54625 nsv519211 9 28030264 28033247 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694316 S 2026 0 1 LINGO2 nsv521408 9 28032791 28040777 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698018 S 2026 0 1 LINGO2 esv25335 9 28037275 28041288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15962 S 451 0 4 LINGO2 NA12414,NA12828,NA18858,NA18909 nsv824896 9 28037341 28041233 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441217,nssv1441495 M 31 0 2 LINGO2 NA18547,NA18969 nsv820294 9 28037359 28041062 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419572 S 2 0 1 LINGO2 AK1 nsv442540 9 28037588 28040691 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LINGO2 esv2422138 9 28037588 28040777 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5111995,essv5057020,essv5083686,essv5106285,essv5074600,essv5028604,essv5011028,essv5022206,essv5028546,essv5114457,essv5054275,essv5016924,essv5032203,essv5005851,essv5077834,essv5078512,essv5105232,essv5156963,essv5152746,essv5154590,essv5059212,essv5013471,essv5022322,essv5024716,essv5015202,essv5050609,essv5016805,essv5047921,essv5023273,essv5017030,essv5142610,essv5050563,essv5089217,essv5015538,essv5026310,essv5154645,essv5024603,essv5006518,essv5124810,essv5003024,essv5143961,essv5078346,essv5082174,essv5043356,essv5012834,essv5015872,essv5070330,essv5029457,essv5096364,essv5051813,essv5014333,essv5095372,essv5020988,essv5151108,essv5090554,essv5004392,essv5003400,essv5123346,essv5069825,essv5061054,essv5002435,essv5090199,essv5083674,essv5095905,essv5108422,essv5126580,essv5053992,essv5094444,essv5122716,essv5136658,essv5049010,essv5115884,essv5075003,essv5141951,essv5138262,essv5047350,essv5067909,essv5092549,essv5050831,essv5107100,essv5046123,essv5023288,essv5060913,essv5128853,essv5136720,essv5140617,essv5093218,essv5066124,essv5080946,essv5062262,essv5094002,essv5020979,essv5124971,essv5120484,essv5160781,essv5142664,essv5101120,essv5127901,essv5158340,essv5026100,essv5073053,essv5112390,essv5047533,essv5046451,essv5102024,essv5155078,essv5032596,essv5003697,essv5084098,essv5101877,essv5005697,essv5127262,essv5008251 M 1184 0 113 LINGO2 NA10846,NA12144,NA12817,NA12828,NA12842,NA12874,NA12889,NA17987,NA17993,NA18109,NA18128,NA18520,NA18559,NA18561,NA18603,NA18632,NA18638,NA18640,NA18641,NA18685,NA18858,NA18909,NA18911,NA18945,NA18952,NA18954,NA18969,NA18974,NA18977,NA19002,NA19005,NA19036,NA19060,NA19070,NA19074,NA19084,NA19095,NA19098,NA19107,NA19113,NA19117,NA19138,NA19139,NA19144,NA19159,NA19174,NA19175,NA19193,NA19247,NA19249,NA19257,NA19317,NA19332,NA19372,NA19381,NA19383,NA19445,NA19451,NA19473,NA19625,NA19657,NA19670,NA19671,NA19704,NA19705,NA19711,NA19746,NA19748,NA19755,NA19757,NA19776,NA19780,NA19781,NA19795,NA19796,NA19819,NA19828,NA19921,NA20129,NA20287,NA20294,NA20332,NA20344,NA20357,NA20516,NA20520,NA20756,NA20766,NA20771,NA20786,NA20872,NA20874,NA20881,NA20891,NA20892,NA20894,NA20903,NA20907,NA21089,NA21107,NA21115,NA21123,NA21307,NA21312,NA21313,NA21370,NA21391,NA21436,NA21491,NA21617,NA21647,NA21648,NA21693 nsv515136 9 28037760 28040620 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628015 S 1414 0 1 LINGO2 nsv515752 9 28039518 28045603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681884,nssv656753,nssv653180,nssv655137,nssv690381,nssv663509,nssv672691,nssv661246,nssv682917,nssv677437,nssv693143,nssv684417,nssv656376,nssv662115,nssv705913,nssv688459,nssv690585,nssv689052,nssv693973,nssv670113,nssv665679,nssv652064,nssv674600,nssv659763,nssv689933,nssv658835,nssv663141,nssv657708,nssv679532,nssv679748,nssv685279,nssv689531,nssv659550,nssv670086,nssv680222,nssv690809,nssv655297,nssv682011,nssv675044,nssv674289,nssv684247,nssv680545,nssv691929,nssv694984,nssv693084,nssv652589,nssv681633,nssv681495,nssv676225,nssv669179,nssv667355,nssv687197,nssv680580,nssv678836,nssv660811,nssv662288,nssv678745,nssv690427,nssv676400,nssv672255,nssv659697,nssv683067,nssv680898,nssv685188,nssv692726,nssv683097 M 2026 0 66 LINGO2 esv23641 9 28047700 28049981 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10230 S 451 0 1 LINGO2 NA19129 esv2569146 9 28067023 28069903 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357279 S 1 0 1 LINGO2 NA18507 esv2405496 9 28067375 28069389 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4568405 S 1 0 1 LINGO2 NA18507 esv23647 9 28067619 28069168 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21376 S 451 0 5 LINGO2 NA19099,NA19108,NA19129,NA19190,NA19225 nsv515582 9 28083874 28084175 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663997,nssv685974 M 2026 0 2 LINGO2 nsv892876 9 28140675 28388225 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528696 S 6533 0 1 LINGO2 SP81349 dgv259e55 9 28156400 28370167 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752294,esv2752293,esv2752292 M 771 0 3 LINGO2 BEC_451,BEC_628,BEC_704 esv1007916 9 28176546 28180615 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564654 S 3 1 0 LINGO2 HuRef esv270849 9 28185338 28185696 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511025,essv2506788,essv2495447,essv2511447,essv2505551,essv2502552,essv2500335,essv2504240,essv2501083,essv2494805,essv2506263,essv2498341,essv2508733,essv2499288,essv2498609,essv2494108,essv2495638,essv2504631,essv2497539,essv2510447,essv2512175,essv2498000,essv2495090 M 157 23 0 Samples from several populations that are part of the HapMap project. LINGO2 NA07051,NA11831,NA11918,NA11919,NA11920,NA12154,NA12750,NA12891,NA18505,NA18516,NA18519,NA18523,NA18526,NA18532,NA18605,NA18858,NA18871,NA18916,NA19099,NA19147,NA19172,NA19238,NA19240 esv272614 9 28185344 28185597 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580437,essv2580536,essv2579605 M 7 3 0 Samples from several populations that are part of the HapMap project. LINGO2 NA12891,NA19238,NA19240 esv1051208 9 28185389 28185389 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016697 S 2 1 0 LINGO2 HuRef nsv520823 9 28188623 28332179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677648,nssv699392,nssv702610,nssv699955,nssv675995 M 2026 0 5 LINGO2 esv2256172 9 28216465 28216869 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954754 S 1 0 1 LINGO2 NA18507 nsv892877 9 28221047 28370167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542542 S 6533 1 0 LINGO2 MS15782 nsv892878 9 28271650 28470661 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586957 S 6533 1 0 LINGO2 IS37986 dgv8137n71 9 28293495 28344327 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892880,nsv892879,nsv892881 M 6533 0 4 LINGO2 SP50098,SP54442,SP54682,SP56690 nsv466346 9 28303126 28331935 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541913 S 1557 0 1 LINGO2 1780854293_A esv2272620 9 28399719 28400165 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4559604 S 1 0 1 LINGO2 NA18507 esv1147897 9 28399882 28399882 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3760766 S 2 1 0 LINGO2 HuRef nsv526322 9 28427141 28463654 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702611 S 2026 1 0 LINGO2 esv2422438 9 28434243 28630263 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161482 S 181 0 1 LINGO2 ND01757 esv259819 9 28442802 28466214 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397750 S 144 0 0 Samples from several populations that are part of the HapMap project. LINGO2 NA18956 nsv6513 9 28443763 28489523 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6269 S 9 0 1 LINGO2 NA12156 nsv6514 9 28444555 28447652 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10658 S 9 1 0 LINGO2 NA18956 esv274431 9 28448997 28449194 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579148,essv2579516 M 7 2 0 Samples from several populations that are part of the HapMap project. LINGO2 NA19239,NA19240 nsv442141 9 28454272 28463650 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LINGO2 dgv2303e1 9 28462018 28840774 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22968,esv669 M 271 0 0 LINGO2 NA07357 dgv8138n71 9 28491039 28584913 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892884,nsv892885,nsv892883,nsv892882 M 6533 6 0 LINGO2 MS10183,MS19638,MS21517,MS24031,MS24854,MS24970 dgv8139n71 9 28493578 28635626 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892886,nsv892887,nsv892888 M 6533 0 4 LINGO2 IS30580,MS13319,MS13813,MS16349 nsv523607 9 28506764 28519410 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699401 S 2026 0 1 LINGO2 nsv6515 9 28530696 28576037 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6270 S 9 0 1 LINGO2 NA12156 nsv466347 9 28532803 28556849 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541914 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINGO2 HGDP00302 nsv471295 9 28532803 28561014 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545842 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINGO2 HGDP00288 nsv523230 9 28534375 28650665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698953 S 2026 0 1 LINGO2 nsv892889 9 28535107 28632201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1528346,nssv1527651 M 6533 0 2 LINGO2 SP80916,SP81202 nsv892890 9 28540930 28599758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523628 S 6533 0 1 LINGO2 SP54118 dgv8140n71 9 28540930 28722830 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892894,nsv892891,nsv892892,nsv892893 M 6533 0 7 LINGO2 MS13351,MS15312,MS16008,MS17056,MS20987,MS23376,MS25839 nsv521666 9 28552149 28561014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698285 S 2026 0 1 LINGO2 nsv519569 9 28552149 28591613 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696925 S 2026 1 0 LINGO2 dgv8141n71 9 28556849 28584913 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892896,nsv892895 M 6533 0 3 LINGO2 MS10867,MS16265,MS20588 dgv8142n71 9 28561014 28618500 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892899,nsv892897 M 6533 0 5 LINGO2 MS22013,SP51391,SP52569,SP52868,SP81389 nsv892898 9 28562086 28857478 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586958 S 6533 1 0 LINGO2,MIR876 IS37986 esv2525095 9 28574295 28575920 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5203537 S 1 0 1 LINGO2 NA18507 esv2403327 9 28574716 28575225 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517701 S 1 0 1 LINGO2 NA18507 esv3654 9 28574889 28575079 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26095 S 1 0 1 Single Asian sample YH LINGO2 YH dgv263n6 9 28574920 28575027 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv416886,nsv416643 M 24 LINGO2 esv998355 9 28574930 28575021 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579851 S 3 0 1 LINGO2 HuRef esv1148835 9 28574935 28575027 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3716021 S 2 0 1 LINGO2 HuRef essv20759 9 28577774 28769376 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LINGO2 NA07357 nsv892900 9 28577994 28661589 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504843 S 6533 1 0 LINGO2 SP52772 esv34239 9 28583600 28756228 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989171,essv6980381,essv6980380,essv6987779,essv6987778 M 771 0 1 LINGO2 NA07357 nsv517027 9 28585171 28751593 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653229,nssv665423,nssv682078,nssv666863,nssv687540,nssv663595,nssv656344,nssv694218,nssv677348,nssv675011,nssv701173,nssv666533,nssv656295,nssv676462,nssv668466,nssv668710,nssv653639,nssv699467 M 2026 0 18 LINGO2 nsv818695 9 28585171 28751593 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418012 S 112 0 1 LINGO2 NA07357 dgv934n27 9 28585171 28758411 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466348,nsv466351 M 1557 0 2 LINGO2 1798860010_A,NINDS_40 nsv892901 9 28591613 28639447 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534024 S 6533 0 1 LINGO2 MS11396 dgv8143n71 9 28591613 28758411 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892903,nsv892907,nsv892906,nsv892902,nsv892909 M 6533 0 20 LINGO2 IS40867,MS10103,MS10280,MS11505,MS12039,MS12963,MS13735,MS13777,MS14493,MS14702,MS15385,MS15402,MS15808,MS16986,MS18465,MS20020,MS23077,MS24280,MS25327,SP81108 dgv8144n71 9 28591613 28794098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892905,nsv892904 M 6533 0 3 LINGO2 MS17580,MS21252,MS25943 nsv466352 9 28599758 28712712 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541917 S 1557 0 1 LINGO2 1780854305_A nsv892908 9 28618500 28710797 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518706 S 6533 0 1 LINGO2 SP57925 nsv6516 9 28619167 28653141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8599 S 9 1 0 LINGO2 NA12156 esv1188668 9 28622758 28622758 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4299962 S 2 1 0 LINGO2 HuRef nsv471296 9 28639447 28932608 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545844 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINGO2,MIR873,MIR876 HGDP01281 esv2752295 9 28642515 28705838 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982616,essv6989316,essv6982617 M 771 0 1 LINGO2 BEC_570 esv2752296 9 28642515 28751593 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982242,essv6989595,essv6982241 M 771 0 1 LINGO2 BEC_405 esv29910 9 28651946 28655145 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20392 S 451 0 1 LINGO2 NA18523 dgv8145n71 9 28653042 28702428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892913,nsv892910,nsv892911,nsv892912 M 6533 0 5 LINGO2 SP50561,SP53440,SP54561,SP58318,SP81072 nsv892914 9 28673511 28722830 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581244 S 6533 0 1 LINGO2 IS35548 nsv466356 9 28695607 28724729 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541918 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINGO2 HGDP00766 nsv519040 9 28700505 28816601 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696509 S 2026 0 1 LINGO2 nsv892915 9 28701487 28806121 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592041 S 6533 0 1 LINGO2 IS39194 essv18511 9 28705838 28724248 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. LINGO2 NA12763 esv22492 9 28730061 28757224 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17035 S 451 0 1 "" NA18523 esv270003 9 28792455 28798574 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493328,essv2501012 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18856 nsv892916 9 28818789 28993807 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542543 S 6533 1 0 MIR873,MIR876 MS15782 nsv8430 9 28827815 28839110 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17883,nssv17988,nssv17180,nssv20774,nssv16399,nssv17505,nssv17027,nssv20053 M 31 0 8 Samples from several populations that are part of the HapMap project. "" NA07048,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853 esv27168 9 28830417 28837699 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17989,esv18476 M 451 0 12 "" NA07037,NA07045,NA11995,NA12287,NA12489,NA18508,NA18517,NA18861,NA18909,NA19114,NA19147,NA19190 esv2458446 9 28834005 28835356 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295258 S 1 0 1 "" NA18507 dgv193e180 9 28836281 28837833 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1009292,esv1009994 M 3 0 1 "" HuRef dgv1214n67 9 28836302 28837833 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824899,nsv824901,nsv824900,nsv824898 M 31 0 8 "" AK10,AK20,AK4,NA18537,NA18564,NA18582,NA18949,NA18969 nsv819775 9 28836341 28838077 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419317 S 2 0 1 "" AK1 esv2112607 9 28837572 28837965 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4735391 S 1 0 1 "" NA18507 esv1324908 9 28837757 28837819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3774877 S 2 0 1 "" HuRef nsv415588 9 28837801 28837854 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434166 M 24 "" esv2574493 9 28950088 28951089 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208162 S 1 1 0 "" NA18507 esv989504 9 28950600 28950600 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573521 S 3 1 0 "" HuRef esv1725580 9 28950619 28950619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3947352 S 2 1 0 "" HuRef nsv892917 9 28967705 29140822 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586959 S 6533 1 0 "" IS37986 nsv892918 9 29014894 29052138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514445 S 6533 0 1 "" SP56004 nsv526640 9 29024430 29117577 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702963 S 2026 0 1 "" nsv831533 9 29028933 29198810 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447612,nssv1447613 M 95 2 0 "" nsv892919 9 29029174 29182125 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591738 S 6533 0 1 "" IS39011 nsv6517 9 29077822 29099196 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv796,nssv1781 M 9 0 2 "" NA18555,NA19240 esv22038 9 29082325 29088033 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10612,esv19290 M 451 0 16 "" NA06985,NA11894,NA11993,NA12004,NA12239,NA12776,NA12828,NA12878,NA18508,NA18517,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240 dgv1215n67 9 29082429 29087970 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824903,nsv824904,nsv824902 M 31 0 21 "" AK10,AK12,AK14,AK16,AK20,AK6,AK8,NA18526,NA18537,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18968,NA18969,NA18972,NA18973 nsv820295 9 29082459 29088063 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419718 S 2 0 1 "" AK1 esv2756 9 29082535 29088153 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25197 S 1 0 1 Single Asian sample YH "" YH nsv511413 9 29082556 29094152 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626022 S 1 1 0 "" 1 esv9636 9 29082578 29088020 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32077 S 1 0 1 "" SJK nsv515137 9 29083808 29087924 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628016 S 1414 0 1 "" esv2421503 9 29084262 29086271 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5123377,essv5151669,essv5093546,essv5012414,essv5065386,essv5141985,essv5003272,essv5063691,essv5154508,essv5065644,essv5022764,essv5153310,essv5132342,essv5073230,essv5103401,essv5004102,essv5097316,essv5064228,essv5021942,essv5057295,essv5134645,essv5073707,essv5030654,essv5125050,essv5029630,essv5052789,essv5065766,essv5011647,essv5065990,essv5048974,essv5026068,essv5077246,essv5119012,essv5016655,essv5054364,essv5118260,essv5146470,essv5058995,essv5089916,essv5138474,essv5155377,essv5072273,essv5109780,essv5038192,essv5108758,essv5145074,essv5015204,essv5005331,essv5009784,essv5084108,essv5078142,essv5074075,essv5003669,essv5062906,essv5039188,essv5013861,essv5061131,essv5003690,essv5111820,essv5090216,essv5057325,essv5115459,essv5040519,essv5135118,essv5132498,essv5127348,essv5136159,essv5027111,essv5017354,essv5089695,essv5079419,essv5159033,essv5122727,essv5104633,essv5043728,essv5034493,essv5051074,essv5043395,essv5117490,essv5147947,essv5066718,essv5110121,essv5158665,essv5128635,essv5079117,essv5155337,essv5070252,essv5108850,essv5117133,essv5064449,essv5101073,essv5050026,essv5114614,essv5063304,essv5089501,essv5136485,essv5003451,essv5124920,essv5140459,essv5020540,essv5026892,essv5142863,essv5053092,essv5113451,essv5045092,essv5160691,essv5111413,essv5051519,essv5004995,essv5087074,essv5002523,essv5038636,essv5074350,essv5047926,essv5106332,essv5075107,essv5074471,essv5005450,essv5032517,essv5046155,essv5072270,essv5161229,essv5121631,essv5138377,essv5016876,essv5066390,essv5132776,essv5064365,essv5006466,essv5122448,essv5118393,essv5138736,essv5062816,essv5134493,essv5155084,essv5108793,essv5153164,essv5109431,essv5004714,essv5070069,essv5065120,essv5064458,essv5093663,essv5053966,essv5055120,essv5073734,essv5099240,essv5158596,essv5047619,essv5149542,essv5048968,essv5034886,essv5118706,essv5145493,essv5158807,essv5079944,essv5057767,essv5010966,essv5062753,essv5046108,essv5020172,essv5097393,essv5020987,essv5133610,essv5099671,essv5117639,essv5023137,essv5097420,essv5045304,essv5130605,essv5143684,essv5028447,essv5020387,essv5028132,essv5107744,essv5082242,essv5097465,essv5127154,essv5061941,essv5101536,essv5013490,essv5134732,essv5029957,essv5054875,essv5128535,essv5078270,essv5135492,essv5103120,essv5137398,essv5113030,essv5103033,essv5132654,essv5033037,essv5093202,essv5016198,essv5043550,essv5068977,essv5137968,essv5027656,essv5011739,essv5145257,essv5053133,essv5102087,essv5032146,essv5077596,essv5047021,essv5057289,essv5129241,essv5059315,essv5129713,essv5122313,essv5013752,essv5129563,essv5109707,essv5084570,essv5081804,essv5088099,essv5104406,essv5050152,essv5085227,essv5061095,essv5058073,essv5033495,essv5020103,essv5029646,essv5141377,essv5029518,essv5010190,essv5075186,essv5120887,essv5036929,essv5080787,essv5084280,essv5022557,essv5088508,essv5018199,essv5045413,essv5072182,essv5117457,essv5067776,essv5160263,essv5050238,essv5060667,essv5059522,essv5058832,essv5032553,essv5131162,essv5149650,essv5033449,essv5120073,essv5105597,essv5050887,essv5147810,essv5027653,essv5008544,essv5160124,essv5005223,essv5022126,essv5147345,essv5094892,essv5099799,essv5111858,essv5055545,essv5123623,essv5071082,essv5042293,essv5154971,essv5080228,essv5153235,essv5033440,essv5084584,essv5098476,essv5098003,essv5082188,essv5070769,essv5150241,essv5084892,essv5122605,essv5137186,essv5069159,essv5120952,essv5127884,essv5027580,essv5125485,essv5040216,essv5111408,essv5109324,essv5134699,essv5089220,essv5093324,essv5011671,essv5087250,essv5094261,essv5153393,essv5087474,essv5060616,essv5101968,essv5092781,essv5030160,essv5002975,essv5004634,essv5062527,essv5082309,essv5008495,essv5147668,essv5122922,essv5122276,essv5038910,essv5007135,essv5063833,essv5121023,essv5084448,essv5029543,essv5147238,essv5088879,essv5050172,essv5100307,essv5044662,essv5039567,essv5023820,essv5110224,essv5057691,essv5143085,essv5041876,essv5105389,essv5129368,essv5027594,essv5111440,essv5027599,essv5061086,essv5038009,essv5156713,essv5062009,essv5157869,essv5023747,essv5015444,essv5158272,essv5051653,essv5084386,essv5132278,essv5150085,essv5060241,essv5097431,essv5134052,essv5004167,essv5137848,essv5051351,essv5132845,essv5119086,essv5002424,essv5126701,essv5119721,essv5153448,essv5011607,essv5160904,essv5054646,essv5083869,essv5040135,essv5063366,essv5023755,essv5132925,essv5030474,essv5044023,essv5023123,essv5043755,essv5110032,essv5117361,essv5123128,essv5037256,essv5065857,essv5050015,essv5070654,essv5082090,essv5002087,essv5082139,essv5100163,essv5117833,essv5116847,essv5073892,essv5017930,essv5054324,essv5089901,essv5010246,essv5156982,essv5118883,essv5027362,essv5068134,essv5125716,essv5097195,essv5070394,essv5104455,essv5091655,essv5122965,essv5118308,essv5112272,essv5114367,essv5054207,essv5017563,essv5120469,essv5104943,essv5006494,essv5156907,essv5020175,essv5134821,essv5097833,essv5117883,essv5026689,essv5037389,essv5122129,essv5160254,essv5059668,essv5149734,essv5094398,essv5048903,essv5107984,essv5045706,essv5144500,essv5131793,essv5077155,essv5051982,essv5123803,essv5007373,essv5097603,essv5069203,essv5029744,essv5122673,essv5127081,essv5126802,essv5095927,essv5048650,essv5003630,essv5141741,essv5087817,essv5039577,essv5119238,essv5059818,essv5023618,essv5097696,essv5037623,essv5075172,essv5130953,essv5024813,essv5049564,essv5106944,essv5069729,essv5039650,essv5085290,essv5090456,essv5152348,essv5009979,essv5080637,essv5120564,essv5145969,essv5048714,essv5130627,essv5004876,essv5142670,essv5132975,essv5036233,essv5046314,essv5074190,essv5003008,essv5083888,essv5030027,essv5057053,essv5065127,essv5105352,essv5053820,essv5003805,essv5007619,essv5052869,essv5052693,essv5083871,essv5104422,essv5144876,essv5156664,essv5151210,essv5130185,essv5028461,essv5127603,essv5003807,essv5028312,essv5052525,essv5122032,essv5138809,essv5033292,essv5114380,essv5044886,essv5093871,essv5100848,essv5057237,essv5147615,essv5040010,essv5124235,essv5153881,essv5158307,essv5130019,essv5023850,essv5045105,essv5057226,essv5131797,essv5018164,essv5071587,essv5151390,essv5066794,essv5109272,essv5064744,essv5145817,essv5122682,essv5110314,essv5155730,essv5111567,essv5008228,essv5065019,essv5002175,essv5067888,essv5080771,essv5024862,essv5084810,essv5153437,essv5033916,essv5003683,essv5062263,essv5018922,essv5115148,essv5045312,essv5056839,essv5128685,essv5014341,essv5088463,essv5098786,essv5116826,essv5138398,essv5062662,essv5131174,essv5157415,essv5080486,essv5057579,essv5128150,essv5054280,essv5043573,essv5119018,essv5037109,essv5073388,essv5147724,essv5063960,essv5087082,essv5147411,essv5110174,essv5092002,essv5119365,essv5043955,essv5104708,essv5064199,essv5142579,essv5098429,essv5067561,essv5122094,essv5008218,essv5058760,essv5104968,essv5004807,essv5075569,essv5157032,essv5063250,essv5046237,essv5029191,essv5053261,essv5100925,essv5053513,essv5152852 M 1184 0 571 "" 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esv2422108 9 29084549 29087680 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5013961,essv5097335,essv5005202,essv5026629,essv5145813,essv5151101,essv5019679,essv5119496,essv5151172,essv5119589,essv5076190,essv5060462,essv5079818,essv5127099,essv5029439,essv5077811,essv5118170,essv5083836,essv5006889,essv5028939,essv5037283,essv5036283,essv5022695,essv5003449,essv5068811,essv5112701,essv5066059,essv5055393,essv5097951,essv5036952,essv5143782,essv5051620,essv5043860,essv5124077,essv5053841,essv5023526,essv5133613,essv5123283,essv5150360,essv5024456,essv5094492,essv5125641,essv5083906,essv5073127,essv5064007,essv5044168,essv5043208,essv5056409,essv5126477,essv5054448,essv5160247,essv5044778,essv5113889,essv5097608,essv5144393,essv5159565,essv5151173,essv5056062,essv5076153,essv5105221,essv5089114,essv5053858,essv5073618,essv5018324,essv5056427,essv5106511,essv5066509,essv5102562,essv5079268,essv5044449,essv5141684,essv5088454,essv5134228,essv5078331,essv5004853,essv5096695,essv5154994,essv5149471,essv5071782,essv5041253,essv5042203,essv5111283,essv5155396,essv5136493,essv5143836,essv5003856,essv5155198,essv5018753,essv5069216,essv5108663,essv5004319,essv5067013,essv5084847,essv5055869,essv5159127,essv5124893,essv5097527,essv5019989,essv5061307,essv5145871,essv5021472,essv5036032,essv5152765,essv5131692,essv5157126,essv5053849,essv5122787,essv5153321,essv5128141,essv5092148,essv5083198,essv5116741,essv5020244,essv5084594,essv5012649,essv5127196,essv5077208,essv5133571,essv5138601,essv5097188,essv5004779,essv5060837,essv5090284,essv5063569,essv5117507,essv5133535,essv5078414,essv5089853,essv5123950,essv5157538,essv5096076,essv5098162,essv5099127,essv5058257,essv5113591,essv5042854,essv5132927,essv5014998,essv5122774,essv5128046,essv5024239,essv5095755,essv5101964,essv5113224,essv5011575,essv5075077,essv5060586,essv5015527,essv5031639,essv5025063,essv5088270,essv5070807,essv5024530,essv5144794,essv5083408,essv5071250,essv5099121,essv5101195,essv5054604,essv5043263,essv5152386,essv5142525,essv5039634,essv5042235,essv5048972,essv5145943,essv5045037,essv5044139,essv5124623,essv5111802,essv5043211,essv5073416,essv5037533,essv5049923,essv5123596,essv5063860,essv5079007,essv5121707,essv5117975,essv5088904,essv5140143,essv5108054,essv5040545,essv5068745,essv5053785,essv5127768,essv5033920,essv5073581,essv5152308,essv5054076,essv5106380,essv5091976,essv5031817,essv5115724,essv5121285,essv5054824,essv5080490,essv5092905,essv5107098,essv5071547,essv5151927,essv5109916,essv5127119,essv5091794,essv5124396,essv5072532,essv5024263,essv5038620,essv5017877,essv5125013,essv5155153,essv5079653,essv5146611,essv5075984,essv5148959,essv5063659,essv5043732,essv5148143,essv5109314,essv5085972,essv5151707,essv5156082,essv5122693,essv5069754,essv5067004,essv5012546,essv5106581,essv5016857,essv5015775,essv5046090,essv5096264,essv5103068,essv5013624,essv5004393,essv5137313,essv5105987,essv5060659,essv5113367,essv5140824,essv5078122,essv5138895,essv5003011,essv5052569,essv5043820,essv5069958,essv5069114,essv5152946,essv5013277,essv5139866,essv5063480,essv5090518,essv5136884,essv5104639,essv5110809,essv5017325,essv5135896,essv5103265,essv5044235,essv5048186,essv5158380,essv5015340,essv5044955,essv5006878,essv5088746,essv5142936,essv5015136,essv5056328,essv5147466,essv5115598,essv5047229,essv5088592,essv5158738,essv5043437,essv5146668,essv5023335,essv5154707,essv5062767,essv5113768,essv5098655,essv5009305,essv5079279,essv5063894,essv5054868,essv5112618,essv5148631,essv5077156,essv5074290,essv5080051,essv5098115,essv5110094,essv5078317,essv5158855,essv5116850,essv5065781,essv5129550,essv5012306,essv5051097,essv5041257,essv5024628,essv5159623,essv5107747,essv5034699,essv5049773,essv5033288,essv5102385,essv5080014,essv5020021,essv5154421,essv5143454,essv5108471,essv5003278,essv5033307,essv5090470,essv5023962,essv5014632,essv5049437,essv5052089,essv5076835,essv5156509,essv5114451,essv5096023,essv5009694,essv5056491,essv5046034,essv5051481,essv5120879,essv5082101,essv5142499,essv5019157,essv5095505,essv5045207,essv5021948,essv5025495,essv5154837,essv5019699,essv5027523,essv5035892,essv5055469,essv5143823,essv5041649,essv5009003,essv5130815,essv5126336,essv5101955,essv5069705,essv5110740,essv5043303,essv5127362,essv5029734,essv5093823,essv5036365,essv5054700,essv5157997,essv5021507,essv5148880,essv5132145,essv5102564,essv5080665,essv5056017,essv5069016,essv5092587,essv5154948,essv5088752,essv5159317,essv5071874,essv5017001,essv5015478,essv5019399,essv5022690,essv5009938,essv5030013,essv5151718,essv5033241,essv5159639,essv5029676,essv5002958,essv5067345,essv5103010,essv5054898,essv5112879,essv5036083,essv5015912,essv5008559,essv5055417,essv5099873,essv5033859,essv5082301,essv5070111,essv5104846,essv5063377,essv5017697,essv5096897,essv5058427,essv5114766,essv5066755,essv5033075,essv5037121,essv5090227,essv5131799,essv5011738,essv5031675,essv5014658,essv5076115,essv5137795,essv5138251,essv5142352,essv5137257,essv5086573,essv5082835,essv5137204,essv5021428,essv5052395,essv5145864,essv5098246,essv5098694,essv5033279,essv5078093,essv5142254,essv5064632,essv5135882,essv5004116,essv5151639,essv5127420,essv5118890,essv5114527,essv5002739,essv5124213,essv5008392,essv5126885,essv5020029,essv5078998,essv5121783,essv5049822,essv5114689,essv5096384,essv5126078,essv5020866,essv5005360,essv5010923,essv5141194,essv5135613,essv5066489,essv5066066,essv5083016,essv5055230,essv5068297,essv5041377,essv5078404,essv5003373,essv5016927,essv5020250,essv5040496,essv5086071,essv5108935,essv5052799,essv5089288,essv5071161,essv5014359,essv5054998,essv5097325,essv5013350,essv5080317,essv5126707,essv5051644,essv5092011,essv5048643,essv5093048,essv5089868,essv5057414,essv5016507,essv5034366,essv5154057,essv5103713,essv5007101,essv5011674,essv5026070,essv5093400,essv5052770,essv5067285,essv5146845,essv5126335,essv5127443,essv5091872,essv5018794,essv5130684,essv5062817,essv5061719,essv5094763,essv5049705,essv5039079,essv5030907,essv5067661,essv5131287,essv5012439,essv5144068,essv5002618,essv5085519,essv5039217,essv5098958,essv5087483,essv5047610,essv5009984,essv5153803,essv5112968,essv5050889,essv5071864,essv5126503,essv5143744,essv5021219,essv5141918,essv5060141,essv5067758,essv5030030,essv5019775,essv5044331,essv5114246,essv5008352,essv5141697,essv5105403,essv5012715,essv5053099,essv5084548,essv5070246,essv5039600,essv5042727,essv5060582,essv5134760,essv5076724,essv5158440,essv5078823,essv5144965,essv5099610,essv5098242,essv5066694,essv5119270,essv5054236,essv5097204,essv5123629,essv5015982,essv5102008,essv5120623,essv5010564,essv5011651,essv5046843,essv5013945,essv5152564,essv5049091,essv5117459,essv5011948,essv5018381,essv5060772,essv5114497,essv5086772,essv5123255,essv5116560,essv5051587,essv5084443,essv5050333 M 1184 0 558 "" NA06985,NA06991,NA06993,NA07000,NA07051,NA07055,NA07056,NA07347,NA07435,NA10835,NA10837,NA10838,NA10840,NA10843,NA10846,NA10847,NA10853,NA10855,NA11832,NA11840,NA11843,NA11894,NA11920,NA11992,NA11993,NA12003,NA12043,NA12056,NA12144,NA12146,NA12239,NA12248,NA12249,NA12272,NA12273,NA12283,NA12286,NA12335,NA12340,NA12341,NA12342,NA12375,NA12376,NA12383,NA12386,NA12399,NA12546,NA12708,NA12750,NA12763,NA12766,NA12776,NA12801,NA12812,NA12817,NA12827,NA12828,NA12865,NA12874,NA12875,NA12877,NA12878,NA12889,NA12891,NA17962,NA17966,NA17969,NA17970,NA17972,NA17974,NA17975,NA17976,NA17977,NA17980,NA17981,NA17983,NA17989,NA17995,NA17996,NA17997,NA17998,NA18101,NA18105,NA18108,NA18109,NA18117,NA18118,NA18125,NA18127,NA18131,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18143,NA18146,NA18147,NA18149,NA18150,NA18151,NA18154,NA18155,NA18157,NA18159,NA18161,NA18166,NA18486,NA18497,NA18498,NA18499,NA18500,NA18501,NA18504,NA18508,NA18509,NA18511,NA18517,NA18518,NA18519,NA18524,NA18526,NA18529,NA18534,NA18537,NA18543,NA18544,NA18546,NA18552,NA18555,NA18557,NA18558,NA18559,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18608,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18635,NA18636,NA18637,NA18639,NA18640,NA18642,NA18643,NA18645,NA18670,NA18674,NA18682,NA18702,NA18704,NA18740,NA18745,NA18747,NA18749,NA18757,NA18853,NA18854,NA18859,NA18868,NA18871,NA18872,NA18873,NA18874,NA18910,NA18913,NA18917,NA18923,NA18925,NA18930,NA18939,NA18940,NA18942,NA18943,NA18945,NA18946,NA18947,NA18948,NA18952,NA18953,NA18955,NA18956,NA18960,NA18961,NA18963,NA18965,NA18966,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA19000,NA19001,NA19002,NA19007,NA19010,NA19031,NA19035,NA19036,NA19041,NA19054,NA19056,NA19059,NA19060,NA19063,NA19064,NA19065,NA19066,NA19070,NA19074,NA19075,NA19084,NA19085,NA19086,NA19087,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19107,NA19108,NA19113,NA19114,NA19115,NA19118,NA19119,NA19120,NA19128,NA19130,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19144,NA19147,NA19148,NA19149,NA19150,NA19171,NA19174,NA19179,NA19182,NA19189,NA19191,NA19192,NA19194,NA19199,NA19201,NA19202,NA19203,NA19206,NA19209,NA19210,NA19211,NA19213,NA19221,NA19223,NA19224,NA19225,NA19226,NA19238,NA19239,NA19240,NA19247,NA19248,NA19256,NA19257,NA19258,NA19310,NA19311,NA19319,NA19321,NA19324,NA19327,NA19328,NA19352,NA19360,NA19372,NA19373,NA19376,NA19381,NA19382,NA19385,NA19390,NA19396,NA19397,NA19398,NA19399,NA19404,NA19430,NA19431,NA19435,NA19438,NA19439,NA19440,NA19444,NA19445,NA19451,NA19466,NA19467,NA19468,NA19471,NA19650,NA19652,NA19654,NA19656,NA19657,NA19659,NA19663,NA19665,NA19669,NA19678,NA19682,NA19683,NA19703,NA19705,NA19712,NA19716,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19747,NA19749,NA19755,NA19760,NA19770,NA19771,NA19772,NA19773,NA19775,NA19777,NA19778,NA19782,NA19818,NA19828,NA19901,NA19909,NA19916,NA19917,NA19918,NA19921,NA19982,NA20126,NA20128,NA20129,NA20279,NA20289,NA20295,NA20300,NA20332,NA20334,NA20335,NA20336,NA20337,NA20347,NA20348,NA20359,NA20360,NA20505,NA20512,NA20515,NA20516,NA20519,NA20520,NA20522,NA20527,NA20528,NA20530,NA20534,NA20541,NA20542,NA20543,NA20581,NA20588,NA20589,NA20755,NA20758,NA20761,NA20765,NA20772,NA20774,NA20786,NA20787,NA20804,NA20815,NA20828,NA20847,NA20850,NA20851,NA20861,NA20862,NA20872,NA20874,NA20877,NA20883,NA20884,NA20887,NA20890,NA20891,NA20896,NA20898,NA20899,NA20900,NA20901,NA20902,NA20907,NA20908,NA20910,NA21088,NA21092,NA21094,NA21098,NA21104,NA21107,NA21111,NA21116,NA21117,NA21137,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21307,NA21313,NA21352,NA21355,NA21357,NA21359,NA21362,NA21364,NA21367,NA21371,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21415,NA21417,NA21418,NA21421,NA21423,NA21424,NA21441,NA21442,NA21451,NA21454,NA21457,NA21478,NA21479,NA21480,NA21509,NA21513,NA21514,NA21521,NA21528,NA21529,NA21577,NA21578,NA21582,NA21599,NA21600,NA21601,NA21611,NA21613,NA21617,NA21619,NA21620,NA21631,NA21635,NA21636,NA21647,NA21648,NA21678,NA21682,NA21683,NA21685,NA21693,NA21716,NA21717,NA21718,NA21719,NA21723,NA21738,NA21740,NA21768,NA21776,NA21825 nsv442541 9 29084549 29087680 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv508540 9 29086927 29095277 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622608,nssv618847 M 4 0 2 "" NA10860,NA18994 esv267676 9 29093264 29093385 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497236,essv2499935,essv2496087,essv2501639,essv2503125,essv2497970,essv2503545 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18552,NA18562,NA18603,NA18608,NA18943,NA18945,NA18947 esv1000979 9 29101858 29101858 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583309 S 3 1 0 "" HuRef dgv2304e1 9 29125948 29299828 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16310,esv287 M 271 0 0 "" NA19193 nsv8431 9 29127566 29135977 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20067 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv517063 9 29152253 31265688 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659679,nssv653199,nssv701983,nssv699166,nssv695271,nssv671424,nssv693653,nssv670977,nssv689991,nssv687761,nssv658084,nssv689793,nssv700363,nssv683908,nssv657333,nssv652644,nssv703846,nssv660465,nssv687018,nssv684204,nssv654175,nssv703368,nssv655393,nssv677997,nssv660606,nssv670672,nssv653877,nssv672607,nssv689162,nssv663270,nssv679312,nssv672881,nssv670524,nssv687312,nssv686214,nssv704262,nssv693345,nssv655492,nssv693203,nssv666272,nssv653564,nssv690362,nssv654557,nssv685678,nssv663099,nssv696817,nssv671733,nssv697392,nssv689694,nssv667103,nssv685611,nssv653380,nssv669083,nssv674502 M 2026 10 44 "" nsv466359 9 29208907 30133230 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541919 S 1557 1 0 "" 1780854339_A nsv892920 9 29248978 29383359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521666 S 6533 0 1 "" SP52523 esv29768 9 29249551 29250715 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21026 S 451 0 2 "" NA18907,NA19108 esv271381 9 29250333 29253909 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510617,essv2504100,essv2509727,essv2496311,essv2508949,essv2493934,essv2509198,essv2504789,essv2512006,essv2501907,essv2498076,essv2502007 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505,NA18508,NA18511,NA18522,NA18871,NA18909,NA19099,NA19238,NA19239,NA19240,NA19257 esv273224 9 29250333 29253913 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580682,essv2579156,essv2579638 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv892921 9 29308695 29383359 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586960 S 6533 1 0 "" IS37986 nsv6518 9 29340896 29371516 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5153 S 9 1 0 "" NA19129 nsv831534 9 29354010 29517896 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447616,nssv1447614,nssv1447615 M 95 0 3 "" nsv892922 9 29364906 29421179 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591113 S 6533 0 1 "" IS38637 nsv892923 9 29364906 29476705 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556287,nssv1538360 M 6533 0 2 "" MS13712,MS21891 esv1684752 9 29441842 29442031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793373 S 2 0 1 "" HuRef nsv892924 9 29447656 29521579 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542544 S 6533 1 0 "" MS15782 nsv892925 9 29465051 29546577 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586961 S 6533 1 0 "" IS37986 nsv466360 9 29546577 29581709 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541920 S 1557 0 1 "" NINDS_189 nsv892926 9 29547353 29595173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545506 S 6533 0 1 "" MS16821 nsv892927 9 29568107 29616137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527569 S 6533 0 1 "" SP58537 esv25507 9 29581826 29582351 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15546 S 451 0 1 "" NA19108 esv2653917 9 29613907 29615537 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322381 S 1 0 1 "" NA18507 esv2144748 9 29614506 29615220 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4867111 S 1 0 1 "" NA18507 esv4620 9 29614649 29615164 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27061 S 1 0 1 Single Asian sample YH "" YH esv1008779 9 29614695 29615015 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567915 S 3 0 1 "" HuRef esv1012809 9 29614709 29615030 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862295 S 2 0 1 "" HuRef esv6125 9 29614720 29615024 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28566 S 1 0 1 "" SJK nsv892928 9 29622345 29671641 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594005 S 6533 1 0 "" IS39660 nsv892929 9 29645591 29926198 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542545 S 6533 1 0 "" MS15782 nsv892930 9 29659331 29736545 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558758 S 6533 0 1 "" MS23531 nsv892931 9 29683569 30165618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586962 S 6533 1 0 "" IS37986 dgv2305e1 9 29784954 30063518 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv599,essv20063 M 271 0 0 "" NA07048 nsv466362 9 29806259 29843258 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541922 S 1557 0 1 "" NINDS_46 dgv8146n71 9 29817089 29920098 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892933,nsv892932 M 6533 0 3 "" IS30363,MS16361,MS20753 nsv8432 9 29849162 29850951 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20061 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv510581 9 29855030 29864568 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622390 S 4 0 0 "" NA10860 esv1256807 9 29857865 29857865 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860173 S 2 1 0 "" HuRef esv1223979 9 29857898 29857898 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3762103 S 2 1 0 "" HuRef esv1694760 9 29857917 29857917 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821690 S 2 1 0 "" HuRef nsv507511 9 29865749 29871749 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623073 S 4 1 0 "" NA18994 essv19089 9 29874301 30063518 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07055 nsv437085 9 29911210 29921748 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466966 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv8433 9 29912912 29993420 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17913 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv438100 9 29914682 29976250 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470091,nssv470093,nssv470089,nssv470090,nssv470092 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA07048,NA07055 nsv471297 9 29917527 29923213 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545845 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01412 dgv2306e1 9 29918566 29999947 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24117,essv23638 M 271 0 0 "" NA07048,NA07055 dgv260e55 9 29918676 29981403 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv34837,esv35153 M 771 0 2 "" NA07048,NA07055 nsv437086 9 29928824 29979597 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466967 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 dgv8147n71 9 29933652 29954976 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892934,nsv892935 M 6533 0 2 "" IS30522,MS12266 dgv8148n71 9 29933652 30165618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892938,nsv892936,nsv892937 M 6533 0 4 "" IS31179,IS36219,IS37999,IS41043 esv2752297 9 29933700 30005536 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982136,essv6982137 M 771 0 1 "" BEC_522 dgv935n27 9 29935574 29952398 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466363,nsv466364 M 1557 0 2 "" 1780862042_A,1780862466_A nsv471298 9 29946916 29953072 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545846 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00984 nsv818696 9 29949547 29952701 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415675 S 112 0 1 "" NA10835 dgv8149n71 9 29949547 29975815 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892941,nsv892939,nsv892940 M 6533 0 3 "" IS31302,MS10802,MS20872 nsv892942 9 29949547 30009704 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568148 S 6533 0 1 "" IS31205 nsv471299 9 29950794 29999443 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545847 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01226 dgv936n27 9 29976250 30043820 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466366,nsv466365 M 1557 0 2 "" 1780862574_A,HGDP00146 nsv892943 9 29976250 30063355 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499173 S 6533 0 1 "" SP50118 dgv8150n71 9 29976250 30144925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892946,nsv892944,nsv892945 M 6533 0 3 "" IS30522,IS31587,IS40067 nsv471300 9 29979597 30030352 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545848,nssv545849 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00591,HGDP00863 nsv824905 9 29985944 29986400 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425921 S 31 1 0 "" AK4 esv1237506 9 29994922 29994992 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3825743 S 2 0 1 "" HuRef nsv892947 9 30007230 30133230 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542546 S 6533 1 0 "" MS15782 nsv471301 9 30043820 30144925 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545850 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01033 nsv892948 9 30047012 30144925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550266 S 6533 0 1 "" MS18387 nsv892949 9 30047012 30667333 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572943 S 6533 0 1 "" IS33196 esv28723 9 30052404 30053096 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21223 S 451 0 1 "" NA12287 nsv466367 9 30077981 30148784 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541927 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01033 dgv8151n71 9 30105050 30272776 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892950,nsv892952 M 6533 0 2 "" IS31145,IS37044 nsv892951 9 30105050 30388351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556625 S 6533 0 1 "" MS22104 esv34879 9 30107312 30388367 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988338,essv6980968,essv6980967,essv6985450 M 771 1 0 "" NA19154 nsv466368 9 30165446 30262267 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541928 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00971 nsv892953 9 30165618 30262267 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526661 S 6533 1 0 "" SP57700 esv1509911 9 30195727 30195727 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363603 S 2 1 0 "" HuRef dgv2307e1 9 30199650 30421507 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10205,essv11709,esv633 M 271 0 0 "" NA19152,NA19154 nsv892954 9 30200505 30388351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568446 S 6533 0 1 "" IS31285 nsv892955 9 30223724 30266852 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583187 S 6533 1 0 "" IS36315 esv5611 9 30225935 30226014 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28052 S 1 1 0 "" SJK esv35141 9 30238450 30452800 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985445,essv6985444,essv6980949,essv6980948,essv6980947 M 771 1 0 "" NA19152 nsv471302 9 30241633 30368771 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545851 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01265 esv23544 9 30243807 30385245 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18147 S 451 1 0 "" NA19190 dgv2308e1 9 30245385 30379493 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9491,essv12427 M 271 0 0 "" NA19152,NA19154 nsv466369 9 30247784 30368771 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541929 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01265 esv271707 9 30249787 30249872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513889 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv892956 9 30250156 30461240 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535113,nssv1544986,nssv1530024,nssv1561175,nssv1536577 M 6533 0 5 "" MS10174,MS12018,MS12856,MS16621,MS24872 nsv831535 9 30286191 30435723 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447618 S 95 1 0 "" nsv892957 9 30316115 30364010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583900 S 6533 0 1 "" IS36722 nsv892958 9 30316115 30388351 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579416,nssv1585026,nssv1570502 M 6533 0 3 "" IS32150,IS35100,IS37226 nsv831538 9 30325017 30485819 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447619 S 95 0 1 "" nsv892959 9 30328229 30388351 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521949,nssv1555410 M 6533 2 0 "" MS21315,SP52651 nsv512094 9 30333520 30336568 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624650 S 1 0 1 "" 1 esv2014107 9 30335602 30336271 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4575164 S 1 0 1 "" NA18507 esv993791 9 30335764 30336867 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564258 S 3 0 1 "" HuRef esv1646850 9 30335789 30336107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3889356 S 2 0 1 "" HuRef esv2752298 9 30351738 30651612 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984188,essv6984187,essv6989928 M 771 0 1 "" BEC_799 dgv8152n71 9 30352055 30696228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892962,nsv892960,nsv892963 M 6533 0 5 "" IS41909,MS15515,MS17231,MS25038,SP56343 nsv892961 9 30364647 30667333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542547 S 6533 1 0 "" MS15782 nsv8434 9 30369742 30372399 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20127 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 esv2752299 9 30388367 30555386 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983331,essv6983332,essv6989772 M 771 0 1 "" BEC_639 nsv6519 9 30400866 30434956 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8600 S 9 1 0 "" NA12156 dgv8153n71 9 30424989 30667333 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892964,nsv892967 M 6533 0 2 "" MS18132,MS18978 esv269122 9 30442030 30442144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496712,essv2500906,essv2506869,essv2499169,essv2509526 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18856,NA19102,NA19114,NA19129 nsv892965 9 30463325 30545391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513233 S 6533 0 1 "" SP55698 dgv8154n71 9 30463325 30635432 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892968,nsv892966 M 6533 0 2 "" IS36141,IS39923 esv5373 9 30481242 30481651 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27814 S 1 0 1 Single Asian sample YH "" YH esv1001850 9 30481283 30481593 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583868 S 3 0 1 "" HuRef dgv264n6 9 30481284 30481609 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv415417,nsv415675 M 24 "" esv6852 9 30481286 30481593 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29293 S 1 0 1 "" SJK esv1325712 9 30481298 30481609 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3598472 S 2 0 1 "" HuRef esv2565149 9 30485772 30485973 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5351587 S 1 1 0 "" NA18507 nsv892969 9 30510322 30838638 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586963 S 6533 1 0 "" IS37986 nsv512095 9 30533869 30537771 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624651 S 1 0 1 "" 1 dgv8155n71 9 30536359 30667333 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892971,nsv892970 M 6533 0 3 "" IS33616,IS37226,MS15312 esv2752300 9 30541595 30582305 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980793,essv6987850,essv6980794 M 771 0 1 "" BEC_158 nsv892972 9 30594262 30644630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502656 S 6533 0 1 "" SP51309 dgv8156n71 9 30594262 30696228 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892975,nsv892974,nsv892973 M 6533 0 3 "" IS35510,IS37744,MS20671 dgv8157n71 9 30609132 30703637 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892977,nsv892982,nsv892976,nsv892981,nsv892978 M 6533 0 22 "" IS30294,IS32803,IS33676,IS33839,IS35102,IS35403,IS37172,IS37467,IS37974,IS38106,IS39999,IS40298,IS41807,MS12606,MS13177,MS15767,MS17883,MS18332,MS20741,MS24662,MS24987,MS25564 dgv8158n71 9 30609132 30732735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv892979,nsv892983 M 6533 0 2 "" SP51007,SP56878 nsv466371 9 30620020 30644630 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541930 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00183 nsv892980 9 30620020 30679220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574176 S 6533 0 1 "" IS33522 nsv471303 9 30620020 30688142 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545852 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00681 nsv892984 9 30639713 30772465 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532047 S 6533 0 1 "" MS10699 esv2594785 9 30664374 30664728 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283546 S 1 1 0 "" NA18507 esv271926 9 30664403 30665121 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510262,essv2495427,essv2505078,essv2508045,essv2508593,essv2503805,essv2511780,essv2496382,essv2496228,essv2493647,essv2494881,essv2509058,essv2494569,essv2500020,essv2499880,essv2507600,essv2512658,essv2508139,essv2508611,essv2512921,essv2505358,essv2498496,essv2494054,essv2513524,essv2495721,essv2511588,essv2497917,essv2503538,essv2500515,essv2503729,essv2500811,essv2506860,essv2498985,essv2510955,essv2493550,essv2498786,essv2510395,essv2512166,essv2501883,essv2498183,essv2502151,essv2499600 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA10851,NA11919,NA11995,NA12045,NA12717,NA12761,NA18499,NA18510,NA18511,NA18517,NA18520,NA18522,NA18550,NA18558,NA18562,NA18576,NA18577,NA18579,NA18592,NA18609,NA18853,NA18858,NA18871,NA18907,NA18916,NA18940,NA18945,NA18947,NA18956,NA18960,NA18973,NA19102,NA19114,NA19116,NA19137,NA19138,NA19172,NA19238,NA19239,NA19240,NA19257 esv273390 9 30664424 30665150 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580596,essv2579386,essv2579628 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv831539 9 30686205 30839691 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447621,nssv1447620 M 95 2 0 "" esv268297 9 30724650 30724984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565870,essv2521253,essv2556665,essv2531727,essv2577326,essv2576910,essv2550536,essv2525501,essv2535457,essv2544229,essv2529219,essv2564446,essv2553889,essv2559733,essv2564123,essv2554981,essv2530870,essv2561857,essv2547101,essv2557002,essv2551728,essv2532065,essv2538917,essv2561516,essv2553111,essv2539595,essv2563893,essv2553118,essv2541914,essv2550926,essv2569173,essv2543513,essv2562399,essv2573058,essv2577064,essv2525769,essv2526784,essv2574775,essv2568675,essv2560221,essv2549669,essv2545817,essv2574455,essv2551617,essv2533137,essv2525095 M 157 46 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA11829,NA11894,NA11994,NA12006,NA12043,NA12154,NA12155,NA12156,NA12249,NA12414,NA12749,NA12751,NA12763,NA12776,NA12828,NA12872,NA12873,NA12874,NA12892,NA18501,NA18504,NA18505,NA18519,NA18523,NA18542,NA18563,NA18603,NA18605,NA18856,NA18858,NA18861,NA18870,NA18909,NA18942,NA18970,NA18980,NA19005,NA19138,NA19147,NA19190,NA19225,NA19239,NA19240,NA19257 esv272714 9 30724650 30724984 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584021,essv2584637,essv2583803 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv993832 9 30755071 30755566 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587285 S 3 0 1 "" HuRef nsv892985 9 30758128 30969640 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542548 S 6533 1 0 "" MS15782 dgv2309e1 9 30854032 31028881 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24299,esv31 M 271 0 0 "" NA10856 esv24080 9 30898182 30899486 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9963 S 451 0 4 "" NA18508,NA18517,NA19108,NA19147 nsv8437 9 30914002 30921014 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19662 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18502 nsv819125 9 30934371 30942428 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419854 S 2 1 0 "" AK1 nsv892986 9 30960211 31187972 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535607 S 6533 1 0 "" MS12281 nsv892987 9 30964923 31013908 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586964 S 6533 1 0 "" IS37986 esv269116 9 30979580 30979951 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512595,essv2506885,essv2499080 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA19102,NA19114 nsv892988 9 30994169 31106343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542549 S 6533 1 0 "" MS15782 nsv824906 9 31022891 31023403 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432220 S 31 1 0 "" AK20 nsv415723 9 31058386 31060926 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434301 M 24 "" nsv892989 9 31115519 31379896 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1523140 S 6533 0 1 "" SP53705 nsv892990 9 31187972 31517272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524478 S 6533 0 1 "" SP55041 esv1338761 9 31229842 31230052 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992198 S 2 0 1 "" HuRef esv2563557 9 31274815 31276394 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270192 S 1 0 1 "" NA18507 nsv507512 9 31275902 31281902 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621941 S 4 1 0 "" NA10860 dgv61n50 9 31281025 31282667 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512096,nsv511427 M 1 0 1 "" 1 esv26879 9 31281284 31282768 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18696 S 451 8 2 "" NA11894,NA12156,NA12749,NA12776,NA15510,NA18517,NA18858,NA18909,NA19099,NA19240 nsv821311 9 31281284 31282768 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420805 S 1 0 1 "" NA10851 esv3787 9 31281319 31282741 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26228 S 1 0 1 Single Asian sample YH "" YH esv8545 9 31281357 31282675 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30986 S 1 0 1 "" SJK nsv892991 9 31337460 31659518 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586965 S 6533 1 0 "" IS37986 nsv892992 9 31409228 31493145 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564232 S 6533 0 1 "" IS30189 nsv892993 9 31429249 31540664 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574735 S 6533 0 1 "" IS33616 nsv892994 9 31429249 31781211 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558715 S 6533 0 1 "" MS23495 nsv522186 9 31462633 31469005 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694959 S 2026 0 1 "" nsv508541 9 31520964 31539050 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617369 S 4 0 1 "" CHM nsv515810 9 31536488 31551234 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681990,nssv664841 M 2026 2 0 "" dgv8159n71 9 31563759 31960850 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv892995,nsv892996 M 6533 4 0 "" MS13762,MS18436,MS20860,MS20996 esv1122850 9 31610710 31610710 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290703 S 2 1 0 "" HuRef nsv892997 9 31827334 32127678 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586966 S 6533 1 0 "" IS37986 nsv466373 9 31832562 31882857 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541932 S 1557 0 1 "" 1780854449_A nsv520931 9 31858612 31862062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677909,nssv687555 M 2026 0 2 "" nsv892998 9 31869919 31994571 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521408 S 6533 0 1 "" SP52369 nsv892999 9 31960850 32008100 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542550 S 6533 1 0 "" MS15782 esv2450358 9 31967917 31968925 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294910 S 1 1 0 "" NA18507 nsv525783 9 31995136 31997381 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701959 S 2026 0 1 "" nsv510191 9 32004707 32010707 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624080 S 4 0 1 "" NA18994 esv2752305 9 32010350 32128500 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981059,essv6981060,essv6985462 M 771 1 0 "" BEC_345 esv33080 9 32034918 32055694 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99933 S 51 0 1 "" 22086 nsv527469 9 32050229 32051243 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703912 S 2026 0 1 "" esv269044 9 32051474 32051559 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518742 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 esv29034 9 32056344 32056839 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9943 S 451 1 0 "" NA19129 esv273822 9 32070505 32070793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580852,essv2578874,essv2579438 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270127 9 32070517 32070790 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570816,essv2545570,essv2531801,essv2521852,essv2576776,essv2544489,essv2547167,essv2558695,essv2564729,essv2576313,essv2578552,essv2550046,essv2558882,essv2569854,essv2561624,essv2542630,essv2564868,essv2522214,essv2566018,essv2532885,essv2563783,essv2535844,essv2559291,essv2568981,essv2543763,essv2556148,essv2528030,essv2539275,essv2533603,essv2531293,essv2573467,essv2575194,essv2574602,essv2530287,essv2545047,essv2571429,essv2546043,essv2574437,essv2551428,essv2536154,essv2549059,essv2533093,essv2554566,essv2563479,essv2557961 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA10847,NA10851,NA11993,NA12003,NA12006,NA12144,NA12154,NA12414,NA12717,NA12750,NA12751,NA12814,NA18510,NA18511,NA18516,NA18520,NA18523,NA18550,NA18558,NA18571,NA18572,NA18576,NA18603,NA18608,NA18638,NA18861,NA18870,NA18871,NA18907,NA18912,NA18944,NA18961,NA18964,NA19102,NA19138,NA19141,NA19172,NA19238,NA19239,NA19240,NA19257 nsv517678 9 32071117 32077232 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663166,nssv683501,nssv682648,nssv659006,nssv652811 M 2026 5 0 "" nsv512986 9 32082578 32083036 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625641 S 1 1 0 "" 1 dgv2310e1 9 32085083 32107175 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5847,esv1020 M 271 0 0 "" NA18524 dgv8160n71 9 32087906 32118828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893001,nsv893004,nsv893003,nsv893002,nsv893000 M 6533 0 84 "" IS38226,MS10994,MS12196,MS12946,MS14281,MS14359,MS15475,MS16066,MS16898,MS18209,MS20510,MS21721,MS21820,MS22382,MS25853,MS25868,MS25917,MS25966,MS26137,SP50082,SP50085,SP50528,SP50631,SP50652,SP50796,SP50830,SP50855,SP51007,SP51054,SP51118,SP51226,SP51260,SP51293,SP51436,SP51506,SP52008,SP52114,SP52545,SP52734,SP52858,SP52908,SP53539,SP53569,SP53601,SP53685,SP53998,SP54002,SP54226,SP54356,SP54406,SP54532,SP54607,SP54704,SP54750,SP54774,SP54875,SP55021,SP55028,SP55349,SP55456,SP55610,SP55699,SP55856,SP56100,SP56108,SP56207,SP56400,SP56518,SP56734,SP56937,SP57190,SP57226,SP57297,SP57449,SP57570,SP57589,SP58047,SP58062,SP58556,SP80980,SP80988,SP80994,SP81454,SP81541 dgv8161n71 9 32094280 32118828 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893006,nsv893008,nsv893007,nsv893005 M 6533 0 4 "" MS15727,SP55131,SP55265,SP58208 nsv525245 9 32094829 32111137 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701336 S 2026 0 1 "" esv1993820 9 32097215 32097619 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798474 S 1 0 1 "" NA18507 esv1177802 9 32097352 32097420 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3614702 S 2 0 1 "" HuRef nsv416994 9 32097359 32097426 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435572 M 24 "" dgv937n27 9 32100072 32115244 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466374,nsv466375 M 1557 0 2 "" HGDP01101,HGDP01181 esv271694 9 32102162 32102337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511182,essv2504442,essv2494267,essv2498559,essv2493133,essv2505613,essv2504759,essv2506681 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA11993,NA18502,NA18858,NA18951,NA19005,NA19099,NA19108 nsv893009 9 32200711 32314895 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586967 S 6533 1 0 "" IS37986 nsv466376 9 32214466 32273644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541935 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00687 nsv524698 9 32247426 32249801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700678 S 2026 0 1 "" nsv893010 9 32252917 32366618 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542551 S 6533 1 0 "" MS15782 dgv483n21 9 32294303 32309634 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525811,nsv522961 M 2026 0 2 "" nsv519222 9 32295020 32295904 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694317 S 2026 0 1 "" nsv415870 9 32305154 32305380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434448 M 24 "" esv5941 9 32305156 32305377 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28382 S 1 0 1 "" SJK esv1762044 9 32305161 32305388 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4154438 S 2 0 1 "" HuRef esv1392300 9 32350271 32350271 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280306 S 2 1 0 "" HuRef nsv521047 9 32399046 32399442 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687683,nssv681029,nssv680687 M 2026 0 3 ACO1 nsv893011 9 32407891 32457129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586968 S 6533 1 0 ACO1,DDX58 IS37986 nsv519447 9 32446656 32447558 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693754,nssv656223 M 2026 0 2 DDX58 esv273272 9 32453862 32454092 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580216,essv2580380,essv2580026,essv2580945,essv2579014,essv2579486 M 7 6 0 Samples from several populations that are part of the HapMap project. DDX58 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv270911 9 32453876 32454100 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565814,essv2575844,essv2540922,essv2521205,essv2526313,essv2542419,essv2536458,essv2556560,essv2568214,essv2570713,essv2548389,essv2521841,essv2576878,essv2550716,essv2535192,essv2554142,essv2544454,essv2552270,essv2547403,essv2529400,essv2558336,essv2564701,essv2577745,essv2559554,essv2565253,essv2563954,essv2561904,essv2537368,essv2528201,essv2546904,essv2520894,essv2557428,essv2557266,essv2551949,essv2569291,essv2578669,essv2558923,essv2539197,essv2569780,essv2527180,essv2561464,essv2544583,essv2562947,essv2523558,essv2552876,essv2541380,essv2538230,essv2542799,essv2540596,essv2524456,essv2564898,essv2534527,essv2561089,essv2539795,essv2549533,essv2519550,essv2522154,essv2566249,essv2530951,essv2532872,essv2567700,essv2528927,essv2567390,essv2541726,essv2570090,essv2563790,essv2553381,essv2535605,essv2572552,essv2559366,essv2566989,essv2542029,essv2550859,essv2569110,essv2543558,essv2556210,essv2528086,essv2562189,essv2539455,essv2534098,essv2578415,essv2573146,essv2555357,essv2533740,essv2555590,essv2567124,essv2527434,essv2557686,essv2555879,essv2534421,essv2522432,essv2531607,essv2573367,essv2543152,essv2572076,essv2525694,essv2526837,essv2529421,essv2575570,essv2538849,essv2560534,essv2523968,essv2574847,essv2568680,essv2545062,essv2560362,essv2549857,essv2571256,essv2546047,essv2574105,essv2551293,essv2536287,essv2537946,essv2548890,essv2533249,essv2554407,essv2547809,essv2524934,essv2563372,essv2558024 M 157 120 0 Samples from several populations that are part of the HapMap project. DDX58 NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11894,NA11918,NA11919,NA11920,NA11994,NA11995,NA12044,NA12045,NA12144,NA12154,NA12155,NA12249,NA12287,NA12414,NA12489,NA12717,NA12749,NA12750,NA12751,NA12761,NA12776,NA12812,NA12828,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18504,NA18508,NA18510,NA18516,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19005,NA19093,NA19099,NA19108,NA19116,NA19129,NA19138,NA19147,NA19172,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv831540 9 32499385 32641744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447622 S 95 1 0 DDX58,LOC100129250,NDUFB6,TAF1L,TOPORS nsv893012 9 32597492 32710834 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542552 S 6533 1 0 TAF1L MS15782 esv24966 9 32618220 32626697 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17438 S 451 6 0 TAF1L NA06985,NA12287,NA12414,NA12489,NA15510,NA19190 nsv512097 9 32698850 32719846 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624653 S 1 0 1 "" 1 dgv8162n71 9 32700077 32718428 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893013,nsv893014 M 6533 0 2 "" MS20640,SP54083 nsv893015 9 32700077 32728041 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534388,nssv1527989,nssv1594775,nssv1550918,nssv1522169,nssv1578480 M 6533 0 6 "" IS34789,IS40023,MS11558,MS18658,SP52759,SP81099 nsv442142 9 32706572 32717150 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv518244 9 32707013 32715773 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695674 S 2026 0 1 "" nsv525853 9 32707013 32715773 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702047 S 2026 1 0 "" dgv71n64 9 32707013 32717136 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818697,nsv818698 M 112 2 0 "" NA18516,NA19143 nsv471305 9 32707013 32717136 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545853 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00462 nsv526161 9 32707013 32729599 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702420 S 2026 1 0 "" dgv938n27 9 32707510 32717136 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466378,nsv466377 M 1557 0 2 "" HGDP00105,HGDP00462 nsv513741 9 32708087 32723477 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626993 S 1 1 0 "" 1 dgv484n21 9 32738365 32744685 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525112,nsv515949 M 2026 0 6 "" nsv415690 9 32808846 32808846 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434268 M 24 "" nsv893016 9 32856253 32935939 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586969 S 6533 1 0 "" IS37986 esv29807 9 32872687 32873305 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11598 S 451 4 0 "" NA11993,NA12006,NA19129,NA19225 esv992205 9 32872751 32873305 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586307 S 3 1 0 "" HuRef esv9570 9 32890607 32891119 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32011 S 1 0 1 "" SJK esv987576 9 32890617 32890721 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571759 S 3 0 1 "" HuRef nsv6522 9 32924696 32972357 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3710,nssv8601 M 9 2 0 APTX NA12156,NA12878 nsv438101 9 32991449 33014917 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470095,nssv470094 M 269 0 2 Samples from several populations that are part of the HapMap project. APTX NA07357,NA12057 nsv893017 9 33005014 33250632 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586970 S 6533 1 0 B4GALT1,BAG1,DNAJA1,SMU1,SPINK4 IS37986 nsv8438 9 33005136 33019069 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20513 S 31 1 0 Samples from several populations that are part of the HapMap project. DNAJA1 NA18972 nsv509299 9 33038935 33163528 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623558 S 4 1 0 B4GALT1,SMU1 NA18994 esv2347895 9 33040661 33041321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4652027 S 1 0 1 SMU1 NA18507 esv1029480 9 33040837 33041148 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982549 S 2 0 1 SMU1 HuRef nsv527001 9 33103970 33105556 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703376 S 2026 0 1 B4GALT1 esv259528 9 33116486 33116765 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394246,essv2393919,essv2393813 M 6 0 0 Samples from several populations that are part of the HapMap project. B4GALT1 NA12878,NA12891,NA12892 esv259823 9 33116494 33116766 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399011,essv2396721,essv2400337,essv2398481,essv2399824,essv2398894,essv2396236,essv2397555,essv2398268,essv2397292,essv2401096,essv2396924,essv2396463,essv2394699,essv2397122,essv2398367,essv2395195,essv2396383 M 144 0 0 Samples from several populations that are part of the HapMap project. B4GALT1 NA10851,NA11831,NA11881,NA11894,NA11994,NA11995,NA12006,NA12044,NA12763,NA12878,NA12891,NA12892,NA18517,NA18870,NA18951,NA19093,NA19108,NA19138 esv1668110 9 33116658 33116658 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4045669 S 2 1 0 B4GALT1 HuRef esv272933 9 33120525 33122089 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580510,essv2579229,essv2579737 M 7 3 0 Samples from several populations that are part of the HapMap project. B4GALT1 NA19238,NA19239,NA19240 esv268223 9 33120540 33122085 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510093,essv2495289,essv2507940,essv2502293,essv2508042,essv2512270,essv2503396,essv2508590,essv2502525,essv2503823,essv2510786,essv2504235,essv2502986,essv2501126,essv2509105,essv2506004,essv2498345,essv2500425,essv2503303,essv2512942,essv2497230,essv2500027,essv2508263,essv2506331,essv2494419,essv2507699,essv2512721,essv2508154,essv2509968,essv2501621,essv2507502,essv2505224,essv2500981,essv2498409,essv2505821,essv2507229,essv2494104,essv2513330,essv2509344,essv2511651,essv2503753,essv2495953,essv2504723,essv2499172,essv2510916,essv2498916,essv2511967,essv2501901,essv2498169,essv2502021,essv2495053,essv2504345,essv2499536,essv2513129 M 157 54 0 Samples from several populations that are part of the HapMap project. B4GALT1 NA07051,NA07347,NA07357,NA10847,NA11829,NA11992,NA12003,NA12004,NA12045,NA12155,NA12716,NA12717,NA12750,NA12761,NA18501,NA18505,NA18507,NA18516,NA18522,NA18523,NA18526,NA18537,NA18542,NA18547,NA18552,NA18558,NA18561,NA18566,NA18572,NA18576,NA18577,NA18579,NA18593,NA18608,NA18638,NA18853,NA18856,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18940,NA18960,NA18961,NA19099,NA19114,NA19116,NA19138,NA19238,NA19239,NA19240,NA19257 nsv6523 9 33122727 33139709 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8602 S 9 0 1 B4GALT1 NA12156 nsv519369 9 33124617 33273161 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655702,nssv660858 M 2026 2 0 B4GALT1,BAG1,CHMP5,SPINK4 esv2598481 9 33202617 33204325 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274472 S 1 0 1 "" NA18507 esv1453432 9 33203082 33203941 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752290 S 2 0 1 "" HuRef esv2463163 9 33240985 33242551 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5226544 S 1 0 1 BAG1 NA18507 esv2255059 9 33241845 33242310 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4576752 S 1 0 1 "" NA18507 esv995721 9 33241889 33241954 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579835 S 3 0 1 "" HuRef nsv416090 9 33242086 33242250 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434668 M 24 "" nsv6524 9 33317243 33327748 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8603 S 9 0 1 NFX1 NA12156 nsv8439 9 33354854 33412602 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17943 S 31 0 1 Samples from several populations that are part of the HapMap project. AQP7,NFX1 NA07048 nsv482129 9 33374949 33392517 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558490 S 1 1 0 AQP7 KB1 nsv893018 9 33398019 33441136 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529391 S 6533 1 0 AQP3 SP81526 esv2612476 9 33412690 33415318 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5318083 S 1 0 1 "" NA18507 esv2142518 9 33413180 33414818 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4981797 S 1 0 1 "" NA18507 esv5219 9 33413327 33414738 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27660 S 1 0 1 Single Asian sample YH "" YH nsv415992 9 33413362 33414654 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434570 M 24 "" esv1150340 9 33413466 33413515 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752398 S 2 0 1 "" HuRef nsv466380 9 33424931 33443638 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541938 S 1557 0 1 AQP3 1780854215_A nsv516500 9 33424931 33456859 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668695,nssv682721 M 2026 0 2 AQP3,NOL6 nsv893019 9 33426563 33439952 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506609 S 6533 1 0 AQP3 SP54381 dgv8163n71 9 33431826 33439952 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893020,nsv893021 M 6533 4 0 AQP3 SP54442,SP54448,SP54620,SP54650 dgv8164n71 9 33434076 33437824 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893023,nsv893022 M 6533 2 0 AQP3 SP50116,SP52077 dgv8165n71 9 33434861 33439952 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893024,nsv893025 M 6533 0 2 AQP3 SP54956,SP54988 nsv518168 9 33455182 33468434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695589 S 2026 0 1 NOL6 nsv527128 9 33455651 33457595 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703513 S 2026 0 1 NOL6 esv28685 9 33478744 33482628 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14718 S 451 0 2 "" NA19099,NA19147 nsv8440 9 33588656 33601082 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15701 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 nsv8441 9 33607283 33608941 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20157 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19132 nsv471653 9 33607645 33750742 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550884,nssv550887,nssv550888,nssv550889,nssv550885,nssv550883,nssv550882,nssv550886 M 48 8 0 ANXA2P2,PRSS3,PTENP1 NA15724,NA15728,NA15729,NA15731,NA15733,NA16689,NA17014,NA17016 nsv893026 9 33614429 33682209 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542553 S 6533 1 0 ANXA2P2,PTENP1 MS15782 nsv507513 9 33622047 33628047 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617791 S 4 1 0 "" CHM dgv1216n67 9 33635896 33636646 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824909,nsv824907 M 31 0 7 "" AK12,AK20,AK8,NA18537,NA18564,NA18942,NA18972 nsv820916 9 33635896 33636764 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420806 S 1 1 0 "" NA10851 nsv8442 9 33646355 33649489 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv15731,nssv20121,nssv16944,nssv17210 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA12872,NA18853,NA18860,NA18975 nsv893027 9 33649570 33761241 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586971 S 6533 1 0 PRSS3,PTENP1 IS37986 nsv518977 9 33665629 33835079 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696445 S 2026 1 0 PRSS3,PTENP1,UBE2R2 nsv8443 9 33687588 33692108 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19692,nssv18328,nssv20804,nssv20187,nssv17240,nssv21870,nssv20151 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA18502,NA18517,NA18853,NA18860,NA19132,NA19144,NA19221 nsv893028 9 33741865 34200872 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536364 S 6533 1 0 DCAF12,PRSS3,SNORD121A,SNORD121B,UBAP1,UBAP2,UBE2R2 MS12727 nsv824910 9 33747383 33750377 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423571 S 31 0 1 PRSS3 NA18999 nsv8444 9 33782372 33797431 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16974,nssv16916,nssv17536,nssv17535,nssv17575 M 31 0 5 Samples from several populations that are part of the HapMap project. PRSS3 NA18537,NA18552,NA18975,NA18980,NA19007 esv24699 9 33782711 33794828 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17836 S 451 0 1 PRSS3 NA12287 dgv2311e1 9 33794006 33809555 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1064,essv7474 M 271 0 0 UBE2R2 NA18633 nsv520467 9 33794813 34136645 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671679,nssv686824 M 2026 2 0 DCAF12,SNORD121A,SNORD121B,UBAP2,UBE2R2 esv270811 9 33806327 33806412 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516090 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12873 esv23020 9 33807099 33807701 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20137 S 451 0 1 UBE2R2 NA07045 nsv893029 9 33810938 33888779 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514766 S 6533 1 0 UBE2R2 SP56064 nsv831541 9 33879013 34065664 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447623 S 95 0 1 SNORD121A,SNORD121B,UBAP2,UBE2R2 nsv893030 9 33888779 34141463 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542554 S 6533 1 0 DCAF12,SNORD121A,SNORD121B,UBAP2,UBE2R2 MS15782 nsv893031 9 33925736 34040406 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574937 S 6533 0 1 SNORD121A,UBAP2 IS33669 nsv893032 9 33982591 34061541 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574593 S 6533 0 1 UBAP2 IS33601 nsv893033 9 33998406 34079395 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586972 S 6533 1 0 DCAF12,UBAP2 IS37986 nsv6525 9 34037775 34080440 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9920 S 9 0 1 DCAF12,UBAP2 NA18507 esv2471872 9 34040601 34049316 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5385705 S 1 0 1 "" NA18507 nsv819806 9 34079212 34079445 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419381 S 2 1 0 DCAF12 AK1 nsv509300 9 34100034 34208309 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623559 S 4 1 0 DCAF12,UBAP1 NA18994 esv1229280 9 34105458 34105458 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794793 S 2 1 0 DCAF12 HuRef nsv824911 9 34171549 34172290 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425133,nssv1426848,nssv1440484,nssv1437591 M 31 0 4 UBAP1 AK2,AK6,NA18564,NA18949 nsv893034 9 34221547 34274727 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552416 S 6533 0 1 KIF24,UBAP1 MS19414 dgv8166n71 9 34239204 34283063 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893036,nsv893035 M 6533 0 7 KIF24,UBAP1 IS35701,IS41956,MS19798,MS20630,MS20813,MS21189,MS22898 nsv893037 9 34243720 34449025 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586973 S 6533 1 0 C9orf24,C9orf25,DNAI1,KIAA1161,KIF24,NUDT2 IS37986 nsv831542 9 34263803 34451545 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447624 S 95 1 0 C9orf24,C9orf25,DNAI1,KIAA1161,KIF24,NUDT2 esv267813 9 34316303 34316388 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514275 S 157 1 0 Samples from several populations that are part of the HapMap project. KIF24 NA12874 nsv831543 9 34421289 34605381 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447625 S 95 0 1 C9orf23,C9orf25,CNTFR,DCTN3,DNAI1,ENHO,LOC415056 nsv519946 9 34511867 34544999 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694356 S 2026 0 1 CNTFR,ENHO nsv893038 9 34525209 34651994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592218 S 6533 0 1 ARID3C,C9orf23,CCL27,CNTFR,DCTN3,GALT,IL11RA,LOC415056,SIGMAR1 IS39233 nsv818699 9 34525209 34675940 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415676 S 112 1 0 ARID3C,C9orf23,CCL27,CNTFR,DCTN3,GALT,IL11RA,LOC415056,SIGMAR1 NA12248 nsv893039 9 34610897 34633319 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510779 S 6533 0 1 ARID3C,SIGMAR1 SP54988 nsv415912 9 34634298 34640279 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434490 M 24 GALT nsv831544 9 34640000 34808948 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447626 S 95 1 0 CCL19,CCL21,CCL27,FAM205A,GALT,IL11RA esv2632626 9 34671278 34671883 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393258 S 1 1 0 "" NA18507 esv259605 9 34671369 34672018 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394227,essv2393964,essv2393855,essv2394367 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19240 esv259810 9 34671382 34672077 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400222,essv2400055,essv2398780,essv2394797,essv2395295,essv2397530,essv2399828,essv2398881,essv2397551,essv2394462,essv2396802,essv2400745,essv2396679,essv2397970,essv2398263,essv2399750,essv2397370,essv2401097,essv2396934,essv2395088,essv2395254,essv2399915,essv2399221,essv2398569,essv2395009,essv2399334,essv2396152,essv2395690,essv2396053,essv2400349,essv2396316,essv2398525,essv2397196,essv2396880,essv2398823,essv2395550,essv2398980,essv2395739,essv2399944,essv2397896,essv2398231,essv2400662,essv2395120,essv2394534,essv2395823,essv2399657,essv2396980,essv2398748,essv2400969,essv2399282,essv2395674,essv2398707,essv2400449,essv2394506 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA07347,NA07357,NA11918,NA11992,NA11994,NA11995,NA12044,NA12045,NA12249,NA12717,NA12750,NA12751,NA12763,NA12828,NA12878,NA12891,NA12892,NA18486,NA18499,NA18504,NA18508,NA18516,NA18519,NA18522,NA18523,NA18532,NA18537,NA18555,NA18558,NA18562,NA18572,NA18579,NA18582,NA18593,NA18605,NA18853,NA18856,NA18907,NA18909,NA18912,NA18953,NA18959,NA18961,NA18964,NA18973,NA19005,NA19099,NA19102,NA19116,NA19190,NA19240,NA19257 nsv893040 9 34675940 34758693 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586974 S 6533 1 0 CCL19,CCL21,FAM205A IS37986 nsv509301 9 34693174 34789266 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620921 S 4 1 0 CCL21,FAM205A NA15510 nsv6526 9 34719794 34735496 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3711 S 9 1 0 "" NA12878 nsv529026 9 34733681 34809531 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705737 S 2026 0 1 "" nsv893041 9 34758693 34874870 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542555 S 6533 1 0 FAM205B MS15782 nsv519332 9 34774168 34809531 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696797 S 2026 1 0 "" nsv517832 9 34781536 34805932 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695236 S 2026 1 0 "" nsv893042 9 34809531 34877364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592661 S 6533 1 0 FAM205B IS39243 esv272091 9 34814536 34814677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576185,essv2530603,essv2536222,essv2548686 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA12814,NA12873 esv1336395 9 34894795 34894795 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282378 S 2 1 0 "" HuRef nsv415893 9 34894796 34894796 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434471 M 24 "" nsv824912 9 34928132 34961263 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438986 S 31 1 0 KIAA1045 NA18973 esv21645 9 34947784 34948637 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15579 S 451 0 2 KIAA1045 NA07045,NA12489 nsv893043 9 34973190 35199763 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586975 S 6533 1 0 C9orf131,DNAJB5,FANCG,KIAA1539,PIGO,STOML2,UNC13B,VCP IS37986 nsv6527 9 34974487 35005046 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1782 S 9 1 0 DNAJB5 NA18555 esv23762 9 34977518 34978462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14235 S 451 0 1 "" NA19108 esv999515 9 34980807 34981332 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587143 S 3 0 1 DNAJB5 HuRef esv1674992 9 35009041 35009041 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079953 S 2 1 0 "" HuRef nsv893044 9 35081154 35131508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549761 S 6533 0 1 KIAA1539,PIGO,STOML2 MS18276 esv24832 9 35105200 35106195 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14405 S 451 0 1 KIAA1539 NA12004 esv273672 9 35138158 35138243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581319,essv2581117 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv26242 9 35160847 35165142 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16619 S 451 2 0 UNC13B NA18523,NA19099 nsv508542 9 35200283 35258841 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622609 S 4 0 1 UNC13B NA18994 nsv831545 9 35317928 35497319 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447627,nssv1447631,nssv1447630 M 95 0 3 ATP8B5P,RUSC2,UNC13B nsv820155 9 35351108 35351310 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419126 S 2 1 0 UNC13B AK1 esv24160 9 35362369 35365249 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19941 S 451 16 3 UNC13B NA06985,NA11931,NA11993,NA11995,NA12006,NA12156,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18508,NA18858,NA18909,NA19129,NA19147,NA19190,NA19225 nsv821068 9 35362369 35365353 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420807 S 1 0 1 UNC13B NA10851 esv1739502 9 35363035 35364333 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4294827 S 2 0 1 UNC13B HuRef dgv8167n71 9 35484547 35536735 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893045,nsv893046 M 6533 2 0 RUSC2 SP54652,SP54803 nsv512987 9 35484804 35485350 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625642 S 1 1 0 RUSC2 1 esv1015523 9 35485153 35485153 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3648188 S 2 1 0 RUSC2 HuRef esv1590335 9 35485157 35485157 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4340447 S 2 1 0 RUSC2 HuRef nsv527028 9 35547206 35564609 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703403 S 2026 0 1 FAM166B,RUSC2 nsv528256 9 35547206 35618739 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704822 S 2026 0 1 CD72,FAM166B,MIR4667,RUSC2,TESK1 esv25703 9 35595071 35595941 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18319 S 451 0 1 TESK1 NA07045 dgv8168n71 9 35600912 35943725 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893048,nsv893047 M 6533 2 0 C9orf100,C9orf128,CA9,CCDC107,CD72,CREB3,FP588,GBA2,HINT2,HRCT1,LOC158376,MSMP,NPR2,OR13J1,RGP1,RMRP,SIT1,SPAG8,TLN1,TMEM8B,TPM2 IS37986,MS15782 nsv466385 9 35652251 35695086 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541939 S 1557 0 1 C9orf100,CA9,TLN1,TPM2 NINDS_65 nsv6528 9 35656749 35690669 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3712 S 9 1 0 CA9,TLN1,TPM2 NA12878 nsv819330 9 35712849 35713826 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419143 S 2 0 1 TLN1 AK1 esv25437 9 35718110 35722416 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21191 S 451 0 1 CREB3,TLN1 NA12878 esv2399025 9 35792915 35793594 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4961477 S 1 0 1 NPR2 NA18507 esv2571756 9 35793018 35794546 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358942 S 1 0 1 NPR2 NA18507 esv2900 9 35793045 35793493 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25341 S 1 0 1 Single Asian sample YH NPR2 YH esv1010658 9 35793096 35793398 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579843 S 3 0 1 NPR2 HuRef nsv416447 9 35793097 35793399 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435025 M 24 NPR2 nsv831546 9 35816694 36034564 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447632 S 95 0 1 C9orf128,FP588,HRCT1,LOC158376,OR13J1,OR2S2,RECK,TMEM8B esv23687 9 35903117 35904447 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19877 S 451 2 3 "" NA12004,NA12156,NA12287,NA12414,NA15510 esv2120294 9 35903289 35903653 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4809667 S 1 0 1 "" NA18507 esv996707 9 35903371 35904398 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586475 S 3 1 0 "" HuRef esv7568 9 35903678 35904050 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30009 S 1 0 1 "" SJK nsv893049 9 35934775 36490359 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586977 S 6533 1 0 CCIN,CLTA,GLIPR2,GNE,OR2S2,RECK,RNF38 IS37986 esv1175556 9 35942944 35942944 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4217088 S 2 1 0 "" HuRef esv2538677 9 35954745 35956160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194907 S 1 0 1 "" NA18507 esv2461478 9 35968954 35970261 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210466 S 1 0 1 "" NA18507 nsv512098 9 35970621 35972322 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624654 S 1 0 1 "" 1 esv8731 9 35970777 35971992 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31172 S 1 0 1 "" SJK esv23817 9 35970780 35972060 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14398 S 451 0 19 "" NA07037,NA11931,NA11995,NA12004,NA12044,NA12156,NA12239,NA12828,NA18517,NA18523,NA18861,NA18909,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 nsv824913 9 35970861 35972066 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432222,nssv1431467,nssv1427642 M 31 0 3 "" AK18,AK20,AK8 esv32581 9 35971122 35971678 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98680,essv101196,essv101071,essv98337,essv94819,essv101288,essv94358,essv95274,essv101776,essv95918,essv99072,essv100431,essv98513 M 51 0 13 "" 21606,21618,21693,21772,21791,21805,21808,21872,21909,21911,21938,22300,22352 esv33339 9 35974360 35978828 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98934 S 51 0 1 "" 21606 nsv519496 9 35981115 35982302 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691137,nssv656425 M 2026 0 2 "" esv2750744 9 35983984 35986683 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94687 S 51 1 0 "" 21791 nsv831547 9 35985129 36133758 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447633 S 95 0 1 GLIPR2,RECK esv2542065 9 35988859 35989951 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237734 S 1 1 0 "" NA18507 esv1045766 9 35989262 35989262 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4306281 S 2 1 0 "" HuRef esv32839 9 35989407 35991876 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101222,essv98339 M 51 0 2 "" 21618,21772 esv34080 9 35995884 36443176 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 CCIN,CLTA,GLIPR2,GNE,RECK,RNF38 esv2212145 9 35998792 35999226 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4687318 S 1 0 1 "" NA18507 esv1434164 9 35998985 35999049 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756825 S 2 0 1 "" HuRef nsv416245 9 35998986 35999049 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434823 M 24 "" nsv893050 9 36118544 36135427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509930 S 6533 0 1 GLIPR2 SP54956 nsv416223 9 36123038 36123038 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434801 M 24 "" nsv527617 9 36127346 36130115 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704083 S 2026 1 0 GLIPR2 nsv519442 9 36127346 36133566 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694329 S 2026 0 1 GLIPR2 nsv528600 9 36127346 36163148 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705226 S 2026 0 1 CCIN,GLIPR2 nsv893051 9 36163148 36281214 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542557 S 6533 1 0 CLTA,GNE MS15782 esv1128958 9 36206565 36206904 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963306 S 2 0 1 GNE HuRef nsv466386 9 36282975 36305900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541940 S 1557 0 1 "" 1780862484_A nsv893052 9 36282975 36331247 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574685 S 6533 0 1 RNF38 IS33605 nsv893053 9 36297043 36419199 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567967 S 6533 0 1 RNF38 IS31179 esv5146 9 36299233 36299789 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27587 S 1 0 1 Single Asian sample YH "" YH esv1050582 9 36299279 36299600 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4344238 S 2 0 1 "" HuRef nsv524120 9 36300642 36300778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699998 S 2026 0 1 "" nsv416514 9 36331791 36331842 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435092 M 24 RNF38 esv1684027 9 36331807 36331865 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835402 S 2 0 1 RNF38 HuRef nsv824914 9 36350662 36353721 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425922 S 31 1 0 RNF38 AK4 nsv7420 9 36351713 36389833 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6271 S 9 0 0 RNF38 NA12156 esv2453594 9 36351969 36354620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326259 S 1 0 1 RNF38 NA18507 nsv824915 9 36352159 36353721 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425134 S 31 1 0 RNF38 AK2 nsv821197 9 36352159 36353818 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420808 S 1 0 1 RNF38 NA10851 esv27332 9 36352611 36353818 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19251 S 451 1 0 RNF38 NA15510 nsv824916 9 36352611 36353818 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436000,nssv1426849,nssv1429969,nssv1439815,nssv1436814,nssv1432223,nssv1431468,nssv1421874,nssv1428138,nssv1441221,nssv1429223,nssv1423572,nssv1434551,nssv1434308,nssv1422750,nssv1433798,nssv1440486 M 31 0 17 RNF38 AK12,AK14,AK18,AK20,AK6,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18592,NA18947,NA18969,NA18997,NA18999 esv3856 9 36352617 36354189 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26297 S 1 0 1 Single Asian sample YH RNF38 YH nsv511432 9 36352690 36353754 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626043 S 1 0 1 RNF38 1 nsv512099 9 36352749 36354195 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624656 S 1 0 1 RNF38 1 nsv824917 9 36352785 36353721 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430725,nssv1438987,nssv1435245,nssv1441506,nssv1428461 M 31 2 3 RNF38 AK10,AK16,NA18547,NA18942,NA18973 nsv499545 9 36352881 36354095 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586110 S 9 0 1 RNF38 esv33302 9 36353014 36353550 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101596,essv101153,essv93827,essv100685,essv100956,essv98139,essv94725,essv101388,essv95372,essv101647,essv95784,essv94508,essv92852,essv93290,essv92626,essv100296,essv96272 M 51 0 17 RNF38 21603,21618,21634,21656,21693,21772,21791,21805,21872,21909,21911,21932,21939,22170,22233,22300,22371 nsv6529 9 36389225 36396118 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5154 S 9 1 0 RNF38 NA19129 nsv831549 9 36392178 36539166 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447634 S 95 0 1 "" esv2558220 9 36412850 36414451 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295877 S 1 0 1 "" NA18507 esv2003931 9 36413465 36414170 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4919110 S 1 0 1 "" NA18507 esv3408 9 36413527 36414086 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25849 S 1 0 1 Single Asian sample YH "" YH esv1009228 9 36413654 36413969 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566163 S 3 0 1 "" HuRef esv2477659 9 36456805 36457574 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5199319 S 1 1 0 "" NA18507 esv1258309 9 36457153 36457153 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867619 S 2 1 0 "" HuRef esv22146 9 36474860 36478248 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16002,esv15477 M 451 0 3 "" NA07045,NA12489,NA19190 nsv831550 9 36499102 36699458 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447635 S 95 0 1 MELK nsv6530 9 36650247 36694971 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8604 S 9 0 1 MELK NA12156 esv272822 9 36660734 36660996 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579206,essv2579481 M 7 2 0 Samples from several populations that are part of the HapMap project. MELK NA19239,NA19240 nsv893054 9 36712345 36739333 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586978 S 6533 1 0 "" IS37986 nsv471306 9 36730957 36838921 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545855 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4475,PAX5 HGDP01412 nsv893055 9 36731027 36820616 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542558 S 6533 1 0 MIR4475 MS15782 nsv512988 9 36754360 36754431 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625643 S 1 1 0 "" 1 nsv6531 9 36822802 36866605 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8605 S 9 0 1 MIR4540,PAX5 NA12156 nsv466387 9 36846268 36875583 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541941 S 1557 0 1 MIR4540,PAX5 NINDS_49 nsv466388 9 36862314 36876065 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541942 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PAX5 HGDP00602 nsv516601 9 36871866 36875450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669486,nssv687078 M 2026 0 2 PAX5 nsv438102 9 36872141 36890817 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470098,nssv470096 M 269 0 2 Samples from several populations that are part of the HapMap project. MIR4476,PAX5 NA18500,NA19207 nsv466389 9 36891494 36912924 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541943 S 1557 0 1 PAX5 NINDS_173 esv1261217 9 36914838 36914838 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027880 S 2 1 0 PAX5 HuRef nsv893056 9 36940507 37343252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586979 S 6533 1 0 LOC100506710,PAX5,ZCCHC7 IS37986 nsv522345 9 36950765 36951472 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695125 S 2026 0 1 PAX5 nsv824918 9 36956756 37032505 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438988 S 31 1 0 PAX5 NA18973 nsv824921 9 36972557 36979750 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428150 S 31 1 0 PAX5 NA18947 nsv824922 9 36973573 36977989 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424751 S 31 1 0 PAX5 NA18547 esv22138 9 36976123 36976698 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20664 S 451 0 1 PAX5 NA07045 esv5936 9 37010286 37010364 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28377 S 1 1 0 PAX5 SJK nsv416411 9 37042699 37046904 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434989 M 24 "" nsv466390 9 37048135 37279932 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541944 S 1557 0 1 LOC100506710,ZCCHC7 1780854231_A nsv818701 9 37060398 37105196 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416081 S 112 0 1 LOC100506710 NA12801 nsv6533 9 37070630 37103286 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv798 S 9 1 0 LOC100506710 NA19240 nsv529027 9 37098497 37343252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705738 S 2026 0 1 ZCCHC7 nsv520965 9 37105196 37144793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681030,nssv678920 M 2026 0 2 ZCCHC7 esv994123 9 37176456 37186830 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564146 S 3 0 1 ZCCHC7 HuRef esv271260 9 37180279 37180364 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514449 S 157 1 0 Samples from several populations that are part of the HapMap project. ZCCHC7 NA12874 nsv6534 9 37191741 37201797 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9762 S 9 1 0 ZCCHC7 NA18507 nsv831551 9 37229857 37363678 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447637,nssv1447636 M 95 1 1 ZCCHC7 nsv893057 9 37285658 37377177 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542559 S 6533 1 0 ZCCHC7 MS15782 nsv6535 9 37332670 37365362 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3713 S 9 1 0 ZCCHC7 NA12878 nsv518327 9 37372099 37377218 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695757 S 2026 0 1 "" esv2405946 9 37373959 37374364 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965585 S 1 0 1 "" NA18507 nsv893058 9 37377218 37416152 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586980 S 6533 1 0 GRHPR IS37986 nsv893059 9 37470017 37499875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586981 S 6533 1 0 POLR1E IS37986 esv259927 9 37492439 37505170 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400724,essv2400381 M 144 0 0 Samples from several populations that are part of the HapMap project. FBXO10,POLR1E NA18542,NA18960 nsv824923 9 37492450 37505005 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436815 S 31 1 0 FBXO10,POLR1E NA18542 nsv442144 9 37494703 37504032 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 FBXO10 nsv893060 9 37547720 37654832 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586982 S 6533 1 0 FBXO10,FRMPD1,TOMM5 IS37986 esv269463 9 37584212 37584552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516726,essv2518796,essv2518588,essv2515046,essv2514434,essv2517545,essv2516223,essv2516897,essv2517345,essv2518859,essv2518232 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12045,NA12287,NA12812,NA12874,NA12878,NA12891,NA12892,NA18970,NA19239,NA19240 esv272993 9 37584217 37584547 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584813,essv2583565 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 esv271451 9 37586314 37586645 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558042,essv2571559,essv2543800,essv2531955,essv2548390,essv2550519,essv2554286,essv2564494,essv2578040,essv2559501,essv2555020,essv2557509,essv2551701,essv2561585,essv2524603,essv2566166,essv2568020,essv2528829,essv2566903,essv2569152,essv2543561,essv2539491,essv2567180,essv2534211,essv2525595,essv2526988,essv2575130,essv2526428,essv2530385,essv2568579,essv2545243,essv2560185,essv2549859,essv2533049,essv2563353 M 157 35 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA10847,NA10851,NA11840,NA11992,NA12006,NA12045,NA12155,NA12287,NA12751,NA12761,NA12776,NA12872,NA18499,NA18504,NA18523,NA18555,NA18572,NA18577,NA18579,NA18853,NA18861,NA18870,NA18912,NA18947,NA18959,NA18980,NA19005,NA19102,NA19114,NA19141,NA19147,NA19172,NA19190,NA19225 esv7628 9 37594525 37594584 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30069 S 1 1 0 "" SJK nsv469813 9 37618197 37767278 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649834 M 265 0 1 Samples from several populations that are part of the HapMap project. FRMPD1,RG9MTD3 esv1260484 9 37673760 37673760 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814738 S 2 1 0 FRMPD1 HuRef nsv831552 9 37683649 37849977 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447638 S 95 1 0 DCAF10,EXOSC3,FRMPD1,RG9MTD3 nsv893061 9 37709473 37735413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517999 S 6533 0 1 FRMPD1 SP57430 nsv819610 9 37723668 37725140 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419268 S 2 0 1 FRMPD1 AK1 nsv893062 9 37735413 37786342 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586983 S 6533 1 0 EXOSC3,FRMPD1,RG9MTD3 IS37986 nsv469814 9 37767283 37940151 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649835 M 265 2 0 Samples from several populations that are part of the HapMap project. DCAF10,EXOSC3,MCART1,RG9MTD3,SHB esv32947 9 37779026 37779736 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98135 S 51 0 1 "" 21772 esv1381799 9 37798747 37798747 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4209488 S 2 1 0 DCAF10 HuRef esv269358 9 37860168 37860358 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510150,essv2495450,essv2504983,essv2504042,essv2496567,essv2496263,essv2494552,essv2505881,essv2502390,essv2512293,essv2493051,essv2499180,essv2499811,essv2504396,essv2513081 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11829,NA11919,NA12828,NA18505,NA18510,NA18511,NA18550,NA18861,NA18948,NA18949,NA18951,NA19114,NA19225 dgv8169n71 9 37906408 37964481 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893064,nsv893063,nsv893065 M 6533 0 7 SHB IS37428,IS37443,IS40902,IS41848,MS13011,MS20195,MS22611 dgv485n21 9 37910230 37929673 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527731,nsv518526 M 2026 0 2 SHB nsv428210 9 37967887 38144215 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451656,nssv451661,nssv451659,nssv451662,nssv451657,nssv451655,nssv451666,nssv451665,nssv451658,nssv451663,nssv451660 M 62 0 11 SHB HGDP00471,HGDP00472,HGDP00474,HGDP00476,HGDP00478,HGDP01088,HGDP01089,NA18498,NA18916,NA19225,NA19257 esv22578 9 38056045 38060038 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12944,esv11697 M 451 0 4 SHB NA07045,NA12156,NA12489,NA19190 nsv519498 9 38099555 38106868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656426,nssv682897 M 2026 0 2 "" esv24066 9 38189276 38190496 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19584 S 451 1 0 "" NA12489 esv28461 9 38216885 38217386 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18211 S 451 0 1 "" NA12414 nsv6536 9 38224688 38264818 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3715,nssv8607 M 9 2 0 "" NA12156,NA12878 esv270011 9 38241251 38241648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510543,essv2495661 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18916 nsv8445 9 38273615 38675717 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20543,nssv17566,nssv21900,nssv19722,nssv15791 M 31 1 4 Samples from several populations that are part of the HapMap project. ALDH1B1,ANKRD18A,FAM201A,IGFBPL1 NA12872,NA18502,NA18552,NA18972,NA19221 nsv893066 9 38280172 38382938 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586984 S 6533 1 0 ALDH1B1 IS37986 esv1248535 9 38314876 38315282 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785741 S 2 0 1 "" HuRef esv34172 9 38325475 38426992 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 ALDH1B1,IGFBPL1 esv1004008 9 38369007 38369844 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586156 S 3 1 0 "" HuRef nsv527063 9 38386065 38386502 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703442 S 2026 0 1 ALDH1B1 nsv6537 9 38412795 38446109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv799 S 9 1 0 IGFBPL1 NA19240 nsv893067 9 38421667 38605175 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542560 S 6533 1 0 ANKRD18A MS15782 nsv428211 9 38441650 38609159 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451668,nssv451667 M 62 0 2 ANKRD18A HGDP00449,HGDP00467 dgv261e55 9 38449763 38673300 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv35073,esv34705 M 771 0 2 ANKRD18A,FAM201A NA12864,NA12872 nsv6538 9 38461174 38497218 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9763 S 9 0 1 "" NA18507 nsv442145 9 38476211 38488481 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2425993 9 38478674 38488954 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162912 S 1 0 1 "" NA18507 esv2043938 9 38479187 38488524 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4833366 S 1 0 1 "" NA18507 esv2607923 9 38479237 38485277 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208950 S 1 0 1 "" NA18507 esv23235 9 38479277 38488270 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13254 S 451 0 3 "" NA18909,NA19099,NA19225 nsv416101 9 38479356 38488345 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434679 M 24 "" dgv2312e1 9 38493875 38673287 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19326,essv19811 M 271 0 0 ANKRD18A,FAM201A NA12864,NA12872 nsv517584 9 38495208 38495602 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692139,nssv652443,nssv682819,nssv680443,nssv661434,nssv680787,nssv661507,nssv654458 M 2026 0 8 "" nsv517861 9 38495208 38511164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695265 S 2026 0 1 "" esv28368 9 38504242 38506876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21230 S 451 0 1 "" NA19129 nsv438103 9 38509912 38524245 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470099 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 esv27497 9 38539406 38545733 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12976 S 451 0 1 "" NA19108 dgv2313e1 9 38557168 38736668 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17723,essv19514 M 271 0 0 ANKRD18A,FAM201A NA12864,NA12872 nsv6539 9 38564430 38598184 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2807 S 9 1 0 ANKRD18A NA18555 esv27275 9 38610311 38612006 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15900 S 451 0 1 ANKRD18A,FAM201A NA07045 nsv527646 9 38626463 38636995 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704117 S 2026 0 1 "" nsv893068 9 38626463 38647104 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586985 S 6533 1 0 "" IS37986 nsv437087 9 38638775 38642714 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466968 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12864 nsv437088 9 38642714 38675643 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466969 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12864 esv34117 9 38644225 38668071 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv2561511 9 38645429 38646543 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162852 S 1 1 0 "" NA18507 esv23242 9 38658716 38659421 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18931 S 451 0 1 "" NA12239 nsv893069 9 38663912 38804857 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542561 S 6533 1 0 "" MS15782 nsv519267 9 38700614 38701068 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655138,nssv691638,nssv684962 M 2026 0 3 "" dgv2315e1 9 38704188 38883075 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7181,essv4304,essv20995,essv19420,essv1134,essv22352,essv867,essv23789 M 271 0 0 "" NA06985,NA06991,NA11840,NA12763,NA18547,NA18603,NA18964,NA19000 dgv2316e1 9 38704188 39177642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14500,essv10397,essv19767,essv22435,essv6672,essv8722,essv12185,essv16763,essv8628,essv23840,essv540,essv22868,essv9920,essv17484,essv24240,essv23380,essv25023,essv16272,essv17794,essv21532,essv17918,essv18740,essv8147,essv20581,essv14970,essv23392,essv381 M 271 0 0 CNTNAP3 NA07022,NA07056,NA10831,NA10835,NA10839,NA10854,NA10856,NA12003,NA12750,NA12760,NA12761,NA12762,NA12873,NA12874,NA18608,NA18870,NA18872,NA18971,NA18998,NA19092,NA19101,NA19145,NA19161,NA19202,NA19206,NA19222,NA19239 dgv2317e1 9 38704188 39856309 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18381,essv9669 M 271 0 0 CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B NA12249,NA18913 esv2096118 9 38754650 38755113 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681232 S 1 0 1 "" NA18507 esv988414 9 38754832 38754898 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576293 S 3 0 1 "" HuRef esv1089396 9 38754835 38754902 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268557 S 2 0 1 "" HuRef esv997111 9 38754947 39052904 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586593 S 3 1 0 "" HuRef esv22399 9 38754947 39054160 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20743,esv21368,esv12146,esv17933,esv14282 M 451 7 10 "" NA11993,NA11995,NA12006,NA12044,NA12156,NA12287,NA12489,NA12776,NA12828,NA12878,NA18523,NA18907,NA18909,NA19099,NA19108,NA19190,NA19240 esv2475089 9 38757486 38758580 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5358128 S 1 1 0 "" NA18507 esv269459 9 38757740 38758071 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565759,essv2540757,essv2571757,essv2546265,essv2521312,essv2542286,essv2536745,essv2523044,essv2570925,essv2568121,essv2545563,essv2523387,essv2531755,essv2577302,essv2521746,essv2576527,essv2525377,essv2535135,essv2553958,essv2544519,essv2551955,essv2520531,essv2547491,essv2529409,essv2558287,essv2578066,essv2553761,essv2565354,essv2520111,essv2562025,essv2537613,essv2528579,essv2546844,essv2539990,essv2520762,essv2557569,essv2557113,essv2552659,essv2551726,essv2532225,essv2562648,essv2569452,essv2558936,essv2569864,essv2561658,essv2544729,essv2523817,essv2552952,essv2541152,essv2538346,essv2542878,essv2540434,essv2524613,essv2534629,essv2561099,essv2539911,essv2549415,essv2519678,essv2559901,essv2566160,essv2531001,essv2532455,essv2567685,essv2528937,essv2541515,essv2570316,essv2553232,essv2572322,essv2559318,essv2566911,essv2541892,essv2569017,essv2543720,essv2528070,essv2562170,essv2539299,essv2533963,essv2578120,essv2573059,essv2555568,essv2567123,essv2566438,essv2530038,essv2573887,essv2527601,essv2531276,essv2573744,essv2543085,essv2576929,essv2526915,essv2529779,essv2575749,essv2575358,essv2538500,essv2526421,essv2530295,essv2572710,essv2568539,essv2560257,essv2571408,essv2545917,essv2574373,essv2551586,essv2536014,essv2538148,essv2548786,essv2533289,essv2554643,essv2547993,essv2525038 M 157 110 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA07357,NA11829,NA11831,NA11840,NA11881,NA11894,NA11919,NA11920,NA11931,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12144,NA12154,NA12156,NA12249,NA12287,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12815,NA12874,NA12878,NA12891,NA12892,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18516,NA18520,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18605,NA18609,NA18638,NA18853,NA18856,NA18861,NA18870,NA18907,NA18909,NA18912,NA18916,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18961,NA18964,NA18965,NA18970,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19141,NA19143,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv273027 9 38757741 38758070 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583152,essv2584647,essv2583814 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 esv1184349 9 38757774 38757774 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3728099 S 2 1 0 "" HuRef dgv8170n71 9 38761831 38994140 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893070,nsv893072,nsv893071 M 6533 4 0 "" IS34134,IS34645,MS12206,SP52224 nsv8446 9 38761896 38954719 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17464,nssv19782,nssv20834,nssv18309,nssv17827,nssv19141,nssv15821,nssv20181,nssv17596,nssv16946,nssv16565,nssv20573,nssv17004,nssv18358,nssv17973,nssv17605,nssv20211,nssv17057,nssv17494,nssv16702,nssv21930,nssv18018,nssv20217,nssv17270,nssv20247 M 31 6 17 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA11830,NA12740,NA12872,NA18502,NA18517,NA18552,NA18563,NA18564,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19221,NA19240 nsv519835 9 38762575 39099101 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697077 S 2026 1 0 CNTNAP3 nsv820048 9 38781241 39355594 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418806 S 2 0 1 CNTNAP3,FAM75A1,FAM75A2 AK1 dgv8171n71 9 38781694 39139209 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893073,nsv893076,nsv893074 M 6533 3 0 CNTNAP3 IS38463,MS10549,MS17909 dgv2337e1 9 38816629 38905426 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv276,essv3064,essv21013,essv10870,essv17284,essv20015,essv14714,essv8762,essv24997,essv9794,essv24670 M 271 0 0 "" NA06991,NA07048,NA10839,NA11829,NA18856,NA18863,NA18871,NA18978,NA18981,NA19092,NA19159 nsv6540 9 38824747 38868634 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1783,nssv5155 M 9 0 2 "" NA18555,NA19129 nsv893075 9 38825190 39028228 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551119,nssv1566697 M 6533 1 1 "" IS30838,MS18787 nsv508543 9 38850296 38862264 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617370,nssv618848 M 4 0 2 "" CHM,NA10860 nsv499603 9 38853129 38864495 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586111 S 9 0 1 "" nsv515138 9 38858408 38864072 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628017 S 1414 0 1 "" nsv831553 9 38860163 39067744 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447641,nssv1447639,nssv1447642 M 95 2 1 CNTNAP3 dgv8172n71 9 38879195 39088698 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893078,nsv893077 M 6533 2 0 CNTNAP3 IS31270,IS32015 nsv893079 9 38902272 39088698 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581524,nssv1589001 M 6533 1 1 CNTNAP3 IS35608,IS38277 nsv893080 9 38924991 39708311 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592662 S 6533 1 0 CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B IS39243 nsv515139 9 38928356 39800652 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628018 S 1414 1 0 CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B nsv507514 9 38929249 38935249 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620447,nssv623074,nssv621942 M 4 3 0 "" NA10860,NA15510,NA18994 nsv893081 9 38955833 39130589 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520068 S 6533 0 1 CNTNAP3 SP50672 nsv8448 9 38973122 38974318 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17034,nssv16732 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18942,NA18975 dgv2320e1 9 38981975 39177642 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv642,essv21981 M 271 0 0 CNTNAP3 NA11995,NA18975 dgv2321e1 9 38981975 39294206 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9637,essv10564 M 271 0 0 CNTNAP3 NA19141,NA19240 dgv2322e1 9 38981975 39856309 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2608,essv24261,essv24395,essv23923 M 271 0 0 CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B NA10856,NA12707,NA12814,NA18990 dgv8173n71 9 38987691 39205382 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893083,nsv893082,nsv893085 M 6533 4 0 CNTNAP3 IS38439,MS10685,MS11020,MS25139 nsv893084 9 38994140 39088698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509577,nssv1513141,nssv1516170,nssv1502277,nssv1515709,nssv1502225 M 6533 6 0 CNTNAP3 SP50857,SP50882,SP54879,SP55690,SP56248,SP56505 nsv520007 9 38994140 39174065 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675894,nssv660070,nssv686079,nssv675190,nssv706055,nssv688627 M 2026 3 3 CNTNAP3 nsv818702 9 38994140 39174065 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416173,nssv1416171 M 112 2 0 CNTNAP3 NA12878,NA12892 esv2249159 9 39002298 39002898 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4969166 S 1 0 1 "" NA18507 esv1616804 9 39002483 39002762 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3609163 S 2 0 1 "" HuRef dgv1217n67 9 39011508 39157361 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824925,nsv824924 M 31 2 0 CNTNAP3 AK2,AK8 nsv8449 9 39017085 39049029 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19171,nssv18608,nssv17300,nssv18003,nssv17626 M 31 2 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA12155,NA18552,NA18853,NA19240 dgv8174n71 9 39028228 39248392 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893086,nsv893087 M 6533 0 2 CNTNAP3 IS34352,IS34543 nsv893088 9 39049230 39786142 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593782 S 6533 0 1 CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B IS39517 nsv893089 9 39049230 40497792 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589304 S 6533 0 1 CNTNAP3,FAM74A1,FAM75A1,FAM75A2,LOC653501,ZNF658B IS38335 nsv8450 9 39052333 39407722 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20603,nssv18418,nssv21960,nssv18388,nssv19812,nssv19842,nssv18033,nssv21990,nssv17857,nssv20241,nssv20277,nssv18638,nssv18048,nssv17117 M 31 4 8 Samples from several populations that are part of the HapMap project. CNTNAP3,FAM75A1,FAM75A2 NA07048,NA11830,NA12155,NA18502,NA18563,NA18564,NA18860,NA18972,NA19132,NA19144,NA19221 nsv471466 9 39062766 39278300 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548360,nssv548359,nssv548361 M 3 CNTNAP3 nsv831554 9 39073855 39224644 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447645,nssv1447644,nssv1447643 M 95 3 0 CNTNAP3 nsv415608 9 39086068 39086292 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434186 M 24 CNTNAP3 nsv893090 9 39088698 39178237 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513541 S 6533 1 0 CNTNAP3 SP55795 nsv469512 9 39097669 39246164 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649648 M 265 22 0 Samples from several populations that are part of the HapMap project. CNTNAP3 nsv893091 9 39130589 39270033 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555577 S 6533 1 0 CNTNAP3 MS21457 esv29529 9 39134780 39270784 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11618,esv20117 M 451 2 3 CNTNAP3 NA12287,NA12749,NA18909,NA19108,NA19225 nsv893092 9 39139209 39173453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515012 S 6533 1 0 CNTNAP3 SP56108 nsv893093 9 39139209 39248392 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551078,nssv1547428 M 6533 1 1 CNTNAP3 MS17373,MS18756 nsv831555 9 39149715 39302027 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447646,nssv1447647 M 95 2 0 CNTNAP3 dgv2324e1 9 39175643 39294206 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9043,essv5938,essv17024,essv15793,essv14546,essv8929,essv19586,essv8638,essv17059,essv16769,essv17787,essv18968,essv9871,essv394 M 271 0 0 CNTNAP3 NA10831,NA12005,NA12864,NA18550,NA18872,NA18971,NA19131,NA19132,NA19144,NA19145,NA19172,NA19200,NA19202,NA19239 nsv469801 9 39190165 39384628 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649822 M 265 2 0 Samples from several populations that are part of the HapMap project. CNTNAP3,FAM75A1,FAM75A2 nsv469632 9 39237030 39387764 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649558 M 265 1 1 Samples from several populations that are part of the HapMap project. CNTNAP3,FAM75A1,FAM75A2 nsv893094 9 39239923 39399402 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515830 S 6533 1 0 CNTNAP3,FAM75A1,FAM75A2 SP56289 essv367 9 39258647 39435728 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B NA18971 nsv893095 9 39270716 39814369 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551079 S 6533 0 1 CNTNAP3,FAM75A1,FAM75A2,LOC653501,ZNF658B MS18756 esv29519 9 39305460 39323721 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18766 S 451 1 0 "" NA19108 esv29308 9 39423607 39495148 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20551,esv21285 M 451 3 0 LOC653501,ZNF658B NA12878,NA18861,NA19147 nsv8451 9 39433499 39435678 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16976 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC653501,ZNF658B NA19007 nsv8452 9 39435678 39936961 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19872,nssv20633,nssv18508,nssv18123,nssv19902,nssv22050,nssv18478,nssv20307,nssv17147,nssv17565,nssv20271,nssv17006,nssv22020,nssv18668 M 31 4 8 Samples from several populations that are part of the HapMap project. FAM74A1,FAM75A1,FAM75A2,LOC653501,ZNF658B NA07048,NA12155,NA18502,NA18537,NA18563,NA18860,NA18972,NA19007,NA19132,NA19144,NA19221 esv27912 9 39569959 39579952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13161,esv20485 M 451 0 2 "" NA07037,NA19114 esv24987 9 39652776 39653572 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14811 S 451 1 0 "" NA12287 esv23699 9 39703727 39800345 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18458,esv14601 M 451 2 3 "" NA12287,NA12749,NA18909,NA19108,NA19225 nsv893096 9 39708311 39781042 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563110 S 6533 0 1 "" MS25868 dgv8175n71 9 39708311 39848881 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893097,nsv893098 M 6533 0 2 "" IS34543,IS36689 esv1507615 9 39728915 39728915 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335937 S 2 1 0 "" HuRef nsv893099 9 39747441 39835301 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500278 S 6533 1 0 "" SP50527 dgv8176n71 9 39756040 39954297 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893101,nsv893100 M 6533 0 2 FAM74A1,FAM75A1,FAM75A2 MS19941,MS21258 nsv469605 9 39802711 39964370 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649721 M 265 0 0 Samples from several populations that are part of the HapMap project. FAM74A1,FAM75A1,FAM75A2 dgv8177n71 9 39811419 40497792 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893105,nsv893103,nsv893102 M 6533 0 4 FAM74A1,FAM75A1,FAM75A2 IS34184,MS25190,MS25868,MS26019 esv26163 9 39833782 39853751 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20381 S 451 2 0 "" NA11894,NA19108 nsv482130 9 39874975 39881207 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558491 S 1 1 0 FAM75A1,FAM75A2 KB1 dgv8178n71 9 39879091 40627952 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893106,nsv893104 M 6533 4 6 FAM74A1,FAM75A1,FAM75A2 IS39931,MS11980,MS12493,MS13257,MS16347,MS20239,MS22177,MS24864,SP50822,SP52800 esv23274 9 39952904 39964744 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18401 S 451 3 0 "" NA12878,NA18861,NA19147 dgv8179n71 9 39960742 40868282 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893111,nsv893115,nsv893113,nsv893112,nsv893110,nsv893109,nsv893116,nsv893114,nsv893107,nsv893108 M 6533 26 0 FAM74A3,FAM75A3,ZNF658 IS31218,MS10611,MS12138,MS12331,MS12837,MS13866,MS14681,MS15206,MS15286,MS15940,MS17056,MS17373,MS17883,MS17900,MS17909,MS18935,MS21457,MS22093,MS22103,MS22787,MS24390,MS24808,MS25112,MS25402,MS25943,MS25983 esv22938 9 40014824 40222966 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17152,esv17254,esv19970,esv12370,esv11369 M 451 10 10 "" NA07045,NA11993,NA11995,NA12004,NA12006,NA12044,NA12287,NA12489,NA12776,NA12878,NA15510,NA18508,NA18523,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225,NA19240 esv998285 9 40028194 40218447 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586772 S 3 1 0 "" HuRef esv26326 9 40335103 40415791 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13651,esv15599 M 451 6 2 "" NA12004,NA12878,NA15510,NA18909,NA19099,NA19108,NA19114,NA19225 esv987825 9 40337845 40415791 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586646 S 3 1 0 "" HuRef dgv8180n71 9 40402889 40638501 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893120,nsv893118,nsv893119 M 6533 3 0 "" SP53964,SP54685,SP56789 dgv2329e1 9 40465835 40649287 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9601,essv14553,essv8957,essv4756,essv22545,essv10985,essv9982,essv1736,essv5899,essv9210,essv10151,essv9029,essv19691,essv15738,essv24378,essv8143,essv22053,essv9875,essv6653,essv4265,essv17841,essv2570,essv24288,essv11198,essv19286,essv23330,essv13881,essv14730,essv21184,essv22114,essv11510,essv18590,essv10393,essv23899,essv17039,essv3182,essv17092,essv16816,essv18767,essv19518,essv16427,essv18944,essv8633,essv22225,essv326 M 271 0 0 "" NA07348,NA10831,NA10838,NA10856,NA10857,NA11830,NA12005,NA12044,NA12154,NA12234,NA12264,NA12707,NA12750,NA12814,NA12864,NA12874,NA18550,NA18603,NA18608,NA18620,NA18854,NA18872,NA18971,NA18990,NA18997,NA19012,NA19099,NA19128,NA19130,NA19131,NA19132,NA19139,NA19141,NA19143,NA19144,NA19145,NA19159,NA19172,NA19173,NA19200,NA19202,NA19204,NA19206,NA19222,NA19239 essv9712 9 40465835 40774564 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM74A3,FAM75A3,ZNF658 NA18913 esv26212 9 40465886 40617422 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12705,esv11097,esv12017,esv10964 M 451 7 4 "" NA12004,NA12287,NA12414,NA12749,NA18909,NA19099,NA19108,NA19114,NA19225 nsv831558 9 40493873 40652019 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447655,nssv1447654,nssv1447653 M 95 2 1 "" dgv8181n71 9 40497792 40658850 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893121,nsv893124 M 6533 2 0 "" MS11396,SP51261 dgv8182n71 9 40508482 40691623 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893122,nsv893125 M 6533 0 3 FAM75A3 IS38335,SP58416,SP81068 dgv8183n71 9 40508482 40884949 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893123,nsv893127,nsv893126,nsv893128,nsv893130 M 6533 7 0 FAM74A3,FAM75A3,ZNF658 MS10548,MS11021,MS12206,MS13399,MS13744,MS15458,MS24423 nsv893129 9 40566933 41119335 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503876 S 6533 1 0 FAM74A3,FAM75A3,ZNF658 SP52122 nsv831560 9 40567914 40762268 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447656,nssv1447657 M 95 2 0 FAM74A3,FAM75A3,ZNF658 nsv893132 9 40607455 40838459 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539849 S 6533 1 0 FAM74A3,FAM75A3,ZNF658 MS14522 nsv893133 9 40638501 40868282 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535485,nssv1601050 M 6533 1 1 FAM74A3,FAM75A3,ZNF658 IS41964,MS12244 dgv8184n71 9 40638501 43613173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893144,nsv893155,nsv893150,nsv893161,nsv893134 M 6533 0 7 ANKRD20A2,ANKRD20A3,AQP7P3,FAM74A3,FAM75A3,FAM75A4,FAM75A5,FAM75A6,FAM75A7,FAM95B1,FOXD4L2,FOXD4L4,KGFLP2,LOC642929,LOC653501,MGC21881,ZNF658,ZNF658B MS14093,MS16411,MS20812,MS21314,MS21491,MS22103,MS24073 esv29783 9 40649379 40669167 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14711 S 451 3 0 "" NA11894,NA18909,NA19108 nsv893135 9 40652107 40766064 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514609 S 6533 1 0 FAM74A3,FAM75A3,ZNF658 SP56029 dgv8185n71 9 40658850 40884949 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893146,nsv893136,nsv893139,nsv893148,nsv893147,nsv893137,nsv893143 M 6533 15 0 FAM74A3,FAM75A3,ZNF658 IS30350,IS40137,MS12721,MS17232,MS17508,MS17705,MS24158,MS24265,MS25870,SP52282,SP52378,SP54761,SP56505,SP57042,SP57482 nsv831561 9 40664093 40859472 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447658 S 95 0 1 FAM74A3,FAM75A3,ZNF658 dgv8186n71 9 40691623 40838459 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893145,nsv893138 M 6533 3 0 FAM74A3,FAM75A3,ZNF658 MS17223,SP50850,SP55808 dgv8187n71 9 40691623 41329548 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893141,nsv893158,nsv893151 M 6533 3 0 FAM74A3,FAM75A3,FAM75A4,FAM75A5,FAM75A7,ZNF658 SP50857,SP51489,SP56029 nsv893142 9 40698888 40868282 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551624,nssv1536939 M 6533 0 2 FAM74A3,ZNF658 MS13028,MS18956 dgv8189n71 9 40708561 41119335 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893149,nsv893157,nsv893152 M 6533 7 0 FAM74A3,ZNF658 SP54650,SP56047,SP56789,SP56922,SP56947,SP57449,SP57941 nsv893154 9 40743335 40814035 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506545 S 6533 1 0 ZNF658 SP54370 esv27810 9 40752326 40823000 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10333 S 451 4 0 ZNF658 NA12414,NA18861,NA19147,NA19240 dgv1218n67 9 40761173 40782351 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824926,nsv824927 M 31 2 0 ZNF658 AK2,AK8 nsv893156 9 40790551 41217099 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507860 S 6533 0 1 "" SP54635 nsv893160 9 40907166 41515226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515179 S 6533 0 1 FAM75A4,FAM75A5,FAM75A7 SP56132 dgv8190n71 9 40907166 43687304 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893165,nsv893162 M 6533 9 2 ANKRD20A2,ANKRD20A3,AQP7P3,CNTNAP3B,FAM75A4,FAM75A5,FAM75A6,FAM75A7,FAM95B1,FOXD4L2,FOXD4L4,KGFLP2,LOC642929,LOC653501,MGC21881,ZNF658B IS32411,IS33023,IS38145,MS11306,MS15509,MS18217,MS22765,MS24098,MS24400,SP54171,SP81386 esv29552 9 40986570 41020268 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14985 S 451 2 0 "" NA19114,NA19225 esv26109 9 41041385 41045080 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20111 S 451 2 0 "" NA06985,NA12749 esv28272 9 41082379 41108236 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19689,esv12693 M 451 9 2 "" NA07037,NA11995,NA12004,NA12006,NA12239,NA12287,NA12749,NA12776,NA15510,NA18858,NA19190 esv29018 9 41268618 41355744 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13130,esv12499 M 451 3 0 FAM75A4,FAM75A5,FAM75A7 NA11894,NA18909,NA19108 esv28088 9 41405823 41469268 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11641,esv20821,esv18579 M 451 3 0 "" NA18909,NA19108,NA19225 nsv831565 9 41447001 41611477 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447680,nssv1447681,nssv1447682,nssv1447683 M 95 3 1 FAM75A5,FAM75A7,LOC653501,ZNF658B essv23921 9 41488850 41857393 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM75A5,FAM75A7,LOC653501,ZNF658B NA12814 esv27972 9 41552631 41641509 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12692 S 451 5 0 LOC653501,ZNF658B NA07045,NA12414,NA18861,NA19147,NA19240 nsv469526 9 41564131 41683650 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649609 M 265 0 0 Samples from several populations that are part of the HapMap project. LOC653501,ZNF658B nsv471654 9 41564132 41683650 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548848 S 48 0 1 LOC653501,ZNF658B NA15732 nsv442147 9 41590614 41599775 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC653501 nsv515140 9 41591980 41597024 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627079 S 1414 0 0 LOC653501 nsv469879 9 41645561 41826911 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649900 M 265 2 0 Samples from several populations that are part of the HapMap project. "" nsv471656 9 41645562 41826911 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551136,nssv551138,nssv551132,nssv551135,nssv551133,nssv551134,nssv551137,nssv551131 M 48 0 8 "" JK776,NA10970,NA10976,NA10979,NA15727,NA15728,NA15732,NA16688 essv6778 9 41646840 41857393 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18562 nsv831566 9 41655370 41857393 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447685 S 95 0 1 "" esv24149 9 41715001 41724863 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12900,esv16128 M 451 0 4 "" NA07037,NA12004,NA12044,NA19114 esv996404 9 41717852 41724441 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586136 S 3 0 1 "" HuRef esv24701 9 41801881 41910251 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14561 S 451 1 0 "" NA19114 nsv893172 9 41857190 42439245 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513953,nssv1513542 M 6533 1 1 ANKRD20A2,ANKRD20A3,KGFLP2,MGC21881 SP55795,SP55878 esv994034 9 41876170 42014315 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586692 S 3 1 0 KGFLP2,MGC21881 HuRef dgv2370e1 9 41949654 42136000 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6337,essv11031,essv20284,essv1447,essv17774,essv13187,essv15766,essv6020,essv24254,essv7166,essv3749,essv9941,essv8127,essv14720,essv17946,essv649,essv2660 M 271 0 0 KGFLP2 NA10831,NA10856,NA12003,NA12144,NA18547,NA18571,NA18609,NA18944,NA18961,NA18967,NA18975,NA19102,NA19131,NA19143,NA19145,NA19159,NA19206 nsv831591 9 41949825 42083568 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447779,nssv1447780 M 95 0 2 KGFLP2 esv22064 9 41961482 42332096 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13600,esv17187,esv18296,esv14383,esv13641,esv18674 M 451 10 1 KGFLP2 NA07037,NA11993,NA12287,NA12776,NA18508,NA18517,NA18523,NA19099,NA19108,NA19129,NA19225 nsv442542 9 41962506 41975187 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KGFLP2 nsv515141 9 41965232 41998144 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627080 S 1414 0 0 KGFLP2 nsv469519 9 41993173 42078781 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649532 M 265 6 3 Samples from several populations that are part of the HapMap project. KGFLP2 nsv469757 9 42054584 42222287 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649778 M 265 5 0 Samples from several populations that are part of the HapMap project. "" nsv8490 9 42062224 42072675 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19738 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 nsv6545 9 42073725 42078994 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2809 S 9 1 0 "" NA18555 nsv7428 9 42090240 42127879 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10666,nssv3720 M 9 0 0 "" NA12878,NA18956 nsv469733 9 42122307 42273499 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649754 M 265 3 3 Samples from several populations that are part of the HapMap project. "" nsv469556 9 42154359 42313389 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649667 M 265 1 0 Samples from several populations that are part of the HapMap project. "" nsv469541 9 42183694 42263729 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649651 M 265 0 0 Samples from several populations that are part of the HapMap project. "" esv1010701 9 42302281 42330265 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586206 S 3 1 0 "" HuRef esv21959 9 42428052 42461459 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11452,esv20287 M 451 1 4 FAM95B1 NA12004,NA12156,NA12239,NA12878,NA19129 esv23416 9 42709342 42822014 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18555,esv20360,esv19342 M 451 6 0 FOXD4L2,FOXD4L4 NA07037,NA07045,NA12239,NA12414,NA18861,NA19240 nsv8488 9 42858086 42864091 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18255 S 31 0 1 Samples from several populations that are part of the HapMap project. AQP7P3 NA18537 nsv8487 9 42922379 42930937 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18453 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv8486 9 43017371 43052952 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17986,nssv19208,nssv20382 M 31 2 1 Samples from several populations that are part of the HapMap project. FAM95B1 NA12155,NA18502,NA18552 nsv893173 9 43024818 43938466 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505778 S 6533 1 0 ANKRD20A2,ANKRD20A3,CNTNAP3B,FAM75A6,LOC642929 SP53964 esv28238 9 43032278 43042358 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15495 S 451 0 5 "" NA07045,NA12004,NA12749,NA12878,NA19129 nsv6542 9 43035536 43040615 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10663 S 9 1 0 "" NA18956 nsv8485 9 43118908 43125328 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17845 S 31 0 1 Samples from several populations that are part of the HapMap project. ANKRD20A2,ANKRD20A3 NA18980 nsv436621 9 43135792 44062363 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466514 S 2 0 1 Samples from several populations that are part of the HapMap project. CNTNAP3B,FAM75A6 NA18505 nsv8481 9 43139347 43141688 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20721 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv8484 9 43139350 43141691 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20811 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv8483 9 43143940 45303066 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21383,nssv19708,nssv20352,nssv17900,nssv18689,nssv21134,nssv17956,nssv21237 M 31 8 0 Samples from several populations that are part of the HapMap project. CNTNAP3B,FAM27C,FAM75A6,KGFLP1 NA18502,NA18517,NA18552,NA18853,NA18972,NA19132,NA19144,NA19173 esv27871 9 43148446 43149896 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18808 S 451 0 1 "" NA12489 esv23867 9 43150072 43203636 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12200,esv20511 M 451 9 0 "" NA11993,NA12828,NA12878,NA18508,NA18517,NA18523,NA19099,NA19129,NA19225 esv1002653 9 43156880 43179863 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586712 S 3 1 0 "" HuRef dgv8191n71 9 43170200 43608776 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893175,nsv893176,nsv893177,nsv893174 M 6533 5 0 FAM75A6 SP54058,SP56330,SP57672,SP80936,SP81091 dgv2342e1 9 43253695 44492799 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22272,essv15282,essv12156,essv12834,essv4913,essv2431,essv5374,essv18368,essv22373,essv14319,essv23818,essv20774,essv15824,essv16335,essv19086,essv8224,essv2304,essv9671,essv32,essv395 M 271 0 0 CNTNAP3B,FAM75A6,KGFLP1 NA07055,NA12146,NA12249,NA12762,NA12763,NA12875,NA18561,NA18563,NA18913,NA18940,NA18971,NA18991,NA18999,NA19094,NA19101,NA19116,NA19120,NA19193,NA19194,NA19223 esv26888 9 43253855 43340907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17291,esv18167,esv11289 M 451 0 10 "" NA07037,NA11894,NA12044,NA12828,NA18523,NA18861,NA19099,NA19114,NA19147,NA19225 nsv436091 9 43255252 44409217 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466515 S 2 1 0 CNTNAP3B,FAM75A6,KGFLP1 NA15510 nsv515142 9 43255656 43725112 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627081 S 1414 0 0 CNTNAP3B,FAM75A6 nsv442543 9 43255666 43735571 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CNTNAP3B,FAM75A6 nsv893178 9 43261162 43677629 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513636,nssv1505488 M 6533 1 1 CNTNAP3B,FAM75A6 SP53572,SP55808 nsv893179 9 43261162 43938466 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499191,nssv1500390,nssv1515792 M 6533 1 2 CNTNAP3B,FAM75A6 SP50046,SP50156,SP56271 nsv821662 9 43325247 44807141 CNV Gain Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421230,nssv1421231,nssv1421234,nssv1421232,nssv1421233 M 31 5 0 CNTNAP3B,FAM75A6,KGFLP1 esv1005820 9 43326288 43530289 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587158 S 3 0 1 "" HuRef esv29698 9 43362360 43366047 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11813 S 451 1 0 "" NA12489 nsv893180 9 43384131 43616717 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517000 S 6533 1 0 FAM75A6 SP57021 nsv893181 9 43384131 43938466 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513763 S 6533 1 0 CNTNAP3B,FAM75A6 SP55842 esv26116 9 43405676 43427209 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21195,esv13797,esv19958,esv13471 M 451 5 5 "" NA07037,NA12004,NA12044,NA12239,NA12749,NA15510,NA19108,NA19114,NA19147,NA19190 esv25976 9 43444756 43445902 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20793 S 451 0 2 "" NA19108,NA19114 nsv893182 9 43444850 43674189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507446 S 6533 0 1 CNTNAP3B,FAM75A6 SP54614 nsv893183 9 43444850 43938466 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507426,nssv1499113 M 6533 0 2 CNTNAP3B,FAM75A6 SP50077,SP54725 nsv831568 9 43454357 43631608 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447692,nssv1447691 M 95 1 1 CNTNAP3B,FAM75A6 dgv2346e1 9 43469273 44406980 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4932,essv17873,essv9856,essv1799 M 271 0 0 CNTNAP3B,FAM75A6,KGFLP1 NA10857,NA18537,NA18971,NA19144 dgv2347e1 9 43469273 44813196 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5864,essv11339,essv13250,essv20847,essv6071,essv18503,essv21573,essv5 M 271 0 0 CNTNAP3B,FAM75A6,KGFLP1 NA11829,NA12146,NA12763,NA18555,NA18621,NA18945,NA19128,NA19131 dgv8192n71 9 43493496 43730292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893205,nsv893184,nsv893191,nsv893194,nsv893188,nsv893189,nsv893206,nsv893195,nsv893203,nsv893202,nsv893204,nsv893193 M 6533 18 0 CNTNAP3B,FAM75A6 IS31123,IS31564,IS34434,IS35025,IS35558,IS37210,IS37338,IS38110,MS15312,MS24162,SP52719,SP54581,SP54760,SP55034,SP55360,SP56144,SP56248,SP58205 dgv8193n71 9 43515795 44779627 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893185,nsv893289 M 6533 0 8 CNTNAP3B,FAM75A6,KGFLP1 IS30319,IS36022,IS38078,MS11105,MS13135,MS19267,MS23609,MS25172 dgv8194n71 9 43520820 43641682 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893210,nsv893198,nsv893197,nsv893186 M 6533 4 0 CNTNAP3B,FAM75A6 IS36825,IS39716,MS17335,SP55749 dgv8195n71 9 43520820 43641682 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893199,nsv893187 M 6533 52 11 CNTNAP3B,FAM75A6 IS34184,IS34684,IS34737,IS35041,IS36728,IS37621,IS38291,IS39205,IS39940,IS41296,IS41840,MS10590,MS10593,MS10702,MS10816,MS10818,MS10970,MS11361,MS11641,MS12129,MS12615,MS13363,MS14266,MS14289,MS14679,MS15340,MS15429,MS15453,MS15573,MS15679,MS15922,MS17492,MS17537,MS18124,MS18263,MS18307,MS18929,MS19008,MS19669,MS20708,MS20878,MS21022,MS21201,MS21343,MS21958,MS22166,MS23257,MS23787,MS24381,MS25042,MS25254,MS25369,MS25484,MS25769,MS26001,MS26119,SP51179,SP56748,SP58209,SP58443,SP81114,SP81275,SP81348 dgv8196n71 9 43520820 43712162 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893190,nsv893200 M 6533 0 4 CNTNAP3B,FAM75A6 MS17605,MS25304,SP55747,SP57741 dgv8197n71 9 43520820 44797463 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893267,nsv893278,nsv893290,nsv893287,nsv893192,nsv893209,nsv893274,nsv893212,nsv893251,nsv893220,nsv893230,nsv893285,nsv893282 M 6533 278 333 CNTNAP3B,FAM75A6,KGFLP1 IS30165,IS30197,IS30243,IS30278,IS30280,IS30292,IS30294,IS30336,IS30350,IS30368,IS30369,IS30483,IS30516,IS30522,IS30564,IS30620,IS30635,IS30814,IS30837,IS30838,IS31169,IS31172,IS31218,IS31283,IS31602,IS31722,IS31748,IS31835,IS32079,IS32289,IS32803,IS32810,IS32998,IS33115,IS33219,IS33240,IS33345,IS33403,IS33419,IS33508,IS33592,IS33665,IS33705,IS33763,IS33788,IS33836,IS33887,IS33959,IS33970,IS34019,IS34081,IS34134,IS34141,IS34358,IS34363,IS34510,IS34523,IS34632,IS34642,IS34648,IS34745,IS34775,IS34811,IS34909,IS34981,IS35078,IS35114,IS35145,IS35176,IS35245,IS35287,IS35336,IS35441,IS35495,IS35510,IS35571,IS35608,IS35667,IS35691,IS35717,IS35777,IS35800,IS35853,IS35895,IS35903,IS36011,IS36099,IS36269,IS36330,IS36337,IS36450,IS36465,IS36517,IS36533,IS36600,IS36612,IS36735,IS36798,IS36879,IS36911,IS36955,IS36957,IS36973,IS37040,IS37156,IS37194,IS37214,IS37292,IS37329,IS37422,IS37435,IS37498,IS37646,IS37753,IS37776,IS37960,IS37992,IS38065,IS38075,IS38092,IS38179,IS38182,IS38184,IS38191,IS38251,IS38330,IS38333,IS38335,IS38351,IS38395,IS38397,IS38399,IS38412,IS38469,IS38472,IS38508,IS38525,IS38579,IS38627,IS38648,IS38649,IS38650,IS38668,IS38840,IS39095,IS39250,IS39316,IS39361,IS39391,IS39428,IS39473,IS39517,IS39650,IS39881,IS39999,IS40063,IS40137,IS40156,IS40192,IS40234,IS40310,IS40319,IS40334,IS40416,IS40449,IS40473,IS40502,IS40511,IS40520,IS40538,IS40544,IS40573,IS40639,IS40728,IS40738,IS40877,IS40920,IS40947,IS41179,IS41196,IS41347,IS41433,IS41511,IS41524,IS41648,IS41664,IS41769,IS41831,IS41921,IS41926,IS41971,MS10102,MS10119,MS10169,MS10174,MS10204,MS10278,MS10282,MS10287,MS10361,MS10381,MS10443,MS10545,MS10567,MS10596,MS10611,MS10626,MS10666,MS10686,MS10695,MS10698,MS10714,MS10737,MS10777,MS10825,MS10837,MS10872,MS10950,MS10957,MS10959,MS10973,MS10983,MS11031,MS11105,MS11137,MS11218,MS11249,MS11298,MS11307,MS11331,MS11358,MS11396,MS11451,MS11481,MS11579,MS11629,MS11663,MS11741,MS11755,MS11971,MS11980,MS12005,MS12039,MS12050,MS12138,MS12157,MS12202,MS12206,MS12366,MS12439,MS12520,MS12545,MS12577,MS12602,MS12638,MS12657,MS12718,MS12823,MS12837,MS12983,MS13045,MS13068,MS13093,MS13098,MS13219,MS13252,MS13253,MS13288,MS13358,MS13373,MS13401,MS13444,MS13448,MS13461,MS13469,MS13502,MS13521,MS13553,MS13567,MS13694,MS13716,MS13810,MS13866,MS13867,MS14019,MS14258,MS14264,MS14290,MS14304,MS14334,MS14353,MS14639,MS14644,MS14681,MS14905,MS14913,MS15030,MS15065,MS15066,MS15090,MS15150,MS15168,MS15191,MS15199,MS15206,MS15216,MS15220,MS15234,MS15242,MS15269,MS15277,MS15317,MS15359,MS15428,MS15458,MS15508,MS15541,MS15628,MS15637,MS15686,MS15715,MS15753,MS15802,MS15808,MS15817,MS15822,MS15859,MS15915,MS16008,MS16048,MS16068,MS16137,MS16158,MS16176,MS16206,MS16248,MS16286,MS16347,MS16361,MS16399,MS16408,MS16494,MS16537,MS16564,MS16667,MS16707,MS16708,MS16792,MS16801,MS16847,MS16859,MS16917,MS16918,MS16926,MS16981,MS17091,MS17316,MS17319,MS17363,MS17373,MS17385,MS17394,MS17431,MS17438,MS17447,MS17453,MS17484,MS17609,MS17674,MS17739,MS17785,MS17798,MS17806,MS17825,MS17842,MS17879,MS17883,MS17906,MS17909,MS18011,MS18021,MS18170,MS18205,MS18276,MS18278,MS18290,MS18400,MS18406,MS18756,MS18828,MS18853,MS18876,MS18916,MS18917,MS18935,MS18976,MS18978,MS18999,MS19068,MS19226,MS19289,MS19414,MS19460,MS19483,MS19533,MS19556,MS19842,MS20020,MS20170,MS20195,MS20211,MS20247,MS20251,MS20355,MS20367,MS20503,MS20543,MS20550,MS20655,MS20717,MS20785,MS20797,MS20854,MS20888,MS20996,MS21017,MS21088,MS21136,MS21188,MS21242,MS21308,MS21397,MS21457,MS21491,MS21506,MS21517,MS21525,MS21795,MS21833,MS21924,MS21925,MS22076,MS22093,MS22122,MS22154,MS22177,MS22499,MS22616,MS22678,MS22707,MS22798,MS22854,MS22863,MS22930,MS22970,MS22971,MS23117,MS23120,MS23133,MS23210,MS23237,MS23330,MS23456,MS23486,MS23531,MS23542,MS23582,MS23583,MS23609,MS23703,MS23713,MS23868,MS23878,MS23916,MS23958,MS23977,MS23983,MS24001,MS24032,MS24083,MS24135,MS24158,MS24210,MS24260,MS24272,MS24339,MS24350,MS24357,MS24423,MS24426,MS24450,MS24476,MS24586,MS24587,MS24620,MS24736,MS24792,MS24833,MS24837,MS24854,MS24877,MS24886,MS24971,MS25025,MS25099,MS25112,MS25139,MS25184,MS25227,MS25244,MS25402,MS25414,MS25451,MS25486,MS25603,MS25625,MS25627,MS25695,MS25747,MS25756,MS25768,MS25774,MS25813,MS25839,MS25853,MS25870,MS25891,MS25976,MS25983,MS26019,MS26049,MS26120,MS26144,SP50544,SP50608,SP50612,SP50627,SP50646,SP50700,SP50830,SP51242,SP51259,SP52282,SP52320,SP52371,SP52376,SP52412,SP52456,SP52464,SP52569,SP52621,SP52701,SP52724,SP52830,SP53154,SP53251,SP53323,SP53413,SP53426,SP53449,SP53493,SP53508,SP53602,SP53732,SP53834,SP53914,SP54090,SP54099,SP54148,SP54326,SP54885,SP54913,SP54976,SP55007,SP55261,SP55369,SP55417,SP55460,SP55498,SP56395,SP56633,SP56758,SP56797,SP56952,SP57037,SP57042,SP57176,SP57181,SP57589,SP57662,SP57726,SP57730,SP57831,SP57865,SP57875,SP58132,SP58306,SP58480,SP81060,SP81064,SP81117,SP81213,SP81255,SP81260,SP81273,SP81365,SP81417,SP81437,SP81503,SP81526,SP81560 dgv8198n71 9 43521249 43938466 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893196,nsv893211,nsv893229 M 6533 8 9 CNTNAP3B,FAM75A6 SP50029,SP50082,SP50120,SP50954,SP51051,SP51086,SP51132,SP51307,SP52834,SP53287,SP53349,SP54956,SP55655,SP56172,SP56396,SP57243,SP57463 dgv1219n67 9 43530064 43599682 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824929,nsv824928 M 31 0 3 FAM75A6 AK4,NA18552,NA18999 nsv824930 9 43530064 43627120 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434553 S 31 0 1 CNTNAP3B,FAM75A6 NA18570 dgv8199n71 9 43532092 43677629 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893201,nsv893215,nsv893224,nsv893223 M 6533 14 8 CNTNAP3B,FAM75A6 IS30051,IS30054,IS31915,IS34659,IS37841,IS38187,IS38271,IS38439,IS39393,IS40237,IS40955,IS41803,MS14566,MS15873,MS16066,MS17953,MS18665,MS23789,MS23805,SP51241,SP55032,SP81353 dgv8200n71 9 43532092 43730292 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893207,nsv893228,nsv893227 M 6533 45 6 CNTNAP3B,FAM75A6 IS30332,IS31326,IS33868,IS35682,IS36887,IS37144,IS37207,IS37291,IS37351,IS37554,IS38002,IS38242,IS38495,IS38610,IS39330,IS39353,IS39509,MS11389,MS12265,MS12365,MS12986,MS13157,MS13232,MS13552,MS13605,MS13793,MS14281,MS14907,MS15212,MS15386,MS15803,MS16573,MS16834,MS16947,MS17306,MS17974,MS18028,MS18077,MS18694,MS18947,MS19677,MS20117,MS21477,MS21628,MS22814,MS23412,MS24020,MS24052,MS24285,MS25375,SP52552 dgv8201n71 9 43532092 43938466 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893240,nsv893208 M 6533 5 0 CNTNAP3B,FAM75A6 SP52053,SP54049,SP54685,SP55264,SP56108 dgv8202n71 9 43559955 43641682 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893213,nsv893222 M 6533 23 31 CNTNAP3B,FAM75A6 IS30118,IS30138,IS30218,IS30238,IS30267,IS30284,IS30302,IS30316,IS32766,IS33663,IS33759,IS34804,IS34820,IS35167,IS35319,IS36463,IS37963,IS38098,IS38210,IS38298,IS38350,IS38542,IS38635,IS39637,IS39678,IS40145,IS40298,IS40665,IS40840,IS41664,IS41889,MS12432,MS12642,MS13401,MS14526,MS14719,MS15097,MS18256,MS19365,MS19637,MS20269,MS22209,MS24225,MS24900,MS25239,MS25429,MS25888,MS26128,SP51477,SP52704,SP53513,SP55388,SP56938,SP57278 nsv893214 9 43559955 43660188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1562061 S 6533 0 1 CNTNAP3B,FAM75A6 MS25345 dgv8203n71 9 43559955 43683382 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893225,nsv893216 M 6533 5 0 CNTNAP3B,FAM75A6 IS34443,IS35146,IS36400,IS37743,SP53415 dgv8204n71 9 43559955 43730292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893217,nsv893219,nsv893226,nsv893218 M 6533 9 0 CNTNAP3B,FAM75A6 IS35099,IS38349,IS39528,MS10896,MS14637,MS21820,MS23174,MS24101,SP56904 nsv893221 9 43570503 43616717 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550288,nssv1557890,nssv1559938,nssv1536890,nssv1564166,nssv1597227,nssv1544730 M 6533 5 2 FAM75A6 IS30174,IS40776,MS13002,MS16455,MS18392,MS22968,MS24223 esv23032 9 43593768 43599730 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14960,esv17173 M 451 0 2 "" NA18909,NA19108 nsv893231 9 43594114 43641682 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524389,nssv1595244,nssv1558797,nssv1554404,nssv1542578,nssv1523499,nssv1573389,nssv1560367,nssv1537433,nssv1585174,nssv1529728,nssv1562998,nssv1527409,nssv1521883,nssv1516972,nssv1519961,nssv1527870,nssv1523058,nssv1527892,nssv1520356,nssv1521619,nssv1589876,nssv1540010,nssv1563189,nssv1584140,nssv1523176,nssv1529146,nssv1563788,nssv1535669,nssv1530022,nssv1533146,nssv1520150,nssv1561204,nssv1545422,nssv1581338,nssv1551868,nssv1521433,nssv1592042,nssv1595315,nssv1553956,nssv1562287,nssv1550295,nssv1544814,nssv1551197,nssv1571781,nssv1556959,nssv1589676,nssv1596431,nssv1562530,nssv1563438,nssv1527027,nssv1533324,nssv1538938,nssv1547452,nssv1534192,nssv1558317,nssv1573460,nssv1557193,nssv1550078,nssv1590963,nssv1599253,nssv1568410,nssv1548199,nssv1566575,nssv1532981,nssv1526834,nssv1529312,nssv1555234,nssv1540874,nssv1599725,nssv1549055,nssv1539298,nssv1539448,nssv1561407,nssv1535022,nssv1528568,nssv1584278,nssv1583420,nssv1547554,nssv1521497,nssv1560169,nssv1556217,nssv1583475,nssv1577630,nssv1536310,nssv1578423,nssv1519902,nssv1560578,nssv1564606,nssv1560305,nssv1577668,nssv1523988,nssv1555593,nssv1562859,nssv1566244,nssv1528390,nssv1536829,nssv1544085,nssv1521417,nssv1559764,nssv1589705,nssv1561077,nssv1560139,nssv1548885,nssv1541908,nssv1532089,nssv1576334,nssv1522264,nssv1542156,nssv1565131,nssv1540531,nssv1535132,nssv1589414,nssv1562941,nssv1553989,nssv1577998,nssv1533120,nssv1520129,nssv1525661,nssv1527880,nssv1549163,nssv1543904,nssv1593518,nssv1526423,nssv1526030,nssv1550306,nssv1588330,nssv1584913,nssv1523695,nssv1526520,nssv1558661,nssv1521261,nssv1556143,nssv1565016,nssv1591044,nssv1590212,nssv1552632,nssv1585376,nssv1499597,nssv1588375 M 6533 16 124 CNTNAP3B IS30076,IS30255,IS30336,IS30369,IS30620,IS30814,IS31283,IS32810,IS33345,IS33403,IS34019,IS34510,IS34523,IS34632,IS34775,IS35571,IS36465,IS36517,IS36879,IS36955,IS37194,IS37329,IS37435,IS38182,IS38185,IS38351,IS38397,IS38400,IS38421,IS38472,IS38611,IS38627,IS39194,IS39428,IS40192,IS40224,IS40511,IS41511,IS41780,MS10119,MS10174,MS10714,MS10959,MS11020,MS11031,MS11097,MS11481,MS11971,MS12039,MS12366,MS12718,MS12983,MS13206,MS13867,MS14290,MS14334,MS14652,MS14905,MS15066,MS15541,MS15686,MS15802,MS16158,MS16248,MS16521,MS16792,MS17385,MS17447,MS17739,MS17906,MS18011,MS18116,MS18278,MS18400,MS18406,MS18828,MS18999,MS19556,MS20440,MS20503,MS20785,MS21244,MS21460,MS21833,MS21863,MS22297,MS22492,MS23210,MS23486,MS23542,MS24135,MS24339,MS24357,MS24426,MS24450,MS24584,MS24837,MS24877,MS24971,MS25486,MS25625,MS25756,MS25782,MS25813,MS25891,MS26019,SP50043,SP50608,SP50627,SP50700,SP50709,SP50830,SP52320,SP52371,SP52376,SP52400,SP52464,SP52625,SP52872,SP53602,SP53732,SP54057,SP54148,SP54326,SP55007,SP56758,SP56952,SP57010,SP57574,SP57610,SP57875,SP58077,SP58408,SP81060,SP81061,SP81064,SP81213,SP81273,SP81461,SP81503 dgv8205n71 9 43594114 43683382 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893232,nsv893260,nsv893261 M 6533 33 12 CNTNAP3B IS30407,IS30593,IS32150,IS35561,IS36412,IS40086,IS40104,IS40129,IS41837,MS10391,MS13019,MS14601,MS15014,MS15060,MS15084,MS15610,MS15916,MS16381,MS16934,MS17438,MS18176,MS18212,MS18436,MS19420,MS19930,MS20406,MS20546,MS22114,MS22505,MS23488,MS23957,MS24183,MS24280,MS25696,SP50624,SP50831,SP51167,SP52353,SP52506,SP53709,SP53937,SP56215,SP81131,SP81448,SP81513 dgv8206n71 9 43594114 43687304 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893234,nsv893254,nsv893253,nsv893235,nsv893252,nsv893245,nsv893233,nsv893244,nsv893246,nsv893258 M 6533 54 0 CNTNAP3B IS30140,IS30993,IS31251,IS38264,MS10375,MS11326,MS11431,MS12564,MS12609,MS12624,MS12868,MS13629,MS13735,MS14216,MS14978,MS16629,MS18261,MS18652,MS19397,MS19917,MS20152,MS20830,MS20997,MS21178,MS21677,MS22321,MS23163,MS25216,SP50134,SP50691,SP50791,SP51049,SP51231,SP51250,SP51398,SP52633,SP52656,SP52716,SP53876,SP54621,SP54983,SP55542,SP55795,SP56965,SP56991,SP57061,SP58062,SP58557,SP81015,SP81264,SP81354,SP81383,SP81399,SP81491 dgv8207n71 9 43594114 43700989 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893236,nsv893262 M 6533 9 0 CNTNAP3B IS33150,IS40503,MS11934,MS17231,MS18480,MS22440,MS25950,SP50870,SP56400 dgv8208n71 9 43594114 43730292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893255,nsv893271,nsv893275,nsv893238,nsv893239,nsv893256 M 6533 9 0 CNTNAP3B IS30781,IS33332,IS38144,IS41331,MS12688,MS15630,MS17693,MS18715,SP81387 dgv8209n71 9 43594114 43730292 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893265,nsv893263,nsv893272,nsv893270,nsv893264,nsv893247,nsv893237,nsv893249,nsv893248 M 6533 72 22 CNTNAP3B IS30325,IS30835,IS30960,IS33839,IS34066,IS34508,IS34748,IS34760,IS35422,IS36077,IS38143,IS38265,IS38334,IS38501,IS38601,IS40347,IS40966,IS41317,IS41997,MS10187,MS10606,MS10669,MS10951,MS10991,MS11087,MS11273,MS11333,MS11733,MS12555,MS12572,MS12608,MS12644,MS12963,MS13011,MS13162,MS13751,MS13808,MS14296,MS14454,MS14837,MS15480,MS15658,MS15709,MS15768,MS15952,MS16036,MS16125,MS16228,MS16580,MS16709,MS17232,MS17285,MS17529,MS17773,MS18255,MS18873,MS18940,MS19023,MS19135,MS19571,MS19852,MS20011,MS21528,MS23194,MS23451,MS24172,MS24245,MS24444,MS24705,MS24783,MS24864,MS25284,MS25553,MS25675,MS25725,MS26145,SP50766,SP50908,SP51235,SP52761,SP52772,SP52893,SP53144,SP53240,SP53972,SP53987,SP55110,SP55179,SP55302,SP56780,SP57455,SP58536,SP81003,SP81339 dgv8210n71 9 43594114 44821332 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893291,nsv893242,nsv893288,nsv893241,nsv893259,nsv893257 M 6533 33 0 CNTNAP3B,KGFLP1 IS30035,IS33027,IS33372,IS33852,IS34872,IS34931,IS36196,IS39322,IS41171,MS10548,MS11165,MS11726,MS12506,MS16108,MS16209,MS16309,MS17056,MS17911,MS18104,MS18326,MS18976,MS19438,MS19599,MS23401,MS24265,MS24328,MS25308,SP50633,SP50822,SP51261,SP58161,SP58355,SP58382 nsv824932 9 43598936 43599682 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430726,nssv1439816,nssv1433006,nssv1435246,nssv1431469,nssv1421876,nssv1432224,nssv1423575,nssv1428462,nssv1427646,nssv1436001,nssv1424367 M 31 0 12 "" AK10,AK16,AK18,AK20,AK8,NA18537,NA18566,NA18582,NA18942,NA18972,NA18997,NA18999 dgv8211n71 9 43599125 43683382 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893268,nsv893243 M 6533 0 6 CNTNAP3B IS30365,IS32775,IS38219,MS14779,MS17121,SP81562 dgv8212n71 9 43599125 43938466 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893266,nsv893250 M 6533 0 11 CNTNAP3B SP50144,SP51309,SP54561,SP54604,SP54704,SP55565,SP55822,SP55868,SP56012,SP56085,SP56331 nsv893269 9 43614077 43700989 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541639,nssv1541885,nssv1591241 M 6533 2 1 CNTNAP3B IS38659,MS15397,MS15525 dgv8213n71 9 43614077 43938466 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893281,nsv893284,nsv893273,nsv893286,nsv893277 M 6533 20 22 CNTNAP3B SP50097,SP50695,SP50832,SP50989,SP51025,SP51061,SP51353,SP52003,SP52160,SP52165,SP52338,SP52497,SP52951,SP53060,SP53276,SP53734,SP54355,SP54395,SP54448,SP54480,SP54489,SP54768,SP54776,SP55021,SP55100,SP55318,SP55765,SP55966,SP56002,SP56104,SP56197,SP56289,SP56373,SP56926,SP57013,SP57238,SP57269,SP57322,SP80936,SP80955,SP80977,SP81067 nsv893276 9 43616717 43730292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555597,nssv1527447,nssv1562324,nssv1529018,nssv1529151,nssv1522271 M 6533 0 6 CNTNAP3B MS21460,MS25511,SP52872,SP58432,SP81422,SP81461 nsv824933 9 43626720 43673739 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423576 S 31 0 1 CNTNAP3B NA18999 esv22739 9 43632017 43782888 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19719,esv18311 M 451 4 5 CNTNAP3B NA12004,NA12287,NA12414,NA12749,NA18909,NA19099,NA19108,NA19114,NA19225 nsv893279 9 43641682 43720352 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558789,nssv1542338,nssv1532204 M 6533 3 0 CNTNAP3B MS10733,MS15752,MS23541 dgv8214n71 9 43641682 43730292 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893280,nsv893283 M 6533 20 3 CNTNAP3B IS30163,IS31098,IS32517,IS35471,IS35536,IS35728,IS37029,IS37713,IS38348,IS38585,IS38995,IS39000,IS39525,MS10843,MS12561,MS14500,MS16423,SP53859,SP56246,SP57445,SP57736,SP58558,SP81189 nsv436092 9 44010707 44010768 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466518 S 2 1 0 "" NA15510 esv21713 9 44011107 44055066 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9914 S 451 1 0 "" NA19108 nsv831569 9 44070417 44138573 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447693,nssv1447694 M 95 0 2 "" nsv831571 9 44070417 44178436 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447696 S 95 1 0 "" esv29690 9 44083096 44118479 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12488,esv15498 M 451 3 2 "" NA12489,NA18508,NA18523,NA19129,NA19190 nsv831572 9 44088119 44206623 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447697,nssv1447698 M 95 0 2 KGFLP1 esv995332 9 44157108 44377706 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586684 S 3 1 0 KGFLP1 HuRef nsv6541 9 44159070 44190302 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10659 S 9 1 0 KGFLP1 NA18956 nsv821355 9 44183083 44219877 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420809 S 1 0 1 KGFLP1 NA10851 esv28304 9 44183083 44375254 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17990,esv19894,esv13537,esv16738,esv14339 M 451 18 1 KGFLP1 NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12489,NA12878,NA18517,NA18858,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240 nsv442544 9 44183430 44213237 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KGFLP1 nsv515143 9 44184632 44199432 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627082 S 1414 0 0 KGFLP1 dgv1220n67 9 44195186 44216411 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824937,nsv824936,nsv824935,nsv824934 M 31 0 7 KGFLP1 AK16,AK20,AK6,NA18526,NA18564,NA18570,NA18947 nsv7423 9 44217596 44319890 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9765,nssv9764,nssv803,nssv10660,nssv3717,nssv802 M 9 0 0 KGFLP1 NA12878,NA18507,NA18956,NA19240 essv23039 9 44245620 44492799 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. KGFLP1 NA12812 nsv831573 9 44266979 44461585 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447700,nssv1447699 M 95 0 2 "" esv23731 9 44375516 44410182 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15975 S 451 0 1 "" NA19225 esv23374 9 44410182 44417202 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15810 S 451 1 0 "" NA19114 esv24044 9 44451894 44616609 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11411,esv14113,esv15151,esv13788,esv10003,esv15972,esv16482 M 451 7 10 "" NA07037,NA11894,NA12004,NA12044,NA12239,NA12287,NA12489,NA12749,NA12828,NA18523,NA18861,NA18909,NA19099,NA19114,NA19147,NA19190 esv22757 9 44666667 44814086 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16806,esv11691,esv14700,esv11141,esv14879,esv18346,esv18112,esv18309 M 451 8 6 "" NA07045,NA11995,NA12004,NA12006,NA12239,NA12287,NA12414,NA18517,NA18523,NA18909,NA19114,NA19129,NA19225,NA19240 dgv194e180 9 44666747 44813571 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994373,esv988098 M 3 1 0 "" HuRef esv2421976 9 44667855 44777523 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5027887,essv5040704,essv5115943,essv5096712,essv5155663,essv5036623,essv5102922,essv5038671,essv5114563,essv5099884,essv5139312,essv5143370,essv5089083,essv5057150,essv5009789,essv5133364,essv5140519,essv5141402,essv5138352,essv5117367,essv5126084,essv5096067,essv5088081,essv5082196,essv5133067,essv5107056,essv5041158,essv5112351,essv5067289,essv5098461,essv5010343,essv5045792,essv5010023,essv5098056,essv5131956,essv5155216,essv5061584,essv5033569,essv5109439,essv5038792,essv5052350,essv5153376,essv5101549,essv5022270,essv5105112,essv5084740,essv5136433,essv5157577,essv5141845,essv5063754,essv5123552,essv5108994,essv5008813,essv5016993,essv5115793,essv5053675,essv5126365,essv5132587,essv5051542,essv5147937,essv5045215,essv5003280,essv5130369,essv5143917,essv5145344,essv5073477,essv5154637,essv5032634,essv5020628,essv5053183,essv5032755,essv5070777,essv5089420,essv5056371,essv5095825,essv5136774,essv5094644,essv5103125,essv5002331,essv5086183,essv5142219,essv5091256,essv5058754,essv5059180,essv5038824,essv5146301,essv5040372,essv5043345,essv5003377,essv5152120,essv5024953,essv5147194,essv5009045,essv5086529,essv5059063,essv5121086,essv5043634,essv5071401,essv5078940,essv5085542,essv5137492,essv5142984,essv5123589,essv5160668,essv5011690,essv5127723,essv5106124,essv5023708,essv5110022,essv5088779,essv5114692,essv5062225,essv5068864,essv5084495,essv5111121,essv5089506,essv5003368,essv5057818,essv5018032,essv5130622,essv5014263,essv5074846,essv5063288,essv5122599,essv5056774,essv5099698,essv5058240,essv5069635,essv5062480,essv5040119,essv5045099,essv5036236,essv5003660,essv5082636,essv5039905,essv5120319,essv5114127,essv5058849,essv5135008,essv5120866,essv5058496,essv5088885,essv5023719,essv5156040,essv5085001,essv5119717,essv5152773,essv5129745,essv5159336,essv5083001,essv5099562,essv5159251,essv5023313,essv5135784,essv5007318,essv5114983,essv5069816,essv5076611,essv5016579,essv5035190,essv5130439,essv5094565,essv5037171,essv5152465,essv5144437,essv5047415,essv5014589,essv5149942,essv5043032,essv5148485,essv5143265,essv5139178,essv5123136,essv5097018,essv5098761,essv5145006,essv5106957,essv5058744,essv5093591,essv5093344,essv5119830,essv5126834,essv5092092,essv5109934,essv5122982,essv5160076,essv5133547,essv5046928,essv5100706,essv5109305,essv5032268,essv5005894,essv5007059,essv5066245,essv5040514,essv5152762,essv5074775,essv5141962,essv5070091,essv5120392,essv5124043,essv5139814,essv5137150,essv5084121,essv5076021,essv5036638,essv5070014,essv5140918,essv5050643,essv5065687,essv5068079,essv5059557,essv5032788,essv5144213,essv5133679,essv5003061,essv5016172,essv5115822,essv5078517,essv5128410,essv5116738,essv5004550,essv5080666,essv5130472,essv5076916,essv5116238,essv5049330,essv5135920,essv5037216,essv5081084,essv5082457,essv5068439,essv5014111,essv5076030,essv5154587,essv5100636,essv5028581,essv5030684,essv5129702,essv5096622,essv5138623,essv5064215,essv5033736,essv5048175,essv5093924,essv5091179,essv5062552,essv5061740,essv5035143,essv5133117,essv5047578,essv5002073,essv5151313,essv5021342,essv5087820,essv5005155,essv5021226,essv5155444,essv5119019,essv5061088,essv5053368,essv5055942,essv5090622,essv5075834,essv5127291,essv5141129,essv5072147,essv5082081,essv5059601,essv5126966,essv5159229,essv5042511,essv5036164,essv5073964,essv5029085,essv5146711,essv5143450,essv5118732,essv5068702,essv5079175,essv5079262,essv5087753,essv5060078,essv5053171,essv5028956,essv5007279,essv5043731,essv5068966,essv5069671,essv5039201,essv5091479,essv5122954,essv5153124,essv5149887,essv5140452,essv5146855,essv5156769,essv5044169,essv5095860,essv5119852,essv5044556,essv5068389,essv5037150,essv5053751,essv5073696,essv5021868,essv5126138,essv5008456,essv5078607,essv5132172,essv5142188,essv5047260,essv5095336,essv5129765,essv5102060,essv5094825,essv5101123,essv5082130,essv5102880,essv5015253,essv5101068,essv5120018,essv5038624,essv5088104,essv5158038,essv5005233,essv5147314,essv5004406,essv5011127,essv5082704,essv5018830,essv5130139,essv5140337,essv5079572,essv5060756,essv5139494,essv5049329,essv5103977,essv5014183,essv5140495,essv5156118,essv5063061,essv5091086,essv5067050,essv5140046,essv5102992,essv5152337,essv5149564,essv5071848,essv5074694,essv5133666,essv5155561,essv5054942,essv5138123,essv5085719,essv5074370,essv5027071,essv5096872,essv5093715,essv5141659,essv5153994,essv5078347,essv5116803,essv5102145,essv5068036,essv5151813,essv5054951,essv5078160,essv5003892,essv5125746,essv5099936,essv5042988,essv5135810,essv5021939,essv5031914,essv5023848,essv5043450,essv5013753,essv5026010,essv5065406,essv5151121,essv5130581,essv5023329,essv5037539,essv5121430,essv5136972,essv5148304,essv5115470,essv5047782,essv5002779,essv5143669,essv5110857,essv5123329,essv5085861,essv5024784,essv5032998,essv5049811,essv5071585,essv5104481,essv5107717,essv5080840,essv5155269,essv5087289,essv5106106,essv5089431,essv5118002,essv5143955,essv5061163,essv5135110,essv5065108,essv5066558,essv5129475,essv5050500,essv5104601,essv5002798,essv5030602,essv5123721,essv5035470,essv5091789,essv5123620,essv5025132,essv5074196,essv5025329,essv5119871,essv5111851,essv5025279,essv5003647,essv5141251,essv5112643,essv5036447,essv5074563,essv5037164,essv5064946,essv5133592,essv5037310,essv5017888,essv5041339,essv5007414,essv5095053,essv5007238,essv5064599,essv5145139,essv5122386,essv5150618,essv5113441,essv5094090,essv5015058,essv5103145,essv5040700,essv5043961,essv5004924,essv5099605,essv5157464,essv5039663,essv5128504,essv5058367,essv5141107,essv5129619,essv5084115,essv5035263,essv5113229,essv5057940,essv5095770,essv5057521,essv5030112,essv5140594,essv5105336,essv5040948,essv5085707,essv5100924,essv5072715,essv5115847,essv5062240,essv5079959,essv5107404,essv5079620,essv5019756,essv5098698,essv5034070,essv5102115,essv5030762,essv5075393,essv5127479,essv5064422,essv5042529,essv5127159,essv5086287,essv5095426,essv5085294,essv5100625,essv5070947,essv5142736,essv5046346,essv5070676,essv5132282,essv5134827,essv5081381,essv5112281,essv5032368,essv5100306,essv5096751,essv5122417,essv5023803,essv5043065,essv5146325,essv5064788,essv5126278,essv5045333 M 1184 0 508 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07037,NA07045,NA07051,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10839,NA10840,NA10843,NA10846,NA10850,NA10852,NA10854,NA10855,NA10859,NA10861,NA10863,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11891,NA11894,NA11917,NA11918,NA11919,NA11930,NA11992,NA11993,NA11994,NA12003,NA12005,NA12043,NA12045,NA12057,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12239,NA12248,NA12249,NA12272,NA12275,NA12282,NA12283,NA12287,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12489,NA12707,NA12718,NA12739,NA12748,NA12749,NA12752,NA12753,NA12760,NA12762,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12812,NA12813,NA12814,NA12817,NA12818,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12889,NA17966,NA17967,NA17972,NA17977,NA17980,NA17986,NA17990,NA17993,NA17995,NA17996,NA18105,NA18112,NA18120,NA18122,NA18125,NA18131,NA18132,NA18134,NA18135,NA18141,NA18146,NA18148,NA18150,NA18151,NA18152,NA18153,NA18154,NA18158,NA18159,NA18160,NA18166,NA18501,NA18510,NA18511,NA18517,NA18543,NA18545,NA18548,NA18552,NA18563,NA18573,NA18577,NA18582,NA18593,NA18594,NA18597,NA18608,NA18609,NA18612,NA18614,NA18619,NA18626,NA18627,NA18628,NA18630,NA18634,NA18636,NA18645,NA18682,NA18685,NA18704,NA18745,NA18749,NA18852,NA18857,NA18862,NA18871,NA18872,NA18873,NA18875,NA18917,NA18923,NA18946,NA18952,NA18953,NA18959,NA18968,NA18970,NA18981,NA18990,NA18998,NA19010,NA19044,NA19058,NA19065,NA19066,NA19067,NA19072,NA19088,NA19097,NA19107,NA19108,NA19109,NA19118,NA19121,NA19123,NA19127,NA19128,NA19129,NA19130,NA19143,NA19146,NA19154,NA19159,NA19161,NA19174,NA19181,NA19184,NA19185,NA19186,NA19189,NA19191,NA19192,NA19198,NA19204,NA19214,NA19238,NA19239,NA19240,NA19248,NA19249,NA19257,NA19310,NA19315,NA19317,NA19318,NA19324,NA19328,NA19383,NA19384,NA19385,NA19396,NA19399,NA19443,NA19446,NA19451,NA19456,NA19466,NA19467,NA19470,NA19473,NA19474,NA19625,NA19649,NA19650,NA19651,NA19652,NA19653,NA19656,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19669,NA19670,NA19671,NA19675,NA19678,NA19680,NA19681,NA19684,NA19685,NA19686,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19725,NA19726,NA19727,NA19748,NA19749,NA19755,NA19757,NA19759,NA19760,NA19761,NA19762,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19778,NA19779,NA19780,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19834,NA19835,NA19836,NA19900,NA19908,NA19914,NA19917,NA19919,NA19921,NA19982,NA20126,NA20127,NA20128,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20295,NA20301,NA20302,NA20319,NA20322,NA20334,NA20336,NA20337,NA20341,NA20348,NA20356,NA20358,NA20359,NA20360,NA20506,NA20508,NA20509,NA20512,NA20519,NA20520,NA20521,NA20522,NA20525,NA20530,NA20535,NA20538,NA20541,NA20543,NA20544,NA20586,NA20588,NA20589,NA20753,NA20756,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20770,NA20772,NA20773,NA20775,NA20778,NA20785,NA20790,NA20792,NA20796,NA20797,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20806,NA20807,NA20808,NA20809,NA20811,NA20812,NA20826,NA20845,NA20846,NA20849,NA20850,NA20851,NA20854,NA20856,NA20858,NA20862,NA20866,NA20869,NA20870,NA20873,NA20875,NA20877,NA20879,NA20881,NA20883,NA20885,NA20887,NA20889,NA20895,NA20896,NA20897,NA20901,NA20902,NA20903,NA20904,NA20908,NA20909,NA20910,NA20911,NA21088,NA21090,NA21091,NA21094,NA21097,NA21100,NA21107,NA21108,NA21109,NA21112,NA21116,NA21117,NA21119,NA21142,NA21143,NA21144,NA21297,NA21314,NA21320,NA21344,NA21353,NA21356,NA21357,NA21359,NA21363,NA21365,NA21366,NA21367,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21390,NA21402,NA21404,NA21415,NA21424,NA21425,NA21440,NA21442,NA21453,NA21455,NA21457,NA21473,NA21493,NA21494,NA21509,NA21512,NA21517,NA21521,NA21522,NA21523,NA21525,NA21528,NA21573,NA21576,NA21587,NA21597,NA21608,NA21611,NA21615,NA21616,NA21619,NA21620,NA21632,NA21683,NA21689,NA21719,NA21741 nsv442545 9 44667855 44795733 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv831574 9 44671177 44762507 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447707,nssv1447701,nssv1447704,nssv1447703,nssv1447702,nssv1447705,nssv1447710,nssv1447709,nssv1447708 M 95 0 9 "" dgv8215n71 9 44708655 45242135 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893294,nsv893292,nsv893293 M 6533 3 0 FAM27C IS35572,IS40267,MS25769 nsv8461 9 44729295 44731039 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18195 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 nsv8462 9 44746498 44748043 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21057,nssv17695,nssv18519,nssv19148 M 31 3 1 Samples from several populations that are part of the HapMap project. "" NA12155,NA12740,NA18980,NA19132 nsv8463 9 44798067 44805447 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18367,nssv21323,nssv21117,nssv16211,nssv22500 M 31 4 1 Samples from several populations that are part of the HapMap project. "" NA11830,NA12872,NA18972,NA19132,NA19221 nsv8464 9 44809173 44810679 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18549 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12740 esv28013 9 44814786 44848258 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18224,esv20004,esv21022 M 451 2 3 "" NA07045,NA12749,NA18508,NA19108,NA19240 esv3526 9 44815300 44818821 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25967 S 1 0 0 Single Asian sample YH "" YH esv9658 9 44815342 44819515 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32099 S 1 0 0 "" SJK esv2508289 9 44816848 44820519 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285216 S 1 1 0 "" NA18507 nsv512100 9 44817984 44819875 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624657 S 1 0 1 "" 1 esv9596 9 44818194 44819475 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32037 S 1 0 1 "" SJK esv3017 9 44818820 44819672 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25458 S 1 0 0 Single Asian sample YH "" YH dgv8216n71 9 44830049 45050818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893295,nsv893298 M 6533 0 2 FAM27C SP52604,SP56004 nsv893296 9 44834687 44956619 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500992 S 6533 1 0 FAM27C SP50798 nsv893297 9 44834687 44997776 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500764,nssv1500934,nssv1504950,nssv1505444,nssv1504342 M 6533 3 2 FAM27C SP50783,SP50857,SP52432,SP52914,SP53490 nsv893299 9 44844429 45448998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558132 S 6533 0 1 FAM27C MS23123 nsv893300 9 44844429 45533255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589879 S 6533 1 0 FAM27C IS38421 dgv8217n71 9 44844429 45932837 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893302,nsv893301 M 6533 2 0 FAM27A,FAM27C IS39248,SP54284 dgv2350e1 9 44898290 45074439 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19756,essv18413 M 271 0 0 FAM27C NA10835,NA12249 esv21770 9 44898327 44937519 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18597,esv19996,esv15929,esv11486 M 451 4 7 FAM27C NA07045,NA12287,NA12749,NA15510,NA18508,NA18517,NA19108,NA19129,NA19240 nsv8471 9 44914791 44952046 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21147,nssv22560 M 31 2 0 Samples from several populations that are part of the HapMap project. FAM27C NA19132,NA19221 esv1007212 9 44931538 45163595 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586051 S 3 1 0 "" HuRef nsv831576 9 44967017 45024324 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447719,nssv1447714,nssv1447713,nssv1447718,nssv1447716,nssv1447720,nssv1447715,nssv1447721 M 95 0 8 "" nsv8470 9 44983708 44984081 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18363,nssv18225,nssv18366,nssv17252,nssv20323 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18504,NA18537 nsv8468 9 44986965 44989262 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22530,nssv20661 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA19221 nsv8467 9 45006834 45031613 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18333 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 esv24407 9 45042298 45190128 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10462,esv15464,esv17071,esv14514 M 451 7 9 "" NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12776,NA12878,NA18907,NA18909,NA19099,NA19108,NA19190,NA19240 nsv8466 9 45051201 45053812 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19951 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv997437 9 45175978 45190128 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586239 S 3 1 0 "" HuRef nsv442148 9 45240200 45506515 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv2353e1 9 45240200 45904438 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1229,essv8595,essv12353,essv12648,essv10236,essv19184,essv17703,essv2616,essv19542,essv22866,essv22197,essv24476 M 271 0 0 FAM27A NA12044,NA12056,NA12760,NA12864,NA12865,NA12872,NA18500,NA18990,NA18995,NA19138,NA19152,NA19239 dgv2354e1 9 45240200 46106426 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv822,essv8794,essv21302,essv2166,essv8471,essv3017,essv5461,essv1921,essv20299,essv16902,essv6158,essv468,essv10756,essv14096,essv22045,essv14888,essv22127,essv17879,essv7396,essv19600,essv10058,essv23216,essv7764,essv16109,essv14441,essv16802,essv8277,essv8182,essv24797,essv9222,essv11994,essv13798,essv13836,essv16440,essv9874,essv20399,essv14144,essv15544,essv18314,essv3979,essv11021,essv6043,essv23468,essv10468,essv10113,essv1770,essv16928,essv5797,essv21441,essv6841,essv23401,essv8123,essv15066,essv21180,essv19414,essv5907,essv15765,essv11571,essv4638,essv13088,essv9390,essv19268,essv24669,essv13446,essv10669,essv24863,essv17760,essv17317,essv11421,essv281,essv24598,essv11215,essv8380,essv11913,essv7593,essv5128,essv6341,essv18134,essv581,essv7290,essv5724,essv15309,essv9792,essv14972,essv17189,essv15616,essv9722,essv12698,essv1592,essv1470,essv20591,essv3384,essv11160,essv3727,essv14761,essv213,essv17520,essv16699,essv18935,essv13132,essv1214,essv24303,essv1092,essv2624,essv163,essv3102,essv7201,essv14374,essv10948,essv11633,essv10353,essv12521 M 271 0 0 FAM27A NA07000,NA07034,NA07056,NA10830,NA10831,NA10838,NA10846,NA10854,NA10855,NA10856,NA10857,NA10860,NA11829,NA11830,NA11840,NA11992,NA11993,NA12003,NA12005,NA12144,NA12154,NA12155,NA12156,NA12717,NA12762,NA18502,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18522,NA18523,NA18532,NA18542,NA18545,NA18547,NA18550,NA18566,NA18571,NA18577,NA18579,NA18592,NA18593,NA18594,NA18609,NA18623,NA18632,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18858,NA18861,NA18862,NA18863,NA18870,NA18872,NA18912,NA18913,NA18914,NA18942,NA18944,NA18945,NA18947,NA18948,NA18951,NA18952,NA18959,NA18960,NA18964,NA18967,NA18968,NA18969,NA18970,NA18973,NA18978,NA18981,NA18997,NA18998,NA19099,NA19100,NA19102,NA19103,NA19116,NA19128,NA19129,NA19130,NA19131,NA19137,NA19139,NA19140,NA19142,NA19143,NA19144,NA19145,NA19153,NA19154,NA19159,NA19171,NA19173,NA19192,NA19201,NA19204,NA19205,NA19206,NA19207,NA19209,NA19211 nsv831578 9 45240204 45392480 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447726,nssv1447725 M 95 0 2 "" nsv8472 9 45259905 45947227 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19648,nssv18347,nssv22590,nssv18659,nssv17840,nssv22620,nssv20691,nssv17896,nssv21353,nssv17785,nssv18579 M 31 7 4 Samples from several populations that are part of the HapMap project. FAM27A NA12740,NA18552,NA18563,NA18853,NA18860,NA18972,NA18980,NA19144,NA19173,NA19221 esv28585 9 45267857 45699365 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14009,esv13524,esv14742,esv16109,esv18534,esv15612,esv21030 M 451 6 6 FAM27A NA07045,NA11993,NA11995,NA12044,NA12287,NA15510,NA18508,NA18517,NA19108,NA19114,NA19129 dgv8218n71 9 45270306 45504733 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893303,nsv893304 M 6533 0 2 "" IS38235,MS10064 nsv831579 9 45281635 45453537 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447729,nssv1447732,nssv1447731,nssv1447730,nssv1447727 M 95 2 3 "" nsv416246 9 45310058 45310058 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434824 M 24 "" dgv8219n71 9 45338079 45533255 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893306,nsv893305,nsv893307 M 6533 3 0 "" IS35516,MS12206,SP54575 nsv469542 9 45338733 45433238 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649652 M 265 1 5 Samples from several populations that are part of the HapMap project. "" nsv471658 9 45338734 45571307 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549078,nssv549065,nssv549074,nssv549060,nssv549004,nssv549010,nssv549059,nssv549075,nssv549002,nssv549019,nssv549066,nssv548992,nssv549000,nssv549080,nssv549009,nssv549061,nssv549058,nssv548998,nssv548990,nssv549014,nssv548994,nssv548993,nssv549090,nssv549088,nssv549083,nssv549015,nssv548988,nssv548991,nssv549003,nssv549070,nssv549071,nssv549005,nssv549092,nssv549084,nssv549006,nssv548995,nssv549089,nssv549011,nssv549018,nssv549068,nssv548996,nssv549008,nssv549072,nssv549085,nssv549076,nssv548987,nssv548984,nssv549069,nssv549086,nssv549073,nssv548989,nssv549082,nssv549091,nssv549063,nssv549095,nssv549094,nssv548985,nssv549064,nssv549098,nssv549016,nssv548997,nssv549062,nssv549079,nssv549013,nssv549012,nssv549017,nssv549087,nssv549020,nssv549081,nssv549096,nssv549097,nssv548999,nssv549067,nssv548986,nssv549007,nssv549093,nssv549077,nssv548983,nssv549001 M 48 0 43 "" JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10495,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA15724,NA15725,NA15726,NA15727,NA15729,NA15730,NA15731,NA15732,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059,P86GA nsv433402 9 45354561 45513422 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463283 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv831580 9 45375606 45911443 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447734,nssv1447733 M 95 1 1 FAM27A nsv893308 9 45402509 45533255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1521201,nssv1535742 M 6533 2 0 "" MS12439,SP52282 nsv469540 9 45407227 45571307 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649650 M 265 2 0 Samples from several populations that are part of the HapMap project. "" nsv831582 9 45412661 45516530 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447735,nssv1447736,nssv1447737 M 95 3 0 "" dgv8220n71 9 45422326 45623124 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893309,nsv893310 M 6533 2 0 FAM27A MS11497,SP51402 nsv831583 9 45433234 45975582 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447738,nssv1447741,nssv1447742,nssv1447743 M 95 2 2 FAM27A nsv893311 9 45448998 45804023 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531588 S 6533 1 0 FAM27A MS10549 essv24060 9 45454040 45904438 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM27A NA10859 nsv831584 9 45456286 45928315 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447746,nssv1447745,nssv1447744 M 95 1 2 FAM27A essv18712 9 45456856 46009277 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM27A NA12874 nsv831585 9 45500757 46009895 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447747 S 95 0 1 FAM27A nsv438105 9 45502893 45528568 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470100,nssv470101 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA19207 nsv893312 9 45533255 45678649 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563424 S 6533 1 0 FAM27A MS26001 dgv8221n71 9 45533255 45867125 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893316,nsv893313 M 6533 0 2 FAM27A MS13135,SP56952 nsv8495 9 45548670 45561050 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18527 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv831593 9 45551008 45626173 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447781,nssv1447783,nssv1447782,nssv1447786,nssv1447787,nssv1447785 M 95 0 6 FAM27A nsv8494 9 45567512 45568542 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18573 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv893314 9 45573184 45773296 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567898 S 6533 1 0 FAM27A IS31169 nsv893315 9 45578187 45690640 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535642 S 6533 0 1 FAM27A MS12347 esv989841 9 45616993 45672385 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586625 S 3 1 0 FAM27A HuRef dgv8222n71 9 45630065 45904164 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893318,nsv893321,nsv893329,nsv893326,nsv893317,nsv893323,nsv893327,nsv893324 M 6533 0 11 "" IS34599,IS38069,MS12644,MS13131,MS13257,MS15220,MS15340,MS15571,MS16259,MS16268,MS23423 nsv893319 9 45630065 46048621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582631 S 6533 0 1 "" IS36064 dgv8223n71 9 45639743 45808844 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893320,nsv893322 M 6533 0 2 "" MS10445,MS22212 dgv8224n71 9 45663439 45880553 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893335,nsv893325 M 6533 2 10 "" IS30135,IS31904,IS38355,IS39886,IS41919,MS10060,MS10064,MS16898,MS18978,MS22114,SP56758,SP56903 nsv8493 9 45668466 45668839 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18315,nssv18543,nssv18396,nssv20353,nssv17282 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18504,NA18537 dgv8225n71 9 45678649 45880553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893337,nsv893331,nsv893333,nsv893336,nsv893328,nsv893334,nsv893332 M 6533 0 11 "" MS13795,MS16343,MS16347,MS18273,MS20254,MS21857,MS24151,SP50973,SP56004,SP56132,SP58416 nsv893330 9 45690640 45842847 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555808 S 6533 1 0 "" MS21626 nsv893338 9 45705452 45998315 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531351,nssv1508852 M 6533 1 1 "" MS10400,SP54575 esv22234 9 45755561 46023423 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14479,esv11471,esv9861,esv10944,esv10734,esv11247 M 451 15 2 "" NA07045,NA12156,NA12489,NA12828,NA15510,NA18508,NA18517,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225,NA19240 dgv8226n71 9 45757243 45888287 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893341,nsv893339 M 6533 0 3 "" IS35161,MS11084,SP50774 dgv8227n71 9 45757243 45962146 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893340,nsv893344,nsv893342,nsv893345 M 6533 0 6 "" IS34352,IS41908,MS13169,SP50177,SP52893,SP81068 nsv893343 9 45763238 45998315 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533020 S 6533 1 0 "" MS10983 nsv893347 9 45888287 46048621 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544181 S 6533 1 0 "" MS16308 nsv893348 9 45898977 46048621 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591099 S 6533 0 1 "" IS38635 nsv831586 9 45907482 46102263 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447749,nssv1447748 M 95 0 2 "" nsv8473 9 45953726 45954720 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18393 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 dgv8228n71 9 45962146 46077795 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893352,nsv893351,nsv893350 M 6533 3 0 "" IS30506,MS11218,SP53616 nsv893353 9 45969652 46213418 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579538 S 6533 1 0 "" IS35127 dgv36n14 9 45985097 46101384 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433403,nsv433404 M 9 2 0 "" NA18507,NA19240 nsv8474 9 45987765 46023819 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21177,nssv22650,nssv16241,nssv17644,nssv19981,nssv18397 M 31 5 1 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12872,NA19132,NA19221,NA19240 nsv831587 9 46006772 46096928 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447750,nssv1447756,nssv1447757,nssv1447758,nssv1447752,nssv1447755,nssv1447753,nssv1447754,nssv1447759,nssv1447761,nssv1447763,nssv1447760 M 95 0 12 "" esv1008671 9 46007951 46106426 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586698 S 3 1 0 "" HuRef nsv8475 9 46029926 46034245 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18377 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv893355 9 46095050 46300476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568236 S 6533 1 0 "" IS31218 esv996891 9 46156427 46281049 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586293 S 3 1 0 "" HuRef essv18406 9 46156427 46351035 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv831588 9 46162950 46239508 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447769,nssv1447765,nssv1447764,nssv1447768,nssv1447767,nssv1447770,nssv1447766 M 95 0 7 "" nsv433405 9 46169931 46272357 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463286 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv469761 9 46177851 46344473 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649782 M 265 2 0 Samples from several populations that are part of the HapMap project. "" nsv471659 9 46177852 46344473 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv548945,nssv548940,nssv548941,nssv548937,nssv550443,nssv550445,nssv548942,nssv550441,nssv550444,nssv548946,nssv550439,nssv550440,nssv548943,nssv550442,nssv548938,nssv548939,nssv548944 M 48 1 10 "" JK1058,NA10970,NA10976,NA10979,NA11523,NA15724,NA15726,NA15727,NA15732,NA15733,NA16688 nsv469535 9 46188859 46295389 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649644 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv8476 9 46250023 46254053 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18407 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv8477 9 46260454 46296540 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16271,nssv20322,nssv21207,nssv18457,nssv17674,nssv20011,nssv22680 M 31 6 1 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12872,NA18502,NA19132,NA19221,NA19240 esv28583 9 46261321 46351007 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10996,esv16991,esv20333,esv15515,esv18570 M 451 16 1 "" NA07045,NA11993,NA12489,NA12776,NA12828,NA12878,NA15510,NA18508,NA18517,NA18909,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225 esv23745 9 46401081 46484271 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16340 S 451 2 0 "" NA11993,NA19129 esv1001418 9 46521222 46783505 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586321 S 3 1 0 KGFLP1 HuRef esv26894 9 46559545 46655601 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19993,esv11437,esv14487,esv18791,esv18502,esv20161,esv11885 M 451 6 2 KGFLP1 NA11894,NA11995,NA12004,NA12156,NA12287,NA19114,NA19129,NA19147 esv29468 9 46718139 46899578 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15212,esv10400 M 451 2 0 "" NA12878,NA19114 esv28947 9 46949978 47107472 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15398,esv10009,esv19945 M 451 2 2 "" NA18523,NA19108,NA19114,NA19240 nsv831564 9 46980050 47107499 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447677,nssv1447667,nssv1447668,nssv1447676,nssv1447672,nssv1447669,nssv1447670,nssv1447674,nssv1447671,nssv1447678,nssv1447679,nssv1447675 M 95 0 12 "" nsv824938 9 46989072 47002387 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425137 S 31 1 0 "" AK2 nsv428215 9 65207500 65498737 CNV Gain+Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451734,nssv451733 M 62 1 1 FAM74A2,FAM74A4,FAM75A5,FAM75A7 NA19113,NA19189 esv24325 9 65207526 65658150 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11533,esv20889,esv10669,esv15558,esv12683,esv14775 M 451 16 9 FAM74A2,FAM74A4,FAM75A5,FAM75A7 NA11894,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12776,NA12878,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19190,NA19225,NA19240 dgv2326e1 9 65347457 65486046 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24281,essv693,essv19927,essv17070,essv1474,essv17552,essv22450,essv14552 M 271 0 0 "" NA10856,NA12761,NA12762,NA12813,NA18944,NA18975,NA19172,NA19202 nsv831556 9 65356235 65486046 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447648 S 95 0 1 "" dgv2325e1 9 65397958 65486046 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17753,essv16754,essv10401,essv10327 M 271 0 0 "" NA10831,NA18506,NA18872,NA19222 esv996319 9 65412229 65597874 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586226 S 3 1 0 "" HuRef nsv8455 9 65415685 65447041 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19231 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 esv993767 9 65609331 65658180 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586403 S 3 1 0 "" HuRef esv987820 9 65708181 65708825 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586619 S 3 1 0 "" HuRef esv27761 9 65708247 65927481 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9976,esv16198,esv15466,esv19879 M 451 5 0 "" NA12878,NA18907,NA19114,NA19190,NA19225 esv2545282 9 66194123 66214218 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5182610 S 1 0 0 "" NA18507 dgv2363e1 9 66194477 66354015 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2855,essv4251,essv20778,essv12348 M 271 0 0 LOC442421,MGC21881 NA12146,NA18603,NA18953,NA19138 nsv428216 9 66194477 66354015 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451735,nssv451736 M 62 0 2 LOC442421,MGC21881 HGDP00476,NA19113 essv355 9 66194477 66562991 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC442421,MGC21881 NA18971 nsv438106 9 66196490 66221498 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470103,nssv470102 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA19207 dgv133n16 9 66196555 67903533 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436715,nsv435990 M 2 0 0 ANKRD20A1,ANKRD20A3,AQP7P1,FAM27B,LOC100133920,LOC442421,MGC21881 NA15510,NA18505 nsv6544 9 66199895 66250915 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv805,nssv6274 M 9 0 2 LOC442421 NA12156,NA19240 dgv134n16 9 66201300 66212693 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436684,nsv435965 M 2 0 0 "" NA15510,NA18505 esv29062 9 66201440 66240789 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17668,esv20983 M 451 3 0 LOC442421 NA11995,NA12006,NA19129 esv2581585 9 66203079 66214218 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211660 S 1 0 0 "" NA18507 esv2489937 9 66208975 66214218 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5249900 S 1 0 0 "" NA18507 nsv499797 9 66209729 66218440 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585572 S 9 0 0 "" nsv7425 9 66209870 66258528 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10664,nssv6275 M 9 0 0 LOC442421 NA12156,NA18956 nsv435991 9 66214144 66218590 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466525 S 2 0 0 "" NA15510 nsv893356 9 66244166 67656950 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532059 S 6533 1 0 ANKRD20A1,ANKRD20A3,AQP7P1,FAM27B,LOC100133920,MGC21881 MS10699 dgv8229n71 9 66256682 66806479 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893357,nsv893362,nsv893358,nsv893359 M 6533 4 0 LOC100133920,MGC21881 MS12202,MS23330,SP56505,SP56947 dgv8230n71 9 66261150 67023910 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893360,nsv893361,nsv893370 M 6533 3 0 AQP7P1,LOC100133920,MGC21881 MS12206,MS12331,MS17909 nsv7426 9 66268313 66310957 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv806 S 9 0 0 MGC21881 NA19240 nsv821663 9 66317199 66318669 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421236 S 31 0 1 "" esv26606 9 66329081 66353976 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18151 S 451 0 2 "" NA07037,NA19225 dgv8231n71 9 66345398 66834318 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893369,nsv893367,nsv893364,nsv893363,nsv893366,nsv893365,nsv893368 M 6533 18 0 LOC100133920 IS30493,IS30771,IS33162,IS38515,MS10686,MS11181,MS18267,MS18290,MS18414,MS20355,MS22787,MS24265,MS24719,SP50580,SP51218,SP56108,SP56248,SP56816 nsv436622 9 66411466 69143950 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466526 S 2 0 1 Samples from several populations that are part of the HapMap project. ANKRD20A1,ANKRD20A3,ANKRD20A4,AQP7P1,CBWD6,FAM27B,FOXD4L6,LOC100132352,LOC100133920,LOC440896,LOC642236,PGM5P2 NA18505 nsv893371 9 66449111 66682391 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511984,nssv1501933 M 6533 2 0 "" SP51007,SP55219 dgv8232n71 9 66449111 66824235 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893378,nsv893377,nsv893373,nsv893380,nsv893382,nsv893372,nsv893384,nsv893383 M 6533 11 0 LOC100133920 MS16918,SP53791,SP55670,SP56152,SP56196,SP56549,SP56766,SP56789,SP57489,SP80936,SP81475 nsv893374 9 66461206 66689673 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507788 S 6533 0 1 "" SP54636 dgv8233n71 9 66461206 66786349 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893376,nsv893375 M 6533 2 2 LOC100133920 SP51167,SP54225,SP54402,SP56144 dgv8234n71 9 66464915 66786349 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893379,nsv893381 M 6533 0 3 LOC100133920 SP51145,SP55747,SP57197 esv21863 9 66508263 66579277 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21349,esv20487 M 451 3 1 "" NA06985,NA11894,NA15510,NA18523 nsv512101 9 66508687 66512833 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624658 S 1 0 1 "" 1 esv9106 9 66540654 66573608 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31547 S 1 0 1 "" SJK esv2638847 9 66562002 66577031 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265513 S 1 1 0 "" NA18507 esv6096 9 66572948 66574876 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28537 S 1 0 1 "" SJK esv2436366 9 66577031 66601716 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261574 S 1 1 0 "" NA18507 esv1000243 9 66578856 68283201 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565376 S 3 0 1 ANKRD20A1,ANKRD20A3,AQP7P1,FAM27B,LOC100132352,LOC100133920,LOC642236 HuRef nsv893385 9 66582874 66991363 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542906 S 6533 1 0 AQP7P1,LOC100133920 MS15940 esv1295484 9 66587409 66587409 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179772 S 2 1 0 "" HuRef esv7498 9 66588128 66589185 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29939 S 1 0 1 "" SJK esv2624289 9 66591102 66595284 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267685 S 1 0 1 "" NA18507 esv7587 9 66591869 66594110 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30028 S 1 0 1 "" SJK esv3521 9 66598465 66602475 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25962 S 1 0 0 Single Asian sample YH "" YH esv7961 9 66598467 66601987 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30402 S 1 0 1 "" SJK dgv2373e1 9 66653164 67056116 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv329,essv4567 M 271 0 0 AQP7P1,LOC100133920 NA18524,NA18971 esv27382 9 66665776 66742536 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14446,esv18630,esv11051 M 451 4 1 "" NA11993,NA12239,NA12414,NA15510,NA19240 nsv433406 9 66666918 66834318 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463287 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC100133920 NA19240 nsv893386 9 66689673 67656950 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592664 S 6533 1 0 ANKRD20A1,ANKRD20A3,AQP7P1,FAM27B,LOC100133920 IS39243 nsv8497 9 66709719 67011845 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18617,nssv18603,nssv18557,nssv18587 M 31 1 1 Samples from several populations that are part of the HapMap project. AQP7P1,LOC100133920 NA07048,NA18563 nsv433407 9 66729403 66842182 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463288 S 9 1 0 Samples from several populations that are part of the HapMap project. LOC100133920 NA18507 dgv8235n71 9 66749901 67023910 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893388,nsv893387 M 6533 2 0 AQP7P1,LOC100133920 MS25112,MS25950 dgv93n68 9 66830481 67056050 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831594,nsv831595 M 95 0 4 AQP7P1 nsv893389 9 66912684 67055399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500793 S 6533 0 1 AQP7P1 SP50973 dgv94n68 9 66927637 67056050 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831597,nsv831596 M 95 0 2 AQP7P1 nsv436618 9 66987864 66996435 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466527 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv27039 9 67007950 67056088 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11315 S 451 3 0 "" NA12239,NA12414,NA19240 essv996 9 67023497 67813967 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD20A1,ANKRD20A3,FAM27B NA18964 esv1000245 9 67052727 67056116 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586259 S 3 1 0 "" HuRef esv1008654 9 67106117 67147081 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586299 S 3 1 0 "" HuRef esv28687 9 67106152 67384266 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12166,esv12267,esv15536,esv13938,esv16102,esv15685,esv13129,esv11037 M 451 8 17 FAM27B NA06985,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12489,NA12749,NA12776,NA12878,NA15510,NA18508,NA18517,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19190,NA19240 nsv831598 9 67137025 67324056 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447794 S 95 0 1 "" esv992391 9 67158166 67384016 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586764 S 3 1 0 FAM27B HuRef dgv2374e1 9 67192943 67288070 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14691,essv17482 M 271 0 0 "" NA12762,NA19159 dgv2375e1 9 67192943 67480316 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10545,essv6269,essv20954,essv18398 M 271 0 0 FAM27B NA12249,NA12801,NA18636,NA19240 nsv428217 9 67192943 68110986 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451751,nssv451745,nssv451747,nssv451738,nssv451748,nssv451746,nssv451749,nssv451744,nssv451741,nssv451740,nssv451750,nssv451743,nssv451739 M 62 13 0 ANKRD20A1,ANKRD20A3,FAM27B,LOC642236 HGDP00449,HGDP00450,HGDP00462,HGDP00463,HGDP00471,HGDP00473,HGDP00984,HGDP01088,HGDP01089,HGDP01093,NA18498,NA19189,NA19257 dgv2376e1 9 67192943 68487379 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12826,essv4876,essv6761,essv5596,essv1401,essv257,essv4074,essv2038 M 271 0 0 ANKRD20A1,ANKRD20A3,FAM27B,LOC100132352,LOC440896,LOC642236,PGM5P2 NA18529,NA18561,NA18562,NA18635,NA18948,NA18949,NA19007,NA19120 nsv8500 9 67261915 67266543 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18375 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18537 essv22590 9 67286071 67480316 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM27B NA07348 dgv2377e1 9 67286071 67862331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1744,essv1477,essv21312,essv20654 M 271 0 0 ANKRD20A1,ANKRD20A3,FAM27B NA12878,NA12892,NA18944,NA18997 nsv8501 9 67330497 67330870 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18405,nssv20383,nssv18663,nssv17312,nssv18456 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10863,NA18504,NA18537 nsv8503 9 67362198 67399452 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22826 S 31 1 0 Samples from several populations that are part of the HapMap project. FAM27B NA19221 nsv831599 9 67373479 67411627 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447799,nssv1447796,nssv1447798,nssv1447797 M 95 0 4 FAM27B nsv8504 9 67383257 67441326 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18647,nssv18693,nssv17484 M 31 2 1 Samples from several populations that are part of the HapMap project. FAM27B NA07048,NA18563,NA18975 esv23317 9 67387284 67442406 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12293 S 451 1 0 "" NA18907 nsv893390 9 67426788 67563948 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499225,nssv1513954 M 6533 0 2 ANKRD20A1,ANKRD20A3 SP50077,SP55878 nsv893391 9 67426788 67656950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508256 S 6533 0 1 ANKRD20A1,ANKRD20A3 SP54579 nsv8505 9 67439982 67860127 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21224,nssv22884,nssv18719,nssv18677,nssv20901,nssv17960,nssv20931,nssv22855,nssv18669,nssv18228,nssv21194,nssv19828,nssv18749,nssv18486 M 31 6 4 Samples from several populations that are part of the HapMap project. ANKRD20A1,ANKRD20A3 NA10863,NA12740,NA18517,NA18563,NA18564,NA18853,NA18860,NA19144,NA19173,NA19221 dgv8236n71 9 67534395 68002352 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893393,nsv893392 M 6533 0 3 ANKRD20A1,ANKRD20A3,LOC642236 SP52708,SP53687,SP57270 esv24220 9 67574781 67577762 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18802 S 451 2 0 "" NA12776,NA18517 dgv2378e1 9 67627819 67862331 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14382,essv18128,essv8425,essv89,essv12479,essv11997,essv11829,essv5127,essv18428,essv14864,essv3859,essv5911,essv10752,essv21254,essv1221,essv10116,essv5795,essv14474,essv6142,essv22096,essv20195,essv12573,essv22842,essv5172,essv3080,essv13138,essv7163,essv7427,essv19627,essv15725,essv9027,essv13754,essv12289,essv11962,essv23514,essv8636,essv4612,essv17553,essv11290,essv24705,essv24313,essv10244,essv23178,essv15590,essv21426,essv9928,essv16717,essv13418,essv23426,essv13926,essv16454,essv10660,essv17310,essv11560,essv11448,essv24586,essv8359,essv22126,essv11127,essv5504,essv19457,essv14132,essv20364,essv8730,essv9754,essv2240,essv14997,essv17137,essv17730,essv7280,essv10934,essv19180,essv8832,essv14775,essv6018,essv12647,essv429,essv6827,essv20612,essv23623,essv14193,essv10064,essv9209,essv24390,essv4684,essv10263,essv24475 M 271 0 0 "" NA07034,NA07056,NA10830,NA10854,NA10855,NA10856,NA10857,NA11829,NA11831,NA11832,NA11840,NA11992,NA11993,NA12004,NA12006,NA12056,NA12154,NA12155,NA12156,NA12707,NA12717,NA12762,NA12865,NA12872,NA18500,NA18502,NA18506,NA18507,NA18508,NA18516,NA18517,NA18521,NA18522,NA18523,NA18532,NA18547,NA18550,NA18566,NA18571,NA18577,NA18579,NA18592,NA18594,NA18611,NA18622,NA18623,NA18632,NA18854,NA18855,NA18856,NA18857,NA18858,NA18861,NA18863,NA18870,NA18952,NA18966,NA18969,NA18991,NA18994,NA18995,NA19092,NA19098,NA19099,NA19102,NA19128,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19145,NA19152,NA19153,NA19159,NA19171,NA19173,NA19192,NA19201,NA19204,NA19207,NA19209,NA19211,NA19239 dgv2379e1 9 67627819 68228766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9324,essv9662 M 271 0 0 LOC100132352,LOC642236 NA18853,NA18913 dgv2380e1 9 67627819 68487379 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv813,essv663,essv1636,essv17832,essv15650,essv307,essv20295,essv18091,essv572,essv16888,essv7784,essv16100,essv8303,essv7530,essv10989,essv161,essv8216,essv13061,essv15152,essv24780,essv7340,essv16930,essv16810,essv11648,essv24850,essv19245,essv15318,essv18261,essv21173,essv5709,essv12746,essv17960,essv3717,essv1165,essv18962,essv16262,essv1951,essv2200,essv3782,essv4002,essv1109,essv2659 M 271 0 0 LOC100132352,LOC440896,LOC642236,PGM5P2 NA07000,NA10831,NA10838,NA10846,NA10860,NA11830,NA12003,NA12005,NA12144,NA12145,NA18542,NA18545,NA18570,NA18593,NA18852,NA18862,NA18872,NA18912,NA18914,NA18942,NA18947,NA18951,NA18959,NA18960,NA18961,NA18964,NA18967,NA18968,NA18970,NA18973,NA18975,NA18978,NA18998,NA19100,NA19103,NA19116,NA19129,NA19143,NA19144,NA19154,NA19161,NA19205 dgv2381e1 9 67627819 69709436 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6955,essv3338 M 271 0 0 ANKRD20A4,CBWD3,CBWD5,CBWD6,FOXD4L2,FOXD4L4,FOXD4L5,FOXD4L6,LOC100132352,LOC100133920,LOC440896,LOC642236,PGM5P2 NA18582,NA18945 dgv12n29 9 67627822 67803880 CNV Complex Locke et al 2006 16826518 BAC_aCGH nsv469554,nsv469763 M 265 3 6 "" nsv471661 9 67627823 67862331 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549165,nssv550448,nssv550551,nssv548926,nssv550473,nssv548903,nssv550482,nssv550479,nssv548915,nssv548908,nssv550478,nssv550449,nssv549181,nssv550454,nssv550546,nssv550552,nssv549189,nssv548910,nssv550455,nssv549171,nssv550543,nssv550554,nssv549180,nssv549175,nssv549162,nssv550550,nssv548918,nssv549197,nssv548906,nssv550460,nssv548905,nssv550466,nssv550452,nssv550468,nssv550458,nssv548931,nssv549166,nssv550549,nssv549177,nssv549198,nssv549199,nssv550461,nssv549161,nssv550453,nssv548928,nssv550547,nssv549168,nssv548901,nssv548925,nssv550542,nssv549186,nssv548909,nssv550540,nssv549174,nssv549195,nssv549191,nssv548917,nssv549172,nssv550447,nssv550548,nssv548916,nssv548923,nssv548919,nssv549194,nssv548927,nssv550537,nssv550477,nssv549188,nssv550471,nssv550451,nssv548930,nssv550474,nssv550446,nssv549173,nssv549193,nssv550464,nssv548935,nssv549176,nssv549182,nssv548911,nssv550553,nssv548922,nssv550536,nssv548902,nssv548932,nssv550555,nssv549192,nssv550457,nssv550462,nssv550470,nssv550541,nssv550545,nssv549163,nssv549187,nssv550456,nssv549185,nssv548913,nssv550539,nssv550544,nssv549179,nssv548936,nssv548907,nssv550459,nssv548912,nssv549178,nssv548921,nssv550469,nssv549190,nssv549164,nssv548924,nssv549170,nssv550463,nssv550475,nssv548933,nssv548920,nssv550538,nssv548904,nssv549167,nssv549196,nssv550472,nssv548914,nssv548934,nssv550465,nssv550450,nssv549169,nssv549184,nssv550535,nssv549200,nssv549183,nssv548929,nssv550480,nssv550467,nssv550476,nssv548900,nssv550481 M 48 0 44 "" JK1051,JK1058,JK1061,JK1688,JK776,NA10469,NA10470,NA10471,NA10472,NA10473,NA10492,NA10493,NA10494,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA11776,NA15724,NA15725,NA15727,NA15728,NA15729,NA15730,NA15731,NA15732,NA15733,NA16689,NA17014,NA17015,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059,P86GA esv25366 9 67627850 68003967 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12375,esv20620,esv16943,esv14201,esv10977,esv11719,esv16957 M 451 11 1 LOC642236 NA11894,NA11993,NA11995,NA12287,NA12414,NA12776,NA15510,NA18517,NA18523,NA18909,NA19129,NA19240 nsv831600 9 67631599 67778882 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447802,nssv1447801,nssv1447803,nssv1447800 M 95 2 2 "" nsv893394 9 67660241 68212622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592665 S 6533 1 0 LOC100132352,LOC642236 IS39243 nsv442548 9 67675871 67678367 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv469784 9 67682522 67862331 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649805 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv831601 9 67685993 67835956 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447805,nssv1447804 M 95 0 2 "" essv10454 9 67698765 67862331 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18515 nsv831602 9 67698822 67862276 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447808,nssv1447807 M 95 1 1 "" nsv469533 9 67730813 67832548 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649642 M 265 0 0 Samples from several populations that are part of the HapMap project. "" nsv893395 9 67743420 68002352 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501278,nssv1516748,nssv1517352 M 6533 2 1 LOC642236 SP50857,SP56926,SP57266 dgv8237n71 9 67743420 68059090 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893397,nsv893396 M 6533 2 0 LOC642236 SP56816,SP56927 esv1607603 9 67780580 67780580 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3686527 S 2 1 0 "" HuRef esv2484599 9 67887863 67902094 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5214829 S 1 1 0 "" NA18507 esv2446424 9 67902094 67923631 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5274567 S 1 1 0 LOC642236 NA18507 esv269052 9 67904953 67905038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514527,essv2516636,essv2519323,essv2517470,essv2518702,essv2514839,essv2518594,essv2515121,essv2516513,essv2518142,essv2516130,essv2517701,essv2515836,essv2519151,essv2514007,essv2518288,essv2519488 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11881,NA11894,NA11918,NA12045,NA12234,NA12287,NA12812,NA12814,NA12872,NA12873,NA12878,NA18969,NA19141,NA19143,NA19240 esv272413 9 67904953 67905038 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581321,essv2581148 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 esv2642576 9 67908466 67908976 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230399 S 1 1 0 "" NA18507 esv6408 9 67908540 67908617 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28849 S 1 1 0 "" SJK esv2646165 9 67908627 67908755 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206463 S 1 0 1 "" NA18507 esv273177 9 67910655 67911371 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581014,essv2579096,essv2579647 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv5560 9 67911365 67913922 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28001 S 1 0 0 "" SJK nsv436682 9 67911435 67914787 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466529 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2469811 9 67912031 67913741 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177712 S 1 0 1 "" NA18507 esv9384 9 67912572 67913647 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31825 S 1 0 1 "" SJK esv988581 9 67914262 67914566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578955 S 3 0 1 "" HuRef esv1006942 9 67914448 67914600 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585092 S 3 0 1 "" HuRef esv994004 9 67919286 67919905 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567590 S 3 0 1 LOC642236 HuRef esv9712 9 67921911 67921994 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32153 S 1 1 0 LOC642236 SJK esv268645 9 67923847 67924186 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514596,essv2516664,essv2517429,essv2517054,essv2514158,essv2514821,essv2515472,essv2518472,essv2515085,essv2518034,essv2517269,essv2513973,essv2519445 M 157 13 0 Samples from several populations that are part of the HapMap project. LOC642236 NA07346,NA11840,NA11881,NA11918,NA11931,NA12043,NA12234,NA12249,NA12287,NA12812,NA12872,NA18970,NA19143 dgv135n16 9 67923848 70025523 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436606,nsv435880 M 2 0 2 ANKRD20A4,CBWD3,CBWD5,CBWD6,FOXD4L2,FOXD4L4,FOXD4L5,FOXD4L6,LOC100132352,LOC100133920,LOC440896,LOC642236,PGM5P2 NA15510,NA18505 esv991773 9 67923868 67923868 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585818 S 3 1 0 LOC642236 HuRef dgv136n16 9 68001393 68291711 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv435966,nsv436683 M 2 0 0 LOC100132352 NA15510,NA18505 essv19908 9 68054002 68487379 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100132352,LOC440896,PGM5P2 NA12813 esv22479 9 68054080 68142779 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16413,esv13256 M 451 7 0 LOC100132352 NA11894,NA12287,NA12414,NA15510,NA18909,NA19129,NA19240 nsv469532 9 68072564 68164986 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649641 M 265 0 3 Samples from several populations that are part of the HapMap project. LOC100132352 nsv442549 9 68073667 68115167 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv469517 9 68081035 68216390 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649703 M 265 2 0 Samples from several populations that are part of the HapMap project. LOC100132352 nsv436601 9 68123588 68362219 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466534 S 2 0 1 Samples from several populations that are part of the HapMap project. LOC100132352 NA18505 nsv515148 9 68143432 68227264 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627083 S 1414 0 0 "" nsv442550 9 68143441 68227664 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8507 9 68143554 68177599 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18707 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 esv33449 9 68173261 70091682 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93889,essv101336,essv94575,essv100146 M 51 0 4 ANKRD20A4,CBWD3,CBWD5,CBWD6,FOXD4L2,FOXD4L4,FOXD4L5,FOXD4L6,LOC100133920,LOC440896,PGM5P2 21634,21805,21932,22286 nsv831606 9 68221301 68447264 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447811 S 95 1 0 PGM5P2 essv24050 9 68278767 68487379 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC440896,PGM5P2 NA10859 essv17250 9 68278767 68920616 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. ANKRD20A4,CBWD6,FOXD4L6,LOC440896,PGM5P2 NA18503 esv22155 9 68278801 68384276 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12479,esv15220 M 451 8 0 PGM5P2 NA11894,NA12239,NA12287,NA15510,NA18907,NA18909,NA19129,NA19240 esv2486755 9 68286227 68287984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207429 S 1 0 1 "" NA18507 esv9201 9 68286256 68287356 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31642 S 1 0 1 "" SJK esv2496765 9 68286565 68291958 CNV Gain McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343100 S 1 1 0 "" NA18507 esv5976 9 68287367 68287791 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28417 S 1 0 1 "" SJK esv9461 9 68288985 68291169 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31902 S 1 0 1 "" SJK nsv6546 9 68319088 68354509 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3721 S 9 1 0 "" NA12878 nsv469684 9 68334264 68487379 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649615 M 265 1 1 Samples from several populations that are part of the HapMap project. LOC440896,PGM5P2 nsv8509 9 68383952 68420995 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18737,nssv16660 M 31 1 1 Samples from several populations that are part of the HapMap project. PGM5P2 NA12802,NA18563 nsv8510 9 68436992 68438360 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18789,nssv17342,nssv18258,nssv21254 M 31 4 0 Samples from several populations that are part of the HapMap project. PGM5P2 NA07029,NA12740,NA18517,NA18564 nsv8511 9 68477636 68482773 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17764 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv893398 9 68644857 68992413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499508 S 6533 0 1 ANKRD20A4,LOC100133920 SP50077 dgv2382e1 9 68733017 69156714 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv405,essv19994,essv4271,essv6901 M 271 0 0 LOC100133920 NA07048,NA18603,NA18605,NA18971 essv2899 9 68733017 70231919 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CBWD3,CBWD5,FOXD4L2,FOXD4L3,FOXD4L4,FOXD4L5,LOC100133920,LOC572558,PGM5 NA18953 nsv8512 9 68742684 68765996 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18136,nssv21533 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18552,NA18972 esv25866 9 68742977 68754967 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11556 S 451 0 1 "" NA12239 nsv469728 9 68765945 68951947 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649749 M 265 0 1 Samples from several populations that are part of the HapMap project. LOC100133920 nsv8514 9 68767036 68922383 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18797,nssv18723 M 31 1 1 Samples from several populations that are part of the HapMap project. "" NA07048,NA18563 nsv831607 9 68778869 68975970 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447812 S 95 1 0 LOC100133920 nsv469823 9 68779113 69000437 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649844 M 265 2 0 Samples from several populations that are part of the HapMap project. LOC100133920 nsv442551 9 68795766 68812645 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" essv10838 9 68856636 69038349 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. LOC100133920 NA18871 nsv442552 9 68890045 68905448 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv469514 9 68906144 69047050 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649670 M 265 2 0 Samples from several populations that are part of the HapMap project. LOC100133920 nsv8515 9 68941858 68963086 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18827 S 31 1 0 Samples from several populations that are part of the HapMap project. LOC100133920 NA18563 nsv508549 9 68965437 69597408 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618854 S 4 0 1 FOXD4L5 NA10860 esv29291 9 68999040 69034407 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18478 S 451 1 0 "" NA19240 nsv8516 9 69034038 69071995 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16690 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 nsv442553 9 69114786 69131209 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv442546 9 69168903 69213467 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv24562 9 69237371 69300139 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18970 S 451 2 0 "" NA12004,NA12878 nsv469665 9 69350407 69709436 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649594 M 265 0 0 Samples from several populations that are part of the HapMap project. CBWD3,CBWD5,FOXD4L2,FOXD4L4,FOXD4L5 dgv2383e1 9 69357809 70343347 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20002,essv4299 M 271 0 0 C9orf71,CBWD3,CBWD5,FOXD4L2,FOXD4L3,FOXD4L4,FOXD4L5,LOC572558,PGM5 NA07048,NA18603 esv25747 9 69560769 69601508 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12000 S 451 1 0 "" NA19240 nsv8517 9 69601139 69638394 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv22913,nssv16720 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12802,NA19221 nsv471467 9 69666445 69669551 CNV Duplication Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548363,nssv548362,nssv548364 M 3 FOXD4L2,FOXD4L4 nsv8518 9 69667028 70105322 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18857,nssv22971,nssv22942 M 31 1 1 Samples from several populations that are part of the HapMap project. CBWD3,CBWD5,FOXD4L2,FOXD4L4 NA18563,NA19221 dgv8238n71 9 69742724 70223656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893399,nsv893400 M 6533 3 0 CBWD3,FOXD4L3,LOC572558,PGM5 IS31218,MS10548,MS25250 esv29517 9 69796385 69975213 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19363,esv11957,esv10157,esv20383,esv13077 M 451 7 2 "" NA11995,NA12414,NA12776,NA12878,NA18517,NA18523,NA19099,NA19129,NA19225 esv1005872 9 69947744 69975288 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586554 S 3 1 0 "" HuRef dgv8239n71 9 69960200 70151170 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893401,nsv893402 M 6533 2 0 CBWD3,FOXD4L3 SP52082,SP52122 esv992234 9 70025289 70058857 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586541 S 3 1 0 CBWD3 HuRef dgv2384e1 9 70025289 70231919 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1819,essv15274,essv23051 M 271 0 0 CBWD3,FOXD4L3,LOC572558,PGM5 NA12812,NA18976,NA19094 dgv2385e1 9 70025289 70343347 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1013,essv12248,essv3406,essv352 M 271 0 0 C9orf71,CBWD3,FOXD4L3,LOC572558,PGM5 NA18945,NA18971,NA19005,NA19101 esv21815 9 70025314 70027684 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20754 S 451 1 0 "" NA12878 nsv428218 9 70030882 70231919 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451756 S 62 0 1 CBWD3,FOXD4L3,LOC572558,PGM5 NA19189 nsv6547 9 70037261 70071693 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2810 S 9 1 0 CBWD3 NA18555 nsv831608 9 70054845 70084302 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447813 S 95 0 1 CBWD3 dgv8240n71 9 70076557 70223656 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893405,nsv893403 M 6533 3 0 CBWD3,FOXD4L3,LOC572558,PGM5 SP50622,SP56047,SP81556 nsv893404 9 70076603 70133445 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516314 S 6533 1 0 CBWD3,FOXD4L3 SP56789 nsv831609 9 70097812 70234204 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447814,nssv1447816,nssv1447815 M 95 3 0 CBWD3,FOXD4L3,LOC572558,PGM5 nsv8519 9 70160844 70162367 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18288,nssv21284,nssv18819,nssv17372,nssv20443,nssv17546 M 31 6 0 Samples from several populations that are part of the HapMap project. LOC572558,PGM5 NA07029,NA12740,NA18504,NA18517,NA18564,NA19007 nsv8520 9 70184144 70203597 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18887 S 31 1 0 Samples from several populations that are part of the HapMap project. PGM5 NA18563 nsv8521 9 70232727 70319672 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20961 S 31 0 1 Samples from several populations that are part of the HapMap project. PGM5 NA18860 dgv8241n71 9 70233709 70401020 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893406,nsv893407,nsv893410,nsv893409,nsv893408 M 6533 6 0 C9orf71,PGM5 IS34356,IS37393,IS40197,IS40662,IS40676,MS24245 dgv8242n71 9 70287662 70389365 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893413,nsv893411,nsv893412 M 6533 3 0 C9orf71,PGM5 IS35676,IS41937,MS17164 nsv893414 9 70329198 70510552 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586986 S 6533 1 0 C9orf71,PGM5,PIP5K1B IS37986 nsv415834 9 70388454 70388530 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434412 M 24 "" esv2422258 9 70424665 70853160 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161274 S 181 1 0 FAM122A,FXN,PIP5K1B,PRKACG ND05155 esv259862 9 70480874 70526025 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394431 S 144 0 0 Samples from several populations that are part of the HapMap project. PIP5K1B NA18943 dgv2386e1 9 70480927 70543563 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3687,esv953 M 271 0 0 PIP5K1B NA18943 nsv893415 9 70537808 70554171 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501759,nssv1513736 M 6533 2 0 PIP5K1B SP50855,SP55835 nsv6548 9 70619347 70660737 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8608 S 9 0 1 PIP5K1B NA12156 nsv466393 9 70643263 70894647 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541945 S 1557 1 0 FXN,PIP5K1B,PRKACG NINDS_214 nsv466397 9 70764577 71032843 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541947 S 1557 1 0 FXN,PIP5K1B,PRKACG,TJP2 1798860277_A nsv893416 9 70787660 71078421 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586987 S 6533 1 0 FXN,PIP5K1B,PRKACG,TJP2 IS37986 dgv8243n71 9 70811507 70823587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893418,nsv893417 M 6533 0 3 PIP5K1B,PRKACG SP54043,SP54577,SP54956 dgv8244n71 9 70816328 70821553 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893419,nsv893421,nsv893420 M 6533 0 3 PRKACG SP54225,SP54591,SP54725 dgv8245n71 9 70816328 70823587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893422,nsv893424 M 6533 0 4 PRKACG SP54593,SP54935,SP55219,SP55265 dgv8246n71 9 70816328 70832319 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893425,nsv893423 M 6533 0 3 PRKACG SP54750,SP54967,SP55019 nsv893426 9 70849100 70909438 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584315 S 6533 1 0 FXN IS36973 dgv45e194 9 70854977 70855598 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv1952643,esv2369637 M 1 0 1 FXN NA18507 esv3093 9 70855002 70855441 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25534 S 1 0 1 Single Asian sample YH FXN YH esv1673718 9 70855159 70855393 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4318595 S 2 0 1 FXN HuRef esv6324 9 70855162 70855373 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28765 S 1 0 1 FXN SJK nsv508550 9 70868986 70999253 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620025,nssv622610,nssv618855 M 4 0 3 FXN,TJP2 NA10860,NA15510,NA18994 nsv824939 9 70880348 70881088 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425139 S 31 0 1 FXN AK2 nsv6549 9 70891213 70898576 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6277 S 9 0 1 FXN NA12156 esv2624430 9 70892320 70893810 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376111 S 1 0 1 FXN NA18507 nsv6550 9 70903964 70949868 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3723,nssv5159,nssv10669,nssv807,nssv1786,nssv6279 M 9 0 6 FXN,TJP2 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv511419 9 70923423 70936073 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626028 S 1 0 1 TJP2 1 dgv137n16 9 70925988 70933483 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436603,nsv435879 M 2 0 2 TJP2 NA15510,NA18505 esv2469253 9 70927328 70933798 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340207 S 1 0 1 TJP2 NA18507 esv2388683 9 70927762 70933354 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4879555 S 1 0 1 TJP2 NA18507 nsv512102 9 70927822 70933202 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624659 S 1 0 1 TJP2 1 esv3271 9 70927822 70933240 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25712 S 1 0 1 Single Asian sample YH TJP2 YH esv1005385 9 70927844 70933295 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563874 S 3 0 1 TJP2 HuRef esv1026000 9 70927942 70933176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3935963 S 2 0 1 TJP2 HuRef esv22861 9 70927946 70933190 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12285 S 451 21 0 TJP2 NA07037,NA07045,NA11931,NA12004,NA12006,NA12044,NA12414,NA12489,NA12828,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA19099,NA19108,NA19114,NA19147,NA19225,NA19240 nsv821495 9 70927946 70933190 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420810 S 1 0 1 TJP2 NA10851 nsv824940 9 70927946 70933190 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421877,nssv1429970,nssv1426852,nssv1439817,nssv1421974,nssv1425924,nssv1438291,nssv1436816,nssv1428175,nssv1423577,nssv1429224,nssv1427829,nssv1432226,nssv1422754,nssv1427647,nssv1440488,nssv1434555 M 31 0 17 TJP2 AK12,AK14,AK20,AK4,AK6,AK8,NA18537,NA18542,NA18547,NA18552,NA18564,NA18570,NA18947,NA18951,NA18968,NA18997,NA18999 esv8226 9 70927950 70933176 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30667 S 1 0 1 TJP2 SJK dgv1221n67 9 70928111 70931605 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824941,nsv824943 M 31 0 12 TJP2 AK10,AK16,AK18,NA18526,NA18566,NA18582,NA18592,NA18942,NA18949,NA18969,NA18972,NA18973 nsv515149 9 70928256 70931464 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628019 S 1414 0 1 TJP2 nsv893427 9 70952586 71048337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584316 S 6533 1 0 TJP2 IS36973 esv2559913 9 70967508 70969159 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5387348 S 1 0 1 TJP2 NA18507 esv1984160 9 70967571 70968265 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654989 S 1 0 1 TJP2 NA18507 esv4666 9 70967698 70968220 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27107 S 1 0 1 Single Asian sample YH TJP2 YH esv6281 9 70967761 70968070 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28722 S 1 0 1 TJP2 SJK nsv416127 9 70967762 70968079 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434705 M 24 TJP2 esv2466554 9 70993713 70995306 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327363 S 1 0 1 TJP2 NA18507 esv2360364 9 70994175 70995004 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973274 S 1 0 1 TJP2 NA18507 esv2789 9 70994293 70995049 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25230 S 1 0 1 Single Asian sample YH TJP2 YH esv275313 9 71003391 71004973 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585652 S 1250 0 1 TJP2 esv994868 9 71017706 71017708 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584901 S 3 1 0 TJP2 HuRef esv1115137 9 71017709 71017709 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3767035 S 2 1 0 TJP2 HuRef nsv416623 9 71017710 71017710 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435201 M 24 TJP2 nsv525532 9 71028859 71032843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701667 S 2026 0 1 TJP2 nsv831610 9 71036761 71206655 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447818 S 95 1 0 FAM189A2,TJP2 esv2553986 9 71084728 71087293 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5202451 S 1 0 1 "" NA18507 nsv512103 9 71085034 71086740 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624660 S 1 0 1 "" 1 esv26927 9 71085050 71086301 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17781 S 451 0 31 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12828,NA12878,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820687 9 71085050 71086379 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420811 S 1 0 1 "" NA10851 esv2210971 9 71085090 71086512 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4855148 S 1 0 1 "" NA18507 esv9577 9 71085160 71086509 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32018 S 1 0 1 "" SJK nsv511406 9 71085189 71086070 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626014 S 1 0 1 "" 1 esv988008 9 71085402 71086301 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586451 S 3 1 0 "" HuRef nsv893428 9 71116478 71217461 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586988 S 6533 1 0 FAM189A2 IS37986 esv1110839 9 71134807 71134889 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323453 S 2 0 1 FAM189A2 HuRef nsv415460 9 71134865 71134945 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434038 M 24 FAM189A2 dgv8247n71 9 71151743 71237157 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893429,nsv893430 M 6533 2 0 APBA1,FAM189A2 IS33248,IS40291 nsv893431 9 71192856 71237918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551981 S 6533 0 1 APBA1,FAM189A2 MS19068 nsv8522 9 71199092 71224555 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19238,nssv16331,nssv18517,nssv20991,nssv17794 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA10839,NA11830,NA12155,NA12872,NA18860 dgv2387e1 9 71208066 71237918 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1126,essv8526 M 271 0 0 APBA1 NA18523 nsv893432 9 71218143 71246217 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505241 S 6533 1 0 APBA1 SP53333 esv2422080 9 71219420 71238848 CNV Duplication Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052250,essv5009385,essv5057350,essv5105166,essv5132538,essv5078778,essv5149405,essv5094901,essv5058543,essv5024156,essv5065690,essv5049869,essv5071358,essv5023729,essv5115738,essv5139202,essv5036376,essv5011004,essv5137995,essv5084299,essv5149151,essv5038826,essv5115914,essv5056222,essv5124067,essv5067473,essv5123100,essv5124919,essv5039858,essv5155946,essv5144125,essv5144183,essv5002519,essv5086838,essv5061494,essv5141063,essv5041869,essv5008336,essv5051075,essv5015107,essv5024839,essv5086082,essv5041025,essv5132594,essv5140536,essv5116881,essv5117536,essv5067587,essv5139901,essv5098853,essv5137091,essv5068680,essv5069766,essv5154848,essv5016621,essv5089186,essv5137053,essv5124677,essv5081049,essv5073923,essv5081028,essv5122159 M 1184 62 0 APBA1 NA17975,NA17979,NA18109,NA18499,NA18506,NA18508,NA18509,NA18510,NA18511,NA18917,NA18930,NA18956,NA19116,NA19138,NA19139,NA19141,NA19181,NA19201,NA19213,NA19225,NA19247,NA19249,NA19319,NA19321,NA19327,NA19346,NA19371,NA19380,NA19456,NA19463,NA19679,NA19908,NA19916,NA19918,NA19919,NA19982,NA19983,NA20340,NA20346,NA20347,NA20348,NA20349,NA20350,NA20797,NA21144,NA21302,NA21303,NA21352,NA21364,NA21385,NA21414,NA21478,NA21517,NA21527,NA21528,NA21583,NA21596,NA21619,NA21631,NA21682,NA21716,NA21741 esv29180 9 71224545 71238845 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15039 S 451 3 0 APBA1 NA18508,NA18523,NA19225 nsv442554 9 71225013 71238848 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 APBA1 nsv520760 9 71225667 71238297 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680064,nssv675046 M 2026 2 0 APBA1 nsv818703 9 71225667 71238297 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416951,nssv1416952,nssv1416653,nssv1415883 M 112 4 0 APBA1 NA19116,NA19138,NA19139,NA19141 nsv6551 9 71237593 71251217 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10670 S 9 1 0 APBA1 NA18956 nsv515519 9 71281233 71308782 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678641,nssv686124,nssv679148,nssv661864,nssv666088,nssv651809,nssv655439,nssv658314,nssv657632,nssv655725,nssv691788,nssv672478,nssv693526,nssv664193,nssv681182,nssv677635,nssv671411 M 2026 5 12 APBA1 dgv8248n71 9 71281233 71324196 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893434,nsv893433 M 6533 9 21 APBA1 IS30814,IS32289,IS33544,IS34134,IS34820,IS34912,IS35495,IS36412,IS36492,IS38078,IS38472,IS39321,MS10166,MS10311,MS13810,MS16206,MS24837,MS25052,SP50586,SP52371,SP52607,SP53242,SP53969,SP54760,SP55513,SP56539,SP81266,SP81352,SP81440,SP81467 nsv466399 9 71281233 71324196 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541948 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA1 HGDP00464 nsv893435 9 71281233 71337520 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564206 S 6533 0 1 APBA1 IS30180 nsv8523 9 71281359 71317206 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv19268 S 31 0 1 Samples from several populations that are part of the HapMap project. APBA1 NA12155 nsv819768 9 71284862 71316919 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418719 S 2 0 1 APBA1 AK1 esv2421796 9 71287475 71308782 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5003999,essv5156002,essv5079511,essv5114517,essv5113205,essv5019208,essv5021582,essv5127794,essv5135074,essv5132818,essv5126094,essv5094378,essv5158113,essv5065249,essv5066356,essv5006183,essv5138133,essv5022992,essv5080298,essv5132666,essv5110292,essv5009256,essv5075918,essv5119046,essv5033640,essv5111787,essv5049952,essv5132784,essv5081761,essv5088466,essv5124731,essv5153127,essv5061863,essv5150380 M 1184 15 19 APBA1 NA10831,NA12155,NA18670,NA18862,NA18863,NA18910,NA18952,NA18953,NA19140,NA19208,NA19235,NA19318,NA19380,NA19457,NA19676,NA19677,NA19835,NA20301,NA20317,NA20319,NA21086,NA21144,NA21355,NA21451,NA21473,NA21524,NA21525,NA21526,NA21529,NA21635,NA21647,NA21648,NA21650,NA21678 dgv1222n67 9 71287928 71310590 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824945,nsv824944 M 31 0 3 APBA1 AK14,AK16,AK4 nsv442151 9 71288388 71309940 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 APBA1 nsv515150 9 71288392 71310240 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628020 S 1414 0 0 APBA1 esv34257 9 71289871 71304366 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987785,essv6980400,essv6980401 M 771 0 1 APBA1 NA10831 dgv939n27 9 71289871 71308782 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466412,nsv466402,nsv466407,nsv466404 M 1557 4 0 APBA1 1780862345_A,HGDP00454,HGDP00557,HGDP00579 dgv940n27 9 71289871 71308782 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466400,nsv466410,nsv466403,nsv466405,nsv466401,nsv466408,nsv466411,nsv466409,nsv466414 M 1557 0 9 APBA1 1780862043_A,HGDP00125,HGDP00167,HGDP00460,HGDP00571,HGDP00688,HGDP00727,HGDP00815,HGDP01294 nsv471307 9 71289871 71308782 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545858,nssv545860,nssv545856,nssv545859,nssv545857 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA1 HGDP00460,HGDP00571,HGDP00592,HGDP00688,HGDP01088 nsv471308 9 71289871 71308782 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545862,nssv545863,nssv545866,nssv545867,nssv545864,nssv545861 M 443 6 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA1 HGDP00453,HGDP00454,HGDP00455,HGDP00464,HGDP00557,HGDP00598 nsv818704 9 71289871 71308782 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417458,nssv1415895 M 112 2 0 APBA1 NA18953,NA19140 esv34446 9 71289871 71324196 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980108,essv6980107 M 771 1 0 APBA1 NA18953 nsv466413 9 71289871 71349994 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541961 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA1 HGDP00598 nsv466415 9 71289938 71322019 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541963 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA1 HGDP00594 dgv2388e1 9 71290389 71324196 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21606,essv23164,essv14028,essv11304,esv980,essv516,essv3839 M 271 0 0 APBA1 NA10831,NA12155,NA18862,NA18863,NA18952,NA18953 nsv893436 9 71291222 71317392 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504789 S 6533 1 0 APBA1 SP52729 nsv438107 9 71296449 71298897 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470104 S 269 0 1 Samples from several populations that are part of the HapMap project. APBA1 NA18953 nsv893437 9 71308782 71412996 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586989 S 6533 1 0 APBA1 IS37986 nsv415787 9 71392838 71392838 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434365 M 24 APBA1 nsv471309 9 71463718 71600143 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545868 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations APBA1,PTAR1 HGDP00290 esv259646 9 71487968 71488652 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393756,essv2394276 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv259956 9 71487978 71488657 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395600,essv2396591,essv2400626,essv2395021,essv2399324,essv2399444,essv2400073,essv2398425,essv2398217,essv2400659,essv2401026,essv2394836,essv2399807,essv2398684,essv2396006,essv2400525,essv2394493 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18507,NA18510,NA18519,NA18522,NA18858,NA18861,NA18871,NA18909,NA18912,NA19099,NA19114,NA19129,NA19190,NA19238,NA19240,NA19257 nsv831611 9 71551725 71701954 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447819 S 95 1 0 C9orf135,LOC494558,PTAR1 nsv893438 9 71553812 71910258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586990 S 6533 1 0 C9orf135,LOC494558,MAMDC2,PTAR1 IS37986 nsv6552 9 71620264 71654798 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2811 S 9 1 0 C9orf135,LOC494558 NA18555 nsv831612 9 71663598 71824073 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447820 S 95 1 0 C9orf135 nsv471310 9 71668866 71698122 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545869 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf135 HGDP00704 nsv466416 9 71668866 71703060 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541964 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf135 HGDP00704 nsv893439 9 71690776 71758782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598234 S 6533 0 1 C9orf135 IS40902 esv32574 9 71692745 71692896 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96891,essv95634 M 51 0 2 C9orf135 21817,21841 nsv524309 9 71703997 71717508 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700211 S 2026 0 1 C9orf135 nsv515734 9 71710090 71720135 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664624,nssv655376 M 2026 0 2 C9orf135 esv1011383 9 71732574 71745829 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563647 S 3 0 1 "" HuRef esv2636779 9 71745592 71747071 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354054 S 1 0 1 "" NA18507 nsv831613 9 71775878 71929881 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447821 S 95 1 0 MAMDC2 nsv510192 9 71799718 71805718 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622176 S 4 0 1 "" NA10860 esv1107772 9 71808619 71808619 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348651 S 2 1 0 "" HuRef nsv415477 9 71819048 71827580 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434055 M 24 "" esv4709 9 71842971 71843286 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27150 S 1 0 1 Single Asian sample YH "" YH nsv824946 9 71951826 71953252 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428187 S 31 0 1 MAMDC2 NA18947 nsv824947 9 71951826 71954570 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423196 S 31 0 1 MAMDC2 NA18547 esv22588 9 71952058 71953288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16659 S 451 0 6 MAMDC2 NA11993,NA12006,NA12414,NA12489,NA18523,NA18858 nsv6553 9 71962751 71978792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10671 S 9 1 0 LOC100507244,MAMDC2 NA18956 nsv6555 9 72029790 72064547 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3724,nssv5160 M 9 2 0 LOC100507299,MAMDC2,SMC5 NA12878,NA19129 nsv831615 9 72042525 72209512 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447822 S 95 1 0 KLF9,LOC100507299,SMC5 nsv507515 9 72101195 72107195 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617792,nssv621943 M 4 2 0 SMC5 CHM,NA10860 esv2484591 9 72118835 72120436 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222936 S 1 0 1 SMC5 NA18507 esv272756 9 72163288 72163785 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578915 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv428219 9 72196089 72382355 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451757 S 62 0 1 KLF9,TRPM3 HGDP00449 esv1491500 9 72213841 72213841 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092286 S 2 1 0 KLF9 HuRef nsv831616 9 72267675 72410748 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447823 S 95 1 0 TRPM3 esv1002050 9 72273848 72273848 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581475 S 3 1 0 "" HuRef esv1662126 9 72273849 72273849 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729475 S 2 1 0 "" HuRef esv269394 9 72383771 72384218 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504019 S 157 1 0 Samples from several populations that are part of the HapMap project. TRPM3 hapmap_pooled_sample_set nsv893440 9 72415622 72624405 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586991 S 6533 1 0 MIR204,TRPM3 IS37986 esv268448 9 72442572 72442797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499430,essv2495510,essv2503104,essv2511084,essv2505603,essv2499679 M 157 6 0 Samples from several populations that are part of the HapMap project. TRPM3 NA12044,NA18916,NA18943,NA18944,NA19005,NA19225 nsv510944 9 72486034 72566862 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621612,nssv622391 M 4 0 0 TRPM3 NA10860,NA15510 nsv6556 9 72493978 72552918 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6280,nssv808,nssv9471,nssv10672,nssv3725,nssv5161,nssv9767 M 9 0 7 TRPM3 NA12156,NA12878,NA18507,NA18517,NA18956,NA19129,NA19240 esv999856 9 72503242 72545206 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564223 S 3 0 1 TRPM3 HuRef nsv499504 9 72506537 72542528 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586112 S 9 0 1 TRPM3 nsv508551 9 72519649 72537642 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617371,nssv622612 M 4 0 2 TRPM3 CHM,NA18994 esv8273 9 72552989 72553091 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30714 S 1 1 0 TRPM3 SJK esv272430 9 72606426 72606628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579086,essv2579559 M 7 2 0 Samples from several populations that are part of the HapMap project. TRPM3 NA19239,NA19240 esv270857 9 72606435 72606766 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558235,essv2546505,essv2532023,essv2550596,essv2547494,essv2558633,essv2553584,essv2566972,essv2545889,essv2574279 M 157 10 0 Samples from several populations that are part of the HapMap project. TRPM3 NA10851,NA11881,NA12006,NA12155,NA12717,NA12750,NA12763,NA18853,NA19239,NA19240 esv22135 9 72631918 72634542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14710,esv13599 M 451 0 5 TRPM3 NA12004,NA12044,NA12414,NA12878,NA18508 esv2572392 9 72653080 72654488 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5332895 S 1 0 1 TRPM3 NA18507 esv1931744 9 72653250 72653938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4719273 S 1 0 1 TRPM3 NA18507 esv1692487 9 72653432 72653748 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224616 S 2 0 1 TRPM3 HuRef esv7523 9 72653436 72653735 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29964 S 1 0 1 TRPM3 SJK nsv521565 9 72657492 72657845 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698182 S 2026 0 1 TRPM3 nsv6557 9 72666398 72700600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2812 S 9 1 0 TRPM3 NA18555 nsv893441 9 72675854 72783934 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586992 S 6533 1 0 TRPM3 IS37986 dgv72n64 9 72690677 72700700 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818706,nsv818705 M 112 0 3 TRPM3 NA19137,NA19160,NA19161 nsv442152 9 72692075 72697041 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 TRPM3 nsv516833 9 72692244 72704778 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654303,nssv686611,nssv673816,nssv676067 M 2026 0 4 TRPM3 esv2540002 9 72721741 72722575 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5260103 S 1 1 0 TRPM3 NA18507 esv269578 9 72722273 72722606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546458,essv2521062,essv2522692,essv2556661,essv2568227,essv2577287,essv2550732,essv2525518,essv2520646,essv2547297,essv2529312,essv2558667,essv2559617,essv2576471,essv2532059,essv2562687,essv2578690,essv2558811,essv2537109,essv2539008,essv2561626,essv2556304,essv2562164,essv2533824,essv2575656,essv2526474,essv2524015,essv2530277,essv2545075,essv2549787,essv2545893,essv2574135,essv2533263,essv2554562 M 157 34 0 Samples from several populations that are part of the HapMap project. TRPM3 NA07051,NA07346,NA11881,NA11894,NA11931,NA11994,NA11995,NA12043,NA12155,NA12156,NA12716,NA12717,NA12749,NA12750,NA12776,NA12814,NA18505,NA18507,NA18510,NA18516,NA18517,NA18519,NA18523,NA18871,NA18909,NA18916,NA19099,NA19114,NA19129,NA19141,NA19172,NA19225,NA19239,NA19240 esv273560 9 72722273 72722606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582112,essv2582503,essv2583187,essv2584613,essv2583502 M 7 5 0 Samples from several populations that are part of the HapMap project. TRPM3 NA12878,NA12891,NA12892,NA19239,NA19240 nsv6558 9 72778911 72790195 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8609 S 9 0 1 TRPM3 NA12156 esv1341286 9 72779069 72779069 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4361700 S 2 1 0 TRPM3 HuRef esv26755 9 72783724 72787016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15365 S 451 0 3 TRPM3 NA07037,NA11894,NA18517 esv1118924 9 72836695 72836765 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4031838 S 2 0 1 TRPM3 HuRef nsv527618 9 72945254 72946351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704084 S 2026 0 1 "" nsv527238 9 72945422 72946351 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703639 S 2026 1 0 "" nsv466418 9 72947390 72958368 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541966 S 1557 0 1 "" NINDS_174 nsv522946 9 72956845 72961436 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698612 S 2026 0 1 "" nsv893442 9 72968322 73305164 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586993 S 6533 1 0 "" IS37986 nsv893443 9 73048906 73198725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527174 S 6533 0 1 "" SP58209 esv275323 9 73051378 73052760 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585232,essv2585506 M 1250 1 1 "" nsv512989 9 73086458 73087185 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625645 S 1 1 0 "" 1 esv2235219 9 73086735 73087323 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4950261 S 1 0 1 "" NA18507 nsv471311 9 73091968 73106773 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545870 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00876 nsv521140 9 73097445 73099601 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684609,nssv682857 M 2026 2 0 "" nsv528257 9 73097445 73105355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704823 S 2026 1 0 "" esv5643 9 73103044 73103107 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28084 S 1 1 0 "" SJK nsv466419 9 73104189 73130010 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541967 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00534 esv267798 9 73113508 73113781 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526031,essv2553917,essv2564269,essv2530739,essv2533235 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11918,NA12287,NA12828,NA12873 esv2549981 9 73136138 73136824 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254582 S 1 1 0 "" NA18507 dgv486n21 9 73173713 73174214 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526220,nsv520199 M 2026 0 2 "" esv5339 9 73182092 73187704 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27780 S 1 0 1 Single Asian sample YH "" YH esv267555 9 73208541 73208641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500439,essv2494417,essv2500088,essv2496075,essv2507543,essv2504977,essv2502405,essv2495206,essv2501462,essv2506941,essv2506439 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18572,NA18573,NA18603,NA18638,NA18942,NA18948,NA18964,NA19093,NA19102,NA19108 esv1647581 9 73225603 73225603 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4247980 S 2 1 0 "" HuRef esv1008263 9 73360372 73361081 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587007 S 3 0 1 "" HuRef nsv831617 9 73371288 73518417 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447824 S 95 1 0 TMEM2 nsv8525 9 73443658 73450738 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18020 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18853 nsv436607 9 73445407 73451023 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466537 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2609454 9 73445495 73450200 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261252 S 1 0 1 "" NA18507 esv2443898 9 73445751 73450638 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194715 S 1 0 1 "" NA18507 esv2335561 9 73446286 73450145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825837 S 1 0 1 "" NA18507 nsv442556 9 73446556 73448642 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv2389e1 9 73446673 73452020 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16566,esv1268 M 271 0 0 "" NA19193 nsv515151 9 73447728 73448752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628021 S 1414 0 1 "" esv2250994 9 73459020 73459692 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4625831 S 1 0 1 "" NA18507 esv4220 9 73459159 73459542 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26661 S 1 0 1 Single Asian sample YH "" YH nsv416820 9 73459206 73459486 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435398 M 24 "" esv9683 9 73459208 73459483 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32124 S 1 0 1 "" SJK esv1607344 9 73459216 73459497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166703 S 2 0 1 "" HuRef nsv893444 9 73460052 73494918 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584317 S 6533 1 0 TMEM2 IS36973 nsv507516 9 73526003 73532003 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620448,nssv621944 M 4 2 0 TMEM2 NA10860,NA15510 nsv416322 9 73557225 73557225 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434900 M 24 TMEM2 nsv520949 9 73583663 73600575 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697704 S 2026 0 1 "" nsv831618 9 73702900 73925119 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447825 S 95 0 1 C9orf57,C9orf85,FAM108B1,GDA esv2555630 9 73707108 73708463 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339560 S 1 0 1 FAM108B1 NA18507 esv267786 9 73734579 73734919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565767,essv2540804,essv2546607,essv2536796,essv2522927,essv2544035,essv2556652,essv2568138,essv2545351,essv2523410,essv2531795,essv2577246,essv2570509,essv2548188,essv2521670,essv2550397,essv2535272,essv2547423,essv2558697,essv2564754,essv2577826,essv2553848,essv2576184,essv2520174,essv2564273,essv2554918,essv2530696,essv2537245,essv2546784,essv2530497,essv2520920,essv2552619,essv2562622,essv2578532,essv2569835,essv2527329,essv2544724,essv2552833,essv2541244,essv2542829,essv2540606,essv2534817,essv2561009,essv2539769,essv2549213,essv2559939,essv2530928,essv2532624,essv2567599,essv2541544,essv2570181,essv2563931,essv2535842,essv2572510,essv2551054,essv2569179,essv2556269,essv2562437,essv2533892,essv2578469,essv2572976,essv2533626,essv2567190,essv2566682,essv2529956,essv2574017,essv2527688,essv2555985,essv2534375,essv2522349,essv2531590,essv2543154,essv2577102,essv2571942,essv2529639,essv2575234,essv2538820,essv2560928,essv2530316,essv2568586,essv2545233,essv2548099,essv2538114,essv2525189,essv2563323,essv2557887 M 157 86 0 Samples from several populations that are part of the HapMap project. C9orf85 NA07000,NA07357,NA10847,NA10851,NA11829,NA11831,NA11881,NA11920,NA11931,NA11992,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12234,NA12249,NA12717,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12828,NA12872,NA12873,NA12878,NA12892,NA18486,NA18498,NA18502,NA18507,NA18510,NA18520,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18561,NA18562,NA18563,NA18564,NA18570,NA18573,NA18576,NA18582,NA18592,NA18593,NA18603,NA18608,NA18609,NA18858,NA18861,NA18871,NA18909,NA18916,NA18940,NA18942,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18965,NA18970,NA18973,NA19093,NA19102,NA19108,NA19137,NA19141,NA19147,NA19172,NA19210 esv273935 9 73734579 73734919 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582118,essv2582760,essv2582863,essv2584078,essv2584661,essv2583490 M 7 6 0 Samples from several populations that are part of the HapMap project. C9orf85 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv521672 9 73756246 73765001 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698290 S 2026 0 1 C9orf85 nsv893445 9 73808496 74127323 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586994 S 6533 1 0 C9orf57,GDA IS37986 esv2531810 9 73834171 73835271 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228987 S 1 1 0 "" NA18507 esv22526 9 73857536 73858417 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13763 S 451 1 0 C9orf57 NA19114 nsv515763 9 73869274 73885264 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687377,nssv689255,nssv667813,nssv672293,nssv655377,nssv683573,nssv652075 M 2026 0 7 "" nsv893446 9 73884517 73987129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584318 S 6533 1 0 GDA IS36973 nsv524550 9 73896311 73906257 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700501 S 2026 1 0 "" nsv466420 9 73937607 73946362 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541968 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GDA HGDP01318 esv2634959 9 74016289 74018840 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206297 S 1 0 1 GDA NA18507 esv23213 9 74073163 74073974 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12966 S 451 1 0 "" NA11995 nsv6559 9 74078435 74100542 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9922,nssv6281 M 9 2 0 "" NA12156,NA18507 esv268956 9 74086456 74086541 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513805 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 esv1010674 9 74092079 74096368 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563721 S 3 1 0 "" HuRef esv271747 9 74094712 74094797 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514088,essv2517910 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12872 esv274577 9 74150324 74150542 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578895 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv269302 9 74150356 74150441 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513970,essv2518857 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA19143,NA19239 nsv831619 9 74277754 74445185 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447826,nssv1447827 M 95 0 2 TMC1 esv270294 9 74285120 74285606 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518731 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 esv1711413 9 74293253 74293253 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118039 S 2 1 0 "" HuRef nsv831620 9 74354847 74544469 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447829 S 95 0 1 TMC1 nsv893447 9 74401423 74617644 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1524758 S 6533 1 0 TMC1 SP55209 nsv893448 9 74419068 74500854 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584319 S 6533 1 0 TMC1 IS36973 esv2652527 9 74421018 74421826 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5314026 S 1 1 0 TMC1 NA18507 esv271909 9 74421328 74421666 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517078,essv2514869,essv2515527,essv2517785,essv2516275,essv2516860,essv2513992,essv2518947 M 157 8 0 Samples from several populations that are part of the HapMap project. TMC1 NA11931,NA12234,NA12815,NA12878,NA12891,NA12892,NA19143,NA19239 esv273406 9 74421332 74421662 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584767,essv2583309 M 7 2 0 Samples from several populations that are part of the HapMap project. TMC1 NA19239,NA19240 esv1000190 9 74448498 74453014 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565717 S 3 1 0 TMC1 HuRef esv268860 9 74452480 74453842 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508842,essv2500323,essv2503719,essv2495747 M 157 4 0 Samples from several populations that are part of the HapMap project. TMC1 NA07000,NA12878,NA12891,NA18960 esv273677 9 74452485 74453807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580214,essv2580445 M 7 2 0 Samples from several populations that are part of the HapMap project. TMC1 NA12878,NA12891 nsv893449 9 74453494 74536439 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586995 S 6533 1 0 TMC1 IS37986 nsv416490 9 74600598 74600598 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435068 M 24 TMC1 esv272215 9 74605420 74605729 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580479 S 7 1 0 Samples from several populations that are part of the HapMap project. TMC1 NA12891 esv271369 9 74605438 74605778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570767,essv2570723,essv2554296,essv2577972,essv2528595,essv2537014,essv2561501,essv2543062,essv2548743,essv2533327 M 157 10 0 Samples from several populations that are part of the HapMap project. TMC1 NA07037,NA07051,NA11993,NA12044,NA12287,NA12761,NA12891,NA18517,NA18523,NA18965 nsv527600 9 74616809 74642380 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704062 S 2026 0 1 TMC1 nsv893450 9 74617644 74753377 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584320 S 6533 1 0 ALDH1A1,TMC1 IS36973 esv270202 9 74640387 74640676 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510197,essv2507988,essv2495754 M 157 3 0 Samples from several populations that are part of the HapMap project. TMC1 NA07000,NA10851,NA12003 nsv6560 9 74641600 74687263 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6282 S 9 0 1 "" NA12156 esv1650787 9 74645083 74645668 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3913421 S 2 0 1 "" HuRef esv1768799 9 74645711 74646239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034542 S 2 0 1 "" HuRef esv1350188 9 74655792 74655846 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3888434 S 2 0 1 "" HuRef esv1423816 9 74655863 74656111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3956779 S 2 0 1 "" HuRef nsv893451 9 74702120 74719708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519776 S 6533 1 0 ALDH1A1 SP50544 esv267946 9 74732772 74733110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575801,essv2571624,essv2546381,essv2526226,essv2542553,essv2536474,essv2544095,essv2570865,essv2556520,essv2545361,essv2523171,essv2531898,essv2577377,essv2548449,essv2521807,essv2576520,essv2550327,essv2534978,essv2544379,essv2552033,essv2520478,essv2547357,essv2558586,essv2564751,essv2553540,essv2559684,essv2565556,essv2576157,essv2555002,essv2530790,essv2537331,essv2547063,essv2520748,essv2532045,essv2523831,essv2524310,essv2534742,essv2561183,essv2539677,essv2549517,essv2519815,essv2560025,essv2565985,essv2532725,essv2528908,essv2570198,essv2553150,essv2535517,essv2559306,essv2550955,essv2562542,essv2578211,essv2573032,essv2533688,essv2530151,essv2573867,essv2527579,essv2557628,essv2534424,essv2573626,essv2543237,essv2525574,essv2529723,essv2575481,essv2572812,essv2560264,essv2549671,essv2545773,essv2536176,essv2533274,essv2554613,essv2547631,essv2525177,essv2563273 M 157 74 0 Samples from several populations that are part of the HapMap project. ALDH1A1 NA06986,NA07051,NA07346,NA07347,NA07357,NA10847,NA11830,NA11840,NA11881,NA11918,NA11919,NA11920,NA11992,NA11993,NA11994,NA12003,NA12004,NA12006,NA12043,NA12045,NA12144,NA12154,NA12234,NA12249,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12763,NA12776,NA12812,NA12814,NA12872,NA12873,NA12878,NA12892,NA18498,NA18505,NA18537,NA18555,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18576,NA18579,NA18593,NA18605,NA18608,NA18638,NA18858,NA18909,NA18940,NA18942,NA18944,NA18949,NA18951,NA18952,NA18953,NA18959,NA18964,NA18965,NA18980,NA19093,NA19099,NA19143,NA19190,NA19225,NA19239 esv272222 9 74732772 74733110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581967,essv2583111 M 7 2 0 Samples from several populations that are part of the HapMap project. ALDH1A1 NA12878,NA12892 esv991190 9 74732788 74732788 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569155 S 3 1 0 ALDH1A1 HuRef nsv893452 9 74757107 75510718 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586996 S 6533 1 0 ALDH1A1,ANXA1 IS37986 esv268312 9 74761407 74761723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496905 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19190 nsv519713 9 74784376 74805008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697008 S 2026 0 1 "" nsv526225 9 74792723 75176999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702491 S 2026 1 0 ANXA1 esv33586 9 74798586 74799000 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98002,essv94152 M 51 2 0 "" 22259,22394 esv2519709 9 74806123 74807549 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262017 S 1 0 1 "" NA18507 esv2629702 9 74858681 74860228 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176764 S 1 0 1 "" NA18507 esv2118753 9 74859139 74859816 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4996975 S 1 0 1 "" NA18507 esv4229 9 74859315 74859717 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26670 S 1 0 1 Single Asian sample YH "" YH esv7299 9 74859332 74859630 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29740 S 1 0 1 "" SJK esv2492032 9 74859341 74859619 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5323110 S 1 0 1 "" NA18507 esv991125 9 74859342 74859620 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568240 S 3 0 1 "" HuRef esv1453017 9 74859350 74859629 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3949036 S 2 0 1 "" HuRef esv1448399 9 74928500 74928645 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3612375 S 2 0 1 "" HuRef esv1623481 9 74928930 74928930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714877 S 2 1 0 "" HuRef esv1039496 9 74929023 74929023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3862301 S 2 1 0 "" HuRef nsv6561 9 74945463 74980419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv809 S 9 1 0 ANXA1 NA19240 nsv519796 9 74971951 74974147 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658757,nssv689256 M 2026 2 0 ANXA1 nsv519016 9 74978476 75018527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696484 S 2026 1 0 "" nsv893453 9 74993224 75026907 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570504 S 6533 0 1 "" IS32150 nsv893454 9 74993224 75062144 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567205 S 6533 0 1 "" IS31046 esv25774 9 74994044 75000199 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12686,esv19526 M 451 9 4 "" NA07037,NA07045,NA11995,NA12156,NA12239,NA12414,NA12749,NA15510,NA18517,NA19099,NA19108,NA19129,NA19147 nsv820507 9 74995705 74998254 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420812 S 1 0 1 "" NA10851 esv1006165 9 74996211 74998415 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586396 S 3 0 1 "" HuRef nsv6562 9 75044524 75089180 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8610 S 9 0 1 "" NA12156 esv28696 9 75208286 75217416 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18390 S 451 0 1 "" NA12489 nsv442153 9 75210678 75216486 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv27756 9 75250634 75252670 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11481 S 451 0 2 "" NA18858,NA19129 nsv442154 9 75257832 75268983 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv824948 9 75281663 75288167 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425926 S 31 1 0 "" AK4 nsv824949 9 75339171 75339786 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425140 S 31 0 1 "" AK2 nsv831621 9 75374116 75538540 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447831,nssv1447830 M 95 1 1 "" esv271917 9 75387593 75387931 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522940,essv2556461,essv2545535,essv2521511,essv2520569,essv2520030,essv2561986,essv2557302,essv2552577,essv2551707,essv2532134,essv2578616,essv2558872,essv2561617,essv2544647,essv2523553,essv2542798,essv2524375,essv2561033,essv2549509,essv2519797,essv2522099,essv2566294,essv2528906,essv2541478,essv2570139,essv2553215,essv2535499,essv2559338,essv2541967,essv2569142,essv2539490,essv2555220,essv2530081,essv2573901,essv2522637,essv2573572,essv2572085,essv2526901,essv2575579,essv2574544,essv2530276,essv2545085,essv2538131,essv2549118,essv2554456,essv2563446 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA10847,NA11931,NA11994,NA12003,NA12144,NA12716,NA12815,NA12874,NA18499,NA18502,NA18504,NA18505,NA18510,NA18516,NA18523,NA18526,NA18537,NA18550,NA18555,NA18562,NA18564,NA18566,NA18571,NA18572,NA18579,NA18592,NA18593,NA18605,NA18608,NA18638,NA18856,NA18861,NA18912,NA18943,NA18949,NA18951,NA18960,NA18964,NA18973,NA19005,NA19099,NA19138,NA19141,NA19172 esv2422439 9 75403381 76007948 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161562 S 181 0 1 "" ND01938 esv268986 9 75428569 75428917 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517527,essv2515715,essv2514287,essv2517705,essv2519375 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11918,NA12815,NA12874,NA12878 esv272159 9 75428569 75428917 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581091 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv824950 9 75435067 75435685 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425927 S 31 1 0 "" AK4 nsv466421 9 75451980 75510718 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541969 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00529 esv2556597 9 75472729 75474335 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329481 S 1 0 1 "" NA18507 nsv6563 9 75505406 75548276 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1787,nssv8611 M 9 2 0 "" NA12156,NA18555 nsv893455 9 75582705 75933321 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586997 S 6533 1 0 "" IS37986 esv2648264 9 75614385 75615886 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238463 S 1 0 1 "" NA18507 dgv8249n71 9 75617799 75921222 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893456,nsv893459 M 6533 0 2 "" IS39011,IS39861 dgv8250n71 9 75685370 75849735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893458,nsv893457 M 6533 0 2 "" IS36219,IS36656 esv269117 9 75707359 75707697 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494190,essv2506930,essv2509625 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19102,NA19129 dgv8251n71 9 75741009 75921222 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893461,nsv893460 M 6533 0 4 "" IS31330,IS35973,MS17114,MS22104 nsv516628 9 75766064 75815536 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654744,nssv669699 M 2026 2 0 "" nsv824951 9 75766601 75776823 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436817 S 31 0 1 "" NA18542 nsv6564 9 75777648 75823224 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6283 S 9 0 1 "" NA12156 esv2467435 9 75785903 75787262 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5195473 S 1 0 1 "" NA18507 nsv416261 9 75850720 75850720 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434839 M 24 "" esv6183 9 75913755 75913952 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28624 S 1 0 0 "" SJK nsv416693 9 75913765 75913765 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435271 M 24 "" esv29851 9 75934642 75936716 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20120 S 451 0 2 "" NA18523,NA19240 esv28239 9 75979493 75980624 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13978 S 451 0 1 "" NA19190 esv259469 9 76050639 76050904 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394177,essv2393916 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 nsv416981 9 76050742 76050742 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435559 M 24 "" esv1637168 9 76050809 76050809 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141937 S 2 1 0 "" HuRef nsv6566 9 76058593 76093602 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv811 S 9 1 0 "" NA19240 esv274050 9 76082767 76083040 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580948,essv2579182,essv2579505 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 esv270359 9 76082876 76082982 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496604,essv2496742,essv2494384,essv2493250,essv2504237,essv2509834,essv2496512,essv2501173,essv2494811,essv2509072,essv2501006,essv2505743,essv2494017,essv2513429,essv2507348,essv2495681,essv2501471,essv2506933,essv2506695,essv2509553,essv2498792,essv2497735,essv2496911,essv2511962,essv2501791,essv2498175 M 157 26 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18498,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18519,NA18522,NA18856,NA18861,NA18871,NA18907,NA18912,NA18916,NA19093,NA19102,NA19108,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240 nsv513686 9 76086594 76088133 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626938 S 1 0 0 "" 1 nsv436685 9 76087023 76088026 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466538 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv2572393 9 76087856 76088257 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320231 S 1 0 0 "" NA18507 nsv512990 9 76087874 76088355 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625646 S 1 1 0 "" 1 nsv499406 9 76087959 76088210 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585456 S 9 1 0 "" esv1659883 9 76087960 76088209 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018532 S 2 0 0 "" HuRef nsv893462 9 76146103 76174572 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546181 S 6533 0 1 "" MS17114 esv2581117 9 76150422 76153466 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5374721 S 1 0 1 "" NA18507 esv1451367 9 76151306 76151306 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4366314 S 2 1 0 "" HuRef esv1653688 9 76151534 76151590 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144205 S 2 0 1 "" HuRef nsv516412 9 76162047 76164740 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669487,nssv691176,nssv680417,nssv668195 M 2026 0 4 "" nsv507517 9 76170479 76176479 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620449 S 4 1 0 "" NA15510 nsv893463 9 76174572 76336288 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586998 S 6533 1 0 RORB IS37986 nsv831622 9 76238820 76336836 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447832 S 95 1 0 RORB esv1173008 9 76272441 76272511 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940630 S 2 0 1 "" HuRef dgv487n21 9 76290479 76353826 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528271,nsv527927 M 2026 2 0 RORB nsv893464 9 76319664 76473709 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584321 S 6533 1 0 RORB IS36973 esv990769 9 76363393 76363458 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576458 S 3 0 1 RORB HuRef esv1321162 9 76363443 76363509 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758309 S 2 0 1 RORB HuRef nsv517655 9 76444154 76454366 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652681,nssv689532 M 2026 0 2 RORB nsv831623 9 76448078 76618117 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447834,nssv1447833,nssv1447835 M 95 1 2 RORB,TRPM6 nsv6567 9 76451868 76496658 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8612 S 9 0 1 RORB NA12156 nsv831624 9 76502428 76697246 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447837,nssv1447836 M 95 1 1 TRPM6 esv1216444 9 76504122 76504122 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3805411 S 2 1 0 "" HuRef nsv528498 9 76504954 76507893 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705103 S 2026 0 1 "" esv2612518 9 76508313 76509931 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238955 S 1 0 1 "" NA18507 dgv8252n71 9 76597456 76735058 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893466,nsv893465 M 6533 2 0 TRPM6 IS37986,MS14316 nsv517373 9 76691980 76692142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674763,nssv665405,nssv656906,nssv682276,nssv667304,nssv651839,nssv658569,nssv678483,nssv682506 M 2026 0 9 TRPM6 nsv518879 9 76713510 76735058 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696336 S 2026 1 0 "" esv2643327 9 76713671 76715134 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5269168 S 1 0 1 "" NA18507 esv1965711 9 76713791 76714315 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4859503 S 1 0 1 "" NA18507 nsv415948 9 76713971 76714157 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434526 M 24 "" esv1353606 9 76713975 76714162 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651309 S 2 0 1 "" HuRef nsv518305 9 76748127 76755437 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695736 S 2026 0 1 C9orf40 nsv507518 9 76752659 76758659 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617793 S 4 1 0 C9orf40 CHM nsv509303 9 76767688 76776927 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618076 S 4 1 0 "" CHM esv988386 9 76777240 76777342 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565064 S 3 1 0 "" HuRef nsv893467 9 76824787 76945289 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587000 S 6533 1 0 C9orf41,C9orf95,OSTF1 IS37986 nsv416909 9 76850989 76851038 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435487 M 24 "" nsv893468 9 76916456 76969964 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587721 S 6533 1 0 OSTF1 IS38103 nsv893469 9 76956674 77126208 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584197,nssv1544731 M 6533 2 0 "" IS36899,MS16455 esv275103 9 77044981 77050232 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585556,essv2586103 M 1250 1 1 "" esv2102115 9 77188289 77188700 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914926 S 1 0 1 "" NA18507 nsv416211 9 77188467 77188586 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434789 M 24 "" esv27442 9 77194155 77201776 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19288 S 451 0 6 "" NA06985,NA07037,NA11995,NA12044,NA12156,NA12239 nsv821664 9 77197017 77197770 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421237,nssv1421238 M 31 0 2 "" nsv416828 9 77231018 77231018 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435406 M 24 "" nsv893470 9 77259223 77309179 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584322 S 6533 1 0 "" IS36973 esv25664 9 77279129 77281953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15853 S 451 0 6 "" NA11993,NA12004,NA12006,NA12776,NA19108,NA19114 nsv893471 9 77316090 77408051 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587001 S 6533 1 0 "" IS37986 esv268858 9 77316442 77316866 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501253 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19093 nsv6568 9 77384770 77416008 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8613 S 9 0 1 "" NA12156 esv1645407 9 77452123 77452184 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243327 S 2 0 1 "" HuRef nsv428220 9 77506714 77683583 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451760,nssv451759 M 62 2 0 "" HGDP00474,HGDP00984 nsv831626 9 77516153 77684326 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447838 S 95 0 1 "" nsv528032 9 77516320 77562848 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704563 S 2026 0 1 "" nsv893472 9 77518581 77904900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581616 S 6533 1 0 PCSK5 IS35670 nsv526918 9 77520871 77521795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703280 S 2026 0 1 "" esv1008996 9 77563711 77568295 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564054 S 3 1 0 "" HuRef nsv893473 9 77628762 77821106 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587002 S 6533 1 0 PCSK5 IS37986 esv988212 9 77707215 77712449 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564030 S 3 0 1 PCSK5 HuRef esv9306 9 77815623 77815723 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31747 S 1 1 0 PCSK5 SJK nsv831627 9 77840954 78007489 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447840 S 95 0 1 PCSK5 esv33354 9 77862024 77932046 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97511 S 51 0 1 PCSK5 21616 esv1368287 9 77883975 77884063 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3830111 S 2 0 1 PCSK5 HuRef esv2199133 9 77926360 77927061 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4721443 S 1 0 1 PCSK5 NA18507 esv1007851 9 77926549 77926860 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568640 S 3 0 1 PCSK5 HuRef esv2576493 9 77926549 77926860 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177243 S 1 0 1 PCSK5 NA18507 esv1627785 9 77926555 77926867 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3638465 S 2 0 1 PCSK5 HuRef esv28691 9 77930062 77931507 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13128 S 451 3 0 PCSK5 NA12006,NA12828,NA18907 nsv437647 9 77931945 77932971 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467528 S 60 0 1 Samples from several populations that are part of the HapMap project. PCSK5 NA19211 nsv6569 9 77932376 77966193 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5162 S 9 1 0 PCSK5 NA19129 nsv893474 9 77943144 77974145 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587003 S 6533 1 0 PCSK5 IS37986 nsv893475 9 77943144 78007108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581617 S 6533 1 0 PCSK5 IS35670 nsv893476 9 77958650 78077812 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580158 S 6533 1 0 PCSK5 IS35231 nsv466422 9 77965390 77986342 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541970 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations PCSK5 HGDP00797 nsv508552 9 78054733 78146146 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620026 S 4 0 1 PCSK5 NA15510 nsv893477 9 78082346 78122748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581618 S 6533 1 0 PCSK5 IS35670 esv270678 9 78085578 78085903 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518534 S 157 1 0 Samples from several populations that are part of the HapMap project. PCSK5 NA12287 nsv521139 9 78092769 78093346 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697810 S 2026 1 0 PCSK5 nsv523103 9 78092769 78093843 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698799 S 2026 0 1 PCSK5 esv1010025 9 78102006 78112217 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564269 S 3 0 1 PCSK5 HuRef nsv435888 9 78109008 78114376 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466540 S 2 0 1 PCSK5 NA15510 nsv512104 9 78109141 78112025 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624661 S 1 0 1 PCSK5 1 esv4993 9 78109252 78111994 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27434 S 1 0 1 Single Asian sample YH PCSK5 YH esv995792 9 78109270 78111663 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578538 S 3 0 1 PCSK5 HuRef esv1007112 9 78109371 78111899 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586430 S 3 1 0 PCSK5 HuRef esv24499 9 78109371 78111899 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17460 S 451 30 0 PCSK5 NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 nsv820404 9 78109371 78111899 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420814 S 1 0 1 PCSK5 NA10851 esv1579961 9 78109441 78111835 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932571 S 2 0 1 PCSK5 HuRef nsv526457 9 78113077 78114668 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702760 S 2026 0 1 PCSK5 nsv893478 9 78123694 78290826 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587004 S 6533 1 0 GCNT1,PCSK5,RFK,RPSAP9 IS37986 nsv893479 9 78161073 78465046 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1581619 S 6533 1 0 GCNT1,PCSK5,PRUNE2,RFK,RPSAP9 IS35670 nsv6570 9 78184802 78218923 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8614 S 9 1 0 RFK,RPSAP9 NA12156 nsv520423 9 78236937 78255119 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689821,nssv671339 M 2026 0 2 GCNT1 esv2304624 9 78248436 78248865 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4696758 S 1 0 1 GCNT1 NA18507 nsv893480 9 78305664 78412404 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587005 S 6533 1 0 GCNT1 IS37986 nsv437089 9 78306795 78329410 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466970 S 60 0 1 Samples from several populations that are part of the HapMap project. GCNT1 NA12740 nsv515152 9 78312136 78314960 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628022 S 1414 0 1 GCNT1 nsv442155 9 78312168 78315130 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv989355 9 78314270 78314649 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564447 S 3 0 1 "" HuRef esv3595 9 78314282 78314748 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26036 S 1 0 1 Single Asian sample YH "" YH nsv415505 9 78314333 78314648 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434083 M 24 "" esv1429411 9 78314339 78314655 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4190563 S 2 0 1 "" HuRef esv9280 9 78314341 78314644 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31721 S 1 0 1 "" SJK nsv517178 9 78340723 78354466 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654838,nssv652737,nssv669843,nssv659909,nssv670575,nssv679068,nssv653935,nssv692021,nssv683444,nssv677565,nssv668371,nssv677399,nssv655462,nssv666707 M 2026 0 14 "" esv1240351 9 78344332 78344332 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245868 S 2 1 0 "" HuRef esv1006869 9 78347784 78347944 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580331 S 3 0 1 "" HuRef esv1618886 9 78347837 78347998 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4354576 S 2 0 1 "" HuRef nsv527438 9 78415148 78420062 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703878 S 2026 1 0 PRUNE2 nsv510193 9 78426865 78432865 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622177,nssv621357,nssv618314,nssv624081 M 4 0 4 PRUNE2 CHM,NA10860,NA15510,NA18994 nsv893481 9 78493863 78538013 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584323 S 6533 1 0 PRUNE2 IS36973 esv271420 9 78520738 78521009 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494732,essv2512659,essv2508400,essv2500943,essv2505416,essv2500483,essv2501453 M 157 7 0 Samples from several populations that are part of the HapMap project. PRUNE2 NA18519,NA18577,NA18582,NA18856,NA18952,NA18956,NA19093 dgv2390e1 9 78555685 78863727 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv472,essv4064 M 271 0 0 FOXB2,PCA3,PRUNE2 NA18635 esv5447 9 78556126 78556219 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27888 S 1 1 0 PRUNE2 SJK nsv824952 9 78575564 78576141 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436819 S 31 0 1 PCA3,PRUNE2 NA18542 esv4747 9 78595895 78596464 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27188 S 1 0 1 Single Asian sample YH PRUNE2 YH esv267686 9 78641069 78641389 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521131,essv2526197,essv2554334,essv2555030,essv2537253,essv2547002,essv2571541,essv2574206 M 157 8 0 Samples from several populations that are part of the HapMap project. PRUNE2 NA11894,NA11918,NA12287,NA12872,NA12878,NA12892,NA19238,NA19240 esv272470 9 78641077 78641310 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581905,essv2582470,essv2583221,essv2584626 M 7 4 0 Samples from several populations that are part of the HapMap project. PRUNE2 NA12878,NA12891,NA12892,NA19239 nsv6571 9 78668328 78700395 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6284 S 9 1 0 PRUNE2 NA12156 nsv8526 9 78671696 78673890 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20473 S 31 0 1 Samples from several populations that are part of the HapMap project. PRUNE2 NA18504 essv5453 9 78691921 78863727 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FOXB2,PRUNE2 NA18632 nsv8527 9 78737022 78740114 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21021,nssv21314,nssv18783,nssv19918,nssv23000,nssv21357,nssv17824 M 31 7 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA18517,NA18860,NA19132,NA19144,NA19221 nsv8528 9 78745304 78748193 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18516,nssv17432,nssv21344,nssv20503,nssv21387 M 31 0 5 Samples from several populations that are part of the HapMap project. "" NA07029,NA10863,NA18504,NA18517,NA19132 dgv195e180 9 78745563 78747927 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994993,esv996695 M 3 0 1 "" HuRef esv997421 9 78745582 78747923 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582541 S 3 0 1 "" HuRef esv23241 9 78745588 78747927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20876 S 451 0 9 "" NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA18517,NA19114 nsv831628 9 78745675 78888054 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447841 S 95 1 0 FOXB2 nsv515153 9 78746176 78748360 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628023 S 1414 0 1 "" nsv442557 9 78746701 78749156 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2643368 9 78772548 78773564 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201791 S 1 1 0 "" NA18507 esv272942 9 78772942 78773167 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578980 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv267685 9 78772958 78773195 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521230,essv2542349,essv2570874,essv2570409,essv2521867,essv2559588,essv2540131,essv2556923,essv2532417,essv2569236,essv2578781,essv2549995,essv2539156,essv2527273,essv2524329,essv2564982,essv2549521,essv2532523,essv2567438,essv2570110,essv2553169,essv2568980,essv2527766,essv2534156,essv2578467,essv2573029,essv2533581,essv2567028,essv2529944,essv2555954,essv2534450,essv2573391,essv2543057,essv2575321,essv2538754,essv2524305,essv2560880,essv2574713,essv2548075,essv2549647,essv2545995,essv2551242,essv2537752,essv2548919,essv2547657 M 157 45 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07347,NA11894,NA11919,NA11993,NA12044,NA12144,NA12776,NA18489,NA18501,NA18505,NA18508,NA18510,NA18511,NA18519,NA18522,NA18555,NA18558,NA18564,NA18576,NA18582,NA18593,NA18605,NA18861,NA18907,NA18916,NA18940,NA18942,NA18944,NA18947,NA18949,NA18956,NA18959,NA18964,NA18965,NA19102,NA19108,NA19129,NA19137,NA19138,NA19210,NA19225,NA19239,NA19257 nsv893482 9 78774405 78820260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556522 S 6533 0 1 "" MS22103 esv25309 9 78791920 78793262 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13464,esv13937 M 451 0 2 "" NA11894,NA12044 esv271658 9 78792160 78792499 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521184,essv2570544,essv2554249,essv2564466,essv2527209,essv2542764,essv2565030,essv2549439,essv2560015,essv2522272,essv2531046,essv2532672,essv2528747,essv2570049,essv2553168,essv2543589,essv2534116,essv2578179,essv2573225,essv2533517,essv2573950,essv2522578,essv2573348,essv2543208,essv2573330,essv2560405,essv2551261,essv2554664,essv2563445 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA10847,NA11894,NA12044,NA12287,NA12751,NA18522,NA18550,NA18558,NA18564,NA18570,NA18571,NA18573,NA18576,NA18579,NA18593,NA18605,NA18870,NA18916,NA18940,NA18942,NA18944,NA18951,NA18960,NA18964,NA18965,NA18969,NA19190,NA19257 nsv893483 9 78796827 78888653 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587006 S 6533 1 0 FOXB2 IS37986 nsv8529 9 78797157 78807453 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17965 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18980 esv271793 9 78801482 78801810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506106 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18523 esv1006945 9 78801694 78804454 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565070 S 3 1 0 "" HuRef nsv466423 9 78843777 78877636 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541971 S 1557 0 1 "" 1780862311_A nsv6572 9 78849280 78876154 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3726 S 9 1 0 "" NA12878 esv1149038 9 78891928 78891928 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066507 S 2 1 0 "" HuRef esv998113 9 78891928 78892009 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578149 S 3 0 1 "" HuRef esv1757397 9 78891959 78892041 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3897576 S 2 0 1 "" HuRef nsv6573 9 78958111 78971172 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3727 S 9 1 0 "" NA12878 dgv2391e1 9 78960218 78980364 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24034,essv23093,esv1282,essv18009,essv25072,essv17863 M 271 0 0 "" NA10857,NA12043,NA12873,NA12878,NA12892 esv24710 9 78960222 78967213 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17723 S 451 1 0 "" NA12878 nsv515154 9 78960312 78965792 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628024 S 1414 1 0 "" nsv442156 9 78960326 78967224 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv893484 9 78984573 79220649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566172 S 6533 0 1 VPS13A IS30597 nsv521364 9 79000709 79192280 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697974 S 2026 0 1 VPS13A esv2613215 9 79202400 79203918 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5390179 S 1 0 1 VPS13A NA18507 esv7342 9 79214362 79287522 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29783 S 1 0 0 GNA14,VPS13A SJK esv26092 9 79248883 79252939 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13149 S 451 0 1 GNA14 NA11894 esv2562696 9 79257146 79257945 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5354713 S 1 1 0 GNA14 NA18507 esv2463816 9 79279395 79280229 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5338390 S 1 1 0 GNA14 NA18507 esv271163 9 79279747 79279861 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523059,essv2540003,essv2551809,essv2532209,essv2562693,essv2527285,essv2556349,essv2575197,essv2560612,essv2524011,essv2574920 M 157 11 0 Samples from several populations that are part of the HapMap project. GNA14 NA11931,NA18489,NA18504,NA18505,NA18507,NA18522,NA18871,NA19102,NA19116,NA19129,NA19138 nsv831629 9 79303827 79469325 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447842 S 95 1 0 GNA14 nsv893485 9 79308061 79333919 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513651 S 6533 0 1 GNA14 SP55820 nsv893486 9 79314630 79375749 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565626 S 6533 0 1 GNA14 IS30487 esv21709 9 79421453 79423278 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10586 S 451 0 1 GNA14 NA12749 nsv893487 9 79438397 79523505 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587007 S 6533 1 0 GNA14 IS37986 esv271313 9 79554824 79555136 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512483,essv2496395,essv2494774,essv2494976,essv2506168,essv2501353,essv2504596,essv2506893,essv2506553,essv2499003,essv2510888,essv2497089 M 157 12 0 Samples from several populations that are part of the HapMap project. GNAQ NA18489,NA18510,NA18519,NA18520,NA18523,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19190 nsv893489 9 79561349 79674282 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584324 S 6533 1 0 GNAQ IS36973 dgv8253n71 9 79561349 79686588 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893488,nsv893490 M 6533 0 5 GNAQ IS30311,IS34805,IS35789,IS37293,MS19488 nsv893491 9 79579741 79779580 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553081 S 6533 0 1 GNAQ MS19721 nsv6574 9 79614908 79651993 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8615 S 9 0 1 GNAQ NA12156 nsv416999 9 79632138 79632795 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435577 M 24 GNAQ esv1620907 9 79699100 79699100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861891 S 2 1 0 GNAQ HuRef esv1370714 9 79699111 79699111 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011592 S 2 1 0 GNAQ HuRef nsv507519 9 79744154 79750154 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617794 S 4 1 0 GNAQ CHM nsv526255 9 79779580 79806346 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702527 S 2026 0 1 GNAQ nsv831630 9 79809287 79993075 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447843 S 95 0 1 GNAQ esv24162 9 79835322 79837531 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16988,esv20803 M 451 0 3 GNAQ NA07045,NA12156,NA12878 nsv831631 9 79865504 80034140 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447844 S 95 0 1 "" nsv893492 9 79879810 79953250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587008 S 6533 1 0 "" IS37986 esv270311 9 79894669 79895004 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540908,essv2577255,essv2548427,essv2544442,essv2540125,essv2562336,essv2574743,essv2560437 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11831,NA12043,NA12045,NA12414,NA18489,NA18909,NA19138,NA19190 esv267577 9 79908759 79909079 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518788 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv510194 9 80024759 80030759 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618315,nssv621358 M 4 0 2 "" CHM,NA15510 nsv831632 9 80081609 80232037 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447845 S 95 1 0 PSAT1 nsv6575 9 80094168 80120057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8616 S 9 1 0 PSAT1 NA12156 dgv1223n67 9 80121706 80122348 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824954,nsv824955 M 31 0 5 PSAT1 AK16,NA18949,NA18951,NA18972,NA18997 nsv821540 9 80121706 80122348 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420815 S 1 1 0 PSAT1 NA10851 nsv521626 9 80122335 80220582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698245 S 2026 0 1 PSAT1 nsv466425 9 80162588 80237711 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541972 S 1557 0 1 "" 1780862197_A esv270028 9 80223869 80224639 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514431 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 nsv515900 9 80237711 80247229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655945,nssv665195,nssv677934 M 2026 0 3 "" esv29932 9 80309848 80311081 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16568 S 451 0 1 "" NA19147 nsv893493 9 80352566 80471735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587009 S 6533 1 0 "" IS37986 esv1002194 9 80385161 80385161 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568709 S 3 1 0 "" HuRef esv1042067 9 80385162 80385162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292282 S 2 1 0 "" HuRef nsv416134 9 80385163 80385163 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434712 M 24 "" nsv521768 9 80449015 80461281 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694535 S 2026 1 0 "" esv2438534 9 80487354 80487748 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360383 S 1 1 0 "" NA18507 nsv893494 9 80584810 80724553 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587010 S 6533 1 0 "" IS37986 nsv824956 9 80592139 80592951 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425929 S 31 1 0 "" AK4 esv2475794 9 80593282 80595825 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278776 S 1 0 1 "" NA18507 nsv893495 9 80616009 80658849 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531231 S 6533 0 1 "" MS10381 dgv2392e1 9 80619129 80663904 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1241,essv12047,essv13216,essv8561 M 271 0 0 "" NA18503,NA19116,NA19120 nsv416915 9 80623132 80623132 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435493 M 24 "" nsv436615 9 80627200 80661390 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466541 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26230 9 80627767 80661030 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15436 S 451 0 1 "" NA18907 nsv517750 9 80628359 80658849 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653103,nssv685007 M 2026 0 2 "" nsv818707 9 80628359 80658849 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416654,nssv1416655 M 112 0 2 "" NA19116,NA19120 nsv442157 9 80628360 80658853 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515155 9 80628752 80658648 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628026 S 1414 0 1 "" esv271676 9 80638468 80638809 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546589,essv2523083,essv2568259,essv2531945,essv2577306,essv2570376,essv2550828,essv2525466,essv2552058,essv2547354,essv2577840,essv2553770,essv2544757,essv2523908,essv2553033,essv2542840,essv2540457,essv2561010,essv2539851,essv2549474,essv2519531,essv2572443,essv2542178,essv2562183,essv2539445,essv2527443,essv2522441,essv2573571,essv2571933,essv2526791,essv2575762,essv2568538,essv2545113,essv2535990,essv2549077,essv2532995,essv2554553,essv2563145 M 157 38 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA07051,NA07346,NA10847,NA11881,NA11931,NA11995,NA12006,NA12043,NA12044,NA12155,NA12156,NA12489,NA12717,NA12761,NA12763,NA18526,NA18537,NA18542,NA18550,NA18552,NA18562,NA18563,NA18564,NA18566,NA18609,NA18856,NA18909,NA18912,NA18952,NA18960,NA18964,NA18973,NA19005,NA19099,NA19147,NA19172 nsv831633 9 80714246 80900719 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447846 S 95 0 1 "" nsv824957 9 80715332 80716115 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433801 S 31 0 1 "" NA18526 esv1051002 9 80727008 80727008 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4291070 S 2 1 0 "" HuRef nsv824958 9 80734408 80734853 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436820 S 31 0 1 "" NA18542 esv25080 9 80785175 80785846 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14757 S 451 0 1 "" NA18861 esv267793 9 80785915 80786000 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519287,essv2516031,essv2514500,essv2516864,essv2515803,essv2515251,essv2518945,essv2518238,essv2513568 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11894,NA12873,NA12874,NA12892,NA18969,NA19238,NA19239,NA19240 esv273386 9 80785921 80786187 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581802,essv2582857,essv2584605 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19239 nsv524858 9 80841108 80841766 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700862 S 2026 0 1 "" nsv521127 9 80841108 80842320 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697804 S 2026 0 1 "" esv9328 9 80856032 80856978 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31769 S 1 0 0 "" SJK nsv893496 9 80865574 80989893 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587011 S 6533 1 0 "" IS37986 esv2459481 9 80914986 80916465 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345913 S 1 0 1 "" NA18507 esv2029030 9 80915380 80916110 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945337 S 1 0 1 "" NA18507 esv3387 9 80915535 80916081 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25828 S 1 0 1 Single Asian sample YH "" YH esv992411 9 80915581 80915901 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570638 S 3 0 1 "" HuRef nsv6577 9 80921136 80955331 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8617 S 9 1 0 "" NA12156 nsv520323 9 80961966 80963647 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697348 S 2026 1 0 "" nsv6578 9 81009823 81042828 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1788 S 9 1 0 "" NA18555 esv2120925 9 81078534 81078926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4801884 S 1 0 1 "" NA18507 nsv510195 9 81134301 81140301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621359 S 4 0 1 "" NA15510 nsv824959 9 81185640 81186429 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427648 S 31 0 1 "" AK8 dgv1224n67 9 81217935 81222894 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824960,nsv824961 M 31 0 3 "" AK20,AK6,NA18547 esv24843 9 81217994 81223222 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14453 S 451 0 1 "" NA15510 nsv516194 9 81222172 81222734 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660504,nssv686195,nssv684381,nssv678086,nssv666708 M 2026 0 5 "" nsv818708 9 81222172 81222734 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417544 S 112 0 1 "" NA18971 nsv831634 9 81235014 81394521 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447847 S 95 0 1 TLE4 nsv525185 9 81334184 81335927 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701263 S 2026 0 1 "" nsv528040 9 81363847 81366953 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704572 S 2026 1 0 "" nsv824962 9 81366672 81367328 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425931 S 31 1 0 "" AK4 esv268030 9 81486039 81486124 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514906 S 157 1 0 Samples from several populations that are part of the HapMap project. TLE4 NA12812 nsv893497 9 81492805 81706992 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587012 S 6533 1 0 TLE4 IS37986 esv272772 9 81610541 81610840 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579265 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv831635 9 81671634 81844042 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447848 S 95 1 0 "" nsv893498 9 81684247 81843886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584325 S 6533 1 0 "" IS36973 nsv6579 9 81756079 81789765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5163 S 9 1 0 "" NA19129 nsv820198 9 81765885 81768140 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419411 S 2 1 0 "" AK1 nsv516724 9 81778046 81792544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670459,nssv691594 M 2026 0 2 "" esv274323 9 81841387 81841472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581618 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv893499 9 81895061 82010698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587013 S 6533 1 0 "" IS37986 nsv824963 9 81964577 81966589 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429972 S 31 0 1 "" AK14 nsv831637 9 81979235 82125333 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447849 S 95 1 0 "" esv2186836 9 82034925 82035522 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4708810 S 1 0 1 "" NA18507 nsv510196 9 82058662 82064662 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624082,nssv622178,nssv621360 M 4 0 3 "" NA10860,NA15510,NA18994 nsv893500 9 82093386 82270189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572261 S 6533 0 1 "" IS32918 esv22423 9 82097434 82098927 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19248 S 451 0 1 "" NA18858 nsv524239 9 82153819 82155189 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700129 S 2026 0 1 "" nsv515156 9 82171920 82228904 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628027 S 1414 0 1 "" esv24964 9 82171988 82174894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17851 S 451 0 2 "" NA18858,NA19240 esv2422016 9 82172211 82174215 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083077,essv5017927,essv5078809,essv5049064,essv5049398,essv5066671,essv5115420,essv5031100,essv5145651,essv5145580,essv5111257,essv5077416,essv5029542,essv5092386,essv5106868,essv5034224,essv5138547,essv5073919,essv5053118,essv5078893,essv5069008,essv5099195,essv5067621,essv5083081,essv5074385,essv5041401,essv5107396,essv5104298,essv5020696,essv5010393,essv5139334,essv5007752,essv5004595,essv5134613,essv5128743,essv5002165,essv5007364,essv5081714,essv5076587,essv5055717,essv5045510,essv5111269,essv5067850,essv5028831,essv5041379,essv5071678,essv5116460,essv5072549,essv5090377,essv5132131,essv5135302,essv5044661,essv5107116,essv5151087,essv5115278,essv5078380,essv5084974,essv5039933,essv5106979,essv5161119,essv5035754,essv5123556,essv5121957,essv5041633,essv5079092,essv5140587,essv5061240,essv5099062,essv5027251,essv5006922,essv5135884,essv5003528,essv5154580,essv5118850,essv5019584,essv5083289,essv5141855,essv5078635,essv5129931,essv5034414,essv5064990,essv5113354,essv5058786,essv5085819,essv5024431,essv5097211,essv5048149,essv5127689,essv5118373,essv5129900,essv5021735,essv5035447 M 1184 0 92 "" NA18505,NA18853,NA18854,NA18858,NA18860,NA18862,NA19028,NA19093,NA19117,NA19119,NA19127,NA19160,NA19174,NA19176,NA19189,NA19197,NA19199,NA19207,NA19213,NA19236,NA19239,NA19240,NA19308,NA19310,NA19315,NA19327,NA19334,NA19346,NA19360,NA19371,NA19377,NA19384,NA19390,NA19399,NA19428,NA19435,NA19436,NA19438,NA19445,NA19448,NA19449,NA19456,NA19462,NA19470,NA19714,NA19835,NA19900,NA20290,NA20291,NA20343,NA21302,NA21303,NA21313,NA21333,NA21339,NA21352,NA21356,NA21359,NA21365,NA21366,NA21367,NA21368,NA21370,NA21414,NA21420,NA21434,NA21435,NA21440,NA21442,NA21447,NA21475,NA21476,NA21478,NA21480,NA21489,NA21490,NA21491,NA21494,NA21522,NA21529,NA21577,NA21582,NA21600,NA21617,NA21619,NA21635,NA21636,NA21678,NA21682,NA21686,NA21768,NA21825 nsv442158 9 82172211 82174215 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv893501 9 82216832 82270189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577106 S 6533 0 1 "" IS34358 nsv824965 9 82217312 82225150 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425932 S 31 1 0 "" AK4 esv4803 9 82261411 82261987 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27244 S 1 0 1 Single Asian sample YH "" YH esv5621 9 82261478 82261893 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28062 S 1 0 1 "" SJK nsv893502 9 82370087 82436134 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587014 S 6533 1 0 "" IS37986 esv259686 9 82377498 82377985 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398775,essv2399710,essv2400392 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA12828,NA18960 esv992199 9 82412774 82424077 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565034 S 3 0 1 "" HuRef nsv824966 9 82438452 82441686 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425933 S 31 1 0 "" AK4 nsv508553 9 82440965 82482260 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617372 S 4 0 1 "" CHM nsv526226 9 82510013 82513047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702492 S 2026 0 1 "" esv2242506 9 82545410 82545868 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4827578 S 1 0 1 "" NA18507 esv1158127 9 82545600 82545680 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3821760 S 2 0 1 "" HuRef nsv8530 9 82554344 82556133 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21477 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv821665 9 82557453 84097474 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421239 S 31 0 1 FAM75D1,FAM75D3,FAM75D4,FAM75D5,TLE1 nsv416255 9 82575094 82575165 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434833 M 24 "" esv27794 9 82576834 82577475 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11191 S 451 0 1 "" NA19099 nsv507520 9 82604786 82610786 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620450,nssv617795,nssv621945 M 4 3 0 "" CHM,NA10860,NA15510 esv22203 9 82616900 82621555 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12697 S 451 1 0 "" NA18858 nsv466426 9 82675406 82714047 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541973 S 1557 1 0 "" NINDS_195 nsv416576 9 82702793 82702793 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435154 M 24 "" nsv416441 9 82713536 82716638 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435019 M 24 "" dgv2393e1 9 82783156 82891940 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5317,esv280 M 271 0 0 "" NA18563 esv1506236 9 82790414 82790501 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072245 S 2 0 1 "" HuRef esv2345557 9 82820060 82820784 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916819 S 1 0 1 "" NA18507 esv6643 9 82820201 82820563 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29084 S 1 0 1 "" SJK esv1726963 9 82820272 82820585 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4267893 S 2 0 1 "" HuRef nsv8531 9 82838046 82840565 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18050,nssv18465,nssv21374,nssv18166,nssv19948 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18517,NA18537,NA18552,NA18853,NA19144 nsv893503 9 82843534 82908731 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587015 S 6533 1 0 "" IS37986 esv22890 9 82931997 82932669 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20796 S 451 0 1 "" NA11894 nsv466427 9 82985987 83055038 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541974 S 1557 0 1 "" 1780846029_A esv273268 9 83049456 83049650 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580539,essv2579398 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271390 9 83049459 83049786 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576722,essv2577752,essv2569230,essv2561702,essv2566963,essv2562464,essv2539363,essv2529581,essv2538498,essv2560542,essv2574857,essv2572708,essv2571337,essv2574303 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA12154,NA12761,NA18508,NA18523,NA18853,NA18909,NA18912,NA19093,NA19108,NA19116,NA19138,NA19143,NA19238,NA19240 nsv508554 9 83090972 83161491 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618856 S 4 0 1 "" NA10860 esv2082860 9 83107328 83107759 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4993973 S 1 0 1 "" NA18507 esv2461841 9 83107522 83107579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5215747 S 1 0 1 "" NA18507 nsv893504 9 83110758 83174794 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584326 S 6533 1 0 "" IS36973 nsv6580 9 83124055 83164314 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8618 S 9 0 1 "" NA12156 nsv893505 9 83140370 83295009 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520409 S 6533 1 0 "" SP50839 nsv893506 9 83153344 83198453 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587016 S 6533 1 0 "" IS37986 esv2438908 9 83155492 83162686 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383573 S 1 0 1 "" NA18507 esv998454 9 83156181 83161315 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564484 S 3 0 1 "" HuRef esv2654768 9 83157293 83161370 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291162 S 1 0 1 "" NA18507 esv1955970 9 83157554 83160677 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830023 S 1 0 1 "" NA18507 esv3266 9 83157701 83160574 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25707 S 1 0 1 Single Asian sample YH "" YH nsv499731 9 83157737 83160512 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586113 S 9 0 1 "" esv22946 9 83157765 83160467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10536 S 451 0 6 "" NA06985,NA11995,NA12156,NA18517,NA19147,NA19225 nsv6581 9 83193269 83222668 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10673 S 9 1 0 "" NA18956 nsv522430 9 83196041 83199317 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705784 S 2026 0 1 "" nsv520040 9 83196944 83197684 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697191 S 2026 0 1 "" nsv528241 9 83216332 83217806 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704803 S 2026 1 0 "" nsv831638 9 83342879 83512504 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447852,nssv1447853 M 95 0 2 TLE1 nsv8532 9 83400126 83402420 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18809 S 31 0 1 Samples from several populations that are part of the HapMap project. TLE1 NA19173 nsv521784 9 83405910 83412438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694553 S 2026 1 0 TLE1 esv2456414 9 83488930 83490387 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169708 S 1 0 1 TLE1 NA18507 nsv6582 9 83498306 83543072 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6285,nssv1789 M 9 0 2 "" NA12156,NA18555 nsv436608 9 83511340 83517907 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466542 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv2627852 9 83512050 83516917 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280233 S 1 0 1 "" NA18507 esv995869 9 83512531 83517458 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565651 S 3 0 1 "" HuRef nsv8533 9 83513083 83516865 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18546,nssv17576,nssv19978 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10863,NA19007,NA19144 esv2510885 9 83513540 83517423 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253400 S 1 0 1 "" NA18507 nsv525608 9 83513720 83517030 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701753 S 2026 0 1 "" esv2282572 9 83513995 83516950 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758008 S 1 0 1 "" NA18507 esv4598 9 83514088 83516955 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27039 S 1 0 1 Single Asian sample YH "" YH nsv512105 9 83514108 83516741 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624662 S 1 0 1 "" 1 esv6234 9 83514178 83516744 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28675 S 1 0 1 "" SJK nsv6583 9 83560267 83592080 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5164 S 9 1 0 "" NA19129 esv998832 9 83608661 83617254 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564213 S 3 0 1 "" HuRef esv996328 9 83611308 83612629 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587145 S 3 0 1 "" HuRef nsv522950 9 83645492 83647809 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698617 S 2026 0 1 "" esv5314 9 83666852 83667400 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27755 S 1 0 1 Single Asian sample YH "" YH nsv415865 9 83666907 83667238 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434443 M 24 "" esv3424 9 83668501 83668952 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25865 S 1 0 1 Single Asian sample YH "" YH nsv831639 9 83691368 83840971 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447854 S 95 0 1 FAM75D1,FAM75D3,FAM75D4,FAM75D5 nsv508555 9 83697519 83769848 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622613,nssv618857 M 4 0 2 FAM75D3,FAM75D4,FAM75D5 NA10860,NA18994 nsv8534 9 83709530 83716433 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17462 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07029 esv23543 9 83717389 83756427 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17765 S 451 3 7 FAM75D3,FAM75D4,FAM75D5 NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12776,NA18508,NA18523,NA18861 nsv8536 9 83720824 83754119 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17492 S 31 0 1 Samples from several populations that are part of the HapMap project. FAM75D3,FAM75D4,FAM75D5 NA07029 esv2193928 9 83721593 83736880 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908548 S 1 0 1 FAM75D4,FAM75D5 NA18507 nsv6584 9 83737691 83796272 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv812 S 9 0 1 FAM75D1,FAM75D3,FAM75D4 NA19240 nsv8537 9 83792349 83801168 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17522 S 31 0 1 Samples from several populations that are part of the HapMap project. FAM75D1 NA07029 esv29585 9 83880585 83881811 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10170 S 451 0 1 "" NA07037 nsv831640 9 83885778 84070355 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447855 S 95 0 1 "" nsv824967 9 83924503 83929263 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421879 S 31 0 1 "" NA18997 nsv893507 9 83989357 84287471 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1556436,nssv1600675 M 6533 0 2 "" IS41909,MS22008 nsv8538 9 84075229 84077482 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20008 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19144 dgv8254n71 9 84144412 84307240 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893510,nsv893509,nsv893508 M 6533 0 11 "" IS30292,IS35227,IS36992,MS14268,MS19303,MS19587,MS19721,MS20630,MS21059,MS21249,MS21738 esv4541 9 84223632 84224215 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26982 S 1 0 1 Single Asian sample YH "" YH esv1004824 9 84223669 84224010 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572511 S 3 0 1 "" HuRef esv1145044 9 84315131 84315131 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082831 S 2 1 0 "" HuRef esv1243425 9 84315190 84315263 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3687974 S 2 0 1 "" HuRef nsv831641 9 84335381 84499409 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447856 S 95 1 0 "" nsv416042 9 84472338 84472391 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434620 M 24 "" nsv415973 9 84472619 84472672 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434551 M 24 "" esv1002297 9 84541270 84550065 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565082 S 3 0 1 "" HuRef nsv515920 9 84562724 84567047 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672479,nssv688877,nssv655545,nssv657605,nssv701815,nssv681963,nssv665313 M 2026 0 7 "" nsv818709 9 84562724 84567047 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415771 S 112 0 1 "" NA12874 nsv442159 9 84566389 84574064 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv518664 9 84581506 84589743 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696114 S 2026 0 1 "" nsv525737 9 84680008 84683506 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701902 S 2026 0 1 "" nsv893511 9 84685788 85022947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587017 S 6533 1 0 RASEF IS37986 esv2603527 9 84736089 84737558 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300887 S 1 0 1 "" NA18507 esv1952405 9 84736507 84737008 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4947927 S 1 0 1 "" NA18507 esv5224 9 84736618 84736893 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27665 S 1 0 1 Single Asian sample YH "" YH nsv415968 9 84736692 84736822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434546 M 24 "" nsv6585 9 84756479 84801309 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8619 S 9 0 1 RASEF NA12156 nsv436616 9 84854348 84860978 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466543 S 2 0 1 Samples from several populations that are part of the HapMap project. RASEF NA18505 nsv831642 9 84869245 85007158 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447857 S 95 1 0 "" nsv831643 9 84869251 84988810 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447859,nssv1447858,nssv1447863,nssv1447860,nssv1447864,nssv1447861 M 95 0 6 "" esv269968 9 84874821 84875118 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2532357,essv2539137,essv2572847 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18519,NA19143 esv259837 9 84928268 84928718 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396770,essv2400333,essv2396271,essv2397619,essv2397634,essv2397791,essv2395024,essv2399352,essv2395700,essv2400932,essv2398418,essv2395547,essv2398944,essv2399134,essv2400005,essv2395684,essv2398125,essv2397251,essv2397056 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11881,NA12716,NA18489,NA18502,NA18505,NA18519,NA18522,NA18532,NA18547,NA18552,NA18593,NA18603,NA18609,NA18940,NA19116,NA19172,NA19225,NA19239 esv259437 9 84928270 84928673 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393974 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19239 nsv510197 9 84953434 84959434 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624083 S 4 0 1 "" NA18994 esv998065 9 84963387 84963387 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577246 S 3 1 0 "" HuRef esv1550653 9 84963485 84963485 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722656 S 2 1 0 "" HuRef nsv818710 9 85024132 85024928 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416769 S 112 0 1 "" NA19159 esv259741 9 85024893 85025193 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394788,essv2396722,essv2396247,essv2395583,essv2397813,essv2396130,essv2395083,essv2398801,essv2398955,essv2395314,essv2395877,essv2398147,essv2396977,essv2398291,essv2396361 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11831,NA12006,NA18501,NA18505,NA18523,NA18571,NA18582,NA18603,NA18916,NA18945,NA18949,NA18973,NA19093,NA19138 esv7863 9 85025075 85025163 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30304 S 1 1 0 "" SJK esv2365047 9 85035782 85036188 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945931 S 1 0 1 "" NA18507 esv1003700 9 85035924 85035983 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583669 S 3 0 1 "" HuRef esv1697678 9 85035987 85036047 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3837877 S 2 0 1 "" HuRef nsv6586 9 85059648 85104632 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8620 S 9 0 1 FRMD3 NA12156 nsv6588 9 85065259 85099152 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5165 S 9 1 0 FRMD3 NA19129 esv1005171 9 85120990 85121033 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565761 S 3 1 0 FRMD3 HuRef nsv893512 9 85212035 85513129 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587018 S 6533 1 0 C9orf103,FRMD3,UBQLN1 IS37986 nsv6589 9 85212362 85246246 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8621 S 9 1 0 FRMD3 NA12156 nsv416790 9 85350811 85351625 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435368 M 24 "" nsv516587 9 85415939 85445585 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669398,nssv661508 M 2026 0 2 C9orf103 nsv512991 9 85418385 85419406 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625647 S 1 1 0 "" 1 nsv893513 9 85488452 85623279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520002 S 6533 1 0 GKAP1,UBQLN1 SP50634 nsv469859 9 85587972 85777777 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649880 M 265 0 0 Samples from several populations that are part of the HapMap project. C9orf64,GKAP1,HNRNPK,KIF27,MIR7-1 esv7015 9 85588716 85589114 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29456 S 1 0 1 GKAP1 SJK dgv2394e1 9 85603844 85793422 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv333,essv17711 M 271 0 0 C9orf64,GKAP1,HNRNPK,KIF27,MIR7-1,RMI1 NA12872 nsv6590 9 85625423 85670262 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8622 S 9 0 1 KIF27 NA12156 nsv8539 9 85636397 85639242 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20191 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19240 nsv8540 9 85648407 85660189 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16361 S 31 1 0 Samples from several populations that are part of the HapMap project. KIF27 NA12872 nsv6591 9 85648614 85683130 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2813 S 9 1 0 KIF27 NA18555 esv1179518 9 85652919 85652919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982941 S 2 1 0 KIF27 HuRef nsv8541 9 85659543 85783578 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16391 S 31 1 0 Samples from several populations that are part of the HapMap project. C9orf64,HNRNPK,KIF27,MIR7-1 NA12872 nsv438108 9 85678406 85732026 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470105 S 269 0 1 Samples from several populations that are part of the HapMap project. KIF27 NA12872 nsv436717 9 85701736 87641082 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466544 S 2 0 0 Samples from several populations that are part of the HapMap project. AGTPBP1,C9orf64,HNRNPK,KIF27,LOC389765,MIR7-1,NTRK2,RMI1,SLC28A3 NA18505 nsv442559 9 85704275 85707363 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 KIF27 nsv831644 9 85724130 85894215 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447865 S 95 1 0 C9orf64,HNRNPK,KIF27,MIR7-1,RMI1 nsv893514 9 85773980 85868737 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584327 S 6533 1 0 HNRNPK,MIR7-1,RMI1 IS36973 nsv824968 9 85822035 85824975 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422755 S 31 0 1 "" NA18552 nsv893515 9 85883732 86024539 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587019 S 6533 1 0 "" IS37986 nsv8542 9 85939120 86264730 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17995,nssv18917,nssv17606,nssv18495 M 31 0 4 Samples from several populations that are part of the HapMap project. SLC28A3 NA18537,NA18563,NA18980,NA19007 esv269722 9 85976304 85976652 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511372,essv2512671,essv2507188,essv2507303,essv2505594,essv2499545 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA18570,NA18577,NA18870,NA18912,NA19005 nsv893516 9 85986223 86026679 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584328 S 6533 1 0 "" IS36973 esv34058 9 86024773 86084502 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 SLC28A3 nsv893517 9 86045679 86076717 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579084 S 6533 0 1 "" IS35015 nsv893518 9 86045679 86092811 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563377,nssv1597075,nssv1530110 M 6533 0 3 SLC28A3 IS40729,MS10203,MS25976 dgv488n21 9 86047253 86056856 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv525533,nsv515888 M 2026 0 4 "" nsv525150 9 86059893 86060628 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701220 S 2026 0 1 "" nsv516025 9 86059945 86070313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674670,nssv668747,nssv661552,nssv679347,nssv697797,nssv701618,nssv663770,nssv689656,nssv687711,nssv654978,nssv665789 M 2026 0 11 "" nsv893519 9 86127135 86181045 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587020 S 6533 1 0 SLC28A3 IS37986 nsv520182 9 86203640 86296869 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697267 S 2026 1 0 "" dgv8255n71 9 86296869 86398239 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893521,nsv893520 M 6533 0 4 "" IS34779,IS34996,IS38207,MS23495 nsv524707 9 86319202 86352181 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700690 S 2026 0 1 "" dgv489n21 9 86319202 86369043 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521509,nsv517882 M 2026 2 0 "" esv2513521 9 86325528 86326865 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389558 S 1 0 0 "" NA18507 nsv893522 9 86333171 86393607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552196 S 6533 0 1 "" MS19277 esv22914 9 86368070 86372164 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14256 S 451 0 2 "" NA18907,NA19190 nsv466429 9 86429950 86465715 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541976 S 1557 1 0 "" NINDS_196 nsv520969 9 86429950 86465715 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678959,nssv681496 M 2026 2 0 "" esv2434739 9 86534673 86536281 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341439 S 1 0 1 NTRK2 NA18507 esv2214442 9 86535011 86535703 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4517211 S 1 0 1 NTRK2 NA18507 esv1009365 9 86535180 86535494 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583173 S 3 0 1 NTRK2 HuRef esv2424316 9 86542152 86543670 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316219 S 1 0 1 NTRK2 NA18507 esv1919120 9 86542232 86543332 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4671700 S 1 0 1 NTRK2 NA18507 esv23628 9 86542351 86543136 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19550 S 451 0 2 NTRK2 NA19099,NA19129 esv267573 9 86587696 86588033 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494534,essv2507477,essv2495810 M 157 3 0 Samples from several populations that are part of the HapMap project. NTRK2 NA07000,NA18550,NA18638 esv4028 9 86693647 86694102 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26469 S 1 0 1 Single Asian sample YH NTRK2 YH esv7446 9 86693695 86694047 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29887 S 1 0 1 NTRK2 SJK esv2533224 9 86695402 86696394 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196425 S 1 1 0 NTRK2 NA18507 esv273858 9 86696017 86696335 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581720,essv2583271,essv2583977,essv2583577 M 7 4 0 Samples from several populations that are part of the HapMap project. NTRK2 NA12878,NA12892,NA19238,NA19240 esv269202 9 86696017 86696355 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2550827,essv2520287,essv2576133,essv2564142,essv2557305,essv2556954,essv2562732,essv2569211,essv2537017,essv2538998,essv2527202,essv2561571,essv2544615,essv2519692,essv2532740,essv2569993,essv2541973,essv2556370,essv2528127,essv2562236,essv2534166,essv2555230,essv2530026,essv2573315,essv2575111,essv2526508,essv2560813,essv2568633,essv2545816,essv2574093 M 157 30 0 Samples from several populations that are part of the HapMap project. NTRK2 NA12155,NA12716,NA12814,NA12828,NA18499,NA18501,NA18507,NA18508,NA18517,NA18519,NA18522,NA18523,NA18526,NA18566,NA18576,NA18593,NA18856,NA18871,NA18907,NA18909,NA18916,NA18943,NA18949,NA18969,NA19102,NA19114,NA19137,NA19147,NA19239,NA19240 esv994018 9 86808073 86808675 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586508 S 3 1 0 NTRK2 HuRef esv23418 9 86808124 86808675 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11155 S 451 0 15 NTRK2 NA07037,NA07045,NA11995,NA12006,NA12287,NA12414,NA12828,NA18508,NA18858,NA18909,NA19099,NA19108,NA19129,NA19147,NA19225 esv2296664 9 86831809 86832227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646583 S 1 0 1 "" NA18507 nsv516928 9 86916243 86925405 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692480,nssv685174,nssv696746,nssv676097,nssv662915,nssv655018 M 2026 6 0 "" esv29070 9 86964976 86966026 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21082 S 451 0 6 "" NA11995,NA12006,NA12414,NA18861,NA19099,NA19225 esv989470 9 86965005 86965975 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566498 S 3 0 1 "" HuRef esv998656 9 86965026 86966026 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586141 S 3 0 1 "" HuRef esv1004665 9 86965097 86965746 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587042 S 3 0 1 "" HuRef esv1582197 9 86965117 86966088 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3709988 S 2 0 1 "" HuRef nsv893523 9 86978480 87318258 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587021 S 6533 1 0 "" IS37986 nsv6592 9 86980533 87001461 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8623 S 9 0 1 "" NA12156 nsv524286 9 86989002 86997333 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700186 S 2026 1 0 "" esv2519443 9 87090562 87092207 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5270892 S 1 0 1 "" NA18507 esv2136409 9 87091049 87091740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608500 S 1 0 1 "" NA18507 esv3374 9 87091164 87091675 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25815 S 1 0 1 Single Asian sample YH "" YH nsv416061 9 87091226 87091532 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434639 M 24 "" esv7073 9 87091228 87091531 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29514 S 1 0 1 "" SJK esv992149 9 87091228 87091534 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583048 S 3 0 1 "" HuRef esv1039711 9 87091236 87091543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992990 S 2 0 1 "" HuRef nsv521920 9 87107278 87108348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694690 S 2026 0 1 "" nsv893524 9 87165386 87569414 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501475 S 6533 0 1 AGTPBP1 SP50977 esv25144 9 87208205 87208865 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11976 S 451 0 1 "" NA11894 esv269336 9 87248896 87248981 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515158 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12812 esv21859 9 87302891 87319074 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16515 S 451 1 0 "" NA12156 dgv2395e1 9 87313974 87468257 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv366,essv11447 M 271 0 0 AGTPBP1 NA18857 nsv893525 9 87339393 87573002 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587022 S 6533 1 0 AGTPBP1 IS37986 nsv893526 9 87343047 87497947 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584329 S 6533 1 0 AGTPBP1 IS36973 dgv8256n71 9 87348366 87434408 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893528,nsv893527 M 6533 0 2 AGTPBP1 IS31729,IS37393 nsv524134 9 87348366 87649884 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700012 S 2026 0 1 AGTPBP1,LOC389765 dgv8257n71 9 87354033 87506706 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893529,nsv893531,nsv893530 M 6533 0 3 AGTPBP1 IS31137,IS33533,IS41317 nsv893532 9 87375075 87432773 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514448 S 6533 0 1 AGTPBP1 SP56004 nsv893533 9 87381004 87547315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592566 S 6533 0 1 AGTPBP1 IS39243 nsv6593 9 87390564 87416802 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8624 S 9 1 0 AGTPBP1 NA12156 nsv831645 9 87392332 87570805 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447866 S 95 0 1 AGTPBP1 nsv893534 9 87407112 87485697 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504698 S 6533 0 1 AGTPBP1 SP52708 nsv525362 9 87489280 87490561 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701481 S 2026 0 1 AGTPBP1 nsv893535 9 87499826 87562808 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515497 S 6533 1 0 AGTPBP1 SP56207 esv6066 9 87517090 87517174 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28507 S 1 1 0 AGTPBP1 SJK esv2614568 9 87563159 87644040 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376135 S 1 0 1 LOC389765 NA18507 nsv831646 9 87565144 87751306 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447867 S 95 0 1 LOC389765,NAA35 esv2529219 9 87614716 87617497 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5381699 S 1 0 1 LOC389765 NA18507 esv2353948 9 87615767 87617584 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4978940 S 1 0 1 LOC389765 NA18507 esv22072 9 87663274 87666070 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18583 S 451 0 3 "" NA18861,NA18907,NA19129 nsv824969 9 87681646 87691294 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425640 S 31 1 0 "" NA18547 esv2428745 9 87710293 87711860 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392984 S 1 0 1 "" NA18507 esv2412539 9 87711217 87711827 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821380 S 1 0 1 "" NA18507 nsv519890 9 87774834 87787082 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659321,nssv686125 M 2026 0 2 NAA35 nsv819703 9 87858059 87858287 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418895 S 2 1 0 GOLM1 AK1 esv2622889 9 87858216 87858740 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258934 S 1 1 0 GOLM1 NA18507 nsv510198 9 87858235 87864235 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622179 S 4 0 1 GOLM1 NA10860 nsv6594 9 87887379 87922747 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv813 S 9 1 0 GOLM1 NA19240 nsv893536 9 87900665 88256149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587023 S 6533 1 0 C9orf153,GOLM1,ISCA1,ZCCHC6 IS37986 esv2641966 9 87911871 87914927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350465 S 1 0 1 "" NA18507 nsv820713 9 87912050 87914603 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420816 S 1 0 1 "" NA10851 esv28099 9 87912086 87914603 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18362 S 451 0 20 "" NA11894,NA11995,NA12004,NA12006,NA12239,NA12414,NA12749,NA12828,NA18508,NA18517,NA18523,NA18858,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 esv1119650 9 87912453 87913468 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3619969 S 2 0 1 "" HuRef esv1707839 9 87913502 87914111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838989 S 2 0 1 "" HuRef nsv6595 9 87962599 87975716 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2814 S 9 1 0 "" NA18555 nsv893537 9 88003499 88067267 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600416 S 6533 0 1 C9orf153 IS41881 nsv893538 9 88109273 88225574 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584330 S 6533 1 0 ZCCHC6 IS36973 nsv518696 9 88125208 88142133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696147 S 2026 0 1 ZCCHC6 nsv893539 9 88152828 88229203 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600809 S 6533 0 1 ZCCHC6 IS41926 esv34148 9 88173818 88570787 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" esv1005962 9 88210836 88214273 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565456 S 3 1 0 "" HuRef nsv416011 9 88298127 88298275 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434589 M 24 "" nsv415982 9 88298127 88304582 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434560 M 24 "" nsv6596 9 88316360 88352016 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8625 S 9 0 1 "" NA12156 esv1001947 9 88337595 88347365 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565320 S 3 0 1 "" HuRef nsv511418 9 88339149 88346886 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626027 S 1 0 1 "" 1 esv2558761 9 88343681 88346331 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326096 S 1 0 1 "" NA18507 nsv512106 9 88344192 88346099 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624663 S 1 0 1 "" 1 esv2492664 9 88344236 88346540 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277841 S 1 0 1 "" NA18507 esv2783 9 88344251 88345900 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25224 S 1 0 1 Single Asian sample YH "" YH esv2118521 9 88344280 88345833 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822882 S 1 0 1 "" NA18507 esv6887 9 88344326 88345762 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29328 S 1 0 1 "" SJK esv6565 9 88344348 88345664 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29006 S 1 0 0 "" SJK esv27235 9 88344772 88345596 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14806 S 451 13 0 "" NA11894,NA11931,NA12006,NA12044,NA12287,NA12749,NA12776,NA18508,NA18517,NA18523,NA18858,NA18861,NA19114 esv990193 9 88344772 88345596 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586468 S 3 1 0 "" HuRef nsv820986 9 88344772 88345596 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420817 S 1 0 1 "" NA10851 esv2578940 9 88344891 88346270 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5346088 S 1 0 0 "" NA18507 esv8851 9 88345743 88345948 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31292 S 1 0 0 "" SJK nsv893540 9 88358520 88429956 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587024 S 6533 1 0 "" IS37986 nsv893541 9 88367984 88494823 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1595171 S 6533 1 0 "" IS40145 nsv519025 9 88376795 88378110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696494 S 2026 0 1 "" nsv824970 9 88487883 88491953 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436821 S 31 0 1 "" NA18542 esv273361 9 88494212 88494442 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583184,essv2584265,essv2584408,essv2583280 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19238,NA19239,NA19240 nsv517337 9 88495251 88495406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693811,nssv681924,nssv651763,nssv686855,nssv664542,nssv669366,nssv664964,nssv680809 M 2026 0 8 "" esv273247 9 88579917 88580164 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584462,essv2583744 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv522077 9 88609667 88611989 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694849 S 2026 0 1 "" nsv515532 9 88637820 88643667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673700,nssv663843 M 2026 0 2 "" nsv893542 9 88690894 88769066 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587025 S 6533 1 0 GAS1 IS37986 esv29661 9 88750566 88752016 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16142 S 451 0 1 GAS1 NA07045 nsv6597 9 88769279 88803752 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2815 S 9 1 0 "" NA18555 esv24034 9 88777390 88778798 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10011 S 451 0 3 "" NA11995,NA12006,NA18907 nsv509304 9 88796583 88805721 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620923 S 4 1 0 "" NA15510 esv2233205 9 88799988 88800344 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4973068 S 1 0 1 "" NA18507 esv4644 9 88800003 88800253 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27085 S 1 0 1 Single Asian sample YH "" YH esv994498 9 88803710 88803996 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565444 S 3 1 0 "" HuRef esv1694845 9 88803752 88803752 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012665 S 2 1 0 "" HuRef esv275413 9 88827951 88833629 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585898 S 1250 0 1 LOC440173 nsv466430 9 88859825 88967317 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541977 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf170,LOC494127 HGDP00955 dgv8258n71 9 88912145 88984425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893544,nsv893543 M 6533 0 2 C9orf170 IS32891,MS21795 esv26342 9 88947996 88949263 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16228 S 451 1 0 "" NA11894 esv2516592 9 88988492 88989955 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288549 S 1 0 1 "" NA18507 esv2332008 9 88988737 88989413 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4936141 S 1 0 1 "" NA18507 esv4602 9 88988883 88989324 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27043 S 1 0 1 Single Asian sample YH "" YH esv8393 9 88988909 88989232 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30834 S 1 0 1 "" SJK esv994989 9 88988915 88989228 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567154 S 3 0 1 "" HuRef esv1147937 9 88988922 88989236 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3979686 S 2 0 1 "" HuRef nsv893545 9 89064752 89194149 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587026 S 6533 1 0 "" IS37986 esv268261 9 89081469 89087552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556640,essv2521842,essv2550857,essv2576308,essv2530698,essv2547661,essv2563401 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA10847,NA11994,NA12144,NA12155,NA12814,NA12873 esv24349 9 89112460 89113240 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11045 S 451 5 0 "" NA12156,NA18909,NA19129,NA19147,NA19225 esv2587731 9 89135301 89136398 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355404 S 1 1 0 "" NA18507 esv270866 9 89135799 89136171 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511870,essv2504208,essv2494849,essv2506010,essv2503356,essv2494630,essv2497811,essv2499941,essv2500608,essv2500145,essv2512668,essv2508633,essv2509976,essv2499294,essv2512925,essv2505293,essv2498506,essv2494021,essv2507312,essv2495738,essv2503082,essv2497397,essv2503711,essv2502642,essv2501417,essv2506852,essv2506683,essv2498686,essv2496920,essv2495814,essv2499589 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA18499,NA18505,NA18519,NA18523,NA18542,NA18550,NA18555,NA18562,NA18571,NA18573,NA18577,NA18592,NA18593,NA18605,NA18609,NA18853,NA18858,NA18871,NA18912,NA18916,NA18943,NA18959,NA18960,NA18965,NA19093,NA19102,NA19108,NA19138,NA19190 esv6174 9 89198137 89198246 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28615 S 1 1 0 "" SJK nsv416816 9 89207338 89207338 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435394 M 24 "" nsv524997 9 89208253 89208940 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701028 S 2026 0 1 "" dgv2396e1 9 89208547 89614800 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv297,essv11619 M 271 0 0 CTSL1,CTSL3,DAPK1 NA19154 nsv893546 9 89226039 89415234 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587027 S 6533 1 0 DAPK1 IS37986 esv2540532 9 89254540 89256315 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5299499 S 1 0 1 "" NA18507 nsv8543 9 89255037 89257623 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21507 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19132 nsv824971 9 89255438 89256157 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425934,nssv1427840 M 31 0 2 "" AK4,NA18968 esv21551 9 89255546 89256135 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13240 S 451 0 1 "" NA19114 nsv416811 9 89263779 89271572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435389 M 24 "" nsv8544 9 89281913 89292031 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23028 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19221 esv21629 9 89321941 89322781 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11862 S 451 0 1 DAPK1 NA12239 esv22121 9 89367051 89368566 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19344 S 451 3 0 DAPK1 NA11995,NA12749,NA12828 nsv8545 9 89453163 89455381 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20532 S 31 1 0 Samples from several populations that are part of the HapMap project. DAPK1 NA18502 esv28714 9 89455666 89458140 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17887 S 451 0 1 DAPK1 NA11993 esv1463209 9 89456978 89457176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4030410 S 2 0 1 DAPK1 HuRef esv1345777 9 89457325 89457490 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4235322 S 2 0 1 DAPK1 HuRef esv1009206 9 89457574 89457903 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582419 S 3 0 1 DAPK1 HuRef esv1024641 9 89457718 89457850 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691912 S 2 0 1 DAPK1 HuRef nsv893547 9 89460147 89605040 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587028 S 6533 1 0 CTSL1,CTSL3,DAPK1 IS37986 nsv893548 9 89479756 89555733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584331 S 6533 1 0 CTSL1,DAPK1 IS36973 nsv893549 9 89560331 89610458 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553238 S 6533 1 0 CTSL3 MS19843 esv1609136 9 89563248 89563667 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3863552 S 2 0 1 "" HuRef esv1688880 9 89564663 89564855 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4107799 S 2 0 1 "" HuRef esv268891 9 89564836 89564921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515677,essv2514420,essv2517804 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12815,NA12874,NA12878 esv273341 9 89564836 89564921 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581443 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 esv1782604 9 89571172 89571172 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203654 S 2 1 0 "" HuRef nsv8548 9 89575854 89579020 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17636,nssv17854 M 31 2 0 Samples from several populations that are part of the HapMap project. CTSL3 NA10839,NA19007 nsv518978 9 89645506 89659663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694294 S 2026 0 1 CTSL1P8 nsv893550 9 89645506 89704302 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1594513 S 6533 1 0 C9orf79,CTSL1P8,LOC392364 IS39916 esv992074 9 89672635 89672635 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577250 S 3 1 0 "" HuRef esv2652266 9 89673882 89674684 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5248241 S 1 1 0 "" NA18507 esv271841 9 89676410 89676495 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513927 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv893551 9 89688030 89714365 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501988 S 6533 0 1 C9orf79 SP50963 esv272406 9 89699301 89699448 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580863 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271668 9 89699302 89699489 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512425,essv2509873,essv2497810,essv2507657,essv2508407,essv2496069,essv2507125,essv2511130,essv2498693,essv2512147 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA18508,NA18555,NA18576,NA18582,NA18603,NA18870,NA18944,NA19138,NA19238 nsv6599 9 89699882 89746348 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv814,nssv815,nssv10674,nssv6286,nssv1790 M 9 4 0 FAM75C1 NA12156,NA18555,NA18956,NA19240 nsv6600 9 89704720 89727276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5166 S 9 0 1 FAM75C1 NA19129 nsv509305 9 89705485 89748261 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623560 S 4 1 0 FAM75C1 NA18994 esv28781 9 89716637 89723579 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14255 S 451 3 1 FAM75C1 NA12156,NA15510,NA18858,NA19240 nsv499411 9 89720160 89723736 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586114 S 9 0 1 FAM75C1 esv8473 9 89766588 89766672 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30914 S 1 1 0 "" SJK nsv6601 9 89792164 89805295 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8627 S 9 0 1 "" NA12156 nsv510199 9 89860602 89866602 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621361 S 4 0 1 "" NA15510 esv33467 9 89871765 89879081 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99566 S 51 1 0 "" 22335 esv25922 9 89882128 89994956 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10515,esv16857,esv10396,esv13598 M 451 5 6 FAM75C2 NA07045,NA12044,NA12156,NA12239,NA15510,NA18517,NA18858,NA18861,NA18909,NA19129,NA19240 nsv509306 9 89890246 89973437 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619550 S 4 1 0 FAM75C2 NA10860 esv2534201 9 89904277 89905776 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206040 S 1 0 1 "" NA18507 esv2217872 9 89905086 89905571 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909823 S 1 0 1 "" NA18507 nsv521551 9 89911266 89946250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698166 S 2026 0 1 FAM75C2 dgv8259n71 9 89935885 89992434 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893552,nsv893553 M 6533 2 0 FAM75C2 IS36973,IS37986 esv1100105 9 89939832 89943321 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347713 S 2 0 1 "" HuRef esv2498975 9 89941258 89946266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5220125 S 1 0 1 "" NA18507 nsv6602 9 89944813 89976040 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv816 S 9 1 0 "" NA19240 nsv893554 9 89986498 90030886 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1541760 S 6533 1 0 "" MS15485 nsv6603 9 89995575 90023518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5167,nssv1791,nssv9472 M 9 3 0 "" NA18517,NA18555,NA19129 esv995431 9 90000790 90022571 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564324 S 3 1 0 "" HuRef nsv508556 9 90001547 90018210 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620027 S 4 0 1 "" NA15510 nsv509307 9 90001547 90018210 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619551,nssv623561 M 4 2 0 "" NA10860,NA18994 esv1530968 9 90004736 90004736 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363295 S 2 1 0 "" HuRef esv24401 9 90006747 90011289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13472 S 451 0 1 "" NA15510 nsv515157 9 90006840 90009568 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627084 S 1414 0 0 "" nsv517482 9 90007008 90011241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690189,nssv674245,nssv682858,nssv679313,nssv679838,nssv691957,nssv652154,nssv675426,nssv678180 M 2026 0 9 "" esv270670 9 90035602 90035778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536537,essv2543833,essv2550694,essv2535300,essv2554124,essv2520384,essv2563958,essv2554974,essv2542634,essv2519867,essv2530969,essv2553289,essv2551156,essv2575635,essv2551276 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA11920,NA11992,NA12155,NA12249,NA12287,NA12716,NA12828,NA12872,NA18550,NA18566,NA18573,NA18605,NA18858,NA19099,NA19257 esv1006270 9 90046485 90052397 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564112 S 3 0 1 "" HuRef nsv6604 9 90046841 90092947 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5168,nssv6287 M 9 0 2 "" NA12156,NA19129 nsv435881 9 90047101 90051164 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466545 S 2 0 1 "" NA15510 esv2436372 9 90047175 90051443 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5168043 S 1 0 1 "" NA18507 esv2485142 9 90047916 90051206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263053 S 1 0 1 "" NA18507 esv2304948 9 90048623 90050987 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4971557 S 1 0 1 "" NA18507 nsv512107 9 90048720 90050870 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624664 S 1 0 1 "" 1 esv4091 9 90048777 90050856 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26532 S 1 0 1 Single Asian sample YH "" YH esv7801 9 90048803 90050781 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30242 S 1 0 1 "" SJK esv1755956 9 90048816 90050796 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248064 S 2 0 1 "" HuRef nsv824972 9 90055161 90057936 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433010 S 31 0 1 "" NA18972 nsv520042 9 90085004 90089447 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697192 S 2026 0 1 "" esv2624213 9 90096796 90099838 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5292747 S 1 0 1 "" NA18507 esv28737 9 90097884 90099175 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19947 S 451 0 4 "" NA18861,NA19108,NA19114,NA19129 esv2490733 9 90122223 90122482 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285813 S 1 0 1 "" NA18507 nsv893555 9 90138569 90192107 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518740 S 6533 0 1 "" SP57973 nsv416462 9 90143333 90144830 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435040 M 24 "" nsv831649 9 90145041 90324180 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447868 S 95 0 1 SPIN1 esv23316 9 90193081 90194052 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21217 S 451 0 1 SPIN1 NA07045 nsv466432 9 90233065 90299318 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541978 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPIN1 HGDP01329 esv268172 9 90289522 90289607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515309 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12249 nsv6605 9 90312924 90347805 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv817 S 9 1 0 NXNL2 NA19240 esv24600 9 90338810 90339975 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13568 S 451 2 0 NXNL2 NA06985,NA12044 nsv511421 9 90338999 90340281 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626030 S 1 1 0 NXNL2 1 esv1143810 9 90431143 90431143 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275334 S 2 1 0 "" HuRef esv1316890 9 90431147 90431147 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4301574 S 2 1 0 "" HuRef nsv6606 9 90438711 90468316 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8628,nssv3729 M 9 2 0 LOC286238 NA12156,NA12878 nsv509308 9 90454480 90487869 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623562,nssv619552,nssv620924 M 4 3 0 LOC286238 NA10860,NA15510,NA18994 esv993735 9 90463820 90464364 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563709 S 3 1 0 "" HuRef esv1668030 9 90464364 90464364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4043539 S 2 1 0 "" HuRef esv26312 9 90476448 90478582 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15569 S 451 0 1 "" NA07037 esv2437951 9 90481369 90482966 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295523 S 1 0 1 "" NA18507 dgv46e194 9 90481821 90482564 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2143480,esv2118131 M 1 0 1 "" NA18507 nsv831650 9 90541281 90684739 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447869 S 95 1 0 MIR4289 nsv516062 9 90573556 90576041 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658160,nssv693975,nssv665945,nssv705785,nssv672152 M 2026 1 4 "" nsv893556 9 90634443 90820368 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587030 S 6533 1 0 C9orf47,S1PR3,SHC3 IS37986 nsv6607 9 90667393 90700765 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8629 S 9 1 0 "" NA12156 esv1154262 9 90691821 90691885 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3839881 S 2 0 1 "" HuRef nsv523702 9 90710360 90710680 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699510 S 2026 0 1 "" esv29340 9 90711906 90815337 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10573,esv21118,esv19215 M 451 3 5 C9orf47,S1PR3,SHC3 NA07045,NA12004,NA12156,NA12749,NA18508,NA18523,NA18909,NA19225 nsv523608 9 90736676 90752854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699402 S 2026 0 1 "" esv33575 9 90753416 90753915 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101532,essv98838,essv101236,essv95053,essv97368,essv93501,essv94272 M 51 0 7 "" 21603,21606,21618,21721,21879,22128,22394 esv2506531 9 90778949 90779880 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223556 S 1 1 0 "" NA18507 esv2554035 9 90844321 90845408 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325075 S 1 1 0 SHC3 NA18507 esv26782 9 90863166 90864876 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10833 S 451 0 1 SHC3 NA12414 nsv831651 9 90908066 91124711 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447870 S 95 1 0 CKS2,MIR3153,SECISBP2,SHC3 nsv819886 9 90918363 90921467 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419510 S 2 0 1 SHC3 AK1 nsv6608 9 90948973 90994076 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8630 S 9 0 1 SHC3 NA12156 nsv893557 9 90994933 91054053 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518156 S 6533 0 1 "" SP57469 esv2425366 9 91032991 91034528 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5281489 S 1 0 1 "" NA18507 esv21740 9 91058015 91059573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11578 S 451 0 1 "" NA12414 esv1724908 9 91059219 91059219 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3718131 S 2 1 0 "" HuRef esv1506636 9 91059231 91059231 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4111019 S 2 1 0 "" HuRef esv1001078 9 91108975 91113241 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564935 S 3 1 0 "" HuRef esv270568 9 91137465 91137648 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511733,essv2494900,essv2498625,essv2513544,essv2506884,essv2497606 M 157 6 0 Samples from several populations that are part of the HapMap project. SECISBP2 NA18499,NA18520,NA18858,NA18907,NA19102,NA19147 esv29434 9 91153223 91533202 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18121,esv14368,esv19516 M 451 1 3 GADD45G,SECISBP2,SEMA4D,UNQ6494 NA12414,NA12828,NA12878,NA19129 esv7634 9 91186384 91186482 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30075 S 1 1 0 SEMA4D SJK esv2294805 9 91209492 91209946 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878475 S 1 0 1 SEMA4D NA18507 nsv517495 9 91212291 91264654 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669291,nssv699273,nssv705978,nssv652189,nssv669587,nssv687647,nssv686773,nssv676888,nssv674112 M 2026 0 9 SEMA4D nsv510200 9 91226236 91232236 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618316 S 4 0 1 SEMA4D CHM nsv893558 9 91256288 91647317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587031 S 6533 1 0 GADD45G,SEMA4D,UNQ6494 IS37986 esv2629900 9 91267128 91267943 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223541 S 1 1 0 SEMA4D NA18507 esv3490 9 91276288 91276783 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25931 S 1 0 1 Single Asian sample YH SEMA4D YH nsv415790 9 91276618 91276713 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434368 M 24 SEMA4D nsv893559 9 91338813 91373016 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507105 S 6533 0 1 "" SP54471 esv33568 9 91343796 91344519 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96958,essv97167 M 51 2 0 "" 21817,22075 nsv469563 9 91349981 91528554 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649675 M 265 0 0 Samples from several populations that are part of the HapMap project. GADD45G,UNQ6494 nsv471662 9 91349982 91528554 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549311,nssv549310 M 48 1 1 GADD45G,UNQ6494 JK1688,NA17059 esv32654 9 91354117 91357654 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101159,essv96928,essv97215,essv99648 M 51 0 4 "" 21618,21817,22075,22217 nsv8549 9 91364838 91368951 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17032,nssv18525,nssv18025,nssv18196,nssv21563,nssv17544,nssv21051 M 31 0 7 Samples from several populations that are part of the HapMap project. "" NA18537,NA18552,NA18860,NA18942,NA18972,NA18975,NA18980 esv32845 9 91365597 91367649 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101260,essv96927,essv97266,essv99605 M 51 0 4 "" 21618,21817,22075,22217 dgv1225n67 9 91365742 91367922 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824976,nsv824973,nsv824974,nsv824977 M 31 0 16 "" AK12,AK16,AK4,AK8,NA18537,NA18542,NA18552,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 esv8029 9 91365862 91367794 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30470 S 1 0 1 "" SJK nsv8550 9 91373070 91393406 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20533,nssv16805,nssv21593 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA10847,NA18504,NA18972 esv33786 9 91374592 91381613 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98658 S 51 0 1 "" 21606 nsv509309 9 91389174 91481837 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619553 S 4 1 0 GADD45G,UNQ6494 NA10860 nsv466433 9 91451684 91480694 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541979 S 1557 0 1 UNQ6494 1780862093_A esv2466676 9 91476090 91476564 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256690 S 1 1 0 UNQ6494 NA18507 nsv466434 9 91480694 91529744 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541980 S 1557 0 1 UNQ6494 1780862345_A nsv824978 9 91505317 91505805 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425936 S 31 0 1 UNQ6494 AK4 nsv893560 9 91597447 91647317 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520285 S 6533 1 0 "" SP50791 esv274023 9 91668047 91668255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583962,essv2583385 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv23077 9 91718675 91737980 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15329 S 451 1 0 "" NA12878 nsv515158 9 91762832 91763376 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627085 S 1414 0 0 "" nsv893561 9 91772188 91841921 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520286 S 6533 1 0 LOC286370,MIR4290 SP50791 esv28494 9 91808438 91809192 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17949 S 451 0 1 "" NA19099 nsv893562 9 91834541 91890698 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587032 S 6533 1 0 LOC286370 IS37986 nsv893563 9 91856547 92006945 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520287 S 6533 1 0 "" SP50791 nsv415742 9 91964503 91964916 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434320 M 24 "" esv2558426 9 92096914 92097948 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5256476 S 1 1 0 "" NA18507 esv270002 9 92097313 92097638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557776,essv2576102,essv2541027,essv2546357,essv2525848,essv2542478,essv2577609,essv2570606,essv2548424,essv2521627,essv2525485,essv2535130,essv2544420,essv2558396,essv2564586,essv2577726,essv2576404,essv2520086,essv2561929,essv2537410,essv2528489,essv2547039,essv2520972,essv2557316,essv2557189,essv2552536,essv2551656,essv2532156,essv2569528,essv2578646,essv2550186,essv2558787,essv2537027,essv2539070,essv2569812,essv2561375,essv2563068,essv2523842,essv2541087,essv2538192,essv2540265,essv2524676,essv2534585,essv2539921,essv2549582,essv2519798,essv2560127,essv2566326,essv2531132,essv2532919,essv2567652,essv2567566,essv2541731,essv2563767,essv2553272,essv2572474,essv2559292,essv2550911,essv2569042,essv2543606,essv2556456,essv2562178,essv2539277,essv2533955,essv2578132,essv2573206,essv2533793,essv2555638,essv2567014,essv2566556,essv2529931,essv2557594,essv2556111,essv2522416,essv2531393,essv2573641,essv2543187,essv2577161,essv2525784,essv2526833,essv2529783,essv2575704,essv2575089,essv2526492,essv2560907,essv2574735,essv2530206,essv2572827,essv2568429,essv2545050,essv2560333,essv2571545,essv2545728,essv2574189,essv2551256,essv2535903,essv2538139,essv2549061,essv2533210,essv2547655,essv2524799 M 157 101 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07347,NA07357,NA10851,NA11830,NA11831,NA11881,NA11918,NA11919,NA12043,NA12044,NA12045,NA12144,NA12156,NA12249,NA12414,NA12750,NA12751,NA12761,NA12814,NA12815,NA12874,NA12878,NA12891,NA12892,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18523,NA18532,NA18537,NA18545,NA18547,NA18552,NA18555,NA18561,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18603,NA18605,NA18609,NA18638,NA18858,NA18861,NA18870,NA18871,NA18909,NA18912,NA18916,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18953,NA18956,NA18960,NA18961,NA18964,NA18965,NA18970,NA18980,NA19005,NA19093,NA19099,NA19102,NA19114,NA19137,NA19138,NA19141,NA19143,NA19147,NA19172,NA19190,NA19238,NA19239,NA19240,NA19257 esv272573 9 92097313 92097638 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584181,essv2583636 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv893564 9 92114048 92156764 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520288 S 6533 1 0 "" SP50791 nsv528155 9 92146363 92192537 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704703 S 2026 1 0 "" nsv516680 9 92156764 92178420 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703021,nssv678979,nssv670114,nssv659095 M 2026 1 3 "" nsv893565 9 92170616 92432152 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587033 S 6533 1 0 DIRAS2,LOC340515 IS37986 esv269270 9 92234329 92234667 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514503,essv2519282,essv2517472,essv2517108,essv2515505,essv2515152,essv2516596,essv2515898,essv2517841,essv2516230,essv2516904,essv2515237,essv2518876,essv2518245,essv2519485 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11840,NA11894,NA11918,NA11931,NA12249,NA12812,NA12814,NA12873,NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv273959 9 92234338 92234664 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584764,essv2583623 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv893566 9 92249743 92479079 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584333 S 6533 1 0 DIRAS2,LOC340515 IS36973 esv273715 9 92280643 92280728 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581387 S 7 1 0 Samples from several populations that are part of the HapMap project. LOC340515 NA12878 nsv6610 9 92468228 92513166 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5169 S 9 0 1 "" NA19129 nsv526632 9 92481494 92483351 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702954 S 2026 0 1 "" nsv523018 9 92506451 92508714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698694 S 2026 0 1 "" nsv893567 9 92559101 92649489 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587034 S 6533 1 0 SYK IS37986 nsv831652 9 92567232 92736744 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447871 S 95 1 0 SYK nsv893568 9 92579700 92814206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575525 S 6533 0 1 SYK IS33768 nsv893569 9 92592371 92626910 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584334 S 6533 1 0 SYK IS36973 esv275555 9 92605820 92610272 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586125,essv2585996 M 1250 1 1 SYK esv7686 9 92627880 92627996 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30127 S 1 1 0 SYK SJK esv24177 9 92643162 92644830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14762 S 451 0 1 SYK NA12414 esv1404670 9 92643564 92643564 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4192660 S 2 1 0 SYK HuRef dgv265n6 9 92678405 92683782 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv416141,nsv416495 M 24 SYK esv2367314 9 92705133 92705556 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822534 S 1 0 1 "" NA18507 esv1310580 9 92705320 92705392 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4040790 S 2 0 1 "" HuRef nsv416826 9 92728556 92738143 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435404 M 24 "" nsv824979 9 92827926 92829269 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426856 S 31 0 1 "" AK6 nsv523562 9 92831231 92839838 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699343 S 2026 0 1 "" nsv893570 9 93013759 93187905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551485 S 6533 0 1 AUH,MIR3163 MS18902 esv21900 9 93057715 93059533 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19451 S 451 0 1 AUH NA19225 nsv523129 9 93063396 93065812 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698832 S 2026 0 1 AUH esv2491583 9 93072011 93073483 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379927 S 1 0 1 AUH NA18507 esv267496 9 93098276 93099034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495443,essv2505101,essv2512253,essv2493462,essv2498290,essv2508744,essv2500478,essv2497153,essv2500055,essv2504548,essv2506338,essv2511346,essv2500111,essv2507630,essv2512661,essv2508461,essv2508687,essv2499218,essv2501619,essv2507467,essv2511696,essv2504910,essv2503505,essv2502396,essv2493044,essv2505396,essv2497369,essv2503708,essv2502735,essv2500741 M 157 30 0 Samples from several populations that are part of the HapMap project. AUH NA11919,NA11995,NA12155,NA12763,NA18526,NA18532,NA18537,NA18552,NA18558,NA18563,NA18566,NA18570,NA18573,NA18576,NA18577,NA18582,NA18592,NA18605,NA18608,NA18638,NA18940,NA18942,NA18947,NA18948,NA18951,NA18952,NA18959,NA18960,NA18965,NA18973 nsv893571 9 93111934 93242748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587035 S 6533 1 0 AUH,MIR3163,NFIL3 IS37986 nsv824980 9 93171323 93255732 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438991 S 31 1 0 NFIL3 NA18973 nsv818712 9 93187905 93194103 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417234 S 112 1 0 "" NA18576 nsv824981 9 93223148 93228699 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433802 S 31 1 0 NFIL3 NA18526 esv272849 9 93312880 93313213 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580599 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv275579 9 93408335 93411140 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585194,essv2585954 M 1250 1 1 "" esv275033 9 93411527 93413627 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585887 S 1250 0 1 "" nsv438109 9 93435880 93440579 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470106 S 269 0 1 Samples from several populations that are part of the HapMap project. MIR3910-1,MIR3910-2 NA12760 nsv516473 9 93435880 93445273 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685012,nssv669617,nssv692663,nssv681947,nssv662852,nssv686668,nssv674227,nssv661936,nssv676206,nssv668573,nssv679704,nssv671340,nssv674398,nssv660762,nssv693322,nssv679181,nssv682736,nssv677011,nssv683574,nssv686789,nssv689475,nssv668711,nssv654618,nssv667814,nssv669231,nssv657543,nssv678464,nssv678484,nssv690203,nssv652964,nssv667514,nssv655657,nssv685803,nssv652316,nssv658105,nssv660086,nssv679555,nssv689822,nssv677349,nssv680867,nssv655780,nssv651878,nssv656874,nssv657767 M 2026 0 44 MIR3910-1,MIR3910-2 nsv818713 9 93435880 93445905 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417926 S 112 0 1 MIR3910-1,MIR3910-2 NA06993 nsv442160 9 93442089 93443262 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515159 9 93442112 93443216 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628028 S 1414 0 1 "" nsv6611 9 93446551 93466134 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3730 S 9 1 0 "" NA12878 esv272481 9 93456556 93456641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581405,essv2581062 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 dgv490n21 9 93496535 93516239 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv516266,nsv521046 M 2026 0 5 "" esv2614187 9 93497324 93498004 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191409 S 1 1 0 "" NA18507 nsv415988 9 93516636 93516689 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434566 M 24 "" nsv6612 9 93530465 93575559 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8631 S 9 0 1 ROR2 NA12156 nsv6613 9 93536116 93568466 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10675 S 9 1 0 ROR2 NA18956 nsv523940 9 93586385 93613574 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699786 S 2026 0 1 ROR2 nsv512108 9 93597810 93601374 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624665 S 1 0 1 ROR2 1 nsv518372 9 93597947 93645729 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695799 S 2026 0 1 ROR2 esv26797 9 93598634 93600663 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10915 S 451 1 0 ROR2 NA12006 esv2433329 9 93598661 93601049 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5287176 S 1 0 1 ROR2 NA18507 esv1005607 9 93599401 93599699 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577681 S 3 0 1 ROR2 HuRef esv1763164 9 93599547 93599846 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4156256 S 2 0 1 ROR2 HuRef esv24812 9 93603202 93605907 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15414 S 451 0 1 ROR2 NA19099 nsv6614 9 93611170 93649906 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8632 S 9 0 1 ROR2 NA12156 nsv831653 9 93732275 93907363 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447872 S 95 1 0 ROR2,SPTLC1 nsv523871 9 93736600 93736929 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699712 S 2026 1 0 ROR2 nsv893572 9 93931599 93984599 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1555524 S 6533 0 1 LINC00475,LOC100128076 MS21402 nsv893573 9 94014009 94395540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587036 S 6533 1 0 ASPN,CENPP,ECM2,IARS,MIR3651,MIR4670,NOL8,OGN,OMD,SNORA84 IS37986 nsv6615 9 94026912 94060654 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8633 S 9 1 0 IARS NA12156 esv1019101 9 94322168 94322168 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787988 S 2 1 0 CENPP,ECM2 HuRef nsv527206 9 94324033 94324803 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703606 S 2026 0 1 CENPP,ECM2 esv999632 9 94523706 94531088 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563740 S 3 0 1 BICD2 HuRef nsv6616 9 94554755 94601212 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2816,nssv818 M 9 2 0 BICD2 NA18555,NA19240 nsv831654 9 94582741 94760782 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447874 S 95 1 0 ANKRD19P,FGD3,ZNF484 nsv893574 9 94620197 94727920 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584335 S 6533 1 0 ANKRD19P,ZNF484 IS36973 nsv525363 9 94638021 94644888 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701482 S 2026 0 1 ANKRD19P esv2468145 9 94673512 94675092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389206 S 1 0 1 ZNF484 NA18507 esv1653300 9 94674351 94674615 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275120 S 2 0 1 ZNF484 HuRef esv268750 9 94720299 94720626 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2545346,essv2523454,essv2548385,essv2576551,essv2554068,essv2537593,essv2547020,essv2564805,essv2534901,essv2566322,essv2532792,essv2563863,essv2535794,essv2551106,essv2573055,essv2533766,essv2529981,essv2573974,essv2527415,essv2556072,essv2573601,essv2525729,essv2548943,essv2554550 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA12003,NA12004,NA12045,NA12154,NA12287,NA12878,NA12892,NA18558,NA18561,NA18572,NA18576,NA18603,NA18608,NA18858,NA18942,NA18944,NA18949,NA18951,NA18952,NA18956,NA18964,NA18980 esv273830 9 94720303 94720632 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581645,essv2582265,essv2583053,essv2584192,essv2584424,essv2583853 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv526296 9 94748013 95070213 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702577 S 2026 0 1 C9orf89,FGD3,NINJ1,SUSD3,WNK2 esv989428 9 94762025 94762467 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586929 S 3 0 1 FGD3 HuRef esv2188240 9 94812567 94812980 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4688582 S 1 0 1 FGD3 NA18507 nsv6617 9 94815971 94849540 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8634 S 9 1 0 FGD3 NA12156 nsv893575 9 94820861 94893834 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543542 S 6533 0 1 FGD3,SUSD3 MS16153 nsv521136 9 94822488 94838692 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693087,nssv695612,nssv682722 M 2026 0 3 FGD3 nsv893576 9 94829781 95198098 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587037 S 6533 1 0 C9orf129,C9orf89,FGD3,NINJ1,SUSD3,WNK2 IS37986 dgv8260n71 9 94852528 94927141 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893577,nsv893578 M 6533 0 2 C9orf89,NINJ1,SUSD3 IS30837,MS13770 esv32996 9 94874304 94877617 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98813 S 51 1 0 SUSD3 21606 dgv8261n71 9 94894921 94970155 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893579,nsv893581 M 6533 0 2 C9orf89,NINJ1 MS10311,MS17208 nsv893580 9 94894921 95139198 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585890 S 6533 0 1 C9orf129,C9orf89,NINJ1,WNK2 IS37646 nsv824982 9 94934866 94937574 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426862 S 31 1 0 NINJ1 NA18547 nsv824983 9 94941975 95018229 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438992 S 31 1 0 WNK2 NA18973 nsv509310 9 94995920 95051098 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619554 S 4 1 0 WNK2 NA10860 nsv415836 9 94997141 94997802 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434414 M 24 WNK2 nsv415527 9 95000688 95001292 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434105 M 24 WNK2 nsv893582 9 95002935 95156758 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546687 S 6533 0 1 C9orf129,WNK2 MS17208 esv2506086 9 95010398 95011095 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233782 S 1 1 0 WNK2 NA18507 esv1576972 9 95010855 95010855 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092242 S 2 1 0 WNK2 HuRef esv1441694 9 95013360 95013360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4170576 S 2 1 0 WNK2 HuRef dgv8262n71 9 95036394 95156758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893584,nsv893583 M 6533 0 2 C9orf129,WNK2 IS39233,MS16153 nsv415569 9 95039051 95039129 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434147 M 24 WNK2 esv7472 9 95130737 95157722 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29913 S 1 0 0 C9orf129 SJK nsv824984 9 95350754 95414843 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438993 S 31 1 0 FAM120A,PHF2 NA18973 nsv824985 9 95377556 95380170 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428085 S 31 1 0 PHF2 NA18547 nsv509311 9 95382658 95498838 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619555 S 4 1 0 PHF2 NA10860 nsv893585 9 95403680 95443188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538633 S 6533 0 1 PHF2 MS13770 nsv893586 9 95403680 95533594 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587038 S 6533 1 0 PHF2 IS37986 esv268435 9 95411171 95411510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514593,essv2516626,essv2517503,essv2518548,essv2515103,essv2516401,essv2518102,essv2514426,essv2517782 M 157 9 0 Samples from several populations that are part of the HapMap project. PHF2 NA11840,NA11881,NA11918,NA12287,NA12812,NA12814,NA12872,NA12874,NA12878 esv274303 9 95411171 95411510 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581520 S 7 1 0 Samples from several populations that are part of the HapMap project. PHF2 NA12878 nsv512992 9 95420799 95422026 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625648 S 1 1 0 PHF2 1 esv2631126 9 95420839 95421350 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5161578 S 1 1 0 PHF2 NA18507 nsv519449 9 95421921 95435250 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673359,nssv656224,nssv672256 M 2026 0 3 PHF2 nsv893587 9 95423426 95491605 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546688 S 6533 0 1 PHF2 MS17208 esv28910 9 95473072 95475152 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10878 S 451 0 1 PHF2 NA12414 esv1581383 9 95473953 95474457 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001094 S 2 0 1 PHF2 HuRef nsv819652 9 95508450 95511185 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419472 S 2 0 1 "" AK1 dgv1226n67 9 95508816 95511531 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824988,nsv824987 M 31 0 5 "" AK4,AK6,NA18537,NA18582,NA18999 esv2561478 9 95509401 95511708 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5245015 S 1 0 1 "" NA18507 esv2127279 9 95510005 95511465 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4853681 S 1 0 1 "" NA18507 esv4919 9 95510147 95511370 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27360 S 1 0 1 Single Asian sample YH "" YH nsv824989 9 95510151 95510989 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438294,nssv1422758,nssv1429307,nssv1440489 M 31 0 4 "" NA18547,NA18552,NA18564,NA18951 dgv1227n67 9 95510151 95511531 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv824990,nsv824991 M 31 0 13 "" AK10,AK12,AK14,AK16,AK20,AK8,NA18542,NA18566,NA18570,NA18942,NA18947,NA18973,NA18997 esv29882 9 95510165 95511320 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20563 S 451 0 7 "" NA07045,NA12239,NA12749,NA15510,NA19099,NA19114,NA19147 nsv415728 9 95510176 95511285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434306 M 24 "" esv2472321 9 95510298 95512393 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184048 S 1 0 1 "" NA18507 nsv511423 9 95533791 95541569 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626034 S 1 1 0 "" 1 nsv6618 9 95535753 95544150 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1792 S 9 0 1 "" NA18555 esv2441759 9 95539088 95543260 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5257930 S 1 0 1 "" NA18507 nsv820816 9 95539163 95543218 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420818 S 1 0 1 "" NA10851 esv23093 9 95539234 95543145 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20095,esv10729 M 451 20 0 "" NA06985,NA07037,NA11995,NA12004,NA12006,NA12044,NA12156,NA12287,NA12828,NA18502,NA18505,NA18861,NA18907,NA18909,NA18916,NA19114,NA19129,NA19147,NA19190,NA19225 esv4211 9 95539946 95542938 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26652 S 1 0 1 Single Asian sample YH "" YH nsv499456 9 95539981 95542867 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586115 S 9 0 1 "" esv1677316 9 95542781 95542781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4173042 S 2 1 0 "" HuRef esv1684733 9 95542813 95542813 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3972955 S 2 1 0 "" HuRef esv1390629 9 95542848 95542848 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4072519 S 2 1 0 "" HuRef nsv6619 9 95599989 95633256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8635 S 9 1 0 MIR4291 NA12156 nsv893588 9 95660240 95708173 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538634 S 6533 0 1 "" MS13770 nsv824992 9 95662143 95662635 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425938 S 31 1 0 "" AK4 nsv893589 9 95664466 95924365 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587039 S 6533 1 0 BARX1,PTPDC1 IS37986 nsv416501 9 95674077 95674077 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435079 M 24 "" nsv415976 9 95674114 95674114 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434554 M 24 "" nsv509312 9 95681266 95764721 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619556 S 4 1 0 BARX1 NA10860 esv24328 9 95702894 95703424 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17010 S 451 0 1 "" NA12044 esv29554 9 95719527 95720572 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13498 S 451 0 4 "" NA11995,NA15510,NA18505,NA19190 nsv824993 9 95739183 95764926 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431471 S 31 1 0 BARX1 AK18 nsv893590 9 95741108 95768950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510780 S 6533 0 1 BARX1 SP54988 esv2072718 9 95770079 95770622 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4709123 S 1 0 1 "" NA18507 esv3546 9 95770145 95770597 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25987 S 1 0 1 Single Asian sample YH "" YH esv989152 9 95770167 95770418 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577647 S 3 0 1 "" HuRef nsv415390 9 95770167 95770418 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433968 M 24 "" esv1787352 9 95770179 95770431 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287845 S 2 0 1 "" HuRef nsv507521 9 95853582 95859582 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621946,nssv620451 M 4 2 0 PTPDC1 NA10860,NA15510 nsv831655 9 95873863 96081830 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447875,nssv1447893,nssv1447878,nssv1447877,nssv1447879,nssv1447881,nssv1447880,nssv1447882,nssv1447883,nssv1447887,nssv1447885,nssv1447886,nssv1447892,nssv1447888,nssv1447891,nssv1447890,nssv1447889,nssv1447876 M 95 18 0 MIRLET7A1,MIRLET7D,MIRLET7F1,PTPDC1,ZNF169 nsv893591 9 95888958 95923092 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515545 S 6533 0 1 PTPDC1 SP56223 nsv893592 9 96013816 96335090 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536454 S 6533 1 0 FAM22F,HIATL1,LOC100132077,ZNF169 MS12787 nsv6621 9 96016004 96022331 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3731 S 9 1 0 "" NA12878 esv1152524 9 96072825 96072825 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3921960 S 2 1 0 ZNF169 HuRef esv24951 9 96108714 96128996 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19421 S 451 1 0 FAM22F NA12239 nsv482131 9 96120299 96130747 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558492 S 1 1 0 FAM22F KB1 esv33917 9 96225413 96256033 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96492,essv99327,essv100173 M 51 3 0 HIATL1 22261,22275,22286 nsv893593 9 96236800 96268739 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504035 S 6533 0 1 HIATL1 SP52165 nsv415866 9 96252611 96255251 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434444 M 24 HIATL1 nsv893594 9 96261284 96323047 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550289 S 6533 1 0 HIATL1 MS18392 nsv893595 9 96308003 96370514 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584336 S 6533 1 0 FBP2 IS36973 nsv525298 9 96329404 96352405 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701404 S 2026 0 1 "" esv2572120 9 96331771 96333356 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340003 S 1 0 1 "" NA18507 esv2357961 9 96332542 96333122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4795192 S 1 0 1 "" NA18507 esv3007 9 96332551 96333264 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25448 S 1 0 1 Single Asian sample YH "" YH esv990036 9 96332735 96333059 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566653 S 3 0 1 "" HuRef esv1629560 9 96332743 96333068 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691870 S 2 0 1 "" HuRef esv6187 9 96332744 96333062 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28628 S 1 0 1 "" SJK esv272212 9 96354040 96354376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581671,essv2582286,essv2582813,essv2584044,essv2584464,essv2583849 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv269848 9 96354040 96354378 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516738,essv2519266,essv2514171,essv2518745,essv2518591,essv2516597,essv2518047,essv2516143,essv2514417,essv2517730,essv2516210,essv2516926,essv2517334 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA11894,NA12043,NA12045,NA12287,NA12814,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18970 esv1310962 9 96354077 96354077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4039514 S 2 1 0 "" HuRef esv25012 9 96356728 96359917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18072 S 451 0 1 "" NA07037 nsv893596 9 96360993 96638787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507789 S 6533 1 0 C9orf3,FBP1,FBP2,MIR2278 SP54693 nsv521698 9 96373096 96378042 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698320 S 2026 0 1 FBP2 esv25230 9 96373953 96374885 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16336,esv15207 M 451 0 5 FBP2 NA12414,NA18909,NA19114,NA19129,NA19257 nsv466436 9 96383441 96408970 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541981 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FBP1,FBP2 HGDP00897 nsv893597 9 96420418 96503256 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587040 S 6533 1 0 FBP1 IS37986 esv269321 9 96427197 96427538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514581,essv2517427,essv2514041,essv2515316,essv2518470,essv2516502,essv2514397,essv2517844,essv2515808,essv2517219,essv2518236,essv2519351 M 157 12 0 Samples from several populations that are part of the HapMap project. FBP1 NA07346,NA11840,NA11918,NA12043,NA12249,NA12287,NA12814,NA12874,NA12878,NA18969,NA18970,NA19240 esv274676 9 96427197 96427538 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581031 S 7 1 0 Samples from several populations that are part of the HapMap project. FBP1 hapmap_pooled_sample_set nsv415436 9 96427238 96427616 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434014 M 24 FBP1 esv2584037 9 96488557 96489588 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5308147 S 1 1 0 "" NA18507 esv25023 9 96502397 96504347 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10242 S 451 0 1 "" NA19190 nsv517074 9 96503256 96504202 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653575,nssv671735 M 2026 0 2 "" esv8177 9 96604049 96604142 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30618 S 1 1 0 C9orf3 SJK esv271677 9 96750505 96750605 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2520960,essv2556848,essv2578602,essv2527264,essv2561497,essv2551002,essv2543598,essv2527750,essv2562207,essv2578262,essv2575141,essv2526673,essv2560770,essv2524303,essv2530451,essv2560474,essv2571372,essv2546058,essv2574379,essv2551255 M 157 20 0 Samples from several populations that are part of the HapMap project. C9orf3 NA18498,NA18501,NA18510,NA18522,NA18523,NA18858,NA18870,NA18907,NA18909,NA18940,NA19102,NA19114,NA19116,NA19129,NA19141,NA19190,NA19238,NA19239,NA19240,NA19257 esv274590 9 96750508 96750654 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580954,essv2578922,essv2579806 M 7 3 0 Samples from several populations that are part of the HapMap project. C9orf3 NA19238,NA19239,NA19240 esv8735 9 96852176 96852262 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31176 S 1 1 0 C9orf3 SJK nsv831656 9 96871372 97029801 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447894 S 95 0 1 C9orf3,FANCC,MIR23B,MIR24-1,MIR27B,MIR3074 nsv831657 9 96999095 97244590 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447896 S 95 0 1 FANCC nsv831658 9 97192792 97381999 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447898,nssv1447897 M 95 2 0 LOC100507346,PTCH1 dgv1228n67 9 97279784 97366368 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv824994,nsv824995 M 31 2 0 PTCH1 NA18542,NA18973 nsv824996 9 97285196 97323682 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427863 S 31 1 0 PTCH1 NA18968 esv5236 9 97305778 97306283 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27677 S 1 0 1 Single Asian sample YH PTCH1 YH esv1011041 9 97305836 97306164 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580390 S 3 0 1 PTCH1 HuRef nsv415659 9 97305836 97306164 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434237 M 24 PTCH1 esv1142459 9 97305836 97306165 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706616 S 2 0 1 PTCH1 HuRef esv7061 9 97372632 97373869 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29502 S 1 0 1 "" SJK esv2547119 9 97375876 97377263 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5388695 S 1 0 1 "" NA18507 esv28475 9 97376343 97377188 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17097 S 451 0 5 "" NA12489,NA18861,NA19099,NA19108,NA19147 esv4166 9 97376461 97377176 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26607 S 1 0 1 Single Asian sample YH "" YH nsv416250 9 97488704 97492385 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434828 M 24 "" nsv524323 9 97492614 97493501 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700227 S 2026 0 1 "" nsv893598 9 97548449 97685495 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584337 S 6533 1 0 C9orf102,LINC00476 IS36973 nsv893599 9 97582231 98031075 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587041 S 6533 1 0 C9orf102,LINC00092,LINC00476,LOC158435 IS37986 nsv524001 9 97596715 97598665 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699861 S 2026 0 1 "" nsv893600 9 97648810 97815280 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1563390 S 6533 0 1 C9orf102,LINC00476 MS25980 nsv524894 9 97677251 97680065 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700900 S 2026 0 1 C9orf102,LINC00476 esv272168 9 97736396 97736777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580925 S 7 1 0 Samples from several populations that are part of the HapMap project. C9orf102 NA19238 esv269218 9 97736540 97736868 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575869,essv2546628,essv2542292,essv2523030,essv2570854,essv2523100,essv2548341,essv2576346,essv2552699,essv2527130,essv2563018,essv2542904,essv2565132,essv2567889,essv2541534,essv2572437,essv2551092,essv2543462,essv2556425,essv2527765,essv2562313,essv2574013,essv2575785,essv2572846,essv2549836,essv2571353,essv2536118,essv2548729 M 157 28 0 Samples from several populations that are part of the HapMap project. C9orf102 NA06986,NA07037,NA11830,NA11881,NA11919,NA11931,NA11993,NA12004,NA12045,NA12814,NA18502,NA18522,NA18532,NA18550,NA18558,NA18577,NA18592,NA18609,NA18858,NA18870,NA18871,NA18907,NA18909,NA18951,NA19099,NA19143,NA19225,NA19238 nsv524266 9 97820427 97844095 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700163 S 2026 0 1 LINC00092 nsv6622 9 97893472 97934676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5170,nssv3732 M 9 2 0 LOC158435 NA12878,NA19129 nsv466437 9 97962620 97976425 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541982 S 1557 1 0 "" NINDS_158 nsv893601 9 98018481 98046399 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499768 S 6533 0 1 HSD17B3 SP50102 nsv6623 9 98067629 98102186 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv820 S 9 1 0 HSD17B3 NA19240 esv4565 9 98102340 98102858 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27006 S 1 0 1 Single Asian sample YH HSD17B3 YH nsv893602 9 98118935 98211452 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1544849 S 6533 1 0 SLC35D2,ZNF367 MS16544 nsv893603 9 98125184 98302117 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587042 S 6533 1 0 HABP4,SLC35D2,ZNF367 IS37986 nsv824998 9 98196105 98269973 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438997 S 31 1 0 HABP4,ZNF367 NA18973 nsv416131 9 98226682 98226682 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434709 M 24 "" nsv893604 9 98229774 98335787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584338 S 6533 1 0 CDC14B,HABP4 IS36973 esv22781 9 98288625 98289461 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10183 S 451 0 2 HABP4 NA11995,NA12749 nsv522838 9 98330995 98410189 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698490 S 2026 0 1 CDC14B esv2306628 9 98337682 98338085 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4911515 S 1 0 1 CDC14B NA18507 esv2089533 9 98344134 98344552 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4557708 S 1 0 1 CDC14B NA18507 esv6348 9 98352557 98352625 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28789 S 1 1 0 CDC14B SJK nsv415660 9 98353234 98355463 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434238 M 24 CDC14B nsv893605 9 98363974 98573255 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587043 S 6533 1 0 C9orf21,CDC14B,LOC441455,ZNF510 IS37986 nsv824999 9 98394519 98487190 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438998 S 31 1 0 C9orf21,CDC14B NA18973 esv2442788 9 98435299 98437310 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275496 S 1 0 1 "" NA18507 esv1923447 9 98435638 98436709 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4755622 S 1 0 1 "" NA18507 nsv416110 9 98480755 98482063 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434688 M 24 "" nsv831660 9 98524879 98711901 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447899 S 95 1 0 LOC100132781,LOC441454,LOC441455,ZNF510,ZNF782 nsv520001 9 98573255 98834946 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683518,nssv660024,nssv673014,nssv693976,nssv660577 M 2026 0 5 CTSL2,FAM22G,HIATL2,LOC100132781,LOC441454,ZNF510,ZNF782 nsv6624 9 98588608 98633789 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8636 S 9 0 1 ZNF782 NA12156 esv269976 9 98594554 98594833 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504021 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv831661 9 98651789 98840413 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447900,nssv1447902,nssv1447901 M 95 0 3 CTSL2,FAM22G,HIATL2,LOC100132781,LOC441454,ZNF782 esv2535600 9 98695413 98696767 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322925 S 1 0 1 "" NA18507 nsv893606 9 98699429 98834946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592666 S 6533 1 0 CTSL2,FAM22G,HIATL2,LOC441454 IS39243 nsv442560 9 98700200 98729161 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC441454 esv28215 9 98734421 98744307 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11460 S 451 1 0 FAM22G NA07037 nsv6625 9 98762046 98797088 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv821 S 9 1 0 HIATL2 NA19240 nsv831662 9 98792342 98979052 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447903 S 95 1 0 CTSL2,HIATL2,LOC340508 esv25444 9 98885896 98889630 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21023 S 451 0 1 "" NA18502 nsv6626 9 98891097 98897349 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8637 S 9 0 1 "" NA12156 dgv8263n71 9 98946366 99044949 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893608,nsv893607 M 6533 2 0 BDAG1,LOC100499484 MS16125,MS21159 nsv415491 9 98973096 98977743 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434069 M 24 "" esv1727048 9 99057670 99057670 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3963447 S 2 1 0 BDAG1,LOC100499484 HuRef esv269397 9 99164728 99164977 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496435,essv2507267,essv2502051 M 157 3 0 Samples from several populations that are part of the HapMap project. BDAG1,C9orf174 NA18510,NA18870,NA19257 nsv893609 9 99203819 99337413 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587044 S 6533 1 0 TDRD7,TMOD1 IS37986 nsv415696 9 99213271 99213382 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434274 M 24 "" nsv893610 9 99363907 99535981 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587045 S 6533 1 0 NCBP1,TMOD1,TSTD2,XPA IS37986 nsv819796 9 99428271 99429644 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419247 S 2 0 1 TSTD2 AK1 nsv893611 9 99600876 99779709 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587046 S 6533 1 0 C9orf156,FOXE1,HEMGN IS37986 nsv6627 9 99616079 99660855 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8638 S 9 0 1 FOXE1 NA12156 nsv507522 9 99643965 99649965 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623075,nssv620452 M 4 2 0 "" NA15510,NA18994 nsv825000 9 99652942 99658140 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430529 S 31 1 0 FOXE1 NA18547 esv993116 9 99659145 99662044 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564744 S 3 1 0 "" HuRef nsv525113 9 99709620 99726636 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701175 S 2026 0 1 C9orf156 esv271218 9 99715332 99715417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514135,essv2517821 M 157 2 0 Samples from several populations that are part of the HapMap project. C9orf156 NA12043,NA12878 esv272293 9 99715332 99715417 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581547 S 7 1 0 Samples from several populations that are part of the HapMap project. C9orf156 NA12878 nsv524282 9 99716987 99724578 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700181 S 2026 0 1 C9orf156 nsv893612 9 99772623 99794524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509932 S 6533 0 1 ANP32B SP54956 esv2540773 9 99800284 99801936 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5282403 S 1 0 1 ANP32B NA18507 esv4458 9 99800856 99801337 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26899 S 1 0 1 Single Asian sample YH ANP32B YH nsv416479 9 99800880 99801209 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435057 M 24 ANP32B esv1007178 9 99800883 99801212 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571919 S 3 0 1 ANP32B HuRef esv1721459 9 99800896 99801226 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4222038 S 2 0 1 ANP32B HuRef esv7209 9 99800900 99801228 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29650 S 1 0 1 ANP32B SJK nsv6628 9 99880490 99914178 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8639 S 9 1 0 NANS,TRIM14 NA12156 nsv893613 9 99925600 99983218 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587047 S 6533 1 0 CORO2A IS37986 nsv520067 9 99966982 100018363 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697204 S 2026 1 0 CORO2A,TBC1D2 esv2004305 9 99974200 99974695 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4499165 S 1 0 1 CORO2A NA18507 nsv831663 9 99980869 100149313 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447904 S 95 0 1 CORO2A,GABBR2,TBC1D2 esv2643659 9 100039897 100041815 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375121 S 1 0 1 TBC1D2 NA18507 esv24927 9 100040340 100041426 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15525,esv16900 M 451 0 9 TBC1D2 NA12489,NA18505,NA18511,NA18861,NA18916,NA19099,NA19129,NA19190,NA19225 nsv831664 9 100064683 100245458 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447905,nssv1447909,nssv1447907,nssv1447908 M 95 2 2 GABBR2 nsv519818 9 100064708 100132137 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697067 S 2026 1 0 GABBR2 esv269680 9 100130110 100130447 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519233,essv2517533,essv2518700,essv2515389,essv2515177,essv2517922,essv2514432,essv2515837,essv2517183,essv2518235 M 157 10 0 Samples from several populations that are part of the HapMap project. GABBR2 NA11894,NA11918,NA12045,NA12249,NA12812,NA12872,NA12874,NA18969,NA18970,NA19240 esv273169 9 100130110 100130447 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581064 S 7 1 0 Samples from several populations that are part of the HapMap project. GABBR2 NA19240 nsv831665 9 100209882 100407513 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447913,nssv1447911,nssv1447912,nssv1447910 M 95 4 0 GABBR2 esv2328336 9 100229658 100230080 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4551488 S 1 0 1 GABBR2 NA18507 nsv415967 9 100229868 100229927 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434545 M 24 GABBR2 esv5443 9 100249169 100249481 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27884 S 1 0 1 GABBR2 SJK nsv6629 9 100251138 100284803 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8640 S 9 1 0 GABBR2 NA12156 nsv6630 9 100276145 100307170 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8641 S 9 0 1 GABBR2 NA12156 nsv511424 9 100347932 100353192 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626035 S 1 1 0 GABBR2 1 nsv6633 9 100348192 100382632 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8642 S 9 0 1 GABBR2 NA12156 esv996617 9 100348607 100351491 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586880 S 3 1 0 GABBR2 HuRef esv4244 9 100348790 100351626 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26685 S 1 0 1 Single Asian sample YH GABBR2 YH dgv1229n67 9 100348794 100351491 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825004,nsv825003,nsv825006,nsv825002,nsv825001,nsv825005 M 31 0 28 GABBR2 AK10,AK12,AK14,AK16,AK18,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18542,NA18547,NA18552,NA18564,NA18566,NA18570,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973,NA18999 nsv821298 9 100348794 100351491 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420819 S 1 0 1 GABBR2 NA10851 nsv515117 9 100348808 100350872 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628029 S 1414 0 1 GABBR2 esv21712 9 100348856 100350948 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20045 S 451 34 0 GABBR2 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 esv6610 9 100348858 100351481 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29051 S 1 0 1 GABBR2 SJK nsv499735 9 100348864 100351491 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586116 S 9 0 1 GABBR2 esv990637 9 100348936 100350948 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586648 S 3 1 0 GABBR2 HuRef dgv8264n71 9 100380137 100717857 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893615,nsv893614 M 6533 2 0 ANKS6,GABBR2,GALNT12 SP50996,SP53474 esv2476007 9 100386960 100388750 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369364 S 1 0 1 GABBR2 NA18507 nsv512109 9 100387013 100388142 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624667 S 1 0 1 GABBR2 1 esv2173122 9 100387737 100388320 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4842137 S 1 0 1 GABBR2 NA18507 nsv415863 9 100387807 100388137 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434441 M 24 GABBR2 esv1732633 9 100387807 100388138 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011761 S 2 0 1 GABBR2 HuRef esv6836 9 100387821 100388186 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29277 S 1 0 1 GABBR2 SJK nsv524087 9 100395445 100396484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699958 S 2026 0 1 GABBR2 nsv466440 9 100395445 100407829 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541984 S 1557 0 1 GABBR2 NINDS_69 nsv522461 9 100396336 100396484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705825 S 2026 0 1 GABBR2 nsv466441 9 100402654 100459653 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541985 S 1557 0 1 GABBR2 1780854419_A nsv893616 9 100410838 100512742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587048 S 6533 1 0 GABBR2 IS37986 nsv825007 9 100507669 100516113 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421586 S 31 1 0 GABBR2 NA18547 nsv819653 9 100509332 100512013 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419464 S 2 1 0 GABBR2 AK1 esv989098 9 100549612 100550326 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587131 S 3 0 1 ANKS6 HuRef nsv825009 9 100616235 100620158 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430736 S 31 0 1 GALNT12 AK16 nsv893617 9 100625813 100674537 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587049 S 6533 1 0 GALNT12 IS37986 nsv825010 9 100627084 100669990 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430737 S 31 1 0 GALNT12 AK16 nsv6634 9 100658137 100692025 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8643 S 9 1 0 "" NA12156 nsv6635 9 100768078 100813074 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8644 S 9 0 1 COL15A1 NA12156 esv270049 9 100777064 100777306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511838,essv2494309,essv2507212,essv2495723,essv2506895 M 157 5 0 Samples from several populations that are part of the HapMap project. COL15A1 NA18499,NA18502,NA18870,NA18916,NA19102 nsv528933 9 100824598 100828343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705624 S 2026 0 1 COL15A1 nsv466442 9 100828343 100856220 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541986 S 1557 0 1 COL15A1 NINDS_198 nsv893618 9 100839927 100925892 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584339 S 6533 1 0 COL15A1,TGFBR1 IS36973 nsv893619 9 100874986 100976052 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587050 S 6533 1 0 TGFBR1 IS37986 nsv831666 9 100914806 101058511 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447914,nssv1447915 M 95 2 0 ALG2,SEC61B,TGFBR1 nsv893620 9 101069612 101234742 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587051 S 6533 1 0 "" IS37986 nsv525784 9 101076734 101077791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701960 S 2026 0 1 "" nsv520193 9 101077791 101078864 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681753,nssv661590 M 2026 0 2 "" nsv526378 9 101084965 101095878 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702674 S 2026 1 0 "" nsv831667 9 101107868 101325512 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447916 S 95 1 0 "" esv269478 9 101187141 101187463 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493280,essv2504259,essv2494918,essv2505290,essv2507034,essv2496972 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18520,NA18853,NA19102,NA19190 esv25205 9 101226556 101230367 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18383 S 451 0 1 "" NA19129 nsv527165 9 101234742 101253990 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703559 S 2026 0 1 "" nsv6636 9 101237325 101282425 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8646 S 9 0 1 "" NA12156 nsv6637 9 101292919 101320083 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1793 S 9 1 0 "" NA18555 esv267400 9 101313336 101313693 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500919,essv2501517 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18856,NA19093 nsv6638 9 101350833 101385370 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2817 S 9 1 0 "" NA18555 nsv893621 9 101382771 101625366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587052 S 6533 1 0 NR4A3 IS37986 nsv522018 9 101408362 101426527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694119 S 2026 0 1 "" esv268740 9 101426742 101426874 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513177,essv2503435 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12716 nsv528025 9 101580207 101653493 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704554 S 2026 1 0 NR4A3 nsv893622 9 101583176 101635506 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518157 S 6533 0 1 NR4A3 SP57469 nsv831668 9 101607990 101787114 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447919,nssv1447918,nssv1447920 M 95 2 1 ERP44,LOC441461,NR4A3,STX17 esv1004519 9 101637690 101641218 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565441 S 3 1 0 NR4A3 HuRef nsv893623 9 101687857 102445018 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587053 S 6533 1 0 C9orf30,C9orf30-TMEFF1,ERP44,INVS,LOC441461,MURC,STX17,TEX10,TMEFF1 IS37986 nsv825011 9 101723963 101726548 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425142 S 31 0 1 STX17 AK2 esv268563 9 101826471 101826811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515746,essv2517970,essv2514013 M 157 3 0 Samples from several populations that are part of the HapMap project. ERP44 NA12815,NA12872,NA19143 esv2576011 9 101861741 101863121 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5177804 S 1 0 1 ERP44 NA18507 esv270328 9 101889092 101889428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2525941,essv2543844,essv2568195,essv2548452,essv2550724,essv2550345,essv2544477,essv2520145,essv2554927,essv2540067,essv2552555,essv2532429,essv2569505,essv2578850,essv2536879,essv2561535,essv2561081,essv2550982,essv2568874,essv2543614,essv2556315,essv2527871,essv2562197,essv2539404,essv2534064,essv2529489,essv2575493,essv2574977,essv2538767,essv2560569,essv2574880,essv2568611,essv2560220,essv2571365,essv2545781,essv2574301,essv2551414 M 157 37 0 Samples from several populations that are part of the HapMap project. ERP44 NA11918,NA11992,NA11995,NA12045,NA12155,NA12234,NA12414,NA12815,NA12872,NA18489,NA18502,NA18505,NA18508,NA18510,NA18517,NA18523,NA18562,NA18858,NA18861,NA18870,NA18871,NA18907,NA18909,NA18912,NA18916,NA19093,NA19099,NA19102,NA19108,NA19116,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272924 9 101889092 101889428 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581800,essv2582537,essv2582777,essv2584123,essv2584410,essv2583485 M 7 6 0 Samples from several populations that are part of the HapMap project. ERP44 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv507523 9 102108425 102114425 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621947,nssv623076,nssv620453 M 4 3 0 TEX10 NA10860,NA15510,NA18994 nsv825012 9 102192026 102296102 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439000 S 31 1 0 C9orf30,C9orf30-TMEFF1,TMEFF1 NA18973 esv270348 9 102263192 102263498 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565894,essv2531860,essv2577354,essv2519962,essv2537611,essv2528587,essv2538456,essv2543026,essv2524584,essv2564804,essv2561276,essv2522110,essv2565983,essv2567749,essv2578443,essv2566440,essv2574046,essv2534283,essv2575710,essv2526641,essv2525149 M 157 21 0 Samples from several populations that are part of the HapMap project. C9orf30-TMEFF1 NA07357,NA11829,NA12006,NA12043,NA12815,NA12878,NA12891,NA18547,NA18550,NA18555,NA18558,NA18562,NA18571,NA18572,NA18577,NA18940,NA18948,NA18951,NA18959,NA19099,NA19114 esv272263 9 102263199 102263282 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581990,essv2582627,essv2582982,essv2584032,essv2584840,essv2583345 M 7 6 0 Samples from several populations that are part of the HapMap project. C9orf30-TMEFF1 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv268508 9 102267799 102268090 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512551,essv2509807,essv2496420,essv2495565,essv2506898,essv2493865 M 157 6 0 Samples from several populations that are part of the HapMap project. C9orf30-TMEFF1 NA18489,NA18508,NA18510,NA18916,NA19102,NA19210 nsv6639 9 102323338 102352272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3733 S 9 1 0 C9orf30-TMEFF1,TMEFF1 NA12878 nsv893624 9 102391752 102456374 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584340 S 6533 1 0 "" IS36973 esv270340 9 102402437 102402675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540914,essv2521336,essv2536392,essv2525380,essv2535154,essv2552114,essv2520545,essv2564605,essv2577881,essv2559491,essv2576281,essv2519966,essv2563998,essv2530653,essv2557061,essv2536990,essv2556458,essv2562220,essv2575578,essv2549957,essv2551315,essv2547723 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11831,NA11894,NA11920,NA12156,NA12249,NA12489,NA12716,NA12751,NA12761,NA12776,NA12814,NA12815,NA12828,NA12873,NA18501,NA18517,NA18871,NA18909,NA19099,NA19225,NA19257 nsv518402 9 102465102 102468121 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695832 S 2026 1 0 "" nsv515570 9 102466123 102466417 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684432,nssv663614,nssv667931,nssv663934 M 2026 4 0 "" esv1496532 9 102469819 102469819 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4211966 S 2 1 0 "" HuRef nsv6640 9 102530648 102575474 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8647 S 9 0 1 "" NA12156 esv2492251 9 102608570 102610014 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5302985 S 1 0 1 "" NA18507 esv998995 9 102630186 102639864 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564198 S 3 0 1 "" HuRef nsv516284 9 102682598 102688663 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684060,nssv667334 M 2026 0 2 "" esv269890 9 102742690 102743034 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500375,essv2503331,essv2499975,essv2508294,essv2511370,essv2494396,essv2512706,essv2508405,essv2496092,essv2499217,essv2501555,essv2511107,essv2497873,essv2512286,essv2497379,essv2503714,essv2495984,essv2511516 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA18537,NA18542,NA18558,NA18561,NA18570,NA18572,NA18577,NA18582,NA18603,NA18605,NA18608,NA18944,NA18945,NA18949,NA18959,NA18960,NA18961 esv1710204 9 102742721 102742721 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3685436 S 2 1 0 "" HuRef nsv831669 9 102748946 102917943 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447921 S 95 1 0 LPPR1 nsv819136 9 102798420 102802634 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419612 S 2 1 0 "" AK1 esv24601 9 102800334 102802029 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17498 S 451 2 0 "" NA11894,NA18505 nsv825013 9 102800369 102801035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423581,nssv1440491 M 31 2 0 "" NA18564,NA18999 nsv893625 9 102806358 102887827 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587054 S 6533 1 0 LPPR1 IS37986 nsv831671 9 102897928 103060637 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447922 S 95 1 0 LPPR1 esv271824 9 102925193 102925278 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517242 S 157 1 0 Samples from several populations that are part of the HapMap project. LPPR1 NA18970 nsv466443 9 102934982 102963006 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541987 S 1557 0 1 LPPR1 1782681287_A esv269666 9 103087312 103087663 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513437,essv2510414 M 157 2 0 Samples from several populations that are part of the HapMap project. LPPR1 NA18907,NA19172 nsv6641 9 103145700 103167204 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5172 S 9 1 0 BAAT NA19129 nsv509314 9 103156711 103170617 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619557 S 4 1 0 BAAT NA10860 nsv893626 9 103212757 103364366 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1520316 S 6533 0 1 ALDOB,C9orf125,RNF20,ZNF189 SP50822 esv259674 9 103221838 103222360 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398614,essv2396772,essv2400206,essv2399033,essv2395851,essv2394466,essv2399400,essv2397983,essv2399747,essv2396425,essv2398111 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA10851,NA11830,NA12045,NA12287,NA12751,NA12828,NA19138,NA19172 nsv523287 9 103231213 103242624 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699026 S 2026 0 1 ALDOB esv1772576 9 103249812 103249812 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4167573 S 2 1 0 "" HuRef esv2651786 9 103258982 103260583 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312361 S 1 0 1 "" NA18507 nsv512110 9 103259232 103260367 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624668 S 1 0 1 "" 1 esv1956616 9 103259356 103260388 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4593015 S 1 0 1 "" NA18507 esv4410 9 103259492 103260299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26851 S 1 0 1 Single Asian sample YH "" YH nsv415685 9 103259521 103260203 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434263 M 24 "" esv9164 9 103259521 103260272 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31605 S 1 0 1 "" SJK esv28243 9 103262539 103263685 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12169 S 451 0 1 "" NA19147 esv1273534 9 103263711 103263711 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4018653 S 2 1 0 "" HuRef esv2623923 9 103296361 103298702 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290507 S 1 0 1 "" NA18507 esv1282692 9 103297330 103297330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3827415 S 2 1 0 "" HuRef nsv893627 9 103308163 103374154 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507434 S 6533 0 1 GRIN3A,RNF20 SP54626 nsv831672 9 103340576 103520670 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447923 S 95 1 0 GRIN3A,PPP3R2,RNF20 nsv527229 9 103410858 103411557 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703629 S 2026 0 1 GRIN3A nsv6642 9 103425780 103438558 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8648 S 9 0 1 GRIN3A NA12156 nsv415939 9 103461462 103461519 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434517 M 24 GRIN3A esv1003325 9 103481134 103487042 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564176 S 3 0 1 GRIN3A HuRef esv2606620 9 103483473 103485339 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259752 S 1 0 1 GRIN3A NA18507 nsv512111 9 103483544 103484680 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624669 S 1 0 1 GRIN3A 1 esv1995711 9 103483604 103484752 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4760379 S 1 0 1 GRIN3A NA18507 esv3164 9 103483766 103484602 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25605 S 1 0 1 Single Asian sample YH GRIN3A YH dgv266n6 9 103483783 103484566 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv415664,nsv415719 M 24 GRIN3A esv5546 9 103483791 103484557 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27987 S 1 0 1 GRIN3A SJK esv991727 9 103483792 103484557 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567137 S 3 0 1 GRIN3A HuRef esv1035979 9 103483800 103484566 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721245 S 2 0 1 GRIN3A HuRef esv26854 9 103536574 103538041 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14432 S 451 0 2 GRIN3A NA12749,NA12776 nsv893628 9 103595137 103689472 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1561193 S 6533 0 1 "" MS24873 dgv8265n71 9 103603032 103645383 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893629,nsv893630 M 6533 0 2 "" IS30171,MS20630 esv270641 9 103605167 103605476 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494182,essv2509855,essv2506277,essv2505268,essv2509465,essv2502123 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18508,NA18523,NA18853,NA19129,NA19257 nsv893631 9 103606293 103713366 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587055 S 6533 1 0 "" IS37986 nsv516211 9 103615851 103624285 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685506,nssv666841 M 2026 0 2 "" essv25191 9 103677771 103762509 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA11840 dgv2397e1 9 103677771 103865380 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv577,essv16368 M 271 0 0 "" NA19193 essv19715 9 103681214 103804705 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12236 nsv893632 9 103682787 103779601 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535993 S 6533 0 1 "" MS12577 nsv893633 9 103682787 103942695 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1540654 S 6533 0 1 "" MS14947 nsv521116 9 103682787 103944275 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688920,nssv700677,nssv682410,nssv699204 M 2026 1 3 "" essv17411 9 103719607 103788681 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12760 nsv8551 9 103723535 103727731 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16549 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv6644 9 103745823 103784514 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10677,nssv3734,nssv1794 M 9 0 3 "" NA12878,NA18555,NA18956 dgv2398e1 9 103748827 103782789 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3846,essv2753,essv4541,essv2401,essv2137,essv5975,essv500,essv7054,essv3626,essv6512,essv18873,essv21107,essv6471,essv18025,essv19135,essv19360,essv5960,essv5009,essv21635,essv994,essv4214 M 271 0 0 "" NA07019,NA07029,NA10854,NA12761,NA12812,NA12878,NA18552,NA18566,NA18571,NA18572,NA18577,NA18609,NA18612,NA18637,NA18952,NA18953,NA18964,NA18966,NA18976,NA18978,NA19000 nsv8552 9 103748854 103752432 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16451,nssv20563 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA12872,NA18504 nsv8553 9 103749972 103766305 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18576,nssv18318,nssv17574,nssv16780,nssv18226,nssv18813,nssv16579,nssv17552,nssv17884,nssv19298 M 31 0 10 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA10839,NA10863,NA12155,NA12802,NA18552,NA18564,NA18572,NA18975 dgv2399e1 9 103749984 103762509 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1057,essv4316,essv21614,essv6853,essv7236,essv18534,essv21472,essv23294 M 271 0 0 "" NA07348,NA10830,NA12006,NA12763,NA18558,NA18564,NA18635,NA18975 dgv2400e1 9 103749984 103796639 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21747,essv20552,essv20841,essv24633,essv6097,essv3246,essv24108,essv22799,essv23631,essv24621,essv3606 M 271 0 0 "" NA07048,NA07055,NA10846,NA10861,NA11829,NA11995,NA12753,NA12875,NA18573,NA18967,NA18969 dgv2401e1 9 103749984 103822534 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv179,essv5869,essv6485,essv3677,essv18002 M 271 0 0 "" NA12005,NA18555,NA18636,NA18943,NA18994 nsv825014 9 103752223 103763501 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434341 S 31 0 1 "" NA18592 esv993600 9 103753434 103764630 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564474 S 3 0 1 "" HuRef esv29799 9 103754558 103764248 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15673 S 451 0 8 "" NA11894,NA11995,NA12006,NA12044,NA12287,NA12749,NA12776,NA12878 esv5148 9 103754632 103764458 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27589 S 1 0 1 Single Asian sample YH "" YH nsv499457 9 103754664 103764306 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586117 S 9 0 1 "" dgv196e180 9 103754746 103764248 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv990709,esv1006073 M 3 0 1 "" HuRef esv2421815 9 103754749 103762240 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5082243,essv5009775,essv5107089,essv5089711,essv5116904,essv5037009,essv5132771,essv5092149,essv5118530,essv5051314,essv5093046,essv5117664,essv5074581,essv5005730,essv5129514,essv5139414,essv5066618,essv5070742,essv5036470,essv5108589,essv5097270,essv5055548,essv5123661,essv5135901,essv5106363,essv5049022,essv5137507,essv5156975,essv5055090,essv5054919,essv5066813,essv5090785,essv5109523,essv5144379,essv5073858,essv5042878,essv5034080,essv5113430,essv5149739,essv5073869,essv5089642,essv5116026,essv5004020,essv5134050,essv5154562,essv5031255,essv5047977,essv5056019,essv5121133,essv5113486,essv5056423,essv5093560,essv5110539,essv5048677,essv5104795,essv5110041,essv5029084,essv5110610,essv5051186,essv5118340,essv5092722,essv5042969,essv5007034,essv5066484,essv5009974,essv5008892,essv5126842,essv5031069,essv5039222,essv5075125,essv5133989,essv5129235,essv5152715,essv5149371,essv5002667,essv5077620,essv5156430,essv5096480,essv5078036,essv5086236,essv5014173,essv5136260,essv5020118,essv5077438,essv5026845,essv5080749,essv5115999,essv5002161,essv5141714,essv5129631,essv5095893,essv5065905,essv5065987,essv5150593,essv5106156,essv5028731,essv5040559,essv5009013,essv5090283,essv5089811,essv5078817,essv5091106,essv5008115,essv5108669,essv5023547,essv5053070,essv5150963,essv5011686,essv5110369,essv5148920,essv5007721,essv5153857,essv5079449,essv5068661,essv5156051,essv5014863,essv5024260,essv5053241,essv5023024,essv5034653,essv5124479,essv5015999,essv5097523,essv5026871,essv5005188,essv5117295,essv5109182,essv5157508,essv5144090,essv5154506,essv5148644,essv5089012,essv5133753,essv5003969,essv5118950,essv5014887,essv5032427,essv5101378,essv5112595,essv5146096,essv5083781,essv5121913,essv5116657,essv5058493,essv5139081,essv5002587,essv5091240,essv5046167,essv5126874,essv5141295,essv5130972,essv5032375,essv5056504,essv5144840,essv5141646,essv5029483,essv5117839,essv5122513,essv5149624,essv5024905,essv5031075,essv5098264,essv5039449,essv5079126,essv5111993,essv5060497,essv5062597,essv5012117,essv5158910,essv5112934,essv5017244,essv5057790,essv5067693,essv5039102,essv5144309,essv5025198,essv5063969,essv5160439,essv5146607,essv5067583,essv5044843,essv5128991,essv5125372,essv5010217,essv5139297,essv5150556,essv5119204,essv5017868,essv5139293,essv5057863,essv5086050,essv5005370,essv5143441,essv5123460,essv5157722,essv5115931,essv5136059,essv5053011,essv5128523,essv5030827,essv5053692,essv5065820,essv5157038,essv5119456,essv5056827,essv5013829,essv5113097,essv5004185,essv5103651,essv5019793,essv5094170,essv5031050,essv5136895,essv5034122,essv5098136,essv5041463,essv5119102,essv5117868,essv5128250,essv5055400,essv5127824,essv5078845,essv5141380,essv5020909,essv5045898,essv5120344,essv5154278,essv5067241,essv5160555,essv5108207,essv5078612,essv5003344,essv5064101,essv5104725,essv5072349,essv5082746 M 1184 0 236 "" NA06994,NA07029,NA07055,NA07056,NA07345,NA07346,NA07347,NA07348,NA10830,NA10839,NA10843,NA10845,NA10846,NA10852,NA10853,NA10854,NA10859,NA10861,NA10863,NA10864,NA10865,NA11829,NA11839,NA11840,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11920,NA11930,NA11992,NA11995,NA12005,NA12006,NA12044,NA12045,NA12145,NA12155,NA12264,NA12287,NA12348,NA12399,NA12400,NA12489,NA12718,NA12739,NA12749,NA12753,NA12760,NA12761,NA12763,NA12766,NA12776,NA12802,NA12812,NA12814,NA12829,NA12830,NA12875,NA12877,NA12878,NA12889,NA12892,NA17966,NA17972,NA17975,NA17977,NA17990,NA17993,NA18105,NA18117,NA18120,NA18122,NA18124,NA18127,NA18128,NA18129,NA18131,NA18132,NA18135,NA18136,NA18138,NA18139,NA18140,NA18141,NA18146,NA18149,NA18152,NA18153,NA18158,NA18160,NA18161,NA18162,NA18166,NA18526,NA18534,NA18536,NA18544,NA18548,NA18552,NA18555,NA18558,NA18559,NA18564,NA18566,NA18571,NA18572,NA18573,NA18577,NA18579,NA18596,NA18597,NA18609,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18621,NA18626,NA18627,NA18634,NA18635,NA18636,NA18637,NA18670,NA18685,NA18689,NA18702,NA18704,NA18740,NA18749,NA18757,NA18939,NA18943,NA18944,NA18948,NA18952,NA18953,NA18956,NA18957,NA18961,NA18964,NA18966,NA18967,NA18969,NA18975,NA18976,NA18978,NA18994,NA18998,NA19000,NA19001,NA19002,NA19010,NA19054,NA19057,NA19058,NA19059,NA19064,NA19065,NA19066,NA19067,NA19070,NA19076,NA19078,NA19079,NA19083,NA19085,NA19654,NA19656,NA19661,NA19675,NA19678,NA19682,NA19685,NA19686,NA19701,NA19720,NA19721,NA19723,NA19725,NA19726,NA19727,NA19746,NA19748,NA19770,NA19774,NA19775,NA19777,NA20288,NA20294,NA20295,NA20356,NA20520,NA20521,NA20522,NA20528,NA20535,NA20539,NA20541,NA20542,NA20543,NA20544,NA20758,NA20765,NA20769,NA20770,NA20773,NA20785,NA20803,NA20805,NA20808,NA20811,NA20812,NA20813,NA20816,NA20819,NA20849,NA20853,NA20858,NA20882,NA20884,NA20898,NA20904,NA21088,NA21097,NA21103,NA21107,NA21109,NA21647,NA21648,NA21768 dgv1230n67 9 103755765 103763895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825016,nsv825020,nsv825015,nsv825018,nsv825017 M 31 0 8 "" AK12,AK6,NA18526,NA18547,NA18552,NA18564,NA18566,NA18969 nsv515118 9 103756512 103763752 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628030 S 1414 0 1 "" dgv2402e1 9 103756781 103762509 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3444,essv20877,essv5654,essv626,essv21597,essv19726,essv2720,essv7632,essv20979,essv6077,essv23312,essv20453,essv1535,essv22268,essv25110,essv733,essv24342,essv24197,essv25154,essv3325,essv25070,essv5624,essv1656,essv20694,essv19115 M 271 0 0 "" NA06994,NA07056,NA10839,NA10859,NA10863,NA11839,NA11992,NA12044,NA12145,NA12155,NA12264,NA12802,NA12814,NA12892,NA18526,NA18547,NA18579,NA18621,NA18944,NA18948,NA18956,NA18961,NA18998,NA19003,NA19012 nsv821666 9 103758379 103759879 CNV Loss Sebat_et_al_2004 15273396 ROMA Custom Nimblegen photoprint 85000 probe ROMA oligo array nssv1421240 S 31 0 1 "" esv2422433 9 103776650 103918626 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161477 S 181 0 1 "" ND04275 nsv893634 9 103794653 103982007 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587056 S 6533 1 0 "" IS37986 nsv893635 9 103829394 104030215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591740 S 6533 0 1 "" IS39011 esv2365756 9 103831440 103831832 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927592 S 1 0 1 "" NA18507 nsv831673 9 103839005 103978097 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447925,nssv1447924,nssv1447926 M 95 1 2 "" nsv466444 9 103851547 103880340 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541988 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00417 nsv893636 9 103857420 103961533 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554887,nssv1548913,nssv1561137,nssv1551434 M 6533 0 4 "" MS17911,MS18876,MS21071,MS24865 nsv8554 9 103862590 103917723 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16609,nssv17062 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18572,NA18942 nsv831674 9 103867540 104051011 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447927 S 95 0 1 "" dgv941n27 9 103877357 103898634 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466446,nsv466445 M 1557 0 2 "" 1780862530_A,HGDP01237 dgv2403e1 9 103879178 103923657 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6506,esv1185 M 271 0 0 "" NA18572 esv2752272 9 103879178 104001681 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984873,essv6984874,essv6989459,essv6990035 M 771 0 1 "" SPC_188 dgv8266n71 9 103889498 103980650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893639,nsv893641,nsv893640,nsv893638,nsv893637 M 6533 0 9 "" IS30522,IS31205,IS31445,IS33533,IS41068,IS41113,MS10287,MS23486,SP51145 nsv438110 9 103893268 103903617 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470107 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18572 nsv466448 9 103942695 103982007 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541991 S 1557 0 1 "" NINDS_145 nsv520809 9 103944053 103961533 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697624 S 2026 0 1 "" nsv893642 9 103944275 104197853 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587679 S 6533 0 1 "" IS38094 nsv893643 9 103966699 103999273 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577257 S 6533 0 1 "" IS34400 nsv893644 9 103966699 104030215 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597469 S 6533 0 1 "" IS40950 nsv6645 9 103976406 104007606 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6288 S 9 1 0 "" NA12156 nsv466449 9 103977934 104017374 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541992 S 1557 0 1 "" NINDS_211 nsv521084 9 103977934 104017374 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693683,nssv700775,nssv681543,nssv692479 M 2026 0 4 "" nsv507524 9 103993473 103999473 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623077,nssv620454,nssv617796 M 4 3 0 "" CHM,NA15510,NA18994 nsv825021 9 104029464 104030044 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433805 S 31 0 1 "" NA18526 dgv8267n71 9 104031910 104086747 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893645,nsv893646 M 6533 0 4 "" MS10195,MS12684,MS12859,MS19276 nsv831675 9 104053655 104224482 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447929 S 95 0 1 "" nsv526397 9 104058901 104064589 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702696 S 2026 0 1 "" nsv893647 9 104086747 104164653 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1545841 S 6533 0 1 "" MS16981 nsv523870 9 104095407 104098242 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699711 S 2026 0 1 "" esv268576 9 104113437 104116580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510105,essv2504479,essv2505090,essv2502894,essv2502540,essv2507751,essv2503773,essv2496839,essv2510603,essv2504160,essv2493671,essv2509020,essv2506290,essv2498361,essv2508750,essv2503290,essv2494625,essv2497219,essv2500033,essv2508259,essv2504508,essv2507823,essv2506339,essv2511333,essv2500632,essv2494471,essv2500131,essv2507680,essv2512723,essv2508626,essv2510056,essv2501573,essv2512887,essv2507531,essv2505380,essv2498436,essv2511704,essv2504956,essv2503166,essv2511079,essv2503486,essv2502460,essv2493017,essv2505461,essv2500523,essv2502665,essv2505667,essv2506668,essv2509417,essv2498887,essv2497562,essv2496962,essv2493837,essv2512126,essv2498012 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA11829,NA11993,NA11995,NA12156,NA12750,NA12751,NA12761,NA18498,NA18501,NA18505,NA18517,NA18522,NA18523,NA18526,NA18532,NA18542,NA18550,NA18552,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18592,NA18593,NA18608,NA18609,NA18638,NA18853,NA18858,NA18940,NA18942,NA18943,NA18944,NA18947,NA18948,NA18951,NA18952,NA18956,NA18965,NA19005,NA19108,NA19129,NA19138,NA19147,NA19190,NA19210,NA19238,NA19240 esv273981 9 104113453 104116514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580575,essv2579757 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv893648 9 104114477 104174876 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1526922 S 6533 0 1 "" SP57965 nsv466451 9 104117221 104167529 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541994 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00003 nsv524901 9 104164653 104167529 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700911 S 2026 1 0 "" esv1389498 9 104166010 104166010 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042321 S 2 1 0 "" HuRef nsv526618 9 104174962 104178727 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702938 S 2026 0 1 "" esv2263190 9 104202124 104202683 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648455 S 1 0 1 "" NA18507 esv5305 9 104202201 104202604 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27746 S 1 0 1 Single Asian sample YH "" YH nsv893649 9 104238371 104297858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532264 S 6533 0 1 "" MS10737 nsv893650 9 104238371 104331858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598368 S 6533 0 1 "" IS41113 nsv528230 9 104258777 104261484 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704792 S 2026 0 1 "" nsv520177 9 104258777 104276991 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697265 S 2026 0 1 "" esv270751 9 104318424 104318777 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496433,essv2501351,essv2499625 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA19093,NA19225 esv22528 9 104366769 104367994 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12243 S 451 3 0 "" NA06985,NA12287,NA18508 nsv436686 9 104367524 104368108 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466546 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436716 9 104369309 104372280 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466547 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv893651 9 104411633 104507626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568607 S 6533 0 1 "" IS31317 esv270246 9 104419390 104419573 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510677,essv2494349,essv2496225 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18511 nsv893652 9 104440630 104514205 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587057 S 6533 1 0 "" IS37986 esv259514 9 104460934 104461220 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394105,essv2393893,essv2393762 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv260006 9 104460965 104461239 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397587,essv2397353,essv2401092,essv2397612,essv2395628,essv2394701,essv2396456,essv2395971 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA12878,NA12891,NA18489,NA18501,NA18870,NA19138,NA19238 esv1001423 9 104461036 104461036 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570807 S 3 1 0 "" HuRef esv1005734 9 104478914 104485875 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565722 S 3 0 1 "" HuRef esv269941 9 104490408 104490725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557795,essv2565795,essv2540981,essv2571834,essv2546224,essv2521280,essv2536517,essv2544008,essv2523218,essv2577576,essv2548360,essv2521790,essv2525428,essv2554250,essv2576265,essv2520173,essv2530871,essv2537525,essv2528364,essv2547036,essv2530494,essv2557057,essv2552374,essv2550202,essv2538926,essv2561427,essv2544949,essv2523585,essv2552816,essv2541205,essv2538463,essv2524733,essv2534578,essv2539628,essv2549130,essv2559937,essv2530946,essv2532876,essv2567852,essv2541680,essv2570176,essv2563599,essv2572211,essv2559176,essv2551115,essv2569092,essv2527746,essv2533830,essv2566543,essv2574059,essv2557626,essv2534262,essv2573470,essv2543051,essv2572056,essv2526820,essv2529501,essv2538487,essv2560888,essv2574659,essv2560293,essv2548129,essv2571133,essv2545723,essv2574104,essv2537738 M 157 66 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA10851,NA11829,NA11831,NA11840,NA11881,NA11894,NA11920,NA11992,NA12004,NA12043,NA12045,NA12144,NA12156,NA12287,NA12814,NA12815,NA12873,NA12878,NA12891,NA12892,NA18486,NA18501,NA18502,NA18511,NA18519,NA18523,NA18526,NA18537,NA18542,NA18545,NA18547,NA18555,NA18561,NA18563,NA18564,NA18570,NA18573,NA18576,NA18577,NA18592,NA18593,NA18603,NA18609,NA18638,NA18858,NA18861,NA18907,NA18916,NA18948,NA18951,NA18953,NA18959,NA18964,NA18965,NA18973,NA19005,NA19093,NA19108,NA19137,NA19138,NA19190,NA19210,NA19238,NA19239,NA19240 esv273374 9 104490408 104490725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584184,essv2584475,essv2583564 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv524599 9 104495245 104504375 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700560 S 2026 0 1 "" esv267716 9 104533957 104534107 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2507979,essv2512437,essv2504038,essv2496452,essv2501124,essv2509091,essv2507226,essv2513487,essv2509221,essv2499094,essv2510883,essv2497467,essv2493867,essv2499785 M 157 14 0 Samples from several populations that are part of the HapMap project. "" NA12003,NA12043,NA18505,NA18510,NA18516,NA18522,NA18870,NA18907,NA18909,NA19114,NA19116,NA19147,NA19210,NA19225 nsv6646 9 104539149 104570537 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5173 S 9 1 0 "" NA19129 nsv518976 9 104542958 104543527 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696444 S 2026 0 1 "" nsv525658 9 104543527 104543598 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701813 S 2026 0 1 "" nsv893653 9 104582355 104643581 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587058 S 6533 1 0 "" IS37986 dgv942n27 9 104586314 104633201 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466454,nsv466453 M 1557 0 2 "" NINDS_142,NINDS_147 nsv893654 9 104588773 104633201 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597553 S 6533 0 1 "" IS41292 nsv893655 9 104623747 104660624 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584341 S 6533 1 0 "" IS36973 esv1990109 9 104633865 104634317 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4723515 S 1 0 1 "" NA18507 esv4447 9 104633989 104634208 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26888 S 1 0 1 Single Asian sample YH "" YH esv1107502 9 104634039 104634039 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4280321 S 2 1 0 "" HuRef nsv415353 9 104634040 104634040 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433931 M 24 "" nsv6647 9 104652163 104697697 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6290 S 9 0 1 "" NA12156 nsv893656 9 104665220 104893043 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587059 S 6533 1 0 CYLC2 IS37986 nsv507525 9 104674131 104680131 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620455 S 4 1 0 "" NA15510 nsv893657 9 104744490 104877408 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580117 S 6533 0 1 CYLC2 IS35229 nsv466455 9 104747805 105039017 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541997 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CYLC2 HGDP00533 nsv516844 9 104757911 105039017 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654396,nssv699852,nssv682089,nssv706068,nssv694078,nssv695702,nssv695601 M 2026 5 2 CYLC2 nsv893658 9 104798298 104865043 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1517757 S 6533 0 1 CYLC2 SP57367 esv21750 9 104815539 104818297 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13253 S 451 2 0 CYLC2 NA12156,NA12749 esv2530008 9 104816368 104819171 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175875 S 1 0 1 CYLC2 NA18507 esv4412 9 104816750 104816994 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26853 S 1 0 1 Single Asian sample YH CYLC2 YH nsv415530 9 104816788 104816867 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434108 M 24 CYLC2 nsv416206 9 104817182 104817256 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434784 M 24 CYLC2 esv259649 9 104873918 104874224 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394139,essv2393947,essv2393668 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238 esv1645474 9 104874087 104874087 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036855 S 2 1 0 "" HuRef nsv416586 9 104874158 104874158 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435164 M 24 "" nsv893659 9 104898703 104962259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599866 S 6533 0 1 "" IS41803 nsv6648 9 104899777 104944499 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8649 S 9 0 1 "" NA12156 nsv471312 9 104908473 104955369 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545871 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00649 esv259666 9 104919846 104920733 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393665 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv416783 9 104976120 104976169 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435361 M 24 "" dgv8268n71 9 104982210 105116091 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893660,nsv893661,nsv893662 M 6533 3 0 "" IS37986,MS18176,MS22848 nsv466456 9 104996744 105019045 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541998 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01268 esv29102 9 105008436 105029176 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21203 S 451 1 0 "" NA18502 nsv442161 9 105010731 105023627 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818714 9 105014575 105023601 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416955,nssv1416954 M 112 2 0 "" NA19137,NA19139 nsv825022 9 105039186 105044053 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436826 S 31 0 1 "" NA18542 nsv893663 9 105119391 105146211 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584342 S 6533 1 0 "" IS36973 nsv893664 9 105121200 105158289 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1569727 S 6533 0 1 "" IS31679 nsv526470 9 105127173 105141829 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702774 S 2026 1 0 "" esv275177 9 105142973 105152012 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586007 S 1250 0 1 "" esv2476270 9 105171770 105173249 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5315139 S 1 0 1 "" NA18507 esv2204612 9 105172183 105172893 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4933244 S 1 0 1 "" NA18507 esv274958 9 105193084 105199157 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585472,essv2585144 M 1250 1 1 "" nsv893665 9 105220871 105440699 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574594 S 6533 0 1 "" IS33601 nsv466457 9 105278746 105344074 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv541999 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00599 esv274445 9 105283937 105284255 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580375,essv2579870 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12891,NA12892 esv269789 9 105283972 105284300 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544004,essv2550693,essv2525458,essv2535387,essv2528436,essv2546957,essv2552655,essv2534640,essv2549335,essv2565955,essv2529015,essv2541624,essv2535548,essv2559367,essv2543507,essv2533647,essv2534205,essv2573644,essv2574586 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA11992,NA12155,NA12156,NA12249,NA12891,NA12892,NA18502,NA18561,NA18564,NA18572,NA18579,NA18592,NA18608,NA18638,NA18870,NA18944,NA18959,NA18964,NA19138 nsv893666 9 105329248 105451874 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587061 S 6533 1 0 "" IS37986 esv271428 9 105361726 105361850 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510190,essv2511360,essv2500702 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA18570,NA18571 nsv512112 9 105368361 105372931 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624670 S 1 0 1 "" 1 esv274668 9 105394216 105394585 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579208 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 dgv491n21 9 105418289 105429508 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv518496,nsv525034 M 2026 0 2 "" nsv466458 9 105418289 105429508 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542000 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01279 esv1561450 9 105421979 105421979 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4172174 S 2 1 0 "" HuRef nsv516454 9 105440699 105471313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656222,nssv672167,nssv689254,nssv673958,nssv668501 M 2026 0 5 "" esv2646361 9 105441756 105443200 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375702 S 1 0 1 "" NA18507 nsv466459 9 105517317 105599038 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542001 S 1557 0 1 "" 1782681096_A nsv893667 9 105547636 105699196 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587062 S 6533 1 0 "" IS37986 esv993923 9 105563348 105569610 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564727 S 3 0 1 "" HuRef esv1003633 9 105601741 105612991 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564139 S 3 0 1 "" HuRef esv2522156 9 105607328 105609971 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343087 S 1 0 1 "" NA18507 nsv819984 9 105607533 105610027 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419435 S 2 1 0 "" AK1 nsv825023 9 105607677 105610150 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440493,nssv1430738,nssv1434558,nssv1433806,nssv1428237,nssv1431473,nssv1422761,nssv1421882,nssv1434352,nssv1425942,nssv1423583 M 31 0 11 "" AK16,AK18,AK4,NA18526,NA18552,NA18564,NA18570,NA18592,NA18947,NA18997,NA18999 nsv821174 9 105607747 105609997 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420820 S 1 0 1 "" NA10851 dgv197e180 9 105607910 105609248 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1005016,esv988706 M 3 0 1 "" HuRef nsv825024 9 105607910 105609248 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427653 S 31 0 1 "" AK8 esv1932002 9 105607953 105609685 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977575 S 1 0 1 "" NA18507 esv8890 9 105608091 105609547 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31331 S 1 0 1 "" SJK esv23180 9 105608155 105609556 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10757 S 451 12 2 "" NA11894,NA11995,NA12004,NA12006,NA12156,NA12239,NA12749,NA18505,NA18517,NA19114,NA19147,NA19190,NA19225,NA19257 nsv508557 9 105615171 105648541 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618858 S 4 0 1 "" NA10860 esv270408 9 105642433 105645339 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493186,essv2502933,essv2509062,essv2506009,essv2500882,essv2505952,essv2509285,essv2504674,essv2506973,essv2499057,essv2502202 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18507,NA18522,NA18523,NA18856,NA18861,NA18909,NA19099,NA19102,NA19114,NA19257 esv271998 9 105644191 105644669 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493194,essv2502179 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA19257 esv2560496 9 105653507 105654876 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5208423 S 1 0 1 "" NA18507 nsv518462 9 105667776 105676854 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695899 S 2026 0 1 "" nsv831676 9 105703296 105914278 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447930 S 95 1 0 SMC2 esv2230234 9 105727206 105727620 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4525751 S 1 0 1 "" NA18507 nsv416629 9 105755504 105755631 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435207 M 24 "" nsv893668 9 105792183 106066633 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587063 S 6533 1 0 SMC2 IS37986 nsv437090 9 105818628 105828202 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466971 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 nsv8555 9 105819855 105827301 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17914 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA10839 esv22334 9 105820358 105827227 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20015 S 451 0 1 "" NA12006 dgv2404e1 9 105853286 105880227 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv989,essv8902 M 271 0 0 "" NA19171 nsv516897 9 105853286 105890672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681136,nssv690026,nssv661459,nssv654743,nssv673263 M 2026 0 5 "" nsv818715 9 105853286 105890672 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416577 S 112 0 1 "" NA19171 esv26670 9 105896523 105897003 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9807 S 451 0 1 SMC2 NA19114 nsv6649 9 106008365 106031026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3735 S 9 1 0 "" NA12878 nsv893669 9 106154106 106267435 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582748 S 6533 0 1 "" IS36131 nsv893670 9 106154106 106381076 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553381 S 6533 0 1 OR13C3,OR13C4,OR13C8,OR13F1 MS20009 nsv466462 9 106320389 106340433 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542003 S 1557 0 1 OR13C3,OR13C4 1780854566_A nsv831677 9 106321399 106490160 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447931 S 95 1 0 OR13C2,OR13C3,OR13C4,OR13C5,OR13C8,OR13C9 nsv893671 9 106329947 106430098 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584343 S 6533 1 0 OR13C2,OR13C3,OR13C5,OR13C8,OR13C9 IS36973 dgv492n21 9 106331822 106333842 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527720,nsv527377 M 2026 0 2 "" nsv471313 9 106381076 106430097 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545872 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations OR13C2,OR13C5,OR13C9 HGDP00875 nsv517609 9 106389461 106404403 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658779,nssv693082,nssv698453,nssv666808,nssv658217,nssv667016,nssv653399,nssv678114,nssv689781,nssv675743,nssv684726,nssv667763,nssv689228,nssv652498,nssv663914,nssv693000,nssv689300,nssv675656,nssv678656,nssv699019,nssv656424,nssv691433,nssv661890,nssv685718,nssv684586,nssv673743,nssv663996,nssv675893,nssv664075,nssv661733,nssv679290,nssv687339,nssv672821,nssv679458,nssv668827,nssv682077,nssv670503,nssv652679,nssv680477 M 2026 1 38 OR13C5 dgv2405e1 9 106399623 106412399 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7877,essv3655,essv17225,essv959,essv11358,essv15448,essv1719 M 271 0 0 OR13C2,OR13C5 NA18857,NA18858,NA18968,NA18981,NA18991,NA19140,NA19206 dgv2406e1 9 106399623 106424215 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1239,essv14251 M 271 0 0 OR13C2,OR13C5,OR13C9 NA19100 dgv2407e1 9 106399787 106405940 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13995,essv12426,essv15957,essv2129,essv8910,essv3424 M 271 0 0 OR13C5 NA18956,NA18978,NA19098,NA19142,NA19152,NA19171 nsv436624 9 106399811 106409144 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466548 S 2 0 1 Samples from several populations that are part of the HapMap project. OR13C2,OR13C5 NA18505 nsv8556 9 106400487 106409870 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21111,nssv18839 M 31 0 2 Samples from several populations that are part of the HapMap project. OR13C2,OR13C5 NA18860,NA19173 esv2546770 9 106400658 106408003 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162700 S 1 0 1 OR13C2,OR13C5 NA18507 nsv825025 9 106401359 106406689 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427896 S 31 0 1 OR13C5 NA18968 dgv150n17 9 106401420 106410485 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis nsv437648,nsv437649 M 60 0 2 OR13C2,OR13C5 NA19154,NA19205 esv22412 9 106401430 106409145 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12630 S 451 0 1 OR13C2,OR13C5 NA18858 esv2421682 9 106401463 106406604 OTHER Complex Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5070646,essv5102247,essv5147145,essv5149934,essv5026491,essv5057885,essv5062893,essv5051887,essv5155246,essv5057277,essv5014347,essv5059566,essv5060396,essv5153911,essv5146431,essv5114738,essv5064399,essv5097116,essv5145392,essv5001932,essv5015783,essv5077817,essv5044127,essv5071155,essv5109992,essv5110737,essv5047501,essv5123850,essv5048200,essv5103385,essv5042247,essv5044666,essv5139226,essv5068334,essv5139960,essv5137977,essv5003182,essv5126529,essv5036673,essv5101189,essv5142658,essv5076308,essv5060303,essv5146739,essv5143676,essv5106535,essv5111196,essv5091053,essv5070705,essv5071199,essv5056342,essv5114409,essv5013356,essv5149231,essv5057054,essv5133456,essv5070283,essv5056263,essv5044049,essv5061970,essv5035234,essv5111941,essv5141289,essv5080480,essv5157875,essv5120078,essv5049611,essv5146199,essv5128177,essv5049044,essv5109785,essv5038048 M 1184 9 63 OR13C5 NA18484,NA18486,NA18857,NA18858,NA18860,NA18923,NA18934,NA18956,NA18968,NA18978,NA18981,NA18991,NA19035,NA19098,NA19122,NA19130,NA19140,NA19142,NA19152,NA19154,NA19171,NA19173,NA19179,NA19182,NA19183,NA19197,NA19199,NA19200,NA19202,NA19206,NA19236,NA19237,NA19256,NA19307,NA19371,NA19399,NA19428,NA19431,NA19438,NA19443,NA19449,NA19470,NA19472,NA19909,NA19917,NA19919,NA20127,NA20128,NA20284,NA20301,NA20332,NA20333,NA21339,NA21359,NA21361,NA21381,NA21388,NA21389,NA21402,NA21438,NA21439,NA21476,NA21477,NA21491,NA21521,NA21523,NA21583,NA21634,NA21636,NA21716,NA21717,NA21776 dgv120e19 9 106401819 106408852 CNV Loss Ahn et al 2009 19470904 Sequencing esv6154,esv9049 M 1 0 1 OR13C2 SJK dgv2408e1 9 106403671 106412310 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12121,essv15904,essv8716 M 271 0 0 OR13C2 NA19173,NA19200,NA19205 nsv515119 9 106403792 106406544 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628031 S 1414 0 1 "" nsv442561 9 106403809 106406604 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv818716 9 106404242 106404403 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417603,nssv1415906,nssv1415917,nssv1416579,nssv1416578 M 112 0 5 "" NA18978,NA19140,NA19142,NA19171,NA19173 nsv524181 9 106404242 106413750 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700063 S 2026 0 1 OR13C2 nsv438111 9 106405791 106406292 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470110,nssv470112,nssv470109,nssv470111 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA19152,NA19154,NA19204,NA19205 esv5880 9 106406018 106418616 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28321 S 1 0 1 OR13C2 SJK esv2421460 9 106408238 106416775 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5059188,essv5137653,essv5118543,essv5043537,essv5032262,essv5118387,essv5048154,essv5002168,essv5071653,essv5004183,essv5111834,essv5012730,essv5108986,essv5145533,essv5124099 M 1184 0 15 "" NA19038,NA19143,NA19308,NA19324,NA19360,NA19380,NA19383,NA19394,NA19398,NA19434,NA19449,NA19462,NA19473,NA19901,NA21390 esv1357086 9 106440809 106441123 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4362746 S 2 0 1 "" HuRef nsv893672 9 106516710 106576716 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584344,nssv1600452 M 6533 1 1 LOC286367,NIPSNAP3A,NIPSNAP3B IS36973,IS41887 nsv516313 9 106523234 106525147 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692861,nssv667512,nssv685988,nssv686047,nssv672839,nssv654556,nssv662995,nssv691955 M 2026 0 8 "" nsv818717 9 106523234 106525147 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417048,nssv1417047 M 112 0 2 "" NA07000,NA07029 nsv521783 9 106559270 106572138 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694551 S 2026 0 1 NIPSNAP3A,NIPSNAP3B nsv6650 9 106602158 106647329 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8650 S 9 0 1 ABCA1 NA12156 esv8704 9 106636001 106636927 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31145 S 1 0 1 ABCA1 SJK nsv825026 9 106636030 106637546 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440494,nssv1428249 M 31 0 2 ABCA1 NA18564,NA18947 esv22475 9 106636036 106637657 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19347 S 451 0 2 ABCA1 NA12749,NA19129 nsv893673 9 106636232 106680607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557765 S 6533 0 1 ABCA1 MS22858 nsv893674 9 106651648 106680607 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600171 S 6533 0 1 ABCA1 IS41853 nsv466471 9 106651648 106716761 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542004 S 1557 0 1 ABCA1 1780862197_A nsv893675 9 106652871 106693247 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584345 S 6533 1 0 ABCA1 IS36973 nsv893676 9 106657254 106672481 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510511 S 6533 0 1 ABCA1 SP54967 nsv893677 9 106658884 106667080 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506414 S 6533 0 1 ABCA1 SP54345 dgv8269n71 9 106661493 106668925 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv893678,nsv893679 M 6533 8 6 ABCA1 IS30369,IS31971,IS40828,MS10311,SP51109,SP54196,SP54442,SP54684,SP55056,SP55100,SP55279,SP55310,SP56223,SP57469 nsv893680 9 106661493 106670902 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510590 S 6533 0 1 ABCA1 SP54979 dgv8270n71 9 106661493 106686081 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893682,nsv893681 M 6533 0 2 ABCA1 MS25750,SP54042 nsv44 9 106670041 106687948 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv44 S 1 1 0 ABCA1 NA15510 nsv6651 9 106670041 106687948 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11203 S 9 1 0 ABCA1 NA15510 nsv509315 9 106670162 106699401 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620925 S 4 1 0 ABCA1 NA15510 nsv893683 9 106670902 106735217 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587064 S 6533 1 0 ABCA1 IS37986 nsv6652 9 106708601 106753339 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8651 S 9 0 1 ABCA1 NA12156 nsv528797 9 106721833 106722943 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705470 S 2026 0 1 ABCA1 nsv524600 9 106722943 106724097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700561 S 2026 1 0 ABCA1 esv274886 9 106726278 106735174 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585851,essv2585227 M 1250 1 1 ABCA1 esv1784871 9 106748517 106748582 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174355 S 2 0 1 "" HuRef esv270330 9 106786694 106787671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500231,essv2512449,essv2507737,essv2510670,essv2493262,essv2494901,essv2494509,essv2513255,essv2509334,essv2503938 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA12006,NA12043,NA12751,NA18501,NA18504,NA18520,NA18572,NA18907,NA18909 nsv416809 9 106824841 106824891 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435387 M 24 "" dgv493n21 9 106836369 106838863 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv522636,nsv527230 M 2026 0 2 "" esv22118 9 106838671 106843096 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11612 S 451 0 1 "" NA07045 nsv520267 9 106838863 106842043 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687710,nssv675138,nssv687834,nssv662261 M 2026 0 4 "" esv2626791 9 106856430 106857505 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357914 S 1 0 0 "" NA18507 esv6897 9 106856800 106856980 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29338 S 1 0 0 "" SJK nsv524391 9 106866468 106867732 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700308 S 2026 0 1 "" nsv509316 9 106894124 106894124 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620926 S 4 1 0 "" NA15510 nsv893684 9 106933450 107040928 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587065 S 6533 1 0 "" IS37986 nsv831678 9 106963343 107152634 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447932,nssv1447933,nssv1447934 M 95 2 1 SLC44A1 nsv893685 9 106980558 107123306 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1554108 S 6533 0 1 SLC44A1 MS20616 dgv8271n71 9 107008151 107123306 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893687,nsv893686,nsv893688,nsv893690 M 6533 0 4 SLC44A1 IS32006,IS41866,MS18916,SP51221 nsv893689 9 107018384 107170427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567783 S 6533 0 1 SLC44A1 IS31145 nsv523889 9 107020142 107021392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699732 S 2026 0 1 "" nsv437650 9 107028018 107034450 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467531 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19208 nsv893691 9 107034450 107060105 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518158 S 6533 0 1 SLC44A1 SP57469 nsv893692 9 107258673 107360809 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587066 S 6533 1 0 FKTN,FSD1L IS37986 nsv416298 9 107335543 107343390 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434876 M 24 FSD1L esv5990 9 107377059 107377131 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28431 S 1 1 0 FKTN SJK nsv519023 9 107411370 107494566 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694299 S 2026 1 0 FKTN,TAL2 esv22929 9 107412163 107413141 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10733 S 451 0 1 FKTN NA19225 esv1270026 9 107460482 107460482 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4265737 S 2 1 0 "" HuRef nsv518522 9 107466556 107466605 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695963 S 2026 1 0 "" nsv893693 9 107466883 107722955 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587067 S 6533 1 0 TMEM38B IS37986 nsv6653 9 107482653 107537169 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5174,nssv9768 M 9 2 0 TMEM38B NA18507,NA19129 nsv893694 9 107526354 107893839 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1599228 S 6533 1 0 TMEM38B IS41456 esv26979 9 107575927 107577983 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20657 S 451 1 0 TMEM38B NA15510 nsv508558 9 107575936 107650908 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618860 S 4 0 1 TMEM38B NA10860 nsv825027 9 107576621 107577119 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425943 S 31 1 0 TMEM38B AK4 esv2513312 9 107595736 107623872 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5290221 S 1 0 1 "" NA18507 esv1541859 9 107621240 107621318 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3843031 S 2 0 1 "" HuRef nsv831679 9 107642933 107825168 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447935 S 95 1 0 "" nsv6655 9 107659250 107663221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv822 S 9 1 0 "" NA19240 esv2509945 9 107689576 107690728 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5207040 S 1 1 0 "" NA18507 esv268399 9 107707937 107708337 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509792,essv2496444,essv2494014,essv2509256,essv2493902 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18510,NA18871,NA18909,NA19210 nsv6656 9 107832701 107867486 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3736 S 9 1 0 "" NA12878 nsv525441 9 107924361 107933603 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701569 S 2026 0 1 "" esv2600666 9 107927430 107929013 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5319388 S 1 0 1 "" NA18507 esv6221 9 108063950 108064243 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28662 S 1 0 1 "" SJK nsv528178 9 108064941 108082393 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704728 S 2026 1 0 "" esv2431946 9 108082891 108084361 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5262382 S 1 0 1 "" NA18507 esv2038742 9 108141348 108141821 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917297 S 1 0 1 "" NA18507 dgv2409e1 9 108190451 108395899 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv768,essv23014 M 271 0 0 "" NA12812 esv988479 9 108200472 108200472 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568201 S 3 1 0 "" HuRef esv1503338 9 108200473 108200473 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4302547 S 2 1 0 "" HuRef nsv893695 9 108204777 108322580 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587068 S 6533 1 0 "" IS37986 essv19134 9 108223757 108335661 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12812 nsv818718 9 108224416 108331018 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416082 S 112 0 1 "" NA12812 esv22905 9 108316243 108319719 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14364 S 451 0 3 "" NA18907,NA18909,NA19099 nsv524973 9 108337861 108349425 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700998 S 2026 0 1 "" nsv521586 9 108432803 108434434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698203 S 2026 0 1 "" esv2116516 9 108474502 108474958 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4972768 S 1 0 1 "" NA18507 nsv893696 9 108513608 108672174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587069 S 6533 1 0 ZNF462 IS37986 nsv831680 9 108693417 108888648 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447936 S 95 0 1 ZNF462 esv29808 9 108779403 108781894 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11539 S 451 0 1 ZNF462 NA19114 nsv893697 9 108797253 108849187 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587070 S 6533 1 0 ZNF462 IS37986 esv1742462 9 108830185 108830185 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3819763 S 2 1 0 "" HuRef nsv466476 9 108853268 108879311 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542006 S 1557 0 1 "" 1780854326_A esv2464330 9 108881123 108882241 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169463 S 1 1 0 "" NA18507 nsv831682 9 108977002 109115274 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447938,nssv1447937 M 95 2 0 RAD23B nsv519264 9 108982986 108994633 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696755 S 2026 0 1 "" nsv466477 9 109000374 109026900 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542007 S 1557 0 1 "" 1780854599_A esv271853 9 109013038 109013363 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514550 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11840 nsv893698 9 109038384 109092481 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584346 S 6533 1 0 RAD23B IS36973 nsv508560 9 109046311 109100360 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622615,nssv618861,nssv620028 M 4 0 3 RAD23B NA10860,NA15510,NA18994 esv3068 9 109058060 109060744 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25509 S 1 0 1 Single Asian sample YH "" YH esv2600042 9 109072575 109075808 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355172 S 1 0 1 "" NA18507 esv998754 9 109072830 109075329 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563865 S 3 0 1 "" HuRef nsv512113 9 109073071 109075313 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624671 S 1 0 1 "" 1 esv2378700 9 109073072 109075347 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777725 S 1 0 1 "" NA18507 esv4904 9 109073237 109075601 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27345 S 1 0 1 Single Asian sample YH "" YH nsv415896 9 109073276 109075278 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434474 M 24 "" nsv519266 9 109089298 109125076 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696756 S 2026 1 0 RAD23B nsv893699 9 109147683 109228018 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587071 S 6533 1 0 "" IS37986 esv259710 9 109191055 109192243 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397708,essv2398228,essv2398332,essv2395204 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18909,NA19093,NA19108 nsv523323 9 109195127 109195179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699065 S 2026 0 1 "" nsv825028 9 109288417 109292364 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421830 S 31 1 0 KLF4 NA18547 nsv831683 9 109315033 109501109 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447940 S 95 0 1 "" esv1401888 9 109334940 109334940 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324573 S 2 1 0 "" HuRef esv29403 9 109366339 109367044 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12751 S 451 0 2 "" NA18517,NA18909 nsv893700 9 109405158 109491337 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587072 S 6533 1 0 "" IS37986 nsv528269 9 109442778 109450709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704837 S 2026 0 1 "" nsv521747 9 109458395 109480934 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694513 S 2026 0 1 "" nsv519833 9 109464396 109470160 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697076 S 2026 0 1 "" esv2505970 9 109467100 109472033 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307062 S 1 0 1 "" NA18507 esv2334140 9 109467300 109471346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4825656 S 1 0 1 "" NA18507 esv26060 9 109467507 109471745 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13152 S 451 0 5 "" NA18502,NA18858,NA18916,NA19114,NA19240 esv2655199 9 109468496 109470960 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277657 S 1 0 1 "" NA18507 esv2202829 9 109472524 109473157 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4711990 S 1 0 1 "" NA18507 esv8754 9 109472578 109473095 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31195 S 1 0 1 "" SJK esv4210 9 109472666 109473127 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26651 S 1 0 1 Single Asian sample YH "" YH nsv428221 9 109496434 109672145 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451763,nssv451765 M 62 2 0 "" HGDP00462,HGDP00984 nsv525064 9 109541258 109544179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701116 S 2026 0 1 "" nsv526623 9 109543586 109544179 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702943 S 2026 0 1 "" nsv520911 9 109544179 109557615 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679368,nssv677564 M 2026 0 2 "" nsv508561 9 109546157 109585188 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617373,nssv618862 M 4 0 2 "" CHM,NA10860 nsv6657 9 109573027 109585292 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3737 S 9 0 1 "" NA12878 esv2444929 9 109576715 109581036 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230881 S 1 0 1 "" NA18507 dgv198e180 9 109577029 109580858 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv989814,esv990413 M 3 0 1 "" HuRef nsv435883 9 109577115 109581093 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466549 S 2 0 1 "" NA15510 esv2343493 9 109577149 109580607 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4702000 S 1 0 1 "" NA18507 nsv512114 9 109577322 109580432 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624672 S 1 0 1 "" 1 dgv60n47 9 109577341 109580434 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499678,nsv499222 M 9 0 2 "" esv6347 9 109577352 109580422 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28788 S 1 0 1 "" SJK esv1406171 9 109577356 109580431 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708886 S 2 0 1 "" HuRef nsv416968 9 109577359 109580433 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435546 M 24 "" esv25930 9 109624406 109643866 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18435 S 451 1 0 "" NA12044 nsv893701 9 109690303 109749408 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587073 S 6533 1 0 "" IS37986 esv1942449 9 109764799 109765219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4623455 S 1 0 1 "" NA18507 nsv825029 9 109839493 109840108 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423584 S 31 0 1 "" NA18999 nsv524813 9 109950939 109952975 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700807 S 2026 0 1 "" nsv6658 9 109958435 109989679 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1795 S 9 1 0 "" NA18555 nsv466478 9 110045559 110072132 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542008 S 1557 0 1 "" 1780854491_A esv2607274 9 110049845 110050598 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5223939 S 1 1 0 "" NA18507 esv1119906 9 110050062 110050062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312813 S 2 1 0 "" HuRef nsv831684 9 110065355 110246889 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447941 S 95 0 1 "" nsv893702 9 110179954 110254474 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587074 S 6533 1 0 "" IS37986 esv269043 9 110239190 110239351 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496646,essv2495413,essv2508011 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11919,NA12003 esv1252647 9 110257300 110257300 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3922816 S 2 1 0 "" HuRef esv2642633 9 110345946 110347404 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298018 S 1 0 1 "" NA18507 nsv893703 9 110385631 110419073 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584347 S 6533 1 0 "" IS36973 nsv893704 9 110449345 110469745 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584348 S 6533 1 0 "" IS36973 nsv893705 9 110509754 110577343 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587075 S 6533 1 0 "" IS37986 nsv519943 9 110601865 110603898 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697139 S 2026 0 1 "" esv269954 9 110604762 110610830 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540789,essv2523111,essv2550769,essv2535275,essv2547130,essv2544632,essv2565006,essv2559786,essv2567597,essv2569934,essv2572274,essv2572988,essv2555251,essv2577118,essv2525629,essv2549123,essv2554631,essv2547990,essv2563100 M 157 19 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA07347,NA10847,NA11831,NA12004,NA12155,NA12249,NA12717,NA18526,NA18558,NA18570,NA18582,NA18593,NA18609,NA18942,NA18943,NA18970,NA18980 nsv526750 9 110627780 110629178 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703096 S 2026 0 1 "" nsv6659 9 110658364 110692383 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3739 S 9 1 0 ACTL7A,IKBKAP NA12878 dgv199e180 9 110702866 110702967 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1006666,esv987554 M 3 0 1 IKBKAP HuRef esv1329530 9 110703003 110703088 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4307316 S 2 0 1 IKBKAP HuRef nsv416100 9 110703004 110703088 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434678 M 24 IKBKAP nsv6660 9 110764519 110810138 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6291 S 9 0 1 CTNNAL1 NA12156 nsv507526 9 110823173 110829173 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621948 S 4 1 0 C9orf5 NA10860 esv271478 9 110952058 110952395 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515167,essv2514403 M 157 2 0 Samples from several populations that are part of the HapMap project. C9orf4 NA12812,NA12874 esv268070 9 110989527 110989872 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521327,essv2525431,essv2547618,essv2565297,essv2552901,essv2541321,essv2524681,essv2565026,essv2522078,essv2532565,essv2528846,essv2535759,essv2572204,essv2573194,essv2555658,essv2556098,essv2576975,essv2554736,essv2547868 M 157 19 0 Samples from several populations that are part of the HapMap project. EPB41L4B NA07346,NA07347,NA11894,NA12156,NA12717,NA12812,NA18542,NA18545,NA18555,NA18558,NA18571,NA18576,NA18579,NA18608,NA18609,NA18942,NA18945,NA18956,NA18970 nsv831685 9 111034980 111214112 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447942 S 95 1 0 EPB41L4B,PTPN3 nsv893706 9 111087316 111171043 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587076 S 6533 1 0 EPB41L4B IS37986 nsv825033 9 111095633 111154854 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439001 S 31 1 0 EPB41L4B NA18973 esv29273 9 111122513 111123258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15516 S 451 0 1 EPB41L4B NA07037 dgv2410e1 9 111225231 111414597 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16366,esv43 M 271 0 0 PTPN3 NA19193 nsv8557 9 111237150 111239768 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21141 S 31 0 1 Samples from several populations that are part of the HapMap project. PTPN3 NA18860 esv272364 9 111301185 111301516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581710,essv2582373 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv268209 9 111301186 111301517 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565743,essv2546262,essv2526311,essv2522810,essv2570779,essv2568426,essv2531703,essv2570463,essv2525293,essv2553788,essv2565493,essv2547091,essv2557078,essv2537070,essv2566683,essv2538492,essv2524118,essv2574879,essv2545087,essv2545921,essv2574513,essv2551514,essv2533003,essv2547879 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07347,NA11829,NA11881,NA11918,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12763,NA12812,NA12892,NA18501,NA18517,NA18948,NA19108,NA19129,NA19138,NA19172,NA19239,NA19240,NA19257 esv33615 9 111303599 111311604 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94125 S 51 0 1 "" 21802 esv4548 9 111325741 111325835 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26989 S 1 1 0 Single Asian sample YH "" YH esv2623949 9 111325793 111327454 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172055 S 1 0 1 "" NA18507 esv4560 9 111325835 111326604 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27001 S 1 0 1 Single Asian sample YH "" YH esv9118 9 111325871 111326558 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31559 S 1 0 1 "" SJK nsv825034 9 111340488 111341357 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428467,nssv1421952 M 31 0 2 "" AK10,NA18547 nsv893707 9 111364872 111471779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585358 S 6533 0 1 PALM2 IS37428 nsv831686 9 111401638 111572943 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447943 S 95 1 0 PALM2 nsv893708 9 111406456 111448364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587077 S 6533 1 0 PALM2 IS37986 nsv509317 9 111414345 111461332 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619558 S 4 1 0 PALM2 NA10860 nsv893709 9 111423250 111471779 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565348 S 6533 0 1 PALM2 IS30398 esv273613 9 111434926 111435011 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581061 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 nsv507527 9 111446874 111452874 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623078 S 4 1 0 PALM2 NA18994 esv995500 9 111452456 111452471 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565451 S 3 1 0 PALM2 HuRef nsv6661 9 111455074 111481002 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2818 S 9 1 0 PALM2 NA18555 esv2563678 9 111469227 111470758 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178593 S 1 0 1 PALM2 NA18507 esv1922439 9 111469844 111470526 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4504837 S 1 0 1 PALM2 NA18507 esv4643 9 111469978 111470429 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27084 S 1 0 1 Single Asian sample YH PALM2 YH esv2610332 9 111470024 111470338 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194065 S 1 0 1 PALM2 NA18507 esv9371 9 111470025 111470345 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31812 S 1 0 1 PALM2 SJK esv1764066 9 111470033 111470348 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725178 S 2 0 1 PALM2 HuRef esv268700 9 111505845 111506134 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2522809,essv2544831,essv2549379,essv2563581,essv2533451 M 157 5 0 Samples from several populations that are part of the HapMap project. PALM2 NA11931,NA18526,NA18564,NA18603,NA18944 nsv428222 9 111512839 111680715 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451766 S 62 0 1 PALM2,PALM2-AKAP2 HGDP00449 esv994161 9 111524684 111530043 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565679 S 3 0 1 PALM2 HuRef nsv831687 9 111540685 111695382 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447944 S 95 1 0 PALM2,PALM2-AKAP2 nsv893710 9 111545889 111571514 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584349 S 6533 1 0 PALM2 IS36973 nsv466479 9 111550383 111571358 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542009 S 1557 0 1 PALM2 1788485590_A esv25332 9 111559384 111560051 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19211 S 451 0 2 PALM2 NA11995,NA12414 nsv7430 9 111563157 111610758 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3740 S 9 0 0 PALM2,PALM2-AKAP2 NA12878 esv1279948 9 111570091 111570091 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3929748 S 2 1 0 PALM2 HuRef nsv831688 9 111578725 111738899 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447946,nssv1447945 M 95 1 1 PALM2,PALM2-AKAP2 nsv499708 9 111601601 111611330 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585573 S 9 0 0 PALM2,PALM2-AKAP2 nsv527195 9 111713324 111754920 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703593 S 2026 0 1 PALM2,PALM2-AKAP2 dgv494n21 9 111754920 112004557 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524744,nsv528209 M 2026 2 0 AKAP2,C9orf152,PALM2-AKAP2 nsv893711 9 111771016 111913689 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587078 S 6533 1 0 AKAP2,PALM2-AKAP2 IS37986 esv2075173 9 111790478 111790919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941759 S 1 0 1 PALM2-AKAP2 NA18507 esv1090209 9 111790684 111790756 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208169 S 2 0 1 PALM2-AKAP2 HuRef nsv416423 9 111837422 111837422 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435001 M 24 PALM2-AKAP2 nsv471314 9 111862004 111895465 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545873 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKAP2,PALM2-AKAP2 HGDP01417 esv2619523 9 111863342 111864775 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5186204 S 1 0 1 AKAP2,PALM2-AKAP2 NA18507 esv2096560 9 111863734 111864304 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583448 S 1 0 1 AKAP2,PALM2-AKAP2 NA18507 esv2501710 9 111869417 111871097 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205694 S 1 0 1 AKAP2,PALM2-AKAP2 NA18507 esv2195369 9 111869856 111870838 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001612 S 1 0 1 AKAP2,PALM2-AKAP2 NA18507 esv28884 9 111870020 111870953 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14213 S 451 0 4 AKAP2,PALM2-AKAP2 NA18508,NA18907,NA19129,NA19225 nsv466480 9 111870040 111898722 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542010 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKAP2,PALM2-AKAP2 HGDP01417 esv273365 9 111947865 111948200 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581078 S 7 1 0 Samples from several populations that are part of the HapMap project. AKAP2,PALM2-AKAP2 NA19240 nsv466481 9 111959109 111977999 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542011 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKAP2,PALM2-AKAP2 HGDP00925 nsv471316 9 111959987 111977999 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545874 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKAP2,PALM2-AKAP2 HGDP00925 nsv515562 9 111959987 111977999 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663915,nssv657331,nssv659585,nssv681426 M 2026 4 0 AKAP2,PALM2-AKAP2 nsv524745 9 111968951 112004557 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700736 S 2026 1 0 AKAP2,C9orf152,PALM2-AKAP2 esv2752274 9 111973092 112240266 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986169,essv6982429,essv6982428,essv6982427 M 771 1 0 AKAP2,C9orf152,PALM2-AKAP2,SVEP1,TXN,TXNDC8 BEC_44 nsv893712 9 111977999 112045108 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587079 S 6533 1 0 C9orf152 IS37986 esv22187 9 111988887 111996637 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11644 S 451 1 0 "" NA12006 nsv893713 9 112006961 112057383 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1559613 S 6533 1 0 C9orf152,TXN MS24052 nsv508562 9 112039365 112078989 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622616 S 4 0 1 TXN NA18994 nsv528080 9 112041594 112045108 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704616 S 2026 0 1 "" nsv521448 9 112041594 112046806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698059 S 2026 0 1 TXN nsv437092 9 112045081 112046109 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv466973 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA12864 esv1173288 9 112046437 112046437 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144126 S 2 1 0 TXN HuRef nsv6662 9 112048903 112084284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1796,nssv6292,nssv10678 M 9 0 3 TXN NA12156,NA18555,NA18956 nsv893714 9 112060737 112148987 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587080 S 6533 1 0 TXNDC8 IS37986 nsv825035 9 112062292 112070161 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437597,nssv1429978,nssv1440495,nssv1434559,nssv1426860,nssv1431474,nssv1424371,nssv1427907,nssv1429231,nssv1436827 M 31 0 10 "" AK12,AK14,AK18,AK6,NA18542,NA18564,NA18570,NA18582,NA18949,NA18968 nsv825036 9 112062505 112069886 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433807 S 31 1 0 "" NA18526 nsv820677 9 112062505 112070111 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420821 S 1 0 1 "" NA10851 esv7794 9 112064308 112076954 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30235 S 1 0 1 "" SJK esv24011 9 112064339 112069738 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13393 S 451 31 2 "" NA07037,NA11894,NA11931,NA11995,NA12004,NA12044,NA12239,NA12287,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv499220 9 112064397 112069787 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586120 S 9 0 1 "" nsv825037 9 112064482 112069886 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1438298,nssv1430739,nssv1441226,nssv1422074,nssv1425143,nssv1422762,nssv1439822,nssv1427654,nssv1421883,nssv1428261,nssv1428468,nssv1425944,nssv1439002,nssv1435251,nssv1436006 M 31 1 14 "" AK10,AK16,AK2,AK4,AK8,NA18537,NA18547,NA18552,NA18566,NA18942,NA18947,NA18951,NA18969,NA18973,NA18997 nsv442563 9 112064610 112067990 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515120 9 112064680 112069664 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628032 S 1414 0 1 "" esv32751 9 112064711 112069682 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101215,essv95157,essv94390,essv96877,essv95544,essv95288,essv95916,essv96079,essv93386,essv99584,essv92644,essv99213 M 51 0 12 "" 21618,21721,21808,21817,21847,21872,21911,22007,22170,22217,22233,22275 nsv6663 9 112074995 112100259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10679 S 9 1 0 "" NA18956 nsv518626 9 112143617 112189773 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696075 S 2026 1 0 SVEP1 nsv893715 9 112157622 112236250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587081 S 6533 1 0 SVEP1 IS37986 nsv893716 9 112173958 112261068 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552418 S 6533 0 1 SVEP1 MS19414 nsv522509 9 112178391 112178851 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705877 S 2026 1 0 SVEP1 nsv466482 9 112181830 112515926 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542012 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MUSK,SVEP1 HGDP00199 nsv825038 9 112182477 112187171 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422197 S 31 1 0 SVEP1 NA18547 nsv416225 9 112192389 112192454 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434803 M 24 SVEP1 esv27004 9 112215743 112219185 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12192 S 451 0 1 SVEP1 NA18523 nsv516479 9 112215934 112217145 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690808,nssv668607,nssv676460,nssv674579 M 2026 0 4 SVEP1 nsv521593 9 112215934 112227542 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698210 S 2026 0 1 SVEP1 nsv893717 9 112314024 112385352 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587082 S 6533 1 0 SVEP1 IS37986 nsv466484 9 112327376 112353324 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542014 S 1557 0 1 SVEP1 NINDS_159 esv268756 9 112366864 112367084 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510141,essv2495246,essv2505094,essv2500195,essv2499478,essv2502866,essv2508377,essv2493332,essv2498323,essv2508776,essv2499867,essv2500598,essv2512746,essv2510038,essv2499222,essv2501577,essv2507575,essv2511698,essv2504941,essv2503167,essv2512273,essv2495160,essv2502700,essv2500781,essv2503601,essv2504333 M 157 26 0 Samples from several populations that are part of the HapMap project. SVEP1 NA06986,NA07347,NA11829,NA11992,NA11995,NA12006,NA12044,NA12156,NA12749,NA12776,NA18526,NA18532,NA18562,NA18571,NA18577,NA18593,NA18605,NA18608,NA18638,NA18940,NA18942,NA18943,NA18949,NA18964,NA18965,NA18973 nsv6664 9 112425616 112457926 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv823 S 9 1 0 "" NA19240 nsv527933 9 112438382 112443667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704441 S 2026 0 1 "" esv2614598 9 112503257 112504694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216336 S 1 0 1 MUSK NA18507 esv2298654 9 112503590 112504180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948334 S 1 0 1 MUSK NA18507 esv1003568 9 112515602 112521038 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563606 S 3 0 1 MUSK HuRef nsv436600 9 112516446 112521930 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466551 S 2 0 1 Samples from several populations that are part of the HapMap project. MUSK NA18505 esv994960 9 112516948 112518970 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587132 S 3 0 1 MUSK HuRef esv999248 9 112516996 112519942 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586607 S 3 0 1 MUSK HuRef esv28185 9 112516996 112519963 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17540 S 451 0 11 MUSK NA18502,NA18505,NA18508,NA18517,NA18861,NA18907,NA19099,NA19129,NA19147,NA19225,NA19240 nsv893718 9 112517349 112623729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587083 S 6533 1 0 MUSK IS37986 nsv893719 9 112528505 112562738 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503227 S 6533 1 0 MUSK SP52008 esv271869 9 112531324 112531655 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558204,essv2576063,essv2540753,essv2542219,essv2522819,essv2556499,essv2545485,essv2570386,essv2521886,essv2550725,essv2547205,essv2558542,essv2564658,essv2578026,essv2553826,essv2576231,essv2520202,essv2564284,essv2555164,essv2530539,essv2561778,essv2537225,essv2528460,essv2547062,essv2557082,essv2544569,essv2523800,essv2569985,essv2542132,essv2551041,essv2568979,essv2566531,essv2576933,essv2529745,essv2526471,essv2560545,essv2571221,essv2551570,essv2538049,essv2548689,essv2533246,essv2563156 M 157 42 0 Samples from several populations that are part of the HapMap project. MUSK NA07000,NA07037,NA07051,NA10847,NA10851,NA11830,NA11831,NA11919,NA11931,NA11994,NA12003,NA12044,NA12144,NA12155,NA12717,NA12750,NA12751,NA12761,NA12763,NA12814,NA12815,NA12828,NA12872,NA12873,NA12874,NA12878,NA12891,NA12892,NA18501,NA18526,NA18537,NA18593,NA18856,NA18858,NA18861,NA18948,NA18970,NA19093,NA19114,NA19116,NA19238,NA19257 esv272528 9 112531326 112531657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582033,essv2582328,essv2583116,essv2583985,essv2584471,essv2583801 M 7 6 0 Samples from several populations that are part of the HapMap project. MUSK NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv510201 9 112601123 112607123 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621362,nssv618317 M 4 0 2 MUSK CHM,NA15510 esv272863 9 112611030 112611336 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580117,essv2580276 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv271774 9 112611039 112611367 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2544170,essv2568397,essv2545489,essv2548336,essv2550649,essv2554195,essv2552200,essv2547213,essv2529282,essv2558459,essv2576244,essv2530714,essv2537461,essv2528288,essv2562736,essv2569688,essv2544908,essv2534682,essv2570315,essv2566692,essv2533908,essv2566623,essv2527532,essv2575359,essv2538564,essv2560366,essv2549752,essv2537937,essv2548022,essv2524939,essv2563440 M 157 31 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07347,NA07357,NA10847,NA11992,NA11995,NA12003,NA12045,NA12155,NA12287,NA12489,NA12717,NA12749,NA12750,NA12814,NA12873,NA12878,NA12891,NA18507,NA18520,NA18526,NA18561,NA18593,NA18853,NA18916,NA18948,NA18952,NA19102,NA19108,NA19190,NA19225 nsv6666 9 112613239 112658537 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8652 S 9 0 1 "" NA12156 esv8166 9 112632220 112632567 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30607 S 1 0 0 "" SJK esv268244 9 112639950 112640250 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505327,essv2498384 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18853,NA18858 nsv517281 9 112654542 112654799 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660643,nssv654198 M 2026 0 2 "" nsv510202 9 112663680 112669680 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621363 S 4 0 1 "" NA15510 nsv527204 9 112686085 112690868 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703604 S 2026 0 1 LPAR1 nsv527998 9 112714788 112741085 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704523 S 2026 1 0 LPAR1 nsv526335 9 112726174 112762542 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702626 S 2026 1 0 LPAR1 nsv831689 9 112828998 113018028 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447947 S 95 1 0 LPAR1 esv33480 9 112839263 112842241 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101442,essv100908,essv101024,essv95217,essv94107,essv101308,essv97818,essv95589,essv95329,essv101617,essv95781,essv94510,essv93738,essv96126,essv97083,essv100090,essv95929,essv93431,essv93234,essv94928,essv96486,essv99164,essv97782,essv100452,essv100382,essv99436,essv96419 M 51 18 9 LPAR1 21603,21656,21693,21721,21802,21805,21837,21841,21872,21909,21911,21932,21972,22007,22075,22086,22127,22128,22170,22231,22261,22275,22278,22298,22300,22335,22371 nsv518992 9 112851266 112951434 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696459 S 2026 0 1 "" esv259812 9 112852543 112853359 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396059,essv2397523 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18947 esv33803 9 112876040 112877792 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101479,essv93936,essv94655,essv101426,essv97018,essv95672,essv95421,essv93704,essv99786,essv93313,essv94945,essv96567,essv97705,essv100626 M 51 14 0 "" 21603,21634,21791,21805,21817,21841,21847,21972,22086,22170,22231,22261,22278,22298 esv33423 9 112879035 112879405 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100822 S 51 0 1 "" 21656 esv33522 9 112884242 112884633 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100229 S 51 1 0 "" 22286 esv2503882 9 112888535 112890136 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5276092 S 1 0 0 "" NA18507 nsv893720 9 112892670 112945272 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1579939 S 6533 0 1 "" IS35190 esv274535 9 112914930 112915157 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582870,essv2584496,essv2583552 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12892,NA19239,NA19240 nsv893721 9 112919894 113023376 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552083 S 6533 0 1 "" MS19161 nsv893722 9 112919894 113186507 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587084 S 6533 1 0 KIAA0368,OR2K2 IS37986 nsv517160 9 112925515 112932784 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679159,nssv664885,nssv686094,nssv675155,nssv671279,nssv653896,nssv692661 M 2026 0 7 "" nsv466485 9 112925515 113028981 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542015 S 1557 0 1 "" NINDS_26 esv273575 9 112940222 112940580 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580956,essv2579657 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv269664 9 112940229 112940587 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496595,essv2494368,essv2504092,essv2496292,essv2506120,essv2498370,essv2498453,essv2505735,essv2507045,essv2493984,essv2513265,essv2501376,essv2506454,essv2499043,essv2497112,essv2511955,essv2498230 M 157 17 0 Samples from several populations that are part of the HapMap project. "" NA18486,NA18502,NA18505,NA18511,NA18523,NA18526,NA18858,NA18861,NA18870,NA18871,NA18907,NA19093,NA19108,NA19114,NA19190,NA19238,NA19240 nsv893723 9 112945272 113037708 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584350 S 6533 1 0 "" IS36973 esv2193044 9 113053788 113054300 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705328 S 1 0 1 "" NA18507 nsv415487 9 113054014 113054149 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434065 M 24 "" nsv442162 9 113064716 113071390 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv438112 9 113100532 113105107 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470113 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA19159 nsv525736 9 113186507 113188705 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701901 S 2026 0 1 KIAA0368 nsv416941 9 113189788 113189861 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435519 M 24 KIAA0368 nsv825039 9 113195634 113196105 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421884 S 31 1 0 KIAA0368 NA18997 esv2492334 9 113204882 113210163 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322863 S 1 0 1 KIAA0368 NA18507 nsv436620 9 113205270 113210588 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466552 S 2 0 1 Samples from several populations that are part of the HapMap project. KIAA0368 NA18505 esv2057050 9 113205328 113209699 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616519 S 1 0 1 KIAA0368 NA18507 esv29361 9 113205679 113210045 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15795 S 451 0 4 KIAA0368 NA18505,NA18907,NA19114,NA19225 nsv825040 9 113260175 113327071 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439003 S 31 1 0 KIAA0368 NA18973 nsv893724 9 113291517 113508787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587085 S 6533 1 0 C9orf29,C9orf84,DNAJC25,DNAJC25-GNG10,GNG10,PTGR1,ZNF483 IS37986 esv4254 9 113373061 113373838 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26695 S 1 0 1 Single Asian sample YH PTGR1,ZNF483 YH esv5602 9 113373115 113373731 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28043 S 1 0 1 PTGR1,ZNF483 SJK esv275316 9 113396188 113414465 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585892,essv2585444 M 1250 1 1 C9orf29,PTGR1 nsv825041 9 113409278 113476059 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439004 S 31 1 0 C9orf29,DNAJC25,DNAJC25-GNG10,GNG10 NA18973 nsv893725 9 113417742 113475489 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511415 S 6533 0 1 DNAJC25,DNAJC25-GNG10,GNG10 SP55021 nsv893726 9 113449630 113508787 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584351 S 6533 1 0 C9orf84,DNAJC25,DNAJC25-GNG10,GNG10 IS36973 nsv466486 9 113466796 113517291 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542016 S 1557 1 0 C9orf84,DNAJC25-GNG10,GNG10 NINDS_222 nsv893727 9 113504554 113547135 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514449 S 6533 0 1 C9orf84 SP56004 nsv893728 9 113557105 113652279 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587086 S 6533 1 0 C9orf84 IS37986 nsv831690 9 113577146 113773169 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447948,nssv1447949 M 95 0 2 C9orf84,MIR4668,UGCG nsv6667 9 113583214 113612329 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv824 S 9 1 0 C9orf84 NA19240 esv2420162 9 113593775 113594139 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502955 S 1 0 1 "" NA18507 esv1003380 9 113593857 113593943 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585099 S 3 0 1 "" HuRef esv1650763 9 113593966 113594053 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801179 S 2 0 1 "" HuRef nsv416718 9 113617762 113625909 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435296 M 24 "" esv2449045 9 113671107 113672515 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200596 S 1 0 1 "" NA18507 esv1991993 9 113671395 113672088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964245 S 1 0 1 "" NA18507 nsv893729 9 113675515 113754674 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587087 S 6533 1 0 MIR4668,UGCG IS37986 esv1136125 9 113714007 113714064 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3948042 S 2 0 1 UGCG HuRef nsv416550 9 113748669 113749884 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435128 M 24 "" nsv893730 9 113754674 113771688 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584352 S 6533 1 0 "" IS36973 esv275402 9 113762067 113767141 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585385,essv2585932 M 1250 1 1 "" nsv825042 9 113763577 113766772 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437598,nssv1424373,nssv1439823,nssv1439005,nssv1422763 M 31 0 5 "" NA18537,NA18552,NA18582,NA18949,NA18973 nsv825044 9 113766004 113766772 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433809,nssv1436007,nssv1428273 M 31 0 3 "" NA18526,NA18566,NA18947 nsv517388 9 113766129 113766482 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651877,nssv670331 M 2026 0 2 "" nsv510203 9 113771382 113777382 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624084,nssv622180,nssv618318,nssv621364 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 nsv415720 9 113776250 113776250 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434298 M 24 "" nsv416652 9 113776281 113776281 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435230 M 24 "" nsv893731 9 113879500 113964541 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587088 S 6533 1 0 MIR3134,SUSD1 IS37986 esv2555427 9 113908671 113909634 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5265295 S 1 1 0 MIR3134,SUSD1 NA18507 esv268057 9 113908825 113908910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518612,essv2516297,essv2517897,essv2517371,essv2513864,essv2518335,essv2513724 M 157 7 0 Samples from several populations that are part of the HapMap project. MIR3134,SUSD1 NA07347,NA12287,NA12814,NA12872,NA18970,NA19143,NA19240 esv272517 9 113908825 113908910 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581458,essv2581278 M 7 2 0 Samples from several populations that are part of the HapMap project. MIR3134,SUSD1 NA12878,NA19240 esv1083675 9 113940359 113940359 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3694860 S 2 1 0 MIR3134,SUSD1 HuRef esv2552622 9 113941159 113942694 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345025 S 1 0 1 MIR3134,SUSD1 NA18507 esv2180224 9 113941974 113942595 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4679646 S 1 0 1 MIR3134,SUSD1 NA18507 nsv415911 9 113942164 113942478 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434489 M 24 MIR3134,SUSD1 esv21611 9 114010614 114012556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12185 S 451 0 1 MIR3134 NA19129 esv2461102 9 114032757 114034266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5228657 S 1 0 1 MIR3134,ROD1 NA18507 esv2279381 9 114032871 114033611 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4797015 S 1 0 1 MIR3134,ROD1 NA18507 nsv518422 9 114037109 114044331 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695857 S 2026 1 0 MIR3134,ROD1 nsv825045 9 114078534 114081705 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424375 S 31 0 1 MIR3134,ROD1 NA18582 nsv466487 9 114107418 114184402 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542017 S 1557 0 1 HSDL2,MIR3134,ROD1 NINDS_272 nsv511430 9 114135564 114360435 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626041 S 1 0 1 HSDL2,KIAA1958,MIR3134,ROD1 1 nsv6668 9 114173198 114207746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2820 S 9 1 0 HSDL2 NA18555 nsv516134 9 114174178 114177297 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666427,nssv668370,nssv661952 M 2026 0 3 "" nsv521608 9 114174178 114181795 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698225 S 2026 0 1 "" nsv893732 9 114177297 114239984 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584353 S 6533 1 0 HSDL2 IS36973 nsv825046 9 114225535 114229279 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436828 S 31 1 0 HSDL2 NA18542 nsv6669 9 114240100 114273125 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3741 S 9 1 0 HSDL2 NA12878 esv32838 9 114256617 114256710 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94052,essv97449,essv101764,essv97144,essv93191,essv94907 M 51 6 0 HSDL2 21802,21879,21909,22075,22170,22231 dgv1231n67 9 114272544 114334557 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825048,nsv825047 M 31 2 0 HSDL2,KIAA1958 NA18542,NA18973 dgv2411e1 9 114280275 114687338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11277,essv16551 M 271 0 0 C9orf80,KIAA1958,SLC46A2,SNX30 NA19204,NA19210 dgv2412e1 9 114280275 115042772 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11113,essv10910,esv507 M 271 0 0 C9orf80,FKBP15,KIAA1958,LINC00256A,LINC00256B,SLC31A1,SLC31A2,SLC46A2,SNX30,ZFP37,ZNF883 NA19209,NA19211 esv1981326 9 114304287 114304751 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4603364 S 1 0 1 KIAA1958 NA18507 esv3305 9 114304434 114304717 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25746 S 1 0 1 Single Asian sample YH KIAA1958 YH nsv416371 9 114304467 114304550 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434949 M 24 KIAA1958 nsv6670 9 114308704 114309793 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv825 S 9 1 0 KIAA1958 NA19240 esv1050816 9 114316381 114316934 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710310 S 2 0 1 KIAA1958 HuRef esv2333544 9 114319046 114319453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906293 S 1 0 1 KIAA1958 NA18507 nsv466488 9 114321857 114411218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542018 S 1557 0 1 KIAA1958 NINDS_93 esv2559748 9 114327835 114328773 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234108 S 1 1 0 KIAA1958 NA18507 esv1174496 9 114328092 114328092 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985655 S 2 1 0 KIAA1958 HuRef esv1674209 9 114328137 114328137 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4068428 S 2 1 0 KIAA1958 HuRef nsv510204 9 114348737 114354737 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618319,nssv622181 M 4 0 2 KIAA1958 CHM,NA10860 esv2500783 9 114379986 114381526 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5171714 S 1 0 1 KIAA1958 NA18507 nsv515899 9 114398870 114633691 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693083,nssv692817,nssv692622,nssv662159,nssv690694,nssv674489,nssv679688,nssv665191,nssv692354,nssv696532,nssv655701,nssv656683 M 2026 11 1 C9orf80,KIAA1958,SNX30 dgv262e55 9 114400326 114621274 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34739,esv34763,esv34346,esv35051 M 771 4 0 C9orf80,KIAA1958,SNX30 NA19204,NA19209,NA19210,NA19211 dgv2413e1 9 114411218 114633929 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7939,essv15168,essv10594,essv9964 M 271 0 0 C9orf80,KIAA1958,SNX30 NA19204,NA19209,NA19210,NA19211 nsv471317 9 114414974 114598067 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545875 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf80,KIAA1958,SNX30 HGDP00921 nsv515121 9 114423048 114625648 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628033 S 1414 1 0 C9orf80,KIAA1958,SNX30 nsv442163 9 114423076 114630399 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 C9orf80,KIAA1958,SNX30 nsv6671 9 114434852 114479838 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8653 S 9 0 1 KIAA1958 NA12156 nsv893733 9 114437027 114751889 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587089 S 6533 1 0 C9orf80,KIAA1958,SLC46A2,SNX30 IS37986 nsv415734 9 114500170 114501182 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434312 M 24 C9orf80 nsv8559 9 114550220 114554140 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18256,nssv18140 M 31 2 0 Samples from several populations that are part of the HapMap project. SNX30 NA18552,NA18853 esv2422302 9 114590160 114696254 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161446 S 181 0 1 SLC46A2,SNX30 ND04484 essv15169 9 114640444 114672719 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. SNX30 NA19210 nsv8560 9 114644464 114648733 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18348 S 31 0 1 Samples from several populations that are part of the HapMap project. SNX30 NA18564 nsv825049 9 114668736 114669844 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421885 S 31 1 0 SNX30 NA18997 esv995366 9 114668736 114669930 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587227 S 3 0 1 SNX30 HuRef esv1549334 9 114669045 114669045 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109876 S 2 1 0 SNX30 HuRef dgv2414e1 9 114688278 114704120 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv15164,essv10612 M 271 0 0 SLC46A2 NA19210,NA19211 nsv529036 9 114692657 114695670 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705747 S 2026 0 1 SLC46A2 esv2436124 9 114697222 114698274 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345734 S 1 1 0 "" NA18507 esv1480778 9 114697878 114697878 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800983 S 2 1 0 "" HuRef nsv525180 9 114728315 114736008 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701257 S 2026 0 1 "" dgv495n21 9 114734311 114736008 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521767,nsv528659 M 2026 0 2 "" nsv416436 9 114743434 114752664 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435014 M 24 "" nsv521966 9 114755976 114757396 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694734 S 2026 1 0 "" nsv466489 9 114755976 114785477 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542019 S 1557 0 1 "" NINDS_232 nsv466490 9 114755976 114823410 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542020 S 1557 0 1 ZNF883 1782681114_A nsv8561 9 114757014 114761428 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21171 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv466491 9 114785026 114854294 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542021 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ZFP37,ZNF883 HGDP00822 nsv831691 9 114794520 114969280 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447955,nssv1447953,nssv1447952,nssv1447951,nssv1447954,nssv1447956,nssv1447957 M 95 0 7 FKBP15,LINC00256A,LINC00256B,SLC31A2,ZFP37,ZNF883 nsv825050 9 114800453 114801133 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437599 S 31 1 0 ZNF883 NA18949 nsv517282 9 114814989 114855219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697084,nssv704595,nssv703787,nssv670899,nssv654199 M 2026 0 5 ZFP37 nsv510987 9 114830130 114895549 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618665 S 4 0 0 ZFP37 CHM nsv508563 9 114840453 114895549 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620029 S 4 0 1 ZFP37 NA15510 nsv509318 9 114840453 114895549 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619559,nssv623563 M 4 2 0 ZFP37 NA10860,NA18994 nsv6672 9 114850851 114896276 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv826,nssv1798 M 9 0 2 ZFP37 NA18555,NA19240 dgv1232n67 9 114851427 114921869 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825051,nsv825052 M 31 2 0 LINC00256A,LINC00256B,ZFP37 NA18542,NA18968 nsv525545 9 114854294 114902673 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701682 S 2026 1 0 ZFP37 dgv943n27 9 114854294 114907097 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466492,nsv466493 M 1557 0 2 LINC00256B,ZFP37 HGDP00199,HGDP00692 nsv893734 9 114855219 114930830 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597435,nssv1596936,nssv1583466,nssv1529437,nssv1522663,nssv1595150,nssv1599904,nssv1577706,nssv1580635,nssv1570587,nssv1594903,nssv1575967,nssv1600319,nssv1571401,nssv1589747,nssv1598231,nssv1565427,nssv1581045,nssv1580014,nssv1566004 M 6533 6 14 LINC00256A,LINC00256B,ZFP37 IS30413,IS30553,IS32259,IS32719,IS33846,IS34530,IS35222,IS35408,IS35495,IS36512,IS38403,IS40062,IS40135,IS40677,IS40832,IS40839,IS41807,IS41869,SP53324,SP81538 dgv2415e1 9 114855219 114932066 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7260,essv6551 M 271 0 0 LINC00256A,LINC00256B,ZFP37 NA18624,NA18635 nsv8562 9 114858488 114894419 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21201,nssv20593,nssv16639,nssv21623,nssv19328,nssv18378,nssv18947,nssv18843,nssv18286,nssv18869,nssv18555,nssv20562,nssv21464,nssv17666,nssv18170,nssv20221,nssv17604,nssv18547 M 31 16 2 Samples from several populations that are part of the HapMap project. ZFP37 NA07048,NA11830,NA12155,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA19007,NA19173,NA19240 esv26433 9 114860729 114895359 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20594 S 451 24 6 "" NA07037,NA07045,NA11931,NA12004,NA12156,NA12239,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240 nsv893735 9 114861675 114930830 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503762,nssv1513009 M 6533 2 0 LINC00256A,LINC00256B SP52109,SP55663 nsv515122 9 114864976 114877248 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627087 S 1414 0 0 "" dgv2416e1 9 114865612 115042772 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10694,essv22891,essv15663,essv789 M 271 0 0 FKBP15,LINC00256A,LINC00256B,SLC31A1,SLC31A2 NA12760,NA18855,NA18912,NA18956 nsv6673 9 114870997 114886944 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9769,nssv828 M 9 2 0 "" NA18507,NA19240 nsv7431 9 114881973 114914533 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5175 S 9 0 0 LINC00256B NA19129 nsv6674 9 114887115 114905782 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv829,nssv3742 M 9 2 0 "" NA12878,NA19240 dgv944n27 9 114892536 114907097 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466501,nsv466496,nsv466498,nsv466503,nsv466502,nsv466499,nsv466500,nsv466497 M 1557 0 8 LINC00256B HGDP00160,HGDP00216,HGDP00454,HGDP00906,HGDP00918,HGDP00920,HGDP00931,HGDP01094 nsv466495 9 114892536 114907097 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542025 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00256B HGDP00057 nsv471318 9 114892536 114907097 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545877 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LINC00256B HGDP00057 nsv515822 9 114892536 114907097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657332,nssv664886,nssv671249,nssv655746,nssv662338,nssv686541,nssv682010,nssv674886,nssv692138,nssv683659,nssv680579,nssv686967,nssv689011,nssv661213,nssv690087,nssv680026,nssv685701,nssv692342 M 2026 0 18 LINC00256B esv2421517 9 114892536 114914815 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5117060,essv5123603,essv5083936,essv5029345,essv5144144,essv5080904,essv5154754,essv5021168,essv5055030,essv5016669,essv5005737,essv5021981,essv5103667,essv5114639,essv5142507,essv5116843,essv5114677,essv5086469,essv5007160,essv5019420,essv5149022,essv5086059,essv5063505,essv5102907,essv5053336,essv5083029,essv5060469,essv5143233,essv5099585,essv5118945,essv5009362 M 1184 0 31 LINC00256B NA18871,NA19038,NA19377,NA19380,NA19382,NA19399,NA19443,NA19467,NA19470,NA19625,NA20126,NA20807,NA21339,NA21359,NA21361,NA21382,NA21388,NA21389,NA21414,NA21424,NA21453,NA21455,NA21473,NA21583,NA21596,NA21634,NA21647,NA21716,NA21717,NA21718,NA21722 dgv8272n71 9 114892536 114934061 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893737,nsv893738,nsv893736 M 6533 10 0 LINC00256A,LINC00256B IS35461,SP50521,SP50855,SP50997,SP55382,SP55808,SP55834,SP56003,SP56922,SP57201 nsv442164 9 114894172 114923574 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LINC00256A,LINC00256B dgv8273n71 9 114899044 114930830 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893739,nsv893741,nsv893740 M 6533 4 0 LINC00256A,LINC00256B SP50120,SP54768,SP55952,SP56887 esv1001772 9 114904808 114922900 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564425 S 3 0 0 LINC00256A,LINC00256B HuRef dgv8274n71 9 114907097 114957604 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893742,nsv893743 M 6533 4 0 LINC00256A,LINC00256B,SLC31A2 IS35408,IS36910,IS38211,MS14336 esv1720272 9 114913782 114914991 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196897 S 2 0 0 "" HuRef nsv466504 9 114930830 114945671 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542034 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00216 nsv466507 9 114945671 114976724 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542037 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FKBP15,SLC31A2 HGDP01171 nsv8563 9 114954097 114956972 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18055 S 31 1 0 Samples from several populations that are part of the HapMap project. SLC31A2 NA18980 nsv893744 9 114974673 115210048 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587090 S 6533 1 0 ALAD,BSPRY,CDC26,FKBP15,HDHD3,POLE3,PRPF4,RNF183,SLC31A1,WDR31 IS37986 esv2647679 9 114976286 114977784 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298342 S 1 0 1 FKBP15 NA18507 esv2238231 9 114976715 114977411 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780771 S 1 0 1 FKBP15 NA18507 esv4206 9 114976868 114977326 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26647 S 1 0 1 Single Asian sample YH FKBP15 YH esv7708 9 114976909 114977203 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30149 S 1 0 1 FKBP15 SJK esv995741 9 114976910 114977204 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581935 S 3 0 1 FKBP15 HuRef esv1117569 9 114976918 114977213 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3627019 S 2 0 1 FKBP15 HuRef nsv893745 9 114995092 115045604 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598713 S 6533 0 1 FKBP15,SLC31A1 IS40819 esv2564104 9 115009252 115010102 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166788 S 1 1 0 FKBP15 NA18507 nsv893746 9 115023361 115062647 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584354 S 6533 1 0 FKBP15,SLC31A1 IS36973 esv6353 9 115133363 115133414 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28794 S 1 1 0 WDR31 SJK nsv521449 9 115141212 115142284 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698060 S 2026 0 1 WDR31 nsv519849 9 115151228 115184794 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659065,nssv684748,nssv681147 M 2026 3 0 BSPRY,HDHD3 nsv819179 9 115172886 115173044 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419658 S 2 1 0 BSPRY AK1 nsv825053 9 115190808 115198813 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434363 S 31 0 1 ALAD NA18592 nsv893747 9 115253879 115426259 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546689 S 6533 0 1 RGS3 MS17208 esv1750461 9 115255415 115255583 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4109209 S 2 0 1 RGS3 HuRef nsv415849 9 115255641 115255904 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434427 M 24 RGS3 nsv466508 9 115284803 115402559 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542038 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RGS3 HGDP00746 nsv526579 9 115284803 115430983 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702897 S 2026 0 1 RGS3 nsv893748 9 115348530 115461607 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587091 S 6533 1 0 RGS3 IS37986 nsv466510 9 115403698 115437218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542039 S 1557 0 1 "" 1780862585_A nsv466511 9 115414811 115437218 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542040 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00787 nsv893749 9 115418580 115479570 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574513 S 6533 0 1 "" IS33588 esv2560176 9 115437139 115438984 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273711 S 1 0 1 "" NA18507 esv2299262 9 115437309 115438525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510599 S 1 0 1 "" NA18507 esv26945 9 115437595 115438360 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11509 S 451 0 4 "" NA18502,NA18861,NA18916,NA19257 esv33646 9 115437620 115437764 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95042 S 51 0 1 "" 22231 nsv516235 9 115439973 115446865 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704684,nssv700402,nssv655392,nssv681493,nssv657928,nssv662941,nssv702472,nssv694760,nssv679572,nssv657125,nssv692791,nssv690027,nssv699610,nssv666982,nssv697365 M 2026 3 12 "" esv32877 9 115462148 115462464 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100859,essv93655 M 51 0 2 "" 21656,21972 nsv466513 9 115484090 115512057 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542041 S 1557 0 1 "" 1780854392_A esv2043946 9 115502802 115503362 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4914094 S 1 0 1 "" NA18507 nsv6675 9 115512287 115545393 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1799 S 9 1 0 "" NA18555 nsv893750 9 115538848 117147984 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553816 S 6533 0 1 AKNA,AMBP,ATP6V1G1,C9orf91,COL27A1,DEC1,DFNB31,KIF12,LOC100505478,MIR455,ORM1,ORM2,TNC,TNFSF15,TNFSF8,ZNF618 MS20334 esv24633 9 115546254 115549767 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12963 S 451 0 1 "" NA19114 nsv825055 9 115677155 115681089 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422319 S 31 1 0 ZNF618 NA18547 nsv415373 9 115703051 115703284 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433951 M 24 ZNF618 esv1406827 9 115753529 115753529 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3864995 S 2 1 0 ZNF618 HuRef nsv521361 9 115813831 115820813 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697971 S 2026 1 0 ZNF618 nsv825056 9 115814711 115815613 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436832 S 31 1 0 ZNF618 NA18542 nsv522429 9 115822742 115822806 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705783 S 2026 1 0 ZNF618 nsv523823 9 115822742 115822806 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699654 S 2026 0 1 ZNF618 nsv521362 9 115822742 115825379 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697972 S 2026 0 1 ZNF618 dgv33e196 9 115832765 116406464 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array esv2422396,esv2422492 M 181 2 0 AKNA,AMBP,ATP6V1G1,COL27A1,DFNB31,KIF12,MIR455,ORM1,ORM2,ZNF618 ND00528,ND05067 dgv945n27 9 115850711 115906875 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466516,nsv466522,nsv466521,nsv466524,nsv466520,nsv466518,nsv466515,nsv466519,nsv466523,nsv466525,nsv466514 M 1557 11 0 AMBP,KIF12,ZNF618 HGDP00559,HGDP00561,HGDP00567,HGDP00572,HGDP00573,HGDP00578,HGDP00582,HGDP00584,HGDP00604,HGDP00606,HGDP00734 nsv471319 9 115855598 115906875 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545881,nssv545886,nssv545884,nssv545882,nssv545880,nssv545878,nssv545885,nssv545879,nssv545883 M 443 9 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AMBP,KIF12,ZNF618 HGDP00561,HGDP00572,HGDP00573,HGDP00578,HGDP00584,HGDP00600,HGDP00604,HGDP00617,HGDP00688 nsv528822 9 115855598 115906875 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705496 S 2026 1 0 AMBP,KIF12,ZNF618 esv989178 9 115868746 115873377 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563685 S 3 0 1 AMBP HuRef esv996359 9 115878822 115887707 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565430 S 3 0 1 AMBP HuRef nsv893751 9 115886288 115914176 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534431 S 6533 0 1 KIF12 MS11579 nsv515856 9 115893618 115906875 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665029,nssv692925,nssv701100 M 2026 2 1 KIF12 nsv893752 9 115939079 115984154 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587092 S 6533 1 0 COL27A1 IS37986 dgv946n27 9 115947269 115973270 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466527,nsv466529 M 1557 0 2 COL27A1 HGDP00976,NINDS_49 dgv947n27 9 115956752 115980239 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466530,nsv466531 M 1557 0 2 COL27A1 HGDP00774,NINDS_50 esv259420 9 115975218 115975663 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2393989,essv2394320 M 6 0 0 Samples from several populations that are part of the HapMap project. COL27A1 NA19239,NA19240 dgv948n27 9 115996089 116495996 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466535,nsv466534 M 1557 2 0 AKNA,ATP6V1G1,C9orf91,COL27A1,DFNB31,LOC100505478,MIR455,ORM1,ORM2 NINDS_133,NINDS_192 nsv6677 9 116016305 116049699 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5176 S 9 1 0 COL27A1 NA19129 nsv466536 9 116023891 116039449 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542061 S 1557 0 1 COL27A1 1798860192_A nsv893753 9 116055777 116068327 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578995 S 6533 0 1 COL27A1 IS35007 nsv893754 9 116055777 116139816 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546690 S 6533 0 1 AKNA,COL27A1,ORM1,ORM2 MS17208 nsv893755 9 116059622 116072010 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597293 S 6533 0 1 COL27A1 IS40799 nsv893756 9 116059622 116096672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530633 S 6533 0 1 COL27A1 MS10311 nsv893757 9 116061195 116160501 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587093 S 6533 1 0 AKNA,COL27A1,ORM1,ORM2 IS37986 dgv949n27 9 116085622 116145957 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466537,nsv466546,nsv466542,nsv466543,nsv466540,nsv466544,nsv466545,nsv466541,nsv466538 M 1557 9 0 AKNA,COL27A1,ORM1,ORM2 HGDP00567,HGDP00572,HGDP00573,HGDP00578,HGDP00582,HGDP00584,HGDP00600,HGDP00604,HGDP00734 nsv471320 9 116086942 116148486 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545895,nssv545897,nssv545890,nssv545902,nssv545892,nssv545900,nssv545889,nssv545901,nssv545888,nssv545899,nssv545896,nssv545891,nssv545893,nssv545894 M 443 12 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations AKNA,COL27A1,ORM1,ORM2 HGDP00559,HGDP00561,HGDP00572,HGDP00573,HGDP00578,HGDP00582,HGDP00584,HGDP00600,HGDP00604,HGDP00606,HGDP00617,HGDP00688 nsv528823 9 116086942 116148486 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705497 S 2026 1 0 AKNA,COL27A1,ORM1,ORM2 nsv466547 9 116088430 116113409 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542072 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL27A1 HGDP00688 nsv893758 9 116098075 116115632 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533768 S 6533 0 1 COL27A1 MS11306 nsv509319 9 116099287 116182706 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620927 S 4 1 0 AKNA,COL27A1,ORM1,ORM2 NA15510 nsv893759 9 116106644 116160501 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529820,nssv1534718 M 6533 0 2 AKNA,COL27A1,ORM1,ORM2 MS10123,MS11726 nsv522296 9 116111749 116113146 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695077 S 2026 0 1 COL27A1 nsv521043 9 116113146 116113409 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697751 S 2026 0 1 "" esv33804 9 116118480 116130096 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101514,essv97502,essv101150,essv93813,essv93824,essv96774,essv100985,essv95190,essv94705,essv94659,essv94009,essv101364,essv94342,essv97869,essv95575,essv95466,essv93042,essv97407,essv97344,essv101747,essv99095,essv92917,essv92733,essv96193,essv96625,essv96591,essv97181,essv95972,essv93578,essv93553,essv99580,essv99640,essv94999,essv95009,essv92664,essv96480,essv97732,essv100246,essv100578,essv100374,essv99441,essv96354 M 51 13 29 ORM1 21603,21616,21618,21634,21659,21693,21721,21791,21802,21805,21808,21837,21841,21847,21863,21879,21909,21938,21939,21944,22007,22011,22075,22127,22128,22217,22231,22233,22261,22278,22286,22298,22300,22335,22371 nsv893760 9 116120209 116132850 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1504578,nssv1512397 M 6533 2 0 ORM1,ORM2 SP52604,SP55469 esv2553920 9 116121366 116123892 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5342306 S 1 0 1 "" NA18507 esv2134811 9 116121683 116123370 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520769 S 1 0 1 "" NA18507 esv7106 9 116121830 116123205 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29547 S 1 0 1 "" SJK esv22321 9 116122657 116138104 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10226 S 451 4 0 AKNA,ORM1,ORM2 NA12004,NA15510,NA18861,NA18907 dgv8275n71 9 116124049 116132850 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893761,nsv893765 M 6533 2 0 ORM1,ORM2 SP50017,SP50120 nsv893762 9 116125196 116127885 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505361 S 6533 0 1 ORM1 SP53440 nsv893763 9 116125196 116132850 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510591,nssv1507390,nssv1513483,nssv1516061 M 6533 2 2 ORM1,ORM2 SP54661,SP54979,SP55787,SP56385 nsv893764 9 116125196 116136741 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513845 S 6533 1 0 AKNA,ORM1,ORM2 SP55851 dgv1233n67 9 116125838 116132913 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825059,nsv825057,nsv825058 M 31 3 0 ORM1,ORM2 AK16,NA18526,NA18570 esv2752277 9 116126092 116141066 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981910,essv6987082 M 771 1 0 AKNA,ORM1,ORM2 BEC_500 esv2462819 9 116130043 116137906 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5163114 S 1 0 1 AKNA,ORM2 NA18507 nsv831693 9 116156271 116321716 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447958 S 95 1 0 AKNA,DFNB31 nsv6678 9 116245132 116277665 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv830 S 9 1 0 DFNB31 NA19240 esv27525 9 116256437 116263296 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15598 S 451 1 0 DFNB31 NA12414 esv268175 9 116314551 116314730 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503815,essv2506628,essv2510418,essv2496980,essv2493843 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12761,NA19108,NA19172,NA19190,NA19210 nsv516723 9 116364829 116379062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689848,nssv688250,nssv677253,nssv682633,nssv670458 M 2026 0 5 "" nsv831694 9 116368461 116542606 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447959 S 95 1 0 ATP6V1G1,C9orf91,LOC100505478 nsv7433 9 116386435 116422207 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6293 S 9 0 0 ATP6V1G1,C9orf91 NA12156 esv1008480 9 116413651 116428501 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564147 S 3 0 1 C9orf91 HuRef nsv893766 9 116425813 116556239 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587094 S 6533 1 0 C9orf91,LOC100505478 IS37986 nsv520757 9 116433489 116433726 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697593 S 2026 1 0 C9orf91 nsv6679 9 116445516 116468988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3743 S 9 1 0 C9orf91,LOC100505478 NA12878 nsv825060 9 116523080 116524308 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427655 S 31 0 1 "" AK8 nsv831695 9 116607447 116766068 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447963,nssv1447960 M 95 2 0 TNFSF15,TNFSF8 nsv893767 9 116667390 116729659 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584355 S 6533 1 0 TNFSF8 IS36973 nsv7434 9 116702218 122607494 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5177 S 9 0 0 ASTN2,CDK5RAP2,DBC1,DEC1,FBXW2,LINC00474,LOC100128505,LOC100288842,MEGF9,MIR147,PAPPA,SNORA70C,TLR4,TNC,TNFSF8,TRIM32 NA19129 nsv6680 9 116730209 116739125 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8654 S 9 0 1 TNFSF8 NA12156 esv28417 9 116740484 116742104 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17578 S 451 0 1 "" NA19147 nsv519750 9 116740531 116741229 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658139,nssv661289 M 2026 0 2 "" nsv831696 9 116741403 116913971 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447964 S 95 1 0 TNC nsv519131 9 116836807 116844488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696611 S 2026 0 1 TNC esv3825 9 116851386 116853694 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26266 S 1 0 1 Single Asian sample YH TNC YH esv21967 9 116870772 116873769 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20116,esv16595 M 451 2 0 TNC NA12044,NA19114 nsv893768 9 116892924 116943796 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584356 S 6533 1 0 TNC IS36973 esv2422541 9 116896871 116898486 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5284048 S 1 0 1 TNC NA18507 esv1008522 9 116897591 116897802 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572132 S 3 0 1 TNC HuRef esv1713245 9 116897601 116897813 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808377 S 2 0 1 TNC HuRef nsv831697 9 116900237 117063748 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447965 S 95 0 1 DEC1,TNC nsv6681 9 116933747 116978430 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8655 S 9 0 1 DEC1 NA12156 nsv507528 9 116964614 116970614 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620457 S 4 1 0 DEC1 NA15510 esv269376 9 116968061 116968383 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514601,essv2517532,essv2514824,essv2515485,essv2515169,essv2514346,essv2517709,essv2516195,essv2515183,essv2518893,essv2518392 M 157 11 0 Samples from several populations that are part of the HapMap project. DEC1 NA11840,NA11918,NA12234,NA12249,NA12812,NA12874,NA12878,NA12891,NA19238,NA19239,NA19240 esv273535 9 116968065 116968379 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581901,essv2582605,essv2582964,essv2584080 M 7 4 0 Samples from several populations that are part of the HapMap project. DEC1 NA12878,NA12891,NA12892,NA19238 nsv893769 9 116976724 117025707 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585736 S 6533 0 1 DEC1 IS37639 nsv6682 9 117023880 117040248 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8656 S 9 0 1 DEC1 NA12156 esv2176591 9 117058776 117059203 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865250 S 1 0 1 DEC1 NA18507 nsv527294 9 117107787 117108543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703709 S 2026 0 1 DEC1 nsv525037 9 117117827 117121279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701081 S 2026 0 1 DEC1 esv1206387 9 117123701 117123701 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337604 S 2 1 0 DEC1 HuRef nsv512115 9 117148571 117150261 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624673 S 1 0 1 DEC1 1 esv2494923 9 117148990 117150679 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5176637 S 1 0 1 DEC1 NA18507 esv2068341 9 117149278 117149899 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4508564 S 1 0 1 DEC1 NA18507 esv3290 9 117149366 117149890 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25731 S 1 0 1 Single Asian sample YH DEC1 YH esv8511 9 117149476 117149804 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30952 S 1 0 1 DEC1 SJK esv1089105 9 117149477 117149822 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617266 S 2 0 1 DEC1 HuRef nsv519995 9 117197550 117203618 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660006,nssv660857,nssv679866 M 2026 0 3 DEC1 esv27380 9 117235771 117237198 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15906 S 451 0 1 "" NA15510 nsv893770 9 117253323 117339571 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584357 S 6533 1 0 "" IS36973 nsv893771 9 117283928 117372509 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588483 S 6533 0 1 "" IS38207 nsv523800 9 117299911 117302462 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699629 S 2026 0 1 "" nsv831698 9 117324080 117486277 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447967,nssv1447966 M 95 2 0 "" esv269074 9 117346191 117346508 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518712 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12045 nsv516318 9 117380637 117388776 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680686,nssv669082,nssv691548,nssv652763 M 2026 0 4 "" nsv831699 9 117496832 117681640 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447968,nssv1447969 M 95 1 1 "" nsv518670 9 117501644 117637658 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696120 S 2026 0 1 "" esv2477320 9 117549011 117550018 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5289325 S 1 1 0 "" NA18507 esv270383 9 117549535 117549820 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565727,essv2568181,essv2545348,essv2565531,essv2537591,essv2528208,essv2557203,essv2578694,essv2537181,essv2569742,essv2542927,essv2524545,essv2549302,essv2528728,essv2570235,essv2563664,essv2535541,essv2558964,essv2562458,essv2543033,essv2572091,essv2529594,essv2538847,essv2545140,essv2545813,essv2551472,essv2548879,essv2533429 M 157 28 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07051,NA11829,NA11995,NA12003,NA12812,NA12878,NA12891,NA18501,NA18510,NA18517,NA18520,NA18550,NA18555,NA18564,NA18579,NA18593,NA18603,NA18608,NA18638,NA18909,NA18965,NA18973,NA19093,NA19108,NA19172,NA19239,NA19257 esv272736 9 117549543 117549804 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584291,essv2583376 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv521497 9 117551864 117554265 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698111 S 2026 1 0 "" nsv6683 9 117584401 117601526 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9770 S 9 1 0 "" NA18507 esv27262 9 117602340 117614652 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20001 S 451 0 1 "" NA12044 nsv818719 9 117606840 117611249 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416883 S 112 0 1 "" NA12044 esv272505 9 117673372 117673714 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581027 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv271247 9 117673476 117673641 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510711,essv2507092,essv2501219,essv2499146,essv2509488,essv2511935 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18870,NA19093,NA19114,NA19129,NA19238 nsv831700 9 117723648 117874320 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447970 S 95 1 0 LINC00474 esv995715 9 117752056 117752973 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587098 S 3 0 1 "" HuRef nsv6684 9 117752221 117785751 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8657 S 9 1 0 "" NA12156 nsv893772 9 117753048 117804627 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587095 S 6533 1 0 "" IS37986 nsv825061 9 117796514 117797870 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432231 S 31 1 0 "" AK20 nsv825062 9 117797412 117797885 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425945 S 31 1 0 "" AK4 nsv6685 9 117819619 117852636 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3744 S 9 1 0 "" NA12878 nsv6686 9 117871387 117902868 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3745 S 9 1 0 "" NA12878 nsv825063 9 117952680 117959280 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425946 S 31 1 0 PAPPA AK4 nsv825064 9 118056752 118060597 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437600,nssv1431476 M 31 0 2 PAPPA AK18,NA18949 esv2047171 9 118091072 118091453 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845514 S 1 0 1 PAPPA NA18507 esv1223240 9 118091242 118091332 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3835100 S 2 0 1 PAPPA HuRef nsv893773 9 118177001 118302449 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538342 S 6533 1 0 ASTN2,PAPPA MS13694 nsv6688 9 118232427 118277637 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8658 S 9 0 1 ASTN2 NA12156 nsv893774 9 118238145 118287666 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587096 S 6533 1 0 ASTN2 IS37986 nsv831701 9 118287858 118445073 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447971 S 95 1 0 ASTN2,LOC100128505 nsv893775 9 118306516 118407129 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593805 S 6533 0 1 ASTN2,LOC100128505 IS39522 nsv6689 9 118381704 118413300 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10680 S 9 1 0 ASTN2 NA18956 nsv831702 9 118440134 118618586 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447974,nssv1447972 M 95 2 0 ASTN2,TRIM32 nsv893776 9 118445092 118677680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570066 S 6533 0 1 ASTN2,TRIM32 IS31778 nsv893777 9 118501096 118837389 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1550165 S 6533 0 1 ASTN2,TRIM32 MS18332 esv2479018 9 118516204 118517915 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325130 S 1 0 1 ASTN2 NA18507 esv2157560 9 118516683 118517414 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789467 S 1 0 1 ASTN2 NA18507 esv4962 9 118516846 118517332 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27403 S 1 0 1 Single Asian sample YH ASTN2 YH esv8743 9 118516901 118517231 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31184 S 1 0 1 ASTN2 SJK nsv519739 9 118549987 118594331 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697022 S 2026 0 1 ASTN2 nsv893778 9 118550346 118600905 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516389 S 6533 0 1 ASTN2 SP56828 esv22425 9 118552967 118555723 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10323 S 451 3 0 ASTN2 NA18505,NA18511,NA19129 esv259771 9 118553188 118555933 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394731,essv2397804,essv2397908,essv2395164,essv2399781,essv2399529 M 144 0 0 Samples from several populations that are part of the HapMap project. ASTN2 NA18498,NA18505,NA18907,NA19108,NA19129,NA19137 nsv516416 9 118558391 118576480 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689051,nssv668224,nssv683768,nssv660948,nssv679817,nssv681752 M 2026 6 0 ASTN2 nsv466548 9 118559409 118573078 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542073 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASTN2 HGDP00736 nsv8564 9 118562056 118577429 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18899 S 31 1 0 Samples from several populations that are part of the HapMap project. ASTN2 NA19173 dgv2417e1 9 118564482 118580455 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12136,esv1143 M 271 0 0 ASTN2 NA19173 nsv818720 9 118565469 118573558 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416580,nssv1416581 M 112 2 0 ASTN2 NA19172,NA19173 nsv466549 9 118565469 118576480 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542074 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASTN2 HGDP01270 nsv471321 9 118565469 118576480 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545904,nssv545903 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASTN2 HGDP00917,HGDP01270 nsv893779 9 118568299 118594331 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1512193 S 6533 0 1 ASTN2 SP55345 nsv521419 9 118580682 118584142 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698029 S 2026 0 1 ASTN2 esv275361 9 118586873 118589363 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585899 S 1250 0 1 ASTN2 nsv8565 9 118594045 118766995 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17944 S 31 0 1 Samples from several populations that are part of the HapMap project. ASTN2 NA10839 nsv893780 9 118612697 118658651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565961 S 6533 0 1 ASTN2 IS30539 nsv415481 9 118616155 118617904 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434059 M 24 ASTN2 esv1726642 9 118642648 118642648 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3884098 S 2 1 0 ASTN2 HuRef nsv528743 9 118653686 119327529 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705403 S 2026 1 0 ASTN2,SNORA70C nsv831704 9 118654542 118821789 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447975 S 95 1 0 ASTN2 nsv893781 9 118662259 118708319 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587097 S 6533 1 0 ASTN2 IS37986 nsv893782 9 118669388 118705031 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539130 S 6533 0 1 ASTN2 MS14210 nsv523606 9 118672438 118759527 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699400 S 2026 1 0 ASTN2 nsv893783 9 118677830 118879149 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536253 S 6533 0 1 ASTN2 MS12662 nsv525876 9 118727882 118734241 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702076 S 2026 0 1 ASTN2 nsv893784 9 118736412 118785751 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587098 S 6533 1 0 ASTN2 IS37986 esv2538663 9 118737814 118738664 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5340461 S 1 1 0 ASTN2 NA18507 nsv516642 9 118750009 118763078 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663035,nssv705708,nssv674787,nssv673327,nssv669822,nssv682217,nssv703571,nssv691564 M 2026 4 4 ASTN2 nsv893785 9 118750009 118798552 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598576 S 6533 0 1 ASTN2 IS40902 esv2514494 9 118805655 118806053 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180821 S 1 0 1 ASTN2 NA18507 nsv893786 9 118815427 118875611 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587099 S 6533 1 0 ASTN2 IS37986 nsv519360 9 118828951 118927398 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696810 S 2026 0 1 ASTN2 nsv818721 9 118861108 118863689 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415851,nssv1415852 M 112 0 2 ASTN2 NA10860,NA11992 dgv8276n71 9 118945571 118995803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893787,nsv893788 M 6533 0 2 ASTN2,SNORA70C SP55789,SP81354 esv1936473 9 118962319 118962758 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4649416 S 1 0 1 ASTN2 NA18507 nsv893789 9 118963087 119007784 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587100 S 6533 1 0 ASTN2,SNORA70C IS37986 esv32690 9 118979210 118987991 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99402 S 51 1 0 ASTN2,SNORA70C 22335 esv33017 9 118988743 118992006 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100649 S 51 1 0 ASTN2 21656 esv32663 9 118997522 118997843 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100694 S 51 1 0 ASTN2 21656 nsv831705 9 118997883 119170978 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447976 S 95 1 0 ASTN2 esv271502 9 119048234 119051361 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514498 S 157 1 0 Samples from several populations that are part of the HapMap project. ASTN2 NA12874 nsv893790 9 119055658 119125525 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587101 S 6533 1 0 ASTN2 IS37986 nsv415499 9 119142462 119148110 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434077 M 24 ASTN2 nsv893791 9 119200499 119314092 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587102 S 6533 1 0 ASTN2 IS37986 nsv527834 9 119327529 119337559 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704330 S 2026 0 1 "" esv275542 9 119337345 119338453 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2586119 S 1250 0 1 "" nsv831706 9 119362021 119548855 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447977 S 95 1 0 TLR4 esv2541948 9 119429984 119431059 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277560 S 1 1 0 "" NA18507 esv272268 9 119430520 119430875 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579865 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12892 esv268336 9 119430523 119430859 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546158,essv2543906,essv2545396,essv2577504,essv2570644,essv2548368,essv2554082,essv2529064,essv2558288,essv2577880,essv2546931,essv2521027,essv2557398,essv2551745,essv2562659,essv2569218,essv2538916,essv2561672,essv2544579,essv2562830,essv2542756,essv2524452,essv2561230,essv2549290,essv2560084,essv2529061,essv2570172,essv2553374,essv2572331,essv2550912,essv2543711,essv2556158,essv2527850,essv2555639,essv2566561,essv2529966,essv2557606,essv2534317,essv2573662,essv2576971,essv2526945,essv2575421,essv2575126,essv2548137,essv2549621,essv2536115,essv2549100 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11881,NA11992,NA12003,NA12043,NA12044,NA12045,NA12287,NA12749,NA12750,NA12761,NA12892,NA18498,NA18499,NA18504,NA18507,NA18508,NA18519,NA18523,NA18526,NA18532,NA18550,NA18555,NA18562,NA18564,NA18570,NA18579,NA18593,NA18605,NA18609,NA18858,NA18870,NA18871,NA18907,NA18945,NA18948,NA18949,NA18953,NA18959,NA18964,NA18970,NA19005,NA19099,NA19102,NA19210,NA19225 esv1374224 9 119440779 119440779 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342956 S 2 1 0 "" HuRef nsv893792 9 119525616 119646692 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575458 S 6533 0 1 "" IS33747 esv34057 9 119673318 119854073 CNV Loss Gusev et al 2009 18971310 SNP_array,SNP_genotyping_analysis [Mapping250K_Nsp + 250K_Sty] Affymetrix Mapping 250K Nsp + Sty2 SNP Array "" S 270 "" nsv831707 9 119736539 119920282 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447979,nssv1447978,nssv1447980,nssv1447981 M 95 4 0 "" nsv6690 9 119811073 119845740 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2821 S 9 1 0 "" NA18555 nsv893793 9 119915506 120037690 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587103 S 6533 1 0 "" IS37986 esv2597535 9 119988182 119989856 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321752 S 1 0 1 "" NA18507 nsv825066 9 120073364 120074544 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1429979,nssv1440497,nssv1429232,nssv1428469 M 31 0 4 "" AK10,AK12,AK14,NA18564 esv26062 9 120073517 120074702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10735 S 451 0 1 "" NA15510 dgv8277n71 9 120084863 120361322 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893796,nsv893794 M 6533 0 2 "" IS37293,MS26137 nsv893795 9 120091774 120345735 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587104 S 6533 1 0 "" IS37986 nsv893797 9 120152185 120229916 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1582212 S 6533 0 1 "" IS35853 nsv517914 9 120198462 120832020 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695326 S 2026 1 0 "" nsv893798 9 120209331 120651733 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505305 S 6533 1 0 "" SP53349 nsv893799 9 120230961 120361322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575459 S 6533 0 1 "" IS33747 nsv6691 9 120265496 120278401 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10681 S 9 1 0 "" NA18956 dgv8278n71 9 120293663 120361322 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893800,nsv893801 M 6533 0 4 "" IS35675,MS11105,MS20813,MS23257 nsv528108 9 120365342 120385500 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704649 S 2026 1 0 "" esv1139656 9 120411341 120411396 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4285195 S 2 0 1 "" HuRef esv997826 9 120411364 120411418 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566016 S 3 0 1 "" HuRef nsv6692 9 120420742 120447406 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9771,nssv831,nssv3746 M 9 3 0 "" NA12878,NA18507,NA19240 esv267620 9 120434361 120440516 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502937,essv2494057,essv2497108 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18871,NA19190 nsv893802 9 120543089 120599174 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587105 S 6533 1 0 "" IS37986 esv8456 9 120550180 120550284 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30897 S 1 1 0 "" SJK nsv415646 9 120550354 120550354 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434224 M 24 "" esv29605 9 120565450 120566467 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15739 S 451 0 1 "" NA19114 esv259711 9 120573959 120577813 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397831,essv2400104 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA18861 esv26492 9 120574090 120577661 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19583 S 451 2 0 "" NA18505,NA18861 nsv825067 9 120630805 120631631 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434374,nssv1433811 M 31 0 2 "" NA18526,NA18592 esv259877 9 120648453 120656557 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399347 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18522 nsv893803 9 120764580 121007778 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587106 S 6533 1 0 DBC1 IS37986 nsv6693 9 120787193 120820161 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv832 S 9 1 0 "" NA19240 nsv825068 9 120788480 120791090 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430743 S 31 0 1 "" AK16 esv1742379 9 120842444 120842444 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3826448 S 2 1 0 "" HuRef esv270732 9 120874657 120874911 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518580,essv2514983,essv2517961,essv2514240 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12812,NA12872,NA12874 nsv893804 9 121047881 121107062 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584358 S 6533 1 0 DBC1 IS36973 esv275135 9 121048820 121053187 CNV Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585165 S 1250 0 1 DBC1 nsv831708 9 121095294 121277455 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447982 S 95 0 1 DBC1 nsv527574 9 121121639 121130291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704035 S 2026 0 1 DBC1 esv5965 9 121129288 121129369 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28406 S 1 1 0 DBC1 SJK nsv893805 9 121147182 121222402 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598319 S 6533 0 1 DBC1 IS40890 nsv6694 9 121261961 121306677 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5178 S 9 0 1 "" NA19129 nsv415634 9 121285532 121294790 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434212 M 24 "" esv2381520 9 121299325 121299762 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4865506 S 1 0 1 "" NA18507 nsv893806 9 121316480 121392173 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584359 S 6533 1 0 "" IS36973 nsv6695 9 121328598 121362959 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9923 S 9 0 1 "" NA18507 dgv2418e1 9 121329008 121343435 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13316,esv1129 M 271 0 0 "" NA18507 esv2596027 9 121330676 121345142 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178244 S 1 0 1 "" NA18507 esv2201567 9 121331036 121344640 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4502460 S 1 0 1 "" NA18507 nsv499743 9 121331226 121344463 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586121 S 9 0 1 "" esv25902 9 121331266 121344462 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10571 S 451 0 1 "" NA19108 esv2620024 9 121331566 121343722 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370758 S 1 0 1 "" NA18507 nsv831709 9 121432939 121613331 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447983,nssv1447985 M 95 2 0 "" nsv528754 9 121509355 121514717 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705416 S 2026 0 1 "" esv28031 9 121566286 121568562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20040 S 451 0 1 "" NA12287 nsv893807 9 121566595 121609713 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587107 S 6533 1 0 "" IS37986 esv2561913 9 121570685 121572378 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5231846 S 1 0 1 "" NA18507 esv1996475 9 121571457 121572174 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4648538 S 1 0 1 "" NA18507 esv4224 9 121571602 121572085 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26665 S 1 0 1 Single Asian sample YH "" YH nsv416583 9 121571656 121571973 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435161 M 24 "" esv1001209 9 121571657 121571974 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3566148 S 3 0 1 "" HuRef esv1570190 9 121571666 121571984 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3883110 S 2 0 1 "" HuRef esv8248 9 121571668 121571973 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30689 S 1 0 1 "" SJK esv1549905 9 121602077 121602077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3806920 S 2 1 0 "" HuRef esv1625007 9 121602097 121602097 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4175166 S 2 1 0 "" HuRef nsv831710 9 121616142 121782325 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447986 S 95 1 0 "" dgv496n21 9 121629675 121631118 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv521735,nsv525584 M 2026 0 2 "" nsv466553 9 121642899 121680240 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542076 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00837 nsv6696 9 121831209 121876184 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8659 S 9 0 1 "" NA12156 nsv6697 9 121884264 121929663 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6294 S 9 0 1 "" NA12156 nsv526970 9 121927166 121930775 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703342 S 2026 1 0 "" nsv523086 9 121927166 121934343 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698778 S 2026 0 1 "" esv270929 9 121960798 121961132 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2502162 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19257 nsv893808 9 122036241 122125190 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600825 S 6533 0 1 MIR147 IS41927 esv5874 9 122057473 122057526 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28315 S 1 1 0 "" SJK esv1143934 9 122063088 122063088 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138380 S 2 1 0 "" HuRef nsv510205 9 122065743 122071743 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622182,nssv621365,nssv618320 M 4 0 3 "" CHM,NA10860,NA15510 esv271037 9 122094968 122095306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514586,essv2517401,essv2516973,essv2514103,essv2518662,essv2514753,essv2515407,essv2515058,essv2516353,essv2515735,essv2518005,essv2515966,essv2514410,essv2517686,essv2517306,essv2518271,essv2519419,essv2513576 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA07347,NA11840,NA11918,NA11931,NA12043,NA12045,NA12234,NA12249,NA12812,NA12814,NA12815,NA12872,NA12873,NA12874,NA12878,NA18970,NA19240 esv272903 9 122094968 122095306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581232 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1296082 9 122095002 122095002 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338369 S 2 1 0 "" HuRef esv7750 9 122174929 122175026 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30191 S 1 1 0 "" SJK esv1307122 9 122175084 122175084 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867879 S 2 1 0 "" HuRef nsv825069 9 122260772 122334061 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439008 S 31 1 0 CDK5RAP2 NA18973 nsv6699 9 122271974 122281393 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1800 S 9 0 1 CDK5RAP2 NA18555 nsv825070 9 122293450 122301994 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421887 S 31 1 0 CDK5RAP2 NA18997 esv33143 9 122293522 122510910 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100043 S 51 0 1 CDK5RAP2,MEGF9 22086 esv2647244 9 122294944 122299882 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355961 S 1 0 1 CDK5RAP2 NA18507 esv2487988 9 122296400 122300509 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5267308 S 1 0 1 CDK5RAP2 NA18507 esv1966921 9 122296660 122299750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762008 S 1 0 1 CDK5RAP2 NA18507 esv7137 9 122296857 122299549 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29578 S 1 0 1 CDK5RAP2 SJK nsv831711 9 122305129 122507462 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447987 S 95 1 0 CDK5RAP2,MEGF9 esv2294531 9 122436355 122436864 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4691870 S 1 0 1 MEGF9 NA18507 nsv526071 9 122507391 122599313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702311 S 2026 0 1 FBXW2,LOC100288842,MEGF9 nsv893809 9 122579612 122708020 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587108 S 6533 1 0 FBXW2,LOC100288842,LOC253039,PHF19,PSMD5,TRAF1 IS37986 nsv517321 9 122589848 122599313 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681052,nssv667764,nssv685989,nssv677381,nssv651713,nssv682531 M 2026 0 6 FBXW2,LOC100288842 dgv2419e1 9 122688018 122882816 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv2463,esv459 M 271 0 0 C5,TRAF1 NA18999 nsv8566 9 122694549 122698960 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21653 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18972 esv32780 9 122697002 122697372 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98773,essv100915,essv98296,essv99783 M 51 3 1 "" 21606,21693,21772,22086 nsv6700 9 122699068 122732113 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8660 S 9 1 0 TRAF1 NA12156 nsv893810 9 122749962 122764329 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519452 S 6533 1 0 C5 SP81036 nsv507529 9 122776897 122782897 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620458,nssv621949,nssv623079 M 4 3 0 C5 NA10860,NA15510,NA18994 nsv893811 9 122835667 122849711 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505306 S 6533 1 0 C5 SP53349 nsv893812 9 122835667 122857434 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515768 S 6533 0 1 C5 SP56267 esv23303 9 122889434 122900004 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13304 S 451 0 1 CNTRL NA18907 esv1148139 9 122894672 122894841 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659145 S 2 0 1 CNTRL HuRef nsv825071 9 122924791 122925950 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425947 S 31 0 1 CNTRL AK4 nsv820290 9 122983642 122984996 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419243 S 2 0 1 RAB14 AK1 esv270375 9 123079726 123079846 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510569,essv2498380,essv2499910,essv2500148,essv2508164,essv2512897,essv2511067,essv2497969,essv2502424,essv2495209,essv2503585 M 157 11 0 Samples from several populations that are part of the HapMap project. GSN NA06986,NA18501,NA18526,NA18562,NA18573,NA18579,NA18609,NA18944,NA18945,NA18948,NA18964 nsv893813 9 123097503 123175155 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539203 S 6533 1 0 GSN,STOM MS14258 esv275433 9 123216978 123226015 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585693,essv2585860 M 1250 1 1 "" nsv821491 9 123266178 123267670 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420822 S 1 1 0 GGTA1P NA10851 esv259531 9 123266623 123267691 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394183,essv2393921 M 6 0 0 Samples from several populations that are part of the HapMap project. GGTA1P NA12878,NA12891 esv259909 9 123266637 123267748 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398619,essv2396739,essv2400017,essv2396092,essv2399028,essv2396546,essv2397542,essv2396028,essv2396220,essv2397552,essv2398098,essv2396806,essv2396286,essv2395411,essv2397981,essv2399614,essv2397322,essv2401071,essv2399911,essv2398551,essv2394674,essv2394821 M 144 0 0 Samples from several populations that are part of the HapMap project. GGTA1P NA06986,NA07000,NA07051,NA07346,NA10851,NA11919,NA11992,NA12003,NA12006,NA12044,NA12144,NA12249,NA12716,NA12749,NA12751,NA12761,NA12878,NA12891,NA18504,NA18516,NA18870,NA19114 esv22653 9 123266766 123267579 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17776 S 451 0 27 GGTA1P NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12156,NA12239,NA12287,NA15510,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv831712 9 123305803 123461381 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447988 S 95 0 1 DAB2IP,MIR548AA1,MIR548D1 nsv520039 9 123329883 123402323 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686695,nssv702919,nssv682718,nssv660192 M 2026 0 4 DAB2IP nsv471468 9 123366268 123400807 CNV Deletion Alkan et al 2009 19718026 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen nssv548366,nssv548365 M 3 DAB2IP esv29959 9 123371378 123421714 CNV Loss Wheeler et al 2008 18421352 Oligo_aCGH,Read-depth_analysis Agilent-014584 Human Genome 244K CGH Microarray (Alpha Test) essv84198 S 3 0 1 DAB2IP,MIR548AA1,MIR548D1 WATSON nsv893814 9 123384259 123618159 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587109 S 6533 1 0 DAB2IP,MIR548AA1,MIR548D1 IS37986 esv2381592 9 123398510 123399044 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4634604 S 1 0 1 DAB2IP NA18507 nsv893815 9 123429574 123534685 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1535151 S 6533 1 0 DAB2IP,MIR548AA1,MIR548D1 MS12041 esv5432 9 123451256 123451902 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27873 S 1 0 1 Single Asian sample YH DAB2IP,MIR548AA1,MIR548D1 YH esv2014609 9 123455118 123455534 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4579050 S 1 0 1 DAB2IP,MIR548AA1,MIR548D1 NA18507 esv1010772 9 123455266 123455325 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570975 S 3 0 1 DAB2IP,MIR548AA1,MIR548D1 HuRef nsv518762 9 123478553 123556411 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696212 S 2026 1 0 DAB2IP,MIR548AA1,MIR548D1 dgv8279n71 9 123549071 123654317 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893816,nsv893817 M 6533 0 2 DAB2IP,MIR548AA1,MIR548D1,TTLL11 MS10123,MS11306 nsv893818 9 123600674 123654317 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537097 S 6533 0 1 MIR548AA1,MIR548D1,TTLL11 MS13095 nsv525090 9 123613326 123621582 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701149 S 2026 0 1 MIR548AA1,MIR548D1 nsv521711 9 123644085 123650357 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698337 S 2026 0 1 MIR548AA1,MIR548D1,TTLL11 nsv527192 9 123645717 123650357 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703589 S 2026 1 0 MIR548AA1,MIR548D1,TTLL11 nsv521251 9 123647015 123647524 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690249,nssv688539 M 2026 2 0 MIR548AA1,MIR548D1,TTLL11 esv1964984 9 123681647 123682131 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4994441 S 1 0 1 MIR548AA1,MIR548D1,TTLL11 NA18507 esv4168 9 123681731 123682065 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26609 S 1 0 1 Single Asian sample YH MIR548AA1,MIR548D1,TTLL11 YH nsv416918 9 123681823 123681955 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435496 M 24 MIR548AA1,MIR548D1,TTLL11 esv997735 9 123681835 123681967 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581617 S 3 0 1 MIR548AA1,MIR548D1,TTLL11 HuRef esv1064857 9 123681842 123681975 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742120 S 2 0 1 MIR548AA1,MIR548D1,TTLL11 HuRef esv3570 9 123697557 123698060 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26011 S 1 0 1 Single Asian sample YH MIR548AA1,MIR548D1,TTLL11 YH nsv831713 9 123715746 123912204 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447989,nssv1447990 M 95 2 0 MIR548AA1,MIR548D1,TTLL11 nsv522145 9 123720188 123743153 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694918 S 2026 0 1 MIR548AA1,MIR548D1,TTLL11 nsv509320 9 123753461 123822519 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620929 S 4 1 0 MIR548AA1,MIR548D1,TTLL11 NA15510 nsv416108 9 123802598 123805044 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434686 M 24 TTLL11 nsv6701 9 123812226 123846448 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8661 S 9 1 0 TTLL11 NA12156 nsv831715 9 123868712 124028820 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447991 S 95 1 0 LHX6,MIR4478,MORN5,NDUFA8,TTLL11 nsv525442 9 123892107 123925417 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701570 S 2026 1 0 MIR4478,TTLL11 nsv819467 9 123894894 123898335 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419542 S 2 1 0 TTLL11 AK1 esv2276611 9 123912537 123912922 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644837 S 1 0 1 "" NA18507 esv26681 9 123914457 123941198 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10636 S 451 1 0 MIR4478 NA07037 nsv893819 9 123941762 123993381 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584360 S 6533 1 0 MORN5,NDUFA8 IS36973 nsv6702 9 123953920 123986194 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6295 S 9 1 0 MORN5,NDUFA8 NA12156 dgv8280n71 9 123989565 124032492 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893821,nsv893820 M 6533 0 2 LHX6,MORN5 MS10311,MS16153 nsv523017 9 124041806 124047714 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698693 S 2026 0 1 RBM18 nsv416680 9 124047930 124052168 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435258 M 24 RBM18 nsv831716 9 124091402 124277540 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447992 S 95 1 0 MRRF,PTGS1 nsv6703 9 124121298 124154057 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3748 S 9 1 0 MRRF NA12878 esv2417467 9 124193277 124193661 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803736 S 1 0 1 PTGS1 NA18507 nsv416964 9 124193430 124193494 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435542 M 24 PTGS1 nsv893822 9 124209751 124404029 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587110 S 6533 1 0 OR1J1,OR1J2,OR1J4,OR1L8,OR1N1,OR1N2 IS37986 esv2649138 9 124227239 124228732 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5328873 S 1 0 1 "" NA18507 nsv6704 9 124263848 124308764 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8662 S 9 0 1 OR1J1 NA12156 nsv516572 9 124285545 124289305 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674864,nssv673415,nssv669262 M 2026 3 0 "" nsv893823 9 124295182 124462686 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586177,nssv1589573 M 6533 0 2 OR1B1,OR1J2,OR1J4,OR1L8,OR1N1,OR1N2,OR1Q1 IS37683,IS38384 nsv893824 9 124316688 124367147 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1542208 S 6533 0 1 OR1J4,OR1N1,OR1N2 MS15709 esv22700 9 124353552 124359587 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18822 S 451 0 1 OR1N2 NA12287 nsv6705 9 124419848 124450167 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8663 S 9 1 0 OR1B1 NA12156 esv6464 9 124475705 124479799 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28905 S 1 0 0 OR1L3 SJK nsv416421 9 124481105 124481256 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434999 M 24 "" esv270569 9 124525830 124526260 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500965,essv2507048 M 157 2 0 Samples from several populations that are part of the HapMap project. OR1L4 NA18856,NA18870 esv2472134 9 124526774 124553896 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5225129 S 1 0 1 OR1L4,OR1L6 NA18507 esv1613347 9 124575966 124575966 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4034423 S 2 1 0 "" HuRef nsv518250 9 124582020 124596539 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695681 S 2026 0 1 OR5C1 esv1374808 9 124669993 124670042 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3667292 S 2 0 1 RC3H2 HuRef esv33734 9 124721961 124731790 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99992 S 51 0 1 ZBTB26 22086 nsv893825 9 124723677 125094662 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587111 S 6533 1 0 GPR21,MIR600,MIR600HG,RABGAP1,STRBP,ZBTB26 IS37986 nsv831717 9 124820910 124974885 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447994,nssv1447993 M 95 2 0 GPR21,MIR600,MIR600HG,RABGAP1,STRBP nsv517807 9 124901562 124912719 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695213 S 2026 0 1 MIR600HG,RABGAP1 nsv6706 9 125044188 125078298 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8665 S 9 1 0 STRBP NA12156 nsv893826 9 125066362 125118194 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553083 S 6533 0 1 STRBP MS19721 esv25223 9 125068236 125070962 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12059,esv20640 M 451 0 5 STRBP NA07037,NA12006,NA12287,NA12414,NA18861 esv1008345 9 125068731 125070271 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587248 S 3 0 1 STRBP HuRef nsv518647 9 125089796 125236025 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696096 S 2026 0 1 CRB2,DENND1A,MIR601 nsv6707 9 125127760 125161076 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5180 S 9 1 0 CRB2 NA19129 esv24974 9 125148297 125150097 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12471 S 451 0 1 "" NA12414 esv2444551 9 125149514 125150289 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5272608 S 1 1 0 "" NA18507 nsv893827 9 125157379 125322820 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587112 S 6533 1 0 CRB2,DENND1A,MIR601 IS37986 nsv512116 9 125206604 125208166 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624674 S 1 0 1 DENND1A 1 esv23766 9 125206663 125208562 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16601 S 451 0 1 DENND1A NA18861 nsv521578 9 125357145 125363871 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698194 S 2026 0 1 DENND1A esv271079 9 125379732 125380007 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496363,essv2506063,essv2504863,essv2499089,essv2493899,essv2501838 M 157 6 0 Samples from several populations that are part of the HapMap project. DENND1A NA18510,NA18523,NA19099,NA19114,NA19210,NA19239 esv274634 9 125379738 125379958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578898 S 7 1 0 Samples from several populations that are part of the HapMap project. DENND1A NA19239 esv1000891 9 125417849 125431608 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565018 S 3 0 1 DENND1A HuRef nsv893828 9 125488480 125587911 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589636 S 6533 0 1 DENND1A IS38390 esv23680 9 125542835 125543330 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15199 S 451 0 1 DENND1A NA19129 nsv831718 9 125562178 125712321 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447996 S 95 0 1 DENND1A esv1395376 9 125604604 125604604 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4064721 S 2 1 0 DENND1A HuRef nsv6708 9 125636665 125661893 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9473 S 9 1 0 DENND1A NA18517 esv2592095 9 125656377 125658206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263497 S 1 0 1 DENND1A NA18507 esv2007710 9 125656701 125657618 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908385 S 1 0 1 DENND1A NA18507 esv24500 9 125656928 125657614 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17373 S 451 0 3 DENND1A NA18508,NA18907,NA19114 esv989009 9 125725746 125727542 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586970 S 3 0 1 DENND1A HuRef nsv7435 9 125739837 125832880 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11205,nssv10682,nssv11204,nssv6296,nssv3750,nssv10683,nssv9474,nssv3749,nssv6297 M 9 0 0 LHX2 NA12156,NA12878,NA15510,NA18517,NA18956 nsv45 9 125752406 125783379 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv45 S 1 0 0 "" NA15510 nsv893829 9 125757279 125795639 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513042 S 6533 0 1 "" SP55671 nsv825072 9 125764201 125837446 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439009 S 31 1 0 LHX2 NA18973 esv26252 9 125773778 125776173 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10441 S 451 0 1 "" NA12414 esv2179575 9 125775522 125775859 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902277 S 1 0 1 "" NA18507 nsv435967 9 125778256 125792519 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466553 S 2 0 0 "" NA15510 nsv499105 9 125778472 125795350 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585574 S 9 0 0 "" esv1001859 9 125778562 125797154 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564048 S 3 0 0 "" HuRef nsv47 9 125789391 125822826 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv47 S 1 0 0 LHX2 NA15510 nsv893830 9 125796461 125819315 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505985,nssv1510781 M 6533 0 2 LHX2 SP54043,SP54988 nsv825073 9 125796950 125837352 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436833 S 31 1 0 LHX2 NA18542 nsv893831 9 125857931 125880407 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587113 S 6533 1 0 "" IS37986 nsv831719 9 125895437 126082041 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447997 S 95 1 0 NEK6 nsv831720 9 125895769 126064869 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447998 S 95 0 1 NEK6 nsv6710 9 125901168 125911271 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3751 S 9 1 0 "" NA12878 nsv516649 9 125965852 125967106 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669877,nssv677044 M 2026 0 2 "" nsv819269 9 125976053 125982206 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419756 S 2 0 1 "" AK1 nsv893832 9 126005217 126036900 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587114 S 6533 1 0 "" IS37986 nsv6711 9 126019350 126064151 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8666 S 9 0 1 NEK6 NA12156 nsv416631 9 126035589 126035974 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435209 M 24 "" nsv471322 9 126049935 126159263 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545908,nssv545910,nssv545907,nssv545911,nssv545906,nssv545905 M 443 0 6 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100129034,NEK6,PSMB7 HGDP00288,HGDP00290,HGDP00315,HGDP00323,HGDP00789,HGDP00951 nsv519767 9 126050083 126166993 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674014,nssv685856,nssv688352,nssv660877,nssv692234,nssv658400,nssv683298,nssv679769,nssv683358 M 2026 0 9 LOC100129034,NEK6,PSMB7 nsv825074 9 126058171 126061512 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422441 S 31 1 0 NEK6 NA18547 nsv893833 9 126089586 126244533 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584361 S 6533 1 0 LOC100129034,NEK6,PSMB7 IS36973 nsv893834 9 126232728 126314672 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573834,nssv1529822 M 6533 0 2 GPR144,NR5A1 IS33504,MS10123 esv7453 9 126234831 126234914 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29894 S 1 1 0 "" SJK esv1225202 9 126247094 126247094 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092229 S 2 1 0 "" HuRef esv1583023 9 126247114 126247163 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599814 S 2 0 1 "" HuRef nsv466558 9 126266513 126360025 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542077 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR144,NR5A1,NR6A1 HGDP00774 nsv893835 9 126268454 126286998 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509933 S 6533 0 1 GPR144,NR5A1 SP54956 nsv517372 9 126269939 126314672 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651837,nssv698798,nssv672202,nssv654925,nssv667955 M 2026 0 5 GPR144,NR5A1 nsv466559 9 126269939 126329039 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542078 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR144,NR5A1,NR6A1 HGDP00515 nsv893836 9 126270712 126294344 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511416 S 6533 0 1 GPR144,NR5A1 SP55021 nsv526209 9 126273028 126334006 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702473 S 2026 1 0 GPR144,NR5A1,NR6A1 nsv6712 9 126324741 126348261 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8667 S 9 0 1 NR6A1 NA12156 nsv893837 9 126381438 126575813 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587115 S 6533 1 0 MIR181A2,MIR181A2HG,MIR181B2,NR6A1 IS37986 nsv6713 9 126393083 126428290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv833 S 9 1 0 NR6A1 NA19240 nsv831721 9 126474147 126661976 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1447999 S 95 1 0 MIR181A2,MIR181A2HG,MIR181B2,NR6A1,OLFML2A,RPL35,WDR38 esv2457492 9 126557221 126558718 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5191832 S 1 0 1 NR6A1 NA18507 esv2482264 9 126568246 126569753 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352499 S 1 0 1 NR6A1 NA18507 nsv524034 9 126610461 126613571 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699897 S 2026 0 1 OLFML2A nsv825075 9 126737944 126738422 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426861 S 31 0 1 GOLGA1 AK6 esv2442459 9 126745032 126746599 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5211971 S 1 0 1 SCAI NA18507 nsv893838 9 126832706 126988142 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587116 S 6533 1 0 PPP6C,SCAI IS37986 nsv893839 9 126916102 126942316 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500199 S 6533 0 1 SCAI SP50649 nsv436612 9 126984812 126991043 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466554 S 2 0 1 Samples from several populations that are part of the HapMap project. PPP6C NA18505 esv23913 9 126987492 126990100 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14125 S 451 0 1 PPP6C NA18505 esv2599223 9 127067419 127067938 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5367738 S 1 1 0 GAPVD1 NA18507 esv1528230 9 127095768 127095768 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3846527 S 2 1 0 GAPVD1 HuRef nsv831722 9 127104199 127278179 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448000 S 95 1 0 GAPVD1,MAPKAP1 nsv515979 9 127190605 127267847 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654926,nssv700721,nssv665572 M 2026 0 3 MAPKAP1 esv1597155 9 127260993 127260993 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165388 S 2 1 0 MAPKAP1 HuRef nsv6714 9 127376096 127392490 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9772 S 9 1 0 MAPKAP1 NA18507 nsv825077 9 127391656 127429633 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439010 S 31 1 0 MAPKAP1 NA18973 nsv466560 9 127443330 127506342 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542079 S 1557 0 1 MAPKAP1 1780854441_A nsv825078 9 127517609 127594562 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439011 S 31 1 0 PBX3 NA18973 nsv512117 9 127525702 127529051 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624675 S 1 0 1 "" 1 nsv818723 9 127528615 127539435 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416084 S 112 1 0 "" NA12813 nsv825079 9 127548168 127551254 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422564 S 31 1 0 PBX3 NA18547 esv26440 9 127548386 127550446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18803 S 451 0 1 PBX3 NA07045 esv1270380 9 127583087 127583087 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3867887 S 2 1 0 PBX3 HuRef dgv8281n71 9 127586180 127837372 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893840,nsv893841 M 6533 0 2 PBX3 IS35701,MS19808 nsv6715 9 127605252 127631795 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3752,nssv5181,nssv834,nssv10684 M 9 4 0 PBX3 NA12878,NA18956,NA19129,NA19240 esv987876 9 127616144 127616766 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565432 S 3 1 0 PBX3 HuRef esv268501 9 127674221 127674306 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517196 S 157 1 0 Samples from several populations that are part of the HapMap project. PBX3 NA18970 nsv416676 9 127701304 127701363 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435254 M 24 PBX3 dgv2420e1 9 127782685 127805710 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv999,essv6492 M 271 0 0 "" NA18636 esv2611381 9 127787093 127787909 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369973 S 1 1 0 "" NA18507 nsv525591 9 127788001 127840245 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701733 S 2026 0 1 "" nsv893842 9 127788222 127825731 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530635 S 6533 0 1 "" MS10311 nsv893843 9 127788222 127898418 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529823 S 6533 0 1 "" MS10123 nsv893844 9 127813209 127876380 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587117 S 6533 1 0 "" IS37986 esv1687310 9 127815313 127815366 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4266637 S 2 0 1 "" HuRef nsv522609 9 127831324 127832800 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706001 S 2026 0 1 "" nsv6716 9 127904911 127936666 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10685 S 9 1 0 "" NA18956 dgv2421e1 9 127915778 128076779 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1394,esv79 M 271 0 0 "" NA19007 nsv527902 9 127951167 127960291 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704406 S 2026 0 1 "" nsv518876 9 127955669 127958271 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696334 S 2026 0 1 "" nsv466562 9 127955669 127966810 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542081 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00870 nsv524301 9 127969592 127987296 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700202 S 2026 1 0 "" nsv893845 9 127977496 128098076 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587118 S 6533 1 0 "" IS37986 nsv442565 9 127984106 127994130 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv6717 9 128004714 128025473 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5182 S 9 0 1 "" NA19129 nsv437651 9 128010040 128024652 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467532 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 nsv8567 9 128010626 128019388 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20038,nssv20623 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA19144 esv26729 9 128010893 128018291 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21019 S 451 0 6 "" NA18858,NA18861,NA18916,NA19099,NA19114,NA19129 nsv499610 9 128010917 128018276 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586122 S 9 0 1 "" nsv515125 9 128011160 128016520 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628034 S 1414 0 1 "" nsv515564 9 128011921 128015132 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663916,nssv681181,nssv687310,nssv688214,nssv678744 M 2026 0 5 "" esv2421496 9 128011921 128016523 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5083725,essv5059381,essv5088204,essv5025845,essv5067186,essv5004836,essv5099763,essv5052634,essv5044231,essv5100312,essv5090185,essv5051326,essv5030113,essv5054586,essv5063410,essv5072523,essv5101498,essv5057851,essv5099741,essv5097175,essv5068880,essv5064782,essv5027565,essv5068872,essv5116457,essv5129407,essv5096871,essv5078084,essv5019036,essv5022340,essv5024957,essv5072585,essv5065947,essv5146398,essv5119785,essv5093458,essv5089291,essv5112166,essv5147711,essv5121719,essv5081483,essv5003127,essv5037520,essv5050947,essv5160175,essv5087642,essv5020721,essv5161140,essv5135777,essv5004655,essv5120933,essv5160891,essv5138944,essv5108691,essv5031035,essv5114499,essv5103665,essv5117229,essv5021799,essv5039626,essv5015549,essv5026490,essv5019904,essv5056482,essv5055601,essv5139019,essv5006874,essv5017527,essv5028606,essv5069815,essv5058970 M 1184 0 71 "" NA18487,NA18503,NA18504,NA18852,NA18854,NA18857,NA18858,NA18861,NA18863,NA18868,NA18869,NA18916,NA18924,NA18925,NA19093,NA19094,NA19095,NA19096,NA19097,NA19099,NA19101,NA19114,NA19115,NA19127,NA19129,NA19144,NA19150,NA19151,NA19171,NA19184,NA19186,NA19201,NA19226,NA19235,NA19236,NA19237,NA19309,NA19310,NA19321,NA19324,NA19334,NA19385,NA19430,NA19434,NA19438,NA19625,NA19651,NA19704,NA19711,NA20297,NA21316,NA21352,NA21353,NA21357,NA21381,NA21414,NA21434,NA21440,NA21509,NA21510,NA21519,NA21523,NA21525,NA21583,NA21597,NA21619,NA21635,NA21678,NA21719,NA21722,NA21733 nsv442566 9 128015136 128016523 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8568 9 128019388 128036911 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20592,nssv23056 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 esv269450 9 128019952 128020093 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510251,essv2500833,essv2511040,essv2496629,essv2495466,essv2511467,essv2511218,essv2495262,essv2504412,essv2507969,essv2502281,essv2500184,essv2508056,essv2505501,essv2512219,essv2502872,essv2513161,essv2510297,essv2495889,essv2508345,essv2502574,essv2507762,essv2493451,essv2493359,essv2505006,essv2508897,essv2500314,essv2502834,essv2496829,essv2510765,essv2494307,essv2502956,essv2509889,essv2494684,essv2506213,essv2498369,essv2508781,essv2503352,essv2497280,essv2494597,essv2497232,essv2497762,essv2499963,essv2508266,essv2499903,essv2504558,essv2507801,essv2506315,essv2511264,essv2494430,essv2500160,essv2512716,essv2508161,essv2508662,essv2510020,essv2496086,essv2499281,essv2501576,essv2512838,essv2507497,essv2494080,essv2513425,essv2511697,essv2504934,essv2511099,essv2497958,essv2503539,essv2502441,essv2512328,essv2505488,essv2509383,essv2500486,essv2497448,essv2503743,essv2496034,essv2495167,essv2502705,essv2500766,essv2512767,essv2506954,essv2509514,essv2510473,essv2497023,essv2501742,essv2498018,essv2503580,essv2495832,essv2495067,essv2511491,essv2504388 M 157 90 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07346,NA07347,NA10851,NA11830,NA11831,NA11894,NA11919,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12045,NA12154,NA12155,NA12156,NA12249,NA12414,NA12489,NA12749,NA12750,NA12751,NA12763,NA12776,NA12828,NA12878,NA12891,NA12892,NA18498,NA18501,NA18502,NA18507,NA18508,NA18519,NA18523,NA18526,NA18532,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18570,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18608,NA18609,NA18638,NA18871,NA18907,NA18940,NA18942,NA18944,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18973,NA18980,NA19102,NA19129,NA19172,NA19190,NA19239,NA19240 esv272295 9 128019954 128020090 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580217,essv2580290,essv2579992,essv2579374,essv2579439 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19239,NA19240 esv1008969 9 128019991 128019996 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569831 S 3 1 0 "" HuRef nsv526891 9 128026900 128027655 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703249 S 2026 0 1 "" nsv525607 9 128088388 128093352 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701752 S 2026 1 0 "" esv271537 9 128110035 128114723 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515678 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12815 esv27320 9 128178782 128180498 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12600 S 451 0 1 FAM125B NA19190 nsv528672 9 128246971 128267013 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705310 S 2026 1 0 FAM125B esv26981 9 128249744 128250520 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13522 S 451 0 1 FAM125B NA18858 nsv509322 9 128258514 128338578 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619561 S 4 1 0 FAM125B NA10860 dgv8282n71 9 128277752 128325906 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893846,nsv893847,nsv893848 M 6533 0 3 FAM125B IS32841,IS39233,MS16153 nsv893849 9 128285998 128781862 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587119 S 6533 1 0 FAM125B,LMX1B,RALGPS1,ZBTB34,ZBTB43 IS37986 esv2628133 9 128286367 128287969 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304740 S 1 0 1 FAM125B NA18507 esv24101 9 128286610 128288987 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20046,esv14138 M 451 1 3 FAM125B NA12239,NA12828,NA15510,NA19240 esv1001649 9 128286613 128287063 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569762 S 3 0 1 FAM125B HuRef esv1602146 9 128286627 128287078 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282361 S 2 0 1 FAM125B HuRef nsv893850 9 128295451 128362922 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597294 S 6533 0 1 FAM125B IS40799 nsv516074 9 128298658 128315873 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688680,nssv661528,nssv687039,nssv685784,nssv679514,nssv684608,nssv669989,nssv679721,nssv677486,nssv693886,nssv674212,nssv661094,nssv660222,nssv669616,nssv666270,nssv686460,nssv675713,nssv670020,nssv684379,nssv671536,nssv672606,nssv671215,nssv659446,nssv668694,nssv681989,nssv680180,nssv652301,nssv692020,nssv674762,nssv689908,nssv665852,nssv664840,nssv690276,nssv693453,nssv678179,nssv662913,nssv692697,nssv682505,nssv657674,nssv663749,nssv683251,nssv689691,nssv663690,nssv679915,nssv688353,nssv654879,nssv654977,nssv685219,nssv683359,nssv658608,nssv669633,nssv662571,nssv691320,nssv674356,nssv675327,nssv685326,nssv693589,nssv691892,nssv667812,nssv672650,nssv656375,nssv673612,nssv673729,nssv655375,nssv690143,nssv690298,nssv687949,nssv656024,nssv665192,nssv652475,nssv660464,nssv651838,nssv657519,nssv670624,nssv693305,nssv653738,nssv658423,nssv674187,nssv664622,nssv657267,nssv682719,nssv684290,nssv692862,nssv672023,nssv680849,nssv670670,nssv677933,nssv682308,nssv660878,nssv668323,nssv677781,nssv689108,nssv688804,nssv683205,nssv688566,nssv673039,nssv651899,nssv692438,nssv660446,nssv693344,nssv652950,nssv691344 M 2026 0 102 FAM125B nsv466563 9 128298658 128321469 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542082 S 1557 0 1 FAM125B NINDS_49 nsv521117 9 128298658 128324110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697796 S 2026 0 1 FAM125B nsv893851 9 128300078 128334292 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549763,nssv1584809 M 6533 0 2 FAM125B IS37172,MS18276 nsv893852 9 128301150 128324110 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510782 S 6533 0 1 FAM125B SP54988 nsv825080 9 128394715 128490324 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1436834 S 31 1 0 LMX1B NA18542 nsv831723 9 128395518 128572086 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448002,nssv1448001,nssv1448003,nssv1448004,nssv1448005,nssv1448007,nssv1448008,nssv1448010,nssv1448009 M 95 2 7 LMX1B dgv1234n67 9 128411337 128418687 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825081,nsv825082 M 31 2 0 LMX1B NA18526,NA18547 nsv517494 9 128413056 128417056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688475,nssv675616,nssv656793,nssv652188,nssv671385 M 2026 0 5 LMX1B nsv528719 9 128413056 128446810 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705369 S 2026 0 1 LMX1B nsv6718 9 128446642 128491735 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8668 S 9 0 1 LMX1B NA12156 dgv8283n71 9 128449019 128513397 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893853,nsv893854 M 6533 0 2 LMX1B IS33684,MS18276 dgv8284n71 9 128458846 128542783 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893855,nsv893856 M 6533 0 2 LMX1B IS37646,IS39233 nsv466568 9 128462604 128502416 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542083 S 1557 0 1 LMX1B 1780854418_A dgv8285n71 9 128468498 128526803 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893858,nsv893857 M 6533 0 2 LMX1B IS38176,MS16153 nsv825083 9 128491580 128500823 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422819 S 31 1 0 LMX1B NA18547 esv260028 9 128503298 128503781 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394713,essv2395016,essv2394497 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18519,NA19257 nsv831724 9 128518738 128682074 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448014,nssv1448011,nssv1448013,nssv1448012,nssv1448015 M 95 5 0 ZBTB34,ZBTB43 esv25171 9 128527992 128530682 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15149 S 451 0 1 "" NA18907 esv1009588 9 128558657 128563020 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563635 S 3 0 1 "" HuRef nsv8570 9 128558819 128563405 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20622,nssv23114 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA19221 esv22109 9 128559045 128562860 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18825,esv10509,esv17809 M 451 37 0 "" NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv825084 9 128559045 128563346 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434385,nssv1433813,nssv1426864,nssv1439824,nssv1429980,nssv1441227,nssv1438299,nssv1423586,nssv1422941,nssv1431477,nssv1425948,nssv1429233,nssv1435253,nssv1436009,nssv1421888 M 31 0 15 "" AK12,AK14,AK18,AK4,AK6,NA18526,NA18537,NA18547,NA18566,NA18592,NA18942,NA18951,NA18969,NA18997,NA18999 nsv821011 9 128559099 128563346 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420823 S 1 0 1 "" NA10851 nsv825085 9 128560526 128563046 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437601,nssv1427929,nssv1424376,nssv1440498,nssv1428286 M 31 4 1 "" NA18564,NA18582,NA18947,NA18949,NA18968 esv2421428 9 128560616 128561879 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5052718,essv5030426,essv5026038,essv5028882,essv5117502,essv5146508,essv5045438,essv5038414,essv5106061,essv5008956,essv5055464,essv5077347,essv5031782,essv5154292,essv5149847,essv5080034,essv5005146,essv5036501,essv5111375,essv5089613,essv5030064,essv5024410,essv5026996,essv5009453,essv5072835,essv5095004,essv5018018,essv5116135,essv5011558,essv5044967,essv5094179,essv5048345,essv5026339,essv5150494,essv5146726,essv5006474,essv5096472,essv5099334,essv5015727,essv5158518,essv5118160,essv5006177,essv5054132,essv5008893,essv5079356,essv5153698,essv5029410,essv5091592,essv5129254,essv5081690,essv5040019,essv5144278,essv5012696,essv5014614,essv5029102,essv5079017,essv5081915,essv5088808,essv5076739,essv5090944,essv5082336,essv5119407,essv5047095,essv5013890,essv5088934,essv5128737,essv5015216,essv5131202,essv5138214,essv5026046,essv5007214,essv5131997,essv5102444,essv5044067,essv5062507,essv5123795,essv5070564,essv5133072,essv5044623,essv5071605,essv5096930,essv5087648,essv5150039,essv5060566,essv5128959,essv5110356,essv5003015,essv5114035,essv5137815,essv5087288,essv5102369,essv5106443,essv5150134,essv5130103,essv5141301,essv5108007,essv5008100,essv5047814,essv5009815,essv5009329,essv5151363,essv5008526,essv5119560,essv5107661,essv5049053,essv5081651,essv5098968,essv5020350,essv5051560,essv5116668,essv5075781,essv5084617,essv5148168,essv5009083,essv5155889,essv5020336,essv5143590,essv5040824,essv5003177,essv5050285,essv5105054,essv5045562,essv5056406,essv5073790,essv5026333,essv5056074,essv5127562,essv5048542,essv5140779,essv5005873,essv5050974,essv5123780,essv5125566,essv5015844,essv5082236,essv5085944,essv5141073,essv5036006,essv5012031,essv5011689,essv5025032,essv5156464,essv5119530,essv5079156,essv5117411,essv5118885,essv5025570,essv5025039,essv5100287,essv5124790,essv5003605,essv5048096,essv5132883,essv5074796,essv5057855,essv5045546,essv5127147,essv5068891,essv5065128,essv5058464,essv5004489,essv5133886,essv5125370,essv5098764,essv5117329,essv5139162,essv5071791,essv5027108,essv5134880,essv5110191,essv5079276,essv5117271,essv5102023,essv5055145,essv5112172,essv5073294,essv5038306,essv5003048,essv5159576,essv5096375,essv5069840,essv5111866,essv5011676,essv5039897,essv5003978,essv5103730,essv5003372,essv5152160,essv5046249,essv5065284,essv5087001,essv5086271,essv5021945,essv5092309,essv5088993,essv5115815,essv5136982,essv5072555,essv5125934,essv5045069,essv5126678,essv5023743,essv5138495,essv5048765,essv5146138,essv5090707,essv5094196,essv5089556,essv5136560,essv5073139,essv5023999,essv5079897,essv5042098,essv5015863,essv5123676,essv5038555,essv5122204,essv5069527,essv5013654,essv5094573,essv5057519,essv5037654,essv5040392,essv5011394,essv5130988,essv5127321,essv5040511,essv5049854,essv5112180,essv5071457,essv5033427,essv5082512,essv5042862,essv5098107,essv5029450,essv5019136,essv5017484,essv5107302,essv5005582,essv5039941,essv5117477,essv5141547,essv5106597 M 1184 0 243 "" NA06986,NA06995,NA07037,NA07345,NA07346,NA10845,NA10861,NA10865,NA11843,NA11891,NA11893,NA11918,NA11930,NA11992,NA11994,NA12003,NA12056,NA12057,NA12155,NA12249,NA12335,NA12341,NA12386,NA12399,NA12400,NA12489,NA12708,NA12716,NA12718,NA12748,NA12753,NA12762,NA12777,NA12830,NA12843,NA12890,NA17965,NA17966,NA17970,NA17974,NA17977,NA17979,NA17987,NA17988,NA17995,NA17996,NA17999,NA18101,NA18108,NA18118,NA18129,NA18134,NA18138,NA18144,NA18149,NA18150,NA18151,NA18155,NA18156,NA18159,NA18162,NA18532,NA18534,NA18536,NA18559,NA18561,NA18572,NA18573,NA18577,NA18582,NA18592,NA18596,NA18597,NA18608,NA18610,NA18615,NA18616,NA18619,NA18623,NA18626,NA18630,NA18633,NA18634,NA18638,NA18647,NA18674,NA18689,NA18694,NA18696,NA18702,NA18747,NA18939,NA18942,NA18944,NA18945,NA18951,NA18952,NA18953,NA18954,NA18955,NA18957,NA18961,NA18962,NA18963,NA18969,NA18970,NA18975,NA18976,NA18977,NA18979,NA18987,NA18995,NA18998,NA18999,NA19000,NA19010,NA19054,NA19055,NA19057,NA19058,NA19059,NA19062,NA19063,NA19064,NA19066,NA19075,NA19077,NA19078,NA19083,NA19085,NA19087,NA19127,NA19307,NA19316,NA19658,NA19664,NA19669,NA19671,NA19675,NA19676,NA19677,NA19678,NA19679,NA19680,NA19682,NA19704,NA19705,NA19716,NA19718,NA19723,NA19724,NA19725,NA19747,NA19749,NA19751,NA19756,NA19762,NA19771,NA19773,NA19775,NA19777,NA19788,NA19790,NA19795,NA19796,NA20300,NA20336,NA20342,NA20363,NA20364,NA20529,NA20538,NA20582,NA20586,NA20755,NA20759,NA20765,NA20766,NA20785,NA20786,NA20795,NA20799,NA20800,NA20801,NA20804,NA20806,NA20808,NA20809,NA20815,NA20828,NA20849,NA20850,NA20858,NA20859,NA20862,NA20866,NA20869,NA20872,NA20873,NA20874,NA20876,NA20877,NA20887,NA20888,NA20889,NA20894,NA20896,NA20897,NA20902,NA20904,NA20906,NA20910,NA21086,NA21088,NA21091,NA21094,NA21099,NA21100,NA21103,NA21106,NA21108,NA21115,NA21117,NA21118,NA21123,NA21125,NA21137,NA21143,NA21144,NA21303,NA21370,NA21383,NA21418,NA21448,NA21491,NA21494,NA21513,NA21514,NA21522,NA21528,NA21573,NA21717,NA21825 nsv438113 9 128560616 128562129 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470115,nssv470116,nssv470120,nssv470114,nssv470118,nssv470117 M 269 0 6 Samples from several populations that are part of the HapMap project. "" NA18532,NA18582,NA18952,NA18970,NA18995,NA18998 esv270343 9 128610301 128610767 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494615,essv2497401,essv2500762 M 157 3 0 Samples from several populations that are part of the HapMap project. ZBTB43 NA18550,NA18959,NA18973 esv259485 9 128616263 128616520 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394155,essv2393642,essv2394026,essv2394383 M 6 0 0 Samples from several populations that are part of the HapMap project. ZBTB43 NA12878,NA19238,NA19239,NA19240 esv1064562 9 128616427 128616427 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281907 S 2 1 0 ZBTB43 HuRef esv273370 9 128634401 128634486 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581049 S 7 1 0 Samples from several populations that are part of the HapMap project. ZBTB43 NA19240 nsv831726 9 128640675 128869371 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448021,nssv1448019,nssv1448016,nssv1448020,nssv1448018,nssv1448023,nssv1448024,nssv1448025,nssv1448022,nssv1448027,nssv1448026 M 95 10 1 RALGPS1,ZBTB34 esv6599 9 128643405 128643995 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29040 S 1 0 0 "" SJK nsv6719 9 128659267 128693405 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8669 S 9 1 0 ZBTB34 NA12156 nsv825086 9 128664708 128726192 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439012 S 31 1 0 RALGPS1,ZBTB34 NA18973 esv989100 9 128677837 128682887 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563957 S 3 1 0 ZBTB34 HuRef esv2465457 9 128677964 128678608 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295245 S 1 1 0 ZBTB34 NA18507 nsv6721 9 128779082 128814003 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv837 S 9 1 0 RALGPS1 NA19240 nsv517522 9 128964473 129015426 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676706,nssv688354,nssv656905,nssv652268,nssv687646,nssv693652,nssv691532 M 2026 0 7 RALGPS1 nsv525053 9 129053122 129074036 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701101 S 2026 0 1 GARNL3 nsv516966 9 129062361 129079227 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653844,nssv664752,nssv662788,nssv675043,nssv687469,nssv657520,nssv677761,nssv685062,nssv679818,nssv668871,nssv655598,nssv690028,nssv653525,nssv669396,nssv692573,nssv678208,nssv680181 M 2026 4 13 GARNL3 nsv523364 9 129062361 129104793 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699113 S 2026 0 1 GARNL3 nsv521594 9 129065177 129092926 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698211 S 2026 0 1 GARNL3 esv2492436 9 129072475 129075452 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263021 S 1 0 1 GARNL3 NA18507 esv24866 9 129072975 129074561 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15595 S 451 0 5 GARNL3 NA18858,NA18916,NA19147,NA19190,NA19240 nsv527127 9 129073303 129099145 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703512 S 2026 1 0 GARNL3 esv268269 9 129114561 129114871 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494624,essv2507929,essv2500657,essv2512761,essv2497960,essv2496030 M 157 6 0 Samples from several populations that are part of the HapMap project. GARNL3 NA18550,NA18564,NA18571,NA18577,NA18945,NA18961 esv1000498 9 129218440 129226487 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564321 S 3 0 1 ZNF79 HuRef dgv1235n67 9 129221386 129226195 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825089,nsv825090,nsv825093,nsv825088,nsv825091,nsv825092 M 31 0 15 "" AK12,AK14,AK4,NA18526,NA18537,NA18542,NA18552,NA18564,NA18566,NA18570,NA18592,NA18942,NA18949,NA18972,NA18999 esv2980 9 129221401 129225989 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25421 S 1 0 1 Single Asian sample YH "" YH esv25361 9 129221436 129225883 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11367 S 451 0 2 "" NA11995,NA15510 esv1000172 9 129221440 129225897 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575673 S 3 0 1 "" HuRef esv2422071 9 129221707 129225206 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5022582,essv5078065,essv5092707,essv5081384,essv5046511,essv5149366,essv5137837,essv5141512,essv5085777,essv5078667,essv5112091,essv5025559,essv5025762,essv5040293,essv5051917,essv5134197,essv5156855,essv5136864,essv5142492,essv5147880,essv5135726,essv5140483,essv5104794,essv5006509,essv5101689,essv5032917,essv5154532,essv5138644,essv5095671,essv5092787,essv5002475,essv5079215,essv5031677,essv5027869,essv5013722,essv5114050,essv5040562,essv5154741,essv5160206,essv5161077,essv5057069,essv5123423,essv5043359,essv5040308,essv5063057,essv5056581,essv5008224,essv5038441,essv5019127,essv5056762,essv5011951,essv5065248,essv5045297,essv5105174,essv5015424,essv5053280,essv5014481,essv5012543,essv5014650,essv5088382,essv5087203,essv5044322,essv5017746,essv5056939,essv5119313,essv5007771,essv5018692,essv5117132,essv5022317,essv5036799,essv5047611,essv5074343,essv5033049,essv5057097,essv5126729,essv5061618,essv5111114,essv5055399,essv5075995,essv5057887,essv5064166,essv5129624,essv5157705,essv5089448,essv5128562,essv5052487,essv5071498,essv5056051,essv5142707,essv5055439,essv5019729,essv5032697,essv5154077,essv5061777,essv5150921,essv5038836,essv5052389,essv5028274,essv5117419,essv5092928,essv5017002,essv5135198,essv5101018,essv5057405,essv5114193,essv5114538,essv5134165,essv5083456,essv5097674,essv5072470,essv5011679,essv5086237,essv5160272,essv5118225,essv5039402,essv5015952,essv5005341,essv5145472,essv5037048,essv5110155,essv5121614,essv5147708,essv5092784,essv5120416,essv5093533,essv5073291,essv5098803,essv5010809,essv5087974,essv5155572,essv5144262,essv5128473,essv5152144,essv5089454,essv5156375,essv5008997,essv5026128,essv5012409,essv5139579,essv5097065,essv5033705,essv5155126,essv5150531,essv5089573,essv5117182,essv5012138,essv5078864,essv5025877,essv5140231,essv5140512,essv5114703,essv5141011,essv5014727,essv5136968,essv5148554,essv5136465,essv5031248,essv5067107,essv5025652,essv5030601,essv5004207,essv5136997,essv5029445,essv5109061,essv5040493,essv5145714,essv5087928,essv5116133,essv5062908,essv5153016,essv5016423,essv5071783,essv5093626,essv5044229,essv5150478,essv5037911,essv5049433,essv5130328,essv5032194,essv5032062,essv5068336,essv5014129,essv5042306,essv5007093,essv5090638,essv5025566,essv5159944,essv5002637,essv5031483,essv5057029,essv5033453,essv5037134,essv5099682,essv5016930,essv5076367,essv5106137,essv5077167,essv5056515,essv5023415,essv5066225,essv5116003,essv5009165,essv5036955,essv5091492,essv5151584,essv5089809,essv5064934,essv5102538,essv5018852,essv5047162,essv5121253,essv5040453,essv5148394,essv5142772,essv5071083,essv5129535,essv5087901,essv5084152,essv5026489,essv5141588,essv5044280,essv5058046,essv5070679,essv5156294,essv5076528,essv5076278,essv5111708,essv5122660,essv5032628,essv5012778,essv5003347,essv5103496,essv5021824,essv5091201,essv5143497,essv5067156,essv5150958,essv5036835,essv5092181,essv5090105,essv5161183,essv5007189,essv5040079,essv5061835,essv5131169,essv5015036,essv5022902,essv5069209,essv5025404 M 1184 0 249 "" NA06984,NA07435,NA10830,NA10839,NA10854,NA10861,NA10865,NA11839,NA11892,NA11995,NA12005,NA12144,NA12155,NA12283,NA12341,NA12343,NA12344,NA12348,NA12375,NA12546,NA12716,NA12718,NA12752,NA12760,NA12761,NA12818,NA12830,NA12832,NA12843,NA12864,NA12874,NA12890,NA17962,NA17966,NA17968,NA17969,NA17970,NA17974,NA17975,NA17976,NA17979,NA17981,NA17986,NA17990,NA17995,NA17997,NA17998,NA18102,NA18105,NA18109,NA18114,NA18124,NA18125,NA18128,NA18146,NA18147,NA18153,NA18154,NA18157,NA18159,NA18162,NA18524,NA18529,NA18534,NA18542,NA18544,NA18545,NA18546,NA18548,NA18552,NA18557,NA18559,NA18561,NA18564,NA18566,NA18570,NA18572,NA18576,NA18593,NA18595,NA18596,NA18609,NA18611,NA18613,NA18615,NA18616,NA18617,NA18619,NA18620,NA18634,NA18635,NA18642,NA18647,NA18670,NA18685,NA18694,NA18696,NA18704,NA18748,NA18757,NA18942,NA18943,NA18946,NA18948,NA18949,NA18959,NA18960,NA18962,NA18966,NA18972,NA18974,NA18975,NA18976,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18999,NA19000,NA19001,NA19002,NA19005,NA19046,NA19054,NA19056,NA19057,NA19060,NA19072,NA19074,NA19075,NA19076,NA19077,NA19081,NA19084,NA19086,NA19088,NA19160,NA19161,NA19179,NA19180,NA19182,NA19214,NA19347,NA19650,NA19652,NA19653,NA19654,NA19656,NA19657,NA19661,NA19663,NA19665,NA19669,NA19670,NA19671,NA19679,NA19680,NA19681,NA19683,NA19684,NA19704,NA19705,NA19719,NA19720,NA19721,NA19722,NA19723,NA19724,NA19726,NA19727,NA19746,NA19748,NA19755,NA19759,NA19760,NA19761,NA19762,NA19763,NA19771,NA19772,NA19774,NA19775,NA19779,NA19781,NA19782,NA19783,NA19784,NA19788,NA19909,NA19919,NA19921,NA20282,NA20301,NA20302,NA20363,NA20364,NA20508,NA20510,NA20518,NA20519,NA20522,NA20527,NA20535,NA20588,NA20752,NA20753,NA20757,NA20761,NA20769,NA20770,NA20778,NA20792,NA20801,NA20804,NA20808,NA20810,NA20812,NA20846,NA20847,NA20856,NA20862,NA20866,NA20873,NA20875,NA20876,NA20881,NA20883,NA20884,NA20885,NA20887,NA20890,NA20892,NA20902,NA20907,NA20908,NA20909,NA21090,NA21091,NA21109,NA21119,NA21141,NA21142,NA21143,NA21408,NA21441,NA21442,NA21457 nsv893859 9 129255070 130054427 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529824 S 6533 0 1 AK1,C9orf117,C9orf16,CDK9,CIZ1,DNM1,DPM2,ENG,FAM102A,FAM129B,FPGS,LCN2,LOC100289019,LOC389791,LRSAM1,MIR199B,MIR2861,MIR3154,MIR3911,MIR3960,MIR4672,NAIF1,PIP5KL1,PTGES2,PTRH1,SH2D3C,SLC25A25,ST6GALNAC4,ST6GALNAC6,STXBP1,TOR2A,TTC16 MS10123 nsv416166 9 129258279 129260504 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434744 M 24 LRSAM1 nsv893860 9 129264748 129753437 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587120 S 6533 1 0 AK1,C9orf117,CDK9,DPM2,ENG,FAM102A,FAM129B,FPGS,LRSAM1,MIR2861,MIR3911,MIR3960,MIR4672,PIP5KL1,PTRH1,SH2D3C,ST6GALNAC4,ST6GALNAC6,STXBP1,TOR2A,TTC16 IS37986 esv1080051 9 129266483 129266539 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681156 S 2 0 1 LRSAM1 HuRef nsv466569 9 129272244 129314111 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542084 S 1557 0 1 FAM129B,LRSAM1 1798860306_A dgv8286n71 9 129277177 129351225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893863,nsv893861,nsv893862,nsv893864 M 6533 0 4 FAM129B,LRSAM1 IS34304,IS35007,IS40799,MS16153 nsv893865 9 129281987 129795702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530636 S 6533 0 1 AK1,C9orf117,CDK9,DPM2,ENG,FAM102A,FAM129B,FPGS,LRSAM1,MIR2861,MIR3911,MIR3960,MIR4672,PIP5KL1,PTRH1,SH2D3C,ST6GALNAC4,ST6GALNAC6,STXBP1,TOR2A,TTC16 MS10311 nsv466570 9 129306387 129349994 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542085 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FAM129B HGDP00776 nsv893866 9 129416108 129537941 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571717 S 6533 1 0 C9orf117,MIR3911,PTRH1,STXBP1,TOR2A,TTC16 IS32800 nsv893867 9 129490624 129589955 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575069 S 6533 0 1 C9orf117,CDK9,MIR2861,MIR3911,MIR3960,PTRH1,SH2D3C,STXBP1,TOR2A,TTC16 IS33684 nsv893868 9 129490624 129637946 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592222 S 6533 0 1 C9orf117,CDK9,ENG,FPGS,MIR2861,MIR3911,MIR3960,PTRH1,SH2D3C,STXBP1,TOR2A,TTC16 IS39233 dgv8287n71 9 129490624 129795702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893869,nsv893871 M 6533 0 2 AK1,C9orf117,CDK9,DPM2,ENG,FAM102A,FPGS,MIR2861,MIR3911,MIR3960,MIR4672,PIP5KL1,PTRH1,SH2D3C,ST6GALNAC4,ST6GALNAC6,STXBP1,TOR2A,TTC16 IS33504,IS37646 nsv466571 9 129510024 129576538 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542086 S 1557 0 1 C9orf117,PTRH1,SH2D3C,TOR2A,TTC16 NINDS_124 nsv893870 9 129518474 129564196 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510783 S 6533 0 1 SH2D3C,TOR2A,TTC16 SP54988 nsv471323 9 129529564 129647339 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545912 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDK9,ENG,FPGS,MIR2861,MIR3960,SH2D3C,TOR2A,TTC16 HGDP00288 nsv466573 9 129537941 129589955 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542088 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDK9,MIR2861,MIR3960,SH2D3C HGDP00774 nsv825094 9 129544127 129604720 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439013 S 31 1 0 CDK9,MIR2861,MIR3960,SH2D3C NA18973 dgv8288n71 9 129568369 129637946 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893872,nsv893873 M 6533 0 2 CDK9,ENG,FPGS,MIR2861,MIR3960,SH2D3C MS17208,SP54988 nsv466575 9 129572809 129668960 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542089 S 1557 0 1 AK1,CDK9,ENG,FPGS,MIR2861,MIR3960,SH2D3C 1780862075_A nsv893874 9 129578541 129707825 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509934 S 6533 0 1 AK1,CDK9,ENG,FPGS,MIR2861,MIR3960,MIR4672,SH2D3C,ST6GALNAC6 SP54956 nsv825095 9 129589222 129589858 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433815 S 31 1 0 CDK9 NA18526 nsv466576 9 129592736 129658198 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542090 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CDK9,ENG,FPGS HGDP00688 dgv8289n71 9 129621721 129659458 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv893876,nsv893875 M 6533 2 0 ENG SP52077,SP54650 dgv8290n71 9 129637946 129713240 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893877,nsv893878,nsv893884 M 6533 0 3 AK1,ENG,MIR4672,ST6GALNAC4,ST6GALNAC6 IS32841,IS33248,MS13770 dgv8291n71 9 129647339 129753437 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893886,nsv893879,nsv893885 M 6533 0 5 AK1,DPM2,ENG,FAM102A,MIR4672,PIP5KL1,ST6GALNAC4,ST6GALNAC6 IS32322,IS39233,IS41243,IS41634,MS18276 nsv893880 9 129647533 129656442 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516577 S 6533 0 1 ENG SP56862 dgv8292n71 9 129647533 129659458 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893881,nsv893883 M 6533 0 2 ENG SP57292,SP57553 nsv893882 9 129647533 129662767 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508140 S 6533 0 1 ENG SP54672 esv28616 9 129662389 129686315 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20772,esv20057 M 451 1 1 AK1,MIR4672 NA12414,NA19114 dgv497n21 9 129672963 129700631 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv517661,nsv518602 M 2026 0 19 AK1,ST6GALNAC6 dgv8293n71 9 129673254 129795702 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893887,nsv893889,nsv893888 M 6533 0 3 AK1,DPM2,FAM102A,PIP5KL1,ST6GALNAC4,ST6GALNAC6 IS33684,MS16153,MS17208 nsv466577 9 129708778 129756582 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542091 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DPM2,FAM102A,PIP5KL1,ST6GALNAC4 HGDP00668 nsv6722 9 129714257 129748088 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2822 S 9 1 0 DPM2,FAM102A,PIP5KL1,ST6GALNAC4 NA18555 nsv831727 9 129731182 129874782 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448029 S 95 0 1 DPM2,FAM102A,NAIF1,PIP5KL1,SLC25A25 esv5200 9 129763689 129764101 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27641 S 1 0 1 Single Asian sample YH FAM102A YH nsv825096 9 129805635 129807115 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428298 S 31 0 1 "" NA18947 nsv471324 9 129841977 129932766 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545913 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100289019,LOC389791,NAIF1,PTGES2,SLC25A25 HGDP00825 esv26069 9 129852970 129855912 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21268 S 451 0 1 "" NA12239 nsv520376 9 129854187 129854417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697380 S 2026 0 1 "" esv28697 9 129869430 129870040 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18453 S 451 0 1 "" NA12239 nsv518112 9 129890700 129893948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695526 S 2026 0 1 SLC25A25 nsv893890 9 129897227 129950508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530637 S 6533 0 1 LOC100289019,LOC389791,PTGES2,SLC25A25 MS10311 nsv818724 9 129902534 129930881 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417299 S 112 0 1 LOC100289019,LOC389791,PTGES2,SLC25A25 NA18608 nsv893891 9 129904497 130062962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1571890,nssv1549766 M 6533 0 2 C9orf16,CIZ1,DNM1,GOLGA2,LCN2,LOC100289019,LOC389791,MIR199B,MIR3154,PTGES2,SLC25A25 IS32841,MS18276 dgv8294n71 9 129904497 130327173 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893892,nsv893895 M 6533 0 2 C9orf16,CERCAM,CIZ1,COQ4,DNM1,GLE1,GOLGA2,LCN2,LOC100289019,LOC389791,MIR199B,MIR219-2,MIR2964A,MIR3154,ODF2,PTGES2,SLC25A25,SLC27A4,SWI5,TRUB2,URM1 IS37646,IS39233 nsv6723 9 129908747 129943831 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8670 S 9 0 1 LOC100289019,LOC389791,PTGES2,SLC25A25 NA12156 nsv893893 9 129913456 129941980 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509935 S 6533 0 1 LOC100289019,LOC389791,PTGES2 SP54956 nsv893894 9 129913456 129997253 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513990 S 6533 1 0 C9orf16,CIZ1,LCN2,LOC100289019,LOC389791,PTGES2 SP55878 esv2778 9 129920857 129921101 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25219 S 1 0 1 Single Asian sample YH "" YH esv1157058 9 129920912 129921015 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958159 S 2 0 1 "" HuRef esv1009770 9 129933657 129945401 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565783 S 3 0 1 "" HuRef esv1129526 9 129940804 129940884 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3721929 S 2 0 1 "" HuRef nsv512118 9 129940891 129941848 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624676 S 1 0 1 "" 1 esv2901 9 129940899 129941974 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25342 S 1 0 1 Single Asian sample YH "" YH esv1706831 9 129941043 129941519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243467 S 2 0 1 "" HuRef esv8629 9 129941247 129941828 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31070 S 1 0 1 "" SJK esv1725840 9 129941578 129941899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4276479 S 2 0 1 "" HuRef nsv893896 9 130016378 130062962 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573836 S 6533 0 1 DNM1,GOLGA2,MIR199B,MIR3154 IS33504 nsv831728 9 130040094 130218614 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448030 S 95 0 1 COQ4,DNM1,GOLGA2,MIR199B,MIR219-2,MIR2964A,MIR3154,SLC27A4,SWI5,TRUB2,URM1 nsv415888 9 130155844 130155844 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434466 M 24 SLC27A4 dgv8295n71 9 130186230 130225782 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893897,nsv893899 M 6533 0 2 CERCAM,MIR219-2,MIR2964A,URM1 SP54988,SP55021 nsv893898 9 130186230 130270468 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509936 S 6533 0 1 CERCAM,MIR219-2,MIR2964A,ODF2,URM1 SP54956 esv1113963 9 130240012 130240086 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780031 S 2 0 1 "" HuRef esv2150257 9 130266708 130267161 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756239 S 1 0 1 ODF2 NA18507 esv1639805 9 130266778 130266974 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105127 S 2 0 1 ODF2 HuRef esv2618000 9 130309118 130310580 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5166734 S 1 0 1 GLE1 NA18507 nsv526979 9 130371141 130411493 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703351 S 2026 1 0 SPTAN1 esv267771 9 130380038 130380123 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517993 S 157 1 0 Samples from several populations that are part of the HapMap project. SPTAN1 NA12872 nsv416781 9 130408100 130408474 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435359 M 24 SPTAN1 esv1002903 9 130450741 130454363 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565528 S 3 0 1 WDR34 HuRef nsv825097 9 130451039 130504448 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435255 S 31 0 1 SET,WDR34 NA18942 esv2436971 9 130451130 130454230 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224084 S 1 0 1 WDR34 NA18507 esv2591544 9 130451260 130454608 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5312392 S 1 0 1 WDR34 NA18507 nsv512119 9 130451662 130454027 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624678 S 1 0 1 WDR34 1 nsv819298 9 130451751 130456241 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419640 S 2 0 1 WDR34 AK1 esv1498928 9 130451889 130453809 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221979 S 2 0 1 WDR34 HuRef esv26596 9 130452146 130454062 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10529 S 451 1 18 WDR34 NA06985,NA07037,NA07045,NA11894,NA11993,NA11995,NA12004,NA12044,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18508,NA18858,NA19190 nsv820577 9 130452146 130454176 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420825 S 1 0 1 WDR34 NA10851 nsv825099 9 130452146 130454176 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437603,nssv1429982,nssv1430744,nssv1434562,nssv1433014,nssv1438300,nssv1425950,nssv1426865,nssv1431478,nssv1435256,nssv1429235,nssv1428311,nssv1441228,nssv1424377,nssv1425144,nssv1428470,nssv1427657,nssv1421889 M 31 0 18 WDR34 AK10,AK12,AK14,AK16,AK18,AK2,AK4,AK6,AK8,NA18570,NA18582,NA18942,NA18947,NA18949,NA18951,NA18969,NA18972,NA18997 nsv825100 9 130452201 130452756 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439826,nssv1432232 M 31 0 2 WDR34 AK20,NA18537 dgv1236n67 9 130452201 130453150 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825102,nsv825101 M 31 0 4 WDR34 NA18526,NA18542,NA18566,NA18592 nsv825103 9 130452201 130453385 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422766,nssv1439014 M 31 0 2 WDR34 NA18552,NA18973 dgv1237n67 9 130464399 130502653 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825104,nsv825105 M 31 2 0 SET NA18969,NA18973 nsv893900 9 130483688 130506310 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518159,nssv1509937,nssv1511418 M 6533 0 3 PKN3,SET SP54956,SP55021,SP57469 nsv482132 9 130485755 130498496 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558493 S 1 1 0 SET KB1 nsv825106 9 130488464 130494643 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423063 S 31 1 0 SET NA18547 esv27225 9 130490912 130492550 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15432 S 451 0 2 SET NA07037,NA07045 nsv416266 9 130504067 130512596 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434844 M 24 PKN3 nsv893901 9 130529272 130677256 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533641,nssv1552771 M 6533 0 2 C9orf114,CCBL1,ENDOG,TBC1D13,ZER1 MS11249,MS19630 nsv893902 9 130529272 130911748 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587121 S 6533 1 0 C9orf114,CCBL1,CRAT,DOLK,DOLPP1,ENDOG,FAM73B,LRRC8A,NUP188,PHYHD1,SH3GLB2,TBC1D13,ZER1 IS37986 dgv8296n71 9 130567497 130730330 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893905,nsv893903,nsv893906 M 6533 0 3 C9orf114,CCBL1,ENDOG,LRRC8A,PHYHD1,TBC1D13,ZER1 IS34304,IS39233,MS17208 nsv893904 9 130602278 130620565 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511682 S 6533 0 1 TBC1D13 SP55027 nsv521120 9 130605375 130631971 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687845,nssv682564 M 2026 0 2 C9orf114,ENDOG,TBC1D13 dgv8297n71 9 130611848 130876223 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893908,nsv893907 M 6533 0 2 C9orf114,CCBL1,DOLK,ENDOG,FAM73B,LRRC8A,NUP188,PHYHD1,SH3GLB2,TBC1D13 IS33504,IS33601 nsv6724 9 130625306 130660515 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv838 S 9 1 0 C9orf114,CCBL1 NA19240 esv1079251 9 130682731 130683370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047233 S 2 0 1 CCBL1 HuRef nsv511415 9 130739392 130742523 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626024 S 1 0 1 PHYHD1 1 nsv825107 9 130739969 130741741 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424378,nssv1439827,nssv1429983,nssv1430745,nssv1434419,nssv1428323,nssv1438301,nssv1423588,nssv1427940,nssv1426866,nssv1435257,nssv1422767,nssv1431479,nssv1432233,nssv1425145,nssv1429236,nssv1423185,nssv1437604,nssv1433015,nssv1428472,nssv1427658,nssv1421890,nssv1425951 M 31 0 23 PHYHD1 AK10,AK12,AK14,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18537,NA18547,NA18552,NA18582,NA18592,NA18942,NA18947,NA18949,NA18951,NA18968,NA18972,NA18997,NA18999 esv5212 9 130740576 130742119 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27653 S 1 0 1 Single Asian sample YH PHYHD1 YH nsv512120 9 130740618 130742156 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624679 S 1 0 1 PHYHD1 1 esv24543 9 130740850 130741741 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10697 S 451 9 3 PHYHD1 NA06985,NA11995,NA12044,NA12156,NA12287,NA12749,NA12878,NA15510,NA18916,NA19114,NA19147,NA19225 nsv820766 9 130740850 130741741 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420826 S 1 0 1 PHYHD1 NA10851 nsv416190 9 130741773 130745128 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434768 M 24 PHYHD1 nsv831729 9 130775142 130960430 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448031 S 95 0 1 CRAT,DOLPP1,FAM73B,NUP188,PPP2R4,SH3GLB2 nsv509323 9 130793162 130931499 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623565,nssv623566 M 4 1 0 CRAT,DOLPP1,FAM73B,NUP188,PPP2R4,SH3GLB2 NA18994 esv2568076 9 130820246 130823037 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5194728 S 1 0 1 SH3GLB2 NA18507 esv2030052 9 130820336 130822211 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4758102 S 1 0 1 SH3GLB2 NA18507 nsv818725 9 130828990 130978734 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415677 S 112 1 0 CRAT,DOLPP1,FAM73B,IER5L,PPP2R4,SH3GLB2 NA12248 nsv893909 9 130949557 131536460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529825 S 6533 0 1 ASB6,C9orf106,C9orf50,IER5L,LOC100506190,METTL11A,PPP2R4,PRRX2 MS10123 nsv825108 9 130955644 130999971 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439016 S 31 1 0 IER5L NA18973 nsv825110 9 130974784 130983624 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433817 S 31 1 0 IER5L NA18526 nsv825111 9 130975910 130981429 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423308 S 31 1 0 IER5L NA18547 nsv466578 9 130978734 131006760 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542092 S 1557 0 1 IER5L 1780862304_A nsv893910 9 130996655 131125058 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546694 S 6533 0 1 C9orf106 MS17208 esv1150558 9 131041627 131041693 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3808749 S 2 0 1 "" HuRef nsv519061 9 131050527 131050902 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696533 S 2026 0 1 "" nsv511412 9 131064586 131069689 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626020 S 1 0 1 "" 1 esv999844 9 131066425 131068269 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563984 S 3 0 1 "" HuRef nsv512121 9 131066485 131067933 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624680 S 1 0 1 "" 1 nsv416927 9 131066507 131067890 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435505 M 24 "" esv1652176 9 131066521 131067905 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4278780 S 2 0 1 "" HuRef esv7138 9 131066536 131067896 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29579 S 1 0 1 "" SJK esv25847 9 131066551 131067841 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19243 S 451 31 0 "" NA06985,NA07037,NA11993,NA11995,NA12004,NA12044,NA12156,NA12239,NA12414,NA12489,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821561 9 131066551 131067841 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420827 S 1 0 1 "" NA10851 nsv6725 9 131075193 131084027 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1801 S 9 0 1 "" NA18555 nsv893911 9 131088774 131167540 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587122 S 6533 1 0 C9orf106 IS37986 nsv6726 9 131109574 131133702 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv839 S 9 1 0 C9orf106 NA19240 nsv527231 9 131118598 131125114 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703631 S 2026 0 1 C9orf106 nsv893912 9 131130192 131167540 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585894 S 6533 0 1 "" IS37646 nsv831730 9 131137899 131309251 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448032 S 95 0 1 LOC100506190 nsv471325 9 131139212 131186226 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545914 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00556 esv22510 9 131141218 131142763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21407 S 451 0 1 "" NA12414 esv2429314 9 131142182 131142247 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5238573 S 1 0 1 "" NA18507 esv2556841 9 131142216 131142445 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304077 S 1 0 1 "" NA18507 nsv818726 9 131151119 131300171 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415678 S 112 1 0 LOC100506190 NA12248 nsv6727 9 131156125 131158437 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10686 S 9 1 0 "" NA18956 dgv950n27 9 131186226 131207388 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466581,nsv466580,nsv466582 M 1557 0 3 "" NINDS_59,NINDS_60,NINDS_98 nsv509325 9 131192728 131265318 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623568,nssv619562 M 4 2 0 "" NA10860,NA18994 esv27566 9 131197127 131200547 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20541 S 451 2 0 "" NA06985,NA12044 nsv466586 9 131198437 131218034 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542097 S 1557 0 1 "" NINDS_71 esv3965 9 131198614 131198945 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26406 S 1 1 0 Single Asian sample YH "" YH esv2573766 9 131198641 131199452 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5183736 S 1 1 0 "" NA18507 nsv893913 9 131209061 131307946 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587123 S 6533 1 0 LOC100506190 IS37986 nsv893914 9 131210494 131245070 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530638 S 6533 0 1 "" MS10311 nsv819778 9 131224028 131249370 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418701 S 2 0 1 "" AK1 dgv1238n67 9 131226624 131246164 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825113,nsv825112 M 31 0 3 "" NA18537,NA18951,NA18997 nsv825114 9 131233551 131252842 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435258 S 31 0 1 "" NA18942 nsv466587 9 131236352 131286833 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542098 S 1557 0 1 "" NINDS_200 nsv466588 9 131253480 131300171 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542099 S 1557 0 1 LOC100506190 NINDS_111 esv26781 9 131255139 131260060 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16564,esv15544,esv20907 M 451 2 1 "" NA06985,NA12044,NA12414 nsv511429 9 131255259 131256851 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626040 S 1 1 0 "" 1 esv996110 9 131292958 131301286 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564219 S 3 0 1 LOC100506190 HuRef nsv893915 9 131294486 131368620 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530639 S 6533 0 1 LOC100506190 MS10311 esv1600853 9 131316791 131316791 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871402 S 2 1 0 "" HuRef nsv831731 9 131317051 131436746 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448033,nssv1448034 M 95 1 1 ASB6,C9orf50,METTL11A nsv820267 9 131327404 131344640 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418666 S 2 0 1 "" AK1 dgv8298n71 9 131338554 131368620 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893916,nsv893917 M 6533 0 2 "" IS33178,IS37646 nsv516376 9 131343422 131348664 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668983,nssv680592,nssv667873,nssv657604,nssv693272 M 2026 0 5 "" dgv8299n71 9 131344874 131384077 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893918,nsv893920 M 6533 0 2 "" IS41410,SP54988 nsv893919 9 131344874 131541702 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592226 S 6533 0 1 ASB6,C9orf50,METTL11A,PRRX2,PTGES IS39233 nsv893921 9 131354622 131399997 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546695 S 6533 0 1 "" MS17208 nsv893922 9 131354622 131427486 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587124 S 6533 1 0 C9orf50 IS37986 nsv893923 9 131364187 131445713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509938 S 6533 0 1 ASB6,C9orf50,METTL11A SP54956 nsv825115 9 131365972 131367175 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434430,nssv1433818 M 31 0 2 "" NA18526,NA18592 esv1609153 9 131393425 131393759 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939628 S 2 0 1 "" HuRef nsv469901 9 131399997 131483920 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545915 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASB6,C9orf50,METTL11A,PRRX2 HGDP00657 nsv893924 9 131434091 131586137 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546696 S 6533 0 1 ASB6,METTL11A,PRRX2,PTGES MS17208 nsv893925 9 131452527 131624879 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537438 S 6533 1 0 PRRX2,PTGES,TOR1A,TOR1B MS13206 nsv893926 9 131460260 131542251 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587125 S 6533 1 0 PRRX2,PTGES IS37986 nsv466589 9 131489577 131537371 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542100 S 1557 0 1 PRRX2 NINDS_210 nsv893927 9 131513437 131557322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530640 S 6533 0 1 PRRX2,PTGES MS10311 esv2229845 9 131537873 131538267 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4814353 S 1 0 1 "" NA18507 nsv6728 9 131554433 131586335 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5183 S 9 0 1 PTGES NA19129 nsv436625 9 131564643 131570728 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466555 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv515126 9 131566304 131567760 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628035 S 1414 0 1 "" esv23022 9 131566326 131569605 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9881 S 451 0 2 "" NA18505,NA19129 nsv6729 9 131591759 131617016 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8671 S 9 1 0 TOR1A,TOR1B NA12156 dgv2422e1 9 131639789 131662587 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1110,essv21883 M 271 0 0 USP20 NA06991 esv24598 9 131653883 131654469 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13908 S 451 0 2 USP20 NA18858,NA19099 esv1000693 9 131661351 131661354 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584709 S 3 1 0 USP20 HuRef esv1323037 9 131661384 131661384 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3654875 S 2 1 0 USP20 HuRef nsv893928 9 131665723 131746985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573838 S 6533 0 1 FNBP1,USP20 IS33504 nsv8571 9 131665831 131677900 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21231 S 31 1 0 Samples from several populations that are part of the HapMap project. USP20 NA18860 nsv469902 9 131668850 131721440 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545916 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FNBP1,USP20 HGDP00962 nsv517374 9 131669242 131680547 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653886,nssv679484 M 2026 0 2 USP20 nsv893929 9 131680547 131796072 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572042 S 6533 1 0 FNBP1,USP20 IS32843 nsv893930 9 131695685 131822151 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1598415 S 6533 0 1 FNBP1 IS41094 nsv893931 9 131695685 131869175 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1567023,nssv1576007,nssv1570048 M 6533 1 2 FNBP1,GPR107 IS31041,IS31768,IS33857 nsv831732 9 131722748 131906000 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448035 S 95 0 1 FNBP1,GPR107 nsv416070 9 131804138 131806023 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434648 M 24 FNBP1 nsv831733 9 131888199 132078760 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448036 S 95 0 1 GPR107,NCS1 nsv518603 9 131897307 131899709 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696049 S 2026 0 1 GPR107 nsv466590 9 131909165 131984366 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542101 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations GPR107,NCS1 HGDP00189 nsv6730 9 131936104 131970696 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv840 S 9 1 0 GPR107 NA19240 nsv6732 9 131937881 131982143 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1802 S 9 0 1 GPR107,NCS1 NA18555 nsv520802 9 131946307 132028530 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675617,nssv681603,nssv694090,nssv701729 M 2026 1 3 NCS1 nsv893932 9 131946307 132038180 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585896 S 6533 0 1 NCS1 IS37646 nsv893933 9 131951768 132418775 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587126 S 6533 1 0 ASS1,NCS1 IS37986 nsv893934 9 131955108 132018298 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1589748 S 6533 0 1 NCS1 IS38403 nsv893935 9 131955108 132357189 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529826 S 6533 0 1 ASS1,NCS1 MS10123 nsv466592 9 131959051 132008455 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542102 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCS1 HGDP01023 esv2319033 9 131964596 131965172 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4897730 S 1 0 1 "" NA18507 dgv8300n71 9 131970164 132007017 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893936,nsv893937 M 6533 0 2 NCS1 IS39233,MS16153 nsv466593 9 131982864 132007017 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542103 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCS1 HGDP00445 dgv8301n71 9 131982864 132032983 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893939,nsv893938 M 6533 0 3 NCS1 IS30197,IS40799,MS18276 nsv893940 9 132011641 132059019 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584362 S 6533 1 0 NCS1 IS36973 nsv466595 9 132028530 132065770 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542105 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NCS1 HGDP00011 nsv6733 9 132063473 132086743 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3753 S 9 0 1 "" NA12878 dgv1239n67 9 132070514 132072348 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825116,nsv825117 M 31 0 2 "" NA18537,NA18564 esv27899 9 132070528 132074979 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19300 S 451 0 5 "" NA11995,NA12006,NA12287,NA12414,NA12878 nsv515127 9 132070968 132072328 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628037 S 1414 0 1 "" nsv825118 9 132078316 132079039 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421893 S 31 0 1 "" NA18997 nsv466596 9 132085469 132111739 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542106 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00049 dgv8302n71 9 132111739 132294010 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893941,nsv893942 M 6533 0 2 "" IS33684,MS11306 nsv893943 9 132111739 132361322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543550 S 6533 0 1 ASS1 MS16153 nsv893944 9 132216403 132267462 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549768 S 6533 0 1 "" MS18276 nsv818727 9 132216403 132297805 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415679 S 112 1 0 "" NA12248 nsv893945 9 132219132 132288952 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580862 S 6533 0 1 "" IS35484 nsv893946 9 132219132 132361322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573839 S 6533 0 1 ASS1 IS33504 dgv8303n71 9 132237274 132275993 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893948,nsv893949,nsv893947 M 6533 0 3 "" IS33601,IS39233,MS17208 nsv528828 9 132261749 132265400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705502 S 2026 0 1 "" nsv522297 9 132264086 132265400 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695078 S 2026 0 1 "" nsv893950 9 132264627 132274870 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499096 S 6533 0 1 "" SP50159 nsv433505 9 132280322 132288952 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463386 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA18956 nsv893951 9 132297884 132317430 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509330 S 6533 0 1 ASS1 SP54782 dgv8304n71 9 132302936 132333480 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893952,nsv893954 M 6533 0 2 ASS1 IS35007,IS40799 nsv893953 9 132305092 132325236 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510787 S 6533 0 1 ASS1 SP54988 nsv466597 9 132308572 132325236 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542107 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ASS1 HGDP00663 nsv893955 9 132308572 132350713 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530641 S 6533 0 1 ASS1 MS10311 nsv831734 9 132315853 132483767 CNV Gain Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448037 S 95 1 0 ASS1,FUBP3,LOC100272217 nsv893956 9 132317656 132388474 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585897 S 6533 0 1 ASS1 IS37646 dgv8305n71 9 132318790 132351835 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893958,nsv893957 M 6533 0 2 ASS1 IS33684,MS17208 esv1002962 9 132339927 132347778 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564931 S 3 0 1 ASS1 HuRef nsv6734 9 132356494 132379505 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1803 S 9 0 1 ASS1 NA18555 nsv466600 9 132357189 132385430 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542108 S 1557 0 1 ASS1 NINDS_70 nsv825119 9 132367453 132377051 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422769 S 31 1 0 "" NA18552 nsv821411 9 132370594 132377493 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420828 S 1 0 1 "" NA10851 nsv499642 9 132372946 132377244 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586123 S 9 0 1 "" esv29169 9 132373363 132377325 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9971 S 451 23 1 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12287,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18861,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv8831 9 132381665 132390863 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31272 S 1 0 1 "" SJK nsv893959 9 132385430 132441755 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1568396 S 6533 0 1 "" IS31282 nsv518210 9 132412649 132413841 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695633 S 2026 0 1 "" esv27777 9 132413203 132415465 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14079 S 451 0 1 "" NA18907 esv33278 9 132418805 132421354 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93779 S 51 0 1 "" 21972 esv1927731 9 132429935 132430328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4977606 S 1 0 1 "" NA18507 esv2177890 9 132441338 132441761 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4624558 S 1 0 1 "" NA18507 nsv831735 9 132464150 132656789 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448038,nssv1448040 M 95 0 2 ABL1,EXOSC2,FUBP3,PRDM12 esv1002669 9 132465058 132465644 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586328 S 3 1 0 FUBP3 HuRef nsv825121 9 132502275 132503502 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421894 S 31 1 0 FUBP3 NA18997 nsv825122 9 132502364 132563125 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439017 S 31 1 0 EXOSC2,FUBP3,PRDM12 NA18973 nsv825123 9 132524166 132531332 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423430 S 31 1 0 PRDM12 NA18547 nsv825124 9 132545811 132548380 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423552 S 31 1 0 PRDM12 NA18547 esv32595 9 132580357 132584940 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98734 S 51 0 1 ABL1 21606 esv1117111 9 132643058 132643210 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4036230 S 2 0 1 ABL1 HuRef dgv2423e1 9 132727387 133018382 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22140,esv474 M 271 0 0 ABL1,AIF1L,FIBCD1,LAMC3,NUP214,QRFP NA10857 esv24869 9 132742245 132742808 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20689 S 451 11 1 ABL1 NA06985,NA11894,NA11995,NA12004,NA15510,NA18505,NA18508,NA18907,NA19099,NA19114,NA19129,NA19147 nsv820967 9 132742245 132742808 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420829 S 1 0 1 ABL1 NA10851 nsv6735 9 132742596 132787060 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4618 S 9 0 1 ABL1,FIBCD1,QRFP NA19129 nsv893960 9 132743920 132833682 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587127 S 6533 1 0 ABL1,FIBCD1,QRFP IS37986 dgv8306n71 9 132747606 132786515 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893964,nsv893961 M 6533 0 2 ABL1,FIBCD1,QRFP IS33504,IS33665 dgv8307n71 9 132747606 132811868 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893965,nsv893962 M 6533 0 4 ABL1,FIBCD1,QRFP IS33162,IS35484,MS16153,MS18276 nsv893963 9 132747606 132936395 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529827 S 6533 0 1 ABL1,FIBCD1,LAMC3,QRFP MS10123 nsv469903 9 132755477 132773387 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545917 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations FIBCD1,QRFP HGDP00657 nsv893966 9 132758990 132785431 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1558249 S 6533 1 0 FIBCD1,QRFP MS23178 nsv466601 9 132760043 132799596 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542109 S 1557 0 1 FIBCD1 NINDS_271 nsv831737 9 132760311 132993765 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448042,nssv1448041 M 95 0 2 AIF1L,FIBCD1,LAMC3,NUP214 dgv8308n71 9 132765678 132811868 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893967,nsv893968 M 6533 0 2 FIBCD1 IS40799,SP54956 nsv522953 9 132766364 132769269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698621 S 2026 0 1 FIBCD1 nsv526527 9 132768841 132769269 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702839 S 2026 0 1 FIBCD1 nsv825125 9 132774699 132775181 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439019 S 31 1 0 FIBCD1 NA18973 nsv8572 9 132801121 132809494 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21261,nssv19358 M 31 2 0 Samples from several populations that are part of the HapMap project. FIBCD1 NA12155,NA18860 nsv893969 9 132818336 132877722 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549770 S 6533 0 1 LAMC3 MS18276 dgv8309n71 9 132818336 132917699 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893971,nsv893970,nsv893972 M 6533 0 4 LAMC3 IS33504,MS10311,MS16153,MS17208 nsv512993 9 132820261 132820413 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625649 S 1 1 0 "" 1 nsv509326 9 132821745 132829980 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619563 S 4 1 0 "" NA10860 esv22411 9 132837006 132838271 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11872 S 451 0 2 "" NA07037,NA19114 nsv831738 9 132841760 133018382 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448044,nssv1448043 M 95 0 2 AIF1L,LAMC3,NUP214 esv2358362 9 132861574 132861988 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4961742 S 1 0 1 "" NA18507 esv2856 9 132861597 132862034 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25297 S 1 0 1 Single Asian sample YH "" YH esv33889 9 132898827 132905714 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95489 S 51 1 0 LAMC3 21847 nsv415537 9 132912391 132913254 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434115 M 24 LAMC3 nsv893973 9 132917699 132971542 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587128 S 6533 1 0 AIF1L,LAMC3 IS37986 esv33161 9 132921471 132926802 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94688,essv101313,essv94462,essv96909,essv93052,essv97297,essv95887,essv94481,essv93554,essv99668,essv94990,essv97777,essv100413,essv96358 M 51 14 0 LAMC3 21791,21805,21808,21817,21863,21879,21911,21932,22128,22217,22231,22278,22300,22371 nsv893974 9 132948119 133014995 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1536900 S 6533 0 1 AIF1L,LAMC3,NUP214 MS13011 dgv8310n71 9 132975661 133158997 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893976,nsv893975 M 6533 0 3 AIF1L,FAM78A,NUP214,PPAPDC3 IS33747,IS35701,IS41956 nsv831739 9 133010554 133176002 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448045,nssv1448046 M 95 0 2 FAM78A,NUP214,PPAPDC3 esv7289 9 133019076 133019156 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29730 S 1 1 0 NUP214 SJK esv275417 9 133032089 133035355 CNV Gain+Loss Banerjee et al 2011 21479260 SNP_array Affymetrix SNP 6.0 essv2585640,essv2585225 M 1250 1 1 NUP214 dgv8311n71 9 133085836 133199528 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893977,nsv893980,nsv893978,nsv893982,nsv893981 M 6533 0 9 FAM78A,NUP214,PPAPDC3 IS34304,IS35484,IS35675,MS10311,MS10769,MS18276,MS19630,MS19808,MS20359 nsv893979 9 133085836 133223089 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552133 S 6533 0 1 FAM78A,NUP214,PPAPDC3 MS19226 nsv819444 9 133099403 133099761 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418870 S 2 0 1 "" AK1 nsv509327 9 133106589 133314020 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623569,nssv619565,nssv620930,nssv619564 M 4 3 0 FAM78A,PPAPDC3,PRRC2B NA10860,NA15510,NA18994 nsv893983 9 133112309 133185787 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509940 S 6533 0 1 FAM78A,PPAPDC3 SP54956 nsv893984 9 133129279 133223089 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1527302 S 6533 1 0 FAM78A,PPAPDC3 SP58325 dgv8312n71 9 133134618 133166818 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893986,nsv893985 M 6533 0 2 FAM78A,PPAPDC3 SP51109,SP54988 nsv893987 9 133134618 133192072 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538636 S 6533 0 1 FAM78A,PPAPDC3 MS13770 nsv466602 9 133134618 133213012 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542110 S 1557 0 1 FAM78A,PPAPDC3 NINDS_119 nsv893988 9 133134618 133303446 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587129 S 6533 1 0 FAM78A,PPAPDC3,PRRC2B IS37986 nsv825126 9 133140967 133149430 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433820 S 31 1 0 FAM78A NA18526 nsv831740 9 133183102 133382532 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448047 S 95 0 1 POMT1,PRRC2B,SNORD62A,SNORD62B esv33736 9 133202009 133203900 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100745 S 51 1 0 "" 21656 nsv893989 9 133204204 133316771 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1557613 S 6533 0 1 PRRC2B MS22770 esv1760625 9 133224546 133224546 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046131 S 2 1 0 "" HuRef nsv6736 9 133233574 133277735 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1804 S 9 0 1 "" NA18555 esv1363536 9 133235481 133235481 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3982355 S 2 1 0 "" HuRef nsv8573 9 133247548 133257784 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18606,nssv21683,nssv18577 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA10863,NA11830,NA18972 nsv819908 9 133248413 133258366 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418586 S 2 0 1 "" AK1 nsv499462 9 133250323 133255828 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586124 S 9 0 1 "" esv29001 9 133250385 133255622 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14246 S 451 0 4 "" NA11995,NA12004,NA12828,NA15510 dgv1240n67 9 133250465 133255762 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825127,nsv825128,nsv825130,nsv825129 M 31 0 7 "" AK10,AK2,AK20,NA18566,NA18947,NA18968,NA18972 esv2422144 9 133250747 133255525 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5080561,essv5049045,essv5037060,essv5013569,essv5154102,essv5123723,essv5080962,essv5033896,essv5021832,essv5007839,essv5085386,essv5138429,essv5005696,essv5040699,essv5093308,essv5139182,essv5050168,essv5144366,essv5081933,essv5025262,essv5074402,essv5078771,essv5065169,essv5148675,essv5016193,essv5050926,essv5085881,essv5020035,essv5087502,essv5013198,essv5154188,essv5060948,essv5030634,essv5148985,essv5042889,essv5042213,essv5110209,essv5119010,essv5076330,essv5079885,essv5155036,essv5158579,essv5015089,essv5126408,essv5074828,essv5156916,essv5106209,essv5041184,essv5102664,essv5050383,essv5014132,essv5106820,essv5124409,essv5104662,essv5119393,essv5031891,essv5159365,essv5131495,essv5049388,essv5149924,essv5129870,essv5070952,essv5013195,essv5116423,essv5108286,essv5115193,essv5071660,essv5087877,essv5156820,essv5133774,essv5052501,essv5112262,essv5098498,essv5047907,essv5070185,essv5074635,essv5148603,essv5009861,essv5121189,essv5154740,essv5047297,essv5160856,essv5100975,essv5074128,essv5065797,essv5146259,essv5014392,essv5005531,essv5045554,essv5144977 M 1184 0 90 "" NA06994,NA07014,NA07022,NA07051,NA10836,NA10855,NA10856,NA10859,NA10863,NA11829,NA11830,NA11831,NA11839,NA11995,NA12043,NA12275,NA12282,NA12283,NA12386,NA12399,NA12778,NA12830,NA17980,NA18129,NA18135,NA18555,NA18562,NA18566,NA18592,NA18635,NA18645,NA18670,NA18740,NA18940,NA18947,NA18953,NA18956,NA18962,NA18972,NA19002,NA19059,NA19064,NA19067,NA19075,NA19086,NA19189,NA19191,NA19472,NA19652,NA19654,NA19657,NA19659,NA19661,NA19684,NA19686,NA19719,NA19722,NA19723,NA19724,NA19749,NA19751,NA19759,NA19761,NA19762,NA19763,NA19771,NA19772,NA19779,NA19781,NA19782,NA19784,NA19788,NA19790,NA19795,NA20519,NA20540,NA20543,NA20586,NA20760,NA20775,NA20786,NA20805,NA20807,NA20813,NA20816,NA20819,NA20876,NA21300,NA21488,NA21490 nsv442567 9 133250747 133255525 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" dgv1241n67 9 133258174 133286806 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825133,nsv825132 M 31 2 0 "" NA18969,NA18973 esv22783 9 133258892 133260563 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19357 S 451 0 1 "" NA07045 essv2695 9 133260943 133408434 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 NA18967 dgv2424e1 9 133260943 133468771 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv753,essv3262 M 271 0 0 POMT1,PRRC2B,RAPGEF1,SNORD62A,SNORD62B,UCK1 NA18967 nsv818728 9 133262244 133398255 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417706 S 112 1 0 POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 NA18999 nsv6737 9 133278309 133307414 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3754,nssv1806 M 9 2 0 PRRC2B NA12878,NA18555 esv1680577 9 133279632 133279632 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002009 S 2 1 0 "" HuRef esv994695 9 133279632 133280238 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563747 S 3 1 0 "" HuRef esv34928 9 133279729 133430750 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990453,essv6980189,essv6987029 M 771 1 0 POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 NA18967 nsv831741 9 133294572 133428596 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448048 S 95 0 1 POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 nsv517936 9 133332759 133398255 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695348 S 2026 0 1 POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 nsv893990 9 133332759 133400839 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530644 S 6533 0 1 POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 MS10311 nsv893991 9 133332759 133439288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585898 S 6533 0 1 POMT1,PRRC2B,SNORD62A,SNORD62B,UCK1 IS37646 nsv831742 9 133360323 133512538 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448049 S 95 0 1 POMT1,PRRC2B,RAPGEF1,UCK1 nsv438114 9 133372494 133438117 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470121 S 269 0 1 Samples from several populations that are part of the HapMap project. POMT1,UCK1 NA18967 nsv466603 9 133376921 133395419 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542111 S 1557 0 1 POMT1,UCK1 NINDS_173 dgv8313n71 9 133380691 133430738 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893992,nsv893994,nsv893993 M 6533 0 4 POMT1,UCK1 IS33684,IS37172,IS39233,SP54956 esv21820 9 133380845 133381679 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20681 S 451 0 1 POMT1 NA18523 esv1751376 9 133381016 133381016 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992014 S 2 1 0 POMT1 HuRef esv1270653 9 133381460 133381460 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4050309 S 2 1 0 POMT1 HuRef dgv8314n71 9 133388540 133426383 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893997,nsv893995,nsv894000,nsv894001,nsv893998,nsv893996 M 6533 0 12 POMT1,UCK1 IS30369,IS31656,IS32737,IS32918,IS33178,IS33340,IS34005,IS38538,IS39363,IS39417,IS40502,IS40828 dgv8315n71 9 133392159 133435147 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv893999,nsv894002,nsv894004,nsv894003 M 6533 0 6 UCK1 IS32322,IS32841,IS33239,IS33455,IS33665,IS34407 nsv894005 9 133394020 133473626 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573842 S 6533 0 1 RAPGEF1,UCK1 IS33504 nsv8574 9 133394928 133400150 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18849 S 31 1 0 Samples from several populations that are part of the HapMap project. UCK1 NA12740 nsv894006 9 133395419 133505102 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587130 S 6533 1 0 RAPGEF1,UCK1 IS37986 dgv8316n71 9 133400839 133431850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894007,nsv894008 M 6533 0 2 "" MS13095,SP51109 nsv527193 9 133426055 133427549 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703590 S 2026 1 0 "" nsv518160 9 133426101 133427549 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695581 S 2026 0 1 "" dgv8317n71 9 133426383 133463338 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894010,nsv894009 M 6533 0 2 RAPGEF1 MS10311,MS17208 nsv518141 9 133431850 133479584 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695562 S 2026 1 0 RAPGEF1 nsv6738 9 133463039 133495913 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5184 S 9 1 0 RAPGEF1 NA19129 esv271588 9 133560202 133560301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2523640,essv2541085,essv2561001,essv2567937,essv2543498,essv2528094,essv2562362,essv2577155,essv2551423,essv2525206 M 157 10 0 Samples from several populations that are part of the HapMap project. RAPGEF1 NA07357,NA18537,NA18545,NA18562,NA18577,NA18870,NA18907,NA18909,NA18970,NA19257 esv988623 9 133607611 133608381 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565307 S 3 1 0 "" HuRef dgv200e180 9 133607699 133612057 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1002162,esv992362 M 3 1 0 "" HuRef esv23995 9 133607886 133611972 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10279 S 451 1 0 "" NA12004 esv1009778 9 133611212 133614758 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565543 S 3 1 0 "" HuRef nsv416087 9 133612402 133620736 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434665 M 24 "" esv2489965 9 133654036 133654924 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391809 S 1 1 0 "" NA18507 nsv894011 9 133674732 133715383 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592230 S 6533 0 1 "" IS39233 nsv894012 9 133698605 133756901 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546700 S 6533 0 1 MED27 MS17208 nsv523988 9 133707479 133708823 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699844 S 2026 0 1 "" nsv512994 9 133829175 133829684 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625650 S 1 1 0 MED27 1 esv2619384 9 133829285 133829797 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5373480 S 1 1 0 MED27 NA18507 nsv894013 9 133834660 133998795 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587131 S 6533 1 0 MED27 IS37986 esv2481552 9 133903286 133903393 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372205 S 1 0 1 MED27 NA18507 nsv509328 9 133949225 134135935 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620931 S 4 1 0 NTNG2,SETX NA15510 dgv8318n71 9 133985089 134127185 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894014,nsv894015 M 6533 0 2 NTNG2,SETX MS10311,MS16153 nsv6739 9 134000387 134032162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5185 S 9 1 0 NTNG2 NA19129 esv2474938 9 134007438 134008091 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5205114 S 1 1 0 "" NA18507 dgv8319n71 9 134019860 134094607 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894016,nsv894017 M 6533 0 2 NTNG2 IS33504,MS10123 nsv825134 9 134025174 134030689 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423675 S 31 1 0 NTNG2 NA18547 nsv519872 9 134029377 134040544 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697097 S 2026 0 1 NTNG2 nsv416829 9 134039148 134039148 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435407 M 24 NTNG2 esv1610785 9 134039183 134039183 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3790295 S 2 1 0 NTNG2 HuRef nsv416962 9 134039275 134039275 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435540 M 24 NTNG2 nsv894018 9 134045635 134094607 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584363 S 6533 1 0 NTNG2 IS36973 nsv894019 9 134048500 134100277 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585899,nssv1576917,nssv1575074 M 6533 0 3 NTNG2 IS33684,IS34304,IS37646 esv5554 9 134064998 134065084 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27995 S 1 1 0 NTNG2 SJK nsv528270 9 134079075 134081427 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704838 S 2026 0 1 NTNG2 nsv527281 9 134081427 134081700 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703693 S 2026 0 1 NTNG2 nsv528123 9 134081427 134116279 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704667 S 2026 0 1 NTNG2 nsv6740 9 134082654 134093909 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10687 S 9 1 0 NTNG2 NA18956 nsv469904 9 134092075 134116279 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545918 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NTNG2 HGDP00825 nsv433506 9 134128079 134131214 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463387 S 9 0 1 Samples from several populations that are part of the HapMap project. SETX NA18956 esv989756 9 134135053 134135134 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585125 S 3 0 1 SETX HuRef esv1132189 9 134135330 134135412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3926893 S 2 0 1 SETX HuRef nsv894020 9 134135375 134216101 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587132 S 6533 1 0 SETX IS37986 nsv894021 9 134181884 134253394 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584364 S 6533 1 0 SETX,TTF1 IS36973 nsv6741 9 134247547 134292362 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8672 S 9 0 1 C9orf171,TTF1 NA12156 nsv520491 9 134279618 134302051 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697450 S 2026 1 0 C9orf171 esv2070104 9 134286632 134287105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4808549 S 1 0 1 C9orf171 NA18507 esv5190 9 134286759 134286977 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27631 S 1 0 1 Single Asian sample YH C9orf171 YH esv1000676 9 134286825 134286900 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568939 S 3 0 1 C9orf171 HuRef esv1509495 9 134286834 134286910 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3759339 S 2 0 1 C9orf171 HuRef nsv416344 9 134286835 134286910 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434922 M 24 C9orf171 nsv894022 9 134321779 134359832 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1539541 S 6533 0 1 C9orf171 MS14359 nsv6744 9 134335047 134365727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5186 S 9 1 0 C9orf171 NA19129 esv1002280 9 134362572 134371573 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564301 S 3 0 1 C9orf171 HuRef nsv516741 9 134366113 134367630 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654169,nssv653430 M 2026 0 2 C9orf171 nsv894023 9 134376842 134463468 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587133 S 6533 1 0 BARHL1,C9orf171,DDX31 IS37986 esv3371 9 134379058 134379454 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25812 S 1 0 1 Single Asian sample YH C9orf171 YH nsv415812 9 134379112 134379321 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434390 M 24 C9orf171 esv5887 9 134379113 134379318 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28328 S 1 0 1 C9orf171 SJK esv1524647 9 134384766 134384766 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066635 S 2 1 0 C9orf171 HuRef nsv415449 9 134386993 134395362 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434027 M 24 C9orf171 esv1971376 9 134581697 134582171 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4909757 S 1 0 1 "" NA18507 nsv415926 9 134581786 134581920 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434504 M 24 "" esv2960 9 134581819 134582299 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25401 S 1 0 1 Single Asian sample YH "" YH nsv512122 9 134612067 134617319 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624681 S 1 0 1 AK8 1 esv23761 9 134612341 134617403 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10491 S 451 0 3 AK8 NA07037,NA07045,NA12004 nsv517306 9 134614018 134614724 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693046,nssv689808,nssv655874,nssv655253,nssv668148,nssv684980,nssv654273,nssv671183,nssv664494 M 2026 0 9 AK8 nsv894024 9 134614724 134755082 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587134 S 6533 1 0 AK8,C9orf9 IS37986 nsv416899 9 134677739 134677739 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435477 M 24 AK8 esv1077930 9 134677771 134677771 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833485 S 2 1 0 AK8 HuRef esv1992766 9 134678205 134678579 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811027 S 1 0 1 AK8 NA18507 nsv831743 9 134685500 134847756 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448051 S 95 0 1 AK8,C9orf9,GFI1B,TSC1 esv1023755 9 134687333 134687543 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3845306 S 2 0 1 AK8 HuRef nsv510206 9 134697419 134703419 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621366,nssv618321,nssv624085 M 4 0 3 AK8 CHM,NA15510,NA18994 nsv6745 9 134794415 134823661 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9924,nssv6298 M 9 2 0 TSC1 NA12156,NA18507 nsv509329 9 134807030 134821282 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623570,nssv618078 M 4 2 0 TSC1 CHM,NA18994 nsv831744 9 134845258 135039251 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448052,nssv1448053 M 95 1 1 CEL,CELP,GBGT1,GFI1B,GTF3C5,RALGDS nsv894025 9 134845589 134859562 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530647 S 6533 0 1 GFI1B MS10311 nsv894026 9 134852856 134878228 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546701 S 6533 0 1 GFI1B MS17208 nsv894027 9 134854011 134870865 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587135 S 6533 1 0 GFI1B IS37986 nsv526600 9 134867108 134871014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702920 S 2026 0 1 "" nsv526336 9 134869277 134871014 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702627 S 2026 0 1 "" nsv508564 9 134879038 134938284 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620030 S 4 0 1 CEL,GTF3C5 NA15510 nsv524217 9 134895522 134895878 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700105 S 2026 0 1 "" nsv520759 9 134895522 134903304 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697594 S 2026 0 1 GTF3C5 nsv466606 9 134895522 134945493 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542113 S 1557 0 1 CEL,GTF3C5 NINDS_197 nsv894028 9 134904173 134944131 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546702 S 6533 0 1 CEL,GTF3C5 MS17208 nsv6746 9 134909501 134934085 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10688,nssv1807 M 9 2 0 CEL,GTF3C5 NA18555,NA18956 nsv819112 9 134923675 134947428 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418694 S 2 1 0 CEL,GTF3C5 AK1 nsv894029 9 134924252 134947273 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506213 S 6533 1 0 CEL SP54078 nsv894030 9 134924252 135021167 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576918,nssv1538637 M 6533 0 2 CEL,CELP,GBGT1,RALGDS IS34304,MS13770 nsv894031 9 134926499 134956183 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505612,nssv1502404,nssv1519481,nssv1516995,nssv1518245,nssv1516239,nssv1519463,nssv1517929,nssv1509501,nssv1504258,nssv1518652 M 6533 11 0 CEL,CELP SP51161,SP52377,SP53719,SP54803,SP56707,SP57020,SP57408,SP57478,SP57873,SP81039,SP81047 nsv825135 9 134926523 134939076 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428348,nssv1422770 M 31 2 0 CEL NA18552,NA18947 dgv1242n67 9 134926523 134949240 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825140,nsv825137,nsv825136,nsv825139 M 31 4 0 CEL,CELP AK12,AK6,NA18570,NA18973 nsv825138 9 134929176 134946710 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1425954 S 31 0 1 CEL AK4 nsv825141 9 134932758 134939076 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426869 S 31 1 0 CEL AK6 esv33978 9 134932988 134946517 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98746,essv98673,essv96751,essv93670,essv100545,essv100475 M 51 1 3 CEL 21606,21659,21972,22298 nsv442165 9 134933035 134947261 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CEL esv26702 9 134934317 134947466 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10220 S 451 1 0 CEL NA06985 nsv6747 9 134937812 134957856 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10689 S 9 1 0 CELP NA18956 nsv516105 9 134944131 134945493 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687682,nssv698791,nssv666244 M 2026 1 2 "" dgv8320n71 9 134947273 135030650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894033,nsv894032 M 6533 0 2 CELP,GBGT1,RALGDS MS16153,SP54956 nsv466610 9 134966500 135012874 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542114 S 1557 0 1 RALGDS NINDS_66 esv1008406 9 134971046 134971105 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571784 S 3 0 1 RALGDS HuRef esv1320546 9 134971049 134971109 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352414 S 2 0 1 RALGDS HuRef nsv508565 9 134976325 135054979 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620031 S 4 0 1 GBGT1,RALGDS NA15510 nsv894034 9 134997179 135033091 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592231 S 6533 0 1 GBGT1,RALGDS IS39233 dgv8321n71 9 135003463 135106580 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894035,nsv894046 M 6533 2 0 GBGT1,OBP2B,RALGDS IS36973,MS13455 nsv894036 9 135007018 135019086 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500645,nssv1507641 M 6533 0 2 GBGT1,RALGDS SP50159,SP54725 nsv894037 9 135012874 135020128 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508294 S 6533 1 0 GBGT1,RALGDS SP54650 dgv8322n71 9 135012874 135030650 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894039,nsv894038,nsv894045 M 6533 3 0 GBGT1,RALGDS SP54381,SP54620,SP55878 dgv8323n71 9 135012874 135174347 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894047,nsv894048,nsv894052,nsv894042,nsv894040,nsv894041 M 6533 10 0 ABO,GBGT1,OBP2B,RALGDS MS10060,MS10204,MS15036,MS15234,MS18779,MS19397,MS20406,MS24183,MS24329,MS24374 nsv894043 9 135017795 135021167 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506990,nssv1507077 M 6533 2 0 GBGT1 SP54448,SP54468 nsv894044 9 135017795 135024044 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515737 S 6533 1 0 GBGT1 SP56260 dgv951n27 9 135021572 135176984 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466613,nsv466614 M 1557 2 0 ABO,GBGT1,OBP2B HGDP00545,HGDP00547 nsv894049 9 135027080 135029354 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509585 S 6533 0 1 GBGT1 SP54884 dgv8324n71 9 135027080 135030650 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894053,nsv894051,nsv894050 M 6533 0 3 GBGT1 SP50046,SP50159,SP54782 nsv469905 9 135039601 135156167 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545919,nssv545922 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABO,OBP2B HGDP00546,HGDP00547 esv2602267 9 135050178 135051574 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5218676 S 1 0 1 "" NA18507 esv1957861 9 135050337 135051073 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4932510 S 1 0 1 "" NA18507 esv4285 9 135050442 135050899 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26726 S 1 0 1 Single Asian sample YH "" YH esv7315 9 135050512 135050850 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29756 S 1 0 1 "" SJK esv1539175 9 135050549 135050866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182380 S 2 0 1 "" HuRef nsv6748 9 135054652 135086051 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5187 S 9 1 0 OBP2B NA19129 dgv47e194 9 135055360 135055955 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2030390,esv2002866 M 1 0 1 "" NA18507 esv22746 9 135055499 135057196 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16885 S 451 0 1 "" NA18505 nsv415875 9 135055540 135055763 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434453 M 24 "" nsv894054 9 135065500 135106580 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553553 S 6533 1 0 OBP2B MS20152 nsv894055 9 135065500 135126961 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546703 S 6533 0 1 ABO,OBP2B MS17208 nsv894056 9 135086447 135171669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549354 S 6533 1 0 ABO MS18195 nsv894057 9 135111262 135217081 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587136 S 6533 1 0 ABO,MED22,RPL7A,SNORD24,SNORD36A,SNORD36B,SNORD36C,SURF1,SURF2,SURF6 IS37986 nsv894058 9 135113661 135171669 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549772 S 6533 0 1 ABO MS18276 dgv8325n71 9 135113661 135505118 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894059,nsv894078,nsv894077 M 6533 0 3 ABO,ADAMTS13,ADAMTSL2,C9orf7,C9orf96,DBH,FAM163B,MED22,REXO4,RPL7A,SLC2A6,SNORD24,SNORD36A,SNORD36B,SNORD36C,SURF1,SURF2,SURF4,SURF6,TMEM8C IS33504,MS10311,MS17208 nsv894060 9 135117462 135143989 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508643 S 6533 0 1 ABO SP54672 esv21618 9 135118152 135123434 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13293 S 451 0 1 ABO NA18909 nsv442166 9 135118363 135122692 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 ABO nsv894061 9 135119181 135122429 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508027 S 6533 1 0 ABO SP54650 nsv894062 9 135119181 135125186 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515738 S 6533 1 0 ABO SP56260 nsv415441 9 135120494 135120623 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434019 M 24 ABO nsv894063 9 135121009 135122454 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499994 S 6533 1 0 ABO SP50179 nsv516103 9 135121009 135123327 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703923,nssv667456,nssv670428,nssv689077,nssv685831,nssv656531,nssv660810,nssv666231,nssv698808,nssv675786 M 2026 0 10 ABO nsv818729 9 135121009 135123327 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416377 S 112 0 1 ABO NA18855 nsv894064 9 135121143 135171669 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1553554 S 6533 1 0 ABO MS20152 nsv894065 9 135121236 135122429 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510789 S 6533 0 1 ABO SP54988 nsv894066 9 135121344 135132024 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519125 S 6533 0 1 ABO SP80957 dgv8326n71 9 135127946 135137523 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894071,nsv894072,nsv894067,nsv894068,nsv894069 M 6533 0 5 ABO SP50754,SP51109,SP51450,SP54381,SP55847 nsv894070 9 135130283 135136981 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513955,nssv1519135 M 6533 1 1 ABO SP55878,SP80957 dgv8327n71 9 135136981 135143989 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894073,nsv894074,nsv894075 M 6533 0 3 ABO SP54593,SP54956,SP54988 nsv415788 9 135150129 135150129 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434366 M 24 "" nsv519420 9 135156167 135164872 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696844 S 2026 0 1 "" nsv894076 9 135156167 135249630 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1572787 S 6533 0 1 C9orf96,MED22,RPL7A,SNORD24,SNORD36A,SNORD36B,SNORD36C,SURF1,SURF2,SURF4,SURF6 IS33178 esv27640 9 135161091 135165499 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12405 S 451 0 1 "" NA12287 esv989763 9 135161599 135178797 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565372 S 3 1 0 "" HuRef nsv6749 9 135163448 135186700 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1808,nssv11206,nssv9926,nssv5189,nssv10690,nssv3755,nssv9475,nssv841,nssv6299 M 9 9 0 "" NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv1335247 9 135165528 135165528 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4037561 S 2 1 0 "" HuRef nsv48 9 135171263 135186700 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv48 S 1 1 0 "" NA15510 esv2422181 9 135172346 135172606 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5132357,essv5126726,essv5123129,essv5031744,essv5071575,essv5140822,essv5114762,essv5066699,essv5135439,essv5082480,essv5091150,essv5058777,essv5108882,essv5025408,essv5054795,essv5073564,essv5140449,essv5003989,essv5150326,essv5085788,essv5037068,essv5117582,essv5065237,essv5033514,essv5134751,essv5070227,essv5002642,essv5009452,essv5158048,essv5098031,essv5083116,essv5036888,essv5094446,essv5030091,essv5069714,essv5147634,essv5136804,essv5113917,essv5097957,essv5093939,essv5146453,essv5138792,essv5103845,essv5138622,essv5030847,essv5082037,essv5061334,essv5003955,essv5111862,essv5145988,essv5021807,essv5061220,essv5066757,essv5033497,essv5047025,essv5081001,essv5025969,essv5105768,essv5081403,essv5066734,essv5005208,essv5051867,essv5063052,essv5083810,essv5150321,essv5151917,essv5103080,essv5036938,essv5004806,essv5091322,essv5080702,essv5042489,essv5018451,essv5019968,essv5010655,essv5135388,essv5041837,essv5117113,essv5158672,essv5154158,essv5120310,essv5002456,essv5066271,essv5089283,essv5014297,essv5116016,essv5159189,essv5009710,essv5044233,essv5092214,essv5006216,essv5085535,essv5017958,essv5052117,essv5046874,essv5150284,essv5030078,essv5051489,essv5009081,essv5058185,essv5047593,essv5045637,essv5118008,essv5064496,essv5076909,essv5105222,essv5126051,essv5011336,essv5014509,essv5148712,essv5081946,essv5125155,essv5075959,essv5079396,essv5050108,essv5080899,essv5100187,essv5100405,essv5100771,essv5089146,essv5117980,essv5081574,essv5113298,essv5033842,essv5094016,essv5005219,essv5061193,essv5092979,essv5087332,essv5106716,essv5079217,essv5061986,essv5125107,essv5059395,essv5127254,essv5075629,essv5098430,essv5115580,essv5099701,essv5104620,essv5011367,essv5079190,essv5038148,essv5101587,essv5021013,essv5037821,essv5016386,essv5121459,essv5074568,essv5152191,essv5089812,essv5111085,essv5087161,essv5115442,essv5146675,essv5049563,essv5061652,essv5110286,essv5112292,essv5095208,essv5044415,essv5042175,essv5113162,essv5158434,essv5032371,essv5152933,essv5019154,essv5056309,essv5077639,essv5106523,essv5056661,essv5042794,essv5137588,essv5116966,essv5112843,essv5141858,essv5118158,essv5038411,essv5088397,essv5081862,essv5125430,essv5044953,essv5009564,essv5107605,essv5060407,essv5061125,essv5130700,essv5148684,essv5144767,essv5077301,essv5102666,essv5074577,essv5076268,essv5067488,essv5114779,essv5115636,essv5144973,essv5082993,essv5098358,essv5134532,essv5109442,essv5115138,essv5016011,essv5099295,essv5038197,essv5068349,essv5098175,essv5007714,essv5125012,essv5029810,essv5058906,essv5017142,essv5068837,essv5074811,essv5083227,essv5111831,essv5066517,essv5143806,essv5062782,essv5155286,essv5012070,essv5066556,essv5022120,essv5044557,essv5004826,essv5143654,essv5035442,essv5037169,essv5067634,essv5072496,essv5046701,essv5018332,essv5077901,essv5063834,essv5074436,essv5067046,essv5142645,essv5002870,essv5132458,essv5048461,essv5021700,essv5080241,essv5104563,essv5029812,essv5069041,essv5111393,essv5054897,essv5029370,essv5105218,essv5056241,essv5052931,essv5114166,essv5011208,essv5094878,essv5124960,essv5028321,essv5127660,essv5160304,essv5159864,essv5101021,essv5058124,essv5131208,essv5124571,essv5089166,essv5003006,essv5045119,essv5145426,essv5004244,essv5131329,essv5043026,essv5118133,essv5125559,essv5073767,essv5053778,essv5077046,essv5144386,essv5041273,essv5092300,essv5086791,essv5130666,essv5127171,essv5029210,essv5106252,essv5116496,essv5031548,essv5038090,essv5019715,essv5151702,essv5146999,essv5111128,essv5044747,essv5107015,essv5107671,essv5062598,essv5096314,essv5048599,essv5146100,essv5083250,essv5099587,essv5078406,essv5057357,essv5021363,essv5040581,essv5128501,essv5103418,essv5116984,essv5129307,essv5076102,essv5123304,essv5158871,essv5048865,essv5016009,essv5042937,essv5055099,essv5128256,essv5090317,essv5073181,essv5090675,essv5119321,essv5111410,essv5123567,essv5070300,essv5120377,essv5007342,essv5107777,essv5021498,essv5098708,essv5044384,essv5003583,essv5151617,essv5006144,essv5046522,essv5017546,essv5159644,essv5051894,essv5150986,essv5024606,essv5108185,essv5085177,essv5055819,essv5088649,essv5015377,essv5038111,essv5026394,essv5107448,essv5078769,essv5028667,essv5024362,essv5044499,essv5009753,essv5143919,essv5099910,essv5052042,essv5085896,essv5005027,essv5061171,essv5030526,essv5035803,essv5072337,essv5025427,essv5136367,essv5105138,essv5016536,essv5019013,essv5133899,essv5018318,essv5011612,essv5017020,essv5106510,essv5076557,essv5132562,essv5028315,essv5032348,essv5154455,essv5028734,essv5009810,essv5026180,essv5121488,essv5121659,essv5010968,essv5056139,essv5109592,essv5008833,essv5028651,essv5149958,essv5118525,essv5036466,essv5054027,essv5041055,essv5141529,essv5072677,essv5028531,essv5044786,essv5105599,essv5106858,essv5020554,essv5097263,essv5154630,essv5078343,essv5160690,essv5019325,essv5081432,essv5099732,essv5074361,essv5099638,essv5043207,essv5139041,essv5081676,essv5059546,essv5088606,essv5043325,essv5060531,essv5019918,essv5105785,essv5121820,essv5038102,essv5095155,essv5102704,essv5014768,essv5092577,essv5137115,essv5026141,essv5034690,essv5027041,essv5124327,essv5135755,essv5109840,essv5014131,essv5032004,essv5088219,essv5006554,essv5143886,essv5057732,essv5004875,essv5062361,essv5068870,essv5158108,essv5090557,essv5072235,essv5084794,essv5125308,essv5059020,essv5116005,essv5094047,essv5056971,essv5031572,essv5076804,essv5035615,essv5076122,essv5045755,essv5047915,essv5150425,essv5043931,essv5049900,essv5098000,essv5061909,essv5127914,essv5131825,essv5149824,essv5073376,essv5079552,essv5061328,essv5141889,essv5138027,essv5033218,essv5150269,essv5026431,essv5059765,essv5123047,essv5085751,essv5070145,essv5095753,essv5097593,essv5014784,essv5072303,essv5126599,essv5016804,essv5113134,essv5091799,essv5009119,essv5045690,essv5094805,essv5027285,essv5160722,essv5091203,essv5072858,essv5136622,essv5083055,essv5029008,essv5056673,essv5106077,essv5035110,essv5125437,essv5069923,essv5042892,essv5013792,essv5026173,essv5025879,essv5136250,essv5112089,essv5140141,essv5082655,essv5076615,essv5080548,essv5068430,essv5079982,essv5010728,essv5154653,essv5136150,essv5039913,essv5008147,essv5135790,essv5077128,essv5039623,essv5140204,essv5008411,essv5112189,essv5070766,essv5112833,essv5007974,essv5060442,essv5122674,essv5095128,essv5024706,essv5043088,essv5004787,essv5040051,essv5119536,essv5096730,essv5005881,essv5143407,essv5071509,essv5111935,essv5141895,essv5123478,essv5103182,essv5076763,essv5085539,essv5144382,essv5161219,essv5068026,essv5076431,essv5067951,essv5003425,essv5101152,essv5132681,essv5105058,essv5080469,essv5113309,essv5088683,essv5106181,essv5111966,essv5049774,essv5059418,essv5125328,essv5157490,essv5050961,essv5010027,essv5033803,essv5114939,essv5085130,essv5041572,essv5065964,essv5060291,essv5037464,essv5010248,essv5013881,essv5156270,essv5021693,essv5026971,essv5031197,essv5052161,essv5027619,essv5083905,essv5111936,essv5130958,essv5133194,essv5021107,essv5150650,essv5104314,essv5131550,essv5147567,essv5087252,essv5130126,essv5048838,essv5148754,essv5076625,essv5041801,essv5144499,essv5118628,essv5051603,essv5051182,essv5092861,essv5159071,essv5103830,essv5161124,essv5060259,essv5018139,essv5112887,essv5034552,essv5100128,essv5039586,essv5099927,essv5032014,essv5021612,essv5073540,essv5033018,essv5062324,essv5104850,essv5121072,essv5040777,essv5072885,essv5096172,essv5097831,essv5013502,essv5126828,essv5019987,essv5057036,essv5101020,essv5136265,essv5056204,essv5114584,essv5097797,essv5079591,essv5160220,essv5107909,essv5049017,essv5139768,essv5120998,essv5011342,essv5090026,essv5033244,essv5151030,essv5089560,essv5127997,essv5027310,essv5046284,essv5085104,essv5150086,essv5144544,essv5127895,essv5099211,essv5028809,essv5147166,essv5017167,essv5146329,essv5069136,essv5023176,essv5149968,essv5023458,essv5059887,essv5087597,essv5160257,essv5100417,essv5130717,essv5041342,essv5087735,essv5060607,essv5090162,essv5101789,essv5052141,essv5138291,essv5143933,essv5022625,essv5148911,essv5024499,essv5107917,essv5067069,essv5148945,essv5057050,essv5100143,essv5081145,essv5020396,essv5018112,essv5066445,essv5036211,essv5132501,essv5032087,essv5016299,essv5118234,essv5079386,essv5002259,essv5138229,essv5026510,essv5012932,essv5026544,essv5022518,essv5067748,essv5132830,essv5071600,essv5018905,essv5131024,essv5015720,essv5153892,essv5052747,essv5099713,essv5007104,essv5074503,essv5005936,essv5060480,essv5150426,essv5088208,essv5132417,essv5035062,essv5016813,essv5024875,essv5101697,essv5094512,essv5031823,essv5015628,essv5091735,essv5126900,essv5081219,essv5066308,essv5002558,essv5155149,essv5147691,essv5091135,essv5008361,essv5056605,essv5147221,essv5034422,essv5110675,essv5086962,essv5138212,essv5016465,essv5007198,essv5098624,essv5031707,essv5113008,essv5074293,essv5149074,essv5002826,essv5101236,essv5031991,essv5104722,essv5159859,essv5063183,essv5068908,essv5083759,essv5090495,essv5015091,essv5048363,essv5043170,essv5111638,essv5036110,essv5059684,essv5081666,essv5156921,essv5109381,essv5147798,essv5005030,essv5096501,essv5013002,essv5064680,essv5107038,essv5047746,essv5089333,essv5064627,essv5023937,essv5002802,essv5110515,essv5069942,essv5160688,essv5126537,essv5080985,essv5146159,essv5042112,essv5032438,essv5111613,essv5135037,essv5060544,essv5146420,essv5036069,essv5009764,essv5159608,essv5113445,essv5072326,essv5087711,essv5038137,essv5040869,essv5139058,essv5034275,essv5052887,essv5080318,essv5159724,essv5033006,essv5033648,essv5032549,essv5024613,essv5004717,essv5054966,essv5009448,essv5005681,essv5089107,essv5062059,essv5081655,essv5096885,essv5087551,essv5146542,essv5140529,essv5020139,essv5025260,essv5087922,essv5015797,essv5140465,essv5095537,essv5139940,essv5091972,essv5053441,essv5146773,essv5062836,essv5143307,essv5113944,essv5140482,essv5051891,essv5088122,essv5053717,essv5090653,essv5137656,essv5049946,essv5090029,essv5023327,essv5082964,essv5039928,essv5075215,essv5011545,essv5147397,essv5131091,essv5125648,essv5040349,essv5020567,essv5077226,essv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M 1184 0 1128 "" 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esv1160397 9 135172612 135172612 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3719038 S 2 1 0 "" HuRef nsv894079 9 135184633 135214714 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510791 S 6533 0 1 MED22,RPL7A,SNORD24,SNORD36A,SNORD36B,SNORD36C,SURF1,SURF2,SURF6 SP54988 nsv894080 9 135184633 135300729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509944 S 6533 0 1 ADAMTS13,C9orf96,MED22,REXO4,RPL7A,SNORD24,SNORD36A,SNORD36B,SNORD36C,SURF1,SURF2,SURF4,SURF6 SP54956 nsv894081 9 135217081 135668775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543555 S 6533 0 1 ADAMTS13,ADAMTSL2,C9orf7,C9orf96,DBH,FAM163B,REXO4,SARDH,SLC2A6,SURF2,SURF4,TMEM8C,VAV2 MS16153 nsv512995 9 135239768 135239862 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625651 S 1 1 0 C9orf96 1 nsv512996 9 135248140 135248322 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625652 S 1 1 0 C9orf96 1 nsv433408 9 135254314 135267303 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463289 S 9 1 0 C9orf96,REXO4 NA15510 nsv894082 9 135269253 135287701 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510792 S 6533 0 1 ADAMTS13,REXO4 SP54988 dgv8328n71 9 135271574 135468263 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894084,nsv894093,nsv894085,nsv894083,nsv894092 M 6533 0 23 ADAMTS13,ADAMTSL2,C9orf7,FAM163B,REXO4,SLC2A6,TMEM8C IS30197,IS31082,IS32322,IS33162,IS33669,IS33684,IS34235,IS34304,IS35007,IS37985,IS38293,IS38403,IS39233,IS40230,IS40799,IS41410,MS10769,MS11237,MS11306,MS11726,MS13095,MS16315,MS18276 nsv894086 9 135271574 135647781 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587137 S 6533 1 0 ADAMTS13,ADAMTSL2,C9orf7,DBH,FAM163B,REXO4,SARDH,SLC2A6,TMEM8C,VAV2 IS37986 nsv894087 9 135275560 135300729 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508060 S 6533 1 0 ADAMTS13 SP54620 dgv8329n71 9 135277403 135289758 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894089,nsv894088 M 6533 0 2 ADAMTS13 SP54657,SP54782 nsv894090 9 135277403 135300729 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499377 S 6533 0 1 ADAMTS13 SP50159 esv26825 9 135283705 135284700 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14705 S 451 0 1 ADAMTS13 NA12006 nsv894091 9 135287701 135308889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1516738 S 6533 0 1 ADAMTS13 SP56926 nsv894094 9 135301500 135518542 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538638 S 6533 0 1 ADAMTS13,ADAMTSL2,C9orf7,DBH,FAM163B,SARDH,SLC2A6,TMEM8C MS13770 nsv894095 9 135308889 135318478 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505986 S 6533 0 1 ADAMTS13,C9orf7 SP54043 nsv894096 9 135308889 135341748 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509945 S 6533 0 1 ADAMTS13,C9orf7,SLC2A6 SP54956 dgv1243n67 9 135314396 135315607 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825144,nsv825145 M 31 2 0 C9orf7 AK2,AK4 nsv894097 9 135323177 135397029 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499903 S 6533 0 1 ADAMTSL2,C9orf7,SLC2A6,TMEM8C SP50159 dgv8330n71 9 135325645 135449364 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894098,nsv894099 M 6533 0 4 ADAMTSL2,C9orf7,FAM163B,SLC2A6,TMEM8C IS36876,IS37577,IS38388,IS41648 nsv894100 9 135361045 135537423 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543167 S 6533 1 0 ADAMTSL2,DBH,FAM163B,SARDH,TMEM8C MS16066 nsv894101 9 135368471 135448132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591447 S 6533 0 1 ADAMTSL2,FAM163B,TMEM8C IS38840 esv2171055 9 135368842 135369579 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823885 S 1 0 1 TMEM8C NA18507 esv3079 9 135368974 135369443 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25520 S 1 0 1 Single Asian sample YH "" YH dgv267n6 9 135369032 135369385 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv415525,nsv415631 M 24 "" esv994895 9 135369037 135369378 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571592 S 3 0 1 "" HuRef esv1486561 9 135369043 135369385 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3850923 S 2 0 1 "" HuRef esv6067 9 135369044 135369371 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28508 S 1 0 1 "" SJK nsv894102 9 135378044 135486529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585900 S 6533 0 1 ADAMTSL2,FAM163B,TMEM8C IS37646 dgv8331n71 9 135387016 135432013 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894103,nsv894104 M 6533 0 2 ADAMTSL2 SP54956,SP54988 esv22841 9 135398621 135408331 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16769 S 451 1 0 ADAMTSL2 NA18508 esv2226113 9 135403738 135404437 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4762622 S 1 0 1 ADAMTSL2 NA18507 esv4384 9 135403841 135404357 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26825 S 1 0 1 Single Asian sample YH ADAMTSL2 YH esv7691 9 135403930 135404214 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30132 S 1 0 1 ADAMTSL2 SJK esv1693178 9 135403937 135404261 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240399 S 2 0 1 ADAMTSL2 HuRef dgv2425e1 9 135421422 135445510 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7045,essv20033,esv306,essv5417 M 271 0 0 ADAMTSL2,FAM163B NA07048,NA18563,NA18612 nsv428225 9 135421422 135445510 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451777,nssv451774,nssv451776 M 62 0 3 ADAMTSL2,FAM163B HGDP01087,HGDP01089,HGDP01093 nsv8575 9 135442395 135446234 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21713 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv521138 9 135444521 135446967 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682818,nssv685889 M 2026 0 2 "" esv33269 9 135444946 135449536 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101504,essv93917 M 51 1 1 "" 21603,21634 nsv894105 9 135469392 135507918 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534720 S 6533 0 1 DBH MS11726 dgv8332n71 9 135479360 135569410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894107,nsv894106 M 6533 0 2 DBH,SARDH MS10311,MS18276 nsv528255 9 135484387 135486529 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704821 S 2026 0 1 "" nsv469906 9 135484387 135498904 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545923,nssv545924 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DBH HGDP00789,HGDP00882 nsv466615 9 135487964 135495062 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542117 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DBH HGDP00445 nsv466618 9 135494419 135509523 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542120 S 1557 0 1 DBH NINDS_66 nsv894108 9 135497294 135607113 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575076 S 6533 0 1 DBH,SARDH IS33684 nsv894109 9 135502336 135512806 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499876 S 6533 0 1 DBH SP50561 nsv894110 9 135502336 135532689 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546409 S 6533 0 1 DBH,SARDH MS17208 nsv466619 9 135505118 135518542 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542121 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DBH,SARDH HGDP00961 dgv8333n71 9 135512806 135560910 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894112,nsv894111 M 6533 0 2 DBH,SARDH IS37646,IS39233 esv998446 9 135515500 135525653 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564683 S 3 0 1 SARDH HuRef nsv512123 9 135523059 135524629 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624682 S 1 0 1 SARDH 1 esv21852 9 135523302 135524254 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18378 S 451 1 0 SARDH NA11995 nsv511411 9 135523382 135526454 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626019 S 1 0 1 SARDH 1 nsv894113 9 135528619 135576188 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546705 S 6533 0 1 SARDH MS17208 nsv894114 9 135528619 135768974 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538639 S 6533 0 1 SARDH,VAV2 MS13770 esv4163 9 135537544 135537927 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26604 S 1 0 1 Single Asian sample YH SARDH YH nsv466620 9 135540638 135560910 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542122 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SARDH HGDP00788 nsv469907 9 135542084 135590022 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545928,nssv545925,nssv545926,nssv545927 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SARDH HGDP00546,HGDP00657,HGDP00883,HGDP01412 nsv8576 9 135556452 135569094 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23142 S 31 1 0 Samples from several populations that are part of the HapMap project. SARDH NA19221 esv995816 9 135560270 135560375 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574231 S 3 0 1 SARDH HuRef nsv894115 9 135560910 135607113 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584366 S 6533 1 0 SARDH IS36973 nsv519503 9 135561842 135571240 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696888 S 2026 1 0 SARDH nsv894116 9 135561842 135598490 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1578999,nssv1571218 M 6533 1 1 SARDH IS32644,IS35007 dgv95n68 9 135583523 135770094 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH nsv831745,nsv831746 M 95 0 27 SARDH,VAV2 nsv894117 9 135590022 135706220 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530650 S 6533 0 1 SARDH,VAV2 MS10311 nsv8577 9 135597619 135611666 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18929 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19173 nsv466622 9 135607113 135648637 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542123 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VAV2 HGDP00244 esv25764 9 135607134 135607905 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17629 S 451 1 0 "" NA11995 esv2424514 9 135610497 135610877 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5339008 S 1 1 0 "" NA18507 nsv512997 9 135610600 135610674 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625653 S 1 1 0 "" 1 dgv8334n71 9 135614363 135682608 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894121,nsv894118 M 6533 0 2 VAV2 IS35484,MS17208 nsv512124 9 135614637 135616099 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624683 S 1 0 1 "" 1 esv8046 9 135615012 135616058 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30487 S 1 0 1 "" SJK esv28453 9 135615059 135615949 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17371 S 451 21 0 "" NA06985,NA11995,NA12004,NA12044,NA12489,NA12776,NA18502,NA18505,NA18508,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv1244n67 9 135615059 135616046 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825147,nsv825146 M 31 5 14 "" AK14,AK16,AK18,AK2,AK20,NA18526,NA18537,NA18542,NA18547,NA18564,NA18566,NA18570,NA18582,NA18592,NA18947,NA18968,NA18969,NA18972,NA18997 dgv201e180 9 135615059 135616046 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv994981,esv987787 M 3 1 0 "" HuRef nsv821127 9 135615059 135616046 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420830 S 1 0 1 "" NA10851 esv1388158 9 135615833 135615833 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3893989 S 2 1 0 "" HuRef dgv8335n71 9 135619220 135652459 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894119,nsv894120 M 6533 0 2 VAV2 IS33684,MS11237 nsv894122 9 135622483 135750460 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549775 S 6533 0 1 VAV2 MS18276 esv1173174 9 135646905 135646905 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4139197 S 2 1 0 VAV2 HuRef esv23592 9 135672205 135672986 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16206 S 451 0 1 VAV2 NA18909 nsv894123 9 135672229 135842322 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543556 S 6533 0 1 VAV2 MS16153 esv2558146 9 135681702 135683786 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5200880 S 1 0 1 VAV2 NA18507 esv1008803 9 135681834 135684717 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565794 S 3 0 1 VAV2 HuRef esv2089947 9 135681933 135682522 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5001809 S 1 0 1 VAV2 NA18507 nsv512125 9 135681959 135683436 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624684 S 1 0 1 VAV2 1 esv2075786 9 135681985 135683122 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583319 S 1 0 1 VAV2 NA18507 esv29560 9 135682165 135683455 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9919 S 451 22 0 VAV2 NA06985,NA07037,NA07045,NA11894,NA11931,NA12006,NA12156,NA12749,NA12828,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19225 esv1659384 9 135682188 135682243 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3911934 S 2 0 1 VAV2 HuRef esv1759403 9 135682476 135682531 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027849 S 2 0 1 VAV2 HuRef esv9620 9 135682517 135683392 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32061 S 1 0 1 VAV2 SJK nsv894124 9 135706220 135860608 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587138 S 6533 1 0 VAV2 IS37986 nsv894125 9 135713341 135921778 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530651 S 6533 0 1 BRD3,LINC00094,VAV2 MS10311 nsv6750 9 135713962 135717247 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8673 S 9 1 0 VAV2 NA12156 dgv8336n71 9 135737653 135768974 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894129,nsv894126 M 6533 0 5 VAV2 IS32322,IS33504,IS37646,IS39233,MS17208 nsv894127 9 135737653 135801593 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532428 S 6533 0 1 VAV2 MS10769 dgv8337n71 9 135743067 135896573 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894130,nsv894128,nsv894131 M 6533 0 3 BRD3,LINC00094,VAV2 MS10123,MS13095,MS18276 nsv466623 9 135745411 135752053 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542124 S 1557 0 1 VAV2 1780862403_A esv21707 9 135746015 135747279 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12678 S 451 2 0 VAV2 NA06985,NA12044 nsv821593 9 135746015 135747279 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420831 S 1 0 1 VAV2 NA10851 nsv437652 9 135748407 135757122 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467533 S 60 0 1 Samples from several populations that are part of the HapMap project. VAV2 NA19221 nsv466624 9 135749408 135761140 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542125 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VAV2 HGDP01163 esv2484363 9 135750392 135752063 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5325526 S 1 0 1 VAV2 NA18507 nsv523970 9 135750672 135752621 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699822 S 2026 0 1 VAV2 esv2142197 9 135750677 135751242 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4571514 S 1 0 1 VAV2 NA18507 esv1105871 9 135750874 135751102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4119986 S 2 0 1 VAV2 HuRef nsv521178 9 135752053 135757122 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704754,nssv702065,nssv685857,nssv683907,nssv704331 M 2026 0 5 VAV2 nsv466625 9 135752621 135777793 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542126 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations VAV2 HGDP00927 nsv831748 9 135778305 135934147 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448086,nssv1448085 M 95 0 2 BRD3,LINC00094,VAV2 nsv466626 9 135797591 135825164 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542127 S 1557 0 1 VAV2 1780862345_A nsv831749 9 135799021 135905585 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448087 S 95 0 1 BRD3,LINC00094,VAV2 nsv894132 9 135803162 135940512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1570750 S 6533 0 1 BRD3,LINC00094,VAV2 IS32322 nsv428226 9 135814856 135984427 CNV Loss Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451778 S 62 0 1 BRD3,LINC00094,VAV2 HGDP00449 dgv8338n71 9 135829661 135882344 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894134,nsv894133 M 6533 0 2 LINC00094,VAV2 IS37646,SP54956 dgv8339n71 9 135829661 135940512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894135,nsv894136,nsv894137 M 6533 0 3 BRD3,LINC00094,VAV2 IS34235,IS39233,IS41634 dgv8340n71 9 135829661 136233032 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894138,nsv894148 M 6533 0 2 BRD3,LINC00094,RNU6ATAC,VAV2,WDR5 IS33684,MS10769 nsv825148 9 135838292 136024670 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439022 S 31 1 0 BRD3,LINC00094,RNU6ATAC,VAV2,WDR5 NA18973 esv26262 9 135846375 135848378 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12802 S 451 0 2 VAV2 NA07037,NA07045 esv23931 9 135852446 135853796 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15996 S 451 0 1 "" NA12414 esv1993828 9 135853308 135853983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4844601 S 1 0 1 "" NA18507 esv8797 9 135853469 135853838 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31238 S 1 0 1 "" SJK dgv8341n71 9 135853753 135940512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894141,nsv894147,nsv894139,nsv894146,nsv894149 M 6533 0 6 BRD3,LINC00094 IS33455,IS33504,IS33601,IS34005,IS39417,SP54988 dgv8342n71 9 135855700 135917478 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894140,nsv894145 M 6533 0 2 BRD3,LINC00094 IS33178,IS33665 esv2587638 9 135857584 135858618 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5355492 S 1 1 0 "" NA18507 esv6559 9 135860349 135860437 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29000 S 1 1 0 "" SJK dgv8343n71 9 135860608 135899082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894142,nsv894143,nsv894144 M 6533 0 4 BRD3,LINC00094 IS34407,IS39464,IS41243,MS10698 nsv466627 9 135860608 135928782 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542128 S 1557 0 1 BRD3,LINC00094 1780862416_A esv996762 9 135866631 135869498 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586090 S 3 0 1 "" HuRef esv28372 9 135866793 135869680 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17944 S 451 8 16 "" NA06985,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12749,NA12776,NA15510,NA18502,NA18505,NA18511,NA18517,NA18861,NA18907,NA18916,NA19099,NA19108,NA19225 esv996614 9 135867062 135867301 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565898 S 3 0 1 "" HuRef esv1217692 9 135867117 135867117 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957764 S 2 1 0 "" HuRef esv1269684 9 135867813 135869133 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3998619 S 2 0 1 "" HuRef nsv894150 9 135877578 135934648 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584811 S 6533 0 1 BRD3,LINC00094 IS37172 dgv8344n71 9 135877578 136537430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894151,nsv894155 M 6533 0 2 BRD3,LINC00094,MIR4669,RNU6ATAC,RXRA,WDR5 MS10311,MS16153 nsv512998 9 135879817 135880638 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625654 S 1 1 0 LINC00094 1 nsv466629 9 135883688 135928782 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542130 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations BRD3,LINC00094 HGDP01283 nsv825149 9 135906532 135907426 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437605 S 31 1 0 BRD3 NA18949 nsv894152 9 135910836 135940512 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507523 S 6533 0 1 BRD3 SP54725 esv25492 9 135922189 135923677 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16078 S 451 0 2 BRD3 NA07037,NA07045 nsv526561 9 135928782 135976732 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702877 S 2026 1 0 "" nsv466631 9 135934648 135983411 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542131 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01249 nsv6751 9 135957296 135996952 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6300,nssv1809 M 9 0 2 WDR5 NA12156,NA18555 nsv416109 9 135964086 135967415 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434687 M 24 "" esv2613974 9 135964246 135965978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5285976 S 1 0 1 "" NA18507 nsv416545 9 135964593 135964896 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435123 M 24 "" esv1010525 9 135968015 135974724 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565075 S 3 0 1 "" HuRef esv1261185 9 135988154 135989091 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3632112 S 2 0 1 "" HuRef nsv831750 9 136245273 136366994 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448097,nssv1448088,nssv1448091,nssv1448089,nssv1448099,nssv1448090,nssv1448098,nssv1448092,nssv1448096,nssv1448094,nssv1448093 M 95 1 10 RXRA esv2414756 9 136286128 136286578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4700020 S 1 0 1 "" NA18507 dgv8346n71 9 136289075 136494425 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894157,nsv894158,nsv894162 M 6533 0 3 MIR4669,RXRA IS33162,IS37646,MS13095 nsv894159 9 136289075 136552476 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587139 S 6533 1 0 MIR4669,RXRA IS37986 dgv8347n71 9 136293367 136552476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894160,nsv894161 M 6533 0 2 MIR4669,RXRA MS17208,MS18276 esv4654 9 136294291 136294876 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27095 S 1 0 1 Single Asian sample YH "" YH nsv466632 9 136303539 136355649 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542132 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00785 nsv469908 9 136310235 136477178 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545929,nssv545931,nssv545933,nssv545930 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4669,RXRA HGDP00315,HGDP00556,HGDP00825,HGDP01397 nsv6752 9 136310505 136355165 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8674 S 9 0 1 "" NA12156 esv1083153 9 136317256 136317256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4220718 S 2 1 0 "" HuRef nsv466633 9 136321920 136383204 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542133 S 1557 0 1 RXRA 1780862444_A nsv894163 9 136326345 136439770 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575079,nssv1534721 M 6533 0 2 MIR4669,RXRA IS33684,MS11726 dgv8348n71 9 136326345 136509021 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894169,nsv894167,nsv894164,nsv894165,nsv894168 M 6533 0 6 MIR4669,RXRA IS33504,IS38403,IS39233,MS10123,MS11306,MS13770 nsv466634 9 136337059 136406525 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542134 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RXRA HGDP00857 nsv894166 9 136345043 136472132 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584368 S 6533 1 0 MIR4669,RXRA IS36973 nsv825150 9 136356611 136358840 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423919 S 31 1 0 RXRA NA18547 esv27796 9 136357550 136359152 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17827 S 451 0 1 RXRA NA07037 nsv511426 9 136358178 136358607 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626037 S 1 1 0 RXRA 1 dgv8349n71 9 136383204 136493115 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894172,nsv894170,nsv894171,nsv894174,nsv894173 M 6533 0 12 MIR4669,RXRA IS30197,IS32322,IS32888,IS33455,IS34304,IS35007,IS35484,IS38293,MS11237,MS11579,MS19488,SP50159 esv1003062 9 136408261 136408261 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569430 S 3 1 0 RXRA HuRef esv1103609 9 136408319 136408319 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4104192 S 2 1 0 RXRA HuRef nsv894175 9 136425324 136488413 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1600524 S 6533 0 1 RXRA IS41894 esv2561499 9 136425460 136425958 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300167 S 1 1 0 RXRA NA18507 nsv512999 9 136425963 136426194 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625656 S 1 1 0 RXRA 1 nsv894176 9 136428567 136452649 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509948 S 6533 0 1 RXRA SP54956 nsv894177 9 136428567 136472132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584812 S 6533 0 1 RXRA IS37172 nsv428227 9 136431368 136765018 CNV Gain Perry et al 2008b 18775914 BAC_aCGH,FISH,PCR Sanger H. sapiens Whole Genome Tile Path 28.7k v3 nssv451779 S 62 1 0 COL5A1,RXRA HGDP00462 nsv831751 9 136431386 136607735 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448100,nssv1448101 M 95 0 2 RXRA nsv466635 9 136431391 136492093 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542135 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RXRA HGDP00892 nsv831752 9 136433904 136532495 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448110,nssv1448118,nssv1448111,nssv1448108,nssv1448112,nssv1448115,nssv1448114,nssv1448113,nssv1448116,nssv1448120,nssv1448119,nssv1448107,nssv1448109,nssv1448105,nssv1448104,nssv1448102,nssv1448103 M 95 0 17 RXRA nsv466636 9 136439770 136475342 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542136 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations RXRA HGDP00515 nsv894178 9 136451221 136555140 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532430 S 6533 0 1 RXRA MS10769 esv2105964 9 136454054 136454475 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503530 S 1 0 1 RXRA NA18507 nsv825151 9 136468257 136472703 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441233 S 31 1 0 RXRA NA18969 nsv825152 9 136470694 136472301 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439023 S 31 1 0 RXRA NA18973 nsv825153 9 136470706 136472301 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435259 S 31 0 1 RXRA NA18942 nsv894179 9 136477178 136507833 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1575080 S 6533 0 1 "" IS33684 nsv469909 9 136488413 136524797 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545934 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00825 esv1007295 9 136495063 136505862 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563492 S 3 0 1 "" HuRef esv23391 9 136495846 136499121 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11104 S 451 0 17 "" NA11894,NA11995,NA12287,NA12489,NA12776,NA12828,NA18502,NA18505,NA18517,NA18523,NA18858,NA18916,NA19099,NA19108,NA19225,NA19240,NA19257 esv990464 9 136496141 136498696 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586375 S 3 0 1 "" HuRef esv1229829 9 136496285 136498223 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3814255 S 2 0 1 "" HuRef dgv8350n71 9 136497443 136537430 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894182,nsv894180,nsv894181 M 6533 0 3 "" IS33178,IS33504,IS41243 nsv416382 9 136498020 136498646 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434960 M 24 "" nsv818730 9 136504687 136515594 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417735 S 112 0 1 "" NA19003 esv1652699 9 136507712 136507712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4061613 S 2 1 0 "" HuRef esv1363828 9 136507776 136507776 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4110183 S 2 1 0 "" HuRef esv1648933 9 136507911 136507911 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973112 S 2 1 0 "" HuRef nsv894183 9 136526850 136577004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529831 S 6533 0 1 "" MS10123 dgv8351n71 9 136526850 136643516 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894184,nsv894185 M 6533 0 2 "" MS10311,MS17208 esv1161463 9 136533125 136533125 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4246836 S 2 1 0 "" HuRef nsv415998 9 136533129 136533129 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434576 M 24 "" esv2063580 9 136536614 136536998 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904706 S 1 0 1 "" NA18507 nsv466637 9 136553438 136566756 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542137 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00819 esv29178 9 136555376 136556548 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20074 S 451 1 0 "" NA12239 esv1014293 9 136555985 136555985 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4126241 S 2 1 0 "" HuRef esv1060341 9 136556273 136556533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3817240 S 2 0 1 "" HuRef nsv894186 9 136557129 136568246 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584369 S 6533 1 0 "" IS36973 nsv894187 9 136566155 136809823 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549778 S 6533 0 1 COL5A1 MS18276 esv2429240 9 136581237 136582218 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170342 S 1 1 0 "" NA18507 esv1075515 9 136581831 136581831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3824292 S 2 1 0 "" HuRef esv1105692 9 136581922 136581922 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4259279 S 2 1 0 "" HuRef nsv466638 9 136583717 136625697 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542138 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01268 esv24683 9 136604471 136606646 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20956 S 451 2 0 "" NA18916,NA19240 esv24418 9 136635373 136636472 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10204 S 451 0 1 "" NA18858 nsv894188 9 136649965 136692219 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543558 S 6533 0 1 COL5A1 MS16153 esv2356177 9 136654017 136654578 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4505225 S 1 0 1 "" NA18507 esv1629247 9 136654413 136654514 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142041 S 2 0 1 "" HuRef nsv894189 9 136656843 136732782 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530654 S 6533 0 1 COL5A1 MS10311 esv24238 9 136685211 136689769 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19099,esv17296 M 451 0 2 COL5A1 NA12006,NA12414 nsv513000 9 136688517 136688833 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625657 S 1 1 0 COL5A1 1 nsv894190 9 136713430 136773364 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584370 S 6533 1 0 COL5A1 IS36973 dgv8352n71 9 136721140 136879801 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894194,nsv894191 M 6533 0 2 COL5A1 IS37646,MS16153 nsv894192 9 136727589 136750244 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530380 S 6533 0 1 COL5A1 MS10311 nsv894193 9 136736770 136786332 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538419,nssv1597300 M 6533 0 2 COL5A1 IS40799,MS13727 nsv469910 9 136738552 136782398 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545938,nssv545936,nssv545937,nssv545935 M 443 0 4 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations COL5A1 HGDP00298,HGDP00302,HGDP00313,HGDP00546 esv2493043 9 136760977 136761501 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343274 S 1 1 0 COL5A1 NA18507 nsv894195 9 136764963 136975069 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587140 S 6533 1 0 COL5A1,FCN1,FCN2,MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F IS37986 nsv818731 9 136771019 136787135 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417707 S 112 1 0 COL5A1 NA18999 dgv8353n71 9 136787135 136827135 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894197,nsv894196 M 6533 0 2 COL5A1 MS10311,MS17208 esv1302373 9 136791731 136792485 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3945657 S 2 0 1 COL5A1 HuRef esv2390401 9 136791905 136792276 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4699993 S 1 0 1 COL5A1 NA18507 nsv6753 9 136801159 136845418 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1810 S 9 0 1 COL5A1 NA18555 nsv466640 9 136809823 136827135 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542139 S 1557 0 1 COL5A1 1780862403_A nsv510207 9 136818301 136824301 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622183 S 4 0 1 COL5A1 NA10860 esv1304752 9 136824519 136824589 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3734087 S 2 0 1 COL5A1 HuRef esv2052149 9 136830059 136830484 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4940775 S 1 0 1 COL5A1 NA18507 nsv416329 9 136830237 136830320 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434907 M 24 COL5A1 dgv8354n71 9 136840570 136883130 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894198,nsv894200,nsv894201 M 6533 0 3 COL5A1,MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F IS39233,MS11306,MS18276 nsv894199 9 136840570 137071655 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546712 S 6533 0 1 COL5A1,FCN1,FCN2,MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F MS17208 nsv894202 9 136862132 136902678 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538641 S 6533 0 1 COL5A1,MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F MS13770 esv25704 9 136879716 136882706 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20641 S 451 9 0 MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F NA11995,NA12156,NA12239,NA12287,NA12414,NA12749,NA12878,NA15510,NA19225 nsv512126 9 136879728 136881689 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624685 S 1 0 1 MIR3689A,MIR3689C,MIR3689D1 1 nsv511431 9 136879801 136882751 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626042 S 1 0 1 MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F 1 esv994946 9 136880451 136882596 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586431 S 3 0 1 MIR3689A,MIR3689B,MIR3689C,MIR3689D1,MIR3689D2,MIR3689E,MIR3689F HuRef esv1645882 9 136881065 136881209 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129491 S 2 0 1 "" HuRef nsv416186 9 136881149 136881244 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434764 M 24 "" esv23165 9 136882706 136884436 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18874 S 451 0 1 "" NA12414 nsv831753 9 136917134 137070753 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448121 S 95 0 1 FCN1,FCN2 nsv894203 9 136924089 136950080 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584371 S 6533 1 0 FCN1 IS36973 nsv825155 9 136943986 136945247 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432236 S 31 0 1 FCN1 AK20 dgv8355n71 9 136971025 137035659 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894205,nsv894204 M 6533 0 2 "" IS39233,MS18276 nsv894206 9 136992327 137040516 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537102 S 6533 0 1 "" MS13095 nsv894207 9 136999226 137190069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530656 S 6533 0 1 OLFM1 MS10311 esv2107224 9 137010370 137010861 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4743712 S 1 0 1 "" NA18507 esv2296585 9 137010748 137011163 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4637168 S 1 0 1 "" NA18507 nsv416656 9 137010943 137011026 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435234 M 24 "" nsv6755 9 137033100 137061376 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6301 S 9 1 0 "" NA12156 nsv415814 9 137046233 137046302 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434392 M 24 "" nsv831754 9 137053485 137197716 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448123,nssv1448122 M 95 0 2 OLFM1 nsv894208 9 137064075 137102689 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584372 S 6533 1 0 "" IS36973 nsv894209 9 137064075 137127054 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537103 S 6533 0 1 OLFM1 MS13095 nsv509330 9 137105971 137205872 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619566 S 4 1 0 OLFM1 NA10860 esv2025540 9 137115798 137116194 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4906913 S 1 0 1 OLFM1 NA18507 nsv6756 9 137120842 137140470 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv842 S 9 1 0 OLFM1 NA19240 nsv513001 9 137127621 137127839 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625658 S 1 1 0 OLFM1 1 esv1343927 9 137127831 137127831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3615502 S 2 1 0 OLFM1 HuRef nsv825156 9 137128338 137133242 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439024 S 31 1 0 OLFM1 NA18973 nsv825157 9 137128503 137131623 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441234 S 31 1 0 OLFM1 NA18969 dgv8356n71 9 137128752 137172512 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894212,nsv894210 M 6533 0 2 OLFM1 MS16153,MS18276 nsv894211 9 137135632 137153838 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546713 S 6533 0 1 OLFM1 MS17208 esv29590 9 137149735 137151135 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11136 S 451 0 1 OLFM1 NA12828 nsv894213 9 137155534 137190069 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529832 S 6533 0 1 "" MS10123 nsv466641 9 137156519 137173154 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542140 S 1557 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01019 esv1063711 9 137160930 137160930 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4162132 S 2 1 0 "" HuRef nsv415426 9 137194001 137194201 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434004 M 24 "" esv1024091 9 137194160 137194227 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236957 S 2 0 1 "" HuRef nsv416071 9 137194180 137194246 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434649 M 24 "" esv2391827 9 137194277 137194642 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4777231 S 1 0 1 "" NA18507 esv1438516 9 137194315 137194449 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802352 S 2 0 1 "" HuRef dgv8357n71 9 137194502 137263057 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894214,nsv894215 M 6533 0 2 "" MS10311,MS16153 dgv8358n71 9 137196156 137226410 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894216,nsv894219,nsv894220 M 6533 0 3 "" IS33684,IS39233,MS18276 nsv894217 9 137196156 137310155 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534722 S 6533 0 1 "" MS11726 nsv8578 9 137196679 137358994 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18879,nssv17696,nssv17122,nssv21743,nssv16835,nssv16810,nssv18636,nssv21291,nssv18873,nssv19388,nssv18977,nssv18607,nssv16669,nssv18585,nssv18316,nssv20068,nssv18408,nssv16481,nssv17974 M 31 19 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18537,NA18552,NA18563,NA18564,NA18572,NA18860,NA18942,NA18972,NA19007,NA19144 nsv894218 9 137201080 137217248 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587141 S 6533 1 0 "" IS37986 esv2013658 9 137208975 137209335 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4660208 S 1 0 1 "" NA18507 esv6879 9 137209320 137209391 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29320 S 1 1 0 "" SJK dgv8359n71 9 137227700 137328268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894223,nsv894221 M 6533 0 2 "" MS10123,MS11237 esv1568549 9 137232611 137232671 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3985839 S 2 0 1 "" HuRef nsv894222 9 137234180 137263057 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546714 S 6533 0 1 "" MS17208 nsv416893 9 137239709 137240085 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435471 M 24 "" dgv8360n71 9 137244318 137317268 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894226,nsv894225,nsv894224 M 6533 0 3 "" MS10204,MS11306,MS11669 dgv263e55 9 137256982 137473876 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752283,esv2752282,esv2752284 M 771 3 0 "" BEC_131,BEC_22,BEC_311 nsv526571 9 137260395 137267562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702887 S 2026 0 1 "" dgv8361n71 9 137268849 137297618 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894227,nsv894230,nsv894229 M 6533 0 4 "" IS32322,IS32888,IS39233,MS18276 dgv8362n71 9 137268849 137310155 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894232,nsv894231,nsv894228 M 6533 0 4 "" IS33504,IS33684,MS10311,MS10769 dgv8363n71 9 137274170 137450751 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894233,nsv894238 M 6533 0 2 "" MS10311,MS17208 nsv818732 9 137279327 137286649 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417545 S 112 0 1 "" NA18971 nsv818734 9 137279327 137291321 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417300 S 112 0 1 "" NA18608 dgv952n27 9 137279327 137450751 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466655,nsv466642,nsv466648,nsv466653,nsv466643 M 1557 5 0 "" 1780854017_A,1780854090_A,1780862066_A,1782681087_A,1798860567_A nsv416034 9 137282325 137282325 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434612 M 24 "" nsv894234 9 137282966 137317268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585906 S 6533 0 1 "" IS37646 nsv894235 9 137282966 137339138 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543562 S 6533 0 1 "" MS16153 nsv466646 9 137286649 137395729 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542143 S 1557 1 0 "" 1798860372_A esv26412 9 137287086 137450120 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12609,esv10999,esv10832,esv10645 M 451 24 3 "" NA06985,NA07037,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12776,NA12828,NA12878,NA15510,NA18861,NA18907,NA18909,NA18916,NA19114,NA19129,NA19225,NA19240,NA19257 nsv517428 9 137288987 137500991 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703715,nssv655985,nssv652001,nssv681068,nssv696539,nssv658114,nssv705895 M 2026 5 2 LOC100506599 nsv416620 9 137290494 137290549 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435198 M 24 "" nsv415351 9 137290542 137290625 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433929 M 24 "" esv1142988 9 137293224 137293580 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3775898 S 2 0 1 "" HuRef esv1171617 9 137293737 137293811 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3841017 S 2 0 1 "" HuRef esv2752285 9 137298876 137450244 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981213,essv6981211,essv6981212 M 771 1 0 "" BEC_363 nsv894236 9 137299197 137317268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1537104 S 6533 0 1 "" MS13095 nsv894237 9 137303859 137383202 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587142 S 6533 1 0 "" IS37986 nsv831755 9 137304720 137448749 CNV Gain+Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448125,nssv1448124 M 95 1 1 "" nsv894239 9 137311515 137328268 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538642 S 6533 0 1 "" MS13770 esv2154954 9 137311926 137312321 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4510009 S 1 0 1 "" NA18507 nsv415486 9 137312136 137312194 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434064 M 24 "" nsv469912 9 137313047 137403552 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545941,nssv545940,nssv545939 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00546,HGDP00556,HGDP00657 nsv6757 9 137316923 137363000 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1811 S 9 0 1 "" NA18555 dgv1245n67 9 137333761 137335583 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825160,nsv825159,nsv825158 M 31 0 3 "" AK2,NA18552,NA18582 nsv415694 9 137333958 137336077 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434272 M 24 "" nsv819627 9 137334028 137335907 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419351 S 2 0 1 "" AK1 nsv825161 9 137334159 137335183 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421896 S 31 0 1 "" NA18997 nsv415380 9 137335767 137336103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433958 M 24 "" nsv416320 9 137347763 137347822 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434898 M 24 "" dgv138n16 9 137352837 137358671 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436604,nsv435885 M 2 0 2 "" NA15510,NA18505 esv1010502 9 137353555 137359101 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565545 S 3 0 1 "" HuRef esv2611920 9 137353569 137358256 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5376076 S 1 0 1 "" NA18507 esv2180169 9 137353710 137357613 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4695806 S 1 0 1 "" NA18507 esv2451928 9 137353809 137357918 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5349770 S 1 0 1 "" NA18507 nsv511425 9 137353855 137357362 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626036 S 1 1 0 "" 1 nsv821083 9 137353872 137357550 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420832 S 1 0 1 "" NA10851 nsv825162 9 137353872 137357550 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1428372,nssv1424381,nssv1437606,nssv1425956,nssv1421898,nssv1423589,nssv1434566,nssv1426870,nssv1432237,nssv1427974,nssv1425151,nssv1439025,nssv1436014,nssv1439832,nssv1435260,nssv1433822,nssv1424052,nssv1427659 M 31 0 18 "" AK2,AK20,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18566,NA18570,NA18582,NA18942,NA18947,NA18949,NA18968,NA18973,NA18997,NA18999 esv1008608 9 137353885 137357424 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573758 S 3 0 1 "" HuRef nsv416592 9 137353885 137357424 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435170 M 24 "" esv1152809 9 137353887 137357427 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4240802 S 2 0 1 "" HuRef nsv819779 9 137353901 137357580 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419571 S 2 1 0 "" AK1 nsv442568 9 137353926 137356233 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv2421883 9 137353926 137356727 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5067170,essv5066142,essv5048955,essv5094978,essv5035926,essv5044863,essv5044218,essv5127009,essv5114673,essv5075636,essv5061580,essv5152158,essv5046510,essv5008676,essv5052131,essv5128477,essv5153658,essv5057824,essv5009746,essv5024506,essv5069991,essv5087168,essv5067506,essv5067607,essv5086835,essv5118191,essv5064421,essv5100242,essv5044907,essv5008851,essv5108271,essv5089222,essv5147796,essv5093757,essv5126221,essv5007514,essv5021301,essv5061825,essv5068413,essv5143354,essv5076844,essv5004103,essv5042413,essv5047846,essv5024307,essv5127075,essv5140255,essv5009507,essv5052178,essv5069564,essv5093054,essv5004651,essv5092363,essv5042835,essv5110665,essv5155920,essv5069302,essv5035939,essv5098014,essv5088495,essv5037380,essv5034229,essv5027800,essv5146044,essv5021844,essv5009737,essv5137131,essv5054069,essv5035026,essv5051640,essv5043837,essv5106379,essv5002119,essv5128550,essv5156338,essv5097491,essv5062849,essv5114187,essv5145794,essv5006028,essv5043641,essv5052045,essv5144783,essv5146388,essv5113766,essv5119643,essv5020926,essv5006685,essv5006127,essv5096808,essv5140243,essv5077783,essv5088370,essv5100751,essv5142640,essv5028825,essv5011613,essv5019544,essv5078035,essv5006403,essv5010949,essv5036488,essv5028135,essv5130415,essv5050449,essv5066997,essv5035283,essv5069937,essv5113804,essv5019460,essv5157090,essv5068905,essv5028254,essv5101873,essv5119050,essv5128536,essv5046275,essv5018880,essv5109015,essv5075259,essv5060673,essv5051196,essv5125798,essv5009347,essv5122296,essv5135286,essv5014401,essv5085222,essv5007697,essv5121312,essv5125804,essv5023069,essv5022894,essv5021849,essv5029741,essv5138003,essv5076637,essv5083753,essv5160958,essv5077574,essv5108806,essv5099275,essv5150562,essv5047406,essv5055310,essv5110142,essv5076071,essv5049911,essv5143957,essv5032941,essv5126517,essv5122703,essv5059078,essv5031337,essv5028305,essv5160045,essv5131538,essv5035733,essv5043219,essv5095485,essv5022890,essv5020616,essv5098220,essv5096942,essv5153533,essv5151338,essv5159174,essv5155988,essv5113358,essv5157492,essv5109148,essv5111340,essv5030865,essv5077376,essv5063032,essv5149043,essv5016611,essv5055182,essv5075579,essv5015326,essv5087097,essv5087254,essv5035984,essv5148677,essv5025468,essv5058696,essv5030192,essv5034782,essv5065510,essv5045035,essv5079659,essv5136685,essv5002780,essv5132070,essv5133863,essv5067724,essv5040529,essv5093072,essv5152429,essv5161163,essv5054687,essv5056796,essv5057751,essv5101238,essv5053254,essv5057903,essv5131058,essv5042718,essv5032360,essv5016437,essv5022759,essv5047528,essv5007585,essv5004294,essv5160528,essv5105154,essv5143788,essv5113278,essv5105559,essv5035727,essv5110677,essv5091859,essv5127078,essv5089841,essv5097679,essv5005783,essv5066332,essv5004097,essv5013532,essv5096460,essv5038631,essv5060694,essv5063125,essv5144240,essv5067767,essv5008072,essv5037845,essv5009430,essv5160290,essv5071625,essv5146871,essv5032871,essv5050819,essv5023068,essv5007368,essv5070563,essv5076630,essv5107397,essv5095870,essv5105428,essv5152789,essv5052624,essv5063765,essv5063539,essv5090593,essv5049903,essv5010283,essv5111755,essv5023802,essv5136941,essv5125139,essv5142291,essv5135066,essv5103409,essv5150263,essv5004467,essv5060735,essv5127050,essv5073455,essv5108726,essv5126591,essv5076234,essv5137448,essv5022817,essv5022393,essv5095898,essv5138473,essv5141751,essv5045998,essv5004341,essv5066754,essv5158009,essv5061781,essv5103060,essv5063510,essv5027244,essv5130681,essv5043803,essv5041574,essv5006825,essv5094724,essv5051453,essv5028689,essv5101992,essv5148549,essv5024783,essv5046992,essv5074534,essv5153802,essv5015932,essv5086238,essv5011250,essv5128762,essv5061146,essv5097103,essv5105845,essv5076458,essv5068152,essv5102980,essv5015668,essv5050287,essv5152696,essv5031762,essv5057229,essv5057877,essv5060010,essv5119106,essv5101160,essv5139752,essv5101083,essv5122272,essv5093461,essv5061623,essv5120154,essv5148521,essv5027704,essv5068665,essv5128655,essv5130143,essv5122611,essv5157615,essv5061996,essv5009980,essv5022798,essv5036637,essv5055083,essv5003026,essv5131901,essv5002952,essv5026166,essv5055855,essv5097731,essv5051741,essv5132423,essv5099489,essv5024117,essv5039622,essv5054763,essv5042477,essv5061324,essv5024222,essv5160075,essv5057174,essv5144756,essv5134080,essv5030953,essv5082613,essv5112057,essv5062383,essv5012044,essv5058623,essv5023306,essv5141233,essv5007946,essv5051307,essv5053767,essv5055989,essv5044397,essv5061252,essv5135632,essv5145230,essv5020231,essv5086290,essv5125812,essv5055413,essv5099880,essv5018353,essv5027732,essv5029905,essv5051987,essv5117494,essv5089932,essv5042957,essv5142266,essv5139120,essv5003132,essv5077102,essv5065923,essv5045308,essv5139455,essv5046177,essv5003202,essv5103628,essv5042527,essv5036258,essv5020821,essv5122672,essv5094652,essv5085556,essv5106729,essv5014456,essv5070808,essv5115382,essv5061152,essv5160787,essv5148215,essv5154319,essv5128106,essv5110544,essv5033148,essv5110026,essv5101345,essv5133177,essv5063593,essv5088600,essv5014485,essv5039040,essv5022194,essv5075642,essv5077093,essv5040958,essv5050457,essv5159489,essv5040412,essv5089377,essv5099691,essv5032756,essv5057270,essv5125593,essv5028753,essv5027674,essv5062937,essv5115271,essv5154016,essv5158787,essv5109948,essv5050102,essv5100302,essv5021742,essv5060183,essv5084085,essv5023304,essv5013936,essv5112241,essv5116913,essv5136203,essv5036633,essv5076289,essv5026865,essv5094590,essv5037789,essv5056731,essv5109760,essv5147845,essv5118570,essv5146330,essv5143885,essv5024882,essv5054006,essv5057768,essv5094634,essv5150608,essv5102120,essv5021112,essv5024443,essv5041077,essv5049289,essv5122669,essv5007193,essv5107615,essv5057788,essv5026993,essv5130840,essv5080054,essv5135260,essv5008187,essv5087985,essv5064163,essv5111651,essv5077072,essv5114547,essv5112453,essv5126907,essv5135077,essv5115803,essv5116068,essv5060475,essv5047624,essv5144087,essv5089440,essv5029134,essv5152430,essv5064006,essv5136744,essv5120534,essv5048148,essv5013060,essv5070078,essv5160727,essv5140893,essv5132336,essv5144553,essv5158276,essv5084995,essv5105876,essv5126199,essv5003679,essv5136713,essv5149577,essv5085948,essv5083025,essv5073464,essv5141051,essv5077673,essv5048289,essv5025761,essv5041360,essv5090537,essv5085636,essv5048328,essv5143228,essv5103829,essv5020526,essv5031027,essv5128213,essv5062048,essv5022985,essv5032945,essv5031053,essv5002512,essv5055955,essv5117659,essv5144505,essv5082000,essv5134400,essv5033063,essv5094364,essv5113404,essv5127401,essv5126676,essv5092256,essv5065358,essv5007348,essv5157096,essv5157009,essv5049494,essv5113077,essv5136070,essv5136355,essv5092985,essv5061800,essv5154548,essv5157662,essv5059796,essv5029681,essv5122487,essv5050370,essv5092324,essv5132836,essv5120511,essv5012636,essv5024326,essv5136700,essv5004005,essv5116140,essv5058232,essv5045800,essv5102398,essv5018337,essv5148742,essv5074156,essv5106308,essv5095210,essv5081709,essv5032866,essv5026111,essv5011473,essv5013411,essv5155696,essv5047875,essv5136377,essv5092622,essv5049470,essv5113577,essv5155892,essv5034277,essv5146768,essv5055949,essv5012125,essv5141549,essv5053417,essv5054614,essv5128603,essv5065751,essv5145447,essv5034621,essv5116465,essv5131919,essv5145659,essv5102039,essv5005432,essv5088035,essv5150474,essv5029041,essv5123469,essv5093167,essv5030191,essv5039934,essv5104856,essv5154816,essv5002621,essv5031435,essv5101611,essv5152939,essv5109428,essv5128038,essv5023688,essv5159004,essv5077755,essv5136346,essv5062075,essv5057910,essv5048222,essv5060691,essv5041381,essv5048613,essv5124208,essv5041058,essv5019214,essv5092978,essv5158696,essv5092884,essv5098557,essv5065276,essv5002092,essv5034041,essv5033562,essv5085156,essv5093627,essv5033761,essv5138318,essv5112316,essv5080439,essv5131531,essv5016163,essv5072903,essv5026545,essv5093505,essv5062206,essv5108563,essv5077814,essv5152553,essv5088392,essv5132341,essv5035679,essv5093996,essv5148067,essv5004191,essv5096859,essv5018611,essv5114060,essv5148616,essv5084303,essv5095354,essv5096498,essv5055498,essv5081390,essv5136861,essv5007187,essv5084515,essv5006112,essv5155414,essv5124800,essv5026987,essv5013538,essv5027438,essv5008934,essv5108368,essv5078682,essv5083060,essv5133366,essv5033318,essv5131884,essv5013768,essv5107080,essv5092916,essv5026453,essv5105387,essv5140900,essv5055121,essv5105363,essv5093997,essv5030710,essv5003790,essv5127271,essv5117612,essv5007382,essv5030290,essv5073132,essv5065373,essv5061936,essv5004265,essv5022307,essv5031424,essv5053721,essv5058327,essv5059963,essv5145094,essv5049547,essv5037976,essv5103109,essv5123094,essv5021294,essv5097238,essv5081168,essv5107832,essv5008393,essv5069655,essv5094355,essv5099273,essv5133515,essv5121329,essv5159984,essv5006075,essv5071262,essv5141469,essv5055907,essv5081005,essv5021284,essv5046985,essv5048410,essv5017306,essv5120166,essv5048830,essv5046339,essv5041822,essv5071928,essv5142126,essv5018411,essv5105568,essv5079765,essv5103873,essv5111911,essv5113218,essv5116743,essv5038650,essv5101702,essv5122597,essv5154960,essv5116004,essv5149524,essv5087248,essv5033617,essv5102337,essv5107565,essv5022697,essv5111129,essv5028702,essv5143730,essv5082279,essv5058269,essv5050394,essv5046151,essv5149154,essv5034428,essv5142864,essv5100348,essv5156359,essv5086977,essv5083816,essv5030776,essv5032103,essv5009295,essv5119568,essv5096613,essv5106292,essv5038343,essv5022751,essv5089348,essv5113583,essv5129321,essv5027381,essv5118630,essv5112900,essv5062392,essv5098632,essv5047980,essv5059587,essv5129079,essv5056483,essv5054953,essv5143132,essv5089658,essv5144289,essv5083663,essv5047261,essv5053309,essv5112037,essv5018195,essv5025322,essv5147198,essv5160579,essv5036101,essv5110871,essv5142981,essv5134900,essv5096481,essv5039828,essv5042146,essv5065550,essv5049481,essv5053940,essv5054846,essv5085560,essv5027603,essv5149877,essv5146915,essv5114072,essv5021589,essv5040638,essv5131888,essv5121406,essv5039532,essv5021287,essv5027514,essv5010154,essv5084723,essv5140138,essv5113202,essv5135201,essv5027013,essv5134234,essv5147885,essv5139497,essv5040973,essv5059782,essv5137381,essv5122051,essv5056183,essv5054562,essv5094607,essv5126105,essv5039960,essv5109017,essv5012660,essv5051014,essv5016481 M 1184 0 847 "" NA06985,NA06986,NA06989,NA06991,NA06994,NA06997,NA07000,NA07014,NA07022,NA07029,NA07045,NA07051,NA07056,NA07345,NA07346,NA07347,NA07349,NA07357,NA10835,NA10836,NA10837,NA10838,NA10840,NA10845,NA10850,NA10852,NA10854,NA10855,NA10856,NA10863,NA11829,NA11832,NA11840,NA11843,NA11892,NA11894,NA11918,NA11919,NA11930,NA11931,NA11992,NA11994,NA11995,NA12003,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12146,NA12156,NA12234,NA12249,NA12264,NA12272,NA12283,NA12286,NA12287,NA12335,NA12340,NA12341,NA12343,NA12344,NA12347,NA12386,NA12399,NA12400,NA12413,NA12707,NA12716,NA12739,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12761,NA12762,NA12763,NA12775,NA12778,NA12801,NA12802,NA12813,NA12815,NA12818,NA12827,NA12828,NA12829,NA12832,NA12843,NA12864,NA12865,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12891,NA12892,NA17976,NA17977,NA17979,NA17983,NA17987,NA17988,NA17997,NA17998,NA17999,NA18105,NA18107,NA18109,NA18120,NA18122,NA18124,NA18127,NA18131,NA18132,NA18133,NA18134,NA18138,NA18140,NA18141,NA18143,NA18144,NA18146,NA18147,NA18149,NA18151,NA18152,NA18153,NA18156,NA18158,NA18161,NA18162,NA18484,NA18485,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18519,NA18520,NA18524,NA18526,NA18529,NA18537,NA18543,NA18550,NA18555,NA18557,NA18558,NA18566,NA18570,NA18571,NA18576,NA18577,NA18579,NA18582,NA18593,NA18597,NA18602,NA18603,NA18608,NA18609,NA18612,NA18615,NA18616,NA18617,NA18619,NA18620,NA18621,NA18623,NA18624,NA18627,NA18631,NA18635,NA18636,NA18637,NA18639,NA18642,NA18643,NA18647,NA18670,NA18674,NA18682,NA18685,NA18689,NA18694,NA18696,NA18702,NA18704,NA18745,NA18747,NA18748,NA18852,NA18853,NA18854,NA18855,NA18857,NA18858,NA18860,NA18862,NA18863,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18875,NA18909,NA18910,NA18911,NA18912,NA18913,NA18914,NA18924,NA18933,NA18935,NA18939,NA18942,NA18943,NA18947,NA18948,NA18949,NA18953,NA18955,NA18957,NA18959,NA18962,NA18964,NA18966,NA18968,NA18970,NA18971,NA18975,NA18976,NA18979,NA18980,NA18987,NA18991,NA18994,NA18995,NA18997,NA18999,NA19001,NA19002,NA19005,NA19027,NA19028,NA19031,NA19035,NA19036,NA19038,NA19041,NA19046,NA19054,NA19055,NA19056,NA19058,NA19060,NA19063,NA19064,NA19066,NA19067,NA19068,NA19075,NA19076,NA19078,NA19079,NA19084,NA19085,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19117,NA19118,NA19119,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19141,NA19143,NA19144,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19194,NA19197,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19226,NA19235,NA19236,NA19237,NA19238,NA19239,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19310,NA19311,NA19313,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19360,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19457,NA19462,NA19463,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19474,NA19625,NA19649,NA19651,NA19652,NA19653,NA19654,NA19656,NA19657,NA19660,NA19661,NA19662,NA19663,NA19664,NA19665,NA19670,NA19678,NA19679,NA19680,NA19681,NA19682,NA19683,NA19684,NA19685,NA19686,NA19700,NA19701,NA19703,NA19704,NA19705,NA19708,NA19711,NA19712,NA19713,NA19716,NA19718,NA19719,NA19722,NA19726,NA19727,NA19746,NA19747,NA19749,NA19750,NA19751,NA19755,NA19756,NA19757,NA19760,NA19761,NA19763,NA19770,NA19771,NA19772,NA19773,NA19774,NA19775,NA19776,NA19777,NA19778,NA19779,NA19781,NA19782,NA19783,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19819,NA19834,NA19835,NA19836,NA19900,NA19901,NA19902,NA19904,NA19908,NA19909,NA19914,NA19915,NA19917,NA19918,NA19919,NA19921,NA19982,NA19983,NA20127,NA20129,NA20276,NA20279,NA20281,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20292,NA20295,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20337,NA20340,NA20341,NA20342,NA20343,NA20344,NA20345,NA20346,NA20347,NA20350,NA20356,NA20357,NA20358,NA20359,NA20360,NA20364,NA20502,NA20504,NA20508,NA20509,NA20510,NA20512,NA20515,NA20516,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20527,NA20529,NA20530,NA20531,NA20534,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20589,NA20752,NA20753,NA20754,NA20755,NA20757,NA20759,NA20765,NA20769,NA20770,NA20771,NA20773,NA20774,NA20778,NA20783,NA20785,NA20790,NA20792,NA20795,NA20796,NA20799,NA20801,NA20803,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20828,NA20845,NA20846,NA20847,NA20851,NA20852,NA20853,NA20858,NA20861,NA20862,NA20869,NA20870,NA20871,NA20872,NA20874,NA20875,NA20876,NA20879,NA20882,NA20883,NA20885,NA20887,NA20889,NA20890,NA20892,NA20894,NA20896,NA20897,NA20899,NA20900,NA20901,NA20903,NA20904,NA20907,NA20908,NA20911,NA21086,NA21088,NA21089,NA21090,NA21091,NA21092,NA21094,NA21099,NA21100,NA21102,NA21104,NA21106,NA21107,NA21108,NA21113,NA21116,NA21117,NA21118,NA21125,NA21143,NA21144,NA21297,NA21300,NA21302,NA21303,NA21307,NA21308,NA21309,NA21311,NA21313,NA21314,NA21316,NA21317,NA21318,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21356,NA21357,NA21359,NA21360,NA21362,NA21364,NA21366,NA21367,NA21368,NA21378,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21415,NA21417,NA21418,NA21420,NA21421,NA21423,NA21424,NA21425,NA21434,NA21435,NA21436,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21448,NA21451,NA21453,NA21454,NA21455,NA21457,NA21473,NA21476,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21490,NA21491,NA21493,NA21494,NA21510,NA21512,NA21514,NA21517,NA21519,NA21521,NA21522,NA21523,NA21524,NA21525,NA21526,NA21527,NA21528,NA21529,NA21573,NA21574,NA21575,NA21577,NA21578,NA21580,NA21582,NA21583,NA21587,NA21596,NA21599,NA21600,NA21601,NA21608,NA21611,NA21613,NA21614,NA21615,NA21616,NA21617,NA21632,NA21634,NA21635,NA21636,NA21647,NA21648,NA21650,NA21678,NA21682,NA21683,NA21685,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21719,NA21722,NA21733,NA21738,NA21739,NA21740,NA21741,NA21768,NA21776,NA21825,NA21826 nsv515128 9 137353968 137354688 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627088 S 1414 0 0 "" nsv825163 9 137354470 137356628 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427660 S 31 0 1 "" AK8 dgv8364n71 9 137354489 137450751 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894242,nsv894241,nsv894240 M 6533 0 3 "" IS33504,IS33684,MS13770 nsv438116 9 137361468 137365450 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470123,nssv470122 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18526,NA18999 nsv894243 9 137364670 137392424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592241 S 6533 0 1 "" IS39233 esv2594404 9 137364924 137365626 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5378975 S 1 1 0 "" NA18507 esv1183245 9 137365330 137365330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3813108 S 2 1 0 "" HuRef nsv6758 9 137370437 137391027 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10691 S 9 1 0 "" NA18956 esv2422430 9 137374403 137469432 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161525 S 181 1 0 "" ND03834 nsv509331 9 137381671 137438683 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620932,nssv623571,nssv619567 M 4 3 0 "" NA10860,NA15510,NA18994 esv987790 9 137381822 137382898 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565706 S 3 1 0 "" HuRef nsv474474 9 137381839 137381920 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557974 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv499508 9 137381839 137381920 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585463 S 9 1 0 "" esv1181542 9 137381919 137381919 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4201392 S 2 1 0 "" HuRef esv1948751 9 137429368 137429879 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4835224 S 1 0 1 "" NA18507 esv1002283 9 137446247 137448380 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565069 S 3 1 0 "" HuRef esv2086597 9 137446778 137447097 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945575 S 1 0 1 "" NA18507 dgv8365n71 9 137454076 137498823 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894244,nsv894245 M 6533 2 0 LOC100506599 IS35726,IS40883 nsv894246 9 137454076 137529561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529834 S 6533 0 1 C9orf116,KIAA0649,LOC100506599 MS10123 nsv894247 9 137465758 137577557 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587143 S 6533 1 0 C9orf116,KIAA0649,LCN1,LOC100506599,MRPS2 IS37986 esv267610 9 137474658 137476854 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518613 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12287 esv26394 9 137478114 137479065 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18138 S 451 2 4 "" NA12006,NA12156,NA12414,NA18523,NA18861,NA18916 nsv469913 9 137488982 137536072 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545942 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf116,KIAA0649,LOC100506599,MRPS2 HGDP00546 dgv8366n71 9 137494494 137585476 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894248,nsv894252 M 6533 0 3 C9orf116,KIAA0649,LCN1,LOC100506599,MRPS2,OBP2A IS37646,MS13770,MS16153 nsv894249 9 137495231 137517024 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584373 S 6533 1 0 KIAA0649,LOC100506599 IS36973 dgv8367n71 9 137495231 137645436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894250,nsv894254 M 6533 0 2 C9orf116,KIAA0649,LCN1,LOC100130954,LOC100506599,MRPS2,OBP2A,PAEP MS10311,MS17208 nsv894251 9 137500991 137529561 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1588212 S 6533 0 1 C9orf116,KIAA0649,LOC100506599 IS38176 nsv894253 9 137503754 137557651 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1549784 S 6533 0 1 C9orf116,KIAA0649,LCN1,LOC100506599,MRPS2 MS18276 nsv825164 9 137505217 137533616 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441235 S 31 1 0 C9orf116,KIAA0649,MRPS2 NA18969 nsv825166 9 137520497 137530548 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439026 S 31 1 0 C9orf116,KIAA0649 NA18973 nsv466656 9 137523034 137609556 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542147 S 1557 1 0 C9orf116,LCN1,LOC100130954,MRPS2,OBP2A,PAEP NINDS_230 esv2282625 9 137538243 137538697 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4948872 S 1 0 1 "" NA18507 nsv825167 9 137563307 137564962 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441236,nssv1439027 M 31 2 0 "" NA18969,NA18973 nsv416052 9 137580645 137580645 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434630 M 24 OBP2A esv1004958 9 137580659 137580659 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577823 S 3 1 0 OBP2A HuRef esv29917 9 137580674 137581209 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10982 S 451 1 1 OBP2A NA11894,NA11995 esv1483790 9 137580896 137580896 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699820 S 2 1 0 OBP2A HuRef nsv6759 9 137597171 137630641 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5190 S 9 1 0 LOC100130954,PAEP NA19129 dgv953n27 9 137602987 137616644 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466657,nsv466658 M 1557 0 2 LOC100130954 HGDP00666,HGDP01179 esv28539 9 137609249 137611870 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10244 S 451 0 1 LOC100130954 NA12414 esv1759388 9 137609902 137610256 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3608009 S 2 0 1 LOC100130954 HuRef nsv511409 9 137616644 137620307 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626017 S 1 0 1 LOC100130954 1 nsv894255 9 137616644 137649942 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587144 S 6533 1 0 LOC100130954 IS37986 esv2627321 9 137616971 137621260 CNV Loss McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5293463 S 1 0 1 LOC100130954 NA18507 esv2622774 9 137618247 137620332 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5204469 S 1 0 1 LOC100130954 NA18507 esv2387411 9 137618741 137620196 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4538132 S 1 0 1 LOC100130954 NA18507 nsv512127 9 137618841 137620038 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624686 S 1 0 1 "" 1 nsv821594 9 137618846 137620021 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420833 S 1 0 1 "" NA10851 nsv825168 9 137618846 137620021 CNV Gain+Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434452,nssv1439833,nssv1429986,nssv1430747,nssv1421899,nssv1438303,nssv1440502,nssv1424382,nssv1425957,nssv1431481,nssv1427985,nssv1432238,nssv1441237,nssv1439028,nssv1429239,nssv1436015,nssv1433823 M 31 10 7 "" AK12,AK14,AK16,AK18,AK20,AK4,NA18526,NA18537,NA18564,NA18566,NA18582,NA18592,NA18951,NA18968,NA18969,NA18973,NA18997 esv3708 9 137618884 137620124 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26149 S 1 0 1 Single Asian sample YH "" YH esv1009232 9 137618921 137620019 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3576958 S 3 0 1 "" HuRef dgv268n6 9 137618922 137620023 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv415542,nsv416898 M 24 "" esv8476 9 137618928 137620008 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30917 S 1 0 1 "" SJK esv991218 9 137618971 137619941 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586241 S 3 1 0 "" HuRef esv28402 9 137618971 137620021 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12583 S 451 10 0 "" NA06985,NA11931,NA11995,NA12044,NA12776,NA12828,NA18502,NA18916,NA19129,NA19225 nsv825169 9 137619032 137619941 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435261 S 31 0 1 "" NA18942 nsv825170 9 137619159 137619941 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427661 S 31 1 0 "" AK8 esv1380786 9 137624681 137624819 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002490 S 2 0 1 "" HuRef nsv416293 9 137655207 137655207 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434871 M 24 "" nsv416064 9 137655269 137655269 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434642 M 24 "" nsv522861 9 137661175 137662460 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698516 S 2026 0 1 GLT6D1 nsv466659 9 137671780 137720668 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542150 S 1557 0 1 LCN9 1780862444_A nsv6760 9 137675997 137705594 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3757 S 9 1 0 LCN9 NA12878 nsv894256 9 137676221 137768637 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1546717 S 6533 0 1 KCNT1,LCN9,SOHLH1 MS17208 nsv831756 9 137680101 137867244 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448130,nssv1448129,nssv1448126,nssv1448127 M 95 0 4 CAMSAP1,KCNT1,LCN9,SOHLH1 nsv818735 9 137686726 137743561 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415680 S 112 1 0 KCNT1,LCN9,SOHLH1 NA12248 nsv517335 9 137687275 137835056 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651759,nssv660069,nssv673575,nssv676461,nssv683832,nssv663806,nssv667907,nssv688238,nssv680028,nssv691089,nssv679747,nssv691075,nssv660316,nssv665030,nssv692235,nssv675374,nssv667874,nssv663750,nssv682102,nssv674358,nssv655127,nssv660147,nssv664623,nssv690991,nssv674669,nssv675274,nssv668966,nssv657194,nssv682616,nssv669879,nssv685858,nssv673547,nssv677347,nssv668746,nssv676901,nssv689350,nssv653351,nssv667634,nssv660223,nssv685548,nssv681013,nssv667335,nssv684587,nssv664572,nssv656930,nssv656752,nssv657675,nssv688828,nssv678158,nssv674015,nssv657698,nssv662789,nssv678115,nssv687772,nssv675246,nssv685135,nssv669167,nssv652269,nssv690229,nssv679770,nssv665700,nssv670748,nssv663768,nssv657521,nssv666271,nssv672753,nssv684267,nssv670728,nssv662742,nssv677382,nssv689692,nssv674213,nssv660661,nssv662572,nssv661262,nssv682275,nssv665787,nssv683392,nssv665853,nssv678766,nssv661214,nssv674945,nssv664769,nssv693845,nssv668502,nssv669464,nssv682147,nssv653400,nssv676028 M 2026 0 89 KCNT1,LCN9,SOHLH1 dgv8368n71 9 137692055 137835056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894262,nsv894257,nsv894261,nsv894258,nsv894260,nsv894259 M 6533 0 7 KCNT1,LCN9,SOHLH1 IS33504,IS33684,IS37172,IS39233,IS40799,MS16153,MS18276 nsv818736 9 137698704 137729959 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417708 S 112 1 0 SOHLH1 NA18999 nsv469914 9 137698704 137820722 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545950,nssv545949,nssv545952,nssv545947,nssv545945,nssv545944,nssv545948,nssv545946,nssv545953,nssv545951 M 443 0 10 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNT1,SOHLH1 HGDP00290,HGDP00313,HGDP00328,HGDP00556,HGDP00702,HGDP00704,HGDP00789,HGDP00882,HGDP00883,HGDP00960 esv2044790 9 137701970 137702417 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4927893 S 1 0 1 "" NA18507 nsv415340 9 137702155 137702210 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433918 M 24 "" esv997398 9 137702162 137702217 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575502 S 3 0 1 "" HuRef esv1094697 9 137702165 137702221 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166333 S 2 0 1 "" HuRef nsv415506 9 137702197 137702251 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434084 M 24 "" esv2148721 9 137711373 137711918 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4966801 S 1 0 1 "" NA18507 dgv8369n71 9 137716533 137835056 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894268,nsv894264,nsv894263,nsv894265,nsv894266,nsv894270,nsv894273,nsv894275 M 6533 0 11 KCNT1,SOHLH1 IS30369,IS32322,IS32737,IS33797,IS35007,IS37646,IS38403,IS40230,MS10769,MS13727,MS16315 esv991522 9 137720144 137720144 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579575 S 3 1 0 "" HuRef esv1327159 9 137720248 137720248 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3713077 S 2 1 0 "" HuRef nsv825171 9 137725280 137798693 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439030 S 31 1 0 KCNT1,SOHLH1 NA18973 nsv415465 9 137727773 137727773 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434043 M 24 SOHLH1 esv1601054 9 137727831 137727831 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4248155 S 2 1 0 SOHLH1 HuRef nsv415350 9 137727930 137727930 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv433928 M 24 SOHLH1 dgv954n27 9 137729806 137793473 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466667,nsv466666,nsv466665 M 1557 0 3 KCNT1,SOHLH1 HGDP00977,HGDP01351,NINDS_60 dgv8370n71 9 137729959 137784024 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894267,nsv894271 M 6533 0 3 KCNT1,SOHLH1 IS30197,IS33162,SP54956 nsv469915 9 137731051 137771475 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545955 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations KCNT1,SOHLH1 HGDP00462 dgv8371n71 9 137731051 137809082 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894269,nsv894272 M 6533 0 2 KCNT1,SOHLH1 IS41243,IS41410 nsv894274 9 137742049 137870884 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580867 S 6533 0 1 CAMSAP1,KCNT1 IS35484 esv1423661 9 137765144 137765144 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4179135 S 2 1 0 KCNT1 HuRef nsv894276 9 137768637 137857942 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530661 S 6533 0 1 CAMSAP1,KCNT1 MS10311 nsv825172 9 137786902 137787845 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441238 S 31 1 0 KCNT1 NA18969 esv1009202 9 137789849 137789849 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568589 S 3 1 0 KCNT1 HuRef esv1302788 9 137789962 137789962 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3936525 S 2 1 0 KCNT1 HuRef esv1005577 9 137867799 137870748 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587130 S 3 0 1 CAMSAP1 HuRef esv25183 9 137867927 137870747 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13316 S 451 0 1 CAMSAP1 NA12414 nsv831757 9 137917481 138215756 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448133,nssv1448131,nssv1448132,nssv1448137,nssv1448136,nssv1448135,nssv1448134 M 95 0 7 C9orf69,CAMSAP1,NACC2,UBAC1 dgv8372n71 9 137921337 138063601 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894277,nsv894280 M 6533 0 3 CAMSAP1,NACC2,UBAC1 IS32841,MS16153,MS18276 nsv825173 9 137923748 138510036 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441239 S 31 1 0 C9orf163,C9orf69,CAMSAP1,CARD9,DKFZP434A062,DNLZ,GPSM1,INPP5E,LHX3,NACC2,NOTCH1,PMPCA,QSOX2,SDCCAG3,SEC16A,SNAPC4,UBAC1 NA18969 nsv894278 9 137935338 138024521 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1576705 S 6533 0 1 CAMSAP1,UBAC1 IS34235 dgv8373n71 9 137935338 138165436 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894281,nsv894279 M 6533 0 2 C9orf69,CAMSAP1,NACC2,UBAC1 IS35484,MS10769 esv24094 9 137938258 137939958 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16467 S 451 0 1 CAMSAP1 NA07037 dgv8374n71 9 137969530 138069095 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894282,nsv894284,nsv894286 M 6533 0 9 NACC2,UBAC1 IS30197,IS32322,IS33162,IS33455,IS33797,IS34304,IS35007,MS10123,MS11579 dgv8375n71 9 137990431 138034221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894289,nsv894283 M 6533 0 2 UBAC1 IS33178,IS37985 nsv894285 9 137990431 138063601 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587145 S 6533 1 0 NACC2,UBAC1 IS37986 dgv8376n71 9 137990431 138095067 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894288,nsv894287,nsv894293 M 6533 0 3 NACC2,UBAC1 IS39258,IS41634,MS13770 dgv8377n71 9 138002587 138053225 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894292,nsv894291,nsv894290 M 6533 0 8 NACC2 IS31282,MS10311,MS11237,MS11306,MS13095,MS13727,MS16315,MS17208 nsv894294 9 138002587 138620438 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592243 S 6533 0 1 C9orf163,C9orf69,CARD9,DKFZP434A062,DNLZ,GPSM1,INPP5E,LHX3,MIR4673,MIR4674,NACC2,NOTCH1,PMPCA,QSOX2,SDCCAG3,SEC16A,SNAPC4 IS39233 esv4884 9 138013256 138013848 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27325 S 1 0 1 Single Asian sample YH "" YH esv989632 9 138013298 138013417 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575175 S 3 0 1 "" HuRef esv1218334 9 138013357 138013477 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4005443 S 2 0 1 "" HuRef nsv894295 9 138017087 138165436 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585909 S 6533 0 1 C9orf69,NACC2 IS37646 nsv894296 9 138020564 138059029 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509950 S 6533 0 1 NACC2 SP54956 nsv6761 9 138022974 138057600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3758 S 9 1 0 NACC2 NA12878 nsv528559 9 138024521 138029397 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705175 S 2026 0 1 "" nsv525592 9 138024521 138053225 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701734 S 2026 0 1 NACC2 nsv894297 9 138034221 138051252 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510795 S 6533 0 1 NACC2 SP54988 dgv8378n71 9 138036070 138098373 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894298,nsv894299 M 6533 0 2 NACC2 MS11726,MS17208 nsv525309 9 138063601 138069877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701416 S 2026 0 1 NACC2 dgv8379n71 9 138069095 138209534 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894300,nsv894302 M 6533 0 2 C9orf69,NACC2 IS32322,MS10311 nsv894301 9 138075291 138155232 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574598 S 6533 0 1 C9orf69,NACC2 IS33601 nsv415932 9 138076967 138076967 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434510 M 24 NACC2 nsv415943 9 138077076 138077076 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434521 M 24 NACC2 nsv469916 9 138079483 138138431 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545958,nssv545956,nssv545957 M 443 0 3 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations NACC2 HGDP00556,HGDP00657,HGDP00825 nsv509332 9 138089234 138194683 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619568 S 4 1 0 C9orf69,NACC2 NA10860 esv6079 9 138101023 138106132 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28520 S 1 0 1 NACC2 SJK dgv8380n71 9 138101543 138168838 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894303,nsv894315,nsv894307 M 6533 0 3 C9orf69,NACC2 IS33504,IS37172,SP54956 dgv8381n71 9 138104713 138190995 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894304,nsv894310,nsv894309,nsv894308 M 6533 0 4 C9orf69,NACC2 IS32737,IS33684,IS40230,MS16315 dgv8382n71 9 138104713 138249682 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894317,nsv894305,nsv894318 M 6533 0 3 C9orf69,LHX3,NACC2,QSOX2 IS30369,MS10123,SP54988 dgv8383n71 9 138104713 138523591 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894306,nsv894329 M 6533 0 2 C9orf163,C9orf69,CARD9,DKFZP434A062,DNLZ,GPSM1,INPP5E,LHX3,NACC2,NOTCH1,PMPCA,QSOX2,SDCCAG3,SEC16A,SNAPC4 MS10769,MS18276 esv2521942 9 138105466 138106249 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335371 S 1 1 0 NACC2 NA18507 dgv8384n71 9 138105689 138423122 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894312,nsv894311,nsv894321 M 6533 0 3 C9orf69,CARD9,DKFZP434A062,DNLZ,GPSM1,LHX3,NACC2,QSOX2,SDCCAG3,SNAPC4 IS32841,IS38176,MS10386 dgv8385n71 9 138105689 138799208 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894314,nsv894313,nsv894331,nsv894337,nsv894351,nsv894326 M 6533 0 6 AGPAT2,C9orf163,C9orf69,CARD9,DKFZP434A062,DNLZ,EGFL7,FAM69B,GPSM1,INPP5E,LCN10,LCN15,LCN6,LCN8,LHX3,LOC100128593,MIR126,MIR4673,MIR4674,NACC2,NOTCH1,PMPCA,QSOX2,SDCCAG3,SEC16A,SNAPC4,SNHG7,SNORA17,SNORA43 IS32737,IS33178,IS37646,IS40230,MS16153,MS17208 esv1257856 9 138106130 138106130 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242928 S 2 1 0 NACC2 HuRef nsv894316 9 138118701 138139531 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501070 S 6533 0 1 NACC2 SP51109 nsv466670 9 138125255 138185649 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542154 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations C9orf69,NACC2 HGDP00576 nsv894319 9 138133411 138374138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587146 S 6533 1 0 C9orf69,DKFZP434A062,GPSM1,LHX3,QSOX2 IS37986 nsv894320 9 138138431 138195889 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573189 S 6533 0 1 C9orf69 IS33248 nsv6762 9 138141859 138172516 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5191 S 9 1 0 C9orf69 NA19129 nsv894322 9 138148330 138338706 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1591588 S 6533 0 1 C9orf69,DKFZP434A062,LHX3,QSOX2 IS38994 esv24552 9 138149801 138151079 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14220 S 451 0 1 C9orf69 NA07037 nsv894323 9 138156147 138201295 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1533776 S 6533 0 1 "" MS11306 nsv469917 9 138185649 138229538 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545959 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LHX3 HGDP00326 nsv528394 9 138189168 138190995 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704984 S 2026 1 0 "" nsv894324 9 138192370 138249682 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584815 S 6533 0 1 LHX3,QSOX2 IS37172 dgv8386n71 9 138192370 138641922 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894336,nsv894330,nsv894325,nsv894350 M 6533 0 4 C9orf163,CARD9,DKFZP434A062,DNLZ,GPSM1,INPP5E,LHX3,MIR4673,MIR4674,NOTCH1,PMPCA,QSOX2,SDCCAG3,SEC16A,SNAPC4 IS38144,IS39258,IS39417,MS10311 nsv435886 9 138192458 138198861 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv466558 S 2 0 1 "" NA15510 nsv6763 9 138193286 138207884 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1812 S 9 0 1 "" NA18555 esv21682 9 138194019 138198664 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9875 S 451 31 0 "" NA07037,NA11894,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv987930 9 138194667 138198664 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586652 S 3 1 0 "" HuRef nsv515129 9 138194816 138197296 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628038 S 1414 0 1 "" esv2421788 9 138195889 138198544 CNV Deletion Altshuler_et_al_2010 20811451 SNP_array Affymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip essv5094516,essv5133085,essv5115352,essv5023784,essv5003013,essv5101320,essv5143616,essv5102676,essv5159609,essv5029835,essv5044869,essv5025475,essv5070931,essv5052355,essv5160215,essv5040055,essv5038730,essv5002299,essv5034318,essv5049055,essv5020203,essv5029618,essv5080831,essv5126287,essv5072724,essv5020272,essv5118388,essv5139639,essv5136187,essv5156323,essv5031024,essv5036484,essv5089066,essv5152569,essv5147460,essv5008099,essv5034263,essv5141256,essv5002460,essv5137521,essv5111024,essv5123551,essv5146414,essv5082583,essv5092257,essv5102371,essv5134982,essv5138861,essv5033439,essv5024168,essv5141095,essv5050968,essv5044311,essv5050065,essv5033985,essv5083152,essv5143439,essv5040877,essv5128101,essv5118146,essv5161109,essv5087538,essv5114825,essv5117569,essv5004190,essv5109896,essv5152570,essv5148019,essv5019066,essv5040593,essv5134038,essv5018000,essv5144354,essv5033580,essv5064524,essv5136945,essv5110229,essv5115819,essv5044895,essv5050570,essv5047466,essv5102267,essv5144135,essv5035192,essv5160624,essv5148981,essv5028324,essv5081738,essv5134302,essv5083358,essv5048418,essv5122652,essv5005906,essv5003585,essv5017811,essv5131362,essv5032988,essv5017986,essv5155601,essv5055406,essv5040402,essv5057193,essv5076589,essv5144089,essv5049061,essv5089357,essv5048914,essv5078570,essv5118516,essv5054548,essv5038640,essv5010249,essv5006919,essv5136043,essv5009257,essv5131095,essv5005408,essv5055419,essv5088191,essv5045221,essv5076333,essv5060375,essv5071337,essv5102516,essv5126880,essv5140338,essv5140850,essv5006538,essv5065613,essv5159459,essv5133081,essv5034846,essv5084661,essv5111524,essv5153073,essv5145212,essv5009302,essv5085638,essv5009197,essv5052453,essv5078594,essv5065721,essv5060473,essv5033684,essv5085254,essv5091713,essv5112237,essv5068425,essv5032449,essv5026005,essv5151844,essv5059709,essv5114617,essv5005386,essv5150493,essv5035907,essv5048117,essv5068468,essv5121816,essv5141728,essv5051261,essv5096767,essv5045644,essv5086775,essv5005008,essv5145856,essv5044312,essv5082685,essv5136930,essv5023044,essv5010017,essv5082371,essv5068451,essv5151126,essv5100067,essv5096876,essv5010741,essv5034646,essv5140144,essv5138435,essv5123805,essv5125118,essv5087215,essv5017894,essv5023856,essv5142500,essv5057090,essv5082049,essv5146126,essv5026284,essv5096664,essv5093032,essv5060576,essv5114373,essv5103355,essv5107928,essv5124821,essv5046067,essv5157874,essv5097090,essv5041922,essv5125424,essv5133236,essv5128460,essv5019201,essv5146239,essv5094463,essv5059205,essv5143203,essv5139462,essv5012869,essv5046347,essv5071847,essv5116577,essv5108931,essv5095130,essv5116373,essv5121983,essv5093601,essv5104013,essv5074768,essv5126225,essv5110241,essv5148701,essv5028587,essv5118611,essv5160841,essv5105064,essv5032197,essv5126788,essv5006312 M 1184 0 231 "" NA06985,NA06991,NA07014,NA07031,NA10852,NA10854,NA10855,NA11832,NA11840,NA12057,NA12249,NA12272,NA12383,NA12802,NA12815,NA17965,NA17967,NA17969,NA17976,NA17979,NA17980,NA17981,NA17986,NA18105,NA18107,NA18117,NA18118,NA18122,NA18132,NA18140,NA18143,NA18148,NA18150,NA18152,NA18153,NA18158,NA18161,NA18166,NA18485,NA18489,NA18497,NA18499,NA18509,NA18510,NA18511,NA18519,NA18526,NA18532,NA18545,NA18548,NA18552,NA18555,NA18561,NA18563,NA18570,NA18573,NA18582,NA18602,NA18603,NA18605,NA18608,NA18610,NA18613,NA18614,NA18616,NA18618,NA18619,NA18623,NA18624,NA18626,NA18628,NA18633,NA18634,NA18635,NA18636,NA18640,NA18641,NA18642,NA18670,NA18674,NA18682,NA18694,NA18702,NA18704,NA18745,NA18749,NA18853,NA18854,NA18862,NA18871,NA18873,NA18917,NA18930,NA18934,NA18940,NA18945,NA18948,NA18951,NA18952,NA18954,NA18955,NA18956,NA18957,NA18960,NA18964,NA18965,NA18968,NA18970,NA18972,NA18974,NA18975,NA18978,NA18981,NA18993,NA18995,NA18999,NA19005,NA19010,NA19041,NA19054,NA19056,NA19059,NA19060,NA19066,NA19067,NA19068,NA19074,NA19079,NA19084,NA19085,NA19088,NA19108,NA19109,NA19113,NA19131,NA19143,NA19160,NA19172,NA19173,NA19175,NA19176,NA19206,NA19221,NA19222,NA19223,NA19225,NA19235,NA19308,NA19309,NA19313,NA19321,NA19328,NA19332,NA19359,NA19373,NA19374,NA19381,NA19382,NA19393,NA19428,NA19445,NA19449,NA19452,NA19669,NA19681,NA19683,NA19704,NA19708,NA19712,NA19713,NA19716,NA19718,NA19720,NA19723,NA19746,NA19748,NA19750,NA19755,NA19757,NA19760,NA19761,NA19762,NA19776,NA19778,NA19780,NA19781,NA19782,NA19784,NA19788,NA19789,NA19790,NA19794,NA19795,NA19796,NA19835,NA19836,NA19901,NA19909,NA19917,NA20276,NA20277,NA20289,NA20290,NA20300,NA20340,NA20341,NA20356,NA20357,NA20358,NA20525,NA20759,NA20773,NA20819,NA20862,NA20887,NA20892,NA20897,NA20906,NA20907,NA20908,NA21103,NA21108,NA21313,NA21362,NA21417,NA21440,NA21442,NA21528,NA21587,NA21632,NA21683 dgv8387n71 9 138201295 138400587 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894334,nsv894341,nsv894328,nsv894327,nsv894335 M 6533 0 9 CARD9,DKFZP434A062,DNLZ,GPSM1,LHX3,QSOX2,SNAPC4 IS31656,IS32888,IS33455,IS33684,IS41410,MS10698,MS13095,MS13727,MS13770 esv1336142 9 138206062 138206160 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3741176 S 2 0 1 "" HuRef dgv8388n71 9 138209534 138238894 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894338,nsv894333,nsv894332,nsv894340,nsv894339 M 6533 0 6 LHX3,QSOX2 SP54043,SP54725,SP54782,SP54956,SP55021,SP56223 dgv8389n71 9 138240234 138426288 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894346,nsv894345,nsv894342,nsv894344 M 6533 0 4 CARD9,DKFZP434A062,DNLZ,GPSM1,PMPCA,QSOX2,SDCCAG3,SNAPC4 IS35007,IS35484,IS41243,SP54956 dgv8390n71 9 138240234 138545455 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894348,nsv894349,nsv894343,nsv894347 M 6533 0 4 C9orf163,CARD9,DKFZP434A062,DNLZ,GPSM1,INPP5E,MIR4673,NOTCH1,PMPCA,QSOX2,SDCCAG3,SEC16A,SNAPC4 IS32322,IS33630,IS37172,IS38538 nsv513002 9 138266125 138266450 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625659 S 1 1 0 QSOX2 1 esv993665 9 138266384 138266384 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578630 S 3 1 0 QSOX2 HuRef esv1030583 9 138266415 138266415 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3637295 S 2 1 0 QSOX2 HuRef esv1053090 9 138266436 138266436 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330973 S 2 1 0 QSOX2 HuRef nsv416548 9 138266547 138266547 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435126 M 24 QSOX2 dgv8391n71 9 138299674 138389159 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894353,nsv894352 M 6533 0 2 CARD9,DKFZP434A062,DNLZ,GPSM1 SP54672,SP55021 dgv8392n71 9 138337626 138545455 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894354,nsv894358,nsv894362 M 6533 0 3 C9orf163,CARD9,DKFZP434A062,DNLZ,GPSM1,INPP5E,MIR4673,NOTCH1,PMPCA,SDCCAG3,SEC16A,SNAPC4 IS34057,IS41634,SP54988 dgv8393n71 9 138338706 138386226 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894355,nsv894356 M 6533 0 2 CARD9,DKFZP434A062,DNLZ,GPSM1 SP54043,SP54684 nsv894357 9 138338706 138437690 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1565174 S 6533 0 1 CARD9,DKFZP434A062,DNLZ,GPSM1,PMPCA,SDCCAG3,SNAPC4 IS30369 nsv894359 9 138343192 138398994 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499277 S 6533 0 1 CARD9,DNLZ,GPSM1,SNAPC4 SP50159 nsv894360 9 138347365 138374718 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514278 S 6533 0 1 GPSM1 SP55992 nsv6764 9 138356948 138401934 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8675 S 9 0 1 CARD9,DNLZ,GPSM1,SNAPC4 NA12156 nsv509333 9 138361023 138454814 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619569 S 4 1 0 CARD9,DNLZ,GPSM1,INPP5E,PMPCA,SDCCAG3,SEC16A,SNAPC4 NA10860 esv1008862 9 138369339 138369464 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579474 S 3 0 1 GPSM1 HuRef dgv2426e1 9 138370650 138946306 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv194,essv17440 M 271 0 0 AGPAT2,C9orf163,C9orf172,C9orf86,CARD9,DNLZ,EDF1,EGFL7,FAM69B,GPSM1,INPP5E,KIAA1984,LCN10,LCN15,LCN6,LCN8,LOC100128593,LOC100131193,MAMDC4,MIR126,MIR4292,MIR4479,MIR4673,MIR4674,NOTCH1,PHPT1,PMPCA,SDCCAG3,SEC16A,SNAPC4,SNHG7,SNORA17,SNORA43,TMEM141,TRAF2 NA12043 nsv894361 9 138372889 138386226 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502230 S 6533 0 1 CARD9,DNLZ,GPSM1 SP51109 nsv469918 9 138374138 139188163 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545991,nssv545969,nssv545983,nssv545980,nssv545963,nssv545993,nssv545989,nssv545966,nssv545984,nssv545979,nssv545992,nssv545981,nssv545973,nssv545974,nssv545978,nssv545975,nssv545970,nssv545968,nssv545971,nssv545967,nssv545994,nssv545960,nssv545988,nssv545961,nssv545982,nssv545962,nssv545985,nssv545964,nssv545972,nssv545977,nssv545990,nssv545986,nssv545995 M 443 0 25 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ABCA2,AGPAT2,C8G,C9orf139,C9orf140,C9orf142,C9orf163,C9orf172,C9orf86,CARD9,CLIC3,DNLZ,DPP7,EDF1,EGFL7,ENTPD2,FAM69B,FBXW5,FUT7,GRIN1,INPP5E,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR126,MIR3621,MIR4292,MIR4479,MIR4673,MIR4674,NOTCH1,NPDC1,PHPT1,PMPCA,PTGDS,SDCCAG3,SEC16A,SNAPC4,SNHG7,SNORA17,SNORA43,TMEM141,TRAF2,UAP1L1 HGDP00288,HGDP00290,HGDP00298,HGDP00302,HGDP00313,HGDP00315,HGDP00328,HGDP00546,HGDP00556,HGDP00591,HGDP00657,HGDP00697,HGDP00789,HGDP00825,HGDP00866,HGDP00877,HGDP00881,HGDP00882,HGDP00883,HGDP00894,HGDP00951,HGDP00960,HGDP00962,HGDP01397,HGDP01398 dgv8394n71 9 138374718 138633359 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894368,nsv894363 M 6533 0 2 C9orf163,CARD9,DNLZ,INPP5E,MIR4673,MIR4674,NOTCH1,PMPCA,SDCCAG3,SEC16A,SNAPC4 IS34235,MS16315 nsv831760 9 138380703 138494631 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448138 S 95 0 1 CARD9,INPP5E,PMPCA,SDCCAG3,SEC16A,SNAPC4 nsv894364 9 138404273 138431335 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505989 S 6533 0 1 PMPCA,SDCCAG3,SNAPC4 SP54043 nsv894365 9 138404273 138470416 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511421 S 6533 0 1 INPP5E,PMPCA,SDCCAG3,SEC16A,SNAPC4 SP55021 nsv894366 9 138409646 138426288 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509954 S 6533 0 1 PMPCA,SDCCAG3,SNAPC4 SP54956 nsv894367 9 138409646 138534660 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1596375 S 6533 0 1 C9orf163,INPP5E,MIR4673,NOTCH1,PMPCA,SDCCAG3,SEC16A,SNAPC4 IS40502 nsv825174 9 138416202 138427278 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426871 S 31 1 0 PMPCA,SDCCAG3 AK6 nsv6766 9 138428488 138463149 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2823 S 9 1 0 INPP5E,PMPCA,SEC16A NA18555 dgv8395n71 9 138437690 138576033 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894370,nsv894369 M 6533 0 2 C9orf163,INPP5E,MIR4673,MIR4674,NOTCH1,PMPCA,SEC16A IS33684,MS10698 dgv8396n71 9 138443022 138716241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894371,nsv894374 M 6533 0 2 AGPAT2,C9orf163,EGFL7,INPP5E,MIR126,MIR4673,MIR4674,NOTCH1,SEC16A IS33239,IS33504 esv2426973 9 138445229 138447149 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234156 S 1 0 1 INPP5E NA18507 esv28108 9 138445303 138446248 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10641 S 451 5 1 INPP5E NA06985,NA07045,NA12156,NA12776,NA15510,NA18861 esv1287350 9 138445586 138445793 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4060330 S 2 0 1 INPP5E HuRef esv1420798 9 138445934 138446016 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142026 S 2 0 1 INPP5E HuRef dgv8397n71 9 138455420 138576033 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894372,nsv894375 M 6533 2 0 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A MS18828,MS19766 nsv894373 9 138455420 138633359 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1580870 S 6533 0 1 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A IS35484 nsv894376 9 138496247 138576033 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593579,nssv1529039 M 6533 1 1 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A IS39453,SP81431 esv30005 9 138496247 138577287 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84244 S 2 0 1 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A HuRef nsv894377 9 138496247 138603775 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564301 S 6533 0 1 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A IS30197 dgv8398n71 9 138496247 138633359 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894378,nsv894389 M 6533 2 0 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A IS34124,IS34912 nsv894379 9 138496247 138641922 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1531261,nssv1573316 M 6533 1 1 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A IS33263,MS10386 dgv8399n71 9 138496247 138654524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894388,nsv894380,nsv894381,nsv894390,nsv894391 M 6533 0 9 C9orf163,MIR4673,MIR4674,NOTCH1,SEC16A IS30781,IS31082,IS34304,IS37172,IS38293,MS11306,MS13727,MS13770,SP54956 dgv8400n71 9 138496247 138788932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894382,nsv894392,nsv894384,nsv894385,nsv894383,nsv894394 M 6533 0 6 AGPAT2,C9orf163,EGFL7,FAM69B,LCN10,LCN15,LCN6,LCN8,LOC100128593,MIR126,MIR4673,MIR4674,NOTCH1,SEC16A,SNHG7,SNORA17,SNORA43 IS32888,IS33797,IS34407,IS35007,IS40799,IS41243 nsv894386 9 138496247 138813813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1529837 S 6533 0 1 AGPAT2,C9orf163,EGFL7,FAM69B,KIAA1984,LCN10,LCN15,LCN6,LCN8,LOC100128593,MIR126,MIR4673,MIR4674,NOTCH1,SEC16A,SNHG7,SNORA17,SNORA43,TMEM141 MS10123 nsv894387 9 138496247 139643250 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1587147 S 6533 1 0 ABCA2,AGPAT2,ANAPC2,ARRDC1,C8G,C9orf139,C9orf140,C9orf142,C9orf163,C9orf167,C9orf169,C9orf172,C9orf173,C9orf37,C9orf86,CLIC3,COBRA1,DPP7,EDF1,EGFL7,EHMT1,ENTPD2,ENTPD8,EXD3,FAM166A,FAM69B,FBXW5,FUT7,GRIN1,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100129722,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR126,MIR3621,MIR4292,MIR4479,MIR4673,MIR4674,MRPL41,NDOR1,NELF,NOTCH1,NOXA1,NPDC1,NRARP,PHPT1,PNPLA7,PTGDS,RNF208,RNF224,SEC16A,SLC34A3,SNHG7,SNORA17,SNORA43,SSNA1,TMEM141,TMEM203,TPRN,TRAF2,TUBB2C,UAP1L1,WDR85,ZMYND19 IS37986 nsv522574 9 138516229 138522923 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705958 S 2026 0 1 NOTCH1 nsv8579 9 138519705 138774529 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23170 S 31 1 0 Samples from several populations that are part of the HapMap project. AGPAT2,EGFL7,FAM69B,LCN10,LCN15,LCN6,LCN8,LOC100128593,MIR126,MIR4673,MIR4674,NOTCH1,SNHG7,SNORA17,SNORA43 NA19221 nsv6767 9 138522156 138551743 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1813 S 9 1 0 MIR4673,NOTCH1 NA18555 nsv466673 9 138522780 138577327 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542155 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR4673,MIR4674,NOTCH1 HGDP00473 dgv8401n71 9 138523591 138716241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894393,nsv894397 M 6533 0 2 AGPAT2,EGFL7,MIR126,MIR4673,MIR4674,NOTCH1 IS33162,MS10769 dgv8402n71 9 138526312 138638539 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894395,nsv894396 M 6533 0 2 MIR4673,MIR4674,NOTCH1 IS38403,MS18276 nsv509334 9 138528441 138738936 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619571,nssv619570 M 4 1 0 AGPAT2,EGFL7,FAM69B,MIR126,MIR4673,MIR4674,NOTCH1,SNHG7 NA10860 nsv513003 9 138542616 138543067 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625660 S 1 1 0 NOTCH1 1 esv1395696 9 138542737 138542737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588454 S 2 1 0 NOTCH1 HuRef esv2062576 9 138547180 138547777 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4713610 S 1 0 1 NOTCH1 NA18507 esv4392 9 138547313 138547814 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26833 S 1 0 1 Single Asian sample YH NOTCH1 YH nsv416297 9 138547346 138547608 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434875 M 24 NOTCH1 esv1396142 9 138549172 138549172 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4046065 S 2 1 0 NOTCH1 HuRef esv27805 9 138549772 138550257 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20534 S 451 9 2 NOTCH1 NA11894,NA12239,NA12749,NA12776,NA15510,NA18505,NA18907,NA18916,NA19099,NA19190,NA19225 esv1303287 9 138549783 138549783 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001078 S 2 1 0 NOTCH1 HuRef esv1111338 9 138549827 138549827 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116060 S 2 1 0 NOTCH1 HuRef esv1230007 9 138549869 138549869 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3905484 S 2 1 0 NOTCH1 HuRef nsv6768 9 138552137 138584589 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6302 S 9 1 0 MIR4674,NOTCH1 NA12156 dgv8403n71 9 138577327 138641922 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894399,nsv894398,nsv894400 M 6533 0 5 "" IS30837,IS31768,IS35911,IS38254,SP55992 nsv894401 9 138577327 138654524 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534148 S 6533 0 1 "" MS11467 dgv8404n71 9 138577327 138788932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894420,nsv894421,nsv894402,nsv894419,nsv894423,nsv894428 M 6533 0 7 AGPAT2,EGFL7,FAM69B,LCN10,LCN15,LCN6,LCN8,LOC100128593,MIR126,SNHG7,SNORA17,SNORA43 IS30369,IS32322,IS34005,IS38262,IS38840,MS15199,SP50159 dgv2427e1 9 138588222 138946306 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17930,essv24716,essv19428,essv19255,essv22108,essv24532,essv21140,essv23442 M 271 0 0 AGPAT2,C9orf172,C9orf86,EDF1,EGFL7,FAM69B,KIAA1984,LCN10,LCN15,LCN6,LCN8,LOC100128593,LOC100131193,MAMDC4,MIR126,MIR4292,MIR4479,PHPT1,SNHG7,SNORA17,SNORA43,TMEM141,TRAF2 NA10838,NA10854,NA10857,NA11829,NA11840,NA12003,NA12802,NA12815 esv2473702 9 138593992 138596025 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5258848 S 1 0 1 "" NA18507 nsv512128 9 138594239 138595723 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624687 S 1 0 1 "" 1 dgv955n27 9 138597351 138690438 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466677,nsv466674,nsv466678 M 1557 0 3 AGPAT2,EGFL7,MIR126 HGDP00445,HGDP00512,NINDS_168 esv2422220 9 138598408 139364371 CNV Deletion Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161514 S 181 0 1 ABCA2,AGPAT2,ANAPC2,C8G,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf172,C9orf173,C9orf86,CLIC3,COBRA1,DPP7,EDF1,EGFL7,ENTPD2,EXD3,FAM166A,FAM69B,FBXW5,FUT7,GRIN1,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100129722,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR126,MIR3621,MIR4292,MIR4479,NDOR1,NPDC1,NRARP,PHPT1,PTGDS,RNF208,RNF224,SLC34A3,SNHG7,SNORA17,SNORA43,SSNA1,TMEM141,TMEM203,TPRN,TRAF2,TUBB2C,UAP1L1 ND01705 dgv956n27 9 138603775 138641922 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466675,nsv466676 M 1557 0 2 "" 1780862585_A,HGDP00776 dgv8405n71 9 138603775 138646823 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv894403,nsv894404,nsv894411,nsv894412 M 6533 6 17 "" IS30969,IS31656,IS31758,IS32841,IS33361,IS33857,IS34645,IS35390,IS35717,IS36170,IS37337,IS37577,IS38972,IS39258,IS40520,IS41224,IS41410,IS41818,MS11669,MS12262,MS15749,MS15835,SP54988 dgv8406n71 9 138603775 138654524 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894405,nsv894413 M 6533 0 3 "" IS33514,IS33665,MS12202 dgv8407n71 9 138603775 138716241 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894407,nsv894406,nsv894408,nsv894414,nsv894418,nsv894417,nsv894416 M 6533 0 13 AGPAT2,EGFL7,MIR126 IS31045,IS32918,IS33455,IS33601,IS33630,IS33776,IS37985,IS39417,IS39473,IS41634,MS11237,MS11579,MS11726 dgv8408n71 9 138603775 138989735 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894432,nsv894440,nsv894409,nsv894422,nsv894441 M 6533 0 5 AGPAT2,C8G,C9orf172,C9orf86,EDF1,EGFL7,FAM69B,FBXW5,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LOC100128593,LOC100131193,MAMDC4,MIR126,MIR4292,MIR4479,PHPT1,SNHG7,SNORA17,SNORA43,TMEM141,TRAF2 IS32841,IS33684,IS38176,MS10311,MS13095 nsv469919 9 138606913 138641922 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv545999,nssv545997,nssv545996 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00462,HGDP01218,HGDP01366 dgv8409n71 9 138606913 138646823 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894410,nsv894425,nsv894424,nsv894426,nsv894427 M 6533 0 7 "" IS30593,IS33605,IS34908,IS38057,IS41894,MS18848,SP55021 nsv894415 9 138606913 138695308 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573471 S 6533 1 0 AGPAT2,EGFL7,MIR126 IS33403 esv23275 9 138612551 138613081 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15865 S 451 3 0 "" NA18502,NA19099,NA19147 esv1003388 9 138612566 138613081 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586376 S 3 1 0 "" HuRef nsv415446 9 138612632 138612704 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434024 M 24 "" esv997269 9 138612940 138613037 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570065 S 3 0 1 "" HuRef nsv818737 9 138620707 138655535 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417192 S 112 0 1 "" NA18558 esv1303347 9 138622379 138622379 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145204 S 2 1 0 "" HuRef nsv894429 9 138633359 138690401 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1584231 S 6533 0 1 AGPAT2,EGFL7,MIR126 IS36910 dgv957n27 9 138633359 138740132 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466679,nsv466680 M 1557 0 2 AGPAT2,EGFL7,FAM69B,MIR126,SNHG7 1780862100_A,1780862388_A nsv524671 9 138637261 138641922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700641 S 2026 0 1 "" nsv894430 9 138641922 138716241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592244 S 6533 0 1 AGPAT2,EGFL7,MIR126 IS39233 dgv8410n71 9 138641922 138788932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894431,nsv894445 M 6533 0 2 AGPAT2,EGFL7,FAM69B,LCN10,LCN15,LCN6,LCN8,LOC100128593,MIR126,SNHG7,SNORA17,SNORA43 MS10386,MS16315 esv1255419 9 138646530 138646699 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355704 S 2 0 1 "" HuRef esv1725000 9 138646793 138646793 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4000859 S 2 1 0 "" HuRef esv1391729 9 138647452 138647452 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042451 S 2 1 0 "" HuRef nsv894433 9 138664258 138686710 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511423 S 6533 0 1 EGFL7,MIR126 SP55021 nsv894434 9 138664258 138716241 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509334 S 6533 0 1 AGPAT2,EGFL7,MIR126 SP54782 dgv8411n71 9 138664258 138754316 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894443,nsv894444,nsv894437,nsv894436,nsv894435,nsv894438,nsv894439 M 6533 0 11 AGPAT2,EGFL7,FAM69B,LCN10,MIR126,SNHG7,SNORA17,SNORA43 IS30197,IS31656,IS33248,IS33361,IS37172,IS37874,IS41410,MS10698,SP54725,SP54956,SP54988 dgv8412n71 9 138664258 139853982 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894499,nsv894442,nsv894452 M 6533 0 3 ABCA2,AGPAT2,ANAPC2,ARRDC1,C8G,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf172,C9orf173,C9orf37,C9orf86,CLIC3,COBRA1,DPP7,EDF1,EGFL7,EHMT1,ENTPD2,ENTPD8,EXD3,FAM166A,FAM69B,FBXW5,FLJ40292,FUT7,GRIN1,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100129722,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR126,MIR3621,MIR4292,MIR4479,MIR602,MRPL41,NDOR1,NELF,NOXA1,NPDC1,NRARP,PHPT1,PNPLA7,PTGDS,RNF208,RNF224,SLC34A3,SNHG7,SNORA17,SNORA43,SSNA1,TMEM141,TMEM203,TPRN,TRAF2,TUBB2C,UAP1L1,WDR85,ZMYND19 IS33504,MS13770,MS17208 esv8966 9 138670865 138671958 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31407 S 1 0 1 "" SJK esv32979 9 138680837 138688363 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93231 S 51 1 0 AGPAT2,EGFL7,MIR126 22170 nsv894446 9 138684489 138740132 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538424 S 6533 0 1 AGPAT2,EGFL7,FAM69B,MIR126,SNHG7 MS13727 nsv7436 9 138702887 138739463 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1814 S 9 0 0 FAM69B,SNHG7 NA18555 nsv825175 9 138710661 138715753 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437608 S 31 1 0 "" NA18949 nsv894447 9 138717929 138747547 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1502326 S 6533 0 1 FAM69B,SNHG7,SNORA17,SNORA43 SP51109 dgv8413n71 9 138717929 138788932 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894448,nsv894449,nsv894453 M 6533 0 5 FAM69B,LCN10,LCN15,LCN6,LCN8,LOC100128593,SNHG7,SNORA17,SNORA43 IS32737,IS34304,IS39233,MS17522,MS18276 dgv8414n71 9 138717929 138896221 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894450,nsv894457 M 6533 0 2 C9orf172,C9orf86,EDF1,FAM69B,KIAA1984,LCN10,LCN15,LCN6,LCN8,LOC100128593,LOC100131193,MAMDC4,MIR4292,PHPT1,SNHG7,SNORA17,SNORA43,TMEM141 IS33248,MS17208 dgv8415n71 9 138717929 139114886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894454,nsv894451 M 6533 0 2 ABCA2,C8G,C9orf139,C9orf140,C9orf142,C9orf172,C9orf86,CLIC3,EDF1,ENTPD2,FAM69B,FBXW5,FUT7,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100131193,LOC100289341,MAMDC4,MAN1B1,MIR4292,MIR4479,NPDC1,PHPT1,PTGDS,SNHG7,SNORA17,SNORA43,TMEM141,TRAF2,UAP1L1 IS34235,IS39417 dgv8416n71 9 138727787 139569403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894455,nsv894462,nsv894463,nsv894484,nsv894470,nsv894474,nsv894486,nsv894485,nsv894487 M 6533 0 9 ABCA2,ANAPC2,C8G,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf172,C9orf173,C9orf86,CLIC3,COBRA1,DPP7,EDF1,ENTPD2,ENTPD8,EXD3,FAM166A,FAM69B,FBXW5,FUT7,GRIN1,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100129722,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR3621,MIR4292,MIR4479,MRPL41,NDOR1,NELF,NOXA1,NPDC1,NRARP,PHPT1,PNPLA7,PTGDS,RNF208,RNF224,SLC34A3,SNHG7,SNORA17,SNORA43,SSNA1,TMEM141,TMEM203,TPRN,TRAF2,TUBB2C,UAP1L1,WDR85 IS35007,IS35484,IS37172,IS39233,MS11237,MS11306,MS16153,MS16315,MS18276 esv2420501 9 138732235 138732711 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4724185 S 1 0 1 FAM69B NA18507 esv4681 9 138732361 138732686 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27122 S 1 0 1 Single Asian sample YH FAM69B YH esv1004940 9 138732395 138732502 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585270 S 3 0 1 FAM69B HuRef esv1163941 9 138732475 138732547 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4339093 S 2 0 1 FAM69B HuRef nsv6769 9 138738740 138766447 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6303,nssv10692,nssv843,nssv5192 M 9 4 0 FAM69B,LCN10,LCN6,LOC100128593,SNHG7,SNORA17,SNORA43 NA12156,NA18956,NA19129,NA19240 nsv818738 9 138754316 139023858 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415681 S 112 1 0 ABCA2,C8G,C9orf142,C9orf172,C9orf86,CLIC3,EDF1,FBXW5,KIAA1984,LCN10,LCN12,LCN15,LCN6,LCN8,LCNL1,LOC100128593,LOC100131193,MAMDC4,MIR4292,MIR4479,PHPT1,PTGDS,TMEM141,TRAF2 NA12248 nsv466681 9 138766895 138813813 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542163 S 1557 0 1 KIAA1984,LCN15,LCN8,TMEM141 1780862197_A nsv818739 9 138768542 138788932 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417937,nssv1417948 M 112 2 0 LCN15,LCN8 NA06991,NA06993 esv1003072 9 138769979 138769979 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582233 S 3 1 0 LCN8 HuRef esv1691397 9 138770075 138770075 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014029 S 2 1 0 LCN8 HuRef nsv894456 9 138770269 138794348 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508227 S 6533 0 1 LCN15,LCN8 SP54725 nsv416534 9 138770436 138770507 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435112 M 24 LCN8 esv27969 9 138782557 138794788 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14943,esv16622,esv20285 M 451 3 2 "" NA06985,NA12004,NA12044,NA12156,NA12749 esv1520508 9 138783559 138783972 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589395 S 2 0 1 "" HuRef esv995572 9 138783940 138784736 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563537 S 3 0 1 "" HuRef nsv8581 9 138786453 138805011 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16840 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12802 dgv958n27 9 138788264 138794348 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466686,nsv466684,nsv466685,nsv466687,nsv466682 M 1557 0 5 "" HGDP00338,HGDP00710,HGDP00876,HGDP01009,HGDP01055 dgv959n27 9 138788264 138799208 CNV Loss Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis nsv466688,nsv466689 M 1557 0 2 "" HGDP00875,HGDP00967 nsv516568 9 138788932 138794348 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669230,nssv674622,nssv663165,nssv659139,nssv682720,nssv691956,nssv673839 M 2026 0 7 "" nsv523639 9 138788932 138809965 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699440 S 2026 0 1 TMEM141 dgv8417n71 9 138803045 138915325 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894471,nsv894465,nsv894464,nsv894459,nsv894458,nsv894479,nsv894466,nsv894475,nsv894472,nsv894480 M 6533 0 15 C9orf172,C9orf86,EDF1,KIAA1984,LOC100131193,MAMDC4,MIR4292,MIR4479,PHPT1,TMEM141,TRAF2 IS30369,IS32737,IS33178,IS33361,IS33514,IS34407,IS37646,IS40230,IS40799,MS10698,MS10769,MS17825,SP54725,SP54956,SP54988 dgv8418n71 9 138803045 138930416 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894460,nsv894473,nsv894481,nsv894467 M 6533 0 4 C9orf172,C9orf86,EDF1,KIAA1984,LOC100131193,MAMDC4,MIR4292,MIR4479,PHPT1,TMEM141,TRAF2 IS32322,IS33630,IS33776,IS41243 dgv8419n71 9 138803045 138980085 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894461,nsv894482,nsv894468 M 6533 0 4 C8G,C9orf172,C9orf86,EDF1,FBXW5,KIAA1984,LCN12,LOC100131193,MAMDC4,MIR4292,MIR4479,PHPT1,TMEM141,TRAF2 IS33455,IS33601,IS34304,IS41634 esv29973 9 138809965 138873931 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84212 S 2 0 1 C9orf172,C9orf86,KIAA1984,LOC100131193,MAMDC4,MIR4292,PHPT1 HuRef nsv524322 9 138809965 139496489 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700226 S 2026 0 1 ABCA2,ANAPC2,C8G,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf172,C9orf173,C9orf86,CLIC3,COBRA1,DPP7,EDF1,ENTPD2,ENTPD8,EXD3,FAM166A,FBXW5,FUT7,GRIN1,KIAA1984,LCN12,LCNL1,LOC100129722,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR3621,MIR4292,MIR4479,NDOR1,NELF,NOXA1,NPDC1,NRARP,PHPT1,PNPLA7,PTGDS,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TRAF2,TUBB2C,UAP1L1 nsv894469 9 138813813 139238269 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592813 S 6533 0 1 ABCA2,ANAPC2,C8G,C9orf139,C9orf140,C9orf142,C9orf172,C9orf86,CLIC3,DPP7,EDF1,ENTPD2,FBXW5,FUT7,GRIN1,KIAA1984,LCN12,LCNL1,LOC100131193,LOC100289341,LRRC26,MAMDC4,MAN1B1,MIR3621,MIR4292,MIR4479,NDOR1,NPDC1,PHPT1,PTGDS,RNF208,SSNA1,TMEM203,TPRN,TRAF2,UAP1L1 IS39258 nsv416390 9 138817046 138817317 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434968 M 24 KIAA1984 nsv894476 9 138817277 138842066 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501588 S 6533 0 1 C9orf86,KIAA1984,LOC100131193 SP51109 dgv8420n71 9 138817277 138883969 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894477,nsv894478 M 6533 0 2 C9orf172,C9orf86,EDF1,KIAA1984,LOC100131193,MAMDC4,MIR4292,PHPT1 SP54043,SP54672 esv998506 9 138817365 138817566 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569443 S 3 0 1 KIAA1984 HuRef esv1285258 9 138817373 138817373 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3761386 S 2 1 0 KIAA1984 HuRef esv1071938 9 138817554 138817554 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818771 S 2 1 0 KIAA1984 HuRef esv1788395 9 138817555 138817555 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182291 S 2 1 0 KIAA1984 HuRef dgv1246n67 9 138820633 138837886 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825178,nsv825177,nsv825179 M 31 3 0 C9orf86,KIAA1984,LOC100131193 AK6,NA18949,NA18969 nsv825180 9 138823237 138823991 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421900 S 31 1 0 C9orf86 NA18997 nsv416072 9 138825947 138831018 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434650 M 24 C9orf86 nsv894483 9 138829797 139082912 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1564303 S 6533 0 1 ABCA2,C8G,C9orf139,C9orf140,C9orf142,C9orf172,C9orf86,CLIC3,EDF1,ENTPD2,FBXW5,FUT7,LCN12,LCNL1,MAMDC4,MIR4292,MIR4479,NPDC1,PHPT1,PTGDS,TRAF2 IS30197 nsv894488 9 138846060 138896221 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511424 S 6533 0 1 C9orf172,C9orf86,EDF1,MAMDC4,PHPT1 SP55021 nsv894489 9 138848325 138866813 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506348 S 6533 0 1 C9orf172,C9orf86,MAMDC4,PHPT1 SP54225 dgv8421n71 9 138855173 138876391 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894492,nsv894490 M 6533 0 2 C9orf172,C9orf86,MAMDC4,PHPT1 SP51109,SP54591 nsv894491 9 138856019 138870326 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507964 S 6533 0 1 C9orf172,MAMDC4,PHPT1 SP54593 nsv8582 9 138859679 138876791 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23198 S 31 1 0 Samples from several populations that are part of the HapMap project. C9orf172,EDF1,MAMDC4,PHPT1 NA19221 dgv8422n71 9 138901259 138940677 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894493,nsv894494,nsv894496,nsv894495 M 6533 4 0 TRAF2 SP52077,SP53687,SP54381,SP54442 esv1600467 9 138912110 138912110 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4238697 S 2 1 0 TRAF2 HuRef nsv894497 9 138918638 138940677 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508628 S 6533 1 0 TRAF2 SP54620 dgv8423n71 9 138930416 139581920 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894554,nsv894523,nsv894556,nsv894562,nsv894553,nsv894522,nsv894563,nsv894498,nsv894564,nsv894501 M 6533 0 10 ABCA2,ANAPC2,C8G,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf173,CLIC3,COBRA1,DPP7,ENTPD2,ENTPD8,EXD3,FAM166A,FBXW5,FUT7,GRIN1,LCN12,LCNL1,LOC100129722,LOC100289341,LRRC26,MAN1B1,MIR3621,MRPL41,NDOR1,NELF,NOXA1,NPDC1,NRARP,PNPLA7,PTGDS,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TRAF2,TUBB2C,UAP1L1,WDR85 IS32322,IS32841,IS33239,IS33248,IS33684,IS34005,IS34235,MS10386,MS10698,MS13727 nsv894500 9 138943491 139050766 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1532437 S 6533 0 1 ABCA2,C8G,C9orf139,C9orf142,CLIC3,FBXW5,FUT7,LCN12,LCNL1,PTGDS MS10769 nsv894502 9 138943491 139606929 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1585912 S 6533 0 1 ABCA2,ANAPC2,C8G,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf173,CLIC3,COBRA1,DPP7,ENTPD2,ENTPD8,EXD3,FAM166A,FBXW5,FUT7,GRIN1,LCN12,LCNL1,LOC100129722,LOC100289341,LRRC26,MAN1B1,MIR3621,MRPL41,NDOR1,NELF,NOXA1,NPDC1,NRARP,PNPLA7,PTGDS,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1,WDR85,ZMYND19 IS37646 nsv894503 9 138950761 139107171 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510801 S 6533 0 1 ABCA2,C8G,C9orf139,C9orf140,C9orf142,CLIC3,ENTPD2,FBXW5,FUT7,LCN12,LCNL1,LOC100289341,MAN1B1,NPDC1,PTGDS,UAP1L1 SP54988 esv997310 9 138951117 138957519 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564588 S 3 0 1 FBXW5 HuRef dgv8424n71 9 138951517 138968538 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894505,nsv894504 M 6533 0 2 C8G,FBXW5,LCN12 SP54725,SP54956 nsv482133 9 138954709 138958994 CNV Gain Schuster et al 2010 20164927 BAC_aCGH,Read-depth_analysis Illumina Genome Analyzer and Roche/454 sequencer nssv558494 S 1 1 0 FBXW5 KB1 nsv894506 9 138961333 139263622 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1573317 S 6533 1 0 ABCA2,ANAPC2,C9orf139,C9orf140,C9orf142,C9orf169,CLIC3,DPP7,ENTPD2,FAM166A,FUT7,GRIN1,LCN12,LCNL1,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NPDC1,PTGDS,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1 IS33263 esv1035880 9 138974943 138974943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3663382 S 2 1 0 "" HuRef dgv8425n71 9 138980085 139114886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894507,nsv894517,nsv894515,nsv894518,nsv894549,nsv894547,nsv894516 M 6533 0 8 ABCA2,C9orf139,C9orf140,C9orf142,CLIC3,ENTPD2,FUT7,LCNL1,LOC100289341,MAN1B1,NPDC1,PTGDS,UAP1L1 IS30369,IS32737,IS34057,IS40230,IS40799,MS10311,SP54043,SP54672 dgv8426n71 9 138980452 138996292 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894509,nsv894508 M 6533 0 2 PTGDS SP56846,SP56874 nsv894510 9 138980452 138998138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508699,nssv1515739 M 6533 2 0 LCNL1,PTGDS SP54635,SP56260 dgv8427n71 9 138980452 139014555 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894512,nsv894511 M 6533 6 0 C9orf142,CLIC3,LCNL1,PTGDS SP51486,SP54792,SP55878,SP56267,SP57367,SP58007 nsv894513 9 138980452 139023858 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499258 S 6533 0 1 ABCA2,C9orf142,CLIC3,LCNL1,PTGDS SP50159 nsv894514 9 138980452 139062933 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508021 S 6533 0 1 ABCA2,C9orf139,C9orf142,CLIC3,ENTPD2,FUT7,LCNL1,NPDC1,PTGDS SP54725 dgv8428n71 9 138980452 139254939 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894519,nsv894552,nsv894520,nsv894560 M 6533 0 4 ABCA2,ANAPC2,C9orf139,C9orf140,C9orf142,C9orf169,CLIC3,DPP7,ENTPD2,FUT7,GRIN1,LCNL1,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NPDC1,PTGDS,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,UAP1L1 IS33455,IS33665,IS37985,IS38293 nsv894521 9 138980452 139347913 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509959 S 6533 0 1 ABCA2,ANAPC2,C9orf139,C9orf140,C9orf142,C9orf167,C9orf169,C9orf173,CLIC3,COBRA1,DPP7,ENTPD2,EXD3,FAM166A,FUT7,GRIN1,LCNL1,LOC100129722,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NPDC1,NRARP,PTGDS,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1 SP54956 dgv8429n71 9 138986948 138994157 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894525,nsv894524 M 6533 0 2 PTGDS SP51339,SP52946 nsv894526 9 138986948 138996950 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1518423 S 6533 0 1 PTGDS SP57553 nsv894527 9 138986948 138998138 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1503562 S 6533 1 0 LCNL1,PTGDS SP52077 dgv8430n71 9 138986948 139005641 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894533,nsv894542,nsv894528 M 6533 3 0 LCNL1,PTGDS SP50061,SP54620,SP56173 nsv894529 9 138989735 138994157 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1506917,nssv1505524,nssv1502085,nssv1507651,nssv1502618 M 6533 1 4 PTGDS SP51058,SP51302,SP53601,SP54430,SP54657 dgv8431n71 9 138989735 138995463 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894531,nsv894536,nsv894530 M 6533 0 4 PTGDS SP50046,SP52868,SP56385,SP56886 dgv8432n71 9 138989735 138998138 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894540,nsv894532 M 6533 3 0 LCNL1,PTGDS SP54381,SP54614,SP54650 dgv8433n71 9 138989735 139082912 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894548,nsv894534 M 6533 2 0 ABCA2,C9orf139,C9orf140,C9orf142,CLIC3,ENTPD2,FUT7,LCNL1,NPDC1,PTGDS IS30210,IS36183 nsv894535 9 138989911 138991869 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1513296 S 6533 0 1 PTGDS SP55717 dgv8434n71 9 138989934 138996292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894537,nsv894538 M 6533 2 0 PTGDS SP50179,SP54442 dgv8435n71 9 138990824 138995136 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894541,nsv894539 M 6533 0 2 PTGDS SP54782,SP55992 nsv894543 9 138991966 138994558 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515158 S 6533 0 1 PTGDS SP56128 dgv8436n71 9 138991966 138996292 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894544,nsv894545 M 6533 3 0 PTGDS SP54448,SP54468,SP56143 nsv894546 9 138997519 139016985 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508790 S 6533 0 1 C9orf142,CLIC3,LCNL1 SP54684 nsv894550 9 138998991 139159061 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1583645 S 6533 1 0 ABCA2,C9orf139,C9orf140,C9orf142,CLIC3,DPP7,ENTPD2,FUT7,GRIN1,LCNL1,LOC100289341,MAN1B1,NPDC1,UAP1L1 IS36559 dgv8437n71 9 138998991 139263622 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894571,nsv894561,nsv894569,nsv894551 M 6533 4 0 ABCA2,ANAPC2,C9orf139,C9orf140,C9orf142,C9orf169,CLIC3,DPP7,ENTPD2,FAM166A,FUT7,GRIN1,LCNL1,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NPDC1,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1 IS32998,IS34912,IS35581,IS38430 dgv8438n71 9 139012190 139114886 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894555,nsv894557 M 6533 0 4 ABCA2,C9orf139,C9orf140,ENTPD2,FUT7,LOC100289341,MAN1B1,NPDC1,UAP1L1 IS38144,IS38403,IS40396,SP51109 nsv825181 9 139012347 139016775 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435262 S 31 0 1 "" NA18942 nsv825182 9 139014307 139016775 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441242 S 31 1 0 "" NA18969 dgv8439n71 9 139026180 139214426 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894559,nsv894558 M 6533 0 2 ABCA2,ANAPC2,C9orf139,C9orf140,DPP7,ENTPD2,FUT7,GRIN1,LOC100289341,LRRC26,MAN1B1,MIR3621,NPDC1,SSNA1,TPRN,UAP1L1 IS34908,IS39363 nsv894565 9 139026334 139046223 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511425 S 6533 0 1 ABCA2,C9orf139,FUT7 SP55021 dgv8440n71 9 139029249 139095889 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894566,nsv894568 M 6533 0 2 ABCA2,C9orf139,C9orf140,ENTPD2,FUT7,NPDC1,UAP1L1 SP54782,SP54967 nsv894567 9 139037416 139054243 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508263 S 6533 0 1 ABCA2,C9orf139,FUT7,NPDC1 SP54591 nsv513004 9 139048287 139048686 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625661 S 1 1 0 C9orf139 1 nsv894570 9 139049256 139114886 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1551387 S 6533 0 1 C9orf139,C9orf140,ENTPD2,LOC100289341,MAN1B1,NPDC1,UAP1L1 MS18848 dgv8441n71 9 139053841 139254939 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894578,nsv894572,nsv894579,nsv894585 M 6533 0 4 ANAPC2,C9orf140,C9orf169,DPP7,ENTPD2,GRIN1,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NPDC1,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,UAP1L1 IS33514,IS33776,IS34648,MS11054 dgv8442n71 9 139053841 139363368 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894586,nsv894573,nsv894590,nsv894582 M 6533 0 4 ANAPC2,C9orf140,C9orf167,C9orf169,C9orf173,COBRA1,DPP7,ENTPD2,EXD3,FAM166A,GRIN1,LOC100129722,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NPDC1,NRARP,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1 IS40297,IS40502,MS10311,MS19630 dgv8443n71 9 139054243 139097172 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894581,nsv894574,nsv894577,nsv894580 M 6533 0 4 C9orf140,ENTPD2,NPDC1,UAP1L1 SP50159,SP54657,SP54684,SP55992 dgv8444n71 9 139054680 139077526 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894576,nsv894575 M 6533 0 2 C9orf140,ENTPD2,NPDC1 SP54593,SP55019 nsv831761 9 139063947 139180746 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448140,nssv1448147,nssv1448144,nssv1448143,nssv1448141,nssv1448142,nssv1448145,nssv1448146,nssv1448151,nssv1448149,nssv1448148,nssv1448152 M 95 0 12 C9orf140,DPP7,ENTPD2,GRIN1,LOC100289341,MAN1B1,UAP1L1 esv2520970 9 139063976 139064363 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5386806 S 1 1 0 ENTPD2 NA18507 dgv8445n71 9 139070172 139528725 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894608,nsv894606,nsv894609,nsv894628,nsv894588,nsv894583,nsv894607,nsv894610,nsv894584 M 6533 0 12 ANAPC2,C9orf140,C9orf167,C9orf169,C9orf173,COBRA1,DPP7,ENTPD8,EXD3,FAM166A,GRIN1,LOC100129722,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NELF,NOXA1,NRARP,PNPLA7,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1 IS31082,IS32737,IS32888,IS33178,IS33601,IS34304,IS38176,IS39417,IS41243,IS41634,MS10769,MS13095 dgv8446n71 9 139082912 139411529 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894587,nsv894605 M 6533 0 3 ANAPC2,C9orf140,C9orf167,C9orf169,C9orf173,COBRA1,DPP7,EXD3,FAM166A,GRIN1,LOC100129722,LOC100289341,LRRC26,MAN1B1,MIR3621,NDOR1,NRARP,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C,UAP1L1 IS32918,MS10123,MS11467 nsv894589 9 139083756 139100206 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507511,nssv1511426 M 6533 0 2 C9orf140,LOC100289341,UAP1L1 SP54725,SP55021 nsv416857 9 139084958 139090261 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435435 M 24 "" esv1002686 9 139092838 139093315 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586838 S 3 1 0 UAP1L1 HuRef nsv527575 9 139093641 139099097 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704036 S 2026 0 1 UAP1L1 nsv825183 9 139098271 139119521 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441243 S 31 1 0 LOC100289341,MAN1B1,UAP1L1 NA18969 nsv894591 9 139111927 139155021 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514693 S 6533 0 1 DPP7,GRIN1,MAN1B1 SP56047 nsv511408 9 139114886 139120393 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626016 S 1 0 1 MAN1B1 1 dgv8447n71 9 139114886 139263622 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894592,nsv894594 M 6533 0 2 ANAPC2,C9orf169,DPP7,FAM166A,GRIN1,LRRC26,MAN1B1,MIR3621,NDOR1,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS36527,SP54988 esv29243 9 139115617 139118448 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15618 S 451 11 0 MAN1B1 NA07037,NA11995,NA12044,NA12156,NA12749,NA12878,NA15510,NA18511,NA18858,NA19129,NA19225 esv994450 9 139116222 139118187 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586179 S 3 0 1 MAN1B1 HuRef nsv416525 9 139116332 139117034 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435103 M 24 MAN1B1 esv1403415 9 139116561 139116561 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3644886 S 2 1 0 MAN1B1 HuRef esv8447 9 139116686 139116815 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30888 S 1 0 1 MAN1B1 SJK nsv894593 9 139116923 139137959 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519337,nssv1507573,nssv1505992 M 6533 0 3 DPP7,MAN1B1 SP54043,SP54672,SP81010 nsv894595 9 139122810 139130305 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509607 S 6533 0 1 DPP7,MAN1B1 SP54892 dgv8448n71 9 139122810 139156850 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894596,nsv894602,nsv894601 M 6533 0 5 DPP7,GRIN1,MAN1B1 SP51109,SP54042,SP54684,SP54937,SP54967 dgv8449n71 9 139123461 139137959 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894597,nsv894599,nsv894600 M 6533 0 3 DPP7 SP54591,SP54657,SP56223 dgv8450n71 9 139123461 139353200 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894598,nsv894604,nsv894612,nsv894613 M 6533 0 8 ANAPC2,C9orf167,C9orf169,C9orf173,COBRA1,DPP7,EXD3,FAM166A,GRIN1,LOC100129722,LRRC26,MIR3621,NDOR1,NRARP,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS31090,IS35245,IS35726,IS38262,IS38840,IS40396,MS15749,SP55021 esv1004020 9 139125484 139125484 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582216 S 3 1 0 DPP7 HuRef esv1271276 9 139125568 139125568 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3691849 S 2 1 0 DPP7 HuRef nsv894603 9 139137959 139338799 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1597305,nssv1569839,nssv1590135,nssv1585256,nssv1583972 M 6533 2 3 ANAPC2,C9orf167,C9orf169,C9orf173,COBRA1,EXD3,FAM166A,GRIN1,LOC100129722,LRRC26,MIR3621,NDOR1,NRARP,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS31728,IS36752,IS37353,IS38463,IS40799 esv1945349 9 139158860 139159270 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4964812 S 1 0 1 GRIN1 NA18507 nsv415676 9 139159026 139159144 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434254 M 24 GRIN1 esv1663270 9 139159059 139159178 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4312886 S 2 0 1 GRIN1 HuRef esv1736918 9 139159326 139159497 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778757 S 2 0 1 GRIN1 HuRef nsv825184 9 139160296 139169819 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441244 S 31 1 0 GRIN1 NA18969 dgv8451n71 9 139160531 139259925 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894614,nsv894611 M 6533 0 2 ANAPC2,C9orf169,FAM166A,GRIN1,LRRC26,MIR3621,NDOR1,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C SP54043,SP54725 dgv8452n71 9 139188163 139353200 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv894615,nsv894636,nsv894616,nsv894617 M 6533 36 14 ANAPC2,C9orf167,C9orf169,C9orf173,COBRA1,EXD3,FAM166A,LOC100129722,NDOR1,NRARP,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS30222,IS30368,IS30369,IS30406,IS30580,IS31207,IS32306,IS33162,IS34458,IS34789,IS34811,IS35177,IS36196,IS36411,IS37238,IS37480,IS37969,IS38012,IS38075,IS38239,IS38270,IS38334,IS38379,IS38380,IS38403,IS38487,IS38516,IS38538,IS38651,IS38654,IS40067,IS40368,IS40828,IS41648,IS41739,IS41919,MS10400,MS10636,MS12466,MS13131,MS14296,MS15199,MS15392,MS16357,MS17522,MS20020,MS20670,MS23258,MS23582,SP81566 dgv8453n71 9 139188163 139411529 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894621,nsv894620,nsv894622,nsv894623,nsv894618,nsv894619 M 6533 14 0 ANAPC2,C9orf167,C9orf169,C9orf173,COBRA1,EXD3,FAM166A,LOC100129722,NDOR1,NRARP,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS31096,IS35682,IS38063,IS38219,IS38341,IS38670,IS41769,IS41783,IS41927,IS41982,MS13498,MS16286,MS22807,SP54798 dgv8454n71 9 139188163 139488681 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894638,nsv894626 M 6533 2 0 ANAPC2,C9orf167,C9orf169,C9orf173,COBRA1,ENTPD8,EXD3,FAM166A,LOC100129722,NDOR1,NELF,NOXA1,NRARP,PNPLA7,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS34599,IS41791 dgv8455n71 9 139188163 139502526 CNV Gain+Loss Xu_et_al_2011 21882294 SNP_array nsv894624,nsv894627,nsv894625 M 6533 6 5 ANAPC2,C9orf167,C9orf169,C9orf173,COBRA1,ENTPD8,EXD3,FAM166A,LOC100129722,NDOR1,NELF,NOXA1,NRARP,PNPLA7,RNF208,RNF224,SLC34A3,SSNA1,TMEM203,TPRN,TUBB2C IS30837,IS31837,IS34057,IS34407,IS38002,IS38271,IS38315,MS11358,MS12262,MS18185,MS23152 nsv894629 9 139205953 139221508 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514694,nssv1505865,nssv1505829 M 6533 0 3 NDOR1,TMEM203,TPRN SP54002,SP54042,SP56047 dgv8456n71 9 139205953 139247546 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894630,nsv894633,nsv894632 M 6533 0 5 C9orf169,NDOR1,RNF208,RNF224,SLC34A3,TMEM203,TPRN SP54782,SP55019,SP55056,SP56223,SP57469 nsv894631 9 139205953 139336068 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1501547 S 6533 0 1 C9orf167,C9orf169,C9orf173,COBRA1,EXD3,FAM166A,LOC100129722,NDOR1,NRARP,RNF208,RNF224,SLC34A3,TMEM203,TPRN,TUBB2C SP51109 dgv8457n71 9 139214426 139338799 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894634,nsv894635 M 6533 5 0 C9orf167,C9orf169,C9orf173,COBRA1,EXD3,FAM166A,LOC100129722,NDOR1,NRARP,RNF208,RNF224,SLC34A3,TMEM203,TPRN,TUBB2C IS30097,IS30129,IS36512,IS38594,IS40491 nsv894637 9 139214426 139411529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1593148 S 6533 0 1 C9orf167,C9orf169,C9orf173,COBRA1,EXD3,FAM166A,LOC100129722,NDOR1,NRARP,RNF208,RNF224,SLC34A3,TMEM203,TPRN,TUBB2C IS39363 nsv894639 9 139226359 139247906 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1514282 S 6533 0 1 C9orf169,NDOR1,RNF208,RNF224,SLC34A3 SP55992 nsv894640 9 139231990 139258036 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1507676 S 6533 0 1 C9orf169,FAM166A,NDOR1,RNF208,RNF224,SLC34A3,TUBB2C SP54684 nsv894641 9 139247906 139259925 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511199 S 6533 0 1 FAM166A,SLC34A3,TUBB2C SP55019 nsv894642 9 139253540 139272391 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509338 S 6533 0 1 C9orf173,COBRA1,FAM166A,LOC100129722,TUBB2C SP54782 nsv894643 9 139273672 139438579 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1586815 S 6533 0 1 C9orf167,COBRA1,EXD3,NOXA1,NRARP IS37985 dgv8458n71 9 139284197 139341403 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894644,nsv894647,nsv894648 M 6533 0 4 C9orf167,COBRA1,EXD3,NRARP SP54043,SP54725,SP54988,SP55019 nsv894645 9 139285405 139528725 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1534725 S 6533 0 1 C9orf167,COBRA1,ENTPD8,EXD3,NELF,NOXA1,NRARP,PNPLA7 MS11726 nsv894646 9 139289700 139324181 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1510514 S 6533 0 1 C9orf167,EXD3,NRARP SP54967 nsv825185 9 139296404 139317533 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426873 S 31 1 0 C9orf167,NRARP AK6 dgv1247n67 9 139300181 139301663 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv825186,nsv825188 M 31 0 3 "" AK2,AK8,NA18564 nsv894649 9 139307555 139411529 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566649 S 6533 0 1 EXD3,NRARP IS30835 dgv8459n71 9 139308912 139338799 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894650,nsv894651,nsv894652 M 6533 0 4 EXD3,NRARP SP50159,SP54593,SP54782,SP55992 nsv825189 9 139312564 139317438 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431482 S 31 1 0 NRARP AK18 nsv825190 9 139315197 139316055 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441245 S 31 1 0 NRARP NA18969 nsv8583 9 139317521 139336397 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23226,nssv20652 M 31 2 0 Samples from several populations that are part of the HapMap project. EXD3 NA18502,NA19221 dgv2428e1 9 139317605 139461572 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10983,esv207,essv5017 M 271 0 0 ENTPD8,EXD3,NOXA1 NA18576,NA19143 nsv49 9 139330610 139348466 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv49 S 1 1 0 EXD3 NA15510 nsv6770 9 139330610 139361713 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9773,nssv11207,nssv3759,nssv844,nssv8677,nssv10693,nssv1815,nssv5193 M 9 8 0 EXD3 NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 esv27346 9 139340839 139344940 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16196,esv10449,esv12409,esv21171 M 451 32 4 EXD3 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240 esv1197738 9 139342213 139342213 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3597278 S 2 1 0 EXD3 HuRef nsv416290 9 139342418 139342480 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434868 M 24 EXD3 esv1004393 9 139342960 139344060 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586272 S 3 1 0 EXD3 HuRef esv1177905 9 139343958 139344058 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4001576 S 2 0 1 EXD3 HuRef esv1174014 9 139344271 139344271 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3720647 S 2 1 0 EXD3 HuRef nsv894653 9 139347913 139463010 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1499350 S 6533 1 0 ENTPD8,EXD3,NELF,NOXA1 SP50562 esv33008 9 139350610 139360606 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98659 S 51 0 1 EXD3 21606 nsv8584 9 139355268 139358823 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv18909 S 31 1 0 Samples from several populations that are part of the HapMap project. EXD3 NA12740 nsv416338 9 139356112 139356617 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434916 M 24 EXD3 nsv416493 9 139359949 139360511 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv435071 M 24 EXD3 esv997740 9 139360797 139360797 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577678 S 3 1 0 EXD3 HuRef esv1107223 9 139360892 139360892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3681300 S 2 1 0 EXD3 HuRef esv33368 9 139362154 139366379 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100834,essv97180 M 51 2 0 EXD3 21656,22075 dgv8460n71 9 139363368 139512315 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894655,nsv894654 M 6533 0 4 ENTPD8,EXD3,NELF,NOXA1,PNPLA7 IS33797,IS38293,IS39473,IS40230 nsv8585 9 139364138 139368635 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv21803,nssv21494,nssv16870 M 31 0 3 Samples from several populations that are part of the HapMap project. EXD3 NA12802,NA18517,NA18972 esv1630433 9 139364445 139364689 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3599238 S 2 0 1 EXD3 HuRef esv1109653 9 139364766 139364871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087268 S 2 0 1 EXD3 HuRef dgv25e24 9 139367153 139367822 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750679,esv2750475,esv2750501,esv2750605,esv2750684,esv2750748,esv2750753,esv2750558 M 51 0 8 EXD3 21618,21693,21841,22011,22231,22261,22286,22298 esv2630210 9 139372813 139376436 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5253200 S 1 0 1 EXD3 NA18507 nsv512129 9 139373228 139375887 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624689 S 1 0 1 EXD3 1 esv1009301 9 139373262 139382581 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563571 S 3 0 1 EXD3 HuRef esv24763 9 139373593 139375692 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14696 S 451 7 11 EXD3 NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12287,NA12414,NA12776,NA18502,NA18505,NA18523,NA18916,NA19114,NA19147,NA19190,NA19240,NA19257 nsv894656 9 139382039 139408880 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509960 S 6533 0 1 EXD3 SP54956 esv22353 9 139392847 139393828 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11624 S 451 1 0 EXD3 NA12044 nsv894657 9 139394076 139453680 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1515550 S 6533 0 1 ENTPD8,EXD3,NOXA1 SP56223 nsv894658 9 139411981 139458734 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1511428 S 6533 0 1 ENTPD8,EXD3,NOXA1 SP55021 nsv894659 9 139419977 139477793 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1508679 S 6533 0 1 ENTPD8,EXD3,NELF,NOXA1,PNPLA7 SP54725 nsv894660 9 139421268 139531368 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530667 S 6533 0 1 ENTPD8,EXD3,NELF,NOXA1,PNPLA7 MS10311 nsv6771 9 139426943 139458939 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6304 S 9 1 0 ENTPD8,EXD3,NOXA1 NA12156 dgv8461n71 9 139436640 139486038 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894661,nsv894662 M 6533 0 2 ENTPD8,EXD3,NELF,NOXA1,PNPLA7 SP54956,SP54988 esv26196 9 139454238 139455618 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17656 S 451 0 1 ENTPD8 NA12489 nsv831762 9 139458600 139633928 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448153 S 95 0 1 ARRDC1,C9orf37,EHMT1,MRPL41,NELF,PNPLA7,WDR85,ZMYND19 nsv8586 9 139464226 139466833 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23254 S 31 1 0 Samples from several populations that are part of the HapMap project. NELF NA19221 esv24595 9 139464657 139466558 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16238 S 451 2 0 NELF NA06985,NA12044 esv1920878 9 139474185 139474659 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4672710 S 1 0 1 PNPLA7 NA18507 dgv1248n67 9 139497391 139498688 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825192,nsv825191 M 31 2 0 PNPLA7 NA18969,NA18997 esv2007027 9 139499414 139499860 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804056 S 1 0 1 PNPLA7 NA18507 nsv894663 9 139502526 139574612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1509962 S 6533 0 1 MRPL41,PNPLA7,WDR85 SP54956 nsv6772 9 139509681 139549479 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5194,nssv3760 M 9 2 0 PNPLA7 NA12878,NA19129 esv992019 9 139512320 139516885 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565516 S 3 1 0 PNPLA7 HuRef dgv1249n67 9 139527122 139528178 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825194,nsv825193 M 31 2 0 PNPLA7 NA18542,NA18969 esv1491510 9 139531545 139531613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588391 S 2 0 1 PNPLA7 HuRef nsv831763 9 139559652 139733842 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448154 S 95 0 1 ARRDC1,C9orf37,EHMT1,MRPL41,PNPLA7,WDR85,ZMYND19 nsv894664 9 139562324 139574612 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1505866 S 6533 0 1 MRPL41,PNPLA7,WDR85 SP54042 nsv512130 9 139579124 139582519 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624690 S 1 0 1 WDR85 1 esv29235 9 139579378 139582963 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15157 S 451 23 0 WDR85 NA06985,NA11894,NA11993,NA11995,NA12004,NA12239,NA12414,NA12878,NA18502,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820440 9 139579378 139583028 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420834 S 1 0 1 WDR85 NA10851 esv1095310 9 139579602 139581842 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4142518 S 2 0 1 WDR85 HuRef esv1327920 9 139582299 139582299 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4295335 S 2 1 0 WDR85 HuRef esv1128934 9 139582437 139582495 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3707811 S 2 0 1 WDR85 HuRef dgv8462n71 9 139589421 139643250 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894667,nsv894666,nsv894668,nsv894665 M 6533 0 5 ARRDC1,C9orf37,EHMT1,WDR85,ZMYND19 SP54043,SP54672,SP54725,SP54956,SP54988 nsv894669 9 139618610 139638397 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1519239,nssv1508078,nssv1510515,nssv1511201 M 6533 0 4 ARRDC1,C9orf37,EHMT1 SP54591,SP54967,SP55019,SP80988 nsv894670 9 139622916 139646260 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1500955 S 6533 0 1 ARRDC1,C9orf37,EHMT1 SP51109 dgv8463n71 9 139625297 139639475 CNV Loss Xu_et_al_2011 21882294 SNP_array nsv894673,nsv894674,nsv894675,nsv894672,nsv894671 M 6533 0 11 ARRDC1,C9orf37,EHMT1 SP53964,SP53969,SP53990,SP54173,SP54225,SP54577,SP54593,SP54750,SP55021,SP55077,SP55318 nsv894676 9 139655919 139853982 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1530668 S 6533 0 1 EHMT1,FLJ40292,MIR602 MS10311 nsv6773 9 139708035 139760367 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2824,nssv5195,nssv8678,nssv3761,nssv9476,nssv845 M 9 6 0 EHMT1 NA12156,NA12878,NA18517,NA18555,NA19129,NA19240 nsv509336 9 139713061 139749594 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623572,nssv618079,nssv619572,nssv620933 M 4 4 0 EHMT1 CHM,NA10860,NA15510,NA18994 nsv894677 9 139714736 139794909 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1543568 S 6533 0 1 EHMT1,FLJ40292 MS16153 esv27376 9 139730361 139730871 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10000 S 451 1 0 EHMT1 NA06985 esv1605095 9 139730579 139730579 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3629982 S 2 1 0 EHMT1 HuRef esv1387371 9 139735550 139735550 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083121 S 2 1 0 EHMT1 HuRef esv1724904 9 139735599 139735599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4134190 S 2 1 0 EHMT1 HuRef esv996324 9 139735627 139737668 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563681 S 3 1 0 EHMT1 HuRef nsv894678 9 139752658 140044286 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538649 S 6533 0 1 CACNA1B,EHMT1,FLJ40292,MIR602 MS13770 nsv894679 9 139759975 139830424 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1574602 S 6533 0 1 EHMT1,FLJ40292 IS33601 nsv509337 9 139771078 139808306 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619573 S 4 1 0 EHMT1,FLJ40292 NA10860 esv2312884 9 139794171 139794543 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4594428 S 1 0 1 EHMT1 NA18507 esv2598233 9 139799115 139800204 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5222822 S 1 1 0 EHMT1 NA18507 nsv6774 9 139800579 139844874 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1817 S 9 0 1 EHMT1 NA18555 esv2246828 9 139823933 139824531 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4952103 S 1 0 1 EHMT1 NA18507 dgv1250n67 9 139824742 139825459 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv825196,nsv825195 M 31 2 0 EHMT1 NA18969,NA18997 esv2517463 9 139832378 139834434 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5193354 S 1 0 1 EHMT1 NA18507 esv2298174 9 139832628 139833054 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4780748 S 1 0 1 EHMT1 NA18507 esv24617 9 139832798 139834028 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18893 S 451 0 19 EHMT1 NA12287,NA12489,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19240,NA19257 esv1512111 9 139832885 139833379 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854845 S 2 0 1 EHMT1 HuRef nsv825197 9 139843324 139878995 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441249 S 31 1 0 EHMT1,MIR602 NA18969 nsv825199 9 139849861 139850399 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426875 S 31 1 0 EHMT1 AK6 nsv509338 9 139853294 139998650 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619574,nssv623573,nssv619575,nssv620934 M 4 3 0 CACNA1B NA10860,NA15510,NA18994 nsv512131 9 139854933 139857105 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624691 S 1 0 1 "" 1 esv2532831 9 139855214 139857626 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5224599 S 1 0 1 "" NA18507 esv21669 9 139855310 139863968 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12994,esv13676,esv20461,esv14105,esv16516 M 451 30 6 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19240,NA19257 esv2098744 9 139856622 139857088 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4953292 S 1 0 1 "" NA18507 nsv6775 9 139856961 139883440 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv847 S 9 1 0 "" NA19240 nsv821113 9 139859278 139860883 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420836 S 1 0 1 "" NA10851 nsv825200 9 139882119 139887448 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441250 S 31 1 0 "" NA18969 esv2137371 9 139892303 139893431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4661905 S 1 0 1 CACNA1B NA18507 dgv48e194 9 139892408 139897213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2074260,esv2073604 M 1 0 1 CACNA1B NA18507 esv4238 9 139892447 139895772 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26679 S 1 0 1 Single Asian sample YH CACNA1B YH nsv415473 9 139892490 139893325 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434051 M 24 CACNA1B dgv121e19 9 139892491 139897040 CNV Loss Ahn et al 2009 19470904 Sequencing esv6288,esv7305 M 1 0 1 CACNA1B SJK nsv512132 9 139893383 139899270 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624692 S 1 0 1 CACNA1B 1 nsv415556 9 139893434 139897017 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434134 M 24 CACNA1B nsv819257 9 139899539 139905472 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419744 S 2 1 0 CACNA1B AK1 nsv512133 9 139903157 139905408 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv624693 S 1 0 1 CACNA1B 1 esv26628 9 139903215 139905175 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18809 S 451 29 0 CACNA1B NA11931,NA11995,NA12004,NA12006,NA12044,NA12239,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv894680 9 139921333 140098397 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1592667 S 6533 1 0 CACNA1B IS39243 nsv416156 9 139935762 139936103 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434734 M 24 CACNA1B nsv415991 9 139935812 139935868 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434569 M 24 CACNA1B esv1575931 9 139936211 139936211 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4330083 S 2 1 0 CACNA1B HuRef nsv894681 9 139936244 140058004 CNV Loss Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1552774 S 6533 0 1 CACNA1B MS19630 nsv415961 9 139936432 139936601 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv434539 M 24 CACNA1B esv2433439 9 139963060 139964013 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5216836 S 1 1 0 CACNA1B NA18507 esv2562307 9 139963096 139963395 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5341358 S 1 0 1 CACNA1B NA18507 esv2219909 9 139966804 139967180 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804561 S 1 0 1 CACNA1B NA18507 nsv466691 9 139986010 140147760 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542172 S 1557 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA1B HGDP00938 nsv469920 9 139986010 140147760 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv546000 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CACNA1B HGDP00938 nsv894682 9 139999191 140184875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1577261 S 6533 1 0 CACNA1B,TUBBP5 IS34400 nsv831764 9 140004067 140185674 CNV Loss Wong_et_al_2007 17160897 BAC_aCGH SMRT Whole Genome Tile Path BAC CGH Array nssv1448155 S 95 0 1 CACNA1B,TUBBP5 dgv2429e1 9 140005384 140273252 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12252,essv18584,essv9092,essv16878,essv15792,esv115,essv11112,essv14687,essv9377,essv10690,essv15998,essv11714,essv23949,essv12643 M 271 0 0 CACNA1B,FAM157B,TUBBP5 NA12234,NA12814,NA18500,NA18501,NA18853,NA18855,NA19101,NA19131,NA19132,NA19154,NA19159,NA19205,NA19211 esv2375692 9 140029505 140030052 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4631120 S 1 0 1 CACNA1B NA18507 nsv8587 9 140031792 140035215 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv16900,nssv18939,nssv20128,nssv20653,nssv17582,nssv18200,nssv18666,nssv18004,nssv18903,nssv21321,nssv17634 M 31 9 2 Samples from several populations that are part of the HapMap project. CACNA1B NA07029,NA07048,NA10839,NA10863,NA12740,NA12802,NA18504,NA18853,NA18860,NA18975,NA19144 esv2626823 9 140032023 140034441 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5343986 S 1 0 1 CACNA1B NA18507 esv24429 9 140032179 140034414 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17297 S 451 1 4 CACNA1B NA11995,NA12156,NA18909,NA18916,NA19190 nsv821456 9 140032179 140034414 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420837 S 1 0 1 CACNA1B NA10851 nsv433507 9 140032338 140033654 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463388 S 9 0 1 Samples from several populations that are part of the HapMap project. CACNA1B NA19240 esv1367927 9 140032768 140033878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3617592 S 2 0 1 CACNA1B HuRef nsv894683 9 140033654 140273252 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1566891 S 6533 1 0 CACNA1B,FAM157B,TUBBP5 IS30969 nsv825201 9 140040434 140056854 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1441252 S 31 1 0 CACNA1B NA18969 nsv6777 9 140091311 140113709 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1818 S 9 0 1 CACNA1B NA18555 nsv438117 9 140092954 140098397 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470125,nssv470124 M 269 0 2 Samples from several populations that are part of the HapMap project. CACNA1B NA18540,NA18960 esv29520 9 140094587 140102069 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16464 S 451 0 4 CACNA1B NA18523,NA18916,NA19190,NA19257 nsv499630 9 140095756 140101847 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586125 S 9 0 1 CACNA1B esv27764 9 140102069 140273191 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12511,esv19510,esv11933,esv18449,esv14966 M 451 15 1 CACNA1B,FAM157B,TUBBP5 NA07037,NA11931,NA11995,NA12004,NA12006,NA12749,NA18502,NA18505,NA18508,NA18858,NA18861,NA18907,NA19099,NA19108,NA19147,NA19190 nsv517336 9 140111180 140147760 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693797,nssv689444,nssv665256,nssv655178,nssv661116,nssv651760,nssv691637,nssv653378,nssv675825 M 2026 3 6 CACNA1B dgv8464n71 9 140111180 140156466 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894684,nsv894685 M 6533 2 0 CACNA1B IS37986,MS23145 nsv894686 9 140116706 140184875 CNV Gain Xu_et_al_2011 21882294 SNP_array Illumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3 nssv1538501 S 6533 1 0 CACNA1B,TUBBP5 MS13751 dgv8465n71 9 140116706 140273252 CNV Gain Xu_et_al_2011 21882294 SNP_array nsv894688,nsv894689,nsv894687,nsv894690 M 6533 20 0 CACNA1B,FAM157B,TUBBP5 IS30206,IS30725,IS30835,IS31703,IS33261,IS33553,IS33702,IS34207,IS41664,MS19483,SP51061,SP52701,SP52740,SP55498,SP55683,SP56125,SP56154,SP56833,SP56848,SP57453 dgv2430e1 9 140118679 140273252 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8870,essv24231,essv10927,essv16688,essv11289,essv8281,essv22941,essv13801,essv8136,essv15430,essv4744,essv9646,essv14281,essv10351 M 271 0 0 CACNA1B,FAM157B,TUBBP5 NA07357,NA10856,NA18506,NA18508,NA18620,NA19103,NA19141,NA19142,NA19153,NA19194,NA19203,NA19204,NA19206,NA19209 nsv438118 9 140123767 140131402 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470126 S 269 0 1 Samples from several populations that are part of the HapMap project. CACNA1B NA12814 nsv466692 9 140124766 140147760 CNV Gain Itsara et al 2009 19166990 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv542173 S 1557 1 0 CACNA1B NINDS_83 nsv8588 9 140126256 140137364 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv20682 S 31 1 0 Samples from several populations that are part of the HapMap project. CACNA1B NA18502 nsv8589 9 140138758 140148859 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17612 S 31 0 1 Samples from several populations that are part of the HapMap project. CACNA1B NA07029 esv32968 9 140139330 140152983 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98821,essv95139,essv94011,essv93654,essv95941,essv96362 M 51 0 6 "" 21606,21721,21802,21972,22127,22371 nsv442167 9 140145139 140152969 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv8590 9 140155275 140250970 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv17664,nssv17726,nssv18145,nssv18230,nssv16699,nssv18959,nssv20712,nssv18260,nssv21537,nssv19448,nssv19007,nssv18969,nssv16865,nssv21524 M 31 6 8 Samples from several populations that are part of the HapMap project. FAM157B,TUBBP5 NA10847,NA12155,NA12740,NA18502,NA18517,NA18563,NA18572,NA18853,NA18975,NA18980,NA19007,NA19132,NA19173 esv1600487 9 140158870 140158870 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3968985 S 2 1 0 "" HuRef esv1004105 9 140164659 140164720 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577098 S 3 0 1 TUBBP5 HuRef esv1773938 9 140164708 140164770 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092185 S 2 0 1 TUBBP5 HuRef esv997327 9 140189717 140189717 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577120 S 3 1 0 TUBBP5 HuRef esv1243673 9 140189793 140189793 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196614 S 2 1 0 TUBBP5 HuRef nsv442569 9 140191761 140195375 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv33178 9 140193695 140241905 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93825,essv100998,essv94681,essv101356,essv95748,essv95490,essv97410,essv95775,essv99105,essv92930,essv92830,essv96244,essv97126,essv96022,essv94983,essv98101,essv100352,essv98403,essv94246 M 51 19 0 FAM157B 21634,21693,21791,21805,21841,21847,21879,21911,21938,21939,21944,22007,22075,22127,22231,22259,22300,22352,22394 esv1009101 9 140241662 140242098 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578751 S 3 0 1 FAM157B HuRef esv24825 X 86 34769 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12292,esv10022,esv20624,esv10060,esv20632,esv19874,esv14335,esv21167,esv16949 M 451 18 18 "" NA06985,NA07037,NA07045,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv27600 X 85035 169438 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18057,esv13647,esv14144,esv11362,esv16176,esv12381,esv16802,esv15555,esv11350,esv10660,esv21180,esv15189,esv15030,esv11668,esv13753,esv10086 M 451 30 25 GTPBP6,PLCXD1 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv992481 X 98188 99895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585369 S 3 0 1 "" HuRef esv989662 X 100689 100749 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571458 S 3 0 1 "" HuRef esv1009553 X 127968 128360 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573505 S 3 0 1 "" HuRef esv1009284 X 131989 131989 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580041 S 3 1 0 "" HuRef esv1006189 X 147505 147628 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3585126 S 3 0 1 PLCXD1 HuRef esv2352842 X 163240 163999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4548609 S 1 0 1 GTPBP6 NA18507 esv2219721 X 206792 207760 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4891839 S 1 0 1 "" NA18507 esv27923 X 220174 220722 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19448 S 451 0 1 PPP2R3B NA19108 esv25834 X 222989 225109 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19740 S 451 7 4 PPP2R3B NA06985,NA11931,NA12004,NA12156,NA12828,NA12878,NA18502,NA18517,NA18523,NA18861,NA19147 dgv2431e1 X 263529 482251 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9624,essv20235,esv497,essv16981 M 271 0 0 PPP2R3B NA12144,NA19141,NA19144 nsv507940 X 278702 284702 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617960 S 4 1 0 "" CHM nsv508745 X 294076 454155 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618144,nssv623575,nssv623574 M 4 2 0 "" CHM,NA18994 esv1988789 X 309612 309983 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4767427 S 1 0 1 "" NA18507 esv25451 X 312897 313682 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19663 S 451 7 0 "" NA11993,NA12239,NA12287,NA18502,NA18517,NA18858,NA19225 esv22271 X 320389 321339 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12798 S 451 2 1 "" NA18505,NA18511,NA18861 esv2276837 X 321225 321591 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4802025 S 1 0 1 "" NA18507 esv2224934 X 323064 323489 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4954972 S 1 0 1 "" NA18507 nsv507941 X 327395 333395 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617961 S 4 1 0 "" CHM esv2375746 X 369537 370454 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4570866 S 1 0 1 "" NA18507 esv26268 X 369756 370331 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20445 S 451 0 1 "" NA19147 esv1999541 X 379858 380254 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4807569 S 1 0 1 "" NA18507 nsv469571 X 401675 573486 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649684 M 265 0 8 Samples from several populations that are part of the HapMap project. SHOX esv2175248 X 402770 403145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4705994 S 1 0 1 "" NA18507 esv2101029 X 480015 480380 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509826 S 1 0 1 "" NA18507 esv2078583 X 503575 504068 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4503106 S 1 0 1 "" NA18507 nsv507942 X 514147 520147 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623081,nssv617962 M 4 2 0 SHOX CHM,NA18994 nsv9923 X 514762 523182 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27455 S 31 0 1 Samples from several populations that are part of the HapMap project. SHOX NA18504 esv2148095 X 543888 544328 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4588668 S 1 0 1 "" NA18507 nsv9925 X 605166 608686 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28174,nssv24908,nssv23095 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA12872,NA18860 esv24981 X 605174 606262 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10461 S 451 2 4 "" NA11931,NA12414,NA18502,NA18508,NA18511,NA19240 nsv820811 X 605174 606262 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420177 S 1 1 0 "" NA10851 esv29531 X 609169 610519 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20183 S 451 1 2 "" NA07045,NA12828,NA12878 esv991234 X 609874 610185 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574175 S 3 0 1 "" HuRef esv2251914 X 651240 651737 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4803690 S 1 0 1 "" NA18507 esv2265335 X 690414 690885 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4789500 S 1 0 1 "" NA18507 esv993118 X 700604 724551 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586100 S 3 0 1 "" HuRef esv2244920 X 713582 714028 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4982228 S 1 0 1 "" NA18507 esv993305 X 729056 747922 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586377 S 3 0 1 "" HuRef esv28534 X 741704 745830 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19321 S 451 0 3 "" NA07037,NA11993,NA12489 esv29996 X 778291 2704240 CNV Loss Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84235 S 2 0 1 AKAP17A,ASMT,ASMTL,ASMTL-AS1,CD99,CD99P1,CRLF2,CSF2RA,DHRSX,IL3RA,LINC00102,MIR3690,P2RY8,SLC25A6,XG,XGPY2,ZBED1 HuRef esv25626 X 797933 800598 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15920 S 451 3 1 "" NA07037,NA12239,NA18916,NA19099 esv2086785 X 798954 799350 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4553474 S 1 0 1 "" NA18507 esv1004664 X 800335 800513 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567814 S 3 0 1 "" HuRef esv2361166 X 819379 820033 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4650491 S 1 0 1 "" NA18507 nsv511656 X 822756 828546 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626292 S 1 0 1 "" 1 esv2290678 X 822906 823372 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798923 S 1 0 1 "" NA18507 esv2038903 X 822927 824145 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4822798 S 1 0 1 "" NA18507 esv26183 X 823260 967488 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21008,esv12289,esv18859,esv19389,esv14886,esv12152,esv16237,esv10814,esv11372,esv21267 M 451 8 12 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA11995,NA12239,NA12287,NA12489,NA12776,NA12828,NA18505,NA18523,NA18861,NA18909,NA19108,NA19190 esv2047517 X 827734 828197 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv5000639 S 1 0 1 "" NA18507 esv2416727 X 829987 830999 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4616438 S 1 0 1 "" NA18507 esv2063470 X 839885 840374 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4512287 S 1 0 1 "" NA18507 esv2081897 X 877745 878120 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4945697 S 1 0 1 "" NA18507 nsv508747 X 900831 950425 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618145,nssv620936,nssv619576 M 4 3 0 "" CHM,NA10860,NA15510 esv989653 X 964408 965478 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586631 S 3 0 1 "" HuRef esv26497 X 1017582 1054126 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20572,esv17524,esv16377,esv17451 M 451 8 8 "" NA06985,NA07045,NA11993,NA12239,NA12287,NA12489,NA12776,NA18505,NA18508,NA18523,NA18907,NA18909,NA19108,NA19129,NA19190 esv1002979 X 1026768 1027328 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586123 S 3 0 1 "" HuRef nsv820850 X 1028183 1031643 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420178 S 1 0 1 "" NA10851 esv26024 X 1104138 1184033 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10591,esv19392,esv11689,esv11678,esv20990 M 451 3 6 "" NA11993,NA12489,NA12776,NA18508,NA18517,NA18523,NA18858,NA19099 esv2092725 X 1147584 1148105 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4497463 S 1 0 1 "" NA18507 nsv821296 X 1147604 1149289 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420179 S 1 0 1 "" NA10851 esv21933 X 1274754 1481987 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12119,esv17467,esv16534,esv10387,esv14132,esv13817,esv10139,esv11725,esv16136 M 451 18 14 ASMTL-AS1,CRLF2,CSF2RA,IL3RA,MIR3690,SLC25A6 NA06985,NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12239,NA12287,NA12414,NA12776,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19108,NA19114,NA19129,NA19190 esv2132726 X 1330080 1330589 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4601902 S 1 0 1 "" NA18507 esv2356718 X 1349974 1350449 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4684549 S 1 0 1 CSF2RA NA18507 esv2241453 X 1393290 1394040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4715994 S 1 0 1 "" NA18507 nsv821481 X 1412035 1413254 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420180 S 1 1 0 "" NA10851 esv2166277 X 1438961 1439409 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885053 S 1 0 1 IL3RA NA18507 nsv820760 X 1443516 1457151 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420182 S 1 0 1 IL3RA NA10851 esv2196117 X 1503716 1504148 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4876534 S 1 0 1 ASMTL NA18507 esv2246827 X 1522051 1522431 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4673083 S 1 0 1 ASMTL NA18507 esv1981196 X 1532525 1532989 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639211 S 1 0 1 ASMTL NA18507 esv2294449 X 1574260 1574755 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4698856 S 1 0 1 P2RY8 NA18507 nsv510811 X 1612802 1782683 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620032 S 4 0 1 AKAP17A,ASMT,P2RY8 NA15510 esv2304690 X 1626927 1627477 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4772281 S 1 0 1 "" NA18507 esv269685 X 1643480 1643823 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516760,essv2515301,essv2514367,essv2517205 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA11881,NA12249,NA12874,NA18970 esv2202731 X 1660796 1661325 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4830102 S 1 0 1 "" NA18507 esv2314773 X 1675390 1675721 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4663172 S 1 0 1 AKAP17A,ASMT NA18507 esv1988316 X 1688417 1689554 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587617 S 1 0 1 ASMT NA18507 esv21704 X 1688621 1712314 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17677,esv10756 M 451 3 1 ASMT NA11995,NA18505,NA19147,NA19190 esv24971 X 1715560 1721470 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15152 S 451 2 1 ASMT NA07045,NA12004,NA12749 nsv821241 X 1715560 1721470 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420183 S 1 0 1 ASMT NA10851 esv2381959 X 1715689 1716031 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4542460 S 1 0 1 ASMT NA18507 esv23748 X 1753405 1756010 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10948 S 451 0 1 "" NA19129 nsv821180 X 1774407 1778467 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420184 S 1 0 1 "" NA10851 esv25424 X 1774407 1789545 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11040,esv17761,esv16917,esv11938 M 451 12 10 "" NA07037,NA11894,NA11931,NA11993,NA12004,NA12006,NA12239,NA12287,NA12489,NA12776,NA12828,NA18502,NA18517,NA18523,NA18858,NA18909,NA18916,NA19129,NA19147,NA19190,NA19225,NA19240 nsv9926 X 1779116 1782449 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26161,nssv26473,nssv27463,nssv26808 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18504,NA19007,NA19144,NA19173 dgv2432e1 X 1781901 3204365 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv570,essv2294 M 271 0 0 ARSD,ARSE,ARSF,ARSH,CD99,CD99P1,CXorf28,DHRSX,GYG2,LINC00102,XG,XGPY2,ZBED1 NA18966 esv2280657 X 1814588 1815040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4545733 S 1 0 1 "" NA18507 esv23622 X 1842480 1844100 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14062 S 451 3 0 "" NA18502,NA19099,NA19190 nsv821343 X 1842480 1844100 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420185 S 1 0 1 "" NA10851 esv2019082 X 1851925 1852341 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4622728 S 1 0 1 "" NA18507 nsv9927 X 1870511 1875573 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25805,nssv26099 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA18853 esv28374 X 1870896 1874770 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16138 S 451 0 4 "" NA18505,NA18916,NA19114,NA19190 esv24996 X 1882965 1886692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15208 S 451 0 1 "" NA18505 nsv9928 X 1895307 1901245 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26210,nssv24933,nssv28176,nssv23327,nssv27471 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA18504,NA18572,NA18860,NA19007 esv22378 X 1895433 1900059 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20610 S 451 6 1 "" NA12239,NA18502,NA18508,NA18858,NA18916,NA19147,NA19190 nsv821085 X 1895433 1900059 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420186 S 1 0 1 "" NA10851 esv2412116 X 1898694 1899307 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4749381 S 1 0 1 "" NA18507 esv26080 X 1903984 1904609 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13610 S 451 0 1 "" NA18505 esv2363994 X 1932528 1932959 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4860544 S 1 0 1 "" NA18507 esv2036037 X 1958169 1958512 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4788496 S 1 0 1 "" NA18507 esv2151930 X 1960104 1960609 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4965203 S 1 0 1 "" NA18507 esv2187092 X 1963367 1964013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4608930 S 1 0 1 "" NA18507 esv27540 X 1966342 1967441 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14614 S 451 1 0 "" NA18511 esv1991441 X 2211783 2212207 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4725237 S 1 0 1 DHRSX NA18507 esv25220 X 2302139 2304700 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13492 S 451 0 8 DHRSX NA07037,NA11993,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828 nsv9929 X 2302310 2305684 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27479,nssv26229,nssv26819,nssv24958,nssv28178,nssv23123,nssv26487,nssv25827 M 31 8 0 Samples from several populations that are part of the HapMap project. DHRSX NA07029,NA12872,NA18504,NA18853,NA18860,NA19007,NA19144,NA19173 esv22584 X 2341747 2346269 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15898 S 451 1 0 DHRSX NA12044 esv23482 X 2375874 2409200 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17519,esv18515 M 451 0 2 DHRSX NA19129,NA19147 esv2356582 X 2392246 2392750 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4811775 S 1 0 1 DHRSX NA18507 esv2159685 X 2413641 2414041 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4963853 S 1 0 1 DHRSX NA18507 nsv9930 X 2426804 2432293 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27419 S 31 1 0 Samples from several populations that are part of the HapMap project. DHRSX,ZBED1 NA12155 esv29140 X 2429193 2430758 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20516 S 451 1 0 "" NA11993 esv2752318 X 2432308 2704240 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988506,essv6982216 M 771 1 0 CD99,CD99P1,LINC00102,XG,XGPY2 BEC_402 esv1950621 X 2447595 2448038 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740042 S 1 0 1 "" NA18507 esv21760 X 2525135 2526329 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16976 S 451 0 2 "" NA18508,NA19190 esv29994 X 2542769 2704239 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84233 S 2 1 0 CD99,CD99P1,LINC00102,XG,XGPY2 HuRef nsv508748 X 2545259 2585632 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623576,nssv620937 M 4 2 0 CD99P1 NA15510,NA18994 esv34985 X 2551655 3186492 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980174,essv6987024 M 771 1 0 ARSD,ARSE,ARSF,ARSH,CD99,CD99P1,GYG2,XG,XGPY2 NA18966 esv29626 X 2555862 2560743 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21144 S 451 1 0 CD99P1 NA06985 esv21436 X 2575454 2576289 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17610 S 451 0 4 CD99P1 NA11894,NA12239,NA12749,NA12828 esv268976 X 2702347 2702432 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513943 S 157 1 0 Samples from several populations that are part of the HapMap project. XG,XGPY2 NA19143 nsv516388 X 2710157 2787560 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679790,nssv669823,nssv667956,nssv692885,nssv670793 M 2026 5 0 GYG2,XG nsv526612 X 2710157 2857133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702932 S 2026 0 1 ARSD,GYG2,XG dgv264e55 X 2713391 2813276 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34451,esv2752319 M 771 2 0 GYG2,XG BEC_727,NA12146 essv21575 X 2713391 2832253 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARSD,GYG2,XG NA12146 essv3621 X 2713391 3186492 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. ARSD,ARSE,ARSF,ARSH,GYG2,XG NA18966 nsv510521 X 2716015 2722015 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624086,nssv621367,nssv618468,nssv622184 M 4 0 4 XG CHM,NA10860,NA15510,NA18994 esv32744 X 2759916 2776256 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv93305 S 51 0 1 GYG2 22170 esv32931 X 2825873 2846387 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101439,essv95835,essv92953,essv96201,essv93370,essv92593,essv98095 M 51 0 7 ARSD 21603,21911,21939,22007,22170,22233,22259 esv33241 X 2896098 2962203 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99993 S 51 0 1 ARSH 22086 dgv13n29 X 2938054 3122882 CNV Gain Locke et al 2006 16826518 BAC_aCGH nsv469756,nsv469843 M 265 2 0 ARSF,ARSH esv2752320 X 2961931 3163474 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980775,essv6980776,essv6985405 M 771 1 0 ARSF BEC_148 nsv6778 X 3045034 3089918 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8679 S 9 0 1 "" NA12156 esv995670 X 3070448 3071651 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587237 S 3 1 0 "" HuRef esv22477 X 3070615 3071823 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13919 S 451 0 4 "" NA07037,NA12489,NA18907,NA19099 esv267614 X 3074199 3074540 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518682,essv2514809,essv2515744,essv2513913 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA12045,NA12234,NA12815,NA19143 esv2306284 X 3093200 3093706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514700 S 1 0 1 "" NA18507 esv3885 X 3093245 3093672 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26326 S 1 0 1 Single Asian sample YH "" YH nsv520829 X 3163474 3177102 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv688784,nssv676068 M 2026 2 0 "" esv33968 X 3207134 3209426 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95828 S 51 0 1 CXorf28 21911 nsv521392 X 3218112 3223911 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698002 S 2026 0 1 "" esv32714 X 3233888 3234449 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100932 S 51 0 1 "" 21693 esv33979 X 3236333 3256727 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101432,essv100810,essv95118,essv94021,essv93089,essv101636,essv94541,essv96161,essv100053,essv93507,essv94974,essv98125,essv99277,essv97713,essv100114,essv100442,essv94196 M 51 1 16 MXRA5 21603,21656,21721,21802,21863,21909,21932,22007,22086,22128,22231,22259,22275,22278,22286,22300,22394 esv1014244 X 3253882 3253882 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4027872 S 2 1 0 MXRA5 HuRef nsv6779 X 3519061 3531930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8680 S 9 1 0 "" NA12156 nsv6780 X 3558684 3584632 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6305,nssv1819 M 9 2 0 PRKX NA12156,NA18555 nsv508749 X 3566184 3575237 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620938 S 4 1 0 PRKX NA15510 esv1734793 X 3619473 3619528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227239 S 2 0 1 PRKX HuRef nsv425475 X 3619474 3619528 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444053 M 24 PRKX nsv512666 X 3713132 3721348 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625285 S 1 0 1 "" 1 nsv820566 X 3743273 3877033 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420187 S 1 0 1 LOC389906 NA10851 esv22025 X 3744030 3867055 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19904,esv12550,esv20006,esv20609,esv17721,esv18938,esv13421,esv18031 M 451 19 11 LOC389906 NA07045,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18523,NA18909,NA18916,NA19099,NA19108,NA19147,NA19190,NA19240 esv271670 X 3889070 3889155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517146 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv274038 X 3889070 3889155 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581110 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv1543052 X 3924672 3924672 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010195 S 2 1 0 "" HuRef nsv510522 X 3971685 3977685 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624087 S 4 0 1 "" NA18994 nsv515196 X 3974693 3979296 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628375 S 1414 1 0 "" nsv442799 X 3974707 3979273 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv22068 X 3993026 4000952 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13041 S 451 0 1 "" NA18505 esv2472082 X 3995257 3995955 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5184088 S 1 1 0 "" NA18507 esv33754 X 4033374 4800687 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100648,essv100028 M 51 1 1 "" 21656,22086 nsv518203 X 4114242 4165586 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695627 S 2026 1 0 "" dgv2433e1 X 4161050 4173531 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv25048,esv1357,essv24449 M 271 0 0 "" NA12801,NA12865 esv1266698 X 4163559 4163617 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838937 S 2 0 1 "" HuRef esv26256 X 4167512 4171894 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20182,esv17224 M 451 2 2 "" NA11995,NA18907,NA19099,NA19147 nsv829356 X 4167600 4169409 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423932 S 31 0 1 "" NA18999 esv1006307 X 4167780 4169409 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586848 S 3 1 0 "" HuRef nsv513600 X 4169674 4170065 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626852 S 1 1 0 "" 1 esv2624252 X 4169945 4170175 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5261109 S 1 1 0 "" NA18507 esv1696218 X 4170040 4170040 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4014579 S 2 1 0 "" HuRef esv1058354 X 4195847 4195847 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4226096 S 2 1 0 "" HuRef nsv517587 X 4239228 4270252 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658781,nssv652500,nssv691243,nssv652445,nssv685860,nssv692140,nssv656686,nssv688277,nssv679160,nssv662227,nssv690117,nssv659476,nssv686518,nssv654459,nssv674698,nssv700239,nssv680868,nssv660705,nssv679460,nssv686285 M 2026 0 20 "" nsv818008 X 4248504 4256050 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416698 S 112 0 1 "" NA19119 nsv438119 X 4248504 4256678 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470127,nssv470128 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19119,NA19205 nsv525963 X 4289400 4316594 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702175 S 2026 1 0 "" esv1002911 X 4389956 4390007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3581304 S 3 0 1 "" HuRef esv1456668 X 4389957 4390009 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335597 S 2 0 1 "" HuRef nsv525822 X 4504656 4875818 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702009 S 2026 1 0 "" esv1343885 X 4536947 4537102 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350457 S 2 0 1 "" HuRef nsv6781 X 4591388 4625833 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3762 S 9 1 0 "" NA12878 esv1094357 X 4610062 4610129 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3693893 S 2 0 1 "" HuRef esv2538128 X 4669056 4670088 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5254870 S 1 1 0 "" NA18507 esv271579 X 4696561 4696729 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499426,essv2511730,essv2505934,essv2501426,essv2506611,essv2509500 M 157 6 0 Samples from several populations that are part of the HapMap project. "" NA12044,NA18499,NA18861,NA19093,NA19108,NA19129 dgv498n21 X 4728637 4861056 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525973,nsv527698 M 2026 2 0 "" esv1269541 X 4786804 4786866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772476 S 2 0 1 "" HuRef nsv425552 X 4792546 4792619 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444130 M 24 "" esv1742190 X 4792588 4792588 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4092562 S 2 1 0 "" HuRef esv33612 X 4800887 4810217 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101444,essv100811 M 51 0 2 "" 21603,21656 nsv513761 X 4820130 4824211 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627013 S 1 1 0 "" 1 nsv518609 X 4875818 4913071 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696056 S 2026 1 0 "" nsv528528 X 4885477 4944799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705139 S 2026 1 0 "" esv2573771 X 4913988 4915596 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178801 S 1 0 1 "" NA18507 esv2130214 X 4914530 4915219 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4902565 S 1 0 1 "" NA18507 esv5309 X 4914638 4915095 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27750 S 1 0 1 Single Asian sample YH "" YH nsv425536 X 4914708 4915022 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444114 M 24 "" esv6369 X 4914726 4915034 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28810 S 1 0 1 "" SJK esv270752 X 4926649 4926807 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504480,essv2503950,essv2511583,essv2513058 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10847,NA11993 nsv424933 X 4943259 4943259 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443511 M 24 "" nsv6782 X 4963220 4993090 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv848,nssv5197,nssv3763,nssv6306,nssv10694,nssv1820 M 9 6 0 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 esv270293 X 4963819 4964141 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2570862,essv2550486,essv2553583,essv2530466,essv2551788,essv2537111,essv2561484,essv2539425,essv2575479,essv2538580,essv2568832,essv2548048,essv2551460,essv2549050,essv2554600,essv2563223 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10847,NA11993,NA12234,NA12763,NA18486,NA18504,NA18517,NA18523,NA18912,NA19099,NA19108,NA19147,NA19210,NA19257 nsv508750 X 4975269 4997029 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619577,nssv623577,nssv620939 M 4 3 0 "" NA10860,NA15510,NA18994 nsv511079 X 4975269 4997029 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618683 S 4 0 0 "" CHM nsv475021 X 4975678 4975749 CNV Insertion Kidd et al 2010 20440878 BAC_aCGH,OEA_assembly,Read-depth_analysis Agilent Custom Human 244K CGH Array nssv557944 S 9 1 0 Samples from several populations that are part of the HapMap project. "" NA18956 nsv499382 X 4975678 4975749 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585464 S 9 1 0 "" nsv511657 X 5063926 5069384 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626293 S 1 0 1 "" 1 esv2446384 X 5064357 5067770 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5320444 S 1 0 1 "" NA18507 esv2248072 X 5065158 5067680 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4615684 S 1 0 1 "" NA18507 nsv512667 X 5065190 5067565 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625286 S 1 0 1 "" 1 esv1009295 X 5065293 5067460 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587245 S 3 1 0 "" HuRef nsv821389 X 5065293 5067476 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420188 S 1 0 1 "" NA10851 nsv829357 X 5065293 5067476 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434150,nssv1424721,nssv1437374,nssv1434849,nssv1423103 M 31 0 5 "" NA18526,NA18552,NA18570,NA18582,NA18592 nsv425425 X 5065344 5067499 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444003 M 24 "" esv1445202 X 5065347 5067503 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757635 S 2 0 1 "" HuRef esv22682 X 5065404 5067320 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17387 S 451 12 0 "" NA07045,NA11931,NA12006,NA12287,NA12749,NA12828,NA18502,NA18909,NA18916,NA19129,NA19190,NA19240 esv2752328 X 5068980 5597394 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983580,essv6989820,essv6983582,essv6983581 M 771 0 1 "" BEC_669 nsv523194 X 5134026 5160641 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698910 S 2026 1 0 "" nsv522116 X 5134026 5278438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694889 S 2026 1 0 "" esv25621 X 5169509 5174153 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13881 S 451 0 3 "" NA12006,NA12156,NA12776 nsv523195 X 5240597 5278438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698911 S 2026 1 0 "" nsv818009 X 5240597 5289429 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417768 S 112 1 0 "" NA19003 nsv526111 X 5269115 5278438 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702359 S 2026 0 1 "" esv24091 X 5372305 5373025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21304 S 451 0 1 "" NA19190 nsv522764 X 5414614 5455448 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698404 S 2026 1 0 "" esv267751 X 5443354 5443439 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519179 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11894 nsv524416 X 5464517 5495507 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700342 S 2026 1 0 "" nsv518242 X 5486848 5500890 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694062 S 2026 1 0 "" nsv522615 X 5486848 5518048 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706010 S 2026 1 0 "" nsv525871 X 5495507 5505219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702071 S 2026 0 1 "" nsv522628 X 5500890 5505219 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706026 S 2026 0 1 "" nsv510812 X 5541738 5548272 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622617 S 4 0 1 "" NA18994 dgv269n6 X 5580337 5580695 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv425230,nsv425396 M 24 "" esv1000101 X 5580341 5580684 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571335 S 3 0 1 "" HuRef esv1776717 X 5580351 5580695 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3939582 S 2 0 1 "" HuRef nsv521826 X 5597613 5607334 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694599 S 2026 0 1 "" nsv525162 X 5597613 5612110 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701236 S 2026 0 1 "" nsv425283 X 5597691 5597870 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443861 M 24 "" esv1309134 X 5597924 5598074 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3865570 S 2 0 1 "" HuRef esv1220098 X 5598445 5598445 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3698046 S 2 1 0 "" HuRef nsv425401 X 5598549 5598630 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443979 M 24 "" esv1701419 X 5598566 5598566 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3964124 S 2 1 0 "" HuRef nsv515922 X 5612110 5676329 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv693454,nssv689323,nssv671508,nssv686015,nssv670357,nssv672342,nssv691201,nssv655834,nssv665315,nssv660365,nssv667540,nssv662874,nssv658570,nssv676513,nssv656831 M 2026 15 0 "" nsv524057 X 5738176 5807884 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699923 S 2026 1 0 "" esv1698456 X 5739126 5739126 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4287543 S 2 1 0 "" HuRef nsv524221 X 5773035 5807884 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700109 S 2026 1 0 "" nsv438120 X 5774199 5793856 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470133,nssv470132,nssv470129,nssv470131 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18503,NA18504 esv269272 X 5791727 5792054 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575911,essv2571569,essv2571082,essv2545498,essv2534969,essv2552038,essv2547247,essv2569634,essv2561499,essv2523517,essv2542995,essv2540597,essv2539519,essv2535614,essv2569166,essv2575651,essv2530376,essv2545962,essv2574445,essv2536341,essv2538033,essv2533259,essv2547748 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07051,NA07347,NA11830,NA11840,NA11993,NA12003,NA12249,NA12489,NA12717,NA18520,NA18523,NA18537,NA18550,NA18552,NA18563,NA18608,NA18861,NA19099,NA19141,NA19239,NA19240 esv272766 X 5791731 5792058 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582103,essv2582433,essv2582883 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv988822 X 5834938 5835500 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587267 S 3 1 0 NLGN4X HuRef nsv522938 X 5876623 5923762 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698601 S 2026 1 0 NLGN4X nsv528749 X 5893977 5954178 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705411 S 2026 1 0 NLGN4X nsv526949 X 5893977 6094630 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703320 S 2026 1 0 NLGN4X nsv507943 X 5972318 5978318 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620459,nssv623082,nssv617963 M 4 3 0 NLGN4X CHM,NA15510,NA18994 nsv510523 X 6039248 6045248 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618469 S 4 0 1 NLGN4X CHM esv1398053 X 6089288 6089354 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3733339 S 2 0 1 NLGN4X HuRef nsv520621 X 6143124 6145980 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694391 S 2026 1 0 NLGN4X nsv513718 X 6144990 6148324 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626970 S 1 0 0 NLGN4X 1 esv8448 X 6146975 6148211 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30889 S 1 0 0 NLGN4X SJK nsv513719 X 6147170 6149808 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626971 S 1 0 0 NLGN4X 1 esv33664 X 6148253 6157490 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101429,essv94119,essv95911,essv98566,essv99851,essv97781 M 51 2 4 NLGN4X 21603,21802,21911,22085,22086,22278 nsv525039 X 6164630 6235609 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701083 S 2026 1 0 "" esv1527723 X 6169320 6169676 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3751680 S 2 0 0 "" HuRef nsv524163 X 6194334 6428059 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700042 S 2026 1 0 MIR4770 esv2422345 X 6289519 6719757 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161334 S 181 1 0 MIR4770,VCX3A ND03664 esv2422493 X 6330011 6624726 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161531 S 181 1 0 VCX3A ND02256 esv25861 X 6350765 6358422 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12890 S 451 1 0 "" NA18523 dgv265e55 X 6399443 6846383 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv35137,esv34585 M 771 2 0 VCX3A NA12057,NA18992 dgv2434e1 X 6399443 6876338 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21932,essv1665,esv1294 M 271 0 0 VCX3A NA12057,NA18992 nsv511080 X 6448953 6491683 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618684,nssv624327 M 4 0 0 VCX3A CHM,NA18994 nsv508751 X 6453426 6468060 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620940 S 4 1 0 VCX3A NA15510 nsv6783 X 6456683 6476110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8681,nssv5198,nssv2825 M 9 3 0 VCX3A NA12156,NA18555,NA19129 nsv199 X 6460342 6475413 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv199 S 1 1 0 VCX3A NA15510 dgv73n64 X 6468166 6867230 CNV Gain Wang_et_al_2007 17921354 SNP_array nsv818010,nsv818011 M 112 2 0 "" NA12057,NA18992 esv32830 X 6482097 6486202 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96210 S 51 0 1 "" 22007 esv2376148 X 6489586 6490020 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753357 S 1 0 1 "" NA18507 esv2752331 X 6492092 6662158 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983724,essv6983725 M 771 1 0 "" BEC_617 esv1237167 X 6510256 6510256 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4121193 S 2 1 0 "" HuRef nsv425458 X 6510257 6510257 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444036 M 24 "" esv1164552 X 6730928 6730991 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635788 S 2 0 1 "" HuRef esv1139137 X 6731016 6731117 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787486 S 2 0 1 "" HuRef esv2752332 X 6756224 6837695 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6984181,essv6989926,essv6984180,essv6984182 M 771 0 1 "" BEC_795 esv273382 X 7012699 7012947 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580711,essv2579405 M 7 2 0 Samples from several populations that are part of the HapMap project. HDHD1 NA19238,NA19240 nsv437197 X 7119083 7139978 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467078 S 60 0 1 Samples from several populations that are part of the HapMap project. "" NA10838 nsv9931 X 7192561 7198054 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26501 S 31 1 0 Samples from several populations that are part of the HapMap project. STS NA19173 dgv2435e1 X 7211398 7633882 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21707,esv696 M 271 0 0 STS NA12248 dgv267e55 X 7353944 7468596 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752333,esv34462 M 771 0 2 "" BEC_341,NA12248 nsv438121 X 7359520 7527325 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470136,nssv470135,nssv470134 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10854,NA12248 essv18819 X 7361395 7506168 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12248 nsv818012 X 7362941 7527325 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415727 S 112 0 1 "" NA12248 esv2422194 X 7409834 7962862 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161344 S 181 1 0 PNPLA4,VCX ND04296 esv260036 X 7430824 7431457 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395358,essv2396360 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18916,NA19138 esv270265 X 7502410 7505301 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493241,essv2501268,essv2497542 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA19093,NA19147 nsv6784 X 7514765 7547109 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1821 S 9 1 0 "" NA18555 esv23227 X 7632203 7633589 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11259 S 451 0 1 "" NA12749 dgv499n21 X 7705276 8311676 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518551,nsv518656 M 2026 2 0 MIR651,PNPLA4,VCX,VCX2 nsv6785 X 7736756 7770256 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8682,nssv1822 M 9 2 0 "" NA12156,NA18555 dgv1n30 X 7752613 8075453 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis nsv470338,nsv470339 M 443 2 0 MIR651,PNPLA4,VCX HGDP00462,HGDP00984 esv33658 X 7768949 7774040 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99899 S 51 0 1 VCX 22086 esv33861 X 7781716 7782047 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99947 S 51 0 1 "" 22086 nsv470340 X 7785325 8391505 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547023 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR651,PNPLA4,VCX2 HGDP01263 esv2752335 X 7790764 8397993 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986248,essv6982713,essv6982712,essv6986249,essv6982714 M 771 1 0 MIR651,PNPLA4,VCX2,VCX3B BEC_581 nsv6786 X 7814199 7844182 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1825 S 9 1 0 PNPLA4 NA18555 esv1949224 X 7818085 7818634 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4847063 S 1 0 1 "" NA18507 nsv424906 X 7818290 7818420 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443484 M 24 "" esv2752336 X 7832903 7991304 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989229,essv6987933,essv6981261,essv6981262 M 771 0 1 PNPLA4 BEC_374 nsv818013 X 7970400 8095053 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417766 S 112 1 0 MIR651 NA18992 dgv2436e1 X 7980438 8051924 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1686,esv1317 M 271 0 0 "" NA18992 nsv524164 X 8015498 8397993 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700043 S 2026 1 0 MIR651,VCX2,VCX3B nsv528203 X 8035942 8134126 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704764 S 2026 1 0 MIR651,VCX2 nsv511081 X 8075732 8108114 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618685 S 4 0 0 VCX2 CHM nsv6788 X 8094964 8115110 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1826 S 9 1 0 VCX2 NA18555 nsv508752 X 8095089 8109092 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620941,nssv623578 M 4 2 0 VCX2 NA15510,NA18994 esv25320 X 8131057 8139543 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12436 S 451 0 1 "" NA19190 nsv438122 X 8132307 8138688 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470137 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18856 nsv516574 X 8132359 8138688 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv654599,nssv684707,nssv680075,nssv669264,nssv656819 M 2026 0 5 "" nsv818014 X 8132359 8138688 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416421 S 112 0 1 "" NA18856 nsv516754 X 8171611 8354253 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661055,nssv678902,nssv670641 M 2026 3 0 "" esv1414358 X 8208712 8208712 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603212 S 2 1 0 "" HuRef esv2752338 X 8229405 8353904 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982244,essv6986116 M 771 1 0 "" BEC_405 nsv518966 X 8316263 8381675 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696435 S 2026 1 0 "" esv2752339 X 8326726 8838134 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983508,essv6983506,essv6983507,essv6983509,essv6988681 M 771 1 0 FAM9A,KAL1,VCX3B BEC_662 nsv520519 X 8357901 8391505 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671992,nssv685344 M 2026 0 2 "" nsv518704 X 8397993 8642950 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696155 S 2026 1 0 KAL1 esv28971 X 8414001 8478025 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19798 S 451 1 0 KAL1 NA12156 esv991240 X 8417605 8473489 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586504 S 3 1 0 KAL1 HuRef esv1005860 X 8542922 8542922 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565896 S 3 1 0 KAL1 HuRef esv1378554 X 8542943 8542943 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321710 S 2 1 0 KAL1 HuRef nsv513762 X 8554989 8665602 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627014 S 1 1 0 KAL1 1 nsv520929 X 8561720 8642950 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679706,nssv677829 M 2026 2 0 KAL1 nsv6789 X 8627841 8641788 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8683 S 9 0 1 KAL1 NA12156 esv2645214 X 8743564 8747604 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165261 S 1 0 1 "" NA18507 esv24819 X 8746541 8748892 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19942 S 451 0 4 "" NA12006,NA12044,NA12287,NA12414 nsv526672 X 8784134 8976849 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703004 S 2026 1 0 FAM9B nsv6790 X 8859737 8893671 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3764 S 9 1 0 "" NA12878 nsv515590 X 8880937 8976849 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667635,nssv667305,nssv664625,nssv669465,nssv667389,nssv679244,nssv656931,nssv683873,nssv691178,nssv689993,nssv655420,nssv664019,nssv669030,nssv678040 M 2026 14 0 FAM9B esv1423733 X 8906494 8906494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203394 S 2 1 0 "" HuRef esv1235912 X 8949305 8949359 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4321462 S 2 0 1 "" HuRef nsv6791 X 8957929 8992141 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3765 S 9 1 0 FAM9B NA12878 nsv425235 X 8989518 8989518 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443813 M 24 "" nsv510813 X 9088525 9118784 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617446 S 4 0 1 "" CHM esv1007010 X 9217949 9221760 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564427 S 3 0 1 "" HuRef dgv2437e1 X 9289090 9460420 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3216,essv8919,essv21840,essv20296,essv2267,essv1362,essv12569,essv5361,essv4870,essv4245,essv4761,essv17522,essv13452,essv6562,esv437,essv20903,essv11594,essv11721,essv13844,essv15373,essv19531,essv17197,essv16808,essv18305,essv15410,essv491,essv2859,essv15986,essv2653 M 271 0 0 TBL1X NA10846,NA11839,NA12144,NA12762,NA12801,NA12864,NA18501,NA18561,NA18563,NA18603,NA18620,NA18621,NA18854,NA18862,NA18872,NA18952,NA18953,NA18966,NA18967,NA18974,NA19007,NA19098,NA19154,NA19171,NA19173,NA19192,NA19200,NA19203 nsv9932 X 9292226 9295866 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27487 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv513601 X 9316717 9317064 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626853 S 1 1 0 "" 1 nsv469613 X 9318792 9469148 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649537 M 265 2 5 Samples from several populations that are part of the HapMap project. TBL1X nsv6792 X 9326394 9353878 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11209,nssv5199,nssv6307,nssv10695,nssv3766,nssv9477,nssv1827,nssv849 M 9 8 0 "" NA12156,NA12878,NA15510,NA18517,NA18555,NA18956,NA19129,NA19240 nsv515222 X 9326422 9353007 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628376 S 1414 0 1 "" nsv9933 X 9329340 9342850 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26515,nssv26830,nssv26247,nssv27428,nssv25848,nssv23355,nssv27495,nssv28180,nssv26118 M 31 9 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA18504,NA18563,NA18572,NA18853,NA18860,NA19007,NA19144,NA19173 nsv508753 X 9330603 9347300 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623579,nssv618146,nssv619578,nssv620942 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv820920 X 9331980 9343040 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420189 S 1 1 0 "" NA10851 esv26498 X 9332060 9342768 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15557 S 451 8 6 "" NA07037,NA07045,NA11894,NA11931,NA12156,NA12287,NA12414,NA15510,NA18505,NA18858,NA18861,NA19099,NA19129,NA19225 nsv425160 X 9333316 9334360 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443738 M 24 "" nsv200 X 9333931 9335269 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv200 S 1 1 0 "" NA15510 nsv435892 X 9333984 9339753 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465791 S 2 0 1 "" NA15510 nsv499126 X 9334045 9338699 CNV Gain Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585632 S 9 1 0 "" nsv425028 X 9338085 9342151 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443606 M 24 "" esv25135 X 9392542 9394165 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12232 S 451 0 1 TBL1X NA11993 esv2609262 X 9497107 9497283 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5206952 S 1 0 1 TBL1X NA18507 nsv6793 X 9509653 9554295 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8684 S 9 0 1 TBL1X NA12156 nsv6794 X 9580979 9610976 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10696 S 9 1 0 TBL1X NA18956 esv2083318 X 9658061 9658600 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4769393 S 1 0 1 GPR143 NA18507 esv28708 X 9713741 9714954 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19420 S 451 0 1 SHROOM2 NA11993 esv2147584 X 9719907 9720306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4572562 S 1 0 1 SHROOM2 NA18507 esv1350812 X 9720200 9720200 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4098423 S 2 1 0 SHROOM2 HuRef nsv507944 X 9898403 9904403 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620460,nssv621950 M 4 2 0 "" NA10860,NA15510 esv2542129 X 9916698 9917543 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5352357 S 1 1 0 "" NA18507 esv2572097 X 9917512 9923846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5309963 S 1 0 1 "" NA18507 esv25793 X 9942509 9945831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15874,esv19449 M 451 0 3 WWC3 NA07037,NA07045,NA11993 nsv425073 X 9961020 9961020 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443651 M 24 WWC3 dgv2438e1 X 10011136 10192011 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv160,essv19587 M 271 0 0 CLCN4,WWC3 NA12864 nsv524562 X 10023448 10026068 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700516 S 2026 1 0 WWC3 nsv425191 X 10032794 10041691 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443769 M 24 WWC3 nsv519068 X 10142560 10143525 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696540 S 2026 1 0 CLCN4 nsv6795 X 10158831 10191027 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5200 S 9 1 0 CLCN4 NA19129 nsv510524 X 10271086 10277086 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622186 S 4 0 1 "" NA10860 nsv6796 X 10292653 10304636 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5201 S 9 1 0 "" NA19129 dgv500n21 X 10415285 10501670 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525785,nsv522012 M 2026 2 0 MID1 esv22291 X 10490516 10491080 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12722 S 451 0 2 MID1 NA19108,NA19114 nsv819623 X 10724313 10727323 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419498 S 2 1 0 MID1 AK1 nsv515163 X 11056218 11205561 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628377 S 1414 0 1 ARHGAP6 esv270995 X 11151668 11151753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519198 S 157 1 0 Samples from several populations that are part of the HapMap project. ARHGAP6 NA11894 nsv6797 X 11185042 11212180 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8686 S 9 0 1 ARHGAP6 NA12156 esv271693 X 11538241 11538835 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504014 S 157 1 0 Samples from several populations that are part of the HapMap project. ARHGAP6 hapmap_pooled_sample_set nsv510814 X 11617361 11643363 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622618 S 4 0 1 "" NA18994 nsv6799 X 11621541 11661003 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv850,nssv3767,nssv1828 M 9 0 3 "" NA12878,NA18555,NA19240 nsv436626 X 11635267 11641250 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465792 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499329 X 11635273 11641335 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586126 S 9 0 1 "" nsv524154 X 11651303 11726296 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700033 S 2026 1 0 MSL3 nsv526302 X 11651303 11792086 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702584 S 2026 1 0 MSL3 nsv523223 X 11660786 11663142 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698945 S 2026 1 0 "" nsv6800 X 11835051 11900332 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv851,nssv10697,nssv6308,nssv1829 M 9 0 4 "" NA12156,NA18555,NA18956,NA19240 nsv510815 X 11848314 11888610 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622619,nssv618863 M 4 0 2 "" NA10860,NA18994 esv1000023 X 11860144 11871058 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564546 S 3 0 1 "" HuRef nsv435895 X 11862981 11871893 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465793 S 2 0 1 "" NA15510 nsv512668 X 11863020 11869405 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625287 S 1 0 1 "" 1 nsv499225 X 11863106 11869371 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586127 S 9 0 1 "" esv994339 X 11863108 11869357 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3570363 S 3 0 1 "" HuRef esv1708125 X 11863120 11869370 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4218766 S 2 0 1 "" HuRef esv7022 X 11863122 11869357 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29463 S 1 0 1 "" SJK esv997650 X 11874358 11882295 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564216 S 3 0 1 "" HuRef nsv438123 X 11930107 11958570 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470139,nssv470138,nssv470142,nssv470140 M 269 0 4 Samples from several populations that are part of the HapMap project. "" NA10838,NA10839,NA12003,NA12005 nsv6801 X 11977482 12011601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2827 S 9 1 0 "" NA18555 nsv424962 X 12124952 12134240 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443540 M 24 FRMPD4 nsv6802 X 12242253 12287024 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8687 S 9 0 1 FRMPD4 NA12156 nsv507945 X 12256829 12262829 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621951 S 4 1 0 FRMPD4 NA10860 nsv516772 X 12298101 12329917 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670749,nssv655418 M 2026 2 0 FRMPD4 nsv515168 X 12344318 12346785 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628378 S 1414 0 1 FRMPD4 nsv518725 X 12348940 12353350 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696175 S 2026 1 0 FRMPD4 nsv6803 X 12427375 12472734 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6309 S 9 0 1 FRMPD4 NA12156 nsv510525 X 12505106 12511106 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622187,nssv618470 M 4 0 2 FRMPD4 CHM,NA10860 nsv519419 X 12537354 12571747 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656109,nssv676603 M 2026 2 0 FRMPD4 nsv512669 X 12549119 12551801 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625289 S 1 0 1 FRMPD4 1 esv2565381 X 12549393 12552112 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5209678 S 1 0 1 FRMPD4 NA18507 nsv520250 X 12695930 12731815 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690767,nssv662117,nssv662444 M 2026 3 0 PRPS2 esv1002384 X 12904339 12905161 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586909 S 3 1 0 TMSB4X HuRef nsv6804 X 12987435 13016173 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3768 S 9 1 0 "" NA12878 nsv6805 X 13097520 13130682 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3769 S 9 1 0 "" NA12878 nsv522512 X 13097810 13129488 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705880 S 2026 0 1 "" nsv524070 X 13142754 13162328 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699938 S 2026 1 0 "" nsv470341 X 13265088 13486514 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547024 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00625 nsv442800 X 13386706 13392612 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515172 X 13387773 13392194 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628379 S 1414 0 1 "" nsv528634 X 13624671 13966899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705264 S 2026 1 0 GEMIN8,GPM6B,OFD1,RAB9A,TRAPPC2 nsv516360 X 13767845 13772704 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667765,nssv684311,nssv658703 M 2026 0 3 GPM6B nsv510816 X 13796225 13861129 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618864 S 4 0 1 GPM6B NA10860 esv991320 X 13807794 13813762 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563565 S 3 0 1 GPM6B HuRef nsv512670 X 13809340 13811883 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625290 S 1 0 1 GPM6B 1 nsv526098 X 13837882 13856877 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702346 S 2026 0 1 GPM6B nsv525945 X 14015411 14016095 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702151 S 2026 1 0 "" nsv528635 X 14015411 14395566 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705265 S 2026 1 0 "" dgv501n21 X 14043961 14179759 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528363,nsv527337,nsv528086 M 2026 3 0 "" nsv515759 X 14059681 14077601 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664699,nssv674964 M 2026 2 0 "" esv268090 X 14061889 14063043 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510113,essv2511001,essv2506794,essv2495268,essv2508549,essv2508823,essv2502783,essv2493735,essv2508741,essv2497793,essv2494401,essv2500106,essv2507666,essv2508404,essv2507530,essv2500893,essv2505824,essv2494110,essv2513239,essv2509293,essv2511634,essv2496019,essv2509446,essv2497685,essv2512072,essv2501806,essv2498021,essv2503872,essv2504376 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07347,NA11829,NA11831,NA11918,NA11992,NA12717,NA12878,NA12892,NA18517,NA18532,NA18555,NA18572,NA18573,NA18576,NA18582,NA18638,NA18856,NA18861,NA18871,NA18907,NA18909,NA18940,NA18961,NA19129,NA19147,NA19238,NA19239,NA19240 esv273973 X 14061904 14063026 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582206,essv2582703,essv2583048,essv2584119 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 nsv6806 X 14097929 14105756 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9774 S 9 1 0 "" NA18507 nsv507946 X 14128998 14134998 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623083 S 4 1 0 "" NA18994 nsv6807 X 14188927 14224943 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8688 S 9 0 1 "" NA12156 nsv518109 X 14214395 14253662 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694202 S 2026 1 0 "" nsv6808 X 14283813 14316534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5202 S 9 1 0 "" NA19129 nsv526475 X 14291357 14630545 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702781 S 2026 1 0 GLRA2 esv270451 X 14344802 14345081 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504003 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv522625 X 14429791 14543094 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706022 S 2026 1 0 GLRA2 nsv518002 X 14471436 14630545 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695414 S 2026 1 0 GLRA2 nsv518062 X 14499283 14539311 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695474 S 2026 1 0 GLRA2 nsv6810 X 14505138 14550259 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8689 S 9 0 1 GLRA2 NA12156 dgv502n21 X 14519924 14630545 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv518884,nsv518237 M 2026 2 0 GLRA2 nsv520933 X 14527718 14569557 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682566,nssv677975 M 2026 2 0 GLRA2 nsv507947 X 14541818 14547818 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617964 S 4 1 0 GLRA2 CHM nsv6811 X 14544985 14576993 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6310 S 9 1 0 GLRA2 NA12156 esv27338 X 14554986 14555797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12206 S 451 0 1 GLRA2 NA18858 esv1737273 X 14559976 14559976 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4314219 S 2 1 0 GLRA2 HuRef nsv9934 X 14658781 15101697 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28212 S 31 0 1 Samples from several populations that are part of the HapMap project. FANCB,GLRA2,MOSPD2 NA18860 esv26362 X 14707775 14709174 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13373 S 451 0 2 "" NA18508,NA18907 nsv6812 X 14764363 14796499 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8690 S 9 0 1 FANCB NA12156 esv272861 X 14827140 14827372 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584467,essv2583593 M 7 2 0 Samples from several populations that are part of the HapMap project. MOSPD2 NA19239,NA19240 esv268644 X 14827141 14827327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565666,essv2526232,essv2542362,essv2523079,essv2570804,essv2545320,essv2535041,essv2554111,essv2544237,essv2520392,essv2558676,essv2553531,essv2576437,essv2537681,essv2546685,essv2541293,essv2522306,essv2531032,essv2529482,essv2536042,essv2549007,essv2533360,essv2547707,essv2524844 M 157 24 0 Samples from several populations that are part of the HapMap project. MOSPD2 NA06986,NA07037,NA07051,NA07347,NA07357,NA11829,NA11918,NA11919,NA11931,NA11993,NA12003,NA12249,NA12287,NA12414,NA12716,NA12750,NA12763,NA12814,NA12878,NA12892,NA18545,NA18571,NA18573,NA19093 esv269101 X 14960616 14960980 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510692,essv2509837,essv2493791,essv2494926,essv2494061,essv2513374,essv2495589,essv2506548,essv2498690 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18508,NA18517,NA18520,NA18871,NA18907,NA18916,NA19108,NA19138 nsv528005 X 15175140 15192416 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704531 S 2026 1 0 ASB9 esv1774504 X 15195628 15195628 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3917242 S 2 1 0 ASB9 HuRef nsv528343 X 15199974 15313272 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704925 S 2026 1 0 ASB11,FIGF,PIGA,PIR,PIR-FIGF nsv522729 X 15211454 15262095 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698361 S 2026 1 0 ASB11,PIGA nsv517938 X 15224699 15259091 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695350 S 2026 1 0 ASB11,PIGA nsv6813 X 15267123 15312004 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8691 S 9 0 1 FIGF,PIR-FIGF NA12156 nsv515969 X 15316982 15334607 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659567,nssv683425,nssv665529 M 2026 3 0 PIR,PIR-FIGF nsv521301 X 15340047 15357980 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694431 S 2026 1 0 PIR,PIR-FIGF nsv518666 X 15346537 15348936 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696115 S 2026 0 1 PIR,PIR-FIGF nsv510526 X 15461523 15467523 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624089,nssv621368,nssv618471,nssv622188 M 4 0 4 BMX CHM,NA10860,NA15510,NA18994 esv269220 X 15536747 15536832 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518999 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19141 dgv2439e1 X 15568691 15633925 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4930,esv925 M 271 0 0 CA5BP1,TMEM27 NA18537 nsv436917 X 15974223 16104325 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465794 S 2 1 0 Samples from several populations that are part of the HapMap project. GRPR NA18505 esv2484258 X 16093110 16093160 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5234654 S 1 0 1 "" NA18507 esv1336683 X 16111303 16111303 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692084 S 2 1 0 "" HuRef nsv510527 X 16177704 16183704 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618472 S 4 0 1 "" CHM nsv517315 X 16257818 16264450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv668372,nssv676439,nssv651688,nssv671355 M 2026 0 4 "" esv2649696 X 16336891 16338616 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5217607 S 1 0 1 "" NA18507 nsv512671 X 16337178 16338408 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625291 S 1 0 1 "" 1 esv2135791 X 16337420 16338341 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941579 S 1 0 1 "" NA18507 esv4203 X 16337568 16338211 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26644 S 1 0 1 Single Asian sample YH "" YH esv9311 X 16337616 16338130 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31752 S 1 0 1 "" SJK nsv425161 X 16337618 16338150 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443739 M 24 "" nsv442801 X 16382145 16387877 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" esv32680 X 16382326 16388348 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99543 S 51 0 1 "" 22335 nsv515190 X 16382695 16387813 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628381 S 1414 0 1 "" nsv438124 X 16383400 16388111 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470144,nssv470143 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18854,NA19161 nsv515596 X 16387902 16388111 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663596,nssv653656,nssv651775,nssv657405,nssv658240,nssv683769 M 2026 0 6 "" esv2413244 X 16451630 16452140 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4554542 S 1 0 1 "" NA18507 nsv425209 X 16451826 16451943 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443787 M 24 "" esv2298472 X 16465782 16466227 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674711 S 1 0 1 "" NA18507 esv270455 X 16467344 16467505 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510228,essv2511205,essv2502916,essv2508397,essv2498582,essv2505791,essv2495555,essv2502443,essv2512792,essv2506527 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA10851,NA11931,NA12156,NA12749,NA18858,NA18861,NA18916,NA18948,NA18980,NA19108 nsv6814 X 16471444 16516254 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8692 S 9 0 1 CTPS2 NA12156 nsv438125 X 16513272 16520443 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470146,nssv470148,nssv470145,nssv470147 M 269 0 4 Samples from several populations that are part of the HapMap project. CTPS2 NA19103,NA19128,NA19141,NA19154 nsv6815 X 16537216 16568913 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6311 S 9 1 0 CTPS2 NA12156 nsv6816 X 16578634 16609603 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv853 S 9 1 0 CTPS2,S100G NA19240 esv33814 X 16613180 16614062 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100732 S 51 1 0 CTPS2 21656 esv33194 X 16617433 16618729 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99403 S 51 0 1 CTPS2 22335 esv259795 X 16793548 16794040 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399027 S 144 0 0 Samples from several populations that are part of the HapMap project. RBBP7 NA10851 nsv511654 X 16796502 16804836 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626290 S 1 1 0 RBBP7 1 esv29438 X 16797755 16799170 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17023 S 451 0 1 RBBP7 NA11993 esv270083 X 16851826 16851911 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514328 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 dgv2440e1 X 17096581 17121599 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5952,esv1378 M 271 0 0 "" NA18577 nsv818015 X 17096834 17104972 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417755 S 112 0 1 "" NA18577 esv26372 X 17183893 17190566 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11188 S 451 0 1 "" NA07045 nsv6817 X 17229649 17261346 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6312 S 9 1 0 "" NA12156 dgv503n21 X 17257538 17470897 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528560,nsv522285 M 2026 2 0 MIR4768,NHS nsv7438 X 17333868 17339689 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6313 S 9 0 0 NHS NA12156 nsv6818 X 17335736 17380545 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8693 S 9 0 1 MIR4768,NHS NA12156 nsv525786 X 17381825 17470897 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701962 S 2026 1 0 NHS esv1495197 X 17412677 17412746 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4208997 S 2 0 1 NHS HuRef esv4497 X 17430335 17430962 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26938 S 1 0 1 Single Asian sample YH NHS YH esv1528723 X 17430551 17430866 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086864 S 2 0 1 NHS HuRef esv8205 X 17430554 17430852 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30646 S 1 0 1 NHS SJK esv23458 X 17547443 17548056 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19754 S 451 0 1 NHS NA19240 esv989786 X 17591510 17595885 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564543 S 3 1 0 NHS HuRef esv25269 X 17697560 17703260 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12843 S 451 1 0 "" NA12044 nsv829358 X 17698122 17703019 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431852 S 31 1 0 "" NA18947 nsv510817 X 17936690 18028415 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622620 S 4 0 1 "" NA18994 nsv510818 X 18102044 18150022 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622621 S 4 0 1 BEND2 NA18994 esv33657 X 18151675 18159839 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101142,essv94684,essv94067,essv97957,essv93151,essv95766,essv96615,essv93509,essv96565,essv99156,essv96313 M 51 0 11 "" 21618,21791,21802,21837,21863,21911,22011,22128,22261,22275,22371 esv24903 X 18187581 18191342 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18551,esv10165 M 451 0 6 SCML2 NA18508,NA19108,NA19129,NA19147,NA19190,NA19225 nsv6819 X 18246954 18271800 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9775 S 9 1 0 SCML2 NA18507 nsv6821 X 18550265 18584429 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8694 S 9 1 0 CDKL5,RS1 NA12156 nsv528654 X 18555480 18588611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705288 S 2026 1 0 CDKL5,RS1 esv33517 X 18589089 19056108 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96672,essv99804,essv99204,essv99383 M 51 0 4 GPR64,LOC100132163,PHKA2,PPEF1,RS1 22011,22086,22275,22335 esv2752317 X 18619307 19220342 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987252,essv6985768,essv6985769,essv6985767 M 771 1 0 GPR64,LOC100132163,PHKA2,PPEF1 SPC_42 nsv520478 X 18762004 18762816 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671737,nssv692884 M 2026 2 0 "" nsv6822 X 18778593 18813317 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv854 S 9 1 0 "" NA19240 nsv508754 X 18789030 18864584 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619579 S 4 1 0 LOC100132163,PHKA2 NA10860 nsv6823 X 18890447 18924499 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8695 S 9 1 0 GPR64,PHKA2 NA12156 esv25860 X 19139083 19139691 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12195 S 451 1 0 "" NA12044 esv2352855 X 19217985 19218409 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4770401 S 1 0 1 "" NA18507 esv22876 X 19284230 19284843 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13583 S 451 0 2 PDHA1 NA18505,NA19147 nsv425077 X 19295517 19295517 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443655 M 24 MAP3K15 esv23814 X 19375609 19379446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13450 S 451 0 3 MAP3K15 NA11993,NA12004,NA12776 nsv528469 X 19428853 19450969 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705072 S 2026 1 0 MAP3K15 nsv6824 X 19464792 19510134 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6314 S 9 0 1 SH3KBP1 NA12156 nsv6825 X 19477474 19511126 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8696 S 9 1 0 SH3KBP1 NA12156 nsv6826 X 19559406 19590384 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5204 S 9 1 0 SH3KBP1 NA19129 nsv6827 X 20000641 20023420 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8697 S 9 0 1 MAP7D2 NA12156 nsv425374 X 20022571 20022632 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443952 M 24 MAP7D2 esv25136 X 20053545 20056419 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10751 S 451 7 1 EIF1AX NA18502,NA18523,NA18907,NA18909,NA19099,NA19114,NA19129,NA19225 nsv820390 X 20053545 20056419 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420190 S 1 1 0 EIF1AX NA10851 nsv526033 X 20077242 20134489 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702264 S 2026 1 0 RPS6KA3 nsv520690 X 20077242 20246948 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697558 S 2026 1 0 RPS6KA3 esv1705238 X 20307765 20307765 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231977 S 2 1 0 "" HuRef nsv6828 X 20419731 20443760 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9478 S 9 1 0 "" NA18517 nsv517746 X 20655354 21002573 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660608,nssv659731,nssv655419,nssv656818,nssv656378,nssv688460,nssv677048,nssv693591,nssv675659,nssv661855,nssv680223,nssv679390,nssv664573,nssv692462,nssv679314,nssv682820,nssv666142,nssv689823,nssv653087 M 2026 19 0 "" nsv507948 X 20782939 20788939 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617965,nssv621952 M 4 2 0 "" CHM,NA10860 esv2477914 X 20832611 20833516 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5280537 S 1 1 0 "" NA18507 nsv519154 X 20969623 21289027 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696631 S 2026 0 1 "" nsv6829 X 21123112 21142132 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8698 S 9 0 1 "" NA12156 nsv510819 X 21248648 21311296 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622622 S 4 0 1 CNKSR2 NA18994 esv273338 X 21395671 21395885 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581012 S 7 1 0 Samples from several populations that are part of the HapMap project. CNKSR2 NA19238 nsv6830 X 21494529 21528734 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv855 S 9 1 0 CNKSR2 NA19240 nsv6832 X 21828234 21874131 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6316 S 9 0 1 SMS NA12156 nsv425472 X 21876496 21878472 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444050 M 24 SMS nsv819785 X 21906965 21912259 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419700 S 2 0 1 SMS AK1 esv26124 X 21945951 21951060 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16060 S 451 2 0 "" NA18508,NA19240 nsv522700 X 21949670 21950343 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706111 S 2026 1 0 "" nsv521384 X 22126688 22881365 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697994 S 2026 1 0 PHEX,ZNF645 esv1450052 X 22153023 22153023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3880560 S 2 1 0 PHEX HuRef nsv425055 X 22153032 22153032 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443633 M 24 PHEX nsv518528 X 22227444 22227634 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695971 S 2026 1 0 "" nsv524827 X 22227444 22238559 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700826 S 2026 1 0 "" esv267578 X 22274962 22275158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505124,essv2496451,essv2494539,essv2497131,essv2507851,essv2507643,essv2499232,essv2494018,essv2500497 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA18510,NA18550,NA18552,NA18564,NA18576,NA18605,NA18871,NA18956 nsv470342 X 22412395 22424700 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547025 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00569 nsv524358 X 22422997 22446616 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700269 S 2026 1 0 "" nsv510528 X 22463525 22469525 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622190 S 4 0 1 "" NA10860 nsv525571 X 22477923 22486055 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701710 S 2026 1 0 "" nsv524497 X 22477923 22492090 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700437 S 2026 1 0 "" nsv507949 X 22518137 22524137 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623084 S 4 1 0 "" NA18994 nsv527909 X 22557765 22579152 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704415 S 2026 1 0 "" nsv521854 X 22577912 22594282 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694628 S 2026 1 0 "" esv2492437 X 22581591 22583243 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306844 S 1 0 1 "" NA18507 esv2373748 X 22582293 22582992 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4509877 S 1 0 1 "" NA18507 esv2580595 X 22582493 22582807 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255358 S 1 0 1 "" NA18507 nsv6833 X 22585314 22618230 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv856 S 9 1 0 "" NA19240 nsv507950 X 22722168 22728168 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623085 S 4 1 0 "" NA18994 nsv470345 X 22745174 22786000 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547026 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00682 nsv526379 X 22771055 22823958 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702676 S 2026 1 0 "" dgv2441e1 X 22778622 22899486 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1305,esv1253 M 271 0 0 "" NA18980 nsv521967 X 22781792 22801683 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694735 S 2026 1 0 "" nsv527553 X 22823958 22876406 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704014 S 2026 0 1 "" esv1457225 X 22827059 22827059 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4065311 S 2 1 0 "" HuRef essv1313 X 22853202 22899486 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18973 nsv527975 X 22885722 22920046 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704490 S 2026 0 1 "" nsv6834 X 22887412 22922485 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3770 S 9 1 0 "" NA12878 nsv519336 X 22945851 22964062 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696799 S 2026 0 1 "" nsv520197 X 22961081 23009837 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661646,nssv673646 M 2026 2 0 "" nsv527982 X 23180848 23209329 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704501 S 2026 1 0 "" nsv521962 X 23280628 23293319 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694114 S 2026 1 0 PTCHD1 nsv520240 X 23325810 23392568 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697302 S 2026 1 0 "" nsv518424 X 23350608 23435385 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695859 S 2026 1 0 "" nsv526380 X 23350608 23476452 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702677 S 2026 1 0 "" nsv522092 X 23359756 23443140 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694864 S 2026 0 1 "" dgv74n64 X 23421414 23459970 CNV Loss Wang_et_al_2007 17921354 SNP_array nsv818016,nsv818018 M 112 0 2 "" NA10859,NA11882 nsv6835 X 23517278 23522663 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8699 S 9 1 0 "" NA12156 nsv507951 X 23570649 23576649 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620461 S 4 1 0 "" NA15510 nsv526897 X 23596108 23611583 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703255 S 2026 1 0 PRDX4 nsv470346 X 23666786 23714792 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547027 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ACOT9,SAT1 HGDP00690 esv1386119 X 23708186 23708186 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4187851 S 2 1 0 "" HuRef nsv6836 X 23833579 23866648 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8700 S 9 1 0 APOO,CXorf58 NA12156 esv2631210 X 23910376 23910965 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5244778 S 1 1 0 "" NA18507 esv1273686 X 23910715 23910715 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3842075 S 2 1 0 "" HuRef nsv524256 X 23949698 24088963 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700153 S 2026 1 0 EIF2S3,KLHL15,ZFX esv22476 X 23952808 23953834 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14227 S 451 0 1 KLHL15 NA11993 esv2444292 X 24010585 24012264 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389231 S 1 0 1 "" NA18507 esv2201048 X 24011204 24011739 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4905342 S 1 0 1 "" NA18507 nsv818019 X 24043387 24088963 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415931,nssv1415932 M 112 2 0 ZFX NA10861,NA11995 dgv504n21 X 24043387 24144418 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522378,nsv516667 M 2026 7 0 ZFX nsv515191 X 24110034 24110748 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628382 S 1414 1 0 ZFX nsv515192 X 24128914 24131104 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628383 S 1414 1 0 ZFX esv6827 X 24202596 24202952 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29268 S 1 0 1 "" SJK esv1024416 X 24202636 24202968 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4097735 S 2 0 1 "" HuRef nsv517960 X 24659780 24891894 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695373 S 2026 1 0 POLA1,SCARNA23 esv2146318 X 24733909 24734327 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4955390 S 1 0 1 POLA1 NA18507 esv272678 X 25069184 25069460 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580646 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 nsv425056 X 25139075 25139135 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443634 M 24 "" nsv6837 X 25142560 25171467 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5205 S 9 1 0 "" NA19129 nsv510820 X 25169104 25189872 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622623 S 4 0 1 "" NA18994 nsv524226 X 25181546 25224643 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700114 S 2026 0 1 "" esv6592 X 25214650 25214702 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29033 S 1 1 0 "" SJK nsv527239 X 25215391 25218657 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703640 S 2026 1 0 "" nsv517323 X 25601184 25607363 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651717,nssv706023,nssv686477,nssv679573 M 2026 4 0 "" nsv524523 X 25725258 25794627 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700471 S 2026 1 0 "" esv273256 X 25888281 25888620 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580060 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv259455 X 25944139 25944455 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394248,essv2393961 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv259786 X 25944160 25944474 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398498,essv2401133,essv2395787,essv2396245,essv2398674,essv2397332,essv2401104,essv2396124,essv2394947,essv2397468,essv2400818,essv2398747,essv2400998,essv2396367 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA11931,NA12004,NA12006,NA12489,NA12878,NA12891,NA18523,NA18545,NA18947,NA18952,NA19005,NA19099,NA19138 esv1771638 X 25944366 25944366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363765 S 2 1 0 "" HuRef esv26403 X 25969692 25973327 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14713 S 451 1 0 "" NA07037 esv1008843 X 25970071 25975481 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586549 S 3 1 0 "" HuRef nsv522405 X 26136108 27017407 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695187 S 2026 1 0 VENTXP1 nsv525877 X 26153628 26696857 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702077 S 2026 1 0 VENTXP1 esv29736 X 26273128 26276215 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15438 S 451 0 2 "" NA18511,NA18916 esv988749 X 26425381 26432190 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586335 S 3 1 0 "" HuRef esv21653 X 26426171 26432480 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20216 S 451 1 0 "" NA07037 nsv526381 X 26564331 27015006 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702678 S 2026 1 0 "" esv1112328 X 26649297 26649423 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692913 S 2 0 1 "" HuRef esv1005328 X 26651989 26652053 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3575924 S 3 0 1 "" HuRef esv1717684 X 26651998 26652061 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4275999 S 2 0 1 "" HuRef nsv6838 X 26702703 26712663 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3772 S 9 1 0 "" NA12878 nsv524751 X 26719286 26724575 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700742 S 2026 1 0 "" esv27334 X 26720578 26730962 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14977 S 451 1 0 "" NA12878 nsv521524 X 26733945 26838653 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698141 S 2026 1 0 "" nsv510529 X 26750206 26756206 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624090 S 4 0 1 "" NA18994 nsv527781 X 26803525 26838653 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704272 S 2026 1 0 "" esv267638 X 26832253 26833886 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505091,essv2495914,essv2503811,essv2493464,essv2497171,essv2508292,essv2507690,essv2512692,essv2505618,essv2495008,essv2511519 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07346,NA11995,NA12489,NA12761,NA12763,NA18552,NA18561,NA18576,NA18577,NA19005 esv1003051 X 26832283 26832295 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563664 S 3 1 0 "" HuRef esv1971336 X 26864654 26865093 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4520704 S 1 0 1 "" NA18507 esv1004414 X 26864855 26864924 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572684 S 3 0 1 "" HuRef nsv511082 X 26977822 26993122 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624328 S 4 0 0 "" NA18994 nsv523912 X 27074426 27345229 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699755 S 2026 1 0 "" esv1588675 X 27138922 27139287 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3706001 S 2 0 1 "" HuRef nsv507952 X 27154215 27160215 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620462,nssv621953,nssv617966,nssv623086 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv520612 X 27158597 27265614 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697518 S 2026 1 0 "" esv25731 X 27175840 27410013 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11397 S 451 3 0 SMEK3P NA11993,NA18511,NA18907 nsv510821 X 27241542 27248993 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620034 S 4 0 1 "" NA15510 esv1636501 X 27330960 27330960 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3622116 S 2 1 0 "" HuRef esv1536971 X 27331102 27331102 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145900 S 2 1 0 "" HuRef esv4298 X 27368493 27372692 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26739 S 1 0 1 Single Asian sample YH "" YH esv2231635 X 27372297 27372727 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4577760 S 1 0 1 "" NA18507 esv1703594 X 27386565 27386565 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4138135 S 2 1 0 "" HuRef nsv526948 X 27392213 27829327 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703318 S 2026 1 0 DCAF8L2,MAGEB10 nsv510530 X 27419902 27425902 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622191 S 4 0 1 "" NA10860 esv1435849 X 27456061 27456061 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108704 S 2 1 0 "" HuRef nsv508755 X 27578438 27619395 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623580 S 4 1 0 "" NA18994 nsv527016 X 27620414 27632598 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703391 S 2026 1 0 "" nsv521729 X 27620414 27749493 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694092 S 2026 1 0 DCAF8L2,MAGEB10 esv24827 X 27624689 27626463 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17475 S 451 0 3 "" NA18508,NA19114,NA19240 nsv508756 X 27672460 27707155 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623581 S 4 1 0 DCAF8L2 NA18994 esv268696 X 27715680 27715788 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496405,essv2496279 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18511 esv274034 X 27741274 27741409 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582156,essv2582548,essv2584045,essv2584758,essv2583602 M 7 5 0 Samples from several populations that are part of the HapMap project. MAGEB10 NA12878,NA12891,NA19238,NA19239,NA19240 nsv518944 X 27759859 27942937 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696411 S 2026 1 0 DCAF8L1 nsv6839 X 27892483 27940854 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6317,nssv5206 M 9 0 2 DCAF8L1 NA12156,NA19129 nsv524722 X 27931897 27942937 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700708 S 2026 1 0 "" nsv438127 X 27944378 28011886 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470149,nssv470150 M 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18972 nsv522579 X 27995159 28009496 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705966 S 2026 1 0 "" nsv523291 X 27996417 28124141 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699031 S 2026 1 0 "" nsv425250 X 28004793 28004850 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443828 M 24 "" essv2561 X 28109842 28339421 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18974 essv3191 X 28113107 28260477 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18974 nsv521194 X 28169831 28222721 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697837 S 2026 1 0 "" nsv527359 X 28209971 28215234 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703789 S 2026 1 0 "" nsv510822 X 28237686 28280090 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618865 S 4 0 1 "" NA10860 nsv6840 X 28240250 28271676 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11210 S 9 1 0 "" NA15510 essv5207 X 28257706 28510148 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18611 esv268403 X 28326920 28327184 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500465,essv2503262,essv2512963,essv2497215,essv2511348,essv2500102,essv2507670,essv2508657,essv2503504,essv2497432,essv2500744 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18537,NA18542,NA18547,NA18552,NA18570,NA18573,NA18576,NA18592,NA18947,NA18959,NA18973 esv269524 X 28356376 28356686 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505112,essv2512212,essv2502886,essv2495337,essv2510376,essv2502581,essv2508857,essv2502780 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12155,NA12156,NA12287,NA12414,NA12750,NA12878,NA12892 esv272941 X 28356400 28356725 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584151,essv2584697,essv2583399 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv9936 X 28393035 28395996 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28214 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860 nsv507953 X 28406760 28412760 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620463,nssv621954 M 4 2 0 "" NA10860,NA15510 nsv425098 X 28411765 28417285 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443676 M 24 "" nsv510823 X 28419349 28438251 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622624 S 4 0 1 "" NA18994 nsv6841 X 28508356 28538752 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3773 S 9 1 0 IL1RAPL1 NA12878 nsv521056 X 28518057 28592616 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697759 S 2026 1 0 IL1RAPL1 esv270562 X 28557204 28557289 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515285 S 157 1 0 Samples from several populations that are part of the HapMap project. IL1RAPL1 NA12249 esv9700 X 28692933 28695929 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32141 S 1 0 0 IL1RAPL1 SJK nsv521806 X 28768711 28919171 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694577 S 2026 1 0 IL1RAPL1 nsv516364 X 28808735 29284203 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697488,nssv680830,nssv682723,nssv661621,nssv662584,nssv700121,nssv694420,nssv701452,nssv704650,nssv702174,nssv655128,nssv655020,nssv700827,nssv694419,nssv656068,nssv667784,nssv700472 M 2026 17 0 IL1RAPL1 esv1562020 X 28821431 28821628 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736754 S 2 0 0 IL1RAPL1 HuRef nsv508758 X 29066099 29091836 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619580 S 4 1 0 IL1RAPL1 NA10860 esv1124430 X 29096923 29096923 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3771508 S 2 1 0 IL1RAPL1 HuRef esv24751 X 29176738 29178248 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13584 S 451 0 2 IL1RAPL1 NA19099,NA19114 nsv507954 X 29187313 29193313 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621955 S 4 1 0 IL1RAPL1 NA10860 nsv521673 X 29198570 29343275 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698291 S 2026 1 0 IL1RAPL1 dgv1251n67 X 29259584 29266178 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829359,nsv829360 M 31 2 0 IL1RAPL1 AK12,AK6 nsv508759 X 29345939 29368292 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619581 S 4 1 0 IL1RAPL1 NA10860 esv269436 X 29411163 29414458 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2518031 S 157 1 0 Samples from several populations that are part of the HapMap project. IL1RAPL1 NA12872 nsv523313 X 29446046 29557942 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699055 S 2026 0 1 IL1RAPL1 nsv522610 X 29483943 29506785 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706002 S 2026 1 0 IL1RAPL1 nsv527547 X 29491474 29529592 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704008 S 2026 1 0 IL1RAPL1 nsv425042 X 29496376 29496376 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443620 M 24 IL1RAPL1 nsv527992 X 29548199 29601438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704515 S 2026 1 0 IL1RAPL1 nsv527548 X 29698809 29794259 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704009 S 2026 1 0 IL1RAPL1 nsv818020 X 29702029 29734110 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416212 S 112 0 1 IL1RAPL1 NA12892 nsv523207 X 29778102 29797854 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698927 S 2026 1 0 IL1RAPL1 nsv6843 X 29886306 29903560 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3774 S 9 1 0 "" NA12878 esv9556 X 29894157 29894218 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31997 S 1 1 0 "" SJK esv33402 X 29898475 29901529 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97285 S 51 0 1 "" 21879 nsv521731 X 30026574 30047201 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694492 S 2026 1 0 "" nsv520531 X 30029698 30142097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673463,nssv672168 M 2026 2 0 "" esv1136330 X 30043751 30043751 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4105272 S 2 1 0 "" HuRef nsv6844 X 30065686 30099592 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5207 S 9 1 0 "" NA19129 nsv518680 X 30187894 30215789 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696129 S 2026 1 0 "" esv1053294 X 30195723 30195795 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149419 S 2 0 1 "" HuRef esv259747 X 30211047 30219718 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395634,essv2396149,essv2398290 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18523,NA19093 esv28822 X 30211051 30219571 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16358 S 451 1 0 "" NA18523 nsv818021 X 30211162 30215789 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416427,nssv1416438 M 112 2 0 "" NA19140,NA19142 dgv505n21 X 30226101 30369434 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520655,nsv526743 M 2026 4 0 NR0B1 nsv6845 X 30249448 30294655 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8701 S 9 0 1 "" NA12156 nsv470347 X 30256799 30383396 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547028 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00323 nsv6846 X 30323330 30368986 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6318 S 9 0 1 "" NA12156 nsv510531 X 30349008 30355008 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622192 S 4 0 1 "" NA10860 nsv510532 X 30482846 30488846 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618473,nssv621369,nssv622194,nssv624092 M 4 0 4 CXorf21 CHM,NA10860,NA15510,NA18994 esv1454691 X 30531244 30531295 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4335159 S 2 0 1 "" HuRef esv1138704 X 30572352 30572352 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3672958 S 2 1 0 "" HuRef nsv508760 X 30681376 30709235 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619582 S 4 1 0 "" NA10860 nsv511659 X 30700803 30739265 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626295 S 1 0 1 "" 1 nsv6847 X 30703732 30719401 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5208 S 9 1 0 "" NA19129 esv24200 X 30716480 30735762 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18051 S 451 6 1 "" NA06985,NA12044,NA12239,NA12287,NA12489,NA12828,NA19129 esv989473 X 30716604 30734809 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586180 S 3 0 1 "" HuRef esv1093590 X 30721499 30721499 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4059433 S 2 1 0 "" HuRef nsv513602 X 30729640 30730164 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626854 S 1 1 0 "" 1 esv1262079 X 30729737 30729737 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3871685 S 2 1 0 "" HuRef esv1282137 X 30796552 30796613 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4174577 S 2 0 1 TAB3 HuRef nsv6848 X 30922033 30956026 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8702 S 9 1 0 "" NA12156 esv2031826 X 31115573 31115998 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4641169 S 1 0 1 DMD NA18507 nsv521510 X 31141593 31164923 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698127 S 2026 1 0 DMD dgv506n21 X 31169158 31191742 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv526304,nsv523957 M 2026 2 0 DMD esv268432 X 31185207 31185530 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516475,essv2517851,essv2516249,essv2515240,essv2518199 M 157 5 0 Samples from several populations that are part of the HapMap project. DMD NA12814,NA12878,NA12891,NA19238,NA19240 esv272634 X 31185211 31185524 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584396,essv2583437 M 7 2 0 Samples from several populations that are part of the HapMap project. DMD NA19239,NA19240 nsv519609 X 31210083 31232015 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694337 S 2026 1 0 DMD essv17970 X 31273537 31429069 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. DMD NA12003 esv267532 X 31280216 31280576 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2495907,essv2507785,essv2513093 M 157 3 0 Samples from several populations that are part of the HapMap project. DMD NA10847,NA12489,NA12751 nsv818022 X 31356724 31390956 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416213 S 112 1 0 DMD NA12892 nsv525349 X 31401901 31437476 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701468 S 2026 1 0 DMD nsv527085 X 31401901 31487383 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703464 S 2026 1 0 DMD nsv522266 X 31412078 31464466 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695046 S 2026 1 0 DMD nsv425335 X 31456194 31456281 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443913 M 24 DMD esv2630000 X 31484430 31484559 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5348070 S 1 0 1 DMD NA18507 esv3926 X 31487361 31487761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26367 S 1 0 1 Single Asian sample YH DMD YH nsv521457 X 31490458 31544013 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694448 S 2026 1 0 DMD nsv520230 X 31520996 31829580 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697295 S 2026 0 1 DMD nsv521797 X 31652167 32042251 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694567 S 2026 1 0 DMD esv2752321 X 31676564 31888865 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989528,essv6989266,essv6981851 M 771 0 1 DMD BEC_493 nsv527851 X 31737793 31905254 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704349 S 2026 0 1 DMD nsv526755 X 31754369 31773234 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703102 S 2026 1 0 DMD nsv524418 X 31760187 31793331 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700344 S 2026 1 0 DMD nsv525835 X 31777549 31787851 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702026 S 2026 0 1 DMD nsv829361 X 31808284 31814453 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432636 S 31 1 0 DMD AK20 esv268295 X 31809216 31809569 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510245,essv2510142,essv2511020,essv2495449,essv2504436,essv2495326,essv2510328,essv2511747,essv2494201,essv2503039,essv2496149,essv2493579,essv2508751,essv2510016,essv2513422,essv2503526,essv2493140,essv2505454,essv2512773,essv2506699,essv2498966,essv2499711,essv2511564,essv2504331,essv2499602 M 157 25 0 Samples from several populations that are part of the HapMap project. DMD NA07346,NA07347,NA07357,NA10851,NA11829,NA11831,NA11919,NA11993,NA12287,NA12414,NA18499,NA18502,NA18507,NA18511,NA18517,NA18532,NA18593,NA18907,NA18947,NA18951,NA18952,NA18980,NA19108,NA19114,NA19225 nsv527890 X 31903594 32146414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704393 S 2026 0 1 DMD nsv6849 X 31905238 31950319 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8703 S 9 0 1 DMD NA12156 esv274259 X 31910976 31911236 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581926,essv2583064 M 7 2 0 Samples from several populations that are part of the HapMap project. DMD NA12878,NA12892 esv268450 X 31910977 31911243 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521451,essv2526073,essv2542291,essv2536600,essv2544205,essv2552280,essv2577960,essv2565424,essv2537685,essv2528644,essv2546671,essv2544661,essv2541367,essv2542821,essv2540448,essv2524691,essv2564909,essv2519645,essv2532815,essv2567346,essv2569919,essv2527905,essv2530105,essv2522487,essv2573491,essv2572125,essv2575631,essv2545236,essv2536202,essv2554603,essv2524901 M 157 31 0 Samples from several populations that are part of the HapMap project. DMD NA06986,NA07346,NA07357,NA11894,NA11918,NA11919,NA11920,NA11992,NA12489,NA12761,NA12812,NA12878,NA12891,NA12892,NA18526,NA18545,NA18550,NA18552,NA18555,NA18558,NA18566,NA18576,NA18582,NA18593,NA18907,NA18949,NA18960,NA18964,NA18973,NA19099,NA19172 nsv470348 X 31959327 31981425 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547029 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations DMD HGDP01085 nsv6850 X 32032928 32041053 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3775 S 9 1 0 DMD NA12878 nsv521798 X 32075484 32425550 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694568 S 2026 1 0 DMD nsv522580 X 32149326 32168011 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705967 S 2026 0 1 DMD nsv528601 X 32227629 32231281 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705227 S 2026 1 0 DMD nsv516788 X 32235686 32286866 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv670873,nssv676707,nssv678485,nssv686516,nssv687079 M 2026 5 0 DMD nsv507955 X 32293836 32299836 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620464,nssv623087 M 4 2 0 DMD NA15510,NA18994 esv21949 X 32340343 32341523 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16829 S 451 0 1 DMD NA19225 esv3401 X 32380297 32380796 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25842 S 1 0 1 Single Asian sample YH DMD YH nsv520320 X 32390211 32435739 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672671,nssv662873,nssv682974,nssv680298 M 2026 4 0 DMD nsv521825 X 32420623 32454476 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694598 S 2026 1 0 DMD nsv6851 X 32456417 32487242 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv857 S 9 1 0 DMD NA19240 nsv438128 X 32465726 32471331 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470154,nssv470155,nssv470151,nssv470153 M 269 0 4 Samples from several populations that are part of the HapMap project. DMD NA18500,NA18501,NA18503,NA18504 nsv526588 X 32473184 32506438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702906 S 2026 1 0 DMD nsv510824 X 32507336 32523496 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622625 S 4 0 1 DMD NA18994 nsv523241 X 32522215 32553374 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698969 S 2026 1 0 DMD esv23658 X 32554554 32555617 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20848 S 451 0 2 DMD NA18523,NA19240 dgv507n21 X 32647580 32737386 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527233,nsv522637 M 2026 2 0 DMD esv270344 X 32655802 32656003 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512571,essv2509900,essv2498557,essv2506859,essv2509504,essv2498731 M 157 6 0 Samples from several populations that are part of the HapMap project. DMD NA18489,NA18508,NA18858,NA19102,NA19129,NA19138 nsv526613 X 32688112 32714611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702933 S 2026 1 0 DMD nsv528951 X 32718755 32719084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705645 S 2026 0 1 DMD nsv522648 X 32763186 32766712 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706048 S 2026 1 0 DMD nsv525602 X 32763186 32768947 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701746 S 2026 1 0 DMD esv27228 X 32829469 32830766 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19185 S 451 0 1 DMD NA19240 esv1004963 X 32878006 32878006 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571662 S 3 1 0 DMD HuRef esv1729208 X 32878007 32878007 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3957252 S 2 1 0 DMD HuRef nsv526198 X 32882465 32891871 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702460 S 2026 1 0 DMD esv2427720 X 32896450 32899535 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5172610 S 1 0 1 DMD NA18507 nsv512672 X 32896743 32899336 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625292 S 1 0 1 DMD 1 esv2057266 X 32897085 32899176 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4823811 S 1 0 1 DMD NA18507 nsv829362 X 32897125 32899093 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439438,nssv1430318,nssv1433397 M 31 0 3 DMD AK14,NA18972,NA18973 esv26477 X 32897162 32898937 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10701,esv16958 M 451 0 9 DMD NA12044,NA12878,NA18523,NA18861,NA18909,NA18916,NA19129,NA19147,NA19225 esv995992 X 32937780 32937969 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563888 S 3 1 0 DMD HuRef dgv508n21 X 32975809 33230533 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522100,nsv522469 M 2026 2 0 DMD nsv522546 X 32985899 33023568 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705926 S 2026 1 0 DMD esv9670 X 33118503 33118824 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32111 S 1 0 1 DMD SJK esv1060233 X 33118514 33118838 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079476 S 2 0 1 DMD HuRef nsv520052 X 33119101 33142295 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681427,nssv660319 M 2026 2 0 DMD nsv527706 X 33119101 33180372 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704185 S 2026 1 0 DMD nsv437852 X 33141602 33152617 CNV Loss Conrad et al 2006 16327808 BAC_aCGH,SNP_genotyping_analysis Not Provided nssv467733 S 60 0 1 Samples from several populations that are part of the HapMap project. DMD NA18500 nsv525750 X 33180372 33341588 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701917 S 2026 1 0 DMD nsv525738 X 33205095 33277280 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701903 S 2026 1 0 DMD esv269452 X 33212724 33213074 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519273,essv2518574,essv2516549,essv2515658,essv2518153,essv2517609,essv2516259,essv2516930 M 157 8 0 Samples from several populations that are part of the HapMap project. DMD NA11894,NA12287,NA12814,NA12815,NA12872,NA12878,NA12891,NA12892 esv272498 X 33212735 33213075 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582071,essv2582680,essv2584229,essv2583640 M 7 4 0 Samples from several populations that are part of the HapMap project. DMD NA12878,NA12891,NA19238,NA19240 nsv518478 X 33213952 33214791 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695914 S 2026 0 1 DMD dgv509n21 X 33301665 33467824 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv516480,nsv526258 M 2026 4 0 "" nsv508761 X 33318579 33361187 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619583,nssv623582 M 4 2 0 "" NA10860,NA18994 nsv6852 X 33326712 33341981 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2828 S 9 1 0 "" NA18555 nsv523726 X 33468649 33639323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699542 S 2026 1 0 "" esv2752322 X 33515146 34267996 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6981297,essv6981296,essv6985535,essv6981298 M 771 1 0 FAM47A BEC_379 nsv528125 X 33604334 33639323 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704670 S 2026 1 0 "" nsv524162 X 33608760 33622343 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700041 S 2026 1 0 "" esv1940082 X 33712452 33712861 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4785557 S 1 0 1 "" NA18507 esv33038 X 33749050 33751445 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101043 S 51 0 1 "" 21693 nsv518993 X 33793624 33939851 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696460 S 2026 1 0 "" nsv520379 X 33844673 33948996 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663390,nssv676708,nssv696466 M 2026 3 0 "" esv1525092 X 33847149 33847149 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101900 S 2 1 0 "" HuRef nsv510825 X 33934793 33959347 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622626 S 4 0 1 "" NA18994 esv25856 X 33952907 33982606 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17502 S 451 0 1 "" NA12776 esv33675 X 33953261 33981521 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98617 S 51 0 1 "" 22085 nsv516353 X 33964391 33977948 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667739,nssv688567,nssv681571,nssv674399,nssv657195 M 2026 0 5 "" nsv438129 X 34030808 34031543 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470157,nssv470156 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19141,NA19206 nsv820274 X 34059392 34066693 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419820 S 2 1 0 FAM47A AK1 nsv820892 X 34063306 34067245 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420191 S 1 0 1 "" NA10851 esv29533 X 34063476 34066670 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19118 S 451 1 4 "" NA07037,NA11995,NA12287,NA12489,NA18511 nsv6855 X 34139366 34171704 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8704 S 9 1 0 "" NA12156 nsv507956 X 34146573 34152573 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620465,nssv621956 M 4 2 0 "" NA10860,NA15510 esv268679 X 34152344 34152671 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2576002,essv2521240,essv2568072,essv2531731,essv2577638,essv2576672,essv2547270,essv2529342,essv2564530,essv2576143,essv2520128,essv2554827,essv2537597,essv2546656,essv2520964,essv2557279,essv2557260,essv2552579,essv2569498,essv2578805,essv2550050,essv2537093,essv2569788,essv2561568,essv2523774,essv2553018,essv2541305,essv2538353,essv2542689,essv2549264,essv2519918,essv2522025,essv2530933,essv2532905,essv2541505,essv2553160,essv2535898,essv2551098,essv2528018,essv2578183,essv2573038,essv2555607,essv2566572,essv2522540,essv2575592,essv2575047,essv2560764,essv2572724,essv2545016,essv2571554,essv2545939,essv2574063,essv2551635,essv2537886,essv2524959 M 157 55 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07357,NA11830,NA11894,NA11995,NA12006,NA12043,NA12154,NA12717,NA12749,NA12751,NA12814,NA12815,NA12872,NA12878,NA12892,NA18498,NA18499,NA18501,NA18502,NA18508,NA18510,NA18511,NA18517,NA18520,NA18523,NA18537,NA18542,NA18545,NA18547,NA18550,NA18564,NA18566,NA18571,NA18573,NA18576,NA18592,NA18605,NA18608,NA18858,NA18907,NA18940,NA18942,NA18945,NA18948,NA18960,NA19099,NA19102,NA19116,NA19143,NA19172,NA19238,NA19239,NA19240,NA19257 esv274455 X 34152349 34152674 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581715,essv2582434,essv2582987 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 esv1516346 X 34152375 34152375 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3907647 S 2 1 0 "" HuRef esv268687 X 34203368 34203615 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2498277,essv2508755,essv2504551,essv2511320,essv2500647,essv2500164,essv2512734,essv2507450,essv2500547,essv2495219,essv2502718,essv2500738,essv2497634 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18526,NA18532,NA18563,NA18570,NA18571,NA18573,NA18577,NA18638,NA18956,NA18964,NA18965,NA18973,NA19147 nsv520530 X 34321711 34450748 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697471 S 2026 1 0 "" nsv6856 X 34333744 34355002 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3776 S 9 0 1 "" NA12878 esv22039 X 34349718 34351763 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19031 S 451 0 1 "" NA18511 nsv519268 X 34402291 34574956 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696757 S 2026 1 0 TMEM47 nsv6857 X 34563489 34597525 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8706 S 9 1 0 TMEM47 NA12156 nsv6858 X 34604710 34650622 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6319 S 9 0 1 "" NA12156 nsv510533 X 34661064 34667064 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624093,nssv618474 M 4 0 2 "" CHM,NA18994 nsv6859 X 34700856 34746050 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8707 S 9 0 1 "" NA12156 esv259999 X 34738858 34739165 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399190,essv2397696,essv2394990,essv2395717,essv2400943,essv2398812,essv2394617,essv2397485,essv2397127,essv2397768,essv2395191,essv2399534 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12776,NA18502,NA18511,NA18532,NA18547,NA18582,NA18870,NA18947,NA18951,NA18956,NA19108,NA19137 esv259585 X 34738890 34739141 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394152,essv2394352 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19240 nsv519107 X 34854919 34947000 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696583 S 2026 1 0 FAM47B nsv527976 X 34854919 35492299 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704491 S 2026 1 0 FAM47B nsv424989 X 34898099 34898643 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443567 M 24 "" nsv517572 X 34901081 34940975 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659649,nssv664226,nssv652413 M 2026 3 0 "" esv268748 X 34922463 34922819 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2506218,essv2505376,essv2498458,essv2494071,essv2507414,essv2504819,essv2497500 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18523,NA18853,NA18858,NA18871,NA18912,NA19099,NA19147 esv259910 X 34924021 34930417 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2397010 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18973 nsv829365 X 34924524 34928597 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439439 S 31 1 0 "" NA18973 nsv6860 X 34930618 34979529 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv858,nssv6320 M 9 2 0 "" NA12156,NA19240 esv2274345 X 34937088 34937525 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4976950 S 1 0 1 "" NA18507 esv272343 X 34937981 34938330 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580235,essv2580425,essv2579967,essv2580716,essv2578985,essv2579807 M 7 6 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv270186 X 34937987 34938324 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514706,essv2519172,essv2517043,essv2514742,essv2515306,essv2518457,essv2514918,essv2515542,essv2516142,essv2514310,essv2517816,essv2516265,essv2516844,essv2519055,essv2513869,essv2515250,essv2518887,essv2518369 M 157 18 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11894,NA11931,NA12234,NA12249,NA12287,NA12812,NA12815,NA12873,NA12874,NA12878,NA12891,NA12892,NA19141,NA19143,NA19238,NA19239,NA19240 nsv510826 X 35008400 35027294 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622627 S 4 0 1 "" NA18994 nsv516080 X 35019491 35027159 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666063,nssv668768,nssv671507 M 2026 3 0 "" nsv523756 X 35019491 35058943 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699574 S 2026 1 0 "" nsv507957 X 35157501 35163501 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621957 S 4 1 0 "" NA10860 esv269862 X 35176827 35177142 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493173,essv2504136,essv2496573,essv2499097 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18505,NA18510,NA19114 nsv507958 X 35227135 35233135 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617967 S 4 1 0 "" CHM esv2514359 X 35232874 35234888 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329884 S 1 0 1 "" NA18507 nsv519084 X 35290700 35319771 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696557 S 2026 1 0 "" esv2460798 X 35328690 35329667 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5275022 S 1 1 0 "" NA18507 esv25545 X 35351632 35355300 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17623 S 451 0 2 "" NA18861,NA19114 nsv527390 X 35391745 35474179 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703825 S 2026 1 0 "" esv1683837 X 35476290 35476290 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342178 S 2 1 0 "" HuRef esv25180 X 35504293 35505446 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10716 S 451 0 1 "" NA18858 nsv436628 X 35537309 35545019 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465795 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22979 X 35540401 35544337 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12216 S 451 0 3 "" NA18505,NA18909,NA19108 nsv442802 X 35540930 35543706 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515193 X 35541156 35543688 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628384 S 1414 0 1 "" esv259906 X 35592356 35592848 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398888,essv2400121,essv2398153,essv2398730,essv2399815 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA18861,NA18949,NA19005,NA19129 esv25192 X 35624019 35625998 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10025 S 451 0 4 "" NA18517,NA18858,NA19108,NA19114 esv24451 X 35724673 35727246 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15282 S 451 0 1 MAGEB16 NA18511 nsv522638 X 35791233 35797930 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706036 S 2026 1 0 "" esv1035775 X 35894240 35894240 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153969 S 2 1 0 CXorf22 HuRef nsv470349 X 35916163 36348491 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547034,nssv547033,nssv547035,nssv547036,nssv547030 M 443 5 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CXorf22,CXorf30,CXorf59 HGDP00633,HGDP00684,HGDP01363,HGDP01365,HGDP01386 nsv516150 X 35917535 36088549 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666507,nssv656379 M 2026 2 0 CXorf22,CXorf59 esv272526 X 36110778 36110863 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581135 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv268765 X 36262509 36262742 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501274,essv2506908 M 157 2 0 Samples from several populations that are part of the HapMap project. CXorf30 NA19093,NA19102 esv2522641 X 36384707 36386827 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5169322 S 1 0 1 "" NA18507 esv2144032 X 36385399 36386660 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4567204 S 1 0 1 "" NA18507 esv259858 X 36403755 36412287 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395433 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18948 nsv829366 X 36404180 36411981 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1431864 S 31 1 0 "" NA18947 nsv515722 X 36532076 36536905 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663349,nssv662351,nssv676902,nssv664559,nssv660112 M 2026 0 5 "" nsv518994 X 36589174 36598667 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696461 S 2026 1 0 "" nsv520640 X 36592576 36598667 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv681681,nssv673428 M 2026 2 0 "" esv8032 X 36652970 36653267 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30473 S 1 0 1 "" SJK esv2567302 X 36756899 36758409 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383030 S 1 0 1 "" NA18507 nsv6861 X 36765363 36799097 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5209 S 9 1 0 "" NA19129 nsv6862 X 36814512 36847347 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv859 S 9 1 0 "" NA19240 nsv425353 X 36912745 36912955 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443931 M 24 "" esv2532015 X 36940524 36945006 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255853 S 1 0 1 "" NA18507 esv2064779 X 36941064 36944534 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4985325 S 1 0 1 "" NA18507 esv22239 X 36941155 36944309 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10614 S 451 0 6 "" NA18511,NA18907,NA19099,NA19114,NA19147,NA19190 esv2542652 X 36975419 36978439 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5277810 S 1 0 1 "" NA18507 esv2132375 X 36975948 36977938 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4654199 S 1 0 1 "" NA18507 nsv425409 X 36976059 36977745 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443987 M 24 "" nsv6863 X 37062838 37095842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6321 S 9 1 0 PRRG1 NA12156 esv1007820 X 37222370 37229247 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586078 S 3 1 0 "" HuRef esv28598 X 37222645 37228898 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16447 S 451 1 0 "" NA12287 nsv819454 X 37483184 37495184 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418625 S 2 1 0 "" AK1 nsv515194 X 37570096 37594384 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628385 S 1414 0 1 DYNLT3 esv2752323 X 37674857 37860989 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6982411,essv6982410 M 771 1 0 CXorf27,SYTL5 BEC_437 nsv518029 X 37674926 37882958 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695439 S 2026 1 0 CXorf27,SYTL5 nsv6864 X 37676100 37698302 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8708 S 9 0 1 "" NA12156 nsv519012 X 37720112 37797219 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696480 S 2026 1 0 CXorf27,SYTL5 nsv424909 X 37735970 37739565 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443487 M 24 "" nsv6866 X 37873991 37926141 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1830,nssv8709 M 9 0 2 SRPX NA12156,NA18555 nsv515195 X 37880212 37881952 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628386 S 1414 1 0 "" nsv525751 X 37907201 37913470 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701918 S 2026 1 0 SRPX dgv510n21 X 38001666 38062911 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv520388,nsv520298 M 2026 2 0 RPGR nsv516365 X 38007851 38017572 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667785,nssv678629 M 2026 2 0 RPGR nsv522957 X 38007934 38025786 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698626 S 2026 1 0 RPGR nsv6867 X 38163240 38194428 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11212 S 9 1 0 OTC NA15510 esv32678 X 38268173 38268316 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94707,essv97376 M 51 0 2 "" 21791,21879 nsv512673 X 38270430 38272381 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625293 S 1 0 1 "" 1 esv2633818 X 38271110 38273396 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5212640 S 1 0 1 "" NA18507 esv2058646 X 38271269 38272472 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4674280 S 1 0 1 "" NA18507 dgv1252n67 X 38271282 38272332 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829367,nsv829369,nsv829368 M 31 0 15 "" AK10,AK12,AK14,AK6,NA18526,NA18542,NA18547,NA18552,NA18592,NA18942,NA18947,NA18968,NA18972,NA18973,NA18999 nsv821394 X 38271282 38272332 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420193 S 1 0 1 "" NA10851 esv5175 X 38271395 38272338 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27616 S 1 0 1 Single Asian sample YH "" YH esv27880 X 38271489 38272316 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13721 S 451 10 12 "" NA07045,NA11894,NA11931,NA11995,NA12044,NA12414,NA12749,NA12776,NA12828,NA15510,NA18508,NA18511,NA18858,NA18907,NA18909,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240 esv33331 X 38271511 38272233 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94807,essv97386,essv92778,essv95965,essv93483,essv99496 M 51 0 6 "" 21791,21879,21944,22127,22128,22335 esv33197 X 38277254 38278209 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99270 S 51 0 1 "" 22275 esv33240 X 38283296 38283751 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97286,essv92789,essv93456 M 51 0 3 "" 21879,21944,22128 nsv520210 X 38375788 38541601 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685749,nssv661891 M 2026 2 0 TSPAN7 nsv510827 X 38453083 38476049 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622628,nssv620035 M 4 0 2 "" NA15510,NA18994 nsv202 X 38464869 38496052 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv202 S 1 0 1 "" NA15510 nsv6868 X 38464869 38503920 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1831,nssv11213 M 9 0 2 "" NA15510,NA18555 nsv819944 X 38468689 38475348 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419787 S 2 0 1 "" AK1 nsv9937 X 38468690 38475350 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26137,nssv23413,nssv25585,nssv26265 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA07048,NA18563,NA18572,NA19007 nsv499117 X 38469151 38473438 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586128 S 9 0 1 "" esv7972 X 38469310 38473439 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30413 S 1 0 1 "" SJK esv23555 X 38469325 38472310 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16956 S 451 0 3 "" NA11931,NA12006,NA15510 nsv424979 X 38704312 38704380 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443557 M 24 "" esv1592342 X 38842000 38842000 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858778 S 2 1 0 "" HuRef nsv6869 X 38860584 38891888 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3777 S 9 1 0 "" NA12878 nsv519630 X 38943649 38953543 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694338 S 2026 1 0 "" nsv517716 X 38965434 38992230 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652951,nssv664211,nssv658584 M 2026 3 0 "" nsv522678 X 39174015 39177643 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706086 S 2026 1 0 "" nsv6870 X 39385380 39393503 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8710 S 9 1 0 "" NA12156 nsv521450 X 39399430 39567937 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698061 S 2026 1 0 "" esv28067 X 39432795 39433686 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10919 S 451 0 1 "" NA11993 esv1689069 X 39520859 39521107 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186071 S 2 0 1 "" HuRef esv24762 X 39526543 39549263 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10504 S 451 1 0 "" NA06985 dgv511n21 X 39530082 39547112 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527373,nsv518902 M 2026 2 0 "" nsv818023 X 39530082 39552572 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1418337,nssv1418326 M 112 2 0 "" NA06985,NA06991 esv32834 X 39557908 39658691 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100876,essv100968,essv95084,essv96630,essv99982,essv98105,essv99257 M 51 0 7 "" 21656,21693,21721,22011,22086,22259,22275 nsv436634 X 39579391 39584354 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465796 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv510828 X 39702080 39759770 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622629 S 4 0 1 "" NA18994 nsv513603 X 39792156 39792499 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626855 S 1 1 0 "" 1 esv21995 X 39834199 39854559 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10637,esv18627 M 451 1 2 BCOR NA11993,NA18511,NA19108 esv33829 X 39861571 40436512 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99512 S 51 0 1 ATP6AP2,BCOR,CXorf38,LOC347411,MED14 22335 nsv508762 X 40188919 40303036 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619584 S 4 1 0 "" NA10860 nsv6871 X 40198885 40243671 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5210 S 9 0 1 "" NA19129 nsv470350 X 40284240 40368899 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547037 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations ATP6AP2,LOC347411 HGDP00625 esv2180447 X 40286250 40286705 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4507752 S 1 0 1 "" NA18507 nsv518965 X 40313446 40498239 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696434 S 2026 1 0 ATP6AP2,CXorf38,LOC347411,MED14 esv2584867 X 40345861 40347624 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5300645 S 1 0 1 ATP6AP2 NA18507 esv1934490 X 40346035 40346894 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4798039 S 1 0 1 ATP6AP2 NA18507 esv2550325 X 40389692 40391266 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5196795 S 1 0 1 CXorf38 NA18507 esv5571 X 40390142 40390448 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28012 S 1 0 1 CXorf38 SJK nsv525223 X 40409117 40498239 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701311 S 2026 1 0 MED14 nsv524055 X 40555923 40646590 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699921 S 2026 1 0 LOC100132831 nsv6872 X 40599709 40638397 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5211,nssv8711 M 9 2 0 "" NA12156,NA19129 nsv510534 X 40629155 40635155 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624094 S 4 0 1 "" NA18994 dgv26e24 X 40629308 40630290 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH esv2750485,esv2750515 M 51 2 0 "" 21656,22261 esv33720 X 40635684 42901711 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100731 S 51 0 1 CASK,DDX3X,GPR34,GPR82,NYX,PPP1R2P9,USP9X 21656 esv2632941 X 40690910 40691551 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5350538 S 1 1 0 "" NA18507 nsv6873 X 40769227 40778063 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8712 S 9 0 1 "" NA12156 esv1983495 X 40804274 40807687 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4662418 S 1 0 1 "" NA18507 nsv507959 X 40808702 40814702 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620466 S 4 1 0 "" NA15510 esv2512599 X 40816742 40818620 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5322324 S 1 0 1 "" NA18507 esv2342892 X 40816884 40817907 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4775849 S 1 0 1 "" NA18507 dgv512n21 X 40849071 41013437 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522594,nsv516661 M 2026 11 0 USP9X nsv6874 X 40947435 40981290 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8713 S 9 1 0 USP9X NA12156 nsv510829 X 40981610 41038123 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622630 S 4 0 1 "" NA18994 nsv508763 X 41160156 41275806 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619585,nssv620943 M 4 2 0 CASK,NYX NA10860,NA15510 nsv510535 X 41172995 41178995 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622195,nssv624095 M 4 0 2 "" NA10860,NA18994 esv25432 X 41217785 41219135 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10304 S 451 0 1 NYX NA11993 esv27628 X 41229392 41230542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20948 S 451 0 1 "" NA12749 esv1516036 X 41251233 41251233 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324883 S 2 1 0 "" HuRef nsv523134 X 41344664 41661686 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698839 S 2026 1 0 CASK,GPR34,GPR82 nsv6875 X 41476428 41480508 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5212 S 9 1 0 CASK NA19129 esv1007793 X 41491846 41500126 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565509 S 3 0 1 CASK HuRef nsv511083 X 41898688 41998766 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622394 S 4 0 0 "" NA10860 nsv507960 X 41990148 41996148 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617968 S 4 1 0 "" CHM esv1192919 X 42218246 42218246 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282480 S 2 1 0 "" HuRef esv1654974 X 42397234 42398816 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3714357 S 2 0 1 "" HuRef nsv510830 X 42479241 42561660 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622631 S 4 0 1 PPP1R2P9 NA18994 nsv6877 X 42692367 42726915 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2829 S 9 1 0 "" NA18555 nsv6878 X 42870355 42916104 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6322 S 9 0 1 "" NA12156 nsv517077 X 42914453 43257828 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv692981,nssv682761,nssv682192,nssv659346,nssv689478,nssv667957,nssv691764,nssv675660,nssv666143,nssv690250,nssv653740,nssv692237,nssv678039,nssv676366 M 2026 14 0 "" esv270081 X 42975067 42975211 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512520,essv2505902,essv2504671 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18861,NA19099 esv991655 X 43021376 43029727 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587066 S 3 1 0 "" HuRef nsv6879 X 43243467 43276601 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8714 S 9 1 0 "" NA12156 nsv527045 X 43287667 43378133 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703421 S 2026 1 0 "" nsv517873 X 43289771 43423153 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695279 S 2026 1 0 MAOA esv21483 X 43457128 43470660 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11300,esv15847 M 451 2 0 MAOA NA12044,NA12828 esv989106 X 43772498 43772498 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580835 S 3 1 0 "" HuRef esv1124906 X 43772569 43772569 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4347599 S 2 1 0 "" HuRef nsv527697 X 43799636 43829657 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704175 S 2026 1 0 "" esv25987 X 43829791 43832691 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12421,esv14704 M 451 0 6 "" NA18505,NA18517,NA18523,NA19099,NA19114,NA19225 esv32993 X 43865215 43871121 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv97162,essv100076 M 51 0 2 "" 22075,22086 esv33153 X 43878218 43878347 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99417 S 51 0 1 "" 22335 esv33270 X 44067877 44068863 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100640,essv97242,essv99894 M 51 3 0 EFHC2 21656,22075,22086 nsv6880 X 44144443 44189734 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8715 S 9 0 1 "" NA12156 esv990696 X 44182158 44190650 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565410 S 3 0 1 "" HuRef esv24090 X 44184767 44190713 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21032 S 451 5 0 "" NA11894,NA11993,NA11995,NA12287,NA12489 esv2538258 X 44233112 44233846 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5230271 S 1 1 0 "" NA18507 esv2192771 X 44275349 44275719 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4907027 S 1 0 1 FUNDC1 NA18507 dgv513n21 X 44277349 44484645 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527721,nsv527378 M 2026 2 0 FUNDC1 nsv424950 X 44296710 44296846 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443528 M 24 "" nsv520232 X 44306230 44319204 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697296 S 2026 0 1 "" esv1017201 X 44345898 44345950 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4196396 S 2 0 1 "" HuRef nsv6881 X 44401429 44430087 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1832 S 9 0 1 "" NA18555 nsv499571 X 44404454 44411648 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586129 S 9 0 1 "" nsv515197 X 44405580 44407920 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628387 S 1414 0 1 "" nsv508764 X 44419209 44491385 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620944 S 4 1 0 "" NA15510 nsv516286 X 44470051 44539899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv659650,nssv660814,nssv703300,nssv656083,nssv667336,nssv705455 M 2026 6 0 "" nsv6882 X 44476837 44504083 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10698 S 9 1 0 "" NA18956 esv1459092 X 44593304 44593860 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3932826 S 2 0 1 "" HuRef nsv508765 X 44884718 44926969 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620945 S 4 1 0 CXorf36 NA15510 nsv524833 X 44912417 44919064 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700834 S 2026 1 0 CXorf36 nsv521851 X 44954903 44974563 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694104 S 2026 1 0 "" nsv526364 X 44995576 45146098 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702658 S 2026 1 0 "" nsv519486 X 45010447 45146098 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656380,nssv699234,nssv681812,nssv685890,nssv695715,nssv685137 M 2026 5 1 "" esv2220062 X 45178872 45179281 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514342 S 1 0 1 "" NA18507 esv1365204 X 45179067 45179128 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3793799 S 2 0 1 "" HuRef nsv522479 X 45189474 45259478 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705845 S 2026 1 0 "" esv268551 X 45203793 45203878 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514526,essv2516676,essv2517106 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11840,NA11881,NA11931 esv1503224 X 45203828 45203828 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701718 S 2 1 0 "" HuRef nsv523785 X 45222263 45295575 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699611 S 2026 1 0 "" nsv7439 X 45392748 45475100 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10699,nssv3778 M 9 0 0 "" NA12878,NA18956 esv2615382 X 45431978 45437068 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370407 S 1 0 0 "" NA18507 nsv435968 X 45432055 45433454 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465797 S 2 0 0 "" NA15510 nsv513720 X 45432106 45435429 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626972 S 1 0 0 "" 1 esv1009090 X 45432318 45437526 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564990 S 3 0 0 "" HuRef nsv499757 X 45433184 45436827 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585576 S 9 0 0 "" esv1514918 X 45433293 45435559 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3854098 S 2 0 0 "" HuRef nsv513721 X 45433488 45436979 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626973 S 1 0 0 "" 1 nsv436720 X 45434485 45437272 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465799 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1005176 X 45465386 45465386 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3580951 S 3 1 0 "" HuRef esv1406515 X 45465454 45465454 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4185095 S 2 1 0 "" HuRef esv2608297 X 45471657 45473329 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5389203 S 1 0 1 "" NA18507 esv2138101 X 45472297 45473002 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4828988 S 1 0 1 "" NA18507 esv1176165 X 45472518 45472825 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038961 S 2 0 1 "" HuRef esv1249744 X 45481166 45481166 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3975327 S 2 1 0 "" HuRef nsv526411 X 45555349 46220763 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702711 S 2026 1 0 ZNF673 esv2251517 X 45580424 45580975 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4756459 S 1 0 1 "" NA18507 nsv6883 X 45609723 45629063 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8716 S 9 1 0 "" NA12156 nsv523008 X 45895517 45962891 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698680 S 2026 1 0 "" nsv425474 X 46061508 46061508 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444052 M 24 "" esv1289837 X 46129162 46129162 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3892494 S 2 1 0 "" HuRef esv25002 X 46317952 46319818 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17202 S 451 0 1 CHST7 NA11993 nsv6884 X 46345750 46378671 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5215 S 9 1 0 SLC9A7 NA19129 nsv6885 X 46392929 46437940 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8717 S 9 0 1 SLC9A7 NA12156 nsv818024 X 46653913 46795054 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417802 S 112 1 0 PHF16 NA12234 nsv7440 X 46653968 46756755 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1833,nssv5217,nssv9776,nssv860,nssv6323,nssv3780,nssv9927,nssv10700,nssv9479,nssv9480,nssv3779,nssv11214,nssv10701,nssv5216,nssv1834,nssv6324,nssv861 M 9 0 0 PHF16 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 esv22153 X 46656528 46657771 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21248 S 451 0 1 PHF16 NA11993 nsv203 X 46673363 46696814 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv203 S 1 0 0 PHF16 NA15510 dgv139n16 X 46694985 46714070 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436689,nsv435969 M 2 0 0 PHF16 NA15510,NA18505 dgv62n50 X 46695498 46716243 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513722,nsv513723 M 1 0 0 PHF16 1 esv1006962 X 46695516 46716726 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565437 S 3 0 0 PHF16 HuRef esv2427673 X 46695609 46716144 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5181113 S 1 0 0 PHF16 NA18507 dgv61n47 X 46695637 46715732 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499499,nsv499727 M 9 0 0 PHF16 esv1121377 X 46695748 46715632 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4075882 S 2 0 0 PHF16 HuRef nsv508766 X 46707047 46729434 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623584 S 4 1 0 PHF16 NA18994 nsv508767 X 46804619 46834532 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619586 S 4 1 0 PHF16,RGN NA10860 nsv513604 X 46833616 46834147 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626856 S 1 1 0 RGN 1 esv1734378 X 46835257 46835257 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4207988 S 2 1 0 RGN HuRef nsv6886 X 46911994 46920321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8718 S 9 0 1 RBM10 NA12156 esv988260 X 46978110 46978162 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3574732 S 3 0 1 USP11 HuRef esv1746874 X 46978111 46978164 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4135548 S 2 0 1 USP11 HuRef nsv507961 X 47016640 47022640 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620467,nssv621958 M 4 2 0 "" NA10860,NA15510 esv273364 X 47068770 47068986 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580544,essv2579230,essv2579751 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv438130 X 47371502 47373937 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470158,nssv470160,nssv470161,nssv470159 M 269 0 4 Samples from several populations that are part of the HapMap project. CFP NA18500,NA18502,NA19221,NA19223 nsv6888 X 47432417 47465195 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6325 S 9 1 0 CXXC1P1 NA12156 nsv6889 X 47468143 47502030 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2831,nssv9481 M 9 2 0 CXXC1P1 NA18517,NA18555 esv27279 X 47468919 47469759 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18785 S 451 1 0 CXXC1P1 NA12044 esv2545209 X 47594585 47596092 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5278619 S 1 0 1 ZNF81 NA18507 dgv2442e1 X 47651854 48031654 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16424,esv650,essv17330,essv9730,essv5393 M 271 0 0 LOC100509575,SPACA5,SPACA5B,SSX1,SSX5,SSX6,ZNF182,ZNF630,ZNF81 NA18563,NA18856,NA18913,NA19139 esv271510 X 47656170 47656490 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512629,essv2504156,essv2493776,essv2509035,essv2498859 M 157 5 0 Samples from several populations that are part of the HapMap project. ZNF81 NA18489,NA18505,NA18517,NA18522,NA19138 esv8782 X 47702049 47772918 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31223 S 1 0 0 SPACA5,SPACA5B,ZNF182 SJK dgv2443e1 X 47703768 47889118 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12060,essv14899,essv2422,essv8979,essv9283,essv11377,essv7968,essv14228,essv23168 M 271 0 0 LOC100509575,SPACA5,SPACA5B,SSX6,ZNF182,ZNF630 NA10831,NA18913,NA18951,NA19127,NA19129,NA19137,NA19139,NA19238,NA19240 nsv6890 X 47712636 47912562 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv863,nssv5218 M 9 0 2 LOC100509575,SPACA5,SPACA5B,SSX6,ZNF182,ZNF630 NA19129,NA19240 esv1518419 X 47715825 47715825 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4241620 S 2 1 0 "" HuRef esv1514024 X 47715951 47715951 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4338169 S 2 1 0 "" HuRef esv1217860 X 47716063 47716063 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786647 S 2 1 0 "" HuRef dgv14n29 X 47720835 47958314 CNV Complex Locke et al 2006 16826518 BAC_aCGH nsv469869,nsv469888 M 265 3 2 LOC100509575,SPACA5,SPACA5B,SSX5,SSX6,ZNF182,ZNF630 nsv471601 X 47720836 47958314 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv551176,nssv551092,nssv551090,nssv551095,nssv551094,nssv551178,nssv551104,nssv551097,nssv551182,nssv551168,nssv551177,nssv551174,nssv551101,nssv551100,nssv551179,nssv551109,nssv551103,nssv551185,nssv551108,nssv551096,nssv551187,nssv551106,nssv551183,nssv551184,nssv551091,nssv551105,nssv551173,nssv551181,nssv551170,nssv551110,nssv551171,nssv551107,nssv551102,nssv551188,nssv551186,nssv551180,nssv551175,nssv551093,nssv551098,nssv551099,nssv551169,nssv551172 M 48 21 0 LOC100509575,SPACA5,SPACA5B,SSX5,SSX6,ZNF182,ZNF630 JK1058,NA10471,NA10472,NA10473,NA10493,NA10496,NA10967,NA10979,NA11323,NA11521,NA11523,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA17051,NA17052,NA17058,NA17059 nsv522886 X 47722804 47806615 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698542 S 2026 1 0 SPACA5,SPACA5B,ZNF182,ZNF630 dgv2444e1 X 47738828 47954166 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv18493,essv13379 M 271 0 0 LOC100509575,SPACA5,SPACA5B,SSX5,SSX6,ZNF182,ZNF630 NA12156,NA19159 esv2752324 X 47738828 48056984 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6987426,essv6983815 M 771 1 0 LOC100509575,SPACA5,SPACA5B,SSX1,SSX5,SSX6,ZNF182,ZNF630 BEC_629 esv25781 X 47747588 48186709 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13084,esv17364,esv11928 M 451 6 0 LOC100509575,SPACA5,SPACA5B,SSX1,SSX3,SSX4,SSX4B,SSX5,SSX6,ZNF182,ZNF630 NA06985,NA12156,NA12287,NA19129,NA19190,NA19240 esv32909 X 47747717 49029052 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100788,essv101014,essv97275,essv99915 M 51 2 2 CACNA1F,CCDC120,CCDC22,EBP,ERAS,FOXP3,FTSJ1,GATA1,GLOD5,GPKOW,GRIPAP1,HDAC6,KCND1,LOC100509575,MAGIX,OTUD5,PCSK1N,PIM2,PLP2,PORCN,PPP1R3F,PQBP1,PRAF2,PRICKLE3,RBM3,SLC35A2,SLC38A5,SPACA5,SPACA5B,SSX1,SSX3,SSX4,SSX4B,SSX5,SSX6,SUV39H1,SYP,TBC1D25,TFE3,TIMM17B,WAS,WDR13,WDR45,ZNF182,ZNF630 21656,21693,22075,22086 nsv515198 X 47748660 47754072 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628388 S 1414 1 0 SPACA5,SPACA5B nsv9938 X 47751449 47756737 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26156 S 31 1 0 Samples from several populations that are part of the HapMap project. SPACA5,SPACA5B NA18563 dgv2445e1 X 47756214 47855671 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11486,essv6213 M 271 0 0 LOC100509575,SSX6,ZNF630 NA18563,NA18856 nsv425407 X 47756407 47757021 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443985 M 24 "" dgv37n14 X 47756719 47898065 CNV Gain Cooper et al 2008 18776910 SNP_array nsv433460,nsv433461,nsv433459 M 9 3 0 LOC100509575,SPACA5,SPACA5B,SSX6,ZNF630 NA12156,NA19129,NA19240 nsv9939 X 47758073 47772328 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26205 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv6891 X 47764874 47798844 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8719 S 9 1 0 "" NA12156 nsv442804 X 47765101 47865818 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 LOC100509575,SSX6,ZNF630 nsv515199 X 47765604 47835024 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628389 S 1414 0 0 ZNF630 nsv438131 X 47768260 47867395 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470162 S 269 0 1 Samples from several populations that are part of the HapMap project. LOC100509575,SSX6,ZNF630 NA18856 nsv470351 X 47771235 47852586 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547038 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100509575,SSX6,ZNF630 HGDP01255 nsv470352 X 47771235 47852586 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547039,nssv547040 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LOC100509575,SSX6,ZNF630 HGDP00575,HGDP00613 nsv818025 X 47771235 47852586 CNV Gain+Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416900,nssv1417759,nssv1416422,nssv1416901 M 112 2 2 LOC100509575,SSX6,ZNF630 NA18856,NA18951,NA19238,NA19240 nsv517350 X 47771235 47948720 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675807,nssv657289,nssv659911,nssv694514,nssv671958,nssv660949,nssv666444,nssv656156,nssv666331,nssv683792,nssv673817,nssv688499,nssv661035,nssv658369,nssv684897,nssv689301,nssv705846,nssv662067,nssv677334,nssv669207,nssv686753,nssv665196,nssv675191,nssv662975,nssv688540,nssv654657,nssv656738,nssv682617,nssv666843,nssv692141,nssv685235,nssv680255,nssv651801,nssv666579,nssv658085,nssv692574,nssv664666,nssv690490,nssv673217,nssv690173 M 2026 15 25 LOC100509575,SPACA5,SPACA5B,SSX5,SSX6,ZNF630 nsv519165 X 47771235 48002707 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696648 S 2026 0 1 LOC100509575,SPACA5,SPACA5B,SSX1,SSX5,SSX6,ZNF630 dgv268e55 X 47771890 47855690 CNV Loss Pinto_et_al_2007 17911159 SNP_array esv2752327,esv2752325,esv2752326 M 771 0 3 LOC100509575,SSX6,ZNF630 BEC_27,SPC_165,SPC_76 esv34932 X 47771940 47855671 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980006,essv6980005 M 771 1 0 LOC100509575,SSX6,ZNF630 NA18913 esv34308 X 47771940 47908385 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6980877,essv6980876 M 771 1 0 LOC100509575,SPACA5,SPACA5B,SSX6,ZNF630 NA19139 nsv9940 X 47775920 47854082 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26841,nssv26224 M 31 2 0 Samples from several populations that are part of the HapMap project. LOC100509575,SSX6,ZNF630 NA18563,NA19144 nsv521227 X 47796815 47980090 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697857 S 2026 1 0 LOC100509575,SPACA5,SPACA5B,SSX5,SSX6,ZNF630 nsv6892 X 47857499 47890694 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3782 S 9 1 0 LOC100509575,SPACA5,SPACA5B,SSX6 NA12878 nsv9941 X 47860800 47863799 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26243 S 31 1 0 Samples from several populations that are part of the HapMap project. SSX6 NA18563 nsv515200 X 47875812 47881616 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628390 S 1414 0 0 SPACA5,SPACA5B nsv9942 X 47877329 47889565 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26261 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18563 nsv523595 X 47948720 48104013 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699387 S 2026 1 0 SSX1,SSX3 nsv512674 X 47976355 47978245 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625294 S 1 0 1 "" 1 esv2523241 X 47976433 47978849 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5288054 S 1 0 1 "" NA18507 nsv519305 X 47980090 48039372 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696778 S 2026 1 0 SSX1 nsv508769 X 48056057 48107116 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623585 S 4 1 0 SSX3 NA18994 nsv7441 X 48087689 48177927 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5219,nssv5220,nssv6326,nssv864 M 9 0 0 SSX3,SSX4,SSX4B NA12156,NA19129,NA19240 nsv528292 X 48176609 49017775 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704866 S 2026 1 0 CACNA1F,CCDC120,CCDC22,EBP,ERAS,FOXP3,FTSJ1,GATA1,GLOD5,GPKOW,GRIPAP1,HDAC6,KCND1,MAGIX,OTUD5,PCSK1N,PIM2,PLP2,PORCN,PPP1R3F,PQBP1,PRAF2,PRICKLE3,RBM3,SLC35A2,SLC38A5,SUV39H1,SYP,TBC1D25,TFE3,TIMM17B,WAS,WDR13,WDR45 esv267622 X 48203832 48203917 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514784 S 157 1 0 Samples from several populations that are part of the HapMap project. SLC38A5 NA12234 esv27342 X 48276372 48278313 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18733 S 451 1 0 "" NA12044 esv29760 X 48317386 48318043 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11650 S 451 1 0 RBM3 NA19225 nsv6893 X 48521632 48553498 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10702 S 9 1 0 GATA1,HDAC6 NA18956 esv28934 X 48530175 48531000 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20030 S 451 1 0 GATA1 NA12044 nsv513605 X 48627471 48628416 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626857 S 1 1 0 "" 1 nsv6894 X 48647810 48680054 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3783 S 9 1 0 OTUD5,PIM2,SLC35A2 NA12878 nsv513606 X 48706985 48707753 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626858 S 1 1 0 KCND1 1 esv990046 X 48769784 48776350 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564334 S 3 0 1 TFE3 HuRef nsv512675 X 48771585 48775875 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625295 S 1 0 1 TFE3 1 nsv435889 X 48773134 48777870 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465802 S 2 0 1 TFE3 NA15510 esv24155 X 48791894 48799371 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10346 S 451 1 0 "" NA12044 esv28729 X 48828828 48829978 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19422 S 451 0 1 WDR45 NA18909 esv1526582 X 48858823 48858823 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886481 S 2 1 0 GPKOW HuRef nsv7442 X 48863143 48949325 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6327,nssv5221,nssv10703,nssv11215,nssv3784,nssv10704,nssv11216,nssv865 M 9 0 0 CACNA1F,GPKOW,MAGIX,PLP2,PRICKLE3,SYP NA12156,NA12878,NA15510,NA18956,NA19129,NA19240 nsv204 X 48864631 48903657 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv204 S 1 0 0 GPKOW NA15510 esv2555036 X 48900054 48906706 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5235645 S 1 0 0 MAGIX NA18507 dgv62n47 X 48900143 48906662 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499657,nsv499483 M 9 0 0 MAGIX esv994583 X 48900420 48907185 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564093 S 3 0 0 MAGIX HuRef esv1091998 X 48900567 48906237 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970109 S 2 0 0 MAGIX HuRef dgv63n50 X 48900581 48906291 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv513724,nsv513725 M 1 0 0 MAGIX 1 nsv435993 X 48901626 48907753 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465803 S 2 0 0 MAGIX NA15510 nsv436719 X 48903902 48907320 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465804 S 2 0 0 Samples from several populations that are part of the HapMap project. MAGIX NA18505 nsv205 X 48904576 48947105 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv205 S 1 0 0 MAGIX,PLP2,PRICKLE3,SYP NA15510 nsv469734 X 48948545 49063684 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649755 M 265 8 1 Samples from several populations that are part of the HapMap project. CACNA1F,CCDC22,FOXP3,GAGE10,PPP1R3F nsv471602 X 48948546 49063684 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550298,nssv550302,nssv550299,nssv550285,nssv550314,nssv550303,nssv550286,nssv550293,nssv550297,nssv550307,nssv550305,nssv550287,nssv550290,nssv550312,nssv550292,nssv550288,nssv550300,nssv550294,nssv550310,nssv550304,nssv550311,nssv550309,nssv550306,nssv550296,nssv550301,nssv550284,nssv550308,nssv550295,nssv550315,nssv550313,nssv550291,nssv550283,nssv550289 M 48 33 0 CACNA1F,CCDC22,FOXP3,GAGE10,PPP1R3F JK1058,JK1061,NA10470,NA10471,NA10472,NA10473,NA10493,NA10494,NA10495,NA10496,NA10967,NA10970,NA10971,NA10979,NA11323,NA11521,NA11523,NA11776,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17015,NA17017,NA17051,NA17052,NA17058,NA17059,P86GA nsv6895 X 48970725 49006091 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3785 S 9 1 0 CACNA1F,CCDC22,FOXP3 NA12878 esv21578 X 48995227 48996537 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16332 S 451 1 0 FOXP3 NA12044 esv24944 X 49035554 49129879 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15724 S 451 12 4 GAGE10,GAGE12F,GAGE12I,GAGE12J,GAGE13,GAGE2A,GAGE2B,GAGE2C,GAGE2D,GAGE2E,GAGE4,GAGE5,GAGE7,GAGE8 NA11894,NA12006,NA12287,NA12414,NA15510,NA18502,NA18511,NA18517,NA18858,NA18861,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 nsv821250 X 49060390 49129879 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420194 S 1 0 1 GAGE10,GAGE12F,GAGE12I,GAGE12J,GAGE13,GAGE2A,GAGE2B,GAGE2C,GAGE2D,GAGE2E,GAGE4,GAGE5,GAGE7,GAGE8 NA10851 nsv6896 X 49061708 49071263 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6328,nssv5222,nssv866,nssv9482,nssv867,nssv10705 M 9 5 0 GAGE10,GAGE12J NA12156,NA18517,NA18956,NA19129,NA19240 nsv515201 X 49062532 49070688 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627211 S 1414 0 0 GAGE10,GAGE12J nsv6897 X 49071901 49076737 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10706,nssv868,nssv1836 M 9 3 0 GAGE12J,GAGE13,GAGE2E,GAGE8 NA18555,NA18956,NA19240 nsv515202 X 49075528 49076288 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627212 S 1414 0 0 GAGE13,GAGE2E,GAGE8 nsv820429 X 49180859 49256800 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420195 S 1 0 1 GAGE1,GAGE12B,GAGE12C,GAGE12D,GAGE12E,GAGE12F,GAGE12G,GAGE12H,GAGE12I,GAGE2A,GAGE2C,GAGE2E,GAGE6,GAGE8 NA10851 esv28941 X 49180859 49268876 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15384 S 451 12 4 GAGE1,GAGE12B,GAGE12C,GAGE12D,GAGE12E,GAGE12F,GAGE12G,GAGE12H,GAGE12I,GAGE2A,GAGE2C,GAGE2E,GAGE6,GAGE8 NA11894,NA12006,NA12287,NA12414,NA15510,NA18502,NA18511,NA18517,NA18858,NA18861,NA19108,NA19129,NA19190,NA19225,NA19240,NA19257 nsv6899 X 49232581 49264232 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5223,nssv3786,nssv10707,nssv869,nssv3787 M 9 4 0 GAGE1,GAGE12C,GAGE12D,GAGE12E,GAGE12H,GAGE2A NA12878,NA18956,NA19129,NA19240 nsv6900 X 49233167 49256620 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6329,nssv5224 M 9 0 2 GAGE1,GAGE12C,GAGE12D,GAGE12E,GAGE12H,GAGE2A NA12156,NA19129 nsv515203 X 49233536 49262692 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627213 S 1414 0 0 GAGE1,GAGE12C,GAGE12D,GAGE12E,GAGE12H,GAGE2A esv272415 X 49268889 49274144 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581266 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv27820 X 49268946 49271556 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18059 S 451 0 5 "" NA18502,NA18523,NA18861,NA19190,NA19240 esv270725 X 49298711 49299057 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512488,essv2494742,essv2513240,essv2507433,essv2501283 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18519,NA18907,NA18912,NA19093 nsv6901 X 49339695 49369164 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5225 S 9 1 0 PAGE1 NA19129 esv1069714 X 49341313 49341313 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4118262 S 2 1 0 PAGE1 HuRef nsv524056 X 49351410 49401741 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699922 S 2026 1 0 "" nsv6902 X 49529945 49563686 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8720 S 9 1 0 LOC158572,USP27X NA12156 nsv6903 X 49536808 49553977 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8721 S 9 0 1 "" NA12156 esv33289 X 49570001 49647600 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100629 S 51 0 1 CLCN5 21656 nsv508770 X 49683021 49709800 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619587,nssv620946 M 4 2 0 CLCN5 NA10860,NA15510 esv272421 X 49759661 49759746 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581329 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv6904 X 49795241 49825681 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6330 S 9 1 0 "" NA12156 nsv513763 X 49858237 49860715 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627015 S 1 1 0 "" 1 nsv508771 X 50079036 50185566 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620947 S 4 1 0 CCNB3,DGKK NA15510 nsv523598 X 50208331 50328433 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699390 S 2026 1 0 DGKK nsv527767 X 50375828 50395815 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704256 S 2026 1 0 SHROOM4 esv2351992 X 50377892 50378289 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4681613 S 1 0 1 SHROOM4 NA18507 esv1223545 X 50378017 50378093 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4353086 S 2 0 1 SHROOM4 HuRef nsv508772 X 50557747 50636961 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619588 S 4 1 0 SHROOM4 NA10860 nsv518265 X 50589208 50638236 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694220 S 2026 1 0 "" nsv510536 X 50640268 50646268 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622196 S 4 0 1 "" NA10860 esv1607380 X 50649189 50649239 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3593378 S 2 0 1 "" HuRef nsv6905 X 50726025 50765765 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8723 S 9 0 1 "" NA12156 esv1684062 X 50797036 50797036 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3900558 S 2 1 0 "" HuRef esv1203052 X 50808246 50808246 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010716 S 2 1 0 "" HuRef nsv471604 X 51176055 51334789 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550529 S 48 1 0 NUDT11 NA10971 nsv524351 X 51214451 51258412 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700259 S 2026 1 0 NUDT11 esv2428807 X 51380530 51381945 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5271307 S 1 0 1 "" NA18507 esv1167784 X 51381163 51381296 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4295107 S 2 0 1 "" HuRef nsv7444 X 51412207 51509602 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1838,nssv10708,nssv9483,nssv1837,nssv870,nssv871 M 9 0 0 CENPVL1,GSPT2,LOC441495 NA18517,NA18555,NA18956,NA19240 esv1003997 X 51422435 51493257 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565474 S 3 0 0 CENPVL1,LOC441495 HuRef nsv499710 X 51442258 51485053 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585581 S 9 0 0 CENPVL1,LOC441495 esv1256572 X 51445467 51451530 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4355846 S 2 0 0 "" HuRef esv1164388 X 51456609 51460366 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4290672 S 2 0 0 "" HuRef nsv516643 X 51520353 52016710 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701185,nssv659516,nssv669824,nssv691092,nssv673939,nssv675395,nssv691257,nssv691741 M 2026 8 0 MAGED1,MAGED4,MAGED4B,SNORA11D,SNORA11E nsv6906 X 51566127 51610807 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8724 S 9 0 1 MAGED1 NA12156 esv269224 X 51710500 51710821 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2575951,essv2546220,essv2521281,essv2542398,essv2522746,essv2556769,essv2545375,essv2531797,essv2550336,essv2554261,essv2529213,essv2564556,essv2564235,essv2541250,essv2559844,essv2522220,essv2532598,essv2567930,essv2553158,essv2555650,essv2525654,essv2526941,essv2533366 M 157 23 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA11830,NA11881,NA11894,NA11919,NA11931,NA11994,NA12003,NA12006,NA12234,NA12287,NA12749,NA12751,NA12828,NA18545,NA18570,NA18571,NA18576,NA18577,NA18605,NA18945,NA18980,NA19005 esv29848 X 52249031 52283521 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16293,esv10452,esv18721 M 451 2 2 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E NA12489,NA18511,NA19240,NA19257 esv1003754 X 52249115 52262084 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586447 S 3 0 1 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E HuRef esv991419 X 52270822 52282733 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586395 S 3 0 1 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E HuRef esv994563 X 52521897 52534868 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586662 S 3 0 1 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E HuRef esv28509 X 52521897 52569823 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17043,esv14829 M 451 3 2 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E NA11931,NA12004,NA12489,NA18511,NA19257 nsv7445 X 52534857 52596558 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5226 S 9 0 0 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E NA19129 esv1004613 X 52543707 52568599 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586657 S 3 0 1 XAGE1A,XAGE1B,XAGE1C,XAGE1D,XAGE1E HuRef esv1639793 X 52626586 52626586 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937041 S 2 1 0 "" HuRef esv21492 X 52640433 52848159 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20187 S 451 1 0 SPANXN5,SSX2,SSX2B,SSX7,SSX8 NA12287 nsv7446 X 52707638 52870781 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5227,nssv3788,nssv1839,nssv10710,nssv10709,nssv873 M 9 0 0 SPANXN5,SSX2,SSX2B,XAGE5 NA12878,NA18555,NA18956,NA19129,NA19240 nsv435891 X 52907733 55696471 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465805 S 2 0 1 ALAS2,APEX2,FAM104B,FAM120C,FAM156A,FAM156B,FGD1,FOXR2,GNL3L,GPR173,HSD17B10,HUWE1,IQSEC2,ITIH5L,KDM5C,MAGED2,MAGEH1,MIR4536,MIR98,MIRLET7F2,MTRNR2L10,PAGE2,PAGE2B,PAGE3,PAGE5,PFKFB1,PHF8,RIBC1,SMC1A,SNORA11,TRO,TSPYL2,TSR2,USP51,WNK3,XAGE3 NA15510 esv1766191 X 52919709 52924693 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3651326 S 2 0 0 "" HuRef nsv499358 X 52938858 53015401 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585582 S 9 0 0 FAM156A,FAM156B nsv7447 X 52942113 53044111 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10711,nssv3789,nssv6331 M 9 0 0 FAM156A,FAM156B NA12156,NA12878,NA18956 esv1368217 X 53071833 53072018 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002172 S 2 0 1 "" HuRef esv1667988 X 53072070 53072070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342429 S 2 1 0 "" HuRef nsv508773 X 53080315 53187317 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623587 S 4 1 0 GPR173,TSPYL2 NA18994 esv24544 X 53100475 53102585 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13382 S 451 3 0 GPR173 NA06985,NA11993,NA12044 esv1009949 X 53119495 53121708 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564728 S 3 1 0 GPR173 HuRef esv29245 X 53127232 53127946 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17434 S 451 1 0 "" NA12044 esv990828 X 53187556 53189240 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587038 S 3 1 0 "" HuRef nsv6907 X 53377644 53409757 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6332 S 9 1 0 "" NA12156 nsv508774 X 53379384 53398811 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619589,nssv620948 M 4 2 0 "" NA10860,NA15510 nsv6908 X 53456219 53490178 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8725 S 9 1 0 HSD17B10,RIBC1,SMC1A NA12156 nsv436637 X 53494342 53508866 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465806 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv23733 X 53496324 53507947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15745 S 451 0 1 "" NA18505 esv998156 X 53555788 53565299 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586065 S 3 1 0 "" HuRef esv28749 X 53557054 53564913 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20172 S 451 1 0 "" NA12287 nsv6910 X 53690664 53735457 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8726 S 9 0 1 HUWE1 NA12156 nsv6911 X 53778100 53799504 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5228 S 9 0 1 "" NA19129 esv28425 X 53789028 53794761 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20072 S 451 0 2 "" NA19129,NA19190 nsv515204 X 53793588 53794096 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628392 S 1414 0 1 "" nsv524220 X 53799131 53993113 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700108 S 2026 1 0 PHF8 nsv510832 X 53814962 53834365 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622633 S 4 0 1 "" NA18994 esv1772035 X 53868900 53870123 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3974644 S 2 0 0 "" HuRef esv2593250 X 54472068 54472505 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5329687 S 1 1 0 "" NA18507 nsv513607 X 54472233 54472470 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626859 S 1 1 0 "" 1 esv1351250 X 54472291 54472291 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4086123 S 2 1 0 "" HuRef nsv517375 X 54612976 54658152 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv651841,nssv694173,nssv670088,nssv685680,nssv674764,nssv673549,nssv680730,nssv668748,nssv664444,nssv657826,nssv673861,nssv682193,nssv694499,nssv670429,nssv672608,nssv675661 M 2026 16 0 "" esv987904 X 54912614 54918281 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564713 S 3 0 1 "" HuRef nsv508775 X 54920261 54943448 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619590 S 4 1 0 "" NA10860 esv997930 X 54933141 54933874 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564886 S 3 1 0 "" HuRef nsv507962 X 54951018 54957018 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620468,nssv621959,nssv617969 M 4 3 0 "" CHM,NA10860,NA15510 nsv6912 X 54997241 55042042 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8727 S 9 0 1 PFKFB1 NA12156 esv22332 X 55103478 55138630 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19730 S 451 1 0 PAGE2,PAGE2B NA19108 dgv49e194 X 55189274 55204332 CNV Deletion Bentley_et_al_2008 18987734 Sequencing esv2295153,esv2263886,esv2409223 M 1 0 1 FAM104B NA18507 dgv122e19 X 55189460 55204290 CNV Loss Ahn et al 2009 19470904 Sequencing esv8458,esv6551 M 1 0 1 FAM104B SJK nsv515205 X 55189488 55204152 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628393 S 1414 0 1 FAM104B esv3742 X 55194770 55203194 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26183 S 1 0 1 Single Asian sample YH FAM104B YH esv8730 X 55202389 55204288 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31171 S 1 0 1 FAM104B SJK esv1407536 X 55255742 55255806 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145821 S 2 0 1 "" HuRef nsv469510 X 55480562 55587639 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649531 M 265 0 0 Samples from several populations that are part of the HapMap project. MAGEH1,MIR4536,USP51 nsv7448 X 55480842 55590897 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9777,nssv10712,nssv9484,nssv6335,nssv10713 M 9 0 0 MAGEH1,MIR4536,USP51 NA12156,NA18507,NA18517,NA18956 nsv499493 X 55509753 55546123 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585583 S 9 0 0 USP51 nsv524155 X 55524824 55705899 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700034 S 2026 1 0 FOXR2,USP51 nsv6913 X 55599861 55633913 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv874 S 9 1 0 "" NA19240 esv270184 X 55601837 55606628 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510206,essv2500817,essv2506812,essv2511173,essv2500176,essv2502861,essv2495385,essv2510342,essv2495858,essv2502587,essv2505045,essv2501096,essv2508943,essv2498372,essv2497276,essv2513020,essv2506355,essv2511260,essv2500594,essv2500126,essv2507583,essv2512667,essv2508192,essv2508448,essv2498466,essv2493936,essv2513530,essv2504898,essv2503523,essv2502404,essv2493039,essv2505477,essv2500504,essv2495200,essv2502641,essv2500712,essv2501443,essv2504697,essv2506940,essv2506579,essv2499063,essv2510954,essv2493519,essv2497034,essv2512198,essv2501909,essv2498011,essv2502053,essv2495018,essv2499604 M 157 50 0 Samples from several populations that are part of the HapMap project. "" NA07051,NA07357,NA10851,NA11830,NA11918,NA11931,NA12006,NA12156,NA12287,NA12414,NA12489,NA12750,NA12828,NA18516,NA18522,NA18526,NA18545,NA18547,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18858,NA18871,NA18907,NA18942,NA18947,NA18948,NA18951,NA18952,NA18956,NA18964,NA18965,NA18973,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19137,NA19190,NA19238,NA19239,NA19240,NA19257 esv273751 X 55601842 55606607 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580993,essv2579293,essv2579644 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv508776 X 55638351 55711169 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618147,nssv619591,nssv623589,nssv623588 M 4 3 0 FOXR2 CHM,NA10860,NA18994 esv992659 X 55693939 55695679 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564370 S 3 1 0 "" HuRef esv1759999 X 55695684 55695684 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3833413 S 2 1 0 "" HuRef nsv511665 X 55703565 55754985 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626302 S 1 0 1 "" 1 nsv6914 X 55712269 55748081 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10714,nssv875 M 9 0 2 "" NA18956,NA19240 nsv512676 X 55718711 55728012 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625296 S 1 0 1 "" 1 esv23983 X 55718806 55723477 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12340,esv18250 M 451 1 1 "" NA11995,NA12489 nsv499285 X 55719104 55726532 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586130 S 9 0 1 "" nsv442805 X 55719384 55724281 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv6915 X 55974948 56006323 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10715 S 9 1 0 "" NA18956 esv2446265 X 56131318 56132939 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5369158 S 1 0 1 "" NA18507 nsv510537 X 56370701 56376701 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621370,nssv624096,nssv622197 M 4 0 3 "" NA10860,NA15510,NA18994 nsv524276 X 56386446 56460038 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700174 S 2026 0 1 "" nsv520834 X 56517373 56521685 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv676276,nssv690621 M 2026 2 0 "" nsv6916 X 56570620 56615479 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8728 S 9 0 1 UBQLN2 NA12156 nsv510538 X 56602949 56608949 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624097,nssv618475 M 4 0 2 UBQLN2 CHM,NA18994 nsv819102 X 56664615 56733741 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418755 S 2 0 1 "" AK1 esv27047 X 56672415 56689118 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19403,esv14410 M 451 0 6 "" NA18508,NA18517,NA18858,NA18861,NA19129,NA19190 nsv436636 X 56677295 56691305 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465807 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv442806 X 56678637 56689430 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515206 X 56685808 56688796 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627214 S 1414 0 0 "" dgv2446e1 X 56755794 56904473 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23532,essv21823,essv16025,essv12719,essv4032,essv2617,essv19750,essv5462,essv24283,essv24923,essv22912,essv1365,essv22032,essv23253,essv19601,essv15819,essv8941,essv11174,essv7428,essv3378,essv18334,essv12819,essv9183,essv22633,essv7797,essv5366,essv8606,essv9895,essv11813,essv24701,essv23513,essv4668,essv4257,essv6898,essv13708,essv14356,essv13470,essv22154,esv388,essv20937,essv9357,essv17425,essv6394,essv19219,essv23005,essv17349,essv10271,essv4869,essv9157,essv21704,essv9762,essv2848,essv3199,essv12544,essv12490,essv10091,essv17949,essv2323,essv1454,essv3169,essv13538,essv18934,essv19696,essv1970,essv20302,essv2225,essv3752,essv15408,essv3538,essv13776,essv2264,essv2672,essv3987,essv372,essv16744 M 271 0 0 LOC442454,LOC550643 NA06993,NA06994,NA07029,NA07034,NA10835,NA10838,NA10856,NA10857,NA11829,NA11839,NA11994,NA12003,NA12005,NA12043,NA12144,NA12154,NA12155,NA12248,NA12264,NA12752,NA12760,NA12801,NA12812,NA18501,NA18506,NA18521,NA18558,NA18561,NA18563,NA18572,NA18603,NA18605,NA18622,NA18623,NA18632,NA18635,NA18853,NA18856,NA18860,NA18863,NA18872,NA18914,NA18940,NA18944,NA18945,NA18953,NA18959,NA18960,NA18961,NA18965,NA18966,NA18967,NA18970,NA18971,NA18974,NA18990,NA19007,NA19012,NA19098,NA19119,NA19120,NA19128,NA19130,NA19145,NA19153,NA19160,NA19192,NA19194,NA19200,NA19203,NA19207,NA19211,NA19223,NA19239 nsv527262 X 56774956 56791551 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703668 S 2026 1 0 LOC442454,LOC550643 nsv510833 X 56782726 56858462 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622634 S 4 0 1 LOC550643 NA18994 nsv508777 X 56782726 56859890 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619592,nssv620950 M 4 2 0 LOC550643 NA10860,NA15510 nsv6917 X 56801896 56846924 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6336,nssv3791 M 9 0 2 LOC550643 NA12156,NA12878 nsv6918 X 56804964 56833133 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv876,nssv1840,nssv9485,nssv5229,nssv3792,nssv11217,nssv6337 M 9 7 0 LOC550643 NA12156,NA12878,NA15510,NA18517,NA18555,NA19129,NA19240 esv32659 X 56805783 56832289 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99506 S 51 0 1 LOC550643 22335 nsv206 X 56809114 56826001 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv206 S 1 1 0 LOC550643 NA15510 esv22149 X 56810826 56824643 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9771 S 451 15 12 LOC550643 NA06985,NA07045,NA11894,NA11931,NA11995,NA12004,NA12006,NA12044,NA12156,NA12414,NA12489,NA12776,NA12828,NA12878,NA18505,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19240,NA19257 nsv9944 X 56810834 56824723 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26283,nssv25608,nssv23441,nssv26279,nssv25008,nssv27437,nssv24983,nssv28218 M 31 7 0 Samples from several populations that are part of the HapMap project. LOC550643 NA07029,NA07048,NA12155,NA18563,NA18572,NA18860,NA19007 nsv515207 X 56810840 56816280 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627215 S 1414 0 0 LOC550643 esv1000400 X 56811366 56827457 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563718 S 3 1 0 LOC550643 HuRef nsv9945 X 56831694 56837177 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25631,nssv26300,nssv26296,nssv27445 M 31 4 0 Samples from several populations that are part of the HapMap project. LOC550643 NA07048,NA12155,NA18563,NA19007 esv259611 X 56845109 56846342 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394119,essv2393888 M 6 0 0 Samples from several populations that are part of the HapMap project. LOC550643 NA12878,NA12891 nsv517497 X 56968188 56968844 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652190,nssv655599,nssv669767,nssv662038 M 2026 0 4 "" nsv438132 X 56968188 56972761 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470164,nssv470165 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA19138 esv1105011 X 57052556 57052624 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3605001 S 2 0 1 "" HuRef esv33226 X 57165101 57177189 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99410 S 51 0 1 "" 22335 esv2138770 X 57212460 57212919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4515433 S 1 0 1 "" NA18507 dgv514n21 X 57421888 57945459 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv519013,nsv522078 M 2026 2 0 FAAH2,ZXDB nsv6919 X 57612550 57644677 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv877 S 9 1 0 ZXDB NA19240 esv22930 X 57617342 57634728 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15228 S 451 1 0 "" NA11993 dgv2447e1 X 57649098 57907133 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv14867,essv8729,essv15880,essv12545,essv13657,essv12791,essv8626,essv16941,esv455,essv10159,essv15395,essv13008,essv12280,essv16736,essv16865,essv14292,essv12675,essv16082,essv9893 M 271 0 0 "" NA18500,NA18501,NA18522,NA18859,NA18872,NA19092,NA19098,NA19101,NA19119,NA19120,NA19130,NA19144,NA19145,NA19194,NA19203,NA19205,NA19223,NA19239 nsv9947 X 57652508 57720029 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23179 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 nsv9948 X 57758458 57774668 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26923 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA19144 esv26696 X 57763104 57773338 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12788 S 451 9 0 "" NA18502,NA18508,NA18523,NA18907,NA18916,NA19099,NA19108,NA19114,NA19240 nsv6921 X 57764583 57766613 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv878 S 9 1 0 "" NA19240 esv994827 X 57775499 57776096 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587287 S 3 1 0 "" HuRef esv270996 X 57823139 57823952 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2557109,essv2552447,essv2569275,essv2527039,essv2561408,essv2543450,essv2556174,essv2528136,essv2562287,essv2534002,essv2529655,essv2575625,essv2575224,essv2526513,essv2572617,essv2545009,essv2571148,essv2545743,essv2574209,essv2551253 M 157 20 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18502,NA18508,NA18522,NA18523,NA18870,NA18871,NA18907,NA18909,NA18916,NA19093,NA19099,NA19102,NA19114,NA19143,NA19172,NA19238,NA19239,NA19240,NA19257 esv274031 X 57823152 57823940 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580538,essv2578964,essv2579745 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19239,NA19240 nsv6922 X 57866984 57901534 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3793 S 9 1 0 "" NA12878 nsv519471 X 57930410 57945459 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685922,nssv656297 M 2026 2 0 "" nsv518933 X 57930410 57959278 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696399 S 2026 1 0 ZXDA nsv520455 X 57959278 58022316 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv671620,nssv671990 M 2026 2 0 "" nsv6923 X 57985105 58026994 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6338 S 9 0 1 "" NA12156 nsv515208 X 58015848 58018052 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628394 S 1414 1 0 "" nsv829370 X 58068847 58098195 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423854 S 31 1 0 "" NA18547 nsv507963 X 58085249 58091249 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621960,nssv620469 M 4 2 0 "" NA10860,NA15510 nsv507964 X 58087801 58093801 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617970 S 4 1 0 "" CHM nsv513608 X 58088641 58089952 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626860 S 1 1 0 "" 1 nsv521794 X 58138149 58211376 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694565 S 2026 1 0 "" nsv818026 X 58138149 58363397 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417754 S 112 1 0 "" NA18547 nsv6924 X 58141154 58176296 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3794 S 9 1 0 "" NA12878 nsv438133 X 58212008 58216971 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470166 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18632 nsv6925 X 58280526 58325382 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8730 S 9 0 1 "" NA12156 esv1166572 X 58406992 58407164 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289032 S 2 0 1 "" HuRef nsv438134 X 58480199 58499972 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470167 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18501 esv23408 X 58522452 58598579 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18670,esv14233,esv15867 M 451 3 1 "" NA07037,NA07045,NA12239,NA12776 nsv436639 X 58530875 58541198 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465808 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv1567174 X 58553201 58553201 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785549 S 2 1 0 "" HuRef esv1169141 X 58566104 58566603 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3780603 S 2 0 1 "" HuRef esv2565047 X 58578060 58578191 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5345096 S 1 0 0 "" NA18507 esv4898 X 58578153 58578872 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27339 S 1 0 0 Single Asian sample YH "" YH esv27849 X 61598912 61834933 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19233,esv15947,esv19766 M 451 9 0 "" NA07037,NA07045,NA11894,NA12414,NA12776,NA12828,NA15510,NA18916,NA19114 nsv821332 X 61598912 61834933 CNV Duplication Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420196 S 1 1 0 "" NA10851 nsv436008 X 61605188 61613474 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465811 S 2 1 0 "" NA15510 nsv436641 X 61610844 61629361 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465812 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436769 X 61612046 61612634 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465813 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv436007 X 61613384 61613474 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465814 S 2 1 0 "" NA15510 nsv436009 X 61626446 61629346 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465815 S 2 1 0 "" NA15510 nsv436097 X 61629467 61633706 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465816 S 2 1 0 "" NA15510 nsv436770 X 61634530 61634583 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465817 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv1604870 X 61634810 61636867 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4165117 S 2 0 1 "" HuRef nsv436096 X 61636494 61638415 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465818 S 2 1 0 "" NA15510 esv1495334 X 61642573 61642573 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859728 S 2 1 0 "" HuRef esv1005217 X 61642647 61836958 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586492 S 3 1 0 "" HuRef esv7357 X 61643565 61647813 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29798 S 1 0 1 "" SJK esv6400 X 61645366 61650832 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28841 S 1 0 1 "" SJK esv5855 X 61646049 61647768 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28296 S 1 0 1 "" SJK esv3229 X 61647917 61649944 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25670 S 1 0 0 Single Asian sample YH "" YH esv8008 X 61648087 61650833 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30449 S 1 0 1 "" SJK esv9344 X 61650927 61743193 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31785 S 1 0 0 "" SJK esv6124 X 61710062 61746102 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28565 S 1 0 1 "" SJK esv1631767 X 61739529 61739871 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729765 S 2 0 1 "" HuRef esv1230508 X 61750889 61751742 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4337904 S 2 0 1 "" HuRef nsv818027 X 61845481 61857553 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417757,nssv1418335 M 112 2 0 "" NA18593,NA19093 nsv520427 X 61845481 62090846 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677076,nssv687917,nssv683721,nssv671363,nssv691577 M 2026 5 0 "" nsv508778 X 62095044 62105426 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623590 S 4 1 0 "" NA18994 nsv507965 X 62097980 62103980 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617971,nssv620470 M 4 2 0 "" CHM,NA15510 dgv2448e1 X 62118463 62462786 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv283,essv22882 M 271 0 0 "" NA12760 nsv528200 X 62140538 62196844 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704760 S 2026 1 0 "" nsv6926 X 62183370 62216668 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3795 S 9 1 0 "" NA12878 esv25628 X 62263636 62301888 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17047 S 451 2 0 "" NA06985,NA12776 nsv469778 X 62263841 62428295 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649799 M 265 3 0 Samples from several populations that are part of the HapMap project. "" essv17439 X 62268189 62462786 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12043 nsv510929 X 62306355 62345389 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624329,nssv621615,nssv622396 M 4 0 0 "" NA10860,NA15510,NA18994 nsv507966 X 62320027 62326027 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617972 S 4 1 0 "" CHM esv1584074 X 62321770 70858721 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829597 S 2 0 0 ACRC,AR,ARHGEF9,ARR3,ASB12,AWAT1,AWAT2,CXCR3,CXorf49,CXorf49B,CXorf65,DGAT2L6,DLG3,EDA,EDA2R,EFNB1,FAM123B,FAM155B,FKSG43,FOXO4,GDPD2,GJB1,HEPH,IGBP1,IL2RG,INGX,ITGB1BP2,KIF4A,LAS1L,LOC92249,MED12,MIR1468,MIR223,MIR676,MSN,MTMR8,NLGN3,NONO,OGT,OPHN1,OTUD6A,P2RY4,PDZD11,PJA1,RAB41,SLC7A3,SNX12,SPIN4,STARD8,TAF1,TEX11,VSIG4,YIPF6,ZC3H12B,ZC4H2,ZMYM3 HuRef nsv510539 X 62325401 62331401 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618476 S 4 0 1 "" CHM esv26990 X 62344839 62422391 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16574 S 451 3 0 "" NA06985,NA12156,NA12776 nsv442807 X 62374362 62422551 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515209 X 62385944 62418512 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628395 S 1414 0 0 "" esv33047 X 62390102 62420865 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100632,essv97894,essv101646,essv97128 M 51 4 0 "" 21656,21837,21909,22075 esv27170 X 62494983 62503854 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10098 S 451 0 1 "" NA19257 esv273671 X 62937891 62937976 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581042 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv22749 X 62962975 62966508 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19105 S 451 0 1 "" NA18523 esv29316 X 63096518 63098067 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17274 S 451 1 0 "" NA19108 nsv6927 X 63112120 63146566 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2832 S 9 1 0 "" NA18555 nsv6928 X 63190228 63225259 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv879 S 9 1 0 "" NA19240 nsv521560 X 63200329 63382577 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698175 S 2026 1 0 ASB12,FAM123B esv269289 X 63357441 63357624 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496432,essv2496255,essv2505231 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18510,NA18511,NA18853 nsv6929 X 63384847 63406888 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv880,nssv5230 M 9 2 0 MTMR8 NA19129,NA19240 dgv2449e1 X 63426278 64053414 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11068,esv875 M 271 0 0 MTMR8,ZC4H2 NA19138 essv12363 X 63455524 63800002 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MTMR8 NA19138 nsv6930 X 63525405 63558324 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1841 S 9 1 0 MTMR8 NA18555 nsv818029 X 63553284 63704137 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416997 S 112 1 0 "" NA19138 esv24023 X 63639672 63651943 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13335 S 451 1 0 "" NA18508 nsv442808 X 63642592 63651585 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515210 X 63645392 63651524 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628396 S 1414 0 0 "" esv1004126 X 63787717 63793409 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586338 S 3 1 0 "" HuRef esv29237 X 63788180 63798108 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11983 S 451 1 0 "" NA12287 nsv438135 X 63924546 63972044 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470168 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18995 nsv526117 X 63958112 63970634 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702367 S 2026 0 1 "" esv1152609 X 64510512 64510512 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3937875 S 2 1 0 "" HuRef esv1002540 X 64574710 64580373 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586491 S 3 1 0 "" HuRef esv22795 X 64575898 64579412 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19025 S 451 1 0 "" NA12287 esv2516004 X 64758913 64761774 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5294649 S 1 0 1 "" NA18507 esv2047060 X 64759466 64761346 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4916535 S 1 0 1 "" NA18507 esv988664 X 64987491 64997915 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565031 S 3 0 1 "" HuRef nsv6932 X 65017959 65049571 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv881 S 9 1 0 "" NA19240 esv2558674 X 65138503 65138594 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5180103 S 1 0 1 "" NA18507 nsv6933 X 65139996 65172994 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8731 S 9 1 0 MIR223,VSIG4 NA12156 nsv513609 X 65173147 65174503 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626861 S 1 1 0 VSIG4 1 nsv6934 X 65174997 65207978 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6339 S 9 1 0 VSIG4 NA12156 esv1667089 X 65234043 65234043 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4249028 S 2 1 0 "" HuRef esv1227621 X 65234066 65234066 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3930919 S 2 1 0 "" HuRef nsv520630 X 65622804 65933752 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704733,nssv673360,nssv704867,nssv682762 M 2026 1 3 EDA2R esv1436385 X 65655914 65655914 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3641899 S 2 1 0 "" HuRef nsv507967 X 65833116 65839116 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617973,nssv620471,nssv621961 M 4 3 0 "" CHM,NA10860,NA15510 esv1942148 X 65835196 65835607 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4917317 S 1 0 1 "" NA18507 nsv513610 X 65836097 65836674 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626862 S 1 1 0 "" 1 esv1039571 X 65836553 65836553 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3699435 S 2 1 0 "" HuRef esv1247415 X 65836567 65836567 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3692975 S 2 1 0 "" HuRef nsv508780 X 65856817 65856817 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623592 S 4 1 0 "" NA18994 nsv6935 X 65859741 65904434 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8732 S 9 0 1 "" NA12156 nsv829371 X 65861941 65871340 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1426357,nssv1423934 M 31 2 0 "" AK4,NA18999 nsv424856 X 65947313 65948233 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443434 M 24 "" esv5005 X 66020449 66020766 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27446 S 1 0 1 Single Asian sample YH "" YH esv1493773 X 66020504 66020628 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009615 S 2 0 1 "" HuRef esv29819 X 66020664 66054817 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19268,esv9856 M 451 1 1 "" NA11931,NA11993 nsv829372 X 66076952 66087598 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432637 S 31 1 0 "" AK20 nsv438136 X 66155070 66580944 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470175,nssv470173,nssv470172,nssv470171,nssv470170,nssv470169 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18500,NA18501,NA18502,NA18503,NA18504 nsv510540 X 66223985 66229985 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618477,nssv624098,nssv622198,nssv621371 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv3373 X 66250449 66250761 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25814 S 1 0 1 Single Asian sample YH "" YH esv1519292 X 66250532 66250705 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200900 S 2 0 1 "" HuRef nsv527836 X 66322154 66593120 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704334 S 2026 1 0 "" essv22087 X 66416394 66716658 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. AR NA12154 dgv2450e1 X 66416394 67235819 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv801,essv24615 M 271 0 0 AR,OPHN1 NA12875 nsv516884 X 66490468 66573001 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685681,nssv682508,nssv654682,nssv674865 M 2026 4 0 "" nsv9949 X 66573498 66576173 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28220 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18860 nsv818030 X 66632931 67226025 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1415801 S 112 1 0 AR,OPHN1 NA12875 nsv6936 X 66882111 66913575 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11218 S 9 1 0 "" NA15510 esv998240 X 66893853 66899483 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563485 S 3 1 0 "" HuRef esv2549881 X 66951216 66952751 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5273675 S 1 0 1 "" NA18507 esv1694151 X 66951780 66951780 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3852309 S 2 1 0 "" HuRef nsv511651 X 67014799 67044302 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626286 S 1 0 1 "" 1 nsv9950 X 67015419 67047091 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23497,nssv26529,nssv26934,nssv23469 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18572,NA19144,NA19173 nsv6937 X 67018328 67052557 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3796,nssv1842 M 9 0 2 "" NA12878,NA18555 nsv436633 X 67039639 67047433 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465819 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv26047 X 67040110 67046959 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10687,esv13286 M 451 0 15 "" NA11894,NA12044,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18907,NA18909,NA18916,NA19099,NA19147,NA19190,NA19240 nsv512677 X 67040237 67047377 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625297 S 1 0 1 "" 1 nsv499264 X 67040554 67047027 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586131 S 9 0 1 "" nsv829373 X 67045005 67046965 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423152,nssv1431886 M 31 0 2 "" NA18947,NA18969 nsv515211 X 67045204 67046900 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628397 S 1414 0 1 "" nsv517446 X 67212853 67320448 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691931,nssv652040,nssv678921,nssv704874,nssv662791,nssv661435,nssv672910,nssv682821,nssv666916,nssv678117,nssv696779,nssv658941,nssv675916,nssv680951 M 2026 14 0 OPHN1 nsv6938 X 67218625 67262928 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1843 S 9 0 1 OPHN1 NA18555 nsv6939 X 67282462 67327727 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8733 S 9 0 1 OPHN1 NA12156 nsv436640 X 67459973 67465846 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465821 S 2 0 1 Samples from several populations that are part of the HapMap project. OPHN1 NA18505 esv2575463 X 67461854 67465308 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5326790 S 1 0 1 OPHN1 NA18507 nsv6940 X 67576379 67610162 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8734 S 9 1 0 "" NA12156 esv1077146 X 67729404 67729404 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3626094 S 2 1 0 "" HuRef nsv6941 X 67734534 67767783 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1844 S 9 1 0 "" NA18555 nsv6943 X 67774437 67810988 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2833,nssv882 M 9 2 0 STARD8 NA18555,NA19240 nsv516469 X 67776820 68086141 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655600,nssv670035,nssv660025,nssv690732,nssv681149,nssv668574,nssv657468,nssv662943,nssv660284 M 2026 9 0 EFNB1,STARD8 nsv6944 X 67824368 67856108 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8735 S 9 0 1 STARD8 NA12156 nsv519568 X 68130082 68187899 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701611,nssv656907,nssv692698,nssv692886 M 2026 3 1 "" nsv528655 X 68187899 68240485 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705289 S 2026 1 0 "" nsv528197 X 68240485 68259301 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704756 S 2026 1 0 "" nsv829374 X 68302033 68310644 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423163 S 31 1 0 PJA1 NA18969 dgv515n21 X 68302588 68317266 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524851,nsv518868 M 2026 2 0 "" nsv527002 X 68321890 68337573 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703377 S 2026 1 0 "" nsv525710 X 68373550 68389552 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701872 S 2026 1 0 "" nsv829376 X 68463298 68479403 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423174 S 31 1 0 "" NA18969 nsv6945 X 68499605 68507463 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3797 S 9 1 0 "" NA12878 esv25466 X 68640210 68643316 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18175 S 451 0 1 FAM155B NA11993 esv23322 X 68647598 68648103 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13667 S 451 1 0 FAM155B NA12044 nsv527003 X 68691200 68695595 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703378 S 2026 1 0 "" nsv425341 X 68743484 68743484 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443919 M 24 "" esv33259 X 68752805 68753390 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100863,essv99779 M 51 2 0 EDA 21656,22086 esv33223 X 68754989 68755346 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100079 S 51 0 1 EDA 22086 nsv6946 X 68759452 68792356 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6340 S 9 1 0 EDA NA12156 nsv6947 X 68801888 68846569 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8737 S 9 0 1 EDA NA12156 nsv524859 X 68845223 68974292 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700863 S 2026 1 0 EDA nsv521471 X 68860406 69044287 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698082 S 2026 0 1 EDA nsv526923 X 68930046 68958320 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703287 S 2026 1 0 EDA nsv520990 X 69052826 69110255 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679243,nssv685190 M 2026 2 0 EDA nsv6948 X 69087730 69122429 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2834 S 9 1 0 EDA NA18555 nsv6949 X 69173769 69207518 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8738 S 9 1 0 AWAT2,EDA,OTUD6A NA12156 esv28363 X 69200802 69205788 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10703 S 451 2 0 "" NA11993,NA18511 esv6002 X 69219751 69220008 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28443 S 1 0 1 "" SJK nsv519741 X 69326617 69375472 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697023 S 2026 1 0 AWAT1,DGAT2L6 nsv520416 X 69326617 69381133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697403 S 2026 0 1 AWAT1,DGAT2L6 nsv527253 X 69356238 69381133 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703657 S 2026 1 0 AWAT1 esv2518085 X 69362463 69363889 OTHER Inversion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359049 S 1 0 0 "" NA18507 esv2442480 X 69362914 69363838 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5377354 S 1 1 0 "" NA18507 nsv522033 X 69369759 69381997 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694802 S 2026 1 0 AWAT1 nsv519108 X 69394200 69395667 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696584 S 2026 0 1 P2RY4 nsv525258 X 69395500 69418779 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701357 S 2026 1 0 ARR3,P2RY4,RAB41 esv1361658 X 69486676 69486676 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3847444 S 2 1 0 KIF4A HuRef nsv425219 X 69510087 69510184 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443797 M 24 KIF4A nsv6950 X 69530644 69564411 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8739 S 9 1 0 GDPD2,KIF4A NA12156 esv33082 X 69557260 71024758 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101708,essv97151,essv100013,essv99146,essv99499 M 51 0 5 ACRC,CXCR3,CXorf49,CXorf49B,CXorf65,DLG3,FLJ46446,FOXO4,GDPD2,GJB1,IL2RG,INGX,ITGB1BP2,KIF4A,LOC100132741,MED12,NLGN3,NONO,OGT,SLC7A3,SNX12,TAF1,TEX11,ZMYM3 21909,22075,22086,22275,22335 nsv6951 X 69645783 69665110 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1845 S 9 0 1 "" NA18555 nsv499633 X 69648065 69650937 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586132 S 9 0 1 "" esv27931 X 69648421 69651310 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17599 S 451 0 2 "" NA06985,NA19190 nsv515212 X 69649160 69650880 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628398 S 1414 0 1 "" nsv517078 X 69682583 70037799 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv655536,nssv678486,nssv673361,nssv664119,nssv685682,nssv676367,nssv688356,nssv666887,nssv690519,nssv670446,nssv669990,nssv670089,nssv670022,nssv683300,nssv683661,nssv668288,nssv656908,nssv657733,nssv675714,nssv677228,nssv653741,nssv691177,nssv664152,nssv684706,nssv663554,nssv690319,nssv686519,nssv661775,nssv704926,nssv693455,nssv683315,nssv685786,nssv694750,nssv652128,nssv703917,nssv671216,nssv672025,nssv688476,nssv674866,nssv674114,nssv682194,nssv684114,nssv673040,nssv661622,nssv662504,nssv652952 M 2026 46 0 TEX11 nsv510931 X 69939536 70105784 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624330 S 4 0 0 SLC7A3,TEX11 NA18994 nsv507968 X 70025583 70031583 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621962 S 4 1 0 TEX11 NA10860 nsv425085 X 70033716 70033770 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443663 M 24 TEX11 esv1629284 X 70033730 70033730 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026858 S 2 1 0 TEX11 HuRef nsv513611 X 70053780 70054401 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626863 S 1 1 0 "" 1 esv1630064 X 70053875 70053924 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255062 S 2 0 1 "" HuRef esv1672199 X 70054046 70054046 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4084010 S 2 1 0 "" HuRef esv24493 X 70054630 70058042 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18287,esv18066 M 451 0 3 "" NA12287,NA12489,NA12776 nsv820742 X 70054630 70058042 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420197 S 1 0 1 "" NA10851 nsv6952 X 70179596 70214108 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv883 S 9 1 0 SNX12 NA19240 esv27208 X 70292327 70293467 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14365 S 451 1 0 NLGN3 NA12044 nsv508781 X 70342450 70422817 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620951 S 4 1 0 GJB1,NONO,ZMYM3 NA15510 nsv425542 X 70344406 70346786 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444120 M 24 "" nsv512678 X 70656964 70659578 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625298 S 1 0 1 "" 1 esv27144 X 70715881 70716871 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19536 S 451 2 0 ACRC NA11993,NA12044 nsv6954 X 70726427 70760244 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv884 S 9 1 0 ACRC,CXCR3 NA19240 nsv6955 X 70755320 70792427 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8740 S 9 0 1 "" NA12156 essv6290 X 70787978 70997937 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CXorf49,CXorf49B,FLJ46446,LOC100132741 NA18636 dgv2451e1 X 70787978 71217141 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16201,esv345,essv11761 M 271 0 0 CXorf49,CXorf49B,FLJ46446,LOC100132741,NHSL2,RPS26P11 NA18504,NA19161 nsv9951 X 70789657 70833924 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27533 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 dgv516n21 X 70803486 71026956 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv523166,nsv520952 M 2026 0 3 CXorf49,CXorf49B,FLJ46446,LOC100132741 nsv7449 X 70820842 70972407 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3798 S 9 0 0 CXorf49,CXorf49B,FLJ46446,LOC100132741 NA12878 nsv9952 X 70839361 70876381 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27541 S 31 0 1 Samples from several populations that are part of the HapMap project. CXorf49,CXorf49B NA18504 nsv9953 X 70873575 70881104 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26317,nssv26543,nssv25654,nssv25033,nssv25890,nssv28222,nssv27549 M 31 5 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA18504,NA18853,NA18860,NA19007,NA19173 nsv821558 X 70876219 70878551 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420198 S 1 0 1 "" NA10851 esv28470 X 70876251 70878437 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19615,esv20341 M 451 12 7 "" NA11894,NA11931,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19129,NA19225,NA19240,NA19257 esv991287 X 70876302 70878401 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586098 S 3 0 1 "" HuRef nsv9954 X 70878301 70915361 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27557 S 31 0 1 Samples from several populations that are part of the HapMap project. CXorf49,CXorf49B,FLJ46446,LOC100132741 NA18504 nsv9955 X 70921335 70926138 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27565 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv507969 X 71020604 71026604 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617974,nssv620472,nssv621963 M 4 3 0 "" CHM,NA10860,NA15510 nsv517419 X 71025083 71060830 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690058,nssv678286,nssv659347,nssv682509,nssv651963,nssv684178 M 2026 6 0 NHSL2 esv1978078 X 71039762 71040446 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4738916 S 1 0 1 "" NA18507 esv4360 X 71039875 71040327 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26801 S 1 0 1 Single Asian sample YH "" YH esv1008710 X 71039946 71040262 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571158 S 3 0 1 "" HuRef dgv270n6 X 71039946 71040273 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv425554,nsv424935 M 24 "" esv1632506 X 71039956 71040273 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3970177 S 2 0 1 "" HuRef nsv6956 X 71099203 71144508 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8741 S 9 0 1 NHSL2 NA12156 esv1106651 X 71100599 71100599 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3966779 S 2 1 0 NHSL2 HuRef esv268632 X 71229305 71229793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501093,essv2501028,essv2509364,essv2501276,essv2506867,essv2493562 M 157 6 0 Samples from several populations that are part of the HapMap project. NHSL2 NA18516,NA18856,NA18909,NA19093,NA19102,NA19137 nsv525711 X 71239825 71261313 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701873 S 2026 1 0 NHSL2 esv2618677 X 71291163 71292948 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5167177 S 1 0 1 FLJ44635 NA18507 esv9073 X 71291497 71292260 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31514 S 1 0 1 FLJ44635 SJK esv21569 X 71325874 71332786 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19459 S 451 0 1 PIN4 NA19099 esv22874 X 71442096 71444408 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10210 S 451 0 1 CITED1 NA11993 esv2244642 X 71585702 71586040 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4655597 S 1 0 1 HDAC8 NA18507 nsv6957 X 71612960 71647082 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3799 S 9 1 0 HDAC8 NA12878 nsv7450 X 71857884 72099516 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9778,nssv6341,nssv6342 M 9 0 0 DMRTC1,DMRTC1B,LINC00246A,LINC00246B,LOC100129407 NA12156,NA18507 esv29588 X 71937528 71944625 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20154 S 451 1 0 "" NA18511 esv29629 X 72048817 72055913 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19068 S 451 1 0 "" NA18511 esv25077 X 72063452 72079638 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19262 S 451 1 0 LINC00246A,LINC00246B,LOC100129407 NA18511 nsv7451 X 72109447 72241800 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5232,nssv5231,nssv885 M 9 0 0 PABPC1L2A,PABPC1L2B NA19129,NA19240 dgv1253n67 X 72123738 72145035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829377,nsv829378 M 31 2 0 PABPC1L2B AK12,NA18969 nsv508782 X 72127716 72165008 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618148 S 4 1 0 PABPC1L2B CHM esv1762983 X 72139321 72140074 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4166967 S 2 0 0 "" HuRef nsv499562 X 72141106 72214699 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585584 S 9 0 0 PABPC1L2A,PABPC1L2B nsv829379 X 72142255 72145035 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422347 S 31 1 0 PABPC1L2B NA18997 esv268999 X 72154995 72155112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499326,essv2507478,essv2495192,essv2500754 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18605,NA18638,NA18964,NA18973 nsv519269 X 72162076 72175130 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696758 S 2026 1 0 "" nsv507970 X 72198416 72204416 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617975 S 4 1 0 "" CHM nsv829380 X 72207418 72260950 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423208 S 31 1 0 PABPC1L2A NA18969 esv1742853 X 72316992 72317064 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4044333 S 2 0 1 "" HuRef esv995340 X 72454814 72461594 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586505 S 3 1 0 "" HuRef esv23554 X 72455278 72460485 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10882 S 451 1 0 "" NA12287 nsv818031 X 72537368 72555175 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417761 S 112 1 0 "" NA18978 nsv6958 X 72727568 72756079 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9780,nssv886 M 9 0 2 CHIC1 NA18507,NA19240 esv23979 X 72730219 72747553 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15115,esv19606 M 451 0 4 CHIC1 NA18502,NA19099,NA19225,NA19240 esv2490652 X 72734706 72748978 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307259 S 1 0 1 CHIC1 NA18507 nsv499728 X 72735761 72748500 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586133 S 9 0 1 CHIC1 nsv515213 X 72744696 72746616 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628399 S 1414 0 1 CHIC1 nsv6959 X 73028498 73066598 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3800 S 9 0 1 "" NA12878 esv1005511 X 73077664 73102640 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563471 S 3 1 0 JPX HuRef esv29793 X 73082456 73086400 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18254 S 451 0 5 JPX NA18502,NA18907,NA19099,NA19225,NA19240 nsv6960 X 73087946 73103368 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6343 S 9 1 0 JPX NA12156 esv2067362 X 73124123 73124566 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4531294 S 1 0 1 JPX NA18507 nsv520605 X 73466052 73486201 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv674965,nssv704597,nssv673041 M 2026 3 0 "" esv271765 X 73527185 73527392 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511225,essv2505106,essv2493640,essv2505726,essv2502356,essv2502608,essv2506463,essv2499738,essv2511478 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07346,NA11931,NA11995,NA18517,NA18861,NA18948,NA18965,NA19108,NA19225 nsv521472 X 73573140 73794826 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698083 S 2026 1 0 RLIM,SLC16A2 esv1645631 X 73595805 73595805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708793 S 2 1 0 SLC16A2 HuRef nsv424889 X 73595806 73595806 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443467 M 24 SLC16A2 nsv507971 X 73634025 73640025 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621964,nssv620473 M 4 2 0 SLC16A2 NA10860,NA15510 esv25282 X 74378703 74573789 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13841 S 451 1 0 UPRT,ZDHHC15 NA12828 esv988916 X 74516462 74516524 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584589 S 3 0 1 ZDHHC15 HuRef esv1585432 X 74516462 74516525 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3701199 S 2 0 1 ZDHHC15 HuRef nsv425323 X 74516463 74516525 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443901 M 24 ZDHHC15 esv2752334 X 74704612 75166861 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6988571,essv6982702 M 771 1 0 MAGEE2,TTC3P1 BEC_580 nsv6961 X 74795866 74840581 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8742 S 9 0 1 "" NA12156 nsv6962 X 75136011 75175776 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8744 S 9 0 1 "" NA12156 nsv527422 X 75182077 75290344 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703860 S 2026 1 0 "" esv1277224 X 75786572 75787308 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4087017 S 2 0 1 "" HuRef nsv6963 X 75839393 75870960 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6344 S 9 1 0 "" NA12156 dgv2452e1 X 75986125 76068142 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1005,essv24033 M 271 0 0 MIR384 NA12873 nsv510541 X 76007802 76013802 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622199 S 4 0 1 "" NA10860 nsv438138 X 76046402 76060798 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470176 S 269 0 1 Samples from several populations that are part of the HapMap project. MIR384 NA12864 nsv515864 X 76046402 76060798 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658616,nssv687572,nssv695479,nssv660663,nssv668324,nssv668483,nssv676243,nssv665062,nssv667991 M 2026 0 9 MIR384 essv19800 X 76052049 76057477 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. MIR384 NA12864 nsv442809 X 76053855 76057477 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MIR384 nsv515214 X 76054024 76057416 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628400 S 1414 0 1 MIR384 nsv508783 X 76307437 76337654 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619593,nssv623593 M 4 2 0 "" NA10860,NA18994 nsv510542 X 76452673 76458673 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618478 S 4 0 1 "" CHM nsv6967 X 76482135 76515870 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv887 S 9 1 0 "" NA19240 esv2476809 X 76490229 76491927 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5391168 S 1 0 1 "" NA18507 nsv511668 X 76992701 77047190 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626305 S 1 0 1 COX7B,MAGT1 1 nsv512679 X 77008011 77010791 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625300 S 1 0 1 MAGT1 1 dgv202e180 X 77008201 77010626 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1010702,esv989162 M 3 0 1 MAGT1 HuRef nsv821080 X 77008201 77010626 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420199 S 1 0 1 MAGT1 NA10851 nsv829381 X 77008201 77010626 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1424722,nssv1423219,nssv1426358,nssv1425481,nssv1437916,nssv1428009,nssv1421433,nssv1428809,nssv1438572,nssv1427242,nssv1437396,nssv1430321,nssv1429546,nssv1436315,nssv1431897,nssv1440105,nssv1423105,nssv1423867,nssv1434153 M 31 0 19 MAGT1 AK10,AK12,AK14,AK2,AK4,AK6,AK8,NA18526,NA18537,NA18547,NA18552,NA18566,NA18582,NA18592,NA18947,NA18949,NA18951,NA18968,NA18969 esv21463 X 77008367 77010498 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10715 S 451 2 12 MAGT1 NA06985,NA11931,NA11993,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12489,NA12749,NA12776,NA12828,NA18508 esv1784785 X 77027221 77027675 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4091402 S 2 0 1 MAGT1 HuRef dgv2453e1 X 77111566 77195728 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12152,esv299 M 271 0 0 ATP7A,PGAM4 NA19101 esv28143 X 77404048 77410724 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13981 S 451 0 1 "" NA18502 nsv510834 X 77490801 77511680 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618868 S 4 0 1 "" NA10860 dgv517n21 X 77549095 78010734 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528728,nsv521599 M 2026 2 0 LPAR4,ZCCHC5 nsv6968 X 77550388 77581155 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5233 S 9 1 0 "" NA19129 nsv510835 X 77581628 77668724 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618869 S 4 0 1 "" NA10860 esv2451470 X 77583029 77584901 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5242739 S 1 0 1 "" NA18507 nsv512680 X 77583129 77584634 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625301 S 1 0 1 "" 1 esv1955261 X 77583317 77584314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4904514 S 1 0 1 "" NA18507 esv4109 X 77583462 77584171 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26550 S 1 0 1 Single Asian sample YH "" YH esv1024151 X 77583513 77584111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4281918 S 2 0 1 "" HuRef esv7066 X 77583516 77584105 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29507 S 1 0 1 "" SJK nsv510836 X 77682666 77712575 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622635 S 4 0 1 "" NA18994 nsv819401 X 78008227 78008282 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418908 S 2 1 0 "" AK1 esv2410009 X 78068469 78068847 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4765844 S 1 0 1 "" NA18507 nsv510837 X 78177652 78243861 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622636 S 4 0 1 "" NA18994 nsv510543 X 78274449 78280449 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622200 S 4 0 1 "" NA10860 nsv507972 X 78348858 78354858 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617976 S 4 1 0 "" CHM nsv519126 X 78473400 78515834 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696604 S 2026 1 0 ITM2A nsv520140 X 78530923 78620034 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697244 S 2026 1 0 "" nsv518181 X 78623086 78825632 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695602 S 2026 1 0 "" nsv507973 X 78723603 78729603 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621965 S 4 1 0 "" NA10860 nsv518714 X 78800927 78815765 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696165 S 2026 1 0 "" nsv519450 X 78800927 78825632 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696860 S 2026 1 0 "" esv27678 X 78800939 78812607 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21120,esv19311,esv19078 M 451 14 10 "" NA07037,NA11931,NA11993,NA11995,NA12006,NA12239,NA12287,NA12489,NA12749,NA12776,NA12878,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19190,NA19240 nsv6969 X 78804588 78818243 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3803 S 9 0 1 "" NA12878 esv995577 X 78804602 78806726 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564420 S 3 0 1 "" HuRef nsv820196 X 78805985 78813962 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419850 S 2 1 0 "" AK1 nsv820934 X 78807772 78812607 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420200 S 1 0 1 "" NA10851 nsv829382 X 78807772 78812607 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423230,nssv1440786,nssv1431055,nssv1437917,nssv1437209,nssv1424723,nssv1426361,nssv1438573,nssv1422349,nssv1431785,nssv1431908,nssv1434850,nssv1423935,nssv1437408,nssv1433399,nssv1439442,nssv1423879 M 31 0 17 "" AK16,AK18,AK4,NA18542,NA18547,NA18564,NA18570,NA18582,NA18592,NA18947,NA18949,NA18951,NA18969,NA18972,NA18973,NA18997,NA18999 nsv510838 X 78807932 78826457 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618870 S 4 0 1 "" NA10860 nsv512681 X 78808208 78813014 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625302 S 1 0 1 "" 1 nsv511660 X 78808431 78818656 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626296 S 1 0 1 "" 1 esv994677 X 78808444 78818342 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565198 S 3 0 1 "" HuRef esv1000135 X 78808573 78811020 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586748 S 3 0 1 "" HuRef nsv515215 X 78808912 78811624 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628401 S 1414 0 1 "" esv1607413 X 78809884 78810019 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3861800 S 2 0 0 "" HuRef esv1005308 X 78811110 78811763 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586978 S 3 0 1 "" HuRef nsv829383 X 78811110 78811763 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427243,nssv1425482,nssv1434154,nssv1421434,nssv1428010,nssv1440106,nssv1435640,nssv1430322,nssv1429547,nssv1436316,nssv1428810,nssv1432638,nssv1423106 M 31 0 13 "" AK10,AK12,AK14,AK2,AK20,AK6,AK8,NA18526,NA18537,NA18552,NA18566,NA18942,NA18968 nsv526654 X 78815765 78843683 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702982 S 2026 1 0 "" nsv499307 X 78833104 78835493 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586134 S 9 0 1 "" nsv424916 X 78833105 78835491 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443494 M 24 "" esv1973595 X 78958702 78959369 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4941181 S 1 0 1 "" NA18507 esv1019671 X 78958882 78959176 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3958860 S 2 0 1 "" HuRef dgv2454e1 X 78977989 78991160 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1072,essv19071 M 271 0 0 "" NA11830 nsv438139 X 78989702 78990685 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470178,nssv470177 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA10854,NA10856 nsv525585 X 78989702 78990685 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701724 S 2026 0 1 "" esv1920316 X 79006672 79007137 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4583122 S 1 0 1 "" NA18507 nsv525862 X 79014847 79085029 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702058 S 2026 1 0 "" esv2752337 X 79016244 79125114 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986181,essv6982463 M 771 1 0 "" BEC_447 nsv526679 X 79032104 79080259 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703011 S 2026 1 0 "" esv28184 X 79047446 79067154 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15752 S 451 0 1 "" NA19225 esv27369 X 79098107 79105288 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10382 S 451 1 0 "" NA12287 esv995961 X 79098828 79106089 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586599 S 3 1 0 "" HuRef nsv508784 X 79099939 79141551 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619594,nssv620952,nssv623594 M 4 3 0 "" NA10860,NA15510,NA18994 nsv521266 X 79117857 79161635 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691093,nssv690320 M 2026 2 0 TBX22 nsv6970 X 79120933 79145593 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10717 S 9 1 0 "" NA18956 nsv425516 X 79124893 79124957 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444094 M 24 "" esv994672 X 79184892 79189548 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586114 S 3 1 0 "" HuRef esv23789 X 79185498 79189843 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19340 S 451 1 0 "" NA12287 nsv6971 X 79222868 79255600 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6346 S 9 1 0 "" NA12156 nsv518523 X 79224576 79362384 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695964 S 2026 1 0 "" nsv510544 X 79366592 79372592 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618479 S 4 0 1 "" CHM esv1030202 X 79467786 79467786 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3920857 S 2 1 0 "" HuRef esv1325906 X 79467965 79467965 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158355 S 2 1 0 "" HuRef nsv6972 X 79512288 79541457 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5234 S 9 1 0 FAM46D NA19129 esv1341044 X 79539100 79539100 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4052436 S 2 1 0 FAM46D HuRef esv1132104 X 79603325 79603325 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3802892 S 2 1 0 "" HuRef esv1299360 X 79603387 79603387 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4145588 S 2 1 0 "" HuRef esv6223 X 79614562 79638244 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28664 S 1 0 0 "" SJK nsv818032 X 79635907 79672590 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417958 S 112 1 0 "" NA18852 nsv524776 X 79789825 79899463 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700767 S 2026 1 0 BRWD3 esv7232 X 79868165 79868534 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29673 S 1 0 1 BRWD3 SJK esv33127 X 79876274 80256797 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100702 S 51 0 1 BRWD3,HMGN5 21656 nsv528109 X 79879279 79899463 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704651 S 2026 1 0 BRWD3 esv271647 X 80049993 80050269 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516321 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv510839 X 80063004 80137368 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618871 S 4 0 1 "" NA10860 esv24190 X 80100845 80118957 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18954 S 451 2 0 "" NA18505,NA19114 nsv436916 X 80105777 80116040 CNV Insertion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465822 S 2 1 0 Samples from several populations that are part of the HapMap project. "" NA18505 esv24043 X 80303171 80304099 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13413 S 451 0 1 HMGN5 NA18502 esv271671 X 80316169 80316465 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516021 S 157 1 0 Samples from several populations that are part of the HapMap project. HMGN5 NA12873 nsv6973 X 80405015 80439369 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv888 S 9 1 0 SH3BGRL NA19240 nsv6974 X 80513038 80557927 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8745 S 9 0 1 "" NA12156 esv29240 X 80635290 80667362 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10027 S 451 0 1 "" NA19129 esv992666 X 80685015 80685015 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567302 S 3 1 0 "" HuRef nsv507974 X 80778618 80784618 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620474,nssv623088,nssv621966,nssv617977 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv270498 X 80834764 80835049 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513289,essv2497552 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18907,NA19147 esv3225 X 80929090 80929784 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25666 S 1 0 1 Single Asian sample YH "" YH nsv512682 X 80929095 80930537 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625303 S 1 0 1 "" 1 esv1324177 X 80929159 80929739 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726088 S 2 0 1 "" HuRef nsv6975 X 80966416 81007410 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5235,nssv1846,nssv3804 M 9 0 3 "" NA12878,NA18555,NA19129 nsv510840 X 80982617 81004859 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618872 S 4 0 1 "" NA10860 dgv140n16 X 80982803 80990945 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing nsv436630,nsv435894 M 2 0 2 "" NA15510,NA18505 esv1011111 X 80982915 80989496 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564014 S 3 0 1 "" HuRef nsv512683 X 80983001 80989826 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625304 S 1 0 1 "" 1 esv4474 X 80983243 80989492 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26915 S 1 0 1 Single Asian sample YH "" YH nsv499393 X 80983297 80989361 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586135 S 9 0 1 "" esv1615038 X 80983309 80989360 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879299 S 2 0 1 "" HuRef nsv519858 X 81040004 81163336 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697089 S 2026 1 0 "" esv1580475 X 81059279 81059279 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3853646 S 2 1 0 "" HuRef nsv424907 X 81059318 81059318 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443485 M 24 "" esv25150 X 81060530 81062495 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18318 S 451 0 1 "" NA18511 nsv6976 X 81061693 81064103 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10718 S 9 1 0 "" NA18956 esv271304 X 81194258 81194598 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513792 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv9956 X 81269370 81305518 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27573 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv28955 X 81282595 81302158 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18918 S 451 0 2 "" NA18502,NA19108 nsv438140 X 81282996 81298625 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470180,nssv470179 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18504,NA19103 nsv442810 X 81283429 81298800 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515216 X 81283696 81284832 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627216 S 1414 0 0 "" nsv517353 X 81285706 81290133 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653230,nssv665375,nssv665142,nssv651802,nssv680076,nssv659793,nssv661095,nssv673416,nssv658199,nssv664718,nssv659410,nssv665509,nssv685327,nssv674325,nssv677254,nssv676953,nssv670673,nssv671140,nssv663998,nssv668610,nssv686327,nssv677012,nssv682548 M 2026 0 23 "" nsv6978 X 81476563 81521320 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8746 S 9 0 1 "" NA12156 nsv525819 X 81584582 82163404 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702005 S 2026 1 0 "" esv1698762 X 81787459 81787459 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180837 S 2 1 0 "" HuRef nsv6979 X 81790730 81822135 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6347 S 9 1 0 "" NA12156 nsv522910 X 81836210 81897894 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698569 S 2026 1 0 "" nsv510841 X 81852210 81901692 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618873,nssv622637 M 4 0 2 "" NA10860,NA18994 nsv6980 X 81863827 81878282 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3805 S 9 0 1 "" NA12878 nsv512684 X 81867992 81874861 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625305 S 1 0 1 "" 1 nsv499362 X 81869019 81874827 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586136 S 9 0 1 "" esv25394 X 81869783 81874374 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14421 S 451 0 2 "" NA11995,NA12878 nsv821053 X 81869783 81874374 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420201 S 1 0 1 "" NA10851 nsv6981 X 81901993 81937116 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3806 S 9 1 0 "" NA12878 nsv6982 X 82044348 82078796 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv889 S 9 1 0 "" NA19240 nsv513612 X 82121827 82122391 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626864 S 1 1 0 "" 1 esv1351917 X 82122159 82122159 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4221561 S 2 1 0 "" HuRef nsv510842 X 82648459 82691102 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618874 S 4 0 1 POU3F4 NA10860 nsv9958 X 83207253 83212267 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23525 S 31 0 1 Samples from several populations that are part of the HapMap project. RPS6KA6 NA18572 nsv513613 X 83221819 83222069 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626865 S 1 1 0 RPS6KA6 1 esv1340569 X 83333405 83333459 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4004704 S 2 0 1 "" HuRef nsv425297 X 83333570 83333637 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443875 M 24 "" nsv519860 X 83401106 83807319 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697090 S 2026 1 0 HDX nsv520647 X 83652210 83850582 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673525,nssv695480,nssv700025,nssv690768,nssv696106 M 2026 5 0 "" nsv512685 X 83682796 83686251 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625306 S 1 0 1 "" 1 esv1378497 X 83683458 83683703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4158876 S 2 0 1 "" HuRef nsv510843 X 83710733 83771277 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618875 S 4 0 1 "" NA10860 nsv6983 X 83725105 83769941 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8747 S 9 0 1 "" NA12156 nsv513614 X 83841941 83842336 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626866 S 1 1 0 "" 1 esv1352993 X 83842023 83842023 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4002737 S 2 1 0 "" HuRef nsv510844 X 83884999 83939223 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622638 S 4 0 1 "" NA18994 esv24083 X 84035288 84036913 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12860 S 451 0 1 "" NA19099 esv1768621 X 84229812 84229878 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3858678 S 2 0 1 APOOL HuRef esv1925625 X 84230281 84230706 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514842 S 1 0 1 APOOL NA18507 esv1139290 X 84230479 84230528 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3710530 S 2 0 1 APOOL HuRef nsv6984 X 84338265 84361206 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1847 S 9 1 0 "" NA18555 esv2466752 X 84395311 84396965 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5393187 S 1 0 1 ZNF711 NA18507 nsv820009 X 84513298 84515355 CNV Loss Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419375 S 2 0 1 POF1B AK1 nsv424875 X 84648817 84654863 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443453 M 24 "" esv1408358 X 84692624 84692624 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4120384 S 2 1 0 "" HuRef nsv513615 X 84710141 84710570 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626867 S 1 1 0 "" 1 nsv519786 X 84791412 85049618 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696662,nssv671840,nssv658617,nssv703256 M 2026 4 0 CHM esv997963 X 84887102 84889330 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564444 S 3 1 0 "" HuRef esv1602918 X 84887141 84887141 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038712 S 2 1 0 "" HuRef nsv438141 X 85073796 85086785 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470182,nssv470181 M 269 0 2 Samples from several populations that are part of the HapMap project. CHM NA18532,NA18540 nsv510545 X 85144007 85150007 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622201,nssv618480 M 4 0 2 CHM CHM,NA10860 nsv438142 X 85212168 85218969 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470183,nssv470184 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18532,NA18540 esv1414096 X 85244862 85244920 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4245453 S 2 0 1 "" HuRef esv2227206 X 85424241 85424919 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4918711 S 1 0 1 DACH2 NA18507 nsv510845 X 85474385 85497834 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617447,nssv620039,nssv618876,nssv622640 M 4 0 4 DACH2 CHM,NA10860,NA15510,NA18994 nsv6985 X 85475724 85522677 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6348,nssv890,nssv1848,nssv9928,nssv10719 M 9 0 5 DACH2 NA12156,NA18507,NA18555,NA18956,NA19240 nsv515217 X 85488816 85519504 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628404 S 1414 0 1 DACH2 esv2538515 X 85491035 85496963 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5240199 S 1 0 1 DACH2 NA18507 nsv436631 X 85491667 85496438 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465825 S 2 0 1 Samples from several populations that are part of the HapMap project. DACH2 NA18505 nsv512686 X 85491798 85496651 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625307 S 1 0 1 DACH2 1 nsv499477 X 85491827 85496532 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586137 S 9 0 1 DACH2 nsv525697 X 85536981 85556769 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701857 S 2026 1 0 DACH2 esv26654 X 85561431 85563702 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15799 S 451 0 1 DACH2 NA15510 nsv6986 X 85573344 85577841 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6349 S 9 1 0 DACH2 NA12156 esv2164340 X 85611523 85611944 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4720736 S 1 0 1 DACH2 NA18507 nsv425495 X 85611697 85611769 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444073 M 24 DACH2 esv268528 X 85668395 85671778 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2501905,essv2498255 M 157 2 0 Samples from several populations that are part of the HapMap project. DACH2 NA19239,NA19240 esv274047 X 85668409 85671862 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2578912,essv2579711 M 7 2 0 Samples from several populations that are part of the HapMap project. DACH2 NA19239,NA19240 nsv525946 X 85737367 85847766 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702152 S 2026 1 0 DACH2 nsv520837 X 85810852 85831246 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697642 S 2026 1 0 DACH2 nsv526936 X 85912483 85921355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703304 S 2026 1 0 DACH2 nsv519525 X 85912483 85984247 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694333 S 2026 1 0 DACH2 esv23212 X 85976280 85977093 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16946 S 451 0 1 "" NA19129 nsv513616 X 86012985 86013454 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626868 S 1 1 0 "" 1 esv1600000 X 86013494 86013494 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4236703 S 2 1 0 "" HuRef esv1185787 X 86014017 86014017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3834500 S 2 1 0 "" HuRef esv1620880 X 86024362 86024414 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4129293 S 2 0 1 "" HuRef nsv510546 X 86024766 86030766 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624099,nssv622202,nssv618481 M 4 0 3 "" CHM,NA10860,NA18994 nsv6987 X 86034637 86066697 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3807 S 9 1 0 "" NA12878 nsv519045 X 86060129 86099449 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694301 S 2026 0 1 "" nsv510547 X 86092070 86098070 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622203,nssv624100,nssv621372 M 4 0 3 "" NA10860,NA15510,NA18994 nsv512687 X 86164918 86167481 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625308 S 1 0 1 "" 1 esv2593614 X 86165518 86167930 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5359275 S 1 0 1 "" NA18507 esv2089452 X 86165556 86166976 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632397 S 1 0 1 "" NA18507 nsv512688 X 86170646 86174461 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625309 S 1 0 1 "" 1 esv2153392 X 86173249 86174062 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4740289 S 1 0 1 "" NA18507 nsv522982 X 86183189 86191417 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698652 S 2026 0 1 "" nsv526382 X 86230270 86286266 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702679 S 2026 1 0 "" nsv519109 X 86352346 86356712 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696585 S 2026 1 0 "" nsv526412 X 86352346 86889097 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702712 S 2026 1 0 KLHL4 nsv526698 X 86369715 86467350 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703036 S 2026 1 0 "" nsv520678 X 86416610 86467350 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691412,nssv690542,nssv701910,nssv673887 M 2026 4 0 "" nsv518194 X 86436628 86473956 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695618 S 2026 0 1 "" nsv520412 X 86436628 86474619 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697400 S 2026 1 0 "" nsv519271 X 86530473 86554242 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696759 S 2026 1 0 "" nsv520176 X 86553764 86749377 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699612,nssv694379,nssv671251,nssv698113,nssv687425,nssv688968,nssv661376 M 2026 7 0 KLHL4 nsv520266 X 86652997 86915504 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697315 S 2026 1 0 KLHL4 nsv521499 X 86753903 86817014 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698114 S 2026 1 0 KLHL4 nsv6989 X 86754432 86788476 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3808,nssv8748 M 9 2 0 KLHL4 NA12156,NA12878 nsv470353 X 86873995 86919575 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547041 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00712 nsv521252 X 86938966 87009518 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697869 S 2026 1 0 "" nsv521305 X 87007547 87009518 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697911 S 2026 0 1 "" esv2529038 X 87101232 87103091 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5201911 S 1 0 1 "" NA18507 nsv521636 X 87127357 87292435 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698254 S 2026 1 0 "" nsv515218 X 87153040 87356664 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628405 S 1414 0 1 "" nsv470354 X 87265998 87426523 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547042 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00661 nsv528293 X 87294860 87378976 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704868 S 2026 1 0 "" nsv6990 X 87331135 87365659 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2835 S 9 1 0 "" NA18555 dgv518n21 X 87372362 87513666 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523682,nsv518355 M 2026 2 0 "" nsv519179 X 87446282 87523763 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696663 S 2026 1 0 "" nsv522431 X 87472406 87479167 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705786 S 2026 1 0 "" nsv527086 X 87539143 87566643 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703465 S 2026 1 0 "" nsv470356 X 87615554 87854475 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547044 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00605 esv2199269 X 87629574 87630182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4845074 S 1 0 1 "" NA18507 nsv515219 X 87780056 88038256 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628406 S 1414 0 1 CPXCR1 esv272495 X 87863173 87863511 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582005,essv2583011,essv2583933,essv2584491,essv2583322 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 nsv527087 X 87897811 87900795 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703466 S 2026 1 0 "" dgv519n21 X 87900795 88139555 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv528918,nsv527903 M 2026 2 0 "" esv272173 X 87914929 87915002 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584731,essv2583632 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv507975 X 87919456 87925456 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621967,nssv620475,nssv617978,nssv623089 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1282209 X 87922258 87922258 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4038039 S 2 1 0 "" HuRef nsv513617 X 88046605 88047999 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626869 S 1 1 0 "" 1 esv1740896 X 88047261 88047261 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3794347 S 2 1 0 "" HuRef esv1343031 X 88047596 88047596 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3732400 S 2 1 0 "" HuRef nsv526633 X 88123254 88126865 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702955 S 2026 1 0 "" nsv528538 X 88126865 88150609 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705150 S 2026 1 0 "" nsv520439 X 88139439 88139555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697420 S 2026 0 1 "" esv996434 X 88179740 88179740 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571310 S 3 1 0 "" HuRef esv1678760 X 88179836 88179836 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205412 S 2 1 0 "" HuRef nsv425091 X 88179932 88179932 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443669 M 24 "" esv2316434 X 88239229 88239740 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4821178 S 1 0 1 "" NA18507 esv1149732 X 88269808 88269808 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082382 S 2 1 0 "" HuRef nsv507976 X 88287730 88293730 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617979,nssv620476 M 4 2 0 "" CHM,NA15510 nsv526634 X 88330836 88518753 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702956 S 2026 1 0 "" nsv510885 X 88336752 88361639 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618686 S 4 0 0 "" CHM esv28140 X 88342378 89156063 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20506,esv16562,esv12175 M 451 6 5 TGIF2LX NA11993,NA12004,NA12414,NA12776,NA15510,NA18502,NA18858,NA19099,NA19147,NA19225,NA19240 nsv508785 X 88343131 88361639 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619596,nssv620953,nssv623595 M 4 3 0 "" NA10860,NA15510,NA18994 esv1007468 X 88343511 89147579 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586572 S 3 1 0 TGIF2LX HuRef esv3398 X 88347646 88349076 CNV Duplication Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25839 S 1 1 0 Single Asian sample YH "" YH esv993070 X 88386448 88741899 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586020 S 3 1 0 "" HuRef nsv515220 X 88482000 88496960 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628407 S 1414 1 0 "" nsv433339 X 88564851 88680731 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463220 S 9 0 1 "" NA15510 esv1596769 X 88568652 88568705 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4257945 S 2 0 1 "" HuRef esv1001104 X 88626381 88626381 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583340 S 3 1 0 "" HuRef esv1286820 X 88626402 88626402 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4070187 S 2 1 0 "" HuRef nsv507977 X 88844070 88850070 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623090 S 4 1 0 "" NA18994 dgv2455e1 X 88881245 89150023 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4543,esv1396 M 271 0 0 TGIF2LX NA18566 esv274070 X 88882568 88882690 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580232,essv2580495,essv2580605,essv2579562 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv271957 X 88882574 88882755 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510095,essv2500838,essv2496678,essv2495409,essv2511210,essv2504468,essv2505117,essv2507959,essv2502295,essv2508070,essv2512268,essv2510366,essv2503440,essv2508361,essv2507705,essv2503807,essv2508839,essv2500345,essv2504063,essv2502987,essv2509098,essv2500054,essv2506311,essv2510048,essv2500935,essv2507231,essv2513391,essv2507325,essv2502429,essv2500549,essv2501370,essv2506980,essv2510816,essv2499801,essv2512069,essv2498036,essv2502212,essv2495778,essv2503867,essv2511552,essv2499588,essv2513118 M 157 42 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07346,NA07357,NA10847,NA11829,NA11830,NA11894,NA11919,NA11931,NA11993,NA11995,NA12003,NA12004,NA12045,NA12155,NA12414,NA12716,NA12749,NA12751,NA12761,NA12878,NA12891,NA18505,NA18507,NA18522,NA18558,NA18566,NA18593,NA18856,NA18870,NA18907,NA18912,NA18948,NA18956,NA19093,NA19102,NA19116,NA19225,NA19238,NA19240,NA19257 esv1000584 X 89326054 89327348 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586138 S 3 0 1 "" HuRef dgv2456e1 X 89341172 89754287 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv228,essv2276 M 271 0 0 "" NA18966 nsv6991 X 89396889 89434924 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6350,nssv3809,nssv10721,nssv891,nssv1849,nssv5236 M 9 6 0 "" NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv508786 X 89404713 89430919 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619597 S 4 1 0 "" NA10860 esv2123204 X 89464845 89467213 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4586307 S 1 0 1 "" NA18507 nsv507978 X 89595710 89601710 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621968,nssv620477 M 4 2 0 "" NA10860,NA15510 esv1165680 X 89598465 89598465 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088020 S 2 1 0 "" HuRef nsv507979 X 89612652 89618652 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621969 S 4 1 0 "" NA10860 nsv507980 X 89617368 89623368 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621970 S 4 1 0 "" NA10860 esv1092768 X 89775310 89775310 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4131159 S 2 1 0 "" HuRef nsv438143 X 89783994 89795187 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470187,nssv470189,nssv470188 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA12003,NA12761 nsv507981 X 89906166 89912166 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620478 S 4 1 0 "" NA15510 nsv6992 X 89991024 90022487 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3810 S 9 1 0 "" NA12878 dgv2457e1 X 90038492 90332892 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6571,esv528 M 271 0 0 "" NA18621 nsv9959 X 90058100 90065931 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25676 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 essv6070 X 90083888 90214529 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18621 esv27453 X 90112981 90114340 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17251 S 451 0 1 "" NA18916 esv1951865 X 90169848 90170881 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4892993 S 1 0 1 "" NA18507 esv3642 X 90169934 90170827 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26083 S 1 0 1 Single Asian sample YH "" YH nsv470357 X 90174063 90281957 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547045 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP01365 nsv528258 X 90191070 91378454 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704824 S 2026 1 0 PABPC5,PCDH11X nsv527159 X 90243592 90491905 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703553 S 2026 1 0 "" esv995426 X 90451696 90452319 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587213 S 3 0 1 "" HuRef nsv521121 X 90454657 90618307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697800 S 2026 1 0 PABPC5 nsv526620 X 90491368 90746151 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702940 S 2026 1 0 PABPC5 nsv516611 X 90558461 90618307 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669524,nssv674070,nssv678922 M 2026 3 0 PABPC5 nsv510846 X 90583023 90602187 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622641 S 4 0 1 "" NA18994 nsv433340 X 90631094 90720593 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463221 S 9 0 1 Samples from several populations that are part of the HapMap project. "" NA19129 esv26301 X 90856279 90865720 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10434 S 451 0 1 "" NA19114 nsv438144 X 90858112 90864984 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470194,nssv470193,nssv470191,nssv470190,nssv470192 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18871,NA19093,NA19094,NA19138,NA19145 nsv433341 X 90986041 91086303 CNV Loss Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463222 S 9 0 1 Samples from several populations that are part of the HapMap project. PCDH11X NA19240 nsv507982 X 91055079 91061079 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620479,nssv623091 M 4 2 0 PCDH11X NA15510,NA18994 esv27006 X 91304522 91312206 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13019 S 451 1 0 PCDH11X NA12414 esv1001030 X 91425662 92262023 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586087 S 3 1 0 PCDH11X HuRef esv22341 X 91427226 92258448 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10277,esv15966,esv14497,esv13300 M 451 1 9 PCDH11X NA06985,NA11993,NA11995,NA12004,NA12044,NA12414,NA12749,NA12828,NA18508,NA19099 nsv510548 X 91568754 91574754 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618482,nssv622204 M 4 0 2 PCDH11X CHM,NA10860 nsv522787 X 92156083 92675209 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698431 S 2026 1 0 "" nsv438145 X 92200804 92224565 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470196,nssv470195 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA19159,NA19200 esv1000837 X 92209776 92224260 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586013 S 3 1 0 "" HuRef esv1522572 X 92265158 92265208 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356344 S 2 0 1 "" HuRef nsv516563 X 92390816 92602856 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658585,nssv704156,nssv678487,nssv669180,nssv700145,nssv670218,nssv672609,nssv703698,nssv697303 M 2026 9 0 "" nsv521321 X 92590942 92675209 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697928 S 2026 1 0 "" esv267698 X 92630714 92631060 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505084,essv2502853,essv2493414,essv2498282,essv2500388,essv2500682,essv2496068,essv2497954,essv2495100 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA11995,NA12156,NA12763,NA18526,NA18537,NA18571,NA18603,NA18945,NA18964 nsv6993 X 92678106 92728086 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6351 S 9 0 1 "" NA12156 nsv512689 X 92681042 92688399 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625311 S 1 0 1 "" 1 nsv510847 X 92681960 92688767 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618878 S 4 0 1 "" NA10860 nsv436627 X 92682532 92689054 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465826 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 nsv499384 X 92682952 92688164 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586138 S 9 0 1 "" nsv425078 X 92682956 92688163 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443656 M 24 "" esv23307 X 92682966 92688139 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14945 S 451 0 13 "" NA07037,NA11894,NA11993,NA11995,NA12006,NA12156,NA12239,NA12776,NA18909,NA19108,NA19114,NA19147,NA19225 nsv829384 X 92682990 92687953 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430323 S 31 0 1 "" AK14 nsv515221 X 92683152 92687808 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628408 S 1414 0 1 "" nsv6994 X 92957398 92989727 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6352 S 9 1 0 "" NA12156 esv2356207 X 92967882 92968324 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4980093 S 1 0 1 "" NA18507 esv23957 X 93073492 93074671 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19167 S 451 0 2 "" NA18508,NA19225 nsv510848 X 93159842 93209083 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618879 S 4 0 1 "" NA10860 nsv527156 X 93238457 93316234 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703548 S 2026 1 0 "" esv22563 X 93287660 93290797 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14186 S 451 0 2 "" NA18508,NA18909 nsv438146 X 93288229 93290555 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470202,nssv470199,nssv470198,nssv470201,nssv470200 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA10838,NA18503,NA18506,NA18856,NA18945 nsv517706 X 93290250 93290555 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684920,nssv683361,nssv675396,nssv665510,nssv693323,nssv693888,nssv682472,nssv668226,nssv670625,nssv654795,nssv656345,nssv686734,nssv693127,nssv666709,nssv657090,nssv652915,nssv658439,nssv693978,nssv682618,nssv653105 M 2026 0 20 "" nsv515223 X 93309200 93315704 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628409 S 1414 0 1 "" nsv442811 X 93309217 93316230 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv519792 X 93499462 94130877 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697129,nssv685411,nssv658666,nssv706003,nssv696689,nssv690300,nssv673464,nssv661264 M 2026 6 2 "" nsv6995 X 93746494 93779596 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5237 S 9 1 0 "" NA19129 esv273522 X 93765014 93765353 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582237,essv2583273 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv507983 X 94001735 94007735 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623092 S 4 1 0 "" NA18994 nsv524998 X 94201047 94262645 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701029 S 2026 1 0 "" nsv525744 X 94225395 94268106 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701911 S 2026 1 0 "" nsv517225 X 94268106 94307617 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv657544,nssv686591,nssv671280,nssv664375,nssv667192,nssv691149,nssv652414,nssv651860,nssv685832,nssv654066,nssv656739,nssv654488,nssv689163,nssv679991 M 2026 14 0 "" esv1293418 X 94281666 94281666 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4242771 S 2 1 0 "" HuRef esv1671858 X 94282352 94282352 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674863 S 2 1 0 "" HuRef nsv520642 X 94284336 94313371 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694392 S 2026 0 1 "" esv24696 X 94478302 94483110 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14518 S 451 0 1 "" NA06985 nsv525572 X 94498823 94861918 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701711 S 2026 0 1 MIR548AE1 nsv522611 X 94542438 94761526 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706004 S 2026 1 0 MIR548AE1 nsv470358 X 94583555 94806819 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547046 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548AE1 HGDP01363 esv27642 X 94584826 94588520 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9911 S 451 0 2 "" NA19114,NA19129 nsv518968 X 94627287 94717906 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696436 S 2026 1 0 "" nsv6996 X 94721617 94740089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5238 S 9 1 0 "" NA19129 esv2635757 X 94780770 94781774 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5295904 S 1 1 0 MIR548AE1 NA18507 nsv518637 X 94806819 94902118 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696086 S 2026 1 0 MIR548AE1 nsv515224 X 94902456 95033448 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628410 S 1414 0 1 MIR548AE1 nsv512690 X 94937247 94939034 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625312 S 1 0 1 MIR548AE1 1 esv1202512 X 94937503 94938136 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4079673 S 2 0 1 MIR548AE1 HuRef esv1010819 X 94937505 94938128 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586435 S 3 0 1 MIR548AE1 HuRef esv28437 X 94937505 94938128 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11699 S 451 4 13 MIR548AE1 NA07045,NA11894,NA11995,NA12006,NA12044,NA12156,NA12749,NA12828,NA12878,NA18502,NA18508,NA18861,NA18907,NA19099,NA19108,NA19114,NA19240 nsv820885 X 94937505 94938128 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420202 S 1 0 1 MIR548AE1 NA10851 nsv6997 X 95173047 95213904 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3811,nssv6354,nssv893,nssv5240 M 9 0 4 MIR548AE1 NA12156,NA12878,NA19129,NA19240 nsv510849 X 95187981 95207977 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620040,nssv618880,nssv617448 M 4 0 3 MIR548AE1 CHM,NA10860,NA15510 nsv470359 X 95188945 95340413 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547047 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations MIR548AE1 HGDP00356 nsv520414 X 95193874 95272249 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697401 S 2026 1 0 MIR548AE1 esv1000087 X 95195530 95206700 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565032 S 3 0 1 MIR548AE1 HuRef nsv435893 X 95197687 95206188 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465827 S 2 0 1 MIR548AE1 NA15510 esv1722998 X 95199435 95205519 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4042466 S 2 0 1 MIR548AE1 HuRef nsv499217 X 95202481 95205540 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586139 S 9 0 1 MIR548AE1 nsv515225 X 95385144 95393592 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628411 S 1414 0 1 "" nsv6998 X 95388857 95434148 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8749 S 9 0 1 "" NA12156 esv2625482 X 95423591 95424528 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5392439 S 1 1 0 "" NA18507 esv270677 X 95423967 95424286 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511809,essv2510723,essv2496215,essv2509011,essv2498618,essv2494070,essv2513474,essv2509276,essv2507379,essv2500558,essv2497642,essv2511951,essv2498129 M 157 13 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18501,NA18511,NA18522,NA18858,NA18871,NA18907,NA18909,NA18912,NA18956,NA19147,NA19238,NA19240 esv272916 X 95423984 95424313 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582073,essv2582832 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892 nsv425099 X 95424012 95433448 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443677 M 24 "" nsv507984 X 95493901 95499901 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623093 S 4 1 0 "" NA18994 nsv829385 X 95515584 95516524 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433400 S 31 0 1 "" NA18972 nsv519679 X 95677475 95721034 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698961,nssv657545,nssv688981 M 2026 3 0 "" nsv521390 X 95812910 95822497 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694441 S 2026 1 0 "" nsv507985 X 95883369 95889369 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620480,nssv617980 M 4 2 0 DIAPH2 CHM,NA15510 dgv520n21 X 95958702 96290531 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521409,nsv515760 M 2026 9 0 DIAPH2,RPA4 nsv510549 X 95966349 95972349 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618483 S 4 0 1 DIAPH2 CHM esv1383687 X 96081284 96082949 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3729998 S 2 0 0 DIAPH2 HuRef nsv507986 X 96232507 96238507 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620481 S 4 1 0 DIAPH2 NA15510 esv32603 X 96281290 96281519 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96590 S 51 0 1 DIAPH2 22011 nsv511658 X 96466899 96498254 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626294 S 1 0 1 DIAPH2 1 nsv512691 X 96493177 96495541 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625313 S 1 0 1 DIAPH2 1 esv27347 X 96493504 96495352 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15366 S 451 0 1 DIAPH2 NA12776 nsv7000 X 96497428 96521491 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3812 S 9 1 0 DIAPH2 NA12878 nsv818033 X 96675296 96717361 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417756 S 112 1 0 DIAPH2 NA18577 dgv64n50 X 96741626 96813207 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv511669,nsv512692 M 1 0 1 DIAPH2 1 nsv523507 X 96744224 96829822 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699278 S 2026 1 0 "" esv32779 X 96816555 96823284 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99530 S 51 1 0 "" 22335 dgv2458e1 X 96822230 96942273 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22973,essv4263,esv94 M 271 0 0 "" NA07357,NA18603 nsv438147 X 96857781 96872057 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470203 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18611 nsv516457 X 96860661 96867445 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669265,nssv668522,nssv669768 M 2026 3 0 "" esv267746 X 96881863 96882165 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510751,essv2504077 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18501,NA18505 nsv517286 X 96883309 96988745 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667786,nssv659698,nssv678547,nssv693223,nssv676651,nssv654558,nssv678996,nssv661623,nssv690770,nssv681206,nssv654819,nssv658401,nssv678980,nssv681708,nssv672153,nssv685683,nssv664701,nssv679634,nssv666984,nssv654202 M 2026 13 7 "" nsv9960 X 96898223 96902918 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26587 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19173 nsv525975 X 97210487 97295184 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702193 S 2026 1 0 "" nsv7001 X 97229843 97273319 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8750 S 9 0 1 "" NA12156 nsv818034 X 97236484 97320031 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417762 S 112 1 0 "" NA18978 nsv520216 X 97255485 97495953 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663635,nssv661937 M 2026 2 0 "" esv2193335 X 97257872 97258241 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4582739 S 1 0 1 "" NA18507 esv1384627 X 97257979 97258111 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4282653 S 2 0 1 "" HuRef nsv7002 X 97437041 97465355 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10722 S 9 1 0 "" NA18956 nsv524372 X 97588488 97643282 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700284 S 2026 0 1 "" nsv526383 X 97590136 97724538 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702680 S 2026 1 0 "" nsv525843 X 97590136 97881152 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702036 S 2026 1 0 "" nsv524646 X 97654609 97843727 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700612 S 2026 1 0 "" nsv519242 X 97700960 97720431 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696735 S 2026 1 0 "" dgv521n21 X 97700960 97824742 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525519,nsv526259,nsv517679 M 2026 8 0 "" nsv818035 X 97710522 97796606 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417763 S 112 1 0 "" NA18978 esv270071 X 97715276 97715599 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2503187,essv2502919,essv2511822,essv2502943,essv2493652,essv2494596,essv2507649,essv2505858,essv2495514,essv2503088,essv2502358,essv2493099,essv2506598,essv2499173,essv2499791,essv2504341 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11881,NA12156,NA18499,NA18507,NA18517,NA18550,NA18576,NA18861,NA18916,NA18943,NA18948,NA18951,NA19108,NA19114,NA19225 nsv525739 X 97720431 97824742 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701904 S 2026 0 1 "" nsv522254 X 97783782 97843727 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695034 S 2026 1 0 "" nsv520300 X 97783782 97983069 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697335 S 2026 1 0 "" nsv7003 X 97823186 97868571 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6355 S 9 0 1 "" NA12156 nsv7004 X 98024979 98069484 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4620 S 9 0 1 "" NA19129 nsv424959 X 98105949 98111715 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443537 M 24 "" nsv7005 X 98131284 98158415 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8752,nssv894 M 9 2 0 "" NA12156,NA19240 esv274223 X 98150926 98153297 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584247,essv2583641 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv271624 X 98150926 98153506 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2540813,essv2525937,essv2523360,essv2576795,essv2550349,essv2554090,essv2547558,essv2564350,essv2559495,essv2565482,essv2563979,essv2530462,essv2540192,essv2552360,essv2532442,essv2569328,essv2578661,essv2550072,essv2558901,essv2537134,essv2539175,essv2561663,essv2532616,essv2567813,essv2535545,essv2542102,essv2543611,essv2527801,essv2539278,essv2578500,essv2555225,essv2575501,essv2575004,essv2538743,essv2526688,essv2560801,essv2574609,essv2530343,essv2560400,essv2549641,essv2571177,essv2545956,essv2574122,essv2551287,essv2536157,essv2537834,essv2563263 M 157 47 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA10847,NA11831,NA11918,NA12004,NA12154,NA12234,NA12287,NA12717,NA12751,NA12776,NA12812,NA12828,NA18486,NA18489,NA18502,NA18505,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18523,NA18576,NA18577,NA18608,NA18856,NA18870,NA18907,NA18912,NA18940,NA18943,NA19099,NA19102,NA19108,NA19114,NA19137,NA19138,NA19141,NA19190,NA19225,NA19238,NA19239,NA19240,NA19257 nsv7006 X 98306296 98374209 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5241,nssv8753 M 9 0 2 "" NA12156,NA19129 esv2752340 X 98373457 99654701 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6985909,essv6985910 M 771 1 0 LOC442459,PCDH19 SPC_83 esv1496918 X 98726343 98726752 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4180994 S 2 0 0 LOC442459 HuRef nsv510550 X 99017948 99023948 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624101 S 4 0 1 LOC442459 NA18994 esv1335652 X 99045554 99045606 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763390 S 2 0 1 LOC442459 HuRef nsv7007 X 99367948 99438946 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1850,nssv8754 M 9 0 2 PCDH19 NA12156,NA18555 nsv7008 X 99627789 99636177 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8755 S 9 0 1 "" NA12156 nsv510850 X 99869177 99969362 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622643 S 4 0 1 CSTF2,SYTL4 NA18994 nsv7009 X 99914896 99947382 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6356 S 9 1 0 "" NA12156 esv1247987 X 99994948 99994948 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3838498 S 2 1 0 NOX1 HuRef nsv7011 X 99999616 100032586 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1851 S 9 1 0 NOX1 NA18555 nsv7012 X 100106704 100141342 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv895 S 9 1 0 ARL13A NA19240 nsv517937 X 100124594 100157014 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695349 S 2026 1 0 ARL13A,TRMT2B nsv515758 X 100128961 100180211 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697431,nssv664698,nssv657825 M 2026 3 0 ARL13A,TRMT2B nsv7013 X 100136447 100181453 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8756 S 9 0 1 TRMT2B NA12156 nsv425546 X 100231826 100231972 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444124 M 24 TMEM35 nsv524411 X 100332620 100519293 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700333 S 2026 0 1 BTK,DRP2,TAF7L,TIMM8A esv1282718 X 100574685 100574685 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4292941 S 2 1 0 ARMCX4 HuRef esv2479084 X 100635513 100636294 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5303952 S 1 1 0 ARMCX4 NA18507 esv1096204 X 100635693 100635693 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4026241 S 2 1 0 ARMCX4 HuRef nsv7452 X 100705379 100790633 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5242,nssv11219,nssv10723,nssv6357 M 9 0 0 ARMCX3,ARMCX6 NA12156,NA15510,NA18956,NA19129 nsv524711 X 100737964 100767513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700696 S 2026 1 0 ARMCX3,ARMCX6 nsv522728 X 100737964 100797722 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698360 S 2026 1 0 ARMCX2,ARMCX3,ARMCX6 nsv499669 X 100739177 100753235 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585585 S 9 0 0 "" nsv499128 X 100743834 100757892 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585587 S 9 0 0 ARMCX6 nsv207 X 100751968 100781832 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv207 S 1 0 0 ARMCX3,ARMCX6 NA15510 esv28576 X 100941990 100954423 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16322,esv15270 M 451 4 0 "" NA07037,NA11995,NA12776,NA12878 nsv7014 X 100942811 100972781 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3814,nssv9486,nssv3813 M 9 2 0 "" NA12878,NA18517 nsv515160 X 100943104 100972520 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628412 S 1414 0 0 "" nsv7015 X 100944033 100988732 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8757 S 9 0 1 NXF5 NA12156 esv987918 X 100978088 100978175 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3567665 S 3 0 1 NXF5 HuRef esv1733154 X 101041917 101041969 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151731 S 2 0 1 ZMAT1 HuRef nsv7016 X 101130334 101163404 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8758 S 9 1 0 "" NA12156 nsv469670 X 101161967 101328146 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649600 M 265 0 0 Samples from several populations that are part of the HapMap project. BEX5,TCEAL2,TCEAL6 nsv526716 X 101724389 102075966 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703056 S 2026 1 0 ARMCX5,ARMCX5-GPRASP2,BHLHB9,GPRASP1,GPRASP2,LOC100287765 nsv7017 X 101812263 101844963 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5243 S 9 1 0 ARMCX5-GPRASP2 NA19129 nsv513618 X 102249743 102249832 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626870 S 1 1 0 "" 1 esv270596 X 102249797 102250642 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510146,essv2500856,essv2510973,essv2503245,essv2506811,essv2504427,essv2505104,essv2502338,essv2499436,essv2495383,essv2510322,essv2508576,essv2507772,essv2503816,essv2505048,essv2508726,essv2497238,essv2511302,essv2500590,essv2500163,essv2507598,essv2512694,essv2508694,essv2512908,essv2505385,essv2495117,essv2512834,essv2503961,essv2499513 M 157 29 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07357,NA11829,NA11830,NA11831,NA11881,NA11918,NA11993,NA11995,NA12004,NA12044,NA12287,NA12414,NA12717,NA12751,NA12761,NA12828,NA18532,NA18552,NA18570,NA18571,NA18573,NA18576,NA18577,NA18592,NA18609,NA18952,NA18964,NA18980 esv32775 X 102539324 102539745 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100646 S 51 1 0 "" 21656 esv268179 X 102578622 102578958 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496882,essv2496342,essv2493693,essv2508914,essv2498565,essv2494083,essv2513523,essv2507296,essv2497521,essv2502149 M 157 10 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18510,NA18517,NA18522,NA18858,NA18871,NA18907,NA18912,NA19147,NA19257 esv270570 X 102666657 102667562 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511371,essv2507682,essv2512754,essv2504945,essv2505459,essv2495139,essv2500724 M 157 7 0 Samples from several populations that are part of the HapMap project. "" NA18570,NA18576,NA18577,NA18942,NA18952,NA18964,NA18973 esv24480 X 102743597 102745455 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20856 S 451 0 1 "" NA18907 esv7229 X 102884813 102949058 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29670 S 1 0 0 PLP1 SJK dgv2459e1 X 102969057 103341717 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20764,esv829 M 271 0 0 FAM199X,H2BFM,H2BFWT,H2BFXP,LOC286437,MCART6,RAB9B,TMSB15B,ZCCHC18 NA12146 nsv7018 X 103023881 103052908 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3815,nssv6358 M 9 0 2 "" NA12156,NA12878 esv988183 X 103032933 103042114 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565308 S 3 0 1 "" HuRef esv2491328 X 103052793 103053651 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5305328 S 1 1 0 "" NA18507 esv269799 X 103053189 103053274 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513915 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv469772 X 103069908 103262340 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649793 M 265 0 0 Samples from several populations that are part of the HapMap project. H2BFM,H2BFWT,H2BFXP,LOC286437,MCART6,TMSB15B,ZCCHC18 nsv519626 X 103074723 103289727 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv672582,nssv677802,nssv673366,nssv671922,nssv657215,nssv683117 M 2026 6 0 H2BFM,H2BFWT,H2BFXP,LOC286437,MCART6,TMSB15B,ZCCHC18 nsv7453 X 103081761 103248997 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1853,nssv3817,nssv11221,nssv3818,nssv5244,nssv9781,nssv11220,nssv896,nssv1852,nssv11222,nssv5245,nssv1854,nssv3816 M 9 0 0 H2BFM,H2BFWT,H2BFXP,MCART6,TMSB15B,ZCCHC18 NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 esv27035 X 103097412 103111669 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14084 S 451 1 0 TMSB15B NA19114 esv1007027 X 103099697 103215332 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564812 S 3 0 0 H2BFM,H2BFWT,H2BFXP,TMSB15B HuRef nsv208 X 103115116 103162431 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv208 S 1 0 0 H2BFWT,H2BFXP NA15510 dgv63n47 X 103128760 103192132 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499145,nsv499125 M 9 0 0 H2BFM,H2BFWT nsv510851 X 103128984 103144587 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622644,nssv617449 M 4 0 2 "" CHM,NA18994 dgv2460e1 X 103129706 103204511 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv19368,essv19301,essv23845 M 271 0 0 H2BFM,H2BFWT,H2BFXP NA07019,NA07022 dgv5n1 X 103135049 103222513 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis nsv210,nsv209 M 1 0 0 H2BFM,H2BFWT,H2BFXP NA15510 esv22275 X 103145310 103192185 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10714 S 451 1 0 H2BFM,H2BFWT NA12414 esv32549 X 103154321 103155606 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94902,essv99222 M 51 0 2 H2BFWT 22231,22275 esv33973 X 103155821 103156213 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100879 S 51 0 1 "" 21656 esv2750614 X 103164319 103165678 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100706 S 51 1 0 "" 21656 esv32540 X 103165638 103165869 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100950,essv95132,essv101367,essv96167,essv96470,essv94172 M 51 6 0 "" 21693,21721,21805,22007,22261,22394 esv33789 X 103165869 103166005 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100889 S 51 0 1 "" 21656 esv32928 X 103166110 103166597 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101070,essv95057,essv101299,essv100190,essv96312 M 51 0 5 "" 21693,21721,21805,22286,22371 nsv508787 X 103180358 103192330 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623596,nssv618149 M 4 2 0 H2BFM CHM,NA18994 nsv9961 X 103210895 103223981 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26334,nssv27453 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA12155,NA19007 nsv7019 X 103507619 103540908 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv897 S 9 1 0 "" NA19240 nsv522828 X 103563009 103579644 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698478 S 2026 1 0 "" nsv515495 X 103567018 103611659 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv667515,nssv653318,nssv665351,nssv675067 M 2026 4 0 "" nsv521379 X 104043600 104067801 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694440 S 2026 0 1 IL1RAPL2 esv259608 X 104139097 104139445 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394230,essv2393949,essv2393858,essv2393682,essv2393973,essv2394359 M 6 0 0 Samples from several populations that are part of the HapMap project. IL1RAPL2 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv259738 X 104139113 104139461 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396758,essv2400217,essv2394764,essv2399053,essv2398467,essv2401110,essv2400869,essv2398906,essv2395794,essv2396239,essv2397583,essv2396667,essv2400740,essv2395410,essv2399175,essv2397310,essv2401033,essv2396948,essv2395608,essv2397666,essv2397812,essv2399274,essv2394962,essv2396518,essv2399317,essv2396121,essv2396638,essv2395722,essv2396057,essv2400713,essv2394943,essv2400950,essv2399580,essv2395053,essv2399866,essv2397859,essv2400432,essv2398974,essv2400181,essv2399930,essv2399474,essv2400096,essv2398242,essv2395337,essv2395855,essv2397517,essv2395429,essv2398187,essv2397154,essv2400800,essv2397765,essv2397012,essv2400999,essv2395182,essv2394816,essv2399756,essv2399509,essv2397993,essv2398704,essv2396002,essv2397072,essv2400507 M 144 0 0 Samples from several populations that are part of the HapMap project. IL1RAPL2 NA07000,NA07037,NA07357,NA10851,NA11894,NA11931,NA11993,NA11995,NA12004,NA12006,NA12044,NA12414,NA12717,NA12749,NA12776,NA12878,NA12891,NA12892,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18570,NA18571,NA18573,NA18577,NA18592,NA18603,NA18608,NA18856,NA18858,NA18861,NA18909,NA18916,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18956,NA18973,NA19099,NA19108,NA19114,NA19129,NA19137,NA19147,NA19190,NA19238,NA19239,NA19240 esv1007229 X 104139197 104139197 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3569386 S 3 1 0 IL1RAPL2 HuRef nsv425150 X 104139343 104139343 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443728 M 24 IL1RAPL2 dgv2461e1 X 104189662 104301693 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv236,essv14871 M 271 0 0 IL1RAPL2 NA18522 esv22969 X 104304279 104304731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12841 S 451 0 1 IL1RAPL2 NA12006 esv1011056 X 104422298 104422877 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587189 S 3 0 1 IL1RAPL2 HuRef esv1236936 X 104438894 104438894 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3908298 S 2 1 0 IL1RAPL2 HuRef nsv7020 X 104447387 104471145 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3819 S 9 1 0 IL1RAPL2 NA12878 esv271289 X 104784804 104785141 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2556956,essv2552337,essv2551908,essv2569202,essv2527218,essv2566892,essv2568970,essv2539385,essv2575548,essv2575048,essv2523973,essv2530324,essv2568809,essv2551247 M 157 14 0 Samples from several populations that are part of the HapMap project. IL1RAPL2 NA18501,NA18502,NA18504,NA18508,NA18522,NA18853,NA18861,NA18912,NA19099,NA19102,NA19129,NA19141,NA19147,NA19257 esv2752312 X 104836584 106253758 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6986336,essv6983047,essv6988619 M 771 1 0 CLDN2,CXorf57,IL1RAPL2,MORC4,MUM1L1,NRK,NUP62CL,RBM41,RIPPLY1,RNF128,SERPINA7,TBC1D8B BEC_536 nsv521259 X 105065788 105564090 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697872 S 2026 1 0 MUM1L1,NRK,SERPINA7 esv2636339 X 105077169 105078667 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5178384 S 1 0 1 NRK NA18507 esv2140378 X 105077616 105078306 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4611938 S 1 0 1 NRK NA18507 esv4419 X 105077739 105078176 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26860 S 1 0 1 Single Asian sample YH NRK YH esv2482028 X 105077819 105078121 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5321936 S 1 0 1 NRK NA18507 nsv7022 X 105134687 105168749 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv898 S 9 1 0 SERPINA7 NA19240 esv1485860 X 105149394 105149394 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3674054 S 2 1 0 "" HuRef nsv528467 X 105165017 105241033 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705069 S 2026 1 0 SERPINA7 esv2289988 X 105220802 105221260 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4793754 S 1 0 1 "" NA18507 esv3812 X 105220928 105221146 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26253 S 1 0 1 Single Asian sample YH "" YH esv2644202 X 105220997 105221073 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5307988 S 1 0 1 "" NA18507 nsv7023 X 105250485 105282339 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6359 S 9 1 0 "" NA12156 nsv508788 X 105358025 105403035 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623597 S 4 1 0 "" NA18994 nsv7455 X 105369795 105457848 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv899,nssv10724,nssv9487,nssv900 M 9 0 0 "" NA18517,NA18956,NA19240 nsv829387 X 105378948 105432819 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440108 S 31 1 0 "" NA18537 nsv7024 X 105399469 105412816 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6360 S 9 1 0 "" NA12156 nsv513726 X 105401592 105426295 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626978 S 1 0 0 "" 1 nsv511084 X 105405795 105420309 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624331,nssv621616 M 4 0 0 "" NA15510,NA18994 nsv513727 X 105406864 105419257 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626979 S 1 0 0 "" 1 esv26049 X 105410026 105417967 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20717 S 451 1 0 "" NA12156 esv33238 X 105416245 105581341 CNV Gain de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94895 S 51 1 0 "" 22231 dgv2462e1 X 105424192 105568433 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv23238,esv359 M 271 0 0 "" NA07029 nsv9962 X 105432634 105443921 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26945,nssv25728,nssv26601,nssv25058,nssv26313,nssv27581 M 31 6 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048,NA18504,NA18563,NA19144,NA19173 esv259908 X 105485624 105496028 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2398646 S 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12489 nsv7025 X 105488674 105533290 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8759 S 9 0 1 "" NA12156 esv268200 X 105495929 105496014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2516557 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12814 nsv9963 X 105558381 105560642 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25911,nssv26956,nssv28224 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18853,NA18860,NA19144 esv1562794 X 105651029 105651029 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4200364 S 2 1 0 "" HuRef esv24156 X 105693672 105694474 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14115 S 451 0 4 "" NA18858,NA18909,NA19108,NA19129 nsv510852 X 105822026 105830759 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618881 S 4 0 1 RNF128 NA10860 nsv519484 X 106108146 106355364 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656377,nssv697798,nssv701299,nssv696321,nssv696747,nssv673860 M 2026 6 0 CXorf41,MORC4,NUP62CL,RBM41 nsv7026 X 106174642 106219983 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6361 S 9 0 1 RBM41 NA12156 nsv7027 X 106331156 106363272 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1855 S 9 1 0 CXorf41,NUP62CL NA18555 esv1568973 X 106334638 106334638 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3630911 S 2 1 0 NUP62CL HuRef nsv7028 X 106421864 106460711 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6362,nssv2836 M 9 2 0 "" NA12156,NA18555 esv269132 X 106548100 106548426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571778,essv2526268,essv2542582,essv2545639,essv2548493,essv2551985,essv2520671,essv2520881,essv2557549,essv2556929,essv2552439,essv2532297,essv2569400,essv2550057,essv2536863,essv2539064,essv2569704,essv2527354,essv2561554,essv2544920,essv2563019,essv2523749,essv2552866,essv2541170,essv2538423,essv2542724,essv2540298,essv2524577,essv2534821,essv2561222,essv2539727,essv2519841,essv2560094,essv2522089,essv2566009,essv2531225,essv2532838,essv2567761,essv2528828,essv2567547,essv2541797,essv2570081,essv2572390,essv2559154,essv2566762,essv2550861,essv2543565,essv2539322,essv2533926,essv2573252,essv2566445,essv2529909,essv2556115,essv2534338,essv2522577,essv2531542,essv2573716,essv2571976,essv2526867,essv2538595,essv2526612,essv2560766,essv2524213,essv2568780,essv2560260,essv2549726,essv2571436,essv2574467,essv2551560,essv2537967 M 157 70 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA11840,NA11918,NA11919,NA12003,NA12045,NA12489,NA12716,NA18498,NA18499,NA18501,NA18502,NA18505,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18561,NA18562,NA18563,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18609,NA18638,NA18853,NA18858,NA18870,NA18912,NA18916,NA18942,NA18948,NA18949,NA18956,NA18959,NA18960,NA18961,NA18964,NA18973,NA19005,NA19108,NA19114,NA19116,NA19129,NA19147,NA19190,NA19225,NA19238,NA19240,NA19257 esv273092 X 106548100 106548426 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581777,essv2582694,essv2583106 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892 nsv425009 X 106548129 106548129 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443587 M 24 "" nsv510853 X 106573124 106678182 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622645 S 4 0 1 "" NA18994 nsv7029 X 106574760 106604510 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5246 S 9 1 0 "" NA19129 esv1615962 X 106631418 106631418 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3944100 S 2 1 0 "" HuRef nsv7030 X 106668497 106702681 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8760 S 9 1 0 "" NA12156 nsv508789 X 106933334 107024377 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623598 S 4 1 0 MID2 NA18994 esv2582607 X 107079287 107080084 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5170458 S 1 1 0 "" NA18507 esv1169199 X 107079616 107079616 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3659624 S 2 1 0 "" HuRef nsv525651 X 107096535 107131209 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701806 S 2026 1 0 TEX13B esv9265 X 107565386 107565468 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31706 S 1 1 0 COL4A6 SJK nsv519041 X 107598562 108067816 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696510 S 2026 1 0 COL4A5,IRS4 nsv7031 X 107739895 107772642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1856 S 9 1 0 COL4A5 NA18555 nsv521532 X 107874428 107875058 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698149 S 2026 1 0 "" nsv511085 X 107898346 107907260 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618687 S 4 0 0 "" CHM esv25110 X 107898692 107904580 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20819 S 451 0 1 "" NA19225 nsv508791 X 107899310 107907260 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619598,nssv623599,nssv620954 M 4 3 0 "" NA10860,NA15510,NA18994 nsv507987 X 108009318 108015318 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617981,nssv621971,nssv620482 M 4 3 0 "" CHM,NA10860,NA15510 esv268318 X 108224806 108224891 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517375 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA11918 esv27341 X 108239852 108243509 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10135 S 451 0 2 "" NA19108,NA19147 esv4427 X 108342410 108342670 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26868 S 1 0 1 Single Asian sample YH "" YH esv1326767 X 108496077 108496191 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3829072 S 2 0 1 "" HuRef dgv2463e1 X 108665657 108867548 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13793,esv67,essv15891 M 271 0 0 ACSL4,KCNE1L,NXT2 NA19153,NA19223 nsv7033 X 108730956 108762833 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv902 S 9 1 0 KCNE1L NA19240 nsv438149 X 108781903 108860497 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470205,nssv470210,nssv470204,nssv470209,nssv470207,nssv470206 M 269 0 6 Samples from several populations that are part of the HapMap project. ACSL4 NA18500,NA18501,NA18503,NA18504,NA19153,NA19223 nsv7034 X 108803375 108842950 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4621 S 9 0 1 ACSL4 NA19129 nsv523984 X 108804429 108853081 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699840 S 2026 1 0 ACSL4 nsv526392 X 108936674 109046420 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702691 S 2026 1 0 "" nsv7035 X 108967507 108980830 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8761 S 9 0 1 "" NA12156 esv1372383 X 109214261 109214261 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3996349 S 2 1 0 TMEM164 HuRef nsv518116 X 109310685 109517363 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695532 S 2026 1 0 AMMECR1,SNORD96B nsv7036 X 109371358 109416124 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8762 S 9 0 1 AMMECR1 NA12156 dgv2464e1 X 109468427 109598137 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4909,esv182 M 271 0 0 AMMECR1,RGAG1 NA18561 nsv438150 X 109521873 109526711 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470211 S 269 0 1 Samples from several populations that are part of the HapMap project. AMMECR1 NA19211 esv271787 X 109721757 109722110 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2512573,essv2494174,essv2495004,essv2509328,essv2507424,essv2495562,essv2506635,essv2510924 M 157 8 0 Samples from several populations that are part of the HapMap project. "" NA18489,NA18502,NA18520,NA18909,NA18912,NA18916,NA19108,NA19116 nsv7037 X 109814549 109859331 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5247 S 9 0 1 CHRDL1 NA19129 esv1358058 X 109819583 109819583 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4051706 S 2 1 0 CHRDL1 HuRef esv21564 X 109825284 109828857 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14139 S 451 0 5 CHRDL1 NA18523,NA18907,NA19129,NA19147,NA19225 nsv442813 X 109825336 109826953 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CHRDL1 nsv515161 X 109825384 109828208 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628413 S 1414 0 1 CHRDL1 nsv438151 X 109825861 109827815 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470214,nssv470213,nssv470212 M 269 0 3 Samples from several populations that are part of the HapMap project. CHRDL1 NA18501,NA19127,NA19160 nsv507988 X 109908446 109914446 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617982,nssv621972,nssv620483,nssv623094 M 4 4 0 CHRDL1 CHM,NA10860,NA15510,NA18994 esv989276 X 110008550 110008550 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578497 S 3 1 0 "" HuRef esv1713090 X 110008663 110008663 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3635414 S 2 1 0 "" HuRef nsv7038 X 110534951 110569019 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8763 S 9 1 0 DCX NA12156 nsv7039 X 110890904 110935970 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8764 S 9 0 1 TRPC5 NA12156 nsv7040 X 111038459 111083017 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8766 S 9 0 1 TRPC5 NA12156 nsv520386 X 111046063 111072897 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697385 S 2026 1 0 TRPC5 nsv526892 X 111051412 111058142 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703250 S 2026 1 0 TRPC5 esv268206 X 111116193 111122266 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521116,essv2536749,essv2568406,essv2570486,essv2551981,essv2547467,essv2559663,essv2530846,essv2569494,essv2531007,essv2554692 M 157 11 0 Samples from several populations that are part of the HapMap project. TRPC5 NA07346,NA11894,NA11920,NA11995,NA12044,NA12489,NA12717,NA12776,NA12873,NA18508,NA18573 nsv510551 X 111224830 111230830 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621374 S 4 0 1 ZCCHC16 NA15510 nsv516845 X 111367654 111531158 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673645,nssv697611,nssv654397,nssv697855,nssv658812,nssv698960 M 2026 6 0 ZCCHC16 nsv508792 X 111423882 111464704 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620955 S 4 1 0 ZCCHC16 NA15510 nsv7041 X 111438494 111448011 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6363 S 9 1 0 ZCCHC16 NA12156 nsv513620 X 111440219 111440795 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626872 S 1 1 0 ZCCHC16 1 esv274504 X 111444386 111450437 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584060,essv2583575 M 7 2 0 Samples from several populations that are part of the HapMap project. ZCCHC16 NA19238,NA19240 esv270032 X 111444389 111450475 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565676,essv2540858,essv2546480,essv2526101,essv2542451,essv2525467,essv2544332,essv2551995,essv2547252,essv2529418,essv2577926,essv2553665,essv2537680,essv2528603,essv2539941,essv2557519,essv2557053,essv2569228,essv2536805,essv2527376,essv2561637,essv2564912,essv2534604,essv2567815,essv2569962,essv2539336,essv2533839,essv2567046,essv2573421,essv2529708,essv2575675,essv2575012,essv2538591,essv2526507,essv2574825,essv2549920,essv2551637,essv2533258,essv2563409 M 157 39 0 Samples from several populations that are part of the HapMap project. ZCCHC16 NA07051,NA10847,NA11829,NA11831,NA11881,NA11918,NA11919,NA12156,NA12414,NA12489,NA12717,NA12749,NA12761,NA12763,NA12878,NA12891,NA18489,NA18499,NA18501,NA18508,NA18517,NA18522,NA18523,NA18558,NA18561,NA18577,NA18593,NA18912,NA18916,NA18947,NA18964,NA19093,NA19099,NA19102,NA19108,NA19114,NA19138,NA19225,NA19257 dgv522n21 X 111533120 111581010 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521558,nsv524839 M 2026 2 0 ZCCHC16 nsv523375 X 111551663 111673440 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699124 S 2026 1 0 ZCCHC16 nsv521225 X 111565391 111577411 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697856 S 2026 1 0 ZCCHC16 nsv517690 X 111571184 111607618 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652850,nssv655493,nssv657677,nssv684896,nssv675787,nssv653269 M 2026 4 2 ZCCHC16 nsv513621 X 111615033 111615896 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626873 S 1 1 0 "" 1 nsv7042 X 111718973 111752763 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2837,nssv5248 M 9 2 0 "" NA18555,NA19129 esv1060807 X 111839815 111839815 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239580 S 2 1 0 "" HuRef esv24120 X 112036484 112039087 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15891 S 451 0 1 "" NA18907 nsv829388 X 112043707 112052196 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432639 S 31 1 0 "" AK20 nsv438152 X 112051278 112052072 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470215,nssv470216 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18608,NA18633 nsv519856 X 112134877 112258479 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697088 S 2026 1 0 "" nsv515695 X 112177129 112313322 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664443,nssv655019,nssv670087,nssv693654,nssv685785,nssv695444,nssv672651,nssv696405,nssv665961,nssv699532 M 2026 10 0 "" nsv510552 X 112266816 112272816 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624103 S 4 0 1 "" NA18994 dgv523n21 X 112313322 113729158 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv526494,nsv525517 M 2026 0 2 HTR2C nsv527835 X 112332422 112442734 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704332 S 2026 1 0 "" nsv523905 X 112353752 112505390 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699748 S 2026 1 0 "" nsv507989 X 112426424 112432424 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623095 S 4 1 0 "" NA18994 nsv513622 X 112429492 112429948 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626874 S 1 1 0 "" 1 esv2605835 X 112429545 112430146 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5291467 S 1 1 0 "" NA18507 nsv521498 X 112628441 112803423 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698112 S 2026 1 0 "" nsv526427 X 112695700 112828515 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702729 S 2026 1 0 "" esv2570484 X 112763229 112764199 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5335774 S 1 1 0 "" NA18507 esv274531 X 112763606 112763788 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580622 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19238 esv269324 X 112763628 112764006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494260,essv2493154,essv2503041,essv2509703,essv2505251,essv2513362,essv2495665,essv2506935,essv2510827,essv2512053,essv2502274 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18504,NA18507,NA18508,NA18853,NA18907,NA18916,NA19102,NA19116,NA19238,NA19257 nsv518865 X 112788193 112803423 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696322 S 2026 1 0 "" esv33885 X 112793116 112793158 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv96127 S 51 0 1 "" 22007 esv33702 X 112812564 112812788 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101342,essv95358,essv92683,essv99160 M 51 0 4 "" 21805,21872,21944,22275 esv33994 X 112815468 114902000 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98687,essv101105,essv94716,essv94110,essv101397,essv96964,essv97803,essv99611,essv94922,essv97980,essv100407,essv100395,essv99475 M 51 4 9 HTR2C,IL13RA2,LRCH2,LUZP4,MIR1264,MIR1298,MIR1911,MIR1912,MIR448,MIR764,PLS3,RBMXL3,SNORA35 21606,21618,21791,21802,21805,21817,21837,22217,22231,22259,22300,22335 nsv515718 X 113028333 113127067 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697544,nssv666620,nssv689109,nssv689387,nssv675788,nssv685432,nssv664543 M 2026 6 1 "" esv1756619 X 113060967 113061031 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4297096 S 2 0 1 "" HuRef dgv524n21 X 113197257 113760342 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524582,nsv521297 M 2026 2 0 HTR2C nsv521119 X 113483453 113697795 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697799 S 2026 1 0 "" nsv520153 X 113553897 113679886 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661263,nssv690879,nssv687735,nssv663064 M 2026 4 0 "" nsv517809 X 113595979 113706163 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695214 S 2026 1 0 "" esv1143368 X 113600077 113600077 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3758155 S 2 1 0 "" HuRef nsv518094 X 113652656 113691897 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695506 S 2026 1 0 "" nsv527347 X 113678137 114124020 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703774 S 2026 1 0 HTR2C,MIR1264,MIR1298,MIR1911,MIR1912,MIR448,MIR764,SNORA35 nsv7044 X 113792477 113836817 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1857 S 9 0 1 HTR2C,MIR1264 NA18555 nsv507990 X 113854379 113860379 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617983 S 4 1 0 HTR2C,MIR1298 CHM nsv425061 X 113902687 113902807 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443639 M 24 HTR2C esv270001 X 113938287 113938561 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2505192,essv2507074,essv2506963,essv2493539,essv2502128 M 157 5 0 Samples from several populations that are part of the HapMap project. HTR2C NA18853,NA18870,NA19102,NA19137,NA19257 esv1117381 X 113947867 113947948 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3725711 S 2 0 1 HTR2C HuRef esv1501559 X 113948070 113948070 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4181126 S 2 1 0 HTR2C HuRef esv1001275 X 114080763 114086633 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564248 S 3 0 1 "" HuRef nsv513764 X 114108478 114304106 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv627016 S 1 1 0 IL13RA2,LRCH2 1 nsv511667 X 114111874 114313246 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626304 S 1 1 0 IL13RA2,LRCH2 1 nsv516624 X 114122419 114265387 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697388,nssv700825,nssv669634,nssv679705,nssv683445 M 2026 5 0 IL13RA2,LRCH2 nsv7045 X 114200000 114244897 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8767 S 9 0 1 "" NA12156 nsv520351 X 114214754 114459247 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697366 S 2026 1 0 LRCH2,LUZP4,RBMXL3 esv1448157 X 114266254 114266392 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4256775 S 2 0 1 LRCH2 HuRef esv271901 X 114280726 114280811 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513941 S 157 1 0 Samples from several populations that are part of the HapMap project. LRCH2 NA19143 nsv7046 X 114405921 114441312 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1858 S 9 0 1 LUZP4 NA18555 dgv65n50 X 114447813 114451576 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512693,nsv511666 M 1 0 1 LUZP4 1 nsv819545 X 114448338 114452012 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1419569 S 2 1 0 LUZP4 AK1 dgv1254n67 X 114448586 114450456 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829389,nsv829390 M 31 0 4 "" NA18547,NA18592,NA18968,NA18997 nsv821563 X 114448586 114450799 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420204 S 1 0 1 "" NA10851 esv24194 X 114448811 114450799 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14466,esv11713 M 451 3 4 "" NA07037,NA11931,NA11995,NA12004,NA12156,NA18508,NA19240 nsv522704 X 114512026 114537904 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706116 S 2026 1 0 "" nsv508793 X 114514685 114577266 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623600 S 4 1 0 "" NA18994 esv1720208 X 114543915 114543915 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3750654 S 2 1 0 "" HuRef esv1633709 X 114544370 114544432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3783346 S 2 0 1 "" HuRef esv1487239 X 114650276 114650276 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3981808 S 2 1 0 "" HuRef esv1112709 X 114827685 114827834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3816082 S 2 0 1 "" HuRef nsv508794 X 114853390 114999789 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619600,nssv620956 M 4 2 0 "" NA10860,NA15510 nsv820444 X 114865218 114920282 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420205 S 1 0 1 "" NA10851 esv26796 X 114865718 114920282 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18521 S 451 10 6 "" NA07037,NA11931,NA11995,NA12044,NA12414,NA12749,NA12776,NA12828,NA18505,NA18508,NA18858,NA18916,NA19108,NA19114,NA19129,NA19190 esv1001727 X 114865933 114919712 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586638 S 3 0 1 "" HuRef nsv7048 X 114896347 114899064 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5252,nssv10725,nssv11223 M 9 3 0 "" NA15510,NA18956,NA19129 nsv211 X 114897286 114898990 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv211 S 1 1 0 "" NA15510 nsv7050 X 114910517 114925540 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6365,nssv904,nssv6366,nssv1860,nssv10726,nssv5255,nssv11224,nssv3822,nssv903 M 9 7 0 "" NA12156,NA12878,NA15510,NA18555,NA18956,NA19129,NA19240 nsv213 X 114914198 114914906 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv213 S 1 1 0 "" NA15510 nsv523201 X 114972547 115001025 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698920 S 2026 1 0 "" nsv519221 X 114972547 115023781 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696711 S 2026 1 0 "" nsv511086 X 115046388 115084685 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618630 S 4 0 0 "" CHM nsv523486 X 115046862 115127239 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699253 S 2026 1 0 "" nsv511662 X 115050843 115055917 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626298 S 1 1 0 "" 1 esv27123 X 115051762 115066995 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20965,esv14582,esv13034 M 451 12 9 "" NA06985,NA07037,NA11931,NA11995,NA12004,NA12006,NA12239,NA12414,NA12878,NA15510,NA18502,NA18508,NA18511,NA18517,NA18858,NA18909,NA19108,NA19129,NA19225,NA19240,NA19257 nsv442814 X 115051983 115064666 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv821272 X 115051993 115067229 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420206 S 1 0 1 "" NA10851 nsv819033 X 115052245 115070993 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418675 S 2 1 0 "" AK1 nsv829391 X 115053254 115054882 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435642 S 31 0 1 "" NA18942 dgv1255n67 X 115053254 115055968 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH nsv829393,nsv829392 M 31 0 4 "" AK12,NA18570,NA18951,NA18997 nsv829394 X 115053254 115056895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1433401,nssv1437210 M 31 0 2 "" NA18542,NA18972 esv32862 X 115053327 115056724 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101553,essv98700,essv101144,essv93942,essv94031,essv96896,essv95365,essv97378,essv99008,essv96185,essv98572,essv99567,essv100487,essv100291,essv94259 M 51 0 15 "" 21603,21606,21618,21634,21802,21817,21872,21879,21938,22007,22085,22217,22298,22300,22394 nsv829395 X 115054975 115055754 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1435643 S 31 0 1 "" NA18942 nsv829396 X 115056096 115056895 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440787,nssv1430325 M 31 0 2 "" AK14,NA18564 nsv7051 X 115116395 115146118 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8768 S 9 0 1 "" NA12156 dgv2466e1 X 115139163 115278016 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv1425,essv20990 M 271 0 0 AGTR2 NA10863 esv32601 X 115161212 115182988 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv95405,essv97417,essv95998,essv99358 M 51 0 4 "" 21872,21879,22127,22275 esv1547792 X 115161399 115161471 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4010969 S 2 0 1 "" HuRef esv1636372 X 115161810 115161862 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4157480 S 2 0 1 "" HuRef esv33392 X 115182905 115182988 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101147,essv93935,essv97850,essv92768,essv96096,essv96611,essv99598,essv94873,essv98089,essv100216,essv96344 M 51 0 11 "" 21618,21634,21837,21944,22007,22011,22217,22231,22259,22286,22371 esv33299 X 115182905 115210827 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94779 S 51 0 1 "" 21791 nsv9965 X 115219779 115220530 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25108 S 31 1 0 Samples from several populations that are part of the HapMap project. AGTR2 NA07029 nsv528502 X 115245314 115313612 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705107 S 2026 1 0 "" nsv9966 X 115272542 115274470 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23263,nssv25133 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA12872 nsv527278 X 115279796 115342875 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703688 S 2026 1 0 "" nsv523582 X 115314659 115536301 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699371 S 2026 1 0 CXorf61,SLC6A14 nsv527546 X 115322315 115438263 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704007 S 2026 1 0 "" esv26395 X 115386499 115387074 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12449 S 451 1 0 "" NA19147 nsv7052 X 115388622 115419033 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10727 S 9 1 0 "" NA18956 nsv527804 X 115500845 115694853 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704298 S 2026 1 0 CXorf61,SLC6A14 nsv438153 X 115503140 115503807 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470217,nssv470218 M 269 0 2 Samples from several populations that are part of the HapMap project. SLC6A14 NA18540,NA18943 nsv526428 X 115503807 115538986 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702730 S 2026 1 0 CXorf61,SLC6A14 dgv526n21 X 115503807 115637649 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524543,nsv526134 M 2026 2 0 CXorf61,SLC6A14 nsv526363 X 115513193 115794924 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702656 S 2026 1 0 "" nsv518703 X 115515972 115538986 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696154 S 2026 1 0 "" nsv517788 X 115536301 115664254 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680122,nssv690489,nssv704762,nssv667783,nssv664771,nssv653270,nssv655895,nssv655833,nssv702485,nssv690541 M 2026 9 1 "" esv271310 X 115638316 115638657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2509868,essv2493830 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18517 nsv7053 X 115651348 115675939 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8769 S 9 0 1 "" NA12156 dgv2467e1 X 115655192 115985380 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv24104,esv628 M 271 0 0 "" NA07048 esv2422422 X 115660570 115804952 CNV Duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP_array Illumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip essv5161307 S 181 1 0 "" ND01679 nsv510854 X 115673975 115693131 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622646 S 4 0 1 "" NA18994 nsv519637 X 115676881 115726187 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv658005,nssv657311,nssv659648 M 2026 0 3 "" esv1460561 X 115812596 115812596 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4311516 S 2 1 0 "" HuRef nsv9967 X 115813852 115934598 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25794,nssv26363,nssv28226,nssv23553 M 31 1 3 Samples from several populations that are part of the HapMap project. "" NA07048,NA18563,NA18572,NA18860 essv20086 X 115814026 115985380 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA07048 esv26487 X 115823995 115932142 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19306 S 451 1 0 "" NA12749 nsv516826 X 115825108 115926128 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656627,nssv689137,nssv682666,nssv697293,nssv684918,nssv687423,nssv677350,nssv654274,nssv700362 M 2026 5 4 "" nsv7055 X 115856551 115875734 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3823 S 9 1 0 "" NA12878 esv2527252 X 115881349 115882092 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5283255 S 1 1 0 "" NA18507 nsv522618 X 115943107 116008066 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706014 S 2026 0 1 "" nsv520858 X 115967930 115972220 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697653 S 2026 1 0 "" nsv470360 X 115971383 116105235 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547048 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00615 nsv519966 X 116008066 116012069 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697152 S 2026 0 1 "" nsv519896 X 116046610 116074011 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683424,nssv659376 M 2026 2 0 "" nsv518423 X 116110697 116303505 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695858 S 2026 1 0 "" nsv425233 X 116112220 116112220 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443811 M 24 "" nsv528202 X 116136537 116222054 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704763 S 2026 1 0 "" nsv527647 X 116136537 116261220 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704118 S 2026 1 0 "" nsv525567 X 116189668 116222054 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701706 S 2026 1 0 "" esv269385 X 116322547 116322720 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513206,essv2507872,essv2494097,essv2513444,essv2497540 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA18564,NA18871,NA18907,NA19147 nsv424874 X 116338390 116338708 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443452 M 24 "" esv259764 X 116353385 116355182 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2395231,essv2396514,essv2398371,essv2399290 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18517,NA19093,NA19102 esv27944 X 116353523 116355107 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13794 S 451 1 0 "" NA18517 esv1639533 X 116368649 116368649 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3736112 S 2 1 0 "" HuRef nsv526893 X 116370304 116371876 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703251 S 2026 1 0 "" esv2752313 X 116383146 116454146 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6990111,essv6985294,essv6985293,essv6985292 M 771 0 1 "" SPC_138 nsv425389 X 116406733 116406810 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443967 M 24 "" esv1716913 X 116442336 116442336 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3778513 S 2 1 0 "" HuRef esv269081 X 116511641 116511979 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2526133,essv2536364,essv2523309,essv2530612,essv2569630,essv2561312,essv2523881,essv2553050,essv2538399,essv2540394,essv2524372,essv2534828,essv2549211,essv2519783,essv2559961,essv2521897,essv2566134,essv2531080,essv2529045,essv2567429,essv2541716,essv2570175,essv2563778,essv2572566,essv2566754,essv2569159,essv2528016,essv2562382,essv2572934,essv2533674,essv2555668,essv2529897,essv2527403,essv2557654,essv2556089,essv2531398,essv2573451,essv2525722,essv2526931,essv2530275,essv2547708 M 157 41 0 Samples from several populations that are part of the HapMap project. "" NA07347,NA11918,NA11920,NA12004,NA12873,NA18520,NA18523,NA18537,NA18542,NA18547,NA18552,NA18555,NA18561,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18579,NA18582,NA18592,NA18593,NA18603,NA18609,NA18853,NA18861,NA18907,NA18909,NA18942,NA18944,NA18945,NA18949,NA18952,NA18953,NA18956,NA18961,NA18964,NA18980,NA19005,NA19141 nsv515164 X 116644448 116868000 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628416 S 1414 0 1 "" esv273471 X 116722854 116723199 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584254,essv2583672 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv270731 X 116722857 116723202 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565899,essv2546437,essv2521307,essv2526173,essv2542513,essv2568350,essv2545700,essv2570545,essv2535080,essv2520361,essv2547159,essv2529127,essv2520200,essv2564182,essv2554944,essv2537580,essv2528499,essv2532251,essv2550041,essv2537160,essv2527027,essv2561678,essv2562828,essv2523897,essv2541224,essv2532883,essv2567933,essv2535515,essv2566946,essv2541949,essv2569043,essv2533941,essv2567063,essv2555944,essv2575783,essv2560562,essv2560912,essv2568744,essv2560243,essv2571247,essv2546059,essv2574199,essv2536045 M 157 43 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11829,NA11881,NA11894,NA11918,NA11919,NA11995,NA12003,NA12044,NA12249,NA12716,NA12717,NA12749,NA12815,NA12828,NA12872,NA12878,NA12891,NA18505,NA18511,NA18517,NA18522,NA18523,NA18532,NA18537,NA18545,NA18576,NA18577,NA18608,NA18853,NA18856,NA18861,NA18916,NA18947,NA18956,NA19099,NA19116,NA19137,NA19147,NA19190,NA19238,NA19239,NA19240 esv1495853 X 116722892 116722892 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4324362 S 2 1 0 "" HuRef nsv508795 X 116800875 116859983 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623601 S 4 1 0 "" NA18994 esv1936154 X 116909357 116909818 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4632717 S 1 0 1 "" NA18507 esv271191 X 117015070 117015201 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2493621,essv2498479,essv2509230,essv2506894,essv2506615 M 157 5 0 Samples from several populations that are part of the HapMap project. KLHL13 NA18517,NA18858,NA18909,NA19102,NA19108 nsv510855 X 117015162 117105008 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618882 S 4 0 1 KLHL13 NA10860 nsv526997 X 117118960 117171220 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703372 S 2026 1 0 KLHL13 esv270236 X 117120054 117120304 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517355 S 157 1 0 Samples from several populations that are part of the HapMap project. KLHL13 NA18970 esv2446098 X 117337088 117339369 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5175964 S 1 0 1 "" NA18507 esv998257 X 117337986 117338811 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586828 S 3 1 0 "" HuRef nsv829398 X 117337986 117338811 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1434155,nssv1423241,nssv1437919,nssv1421437,nssv1428811,nssv1428011,nssv1438576,nssv1434855,nssv1437211,nssv1433402,nssv1426362,nssv1430326,nssv1431787,nssv1423107,nssv1439443,nssv1437430 M 31 0 16 "" AK10,AK14,AK18,AK4,AK8,NA18526,NA18542,NA18552,NA18570,NA18592,NA18949,NA18951,NA18968,NA18969,NA18972,NA18973 esv2087141 X 117337986 117339182 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4908512 S 1 0 1 "" NA18507 nsv512694 X 117338059 117339338 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625316 S 1 0 1 "" 1 esv2883 X 117338138 117339045 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25324 S 1 0 1 Single Asian sample YH "" YH nsv425528 X 117338173 117338998 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444106 M 24 "" esv23389 X 117338231 117338831 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16557 S 451 0 6 "" NA12239,NA18502,NA18508,NA18523,NA19129,NA19225 dgv527n21 X 117406136 117864735 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524583,nsv517257 M 2026 7 0 DOCK11,IL13RA1,WDR44,ZCCHC12 nsv522227 X 117438652 117552111 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695004 S 2026 1 0 DOCK11,WDR44 nsv425540 X 117482547 117492053 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444118 M 24 "" esv1919825 X 117512744 117513167 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4922719 S 1 0 1 "" NA18507 nsv424884 X 117512888 117512958 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443462 M 24 "" esv1006703 X 117512933 117513003 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3578014 S 3 0 1 "" HuRef esv1507859 X 117512958 117513029 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4082963 S 2 0 1 "" HuRef nsv510553 X 117526469 117532469 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622205,nssv618484 M 4 0 2 DOCK11 CHM,NA10860 esv1557323 X 117665958 117665958 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3849183 S 2 1 0 DOCK11 HuRef esv1709061 X 117802146 117802146 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3961551 S 2 1 0 IL13RA1 HuRef esv269055 X 118087387 118087472 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513871 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA19143 nsv518389 X 118319231 118478450 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695819 S 2026 0 1 SLC25A43 nsv829399 X 118378710 118391923 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1421438 S 31 1 0 "" NA18968 esv1033076 X 118379815 118379931 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4203416 S 2 0 1 "" HuRef nsv525652 X 118504234 118583348 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701807 S 2026 1 0 CXorf56 nsv519969 X 118512781 118521354 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697153 S 2026 0 1 "" nsv425163 X 118529902 118529902 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443741 M 24 "" nsv519187 X 118540968 118542073 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696671 S 2026 1 0 "" nsv7056 X 118757361 118799020 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6367 S 9 0 1 ANKRD58 NA12156 nsv512695 X 118757734 118760860 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625317 S 1 0 1 "" 1 esv996358 X 118757866 118759392 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587177 S 3 1 0 "" HuRef nsv821414 X 118758088 118759392 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420207 S 1 0 1 "" NA10851 nsv829400 X 118758088 118759392 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1427244,nssv1437212,nssv1435644,nssv1423936,nssv1423252,nssv1437441 M 31 0 6 "" AK6,NA18542,NA18592,NA18942,NA18969,NA18999 nsv515165 X 118772544 118774576 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628417 S 1414 1 0 "" esv1359680 X 118789495 118789908 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4351111 S 2 0 1 "" HuRef dgv2468e1 X 118841467 118965561 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8646,essv9137 M 271 0 0 AKAP14,NDUFA1,NKAP,RNF113A,UPF3B NA18860,NA19239 dgv2469e1 X 118841467 119213012 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv127,essv11811 M 271 0 0 AKAP14,NDUFA1,NKAP,RHOXF1,RHOXF2,RHOXF2B,RNF113A,UPF3B NA18521 nsv7057 X 118880284 118912916 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10728 S 9 1 0 NDUFA1,RNF113A NA18956 esv996162 X 118916548 118920529 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564436 S 3 1 0 AKAP14 HuRef nsv9969 X 118917898 118943205 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28228 S 31 1 0 Samples from several populations that are part of the HapMap project. AKAP14,NKAP NA18860 dgv203e180 X 118918676 118942482 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv995492,esv1001531,esv989689,esv990491 M 3 1 0 AKAP14 HuRef esv26416 X 118918843 118949941 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14412,esv19481 M 451 6 0 AKAP14,NKAP NA11995,NA18523,NA18858,NA19147,NA19225,NA19240 nsv442815 X 118919168 118941320 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 AKAP14 nsv515676 X 118919172 118938029 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675047,nssv687624,nssv661734,nssv667132,nssv683608,nssv655394,nssv669399,nssv691138,nssv689322,nssv684919,nssv664344,nssv677117,nssv680368,nssv662480,nssv686658,nssv667275,nssv693977,nssv667104,nssv667372,nssv687903,nssv690927 M 2026 21 0 AKAP14 nsv433462 X 118919172 118941319 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463343 S 9 1 0 Samples from several populations that are part of the HapMap project. AKAP14 NA19240 nsv515166 X 118920616 118940800 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628418 S 1414 0 0 AKAP14 esv29965 X 118921319 118937062 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84204 S 2 1 0 AKAP14 HuRef nsv7058 X 118932895 118936543 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv905 S 9 1 0 AKAP14 NA19240 esv996782 X 118934132 118934899 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563831 S 3 1 0 AKAP14 HuRef nsv7059 X 118938547 118956497 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv906 S 9 1 0 AKAP14,NKAP NA19240 nsv425243 X 118945078 118952421 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443821 M 24 NKAP nsv7457 X 119024827 119237455 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10729,nssv3824,nssv10732,nssv10731,nssv10730,nssv5257,nssv5256 M 9 0 0 RHOXF1,RHOXF2,RHOXF2B NA12878,NA18956,NA19129 nsv526653 X 119047659 119158662 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702981 S 2026 1 0 RHOXF1,RHOXF2,RHOXF2B nsv9970 X 119094787 119095718 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27469 S 31 1 0 Samples from several populations that are part of the HapMap project. RHOXF2,RHOXF2B NA12155 esv1505897 X 119130376 119130376 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3800719 S 2 1 0 RHOXF1 HuRef nsv9971 X 119176510 119177441 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27477 S 31 1 0 Samples from several populations that are part of the HapMap project. RHOXF2,RHOXF2B NA12155 dgv2470e1 X 119285453 119466977 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12636,esv496 M 271 0 0 ATP1B4,FAM70A,LAMP2 NA18500 nsv528786 X 119398720 119489642 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705454 S 2026 1 0 ATP1B4,LAMP2 esv270966 X 119411851 119412185 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2571743,essv2521134,essv2523004,essv2543922,essv2523267,essv2577220,essv2570460,essv2550764,essv2554157,essv2544443,essv2547576,essv2529388,essv2558499,essv2577810,essv2553696,essv2565221,essv2520176,essv2564164,essv2537532,essv2546801,essv2578682,essv2552865,essv2524512,essv2565116,essv2561225,essv2519846,essv2566222,essv2567372,essv2535720,essv2572326,essv2533696,essv2571536,essv2574371,essv2537892,essv2549052,essv2533089,essv2554590,essv2547975,essv2563370,essv2558222 M 157 40 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11840,NA11894,NA11931,NA11992,NA12004,NA12043,NA12044,NA12155,NA12287,NA12414,NA12717,NA12749,NA12750,NA12761,NA12763,NA12812,NA12815,NA12828,NA12878,NA12892,NA18510,NA18542,NA18555,NA18558,NA18562,NA18566,NA18572,NA18582,NA18608,NA18609,NA18944,NA19238,NA19240 esv274429 X 119411853 119412185 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581685,essv2582725 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv1332333 X 119411884 119411884 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3696825 S 2 1 0 "" HuRef esv4988 X 119527272 119527717 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27429 S 1 0 1 Single Asian sample YH "" YH esv1237955 X 119527353 119527666 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3801544 S 2 0 1 "" HuRef esv273852 X 119776786 119777158 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580070,essv2580372 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891 esv270860 X 119776845 119777112 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565740,essv2521138,essv2526021,essv2542466,essv2536518,essv2523003,essv2556709,essv2523248,essv2531912,essv2544467,essv2529226,essv2564566,essv2577872,essv2564121,essv2537587,essv2528234,essv2542092,essv2562319,essv2525744,essv2548652,essv2554424,essv2563246 M 157 22 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA07346,NA10847,NA11829,NA11894,NA11918,NA11919,NA11920,NA11931,NA11994,NA12004,NA12006,NA12414,NA12749,NA12751,NA12761,NA12828,NA12878,NA12891,NA18856,NA18909,NA18980 nsv521465 X 119817366 119842367 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698076 S 2026 1 0 "" esv268592 X 119827035 119827120 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514777 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12234 nsv7060 X 119865689 119896415 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10733 S 9 1 0 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A8,CT47A9,CT47B1,LOC100507170 NA18956 nsv7061 X 119886558 119957576 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1861,nssv907,nssv6368,nssv9782,nssv10734,nssv5258,nssv9252,nssv11225 M 9 0 8 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,CT47B1,LOC100507170 NA12156,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv9972 X 119889152 119957132 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27485,nssv23581,nssv27589,nssv26640,nssv26627,nssv26003,nssv26351,nssv27597 M 31 2 4 Samples from several populations that are part of the HapMap project. CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,CT47B1,LOC100507170 NA12155,NA18504,NA18572,NA18853,NA19007,NA19173 nsv820952 X 119889404 119950088 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420208 S 1 0 1 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,CT47B1,LOC100507170 NA10851 esv27639 X 119889568 119949536 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12452 S 451 10 3 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,CT47B1,LOC100507170 NA06985,NA07045,NA11894,NA12006,NA12044,NA12414,NA12828,NA18502,NA18508,NA18858,NA18907,NA19099,NA19190 nsv515167 X 119890528 119951632 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627217 S 1414 0 0 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,CT47B1,LOC100507170 nsv214 X 119892114 119921130 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv214 S 1 0 1 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,CT47B1,LOC100507170 NA15510 nsv510856 X 119910614 119944658 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618883,nssv622647,nssv617451,nssv620041 M 4 0 4 CT47A1,CT47A10,CT47A11,CT47A2,CT47A3,CT47A4,CT47A5,CT47A6,CT47A7,CT47A8,CT47A9,LOC100507170 CHM,NA10860,NA15510,NA18994 nsv524166 X 120055183 120073215 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700045 S 2026 1 0 "" nsv425247 X 120079710 120086565 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443825 M 24 "" esv2410509 X 120160507 120160986 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4532021 S 1 0 1 "" NA18507 esv1760037 X 120160947 120161061 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3588942 S 2 0 1 "" HuRef nsv517214 X 120189131 120204920 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660607,nssv693655,nssv671250,nssv668967,nssv685679,nssv659625,nssv669028,nssv675657,nssv654028 M 2026 9 0 "" nsv438154 X 120232888 120238451 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470220 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA18637 esv2082500 X 120309049 120309467 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4840933 S 1 0 1 "" NA18507 dgv528n21 X 120357668 120480140 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523353,nsv520087 M 2026 2 0 "" nsv522118 X 120369606 120528543 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694133 S 2026 0 1 "" nsv520918 X 120527863 120696392 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694407 S 2026 0 1 "" dgv529n21 X 120545082 120781799 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525038,nsv520535 M 2026 4 0 "" nsv526303 X 120554188 120916272 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702585 S 2026 1 0 "" nsv519144 X 120781799 120832716 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696622 S 2026 0 1 "" esv21554 X 120803907 120805398 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15683 S 451 0 4 "" NA19099,NA19147,NA19190,NA19240 nsv7062 X 120838684 120870857 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6369 S 9 1 0 "" NA12156 nsv526894 X 120877844 120916272 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703252 S 2026 1 0 "" nsv525381 X 120916272 120978220 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701503 S 2026 1 0 "" nsv7063 X 120948119 120966006 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8771 S 9 0 1 "" NA12156 nsv510857 X 121021926 121063916 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618884 S 4 0 1 "" NA10860 nsv527746 X 121050316 121141330 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704232 S 2026 1 0 "" nsv522211 X 121065170 121152564 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694987 S 2026 0 1 "" esv1147350 X 121092273 121092273 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4243700 S 2 1 0 "" HuRef nsv510554 X 121117941 121123941 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618485 S 4 0 1 "" CHM esv22754 X 121132555 121143692 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16643 S 451 0 1 "" NA11894 nsv7064 X 121226883 121252907 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8772 S 9 0 1 "" NA12156 nsv518818 X 121355058 121366511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696271 S 2026 1 0 "" esv271065 X 121396970 121397292 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2547191,essv2564368,essv2561996,essv2569324,essv2578720,essv2558879,essv2527397,essv2523855,essv2549421,essv2566049,essv2572189,essv2551042,essv2569027,essv2556219,essv2528077,essv2539436,essv2578115,essv2534181,essv2529601,essv2575619,essv2575157,essv2524205,essv2572736,essv2551507 M 157 24 0 Samples from several populations that are part of the HapMap project. "" NA12717,NA12751,NA12874,NA18508,NA18510,NA18516,NA18522,NA18537,NA18564,NA18572,NA18609,NA18858,NA18861,NA18871,NA18907,NA18912,NA18940,NA18959,NA19093,NA19099,NA19102,NA19129,NA19143,NA19257 esv1089419 X 121427422 121427489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4066442 S 2 0 1 "" HuRef esv29456 X 121774415 121776987 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13789 S 451 0 1 "" NA19225 nsv528061 X 121820594 121823398 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704596 S 2026 1 0 "" nsv7066 X 121859150 121903551 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1865 S 9 0 1 "" NA18555 nsv522298 X 122036209 122078677 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695079 S 2026 1 0 "" nsv508796 X 122074801 122105393 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619601,nssv618150,nssv620957,nssv623602 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv997655 X 122091244 122092677 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564943 S 3 1 0 "" HuRef esv25182 X 122143308 122143918 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16975 S 451 0 1 "" NA19129 nsv511653 X 122196998 122208301 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626289 S 1 0 1 GRIA3 1 nsv512696 X 122200067 122201331 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625318 S 1 0 1 GRIA3 1 esv22122 X 122200312 122201072 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12439 S 451 0 1 GRIA3 NA12776 nsv508797 X 122314506 122362316 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623603 S 4 1 0 GRIA3 NA18994 nsv7067 X 122337490 122370930 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8773 S 9 1 0 GRIA3 NA12156 nsv508798 X 122480662 122508569 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623604 S 4 1 0 "" NA18994 nsv513623 X 122492502 122492584 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626875 S 1 1 0 "" 1 esv272259 X 122500020 122500365 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582083,essv2582525,essv2583898,essv2584824,essv2583570 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19239,NA19240 esv271960 X 122500028 122500363 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565856,essv2540959,essv2571606,essv2546256,essv2521410,essv2526222,essv2522751,essv2577634,essv2535244,essv2554059,essv2552271,essv2520493,essv2547421,essv2558238,essv2564573,essv2553871,essv2562102,essv2537449,essv2528498,essv2546870,essv2542613,essv2565027,essv2519643,essv2559904,essv2521923,essv2566098,essv2532477,essv2567326,essv2563569,essv2553504,essv2527821,essv2578164,essv2530135,essv2557681,essv2576961,essv2537900,essv2533313,essv2554670,essv2563217 M 157 39 0 Samples from several populations that are part of the HapMap project. "" NA07000,NA07051,NA07346,NA10847,NA11829,NA11831,NA11840,NA11881,NA11894,NA11918,NA11931,NA12043,NA12249,NA12287,NA12489,NA12716,NA12717,NA12750,NA12751,NA12763,NA12874,NA12878,NA12891,NA12892,NA18550,NA18558,NA18566,NA18570,NA18571,NA18572,NA18576,NA18582,NA18603,NA18605,NA18907,NA18940,NA18949,NA18953,NA18970 esv1784424 X 122500059 122500059 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3856531 S 2 1 0 "" HuRef nsv7068 X 122512976 122558649 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6370 S 9 0 1 "" NA12156 nsv7069 X 122540149 122575315 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv908 S 9 1 0 THOC2 NA19240 esv24061 X 122559382 122561926 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv9862 S 451 0 1 "" NA19129 nsv517283 X 122763633 122795009 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv665946,nssv654200,nssv692792 M 2026 3 0 "" esv1986499 X 122778744 122780671 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4733756 S 1 0 1 "" NA18507 esv995876 X 122778761 122780448 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586641 S 3 0 1 "" HuRef esv24332 X 122778911 122780280 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17545 S 451 0 5 "" NA18508,NA18523,NA18909,NA19099,NA19190 esv1332599 X 122778924 122780533 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3874317 S 2 0 1 "" HuRef dgv2471e1 X 122792497 122990246 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5469,esv285 M 271 0 0 STAG2,XIAP NA18632 nsv512697 X 122800416 122801484 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625319 S 1 0 1 "" 1 esv7604 X 122800486 122801558 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30045 S 1 0 1 "" SJK nsv507991 X 122829886 122835886 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621973,nssv617984 M 4 2 0 XIAP CHM,NA10860 nsv438155 X 122933472 122934178 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470222,nssv470221 M 269 0 2 Samples from several populations that are part of the HapMap project. STAG2 NA18540,NA18995 nsv425500 X 123139244 123139244 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444078 M 24 "" nsv7070 X 123220033 123264737 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8774 S 9 0 1 "" NA12156 esv1383760 X 123296049 123296235 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4300305 S 2 0 1 "" HuRef esv22719 X 123423648 123424193 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11069 S 451 0 1 ODZ1 NA18517 nsv523165 X 123428564 123474023 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698877 S 2026 1 0 ODZ1 esv273929 X 123439921 123440006 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581556 S 7 1 0 Samples from several populations that are part of the HapMap project. ODZ1 NA12878 nsv7071 X 123445451 123476642 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3825 S 9 1 0 ODZ1 NA12878 nsv7072 X 123599384 123600714 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8775 S 9 1 0 ODZ1 NA12156 esv270644 X 123748903 123754948 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2494361,essv2504125,essv2494674,essv2513328,essv2495554,essv2493496,essv2497716 M 157 7 0 Samples from several populations that are part of the HapMap project. ODZ1 NA18502,NA18505,NA18519,NA18907,NA18916,NA19137,NA19147 nsv524603 X 123847397 123944693 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700564 S 2026 1 0 ODZ1 dgv271n6 X 123943389 123943832 CNV Loss Mills et al 2006 16902084 Sequence_alignment nsv425308,nsv425386 M 24 "" nsv7073 X 124106837 124115344 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8776 S 9 0 1 "" NA12156 nsv7074 X 124161395 124206552 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8777 S 9 0 1 "" NA12156 esv2752314 X 124281258 124769967 CNV Loss Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6989942,essv6984320 M 771 0 1 LOC100129520 BEC_688 nsv520238 X 124324670 124432412 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697301 S 2026 1 0 "" nsv820111 X 124357976 124369649 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418614 S 2 1 0 "" AK1 nsv507992 X 124408112 124414112 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621974,nssv617985,nssv620485,nssv623096 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv510555 X 124497159 124503159 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622206,nssv624104 M 4 0 2 "" NA10860,NA18994 nsv470361 X 124504136 125040563 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547049,nssv547051,nssv547050 M 443 3 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00356,HGDP01363,HGDP01366 nsv510556 X 124567031 124573031 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624105,nssv622207 M 4 0 2 "" NA10860,NA18994 nsv517568 X 124570035 124909172 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv682832,nssv652388,nssv670844,nssv686048 M 2026 4 0 "" nsv507993 X 124715432 124721432 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617986,nssv620486 M 4 2 0 "" CHM,NA15510 esv25068 X 124819551 124822258 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17671 S 451 0 1 "" NA11894 esv22424 X 124928951 124996555 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15750 S 451 0 1 "" NA18511 nsv470362 X 124932598 125114754 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547053,nssv547055,nssv547052,nssv547056,nssv547057 M 443 0 5 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00924,HGDP00926,HGDP00932,HGDP00939,HGDP00944 nsv516225 X 124932598 125114754 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666936,nssv672998,nssv667415,nssv676973,nssv661921,nssv675247,nssv659214,nssv689054,nssv679485,nssv662037 M 2026 0 10 "" nsv7075 X 124946184 124976356 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1866 S 9 1 0 "" NA18555 esv1563462 X 124997514 124997514 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4272083 S 2 1 0 "" HuRef esv26973 X 125004683 125054528 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12186 S 451 0 1 "" NA18511 nsv524503 X 125006394 125278502 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700447 S 2026 1 0 DCAF12L2 nsv510557 X 125012868 125018868 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624106,nssv622209 M 4 0 2 "" NA10860,NA18994 esv28789 X 125061079 125118324 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11445 S 451 0 1 "" NA18511 nsv519795 X 125085831 125213018 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697056 S 2026 1 0 DCAF12L2 nsv523656 X 125139786 125213018 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699457 S 2026 1 0 "" nsv520617 X 125168119 125186627 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv673272,nssv691200 M 2026 2 0 "" esv1633605 X 125329778 125329834 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3928654 S 2 0 1 "" HuRef esv270166 X 125388174 125388366 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511843,essv2498556,essv2507128,essv2510470 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18499,NA18858,NA18870,NA19172 esv27999 X 125433456 125435009 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17138 S 451 0 2 "" NA12239,NA19190 dgv2472e1 X 125442561 125501490 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9174,esv156 M 271 0 0 "" NA19128 nsv7078 X 125498886 125531434 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10735 S 9 1 0 DCAF12L1 NA18956 nsv7079 X 125610363 125642522 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6371 S 9 1 0 "" NA12156 nsv507994 X 125617270 125623270 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617987 S 4 1 0 "" CHM esv22718 X 125677993 125680588 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12307 S 451 0 2 "" NA19108,NA19240 nsv425363 X 125678032 125680572 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443941 M 24 "" nsv527777 X 125714385 125743166 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704268 S 2026 0 1 "" nsv519509 X 125721242 126201302 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683848,nssv659121,nssv682124,nssv661583,nssv690334,nssv703689,nssv704399,nssv692288,nssv682123,nssv678627,nssv656454,nssv683849 M 2026 8 4 CXorf64 esv268287 X 125788271 125788514 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2552393,essv2532292,essv2537091,essv2539222,essv2562462,essv2575476,essv2574596,essv2572644,essv2568563,essv2571344,essv2574282,essv2551464 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18502,NA18505,NA18517,NA18519,NA18909,NA19099,NA19138,NA19143,NA19147,NA19238,NA19240,NA19257 esv273958 X 125788272 125788552 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582087,essv2583143,essv2584029,essv2583507 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 nsv515169 X 125881760 126078032 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628419 S 1414 0 1 "" nsv518671 X 125940450 126390767 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696121 S 2026 1 0 "" nsv7080 X 125954593 125985457 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10736 S 9 1 0 "" NA18956 esv2558266 X 126117839 126118847 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5165342 S 1 1 0 "" NA18507 esv269287 X 126118328 126118675 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510218,essv2511054,essv2505111,essv2502280,essv2500236,essv2505518,essv2513159,essv2495389,essv2495888,essv2508583,essv2493415,essv2508862,essv2502830,essv2496826,essv2510587,essv2494387,essv2509823,essv2496327,essv2496143,essv2493632,essv2506299,essv2500419,essv2503278,essv2497352,essv2494553,essv2497156,essv2504511,essv2500674,essv2500147,essv2507603,essv2512684,essv2508135,essv2508673,essv2510075,essv2496139,essv2501644,essv2505722,essv2513536,essv2509179,essv2507293,essv2495591,essv2511654,essv2503170,essv2512340,essv2493058,essv2505390,essv2509374,essv2500528,essv2497417,essv2501430,essv2504635,essv2506946,essv2506568,essv2499171,essv2509534,essv2498783,essv2497684,essv2496973,essv2512178,essv2501805,essv2498209,essv2502087,essv2503594,essv2495825,essv2503992,essv2511482,essv2499522 M 157 67 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07346,NA07357,NA10851,NA11831,NA11995,NA12004,NA12006,NA12154,NA12249,NA12287,NA12489,NA12717,NA12763,NA12878,NA12892,NA18498,NA18501,NA18502,NA18508,NA18510,NA18511,NA18517,NA18523,NA18537,NA18542,NA18545,NA18550,NA18552,NA18563,NA18571,NA18573,NA18576,NA18577,NA18579,NA18592,NA18593,NA18603,NA18608,NA18861,NA18907,NA18909,NA18912,NA18916,NA18940,NA18943,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA19093,NA19099,NA19102,NA19108,NA19114,NA19129,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv272931 X 126118330 126118657 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580099,essv2579887,essv2580815,essv2579193,essv2579441 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1203614 X 126118374 126118374 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227257 S 2 1 0 "" HuRef esv1546310 X 126138781 126138781 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4323763 S 2 1 0 "" HuRef nsv470363 X 126174247 126322629 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547059,nssv547058 M 443 2 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00575,HGDP00583 esv274510 X 126411078 126411416 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581046 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19240 esv267594 X 126411085 126411413 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2536578,essv2577451,essv2535005,essv2553998,essv2537381,essv2552872,essv2567968,essv2528105,essv2525028 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA07357,NA11920,NA12043,NA12249,NA12287,NA12878,NA18542,NA18577,NA18907 nsv7081 X 126418897 126449106 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3826 S 9 0 1 "" NA12878 nsv511664 X 126421590 126432364 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626301 S 1 0 1 "" 1 esv999145 X 126422984 126431410 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564300 S 3 0 1 "" HuRef nsv435890 X 126425157 126431507 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465828 S 2 0 1 "" NA15510 nsv512698 X 126425334 126430096 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625320 S 1 0 1 "" 1 nsv499364 X 126425441 126430081 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586140 S 9 0 1 "" esv25400 X 126425597 126430121 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20974,esv14394 M 451 12 8 "" NA07037,NA12004,NA12044,NA12156,NA12239,NA12414,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18523,NA18858,NA18907,NA19099,NA19114,NA19129,NA19225,NA19240 nsv821119 X 126425597 126430121 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420209 S 1 0 1 "" NA10851 dgv204e180 X 126426918 126430062 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array esv1005506,esv1007812 M 3 0 1 "" HuRef nsv829401 X 126426933 126430062 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423904,nssv1437452 M 31 0 2 "" NA18547,NA18592 nsv515170 X 126427192 126430104 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628420 S 1414 0 1 "" dgv530n21 X 126443595 126526385 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv524356,nsv527964 M 2026 0 2 "" esv1310066 X 126492805 126492805 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268311 S 2 1 0 "" HuRef nsv7082 X 126510858 126543268 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10737 S 9 1 0 "" NA18956 nsv525246 X 126565408 126586900 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701337 S 2026 0 1 "" nsv507995 X 126566554 126572554 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620487 S 4 1 0 "" NA15510 nsv515791 X 126601856 126714185 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv680927,nssv664800,nssv676952 M 2026 0 3 "" nsv510558 X 126675881 126681881 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621375 S 4 0 1 "" NA15510 nsv518527 X 126698668 126846700 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695970 S 2026 1 0 "" nsv470364 X 126797186 126911657 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547060 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00613 dgv2473e1 X 126970749 127121368 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7807,esv430 M 271 0 0 ACTRT1 NA18558 nsv7083 X 127038620 127070922 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6372 S 9 1 0 "" NA12156 nsv527511 X 127050737 127323211 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703965 S 2026 1 0 "" esv33179 X 127101000 127118922 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99876 S 51 0 1 "" 22086 nsv518257 X 127192929 127323211 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695687 S 2026 1 0 "" nsv7084 X 127212344 127256628 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1867 S 9 0 1 "" NA18555 nsv517586 X 127231411 127327171 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv663271,nssv705300,nssv652444,nssv663824 M 2026 3 1 "" nsv518348 X 127231411 127494083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695776 S 2026 0 1 "" nsv521085 X 127356579 127494083 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697779 S 2026 0 1 "" esv1380664 X 127412452 127412452 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4289072 S 2 1 0 "" HuRef nsv508799 X 127414561 127437446 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623606,nssv620958,nssv619602 M 4 3 0 "" NA10860,NA15510,NA18994 nsv425524 X 127572772 127572772 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444102 M 24 "" esv271981 X 127611981 127612066 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514358 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA12874 esv1287379 X 127629726 127629726 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4182497 S 2 1 0 "" HuRef esv1727262 X 127629770 127629770 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4224717 S 2 1 0 "" HuRef nsv517752 X 127642219 127761351 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656082,nssv692727,nssv689191,nssv668089,nssv666536,nssv653104,nssv686825,nssv698389,nssv654979,nssv673233,nssv690518,nssv673462,nssv659152,nssv691345 M 2026 13 1 "" esv27739 X 127643246 127644545 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20873 S 451 0 1 "" NA15510 esv991278 X 127771125 127771222 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3583239 S 3 0 1 "" HuRef esv1482801 X 127771126 127771224 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4124720 S 2 0 1 "" HuRef nsv424960 X 127811799 127820294 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443538 M 24 "" nsv525859 X 127890048 128018061 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702055 S 2026 1 0 "" nsv507996 X 128093232 128099232 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621975 S 4 1 0 "" NA10860 nsv525860 X 128107193 128461071 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702056 S 2026 1 0 SMARCA1 nsv425549 X 128115718 128115718 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444127 M 24 "" esv33431 X 128149036 128154887 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101477 S 51 0 1 "" 21603 nsv7085 X 128238139 128271210 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8779 S 9 1 0 "" NA12156 nsv510858 X 128320744 128375150 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622649 S 4 0 1 "" NA18994 esv2565171 X 128327294 128330513 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5259035 S 1 0 1 "" NA18507 esv2073365 X 128327929 128330303 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4646098 S 1 0 1 "" NA18507 esv29634 X 128328133 128330203 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14870 S 451 0 14 "" NA07045,NA11931,NA12156,NA12239,NA18502,NA18517,NA18858,NA18909,NA19099,NA19108,NA19129,NA19147,NA19190,NA19225 esv1367820 X 128345856 128345912 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756933 S 2 0 1 "" HuRef esv1532955 X 128393051 128393051 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4176492 S 2 1 0 "" HuRef esv1715961 X 128393062 128393062 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4350419 S 2 1 0 "" HuRef nsv523064 X 128412541 128486023 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698750 S 2026 1 0 SMARCA1 dgv2474e1 X 128525256 128569149 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv11087,essv17467,essv10474,essv1241,essv24311,essv3154,essv4267,essv13731,essv20258,essv4868,essv21714,essv8782,essv3215,essv11788,essv4736,essv16949,essv20890,essv19997,essv19785,essv13885,essv13001,essv23877,essv17196,essv18328,essv19535,essv20371,essv16265,essv12522,essv16867,essv19010,essv8622,essv13537,essv16024,essv1424,essv356 M 271 0 0 OCRL NA07048,NA10830,NA10835,NA10856,NA11994,NA12005,NA12043,NA12144,NA12248,NA12801,NA12814,NA12864,NA18501,NA18504,NA18515,NA18561,NA18603,NA18620,NA18854,NA18859,NA18944,NA18971,NA18974,NA18995,NA19012,NA19092,NA19119,NA19144,NA19160,NA19161,NA19171,NA19205,NA19207,NA19211,NA19239 dgv2475e1 X 128525256 128791766 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13433,esv83,essv9409 M 271 0 0 APLN,OCRL,SASH3,XPNPEP2,ZDHHC9 NA19192,NA19208 nsv7086 X 128528965 128563056 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2839 S 9 1 0 OCRL NA18555 nsv508800 X 128548176 128624136 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619603 S 4 1 0 APLN,OCRL NA10860 nsv528290 X 128597340 129391507 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704864 S 2026 1 0 AIFM1,APLN,BCORL1,ELF4,GPR119,RAB33A,RBMX2,SASH3,SLC25A14,UTP14A,XPNPEP2,ZDHHC9,ZNF280C nsv526197 X 128634093 128787911 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702459 S 2026 1 0 SASH3,XPNPEP2,ZDHHC9 nsv424981 X 128725781 128725841 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443559 M 24 XPNPEP2 nsv818036 X 128735477 128743278 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417767 S 112 0 1 SASH3 NA19003 nsv7087 X 128776694 128822101 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6373 S 9 0 1 ZDHHC9 NA12156 nsv7089 X 128843527 128867202 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6374 S 9 1 0 "" NA12156 nsv7090 X 129010542 129055415 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8780 S 9 0 1 BCORL1,ELF4 NA12156 esv1493190 X 129051958 129053013 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3860242 S 2 0 1 ELF4 HuRef esv25673 X 129071556 129073050 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18614 S 451 0 2 ELF4 NA11993,NA18511 nsv510559 X 129302630 129308630 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624107 S 4 0 1 SLC25A14 NA18994 esv270660 X 129352928 129359002 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2519242,essv2516392,essv2514245 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA11894,NA12814,NA12874 esv1505156 X 129352962 129352962 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3757155 S 2 1 0 "" HuRef esv2017730 X 129367292 129368013 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4558555 S 1 0 1 RBMX2 NA18507 esv2440853 X 129367333 129368814 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5370823 S 1 0 1 RBMX2 NA18507 esv2185683 X 129491999 129492448 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4753646 S 1 0 1 "" NA18507 esv990619 X 129492167 129492246 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3579781 S 3 0 1 "" HuRef esv1011821 X 129492204 129492284 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4160364 S 2 0 1 "" HuRef esv24356 X 129495310 129496542 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20124 S 451 0 3 "" NA18523,NA19225,NA19240 nsv527144 X 129705806 130001154 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703533 S 2026 1 0 ENOX2 esv28068 X 129711426 129715660 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18135 S 451 1 0 ENOX2 NA12044 nsv523130 X 129899164 130024009 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698833 S 2026 1 0 ARHGAP36 esv29550 X 130058577 130102318 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11667 S 451 1 0 "" NA12239 nsv517789 X 130062381 130168304 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694597,nssv682565,nssv653271 M 2026 3 0 "" nsv508802 X 130096529 130104755 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619604,nssv620959,nssv618151,nssv623607 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 esv1386897 X 130098360 130098933 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4356722 S 2 0 1 "" HuRef esv1464362 X 130098973 130099073 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3726109 S 2 0 1 "" HuRef nsv528179 X 130128298 130508611 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704729 S 2026 1 0 IGSF1,OR13H1 nsv522699 X 130232035 130250303 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv706110 S 2026 1 0 IGSF1 nsv520550 X 130255670 130317398 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv687736,nssv672464,nssv701310,nssv686887 M 2026 4 0 "" nsv7091 X 130457384 130460842 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1868 S 9 1 0 "" NA18555 nsv424928 X 130481674 130483603 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443506 M 24 "" nsv520989 X 130721638 130795972 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697724 S 2026 1 0 LOC286467 esv272972 X 130749597 130749933 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581729,essv2582449,essv2583231 M 7 3 0 Samples from several populations that are part of the HapMap project. LOC286467 NA12878,NA12891,NA12892 esv267681 X 130749606 130749934 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2565792,essv2571799,essv2536719,essv2522689,essv2545298,essv2523251,essv2531994,essv2550270,essv2552309,essv2564607,essv2559581,essv2565485,essv2520004,essv2537315,essv2578791,essv2536960,essv2544991,essv2562857,essv2541433,essv2538377,essv2540320,essv2560970,essv2539831,essv2549418,essv2559893,essv2521905,essv2531084,essv2532620,essv2567721,essv2528981,essv2567487,essv2553183,essv2568853,essv2573042,essv2567250,essv2543283,essv2573276,essv2538811,essv2545250,essv2549804,essv2571424,essv2548936,essv2563349 M 157 43 0 Samples from several populations that are part of the HapMap project. LOC286467 NA07037,NA10847,NA11829,NA11840,NA11920,NA11931,NA12003,NA12004,NA12006,NA12234,NA12489,NA12751,NA12776,NA12812,NA12815,NA12878,NA18510,NA18517,NA18526,NA18532,NA18545,NA18547,NA18552,NA18562,NA18563,NA18564,NA18570,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18605,NA18861,NA18942,NA18947,NA18965,NA18969,NA19108,NA19172,NA19225,NA19238 nsv510859 X 130809530 130856423 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618885 S 4 0 1 "" NA10860 esv5809 X 130832991 130835558 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28250 S 1 0 0 "" SJK esv25075 X 130833308 130836266 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12804 S 451 0 11 "" NA11894,NA11931,NA11993,NA12004,NA12006,NA12776,NA18517,NA18523,NA18858,NA19108,NA19225 esv4414 X 130917028 130917363 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26855 S 1 0 1 Single Asian sample YH "" YH esv6971 X 130917047 130917284 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29412 S 1 0 1 "" SJK nsv7092 X 130918971 130950317 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8781 S 9 0 1 "" NA12156 nsv515171 X 130990640 130991896 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628421 S 1414 1 0 MST4 nsv425419 X 131006475 131006570 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443997 M 24 MST4 nsv510860 X 131281143 131313650 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618886 S 4 0 1 "" NA10860 esv1771993 X 131358453 131358453 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4205190 S 2 1 0 MBNL3 HuRef esv26650 X 131450648 131451456 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13535 S 451 0 1 MBNL3 NA11993 nsv7093 X 131571039 131597909 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8782 S 9 1 0 HS6ST2 NA12156 esv267670 X 131674177 131674262 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517978 S 157 1 0 Samples from several populations that are part of the HapMap project. HS6ST2 NA12872 nsv7094 X 131735283 131768637 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv909 S 9 1 0 HS6ST2 NA19240 esv21961 X 131766948 131769233 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10118 S 451 0 3 HS6ST2 NA11993,NA12239,NA12828 nsv7095 X 131856708 131888044 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv911 S 9 1 0 HS6ST2 NA19240 esv33324 X 131913590 131913972 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99995 S 51 0 1 HS6ST2 22086 nsv7096 X 131915975 131949767 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv912 S 9 1 0 HS6ST2 NA19240 nsv7097 X 132038955 132083591 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8783 S 9 0 1 "" NA12156 esv1001438 X 132222319 132226074 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568050 S 3 0 1 "" HuRef nsv7098 X 132226619 132260043 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8784 S 9 1 0 "" NA12156 nsv7100 X 132290870 132325378 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2840 S 9 1 0 GPC4 NA18555 nsv510560 X 132402355 132408355 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621376,nssv618486,nssv624108,nssv622210 M 4 0 4 "" CHM,NA10860,NA15510,NA18994 esv1277709 X 132490884 132490884 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3604123 S 2 1 0 "" HuRef esv1502189 X 133195722 133195722 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4262655 S 2 1 0 "" HuRef esv25484 X 133222186 133224664 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13621 S 451 0 2 "" NA18907,NA19190 nsv510861 X 133224812 133295331 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618887 S 4 0 1 "" NA10860 nsv7101 X 133283648 133328590 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8785 S 9 0 1 "" NA12156 nsv521188 X 133349148 133350390 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv684219,nssv689013 M 2026 0 2 PHF6 nsv517076 X 133509084 133537802 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv669029,nssv665962,nssv653739,nssv669292,nssv651840,nssv674671,nssv657063,nssv652127 M 2026 8 0 LOC100506757,PLAC1 nsv521470 X 133509084 133571184 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698080 S 2026 1 0 LOC100506757,PLAC1 nsv525660 X 133541438 133566010 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701816 S 2026 1 0 PLAC1 nsv521365 X 133548194 133550280 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697975 S 2026 1 0 PLAC1 nsv7102 X 133607784 133620089 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5259 S 9 1 0 PLAC1 NA19129 nsv507997 X 133846056 133852056 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623097 S 4 1 0 MOSPD1 NA18994 esv1716746 X 133974610 133974610 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4017513 S 2 1 0 "" HuRef nsv512699 X 133987782 133989779 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625322 S 1 0 1 "" 1 esv7878 X 133989159 133989725 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30319 S 1 0 1 "" SJK esv1683253 X 133989183 133989734 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4063182 S 2 0 1 "" HuRef nsv7103 X 134022625 134033134 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1869 S 9 0 1 "" NA18555 dgv2476e1 X 134028553 134325981 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv301,essv7690 M 271 0 0 CXorf48,LINC00087,LOC100129515,ZNF449,ZNF75D NA18633 nsv469825 X 134073929 134226270 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649846 M 265 4 2 Samples from several populations that are part of the HapMap project. CXorf48,LOC100129515 esv1435104 X 134077314 134077314 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4219920 S 2 1 0 "" HuRef nsv7458 X 134106841 134230880 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6376,nssv6377,nssv913,nssv914,nssv5260 M 9 0 0 CXorf48 NA12156,NA19129,NA19240 nsv7104 X 134217662 134263125 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6378 S 9 0 1 ZNF75D NA12156 nsv469871 X 134249128 134425978 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649892 M 265 0 2 Samples from several populations that are part of the HapMap project. LINC00086,ZNF449,ZNF75D nsv528014 X 134320950 134429290 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704542 S 2026 1 0 LINC00086,ZNF449 nsv522205 X 134336200 134495417 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694979 S 2026 1 0 DDX26B,LINC00086 nsv518380 X 134351503 134424971 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695811 S 2026 1 0 LINC00086 nsv9973 X 134392158 134400540 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25816,nssv25188 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA07029,NA07048 nsv818037 X 134419396 134434090 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417764 S 112 1 0 "" NA18978 dgv2477e1 X 134430203 134805656 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv22658,essv6375,essv8306 M 271 0 0 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,DDX26B,SAGE1 NA12752,NA18572,NA19103 esv785 X 134430203 134982407 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent + Affymetrix GeneChip Mapping 500K Early Access Array (250K_Sty_SNP + 250K_Nsp_SNP) "" S 271 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,DDX26B,MMGT1,SAGE1,SLC9A6 dgv531n21 X 134495417 134653232 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv523594,nsv519163 M 2026 2 0 DDX26B nsv518577 X 134549966 134665624 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694250 S 2026 1 0 "" esv27752 X 134554948 134799280 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11158,esv15368,esv13047,esv18756,esv16104 M 451 9 5 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6 NA06985,NA07045,NA11894,NA11931,NA12156,NA18502,NA18505,NA18511,NA18523,NA18858,NA18907,NA18916,NA19190,NA19257 dgv2478e1 X 134568194 134634905 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21642,essv20730 M 271 0 0 "" NA12752,NA12761 dgv2479e1 X 134568194 134775700 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8044,essv12947,essv8684 M 271 0 0 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5 NA18912,NA19102,NA19103 nsv9974 X 134574949 134583455 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27493 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12155 nsv517224 X 134607100 134738060 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683393,nssv654065,nssv686590,nssv689934,nssv697774,nssv673745,nssv672754,nssv661735,nssv666491,nssv680498,nssv656720,nssv668225,nssv682872 M 2026 12 1 CT45A1,CT45A2,CT45A3,CT45A4 nsv527747 X 134607100 134821671 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704233 S 2026 1 0 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,SAGE1 nsv7459 X 134618182 134632379 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10738 S 9 0 0 "" NA18956 nsv9975 X 134628523 134635985 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27605 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv1007404 X 134628941 134629004 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582240 S 3 0 1 "" HuRef esv1230739 X 134628944 134629008 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3940196 S 2 0 1 "" HuRef nsv7105 X 134662090 134733681 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11226,nssv9253,nssv1870 M 9 0 3 CT45A1,CT45A2,CT45A3,CT45A4 NA15510,NA18517,NA18555 nsv7460 X 134664810 134823894 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5261,nssv6380,nssv915,nssv1871,nssv6379,nssv5262 M 9 0 0 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,SAGE1 NA12156,NA18555,NA19129,NA19240 esv1010013 X 134665371 134810400 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586397 S 3 1 0 CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,SAGE1 HuRef nsv9976 X 134671440 134801389 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28262,nssv26976,nssv26043,nssv26023,nssv27651,nssv26986,nssv26439,nssv23609,nssv23291,nssv25238,nssv25213,nssv26409,nssv27531,nssv25263,nssv27539,nssv23637,nssv27643,nssv26424,nssv28230 M 31 8 1 Samples from several populations that are part of the HapMap project. CT45A1,CT45A2,CT45A3,CT45A4,CT45A5,CT45A6 NA07029,NA12155,NA12872,NA18504,NA18563,NA18572,NA18853,NA18860,NA19144 nsv215 X 134678554 134733681 CNV Loss Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv215 S 1 0 1 CT45A1,CT45A2,CT45A3,CT45A4 NA15510 nsv7106 X 134685555 134691373 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10740,nssv10739 M 9 1 0 "" NA18956 nsv515173 X 134685696 134690624 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627218 S 1414 0 0 "" dgv2480e1 X 134689741 134805656 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv13751,essv20434,essv22142,essv13552,essv12517,essv12253,essv22876,essv13719,essv12837,essv23487,essv9227,essv7851,essv22039,essv24908,essv22946,essv16647,essv16918,essv3222,essv12288,essv11696,essv20882,essv4669,essv9321,essv13860,essv12965,essv8928,essv17171,essv16774,essv12738,essv15834,essv18951,essv16008,essv3524,essv11750,essv3985,essv401 M 271 0 0 CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,SAGE1 NA06994,NA07034,NA07357,NA10830,NA10857,NA12005,NA12154,NA12760,NA12801,NA18501,NA18504,NA18558,NA18622,NA18853,NA18854,NA18859,NA18872,NA18914,NA18965,NA18970,NA18971,NA18974,NA19101,NA19119,NA19120,NA19128,NA19138,NA19142,NA19144,NA19153,NA19154,NA19160,NA19171,NA19200,NA19207,NA19223 essv24688 X 134689741 134982407 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,MMGT1,SAGE1,SLC9A6 NA11829 nsv515174 X 134694176 134701776 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627220 S 1414 0 0 CT45A2,CT45A4 nsv469568 X 134695124 134855096 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649680 M 265 86 0 Samples from several populations that are part of the HapMap project. CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,SAGE1 nsv471605 X 134695125 134855096 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549352,nssv549364,nssv549372,nssv549369,nssv549353,nssv549384,nssv549359,nssv549363,nssv549376,nssv549370,nssv549368,nssv549362,nssv549377,nssv549374,nssv549355,nssv549371,nssv549380,nssv549378,nssv549381,nssv549360,nssv549382,nssv549367,nssv549375,nssv549356,nssv549358,nssv549357,nssv549350,nssv549351,nssv549366,nssv549383,nssv549361,nssv549379,nssv549354,nssv549365,nssv549373 M 48 25 10 CT45A2,CT45A3,CT45A4,CT45A5,CT45A6,SAGE1 JK1051,JK1061,JK776,NA10470,NA10471,NA10472,NA10473,NA10493,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA15724,NA15725,NA15726,NA15727,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA17014,NA17016,NA17017,NA17051,NA17052,NA17058,NA17059 nsv7107 X 134761629 134833807 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9254,nssv916 M 9 0 2 CT45A4,CT45A5,CT45A6,SAGE1 NA18517,NA19240 nsv499485 X 134778866 134796466 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586141 S 9 0 1 CT45A5,CT45A6 esv1531072 X 134780239 134797489 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4260504 S 2 0 1 CT45A5,CT45A6 HuRef nsv527358 X 134818744 134874484 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703788 S 2026 1 0 MMGT1,SAGE1 nsv9977 X 134840410 134864536 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26062,nssv26453,nssv27659,nssv23665,nssv27547,nssv28264,nssv26996,nssv25288 M 31 7 1 Samples from several populations that are part of the HapMap project. "" NA07029,NA12155,NA18504,NA18563,NA18572,NA18853,NA18860,NA19144 nsv512700 X 134984061 134986871 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625323 S 1 0 1 "" 1 esv2431183 X 134985394 134986940 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5210145 S 1 0 1 "" NA18507 esv2174525 X 134985453 134986174 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4885373 S 1 0 1 "" NA18507 esv4929 X 134985606 134986036 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27370 S 1 0 1 Single Asian sample YH "" YH esv1307374 X 134985665 134985996 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4269963 S 2 0 1 "" HuRef esv7815 X 134985672 134985977 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30256 S 1 0 1 "" SJK nsv7108 X 135064746 135095837 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8787 S 9 0 1 FHL1 NA12156 esv1692557 X 135360982 135360982 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348235 S 2 1 0 "" HuRef esv1222833 X 135361015 135361015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3900529 S 2 1 0 "" HuRef esv2012021 X 135390658 135391162 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4537022 S 1 0 1 "" NA18507 nsv425281 X 135509627 135518089 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443859 M 24 "" nsv7109 X 135596484 135630419 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8788 S 9 1 0 ARHGEF6 NA12156 esv269213 X 135853339 135853424 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515455,essv2518161 M 157 2 0 Samples from several populations that are part of the HapMap project. "" NA12249,NA12872 esv2553057 X 135920432 135920833 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5316577 S 1 1 0 "" NA18507 nsv7111 X 135948530 135994116 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6381 S 9 0 1 "" NA12156 nsv522722 X 136004941 136077373 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698353 S 2026 1 0 "" esv25349 X 136014181 136016676 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19867 S 451 0 1 "" NA19114 nsv829402 X 136014831 136020303 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1440788 S 31 0 1 "" NA18564 esv2643544 X 136176888 136177889 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5375947 S 1 1 0 "" NA18507 esv269403 X 136177469 136177814 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2558089,essv2565617,essv2576042,essv2540758,essv2571700,essv2546462,essv2521159,essv2526199,essv2542597,essv2536370,essv2543926,essv2571044,essv2568225,essv2545266,essv2523391,essv2531935,essv2577578,essv2570519,essv2548520,essv2521607,essv2576543,essv2550767,essv2525416,essv2535180,essv2554262,essv2544347,essv2520308,essv2547427,essv2564429,essv2577892,essv2553592,essv2559484,essv2565261,essv2520211,essv2564266,essv2555087,essv2561754,essv2537456,essv2546894,essv2557484,essv2569561,essv2550156,essv2536868,essv2569856,essv2527196,essv2552794,essv2541180,essv2538333,essv2540390,essv2524474,essv2564810,essv2534747,essv2561256,essv2549252,essv2519917,essv2559871,essv2522109,essv2532880,essv2528994,essv2541494,essv2570104,essv2553478,essv2572490,essv2559328,essv2551139,essv2556236,essv2562358,essv2556066,essv2531642,essv2573751,essv2577185,essv2571988,essv2526788,essv2529558,essv2575688,essv2526416,essv2574584,essv2568701,essv2545048,essv2571112,essv2536170,essv2537737,essv2548961,essv2533290,essv2554389,essv2547856,essv2563227 M 157 87 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07037,NA07051,NA07346,NA07347,NA10847,NA10851,NA11829,NA11830,NA11831,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11992,NA11993,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12144,NA12154,NA12155,NA12156,NA12249,NA12287,NA12414,NA12716,NA12717,NA12751,NA12761,NA12763,NA12776,NA12812,NA12815,NA12828,NA12872,NA12874,NA12878,NA12892,NA18499,NA18508,NA18511,NA18517,NA18520,NA18522,NA18542,NA18545,NA18547,NA18552,NA18555,NA18558,NA18561,NA18562,NA18564,NA18566,NA18570,NA18571,NA18576,NA18579,NA18592,NA18593,NA18605,NA18609,NA18638,NA18858,NA18871,NA18909,NA18956,NA18961,NA18964,NA18970,NA18973,NA19005,NA19093,NA19099,NA19114,NA19138,NA19147,NA19172,NA19238 esv273007 X 136177474 136177753 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584145,essv2583748 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1537335 X 136177506 136177506 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4081953 S 2 1 0 "" HuRef esv988505 X 136223324 136226152 CNV Insertion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565413 S 3 1 0 "" HuRef nsv513624 X 136224908 136226173 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626876 S 1 1 0 "" 1 esv1649556 X 136225364 136225364 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3613444 S 2 1 0 "" HuRef esv1135987 X 136225366 136225366 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3603296 S 2 1 0 "" HuRef esv1726242 X 136225916 136225970 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4348379 S 2 0 1 "" HuRef nsv510561 X 136259595 136265595 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622211 S 4 0 1 "" NA10860 nsv523370 X 136315359 136359507 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699119 S 2026 0 1 "" nsv510862 X 136332015 136412250 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618888 S 4 0 1 "" NA10860 nsv522544 X 136387565 136600584 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705924 S 2026 1 0 ZIC3 nsv7112 X 136438798 136473418 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv2841 S 9 1 0 "" NA18555 nsv510562 X 136628319 136634319 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618487,nssv621377 M 4 0 2 "" CHM,NA15510 esv2549307 X 136784456 136785480 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5266848 S 1 1 0 "" NA18507 esv269988 X 136784933 136785244 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2521441,essv2526270,essv2536762,essv2543878,essv2577261,essv2570570,essv2548600,essv2550639,essv2525349,essv2535343,essv2554115,essv2552067,essv2547215,essv2564739,essv2577995,essv2559770,essv2565440,essv2564151,essv2554887,essv2537700,essv2528545,essv2546849,essv2557231,essv2552379,essv2551831,essv2532122,essv2569475,essv2578507,essv2537171,essv2527075,essv2544666,essv2524636,essv2539867,essv2549559,essv2519651,essv2522279,essv2532586,essv2529017,essv2541638,essv2553258,essv2559226,essv2568841,essv2543460,essv2528087,essv2572942,essv2529939,essv2573773,essv2531536,essv2526859,essv2529506,essv2575460,essv2575353,essv2538728,essv2526401,essv2560523,essv2574737,essv2568479,essv2545139,essv2548105,essv2571132,essv2551317,essv2536057,essv2537758,essv2554759,essv2563191 M 157 65 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07000,NA07346,NA10847,NA11894,NA11918,NA11920,NA11992,NA12043,NA12044,NA12045,NA12155,NA12156,NA12249,NA12287,NA12489,NA12717,NA12751,NA12761,NA12776,NA12812,NA12828,NA12872,NA12878,NA12891,NA12892,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18522,NA18526,NA18555,NA18563,NA18564,NA18566,NA18571,NA18576,NA18579,NA18592,NA18605,NA18638,NA18861,NA18870,NA18907,NA18942,NA18949,NA18951,NA18961,NA19005,NA19093,NA19099,NA19102,NA19108,NA19114,NA19116,NA19138,NA19147,NA19172,NA19210,NA19238,NA19257 esv274569 X 136784937 136785246 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581704,essv2584064 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA19238 esv33453 X 136788125 136788430 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101560,essv94666,essv95438,essv97413,essv101689,essv99099,essv92835,essv92719,essv98071 M 51 0 9 "" 21603,21791,21847,21879,21909,21938,21939,21944,22259 esv259546 X 136789381 136789718 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394114,essv2393930,essv2393850,essv2393723 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA12892,NA19238 esv259994 X 136789393 136789728 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2400187,essv2400888,essv2399949,essv2399362,essv2400782,essv2397319,essv2401056,essv2396956,essv2397683,essv2400411,essv2400095,essv2399510,essv2395966 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA07037,NA11993,NA12156,NA12287,NA12717,NA12878,NA12891,NA12892,NA18502,NA18592,NA18861,NA19137,NA19238 esv32806 X 136811145 137286538 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94850,essv99254 M 51 0 2 "" 22231,22275 nsv508803 X 136838970 136838970 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618152 S 4 1 0 "" CHM nsv507998 X 136842755 136848755 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv621976,nssv620488 M 4 2 0 "" NA10860,NA15510 esv28863 X 137069994 137075667 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14204 S 451 0 1 "" NA12414 nsv470365 X 137083017 137239743 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547061 S 443 0 1 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00915 esv1746149 X 137098849 137099072 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4009803 S 2 0 1 "" HuRef esv1028364 X 137179785 137179785 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3722855 S 2 1 0 "" HuRef esv2563885 X 137191831 137193579 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5237428 S 1 0 1 "" NA18507 nsv524161 X 137261684 137358285 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700040 S 2026 1 0 "" nsv7113 X 137269412 137300158 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8789 S 9 0 1 "" NA12156 nsv527395 X 137296130 137313831 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703830 S 2026 1 0 "" nsv525867 X 137408649 138267509 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702066 S 2026 1 0 FGF13,LOC100129662,LOC158696,MIR504 nsv7114 X 137433105 137464753 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8790 S 9 0 1 "" NA12156 nsv510563 X 137678225 137684225 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624109 S 4 0 1 FGF13 NA18994 esv268077 X 137712014 137712099 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2515364 S 157 1 0 Samples from several populations that are part of the HapMap project. FGF13 NA12249 nsv524567 X 137780243 137904606 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700522 S 2026 1 0 FGF13 nsv7115 X 137820595 137854117 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8791 S 9 1 0 FGF13 NA12156 nsv523403 X 137934767 137951326 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699154 S 2026 1 0 FGF13 esv2477107 X 137984749 137986145 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5372767 S 1 0 1 FGF13 NA18507 esv2385287 X 137985460 137986035 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4522124 S 1 0 1 FGF13 NA18507 esv2871 X 137985625 137986001 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25312 S 1 0 1 Single Asian sample YH FGF13 YH esv1007548 X 137985653 137985842 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3568087 S 3 0 1 FGF13 HuRef esv2623043 X 137985657 137985846 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5174253 S 1 0 1 FGF13 NA18507 esv8695 X 137985659 137985861 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31136 S 1 0 1 FGF13 SJK esv259924 X 138054077 138054424 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2396576,essv2400697,essv2400865,essv2399840,essv2400114,essv2397928,essv2397159,essv2397205,essv2394509 M 144 0 0 Samples from several populations that are part of the HapMap project. FGF13 NA18507,NA18542,NA18564,NA18573,NA18861,NA18907,NA18951,NA19225,NA19257 esv2490876 X 138211769 138213305 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5192991 S 1 0 1 "" NA18507 esv2006348 X 138212385 138213092 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4644131 S 1 0 1 "" NA18507 esv4270 X 138212506 138213026 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26711 S 1 0 1 Single Asian sample YH "" YH esv1001257 X 138212570 138212895 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3577492 S 3 0 1 "" HuRef esv6697 X 138212571 138212857 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29138 S 1 0 1 "" SJK esv1464397 X 138212577 138212903 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4088230 S 2 0 1 "" HuRef esv259498 X 138338605 138338899 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394210,essv2393918,essv2393711,essv2394301 M 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12891,NA19238,NA19240 esv260009 X 138338612 138338911 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2399386,essv2396654,essv2397264,essv2401030,essv2397677,essv2396462,essv2400941,essv2396885,essv2399416,essv2400107,essv2398455,essv2395323,essv2397476,essv2395462,essv2398155,essv2400810,essv2398313,essv2395199,essv2394837,essv2399500,essv2396379,essv2397988,essv2399672,essv2397256,essv2395986,essv2400500 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA12287,NA12414,NA12878,NA12891,NA18502,NA18517,NA18547,NA18579,NA18858,NA18861,NA18871,NA18916,NA18947,NA18948,NA18949,NA18952,NA19093,NA19108,NA19114,NA19137,NA19138,NA19147,NA19210,NA19225,NA19238,NA19240 nsv524240 X 138343450 138390034 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700130 S 2026 1 0 SRD5A1P1 esv1082683 X 138412903 138412903 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4144937 S 2 1 0 "" HuRef esv1318826 X 138413106 138413106 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4223942 S 2 1 0 "" HuRef esv1637120 X 138413252 138413252 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4186929 S 2 1 0 "" HuRef esv1233835 X 138414234 138414304 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4169925 S 2 0 1 "" HuRef nsv521021 X 138470059 138476192 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685013,nssv688511,nssv679989 M 2026 3 0 F9 nsv528242 X 138470059 138500361 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704804 S 2026 1 0 F9,MCF2 nsv523170 X 138570933 138578129 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698882 S 2026 1 0 MCF2 esv268694 X 138572098 138572314 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2511865,essv2510652,essv2509882,essv2495488 M 157 4 0 Samples from several populations that are part of the HapMap project. MCF2 NA18499,NA18501,NA18508,NA18916 nsv7116 X 138643386 138678771 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8793 S 9 0 1 ATP11C NA12156 esv2549975 X 138769177 138770882 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5327230 S 1 0 1 "" NA18507 esv2035876 X 138769420 138770149 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4935985 S 1 0 1 "" NA18507 esv4255 X 138769544 138769997 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26696 S 1 0 1 Single Asian sample YH "" YH nsv7117 X 138776523 138810216 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv917 S 9 1 0 "" NA19240 nsv829403 X 138850922 138855760 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1430327 S 31 1 0 "" AK14 nsv7461 X 138888820 139126166 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6382 S 9 0 0 "" NA12156 nsv7118 X 138929978 138965221 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv918 S 9 1 0 "" NA19240 esv2637301 X 138983872 139048345 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233736 S 1 0 1 "" NA18507 nsv7119 X 139261673 139290431 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv919 S 9 1 0 "" NA19240 nsv7120 X 139320148 139336467 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv920 S 9 0 1 "" NA19240 nsv499153 X 139322539 139330632 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586142 S 9 0 1 "" esv1379491 X 139322818 139322818 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3743796 S 2 1 0 "" HuRef esv28330 X 139323181 139328947 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15273 S 451 0 7 "" NA11993,NA12044,NA18508,NA18517,NA18907,NA19147,NA19240 nsv442816 X 139324076 139328860 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515175 X 139326800 139328912 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628422 S 1414 0 1 "" esv2064191 X 139330505 139330968 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4659470 S 1 0 1 "" NA18507 esv29261 X 139330803 139332524 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14429 S 451 0 1 "" NA18861 nsv829404 X 139402108 139408655 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432640 S 31 1 0 "" AK20 esv33042 X 139445208 139502751 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv100728 S 51 0 1 "" 21656 dgv532n21 X 139480933 139575178 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv522896,nsv526562 M 2026 2 0 "" nsv829405 X 139481415 139489489 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1432641 S 31 1 0 "" AK20 nsv523793 X 139482148 139484584 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699621 S 2026 1 0 "" nsv523487 X 139482148 139531438 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699254 S 2026 1 0 "" nsv7122 X 139513239 139558042 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8794 S 9 0 1 "" NA12156 nsv508804 X 139597588 139643200 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619606,nssv623608,nssv620960 M 4 3 0 RP1-177G6.2 NA10860,NA15510,NA18994 esv6542 X 139633681 139634233 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28983 S 1 0 1 "" SJK nsv523880 X 139644432 139665584 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699722 S 2026 1 0 "" esv274180 X 139681078 139681376 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581769,essv2583189,essv2583916 M 7 3 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238 nsv522346 X 139694858 139704486 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695126 S 2026 1 0 "" nsv519898 X 139714416 139714757 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv691549,nssv672294,nssv659377,nssv677369 M 2026 4 0 "" dgv533n21 X 139714416 139754433 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv527132,nsv517824 M 2026 2 0 "" nsv527249 X 139714757 139766266 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703651 S 2026 1 0 "" nsv521167 X 139756881 139757304 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv683700,nssv693590 M 2026 2 0 "" nsv526418 X 139756881 139759084 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702719 S 2026 0 1 "" nsv523758 X 139766266 139890961 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699578 S 2026 1 0 MIR320D2 dgv2481e1 X 139813929 139972352 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9402,essv16080,essv10862,essv18725,essv4281,essv2325,essv16972,essv9392,essv11556,essv13924,essv17320,essv11457,essv21813,essv23944,essv9139,essv9770,essv19572,essv9649,essv17972,essv17738,essv12456,essv18933,essv16501,essv17451,essv2281 M 271 0 0 MIR320D2,SPANXB1,SPANXB2,SPANXF1 NA11839,NA12003,NA12005,NA12043,NA12814,NA12864,NA12872,NA12874,NA18501,NA18603,NA18853,NA18854,NA18856,NA18857,NA18860,NA18863,NA18871,NA18913,NA18940,NA18966,NA19144,NA19173,NA19207,NA19208,NA19210 dgv2482e1 X 139813929 140295640 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16719,essv24739,essv17519,essv21663,essv12224,essv9256,essv11109,essv23985,essv9595,essv14274,essv11659,essv12832,essv8927,essv23023,essv17112,essv16817,essv18285,essv13513,essv16215 M 271 0 0 LDOC1,MIR320D2,SPANXB1,SPANXB2,SPANXC,SPANXF1 NA10846,NA11829,NA12248,NA12716,NA12762,NA12812,NA18872,NA19101,NA19120,NA19128,NA19141,NA19142,NA19154,NA19160,NA19161,NA19171,NA19194,NA19200,NA19211 dgv2483e1 X 139813929 140661678 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10132,esv519,essv8310 M 271 0 0 LDOC1,MIR320D2,SPANXA1,SPANXA2,SPANXA2-OT1,SPANXB1,SPANXB2,SPANXC,SPANXD,SPANXE,SPANXF1 NA19103,NA19130 nsv829406 X 139866966 139904576 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437920,nssv1430328 M 31 2 0 "" AK14,NA18949 nsv818038 X 139868266 139890961 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417758 S 112 1 0 "" NA18949 nsv433463 X 139868266 139978256 CNV Gain Cooper et al 2008 18776910 SNP_array Illumina Human1Mv1 DNA Analysis BeadChip (Human1Mv1_C) nssv463344 S 9 1 0 Samples from several populations that are part of the HapMap project. SPANXB1,SPANXB2,SPANXF1 NA18555 nsv524931 X 139868266 140052146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700944 S 2026 1 0 SPANXB1,SPANXB2,SPANXF1 dgv2484e1 X 139869165 139888028 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv5867,essv930 M 271 0 0 "" NA18555,NA18949 nsv7462 X 139874095 140551160 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5264,nssv1874,nssv1872 M 9 0 0 LDOC1,SPANXA1,SPANXA2,SPANXA2-OT1,SPANXB1,SPANXB2,SPANXC,SPANXF1 NA18555,NA19129 nsv511087 X 139888212 139947617 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618688 S 4 0 0 SPANXB1,SPANXB2,SPANXF1 CHM nsv508805 X 139901212 139947617 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620961 S 4 1 0 SPANXB1,SPANXB2,SPANXF1 NA15510 nsv510863 X 139901212 139947617 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618889,nssv622650 M 4 0 2 SPANXB1,SPANXB2,SPANXF1 NA10860,NA18994 nsv7123 X 139901218 139947475 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10741,nssv1873 M 9 0 2 SPANXB1,SPANXB2,SPANXF1 NA18555,NA18956 nsv9978 X 139904545 139944655 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26081,nssv25837,nssv23319,nssv25858,nssv27006,nssv25338,nssv26653,nssv27667,nssv23723,nssv27675,nssv28266,nssv25313 M 31 9 0 Samples from several populations that are part of the HapMap project. SPANXB1,SPANXB2,SPANXF1 NA07029,NA07048,NA12872,NA18504,NA18572,NA18853,NA18860,NA19144,NA19173 nsv7124 X 139905769 139923746 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5263,nssv921 M 9 2 0 SPANXB1,SPANXB2,SPANXF1 NA19129,NA19240 nsv821600 X 139909430 139935108 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420210 S 1 0 1 SPANXB1,SPANXB2,SPANXF1 NA10851 esv1002958 X 139909896 139927299 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586734 S 3 0 1 SPANXB1,SPANXB2,SPANXF1 HuRef esv25300 X 139910034 139935071 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15507 S 451 9 3 SPANXB1,SPANXB2,SPANXF1 NA11995,NA12749,NA12776,NA12878,NA18523,NA18858,NA18861,NA18907,NA19099,NA19114,NA19129,NA19147 nsv499192 X 139911410 139927055 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586143 S 9 0 1 SPANXB1,SPANXB2,SPANXF1 nsv515176 X 139911792 139920272 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627221 S 1414 0 0 SPANXB1,SPANXB2,SPANXF1 esv26160 X 139964859 139966731 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10359 S 451 0 3 "" NA18502,NA18511,NA19240 nsv470368 X 140049338 140352172 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547064 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LDOC1,SPANXC HGDP00704 nsv470367 X 140049338 140586993 CNV Loss Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547063,nssv547062 M 443 0 2 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations LDOC1,SPANXA1,SPANXA2,SPANXA2-OT1,SPANXC HGDP00388,HGDP01408 nsv516880 X 140058807 140586993 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv660263,nssv692087,nssv698171,nssv692289,nssv661972,nssv654767,nssv654656,nssv675436,nssv655078,nssv660048,nssv697891,nssv702675,nssv694219,nssv655139,nssv679606,nssv689192,nssv701338,nssv701659,nssv661184,nssv672692,nssv694456,nssv677046 M 2026 21 1 LDOC1,SPANXA1,SPANXA2,SPANXA2-OT1,SPANXC dgv2485e1 X 140138272 140571564 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12949,essv8056 M 271 0 0 SPANXA1,SPANXA2,SPANXA2-OT1,SPANXC NA19102,NA19103 nsv9980 X 140144972 140175457 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28268,nssv25363,nssv23347,nssv25879,nssv26666,nssv27046,nssv26100,nssv27683 M 31 8 0 Samples from several populations that are part of the HapMap project. SPANXC NA07029,NA07048,NA12872,NA18504,NA18853,NA18860,NA19144,NA19173 esv27688 X 140155512 140167422 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10474 S 451 5 3 SPANXC NA06985,NA11995,NA12749,NA12776,NA18511,NA18523,NA18907,NA19129 nsv470370 X 140176173 140268034 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547067 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00879 nsv470369 X 140176173 140537528 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547066 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPANXA1,SPANXA2,SPANXA2-OT1 HGDP01364 dgv269e55 X 140181127 140382870 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv34465,esv34466 M 771 2 0 "" NA19102,NA19103 esv2752315 X 140181127 140580348 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6983251,essv6986383 M 771 1 0 SPANXA1,SPANXA2,SPANXA2-OT1 BEC_559 nsv425426 X 140233124 140233182 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444004 M 24 "" esv25355 X 140303275 140306858 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13530,esv17596 M 451 0 8 "" NA06985,NA12414,NA18508,NA19108,NA19114,NA19225,NA19240,NA19257 dgv66n50 X 140303579 140307733 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array nsv512701,nsv511661 M 1 0 1 "" 1 esv7606 X 140304426 140306904 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30047 S 1 0 1 "" SJK nsv508806 X 140335943 140343399 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623609 S 4 1 0 "" NA18994 nsv9981 X 140346080 140347643 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26367,nssv26467,nssv25388 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA18563,NA19007 nsv9982 X 140359385 140371785 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26412 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA19007 dgv2486e1 X 140421868 140603155 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv21710,essv23996,essv16645,essv9201,essv18296,essv8924,essv12263,essv11158,essv24703,essv16296,essv17548 M 271 0 0 SPANXA1,SPANXA2,SPANXA2-OT1 NA10846,NA11829,NA12248,NA12716,NA12762,NA19101,NA19128,NA19142,NA19161,NA19200,NA19211 esv23188 X 140458240 140460006 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19629,esv12233 M 451 0 3 SPANXA2-OT1 NA18502,NA18511,NA19240 essv9625 X 140470293 140661678 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. SPANXA1,SPANXA2,SPANXA2-OT1,SPANXD,SPANXE NA19141 nsv471606 X 140473749 140642275 CNV Gain Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549474,nssv549492,nssv549485,nssv549476,nssv549473,nssv549488,nssv549499,nssv549478,nssv549498,nssv549489,nssv549483,nssv549479,nssv549495,nssv549475,nssv549486,nssv549497,nssv549480,nssv549490,nssv549493,nssv549487,nssv549482,nssv549500,nssv549477,nssv549481,nssv549496,nssv549484,nssv549494,nssv549491 M 48 28 0 SPANXA1,SPANXA2,SPANXA2-OT1,SPANXD,SPANXE JK1061,NA10469,NA10470,NA10471,NA10472,NA10473,NA10493,NA10494,NA10496,NA10967,NA10979,NA11323,NA11521,NA11523,NA15727,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA17015,NA17017,NA17051,NA17052,NA17058,NA17059,P86GA nsv469528 X 140476208 140576463 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649631 M 265 0 5 Samples from several populations that are part of the HapMap project. SPANXA1,SPANXA2,SPANXA2-OT1 nsv9983 X 140480308 140521819 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23405,nssv25900,nssv23777,nssv25921,nssv25413,nssv28270,nssv26119,nssv27056,nssv26679,nssv23750,nssv27691 M 31 9 0 Samples from several populations that are part of the HapMap project. SPANXA1,SPANXA2,SPANXA2-OT1 NA07029,NA07048,NA12872,NA18504,NA18572,NA18853,NA18860,NA19144,NA19173 esv26320 X 140490015 140523198 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14012,esv17186,esv18996 M 451 7 1 SPANXA1,SPANXA2,SPANXA2-OT1 NA12749,NA12776,NA18511,NA18523,NA18858,NA18861,NA18907,NA19129 nsv515177 X 140499600 140500528 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627222 S 1414 0 0 SPANXA1,SPANXA2,SPANXA2-OT1 nsv470371 X 140524781 140586993 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547068 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations SPANXA2-OT1 HGDP00962 nsv9984 X 140594308 140616930 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26691,nssv26138,nssv28272,nssv27699,nssv25972,nssv25468,nssv23433,nssv23804,nssv27066 M 31 9 0 Samples from several populations that are part of the HapMap project. SPANXD,SPANXE NA07029,NA07048,NA12872,NA18504,NA18572,NA18853,NA18860,NA19144,NA19173 esv25564 X 140603511 140617097 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16421 S 451 6 2 SPANXD,SPANXE NA11995,NA12749,NA12776,NA18511,NA18523,NA18858,NA18907,NA19129 nsv470372 X 140626335 140707341 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547069 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations "" HGDP00950 esv1375995 X 140673750 140673750 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3752638 S 2 1 0 "" HuRef nsv425116 X 140705548 140705548 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443694 M 24 "" esv1105995 X 140706205 140706205 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3669156 S 2 1 0 "" HuRef nsv522089 X 140756199 140792415 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694861 S 2026 1 0 MAGEC3 nsv9985 X 140820720 140823505 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27706,nssv26427,nssv27555 M 31 3 0 Samples from several populations that are part of the HapMap project. MAGEC1 NA12155,NA18504,NA19007 esv1703664 X 140821633 140821633 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4090163 S 2 1 0 MAGEC1 HuRef nsv526895 X 140851028 140895582 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703253 S 2026 1 0 "" nsv524726 X 140861017 140961146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700714 S 2026 1 0 "" nsv520124 X 140895582 140940414 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv661816,nssv661006,nssv674946 M 2026 0 3 "" nsv523371 X 140933608 141032829 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699120 S 2026 1 0 "" nsv528591 X 140939456 140964185 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705216 S 2026 1 0 "" nsv520368 X 140951613 140961146 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694378 S 2026 1 0 "" esv2360047 X 140973427 140974498 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4729285 S 1 0 1 "" NA18507 esv1494010 X 140973625 140973625 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4320826 S 2 1 0 "" HuRef nsv507999 X 141014208 141020208 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620489 S 4 1 0 "" NA15510 nsv524561 X 141021857 141031407 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700515 S 2026 1 0 "" nsv523711 X 141023116 141046414 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699523 S 2026 1 0 "" esv1470430 X 141103924 141104312 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3756206 S 2 0 0 "" HuRef esv988564 X 141141753 141148388 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586362 S 3 1 0 "" HuRef esv27304 X 141143083 141148388 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14463 S 451 1 0 "" NA12287 dgv534n21 X 141168134 141197778 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv524521,nsv521559 M 2026 2 0 "" nsv9986 X 141294350 141300931 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26481 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv7125 X 141296784 141315539 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1875 S 9 0 1 "" NA18555 nsv526479 X 141297113 141387842 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702787 S 2026 1 0 "" nsv515178 X 141297856 141299888 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628423 S 1414 0 1 "" nsv818040 X 141299011 141300961 CNV Loss Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417753 S 112 0 1 "" NA18547 nsv438156 X 141299272 141300961 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470223,nssv470224 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18562,NA18563 esv2054623 X 141357070 141357519 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4565532 S 1 0 1 "" NA18507 esv2479445 X 141400306 141401737 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5360828 S 1 0 1 "" NA18507 esv991368 X 141401040 141401193 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3571685 S 3 0 1 "" HuRef esv1469632 X 141401122 141401276 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742536 S 2 0 1 "" HuRef dgv535n21 X 141421647 141425785 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv525614,nsv522478 M 2026 2 0 "" nsv7126 X 141451498 141476380 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10742 S 9 1 0 "" NA18956 esv1011095 X 141511720 141512178 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586077 S 3 0 1 "" HuRef nsv528836 X 141600415 141767742 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705512 S 2026 1 0 "" nsv510564 X 141645579 141651579 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624110 S 4 0 1 "" NA18994 nsv7127 X 141683341 141717129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8795 S 9 1 0 "" NA12156 dgv2487e1 X 141697366 141896381 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1372,essv6709,essv4714,essv20802,essv22663,essv1230,essv1016,essv3964,essv23839,essv17513,essv11083,essv5401,essv24796,essv18724,essv6612,essv7722,essv20265,essv5448,essv5290,esv235,essv17669,essv13467,essv19637,essv896,essv23904,essv23232,essv17146,essv12757,essv1443,essv211,essv18947,essv475,essv3742,essv17234,essv3516,essv2272,essv12597,essv2654,essv15810 M 271 0 0 "" NA07022,NA07029,NA10860,NA11881,NA12005,NA12144,NA12146,NA12155,NA12752,NA12762,NA12814,NA12874,NA18503,NA18563,NA18608,NA18621,NA18622,NA18624,NA18632,NA18633,NA18914,NA18944,NA18948,NA18952,NA18961,NA18965,NA18966,NA18967,NA18970,NA18995,NA19000,NA19005,NA19007,NA19098,NA19171,NA19192,NA19211,NA19223 nsv520228 X 141711261 141779863 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697294 S 2026 1 0 "" esv1547414 X 141759819 141759819 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4116709 S 2 1 0 "" HuRef esv1043246 X 141760049 141760049 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4149991 S 2 1 0 "" HuRef nsv521083 X 141897918 141899344 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697778 S 2026 1 0 "" nsv525518 X 141897918 141918188 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701651 S 2026 1 0 "" nsv523426 X 141957401 141976154 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699181 S 2026 1 0 "" esv1037333 X 142009696 142009823 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3742617 S 2 0 1 "" HuRef esv2089553 X 142025424 142025926 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4857694 S 1 0 1 "" NA18507 nsv7128 X 142080274 142111458 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10743 S 9 1 0 "" NA18956 nsv524522 X 142247723 142318192 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700470 S 2026 1 0 "" nsv527250 X 142318192 142334080 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703652 S 2026 0 1 "" esv268772 X 142326730 142326895 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2504324,essv2498891,essv2497091,essv2501949,essv2498028 M 157 5 0 Samples from several populations that are part of the HapMap project. "" NA18505,NA19138,NA19190,NA19239,NA19240 esv273109 X 142326782 142326939 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2584604,essv2583296 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19239,NA19240 nsv7129 X 142377045 142446253 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8796,nssv922 M 9 0 2 SPANXN3 NA12156,NA19240 nsv499374 X 142389616 142393124 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586144 S 9 0 1 "" esv27864 X 142389629 142392852 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16788 S 451 0 1 "" NA19240 esv33177 X 142448504 142473683 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98080,essv99347,essv98506 M 51 0 3 "" 22259,22275,22352 nsv7130 X 142489206 142520621 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv923 S 9 1 0 "" NA19240 nsv523133 X 142500820 142519929 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698838 S 2026 1 0 "" esv991694 X 142533556 142533619 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3572316 S 3 0 1 "" HuRef esv1017404 X 142533557 142533621 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4188900 S 2 0 1 "" HuRef nsv526800 X 142691161 142781805 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703154 S 2026 1 0 "" nsv523256 X 142696458 142837959 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698985 S 2026 1 0 UBE2NL esv269006 X 142713385 142713543 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2497330,essv2497135,essv2508243 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18545,NA18552,NA18561 nsv521222 X 142732459 142756273 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv686014,nssv689992 M 2026 2 0 "" nsv508807 X 142938405 142986957 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623610 S 4 1 0 "" NA18994 esv32987 X 142983707 142984871 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99324 S 51 0 1 "" 22275 esv27760 X 142988600 143123298 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18744 S 451 2 0 "" NA12287,NA12489 esv1010094 X 142988696 143123277 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586320 S 3 1 0 "" HuRef esv33873 X 143129028 143129510 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99792 S 51 0 1 "" 22086 nsv7131 X 143211014 143242273 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1876 S 9 0 1 "" NA18555 nsv512702 X 143234593 143237706 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625325 S 1 0 1 "" 1 nsv499599 X 143234655 143237662 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586145 S 9 0 1 "" esv9130 X 143234660 143237654 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31571 S 1 0 1 "" SJK esv270216 X 143248335 143248526 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508697,essv2496107,essv2512916,essv2497371 M 157 4 0 Samples from several populations that are part of the HapMap project. "" NA18592,NA18603,NA18609,NA18959 nsv517977 X 143302828 143320878 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695389 S 2026 1 0 "" esv1291199 X 143332856 143332856 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3590238 S 2 1 0 "" HuRef nsv829407 X 143436147 143439293 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437463 S 31 0 1 "" NA18592 esv23384 X 143436378 143445651 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10766 S 451 0 1 "" NA12044 nsv7133 X 143454327 143513468 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv924,nssv8797 M 9 2 0 "" NA12156,NA19240 esv273622 X 143512280 143518216 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580636,essv2579601 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 nsv516515 X 143515360 143629479 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698986,nssv673938,nssv695473,nssv668782,nssv688899,nssv685703,nssv685410,nssv672024,nssv688301,nssv691148,nssv672973,nssv680331,nssv682507 M 2026 13 0 "" esv270878 X 143530960 143531316 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2499367,essv2510338,essv2502593,essv2493436,essv2496368,essv2509599,essv2498922,essv2512158,essv2497987,essv2502219,essv2503606 M 157 11 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA11994,NA12414,NA12750,NA12763,NA18510,NA19129,NA19138,NA19238,NA19240,NA19257 esv273324 X 143530969 143531111 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582108,essv2582953,essv2584086,essv2584858,essv2583637 M 7 5 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19239,NA19240 esv1049643 X 143536897 143536897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4151235 S 2 1 0 "" HuRef esv2270934 X 143557516 143557896 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4514201 S 1 0 1 "" NA18507 nsv523671 X 143560125 143671997 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699473 S 2026 1 0 "" esv2473331 X 143650411 143652168 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5162365 S 1 0 1 "" NA18507 esv2300577 X 143650786 143651509 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4794577 S 1 0 1 "" NA18507 nsv425181 X 143650986 143651292 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443759 M 24 "" nsv7134 X 143834698 143880138 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6383 S 9 0 1 "" NA12156 nsv522555 X 143947614 143958513 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705936 S 2026 1 0 "" nsv519882 X 143954012 144031382 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697103 S 2026 1 0 "" esv259797 X 143975305 143975603 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2401128,essv2397681,essv2399762 M 144 0 0 Samples from several populations that are part of the HapMap project. "" NA11931,NA18502,NA19129 nsv528629 X 144092677 144130329 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705259 S 2026 1 0 "" nsv522897 X 144109664 144162231 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698555 S 2026 1 0 SPANXN1 dgv536n21 X 144110845 144126869 CNV Gain Shaikh et al 2009 19592680 SNP_array nsv521264,nsv524712 M 2026 3 0 "" esv2560738 X 144129626 144131455 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5286899 S 1 0 1 "" NA18507 esv2163648 X 144130137 144131098 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4645419 S 1 0 1 "" NA18507 dgv537n21 X 144139372 144273211 CNV Loss Shaikh et al 2009 19592680 SNP_array nsv527680,nsv518796 M 2026 0 2 SPANXN1 nsv523140 X 144162231 144193420 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698847 S 2026 1 0 "" nsv511655 X 144223644 144235735 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626291 S 1 0 1 "" 1 nsv425301 X 144227283 144227283 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443879 M 24 "" esv1002039 X 144227851 144232716 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565815 S 3 0 1 "" HuRef esv2425052 X 144228998 144232736 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5301547 S 1 0 1 "" NA18507 esv1956936 X 144229589 144232369 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4804464 S 1 0 1 "" NA18507 nsv512703 X 144229723 144232218 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625326 S 1 0 1 "" 1 esv5319 X 144229728 144232265 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27760 S 1 0 1 Single Asian sample YH "" YH esv29124 X 144229856 144232197 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21406,esv12210 M 451 9 2 "" NA18505,NA18508,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19129,NA19147,NA19225 nsv820806 X 144229856 144232197 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420211 S 1 0 1 "" NA10851 nsv515179 X 144229952 144231392 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628424 S 1414 1 0 "" nsv425550 X 144250911 144250911 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444128 M 24 "" nsv527757 X 144270169 144375939 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704244 S 2026 1 0 "" esv1613785 X 144384359 144384359 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3836430 S 2 1 0 "" HuRef nsv7135 X 144613863 144647450 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8798 S 9 1 0 "" NA12156 nsv520221 X 144640218 144666579 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv679348,nssv661973 M 2026 2 0 "" nsv524350 X 144648127 144686805 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700258 S 2026 1 0 "" nsv524002 X 144722927 144753774 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699862 S 2026 1 0 "" nsv524594 X 144782129 144803585 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700554 S 2026 1 0 "" nsv526619 X 144782129 144821776 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702939 S 2026 1 0 "" esv269925 X 144792195 144792345 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500387 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA18537 esv29883 X 144859840 144862667 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17351 S 451 0 1 "" NA18508 esv2582276 X 144879648 144880079 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5233899 S 1 1 0 "" NA18507 nsv513625 X 144879687 144880164 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626877 S 1 1 0 "" 1 esv1453888 X 144879769 144879769 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3749416 S 2 1 0 "" HuRef esv1415107 X 144924357 144924413 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4352633 S 2 0 1 "" HuRef nsv521836 X 145026857 145154227 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694609 S 2026 1 0 "" esv2220121 X 145137404 145138094 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4829411 S 1 0 1 "" NA18507 esv8580 X 145137603 145137929 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31021 S 1 0 1 "" SJK esv1485046 X 145144897 145144897 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4328138 S 2 1 0 "" HuRef nsv425046 X 145150721 145150806 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443624 M 24 "" nsv517790 X 145257570 145347820 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv685704,nssv705837,nssv688829,nssv653272 M 2026 4 0 "" esv269291 X 145346763 145347078 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2510233,essv2513191,essv2505054,essv2494217,essv2494954,essv2505796,essv2493927,essv2513350,essv2503670 M 157 9 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA10851,NA12249,NA12828,NA18502,NA18520,NA18861,NA18871,NA18907 nsv510565 X 145372080 145378080 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618488 S 4 0 1 "" CHM nsv527981 X 145394661 145458411 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704499 S 2026 1 0 "" nsv523224 X 145458411 145475483 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698946 S 2026 1 0 "" esv2618337 X 145622642 145623528 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5353252 S 1 1 0 "" NA18507 esv1397064 X 145622912 145622912 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3589339 S 2 1 0 "" HuRef nsv7136 X 145634316 145667809 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8799 S 9 1 0 "" NA12156 esv1459319 X 145697484 145697484 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3766339 S 2 1 0 "" HuRef esv27791 X 145698896 145705194 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20716,esv15044 M 451 0 4 CXorf51A NA07045,NA11931,NA12749,NA12776 esv1764980 X 145701578 145701578 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3708796 S 2 1 0 "" HuRef nsv512704 X 145750602 145751679 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625327 S 1 0 1 "" 1 esv4300 X 145750804 145751713 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26741 S 1 0 1 Single Asian sample YH "" YH esv9554 X 145750838 145751654 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31995 S 1 0 1 "" SJK esv22689 X 145846097 145850361 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17270,esv19283,esv11405 M 451 0 4 "" NA18502,NA18909,NA19114,NA19190 nsv7137 X 145855386 145886417 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11227 S 9 1 0 "" NA15510 nsv517085 X 145908732 145939966 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv653586,nssv681518,nssv681387 M 2026 3 0 "" nsv527310 X 145928810 145953196 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703732 S 2026 1 0 "" dgv2488e1 X 145931601 146596395 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1574,esv1153 M 271 0 0 MIR506,MIR507,MIR508,MIR509-1,MIR509-2,MIR509-3,MIR510,MIR514-1,MIR514-2,MIR514-3,MIR514B NA18997 nsv516075 X 145946943 145953196 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv690845,nssv662395,nssv673959,nssv685014,nssv679990,nssv689881,nssv666198,nssv671619,nssv666040,nssv675753 M 2026 10 0 "" nsv527520 X 145946943 145964923 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703974 S 2026 1 0 "" esv35128 X 145956371 146541854 CNV Gain Pinto_et_al_2007 17911159 SNP_array Affymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array essv6978290,essv6978291,essv6986585 M 771 1 0 MIR506,MIR507,MIR508,MIR509-1,MIR509-2,MIR509-3,MIR510,MIR514-1,MIR514-2,MIR514-3,MIR514B NA18997 nsv9987 X 145987331 145993762 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23461 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 esv28986 X 145987590 145993573 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13305 S 451 0 1 "" NA11894 nsv438157 X 145987801 145990333 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470225 S 269 0 1 Samples from several populations that are part of the HapMap project. "" NA12872 nsv522829 X 146118006 146136523 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698479 S 2026 1 0 MIR506,MIR507,MIR508 nsv521982 X 146118006 146269364 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694749 S 2026 1 0 MIR506,MIR507,MIR508,MIR509-1,MIR509-2,MIR509-3,MIR510,MIR514-1,MIR514-2,MIR514-3,MIR514B esv259610 X 146120827 146121090 OTHER Complex 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing Illumina Genome Analyzer II essv2394250 S 6 0 0 Samples from several populations that are part of the HapMap project. "" NA12878 nsv508808 X 146123853 146180774 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620962,nssv618153 M 4 2 0 MIR508,MIR509-1,MIR509-2,MIR509-3,MIR510,MIR514-1,MIR514-2,MIR514-3,MIR514B CHM,NA15510 nsv7138 X 146152065 146191792 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv11228,nssv5265,nssv925,nssv2842 M 9 4 0 MIR510,MIR514-1,MIR514-2,MIR514-3 NA15510,NA18555,NA19129,NA19240 nsv216 X 146152797 146174575 CNV Insertion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv216 S 1 1 0 MIR510,MIR514-1,MIR514-2,MIR514-3 NA15510 nsv522113 X 146165697 146239880 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694886 S 2026 1 0 MIR514-1,MIR514-2,MIR514-3 nsv9988 X 146165871 146178074 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27713,nssv27076,nssv23489,nssv28274 M 31 3 1 Samples from several populations that are part of the HapMap project. MIR514-1,MIR514-2,MIR514-3 NA12872,NA18504,NA18860,NA19144 esv22917 X 146167406 146177019 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17103 S 451 4 4 MIR514-1,MIR514-2,MIR514-3 NA11894,NA11931,NA12239,NA12287,NA18508,NA18517,NA19114,NA19190 esv999927 X 146168457 146176330 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586416 S 3 0 1 MIR514-1,MIR514-2,MIR514-3 HuRef nsv519945 X 146192261 146238750 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697140 S 2026 1 0 "" nsv829409 X 146212078 146229084 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422353 S 31 1 0 "" NA18997 esv1011177 X 146212878 146219007 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563769 S 3 0 1 "" HuRef nsv9989 X 146219233 146220797 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25492 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA07029 esv1941084 X 146366750 146367252 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4581619 S 1 0 1 "" NA18507 esv5157 X 146366900 146367205 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27598 S 1 0 1 Single Asian sample YH "" YH esv1003882 X 146366937 146367042 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3582124 S 3 0 1 "" HuRef esv1218608 X 146366945 146367051 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3971194 S 2 0 1 "" HuRef nsv7139 X 146380456 146415166 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8800 S 9 0 1 "" NA12156 nsv523755 X 146477804 146495898 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699573 S 2026 1 0 "" esv1962988 X 146492083 146492541 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4878287 S 1 0 1 "" NA18507 nsv7140 X 146644893 146680152 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv926 S 9 0 1 "" NA19240 nsv519034 X 146647295 146648164 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694300 S 2026 0 1 "" nsv499536 X 146651366 146657504 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586146 S 9 0 1 "" nsv442817 X 146651390 146655904 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515180 X 146651392 146656336 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628426 S 1414 0 1 "" esv29638 X 146651407 146656760 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18705 S 451 0 4 "" NA18502,NA18511,NA18907,NA19240 nsv438158 X 146654201 146655619 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470226,nssv470227 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18522,NA19153 esv268102 X 146658708 146658793 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2513684 S 157 1 0 Samples from several populations that are part of the HapMap project. "" NA07347 nsv7141 X 146806468 146851349 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8802 S 9 0 1 FMR1,FMR1-AS1 NA12156 dgv2489e1 X 146820296 146959504 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1558,esv1416 M 271 0 0 FMR1,FMR1NB NA18997 nsv513626 X 146881592 146882676 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626878 S 1 1 0 FMR1NB 1 esv2122565 X 146905165 146905548 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4920268 S 1 0 1 FMR1NB NA18507 esv1356430 X 147013996 147014511 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3786411 S 2 0 1 "" HuRef nsv513627 X 147084478 147086005 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626879 S 1 1 0 "" 1 esv1565394 X 147085241 147085241 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4011788 S 2 1 0 "" HuRef esv1100064 X 147085468 147085468 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095047 S 2 1 0 "" HuRef nsv436690 X 147129520 147234482 OTHER Inversion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465829 S 2 0 0 Samples from several populations that are part of the HapMap project. "" NA18505 nsv510864 X 147171795 147241655 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620042 S 4 0 1 "" NA15510 esv1055034 X 147189512 147189723 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4250397 S 2 0 1 "" HuRef nsv7463 X 147238486 147278287 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6384 S 9 0 0 "" NA12156 esv992010 X 147315861 147322747 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564072 S 3 0 1 "" HuRef esv3830 X 147317241 147319020 CNV Deletion Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26271 S 1 0 1 Single Asian sample YH "" YH esv1005513 X 147317281 147318910 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586232 S 3 0 1 "" HuRef esv22276 X 147317384 147318910 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15596 S 451 7 14 "" NA06985,NA07037,NA11931,NA11993,NA11995,NA12006,NA12044,NA12239,NA12414,NA18505,NA18508,NA18517,NA18523,NA18907,NA18909,NA18916,NA19114,NA19190,NA19225,NA19240,NA19257 nsv522404 X 147362601 147386161 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695186 S 2026 1 0 "" nsv523386 X 147362601 147406383 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699135 S 2026 1 0 AFF2 nsv527473 X 147438286 147508676 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703916 S 2026 1 0 AFF2 esv1401412 X 147470235 147470235 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3600038 S 2 1 0 AFF2 HuRef esv1732096 X 147470249 147470249 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4140617 S 2 1 0 AFF2 HuRef esv1373270 X 147470551 147470551 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4231966 S 2 1 0 AFF2 HuRef esv1297644 X 147470596 147470596 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3886009 S 2 1 0 AFF2 HuRef esv1254777 X 147470606 147470606 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747602 S 2 1 0 AFF2 HuRef esv1234642 X 147470630 147470630 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3903923 S 2 1 0 AFF2 HuRef esv274218 X 147477356 147478019 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580673 S 7 1 0 Samples from several populations that are part of the HapMap project. AFF2 NA19238 nsv7142 X 147527569 147557994 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1877 S 9 1 0 AFF2 NA18555 esv1682218 X 147593525 147593525 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4199050 S 2 1 0 AFF2 HuRef nsv515740 X 147634689 147663952 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664642,nssv684927 M 2026 2 0 AFF2 nsv525908 X 147722295 149444239 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702112 S 2026 1 0 AFF2,CXorf40A,CXorf40B,HSFX1,HSFX2,IDS,LOC100131434,LOC100272228,MAGEA11,MAGEA8,MAGEA9,MAGEA9B,MAMLD1,MIR2114,TMEM185A nsv7144 X 147835820 147880941 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv4622,nssv8803 M 9 0 2 AFF2 NA12156,NA19129 nsv469819 X 147942733 148127442 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649840 M 265 1 0 Samples from several populations that are part of the HapMap project. "" nsv7145 X 148008126 148032284 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8804 S 9 0 1 "" NA12156 nsv7146 X 148107430 148138061 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1878 S 9 1 0 "" NA18555 nsv438160 X 148203547 148204343 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470229,nssv470228 M 269 0 2 Samples from several populations that are part of the HapMap project. "" NA18500,NA19098 nsv522756 X 148230829 148331596 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698395 S 2026 1 0 "" esv32782 X 148307589 148323544 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv99520 S 51 0 1 "" 22335 esv1502945 X 148307848 148307918 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3999561 S 2 0 1 "" HuRef esv267990 X 148347008 148347327 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2569540,essv2550021,essv2536930,essv2561486,essv2551009,essv2575406,essv2538717,essv2526559,essv2560804,essv2530431,essv2572677,essv2568521,essv2545065,essv2560173,essv2551593 M 157 15 0 Samples from several populations that are part of the HapMap project. "" NA18508,NA18511,NA18517,NA18523,NA18858,NA19099,NA19108,NA19114,NA19137,NA19141,NA19143,NA19147,NA19172,NA19190,NA19257 nsv7147 X 148367063 148368449 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8805 S 9 1 0 IDS NA12156 esv33821 X 148376794 148378540 CNV Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv94853 S 51 0 1 IDS 22231 nsv518742 X 148384057 148604219 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696192 S 2026 1 0 CXorf40A,HSFX1,HSFX2,IDS,LOC100131434,MAGEA11,MAGEA9,MAGEA9B,TMEM185A nsv527463 X 148407878 148412774 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703906 S 2026 0 1 "" nsv508809 X 148437669 148532565 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv619607 S 4 1 0 CXorf40A,HSFX1,HSFX2,MAGEA9,MAGEA9B,TMEM185A NA10860 nsv7464 X 148449878 148877173 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9783,nssv928,nssv927,nssv11229,nssv9255,nssv5266 M 9 0 0 CXorf40B,HSFX1,HSFX2,LOC100272228,MAGEA11,MAGEA8,MAGEA9,MAGEA9B,TMEM185A NA15510,NA18507,NA18517,NA19129,NA19240 esv28882 X 148451842 148462558 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16003 S 451 0 3 "" NA18508,NA18511,NA19114 nsv442818 X 148452463 148462404 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515181 X 148452912 148461936 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628427 S 1414 0 0 "" nsv9992 X 148453067 148457451 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27086,nssv26702 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19144,NA19173 nsv438161 X 148453178 148458212 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470233,nssv470234,nssv470232,nssv470235,nssv470231 M 269 0 5 Samples from several populations that are part of the HapMap project. "" NA18506,NA18522,NA19144,NA19161,NA19173 nsv9993 X 148457451 148459135 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27096,nssv26743 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19144,NA19173 nsv516868 X 148458377 148461832 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv677142,nssv677551,nssv654597,nssv673367,nssv657403 M 2026 0 5 "" nsv9994 X 148458835 148461589 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27106,nssv26754 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA19144,NA19173 esv1006862 X 148494758 148494885 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3584032 S 3 0 1 TMEM185A HuRef esv1356234 X 148494771 148494899 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4083291 S 2 0 1 TMEM185A HuRef nsv525260 X 148515514 148604219 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701359 S 2026 1 0 MAGEA11,TMEM185A nsv524121 X 148519953 148577057 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv699999 S 2026 1 0 MAGEA11,TMEM185A dgv2490e1 X 148524364 148880464 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv16951,esv784,essv11563,essv16280,essv10319 M 271 0 0 CXorf40B,HSFX1,HSFX2,LOC100272228,MAGEA11,MAGEA8,MAGEA9,MAGEA9B NA18506,NA19144,NA19161,NA19173 nsv217 X 148540036 148605417 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv217 S 1 0 0 MAGEA11 NA15510 nsv499129 X 148556222 148623178 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585590 S 9 0 0 MAGEA11 nsv508000 X 148577713 148583713 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv617988,nssv620490 M 4 2 0 MAGEA11 CHM,NA15510 nsv518867 X 148581595 148691136 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696323 S 2026 1 0 HSFX1,HSFX2,MAGEA11,MAGEA9,MAGEA9B nsv510566 X 148598790 148604790 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618489 S 4 0 1 MAGEA11 CHM nsv516869 X 148604219 148873599 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678026,nssv677552,nssv681454,nssv702788,nssv698081,nssv654598,nssv656241,nssv657404 M 2026 8 0 CXorf40B,HSFX1,HSFX2,LOC100272228,MAGEA11,MAGEA8,MAGEA9,MAGEA9B nsv818041 X 148656541 148735664 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416620,nssv1416621 M 112 2 0 HSFX1,HSFX2,MAGEA9,MAGEA9B NA19172,NA19173 essv14876 X 148677837 148790000 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. MAGEA8 NA18522 esv22974 X 148685000 148792463 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10054,esv20114 M 451 3 0 MAGEA8 NA18508,NA18511,NA19114 nsv818042 X 148690356 148735664 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1416450 S 112 1 0 "" NA19140 nsv442819 X 148692078 148789418 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 MAGEA8 dgv2491e1 X 148693067 148760407 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12897,essv9834,essv8068 M 271 0 0 "" NA18522,NA19144,NA19161 nsv515182 X 148694336 148789376 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628428 S 1414 0 0 MAGEA8 esv22352 X 148832758 148838368 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11377 S 451 3 0 "" NA18508,NA18511,NA19114 nsv9996 X 148851334 148860193 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27563 S 31 1 0 Samples from several populations that are part of the HapMap project. CXorf40B,LOC100272228 NA12155 esv25286 X 148857680 148860048 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19271 S 451 1 0 LOC100272228 NA11993 nsv425357 X 148919693 148919693 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443935 M 24 LOC100272228 nsv7148 X 148981276 149000431 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9929 S 9 0 1 "" NA18507 nsv515183 X 148981280 149000400 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628429 S 1414 0 1 "" esv2141010 X 149084619 149085056 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4881610 S 1 0 1 "" NA18507 esv2516020 X 149201526 149202487 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5255446 S 1 1 0 "" NA18507 esv270949 X 149201945 149202279 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2546398,essv2526020,essv2523034,essv2568178,essv2570634,essv2548512,essv2544242,essv2564720,essv2578059,essv2576338,essv2537641,essv2546642,essv2557407,essv2532083,essv2562555,essv2569272,essv2578590,essv2550175,essv2539047,essv2527269,essv2542891,essv2565023,essv2549573,essv2519921,essv2566312,essv2528982,essv2567476,essv2541804,essv2570012,essv2563678,essv2553358,essv2535506,essv2566971,essv2550879,essv2556324,essv2527855,essv2539364,essv2534141,essv2555673,essv2530163,essv2527687,essv2522445,essv2525768,essv2571225,essv2574083,essv2551202,essv2535978,essv2548839 M 157 48 0 Samples from several populations that are part of the HapMap project. "" NA06986,NA07037,NA11881,NA11918,NA11931,NA11995,NA12044,NA12045,NA12414,NA12751,NA12761,NA12814,NA12878,NA12892,NA18499,NA18505,NA18507,NA18508,NA18510,NA18511,NA18519,NA18522,NA18550,NA18558,NA18564,NA18566,NA18572,NA18579,NA18582,NA18592,NA18593,NA18603,NA18605,NA18608,NA18853,NA18858,NA18871,NA18907,NA18912,NA18916,NA18945,NA18949,NA18952,NA18960,NA18980,NA19238,NA19240,NA19257 esv274497 X 149201955 149202285 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2583895,essv2583844 M 7 2 0 Samples from several populations that are part of the HapMap project. "" NA19238,NA19240 esv1444543 X 149201983 149201983 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4227608 S 2 1 0 "" HuRef esv1003343 X 149255919 149256966 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586921 S 3 1 0 "" HuRef nsv7466 X 149284039 149377927 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5267,nssv10744,nssv932,nssv3827,nssv3828,nssv931,nssv9256,nssv5268,nssv6387,nssv6385,nssv1879 M 9 0 0 MAMLD1 NA12156,NA12878,NA18517,NA18555,NA18956,NA19129,NA19240 esv1003742 X 149301319 149302220 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3563620 S 3 0 1 MAMLD1 HuRef esv2039684 X 149301611 149302326 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4841849 S 1 0 1 MAMLD1 NA18507 esv1008195 X 149301795 149302130 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3573354 S 3 0 1 MAMLD1 HuRef esv1779711 X 149301806 149302142 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4123727 S 2 0 1 MAMLD1 HuRef esv989719 X 149319016 149340884 OTHER Inversion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564836 S 3 0 0 MAMLD1 HuRef nsv513728 X 149321562 149336004 OTHER Inversion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626980 S 1 0 0 MAMLD1 1 dgv64n47 X 149321612 149336341 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499788,nsv499802,nsv499592,nsv499605 M 9 0 0 MAMLD1 esv1589182 X 149322178 149335950 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4345029 S 2 0 0 MAMLD1 HuRef nsv523240 X 149322260 149326010 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv698968 S 2026 1 0 MAMLD1 nsv526939 X 149322260 149348020 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703307 S 2026 1 0 MAMLD1 nsv819010 X 149336835 149336869 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418909 S 2 1 0 MAMLD1 AK1 nsv520835 X 149373314 149374751 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697641 S 2026 1 0 MAMLD1 nsv526896 X 149392677 149394072 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv703254 S 2026 0 1 MAMLD1 nsv508810 X 149417488 149501329 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623611 S 4 1 0 MAMLD1,MTM1 NA18994 nsv527628 X 149449879 149477749 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704096 S 2026 1 0 "" nsv520338 X 149549012 149555922 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697357 S 2026 0 1 MTM1 nsv7149 X 149561786 149596129 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv933 S 9 1 0 MTM1 NA19240 nsv508811 X 149582882 149637531 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623612 S 4 1 0 MTM1,MTMR1 NA18994 nsv525661 X 149650911 149711777 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv701817 S 2026 1 0 CD99L2,MTMR1 esv8745 X 149653122 149653179 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31186 S 1 1 0 MTMR1 SJK nsv508813 X 149654208 149730612 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623613 S 4 1 0 CD99L2,MTMR1 NA18994 esv26367 X 149678533 149679503 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15411 S 451 0 3 MTMR1 NA11995,NA12239,NA12776 nsv7150 X 149692134 149721428 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1880 S 9 1 0 CD99L2 NA18555 nsv510567 X 149694298 149700298 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618490,nssv621378,nssv622212 M 4 0 3 CD99L2 CHM,NA10860,NA15510 nsv7151 X 149712742 149749758 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8806 S 9 0 1 CD99L2 NA12156 esv1531534 X 149743321 149743412 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4363178 S 2 0 1 CD99L2 HuRef esv1216901 X 149743416 149743611 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4234851 S 2 0 1 CD99L2 HuRef nsv515184 X 149891792 149892912 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628430 S 1414 1 0 "" esv28989 X 149943093 149946985 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14134 S 451 1 0 "" NA12044 esv1187783 X 149991888 149991888 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4228346 S 2 1 0 "" HuRef esv1411813 X 149992203 149992203 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3859274 S 2 1 0 "" HuRef nsv510865 X 149997922 150067726 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618890 S 4 0 1 "" NA10860 esv2584985 X 150018214 150022132 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5298255 S 1 0 1 "" NA18507 esv1931700 X 150018688 150021606 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4534504 S 1 0 1 "" NA18507 nsv829410 X 150018923 150021433 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423263,nssv1436317 M 31 0 2 "" NA18566,NA18969 esv22687 X 150019173 150021481 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10917 S 451 0 5 "" NA18505,NA18508,NA18523,NA18916,NA19257 nsv508001 X 150041139 150047139 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620491,nssv617989 M 4 2 0 "" CHM,NA15510 esv21945 X 150045098 150046375 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18324 S 451 1 5 "" NA06985,NA07037,NA11931,NA12287,NA12489,NA12749 nsv821293 X 150045098 150046375 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420212 S 1 0 1 "" NA10851 nsv7152 X 150076359 150121003 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8807 S 9 0 1 GPR50,MIR4330 NA12156 nsv7153 X 150185519 150231321 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6388 S 9 0 1 "" NA12156 nsv517397 X 150197181 150226935 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675658,nssv666537,nssv651900,nssv697321,nssv689477,nssv673196,nssv691091 M 2026 7 0 "" nsv515185 X 150231648 150248528 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628431 S 1414 1 0 "" nsv517909 X 150377450 150540372 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695319 S 2026 1 0 PASD1 nsv7155 X 150432611 150467322 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv934 S 9 1 0 "" NA19240 esv28638 X 150457780 150463917 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv14814 S 451 0 8 "" NA12239,NA18502,NA18505,NA18517,NA18916,NA19099,NA19190,NA19225 esv29674 X 150472933 150482440 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20747 S 451 1 0 "" NA12287 esv1004741 X 150474608 150482315 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586531 S 3 1 0 "" HuRef nsv436635 X 150572802 150585849 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465830 S 2 0 1 Samples from several populations that are part of the HapMap project. PASD1 NA18505 nsv7156 X 150592876 150625105 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv10745 S 9 1 0 PASD1,PRRG3 NA18956 nsv424967 X 150627556 150629154 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443545 M 24 "" esv27420 X 150627585 150629265 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10106 S 451 0 3 "" NA18511,NA18861,NA19257 nsv515485 X 150628200 150628974 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678210,nssv669766,nssv668608,nssv672279,nssv653561,nssv654304,nssv681351,nssv651664,nssv667766,nssv693126,nssv687608,nssv677516,nssv665425,nssv672204,nssv686968,nssv665374,nssv674113,nssv687313 M 2026 0 18 "" nsv520926 X 150645024 150652045 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697692 S 2026 1 0 "" nsv518142 X 150658389 150670511 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695563 S 2026 1 0 CNGA2 nsv425333 X 150682629 150682629 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443911 M 24 "" nsv510866 X 150777225 150849217 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620043 S 4 0 1 MAGEA4 NA15510 nsv528228 X 150824704 150862334 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv704790 S 2026 1 0 MAGEA4 esv22619 X 150831094 150840811 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15302,esv10031 M 451 2 0 MAGEA4 NA11993,NA12489 esv1005324 X 150831426 150841605 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3564201 S 3 0 1 MAGEA4 HuRef nsv829411 X 150851862 150862405 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423274 S 31 1 0 "" NA18969 nsv510867 X 150855442 150906173 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv618891 S 4 0 1 GABRE,MIR224,MIR452 NA10860 nsv517791 X 150909432 151023847 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv664057,nssv653273,nssv699929,nssv696337,nssv666842,nssv669293,nssv684382,nssv661620,nssv654980 M 2026 9 0 "" nsv520971 X 151028755 151055600 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv678995,nssv693482 M 2026 2 0 MAGEA10,MAGEA10-MAGEA5,MAGEA5 nsv516934 X 151082425 151430880 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv656957,nssv689600,nssv700707,nssv683872,nssv701165,nssv662872,nssv702040,nssv657732,nssv655052,nssv704500 M 2026 9 1 GABRA3,MIR105-1,MIR105-2,MIR767 nsv513629 X 151101837 151101935 CNV Insertion Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv626881 S 1 1 0 GABRA3 1 esv1157238 X 151101885 151101885 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4093211 S 2 1 0 GABRA3 HuRef esv1092318 X 151102015 151102015 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4101049 S 2 1 0 GABRA3 HuRef esv1010518 X 151120700 151121146 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587160 S 3 0 1 GABRA3 HuRef esv995871 X 151170386 151174697 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3587190 S 3 0 1 GABRA3 HuRef esv1338349 X 151194589 151194589 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4153176 S 2 1 0 GABRA3 HuRef nsv508814 X 151196848 151224628 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623614 S 4 1 0 GABRA3 NA18994 esv25153 X 151225097 151227532 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10092 S 451 0 1 GABRA3 NA12749 nsv7157 X 151323203 151355294 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv6389 S 9 1 0 GABRA3 NA12156 dgv2493e1 X 151652710 151768408 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv8530,esv1238 M 271 0 0 CETN2,CSAG1,CSAG2,CSAG3,MAGEA12,MAGEA2,MAGEA2B,MAGEA3,NSDHL NA18523 nsv470373 X 151716070 151855148 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis Illumina HumanHap550 Genotyping BeadChip v1 + v3 nssv547070 S 443 1 0 A resource of 1064 cultured lymphoblastoid cell lines from 1050 individuals in 51 world populations CETN2,NSDHL,ZNF185 HGDP00959 esv2270260 X 151733244 151733670 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4639620 S 1 0 1 "" NA18507 esv2541289 X 151733422 151733495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5357761 S 1 0 1 "" NA18507 esv25868 X 151736165 151767032 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv15374 S 451 1 0 CETN2,NSDHL NA18523 esv269380 X 151752427 151752617 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2500819,essv2503184,essv2511438,essv2507975,essv2503438,essv2508530,essv2505011,essv2508885,essv2500338,essv2496790,essv2494390,essv2493285,essv2504223,essv2509704,essv2493829,essv2506066,essv2500359,essv2507935,essv2506353,essv2507501,essv2498646,essv2505725,essv2507100,essv2509353,essv2507439,essv2512318,essv2503751,essv2495934,essv2506916,essv2498960,essv2493563,essv2498832,essv2497628,essv2497079,essv2511926,essv2501955,essv2498112,essv2502126,essv2503673,essv2495815,essv2513087 M 157 41 0 Samples from several populations that are part of the HapMap project. NSDHL NA06986,NA07000,NA10847,NA11830,NA11881,NA11920,NA12003,NA12716,NA12717,NA12828,NA12878,NA12891,NA18498,NA18502,NA18504,NA18505,NA18508,NA18517,NA18523,NA18537,NA18564,NA18566,NA18638,NA18858,NA18861,NA18870,NA18909,NA18912,NA18949,NA18960,NA18961,NA19102,NA19114,NA19137,NA19138,NA19147,NA19190,NA19238,NA19239,NA19240,NA19257 esv273004 X 151752433 151752761 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2582078,essv2582864 M 7 2 0 Samples from several populations that are part of the HapMap project. NSDHL NA12878,NA12892 nsv7158 X 151760619 151787889 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv1881 S 9 1 0 NSDHL NA18555 nsv517284 X 151802807 151884976 CNV Gain+Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv666686,nssv702600,nssv702101,nssv681042,nssv693822,nssv702025,nssv659888,nssv690116,nssv654201,nssv702281,nssv669107 M 2026 9 2 ZNF185 nsv520008 X 151833399 151885604 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv697175 S 2026 1 0 ZNF185 esv24602 X 151853109 151858025 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19898 S 451 0 1 ZNF185 NA19114 nsv510868 X 151897278 151961804 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622651 S 4 0 1 PNMA5 NA18994 esv1039627 X 151917881 151917881 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4141486 S 2 1 0 "" HuRef nsv520777 X 151922021 151928073 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv675289,nssv686888 M 2026 2 0 "" esv1621021 X 151945846 151945846 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4346309 S 2 1 0 "" HuRef esv1776207 X 151945890 151945890 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4358946 S 2 1 0 "" HuRef nsv7467 X 151955838 152212442 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9784,nssv10746,nssv3831,nssv3830,nssv11230,nssv5272,nssv5271,nssv1882,nssv6390,nssv935,nssv10747,nssv5269 M 9 0 0 MAGEA1,PNMA3,PNMA6A,PNMA6C,PNMA6D NA12156,NA12878,NA15510,NA18507,NA18555,NA18956,NA19129,NA19240 essv6402 X 151961712 152116649 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. PNMA3,PNMA6A,PNMA6C,PNMA6D NA18572 dgv2494e1 X 151961712 152214042 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv6521,esv597 M 271 0 0 MAGEA1,PNMA3,PNMA6A,PNMA6C,PNMA6D NA18572 nsv9997 X 151984459 152088093 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23831 S 31 1 0 Samples from several populations that are part of the HapMap project. PNMA6A,PNMA6C,PNMA6D NA18572 esv33199 X 151984757 153473435 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv98750,essv98886,essv98841,essv97574,essv97471,essv100753,essv100866,essv100895,essv96861,essv95146,essv98316,essv94728,essv94129,essv101292,essv101280,essv94397,essv97015,essv97885,essv95679,essv95586,essv95620,essv95497,essv95263,essv97393,essv95923,essv99116,essv92945,essv92741,essv93603,essv93700,essv96138,essv96689,essv96649,essv96701,essv97274,essv100017,essv100088,essv99998,essv99937,essv99788,essv99916,essv99865,essv99870,essv93549,essv93189,essv99730,essv95049,essv94918,essv94960,essv95039,essv97986,essv97996,essv96475,essv96423,essv99355,essv99303,essv99275,essv99162,essv97615,essv97702,essv100126,essv100366,essv99471,essv99470,essv98487,essv98449,essv96302 M 51 3 38 ABCD1,ARHGAP4,ATP2B3,ATP6AP1,AVPR2,BCAP31,BGN,CTAG1A,CTAG1B,DNASE1L1,DUSP9,EMD,FAM3A,FAM50A,FAM58A,FLNA,G6PD,GDI1,HAUS7,HCFC1,IDH3G,IKBKG,IRAK1,L1CAM,LAGE3,LINC00204A,LINC00204B,MAGEA1,MECP2,MIR3202-1,MIR3202-2,MIR718,NAA10,OPN1LW,OPN1MW,OPN1MW2,PDZD4,PLXNA3,PLXNB3,PNCK,PNMA6A,PNMA6C,PNMA6D,RENBP,RPL10,SLC10A3,SLC6A8,SNORA70,SRPK3,SSR4,TAZ,TEX28,TKTL1,TMEM187,TREX2,UBL4A,ZFP92,ZNF275 21606,21616,21656,21659,21721,21772,21791,21802,21805,21808,21817,21837,21841,21847,21872,21879,21911,21938,21939,21944,21972,22007,22011,22075,22086,22128,22170,22217,22231,22259,22261,22275,22278,22286,22300,22335,22352,22371 nsv9998 X 151998504 152215126 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv23858 S 31 1 0 Samples from several populations that are part of the HapMap project. MAGEA1 NA18572 dgv1256n67 X 152004331 152021998 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829412,nsv829413 M 31 2 0 "" NA18969,NA18973 dgv2n30 X 152089732 152195180 CNV Gain Jakobsson et al 2008 18288195 SNP_genotyping_analysis nsv470374,nsv470375 M 443 2 0 MAGEA1 HGDP00448,HGDP00461 dgv270e55 X 152089732 152202025 CNV Gain Pinto_et_al_2007 17911159 SNP_array esv2752316,esv34516 M 771 2 0 MAGEA1 BEC_470,NA18572 nsv218 X 152103121 152170296 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv218 S 1 0 0 MAGEA1 NA15510 nsv425348 X 152107343 152107426 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv443926 M 24 "" nsv510568 X 152109182 152115182 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624111 S 4 0 1 "" NA18994 nsv508815 X 152167885 152167885 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623616 S 4 1 0 "" NA18994 nsv526046 X 152380555 152408463 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv702282 S 2026 1 0 HAUS7 nsv522600 X 152399680 152422696 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705991 S 2026 1 0 BGN dgv1257n67 X 152441536 152443249 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH nsv829414,nsv829415 M 31 4 0 "" AK12,NA18949,NA18969,NA18999 esv2629862 X 152536114 152537091 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5173322 S 1 1 0 "" NA18507 esv268718 X 152536378 152536715 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2562673,essv2569569,essv2561468,essv2566781,essv2543687,essv2562226,essv2533943,essv2575694,essv2575070,essv2538533,essv2530214,essv2568511,essv2545207,essv2571107,essv2545842,essv2574235 M 157 16 0 Samples from several populations that are part of the HapMap project. "" NA18507,NA18508,NA18523,NA18853,NA18870,NA18909,NA18916,NA19099,NA19102,NA19108,NA19141,NA19147,NA19172,NA19238,NA19239,NA19240 esv272337 X 152536379 152536712 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581724,essv2582772,essv2583903,essv2583430 M 7 4 0 Samples from several populations that are part of the HapMap project. "" NA12878,NA12892,NA19238,NA19240 esv7665 X 152599429 152601935 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30106 S 1 0 0 "" SJK esv1003299 X 152603797 152633238 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586495 S 3 1 0 BCAP31,SLC6A8 HuRef esv21656 X 152606082 152668930 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11280,esv16124,esv16337 M 451 2 1 ABCD1,BCAP31,SLC6A8 NA12044,NA12287,NA19257 nsv469867 X 152731930 152937571 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649888 M 265 0 0 Samples from several populations that are part of the HapMap project. ARHGAP4,AVPR2,HCFC1,IRAK1,L1CAM,MIR3202-1,MIR3202-2,NAA10,PDZD4,RENBP,TMEM187 nsv7159 X 152736447 152781727 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv8809 S 9 0 1 L1CAM,PDZD4 NA12156 nsv829416 X 152761164 152774001 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1439445 S 31 1 0 "" NA18973 nsv829417 X 152764257 152769050 CNV Gain Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1423319 S 31 1 0 "" NA18969 esv1000302 X 152800361 152801931 CNV Gain Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586861 S 3 1 0 "" HuRef esv33784 X 152881310 154582443 CNV Gain+Loss de_Smith_et_al_2007 17666407 Oligo_aCGH Agilent-015366 Custom Human 244K CGH Microarray essv101495,essv98905,essv97586,essv97560,essv101261,essv93823,essv100638,essv100749,essv100763,essv100771,essv100818,essv100869,essv100870,essv100909,essv96765,essv96766,essv96807,essv101083,essv95218,essv98269,essv98239,essv93991,essv101350,essv94305,essv96988,essv97847,essv97830,essv95671,essv95520,essv93062,essv97416,essv101736,essv95848,essv95840,essv95796,essv94556,essv99132,essv92934,essv92994,essv93751,essv96232,essv97087,essv98611,essv99907,essv100070,essv99940,essv99762,essv99778,essv99798,essv99811,essv99823,essv99835,essv99837,essv99898,essv96055,essv93448,essv93251,essv93242,essv99712,essv94845,essv94847,essv94872,essv94894,essv94959,essv92519,essv98072,essv96489,essv99147,essv99306,essv99195,essv99194,essv100117,essv100618,essv100289,essv99421,essv98413 M 51 2 43 ATP6AP1,BRCC3,CLIC2,CTAG1A,CTAG1B,CTAG2,CXorf68,DKC1,DNASE1L1,EMD,F8,F8A1,F8A2,F8A3,FAM3A,FAM50A,FLNA,FUNDC2,G6PD,GAB3,GDI1,H2AFB1,H2AFB2,H2AFB3,HCFC1,IKBKG,IRAK1,LAGE3,LINC00204A,LINC00204B,LOC100507404,MECP2,MIR1184-1,MIR1184-2,MIR1184-3,MIR3202-1,MIR3202-2,MIR718,MPP1,MTCP1,MTCP1NB,OPN1LW,OPN1MW,OPN1MW2,PLXNA3,RAB39B,RPL10,SLC10A3,SNORA36A,SNORA56,SNORA70,TAZ,TEX28,TKTL1,TMEM187,TMLHE,UBL4A,VBP1 21603,21606,21616,21618,21634,21656,21659,21693,21721,21772,21802,21805,21808,21817,21837,21841,21847,21863,21879,21909,21911,21932,21938,21939,21972,22007,22075,22085,22086,22127,22128,22170,22217,22231,22233,22259,22261,22275,22286,22298,22300,22335,22352 nsv519506 X 152892914 152901148 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696889 S 2026 1 0 MIR3202-1,MIR3202-2,TMEM187 esv1374482 X 152924065 152924390 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3879652 S 2 0 1 "" HuRef nsv517994 X 153001625 153034217 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695407 S 2026 1 0 MECP2 nsv519042 X 153001625 153482887 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696511 S 2026 1 0 ATP6AP1,CTAG1A,CTAG1B,DNASE1L1,EMD,FAM3A,FAM50A,FLNA,G6PD,GDI1,IKBKG,LAGE3,LINC00204A,LINC00204B,MECP2,OPN1LW,OPN1MW,OPN1MW2,PLXNA3,RPL10,SLC10A3,SNORA70,TAZ,TEX28,TKTL1,UBL4A nsv7160 X 153022090 153054893 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3832 S 9 1 0 "" NA12878 nsv7161 X 153044460 153211745 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5273,nssv3833,nssv937,nssv936,nssv9257 M 9 0 4 OPN1LW,OPN1MW,OPN1MW2,TEX28,TKTL1 NA12878,NA18517,NA19129,NA19240 esv27518 X 153060291 153175612 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv21244 S 451 10 7 OPN1LW,OPN1MW,OPN1MW2,TEX28 NA07037,NA07045,NA11894,NA11931,NA11995,NA12239,NA12776,NA12828,NA18502,NA18505,NA18508,NA18909,NA19108,NA19114,NA19225,NA19240,NA19257 nsv515186 X 153063040 153113824 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv627223 S 1414 0 0 OPN1LW,OPN1MW,OPN1MW2 nsv7468 X 153191585 153305609 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9786,nssv5275,nssv9259,nssv9785,nssv11231,nssv9258,nssv939,nssv11232,nssv938,nssv5274 M 9 0 0 DNASE1L1,EMD,FLNA,RPL10,SNORA70,TAZ,TKTL1 NA15510,NA18507,NA18517,NA19129,NA19240 nsv219 X 153214275 153242080 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv219 S 1 0 0 FLNA NA15510 nsv9999 X 153220621 153274607 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27571 S 31 1 0 Samples from several populations that are part of the HapMap project. EMD,FLNA NA12155 dgv65n47 X 153223705 153271860 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment nsv499133,nsv499482 M 9 0 0 EMD,FLNA nsv508002 X 153248587 153254587 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623098 S 4 1 0 FLNA NA18994 nsv220 X 153258841 153282041 OTHER Inversion Tuzun et al 2005 15895083 BAC_aCGH,PCR,Read-depth_analysis Capillary nssv220 S 1 0 0 EMD,RPL10,SNORA70 NA15510 esv1226673 X 153276592 153279714 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4159804 S 2 0 0 "" HuRef nsv508816 X 153373703 153473240 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623617 S 4 1 0 CTAG1A,CTAG1B,FAM3A,G6PD,IKBKG,LINC00204A,LINC00204B NA18994 esv24652 X 153431010 153436807 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10020 S 451 1 0 IKBKG NA12878 esv27496 X 153438598 153451323 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18732 S 451 3 1 IKBKG NA12776,NA18511,NA18909,NA19225 nsv7469 X 153453493 153475817 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv5276 S 9 0 0 CTAG1A,CTAG1B NA19129 esv29893 X 153467027 153467625 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16687 S 451 1 0 CTAG1A,CTAG1B NA11993 nsv511088 X 153473240 153491102 CNV Complex Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624333 S 4 0 0 "" NA18994 nsv518228 X 153482887 153601175 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695657 S 2026 1 0 CTAG1A,CTAG1B,CTAG2,GAB3,LINC00204A,LINC00204B esv27930 X 153499682 153500609 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17392 S 451 1 0 CTAG1A,CTAG1B NA11993 esv24250 X 153514425 153528579 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13813 S 451 3 1 LINC00204A,LINC00204B NA12776,NA18511,NA18909,NA19225 nsv521523 X 153557591 153601175 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv694457 S 2026 1 0 GAB3 esv29972 X 153662541 154582606 CNV Gain Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Illumina HumanHap650Y Genotyping BeadChip + Agilent Custom High-Definition-CGH Microarray + [Mapping250K_Sty] Affymetrix Mapping 250K Sty2 SNP Array + [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array + Nimblegen human whole-genome 385K CGH array essv84211 S 2 1 0 BRCC3,CLIC2,CXorf68,F8,F8A1,F8A2,F8A3,FUNDC2,H2AFB1,H2AFB2,H2AFB3,LOC100507404,MIR1184-1,MIR1184-2,MIR1184-3,MPP1,MTCP1,MTCP1NB,RAB39B,TMLHE,VBP1 HuRef nsv516158 X 153672277 153712871 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv689388,nssv671736,nssv684383,nssv681519,nssv662790,nssv674697,nssv693656,nssv671099,nssv666538,nssv680729,nssv677047,nssv694576,nssv673197 M 2026 13 0 CXorf68,MPP1 esv29815 X 153953046 154098786 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv17651 S 451 1 0 BRCC3,VBP1 NA18916 nsv518251 X 153978645 154093355 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv695682 S 2026 1 0 BRCC3 esv1011078 X 153987177 153991766 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565364 S 3 0 1 BRCC3 HuRef nsv528909 X 154019612 154098953 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv705594 S 2026 1 0 VBP1 nsv517430 X 154056000 154070562 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv652002,nssv685996,nssv672670,nssv658665,nssv686908,nssv677566 M 2026 0 6 "" esv2543058 X 154138578 154140783 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5243501 S 1 0 1 RAB39B NA18507 esv1997322 X 154138946 154140314 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4771256 S 1 0 1 "" NA18507 esv28852 X 154139170 154140154 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10822 S 451 17 15 "" NA06985,NA07037,NA07045,NA11894,NA11931,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225 esv273048 X 154164782 154165014 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579214,essv2579744 M 7 2 0 Samples from several populations that are part of the HapMap project. CLIC2 NA19239,NA19240 esv26400 X 154208830 154210056 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv18885 S 451 0 1 CLIC2 NA19240 nsv508817 X 154217176 154286637 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623618 S 4 1 0 CLIC2,F8A1,F8A2,F8A3,H2AFB1,H2AFB2,H2AFB3,LOC100507404,MIR1184-1,MIR1184-2,MIR1184-3 NA18994 nsv7470 X 154217902 154417402 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3834,nssv9930,nssv10749,nssv1884 M 9 0 0 F8A1,F8A2,F8A3,H2AFB1,H2AFB2,H2AFB3,LOC100507404,MIR1184-1,MIR1184-2,MIR1184-3,TMLHE NA12878,NA18507,NA18555,NA18956 nsv499361 X 154221969 154385266 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585598 S 9 0 0 F8A1,F8A2,F8A3,H2AFB1,H2AFB2,H2AFB3,LOC100507404,MIR1184-1,MIR1184-2,MIR1184-3,TMLHE nsv818043 X 154390570 154430758 CNV Gain Wang_et_al_2007 17921354 SNP_array Illumina HumanHap550 Bead Chip nssv1417803 S 112 1 0 TMLHE NA12234 nsv519485 X 154390570 154582606 CNV Loss Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv696877 S 2026 0 1 TMLHE nsv438162 X 154427857 154430758 CNV Loss McCarroll et al 2006 16468122 SNP_genotyping_analysis Not Provided nssv470236 S 269 0 1 Samples from several populations that are part of the HapMap project. TMLHE NA12003 nsv520699 X 154427857 154582606 CNV Gain Shaikh et al 2009 19592680 SNP_array Illumina HumanHap550 Genotyping BeadChip v3 nssv700054,nssv680829,nssv678628,nssv688059,nssv674290 M 2026 5 0 TMLHE nsv7162 X 154428697 154474566 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv3835,nssv10750,nssv1885,nssv6391,nssv5277 M 9 0 5 TMLHE NA12156,NA12878,NA18555,NA18956,NA19129 esv24743 X 154431708 154435757 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13189 S 451 0 2 TMLHE NA18517,NA19225 nsv511652 X 154434317 154469633 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626287 S 1 0 1 TMLHE 1 nsv510869 X 154435336 154483171 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622652 S 4 0 1 TMLHE NA18994 esv24821 X 154435853 154456908 CNV Gain+Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv20313,esv16356,esv11305 M 451 17 16 TMLHE NA06985,NA07037,NA07045,NA11894,NA11995,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 esv1007887 X 154442862 154456609 CNV Deletion Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3565653 S 3 0 1 TMLHE HuRef nsv820472 X 154443222 154450773 CNV Deletion Ju_et_al_2010 20802225 Sequencing Illumina IIx nssv1420213 S 1 0 1 TMLHE NA10851 nsv829418 X 154443222 154450773 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1422354,nssv1431919,nssv1428012,nssv1437922,nssv1428812,nssv1440109,nssv1440789,nssv1435645,nssv1438577,nssv1423330,nssv1424724,nssv1431788,nssv1423938,nssv1439446 M 31 0 14 TMLHE AK10,AK18,AK8,NA18537,NA18564,NA18582,NA18942,NA18947,NA18949,NA18951,NA18969,NA18973,NA18997,NA18999 nsv512705 X 154443239 154456980 CNV Loss Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina Genome Analyzer nssv625328 S 1 0 1 TMLHE 1 esv274593 X 154443334 154443419 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581036 S 7 1 0 Samples from several populations that are part of the HapMap project. TMLHE hapmap_pooled_sample_set esv992364 X 154443364 154443886 CNV Loss Pang_et_al_2010 20482838 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array essv3586718 S 3 0 1 TMLHE HuRef nsv499386 X 154443383 154456465 CNV Loss Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv586147 S 9 0 1 TMLHE nsv829420 X 154446459 154450509 CNV Loss Park_et_al_2010 20364138 Oligo_aCGH Agilent 24M aCGH nssv1437474,nssv1423916 M 31 0 2 TMLHE NA18547,NA18592 nsv515187 X 154446656 154450368 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628432 S 1414 0 1 TMLHE nsv7163 X 154459012 154493596 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv941 S 9 1 0 TMLHE NA19240 nsv471607 X 154535312 154695188 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549605,nssv549606,nssv549607,nssv549609,nssv549608 M 48 4 1 SPRY3 NA10496,NA10971,NA15731,NA15733,NA17059 nsv510870 X 154569229 154593263 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv620045,nssv617452,nssv618892 M 4 0 3 "" CHM,NA10860,NA15510 nsv511663 X 154570039 154592212 CNV Gain Arlt et al 2011 21212237 Read-depth_analysis,SNP_array Illumina HumanOmni1-Quad BeadChip nssv626300 S 1 1 0 "" 1 esv2641413 X 154570725 154575206 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5247354 S 1 0 1 "" NA18507 nsv436632 X 154570807 154577690 CNV Deletion Korbel et al 2007 17901297 FISH,Oligo_aCGH,PCR,Sequencing 454 nssv465832 S 2 0 1 Samples from several populations that are part of the HapMap project. "" NA18505 esv22883 X 154571451 154574908 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv13466 S 451 0 7 "" NA07045,NA15510,NA18502,NA18523,NA18916,NA19190,NA19225 esv2069815 X 154571603 154575028 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4587534 S 1 0 1 "" NA18507 esv25593 X 154582967 154616787 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv16887 S 451 2 0 "" NA12287,NA12489 esv268572 X 154645273 154645425 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2508945,essv2505259,essv2506988 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA18522,NA18853,NA19102 nsv508818 X 154680532 154716093 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623619 S 4 1 0 "" NA18994 nsv10000 X 154742231 154746385 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28276,nssv26776,nssv27126 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18860,NA19144,NA19173 esv23467 X 154742971 154745411 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv10366 S 451 0 7 "" NA18505,NA18508,NA18523,NA18858,NA19099,NA19129,NA19240 nsv10001 X 154810725 154812503 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26787,nssv26442,nssv28278,nssv27750 M 31 4 0 Samples from several populations that are part of the HapMap project. VAMP7 NA18504,NA18860,NA19007,NA19173 esv29248 X 154832710 154838417 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv19308 S 451 2 0 "" NA06985,NA12044 esv22690 X 154889645 154901288 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv12916 S 451 0 3 IL9R NA18502,NA19108,NA19257 nsv10003 X 154899300 154913754 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26456,nssv28280 M 31 2 0 Samples from several populations that are part of the HapMap project. "" NA18860,NA19007 esv24353 X 154903140 154910655 CNV Loss Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11164 S 451 0 1 "" NA12044 esv24221 X 154910705 154912755 CNV Gain Conrad et al 2009 19812545 Composite_approach,Oligo_aCGH Sanger H. Sapiens NimbleGen 42M CGH Array esv11921 S 451 1 0 "" NA12044 nsv10004 Y 514762 523182 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27757 S 31 0 1 Samples from several populations that are part of the HapMap project. SHOX NA18504 nsv10005 Y 605166 608686 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28312,nssv23517,nssv25515 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA07029,NA12872,NA18860 nsv508819 Y 900831 950425 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 1 0 "" NA15510 nsv510871 Y 1612802 1782683 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 0 1 AKAP17A,ASMT,P2RY8 NA15510 nsv10006 Y 1779116 1782449 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26470,nssv27136,nssv26798,nssv27764 M 31 0 4 Samples from several populations that are part of the HapMap project. "" NA18504,NA19007,NA19144,NA19173 nsv10007 Y 1870511 1875573 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26495,nssv26157 M 31 0 2 Samples from several populations that are part of the HapMap project. "" NA18563,NA18853 nsv10008 Y 1895307 1901245 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27771,nssv28314,nssv26484,nssv23885,nssv25538 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA07029,NA18504,NA18572,NA18860,NA19007 nsv10009 Y 2302310 2305684 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26206,nssv23545,nssv26809,nssv27176,nssv28316,nssv26498,nssv25561,nssv27778 M 31 8 0 Samples from several populations that are part of the HapMap project. DHRSX NA07029,NA12872,NA18504,NA18853,NA18860,NA19007,NA19144,NA19173 nsv10010 Y 2426804 2432293 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27579 S 31 1 0 Samples from several populations that are part of the HapMap project. DHRSX,ZBED1 NA12155 nsv508003 Y 2550929 2556929 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623099 S 4 1 0 CD99P1 NA18994 nsv508004 Y 3050542 3056542 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 1 0 "" NA15510 nsv510569 Y 3135809 3141809 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 0 1 "" NA15510 esv270576 Y 3467680 3467765 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2514089,essv2514303 M 157 3 0 Samples from several populations that are part of the HapMap project. "" NA12043,NA12874,NA12878 esv273346 Y 3467680 3467765 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2581029 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set nsv10011 Y 3557219 4597997 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv25993,nssv26225,nssv27785 M 31 3 0 Samples from several populations that are part of the HapMap project. "" NA07048,NA18504,NA18853 esv1055498 Y 3571938 3572113 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3787002 S 2 0 1 "" HuRef nsv820153 Y 3768070 3823149 CNV Gain Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418750 S 2 1 0 "" AK1 esv1784829 Y 4372360 4372360 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4268906 S 2 1 0 "" HuRef nsv510570 Y 5354712 5360712 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 0 1 PCDH11Y NA15510 nsv508005 Y 5799837 5805837 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 1 0 "" NA15510 nsv508006 Y 5887841 5893841 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 1 0 "" NA15510 dgv2495e1 Y 6015799 6186839 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17011,essv6598,essv11152 M 271 0 0 TSPY2,TTTY23,TTTY23B NA18621,NA19144,NA19211 dgv2496e1 Y 6015799 6386452 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv7,essv12267,essv20001,essv15293,essv4239 M 271 0 0 TSPY2,TTTY1,TTTY1B,TTTY2,TTTY21,TTTY21B,TTTY23,TTTY23B,TTTY2B,TTTY7,TTTY7B NA07048,NA18603,NA18862,NA19101 nsv510872 Y 6035458 6098342 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622653 S 4 0 1 "" NA18994 dgv15n29 Y 6092613 6262072 CNV Loss Locke et al 2006 16826518 BAC_aCGH nsv469876,nsv469743 M 265 0 7 TSPY2,TTTY23,TTTY23B nsv7473 Y 6148528 10384481 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9931,nssv9788 M 9 0 0 AMELY,FAM197Y2P,PRKY,RBMY1A3P,RBMY3AP,TBL1Y,TSPY1,TSPY2,TSPY3,TSPY4,TSPY8,TTTY1,TTTY11,TTTY12,TTTY16,TTTY18,TTTY19,TTTY1B,TTTY2,TTTY20,TTTY21,TTTY21B,TTTY22,TTTY23,TTTY23B,TTTY2B,TTTY7,TTTY7B,TTTY8,TTTY8B NA18507 nsv510873 Y 6168728 6189338 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping "" S 4 0 1 TSPY2,TTTY23,TTTY23B NA15510 nsv10012 Y 6171055 6197396 CNV Gain+Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27792,nssv26013,nssv27799 M 31 1 1 Samples from several populations that are part of the HapMap project. TSPY2,TTTY23,TTTY23B NA07048,NA18504 nsv10014 Y 6201132 6208969 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27806 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv508820 Y 6289126 6412311 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623621 S 4 1 0 TTTY1,TTTY1B,TTTY2,TTTY21,TTTY21B,TTTY2B,TTTY7,TTTY7B,TTTY8,TTTY8B NA18994 nsv7168 Y 6596519 6637214 CNV Loss Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9789 S 9 0 1 "" NA18507 nsv442820 Y 6604489 6629337 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515233 Y 6608109 6619151 CNV Gain Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628433 S 1414 1 0 "" dgv2497e1 Y 7755631 7997998 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv307,essv6683 M 271 0 0 "" NA18608 esv1343689 Y 8541330 8541330 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3890004 S 2 1 0 "" HuRef essv6780 Y 9190964 9301322 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. FAM197Y2P,RBMY1A3P,TSPY3,TSPY4,TSPY8,TTTY20 NA18562 nsv7169 Y 9980579 9981373 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9790 S 9 1 0 "" NA18507 nsv510571 Y 10030189 10036189 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624112 S 4 0 1 "" NA18994 nsv10016 Y 10341389 10357428 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27216,nssv26820,nssv23966,nssv26244,nssv27850 M 31 5 0 Samples from several populations that are part of the HapMap project. "" NA18504,NA18572,NA18853,NA19144,NA19173 essv17571 Y 10449174 10622984 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA12762 dgv2499e1 Y 10449174 10714553 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv871,essv20217,essv11181,essv21733,essv24931,essv12177,essv11630,esv2,essv4728,essv17010,essv8440,essv9666,essv17941,essv15838,essv12830 M 271 0 0 "" NA06994,NA12003,NA12144,NA12248,NA18516,NA18620,NA18913,NA19000,NA19101,NA19120,NA19144,NA19154,NA19211,NA19223 nsv10017 Y 10475956 10477314 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27595 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA12155 esv7345 Y 10537461 10616803 OTHER Inversion Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29786 S 1 0 0 "" SJK essv391 Y 10553937 10714553 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. "" NA18971 esv272932 Y 10564475 10564803 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2580058 S 7 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv5769 Y 10578335 10581968 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28210 S 1 0 1 "" SJK esv5770 Y 10618219 10622597 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28211 S 1 0 1 "" SJK nsv10018 Y 10625601 10641271 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27857 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 esv4496 Y 10630815 10630959 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26937 S 1 0 0 Single Asian sample YH "" YH esv9691 Y 10631363 10633800 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32132 S 1 0 1 "" SJK esv8479 Y 10640020 10641215 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30920 S 1 0 1 "" SJK nsv10019 Y 10643680 10646690 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27864 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 esv8817 Y 11682670 11683455 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31258 S 1 0 1 "" SJK esv2570325 Y 11713731 11716215 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5311316 S 1 0 1 "" NA18507 esv6747 Y 11763221 11763714 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29188 S 1 0 1 "" SJK esv270989 Y 11777725 11777810 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2517160 S 157 1 0 Samples from several populations that are part of the HapMap project. "" hapmap_pooled_sample_set esv4974 Y 11907659 11910177 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27415 S 1 0 0 Single Asian sample YH "" YH esv5952 Y 11907688 11910461 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28393 S 1 0 1 "" SJK esv8617 Y 11909301 11909497 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31058 S 1 0 1 "" SJK esv9258 Y 11909863 11909963 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31699 S 1 1 0 "" SJK esv8559 Y 11911241 11911544 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31000 S 1 0 1 "" SJK esv9016 Y 11913838 11918421 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31457 S 1 0 1 "" SJK dgv123e19 Y 11920454 11949907 CNV Loss Ahn et al 2009 19470904 Sequencing esv8632,esv9411,esv6693,esv6876,esv8676,esv6446,esv9711,esv6491,esv7733,esv6577,esv8751,esv6220,esv9010,esv9402 M 1 0 1 "" SJK dgv124e19 Y 11921180 11929958 CNV Loss Ahn et al 2009 19470904 Sequencing esv7555,esv9484 M 1 0 1 "" SJK dgv125e19 Y 11922405 11939323 CNV Loss Ahn et al 2009 19470904 Sequencing esv7826,esv9531,esv7390 M 1 0 1 "" SJK esv9369 Y 11923818 11931794 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31810 S 1 0 1 "" SJK dgv126e19 Y 11924872 11947675 CNV Loss Ahn et al 2009 19470904 Sequencing esv7312,esv5995,esv6142,esv9131,esv7683,esv8933,esv7991,esv5896,esv7891,esv8081,esv9438,esv9138,esv8874,esv7141 M 1 0 1 "" SJK dgv127e19 Y 11924997 11943340 CNV Loss Ahn et al 2009 19470904 Sequencing esv6388,esv7802,esv8866,esv8544,esv8819,esv5603,esv6352,esv6767,esv5644,esv6314,esv6273,esv7945,esv8763 M 1 0 1 "" SJK dgv128e19 Y 11925555 11935170 CNV Loss Ahn et al 2009 19470904 Sequencing esv7351,esv8921 M 1 0 1 "" SJK esv7915 Y 11925967 11926017 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30356 S 1 1 0 "" SJK esv5473 Y 11926856 11927315 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27914 S 1 0 1 "" SJK esv4518 Y 11926938 12144207 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26959 S 1 0 0 Single Asian sample YH "" YH dgv129e19 Y 11930030 11937069 CNV Loss Ahn et al 2009 19470904 Sequencing esv9605,esv7917 M 1 0 1 "" SJK dgv130e19 Y 11931700 11949852 CNV Loss Ahn et al 2009 19470904 Sequencing esv9401,esv7316,esv6860,esv5889 M 1 0 1 "" SJK dgv131e19 Y 11932540 11945352 CNV Loss Ahn et al 2009 19470904 Sequencing esv8847,esv8171,esv8881,esv7433,esv7626,esv8159,esv9233 M 1 0 1 "" SJK dgv132e19 Y 11932745 11940353 CNV Loss Ahn et al 2009 19470904 Sequencing esv6798,esv8721,esv5715 M 1 0 1 "" SJK esv6617 Y 11933954 11935048 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29058 S 1 0 1 "" SJK dgv133e19 Y 11935572 11947362 CNV Loss Ahn et al 2009 19470904 Sequencing esv6906,esv8051,esv6201,esv9545 M 1 0 1 "" SJK dgv134e19 Y 11938331 11949567 CNV Loss Ahn et al 2009 19470904 Sequencing esv7740,esv7773,esv6050 M 1 0 1 "" SJK esv5962 Y 11939670 11942369 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28403 S 1 0 1 "" SJK dgv135e19 Y 11940389 11943845 CNV Loss Ahn et al 2009 19470904 Sequencing esv6702,esv5530,esv6773 M 1 0 1 "" SJK esv7809 Y 11940391 11944898 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30250 S 1 0 1 "" SJK dgv136e19 Y 11941701 11946054 CNV Loss Ahn et al 2009 19470904 Sequencing esv8844,esv6518,esv6040 M 1 0 1 "" SJK esv7497 Y 11942196 11944329 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29938 S 1 0 1 "" SJK esv7309 Y 11942487 11943025 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29750 S 1 0 1 "" SJK esv7034 Y 11943975 11944511 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29475 S 1 0 1 "" SJK esv5867 Y 11944102 11945923 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28308 S 1 0 1 "" SJK esv5445 Y 11945646 11946276 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv27886 S 1 0 1 "" SJK esv9079 Y 11946809 11947201 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31520 S 1 0 1 "" SJK esv7014 Y 12109699 12110803 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29455 S 1 0 1 "" SJK esv6105 Y 12110635 12137104 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28546 S 1 0 1 "" SJK esv3350 Y 12110742 12129402 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25791 S 1 0 0 Single Asian sample YH "" YH esv6054 Y 12111044 12115461 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28495 S 1 0 1 "" SJK dgv137e19 Y 12111044 12131769 CNV Loss Ahn et al 2009 19470904 Sequencing esv9397,esv7302 M 1 0 1 "" SJK dgv138e19 Y 12114187 12126055 CNV Loss Ahn et al 2009 19470904 Sequencing esv7470,esv7577 M 1 0 1 "" SJK esv3676 Y 12128291 12129545 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26117 S 1 0 0 Single Asian sample YH "" YH dgv7e3 Y 12136731 12143701 CNV Complex Wang et al 2008 18987735 Sequencing esv4140,esv3565 M 1 0 0 "" YH esv3060 Y 12143693 12161671 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25501 S 1 0 0 Single Asian sample YH "" YH esv2468861 Y 12147035 12177495 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5379630 S 1 0 1 "" NA18507 esv5829 Y 12147272 12147357 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28270 S 1 1 0 "" SJK esv4837 Y 12147820 12153197 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27278 S 1 0 0 Single Asian sample YH "" YH dgv139e19 Y 12147936 12154471 CNV Loss Ahn et al 2009 19470904 Sequencing esv9715,esv5824 M 1 0 1 "" SJK esv8058 Y 12148624 12166716 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30499 S 1 0 1 "" SJK dgv140e19 Y 12148625 12178832 CNV Loss Ahn et al 2009 19470904 Sequencing esv8283,esv6724,esv8402 M 1 0 1 "" SJK esv5321 Y 12149287 12150344 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27762 S 1 0 0 Single Asian sample YH "" YH esv4319 Y 12151386 12175008 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26760 S 1 0 0 Single Asian sample YH "" YH esv7623 Y 12308944 12316172 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30064 S 1 0 1 "" SJK dgv141e19 Y 12310044 12379798 CNV Loss Ahn et al 2009 19470904 Sequencing esv7549,esv6264,esv7525,esv6089,esv8184,esv5439 M 1 0 1 "" SJK esv7879 Y 12311102 12312258 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30320 S 1 0 1 "" SJK dgv142e19 Y 12311103 12361656 CNV Loss Ahn et al 2009 19470904 Sequencing esv9045,esv9066 M 1 0 1 "" SJK esv3851 Y 12311482 12376896 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26292 S 1 0 0 Single Asian sample YH "" YH dgv143e19 Y 12312301 12348575 CNV Loss Ahn et al 2009 19470904 Sequencing esv7530,esv9510 M 1 0 1 "" SJK esv1060630 Y 12312979 12313554 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4332440 S 2 0 1 "" HuRef esv1263157 Y 12318168 12318882 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3747856 S 2 0 1 "" HuRef esv9580 Y 12323452 12355393 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32021 S 1 0 1 "" SJK dgv144e19 Y 12331109 12379439 CNV Loss Ahn et al 2009 19470904 Sequencing esv9308,esv7896,esv6787 M 1 0 1 "" SJK esv7553 Y 12335039 12364334 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29994 S 1 0 1 "" SJK esv3291 Y 12352817 12365969 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv25732 S 1 0 0 Single Asian sample YH "" YH dgv145e19 Y 12355650 12379797 CNV Loss Ahn et al 2009 19470904 Sequencing esv5963,esv6967 M 1 0 1 "" SJK esv6061 Y 12357205 12361635 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28502 S 1 0 1 "" SJK esv5699 Y 12364369 12379675 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28140 S 1 0 1 "" SJK esv1711016 Y 12365226 12365929 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3785735 S 2 0 1 "" HuRef esv9158 Y 12366714 12373100 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31599 S 1 0 1 "" SJK esv8655 Y 12373144 12373247 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31096 S 1 1 0 "" SJK esv6205 Y 12373159 12379437 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28646 S 1 0 1 "" SJK esv1195277 Y 12675155 12677371 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4342142 S 2 0 1 "" HuRef esv2547685 Y 12682330 12683111 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5263540 S 1 1 0 "" NA18507 esv1654436 Y 12682757 12682757 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3818202 S 2 1 0 "" HuRef nsv510874 Y 12687709 12756364 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv622654 S 4 0 1 "" NA18994 nsv471609 Y 12828560 12995792 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550095,nssv550098,nssv550089,nssv550096,nssv550088,nssv550097,nssv550087 M 48 7 19 "" NA10471,NA10472,NA10473,NA10493,NA10496,NA10967,NA10979,NA11323,NA11521,NA11523,NA15724,NA15726,NA15728,NA15729,NA15730,NA15731,NA15733,NA16688,NA17014,NA17015,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059 nsv7170 Y 12988975 13007175 CNV Insertion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9932 S 9 1 0 "" NA18507 esv1587828 Y 13135265 13135265 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3661182 S 2 1 0 "" HuRef esv2464768 Y 13235654 13236216 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5383648 S 1 1 0 "" NA18507 esv1182657 Y 13235798 13235798 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4364442 S 2 1 0 "" HuRef nsv469834 Y 14495336 14637221 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649855 M 265 1 0 Samples from several populations that are part of the HapMap project. VCY,VCY1B esv1655213 Y 15043053 15043053 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3639957 S 2 1 0 "" HuRef esv1500453 Y 15212538 15213321 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3904604 S 2 0 0 NLGN4Y HuRef nsv510572 Y 15408132 15414132 CNV Loss Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv624113 S 4 0 1 NLGN4Y NA18994 nsv469874 Y 18468366 18668341 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649895 M 265 2 3 Samples from several populations that are part of the HapMap project. CDY2A,CDY2B nsv10020 Y 18507723 18508445 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27871 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 esv1670141 Y 18573501 19260222 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3621351 S 2 0 0 CDY2A,CDY2B,FAM41AY1,FAM41AY2,HSFY1,HSFY2,LINC00230A,LINC00230B,TTTY9A,TTTY9B,XKRY,XKRY2 HuRef nsv10021 Y 18640103 18640825 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27878 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv469717 Y 18698507 18861971 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649738 M 265 0 0 Samples from several populations that are part of the HapMap project. XKRY,XKRY2 dgv2500e1 Y 19134214 19464452 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array esv494,essv23910 M 271 0 0 HSFY1,HSFY2,TTTY9A,TTTY9B NA12814 nsv10022 Y 19153972 19168216 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27885 S 31 1 0 Samples from several populations that are part of the HapMap project. HSFY1,HSFY2 NA18504 nsv10023 Y 19243176 19319769 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27891 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18504 nsv508821 Y 19480975 19505605 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623622 S 4 1 0 NCRNA00185 NA18994 nsv10025 Y 19486451 21430524 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27897 S 31 1 0 Samples from several populations that are part of the HapMap project. BCORP1,CD24,CYorf15B,EIF1AY,KDM5D,NCRNA00185,RPS4Y2,TTTY10,TTTY14,TXLNG2P NA18504 esv1565023 Y 19613916 19613916 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3973827 S 2 1 0 CD24,TTTY14 HuRef esv2450084 Y 20070997 20071856 CNV Insertion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5304145 S 1 1 0 "" NA18507 esv270967 Y 20071349 20071677 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2496788,essv2510618,essv2493311,essv2496373,essv2501196,essv2494682,essv2501022,essv2502436,essv2505418,essv2503734,essv2498778,essv2501958 M 157 12 0 Samples from several populations that are part of the HapMap project. "" NA18498,NA18501,NA18504,NA18510,NA18516,NA18519,NA18856,NA18948,NA18952,NA18960,NA19138,NA19239 esv273313 Y 20071352 20071705 CNV Insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Sequencing 454 GS FLX + Illumina Genome Analyzer II essv2579249 S 7 1 0 Samples from several populations that are part of the HapMap project. "" NA19239 esv2084648 Y 20678154 20678510 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4506680 S 1 0 1 "" NA18507 esv1604475 Y 20678328 20678703 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4108910 S 2 0 1 "" HuRef esv1407786 Y 20697082 20697082 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3992500 S 2 1 0 "" HuRef esv2099842 Y 20721856 20728229 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4946162 S 1 0 1 "" NA18507 esv1230235 Y 20800501 20804504 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4239690 S 2 0 1 "" HuRef esv1083563 Y 20832259 20832259 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3724606 S 2 1 0 "" HuRef esv1663531 Y 20832469 20832469 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4012759 S 2 1 0 "" HuRef esv1476809 Y 20832604 20832604 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4047123 S 2 1 0 "" HuRef esv1154946 Y 20833027 20833027 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4251102 S 2 1 0 "" HuRef esv1740345 Y 20834017 20834017 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3763409 S 2 1 0 "" HuRef esv1454536 Y 20835949 20835949 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4048792 S 2 1 0 "" HuRef esv1053388 Y 20836534 20836534 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4255856 S 2 1 0 "" HuRef esv1532161 Y 20837095 20837095 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3649861 S 2 1 0 "" HuRef esv1667894 Y 20837530 20837530 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4016907 S 2 1 0 "" HuRef esv1231512 Y 20917307 20917432 CNV Deletion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3653472 S 2 0 1 "" HuRef esv2034966 Y 20917862 20920739 CNV Deletion Bentley_et_al_2008 18987734 Sequencing Illumina GA1 DNA Sequencer essv4717040 S 1 0 1 "" NA18507 nsv7474 Y 21565401 21656391 OTHER Inversion Kidd et al 2008 18451855 BAC_aCGH,FISH,MCD_analysis,OEA_assembly,Read-depth_analysis Capillary nssv9791,nssv9792 M 9 0 0 "" NA18507 nsv499794 Y 21581923 21636748 OTHER Inversion Kidd et al 2010b 21111241 Read-depth_analysis,Sequence_alignment Capillary nssv585599 S 9 0 0 "" esv1101108 Y 21632695 21635926 OTHER Inversion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3772204 S 2 0 0 "" HuRef nsv471610 Y 21816711 21990381 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549659,nssv549650,nssv549658,nssv549657,nssv549664 M 48 4 20 RBMY2EP JK1688,NA10471,NA10472,NA10473,NA10493,NA10967,NA10979,NA11323,NA11521,NA11523,NA15726,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA17014,NA17016,NA17020,NA17051,NA17052,NA17058,NA17059 dgv2501e1 Y 21843066 23009216 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv20293,essv19626,essv24243,essv21662,essv11679,essv24922,essv8634,essv22100,essv15840,essv19758,essv12226,essv22062,essv22957,essv18436,essv22853,essv17966,essv9141,essv19649,essv24758,essv20375,essv24738,essv23493,essv23148,essv23994,essv340,essv23010,essv12961,esv436,essv20922,essv11505,essv20037,essv21805,essv23540,essv23932,essv15336,essv17311,essv19503,essv18286,essv17720,essv17469,essv9661,essv17105,essv18755,essv18992,essv16205,essv7042,essv17456,essv24371,essv22675,essv10335 M 271 0 0 PRY,PRY2,RBMY1A1,RBMY1B,RBMY1D,RBMY1E,RBMY1F,RBMY1J,RBMY2EP,RBMY2FP,TTTY13,TTTY5,TTTY6,TTTY6B NA06993,NA06994,NA07034,NA07048,NA07357,NA10830,NA10835,NA10846,NA10856,NA10857,NA10860,NA11829,NA11831,NA11839,NA12003,NA12005,NA12043,NA12144,NA12154,NA12155,NA12248,NA12264,NA12707,NA12716,NA12752,NA12760,NA12762,NA12801,NA12812,NA12814,NA12864,NA12872,NA12874,NA12891,NA18506,NA18612,NA18856,NA18859,NA18860,NA18862,NA18913,NA18971,NA19101,NA19154,NA19161,NA19171,NA19173,NA19223,NA19239 dgv2502e1 Y 22022938 22168778 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv10469,essv13749,essv19270,essv23228,essv12816,essv6224,essv16435,essv18335,essv6564 M 271 0 0 RBMY1A1,RBMY1B,RBMY1D,RBMY1E,TTTY13 NA07029,NA10838,NA11994,NA18515,NA18621,NA18636,NA19120,NA19139,NA19153 dgv2503e1 Y 22022938 22403816 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17003,essv12750 M 271 0 0 RBMY1A1,RBMY1B,RBMY1D,RBMY1E,TTTY13 NA18914,NA19144 essv23856 Y 22022938 22587831 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. RBMY1A1,RBMY1B,RBMY1D,RBMY1E,TTTY13 NA07022 nsv469635 Y 22057859 22199897 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649561 M 265 0 1 Samples from several populations that are part of the HapMap project. RBMY1A1,RBMY1B,RBMY1D,RBMY1E,TTTY13 nsv471611 Y 22057860 22199897 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549674,nssv549687,nssv549686,nssv549671,nssv549688,nssv549672,nssv549685,nssv549673 M 48 4 24 RBMY1A1,RBMY1B,RBMY1D,RBMY1E,TTTY13 NA10471,NA10472,NA10473,NA10493,NA10496,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11323,NA11521,NA11523,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17016,NA17017,NA17020,NA17051,NA17052,NA17058,NA17059 nsv10026 Y 22062348 22481822 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28324,nssv25607,nssv23573,nssv26537,nssv27641,nssv25630,nssv27903,nssv26110,nssv26091,nssv26523,nssv28322,nssv27603,nssv23601 M 31 7 0 Samples from several populations that are part of the HapMap project. RBMY1A1,RBMY1B,RBMY1D,RBMY1E,TTTY13 NA07029,NA07048,NA12155,NA12872,NA18504,NA18563,NA18860 nsv819669 Y 22067025 22117525 CNV Insertion Kim_et_al_2009 19587683 Oligo_aCGH,Sequencing,SNP_array Illumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array nssv1418919 S 2 1 0 RBMY1A1,RBMY1B,RBMY1D,RBMY1E AK1 nsv469695 Y 22402125 22570958 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649627 M 265 0 0 Samples from several populations that are part of the HapMap project. RBMY1A1,RBMY1B,RBMY1D,RBMY1E nsv10027 Y 22491747 22492855 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27909 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv10028 Y 22495042 22496257 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26129 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 essv11423 Y 22688288 22872611 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. RBMY1F,RBMY1J,RBMY2FP,TTTY5,TTTY6,TTTY6B NA18857 essv15983 Y 22688288 23009216 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. RBMY1F,RBMY1J,RBMY2FP,TTTY5,TTTY6,TTTY6B NA18501 nsv10029 Y 22720984 22743122 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27945,nssv26148,nssv26581,nssv27649,nssv25653,nssv28326,nssv23629 M 31 7 0 Samples from several populations that are part of the HapMap project. RBMY1F,RBMY1J NA07029,NA07048,NA12155,NA12872,NA18504,NA18563,NA18860 nsv471612 Y 22770254 22929071 CNV Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv549755 M 48 0 21 RBMY1F,RBMY2FP,TTTY5 NA10471,NA10472,NA10473,NA10493,NA10496,NA10967,NA10979,NA11323,NA11521,NA11523,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17051,NA17052,NA17058,NA17059 nsv515226 Y 22771252 22874450 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628434 S 1414 0 1 RBMY1F,RBMY2FP,TTTY5 nsv442821 Y 22771258 22874762 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RBMY1F,RBMY2FP,TTTY5 nsv10030 Y 22868423 22870004 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28328,nssv27951,nssv26197,nssv23657,nssv25675,nssv27657 M 31 6 0 Samples from several populations that are part of the HapMap project. RBMY1F,RBMY2FP NA07029,NA07048,NA12155,NA12872,NA18504,NA18860 nsv442822 Y 22919906 22926380 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 RBMY1F nsv515227 Y 22919956 22926106 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628435 S 1414 0 0 RBMY1F nsv10031 Y 22954363 22976506 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26216,nssv27665,nssv23715,nssv26595,nssv25727,nssv28330,nssv27957 M 31 7 0 Samples from several populations that are part of the HapMap project. RBMY1F,RBMY1J NA07029,NA07048,NA12155,NA12872,NA18504,NA18563,NA18860 nsv508822 Y 22973854 23049013 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623623 S 4 1 0 PRY,PRY2,TTTY6,TTTY6B NA18994 dgv2504e1 Y 23184696 23691382 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv3193,essv7822,essv6712,essv2189 M 271 0 0 BPY2,BPY2B,BPY2C,DAZ1,DAZ4,TTTY17A,TTTY17B,TTTY17C NA18558,NA18608,NA18960,NA18974 dgv2505e1 Y 23184696 24140696 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv4590,essv3184,essv9615,essv9469,essv16709 M 271 0 0 BPY2,BPY2B,BPY2C,DAZ1,DAZ2,DAZ3,DAZ4,TTTY17A,TTTY17B,TTTY17C NA18524,NA19012,NA19141,NA19142,NA19208 dgv2506e1 Y 23184696 24324269 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12452,essv3761,essv5387,essv2698,essv4049,essv13480,essv1275,essv16753,essv2354,essv215,essv431,essv17233,essv11754,essv3962 M 271 0 0 BPY2,BPY2B,BPY2C,DAZ1,DAZ2,DAZ3,DAZ4,TTTY17A,TTTY17B,TTTY17C NA18503,NA18504,NA18563,NA18635,NA18872,NA18940,NA18948,NA18952,NA18961,NA18967,NA18970,NA18995,NA19192,NA19207 nsv10032 Y 23201206 23202421 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26235 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv10033 Y 23204607 23205715 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27963 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv10034 Y 23283717 24081586 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27673,nssv28364,nssv28366,nssv26297,nssv26831,nssv24050,nssv26262,nssv26512,nssv25771,nssv25749,nssv26635,nssv26526,nssv26280,nssv24023,nssv26622,nssv28362,nssv27236,nssv27969,nssv26314,nssv26842,nssv27681,nssv27226,nssv26609 M 31 0 10 Samples from several populations that are part of the HapMap project. BPY2,BPY2B,BPY2C,DAZ1,DAZ2,DAZ3,DAZ4,TTTY17A,TTTY17B,TTTY17C NA07029,NA12155,NA18504,NA18563,NA18572,NA18853,NA18860,NA19007,NA19144,NA19173 essv10843 Y 23286357 24784720 CNV CNV Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array Agilent "" S 271 0 0 Samples from several populations that are part of the HapMap project. BPY2,BPY2B,BPY2C,CDY1,CDY1B,CSPG4P1Y,DAZ1,DAZ2,DAZ3,DAZ4,GOLGA2P2Y,GOLGA2P3Y,TTTY17A,TTTY17B,TTTY17C,TTTY3,TTTY3B NA18871 nsv508824 Y 23491074 23538202 CNV Insertion Teague et al 2010 20534489 BAC_aCGH,OEA_assembly,Oligo_aCGH,Optical_mapping,Paired-end_mapping Optical Mapping nssv623624 S 4 1 0 "" NA18994 nsv442823 Y 23920276 24298294 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515228 Y 23941480 24027718 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628437 S 1414 0 0 "" nsv10036 Y 24104834 24106049 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26253 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv469884 Y 24149358 24341760 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649905 M 265 3 3 Samples from several populations that are part of the HapMap project. "" nsv442824 Y 24377178 24639899 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 CDY1,CDY1B,TTTY3,TTTY3B nsv515229 Y 24558124 24603384 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628438 S 1414 0 0 CDY1,CDY1B dgv2507e1 Y 24614391 25888972 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9635,essv16649 M 271 0 0 BPY2,BPY2B,BPY2C,CSPG4P1Y,DAZ2,DAZ3,DAZ4,GOLGA2P2Y,GOLGA2P3Y,TTTY17A,TTTY17B,TTTY17C,TTTY4,TTTY4B,TTTY4C NA19141,NA19142 nsv442825 Y 24720477 25412124 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BPY2,BPY2B,BPY2C,CSPG4P1Y,DAZ2,DAZ3,DAZ4,GOLGA2P2Y,GOLGA2P3Y,TTTY17A,TTTY17B,TTTY17C,TTTY4,TTTY4B,TTTY4C dgv2508e1 Y 24941230 25292198 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7796,essv3224,essv2173 M 271 0 0 BPY2,BPY2B,BPY2C,TTTY17A,TTTY17B,TTTY17C,TTTY4,TTTY4B,TTTY4C NA18558,NA18960,NA18974 dgv2509e1 Y 24941230 25888972 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv9451,essv4579,essv6648,essv3762 M 271 0 0 BPY2,BPY2B,BPY2C,DAZ2,DAZ3,DAZ4,TTTY17A,TTTY17B,TTTY17C,TTTY4,TTTY4B,TTTY4C NA18524,NA18608,NA18961,NA19208 dgv2510e1 Y 24941230 26913359 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv1235,essv10822,essv3185,essv5336,essv13488,essv4056,essv2681,essv16806,essv2303,essv219,essv17241,essv11787,essv498,essv3971 M 271 0 0 BPY2,BPY2B,BPY2C,CDY1,CDY1B,CSPG4P1Y,DAZ2,DAZ3,DAZ4,GOLGA2P2Y,GOLGA2P3Y,TTTY17A,TTTY17B,TTTY17C,TTTY3,TTTY3B,TTTY4,TTTY4B,TTTY4C NA18503,NA18504,NA18563,NA18635,NA18871,NA18872,NA18940,NA18948,NA18952,NA18967,NA18970,NA18995,NA19012,NA19192 nsv515230 Y 24952616 25405562 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628439 S 1414 0 0 BPY2,BPY2B,BPY2C,DAZ2,DAZ3,DAZ4,TTTY17A,TTTY17B,TTTY17C,TTTY4,TTTY4B,TTTY4C nsv469740 Y 25040069 25227441 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649761 M 265 2 2 Samples from several populations that are part of the HapMap project. BPY2,BPY2B,BPY2C,TTTY17A,TTTY17B,TTTY17C,TTTY4,TTTY4B,TTTY4C dgv2511e1 Y 25312765 25468406 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12568,essv15802,essv11704,essv411,essv13875 M 271 0 0 DAZ2,DAZ3,DAZ4 NA18854,NA18971,NA19098,NA19154,NA19223 dgv2512e1 Y 25312765 25573091 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv17160,essv12239,essv16932,essv16018,essv11513,essv16308,essv11150,essv10298 M 271 0 0 DAZ2,DAZ3,DAZ4 NA18501,NA18506,NA19101,NA19144,NA19161,NA19171,NA19173,NA19211 nsv469766 Y 25330200 25476615 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649787 M 265 0 1 Samples from several populations that are part of the HapMap project. DAZ2,DAZ3,DAZ4 nsv471613 Y 25330201 25476615 CNV Gain+Loss Sharp et al 2005 15918152 BAC_aCGH,FISH Eichler Segmental Duplication BAC array nssv550499,nssv550500 M 48 2 20 DAZ2,DAZ3,DAZ4 NA10471,NA10472,NA10473,NA10493,NA10496,NA10967,NA10979,NA11323,NA11521,NA11523,NA15729,NA15730,NA15731,NA15732,NA15733,NA16688,NA16689,NA17014,NA17051,NA17052,NA17058,NA17059 nsv442826 Y 25450517 26584649 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 BPY2,BPY2B,BPY2C,CDY1,CDY1B,CSPG4P1Y,DAZ2,DAZ3,DAZ4,GOLGA2P2Y,GOLGA2P3Y,TTTY17A,TTTY17B,TTTY17C,TTTY3,TTTY3B nsv515231 Y 25463500 26576424 CNV Complex Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628440 S 1414 0 0 BPY2,BPY2B,BPY2C,CDY1,CDY1B,CSPG4P1Y,GOLGA2P2Y,GOLGA2P3Y,TTTY17A,TTTY17B,TTTY17C,TTTY3,TTTY3B dgv2513e1 Y 25541673 25724943 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv7821,essv3232 M 271 0 0 BPY2,BPY2B,BPY2C NA18558,NA18974 nsv469828 Y 26055549 26203112 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649849 M 265 1 3 Samples from several populations that are part of the HapMap project. CDY1,CDY1B nsv10038 Y 26547975 26555929 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26686 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18563 nsv469602 Y 26588412 26732208 CNV Gain Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649718 M 265 1 0 Samples from several populations that are part of the HapMap project. "" nsv10039 Y 26675636 26676850 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv26271 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA07048 nsv10040 Y 26679036 26680144 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27989 S 31 0 1 Samples from several populations that are part of the HapMap project. "" NA18504 nsv469854 Y 26680667 26848094 CNV Loss Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649875 M 265 0 1 Samples from several populations that are part of the HapMap project. "" nsv442827 Y 26687080 26847931 CNV CNV McCarroll et al 2008 18776908 SNP_array [GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array "" S 270 "" nsv515232 Y 26762952 26820596 CNV Loss Campbell et al 2011 21397061 Oligo_aCGH Agilent Eichler Human CNP 180K v3.0 + Agilent Eichler Human CNP 180K v2.1 nssv628441 S 1414 0 1 "" dgv2514e1 Y 26906388 27194739 CNV Complex Redon et al 2006 17122850 BAC_aCGH,MassSpec,PCR,qPCR,SNP_array essv12223,esv151 M 271 0 0 "" NA19101 nsv469880 Y 27001153 27139599 CNV Complex Locke et al 2006 16826518 BAC_aCGH Eichler Segmental Duplication BAC array nssv649901 M 265 0 0 Samples from several populations that are part of the HapMap project. "" dgv146e19 Y 27201757 27227183 CNV Loss Ahn et al 2009 19470904 Sequencing esv9657,esv8563,esv9088 M 1 0 1 "" SJK esv1108427 Y 27208346 27208346 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv3754118 S 2 1 0 "" HuRef esv8440 Y 27220284 27226343 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30881 S 1 0 1 "" SJK esv6681 Y 27222460 27226312 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29122 S 1 0 1 "" SJK esv5857 Y 57229550 57236686 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28298 S 1 0 1 "" SJK esv9226 Y 57236773 57265433 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31667 S 1 0 1 "" SJK nsv426320 Y 57261507 57265065 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444898 M 24 "" nsv426326 Y 57265801 57269359 CNV Loss Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444904 M 24 "" esv7365 Y 57381717 57383881 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29806 S 1 0 1 "" SJK esv4252 Y 57385249 57392507 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26693 S 1 0 0 Single Asian sample YH "" YH esv9396 Y 57385294 57389201 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31837 S 1 0 1 "" SJK dgv147e19 Y 57386306 57392126 CNV Loss Ahn et al 2009 19470904 Sequencing esv6557,esv9325,esv7039 M 1 0 1 "" SJK esv8339 Y 57386994 57389952 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30780 S 1 0 1 "" SJK dgv148e19 Y 57387614 57391005 CNV Loss Ahn et al 2009 19470904 Sequencing esv6474,esv6462 M 1 0 1 "" SJK esv7399 Y 57388195 57389776 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29840 S 1 0 1 "" SJK esv6909 Y 57389332 57391209 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29350 S 1 0 1 "" SJK esv6898 Y 57391050 57392012 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29339 S 1 0 1 "" SJK esv6605 Y 57392719 57397717 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29046 S 1 0 1 "" SJK esv7502 Y 57392935 57394075 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29943 S 1 0 1 "" SJK dgv149e19 Y 57393149 57406852 CNV Loss Ahn et al 2009 19470904 Sequencing esv5919,esv8621,esv5803,esv7934 M 1 0 1 "" SJK esv5415 Y 57393178 57404835 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv27856 S 1 0 0 Single Asian sample YH "" YH esv7995 Y 57393561 57395117 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30436 S 1 0 1 "" SJK dgv150e19 Y 57394051 57400403 CNV Loss Ahn et al 2009 19470904 Sequencing esv9444,esv5604 M 1 0 1 "" SJK dgv151e19 Y 57394052 57405559 CNV Loss Ahn et al 2009 19470904 Sequencing esv6184,esv6761,esv7673,esv8238,esv8329,esv9644 M 1 0 1 "" SJK esv6619 Y 57394474 57394864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29060 S 1 0 1 "" SJK esv6203 Y 57395543 57401810 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28644 S 1 0 1 "" SJK dgv152e19 Y 57397784 57403280 CNV Loss Ahn et al 2009 19470904 Sequencing esv6544,esv7182 M 1 0 1 "" SJK dgv153e19 Y 57398991 57406455 CNV Loss Ahn et al 2009 19470904 Sequencing esv5942,esv8172 M 1 0 1 "" SJK esv9587 Y 57399390 57404632 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv32028 S 1 0 1 "" SJK esv5780 Y 57400631 57403977 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28221 S 1 0 1 "" SJK esv6306 Y 57401802 57404804 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv28747 S 1 0 1 "" SJK esv3899 Y 57402580 57404192 CNV Complex Wang et al 2008 18987735 Sequencing Illumina Genome Analyzer essv26340 S 1 0 0 Single Asian sample YH "" YH esv6881 Y 57403588 57405634 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv29322 S 1 0 1 "" SJK esv7857 Y 57404262 57406864 CNV Loss Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv30298 S 1 0 1 "" SJK esv1473661 Y 57406858 57406858 CNV Insertion Levy et al 2007 17803354 Oligo_aCGH,Sequencing,SNP_array Sanger Sequencing essv4095441 S 2 1 0 "" HuRef esv2507474 Y 57412181 57413483 CNV Deletion McKernan_et_al_2009 19546169 Sequencing AB SOLiD 2BE Sequencing essv5306926 S 1 0 1 "" NA18507 nsv426317 Y 57412332 57412332 CNV Insertion Mills et al 2006 16902084 Sequence_alignment Not Provided nssv444895 M 24 "" esv8692 Y 57423103 57423168 CNV Gain Ahn et al 2009 19470904 Sequencing Illumina Genome Analyzer essv31133 S 1 1 0 "" SJK nsv10042 Y 57601431 57605585 CNV Loss Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv27266,nssv28374,nssv26935 M 31 0 3 Samples from several populations that are part of the HapMap project. "" NA18860,NA19144,NA19173 nsv10043 Y 57669925 57671703 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28376,nssv28058,nssv26598,nssv26946 M 31 4 0 Samples from several populations that are part of the HapMap project. VAMP7 NA18504,NA18860,NA19007,NA19173 nsv10044 Y 57758500 57772954 CNV Gain Perry et al 2008 18304495 Oligo_aCGH Agilent-015685 + 015686 Custom Human 244K CGH Microarray nssv28378 S 31 1 0 Samples from several populations that are part of the HapMap project. "" NA18860